Variant key	seen in RNA (1=Yes,0=No)	ID	tumor type	1000genome all freq	dbSNP_ID	Cosmic Info	CGC Tier	Gene Name	All Transcripts AAchange for 25mer	Transcript Info	transcript ID	Mutation type	Exon	cDNA change	AA change	Wt Epitope	Mut Epitope	Gene Expression Decile for this sample(1=lowest expression-10=highest expression)	Exome VAF Decile	Screening Status	Comments	key
14:31085636-31085636 C>T	1.0	1913	MELANOMA	-	-	-	-	G2E3	uc001wql.1,p.P185S|uc001wqk.2,p.P673S|NM_017769,p.P673S|ENST00000553504,p.P703S|ENST00000438909,p.P627S|uc010tpf.1,p.P627S|ENST00000206595,p.P673S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tpf.1	nonsynonymous SNV	exon14	c.C1879T	p.P627S	PVGNKCNNCLAIPITNTYKEFQENM	PVGNKCNNCLAISITNTYKEFQENM	7.0	6.0	unscreened	-	1913_14:31085636-31085636 C>T_PVGNKCNNCLAISITNTYKEFQENM
14:31085637-31085637 C>T	1.0	1913	MELANOMA	-	-	-	-	G2E3	ENST00000438909,p.P627L|ENST00000206595,p.P673L|uc001wqk.2,p.P673L|uc010tpf.1,p.P627L|uc001wql.1,p.P185L|NM_017769,p.P673L|ENST00000553504,p.P703L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tpf.1	nonsynonymous SNV	exon14	c.C1880T	p.P627L	PVGNKCNNCLAIPITNTYKEFQENM	PVGNKCNNCLAILITNTYKEFQENM	7.0	6.0	unscreened	-	1913_14:31085637-31085637 C>T_PVGNKCNNCLAILITNTYKEFQENM
8:54791904-54791904 G>T	1.0	1913	MELANOMA	-	-	-	-	RGS20	uc003xrp.3,p.R84S|NM_170587,p.R84S|ENST00000297313,p.R84S	protein_coding, processed_transcript, nonsense_mediated_decay	uc003xrp.3	nonsynonymous SNV	exon2	c.G252T	p.R84S	FGLLSSPLSSLARFFSHLLRRPPPE	FGLLSSPLSSLASFFSHLLRRPPPE	8.0	5.0	unscreened	-	1913_8:54791904-54791904 G>T_FGLLSSPLSSLASFFSHLLRRPPPE
19:14589289-14589289 G>A	1.0	1913	MELANOMA	-	-	-	-	GIPC1	ENST00000591349,p.P217L|uc002myt.4,p.P314L|uc002myy.4,p.P217L|ENST00000586027,p.P314L|ENST00000345425,p.P314L|NM_202468,p.P314L|ENST00000393033,p.P314L|NM_202469,p.P217L|NM_202494,p.P217L|NM_202470,p.P314L|uc002myx.4,p.P314L|uc002myw.4,p.P217L|ENST00000589631,p.P109L|uc002myu.4,p.P314L|ENST00000393028,p.P217L|ENST00000393029,p.P217L|NM_005716,p.P314L	retained_intron, protein_coding, nonsense_mediated_decay	uc002myy.4	nonsynonymous SNV	exon6	c.C650T	p.P217L	EALDERLGDFAFPDEFVFDVWGAIG	EALDERLGDFAFLDEFVFDVWGAIG	10.0	8.0	unscreened	-	1913_19:14589289-14589289 G>A_EALDERLGDFAFLDEFVFDVWGAIG
7:98567802-98567802 C>T	1.0	1913	MELANOMA	-	-	-	1	TRRAP	ENST00000355540,p.S2502F|ENST00000446306,p.S2502F|uc003upr.3,p.S2219F|NM_003496,p.S2502F|uc003upp.3,p.S2520F|uc011kis.2,p.S2502F|NM_001244580,p.S2520F|ENST00000359863,p.S2520F	retained_intron, protein_coding	uc011kis.2	nonsynonymous SNV	exon50	c.C7505T	p.S2502F	PIGTSCQGAMLPSITNVINLADSHD	PIGTSCQGAMLPFITNVINLADSHD	8.0	5.0	unscreened	-	1913_7:98567802-98567802 C>T_PIGTSCQGAMLPFITNVINLADSHD
19:5212088-5212088 G>A	1.0	1913	MELANOMA	-	-	-	-	PTPRS	uc010xin.2,p.A1190V|NM_002850,p.A1648V|ENST00000587303,p.A1648V|uc002mbv.3,p.A1648V|uc002mbu.1,p.A1217V|ENST00000372412,p.A1649V|ENST00000353284,p.A1201V|NM_130855,p.A1205V|ENST00000588012,p.A1610V|ENST00000348075,p.A1610V|ENST00000262963,p.A1628V|NM_130854,p.A1610V|ENST00000592099,p.A1201V|NM_130853,p.A1201V|uc002mbx.3,p.A1205V|ENST00000357368,p.A1648V|uc002mby.3,p.A1201V|uc002mbw.3,p.A1610V	retained_intron, protein_coding, processed_transcript	uc010xin.2	nonsynonymous SNV	exon22	c.C3569T	p.A1190V	DQYSFIHEALLEAVGCGNTEVPARS	DQYSFIHEALLEVVGCGNTEVPARS	9.0	3.0	unscreened	-	1913_19:5212088-5212088 G>A_DQYSFIHEALLEVVGCGNTEVPARS
3:122474259-122474259 G>A	1.0	1913	MELANOMA	-	-	-	-	HSPBAP1	NM_024610,p.P197S|ENST00000306103,p.P197S|uc003efu.2,p.P197S	protein_coding, processed_transcript	uc003efu.2	nonsynonymous SNV	exon5	c.C589T	p.P197S	FQVQGRKRWHLFPPEDTPFLYPTRI	FQVQGRKRWHLFSPEDTPFLYPTRI	6.0	9.0	unscreened	-	1913_3:122474259-122474259 G>A_FQVQGRKRWHLFSPEDTPFLYPTRI
11:45672443-45672443 G>A	1.0	1913	MELANOMA	-	-	-	-	CHST1	NM_003654,p.L11F|ENST00000308064,p.L11F|uc021qgn.1,p.L11F|uc001mys.2,p.L11F	retained_intron, protein_coding, processed_transcript	uc021qgn.1	nonsynonymous SNV	exon1	c.C31T	p.L11F	MQCSWKAVLLLALASIAIQYTAI	MQCSWKAVLLFALASIAIQYTAI	9.0	8.0	unscreened	-	1913_11:45672443-45672443 G>A_MQCSWKAVLLFALASIAIQYTAI
10:81049600-81049600 C>T	1.0	1913	MELANOMA	-	-	-	-	ZMIZ1	uc001kah.1,p.S41F|NM_020338,p.S165F|ENST00000334512,p.S165F|uc001kag.2,p.S41F|uc001kaf.2,p.S165F	protein_coding, processed_transcript	uc001kah.1	nonsynonymous SNV	exon2	c.C122T	p.S41F	WQQNTNQPPGSLSVVTTVWGVTNTS	WQQNTNQPPGSLFVVTTVWGVTNTS	9.0	5.0	unscreened	-	1913_10:81049600-81049600 C>T_WQQNTNQPPGSLFVVTTVWGVTNTS
11:18427106-18427106 C>T	1.0	1913	MELANOMA	-	-	-	-	LDHA	uc010rdc.1,p.S216F|ENST00000430553,p.S216F|ENST00000379412,p.S274F|uc009yho.2,p.S101F|ENST00000540430,p.S303F|NM_005566,p.S274F|NM_001135239,p.S216F|NM_001165414,p.S303F|ENST00000422447,p.S274F|uc001mok.3,p.S274F|uc010rdd.2,p.S303F|ENST00000542179,p.S274F	retained_intron, protein_coding, nonsense_mediated_decay	uc010rdd.2	nonsynonymous SNV	exon7	c.C908T	p.S303F	SIMKNLRRVHPVSTMIKGLYGIKDD	SIMKNLRRVHPVFTMIKGLYGIKDD	10.0	3.0	unscreened	-	1913_11:18427106-18427106 C>T_SIMKNLRRVHPVFTMIKGLYGIKDD
19:58153083-58153083 C>T	1.0	1913	MELANOMA	-	-	-	-	ZNF211	uc031rng.1,p.S475F|uc002qpt.2,p.S422F|uc010yhc.1,p.S422F|ENST00000420680,p.S414F|NM_001265599,p.S401F|ENST00000254182,p.S401F|ENST00000544273,p.S422F|NM_006385,p.S423F|uc031rnh.1,p.S462F|uc002qpq.2,p.S410F|uc010yhe.2,p.S401F|ENST00000299871,p.S475F|uc002qpr.2,p.S474F|NM_198855,p.S410F|ENST00000347302,p.S410F|ENST00000240731,p.S423F|uc010yhd.2,p.S349F|NM_001265600,p.S349F|ENST00000391703,p.S349F|uc010yhb.1,p.S414F|NM_001265598,p.S462F|ENST00000541801,p.S401F|NM_001265597,p.S475F|uc002qpp.2,p.S423F	retained_intron, protein_coding, nonsense_mediated_decay	uc031rnh.1	nonsynonymous SNV	exon4	c.C1385T	p.S462F	ECNECGKSFSRSSSLIHHRRLHTGE	ECNECGKSFSRSFSLIHHRRLHTGE	6.0	6.0	unscreened	-	1913_19:58153083-58153083 C>T_ECNECGKSFSRSFSLIHHRRLHTGE
11:34149077-34149077 C>T	1.0	1913	MELANOMA	-	-	-	-	NAT10	ENST00000531159,p.A320V|NM_001144030,p.A320V|uc001mvk.3,p.A392V|uc010ren.2,p.A320V|ENST00000257829,p.A392V|NM_024662,p.A392V	protein_coding, processed_transcript	uc010ren.2	nonsynonymous SNV	exon10	c.C959T	p.A320V	GQAELVVIDEAAAIPLPLVKSLLGP	GQAELVVIDEAAVIPLPLVKSLLGP	9.0	8.0	unscreened	-	1913_11:34149077-34149077 C>T_GQAELVVIDEAAVIPLPLVKSLLGP
1:151199851-151199851 C>T	1.0	1913	MELANOMA	-	-	-	-	PIP5K1A	NM_001135636,p.S59F|NM_001135638,p.S71F|uc010pcu.2,p.S59F|ENST00000418435,p.S35F|ENST00000368888,p.S71F|ENST00000368890,p.S58F|uc001exj.3,p.S71F|uc021oyo.1,p.S59F|ENST00000441902,p.S59F|ENST00000349792,p.S58F|ENST00000409426,p.S59F|uc001exi.3,p.S58F|NM_001135637,p.S58F|NM_003557,p.S58F|ENST00000447555,p.S63F|uc001exk.3,p.S58F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021oyo.1	nonsynonymous SNV	exon3	c.C176T	p.S59F	MPIKKIGHRSVDSSGETTYKKTTSS	MPIKKIGHRSVDFSGETTYKKTTSS	9.0	1.0	unscreened	-	1913_1:151199851-151199851 C>T_MPIKKIGHRSVDFSGETTYKKTTSS
22:24224965-24224965 C>T	1.0	1913	MELANOMA	-	-	-	-	SLC2A11	uc002zyn.4,p.S298F|NM_001282864,p.S305F|ENST00000316185,p.S301F|ENST00000345044,p.S298F|NM_030807,p.S305F|NM_001024938,p.S298F|uc002zyp.4,p.S301F|ENST00000398356,p.S305F|uc002zym.4,p.S305F|uc011ajc.1,p.S305F|NM_001024939,p.S301F|uc002zyl.1,p.S305F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ajc.1	nonsynonymous SNV	exon8	c.C914T	p.S305F	LCGNDSVYAYASSVFRKAGVPEAKI	LCGNDSVYAYASFVFRKAGVPEAKI	8.0	4.0	unscreened	-	1913_22:24224965-24224965 C>T_LCGNDSVYAYASFVFRKAGVPEAKI
22:50722124-50722124 G>A	1.0	1913	MELANOMA	-	-	-	-	PLXNB2	ENST00000359337,p.S826F|NM_012401,p.S826F|ENST00000449103,p.S826F|uc003bkv.4,p.S826F	retained_intron, protein_coding, processed_transcript	uc003bkv.4	nonsynonymous SNV	exon15	c.C2477T	p.S826F	PLGGGIRITILGSNLGVQAGDIQRI	PLGGGIRITILGFNLGVQAGDIQRI	9.0	6.0	unscreened	-	1913_22:50722124-50722124 G>A_PLGGGIRITILGFNLGVQAGDIQRI
3:121409842-121409842 A>G	1.0	1913	MELANOMA	-	-	-	-	GOLGB1	uc003eej.5,p.L2751P|NM_001256486,p.L2790P|uc010hrc.4,p.L2790P|NM_004487,p.L2785P|ENST00000340645,p.L2785P|uc003eei.5,p.L2785P|NM_001256488,p.L2710P|NM_001256487,p.L2751P|ENST00000393667,p.L2790P|uc021xcy.2,p.L2710P	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xcy.2	nonsynonymous SNV	exon13	c.T8129C	p.L2710P	EQGLLNRERDALLSETAFSMNSTEE	EQGLLNRERDALPSETAFSMNSTEE	8.0	2.0	unscreened	-	1913_3:121409842-121409842 A>G_EQGLLNRERDALPSETAFSMNSTEE
12:6761498-6761498 G>A	1.0	1913	MELANOMA	-	-	-	-	ING4	ENST00000412586,p.P193L|uc001qpw.4,p.P196L|ENST00000341550,p.P195L|NM_001127583,p.P193L|ENST00000467678,p.P24L|ENST00000446105,p.P192L|uc009zet.3,p.P172L|ENST00000444704,p.P172L|NM_001127585,p.P172L|NM_001127582,p.P196L|NM_001127584,p.P192L|uc001qpy.4,p.P192L|ENST00000396807,p.P196L|uc001qpx.4,p.P193L|uc001qpv.4,p.P195L|NM_016162,p.P195L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zet.3	nonsynonymous SNV	exon5	c.C515T	p.P172L	SDVLDMPVDPNEPTYCLCHQVSYGE	SDVLDMPVDPNELTYCLCHQVSYGE	9.0	2.0	unscreened	-	1913_12:6761498-6761498 G>A_SDVLDMPVDPNELTYCLCHQVSYGE
12:109526174-109526174 G>A	1.0	1913	MELANOMA	-	-	-	-	ALKBH2	uc010sxj.1,p.S208F|NM_001145375,p.S208F|ENST00000343075,p.S208F|NM_001145374,p.S208F|ENST00000429722,p.S208F|uc001tnx.2,p.S208F|NM_001001655,p.S208F|uc001tny.2,p.S208F	retained_intron, protein_coding	uc010sxj.1	nonsynonymous SNV	exon4	c.C623T	p.S208F	VFRHKDSRGKSPSRRVAVVRLPLAH	VFRHKDSRGKSPFRRVAVVRLPLAH	9.0	3.0	unscreened	-	1913_12:109526174-109526174 G>A_VFRHKDSRGKSPFRRVAVVRLPLAH
2:97520089-97520089 C>T	1.0	1913	MELANOMA	-	-	-	-	ANKRD39	ENST00000443120,p.G64S|uc002sxd.4,p.G64S|ENST00000393537,p.G64S|NM_016466,p.G64S	protein_coding, nonsense_mediated_decay	uc002sxd.4	nonsynonymous SNV	exon2	c.G190A	p.G64S	QKAEDPSQPDSAGYTALHYASRNGH	QKAEDPSQPDSASYTALHYASRNGH	8.0	6.0	unscreened	-	1913_2:97520089-97520089 C>T_QKAEDPSQPDSASYTALHYASRNGH
15:49293244-49293244 A>G	1.0	1913	MELANOMA	-	-	-	-	SECISBP2L	ENST00000559471,p.L693P|NM_014701,p.L648P|NM_001193489,p.L693P|uc001zxe.2,p.L693P|ENST00000380927,p.L455P|ENST00000261847,p.L648P|uc001zxd.2,p.L648P|uc010bep.2,p.L455P	retained_intron, protein_coding, processed_transcript	uc010bep.2	nonsynonymous SNV	exon15	c.T1364C	p.L455P	VLCKEIDECVTLLLQELVSFQERIY	VLCKEIDECVTLPLQELVSFQERIY	7.0	9.0	unscreened	-	1913_15:49293244-49293244 A>G_VLCKEIDECVTLPLQELVSFQERIY
9:123912564-123912564 G>A	1.0	1913	MELANOMA	-	-	-	1	CNTRL	uc004bky.1,p.V860I|ENST00000373847,p.V704I|ENST00000373855,p.V1256I|ENST00000238341,p.V1256I|NM_007018,p.V1256I|uc004bla.1,p.V704I|ENST00000373850,p.V704I|uc004bkx.1,p.V1256I	protein_coding, processed_transcript	uc004bla.1	nonsynonymous SNV	exon14	c.G2110A	p.V704I	YMMYTVLPDGSPVPQGMALYAPPPP	YMMYTVLPDGSPIPQGMALYAPPPP	8.0	2.0	unscreened	-	1913_9:123912564-123912564 G>A_YMMYTVLPDGSPIPQGMALYAPPPP
X:53224172-53224172 T>C	1.0	1913	MELANOMA	-	-	-	1	KDM5C	uc004dsa.3,p.K1126E|ENST00000404049,p.K1126E|ENST00000375379,p.K1127E|ENST00000375383,p.K1086E|NM_001146702,p.K1060E|ENST00000452825,p.K1060E|uc022bxe.1,p.K1060E|NM_004187,p.K1127E|uc004drz.3,p.K1127E|ENST00000375401,p.K1127E|NM_001282622,p.K1126E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022bxe.1	nonsynonymous SNV	exon20	c.A3178G	p.K1060E	RSRWMEKELGLYKSDTELLGLSAQD	RSRWMEKELGLYESDTELLGLSAQD	9.0	9.0	unscreened	-	1913_X:53224172-53224172 T>C_RSRWMEKELGLYESDTELLGLSAQD
6:33169563-33169563 T>G	1.0	1913	MELANOMA	-	-	-	-	SLC39A7	NM_006979,p.F151L|uc003odf.3,p.F151L|ENST00000444757,p.F61L|ENST00000374675,p.F151L|ENST00000374677,p.F151L|uc003odg.3,p.F151L|NM_001077516,p.F151L	protein_coding, processed_transcript	uc003odg.3	nonsynonymous SNV	exon2	c.T453G	p.F151L	LGATVLISAAPFFVLFLIPVESNSP	LGATVLISAAPFLVLFLIPVESNSP	10.0	8.0	unscreened	-	1913_6:33169563-33169563 T>G_LGATVLISAAPFLVLFLIPVESNSP
6:33169563-33169563 T>G	1.0	1913	MELANOMA	-	-	-	-	SLC39A7	NM_001288777,p.F26L|uc011dqv.2,p.F26L	protein_coding, processed_transcript	uc011dqv.2	nonsynonymous SNV	exon3	c.T78G	p.F26L	ATATVLISAAPFFVLFLIPVESNSP	ATATVLISAAPFLVLFLIPVESNSP	10.0	8.0	unscreened	-	1913_6:33169563-33169563 T>G_ATATVLISAAPFLVLFLIPVESNSP
9:21971178-21971179 CG>-, 9:21971181-21971181 C>A	1.0	1913	MELANOMA	-	-	-	1	CDKN2A	ENST00000530628,p.G74fs|NM_058195,p.G74fs|ENST00000579755,p.G74fs|uc003zpl.3,p.G74fs|ENST00000361570,p.G115fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zpl.3	frameshift deletion	exon2	c.222_223del	p.G74fs	RRPGHDDGQRPSGGAAAAPRRGAQL	RRPGHDDGQRPSGSCCCSTARSPTAPTPPLSPDPCTTLPGRASWTRWWCCTGPGRGWTCAMPGAVCPWTWLRSWATA	10.0	9.0	CD8	fs,snv,coded into 3'UTR PR	1913_9:21971178-21971179 CG>-, 9:21971181-21971181 C>A_RRPGHDDGQRPSGSCCCSTARSPTAPTPPLSPDPCTTLPGRASWTRWWCCTGPGRGWTCAMPGAVCPWTWLRSWATA
11:60899755-60899755 G>A	1.0	1913	MELANOMA	-	-	-	-	VPS37C	NM_017966,p.P202L|uc001nqv.1,p.P202L|ENST00000301765,p.P202L	retained_intron, protein_coding	uc001nqv.1	nonsynonymous SNV	exon5	c.C605T	p.P202L	VEEQPQPPLAMPPYPLPYSPSPSLP	VEEQPQPPLAMPLYPLPYSPSPSLP	7.0	8.0	unscreened	-	1913_11:60899755-60899755 G>A_VEEQPQPPLAMPLYPLPYSPSPSLP
2:175301067-175301067 G>A	1.0	1913	MELANOMA	-	-	-	-	GPR155	uc002uiv.4,p.S797F|uc002uiu.4,p.S797F|NM_001267050,p.S797F|uc010fqs.4,p.S769F|NM_001033045,p.S797F|ENST00000295500,p.S797F|NM_001267051,p.S769F|ENST00000392552,p.S797F|ENST00000392551,p.S797F|uc002uit.4,p.S797F|NM_152529,p.S797F	protein_coding, processed_transcript	uc010fqs.4	nonsynonymous SNV	exon15	c.C2306T	p.S769F	DLVSWLIEVGLASDRGEAVIYGDRL	DLVSWLIEVGLAFDRGEAVIYGDRL	8.0	4.0	unscreened	-	1913_2:175301067-175301067 G>A_DLVSWLIEVGLAFDRGEAVIYGDRL
11:18316711-18316711 G>A	1.0	1913	MELANOMA	-	-	-	-	HPS5	ENST00000396253,p.S433F|uc001mod.1,p.S547F|ENST00000349215,p.S547F|NM_007216,p.S433F|uc001mof.1,p.S433F|NM_181507,p.S547F|uc001moe.1,p.S433F|NM_181508,p.S433F|ENST00000438420,p.S433F	retained_intron, protein_coding, processed_transcript	uc001mof.1	nonsynonymous SNV	exon13	c.C1298T	p.S433F	PLVSLQAVKESVSSFVRKTTEKIGT	PLVSLQAVKESVFSFVRKTTEKIGT	8.0	8.0	unscreened	-	1913_11:18316711-18316711 G>A_PLVSLQAVKESVFSFVRKTTEKIGT
2:86386687-86386687 A>G	1.0	1913	MELANOMA	-	-	-	-	IMMT	uc002sre.3,p.I323T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002sre.3	nonsynonymous SNV	exon9	c.T968C	p.I323T	HITAAEGKLHNMIVDLDNVVKKVCF	HITAAEGKLHNMTVDLDNVVKKVCF	10.0	5.0	unscreened	-	1913_2:86386687-86386687 A>G_HITAAEGKLHNMTVDLDNVVKKVCF
1:21573804-21573804 G>A	1.0	1913	MELANOMA	-	-	-	-	ECE1	uc009vqa.1,p.P358L|uc010odl.1,p.P358L|uc001bei.2,p.P355L|ENST00000436918,p.P358L|uc001bem.2,p.P342L|ENST00000374893,p.P358L|ENST00000264205,p.P355L|NM_001113349,p.P355L|ENST00000415912,p.P342L|NM_001397,p.P358L|NM_001113348,p.P342L|ENST00000357071,p.P346L|NM_001113347,p.P346L|uc001bej.2,p.P346L|uc001bek.2,p.P358L	retained_intron, protein_coding, processed_transcript	uc010odl.1	nonsynonymous SNV	exon9	c.C1073T	p.P358L	INWLPFLNTIFYPVEINESEPIVVY	INWLPFLNTIFYLVEINESEPIVVY	10.0	1.0	unscreened	-	1913_1:21573804-21573804 G>A_INWLPFLNTIFYLVEINESEPIVVY
8:23423762-23423762 C>T	1.0	1913	MELANOMA	-	-	-	-	SLC25A37	uc003xdn.1,p.H118Y|ENST00000519973,p.H118Y|ENST00000417331,p.H118Y|NM_016612,p.H118Y|uc003xdo.3,p.H118Y|ENST00000523930,p.H99Y|ENST00000290075,p.H118Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xdo.3	nonsynonymous SNV	exon2	c.C352T	p.H118Y	GVNVMIMGAGPAHAMYFACYENMKR	GVNVMIMGAGPAYAMYFACYENMKR	9.0	4.0	unscreened	-	1913_8:23423762-23423762 C>T_GVNVMIMGAGPAYAMYFACYENMKR
1:111989759-111989759 C>T	1.0	1913	MELANOMA	-	-	-	-	WDR77	uc001ebb.3,p.V151I|ENST00000235090,p.V151I|uc021orq.1,p.V151I|NM_024102,p.V151I	protein_coding, processed_transcript	uc021orq.1	nonsynonymous SNV	exon4	c.G451A	p.V151I	QAVSGSKDICIKVWDLAQQVVLSSY	QAVSGSKDICIKIWDLAQQVVLSSY	9.0	9.0	unscreened	-	1913_1:111989759-111989759 C>T_QAVSGSKDICIKIWDLAQQVVLSSY
1:22413254-22413254 G>-	1.0	1913	MELANOMA	-	-	-	-	CDC42	ENST00000400259,p.E127fs|uc001bfr.3,p.E127fs|NM_044472,p.E127fs|ENST00000315554,p.E127fs|NM_001791,p.E127fs|ENST00000344548,p.E127fs|uc009vqg.1,p.E127fs|uc001bfq.3,p.E127fs|uc010odr.2,p.E172fs|ENST00000421089,p.E169fs|NM_001039802,p.E127fs|uc001bfp.3,p.E127fs|uc009vqh.3,p.E86fs|uc010ods.2,p.E169fs	protein_coding, processed_transcript	uc010ods.2	frameshift deletion	exon6	c.507delG	p.E169fs	TQIDLRDDPSTIEKLAKNKQKPITP	TQIDLRDDPSTIENLPRTNRSLSLQRLLKSWPVT	10.0	1.0	unscreened	-	1913_1:22413254-22413254 G>-_TQIDLRDDPSTIENLPRTNRSLSLQRLLKSWPVT
7:149541756-149541756 G>A	1.0	1913	MELANOMA	-	-	-	-	ZNF862	NM_001099220,p.E23K|uc010lpn.3,p.E23K|ENST00000223210,p.E23K	retained_intron, protein_coding, processed_transcript	uc010lpn.3	nonsynonymous SNV	exon2	c.G67A	p.E23K	VTFDDITVYLLQEEWVLLSQQQKEL	VTFDDITVYLLQKEWVLLSQQQKEL	7.0	5.0	unscreened	-	1913_7:149541756-149541756 G>A_VTFDDITVYLLQKEWVLLSQQQKEL
17:10532921-10532921 G>A	1.0	1913	MELANOMA	-	-	-	-	MYH3	NM_002470,p.S1930F|ENST00000583535,p.S1930F|uc002gmq.2,p.S1930F|ENST00000226209,p.S1930F	retained_intron, protein_coding	uc002gmq.2	nonsynonymous SNV	exon40	c.C5789T	p.S1930F	VNKLRAKTRDFTSSRMVVHESEE	VNKLRAKTRDFTFSRMVVHESEE	6.0	5.0	unscreened	-	1913_17:10532921-10532921 G>A_VNKLRAKTRDFTFSRMVVHESEE
10:95892198-95892198 G>A	1.0	1913	MELANOMA	-	-	-	-	PLCE1	ENST00000371375,p.G184R|ENST00000371380,p.G492R|uc001kjk.3,p.G492R|NM_001165979,p.G184R|NM_001288989,p.G492R|NM_016341,p.G492R|uc001kjm.3,p.G184R|uc010qnx.2,p.G492R|ENST00000371385,p.G184R|ENST00000260766,p.G492R	protein_coding, processed_transcript	uc010qnx.2	nonsynonymous SNV	exon2	c.G1474A	p.G492R	RSGLLSTFGGSTGRMMLKERQPGPS	RSGLLSTFGGSTRRMMLKERQPGPS	6.0	5.0	unscreened	-	1913_10:95892198-95892198 G>A_RSGLLSTFGGSTRRMMLKERQPGPS
17:73729654-73729654 C>-	1.0	1913	MELANOMA	-	-	-	-	ITGB4	uc010wsh.1,p.S68fs	retained_intron, protein_coding, processed_transcript	uc010wsh.1	frameshift deletion	exon3	c.203delC	p.S68fs	QPCLREGEDKPCSGRGECQCGHCVC	QPCLREGEDKPCSAVGSASAGTVCATAKAATRVSSASMTTSSVPALPGSSAMTEDAAPWASVCVSLVGQAQAVTVPSAMPPASTAMGASVMDVATVSVAAATATSSRSTRTPSARSTTRRSTRASARTYAPACSARRGAPARRRGARVRNATSRSRWWTSLREVGAGA	6.0	3.0	unscreened	-	1913_17:73729654-73729654 C>-_QPCLREGEDKPCSAVGSASAGTVCATAKAATRVSSASMTTSSVPALPGSSAMTEDAAPWASVCVSLVGQAQAVTVPSAMPPASTAMGASVMDVATVSVAAATATSSRSTRTPSARSTTRRSTRASARTYAPACSARRGAPARRRGARVRNATSRSRWWTSLREVGAGA
17:73729654-73729654 C>-	1.0	1913	MELANOMA	-	-	-	-	ITGB4	ENST00000450894,p.S513fs|uc010dgp.1,p.S513fs|ENST00000200181,p.S513fs|NM_001005619,p.S513fs|ENST00000579662,p.S513fs|ENST00000449880,p.S513fs|NM_000213,p.S513fs|uc002jph.3,p.S513fs|uc002jpj.3,p.S513fs|uc002jpi.4,p.S513fs|ENST00000339591,p.S513fs|uc010dgo.3,p.S513fs|NM_001005731,p.S513fs|uc002jpg.3,p.S513fs	retained_intron, protein_coding, processed_transcript	uc010dgp.1	frameshift deletion	exon12	c.1538delC	p.S513fs	QPCLREGEDKPCSGRGECQCGHCVC	QPCLREGEDKPCSAVGSASAGTVCATAKAATRVSSASMTTSSVPALPGSSAMTEDAAPWASVCVSLVGQAQAVTVPSAMPPASTAMGASVMDVATVSVAAATATSSRSTRTPSARSTTRRSTRASARTYAPACSARRGAPARRRGARVRNATSRSRWWTSLREPRRWWCAAPSGTRMTTAPTATPWKVTAPLGPTALSWCTRRRTALRAPSGGSSPCSSSSCRSWPCYCCYAGSTVPAARPAWHFSRAATEVTWWALRKTTTCCGRT	6.0	3.0	unscreened	-	1913_17:73729654-73729654 C>-_QPCLREGEDKPCSAVGSASAGTVCATAKAATRVSSASMTTSSVPALPGSSAMTEDAAPWASVCVSLVGQAQAVTVPSAMPPASTAMGASVMDVATVSVAAATATSSRSTRTPSARSTTRRSTRASARTYAPACSARRGAPARRRGARVRNATSRSRWWTSLREPRRWWCAAPSGTRMTTAPTATPWKVTAPLGPTALSWCTRRRTALRAPSGGSSPCSSSSCRSWPCYCCYAGSTVPAARPAWHFSRAATEVTWWALRKTTTCCGRT
1:27687879-27687879 G>A	1.0	1913	MELANOMA	-	-	-	-	MAP3K6	NM_004672,p.P565L|ENST00000357582,p.P565L|uc001bny.1,p.P565L|ENST00000493901,p.P565L|NM_001297609,p.P557L|uc001bnz.1,p.P88L|ENST00000374040,p.P557L|uc009vsw.1,p.P557L	retained_intron, protein_coding, processed_transcript	uc009vsw.1	nonsynonymous SNV	exon11	c.C1670T	p.P557L	TLSLLEPETQDIPSSWTFPVASICG	TLSLLEPETQDILSSWTFPVASICG	9.0	2.0	unscreened	-	1913_1:27687879-27687879 G>A_TLSLLEPETQDILSSWTFPVASICG
21:42613777-42613777 C>A	1.0	1913	MELANOMA	-	-	-	-	BACE2	uc002yyx.3,p.S217Y|ENST00000328735,p.S217Y|uc002yyy.3,p.S217Y|NM_138991,p.S217Y|NM_012105,p.S217Y|uc002yyw.3,p.S217Y|NM_138992,p.S217Y|ENST00000347667,p.S217Y|ENST00000330333,p.S217Y	retained_intron, protein_coding, processed_transcript	uc002yyy.3	nonsynonymous SNV	exon4	c.C650A	p.S217Y	AKPSSSLETFFDSLVTQANIPNVFS	AKPSSSLETFFDYLVTQANIPNVFS	10.0	5.0	unscreened	-	1913_21:42613777-42613777 C>A_AKPSSSLETFFDYLVTQANIPNVFS
13:24823913-24823913 C>T	1.0	1913	MELANOMA	-	-	-	-	SPATA13	NM_001166271,p.S651F|ENST00000382108,p.S651F|uc001upd.3,p.S713F|uc021rhg.1,p.S651F|NM_153023,p.S26F|NM_001286792,p.S713F|ENST00000424834,p.S651F|ENST00000382095,p.S26F|uc001upg.2,p.S26F	protein_coding, processed_transcript, nonsense_mediated_decay	uc021rhg.1	nonsynonymous SNV	exon3	c.C1952T	p.S651F	GCPKGARRRRPISVIGGVSLYGTNQ	GCPKGARRRRPIFVIGGVSLYGTNQ	9.0	9.0	unscreened	-	1913_13:24823913-24823913 C>T_GCPKGARRRRPIFVIGGVSLYGTNQ
2:152293352-152293352 C>T	1.0	1913	MELANOMA	-	-	ID=COSM1691152;OCCURENCE=1(skin)	-	RIF1	ENST00000430328,p.P403S|ENST00000444746,p.P403S|uc002txm.3,p.P403S|NM_001177664,p.P403S|ENST00000428287,p.P403S|uc010fnv.2,p.P367S|ENST00000453091,p.P403S|uc002txn.3,p.P403S|NM_001177665,p.P403S|uc002txo.3,p.P403S|NM_001177663,p.P403S|NM_018151,p.P403S|ENST00000243326,p.P403S|uc002txl.3,p.P403S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010fnv.2	nonsynonymous SNV	exon11	c.C1099T	p.P367S	NPMTPVHKGASSPYGAPGTPRMNLS	NPMTPVHKGASSSYGAPGTPRMNLS	7.0	8.0	unscreened	-	1913_2:152293352-152293352 C>T_NPMTPVHKGASSSYGAPGTPRMNLS
1:109538457-109538457 G>A	1.0	1913	MELANOMA	-	-	-	-	WDR47	uc001dwl.3,p.S487F|uc010ovf.2,p.S406F|ENST00000361054,p.S451F|ENST00000400794,p.S487F|uc001dwk.2,p.S451F|NM_001142551,p.S479F|NM_014969,p.S480F|ENST00000369965,p.S480F|ENST00000357672,p.S451F|uc001dwj.3,p.S479F|ENST00000369962,p.S479F|NM_001142550,p.S487F|uc001dwi.3,p.S480F	protein_coding	uc010ovf.2	nonsynonymous SNV	exon6	c.C1217T	p.S406F	QQQNLTEQFLNRSIQKLGELNIGMD	QQQNLTEQFLNRFIQKLGELNIGMD	6.0	9.0	unscreened	-	1913_1:109538457-109538457 G>A_QQQNLTEQFLNRFIQKLGELNIGMD
2:179247243-179247243 C>T	1.0	1913	MELANOMA	-	-	-	-	MIR548N	ENST00000357080,p.H477Y|uc002ulw.3,p.H477Y	protein_coding, processed_transcript	uc002ulw.3	nonsynonymous SNV	exon14	c.C1429T	p.H477Y	SVADNISRQSMHHLSFQVVLSTCQI	SVADNISRQSMHYLSFQVVLSTCQI	6.0	3.0	unscreened	-	1913_2:179247243-179247243 C>T_SVADNISRQSMHYLSFQVVLSTCQI
6:29910564-29910564 C>T	1.0	1913	MELANOMA	-	-	-	1	HLA-A	uc003nol.3,p.S35F|ENST00000376809,p.S35F|ENST00000376802,p.S35F|ENST00000396634,p.S35F|NM_002116,p.S35F|ENST00000376806,p.S35F|NM_001242758,p.S35F|uc021ytz.1,p.S35F	retained_intron, protein_coding	uc021ytz.1	nonsynonymous SNV	exon2	c.C104T	p.S35F	WAGSHSMRYFFTSVSRPGRGEPRFI	WAGSHSMRYFFTFVSRPGRGEPRFI	10.0	1.0	unscreened	-	1913_6:29910564-29910564 C>T_WAGSHSMRYFFTFVSRPGRGEPRFI
19:20727859-20727859 G>A	1.0	1913	MELANOMA	-	-	-	-	ZNF737	NM_001159293,p.L384F|ENST00000427401,p.L384F|uc002npa.3,p.L384F	protein_coding, nonsense_mediated_decay	uc002npa.3	nonsynonymous SNV	exon4	c.C1150T	p.L384F	EECGKAFNWSSHLTTHKRIHTGEKP	EECGKAFNWSSHFTTHKRIHTGEKP	6.0	8.0	unscreened	-	1913_19:20727859-20727859 G>A_EECGKAFNWSSHFTTHKRIHTGEKP
14:75538331-75538331 C>T	1.0	1913	MELANOMA	0.0005	-	-	-	ZC2HC1C	ENST00000524913,p.P352L|NM_024643,p.P352L|uc001xrh.3,p.P352L|ENST00000238686,p.P352L	protein_coding, processed_transcript	uc001xrh.3	nonsynonymous SNV	exon2	c.C1055T	p.P352L	DPVSEPSVEKFSPPSETPVGALQGS	DPVSEPSVEKFSLPSETPVGALQGS	6.0	2.0	unscreened	-	1913_14:75538331-75538331 C>T_DPVSEPSVEKFSLPSETPVGALQGS
19:14589290-14589290 G>A	1.0	1913	MELANOMA	-	-	-	-	GIPC1	uc002myu.4,p.P314S|ENST00000589631,p.P109S|NM_202468,p.P314S|ENST00000591349,p.P217S|NM_202470,p.P314S|ENST00000393033,p.P314S|NM_005716,p.P314S|ENST00000393029,p.P217S|ENST00000393028,p.P217S|uc002myt.4,p.P314S|uc002myy.4,p.P217S|uc002myw.4,p.P217S|ENST00000586027,p.P314S|NM_202469,p.P217S|ENST00000345425,p.P314S|uc002myx.4,p.P314S|NM_202494,p.P217S	retained_intron, protein_coding, nonsense_mediated_decay	uc002myy.4	nonsynonymous SNV	exon6	c.C649T	p.P217S	EALDERLGDFAFPDEFVFDVWGAIG	EALDERLGDFAFSDEFVFDVWGAIG	10.0	8.0	unscreened	-	1913_19:14589290-14589290 G>A_EALDERLGDFAFSDEFVFDVWGAIG
16:58437069-58437069 C>T	1.0	1913	MELANOMA	-	-	-	-	GINS3	uc010cdj.3,p.S124F|ENST00000426538,p.S124F|uc002enh.4,p.S85F|NM_022770,p.S85F|ENST00000318129,p.S85F|NM_001126129,p.S124F	retained_intron, protein_coding, processed_transcript	uc010cdj.3	nonsynonymous SNV	exon3	c.C371T	p.S124F	AKGLFDNKRRILSVELPKIYQEGWR	AKGLFDNKRRILFVELPKIYQEGWR	8.0	6.0	unscreened	-	1913_16:58437069-58437069 C>T_AKGLFDNKRRILFVELPKIYQEGWR
19:10463219-10463219 G>A	1.0	1913	MELANOMA	-	-	-	-	TYK2	ENST00000524462,p.P885L|NM_003331,p.P1070L|ENST00000264818,p.P1070L|ENST00000529739,p.P93L|ENST00000525621,p.P1070L|uc002moc.4,p.P1070L|uc010dxe.3,p.P885L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dxe.3	nonsynonymous SNV	exon19	c.C2654T	p.P885L	REDGDSPVFWYAPECLKEYKFYYAS	REDGDSPVFWYALECLKEYKFYYAS	10.0	7.0	unscreened	-	1913_19:10463219-10463219 G>A_REDGDSPVFWYALECLKEYKFYYAS
12:78513718-78513718 T>A	1.0	1913	MELANOMA	-	-	-	-	NAV3	ENST00000266692,p.F1248I|uc009zsf.3,p.F256I	retained_intron, protein_coding, processed_transcript	uc009zsf.3	nonsynonymous SNV	exon2	c.T766A	p.F256I	PGSKYPDIASPTFRRYTPSSRQANQ	PGSKYPDIASPTIRRYTPSSRQANQ	6.0	7.0	unscreened	-	1913_12:78513718-78513718 T>A_PGSKYPDIASPTIRRYTPSSRQANQ
14:74407695-74407695 G>A	1.0	1913	MELANOMA	-	-	-	-	FAM161B	ENST00000534936,p.S445F|NM_152445,p.S508F|ENST00000286544,p.S508F|uc001xpd.3,p.S508F	protein_coding	uc001xpd.3	nonsynonymous SNV	exon5	c.C1523T	p.S508F	PLPRSRSLSGLASLSANTLPVHITD	PLPRSRSLSGLAFLSANTLPVHITD	8.0	3.0	unscreened	-	1913_14:74407695-74407695 G>A_PLPRSRSLSGLAFLSANTLPVHITD
14:93178267-93178267 G>A	1.0	1913	MELANOMA	-	-	-	-	LGMN	NM_001008530,p.S215L|ENST00000555699,p.S215L|uc001yaw.3,p.S215L|ENST00000393218,p.S215L|ENST00000334869,p.S215L|uc001yau.3,p.S215L|NM_005606,p.S215L|uc001yav.3,p.S215L|ENST00000557434,p.S215L|uc001yat.3,p.S215L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001yaw.3	nonsynonymous SNV	exon9	c.C644T	p.S215L	NVYATTAANPRESSYACYYDEKRST	NVYATTAANPRELSYACYYDEKRST	10.0	9.0	unscreened	-	1913_14:93178267-93178267 G>A_NVYATTAANPRELSYACYYDEKRST
22:43231487-43231487 G>A	1.0	1913	MELANOMA	-	-	-	-	ARFGAP3	uc003bdd.2,p.H92Y|ENST00000263245,p.H92Y|ENST00000435208,p.H70Y|NM_014570,p.H92Y	retained_intron, protein_coding	uc003bdd.2	nonsynonymous SNV	exon4	c.C274T	p.H92Y	QVGGNASASSFFHQHGCSTNDTNAK	QVGGNASASSFFYQHGCSTNDTNAK	9.0	5.0	unscreened	-	1913_22:43231487-43231487 G>A_QVGGNASASSFFYQHGCSTNDTNAK
19:10600453-10600453 G>A	1.0	1913	MELANOMA	-	-	-	1	KEAP1	uc002mor.1,p.L468F|NM_012289,p.L468F|ENST00000171111,p.L468F|NM_203500,p.L468F|ENST00000393623,p.L468F|uc002mop.1,p.L186F|uc002moq.1,p.L468F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mor.1	nonsynonymous SNV	exon4	c.C1402T	p.L468F	MLTRRIGVGVAVLNRLLYAVGGFDG	MLTRRIGVGVAVFNRLLYAVGGFDG	9.0	9.0	unscreened	-	1913_19:10600453-10600453 G>A_MLTRRIGVGVAVFNRLLYAVGGFDG
9:124094757-124094757 C>T	1.0	1913	MELANOMA	-	-	-	-	GSN	uc010mvs.1,p.T691M|ENST00000373823,p.T691M|uc010mvv.1,p.T691M|uc011lyh.2,p.T708M|ENST00000373808,p.T691M|NM_001127664,p.T691M|ENST00000394353,p.T702M|uc011lyi.2,p.T699M|uc010mvq.1,p.T702M|ENST00000412819,p.T691M|uc004ble.1,p.T691M|NM_000177,p.T742M|ENST00000436847,p.T702M|NM_198252,p.T691M|NM_001127665,p.T691M|uc010mvu.2,p.T727M|uc004blf.1,p.T742M|ENST00000341272,p.T691M|NM_001258030,p.T699M|NM_001127667,p.T702M|NM_001258029,p.T708M|uc010mvt.1,p.T691M|ENST00000373818,p.T742M|uc011lyj.1,p.T715M|ENST00000373806,p.T167M|uc010mvr.1,p.T702M|ENST00000449733,p.T691M|uc004bld.1,p.T691M|NM_001127662,p.T691M|ENST00000545652,p.T699M|NM_001127666,p.T702M|NM_001127663,p.T727M	protein_coding, processed_transcript	uc011lyj.1	nonsynonymous SNV	exon16	c.C2144T	p.T715M	YIETDPANRDRRTPITVVKQGFEPP	YIETDPANRDRRMPITVVKQGFEPP	10.0	8.0	unscreened	-	1913_9:124094757-124094757 C>T_YIETDPANRDRRMPITVVKQGFEPP
3:52283027-52283027 G>A	1.0	1913	MELANOMA	-	-	-	-	PPM1M	NM_144641,p.R345K|ENST00000409502,p.R133K|NM_001122870,p.R133K|ENST00000457351,p.R345K|uc011bed.2,p.R345K|ENST00000296487,p.R184K|uc003ddf.4,p.R184K|uc003ddh.4,p.R55K|ENST00000323588,p.R184K|uc003ddg.4,p.R133K	retained_intron, protein_coding	uc011bed.2	nonsynonymous SNV	exon8	c.G1034A	p.R345K	LAVSRGLGDHQLRVLDTNIQLKPFL	LAVSRGLGDHQLKVLDTNIQLKPFL	9.0	4.0	unscreened	-	1913_3:52283027-52283027 G>A_LAVSRGLGDHQLKVLDTNIQLKPFL
1:155984844-155984844 G>A	1.0	1913	MELANOMA	-	-	-	-	SSR2	ENST00000480567,p.H91Y|ENST00000531917,p.H91Y|NM_003145,p.H91Y|ENST00000474377,p.H91Y|ENST00000466905,p.H91Y|ENST00000295702,p.H91Y|uc001fmx.3,p.H91Y|uc010pgw.2,p.H110Y	retained_intron, protein_coding, nonsense_mediated_decay	uc010pgw.2	nonsynonymous SNV	exon4	c.C328T	p.H110Y	KWDRIAPASNVSHTVVLRPLKAGYF	KWDRIAPASNVSYTVVLRPLKAGYF	10.0	8.0	unscreened	-	1913_1:155984844-155984844 G>A_KWDRIAPASNVSYTVVLRPLKAGYF
15:66794218-66794218 A>T	1.0	1913	MELANOMA	-	-	-	-	RPL4	ENST00000568588,p.L58M|uc002apx.3,p.L58M|uc010ujq.2,p.L152M|ENST00000307961,p.L152M|uc002apv.3,p.L152M|NM_000968,p.L152M	retained_intron, protein_coding, processed_transcript	uc010ujq.2	nonsynonymous SNV	exon5	c.T454A	p.L152M	KGHRIEEVPELPLVVEDKVEGYKKT	KGHRIEEVPELPMVVEDKVEGYKKT	10.0	8.0	unscreened	-	1913_15:66794218-66794218 A>T_KGHRIEEVPELPMVVEDKVEGYKKT
2:197712716-197712716 G>A	1.0	1913	MELANOMA	-	-	-	-	PGAP1	uc002utx.3,p.P462L|uc002utw.3,p.P636L|ENST00000354764,p.P636L|NM_024989,p.P636L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002utx.3	nonsynonymous SNV	exon22	c.C1385T	p.P462L	LEYATMLDKEAKPYKVDPFVIIIKF	LEYATMLDKEAKLYKVDPFVIIIKF	8.0	3.0	unscreened	-	1913_2:197712716-197712716 G>A_LEYATMLDKEAKLYKVDPFVIIIKF
14:77767590-77767590 G>A	1.0	1913	MELANOMA	-	-	-	-	POMT2	uc001xti.2,p.P220L|ENST00000261534,p.P220L|uc010asr.2,p.P109L|NM_013382,p.P220L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010asr.2	nonsynonymous SNV	exon5	c.C326T	p.P109L	LSMVKYNSCADRPFSAPWWFWLSLT	LSMVKYNSCADRLFSAPWWFWLSLT	9.0	6.0	unscreened	-	1913_14:77767590-77767590 G>A_LSMVKYNSCADRLFSAPWWFWLSLT
19:14273514-14273514 C>T	1.0	1913	MELANOMA	-	-	ID=COSM1189908;OCCURENCE=1(lung)	-	LPHN1	uc010xnn.2,p.V372I|NM_014921,p.V367I|uc010xno.2,p.V367I|ENST00000361434,p.V367I|NM_001008701,p.V372I|ENST00000340736,p.V372I	retained_intron, protein_coding, processed_transcript	uc010xno.2	nonsynonymous SNV	exon5	c.G1099A	p.V367I	LTFPNPYQFISSVDYNPRDNQLYVW	LTFPNPYQFISSIDYNPRDNQLYVW	7.0	1.0	unscreened	-	1913_19:14273514-14273514 C>T_LTFPNPYQFISSIDYNPRDNQLYVW
8:126040885-126040885 G>A	1.0	1913	MELANOMA	-	-	-	-	KIAA0196	NM_014846,p.R1134W|ENST00000517845,p.R986W|uc011lir.2,p.R986W|ENST00000318410,p.R1134W|uc003yrt.3,p.R1134W	retained_intron, protein_coding, processed_transcript	uc011lir.2	nonsynonymous SNV	exon26	c.C2956T	p.R986W	VVGALLFLEDYVRYTKLPRRVAEAH	VVGALLFLEDYVWYTKLPRRVAEAH	8.0	1.0	unscreened	-	1913_8:126040885-126040885 G>A_VVGALLFLEDYVWYTKLPRRVAEAH
2:224463490-224463490 C>T	1.0	1913	MELANOMA	-	-	-	-	SCG2	NM_003469,p.E171K|uc021vxk.1,p.E171K|ENST00000305409,p.E171K|uc002vnm.3,p.E171K	protein_coding	uc021vxk.1	nonsynonymous SNV	exon1	c.G511A	p.E171K	RKLKHMQFPPMYEENSRDNPFKRTN	RKLKHMQFPPMYKENSRDNPFKRTN	6.0	5.0	unscreened	-	1913_2:224463490-224463490 C>T_RKLKHMQFPPMYKENSRDNPFKRTN
6:35047402-35047402 C>T	1.0	1913	MELANOMA	-	-	-	-	ANKS1A	NM_015245,p.S798F|ENST00000360359,p.S798F|uc003ojx.4,p.S798F|uc010jvp.2,p.S172F	protein_coding, processed_transcript	uc010jvp.2	nonsynonymous SNV	exon17	c.C515T	p.S172F	DYVHSFLSSGYSSIDTVKNLWELEL	DYVHSFLSSGYSFIDTVKNLWELEL	6.0	2.0	unscreened	-	1913_6:35047402-35047402 C>T_DYVHSFLSSGYSFIDTVKNLWELEL
X:128945446-128945446 G>A	1.0	1913	MELANOMA	-	-	-	-	ZDHHC9	uc004euv.3,p.P273S|NM_001008222,p.P273S|NM_016032,p.P273S|uc004euw.3,p.P273S|ENST00000357166,p.P273S|ENST00000371064,p.P273S	protein_coding, processed_transcript	uc004euw.3	nonsynonymous SNV	exon9	c.C817T	p.P273S	KGSWTGKNRVQNPYSHGNIVKNCCE	KGSWTGKNRVQNSYSHGNIVKNCCE	7.0	9.0	unscreened	-	1913_X:128945446-128945446 G>A_KGSWTGKNRVQNSYSHGNIVKNCCE
16:15177399-15177399 G>A	1.0	1913	MELANOMA	-	-	ID=COSM226320;OCCURENCE=1(NS)	-	RRN3	ENST00000327307,p.P180S|NM_018427,p.P213S|uc002dde.3,p.P213S|NM_001301064,p.P183S|ENST00000563559,p.P213S|ENST00000198767,p.P213S|ENST00000564131,p.P213S|ENST00000429751,p.P183S|uc002ddf.1,p.P213S|uc010uzq.2,p.P183S	retained_intron, protein_coding	uc010uzq.2	nonsynonymous SNV	exon7	c.C547T	p.P183S	PWFLMPILVEKFPFVRKSERTLECY	PWFLMPILVEKFSFVRKSERTLECY	8.0	2.0	unscreened	-	1913_16:15177399-15177399 G>A_PWFLMPILVEKFSFVRKSERTLECY
3:183490274-183490274 T>C	1.0	1913	MELANOMA	-	-	-	-	YEATS2	NM_018023,p.V710A|ENST00000305135,p.V710A|uc003fly.2,p.V710A	retained_intron, protein_coding	uc003fly.2	nonsynonymous SNV	exon16	c.T2129C	p.V710A	AKAIVSGGGGTIVAQPVQTLTKAQV	AKAIVSGGGGTIAAQPVQTLTKAQV	7.0	5.0	unscreened	-	1913_3:183490274-183490274 T>C_AKAIVSGGGGTIAAQPVQTLTKAQV
8:48769805-48769805 G>A	1.0	1913	MELANOMA	-	-	-	-	PRKDC	ENST00000314191,p.S2173F|ENST00000338368,p.S2173F	retained_intron, protein_coding, processed_transcript	ENST00000338368	nonsynonymous SNV	exon50	c.C6518T	p.S2173F	KHWLSPLLQLAASENNGGEGIHYMV	KHWLSPLLQLAAFENNGGEGIHYMV	10.0	1.0	unscreened	-	1913_8:48769805-48769805 G>A_KHWLSPLLQLAAFENNGGEGIHYMV
9:35750876-35750876 C>T	1.0	1913	MELANOMA	-	-	-	-	RGP1	uc011lpf.2,p.S126F|NM_001080496,p.S126F|ENST00000456972,p.S166F|ENST00000378078,p.S126F	retained_intron, protein_coding	uc011lpf.2	nonsynonymous SNV	exon5	c.C377T	p.S126F	SYSEVLPIEGPPSFRGQSVKYVYKL	SYSEVLPIEGPPFFRGQSVKYVYKL	7.0	7.0	unscreened	-	1913_9:35750876-35750876 C>T_SYSEVLPIEGPPFFRGQSVKYVYKL
20:49626481-49626481 C>T	1.0	1913	MELANOMA	-	-	-	-	KCNG1	ENST00000439216,p.R132H|ENST00000424171,p.R132H|uc002xwb.3,p.R132H|uc002xwa.4,p.R132H|ENST00000396017,p.R132H|ENST00000371571,p.R132H|NM_002237,p.R132H	protein_coding	uc002xwb.3	nonsynonymous SNV	exon3	c.G395A	p.R132H	NPGAFGTILTFLRAGKLRLLREMCA	NPGAFGTILTFLHAGKLRLLREMCA	9.0	5.0	unscreened	-	1913_20:49626481-49626481 C>T_NPGAFGTILTFLHAGKLRLLREMCA
16:15177399-15177399 G>A	1.0	1913	MELANOMA	-	-	ID=COSM226320;OCCURENCE=1(NS)	-	RRN3	ENST00000540462,p.P64S|uc010uzp.2,p.P114S	retained_intron, protein_coding	uc010uzp.2	nonsynonymous SNV	exon5	c.C340T	p.P114S	PWFLMPILVEKFPFVRKSERTLVNA	PWFLMPILVEKFSFVRKSERTLVNA	8.0	2.0	unscreened	-	1913_16:15177399-15177399 G>A_PWFLMPILVEKFSFVRKSERTLVNA
2:168997176-168997176 G>A	1.0	1913	MELANOMA	-	-	-	-	STK39	ENST00000355999,p.P241S|uc002uea.3,p.P241S|NM_013233,p.P241S	protein_coding, processed_transcript	uc002uea.3	nonsynonymous SNV	exon6	c.C721T	p.P241S	RKTFVGTPCWMAPEVMEQVRGYDFK	RKTFVGTPCWMASEVMEQVRGYDFK	8.0	4.0	unscreened	-	1913_2:168997176-168997176 G>A_RKTFVGTPCWMASEVMEQVRGYDFK
2:86386687-86386687 A>G	1.0	1913	MELANOMA	-	-	-	-	IMMT	uc010ytd.2,p.I323T|uc010yte.2,p.I288T|uc002sqy.4,p.I76T|ENST00000254636,p.I236T|ENST00000449247,p.I324T|NM_006839,p.I335T|ENST00000442664,p.I334T|NM_001100170,p.I324T|uc002sqz.4,p.I335T|uc002sra.4,p.I334T|ENST00000410111,p.I335T|uc002srb.4,p.I324T|NM_001100169,p.I334T|uc002src.1,p.I76T|ENST00000409051,p.I288T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yte.2	nonsynonymous SNV	exon8	c.T863C	p.I288T	HITAAEGKLHNMIVDLDNVVKKVQA	HITAAEGKLHNMTVDLDNVVKKVQA	10.0	5.0	unscreened	-	1913_2:86386687-86386687 A>G_HITAAEGKLHNMTVDLDNVVKKVQA
1:38435129-38435129 G>A	1.0	1913	MELANOMA	-	-	-	-	SF3A3	NM_006802,p.P393L|uc001cci.3,p.P393L|uc010oik.2,p.P340L|ENST00000373019,p.P393L|ENST00000448721,p.P340L	protein_coding, processed_transcript	uc010oik.2	nonsynonymous SNV	exon12	c.C1019T	p.P340L	KNLPLGWDGKPIPYWLYKLHGLNIN	KNLPLGWDGKPILYWLYKLHGLNIN	10.0	4.0	unscreened	-	1913_1:38435129-38435129 G>A_KNLPLGWDGKPILYWLYKLHGLNIN
21:37618876-37618876 C>T	1.0	1913	MELANOMA	0.0005	-	-	-	DOPEY2	ENST00000399151,p.S1533F|uc002yvg.3,p.S1533F|NM_005128,p.S1533F|uc011aeb.2,p.S1482F|uc002yvh.3,p.S384F	retained_intron, protein_coding, processed_transcript	uc011aeb.2	nonsynonymous SNV	exon17	c.C4445T	p.S1482F	SLVTHSLPYFGKSLGWTVTPFVVQI	SLVTHSLPYFGKFLGWTVTPFVVQI	6.0	5.0	unscreened	-	1913_21:37618876-37618876 C>T_SLVTHSLPYFGKFLGWTVTPFVVQI
3:52521834-52521834 C>T	1.0	1913	MELANOMA	-	-	-	-	NISCH	ENST00000345716,p.P776S|ENST00000479054,p.P776S|NM_007184,p.P776S|uc003dee.4,p.P265S|uc003ded.4,p.P776S	retained_intron, protein_coding, processed_transcript	uc003dee.4	nonsynonymous SNV	exon3	c.C793T	p.P265S	PHGDLTEFGFLMPELCLVLKVRHSE	PHGDLTEFGFLMSELCLVLKVRHSE	9.0	8.0	unscreened	-	1913_3:52521834-52521834 C>T_PHGDLTEFGFLMSELCLVLKVRHSE
7:98507896-98507896 C>T	1.0	1913	MELANOMA	-	-	-	1	TRRAP	NM_001244580,p.P523L|NM_003496,p.P523L|uc011kis.2,p.P523L|uc003upp.3,p.P523L|ENST00000446306,p.P523L|ENST00000355540,p.P523L|uc003upr.3,p.P215L|ENST00000359863,p.P523L	retained_intron, protein_coding	uc011kis.2	nonsynonymous SNV	exon15	c.C1568T	p.P523L	PPPPPATPVTPAPVPPFEKQGEKDK	PPPPPATPVTPALVPPFEKQGEKDK	8.0	6.0	unscreened	-	1913_7:98507896-98507896 C>T_PPPPPATPVTPALVPPFEKQGEKDK
11:86055645-86055645 T>C	1.0	1913	MELANOMA	-	-	-	-	C11orf73	ENST00000278483,p.F141L|ENST00000533986,p.F141L|uc010rtp.2,p.F42L|uc001pbu.3,p.F141L|NM_016401,p.F141L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rtp.2	nonsynonymous SNV	exon3	c.T124C	p.F42L	NAAVSSVDSFTQFTQKMLDNFYNFA	NAAVSSVDSFTQLTQKMLDNFYNFA	9.0	8.0	unscreened	-	1913_11:86055645-86055645 T>C_NAAVSSVDSFTQLTQKMLDNFYNFA
15:22851054-22851054 C>T	1.0	1913	MELANOMA	-	-	-	-	TUBGCP5	NM_052903,p.T439I|ENST00000283645,p.T439I|uc001yur.4,p.T439I|NM_001102610,p.T439I|ENST00000453949,p.T439I|uc001yuq.2,p.T439I	retained_intron, protein_coding, processed_transcript	uc001yur.4	nonsynonymous SNV	exon11	c.C1316T	p.T439I	TRNVVRASHLLNTLYKAILEYDNVG	TRNVVRASHLLNILYKAILEYDNVG	7.0	1.0	unscreened	-	1913_15:22851054-22851054 C>T_TRNVVRASHLLNILYKAILEYDNVG
19:3754329-3754329 G>A	1.0	1913	MELANOMA	-	-	-	-	APBA3	ENST00000316757,p.P209L|uc002lyp.1,p.P209L|NM_004886,p.P209L	retained_intron, protein_coding	uc002lyp.1	nonsynonymous SNV	exon4	c.C626T	p.P209L	LASYPAPQEVPGPCDHEDLLDGVIF	LASYPAPQEVPGLCDHEDLLDGVIF	8.0	8.0	unscreened	-	1913_19:3754329-3754329 G>A_LASYPAPQEVPGLCDHEDLLDGVIF
2:189904178-189904178 G>A	1.0	1913	MELANOMA	-	-	-	-	COL5A2	NM_000393,p.P1249S|ENST00000374866,p.P1249S|uc010frx.3,p.P825S|uc002uqk.3,p.P1249S	retained_intron, protein_coding	uc010frx.3	nonsynonymous SNV	exon35	c.C2473T	p.P825S	MGHYDESMPDPLPEFTEDQAAPDDK	MGHYDESMPDPLSEFTEDQAAPDDK	10.0	5.0	unscreened	-	1913_2:189904178-189904178 G>A_MGHYDESMPDPLSEFTEDQAAPDDK
6:152443750-152443750 C>T	1.0	1913	MELANOMA	-	-	-	-	SYNE1	ENST00000341594,p.G8351S|ENST00000423061,p.G8691S|NM_033071,p.G8691S|uc003qos.4,p.G3263S|uc003qou.4,p.G8739S|ENST00000539504,p.G894S|ENST00000367255,p.G8739S|NM_182961,p.G8739S|ENST00000356820,p.G3263S|ENST00000354674,p.G917S|ENST00000448038,p.G8691S|ENST00000265368,p.G8739S|uc003qot.4,p.G8691S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003qou.4	nonsynonymous SNV	exon146	c.G26215A	p.G8739S	SLSEPGPGRSGRGFLFRVLRAALPL	SLSEPGPGRSGRSFLFRVLRAALPL	8.0	2.0	unscreened	-	1913_6:152443750-152443750 C>T_SLSEPGPGRSGRSFLFRVLRAALPL
2:25059814-25059814 G>C	1.0	1913	MELANOMA	-	-	-	-	ADCY3	ENST00000606682,p.S238W|uc010ykm.2,p.S545W|uc002rfr.4,p.S178W|NM_004036,p.S545W|ENST00000260600,p.S545W|ENST00000405392,p.S178W|uc002rfs.4,p.S545W	retained_intron, protein_coding, processed_transcript	uc010ykm.2	nonsynonymous SNV	exon8	c.C1634G	p.S545W	EPNGSAHSSGSTSEKPEEQDAQADN	EPNGSAHSSGSTWEKPEEQDAQADN	9.0	9.0	unscreened	-	1913_2:25059814-25059814 G>C_EPNGSAHSSGSTWEKPEEQDAQADN
22:22287866-22287866 G>A	1.0	1913	MELANOMA	-	-	-	-	PPM1F	uc002zvq.3,p.T215I|ENST00000407142,p.T47I|ENST00000445205,p.T47I|ENST00000263212,p.T215I|ENST00000538191,p.T111I|NM_014634,p.T215I|ENST00000397495,p.T215I|uc011aik.2,p.T111I|uc002zvp.2,p.T215I	protein_coding, processed_transcript	uc011aik.2	nonsynonymous SNV	exon3	c.C332T	p.T111I	VDAARYAAVHVHTNAARQPELPTDP	VDAARYAAVHVHINAARQPELPTDP	9.0	5.0	unscreened	-	1913_22:22287866-22287866 G>A_VDAARYAAVHVHINAARQPELPTDP
16:112868-112868 G>A	1.0	1913	MELANOMA	-	-	-	-	RHBDF1	uc010utz.2,p.R234C|NM_022450,p.R234C|uc010uty.2,p.R257C|uc002cfl.4,p.R234C|ENST00000262316,p.R234C|ENST00000454039,p.R234C	retained_intron, protein_coding, nonsense_mediated_decay	uc010utz.2	nonsynonymous SNV	exon6	c.C700T	p.R234C	LMKGRSVRDGTFRRAQRRSFTPASF	LMKGRSVRDGTFCRAQRRSFTPASF	10.0	8.0	unscreened	-	1913_16:112868-112868 G>A_LMKGRSVRDGTFCRAQRRSFTPASF
2:171700565-171700565 G>A	1.0	1913	MELANOMA	-	-	-	-	GAD1	uc002ugi.3,p.E217K|NM_000817,p.E217K|ENST00000493875,p.E217K|ENST00000358196,p.E217K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ugi.3	nonsynonymous SNV	exon7	c.G649A	p.E217K	LTSTANTNMFTYEIAPVFVLMEQIT	LTSTANTNMFTYKIAPVFVLMEQIT	9.0	5.0	unscreened	-	1913_2:171700565-171700565 G>A_LTSTANTNMFTYKIAPVFVLMEQIT
17:42170127-42170127 C>A	1.0	1913	MELANOMA	-	-	-	-	HDAC5	uc002ife.1,p.G230V|uc002ifh.2,p.G230V|uc002ifd.1,p.G230V|NM_001015053,p.G231V|uc010czp.1,p.G230V|ENST00000336057,p.G230V|uc002iff.1,p.G231V|NM_005474,p.G230V|ENST00000586802,p.G230V|ENST00000393622,p.G230V|ENST00000225983,p.G231V	retained_intron, protein_coding	uc010czp.1	nonsynonymous SNV	exon7	c.G689T	p.G230V	HASLDQSSPPQSGPPGTPPSYKLPL	HASLDQSSPPQSVPPGTPPSYKLPL	7.0	9.0	unscreened	-	1913_17:42170127-42170127 C>A_HASLDQSSPPQSVPPGTPPSYKLPL
15:68504185-68504185 G>A	1.0	1913	MELANOMA	-	-	-	-	CLN6	ENST00000538696,p.P137L|uc010ujz.2,p.P137L|uc002arf.3,p.P105L|ENST00000564752,p.P105L|NM_017882,p.P105L|ENST00000249806,p.P105L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ujz.2	nonsynonymous SNV	exon4	c.C410T	p.P137L	TPFLLLKLIERSPRTLPRSITYVSI	TPFLLLKLIERSLRTLPRSITYVSI	9.0	2.0	unscreened	-	1913_15:68504185-68504185 G>A_TPFLLLKLIERSLRTLPRSITYVSI
8:54791903-54791903 G>A	1.0	1913	MELANOMA	-	-	-	-	RGS20	NM_170587,p.R84K|uc003xrp.3,p.R84K|ENST00000297313,p.R84K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003xrp.3	nonsynonymous SNV	exon2	c.G251A	p.R84K	FGLLSSPLSSLARFFSHLLRRPPPE	FGLLSSPLSSLAKFFSHLLRRPPPE	8.0	5.0	unscreened	-	1913_8:54791903-54791903 G>A_FGLLSSPLSSLAKFFSHLLRRPPPE
9:35700199-35700199 G>A	1.0	1913	MELANOMA	-	-	-	-	TLN1	ENST00000314888,p.R2217W|uc003zxt.2,p.R2217W|NM_006289,p.R2217W|ENST00000540444,p.R2105W	retained_intron, protein_coding, processed_transcript	uc003zxt.2	nonsynonymous SNV	exon49	c.C6649T	p.R2217W	ANLSRRAIADMLRACKEAAYHPEVA	ANLSRRAIADMLWACKEAAYHPEVA	10.0	1.0	unscreened	-	1913_9:35700199-35700199 G>A_ANLSRRAIADMLWACKEAAYHPEVA
7:100482978-100482978 C>T	1.0	1913	MELANOMA	-	-	-	-	SRRT	uc003uxa.2,p.A434V|NM_015908,p.A435V|ENST00000388793,p.A434V|ENST00000347433,p.A435V|NM_001128854,p.A434V|ENST00000448764,p.A65V|NM_001128853,p.A435V|NM_001128852,p.A434V|ENST00000432932,p.A434V|uc003uwy.2,p.A435V|ENST00000457580,p.A435V|uc003uwz.2,p.A435V|uc010lhl.1,p.A434V	retained_intron, protein_coding, nonsense_mediated_decay	uc010lhl.1	nonsynonymous SNV	exon10	c.C1301T	p.A434V	LFMRNIAPNISRAEIISLCKRYPGF	LFMRNIAPNISRVEIISLCKRYPGF	10.0	5.0	unscreened	-	1913_7:100482978-100482978 C>T_LFMRNIAPNISRVEIISLCKRYPGF
3:141161655-141161655 G>T	1.0	1913	MELANOMA	-	-	-	-	ZBTB38	uc021xes.1,p.G142V|uc003etw.3,p.G142V|ENST00000321464,p.G143V|uc010hun.3,p.G139V|ENST00000510726,p.G142V|ENST00000441582,p.G142V|NM_001080412,p.G142V|uc010hup.3,p.G143V|ENST00000509883,p.G142V|uc003ety.3,p.G142V|uc010huo.3,p.G142V|ENST00000514251,p.G142V	retained_intron, protein_coding, processed_transcript	uc021xes.1	nonsynonymous SNV	exon1	c.G425T	p.G142V	SPGPYVFCITEKGVVKEEKNEKRHE	SPGPYVFCITEKVVVKEEKNEKRHE	8.0	1.0	unscreened	-	1913_3:141161655-141161655 G>T_SPGPYVFCITEKVVVKEEKNEKRHE
1:231906800-231906800 C>T	1.0	1913	MELANOMA	-	-	-	-	DISC1	uc010pwq.2,p.P540S|NM_001164549,p.P540S	retained_intron, protein_coding	uc010pwq.2	nonsynonymous SNV	exon6	c.C1618T	p.P540S	ASAGQIPFHAEPPETIRRYC	ASAGQIPFHAEPSETIRRYC	6.0	6.0	unscreened	-	1913_1:231906800-231906800 C>T_ASAGQIPFHAEPSETIRRYC
2:220471237-220471237 C>A	1.0	1913	MELANOMA	-	-	-	-	STK11IP	uc010zll.2,p.Q297K|ENST00000456909,p.Q329K|NM_052902,p.Q340K|uc002vmm.1,p.Q329K|ENST00000295641,p.Q340K|uc002vml.3,p.Q340K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zll.2	nonsynonymous SNV	exon10	c.C889A	p.Q297K	LLDGKVLSLTDFQTHTSLGLSPMGP	LLDGKVLSLTDFKTHTSLGLSPMGP	9.0	4.0	unscreened	-	1913_2:220471237-220471237 C>A_LLDGKVLSLTDFKTHTSLGLSPMGP
12:100723063-100723063 C>T	1.0	1913	MELANOMA	-	-	-	-	SCYL2	ENST00000360820,p.P576L|ENST00000549687,p.P576L|uc001thm.1,p.P576L|NM_017988,p.P576L|uc001thn.3,p.P576L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001thn.3	nonsynonymous SNV	exon13	c.C1727T	p.P576L	EQLAGKVLPHLIPLSIENNLNLNQF	EQLAGKVLPHLILLSIENNLNLNQF	7.0	1.0	unscreened	-	1913_12:100723063-100723063 C>T_EQLAGKVLPHLILLSIENNLNLNQF
6:32805778-32805778 G>A	1.0	1913	MELANOMA	-	-	-	-	TAP2	uc003occ.3,p.S78F|uc003ocb.1,p.S78F|NM_001290043,p.S78F|ENST00000374899,p.S78F|uc003ocd.3,p.S78F|uc011dqf.1,p.S78F|ENST00000374897,p.S78F|ENST00000452392,p.S78F|NM_018833,p.S78F	retained_intron, protein_coding, processed_transcript	uc011dqf.1	nonsynonymous SNV	exon2	c.C233T	p.S78F	LLPLCLATPLTVSLRALVAGASRAP	LLPLCLATPLTVFLRALVAGASRAP	8.0	9.0	unscreened	-	1913_6:32805778-32805778 G>A_LLPLCLATPLTVFLRALVAGASRAP
1:1192649-1192649 G>A	1.0	1913	MELANOMA	-	-	-	-	UBE2J2	ENST00000400929,p.P20S|ENST00000422076,p.P88S|uc001ado.3,p.P88S|NM_194458,p.P20S|ENST00000400930,p.P88S|ENST00000347370,p.P20S|uc001adp.3,p.P72S|NM_194315,p.P88S|uc001adr.3,p.P20S|uc001adm.4,p.P20S|ENST00000348298,p.P20S|NM_194457,p.P20S|ENST00000349431,p.P72S|NM_058167,p.P72S|ENST00000339385,p.P37S|ENST00000360466,p.P72S|uc001adq.3,p.P20S|ENST00000435198,p.P72S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001adr.3	nonsynonymous SNV	exon3	c.C58T	p.P20S	YYHGKLIFPREFPFKPPSIYMITPN	YYHGKLIFPREFSFKPPSIYMITPN	10.0	1.0	unscreened	-	1913_1:1192649-1192649 G>A_YYHGKLIFPREFSFKPPSIYMITPN
1:11345949-11345949 C>T	1.0	1913	MELANOMA	-	-	-	-	UBIAD1	ENST00000376810,p.L260F|NM_013319,p.L260F|uc001asg.3,p.L260F	protein_coding, processed_transcript	uc001asg.3	nonsynonymous SNV	exon2	c.C778T	p.L260F	LAILIGPTFSYILYNTLLFLPYLVF	LAILIGPTFSYIFYNTLLFLPYLVF	9.0	3.0	unscreened	-	1913_1:11345949-11345949 C>T_LAILIGPTFSYIFYNTLLFLPYLVF
19:41727796-41727796 T>G	1.0	1913	MELANOMA	-	-	-	-	AXL	ENST00000359092,p.F141V|NM_021913,p.F141V|uc010ehk.3,p.F141V|ENST00000301178,p.F141V|NM_001699,p.F141V|uc010ehi.1,p.F141V|uc010ehj.3,p.F141V	retained_intron, protein_coding, processed_transcript	uc010ehk.3	nonsynonymous SNV	exon4	c.T421G	p.F141V	QPGYVGLEGLPYFLEEPEDRTVAAN	QPGYVGLEGLPYVLEEPEDRTVAAN	9.0	1.0	unscreened	-	1913_19:41727796-41727796 T>G_QPGYVGLEGLPYVLEEPEDRTVAAN
1:151139451-151139451 C>T	1.0	1913	MELANOMA	-	-	-	-	SCNM1,TNFAIP8L2-SCNM1	uc010pcs.2,p.T55I|ENST00000368902,p.T20I|ENST00000368905,p.T55I|NM_024041,p.T55I|uc001ewz.3,p.T55I|NM_001204856,p.T20I|NM_001204848,p.T20I|ENST00000602841,p.T20I|uc021oyn.1,p.T20I|uc021oyk.1,p.T20I	protein_coding, processed_transcript	uc021oyn.1	nonsynonymous SNV	exon3	c.C59T	p.T20I	ACAICPHRPVLDTLAMLTAHRAGKK	ACAICPHRPVLDILAMLTAHRAGKK	9.0	7.0	unscreened	-	1913_1:151139451-151139451 C>T_ACAICPHRPVLDILAMLTAHRAGKK
19:46387354-46387354 G>A	1.0	1913	MELANOMA	-	-	-	-	IRF2BP1	NM_015649,p.P560L|uc002pds.1,p.P560L|ENST00000302165,p.P560L	protein_coding	uc002pds.1	nonsynonymous SNV	exon1	c.C1679T	p.P560L	SGDKCPLVGSSVPWAFMQGEIATIL	SGDKCPLVGSSVLWAFMQGEIATIL	7.0	6.0	unscreened	-	1913_19:46387354-46387354 G>A_SGDKCPLVGSSVLWAFMQGEIATIL
17:73259565-73259565 C>T	1.0	1913	MELANOMA	-	-	-	-	MRPS7	ENST00000579761,p.L162F	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000579761	nonsynonymous SNV	exon4	c.C484T	p.L162F	KNCEPMIGLVPILKGGRFYQVNEWP	KNCEPMIGLVPIFKGGRFYQVNEWP	10.0	5.0	unscreened	-	1913_17:73259565-73259565 C>T_KNCEPMIGLVPIFKGGRFYQVNEWP
19:4660719-4660719 C>T	1.0	1913	MELANOMA	-	-	-	-	C19orf10	NM_019107,p.E111K|ENST00000599630,p.E111K|ENST00000262947,p.E111K|uc002may.3,p.E111K	retained_intron, protein_coding	uc002may.3	nonsynonymous SNV	exon4	c.G331A	p.E111K	GKSYLYFTQFKAEVRGAEIEYAMAY	GKSYLYFTQFKAKVRGAEIEYAMAY	10.0	2.0	unscreened	-	1913_19:4660719-4660719 C>T_GKSYLYFTQFKAKVRGAEIEYAMAY
22:46712271-46712271 C>T	1.0	1913	MELANOMA	-	-	-	-	GTSE1	uc003bhl.1,p.T90I|ENST00000454366,p.T465I|NM_016426,p.T465I|uc003bhm.1,p.T90I|uc011aqz.2,p.T312I|uc011aqy.2,p.T465I	retained_intron, protein_coding	uc011aqz.2	nonsynonymous SNV	exon6	c.C935T	p.T312I	DSCLNSKTKVMPTPTNQFKIPKFSI	DSCLNSKTKVMPIPTNQFKIPKFSI	9.0	5.0	unscreened	-	1913_22:46712271-46712271 C>T_DSCLNSKTKVMPIPTNQFKIPKFSI
1:39802074-39802074 C>T	1.0	1913	MELANOMA	-	-	-	-	MACF1	ENST00000372915,p.P3277S|ENST00000289893,p.P1712S|ENST00000564288,p.P3272S|ENST00000567887,p.P3309S|uc031pmd.1,p.P1712S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pmd.1	nonsynonymous SNV	exon1	c.C5134T	p.P1712S	TQRGSRVLGSFLPEKLFKGVSQKEN	TQRGSRVLGSFLSEKLFKGVSQKEN	10.0	3.0	unscreened	-	1913_1:39802074-39802074 C>T_TQRGSRVLGSFLSEKLFKGVSQKEN
13:94482794-94482794 C>T	1.0	1913	MELANOMA	-	-	-	-	GPC6	uc001vlu.1,p.S166F	protein_coding	uc001vlu.1	nonsynonymous SNV	exon2	c.C497T	p.S166F	GLTVGREVANRVSKVIENVLSFSLV	GLTVGREVANRVFKVIENVLSFSLV	8.0	9.0	unscreened	-	1913_13:94482794-94482794 C>T_GLTVGREVANRVFKVIENVLSFSLV
17:72769074-72769074 C>T	1.0	1913	MELANOMA	-	-	-	-	NAT9	ENST00000580632,p.E98K|ENST00000581136,p.E99K|ENST00000584022,p.E98K|ENST00000580301,p.E98K|ENST00000581466,p.E68K|ENST00000582870,p.E103K|uc002jlr.3,p.E98K|ENST00000583476,p.E99K|uc002jlq.3,p.E99K|NM_015654,p.E99K|ENST00000579218,p.E98K|ENST00000578822,p.E104K|ENST00000357814,p.E99K|ENST00000582524,p.E99K|ENST00000583757,p.E98K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jlr.3	nonsynonymous SNV	exon4	c.G292A	p.E98K	MVGDVNLFLTDLEDLTLGEIEVMIA	MVGDVNLFLTDLKDLTLGEIEVMIA	10.0	6.0	unscreened	-	1913_17:72769074-72769074 C>T_MVGDVNLFLTDLKDLTLGEIEVMIA
17:44249188-44249188 G>A	1.0	1913	MELANOMA	-	-	-	-	KANSL1	ENST00000574590,p.L108F|uc002ikc.3,p.L108F|ENST00000574655,p.L108F|uc010dav.3,p.L108F|ENST00000571698,p.L108F|NM_001193465,p.L108F|ENST00000572904,p.L108F|ENST00000575318,p.L108F|ENST00000262419,p.L108F|ENST00000432791,p.L108F|uc002ikd.3,p.L108F|NM_015443,p.L108F|NM_001193466,p.L108F	retained_intron, protein_coding, processed_transcript	uc010dav.3	nonsynonymous SNV	exon3	c.C322T	p.L108F	LKLQGVFSKQTVLKSHPLLSQSYEL	LKLQGVFSKQTVFKSHPLLSQSYEL	9.0	1.0	unscreened	-	1913_17:44249188-44249188 G>A_LKLQGVFSKQTVFKSHPLLSQSYEL
12:112103579-112103579 G>A	1.0	1913	MELANOMA	-	-	-	-	BRAP	uc010syh.2,p.P75S|ENST00000539060,p.P75S	protein_coding	uc010syh.2	nonsynonymous SNV	exon3	c.C223T	p.P75S	VLIKFRAQGASLPVMDLTELPKCTV	VLIKFRAQGASLSVMDLTELPKCTV	7.0	2.0	unscreened	-	1913_12:112103579-112103579 G>A_VLIKFRAQGASLSVMDLTELPKCTV
12:112103579-112103579 G>A	1.0	1913	MELANOMA	-	-	-	-	BRAP	ENST00000419234,p.P254S|NM_006768,p.P254S|ENST00000327551,p.P224S|uc009zvv.3,p.P224S|uc001tsn.4,p.P254S	protein_coding	uc009zvv.3	nonsynonymous SNV	exon6	c.C670T	p.P224S	AEVLKSEDGASLPVMDLTELPKCTV	AEVLKSEDGASLSVMDLTELPKCTV	7.0	2.0	unscreened	-	1913_12:112103579-112103579 G>A_AEVLKSEDGASLSVMDLTELPKCTV
16:74943434-74943434 A>T	1.0	1913	MELANOMA	-	-	-	-	WDR59	ENST00000566924,p.F24Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000566924	nonsynonymous SNV	exon1	c.T71A	p.F24Y	TAYGSYQDANIPFPRTSGARFCGAD	TAYGSYQDANIPYPRTSGARFCGAD	8.0	4.0	unscreened	-	1913_16:74943434-74943434 A>T_TAYGSYQDANIPYPRTSGARFCGAD
5:156964982-156964982 G>A	1.0	1913	MELANOMA	-	-	-	-	ADAM19	ENST00000257527,p.S90F|ENST00000394020,p.S92F|uc003lwz.4,p.S90F|ENST00000517905,p.S90F|uc011ddr.1,p.S21F|ENST00000517951,p.S90F|NM_033274,p.S90F	retained_intron, protein_coding, nonsense_mediated_decay	uc011ddr.1	nonsynonymous SNV	exon4	c.C62T	p.S21F	LDLEKNEQLFAPSYTETHYTSSGNP	LDLEKNEQLFAPFYTETHYTSSGNP	8.0	1.0	unscreened	-	1913_5:156964982-156964982 G>A_LDLEKNEQLFAPFYTETHYTSSGNP
14:60591306-60591306 C>T	1.0	1913	MELANOMA	-	-	-	-	PCNXL4	ENST00000555740,p.S242F|ENST00000317623,p.S572F|uc001xeq.2,p.S572F|ENST00000535349,p.S13F|uc001xer.4,p.S572F|ENST00000404681,p.S806F|ENST00000406949,p.S572F|ENST00000406854,p.S806F|NM_022495,p.S572F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xer.4	nonsynonymous SNV	exon8	c.C1715T	p.S572F	MLPALNTLPPPKSPEDIDSLNSETF	MLPALNTLPPPKFPEDIDSLNSETF	8.0	2.0	unscreened	-	1913_14:60591306-60591306 C>T_MLPALNTLPPPKFPEDIDSLNSETF
16:74943434-74943434 A>T	1.0	1913	MELANOMA	-	-	-	-	WDR59	uc002fdg.1,p.F128Y|uc002fdh.1,p.F536Y|uc002fdi.3,p.F536Y|ENST00000262144,p.F536Y|NM_030581,p.F536Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002fdi.3	nonsynonymous SNV	exon16	c.T1607A	p.F536Y	TAYGSYQDANIPFPRTSGARFCGAG	TAYGSYQDANIPYPRTSGARFCGAG	8.0	4.0	unscreened	-	1913_16:74943434-74943434 A>T_TAYGSYQDANIPYPRTSGARFCGAG
14:50088496-50088496 T>G	1.0	1913	MELANOMA	-	-	-	-	MGAT2	ENST00000305386,p.C170W|uc001wwr.3,p.C170W|NM_002408,p.C170W	protein_coding	uc001wwr.3	nonsynonymous SNV	exon1	c.T510G	p.C170W	TEINQLIAGVNFCPVLQVFFPFSIQ	TEINQLIAGVNFWPVLQVFFPFSIQ	8.0	3.0	unscreened	-	1913_14:50088496-50088496 T>G_TEINQLIAGVNFWPVLQVFFPFSIQ
7:13971334-13971334 G>A	1.0	1913	MELANOMA	-	-	-	1	ETV1	uc021zzz.1,p.P199S|NM_001163152,p.P96S|uc022aac.1,p.P181S|uc022aad.1,p.P181S|NM_001163147,p.P199S|uc022aaa.1,p.P181S|ENST00000420159,p.P141S|NM_001163150,p.P159S|uc021zzv.1,p.P141S|ENST00000438956,p.P141S|ENST00000443137,p.P199S|NM_001163151,p.P141S|NM_001163148,p.P181S|NM_001163149,p.P181S|ENST00000242066,p.P181S|uc022aab.1,p.P199S|ENST00000403527,p.P159S|uc021zzw.1,p.P159S|uc021zzu.1,p.P96S|ENST00000403685,p.P181S|uc021zzy.1,p.P141S|uc021zzx.1,p.P96S|ENST00000343495,p.P181S|NM_004956,p.P199S|ENST00000399357,p.P96S|uc021zzt.1,p.P159S|ENST00000405218,p.P199S|ENST00000405192,p.P199S|ENST00000430479,p.P199S|ENST00000443608,p.P96S|uc010ktv.3,p.P68S|uc003ssw.4,p.P199S|ENST00000405358,p.P213S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022aad.1	nonsynonymous SNV	exon8	c.C541T	p.P181S	RRQLSEPCNSFPPLPTMPREGRPMY	RRQLSEPCNSFPSLPTMPREGRPMY	10.0	3.0	unscreened	-	1913_7:13971334-13971334 G>A_RRQLSEPCNSFPSLPTMPREGRPMY
12:4768264-4768264 A>T	1.0	1913	MELANOMA	-	-	-	-	NDUFA9	uc001qnc.3,p.E158V|ENST00000266544,p.E158V|uc009zei.2,p.E158V|NM_005002,p.E158V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zei.2	nonsynonymous SNV	exon5	c.A473T	p.E158V	VKIPQAIAQLSKEAGVEKFIHVSHL	VKIPQAIAQLSKVAGVEKFIHVSHL	9.0	3.0	unscreened	-	1913_12:4768264-4768264 A>T_VKIPQAIAQLSKVAGVEKFIHVSHL
5:176942692-176942692 G>A	1.0	1913	MELANOMA	-	-	-	-	DDX41	uc003mhn.3,p.P58S|ENST00000330503,p.P207S|ENST00000507955,p.P189S|uc003mho.3,p.P189S|uc003mhp.3,p.P58S|NM_016222,p.P189S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003mhp.3	nonsynonymous SNV	exon5	c.C172T	p.P58S	PPPIKSFKEMKFPAAILRGLKKKGI	PPPIKSFKEMKFSAAILRGLKKKGI	10.0	3.0	unscreened	-	1913_5:176942692-176942692 G>A_PPPIKSFKEMKFSAAILRGLKKKGI
9:123912565-123912565 T>A	1.0	1913	MELANOMA	-	-	-	1	CNTRL	ENST00000373847,p.V704E|uc004bla.1,p.V704E|uc004bkx.1,p.V1256E|uc004bky.1,p.V860E|ENST00000373850,p.V704E|ENST00000238341,p.V1256E|NM_007018,p.V1256E|ENST00000373855,p.V1256E	protein_coding, processed_transcript	uc004bla.1	nonsynonymous SNV	exon14	c.T2111A	p.V704E	YMMYTVLPDGSPVPQGMALYAPPPP	YMMYTVLPDGSPEPQGMALYAPPPP	8.0	2.0	unscreened	-	1913_9:123912565-123912565 T>A_YMMYTVLPDGSPEPQGMALYAPPPP
10:126100704-126100704 C>G	1.0	1913	MELANOMA	-	-	-	-	OAT	ENST00000368845,p.V13L|uc001lhp.3,p.V13L|NM_000274,p.V13L	protein_coding, processed_transcript	uc001lhp.3	nonsynonymous SNV	exon2	c.G37C	p.V13L	MFSKLAHLQRFAVLSRGVHSSVASA	MFSKLAHLQRFALLSRGVHSSVASA	9.0	5.0	unscreened	-	1913_10:126100704-126100704 C>G_MFSKLAHLQRFALLSRGVHSSVASA
19:1432575-1432575 C>T	1.0	1913	MELANOMA	-	-	-	-	DAZAP1	ENST00000233078,p.P312S|uc002lsn.3,p.P312S|ENST00000336761,p.P312S|NM_018959,p.P312S|uc002lsm.3,p.P312S|NM_170711,p.P312S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lsn.3	nonsynonymous SNV	exon11	c.C934T	p.P312S	PPDQFAPPGVPPPPATPGAAPLAFP	PPDQFAPPGVPPSPATPGAAPLAFP	10.0	1.0	unscreened	-	1913_19:1432575-1432575 C>T_PPDQFAPPGVPPSPATPGAAPLAFP
15:75648739-75648739 G>A	1.0	1913	MELANOMA	-	-	-	-	MAN2C1	uc002baf.4,p.P930L|ENST00000565683,p.P947L|ENST00000267978,p.P930L|uc002bah.4,p.P947L|NM_001256496,p.P831L|NM_001256494,p.P947L|ENST00000563622,p.P831L|uc010bkk.4,p.P831L|NM_006715,p.P930L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bkk.4	nonsynonymous SNV	exon22	c.C2492T	p.P831L	AGVIQAAYSLNFPLLALPAPSPAPA	AGVIQAAYSLNFLLLALPAPSPAPA	10.0	4.0	unscreened	-	1913_15:75648739-75648739 G>A_AGVIQAAYSLNFLLLALPAPSPAPA
16:89713701-89713701 G>C	1.0	1913	MELANOMA	-	-	-	-	CHMP1A	ENST00000549328,p.D97E|ENST00000397901,p.D97E|ENST00000550102,p.D88E|uc002fnu.4,p.D97E|NM_002768,p.D97E|ENST00000535997,p.D33E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002fnu.4	nonsynonymous SNV	exon5	c.C291G	p.D97E	VTKNMAQVTKALDKALSTMDLQKVS	VTKNMAQVTKALEKALSTMDLQKVS	9.0	9.0	unscreened	-	1913_16:89713701-89713701 G>C_VTKNMAQVTKALEKALSTMDLQKVS
6:17987286-17987286 T>C	1.0	1913	MELANOMA	-	-	-	-	KIF13A	NM_001243423,p.R49G|uc003nck.3,p.R49G|ENST00000502704,p.R49G	retained_intron, protein_coding, processed_transcript	uc003nck.3	nonsynonymous SNV	exon2	c.A145G	p.R49G	LHPPPSNTKQGERLVTVAHISNSST	LHPPPSNTKQGEGLVTVAHISNSST	9.0	9.0	unscreened	-	1913_6:17987286-17987286 T>C_LHPPPSNTKQGEGLVTVAHISNSST
17:73259565-73259565 C>T	1.0	1913	MELANOMA	-	-	-	-	MRPS7	ENST00000245539,p.L162F|uc002jnm.4,p.L162F|NM_015971,p.L162F|ENST00000579002,p.L191F	retained_intron, protein_coding, nonsense_mediated_decay	uc002jnm.4	nonsynonymous SNV	exon4	c.C484T	p.L162F	KNCEPMIGLVPILKGGRFYQVPVPL	KNCEPMIGLVPIFKGGRFYQVPVPL	10.0	5.0	unscreened	-	1913_17:73259565-73259565 C>T_KNCEPMIGLVPIFKGGRFYQVPVPL
17:61417625-61417625 C>T	1.0	1913	MELANOMA	-	-	-	-	TANC2	uc010wpe.2,p.S416F|uc002jal.4,p.S506F|ENST00000424789,p.S506F|NM_025185,p.S506F|ENST00000389520,p.S506F	retained_intron, protein_coding	uc010wpe.2	nonsynonymous SNV	exon7	c.C1247T	p.S416F	REPHLQSMLSLRSCVQDPMASFRRG	REPHLQSMLSLRFCVQDPMASFRRG	8.0	5.0	unscreened	-	1913_17:61417625-61417625 C>T_REPHLQSMLSLRFCVQDPMASFRRG
6:151336756-151336756 C>T	1.0	1913	MELANOMA	-	-	-	-	MTHFD1L	ENST00000420192,p.S69L|NM_001242767,p.S839L|NM_015440,p.S838L|ENST00000367321,p.S838L|uc021zgt.1,p.S773L|NM_001242768,p.S773L|uc021zgs.1,p.S839L|uc003qob.3,p.S838L|uc003qoc.3,p.S786L	protein_coding, processed_transcript	uc021zgt.1	nonsynonymous SNV	exon24	c.C2318T	p.S773L	VPCYHWSVGGKGSVDLARAVREAAS	VPCYHWSVGGKGLVDLARAVREAAS	9.0	7.0	unscreened	-	1913_6:151336756-151336756 C>T_VPCYHWSVGGKGLVDLARAVREAAS
17:41852190-41852190 G>A	1.0	1913	MELANOMA	-	-	-	-	DUSP3	ENST00000397937,p.S40F|uc002iee.4,p.S81F|uc002ied.4,p.S81F|ENST00000226004,p.S81F|NM_004090,p.S81F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002iee.4	nonsynonymous SNV	exon2	c.C242T	p.S81F	MHVNTNANFYKDSGITYLGIKANDT	MHVNTNANFYKDFGITYLGIKANDT	8.0	9.0	unscreened	-	1913_17:41852190-41852190 G>A_MHVNTNANFYKDFGITYLGIKANDT
6:16274692-16274692 C>T	1.0	1913	MELANOMA	-	-	-	-	GMPR	NM_006877,p.S171F|uc003nbs.3,p.S171F|ENST00000259727,p.S171F	retained_intron, protein_coding, processed_transcript	uc003nbs.3	nonsynonymous SNV	exon5	c.C512T	p.S171F	VVTGEMVEELILSGADIIKVGVGPG	VVTGEMVEELILFGADIIKVGVGPG	5.0	8.0	unscreened	-	1913_6:16274692-16274692 C>T_VVTGEMVEELILFGADIIKVGVGPG
11:60689495-60689495 C>T	1.0	1913	MELANOMA	-	-	-	-	TMEM109	NM_024092,p.A197V|ENST00000227525,p.A197V|ENST00000536171,p.A197V|uc001nqg.3,p.A197V	protein_coding, processed_transcript	uc001nqg.3	nonsynonymous SNV	exon4	c.C590T	p.A197V	RALLLLALLILYALLSRLTGSRASG	RALLLLALLILYVLLSRLTGSRASG	10.0	7.0	unscreened	-	1913_11:60689495-60689495 C>T_RALLLLALLILYVLLSRLTGSRASG
7:19015531-19015531 C>T	1.0	1913	MELANOMA	-	-	-	-	HDAC9	uc003suj.3,p.S998F|NM_178425,p.S1042F|uc003suk.3,p.S287F|ENST00000441542,p.S1042F|uc003sue.3,p.S1039F|uc003sui.3,p.S1042F|NM_178423,p.S1039F|ENST00000401921,p.S998F|ENST00000406451,p.S1039F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003suk.3	nonsynonymous SNV	exon9	c.C860T	p.S287F	LQEETETVSALASLTVDVEQPFAQE	LQEETETVSALAFLTVDVEQPFAQE	6.0	2.0	unscreened	-	1913_7:19015531-19015531 C>T_LQEETETVSALAFLTVDVEQPFAQE
19:46057122-46057122 G>A	1.0	1913	MELANOMA	-	-	-	-	OPA3	uc002pck.4,p.R64W|ENST00000263275,p.R64W|NM_025136,p.R64W	protein_coding	uc002pck.4	nonsynonymous SNV	exon2	c.C190T	p.R64W	VEMRTKMRIMGFRGTVIKPLNEEAA	VEMRTKMRIMGFWGTVIKPLNEEAA	6.0	4.0	unscreened	-	1913_19:46057122-46057122 G>A_VEMRTKMRIMGFWGTVIKPLNEEAA
4:1388466-1388466 ->CA	1.0	1913	MELANOMA	-	-	-	-	CRIPAK	ENST00000324803,p.L56fs|NM_175918,p.L56fs|uc003gdf.2,p.L56fs	protein_coding	uc003gdf.2	frameshift insertion	exon1	c.167_168insCA	p.L56fs	ACSHMPMWSARLLTRAHVECPPAHT	ACSHMPMWSARLLTHVPMWSARLLTHVSMWSAHLLMCPCGVPTCSHVPMWSATCSHTCPCGVPACSRAHVECPPAHTCRCGVPACSHVPMRSARLLTRAHAECPPAHTCPCGVPACSHVPTWSARLLTRAHVECPPAHTCQRGVPA	6.0	1.0	unscreened	-	1913_4:1388466-1388466 ->CA_ACSHMPMWSARLLTHVPMWSARLLTHVSMWSAHLLMCPCGVPTCSHVPMWSATCSHTCPCGVPACSRAHVECPPAHTCRCGVPACSHVPMRSARLLTRAHAECPPAHTCPCGVPACSHVPTWSARLLTRAHVECPPAHTCQRGVPA
3:110830982-110830982 T>C	1.0	1913	MELANOMA	-	-	-	-	PVRL3	ENST00000319792,p.I89T|NM_001243288,p.I66T|uc003dxu.2,p.I66T|ENST00000481766,p.I74T|ENST00000461477,p.I42T|uc021xch.1,p.I89T|uc003dxt.2,p.I89T|ENST00000485303,p.I89T|ENST00000493615,p.I66T|NM_001243286,p.I89T|NM_015480,p.I89T	protein_coding, processed_transcript	uc021xch.1	nonsynonymous SNV	exon2	c.T266C	p.I89T	KCLIEVNETITQISWEKIHGKSSQT	KCLIEVNETITQTSWEKIHGKSSQT	6.0	9.0	unscreened	-	1913_3:110830982-110830982 T>C_KCLIEVNETITQTSWEKIHGKSSQT
16:18841068-18841068 G>A	1.0	1913	MELANOMA	-	-	ID=COSM3794634,COSM3794633;OCCURENCE=1(urinary_tract)	-	SMG1	NM_015092,p.S3048L|uc002dfm.3,p.S3048L|uc010bwa.3,p.S1779L|ENST00000389467,p.S3048L|uc010bwb.3,p.S2908L|ENST00000446231,p.S3048L|ENST00000565324,p.S2938L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bwb.3	nonsynonymous SNV	exon52	c.C8723T	p.S2908L	CGTFSKTLSGSSSLEDQNTVNGPVQ	CGTFSKTLSGSSLLEDQNTVNGPVQ	7.0	3.0	unscreened	-	1913_16:18841068-18841068 G>A_CGTFSKTLSGSSLLEDQNTVNGPVQ
16:89851321-89851321 C>T	1.0	1913	MELANOMA	-	-	-	1	FANCA	NM_000135,p.V471I|ENST00000389301,p.V471I|uc010vpn.1,p.V471I|ENST00000568369,p.V471I|uc002fou.1,p.V471I|NM_001286167,p.V471I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vpn.1	nonsynonymous SNV	exon15	c.G1411A	p.V471I	TRGYHGCSKKALVFLFTFLSELVPF	TRGYHGCSKKALIFLFTFLSELVPF	10.0	7.0	unscreened	-	1913_16:89851321-89851321 C>T_TRGYHGCSKKALIFLFTFLSELVPF
2:131129846-131129846 G>A	1.0	1913	MELANOMA	-	-	-	-	PTPN18	NM_014369,p.G344R|ENST00000175756,p.G344R|uc002trb.3,p.G237R|NM_001142370,p.G237R|uc002trc.3,p.G344R|ENST00000347849,p.G237R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002trc.3	nonsynonymous SNV	exon13	c.G1030A	p.G344R	PPGGVLRSISVPGSPGHAMADTYAV	PPGGVLRSISVPRSPGHAMADTYAV	9.0	3.0	unscreened	-	1913_2:131129846-131129846 G>A_PPGGVLRSISVPRSPGHAMADTYAV
3:53153940-53153940 G>A	1.0	1913	MELANOMA	-	-	-	-	RFT1	ENST00000394738,p.S180F|uc003dgj.3,p.S219F|NM_052859,p.S219F|ENST00000296292,p.S219F	retained_intron, protein_coding	uc003dgj.3	nonsynonymous SNV	exon6	c.C656T	p.S219F	SPESTKLQTLPVSRITDLLPNITRN	SPESTKLQTLPVFRITDLLPNITRN	9.0	2.0	unscreened	-	1913_3:53153940-53153940 G>A_SPESTKLQTLPVFRITDLLPNITRN
1:202915636-202915636 A>C	1.0	1913	MELANOMA	-	-	-	-	ADIPOR1	NM_001290629,p.F121V|ENST00000417068,p.F121V|NM_001290557,p.F121V|NM_015999,p.F121V|ENST00000340990,p.F121V|ENST00000436244,p.F121V|NM_001290553,p.F121V|uc001gys.5,p.F121V|ENST00000367254,p.F121V|ENST00000426229,p.F121V|uc001gyq.5,p.F121V|uc010pqd.3,p.F45V	retained_intron, protein_coding	uc010pqd.3	nonsynonymous SNV	exon2	c.T133G	p.F45V	YLLHGHRPPMPSFRACFKSIFRIHT	YLLHGHRPPMPSVRACFKSIFRIHT	10.0	7.0	unscreened	-	1913_1:202915636-202915636 A>C_YLLHGHRPPMPSVRACFKSIFRIHT
19:55716753-55716753 G>A	1.0	1913	MELANOMA	-	-	-	-	PTPRH	uc002qjq.3,p.S187F|NM_002842,p.S187F|uc002qjs.2,p.S194F|ENST00000376350,p.S187F	protein_coding, processed_transcript	uc002qjs.2	nonsynonymous SNV	exon4	c.C581T	p.S194F	VDGLEPGCLYAFSMWVGKNGINSSR	VDGLEPGCLYAFFMWVGKNGINSSR	6.0	4.0	unscreened	-	1913_19:55716753-55716753 G>A_VDGLEPGCLYAFFMWVGKNGINSSR
10:81058236-81058236 C>T	1.0	1913	MELANOMA	-	-	-	-	ZMIZ1	uc001kag.2,p.P398L|NM_020338,p.P522L|uc001kaf.2,p.P522L|ENST00000334512,p.P522L	protein_coding, processed_transcript	uc001kag.2	nonsynonymous SNV	exon9	c.C1193T	p.P398L	SPVPGNPTPPMTPGSSIPPYLSPSQ	SPVPGNPTPPMTLGSSIPPYLSPSQ	9.0	7.0	unscreened	-	1913_10:81058236-81058236 C>T_SPVPGNPTPPMTLGSSIPPYLSPSQ
2:99811227-99811227 C>T	1.0	1913	MELANOMA	-	-	-	-	MRPL30	uc002szr.3,p.S49L|ENST00000512183,p.S49L|ENST00000409145,p.S49L|ENST00000338148,p.S49L|uc002szu.3,p.S49L|uc002szv.3,p.S49L|NM_145212,p.S49L|ENST00000424491,p.S79L|ENST00000410042,p.S49L|ENST00000409841,p.S49L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002szv.3	nonsynonymous SNV	exon4	c.C146T	p.S49L	TRSRIPEKVFQASPEDHEKYGGDPQ	TRSRIPEKVFQALPEDHEKYGGDPQ	8.0	5.0	unscreened	-	1913_2:99811227-99811227 C>T_TRSRIPEKVFQALPEDHEKYGGDPQ
17:7490759-7490759 C>T	1.0	1913	MELANOMA	-	-	-	-	MPDU1	uc031qyo.1,p.P59L	retained_intron, protein_coding, nonsense_mediated_decay	uc031qyo.1	nonsynonymous SNV	exon2	c.C176T	p.P59L	PNLHFHSGNRRSPDGWDLCGLLSLQ	PNLHFHSGNRRSLDGWDLCGLLSLQ	9.0	9.0	unscreened	-	1913_17:7490759-7490759 C>T_PNLHFHSGNRRSLDGWDLCGLLSLQ
20:39978437-39978437 C>T	1.0	1913	MELANOMA	-	-	-	-	LPIN3	ENST00000373257,p.S221F|NM_022896,p.S221F|uc002xjx.3,p.S221F|uc010ggh.3,p.S222F|NM_001301860,p.S222F	protein_coding, processed_transcript	uc010ggh.3	nonsynonymous SNV	exon6	c.C665T	p.S222F	PPQASLSAGELTSPKSDSELEVRTP	PPQASLSAGELTFPKSDSELEVRTP	8.0	4.0	unscreened	-	1913_20:39978437-39978437 C>T_PPQASLSAGELTFPKSDSELEVRTP
3:196199516-196199516 G>A	1.0	1913	MELANOMA	-	-	-	-	RNF168	uc003fwq.3,p.P297L|NM_152617,p.P297L|uc010iah.3,p.P130L|ENST00000318037,p.P297L	protein_coding, nonsense_mediated_decay	uc010iah.3	nonsynonymous SNV	exon5	c.C389T	p.P130L	VGEQGADSSIESPMPWLCACGAEWY	VGEQGADSSIESLMPWLCACGAEWY	6.0	3.0	unscreened	-	1913_3:196199516-196199516 G>A_VGEQGADSSIESLMPWLCACGAEWY
6:56469788-56469788 G>A	0.0	1913	MELANOMA	-	-	-	-	RNU6-71P	ENST00000370754,p.P3180L|ENST00000361203,p.P3002L|ENST00000370769,p.P3002L|ENST00000312431,p.P3002L|ENST00000446842,p.P2676L|ENST00000439203,p.P2676L|uc021zax.1,p.P2676L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zax.1	nonsynonymous SNV	exon26	c.C8027T	p.P2676L	EDVPSHVLITAPPMKEHLQLGVNNT	EDVPSHVLITAPLMKEHLQLGVNNT	10.0	2.0	unscreened	-	1913_6:56469788-56469788 G>A_EDVPSHVLITAPLMKEHLQLGVNNT
7:116739873-116739873 C>T	1.0	1913	MELANOMA	-	-	-	-	ST7	ENST00000393444,p.S27F|ENST00000449366,p.S20F|ENST00000490039,p.S18F|NM_021908,p.S70F|ENST00000420755,p.S18F|ENST00000393451,p.S70F|ENST00000393449,p.S70F|uc003vin.3,p.S70F|uc003vio.3,p.S70F|ENST00000432298,p.S24F|ENST00000477742,p.S18F|ENST00000265437,p.S70F|ENST00000421345,p.S18F|uc011knl.2,p.S70F|uc011knm.2,p.S27F|uc003vir.3,p.S18F|ENST00000422922,p.S24F|ENST00000417919,p.S20F|ENST00000323984,p.S70F|ENST00000446490,p.S70F|uc003viq.3,p.S24F|ENST00000393446,p.S70F|NM_018412,p.S70F|ENST00000465133,p.S27F|ENST00000393443,p.S20F|ENST00000393447,p.S27F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011knm.2	nonsynonymous SNV	exon2	c.C80T	p.S27F	LTPKFYVALTGTSSLISGLILIFEW	LTPKFYVALTGTFSLISGLILIFEW	7.0	4.0	unscreened	-	1913_7:116739873-116739873 C>T_LTPKFYVALTGTFSLISGLILIFEW
7:100485684-100485684 C>T	1.0	1913	MELANOMA	-	-	-	-	SRRT	ENST00000445337,p.P60L|ENST00000448764,p.P413L|NM_001128852,p.P782L|uc003uwy.2,p.P783L|ENST00000388793,p.P782L|uc010lhl.1,p.P782L|NM_015908,p.P783L|ENST00000347433,p.P783L	retained_intron, protein_coding, nonsense_mediated_decay	uc010lhl.1	nonsynonymous SNV	exon18	c.C2345T	p.P782L	PGPAQILPPGLTPGLPYPHQTPQGL	PGPAQILPPGLTLGLPYPHQTPQGL	10.0	6.0	unscreened	-	1913_7:100485684-100485684 C>T_PGPAQILPPGLTLGLPYPHQTPQGL
22:50278215-50278215 C>T	1.0	1913	MELANOMA	-	-	-	-	ZBED4	ENST00000216268,p.S302F|uc021wrx.1,p.S302F|uc003bix.2,p.S302F|NM_014838,p.S302F	protein_coding	uc021wrx.1	nonsynonymous SNV	exon1	c.C905T	p.S302F	VWKHFYLSPLDNSKAVCIHCMNEFS	VWKHFYLSPLDNFKAVCIHCMNEFS	7.0	5.0	unscreened	-	1913_22:50278215-50278215 C>T_VWKHFYLSPLDNFKAVCIHCMNEFS
1:32206142-32206142 G>A	1.0	1913	MELANOMA	-	-	-	-	BAI2	ENST00000398542,p.L532F|ENST00000527361,p.L599F|uc010ogp.2,p.L532F|ENST00000398556,p.L547F|ENST00000398538,p.L587F|ENST00000398547,p.L532F|uc010ogq.2,p.L599F|ENST00000257070,p.L599F|uc001btq.1,p.L532F|uc010ogo.2,p.L241F|ENST00000373658,p.L599F|ENST00000373655,p.L599F|ENST00000440175,p.L241F|uc001bto.3,p.L599F|ENST00000420125,p.L537F|NM_001294335,p.L599F|uc001btn.3,p.L599F|NM_001294336,p.L599F	retained_intron, protein_coding, processed_transcript	uc010ogq.2	nonsynonymous SNV	exon10	c.C1795T	p.L599F	CISHEYRYLYLSLREHLAKGQRMLA	CISHEYRYLYLSFREHLAKGQRMLA	8.0	1.0	unscreened	-	1913_1:32206142-32206142 G>A_CISHEYRYLYLSFREHLAKGQRMLA
12:78513718-78513718 T>A	1.0	1913	MELANOMA	-	-	-	-	NAV3	NM_014903,p.F1248I|ENST00000228327,p.F1248I|NM_001024383,p.F1248I|ENST00000397909,p.F1248I|uc010sub.2,p.F748I|uc001syp.3,p.F1248I|ENST00000536525,p.F1248I|uc001syo.3,p.F1248I	retained_intron, protein_coding, processed_transcript	uc010sub.2	nonsynonymous SNV	exon7	c.T2242A	p.F748I	PGSKYPDIASPTFRRLFGAKAGGKS	PGSKYPDIASPTIRRLFGAKAGGKS	6.0	7.0	unscreened	-	1913_12:78513718-78513718 T>A_PGSKYPDIASPTIRRLFGAKAGGKS
7:90528614-90528614 T>A	1.0	1913	MELANOMA	-	-	-	-	CDK14	ENST00000406263,p.D170E|NM_012395,p.D198E|ENST00000380050,p.D216E|uc003ukz.1,p.D198E|uc010les.1,p.D170E|NM_001287136,p.D170E|ENST00000265741,p.D198E|NM_001287135,p.D216E|NM_001287137,p.D87E|uc011khl.1,p.D87E|ENST00000436577,p.D87E|uc003uky.2,p.D216E	protein_coding, processed_transcript, nonsense_mediated_decay	uc011khl.1	nonsynonymous SNV	exon5	c.T261A	p.D87E	ETLTLVFEYVHTDLCQYMDKHPGGL	ETLTLVFEYVHTELCQYMDKHPGGL	7.0	4.0	unscreened	-	1913_7:90528614-90528614 T>A_ETLTLVFEYVHTELCQYMDKHPGGL
7:111555930-111555930 C>T	1.0	1913	MELANOMA	-	-	-	-	DOCK4	ENST00000428084,p.G366R|uc003vfy.3,p.G366R|NM_014705,p.G366R|uc003vfx.3,p.G366R|ENST00000437633,p.G366R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vfy.3	nonsynonymous SNV	exon13	c.G1096A	p.G366R	NAGLAVSLQLLHGDIEQIRREYSSV	NAGLAVSLQLLHRDIEQIRREYSSV	8.0	7.0	unscreened	-	1913_7:111555930-111555930 C>T_NAGLAVSLQLLHRDIEQIRREYSSV
19:15547652-15547652 G>A	1.0	1913	MELANOMA	-	-	-	-	WIZ	ENST00000389282,p.T854I|ENST00000263381,p.T165I|NM_021241,p.T165I|uc002nbb.4,p.T165I	retained_intron, protein_coding, processed_transcript	uc002nbb.4	nonsynonymous SNV	exon3	c.C494T	p.T165I	RPRLPLTVPFPPTWAEDPGPAYGDA	RPRLPLTVPFPPIWAEDPGPAYGDA	9.0	1.0	unscreened	-	1913_19:15547652-15547652 G>A_RPRLPLTVPFPPIWAEDPGPAYGDA
20:20553569-20553569 G>A	1.0	1913	MELANOMA	-	-	-	-	RALGAPA2	ENST00000202677,p.H951Y|uc002wrz.3,p.H951Y|NM_020343,p.H951Y|uc002wry.3,p.H566Y|uc010zsg.2,p.H399Y	protein_coding, processed_transcript	uc010zsg.2	nonsynonymous SNV	exon19	c.C1195T	p.H399Y	LGDVNNIQSPKIHARVFCYLYELWY	LGDVNNIQSPKIYARVFCYLYELWY	6.0	7.0	unscreened	-	1913_20:20553569-20553569 G>A_LGDVNNIQSPKIYARVFCYLYELWY
20:35668613-35668613 G>A	1.0	1913	MELANOMA	-	-	-	-	RBL1	NM_183404,p.P616S|NM_002895,p.P616S|ENST00000344359,p.P616S|uc002xgi.3,p.P616S|uc002xgj.1,p.P616S|ENST00000373664,p.P616S	protein_coding, nonsense_mediated_decay	uc002xgj.1	nonsynonymous SNV	exon14	c.C1846T	p.P616S	NVQGHLPLMPMSPLMHPRVKEVRTD	NVQGHLPLMPMSSLMHPRVKEVRTD	7.0	4.0	unscreened	-	1913_20:35668613-35668613 G>A_NVQGHLPLMPMSSLMHPRVKEVRTD
8:118541040-118541040 C>T	1.0	1913	MELANOMA	-	-	-	-	MED30	uc003yoj.3,p.P110S|NM_080651,p.P110S|ENST00000297347,p.P110S	retained_intron, protein_coding	uc003yoj.3	nonsynonymous SNV	exon2	c.C328T	p.P110S	KCNENCGGMDPIPVEQLIPYVEEDG	KCNENCGGMDPISVEQLIPYVEEDG	8.0	4.0	unscreened	-	1913_8:118541040-118541040 C>T_KCNENCGGMDPISVEQLIPYVEEDG
6:43480053-43480053 C>T	1.0	1913	MELANOMA	-	-	-	-	YIPF3	ENST00000372422,p.G302E|uc011dvk.2,p.G267E|ENST00000506469,p.G308E|NM_015388,p.G302E|uc003ovl.2,p.G302E	retained_intron, protein_coding, nonsense_mediated_decay	uc011dvk.2	nonsynonymous SNV	exon9	c.G800A	p.G267E	LYLHFAYHKVVEGILDTLEGPNIPP	LYLHFAYHKVVEEILDTLEGPNIPP	10.0	8.0	unscreened	-	1913_6:43480053-43480053 C>T_LYLHFAYHKVVEEILDTLEGPNIPP
9:22451806-22451806 G>A	1.0	1913	MELANOMA	-	-	-	-	DMRTA1	NM_022160,p.D471N|ENST00000325870,p.D471N|uc003zpp.1,p.D471N	protein_coding	uc003zpp.1	nonsynonymous SNV	exon2	c.G1411A	p.D471N	GLVPTLPFRPALDYAFSGMIRDSSY	GLVPTLPFRPALNYAFSGMIRDSSY	5.0	9.0	unscreened	-	1913_9:22451806-22451806 G>A_GLVPTLPFRPALNYAFSGMIRDSSY
7:138554336-138554336 T>A	1.0	1913	MELANOMA	-	-	-	2	KIAA1549	ENST00000242365,p.I1525F|ENST00000422774,p.I1575F|uc011kqk.2,p.I359F|ENST00000440172,p.I1575F|uc011kqj.2,p.I1575F|NM_020910,p.I1575F|NM_001164665,p.I1575F|uc011kql.2,p.I1575F|uc011kqi.2,p.I359F	protein_coding	uc011kql.2	nonsynonymous SNV	exon14	c.A4723T	p.I1575F	RVYRRAQMQIDKILDPTASVPSVFI	RVYRRAQMQIDKFLDPTASVPSVFI	5.0	2.0	unscreened	-	1913_7:138554336-138554336 T>A_RVYRRAQMQIDKFLDPTASVPSVFI
12:123820977-123820977 T>A	1.0	1913	MELANOMA	-	-	-	-	SBNO1	uc009zxy.1,p.H203L|uc001uev.2,p.H236L|ENST00000267176,p.H237L|ENST00000602750,p.H237L|uc001uet.2,p.H238L|NM_001167856,p.H238L|uc010tap.2,p.H238L|NM_018183,p.H237L|ENST00000420886,p.H238L|uc010tao.2,p.H237L|uc001ueu.2,p.H237L|ENST00000602398,p.H238L	protein_coding	uc010tap.2	nonsynonymous SNV	exon5	c.A713T	p.H238L	DEPEEEDEEEMGHAETYAEYMPIKL	DEPEEEDEEEMGLAETYAEYMPIKL	7.0	7.0	unscreened	-	1913_12:123820977-123820977 T>A_DEPEEEDEEEMGLAETYAEYMPIKL
12:56142372-56142372 G>A	1.0	1913	MELANOMA	-	-	-	-	GDF11	uc001shq.3,p.D150N|NM_005811,p.D150N|ENST00000257868,p.D150N	protein_coding	uc001shq.3	nonsynonymous SNV	exon2	c.G448A	p.D150N	TTETVISMAQETDPAVQTDGSPLCC	TTETVISMAQETNPAVQTDGSPLCC	7.0	9.0	unscreened	-	1913_12:56142372-56142372 G>A_TTETVISMAQETNPAVQTDGSPLCC
14:103802448-103802448 C>T	1.0	1913	MELANOMA	-	-	-	-	EIF5	ENST00000216554,p.P50S|uc001ymu.3,p.P50S|NM_001969,p.P50S|uc001ymr.4,p.P50S|ENST00000560338,p.P50S|ENST00000392715,p.P50S|uc001ymq.4,p.P50S|ENST00000559532,p.P50S|ENST00000558316,p.P50S|ENST00000558265,p.P50S|ENST00000561325,p.P50S|ENST00000558506,p.P50S|NM_183004,p.P50S|ENST00000559130,p.P50S|uc001ymt.4,p.P50S	retained_intron, protein_coding, processed_transcript	uc001ymu.3	nonsynonymous SNV	exon2	c.C148T	p.P50S	NMVDVAKALNRPPTYPTKYFGCELG	NMVDVAKALNRPSTYPTKYFGCELG	10.0	3.0	unscreened	-	1913_14:103802448-103802448 C>T_NMVDVAKALNRPSTYPTKYFGCELG
2:157368781-157368781 T>C	1.0	1913	MELANOMA	-	-	-	-	GPD2	ENST00000409674,p.I150T|ENST00000409861,p.I150T|NM_000408,p.I150T|ENST00000540309,p.I150T|NM_001083112,p.I150T|uc002tzd.4,p.I150T|ENST00000310454,p.I150T|ENST00000438166,p.I150T|uc002tzf.4,p.I150T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tzf.4	nonsynonymous SNV	exon5	c.T449C	p.I150T	KEALHERANLLEIAPHLSAPLPIML	KEALHERANLLETAPHLSAPLPIML	9.0	4.0	unscreened	-	1913_2:157368781-157368781 T>C_KEALHERANLLETAPHLSAPLPIML
7:18684324-18684324 C>T	1.0	1913	MELANOMA	-	-	-	-	HDAC9	uc011jyb.2,p.H268Y|uc011jyc.2,p.H271Y|uc011jyf.2,p.H235Y|ENST00000417496,p.H310Y|ENST00000401921,p.H271Y|uc003sud.2,p.H312Y|NM_001204145,p.H268Y|NM_014707,p.H312Y|NM_058176,p.H312Y|uc011jye.2,p.H284Y|ENST00000524023,p.H235Y|NM_001204144,p.H310Y|uc003sue.3,p.H312Y|uc003suj.3,p.H271Y|uc003sua.1,p.H290Y|uc011jyd.2,p.H312Y|ENST00000406451,p.H312Y|ENST00000405010,p.H312Y|NM_001204146,p.H271Y|ENST00000441542,p.H315Y|uc003sui.3,p.H315Y|uc010kue.1,p.H55Y|ENST00000456174,p.H284Y|ENST00000406072,p.H299Y|uc003suh.3,p.H312Y|NM_001204148,p.H284Y|NM_178423,p.H312Y|uc003suf.2,p.H343Y|ENST00000428307,p.H268Y|uc011jya.2,p.H310Y|NM_178425,p.H315Y|ENST00000432645,p.H312Y|uc010kud.2,p.H315Y|NM_001204147,p.H235Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011jyf.2	nonsynonymous SNV	exon7	c.C703T	p.H235Y	AEQMVSQQRILIHEDSMNLLSLYTS	AEQMVSQQRILIYEDSMNLLSLYTS	6.0	4.0	unscreened	-	1913_7:18684324-18684324 C>T_AEQMVSQQRILIYEDSMNLLSLYTS
10:99019281-99019281 G>A	1.0	1913	MELANOMA	-	-	-	-	ARHGAP19	ENST00000479633,p.R240C|uc001kna.4,p.R231C|ENST00000316676,p.R240C|uc001knb.3,p.R240C|uc009xvj.3,p.R240C|NM_001256423,p.R231C|ENST00000453547,p.R240C|ENST00000466484,p.R167C|ENST00000355366,p.R231C|ENST00000358531,p.R240C|NM_032900,p.R240C|ENST00000371027,p.R231C|ENST00000358308,p.R240C|uc009xvk.3,p.R34C|NM_001204300,p.R240C	protein_coding, processed_transcript	uc009xvk.3	nonsynonymous SNV	exon2	c.C100T	p.R34C	LQLLFLILPPPNRNLLKLLLDLLYQ	LQLLFLILPPPNCNLLKLLLDLLYQ	8.0	7.0	unscreened	-	1913_10:99019281-99019281 G>A_LQLLFLILPPPNCNLLKLLLDLLYQ
7:138968254-138968254 C>T	1.0	1913	MELANOMA	-	-	-	-	UBN2	ENST00000288561,p.S785F|uc011kqr.2,p.S868F|NM_173569,p.S868F|ENST00000473989,p.S868F	protein_coding	uc011kqr.2	nonsynonymous SNV	exon15	c.C2603T	p.S868F	LIAGSSIQNPKVSLEPLPARLLQQG	LIAGSSIQNPKVFLEPLPARLLQQG	5.0	5.0	unscreened	-	1913_7:138968254-138968254 C>T_LIAGSSIQNPKVFLEPLPARLLQQG
12:54105738-54105738 G>A	1.0	1913	MELANOMA	-	-	-	-	CALCOCO1	uc001sef.3,p.T689I|NM_001143682,p.T604I|NM_020898,p.T689I|ENST00000262059,p.T688I|uc010son.2,p.T566I|uc009znd.3,p.T688I|uc001seg.3,p.T514I|ENST00000430117,p.T604I|uc001see.3,p.T214I|uc010som.2,p.T604I|ENST00000550804,p.T689I	retained_intron, protein_coding, processed_transcript	uc010son.2	nonsynonymous SNV	exon14	c.C1697T	p.T566I	DGHFFFSTQDPFTFE	DGHFFFSTQDPFIFE	9.0	7.0	unscreened	-	1913_12:54105738-54105738 G>A_DGHFFFSTQDPFIFE
3:173998357-173998357 C>T	1.0	1913	MELANOMA	-	-	-	-	NLGN1	uc003fio.1,p.S579F|uc021xhm.1,p.S619F|ENST00000545397,p.S579F|ENST00000361589,p.S579F|ENST00000457714,p.S579F|ENST00000401917,p.S619F|NM_014932,p.S579F|uc003fip.1,p.S579F	protein_coding, processed_transcript	uc021xhm.1	nonsynonymous SNV	exon7	c.C1856T	p.S619F	PNRFEEVAWTRYSQKDQLYLHIGLK	PNRFEEVAWTRYFQKDQLYLHIGLK	6.0	6.0	unscreened	-	1913_3:173998357-173998357 C>T_PNRFEEVAWTRYFQKDQLYLHIGLK
5:140476469-140476469 G>A	1.0	1913	MELANOMA	-	-	-	-	PCDHB2	NM_018936,p.V699M|ENST00000194155,p.V699M|uc003lil.3,p.V699M|uc003lim.1,p.V360M	protein_coding	uc003lim.1	nonsynonymous SNV	exon2	c.G1078A	p.V360M	LLTVYLVVALASVSSLFLFSVLLFV	LLTVYLVVALASMSSLFLFSVLLFV	6.0	7.0	unscreened	-	1913_5:140476469-140476469 G>A_LLTVYLVVALASMSSLFLFSVLLFV
10:7801888-7801888 C>T	1.0	1913	MELANOMA	-	-	-	-	KIN	NM_012311,p.E362K|uc001ijt.3,p.E362K|ENST00000379562,p.E362K	protein_coding, processed_transcript	uc001ijt.3	nonsynonymous SNV	exon12	c.G1084A	p.E362K	YRGNEGTLESINEKTFSATIVIETG	YRGNEGTLESINKKTFSATIVIETG	6.0	2.0	unscreened	-	1913_10:7801888-7801888 C>T_YRGNEGTLESINKKTFSATIVIETG
10:7801888-7801888 C>T	1.0	1913	MELANOMA	-	-	-	-	KIN	ENST00000543003,p.E256K|ENST00000535925,p.E362K|ENST00000498098,p.E96K|uc010qba.2,p.E256K	protein_coding, processed_transcript	uc010qba.2	nonsynonymous SNV	exon11	c.G766A	p.E256K	YRGNEGTLESINEKTFSATIVIETV	YRGNEGTLESINKKTFSATIVIETV	6.0	2.0	unscreened	-	1913_10:7801888-7801888 C>T_YRGNEGTLESINKKTFSATIVIETV
12:133727735-133727735 C>T	1.0	1913	MELANOMA	-	-	-	-	ZNF10	ENST00000536877,p.S52F|uc001ulq.3,p.S52F|NM_015394,p.S52F|ENST00000540096,p.S52F|ENST00000416488,p.S52F|uc009zzb.3,p.S52F|ENST00000402932,p.S52F|ENST00000426665,p.S52F|ENST00000248211,p.S52F	 nonsense_mediated_decay, protein_coding,protein_coding, processed_transcript,retained_intron	uc009zzb.3	nonsynonymous SNV	exon3	c.C155T	p.S52F	RNVMLENYKNLVSLGYQLTKPDVIL	RNVMLENYKNLVFLGYQLTKPDVIL	5.0	9.0	unscreened	-	1913_12:133727735-133727735 C>T_RNVMLENYKNLVFLGYQLTKPDVIL
14:51446031-51446031 G>A	1.0	1913	MELANOMA	-	-	-	-	TRIM9	ENST00000338969,p.S796F|uc001wyy.2,p.S796F	retained_intron, protein_coding, processed_transcript	uc001wyy.2	nonsynonymous SNV	exon12	c.C2387T	p.S796F	WLPVQRLPRAVQSNRREGS	WLPVQRLPRAVQFNRREGS	9.0	4.0	unscreened	-	1913_14:51446031-51446031 G>A_WLPVQRLPRAVQFNRREGS
7:111555929-111555929 C>A	1.0	1913	MELANOMA	-	-	-	-	DOCK4	uc003vfy.3,p.G366V|uc003vfx.3,p.G366V|ENST00000428084,p.G366V|NM_014705,p.G366V|ENST00000437633,p.G366V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vfy.3	nonsynonymous SNV	exon13	c.G1097T	p.G366V	NAGLAVSLQLLHGDIEQIRREYSSV	NAGLAVSLQLLHVDIEQIRREYSSV	8.0	7.0	unscreened	-	1913_7:111555929-111555929 C>A_NAGLAVSLQLLHVDIEQIRREYSSV
9:82323543-82323543 C>T	1.0	1913	MELANOMA	-	-	-	-	TLE4	NM_001282753,p.P300S|uc004alf.3,p.P308S|uc010mpr.3,p.P248S|ENST00000376552,p.P369S|NM_001282760,p.P248S|NM_001282748,p.P401S|uc004alc.3,p.P369S|ENST00000490347,p.P188S|ENST00000467142,p.P97S|NM_007005,p.P369S|uc004ald.3,p.P394S|NM_001282749,p.P344S|ENST00000265284,p.P344S|ENST00000376537,p.P401S|uc010mps.3,p.P293S|ENST00000376544,p.P300S|ENST00000376520,p.P401S|uc011lsq.2,p.P337S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lsq.2	nonsynonymous SNV	exon12	c.C1009T	p.P337S	ASSLRTPMAVPCPYPTPFGIVPHAG	ASSLRTPMAVPCSYPTPFGIVPHAG	5.0	6.0	unscreened	-	1913_9:82323543-82323543 C>T_ASSLRTPMAVPCSYPTPFGIVPHAG
5:16681985-16681985 A>G	1.0	1913	MELANOMA	-	-	-	-	MYO10	ENST00000427430,p.V752A|ENST00000515803,p.V734A|uc011cnc.2,p.V274A|uc011cnd.2,p.V752A|uc011cne.2,p.V752A|uc003jft.4,p.V1395A|NM_012334,p.V1395A|uc010itx.3,p.V1017A|ENST00000513610,p.V1395A|ENST00000505695,p.V734A|ENST00000274203,p.V752A|uc011cnb.2,p.V24A	retained_intron, protein_coding, processed_transcript	uc011cne.2	nonsynonymous SNV	exon13	c.T2255C	p.V752A	KGDTRVEGQEFIVRGWLHKEVKNSP	KGDTRVEGQEFIARGWLHKEVKNSP	10.0	2.0	unscreened	-	1913_5:16681985-16681985 A>G_KGDTRVEGQEFIARGWLHKEVKNSP
3:9743614-9743614 C>T	1.0	1913	MELANOMA	-	-	-	-	MTMR14	uc003bsa.3,p.A585V|uc003bsb.3,p.A525V|ENST00000353332,p.A585V|NM_001077526,p.A585V|NM_022485,p.A525V|ENST00000420925,p.A279V|uc003brz.3,p.A637V|NM_001077525,p.A637V|uc021wss.1,p.A208V|ENST00000351233,p.A525V|uc010hcl.3,p.A279V|ENST00000296003,p.A637V	retained_intron, protein_coding, nonsense_mediated_decay	uc021wss.1	nonsynonymous SNV	exon6	c.C623T	p.A208V	PSGAIGGLLEQFARGVGLRSISSNA	PSGAIGGLLEQFVRGVGLRSISSNA	7.0	8.0	unscreened	-	1913_3:9743614-9743614 C>T_PSGAIGGLLEQFVRGVGLRSISSNA
8:57079994-57079994 T>A	1.0	1913	MELANOMA	-	-	-	1	PLAG1	ENST00000423799,p.K22I|uc010lyi.3,p.K104I|uc003xsq.4,p.K104I|NM_001114635,p.K22I|NM_002655,p.K104I|NM_001114634,p.K104I|uc022aur.1,p.K22I|ENST00000316981,p.K104I|uc010lyj.3,p.K22I|ENST00000429357,p.K104I|uc003xsr.4,p.K104I	retained_intron, protein_coding, processed_transcript	uc022aur.1	nonsynonymous SNV	exon1	c.A65T	p.K22I	HKCNYCEKMFHRKDHLKNHLHTHDP	HKCNYCEKMFHRIDHLKNHLHTHDP	5.0	4.0	unscreened	-	1913_8:57079994-57079994 T>A_HKCNYCEKMFHRIDHLKNHLHTHDP
11:65826500-65826500 T>G	1.0	1913	MELANOMA	-	-	-	-	SF3B2	ENST00000528302,p.I372S|NM_006842,p.I389S|uc001ogy.1,p.I389S|ENST00000322535,p.I389S	retained_intron, protein_coding, processed_transcript	uc001ogy.1	nonsynonymous SNV	exon10	c.T1166G	p.I389S	EIYEPNFIFFKRIFEAFKLTDDVKK	EIYEPNFIFFKRSFEAFKLTDDVKK	10.0	8.0	unscreened	-	1913_11:65826500-65826500 T>G_EIYEPNFIFFKRSFEAFKLTDDVKK
1:151753961-151753961 T>G	1.0	1913	MELANOMA	-	-	-	-	TDRKH	uc001ezc.4,p.K76T|uc001eza.4,p.K76T|ENST00000458431,p.K76T|ENST00000368824,p.K76T|ENST00000368822,p.K76T|uc001ezd.4,p.K76T|ENST00000368827,p.K76T|ENST00000526378,p.K76T|ENST00000526413,p.K76T|ENST00000368825,p.K76T|ENST00000525790,p.K76T|NM_006862,p.K76T|NM_001083965,p.K76T|NM_001083963,p.K76T|uc009wnb.1,p.K76T|NM_001083964,p.K76T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009wnb.1	nonsynonymous SNV	exon3	c.A227C	p.K76T	VKLIIGRQGANIKQLRKQTGARIDV	VKLIIGRQGANITQLRKQTGARIDV	6.0	1.0	unscreened	-	1913_1:151753961-151753961 T>G_VKLIIGRQGANITQLRKQTGARIDV
5:176795887-176795887 C>T	0.0	1913	MELANOMA	-	-	-	-	RGS14	uc003mgi.3,p.P110L|uc003mgh.3,p.P340L	retained_intron, protein_coding, processed_transcript	uc003mgi.3	nonsynonymous SNV	exon2	c.C329T	p.P110L	LAGICEKRGLSLPDIKVYLVGNEQK	LAGICEKRGLSLLDIKVYLVGNEQK	6.0	8.0	unscreened	-	1913_5:176795887-176795887 C>T_LAGICEKRGLSLLDIKVYLVGNEQK
5:176795887-176795887 C>T	0.0	1913	MELANOMA	-	-	-	-	RGS14	uc003mgf.3,p.P340L|ENST00000408923,p.P340L|NM_006480,p.P340L	retained_intron, protein_coding, processed_transcript	uc003mgf.3	nonsynonymous SNV	exon9	c.C1019T	p.P340L	LAGICEKRGLSLPDIKVYLVGNEQA	LAGICEKRGLSLLDIKVYLVGNEQA	6.0	8.0	unscreened	-	1913_5:176795887-176795887 C>T_LAGICEKRGLSLLDIKVYLVGNEQA
1:213277870-213277870 C>T	1.0	1913	MELANOMA	-	-	-	-	RPS6KC1	uc010ptr.2,p.P113S|NM_001136138,p.P101S|uc001hkd.3,p.P101S|ENST00000366960,p.P113S|ENST00000366959,p.P101S|NM_012424,p.P113S	protein_coding, processed_transcript	uc010ptr.2	nonsynonymous SNV	exon4	c.C337T	p.P113S	CAEDLLQFSANIPALYNSKQLEDFF	CAEDLLQFSANISALYNSKQLEDFF	7.0	3.0	unscreened	-	1913_1:213277870-213277870 C>T_CAEDLLQFSANISALYNSKQLEDFF
9:94060308-94060308 C>T	1.0	1913	MELANOMA	-	-	-	-	AUH	ENST00000422391,p.G186S|ENST00000375731,p.G186S|NM_001698,p.G186S|ENST00000303617,p.G157S|uc011ltu.1,p.G186S|uc004arf.4,p.G186S|uc004arg.4,p.G157S	protein_coding, processed_transcript	uc011ltu.1	nonsynonymous SNV	exon5	c.G556A	p.G186S	PTIAAIDGLALGGGLELALACDIRV	PTIAAIDGLALGSGLELALACDIRV	6.0	2.0	unscreened	-	1913_9:94060308-94060308 C>T_PTIAAIDGLALGSGLELALACDIRV
4:87726510-87726510 A>T	1.0	1913	MELANOMA	-	-	-	1	PTPN13	NM_080685,p.N2250Y|NM_080684,p.N2054Y|ENST00000411767,p.N2245Y|uc003hqb.3,p.N2054Y|ENST00000427191,p.N2226Y|ENST00000316707,p.N2054Y|ENST00000511467,p.N2250Y|uc003hqa.3,p.N2226Y|uc003hpy.3,p.N2250Y|NM_006264,p.N2226Y|NM_080683,p.N2245Y|uc003hpz.3,p.N2245Y|ENST00000436978,p.N2250Y	retained_intron, protein_coding	uc003hqb.3	nonsynonymous SNV	exon41	c.A6160T	p.N2054Y	QTKENRRKNRYKNILPYDATRVPLG	QTKENRRKNRYKYILPYDATRVPLG	7.0	9.0	unscreened	-	1913_4:87726510-87726510 A>T_QTKENRRKNRYKYILPYDATRVPLG
6:106696051-106696051 G>A	1.0	1913	MELANOMA	-	-	-	-	ATG5	NM_001286107,p.R105C|uc031spi.1,p.R183C|uc003prf.3,p.R183C|NM_004849,p.R183C|ENST00000369076,p.R183C|uc003prg.3,p.R105C|NM_001286106,p.R183C|ENST00000369070,p.R105C|ENST00000343245,p.R183C	protein_coding, processed_transcript	uc031spi.1	nonsynonymous SNV	exon6	c.C547T	p.R183C	KLMEYPAEENGFRYIPFRIYQTTTE	KLMEYPAEENGFCYIPFRIYQTTTE	7.0	2.0	unscreened	-	1913_6:106696051-106696051 G>A_KLMEYPAEENGFCYIPFRIYQTTTE
2:220043733-220043733 T>A	1.0	1913	MELANOMA	-	-	-	-	FAM134A	NM_024293,p.F124Y|ENST00000430297,p.F124Y|uc002vjw.4,p.F124Y|ENST00000273048,p.F124Y	retained_intron, protein_coding, nonsense_mediated_decay	uc002vjw.4	nonsynonymous SNV	exon2	c.T371A	p.F124Y	LAYFLLDLWQPRFLPDVSASSPEEP	LAYFLLDLWQPRYLPDVSASSPEEP	10.0	6.0	unscreened	-	1913_2:220043733-220043733 T>A_LAYFLLDLWQPRYLPDVSASSPEEP
4:104103954-104103954 G>A	1.0	1913	MELANOMA	-	-	-	-	CENPE	ENST00000380026,p.P310S|NM_001286734,p.P310S|uc003hxb.1,p.P310S|ENST00000503705,p.P310S|uc003hxc.1,p.P310S|NM_001813,p.P310S|ENST00000265148,p.P310S	retained_intron, protein_coding, processed_transcript	uc003hxc.1	nonsynonymous SNV	exon11	c.C928T	p.P310S	GNAKTRIICTITPVSFDETLTALQF	GNAKTRIICTITSVSFDETLTALQF	6.0	9.0	unscreened	-	1913_4:104103954-104103954 G>A_GNAKTRIICTITSVSFDETLTALQF
12:56142372-56142372 G>A	1.0	1913	MELANOMA	-	-	-	-	GDF11	uc031qhy.1,p.D10N	protein_coding	uc031qhy.1	nonsynonymous SNV	exon1	c.G28A	p.D10N	MLCPSLLSADPAVQTDGSPLCC	MLCPSLLSANPAVQTDGSPLCC	7.0	9.0	unscreened	-	1913_12:56142372-56142372 G>A_MLCPSLLSANPAVQTDGSPLCC
22:31998594-31998594 C>T	1.0	1913	MELANOMA	-	-	-	-	SFI1	NM_001258327,p.A461V|uc003ald.2,p.A519V|uc003ale.4,p.A543V|uc003alg.4,p.A461V|ENST00000443326,p.A461V|ENST00000443011,p.A390V|ENST00000432498,p.A512V|ENST00000400288,p.A543V|NM_014775,p.A512V|NM_001258326,p.A461V|NM_001007467,p.A543V|uc011alq.3,p.A488V|uc011alp.3,p.A461V|ENST00000417682,p.A158V|ENST00000414585,p.A390V|uc003alf.4,p.A512V|ENST00000400289,p.A461V|NM_001258325,p.A488V|ENST00000540643,p.A488V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011alq.3	nonsynonymous SNV	exon15	c.C1463T	p.A488V	FQHRENRLAERMAILHAERQLLYRS	FQHRENRLAERMVILHAERQLLYRS	8.0	5.0	unscreened	-	1913_22:31998594-31998594 C>T_FQHRENRLAERMVILHAERQLLYRS
2:171248046-171248046 C>T	1.0	1913	MELANOMA	-	-	-	-	MYO3B	ENST00000408978,p.H532Y|ENST00000334231,p.H541Y|ENST00000317935,p.H532Y|uc002ufz.3,p.H532Y|uc002ufv.4,p.H532Y|ENST00000484338,p.H541Y|ENST00000409044,p.H532Y|NM_138995,p.H532Y|NM_001083615,p.H532Y|uc002ufy.3,p.H532Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ufz.3	nonsynonymous SNV	exon15	c.C1594T	p.H532Y	RVIKQAAREKNFHIFYYIYAGLHHQ	RVIKQAAREKNFYIFYYIYAGLHHQ	6.0	3.0	unscreened	-	1913_2:171248046-171248046 C>T_RVIKQAAREKNFYIFYYIYAGLHHQ
12:57596979-57596979 C>T	1.0	1913	MELANOMA	-	-	-	-	LRP1	ENST00000243077,p.S3576F|uc001snd.3,p.S3576F|ENST00000555124,p.S157F|NM_002332,p.S3576F	retained_intron, protein_coding, processed_transcript	uc001snd.3	nonsynonymous SNV	exon69	c.C10727T	p.S3576F	NSDEESCTPRPCSESEFSCANGRCI	NSDEESCTPRPCFESEFSCANGRCI	9.0	4.0	unscreened	-	1913_12:57596979-57596979 C>T_NSDEESCTPRPCFESEFSCANGRCI
9:21971178-21971179 CG>-	1.0	1913	MELANOMA	-	-	-	1	CDKN2A	ENST00000498124,p.A60fs|ENST00000446177,p.A60fs|NM_001195132,p.A60fs|uc003zpk.3,p.A60fs|uc010miu.3,p.A60fs|NM_000077,p.A60fs|ENST00000579122,p.A60fs|ENST00000304494,p.A60fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010miu.3	frameshift deletion	exon2	c.179_180del	p.A60fs	PIQVMMMGSARVAELLLLHGAEPNC	PIQVMMMGSARVGAAAAPRRGAQLRRPRHSHPTRARRCPGGLPGHAGGAAPGRGAAGRARCLGPSARGPG	10.0	9.0	unscreened	-	1913_9:21971178-21971179 CG>-_PIQVMMMGSARVGAAAAPRRGAQLRRPRHSHPTRARRCPGGLPGHAGGAAPGRGAAGRARCLGPSARGPG
5:176795887-176795887 C>T	0.0	1913	MELANOMA	-	-	-	-	RGS14	uc003mgg.1,p.P187L	retained_intron, protein_coding, processed_transcript	uc003mgg.1	nonsynonymous SNV	exon5	c.C560T	p.P187L	LAGICEKRGLSLPDIKVYLVGNEQV	LAGICEKRGLSLLDIKVYLVGNEQV	6.0	8.0	unscreened	-	1913_5:176795887-176795887 C>T_LAGICEKRGLSLLDIKVYLVGNEQV
14:50585109-50585109 G>A	1.0	1913	MELANOMA	0.0014	-	-	-	SOS2	ENST00000216373,p.P1318S|ENST00000543680,p.P1285S|uc001wxs.4,p.P1318S|uc010tql.2,p.P1285S|NM_006939,p.P1318S|uc010ans.3,p.P153S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tql.2	nonsynonymous SNV	exon22	c.C3853T	p.P1285S	PPKTYKRELSHPPLYRLPLLENAET	PPKTYKRELSHPSLYRLPLLENAET	7.0	5.0	unscreened	-	1913_14:50585109-50585109 G>A_PPKTYKRELSHPSLYRLPLLENAET
19:35232817-35232817 C>T	1.0	1913	MELANOMA	-	-	-	-	ZNF181	NM_001145665,p.H510Y|ENST00000492450,p.H511Y|NM_001029997,p.H511Y|uc002nvu.3,p.H511Y|ENST00000459757,p.H510Y|uc010xsc.1,p.H446Y|ENST00000392232,p.H555Y|uc010xsb.1,p.H510Y	retained_intron, protein_coding	uc010xsc.1	nonsynonymous SNV	exon3	c.C1336T	p.H446Y	SCSSNLTVHQRIHTGEKPYKCNECG	SCSSNLTVHQRIYTGEKPYKCNECG	6.0	8.0	unscreened	-	1913_19:35232817-35232817 C>T_SCSSNLTVHQRIYTGEKPYKCNECG
6:32084491-32084491 G>A	1.0	1913	MELANOMA	-	-	-	-	ATF6B	ENST00000375201,p.S593F|NM_001136153,p.S593F|ENST00000375203,p.S596F|uc003nzm.1,p.S169F|NM_004381,p.S596F|uc003nzn.3,p.S596F|uc003nzo.3,p.S593F	retained_intron, protein_coding, processed_transcript	uc003nzo.3	nonsynonymous SNV	exon16	c.C1778T	p.S593F	AIDRREDTFYVVSFRRDHLLLPAIS	AIDRREDTFYVVFFRRDHLLLPAIS	10.0	1.0	unscreened	-	1913_6:32084491-32084491 G>A_AIDRREDTFYVVFFRRDHLLLPAIS
2:110065834-110065834 C>A	1.0	1913	MELANOMA	-	-	-	-	SH3RF3	ENST00000309415,p.N679K|ENST00000418513,p.N679K|uc010ywt.1,p.N679K|NM_001099289,p.N679K	protein_coding	uc010ywt.1	nonsynonymous SNV	exon8	c.C2037A	p.N679K	PLTSAASAITPPNVSAANLNGEAGG	PLTSAASAITPPKVSAANLNGEAGG	6.0	7.0	unscreened	-	1913_2:110065834-110065834 C>A_PLTSAASAITPPKVSAANLNGEAGG
19:42474436-42474436 C>T	1.0	1913	MELANOMA	-	-	ID=COSM1681066;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	ATP1A3	ENST00000545399,p.E828K|NM_001256214,p.E828K|uc010xwg.2,p.E785K|uc010xwf.2,p.E826K|NM_152296,p.E815K|ENST00000302102,p.E815K|uc002osg.4,p.E815K|ENST00000602133,p.E785K|ENST00000543770,p.E826K|uc002osh.4,p.E815K|uc010xwh.3,p.E828K|NM_001256213,p.E826K|ENST00000441343,p.E815K	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc010xwh.3	nonsynonymous SNV	exon18	c.G2482A	p.E828K	GTDMVPAISLAYEAAESDIMKRQPR	GTDMVPAISLAYKAAESDIMKRQPR	6.0	5.0	unscreened	-	1913_19:42474436-42474436 C>T_GTDMVPAISLAYKAAESDIMKRQPR
11:68562312-68562312 ->GGATGGCAT	1.0	1913	MELANOMA	-	-	-	-	CPT1A	uc001oof.4,p.L280delinsHAIL|NM_001876,p.L280delinsHAIL|ENST00000376618,p.L280delinsHAIL|uc001oog.4,p.L280delinsHAIL|ENST00000540367,p.L280delinsHAIL|ENST00000538994,p.L32delinsHAIL|ENST00000265641,p.L280delinsHAIL|ENST00000539743,p.L280delinsHAIL|NM_001031847,p.L280delinsHAIL	protein_coding, processed_transcript, nonsense_mediated_decay	uc001oog.4	nonframeshift insertion	exon8	c.838_839insATGCCATCC	p.L280delinsHAIL	QAARAGNAIHAILLYRRKLDREEIK	QAARAGNAIHAIHAILLYRRKLDRE	7.0	1.0	unscreened	-	1913_11:68562312-68562312 ->GGATGGCAT_QAARAGNAIHAIHAILLYRRKLDRE
X:96185839-96185839 A>T	1.0	1913	MELANOMA	-	-	-	-	DIAPH2	ENST00000373049,p.L362F|uc004eft.4,p.L362F|ENST00000373054,p.L358F|uc004efu.4,p.L362F|NM_007309,p.L362F|ENST00000373061,p.L362F|ENST00000355827,p.L362F|ENST00000324765,p.L362F|NM_006729,p.L362F|uc004efs.2,p.L369F	protein_coding	uc004efu.4	nonsynonymous SNV	exon10	c.A1086T	p.L362F	RNEFLRSGLKTMLPDLKEKENDELD	RNEFLRSGLKTMFPDLKEKENDELD	5.0	9.0	unscreened	-	1913_X:96185839-96185839 A>T_RNEFLRSGLKTMFPDLKEKENDELD
3:170099126-170099126 C>T	1.0	1913	MELANOMA	-	-	-	-	SKIL	ENST00000259119,p.P398L|ENST00000413427,p.P398L|uc003fgv.3,p.P398L|uc003fgw.3,p.P398L|NM_001145098,p.P378L|uc011bps.2,p.P378L|NM_001248008,p.P398L|ENST00000426052,p.P378L|uc003fgu.3,p.P398L|NM_005414,p.P398L|ENST00000458537,p.P398L|NM_001145097,p.P398L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bps.2	nonsynonymous SNV	exon4	c.C1133T	p.P378L	GDHVSQTHSFLHPSYYLYMCDKVVA	GDHVSQTHSFLHLSYYLYMCDKVVA	5.0	3.0	unscreened	-	1913_3:170099126-170099126 C>T_GDHVSQTHSFLHLSYYLYMCDKVVA
2:242402840-242402840 C>T	1.0	1913	MELANOMA	-	-	-	-	FARP2	uc010zoq.2,p.H590Y|uc010zor.2,p.H590Y|NM_014808,p.H590Y|ENST00000264042,p.H590Y|NM_001282984,p.H590Y|ENST00000373287,p.H590Y|uc002wbi.2,p.H590Y|NM_001282983,p.H590Y|ENST00000545004,p.H590Y	retained_intron, protein_coding, processed_transcript	uc010zor.2	nonsynonymous SNV	exon16	c.C1768T	p.H590Y	LLFSNIDPIYEFHRGFLREVEQRLA	LLFSNIDPIYEFYRGFLREVEQRLA	9.0	9.0	unscreened	-	1913_2:242402840-242402840 C>T_LLFSNIDPIYEFYRGFLREVEQRLA
6:102376419-102376419 C>T	1.0	1913	MELANOMA	-	-	-	-	GRIK2	NM_175768,p.S666F|ENST00000421544,p.S666F|uc003pqo.4,p.S666F|NM_001166247,p.S666F|ENST00000369134,p.S617F|ENST00000318991,p.S666F|ENST00000413795,p.S666F|uc010kcw.3,p.S666F|ENST00000369137,p.S590F|NM_021956,p.S666F|ENST00000369138,p.S666F|uc003pqp.4,p.S666F	retained_intron, protein_coding	uc010kcw.3	nonsynonymous SNV	exon13	c.C1997T	p.S666F	NLAAFLTVERMESPIDSADDLAKQT	NLAAFLTVERMEFPIDSADDLAKQT	7.0	3.0	unscreened	-	1913_6:102376419-102376419 C>T_NLAAFLTVERMEFPIDSADDLAKQT
4:2175687-2175687 G>A	1.0	1913	MELANOMA	-	-	-	-	POLN	ENST00000511885,p.L457F|uc011bvi.1,p.L457F|uc003ger.2,p.L457F|NM_181808,p.L457F|uc010ich.1,p.L48F|ENST00000382865,p.L457F	retained_intron, protein_coding, processed_transcript	uc011bvi.1	nonsynonymous SNV	exon11	c.C1369T	p.L457F	VNKEEMEKTSALLGARLKELEQEAH	VNKEEMEKTSALFGARLKELEQEAH	5.0	9.0	unscreened	-	1913_4:2175687-2175687 G>A_VNKEEMEKTSALFGARLKELEQEAH
3:194373753-194373753 G>A	1.0	1913	MELANOMA	-	-	-	-	LSG1	NM_018385,p.S293L|ENST00000265245,p.S293L|uc003fui.3,p.S293L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003fui.3	nonsynonymous SNV	exon8	c.C878T	p.S293L	SESEHLPARDSPSLSENPTTDEDDS	SESEHLPARDSPLLSENPTTDEDDS	9.0	8.0	unscreened	-	1913_3:194373753-194373753 G>A_SESEHLPARDSPLLSENPTTDEDDS
5:140719698-140719698 C>T	1.0	1913	MELANOMA	-	-	-	-	PCDHGA2	uc011dao.2,p.P387L|uc003ljk.2,p.P387L|ENST00000394576,p.P387L|NM_032009,p.P387L|NM_018915,p.P387L	retained_intron, protein_coding	uc011dao.2	nonsynonymous SNV	exon1	c.C1160T	p.P387L	DSGQNAFTTCSLPEDLPFKLEKSVD	DSGQNAFTTCSLLEDLPFKLEKSVD	4.0	8.0	unscreened	-	1913_5:140719698-140719698 C>T_DSGQNAFTTCSLLEDLPFKLEKSVD
12:117160973-117160973 G>A	1.0	1913	MELANOMA	-	-	-	-	C12orf49	NM_024738,p.P56L|uc001tvz.1,p.P56L|ENST00000261318,p.P56L	protein_coding, nonsense_mediated_decay	uc001tvz.1	nonsynonymous SNV	exon2	c.C167T	p.P56L	DRNLLQVHDHNQPIPWKVQFNLGNS	DRNLLQVHDHNQLIPWKVQFNLGNS	8.0	9.0	unscreened	-	1913_12:117160973-117160973 G>A_DRNLLQVHDHNQLIPWKVQFNLGNS
14:24845590-24845590 C>T	1.0	1913	MELANOMA	-	-	-	-	NFATC4	uc010alt.3,p.S748L|ENST00000539237,p.S748L|ENST00000557451,p.S646L|uc010alv.3,p.S704L|uc010top.2,p.S748L|uc010tok.2,p.S779L|ENST00000553469,p.S748L|NM_001198967,p.S779L|uc010tou.2,p.S646L|uc001wpc.3,p.S716L|uc010tot.2,p.S704L|uc010toy.2,p.S251L|uc010alr.3,p.S779L|uc010tow.2,p.S646L|NM_004554,p.S716L|uc010tor.2,p.S716L|ENST00000555453,p.S704L|ENST00000250373,p.S716L|ENST00000556759,p.S251L|uc010tov.2,p.S704L|uc010toq.2,p.S748L|ENST00000553879,p.S646L|uc010toz.2,p.S251L|uc010too.2,p.S729L|ENST00000556279,p.S748L|ENST00000554344,p.S646L|ENST00000555167,p.S251L|ENST00000555590,p.S729L|ENST00000553708,p.S716L|ENST00000424781,p.S729L|uc010tol.2,p.S779L|ENST00000554050,p.S716L|NM_001198965,p.S716L|ENST00000554473,p.S251L|NM_001288802,p.S704L|ENST00000422617,p.S704L|uc001wpd.3,p.S251L|NM_001136022,p.S779L|ENST00000554966,p.S729L|NM_001198966,p.S646L|uc010tos.2,p.S646L|uc010ton.2,p.S729L|ENST00000554591,p.S779L|ENST00000413692,p.S779L|uc010tom.2,p.S729L|ENST00000554661,p.S646L|ENST00000556169,p.S704L|uc010tox.2,p.S646L	retained_intron, protein_coding, processed_transcript	uc010toz.2	nonsynonymous SNV	exon6	c.C752T	p.S251L	ASATPFGTDMDFSPPRPPYPSYPHE	ASATPFGTDMDFLPPRPPYPSYPHE	9.0	3.0	unscreened	-	1913_14:24845590-24845590 C>T_ASATPFGTDMDFLPPRPPYPSYPHE
2:171262103-171262103 G>A	1.0	1913	MELANOMA	-	-	-	-	MYO3B	ENST00000408978,p.G827E|ENST00000317935,p.G827E|uc002ufz.3,p.G827E|ENST00000334231,p.G836E|uc002ufy.3,p.G827E|NM_001083615,p.G827E|uc002ufv.4,p.G827E|ENST00000409044,p.G827E|NM_138995,p.G827E|ENST00000484338,p.G836E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ufz.3	nonsynonymous SNV	exon21	c.G2480A	p.G827E	DNLRCKYFWRPKGVELCFGIQHYAG	DNLRCKYFWRPKEVELCFGIQHYAG	6.0	4.0	unscreened	-	1913_2:171262103-171262103 G>A_DNLRCKYFWRPKEVELCFGIQHYAG
2:191301498-191301498 C>T	1.0	1913	MELANOMA	0.0009	-	-	-	MFSD6	ENST00000281416,p.T248I|ENST00000392328,p.T248I|NM_017694,p.T248I|uc002urz.2,p.T248I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002urz.2	nonsynonymous SNV	exon3	c.C743T	p.T248I	RMMDLTLNSSTATPVSPGSVTKETT	RMMDLTLNSSTAIPVSPGSVTKETT	6.0	1.0	unscreened	-	1913_2:191301498-191301498 C>T_RMMDLTLNSSTAIPVSPGSVTKETT
5:124036836-124036836 C>T	1.0	1913	MELANOMA	-	-	-	-	ZNF608	uc003ktt.1,p.V345I|uc003kts.1,p.V345I|NM_020747,p.V345I|ENST00000509799,p.V345I|ENST00000306315,p.V345I|ENST00000505686,p.V345I|ENST00000513986,p.V345I|uc003ktq.1,p.V345I	protein_coding, processed_transcript, nonsense_mediated_decay	uc003ktt.1	nonsynonymous SNV	exon3	c.G1033A	p.V345I	SSNIAAPVEQLLVRTRSVGVNTCEV	SSNIAAPVEQLLIRTRSVGVNTCEV	6.0	3.0	unscreened	-	1913_5:124036836-124036836 C>T_SSNIAAPVEQLLIRTRSVGVNTCEV
2:74883729-74883729 C>T	1.0	1913	MELANOMA	-	-	-	-	SEMA4F	ENST00000446927,p.P72S|uc010ffq.2,p.P72S|ENST00000434486,p.P72S|ENST00000339773,p.P72S|ENST00000420077,p.P72S|NM_001271662,p.P72S|uc002sna.2,p.P72S|NM_004263,p.P72S|uc021vjn.2,p.P72S|uc010ysb.2,p.P72S|ENST00000453930,p.P72S|uc002snc.2,p.P72S|ENST00000357877,p.P72S|NM_001271661,p.P72S	protein_coding, processed_transcript, nonsense_mediated_decay	uc021vjn.2	nonsynonymous SNV	exon2	c.C214T	p.P72S	PHTYNYSVLLVDPASHTLYVGARDT	PHTYNYSVLLVDSASHTLYVGARDT	7.0	5.0	unscreened	-	1913_2:74883729-74883729 C>T_PHTYNYSVLLVDSASHTLYVGARDT
1:32205006-32205006 G>A	1.0	1913	MELANOMA	-	-	-	-	BAI2	ENST00000440175,p.H442Y|NM_001294335,p.H800Y|ENST00000373658,p.H800Y|NM_001294336,p.H800Y|uc010ogo.2,p.H442Y|uc001bto.3,p.H800Y|ENST00000527361,p.H800Y|ENST00000398556,p.H748Y|ENST00000398547,p.H733Y|uc001btq.1,p.H733Y|uc010ogp.2,p.H733Y|uc001btn.3,p.H800Y|ENST00000398538,p.H788Y|ENST00000373655,p.H800Y|ENST00000257070,p.H800Y|ENST00000420125,p.H738Y|uc010ogq.2,p.H800Y|ENST00000398542,p.H733Y	retained_intron, protein_coding, processed_transcript	uc010ogq.2	nonsynonymous SNV	exon13	c.C2398T	p.H800Y	GPGTVPPGPGHSHQRLLPADPDESS	GPGTVPPGPGHSYQRLLPADPDESS	8.0	2.0	unscreened	-	1913_1:32205006-32205006 G>A_GPGTVPPGPGHSYQRLLPADPDESS
X:70602907-70602907 C>T	1.0	1913	MELANOMA	-	-	-	-	TAF1	uc004dzt.4,p.R634W|ENST00000449580,p.R613W|NM_001286074,p.R634W|ENST00000276072,p.R634W|NM_004606,p.R634W|ENST00000373790,p.R613W|uc004dzu.4,p.R613W|ENST00000423759,p.R634W|NM_138923,p.R613W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004dzu.4	nonsynonymous SNV	exon12	c.C1837T	p.R613W	PFFPTHMGPIKLRQFHRPPLKKYSF	PFFPTHMGPIKLWQFHRPPLKKYSF	7.0	9.0	unscreened	-	1913_X:70602907-70602907 C>T_PFFPTHMGPIKLWQFHRPPLKKYSF
6:32784647-32784647 C>T	1.0	1913	MELANOMA	-	-	-	-	HLA-DOB	ENST00000452392,p.R672K|uc011dqf.1,p.R672K	retained_intron, protein_coding, nonsense_mediated_decay	uc011dqf.1	nonsynonymous SNV	exon12	c.G2015A	p.R672K	SDPTGFLHDSRHRLSSDVGMFVALT	SDPTGFLHDSRHKLSSDVGMFVALT	5.0	1.0	unscreened	-	1913_6:32784647-32784647 C>T_SDPTGFLHDSRHKLSSDVGMFVALT
21:33039677-33039677 C>T	1.0	1913	MELANOMA	-	-	-	-	SOD1	NM_000454,p.R116C|uc002ypa.3,p.R116C|ENST00000389995,p.R97C|ENST00000270142,p.R116C	protein_coding, processed_transcript	uc002ypa.3	nonsynonymous SNV	exon4	c.C346T	p.R116C	VISLSGDHCIIGRTLVVHEKADDLG	VISLSGDHCIIGCTLVVHEKADDLG	10.0	3.0	unscreened	-	1913_21:33039677-33039677 C>T_VISLSGDHCIIGCTLVVHEKADDLG
7:64864505-64864505 C>T	1.0	1913	MELANOMA	-	-	-	-	ZNF92	uc003tub.3,p.S417F|uc003ttz.3,p.S493F|ENST00000450302,p.S424F|NM_001287533,p.S417F|uc031sxq.1,p.S46F|uc010kzu.3,p.S461F|uc003tua.3,p.S424F|NM_007139,p.S424F|ENST00000431504,p.S417F|NM_001287532,p.S461F|ENST00000357512,p.S461F|ENST00000328747,p.S493F|NM_001287534,p.S417F|NM_152626,p.S493F	retained_intron, protein_coding	uc031sxq.1	nonsynonymous SNV	exon1	c.C137T	p.S46F	YKCEECGKAFNQSSIFTKHKIIHTE	YKCEECGKAFNQFSIFTKHKIIHTE	6.0	3.0	unscreened	-	1913_7:64864505-64864505 C>T_YKCEECGKAFNQFSIFTKHKIIHTE
12:49418729-49418729 G>A	1.0	1913	MELANOMA	-	-	-	1	KMT2D	ENST00000301067,p.A5262V|uc001rta.4,p.A5262V|NM_003482,p.A5262V	retained_intron, protein_coding, processed_transcript	uc001rta.4	nonsynonymous SNV	exon49	c.C15785T	p.A5262V	LEDLVFTDASPQAVWNRIIEPVAAM	LEDLVFTDASPQVVWNRIIEPVAAM	8.0	9.0	unscreened	-	1913_12:49418729-49418729 G>A_LEDLVFTDASPQVVWNRIIEPVAAM
9:136582535-136582535 C>T	1.0	1913	MELANOMA	-	-	-	-	SARDH	ENST00000427237,p.E355K|ENST00000439388,p.E355K|NM_007101,p.E355K|uc004cep.4,p.E355K|uc004ceo.3,p.E355K|uc011mdn.2,p.E355K|NM_001134707,p.E355K|ENST00000422262,p.E187K|ENST00000371872,p.E355K|uc011mdo.2,p.E187K	protein_coding, processed_transcript	uc011mdo.2	nonsynonymous SNV	exon7	c.G559A	p.E187K	DKFAFGLFDLDWEVFTQHIEGAINR	DKFAFGLFDLDWKVFTQHIEGAINR	5.0	7.0	unscreened	-	1913_9:136582535-136582535 C>T_DKFAFGLFDLDWKVFTQHIEGAINR
3:132179943-132179943 C>T	1.0	1913	MELANOMA	-	-	-	-	DNAJC13	ENST00000260818,p.T536I|uc003eor.3,p.T536I|uc010htq.2,p.T536I|NM_015268,p.T536I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010htq.2	nonsynonymous SNV	exon15	c.C1607T	p.T536I	GALVISSLLDFLTFALCAPYSETTE	GALVISSLLDFLIFALCAPYSETTE	7.0	8.0	unscreened	-	1913_3:132179943-132179943 C>T_GALVISSLLDFLIFALCAPYSETTE
6:82941460-82941460 G>A	1.0	1913	MELANOMA	-	-	-	-	IBTK	uc011dyw.1,p.S173F|uc011dyv.1,p.S173F|ENST00000503400,p.S173F|NM_015525,p.S173F|NM_001300906,p.S173F|ENST00000306270,p.S173F|ENST00000503631,p.S173F|ENST00000510291,p.S173F|uc003pjl.1,p.S173F|uc003pjm.2,p.S173F	retained_intron, protein_coding, nonsense_mediated_decay	uc011dyw.1	nonsynonymous SNV	exon3	c.C518T	p.S173F	NSKHHPELVDLFSRSGIYIKQVVLC	NSKHHPELVDLFFRSGIYIKQVVLC	8.0	3.0	unscreened	-	1913_6:82941460-82941460 G>A_NSKHHPELVDLFFRSGIYIKQVVLC
2:130897464-130897464 C>T	1.0	1913	MELANOMA	-	-	-	-	CCDC74B	NM_207310,p.C336Y|ENST00000392984,p.C438Y|NM_001258307,p.C270Y|uc002tqn.2,p.C270Y|ENST00000409943,p.C270Y|uc002tqm.2,p.C336Y|uc010yzw.2,p.C438Y|ENST00000310463,p.C336Y	retained_intron, protein_coding, nonsense_mediated_decay	uc010yzw.2	nonsynonymous SNV	exon6	c.G1313A	p.C438Y	FPKVSTKSLSKKCLLLSPPVAERAI	FPKVSTKSLSKKYLLLSPPVAERAI	7.0	9.0	unscreened	-	1913_2:130897464-130897464 C>T_FPKVSTKSLSKKYLLLSPPVAERAI
3:52238795-52238795 G>T	1.0	1913	MELANOMA	-	-	-	-	ALAS1	ENST00000484952,p.V222L|ENST00000310271,p.V222L|ENST00000469224,p.V222L|NM_199166,p.V222L|uc011bec.2,p.V239L|uc003dcy.2,p.V222L|ENST00000394965,p.V222L|NM_000688,p.V222L|uc003dcz.2,p.V222L	protein_coding	uc011bec.2	nonsynonymous SNV	exon6	c.G715T	p.V239L	KKNDHTYRVFKTVNRRAHIFPMADD	KKNDHTYRVFKTLNRRAHIFPMADD	8.0	2.0	unscreened	-	1913_3:52238795-52238795 G>T_KKNDHTYRVFKTLNRRAHIFPMADD
2:133403778-133403778 G>A	1.0	1913	MELANOMA	-	-	-	-	LYPD1	uc002ttm.4,p.S105F|uc002tto.3,p.S37F|ENST00000345008,p.S37F|NM_001077427,p.S37F|ENST00000397463,p.S89F|NM_144586,p.S89F|uc002ttn.3,p.S89F	protein_coding, nonsense_mediated_decay	uc002tto.3	nonsynonymous SNV	exon3	c.C110T	p.S37F	CLIASAGYQSFCSPGKLNSVCISCC	CLIASAGYQSFCFPGKLNSVCISCC	7.0	5.0	unscreened	-	1913_2:133403778-133403778 G>A_CLIASAGYQSFCFPGKLNSVCISCC
3:39433028-39433028 G>A	1.0	1913	MELANOMA	-	-	-	-	SLC25A38	NM_017875,p.E125K|uc003cjo.2,p.E125K|ENST00000431510,p.E121K|ENST00000273158,p.E125K	protein_coding	uc003cjo.2	nonsynonymous SNV	exon4	c.G373A	p.E125K	QYFLRGHPPTALESVMLGVGSRSVA	QYFLRGHPPTALKSVMLGVGSRSVA	9.0	9.0	unscreened	-	1913_3:39433028-39433028 G>A_QYFLRGHPPTALKSVMLGVGSRSVA
1:184853833-184853833 G>A	1.0	1913	MELANOMA	-	-	-	-	FAM129A	NM_052966,p.H179Y|uc001gra.4,p.H179Y|ENST00000367511,p.H179Y	protein_coding, processed_transcript	uc001gra.4	nonsynonymous SNV	exon5	c.C535T	p.H179Y	WQPFFRHGYFCFHEAADQKRFSALL	WQPFFRHGYFCFYEAADQKRFSALL	6.0	2.0	unscreened	-	1913_1:184853833-184853833 G>A_WQPFFRHGYFCFYEAADQKRFSALL
2:241420476-241420476 G>A	1.0	1913	MELANOMA	-	-	-	-	ANKMY1	ENST00000391987,p.S886F|NM_017844,p.S662F|uc002vzc.1,p.S665F|ENST00000373318,p.S665F|ENST00000373320,p.S656F|NM_001282781,p.S647F|uc002vzd.1,p.S709F|NM_001282780,p.S665F|NM_001282771,p.S975F|ENST00000403283,p.S788F|uc002vzb.1,p.S647F|NM_016552,p.S886F|ENST00000401804,p.S975F|ENST00000361678,p.S662F|uc002vza.1,p.S662F|uc010fzd.1,p.S975F|ENST00000406958,p.S647F|ENST00000272972,p.S886F|uc002vyz.1,p.S886F	retained_intron, protein_coding, processed_transcript	uc010fzd.1	nonsynonymous SNV	exon17	c.C2924T	p.S975F	IPFFKFCYQCGRSIGVRLLPCPRCY	IPFFKFCYQCGRFIGVRLLPCPRCY	7.0	5.0	unscreened	-	1913_2:241420476-241420476 G>A_IPFFKFCYQCGRFIGVRLLPCPRCY
9:127685448-127685448 G>A	1.0	1913	MELANOMA	-	-	-	-	GOLGA1	uc010mwt.1,p.L138F|NM_002077,p.L163F|ENST00000373555,p.L163F|uc004bpc.3,p.L163F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010mwt.1	nonsynonymous SNV	exon5	c.C412T	p.L138F	AQLQEMKNQSMNLFQRRDEMDELEG	AQLQEMKNQSMNFFQRRDEMDELEG	7.0	8.0	unscreened	-	1913_9:127685448-127685448 G>A_AQLQEMKNQSMNFFQRRDEMDELEG
6:1961041-1961041 C>T	1.0	1913	MELANOMA	-	-	-	-	GMDS	NM_001500,p.E169K|uc021ykn.1,p.E139K|NM_001253846,p.E139K|uc003mtq.3,p.E169K|ENST00000380815,p.E169K|ENST00000530927,p.E139K	retained_intron, protein_coding, processed_transcript	uc021ykn.1	nonsynonymous SNV	exon5	c.G415A	p.E139K	ELYGKVQEIPQKETTPFYPRSPYGA	ELYGKVQEIPQKKTTPFYPRSPYGA	8.0	6.0	unscreened	-	1913_6:1961041-1961041 C>T_ELYGKVQEIPQKKTTPFYPRSPYGA
22:39122088-39122088 C>T	1.0	1913	MELANOMA	-	-	-	-	GTPBP1	ENST00000216044,p.S384F|uc003awg.3,p.S384F|NM_004286,p.S384F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003awg.3	nonsynonymous SNV	exon7	c.C1151T	p.S384F	NLDLLKMFLNLLSPRTSYREEEPAE	NLDLLKMFLNLLFPRTSYREEEPAE	8.0	6.0	unscreened	-	1913_22:39122088-39122088 C>T_NLDLLKMFLNLLFPRTSYREEEPAE
19:10250743-10250743 G>A	1.0	1913	MELANOMA	-	-	-	-	DNMT1	ENST00000540357,p.S1246F|uc002mng.3,p.S1246F|uc002mnf.3,p.S170F|uc002mnh.3,p.S1141F|ENST00000359526,p.S1262F|uc010xld.2,p.S1246F|NM_001130823,p.S1262F|NM_001379,p.S1246F|uc010xlc.2,p.S1262F|ENST00000340748,p.S1246F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xld.2	nonsynonymous SNV	exon32	c.C3737T	p.S1246F	RFNSRTYSKFKNSLVVSFLSYCDYY	RFNSRTYSKFKNFLVVSFLSYCDYY	10.0	8.0	unscreened	-	1913_19:10250743-10250743 G>A_RFNSRTYSKFKNFLVVSFLSYCDYY
8:145666202-145666202 G>A	1.0	1913	MELANOMA	-	-	ID=COSM749597,COSM749598;OCCURENCE=1(lung)	-	TONSL	ENST00000409379,p.H355Y|uc011llg.2,p.H355Y|NM_013432,p.H355Y	retained_intron, protein_coding	uc011llg.2	nonsynonymous SNV	exon9	c.C1063T	p.H355Y	LLDRPGAERAIIHVSLATTLGDMKD	LLDRPGAERAIIYVSLATTLGDMKD	8.0	8.0	unscreened	-	1913_8:145666202-145666202 G>A_LLDRPGAERAIIYVSLATTLGDMKD
14:75230650-75230650 C>T	1.0	1913	MELANOMA	-	-	-	-	YLPM1	ENST00000552421,p.P153L|uc001xqj.4,p.P153L|NM_019589,p.P153L|ENST00000325680,p.P153L|ENST00000238571,p.P153L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xqj.4	nonsynonymous SNV	exon1	c.C458T	p.P153L	MELESPPESPPVPPGSYMPPSQSYM	MELESPPESPPVLPGSYMPPSQSYM	8.0	3.0	unscreened	-	1913_14:75230650-75230650 C>T_MELESPPESPPVLPGSYMPPSQSYM
18:8633254-8633254 A>T	1.0	1913	MELANOMA	-	-	-	-	RAB12	ENST00000329286,p.I119L|NM_001025300,p.I119L|uc002knp.3,p.I119L	retained_intron, protein_coding	uc002knp.3	nonsynonymous SNV	exon3	c.A355T	p.I119L	ITSAYYRSAKGIILVYDITKKETFD	ITSAYYRSAKGILLVYDITKKETFD	9.0	3.0	unscreened	-	1913_18:8633254-8633254 A>T_ITSAYYRSAKGILLVYDITKKETFD
16:89753195-89753195 C>T	1.0	1913	MELANOMA	-	-	-	-	CDK10	ENST00000502547,p.P26L|ENST00000512912,p.P26L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000512912	nonsynonymous SNV	exon1	c.C77T	p.P26L	KCIRKEGFFTVPPEHRGLALSPRLE	KCIRKEGFFTVPLEHRGLALSPRLE	9.0	4.0	unscreened	-	1913_16:89753195-89753195 C>T_KCIRKEGFFTVPLEHRGLALSPRLE
19:37441557-37441557 C>T	1.0	1913	MELANOMA	-	-	-	-	ZNF568	uc010efe.3,p.P437L|ENST00000587857,p.P437L|NM_198539,p.P501L|NM_001204837,p.P437L|NM_001204836,p.P437L|uc021uts.1,p.P500L|ENST00000415168,p.P437L|ENST00000333987,p.P501L|uc002ofd.3,p.P437L|uc002ofc.3,p.P501L|NM_001204835,p.P500L	retained_intron, protein_coding	uc021uts.1	nonsynonymous SNV	exon7	c.C1499T	p.P500L	LIRHQRIHTGEKPYACTVCGKAFSQ	LIRHQRIHTGEKLYACTVCGKAFSQ	5.0	5.0	unscreened	-	1913_19:37441557-37441557 C>T_LIRHQRIHTGEKLYACTVCGKAFSQ
14:74766868-74766882 ACAAAAGGGTCAGGA>-	0.0	1913	MELANOMA	-	-	-	-	ABCD4	ENST00000557588,p.43_48del|uc001xpr.2,p.43_48del|ENST00000356924,p.43_48del|NM_005050,p.43_48del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xpr.2	nonframeshift deletion	exon2	c.128_142del	p.43_48del	LFPSWSSQNALMFLTLLCLTLLEQF	LFPSWSSQNALMCLTLLEQFVIYQV	9.0	2.0	unscreened	-	1913_14:74766868-74766882 ACAAAAGGGTCAGGA>-_LFPSWSSQNALMCLTLLEQFVIYQV
8:144812596-144812596 G>A	1.0	1913	MELANOMA	-	-	-	-	FAM83H	uc003yzk.3,p.P53S|NM_198488,p.P53S|uc022bch.1,p.P53S|ENST00000388913,p.P53S	protein_coding, nonsense_mediated_decay	uc022bch.1	nonsynonymous SNV	exon1	c.C157T	p.P53S	EAYSRFLATEGAPDFLCPEELEHVS	EAYSRFLATEGASDFLCPEELEHVS	6.0	7.0	unscreened	-	1913_8:144812596-144812596 G>A_EAYSRFLATEGASDFLCPEELEHVS
3:52692292-52692292 G>A	1.0	1913	MELANOMA	-	-	-	1	PBRM1	ENST00000431678,p.L190F|uc010hmk.1,p.L190F|ENST00000446103,p.L134F|uc003der.2,p.L190F|uc003dfb.1,p.L88F|uc003dez.1,p.L190F|NM_018313,p.L190F|uc003deu.2,p.L190F|ENST00000394830,p.L190F|ENST00000423351,p.L190F|ENST00000337303,p.L190F|ENST00000356770,p.L190F|ENST00000296302,p.L190F|ENST00000412587,p.L190F|ENST00000409767,p.L190F|ENST00000409057,p.L190F|uc003deq.2,p.L190F|ENST00000409114,p.L190F|uc003dey.2,p.L190F|ENST00000410007,p.L190F|uc003dew.2,p.L190F|uc003des.2,p.L190F|uc003det.2,p.L190F	retained_intron, protein_coding, nonsense_mediated_decay	uc010hmk.1	nonsynonymous SNV	exon5	c.C568T	p.L190F	SPAYLKEILEQLLEAIVVATNPSGR	SPAYLKEILEQLFEAIVVATNPSGR	7.0	9.0	unscreened	-	1913_3:52692292-52692292 G>A_SPAYLKEILEQLFEAIVVATNPSGR
4:103822441-103822441 G>A	1.0	1913	MELANOMA	-	-	-	-	SLC9B1	uc003hww.3,p.H461Y|NM_139173,p.H461Y|ENST00000296422,p.H461Y|uc011cev.2,p.H234Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cev.2	nonsynonymous SNV	exon9	c.C700T	p.H234Y	PLALETARVSAPHLEPYAKDVMTVA	PLALETARVSAPYLEPYAKDVMTVA	5.0	1.0	unscreened	-	1913_4:103822441-103822441 G>A_PLALETARVSAPYLEPYAKDVMTVA
2:74755126-74755126 G>A	1.0	1913	MELANOMA	-	-	ID=COSM259586;OCCURENCE=1(endometrium),1(large_intestine)	-	AUP1	ENST00000377526,p.R227C|uc002smf.3,p.R227C|ENST00000425118,p.R227C|NM_181575,p.R227C|uc010yrx.2,p.R284C|uc021vjm.1,p.R136C|uc002smh.3,p.R136C	retained_intron, protein_coding, nonsense_mediated_decay	uc021vjm.1	nonsynonymous SNV	exon6	c.C406T	p.R136C	FVPFTVYQVRWLRPVHRQLGEANEE	FVPFTVYQVRWLCPVHRQLGEANEE	10.0	5.0	unscreened	-	1913_2:74755126-74755126 G>A_FVPFTVYQVRWLCPVHRQLGEANEE
1:145457256-145457256 C>T	1.0	1913	MELANOMA	-	-	-	-	POLR3GL	uc001enp.1,p.E146K|ENST00000369314,p.E146K|NM_032305,p.E146K|ENST00000369313,p.E123K	retained_intron, protein_coding	uc001enp.1	nonsynonymous SNV	exon6	c.G436A	p.E146K	PKRPPKTTEDKEETIQKLETLEKKE	PKRPPKTTEDKEKTIQKLETLEKKE	9.0	9.0	unscreened	-	1913_1:145457256-145457256 C>T_PKRPPKTTEDKEKTIQKLETLEKKE
10:81067248-81067248 C>T	1.0	1913	MELANOMA	-	-	-	-	ZMIZ1	uc001kag.2,p.P795S|NM_020338,p.P919S|uc010qlq.1,p.P72S|uc001kaf.2,p.P919S|ENST00000334512,p.P919S|ENST00000446377,p.P72S	protein_coding, processed_transcript	uc010qlq.1	nonsynonymous SNV	exon2	c.C214T	p.P72S	GGTSMNDFMHGPPQLSHPPDMPNNM	GGTSMNDFMHGPSQLSHPPDMPNNM	9.0	8.0	unscreened	-	1913_10:81067248-81067248 C>T_GGTSMNDFMHGPSQLSHPPDMPNNM
6:2954867-2954867 G>A	1.0	1913	MELANOMA	-	-	-	-	SERPINB6	uc003mul.4,p.S130F|uc003muo.3,p.S130F|ENST00000335686,p.S130F|uc003muk.3,p.S130F|ENST00000380546,p.S130F|NM_001195291,p.S134F|ENST00000380539,p.S130F|NM_001271825,p.S130F|NM_001297699,p.S130F|ENST00000380524,p.S130F|uc031smn.1,p.S149F|NM_001297700,p.S130F|uc031smo.1,p.S144F|NM_004568,p.S130F|uc003mum.4,p.S130F|NM_001271823,p.S149F|uc003mun.4,p.S134F|ENST00000380529,p.S130F|NM_001271822,p.S144F|NM_001271824,p.S130F|ENST00000380520,p.S130F	protein_coding	uc031smo.1	nonsynonymous SNV	exon4	c.C431T	p.S144F	MEELDFISAVEKSRKHINTWVAEKT	MEELDFISAVEKFRKHINTWVAEKT	10.0	4.0	unscreened	-	1913_6:2954867-2954867 G>A_MEELDFISAVEKFRKHINTWVAEKT
22:42462722-42462722 G>T	1.0	1913	MELANOMA	-	-	-	-	NAGA	ENST00000403363,p.P197T|ENST00000402937,p.P197T|uc003bbw.4,p.P197T|ENST00000396398,p.P197T|NM_000262,p.P197T	protein_coding	uc003bbw.4	nonsynonymous SNV	exon5	c.C589A	p.P197T	FSCSWPAYEGGLPPRVNYSLLADIC	FSCSWPAYEGGLTPRVNYSLLADIC	9.0	4.0	unscreened	-	1913_22:42462722-42462722 G>T_FSCSWPAYEGGLTPRVNYSLLADIC
2:170411649-170411649 C>T	1.0	1913	MELANOMA	-	-	-	-	FASTKD1	uc002uev.4,p.R400K|NM_001281476,p.R400K|NM_024622,p.R400K|uc002uex.5,p.R400K|ENST00000453153,p.R400K|ENST00000453929,p.R400K	retained_intron, protein_coding, processed_transcript	uc002uex.5	nonsynonymous SNV	exon7	c.G1199A	p.R400K	LHFQRKEFFAKLRELLLSYLKNSFI	LHFQRKEFFAKLKELLLSYLKNSFI	8.0	6.0	unscreened	-	1913_2:170411649-170411649 C>T_LHFQRKEFFAKLKELLLSYLKNSFI
1:150998120-150998120 C>T	1.0	1913	MELANOMA	-	-	-	-	PRUNE	NM_021222,p.S217F|ENST00000368937,p.S35F|ENST00000271619,p.S58F|ENST00000368934,p.S35F|uc001ewk.1,p.S35F|ENST00000271620,p.S217F|ENST00000431193,p.S35F|uc001ewi.1,p.S35F|uc001ewh.1,p.S217F|ENST00000368936,p.S35F|ENST00000450884,p.S35F	protein_coding, processed_transcript	uc001ewk.1	nonsynonymous SNV	exon2	c.C104T	p.S35F	FPDLPKRNDIFDSLQKAKFDVSGLT	FPDLPKRNDIFDFLQKAKFDVSGLT	7.0	2.0	unscreened	-	1913_1:150998120-150998120 C>T_FPDLPKRNDIFDFLQKAKFDVSGLT
19:49442749-49442749 C>T	1.0	1913	MELANOMA	-	-	-	-	DHDH	NM_014475,p.S137F|ENST00000221403,p.S137F|ENST00000522614,p.S137F|uc002ple.1,p.S137F	protein_coding, nonsense_mediated_decay	uc002ple.1	nonsynonymous SNV	exon4	c.C410T	p.S137F	WTRFFPASEALRSVLAQGTLGDLRV	WTRFFPASEALRFVLAQGTLGDLRV	4.0	4.0	unscreened	-	1913_19:49442749-49442749 C>T_WTRFFPASEALRFVLAQGTLGDLRV
16:31072993-31072993 G>A	1.0	1913	MELANOMA	-	-	-	-	ZNF668	ENST00000417110,p.A61T	protein_coding	ENST00000417110	nonsynonymous SNV	exon1	c.G181A	p.A61T	PTTSSCAGGTPAASLLRWVRSCFLR	PTTSSCAGGTPATSLLRWVRSCFLR	7.0	2.0	unscreened	-	1913_16:31072993-31072993 G>A_PTTSSCAGGTPATSLLRWVRSCFLR
16:28841951-28841951 C>T	1.0	1913	MELANOMA	0.0018	-	-	-	ATXN2L	ENST00000565971,p.S164F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000565971	nonsynonymous SNV	exon5	c.C491T	p.S164F	RAPAWHPGRGSISLCLNESGKVPGE	RAPAWHPGRGSIFLCLNESGKVPGE	10.0	7.0	unscreened	-	1913_16:28841951-28841951 C>T_RAPAWHPGRGSIFLCLNESGKVPGE
11:62284583-62284583 G>A	1.0	1913	MELANOMA	-	-	-	-	AHNAK	ENST00000378024,p.S5769F|NM_001620,p.S5769F|uc001ntl.3,p.S5769F	protein_coding, processed_transcript	uc001ntl.3	nonsynonymous SNV	exon5	c.C17306T	p.S5769F	AEAEASSPKGKFSLFKSKKPRHRSN	AEAEASSPKGKFFLFKSKKPRHRSN	9.0	3.0	unscreened	-	1913_11:62284583-62284583 G>A_AEAEASSPKGKFFLFKSKKPRHRSN
7:87780311-87780311 C>T	1.0	1913	MELANOMA	-	-	-	-	ADAM22	ENST00000398209,p.H528Y|ENST00000398204,p.H528Y|NM_021723,p.H528Y|ENST00000265727,p.H528Y|NM_021722,p.H528Y|NM_004194,p.H528Y|uc003ujo.3,p.H528Y|uc003ujp.1,p.H580Y|ENST00000398203,p.H495Y|uc003ujk.2,p.H528Y|ENST00000398201,p.H528Y|uc003ujl.2,p.H528Y|ENST00000315984,p.H528Y|NM_016351,p.H528Y|NM_021721,p.H528Y|uc003ujn.3,p.H528Y|uc003ujm.3,p.H528Y	protein_coding, processed_transcript	uc003ujp.1	nonsynonymous SNV	exon18	c.C1738T	p.H580Y	CSGNSSQCAPNIHKMDGYSCDGVQG	CSGNSSQCAPNIYKMDGYSCDGVQG	6.0	5.0	unscreened	-	1913_7:87780311-87780311 C>T_CSGNSSQCAPNIYKMDGYSCDGVQG
3:49691911-49691911 C>T	1.0	1913	MELANOMA	-	-	-	-	BSN	uc003cxe.4,p.S1641F|NM_003458,p.S1641F|ENST00000296452,p.S1641F	retained_intron, protein_coding	uc003cxe.4	nonsynonymous SNV	exon5	c.C4922T	p.S1641F	LYGWGALPAENISLCRISSVPGTSR	LYGWGALPAENIFLCRISSVPGTSR	5.0	2.0	unscreened	-	1913_3:49691911-49691911 C>T_LYGWGALPAENIFLCRISSVPGTSR
3:43122131-43122131 G>A	1.0	1913	MELANOMA	-	-	-	-	POMGNT2	ENST00000344697,p.R265W|NM_032806,p.R265W|uc021wwn.1,p.R265W|ENST00000441964,p.R265W|uc003cmq.2,p.R265W|uc003cmr.2,p.R265W	protein_coding	uc021wwn.1	nonsynonymous SNV	exon1	c.C793T	p.R265W	PKANILVSGNEIRQFARFMTEKLNV	PKANILVSGNEIWQFARFMTEKLNV	9.0	9.0	unscreened	-	1913_3:43122131-43122131 G>A_PKANILVSGNEIWQFARFMTEKLNV
17:29653256-29653256 A>G	1.0	1913	MELANOMA	-	-	-	1	NF1	uc002hgh.3,p.K1731E|uc002hgi.1,p.K764E|ENST00000358273,p.K1752E|NM_001042492,p.K1752E|ENST00000356175,p.K1731E|uc002hgg.3,p.K1752E|NM_000267,p.K1731E|ENST00000456735,p.K1397E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002hgi.1	nonsynonymous SNV	exon19	c.A2290G	p.K764E	FHNALKLAHKDTKVSIKVGSTAVQV	FHNALKLAHKDTEVSIKVGSTAVQV	6.0	9.0	unscreened	-	1913_17:29653256-29653256 A>G_FHNALKLAHKDTEVSIKVGSTAVQV
17:47793602-47793602 C>T	1.0	1913	MELANOMA	-	-	-	-	FAM117A	ENST00000513602,p.R57Q|uc002ipk.3,p.R329Q|ENST00000240364,p.R329Q|NM_030802,p.R329Q|uc010wlz.2,p.R57Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wlz.2	nonsynonymous SNV	exon7	c.G170A	p.R57Q	SPSPVLAFAASPRPNHSYIFKREPP	SPSPVLAFAASPQPNHSYIFKREPP	5.0	6.0	unscreened	-	1913_17:47793602-47793602 C>T_SPSPVLAFAASPQPNHSYIFKREPP
2:70529122-70529122 G>A	1.0	1913	MELANOMA	-	-	-	-	FAM136A	ENST00000430566,p.R8W|NM_032822,p.R8W|uc002sgq.4,p.R8W|ENST00000450256,p.R8W|ENST00000037869,p.R8W	retained_intron, protein_coding	uc002sgq.4	nonsynonymous SNV	exon1	c.C22T	p.R8W	MAELQQLRVQEAVESMVKSL	MAELQQLWVQEAVESMVKSL	10.0	5.0	unscreened	-	1913_2:70529122-70529122 G>A_MAELQQLWVQEAVESMVKSL
1:45974790-45974790 C>T	1.0	1913	MELANOMA	-	-	-	-	MMACHC	uc009vxv.3,p.P251L|ENST00000401061,p.P251L|NM_015506,p.P251L	protein_coding, processed_transcript, nonsense_mediated_decay	uc009vxv.3	nonsynonymous SNV	exon4	c.C752T	p.P251L	PSEKPSSPSPDLPFTTPAPKKPGNP	PSEKPSSPSPDLLFTTPAPKKPGNP	6.0	9.0	unscreened	-	1913_1:45974790-45974790 C>T_PSEKPSSPSPDLLFTTPAPKKPGNP
7:99084299-99084299 C>G	1.0	1913	MELANOMA	-	-	-	-	ZNF789	uc003uqr.1,p.Q98E|NM_213603,p.Q156E|ENST00000331410,p.Q156E|uc003uqq.1,p.Q156E|uc010lfw.1,p.Q61E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lfw.1	nonsynonymous SNV	exon7	c.C181G	p.Q61E	PTSGDEYSRGFLQNLNLIQDQNAQT	PTSGDEYSRGFLENLNLIQDQNAQT	8.0	1.0	unscreened	-	1913_7:99084299-99084299 C>G_PTSGDEYSRGFLENLNLIQDQNAQT
4:1388460-1388460 G>A	0.0	1913	MELANOMA	-	rs13129256	-	-	CRIPAK	ENST00000324803,p.R54H|uc003gdf.2,p.R54H|NM_175918,p.R54H	protein_coding	uc003gdf.2	nonsynonymous SNV	exon1	c.G161A	p.R54H	VPACSHMPMWSARLLTRAHVECPPA	VPACSHMPMWSAHLLTRAHVECPPA	6.0	2.0	unscreened	-	1913_4:1388460-1388460 G>A_VPACSHMPMWSAHLLTRAHVECPPA
5:176942692-176942692 G>A	1.0	1913	MELANOMA	-	-	-	-	DDX41	ENST00000509576,p.P189S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000509576	nonsynonymous SNV	exon6	c.C565T	p.P189S	PPPIKSFKEMKFPAGVVPVLQALGL	PPPIKSFKEMKFSAGVVPVLQALGL	10.0	3.0	unscreened	-	1913_5:176942692-176942692 G>A_PPPIKSFKEMKFSAGVVPVLQALGL
1:115142028-115142028 G>A	1.0	1913	MELANOMA	-	-	-	-	DENND2C	uc001efc.1,p.P660L|NM_198459,p.P660L|uc001efd.1,p.P717L|NM_001256404,p.P717L|ENST00000393276,p.P660L|ENST00000393274,p.P717L	protein_coding, processed_transcript	uc001efd.1	nonsynonymous SNV	exon16	c.C2150T	p.P717L	SKCGHAVVATLYPFTWQHTYIPVLP	SKCGHAVVATLYLFTWQHTYIPVLP	4.0	9.0	unscreened	-	1913_1:115142028-115142028 G>A_SKCGHAVVATLYLFTWQHTYIPVLP
17:10542225-10542225 C>T	1.0	1913	MELANOMA	-	-	-	-	MYH3	ENST00000583535,p.G1102S|uc002gmq.2,p.G1102S|NM_002470,p.G1102S|ENST00000226209,p.G1102S	retained_intron, protein_coding	uc002gmq.2	nonsynonymous SNV	exon26	c.G3304A	p.G1102S	QLQSKVEDEQTLGLQFQKKIKELQA	QLQSKVEDEQTLSLQFQKKIKELQA	6.0	2.0	unscreened	-	1913_17:10542225-10542225 C>T_QLQSKVEDEQTLSLQFQKKIKELQA
10:133761147-133761147 C>T	1.0	1913	MELANOMA	-	-	-	-	PPP2R2D	ENST00000422256,p.P84L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000422256	nonsynonymous SNV	exon6	c.C251T	p.P84L	FSHSGRYMMTRDPVGEGVGPQHRAG	FSHSGRYMMTRDLVGEGVGPQHRAG	7.0	4.0	unscreened	-	1913_10:133761147-133761147 C>T_FSHSGRYMMTRDLVGEGVGPQHRAG
2:39050331-39050331 G>A	1.0	1913	MELANOMA	-	-	-	-	DHX57	NM_198963,p.S1032F|uc002rre.3,p.S465F|uc002rrf.3,p.S1032F|ENST00000295373,p.S1032F|uc002rrd.4,p.S416F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002rrf.3	nonsynonymous SNV	exon17	c.C3095T	p.S1032F	VFSRLIEPPHTDSLRASKIRLRDLG	VFSRLIEPPHTDFLRASKIRLRDLG	8.0	4.0	unscreened	-	1913_2:39050331-39050331 G>A_VFSRLIEPPHTDFLRASKIRLRDLG
14:78397960-78397960 G>A	1.0	1913	MELANOMA	-	-	-	-	ADCK1	NM_001142545,p.D368N|ENST00000238561,p.D436N|uc001xul.3,p.D143N|NM_020421,p.D436N|ENST00000341211,p.D368N|uc001xui.3,p.D436N|uc001xuj.3,p.D368N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xul.3	nonsynonymous SNV	exon3	c.G427A	p.D143N	VPRQMLLILKTNDLLRGIEAALGTR	VPRQMLLILKTNNLLRGIEAALGTR	6.0	2.0	unscreened	-	1913_14:78397960-78397960 G>A_VPRQMLLILKTNNLLRGIEAALGTR
19:37676542-37676542 G>A	1.0	1913	MELANOMA	-	-	-	-	ZNF585B	uc002ofr.1,p.P447S|ENST00000532828,p.P633S|uc002ofq.3,p.P633S|NM_152279,p.P633S|ENST00000531805,p.P578S|ENST00000312908,p.P221S	protein_coding, processed_transcript, nonsense_mediated_decay	uc002ofr.1	nonsynonymous SNV	exon6	c.C1339T	p.P447S	LLVHQPVHTGEKPYVCAECGKAFSG	LLVHQPVHTGEKSYVCAECGKAFSG	5.0	4.0	unscreened	-	1913_19:37676542-37676542 G>A_LLVHQPVHTGEKSYVCAECGKAFSG
1:10197160-10197160 C>T	1.0	1913	MELANOMA	-	-	-	-	UBE4B	uc021ogc.1,p.P805S|ENST00000377157,p.P509S|ENST00000253251,p.P625S|uc001aqr.4,p.P625S|uc010oaj.2,p.P209S|ENST00000343090,p.P754S|NM_001105562,p.P754S|NM_006048,p.P625S|uc001aqs.4,p.P754S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ogc.1	nonsynonymous SNV	exon18	c.C2413T	p.P805S	YGDQPPFSEPKFPTECFFLTLHAHH	YGDQPPFSEPKFSTECFFLTLHAHH	9.0	2.0	unscreened	-	1913_1:10197160-10197160 C>T_YGDQPPFSEPKFSTECFFLTLHAHH
20:45016002-45016002 A>T	1.0	1913	MELANOMA	-	-	-	-	ELMO2	ENST00000439931,p.M167K|uc002xrt.1,p.M167K|ENST00000372176,p.M79K|ENST00000450812,p.M167K|NM_182764,p.M167K|ENST00000352077,p.M165K|uc002xrx.1,p.M167K|ENST00000396391,p.M167K|uc010zxr.1,p.M167K|uc002xru.1,p.M167K|NM_133171,p.M167K|ENST00000290246,p.M167K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zxr.1	nonsynonymous SNV	exon8	c.T500A	p.M167K	LELMDHGIVSWDMVSITFIKQIAGY	LELMDHGIVSWDKVSITFIKQIAGY	9.0	5.0	unscreened	-	1913_20:45016002-45016002 A>T_LELMDHGIVSWDKVSITFIKQIAGY
19:19389599-19389599 G>A	1.0	1913	MELANOMA	-	-	-	-	SUGP1	uc002nmh.3,p.A512V|NM_172231,p.A512V|uc002nme.3,p.A62V|uc002nmj.3,p.A302V|ENST00000247001,p.A512V|uc002nmg.3,p.A62V|uc002nmi.3,p.A302V|uc002nmf.3,p.A62V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nmj.3	nonsynonymous SNV	exon10	c.C905T	p.A302V	LRRMEMDKTREWAEQLTKMGRGKHF	LRRMEMDKTREWVEQLTKMGRGKHF	8.0	2.0	unscreened	-	1913_19:19389599-19389599 G>A_LRRMEMDKTREWVEQLTKMGRGKHF
5:112177692-112177692 C>T	1.0	1913	MELANOMA	-	-	-	1	APC	NM_001127510,p.S2134F|uc003kpy.4,p.S2134F|uc010jca.3,p.S1434F|uc011cvt.2,p.S2116F|NM_001127511,p.S2116F|ENST00000508376,p.S2134F|ENST00000257430,p.S2134F|uc010jbz.3,p.S1851F|uc003kpz.4,p.S2134F|NM_000038,p.S2134F|ENST00000457016,p.S2134F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cvt.2	nonsynonymous SNV	exon14	c.C6347T	p.S2116F	ACLSRQASSDSDSILSLKSGISLGS	ACLSRQASSDSDFILSLKSGISLGS	6.0	3.0	unscreened	-	1913_5:112177692-112177692 C>T_ACLSRQASSDSDFILSLKSGISLGS
11:63679968-63679968 C>T	1.0	1913	MELANOMA	-	-	-	-	RCOR2	ENST00000301459,p.E356K|NM_173587,p.E356K|uc001nyc.3,p.E356K	retained_intron, protein_coding, processed_transcript	uc001nyc.3	nonsynonymous SNV	exon11	c.G1066A	p.E356K	IRRYGKDFGAIAEVIGNKTLTQVKT	IRRYGKDFGAIAKVIGNKTLTQVKT	5.0	7.0	unscreened	-	1913_11:63679968-63679968 C>T_IRRYGKDFGAIAKVIGNKTLTQVKT
20:5953742-5953742 G>A	1.0	1913	MELANOMA	-	-	-	-	MCM8	NM_032485,p.S432N|NM_001281520,p.S432N|NM_001281521,p.S472N|uc002wmk.3,p.S472N|ENST00000265187,p.S416N|NM_182802,p.S416N|uc002wmi.3,p.S432N|uc002wml.3,p.S432N|ENST00000378896,p.S432N|ENST00000378886,p.S472N|uc002wmj.3,p.S416N	protein_coding	uc002wml.3	nonsynonymous SNV	exon12	c.G1295A	p.S432N	VKAGLALALFGGSQKYADDKNRIPI	VKAGLALALFGGNQKYADDKNRIPI	8.0	6.0	unscreened	-	1913_20:5953742-5953742 G>A_VKAGLALALFGGNQKYADDKNRIPI
11:76063196-76063196 G>A	1.0	1913	MELANOMA	-	-	-	-	PRKRIR	NM_004705,p.S333F|uc001oxh.1,p.S333F|uc021qnn.1,p.S158F|ENST00000260045,p.S333F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qnn.1	nonsynonymous SNV	exon1	c.C473T	p.S158F	NMEYCRGQAYIVSSGFSSKMKVVAS	NMEYCRGQAYIVFSGFSSKMKVVAS	7.0	8.0	unscreened	-	1913_11:76063196-76063196 G>A_NMEYCRGQAYIVFSGFSSKMKVVAS
3:141900392-141900392 A>G	1.0	1913	MELANOMA	-	-	-	-	GK5	ENST00000392993,p.I320T|NM_001039547,p.I320T|uc003euq.2,p.I320T|uc003eup.1,p.I41T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003euq.2	nonsynonymous SNV	exon11	c.T959C	p.I320T	SLQQTTGGFYPLIGWKIGQEVVCLA	SLQQTTGGFYPLTGWKIGQEVVCLA	6.0	9.0	unscreened	-	1913_3:141900392-141900392 A>G_SLQQTTGGFYPLTGWKIGQEVVCLA
11:674742-674742 G>A	1.0	1913	MELANOMA	-	-	-	-	DEAF1	NM_001293634,p.P344S|uc001lqq.1,p.P433S|NM_021008,p.P433S|ENST00000338675,p.P344S|uc021qbn.1,p.P344S|ENST00000382409,p.P433S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qbn.1	nonsynonymous SNV	exon8	c.C1030T	p.P344S	TSLPALAVPPPTPTKAAPPALVNGL	TSLPALAVPPPTSTKAAPPALVNGL	8.0	9.0	unscreened	-	1913_11:674742-674742 G>A_TSLPALAVPPPTSTKAAPPALVNGL
4:129793232-129793232 G>T	1.0	1913	MELANOMA	-	-	-	-	JADE1	NM_001287442,p.G782C|uc003igl.3,p.G770C|NM_001287440,p.G782C|ENST00000512960,p.G782C|NM_199320,p.G782C|NM_001287437,p.G770C|NM_001287443,p.G782C|NM_001287439,p.G782C|ENST00000226319,p.G782C|uc003igk.3,p.G782C|uc011cgy.2,p.G782C|ENST00000452328,p.G770C	protein_coding, nonsense_mediated_decay	uc011cgy.2	nonsynonymous SNV	exon11	c.G2344T	p.G782C	CHQHSDYPYLGLGRVPAKERAKSKL	CHQHSDYPYLGLCRVPAKERAKSKL	6.0	9.0	unscreened	-	1913_4:129793232-129793232 G>T_CHQHSDYPYLGLCRVPAKERAKSKL
5:115469792-115469792 C>T	1.0	1913	MELANOMA	-	-	-	-	COMMD10	uc003krt.1,p.L143F|ENST00000274458,p.L143F|NM_016144,p.L143F|ENST00000515539,p.L129F	protein_coding, processed_transcript, nonsense_mediated_decay	uc003krt.1	nonsynonymous SNV	exon5	c.C427T	p.L143F	PCKLETVGWQLNLQMAHSAQAKLKS	PCKLETVGWQLNFQMAHSAQAKLKS	7.0	1.0	unscreened	-	1913_5:115469792-115469792 C>T_PCKLETVGWQLNFQMAHSAQAKLKS
17:19285490-19285490 C>T	1.0	1913	MELANOMA	-	-	-	-	MAPK7	uc002gvo.3,p.S486F|uc002gvn.3,p.S625F|ENST00000395602,p.S625F|uc002gvq.3,p.S625F|NM_139033,p.S625F|ENST00000395604,p.S625F|ENST00000299612,p.S486F|NM_002749,p.S625F|uc002gvp.3,p.S625F|ENST00000308406,p.S625F|NM_139032,p.S486F|NM_139034,p.S625F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gvq.3	nonsynonymous SNV	exon5	c.C1874T	p.S625F	PTGPQPQSAGSTSGPVPQPACPPPG	PTGPQPQSAGSTFGPVPQPACPPPG	8.0	3.0	unscreened	-	1913_17:19285490-19285490 C>T_PTGPQPQSAGSTFGPVPQPACPPPG
15:53081837-53081837 G>A	1.0	1913	MELANOMA	-	-	-	-	ONECUT1	uc002aci.2,p.P82L|NM_004498,p.P82L|ENST00000305901,p.P82L	protein_coding, processed_transcript	uc002aci.2	nonsynonymous SNV	exon1	c.C245T	p.P82L	HHHRAPEHSLAGPLHPTMTMACETP	HHHRAPEHSLAGLLHPTMTMACETP	5.0	9.0	unscreened	-	1913_15:53081837-53081837 G>A_HHHRAPEHSLAGLLHPTMTMACETP
1:145290446-145290446 C>T	0.0	1913	MELANOMA	-	-	-	-	NBPF25P	uc001emo.2,p.P218S|ENST00000344859,p.P218S	protein_coding, processed_transcript	uc001emo.2	nonsynonymous SNV	exon5	c.C652T	p.P218S	ECNCLPATWPIFPKLLSLQEKESYC	ECNCLPATWPIFSKLLSLQEKESYC	6.0	1.0	unscreened	-	1913_1:145290446-145290446 C>T_ECNCLPATWPIFSKLLSLQEKESYC
1:231906800-231906800 C>T	1.0	1913	MELANOMA	-	-	-	-	DISC1	uc010pxh.2,p.P572S|uc001hva.3,p.P540S|uc001huz.3,p.P540S|NM_018662,p.P540S|ENST00000602281,p.P540S|uc010pwi.1,p.P495S|uc010pxf.2,p.P540S|ENST00000366633,p.P540S|uc010pwj.1,p.P529S|uc010pwg.1,p.P529S|NM_001164541,p.P540S|NM_001164545,p.P540S|uc010pws.1,p.P540S|uc010pxj.1,p.P185S|ENST00000535983,p.P540S|NM_001164542,p.P540S|uc010pwk.1,p.P529S|uc010pwh.1,p.P495S|uc010pwr.1,p.P540S|uc001huy.3,p.P540S|uc010pxn.1,p.P185S|NM_001164538,p.P540S|NM_001164544,p.P540S|ENST00000539444,p.P540S|ENST00000439617,p.P540S|uc009xfr.3,p.P495S|uc010pxe.2,p.P540S|uc010pxd.2,p.P185S|NM_001012959,p.P540S|NM_001164539,p.P540S|NM_001164537,p.P572S|uc010pww.2,p.P540S|ENST00000366636,p.P540S|NM_001012957,p.P540S|uc010pxb.1,p.P540S	retained_intron, protein_coding	uc010pxn.1	nonsynonymous SNV	exon5	c.C553T	p.P185S	ASAGQIPFHAEPPETIRSLQERIKS	ASAGQIPFHAEPSETIRSLQERIKS	6.0	6.0	unscreened	-	1913_1:231906800-231906800 C>T_ASAGQIPFHAEPSETIRSLQERIKS
6:88240509-88240509 A>G	1.0	1913	MELANOMA	-	-	-	-	RARS2	ENST00000369536,p.V255A|uc003pmc.3,p.V80A|uc003pme.3,p.V255A|NM_020320,p.V255A	protein_coding, processed_transcript	uc003pme.3	nonsynonymous SNV	exon9	c.T764C	p.V255A	KFRDLSIEEYIRVYKRLGVYFDEYS	KFRDLSIEEYIRAYKRLGVYFDEYS	8.0	2.0	unscreened	-	1913_6:88240509-88240509 A>G_KFRDLSIEEYIRAYKRLGVYFDEYS
6:30670900-30670900 G>A	1.0	1913	MELANOMA	-	-	-	-	MDC1	uc003nrg.4,p.S1949F|ENST00000376405,p.S1685F|uc003nrf.4,p.S580F|NM_014641,p.S1949F|ENST00000376406,p.S1949F	retained_intron, protein_coding, processed_transcript	uc003nrg.4	nonsynonymous SNV	exon12	c.C5846T	p.S1949F	FLCALGRGIPILSLDWLHQSRKAGF	FLCALGRGIPILFLDWLHQSRKAGF	9.0	7.0	unscreened	-	1913_6:30670900-30670900 G>A_FLCALGRGIPILFLDWLHQSRKAGF
12:120575587-120575587 G>A	1.0	1913	MELANOMA	-	-	-	-	GCN1L1	NM_006836,p.S2142F|ENST00000300648,p.S2142F|uc001txo.3,p.S2142F	retained_intron, protein_coding	uc001txo.3	nonsynonymous SNV	exon49	c.C6425T	p.S2142F	QLEMANCQAVILSVEDDTGHRIIIE	QLEMANCQAVILFVEDDTGHRIIIE	9.0	2.0	unscreened	-	1913_12:120575587-120575587 G>A_QLEMANCQAVILFVEDDTGHRIIIE
16:11864665-11864665 G>A	1.0	1913	MELANOMA	-	-	-	-	ZC3H7A	NM_014153,p.S361L|ENST00000355758,p.S361L|uc002dbl.3,p.S361L|ENST00000396516,p.S361L|ENST00000576009,p.S189L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dbl.3	nonsynonymous SNV	exon10	c.C1082T	p.S361L	TSSLEDFCSSLNSFSMSESKRDLST	TSSLEDFCSSLNLFSMSESKRDLST	8.0	2.0	unscreened	-	1913_16:11864665-11864665 G>A_TSSLEDFCSSLNLFSMSESKRDLST
6:56418306-56418306 G>A	1.0	1913	MELANOMA	-	-	-	-	DST	ENST00000370788,p.S2798L|uc021zba.2,p.S2976L|ENST00000446842,p.S4560L|ENST00000244364,p.S2472L|NM_015548,p.S2472L|ENST00000370754,p.S5064L|ENST00000361203,p.S4884L|ENST00000421834,p.S2798L|uc021zaz.2,p.S2798L|NM_001144770,p.S2838L|NM_001144769,p.S2976L|ENST00000370769,p.S4886L|uc003pcy.4,p.S2472L|uc021zay.2,p.S2838L|NM_183380,p.S2798L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zba.2	nonsynonymous SNV	exon55	c.C8927T	p.S2976L	SHPISAKLDVLESLIKDHKDFSKTL	SHPISAKLDVLELLIKDHKDFSKTL	10.0	2.0	unscreened	-	1913_6:56418306-56418306 G>A_SHPISAKLDVLELLIKDHKDFSKTL
20:31984609-31984609 G>A	1.0	1913	MELANOMA	-	-	-	-	CDK5RAP1	uc002wzc.2,p.P88S|ENST00000339269,p.P88S|NM_001278167,p.P88S|uc010gen.4,p.P88S|NM_016082,p.P89S|NM_001278168,p.P88S|NM_016408,p.P88S|uc002wyz.4,p.P88S|ENST00000544843,p.P88S|ENST00000346416,p.P88S|NM_001278169,p.P61S|uc010gem.4,p.P88S|uc010gel.4,p.P61S|uc002wza.4,p.P88S|ENST00000357886,p.P88S|uc010gek.4,p.P88S	retained_intron, protein_coding, processed_transcript	uc010gen.4	nonsynonymous SNV	exon2	c.C262T	p.P88S	QEKLSSEVEDPPPYLMMDELLGRQR	QEKLSSEVEDPPSYLMMDELLGRQR	9.0	7.0	unscreened	-	1913_20:31984609-31984609 G>A_QEKLSSEVEDPPSYLMMDELLGRQR
5:137681142-137681142 C>T	1.0	1913	MELANOMA	-	-	-	-	FAM53C	ENST00000513056,p.P65L|uc011cyr.2,p.P71L	retained_intron, protein_coding, processed_transcript	uc011cyr.2	nonsynonymous SNV	exon2	c.C212T	p.P71L	ASCPLPGALPHPPQSCPGDLEVSAT	ASCPLPGALPHPLQSCPGDLEVSAT	8.0	2.0	unscreened	-	1913_5:137681142-137681142 C>T_ASCPLPGALPHPLQSCPGDLEVSAT
11:6422772-6422772 G>A	1.0	1913	MELANOMA	-	-	-	-	APBB1	ENST00000533407,p.A251V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000533407	nonsynonymous SNV	exon8	c.C752T	p.A251V	SKARPPPLPGLVATFALQGCGWGH	SKARPPPLPGLVVTFALQGCGWGH	9.0	8.0	unscreened	-	1913_11:6422772-6422772 G>A_SKARPPPLPGLVVTFALQGCGWGH
12:56636982-56636982 G>A	1.0	1913	MELANOMA	-	-	-	-	ANKRD52	NM_173595,p.P1059S|ENST00000267116,p.P1059S|uc001skm.4,p.P1059S	retained_intron, protein_coding, processed_transcript	uc001skm.4	nonsynonymous SNV	exon28	c.C3175T	p.P1059S	GGCGALPHGASCPYSQERPGAIGLD	GGCGALPHGASCSYSQERPGAIGLD	8.0	9.0	unscreened	-	1913_12:56636982-56636982 G>A_GGCGALPHGASCSYSQERPGAIGLD
11:66633671-66633671 G>A	1.0	1913	MELANOMA	-	-	-	-	PC	NM_001040716,p.T391I|uc001ojn.1,p.T391I|NM_022172,p.T391I|ENST00000355677,p.T391I|uc001ojp.1,p.T391I|NM_000920,p.T391I|ENST00000393955,p.T391I|ENST00000393960,p.T391I|ENST00000393958,p.T391I|ENST00000524491,p.T351I|uc001ojo.1,p.T391I	protein_coding, processed_transcript	uc001ojp.1	nonsynonymous SNV	exon10	c.C1172T	p.T391I	TTEDPARSFQPDTGRIEVFRSGEGM	TTEDPARSFQPDIGRIEVFRSGEGM	9.0	9.0	unscreened	-	1913_11:66633671-66633671 G>A_TTEDPARSFQPDIGRIEVFRSGEGM
1:147096288-147096288 T>A	1.0	1913	MELANOMA	-	-	-	1	BCL9	uc001epq.3,p.F1270Y|NM_004326,p.F1270Y|ENST00000234739,p.F1270Y|uc010ozr.1,p.F1184Y	protein_coding, processed_transcript	uc010ozr.1	nonsynonymous SNV	exon7	c.T3551A	p.F1184Y	PGRKQPQGPGPGFSHMQGMMGEQAP	PGRKQPQGPGPGYSHMQGMMGEQAP	8.0	3.0	unscreened	-	1913_1:147096288-147096288 T>A_PGRKQPQGPGPGYSHMQGMMGEQAP
22:29442708-29442708 C>T	1.0	1913	MELANOMA	-	-	-	2	ZNRF3	NM_001206998,p.S250F|ENST00000406323,p.S150F|uc003aeg.3,p.S250F|uc021wnq.1,p.S150F|ENST00000332811,p.S150F|ENST00000544604,p.S250F|ENST00000402174,p.S150F|NM_032173,p.S150F	protein_coding	uc021wnq.1	nonsynonymous SNV	exon6	c.C449T	p.S150F	VKIKLKQRRSQNSMNRLAVQALEKM	VKIKLKQRRSQNFMNRLAVQALEKM	6.0	5.0	unscreened	-	1913_22:29442708-29442708 C>T_VKIKLKQRRSQNFMNRLAVQALEKM
21:30409714-30409714 C>T	1.0	1913	MELANOMA	-	-	-	-	USP16	uc002ymw.3,p.S189F|NM_001032410,p.S189F|NM_001001992,p.S188F|ENST00000399976,p.S189F|NM_006447,p.S189F|ENST00000334352,p.S189F|uc002ymx.3,p.S188F|uc011acm.2,p.S174F|uc002ymy.3,p.S189F|ENST00000399975,p.S188F	retained_intron, protein_coding	uc011acm.2	nonsynonymous SNV	exon5	c.C521T	p.S174F	KENMAKENPPMNSPCQITVKGLSNL	KENMAKENPPMNFPCQITVKGLSNL	8.0	5.0	unscreened	-	1913_21:30409714-30409714 C>T_KENMAKENPPMNFPCQITVKGLSNL
8:2005879-2005879 C>T	0.0	1913	MELANOMA	-	-	-	-	MYOM2	uc003wpx.4,p.P181S|NM_003970,p.P181S|ENST00000262113,p.P181S	retained_intron, protein_coding, processed_transcript	uc003wpx.4	nonsynonymous SNV	exon5	c.C541T	p.P181S	MSVKLCFTVQGFPTPVVQWYKDGSL	MSVKLCFTVQGFSTPVVQWYKDGSL	6.0	6.0	unscreened	-	1913_8:2005879-2005879 C>T_MSVKLCFTVQGFSTPVVQWYKDGSL
2:190728926-190728926 C>G	1.0	1913	MELANOMA	-	-	-	2	PMS1	uc010zgc.2,p.L596V|ENST00000441310,p.L772V|ENST00000432292,p.L596V|uc002urh.4,p.L772V|uc002urk.4,p.L733V|NM_001289408,p.L596V|NM_000534,p.L772V|ENST00000418224,p.L596V|ENST00000409823,p.L733V|NM_001289409,p.L596V|ENST00000452382,p.L160V|uc010zgd.2,p.L596V|NM_001128143,p.L733V	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zgd.2	nonsynonymous SNV	exon8	c.C1786G	p.L596V	RLLENHKLPAEPLEKPIMLTESLFN	RLLENHKLPAEPVEKPIMLTESLFN	8.0	5.0	unscreened	-	1913_2:190728926-190728926 C>G_RLLENHKLPAEPVEKPIMLTESLFN
4:69182138-69182138 G>A	1.0	1913	MELANOMA	-	-	-	-	YTHDC1	NM_133370,p.P600L|uc003hdy.3,p.P600L|NM_001031732,p.P618L|ENST00000344157,p.P618L|ENST00000579690,p.P626L|ENST00000355665,p.P600L|uc003hdx.3,p.P618L	retained_intron, protein_coding	uc003hdy.3	nonsynonymous SNV	exon15	c.C1799T	p.P600L	QGMPPYPGMEQPPHHPYYQHHAPPP	QGMPPYPGMEQPLHHPYYQHHAPPP	9.0	9.0	unscreened	-	1913_4:69182138-69182138 G>A_QGMPPYPGMEQPLHHPYYQHHAPPP
16:11864665-11864665 G>A	1.0	1913	MELANOMA	-	-	-	-	ZC3H7A	ENST00000575041,p.S79L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000575041	nonsynonymous SNV	exon2	c.C236T	p.S79L	TSSLEDFCSSLNSFSMSESKRDEWT	TSSLEDFCSSLNLFSMSESKRDEWT	8.0	2.0	unscreened	-	1913_16:11864665-11864665 G>A_TSSLEDFCSSLNLFSMSESKRDEWT
4:1388450-1388450 T>C	0.0	1913	MELANOMA	-	rs13111164	-	-	CRIPAK	uc003gdf.2,p.W51R|ENST00000324803,p.W51R|NM_175918,p.W51R	protein_coding	uc003gdf.2	nonsynonymous SNV	exon1	c.T151C	p.W51R	RCGVPACSHMPMWSARLLTRAHVEC	RCGVPACSHMPMRSARLLTRAHVEC	6.0	1.0	unscreened	-	1913_4:1388450-1388450 T>C_RCGVPACSHMPMRSARLLTRAHVEC
1:32207813-32207813 C>T	1.0	1913	MELANOMA	-	-	-	-	BAI2	uc010ogq.2,p.G420S|uc001bto.3,p.G420S|uc001btn.3,p.G420S|ENST00000398538,p.G408S|ENST00000257070,p.G420S|ENST00000440175,p.G62S|NM_001294335,p.G420S|ENST00000527361,p.G420S|NM_001294336,p.G420S|uc010ogo.2,p.G62S|ENST00000373658,p.G420S|uc010ogr.1,p.G353S|ENST00000373655,p.G420S|ENST00000398547,p.G353S|uc010ogp.2,p.G353S|ENST00000533175,p.G399S|ENST00000398556,p.G368S	retained_intron, protein_coding, processed_transcript	uc010ogr.1	nonsynonymous SNV	exon4	c.G1057A	p.G353S	TKLCSMAACPVEGQWLEWGPWGPCS	TKLCSMAACPVESQWLEWGPWGPCS	8.0	7.0	unscreened	-	1913_1:32207813-32207813 C>T_TKLCSMAACPVESQWLEWGPWGPCS
17:37884064-37884064 G>A	1.0	1913	MELANOMA	-	-	-	1	ERBB2	ENST00000406381,p.G1149R|NM_004448,p.G1179R|uc002hsp.3,p.G982R|ENST00000584601,p.G1149R|ENST00000541774,p.G1164R|uc010wek.2,p.G903R|ENST00000269571,p.G1179R|uc002hsm.3,p.G1149R|NM_001005862,p.G1149R|ENST00000445658,p.G903R|uc010cwa.3,p.G1164R|uc002hso.3,p.G1179R|NM_001289936,p.G1164R|ENST00000540147,p.G1149R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wek.2	nonsynonymous SNV	exon21	c.G2707A	p.G903R	LERPKTLSPGKNGVVKDVFAFGGAV	LERPKTLSPGKNRVVKDVFAFGGAV	9.0	9.0	unscreened	-	1913_17:37884064-37884064 G>A_LERPKTLSPGKNRVVKDVFAFGGAV
14:105413248-105413248 C>T	1.0	1913	MELANOMA	-	-	-	-	AHNAK2	NM_138420,p.G2847E|ENST00000333244,p.G2847E|uc001ypx.2,p.G2747E|uc010axc.1,p.G2847E	retained_intron, protein_coding	uc010axc.1	nonsynonymous SNV	exon7	c.G8540A	p.G2847E	SVDVSELKVEADGSFPSMQGDLKTT	SVDVSELKVEADESFPSMQGDLKTT	6.0	7.0	unscreened	-	1913_14:105413248-105413248 C>T_SVDVSELKVEADESFPSMQGDLKTT
1:186084396-186084396 C>T	1.0	1913	MELANOMA	-	-	-	-	HMCN1	NM_031935,p.P3804L|ENST00000271588,p.P3804L|uc001grq.1,p.P3804L|ENST00000367492,p.P3804L	protein_coding, processed_transcript	uc001grq.1	nonsynonymous SNV	exon75	c.C11411T	p.P3804L	DRRRIDLQVHVPPSIAPGPTNMTVI	DRRRIDLQVHVPLSIAPGPTNMTVI	10.0	8.0	unscreened	-	1913_1:186084396-186084396 C>T_DRRRIDLQVHVPLSIAPGPTNMTVI
10:101995427-101995427 C>T	1.0	1913	MELANOMA	-	-	-	-	CWF19L1	NM_018294,p.G490E|uc001kqq.1,p.G490E|ENST00000370379,p.G205E|uc001kqt.1,p.G194E|uc001kqs.1,p.G242E|uc010qpn.1,p.G353E|ENST00000354105,p.G490E|uc001kqr.1,p.G450E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qpn.1	nonsynonymous SNV	exon10	c.G1058A	p.G353E	FHRIKKNFPLQFGREVLASEAILNV	FHRIKKNFPLQFEREVLASEAILNV	7.0	7.0	unscreened	-	1913_10:101995427-101995427 C>T_FHRIKKNFPLQFEREVLASEAILNV
17:79517513-79517513 G>A	1.0	1913	MELANOMA	-	-	ID=COSM108127;OCCURENCE=1(skin)	-	C17orf70	ENST00000327787,p.P336L|NM_025161,p.P336L|uc002kap.3,p.P185L|ENST00000537152,p.P185L|uc002kaq.3,p.P336L|ENST00000541246,p.P185L|ENST00000544302,p.P185L	protein_coding, nonsense_mediated_decay	uc002kaq.3	nonsynonymous SNV	exon3	c.C1007T	p.P336L	IKASWDESGKLVPELREYCLPGPVL	IKASWDESGKLVLELREYCLPGPVL	8.0	5.0	unscreened	-	1913_17:79517513-79517513 G>A_IKASWDESGKLVLELREYCLPGPVL
12:124811960-124811960 G>A	1.0	1913	MELANOMA	-	-	-	1	NCOR2	ENST00000356219,p.S2400L|uc010tbb.2,p.S2393L|ENST00000404121,p.S1954L|NM_006312,p.S2393L|NM_001206654,p.S2383L|ENST00000405201,p.S2393L|ENST00000429285,p.S2383L|uc021rgc.1,p.S2383L	retained_intron, protein_coding	uc021rgc.1	nonsynonymous SNV	exon46	c.C7148T	p.S2383L	TAADGRSDHTLTSPGGGGKAKVSGR	TAADGRSDHTLTLPGGGGKAKVSGR	10.0	9.0	unscreened	-	1913_12:124811960-124811960 G>A_TAADGRSDHTLTLPGGGGKAKVSGR
17:73815828-73815828 A>C	1.0	1913	MELANOMA	-	-	-	-	UNK	NM_001080419,p.D537A|ENST00000589666,p.D537A|uc021udd.2,p.D537A|ENST00000293218,p.D613A	retained_intron, protein_coding, nonsense_mediated_decay	uc021udd.2	nonsynonymous SNV	exon12	c.A1610C	p.D537A	NEFGVAALEKTFDNSTVPHPGSITI	NEFGVAALEKTFANSTVPHPGSITI	8.0	5.0	unscreened	-	1913_17:73815828-73815828 A>C_NEFGVAALEKTFANSTVPHPGSITI
12:32137076-32137076 C>T	1.0	1913	MELANOMA	-	-	-	-	KIAA1551	uc001rks.3,p.P1063S|ENST00000312561,p.P1063S|NM_018169,p.P1063S	retained_intron, protein_coding, processed_transcript	uc001rks.3	nonsynonymous SNV	exon4	c.C3187T	p.P1063S	LHDQLSELLKEFPYGIEAVNTREGS	LHDQLSELLKEFSYGIEAVNTREGS	7.0	3.0	unscreened	-	1913_12:32137076-32137076 C>T_LHDQLSELLKEFSYGIEAVNTREGS
1:17313321-17313321 G>A	1.0	1913	MELANOMA	-	-	-	-	ATP13A2	uc001bab.2,p.R1067C|ENST00000452699,p.R1067C|uc001baa.2,p.R1072C|NM_022089,p.R1072C|NM_001141973,p.R1067C|ENST00000326735,p.R1072C	retained_intron, protein_coding, processed_transcript	uc001bab.2	nonsynonymous SNV	exon27	c.C3199T	p.R1067C	ILAAAVSKGAPFRRPLYTNVPFLVA	ILAAAVSKGAPFCRPLYTNVPFLVA	9.0	4.0	unscreened	-	1913_1:17313321-17313321 G>A_ILAAAVSKGAPFCRPLYTNVPFLVA
5:158523363-158523363 G>A	1.0	1913	MELANOMA	-	-	-	1	EBF1	uc010jip.3,p.L115F|ENST00000380654,p.L115F|NM_024007,p.L115F|NM_001290360,p.L115F|NM_182708,p.L115F|ENST00000517373,p.L115F|uc003lxl.5,p.L101F|uc011ddx.3,p.L101F|ENST00000313708,p.L115F	retained_intron, protein_coding, processed_transcript	uc011ddx.3	nonsynonymous SNV	exon3	c.C301T	p.L101F	KTNNGIHYRLQLLYSNGIRTEQDFY	KTNNGIHYRLQLFYSNGIRTEQDFY	6.0	8.0	unscreened	-	1913_5:158523363-158523363 G>A_KTNNGIHYRLQLFYSNGIRTEQDFY
4:146823488-146823488 G>A	1.0	1913	MELANOMA	-	-	-	-	ZNF827	NM_178835,p.S308L|ENST00000379448,p.S308L|uc003ikm.3,p.S308L|uc003ikn.3,p.S308L|ENST00000508784,p.S308L	retained_intron, protein_coding, processed_transcript	uc003ikn.3	nonsynonymous SNV	exon2	c.C923T	p.S308L	ARAAGSLLAEKSSLLPEDPLPPPPS	ARAAGSLLAEKSLLLPEDPLPPPPS	6.0	9.0	unscreened	-	1913_4:146823488-146823488 G>A_ARAAGSLLAEKSLLLPEDPLPPPPS
2:152349910-152349910 G>A	1.0	1913	MELANOMA	-	-	-	-	NEB	ENST00000397345,p.P8241L|NM_001164508,p.P8241L|uc021vrd.1,p.P6385L|uc021vrc.1,p.P8241L|ENST00000604864,p.P8241L|ENST00000603639,p.P8241L|ENST00000427231,p.P8241L|NM_001164507,p.P8241L|NM_001271208,p.P8276L|uc021vrb.1,p.P6385L|uc002txu.3,p.P8241L|uc010zcb.2,p.P154L|uc031rpp.1,p.P8276L|ENST00000397336,p.P216L|ENST00000172853,p.P6385L|uc002txq.3,p.P264L|ENST00000509223,p.P154L|uc010zca.2,p.P216L|uc010zbz.2,p.P154L|ENST00000409198,p.P6385L	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon177	c.C24827T	p.P8276L	ENMRKATPTPVTPEMERAKRNQENI	ENMRKATPTPVTLEMERAKRNQENI	5.0	7.0	unscreened	-	1913_2:152349910-152349910 G>A_ENMRKATPTPVTLEMERAKRNQENI
5:79279529-79279529 G>A	1.0	1913	MELANOMA	-	-	-	-	MTX3	NM_001167741,p.S245F|uc010jag.3,p.S306F|uc003kge.4,p.S245F|ENST00000512560,p.S245F|ENST00000512528,p.S306F	protein_coding	uc010jag.3	nonsynonymous SNV	exon9	c.C917T	p.S306F	TLKLTPAEEENNSFQRLSP	TLKLTPAEEENNFFQRLSP	6.0	8.0	unscreened	-	1913_5:79279529-79279529 G>A_TLKLTPAEEENNFFQRLSP
11:62289693-62289693 G>A	1.0	1913	MELANOMA	-	-	-	-	AHNAK	NM_001620,p.P4066S|uc001ntl.3,p.P4066S|ENST00000378024,p.P4066S	protein_coding, processed_transcript	uc001ntl.3	nonsynonymous SNV	exon5	c.C12196T	p.P4066S	PDWHLKMPKVKMPKFSMPGFKGEGP	PDWHLKMPKVKMSKFSMPGFKGEGP	9.0	7.0	unscreened	-	1913_11:62289693-62289693 G>A_PDWHLKMPKVKMSKFSMPGFKGEGP
12:66700271-66700271 C>T	1.0	1913	MELANOMA	-	-	-	-	HELB	ENST00000542394,p.P252S|NM_033647,p.P252S|ENST00000440906,p.P252S|ENST00000247815,p.P252S|ENST00000545134,p.P252S|uc001sti.3,p.P252S	retained_intron, protein_coding, nonsense_mediated_decay	uc001sti.3	nonsynonymous SNV	exon3	c.C754T	p.P252S	MLKEIEEILGTHPWKLGFSKITYRE	MLKEIEEILGTHSWKLGFSKITYRE	3.0	7.0	unscreened	-	1913_12:66700271-66700271 C>T_MLKEIEEILGTHSWKLGFSKITYRE
1:11855225-11855225 A>G	1.0	1913	MELANOMA	-	-	-	-	MTHFR	ENST00000376585,p.Y362H|NM_005957,p.Y321H|uc001atc.2,p.Y321H|uc001atb.1,p.Y344H|ENST00000376592,p.Y321H|uc031plg.1,p.Y76H|ENST00000376583,p.Y362H|ENST00000376590,p.Y321H	protein_coding	uc031plg.1	nonsynonymous SNV	exon2	c.T226C	p.Y76H	LLASGLVPGLHFYTLNREMATTEVL	LLASGLVPGLHFHTLNREMATTEVL	7.0	3.0	unscreened	-	1913_1:11855225-11855225 A>G_LLASGLVPGLHFHTLNREMATTEVL
16:70551549-70551549 G>A	1.0	1913	MELANOMA	-	-	-	-	COG4	ENST00000564415,p.R117C	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000564415	nonsynonymous SNV	exon3	c.C349T	p.R117C	TCNLAENVSSKVRQLDLAKKHSTNL	TCNLAENVSSKVCQLDLAKKHSTNL	9.0	3.0	unscreened	-	1913_16:70551549-70551549 G>A_TCNLAENVSSKVCQLDLAKKHSTNL
16:66974489-66974489 C>T	1.0	1913	MELANOMA	-	-	ID=COSM1378818;OCCURENCE=2(large_intestine)	-	CES2	ENST00000317091,p.S300L|ENST00000417689,p.S300L|NM_003869,p.S300L|uc002eqr.3,p.S300L|uc002eqs.3,p.S143L|NM_198061,p.S300L|uc002eqq.3,p.S300L	retained_intron, protein_coding, nonsense_mediated_decay	uc002eqs.3	nonsynonymous SNV	exon5	c.C428T	p.S143L	IFGESAGGTSVSSLVVSPISQGLFH	IFGESAGGTSVSLLVVSPISQGLFH	8.0	1.0	unscreened	-	1913_16:66974489-66974489 C>T_IFGESAGGTSVSLLVVSPISQGLFH
22:50687114-50687114 C>T	1.0	1913	MELANOMA	-	-	-	-	HDAC10	uc010hav.3,p.G275S|ENST00000216271,p.G295S|NM_001159286,p.G275S|ENST00000349505,p.G275S|NM_032019,p.G295S|uc003bkg.3,p.G295S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hav.3	nonsynonymous SNV	exon9	c.G823A	p.G275S	AHLTQLLQVLAGGRVCAVLEGGYHL	AHLTQLLQVLAGSRVCAVLEGGYHL	9.0	5.0	unscreened	-	1913_22:50687114-50687114 C>T_AHLTQLLQVLAGSRVCAVLEGGYHL
9:137642431-137642431 C>T	1.0	1913	MELANOMA	-	-	-	-	COL5A1	uc004cfe.4,p.P513L|uc031tfl.1,p.P513L|NM_001278074,p.P513L|NM_000093,p.P513L|ENST00000371817,p.P513L	retained_intron, protein_coding, processed_transcript	uc031tfl.1	nonsynonymous SNV	exon12	c.C1538T	p.P513L	PGRPGLPGADGLPGPPGTMLMLPFR	PGRPGLPGADGLLGPPGTMLMLPFR	6.0	3.0	unscreened	-	1913_9:137642431-137642431 C>T_PGRPGLPGADGLLGPPGTMLMLPFR
12:111057671-111057671 C>T	1.0	1913	MELANOMA	-	-	-	-	TCTN1	uc001trp.4,p.P84L|uc010syb.2,p.P84L|NM_001082537,p.P84L|uc001trn.4,p.P84L|ENST00000397655,p.P84L|ENST00000551590,p.P84L|ENST00000480648,p.P84L|ENST00000397656,p.P84L|ENST00000397659,p.P84L|uc009zvs.3,p.P84L|NM_001082538,p.P84L|ENST00000550703,p.P84L|ENST00000471804,p.P84L|NM_024549,p.P84L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010syb.2	nonsynonymous SNV	exon2	c.C251T	p.P84L	TDVAVLCVCDLSPAQCDINCCCDPD	TDVAVLCVCDLSLAQCDINCCCDPD	8.0	6.0	unscreened	-	1913_12:111057671-111057671 C>T_TDVAVLCVCDLSLAQCDINCCCDPD
12:111057671-111057671 C>T	1.0	1913	MELANOMA	-	-	-	-	TCTN1	uc001trm.3,p.P24L|NM_001173976,p.P24L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001trm.3	nonsynonymous SNV	exon3	c.C71T	p.P24L	GSVAVLCVCDLSPAQCDINCCCDPD	GSVAVLCVCDLSLAQCDINCCCDPD	8.0	6.0	unscreened	-	1913_12:111057671-111057671 C>T_GSVAVLCVCDLSLAQCDINCCCDPD
12:111057671-111057671 C>T	1.0	1913	MELANOMA	-	-	-	-	TCTN1	uc001trj.2,p.P28L|uc001tri.3,p.P28L|NM_001173975,p.P28L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001trj.2	nonsynonymous SNV	exon2	c.C83T	p.P28L	SPVAVLCVCDLSPAQCDINCCCDPD	SPVAVLCVCDLSLAQCDINCCCDPD	8.0	6.0	unscreened	-	1913_12:111057671-111057671 C>T_SPVAVLCVCDLSLAQCDINCCCDPD
1:39987158-39987158 C>T	1.0	1913	MELANOMA	-	-	-	-	BMP8A	NM_181809,p.P262S|uc001cdi.3,p.P262S|ENST00000331593,p.P262S	protein_coding	uc001cdi.3	nonsynonymous SNV	exon4	c.C784T	p.P262S	TFFRASPSPIRTPRAVRPLRRRQPK	TFFRASPSPIRTSRAVRPLRRRQPK	7.0	9.0	unscreened	-	1913_1:39987158-39987158 C>T_TFFRASPSPIRTSRAVRPLRRRQPK
17:77081799-77081799 C>T	1.0	1913	MELANOMA	-	-	-	-	ENGASE	uc002jww.4,p.R305W|ENST00000579016,p.R600W|uc002jwv.4,p.R600W|NM_001042573,p.R600W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jww.4	nonsynonymous SNV	exon9	c.C913T	p.R305W	PPGSREEESFTCRLGEIQVVDAASL	PPGSREEESFTCWLGEIQVVDAASL	9.0	5.0	unscreened	-	1913_17:77081799-77081799 C>T_PPGSREEESFTCWLGEIQVVDAASL
11:17143871-17143871 G>A	1.0	1913	MELANOMA	-	-	-	-	PIK3C2A	NM_002645,p.P841S|ENST00000540361,p.P461S|uc010rcw.2,p.P461S|uc001mmq.4,p.P841S|ENST00000265970,p.P841S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010rcw.2	nonsynonymous SNV	exon14	c.C1381T	p.P461S	YVMERIVLQVDFPSPAFDIIYTTPQ	YVMERIVLQVDFSSPAFDIIYTTPQ	6.0	8.0	unscreened	-	1913_11:17143871-17143871 G>A_YVMERIVLQVDFSSPAFDIIYTTPQ
4:138449673-138449673 C>T	1.0	1913	MELANOMA	-	-	-	-	PCDH18	uc011cgz.2,p.G111E|ENST00000510305,p.G111E|ENST00000511115,p.G80E|uc003ihg.4,p.G679E|ENST00000412923,p.G899E|uc003ihf.4,p.G892E|ENST00000507846,p.G679E|NM_001300828,p.G899E|ENST00000344876,p.G900E|NM_019035,p.G900E|uc011cha.2,p.G80E|uc003ihe.4,p.G900E	protein_coding	uc011cha.2	nonsynonymous SNV	exon3	c.G239A	p.G80E	GRDSPIDRLLGEGFSDLFLTDGRIP	GRDSPIDRLLGEEFSDLFLTDGRIP	6.0	9.0	unscreened	-	1913_4:138449673-138449673 C>T_GRDSPIDRLLGEEFSDLFLTDGRIP
22:35661525-35661525 C>T	1.0	1913	MELANOMA	-	-	-	-	HMGXB4	uc003anl.3,p.H382Y|ENST00000420166,p.H273Y|NM_001003681,p.H382Y|ENST00000444518,p.H273Y|uc011amh.1,p.H273Y|ENST00000216106,p.H382Y|uc003ank.3,p.H273Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011amh.1	nonsynonymous SNV	exon5	c.C817T	p.H273Y	GAAAPPLPLPGLHTDGHSEKKKKKE	GAAAPPLPLPGLYTDGHSEKKKKKE	8.0	5.0	unscreened	-	1913_22:35661525-35661525 C>T_GAAAPPLPLPGLYTDGHSEKKKKKE
1:183885633-183885633 C>T	1.0	1913	MELANOMA	-	-	ID=COSM531241;OCCURENCE=1(lung)	-	RGL1	uc001gqm.3,p.S636F|ENST00000536277,p.S599F|ENST00000304685,p.S636F|uc010poi.2,p.S572F|NM_001297671,p.S601F|ENST00000367531,p.S636F|NM_001297669,p.S599F|NM_015149,p.S636F|ENST00000360851,p.S601F|uc001gqo.3,p.S601F|NM_001297672,p.S572F|uc010pog.2,p.S599F|uc010poh.2,p.S599F|NM_001297670,p.S599F|ENST00000539189,p.S572F	protein_coding	uc010poi.2	nonsynonymous SNV	exon15	c.C1715T	p.S572F	SSCSSIHSMDTNSSGMSSLINPLSS	SSCSSIHSMDTNFSGMSSLINPLSS	6.0	4.0	unscreened	-	1913_1:183885633-183885633 C>T_SSCSSIHSMDTNFSGMSSLINPLSS
8:37689000-37689000 C>T	1.0	1913	MELANOMA	-	-	-	-	GPR124	NM_032777,p.S331F|uc010lvy.3,p.S331F|ENST00000315215,p.S331F|ENST00000412232,p.S331F|uc003xkj.3,p.S331F	retained_intron, protein_coding, processed_transcript	uc010lvy.3	nonsynonymous SNV	exon8	c.C992T	p.S331F	GVWASGEWECTVSMAQGNASKKVEI	GVWASGEWECTVFMAQGNASKKVEI	7.0	5.0	unscreened	-	1913_8:37689000-37689000 C>T_GVWASGEWECTVFMAQGNASKKVEI
5:82817076-82817076 G>A	1.0	1913	MELANOMA	-	-	-	-	VCAN	NM_001164098,p.G984E|uc003kii.3,p.G984E|uc010jau.2,p.G984E|ENST00000342785,p.G984E|ENST00000265077,p.G984E|ENST00000512590,p.G936E|NM_004385,p.G984E	retained_intron, protein_coding, processed_transcript	uc010jau.2	nonsynonymous SNV	exon7	c.G2951A	p.G984E	TIPLSVIPKTDWGVLVPSVPSEDEV	TIPLSVIPKTDWEVLVPSVPSEDEV	10.0	3.0	unscreened	-	1913_5:82817076-82817076 G>A_TIPLSVIPKTDWEVLVPSVPSEDEV
11:66006712-66006712 C>T	1.0	1913	MELANOMA	-	-	-	-	PACS1	NM_018026,p.S798F|uc010rou.2,p.S334F|uc001oha.2,p.S798F|ENST00000529757,p.S334F|ENST00000320580,p.S798F	retained_intron, protein_coding, nonsense_mediated_decay	uc010rou.2	nonsynonymous SNV	exon10	c.C1001T	p.S334F	SGLSRDATATPPSSPSMSSALAIVG	SGLSRDATATPPFSPSMSSALAIVG	8.0	3.0	unscreened	-	1913_11:66006712-66006712 C>T_SGLSRDATATPPFSPSMSSALAIVG
10:79572133-79572133 G>A	1.0	1913	MELANOMA	-	-	-	-	DLG5	ENST00000372391,p.P1343L|uc001jzk.3,p.P1343L|NM_004747,p.P1343L|ENST00000372388,p.P1003L|uc001jzj.3,p.P758L|uc001jzi.3,p.P98L|ENST00000424842,p.P304L	protein_coding, processed_transcript	uc001jzk.3	nonsynonymous SNV	exon21	c.C4028T	p.P1343L	NPASLGERRKDRPYVEEPRHVKVQK	NPASLGERRKDRLYVEEPRHVKVQK	7.0	3.0	unscreened	-	1913_10:79572133-79572133 G>A_NPASLGERRKDRLYVEEPRHVKVQK
21:46363696-46363696 C>T	1.0	1913	MELANOMA	-	-	-	-	FAM207A	ENST00000458015,p.S76F|uc002zgm.3,p.S76F|ENST00000397826,p.S76F	protein_coding, processed_transcript	uc002zgm.3	nonsynonymous SNV	exon2	c.C227T	p.S76F	VQKLELDVRSVTSVRRGAEAKTVLP	VQKLELDVRSVTFVRRGAEAKTVLP	8.0	5.0	unscreened	-	1913_21:46363696-46363696 C>T_VQKLELDVRSVTFVRRGAEAKTVLP
1:235295203-235295203 G>A	1.0	1913	MELANOMA	-	-	-	-	RBM34	NM_015014,p.S373L|uc001hwn.3,p.S373L|ENST00000366606,p.S368L|ENST00000408888,p.S373L|ENST00000447801,p.S351L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001hwn.3	nonsynonymous SNV	exon11	c.C1118T	p.S373L	RSVNKEKFKQQNSNPRLKNVSKPKQ	RSVNKEKFKQQNLNPRLKNVSKPKQ	9.0	3.0	unscreened	-	1913_1:235295203-235295203 G>A_RSVNKEKFKQQNLNPRLKNVSKPKQ
2:166771780-166771780 G>A	1.0	1913	MELANOMA	-	-	-	-	TTC21B	NM_024753,p.A690V|uc002udk.3,p.A690V|ENST00000243344,p.A690V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002udk.3	nonsynonymous SNV	exon15	c.C2069T	p.A690V	QNVTAEQPYFIEAREKMADIYLKHR	QNVTAEQPYFIEVREKMADIYLKHR	7.0	5.0	unscreened	-	1913_2:166771780-166771780 G>A_QNVTAEQPYFIEVREKMADIYLKHR
16:2580939-2580939 G>T	1.0	1913	MELANOMA	-	-	-	-	CEMP1	uc002cqr.3,p.Q46K|NM_001048212,p.Q46K|ENST00000382350,p.Q46K|ENST00000567119,p.Q46K	protein_coding	uc002cqr.3	nonsynonymous SNV	exon1	c.C136A	p.Q46K	SPGKTAPLPGPAQAGAGQPLPKGCA	SPGKTAPLPGPAKAGAGQPLPKGCA	8.0	1.0	unscreened	-	1913_16:2580939-2580939 G>T_SPGKTAPLPGPAKAGAGQPLPKGCA
1:154988755-154988755 C>T	1.0	1913	MELANOMA	-	-	-	-	ZBTB7B	uc031ppr.1,p.P405L|NM_001252406,p.P439L|ENST00000292176,p.P405L|uc010peq.3,p.P439L|uc001fgk.4,p.P405L|uc009wpa.3,p.P405L|ENST00000417934,p.P439L|ENST00000368426,p.P405L|ENST00000535420,p.P405L|uc001fgj.4,p.P439L|uc001fgl.4,p.P405L|NM_001256455,p.P405L	protein_coding, processed_transcript	uc031ppr.1	nonsynonymous SNV	exon3	c.C1214T	p.P405L	MRKHTGERPYSCPHCPARFLHSYDL	MRKHTGERPYSCLHCPARFLHSYDL	6.0	8.0	unscreened	-	1913_1:154988755-154988755 C>T_MRKHTGERPYSCLHCPARFLHSYDL
14:74766868-74766882 ACAAAAGGGTCAGGA>-	0.0	1913	MELANOMA	-	-	-	-	ABCD4	ENST00000481935,p.43_48del|ENST00000553486,p.43_48del|ENST00000470637,p.43_48del|ENST00000460308,p.43_48del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000553486	nonframeshift deletion	exon2	c.128_142del	p.43_48del	LFPSWSSQNALMFLTLLCLTLLAEE	LFPSWSSQNALMCLTLLAEEL	9.0	2.0	unscreened	-	1913_14:74766868-74766882 ACAAAAGGGTCAGGA>-_LFPSWSSQNALMCLTLLAEEL
4:68385083-68385083 C>T	1.0	1913	MELANOMA	-	-	-	-	CENPC	uc003hdd.1,p.G157S|NM_001812,p.G157S|ENST00000506882,p.G157S|uc010ihm.1,p.G157S|ENST00000513216,p.G64S|ENST00000273853,p.G157S	retained_intron, protein_coding, nonsense_mediated_decay	uc010ihm.1	nonsynonymous SNV	exon6	c.G469A	p.G157S	HSEADEEFYLSVGSPSVLLDAKTSV	HSEADEEFYLSVSSPSVLLDAKTSV	6.0	9.0	unscreened	-	1913_4:68385083-68385083 C>T_HSEADEEFYLSVSSPSVLLDAKTSV
22:19213891-19213891 G>A	1.0	1913	MELANOMA	-	-	-	1	CLTCL1	uc011agw.1,p.L600F|NM_001835,p.L600F|ENST00000263200,p.L600F|uc021wld.1,p.L600F|uc021wlf.1,p.L600F|uc021wle.1,p.L600F|ENST00000505027,p.L600F|ENST00000353891,p.L600F|uc021wlc.1,p.L600F|NM_007098,p.L600F|ENST00000427926,p.L600F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wlf.1	nonsynonymous SNV	exon12	c.C1798T	p.L600F	NLVHAPQVADAILGNKMFTHYDRAH	NLVHAPQVADAIFGNKMFTHYDRAH	5.0	3.0	unscreened	-	1913_22:19213891-19213891 G>A_NLVHAPQVADAIFGNKMFTHYDRAH
12:6691881-6691881 A>G	1.0	1913	MELANOMA	-	-	-	1	CHD4	uc001qpo.3,p.F1424L|NM_001297553,p.F1417L|ENST00000544484,p.F1449L|ENST00000544040,p.F1417L|NM_001273,p.F1424L|ENST00000309577,p.F1452L|ENST00000357008,p.F1424L|uc001qpn.3,p.F1417L|uc001qpp.3,p.F1449L	retained_intron, protein_coding, processed_transcript	uc001qpp.3	nonsynonymous SNV	exon28	c.T4345C	p.F1449L	EVLGFNARQRKAFLNAIMRYGMPPQ	EVLGFNARQRKALLNAIMRYGMPPQ	10.0	3.0	unscreened	-	1913_12:6691881-6691881 A>G_EVLGFNARQRKALLNAIMRYGMPPQ
1:8418778-8418778 G>A	1.0	1913	MELANOMA	-	-	-	-	RERE	uc001apf.3,p.P1273S|uc001apd.3,p.P719S|ENST00000377464,p.P1005S|ENST00000400908,p.P1273S|ENST00000476556,p.P719S|uc001ape.3,p.P1273S|NM_001042682,p.P719S|NM_012102,p.P1273S|NM_001042681,p.P1273S|ENST00000337907,p.P1273S	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc001apf.3	nonsynonymous SNV	exon20	c.C3817T	p.P1273S	RPHVMSPTNRNHPFYMPLNPTDPLL	RPHVMSPTNRNHSFYMPLNPTDPLL	10.0	1.0	unscreened	-	1913_1:8418778-8418778 G>A_RPHVMSPTNRNHSFYMPLNPTDPLL
4:138452041-138452041 C>T	1.0	1913	MELANOMA	-	-	-	-	PCDH18	uc003ihf.4,p.G394E|NM_019035,p.G401E|NM_001300828,p.G401E|ENST00000507846,p.G181E|uc003ihe.4,p.G401E|ENST00000344876,p.G401E|uc003ihg.4,p.G181E|ENST00000412923,p.G401E	protein_coding	uc003ihg.4	nonsynonymous SNV	exon2	c.G542A	p.G181E	SGLNGEIVCKLHGHGHFKLQKTYEN	SGLNGEIVCKLHEHGHFKLQKTYEN	6.0	9.0	unscreened	-	1913_4:138452041-138452041 C>T_SGLNGEIVCKLHEHGHFKLQKTYEN
3:27462267-27462267 A>C	1.0	1913	MELANOMA	-	-	-	-	SLC4A7	ENST00000457377,p.L351W|ENST00000437266,p.L351W|uc011axa.3,p.L351W|ENST00000428386,p.L346W|ENST00000437179,p.L351W|ENST00000435667,p.L355W|uc003cdv.4,p.L470W|ENST00000440156,p.L466W|ENST00000438530,p.L462W|NM_003615,p.L470W|uc021wun.2,p.L355W|uc011axb.3,p.L466W|ENST00000425128,p.L462W|NM_001258379,p.L351W|ENST00000445684,p.L466W|ENST00000446700,p.L462W|uc011awx.3,p.L466W|uc011aww.3,p.L479W|ENST00000455077,p.L351W|uc003cdw.4,p.L346W|ENST00000428179,p.L366W|uc003cdu.5,p.L351W|NM_001258380,p.L346W|ENST00000295736,p.L470W|uc011awy.3,p.L462W|ENST00000454389,p.L479W	retained_intron, protein_coding, nonsense_mediated_decay	uc021wun.2	nonsynonymous SNV	exon9	c.T1064G	p.L355W	LTEVPVPTRFLFLLLGPAGKAPQYH	LTEVPVPTRFLFWLLGPAGKAPQYH	8.0	9.0	unscreened	-	1913_3:27462267-27462267 A>C_LTEVPVPTRFLFWLLGPAGKAPQYH
11:119002249-119002249 C>T	1.0	1913	MELANOMA	-	-	-	-	HINFP	uc001pvq.3,p.S139F|ENST00000350777,p.S139F|ENST00000527410,p.S139F|NM_198971,p.S139F|NM_001243259,p.S139F|NM_015517,p.S139F|uc001pvp.3,p.S139F|uc021qrj.1,p.S139F	retained_intron, protein_coding, processed_transcript	uc021qrj.1	nonsynonymous SNV	exon4	c.C416T	p.S139F	DHFLCLWEHCENSFDNPEWFYRHVE	DHFLCLWEHCENFFDNPEWFYRHVE	7.0	9.0	unscreened	-	1913_11:119002249-119002249 C>T_DHFLCLWEHCENFFDNPEWFYRHVE
8:104053185-104053185 C>T	1.0	1913	MELANOMA	-	-	-	-	ATP6V1C1	ENST00000518738,p.P41S|uc003ykz.4,p.P41S|ENST00000395862,p.P41S|NM_001695,p.P41S|uc003yla.3,p.P41S	retained_intron, protein_coding	uc003yla.3	nonsynonymous SNV	exon2	c.C121T	p.P41S	NNNLAVTSKFNIPDLKVGTLDVLVG	NNNLAVTSKFNISDLKVGTLDVLVG	9.0	7.0	unscreened	-	1913_8:104053185-104053185 C>T_NNNLAVTSKFNISDLKVGTLDVLVG
5:137902772-137902772 G>A	1.0	1913	MELANOMA	-	-	-	-	HSPA9	uc011cyw.2,p.S197F|uc003ldf.3,p.S266F|ENST00000297185,p.S266F|NM_004134,p.S266F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cyw.2	nonsynonymous SNV	exon8	c.C590T	p.S197F	ILEIQKGVFEVKSTNGDTFLGGEDF	ILEIQKGVFEVKFTNGDTFLGGEDF	10.0	7.0	unscreened	-	1913_5:137902772-137902772 G>A_ILEIQKGVFEVKFTNGDTFLGGEDF
12:77199137-77199137 G>A	1.0	1913	MELANOMA	-	-	-	-	ZDHHC17	ENST00000359019,p.G30S|ENST00000549682,p.G57S|ENST00000426126,p.G80S|ENST00000334822,p.G80S|NM_015336,p.G80S|uc001syk.1,p.G80S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001syk.1	nonsynonymous SNV	exon3	c.G238A	p.G80S	GIYERCRELVEAGYDVRQPDKENVT	GIYERCRELVEASYDVRQPDKENVT	7.0	3.0	unscreened	-	1913_12:77199137-77199137 G>A_GIYERCRELVEASYDVRQPDKENVT
8:41845063-41845063 G>A	1.0	1913	MELANOMA	-	-	-	1	KAT6A	ENST00000396930,p.P207S|uc010lxd.3,p.P207S|uc003xon.4,p.P207S|uc010lxb.3,p.P207S|NM_001099412,p.P207S|NM_006766,p.P207S|uc010lxc.3,p.P207S|NM_001099413,p.P207S|ENST00000485568,p.P207S|ENST00000406337,p.P207S|ENST00000265713,p.P207S	retained_intron, protein_coding	uc010lxd.3	nonsynonymous SNV	exon3	c.C619T	p.P207S	PHEKDKPVAEPIPICSFCLGTKEQN	PHEKDKPVAEPISICSFCLGTKEQN	7.0	5.0	unscreened	-	1913_8:41845063-41845063 G>A_PHEKDKPVAEPISICSFCLGTKEQN
5:10426547-10426547 C>T	1.0	1913	MELANOMA	-	-	-	-	MARCH6	uc011cmu.2,p.R759C|ENST00000449913,p.R759C|ENST00000510792,p.R505C|uc003jet.2,p.R807C|uc011cmv.2,p.R702C|NM_001270661,p.R702C|NM_001270660,p.R759C|uc003jeu.2,p.R505C|ENST00000274140,p.R807C|ENST00000503788,p.R702C|NM_005885,p.R807C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cmv.2	nonsynonymous SNV	exon21	c.C2104T	p.R702C	NGIRNIDLHYIVRKLAAPVISVLLL	NGIRNIDLHYIVCKLAAPVISVLLL	9.0	3.0	unscreened	-	1913_5:10426547-10426547 C>T_NGIRNIDLHYIVCKLAAPVISVLLL
8:81605258-81605258 A>C	1.0	1913	MELANOMA	-	-	-	-	ZNF704	ENST00000327835,p.S102R|NM_001033723,p.S102R|ENST00000519936,p.S102R|uc003yby.2,p.S102R	protein_coding, processed_transcript	uc003yby.2	nonsynonymous SNV	exon3	c.T306G	p.S102R	VLTSLSTSPLVRSPPVRPNESLSGS	VLTSLSTSPLVRRPPVRPNESLSGS	6.0	6.0	unscreened	-	1913_8:81605258-81605258 A>C_VLTSLSTSPLVRRPPVRPNESLSGS
4:435705-435705 T>C	1.0	1913	MELANOMA	-	-	-	-	ZNF721	uc003gaf.5,p.I883V|uc010ibe.4,p.I839V|NM_133474,p.I851V|ENST00000338977,p.I839V|ENST00000511833,p.I851V|uc003gag.4,p.I851V	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ibe.4	nonsynonymous SNV	exon2	c.A2515G	p.I839V	CEECGKAFRQSAILYVHRRIHTGEK	CEECGKAFRQSAVLYVHRRIHTGEK	7.0	9.0	unscreened	-	1913_4:435705-435705 T>C_CEECGKAFRQSAVLYVHRRIHTGEK
16:19127213-19127213 C>T	1.0	1913	MELANOMA	-	-	-	-	ITPRIPL2	uc002dft.3,p.P173L|uc002dfu.4,p.P477L|ENST00000381440,p.P477L|NM_001034841,p.P477L	protein_coding	uc002dfu.4	nonsynonymous SNV	exon1	c.C1430T	p.P477L	VGPLPKALREAAPVDLLAAFDGHAR	VGPLPKALREAALVDLLAAFDGHAR	7.0	8.0	unscreened	-	1913_16:19127213-19127213 C>T_VGPLPKALREAALVDLLAAFDGHAR
5:171318487-171318487 C>T	1.0	1913	MELANOMA	-	-	-	-	FBXW11	ENST00000296933,p.R245Q|NM_012300,p.R258Q|NM_033645,p.R224Q|ENST00000425623,p.R226Q|ENST00000265094,p.R258Q|uc011dey.1,p.R226Q|NM_033644,p.R245Q|uc003mbm.1,p.R258Q|uc003mbn.1,p.R224Q|ENST00000393802,p.R224Q|uc003mbl.1,p.R245Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc011dey.1	nonsynonymous SNV	exon6	c.G677A	p.R226Q	LQYDDEKIISGLRDNSIKIWDKTSL	LQYDDEKIISGLQDNSIKIWDKTSL	9.0	8.0	unscreened	-	1913_5:171318487-171318487 C>T_LQYDDEKIISGLQDNSIKIWDKTSL
X:135092669-135092669 C>T	1.0	1913	MELANOMA	-	-	-	-	SLC9A6	uc004ezk.3,p.S323F|ENST00000370698,p.S291F|NM_001177651,p.S271F|NM_006359,p.S291F|NM_001042537,p.S323F|uc011mvx.2,p.S271F|ENST00000370701,p.S271F|ENST00000370695,p.S323F|uc004ezj.3,p.S291F	protein_coding	uc011mvx.2	nonsynonymous SNV	exon8	c.C812T	p.S271F	NSHTFDVTAMFKSIGIFLGIFSGSF	NSHTFDVTAMFKFIGIFLGIFSGSF	6.0	9.0	unscreened	-	1913_X:135092669-135092669 C>T_NSHTFDVTAMFKFIGIFLGIFSGSF
19:11221366-11221366 C>T	1.0	1913	MELANOMA	-	-	-	-	LDLR	uc010xlo.2,p.H159Y|ENST00000558013,p.H327Y|ENST00000558518,p.H327Y|ENST00000557933,p.H327Y|ENST00000535915,p.H286Y|NM_001195798,p.H327Y|uc021upd.1,p.H64Y|NM_001195803,p.H200Y|uc002mqk.4,p.H327Y|uc010xln.2,p.H200Y|NM_001195800,p.H159Y|ENST00000545707,p.H200Y|NM_000527,p.H327Y|ENST00000455727,p.H159Y|uc010xlm.2,p.H180Y|uc010xll.2,p.H286Y|uc010xlk.2,p.H327Y|NM_001195799,p.H286Y|uc021upc.1,p.H206Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021upd.1	nonsynonymous SNV	exon7	c.C190T	p.H64Y	TNECLDNNGGCSHVCNDLKIGYECL	TNECLDNNGGCSYVCNDLKIGYECL	8.0	2.0	unscreened	-	1913_19:11221366-11221366 C>T_TNECLDNNGGCSYVCNDLKIGYECL
5:145176093-145176093 C>A	1.0	1913	MELANOMA	-	-	-	-	PRELID2	uc003lnp.1,p.R141I|NM_205846,p.R129I|uc003lnr.1,p.R129I|ENST00000334744,p.R141I|ENST00000511435,p.R129I|ENST00000505416,p.R129I|ENST00000394450,p.R100I|ENST00000358004,p.R129I|NM_182960,p.R141I|uc003lnq.1,p.R129I|NM_138492,p.R100I|uc003lno.1,p.R100I	retained_intron, protein_coding, processed_transcript	uc003lnr.1	nonsynonymous SNV	exon5	c.G386T	p.R129I	SMENPNWTEFIQRGRISITGVGFLN	SMENPNWTEFIQIGRISITGVGFLN	6.0	3.0	unscreened	-	1913_5:145176093-145176093 C>A_SMENPNWTEFIQIGRISITGVGFLN
22:32887092-32887092 A>G	1.0	1913	MELANOMA	-	-	-	-	FBXO7	NM_001257990,p.I183M|ENST00000397426,p.I183M|uc003amt.3,p.I218M|NM_012179,p.I297M|uc003amq.3,p.I297M|ENST00000266087,p.I297M|ENST00000382058,p.I218M|NM_001033024,p.I218M|uc003amu.3,p.I183M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003amu.3	nonsynonymous SNV	exon6	c.A549G	p.I183M	ICKEKLGENVANIYKDLQKLSRLFK	ICKEKLGENVANMYKDLQKLSRLFK	10.0	3.0	unscreened	-	1913_22:32887092-32887092 A>G_ICKEKLGENVANMYKDLQKLSRLFK
1:32207813-32207813 C>T	1.0	1913	MELANOMA	-	-	-	-	BAI2	uc001btq.1,p.G353S|ENST00000420125,p.G358S|ENST00000398542,p.G353S	retained_intron, protein_coding, processed_transcript	uc001btq.1	nonsynonymous SNV	exon4	c.G1057A	p.G353S	RPCNNSATCPVEGQWLEWGPWGPCS	RPCNNSATCPVESQWLEWGPWGPCS	8.0	7.0	unscreened	-	1913_1:32207813-32207813 C>T_RPCNNSATCPVESQWLEWGPWGPCS
17:48597044-48597044 G>A	1.0	1913	MELANOMA	-	-	-	-	MYCBPAP	uc010wmr.2,p.G314E|ENST00000323776,p.G314E|ENST00000436259,p.G277E|NM_032133,p.G314E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wmr.2	nonsynonymous SNV	exon7	c.G941A	p.G314E	ENSGFWSRLEYLGDEMTGLVMTKTK	ENSGFWSRLEYLEDEMTGLVMTKTK	6.0	4.0	unscreened	-	1913_17:48597044-48597044 G>A_ENSGFWSRLEYLEDEMTGLVMTKTK
16:68598306-68598306 C>T	1.0	1913	MELANOMA	-	-	ID=COSM1172348;OCCURENCE=1(oesophagus)	-	ZFP90	ENST00000570495,p.S539L|ENST00000398253,p.S539L|uc010cff.3,p.S539L|uc002ewd.3,p.S539L|NM_133458,p.S539L|ENST00000563169,p.S539L|uc002ewe.3,p.S539L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cff.3	nonsynonymous SNV	exon5	c.C1616T	p.S539L	CNECGEAFSRRSSLTQHERTHTGEK	CNECGEAFSRRSLLTQHERTHTGEK	8.0	2.0	unscreened	-	1913_16:68598306-68598306 C>T_CNECGEAFSRRSLLTQHERTHTGEK
15:62948196-62948196 G>A	1.0	1913	MELANOMA	-	-	ID=COSM1158194;OCCURENCE=2(pancreas)	-	TLN2	uc002alb.4,p.E191K|ENST00000561311,p.E191K|ENST00000306829,p.E191K|NM_015059,p.E191K	retained_intron, protein_coding, processed_transcript	uc002alb.4	nonsynonymous SNV	exon5	c.G571A	p.E191K	SRTFREQGVDENETLLLRRKFFYSD	SRTFREQGVDENKTLLLRRKFFYSD	7.0	2.0	unscreened	-	1913_15:62948196-62948196 G>A_SRTFREQGVDENKTLLLRRKFFYSD
20:25273047-25273047 C>T	1.0	1913	MELANOMA	-	-	-	-	PYGB	ENST00000216962,p.P659S|uc002wup.3,p.P659S|NM_002862,p.P659S	protein_coding, processed_transcript	uc002wup.3	nonsynonymous SNV	exon17	c.C1975T	p.P659S	ENYRVSLAEKVIPAADLSQQISTAG	ENYRVSLAEKVISAADLSQQISTAG	10.0	6.0	unscreened	-	1913_20:25273047-25273047 C>T_ENYRVSLAEKVISAADLSQQISTAG
X:92964429-92964429 G>A	1.0	1913	MELANOMA	-	-	ID=COSM3845573;OCCURENCE=1(breast)	-	FAM133A	uc022bzv.1,p.R4Q|NM_001171111,p.R4Q|uc022bzu.1,p.R4Q|uc022bzx.1,p.R4Q|uc022bzw.1,p.R4Q|NM_173698,p.R4Q|NM_001171110,p.R4Q|NM_001171109,p.R4Q|ENST00000355813,p.R4Q|uc004efr.2,p.R4Q|ENST00000322139,p.R4Q|ENST00000538690,p.R4Q|ENST00000332647,p.R4Q	protein_coding	uc022bzx.1	nonsynonymous SNV	exon1	c.G11A	p.R4Q	MGKRDNRVAYMNPIAM	MGKQDNRVAYMNPIAM	9.0	9.0	unscreened	-	1913_X:92964429-92964429 G>A_MGKQDNRVAYMNPIAM
19:10426554-10426554 C>T	1.0	1913	MELANOMA	-	-	-	-	FDX1L	ENST00000452032,p.G40E|ENST00000393708,p.G40E|NM_001031734,p.G43E|ENST00000541276,p.G43E|uc002mny.1,p.G40E	retained_intron, protein_coding, processed_transcript	uc002mny.1	nonsynonymous SNV	exon1	c.G119A	p.G40E	GGTSGSGEGVALGTTRKFQATGSRP	GGTSGSGEGVALETTRKFQATGSRP	8.0	1.0	unscreened	-	1913_19:10426554-10426554 C>T_GGTSGSGEGVALETTRKFQATGSRP
17:47788804-47788804 G>A	1.0	1913	MELANOMA	-	-	-	-	FAM117A	uc010wlz.2,p.P120L|ENST00000513602,p.P120L|uc002ipk.3,p.P392L|ENST00000240364,p.P392L|NM_030802,p.P392L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wlz.2	nonsynonymous SNV	exon8	c.C359T	p.P120L	AFCPVNLMKPLFPGMGFIFRNCPSN	AFCPVNLMKPLFLGMGFIFRNCPSN	5.0	5.0	unscreened	-	1913_17:47788804-47788804 G>A_AFCPVNLMKPLFLGMGFIFRNCPSN
6:56515818-56515818 G>T	1.0	1913	MELANOMA	-	-	-	-	DST	ENST00000370769,p.S236Y|ENST00000421834,p.S236Y|NM_001144769,p.S414Y|uc021zay.2,p.S276Y|NM_001144770,p.S276Y|uc011dxl.1,p.S265Y|ENST00000370754,p.S414Y|uc003pde.2,p.S352Y|ENST00000370788,p.S236Y|ENST00000520645,p.S276Y|uc021zaz.2,p.S236Y|ENST00000312431,p.S236Y|ENST00000449297,p.S414Y|NM_183380,p.S236Y|uc021zba.2,p.S414Y|ENST00000361203,p.S236Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zba.2	nonsynonymous SNV	exon11	c.C1241A	p.S414Y	VIRLLDPEDVDVSSPDEKSVITYVS	VIRLLDPEDVDVYSPDEKSVITYVS	10.0	9.0	unscreened	-	1913_6:56515818-56515818 G>T_VIRLLDPEDVDVYSPDEKSVITYVS
7:44805789-44805789 T>G	1.0	1913	MELANOMA	-	-	-	-	ZMIZ2	uc003tlu.3,p.F38V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003tlu.3	nonsynonymous SNV	exon1	c.T112G	p.F38V	PLTGSSFLGPGTFPESFPPTTPSTP	PLTGSSFLGPGTVPESFPPTTPSTP	9.0	7.0	unscreened	-	1913_7:44805789-44805789 T>G_PLTGSSFLGPGTVPESFPPTTPSTP
7:44805789-44805789 T>G	1.0	1913	MELANOMA	-	-	-	-	ZMIZ2	NM_001300959,p.F699V|ENST00000309315,p.F757V|NM_031449,p.F757V|ENST00000433667,p.F725V|ENST00000265346,p.F731V|uc003tlt.3,p.F380V|ENST00000413916,p.F699V|uc003tlr.3,p.F757V|uc010kyj.3,p.F279V|uc003tlq.3,p.F699V|NM_174929,p.F731V|ENST00000441627,p.F757V|uc003tls.3,p.F731V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kyj.3	nonsynonymous SNV	exon8	c.T835G	p.F279V	PGQGSSFLGPGTFPESFPPTTPSTP	PGQGSSFLGPGTVPESFPPTTPSTP	9.0	7.0	unscreened	-	1913_7:44805789-44805789 T>G_PGQGSSFLGPGTVPESFPPTTPSTP
1:8924134-8924134 G>A	1.0	1913	MELANOMA	-	-	-	-	ENO1	NM_001201483,p.P202S|uc001api.2,p.P202S|NM_001428,p.P295S|ENST00000234590,p.P295S|uc001apj.2,p.P295S|uc009vml.2,p.P295S	retained_intron, protein_coding, nonsense_mediated_decay	uc009vml.2	nonsynonymous SNV	exon9	c.C883T	p.P295S	FIKDYPVVSIEDPFDQDDWGAWQKF	FIKDYPVVSIEDSFDQDDWGAWQKF	10.0	2.0	unscreened	-	1913_1:8924134-8924134 G>A_FIKDYPVVSIEDSFDQDDWGAWQKF
1:100206374-100206374 G>A	1.0	1913	MELANOMA	-	-	ID=COSM1497608;OCCURENCE=1(lung)	-	FRRS1	ENST00000414213,p.P184L|uc001dsh.1,p.P184L|ENST00000287474,p.P184L|NM_001013660,p.P184L	retained_intron, protein_coding, processed_transcript	uc001dsh.1	nonsynonymous SNV	exon6	c.C551T	p.P184L	TPKATVVPLPTLPPVSHLTKPFSAS	TPKATVVPLPTLLPVSHLTKPFSAS	3.0	9.0	unscreened	-	1913_1:100206374-100206374 G>A_TPKATVVPLPTLLPVSHLTKPFSAS
7:100402849-100402849 C>T	1.0	1913	MELANOMA	-	-	-	-	EPHB4	ENST00000358173,p.E925K|uc003uwn.1,p.E925K|NM_004444,p.E925K|uc003uwm.1,p.E832K	retained_intron, protein_coding, processed_transcript	uc003uwn.1	nonsynonymous SNV	exon16	c.G2773A	p.E925K	GEWLRAIKMGRYEESFAAAGFGSFE	GEWLRAIKMGRYKESFAAAGFGSFE	9.0	6.0	unscreened	-	1913_7:100402849-100402849 C>T_GEWLRAIKMGRYKESFAAAGFGSFE
1:232581471-232581471 G>A	1.0	1913	MELANOMA	-	-	-	-	SIPA1L2	ENST00000308942,p.P127S|ENST00000366630,p.P1053S|uc001hvg.3,p.P1053S|ENST00000262861,p.P1053S|uc001hvf.3,p.P127S|NM_020808,p.P1053S	protein_coding, processed_transcript	uc001hvg.3	nonsynonymous SNV	exon9	c.C3157T	p.P1053S	PMVEYKLDSEGTPCEYKTPFRRNTT	PMVEYKLDSEGTSCEYKTPFRRNTT	8.0	3.0	unscreened	-	1913_1:232581471-232581471 G>A_PMVEYKLDSEGTSCEYKTPFRRNTT
17:40359614-40359614 G>A	1.0	1913	MELANOMA	-	-	-	1	STAT5B	uc002hzh.3,p.S680F|ENST00000293328,p.S680F|NM_012448,p.S680F	retained_intron, protein_coding	uc002hzh.3	nonsynonymous SNV	exon16	c.C2039T	p.S680F	YVFPDRPKDEVYSKYYTPVPCESAT	YVFPDRPKDEVYFKYYTPVPCESAT	6.0	9.0	unscreened	-	1913_17:40359614-40359614 G>A_YVFPDRPKDEVYFKYYTPVPCESAT
22:31998595-31998595 C>T	1.0	1913	MELANOMA	-	-	-	-	SFI1	ENST00000524296,p.H380Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000524296	nonsynonymous SNV	exon11	c.C1138T	p.H380Y	SASRKPPGRENGHPSRRATASV	SASRKPPGRENGYPSRRATASV	8.0	5.0	unscreened	-	1913_22:31998595-31998595 C>T_SASRKPPGRENGYPSRRATASV
7:96653833-96653833 G>T	1.0	1913	MELANOMA	-	-	-	-	DLX5	ENST00000486603,p.P35T|NM_005221,p.P35T|ENST00000222598,p.P35T|uc011kim.1,p.P35T|uc003uon.3,p.P35T	retained_intron, protein_coding, processed_transcript	uc011kim.1	nonsynonymous SNV	exon1	c.C103A	p.P35T	TSAAMHHPSQESPTLPESSATDSDY	TSAAMHHPSQESTTLPESSATDSDY	6.0	6.0	unscreened	-	1913_7:96653833-96653833 G>T_TSAAMHHPSQESTTLPESSATDSDY
9:75775278-75775278 C>T	1.0	1913	MELANOMA	-	-	-	-	ANXA1	uc004ajg.1,p.R124C|uc004ajf.1,p.R124C|ENST00000376911,p.R124C|ENST00000257497,p.R124C|ENST00000456643,p.R135C|NM_000700,p.R124C	protein_coding, processed_transcript	uc004ajg.1	nonsynonymous SNV	exon4	c.C370T	p.R124C	LKTPAQFDADELRAAMKGLGTDEDT	LKTPAQFDADELCAAMKGLGTDEDT	10.0	3.0	unscreened	-	1913_9:75775278-75775278 C>T_LKTPAQFDADELCAAMKGLGTDEDT
8:30464637-30464637 G>A	1.0	1913	MELANOMA	-	-	ID=COSM1673830;OCCURENCE=1(large_intestine)	-	GTF2E2	uc003xig.3,p.R194C|NM_002095,p.R194C|ENST00000355904,p.R194C	protein_coding, processed_transcript, nonsense_mediated_decay	uc003xig.3	nonsynonymous SNV	exon6	c.C580T	p.R194C	VKALGDQILFVNRPDKKKILFFNDK	VKALGDQILFVNCPDKKKILFFNDK	9.0	5.0	unscreened	-	1913_8:30464637-30464637 G>A_VKALGDQILFVNCPDKKKILFFNDK
13:103703668-103703668 G>A	0.0	1913	MELANOMA	-	-	-	-	SLC10A2	ENST00000245312,p.P234S|uc001vpy.4,p.P234S|NM_000452,p.P234S	protein_coding	uc001vpy.4	nonsynonymous SNV	exon4	c.C700T	p.P234S	IAPKLWIIGTIFPVAGYSLGFLLAR	IAPKLWIIGTIFSVAGYSLGFLLAR	1.0	9.0	unscreened	-	1913_13:103703668-103703668 G>A_IAPKLWIIGTIFSVAGYSLGFLLAR
8:100479653-100479653 C>T	0.0	1913	MELANOMA	-	-	-	-	VPS13B	NM_017890,p.P1153S|ENST00000395996,p.P1153S|ENST00000357162,p.P1153S|uc003yiw.4,p.P1153S|ENST00000358544,p.P1153S|ENST00000496144,p.P1153S|uc003yiu.1,p.P1153S|uc003yiv.4,p.P1153S|uc003yix.1,p.P623S|NM_152564,p.P1153S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yix.1	nonsynonymous SNV	exon13	c.C1867T	p.P623S	IPRPILEEGDAFPWTISLHNFSIYT	IPRPILEEGDAFSWTISLHNFSIYT	7.0	5.0	unscreened	-	1913_8:100479653-100479653 C>T_IPRPILEEGDAFSWTISLHNFSIYT
1:231061326-231061326 G>A	1.0	1913	MELANOMA	-	-	ID=COSM1689957;OCCURENCE=1(skin)	-	TTC13	ENST00000366661,p.R509C|uc001huf.4,p.R509C|uc001hug.4,p.R456C|NM_024525,p.R509C|ENST00000366662,p.R456C|NM_001122835,p.R456C|uc009xfk.2,p.R399C|ENST00000414259,p.R456C	retained_intron, protein_coding, nonsense_mediated_decay	uc009xfk.2	nonsynonymous SNV	exon9	c.C1195T	p.R399C	KPEVQELICVADRLGSLMQYETPGF	KPEVQELICVADCLGSLMQYETPGF	8.0	2.0	unscreened	-	1913_1:231061326-231061326 G>A_KPEVQELICVADCLGSLMQYETPGF
1:1635294-1635294 G>A	1.0	1913	MELANOMA	-	-	ID=COSM256594,COSM256593;OCCURENCE=1(large_intestine)	-	CDK11A	uc009vkp.3,p.S244L|uc009vkr.3,p.S617L|uc009vks.3,p.S627L|ENST00000357760,p.S626L|ENST00000356200,p.S593L|NM_024011,p.S627L|ENST00000378638,p.S593L|ENST00000378633,p.S630L|NM_033529,p.S617L|uc001ahj.4,p.S134L|ENST00000358779,p.S617L|ENST00000404249,p.S627L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009vks.3	nonsynonymous SNV	exon17	c.C1880T	p.S627L	ELLTQKPLFPGNSEIDQINKVFKEL	ELLTQKPLFPGNLEIDQINKVFKEL	10.0	1.0	unscreened	-	1913_1:1635294-1635294 G>A_ELLTQKPLFPGNLEIDQINKVFKEL
3:156139412-156139412 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1693668,COSM1693670,COSM1693669;OCCURENCE=1(skin)	-	KCNAB1	ENST00000472028,p.G13R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000472028	nonsynonymous SNV	exon3	c.G37A	p.G13R	MWLSSKAMLRNLGKSGLRVSCLGLG	MWLSSKAMLRNLRKSGLRVSCLGLG	8.0	7.0	unscreened	-	1913_3:156139412-156139412 G>A_MWLSSKAMLRNLRKSGLRVSCLGLG
5:131822745-131822745 G>A	1.0	1913	MELANOMA	-	-	-	-	IRF1	NM_002198,p.P89S|ENST00000458069,p.P89S|uc003kxb.2,p.P89S|uc003kxa.2,p.P89S|ENST00000405885,p.P89S|uc010jdt.2,p.P89S|ENST00000476613,p.P89S|ENST00000437654,p.P89S|ENST00000245414,p.P89S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jdt.2	nonsynonymous SNV	exon3	c.C265T	p.P89S	WKANFRCAMNSLPDIEEVKDQSRNK	WKANFRCAMNSLSDIEEVKDQSRNK	7.0	8.0	unscreened	-	1913_5:131822745-131822745 G>A_WKANFRCAMNSLSDIEEVKDQSRNK
17:80684749-80684749 C>T	1.0	1913	MELANOMA	-	-	-	-	FN3KRP	ENST00000535965,p.P161L|uc010wvr.2,p.P161L|ENST00000269373,p.P211L|uc002kfu.3,p.P211L|NM_024619,p.P211L|ENST00000573158,p.P35L	retained_intron, protein_coding, nonsense_mediated_decay	uc010wvr.2	nonsynonymous SNV	exon7	c.C482T	p.P161L	KIPDLFRDLEIIPALLHGDLWGGNV	KIPDLFRDLEIILALLHGDLWGGNV	9.0	5.0	unscreened	-	1913_17:80684749-80684749 C>T_KIPDLFRDLEIILALLHGDLWGGNV
2:74701701-74701701 G>A	1.0	1913	MELANOMA	-	-	-	-	CCDC142	ENST00000290418,p.S735F|ENST00000393965,p.S742F|uc002slq.3,p.S735F|NM_032779,p.S735F|uc002slr.3,p.S742F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002slr.3	nonsynonymous SNV	exon9	c.C2225T	p.S742F	QHQRPRWHLPFFSCLGTSPES	QHQRPRWHLPFFFCLGTSPES	9.0	4.0	unscreened	-	1913_2:74701701-74701701 G>A_QHQRPRWHLPFFFCLGTSPES
2:70033539-70033539 C>T	1.0	1913	MELANOMA	-	-	-	-	ANXA4	NM_001153,p.S72L|uc002sfr.4,p.S72L|ENST00000394295,p.S72L	retained_intron, protein_coding, processed_transcript	uc002sfr.4	nonsynonymous SNV	exon5	c.C215T	p.S72L	STIGRDLIDDLKSELSGNFEQVIVG	STIGRDLIDDLKLELSGNFEQVIVG	9.0	7.0	unscreened	-	1913_2:70033539-70033539 C>T_STIGRDLIDDLKLELSGNFEQVIVG
19:44934400-44934400 C>T	1.0	1913	MELANOMA	-	-	-	-	ZNF229	NM_001278510,p.G180R|uc010ejl.1,p.G180R|NM_014518,p.G186R|ENST00000588931,p.G186R|ENST00000291187,p.G180R|uc002oze.1,p.G186R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ejl.1	nonsynonymous SNV	exon6	c.G538A	p.G180R	PAWRAIRPIPIQGSWAKAFVNQLGD	PAWRAIRPIPIQRSWAKAFVNQLGD	5.0	3.0	unscreened	-	1913_19:44934400-44934400 C>T_PAWRAIRPIPIQRSWAKAFVNQLGD
3:124485112-124485112 G>A	1.0	1913	MELANOMA	-	-	-	-	ITGB5	uc003eho.3,p.P700S|ENST00000296181,p.P700S|NM_002213,p.P700S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003eho.3	nonsynonymous SNV	exon13	c.C2098T	p.P700S	KDCVMMFTYVELPSGKSNLTVLREP	KDCVMMFTYVELSSGKSNLTVLREP	9.0	9.0	unscreened	-	1913_3:124485112-124485112 G>A_KDCVMMFTYVELSSGKSNLTVLREP
2:203682157-203682157 G>A	1.0	1913	MELANOMA	-	-	-	-	ICA1L	NM_001288623,p.S223L|ENST00000358299,p.S223L|ENST00000438804,p.S223L|uc002uzh.1,p.S223L|uc002uzi.1,p.S223L|ENST00000392237,p.S223L|NM_138468,p.S223L|NM_001288622,p.S223L	retained_intron, protein_coding, nonsense_mediated_decay	uc002uzi.1	nonsynonymous SNV	exon6	c.C668T	p.S223L	LLGASRCNMLSHSLTTYQRTLLGFW	LLGASRCNMLSHLLTTYQRTLLGFW	5.0	6.0	unscreened	-	1913_2:203682157-203682157 G>A_LLGASRCNMLSHLLTTYQRTLLGFW
1:205306537-205306537 G>A	1.0	1913	MELANOMA	-	-	-	-	KLHDC8A	uc001hcf.2,p.S348F|NM_018203,p.S348F|uc031prw.1,p.S348F|NM_001271865,p.S348F|ENST00000539253,p.S348F|ENST00000367155,p.S348F|uc010prg.2,p.S214F|NM_001271863,p.S348F|ENST00000367156,p.S348F|uc001hcg.2,p.S348F|NM_001271864,p.S348F|ENST00000537168,p.S235F|uc031prx.1,p.S348F|ENST00000460687,p.S214F	protein_coding, processed_transcript	uc031prx.1	nonsynonymous SNV	exon7	c.C1043T	p.S348F	QGLSDAVEALCVSDS	QGLSDAVEALCVFDS	4.0	2.0	unscreened	-	1913_1:205306537-205306537 G>A_QGLSDAVEALCVFDS
7:100279498-100279498 G>A	1.0	1913	MELANOMA	-	-	-	-	GIGYF1	uc003uwg.1,p.P1015L|ENST00000275732,p.P1015L|NM_022574,p.P1015L	retained_intron, protein_coding, processed_transcript	uc003uwg.1	nonsynonymous SNV	exon23	c.C3044T	p.P1015L	KAKRRALMLHSDPSILGYSLHGSSG	KAKRRALMLHSDLSILGYSLHGSSG	8.0	4.0	unscreened	-	1913_7:100279498-100279498 G>A_KAKRRALMLHSDLSILGYSLHGSSG
14:105413249-105413249 C>T	1.0	1913	MELANOMA	-	-	-	-	AHNAK2	uc010axc.1,p.G2847R|ENST00000333244,p.G2847R|uc001ypx.2,p.G2747R|NM_138420,p.G2847R	retained_intron, protein_coding	uc010axc.1	nonsynonymous SNV	exon7	c.G8539A	p.G2847R	SVDVSELKVEADGSFPSMQGDLKTT	SVDVSELKVEADRSFPSMQGDLKTT	6.0	7.0	unscreened	-	1913_14:105413249-105413249 C>T_SVDVSELKVEADRSFPSMQGDLKTT
8:118541040-118541040 C>T	1.0	1913	MELANOMA	-	-	-	-	MED30	NM_001282986,p.P110S|uc011lib.2,p.P110S|ENST00000522839,p.P110S	retained_intron, protein_coding	uc011lib.2	nonsynonymous SNV	exon2	c.C328T	p.P110S	KCNENCGGMDPIPVEKLKQKNQQLK	KCNENCGGMDPISVEKLKQKNQQLK	8.0	4.0	unscreened	-	1913_8:118541040-118541040 C>T_KCNENCGGMDPISVEKLKQKNQQLK
X:21871583-21871583 T>G	1.0	1913	MELANOMA	-	-	-	-	MBTPS2	uc004dae.3,p.L211R|ENST00000379484,p.L211R|uc004dab.2,p.L211R|NM_015884,p.L211R|ENST00000365779,p.L211R	protein_coding, processed_transcript	uc004dae.3	nonsynonymous SNV	exon5	c.T632G	p.L211R	GAFVDLFTTHLQLISPVQQLRIFCA	GAFVDLFTTHLQRISPVQQLRIFCA	8.0	9.0	unscreened	-	1913_X:21871583-21871583 T>G_GAFVDLFTTHLQRISPVQQLRIFCA
3:134078247-134078247 G>A	1.0	1913	MELANOMA	-	-	-	-	AMOTL2	uc003eqg.1,p.S661F|uc003eqe.1,p.S286F|ENST00000514516,p.S719F|uc003eqf.2,p.S719F|NM_001278683,p.S719F|ENST00000513145,p.S659F|ENST00000249883,p.S661F|uc003eqh.1,p.S659F|ENST00000422605,p.S661F|NM_016201,p.S661F|NM_001278685,p.S659F	retained_intron, protein_coding, processed_transcript	uc003eqh.1	nonsynonymous SNV	exon8	c.C1976T	p.S659F	RSRRDPGKAIQGSLRPAKSVPSVFA	RSRRDPGKAIQGFLRPAKSVPSVFA	8.0	1.0	unscreened	-	1913_3:134078247-134078247 G>A_RSRRDPGKAIQGFLRPAKSVPSVFA
10:121541212-121541212 G>A	1.0	1913	MELANOMA	-	-	-	-	INPP5F	ENST00000369083,p.E82K|NM_014937,p.E82K|NM_001243195,p.E82K|uc001leo.3,p.E82K|ENST00000361976,p.E82K|uc001len.4,p.E82K	protein_coding, processed_transcript	uc001leo.3	nonsynonymous SNV	exon3	c.G244A	p.E82K	QKALVGKLPGDHEVCKVTKIAVLSL	QKALVGKLPGDHKVCKVTKIAVLSL	10.0	2.0	unscreened	-	1913_10:121541212-121541212 G>A_QKALVGKLPGDHKVCKVTKIAVLSL
10:134121174-134121174 G>A	1.0	1913	MELANOMA	-	-	-	-	STK32C	NM_173575,p.P55L|ENST00000298630,p.P55L|uc001lle.1,p.P55L	protein_coding, processed_transcript, nonsense_mediated_decay	uc001lle.1	nonsynonymous SNV	exon1	c.C164T	p.P55L	PRARDSGDVRSQPRPLFQWSKWKKR	PRARDSGDVRSQLRPLFQWSKWKKR	7.0	6.0	unscreened	-	1913_10:134121174-134121174 G>A_PRARDSGDVRSQLRPLFQWSKWKKR
6:138199958-138199958 C>T	1.0	1913	MELANOMA	-	-	-	1	TNFAIP3	uc021zfv.1,p.S87L|uc003qhr.4,p.S459L|NM_006290,p.S459L|NM_001270508,p.S459L|uc031spv.1,p.S459L|uc031spw.1,p.S459L|NM_001270507,p.S459L|ENST00000237289,p.S459L|uc003qhs.4,p.S459L	protein_coding, processed_transcript	uc031spw.1	nonsynonymous SNV	exon7	c.C1376T	p.S459L	AWNPEESTGGPHSAPPTAPSPFLFS	AWNPEESTGGPHLAPPTAPSPFLFS	5.0	8.0	unscreened	-	1913_6:138199958-138199958 C>T_AWNPEESTGGPHLAPPTAPSPFLFS
19:11363613-11363613 C>T	1.0	1913	MELANOMA	0.0005	-	-	-	DOCK6	ENST00000294618,p.E52K|uc002mqs.5,p.E52K|NM_020812,p.E52K	retained_intron, protein_coding, processed_transcript	uc002mqs.5	nonsynonymous SNV	exon3	c.G154A	p.E52K	SSSLGVPLTEVVEPLDFEDVLLSRP	SSSLGVPLTEVVKPLDFEDVLLSRP	6.0	9.0	unscreened	-	1913_19:11363613-11363613 C>T_SSSLGVPLTEVVKPLDFEDVLLSRP
5:171326951-171326951 G>A	1.0	1913	MELANOMA	-	-	-	-	FBXW11	ENST00000265094,p.P176L|ENST00000425623,p.P144L|ENST00000393802,p.P142L|uc011dey.1,p.P144L|NM_033644,p.P163L|NM_012300,p.P176L|NM_033645,p.P142L|uc003mbm.1,p.P176L|uc003mbl.1,p.P163L|uc003mbn.1,p.P142L|ENST00000296933,p.P163L	protein_coding, processed_transcript, nonsense_mediated_decay	uc011dey.1	nonsynonymous SNV	exon4	c.C431T	p.P144L	WKKLIERMVRTDPLWKGLSERRGWD	WKKLIERMVRTDLLWKGLSERRGWD	9.0	3.0	unscreened	-	1913_5:171326951-171326951 G>A_WKKLIERMVRTDLLWKGLSERRGWD
1:233296091-233296091 G>A	1.0	1913	MELANOMA	-	-	-	-	PCNXL2	ENST00000258229,p.P1152L|NM_014801,p.P1152L|ENST00000488780,p.P285L|uc001hvl.2,p.P1152L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001hvl.2	nonsynonymous SNV	exon19	c.C3455T	p.P1152L	THYVLPQLRKHHPWMWISHPILKNK	THYVLPQLRKHHLWMWISHPILKNK	5.0	9.0	unscreened	-	1913_1:233296091-233296091 G>A_THYVLPQLRKHHLWMWISHPILKNK
X:48672962-48672962 C>G	1.0	1913	MELANOMA	-	-	-	-	HDAC6	uc004dkt.1,p.P308A|ENST00000376619,p.P308A|uc011mmk.1,p.P289A|ENST00000413163,p.P253A|uc011mmj.1,p.P253A|uc011mmi.2,p.P322A|ENST00000334136,p.P308A|ENST00000444343,p.P322A|NM_006044,p.P308A|uc010nig.1,p.P156A|uc004dks.1,p.P308A	retained_intron, protein_coding, processed_transcript	uc011mmk.1	nonsynonymous SNV	exon9	c.C865G	p.P289A	GFGQGQGYTINVPWNQVGMRDADYI	GFGQGQGYTINVAWNQVGMRDADYI	10.0	1.0	unscreened	-	1913_X:48672962-48672962 C>G_GFGQGQGYTINVAWNQVGMRDADYI
6:31614242-31614242 G>A	1.0	1913	MELANOMA	-	-	-	-	BAG6	uc011dnx.2,p.R283C|uc003nvf.4,p.R283C|NM_001098534,p.R283C|NM_080703,p.R283C|NM_001199698,p.R283C|ENST00000439687,p.R283C|uc003nvg.4,p.R289C|NM_004639,p.R289C|ENST00000362049,p.R283C|ENST00000211379,p.R283C|uc011dnw.2,p.R283C|ENST00000404765,p.R283C|NM_001199697,p.R283C|NM_080702,p.R283C|ENST00000435080,p.R283C|ENST00000375976,p.R283C|ENST00000375964,p.R289C|uc003nvh.4,p.R283C|ENST00000437771,p.R283C|uc003nvi.4,p.R283C	retained_intron, protein_coding, processed_transcript	uc011dnx.2	nonsynonymous SNV	exon8	c.C847T	p.R283C	VEVLQELQRLESRLQPFLQRYYEVL	VEVLQELQRLESCLQPFLQRYYEVL	10.0	8.0	unscreened	-	1913_6:31614242-31614242 G>A_VEVLQELQRLESCLQPFLQRYYEVL
8:71069324-71069324 G>A	1.0	1913	MELANOMA	-	-	-	1	NCOA2	uc003xyn.1,p.P426S|ENST00000518287,p.P426S|NM_006540,p.P426S|ENST00000452400,p.P426S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xyn.1	nonsynonymous SNV	exon11	c.C1276T	p.P426S	GQDMTLSSNINFPINGPKEQMGMPM	GQDMTLSSNINFSINGPKEQMGMPM	6.0	6.0	unscreened	-	1913_8:71069324-71069324 G>A_GQDMTLSSNINFSINGPKEQMGMPM
16:70551549-70551549 G>A	1.0	1913	MELANOMA	-	-	-	-	COG4	ENST00000323786,p.R117C|uc002ezd.3,p.R117C|uc002ezc.3,p.R117C|ENST00000564653,p.R117C|NM_015386,p.R117C|ENST00000393612,p.R113C|ENST00000482252,p.R113C|NM_001195139,p.R117C|ENST00000534772,p.R40C	retained_intron, protein_coding, nonsense_mediated_decay	uc002ezd.3	nonsynonymous SNV	exon3	c.C349T	p.R117C	TCNLAENVSSKVRQLDLAKNRLYQA	TCNLAENVSSKVCQLDLAKNRLYQA	9.0	3.0	unscreened	-	1913_16:70551549-70551549 G>A_TCNLAENVSSKVCQLDLAKNRLYQA
8:100887859-100887859 G>A	1.0	1913	MELANOMA	-	-	-	-	VPS13B	uc003yiw.4,p.V3987M|ENST00000358544,p.V4012M|uc003yiv.4,p.V4012M|NM_017890,p.V4012M|NM_152564,p.V3987M|ENST00000357162,p.V3987M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yiw.4	nonsynonymous SNV	exon62	c.G11959A	p.V3987M	HFAQVFLSKFTMVKNKALRKGFP	HFAQVFLSKFTMMKNKALRKGFP	7.0	4.0	unscreened	-	1913_8:100887859-100887859 G>A_HFAQVFLSKFTMMKNKALRKGFP
12:406224-406224 G>A	1.0	1913	MELANOMA	-	-	-	1	KDM5A	ENST00000382815,p.S1406F|uc001qif.1,p.S1406F|ENST00000399788,p.S1406F|NM_001042603,p.S1406F	retained_intron, protein_coding, processed_transcript	uc001qif.1	nonsynonymous SNV	exon25	c.C4217T	p.S1406F	PSFCAEHAYSSASKSCSQGSSTPRK	PSFCAEHAYSSAFKSCSQGSSTPRK	7.0	3.0	unscreened	-	1913_12:406224-406224 G>A_PSFCAEHAYSSAFKSCSQGSSTPRK
16:89753195-89753195 C>T	1.0	1913	MELANOMA	-	-	-	-	CDK10	ENST00000353379,p.P26L|uc002foa.2,p.P26L|uc010vpl.1,p.P26L|NM_052988,p.P26L|uc010cio.3,p.P26L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vpl.1	nonsynonymous SNV	exon1	c.C77T	p.P26L	KCIRKEGFFTVPPEHRLGRCRSVKE	KCIRKEGFFTVPLEHRLGRCRSVKE	9.0	4.0	unscreened	-	1913_16:89753195-89753195 C>T_KCIRKEGFFTVPLEHRLGRCRSVKE
X:39933836-39933836 G>A	1.0	1913	MELANOMA	-	-	-	1	BCOR	ENST00000378444,p.P255S|uc004den.4,p.P255S|uc004dep.4,p.P255S|NM_017745,p.P255S|uc004deo.4,p.P255S|NM_001123383,p.P255S|ENST00000342274,p.P255S|ENST00000406200,p.P255S|uc004dem.4,p.P255S|uc004deq.4,p.P255S|ENST00000397354,p.P255S|ENST00000378455,p.P255S|NM_001123385,p.P255S|NM_001123384,p.P255S	retained_intron, protein_coding	uc004deq.4	nonsynonymous SNV	exon4	c.C763T	p.P255S	RFLYLPPPHYVGPHIPSSLASPMRL	RFLYLPPPHYVGSHIPSSLASPMRL	7.0	9.0	unscreened	-	1913_X:39933836-39933836 G>A_RFLYLPPPHYVGSHIPSSLASPMRL
7:151849987-151849987 G>A	1.0	1913	MELANOMA	-	-	-	1	KMT2C	ENST00000424877,p.P727L|uc003wla.3,p.P4110L|NM_170606,p.P4110L|ENST00000355193,p.P4167L|ENST00000262189,p.P4110L|uc003wky.3,p.P1674L|uc003wkz.3,p.P3228L|uc003wkx.3,p.P268L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003wla.3	nonsynonymous SNV	exon49	c.C12329T	p.P4110L	VAAFSDLLHVRIPNSYEVSSAPDVP	VAAFSDLLHVRILNSYEVSSAPDVP	7.0	4.0	unscreened	-	1913_7:151849987-151849987 G>A_VAAFSDLLHVRILNSYEVSSAPDVP
1:183521007-183521007 T>G	1.0	1913	MELANOMA	-	-	-	-	SMG7	uc001gqh.3,p.L1073V|NM_173156,p.L1119V|NM_201568,p.L1073V|ENST00000508461,p.L1127V|ENST00000367537,p.L1152V|ENST00000515829,p.L1073V|NM_001174061,p.L1127V|uc001gqg.3,p.L1119V|ENST00000456731,p.L1031V|ENST00000347615,p.L1119V|uc010poc.2,p.L1127V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010poc.2	nonsynonymous SNV	exon22	c.T3379G	p.L1127V	MMHPGPSALEQLLMQQKQKQQRGQG	MMHPGPSALEQLVMQQKQKQQRGQG	8.0	4.0	unscreened	-	1913_1:183521007-183521007 T>G_MMHPGPSALEQLVMQQKQKQQRGQG
1:144822039-144822039 C>T	1.0	1913	MELANOMA	-	-	-	-	NBPF8,NBPF9	uc009wii.1,p.H315Y|ENST00000281815,p.H13Y|ENST00000338347,p.H328Y|ENST00000440491,p.H328Y|uc021ouf.1,p.H246Y|uc010oxo.2,p.H586Y	protein_coding, processed_transcript	uc021ouf.1	nonsynonymous SNV	exon7	c.C736T	p.H246Y	MLASYKSYSSTFHSLEEQQVCMAVD	MLASYKSYSSTFYSLEEQQVCMAVD	7.0	8.0	unscreened	-	1913_1:144822039-144822039 C>T_MLASYKSYSSTFYSLEEQQVCMAVD
5:87521637-87521637 C>T	1.0	1913	MELANOMA	-	-	-	-	TMEM161B	uc003kjc.3,p.D80N|ENST00000512429,p.D69N|NM_001289008,p.D69N|ENST00000507872,p.D80N|NM_153354,p.D80N|ENST00000511087,p.D80N|ENST00000296595,p.D80N|ENST00000514135,p.D80N|NM_001289007,p.D80N|uc011cty.2,p.D69N	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cty.2	nonsynonymous SNV	exon5	c.G205A	p.D69N	GHIESKPLTIPKDIDLHLETKSVTE	GHIESKPLTIPKNIDLHLETKSVTE	7.0	8.0	unscreened	-	1913_5:87521637-87521637 C>T_GHIESKPLTIPKNIDLHLETKSVTE
5:127448548-127448548 C>T	1.0	1913	MELANOMA	-	-	-	-	SLC12A2	NM_001256461,p.P267S|NM_001046,p.P267S|ENST00000343225,p.P267S|uc010jdg.3,p.P267S|uc003kus.3,p.P267S|ENST00000262461,p.P267S|ENST00000509205,p.P267S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jdg.3	nonsynonymous SNV	exon2	c.C799T	p.P267S	FEDGFANGEESTPTRDAVVTYTAES	FEDGFANGEESTSTRDAVVTYTAES	6.0	8.0	unscreened	-	1913_5:127448548-127448548 C>T_FEDGFANGEESTSTRDAVVTYTAES
3:172351444-172351444 G>A	1.0	1913	MELANOMA	-	-	-	-	NCEH1	NM_020792,p.L382F|NM_001146276,p.L390F|uc011bpx.2,p.L390F|uc011bpy.2,p.L217F|ENST00000538775,p.L390F|ENST00000543711,p.L217F|uc011bpw.2,p.L217F|ENST00000273512,p.L382F|ENST00000475381,p.L350F|uc003fig.3,p.L382F|NM_001146277,p.L217F|NM_001146278,p.L217F	retained_intron, protein_coding, nonsense_mediated_decay	uc011bpy.2	nonsynonymous SNV	exon4	c.C649T	p.L217F	PKTYILTCEHDVLRDDGIMYAKRLE	PKTYILTCEHDVFRDDGIMYAKRLE	6.0	2.0	unscreened	-	1913_3:172351444-172351444 G>A_PKTYILTCEHDVFRDDGIMYAKRLE
3:27462267-27462267 A>C	1.0	1913	MELANOMA	-	-	-	-	SLC4A7	uc010hfl.4,p.L20W|ENST00000388777,p.L20W|ENST00000419036,p.L21W	retained_intron, protein_coding, nonsense_mediated_decay	uc010hfl.4	nonsynonymous SNV	exon2	c.T59G	p.L20W	KIVLLTSARFLFLLLGPAGKAPQYH	KIVLLTSARFLFWLLGPAGKAPQYH	8.0	9.0	unscreened	-	1913_3:27462267-27462267 A>C_KIVLLTSARFLFWLLGPAGKAPQYH
4:1389129-1389129 G>A	1.0	1913	MELANOMA	-	-	-	-	CRIPAK	NM_175918,p.G277E|ENST00000324803,p.G277E|uc003gdf.2,p.G277E	protein_coding	uc003gdf.2	nonsynonymous SNV	exon1	c.G830A	p.G277E	PMWSARLLTCRCGVPACSHVPMWSA	PMWSARLLTCRCEVPACSHVPMWSA	6.0	1.0	unscreened	-	1913_4:1389129-1389129 G>A_PMWSARLLTCRCEVPACSHVPMWSA
5:176813293-176813293 C>T	0.0	1913	MELANOMA	-	-	-	-	SLC34A1	uc003mgk.4,p.L111F|NM_001167579,p.L111F|NM_003052,p.L111F|ENST00000324417,p.L111F|uc021yis.1,p.L111F|ENST00000512593,p.L111F	retained_intron, protein_coding, processed_transcript	uc021yis.1	nonsynonymous SNV	exon4	c.C331T	p.L111F	AMLLKVPLMLTFLYLFVCSLDMLSS	AMLLKVPLMLTFFYLFVCSLDMLSS	1.0	2.0	unscreened	-	1913_5:176813293-176813293 C>T_AMLLKVPLMLTFFYLFVCSLDMLSS
21:46363696-46363696 C>T	1.0	1913	MELANOMA	-	-	-	-	FAM207A	NM_058190,p.S76F|uc002zgl.3,p.S76F|ENST00000291634,p.S76F	protein_coding, processed_transcript	uc002zgl.3	nonsynonymous SNV	exon2	c.C227T	p.S76F	VQKLELDVRSVTSVRRGEAGSSARS	VQKLELDVRSVTFVRRGEAGSSARS	8.0	5.0	unscreened	-	1913_21:46363696-46363696 C>T_VQKLELDVRSVTFVRRGEAGSSARS
14:52186923-52186923 C>T	1.0	1913	MELANOMA	-	-	-	-	FRMD6	uc001wzf.3,p.S85F|NM_152330,p.S384F|uc001wzd.3,p.S392F|ENST00000555703,p.S34F|uc001wze.3,p.S315F|uc001wzb.4,p.S384F|ENST00000554167,p.S315F|ENST00000553556,p.S34F|uc001wzg.3,p.S34F|ENST00000356218,p.S384F|ENST00000344768,p.S392F|uc001wzc.3,p.S384F|ENST00000555197,p.S122F|NM_001042481,p.S384F|NM_001267047,p.S34F|ENST00000395718,p.S384F|NM_001267046,p.S392F	retained_intron, protein_coding, processed_transcript	uc001wzg.3	nonsynonymous SNV	exon2	c.C101T	p.S34F	RLSRHSTASHSSSHTSGIEADTKPR	RLSRHSTASHSSFHTSGIEADTKPR	10.0	3.0	unscreened	-	1913_14:52186923-52186923 C>T_RLSRHSTASHSSFHTSGIEADTKPR
1:97771736-97771736 C>T	1.0	1913	MELANOMA	-	-	-	-	DPYD	NM_000110,p.E726K|uc001drv.3,p.E726K|ENST00000370192,p.E726K	protein_coding, processed_transcript	uc001drv.3	nonsynonymous SNV	exon17	c.G2176A	p.E726K	VTDIVSIARAAKEGGANGVTATNTV	VTDIVSIARAAKKGGANGVTATNTV	9.0	9.0	unscreened	-	1913_1:97771736-97771736 C>T_VTDIVSIARAAKKGGANGVTATNTV
19:35655001-35655001 C>T	0.0	1913	MELANOMA	-	-	-	-	FXYD5	uc002nyi.2,p.P16S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nyi.2	nonsynonymous SNV	exon1	c.C46T	p.P16S	RGFFQMQTLSNIPCFCLHGSLLPST	RGFFQMQTLSNISCFCLHGSLLPST	10.0	5.0	unscreened	-	1913_19:35655001-35655001 C>T_RGFFQMQTLSNISCFCLHGSLLPST
6:143792187-143792187 T>C	1.0	1913	MELANOMA	-	-	-	-	PEX3	ENST00000367592,p.Y97H|NM_003630,p.Y141H|uc011edx.1,p.Y141H|ENST00000367591,p.Y141H|uc003qjl.3,p.Y141H	retained_intron, protein_coding	uc011edx.1	nonsynonymous SNV	exon5	c.T421C	p.Y141H	LRVQLNIIGGYIYLDNAAVGKNGTT	LRVQLNIIGGYIHLDNAAVGKNGTT	7.0	8.0	unscreened	-	1913_6:143792187-143792187 T>C_LRVQLNIIGGYIHLDNAAVGKNGTT
3:37550051-37550051 T>C	1.0	1913	MELANOMA	-	-	-	-	ITGA9	uc003chd.3,p.V277A|NM_002207,p.V277A|ENST00000264741,p.V277A|uc003chc.3,p.V277A|ENST00000422441,p.V277A	retained_intron, protein_coding	uc003chd.3	nonsynonymous SNV	exon8	c.T830C	p.V277A	VGGAPQDKGIGKVYIFRADRRSGTL	VGGAPQDKGIGKAYIFRADRRSGTL	8.0	5.0	unscreened	-	1913_3:37550051-37550051 T>C_VGGAPQDKGIGKAYIFRADRRSGTL
3:184009216-184009216 G>A	0.0	1913	MELANOMA	-	-	-	-	ECE2	NM_001037324,p.G675R|uc003fnl.4,p.G750R|ENST00000402825,p.G822R|ENST00000357474,p.G750R|ENST00000404464,p.G704R|uc003fni.4,p.G822R|NM_001100120,p.G750R|uc003fnm.4,p.G704R|NM_014693,p.G822R|ENST00000359140,p.G675R|NM_001100121,p.G704R|uc003fnk.4,p.G675R	retained_intron, protein_coding, nonsense_mediated_decay	uc003fnm.4	nonsynonymous SNV	exon18	c.G2110A	p.G704R	AVGLTNHQLFFVGFAQVWCSVRTPE	AVGLTNHQLFFVRFAQVWCSVRTPE	7.0	3.0	unscreened	-	1913_3:184009216-184009216 G>A_AVGLTNHQLFFVRFAQVWCSVRTPE
12:64609699-64609699 A>T	1.0	1913	MELANOMA	-	-	-	-	C12orf66	ENST00000398055,p.Y94N|ENST00000311915,p.Y94N|uc001srw.4,p.Y94N|ENST00000544871,p.Y41N|NM_152440,p.Y94N|NM_001300941,p.Y41N|NM_001300940,p.Y94N	protein_coding, processed_transcript	uc001srw.4	nonsynonymous SNV	exon2	c.T280A	p.Y94N	SFFSRKDSIRTIYTSLHNELKKVVT	SFFSRKDSIRTINTSLHNELKKVVT	6.0	4.0	unscreened	-	1913_12:64609699-64609699 A>T_SFFSRKDSIRTINTSLHNELKKVVT
3:135721467-135721467 C>T	0.0	1913	MELANOMA	-	-	-	-	PPP2R3A	uc003eqv.2,p.S376F|ENST00000264977,p.S376F|NM_002718,p.S376F	protein_coding, processed_transcript, nonsense_mediated_decay	uc003eqv.2	nonsynonymous SNV	exon2	c.C1127T	p.S376F	DTVQSIPNNSTNSLYNLEVNDPRTL	DTVQSIPNNSTNFLYNLEVNDPRTL	5.0	1.0	unscreened	-	1913_3:135721467-135721467 C>T_DTVQSIPNNSTNFLYNLEVNDPRTL
8:145161561-145161561 A>G	1.0	1913	MELANOMA	-	-	-	-	MAF1	ENST00000534585,p.S232G|ENST00000532522,p.S202G|NM_032272,p.S202G|ENST00000322428,p.S202G|uc003zbc.1,p.S202G|ENST00000534811,p.S20G|ENST00000527058,p.S232G	protein_coding	uc003zbc.1	nonsynonymous SNV	exon6	c.A604G	p.S202G	FYNKRLKRIVFFSCRSISGSTYTPS	FYNKRLKRIVFFGCRSISGSTYTPS	10.0	7.0	unscreened	-	1913_8:145161561-145161561 A>G_FYNKRLKRIVFFGCRSISGSTYTPS
14:76259295-76259295 C>T	1.0	1913	MELANOMA	-	-	-	-	TTLL5	uc001xrx.3,p.A1008V|uc001xsa.3,p.A82V|uc001xrz.3,p.A583V|uc010ask.2,p.A1023V|ENST00000298832,p.A1008V|ENST00000554510,p.A517V|ENST00000556893,p.A559V|NM_015072,p.A1008V|ENST00000557636,p.A1023V	retained_intron, protein_coding, processed_transcript	uc010ask.2	nonsynonymous SNV	exon28	c.C3068T	p.A1023V	GSCYLNKHHSGIAKTQKEGEDASLY	GSCYLNKHHSGIVKTQKEGEDASLY	7.0	1.0	unscreened	-	1913_14:76259295-76259295 C>T_GSCYLNKHHSGIVKTQKEGEDASLY
9:140086602-140086602 G>A	1.0	1913	MELANOMA	-	-	-	-	TPRN	ENST00000409012,p.L700F|NM_001128228,p.L700F|uc004clu.3,p.L700F	retained_intron, protein_coding, processed_transcript	uc004clu.3	nonsynonymous SNV	exon4	c.C2098T	p.L700F	VEAMLTPASQNDLSDFRSEPALYF	VEAMLTPASQNDFSDFRSEPALYF	7.0	9.0	unscreened	-	1913_9:140086602-140086602 G>A_VEAMLTPASQNDFSDFRSEPALYF
9:140086602-140086602 G>A	1.0	1913	MELANOMA	-	-	-	-	TPRN	ENST00000321773,p.L667F|uc004clt.3,p.L728F|ENST00000333046,p.L526F	retained_intron, protein_coding, processed_transcript	uc004clt.3	nonsynonymous SNV	exon3	c.C2182T	p.L728F	SHFQLTPASQNDLSDFRSEPALYF	SHFQLTPASQNDFSDFRSEPALYF	7.0	9.0	unscreened	-	1913_9:140086602-140086602 G>A_SHFQLTPASQNDFSDFRSEPALYF
19:35434714-35434714 C>T	1.0	1913	MELANOMA	-	-	-	-	ZNF30	uc010edq.1,p.H283Y|uc010edp.1,p.H282Y|uc002nxf.2,p.H201Y|NM_001099438,p.H283Y|ENST00000426813,p.H201Y|NM_001099437,p.H283Y|uc010edr.1,p.H283Y|ENST00000439785,p.H283Y|ENST00000601142,p.H282Y|ENST00000303586,p.H283Y|NM_194325,p.H282Y	protein_coding, processed_transcript	uc010edr.1	nonsynonymous SNV	exon5	c.C847T	p.H283Y	STFSYLVQHQRIHTSEKPYECKECG	STFSYLVQHQRIYTSEKPYECKECG	5.0	8.0	unscreened	-	1913_19:35434714-35434714 C>T_STFSYLVQHQRIYTSEKPYECKECG
14:31604724-31604724 A>T	1.0	1913	MELANOMA	-	-	-	-	HECTD1	NM_015382,p.F1071Y|ENST00000399332,p.F1071Y|ENST00000553957,p.F545Y|ENST00000553700,p.F1071Y|uc001wrd.1,p.F586Y|uc001wrc.1,p.F1071Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wrd.1	nonsynonymous SNV	exon12	c.T1757A	p.F586Y	EGQNFIFRHQHDFDENGIIYWIGTN	EGQNFIFRHQHDYDENGIIYWIGTN	9.0	4.0	unscreened	-	1913_14:31604724-31604724 A>T_EGQNFIFRHQHDYDENGIIYWIGTN
15:72582507-72582507 C>T	1.0	1913	MELANOMA	-	-	-	-	CELF6	uc002auj.2,p.E49K|uc002auh.2,p.E162K|NM_001172685,p.E47K|ENST00000567083,p.E162K|NM_052840,p.E162K|ENST00000569547,p.E162K|NM_001172684,p.E162K|ENST00000539635,p.E23K|ENST00000395258,p.E49K|uc010biw.2,p.E49K|uc002aui.2,p.E268K|uc010ukl.1,p.E47K|ENST00000287202,p.E162K|ENST00000543764,p.E47K|uc010ukm.1,p.E162K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ukm.1	nonsynonymous SNV	exon4	c.G484A	p.E162K	VRRLFQPFGHIEECTVLRSPDGTSK	VRRLFQPFGHIEKCTVLRSPDGTSK	5.0	2.0	unscreened	-	1913_15:72582507-72582507 C>T_VRRLFQPFGHIEKCTVLRSPDGTSK
16:50813653-50813653 C>T	1.0	1913	MELANOMA	-	-	-	1	CYLD	uc010cbs.1,p.P403S|uc002egs.1,p.P403S|ENST00000540145,p.P406S|ENST00000564326,p.P403S|uc002egr.1,p.P403S|NM_001042412,p.P403S|ENST00000566206,p.P403S|uc021tib.1,p.P406S|uc002ego.3,p.P403S|ENST00000427738,p.P406S|ENST00000311559,p.P406S|NM_015247,p.P406S|ENST00000398568,p.P403S|uc002egq.1,p.P403S|ENST00000569418,p.P403S|NM_001042355,p.P403S	retained_intron, protein_coding	uc021tib.1	nonsynonymous SNV	exon7	c.C1216T	p.P406S	DFDRSSPPLQPPPVNSLTTENRFHS	DFDRSSPPLQPPSVNSLTTENRFHS	6.0	7.0	unscreened	-	1913_16:50813653-50813653 C>T_DFDRSSPPLQPPSVNSLTTENRFHS
4:1389069-1389069 G>A	1.0	1913	MELANOMA	-	-	-	-	CRIPAK	ENST00000324803,p.G257E|uc003gdf.2,p.G257E|NM_175918,p.G257E	protein_coding	uc003gdf.2	nonsynonymous SNV	exon1	c.G770A	p.G257E	PMWSARLLTCRCGVPACSHVPMWSA	PMWSARLLTCRCEVPACSHVPMWSA	6.0	9.0	unscreened	-	1913_4:1389069-1389069 G>A_PMWSARLLTCRCEVPACSHVPMWSA
2:224746740-224746740 T>A	1.0	1913	MELANOMA	-	-	-	-	WDFY1	uc002vnq.3,p.K328M|NM_020830,p.K328M|ENST00000233055,p.K328M	retained_intron, protein_coding, processed_transcript	uc002vnq.3	nonsynonymous SNV	exon10	c.A983T	p.K328M	KCGQAVCGKCSSKRSSYPVMGFEFQ	KCGQAVCGKCSSMRSSYPVMGFEFQ	8.0	6.0	unscreened	-	1913_2:224746740-224746740 T>A_KCGQAVCGKCSSMRSSYPVMGFEFQ
20:44485897-44485897 G>A	1.0	1913	MELANOMA	-	-	-	-	ACOT8	uc010zxe.2,p.P20S|ENST00000486165,p.P20S|ENST00000481938,p.P20S|ENST00000483141,p.P20S|ENST00000461272,p.P20S|ENST00000217455,p.P20S|uc002xqa.2,p.P20S|uc010zxf.2,p.P20S|ENST00000426915,p.P18S|ENST00000488679,p.P20S|NM_005469,p.P20S	retained_intron, protein_coding, nonsense_mediated_decay	uc010zxf.2	nonsynonymous SNV	exon1	c.C58T	p.P20S	EDGQGCGDRGDPPGDLRSVLVTTVL	EDGQGCGDRGDPSGDLRSVLVTTVL	9.0	4.0	unscreened	-	1913_20:44485897-44485897 G>A_EDGQGCGDRGDPSGDLRSVLVTTVL
3:11643403-11643403 G>A	1.0	1913	MELANOMA	-	-	-	-	VGLL4	ENST00000419541,p.P53L|NM_001128219,p.P59L|ENST00000458499,p.P49L|ENST00000273038,p.P53L|uc010hdx.1,p.P59L|ENST00000445411,p.P53L|NM_014667,p.P53L|uc003bwf.2,p.P53L|ENST00000417206,p.P53L|ENST00000430365,p.P59L|NM_001284390,p.P58L|uc003bwg.2,p.P58L|ENST00000404339,p.P58L|ENST00000418000,p.P53L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010hdx.1	nonsynonymous SNV	exon2	c.C176T	p.P59L	LSSHRTGPPPISPSKRKFSMEPGDE	LSSHRTGPPPISLSKRKFSMEPGDE	9.0	8.0	unscreened	-	1913_3:11643403-11643403 G>A_LSSHRTGPPPISLSKRKFSMEPGDE
2:73827859-73827859 C>G	1.0	1913	MELANOMA	-	-	-	-	ALMS1	ENST00000264448,p.T3907S|ENST00000409009,p.T3865S|uc002sjf.1,p.T3865S|uc002sjh.1,p.T3295S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002sjh.1	nonsynonymous SNV	exon11	c.C9884G	p.T3295S	NGAKKHTRDVGITFPTPSSSEAKLE	NGAKKHTRDVGISFPTPSSSEAKLE	6.0	5.0	unscreened	-	1913_2:73827859-73827859 C>G_NGAKKHTRDVGISFPTPSSSEAKLE
6:90326332-90326332 A>G	1.0	1913	MELANOMA	-	-	-	-	ANKRD6	NM_001242814,p.K191E|ENST00000339746,p.K224E|NM_001242813,p.K224E|NM_001242811,p.K224E|ENST00000447838,p.K224E|ENST00000485637,p.K224E|ENST00000369408,p.K224E|ENST00000522441,p.K224E|uc011dzy.2,p.K224E|ENST00000520793,p.K191E|NM_001242809,p.K224E|uc003pni.4,p.K224E|uc003pnf.4,p.K224E|uc003pne.4,p.K224E|uc010kcd.3,p.K191E|NM_014942,p.K224E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dzy.2	nonsynonymous SNV	exon8	c.A670G	p.K224E	HVAAALNHKKVAKILLEAGADTTIV	HVAAALNHKKVAEILLEAGADTTIV	7.0	2.0	unscreened	-	1913_6:90326332-90326332 A>G_HVAAALNHKKVAEILLEAGADTTIV
16:27689204-27689204 C>T	1.0	1913	MELANOMA	-	-	-	-	KIAA0556	ENST00000261588,p.P232L|NM_015202,p.P232L|uc002dox.1,p.P140L|uc002dow.3,p.P232L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dox.1	nonsynonymous SNV	exon4	c.C419T	p.P140L	PALVGHPRHDRPPSSGDWTQKDVHG	PALVGHPRHDRPLSSGDWTQKDVHG	6.0	2.0	unscreened	-	1913_16:27689204-27689204 C>T_PALVGHPRHDRPLSSGDWTQKDVHG
22:19210287-19210287 G>A	1.0	1913	MELANOMA	-	-	ID=COSM182039;OCCURENCE=1(large_intestine)	1	CLTCL1	ENST00000263200,p.R780C|uc011agw.1,p.R780C|ENST00000505027,p.R780C|uc021wle.1,p.R780C|uc021wlc.1,p.R780C|ENST00000353891,p.R780C|uc021wld.1,p.R780C|NM_007098,p.R780C|NM_001835,p.R780C|uc021wlf.1,p.R780C|ENST00000427926,p.R780C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wlf.1	nonsynonymous SNV	exon15	c.C2338T	p.R780C	LTDQLPLIIVCDRFGFVHDLVLYLY	LTDQLPLIIVCDCFGFVHDLVLYLY	5.0	2.0	unscreened	-	1913_22:19210287-19210287 G>A_LTDQLPLIIVCDCFGFVHDLVLYLY
11:63486662-63486662 C>T	1.0	1913	MELANOMA	-	-	-	-	RTN3	ENST00000339997,p.P211S|uc009yov.3,p.P118S|uc001nxn.3,p.P211S|NM_001265589,p.P230S|uc001nxq.3,p.P230S|NM_201428,p.P211S|NM_001265590,p.P118S|ENST00000540798,p.P118S|ENST00000377819,p.P230S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009yov.3	nonsynonymous SNV	exon2	c.C352T	p.P118S	SKVEGIYTYSLSPSKVSGDDVIEKD	SKVEGIYTYSLSSSKVSGDDVIEKD	10.0	1.0	unscreened	-	1913_11:63486662-63486662 C>T_SKVEGIYTYSLSSSKVSGDDVIEKD
19:50916701-50916701 C>A	1.0	1913	MELANOMA	-	-	-	1	POLD1	uc002psb.5,p.R725S|ENST00000600859,p.R725S|NM_001256849,p.R725S|NM_002691,p.R725S|uc010eny.4,p.R751S|ENST00000595904,p.R751S|uc002psc.5,p.R725S|ENST00000440232,p.R725S|ENST00000599857,p.R725S	retained_intron, protein_coding, nonsense_mediated_decay	uc010eny.4	nonsynonymous SNV	exon17	c.C2251A	p.R751S	CLEISQSVTGFGRQMIEKTKQLVES	CLEISQSVTGFGSQMIEKTKQLVES	9.0	4.0	unscreened	-	1913_19:50916701-50916701 C>A_CLEISQSVTGFGSQMIEKTKQLVES
7:18688140-18688140 C>T	1.0	1913	MELANOMA	-	-	-	-	HDAC9	ENST00000428307,p.S387L|uc011jye.2,p.S403L|uc003sua.1,p.S409L|uc011jyd.2,p.S431L|ENST00000405010,p.S431L|NM_001204147,p.S354L|uc003suj.3,p.S390L|uc010kud.2,p.S434L|uc003suf.2,p.S462L|ENST00000524023,p.S354L|uc003sud.2,p.S431L|ENST00000441542,p.S434L|NM_178423,p.S431L|ENST00000406451,p.S431L|uc011jya.2,p.S429L|NM_178425,p.S434L|uc011jyc.2,p.S390L|ENST00000417496,p.S429L|ENST00000406072,p.S418L|ENST00000432645,p.S431L|NM_001204144,p.S429L|NM_001204146,p.S390L|ENST00000401921,p.S390L|NM_001204148,p.S403L|NM_001204145,p.S387L|uc010kue.1,p.S174L|NM_014707,p.S431L|uc011jyb.2,p.S387L|ENST00000456174,p.S403L|uc003sui.3,p.S434L|NM_058176,p.S431L|uc003sue.3,p.S431L|uc011jyf.2,p.S354L|uc003suh.3,p.S431L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011jyf.2	nonsynonymous SNV	exon9	c.C1061T	p.S354L	HPQSPLATKERISPGIRGTHKLPRH	HPQSPLATKERILPGIRGTHKLPRH	6.0	5.0	unscreened	-	1913_7:18688140-18688140 C>T_HPQSPLATKERILPGIRGTHKLPRH
2:70033539-70033539 C>T	1.0	1913	MELANOMA	-	-	-	-	ANXA4	ENST00000409920,p.S72L|uc002sfs.4,p.S72L	retained_intron, protein_coding, processed_transcript	uc002sfs.4	nonsynonymous SNV	exon5	c.C215T	p.S72L	STIGRDLIDDLKSELSGNFEQGAGT	STIGRDLIDDLKLELSGNFEQGAGT	9.0	7.0	unscreened	-	1913_2:70033539-70033539 C>T_STIGRDLIDDLKLELSGNFEQGAGT
2:204292020-204292020 T>G	1.0	1913	MELANOMA	-	-	-	-	ABI2	ENST00000261017,p.V458G|ENST00000261018,p.V282G|ENST00000295851,p.V496G|uc010zij.2,p.V373G|NM_001282926,p.V490G|NM_001282927,p.V384G|ENST00000261016,p.V384G|uc002vaa.3,p.V496G|uc010zin.2,p.V173G|uc010zii.2,p.V490G|ENST00000424558,p.V490G|uc010zik.2,p.V221G|uc010zil.2,p.V360G|ENST00000422511,p.V463G|uc002vab.3,p.V384G|uc002vac.3,p.V282G|NM_005759,p.V458G|ENST00000430418,p.V441G|uc002uzz.3,p.V458G|NM_001282925,p.V496G|uc010zim.2,p.V309G|NM_001282932,p.V373G|uc010zih.2,p.V144G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zin.2	nonsynonymous SNV	exon5	c.T518G	p.V173G	NDDGWYEGVMNGVTGLFPGNYVESI	NDDGWYEGVMNGGTGLFPGNYVESI	9.0	4.0	unscreened	-	1913_2:204292020-204292020 T>G_NDDGWYEGVMNGGTGLFPGNYVESI
22:36205963-36205963 G>A	1.0	1913	MELANOMA	-	-	-	-	RBFOX2	uc003aoj.4,p.P39L|NM_014309,p.P39L|ENST00000405409,p.P39L|ENST00000408983,p.P61L|uc010gwu.3,p.P19L|NM_001082579,p.P109L|ENST00000416721,p.P39L|uc003aom.4,p.P39L|ENST00000262829,p.P39L|NM_001082576,p.P39L|uc003aon.4,p.P109L|NM_001082577,p.P39L|ENST00000397305,p.P19L|uc003aol.4,p.P39L|ENST00000397303,p.P19L|uc003aoo.4,p.P109L|ENST00000438146,p.P109L|NM_001031695,p.P39L|uc003aoh.4,p.P39L|uc003aok.4,p.P39L|ENST00000473487,p.P19L|ENST00000449924,p.P39L|NM_001082578,p.P109L|ENST00000359369,p.P19L|ENST00000414461,p.P39L	retained_intron, protein_coding, processed_transcript	uc010gwu.3	nonsynonymous SNV	exon2	c.C56T	p.P19L	TIPFPPPPQNGIPTEYGVPHTQDYA	TIPFPPPPQNGILTEYGVPHTQDYA	9.0	4.0	unscreened	-	1913_22:36205963-36205963 G>A_TIPFPPPPQNGILTEYGVPHTQDYA
2:152349911-152349911 G>T	1.0	1913	MELANOMA	-	-	-	-	NEB	ENST00000397345,p.P8241T|uc010zbz.2,p.P154T|uc031rpp.1,p.P8276T|NM_001271208,p.P8276T|ENST00000603639,p.P8241T|uc010zcb.2,p.P154T|NM_001164508,p.P8241T|NM_001164507,p.P8241T|ENST00000427231,p.P8241T|ENST00000604864,p.P8241T|ENST00000397336,p.P216T|uc010zca.2,p.P216T|ENST00000172853,p.P6385T|ENST00000509223,p.P154T|uc021vrd.1,p.P6385T|uc002txu.3,p.P8241T|uc021vrc.1,p.P8241T|uc021vrb.1,p.P6385T|uc002txq.3,p.P264T|ENST00000409198,p.P6385T	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon177	c.C24826A	p.P8276T	ENMRKATPTPVTPEMERAKRNQENI	ENMRKATPTPVTTEMERAKRNQENI	5.0	7.0	unscreened	-	1913_2:152349911-152349911 G>T_ENMRKATPTPVTTEMERAKRNQENI
19:1112027-1112027 G>A	1.0	1913	MELANOMA	-	-	-	-	SBNO2	ENST00000361757,p.R890C|uc010dse.3,p.R873C|uc002lrj.4,p.R833C|NM_001100122,p.R833C|uc002lrk.4,p.R890C|ENST00000587024,p.R880C|NM_014963,p.R890C|ENST00000438103,p.R833C	retained_intron, protein_coding	uc010dse.3	nonsynonymous SNV	exon23	c.C2617T	p.R873C	ALTHGDRRATESRDLSKYNFENKYG	ALTHGDRRATESCDLSKYNFENKYG	8.0	7.0	unscreened	-	1913_19:1112027-1112027 G>A_ALTHGDRRATESCDLSKYNFENKYG
1:155287768-155287768 G>A	1.0	1913	MELANOMA	-	-	-	-	FDPS	ENST00000447866,p.D107N|uc001fkc.2,p.D173N|NM_001135821,p.D173N|NM_001135822,p.D107N|uc001fkd.2,p.D107N|NM_001242824,p.D107N|ENST00000356657,p.D173N|uc001fke.2,p.D173N|uc021paw.1,p.D107N|ENST00000368356,p.D173N|NM_002004,p.D173N	protein_coding, processed_transcript	uc021paw.1	nonsynonymous SNV	exon4	c.G319A	p.D107N	LQAFFLVADDIMDSSLTRRGQICWY	LQAFFLVADDIMNSSLTRRGQICWY	10.0	8.0	unscreened	-	1913_1:155287768-155287768 G>A_LQAFFLVADDIMNSSLTRRGQICWY
3:184009216-184009216 G>A	0.0	1913	MELANOMA	-	-	-	-	ECE2	ENST00000430587,p.G696R|uc011bri.1,p.G737R	retained_intron, protein_coding, nonsense_mediated_decay	uc011bri.1	nonsynonymous SNV	exon17	c.G2209A	p.G737R	AVGLTNHQLFFVGFAQVSPSRKAWG	AVGLTNHQLFFVRFAQVSPSRKAWG	7.0	3.0	unscreened	-	1913_3:184009216-184009216 G>A_AVGLTNHQLFFVRFAQVSPSRKAWG
22:33402478-33402478 G>A	0.0	1913	MELANOMA	-	-	-	-	SYN3	uc003amz.3,p.S57F|uc003amy.3,p.S57F|NM_133633,p.S57F|uc003amx.3,p.S57F|NM_001135774,p.S57F|ENST00000441821,p.S57F|ENST00000332840,p.S57F|NM_003490,p.S57F|ENST00000412575,p.S57F|ENST00000358763,p.S57F	retained_intron, protein_coding, processed_transcript	uc003amz.3	nonsynonymous SNV	exon2	c.C170T	p.S57F	PQPLAASFSSPGSSLFSSLSSAMKQ	PQPLAASFSSPGFSLFSSLSSAMKQ	6.0	4.0	unscreened	-	1913_22:33402478-33402478 G>A_PQPLAASFSSPGFSLFSSLSSAMKQ
1:231906800-231906800 C>T	1.0	1913	MELANOMA	-	-	-	-	DISC1	uc010pwu.1,p.P190S|NM_001164548,p.P540S|ENST00000602873,p.P190S|NM_001164556,p.P190S|uc010pwt.1,p.P540S	retained_intron, protein_coding	uc010pwu.1	nonsynonymous SNV	exon4	c.C568T	p.P190S	ASAGQIPFHAEPPETIRRKPFLDG	ASAGQIPFHAEPSETIRRKPFLDG	6.0	6.0	unscreened	-	1913_1:231906800-231906800 C>T_ASAGQIPFHAEPSETIRRKPFLDG
7:100485684-100485684 C>T	1.0	1913	MELANOMA	-	-	-	-	SRRT	uc003uwz.2,p.P779L|NM_001128854,p.P778L|NM_001128853,p.P779L|ENST00000432932,p.P778L|uc003uxa.2,p.P778L|ENST00000457580,p.P779L	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxa.2	nonsynonymous SNV	exon18	c.C2333T	p.P778L	PAQPPGPAQSLTPGLPYPHQTPQGL	PAQPPGPAQSLTLGLPYPHQTPQGL	10.0	6.0	unscreened	-	1913_7:100485684-100485684 C>T_PAQPPGPAQSLTLGLPYPHQTPQGL
1:33237497-33237497 C>T	1.0	1913	MELANOMA	-	-	ID=COSM534909,COSM1648518;OCCURENCE=2(lung)	-	KIAA1522	ENST00000373481,p.S858L|uc010ohm.1,p.S858L|uc001bvu.1,p.S906L|NM_001198972,p.S847L|ENST00000373480,p.S847L|uc001bvv.2,p.S847L|ENST00000401073,p.S906L|NM_020888,p.S906L	retained_intron, protein_coding	uc010ohm.1	nonsynonymous SNV	exon6	c.C2573T	p.S858L	APGGAPTPALGPSAPQKPLRRALSG	APGGAPTPALGPLAPQKPLRRALSG	5.0	1.0	unscreened	-	1913_1:33237497-33237497 C>T_APGGAPTPALGPLAPQKPLRRALSG
10:49654505-49654505 C>T	1.0	1913	MELANOMA	-	-	-	-	ARHGAP22	ENST00000249601,p.E676K|uc010qgl.3,p.E633K|NM_021226,p.E676K|ENST00000435790,p.E682K|uc001jgt.4,p.E676K|uc001jgu.4,p.E692K|uc001jgv.4,p.E374K|uc001jgr.4,p.E393K|NM_001256025,p.E682K|uc001jgs.4,p.E586K|ENST00000417912,p.E692K|ENST00000417247,p.E586K|ENST00000374172,p.E567K|ENST00000477708,p.E509K|ENST00000374170,p.E517K|NM_001256024,p.E692K|NM_001256026,p.E586K|uc010qgm.3,p.E682K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qgm.3	nonsynonymous SNV	exon10	c.G2044A	p.E682K	EDAERRNQLLQREMEEFFSTLGSLT	EDAERRNQLLQRKMEEFFSTLGSLT	4.0	6.0	unscreened	-	1913_10:49654505-49654505 C>T_EDAERRNQLLQRKMEEFFSTLGSLT
15:81593690-81593690 C>T	1.0	1913	MELANOMA	-	-	-	-	IL16	NM_172217,p.S1052L|ENST00000302987,p.S1052L|uc010blq.1,p.S1006L|uc002bgg.3,p.S1052L|ENST00000394660,p.S1052L|uc021ssi.1,p.S351L|NM_004513,p.S351L|ENST00000559388,p.S1006L|uc010unp.2,p.S1094L|uc002bgl.1,p.S351L|uc002bgj.3,p.S546L|uc002bgi.1,p.S442L|ENST00000394652,p.S351L|NM_001172128,p.S1052L|uc010unq.1,p.S351L|uc021ssh.1,p.S1052L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ssi.1	nonsynonymous SNV	exon3	c.C1052T	p.S351L	TSALDTGFSLNLSELREYTEGLTEA	TSALDTGFSLNLLELREYTEGLTEA	9.0	3.0	unscreened	-	1913_15:81593690-81593690 C>T_TSALDTGFSLNLLELREYTEGLTEA
1:231906800-231906800 C>T	1.0	1913	MELANOMA	-	-	-	-	DISC1	ENST00000537876,p.P540S|NM_001164547,p.P540S|NM_001164546,p.P540S|uc010pxg.2,p.P540S|uc010pxc.1,p.P540S	retained_intron, protein_coding	uc010pxg.2	nonsynonymous SNV	exon6	c.C1618T	p.P540S	ASAGQIPFHAEPPETIRRNKCEGKY	ASAGQIPFHAEPSETIRRNKCEGKY	6.0	6.0	unscreened	-	1913_1:231906800-231906800 C>T_ASAGQIPFHAEPSETIRRNKCEGKY
1:223438076-223438076 G>A	0.0	1913	MELANOMA	-	-	-	-	SUSD4	uc001hnx.3,p.S207F|ENST00000343846,p.S207F|uc001hnz.2,p.S207F|NM_017982,p.S207F|ENST00000344029,p.S207F|uc010puw.2,p.S47F|ENST00000366878,p.S207F|uc001hny.4,p.S207F|NM_001037175,p.S207F|uc010pux.1,p.S136F|ENST00000454695,p.S47F	protein_coding, processed_transcript	uc010pux.1	nonsynonymous SNV	exon4	c.C407T	p.S136F	ELQTSFPVGTVISYRCFPGFKLDGS	ELQTSFPVGTVIFYRCFPGFKLDGS	1.0	8.0	unscreened	-	1913_1:223438076-223438076 G>A_ELQTSFPVGTVIFYRCFPGFKLDGS
1:153921014-153921014 G>A	1.0	1913	MELANOMA	-	-	-	-	CRTC2	uc001fdf.4,p.P130L|ENST00000368633,p.P594L|uc021pab.1,p.P594L|ENST00000368630,p.P274L|NM_181715,p.P594L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pab.1	nonsynonymous SNV	exon13	c.C1781T	p.P594L	PGFLGGEGPMGGPQDPHTFNHQNLT	PGFLGGEGPMGGLQDPHTFNHQNLT	9.0	9.0	unscreened	-	1913_1:153921014-153921014 G>A_PGFLGGEGPMGGLQDPHTFNHQNLT
7:143657927-143657927 G>A	0.0	1913	MELANOMA	-	-	-	-	OR2F1	ENST00000392899,p.M288I|uc003wds.1,p.M288I|NM_012369,p.M288I	protein_coding	uc003wds.1	nonsynonymous SNV	exon1	c.G864A	p.M288I	VFYAILTPMLNPMIYSLRNKEVKGA	VFYAILTPMLNPIIYSLRNKEVKGA	1.0	6.0	unscreened	-	1913_7:143657927-143657927 G>A_VFYAILTPMLNPIIYSLRNKEVKGA
2:54133770-54133770 C>T	1.0	1913	MELANOMA	-	-	-	-	PSME4	uc010yop.1,p.D856N|ENST00000404125,p.D970N|ENST00000421748,p.D114N|uc010fbv.1,p.D114N|uc002rxp.2,p.D970N|uc021vho.1,p.D955N|NM_014614,p.D970N|uc010fbu.1,p.D345N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vho.1	nonsynonymous SNV	exon25	c.G2863A	p.D955N	CEYKKIHQDMIRDLLRLSTSSYSQV	CEYKKIHQDMIRNLLRLSTSSYSQV	9.0	4.0	unscreened	-	1913_2:54133770-54133770 C>T_CEYKKIHQDMIRNLLRLSTSSYSQV
19:11892548-11892548 C>T	1.0	1913	MELANOMA	-	-	-	-	ZNF441	ENST00000357901,p.H637Y|NM_152355,p.H637Y|ENST00000454339,p.H570Y|uc010dyj.3,p.H637Y|uc002msn.4,p.H593Y	retained_intron, protein_coding, nonsense_mediated_decay	uc010dyj.3	nonsynonymous SNV	exon4	c.C1909T	p.H637Y	SHSSYLRIHERVHTGEKPYKCKECG	SHSSYLRIHERVYTGEKPYKCKECG	5.0	3.0	unscreened	-	1913_19:11892548-11892548 C>T_SHSSYLRIHERVYTGEKPYKCKECG
22:18389487-18389487 G>A	1.0	1913	MELANOMA	-	-	-	-	MICAL3	NM_001122731,p.A31V|NM_015241,p.A31V|ENST00000383094,p.A31V|ENST00000441493,p.A31V|uc010grf.3,p.A31V|ENST00000429452,p.A31V|uc002zng.4,p.A31V|ENST00000400561,p.A31V|ENST00000444520,p.A31V|ENST00000495076,p.A31V|ENST00000585038,p.A31V|ENST00000207726,p.A31V|ENST00000424046,p.A31V|ENST00000414725,p.A31V|uc002znh.2,p.A31V|uc002znk.1,p.A31V|uc011agm.1,p.A31V|NM_001136004,p.A31V|uc011agl.2,p.A31V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011agm.1	nonsynonymous SNV	exon2	c.C92T	p.A31V	FVQATTCKGTLKAFQELCDHLELKP	FVQATTCKGTLKVFQELCDHLELKP	9.0	6.0	unscreened	-	1913_22:18389487-18389487 G>A_FVQATTCKGTLKVFQELCDHLELKP
1:231906800-231906800 C>T	1.0	1913	MELANOMA	-	-	-	-	DISC1	ENST00000295051,p.P540S	retained_intron, protein_coding	ENST00000295051	nonsynonymous SNV	exon6	c.C1618T	p.P540S	ASAGQIPFHAEPPETIRRCV	ASAGQIPFHAEPSETIRRCV	6.0	6.0	unscreened	-	1913_1:231906800-231906800 C>T_ASAGQIPFHAEPSETIRRCV
3:194169327-194169327 G>A	1.0	1913	MELANOMA	-	-	-	-	ATP13A3	ENST00000439040,p.P337S|NM_024524,p.P337S|uc003fty.4,p.P337S|uc003ftz.1,p.P43S|ENST00000256031,p.P337S	retained_intron, protein_coding	uc003ftz.1	nonsynonymous SNV	exon2	c.C127T	p.P43S	ESVPVTKTNLPNPSVDVKGIGDELY	ESVPVTKTNLPNSSVDVKGIGDELY	9.0	2.0	unscreened	-	1913_3:194169327-194169327 G>A_ESVPVTKTNLPNSSVDVKGIGDELY
11:121038805-121038805 G>A	1.0	1913	MELANOMA	-	-	-	-	TECTA	ENST00000392793,p.E1877K|ENST00000264037,p.E1877K|uc010rzo.2,p.E1877K|NM_005422,p.E1877K	protein_coding, processed_transcript	uc010rzo.2	nonsynonymous SNV	exon18	c.G5629A	p.E1877K	GTHIMYKNTLWIESANNTGNIITRD	GTHIMYKNTLWIKSANNTGNIITRD	2.0	9.0	unscreened	-	1913_11:121038805-121038805 G>A_GTHIMYKNTLWIKSANNTGNIITRD
11:120200833-120200833 C>T	1.0	1913	MELANOMA	-	-	-	-	TMEM136	ENST00000375095,p.A116V|uc001pxi.2,p.A15V|uc009zas.2,p.A15V|ENST00000314475,p.A138V|NM_001198672,p.A15V|NM_001198671,p.A116V|NM_001198673,p.A15V|uc001pxh.2,p.A116V|NM_001198675,p.A15V|uc001pxj.3,p.A138V|uc021qrl.1,p.A15V|NM_001198670,p.A138V	protein_coding, processed_transcript	uc021qrl.1	nonsynonymous SNV	exon3	c.C44T	p.A15V	AHHTLSILGIIMALVLGESGTEVNA	AHHTLSILGIIMVLVLGESGTEVNA	6.0	9.0	unscreened	-	1913_11:120200833-120200833 C>T_AHHTLSILGIIMVLVLGESGTEVNA
2:207611029-207611029 C>T	1.0	1913	MELANOMA	-	-	-	-	MDH1B	uc002vbs.3,p.M446I|uc021vvm.1,p.M348I|uc010fui.3,p.M446I|ENST00000374412,p.M446I|ENST00000392214,p.M233I|NM_001039845,p.M446I|ENST00000432911,p.M233I|NM_001282940,p.M446I|ENST00000449792,p.M348I|ENST00000454776,p.M446I	retained_intron, protein_coding, nonsense_mediated_decay	uc021vvm.1	nonsynonymous SNV	exon7	c.G1044A	p.M348I	KDVEISEQIMTRMTSDLIQEKLVAL	KDVEISEQIMTRITSDLIQEKLVAL	5.0	3.0	unscreened	-	1913_2:207611029-207611029 C>T_KDVEISEQIMTRITSDLIQEKLVAL
19:23328762-23328762 C>T	1.0	1913	MELANOMA	-	-	-	-	ZNF730	ENST00000597761,p.H306Y|uc031rkc.1,p.H306Y|NM_001277403,p.H306Y	protein_coding	uc031rkc.1	nonsynonymous SNV	exon4	c.C916T	p.H306Y	NQSSNLTEHKKIHTKEQPYKCEKCG	NQSSNLTEHKKIYTKEQPYKCEKCG	5.0	9.0	unscreened	-	1913_19:23328762-23328762 C>T_NQSSNLTEHKKIYTKEQPYKCEKCG
8:95502194-95502194 G>A	1.0	1913	MELANOMA	-	-	-	-	KIAA1429	uc003ygo.2,p.P1753S|ENST00000297591,p.P1753S|NM_015496,p.P1753S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ygo.2	nonsynonymous SNV	exon23	c.C5257T	p.P1753S	RGGQSNFNRGPLPPLRPLSSTGYRP	RGGQSNFNRGPLSPLRPLSSTGYRP	8.0	4.0	unscreened	-	1913_8:95502194-95502194 G>A_RGGQSNFNRGPLSPLRPLSSTGYRP
22:43026934-43026934 G>A	1.0	1913	MELANOMA	-	-	-	-	CYB5R3	uc003bcy.3,p.P73L|ENST00000438270,p.P73L|ENST00000361740,p.P129L|NM_000398,p.P96L|NM_001129819,p.P73L|NM_001171661,p.P73L|ENST00000407623,p.P73L|uc011aps.2,p.P129L|ENST00000402438,p.P73L|uc021wqn.1,p.P73L|ENST00000396303,p.P73L|NM_007326,p.P73L|ENST00000407332,p.P73L|uc003bcz.3,p.P96L|NM_001171660,p.P129L|uc003bcx.3,p.P73L|ENST00000352397,p.P96L	retained_intron, protein_coding	uc021wqn.1	nonsynonymous SNV	exon5	c.C218T	p.P73L	RIDGNLVVRPYTPISSDDDKGFVDL	RIDGNLVVRPYTLISSDDDKGFVDL	10.0	6.0	unscreened	-	1913_22:43026934-43026934 G>A_RIDGNLVVRPYTLISSDDDKGFVDL
19:10789339-10789339 C>T	1.0	1913	MELANOMA	-	-	-	-	ILF3	NM_001137673,p.L204F|uc002mpp.3,p.L25F|ENST00000589998,p.L204F|NM_017620,p.L204F|ENST00000420083,p.L204F|uc002mpm.2,p.L204F|NM_012218,p.L204F|uc002mpl.2,p.L204F|uc002mpo.3,p.L204F|NM_153464,p.L204F|NM_004516,p.L204F|ENST00000250241,p.L204F|ENST00000407004,p.L204F|ENST00000590009,p.L204F|ENST00000592763,p.L204F|ENST00000318511,p.L204F|ENST00000588657,p.L204F|uc002mpk.2,p.L204F|uc002mpn.3,p.L204F|ENST00000449870,p.L204F|ENST00000590261,p.L204F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mpp.3	nonsynonymous SNV	exon2	c.C73T	p.L25F	NDPPDVLDRQKCLAALASLRHAKWF	NDPPDVLDRQKCFAALASLRHAKWF	10.0	3.0	unscreened	-	1913_19:10789339-10789339 C>T_NDPPDVLDRQKCFAALASLRHAKWF
16:90038158-90038158 C>T	1.0	1913	MELANOMA	-	-	-	-	CENPBD1	uc002fpr.3,p.R58Q|ENST00000314994,p.R58Q|NM_145039,p.R58Q	protein_coding, processed_transcript	uc002fpr.3	nonsynonymous SNV	exon1	c.G173A	p.R58Q	ALDLAISTVATIRDSKEKIKASSQI	ALDLAISTVATIQDSKEKIKASSQI	7.0	9.0	unscreened	-	1913_16:90038158-90038158 C>T_ALDLAISTVATIQDSKEKIKASSQI
16:2134343-2134343 C>T	1.0	1913	MELANOMA	-	-	-	1	TSC2	ENST00000382538,p.L1259F|uc002cop.3,p.L1130F|ENST00000353929,p.L1331F|NM_000548,p.L1374F|ENST00000439673,p.L1271F|uc002coq.3,p.L149F|NM_001114382,p.L1351F|ENST00000401874,p.L1307F|uc010uvw.2,p.L1259F|uc002coo.3,p.L1307F|uc002con.3,p.L1374F|ENST00000350773,p.L1351F|ENST00000219476,p.L1374F|ENST00000568454,p.L1318F|uc010uvv.2,p.L1271F|NM_001077183,p.L1307F|uc010bsd.3,p.L1351F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uvw.2	nonsynonymous SNV	exon31	c.C3775T	p.L1259F	VVSSEGGRPSVDLSFQPSQPLSKSS	VVSSEGGRPSVDFSFQPSQPLSKSS	9.0	9.0	unscreened	-	1913_16:2134343-2134343 C>T_VVSSEGGRPSVDFSFQPSQPLSKSS
9:112778279-112778279 C>T	1.0	1913	MELANOMA	-	-	-	-	PALM2-AKAP2	ENST00000555236,p.S181L|NM_007203,p.S181L|ENST00000413420,p.S413L|ENST00000374530,p.S181L|uc004bek.4,p.S181L|ENST00000302798,p.S181L|NM_147150,p.S181L|ENST00000510514,p.S181L|uc004bej.4,p.S181L|uc004bei.2,p.S413L	protein_coding, processed_transcript, nonsense_mediated_decay	uc004bek.4	nonsynonymous SNV	exon7	c.C542T	p.S181L	WENVLLKEGESASNATETSGPDMTI	WENVLLKEGESALNATETSGPDMTI	7.0	9.0	unscreened	-	1913_9:112778279-112778279 C>T_WENVLLKEGESALNATETSGPDMTI
17:21208412-21208412 C>T	0.0	1913	MELANOMA	-	-	-	-	MAP2K3	ENST00000342679,p.S249F|NM_002756,p.S220F|NM_145109,p.S249F|uc002gys.3,p.S249F|uc021tsr.1,p.S220F|uc021tsq.1,p.S220F|ENST00000361818,p.S220F|uc002gyt.3,p.S220F|ENST00000316920,p.S220F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tsr.1	nonsynonymous SNV	exon10	c.C659T	p.S220F	NPELNQKGYNVKSDVWSLGITMIEM	NPELNQKGYNVKFDVWSLGITMIEM	10.0	1.0	unscreened	-	1913_17:21208412-21208412 C>T_NPELNQKGYNVKFDVWSLGITMIEM
16:76569483-76569483 C>T	1.0	1913	MELANOMA	-	-	-	-	CNTNAP4	ENST00000478060,p.R860W|uc002fex.1,p.R936W|uc002fev.1,p.R797W|ENST00000476707,p.R936W|ENST00000377504,p.R884W|uc010chb.1,p.R860W|ENST00000307431,p.R932W|NM_138994,p.R860W	retained_intron, protein_coding, processed_transcript, TEC	uc010chb.1	nonsynonymous SNV	exon17	c.C2578T	p.R860W	TATRQRGFLGCIRSLQLNGMTLDLE	TATRQRGFLGCIWSLQLNGMTLDLE	2.0	2.0	unscreened	-	1913_16:76569483-76569483 C>T_TATRQRGFLGCIWSLQLNGMTLDLE
11:119149238-119149238 T>C	1.0	1913	MELANOMA	-	-	ID=COSM1724993;OCCURENCE=2(haematopoietic_and_lymphoid_tissue)	1	CBL	ENST00000264033,p.C416R|uc001pwe.4,p.C416R|NM_005188,p.C416R	protein_coding	uc001pwe.4	nonsynonymous SNV	exon9	c.T1246C	p.C416R	CLTSWQESEGQGCPFCRCEIKGTEP	CLTSWQESEGQGRPFCRCEIKGTEP	6.0	9.0	unscreened	-	1913_11:119149238-119149238 T>C_CLTSWQESEGQGRPFCRCEIKGTEP
1:231906800-231906800 C>T	1.0	1913	MELANOMA	-	-	-	-	DISC1	ENST00000535944,p.P540S	retained_intron, protein_coding	ENST00000535944	nonsynonymous SNV	exon6	c.C1618T	p.P540S	ASAGQIPFHAEPPETIRREVRHQTA	ASAGQIPFHAEPSETIRREVRHQTA	6.0	6.0	unscreened	-	1913_1:231906800-231906800 C>T_ASAGQIPFHAEPSETIRREVRHQTA
7:97939817-97939817 C>T	1.0	1913	MELANOMA	-	-	-	-	BAIAP2L1	NM_018842,p.D299N|ENST00000005260,p.D299N|uc003upj.3,p.D299N	retained_intron, protein_coding, processed_transcript	uc003upj.3	nonsynonymous SNV	exon9	c.G895A	p.D299N	APSGRAYTSPLIDMFNNPATAAPNS	APSGRAYTSPLINMFNNPATAAPNS	5.0	5.0	unscreened	-	1913_7:97939817-97939817 C>T_APSGRAYTSPLINMFNNPATAAPNS
5:142513550-142513550 G>A	1.0	1913	MELANOMA	-	-	ID=COSM1063636;OCCURENCE=1(endometrium)	1	ARHGAP26	NM_001135608,p.D573N|NM_015071,p.D573N|ENST00000424007,p.D18N|ENST00000274498,p.D573N|uc003lmt.3,p.D573N|ENST00000419676,p.D19N|uc011dbj.2,p.D573N|ENST00000378004,p.D573N|uc003lmw.3,p.D573N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dbj.2	nonsynonymous SNV	exon19	c.G1717A	p.D573N	IENHEKIFNTVPDMPLTNAQLHLSR	IENHEKIFNTVPNMPLTNAQLHLSR	6.0	3.0	unscreened	-	1913_5:142513550-142513550 G>A_IENHEKIFNTVPNMPLTNAQLHLSR
17:18149132-18149132 G>C	1.0	1913	MELANOMA	-	-	-	-	FLII	uc002gsr.2,p.F1143L|ENST00000327031,p.F1143L|NM_001256264,p.F1132L|uc031qzd.1,p.F1132L|ENST00000577398,p.F54L|NM_002018,p.F1143L|ENST00000545457,p.F1088L|ENST00000577485,p.F102L|uc002gsq.2,p.F1014L|uc010vxn.2,p.F1112L|uc010vxo.2,p.F1088L|ENST00000379450,p.F1057L|ENST00000579294,p.F1132L|NM_001256265,p.F1088L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qzd.1	nonsynonymous SNV	exon27	c.C3396G	p.F1132L	KQVINEGEEPENFFWVGIGAQKPYD	KQVINEGEEPENLFWVGIGAQKPYD	10.0	4.0	unscreened	-	1913_17:18149132-18149132 G>C_KQVINEGEEPENLFWVGIGAQKPYD
19:613308-613308 G>A	1.0	1913	MELANOMA	-	-	-	-	HCN2	ENST00000251287,p.D549N|uc002lpe.3,p.D549N|NM_001194,p.D549N	protein_coding	uc002lpe.3	nonsynonymous SNV	exon6	c.G1645A	p.D549N	KLVASMPLFANADPNFVTAMLTKLK	KLVASMPLFANANPNFVTAMLTKLK	3.0	8.0	unscreened	-	1913_19:613308-613308 G>A_KLVASMPLFANANPNFVTAMLTKLK
22:42416083-42416083 T>G	1.0	1913	MELANOMA	-	-	-	-	WBP2NL	ENST00000412113,p.V130G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000412113	nonsynonymous SNV	exon4	c.T389G	p.V130G	RNGDAIEFAQLMVKAASAVIVYGAP	RNGDAIEFAQLMGKAASAVIVYGAP	5.0	4.0	unscreened	-	1913_22:42416083-42416083 T>G_RNGDAIEFAQLMGKAASAVIVYGAP
19:14817564-14817564 C>T	1.0	1913	MELANOMA	-	-	-	-	ZNF333	ENST00000601134,p.P104L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000601134	nonsynonymous SNV	exon5	c.C311T	p.P104L	GGDTSAYSGPPQPMGGQGFWEQFLD	GGDTSAYSGPPQLMGGQGFWEQFLD	7.0	8.0	unscreened	-	1913_19:14817564-14817564 C>T_GGDTSAYSGPPQLMGGQGFWEQFLD
18:59854803-59854803 C>T	1.0	1913	MELANOMA	-	-	-	-	KIAA1468	ENST00000587725,p.S22L|uc010xel.2,p.S22L|ENST00000398130,p.S22L|ENST00000256858,p.S22L|uc002lik.1,p.S22L|NM_020854,p.S22L|uc002lil.3,p.S22L	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc010xel.2	nonsynonymous SNV	exon1	c.C65T	p.S22L	GSGGGVNPFLSDSDEDDDEVAATEE	GSGGGVNPFLSDLDEDDDEVAATEE	6.0	9.0	unscreened	-	1913_18:59854803-59854803 C>T_GSGGGVNPFLSDLDEDDDEVAATEE
8:144996829-144996829 G>T	1.0	1913	MELANOMA	-	-	-	-	PLEC	ENST00000527096,p.A2446D|ENST00000322810,p.A2560D|uc003zae.1,p.A2391D|uc003zad.2,p.A2423D|NM_201381,p.A2391D|NM_201380,p.A2560D|NM_201378,p.A2409D|ENST00000354589,p.A2423D|NM_201383,p.A2427D|uc003zac.1,p.A2427D|NM_000445,p.A2450D|ENST00000357649,p.A2427D|ENST00000345136,p.A2423D|ENST00000354958,p.A2401D|uc003zag.1,p.A2401D|uc003zaj.2,p.A2450D|uc003zab.1,p.A2423D|NM_201379,p.A2401D|NM_201382,p.A2423D|ENST00000436759,p.A2450D|NM_201384,p.A2423D|uc003zaf.1,p.A2560D|ENST00000356346,p.A2409D|ENST00000398774,p.A2391D|uc003zah.2,p.A2409D	retained_intron, protein_coding	uc003zaj.2	nonsynonymous SNV	exon32	c.C7349A	p.A2450D	EEIGEKLHRTELATQEKVTLVQTLE	EEIGEKLHRTELDTQEKVTLVQTLE	10.0	5.0	unscreened	-	1913_8:144996829-144996829 G>T_EEIGEKLHRTELDTQEKVTLVQTLE
14:50550677-50550677 C>T	0.0	1913	MELANOMA	-	-	-	-	C14orf183	ENST00000305273,p.G223R|NM_001014830,p.G223R|uc010tqk.2,p.G223R	protein_coding	uc010tqk.2	nonsynonymous SNV	exon5	c.G667A	p.G223R	ESLLDVLVGGFWGVPHTAPPRLQEA	ESLLDVLVGGFWRVPHTAPPRLQEA	1.0	9.0	unscreened	-	1913_14:50550677-50550677 C>T_ESLLDVLVGGFWRVPHTAPPRLQEA
16:67694228-67694228 G>A	1.0	1913	MELANOMA	-	-	-	-	ACD	uc002etp.4,p.L52F|ENST00000219251,p.L52F|uc002etq.4,p.L52F|ENST00000393919,p.L52F|NM_022914,p.L52F|NM_001082486,p.L52F|NM_001082487,p.L52F|uc002etr.4,p.L52F|uc010vjt.1,p.L42F	protein_coding	uc010vjt.1	nonsynonymous SNV	exon1	c.C124T	p.L42F	AQARGVRGRGLLLRPRPAKELPLPR	AQARGVRGRGLLFRPRPAKELPLPR	8.0	3.0	unscreened	-	1913_16:67694228-67694228 G>A_AQARGVRGRGLLFRPRPAKELPLPR
1:17313321-17313321 G>A	1.0	1913	MELANOMA	-	-	-	-	ATP13A2	ENST00000502418,p.R268C|uc001bac.2,p.R1028C|ENST00000341676,p.R1028C|NM_001141974,p.R1028C	retained_intron, protein_coding, processed_transcript	uc001bac.2	nonsynonymous SNV	exon26	c.C3082T	p.R1028C	ILAAAVSKGAPFRRPLYTNERARPV	ILAAAVSKGAPFCRPLYTNERARPV	9.0	4.0	unscreened	-	1913_1:17313321-17313321 G>A_ILAAAVSKGAPFCRPLYTNERARPV
14:34029364-34029364 G>A	1.0	1913	MELANOMA	-	-	-	-	NPAS3	ENST00000341321,p.G169E|NM_173159,p.G156E|ENST00000548645,p.G139E|ENST00000551492,p.G174E|ENST00000547068,p.G65E|ENST00000551634,p.G146E|ENST00000356141,p.G169E|NM_001165893,p.G139E|uc001wrw.3,p.G67E|uc001wrs.3,p.G156E|ENST00000546849,p.G79E|uc001wrt.3,p.G137E|NM_001164749,p.G169E|ENST00000346562,p.G137E|NM_022123,p.G137E|uc001wru.3,p.G169E|ENST00000357798,p.G156E|ENST00000551008,p.G67E|uc001wrv.3,p.G139E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wrw.3	nonsynonymous SNV	exon3	c.G200A	p.G67E	SLDGFVFALNQEGKFLYISETVSIY	SLDGFVFALNQEEKFLYISETVSIY	6.0	3.0	unscreened	-	1913_14:34029364-34029364 G>A_SLDGFVFALNQEEKFLYISETVSIY
5:180582565-180582565 T>C	0.0	1913	MELANOMA	-	-	-	-	OR2V2	ENST00000328275,p.L208P|uc011dhj.2,p.L208P|NM_206880,p.L208P	protein_coding	uc011dhj.2	nonsynonymous SNV	exon1	c.T623C	p.L208P	FEKVIFACCVFMLLFPFSIIVASYA	FEKVIFACCVFMPLFPFSIIVASYA	1.0	8.0	unscreened	-	1913_5:180582565-180582565 T>C_FEKVIFACCVFMPLFPFSIIVASYA
8:105510289-105510289 G>A	1.0	1913	MELANOMA	-	-	-	-	LRP12	NM_001135703,p.P145L|uc003yma.3,p.P164L|uc003ymb.3,p.P145L|NM_013437,p.P164L|ENST00000276654,p.P164L|ENST00000424843,p.P145L	retained_intron, protein_coding, processed_transcript	uc003ymb.3	nonsynonymous SNV	exon4	c.C434T	p.P145L	FRLAYFSGKSEEPNCACDQFRCGNG	FRLAYFSGKSEELNCACDQFRCGNG	7.0	7.0	unscreened	-	1913_8:105510289-105510289 G>A_FRLAYFSGKSEELNCACDQFRCGNG
7:20449240-20449240 T>C	1.0	1913	MELANOMA	-	-	-	-	ITGB8	uc003suu.3,p.C676R|uc011jyh.2,p.C541R|NM_002214,p.C676R|ENST00000222573,p.C676R|ENST00000537992,p.C541R	retained_intron, protein_coding, processed_transcript	uc011jyh.2	nonsynonymous SNV	exon14	c.T1621C	p.C541R	MEQQHYVDQTSECFSSPSYLRIFFI	MEQQHYVDQTSERFSSPSYLRIFFI	9.0	5.0	unscreened	-	1913_7:20449240-20449240 T>C_MEQQHYVDQTSERFSSPSYLRIFFI
12:52200791-52200791 C>T	1.0	1913	MELANOMA	-	-	-	-	SCN8A	NM_001177984,p.R1800C|uc001ryw.4,p.R1841C|ENST00000354534,p.R1841C|ENST00000545061,p.R1800C|uc010snl.3,p.R1800C|NM_014191,p.R1841C	protein_coding, processed_transcript	uc010snl.3	nonsynonymous SNV	exon26	c.C5398T	p.R1800C	LIAMDLPMVSGDRIHCLDILFAFTK	LIAMDLPMVSGDCIHCLDILFAFTK	5.0	1.0	unscreened	-	1913_12:52200791-52200791 C>T_LIAMDLPMVSGDCIHCLDILFAFTK
1:65131802-65131802 G>A	1.0	1913	MELANOMA	-	-	-	-	CACHD1	NM_020925,p.G729E|uc001dbp.1,p.G484E|ENST00000371073,p.G780E|NM_001293274,p.G484E|uc001dbo.1,p.G729E|uc001dbq.1,p.G484E|ENST00000290039,p.G729E	retained_intron, protein_coding, processed_transcript	uc001dbq.1	nonsynonymous SNV	exon16	c.G1451A	p.G484E	GLISLTGPYLDVGGAGYVVTISHTI	GLISLTGPYLDVEGAGYVVTISHTI	5.0	9.0	unscreened	-	1913_1:65131802-65131802 G>A_GLISLTGPYLDVEGAGYVVTISHTI
22:29445652-29445652 C>T	1.0	1913	MELANOMA	-	-	-	2	ZNRF3	ENST00000544604,p.P495S|ENST00000406323,p.P395S|ENST00000332811,p.P395S|ENST00000402174,p.P395S|NM_001206998,p.P495S|NM_032173,p.P395S|uc021wnq.1,p.P395S|uc003aeg.3,p.P495S	protein_coding	uc021wnq.1	nonsynonymous SNV	exon8	c.C1183T	p.P395S	EGQSPPSLAPRGPARAFPPSGSGSL	EGQSPPSLAPRGSARAFPPSGSGSL	6.0	7.0	unscreened	-	1913_22:29445652-29445652 C>T_EGQSPPSLAPRGSARAFPPSGSGSL
18:47563317-47563317 C>T	0.0	1913	MELANOMA	-	-	-	-	MYO5B	uc021ukb.1,p.G119R|NM_001080467,p.G120R|ENST00000285039,p.G120R|uc002leb.2,p.G120R	retained_intron, protein_coding, processed_transcript	uc021ukb.1	nonsynonymous SNV	exon4	c.G355A	p.G119R	VAINPYEQLPIYGQDVIYTYSGQNM	VAINPYEQLPIYRQDVIYTYSGQNM	1.0	9.0	unscreened	-	1913_18:47563317-47563317 C>T_VAINPYEQLPIYRQDVIYTYSGQNM
6:348904-348904 C>T	0.0	1913	MELANOMA	-	-	-	-	DUSP22	ENST00000604971,p.P88S|uc011dhn.1,p.P191S|ENST00000603453,p.P88S|ENST00000419235,p.P191S|ENST00000605315,p.P88S|NM_001286555,p.P191S|uc003msy.1,p.P148S	protein_coding	uc011dhn.1	nonsynonymous SNV	exon7	c.C571T	p.P191S	EPQPGARRWSSFPALAPLTYDNYTT	EPQPGARRWSSFSALAPLTYDNYTT	6.0	1.0	unscreened	-	1913_6:348904-348904 C>T_EPQPGARRWSSFSALAPLTYDNYTT
16:31374349-31374349 G>A	0.0	1913	MELANOMA	-	-	-	-	ITGAX	uc002ebt.3,p.E485K|ENST00000562522,p.E485K|uc002ebu.1,p.E485K|ENST00000268296,p.E485K|NM_001286375,p.E485K|NM_000887,p.E485K|uc010vfk.1,p.E135K	retained_intron, protein_coding, processed_transcript	uc010vfk.1	nonsynonymous SNV	exon4	c.G403A	p.E135K	TDLVLIGAPHYYEQTRGGQVSVCPL	TDLVLIGAPHYYKQTRGGQVSVCPL	5.0	8.0	unscreened	-	1913_16:31374349-31374349 G>A_TDLVLIGAPHYYKQTRGGQVSVCPL
1:160105752-160105752 C>T	0.0	1913	MELANOMA	-	-	-	-	ATP1A2	NM_000702,p.T803I|uc001fvd.3,p.T539I|uc001fvc.3,p.T803I|ENST00000361216,p.T803I|uc001fvb.2,p.T803I|ENST00000392233,p.T803I	protein_coding, processed_transcript	uc001fvd.3	nonsynonymous SNV	exon10	c.C1616T	p.T539I	IIANIPLPLGTVTILCIDLGTDMVP	IIANIPLPLGTVIILCIDLGTDMVP	1.0	3.0	unscreened	-	1913_1:160105752-160105752 C>T_IIANIPLPLGTVIILCIDLGTDMVP
19:40541451-40541451 G>A	1.0	1913	MELANOMA	-	-	-	-	ZNF780B	ENST00000221355,p.H291Y|ENST00000434248,p.H439Y|NM_001005851,p.H439Y|uc002omv.3,p.H291Y|uc002omu.3,p.H439Y	retained_intron, protein_coding, non_stop_decay	uc002omv.3	nonsynonymous SNV	exon6	c.C871T	p.H291Y	NRGANLIQHQKIHSNEKPFVCRECE	NRGANLIQHQKIYSNEKPFVCRECE	5.0	5.0	unscreened	-	1913_19:40541451-40541451 G>A_NRGANLIQHQKIYSNEKPFVCRECE
3:58512230-58512230 C>T	1.0	1913	MELANOMA	-	-	-	-	ACOX2	ENST00000459701,p.E423K|uc003dkl.3,p.E437K|NM_003500,p.E437K|ENST00000302819,p.E437K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003dkl.3	nonsynonymous SNV	exon10	c.G1309A	p.E437K	SLVTKLSASCTYEGENTVLYLQVAR	SLVTKLSASCTYKGENTVLYLQVAR	5.0	1.0	unscreened	-	1913_3:58512230-58512230 C>T_SLVTKLSASCTYKGENTVLYLQVAR
20:9525055-9525055 C>T	0.0	1913	MELANOMA	-	-	-	-	PAK7	NM_020341,p.M610I|uc002wnj.2,p.M610I|uc002wnk.2,p.M610I|ENST00000353224,p.M610I|NM_177990,p.M610I|ENST00000378429,p.M610I|ENST00000378423,p.M610I|uc002wnl.2,p.M610I	protein_coding	uc002wnl.2	nonsynonymous SNV	exon9	c.G1830A	p.M610I	PKRKSLVGTPYWMAPEVISRLPYGT	PKRKSLVGTPYWIAPEVISRLPYGT	1.0	5.0	unscreened	-	1913_20:9525055-9525055 C>T_PKRKSLVGTPYWIAPEVISRLPYGT
6:55264062-55264062 C>T	0.0	1913	MELANOMA	-	-	-	-	GFRAL	NM_207410,p.S346F|ENST00000340465,p.S346F|uc003pcm.1,p.S346F	protein_coding	uc003pcm.1	nonsynonymous SNV	exon7	c.C1037T	p.S346F	KHANKITLTGFHSPFNGEVIYAAMC	KHANKITLTGFHFPFNGEVIYAAMC	1.0	8.0	unscreened	-	1913_6:55264062-55264062 C>T_KHANKITLTGFHFPFNGEVIYAAMC
1:214837031-214837031 C>T	1.0	1913	MELANOMA	-	-	-	-	CENPF	uc001hkm.3,p.P3080L|ENST00000366955,p.P3080L|NM_016343,p.P3080L	protein_coding, processed_transcript	uc001hkm.3	nonsynonymous SNV	exon20	c.C9239T	p.P3080L	KSVPVNNLPERSPTDSPREGLRVKR	KSVPVNNLPERSLTDSPREGLRVKR	10.0	8.0	unscreened	-	1913_1:214837031-214837031 C>T_KSVPVNNLPERSLTDSPREGLRVKR
17:10538200-10538200 G>A	1.0	1913	MELANOMA	-	-	-	-	MYH3	ENST00000583535,p.S1438F|uc002gmq.2,p.S1438F|ENST00000226209,p.S1438F|NM_002470,p.S1438F	retained_intron, protein_coding	uc002gmq.2	nonsynonymous SNV	exon31	c.C4313T	p.S1438F	VEDLMVDVERANSLAAALDKKQRNF	VEDLMVDVERANFLAAALDKKQRNF	6.0	5.0	unscreened	-	1913_17:10538200-10538200 G>A_VEDLMVDVERANFLAAALDKKQRNF
16:70582324-70582324 A>G	1.0	1913	MELANOMA	-	-	-	-	SF3B3	ENST00000302516,p.T461A|uc002ezf.3,p.T461A|NM_012426,p.T461A	retained_intron, protein_coding, nonsense_mediated_decay	uc002ezf.3	nonsynonymous SNV	exon11	c.A1381G	p.T461A	VSELPGNPNAVWTVRRHIEDEFDAY	VSELPGNPNAVWAVRRHIEDEFDAY	10.0	1.0	unscreened	-	1913_16:70582324-70582324 A>G_VSELPGNPNAVWAVRRHIEDEFDAY
19:13879658-13879658 C>T	1.0	1913	MELANOMA	-	-	-	-	MRI1	ENST00000319545,p.R202C|uc002mxf.3,p.R202C|NM_032285,p.R202C|NM_001031727,p.R249C|uc002mxe.3,p.R249C|ENST00000040663,p.R249C	retained_intron, protein_coding	uc002mxf.3	nonsynonymous SNV	exon5	c.C604T	p.R202C	HRGVSAVVVGADRVVANGDTANKVG	HRGVSAVVVGADCVVANGDTANKVG	8.0	1.0	unscreened	-	1913_19:13879658-13879658 C>T_HRGVSAVVVGADCVVANGDTANKVG
6:128561284-128561284 G>A	1.0	1913	MELANOMA	-	-	-	1	PTPRK	NM_001291982,p.H197Y|ENST00000368207,p.H197Y|NM_001291984,p.H197Y|uc011ebv.1,p.H197Y|uc003qbj.3,p.H197Y|ENST00000532331,p.H197Y|NM_001291981,p.H197Y|ENST00000368215,p.H197Y|uc010kfc.3,p.H197Y|ENST00000368210,p.H197Y|NM_001135648,p.H197Y|ENST00000368227,p.H197Y|ENST00000368213,p.H197Y|NM_002844,p.H197Y|uc011ebu.2,p.H197Y|ENST00000368226,p.H197Y|uc003qbl.1,p.H67Y|uc003qbk.3,p.H197Y|NM_001291983,p.H68Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ebv.1	nonsynonymous SNV	exon5	c.C589T	p.H197Y	IQVLSYPCDKSPHFLRLGDVEVNAG	IQVLSYPCDKSPYFLRLGDVEVNAG	1.0	8.0	unscreened	-	1913_6:128561284-128561284 G>A_IQVLSYPCDKSPYFLRLGDVEVNAG
1:39895700-39895700 C>T	1.0	1913	MELANOMA	-	-	-	-	MACF1	ENST00000567887,p.P5734L|uc031pmc.1,p.P3635L|uc001cdc.2,p.P3505L|NM_012090,p.P3635L|ENST00000564288,p.P5697L|ENST00000289893,p.P4137L|ENST00000539005,p.P3505L|uc031pmd.1,p.P4137L|uc001cda.1,p.P3522L|uc021olt.1,p.P3635L|ENST00000317713,p.P3635L|ENST00000372915,p.P5593L|ENST00000361689,p.P3635L|ENST00000545844,p.P3635L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pmd.1	nonsynonymous SNV	exon29	c.C12410T	p.P4137L	VEEELATSGGQSPTGEQIPQFQQRQ	VEEELATSGGQSLTGEQIPQFQQRQ	10.0	3.0	unscreened	-	1913_1:39895700-39895700 C>T_VEEELATSGGQSLTGEQIPQFQQRQ
16:70582324-70582324 A>G	1.0	1913	MELANOMA	-	-	-	-	SF3B3	ENST00000567635,p.T82A	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000567635	nonsynonymous SNV	exon3	c.A244G	p.T82A	VSELPGNPNAVWTVRRHIEGGW	VSELPGNPNAVWAVRRHIEGGW	10.0	1.0	unscreened	-	1913_16:70582324-70582324 A>G_VSELPGNPNAVWAVRRHIEGGW
5:140720811-140720811 C>T	1.0	1913	MELANOMA	-	-	-	-	PCDHGA2	NM_018915,p.S758F|NM_032009,p.S758F|uc011dao.2,p.S758F|ENST00000394576,p.S758F|uc003ljk.2,p.S758F	retained_intron, protein_coding	uc011dao.2	nonsynonymous SNV	exon1	c.C2273T	p.S758F	VRAFLQTYSHEVSLTADSRKSHLIF	VRAFLQTYSHEVFLTADSRKSHLIF	4.0	8.0	unscreened	-	1913_5:140720811-140720811 C>T_VRAFLQTYSHEVFLTADSRKSHLIF
19:12575748-12575748 G>A	1.0	1913	MELANOMA	-	-	-	-	ZNF709	ENST00000428311,p.H330Y|uc002mtx.4,p.H330Y|uc002mtw.4,p.H298Y|NM_152601,p.H330Y|ENST00000397732,p.H330Y|uc002mtv.4,p.H330Y	protein_coding, processed_transcript	uc002mtx.4	nonsynonymous SNV	exon4	c.C988T	p.H330Y	SFPSSFRKHERIHTGEKPYDCKECG	SFPSSFRKHERIYTGEKPYDCKECG	4.0	1.0	unscreened	-	1913_19:12575748-12575748 G>A_SFPSSFRKHERIYTGEKPYDCKECG
6:53784448-53784448 C>T	1.0	1913	MELANOMA	-	-	-	-	LRRC1	ENST00000370888,p.P420L|NM_018214,p.P420L|uc003pcd.1,p.P420L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003pcd.1	nonsynonymous SNV	exon12	c.C1259T	p.P420L	EKILTCVLLPQLPSEPTCQENLPRC	EKILTCVLLPQLLSEPTCQENLPRC	6.0	7.0	unscreened	-	1913_6:53784448-53784448 C>T_EKILTCVLLPQLLSEPTCQENLPRC
10:76741587-76741587 G>A	1.0	1913	MELANOMA	-	-	-	1	KAT6B	uc001jwm.2,p.M466I|ENST00000372714,p.M466I|ENST00000287239,p.M758I|NM_012330,p.M758I|ENST00000372725,p.M466I|uc031pvy.1,p.M575I|NM_001256469,p.M466I|ENST00000372711,p.M575I|ENST00000372724,p.M466I|uc001jwn.2,p.M758I|NM_001256468,p.M575I	protein_coding, processed_transcript	uc031pvy.1	nonsynonymous SNV	exon11	c.G1725A	p.M575I	PKLYLCEFCLKYMKSKNILLRHSKK	PKLYLCEFCLKYIKSKNILLRHSKK	5.0	7.0	unscreened	-	1913_10:76741587-76741587 G>A_PKLYLCEFCLKYIKSKNILLRHSKK
11:121008405-121008405 G>A	1.0	1913	MELANOMA	0.0005	-	-	-	TECTA	ENST00000392793,p.E1073K|uc010rzo.2,p.E1073K|NM_005422,p.E1073K|ENST00000264037,p.E1073K	protein_coding, processed_transcript	uc010rzo.2	nonsynonymous SNV	exon10	c.G3217A	p.E1073K	CYCSGTDNRVHCETIPCKDDEYCME	CYCSGTDNRVHCKTIPCKDDEYCME	2.0	9.0	unscreened	-	1913_11:121008405-121008405 G>A_CYCSGTDNRVHCKTIPCKDDEYCME
3:42906658-42906658 C>T	0.0	1913	MELANOMA	-	-	-	-	ACKR2	ENST00000422265,p.P222S|uc003cme.3,p.P222S|uc003cmf.3,p.P222S|ENST00000273145,p.P222S|ENST00000442925,p.P222S|uc021wwm.1,p.P222S|NM_001296,p.P222S	protein_coding, processed_transcript	uc021wwm.1	nonsynonymous SNV	exon1	c.C664T	p.P222S	LRFQQNLLGFLLPLLAMIFFYSRIG	LRFQQNLLGFLLSLLAMIFFYSRIG	3.0	3.0	unscreened	-	1913_3:42906658-42906658 C>T_LRFQQNLLGFLLSLLAMIFFYSRIG
2:209163441-209163441 C>T	1.0	1913	MELANOMA	-	-	-	-	PIKFYVE	ENST00000452564,p.P330S|uc002vcx.3,p.P244S|uc002vcy.1,p.P330S|NM_152671,p.P233S|NM_015040,p.P330S|ENST00000392202,p.P233S|ENST00000308862,p.P244S|ENST00000264380,p.P330S|uc002vcw.3,p.P330S|ENST00000407449,p.P330S|uc002vcv.3,p.P233S|uc002vcz.3,p.P330S|NM_001178000,p.P330S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002vcz.3	nonsynonymous SNV	exon8	c.C988T	p.P330S	SPMVPSYETSVSPQANRTYVRTETT	SPMVPSYETSVSSQANRTYVRTETT	7.0	5.0	unscreened	-	1913_2:209163441-209163441 C>T_SPMVPSYETSVSSQANRTYVRTETT
1:233134990-233134990 C>T	1.0	1913	MELANOMA	-	-	ID=COSM1261660;OCCURENCE=1(oesophagus)	-	PCNXL2	uc001hvm.2,p.D301N|uc001hvk.1,p.D474N|uc001hvl.2,p.D1822N|NM_014801,p.D1822N|ENST00000344698,p.D474N|ENST00000258229,p.D1822N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001hvm.2	nonsynonymous SNV	exon17	c.G901A	p.D301N	KQVLRNLINSSCDQPLGYPMYVSPL	KQVLRNLINSSCNQPLGYPMYVSPL	5.0	5.0	unscreened	-	1913_1:233134990-233134990 C>T_KQVLRNLINSSCNQPLGYPMYVSPL
21:34012058-34012058 G>A	1.0	1913	MELANOMA	-	-	-	-	SYNJ1	NM_001160306,p.A1160V|ENST00000322229,p.A1207V|uc002yqg.2,p.A1160V|uc011ads.1,p.A1160V|uc002yqi.2,p.A1246V|NM_203446,p.A1246V|ENST00000382499,p.A1246V|NM_003895,p.A1246V|ENST00000382491,p.A1160V|ENST00000357345,p.A1191V|ENST00000433931,p.A1246V|uc002yqf.2,p.A1191V|uc002yqh.2,p.A1246V|NM_001160302,p.A1191V	retained_intron, protein_coding, processed_transcript	uc011ads.1	nonsynonymous SNV	exon25	c.C3479T	p.A1160V	RPTIPPRAGVISAPQSHARASAGRL	RPTIPPRAGVISVPQSHARASAGRL	5.0	7.0	unscreened	-	1913_21:34012058-34012058 G>A_RPTIPPRAGVISVPQSHARASAGRL
15:34160047-34160047 G>A	1.0	1913	MELANOMA	-	-	ID=COSM1245855;OCCURENCE=1(oesophagus)	-	AVEN	NM_020371,p.P208S|ENST00000306730,p.P208S|uc001zhj.3,p.P208S	protein_coding, processed_transcript, nonsense_mediated_decay	uc001zhj.3	nonsynonymous SNV	exon5	c.C622T	p.P208S	LNVAAELVQGTVPLEVPQVKPKRTD	LNVAAELVQGTVSLEVPQVKPKRTD	6.0	4.0	unscreened	-	1913_15:34160047-34160047 G>A_LNVAAELVQGTVSLEVPQVKPKRTD
19:36530397-36530397 T>G	1.0	1913	MELANOMA	-	-	-	-	THAP8	uc010xtb.1,p.Q124P|NM_152658,p.Q167P|uc002oda.1,p.Q167P|uc031rki.1,p.Q167P|ENST00000538849,p.Q22P|ENST00000292894,p.Q167P	protein_coding, processed_transcript, nonsense_mediated_decay	uc031rki.1	nonsynonymous SNV	exon3	c.A500C	p.Q167P	PTPERSQPEVPAQQAQTGLGPVLGA	PTPERSQPEVPAPQAQTGLGPVLGA	7.0	1.0	unscreened	-	1913_19:36530397-36530397 T>G_PTPERSQPEVPAPQAQTGLGPVLGA
14:21161784-21161784 C>T	1.0	1913	MELANOMA	-	-	-	-	ANG	ENST00000336811,p.P21S|uc021rok.1,p.P21S|uc001vxw.4,p.P21S|uc001vxz.3,p.P21S|ENST00000397990,p.P21S|NM_001145,p.P21S|NM_001097577,p.P21S	protein_coding, processed_transcript	uc021rok.1	nonsynonymous SNV	exon1	c.C61T	p.P21S	LLVFVLGLGLTPPTLAQDNSRYTHF	LLVFVLGLGLTPSTLAQDNSRYTHF	7.0	9.0	unscreened	-	1913_14:21161784-21161784 C>T_LLVFVLGLGLTPSTLAQDNSRYTHF
15:22851054-22851054 C>T	1.0	1913	MELANOMA	-	-	-	-	TUBGCP5	uc010axz.1,p.P11S	retained_intron, protein_coding, processed_transcript	uc010axz.1	nonsynonymous SNV	exon2	c.C31T	p.P11S	MSSGPLTCLTPCTRPFLNMTMLE	MSSGPLTCLTSCTRPFLNMTMLE	7.0	1.0	unscreened	-	1913_15:22851054-22851054 C>T_MSSGPLTCLTSCTRPFLNMTMLE
20:34763552-34763552 C>T	1.0	1913	MELANOMA	-	-	-	-	EPB41L1	uc002xey.3,p.S86L|uc002xew.3,p.S24L|uc002xez.4,p.S24L|uc010zvo.1,p.S86L|uc002xev.3,p.S86L|uc002xfb.3,p.S86L|ENST00000373945,p.S24L|NM_012156,p.S86L|NM_001258330,p.S55L|uc002xeu.3,p.S24L|ENST00000202028,p.S24L|ENST00000373950,p.S24L|ENST00000373946,p.S55L|NM_001258331,p.S24L|ENST00000430276,p.S24L|ENST00000441639,p.S24L|NM_001258329,p.S86L|ENST00000432589,p.S24L|ENST00000447825,p.S86L|uc002xex.3,p.S55L|NM_177996,p.S24L|ENST00000373941,p.S86L|ENST00000452261,p.S86L|ENST00000406771,p.S86L|ENST00000338074,p.S86L	protein_coding, processed_transcript	uc010zvo.1	nonsynonymous SNV	exon3	c.C257T	p.S86L	LSERTTPSKAQKSPQKIAKKYKSAI	LSERTTPSKAQKLPQKIAKKYKSAI	7.0	5.0	unscreened	-	1913_20:34763552-34763552 C>T_LSERTTPSKAQKLPQKIAKKYKSAI
7:17370395-17370395 C>T	1.0	1913	MELANOMA	-	-	-	-	AHR	uc011jxz.1,p.P197L|ENST00000463496,p.P197L|ENST00000242057,p.P197L|NM_001621,p.P197L	protein_coding, processed_transcript, nonsense_mediated_decay	uc011jxz.1	nonsynonymous SNV	exon6	c.C590T	p.P197L	ESGQGIEEATGLPQTVVCYNPDQIP	ESGQGIEEATGLLQTVVCYNPDQIP	9.0	3.0	unscreened	-	1913_7:17370395-17370395 C>T_ESGQGIEEATGLLQTVVCYNPDQIP
9:34993255-34993255 C>T	1.0	1913	MELANOMA	-	-	-	-	DNAJB5	NM_001135005,p.L81F|uc011los.2,p.L81F|ENST00000454002,p.L81F|uc003zvs.4,p.L123F|ENST00000453597,p.L123F|ENST00000335998,p.L43F|ENST00000539059,p.L45F|NM_001135004,p.L123F	protein_coding, nonsense_mediated_decay	uc011los.2	nonsynonymous SNV	exon2	c.C241T	p.L81F	PVAVMGKDYYKILGIPSGANEDEIK	PVAVMGKDYYKIFGIPSGANEDEIK	8.0	3.0	unscreened	-	1913_9:34993255-34993255 C>T_PVAVMGKDYYKIFGIPSGANEDEIK
16:4752150-4752150 G>A	1.0	1913	MELANOMA	-	-	-	-	ANKS3	ENST00000592421,p.P214L|ENST00000450067,p.P115L|ENST00000586605,p.P148L|ENST00000586166,p.P115L|ENST00000446014,p.P192L|ENST00000304283,p.P321L|uc021tck.1,p.P214L|uc002cxi.2,p.P248L|NM_133450,p.P321L|uc002cxk.3,p.P192L|uc010uxs.2,p.P248L|uc002cxm.3,p.P115L|ENST00000585773,p.P248L|uc002cxj.2,p.P321L|uc021tcj.1,p.P192L|NM_001242929,p.P214L	retained_intron, protein_coding, nonsense_mediated_decay	uc021tck.1	nonsynonymous SNV	exon6	c.C641T	p.P214L	EEEGLCCRDVTSPINERDVESSSSS	EEEGLCCRDVTSLINERDVESSSSS	7.0	8.0	unscreened	-	1913_16:4752150-4752150 G>A_EEEGLCCRDVTSLINERDVESSSSS
8:90775121-90775121 C>T	1.0	1913	MELANOMA	-	-	-	-	RIPK2	uc003yee.3,p.P80S|NM_003821,p.P80S|ENST00000220751,p.P80S	retained_intron, protein_coding, nonsense_mediated_decay	uc003yee.3	nonsynonymous SNV	exon2	c.C238T	p.P80S	EILHKARFSYILPILGICNEPEFLG	EILHKARFSYILSILGICNEPEFLG	8.0	6.0	unscreened	-	1913_8:90775121-90775121 C>T_EILHKARFSYILSILGICNEPEFLG
5:5465314-5465314 T>A	1.0	1913	MELANOMA	-	-	-	-	ICE1	ENST00000296564,p.V1956D|NM_015325,p.V1956D|uc003jdm.5,p.V1956D	retained_intron, protein_coding, processed_transcript	uc003jdm.5	nonsynonymous SNV	exon13	c.T5867A	p.V1956D	KKPVMRDQEKEVVYEFSTTKKHLAE	KKPVMRDQEKEVDYEFSTTKKHLAE	7.0	9.0	unscreened	-	1913_5:5465314-5465314 T>A_KKPVMRDQEKEVDYEFSTTKKHLAE
19:47593281-47593281 A>G	1.0	1913	MELANOMA	-	-	-	-	ZC3H4	uc002pga.4,p.F220L|NM_015168,p.F220L|ENST00000253048,p.F220L	retained_intron, protein_coding, processed_transcript	uc002pga.4	nonsynonymous SNV	exon5	c.T658C	p.F220L	EEEDMGKEDYDDFTKELNQYRRAKE	EEEDMGKEDYDDLTKELNQYRRAKE	7.0	5.0	unscreened	-	1913_19:47593281-47593281 A>G_EEEDMGKEDYDDLTKELNQYRRAKE
16:71482622-71482622 G>A	1.0	1913	MELANOMA	-	-	-	-	ZNF23	uc002fad.3,p.R378W|ENST00000428724,p.R378W|uc002fai.3,p.R475W|uc010vmf.2,p.R378W|uc002fag.3,p.R378W|NM_145911,p.R436W|ENST00000564528,p.R378W|uc002faf.3,p.R436W|ENST00000393539,p.R436W|uc002fah.3,p.R436W|ENST00000417828,p.R436W|ENST00000357254,p.R436W	protein_coding, processed_transcript	uc010vmf.2	nonsynonymous SNV	exon3	c.C1132T	p.R378W	ECGKAFRCNSQFRQHLRIHTGEKPY	ECGKAFRCNSQFWQHLRIHTGEKPY	7.0	9.0	unscreened	-	1913_16:71482622-71482622 G>A_ECGKAFRCNSQFWQHLRIHTGEKPY
3:120673827-120673827 C>T	0.0	1913	MELANOMA	-	-	-	-	STXBP5L	ENST00000471262,p.A77V|ENST00000273666,p.A77V|uc011bji.2,p.A77V|ENST00000471454,p.A77V|NM_014980,p.A77V|ENST00000495504,p.A77V|ENST00000472879,p.A77V|ENST00000497029,p.A77V|ENST00000492541,p.A77V|uc003eec.4,p.A77V	protein_coding, nonsense_mediated_decay	uc011bji.2	nonsynonymous SNV	exon3	c.C230T	p.A77V	VRHGFPHQPTALAFDPVQKILAIGT	VRHGFPHQPTALVFDPVQKILAIGT	1.0	1.0	unscreened	-	1913_3:120673827-120673827 C>T_VRHGFPHQPTALVFDPVQKILAIGT
10:114925406-114925406 C>T	1.0	1913	MELANOMA	-	-	-	1	TCF7L2	NM_030756,p.P489L|ENST00000543371,p.P495L|uc010qrl.2,p.P472L|uc021pyn.1,p.P500L|uc001laf.4,p.P472L|ENST00000545257,p.P512L|uc001lac.4,p.P489L|uc010qrr.2,p.P427L|ENST00000542695,p.P228L|uc010qrs.2,p.P383L|uc001lae.4,p.P495L|NM_001146285,p.P472L|ENST00000369397,p.P489L|uc021pyg.1,p.P228L|uc010qrt.2,p.P383L|NM_001198526,p.P472L|NM_001146274,p.P495L|uc021pyi.1,p.P512L|uc021pyk.1,p.P477L|ENST00000536810,p.P495L|ENST00000355995,p.P512L	protein_coding, processed_transcript, nonsense_mediated_decay	uc021pyn.1	nonsynonymous SNV	exon14	c.C1499T	p.P500L	PSSDGSLLDSPPPSPNLLGSPPRDA	PSSDGSLLDSPPLSPNLLGSPPRDA	8.0	6.0	unscreened	-	1913_10:114925406-114925406 C>T_PSSDGSLLDSPPLSPNLLGSPPRDA
9:139370837-139370837 G>A	1.0	1913	MELANOMA	-	-	-	-	SEC16A	uc004chv.4,p.R38C|NM_001276418,p.R411C|uc010nbo.1,p.R411C|uc004chx.3,p.R411C|ENST00000371706,p.R233C|uc004chw.3,p.R411C|ENST00000313050,p.R411C|NM_014866,p.R411C|ENST00000290037,p.R233C|uc010nbn.3,p.R411C|ENST00000431893,p.R233C	protein_coding, processed_transcript	uc010nbo.1	nonsynonymous SNV	exon2	c.C1231T	p.R411C	DFDDFCSSPGLGRPPAPTHVGAGSL	DFDDFCSSPGLGCPPAPTHVGAGSL	9.0	7.0	unscreened	-	1913_9:139370837-139370837 G>A_DFDDFCSSPGLGCPPAPTHVGAGSL
15:101447444-101447444 C>T	1.0	1913	MELANOMA	-	-	-	-	ALDH1A3	uc002bwn.4,p.A451V|NM_000693,p.A451V|uc010bpb.3,p.A344V|ENST00000329841,p.A451V|NM_001293815,p.A344V|ENST00000346623,p.A344V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bpb.3	nonsynonymous SNV	exon8	c.C1031T	p.A344V	LTAAVFTKNLDKALKLASALESGTV	LTAAVFTKNLDKVLKLASALESGTV	10.0	1.0	unscreened	-	1913_15:101447444-101447444 C>T_LTAAVFTKNLDKVLKLASALESGTV
10:52834391-52834391 A>G	1.0	1913	MELANOMA	-	-	-	-	PRKG1	NM_006258,p.K14R|uc001jjn.2,p.K14R|ENST00000373980,p.K14R|uc001jjo.3,p.K14R	protein_coding	uc001jjo.3	nonsynonymous SNV	exon1	c.A41G	p.K14R	GTLRDLQYALQEKIEELRQRDALID	GTLRDLQYALQERIEELRQRDALID	5.0	4.0	unscreened	-	1913_10:52834391-52834391 A>G_GTLRDLQYALQERIEELRQRDALID
17:1538257-1538257 G>A	1.0	1913	MELANOMA	-	-	-	-	SCARF1	NM_003693,p.P763L|uc031qxu.1,p.P735L|ENST00000263071,p.P763L|uc002fsz.2,p.P763L|ENST00000348987,p.P677L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qxu.1	nonsynonymous SNV	exon11	c.C2204T	p.P735L	GQSPNSAPKAGLPGATGPMAVRPEE	GQSPNSAPKAGLLGATGPMAVRPEE	2.0	9.0	unscreened	-	1913_17:1538257-1538257 G>A_GQSPNSAPKAGLLGATGPMAVRPEE
7:81603822-81603822 G>A	1.0	1913	MELANOMA	-	-	-	-	CACNA2D1	uc003uhr.1,p.L668F|ENST00000356860,p.L668F|ENST00000356253,p.L680F|NM_000722,p.L668F	retained_intron, protein_coding, processed_transcript	uc003uhr.1	nonsynonymous SNV	exon25	c.C2002T	p.L668F	NDLKISDNNTEFLLNFNEFIDRKTP	NDLKISDNNTEFFLNFNEFIDRKTP	6.0	5.0	unscreened	-	1913_7:81603822-81603822 G>A_NDLKISDNNTEFFLNFNEFIDRKTP
6:167436074-167436074 G>A	1.0	1913	MELANOMA	-	-	-	1	FGFR1OP	uc003qvk.3,p.D233N|NM_001278690,p.D206N|ENST00000349556,p.D233N|uc003qvj.3,p.D253N|uc011egp.1,p.D206N|NM_194429,p.D233N|NM_007045,p.D253N|ENST00000366847,p.D253N	protein_coding, processed_transcript	uc011egp.1	nonsynonymous SNV	exon6	c.G616A	p.D206N	AGLCPDEDDMEGDSFFDDPIPKPEK	AGLCPDEDDMEGNSFFDDPIPKPEK	8.0	5.0	unscreened	-	1913_6:167436074-167436074 G>A_AGLCPDEDDMEGNSFFDDPIPKPEK
2:37268427-37268427 G>A	1.0	1913	MELANOMA	-	-	-	-	HEATR5B	ENST00000233099,p.S902L|NM_019024,p.S902L|uc002rpp.1,p.S902L|ENST00000354531,p.S902L	retained_intron, protein_coding	uc002rpp.1	nonsynonymous SNV	exon19	c.C2705T	p.S902L	ARMAQYSFDKLKSARDVVSRTGHSL	ARMAQYSFDKLKLARDVVSRTGHSL	7.0	7.0	unscreened	-	1913_2:37268427-37268427 G>A_ARMAQYSFDKLKLARDVVSRTGHSL
20:34240811-34240811 G>A	1.0	1913	MELANOMA	-	-	-	-	RBM12	uc002xds.3,p.L812F|NM_001198840,p.L812F|NM_006047,p.L812F|ENST00000374104,p.L812F|uc021wcr.1,p.L812F|uc021wcq.1,p.L812F|ENST00000359646,p.L812F|ENST00000374114,p.L812F|uc002xdr.3,p.L812F|uc002xdq.3,p.L812F|NM_001198838,p.L812F|NM_152838,p.L812F	protein_coding	uc021wcr.1	nonsynonymous SNV	exon1	c.C2434T	p.L812F	GGPPGFGSGPPGLGSAPGHLGGPPA	GGPPGFGSGPPGFGSAPGHLGGPPA	9.0	5.0	unscreened	-	1913_20:34240811-34240811 G>A_GGPPGFGSGPPGFGSAPGHLGGPPA
2:48809019-48809019 C>T	1.0	1913	MELANOMA	-	-	-	-	STON1,STON1-GTF2A1L	uc010yol.2,p.S416F|uc002rwo.4,p.S416F|NM_172311,p.S416F|NM_006873,p.S416F|uc021vhf.1,p.S416F|ENST00000394751,p.S416F|uc002rwp.2,p.S416F|NM_001198595,p.S416F|ENST00000405008,p.S416F|ENST00000406226,p.S416F|NM_001198594,p.S416F|ENST00000402114,p.S416F|NM_001198593,p.S416F|ENST00000309827,p.S416F|ENST00000394754,p.S416F|ENST00000309835,p.S416F|ENST00000404752,p.S416F|uc010fbm.3,p.S416F	retained_intron, protein_coding, nonsense_mediated_decay	uc021vhf.1	nonsynonymous SNV	exon2	c.C1247T	p.S416F	SKPKKNYEEQEISLEIVDNFWGKVT	SKPKKNYEEQEIFLEIVDNFWGKVT	6.0	4.0	unscreened	-	1913_2:48809019-48809019 C>T_SKPKKNYEEQEIFLEIVDNFWGKVT
19:13211948-13211948 G>A	1.0	1913	MELANOMA	-	-	-	1	LYL1	uc002mwi.3,p.T13I|NM_005583,p.T13I|ENST00000264824,p.T13I	retained_intron, protein_coding	uc002mwi.3	nonsynonymous SNV	exon2	c.C38T	p.T13I	MCPPQAQAEVGPTMTEKAEMVCAPS	MCPPQAQAEVGPIMTEKAEMVCAPS	4.0	9.0	unscreened	-	1913_19:13211948-13211948 G>A_MCPPQAQAEVGPIMTEKAEMVCAPS
14:105420326-105420326 C>T	1.0	1913	MELANOMA	0.0005	-	ID=COSM3386438;OCCURENCE=1(pancreas)	-	AHNAK2	ENST00000333244,p.D488N|uc010axc.1,p.D488N|NM_138420,p.D488N|uc001ypx.2,p.D388N	retained_intron, protein_coding	uc010axc.1	nonsynonymous SNV	exon7	c.G1462A	p.D488N	QIGPPEIRVRVHDLKTPKFAFSTEK	QIGPPEIRVRVHNLKTPKFAFSTEK	6.0	2.0	unscreened	-	1913_14:105420326-105420326 C>T_QIGPPEIRVRVHNLKTPKFAFSTEK
1:11562071-11562071 C>T	1.0	1913	MELANOMA	-	-	-	-	PTCHD2	uc001ash.4,p.T341I|NM_020780,p.T341I|ENST00000389575,p.T341I|ENST00000294484,p.T341I|uc001asi.1,p.T341I	protein_coding, processed_transcript	uc001asi.1	nonsynonymous SNV	exon1	c.C1022T	p.T341I	SYSYCSPPSSLMTYFFPTERGGKIY	SYSYCSPPSSLMIYFFPTERGGKIY	3.0	1.0	unscreened	-	1913_1:11562071-11562071 C>T_SYSYCSPPSSLMIYFFPTERGGKIY
9:139405210-139405210 G>A	1.0	1913	MELANOMA	-	-	-	1	NOTCH1	ENST00000277541,p.R879W|uc004cia.1,p.R109W|NM_017617,p.R879W|uc004chz.3,p.R879W	protein_coding, processed_transcript	uc004cia.1	nonsynonymous SNV	exon4	c.C325T	p.R109W	EVDINECVLSPCRHGASCQNTHGGY	EVDINECVLSPCWHGASCQNTHGGY	6.0	1.0	unscreened	-	1913_9:139405210-139405210 G>A_EVDINECVLSPCWHGASCQNTHGGY
22:37902324-37902324 G>A	1.0	1913	MELANOMA	-	-	-	-	CARD10	ENST00000437756,p.R61C|ENST00000403299,p.R420C|uc003asy.1,p.R420C|ENST00000406271,p.R134C|ENST00000251973,p.R420C|uc003asx.1,p.R420C|uc003asw.1,p.R134C|NM_014550,p.R420C	retained_intron, protein_coding, processed_transcript	uc003asy.1	nonsynonymous SNV	exon7	c.C1258T	p.R420C	QYSQSLIEKDQYRKQVRGLEAERDE	QYSQSLIEKDQYCKQVRGLEAERDE	8.0	6.0	unscreened	-	1913_22:37902324-37902324 G>A_QYSQSLIEKDQYCKQVRGLEAERDE
9:107289127-107289127 G>A	0.0	1913	MELANOMA	-	-	-	-	OR13C4	ENST00000277216,p.R122C|uc011lvn.2,p.R122C|NM_001001919,p.R122C	protein_coding	uc011lvn.2	nonsynonymous SNV	exon1	c.C364T	p.R122C	TECFLLGMMAFDRYVAICNPLRYPI	TECFLLGMMAFDCYVAICNPLRYPI	1.0	9.0	unscreened	-	1913_9:107289127-107289127 G>A_TECFLLGMMAFDCYVAICNPLRYPI
17:79414401-79414401 C>T	1.0	1913	MELANOMA	-	-	-	-	BAHCC1	uc002kaf.2,p.P1106L	retained_intron, protein_coding, processed_transcript	uc002kaf.2	nonsynonymous SNV	exon10	c.C3317T	p.P1106L	QPEPTRTFLPGEPPPCSPRSLEEPG	QPEPTRTFLPGELPPCSPRSLEEPG	6.0	4.0	unscreened	-	1913_17:79414401-79414401 C>T_QPEPTRTFLPGELPPCSPRSLEEPG
20:36869200-36869200 C>T	1.0	1913	MELANOMA	-	-	-	-	KIAA1755	uc002xhy.1,p.E445K|uc002xhz.1,p.E445K|ENST00000279024,p.E445K|NM_001029864,p.E445K	retained_intron, protein_coding	uc002xhz.1	nonsynonymous SNV	exon3	c.G1333A	p.E445K	AASETKIEVKTKERNGRLPKPMPCP	AASETKIEVKTKKRNGRLPKPMPCP	7.0	5.0	unscreened	-	1913_20:36869200-36869200 C>T_AASETKIEVKTKKRNGRLPKPMPCP
19:5783798-5783798 G>A	1.0	1913	MELANOMA	-	-	-	-	PRR22	uc010xiv.1,p.P154S|ENST00000419421,p.P154S|uc002mdb.1,p.P152S|NM_001134316,p.P154S	protein_coding	uc010xiv.1	nonsynonymous SNV	exon3	c.C460T	p.P154S	FLLPYFPPEGPGPEALGFVGDAGPA	FLLPYFPPEGPGSEALGFVGDAGPA	6.0	3.0	unscreened	-	1913_19:5783798-5783798 G>A_FLLPYFPPEGPGSEALGFVGDAGPA
19:8842025-8842025 C>T	0.0	1913	MELANOMA	-	-	-	-	OR2Z1	ENST00000324060,p.S212F|uc010xkg.2,p.S212F|NM_001004699,p.S212F	protein_coding	uc010xkg.2	nonsynonymous SNV	exon1	c.C635T	p.S212F	STSGVLILMLPLSLIATSYGHVLQA	STSGVLILMLPLFLIATSYGHVLQA	1.0	8.0	unscreened	-	1913_19:8842025-8842025 C>T_STSGVLILMLPLFLIATSYGHVLQA
12:6762215-6762215 A>C	1.0	1913	MELANOMA	-	-	-	-	ING4	uc001qpx.4,p.V93G|ENST00000341550,p.V93G|ENST00000423703,p.V93G|ENST00000444704,p.V69G|NM_001127583,p.V93G|NM_001127586,p.V93G|ENST00000446105,p.V93G|ENST00000412586,p.V93G|uc001qpv.4,p.V93G|NM_016162,p.V93G|uc009zet.3,p.V69G|uc001qpy.4,p.V93G|NM_001127585,p.V69G|NM_001127582,p.V93G|ENST00000396807,p.V93G|uc001qpw.4,p.V93G|NM_001127584,p.V93G|uc009zes.3,p.V93G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zet.3	nonsynonymous SNV	exon3	c.T206G	p.V69G	DKVQLAMQTYEMVDKHIRRLDTDLA	DKVQLAMQTYEMGDKHIRRLDTDLA	9.0	2.0	unscreened	-	1913_12:6762215-6762215 A>C_DKVQLAMQTYEMGDKHIRRLDTDLA
1:157768014-157768014 G>A	0.0	1913	MELANOMA	-	-	-	-	FCRL1	ENST00000358292,p.P312S|uc001frg.3,p.P351S|NM_001159397,p.P312S|uc001frh.3,p.P351S|NM_001159398,p.P351S|uc001fri.3,p.P312S|ENST00000368176,p.P351S|NM_052938,p.P351S|ENST00000491942,p.P351S	protein_coding, processed_transcript	uc001fri.3	nonsynonymous SNV	exon7	c.C934T	p.P312S	ARDPLRSLPSPLPQEFTYLNSPTPG	ARDPLRSLPSPLSQEFTYLNSPTPG	1.0	1.0	unscreened	-	1913_1:157768014-157768014 G>A_ARDPLRSLPSPLSQEFTYLNSPTPG
14:74766868-74766882 ACAAAAGGGTCAGGA>-	0.0	1913	MELANOMA	-	-	-	-	ABCD4	ENST00000554453,p.43_48del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000554453	nonframeshift deletion	exon2	c.128_142del	p.43_48del	LFPSWSSQNALMFLTLLCLTLLGTS	LFPSWSSQNALMCLTLLGTSASART	9.0	2.0	unscreened	-	1913_14:74766868-74766882 ACAAAAGGGTCAGGA>-_LFPSWSSQNALMCLTLLGTSASART
14:79111487-79111487 T>A	0.0	1913	MELANOMA	-	-	-	-	NRXN3	uc010asv.1,p.F22Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010asv.1	nonsynonymous SNV	exon2	c.T65A	p.F22Y	DLDEAREENVATFRGSEYLCYDLSQ	DLDEAREENVATYRGSEYLCYDLSQ	8.0	1.0	unscreened	-	1913_14:79111487-79111487 T>A_DLDEAREENVATYRGSEYLCYDLSQ
19:12429458-12429458 G>A	1.0	1913	MELANOMA	-	-	-	-	ZNF563	ENST00000293725,p.P461S|NM_145276,p.P461S|uc002mtp.3,p.P461S	protein_coding	uc002mtp.3	nonsynonymous SNV	exon4	c.C1381T	p.P461S	NKCKVCGKAFVYPSVCQRHEKTHWR	NKCKVCGKAFVYSSVCQRHEKTHWR	4.0	8.0	unscreened	-	1913_19:12429458-12429458 G>A_NKCKVCGKAFVYSSVCQRHEKTHWR
11:56756752-56756752 C>T	0.0	1913	MELANOMA	-	-	-	-	OR5AK2	ENST00000326855,p.P122S|uc010rjp.2,p.P122S|NM_001005323,p.P122S	protein_coding	uc010rjp.2	nonsynonymous SNV	exon1	c.C364T	p.P122S	SDCYLLAMMAVDPYVAICKPLHYTV	SDCYLLAMMAVDSYVAICKPLHYTV	1.0	1.0	unscreened	-	1913_11:56756752-56756752 C>T_SDCYLLAMMAVDSYVAICKPLHYTV
19:11311444-11311444 G>A	1.0	1913	MELANOMA	-	-	-	-	DOCK6	ENST00000294618,p.L1963F|uc002mqs.5,p.L1963F|uc010xlq.3,p.L1302F|ENST00000319867,p.L1302F|NM_020812,p.L1963F|uc002mqr.5,p.L363F	retained_intron, protein_coding, processed_transcript	uc010xlq.3	nonsynonymous SNV	exon32	c.C3904T	p.L1302F	QVFLAEIPEDPKLFRHHNKLRLCFK	QVFLAEIPEDPKFFRHHNKLRLCFK	6.0	8.0	unscreened	-	1913_19:11311444-11311444 G>A_QVFLAEIPEDPKFFRHHNKLRLCFK
4:436926-436926 G>A	1.0	1913	MELANOMA	-	-	-	-	ZNF721	uc010ibe.4,p.P432S|ENST00000511833,p.P444S|uc003gag.4,p.P444S|uc003gaf.5,p.P476S|ENST00000338977,p.P432S|NM_133474,p.P444S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ibe.4	nonsynonymous SNV	exon2	c.C1294T	p.P432S	LNEYKKIHTGDKPYKCKECGKAFIH	LNEYKKIHTGDKSYKCKECGKAFIH	7.0	9.0	unscreened	-	1913_4:436926-436926 G>A_LNEYKKIHTGDKSYKCKECGKAFIH
12:57627670-57627670 C>T	1.0	1913	MELANOMA	-	-	-	-	SHMT2	ENST00000414700,p.P400L|uc010srh.2,p.P400L|uc001snk.2,p.P325L|uc010srj.2,p.P76L|ENST00000557487,p.P411L|uc001sni.2,p.P400L|NM_001166359,p.P400L|NM_001166357,p.P400L|NM_001166356,p.P411L|ENST00000328923,p.P421L|uc009zpk.2,p.P411L|uc001snf.2,p.P421L|NM_001166358,p.P400L|NM_005412,p.P421L|ENST00000449049,p.P400L|uc010sri.2,p.P400L|uc001sng.2,p.P317L|ENST00000393827,p.P325L|uc001snh.2,p.P423L|uc001snj.2,p.P325L|ENST00000553474,p.P400L|uc010srg.2,p.P430L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010srj.2	nonsynonymous SNV	exon3	c.C227T	p.P76L	KNTCPGDRSAITPGGLRLGAPALTS	KNTCPGDRSAITLGGLRLGAPALTS	10.0	3.0	unscreened	-	1913_12:57627670-57627670 C>T_KNTCPGDRSAITLGGLRLGAPALTS
17:15532470-15532470 T>C	1.0	1913	MELANOMA	-	-	-	-	TRIM16	ENST00000579219,p.I82V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000579219	nonsynonymous SNV	exon3	c.A244G	p.I82V	MTSRLTRTQHTSISGCRRRTARSPT	MTSRLTRTQHTSVSGCRRRTARSPT	7.0	4.0	unscreened	-	1913_17:15532470-15532470 T>C_MTSRLTRTQHTSVSGCRRRTARSPT
6:70637877-70637877 G>A	1.0	1913	MELANOMA	-	-	-	-	COL19A1	ENST00000322773,p.E115K|uc003pfc.1,p.E115K|NM_001858,p.E115K	protein_coding, processed_transcript	uc003pfc.1	nonsynonymous SNV	exon5	c.G343A	p.E115K	AAMFRVRRNAKKERWFLWQVLNQQN	AAMFRVRRNAKKKRWFLWQVLNQQN	7.0	1.0	unscreened	-	1913_6:70637877-70637877 G>A_AAMFRVRRNAKKKRWFLWQVLNQQN
1:15957011-15957011 G>A	1.0	1913	MELANOMA	-	-	-	-	DDI2	ENST00000480945,p.E154K|NM_032341,p.E154K|ENST00000320153,p.E39K|uc001awx.2,p.E154K|uc001aww.3,p.E154K	retained_intron, protein_coding, nonsense_mediated_decay	uc001awx.2	nonsynonymous SNV	exon3	c.G460A	p.E154K	LLANPHELSLLKERNPPLAEALLSG	LLANPHELSLLKKRNPPLAEALLSG	7.0	2.0	unscreened	-	1913_1:15957011-15957011 G>A_LLANPHELSLLKKRNPPLAEALLSG
2:33622331-33622331 G>A	1.0	1913	MELANOMA	-	-	-	-	LTBP1	uc002rov.3,p.A1277T|uc002rou.3,p.A1330T|NM_000627,p.A1330T|ENST00000354476,p.A1657T|ENST00000404816,p.A1656T|ENST00000402934,p.A1275T|uc010ynb.2,p.A554T|ENST00000390003,p.A1331T|NM_001166265,p.A1277T|ENST00000404525,p.A1277T|uc010yna.2,p.A1235T|uc021vft.1,p.A1656T|NM_206943,p.A1656T|uc010ymz.2,p.A1288T|ENST00000272273,p.A554T|NM_001166264,p.A1288T|ENST00000407925,p.A1330T|ENST00000418533,p.A1288T|NM_001166266,p.A1235T	protein_coding, processed_transcript	uc021vft.1	nonsynonymous SNV	exon33	c.G4966A	p.A1656T	TCDCFDGYHLDTAKMTCVDVNECDE	TCDCFDGYHLDTTKMTCVDVNECDE	8.0	4.0	unscreened	-	1913_2:33622331-33622331 G>A_TCDCFDGYHLDTTKMTCVDVNECDE
19:50099726-50099726 G>A	1.0	1913	MELANOMA	-	-	ID=COSM418113;OCCURENCE=1(urinary_tract)	-	PRR12	NM_020719,p.E712K|ENST00000418929,p.E712K|uc002poo.4,p.E712K	retained_intron, protein_coding	uc002poo.4	nonsynonymous SNV	exon4	c.G2134A	p.E712K	LQSVIRTSASLDEGATAALELGLGR	LQSVIRTSASLDKGATAALELGLGR	6.0	7.0	unscreened	-	1913_19:50099726-50099726 G>A_LQSVIRTSASLDKGATAALELGLGR
10:4881985-4881985 C>T	1.0	1913	MELANOMA	-	-	-	-	AKR1E2	NM_001040177,p.S216F|ENST00000463345,p.S216F|ENST00000474119,p.S112F|uc001ihi.4,p.S216F|ENST00000298375,p.S216F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001ihi.4	nonsynonymous SNV	exon6	c.C647T	p.S216F	KNLISFCQSRDVSVTAYRPLGGSCE	KNLISFCQSRDVFVTAYRPLGGSCE	7.0	4.0	unscreened	-	1913_10:4881985-4881985 C>T_KNLISFCQSRDVFVTAYRPLGGSCE
8:124408492-124408492 G>A	1.0	1913	MELANOMA	-	-	-	-	ATAD2	NM_014109,p.R36W|uc003yqh.4,p.R36W|ENST00000287394,p.R36W|ENST00000519124,p.R36W|ENST00000517666,p.R36W|uc003yqj.3,p.R36W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yqj.3	nonsynonymous SNV	exon1	c.C106T	p.R36W	LSSDFLSLEHIGRRRLRSAGAAQKK	LSSDFLSLEHIGWRRLRSAGAAQKK	9.0	7.0	unscreened	-	1913_8:124408492-124408492 G>A_LSSDFLSLEHIGWRRLRSAGAAQKK
6:132910398-132910398 G>A	0.0	1913	MELANOMA	-	-	-	-	TAAR5	uc003qdk.2,p.P143L|NM_003967,p.P143L|ENST00000258034,p.P143L	protein_coding	uc003qdk.2	nonsynonymous SNV	exon1	c.C428T	p.P143L	DRHCAICDPLLYPSKFTVRVALRYI	DRHCAICDPLLYLSKFTVRVALRYI	1.0	1.0	unscreened	-	1913_6:132910398-132910398 G>A_DRHCAICDPLLYLSKFTVRVALRYI
16:11931738-11931738 G>A	1.0	1913	MELANOMA	-	-	-	-	RSL1D1	uc002dbp.1,p.A460V|uc010uyw.1,p.A240V|ENST00000571133,p.A460V|uc010buv.1,p.A459V|ENST00000542106,p.A240V|NM_015659,p.A460V	retained_intron, protein_coding, nonsense_mediated_decay	uc010uyw.1	nonsynonymous SNV	exon8	c.C719T	p.A240V	KKDARQTPKKPEAKFFTTPSKSVRK	KKDARQTPKKPEVKFFTTPSKSVRK	10.0	9.0	unscreened	-	1913_16:11931738-11931738 G>A_KKDARQTPKKPEVKFFTTPSKSVRK
5:176951632-176951632 A>G	1.0	1913	MELANOMA	-	-	-	-	FAM193B	uc003mht.3,p.V243A|ENST00000329540,p.V243A|uc003mhv.3,p.V243A|NM_001190946,p.V617A|ENST00000514747,p.V617A|uc003mhr.3,p.V121A|uc021yiw.1,p.V243A|uc003mhu.3,p.V617A|ENST00000443375,p.V584A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021yiw.1	nonsynonymous SNV	exon3	c.T728C	p.V243A	GYPSSEEPSSKEVPSCKQELPEPVS	GYPSSEEPSSKEAPSCKQELPEPVS	9.0	6.0	unscreened	-	1913_5:176951632-176951632 A>G_GYPSSEEPSSKEAPSCKQELPEPVS
22:38109284-38109284 G>A	0.0	1913	MELANOMA	-	-	-	-	TRIOBP	uc003atq.1,p.E108K|uc003atr.3,p.E108K|ENST00000406386,p.E108K|NM_001039141,p.E108K	retained_intron, protein_coding, nonsense_mediated_decay	uc003atr.3	nonsynonymous SNV	exon5	c.G322A	p.E108K	EGPTAAPRSRSRELEAVPYLEGLTT	EGPTAAPRSRSRKLEAVPYLEGLTT	9.0	6.0	unscreened	-	1913_22:38109284-38109284 G>A_EGPTAAPRSRSRKLEAVPYLEGLTT
19:40357475-40357475 C>T	1.0	1913	MELANOMA	-	-	-	-	FCGBP	uc002omp.4,p.E5280K|NM_003890,p.E5280K|ENST00000221347,p.E5280K	protein_coding, processed_transcript	uc002omp.4	nonsynonymous SNV	exon34	c.G15838A	p.E5280K	LQNTIPWYRVVAEVQICHGKTEAVG	LQNTIPWYRVVAKVQICHGKTEAVG	3.0	3.0	unscreened	-	1913_19:40357475-40357475 C>T_LQNTIPWYRVVAKVQICHGKTEAVG
1:1391187-1391187 G>A	1.0	1913	MELANOMA	-	-	-	-	ATAD3C	NM_001039211,p.R152Q|ENST00000378785,p.R152Q|uc001aft.2,p.R152Q|ENST00000475091,p.R100Q	retained_intron, protein_coding	uc001aft.2	nonsynonymous SNV	exon6	c.G455A	p.R152Q	LEGVVLSPSLEARVRDIAIMTRNIK	LEGVVLSPSLEAQVRDIAIMTRNIK	5.0	3.0	unscreened	-	1913_1:1391187-1391187 G>A_LEGVVLSPSLEAQVRDIAIMTRNIK
7:5391485-5391485 G>A	1.0	1913	MELANOMA	-	-	-	-	TNRC18	uc003soj.3,p.S194F	retained_intron, protein_coding	uc003soj.3	nonsynonymous SNV	exon2	c.C581T	p.S194F	FCLLLREAEARSSFSDSSEESFDQG	FCLLLREAEARSFFSDSSEESFDQG	9.0	4.0	unscreened	-	1913_7:5391485-5391485 G>A_FCLLLREAEARSFFSDSSEESFDQG
9:139393689-139393689 G>A	1.0	1913	MELANOMA	-	-	-	1	NOTCH1	NM_017617,p.T1986I|uc004chz.3,p.T1986I|ENST00000277541,p.T1986I	protein_coding, processed_transcript	uc004chz.3	nonsynonymous SNV	exon32	c.C5957T	p.T1986I	QGVFQILIRNRATDLDARMHDGTTP	QGVFQILIRNRAIDLDARMHDGTTP	6.0	1.0	unscreened	-	1913_9:139393689-139393689 G>A_QGVFQILIRNRAIDLDARMHDGTTP
12:79689912-79689912 C>T	1.0	1913	MELANOMA	-	-	ID=COSM225695;OCCURENCE=1(NS)	-	SYT1	ENST00000457153,p.P177S|ENST00000552744,p.P180S|uc001syv.3,p.P180S|uc001sys.3,p.P180S|NM_001135806,p.P180S|NM_001291901,p.P177S|ENST00000261205,p.P180S|uc001syt.3,p.P180S|ENST00000393240,p.P180S|NM_005639,p.P180S|uc001syu.3,p.P177S|NM_001135805,p.P180S	protein_coding, processed_transcript	uc001syv.3	nonsynonymous SNV	exon6	c.C538T	p.P180S	ELPALDMGGTSDPYVKVFLLPDKKK	ELPALDMGGTSDSYVKVFLLPDKKK	7.0	3.0	unscreened	-	1913_12:79689912-79689912 C>T_ELPALDMGGTSDSYVKVFLLPDKKK
11:82877596-82877596 C>T	1.0	1913	MELANOMA	-	-	-	-	PCF11	ENST00000530660,p.R553W|uc001ozx.4,p.R553W|ENST00000298281,p.R553W|uc010rsu.1,p.R553W|ENST00000530304,p.R553W|NM_015885,p.R553W	retained_intron, protein_coding, TEC	uc010rsu.1	nonsynonymous SNV	exon5	c.C1657T	p.R553W	DRNAKRSTKQDIRDPRRMKKTEEER	DRNAKRSTKQDIWDPRRMKKTEEER	8.0	3.0	unscreened	-	1913_11:82877596-82877596 C>T_DRNAKRSTKQDIWDPRRMKKTEEER
10:103766383-103766383 G>A	1.0	1913	MELANOMA	-	-	-	-	C10orf76	uc009xwy.1,p.P321L|ENST00000370033,p.P321L|NM_024541,p.P321L	protein_coding, processed_transcript	uc009xwy.1	nonsynonymous SNV	exon14	c.C962T	p.P321L	NRNFITVLAQSHPEMGLVTTPVSPA	NRNFITVLAQSHLEMGLVTTPVSPA	7.0	6.0	unscreened	-	1913_10:103766383-103766383 G>A_NRNFITVLAQSHLEMGLVTTPVSPA
7:36455391-36455391 C>T	1.0	1913	MELANOMA	-	-	-	-	ANLN	NM_018685,p.L474F|uc011kaz.2,p.L386F|uc003tff.3,p.L474F|ENST00000265748,p.L474F|uc010kxe.3,p.L474F|ENST00000396068,p.L474F|NM_001284302,p.L474F|uc003tfg.3,p.L474F|NM_001284301,p.L474F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kaz.2	nonsynonymous SNV	exon8	c.C1156T	p.L386F	ETKQETHCQSTPLKKHQGVSKTQSL	ETKQETHCQSTPFKKHQGVSKTQSL	9.0	5.0	unscreened	-	1913_7:36455391-36455391 C>T_ETKQETHCQSTPFKKHQGVSKTQSL
11:34118842-34118842 G>A	1.0	1913	MELANOMA	-	-	-	-	CAPRIN1	ENST00000532820,p.R667Q|NM_203364,p.R667Q|uc001mvj.1,p.R586Q|uc001mvg.3,p.R667Q|ENST00000341394,p.R667Q|uc001mvh.1,p.R667Q|NM_005898,p.R667Q|uc001mvi.2,p.R667Q|ENST00000529307,p.R586Q|ENST00000530820,p.R667Q|ENST00000389645,p.R667Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc001mvj.1	nonsynonymous SNV	exon16	c.G1757A	p.R586Q	QFSAPRDYSGYQRDGYQQNFKRGSG	QFSAPRDYSGYQQDGYQQNFKRGSG	10.0	9.0	unscreened	-	1913_11:34118842-34118842 G>A_QFSAPRDYSGYQQDGYQQNFKRGSG
X:108921522-108921522 C>T	1.0	1913	MELANOMA	-	-	-	-	ACSL4	uc004eok.2,p.G260S|uc010npp.1,p.G301S|NM_004458,p.G260S|ENST00000340800,p.G301S|NM_022977,p.G301S|ENST00000469796,p.G301S|ENST00000348502,p.G260S|uc004eoj.2,p.G260S|uc004eoi.2,p.G301S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010npp.1	nonsynonymous SNV	exon7	c.G901A	p.G301S	MMHHSNLIAGMTGQCERIPGLGPKD	MMHHSNLIAGMTSQCERIPGLGPKD	7.0	9.0	unscreened	-	1913_X:108921522-108921522 C>T_MMHHSNLIAGMTSQCERIPGLGPKD
15:30012196-30012196 G>A	1.0	1913	MELANOMA	-	-	-	-	TJP1	ENST00000346128,p.P930S|NM_001301025,p.P997S|ENST00000356107,p.P930S|NM_003257,p.P930S|uc010azl.3,p.P918S|uc001zcr.3,p.P930S	retained_intron, protein_coding	uc010azl.3	nonsynonymous SNV	exon19	c.C2752T	p.P918S	ASQQKAEASSPVPYLSPETNPASST	ASQQKAEASSPVSYLSPETNPASST	8.0	1.0	unscreened	-	1913_15:30012196-30012196 G>A_ASQQKAEASSPVSYLSPETNPASST
19:40424038-40424038 G>A	1.0	1913	MELANOMA	-	-	-	-	FCGBP	NM_003890,p.A722V|ENST00000221347,p.A722V|uc002omp.4,p.A722V	protein_coding, processed_transcript	uc002omp.4	nonsynonymous SNV	exon4	c.C2165T	p.A722V	ERLSLCRGLSAYAQACLELGISVGD	ERLSLCRGLSAYVQACLELGISVGD	3.0	5.0	unscreened	-	1913_19:40424038-40424038 G>A_ERLSLCRGLSAYVQACLELGISVGD
7:14025765-14025765 G>A	0.0	1913	MELANOMA	-	-	-	1	ETV1	uc021zzy.1,p.P13S|ENST00000420159,p.P13S|uc021zzv.1,p.P13S|NM_001163151,p.P13S|ENST00000438956,p.P13S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zzy.1	nonsynonymous SNV	exon1	c.C37T	p.P13S	MLQDLSASVFFPPCSQHRTLVAFHG	MLQDLSASVFFPSCSQHRTLVAFHG	10.0	7.0	unscreened	-	1913_7:14025765-14025765 G>A_MLQDLSASVFFPSCSQHRTLVAFHG
18:10696518-10696518 G>A	0.0	1913	MELANOMA	-	-	-	-	PIEZO2	ENST00000538948,p.P127S|ENST00000580640,p.P2195S|ENST00000503781,p.P2170S|uc002koq.3,p.P25S|ENST00000285141,p.P25S|ENST00000302079,p.P2170S|uc002kos.2,p.P2170S|NM_022068,p.P2170S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kos.2	nonsynonymous SNV	exon42	c.C6508T	p.P2170S	AFTIKKTLEIYVPIKQFFYNLIHPE	AFTIKKTLEIYVSIKQFFYNLIHPE	1.0	1.0	unscreened	-	1913_18:10696518-10696518 G>A_AFTIKKTLEIYVSIKQFFYNLIHPE
12:7174404-7174404 C>T	1.0	1913	MELANOMA	-	-	-	-	C1S	uc001qsj.3,p.S350F|NM_201442,p.S350F|uc009zfr.3,p.S183F|ENST00000360817,p.S350F|uc001qsl.3,p.S350F|uc001qsk.3,p.S350F|ENST00000328916,p.S350F|NM_001734,p.S350F|ENST00000406697,p.S350F|ENST00000402681,p.S183F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zfr.3	nonsynonymous SNV	exon8	c.C548T	p.S183F	YSTCQSNGKWSNSKLKCQPVDCGIP	YSTCQSNGKWSNFKLKCQPVDCGIP	6.0	9.0	unscreened	-	1913_12:7174404-7174404 C>T_YSTCQSNGKWSNFKLKCQPVDCGIP
1:45810753-45810753 C>T	1.0	1913	MELANOMA	-	-	-	-	TESK2	ENST00000372084,p.R463K|NM_007170,p.R492K|ENST00000538496,p.R409K|uc009vxs.1,p.R284K|uc001cns.1,p.R492K|uc009vxr.1,p.R463K|ENST00000341771,p.R463K|uc010olo.1,p.R409K|ENST00000372086,p.R492K	protein_coding, processed_transcript	uc010olo.1	nonsynonymous SNV	exon10	c.G1226A	p.R409K	DGPPPRLSSLKYRVKEIPPFRASAL	DGPPPRLSSLKYKVKEIPPFRASAL	5.0	9.0	unscreened	-	1913_1:45810753-45810753 C>T_DGPPPRLSSLKYKVKEIPPFRASAL
9:129642739-129642739 C>T	1.0	1913	MELANOMA	-	-	-	-	ZBTB34	NM_001099270,p.P350L|uc022bnn.1,p.P350L|ENST00000319119,p.P354L|ENST00000373452,p.P350L|uc004bqm.4,p.P350L	protein_coding	uc022bnn.1	nonsynonymous SNV	exon1	c.C1049T	p.P350L	VQGSDSEAMMNNPGYESSPRERSAR	VQGSDSEAMMNNLGYESSPRERSAR	5.0	3.0	unscreened	-	1913_9:129642739-129642739 C>T_VQGSDSEAMMNNLGYESSPRERSAR
5:140474588-140474588 G>A	1.0	1913	MELANOMA	-	-	-	-	PCDHB2	ENST00000194155,p.G72R|NM_018936,p.G72R|uc003lil.3,p.G72R	protein_coding	uc003lil.3	nonsynonymous SNV	exon1	c.G214A	p.G72R	ELAVRGARVVSKGKKMHLQFDRQTG	ELAVRGARVVSKRKKMHLQFDRQTG	6.0	1.0	unscreened	-	1913_5:140474588-140474588 G>A_ELAVRGARVVSKRKKMHLQFDRQTG
1:110924405-110924405 G>A	0.0	1913	MELANOMA	-	-	-	-	SLC16A4	uc010ovy.2,p.A16V|NM_001201547,p.A16V|ENST00000541986,p.A16V|uc001dzq.2,p.A16V	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ovy.2	nonsynonymous SNV	exon3	c.C47T	p.A16V	DDCDSFFPGPLVAIICDILGEKTTS	DDCDSFFPGPLVVIICDILGEKTTS	5.0	9.0	unscreened	-	1913_1:110924405-110924405 G>A_DDCDSFFPGPLVVIICDILGEKTTS
X:92965019-92965019 G>A	1.0	1913	MELANOMA	-	-	-	-	FAM133A	uc022bzu.1,p.E201K|ENST00000332647,p.E201K|NM_001171109,p.E201K|ENST00000355813,p.E201K|NM_001171111,p.E201K|NM_173698,p.E201K|ENST00000538690,p.E201K|uc022bzw.1,p.E201K|ENST00000322139,p.E201K|uc022bzv.1,p.E201K|NM_001171110,p.E201K|uc004efr.2,p.E201K|uc022bzx.1,p.E201K	protein_coding	uc022bzx.1	nonsynonymous SNV	exon1	c.G601A	p.E201K	PLSSESSSESDYEEDVQAKKKRRCE	PLSSESSSESDYKEDVQAKKKRRCE	9.0	9.0	unscreened	-	1913_X:92965019-92965019 G>A_PLSSESSSESDYKEDVQAKKKRRCE
3:27332994-27332994 G>A	0.0	1913	MELANOMA	-	-	-	-	NEK10	ENST00000341435,p.S486F|uc003cdt.2,p.S486F|ENST00000429845,p.S486F|NM_199347,p.S486F	retained_intron, protein_coding, processed_transcript	uc003cdt.2	nonsynonymous SNV	exon18	c.C1457T	p.S486F	YVRDISAYEELVSKLNLLVEDELKQ	YVRDISAYEELVFKLNLLVEDELKQ	5.0	4.0	unscreened	-	1913_3:27332994-27332994 G>A_YVRDISAYEELVFKLNLLVEDELKQ
15:57356002-57356002 C>T	1.0	1913	MELANOMA	-	-	-	1	TCF12	uc010ugm.1,p.P120L|NM_207036,p.P68L|NM_003205,p.P68L|ENST00000557947,p.P68L|uc002aec.3,p.P68L|NM_207038,p.P68L|uc002aea.3,p.P68L|NM_207037,p.P68L|ENST00000438423,p.P68L|uc002aed.3,p.P68L|ENST00000267811,p.P68L|uc002aeb.3,p.P68L|ENST00000333725,p.P68L|ENST00000557843,p.P68L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ugm.1	nonsynonymous SNV	exon4	c.C359T	p.P120L	GTTSWGTSGQPSPSYDSSRGFTDSP	GTTSWGTSGQPSLSYDSSRGFTDSP	9.0	1.0	unscreened	-	1913_15:57356002-57356002 C>T_GTTSWGTSGQPSLSYDSSRGFTDSP
20:46386059-46386059 A>T	0.0	1913	MELANOMA	-	-	-	-	SULF2	uc002xtr.3,p.S17T|ENST00000361612,p.S17T|uc002xtq.3,p.S17T|ENST00000484875,p.S17T|uc010ghv.1,p.S17T|ENST00000359930,p.S17T|NM_198596,p.S17T|uc002xto.3,p.S17T|ENST00000437955,p.S17T|ENST00000467815,p.S17T|NM_001161841,p.S17T|NM_018837,p.S17T	retained_intron, protein_coding, processed_transcript	uc010ghv.1	nonsynonymous SNV	exon2	c.T49A	p.S17T	SLVLCLLSATVFSLLGGSSAFLSHH	SLVLCLLSATVFTLLGGSSAFLSHH	4.0	8.0	unscreened	-	1913_20:46386059-46386059 A>T_SLVLCLLSATVFTLLGGSSAFLSHH
X:3235414-3235414 G>A	0.0	1913	MELANOMA	-	-	-	-	MXRA5	uc004crg.4,p.P2103L|NM_015419,p.P2103L|ENST00000217939,p.P2103L	protein_coding	uc004crg.4	nonsynonymous SNV	exon6	c.C6308T	p.P2103L	PSQFLHGNLFVFPNGTLYIRNLAPK	PSQFLHGNLFVFLNGTLYIRNLAPK	1.0	9.0	unscreened	-	1913_X:3235414-3235414 G>A_PSQFLHGNLFVFLNGTLYIRNLAPK
2:160287416-160287416 G>A	1.0	1913	MELANOMA	-	-	-	-	BAZ2B	ENST00000392782,p.L716F|uc002uar.1,p.L291F|NM_001289975,p.L716F|ENST00000392783,p.L718F|uc002uap.3,p.L716F|uc002uao.3,p.L718F|ENST00000355831,p.L718F|NM_013450,p.L718F	retained_intron, protein_coding, processed_transcript	uc002uar.1	nonsynonymous SNV	exon2	c.C871T	p.L291F	AALCSESQSPAFLGTSSSTLTSSPH	AALCSESQSPAFFGTSSSTLTSSPH	6.0	4.0	unscreened	-	1913_2:160287416-160287416 G>A_AALCSESQSPAFFGTSSSTLTSSPH
20:2413189-2413189 C>T	0.0	1913	MELANOMA	-	-	-	-	TGM6	ENST00000202625,p.P674L|NM_198994,p.P674L|uc002wfy.1,p.P674L	protein_coding, processed_transcript	uc002wfy.1	nonsynonymous SNV	exon13	c.C2021T	p.P674L	PQERASVQFDITPSKSGPRQLQVDL	PQERASVQFDITLSKSGPRQLQVDL	1.0	4.0	unscreened	-	1913_20:2413189-2413189 C>T_PQERASVQFDITLSKSGPRQLQVDL
6:33256634-33256634 G>A	1.0	1913	MELANOMA	-	-	-	-	WDR46	ENST00000374617,p.P76S|uc003ods.3,p.P76S|NM_005452,p.P76S	retained_intron, protein_coding, processed_transcript	uc003ods.3	nonsynonymous SNV	exon2	c.C226T	p.P76S	LKKSRISKKPQVPKKPREWKNPESQ	LKKSRISKKPQVSKKPREWKNPESQ	10.0	9.0	unscreened	-	1913_6:33256634-33256634 G>A_LKKSRISKKPQVSKKPREWKNPESQ
10:17271915-17271915 C>T	1.0	1913	MELANOMA	-	-	-	-	VIM	ENST00000544301,p.T165I|ENST00000487938,p.T165I|ENST00000224237,p.T165I|uc001iou.2,p.T165I|NM_003380,p.T165I	protein_coding, processed_transcript, nonsense_mediated_decay	uc001iou.2	nonsynonymous SNV	exon2	c.C494T	p.T165I	EMRELRRQVDQLTNDKARVEVERDN	EMRELRRQVDQLINDKARVEVERDN	10.0	2.0	unscreened	-	1913_10:17271915-17271915 C>T_EMRELRRQVDQLINDKARVEVERDN
14:105246475-105246475 G>A	1.0	1913	MELANOMA	-	-	-	1	AKT1	NM_005163,p.P42L|uc010axa.3,p.P42L|ENST00000555528,p.P42L|NM_001014431,p.P42L|ENST00000402615,p.P42L|ENST00000554848,p.P42L|ENST00000349310,p.P42L|ENST00000555926,p.P42L|uc001ypl.3,p.P42L|uc001ypm.3,p.P42L|NM_001014432,p.P42L|ENST00000407796,p.P42L|ENST00000554581,p.P42L|uc001ypn.3,p.P42L|uc001ypk.3,p.P42L	retained_intron, protein_coding, processed_transcript	uc010axa.3	nonsynonymous SNV	exon3	c.C125T	p.P42L	KNDGTFIGYKERPQDVDQREAPLNN	KNDGTFIGYKERLQDVDQREAPLNN	10.0	9.0	unscreened	-	1913_14:105246475-105246475 G>A_KNDGTFIGYKERLQDVDQREAPLNN
14:79111487-79111487 T>A	0.0	1913	MELANOMA	-	-	-	-	NRXN3	ENST00000554738,p.F259Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000554738	nonsynonymous SNV	exon4	c.T776A	p.F259Y	GRSKAREENVATFRGSEYLCYDLSQ	GRSKAREENVATYRGSEYLCYDLSQ	8.0	1.0	unscreened	-	1913_14:79111487-79111487 T>A_GRSKAREENVATYRGSEYLCYDLSQ
10:17726852-17726852 A>C	1.0	1913	MELANOMA	-	-	-	-	STAM	NM_003473,p.N75H|ENST00000377524,p.N75H|uc001ipj.2,p.N75H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ipj.2	nonsynonymous SNV	exon4	c.A223C	p.N75H	MQALTLLGACVSNCGKIFHLEVCSR	MQALTLLGACVSHCGKIFHLEVCSR	7.0	6.0	unscreened	-	1913_10:17726852-17726852 A>C_MQALTLLGACVSHCGKIFHLEVCSR
2:182346352-182346352 G>A	0.0	1913	MELANOMA	0.0005	-	-	-	ITGA4	NM_000885,p.R261Q|uc010zfl.1,p.R261Q|ENST00000233573,p.R261Q|uc002unu.3,p.R261Q|ENST00000397033,p.R261Q	retained_intron, protein_coding, processed_transcript	uc010zfl.1	nonsynonymous SNV	exon7	c.G782A	p.R261Q	SYLGYSVGAGHFRSQHTTEVVGGAP	SYLGYSVGAGHFQSQHTTEVVGGAP	8.0	2.0	unscreened	-	1913_2:182346352-182346352 G>A_SYLGYSVGAGHFQSQHTTEVVGGAP
10:24908779-24908779 G>A	1.0	1913	MELANOMA	-	-	-	-	ARHGAP21	ENST00000320481,p.S469F|NM_020824,p.S682F|uc009xkl.1,p.S682F|ENST00000376410,p.S672F|ENST00000446003,p.S682F|uc010qdc.1,p.S517F|uc001isc.1,p.S672F|uc001isb.2,p.S682F|ENST00000396432,p.S682F	retained_intron, protein_coding, processed_transcript	uc010qdc.1	nonsynonymous SNV	exon3	c.C1550T	p.S517F	DSAPDQQVETGKSPSLSGASAKPAP	DSAPDQQVETGKFPSLSGASAKPAP	8.0	6.0	unscreened	-	1913_10:24908779-24908779 G>A_DSAPDQQVETGKFPSLSGASAKPAP
19:48877011-48877011 G>A	0.0	1913	MELANOMA	-	-	-	-	SYNGR4	ENST00000595322,p.D62N	protein_coding	ENST00000595322	nonsynonymous SNV	exon2	c.G184A	p.D62N	KTAFQLLDFILADIPGLPGIPGPPK	KTAFQLLDFILANIPGLPGIPGPPK	3.0	4.0	unscreened	-	1913_19:48877011-48877011 G>A_KTAFQLLDFILANIPGLPGIPGPPK
9:33264402-33264402 C>T	1.0	1913	MELANOMA	-	-	-	-	BAG1	NM_004323,p.E91K|ENST00000472232,p.E91K|uc003zsj.3,p.E91K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zsj.3	nonsynonymous SNV	exon1	c.G271A	p.E91K	RSTRSEELTRSEELTLSEEATWSEE	RSTRSEELTRSEKLTLSEEATWSEE	9.0	8.0	unscreened	-	1913_9:33264402-33264402 C>T_RSTRSEELTRSEKLTLSEEATWSEE
17:70645098-70645098 T>A	1.0	1913	MELANOMA	-	-	-	-	SLC39A11	ENST00000255559,p.Y258F|uc002jja.3,p.Y258F|NM_001159770,p.Y265F|NM_139177,p.Y258F|ENST00000582769,p.Y174F|uc002jjb.3,p.Y265F|ENST00000542342,p.Y265F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jjb.3	nonsynonymous SNV	exon9	c.A794T	p.Y265F	RGAGFSTWRAFWYGQLSGMVEPLAG	RGAGFSTWRAFWFGQLSGMVEPLAG	8.0	6.0	unscreened	-	1913_17:70645098-70645098 T>A_RGAGFSTWRAFWFGQLSGMVEPLAG
17:37902253-37902253 G>A	0.0	1913	MELANOMA	-	-	-	-	GRB7	ENST00000394209,p.G453D|uc010cwc.3,p.G453D|ENST00000445327,p.G476D|ENST00000309156,p.G453D|NM_005310,p.G453D|uc002hsr.3,p.G453D|uc021twu.1,p.G476D|NM_001242442,p.G476D|uc002hss.3,p.G453D|NM_001242443,p.G453D|NM_001030002,p.G453D|ENST00000394211,p.G453D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021twu.1	nonsynonymous SNV	exon13	c.G1427A	p.G476D	SQRLIGQQGLVDGLFLVRESQRNPQ	SQRLIGQQGLVDDLFLVRESQRNPQ	3.0	9.0	unscreened	-	1913_17:37902253-37902253 G>A_SQRLIGQQGLVDDLFLVRESQRNPQ
5:140736134-140736134 C>T	0.0	1913	MELANOMA	-	-	-	-	PCDHGA4	uc003ljp.1,p.S456F|uc003ljq.2,p.S456F|NM_032053,p.S487F|NM_018917,p.S487F|ENST00000571252,p.S456F	protein_coding	uc003ljq.2	nonsynonymous SNV	exon1	c.C1367T	p.S456F	DINDNPPTFPHASYSAYIPENNPRG	DINDNPPTFPHAFYSAYIPENNPRG	4.0	2.0	unscreened	-	1913_5:140736134-140736134 C>T_DINDNPPTFPHAFYSAYIPENNPRG
22:19207500-19207500 G>A	0.0	1913	MELANOMA	-	-	-	1	CLTCL1	uc011agw.1,p.S938F|ENST00000427926,p.S938F|uc021wlc.1,p.S938F|uc021wld.1,p.S938F|ENST00000353891,p.S938F|ENST00000263200,p.S938F|NM_007098,p.S938F|uc021wle.1,p.S938F|NM_001835,p.S938F|uc021wlf.1,p.S938F|ENST00000505027,p.S938F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wlf.1	nonsynonymous SNV	exon18	c.C2813T	p.S938F	CDLELIKVCNENSLFKSEARYLVCR	CDLELIKVCNENFLFKSEARYLVCR	5.0	4.0	unscreened	-	1913_22:19207500-19207500 G>A_CDLELIKVCNENFLFKSEARYLVCR
14:45628368-45628368 T>C	1.0	1913	MELANOMA	-	-	-	-	FANCM	ENST00000556036,p.V489A|uc001wwd.4,p.V489A|uc001wwc.2,p.V489A|uc001wwe.4,p.V94A|ENST00000267430,p.V489A|uc010anf.3,p.V463A|ENST00000542564,p.V463A|NM_020937,p.V489A|ENST00000556250,p.V74A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010anf.3	nonsynonymous SNV	exon8	c.T1388C	p.V463A	TRVMIFSSFRDSVQEIAEMLSQHQP	TRVMIFSSFRDSAQEIAEMLSQHQP	6.0	7.0	unscreened	-	1913_14:45628368-45628368 T>C_TRVMIFSSFRDSAQEIAEMLSQHQP
1:207237134-207237134 C>T	1.0	1913	MELANOMA	-	-	-	-	PFKFB2	uc009xcc.3,p.S114F|ENST00000367079,p.S156F|ENST00000545806,p.S123F|uc010psc.2,p.S58F|uc001hfg.3,p.S156F|NM_006212,p.S156F|uc001hfh.3,p.S156F|NM_001018053,p.S156F|ENST00000411990,p.S58F|ENST00000367080,p.S156F	protein_coding, processed_transcript	uc010psc.2	nonsynonymous SNV	exon9	c.C173T	p.S58F	AEQNSFKVFFVESVCDDPDVIAANI	AEQNSFKVFFVEFVCDDPDVIAANI	6.0	2.0	unscreened	-	1913_1:207237134-207237134 C>T_AEQNSFKVFFVEFVCDDPDVIAANI
21:32513464-32513464 A>G	1.0	1913	MELANOMA	-	-	-	-	TIAM1	ENST00000541036,p.I1189T|uc002yow.1,p.I1249T|uc011adl.1,p.I1189T|uc011adk.1,p.I1249T|NM_003253,p.I1249T|ENST00000286827,p.I1249T	retained_intron, protein_coding, processed_transcript	uc011adl.1	nonsynonymous SNV	exon18	c.T3566C	p.I1189T	IHEEFGAVFDQLIAEQTGEKKEVAD	IHEEFGAVFDQLTAEQTGEKKEVAD	6.0	7.0	unscreened	-	1913_21:32513464-32513464 A>G_IHEEFGAVFDQLTAEQTGEKKEVAD
17:43924165-43924165 G>A	0.0	1913	MELANOMA	-	-	-	-	SPPL2C	NM_175882,p.M631I|ENST00000329196,p.M631I|uc010wka.2,p.M631I	protein_coding	uc010wka.2	nonsynonymous SNV	exon1	c.G1893A	p.M631I	PGASEELMPLMPMAMLIPLMPLMPP	PGASEELMPLMPIAMLIPLMPLMPP	1.0	4.0	unscreened	-	1913_17:43924165-43924165 G>A_PGASEELMPLMPIAMLIPLMPLMPP
17:29556280-29556281 TC>-	0.0	1913	MELANOMA	-	-	-	1	NF1	uc002hgg.3,p.S883fs|NM_001042492,p.S883fs|ENST00000358273,p.S883fs|ENST00000356175,p.S883fs|uc010csn.2,p.S743fs|ENST00000456735,p.S549fs|ENST00000579081,p.S917fs|uc002hgh.3,p.S883fs|NM_000267,p.S883fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010csn.2	frameshift deletion	exon19	c.2227_2228del	p.S743fs	SERKGSMISVMSSEGNADTPVSKFM	SERKGSMISVMSRGKRRYTCQQIYGSAVVLNGV	6.0	9.0	unscreened	-	1913_17:29556280-29556281 TC>-_SERKGSMISVMSRGKRRYTCQQIYGSAVVLNGV
1:20501671-20501671 G>A	0.0	1913	MELANOMA	-	-	-	-	PLA2G2C	ENST00000247992,p.S6F|NM_001105572,p.S6F|uc009vpq.1,p.S6F	protein_coding, processed_transcript	uc009vpq.1	nonsynonymous SNV	exon1	c.C17T	p.S6F	MLIATSFFLFFSSVVAAP	MLIATFFFLFFSSVVAAP	1.0	6.0	unscreened	-	1913_1:20501671-20501671 G>A_MLIATFFFLFFSSVVAAP
17:43924166-43924166 G>A	0.0	1913	MELANOMA	-	-	-	-	SPPL2C	uc010wka.2,p.A632T|NM_175882,p.A632T|ENST00000329196,p.A632T	protein_coding	uc010wka.2	nonsynonymous SNV	exon1	c.G1894A	p.A632T	GASEELMPLMPMAMLIPLMPLMPPP	GASEELMPLMPMTMLIPLMPLMPPP	1.0	4.0	unscreened	-	1913_17:43924166-43924166 G>A_GASEELMPLMPMTMLIPLMPLMPPP
X:91090684-91090684 A>G	0.0	1913	MELANOMA	-	-	-	-	PCDH11X	NM_001168363,p.M61V|uc004efn.2,p.M61V|ENST00000395337,p.M61V|uc004efo.2,p.M61V|ENST00000373094,p.M61V|NM_001168361,p.M61V|uc004efl.2,p.M61V|NM_001168360,p.M61V|uc004efh.2,p.M61V|uc004efm.2,p.M61V|ENST00000298274,p.M61V|ENST00000361655,p.M61V|uc004efj.1,p.M61V|uc004efk.2,p.M61V|ENST00000361724,p.M61V|ENST00000406881,p.M61V|ENST00000373088,p.M61V|ENST00000504220,p.M61V|NM_001168362,p.M61V|uc010nmv.2,p.M61V|NM_032969,p.M61V|NM_032968,p.M61V|ENST00000373097,p.M61V	protein_coding	uc010nmv.2	nonsynonymous SNV	exon1	c.A181G	p.M61V	LSLIPNKSLTTAMQFKLVYKTGDVP	LSLIPNKSLTTAVQFKLVYKTGDVP	1.0	9.0	unscreened	-	1913_X:91090684-91090684 A>G_LSLIPNKSLTTAVQFKLVYKTGDVP
7:150389804-150389804 C>T	0.0	1913	MELANOMA	-	-	-	-	GIMAP2	ENST00000223293,p.L144F|NM_015660,p.L144F|uc003who.3,p.L144F	retained_intron, protein_coding	uc003who.3	nonsynonymous SNV	exon3	c.C430T	p.L144F	IFGEDAMGHTIVLFTHKEDLNGGSL	IFGEDAMGHTIVFFTHKEDLNGGSL	2.0	3.0	unscreened	-	1913_7:150389804-150389804 C>T_IFGEDAMGHTIVFFTHKEDLNGGSL
11:7847156-7847156 G>A	0.0	1913	MELANOMA	0.0005	-	-	-	OR5P3	NM_153445,p.R122C|ENST00000328375,p.R122C|uc010rbg.2,p.R122C	protein_coding	uc010rbg.2	nonsynonymous SNV	exon1	c.C364T	p.R122C	AECFLLAAMAYDRYVAICSPLLYST	AECFLLAAMAYDCYVAICSPLLYST	1.0	9.0	unscreened	-	1913_11:7847156-7847156 G>A_AECFLLAAMAYDCYVAICSPLLYST
1:2528043-2528043 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1686897;OCCURENCE=1(skin)	-	MMEL1	ENST00000378412,p.S453F|ENST00000504800,p.S453F|ENST00000288709,p.S444F|ENST00000502556,p.S296F|NM_033467,p.S453F|uc001ajy.2,p.S453F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ajy.2	nonsynonymous SNV	exon14	c.C1358T	p.S453F	GYVNSNMENAVGSLYVREAFPGDSK	GYVNSNMENAVGFLYVREAFPGDSK	8.0	6.0	unscreened	-	1913_1:2528043-2528043 G>A_GYVNSNMENAVGFLYVREAFPGDSK
12:65856983-65856983 G>A	1.0	1913	MELANOMA	-	-	-	-	MSRB3	uc009zqp.3,p.G147R|ENST00000535664,p.G147R|NM_001031679,p.G147R|ENST00000308259,p.G147R|NM_001193460,p.G147R|uc001ssn.3,p.G154R|ENST00000535239,p.G147R|uc021qzy.1,p.G147R|uc001ssm.3,p.G147R|ENST00000355192,p.G154R|NM_198080,p.G154R|NM_001193461,p.G147R	protein_coding, processed_transcript, nonsense_mediated_decay	uc021qzy.1	nonsynonymous SNV	exon7	c.G439A	p.G147R	LGHIFDDGPRPTGKRYCINSAALSF	LGHIFDDGPRPTRKRYCINSAALSF	8.0	2.0	unscreened	-	1913_12:65856983-65856983 G>A_LGHIFDDGPRPTRKRYCINSAALSF
11:5248223-5248223 G>A	0.0	1913	MELANOMA	-	-	-	-	HBB	NM_000518,p.S10F|ENST00000335295,p.S10F|ENST00000380315,p.S10F|uc001mae.1,p.S10F	retained_intron, protein_coding	uc001mae.1	nonsynonymous SNV	exon1	c.C29T	p.S10F	MVHLTPEEKSAVTALWGKVNVD	MVHLTPEEKFAVTALWGKVNVD	10.0	3.0	unscreened	-	1913_11:5248223-5248223 G>A_MVHLTPEEKFAVTALWGKVNVD
3:122102058-122102058 C>T	1.0	1913	MELANOMA	-	-	-	-	CCDC58	ENST00000291458,p.S5N|NM_001017928,p.S5N|uc003eey.3,p.S5N|ENST00000497726,p.S5N	retained_intron, protein_coding, processed_transcript	uc003eey.3	nonsynonymous SNV	exon1	c.G14A	p.S5N	MAAPSGGVNCEEFAEFQ	MAAPNGGVNCEEFAEFQ	9.0	2.0	unscreened	-	1913_3:122102058-122102058 C>T_MAAPNGGVNCEEFAEFQ
10:61835312-61835312 G>A	0.0	1913	MELANOMA	-	-	ID=COSM109587;OCCURENCE=1(skin)	-	ANK3	uc001jky.3,p.S1776F|NM_020987,p.S1776F|ENST00000280772,p.S1776F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jky.3	nonsynonymous SNV	exon37	c.C5327T	p.S1776F	EKVFSTTTAMPFSPLRSYVSAAPSA	EKVFSTTTAMPFFPLRSYVSAAPSA	3.0	4.0	unscreened	-	1913_10:61835312-61835312 G>A_EKVFSTTTAMPFFPLRSYVSAAPSA
11:67077339-67077339 G>A	1.0	1913	MELANOMA	-	-	-	-	SSH3	NM_017857,p.E437K|ENST00000527821,p.E140K|uc001okl.3,p.E291K|ENST00000308127,p.E437K|uc001okj.3,p.E437K|ENST00000376757,p.E437K	protein_coding, processed_transcript, nonsense_mediated_decay	uc001okl.3	nonsynonymous SNV	exon11	c.G871A	p.E291K	LAYAMKQYECSLEQALRHVQELRPI	LAYAMKQYECSLKQALRHVQELRPI	7.0	9.0	unscreened	-	1913_11:67077339-67077339 G>A_LAYAMKQYECSLKQALRHVQELRPI
1:196977760-196977760 C>T	0.0	1913	MELANOMA	-	-	-	-	CFHR5	uc001gts.4,p.P553S|ENST00000256785,p.P553S|NM_030787,p.P553S|ENST00000367414,p.P577S	protein_coding	uc001gts.4	nonsynonymous SNV	exon10	c.C1657T	p.P553S	CKFPHKAMISSPPFRAICQEGKFEY	CKFPHKAMISSPSFRAICQEGKFEY	1.0	1.0	unscreened	-	1913_1:196977760-196977760 C>T_CKFPHKAMISSPSFRAICQEGKFEY
17:15532470-15532470 T>C	1.0	1913	MELANOMA	-	-	-	-	TRIM16	ENST00000455584,p.Y385C|uc002gox.3,p.Y385C|ENST00000577886,p.Y169C|ENST00000577446,p.Y138C|ENST00000578237,p.Y385C|ENST00000416464,p.Y255C|uc002gow.3,p.Y169C|ENST00000336708,p.Y385C|uc002gor.1,p.Y385C|NM_006470,p.Y385C|uc002goy.3,p.Y255C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002goy.3	nonsynonymous SNV	exon7	c.A764G	p.Y255C	YDITFDPDTAHKYLRLQEENRKVTN	YDITFDPDTAHKCLRLQEENRKVTN	7.0	4.0	unscreened	-	1913_17:15532470-15532470 T>C_YDITFDPDTAHKCLRLQEENRKVTN
22:45278994-45278994 G>A	1.0	1913	MELANOMA	-	-	-	-	PHF21B	NM_001284296,p.T319I|ENST00000404079,p.T469I|uc011aql.2,p.T481I|uc003bfn.3,p.T523I|NM_138415,p.T523I|ENST00000396103,p.T481I|uc011aqk.2,p.T469I|ENST00000403565,p.T319I|NM_001242450,p.T469I|ENST00000313237,p.T523I|uc003bfm.3,p.T319I|NM_001135862,p.T481I	retained_intron, protein_coding, processed_transcript	uc011aql.2	nonsynonymous SNV	exon14	c.C1442T	p.T481I	PWTKPSVAATHPTVQHPQGHN	PWTKPSVAATHPIVQHPQGHN	6.0	5.0	unscreened	-	1913_22:45278994-45278994 G>A_PWTKPSVAATHPIVQHPQGHN
8:37698770-37698770 G>A	1.0	1913	MELANOMA	-	-	-	-	GPR124	NM_032777,p.E972K|ENST00000412232,p.E972K|uc010lvy.3,p.E755K|ENST00000315215,p.E755K|uc003xkj.3,p.E972K	retained_intron, protein_coding, processed_transcript	uc010lvy.3	nonsynonymous SNV	exon16	c.G2263A	p.E755K	AGNSRASLEAGEELRGSTRLRGSGP	AGNSRASLEAGEKLRGSTRLRGSGP	7.0	1.0	unscreened	-	1913_8:37698770-37698770 G>A_AGNSRASLEAGEKLRGSTRLRGSGP
11:4470621-4470621 G>A	0.0	1913	MELANOMA	-	-	-	-	OR52K2	NM_001005172,p.G18R|ENST00000325719,p.G18R|uc001lyz.2,p.G18R	protein_coding	uc001lyz.2	nonsynonymous SNV	exon1	c.G52A	p.G18R	ITLTHPTAFLLVGIPGLEHLHIWIS	ITLTHPTAFLLVRIPGLEHLHIWIS	1.0	4.0	unscreened	-	1913_11:4470621-4470621 G>A_ITLTHPTAFLLVRIPGLEHLHIWIS
7:5391485-5391485 G>A	1.0	1913	MELANOMA	-	-	-	-	TNRC18	NM_001080495,p.S1812F|ENST00000399537,p.S1812F|ENST00000430969,p.S1812F|uc003soi.4,p.S1812F	retained_intron, protein_coding	uc003soi.4	nonsynonymous SNV	exon17	c.C5435T	p.S1812F	FCLLLREAEARSSFSDSSEESFDQD	FCLLLREAEARSFFSDSSEESFDQD	9.0	4.0	unscreened	-	1913_7:5391485-5391485 G>A_FCLLLREAEARSFFSDSSEESFDQD
1:12855982-12855982 C>T	0.0	1913	MELANOMA	-	-	-	-	PRAMEF1	ENST00000400814,p.S176F|NM_001294139,p.S176F|uc001auj.2,p.S421F|NM_023013,p.S421F|ENST00000332296,p.S421F	protein_coding	uc001auj.2	nonsynonymous SNV	exon4	c.C1262T	p.S421F	LETYPAPEESLNSLVRVNWEIFTPL	LETYPAPEESLNFLVRVNWEIFTPL	1.0	1.0	unscreened	-	1913_1:12855982-12855982 C>T_LETYPAPEESLNFLVRVNWEIFTPL
X:130419276-130419276 C>T	0.0	1913	MELANOMA	-	-	-	-	IGSF1	uc022cdw.1,p.A182T|ENST00000361420,p.A182T|uc004ewf.2,p.A162T|ENST00000370904,p.A173T|NM_205833,p.A182T|ENST00000370903,p.A182T|uc004ewd.3,p.A182T|uc004ewg.3,p.A182T|uc004ewe.4,p.A182T|NM_001555,p.A182T|ENST00000370900,p.A182T|NM_001170963,p.A182T|NM_001170962,p.A173T|NM_001170961,p.A182T|uc022cdv.1,p.A173T|ENST00000370901,p.A182T|ENST00000370910,p.A173T	protein_coding, processed_transcript	uc022cdw.1	nonsynonymous SNV	exon5	c.G544A	p.A182T	EPVDYQVPTGTMAIFSIDNLTPEDE	EPVDYQVPTGTMTIFSIDNLTPEDE	1.0	9.0	unscreened	-	1913_X:130419276-130419276 C>T_EPVDYQVPTGTMTIFSIDNLTPEDE
13:101726910-101726910 C>A	0.0	1913	MELANOMA	-	-	-	-	NALCN	uc001vox.1,p.G1353V|NM_052867,p.G1353V|ENST00000251127,p.G1353V	retained_intron, protein_coding, processed_transcript	uc001vox.1	nonsynonymous SNV	exon36	c.G4058T	p.G1353V	GMFLLLLCYAFAGVVLFGTVKYGEN	GMFLLLLCYAFAVVVLFGTVKYGEN	1.0	9.0	unscreened	-	1913_13:101726910-101726910 C>A_GMFLLLLCYAFAVVVLFGTVKYGEN
19:19338320-19338320 C>T	0.0	1913	MELANOMA	-	-	-	-	NCAN	NM_004386,p.P631S|uc010ecc.1,p.P195S|ENST00000538881,p.P82S|ENST00000252575,p.P631S|uc002nlz.3,p.P631S	retained_intron, protein_coding	uc010ecc.1	nonsynonymous SNV	exon2	c.C583T	p.P195S	WEAFPVATSPDLPMMAMLRGPKEWM	WEAFPVATSPDLSMMAMLRGPKEWM	1.0	6.0	unscreened	-	1913_19:19338320-19338320 C>T_WEAFPVATSPDLSMMAMLRGPKEWM
9:126202644-126202644 C>T	1.0	1913	MELANOMA	-	-	-	-	DENND1A	uc004bob.1,p.G465R|ENST00000373620,p.G495R|ENST00000394215,p.G465R|uc004bnz.1,p.G495R|ENST00000394219,p.G463R|ENST00000373624,p.G495R|uc011lzm.1,p.G463R|uc004bny.1,p.G234R|uc004boa.1,p.G495R|NM_020946,p.G495R|uc011lzl.1,p.G270R|ENST00000542603,p.G237R|NM_024820,p.G495R	protein_coding, processed_transcript	uc011lzm.1	nonsynonymous SNV	exon17	c.G1387A	p.G463R	LREDRRPITVHFGQVRPPRPHVVKR	LREDRRPITVHFRQVRPPRPHVVKR	7.0	4.0	unscreened	-	1913_9:126202644-126202644 C>T_LREDRRPITVHFRQVRPPRPHVVKR
9:94058312-94058312 G>A	1.0	1913	MELANOMA	-	-	-	-	AUH	ENST00000422391,p.P216S|uc011ltu.1,p.P216S	protein_coding, processed_transcript	uc011ltu.1	nonsynonymous SNV	exon6	c.C646T	p.P216S	KMGLVETKLAIIPGGVTSSTEVLNP	KMGLVETKLAIISGGVTSSTEVLNP	6.0	4.0	unscreened	-	1913_9:94058312-94058312 G>A_KMGLVETKLAIISGGVTSSTEVLNP
1:158390148-158390148 G>A	0.0	1913	MELANOMA	-	-	-	-	OR10K2	uc010pii.2,p.S170F|ENST00000314902,p.S170F|NM_001004476,p.S170F	protein_coding	uc010pii.2	nonsynonymous SNV	exon1	c.C509T	p.S170F	IITSLVFHLPFYSSNQLHHFFCDIA	IITSLVFHLPFYFSNQLHHFFCDIA	1.0	3.0	unscreened	-	1913_1:158390148-158390148 G>A_IITSLVFHLPFYFSNQLHHFFCDIA
11:125831856-125831856 G>A	1.0	1913	MELANOMA	-	-	-	-	CDON	NM_016952,p.P1132S|ENST00000531738,p.P509S|uc001qdc.4,p.P1132S|uc001qdb.4,p.P509S|uc009zbw.3,p.P1132S|NM_001243597,p.P1132S|ENST00000263577,p.P1132S|ENST00000392693,p.P1132S	retained_intron, protein_coding, nonsense_mediated_decay	uc009zbw.3	nonsynonymous SNV	exon19	c.C3394T	p.P1132S	CFTKTNSTFSSSPPPVVPVVAPYPQ	CFTKTNSTFSSSSPPVVPVVAPYPQ	5.0	9.0	unscreened	-	1913_11:125831856-125831856 G>A_CFTKTNSTFSSSSPPVVPVVAPYPQ
3:122474259-122474259 G>A	1.0	1913	MELANOMA	-	-	-	-	HSPBAP1	ENST00000383659,p.S224F|uc003efv.2,p.S224F	protein_coding, processed_transcript	uc003efv.2	nonsynonymous SNV	exon6	c.C671T	p.S224F	KYLGLQETMASLSS	KYLGLQETMASLFS	6.0	9.0	unscreened	-	1913_3:122474259-122474259 G>A_KYLGLQETMASLFS
5:38502817-38502817 G>A	1.0	1913	MELANOMA	-	-	ID=COSM1213348,COSM1213349;OCCURENCE=2(large_intestine)	1	LIFR	uc010ive.1,p.R508W|ENST00000453190,p.R508W|uc003jli.2,p.R508W|NM_001127671,p.R508W|ENST00000263409,p.R508W|NM_002310,p.R508W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ive.1	nonsynonymous SNV	exon11	c.C1522T	p.R508W	LDKLNPYTLYTFRIRCSTETFWKWS	LDKLNPYTLYTFWIRCSTETFWKWS	4.0	9.0	unscreened	-	1913_5:38502817-38502817 G>A_LDKLNPYTLYTFWIRCSTETFWKWS
9:75435778-75435778 C>T	0.0	1913	MELANOMA	-	-	-	-	TMC1	ENST00000297784,p.P595L|uc010moz.1,p.P553L|uc004ajc.1,p.P449L|ENST00000340019,p.P595L|uc004aiz.1,p.P595L|ENST00000396237,p.P595L|NM_138691,p.P595L|uc010mpa.1,p.P449L	protein_coding, processed_transcript	uc010mpa.1	nonsynonymous SNV	exon15	c.C1346T	p.P449L	NQGMIWMGSFFAPSLPGINILRLHT	NQGMIWMGSFFALSLPGINILRLHT	1.0	6.0	unscreened	-	1913_9:75435778-75435778 C>T_NQGMIWMGSFFALSLPGINILRLHT
1:247978182-247978182 G>A	0.0	1913	MELANOMA	-	-	-	-	OR14A16	NM_001001966,p.P284S|uc001idm.1,p.P284S|ENST00000357627,p.P284S	protein_coding	uc001idm.1	nonsynonymous SNV	exon1	c.C850T	p.P284S	SVFYTMLPPTFNPIIYSLRNKAIKV	SVFYTMLPPTFNSIIYSLRNKAIKV	1.0	3.0	unscreened	-	1913_1:247978182-247978182 G>A_SVFYTMLPPTFNSIIYSLRNKAIKV
5:140558518-140558518 A>T	1.0	1913	MELANOMA	-	-	ID=COSM1261411;OCCURENCE=1(oesophagus)	-	PCDHB8	uc011dai.2,p.E301D|ENST00000239444,p.E301D|NM_019120,p.E301D	protein_coding	uc011dai.2	nonsynonymous SNV	exon1	c.A903T	p.E301D	ISKTFKVDFLTGEIRLKKQLDFEKF	ISKTFKVDFLTGDIRLKKQLDFEKF	4.0	1.0	unscreened	-	1913_5:140558518-140558518 A>T_ISKTFKVDFLTGDIRLKKQLDFEKF
10:11985107-11985107 G>A	1.0	1913	MELANOMA	-	-	-	-	UPF2	uc001ila.3,p.L1079F|uc001ilb.3,p.L1079F|NM_015542,p.L1079F|ENST00000397053,p.L1079F|ENST00000356352,p.L1079F|ENST00000357604,p.L1079F|uc001ilc.3,p.L1079F|NM_080599,p.L1079F	protein_coding, processed_transcript	uc001ilc.3	nonsynonymous SNV	exon17	c.C3235T	p.L1079F	EGEEEEEENTDYLTDSNKENETDEE	EGEEEEEENTDYFTDSNKENETDEE	6.0	5.0	unscreened	-	1913_10:11985107-11985107 G>A_EGEEEEEENTDYFTDSNKENETDEE
15:71188219-71188219 C>T	1.0	1913	MELANOMA	-	-	-	-	LRRC49	NM_001199017,p.S51L|ENST00000560369,p.S51L|uc010ukf.2,p.S51L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ukf.2	nonsynonymous SNV	exon3	c.C152T	p.S51L	KKVEFKLNKDTSSFPGRLLQHDLER	KKVEFKLNKDTSLFPGRLLQHDLER	5.0	6.0	unscreened	-	1913_15:71188219-71188219 C>T_KKVEFKLNKDTSLFPGRLLQHDLER
15:71188219-71188219 C>T	1.0	1913	MELANOMA	-	-	-	-	LRRC49	ENST00000560107,p.S46L|uc002asu.3,p.S36L|ENST00000560755,p.S46L|ENST00000260382,p.S46L|NM_001284357,p.S36L|NM_017691,p.S46L|uc002asw.3,p.S46L|ENST00000544974,p.S36L|ENST00000561081,p.S46L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002asw.3	nonsynonymous SNV	exon3	c.C137T	p.S46L	NKVEFKLNKDTSSFPGRLLQHDLER	NKVEFKLNKDTSLFPGRLLQHDLER	5.0	6.0	unscreened	-	1913_15:71188219-71188219 C>T_NKVEFKLNKDTSLFPGRLLQHDLER
7:14025765-14025765 G>A	0.0	1913	MELANOMA	-	-	-	1	ETV1	ENST00000399357,p.P13S|uc021zzt.1,p.P13S|ENST00000443608,p.P13S|uc021zzw.1,p.P13S|uc021zzx.1,p.P13S|NM_001163150,p.P13S|ENST00000403527,p.P13S|NM_001163152,p.P13S|uc021zzu.1,p.P13S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zzx.1	nonsynonymous SNV	exon1	c.C37T	p.P13S	MLQDLSASVFFPPCSQHRTLAQVPD	MLQDLSASVFFPSCSQHRTLAQVPD	10.0	7.0	unscreened	-	1913_7:14025765-14025765 G>A_MLQDLSASVFFPSCSQHRTLAQVPD
13:46917593-46917593 G>A	1.0	1913	MELANOMA	-	-	-	-	KIAA0226L	NM_001286764,p.S504F|NM_001286761,p.S639F|NM_001286766,p.S424F|uc010acn.3,p.S424F|uc010acl.3,p.S639F|ENST00000534925,p.S504F|ENST00000378784,p.S572F|uc010tfz.2,p.S482F|ENST00000322896,p.S482F|ENST00000409879,p.S482F|ENST00000429979,p.S639F|uc010acm.3,p.S504F|uc001vbi.4,p.S482F|NM_001286763,p.S572F|ENST00000389908,p.S639F|uc010tfy.2,p.S162F|NM_025113,p.S639F|uc001vbh.4,p.S639F|NM_001286765,p.S482F|uc001vbf.4,p.S572F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tfz.2	nonsynonymous SNV	exon14	c.C1445T	p.S482F	CRACFHKQCFQSSECPRCARITARR	CRACFHKQCFQSFECPRCARITARR	5.0	9.0	unscreened	-	1913_13:46917593-46917593 G>A_CRACFHKQCFQSFECPRCARITARR
11:5246908-5246908 C>T	0.0	1913	MELANOMA	-	-	-	-	HBB	NM_000518,p.E122K|ENST00000335295,p.E122K|uc001mae.1,p.E122K	retained_intron, protein_coding	uc001mae.1	nonsynonymous SNV	exon3	c.G364A	p.E122K	VLVCVLAHHFGKEFTPPVQAAYQKV	VLVCVLAHHFGKKFTPPVQAAYQKV	10.0	1.0	unscreened	-	1913_11:5246908-5246908 C>T_VLVCVLAHHFGKKFTPPVQAAYQKV
20:52601857-52601857 G>A	1.0	1913	MELANOMA	-	-	-	-	BCAS1	NM_003657,p.S370F|ENST00000395961,p.S370F|ENST00000371435,p.S370F|uc002xws.2,p.S370F|uc010zzb.1,p.S318F|uc010gil.1,p.S370F	protein_coding	uc010zzb.1	nonsynonymous SNV	exon5	c.C953T	p.S318F	AKEGTKEKSGPTSLPLGKLFWKKSV	AKEGTKEKSGPTFLPLGKLFWKKSV	3.0	9.0	unscreened	-	1913_20:52601857-52601857 G>A_AKEGTKEKSGPTFLPLGKLFWKKSV
9:139733500-139733500 G>A	1.0	1913	MELANOMA	-	-	-	-	RABL6	uc010nbs.1,p.E359K|uc004cjj.1,p.E475K|ENST00000435930,p.E268K|NM_024718,p.E474K|ENST00000432842,p.E436K|ENST00000371675,p.E359K|ENST00000311502,p.E474K|ENST00000464941,p.E436K|uc004cji.1,p.E474K|NM_001173988,p.E475K|ENST00000371663,p.E475K|uc004cjn.1,p.E268K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010nbs.1	nonsynonymous SNV	exon11	c.G1075A	p.E359K	VPSQDITLSSEEEAEVAAPTKGPAP	VPSQDITLSSEEKAEVAAPTKGPAP	9.0	1.0	unscreened	-	1913_9:139733500-139733500 G>A_VPSQDITLSSEEKAEVAAPTKGPAP
17:16667506-16667506 C>T	0.0	1913	MELANOMA	-	-	-	-	CCDC144A	uc002gql.1,p.S888F|ENST00000456009,p.S1138F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gql.1	nonsynonymous SNV	exon12	c.C2663T	p.S888F	MESYLLKVSYLFSFGVQISDRILVC	MESYLLKVSYLFFFGVQISDRILVC	2.0	6.0	unscreened	-	1913_17:16667506-16667506 C>T_MESYLLKVSYLFFFGVQISDRILVC
17:79994856-79994856 C>T	1.0	1913	MELANOMA	-	-	-	-	DCXR	ENST00000579155,p.G35S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000579155	nonsynonymous SNV	exon2	c.G103A	p.G35S	KCPGIEPVCVDLGDWEATERALGSV	KCPGIEPVCVDLSDWEATERALGSV	10.0	5.0	unscreened	-	1913_17:79994856-79994856 C>T_KCPGIEPVCVDLSDWEATERALGSV
17:79994856-79994856 C>T	1.0	1913	MELANOMA	-	-	-	-	DCXR	ENST00000582900,p.G60S|uc002kdg.3,p.G62S|NM_016286,p.G62S|NM_001195218,p.G60S|ENST00000306869,p.G62S|uc021ufk.1,p.G60S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ufk.1	nonsynonymous SNV	exon3	c.G178A	p.G60S	ECPGIEPVCVDLGDWEATERALGSV	ECPGIEPVCVDLSDWEATERALGSV	10.0	5.0	unscreened	-	1913_17:79994856-79994856 C>T_ECPGIEPVCVDLSDWEATERALGSV
2:178988944-178988944 C>T	1.0	1913	MELANOMA	-	-	-	-	RBM45	uc002ulv.3,p.P387S|NM_152945,p.P387S|ENST00000286070,p.P387S	retained_intron, protein_coding, processed_transcript	uc002ulv.3	nonsynonymous SNV	exon8	c.C1159T	p.P387S	LPSCKKKAPAETPVKERLFIVFNPH	LPSCKKKAPAETSVKERLFIVFNPH	7.0	5.0	unscreened	-	1913_2:178988944-178988944 C>T_LPSCKKKAPAETSVKERLFIVFNPH
20:52601857-52601857 G>A	1.0	1913	MELANOMA	-	-	-	-	BCAS1	ENST00000434986,p.S128F|uc010zza.1,p.S128F|uc010gim.2,p.S318F	protein_coding	uc010zza.1	nonsynonymous SNV	exon4	c.C383T	p.S128F	AKEGTKEKSGPTSLPLGKLFWKKTS	AKEGTKEKSGPTFLPLGKLFWKKTS	3.0	9.0	unscreened	-	1913_20:52601857-52601857 G>A_AKEGTKEKSGPTFLPLGKLFWKKTS
11:55944743-55944743 C>T	0.0	1913	MELANOMA	-	-	-	-	OR5J2	ENST00000312298,p.S217F|uc010rjb.2,p.S217F|NM_001005492,p.S217F	protein_coding	uc010rjb.2	nonsynonymous SNV	exon1	c.C650T	p.S217F	VIAMATFLTVIISYIFIAFASLRIH	VIAMATFLTVIIFYIFIAFASLRIH	1.0	1.0	unscreened	-	1913_11:55944743-55944743 C>T_VIAMATFLTVIIFYIFIAFASLRIH
22:42416083-42416083 T>G	1.0	1913	MELANOMA	-	-	-	-	WBP2NL	ENST00000328823,p.V130G|ENST00000543212,p.V56G|uc003bbt.3,p.V130G|ENST00000436265,p.V130G|NM_152613,p.V130G|ENST00000329620,p.V130G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003bbt.3	nonsynonymous SNV	exon4	c.T389G	p.V130G	RNGDAIEFAQLMVKAASAAARGFPL	RNGDAIEFAQLMGKAASAAARGFPL	5.0	4.0	unscreened	-	1913_22:42416083-42416083 T>G_RNGDAIEFAQLMGKAASAAARGFPL
14:88897529-88897529 T>A	1.0	1913	MELANOMA	-	-	-	-	SPATA7	NM_001040428,p.Y316N|ENST00000045347,p.Y348N|uc001xwq.3,p.Y348N|ENST00000393545,p.Y348N|NM_018418,p.Y348N|uc001xws.3,p.Y284N|uc001xwt.3,p.Y242N|ENST00000356583,p.Y316N|uc001xwr.3,p.Y316N|ENST00000556553,p.Y316N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xwt.3	nonsynonymous SNV	exon5	c.T724A	p.Y242N	ALQHSSPRAMCQYSLKPPSTRKIYS	ALQHSSPRAMCQNSLKPPSTRKIYS	6.0	2.0	unscreened	-	1913_14:88897529-88897529 T>A_ALQHSSPRAMCQNSLKPPSTRKIYS
1:89479044-89479044 T>A	1.0	1913	MELANOMA	-	-	-	-	GBP3	uc010oss.2,p.K152I|NM_018284,p.K231I|ENST00000489444,p.K231I|uc021opp.1,p.K231I|uc001dmu.3,p.K97I|uc001dmt.3,p.K231I|ENST00000370481,p.K231I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021opp.1	nonsynonymous SNV	exon6	c.A692T	p.K231I	LPRLCIRKFFPKKKCFVFDLPIHRR	LPRLCIRKFFPKIKCFVFDLPIHRR	3.0	9.0	unscreened	-	1913_1:89479044-89479044 T>A_LPRLCIRKFFPKIKCFVFDLPIHRR
21:45924705-45924705 G>A	1.0	1913	MELANOMA	-	-	-	-	TSPEAR	uc002zfe.1,p.S605F|NM_001272037,p.S537F|NM_144991,p.S605F|ENST00000323084,p.S605F|uc010gpv.1,p.S537F	protein_coding	uc010gpv.1	nonsynonymous SNV	exon12	c.C1610T	p.S537F	SVGEDYFLVVANSFDGRTFSVNSII	SVGEDYFLVVANFFDGRTFSVNSII	3.0	4.0	unscreened	-	1913_21:45924705-45924705 G>A_SVGEDYFLVVANFFDGRTFSVNSII
17:17880955-17880955 G>A	0.0	1913	MELANOMA	-	-	-	-	LRRC48	NM_031294,p.D15N|ENST00000479684,p.D15N|uc021trj.1,p.D15N|NM_001130092,p.D15N|ENST00000582416,p.D15N|ENST00000411504,p.D15N|uc021tri.1,p.D15N|ENST00000399182,p.D15N|ENST00000313838,p.D15N|uc010vxe.2,p.D15N|NM_001130091,p.D15N|uc021trk.1,p.D15N|ENST00000585108,p.D15N|ENST00000399187,p.D15N|ENST00000581264,p.D15N|ENST00000584166,p.D15N|NM_001130090,p.D15N|ENST00000579977,p.D15N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021trk.1	nonsynonymous SNV	exon3	c.G43A	p.D15N	QPCNSMEPRVMDDDMLKLAVGDQGP	QPCNSMEPRVMDNDMLKLAVGDQGP	6.0	5.0	unscreened	-	1913_17:17880955-17880955 G>A_QPCNSMEPRVMDNDMLKLAVGDQGP
1:3542021-3542021 C>T	1.0	1913	MELANOMA	-	-	-	-	TPRG1L	ENST00000378344,p.R79C|NM_182752,p.R79C|uc009vlj.3,p.R79C|uc001akm.3,p.R79C|ENST00000344579,p.R79C	protein_coding	uc009vlj.3	nonsynonymous SNV	exon2	c.C235T	p.R79C	RPGSIEQAVEEIRVVVRPVEDGEIQ	RPGSIEQAVEEICVVVRPVEDGEIQ	8.0	2.0	unscreened	-	1913_1:3542021-3542021 C>T_RPGSIEQAVEEICVVVRPVEDGEIQ
1:3542021-3542021 C>T	1.0	1913	MELANOMA	-	-	-	-	TPRG1L	uc031pkw.1,p.R36C	protein_coding	uc031pkw.1	nonsynonymous SNV	exon2	c.C106T	p.R36C	EPGSIEQAVEEIRVVVRPVEDGEIQ	EPGSIEQAVEEICVVVRPVEDGEIQ	8.0	2.0	unscreened	-	1913_1:3542021-3542021 C>T_EPGSIEQAVEEICVVVRPVEDGEIQ
11:124310578-124310578 G>A	0.0	1913	MELANOMA	-	-	-	-	OR8B8	ENST00000328064,p.T135I|uc010sal.2,p.T135I|NM_012378,p.T135I	protein_coding	uc010sal.2	nonsynonymous SNV	exon1	c.C404T	p.T135I	YVAICNPLLYMVTMSPQVCFLLLLG	YVAICNPLLYMVIMSPQVCFLLLLG	1.0	9.0	unscreened	-	1913_11:124310578-124310578 G>A_YVAICNPLLYMVIMSPQVCFLLLLG
1:158368662-158368662 C>G	0.0	1913	MELANOMA	-	-	-	-	OR10T2	uc010pih.2,p.A199P|NM_001004475,p.A199P|ENST00000334438,p.A199P	protein_coding	uc010pih.2	nonsynonymous SNV	exon1	c.G595C	p.A199P	KLACTDTHVKELALFSLSILVIMVP	KLACTDTHVKELPLFSLSILVIMVP	1.0	9.0	unscreened	-	1913_1:158368662-158368662 C>G_KLACTDTHVKELPLFSLSILVIMVP
11:55944941-55944941 C>T	0.0	1913	MELANOMA	-	-	-	-	OR5J2	ENST00000312298,p.P283L|NM_001005492,p.P283L|uc010rjb.2,p.P283L	protein_coding	uc010rjb.2	nonsynonymous SNV	exon1	c.C848T	p.P283L	EKVVSMFYTLGIPMLNLLIHSLRNK	EKVVSMFYTLGILMLNLLIHSLRNK	1.0	1.0	unscreened	-	1913_11:55944941-55944941 C>T_EKVVSMFYTLGILMLNLLIHSLRNK
7:43917887-43917887 C>T	1.0	1913	MELANOMA	-	-	ID=COSM1450863,COSM1450864;OCCURENCE=1(large_intestine)	-	URGCP	uc003tiz.3,p.G349E|ENST00000223341,p.G349E|ENST00000453200,p.G392E|ENST00000447717,p.G349E|uc011kbj.2,p.G349E|NM_001290076,p.G349E|ENST00000443736,p.G349E|ENST00000336086,p.G349E|uc003tiw.3,p.G392E|NM_017920,p.G383E|ENST00000402306,p.G383E|NM_001077664,p.G349E|NM_001290075,p.G349E|NM_001077663,p.G392E|uc003tiu.3,p.G349E|uc003tix.3,p.G383E|uc003tiy.3,p.G349E|uc003tiv.3,p.G317E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kbj.2	nonsynonymous SNV	exon7	c.G1046A	p.G349E	TTKYYFILSPYRGKRNTNLRFLNKL	TTKYYFILSPYREKRNTNLRFLNKL	8.0	5.0	unscreened	-	1913_7:43917887-43917887 C>T_TTKYYFILSPYREKRNTNLRFLNKL
2:101627970-101627970 G>A	1.0	1913	MELANOMA	-	-	-	-	TBC1D8	uc010fiv.3,p.P939S|NM_001102426,p.P939S|ENST00000409318,p.P954S|uc002tau.4,p.P696S|ENST00000376840,p.P939S	retained_intron, protein_coding, processed_transcript	uc010fiv.3	nonsynonymous SNV	exon18	c.C2815T	p.P939S	PALTENDRDSQSPLRNPLLSTSRPL	PALTENDRDSQSSLRNPLLSTSRPL	7.0	6.0	unscreened	-	1913_2:101627970-101627970 G>A_PALTENDRDSQSSLRNPLLSTSRPL
16:20959854-20959854 G>A	0.0	1913	MELANOMA	-	-	-	-	DNAH3	uc010vbd.2,p.S1200F|uc010vbe.2,p.S3765F|NM_017539,p.S3765F|ENST00000261383,p.S3765F	retained_intron, protein_coding, processed_transcript	uc010vbe.2	nonsynonymous SNV	exon57	c.C11294T	p.S3765F	MFYCKEIEEDYYSLAPGDTYYIPPH	MFYCKEIEEDYYFLAPGDTYYIPPH	1.0	1.0	unscreened	-	1913_16:20959854-20959854 G>A_MFYCKEIEEDYYFLAPGDTYYIPPH
11:608164-608164 C>T	1.0	1913	MELANOMA	-	-	-	-	PHRF1	uc001lqe.3,p.S903F|uc010qwd.2,p.S901F|NM_001286581,p.S903F|uc009ybz.1,p.S693F|NM_020901,p.S902F|ENST00000533464,p.S899F|NM_001286582,p.S901F|NM_001286583,p.S899F|ENST00000264555,p.S903F|uc010qwc.2,p.S902F|ENST00000416188,p.S902F|uc010qwe.2,p.S899F|ENST00000413872,p.S901F|ENST00000534320,p.S903F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qwe.2	nonsynonymous SNV	exon14	c.C2696T	p.S899F	EPEPPLGPSSAMSKLRGAVAAEGAS	EPEPPLGPSSAMFKLRGAVAAEGAS	7.0	9.0	unscreened	-	1913_11:608164-608164 C>T_EPEPPLGPSSAMFKLRGAVAAEGAS
17:6373653-6373653 G>A	0.0	1913	MELANOMA	-	-	-	-	PITPNM3	uc010clm.3,p.T50I|NM_031220,p.T567I|uc002gdd.4,p.T567I|uc010cln.3,p.T531I|ENST00000262483,p.T567I|ENST00000421306,p.T531I|NM_001165966,p.T531I	retained_intron, protein_coding, processed_transcript	uc010cln.3	nonsynonymous SNV	exon12	c.C1592T	p.T531I	ALYCPDVLTAFPTVALPHLFHASYW	ALYCPDVLTAFPIVALPHLFHASYW	4.0	9.0	unscreened	-	1913_17:6373653-6373653 G>A_ALYCPDVLTAFPIVALPHLFHASYW
5:140559380-140559380 A>G	0.0	1913	MELANOMA	-	-	-	-	PCDHB8	NM_019120,p.K589E|uc011dai.2,p.K589E|ENST00000239444,p.K589E	protein_coding	uc011dai.2	nonsynonymous SNV	exon1	c.A1765G	p.K589E	VPRAAEPGYLVTKVVAVDGDSGQNA	VPRAAEPGYLVTEVVAVDGDSGQNA	4.0	2.0	unscreened	-	1913_5:140559380-140559380 A>G_VPRAAEPGYLVTEVVAVDGDSGQNA
2:122285400-122285400 G>A	1.0	1913	MELANOMA	-	-	-	-	CLASP1	uc002tnc.3,p.L149F|uc010yza.2,p.L149F|uc010yyz.2,p.L149F|ENST00000455322,p.L149F|NM_001207051,p.L149F|ENST00000541377,p.L149F|NM_001142274,p.L149F|ENST00000397587,p.L149F|NM_015282,p.L149F|uc002tng.1,p.L149F|ENST00000409078,p.L149F|ENST00000263710,p.L149F|uc021vnl.1,p.L149F|NM_001142273,p.L149F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vnl.1	nonsynonymous SNV	exon5	c.C445T	p.L149F	KHKNFRTREGICLCLIATLNASGAQ	KHKNFRTREGICFCLIATLNASGAQ	9.0	5.0	unscreened	-	1913_2:122285400-122285400 G>A_KHKNFRTREGICFCLIATLNASGAQ
13:52972050-52972050 G>A	0.0	1913	MELANOMA	0.0014	-	-	-	THSD1	uc001vgo.3,p.P113L|NM_018676,p.P113L|NM_199263,p.P113L|ENST00000258613,p.P113L|uc001vgp.3,p.P113L|ENST00000349258,p.P113L	protein_coding	uc001vgp.3	nonsynonymous SNV	exon3	c.C338T	p.P113L	FTMTPEATDNSTPFPWWEKSAFLKV	FTMTPEATDNSTLFPWWEKSAFLKV	4.0	9.0	unscreened	-	1913_13:52972050-52972050 G>A_FTMTPEATDNSTLFPWWEKSAFLKV
21:37617589-37617589 C>T	1.0	1913	MELANOMA	-	-	-	-	DOPEY2	ENST00000399151,p.P1104L|uc002yvg.3,p.P1104L|uc011aeb.2,p.P1053L|NM_005128,p.P1104L	retained_intron, protein_coding, processed_transcript	uc011aeb.2	nonsynonymous SNV	exon17	c.C3158T	p.P1053L	YVELPDRTAHGAPDSSEHTESADTS	YVELPDRTAHGALDSSEHTESADTS	6.0	3.0	unscreened	-	1913_21:37617589-37617589 C>T_YVELPDRTAHGALDSSEHTESADTS
6:31928019-31928019 C>T	1.0	1913	MELANOMA	-	-	-	-	SKIV2L	ENST00000461073,p.P87S|ENST00000375394,p.P87S|uc003nyn.1,p.P87S|NM_006929,p.P87S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003nyn.1	nonsynonymous SNV	exon4	c.C259T	p.P87S	EHSARKWQRKTDPWSLLAVLGAPVP	EHSARKWQRKTDSWSLLAVLGAPVP	9.0	2.0	unscreened	-	1913_6:31928019-31928019 C>T_EHSARKWQRKTDSWSLLAVLGAPVP
6:136596762-136596762 G>A	0.0	1913	MELANOMA	-	-	-	2	BCLAF1	NM_001077441,p.S414F|uc011ede.1,p.S585F|uc003qgx.1,p.S587F|ENST00000532384,p.S587F|uc003qgy.1,p.S585F|ENST00000530767,p.S414F|NM_001301038,p.S585F|ENST00000527613,p.S587F|NM_001077440,p.S585F|ENST00000534269,p.S412F|ENST00000353331,p.S585F|ENST00000531224,p.S587F|ENST00000527759,p.S585F|ENST00000527536,p.S587F|ENST00000529826,p.S587F|NM_014739,p.S587F|ENST00000392348,p.S585F|uc003qgw.1,p.S414F|ENST00000530429,p.S585F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ede.1	nonsynonymous SNV	exon6	c.C1754T	p.S585F	LVHSVKKEQEFRSIFDHIKLPQASK	LVHSVKKEQEFRFIFDHIKLPQASK	9.0	1.0	unscreened	-	1913_6:136596762-136596762 G>A_LVHSVKKEQEFRFIFDHIKLPQASK
11:84245717-84245717 G>A	0.0	1913	MELANOMA	-	-	-	-	DLG2	uc001pal.1,p.H34Y|uc010rta.1,p.H34Y|NM_001364,p.H34Y|NM_001142699,p.H139Y|ENST00000543673,p.H139Y|ENST00000532653,p.H34Y|uc001pak.2,p.H139Y|ENST00000524982,p.H34Y|ENST00000376104,p.H139Y|ENST00000527088,p.H55Y|NM_001300983,p.H34Y|uc010rsz.1,p.H34Y|ENST00000398309,p.H34Y|uc001paj.2,p.H34Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rta.1	nonsynonymous SNV	exon2	c.C100T	p.H34Y	DAPHDHSLPRLTHEVRGPELVHVSE	DAPHDHSLPRLTYEVRGPELVHVSE	4.0	9.0	unscreened	-	1913_11:84245717-84245717 G>A_DAPHDHSLPRLTYEVRGPELVHVSE
15:90348436-90348436 G>A	0.0	1913	MELANOMA	-	-	-	-	ANPEP	ENST00000300060,p.P257L|ENST00000560028,p.P22L|uc002bop.4,p.P257L|NM_001150,p.P257L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bop.4	nonsynonymous SNV	exon4	c.C770T	p.P257L	ALSNMLPKGPSTPLPEDPNWNVTEF	ALSNMLPKGPSTLLPEDPNWNVTEF	5.0	8.0	unscreened	-	1913_15:90348436-90348436 G>A_ALSNMLPKGPSTLLPEDPNWNVTEF
2:211540531-211540531 A>C	1.0	1913	MELANOMA	-	-	-	-	CPS1	ENST00000451903,p.E963A|ENST00000233072,p.E1414A|NM_001875,p.E1414A|NM_001122634,p.E963A|ENST00000430249,p.E1420A|uc002vee.4,p.E1414A|NM_001122633,p.E1420A|uc010fus.3,p.E963A|uc010fur.3,p.E1420A	retained_intron, protein_coding, processed_transcript	uc010fus.3	nonsynonymous SNV	exon26	c.A2888C	p.E963A	NVPATPVAWPSQEGQNPSLSSIRKL	NVPATPVAWPSQAGQNPSLSSIRKL	6.0	2.0	unscreened	-	1913_2:211540531-211540531 A>C_NVPATPVAWPSQAGQNPSLSSIRKL
3:119316774-119316774 C>T	0.0	1913	MELANOMA	-	-	-	-	PLA1A	NM_001206960,p.P5L|ENST00000495992,p.P5L|uc003ecu.3,p.P5L|NM_015900,p.P5L|uc003ecv.3,p.P5L|ENST00000273371,p.P5L	retained_intron, protein_coding	uc003ecv.3	nonsynonymous SNV	exon1	c.C14T	p.P5L	MPPGPWESCFWVGGLIL	MPPGLWESCFWVGGLIL	1.0	1.0	unscreened	-	1913_3:119316774-119316774 C>T_MPPGLWESCFWVGGLIL
10:69407186-69407186 G>A	0.0	1913	MELANOMA	-	-	-	-	CTNNA3	uc009xpn.1,p.P29L|ENST00000433211,p.P29L|ENST00000373744,p.P29L|ENST00000330298,p.P29L|uc001jmx.4,p.P29L|NM_001291133,p.P41L|NM_001127384,p.P29L|uc001jmw.2,p.P29L|NM_013266,p.P29L|uc001jna.2,p.P41L|ENST00000545309,p.P29L	protein_coding, processed_transcript, nonsense_mediated_decay	uc009xpn.1	nonsynonymous SNV	exon2	c.C86T	p.P29L	QVQTFTVEKLLEPLIIQVTTLVNCP	QVQTFTVEKLLELLIIQVTTLVNCP	1.0	5.0	unscreened	-	1913_10:69407186-69407186 G>A_QVQTFTVEKLLELLIIQVTTLVNCP
13:94482794-94482794 C>T	1.0	1913	MELANOMA	-	-	-	-	GPC6	uc001vlt.3,p.S236F|ENST00000377047,p.S236F|NM_005708,p.S236F|uc010tig.1,p.S236F	protein_coding	uc010tig.1	nonsynonymous SNV	exon3	c.C707T	p.S236F	GLTVGREVANRVSKVSPTPGCIRAL	GLTVGREVANRVFKVSPTPGCIRAL	8.0	9.0	unscreened	-	1913_13:94482794-94482794 C>T_GLTVGREVANRVFKVSPTPGCIRAL
5:54624576-54624576 T>C	1.0	1913	MELANOMA	-	-	-	-	SKIV2L2	uc011cqi.2,p.V50A|uc003jpy.4,p.V151A|ENST00000230640,p.V151A|NM_015360,p.V151A|ENST00000545714,p.V50A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cqi.2	nonsynonymous SNV	exon3	c.T149C	p.V50A	ILDAFQREAIQCVDNNQSVLVSAHT	ILDAFQREAIQCADNNQSVLVSAHT	9.0	9.0	unscreened	-	1913_5:54624576-54624576 T>C_ILDAFQREAIQCADNNQSVLVSAHT
1:57216764-57216764 T>A	0.0	1913	MELANOMA	-	-	-	-	C1orf168	NM_001004303,p.N447I|uc001cym.4,p.N447I|ENST00000343433,p.N447I	retained_intron, protein_coding, processed_transcript	uc001cym.4	nonsynonymous SNV	exon9	c.A1340T	p.N447I	GKQEAMIDIIQTNPCPEGPKLARHS	GKQEAMIDIIQTIPCPEGPKLARHS	1.0	9.0	unscreened	-	1913_1:57216764-57216764 T>A_GKQEAMIDIIQTIPCPEGPKLARHS
11:47434994-47434994 G>A	1.0	1913	MELANOMA	-	-	-	-	SLC39A13	uc009ylq.3,p.G194E|NM_152264,p.G194E|uc001nfd.3,p.G194E|ENST00000526614,p.G194E|ENST00000354884,p.G194E|ENST00000362021,p.G194E|ENST00000533076,p.G194E|ENST00000524928,p.G194E|uc001nff.4,p.G194E|NM_001128225,p.G194E	protein_coding, processed_transcript	uc009ylq.3	nonsynonymous SNV	exon5	c.G581A	p.G194E	NKDPTAAAAALNGGHCLAQPAAEPG	NKDPTAAAAALNEGHCLAQPAAEPG	9.0	2.0	unscreened	-	1913_11:47434994-47434994 G>A_NKDPTAAAAALNEGHCLAQPAAEPG
22:26222432-26222432 G>A	0.0	1913	MELANOMA	-	-	-	-	MYO18B	uc010guz.1,p.E799K|uc003aca.1,p.E799K|ENST00000335473,p.E918K|uc011akb.1,p.E431K|ENST00000407587,p.E918K|uc011aka.1,p.E72K|uc010guy.1,p.E799K|uc003abz.1,p.E918K|ENST00000536101,p.E918K|NM_032608,p.E918K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011akb.1	nonsynonymous SNV	exon10	c.G1291A	p.E431K	DCVEGMASGLYQELFAAVVSLINRS	DCVEGMASGLYQKLFAAVVSLINRS	1.0	4.0	unscreened	-	1913_22:26222432-26222432 G>A_DCVEGMASGLYQKLFAAVVSLINRS
17:41960419-41960419 G>A	0.0	1913	MELANOMA	-	-	-	-	MPP2	NM_001278376,p.S119F|NM_001278375,p.S91F|ENST00000523501,p.S91F|ENST00000518766,p.S147F|ENST00000461854,p.S126F|NM_001278370,p.S147F|uc002ien.1,p.S119F|ENST00000536246,p.S91F|ENST00000520406,p.S102F|ENST00000377184,p.S119F|uc010wio.1,p.S91F|NM_001278372,p.S126F|ENST00000523934,p.S102F|ENST00000520241,p.S108F|uc010wip.1,p.S147F|NM_001278373,p.S91F|NM_001278371,p.S91F|uc010czm.1,p.S85F|ENST00000269095,p.S102F|ENST00000523220,p.S85F|NM_001278381,p.S102F|uc010wim.1,p.S91F|ENST00000521178,p.S102F|NM_005374,p.S102F|uc002ieo.1,p.S102F|ENST00000523762,p.S91F	retained_intron, protein_coding, processed_transcript	uc010wip.1	nonsynonymous SNV	exon5	c.C440T	p.S147F	ELAHILQEPHFQSLLETHDSVASKT	ELAHILQEPHFQFLLETHDSVASKT	4.0	9.0	unscreened	-	1913_17:41960419-41960419 G>A_ELAHILQEPHFQFLLETHDSVASKT
10:17363259-17363259 G>A	0.0	1913	MELANOMA	-	-	-	-	ST8SIA6	ENST00000377602,p.S272F|NM_001004470,p.S272F|uc001ipd.3,p.S272F	protein_coding, processed_transcript	uc001ipd.3	nonsynonymous SNV	exon8	c.C815T	p.S272F	TYGDAFFLLPAFSFRANTGTSFKVY	TYGDAFFLLPAFFFRANTGTSFKVY	2.0	4.0	unscreened	-	1913_10:17363259-17363259 G>A_TYGDAFFLLPAFFFRANTGTSFKVY
X:130678289-130678289 C>T	0.0	1913	MELANOMA	-	-	-	-	OR13H1	ENST00000338616,p.A81V|uc011muw.2,p.A81V|NM_001004486,p.A81V	protein_coding	uc011muw.2	nonsynonymous SNV	exon1	c.C242T	p.A81V	LDLCYGTASMPQALVHCFSTHPYLS	LDLCYGTASMPQVLVHCFSTHPYLS	1.0	9.0	unscreened	-	1913_X:130678289-130678289 C>T_LDLCYGTASMPQVLVHCFSTHPYLS
1:173915932-173915932 G>A	1.0	1913	MELANOMA	-	-	-	-	RC3H1	uc010pms.2,p.P927L|ENST00000367694,p.P927L|ENST00000367696,p.P927L|uc010pmt.2,p.P927L|NM_172071,p.P927L|uc001gjv.3,p.P927L|NM_001300851,p.P927L|NM_001300852,p.P927L|uc001gju.4,p.P927L|NM_001300850,p.P927L|ENST00000258349,p.P927L	retained_intron, protein_coding	uc010pmt.2	nonsynonymous SNV	exon15	c.C2780T	p.P927L	SPYGTHGGWGASPYSPHQNIPSQGH	SPYGTHGGWGASLYSPHQNIPSQGH	5.0	2.0	unscreened	-	1913_1:173915932-173915932 G>A_SPYGTHGGWGASLYSPHQNIPSQGH
1:247875864-247875864 T>C	0.0	1913	MELANOMA	-	-	-	-	OR6F1	ENST00000302084,p.N65S|uc001idj.1,p.N65S|NM_001005286,p.N65S	protein_coding	uc001idj.1	nonsynonymous SNV	exon1	c.A194G	p.N65S	HQLHTPMYFFLSNLSFLEIWYTTAA	HQLHTPMYFFLSSLSFLEIWYTTAA	1.0	2.0	unscreened	-	1913_1:247875864-247875864 T>C_HQLHTPMYFFLSSLSFLEIWYTTAA
6:47650319-47650319 C>T	0.0	1913	MELANOMA	-	-	-	-	GPR111	uc003oyy.3,p.S607F|ENST00000398742,p.S607F|ENST00000467205,p.S607F|uc010jzj.1,p.S675F|ENST00000296862,p.S675F|ENST00000507065,p.S607F|NM_153839,p.S607F	protein_coding, nonsense_mediated_decay	uc010jzj.1	nonsynonymous SNV	exon6	c.C2024T	p.S675F	WGFGVATVIDDRSLAFHIIFSLLNA	WGFGVATVIDDRFLAFHIIFSLLNA	1.0	9.0	unscreened	-	1913_6:47650319-47650319 C>T_WGFGVATVIDDRFLAFHIIFSLLNA
15:60803598-60803598 G>A	1.0	1913	MELANOMA	-	-	-	-	RORA	ENST00000261523,p.S249F|uc002agx.3,p.S216F|NM_134261,p.S216F|uc002agt.4,p.S161F|NM_134262,p.S161F|ENST00000309157,p.S241F|uc002agv.3,p.S249F|NM_134260,p.S249F|ENST00000335670,p.S216F|uc002agw.3,p.S241F|uc021sni.1,p.S160F|NM_002943,p.S241F|ENST00000449337,p.S161F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021sni.1	nonsynonymous SNV	exon4	c.C479T	p.S160F	IDGHTPEGSKADSAVSSFYLDIQPS	IDGHTPEGSKADFAVSSFYLDIQPS	3.0	3.0	unscreened	-	1913_15:60803598-60803598 G>A_IDGHTPEGSKADFAVSSFYLDIQPS
12:55421014-55421014 C>T	0.0	1913	MELANOMA	-	-	-	-	NEUROD4	uc001sgp.4,p.S264F|uc021qyr.1,p.S264F|NM_021191,p.S264F|ENST00000242994,p.S264F	protein_coding	uc021qyr.1	nonsynonymous SNV	exon1	c.C791T	p.S264F	PLTPPLSISGNFSLKQDGSPDLEKS	PLTPPLSISGNFFLKQDGSPDLEKS	1.0	8.0	unscreened	-	1913_12:55421014-55421014 C>T_PLTPPLSISGNFFLKQDGSPDLEKS
8:56436226-56436226 C>T	1.0	1913	MELANOMA	-	-	-	-	XKR4	NM_052898,p.L465F|ENST00000327381,p.L465F|uc003xsf.3,p.L465F	protein_coding	uc003xsf.3	nonsynonymous SNV	exon3	c.C1393T	p.L465F	TRCRLFIYYFVILLENTALSALWYL	TRCRLFIYYFVIFLENTALSALWYL	1.0	7.0	unscreened	-	1913_8:56436226-56436226 C>T_TRCRLFIYYFVIFLENTALSALWYL
5:19503124-19503124 T>G	0.0	1913	MELANOMA	-	-	-	-	CDH18	ENST00000511273,p.N536T	protein_coding, processed_transcript	ENST00000511273	nonsynonymous SNV	exon10	c.A1607C	p.N536T	NFFLDERLPVNPNFTLKDNEGEHIY	NFFLDERLPVNPTFTLKDNEGEHIY	1.0	7.0	unscreened	-	1913_5:19503124-19503124 T>G_NFFLDERLPVNPTFTLKDNEGEHIY
1:48698104-48698104 G>A	1.0	1913	MELANOMA	-	-	-	-	SLC5A9	ENST00000425816,p.G253R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000425816	nonsynonymous SNV	exon7	c.G757A	p.G253R	ESVSCQGRLRAGGLPEDPPHVLHRH	ESVSCQGRLRAGRLPEDPPHVLHRH	4.0	9.0	unscreened	-	1913_1:48698104-48698104 G>A_ESVSCQGRLRAGRLPEDPPHVLHRH
20:52601857-52601857 G>A	1.0	1913	MELANOMA	-	-	-	-	BCAS1	ENST00000371440,p.S415F|ENST00000448484,p.S277F|uc002xwt.2,p.S370F	protein_coding	uc002xwt.2	nonsynonymous SNV	exon7	c.C1109T	p.S370F	AKEGTKEKSGPTSLPLGKLFWKKVV	AKEGTKEKSGPTFLPLGKLFWKKVV	3.0	9.0	unscreened	-	1913_20:52601857-52601857 G>A_AKEGTKEKSGPTFLPLGKLFWKKVV
5:19503124-19503124 T>G	0.0	1913	MELANOMA	-	-	-	-	CDH18	ENST00000502796,p.N536T|uc011cnm.2,p.N536T|NM_001167667,p.N536T	protein_coding, processed_transcript	uc011cnm.2	nonsynonymous SNV	exon11	c.A1607C	p.N536T	NFFLDERLPVNPNFTLKDNEAAAPS	NFFLDERLPVNPTFTLKDNEAAAPS	1.0	7.0	unscreened	-	1913_5:19503124-19503124 T>G_NFFLDERLPVNPTFTLKDNEAAAPS
5:140737006-140737006 C>T	1.0	1913	MELANOMA	-	-	-	-	PCDHGA4	NM_032053,p.R778W|ENST00000571252,p.R747W|uc003ljq.2,p.R747W|NM_018917,p.R778W|uc003ljp.1,p.R747W	protein_coding	uc003ljq.2	nonsynonymous SNV	exon1	c.C2239T	p.R747W	VPASHFVGVDGVRAFLQTYSHEVSL	VPASHFVGVDGVWAFLQTYSHEVSL	4.0	2.0	unscreened	-	1913_5:140737006-140737006 C>T_VPASHFVGVDGVWAFLQTYSHEVSL
12:3043713-3043713 G>T	1.0	1913	MELANOMA	-	-	-	-	TULP3	uc010seh.1,p.A304S|uc001qlj.2,p.A304S|uc009zec.1,p.A31S|ENST00000397132,p.A304S|NM_003324,p.A304S|ENST00000448120,p.A304S|ENST00000544943,p.A31S|NM_001160408,p.A304S	protein_coding, nonsense_mediated_decay	uc010seh.1	nonsynonymous SNV	exon8	c.G910T	p.A304S	GLVGAAHTRQELAAISYETNVLGFK	GLVGAAHTRQELSAISYETNVLGFK	9.0	8.0	unscreened	-	1913_12:3043713-3043713 G>T_GLVGAAHTRQELSAISYETNVLGFK
12:103234256-103234256 G>A	0.0	1913	MELANOMA	-	-	-	-	PAH	uc001tjq.1,p.R413C|ENST00000307000,p.R408C|NM_000277,p.R413C|ENST00000553106,p.R413C	retained_intron, protein_coding, processed_transcript	uc001tjq.1	nonsynonymous SNV	exon12	c.C1237T	p.R413C	NFAATIPRPFSVRYDPYTQRIEVLD	NFAATIPRPFSVCYDPYTQRIEVLD	1.0	1.0	unscreened	-	1913_12:103234256-103234256 G>A_NFAATIPRPFSVCYDPYTQRIEVLD
5:19503124-19503124 T>G	0.0	1913	MELANOMA	-	-	-	-	CDH18	NM_004934,p.N536T|uc003jgd.3,p.N536T|ENST00000507958,p.N536T|NM_001291956,p.N536T|uc003jgc.3,p.N536T|ENST00000274170,p.N536T|ENST00000382275,p.N536T	protein_coding, processed_transcript	uc003jgd.3	nonsynonymous SNV	exon11	c.A1607C	p.N536T	NFFLDERLPVNPNFTLKDNEDNTAS	NFFLDERLPVNPTFTLKDNEDNTAS	1.0	7.0	unscreened	-	1913_5:19503124-19503124 T>G_NFFLDERLPVNPTFTLKDNEDNTAS
X:48751434-48751434 G>A	1.0	1913	MELANOMA	-	-	-	-	TIMM17B	uc004dlc.2,p.P89S|ENST00000376582,p.P89S|NM_001167947,p.P139S|NM_005834,p.P89S|ENST00000396779,p.P139S|uc004dla.2,p.P139S	protein_coding, processed_transcript	uc004dlc.2	nonsynonymous SNV	exon5	c.C265T	p.P89S	DCGLVRLRGKEDPWNSITSGALTGA	DCGLVRLRGKEDSWNSITSGALTGA	8.0	9.0	unscreened	-	1913_X:48751434-48751434 G>A_DCGLVRLRGKEDSWNSITSGALTGA
7:143826686-143826686 C>T	0.0	1913	MELANOMA	-	-	-	-	OR2A14	ENST00000408899,p.L161F|uc011kua.2,p.L161F|NM_001001659,p.L161F	protein_coding	uc011kua.2	nonsynonymous SNV	exon1	c.C481T	p.L161F	VFSFLLALVPLVLILSLPFCGPHEI	VFSFLLALVPLVFILSLPFCGPHEI	1.0	3.0	unscreened	-	1913_7:143826686-143826686 C>T_VFSFLLALVPLVFILSLPFCGPHEI
9:96021334-96021334 C>T	0.0	1913	MELANOMA	-	-	-	2	WNK2	uc004ati.1,p.S835F|uc011lud.1,p.S835F|ENST00000427277,p.S447F|uc010mrc.1,p.S783F|uc004atj.3,p.S835F|ENST00000395477,p.S835F|ENST00000349097,p.S447F|ENST00000297954,p.S835F|NM_006648,p.S835F|uc004atk.3,p.S472F|NM_001282394,p.S835F	retained_intron, protein_coding, processed_transcript	uc011lud.1	nonsynonymous SNV	exon11	c.C2504T	p.S835F	ATVPPVPPPQYFSPAVILPSLAAPL	ATVPPVPPPQYFFPAVILPSLAAPL	3.0	3.0	unscreened	-	1913_9:96021334-96021334 C>T_ATVPPVPPPQYFFPAVILPSLAAPL
6:32784647-32784647 C>T	1.0	1913	MELANOMA	-	-	-	-	HLA-DOB	ENST00000488325,p.D28N	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000488325	nonsynonymous SNV	exon1	c.G82A	p.D28N	LTRLDSSMTQGTDSPVMWGCLWH	LTRLDSSMTQGTNSPVMWGCLWH	5.0	1.0	unscreened	-	1913_6:32784647-32784647 C>T_LTRLDSSMTQGTNSPVMWGCLWH
12:111786080-111786080 G>A	0.0	1913	MELANOMA	-	-	-	-	CUX2	uc001tsa.2,p.R1471Q|NM_015267,p.R1471Q|ENST00000261726,p.R1471Q	protein_coding, processed_transcript	uc001tsa.2	nonsynonymous SNV	exon22	c.G4412A	p.R1471Q	HEKMANLNNIIYRVERAANREEALE	HEKMANLNNIIYQVERAANREEALE	1.0	2.0	unscreened	-	1913_12:111786080-111786080 G>A_HEKMANLNNIIYQVERAANREEALE
9:119495767-119495767 G>A	0.0	1913	MELANOMA	-	-	-	-	ASTN2	ENST00000313400,p.A811V|ENST00000361209,p.A760V|ENST00000373986,p.A534V|ENST00000373996,p.A807V|uc022bml.1,p.A456V|uc004bjt.2,p.A760V|uc022bmm.1,p.A460V|NM_014010,p.A760V	protein_coding	uc022bmm.1	nonsynonymous SNV	exon12	c.C1379T	p.A460V	RENNFIKDFPQLADGLLVIPLPVEE	RENNFIKDFPQLVDGLLVIPLPVEE	5.0	6.0	unscreened	-	1913_9:119495767-119495767 G>A_RENNFIKDFPQLVDGLLVIPLPVEE
7:23309785-23309785 C>T	1.0	1913	MELANOMA	-	-	-	-	GPNMB	ENST00000453162,p.P428S|NM_002510,p.P474S|NM_001005340,p.P486S|ENST00000539136,p.P375S|uc003swb.3,p.P474S|ENST00000258733,p.P474S|ENST00000381990,p.P486S|uc011jyy.2,p.P428S|uc011jyz.2,p.P375S|uc003swc.3,p.P486S	retained_intron, protein_coding, processed_transcript	uc011jyz.2	nonsynonymous SNV	exon7	c.C1123T	p.P375S	TSLALTSTLISVPDRDPASPLRMAN	TSLALTSTLISVSDRDPASPLRMAN	9.0	4.0	unscreened	-	1913_7:23309785-23309785 C>T_TSLALTSTLISVSDRDPASPLRMAN
16:28925738-28925738 G>A	1.0	1913	MELANOMA	-	-	-	-	RABEP2	ENST00000544477,p.S167F|NM_024816,p.S238F|uc002drq.3,p.S238F|uc010byn.3,p.S238F|uc002drr.3,p.S238F|ENST00000358201,p.S238F|ENST00000567483,p.S228F|ENST00000568703,p.S185F|ENST00000357573,p.S238F|uc010vdf.2,p.S167F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vdf.2	nonsynonymous SNV	exon4	c.C500T	p.S167F	HNCDDSASISSFSLGGGVGSSSSLP	HNCDDSASISSFFLGGGVGSSSSLP	6.0	8.0	unscreened	-	1913_16:28925738-28925738 G>A_HNCDDSASISSFFLGGGVGSSSSLP
12:96641012-96641012 G>A	1.0	1913	MELANOMA	-	-	-	-	ELK3	uc001teo.1,p.E168K|ENST00000228741,p.E168K|NM_005230,p.E168K	protein_coding, processed_transcript, nonsense_mediated_decay	uc001teo.1	nonsynonymous SNV	exon3	c.G502A	p.E168K	DAFKAIKTEKLEEPPEDSPPVEEVR	DAFKAIKTEKLEKPPEDSPPVEEVR	8.0	9.0	unscreened	-	1913_12:96641012-96641012 G>A_DAFKAIKTEKLEKPPEDSPPVEEVR
1:228553171-228553171 G>T	0.0	1913	MELANOMA	-	-	-	-	OBSCN	ENST00000422127,p.G6325W|NM_001271223,p.G7282W|ENST00000366707,p.G3959W|NM_001098623,p.G6325W|uc001hsq.2,p.G7282W|ENST00000570156,p.G7282W|uc009xez.2,p.G6325W|uc001hsr.1,p.G954W	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon82	c.G18973T	p.G6325W	RMEGAAWPGAGTGELLWDVHSHVVR	RMEGAAWPGAGTWELLWDVHSHVVR	4.0	2.0	unscreened	-	1913_1:228553171-228553171 G>T_RMEGAAWPGAGTWELLWDVHSHVVR
1:158450130-158450130 C>T	0.0	1913	MELANOMA	-	-	-	-	OR10R2	NM_001004472,p.L155F|uc010pik.2,p.L155F|ENST00000368152,p.L155F	protein_coding	uc010pik.2	nonsynonymous SNV	exon1	c.C463T	p.L155F	YAAICHPLHYPTLMSWQVCGKLAAA	YAAICHPLHYPTFMSWQVCGKLAAA	1.0	2.0	unscreened	-	1913_1:158450130-158450130 C>T_YAAICHPLHYPTFMSWQVCGKLAAA
18:61569770-61569770 G>A	0.0	1913	MELANOMA	-	-	-	-	SERPINB2	ENST00000299502,p.E271K|uc010xeu.2,p.E271K|NM_002575,p.E271K|uc002ljo.3,p.E271K|uc002ljq.1,p.E76K|ENST00000457692,p.E271K|NM_001143818,p.E271K|uc002ljp.1,p.E76K	protein_coding, processed_transcript	uc010xeu.2	nonsynonymous SNV	exon8	c.G811A	p.E271K	AGDVSMFLLLPDEIADVSTGLELLE	AGDVSMFLLLPDKIADVSTGLELLE	1.0	9.0	unscreened	-	1913_18:61569770-61569770 G>A_AGDVSMFLLLPDKIADVSTGLELLE
5:41382330-41382330 T>C	0.0	1913	MELANOMA	-	-	-	-	PLCXD3	uc003jmm.1,p.K137R|NM_001005473,p.K137R|ENST00000377801,p.K137R|ENST00000328457,p.K137R	protein_coding	uc003jmm.1	nonsynonymous SNV	exon2	c.A410G	p.K137R	LEEINAFLTDHHKEVVFLDFNHFYG	LEEINAFLTDHHREVVFLDFNHFYG	1.0	3.0	unscreened	-	1913_5:41382330-41382330 T>C_LEEINAFLTDHHREVVFLDFNHFYG
14:20216212-20216212 T>G	0.0	1913	MELANOMA	-	-	-	-	OR4Q3	NM_172194,p.L209R|uc010tkt.2,p.L209R|ENST00000331723,p.L209R	protein_coding	uc010tkt.2	nonsynonymous SNV	exon1	c.T626G	p.L209R	EVLVIANSGLLSLVCFLVLLFSYAI	EVLVIANSGLLSRVCFLVLLFSYAI	1.0	5.0	unscreened	-	1913_14:20216212-20216212 T>G_EVLVIANSGLLSRVCFLVLLFSYAI
3:13379366-13379366 G>A	1.0	1913	MELANOMA	-	-	-	-	NUP210	ENST00000254508,p.P1175S|uc003bxv.1,p.P1175S|NM_024923,p.P1175S	retained_intron, protein_coding, processed_transcript	uc003bxv.1	nonsynonymous SNV	exon26	c.C3523T	p.P1175S	EVLLLRAVRIRAPIMRMRTGTQMPI	EVLLLRAVRIRASIMRMRTGTQMPI	5.0	2.0	unscreened	-	1913_3:13379366-13379366 G>A_EVLLLRAVRIRASIMRMRTGTQMPI
12:97057618-97057618 G>A	0.0	1913	MELANOMA	-	-	ID=COSM168953;OCCURENCE=1(endometrium),1(large_intestine)	-	CDK17,NEDD1	uc021rcc.1,p.R249Q|ENST00000524981,p.R275Q	-	uc021rcc.1	nonsynonymous SNV	exon6	c.G746A	p.R249Q	RYEAEYGEKITCRNFIGKQLKINSS	RYEAEYGEKITCQNFIGKQLKINSS	1.0	8.0	unscreened	-	1913_12:97057618-97057618 G>A_RYEAEYGEKITCQNFIGKQLKINSS
11:56756731-56756731 C>A	0.0	1913	MELANOMA	-	-	-	-	OR5AK2	uc010rjp.2,p.L115M|NM_001005323,p.L115M|ENST00000326855,p.L115M	protein_coding	uc010rjp.2	nonsynonymous SNV	exon1	c.C343A	p.L115M	VYATFATSDCYLLAMMAVDPYVAIC	VYATFATSDCYLMAMMAVDPYVAIC	1.0	9.0	unscreened	-	1913_11:56756731-56756731 C>A_VYATFATSDCYLMAMMAVDPYVAIC
17:71232253-71232253 C>T	1.0	1913	MELANOMA	-	-	-	-	C17orf80	NM_001288770,p.P211L|uc010dfj.3,p.P211L|NM_001288771,p.P211L|uc002jjk.1,p.P211L|uc002jjl.4,p.P211L|ENST00000268942,p.P211L|uc010wqu.1,p.P211L|ENST00000359042,p.P211L|NM_001100622,p.P211L|ENST00000535032,p.P211L|NM_017941,p.P211L|ENST00000255557,p.P211L|ENST00000426147,p.P211L|uc002jjm.4,p.P211L|ENST00000577615,p.P211L|NM_001100621,p.P211L	protein_coding	uc010wqu.1	nonsynonymous SNV	exon3	c.C632T	p.P211L	TTSGDLKLDKIDPQRQELLVKLLDV	TTSGDLKLDKIDLQRQELLVKLLDV	8.0	5.0	unscreened	-	1913_17:71232253-71232253 C>T_TTSGDLKLDKIDLQRQELLVKLLDV
9:82242320-82242320 G>T	1.0	1913	MELANOMA	-	-	-	-	TLE4	ENST00000376520,p.R116L|NM_001282753,p.R116L|ENST00000376537,p.R116L|uc010mps.3,p.R109L|ENST00000435650,p.R116L|uc004ald.3,p.R109L|NM_001282748,p.R116L|ENST00000428713,p.R101L|uc004alc.3,p.R116L|ENST00000425506,p.R114L|ENST00000376544,p.R116L|NM_007005,p.R116L|ENST00000462803,p.R116L|ENST00000376552,p.R116L|uc004alf.3,p.R54L|ENST00000414465,p.R101L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010mps.3	nonsynonymous SNV	exon6	c.G326T	p.R109L	QEHQQQVVQAVERAKQVTMAELNAI	QEHQQQVVQAVELAKQVTMAELNAI	5.0	5.0	unscreened	-	1913_9:82242320-82242320 G>T_QEHQQQVVQAVELAKQVTMAELNAI
14:20248603-20248603 G>A	0.0	1913	MELANOMA	-	-	-	-	OR4M1	uc010tku.2,p.G41E|NM_001005500,p.G41E|ENST00000315957,p.G41E	protein_coding	uc010tku.2	nonsynonymous SNV	exon1	c.G122A	p.G41E	VIFLSFYLFILPGNILIICTIRLDP	VIFLSFYLFILPENILIICTIRLDP	1.0	1.0	unscreened	-	1913_14:20248603-20248603 G>A_VIFLSFYLFILPENILIICTIRLDP
17:37566915-37566915 G>A	1.0	1913	MELANOMA	-	-	-	-	MED1	uc002hrv.4,p.A520V|NM_004774,p.A520V|uc002hru.2,p.A520V|uc010wee.2,p.A348V|ENST00000394287,p.A520V|ENST00000300651,p.A520V	retained_intron, protein_coding, nonsense_mediated_decay	uc010wee.2	nonsynonymous SNV	exon16	c.C1043T	p.A348V	MRAIRRKAETIQADTPALSLIAETV	MRAIRRKAETIQVDTPALSLIAETV	8.0	5.0	unscreened	-	1913_17:37566915-37566915 G>A_MRAIRRKAETIQVDTPALSLIAETV
5:19503124-19503124 T>G	0.0	1913	MELANOMA	-	-	-	-	CDH18	ENST00000506372,p.N536T|NM_001291957,p.N536T|uc021xwu.1,p.N536T	protein_coding, processed_transcript	uc021xwu.1	nonsynonymous SNV	exon11	c.A1607C	p.N536T	NFFLDERLPVNPNFTLKDNEAAAAP	NFFLDERLPVNPTFTLKDNEAAAAP	1.0	7.0	unscreened	-	1913_5:19503124-19503124 T>G_NFFLDERLPVNPTFTLKDNEAAAAP
11:5530322-5530322 G>A	0.0	1913	MELANOMA	-	-	-	-	UBQLN3	ENST00000311659,p.S156F|uc001may.1,p.S156F|ENST00000445998,p.S156F|uc021qcw.1,p.S156F|NM_017481,p.S156F	protein_coding	uc021qcw.1	nonsynonymous SNV	exon1	c.C467T	p.S156F	GLAYRGFPDQPSSLMRQHVSVPEFV	GLAYRGFPDQPSFLMRQHVSVPEFV	1.0	9.0	unscreened	-	1913_11:5530322-5530322 G>A_GLAYRGFPDQPSFLMRQHVSVPEFV
12:104122669-104122669 C>T	0.0	1913	MELANOMA	-	-	-	-	STAB2	uc001tjw.3,p.R1660W|NM_017564,p.R1660W|ENST00000388887,p.R1660W	retained_intron, protein_coding, nonsense_mediated_decay	uc001tjw.3	nonsynonymous SNV	exon48	c.C4978T	p.R1660W	DWDKYGLMPQVLRYHVVACHQLLLE	DWDKYGLMPQVLWYHVVACHQLLLE	2.0	3.0	unscreened	-	1913_12:104122669-104122669 C>T_DWDKYGLMPQVLWYHVVACHQLLLE
22:24580242-24580242 C>T	0.0	1913	MELANOMA	-	-	-	-	SUSD2	ENST00000358321,p.T193I|NM_019601,p.T193I|uc002zzn.1,p.T193I	retained_intron, protein_coding	uc002zzn.1	nonsynonymous SNV	exon4	c.C578T	p.T193I	TWHVKSLPTQTITIELWGYEETGMP	TWHVKSLPTQTIIIELWGYEETGMP	2.0	5.0	unscreened	-	1913_22:24580242-24580242 C>T_TWHVKSLPTQTIIIELWGYEETGMP
3:151130934-151130934 C>T	1.0	1913	MELANOMA	-	-	-	-	MED12L	ENST00000474524,p.H2015Y|NM_053002,p.H2015Y|uc003eyp.3,p.H2015Y	protein_coding, processed_transcript	uc003eyp.3	nonsynonymous SNV	exon40	c.C6043T	p.H2015Y	YLQPLTGSQRLNHQALQQSPLVGGG	YLQPLTGSQRLNYQALQQSPLVGGG	4.0	3.0	unscreened	-	1913_3:151130934-151130934 C>T_YLQPLTGSQRLNYQALQQSPLVGGG
3:156139412-156139412 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1693668,COSM1693670,COSM1693669;OCCURENCE=1(skin)	-	KCNAB1	NM_172160,p.G95R|ENST00000490337,p.G95R|uc011bon.1,p.G95R|ENST00000389636,p.G95R|uc003far.2,p.G95R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bon.1	nonsynonymous SNV	exon2	c.G283A	p.G95R	TVCTTGMPHRNLGKSGLRVSCLGLG	TVCTTGMPHRNLRKSGLRVSCLGLG	8.0	7.0	unscreened	-	1913_3:156139412-156139412 G>A_TVCTTGMPHRNLRKSGLRVSCLGLG
1:228465478-228465478 C>T	1.0	1913	MELANOMA	-	-	-	-	OBSCN	ENST00000359599,p.R1107W|NM_001098623,p.R2260W|uc009xez.2,p.R2260W|ENST00000422127,p.R2260W|NM_052843,p.R2260W|uc001hsn.4,p.R2260W|ENST00000284548,p.R2260W	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon25	c.C6778T	p.R2260W	VKVQGRTYTLIYRRVLAEDAGEIQF	VKVQGRTYTLIYWRVLAEDAGEIQF	4.0	6.0	unscreened	-	1913_1:228465478-228465478 C>T_VKVQGRTYTLIYWRVLAEDAGEIQF
1:228465478-228465478 C>T	1.0	1913	MELANOMA	-	-	-	-	OBSCN	NM_001271223,p.R2689W|uc001hsq.2,p.R2689W|ENST00000570156,p.R2689W|uc001hsp.2,p.R48W|ENST00000366706,p.R108W	retained_intron, protein_coding, processed_transcript	uc001hsq.2	nonsynonymous SNV	exon30	c.C8065T	p.R2689W	IRQEGRTYTLIYRRVLAEDAGEIQF	IRQEGRTYTLIYWRVLAEDAGEIQF	4.0	6.0	unscreened	-	1913_1:228465478-228465478 C>T_IRQEGRTYTLIYWRVLAEDAGEIQF
3:7620525-7620525 C>A	0.0	1913	MELANOMA	-	-	-	-	GRM7	ENST00000403881,p.F644L|ENST00000402647,p.F644L|NM_000844,p.F644L|ENST00000389336,p.F644L|uc003bqn.1,p.F227L|ENST00000389335,p.F644L|uc003bql.2,p.F644L|uc003bqm.2,p.F644L|uc010hcg.2,p.F644L|ENST00000486284,p.F644L|ENST00000357716,p.F644L|uc010hch.1,p.F155L|ENST00000467425,p.F644L|NM_181874,p.F644L|ENST00000440923,p.F644L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hch.1	nonsynonymous SNV	exon6	c.C465A	p.F155L	LLTGIFLCYIITFLMIAKPDVAVCS	LLTGIFLCYIITLLMIAKPDVAVCS	1.0	8.0	unscreened	-	1913_3:7620525-7620525 C>A_LLTGIFLCYIITLLMIAKPDVAVCS
20:30816187-30816187 G>A	1.0	1913	MELANOMA	-	-	-	-	POFUT1	NM_015352,p.G222R|ENST00000375749,p.G222R|uc010ztt.2,p.G114R|uc002wxp.3,p.G222R	protein_coding, processed_transcript	uc010ztt.2	nonsynonymous SNV	exon4	c.G340A	p.G114R	KYMVWSDEMVKTGEAQIHAHLVRPY	KYMVWSDEMVKTREAQIHAHLVRPY	9.0	7.0	unscreened	-	1913_20:30816187-30816187 G>A_KYMVWSDEMVKTREAQIHAHLVRPY
19:32847537-32847537 C>T	1.0	1913	MELANOMA	-	-	-	-	ZNF507	uc002ntc.2,p.H715Y|ENST00000355898,p.H715Y|uc002nte.3,p.H715Y|NM_014910,p.H715Y|uc010xrn.1,p.H715Y|NM_001136156,p.H715Y|ENST00000544431,p.H715Y|uc002ntd.3,p.H715Y|ENST00000311921,p.H715Y	protein_coding, processed_transcript, lincRNA	uc010xrn.1	nonsynonymous SNV	exon4	c.C2143T	p.H715Y	EESFHYKSQLRNHEREQHSLPDTLS	EESFHYKSQLRNYEREQHSLPDTLS	6.0	3.0	unscreened	-	1913_19:32847537-32847537 C>T_EESFHYKSQLRNYEREQHSLPDTLS
19:48877011-48877011 G>A	0.0	1913	MELANOMA	-	-	-	-	SYNGR4	uc002piz.3,p.V111I|ENST00000600863,p.V62I|ENST00000601610,p.V62I|ENST00000344846,p.V111I|NM_012451,p.V111I	protein_coding	uc002piz.3	nonsynonymous SNV	exon3	c.G331A	p.V111I	KTAFQLLDFILAVLWAVVWFMGFCF	KTAFQLLDFILAILWAVVWFMGFCF	3.0	4.0	unscreened	-	1913_19:48877011-48877011 G>A_KTAFQLLDFILAILWAVVWFMGFCF
8:30704162-30704162 G>A	0.0	1913	MELANOMA	-	-	-	-	TEX15	ENST00000256246,p.S791F|NM_031271,p.S791F|uc003xil.3,p.S791F	protein_coding, processed_transcript	uc003xil.3	nonsynonymous SNV	exon1	c.C2372T	p.S791F	NIFRPGFSPTADSLALKDSFCTHVT	NIFRPGFSPTADFLALKDSFCTHVT	1.0	4.0	unscreened	-	1913_8:30704162-30704162 G>A_NIFRPGFSPTADFLALKDSFCTHVT
5:3600231-3600231 C>T	0.0	1913	MELANOMA	-	-	-	-	IRX1	ENST00000302006,p.S390F|uc003jde.3,p.S390F|NM_024337,p.S390F	protein_coding	uc003jde.3	nonsynonymous SNV	exon2	c.C1169T	p.S390F	AFLAQGSLLNMRSFLGVGAPHAAPH	AFLAQGSLLNMRFFLGVGAPHAAPH	1.0	8.0	unscreened	-	1913_5:3600231-3600231 C>T_AFLAQGSLLNMRFFLGVGAPHAAPH
4:69816870-69816870 C>T	0.0	1913	MELANOMA	-	-	-	-	UGT2A3	ENST00000503012,p.M69I|uc003hef.2,p.M203I|NM_024743,p.M203I|ENST00000251566,p.M203I	protein_coding, nonsense_mediated_decay	uc003hef.2	nonsynonymous SNV	exon1	c.G609A	p.M203I	YVPVPMTGLTDRMTFLERVKNSMLS	YVPVPMTGLTDRITFLERVKNSMLS	1.0	9.0	unscreened	-	1913_4:69816870-69816870 C>T_YVPVPMTGLTDRITFLERVKNSMLS
19:48869191-48869191 G>A	0.0	1913	MELANOMA	-	-	-	-	SYNGR4	NM_012451,p.G31E|ENST00000344846,p.G31E|uc002piz.3,p.G31E	protein_coding	uc002piz.3	nonsynonymous SNV	exon2	c.G92A	p.G31E	LRRPKTITRVFEGVFSLIVFSSLLT	LRRPKTITRVFEEVFSLIVFSSLLT	3.0	4.0	unscreened	-	1913_19:48869191-48869191 G>A_LRRPKTITRVFEEVFSLIVFSSLLT
X:70347769-70347769 C>T	1.0	1913	MELANOMA	-	-	-	1	MED12	ENST00000333646,p.T1003I|ENST00000430072,p.T971I|ENST00000374102,p.T1003I|ENST00000374080,p.T1003I|uc004dyy.3,p.T1003I|uc004dza.3,p.T850I|uc011mpq.1,p.T1003I|NM_005120,p.T1003I|uc004dyz.3,p.T1003I	protein_coding, processed_transcript	uc011mpq.1	nonsynonymous SNV	exon22	c.C3008T	p.T1003I	ELFSDFCSKVKNTIYCNVEPSESNM	ELFSDFCSKVKNIIYCNVEPSESNM	8.0	9.0	unscreened	-	1913_X:70347769-70347769 C>T_ELFSDFCSKVKNIIYCNVEPSESNM
22:39262690-39262690 G>A	1.0	1913	MELANOMA	-	-	-	-	CBX6	ENST00000216083,p.P237S|uc003awl.3,p.P255S|NM_014292,p.P255S|ENST00000407418,p.P255S	retained_intron, protein_coding	uc003awl.3	nonsynonymous SNV	exon5	c.C763T	p.P255S	VAPSPGKAEASAPGPGLLLAAPAAP	VAPSPGKAEASASGPGLLLAAPAAP	9.0	6.0	unscreened	-	1913_22:39262690-39262690 G>A_VAPSPGKAEASASGPGLLLAAPAAP
5:63894254-63894254 A>T	0.0	1913	MELANOMA	-	-	-	-	RGS7BP	uc031sjk.1,p.K92I	retained_intron, protein_coding, processed_transcript	uc031sjk.1	nonsynonymous SNV	exon3	c.A275T	p.K92I	LSKLRETMPLPLKNQVKTRLHNGLL	LSKLRETMPLPLINQVKTRLHNGLL	1.0	2.0	unscreened	-	1913_5:63894254-63894254 A>T_LSKLRETMPLPLINQVKTRLHNGLL
11:56058181-56058181 C>T	0.0	1913	MELANOMA	-	-	-	-	OR8H1	uc010rje.2,p.D120N|NM_001005199,p.D120N|ENST00000313022,p.D120N	protein_coding	uc010rje.2	nonsynonymous SNV	exon1	c.G358A	p.D120N	AAECFLLSSMAYDRYVAICSPLRYP	AAECFLLSSMAYNRYVAICSPLRYP	1.0	9.0	unscreened	-	1913_11:56058181-56058181 C>T_AAECFLLSSMAYNRYVAICSPLRYP
11:55406327-55406327 C>T	0.0	1913	MELANOMA	-	-	-	-	OR4P4	uc010rij.2,p.P165L|NM_001004124,p.P165L|ENST00000314612,p.P165L	protein_coding	uc010rij.2	nonsynonymous SNV	exon1	c.C494T	p.P165L	HSASQFLLTIFVPFCGPNEIDHYFC	HSASQFLLTIFVLFCGPNEIDHYFC	1.0	9.0	unscreened	-	1913_11:55406327-55406327 C>T_HSASQFLLTIFVLFCGPNEIDHYFC
3:134670723-134670723 G>A	0.0	1913	MELANOMA	-	-	-	-	EPHB1	ENST00000398015,p.G212R|uc003eqt.3,p.G212R|NM_004441,p.G212R|ENST00000482618,p.G212R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003eqt.3	nonsynonymous SNV	exon3	c.G634A	p.G212R	VQNFAVFPETMTGAESTSLVIARGT	VQNFAVFPETMTRAESTSLVIARGT	3.0	7.0	unscreened	-	1913_3:134670723-134670723 G>A_VQNFAVFPETMTRAESTSLVIARGT
12:50040789-50040789 G>A	1.0	1913	MELANOMA	-	-	-	-	FMNL3	ENST00000352151,p.P908S|ENST00000293590,p.P959S|ENST00000550488,p.P958S|NM_175736,p.P959S|NM_198900,p.P908S|ENST00000335154,p.P959S|uc001ruv.1,p.P959S|uc001ruw.1,p.P908S|uc001rut.1,p.P525S|uc001ruu.1,p.P809S	retained_intron, protein_coding, processed_transcript	uc001ruw.1	nonsynonymous SNV	exon24	c.C2722T	p.P908S	LAQEAKKLDAKTPSQRNKWQQQELI	LAQEAKKLDAKTSSQRNKWQQQELI	9.0	1.0	unscreened	-	1913_12:50040789-50040789 G>A_LAQEAKKLDAKTSSQRNKWQQQELI
12:117964917-117964917 C>T	0.0	1913	MELANOMA	-	-	-	-	KSR2	uc001two.2,p.G575R|NM_173598,p.G575R|ENST00000302438,p.G301R|ENST00000339824,p.G604R|ENST00000425217,p.G575R	retained_intron, protein_coding, processed_transcript	uc001two.2	nonsynonymous SNV	exon13	c.G1723A	p.G575R	ILHPVTSNPILEGNPLLQIEVEPTS	ILHPVTSNPILERNPLLQIEVEPTS	1.0	9.0	unscreened	-	1913_12:117964917-117964917 C>T_ILHPVTSNPILERNPLLQIEVEPTS
2:160755426-160755426 G>A	0.0	1913	MELANOMA	-	-	-	-	LY75,LY75-CD302	ENST00000263636,p.S80F|NM_001198760,p.S80F|NM_002349,p.S80F|uc010fot.2,p.S80F|NM_001198759,p.S80F|ENST00000504764,p.S80F|ENST00000553424,p.S80F|uc002ubb.4,p.S80F|uc002ubc.4,p.S80F|ENST00000505052,p.S80F|ENST00000554112,p.S80F|uc010fos.3,p.S80F	 protein_coding,protein_coding, processed_transcript,retained_intron	uc010fot.2	nonsynonymous SNV	exon2	c.C239T	p.S80F	KWVSQHRLFHLHSQKCLGLDITKSV	KWVSQHRLFHLHFQKCLGLDITKSV	1.0	5.0	unscreened	-	1913_2:160755426-160755426 G>A_KWVSQHRLFHLHFQKCLGLDITKSV
19:10092778-10092778 G>A	1.0	1913	MELANOMA	-	-	-	-	COL5A3	uc002mmq.1,p.P808L|ENST00000264828,p.P808L|NM_015719,p.P808L	retained_intron, protein_coding	uc002mmq.1	nonsynonymous SNV	exon32	c.C2423T	p.P808L	PGRPGPKGSIGFPGPLGPIGEKGKS	PGRPGPKGSIGFLGPLGPIGEKGKS	7.0	1.0	unscreened	-	1913_19:10092778-10092778 G>A_PGRPGPKGSIGFLGPLGPIGEKGKS
9:112778263-112778263 G>A	1.0	1913	MELANOMA	-	-	-	-	PALM2-AKAP2	ENST00000302798,p.E176K|uc004bek.4,p.E176K|uc004bej.4,p.E176K|ENST00000510514,p.E176K|ENST00000374530,p.E176K|NM_147150,p.E176K|ENST00000555236,p.E176K|NM_007203,p.E176K	protein_coding, processed_transcript, nonsense_mediated_decay	uc004bek.4	nonsynonymous SNV	exon7	c.G526A	p.E176K	AAGVGWENVLLKEGESASNATETSG	AAGVGWENVLLKKGESASNATETSG	7.0	9.0	unscreened	-	1913_9:112778263-112778263 G>A_AAGVGWENVLLKKGESASNATETSG
2:135711284-135711284 A>T	1.0	1913	MELANOMA	-	-	-	-	CCNT2	ENST00000537343,p.H245L|NM_001241,p.H420L|ENST00000295238,p.H420L|ENST00000264157,p.H420L|uc002tud.2,p.H83L|NM_058241,p.H420L|uc002tub.2,p.H420L|uc010zbf.2,p.H245L|uc002tuc.2,p.H420L	retained_intron, protein_coding, nonsense_mediated_decay	uc010zbf.2	nonsynonymous SNV	exon10	c.A734T	p.H245L	QEYTHKAGSSKHHGPISTTPGIIPQ	QEYTHKAGSSKHLGPISTTPGIIPQ	8.0	4.0	unscreened	-	1913_2:135711284-135711284 A>T_QEYTHKAGSSKHLGPISTTPGIIPQ
15:28231749-28231749 T>C	0.0	1913	MELANOMA	-	-	-	-	OCA2	NM_000275,p.D408G|ENST00000353809,p.D384G|ENST00000354638,p.D408G|uc010ayv.3,p.D384G|uc001zbh.4,p.D408G|NM_001300984,p.D384G|ENST00000382996,p.D408G	protein_coding, processed_transcript	uc010ayv.3	nonsynonymous SNV	exon11	c.A1151G	p.D384G	ILVAIFSETGFFDYCAVKAYRLSRG	ILVAIFSETGFFGYCAVKAYRLSRG	5.0	1.0	unscreened	-	1913_15:28231749-28231749 T>C_ILVAIFSETGFFGYCAVKAYRLSRG
1:15894566-15894566 C>T	1.0	1913	MELANOMA	-	-	-	-	DNAJC16	uc001awt.3,p.S436F|uc001aws.3,p.S748F|NM_015291,p.S748F|NM_001287811,p.S436F|ENST00000375847,p.S748F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001awt.3	nonsynonymous SNV	exon14	c.C1307T	p.S436F	GESRGKPSCGLGSRPIKGKLSKLSL	GESRGKPSCGLGFRPIKGKLSKLSL	7.0	1.0	unscreened	-	1913_1:15894566-15894566 C>T_GESRGKPSCGLGFRPIKGKLSKLSL
5:140208173-140208173 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1696270,COSM1696271;OCCURENCE=1(skin)	-	PCDHA6	uc003lho.2,p.S166F|NM_018909,p.S166F|uc003lhn.2,p.S166F|ENST00000529310,p.S166F|ENST00000527624,p.S166F|NM_031849,p.S166F|NM_031848,p.S166F|uc011dab.2,p.S166F	protein_coding	uc011dab.2	nonsynonymous SNV	exon1	c.C497T	p.S166F	LEGASDADVGSNSILTYKLSSSEYF	LEGASDADVGSNFILTYKLSSSEYF	1.0	8.0	unscreened	-	1913_5:140208173-140208173 C>T_LEGASDADVGSNFILTYKLSSSEYF
1:227216844-227216844 G>A	1.0	1913	MELANOMA	-	-	-	-	CDC42BPA	ENST00000366765,p.P1294S|ENST00000366766,p.P1316S|uc001hqp.3,p.P437S|ENST00000535525,p.P1261S|ENST00000366764,p.P1253S|uc001hqr.3,p.P1281S|ENST00000366767,p.P1200S|uc010pvs.2,p.P1261S|ENST00000366769,p.P1281S|uc009xes.3,p.P1253S|NM_003607,p.P1281S|ENST00000334218,p.P1281S|uc001hqs.3,p.P1200S|NM_014826,p.P1200S|uc001hqt.2,p.P159S|uc001hqu.1,p.P488S|uc001hqq.3,p.P580S	protein_coding, processed_transcript	uc010pvs.2	nonsynonymous SNV	exon29	c.C3781T	p.P1261S	VISGRNRHVRLFPMSALDGRETDFY	VISGRNRHVRLFSMSALDGRETDFY	7.0	7.0	unscreened	-	1913_1:227216844-227216844 G>A_VISGRNRHVRLFSMSALDGRETDFY
10:79781371-79781371 G>A	1.0	1913	MELANOMA	-	-	-	-	POLR3A	ENST00000372371,p.P373L|NM_007055,p.P373L|uc001jzn.3,p.P373L	protein_coding, processed_transcript	uc001jzn.3	nonsynonymous SNV	exon8	c.C1118T	p.P373L	VDFSGRTVISPDPNLRIDEVAVPVH	VDFSGRTVISPDLNLRIDEVAVPVH	6.0	6.0	unscreened	-	1913_10:79781371-79781371 G>A_VDFSGRTVISPDLNLRIDEVAVPVH
1:34554710-34554710 T>C	0.0	1913	MELANOMA	-	-	-	-	CSMD2	ENST00000373381,p.N91S|NM_052896,p.N51S|ENST00000241312,p.N51S|uc001bxm.1,p.N91S|uc001bxn.1,p.N51S|NM_001281956,p.N91S	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxn.1	nonsynonymous SNV	exon2	c.A152G	p.N51S	SPGFPYGYPNYANCTWTITAEEQHR	SPGFPYGYPNYASCTWTITAEEQHR	1.0	2.0	unscreened	-	1913_1:34554710-34554710 T>C_SPGFPYGYPNYASCTWTITAEEQHR
15:54003089-54003089 G>A	0.0	1913	MELANOMA	-	-	-	-	WDR72	ENST00000557913,p.H306Y|ENST00000559418,p.H319Y	protein_coding, processed_transcript	ENST00000559418	nonsynonymous SNV	exon8	c.C955T	p.H319Y	ADGRVLKETIYPHLLCSTSVQENKS	ADGRVLKETIYPYLLCSTSVQENKS	5.0	9.0	unscreened	-	1913_15:54003089-54003089 G>A_ADGRVLKETIYPYLLCSTSVQENKS
19:52090977-52090977 C>T	1.0	1913	MELANOMA	-	-	-	-	ZNF175	uc002pxb.3,p.H465Y|ENST00000262259,p.H465Y|NM_007147,p.H465Y	protein_coding	uc002pxb.3	nonsynonymous SNV	exon5	c.C1393T	p.H465Y	GQAFIQKAHLIVHQRSHTGEKPYQC	GQAFIQKAHLIVYQRSHTGEKPYQC	4.0	3.0	unscreened	-	1913_19:52090977-52090977 C>T_GQAFIQKAHLIVYQRSHTGEKPYQC
3:156139412-156139412 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1693668,COSM1693670,COSM1693669;OCCURENCE=1(skin)	-	KCNAB1	NM_003471,p.G84R|ENST00000471742,p.G84R|uc003fas.2,p.G84R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003fas.2	nonsynonymous SNV	exon2	c.G250A	p.G84R	TRAETGMAYRNLGKSGLRVSCLGLG	TRAETGMAYRNLRKSGLRVSCLGLG	8.0	7.0	unscreened	-	1913_3:156139412-156139412 G>A_TRAETGMAYRNLRKSGLRVSCLGLG
12:72023470-72023470 A>G	1.0	1913	MELANOMA	-	-	-	-	ZFC3H1	uc001swo.2,p.F1249L|ENST00000378743,p.F1249L|ENST00000552994,p.F1249L|NM_144982,p.F1249L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001swo.2	nonsynonymous SNV	exon19	c.T3745C	p.F1249L	ITASAEKYVEKLFGVNKDRMSMDQM	ITASAEKYVEKLLGVNKDRMSMDQM	8.0	3.0	unscreened	-	1913_12:72023470-72023470 A>G_ITASAEKYVEKLLGVNKDRMSMDQM
15:54003089-54003089 G>A	0.0	1913	MELANOMA	-	-	-	-	WDR72	uc002acj.2,p.H307Y|NM_182758,p.H307Y|ENST00000396328,p.H307Y|uc010bfi.1,p.H307Y|ENST00000360509,p.H307Y|ENST00000560036,p.H307Y|uc031qse.1,p.H307Y	protein_coding, processed_transcript	uc031qse.1	nonsynonymous SNV	exon9	c.C919T	p.H307Y	ADGRVLKETIYPHLLCSTSVQENKE	ADGRVLKETIYPYLLCSTSVQENKE	5.0	9.0	unscreened	-	1913_15:54003089-54003089 G>A_ADGRVLKETIYPYLLCSTSVQENKE
X:43662630-43662630 C>T	0.0	1913	MELANOMA	-	-	-	-	MAOB	ENST00000536181,p.G85R|ENST00000538942,p.G85R|ENST00000378069,p.G101R|uc011mkx.2,p.G85R|uc011mky.2,p.G85R|uc004dfz.4,p.G101R|NM_000898,p.G101R	protein_coding, processed_transcript, nonsense_mediated_decay	uc011mky.2	nonsynonymous SNV	exon5	c.G253A	p.G85R	IHHVKGKSYPFRGPFPPVWNPITYL	IHHVKGKSYPFRRPFPPVWNPITYL	1.0	9.0	unscreened	-	1913_X:43662630-43662630 C>T_IHHVKGKSYPFRRPFPPVWNPITYL
2:128262269-128262269 C>T	1.0	1913	MELANOMA	-	-	-	-	IWS1	NM_017969,p.E404K|uc002ton.2,p.E404K|ENST00000455721,p.E411K|ENST00000295321,p.E404K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ton.2	nonsynonymous SNV	exon3	c.G1210A	p.E404K	RKAAVLSDSEDEEKASAKKSRVVSD	RKAAVLSDSEDEKKASAKKSRVVSD	9.0	4.0	unscreened	-	1913_2:128262269-128262269 C>T_RKAAVLSDSEDEKKASAKKSRVVSD
18:52921913-52921913 G>A	1.0	1913	MELANOMA	-	-	-	-	TCF4	NM_001243226,p.R491C|ENST00000544241,p.R318C|uc010xdu.1,p.R259C|ENST00000561992,p.R259C|uc021ukl.1,p.R386C|ENST00000564999,p.R389C|NM_001243227,p.R365C|NM_001243236,p.R229C|NM_001083962,p.R389C|uc021ukg.1,p.R229C|NM_001243235,p.R229C|uc021ukk.1,p.R329C|NM_001243228,p.R395C|uc021ukh.1,p.R229C|uc002lga.3,p.R491C|uc002lfw.4,p.R229C|uc010xdw.1,p.R259C|uc010dph.1,p.R389C|uc002lfy.2,p.R347C|NM_001243232,p.R318C|ENST00000567880,p.R329C|ENST00000566286,p.R386C|ENST00000566279,p.R329C|ENST00000457482,p.R229C|uc002lfz.2,p.R389C|uc010xdy.1,p.R365C|ENST00000540999,p.R365C|NM_001243230,p.R386C|ENST00000561831,p.R229C|ENST00000354452,p.R389C|uc021uki.1,p.R318C|ENST00000543082,p.R347C|NM_001243234,p.R229C|ENST00000568740,p.R364C|ENST00000570177,p.R259C|ENST00000537578,p.R365C|uc010dpi.3,p.R395C|ENST00000568673,p.R365C|uc002lfx.2,p.R318C|ENST00000564403,p.R395C|ENST00000398339,p.R491C|ENST00000564228,p.R318C|ENST00000570287,p.R229C|uc021ukj.1,p.R329C|NM_001243233,p.R259C|ENST00000537856,p.R259C|ENST00000356073,p.R389C|NM_001243231,p.R347C|uc010xdv.1,p.R259C|ENST00000565018,p.R389C|uc010xdx.1,p.R365C|NM_003199,p.R389C	retained_intron, protein_coding, processed_transcript	uc021ukl.1	nonsynonymous SNV	exon14	c.C1156T	p.R386C	GPLHSLQSRIEDRLERLDDAIHVLR	GPLHSLQSRIEDCLERLDDAIHVLR	6.0	9.0	unscreened	-	1913_18:52921913-52921913 G>A_GPLHSLQSRIEDCLERLDDAIHVLR
11:5536323-5536323 G>A	0.0	1913	MELANOMA	-	-	-	-	UBQLNL	NM_145053,p.P450L|uc001maz.4,p.P450L|ENST00000380184,p.P450L	protein_coding	uc001maz.4	nonsynonymous SNV	exon1	c.C1349T	p.P450L	YLAAQIMLFTSMPQLSEQWRQQLPT	YLAAQIMLFTSMLQLSEQWRQQLPT	1.0	2.0	unscreened	-	1913_11:5536323-5536323 G>A_YLAAQIMLFTSMLQLSEQWRQQLPT
16:51171370-51171370 G>A	0.0	1913	MELANOMA	-	-	-	-	SALL1	ENST00000440970,p.P1113S|ENST00000541611,p.P33S|uc021tif.1,p.P1113S|uc010cbv.3,p.P62S|NM_001127892,p.P1113S|ENST00000251020,p.P1210S|NM_002968,p.P1210S|ENST00000570206,p.P1113S	protein_coding, processed_transcript	uc021tif.1	nonsynonymous SNV	exon3	c.C3337T	p.P1113S	SVDGPMTFLGGNPVKFPEMFQKDLA	SVDGPMTFLGGNSVKFPEMFQKDLA	1.0	3.0	unscreened	-	1913_16:51171370-51171370 G>A_SVDGPMTFLGGNSVKFPEMFQKDLA
19:14817564-14817564 C>T	1.0	1913	MELANOMA	-	-	-	-	ZNF333	uc002mzn.3,p.P164S|uc002mzk.4,p.P55S|ENST00000292530,p.P164S|NM_001300912,p.P164S|NM_032433,p.P164S|ENST00000536363,p.P55S|ENST00000540689,p.P164S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mzn.3	nonsynonymous SNV	exon7	c.C490T	p.P164S	VVIPVPTLGHRNPWVARDSAVPARD	VVIPVPTLGHRNSWVARDSAVPARD	7.0	8.0	unscreened	-	1913_19:14817564-14817564 C>T_VVIPVPTLGHRNSWVARDSAVPARD
20:29956497-29956497 C>T	0.0	1913	MELANOMA	-	-	-	-	DEFB118	uc002wvr.3,p.P15L|ENST00000253381,p.P15L|NM_054112,p.P15L	protein_coding	uc002wvr.3	nonsynonymous SNV	exon1	c.C44T	p.P15L	LLLLALPMLVLLPQVIPAYSGEKKC	LLLLALPMLVLLLQVIPAYSGEKKC	1.0	6.0	unscreened	-	1913_20:29956497-29956497 C>T_LLLLALPMLVLLLQVIPAYSGEKKC
14:92909781-92909781 C>T	0.0	1913	MELANOMA	-	-	-	-	SLC24A4	uc001yai.3,p.S143F|uc001yak.3,p.S207F|NM_153647,p.S207F|ENST00000298877,p.S190F|NM_153646,p.S207F|ENST00000351924,p.S190F|NM_153648,p.S143F|uc010twm.2,p.S207F|uc010auj.3,p.S98F|ENST00000532405,p.S207F|ENST00000531433,p.S207F|ENST00000393265,p.S143F	retained_intron, protein_coding, processed_transcript	uc010twm.2	nonsynonymous SNV	exon8	c.C620T	p.S207F	VVRLTWWAVCRDSVYYTISVIVLIV	VVRLTWWAVCRDFVYYTISVIVLIV	1.0	1.0	unscreened	-	1913_14:92909781-92909781 C>T_VVRLTWWAVCRDFVYYTISVIVLIV
6:54735394-54735394 G>A	0.0	1913	MELANOMA	-	-	-	-	FAM83B	NM_001010872,p.G117E|uc003pck.4,p.G117E|ENST00000306858,p.G117E	protein_coding	uc003pck.4	nonsynonymous SNV	exon2	c.G350A	p.G117E	DLGWPYVMPGLLGGTHIDLLFHPPR	DLGWPYVMPGLLEGTHIDLLFHPPR	1.0	9.0	unscreened	-	1913_6:54735394-54735394 G>A_DLGWPYVMPGLLEGTHIDLLFHPPR
16:15869988-15869988 C>T	0.0	1913	MELANOMA	-	-	-	1	MYH11	ENST00000452625,p.R286K|ENST00000338282,p.R279K|ENST00000300036,p.R279K|NM_001040113,p.R286K|uc002ddv.3,p.R286K|NM_022844,p.R279K|NM_001040114,p.R286K|uc002ddw.3,p.R279K|uc010bvg.3,p.R111K|ENST00000576790,p.R279K|NM_002474,p.R279K|ENST00000396324,p.R286K|uc002ddx.3,p.R286K|uc002ddy.3,p.R279K	retained_intron, protein_coding, processed_transcript	uc010bvg.3	nonsynonymous SNV	exon9	c.G332A	p.R111K	EKSRAIRQARDERTFHIFYYMIAGA	EKSRAIRQARDEKTFHIFYYMIAGA	5.0	7.0	unscreened	-	1913_16:15869988-15869988 C>T_EKSRAIRQARDEKTFHIFYYMIAGA
2:33589390-33589390 G>A	1.0	1913	MELANOMA	-	-	-	-	LTBP1	NM_001166264,p.E1135K|ENST00000272273,p.E401K|uc002rou.3,p.E1177K|uc010ymz.2,p.E1135K|uc010yna.2,p.E1082K|ENST00000418533,p.E1135K|ENST00000390003,p.E1178K|NM_001166265,p.E1124K|ENST00000354476,p.E1504K|NM_206943,p.E1503K|ENST00000402934,p.E1122K|uc010ynb.2,p.E401K|NM_001166266,p.E1082K|uc021vft.1,p.E1503K|ENST00000407925,p.E1177K|uc002rov.3,p.E1124K|ENST00000404525,p.E1124K|NM_000627,p.E1177K|ENST00000404816,p.E1503K	protein_coding, processed_transcript	uc021vft.1	nonsynonymous SNV	exon30	c.G4507A	p.E1503K	CFCTHPMVLDASEKRCIRPAESNEQ	CFCTHPMVLDASKKRCIRPAESNEQ	8.0	5.0	unscreened	-	1913_2:33589390-33589390 G>A_CFCTHPMVLDASKKRCIRPAESNEQ
17:10360985-10360985 G>A	0.0	1913	MELANOMA	-	-	-	-	MYH4	uc002gmn.3,p.S550F|NM_017533,p.S550F|ENST00000255381,p.S550F	protein_coding	uc002gmn.3	nonsynonymous SNV	exon16	c.C1649T	p.S550F	EEECMFPKATDTSFKNKLYEQHLGK	EEECMFPKATDTFFKNKLYEQHLGK	1.0	5.0	unscreened	-	1913_17:10360985-10360985 G>A_EEECMFPKATDTFFKNKLYEQHLGK
14:76549594-76549594 C>T	1.0	1913	MELANOMA	-	-	-	-	IFT43	ENST00000238628,p.L162F|NM_052873,p.L162F|NM_001102564,p.L157F|uc010asm.1,p.L157F|uc001xsg.2,p.L162F|ENST00000314067,p.L157F|ENST00000542766,p.L157F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010asm.1	nonsynonymous SNV	exon8	c.C469T	p.L157F	IQTLDGEIDLKLLTKVLAPEHEVRE	IQTLDGEIDLKLFTKVLAPEHEVRE	9.0	7.0	unscreened	-	1913_14:76549594-76549594 C>T_IQTLDGEIDLKLFTKVLAPEHEVRE
7:64452936-64452936 A>T	1.0	1913	MELANOMA	-	-	-	-	ERV3-1	uc011kdr.2,p.S157T|ENST00000394323,p.S157T|uc022afc.1,p.S157T|NM_001007253,p.S157T	protein_coding, processed_transcript	uc022afc.1	nonsynonymous SNV	exon1	c.T469A	p.S157T	SCHKNRYAHPACSTDSPVTTCWDCT	SCHKNRYAHPACTTDSPVTTCWDCT	6.0	5.0	unscreened	-	1913_7:64452936-64452936 A>T_SCHKNRYAHPACTTDSPVTTCWDCT
11:65373265-65373265 ->G	1.0	1913	MELANOMA	-	-	-	-	MAP3K11	NM_002419,p.L600fs|ENST00000530153,p.L343fs|uc001oex.1,p.L107fs|ENST00000532507,p.L16fs|uc010rol.2,p.L343fs|uc001oew.3,p.L600fs|ENST00000309100,p.L600fs|uc001oev.3,p.L16fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rol.2	frameshift insertion	exon8	c.1026dupC	p.L343fs	ATWYLDSDDSSPLGSPSTPPALNGN	ATWYLDSDDSSPLRISFHTPSTQW	9.0	4.0	unscreened	-	1913_11:65373265-65373265 ->G_ATWYLDSDDSSPLRISFHTPSTQW
12:54913071-54913071 C>T	0.0	1913	MELANOMA	-	-	-	-	NCKAP1L	NM_005337,p.S527F|uc010sox.2,p.S69F|NM_001184976,p.S477F|uc010soy.2,p.S477F|ENST00000545638,p.S477F|ENST00000293373,p.S527F|uc001sgc.4,p.S527F	retained_intron, protein_coding, nonsense_mediated_decay	uc010soy.2	nonsynonymous SNV	exon16	c.C1430T	p.S477F	MNLIVFHSRMLDSVEKLLVETSDLS	MNLIVFHSRMLDFVEKLLVETSDLS	2.0	3.0	unscreened	-	1913_12:54913071-54913071 C>T_MNLIVFHSRMLDFVEKLLVETSDLS
2:179439225-179439225 T>A	1.0	1913	MELANOMA	-	-	-	-	TTN	uc021vtb.2,p.K14813N|NM_133437,p.K15005N|ENST00000359218,p.K14938N|ENST00000342175,p.K15005N|NM_003319,p.K14813N|ENST00000591111,p.K22237N|uc021vsz.2,p.K15005N|ENST00000589042,p.K23878N|NM_133378,p.K21310N|ENST00000460472,p.K14813N|uc031rqc.1,p.K23878N|NM_001267550,p.K23878N|ENST00000342992,p.K21310N|uc031rqd.1,p.K22237N|uc021vta.2,p.K14938N|NM_001256850,p.K22237N|NM_133432,p.K14938N|uc021vsy.2,p.K21310N	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon276	c.A66711T	p.K22237N	KERNGILWQTVSKALVPGNIFKSSG	KERNGILWQTVSNALVPGNIFKSSG	2.0	5.0	unscreened	-	1913_2:179439225-179439225 T>A_KERNGILWQTVSNALVPGNIFKSSG
18:23907042-23907042 G>A	1.0	1913	MELANOMA	-	-	ID=COSM3742576;OCCURENCE=1(liver)	-	TAF4B	ENST00000578121,p.D738N|NM_001293725,p.D738N|NM_005640,p.D733N|uc002kvt.4,p.D738N|ENST00000269142,p.D733N|uc002kvu.4,p.D733N	protein_coding, nonsense_mediated_decay	uc002kvu.4	nonsynonymous SNV	exon12	c.G2197A	p.D733N	DTRSQLKFLEKLDQLEKQRKDLEER	DTRSQLKFLEKLNQLEKQRKDLEER	5.0	9.0	unscreened	-	1913_18:23907042-23907042 G>A_DTRSQLKFLEKLNQLEKQRKDLEER
17:65944418-65944418 T>G	1.0	1913	MELANOMA	-	-	-	-	BPTF	NM_004459,p.V2624G|ENST00000321892,p.V2767G|uc021uca.1,p.V441G|uc002jge.3,p.V2624G|NM_182641,p.V2641G|uc002jgg.3,p.V298G|ENST00000335221,p.V2624G|ENST00000306378,p.V2641G|uc002jgf.3,p.V2641G|uc002jgh.3,p.V100G|ENST00000424123,p.V2485G	retained_intron, protein_coding, processed_transcript	uc021uca.1	nonsynonymous SNV	exon4	c.T1322G	p.V441G	KRALLDKDLQIEVQEELKRDLKIKK	KRALLDKDLQIEGQEELKRDLKIKK	9.0	3.0	unscreened	-	1913_17:65944418-65944418 T>G_KRALLDKDLQIEGQEELKRDLKIKK
19:44103342-44103342 G>A	1.0	1913	MELANOMA	-	-	-	-	ZNF576	ENST00000533118,p.G149S|uc002owy.2,p.G149S|uc002owz.2,p.G149S|NM_001145347,p.G149S|NM_024327,p.G149S|ENST00000528387,p.G149S|ENST00000391965,p.G149S|ENST00000525771,p.G149S|ENST00000529930,p.G149S|ENST00000336564,p.G149S	retained_intron, protein_coding	uc002owz.2	nonsynonymous SNV	exon3	c.G445A	p.G149S	RAPPGTFACTECGQDFAQEAGLHQH	RAPPGTFACTECSQDFAQEAGLHQH	7.0	5.0	unscreened	-	1913_19:44103342-44103342 G>A_RAPPGTFACTECSQDFAQEAGLHQH
17:1538429-1538429 G>A	1.0	1913	MELANOMA	-	-	ID=COSM3742089;OCCURENCE=1(liver)	-	SCARF1	ENST00000348987,p.R620C|ENST00000263071,p.R706C|uc002fsz.2,p.R706C|uc031qxu.1,p.R678C|NM_003693,p.R706C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qxu.1	nonsynonymous SNV	exon11	c.C2032T	p.R678C	LAGKPRGSEGPVRSVFRHFGSFQKG	LAGKPRGSEGPVCSVFRHFGSFQKG	2.0	9.0	unscreened	-	1913_17:1538429-1538429 G>A_LAGKPRGSEGPVCSVFRHFGSFQKG
9:96437278-96437278 C>T	1.0	1913	MELANOMA	-	-	-	-	PHF2	NM_005392,p.S899L|uc004aub.3,p.S899L|uc011lug.1,p.S782L|ENST00000375376,p.S130L|uc004auc.3,p.S319L|ENST00000359246,p.S899L	protein_coding	uc011lug.1	nonsynonymous SNV	exon19	c.C2345T	p.S782L	PIFKSRSKKRKGSDDAPYSPTARVG	PIFKSRSKKRKGLDDAPYSPTARVG	8.0	2.0	unscreened	-	1913_9:96437278-96437278 C>T_PIFKSRSKKRKGLDDAPYSPTARVG
11:5461959-5461959 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1686147;OCCURENCE=2(skin)	-	OR51I1	uc010qze.2,p.M262I|NM_001005288,p.M262I|ENST00000380211,p.M262I	protein_coding	uc010qze.2	nonsynonymous SNV	exon1	c.G786A	p.M262I	VLAFYVPIIAVSMIHRFWKSAPPVV	VLAFYVPIIAVSIIHRFWKSAPPVV	1.0	7.0	unscreened	-	1913_11:5461959-5461959 C>T_VLAFYVPIIAVSIIHRFWKSAPPVV
1:147095654-147095654 A>T	1.0	1913	MELANOMA	-	-	-	1	BCL9	NM_004326,p.N1059Y|ENST00000234739,p.N1059Y|uc001epq.3,p.N1059Y	protein_coding, processed_transcript	uc001epq.3	nonsynonymous SNV	exon10	c.A3175T	p.N1059Y	LPSMNNMPGMGINTQNPRISGPNPV	LPSMNNMPGMGIYTQNPRISGPNPV	8.0	9.0	unscreened	-	1913_1:147095654-147095654 A>T_LPSMNNMPGMGIYTQNPRISGPNPV
2:54891671-54891671 C>T	1.0	1913	MELANOMA	-	-	-	-	SPTBN1	NM_003128,p.P2168S|uc002rxu.3,p.P2168S|ENST00000356805,p.P2168S|uc010you.2,p.P158S	retained_intron, protein_coding	uc010you.2	nonsynonymous SNV	exon4	c.C472T	p.P158S	EQRTSSKESSPIPSPTSDRKAKTAL	EQRTSSKESSPISSPTSDRKAKTAL	10.0	5.0	unscreened	-	1913_2:54891671-54891671 C>T_EQRTSSKESSPISSPTSDRKAKTAL
20:55027182-55027182 C>T	0.0	1913	MELANOMA	-	-	-	-	CASS4	ENST00000371336,p.P317L|uc002xxr.2,p.P317L|uc002xxp.2,p.P317L|NM_001164114,p.P263L|uc002xxq.4,p.P317L|ENST00000360314,p.P317L|uc010zze.1,p.P263L|NM_020356,p.P317L|NM_001164116,p.P317L	retained_intron, protein_coding	uc010zze.1	nonsynonymous SNV	exon5	c.C788T	p.P263L	SLPEIPSYGFLVPRGTFPLDEDVSY	SLPEIPSYGFLVLRGTFPLDEDVSY	2.0	6.0	unscreened	-	1913_20:55027182-55027182 C>T_SLPEIPSYGFLVLRGTFPLDEDVSY
21:43282048-43282048 G>A	0.0	1913	MELANOMA	-	-	-	-	PRDM15	NM_022115,p.P230S|ENST00000269844,p.P230S|uc002yzq.1,p.P230S|ENST00000433067,p.P230S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002yzq.1	nonsynonymous SNV	exon6	c.C688T	p.P230S	ETESHLLEPHEIPLNVNTHKFSDCE	ETESHLLEPHEISLNVNTHKFSDCE	5.0	3.0	unscreened	-	1913_21:43282048-43282048 G>A_ETESHLLEPHEISLNVNTHKFSDCE
11:7718080-7718080 G>A	0.0	1913	MELANOMA	-	-	-	-	OVCH2	NM_198185,p.S358F|ENST00000454689,p.S358F|uc031pyw.1,p.S358F	protein_coding, processed_transcript, polymorphic_pseudogene	uc031pyw.1	nonsynonymous SNV	exon10	c.C1073T	p.S358F	LVPEEMHVLLSFSHLDVESCHHSYL	LVPEEMHVLLSFFHLDVESCHHSYL	2.0	9.0	unscreened	-	1913_11:7718080-7718080 G>A_LVPEEMHVLLSFFHLDVESCHHSYL
1:158389968-158389968 G>A	0.0	1913	MELANOMA	-	-	-	-	OR10K2	uc010pii.2,p.S230F|NM_001004476,p.S230F|ENST00000314902,p.S230F	protein_coding	uc010pii.2	nonsynonymous SNV	exon1	c.C689T	p.S230F	YVHILSAILQFPSTLGRCKAFSTCV	YVHILSAILQFPFTLGRCKAFSTCV	1.0	3.0	unscreened	-	1913_1:158389968-158389968 G>A_YVHILSAILQFPFTLGRCKAFSTCV
6:29275211-29275211 T>A	0.0	1913	MELANOMA	-	-	-	-	OR14J1	uc011dln.2,p.F249I|ENST00000377160,p.F249I|NM_030946,p.F249I	protein_coding	uc011dln.2	nonsynonymous SNV	exon1	c.T745A	p.F249I	STCLPHLFVATFFLSAAGFEFLRLP	STCLPHLFVATFILSAAGFEFLRLP	1.0	2.0	unscreened	-	1913_6:29275211-29275211 T>A_STCLPHLFVATFILSAAGFEFLRLP
6:79728824-79728824 A>G	1.0	1913	MELANOMA	-	-	-	-	PHIP	NM_017934,p.C326R|uc003pir.3,p.C326R|uc011dyp.2,p.C326R|ENST00000275034,p.C326R	protein_coding, processed_transcript	uc011dyp.2	nonsynonymous SNV	exon10	c.T976C	p.C326R	FTERPRPGVQMICSSFSAGGMFLAT	FTERPRPGVQMIRSSFSAGGMFLAT	6.0	3.0	unscreened	-	1913_6:79728824-79728824 A>G_FTERPRPGVQMIRSSFSAGGMFLAT
18:50683786-50683786 C>T	0.0	1913	MELANOMA	-	-	-	2	DCC	uc002lfe.2,p.S441F|NM_005215,p.S441F|ENST00000581580,p.S96F|uc010xdr.1,p.S289F|ENST00000442544,p.S441F|ENST00000412726,p.S289F|uc010dpf.2,p.S96F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xdr.1	nonsynonymous SNV	exon8	c.C866T	p.S289F	PSAPRDVVPVLVSSRFVRLSWRPPA	PSAPRDVVPVLVFSRFVRLSWRPPA	1.0	9.0	unscreened	-	1913_18:50683786-50683786 C>T_PSAPRDVVPVLVFSRFVRLSWRPPA
10:135020831-135020831 G>A	0.0	1913	MELANOMA	-	-	-	-	KNDC1	uc001llz.1,p.G1257E|NM_152643,p.G1257E|ENST00000368572,p.G1259E|ENST00000304613,p.G1257E	retained_intron, protein_coding, processed_transcript	uc001llz.1	nonsynonymous SNV	exon20	c.G3770A	p.G1257E	QKARILQAGTPLGLMAYLYSSDAFL	QKARILQAGTPLELMAYLYSSDAFL	1.0	8.0	unscreened	-	1913_10:135020831-135020831 G>A_QKARILQAGTPLELMAYLYSSDAFL
2:32352060-32352060 T>G	1.0	1913	MELANOMA	-	-	-	-	SPAST	NM_199436,p.F349C|uc002rod.3,p.F349C|ENST00000345662,p.F349C|NM_014946,p.F381C|uc002roc.3,p.F381C|ENST00000315285,p.F381C	protein_coding	uc002rod.3	nonsynonymous SNV	exon7	c.T1046G	p.F349C	TGLRAPARGLLLFGPPGNGKTMLAK	TGLRAPARGLLLCGPPGNGKTMLAK	6.0	5.0	unscreened	-	1913_2:32352060-32352060 T>G_TGLRAPARGLLLCGPPGNGKTMLAK
11:55405947-55405947 G>A	0.0	1913	MELANOMA	-	-	-	-	OR4P4	NM_001004124,p.M38I|uc010rij.2,p.M38I|ENST00000314612,p.M38I	protein_coding	uc010rij.2	nonsynonymous SNV	exon1	c.G114A	p.M38I	FVLFLFCYIAIWMGNLLIMISITCT	FVLFLFCYIAIWIGNLLIMISITCT	1.0	9.0	unscreened	-	1913_11:55405947-55405947 G>A_FVLFLFCYIAIWIGNLLIMISITCT
12:41967088-41967088 C>T	0.0	1913	MELANOMA	-	-	-	-	PDZRN4	ENST00000402685,p.S836F|ENST00000539469,p.S578F|NM_001164595,p.S836F|ENST00000298919,p.S576F|NM_013377,p.S578F|uc001rmr.3,p.S463F|uc009zjz.3,p.S576F|uc010skn.2,p.S836F|uc001rmq.4,p.S578F	retained_intron, protein_coding	uc010skn.2	nonsynonymous SNV	exon10	c.C2507T	p.S836F	SEHIPYLSPYHSSSYRYANIPAHAR	SEHIPYLSPYHSFSYRYANIPAHAR	1.0	3.0	unscreened	-	1913_12:41967088-41967088 C>T_SEHIPYLSPYHSFSYRYANIPAHAR
14:20529054-20529054 C>T	0.0	1913	MELANOMA	-	-	ID=COSM954156;OCCURENCE=1(endometrium)	-	OR4L1	uc001vwn.1,p.P284L|NM_001004717,p.P284L|ENST00000315683,p.P284L	protein_coding	uc001vwn.1	nonsynonymous SNV	exon1	c.C851T	p.P284L	AVFYTVITPLLNPSIYTLRNKKMQE	AVFYTVITPLLNLSIYTLRNKKMQE	1.0	7.0	unscreened	-	1913_14:20529054-20529054 C>T_AVFYTVITPLLNLSIYTLRNKKMQE
5:140202189-140202189 G>A	0.0	1913	MELANOMA	-	-	-	-	PCDHA5	NM_031501,p.V277M|ENST00000529859,p.V277M|uc003lhk.1,p.V277M|ENST00000529619,p.V277M|ENST00000378126,p.V277M|NM_018908,p.V277M|uc003lhl.2,p.V277M|uc003lhj.1,p.V277M	protein_coding	uc003lhl.2	nonsynonymous SNV	exon1	c.G829A	p.V277M	ASDADEGINKEIVYFFSNLVLDDVK	ASDADEGINKEIMYFFSNLVLDDVK	1.0	9.0	unscreened	-	1913_5:140202189-140202189 G>A_ASDADEGINKEIMYFFSNLVLDDVK
X:138633230-138633230 C>T	0.0	1913	MELANOMA	-	-	-	-	F9	ENST00000394090,p.P139L|NM_000133,p.P177L|ENST00000218099,p.P177L|uc004fas.1,p.P177L|uc004fat.1,p.P139L	protein_coding, processed_transcript	uc004fat.1	nonsynonymous SNV	exon5	c.C416T	p.P139L	ENQKSCEPAVPFPCGRVSVSQTSKL	ENQKSCEPAVPFLCGRVSVSQTSKL	1.0	9.0	unscreened	-	1913_X:138633230-138633230 C>T_ENQKSCEPAVPFLCGRVSVSQTSKL
11:55587308-55587308 C>T	0.0	1913	MELANOMA	-	-	-	-	OR5D18	NM_001001952,p.S68F|ENST00000333976,p.S68F|uc010rin.2,p.S68F	protein_coding	uc010rin.2	nonsynonymous SNV	exon1	c.C203T	p.S68F	LHTPMYFFLSQLSFVDFCYSSIIAP	LHTPMYFFLSQLFFVDFCYSSIIAP	1.0	8.0	unscreened	-	1913_11:55587308-55587308 C>T_LHTPMYFFLSQLFFVDFCYSSIIAP
3:189590732-189590732 G>A	0.0	1913	MELANOMA	-	-	-	1	TP63	NM_001114980,p.E339K|uc010hzd.1,p.E254K|NM_003722,p.E433K|ENST00000418709,p.E433K|ENST00000320472,p.E433K|ENST00000456148,p.E335K|uc003fry.2,p.E433K|NM_001114981,p.E339K|uc003fsb.2,p.E339K|ENST00000264731,p.E433K|uc021xir.1,p.E339K|ENST00000392463,p.E339K|uc003fsa.2,p.E339K|ENST00000440651,p.E429K|ENST00000392461,p.E339K|ENST00000449992,p.E254K|NM_001114982,p.E339K|NM_001114978,p.E433K|uc003frx.2,p.E433K|uc003fsd.2,p.E339K|ENST00000392460,p.E433K|ENST00000354600,p.E339K|NM_001114979,p.E433K|uc010hzc.1,p.E433K|ENST00000437221,p.E339K|uc003fsc.2,p.E339K|ENST00000382063,p.E348K|uc003frz.2,p.E433K	retained_intron, protein_coding	uc021xir.1	nonsynonymous SNV	exon8	c.G1015A	p.E339K	LELMQYLPQHTIETYRQQQQQQHQH	LELMQYLPQHTIKTYRQQQQQQHQH	1.0	9.0	unscreened	-	1913_3:189590732-189590732 G>A_LELMQYLPQHTIKTYRQQQQQQHQH
16:3367219-3367219 C>T	1.0	1913	MELANOMA	-	-	-	-	ZNF75A	NM_153028,p.H81Y|NM_001302109,p.H322Y|ENST00000574298,p.H81Y|uc002cut.4,p.H81Y	retained_intron, protein_coding, processed_transcript	uc002cut.4	nonsynonymous SNV	exon6	c.C241T	p.H81Y	PTGLKLKNDTENHQPVSLSDLEIQA	PTGLKLKNDTENYQPVSLSDLEIQA	8.0	3.0	unscreened	-	1913_16:3367219-3367219 C>T_PTGLKLKNDTENYQPVSLSDLEIQA
14:38295482-38295482 G>A	0.0	1913	MELANOMA	-	-	-	1	FOXA1,SSTR1	uc001wuj.3,p.G416E|ENST00000267368,p.G320E|ENST00000382320,p.G400E|ENST00000478811,p.G417E|ENST00000553443,p.G1686E|ENST00000476979,p.G320E|uc001wuh.3,p.G319E	protein_coding, processed_transcript, nonsense_mediated_decay	uc001wuj.3	nonsynonymous SNV	exon11	c.G1247A	p.G416E	IDTDPKNYLAYEGRAVVCLQMGNNF	IDTDPKNYLAYEERAVVCLQMGNNF	1.0	9.0	unscreened	-	1913_14:38295482-38295482 G>A_IDTDPKNYLAYEERAVVCLQMGNNF
11:55927384-55927384 G>A	0.0	1913	MELANOMA	-	-	-	-	OR8K5	NM_001004058,p.S137F|uc010rja.2,p.S137F|ENST00000313447,p.S137F	protein_coding	uc010rja.2	nonsynonymous SNV	exon1	c.C410T	p.S137F	AICNPLLYYVIMSQRLCHVLVGIQY	AICNPLLYYVIMFQRLCHVLVGIQY	1.0	7.0	unscreened	-	1913_11:55927384-55927384 G>A_AICNPLLYYVIMFQRLCHVLVGIQY
13:114504634-114504634 C>T	0.0	1913	MELANOMA	-	-	-	-	TMEM255B	uc001vuh.3,p.P173L|ENST00000375353,p.P173L|NM_182614,p.P173L	protein_coding, processed_transcript	uc001vuh.3	nonsynonymous SNV	exon7	c.C518T	p.P173L	YCCDLYACGSAEPSPAYYEFIGVSG	YCCDLYACGSAELSPAYYEFIGVSG	3.0	9.0	unscreened	-	1913_13:114504634-114504634 C>T_YCCDLYACGSAELSPAYYEFIGVSG
12:15669706-15669706 G>A	0.0	1913	MELANOMA	-	-	-	-	PTPRO	uc001rcu.2,p.G532E|ENST00000348962,p.G532E|ENST00000543886,p.G532E|uc001rcv.2,p.G532E|uc001rcw.2,p.G532E|NM_030667,p.G532E|NM_002848,p.G532E|ENST00000281171,p.G532E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rcw.2	nonsynonymous SNV	exon9	c.G1595A	p.G532E	PSDPVTFAIVPTGIKDLMLYPLGPT	PSDPVTFAIVPTEIKDLMLYPLGPT	1.0	1.0	unscreened	-	1913_12:15669706-15669706 G>A_PSDPVTFAIVPTEIKDLMLYPLGPT
7:4949544-4949544 C>T	0.0	1913	MELANOMA	-	-	-	-	MMD2	uc010ksq.3,p.G169S|ENST00000406755,p.G169S|NM_001270375,p.G169S	protein_coding	uc010ksq.3	nonsynonymous SNV	exon6	c.G505A	p.G169S	YKLVELLCYVVMGFFPALVILSMAG	YKLVELLCYVVMSFFPALVILSMAG	1.0	5.0	unscreened	-	1913_7:4949544-4949544 C>T_YKLVELLCYVVMSFFPALVILSMAG
6:43181547-43181547 G>C	1.0	1913	MELANOMA	-	-	-	-	CUL9	ENST00000372647,p.G1834A|uc003oul.3,p.G1834A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003oul.3	nonsynonymous SNV	exon29	c.G5501C	p.G1834A	EGQDFPHGEKDEGRTLEQKRNLLSC	EGQDFPHGEKDEARTLEQKRNLLSC	7.0	2.0	unscreened	-	1913_6:43181547-43181547 G>C_EGQDFPHGEKDEARTLEQKRNLLSC
10:95553042-95553042 G>A	0.0	1913	MELANOMA	-	-	-	-	LGI1	ENST00000542308,p.G210E|ENST00000371418,p.G258E|ENST00000371413,p.G258E|uc001kjc.4,p.G258E|uc021pwk.1,p.G258E|uc010qnv.2,p.G210E|NM_005097,p.G258E	protein_coding, processed_transcript	uc021pwk.1	nonsynonymous SNV	exon7	c.G773A	p.G258E	NDEYVVIAQPFTGKCIFLEWDHVEK	NDEYVVIAQPFTEKCIFLEWDHVEK	1.0	4.0	unscreened	-	1913_10:95553042-95553042 G>A_NDEYVVIAQPFTEKCIFLEWDHVEK
6:29797449-29797449 G>A	0.0	1913	MELANOMA	-	-	-	-	HLA-G	ENST00000360323,p.E292K|uc003nnw.2,p.E292K|uc031snb.1,p.E171K|uc003raj.3,p.E297K|uc003nnz.3,p.E200K|NM_002127,p.E292K|ENST00000478519,p.E200K|ENST00000428701,p.E292K|ENST00000376828,p.E297K|uc011dmb.3,p.E244K|ENST00000376818,p.E200K	retained_intron, protein_coding, nonsense_mediated_decay	uc031snb.1	nonsynonymous SNV	exon4	c.G511A	p.E171K	RYTCHVQHEGLPEPLMLRWKQSSLP	RYTCHVQHEGLPKPLMLRWKQSSLP	7.0	3.0	unscreened	-	1913_6:29797449-29797449 G>A_RYTCHVQHEGLPKPLMLRWKQSSLP
1:26371520-26371520 A>G	0.0	1913	MELANOMA	-	-	-	-	SLC30A2	ENST00000374276,p.I80T|uc001blg.1,p.I80T|NM_001004434,p.I80T	protein_coding, processed_transcript	uc001blg.1	nonsynonymous SNV	exon2	c.T239C	p.I80T	GKAQRQLYVASAICLLFMIGEVVGG	GKAQRQLYVASATCLLFMIGEVVGG	5.0	1.0	unscreened	-	1913_1:26371520-26371520 A>G_GKAQRQLYVASATCLLFMIGEVVGG
5:35644489-35644489 T>A	1.0	1913	MELANOMA	-	-	-	-	SPEF2	uc003jjn.1,p.D149E|ENST00000509059,p.D149E|ENST00000440995,p.D149E|NM_144722,p.D149E|uc003jjo.3,p.D149E|ENST00000356031,p.D149E|uc003jjq.4,p.D149E|ENST00000282469,p.D149E|NM_024867,p.D149E	retained_intron, protein_coding, nonsense_mediated_decay	uc003jjq.4	nonsynonymous SNV	exon4	c.T447A	p.D149E	QERLRHMIPRQTDFNLMRITYRFQE	QERLRHMIPRQTEFNLMRITYRFQE	2.0	9.0	unscreened	-	1913_5:35644489-35644489 T>A_QERLRHMIPRQTEFNLMRITYRFQE
10:123842341-123842341 C>T	0.0	1913	MELANOMA	-	-	-	-	TACC2	NM_206862,p.S109F|ENST00000334433,p.S109F|uc001lfv.3,p.S109F|uc009xzx.3,p.S109F|NM_001291877,p.S109F|ENST00000515273,p.S109F|NM_001291876,p.S109F|ENST00000453444,p.S109F|ENST00000369005,p.S109F|ENST00000515603,p.S109F|uc010qtv.2,p.S109F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qtv.2	nonsynonymous SNV	exon4	c.C326T	p.S109F	SPPPSQEREHPSSSMPFAECPPEGC	SPPPSQEREHPSFSMPFAECPPEGC	8.0	8.0	unscreened	-	1913_10:123842341-123842341 C>T_SPPPSQEREHPSFSMPFAECPPEGC
19:36352794-36352794 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1712188,COSM1712187;OCCURENCE=1(skin)	-	KIRREL2	uc002obz.4,p.G460R|ENST00000586102,p.G440R|ENST00000347900,p.G410R|ENST00000360202,p.G460R|NM_199179,p.G410R|NM_199180,p.G460R|uc002oca.4,p.G410R|ENST00000592409,p.G460R|uc002ocd.4,p.G457R|uc002ocb.4,p.G460R|NM_032123,p.G460R|ENST00000262625,p.G460R	protein_coding	uc002ocd.4	nonsynonymous SNV	exon11	c.G1369A	p.G457R	LVETFPAPESRGGLGPGLISVLHIS	LVETFPAPESRGRLGPGLISVLHIS	1.0	7.0	unscreened	-	1913_19:36352794-36352794 G>A_LVETFPAPESRGRLGPGLISVLHIS
19:40362835-40362835 C>T	1.0	1913	MELANOMA	-	-	-	-	FCGBP	uc002omp.4,p.D5079N|NM_003890,p.D5079N|ENST00000221347,p.D5079N	protein_coding, processed_transcript	uc002omp.4	nonsynonymous SNV	exon32	c.G15235A	p.D5079N	LSPSEYFRQCVYDLCAQKGDKAFLC	LSPSEYFRQCVYNLCAQKGDKAFLC	3.0	5.0	unscreened	-	1913_19:40362835-40362835 C>T_LSPSEYFRQCVYNLCAQKGDKAFLC
7:4949544-4949544 C>T	0.0	1913	MELANOMA	-	-	-	-	MMD2	NM_198403,p.G169S|NM_001100600,p.G193S|uc003snn.4,p.G169S|uc003sno.4,p.G193S|ENST00000401401,p.G169S|ENST00000404774,p.G193S	protein_coding	uc003sno.4	nonsynonymous SNV	exon6	c.G577A	p.G193S	YKLVELLCYVVMGFFPALVILSMPN	YKLVELLCYVVMSFFPALVILSMPN	1.0	5.0	unscreened	-	1913_7:4949544-4949544 C>T_YKLVELLCYVVMSFFPALVILSMPN
19:50549930-50549930 G>A	1.0	1913	MELANOMA	-	-	-	-	ZNF473	uc010ybo.2,p.E732K|ENST00000270617,p.E744K|NM_015428,p.E744K|uc002prm.3,p.E744K|ENST00000445728,p.E732K|NM_001006656,p.E744K|uc002prn.3,p.E744K|ENST00000595661,p.E744K|ENST00000391821,p.E744K	retained_intron, protein_coding, nonsense_mediated_decay	uc010ybo.2	nonsynonymous SNV	exon4	c.G2194A	p.E732K	CDYCGKAFGLSAELVRHQRIHTGEK	CDYCGKAFGLSAKLVRHQRIHTGEK	6.0	5.0	unscreened	-	1913_19:50549930-50549930 G>A_CDYCGKAFGLSAKLVRHQRIHTGEK
1:26371520-26371520 A>G	0.0	1913	MELANOMA	-	-	-	-	SLC30A2	uc001blh.1,p.I80T|ENST00000374278,p.I80T|NM_032513,p.I80T	protein_coding, processed_transcript	uc001blh.1	nonsynonymous SNV	exon2	c.T239C	p.I80T	GKAQRQLYVASAICLLFMIGEVVEI	GKAQRQLYVASATCLLFMIGEVVEI	5.0	1.0	unscreened	-	1913_1:26371520-26371520 A>G_GKAQRQLYVASATCLLFMIGEVVEI
9:123914958-123914958 C>T	1.0	1913	MELANOMA	-	-	ID=COSM1104748;OCCURENCE=2(endometrium)	1	CNTRL	uc004bkx.1,p.R1387C|uc004bla.1,p.R835C|ENST00000238341,p.R1387C|ENST00000373850,p.R835C|ENST00000373847,p.R835C|ENST00000431571,p.R56C|NM_007018,p.R1387C|ENST00000373855,p.R1387C|uc004blb.1,p.R56C|uc010mvo.1,p.R56C	protein_coding, processed_transcript	uc010mvo.1	nonsynonymous SNV	exon7	c.C166T	p.R56C	CEVEELHRTVQKRQQQKDFIDGNVE	CEVEELHRTVQKCQQQKDFIDGNVE	8.0	4.0	unscreened	-	1913_9:123914958-123914958 C>T_CEVEELHRTVQKCQQQKDFIDGNVE
6:31753506-31753506 G>A	1.0	1913	MELANOMA	-	-	-	-	VARS	ENST00000444930,p.R74C|uc003nxe.3,p.R369C|NM_006295,p.R369C|ENST00000375663,p.R369C	retained_intron, protein_coding, processed_transcript	uc003nxe.3	nonsynonymous SNV	exon9	c.C1105T	p.R369C	TNAIQDSLTRWHRMRGETTLWNPGC	TNAIQDSLTRWHCMRGETTLWNPGC	10.0	2.0	unscreened	-	1913_6:31753506-31753506 G>A_TNAIQDSLTRWHCMRGETTLWNPGC
15:75664412-75664412 G>A	1.0	1913	MELANOMA	-	-	-	-	SIN3A	uc002baj.3,p.P1244S|NM_001145358,p.P1244S|uc002bai.3,p.P1244S|ENST00000394947,p.P1244S|NM_015477,p.P1244S|ENST00000394949,p.P1244S|NM_001145357,p.P1244S|ENST00000360439,p.P1244S|uc010uml.2,p.P1244S	retained_intron, protein_coding	uc010uml.2	nonsynonymous SNV	exon21	c.C3730T	p.P1244S	KWLMGEGLEGLVPCTTTCDTETLHF	KWLMGEGLEGLVSCTTTCDTETLHF	8.0	9.0	unscreened	-	1913_15:75664412-75664412 G>A_KWLMGEGLEGLVSCTTTCDTETLHF
5:140562543-140562543 G>A	1.0	1913	MELANOMA	-	-	-	-	PCDHB16	NM_020957,p.E137K|ENST00000361016,p.E137K|uc003liv.3,p.E137K	protein_coding	uc003liv.3	nonsynonymous SNV	exon1	c.G409A	p.E137K	DINDHSPMFTEKEMILKIPENSPLG	DINDHSPMFTEKKMILKIPENSPLG	4.0	2.0	unscreened	-	1913_5:140562543-140562543 G>A_DINDHSPMFTEKKMILKIPENSPLG
1:153991432-153991432 C>T	0.0	1913	MELANOMA	-	-	-	-	NUP210L	ENST00000368559,p.G1544R|uc009woq.3,p.G453R|uc010peh.2,p.G1544R|NM_207308,p.G1544R|ENST00000368553,p.G477R|uc001fdw.3,p.G1544R|ENST00000271854,p.G1544R|NM_001159484,p.G1544R	protein_coding	uc010peh.2	nonsynonymous SNV	exon33	c.G4630A	p.G1544R	SPGTAMIFHDIPGVVKTYREVVVNA	SPGTAMIFHDIPRVVKTYREVVVNA	2.0	9.0	unscreened	-	1913_1:153991432-153991432 C>T_SPGTAMIFHDIPRVVKTYREVVVNA
7:100551889-100551889 G>A	0.0	1913	MELANOMA	-	-	-	-	MUC3A	ENST00000319509,p.E214K|uc003uxl.1,p.E114K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxl.1	nonsynonymous SNV	exon1	c.G340A	p.E114K	QTSLTSTSEFTTESFTRGSTSTNAI	QTSLTSTSEFTTKSFTRGSTSTNAI	1.0	1.0	unscreened	-	1913_7:100551889-100551889 G>A_QTSLTSTSEFTTKSFTRGSTSTNAI
17:10608551-10608551 C>T	1.0	1913	MELANOMA	-	-	-	-	ADPRM	ENST00000379774,p.P103L|uc002gmt.3,p.P103L|uc010vvg.1,p.P103L|NM_020233,p.P103L|ENST00000468843,p.P103L|ENST00000527582,p.P103L	protein_coding, nonsense_mediated_decay	uc010vvg.1	nonsynonymous SNV	exon1	c.C308T	p.P103L	ELVMDMFKRLKVPVHHTWGNHEFYN	ELVMDMFKRLKVLVHHTWGNHEFYN	6.0	3.0	unscreened	-	1913_17:10608551-10608551 C>T_ELVMDMFKRLKVLVHHTWGNHEFYN
11:4674285-4674285 C>T	0.0	1913	MELANOMA	-	-	-	-	OR51E1	uc001lzi.4,p.L177F|NM_152430,p.L177F|uc021qcq.1,p.L177F|ENST00000396952,p.L177F	protein_coding	uc021qcq.1	nonsynonymous SNV	exon1	c.C529T	p.L177F	FIKQLPFCRSNILSHSYCLHQDVMK	FIKQLPFCRSNIFSHSYCLHQDVMK	1.0	8.0	unscreened	-	1913_11:4674285-4674285 C>T_FIKQLPFCRSNIFSHSYCLHQDVMK
11:43465702-43465702 C>T	1.0	1913	MELANOMA	-	-	ID=COSM3787978,COSM231245;OCCURENCE=1(large_intestine),1(pancreas),1(skin)	-	TTC17	NM_018259,p.R870C|uc001mxj.3,p.R697C|uc010rfj.2,p.R870C|ENST00000299240,p.R927C|uc001mxi.3,p.R870C|ENST00000039989,p.R870C|uc001mxh.3,p.R927C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rfj.2	nonsynonymous SNV	exon18	c.C2608T	p.R870C	KKVETGQIENGHRYQANLEITGPKV	KKVETGQIENGHCYQANLEITGPKV	9.0	7.0	unscreened	-	1913_11:43465702-43465702 C>T_KKVETGQIENGHCYQANLEITGPKV
11:67048634-67048634 G>A	1.0	1913	MELANOMA	-	-	ID=COSM1244560;OCCURENCE=1(oesophagus)	-	ADRBK1	NM_001619,p.R209Q|uc009yrn.1,p.R209Q|ENST00000308595,p.R209Q|ENST00000526285,p.R209Q	retained_intron, protein_coding, processed_transcript	uc009yrn.1	nonsynonymous SNV	exon8	c.G626A	p.R209Q	IGRGGFGEVYGCRKADTGKMYAMKC	IGRGGFGEVYGCQKADTGKMYAMKC	9.0	1.0	unscreened	-	1913_11:67048634-67048634 G>A_IGRGGFGEVYGCQKADTGKMYAMKC
11:56230776-56230776 C>T	0.0	1913	MELANOMA	-	-	-	-	OR5M9	NM_001004743,p.M34I|uc010rjj.2,p.M34I|ENST00000279791,p.M34I	protein_coding	uc010rjj.2	nonsynonymous SNV	exon1	c.G102A	p.M34I	QVLFFVVFLAVYMITLLGNIGMIIL	QVLFFVVFLAVYIITLLGNIGMIIL	1.0	7.0	unscreened	-	1913_11:56230776-56230776 C>T_QVLFFVVFLAVYIITLLGNIGMIIL
14:105412562-105412562 G>A	1.0	1913	MELANOMA	-	-	-	-	AHNAK2	uc001ypx.2,p.R2976C|uc010axc.1,p.R3076C|NM_138420,p.R3076C|ENST00000333244,p.R3076C	retained_intron, protein_coding	uc010axc.1	nonsynonymous SNV	exon7	c.C9226T	p.R3076C	LQMPSFKMPKVDRKGPQIDVKGPKL	LQMPSFKMPKVDCKGPQIDVKGPKL	6.0	9.0	unscreened	-	1913_14:105412562-105412562 G>A_LQMPSFKMPKVDCKGPQIDVKGPKL
18:55221587-55221587 T>C	1.0	1913	MELANOMA	-	-	-	-	FECH	ENST00000592699,p.K295E|ENST00000262093,p.K328E|NM_000140,p.K328E|uc002lgq.4,p.K328E|ENST00000382873,p.K334E|uc002lgr.4,p.K186E|uc002lgp.4,p.K334E|NM_001012515,p.K334E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lgr.4	nonsynonymous SNV	exon9	c.A556G	p.K186E	DESIKGLCERGRKNILLVPIAFTSD	DESIKGLCERGRENILLVPIAFTSD	7.0	9.0	unscreened	-	1913_18:55221587-55221587 T>C_DESIKGLCERGRENILLVPIAFTSD
3:121350827-121350827 C>T	0.0	1913	MELANOMA	-	-	-	-	HCLS1	ENST00000314583,p.G443R|uc011bjj.2,p.G406R|ENST00000428394,p.G406R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bjj.2	nonsynonymous SNV	exon13	c.G1216A	p.G406R	ISAVAVYDYQGEGSDELSFDPDDVI	ISAVAVYDYQGERSDELSFDPDDVI	5.0	8.0	unscreened	-	1913_3:121350827-121350827 C>T_ISAVAVYDYQGERSDELSFDPDDVI
1:161953545-161953545 C>T	1.0	1913	MELANOMA	-	-	-	-	OLFML2B	uc001gbt.3,p.D208N|NM_001297713,p.D726N|NM_015441,p.D725N|ENST00000533556,p.D65N|ENST00000525589,p.D63N|uc001gbu.3,p.D725N|ENST00000367938,p.D208N|ENST00000294794,p.D725N|uc010pkq.2,p.D726N|ENST00000367940,p.D726N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010pkq.2	nonsynonymous SNV	exon8	c.G2176A	p.D726N	LFENEYSYTTQIDYNPKDRLLYAWD	LFENEYSYTTQINYNPKDRLLYAWD	4.0	7.0	unscreened	-	1913_1:161953545-161953545 C>T_LFENEYSYTTQINYNPKDRLLYAWD
3:194118977-194118977 C>T	0.0	1913	MELANOMA	-	-	-	-	GP5	NM_004488,p.G12E|ENST00000323007,p.G12E|uc003ftv.1,p.G12E|uc021xiz.1,p.G12E|ENST00000401815,p.G12E	protein_coding	uc021xiz.1	nonsynonymous SNV	exon1	c.G35A	p.G12E	MLRGTLLCAVLGLLRAQPFPCPPA	MLRGTLLCAVLELLRAQPFPCPPA	1.0	7.0	unscreened	-	1913_3:194118977-194118977 C>T_MLRGTLLCAVLELLRAQPFPCPPA
4:126242691-126242691 G>A	0.0	1913	MELANOMA	-	-	-	1	FAT4	uc003ifj.4,p.V1709I|NM_001291303,p.V1709I|NM_001291285,p.V1709I|ENST00000394329,p.V1709I|NM_024582,p.V1709I	retained_intron, protein_coding	uc003ifj.4	nonsynonymous SNV	exon1	c.G5125A	p.V1709I	DREQGACLYLVDVYAIEKSTAFPRT	DREQGACLYLVDIYAIEKSTAFPRT	1.0	9.0	unscreened	-	1913_4:126242691-126242691 G>A_DREQGACLYLVDIYAIEKSTAFPRT
3:151545479-151545479 T>A	0.0	1913	MELANOMA	-	-	-	-	AADAC	ENST00000232892,p.F240Y|NM_001086,p.F240Y|uc003eze.3,p.F240Y	protein_coding	uc003eze.3	nonsynonymous SNV	exon5	c.T719A	p.F240Y	DLPSYQENSNFLFLSKSLMVRFWSE	DLPSYQENSNFLYLSKSLMVRFWSE	2.0	9.0	unscreened	-	1913_3:151545479-151545479 T>A_DLPSYQENSNFLYLSKSLMVRFWSE
2:206166412-206166412 G>A	1.0	1913	MELANOMA	-	-	-	-	PARD3B	ENST00000351153,p.G804S|uc002vao.2,p.G873S|NM_205863,p.G873S|NM_152526,p.G811S|NM_057177,p.G804S|ENST00000406610,p.G873S|ENST00000358768,p.G811S|uc002vaq.2,p.G804S|ENST00000349953,p.G873S|uc002vap.2,p.G811S|uc002var.2,p.G873S	protein_coding, processed_transcript, nonsense_mediated_decay	uc002var.2	nonsynonymous SNV	exon18	c.G2617A	p.G873S	EDPERKIKKKGFGAMLRFGKKKEDK	EDPERKIKKKGFSAMLRFGKKKEDK	4.0	6.0	unscreened	-	1913_2:206166412-206166412 G>A_EDPERKIKKKGFSAMLRFGKKKEDK
22:25313719-25313719 G>A	0.0	1913	MELANOMA	-	-	-	-	SGSM1	NM_001098497,p.R1008Q|ENST00000400358,p.R1008Q|NM_001098498,p.R947Q|uc003abj.2,p.R947Q|uc003abg.2,p.R1063Q|NM_001039948,p.R1063Q|ENST00000400359,p.R1063Q|uc003abi.1,p.R983Q|uc010guu.1,p.R1008Q|NM_133454,p.R1002Q|uc003abh.2,p.R1002Q	retained_intron, protein_coding, processed_transcript	uc010guu.1	nonsynonymous SNV	exon23	c.G3023A	p.R1008Q	YFCYRWFLLDFKRELVYDDVFLVWE	YFCYRWFLLDFKQELVYDDVFLVWE	1.0	8.0	unscreened	-	1913_22:25313719-25313719 G>A_YFCYRWFLLDFKQELVYDDVFLVWE
11:7064042-7064042 A>C	0.0	1913	MELANOMA	-	-	-	-	NLRP14	uc001mfb.1,p.D262A|ENST00000299481,p.D262A|NM_176822,p.D262A	protein_coding	uc001mfb.1	nonsynonymous SNV	exon4	c.A785C	p.D262A	QPSSLLFIIDSFDELNFAFEEPEFA	QPSSLLFIIDSFAELNFAFEEPEFA	1.0	2.0	unscreened	-	1913_11:7064042-7064042 A>C_QPSSLLFIIDSFAELNFAFEEPEFA
11:8959569-8959569 G>A	0.0	1913	MELANOMA	-	-	-	-	ASCL3	uc021qdj.1,p.S47F|ENST00000325884,p.S47F|uc001mhd.1,p.S47F|NM_020646,p.S47F|ENST00000531618,p.S47F	protein_coding	uc021qdj.1	nonsynonymous SNV	exon1	c.C140T	p.S47F	VTFHVHPEAPVSSPYSEELPRLPFP	VTFHVHPEAPVSFPYSEELPRLPFP	1.0	3.0	unscreened	-	1913_11:8959569-8959569 G>A_VTFHVHPEAPVSFPYSEELPRLPFP
X:150773171-150773171 C>T	0.0	1913	MELANOMA	-	-	-	-	PASD1	uc004fev.4,p.P28S|NM_173493,p.P28S|ENST00000370357,p.P28S	retained_intron, protein_coding	uc004fev.4	nonsynonymous SNV	exon3	c.C82T	p.P28S	SSQRKLNWIPSFPTYDYFNQVTLQL	SSQRKLNWIPSFSTYDYFNQVTLQL	1.0	9.0	unscreened	-	1913_X:150773171-150773171 C>T_SSQRKLNWIPSFSTYDYFNQVTLQL
1:181754494-181754494 G>A	0.0	1913	MELANOMA	-	-	-	-	CACNA1E	ENST00000357570,p.M1824I|uc001gow.3,p.M1873I|ENST00000367567,p.M1480I|NM_001205293,p.M1873I|ENST00000526775,p.M1854I|ENST00000358338,p.M1805I|NM_000721,p.M1873I|NM_001205294,p.M1854I|uc009wxt.3,p.M1873I|uc009wxs.3,p.M1854I|ENST00000360108,p.M1854I|ENST00000367573,p.M1873I|ENST00000367570,p.M1873I	retained_intron, protein_coding	uc009wxt.3	nonsynonymous SNV	exon42	c.G5619A	p.M1873I	SDLTVGKIYAAMMIMDYYKQSKVKK	SDLTVGKIYAAMIIMDYYKQSKVKK	1.0	4.0	unscreened	-	1913_1:181754494-181754494 G>A_SDLTVGKIYAAMIIMDYYKQSKVKK
5:42718183-42718183 C>T	0.0	1913	MELANOMA	-	-	-	-	GHR	ENST00000230882,p.P302L|uc011cpq.2,p.P115L|uc021xxv.1,p.P309L|NM_001242404,p.P302L|uc003jmu.3,p.P302L|ENST00000357703,p.P280L|NM_001242403,p.P302L|NM_001242405,p.P302L|uc021xyd.1,p.P280L|NM_001242402,p.P302L|uc003jmv.2,p.P302L|uc021xxy.1,p.P302L|uc003jmt.3,p.P302L|NM_001242460,p.P280L|NM_001242399,p.P309L|NM_001242400,p.P302L|uc021xya.1,p.P302L|uc021xxx.1,p.P302L|NM_001242401,p.P302L|NM_000163,p.P302L|NM_001242406,p.P302L|ENST00000537449,p.P115L|uc021xxz.1,p.P302L|uc021xxw.1,p.P302L	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xyd.1	nonsynonymous SNV	exon7	c.C839T	p.P280L	QQRIKMLILPPVPVPKIKGIDPDLL	QQRIKMLILPPVLVPKIKGIDPDLL	1.0	1.0	unscreened	-	1913_5:42718183-42718183 C>T_QQRIKMLILPPVLVPKIKGIDPDLL
12:32754234-32754234 A>C	1.0	1913	MELANOMA	-	-	-	-	FGD4	ENST00000546442,p.E145A|ENST00000534526,p.E375A|ENST00000525053,p.E350A|uc001rkz.3,p.E238A|uc010ske.2,p.E350A|uc001rlc.3,p.E323A|NM_139241,p.E238A|ENST00000427716,p.E238A|ENST00000531134,p.E323A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ske.2	nonsynonymous SNV	exon6	c.A1049C	p.E350A	DLLDQVFYCKLLEEANRGSFPAEMV	DLLDQVFYCKLLAEANRGSFPAEMV	5.0	8.0	unscreened	-	1913_12:32754234-32754234 A>C_DLLDQVFYCKLLAEANRGSFPAEMV
16:74446997-74446997 G>A	0.0	1913	MELANOMA	-	-	-	-	CLEC18B	uc010vmu.1,p.S125L|ENST00000339953,p.S205L|uc002fct.3,p.S205L|NM_001011880,p.S205L|uc002fcu.3,p.S205L	retained_intron, protein_coding	uc010vmu.1	nonsynonymous SNV	exon4	c.C374T	p.S125L	KTIIPYKKGAWCSLCTASVSGCFKA	KTIIPYKKGAWCLLCTASVSGCFKA	5.0	1.0	unscreened	-	1913_16:74446997-74446997 G>A_KTIIPYKKGAWCLLCTASVSGCFKA
1:18807582-18807582 G>A	0.0	1913	MELANOMA	-	-	-	-	KLHDC7A	ENST00000400664,p.R36K|NM_152375,p.R36K|uc001bax.3,p.R36K	protein_coding	uc001bax.3	nonsynonymous SNV	exon1	c.G107A	p.R36K	SAAALLLVTVAYRLYKSRPAPAQRW	SAAALLLVTVAYKLYKSRPAPAQRW	1.0	3.0	unscreened	-	1913_1:18807582-18807582 G>A_SAAALLLVTVAYKLYKSRPAPAQRW
11:123754795-123754795 G>T	0.0	1913	MELANOMA	-	-	-	-	TMEM225	uc001pzi.3,p.F150L|ENST00000528595,p.F100L|NM_001013743,p.F150L|ENST00000375026,p.F150L	protein_coding	uc001pzi.3	nonsynonymous SNV	exon3	c.C450A	p.F150L	TWIMYTAYLNVFFLSVCGVLSLLEC	TWIMYTAYLNVFLLSVCGVLSLLEC	1.0	9.0	unscreened	-	1913_11:123754795-123754795 G>T_TWIMYTAYLNVFLLSVCGVLSLLEC
18:22048767-22048767 C>T	0.0	1913	MELANOMA	-	-	-	-	HRH4	NM_021624,p.P70L|ENST00000256906,p.P70L|uc002kvi.3,p.P70L	protein_coding	uc002kvi.3	nonsynonymous SNV	exon2	c.C209T	p.P70L	AISDFFVGVISIPLYIPHTLFEWDF	AISDFFVGVISILLYIPHTLFEWDF	1.0	9.0	unscreened	-	1913_18:22048767-22048767 C>T_AISDFFVGVISILLYIPHTLFEWDF
11:55371518-55371518 A>T	0.0	1913	MELANOMA	-	-	-	-	OR4C11	NM_001004700,p.F111Y|uc010rii.2,p.F111Y|ENST00000302231,p.F111Y	protein_coding	uc010rii.2	nonsynonymous SNV	exon1	c.T332A	p.F111Y	VFALHLFGCMEIFVLILMAVDRYVA	VFALHLFGCMEIYVLILMAVDRYVA	1.0	9.0	unscreened	-	1913_11:55371518-55371518 A>T_VFALHLFGCMEIYVLILMAVDRYVA
6:28116257-28116257 C>G	1.0	1913	MELANOMA	-	-	-	-	ZKSCAN8	NM_006298,p.I24M|ENST00000457389,p.I24M|uc010jqx.2,p.I24M|NM_001278119,p.I24M|uc003nkn.2,p.I24M|ENST00000536028,p.I24M|ENST00000606198,p.I24M|ENST00000330236,p.I24M	protein_coding	uc010jqx.2	nonsynonymous SNV	exon3	c.C72G	p.I24M	SPPDQTPEEDLVIVKVEEDHGWDQE	SPPDQTPEEDLVMVKVEEDHGWDQE	6.0	2.0	unscreened	-	1913_6:28116257-28116257 C>G_SPPDQTPEEDLVMVKVEEDHGWDQE
1:15987751-15987751 C>T	1.0	1913	MELANOMA	-	-	-	-	RSC1A1	uc010obn.2,p.S463F|ENST00000345034,p.S463F|NM_006511,p.S463F	protein_coding	uc010obn.2	nonsynonymous SNV	exon1	c.C1388T	p.S463F	DGLSTDKEGVPKSRESINKNRSVTV	DGLSTDKEGVPKFRESINKNRSVTV	1.0	2.0	unscreened	-	1913_1:15987751-15987751 C>T_DGLSTDKEGVPKFRESINKNRSVTV
9:107456906-107456906 G>A	0.0	1913	MELANOMA	-	-	ID=COSM232953;OCCURENCE=1(skin),2(urinary_tract)	-	OR13D1	uc011lvs.2,p.M68I|ENST00000318763,p.M68I|NM_001004484,p.M68I	protein_coding	uc011lvs.2	nonsynonymous SNV	exon1	c.G204A	p.M68I	QLFLFLLCLIMYMIILLGNSLLIII	QLFLFLLCLIMYIIILLGNSLLIII	1.0	9.0	unscreened	-	1913_9:107456906-107456906 G>A_QLFLFLLCLIMYIIILLGNSLLIII
9:34242002-34242002 G>A	1.0	1913	MELANOMA	-	-	-	-	UBAP1	uc003zty.3,p.D327N|uc011loi.2,p.D363N|NM_001171201,p.D391N|uc022bfz.1,p.D327N|NM_016525,p.D327N|uc003ztz.3,p.D327N|ENST00000543944,p.D363N|ENST00000545103,p.D391N|ENST00000297661,p.D327N|NM_001171202,p.D363N|uc022bfy.1,p.D327N|ENST00000540348,p.D327N|uc003ztx.3,p.D327N|NM_001171203,p.D327N|uc011loj.2,p.D391N|ENST00000379186,p.D327N|ENST00000359544,p.D327N|ENST00000536252,p.D327N|NM_001171204,p.D327N|uc010mka.2,p.D363N	protein_coding	uc022bfz.1	nonsynonymous SNV	exon5	c.G979A	p.D327N	GHHTLGLSALNLDSGTEMPALTSSQ	GHHTLGLSALNLNSGTEMPALTSSQ	8.0	8.0	unscreened	-	1913_9:34242002-34242002 G>A_GHHTLGLSALNLNSGTEMPALTSSQ
11:112071413-112071413 C>T	0.0	1913	MELANOMA	0.0005	-	-	-	BCO2	ENST00000531169,p.R281W|NM_031938,p.R315W|uc010rwt.2,p.R210W|NM_001037290,p.R281W|ENST00000361053,p.R242W|uc001pne.1,p.R142W|uc001pnh.3,p.R281W|NM_001256397,p.R281W|ENST00000357685,p.R315W|uc001png.3,p.R242W|uc009yyn.3,p.R281W|ENST00000526088,p.R281W|uc001pni.3,p.R281W|NM_001256400,p.R210W|NM_001256398,p.R242W|ENST00000438022,p.R281W|uc001pnf.3,p.R315W|ENST00000393032,p.R281W|ENST00000532593,p.R210W	retained_intron, protein_coding, nonsense_mediated_decay	uc010rwt.2	nonsynonymous SNV	exon6	c.C628T	p.R210W	KMNLWKIATSKIRGKAFSDGISWEP	KMNLWKIATSKIWGKAFSDGISWEP	4.0	9.0	unscreened	-	1913_11:112071413-112071413 C>T_KMNLWKIATSKIWGKAFSDGISWEP
6:31929084-31929084 C>T	1.0	1913	MELANOMA	-	-	-	-	SKIV2L	uc011dov.1,p.P44L|ENST00000375394,p.P237L|uc011dou.1,p.P79L|NM_006929,p.P237L|uc003nyn.1,p.P237L|ENST00000544581,p.P44L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dov.1	nonsynonymous SNV	exon4	c.C131T	p.P44L	EDENEAVGQPGGPRGDTVSASPCSA	EDENEAVGQPGGLRGDTVSASPCSA	9.0	9.0	unscreened	-	1913_6:31929084-31929084 C>T_EDENEAVGQPGGLRGDTVSASPCSA
10:63852773-63852773 C>T	1.0	1913	MELANOMA	-	-	-	-	ARID5B	NM_001244638,p.P941L|ENST00000279873,p.P1184L|uc001jlt.2,p.P1184L|uc001jlu.2,p.P941L|NM_032199,p.P1184L|ENST00000309334,p.P941L	protein_coding	uc001jlu.2	nonsynonymous SNV	exon7	c.C2822T	p.P941L	AAFPSSQLSSVHPSTKL	AAFPSSQLSSVHLSTKL	4.0	4.0	unscreened	-	1913_10:63852773-63852773 C>T_AAFPSSQLSSVHLSTKL
17:43530835-43530835 C>G	1.0	1913	MELANOMA	-	-	-	-	PLEKHM1	ENST00000430334,p.E795Q|uc010wjn.1,p.E744Q|uc002ija.3,p.E795Q|NM_014798,p.E795Q|uc010wjm.2,p.E767Q|uc002ijc.3,p.E249Q|ENST00000421073,p.E706Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wjn.1	nonsynonymous SNV	exon6	c.G2230C	p.E744Q	AEEAVTLGGSLDENCQEVLKFATRE	AEEAVTLGGSLDQNCQEVLKFATRE	7.0	4.0	unscreened	-	1913_17:43530835-43530835 C>G_AEEAVTLGGSLDQNCQEVLKFATRE
15:41860507-41860507 G>A	0.0	1913	MELANOMA	-	-	-	-	TYRO3	ENST00000263798,p.E352K|ENST00000559066,p.E307K|NM_006293,p.E352K|uc001zof.2,p.E352K	retained_intron, protein_coding, nonsense_mediated_decay	uc001zof.2	nonsynonymous SNV	exon8	c.G1054A	p.E352K	LEWEEVIPEAPLEGPLGPYKLSWVQ	LEWEEVIPEAPLKGPLGPYKLSWVQ	8.0	1.0	unscreened	-	1913_15:41860507-41860507 G>A_LEWEEVIPEAPLKGPLGPYKLSWVQ
10:12867642-12867642 C>T	1.0	1913	MELANOMA	-	-	-	-	CAMK1D	ENST00000378847,p.S331L|NM_020397,p.S331L|ENST00000378845,p.S331L|uc001ilo.3,p.S331L|NM_153498,p.S331L|uc001iln.3,p.S331L	protein_coding, processed_transcript	uc001ilo.3	nonsynonymous SNV	exon10	c.C992T	p.S331L	MRKLHLGSSLDSSNASVSSSLSLAS	MRKLHLGSSLDSLNASVSSSLSLAS	1.0	7.0	unscreened	-	1913_10:12867642-12867642 C>T_MRKLHLGSSLDSLNASVSSSLSLAS
11:6867664-6867664 C>T	0.0	1913	MELANOMA	-	-	-	-	OR10A5	ENST00000379831,p.L255F|ENST00000299454,p.L251F|NM_178168,p.L251F|uc001met.1,p.L251F	protein_coding	uc001met.1	nonsynonymous SNV	exon1	c.C751T	p.L251F	FSTCSSHLLVVSLFYISSSLTYFWP	FSTCSSHLLVVSFFYISSSLTYFWP	1.0	9.0	unscreened	-	1913_11:6867664-6867664 C>T_FSTCSSHLLVVSFFYISSSLTYFWP
5:153085405-153085405 C>T	0.0	1913	MELANOMA	-	-	-	-	GRIA1	uc003luy.4,p.P534L|ENST00000340592,p.P534L|NM_001258020,p.P439L|NM_000827,p.P534L|uc011dcz.2,p.P544L|ENST00000518142,p.P454L|ENST00000448073,p.P544L|uc011dcw.2,p.P454L|ENST00000285900,p.P534L|ENST00000521843,p.P465L|uc011dcx.2,p.P465L|NM_001258023,p.P465L|uc011dcy.2,p.P544L|ENST00000518783,p.P544L|uc003luz.4,p.P439L|NM_001114183,p.P534L|NM_001258019,p.P454L|NM_001258022,p.P544L|uc010jia.1,p.P514L|uc003lva.4,p.P534L|NM_001258021,p.P544L	retained_intron, protein_coding, processed_transcript	uc011dcz.2	nonsynonymous SNV	exon11	c.C1631T	p.P544L	QKSKPGVFSFLDPLAYEIWMCIVFA	QKSKPGVFSFLDLLAYEIWMCIVFA	1.0	7.0	unscreened	-	1913_5:153085405-153085405 C>T_QKSKPGVFSFLDLLAYEIWMCIVFA
5:76251529-76251529 C>T	0.0	1913	MELANOMA	-	-	-	-	CRHBP	uc003ker.3,p.H129Y|ENST00000506501,p.H129Y|uc010izx.3,p.H129Y|NM_001882,p.H129Y|ENST00000274368,p.H129Y	retained_intron, protein_coding, processed_transcript	uc010izx.3	nonsynonymous SNV	exon4	c.C385T	p.H129Y	ILKGEKFPSSQDHPLPSAERYIDFC	ILKGEKFPSSQDYPLPSAERYIDFC	1.0	5.0	unscreened	-	1913_5:76251529-76251529 C>T_ILKGEKFPSSQDYPLPSAERYIDFC
6:32016325-32016325 C>T	0.0	1913	MELANOMA	-	-	-	-	TNXB	ENST00000375247,p.G3285D|ENST00000375244,p.G3287D|uc003nzl.2,p.G3285D|NM_019105,p.G3285D	retained_intron, protein_coding	uc003nzl.2	nonsynonymous SNV	exon29	c.G9854A	p.G3285D	SDSVGLSWTVAQGPFDSFLVQYRDA	SDSVGLSWTVAQDPFDSFLVQYRDA	3.0	9.0	unscreened	-	1913_6:32016325-32016325 C>T_SDSVGLSWTVAQDPFDSFLVQYRDA
14:20666369-20666369 C>T	0.0	1913	MELANOMA	-	-	-	-	OR11G2	NM_001005503,p.S292L|uc010tlb.2,p.S292L|ENST00000357366,p.S292L	protein_coding	uc010tlb.2	nonsynonymous SNV	exon1	c.C875T	p.S292L	GSHLAVVSLFYGSVLVMYGSPPSKN	GSHLAVVSLFYGLVLVMYGSPPSKN	1.0	2.0	unscreened	-	1913_14:20666369-20666369 C>T_GSHLAVVSLFYGLVLVMYGSPPSKN
6:144999562-144999562 T>G	1.0	1913	MELANOMA	-	-	-	-	UTRN	ENST00000367526,p.D55E	protein_coding, processed_transcript	ENST00000367526	nonsynonymous SNV	exon2	c.T165G	p.D55E	YQKLCKDIQAEIDAHNDIFKSIDGN	YQKLCKDIQAEIEAHNDIFKSIDGN	8.0	1.0	unscreened	-	1913_6:144999562-144999562 T>G_YQKLCKDIQAEIEAHNDIFKSIDGN
9:135939897-135939897 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1200673;OCCURENCE=1(large_intestine),2(urinary_tract)	-	CEL	ENST00000372080,p.P61L|NM_001807,p.P61L|ENST00000351304,p.P58L|uc010naa.2,p.P61L	protein_coding	uc010naa.2	nonsynonymous SNV	exon2	c.C182T	p.P61L	SVDIFKGIPFAAPTKALENPQPHPG	SVDIFKGIPFAALTKALENPQPHPG	3.0	3.0	unscreened	-	1913_9:135939897-135939897 C>T_SVDIFKGIPFAALTKALENPQPHPG
4:122825504-122825504 C>T	0.0	1913	MELANOMA	-	-	-	-	TRPC3	uc011cgl.1,p.M406I|NM_003305,p.M669I|ENST00000264811,p.M669I|ENST00000513531,p.M614I|uc003ieg.2,p.M742I|uc003ief.2,p.M669I|NM_001130698,p.M742I|ENST00000379645,p.M742I|uc010inr.2,p.M614I	protein_coding, nonsense_mediated_decay	uc011cgl.1	nonsynonymous SNV	exon8	c.G1218A	p.M406I	TMVVVLLNMLIAMINSSYQEIEDDS	TMVVVLLNMLIAIINSSYQEIEDDS	1.0	9.0	unscreened	-	1913_4:122825504-122825504 C>T_TMVVVLLNMLIAIINSSYQEIEDDS
17:55752377-55752377 C>T	1.0	1913	MELANOMA	-	-	-	1	MSI2	NM_138962,p.P279S|ENST00000442934,p.P218S|uc010wnm.1,p.P275S|ENST00000284073,p.P279S|uc002iuz.1,p.P279S|ENST00000416426,p.P275S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wnm.1	nonsynonymous SNV	exon12	c.C823T	p.P275S	PARPGGFPGANSPGPVADLYGPASQ	PARPGGFPGANSSGPVADLYGPASQ	10.0	5.0	unscreened	-	1913_17:55752377-55752377 C>T_PARPGGFPGANSSGPVADLYGPASQ
1:228505845-228505845 C>T	0.0	1913	MELANOMA	-	-	-	-	OBSCN	NM_001098623,p.S4701F|NM_052843,p.S4701F|NM_001271223,p.S5658F|ENST00000422127,p.S4701F|uc001hsq.2,p.S5658F|uc001hsn.4,p.S4701F|uc009xez.2,p.S4701F|ENST00000570156,p.S5658F|ENST00000284548,p.S4701F|ENST00000366709,p.S1820F|ENST00000366707,p.S2335F	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon53	c.C14102T	p.S4701F	DQGEYHCGLAQGSICPAAATFQVAL	DQGEYHCGLAQGFICPAAATFQVAL	4.0	9.0	unscreened	-	1913_1:228505845-228505845 C>T_DQGEYHCGLAQGFICPAAATFQVAL
9:112778263-112778263 G>A	1.0	1913	MELANOMA	-	-	-	-	PALM2-AKAP2	ENST00000413420,p.E408K|uc004bei.2,p.E408K	protein_coding, processed_transcript, nonsense_mediated_decay	uc004bei.2	nonsynonymous SNV	exon8	c.G1222A	p.E408K	APGVGWENVLLKEGESASNATETSG	APGVGWENVLLKKGESASNATETSG	7.0	9.0	unscreened	-	1913_9:112778263-112778263 G>A_APGVGWENVLLKKGESASNATETSG
5:150277716-150277716 G>A	0.0	1913	MELANOMA	-	-	-	-	ZNF300	uc021yfz.1,p.S22F|NM_052860,p.S58F|ENST00000446148,p.S74F|ENST00000418587,p.S22F|uc021yfy.1,p.S58F|NM_001172832,p.S22F|NM_001172831,p.S74F|ENST00000394226,p.S58F|ENST00000274599,p.S58F|uc021yfx.1,p.S74F|ENST00000427179,p.S58F	protein_coding	uc021yfz.1	nonsynonymous SNV	exon4	c.C65T	p.S22F	SMGYPVSKPDVISKLEQGEEPWIIK	SMGYPVSKPDVIFKLEQGEEPWIIK	1.0	7.0	unscreened	-	1913_5:150277716-150277716 G>A_SMGYPVSKPDVIFKLEQGEEPWIIK
3:62522205-62522205 G>A	0.0	1913	MELANOMA	-	-	-	-	CADPS	ENST00000542833,p.P172L|uc003dll.2,p.P673L|uc021wzv.1,p.P673L|NM_003716,p.P673L|uc003dlm.2,p.P673L|NM_183394,p.P673L|ENST00000283269,p.P673L|uc003dlk.1,p.P177L|ENST00000383710,p.P673L	retained_intron, protein_coding, processed_transcript	uc021wzv.1	nonsynonymous SNV	exon12	c.C2018T	p.P673L	QKHGMDEFISSNPCNFDHASLFEMV	QKHGMDEFISSNLCNFDHASLFEMV	1.0	2.0	unscreened	-	1913_3:62522205-62522205 G>A_QKHGMDEFISSNLCNFDHASLFEMV
3:62522205-62522205 G>A	0.0	1913	MELANOMA	-	-	-	-	CADPS	NM_183393,p.P673L|uc003dln.2,p.P673L|ENST00000357948,p.P673L	retained_intron, protein_coding, processed_transcript	uc003dln.2	nonsynonymous SNV	exon12	c.C2018T	p.P673L	QKHGMDEFISSNPCNFDHASLFEMG	QKHGMDEFISSNLCNFDHASLFEMG	1.0	2.0	unscreened	-	1913_3:62522205-62522205 G>A_QKHGMDEFISSNLCNFDHASLFEMG
1:18554443-18554443 C>T	0.0	1913	MELANOMA	-	-	-	-	IGSF21	NM_032880,p.A41V|uc001bau.2,p.A41V|ENST00000251296,p.A41V	retained_intron, protein_coding, processed_transcript	uc001bau.2	nonsynonymous SNV	exon2	c.C122T	p.A41V	NIEPLPPVVAGDAVTLKCNFKTDGR	NIEPLPPVVAGDVVTLKCNFKTDGR	1.0	3.0	unscreened	-	1913_1:18554443-18554443 C>T_NIEPLPPVVAGDVVTLKCNFKTDGR
4:98902310-98902310 C>T	0.0	1913	MELANOMA	-	-	-	-	STPG2	NM_174952,p.G258S|ENST00000295268,p.G258S|uc003htt.2,p.G258S	protein_coding, processed_transcript	uc003htt.2	nonsynonymous SNV	exon6	c.G772A	p.G258S	RFTQDIRTEEMPGPGFYNVLNNTII	RFTQDIRTEEMPSPGFYNVLNNTII	1.0	9.0	unscreened	-	1913_4:98902310-98902310 C>T_RFTQDIRTEEMPSPGFYNVLNNTII
12:21457486-21457486 G>A	0.0	1913	MELANOMA	-	-	-	-	SLCO1A2	uc001res.3,p.S155L|ENST00000458504,p.S23L|ENST00000390670,p.S153L|uc010sio.2,p.S23L|NM_134431,p.S155L|uc010siq.2,p.S23L|ENST00000307378,p.S155L|uc001reu.2,p.S135L|uc001rer.3,p.S155L|uc010sip.2,p.S23L|NM_021094,p.S155L|uc001ret.3,p.S153L|ENST00000452078,p.S155L|ENST00000537524,p.S23L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010siq.2	nonsynonymous SNV	exon5	c.C68T	p.S23L	TQDPSECTKEVKSLMWVYVLVGNIV	TQDPSECTKEVKLLMWVYVLVGNIV	1.0	8.0	unscreened	-	1913_12:21457486-21457486 G>A_TQDPSECTKEVKLLMWVYVLVGNIV
8:30701840-30701840 G>A	0.0	1913	MELANOMA	-	-	-	-	TEX15	NM_031271,p.S1565F|ENST00000256246,p.S1565F|uc003xil.3,p.S1565F	protein_coding, processed_transcript	uc003xil.3	nonsynonymous SNV	exon1	c.C4694T	p.S1565F	SDLTLHSEIAYISKPGILGVNHTPI	SDLTLHSEIAYIFKPGILGVNHTPI	1.0	6.0	unscreened	-	1913_8:30701840-30701840 G>A_SDLTLHSEIAYIFKPGILGVNHTPI
11:130060574-130060574 C>T	0.0	1913	MELANOMA	-	-	-	-	ST14	uc010sca.1,p.P97L|ENST00000278742,p.P287L|uc001qfw.3,p.P287L|NM_021978,p.P287L	retained_intron, protein_coding	uc010sca.1	nonsynonymous SNV	exon2	c.C290T	p.P97L	LVTVYNTLSPMEPHALVQLCGTYPP	LVTVYNTLSPMELHALVQLCGTYPP	1.0	9.0	unscreened	-	1913_11:130060574-130060574 C>T_LVTVYNTLSPMELHALVQLCGTYPP
11:55136168-55136168 C>T	0.0	1913	MELANOMA	-	-	-	-	OR4A15	uc010rif.2,p.S270F|NM_001005275,p.S270F|ENST00000314706,p.S270F	protein_coding	uc010rif.2	nonsynonymous SNV	exon1	c.C809T	p.S270F	LEGKRKAFYTCASHVTVVILFFVPC	LEGKRKAFYTCAFHVTVVILFFVPC	1.0	3.0	unscreened	-	1913_11:55136168-55136168 C>T_LEGKRKAFYTCAFHVTVVILFFVPC
6:53787506-53787506 G>A	1.0	1913	MELANOMA	-	-	-	-	LRRC1	NM_018214,p.R497Q|uc003pcd.1,p.R497Q|ENST00000370888,p.R497Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc003pcd.1	nonsynonymous SNV	exon14	c.G1490A	p.R497Q	ELKHMKKTVENLRNDMNAAKGLDSN	ELKHMKKTVENLQNDMNAAKGLDSN	6.0	2.0	unscreened	-	1913_6:53787506-53787506 G>A_ELKHMKKTVENLQNDMNAAKGLDSN
6:49604509-49604509 G>A	0.0	1913	MELANOMA	-	-	-	-	RHAG	uc010jzm.3,p.P6L|uc003ozk.4,p.P6L|uc010jzl.3,p.P6L|ENST00000229810,p.P6L|ENST00000371175,p.P6L|NM_000324,p.P6L	protein_coding	uc010jzm.3	nonsynonymous SNV	exon1	c.C17T	p.P6L	MRFTFPLMAIVLEIAMIV	MRFTFLLMAIVLEIAMIV	1.0	2.0	unscreened	-	1913_6:49604509-49604509 G>A_MRFTFLLMAIVLEIAMIV
11:124266410-124266410 C>T	0.0	1913	MELANOMA	-	-	-	-	OR8B3	NM_001005467,p.V280M|uc010saj.2,p.V280M|ENST00000354597,p.V280M	protein_coding	uc010saj.2	nonsynonymous SNV	exon1	c.G838A	p.V280M	EQGKVSSVFYTNVVPMLNPLIYSLR	EQGKVSSVFYTNMVPMLNPLIYSLR	1.0	9.0	unscreened	-	1913_11:124266410-124266410 C>T_EQGKVSSVFYTNMVPMLNPLIYSLR
11:62295752-62295752 A>G	1.0	1913	MELANOMA	-	-	-	-	AHNAK	ENST00000378024,p.L2046P|NM_001620,p.L2046P|uc001ntl.3,p.L2046P	protein_coding, processed_transcript	uc001ntl.3	nonsynonymous SNV	exon5	c.T6137C	p.L2046P	APDVDVHGPDWHLKMPKMKMPKFSM	APDVDVHGPDWHPKMPKMKMPKFSM	9.0	8.0	unscreened	-	1913_11:62295752-62295752 A>G_APDVDVHGPDWHPKMPKMKMPKFSM
X:32472796-32472796 C>T	0.0	1913	MELANOMA	-	-	-	-	DMD	NM_000109,p.A1188T|ENST00000357033,p.A1196T|NM_004010,p.A1073T|NM_004006,p.A1196T|uc004dda.1,p.A1196T|ENST00000378677,p.A1192T|uc004dcy.1,p.A1192T|uc004dcz.2,p.A1073T|uc004ddb.1,p.A1188T|NM_004009,p.A1192T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004ddb.1	nonsynonymous SNV	exon26	c.G3562A	p.A1188T	DFEYKTPDELQKAVEEMKRAKEEAQ	DFEYKTPDELQKTVEEMKRAKEEAQ	9.0	9.0	unscreened	-	1913_X:32472796-32472796 C>T_DFEYKTPDELQKTVEEMKRAKEEAQ
5:151784259-151784259 G>A	0.0	1913	MELANOMA	-	-	-	-	NMUR2	ENST00000255262,p.T139I|NM_020167,p.T139I|uc003luv.2,p.T139I	protein_coding, processed_transcript	uc003luv.2	nonsynonymous SNV	exon1	c.C416T	p.T139I	ETVCFASILSITTVSVERYVAILHP	ETVCFASILSITIVSVERYVAILHP	1.0	9.0	unscreened	-	1913_5:151784259-151784259 G>A_ETVCFASILSITIVSVERYVAILHP
5:161116303-161116303 C>T	0.0	1913	MELANOMA	-	-	-	-	GABRA6	ENST00000517823,p.P111S|NM_000811,p.P164S|ENST00000523691,p.P59S|uc003lyu.2,p.P164S|ENST00000274545,p.P164S|ENST00000523217,p.P154S	retained_intron, protein_coding, processed_transcript	uc003lyu.2	nonsynonymous SNV	exon5	c.C490T	p.P164S	INADCPMRLVNFPMDGHACPLKFGS	INADCPMRLVNFSMDGHACPLKFGS	1.0	2.0	unscreened	-	1913_5:161116303-161116303 C>T_INADCPMRLVNFSMDGHACPLKFGS
5:149265934-149265934 C>T	0.0	1913	MELANOMA	-	-	-	-	PDE6A	NM_000440,p.G578R|ENST00000255266,p.G578R|uc021yfs.1,p.G497R|uc003lrg.4,p.G578R	retained_intron, protein_coding	uc021yfs.1	nonsynonymous SNV	exon12	c.G1489A	p.G497R	NVGQTMFSLLVTGKLKRYFTDLEAL	NVGQTMFSLLVTRKLKRYFTDLEAL	1.0	8.0	unscreened	-	1913_5:149265934-149265934 C>T_NVGQTMFSLLVTRKLKRYFTDLEAL
10:95399935-95399935 G>A	0.0	1913	MELANOMA	-	-	-	-	PDE6C	ENST00000371447,p.E531K|uc001kiu.4,p.E531K|NM_006204,p.E531K	protein_coding, processed_transcript	uc001kiu.4	nonsynonymous SNV	exon12	c.G1591A	p.E531K	HGLIKCGIRLFFEINVVEKFKVPVE	HGLIKCGIRLFFKINVVEKFKVPVE	1.0	6.0	unscreened	-	1913_10:95399935-95399935 G>A_HGLIKCGIRLFFKINVVEKFKVPVE
2:179593816-179593816 C>T	0.0	1913	MELANOMA	-	-	-	-	TTN	ENST00000591111,p.G6000S|ENST00000589042,p.G6317S|uc031rqc.1,p.G6317S|NM_001267550,p.G6317S|ENST00000342992,p.G5073S|uc002umz.1,p.G1734S|uc021vsy.2,p.G5073S|NM_001256850,p.G6000S|NM_133378,p.G5073S|uc031rqd.1,p.G6000S	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon63	c.G17998A	p.G6000S	LKSSATFQSTVAGSPPISITWLKDD	LKSSATFQSTVASSPPISITWLKDD	2.0	6.0	unscreened	-	1913_2:179593816-179593816 C>T_LKSSATFQSTVASSPPISITWLKDD
11:6913679-6913679 G>A	0.0	1913	MELANOMA	-	-	-	-	OR2D2	ENST00000299459,p.S18F|uc010rau.2,p.S18F|NM_003700,p.S18F	protein_coding	uc010rau.2	nonsynonymous SNV	exon1	c.C53T	p.S18F	QTQVTEFLLLGLSDGPHTEQLLFIV	QTQVTEFLLLGLFDGPHTEQLLFIV	1.0	8.0	unscreened	-	1913_11:6913679-6913679 G>A_QTQVTEFLLLGLFDGPHTEQLLFIV
2:163291960-163291960 A>T	0.0	1913	MELANOMA	-	-	-	-	KCNH7	NM_173162,p.C561S|ENST00000332142,p.C568S|uc002uch.2,p.C568S|ENST00000328032,p.C561S|uc002uci.3,p.C561S|NM_033272,p.C568S	protein_coding, processed_transcript	uc002uci.3	nonsynonymous SNV	exon7	c.T1681A	p.C561S	MCIFALIAHWLACIWYAIGNVERPY	MCIFALIAHWLASIWYAIGNVERPY	1.0	5.0	unscreened	-	1913_2:163291960-163291960 A>T_MCIFALIAHWLASIWYAIGNVERPY
12:99640612-99640612 G>A	0.0	1913	MELANOMA	-	-	-	-	ANKS1B	NM_152788,p.P596L|ENST00000547010,p.P176L|uc001tgf.2,p.P176L|ENST00000329257,p.P596L|ENST00000547776,p.P596L|uc009ztt.1,p.P562L|uc001tge.2,p.P596L	protein_coding, processed_transcript, nonsense_mediated_decay	uc009ztt.1	nonsynonymous SNV	exon12	c.C1685T	p.P562L	HTDDLSRQDDNDPPKEYDPGQFAGL	HTDDLSRQDDNDLPKEYDPGQFAGL	10.0	7.0	unscreened	-	1913_12:99640612-99640612 G>A_HTDDLSRQDDNDLPKEYDPGQFAGL
19:39281472-39281472 C>T	0.0	1913	MELANOMA	-	-	-	-	LGALS7B	NM_001042507,p.P80L|ENST00000314980,p.P80L|uc002ojf.4,p.P80L	retained_intron, protein_coding	uc002ojf.4	nonsynonymous SNV	exon3	c.C239T	p.P80L	GSWGREERGPGVPFQRGQPFEVLII	GSWGREERGPGVLFQRGQPFEVLII	1.0	1.0	unscreened	-	1913_19:39281472-39281472 C>T_GSWGREERGPGVLFQRGQPFEVLII
15:62199528-62199528 G>A	1.0	1913	MELANOMA	-	-	-	-	VPS13C	ENST00000395898,p.P2971S|uc002ahb.2,p.P3014S|uc002aha.3,p.P2971S|NM_020821,p.P3014S|uc002agz.3,p.P3014S|NM_017684,p.P2971S|uc002ahc.2,p.P2971S|uc002ahd.1,p.P391S|ENST00000261517,p.P3014S|ENST00000249837,p.P2971S|ENST00000395896,p.P3014S|NM_018080,p.P2971S|NM_001018088,p.P3014S	retained_intron, protein_coding, processed_transcript	uc002ahd.1	nonsynonymous SNV	exon7	c.C1171T	p.P391S	LPRQARLFAWADPTGTRKLTWTYAA	LPRQARLFAWADSTGTRKLTWTYAA	8.0	9.0	unscreened	-	1913_15:62199528-62199528 G>A_LPRQARLFAWADSTGTRKLTWTYAA
X:91134144-91134144 G>A	0.0	1913	MELANOMA	-	-	-	-	PCDH11X	ENST00000406881,p.D969N|uc004efo.2,p.D969N|NM_001168363,p.D969N|uc004efj.1,p.D969N|uc004efm.2,p.D969N|ENST00000373094,p.D969N|ENST00000298274,p.D969N|uc004efl.2,p.D969N|uc004efh.2,p.D969N|ENST00000361724,p.D969N|uc010nmv.2,p.D969N|ENST00000395337,p.D969N|ENST00000361655,p.D969N|ENST00000373088,p.D969N|NM_001168362,p.D969N|uc004efk.2,p.D969N|ENST00000373097,p.D969N|NM_032968,p.D969N|NM_001168360,p.D969N|NM_001168361,p.D969N|ENST00000504220,p.D969N|NM_032969,p.D969N|uc004efn.2,p.D969N	protein_coding	uc010nmv.2	nonsynonymous SNV	exon2	c.G2905A	p.D969N	NSKHHIIQELPLDNTFVACDSISKC	NSKHHIIQELPLNNTFVACDSISKC	1.0	9.0	unscreened	-	1913_X:91134144-91134144 G>A_NSKHHIIQELPLNNTFVACDSISKC
X:151393274-151393274 G>A	0.0	1913	MELANOMA	-	-	-	-	GABRA3	ENST00000535043,p.P199S|ENST00000370314,p.P199S|ENST00000370311,p.P199S|uc010ntk.1,p.P199S|NM_000808,p.P199S	protein_coding, processed_transcript	uc010ntk.1	nonsynonymous SNV	exon6	c.C595T	p.P199S	IHAECPMHLEDFPMDVHACPLKFGS	IHAECPMHLEDFSMDVHACPLKFGS	1.0	9.0	unscreened	-	1913_X:151393274-151393274 G>A_IHAECPMHLEDFSMDVHACPLKFGS
12:7982435-7982435 G>A	0.0	1913	MELANOMA	-	-	-	-	SLC2A14	uc001qtk.3,p.S170L|uc001qtl.3,p.S147L|uc001qtm.3,p.S147L|NM_001286236,p.S61L|ENST00000431042,p.S147L|ENST00000546234,p.S147L|ENST00000340749,p.S147L|ENST00000542546,p.S61L|uc010sgh.2,p.S185L|ENST00000535295,p.S61L|uc001qtn.3,p.S170L|ENST00000543909,p.S170L|uc010sgg.2,p.S61L|NM_001286235,p.S147L|NM_001286234,p.S147L|ENST00000539924,p.S185L|NM_001286237,p.S185L|ENST00000396589,p.S170L|NM_153449,p.S170L|NM_001286233,p.S170L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sgh.2	nonsynonymous SNV	exon4	c.C554T	p.S185L	CTGFVPMYIGEISPTALRGAFGTLN	CTGFVPMYIGEILPTALRGAFGTLN	4.0	8.0	unscreened	-	1913_12:7982435-7982435 G>A_CTGFVPMYIGEILPTALRGAFGTLN
3:45814002-45814002 G>A	0.0	1913	MELANOMA	-	-	-	-	SLC6A20	ENST00000456124,p.P230S|uc011bai.2,p.P230S|ENST00000413781,p.P183S|NM_020208,p.P230S|ENST00000358525,p.P230S	retained_intron, protein_coding, processed_transcript	uc011bai.2	nonsynonymous SNV	exon5	c.C688T	p.P230S	HGATNGLMYMFTPKIEQLANPKAWI	HGATNGLMYMFTSKIEQLANPKAWI	1.0	8.0	unscreened	-	1913_3:45814002-45814002 G>A_HGATNGLMYMFTSKIEQLANPKAWI
12:88381673-88381673 A>C	0.0	1913	MELANOMA	-	-	-	-	C12orf50	NM_152589,p.N257K|uc001tam.1,p.N257K|ENST00000298699,p.N257K	protein_coding, processed_transcript	uc001tam.1	nonsynonymous SNV	exon9	c.T771G	p.N257K	LTTRLVPTTHVLNATENISMKCRED	LTTRLVPTTHVLKATENISMKCRED	1.0	1.0	unscreened	-	1913_12:88381673-88381673 A>C_LTTRLVPTTHVLKATENISMKCRED
3:52324695-52324695 C>T	0.0	1913	MELANOMA	-	-	-	-	GLYCTK	uc003ddq.2,p.P113S|uc003ddp.1,p.P113S|ENST00000354773,p.P113S|ENST00000477382,p.P113S|NM_145262,p.P113S|ENST00000305690,p.P113S|ENST00000473032,p.P113S|NM_001144951,p.P113S|ENST00000486393,p.P113S|ENST00000436784,p.P113S|uc003ddo.3,p.P113S	retained_intron, protein_coding, nonsense_mediated_decay	uc003ddq.2	nonsynonymous SNV	exon2	c.C337T	p.P113S	LGQHLVQGVISVPKGIRAAMERAGK	LGQHLVQGVISVSKGIRAAMERAGK	5.0	1.0	unscreened	-	1913_3:52324695-52324695 C>T_LGQHLVQGVISVSKGIRAAMERAGK
5:66481731-66481731 G>A	0.0	1913	MELANOMA	-	-	-	-	CD180	NM_005582,p.H69Y|uc003juy.2,p.H69Y|ENST00000256447,p.H69Y	retained_intron, protein_coding	uc003juy.2	nonsynonymous SNV	exon2	c.C205T	p.H69Y	FLEFSFNFLPTIHNRTFSRLMNLTF	FLEFSFNFLPTIYNRTFSRLMNLTF	1.0	6.0	unscreened	-	1913_5:66481731-66481731 G>A_FLEFSFNFLPTIYNRTFSRLMNLTF
5:131298350-131298350 C>T	0.0	1913	MELANOMA	-	-	-	2	ACSL6	uc003kwb.3,p.D544N|uc021ydh.1,p.D479N|NM_001205248,p.D554N|ENST00000544770,p.D463N|uc010jdn.2,p.D569N|uc010jdo.2,p.D554N|NM_015256,p.D579N|ENST00000379240,p.D554N|ENST00000379272,p.D569N|ENST00000379255,p.D479N|ENST00000296869,p.D579N|NM_001205250,p.D565N|uc003kvz.2,p.D479N|uc003kvy.2,p.D579N|ENST00000379244,p.D554N|ENST00000413683,p.D554N|NM_001009185,p.D579N|uc003kvw.2,p.D200N|ENST00000543479,p.D554N|ENST00000379264,p.D579N|uc003kwa.2,p.D565N|ENST00000379246,p.D565N|ENST00000379249,p.D554N|uc003kvx.2,p.D579N|ENST00000431707,p.D534N|NM_001205247,p.D544N|NM_001205251,p.D479N|ENST00000357096,p.D479N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ydh.1	nonsynonymous SNV	exon17	c.G1435A	p.D479N	GKWLPAGTLKIIDRKKHIFKLAQGE	GKWLPAGTLKIINRKKHIFKLAQGE	1.0	2.0	unscreened	-	1913_5:131298350-131298350 C>T_GKWLPAGTLKIINRKKHIFKLAQGE
1:203455959-203455959 C>T	1.0	1913	MELANOMA	-	-	-	-	PRELP	uc001gzt.3,p.P367S|NM_201348,p.P367S|uc001gzs.3,p.P367S|ENST00000343110,p.P367S|NM_002725,p.P367S	protein_coding	uc001gzt.3	nonsynonymous SNV	exon3	c.C1099T	p.P367S	LRLDGNYLKPPIPLDLMMCFRLLQS	LRLDGNYLKPPISLDLMMCFRLLQS	4.0	6.0	unscreened	-	1913_1:203455959-203455959 C>T_LRLDGNYLKPPISLDLMMCFRLLQS
6:29080287-29080287 C>T	0.0	1913	MELANOMA	-	-	-	-	OR2J3	uc011dll.2,p.S207F|ENST00000377169,p.S207F|NM_001005216,p.S207F	protein_coding	uc011dll.2	nonsynonymous SNV	exon1	c.C620T	p.S207F	THVNELTLMITSSIFVLIPLILILT	THVNELTLMITSFIFVLIPLILILT	1.0	7.0	unscreened	-	1913_6:29080287-29080287 C>T_THVNELTLMITSFIFVLIPLILILT
15:79059840-79059840 C>T	1.0	1913	MELANOMA	-	-	-	-	ADAMTS7	ENST00000388820,p.D914N|uc002bej.4,p.D914N|NM_014272,p.D914N	retained_intron, protein_coding, processed_transcript	uc002bej.4	nonsynonymous SNV	exon18	c.G2740A	p.D914N	RRAVLCIRSVGLDEQSALEPPACEH	RRAVLCIRSVGLNEQSALEPPACEH	6.0	9.0	unscreened	-	1913_15:79059840-79059840 C>T_RRAVLCIRSVGLNEQSALEPPACEH
4:114284553-114284553 C>T	1.0	1913	MELANOMA	-	-	-	-	ANK2	ENST00000357077,p.P3606S|uc003ibf.4,p.P1521S|uc003ibh.4,p.P195S|NM_001127493,p.P1512S|ENST00000264366,p.P3573S|uc003ibg.4,p.P505S|ENST00000505342,p.P616S|uc003ibd.4,p.P1512S|uc003ibe.4,p.P3606S|NM_020977,p.P1521S|NM_001148,p.P3606S|ENST00000510275,p.P173S|uc011cgc.2,p.P697S|ENST00000506722,p.P1512S|ENST00000394537,p.P1521S|ENST00000509550,p.P697S	retained_intron, protein_coding, processed_transcript	uc011cgc.2	nonsynonymous SNV	exon18	c.C2089T	p.P697S	TEEQIHQIRIENPNSLQDQSHALLK	TEEQIHQIRIENSNSLQDQSHALLK	6.0	9.0	unscreened	-	1913_4:114284553-114284553 C>T_TEEQIHQIRIENSNSLQDQSHALLK
1:157665275-157665275 G>A	0.0	1913	MELANOMA	-	-	-	-	FCRL3	uc001fqz.4,p.H419Y|ENST00000368186,p.H419Y|uc001frc.1,p.H419Y|ENST00000492769,p.H425Y|NM_052939,p.H419Y|ENST00000368184,p.H419Y|uc001frb.3,p.H419Y|uc001fra.3,p.H145Y|ENST00000477837,p.H324Y|ENST00000485028,p.H419Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc001frc.1	nonsynonymous SNV	exon8	c.C1255T	p.H419Y	LRGSPPILYRFYHEDVTLGNSSAPS	LRGSPPILYRFYYEDVTLGNSSAPS	1.0	9.0	unscreened	-	1913_1:157665275-157665275 G>A_LRGSPPILYRFYYEDVTLGNSSAPS
8:68992794-68992794 G>A	0.0	1913	MELANOMA	-	-	-	1	PREX2	uc011lez.1,p.E522K|uc003xxv.1,p.E587K|NM_025170,p.E587K|ENST00000288368,p.E587K|NM_024870,p.E587K|uc003xxu.1,p.E587K	protein_coding, processed_transcript	uc011lez.1	nonsynonymous SNV	exon14	c.G1564A	p.E522K	KHRLMKHDLKVVENVIAKSLLIKSN	KHRLMKHDLKVVKNVIAKSLLIKSN	1.0	8.0	unscreened	-	1913_8:68992794-68992794 G>A_KHRLMKHDLKVVKNVIAKSLLIKSN
20:29978265-29978265 G>A	0.0	1913	MELANOMA	-	-	-	-	DEFB119	uc002wvt.4,p.L8F|NM_153323,p.L8F|uc031rsq.1,p.L8F|uc002wvu.2,p.L8F|NM_001271209,p.L8F|ENST00000376315,p.L8F|ENST00000339144,p.L8F|ENST00000376321,p.L8F|NM_153289,p.L8F	protein_coding, processed_transcript	uc031rsq.1	nonsynonymous SNV	exon1	c.C22T	p.L8F	MKLLYLFLAILLAIEEPVIS	MKLLYLFFAILLAIEEPVIS	1.0	5.0	unscreened	-	1913_20:29978265-29978265 G>A_MKLLYLFFAILLAIEEPVIS
3:100447693-100447693 C>T	1.0	1913	MELANOMA	-	-	-	1	TFG	uc003due.3,p.P136S|ENST00000476228,p.P136S|uc031sav.1,p.P136S|NM_006070,p.P136S|NM_001195478,p.P136S|ENST00000463568,p.P136S|ENST00000487505,p.P136S|NM_001195479,p.P136S|NM_001007565,p.P136S|ENST00000418917,p.P136S|uc003duf.3,p.P136S|uc003dui.3,p.P136S|uc031sau.1,p.P136S|ENST00000490574,p.P136S|ENST00000240851,p.P136S|uc003dug.3,p.P136S	protein_coding, processed_transcript	uc031sav.1	nonsynonymous SNV	exon3	c.C406T	p.P136S	EPPGEPGPSTNIPENDTVDGREEKS	EPPGEPGPSTNISENDTVDGREEKS	10.0	9.0	unscreened	-	1913_3:100447693-100447693 C>T_EPPGEPGPSTNISENDTVDGREEKS
7:1588166-1588166 G>A	0.0	1913	MELANOMA	-	-	-	-	TMEM184A	uc003skv.4,p.S268L|uc021zyr.1,p.S73L|uc003skt.4,p.S247L|ENST00000297477,p.S268L|NM_001097620,p.S268L	retained_intron, protein_coding, nonsense_mediated_decay	uc021zyr.1	nonsynonymous SNV	exon5	c.C218T	p.S73L	LKFLTIKAVIFLSFWQGLLLAILER	LKFLTIKAVIFLLFWQGLLLAILER	1.0	4.0	unscreened	-	1913_7:1588166-1588166 G>A_LKFLTIKAVIFLLFWQGLLLAILER
4:175897079-175897079 G>A	0.0	1913	MELANOMA	-	-	-	-	ADAM29	NM_001130705,p.E135K|uc031shu.1,p.E135K|uc003iuc.3,p.E135K|NM_014269,p.E135K|ENST00000404450,p.E135K|ENST00000359240,p.E135K|uc010irr.3,p.E135K|NM_001130703,p.E135K|uc031shv.1,p.E135K|NM_001130704,p.E135K|ENST00000514159,p.E135K|uc003iud.3,p.E135K|NM_001278127,p.E135K|NM_001278126,p.E135K|NM_001278125,p.E135K|ENST00000445694,p.E135K|uc021xuo.1,p.E135K|uc011cki.2,p.E135K|uc031shw.1,p.E135K	retained_intron, protein_coding, processed_transcript	uc031shw.1	nonsynonymous SNV	exon2	c.G403A	p.E135K	FQGILQINDFAYEIKPLAFSTTFEH	FQGILQINDFAYKIKPLAFSTTFEH	1.0	9.0	unscreened	-	1913_4:175897079-175897079 G>A_FQGILQINDFAYKIKPLAFSTTFEH
17:11584199-11584199 C>T	0.0	1913	MELANOMA	-	-	-	-	DNAH9	uc010coo.3,p.P540S|ENST00000262442,p.P1246S|ENST00000454412,p.P1246S|NM_001372,p.P1246S|uc002gne.3,p.P1246S	retained_intron, protein_coding, processed_transcript	uc010coo.3	nonsynonymous SNV	exon7	c.C1618T	p.P540S	QQQFWEQFHKEAPFRFDSIHPHQML	QQQFWEQFHKEASFRFDSIHPHQML	10.0	6.0	unscreened	-	1913_17:11584199-11584199 C>T_QQQFWEQFHKEASFRFDSIHPHQML
2:107049731-107049731 G>A	0.0	1913	MELANOMA	-	-	-	2	RGPD3	uc010ywi.1,p.P739L|ENST00000304514,p.P739L|ENST00000409886,p.P739L|NM_001144013,p.P739L	retained_intron, protein_coding	uc010ywi.1	nonsynonymous SNV	exon16	c.C2216T	p.P739L	DSNLSVVKKLPVPLESVKEMLKSVM	DSNLSVVKKLPVLLESVKEMLKSVM	4.0	1.0	unscreened	-	1913_2:107049731-107049731 G>A_DSNLSVVKKLPVLLESVKEMLKSVM
3:3887535-3887535 G>A	0.0	1913	MELANOMA	-	-	-	-	LRRN1	uc003bpt.4,p.E404K|uc021wsh.1,p.E404K|ENST00000319331,p.E404K|NM_020873,p.E404K	retained_intron, protein_coding, processed_transcript	uc021wsh.1	nonsynonymous SNV	exon1	c.G1210A	p.E404K	MEPLSMFCAMPPEYKGHQVKEVLIQ	MEPLSMFCAMPPKYKGHQVKEVLIQ	1.0	3.0	unscreened	-	1913_3:3887535-3887535 G>A_MEPLSMFCAMPPKYKGHQVKEVLIQ
12:7301641-7301641 C>T	1.0	1913	MELANOMA	-	-	-	-	CLSTN3	uc001qsr.3,p.P641S|NM_014718,p.P641S|uc001qss.3,p.P653S|ENST00000537408,p.P653S|ENST00000266546,p.P641S	retained_intron, protein_coding, processed_transcript	uc001qss.3	nonsynonymous SNV	exon12	c.C1957T	p.P653S	VEGYVVVLQPDAPQILLSGTAHFAR	VEGYVVVLQPDASQILLSGTAHFAR	3.0	8.0	unscreened	-	1913_12:7301641-7301641 C>T_VEGYVVVLQPDASQILLSGTAHFAR
19:16875863-16875863 C>T	0.0	1913	MELANOMA	-	-	ID=COSM226382;OCCURENCE=1(NS)	-	NWD1	ENST00000552788,p.S757F|ENST00000549814,p.S757F|uc002neu.4,p.S757F|NM_001007525,p.S757F|NM_001290355,p.S622F|uc002nev.4,p.S551F|ENST00000524140,p.S757F|ENST00000339803,p.S622F|ENST00000379808,p.S757F|uc002net.4,p.S622F|ENST00000523826,p.S551F	protein_coding, nonsense_mediated_decay	uc002nev.4	nonsynonymous SNV	exon9	c.C1652T	p.S551F	LKQEVLGSMSWISCRGISGGIEDLL	LKQEVLGSMSWIFCRGISGGIEDLL	1.0	5.0	unscreened	-	1913_19:16875863-16875863 C>T_LKQEVLGSMSWIFCRGISGGIEDLL
11:102666251-102666251 G>A	0.0	1913	MELANOMA	-	-	-	-	MMP1	ENST00000315274,p.P238L|NM_001145938,p.P172L|NM_002421,p.P238L|uc010ruv.1,p.P172L|uc001phi.2,p.P238L	protein_coding	uc010ruv.1	nonsynonymous SNV	exon5	c.C515T	p.P172L	LSHSTDIGALMYPSYTFSGDVQLAQ	LSHSTDIGALMYLSYTFSGDVQLAQ	2.0	2.0	unscreened	-	1913_11:102666251-102666251 G>A_LSHSTDIGALMYLSYTFSGDVQLAQ
12:9307300-9307300 G>A	0.0	1913	MELANOMA	-	-	-	-	PZP	ENST00000381997,p.P1015L|uc009zgl.3,p.P1015L|uc001qvl.3,p.P1229L|NM_002864,p.P1229L|ENST00000261336,p.P1229L	protein_coding, processed_transcript, nonsense_mediated_decay	uc009zgl.3	nonsynonymous SNV	exon26	c.C3044T	p.P1015L	YVLLAYLTAQPAPTSGDLTSATNIV	YVLLAYLTAQPALTSGDLTSATNIV	2.0	9.0	unscreened	-	1913_12:9307300-9307300 G>A_YVLLAYLTAQPALTSGDLTSATNIV
17:11648339-11648339 G>A	0.0	1913	MELANOMA	-	-	-	-	DNAH9	NM_001372,p.A2113T|ENST00000262442,p.A2113T|uc002gne.3,p.A2113T|ENST00000454412,p.A2113T|uc010coo.3,p.A1407T	retained_intron, protein_coding, processed_transcript	uc010coo.3	nonsynonymous SNV	exon19	c.G4219A	p.A1407T	LDVPRRRDPNFEALVRKAIVDLKLQ	LDVPRRRDPNFETLVRKAIVDLKLQ	10.0	6.0	unscreened	-	1913_17:11648339-11648339 G>A_LDVPRRRDPNFETLVRKAIVDLKLQ
19:45593521-45593521 C>T	1.0	1913	MELANOMA	-	-	-	-	GEMIN7	ENST00000391951,p.S50F|uc021uvr.1,p.S50F|NM_024707,p.S50F|ENST00000591607,p.S50F|uc002pap.1,p.S50F|NM_001007270,p.S50F|uc002par.1,p.S50F|uc002paq.1,p.S50F|NM_001007269,p.S50F|ENST00000591747,p.S50F|ENST00000270257,p.S50F	protein_coding, processed_transcript	uc021uvr.1	nonsynonymous SNV	exon1	c.C149T	p.S50F	VPEIQECPIAQESLESQEQRARAAL	VPEIQECPIAQEFLESQEQRARAAL	8.0	8.0	unscreened	-	1913_19:45593521-45593521 C>T_VPEIQECPIAQEFLESQEQRARAAL
12:93196431-93196431 C>T	1.0	1913	MELANOMA	-	-	-	-	EEA1	NM_003566,p.E807K|uc001tck.3,p.E807K	protein_coding, processed_transcript, nonsense_mediated_decay	uc001tck.3	nonsynonymous SNV	exon19	c.G2419A	p.E807K	LESIKQKLTKQEEEKQILKQDFETL	LESIKQKLTKQEKEKQILKQDFETL	6.0	7.0	unscreened	-	1913_12:93196431-93196431 C>T_LESIKQKLTKQEKEKQILKQDFETL
16:7629873-7629873 C>T	0.0	1913	MELANOMA	-	-	-	-	RBFOX1	uc002cys.2,p.S122F|uc002cyy.2,p.S142F|NM_145892,p.S142F|uc002cyx.2,p.S142F|ENST00000553186,p.S122F|NM_018723,p.S122F|ENST00000436368,p.S142F|ENST00000552089,p.S157F|ENST00000340209,p.S127F|uc010uxz.1,p.S165F|ENST00000547338,p.S122F|uc010buf.1,p.S122F|ENST00000550418,p.S122F|ENST00000547372,p.S165F|ENST00000422070,p.S165F|ENST00000551752,p.S122F|NM_145893,p.S142F|NM_001142334,p.S122F|uc010uyb.1,p.S122F|NM_001142333,p.S122F|uc002cyt.2,p.S122F|ENST00000570626,p.S124F|uc010uyc.1,p.S142F|uc002cyr.1,p.S121F|ENST00000355637,p.S142F|uc002cyw.2,p.S142F|ENST00000311745,p.S142F|uc002cyv.1,p.S122F|ENST00000547605,p.S121F|NM_145891,p.S142F	retained_intron, protein_coding, processed_transcript	uc010uyc.1	nonsynonymous SNV	exon3	c.C425T	p.S142F	TENKSQPKRLHVSNIPFRFRDPDLR	TENKSQPKRLHVFNIPFRFRDPDLR	1.0	9.0	unscreened	-	1913_16:7629873-7629873 C>T_TENKSQPKRLHVFNIPFRFRDPDLR
10:115335674-115335674 C>T	0.0	1913	MELANOMA	-	-	-	-	HABP2	ENST00000537906,p.P70S|uc010qry.1,p.P70S	protein_coding, processed_transcript	uc010qry.1	nonsynonymous SNV	exon5	c.C208T	p.P70S	TLRTKLIHASPTPVNTVGTASSMGA	TLRTKLIHASPTSVNTVGTASSMGA	1.0	4.0	unscreened	-	1913_10:115335674-115335674 C>T_TLRTKLIHASPTSVNTVGTASSMGA
1:175362950-175362950 G>A	0.0	1913	MELANOMA	-	-	-	-	TNR	NM_003285,p.S441F|uc001gkp.1,p.S441F|ENST00000367674,p.S441F|uc009wwu.1,p.S441F|ENST00000263525,p.S441F	protein_coding	uc009wwu.1	nonsynonymous SNV	exon6	c.C1322T	p.S441F	TTVEVQWEPFSFSFDGWEISFIPKN	TTVEVQWEPFSFFFDGWEISFIPKN	1.0	8.0	unscreened	-	1913_1:175362950-175362950 G>A_TTVEVQWEPFSFFFDGWEISFIPKN
3:1189709-1189709 A>T	0.0	1913	MELANOMA	-	-	-	-	CNTN6	uc003bpa.3,p.K6I|uc003boz.3,p.K6I|ENST00000446702,p.K6I|ENST00000350110,p.K6I|NM_001289080,p.K6I|NM_014461,p.K6I	retained_intron, protein_coding, nonsense_mediated_decay	uc003bpa.3	nonsynonymous SNV	exon2	c.A17T	p.K6I	MRLLWKLVILLPLINSSA	MRLLWILVILLPLINSSA	1.0	9.0	unscreened	-	1913_3:1189709-1189709 A>T_MRLLWILVILLPLINSSA
5:161281267-161281267 G>A	0.0	1913	MELANOMA	-	-	-	-	GABRA1	NM_001127643,p.G60R|ENST00000444819,p.G60R|NM_001127644,p.G60R|ENST00000420560,p.G60R|uc010jiy.3,p.G60R|uc010jiw.3,p.G60R|NM_001127648,p.G60R|NM_001127645,p.G60R|ENST00000393943,p.G60R|uc003lyx.4,p.G60R|uc010jix.3,p.G60R|ENST00000519621,p.G60R|uc010jjb.3,p.G60R|ENST00000522651,p.G60R|ENST00000023897,p.G60R|NM_000806,p.G60R|ENST00000428797,p.G60R|ENST00000521339,p.G66R|ENST00000437025,p.G60R	retained_intron, protein_coding	uc010jjb.3	nonsynonymous SNV	exon2	c.G178A	p.G60R	RLLDGYDNRLRPGLGERVTEVKTDI	RLLDGYDNRLRPRLGERVTEVKTDI	1.0	9.0	unscreened	-	1913_5:161281267-161281267 G>A_RLLDGYDNRLRPRLGERVTEVKTDI
1:11595630-11595630 G>A	0.0	1913	MELANOMA	-	-	-	-	PTCHD2	uc001ash.4,p.V1249M|ENST00000389575,p.V1249M|NM_020780,p.V1249M|ENST00000294484,p.V1249M	protein_coding, processed_transcript	uc001ash.4	nonsynonymous SNV	exon20	c.G3745A	p.V1249M	EAISLSILVGSSVDYCVHLVEGYLL	EAISLSILVGSSMDYCVHLVEGYLL	3.0	1.0	unscreened	-	1913_1:11595630-11595630 G>A_EAISLSILVGSSMDYCVHLVEGYLL
19:42566972-42566972 G>T	1.0	1913	MELANOMA	-	-	-	-	GRIK5	ENST00000593562,p.L94I|ENST00000262895,p.L94I|NM_001301030,p.L94I|ENST00000301218,p.L94I|uc010eib.2,p.L26I|uc002osj.2,p.L94I|NM_002088,p.L94I	retained_intron, protein_coding, nonsense_mediated_decay	uc010eib.2	nonsynonymous SNV	exon4	c.C76A	p.L26I	MCQILPKGVVSVLGPSSSPASASTV	MCQILPKGVVSVIGPSSSPASASTV	4.0	3.0	unscreened	-	1913_19:42566972-42566972 G>T_MCQILPKGVVSVIGPSSSPASASTV
X:131188737-131188737 G>A	0.0	1913	MELANOMA	-	-	-	-	STK26	ENST00000394334,p.G41R|ENST00000354719,p.G41R|uc004ewk.1,p.G41R|ENST00000481105,p.G41R|NM_001042452,p.G41R|NM_016542,p.G41R|uc011mux.1,p.G41R|uc004ewm.1,p.G41R|uc010nrj.1,p.G41R|ENST00000496850,p.G41R	protein_coding	uc011mux.1	nonsynonymous SNV	exon3	c.G121A	p.G41R	RIGKGSFGEVFKGIDNRTQQVVAIK	RIGKGSFGEVFKRIDNRTQQVVAIK	1.0	9.0	unscreened	-	1913_X:131188737-131188737 G>A_RIGKGSFGEVFKRIDNRTQQVVAIK
19:12501827-12501827 G>A	1.0	1913	MELANOMA	-	-	-	-	ZNF799	ENST00000430385,p.S462F|NM_001080821,p.S462F|uc010dyt.3,p.S462F|ENST00000419318,p.S430F	retained_intron, protein_coding	uc010dyt.3	nonsynonymous SNV	exon4	c.C1385T	p.S462F	KCKCGKAFIDFYSFQNHKTTHAGEK	KCKCGKAFIDFYFFQNHKTTHAGEK	4.0	2.0	unscreened	-	1913_19:12501827-12501827 G>A_KCKCGKAFIDFYFFQNHKTTHAGEK
3:49934978-49934978 G>A	0.0	1913	MELANOMA	-	-	-	-	MST1R	uc003cxy.4,p.S674F|NM_001244937,p.S674F|ENST00000296474,p.S674F|ENST00000411578,p.S674F|NM_002447,p.S674F|uc031rzw.1,p.S568F|uc011bdd.2,p.S674F|uc011bdc.2,p.S674F|ENST00000344206,p.S674F	retained_intron, protein_coding, nonsense_mediated_decay	uc031rzw.1	nonsynonymous SNV	exon4	c.C1703T	p.S568F	MPPGKHFRVDGTSVLRGFSFMEPVL	MPPGKHFRVDGTFVLRGFSFMEPVL	3.0	8.0	unscreened	-	1913_3:49934978-49934978 G>A_MPPGKHFRVDGTFVLRGFSFMEPVL
8:18541318-18541318 G>A	0.0	1913	MELANOMA	-	-	-	-	PSD3	ENST00000428502,p.S42F|uc003wyx.4,p.S42F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003wyx.4	nonsynonymous SNV	exon1	c.C125T	p.S42F	RRQSHRSKSMKISNSSEFSAKENKA	RRQSHRSKSMKIFNSSEFSAKENKA	6.0	6.0	unscreened	-	1913_8:18541318-18541318 G>A_RRQSHRSKSMKIFNSSEFSAKENKA
2:206166413-206166413 G>A	1.0	1913	MELANOMA	-	-	-	-	PARD3B	ENST00000406610,p.G873D|ENST00000358768,p.G811D|uc002vao.2,p.G873D|NM_152526,p.G811D|NM_057177,p.G804D|uc002var.2,p.G873D|ENST00000349953,p.G873D|ENST00000351153,p.G804D|NM_205863,p.G873D|uc002vaq.2,p.G804D|uc002vap.2,p.G811D	protein_coding, processed_transcript, nonsense_mediated_decay	uc002var.2	nonsynonymous SNV	exon18	c.G2618A	p.G873D	EDPERKIKKKGFGAMLRFGKKKEDK	EDPERKIKKKGFDAMLRFGKKKEDK	4.0	6.0	unscreened	-	1913_2:206166413-206166413 G>A_EDPERKIKKKGFDAMLRFGKKKEDK
11:118074365-118074365 G>A	0.0	1913	MELANOMA	-	-	ID=COSM259409;OCCURENCE=1(large_intestine)	-	AMICA1	ENST00000533261,p.R173C	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000533261	nonsynonymous SNV	exon5	c.C517T	p.R173C	EVKHVTKEEIVFRYYHKLRMSVEYS	EVKHVTKEEIVFCYYHKLRMSVEYS	5.0	9.0	unscreened	-	1913_11:118074365-118074365 G>A_EVKHVTKEEIVFCYYHKLRMSVEYS
1:209880344-209880344 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1689779;OCCURENCE=1(skin)	-	HSD11B1	ENST00000367028,p.H130Y|NM_181755,p.H130Y|NM_005525,p.H130Y|ENST00000261465,p.H130Y|NM_001206741,p.H130Y|ENST00000367027,p.H130Y|uc021pin.1,p.H130Y|uc001hhk.3,p.H130Y|uc001hhj.3,p.H130Y	protein_coding	uc021pin.1	nonsynonymous SNV	exon5	c.C388T	p.H130Y	LNHITNTSLNLFHDDIHHVRKSMEV	LNHITNTSLNLFYDDIHHVRKSMEV	1.0	8.0	unscreened	-	1913_1:209880344-209880344 C>T_LNHITNTSLNLFYDDIHHVRKSMEV
7:137271940-137271940 G>A	0.0	1913	MELANOMA	-	-	-	-	DGKI	ENST00000453654,p.S143F|uc003vtt.3,p.S443F|ENST00000288490,p.S443F|ENST00000424189,p.S443F|uc003vtu.3,p.S143F|NM_004717,p.S443F|ENST00000446122,p.S443F	retained_intron, protein_coding, processed_transcript	uc003vtu.3	nonsynonymous SNV	exon13	c.C428T	p.S143F	ACGGDGTVGWILSILDELQLSPQPP	ACGGDGTVGWILFILDELQLSPQPP	5.0	7.0	unscreened	-	1913_7:137271940-137271940 G>A_ACGGDGTVGWILFILDELQLSPQPP
19:55670677-55670677 G>A	1.0	1913	MELANOMA	-	-	-	-	DNAAF3	NM_001256716,p.S406L|uc002qji.2,p.S460L|uc002qjk.2,p.S406L|ENST00000391720,p.S507L|uc002qjh.2,p.S275L|uc002qjj.2,p.S507L|ENST00000527223,p.S527L|NM_001256715,p.S460L|uc002qjl.2,p.S527L|ENST00000524407,p.S460L|ENST00000455045,p.S406L|NM_001256714,p.S527L|NM_178837,p.S507L	 protein_coding, processed_transcript, nonsense_mediated_decay,retained_intron	uc002qjl.2	nonsynonymous SNV	exon12	c.C1580T	p.S527L	SETFARFCKSQESALGNTVPAVEPG	SETFARFCKSQELALGNTVPAVEPG	4.0	4.0	unscreened	-	1913_19:55670677-55670677 G>A_SETFARFCKSQELALGNTVPAVEPG
20:42089647-42089647 C>T	1.0	1913	MELANOMA	-	-	-	-	SRSF6	uc010zwg.2,p.R327C|uc002xki.3,p.R198C|ENST00000244020,p.R327C|NM_006275,p.R327C	protein_coding, nonsense_mediated_decay	uc010zwg.2	nonsynonymous SNV	exon6	c.C979T	p.R327C	VSPPPKRATSRSRSRSRSKSRSRSR	VSPPPKRATSRSCSRSRSKSRSRSR	10.0	3.0	unscreened	-	1913_20:42089647-42089647 C>T_VSPPPKRATSRSCSRSRSKSRSRSR
4:141592016-141592016 C>T	1.0	1913	MELANOMA	-	-	ID=COSM1051489,COSM1051490;OCCURENCE=1(endometrium)	-	TBC1D9	uc010ioj.3,p.R375Q|ENST00000442267,p.R375Q|NM_015130,p.R375Q	retained_intron, protein_coding	uc010ioj.3	nonsynonymous SNV	exon7	c.G1124A	p.R375Q	SSVLPSPLSISTRNRMTFLFANLKD	SSVLPSPLSISTQNRMTFLFANLKD	5.0	9.0	unscreened	-	1913_4:141592016-141592016 C>T_SSVLPSPLSISTQNRMTFLFANLKD
11:118074365-118074365 G>A	0.0	1913	MELANOMA	-	-	ID=COSM259409;OCCURENCE=1(large_intestine)	-	AMICA1	uc010rxw.1,p.R145C|ENST00000526620,p.R145C|NM_153206,p.R174C|uc001psi.2,p.R174C|uc010rxx.1,p.R184C|NM_001286571,p.R145C|NM_001098526,p.R184C|uc001psh.2,p.R145C|ENST00000526595,p.R145C|ENST00000292067,p.R174C|ENST00000356289,p.R184C|NM_001286570,p.R145C|uc001psl.1,p.R140C|uc001psk.2,p.R184C	retained_intron, protein_coding, nonsense_mediated_decay	uc010rxx.1	nonsynonymous SNV	exon6	c.C550T	p.R184C	FSGRRAKEEIVFRYYHKLRMSVEYS	FSGRRAKEEIVFCYYHKLRMSVEYS	5.0	9.0	unscreened	-	1913_11:118074365-118074365 G>A_FSGRRAKEEIVFCYYHKLRMSVEYS
19:52375976-52375976 G>A	0.0	1913	MELANOMA	-	-	-	-	ZNF577	ENST00000451628,p.P364S|ENST00000301399,p.P423S|uc002pxx.4,p.P364S|ENST00000420592,p.P364S|uc002pxv.3,p.P416S|NM_001135590,p.P364S|uc002pxw.3,p.P357S|ENST00000458390,p.P423S|uc010yde.2,p.P423S|NM_032679,p.P423S	retained_intron, protein_coding, processed_transcript	uc010yde.2	nonsynonymous SNV	exon7	c.C1267T	p.P423S	NTVPIEMPSSGTPPLLNKSERLVGR	NTVPIEMPSSGTSPLLNKSERLVGR	4.0	7.0	unscreened	-	1913_19:52375976-52375976 G>A_NTVPIEMPSSGTSPLLNKSERLVGR
9:990563-990563 C>T	0.0	1913	MELANOMA	-	-	-	-	DMRT3	ENST00000190165,p.S326F|uc003zgw.2,p.S326F|NM_021240,p.S326F	protein_coding	uc003zgw.2	nonsynonymous SNV	exon2	c.C977T	p.S326F	FEHTLSSYPISSSKWSVGSAFRVPD	FEHTLSSYPISSFKWSVGSAFRVPD	1.0	9.0	unscreened	-	1913_9:990563-990563 C>T_FEHTLSSYPISSFKWSVGSAFRVPD
1:182571244-182571244 A>T	0.0	1913	MELANOMA	-	-	-	-	RGS16	NM_002928,p.F82I|ENST00000367558,p.F82I|uc010pnv.1,p.F82I|uc001gpl.4,p.F82I	protein_coding	uc010pnv.1	nonsynonymous SNV	exon4	c.T244A	p.F82I	LSSKNGVAAFHAFLKTEFSEENLEF	LSSKNGVAAFHAILKTEFSEENLEF	1.0	2.0	unscreened	-	1913_1:182571244-182571244 A>T_LSSKNGVAAFHAILKTEFSEENLEF
2:44528223-44528223 C>T	0.0	1913	MELANOMA	-	-	-	-	SLC3A1	ENST00000410056,p.R365W|uc002rub.2,p.R365W|uc002rua.3,p.R365W|ENST00000409387,p.R365W|uc002ruc.4,p.R365W|uc002rud.4,p.R87W|ENST00000260649,p.R365W|ENST00000409380,p.R87W|uc002rty.3,p.R365W|ENST00000409741,p.R365W|NM_000341,p.R365W|uc002rtz.2,p.R365W|ENST00000409229,p.R365W	protein_coding	uc002rud.4	nonsynonymous SNV	exon3	c.C259T	p.R87W	TQVGMHDIVRSFRQTMDQYSTEPGR	TQVGMHDIVRSFWQTMDQYSTEPGR	8.0	5.0	unscreened	-	1913_2:44528223-44528223 C>T_TQVGMHDIVRSFWQTMDQYSTEPGR
13:19751395-19751395 C>T	0.0	1913	MELANOMA	-	-	ID=COSM182290;OCCURENCE=2(large_intestine),3(skin)	-	TUBA3C	ENST00000400113,p.R243Q|NM_006001,p.R243Q|uc009zzj.3,p.R243Q	protein_coding, processed_transcript	uc009zzj.3	nonsynonymous SNV	exon4	c.G728A	p.R243Q	IGQIVSSITASLRFDGALNVDLTEF	IGQIVSSITASLQFDGALNVDLTEF	1.0	9.0	unscreened	-	1913_13:19751395-19751395 C>T_IGQIVSSITASLQFDGALNVDLTEF
X:108718538-108718538 G>A	0.0	1913	MELANOMA	-	-	-	-	GUCY2F	uc022cch.1,p.R210W|NM_001522,p.R210W|ENST00000218006,p.R210W|uc004eod.4,p.R210W	protein_coding	uc022cch.1	nonsynonymous SNV	exon1	c.C628T	p.R210W	WVHTANRVASALRSHGLPVGVVLTT	WVHTANRVASALWSHGLPVGVVLTT	1.0	9.0	unscreened	-	1913_X:108718538-108718538 G>A_WVHTANRVASALWSHGLPVGVVLTT
1:110924405-110924405 G>A	0.0	1913	MELANOMA	-	-	-	-	SLC16A4	uc001dzp.2,p.A78V|NM_001201549,p.A78V|ENST00000369781,p.A78V|ENST00000369779,p.A78V|NM_004696,p.A78V|uc001dzo.2,p.A78V	protein_coding, processed_transcript, nonsense_mediated_decay	uc001dzp.2	nonsynonymous SNV	exon4	c.C233T	p.A78V	MSSLRFCAGPLVAIICDILGEKTTS	MSSLRFCAGPLVVIICDILGEKTTS	5.0	9.0	unscreened	-	1913_1:110924405-110924405 G>A_MSSLRFCAGPLVVIICDILGEKTTS
4:46043060-46043060 G>A	0.0	1913	MELANOMA	-	-	-	-	GABRG1	ENST00000295452,p.P448L|NM_173536,p.P448L|uc003gxb.3,p.P448L	protein_coding	uc003gxb.3	nonsynonymous SNV	exon9	c.C1343T	p.P448L	IAKIDSYSRIFFPTAFALFNLVYWV	IAKIDSYSRIFFLTAFALFNLVYWV	1.0	9.0	unscreened	-	1913_4:46043060-46043060 G>A_IAKIDSYSRIFFLTAFALFNLVYWV
X:105280841-105280841 G>A	0.0	1913	MELANOMA	-	-	-	-	SERPINA7	uc010npd.3,p.P70L|ENST00000327674,p.P70L|ENST00000372563,p.P70L|uc004eme.2,p.P70L|uc010npe.2,p.P70L|NM_000354,p.P70L	protein_coding, processed_transcript	uc010npe.2	nonsynonymous SNV	exon2	c.C209T	p.P70L	TVETPDKNIFFSPVSISAALVMLSF	TVETPDKNIFFSLVSISAALVMLSF	1.0	9.0	unscreened	-	1913_X:105280841-105280841 G>A_TVETPDKNIFFSLVSISAALVMLSF
14:20345253-20345253 C>T	0.0	1913	MELANOMA	-	-	-	-	OR4K2	uc001vwh.1,p.T276I|ENST00000298642,p.T276I|NM_001005501,p.T276I	protein_coding	uc001vwh.1	nonsynonymous SNV	exon1	c.C827T	p.T276I	SFLTDKILSVFYTIFTPTLNPIIYT	SFLTDKILSVFYIIFTPTLNPIIYT	1.0	5.0	unscreened	-	1913_14:20345253-20345253 C>T_SFLTDKILSVFYIIFTPTLNPIIYT
1:17609384-17609384 C>T	0.0	1913	MELANOMA	-	-	-	-	PADI3	uc001bai.3,p.P602L|ENST00000375460,p.P602L|NM_016233,p.P602L	protein_coding	uc001bai.3	nonsynonymous SNV	exon16	c.C1805T	p.P602L	MLVLGKHLGIPKPFGPIINGCCCLE	MLVLGKHLGIPKLFGPIINGCCCLE	1.0	1.0	unscreened	-	1913_1:17609384-17609384 C>T_MLVLGKHLGIPKLFGPIINGCCCLE
1:115615618-115615618 G>A	0.0	1913	MELANOMA	-	-	-	-	TSPAN2	ENST00000433172,p.S21L|ENST00000369514,p.S27L|NM_005725,p.S27L|uc021osc.1,p.S27L|ENST00000369515,p.S27L|ENST00000369516,p.S27L|uc001eft.3,p.S27L	protein_coding, processed_transcript	uc021osc.1	nonsynonymous SNV	exon2	c.C80T	p.S27L	LLGFNLLFWLAGSAVIAFGLWFRFG	LLGFNLLFWLAGLAVIAFGLWFRFG	1.0	9.0	unscreened	-	1913_1:115615618-115615618 G>A_LLGFNLLFWLAGLAVIAFGLWFRFG
2:108921112-108921112 C>T	0.0	1913	MELANOMA	-	-	-	-	SULT1C2	ENST00000251481,p.P153L|NM_176825,p.P164L|ENST00000437390,p.P167L|ENST00000409880,p.P116L|uc002tdy.3,p.P153L|uc002tdx.3,p.P164L|ENST00000326853,p.P164L|uc010ywp.1,p.P68L|uc010ywq.2,p.P167L|NM_001056,p.P153L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ywq.2	nonsynonymous SNV	exon5	c.C500T	p.P167L	YHFQRMNHMLPDPGTWEEYFETFIN	YHFQRMNHMLPDLGTWEEYFETFIN	1.0	4.0	unscreened	-	1913_2:108921112-108921112 C>T_YHFQRMNHMLPDLGTWEEYFETFIN
12:120587422-120587422 G>C	1.0	1913	MELANOMA	-	-	-	-	GCN1L1	NM_006836,p.R1512G|uc001txo.3,p.R1512G|ENST00000300648,p.R1512G	retained_intron, protein_coding	uc001txo.3	nonsynonymous SNV	exon36	c.C4534G	p.R1512G	PSLLAALEEESWRTKAGSVELLGAM	PSLLAALEEESWGTKAGSVELLGAM	9.0	7.0	unscreened	-	1913_12:120587422-120587422 G>C_PSLLAALEEESWGTKAGSVELLGAM
19:15794457-15794457 G>A	0.0	1913	MELANOMA	-	-	-	-	CYP4F12	ENST00000550308,p.D268N|ENST00000324632,p.D268N|uc002nbl.3,p.D268N|NM_023944,p.D268N	retained_intron, protein_coding, nonsense_mediated_decay	uc002nbl.3	nonsynonymous SNV	exon7	c.G802A	p.D268N	FHRACRLVHDFTDAVIRERRRTLPT	FHRACRLVHDFTNAVIRERRRTLPT	1.0	1.0	unscreened	-	1913_19:15794457-15794457 G>A_FHRACRLVHDFTNAVIRERRRTLPT
18:77193615-77193615 C>T	0.0	1913	MELANOMA	-	-	-	-	NFATC1	ENST00000590313,p.P42L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000590313	nonsynonymous SNV	exon2	c.C125T	p.P42L	ARPCPPWTGSCRPTQARMSFGLRCS	ARPCPPWTGSCRLTQARMSFGLRCS	5.0	1.0	unscreened	-	1913_18:77193615-77193615 C>T_ARPCPPWTGSCRLTQARMSFGLRCS
12:16507260-16507260 C>T	0.0	1913	MELANOMA	-	-	-	-	MGST1	ENST00000540126,p.S25L|uc031qgm.1,p.S25L|uc031qgl.1,p.S25L|uc001rdi.3,p.S25L|NM_145764,p.S25L|ENST00000396210,p.S25L|NM_145791,p.S25L|ENST00000536371,p.S25L|NM_020300,p.S25L|ENST00000396209,p.S25L|ENST00000540056,p.S25L|NM_001260512,p.S25L|ENST00000010404,p.S25L|ENST00000535309,p.S25L|NM_001260511,p.S25L|uc031qgj.1,p.S25L|uc001rdg.4,p.S25L|ENST00000538885,p.S25L|uc001rdf.3,p.S25L|uc001rdh.3,p.S25L|ENST00000396207,p.S25L|NM_001267598,p.S25L|NM_145792,p.S25L	retained_intron, protein_coding, processed_transcript, TEC	uc031qgm.1	nonsynonymous SNV	exon2	c.C74T	p.S25L	FMAFASYATIILSKMMLMSTATAFY	FMAFASYATIILLKMMLMSTATAFY	1.0	2.0	unscreened	-	1913_12:16507260-16507260 C>T_FMAFASYATIILLKMMLMSTATAFY
X:132162098-132162098 G>A	0.0	1913	MELANOMA	-	-	-	-	USP26	ENST00000370832,p.R51W|ENST00000511190,p.R51W|uc011mvf.2,p.R51W|NM_031907,p.R51W|ENST00000406273,p.R51W|uc010nrm.1,p.R51W	protein_coding, processed_transcript	uc011mvf.2	nonsynonymous SNV	exon1	c.C151T	p.R51W	VLYFKSGKYSTFRLSDNIQNVVLKS	VLYFKSGKYSTFWLSDNIQNVVLKS	1.0	9.0	unscreened	-	1913_X:132162098-132162098 G>A_VLYFKSGKYSTFWLSDNIQNVVLKS
18:63547948-63547948 C>T	0.0	1913	MELANOMA	-	-	-	-	CDH7	uc002lkb.3,p.P726S|uc002ljz.3,p.P726S|NM_004361,p.P726S|ENST00000397968,p.P726S|ENST00000323011,p.P726S|NM_033646,p.P726S	protein_coding, processed_transcript	uc002lkb.3	nonsynonymous SNV	exon12	c.C2176T	p.P726S	RLKEADVDPGAPPYDSLQTYAFEGN	RLKEADVDPGAPSYDSLQTYAFEGN	2.0	1.0	unscreened	-	1913_18:63547948-63547948 C>T_RLKEADVDPGAPSYDSLQTYAFEGN
19:14952196-14952196 G>A	0.0	1913	MELANOMA	-	-	-	-	OR7A10	uc002mzx.1,p.P165L|ENST00000248058,p.P165L|NM_001005190,p.P165L	protein_coding	uc002mzx.1	nonsynonymous SNV	exon1	c.C494T	p.P165L	VLNSMLQSLMVLPLPFCTHMEIPHF	VLNSMLQSLMVLLLPFCTHMEIPHF	1.0	9.0	unscreened	-	1913_19:14952196-14952196 G>A_VLNSMLQSLMVLLLPFCTHMEIPHF
2:25384321-25384321 G>A	0.0	1913	MELANOMA	-	-	-	-	POMC	ENST00000449220,p.R145C|NM_001035256,p.R145C|ENST00000395826,p.R145C|uc002rfy.1,p.R145C|uc002rfz.1,p.R145C|ENST00000405623,p.R145C|ENST00000264708,p.R145C|NM_000939,p.R145C|ENST00000380794,p.R145C|uc002rga.1,p.R145C	protein_coding	uc002rga.1	nonsynonymous SNV	exon3	c.C433T	p.R145C	REGKRSYSMEHFRWGKPVGKKRRPV	REGKRSYSMEHFCWGKPVGKKRRPV	1.0	9.0	unscreened	-	1913_2:25384321-25384321 G>A_REGKRSYSMEHFCWGKPVGKKRRPV
12:3692261-3692261 C>T	0.0	1913	MELANOMA	-	-	-	-	PRMT8	NM_001256536,p.S280L|ENST00000452611,p.S280L|uc009zed.3,p.S280L|ENST00000382622,p.S289L|uc001qmf.4,p.S289L|uc001qmg.3,p.S103L|NM_019854,p.S289L	retained_intron, protein_coding, processed_transcript	uc009zed.3	nonsynonymous SNV	exon8	c.C839T	p.S280L	EVDIYTVKTEELSFTSAFCLQIQRN	EVDIYTVKTEELLFTSAFCLQIQRN	1.0	2.0	unscreened	-	1913_12:3692261-3692261 C>T_EVDIYTVKTEELLFTSAFCLQIQRN
14:86088126-86088126 G>A	0.0	1913	MELANOMA	-	-	-	-	FLRT2	uc010atd.3,p.V90M|ENST00000554746,p.V90M|NM_013231,p.V90M|uc001xvr.3,p.V90M|uc021rxf.1,p.V90M|ENST00000330753,p.V90M	retained_intron, protein_coding, processed_transcript	uc021rxf.1	nonsynonymous SNV	exon1	c.G268A	p.V90M	AGFPAELHNVQSVHTVYLYGNQLDE	AGFPAELHNVQSMHTVYLYGNQLDE	1.0	9.0	unscreened	-	1913_14:86088126-86088126 G>A_AGFPAELHNVQSMHTVYLYGNQLDE
8:56708550-56708550 C>T	1.0	1913	MELANOMA	-	-	-	-	TGS1	uc010lyh.3,p.P365S|ENST00000260129,p.P461S|NM_024831,p.P461S|uc003xsj.4,p.P461S	retained_intron, protein_coding, nonsense_mediated_decay	uc010lyh.3	nonsynonymous SNV	exon6	c.C1093T	p.P365S	FKYGSGQKYGGIPNFSHRQVRYLEK	FKYGSGQKYGGISNFSHRQVRYLEK	7.0	6.0	unscreened	-	1913_8:56708550-56708550 C>T_FKYGSGQKYGGISNFSHRQVRYLEK
2:136567419-136567419 T>A	0.0	1913	MELANOMA	-	-	-	-	LCT	uc002tuu.1,p.K833I|NM_002299,p.K833I|ENST00000452974,p.K265I|ENST00000264162,p.K833I	protein_coding, nonsense_mediated_decay	uc002tuu.1	nonsynonymous SNV	exon8	c.A2498T	p.K833I	NFSDSSKSRTPRKSAYFFTSIIEKN	NFSDSSKSRTPRISAYFFTSIIEKN	2.0	1.0	unscreened	-	1913_2:136567419-136567419 T>A_NFSDSSKSRTPRISAYFFTSIIEKN
3:51664372-51664372 G>T	1.0	1913	MELANOMA	-	-	-	-	RAD54L2	NM_015106,p.S189I|ENST00000409535,p.S189I|uc011bdt.2,p.S189I	retained_intron, protein_coding	uc011bdt.2	nonsynonymous SNV	exon5	c.G566T	p.S189I	VLAQEVICLDSSSGSEDEKSSRDEV	VLAQEVICLDSSIGSEDEKSSRDEV	6.0	8.0	unscreened	-	1913_3:51664372-51664372 G>T_VLAQEVICLDSSIGSEDEKSSRDEV
11:5221591-5221591 G>A	0.0	1913	MELANOMA	-	-	-	-	OR51V1	ENST00000321255,p.H114Y|uc010qyz.2,p.H114Y|NM_001004760,p.H114Y	protein_coding	uc010qyz.2	nonsynonymous SNV	exon1	c.C340T	p.H114Y	SLDSCIAQSYFIHGLSFMESSVLLT	SLDSCIAQSYFIYGLSFMESSVLLT	1.0	2.0	unscreened	-	1913_11:5221591-5221591 G>A_SLDSCIAQSYFIYGLSFMESSVLLT
1:91846507-91846507 G>A	0.0	1913	MELANOMA	-	-	-	-	HFM1	uc001doc.1,p.P279S|uc001doa.4,p.P279S|ENST00000370425,p.P279S|NM_001017975,p.P279S|ENST00000448819,p.P138S	retained_intron, protein_coding, processed_transcript	uc001doc.1	nonsynonymous SNV	exon6	c.C835T	p.P279S	IPAKFRSIFKEFPYFNYIQSKAFDD	IPAKFRSIFKEFSYFNYIQSKAFDD	1.0	9.0	unscreened	-	1913_1:91846507-91846507 G>A_IPAKFRSIFKEFSYFNYIQSKAFDD
4:47939406-47939406 G>A	0.0	1913	MELANOMA	-	-	-	-	CNGA1	NM_001142564,p.P438S|ENST00000420489,p.P369S|uc003gxu.3,p.P438S|uc003gxt.4,p.P369S|ENST00000402813,p.P438S|ENST00000514170,p.P369S|ENST00000358519,p.P369S|NM_000087,p.P369S|ENST00000544810,p.P369S	retained_intron, protein_coding	uc003gxu.3	nonsynonymous SNV	exon10	c.C1312T	p.P438S	TLTLTTIGETPPPVRDSEYVFVVVD	TLTLTTIGETPPSVRDSEYVFVVVD	2.0	9.0	unscreened	-	1913_4:47939406-47939406 G>A_TLTLTTIGETPPSVRDSEYVFVVVD
3:121615332-121615332 G>A	0.0	1913	MELANOMA	-	-	-	-	SLC15A2	NM_001145998,p.G62E|ENST00000489711,p.G62E|uc003eep.2,p.G62E|NM_021082,p.G62E|uc011bjn.1,p.G62E|ENST00000295605,p.G62E	protein_coding, processed_transcript	uc011bjn.1	nonsynonymous SNV	exon2	c.G185A	p.G62E	VVNEFCERFSYYGMKAVLILYFLYF	VVNEFCERFSYYEMKAVLILYFLYF	4.0	1.0	unscreened	-	1913_3:121615332-121615332 G>A_VVNEFCERFSYYEMKAVLILYFLYF
14:24839583-24839583 C>T	1.0	1913	MELANOMA	-	-	-	-	NFATC4	uc010tox.2,p.P257S|uc010tot.2,p.P315S|NM_004554,p.P327S|ENST00000556169,p.P315S|ENST00000422617,p.P315S|ENST00000413692,p.P390S|ENST00000424781,p.P340S|uc010toq.2,p.P359S|ENST00000553469,p.P359S|uc010tou.2,p.P257S|uc001wpc.3,p.P327S|ENST00000557451,p.P257S|ENST00000554050,p.P327S|NM_001198965,p.P327S|NM_001198967,p.P390S|uc010tol.2,p.P390S|ENST00000554591,p.P390S|ENST00000539237,p.P359S|uc010top.2,p.P359S|NM_001198966,p.P257S|ENST00000553879,p.P257S|uc010tov.2,p.P315S|ENST00000553708,p.P327S|uc010alv.3,p.P315S|uc010tow.2,p.P257S|uc010tom.2,p.P340S|uc010too.2,p.P340S|ENST00000554344,p.P257S|uc010tos.2,p.P257S|ENST00000556279,p.P359S|ENST00000554966,p.P340S|uc010als.2,p.P340S|uc010alt.3,p.P359S|uc010alr.3,p.P390S|NM_001288802,p.P315S|uc010tor.2,p.P327S|uc010ton.2,p.P340S|NM_001136022,p.P390S|ENST00000250373,p.P327S|ENST00000555590,p.P340S|uc010tok.2,p.P390S|ENST00000554661,p.P257S|ENST00000555453,p.P315S	retained_intron, protein_coding, processed_transcript	uc010tox.2	nonsynonymous SNV	exon1	c.C769T	p.P257S	FDYVGAPPAESIPQKTRRTSSEQAV	FDYVGAPPAESISQKTRRTSSEQAV	9.0	8.0	unscreened	-	1913_14:24839583-24839583 C>T_FDYVGAPPAESISQKTRRTSSEQAV
2:238728939-238728939 C>T	0.0	1913	MELANOMA	-	-	ID=COSM277031,COSM277032;OCCURENCE=1(large_intestine)	-	RBM44	ENST00000316997,p.R621C|ENST00000409864,p.R621C|uc002vxi.4,p.R621C|NM_001080504,p.R621C	retained_intron, protein_coding, processed_transcript	uc002vxi.4	nonsynonymous SNV	exon5	c.C1861T	p.R621C	LHLLNVHYQMCRRHCCDIYKLVMEN	LHLLNVHYQMCRCHCCDIYKLVMEN	2.0	2.0	unscreened	-	1913_2:238728939-238728939 C>T_LHLLNVHYQMCRCHCCDIYKLVMEN
19:45998201-45998201 C>T	1.0	1913	MELANOMA	-	-	-	-	RTN2	uc002pcc.4,p.E48K|ENST00000344680,p.E48K|ENST00000245923,p.E48K|NM_206900,p.E48K|uc002pcb.4,p.E48K|ENST00000587597,p.E48K|NM_005619,p.E48K|ENST00000591286,p.E48K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002pcc.4	nonsynonymous SNV	exon3	c.G142A	p.E48K	ELHTAREFSEEDEEETTSQDWGTPR	ELHTAREFSEEDKEETTSQDWGTPR	6.0	4.0	unscreened	-	1913_19:45998201-45998201 C>T_ELHTAREFSEEDKEETTSQDWGTPR
X:153421843-153421843 G>A	0.0	1913	MELANOMA	-	-	-	-	OPN1LW	ENST00000369951,p.M273I|uc004fjz.4,p.M273I|NM_020061,p.M273I	protein_coding, processed_transcript	uc004fjz.4	nonsynonymous SNV	exon5	c.G819A	p.M273I	KAEKEVTRMVVVMIFAYCVCWGPYT	KAEKEVTRMVVVIIFAYCVCWGPYT	1.0	5.0	unscreened	-	1913_X:153421843-153421843 G>A_KAEKEVTRMVVVIIFAYCVCWGPYT
9:35076568-35076568 G>A	1.0	1913	MELANOMA	-	-	-	1	FANCG	NM_004629,p.P313S|uc003zwb.1,p.P313S|uc011lot.1,p.P313S|ENST00000378643,p.P313S|uc010mkj.1,p.P55S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lot.1	nonsynonymous SNV	exon9	c.C937T	p.P313S	ESLELLVEALNVPCSSKAPQFLIEV	ESLELLVEALNVSCSSKAPQFLIEV	9.0	2.0	unscreened	-	1913_9:35076568-35076568 G>A_ESLELLVEALNVSCSSKAPQFLIEV
20:61430401-61430401 G>A	1.0	1913	MELANOMA	-	-	-	-	MRGBP	ENST00000370487,p.V143I|uc002ydi.3,p.V143I|NM_018270,p.V143I	protein_coding	uc002ydi.3	nonsynonymous SNV	exon4	c.G427A	p.V143I	KEDVDPHNGADDVFSSSGSLGKASE	KEDVDPHNGADDIFSSSGSLGKASE	9.0	9.0	unscreened	-	1913_20:61430401-61430401 G>A_KEDVDPHNGADDIFSSSGSLGKASE
11:74904357-74904357 G>A	0.0	1913	MELANOMA	-	-	-	-	SLCO2B1	uc001owb.3,p.M390I|NM_007256,p.M390I|uc010rrr.2,p.M246I|uc001owd.3,p.M368I|NM_001145212,p.M246I|NM_001145211,p.M368I	retained_intron, protein_coding, processed_transcript, TEC	uc010rrr.2	nonsynonymous SNV	exon6	c.G738A	p.M246I	LSQVCLSSMAAGMATFLPKFLERQF	LSQVCLSSMAAGIATFLPKFLERQF	1.0	3.0	unscreened	-	1913_11:74904357-74904357 G>A_LSQVCLSSMAAGIATFLPKFLERQF
3:46062593-46062593 T>C	0.0	1913	MELANOMA	-	-	-	-	XCR1	NM_001024644,p.N283D|ENST00000542109,p.N283D|NM_005283,p.N283D|ENST00000309285,p.N283D|uc003cpf.3,p.N283D|uc003cpe.3,p.N283D|uc021wwx.1,p.N283D	protein_coding	uc021wwx.1	nonsynonymous SNV	exon1	c.A847G	p.N283D	ICRNLAFSHCCFNPVLYVFVGVKFR	ICRNLAFSHCCFDPVLYVFVGVKFR	1.0	2.0	unscreened	-	1913_3:46062593-46062593 T>C_ICRNLAFSHCCFDPVLYVFVGVKFR
11:4928765-4928765 C>T	0.0	1913	MELANOMA	-	-	ID=COSM3448234;OCCURENCE=1(breast)	-	OR51A7	uc010qyq.2,p.H56Y|NM_001004749,p.H56Y|ENST00000359350,p.H56Y	protein_coding	uc010qyq.2	nonsynonymous SNV	exon1	c.C166T	p.H56Y	TILFIIKTEPSLHEPMYYFLAMLAV	TILFIIKTEPSLYEPMYYFLAMLAV	1.0	7.0	unscreened	-	1913_11:4928765-4928765 C>T_TILFIIKTEPSLYEPMYYFLAMLAV
8:142486104-142486104 G>A	0.0	1913	MELANOMA	-	-	-	-	MROH5	uc003ywi.2,p.P530L	protein_coding, polymorphic_pseudogene, nonsense_mediated_decay	uc003ywi.2	nonsynonymous SNV	exon13	c.C1589T	p.P530L	CLFLEPPNIQLWPVARERAGWTHQG	CLFLEPPNIQLWLVARERAGWTHQG	1.0	4.0	unscreened	-	1913_8:142486104-142486104 G>A_CLFLEPPNIQLWLVARERAGWTHQG
8:2021512-2021512 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1455979;OCCURENCE=1(large_intestine)	-	MYOM2	uc003wpx.4,p.G351D|ENST00000262113,p.G351D|NM_003970,p.G351D	retained_intron, protein_coding, processed_transcript	uc003wpx.4	nonsynonymous SNV	exon10	c.G1052A	p.G351D	SLSFSHLHKDDEGLYTLRIVSRGGV	SLSFSHLHKDDEDLYTLRIVSRGGV	6.0	4.0	unscreened	-	1913_8:2021512-2021512 G>A_SLSFSHLHKDDEDLYTLRIVSRGGV
19:41822342-41822342 C>T	1.0	1913	MELANOMA	-	-	-	-	CCDC97	uc002oqg.3,p.P34S|NM_052848,p.P34S|ENST00000269967,p.P34S	protein_coding	uc002oqg.3	nonsynonymous SNV	exon2	c.C100T	p.P34S	PGHWGELSRTPVPSKPQDKVEAAEA	PGHWGELSRTPVSSKPQDKVEAAEA	8.0	1.0	unscreened	-	1913_19:41822342-41822342 C>T_PGHWGELSRTPVSSKPQDKVEAAEA
12:70194043-70194043 G>A	1.0	1913	MELANOMA	-	-	-	-	RAB3IP	uc001svq.3,p.D331N|ENST00000247833,p.D315N|ENST00000483530,p.D315N|uc001svp.3,p.D331N|NM_001278402,p.D109N|ENST00000553099,p.D109N|ENST00000378809,p.D331N|uc001svn.3,p.D315N|ENST00000325555,p.D109N|uc001svt.3,p.D109N|NM_001024647,p.D109N|NM_022456,p.D315N|uc001svm.3,p.D315N|NM_175623,p.D331N|NM_175625,p.D331N|ENST00000550847,p.D22N|ENST00000551641,p.D109N|ENST00000362025,p.D331N|NM_175624,p.D315N|ENST00000550536,p.D331N	retained_intron, protein_coding, nonsense_mediated_decay	uc001svt.3	nonsynonymous SNV	exon5	c.G325A	p.D109N	NEFRLWKDEPTMDRTCPFLDKIYQE	NEFRLWKDEPTMNRTCPFLDKIYQE	5.0	8.0	unscreened	-	1913_12:70194043-70194043 G>A_NEFRLWKDEPTMNRTCPFLDKIYQE
6:117244336-117244336 T>A	0.0	1913	MELANOMA	-	-	-	-	RFX6	ENST00000332958,p.F502I|uc003pxm.3,p.F502I|NM_173560,p.F502I	retained_intron, protein_coding, processed_transcript	uc003pxm.3	nonsynonymous SNV	exon14	c.T1504A	p.F502I	KRAQDFLLKWSFFGARVMHNLTLNN	KRAQDFLLKWSFIGARVMHNLTLNN	1.0	8.0	unscreened	-	1913_6:117244336-117244336 T>A_KRAQDFLLKWSFIGARVMHNLTLNN
11:123777916-123777916 C>T	0.0	1913	MELANOMA	-	-	-	-	OR8D4	NM_001005197,p.L260F|ENST00000321355,p.L260F|uc010saa.2,p.L260F	protein_coding	uc010saa.2	nonsynonymous SNV	exon1	c.C778T	p.L260F	VLMFYGSLMSMYLKPASSSSLTQEK	VLMFYGSLMSMYFKPASSSSLTQEK	1.0	9.0	unscreened	-	1913_11:123777916-123777916 C>T_VLMFYGSLMSMYFKPASSSSLTQEK
18:28979419-28979419 G>A	0.0	1913	MELANOMA	-	-	-	-	DSG4	uc002kwq.2,p.G397E|ENST00000308128,p.G397E|NM_001134453,p.G397E|NM_177986,p.G397E|ENST00000359747,p.G397E|uc002kwr.2,p.G397E	protein_coding	uc002kwr.2	nonsynonymous SNV	exon9	c.G1190A	p.G397E	FHPSTMAFSVREGIKGSSLLNYVLG	FHPSTMAFSVREEIKGSSLLNYVLG	1.0	9.0	unscreened	-	1913_18:28979419-28979419 G>A_FHPSTMAFSVREEIKGSSLLNYVLG
5:149452973-149452973 C>T	0.0	1913	MELANOMA	-	-	-	2	CSF1R	NM_005211,p.V325M|uc003lrm.3,p.V325M|NM_001288705,p.V325M|ENST00000286301,p.V325M|uc011dcd.2,p.V177M|ENST00000504875,p.V325M|uc003lrl.3,p.V325M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dcd.2	nonsynonymous SNV	exon5	c.G529A	p.V177M	VTVGEGLNLKVMVEAYPGLQGFNWT	VTVGEGLNLKVMMEAYPGLQGFNWT	4.0	2.0	unscreened	-	1913_5:149452973-149452973 C>T_VTVGEGLNLKVMMEAYPGLQGFNWT
5:176523119-176523119 T>A	1.0	1913	MELANOMA	-	-	-	1	FGFR4	ENST00000393637,p.I588N|ENST00000292408,p.I628N|NM_001291980,p.I560N|uc011dfu.2,p.I560N|ENST00000393648,p.I560N|ENST00000292410,p.I588N|NM_002011,p.I628N|uc003mfm.3,p.I628N|NM_213647,p.I628N|NM_022963,p.I588N|ENST00000502906,p.I628N|uc003mfo.3,p.I588N|uc003mfl.3,p.I628N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dfu.2	nonsynonymous SNV	exon14	c.T1679A	p.I560N	RNVLVTEDNVMKIADFGLARGVHHI	RNVLVTEDNVMKNADFGLARGVHHI	5.0	8.0	unscreened	-	1913_5:176523119-176523119 T>A_RNVLVTEDNVMKNADFGLARGVHHI
17:79414401-79414401 C>T	1.0	1913	MELANOMA	-	-	-	-	BAHCC1	ENST00000307745,p.P1168L|uc002kae.2,p.P398L	retained_intron, protein_coding, processed_transcript	uc002kae.2	nonsynonymous SNV	exon7	c.C1193T	p.P398L	ELQCAALLEAGGPEATGQAHSTQGG	ELQCAALLEAGGLEATGQAHSTQGG	6.0	4.0	unscreened	-	1913_17:79414401-79414401 C>T_ELQCAALLEAGGLEATGQAHSTQGG
3:121659245-121659245 G>A	1.0	1913	MELANOMA	-	-	-	-	SLC15A2	ENST00000489711,p.M641I|NM_021082,p.M641I|uc011bjn.1,p.M610I|ENST00000295605,p.M610I|NM_001145998,p.M610I|uc003eep.2,p.M641I	protein_coding, processed_transcript	uc011bjn.1	nonsynonymous SNV	exon20	c.G1830A	p.M610I	GLEFSYSQAPSSMKSVLQAAWLLTI	GLEFSYSQAPSSIKSVLQAAWLLTI	4.0	7.0	unscreened	-	1913_3:121659245-121659245 G>A_GLEFSYSQAPSSIKSVLQAAWLLTI
11:124252402-124252402 C>T	0.0	1913	MELANOMA	-	-	-	-	OR8B2	uc010sai.2,p.V280M|NM_001005468,p.V280M|ENST00000375013,p.V280M	protein_coding	uc010sai.2	nonsynonymous SNV	exon1	c.G838A	p.V280M	EQGKVSSVFYTNVVPMLNPLIYSLR	EQGKVSSVFYTNMVPMLNPLIYSLR	1.0	3.0	unscreened	-	1913_11:124252402-124252402 C>T_EQGKVSSVFYTNMVPMLNPLIYSLR
4:155487765-155487765 C>T	0.0	1913	MELANOMA	-	-	-	-	FGB	NM_005141,p.S144F|uc003ioa.4,p.S144F|uc010ipv.3,p.S85F|NM_001184741,p.S85F|ENST00000302068,p.S144F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ipv.3	nonsynonymous SNV	exon3	c.C254T	p.S85F	NNVEAVSQTSSSSFQYMYLLKDLWQ	NNVEAVSQTSSSFFQYMYLLKDLWQ	1.0	9.0	unscreened	-	1913_4:155487765-155487765 C>T_NNVEAVSQTSSSFFQYMYLLKDLWQ
11:74904357-74904357 G>A	0.0	1913	MELANOMA	-	-	-	-	SLCO2B1	ENST00000532236,p.M274I|ENST00000428359,p.M368I|uc010rrq.2,p.M135I|ENST00000341411,p.M163I|ENST00000531756,p.M135I|ENST00000289575,p.M390I|ENST00000525650,p.M246I|uc001owc.3,p.M163I|ENST00000454962,p.M163I|uc010rrs.2,p.M274I	retained_intron, protein_coding, processed_transcript, TEC	uc010rrs.2	nonsynonymous SNV	exon7	c.G822A	p.M274I	LSQVCLSSMAAGMAIFLPKFLERQF	LSQVCLSSMAAGIAIFLPKFLERQF	1.0	3.0	unscreened	-	1913_11:74904357-74904357 G>A_LSQVCLSSMAAGIAIFLPKFLERQF
5:102423649-102423649 A>G	1.0	1913	MELANOMA	-	-	-	-	GIN1	uc003koa.1,p.F508L|NM_017676,p.F508L|ENST00000399004,p.F508L|uc003kob.1,p.F361L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003kob.1	nonsynonymous SNV	exon7	c.T1081C	p.F361L	LIDDHSSLEKQTFSLLDSSNQVLEY	LIDDHSSLEKQTLSLLDSSNQVLEY	6.0	9.0	unscreened	-	1913_5:102423649-102423649 A>G_LIDDHSSLEKQTLSLLDSSNQVLEY
19:22155885-22155885 T>A	0.0	1913	MELANOMA	-	-	-	-	ZNF208	NM_007153,p.T651S|uc021urr.1,p.T651S|ENST00000397126,p.T651S	protein_coding	uc021urr.1	nonsynonymous SNV	exon4	c.A1951T	p.T651S	CKECGKTFIKVSTLTTHKAIHAGEK	CKECGKTFIKVSSLTTHKAIHAGEK	1.0	8.0	unscreened	-	1913_19:22155885-22155885 T>A_CKECGKTFIKVSSLTTHKAIHAGEK
11:83770448-83770448 C>T	1.0	1913	MELANOMA	-	-	-	-	DLG2	ENST00000376104,p.E277K|uc010rta.1,p.E172K|ENST00000330014,p.E111K|ENST00000524982,p.E172K|uc001pak.2,p.E277K|ENST00000543673,p.E277K|ENST00000531015,p.E139K|NM_001300983,p.E172K|ENST00000532653,p.E172K|NM_001142699,p.E277K|uc001pal.1,p.E172K|uc001paj.2,p.E172K|NM_001206769,p.E211K|ENST00000418306,p.E121K|ENST00000398309,p.E172K|uc010rtb.1,p.E139K|uc021qof.1,p.E211K|NM_001364,p.E172K|uc010rsz.1,p.E172K|ENST00000398299,p.E89K|ENST00000280241,p.E211K|uc001pam.2,p.E211K|ENST00000398301,p.E211K|NM_001142700,p.E121K|uc010rsy.1,p.E139K|uc001pai.2,p.E121K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qof.1	nonsynonymous SNV	exon5	c.G631A	p.E211K	EVSHSKAVEALKEAGSIVRLYVRRR	EVSHSKAVEALKKAGSIVRLYVRRR	4.0	9.0	unscreened	-	1913_11:83770448-83770448 C>T_EVSHSKAVEALKKAGSIVRLYVRRR
3:78656047-78656047 C>T	1.0	1913	MELANOMA	-	-	-	-	ROBO1	ENST00000436010,p.S1488N|ENST00000464233,p.S1527N|ENST00000467549,p.S1427N|uc011bgl.1,p.S1099N|uc003dqe.2,p.S1527N|NM_001145845,p.S1427N|uc010hoh.2,p.S719N|uc003dqc.2,p.S1427N|uc003dqd.2,p.S1482N|uc003dqb.2,p.S1488N|ENST00000495273,p.S1482N|NM_133631,p.S1482N|NM_002941,p.S1527N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bgl.1	nonsynonymous SNV	exon19	c.G3296A	p.S1099N	DARTDRSSDRKGSSYKGREVLDGRQ	DARTDRSSDRKGNSYKGREVLDGRQ	9.0	8.0	unscreened	-	1913_3:78656047-78656047 C>T_DARTDRSSDRKGNSYKGREVLDGRQ
18:10696169-10696169 G>A	0.0	1913	MELANOMA	-	-	-	-	PIEZO2	uc002koq.3,p.L107F|ENST00000285141,p.L107F|ENST00000302079,p.L2252F|NM_022068,p.L2252F|ENST00000580640,p.L2277F|uc002kos.2,p.L2252F|ENST00000503781,p.L2252F|ENST00000538948,p.L209F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kos.2	nonsynonymous SNV	exon43	c.C6754T	p.L2252F	QFGTMVVDRALYLRKTVLGKVIFQV	QFGTMVVDRALYFRKTVLGKVIFQV	1.0	1.0	unscreened	-	1913_18:10696169-10696169 G>A_QFGTMVVDRALYFRKTVLGKVIFQV
6:100403984-100403984 C>T	0.0	1913	MELANOMA	-	-	ID=COSM3429797,COSM107744;OCCURENCE=2(large_intestine),1(skin)	-	MCHR2	uc003pqi.1,p.E14K|ENST00000445970,p.E14K|uc003pqh.1,p.E14K|NM_032503,p.E14K|ENST00000281806,p.E14K|ENST00000369212,p.E14K|NM_001040179,p.E14K	protein_coding	uc003pqi.1	nonsynonymous SNV	exon2	c.G40A	p.E14K	NPFHASCWNTSAELLNKSWNKEFAY	NPFHASCWNTSAKLLNKSWNKEFAY	1.0	8.0	unscreened	-	1913_6:100403984-100403984 C>T_NPFHASCWNTSAKLLNKSWNKEFAY
4:185606735-185606735 C>T	1.0	1913	MELANOMA	-	-	-	-	PRIMPOL	NM_001300767,p.R269W|uc003iwj.2,p.R397W|NM_152683,p.R398W|ENST00000503752,p.R398W|ENST00000512834,p.R397W|ENST00000314970,p.R398W|NM_001300768,p.R397W|ENST00000508001,p.R72W|uc003iwn.2,p.R138W|uc003iwk.2,p.R398W|ENST00000515774,p.R269W|uc003iwm.2,p.R269W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003iwn.2	nonsynonymous SNV	exon7	c.C412T	p.R138W	SLVNKDGIKGGIRRWNYFFPEELLV	SLVNKDGIKGGIWRWNYFFPEELLV	8.0	9.0	unscreened	-	1913_4:185606735-185606735 C>T_SLVNKDGIKGGIWRWNYFFPEELLV
14:44975118-44975118 G>A	0.0	1913	MELANOMA	-	-	-	-	FSCB	uc001wvn.3,p.S358F|ENST00000340446,p.S358F|NM_032135,p.S358F	protein_coding	uc001wvn.3	nonsynonymous SNV	exon1	c.C1073T	p.S358F	LLAEILPPSAEESPSEEPPAEILPP	LLAEILPPSAEEFPSEEPPAEILPP	1.0	7.0	unscreened	-	1913_14:44975118-44975118 G>A_LLAEILPPSAEEFPSEEPPAEILPP
3:96706657-96706657 C>T	0.0	1913	MELANOMA	-	-	-	-	EPHA6	NM_001278301,p.P312S|NM_001080448,p.P312S|uc031sar.1,p.P312S|ENST00000470610,p.P312S|ENST00000389672,p.P312S|uc010how.1,p.P312S|ENST00000542517,p.P218S|uc003drp.1,p.P312S	protein_coding, nonsense_mediated_decay	uc031sar.1	nonsynonymous SNV	exon3	c.C934T	p.P312S	KCPFTVRNLAMFPDTIPRVDSSSLV	KCPFTVRNLAMFSDTIPRVDSSSLV	1.0	2.0	unscreened	-	1913_3:96706657-96706657 C>T_KCPFTVRNLAMFSDTIPRVDSSSLV
5:140482487-140482487 G>A	0.0	1913	MELANOMA	-	-	-	-	PCDHB3	ENST00000231130,p.E752K|uc003lio.3,p.E752K|NM_018937,p.E752K	protein_coding	uc003lio.3	nonsynonymous SNV	exon1	c.G2254A	p.E752K	SGTGTLSQSYQYEVCLTGGSGTNEF	SGTGTLSQSYQYKVCLTGGSGTNEF	2.0	3.0	unscreened	-	1913_5:140482487-140482487 G>A_SGTGTLSQSYQYKVCLTGGSGTNEF
3:11067493-11067493 C>T	0.0	1913	MELANOMA	-	-	-	-	SLC6A1	NM_003042,p.S295L|ENST00000536032,p.S117L|uc031ryl.1,p.S117L|uc010hdq.3,p.S295L|ENST00000287766,p.S295L	retained_intron, protein_coding, processed_transcript	uc031ryl.1	nonsynonymous SNV	exon6	c.C350T	p.S117L	EVWLDAATQIFFSYGLGLGSLIALG	EVWLDAATQIFFLYGLGLGSLIALG	1.0	8.0	unscreened	-	1913_3:11067493-11067493 C>T_EVWLDAATQIFFLYGLGLGSLIALG
2:179444935-179444935 T>G	1.0	1913	MELANOMA	-	-	-	-	TTN	ENST00000342992,p.N19792T|uc021vtb.2,p.N13295T|ENST00000460472,p.N13295T|uc031rqd.1,p.N20719T|NM_133432,p.N13420T|NM_133378,p.N19792T|NM_133437,p.N13487T|uc021vta.2,p.N13420T|NM_003319,p.N13295T|uc031rqc.1,p.N22360T|uc021vsy.2,p.N19792T|ENST00000359218,p.N13420T|ENST00000591111,p.N20719T|uc021vsz.2,p.N13487T|NM_001256850,p.N20719T|ENST00000589042,p.N22360T|ENST00000342175,p.N13487T|NM_001267550,p.N22360T	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon268	c.A62156C	p.N20719T	VVKVLDTPGPPVNVTVKEISKDSAY	VVKVLDTPGPPVTVTVKEISKDSAY	2.0	6.0	unscreened	-	1913_2:179444935-179444935 T>G_VVKVLDTPGPPVTVTVKEISKDSAY
17:47218803-47218803 G>A	0.0	1913	MELANOMA	-	-	-	-	B4GALNT2	NM_153446,p.G130E|NM_001159388,p.G44E|uc010wlu.1,p.G70E|NM_001159387,p.G70E|ENST00000300404,p.G130E|uc002ion.2,p.G130E|ENST00000504681,p.G44E|uc010wlt.1,p.G44E|ENST00000393354,p.G70E	protein_coding	uc010wlu.1	nonsynonymous SNV	exon2	c.G209A	p.G70E	PEERLRNLFSYDGIWLFPKNQCKCE	PEERLRNLFSYDEIWLFPKNQCKCE	1.0	4.0	unscreened	-	1913_17:47218803-47218803 G>A_PEERLRNLFSYDEIWLFPKNQCKCE
6:127469946-127469946 A>T	0.0	1913	MELANOMA	-	-	-	1	RSPO3	ENST00000356698,p.Y84F|uc003qar.3,p.Y84F|ENST00000368317,p.Y84F|NM_032784,p.Y84F|uc003qas.1,p.Y84F	protein_coding, processed_transcript	uc003qas.1	nonsynonymous SNV	exon2	c.A251T	p.Y84F	QIGVCLSSCPSGYYGTRYPDINKCT	QIGVCLSSCPSGFYGTRYPDINKCT	1.0	9.0	unscreened	-	1913_6:127469946-127469946 A>T_QIGVCLSSCPSGFYGTRYPDINKCT
13:52971627-52971627 G>A	0.0	1913	MELANOMA	-	-	-	-	THSD1	NM_018676,p.S254F|ENST00000349258,p.S254F|uc001vgo.3,p.S254F|NM_199263,p.S254F|uc001vgp.3,p.S254F|ENST00000258613,p.S254F	protein_coding	uc001vgp.3	nonsynonymous SNV	exon3	c.C761T	p.S254F	YKLVMVPELTCESGVEVTVLPPPCT	YKLVMVPELTCEFGVEVTVLPPPCT	4.0	9.0	unscreened	-	1913_13:52971627-52971627 G>A_YKLVMVPELTCEFGVEVTVLPPPCT
19:47124832-47124832 G>A	0.0	1913	MELANOMA	-	-	-	-	PTGIR	ENST00000597185,p.P18L|uc002pex.3,p.P289L|ENST00000598865,p.P77L|ENST00000594275,p.P46L|NM_000960,p.P289L|ENST00000291294,p.P289L	retained_intron, protein_coding	uc002pex.3	nonsynonymous SNV	exon3	c.C866T	p.P289L	AFRFYAFNPILDPWVFILFRKAVFQ	AFRFYAFNPILDLWVFILFRKAVFQ	1.0	4.0	unscreened	-	1913_19:47124832-47124832 G>A_AFRFYAFNPILDLWVFILFRKAVFQ
14:94203674-94203674 G>A	1.0	1913	MELANOMA	-	-	-	-	PRIMA1	uc001ybw.1,p.S91L|ENST00000393143,p.S91L|ENST00000316227,p.S91L|NM_178013,p.S91L|ENST00000477603,p.S91L|ENST00000393140,p.S91L	protein_coding, nonsense_mediated_decay	uc001ybw.1	nonsynonymous SNV	exon4	c.C272T	p.S91L	NSTSCPTEESWWSGLVIIIAVCCAS	NSTSCPTEESWWLGLVIIIAVCCAS	4.0	9.0	unscreened	-	1913_14:94203674-94203674 G>A_NSTSCPTEESWWLGLVIIIAVCCAS
7:82544610-82544610 G>A	0.0	1913	MELANOMA	-	-	ID=COSM222128;OCCURENCE=1(skin)	-	PCLO	ENST00000333891,p.S4231F|ENST00000423517,p.S4231F|uc003uhx.2,p.S4231F|ENST00000437081,p.S951F|NM_014510,p.S4231F|uc010lec.3,p.S1196F|uc003uhv.2,p.S4231F|NM_033026,p.S4231F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lec.3	nonsynonymous SNV	exon2	c.C3587T	p.S1196F	YMTSSTSSIGGISSRARLLQDDITF	YMTSSTSSIGGIFSRARLLQDDITF	1.0	4.0	unscreened	-	1913_7:82544610-82544610 G>A_YMTSSTSSIGGIFSRARLLQDDITF
11:6048031-6048031 G>A	0.0	1913	MELANOMA	-	-	-	-	OR56A1	ENST00000316650,p.R302W|NM_001001917,p.R302W|uc010qzw.2,p.R302W	protein_coding	uc010qzw.2	nonsynonymous SNV	exon1	c.C904T	p.R302W	IPPALNPIVYGVRTKEIKQGIQKLL	IPPALNPIVYGVWTKEIKQGIQKLL	1.0	9.0	unscreened	-	1913_11:6048031-6048031 G>A_IPPALNPIVYGVWTKEIKQGIQKLL
20:2413188-2413188 C>T	0.0	1913	MELANOMA	-	-	-	-	TGM6	uc002wfy.1,p.P674S|ENST00000202625,p.P674S|NM_198994,p.P674S	protein_coding, processed_transcript	uc002wfy.1	nonsynonymous SNV	exon13	c.C2020T	p.P674S	PQERASVQFDITPSKSGPRQLQVDL	PQERASVQFDITSSKSGPRQLQVDL	1.0	4.0	unscreened	-	1913_20:2413188-2413188 C>T_PQERASVQFDITSSKSGPRQLQVDL
10:71008330-71008330 G>T	0.0	1913	MELANOMA	-	-	-	-	HKDC1	ENST00000395086,p.R472S|uc001jpf.4,p.R472S|uc010qje.2,p.R335S|ENST00000354624,p.R472S|NM_025130,p.R472S	protein_coding, processed_transcript	uc010qje.2	nonsynonymous SNV	exon7	c.G1005T	p.R335S	ASRVQAQRKQIDRVLALFQLTREQL	ASRVQAQRKQIDSVLALFQLTREQL	4.0	3.0	unscreened	-	1913_10:71008330-71008330 G>T_ASRVQAQRKQIDSVLALFQLTREQL
12:7647890-7647890 C>T	0.0	1913	MELANOMA	-	-	-	-	CD163	ENST00000396620,p.G403R|NM_004244,p.G403R|NM_203416,p.G403R|ENST00000541972,p.G391R|ENST00000359156,p.G403R|uc001qsz.3,p.G403R|uc009zfw.2,p.G403R|uc001qta.3,p.G403R|ENST00000432237,p.G403R	retained_intron, protein_coding, processed_transcript	uc009zfw.2	nonsynonymous SNV	exon6	c.G1207A	p.G403R	QRLLGKVCDRGWGLKEADVVCRQLG	QRLLGKVCDRGWRLKEADVVCRQLG	2.0	9.0	unscreened	-	1913_12:7647890-7647890 C>T_QRLLGKVCDRGWRLKEADVVCRQLG
11:57003929-57003929 C>T	0.0	1913	MELANOMA	-	-	-	-	APLNR	uc001njo.3,p.D184N|NM_005161,p.D184N|ENST00000257254,p.D184N|ENST00000606794,p.D184N	protein_coding	uc001njo.3	nonsynonymous SNV	exon1	c.G550A	p.D184N	DLENTTKVQCYMDYSMVATVSSEWA	DLENTTKVQCYMNYSMVATVSSEWA	1.0	1.0	unscreened	-	1913_11:57003929-57003929 C>T_DLENTTKVQCYMNYSMVATVSSEWA
5:140589965-140589965 C>T	1.0	1913	MELANOMA	-	-	-	-	PCDHB12	ENST00000239450,p.P496S|NM_018932,p.P496S|uc011dak.2,p.P159S|ENST00000541609,p.P159S|uc003liz.3,p.P496S	protein_coding	uc011dak.2	nonsynonymous SNV	exon2	c.C475T	p.P159S	AQVNYSLLPSQDPHLPLASLVSINA	AQVNYSLLPSQDSHLPLASLVSINA	4.0	2.0	unscreened	-	1913_5:140589965-140589965 C>T_AQVNYSLLPSQDSHLPLASLVSINA
15:68631870-68631870 G>A	0.0	1913	MELANOMA	-	-	-	-	ITGA11	uc002ari.3,p.P415L|ENST00000315757,p.P415L|uc010bib.3,p.P415L|ENST00000423218,p.P415L|NM_001004439,p.P415L	retained_intron, protein_coding, processed_transcript	uc010bib.3	nonsynonymous SNV	exon11	c.C1244T	p.P415L	VIPLRESYLKEFPEELKNHGAYLGY	VIPLRESYLKEFLEELKNHGAYLGY	1.0	5.0	unscreened	-	1913_15:68631870-68631870 G>A_VIPLRESYLKEFLEELKNHGAYLGY
1:34498281-34498281 G>A	0.0	1913	MELANOMA	-	-	-	-	CSMD2	NM_001281956,p.T144I|uc001bxm.1,p.T144I|ENST00000373381,p.T144I|NM_052896,p.T104I|ENST00000241312,p.T104I|uc001bxn.1,p.T104I	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxn.1	nonsynonymous SNV	exon3	c.C311T	p.T104I	LRTRLTGFQLPATIVSAATTLSLRL	LRTRLTGFQLPAIIVSAATTLSLRL	1.0	1.0	unscreened	-	1913_1:34498281-34498281 G>A_LRTRLTGFQLPAIIVSAATTLSLRL
9:130502642-130502642 G>A	0.0	1913	MELANOMA	0	-	-	-	SH2D3C	ENST00000429553,p.R345W|ENST00000373274,p.R539W|NM_001252334,p.R631W|ENST00000373276,p.R631W|NM_001142531,p.R345W|NM_170600,p.R699W|NM_005489,p.R542W|uc004bsa.3,p.R542W|uc004bry.3,p.R541W|uc004bsb.3,p.R631W|NM_001142533,p.R541W|NM_001142532,p.R345W|uc004brz.4,p.R345W|ENST00000373277,p.R542W|ENST00000314830,p.R699W|NM_001142534,p.R539W|ENST00000420366,p.R541W|uc004bsc.3,p.R699W|uc011mak.2,p.R345W|uc010mxo.3,p.R539W	protein_coding, processed_transcript	uc011mak.2	nonsynonymous SNV	exon9	c.C1033T	p.R345W	AVMGALDMAQISRLEQTWVTLRQRH	AVMGALDMAQISWLEQTWVTLRQRH	5.0	1.0	unscreened	-	1913_9:130502642-130502642 G>A_AVMGALDMAQISWLEQTWVTLRQRH
11:58478183-58478183 G>A	0.0	1913	MELANOMA	-	-	-	-	GLYAT	uc001nnc.3,p.S123F|ENST00000344743,p.S123F|NM_201648,p.S123F|ENST00000278400,p.S123F|NM_005838,p.S123F|uc001nnb.3,p.S123F|ENST00000529732,p.S123F	retained_intron, protein_coding	uc001nnc.3	nonsynonymous SNV	exon5	c.C368T	p.S123F	LNEAIQNLAAIKSFKVKQTQRILYM	LNEAIQNLAAIKFFKVKQTQRILYM	1.0	8.0	unscreened	-	1913_11:58478183-58478183 G>A_LNEAIQNLAAIKFFKVKQTQRILYM
12:47172397-47172397 G>A	0.0	1913	MELANOMA	-	-	-	-	SLC38A4	uc001rpj.2,p.P294S|NM_018018,p.P294S|ENST00000266579,p.P294S|uc001rpi.2,p.P294S|ENST00000447411,p.P294S|NM_001143824,p.P294S	protein_coding	uc001rpj.2	nonsynonymous SNV	exon10	c.C880T	p.P294S	DVNFMMDYTHRNPAGLDENQAKGSL	DVNFMMDYTHRNSAGLDENQAKGSL	1.0	1.0	unscreened	-	1913_12:47172397-47172397 G>A_DVNFMMDYTHRNSAGLDENQAKGSL
10:27692238-27692238 A>C	0.0	1913	MELANOMA	-	-	-	-	PTCHD3	ENST00000438700,p.I420M|uc001itu.2,p.I420M|NM_001034842,p.I420M	protein_coding	uc001itu.2	nonsynonymous SNV	exon3	c.T1260G	p.I420M	IRNKMCVAAFGVISAFLAVVSGFGL	IRNKMCVAAFGVMSAFLAVVSGFGL	1.0	4.0	unscreened	-	1913_10:27692238-27692238 A>C_IRNKMCVAAFGVMSAFLAVVSGFGL
8:54142134-54142134 G>A	0.0	1913	MELANOMA	-	-	-	-	OPRK1	ENST00000520287,p.P289L|uc003xrh.1,p.P289L|uc010lyc.1,p.P200L|NM_000912,p.P289L|NM_001282904,p.P200L|uc003xri.1,p.P289L|ENST00000265572,p.P289L|ENST00000524278,p.P200L|uc022aup.1,p.P169L	protein_coding, nonsense_mediated_decay	uc022aup.1	nonsynonymous SNV	exon3	c.C506T	p.P169L	LVVVAVFVVCWTPIHIFILVEALGS	LVVVAVFVVCWTLIHIFILVEALGS	1.0	4.0	unscreened	-	1913_8:54142134-54142134 G>A_LVVVAVFVVCWTLIHIFILVEALGS
19:54758772-54758772 C>T	0.0	1913	MELANOMA	-	-	-	-	LILRB5	uc002qez.3,p.A261T|uc002qex.3,p.A361T|uc002qey.3,p.A361T|NM_001081442,p.A361T|ENST00000450632,p.A352T|ENST00000345866,p.A261T|ENST00000449561,p.A361T|uc010yer.1,p.A352T|ENST00000316219,p.A361T|NM_006840,p.A361T|uc002qfa.1,p.A251T|NM_001081443,p.A261T	retained_intron, protein_coding	uc010yer.1	nonsynonymous SNV	exon6	c.G1054A	p.A352T	QIDTFFLTKEGAAHPPLCLKSKYQS	QIDTFFLTKEGATHPPLCLKSKYQS	1.0	6.0	unscreened	-	1913_19:54758772-54758772 C>T_QIDTFFLTKEGATHPPLCLKSKYQS
12:113355384-113355384 G>A	1.0	1913	MELANOMA	-	-	-	-	OAS1	ENST00000551241,p.G306E|ENST00000202917,p.G306E|uc001tub.3,p.G306E|uc001tud.3,p.G306E|NM_002534,p.G306E|NM_001032409,p.G306E|NM_016816,p.G306E|uc009zwf.3,p.G305E|ENST00000553152,p.G52E|ENST00000445409,p.G306E|ENST00000452357,p.G306E|uc001tuc.3,p.G306E	protein_coding, processed_transcript	uc009zwf.3	nonsynonymous SNV	exon5	c.G914A	p.G305E	PRPVILDPADPTGNLGGGDPKGWRQ	PRPVILDPADPTENLGGGDPKGWRQ	6.0	7.0	unscreened	-	1913_12:113355384-113355384 G>A_PRPVILDPADPTENLGGGDPKGWRQ
6:35211409-35211409 G>A	0.0	1913	MELANOMA	-	-	-	-	SCUBE3	ENST00000274938,p.E650K|uc003okf.1,p.E650K|ENST00000394681,p.E666K|NM_152753,p.E650K|uc003okh.1,p.E537K|uc003okg.1,p.E649K	protein_coding	uc003okh.1	nonsynonymous SNV	exon16	c.G1609A	p.E537K	SCPQGTYYHGQTEQCVPCPAGTFQE	SCPQGTYYHGQTKQCVPCPAGTFQE	4.0	9.0	unscreened	-	1913_6:35211409-35211409 G>A_SCPQGTYYHGQTKQCVPCPAGTFQE
13:35615294-35615294 G>A	0.0	1913	MELANOMA	-	-	ID=COSM75563;OCCURENCE=1(ovary)	2	NBEA	ENST00000400445,p.M173I|ENST00000540320,p.M173I|uc021ric.1,p.M173I|ENST00000310336,p.M173I|uc021rid.1,p.M173I|ENST00000379939,p.M173I|NM_015678,p.M173I	protein_coding, processed_transcript	uc021rid.1	nonsynonymous SNV	exon2	c.G519A	p.M173I	EQVLLKMSAVDDMIADLLVDMLGVL	EQVLLKMSAVDDIIADLLVDMLGVL	5.0	9.0	unscreened	-	1913_13:35615294-35615294 G>A_EQVLLKMSAVDDIIADLLVDMLGVL
2:196749347-196749347 C>T	0.0	1913	MELANOMA	-	-	-	-	DNAH7	ENST00000312428,p.E1909K|uc002utj.4,p.E1909K|NM_018897,p.E1909K	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon35	c.G5725A	p.E1909K	QTSSKALTVPFPEKGTIYDYQFVTE	QTSSKALTVPFPKKGTIYDYQFVTE	1.0	6.0	unscreened	-	1913_2:196749347-196749347 C>T_QTSSKALTVPFPKKGTIYDYQFVTE
19:54760194-54760194 C>T	0.0	1913	MELANOMA	-	-	-	-	LILRB5	uc002qey.3,p.E123K|uc002qex.3,p.E123K|ENST00000449561,p.E123K|NM_001081442,p.E123K|ENST00000316219,p.E123K|NM_006840,p.E123K	retained_intron, protein_coding	uc002qey.3	nonsynonymous SNV	exon4	c.G367A	p.E123K	DPLELVATGFYAEPTLLALPSPVVA	DPLELVATGFYAKPTLLALPSPVVA	1.0	7.0	unscreened	-	1913_19:54760194-54760194 C>T_DPLELVATGFYAKPTLLALPSPVVA
X:65409696-65409696 C>T	0.0	1913	MELANOMA	-	-	-	-	HEPH	ENST00000441993,p.P330S|NM_014799,p.P60S|ENST00000336279,p.P60S|ENST00000425114,p.P327S|ENST00000419594,p.P330S|uc004dwn.3,p.P330S|uc011mpa.2,p.P330S|NM_001282141,p.P330S|ENST00000343002,p.P327S|ENST00000519389,p.P381S|NM_138737,p.P381S|uc004dwo.3,p.P60S|uc010nkr.3,p.P330S|ENST00000374727,p.P330S|uc011moz.2,p.P381S|NM_001130860,p.P330S	retained_intron, protein_coding, nonsense_mediated_decay	uc011mpa.2	nonsynonymous SNV	exon5	c.C988T	p.P330S	TRGHHTDVANIFPATFVTAEMVPWE	TRGHHTDVANIFSATFVTAEMVPWE	1.0	9.0	unscreened	-	1913_X:65409696-65409696 C>T_TRGHHTDVANIFSATFVTAEMVPWE
20:43057089-43057089 G>A	0.0	1913	MELANOMA	-	-	-	-	HNF4A	NM_001287183,p.G390E|ENST00000316673,p.G393E|NM_175914,p.G393E|uc002xlv.4,p.G393E|NM_001258355,p.G408E|NM_000457,p.G415E|uc002xma.4,p.G415E|ENST00000316099,p.G415E|uc010ggq.4,p.G408E	protein_coding, nonsense_mediated_decay	uc010ggq.4	nonsynonymous SNV	exon10	c.G1223A	p.G408E	IVANTMPTHLSNGQMCEWPRPRGQA	IVANTMPTHLSNEQMCEWPRPRGQA	1.0	9.0	unscreened	-	1913_20:43057089-43057089 G>A_IVANTMPTHLSNEQMCEWPRPRGQA
6:144999562-144999562 T>G	1.0	1913	MELANOMA	-	-	-	-	UTRN	ENST00000367525,p.D24E	protein_coding, processed_transcript	ENST00000367525	nonsynonymous SNV	exon2	c.T72G	p.D24E	LTKFEKDIQAEIDAHNDIFKSIDGN	LTKFEKDIQAEIEAHNDIFKSIDGN	8.0	1.0	unscreened	-	1913_6:144999562-144999562 T>G_LTKFEKDIQAEIEAHNDIFKSIDGN
6:144999562-144999562 T>G	1.0	1913	MELANOMA	-	-	-	-	UTRN	uc003qkt.3,p.D2500E|NM_007124,p.D2500E|ENST00000367545,p.D2500E	protein_coding, processed_transcript	uc003qkt.3	nonsynonymous SNV	exon51	c.T7500G	p.D2500E	LKQQMQDIQAEIDAHNDIFKSIDGN	LKQQMQDIQAEIEAHNDIFKSIDGN	8.0	1.0	unscreened	-	1913_6:144999562-144999562 T>G_LKQQMQDIQAEIEAHNDIFKSIDGN
1:55070797-55070797 G>A	0.0	1913	MELANOMA	-	-	-	-	ACOT11	uc001cxm.2,p.E429K|ENST00000371316,p.E429K|ENST00000343744,p.E429K|NM_147161,p.E429K|uc001cxl.2,p.E429K|NM_015547,p.E429K|uc001cxj.2,p.E307K	protein_coding, processed_transcript	uc001cxm.2	nonsynonymous SNV	exon13	c.G1285A	p.E429K	TLEDDKFLSFHMEMVVHVDAAQAFL	TLEDDKFLSFHMKMVVHVDAAQAFL	2.0	9.0	unscreened	-	1913_1:55070797-55070797 G>A_TLEDDKFLSFHMKMVVHVDAAQAFL
19:20808211-20808211 G>A	1.0	1913	MELANOMA	-	-	-	-	ZNF626	ENST00000601440,p.P158S|ENST00000595405,p.P82S|uc002npb.1,p.P158S|NM_001076675,p.P158S|uc002npc.1,p.P82S	protein_coding	uc002npc.1	nonsynonymous SNV	exon2	c.C244T	p.P82S	QCDKYVKVLHQFPNSNGQKRGHTGK	QCDKYVKVLHQFSNSNGQKRGHTGK	6.0	9.0	unscreened	-	1913_19:20808211-20808211 G>A_QCDKYVKVLHQFSNSNGQKRGHTGK
8:68956771-68956771 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1673950,COSM1673951;OCCURENCE=2(haematopoietic_and_lymphoid_tissue)	1	PREX2	uc011lez.1,p.R232C|ENST00000288368,p.R297C|NM_024870,p.R297C|uc003xxv.1,p.R297C|NM_025170,p.R297C|uc003xxu.1,p.R297C	protein_coding, processed_transcript	uc011lez.1	nonsynonymous SNV	exon6	c.C694T	p.R232C	SKASTDGHRYLFRGRINTEVMEVEN	SKASTDGHRYLFCGRINTEVMEVEN	1.0	3.0	unscreened	-	1913_8:68956771-68956771 C>T_SKASTDGHRYLFCGRINTEVMEVEN
9:138377984-138377984 C>T	1.0	1913	MELANOMA	-	-	-	-	PPP1R26	uc004cfr.1,p.A543V|ENST00000401470,p.A543V|uc022bpi.1,p.A543V|ENST00000356818,p.A543V|ENST00000605286,p.A543V|ENST00000605660,p.A543V|ENST00000604351,p.A543V|NM_014811,p.A543V	protein_coding	uc022bpi.1	nonsynonymous SNV	exon1	c.C1628T	p.A543V	DDSIEQEIRTFLALKAQSGSLLARG	DDSIEQEIRTFLVLKAQSGSLLARG	6.0	7.0	unscreened	-	1913_9:138377984-138377984 C>T_DDSIEQEIRTFLVLKAQSGSLLARG
11:48328176-48328176 G>A	0.0	1913	MELANOMA	-	-	-	-	OR4S1	uc010rhu.2,p.M134I|NM_001004725,p.M134I|ENST00000319988,p.M134I	protein_coding	uc010rhu.2	nonsynonymous SNV	exon1	c.G402A	p.M134I	VAICRPLHYTAIMDCRKCGLLAGAS	VAICRPLHYTAIIDCRKCGLLAGAS	1.0	8.0	unscreened	-	1913_11:48328176-48328176 G>A_VAICRPLHYTAIIDCRKCGLLAGAS
6:41658742-41658742 C>T	1.0	1913	MELANOMA	-	-	ID=COSM1487749;OCCURENCE=1(breast)	1	TFEB	uc003oqx.2,p.E79K	retained_intron, protein_coding	uc003oqx.2	nonsynonymous SNV	exon3	c.G235A	p.E79K	LPVATTCAWGGVEGAVLPGESHILP	LPVATTCAWGGVKGAVLPGESHILP	6.0	6.0	unscreened	-	1913_6:41658742-41658742 C>T_LPVATTCAWGGVKGAVLPGESHILP
7:43351591-43351591 C>T	0.0	1913	MELANOMA	-	-	-	-	HECW1	NM_001287059,p.S86F|ENST00000453890,p.S86F|ENST00000395891,p.S86F|uc011kbi.1,p.S86F|uc003tie.1,p.S118F|uc003tid.1,p.S86F|NM_015052,p.S86F	protein_coding, processed_transcript	uc011kbi.1	nonsynonymous SNV	exon3	c.C257T	p.S86F	TSDSRSTLMVSSSYYSIGHSQDLVI	TSDSRSTLMVSSFYYSIGHSQDLVI	1.0	5.0	unscreened	-	1913_7:43351591-43351591 C>T_TSDSRSTLMVSSFYYSIGHSQDLVI
5:39308422-39308422 G>A	0.0	1913	MELANOMA	-	-	-	-	C9	uc003jlv.4,p.H384Y|NM_001737,p.H384Y|ENST00000263408,p.H384Y	retained_intron, protein_coding, processed_transcript	uc003jlv.4	nonsynonymous SNV	exon8	c.C1150T	p.H384Y	VELKDIKRCLGYHLDVSLAFSEISV	VELKDIKRCLGYYLDVSLAFSEISV	1.0	1.0	unscreened	-	1913_5:39308422-39308422 G>A_VELKDIKRCLGYYLDVSLAFSEISV
5:177690260-177690260 G>A	0.0	1913	MELANOMA	-	-	-	-	COL23A1	uc010jkt.2,p.A44V	protein_coding, processed_transcript	uc010jkt.2	nonsynonymous SNV	exon4	c.C131T	p.A44V	GLRGPLDLLGPGALLATLGKMAPGE	GLRGPLDLLGPGVLLATLGKMAPGE	1.0	9.0	unscreened	-	1913_5:177690260-177690260 G>A_GLRGPLDLLGPGVLLATLGKMAPGE
1:222801339-222801339 T>A	1.0	1913	MELANOMA	-	-	-	-	MIA3	ENST00000344922,p.D259E|uc009xea.1,p.D95E|NM_198551,p.D259E|ENST00000344441,p.D259E|ENST00000344507,p.D259E|uc001hnl.3,p.D259E	protein_coding, processed_transcript	uc009xea.1	nonsynonymous SNV	exon1	c.T285A	p.D95E	KTSNSSQVSNEQDKIDAYKLLKKEM	KTSNSSQVSNEQEKIDAYKLLKKEM	9.0	8.0	unscreened	-	1913_1:222801339-222801339 T>A_KTSNSSQVSNEQEKIDAYKLLKKEM
11:4968203-4968203 C>T	0.0	1913	MELANOMA	-	-	-	-	OR51A4	ENST00000380373,p.G43E|NM_001005329,p.G43E|uc010qys.2,p.G43E	protein_coding	uc010qys.2	nonsynonymous SNV	exon1	c.G128A	p.G43E	IPICSMYLIAILGNGTILFIIKTEP	IPICSMYLIAILENGTILFIIKTEP	1.0	1.0	unscreened	-	1913_11:4968203-4968203 C>T_IPICSMYLIAILENGTILFIIKTEP
3:124896629-124896629 T>C	0.0	1913	MELANOMA	-	-	-	-	SLC12A8	ENST00000393469,p.T194A|uc003ehw.4,p.T223A|uc003ehv.4,p.T194A|NM_024628,p.T194A|uc010hrz.1,p.T59A|ENST00000469902,p.T194A|ENST00000423114,p.T223A|NM_001195483,p.T194A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hrz.1	nonsynonymous SNV	exon4	c.A175G	p.T59A	LQLLLLFLLAVSTLDFVVGSFTHLD	LQLLLLFLLAVSALDFVVGSFTHLD	2.0	2.0	unscreened	-	1913_3:124896629-124896629 T>C_LQLLLLFLLAVSALDFVVGSFTHLD
7:141727455-141727455 C>T	0.0	1913	MELANOMA	-	-	-	-	MGAM	uc003vwy.3,p.H381Y|ENST00000549489,p.H381Y|ENST00000475668,p.H381Y|NM_004668,p.H381Y	retained_intron, protein_coding, processed_transcript	uc003vwy.3	nonsynonymous SNV	exon10	c.C1141T	p.H381Y	RPALPSYWALGFHLSRYEYGTLDNM	RPALPSYWALGFYLSRYEYGTLDNM	4.0	4.0	unscreened	-	1913_7:141727455-141727455 C>T_RPALPSYWALGFYLSRYEYGTLDNM
5:26886131-26886131 A>T	0.0	1913	MELANOMA	-	-	-	-	CDH9	NM_016279,p.F525Y|uc011cnv.1,p.F118Y|ENST00000231021,p.F525Y|uc003jgs.1,p.F525Y	retained_intron, protein_coding	uc011cnv.1	nonsynonymous SNV	exon3	c.T353A	p.F118Y	DKDDPPRGHKFFFEPVPEFTLNPNF	DKDDPPRGHKFFYEPVPEFTLNPNF	1.0	2.0	unscreened	-	1913_5:26886131-26886131 A>T_DKDDPPRGHKFFYEPVPEFTLNPNF
1:104160214-104160214 G>A	0.0	1913	MELANOMA	-	-	-	-	AMY2A	uc010ouq.1,p.G51E|uc001dut.3,p.G51E|NM_000699,p.G51E|ENST00000414303,p.G51E	protein_coding, processed_transcript	uc010ouq.1	nonsynonymous SNV	exon1	c.G152A	p.G51E	IALECERYLAPKGFGGVQVSPPNEN	IALECERYLAPKEFGGVQVSPPNEN	2.0	9.0	unscreened	-	1913_1:104160214-104160214 G>A_IALECERYLAPKEFGGVQVSPPNEN
6:96651561-96651561 C>T	0.0	1913	MELANOMA	-	-	-	-	FUT9	uc003pop.4,p.P177L|ENST00000302103,p.P177L|uc021zcw.1,p.P177L|NM_006581,p.P177L	protein_coding, processed_transcript	uc021zcw.1	nonsynonymous SNV	exon1	c.C530T	p.P177L	QVPYGFLTVSTNPFVFEVPSKEKLV	QVPYGFLTVSTNLFVFEVPSKEKLV	1.0	7.0	unscreened	-	1913_6:96651561-96651561 C>T_QVPYGFLTVSTNLFVFEVPSKEKLV
16:12136849-12136849 G>A	1.0	1913	MELANOMA	-	-	-	-	SNX29	uc002dbw.3,p.G115S|NM_032167,p.G115S|uc002dby.5,p.G115S|ENST00000566228,p.G115S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dby.5	nonsynonymous SNV	exon5	c.G343A	p.G115S	YSLRHIASDVGRGRAWLRCALNEHS	YSLRHIASDVGRSRAWLRCALNEHS	5.0	9.0	unscreened	-	1913_16:12136849-12136849 G>A_YSLRHIASDVGRSRAWLRCALNEHS
X:123554276-123554276 C>T	0.0	1913	MELANOMA	-	-	-	-	TENM1	uc004euj.3,p.G1616R|NM_001163279,p.G1622R|NM_001163278,p.G1623R|ENST00000371130,p.G1616R|ENST00000422452,p.G1623R|NM_014253,p.G1616R|uc010nqy.3,p.G1623R|uc011muj.2,p.G1622R	protein_coding, processed_transcript	uc011muj.2	nonsynonymous SNV	exon25	c.G4864A	p.G1622R	GGQVYWLTISSNGVLKRVSAQGYNL	GGQVYWLTISSNRVLKRVSAQGYNL	1.0	9.0	unscreened	-	1913_X:123554276-123554276 C>T_GGQVYWLTISSNRVLKRVSAQGYNL
15:77057768-77057768 G>T	1.0	1913	MELANOMA	-	-	-	-	SCAPER	NM_020843,p.S508Y|ENST00000563290,p.S508Y|ENST00000538941,p.S262Y|ENST00000324767,p.S508Y|ENST00000565970,p.S514Y|ENST00000564590,p.S514Y|NM_001145923,p.S262Y|uc002bbx.3,p.S262Y|uc002bbz.1,p.S379Y|uc002bcc.1,p.S508Y|uc002bca.1,p.S373Y|uc002bby.3,p.S508Y|uc002bcb.1,p.S514Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bcc.1	nonsynonymous SNV	exon13	c.C1523A	p.S508Y	DYEARESWRQNTSWGDIVEEEPARP	DYEARESWRQNTYWGDIVEEEPARP	6.0	2.0	unscreened	-	1913_15:77057768-77057768 G>T_DYEARESWRQNTYWGDIVEEEPARP
11:113287647-113287647 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1704562;OCCURENCE=1(skin)	-	DRD2	ENST00000544518,p.S156F|NM_000795,p.S157F|ENST00000362072,p.S157F|uc001pob.4,p.S157F|ENST00000346454,p.S157F|uc010rwv.2,p.S156F|NM_016574,p.S157F|uc001poa.4,p.S157F|uc001pnz.3,p.S157F|ENST00000542968,p.S157F|uc009yyr.1,p.S157F|ENST00000355319,p.S157F|ENST00000538967,p.S157F|ENST00000543292,p.S157F	retained_intron, protein_coding, processed_transcript	uc010rwv.2	nonsynonymous SNV	exon3	c.C467T	p.S156F	RYSSKRRVTVMISIVWVLSFTISCP	RYSSKRRVTVMIFIVWVLSFTISCP	4.0	9.0	unscreened	-	1913_11:113287647-113287647 G>A_RYSSKRRVTVMIFIVWVLSFTISCP
1:33237613-33237613 G>A	1.0	1913	MELANOMA	-	-	-	-	KIAA1522	ENST00000373481,p.E897K|NM_001198972,p.E886K|uc010ohm.1,p.E897K|ENST00000373480,p.E886K|NM_020888,p.E945K|uc001bvv.2,p.E886K|uc001bvu.1,p.E945K|ENST00000401073,p.E945K	retained_intron, protein_coding	uc010ohm.1	nonsynonymous SNV	exon6	c.G2689A	p.E897K	AVRLKACSLAASEGLSSAQPNGPPE	AVRLKACSLAASKGLSSAQPNGPPE	5.0	9.0	unscreened	-	1913_1:33237613-33237613 G>A_AVRLKACSLAASKGLSSAQPNGPPE
6:31541252-31541252 G>A	0.0	1913	MELANOMA	-	-	-	-	LTA	ENST00000418386,p.E134K|uc011dnu.2,p.E134K|NM_000595,p.E134K|NM_001159740,p.E134K|uc003nue.2,p.E134K|ENST00000454783,p.E134K	retained_intron, protein_coding	uc011dnu.2	nonsynonymous SNV	exon4	c.G400A	p.E134K	PKATSSPLYLAHEVQLFSSQYPFHV	PKATSSPLYLAHKVQLFSSQYPFHV	1.0	9.0	unscreened	-	1913_6:31541252-31541252 G>A_PKATSSPLYLAHKVQLFSSQYPFHV
6:130467293-130467293 C>T	0.0	1913	MELANOMA	-	-	-	-	SAMD3	ENST00000457563,p.D377N|uc003qbx.4,p.D353N|uc003qbw.4,p.D353N|ENST00000439090,p.D353N|uc031spp.1,p.D377N|NM_001258275,p.D353N|NM_001277185,p.D377N|ENST00000437477,p.D353N|NM_001017373,p.D353N|ENST00000368134,p.D353N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031spp.1	nonsynonymous SNV	exon9	c.G1129A	p.D377N	QMFREFQLLTRTDIYKKTRHILESY	QMFREFQLLTRTNIYKKTRHILESY	1.0	2.0	unscreened	-	1913_6:130467293-130467293 C>T_QMFREFQLLTRTNIYKKTRHILESY
6:89977463-89977463 G>A	0.0	1913	MELANOMA	-	-	-	-	GABRR2	uc011dzx.2,p.S125F|NM_002043,p.S224F|ENST00000602399,p.S249F|uc003pnb.3,p.S224F|ENST00000402938,p.S224F	protein_coding	uc011dzx.2	nonsynonymous SNV	exon3	c.C374T	p.S125F	NGDESLKTDEKISLSQFLIQKFHTT	NGDESLKTDEKIFLSQFLIQKFHTT	4.0	1.0	unscreened	-	1913_6:89977463-89977463 G>A_NGDESLKTDEKIFLSQFLIQKFHTT
7:18630082-18630082 C>T	1.0	1913	MELANOMA	-	-	-	-	HDAC9	ENST00000417496,p.L169F|NM_001204148,p.L99F|NM_001204144,p.L169F|NM_178425,p.L130F|NM_058176,p.L127F|NM_178423,p.L127F|ENST00000441986,p.L96F|ENST00000432645,p.L127F|ENST00000428307,p.L127F|uc003sue.3,p.L127F|ENST00000405010,p.L127F|uc011jyf.2,p.L96F|NM_014707,p.L127F|uc010kud.2,p.L130F|uc003suj.3,p.L130F|ENST00000456174,p.L99F|ENST00000441542,p.L130F|ENST00000406072,p.L158F|uc003suh.3,p.L127F|ENST00000524023,p.L96F|NM_001204147,p.L96F|ENST00000406451,p.L127F|uc011jyb.2,p.L127F|NM_001204145,p.L127F|ENST00000401921,p.L130F|uc011jya.2,p.L169F|uc003sui.3,p.L130F|uc003sua.1,p.L149F|uc011jyd.2,p.L127F|uc011jye.2,p.L99F|uc011jyc.2,p.L130F|uc003sud.2,p.L127F|ENST00000413380,p.L130F|NM_001204146,p.L130F|uc003suf.2,p.L158F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011jyf.2	nonsynonymous SNV	exon3	c.C286T	p.L96F	VERHRREQQLPPLRGKDRGRERAVA	VERHRREQQLPPFRGKDRGRERAVA	6.0	6.0	unscreened	-	1913_7:18630082-18630082 C>T_VERHRREQQLPPFRGKDRGRERAVA
1:17292606-17292606 G>A	1.0	1913	MELANOMA	-	-	-	-	CROCC	ENST00000375541,p.S1563N|NM_014675,p.S1563N|uc001azu.2,p.S866N|uc001azt.2,p.S1563N	protein_coding, processed_transcript	uc001azu.2	nonsynonymous SNV	exon16	c.G2597A	p.S866N	SRARQLQKAVAESEEARRSVDGRLS	SRARQLQKAVAENEEARRSVDGRLS	8.0	3.0	unscreened	-	1913_1:17292606-17292606 G>A_SRARQLQKAVAENEEARRSVDGRLS
2:239054374-239054374 C>T	0.0	1913	MELANOMA	-	-	-	-	KLHL30	NM_198582,p.P351S|ENST00000305959,p.P333S|uc002vxr.2,p.P351S|ENST00000409223,p.P351S	protein_coding	uc002vxr.2	nonsynonymous SNV	exon5	c.C1051T	p.P351S	TDTWSTTQAWCFPLKEASWKPVAPM	TDTWSTTQAWCFSLKEASWKPVAPM	1.0	8.0	unscreened	-	1913_2:239054374-239054374 C>T_TDTWSTTQAWCFSLKEASWKPVAPM
8:27891144-27891144 G>A	0.0	1913	MELANOMA	-	-	-	-	NUGGC	ENST00000341513,p.S561F|NM_001010906,p.S561F|ENST00000413272,p.S561F|uc003xgm.4,p.S561F	protein_coding	uc003xgm.4	nonsynonymous SNV	exon14	c.C1682T	p.S561F	LKAVCLKNGIYASRTLARIDLNEAL	LKAVCLKNGIYAFRTLARIDLNEAL	1.0	6.0	unscreened	-	1913_8:27891144-27891144 G>A_LKAVCLKNGIYAFRTLARIDLNEAL
5:170236628-170236628 C>T	0.0	1913	MELANOMA	-	-	-	-	GABRP	ENST00000518525,p.P297S|ENST00000519598,p.P297S|uc003mau.3,p.P297S|ENST00000265294,p.P297S|NM_014211,p.P297S	retained_intron, protein_coding	uc003mau.3	nonsynonymous SNV	exon9	c.C889T	p.P297S	MTTLMIGSRTSLPNTNCFIKAIDVY	MTTLMIGSRTSLSNTNCFIKAIDVY	1.0	9.0	unscreened	-	1913_5:170236628-170236628 C>T_MTTLMIGSRTSLSNTNCFIKAIDVY
19:52941230-52941230 C>T	0.0	1913	MELANOMA	-	-	-	-	ZNF534	ENST00000433050,p.L173F|NM_001143939,p.L186F|uc002pzl.3,p.L173F|ENST00000332323,p.L186F|NM_001143938,p.L173F|uc002pzk.3,p.L186F	protein_coding	uc002pzl.3	nonsynonymous SNV	exon4	c.C517T	p.L173F	NNYRNDFLFSTLLPQEQKVHIREKP	NNYRNDFLFSTLFPQEQKVHIREKP	1.0	5.0	unscreened	-	1913_19:52941230-52941230 C>T_NNYRNDFLFSTLFPQEQKVHIREKP
5:176942692-176942692 G>A	1.0	1913	MELANOMA	-	-	-	-	DDX41	ENST00000504781,p.P102S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000504781	nonsynonymous SNV	exon4	c.C304T	p.P102S	PPPIKSFKEMKFPAVSSSATCRGSA	PPPIKSFKEMKFSAVSSSATCRGSA	10.0	3.0	unscreened	-	1913_5:176942692-176942692 G>A_PPPIKSFKEMKFSAVSSSATCRGSA
11:67176554-67176554 C>T	0.0	1913	MELANOMA	-	-	-	-	TBC1D10C	NM_001256508,p.P250L|uc001okz.4,p.P250L|ENST00000526387,p.P250L	retained_intron, protein_coding, nonsense_mediated_decay	uc001okz.4	nonsynonymous SNV	exon8	c.C749T	p.P250L	RGLPWPPGDTGSPSSHPPRAAAGGG	RGLPWPPGDTGSLSSHPPRAAAGGG	4.0	9.0	unscreened	-	1913_11:67176554-67176554 C>T_RGLPWPPGDTGSLSSHPPRAAAGGG
12:130941069-130941069 C>T	0.0	1913	MELANOMA	-	-	-	-	RIMBP2	NM_015347,p.M93I|uc001uil.2,p.M93I|ENST00000261655,p.M93I	retained_intron, protein_coding, nonsense_mediated_decay	uc001uil.2	nonsynonymous SNV	exon4	c.G279A	p.M93I	ISTAPSKPFPQFMNGLATSLGKGQE	ISTAPSKPFPQFINGLATSLGKGQE	1.0	8.0	unscreened	-	1913_12:130941069-130941069 C>T_ISTAPSKPFPQFINGLATSLGKGQE
19:1979949-1979949 C>T	1.0	1913	MELANOMA	-	-	-	-	CSNK1G2	NM_001319,p.P376S|ENST00000255641,p.P376S|uc002lul.4,p.P376S|uc010dsu.3,p.P328S	retained_intron, protein_coding, processed_transcript	uc010dsu.3	nonsynonymous SNV	exon11	c.C982T	p.P328S	LNSTNGELNADDPTAGHSNAPITAP	LNSTNGELNADDSTAGHSNAPITAP	9.0	1.0	unscreened	-	1913_19:1979949-1979949 C>T_LNSTNGELNADDSTAGHSNAPITAP
1:57349206-57349206 T>A	0.0	1913	MELANOMA	-	-	-	-	C8A	ENST00000361249,p.L236H|NM_000562,p.L236H|uc001cyo.2,p.L236H	protein_coding	uc001cyo.2	nonsynonymous SNV	exon6	c.T707A	p.L236H	GISSEFYDNANDLLSKVKKDKSDSF	GISSEFYDNANDHLSKVKKDKSDSF	1.0	9.0	unscreened	-	1913_1:57349206-57349206 T>A_GISSEFYDNANDHLSKVKKDKSDSF
3:47618546-47618546 G>A	1.0	1913	MELANOMA	-	-	-	-	CSPG5	NM_001206943,p.P324S|uc021wxi.1,p.P186S|ENST00000383738,p.P324S|uc011bbb.2,p.P186S|uc003cro.4,p.P324S|NM_001206944,p.P324S|uc021wxh.1,p.P324S|uc003crn.3,p.P186S|NM_001206945,p.P186S|uc003crp.4,p.P324S|NM_001206942,p.P186S|NM_006574,p.P324S|ENST00000264723,p.P324S|ENST00000456150,p.P186S	protein_coding, processed_transcript	uc021wxi.1	nonsynonymous SNV	exon2	c.C556T	p.P186S	GTGQPTSRWHAVPPQHTLGSVPGSS	GTGQPTSRWHAVSPQHTLGSVPGSS	3.0	8.0	unscreened	-	1913_3:47618546-47618546 G>A_GTGQPTSRWHAVSPQHTLGSVPGSS
1:245848821-245848821 G>A	0.0	1913	MELANOMA	-	-	ID=COSM2051724,COSM2051725;OCCURENCE=1(large_intestine)	-	KIF26B	uc001ibh.1,p.A88T|NM_018012,p.A846T|ENST00000366518,p.A465T|ENST00000407071,p.A846T|uc001ibf.1,p.A846T|uc001ibg.1,p.A464T	retained_intron, protein_coding, processed_transcript	uc001ibh.1	nonsynonymous SNV	exon3	c.G262A	p.A88T	HTRATVDPDFPIAHLSSDPDYSSSS	HTRATVDPDFPITHLSSDPDYSSSS	4.0	1.0	unscreened	-	1913_1:245848821-245848821 G>A_HTRATVDPDFPITHLSSDPDYSSSS
4:170347368-170347368 G>A	1.0	1913	MELANOMA	-	-	-	-	NEK1	NM_001199399,p.T871I|NM_001199397,p.T968I|uc003ise.2,p.T924I|uc003isf.2,p.T871I|uc003isc.2,p.T896I|ENST00000507142,p.T968I|ENST00000510533,p.T896I|NM_012224,p.T940I|ENST00000512193,p.T871I|uc003isb.2,p.T940I|ENST00000439128,p.T940I|ENST00000511633,p.T924I|NM_001199398,p.T924I|NM_001199400,p.T896I|uc003isd.2,p.T968I	retained_intron, protein_coding, nonsense_mediated_decay	uc003isf.2	nonsynonymous SNV	exon27	c.C2612T	p.T871I	KETKETQSADRITIQENEVSEDGVS	KETKETQSADRIIIQENEVSEDGVS	6.0	9.0	unscreened	-	1913_4:170347368-170347368 G>A_KETKETQSADRIIIQENEVSEDGVS
1:177133697-177133697 C>T	1.0	1913	MELANOMA	-	-	-	-	ASTN1	uc009wwx.1,p.S39N|uc001glb.1,p.S39N|ENST00000367654,p.S39N|uc001gld.1,p.S39N|uc001glc.3,p.S39N|NM_004319,p.S39N|NM_001286164,p.S39N|ENST00000367657,p.S39N|ENST00000424564,p.S39N|ENST00000361833,p.S39N|NM_207108,p.S39N	protein_coding, processed_transcript	uc009wwx.1	nonsynonymous SNV	exon1	c.G116A	p.S39N	VDPSKELECKLKSITVSALPFLREN	VDPSKELECKLKNITVSALPFLREN	5.0	9.0	unscreened	-	1913_1:177133697-177133697 C>T_VDPSKELECKLKNITVSALPFLREN
2:179477226-179477226 C>T	1.0	1913	MELANOMA	-	-	-	-	TTN	NM_133437,p.E7803K|NM_133432,p.E7736K|uc031rqd.1,p.E15035K|ENST00000460472,p.E7611K|ENST00000589042,p.E16676K|uc021vsy.2,p.E14108K|ENST00000359218,p.E7736K|NM_133378,p.E14108K|ENST00000342175,p.E7803K|NM_001256850,p.E15035K|uc021vsz.2,p.E7803K|uc021vtb.2,p.E7611K|ENST00000591111,p.E15035K|ENST00000342992,p.E14108K|uc031rqc.1,p.E16676K|uc021vta.2,p.E7736K|NM_003319,p.E7611K|NM_001267550,p.E16676K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon216	c.G45103A	p.E15035K	TKNTADLKWTVPEKDGGSPITNYIV	TKNTADLKWTVPKKDGGSPITNYIV	2.0	6.0	unscreened	-	1913_2:179477226-179477226 C>T_TKNTADLKWTVPKKDGGSPITNYIV
7:138555934-138555934 C>T	1.0	1913	MELANOMA	-	-	-	2	KIAA1549	uc011kqj.2,p.R1507Q|NM_001164665,p.R1507Q|NM_020910,p.R1507Q|ENST00000242365,p.R1457Q|ENST00000440172,p.R1507Q|uc011kql.2,p.R1507Q|uc011kqk.2,p.R291Q|uc011kqi.2,p.R291Q|ENST00000422774,p.R1507Q	protein_coding	uc011kql.2	nonsynonymous SNV	exon13	c.G4520A	p.R1507Q	PAPPVQRPSPADRVAESNKINKEIQ	PAPPVQRPSPADQVAESNKINKEIQ	5.0	6.0	unscreened	-	1913_7:138555934-138555934 C>T_PAPPVQRPSPADQVAESNKINKEIQ
3:49932644-49932644 G>A	0.0	1913	MELANOMA	-	-	-	-	MST1R	NM_002447,p.P1076L|ENST00000296474,p.P1076L|uc011bdc.2,p.P1027L|ENST00000344206,p.P1027L|NM_001244937,p.P1027L|uc003cxy.4,p.P1076L|uc031rzw.1,p.P970L	retained_intron, protein_coding, nonsense_mediated_decay	uc031rzw.1	nonsynonymous SNV	exon12	c.C2909T	p.P970L	SALLAEVKDVLIPHERVVTHSDRVI	SALLAEVKDVLILHERVVTHSDRVI	3.0	8.0	unscreened	-	1913_3:49932644-49932644 G>A_SALLAEVKDVLILHERVVTHSDRVI
11:55595149-55595149 G>A	0.0	1913	MELANOMA	-	-	-	-	OR5L2	uc001nhy.1,p.G152E|NM_001004739,p.G152E|ENST00000378397,p.G152E	protein_coding	uc001nhy.1	nonsynonymous SNV	exon1	c.G455A	p.G152E	LRVELTSCCYFCGTVCSLIHSSLAL	LRVELTSCCYFCETVCSLIHSSLAL	1.0	9.0	unscreened	-	1913_11:55595149-55595149 G>A_LRVELTSCCYFCETVCSLIHSSLAL
9:37719093-37719093 G>A	0.0	1913	MELANOMA	-	-	-	-	FRMPD1	uc011lqn.2,p.E15K|ENST00000541302,p.E15K	protein_coding	uc011lqn.2	nonsynonymous SNV	exon2	c.G43A	p.E15K	EVGGVPKSSFLTEEKRARLKTNPVK	EVGGVPKSSFLTKEKRARLKTNPVK	1.0	9.0	unscreened	-	1913_9:37719093-37719093 G>A_EVGGVPKSSFLTKEKRARLKTNPVK
13:33635837-33635837 G>A	0.0	1913	MELANOMA	-	-	-	-	KL	NM_004795,p.G874E|uc001uus.3,p.G874E|ENST00000380099,p.G874E	protein_coding, processed_transcript	uc001uus.3	nonsynonymous SNV	exon4	c.G2621A	p.G874E	KYGDLPMYIISNGIDDGLHAEDDQL	KYGDLPMYIISNEIDDGLHAEDDQL	1.0	9.0	unscreened	-	1913_13:33635837-33635837 G>A_KYGDLPMYIISNEIDDGLHAEDDQL
11:56185323-56185323 G>A	0.0	1913	MELANOMA	-	-	-	-	OR5R1	ENST00000312253,p.P129L|NM_001004744,p.P129L|uc010rji.2,p.P129L	protein_coding	uc010rji.2	nonsynonymous SNV	exon1	c.C386T	p.P129L	SMAYDCYVAICSPLHYSTLMSRRVC	SMAYDCYVAICSLLHYSTLMSRRVC	1.0	7.0	unscreened	-	1913_11:56185323-56185323 G>A_SMAYDCYVAICSLLHYSTLMSRRVC
12:20807112-20807112 G>A	0.0	1913	MELANOMA	-	-	-	-	PDE3A	NM_001244683,p.E731K|uc021qwa.1,p.E731K|uc001reh.2,p.E1053K|NM_000921,p.E1053K|ENST00000359062,p.E1053K	retained_intron, protein_coding, processed_transcript	uc021qwa.1	nonsynonymous SNV	exon14	c.G2191A	p.E731K	EEEEEAPAPNEEETCENNESPKKKT	EEEEEAPAPNEEKTCENNESPKKKT	3.0	9.0	unscreened	-	1913_12:20807112-20807112 G>A_EEEEEAPAPNEEKTCENNESPKKKT
11:5841842-5841842 G>A	0.0	1913	MELANOMA	-	-	-	-	OR52N2	NM_001005174,p.E93K|uc010qzp.2,p.E93K|ENST00000317037,p.E93K	protein_coding	uc010qzp.2	nonsynonymous SNV	exon1	c.G277A	p.E93K	PNMLCIFWFNLKEIDFNACLAQMFF	PNMLCIFWFNLKKIDFNACLAQMFF	1.0	7.0	unscreened	-	1913_11:5841842-5841842 G>A_PNMLCIFWFNLKKIDFNACLAQMFF
7:43477638-43477638 G>A	0.0	1913	MELANOMA	-	-	-	-	HECW1	uc011kbi.1,p.E280K|NM_015052,p.E280K|ENST00000395891,p.E280K|ENST00000453890,p.E280K|uc003tid.1,p.E280K|uc003tie.1,p.E312K|NM_001287059,p.E280K	protein_coding, processed_transcript	uc011kbi.1	nonsynonymous SNV	exon8	c.G838A	p.E280K	QFSFVSLPTDVLEIEVKDKFAKSRP	QFSFVSLPTDVLKIEVKDKFAKSRP	1.0	7.0	unscreened	-	1913_7:43477638-43477638 G>A_QFSFVSLPTDVLKIEVKDKFAKSRP
8:67064807-67064807 C>A	0.0	1913	MELANOMA	-	-	-	-	TRIM55	NM_184085,p.S394Y|NM_184086,p.S394Y|uc003xvu.3,p.S394Y|NM_033058,p.S394Y|ENST00000353317,p.S394Y|ENST00000276573,p.S394Y|ENST00000315962,p.S394Y|uc003xvw.3,p.S394Y|uc003xvv.3,p.S394Y	retained_intron, protein_coding	uc003xvw.3	nonsynonymous SNV	exon8	c.C1181A	p.S394Y	VELQAAPGALPVSSPEPPPALPPAA	VELQAAPGALPVYSPEPPPALPPAA	1.0	5.0	unscreened	-	1913_8:67064807-67064807 C>A_VELQAAPGALPVYSPEPPPALPPAA
1:205548940-205548940 G>C	0.0	1913	MELANOMA	-	-	-	-	MFSD4	NM_181644,p.V98L|uc010prk.2,p.V98L|ENST00000539267,p.V98L|uc001hcv.4,p.V98L|ENST00000536357,p.V98L|uc010prm.2,p.V43L|ENST00000367147,p.V98L	protein_coding, processed_transcript	uc010prm.2	nonsynonymous SNV	exon1	c.G127C	p.V43L	FTSSLAISLVFAVIPFCRDVKVLAS	FTSSLAISLVFALIPFCRDVKVLAS	3.0	1.0	unscreened	-	1913_1:205548940-205548940 G>C_FTSSLAISLVFALIPFCRDVKVLAS
X:84561251-84561251 C>T	0.0	1913	MELANOMA	-	-	-	-	POF1B	ENST00000262753,p.R418K|NM_024921,p.R418K|uc004eer.2,p.R418K|uc004ees.3,p.R418K|ENST00000373145,p.R418K	protein_coding, nonsense_mediated_decay	uc004ees.3	nonsynonymous SNV	exon12	c.G1253A	p.R418K	LSLRHTLSDMEYRLKELEYCKRNLE	LSLRHTLSDMEYKLKELEYCKRNLE	1.0	9.0	unscreened	-	1913_X:84561251-84561251 C>T_LSLRHTLSDMEYKLKELEYCKRNLE
20:50255923-50255923 G>A	0.0	1913	MELANOMA	-	-	-	-	ATP9A	ENST00000402822,p.P422S|uc010gih.1,p.P407S|uc002xwg.1,p.P543S|ENST00000311637,p.P407S|ENST00000338821,p.P543S|NM_006045,p.P543S	protein_coding, processed_transcript	uc010gih.1	nonsynonymous SNV	exon10	c.C1219T	p.P407S	DQILNFTILQIFPFTYESKRMGIIV	DQILNFTILQIFSFTYESKRMGIIV	1.0	4.0	unscreened	-	1913_20:50255923-50255923 G>A_DQILNFTILQIFSFTYESKRMGIIV
12:52965177-52965177 T>G	0.0	1913	MELANOMA	-	-	-	-	KRT74	ENST00000549343,p.K270T|ENST00000305620,p.K270T|NM_175053,p.K270T|uc001sap.1,p.K270T	retained_intron, protein_coding	uc001sap.1	nonsynonymous SNV	exon4	c.A809C	p.K270T	KVELQAKVDSLDKEIKFLKCLYDAE	KVELQAKVDSLDTEIKFLKCLYDAE	1.0	1.0	unscreened	-	1913_12:52965177-52965177 T>G_KVELQAKVDSLDTEIKFLKCLYDAE
12:13240189-13240189 C>T	0.0	1913	MELANOMA	-	-	ID=COSM226709;OCCURENCE=1(skin)	-	GSG1	NM_153823,p.G179R|uc001rbn.3,p.G215R|ENST00000432710,p.G192R|ENST00000337630,p.G179R|uc001rbp.3,p.G192R|uc001rbj.3,p.G179R|NM_001206842,p.G192R|ENST00000324458,p.G215R|NM_001080555,p.G215R	protein_coding	uc001rbp.3	nonsynonymous SNV	exon5	c.G574A	p.G192R	FAAVSSVLSGLLGMVAHMMYSQVFQ	FAAVSSVLSGLLRMVAHMMYSQVFQ	1.0	1.0	unscreened	-	1913_12:13240189-13240189 C>T_FAAVSSVLSGLLRMVAHMMYSQVFQ
17:38857481-38857481 C>T	0.0	1913	MELANOMA	-	-	-	-	KRT24	ENST00000264651,p.D256N|uc002hvd.3,p.D256N|NM_019016,p.D256N	protein_coding	uc002hvd.3	nonsynonymous SNV	exon3	c.G766A	p.D256N	VEADINGLRKVLDDLTMTRSDLEMQ	VEADINGLRKVLNDLTMTRSDLEMQ	1.0	9.0	unscreened	-	1913_17:38857481-38857481 C>T_VEADINGLRKVLNDLTMTRSDLEMQ
11:4967720-4967720 C>T	0.0	1913	MELANOMA	-	-	-	-	OR51A4	NM_001005329,p.G204E|uc010qys.2,p.G204E|ENST00000380373,p.G204E	protein_coding	uc010qys.2	nonsynonymous SNV	exon1	c.G611A	p.G204E	SDNRIDVIYGFFGALCLMVDFILIA	SDNRIDVIYGFFEALCLMVDFILIA	1.0	2.0	unscreened	-	1913_11:4967720-4967720 C>T_SDNRIDVIYGFFEALCLMVDFILIA
11:4976333-4976333 C>T	0.0	1913	MELANOMA	-	-	-	-	OR51A2	uc010qyt.2,p.G204E|ENST00000380371,p.G204E|NM_001004748,p.G204E	protein_coding	uc010qyt.2	nonsynonymous SNV	exon1	c.G611A	p.G204E	SDNRIDVIYGFFGALCLMVDFILIA	SDNRIDVIYGFFEALCLMVDFILIA	1.0	2.0	unscreened	-	1913_11:4976333-4976333 C>T_SDNRIDVIYGFFEALCLMVDFILIA
1:34112305-34112305 G>A	0.0	1913	MELANOMA	-	-	-	-	CSMD2	NM_052896,p.L1533F|uc001bxo.1,p.L446F|ENST00000373380,p.L446F|ENST00000373381,p.L1573F|uc001bxn.1,p.L1533F|NM_001281956,p.L1573F|uc001bxm.1,p.L1573F|ENST00000241312,p.L1533F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxo.1	nonsynonymous SNV	exon8	c.C1336T	p.L446F	PGRIESSSNSLFLAFRSDASVSNAG	PGRIESSSNSLFFAFRSDASVSNAG	1.0	1.0	unscreened	-	1913_1:34112305-34112305 G>A_PGRIESSSNSLFFAFRSDASVSNAG
16:78064349-78064349 C>T	0.0	1913	MELANOMA	-	-	-	-	CLEC3A	ENST00000299642,p.L78F|NM_005752,p.L78F|ENST00000575655,p.L69F|uc002ffh.5,p.L78F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002ffh.5	nonsynonymous SNV	exon3	c.C232T	p.L78F	ALKEIQALQTVCLRGTKVHKKCYLA	ALKEIQALQTVCFRGTKVHKKCYLA	1.0	2.0	unscreened	-	1913_16:78064349-78064349 C>T_ALKEIQALQTVCFRGTKVHKKCYLA
6:29141693-29141693 C>T	0.0	1913	MELANOMA	-	-	-	-	OR2J2	uc011dlm.2,p.S94L|NM_030905,p.S94L|ENST00000377167,p.S94L	protein_coding	uc011dlm.2	nonsynonymous SNV	exon1	c.C281T	p.S94L	LLVNLRGPEKTISYAGCMVQLYFVL	LLVNLRGPEKTILYAGCMVQLYFVL	1.0	2.0	unscreened	-	1913_6:29141693-29141693 C>T_LLVNLRGPEKTILYAGCMVQLYFVL
1:34663227-34663227 C>T	0.0	1913	MELANOMA	-	-	-	-	C1orf94	NM_001134734,p.S241F|ENST00000488417,p.S241F|uc001bxt.3,p.S241F|NM_032884,p.S51F|uc001bxs.4,p.S51F|ENST00000373374,p.S51F	protein_coding	uc001bxt.3	nonsynonymous SNV	exon2	c.C722T	p.S241F	LGDSNLQVSKLLSQFPLKSTETSKV	LGDSNLQVSKLLFQFPLKSTETSKV	1.0	5.0	unscreened	-	1913_1:34663227-34663227 C>T_LGDSNLQVSKLLFQFPLKSTETSKV
1:16378237-16378237 C>G	0.0	1913	MELANOMA	-	-	-	-	CLCNKB	ENST00000375679,p.L444V|uc021ogl.1,p.L91V|NM_001165945,p.L275V|uc001axy.5,p.L275V|ENST00000375667,p.L275V|NM_000085,p.L444V|uc001axx.5,p.L444V	protein_coding	uc021ogl.1	nonsynonymous SNV	exon3	c.C271G	p.L91V	YGAAIGRLFGETLSFIFPEGIVAGG	YGAAIGRLFGETVSFIFPEGIVAGG	1.0	1.0	unscreened	-	1913_1:16378237-16378237 C>G_YGAAIGRLFGETVSFIFPEGIVAGG
3:52437237-52437237 C>T	1.0	1913	MELANOMA	-	-	-	1	BAP1	NM_004656,p.V603I|ENST00000460680,p.V603I|uc003ddx.4,p.V603I|ENST00000478368,p.V104I|ENST00000296288,p.V585I	retained_intron, protein_coding, nonsense_mediated_decay	uc003ddx.4	nonsynonymous SNV	exon14	c.G1807A	p.V603I	GSQGSSSPVEKEVVEATDSREKTGM	GSQGSSSPVEKEIVEATDSREKTGM	10.0	2.0	unscreened	-	1913_3:52437237-52437237 C>T_GSQGSSSPVEKEIVEATDSREKTGM
2:179463960-179463960 C>T	0.0	1913	MELANOMA	-	-	-	-	TTN	uc031rqd.1,p.E17213K|NM_001256850,p.E17213K|uc021vtb.2,p.E9789K|ENST00000342992,p.E16286K|ENST00000359218,p.E9914K|uc021vsy.2,p.E16286K|uc021vsz.2,p.E9981K|NM_133378,p.E16286K|ENST00000589042,p.E18854K|uc021vta.2,p.E9914K|ENST00000342175,p.E9981K|NM_133437,p.E9981K|ENST00000591111,p.E17213K|NM_001267550,p.E18854K|NM_133432,p.E9914K|NM_003319,p.E9789K|ENST00000460472,p.E9789K|uc031rqc.1,p.E18854K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon240	c.G51637A	p.E17213K	CTYTIPKLLEGHEYVFRIMAQNKYG	CTYTIPKLLEGHKYVFRIMAQNKYG	2.0	6.0	unscreened	-	1913_2:179463960-179463960 C>T_CTYTIPKLLEGHKYVFRIMAQNKYG
9:113308512-113308512 C>T	0.0	1913	MELANOMA	-	-	-	-	SVEP1	uc004bev.3,p.M11I	protein_coding, processed_transcript	uc004bev.3	nonsynonymous SNV	exon2	c.G33A	p.M11I	MIWSTAHIFVMKARTAVTEWEAA	MIWSTAHIFVIKARTAVTEWEAA	1.0	7.0	unscreened	-	1913_9:113308512-113308512 C>T_MIWSTAHIFVIKARTAVTEWEAA
2:179583148-179583148 C>T	0.0	1913	MELANOMA	-	-	-	-	TTN	ENST00000589042,p.E8229K|uc031rqd.1,p.E7912K|ENST00000591111,p.E7912K|uc002umz.1,p.E3646K|ENST00000342992,p.E6985K|NM_133378,p.E6985K|uc031rqc.1,p.E8229K|uc021vsy.2,p.E6985K|NM_001256850,p.E7912K|NM_001267550,p.E8229K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon83	c.G23734A	p.E7912K	CSITMTEKSTILEILESTIEDYAQY	CSITMTEKSTILKILESTIEDYAQY	2.0	5.0	unscreened	-	1913_2:179583148-179583148 C>T_CSITMTEKSTILKILESTIEDYAQY
6:51732694-51732694 C>T	0.0	1913	MELANOMA	-	-	-	-	PKHD1	ENST00000371117,p.G2567E|uc003pah.1,p.G2567E|uc003pai.3,p.G2567E|uc010jzn.1,p.G550E|ENST00000340994,p.G2567E|NM_170724,p.G2567E|NM_138694,p.G2567E	protein_coding	uc010jzn.1	nonsynonymous SNV	exon12	c.G1649A	p.G550E	SFGRVVHGSACGGGVLFHRMSIGLA	SFGRVVHGSACGEGVLFHRMSIGLA	1.0	8.0	unscreened	-	1913_6:51732694-51732694 C>T_SFGRVVHGSACGEGVLFHRMSIGLA
11:51515436-51515436 C>T	0.0	1913	MELANOMA	-	-	-	-	OR4C46	uc010ric.2,p.S52L|NM_001004703,p.S52L|ENST00000328188,p.S52L	protein_coding	uc010ric.2	nonsynonymous SNV	exon1	c.C155T	p.S52L	YVLIVVTITASPSLGSPMYLSLAYL	YVLIVVTITASPLLGSPMYLSLAYL	1.0	1.0	unscreened	-	1913_11:51515436-51515436 C>T_YVLIVVTITASPLLGSPMYLSLAYL
9:37719093-37719093 G>A	0.0	1913	MELANOMA	-	-	-	-	FRMPD1	ENST00000539465,p.E146K|NM_014907,p.E146K|uc004aah.1,p.E146K|ENST00000377765,p.E146K|uc004aag.1,p.E146K	protein_coding	uc004aah.1	nonsynonymous SNV	exon6	c.G436A	p.E146K	CTSGVPKSSFLTEEKRARLKTNPVK	CTSGVPKSSFLTKEKRARLKTNPVK	1.0	9.0	unscreened	-	1913_9:37719093-37719093 G>A_CTSGVPKSSFLTKEKRARLKTNPVK
1:177249843-177249843 G>A	1.0	1913	MELANOMA	-	-	-	-	BRINP2	NM_021165,p.D511N|uc001glf.3,p.D511N|ENST00000361539,p.D511N|uc001glg.3,p.D406N	protein_coding, processed_transcript	uc001glg.3	nonsynonymous SNV	exon5	c.G1216A	p.D406N	LENFLGLETDLQDLELKYLLQKQDS	LENFLGLETDLQNLELKYLLQKQDS	5.0	8.0	unscreened	-	1913_1:177249843-177249843 G>A_LENFLGLETDLQNLELKYLLQKQDS
19:45716410-45716410 G>A	0.0	1913	MELANOMA	-	-	-	-	EXOC3L2	uc002pay.1,p.L383F|NM_138568,p.L383F|ENST00000252482,p.L383F|ENST00000413988,p.L383F	protein_coding	uc002pay.1	nonsynonymous SNV	exon10	c.C1147T	p.L383F	CLSLPLFLGRLPLSRLARPSLACLP	CLSLPLFLGRLPFSRLARPSLACLP	1.0	9.0	unscreened	-	1913_19:45716410-45716410 G>A_CLSLPLFLGRLPFSRLARPSLACLP
4:159533475-159533475 C>T	0.0	1913	MELANOMA	-	-	-	-	RXFP1	uc011cja.2,p.S133F|NM_001253728,p.S181F|uc010iql.3,p.S82F|NM_001253733,p.S82F|uc011cjc.2,p.S133F|NM_001253732,p.S82F|uc011cjf.2,p.S84F|ENST00000448688,p.S133F|uc010iqj.2,p.S43F|ENST00000470033,p.S181F|NM_021634,p.S214F|NM_001253729,p.S214F|ENST00000460056,p.S133F|ENST00000343542,p.S214F|NM_001253727,p.S241F|uc011cjb.2,p.S160F|uc010iqk.3,p.S82F|uc010iqm.3,p.S181F|NM_001253730,p.S84F|uc011cjd.2,p.S133F|ENST00000307765,p.S214F|uc010iqn.3,p.S160F|uc003ipz.3,p.S214F|uc010iqo.3,p.S214F|uc011cje.2,p.S241F	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cjf.2	nonsynonymous SNV	exon7	c.C251T	p.S84F	WLIIEDNHLSRISPPTFYGLNSLIL	WLIIEDNHLSRIFPPTFYGLNSLIL	1.0	9.0	unscreened	-	1913_4:159533475-159533475 C>T_WLIIEDNHLSRIFPPTFYGLNSLIL
19:51983605-51983605 G>A	0.0	1913	MELANOMA	-	-	-	-	CEACAM18	uc002pwv.1,p.G85E|ENST00000451626,p.G85E|NM_001278392,p.G24E|ENST00000396477,p.G24E	protein_coding	uc002pwv.1	nonsynonymous SNV	exon3	c.G254A	p.G85E	RRVFLMASLLACGICQASGQIFITQ	RRVFLMASLLACEICQASGQIFITQ	1.0	3.0	unscreened	-	1913_19:51983605-51983605 G>A_RRVFLMASLLACEICQASGQIFITQ
10:45938568-45938568 C>T	0.0	1913	MELANOMA	-	-	-	-	ALOX5	NM_001256154,p.P452L|NM_000698,p.P452L|ENST00000374391,p.P452L|ENST00000542434,p.P452L|uc010qfg.3,p.P452L|uc001jce.4,p.P452L	protein_coding, processed_transcript	uc010qfg.3	nonsynonymous SNV	exon10	c.C1355T	p.P452L	AMKDLTYASLCFPEAIKARGMESKE	AMKDLTYASLCFLEAIKARGMESKE	4.0	6.0	unscreened	-	1913_10:45938568-45938568 C>T_AMKDLTYASLCFLEAIKARGMESKE
3:169540448-169540448 C>T	0.0	1913	MELANOMA	-	-	-	-	LRRIQ4	ENST00000340806,p.H247Y|NM_001080460,p.H247Y|uc003fgb.3,p.H247Y	protein_coding	uc003fgb.3	nonsynonymous SNV	exon1	c.C739T	p.H247Y	QLSVLDLSHNLLHSIPKSFAELRKM	QLSVLDLSHNLLYSIPKSFAELRKM	2.0	1.0	unscreened	-	1913_3:169540448-169540448 C>T_QLSVLDLSHNLLYSIPKSFAELRKM
9:135940477-135940477 A>G	0.0	1913	MELANOMA	-	-	-	-	CEL	ENST00000372080,p.M134V|uc010naa.2,p.M134V|NM_001807,p.M134V|ENST00000351304,p.M131V	protein_coding	uc010naa.2	nonsynonymous SNV	exon4	c.A400G	p.M134V	PVMIWIYGGAFLMGSGHGANFLNNY	PVMIWIYGGAFLVGSGHGANFLNNY	3.0	8.0	unscreened	-	1913_9:135940477-135940477 A>G_PVMIWIYGGAFLVGSGHGANFLNNY
11:6898528-6898528 G>A	0.0	1913	MELANOMA	-	-	-	-	OR10A4	ENST00000379829,p.G217E|uc010rat.2,p.G217E|NM_207186,p.G217E	protein_coding	uc010rat.2	nonsynonymous SNV	exon1	c.G650A	p.G217E	VLFILFPFLLILGSYVRILSTIFRM	VLFILFPFLLILESYVRILSTIFRM	1.0	8.0	unscreened	-	1913_11:6898528-6898528 G>A_VLFILFPFLLILESYVRILSTIFRM
1:94668679-94668679 G>A	0.0	1913	MELANOMA	-	-	-	-	ARHGAP29	ENST00000370217,p.L284F|ENST00000260526,p.L284F|NM_004815,p.L284F|uc001dqj.4,p.L284F|uc001dql.3,p.L284F|ENST00000552844,p.L284F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001dql.3	nonsynonymous SNV	exon9	c.C850T	p.L284F	ESSHLLQQTIAALQANKFVQPLLGR	ESSHLLQQTIAAFQANKFVQPLLGR	1.0	9.0	unscreened	-	1913_1:94668679-94668679 G>A_ESSHLLQQTIAAFQANKFVQPLLGR
8:55538903-55538903 C>T	0.0	1913	MELANOMA	-	-	-	-	RP1	uc003xsd.1,p.H821Y|NM_006269,p.H821Y|ENST00000220676,p.H821Y	protein_coding	uc003xsd.1	nonsynonymous SNV	exon4	c.C2461T	p.H821Y	YCKSTFENKSLFHVFNILEQKPKDF	YCKSTFENKSLFYVFNILEQKPKDF	1.0	8.0	unscreened	-	1913_8:55538903-55538903 C>T_YCKSTFENKSLFYVFNILEQKPKDF
21:18924271-18924271 G>A	0.0	1913	MELANOMA	-	-	-	-	CXADR	NM_001207064,p.G139R|uc010gld.2,p.G139R|ENST00000400165,p.G139R	protein_coding	uc010gld.2	nonsynonymous SNV	exon3	c.G415A	p.G139R	GVANKKIHLVVLGKMCHLQRAVRPL	GVANKKIHLVVLRKMCHLQRAVRPL	1.0	3.0	unscreened	-	1913_21:18924271-18924271 G>A_GVANKKIHLVVLRKMCHLQRAVRPL
16:3274572-3274572 C>T	1.0	1913	MELANOMA	-	-	-	-	ZNF200	uc002cul.3,p.E169K|uc002cum.3,p.E169K|uc010bti.2,p.E169K|ENST00000396870,p.E169K|ENST00000396871,p.E169K|NM_001145448,p.E169K|NM_198088,p.E170K|ENST00000396868,p.E169K|ENST00000575948,p.E169K|ENST00000414144,p.E170K|NM_001145446,p.E169K|uc002cui.2,p.E169K|uc002cuj.2,p.E170K|NM_198087,p.E169K|NM_003454,p.E170K|uc002cuk.2,p.E170K|ENST00000431561,p.E170K|NM_001145447,p.E169K	retained_intron, protein_coding	uc010bti.2	nonsynonymous SNV	exon5	c.G505A	p.E169K	NGSNPEGEDPEREPVENEDYREKSS	NGSNPEGEDPERKPVENEDYREKSS	6.0	3.0	unscreened	-	1913_16:3274572-3274572 C>T_NGSNPEGEDPERKPVENEDYREKSS
1:32264123-32264123 C>T	1.0	1913	MELANOMA	-	-	-	-	SPOCD1	uc001btv.3,p.D143N|ENST00000533231,p.D650N|ENST00000360482,p.D650N|ENST00000257100,p.D143N|NM_001281987,p.D650N|uc001btu.3,p.D650N|NM_001281988,p.D143N|ENST00000452755,p.D87N|uc001bts.1,p.D650N|NM_144569,p.D650N	retained_intron, protein_coding	uc001btv.3	nonsynonymous SNV	exon7	c.G427A	p.D143N	EGIAAGIEAALWDLTQGTNGRYKTK	EGIAAGIEAALWNLTQGTNGRYKTK	4.0	1.0	unscreened	-	1913_1:32264123-32264123 C>T_EGIAAGIEAALWNLTQGTNGRYKTK
12:2788887-2788887 C>T	0.0	1913	MELANOMA	-	-	-	-	CACNA1C	uc001qkk.2,p.T1790I|NM_001129831,p.T1818I|ENST00000344100,p.T1831I|NM_199460,p.T1838I|ENST00000327702,p.T1790I|uc001qkn.2,p.T1790I|uc001qkb.2,p.T1790I|uc009zdv.1,p.T1787I|uc001qkl.2,p.T1838I|uc009zdu.1,p.T1838I|NM_001129829,p.T1831I|NM_001129841,p.T1790I|ENST00000399601,p.T1790I|uc001qks.2,p.T1790I|NM_001167623,p.T1790I|ENST00000399591,p.T1798I|ENST00000399655,p.T1790I|uc001qkt.2,p.T1809I|uc001qjz.2,p.T1790I|uc001qkq.2,p.T1818I|NM_001129837,p.T1798I|ENST00000347598,p.T1838I|NM_001129840,p.T1790I|uc001qkm.2,p.T1779I|NM_001129844,p.T1787I|NM_001129839,p.T1796I|uc001qkh.2,p.T1798I|uc001qku.2,p.T1790I|ENST00000399649,p.T1796I|NM_001129842,p.T1790I|NM_001129835,p.T1809I|ENST00000399634,p.T1790I|ENST00000399638,p.T1818I|ENST00000399603,p.T1790I|NM_001167625,p.T1779I|uc001qkf.2,p.T1798I|NM_001167624,p.T1790I|NM_001129838,p.T1798I|uc010sea.1,p.T481I|NM_001129846,p.T1779I|uc009zdw.1,p.T1831I|uc001qkd.2,p.T1809I|uc001qky.1,p.T108I|NM_001129833,p.T1809I|ENST00000399644,p.T1790I|uc001qki.1,p.T1526I|NM_001129834,p.T1809I|ENST00000399629,p.T1807I|ENST00000399621,p.T1809I|uc001qkj.2,p.T1790I|uc001qkr.2,p.T1807I|ENST00000399641,p.T1790I|ENST00000399597,p.T1790I|ENST00000399617,p.T1790I|ENST00000399606,p.T1810I|ENST00000399637,p.T1809I|NM_001129830,p.T1790I|uc001qko.2,p.T1810I|NM_001129827,p.T1838I|uc001qkc.2,p.T1809I|ENST00000399595,p.T1798I|uc001qke.2,p.T1779I|ENST00000335762,p.T1815I|NM_001129836,p.T1807I|NM_001129843,p.T1790I|NM_001129832,p.T1810I|ENST00000406454,p.T1790I|uc001qkp.2,p.T1790I|NM_000719,p.T1790I|ENST00000402845,p.T1809I|uc001qkg.2,p.T1796I	retained_intron, protein_coding, processed_transcript	uc010sea.1	nonsynonymous SNV	exon12	c.C1442T	p.T481I	LPRPAGYPSTVSTVEGHGPPLSPAI	LPRPAGYPSTVSIVEGHGPPLSPAI	1.0	3.0	unscreened	-	1913_12:2788887-2788887 C>T_LPRPAGYPSTVSIVEGHGPPLSPAI
3:167051623-167051623 T>A	0.0	1913	MELANOMA	-	-	-	-	ZBBX	ENST00000392764,p.S198C|NM_001199202,p.S198C|uc011bpc.2,p.S227C|uc003feq.3,p.S198C|ENST00000455345,p.S227C|ENST00000392767,p.S227C|ENST00000392766,p.S227C|uc003fep.3,p.S227C|ENST00000307529,p.S227C|NM_024687,p.S227C|NM_001199201,p.S227C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bpc.2	nonsynonymous SNV	exon10	c.A679T	p.S227C	QHKPKSVLLQRSSSEVEITTMKRAQ	QHKPKSVLLQRSCSEVEITTMKRAQ	1.0	1.0	unscreened	-	1913_3:167051623-167051623 T>A_QHKPKSVLLQRSCSEVEITTMKRAQ
18:70205925-70205925 A>C	0.0	1913	MELANOMA	-	-	-	-	CBLN2	ENST00000584764,p.F31C|uc002lku.2,p.F147C|uc002lkv.2,p.F147C|ENST00000585159,p.F147C|NM_182511,p.F147C|ENST00000269503,p.F147C|ENST00000581073,p.F33C	protein_coding, processed_transcript, ambiguous_orf	uc002lkv.2	nonsynonymous SNV	exon4	c.T440G	p.F147C	FVAPRKGIYSFSFHVVKVYNRQTIQ	FVAPRKGIYSFSCHVVKVYNRQTIQ	1.0	9.0	unscreened	-	1913_18:70205925-70205925 A>C_FVAPRKGIYSFSCHVVKVYNRQTIQ
X:99956505-99956505 C>A	0.0	1913	MELANOMA	-	-	-	-	SYTL4	ENST00000276141,p.R92L|uc004egf.4,p.R92L|ENST00000372981,p.R92L|ENST00000454200,p.R92L|NM_001129896,p.R92L|ENST00000263033,p.R92L|uc004ege.4,p.R92L|NM_001174068,p.R92L|NM_080737,p.R92L|ENST00000372989,p.R92L|uc004egd.4,p.R92L|uc010nnc.3,p.R92L|ENST00000455616,p.R92L|uc004egg.4,p.R92L	protein_coding, processed_transcript	uc010nnc.3	nonsynonymous SNV	exon3	c.G275T	p.R92L	CRGCNHLVCRDCRIQESNGTWRCKV	CRGCNHLVCRDCLIQESNGTWRCKV	7.0	9.0	unscreened	-	1913_X:99956505-99956505 C>A_CRGCNHLVCRDCLIQESNGTWRCKV
6:17987286-17987286 T>C	1.0	1913	MELANOMA	-	-	-	-	KIF13A	ENST00000378816,p.R49G	retained_intron, protein_coding, processed_transcript	ENST00000378816	nonsynonymous SNV	exon2	c.A145G	p.R49G	LHPPPSNTKQGERRPSQVFAFDYCF	LHPPPSNTKQGEGRPSQVFAFDYCF	9.0	9.0	unscreened	-	1913_6:17987286-17987286 T>C_LHPPPSNTKQGEGRPSQVFAFDYCF
5:153760020-153760020 G>A	1.0	1913	MELANOMA	-	-	-	-	GALNT10	ENST00000297107,p.R256Q|uc003lvg.1,p.R256Q|ENST00000425427,p.R256Q|NM_198321,p.R256Q|uc003lvh.3,p.R256Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003lvh.3	nonsynonymous SNV	exon6	c.G767A	p.R256Q	VNWLPPLLDRIARNRKTIVCPMIDV	VNWLPPLLDRIAQNRKTIVCPMIDV	7.0	7.0	unscreened	-	1913_5:153760020-153760020 G>A_VNWLPPLLDRIAQNRKTIVCPMIDV
20:43057089-43057089 G>A	0.0	1913	MELANOMA	-	-	-	-	HNF4A	uc002xlz.4,p.G415E|NM_001287182,p.G390E|uc002xlu.4,p.G393E|ENST00000415691,p.G415E|NM_178849,p.G415E|ENST00000457232,p.G393E|NM_001030003,p.G393E	protein_coding, nonsense_mediated_decay	uc002xlz.4	nonsynonymous SNV	exon9	c.G1244A	p.G415E	IVANTMPTHLSNGQMSTPETPQPSP	IVANTMPTHLSNEQMSTPETPQPSP	1.0	9.0	unscreened	-	1913_20:43057089-43057089 G>A_IVANTMPTHLSNEQMSTPETPQPSP
19:10091344-10091344 G>A	1.0	1913	MELANOMA	-	-	-	-	COL5A3	ENST00000264828,p.P862S|uc002mmq.1,p.P862S|NM_015719,p.P862S	retained_intron, protein_coding	uc002mmq.1	nonsynonymous SNV	exon35	c.C2584T	p.P862S	PGPKGDVGQDGAPGIPGEKGLPGLQ	PGPKGDVGQDGASGIPGEKGLPGLQ	7.0	2.0	unscreened	-	1913_19:10091344-10091344 G>A_PGPKGDVGQDGASGIPGEKGLPGLQ
12:97311499-97311499 T>C	1.0	1913	MELANOMA	-	-	-	-	NEDD1	ENST00000553609,p.V22A|NM_152905,p.V111A|ENST00000557478,p.V111A|uc001teu.4,p.V111A|ENST00000554226,p.V118A|NM_001135176,p.V111A|uc010svc.2,p.V22A|uc001tex.3,p.V22A|uc001tew.3,p.V118A|ENST00000557644,p.V118A|ENST00000457368,p.V22A|ENST00000429527,p.V111A|ENST00000411739,p.V22A|ENST00000266742,p.V111A|uc001tev.4,p.V111A|ENST00000555806,p.V22A|NM_001135177,p.V22A|NM_001135175,p.V118A	protein_coding, processed_transcript, nonsense_mediated_decay	uc010svc.2	nonsynonymous SNV	exon3	c.T65C	p.V22A	NTVNIWDLKSKRVHRSLKDHKDQVT	NTVNIWDLKSKRAHRSLKDHKDQVT	7.0	8.0	unscreened	-	1913_12:97311499-97311499 T>C_NTVNIWDLKSKRAHRSLKDHKDQVT
22:42606717-42606717 C>T	1.0	1913	MELANOMA	-	-	-	-	TCF20	ENST00000335626,p.G1532E|NM_005650,p.G1532E|ENST00000359486,p.G1532E|uc003bcj.1,p.G1532E|uc003bck.1,p.G1532E|NM_181492,p.G1532E	protein_coding	uc003bck.1	nonsynonymous SNV	exon1	c.G4595A	p.G1532E	TISPKQEGFPPKGYFPSGKKKGRPI	TISPKQEGFPPKEYFPSGKKKGRPI	8.0	3.0	unscreened	-	1913_22:42606717-42606717 C>T_TISPKQEGFPPKEYFPSGKKKGRPI
9:140952564-140952564 G>A	0.0	1913	MELANOMA	-	-	-	-	CACNA1B	ENST00000371372,p.M1390I|uc004cog.3,p.M1390I|NM_000718,p.M1390I|NM_001243812,p.M1390I|uc031tfz.1,p.M1390I|ENST00000371357,p.M1391I|uc004coi.3,p.M604I|uc031tfy.1,p.M1390I|ENST00000277549,p.M586I|uc022bqn.1,p.M1390I|ENST00000277551,p.M1390I|ENST00000371363,p.M1390I|ENST00000371355,p.M1391I|uc011mfd.2,p.M991I	protein_coding	uc031tfz.1	nonsynonymous SNV	exon28	c.G4170A	p.M1390I	TYEEQGPSPGYRMELSIFYVVYFVV	TYEEQGPSPGYRIELSIFYVVYFVV	1.0	2.0	unscreened	-	1913_9:140952564-140952564 G>A_TYEEQGPSPGYRIELSIFYVVYFVV
5:178410215-178410215 C>T	0.0	1913	MELANOMA	-	-	-	-	GRM6	uc003mjq.3,p.G114E	retained_intron, protein_coding, processed_transcript	uc003mjq.3	nonsynonymous SNV	exon1	c.G341A	p.G114E	LCLMQCWLLQVVGMIAWLGARPPHS	LCLMQCWLLQVVEMIAWLGARPPHS	1.0	7.0	unscreened	-	1913_5:178410215-178410215 C>T_LCLMQCWLLQVVEMIAWLGARPPHS
19:57646914-57646914 G>A	0.0	1913	MELANOMA	-	-	-	-	ZIM3	ENST00000269834,p.S264L|NM_052882,p.S264L|uc002qnz.1,p.S264L	protein_coding	uc002qnz.1	nonsynonymous SNV	exon5	c.C791T	p.S264L	QCKTCGKAFSWKSSCINHEKIHNAK	QCKTCGKAFSWKLSCINHEKIHNAK	1.0	8.0	unscreened	-	1913_19:57646914-57646914 G>A_QCKTCGKAFSWKLSCINHEKIHNAK
2:42990677-42990677 C>T	0.0	1913	MELANOMA	-	-	-	-	OXER1	NM_148962,p.G215R|uc002rss.3,p.G215R|ENST00000378661,p.G215R	protein_coding	uc002rss.3	nonsynonymous SNV	exon1	c.G643A	p.G215R	RASVGAAARVAGGLWVGILLLNGHL	RASVGAAARVAGRLWVGILLLNGHL	1.0	4.0	unscreened	-	1913_2:42990677-42990677 C>T_RASVGAAARVAGRLWVGILLLNGHL
2:179587872-179587872 C>T	0.0	1913	MELANOMA	-	-	-	-	TTN	ENST00000591111,p.E6971K|ENST00000342992,p.E6044K|NM_001267550,p.E7288K|uc031rqd.1,p.E6971K|uc002umz.1,p.E2705K|ENST00000589042,p.E7288K|NM_133378,p.E6044K|uc031rqc.1,p.E7288K|uc021vsy.2,p.E6044K|NM_001256850,p.E6971K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon73	c.G20911A	p.E6971K	CNIVTTEKTCILEILNSTKRDAGQY	CNIVTTEKTCILKILNSTKRDAGQY	2.0	7.0	unscreened	-	1913_2:179587872-179587872 C>T_CNIVTTEKTCILKILNSTKRDAGQY
8:2823428-2823428 C>T	0.0	1913	MELANOMA	-	-	-	-	CSMD1	ENST00000602557,p.G3051E|ENST00000537824,p.G3050E|uc011kwj.2,p.G2380E|uc022aqr.1,p.G3050E|ENST00000520002,p.G3051E|NM_033225,p.G3050E	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon59	c.G9149A	p.G3050E	GDPGTLANGIQFGTDFTFNKTVSYQ	GDPGTLANGIQFETDFTFNKTVSYQ	1.0	4.0	unscreened	-	1913_8:2823428-2823428 C>T_GDPGTLANGIQFETDFTFNKTVSYQ
2:73613268-73613268 T>C	0.0	1913	MELANOMA	-	-	-	-	ALMS1	ENST00000409009,p.L91P|uc002sjf.1,p.L91P|ENST00000264448,p.L91P|ENST00000377715,p.L91P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002sjf.1	nonsynonymous SNV	exon1	c.T272C	p.L91P	WLQAHPGRILPPLSPPQHRYSEGER	WLQAHPGRILPPPSPPQHRYSEGER	6.0	8.0	unscreened	-	1913_2:73613268-73613268 T>C_WLQAHPGRILPPPSPPQHRYSEGER
10:5254979-5254979 C>T	0.0	1913	MELANOMA	-	-	-	-	AKR1C4	NM_001818,p.L235F|ENST00000380448,p.L235F|ENST00000263126,p.L235F|uc001ihw.2,p.L235F	protein_coding, processed_transcript	uc001ihw.2	nonsynonymous SNV	exon7	c.C703T	p.L235F	RHKLWVDPNSPVLLEDPVLCALAKK	RHKLWVDPNSPVFLEDPVLCALAKK	1.0	2.0	unscreened	-	1913_10:5254979-5254979 C>T_RHKLWVDPNSPVFLEDPVLCALAKK
21:37620813-37620813 G>A	1.0	1913	MELANOMA	-	-	-	-	DOPEY2	uc011aeb.2,p.D1598N|uc002yvh.3,p.D500N|ENST00000399151,p.D1649N|uc002yvg.3,p.D1649N|NM_005128,p.D1649N	retained_intron, protein_coding, processed_transcript	uc011aeb.2	nonsynonymous SNV	exon19	c.G4792A	p.D1598N	VLRKEETQKRPVDLLGATKGSSSVY	VLRKEETQKRPVNLLGATKGSSSVY	6.0	6.0	unscreened	-	1913_21:37620813-37620813 G>A_VLRKEETQKRPVNLLGATKGSSSVY
19:52942091-52942091 C>T	0.0	1913	MELANOMA	-	-	-	-	ZNF534	NM_001143938,p.H460Y|uc002pzk.3,p.H473Y|ENST00000433050,p.H460Y|uc002pzl.3,p.H460Y|NM_001143939,p.H473Y|ENST00000332323,p.H473Y	protein_coding	uc002pzl.3	nonsynonymous SNV	exon4	c.C1378T	p.H460Y	RHKSSLTYHCRIHTGEKPYKCNECG	RHKSSLTYHCRIYTGEKPYKCNECG	1.0	9.0	unscreened	-	1913_19:52942091-52942091 C>T_RHKSSLTYHCRIYTGEKPYKCNECG
2:196825564-196825564 C>T	0.0	1913	MELANOMA	-	-	-	-	DNAH7	NM_018897,p.E771K|ENST00000312428,p.E771K|uc002utj.4,p.E771K	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon18	c.G2311A	p.E771K	IQDGLNPYLRLYETAVEFSSNYRAW	IQDGLNPYLRLYKTAVEFSSNYRAW	1.0	6.0	unscreened	-	1913_2:196825564-196825564 C>T_IQDGLNPYLRLYKTAVEFSSNYRAW
5:136974747-136974747 C>T	1.0	1913	MELANOMA	-	-	-	-	KLHL3	ENST00000505853,p.D332N|uc003lbr.5,p.D290N|NM_017415,p.D372N|uc010jem.1,p.D332N|uc011cyc.2,p.D141N|uc010jel.1,p.D141N|NM_001257194,p.D340N|ENST00000508657,p.D340N|NM_001257195,p.D290N|uc010jek.3,p.D372N|uc031sle.1,p.D340N|ENST00000309755,p.D372N|ENST00000506491,p.D290N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031sle.1	nonsynonymous SNV	exon10	c.G1018A	p.D340N	RVRTVDVYDGVKDQWTSIASMQERR	RVRTVDVYDGVKNQWTSIASMQERR	5.0	9.0	unscreened	-	1913_5:136974747-136974747 C>T_RVRTVDVYDGVKNQWTSIASMQERR
11:94113448-94113448 G>A	0.0	1913	MELANOMA	-	-	-	-	GPR83	ENST00000539203,p.S338F|ENST00000243673,p.S380F|NM_016540,p.S380F|uc001pet.2,p.S380F	protein_coding	uc001pet.2	nonsynonymous SNV	exon4	c.C1139T	p.S380F	KPQEDRPPSPVPSFRVAWTEKNDGQ	KPQEDRPPSPVPFFRVAWTEKNDGQ	2.0	8.0	unscreened	-	1913_11:94113448-94113448 G>A_KPQEDRPPSPVPFFRVAWTEKNDGQ
9:107379931-107379931 C>T	0.0	1913	MELANOMA	-	-	-	-	OR13C9	uc011lvr.2,p.M185I|NM_001001956,p.M185I|ENST00000259362,p.M185I	protein_coding	uc011lvr.2	nonsynonymous SNV	exon1	c.G555A	p.M185I	VINHFSCEILAVMKLACADISGNEF	VINHFSCEILAVIKLACADISGNEF	1.0	9.0	unscreened	-	1913_9:107379931-107379931 C>T_VINHFSCEILAVIKLACADISGNEF
4:154512264-154512264 C>T	1.0	1913	MELANOMA	-	-	-	-	KIAA0922	NM_015196,p.S576F|NM_001131007,p.S577F|uc003inm.4,p.S576F|uc010ipp.3,p.S577F|ENST00000409959,p.S577F|ENST00000409663,p.S576F	retained_intron, protein_coding, nonsense_mediated_decay	uc010ipp.3	nonsynonymous SNV	exon17	c.C1730T	p.S577F	RFAHLKKSKESESFVFFLPRLIAEP	RFAHLKKSKESEFFVFFLPRLIAEP	6.0	9.0	unscreened	-	1913_4:154512264-154512264 C>T_RFAHLKKSKESEFFVFFLPRLIAEP
2:189873776-189873776 C>T	0.0	1913	MELANOMA	-	-	-	2	COL3A1	ENST00000317840,p.P915S|uc002uqj.1,p.P1218S|ENST00000304636,p.P1218S|NM_000090,p.P1218S	retained_intron, protein_coding	uc002uqj.1	nonsynonymous SNV	exon48	c.C3652T	p.P1218S	AGIGGEKAGGFAPYYGDEPMDFKIN	AGIGGEKAGGFASYYGDEPMDFKIN	4.0	5.0	unscreened	-	1913_2:189873776-189873776 C>T_AGIGGEKAGGFASYYGDEPMDFKIN
5:179268951-179268951 C>T	1.0	1913	MELANOMA	-	-	-	-	C5orf45	uc003mky.2,p.M132I|NM_001017987,p.M80I|ENST00000518219,p.M135I|uc011dgt.1,p.M135I|ENST00000518235,p.M135I|uc003mla.3,p.M135I|ENST00000520698,p.M80I|ENST00000292586,p.M135I|uc003mlc.3,p.M80I|ENST00000403396,p.M177I|ENST00000376931,p.M80I|uc011dgu.1,p.M80I|NM_016175,p.M135I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dgu.1	nonsynonymous SNV	exon3	c.G240A	p.M80I	TGVCFSKQPSSKMEEPGPRFSQDLP	TGVCFSKQPSSKIEEPGPRFSQDLP	10.0	8.0	unscreened	-	1913_5:179268951-179268951 C>T_TGVCFSKQPSSKIEEPGPRFSQDLP
2:179453358-179453358 G>A	0.0	1913	MELANOMA	-	-	-	-	TTN	ENST00000359218,p.H12092Y|NM_001256850,p.H19391Y|NM_133437,p.H12159Y|NM_133378,p.H18464Y|ENST00000342175,p.H12159Y|uc031rqd.1,p.H19391Y|uc021vtb.2,p.H11967Y|uc021vta.2,p.H12092Y|ENST00000591111,p.H19391Y|uc031rqc.1,p.H21032Y|NM_003319,p.H11967Y|ENST00000460472,p.H11967Y|uc021vsy.2,p.H18464Y|NM_133432,p.H12092Y|ENST00000589042,p.H21032Y|NM_001267550,p.H21032Y|uc021vsz.2,p.H12159Y|ENST00000342992,p.H18464Y	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon254	c.C58171T	p.H19391Y	ERRMKVQNLLPDHEYQFRVKAENEI	ERRMKVQNLLPDYEYQFRVKAENEI	2.0	5.0	unscreened	-	1913_2:179453358-179453358 G>A_ERRMKVQNLLPDYEYQFRVKAENEI
11:22271847-22271847 T>A	0.0	1913	MELANOMA	-	-	-	-	ANO5	uc001mqi.2,p.F315I|ENST00000324559,p.F315I|NM_001142649,p.F314I|uc001mqj.2,p.F314I|NM_213599,p.F315I	protein_coding, processed_transcript	uc001mqj.2	nonsynonymous SNV	exon10	c.T940A	p.F314I	YFVFLGFYTEMLFFAAVVGLACFIY	YFVFLGFYTEMLIFAAVVGLACFIY	1.0	3.0	unscreened	-	1913_11:22271847-22271847 T>A_YFVFLGFYTEMLIFAAVVGLACFIY
20:9434075-9434075 G>A	0.0	1913	MELANOMA	-	-	-	-	PLCB4	ENST00000378473,p.E988K|ENST00000378501,p.E976K|uc010gbx.3,p.E988K|uc021wam.1,p.E976K|NM_182797,p.E976K|NM_001172646,p.E988K|uc010gbw.1,p.E976K|NM_000933,p.E976K|ENST00000414679,p.E988K|ENST00000278655,p.E976K|uc002wnh.3,p.E823K|ENST00000378493,p.E976K|uc021wal.1,p.E976K|ENST00000334005,p.E976K	protein_coding, processed_transcript	uc021wam.1	nonsynonymous SNV	exon29	c.G2926A	p.E976K	IVAQYDKEKSTHEKILEKAMKKKGG	IVAQYDKEKSTHKKILEKAMKKKGG	1.0	5.0	unscreened	-	1913_20:9434075-9434075 G>A_IVAQYDKEKSTHKKILEKAMKKKGG
1:158746881-158746881 G>A	0.0	1913	MELANOMA	0.0005	-	-	-	OR6N2	uc010pir.2,p.P182L|ENST00000339258,p.P182L|NM_001005278,p.P182L	protein_coding	uc010pir.2	nonsynonymous SNV	exon1	c.C545T	p.P182L	AYNEIQHIFCDFPPLLSLACKDTSA	AYNEIQHIFCDFLPLLSLACKDTSA	1.0	8.0	unscreened	-	1913_1:158746881-158746881 G>A_AYNEIQHIFCDFLPLLSLACKDTSA
6:54806673-54806673 G>A	0.0	1913	MELANOMA	-	-	-	-	FAM83B	uc003pck.4,p.M968I|NM_001010872,p.M968I|ENST00000306858,p.M968I	protein_coding	uc003pck.4	nonsynonymous SNV	exon5	c.G2904A	p.M968I	TSINRPEIKSATMGNSYGRSSPLLN	TSINRPEIKSATIGNSYGRSSPLLN	1.0	9.0	unscreened	-	1913_6:54806673-54806673 G>A_TSINRPEIKSATIGNSYGRSSPLLN
2:136567197-136567197 A>T	0.0	1913	MELANOMA	-	-	-	-	LCT	ENST00000452974,p.F339Y|ENST00000264162,p.F907Y|uc002tuu.1,p.F907Y|NM_002299,p.F907Y	protein_coding, nonsense_mediated_decay	uc002tuu.1	nonsynonymous SNV	exon8	c.T2720A	p.F907Y	RDLFYHGTFRDDFLWGVSSSAYQIE	RDLFYHGTFRDDYLWGVSSSAYQIE	2.0	6.0	unscreened	-	1913_2:136567197-136567197 A>T_RDLFYHGTFRDDYLWGVSSSAYQIE
9:94171662-94171662 G>A	1.0	1913	MELANOMA	-	-	-	-	NFIL3	uc022bjt.1,p.A452V|NM_001289999,p.A452V|NM_001290000,p.A452V|uc004arh.3,p.A452V|ENST00000297689,p.A452V|NM_005384,p.A452V	protein_coding	uc022bjt.1	nonsynonymous SNV	exon1	c.C1355T	p.A452V	LSAEVVSLKRLIATQPISASDSG	LSAEVVSLKRLIVTQPISASDSG	8.0	4.0	unscreened	-	1913_9:94171662-94171662 G>A_LSAEVVSLKRLIVTQPISASDSG
6:159646688-159646688 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1075495;OCCURENCE=1(endometrium)	-	FNDC1	uc010kjv.3,p.R336C|ENST00000340366,p.R336C|ENST00000297267,p.R336C|NM_032532,p.R336C|uc010kjw.1,p.R284C	protein_coding, processed_transcript	uc010kjw.1	nonsynonymous SNV	exon7	c.C850T	p.R284C	NLIPDTVYEFAVRISQGERDGKWST	NLIPDTVYEFAVCISQGERDGKWST	1.0	9.0	unscreened	-	1913_6:159646688-159646688 C>T_NLIPDTVYEFAVCISQGERDGKWST
X:49113304-49113304 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1468364;OCCURENCE=1(large_intestine)	-	FOXP3	uc011mnb.2,p.S207L	protein_coding	uc011mnb.2	nonsynonymous SNV	exon4	c.C620T	p.S207L	PSPDTLCPPSTLSAVPQSSYPLLAN	PSPDTLCPPSTLLAVPQSSYPLLAN	3.0	9.0	unscreened	-	1913_X:49113304-49113304 G>A_PSPDTLCPPSTLLAVPQSSYPLLAN
2:231157414-231157414 G>A	1.0	1913	MELANOMA	-	-	-	-	SP140	uc002vql.3,p.E627K|ENST00000486687,p.E551K|ENST00000420434,p.E600K|ENST00000417495,p.E513K|ENST00000392045,p.E627K|ENST00000350136,p.E496K|ENST00000343805,p.E567K|NM_001278452,p.E567K|uc002vqn.3,p.E513K|NM_001278451,p.E600K|uc010fxl.3,p.E600K|NM_007237,p.E627K|uc002vqm.3,p.E567K|NM_001278453,p.E513K	retained_intron, protein_coding, processed_transcript	uc010fxl.3	nonsynonymous SNV	exon19	c.G1798A	p.E600K	IQTEDGKWFTPTEFEIKGGHARSKN	IQTEDGKWFTPTKFEIKGGHARSKN	4.0	6.0	unscreened	-	1913_2:231157414-231157414 G>A_IQTEDGKWFTPTKFEIKGGHARSKN
17:10360818-10360818 C>T	0.0	1913	MELANOMA	-	-	-	-	MYH4	NM_017533,p.E606K|uc002gmn.3,p.E606K|ENST00000255381,p.E606K	protein_coding	uc002gmn.3	nonsynonymous SNV	exon16	c.G1816A	p.E606K	AGWLDKNKDPLNETVVGLYQKSAMK	AGWLDKNKDPLNKTVVGLYQKSAMK	1.0	4.0	unscreened	-	1913_17:10360818-10360818 C>T_AGWLDKNKDPLNKTVVGLYQKSAMK
9:104048405-104048405 C>T	0.0	1913	MELANOMA	-	-	-	-	LPPR1	ENST00000374874,p.S91F|NM_017753,p.S91F|NM_207299,p.S91F|uc010mtc.3,p.S75F|ENST00000395056,p.S91F|ENST00000456287,p.S91F|uc004bbb.3,p.S91F|uc011lvi.2,p.S67F|uc004bbc.3,p.S91F	protein_coding, processed_transcript	uc011lvi.2	nonsynonymous SNV	exon3	c.C200T	p.S67F	ATPTAIIFIGEISMYFIKSTRESLI	ATPTAIIFIGEIFMYFIKSTRESLI	1.0	9.0	unscreened	-	1913_9:104048405-104048405 C>T_ATPTAIIFIGEIFMYFIKSTRESLI
7:47930162-47930162 G>A	0.0	1913	MELANOMA	-	-	-	-	PKD1L1	ENST00000289672,p.P885S|uc003tny.2,p.P885S|NM_138295,p.P885S	retained_intron, protein_coding, processed_transcript	uc003tny.2	nonsynonymous SNV	exon16	c.C2653T	p.P885S	GRNSSETRVFLSPYPDSAFRFVHIS	GRNSSETRVFLSSYPDSAFRFVHIS	4.0	6.0	unscreened	-	1913_7:47930162-47930162 G>A_GRNSSETRVFLSSYPDSAFRFVHIS
8:17579271-17579271 G>A	0.0	1913	MELANOMA	-	-	-	-	MTUS1	uc003wxt.3,p.S47L|ENST00000381861,p.S47L|NM_001001931,p.S47L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003wxt.3	nonsynonymous SNV	exon1	c.C140T	p.S47L	YDATLLTLLVVGSYSLCIIPLLATF	YDATLLTLLVVGLYSLCIIPLLATF	4.0	6.0	unscreened	-	1913_8:17579271-17579271 G>A_YDATLLTLLVVGLYSLCIIPLLATF
11:48285533-48285533 G>A	0.0	1913	MELANOMA	-	-	-	-	OR4X1	NM_001004726,p.G41S|ENST00000320048,p.G41S|uc010rht.2,p.G41S	protein_coding	uc010rht.2	nonsynonymous SNV	exon1	c.G121A	p.G41S	FLLMYTAVVLGNGLIVVTILASKVL	FLLMYTAVVLGNSLIVVTILASKVL	1.0	9.0	unscreened	-	1913_11:48285533-48285533 G>A_FLLMYTAVVLGNSLIVVTILASKVL
11:63175670-63175670 G>A	0.0	1913	MELANOMA	-	-	-	-	SLC22A9	uc001nww.3,p.E459K|ENST00000279178,p.E459K|NM_080866,p.E459K	protein_coding, nonsense_mediated_decay	uc001nww.3	nonsynonymous SNV	exon8	c.G1375A	p.E459K	ALANTLAFAHGNEVIPTIIRARAMG	ALANTLAFAHGNKVIPTIIRARAMG	1.0	1.0	unscreened	-	1913_11:63175670-63175670 G>A_ALANTLAFAHGNKVIPTIIRARAMG
5:78376640-78376640 A>T	0.0	1913	MELANOMA	-	-	-	-	BHMT2	NM_017614,p.K130I|ENST00000255192,p.K130I|uc003kft.3,p.K130I	retained_intron, protein_coding, nonsense_mediated_decay	uc003kft.3	nonsynonymous SNV	exon4	c.A389T	p.K130I	IYKYQKDEARIKKLFRQQLEVFAWK	IYKYQKDEARIKILFRQQLEVFAWK	1.0	9.0	unscreened	-	1913_5:78376640-78376640 A>T_IYKYQKDEARIKILFRQQLEVFAWK
5:41019061-41019061 C>A	0.0	1913	MELANOMA	-	-	-	-	MROH2B	uc003jmj.4,p.R834L|ENST00000506092,p.R389L|ENST00000399564,p.R834L|uc003jmi.4,p.R389L|NM_173489,p.R834L	retained_intron, protein_coding	uc003jmj.4	nonsynonymous SNV	exon25	c.G2501T	p.R834L	LQDHLNILEENIRRLLPLPPLENLK	LQDHLNILEENILRLLPLPPLENLK	1.0	9.0	unscreened	-	1913_5:41019061-41019061 C>A_LQDHLNILEENILRLLPLPPLENLK
19:51920336-51920336 C>T	0.0	1913	MELANOMA	-	-	-	-	SIGLEC10	ENST00000441969,p.V141M|uc002pwq.3,p.V141M|ENST00000442846,p.V141M|NM_001171161,p.V141M|NM_001171159,p.V141M|ENST00000439889,p.V141M|uc002pws.2,p.V141M|uc002pwp.3,p.V141M|NM_001171156,p.V141M	retained_intron, protein_coding	uc002pws.2	nonsynonymous SNV	exon2	c.G421A	p.V141M	NFMNDGFFLKVTVLSFTPRPQDHNT	NFMNDGFFLKVTMLSFTPRPQDHNT	3.0	7.0	unscreened	-	1913_19:51920336-51920336 C>T_NFMNDGFFLKVTMLSFTPRPQDHNT
14:58056127-58056127 G>A	0.0	1913	MELANOMA	-	-	-	-	SLC35F4	ENST00000556826,p.L132F|NM_001206920,p.L131F|uc021rtp.1,p.L131F|ENST00000339762,p.L168F	protein_coding, processed_transcript, nonsense_mediated_decay	uc021rtp.1	nonsynonymous SNV	exon3	c.C391T	p.L131F	SCTSMVLKGIWGLLIILSVSSSWVG	SCTSMVLKGIWGFLIILSVSSSWVG	1.0	9.0	unscreened	-	1913_14:58056127-58056127 G>A_SCTSMVLKGIWGFLIILSVSSSWVG
5:89925081-89925081 C>T	0.0	1913	MELANOMA	-	-	-	-	GPR98	uc003kju.3,p.P522S|ENST00000405460,p.P522S|NM_032119,p.P522S	retained_intron, protein_coding, processed_transcript	uc003kju.3	nonsynonymous SNV	exon9	c.C1564T	p.P522S	DSDDVYGLITFFPMENQKIESSPGE	DSDDVYGLITFFSMENQKIESSPGE	3.0	1.0	unscreened	-	1913_5:89925081-89925081 C>T_DSDDVYGLITFFSMENQKIESSPGE
X:32862965-32862965 C>T	0.0	1913	MELANOMA	-	-	-	-	DMD	uc004ddf.3,p.G59R|ENST00000357033,p.G67R|NM_000109,p.G59R|NM_004006,p.G67R|uc004dcy.1,p.G63R|uc004dda.1,p.G67R|ENST00000378677,p.G63R|uc004ddb.1,p.G59R|NM_004009,p.G63R|ENST00000288447,p.G59R|ENST00000447523,p.G30R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004ddf.3	nonsynonymous SNV	exon4	c.G175A	p.G59R	EGLTGQKLPKEKGSTRVHALNNVNK	EGLTGQKLPKEKRSTRVHALNNVNK	9.0	9.0	unscreened	-	1913_X:32862965-32862965 C>T_EGLTGQKLPKEKRSTRVHALNNVNK
21:10951345-10951345 G>A	0.0	1913	MELANOMA	-	-	-	-	TPTE	uc002yiq.1,p.P105S|ENST00000361285,p.P123S|ENST00000328758,p.P105S|NM_199259,p.P105S|ENST00000298232,p.P105S|uc002yip.1,p.P123S|NM_199261,p.P123S|ENST00000342420,p.P85S|uc002yir.1,p.P85S|NM_199260,p.P85S	protein_coding, processed_transcript	uc002yir.1	nonsynonymous SNV	exon8	c.C253T	p.P85S	ADLIFTDSKLYIPLEYRSISLAIAL	ADLIFTDSKLYISLEYRSISLAIAL	1.0	1.0	unscreened	-	1913_21:10951345-10951345 G>A_ADLIFTDSKLYISLEYRSISLAIAL
11:46894769-46894769 C>T	0.0	1913	MELANOMA	-	-	-	-	LRP4	uc001ndn.4,p.D1489N|ENST00000378623,p.D1489N|NM_002334,p.D1489N	retained_intron, protein_coding	uc001ndn.4	nonsynonymous SNV	exon30	c.G4465A	p.D1489N	AVFPRKGYLFWTDWGHIAKIERANL	AVFPRKGYLFWTNWGHIAKIERANL	2.0	3.0	unscreened	-	1913_11:46894769-46894769 C>T_AVFPRKGYLFWTNWGHIAKIERANL
3:96706382-96706382 A>T	0.0	1913	MELANOMA	-	-	-	-	EPHA6	uc010how.1,p.N220I|uc031sar.1,p.N220I|ENST00000542517,p.N126I|ENST00000389672,p.N220I|uc003drp.1,p.N220I|ENST00000470610,p.N220I|NM_001080448,p.N220I|NM_001278301,p.N220I	protein_coding, nonsense_mediated_decay	uc031sar.1	nonsynonymous SNV	exon3	c.A659T	p.N220I	IPWVLGTCKETFNLFYMESDESHGI	IPWVLGTCKETFILFYMESDESHGI	1.0	3.0	unscreened	-	1913_3:96706382-96706382 A>T_IPWVLGTCKETFILFYMESDESHGI
15:65490936-65490936 G>A	0.0	1913	MELANOMA	-	-	ID=COSM964027;OCCURENCE=1(endometrium)	-	CILP	NM_003613,p.A563V|uc002aon.2,p.A563V	protein_coding	uc002aon.2	nonsynonymous SNV	exon9	c.C1688T	p.A563V	TTKVLPFNKKGSAVFHEIKMLRRKE	TTKVLPFNKKGSVVFHEIKMLRRKE	2.0	2.0	unscreened	-	1913_15:65490936-65490936 G>A_TTKVLPFNKKGSVVFHEIKMLRRKE
6:17987286-17987286 T>C	1.0	1913	MELANOMA	-	-	-	-	KIF13A	NM_001105567,p.R49G|ENST00000378843,p.R49G|NM_001105566,p.R49G|NM_001105568,p.R49G|uc003ncf.3,p.R49G|NM_022113,p.R49G|uc003nci.4,p.R49G|uc003nch.4,p.R49G|ENST00000378814,p.R49G|ENST00000378826,p.R49G|uc003ncg.4,p.R49G|ENST00000259711,p.R49G	retained_intron, protein_coding, processed_transcript	uc003nci.4	nonsynonymous SNV	exon2	c.A145G	p.R49G	LHPPPSNTKQGERKPPKVFAFDYCF	LHPPPSNTKQGEGKPPKVFAFDYCF	9.0	9.0	unscreened	-	1913_6:17987286-17987286 T>C_LHPPPSNTKQGEGKPPKVFAFDYCF
3:78649411-78649411 G>A	1.0	1913	MELANOMA	-	-	-	-	ROBO1	ENST00000464233,p.P1598L|ENST00000436010,p.P1559L|ENST00000467549,p.P1498L|NM_001145845,p.P1498L|uc003dqd.2,p.P1553L|NM_002941,p.P1598L|NM_133631,p.P1553L|ENST00000495273,p.P1553L|uc003dqb.2,p.P1559L|uc010hoh.2,p.P790L|uc003dqe.2,p.P1598L|uc003dqc.2,p.P1498L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hoh.2	nonsynonymous SNV	exon22	c.C2369T	p.P790L	PYCRPTFPTSNNPRDPSSSSSMSSR	PYCRPTFPTSNNLRDPSSSSSMSSR	9.0	2.0	unscreened	-	1913_3:78649411-78649411 G>A_PYCRPTFPTSNNLRDPSSSSSMSSR
12:344306-344306 C>T	0.0	1913	MELANOMA	-	-	-	-	SLC6A13	uc001qic.2,p.G261R|NM_001190997,p.G169R|uc009zdj.2,p.G261R|NM_016615,p.G261R|uc010sdl.2,p.G169R|ENST00000445055,p.G169R|ENST00000343164,p.G261R|uc010sdm.1,p.G142R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sdm.1	nonsynonymous SNV	exon4	c.G424A	p.G142R	LIRGVTLPGAAQGIQFYLYPNLTRL	LIRGVTLPGAAQRIQFYLYPNLTRL	3.0	8.0	unscreened	-	1913_12:344306-344306 C>T_LIRGVTLPGAAQRIQFYLYPNLTRL
5:52368488-52368488 G>A	0.0	1913	MELANOMA	-	-	-	-	ITGA2	NM_002203,p.D798N|ENST00000509814,p.D798N|ENST00000296585,p.D798N|uc011cqc.2,p.D722N|uc003joy.3,p.D798N|ENST00000510722,p.D798N	protein_coding, nonsense_mediated_decay	uc011cqc.2	nonsynonymous SNV	exon18	c.G2164A	p.D722N	HKDCGEDGLCISDLVLDVRQIPAAQ	HKDCGEDGLCISNLVLDVRQIPAAQ	5.0	1.0	unscreened	-	1913_5:52368488-52368488 G>A_HKDCGEDGLCISNLVLDVRQIPAAQ
12:18793483-18793483 G>A	0.0	1913	MELANOMA	-	-	ID=COSM3811615,COSM3811616;OCCURENCE=1(breast)	-	PIK3C2G	uc010sib.2,p.E1435K|NM_001288774,p.E1213K|NM_001288772,p.E1435K|NM_004570,p.E1394K|ENST00000538779,p.E1435K|uc001rdt.3,p.E1394K|ENST00000266497,p.E1394K|ENST00000433979,p.E1394K|uc010sic.2,p.E1213K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010sic.2	nonsynonymous SNV	exon31	c.G3637A	p.E1213K	KSVPKCTDPTYNEIVVYDEVTELQG	KSVPKCTDPTYNKIVVYDEVTELQG	1.0	9.0	unscreened	-	1913_12:18793483-18793483 G>A_KSVPKCTDPTYNKIVVYDEVTELQG
8:125990053-125990053 G>A	0.0	1913	MELANOMA	-	-	-	-	ZNF572	uc003yrr.3,p.E515K|NM_152412,p.E515K|ENST00000319286,p.E515K	protein_coding	uc003yrr.3	nonsynonymous SNV	exon3	c.G1543A	p.E515K	FPHEWTWKNCSGEMPFISSFSVSNS	FPHEWTWKNCSGKMPFISSFSVSNS	2.0	5.0	unscreened	-	1913_8:125990053-125990053 G>A_FPHEWTWKNCSGKMPFISSFSVSNS
14:89178653-89178653 C>T	0.0	1913	MELANOMA	-	-	-	-	EML5	ENST00000554922,p.G540E|NM_183387,p.G540E|uc021ryg.1,p.G540E|uc021ryf.1,p.G540E|ENST00000380664,p.G540E|ENST00000352093,p.G540E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ryg.1	nonsynonymous SNV	exon10	c.G1619A	p.G540E	YIGQVLVTADDYGIIKLFRYPCLRK	YIGQVLVTADDYEIIKLFRYPCLRK	5.0	9.0	unscreened	-	1913_14:89178653-89178653 C>T_YIGQVLVTADDYEIIKLFRYPCLRK
4:183659601-183659601 G>A	0.0	1913	MELANOMA	-	-	-	-	TENM3	ENST00000511685,p.E1095K|uc003ivd.1,p.E1095K|uc003ive.1,p.E501K|ENST00000406950,p.E1095K|NM_001080477,p.E1095K	retained_intron, protein_coding, processed_transcript	uc003ive.1	nonsynonymous SNV	exon10	c.G1501A	p.E501K	YEYESCLDLTLWEKRTAILQGYELD	YEYESCLDLTLWKKRTAILQGYELD	1.0	9.0	unscreened	-	1913_4:183659601-183659601 G>A_YEYESCLDLTLWKKRTAILQGYELD
19:51506376-51506376 C>T	0.0	1913	MELANOMA	-	-	-	-	KLK9	ENST00000594211,p.M248I|ENST00000250366,p.M248I|uc002pux.1,p.M248I|ENST00000599166,p.M89I|NM_012315,p.M248I|uc010eol.1,p.M219I|ENST00000376832,p.M248I	nonsense_mediated_decay,protein_coding, nonsense_mediated_decay	uc010eol.1	nonsynonymous SNV	exon4	c.G657A	p.M219I	SVCHYLDWIQEIMEN	SVCHYLDWIQEIIEN	1.0	2.0	unscreened	-	1913_19:51506376-51506376 C>T_SVCHYLDWIQEIIEN
12:113831805-113831805 C>T	0.0	1913	MELANOMA	-	-	-	-	SDS	NM_006843,p.G224S|ENST00000257549,p.G224S|uc001tvg.3,p.G224S	retained_intron, protein_coding	uc001tvg.3	nonsynonymous SNV	exon7	c.G670A	p.G224S	SLPKITSVAKALGVKTVGAQALKLF	SLPKITSVAKALSVKTVGAQALKLF	2.0	1.0	unscreened	-	1913_12:113831805-113831805 C>T_SLPKITSVAKALSVKTVGAQALKLF
2:140990789-140990789 T>A	0.0	1913	MELANOMA	-	-	-	1	LRP1B	ENST00000389484,p.K4589I|uc002tvj.1,p.K4589I|NM_018557,p.K4589I	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon91	c.A13766T	p.K4589I	GSVDERKELLPKKIEIGIRETVA	GSVDERKELLPKIIEIGIRETVA	3.0	6.0	unscreened	-	1913_2:140990789-140990789 T>A_GSVDERKELLPKIIEIGIRETVA
7:137374690-137374690 G>A	0.0	1913	MELANOMA	-	-	-	-	DGKI	ENST00000424189,p.P154S|ENST00000446122,p.P154S|NM_004717,p.P154S|ENST00000288490,p.P154S|uc003vtt.3,p.P154S	retained_intron, protein_coding, processed_transcript	uc003vtt.3	nonsynonymous SNV	exon2	c.C460T	p.P154S	LQHLAPAHPLSLPVANGPAKEPRAT	LQHLAPAHPLSLSVANGPAKEPRAT	5.0	5.0	unscreened	-	1913_7:137374690-137374690 G>A_LQHLAPAHPLSLSVANGPAKEPRAT
3:49691580-49691580 G>T	1.0	1913	MELANOMA	-	-	-	-	BSN	uc003cxe.4,p.A1531S|ENST00000296452,p.A1531S|NM_003458,p.A1531S	retained_intron, protein_coding	uc003cxe.4	nonsynonymous SNV	exon5	c.G4591T	p.A1531S	RSPGAPTPSPMVAQGTQTPHRPSTP	RSPGAPTPSPMVSQGTQTPHRPSTP	5.0	2.0	unscreened	-	1913_3:49691580-49691580 G>T_RSPGAPTPSPMVSQGTQTPHRPSTP
10:92678704-92678704 A>T	0.0	1913	MELANOMA	-	-	-	-	ANKRD1	NM_014391,p.F124Y|ENST00000371697,p.F124Y|uc001khe.1,p.F124Y	protein_coding	uc001khe.1	nonsynonymous SNV	exon4	c.T371A	p.F124Y	PEIITEPVDVPTFLKAALENKLPVV	PEIITEPVDVPTYLKAALENKLPVV	1.0	6.0	unscreened	-	1913_10:92678704-92678704 A>T_PEIITEPVDVPTYLKAALENKLPVV
8:55533944-55533944 C>T	0.0	1913	MELANOMA	-	-	-	-	RP1	uc011ldy.1,p.H140Y|ENST00000220676,p.H140Y|uc003xsd.1,p.H140Y|NM_006269,p.H140Y	protein_coding	uc011ldy.1	nonsynonymous SNV	exon1	c.C418T	p.H140Y	LSSRAISAHSPPHPVAVAAPGMPRP	LSSRAISAHSPPYPVAVAAPGMPRP	1.0	8.0	unscreened	-	1913_8:55533944-55533944 C>T_LSSRAISAHSPPYPVAVAAPGMPRP
20:3245148-3245148 G>A	1.0	1913	MELANOMA	-	-	-	-	C20orf194	NM_001009984,p.L937F|uc002wik.2,p.L611F|ENST00000252032,p.L937F|uc002wii.3,p.L937F|uc002wij.3,p.L676F	protein_coding, processed_transcript	uc002wik.2	nonsynonymous SNV	exon26	c.C1831T	p.L611F	GIVTRNEDIELILSENSFSSPEMLR	GIVTRNEDIELIFSENSFSSPEMLR	6.0	4.0	unscreened	-	1913_20:3245148-3245148 G>A_GIVTRNEDIELIFSENSFSSPEMLR
7:102246396-102246396 C>T	1.0	1913	MELANOMA	-	-	-	-	RASA4,RASA4B	uc010lig.3,p.D41N|ENST00000520042,p.D41N|ENST00000461209,p.D41N|ENST00000262940,p.D113N|ENST00000449970,p.D113N|uc011kla.2,p.D41N|uc003vaf.3,p.D113N|ENST00000522801,p.D94N|NM_001079877,p.D113N|NM_001277335,p.D113N|uc011klb.2,p.D41N|uc003vae.3,p.D113N|NM_006989,p.D113N|ENST00000462172,p.D41N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011klb.2	nonsynonymous SNV	exon10	c.G121A	p.D41N	FSGWAHLTEVDPDEEVQGEIHLRLE	FSGWAHLTEVDPNEEVQGEIHLRLE	6.0	5.0	unscreened	-	1913_7:102246396-102246396 C>T_FSGWAHLTEVDPNEEVQGEIHLRLE
6:53706933-53706933 G>A	1.0	1913	MELANOMA	-	-	-	-	LRRC1	uc003pcd.1,p.R62Q|NM_018214,p.R62Q|ENST00000487251,p.R62Q|ENST00000370882,p.R62Q|ENST00000370888,p.R62Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc003pcd.1	nonsynonymous SNV	exon2	c.G185A	p.R62Q	ELPEQFFQLVKLRKLGLSDNEIQRL	ELPEQFFQLVKLQKLGLSDNEIQRL	6.0	1.0	unscreened	-	1913_6:53706933-53706933 G>A_ELPEQFFQLVKLQKLGLSDNEIQRL
11:74904268-74904268 C>T	0.0	1913	MELANOMA	-	-	-	-	SLCO2B1	ENST00000341411,p.P134S|uc010rrq.2,p.P106S|ENST00000289575,p.P361S|ENST00000428359,p.P339S|NM_001145212,p.P217S|ENST00000525650,p.P217S|uc001owc.3,p.P134S|NM_007256,p.P361S|uc010rrr.2,p.P217S|ENST00000531756,p.P106S|uc010rrs.2,p.P245S|uc001owd.3,p.P339S|NM_001145211,p.P339S|ENST00000532236,p.P245S|uc001owb.3,p.P361S|ENST00000454962,p.P134S	retained_intron, protein_coding, processed_transcript, TEC	uc010rrs.2	nonsynonymous SNV	exon7	c.C733T	p.P245S	PNLTVIQFIKVFPRVLLQTLRHPIF	PNLTVIQFIKVFSRVLLQTLRHPIF	1.0	8.0	unscreened	-	1913_11:74904268-74904268 C>T_PNLTVIQFIKVFSRVLLQTLRHPIF
19:54746180-54746180 A>T	0.0	1913	MELANOMA	-	-	-	-	LILRA6,LILRB3	uc002qeu.1,p.F26Y|uc002qew.2,p.F26Y|uc010erh.1,p.F26Y|ENST00000419410,p.F26Y|ENST00000430421,p.F26Y|uc002qel.1,p.F26Y|uc002qek.1,p.F26Y|ENST00000440558,p.F26Y|uc010yep.1,p.F26Y|uc002qei.1,p.F26Y|ENST00000396365,p.F26Y|uc002qes.1,p.F26Y|ENST00000407860,p.F26Y|uc002qep.1,p.F26Y|ENST00000245621,p.F26Y|ENST00000391735,p.F26Y|uc010yeq.1,p.F26Y|ENST00000270464,p.F26Y|uc002qeo.1,p.F26Y|uc002qeh.1,p.F26Y|uc002qeq.1,p.F26Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yeq.1	nonsynonymous SNV	exon3	c.T77A	p.F26Y	SLGPRTRVQAGPFPKPTLWAEPGSV	SLGPRTRVQAGPYPKPTLWAEPGSV	4.0	1.0	unscreened	-	1913_19:54746180-54746180 A>T_SLGPRTRVQAGPYPKPTLWAEPGSV
7:150171657-150171657 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1087225;OCCURENCE=1(endometrium)	-	GIMAP8	NM_175571,p.E414K|uc003whj.3,p.E414K|ENST00000307271,p.E414K	protein_coding	uc003whj.3	nonsynonymous SNV	exon4	c.G1240A	p.E414K	RATGEEEQRQADELLEKIESMVHQN	RATGEEEQRQADKLLEKIESMVHQN	1.0	6.0	unscreened	-	1913_7:150171657-150171657 G>A_RATGEEEQRQADKLLEKIESMVHQN
8:23429361-23429361 C>T	1.0	1913	MELANOMA	-	-	-	-	SLC25A37	NM_016612,p.P337L|uc003xdo.3,p.P337L|ENST00000519973,p.P337L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xdo.3	nonsynonymous SNV	exon4	c.C1010T	p.P337L	YFLTKRQLENRAPY	YFLTKRQLENRALY	9.0	4.0	unscreened	-	1913_8:23429361-23429361 C>T_YFLTKRQLENRALY
15:65490936-65490936 G>A	0.0	1913	MELANOMA	-	-	ID=COSM964027;OCCURENCE=1(endometrium)	-	CILP	ENST00000261883,p.A563V	protein_coding	ENST00000261883	nonsynonymous SNV	exon9	c.C1688T	p.A563V	TTKVLPFNKKGSAVFHEIKMLRRKK	TTKVLPFNKKGSVVFHEIKMLRRKK	2.0	2.0	unscreened	-	1913_15:65490936-65490936 G>A_TTKVLPFNKKGSVVFHEIKMLRRKK
12:3043713-3043713 G>T	1.0	1913	MELANOMA	-	-	-	-	TULP3	uc010sei.1,p.A161S	protein_coding, nonsense_mediated_decay	uc010sei.1	nonsynonymous SNV	exon6	c.G481T	p.A161S	GLVGAAHTRQELAAISYNHDSLLSR	GLVGAAHTRQELSAISYNHDSLLSR	9.0	8.0	unscreened	-	1913_12:3043713-3043713 G>T_GLVGAAHTRQELSAISYNHDSLLSR
19:55329824-55329824 G>A	0.0	1913	MELANOMA	-	-	-	-	KIR3DL1	ENST00000541392,p.G42E|ENST00000391728,p.G42E|ENST00000538269,p.G42E|uc002qhl.4,p.G42E|uc021vbm.1,p.G42E|ENST00000402254,p.G42E|ENST00000326542,p.G42E|NM_013289,p.G42E|uc021vbo.1,p.G42E|uc002qhk.4,p.G42E	protein_coding	uc021vbo.1	nonsynonymous SNV	exon3	c.G125A	p.G42E	FLSAWPSAVVPRGGHVTLRCHYRHR	FLSAWPSAVVPREGHVTLRCHYRHR	1.0	5.0	unscreened	-	1913_19:55329824-55329824 G>A_FLSAWPSAVVPREGHVTLRCHYRHR
11:64359345-64359345 C>T	0.0	1913	MELANOMA	-	-	-	-	SLC22A12	uc001oam.2,p.T106I|ENST00000377572,p.T106I|ENST00000377567,p.T106I|uc001oan.2,p.T106I|uc009ypr.1,p.T106I|ENST00000377574,p.T106I|uc009yps.2,p.T106I|NM_001276326,p.T106I|NM_144585,p.T106I|NM_001276327,p.T106I|ENST00000336464,p.T106I	protein_coding	uc009yps.2	nonsynonymous SNV	exon1	c.C317T	p.T106I	PQWQLLDPNATATSWSEADTEPCVD	PQWQLLDPNATAISWSEADTEPCVD	1.0	7.0	unscreened	-	1913_11:64359345-64359345 C>T_PQWQLLDPNATAISWSEADTEPCVD
19:53762788-53762788 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1176867;OCCURENCE=1(endometrium),1(large_intestine)	-	VN1R2	uc002qbi.2,p.R387Q|NM_173856,p.R387Q|ENST00000341702,p.R387Q	protein_coding, processed_transcript	uc002qbi.2	nonsynonymous SNV	exon1	c.G1160A	p.R387Q	SRLCSICCRRNRRFFHDFRKM	SRLCSICCRRNRQFFHDFRKM	1.0	2.0	unscreened	-	1913_19:53762788-53762788 G>A_SRLCSICCRRNRQFFHDFRKM
6:54191643-54191643 G>A	0.0	1913	MELANOMA	-	-	-	-	TINAG	ENST00000370864,p.E167K|ENST00000259782,p.E185K|ENST00000370869,p.E181K|NM_014464,p.E185K|uc003pcj.2,p.E185K	protein_coding, processed_transcript	uc003pcj.2	nonsynonymous SNV	exon4	c.G553A	p.E185K	AQNYSQFWGMTLEDGFKFRLGTLPP	AQNYSQFWGMTLKDGFKFRLGTLPP	1.0	3.0	unscreened	-	1913_6:54191643-54191643 G>A_AQNYSQFWGMTLKDGFKFRLGTLPP
1:162351743-162351743 T>A	0.0	1913	MELANOMA	-	-	-	-	C1orf226	uc001gby.2,p.S18T|ENST00000426197,p.S61T|NM_001085375,p.S18T|uc010pkt.1,p.S61T|ENST00000420220,p.S18T|ENST00000431696,p.S127T|ENST00000458626,p.S18T|NM_001135240,p.S61T	protein_coding	uc010pkt.1	nonsynonymous SNV	exon2	c.T181A	p.S61T	NTALTPKLQASRSFPHLSKPVAPGS	NTALTPKLQASRTFPHLSKPVAPGS	3.0	9.0	unscreened	-	1913_1:162351743-162351743 T>A_NTALTPKLQASRTFPHLSKPVAPGS
X:142718620-142718620 G>A	0.0	1913	MELANOMA	-	-	-	-	SLITRK4	ENST00000381779,p.A102V|uc004fbx.3,p.A102V|NM_173078,p.A102V|uc022cfm.1,p.A102V|uc022cfl.1,p.A102V|ENST00000356928,p.A102V|NM_001184749,p.A102V|ENST00000338017,p.A102V|NM_001184750,p.A102V|uc004fby.3,p.A102V	protein_coding	uc022cfm.1	nonsynonymous SNV	exon1	c.C305T	p.A102V	LGNNKLQNIEGGAFLGLSALKQLHL	LGNNKLQNIEGGVFLGLSALKQLHL	1.0	9.0	unscreened	-	1913_X:142718620-142718620 G>A_LGNNKLQNIEGGVFLGLSALKQLHL
2:206480439-206480439 G>A	1.0	1913	MELANOMA	-	-	-	-	PARD3B	ENST00000406610,p.E1174K|ENST00000358768,p.E1112K|uc002var.2,p.E1174K|uc002vao.2,p.E1073K|NM_057177,p.E1105K|ENST00000349953,p.E1073K|NM_205863,p.E1073K|uc002vap.2,p.E1112K|uc002vaq.2,p.E1105K|ENST00000351153,p.E1105K|NM_152526,p.E1112K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002var.2	nonsynonymous SNV	exon23	c.G3520A	p.E1174K	SPPQHQRMPAYQETGRPGPRGGSPD	SPPQHQRMPAYQKTGRPGPRGGSPD	4.0	6.0	unscreened	-	1913_2:206480439-206480439 G>A_SPPQHQRMPAYQKTGRPGPRGGSPD
10:5437328-5437328 C>T	0.0	1913	MELANOMA	-	-	-	-	TUBAL3	ENST00000479328,p.E80K|uc001ihy.3,p.E120K|ENST00000380419,p.E120K|NM_001171864,p.E80K|NM_024803,p.E120K|uc001ihz.3,p.E80K	protein_coding	uc001ihz.3	nonsynonymous SNV	exon3	c.G238A	p.E80K	NNYARGRYSVGSEVIDLVLERTRKL	NNYARGRYSVGSKVIDLVLERTRKL	1.0	5.0	unscreened	-	1913_10:5437328-5437328 C>T_NNYARGRYSVGSKVIDLVLERTRKL
6:166576090-166576090 C>T	0.0	1913	MELANOMA	-	-	-	-	T	ENST00000296946,p.G250E|uc003quu.2,p.G250E|NM_003181,p.G250E	protein_coding	uc003quu.2	nonsynonymous SNV	exon7	c.G749A	p.G250E	QPGYSQWGWLLPGTSTLCPPANPHP	QPGYSQWGWLLPETSTLCPPANPHP	1.0	4.0	unscreened	-	1913_6:166576090-166576090 C>T_QPGYSQWGWLLPETSTLCPPANPHP
6:166576090-166576090 C>T	0.0	1913	MELANOMA	-	-	-	-	T	uc003qut.2,p.G251E|ENST00000366876,p.G251E	protein_coding	uc003qut.2	nonsynonymous SNV	exon6	c.G752A	p.G251E	PGYSQSGGWLLPGTSTLCPPANPHP	PGYSQSGGWLLPETSTLCPPANPHP	1.0	4.0	unscreened	-	1913_6:166576090-166576090 C>T_PGYSQSGGWLLPETSTLCPPANPHP
22:44234846-44234846 C>T	0.0	1913	MELANOMA	-	-	-	-	SULT4A1	uc003bed.1,p.D58N|uc003bee.1,p.D137N|ENST00000249130,p.D137N|ENST00000422525,p.D137N|NM_014351,p.D137N|ENST00000330884,p.D137N	retained_intron, protein_coding, nonsense_mediated_decay	uc003bee.1	nonsynonymous SNV	exon4	c.G409A	p.D137N	DSKVIYMARNPKDLVVSYYQFHRSL	DSKVIYMARNPKNLVVSYYQFHRSL	1.0	4.0	unscreened	-	1913_22:44234846-44234846 C>T_DSKVIYMARNPKNLVVSYYQFHRSL
3:186460055-186460055 G>A	0.0	1913	MELANOMA	-	-	-	-	KNG1	NM_001102416,p.E624K|uc011bsa.2,p.E624K|ENST00000265023,p.E624K	protein_coding	uc011bsa.2	nonsynonymous SNV	exon10	c.G1870A	p.E624K	PKCPGRPWKSVSEINPTTQMKESYY	PKCPGRPWKSVSKINPTTQMKESYY	1.0	8.0	unscreened	-	1913_3:186460055-186460055 G>A_PKCPGRPWKSVSKINPTTQMKESYY
8:124975610-124975610 C>T	0.0	1913	MELANOMA	-	-	-	-	FER1L6	NM_001039112,p.P57S|uc003yqw.3,p.P57S|ENST00000522917,p.P57S|ENST00000399018,p.P57S	protein_coding	uc003yqw.3	nonsynonymous SNV	exon3	c.C169T	p.P57S	RGDLVHDDASIFPVPSASPKRRSKL	RGDLVHDDASIFSVPSASPKRRSKL	1.0	7.0	unscreened	-	1913_8:124975610-124975610 C>T_RGDLVHDDASIFSVPSASPKRRSKL
1:157514229-157514229 G>A	0.0	1913	MELANOMA	-	-	-	-	FCRL5	uc010phv.1,p.P223S|ENST00000368191,p.P138S|uc010phw.1,p.P138S|NM_031281,p.P223S|ENST00000356953,p.P223S|ENST00000368190,p.P223S|uc001fqu.3,p.P223S|ENST00000361835,p.P223S|uc009wsm.3,p.P223S|ENST00000368189,p.P223S|uc001fqv.1,p.P223S|NM_001195388,p.P223S	protein_coding, processed_transcript	uc010phw.1	nonsynonymous SNV	exon4	c.C412T	p.P138S	CETQLSLERSDVPLRFRFFRDDQTL	CETQLSLERSDVSLRFRFFRDDQTL	1.0	8.0	unscreened	-	1913_1:157514229-157514229 G>A_CETQLSLERSDVSLRFRFFRDDQTL
3:108183649-108183649 G>A	0.0	1913	MELANOMA	-	-	-	-	MYH15	ENST00000273353,p.L543F|uc003dxa.1,p.L543F|NM_014981,p.L543F	retained_intron, protein_coding, processed_transcript	uc003dxa.1	nonsynonymous SNV	exon16	c.C1627T	p.L543F	ACIDLIEKPMGILSILEEECMFPKA	ACIDLIEKPMGIFSILEEECMFPKA	1.0	9.0	unscreened	-	1913_3:108183649-108183649 G>A_ACIDLIEKPMGIFSILEEECMFPKA
7:77522959-77522959 C>G	1.0	1913	MELANOMA	-	-	-	-	PHTF2	uc022agp.1,p.S61C|ENST00000248550,p.S61C|uc003ugs.4,p.S61C	retained_intron, protein_coding, processed_transcript	uc022agp.1	nonsynonymous SNV	exon3	c.C182G	p.S61C	LIGAYDQQIWEKSVEQREIKFIKLG	LIGAYDQQIWEKCVEQREIKFIKLG	8.0	2.0	unscreened	-	1913_7:77522959-77522959 C>G_LIGAYDQQIWEKCVEQREIKFIKLG
7:77522959-77522959 C>G	1.0	1913	MELANOMA	-	-	-	-	PHTF2	uc003ugt.4,p.S27C|NM_001127359,p.S27C|ENST00000450574,p.S27C|ENST00000422959,p.S27C|NM_001127357,p.S27C|uc003ugr.4,p.S27C|ENST00000416283,p.S27C	retained_intron, protein_coding, processed_transcript	uc003ugt.4	nonsynonymous SNV	exon2	c.C80G	p.S27C	KIGAYDQQIWEKSVEQREIKFIKLG	KIGAYDQQIWEKCVEQREIKFIKLG	8.0	2.0	unscreened	-	1913_7:77522959-77522959 C>G_KIGAYDQQIWEKCVEQREIKFIKLG
8:25718726-25718726 C>T	0.0	1913	MELANOMA	-	-	-	-	EBF2	uc003xes.2,p.R394Q|ENST00000535548,p.R125Q|ENST00000408929,p.R246Q|NM_022659,p.R394Q|ENST00000520164,p.R394Q	retained_intron, protein_coding	uc003xes.2	nonsynonymous SNV	exon13	c.G1181A	p.R394Q	GTPHNNQDIILKRAADIAEALYSVP	GTPHNNQDIILKQAADIAEALYSVP	1.0	5.0	unscreened	-	1913_8:25718726-25718726 C>T_GTPHNNQDIILKQAADIAEALYSVP
11:108382758-108382758 C>G	0.0	1913	MELANOMA	-	-	-	-	EXPH5	uc010rvz.2,p.R1003T|NM_015065,p.R1159T|ENST00000525344,p.R1152T|uc010rvy.2,p.R971T|ENST00000428840,p.R1083T|uc001pkk.3,p.R1159T|ENST00000265843,p.R1159T|ENST00000533052,p.R971T|ENST00000526312,p.R1083T|ENST00000443411,p.R971T	protein_coding, processed_transcript	uc010rvz.2	nonsynonymous SNV	exon4	c.G3008C	p.R1003T	MDASELTPRAWERIISPVESDSSVR	MDASELTPRAWETIISPVESDSSVR	1.0	9.0	unscreened	-	1913_11:108382758-108382758 C>G_MDASELTPRAWETIISPVESDSSVR
1:207762119-207762119 G>A	0.0	1913	MELANOMA	-	-	-	-	CR1	ENST00000367052,p.G1487E|ENST00000367049,p.G1937E|NM_000651,p.G1937E|uc009xcl.1,p.G1037E|uc001hfx.3,p.G1937E|ENST00000534202,p.G1037E|ENST00000400960,p.G1487E|uc001hfy.3,p.G1487E|ENST00000367051,p.G1487E|uc021pij.1,p.G1487E|NM_000573,p.G1487E|ENST00000367053,p.G1487E	retained_intron, protein_coding, processed_transcript	uc021pij.1	nonsynonymous SNV	exon27	c.G4460A	p.G1487E	QFGSTVNYSCNEGFRLIGSPSTTCL	QFGSTVNYSCNEEFRLIGSPSTTCL	1.0	1.0	unscreened	-	1913_1:207762119-207762119 G>A_QFGSTVNYSCNEEFRLIGSPSTTCL
8:123965719-123965719 G>A	0.0	1913	MELANOMA	-	-	-	-	ZHX2	NM_014943,p.E657K|uc003ypk.1,p.E657K|ENST00000314393,p.E657K|uc022bag.1,p.E657K	protein_coding	uc022bag.1	nonsynonymous SNV	exon1	c.G1969A	p.E657K	STFARTQWPTPQEYDQLAAKTGLVR	STFARTQWPTPQKYDQLAAKTGLVR	3.0	6.0	unscreened	-	1913_8:123965719-123965719 G>A_STFARTQWPTPQKYDQLAAKTGLVR
18:29437581-29437581 C>T	1.0	1913	MELANOMA	-	-	-	-	TRAPPC8	uc002kxb.4,p.R983H|NM_014939,p.R1037H|ENST00000283351,p.R1037H|uc002kxc.4,p.R1037H|ENST00000582539,p.R983H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kxc.4	nonsynonymous SNV	exon20	c.G3110A	p.R1037H	LPGASVQLPMWLRGPDEEGVHEINF	LPGASVQLPMWLHGPDEEGVHEINF	8.0	1.0	unscreened	-	1913_18:29437581-29437581 C>T_LPGASVQLPMWLHGPDEEGVHEINF
6:124979360-124979360 T>C	0.0	1913	MELANOMA	-	-	ID=COSM3744907,COSM3744906;OCCURENCE=1(liver)	-	NKAIN2	ENST00000368417,p.I101T|NM_001300737,p.I100T|ENST00000545433,p.I86T|uc003pzn.1,p.I101T|ENST00000368416,p.I101T|NM_001040214,p.I101T|uc003pzo.3,p.I101T|uc003pzp.3,p.I100T	protein_coding, processed_transcript	uc003pzp.3	nonsynonymous SNV	exon5	c.T299C	p.I100T	LSKETDLILTFNISMHRSWWMENGP	LSKETDLILTFNTSMHRSWWMENGP	1.0	4.0	unscreened	-	1913_6:124979360-124979360 T>C_LSKETDLILTFNTSMHRSWWMENGP
6:124979360-124979360 T>C	0.0	1913	MELANOMA	-	-	ID=COSM3744907,COSM3744906;OCCURENCE=1(liver)	-	NKAIN2	uc010ker.3,p.I11T|NM_001300738,p.I11T	protein_coding, processed_transcript	uc010ker.3	nonsynonymous SNV	exon4	c.T32C	p.I11T	METDLILTFNISMHRSWWMENGP	METDLILTFNTSMHRSWWMENGP	1.0	4.0	unscreened	-	1913_6:124979360-124979360 T>C_METDLILTFNTSMHRSWWMENGP
13:20763326-20763326 A>G	0.0	1913	MELANOMA	-	-	-	-	GJB2	uc021rha.1,p.L132P|uc001umy.3,p.L132P|ENST00000382848,p.L132P|NM_004004,p.L132P|ENST00000382844,p.L132P	protein_coding	uc021rha.1	nonsynonymous SNV	exon1	c.T395C	p.L132P	EIKTQKVRIEGSLWWTYTSSIFFRV	EIKTQKVRIEGSPWWTYTSSIFFRV	1.0	9.0	unscreened	-	1913_13:20763326-20763326 A>G_EIKTQKVRIEGSPWWTYTSSIFFRV
1:22332271-22332271 G>A	0.0	1913	MELANOMA	-	-	-	-	CELA3A	uc001bfl.3,p.R115H|NM_005747,p.R115H|ENST00000290122,p.R115H	protein_coding	uc001bfl.3	nonsynonymous SNV	exon4	c.G344A	p.R115H	NSEELFVHPLWNRSCVACGNDIALI	NSEELFVHPLWNHSCVACGNDIALI	1.0	1.0	unscreened	-	1913_1:22332271-22332271 G>A_NSEELFVHPLWNHSCVACGNDIALI
1:248004654-248004654 G>C	0.0	1913	MELANOMA	-	-	-	-	OR11L1	NM_001001959,p.P182R|ENST00000355784,p.P182R|uc001idn.1,p.P182R	protein_coding	uc001idn.1	nonsynonymous SNV	exon1	c.C545G	p.P182R	GRNQINHFFCDLPPLMQLSCSRVYI	GRNQINHFFCDLRPLMQLSCSRVYI	1.0	2.0	unscreened	-	1913_1:248004654-248004654 G>C_GRNQINHFFCDLRPLMQLSCSRVYI
1:34663110-34663110 C>T	0.0	1913	MELANOMA	-	-	-	-	C1orf94	ENST00000488417,p.S202F|NM_001134734,p.S202F|uc001bxt.3,p.S202F	protein_coding	uc001bxt.3	nonsynonymous SNV	exon2	c.C605T	p.S202F	AMPVISSRQDCDSATSTVTDILCAA	AMPVISSRQDCDFATSTVTDILCAA	1.0	1.0	unscreened	-	1913_1:34663110-34663110 C>T_AMPVISSRQDCDFATSTVTDILCAA
3:97466301-97466301 C>T	0.0	1913	MELANOMA	-	-	-	-	EPHA6	ENST00000389672,p.P1055S|uc010how.1,p.P1055S|NM_001080448,p.P1055S	protein_coding, nonsense_mediated_decay	uc010how.1	nonsynonymous SNV	exon17	c.C3163T	p.P1055S	VMPESPGEVPEYPLFVTVGDWLDSI	VMPESPGEVPEYSLFVTVGDWLDSI	1.0	1.0	unscreened	-	1913_3:97466301-97466301 C>T_VMPESPGEVPEYSLFVTVGDWLDSI
1:248129235-248129235 C>T	0.0	1913	MELANOMA	-	-	-	-	OR2AK2	NM_001004491,p.S201L|ENST00000366480,p.S201L|uc010pzd.2,p.S201L	protein_coding	uc010pzd.2	nonsynonymous SNV	exon1	c.C602T	p.S201L	INHFFCEVPALLSLVCQDTSQYEYT	INHFFCEVPALLLLVCQDTSQYEYT	1.0	2.0	unscreened	-	1913_1:248129235-248129235 C>T_INHFFCEVPALLLLVCQDTSQYEYT
14:60921780-60921780 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1607804;OCCURENCE=2(liver)	-	C14orf39	ENST00000321731,p.R481K|uc001xez.4,p.R481K|NM_174978,p.R481K|uc010apo.3,p.R192K	protein_coding, nonsense_mediated_decay	uc010apo.3	nonsynonymous SNV	exon11	c.G575A	p.R192K	SPGLSFLMSYTSRSPGLNLFDSSVF	SPGLSFLMSYTSKSPGLNLFDSSVF	4.0	7.0	unscreened	-	1913_14:60921780-60921780 C>T_SPGLSFLMSYTSKSPGLNLFDSSVF
16:89753195-89753195 C>T	1.0	1913	MELANOMA	-	-	-	-	CDK10	ENST00000510811,p.P26L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000510811	nonsynonymous SNV	exon1	c.C77T	p.P26L	KCIRKEGFFTVPPEHRIGPGTPRQM	KCIRKEGFFTVPLEHRIGPGTPRQM	9.0	4.0	unscreened	-	1913_16:89753195-89753195 C>T_KCIRKEGFFTVPLEHRIGPGTPRQM
5:131607595-131607595 G>A	1.0	1913	MELANOMA	-	-	-	-	PDLIM4	uc003kwn.3,p.G261D|NM_003687,p.G261D|ENST00000253754,p.G261D|uc003kwo.3,p.G369D	retained_intron, protein_coding, processed_transcript	uc003kwo.3	nonsynonymous SNV	exon5	c.G1106A	p.G369D	LQGLPECTRCGHGIVGTIVKARDKL	LQGLPECTRCGHDIVGTIVKARDKL	5.0	3.0	unscreened	-	1913_5:131607595-131607595 G>A_LQGLPECTRCGHDIVGTIVKARDKL
19:9084437-9084437 C>T	0.0	1913	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.E2460K|NM_024690,p.E2460K|ENST00000397910,p.E2460K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.G7378A	p.E2460K	STLPPFTITHPVETSSALLAWSRPV	STLPPFTITHPVKTSSALLAWSRPV	1.0	2.0	unscreened	-	1913_19:9084437-9084437 C>T_STLPPFTITHPVKTSSALLAWSRPV
3:97868349-97868349 G>A	0.0	1913	MELANOMA	-	-	-	-	OR5H14	NM_001005514,p.M40I|uc003dsg.1,p.M40I|ENST00000437310,p.M40I	protein_coding	uc003dsg.1	nonsynonymous SNV	exon1	c.G120A	p.M40I	FLAFLVIYLITIMGNLGLIAVIWKD	FLAFLVIYLITIIGNLGLIAVIWKD	1.0	2.0	unscreened	-	1913_3:97868349-97868349 G>A_FLAFLVIYLITIIGNLGLIAVIWKD
1:209800885-209800885 G>A	1.0	1913	MELANOMA	0.0014	-	-	-	LAMB3	ENST00000391911,p.P443L|NM_000228,p.P443L|uc001hhh.3,p.P443L|uc001hhg.3,p.P443L|NM_001127641,p.P443L|ENST00000356082,p.P443L|uc009xco.3,p.P443L|ENST00000367030,p.P443L|NM_001017402,p.P443L	protein_coding	uc009xco.3	nonsynonymous SNV	exon12	c.C1328T	p.P443L	CDCNILGSRRDMPCDEESGRCLCLP	CDCNILGSRRDMLCDEESGRCLCLP	5.0	1.0	unscreened	-	1913_1:209800885-209800885 G>A_CDCNILGSRRDMLCDEESGRCLCLP
17:72338769-72338769 G>A	0.0	1913	MELANOMA	-	-	-	-	KIF19	uc002jkk.2,p.E78K|uc002jkj.2,p.E78K|NM_153209,p.E78K|uc002jkl.2,p.E78K|ENST00000389916,p.E78K|ENST00000551294,p.E78K|uc002jkm.4,p.E78K	retained_intron, protein_coding	uc002jkm.4	nonsynonymous SNV	exon4	c.G232A	p.E78K	LFDVAFDFTATQEMVYQATTKSLIE	LFDVAFDFTATQKMVYQATTKSLIE	1.0	4.0	unscreened	-	1913_17:72338769-72338769 G>A_LFDVAFDFTATQKMVYQATTKSLIE
19:9058428-9058428 G>A	0.0	1913	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.S9673F|ENST00000397910,p.S9673F|NM_024690,p.S9673F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C29018T	p.S9673F	TITTQTGYSLATSQVTLPLGTSMTF	TITTQTGYSLATFQVTLPLGTSMTF	1.0	2.0	unscreened	-	1913_19:9058428-9058428 G>A_TITTQTGYSLATFQVTLPLGTSMTF
7:137154359-137154359 C>T	0.0	1913	MELANOMA	-	-	-	-	DGKI	uc003vtu.3,p.E512K|ENST00000446122,p.E794K|ENST00000453654,p.E512K|NM_004717,p.E812K|uc003vtt.3,p.E812K|ENST00000424189,p.E815K|ENST00000288490,p.E812K	retained_intron, protein_coding, processed_transcript	uc003vtu.3	nonsynonymous SNV	exon25	c.G1534A	p.E512K	SSGSQRVHYQDHETSFPRALSAQRL	SSGSQRVHYQDHKTSFPRALSAQRL	5.0	4.0	unscreened	-	1913_7:137154359-137154359 C>T_SSGSQRVHYQDHKTSFPRALSAQRL
5:140573740-140573740 C>T	1.0	1913	MELANOMA	-	-	-	-	PCDHB10	ENST00000239446,p.P539S|uc003lix.3,p.P539S|NM_018930,p.P539S	protein_coding	uc003lix.3	nonsynonymous SNV	exon1	c.C1615T	p.P539S	FEFRVGATDRGSPALSREALVRVLV	FEFRVGATDRGSSALSREALVRVLV	4.0	2.0	unscreened	-	1913_5:140573740-140573740 C>T_FEFRVGATDRGSSALSREALVRVLV
19:9060013-9060013 A>C	0.0	1913	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.S9145A|ENST00000397910,p.S9145A|NM_024690,p.S9145A	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.T27433G	p.S9145A	LSHPSVEEASSASFSLSSPVMTSSS	LSHPSVEEASSAAFSLSSPVMTSSS	1.0	1.0	unscreened	-	1913_19:9060013-9060013 A>C_LSHPSVEEASSAAFSLSSPVMTSSS
10:15689022-15689022 G>A	0.0	1913	MELANOMA	-	-	-	-	ITGA8	uc001ioc.1,p.L344F|uc010qcb.1,p.L329F|NM_003638,p.L344F|NM_001291494,p.L329F|ENST00000378076,p.L344F	protein_coding, processed_transcript	uc010qcb.1	nonsynonymous SNV	exon11	c.C985T	p.L329F	SDGLDDVLVGAPLFMEREFESNPRE	SDGLDDVLVGAPFFMEREFESNPRE	1.0	7.0	unscreened	-	1913_10:15689022-15689022 G>A_SDGLDDVLVGAPFFMEREFESNPRE
14:88407792-88407792 C>T	1.0	1913	MELANOMA	-	-	-	-	GALC	uc010tvy.2,p.G571E|ENST00000393569,p.G568E|uc010tvx.2,p.G568E|ENST00000544807,p.G538E|ENST00000393568,p.G571E|NM_000153,p.G594E|uc010tvz.1,p.G538E|ENST00000555000,p.G383E|NM_001201401,p.G571E|uc001xvt.3,p.G594E|NM_001201402,p.G568E|ENST00000261304,p.G594E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tvz.1	nonsynonymous SNV	exon15	c.G1613A	p.G538E	VNKGGILIRSARGIFFWIFANGSYR	VNKGGILIRSAREIFFWIFANGSYR	7.0	3.0	unscreened	-	1913_14:88407792-88407792 C>T_VNKGGILIRSAREIFFWIFANGSYR
11:22747878-22747878 C>T	0.0	1913	MELANOMA	-	-	-	-	GAS2	ENST00000524701,p.P103L|uc009yie.3,p.P103L|ENST00000454584,p.P103L|uc001mqm.3,p.P103L|ENST00000534801,p.P103L|NM_005256,p.P103L|uc001mqo.3,p.P103L|NM_001143830,p.P103L|ENST00000533363,p.P103L|ENST00000532398,p.P103L|ENST00000528582,p.P103L|ENST00000433790,p.P103L|ENST00000278187,p.P103L|NM_177553,p.P103L	protein_coding, processed_transcript, nonsense_mediated_decay	uc009yie.3	nonsynonymous SNV	exon4	c.C308T	p.P103L	LPLKKIPCKTSAPSGSFFARDNTAN	LPLKKIPCKTSALSGSFFARDNTAN	4.0	8.0	unscreened	-	1913_11:22747878-22747878 C>T_LPLKKIPCKTSALSGSFFARDNTAN
19:22586296-22586296 C>T	0.0	1913	MELANOMA	-	-	-	-	ZNF98	ENST00000593802,p.D112N	protein_coding, processed_transcript	ENST00000593802	nonsynonymous SNV	exon3	c.G334A	p.D112N	LGQPCMGVLTFRDVALEFSLEEWQC	LGQPCMGVLTFRNVALEFSLEEWQC	1.0	2.0	unscreened	-	1913_19:22586296-22586296 C>T_LGQPCMGVLTFRNVALEFSLEEWQC
7:82390001-82390001 T>A	0.0	1913	MELANOMA	-	-	-	-	PCLO	uc003uhx.2,p.N5081I|ENST00000333891,p.N5081I|NM_033026,p.N5081I	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon24	c.A15242T	p.N5081I	TRVCRHDREPSFNETFRFSLSPAGH	TRVCRHDREPSFIETFRFSLSPAGH	1.0	4.0	unscreened	-	1913_7:82390001-82390001 T>A_TRVCRHDREPSFIETFRFSLSPAGH
3:130095259-130095259 C>T	0.0	1913	MELANOMA	-	-	-	-	COL6A5	NM_001278298,p.H83Y|ENST00000432398,p.H83Y|uc010htk.2,p.H83Y|NM_153264,p.H83Y|ENST00000265379,p.H83Y|ENST00000312481,p.H83Y|uc010htj.2,p.H83Y	protein_coding, nonsense_mediated_decay	uc010htk.2	nonsynonymous SNV	exon3	c.C247T	p.H83Y	LAQYSDEFHSEFHLSTFKGRSPMLN	LAQYSDEFHSEFYLSTFKGRSPMLN	1.0	9.0	unscreened	-	1913_3:130095259-130095259 C>T_LAQYSDEFHSEFYLSTFKGRSPMLN
X:19410591-19410591 C>T	0.0	1913	MELANOMA	-	-	-	-	MAP3K15	ENST00000338883,p.G732E|ENST00000469203,p.G564E|uc004czj.2,p.G167E|uc022btq.1,p.G732E|uc004czk.2,p.G207E|NM_001001671,p.G732E|ENST00000359173,p.G167E	retained_intron, protein_coding, processed_transcript	uc022btq.1	nonsynonymous SNV	exon17	c.G2195A	p.G732E	GYIKIFMEQVPGGSLSALLRSKWGP	GYIKIFMEQVPGESLSALLRSKWGP	5.0	9.0	unscreened	-	1913_X:19410591-19410591 C>T_GYIKIFMEQVPGESLSALLRSKWGP
5:140788763-140788763 A>G	0.0	1913	MELANOMA	-	-	-	-	PCDHGB6	NM_018926,p.K332E|uc003lkj.2,p.K332E|NM_032100,p.K332E|uc003lki.1,p.K332E|ENST00000520790,p.K332E	protein_coding	uc003lkj.2	nonsynonymous SNV	exon1	c.A994G	p.K332E	EAKDGGGLSTQCKVIIEILDENDNS	EAKDGGGLSTQCEVIIEILDENDNS	1.0	8.0	unscreened	-	1913_5:140788763-140788763 A>G_EAKDGGGLSTQCEVIIEILDENDNS
1:216498675-216498675 G>A	0.0	1913	MELANOMA	-	-	-	-	USH2A	NM_206933,p.S372L|ENST00000307340,p.S372L|NM_007123,p.S372L|uc001hku.1,p.S372L|ENST00000366942,p.S372L|ENST00000366943,p.S372L|uc001hkv.3,p.S372L	retained_intron, protein_coding	uc001hkv.3	nonsynonymous SNV	exon6	c.C1115T	p.S372L	TNITQLNQGVTISVDLENGQYQVFY	TNITQLNQGVTILVDLENGQYQVFY	1.0	9.0	unscreened	-	1913_1:216498675-216498675 G>A_TNITQLNQGVTILVDLENGQYQVFY
17:56388450-56388450 G>A	0.0	1913	MELANOMA	-	-	-	-	BZRAP1	uc010dcs.4,p.S1009F|NM_024418,p.S1009F|ENST00000343736,p.S1069F|ENST00000355701,p.S1069F|uc002ivx.5,p.S1069F|uc010wnt.3,p.S1069F|NM_004758,p.S1069F|NM_001261835,p.S1069F|ENST00000268893,p.S1009F	retained_intron, protein_coding	uc010wnt.3	nonsynonymous SNV	exon19	c.C3206T	p.S1069F	VRTMSPHGESADSIPAPITPALAPA	VRTMSPHGESADFIPAPITPALAPA	2.0	6.0	unscreened	-	1913_17:56388450-56388450 G>A_VRTMSPHGESADFIPAPITPALAPA
7:47840356-47840356 C>T	1.0	1913	MELANOMA	-	-	-	-	PKD1L1	NM_138295,p.R2695K|ENST00000289672,p.R2695K|uc003tny.2,p.R2695K	retained_intron, protein_coding, processed_transcript	uc003tny.2	nonsynonymous SNV	exon54	c.G8084A	p.R2695K	TDAFPGLLFHFPRRSQKDCLLGLSK	TDAFPGLLFHFPKRSQKDCLLGLSK	4.0	5.0	unscreened	-	1913_7:47840356-47840356 C>T_TDAFPGLLFHFPKRSQKDCLLGLSK
19:22586296-22586296 C>T	0.0	1913	MELANOMA	-	-	-	-	ZNF98	NM_001098626,p.D17N|uc002nqt.2,p.D17N|ENST00000601553,p.D17N|ENST00000357774,p.D17N	protein_coding, processed_transcript	uc002nqt.2	nonsynonymous SNV	exon2	c.G49A	p.D17N	LGSLEMGVLTFRDVALEFSLEEWQC	LGSLEMGVLTFRNVALEFSLEEWQC	1.0	2.0	unscreened	-	1913_19:22586296-22586296 C>T_LGSLEMGVLTFRNVALEFSLEEWQC
14:20389004-20389004 A>T	0.0	1913	MELANOMA	-	-	-	-	OR4K5	NM_001005483,p.K80I|ENST00000315915,p.K80I|uc010tkw.2,p.K80I	protein_coding	uc010tkw.2	nonsynonymous SNV	exon1	c.A239T	p.K80I	FVDICQASFATPKMIADFLSAHETI	FVDICQASFATPIMIADFLSAHETI	1.0	1.0	unscreened	-	1913_14:20389004-20389004 A>T_FVDICQASFATPIMIADFLSAHETI
6:152809557-152809557 C>T	0.0	1913	MELANOMA	-	-	-	-	SYNE1	NM_182961,p.E341K|uc031sql.1,p.E348K|ENST00000423061,p.E348K|ENST00000367253,p.E341K|NM_033071,p.E348K|ENST00000341594,p.E341K|uc010kjb.1,p.E324K|ENST00000367248,p.E331K|ENST00000367255,p.E341K|ENST00000448038,p.E348K|ENST00000537750,p.E324K|ENST00000413186,p.E341K|uc003qou.4,p.E341K|ENST00000466159,p.E341K|ENST00000265368,p.E341K|uc003qpa.1,p.E341K|uc003qot.4,p.E348K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031sql.1	nonsynonymous SNV	exon13	c.G1042A	p.E348K	QFERDLTRAQMVESNLQDKYQSFKH	QFERDLTRAQMVKSNLQDKYQSFKH	8.0	2.0	unscreened	-	1913_6:152809557-152809557 C>T_QFERDLTRAQMVKSNLQDKYQSFKH
1:1854931-1854931 G>A	0.0	1913	MELANOMA	-	-	-	-	TMEM52,CFAP74	uc001aik.3,p.S132F|ENST00000493964,p.S749F|uc001ail.3,p.S132F	retained_intron, protein_coding, processed_transcript	uc001ail.3	nonsynonymous SNV	exon7	c.C395T	p.S132F	DKLQVVLFEKKISHQILLKGAACQH	DKLQVVLFEKKIFHQILLKGAACQH	1.0	3.0	unscreened	-	1913_1:1854931-1854931 G>A_DKLQVVLFEKKIFHQILLKGAACQH
15:95019964-95019964 C>T	0.0	1913	MELANOMA	-	-	-	-	MCTP2	uc002btj.3,p.S837F|NM_018349,p.S837F|uc010boj.3,p.S566F|NM_001159643,p.S782F|uc010bok.3,p.S782F|uc002btl.3,p.S425F|ENST00000357742,p.S837F|ENST00000451018,p.S782F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bok.3	nonsynonymous SNV	exon19	c.C2345T	p.S782F	INKFTKKLRNPYSIDNNELLDFLSR	INKFTKKLRNPYFIDNNELLDFLSR	1.0	9.0	unscreened	-	1913_15:95019964-95019964 C>T_INKFTKKLRNPYFIDNNELLDFLSR
2:71576106-71576106 C>T	1.0	1913	MELANOMA	-	-	-	-	ZNF638	uc010fec.2,p.P114S	retained_intron, protein_coding, processed_transcript	uc010fec.2	nonsynonymous SNV	exon2	c.C340T	p.P114S	FLKIAMSRPRFNPRGDFPLQRPRAP	FLKIAMSRPRFNSRGDFPLQRPRAP	10.0	6.0	unscreened	-	1913_2:71576106-71576106 C>T_FLKIAMSRPRFNSRGDFPLQRPRAP
11:67190964-67190964 T>C	0.0	1913	MELANOMA	-	-	-	-	CARNS1	ENST00000423745,p.L459S|uc009yrp.3,p.L459S|uc001olc.4,p.L598S|ENST00000307823,p.L459S|ENST00000445895,p.L582S|ENST00000531040,p.L556S|uc010rpr.2,p.L582S|NM_020811,p.L459S|NM_001166222,p.L582S|uc021qmh.1,p.L17S	retained_intron, protein_coding, processed_transcript	uc021qmh.1	nonsynonymous SNV	exon1	c.T50C	p.L17S	RRDEENARLLAELVRARGLKLDGCF	RRDEENARLLAESVRARGLKLDGCF	2.0	1.0	unscreened	-	1913_11:67190964-67190964 T>C_RRDEENARLLAESVRARGLKLDGCF
4:9784024-9784024 C>T	0.0	1913	MELANOMA	-	-	-	-	DRD5	uc003gmb.4,p.S124F|NM_000798,p.S124F|ENST00000304374,p.S124F	protein_coding	uc003gmb.4	nonsynonymous SNV	exon1	c.C371T	p.S124F	FCDVWVAFDIMCSTASILNLCVISV	FCDVWVAFDIMCFTASILNLCVISV	1.0	9.0	unscreened	-	1913_4:9784024-9784024 C>T_FCDVWVAFDIMCFTASILNLCVISV
9:129958872-129958872 T>C	1.0	1913	MELANOMA	-	-	-	-	RALGPS1	ENST00000259351,p.L386P|NM_014636,p.L386P|uc004bqo.2,p.L386P	protein_coding, processed_transcript	uc004bqo.2	nonsynonymous SNV	exon13	c.T1157C	p.L386P	VLESRSPRRGLALTSSSAVTNGLSL	VLESRSPRRGLAPTSSSAVTNGLSL	5.0	9.0	unscreened	-	1913_9:129958872-129958872 T>C_VLESRSPRRGLAPTSSSAVTNGLSL
4:183674648-183674648 C>T	0.0	1913	MELANOMA	-	-	-	-	TENM3	uc003ivd.1,p.T1303I|ENST00000406950,p.T1303I|uc003ive.1,p.T716I|NM_001080477,p.T1303I|ENST00000511685,p.T1303I	retained_intron, protein_coding, processed_transcript	uc003ive.1	nonsynonymous SNV	exon14	c.C2147T	p.T716I	VDKNGLIYFVDGTMIRKVDQNGIIS	VDKNGLIYFVDGIMIRKVDQNGIIS	1.0	9.0	unscreened	-	1913_4:183674648-183674648 C>T_VDKNGLIYFVDGIMIRKVDQNGIIS
11:64519924-64519924 G>A	0.0	1913	MELANOMA	-	-	-	-	PYGM	NM_005609,p.S524F|uc001oax.4,p.S524F|NM_001164716,p.S436F|ENST00000377432,p.S436F|ENST00000164139,p.S524F|uc001oay.4,p.S436F	retained_intron, protein_coding, processed_transcript	uc001oay.4	nonsynonymous SNV	exon11	c.C1307T	p.S436F	FISDLDQLRKLLSFVDDEAFIRDVA	FISDLDQLRKLLFFVDDEAFIRDVA	3.0	1.0	unscreened	-	1913_11:64519924-64519924 G>A_FISDLDQLRKLLFFVDDEAFIRDVA
4:121958447-121958447 C>T	0.0	1913	MELANOMA	-	-	-	-	NDNF	uc003idq.1,p.V227M|ENST00000379692,p.V227M|NM_024574,p.V227M	protein_coding, processed_transcript	uc003idq.1	nonsynonymous SNV	exon4	c.G679A	p.V227M	INKEHNFKSLCAVEAKLSADDAFMM	INKEHNFKSLCAMEAKLSADDAFMM	1.0	9.0	unscreened	-	1913_4:121958447-121958447 C>T_INKEHNFKSLCAMEAKLSADDAFMM
11:7334787-7334787 C>T	0.0	1913	MELANOMA	-	-	-	-	SYT9	NM_175733,p.A220V|ENST00000396716,p.A188V|ENST00000524820,p.A188V|ENST00000318881,p.A220V|uc001mfe.3,p.A220V	protein_coding, processed_transcript, nonsense_mediated_decay	uc001mfe.3	nonsynonymous SNV	exon3	c.C659T	p.A220V	LDNDDGRRSNSKACGKLNFILKYDC	LDNDDGRRSNSKVCGKLNFILKYDC	1.0	2.0	unscreened	-	1913_11:7334787-7334787 C>T_LDNDDGRRSNSKVCGKLNFILKYDC
2:228886507-228886507 G>A	0.0	1913	MELANOMA	-	-	-	-	SPHKAP	ENST00000392056,p.S206F|NM_001142644,p.S206F|ENST00000344657,p.S206F|uc002vpp.2,p.S206F|NM_030623,p.S206F|uc010zlx.1,p.S206F|uc002vpq.2,p.S206F	retained_intron, protein_coding	uc010zlx.1	nonsynonymous SNV	exon6	c.C617T	p.S206F	TNILKLEDDTNCSLSSIEEDFLTAS	TNILKLEDDTNCFLSSIEEDFLTAS	1.0	4.0	unscreened	-	1913_2:228886507-228886507 G>A_TNILKLEDDTNCFLSSIEEDFLTAS
7:100678298-100678298 C>T	0.0	1913	MELANOMA	-	-	-	-	MUC17	uc003uxp.1,p.P1201S|NM_001040105,p.P1201S|ENST00000306151,p.P1201S|ENST00000379439,p.P1201S	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.C3601T	p.P1201S	TQVATSTEASSPPPTAEVTSMPTST	TQVATSTEASSPSPTAEVTSMPTST	1.0	6.0	unscreened	-	1913_7:100678298-100678298 C>T_TQVATSTEASSPSPTAEVTSMPTST
5:141694447-141694447 G>A	1.0	1913	MELANOMA	-	-	-	-	SPRY4	ENST00000344120,p.P99L|NM_001127496,p.P76L|uc021yet.1,p.P76L|uc003lml.2,p.P76L|NM_001293289,p.P76L|uc010jgi.1,p.P99L|NM_030964,p.P99L|ENST00000434127,p.P76L|NM_001293290,p.P76L	protein_coding, processed_transcript	uc021yet.1	nonsynonymous SNV	exon1	c.C227T	p.P76L	PKRTRGGAPELAPTPARCDQDVTHH	PKRTRGGAPELALTPARCDQDVTHH	10.0	8.0	unscreened	-	1913_5:141694447-141694447 G>A_PKRTRGGAPELALTPARCDQDVTHH
20:29632672-29632672 C>T	0.0	1913	MELANOMA	-	-	-	-	FRG1B	ENST00000358464,p.L163F|uc010ztk.1,p.L85F|ENST00000278882,p.L163F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ztk.1	nonsynonymous SNV	exon4	c.C253T	p.L85F	HKLKISKEESKILKKAQKDGFLHET	HKLKISKEESKIFKKAQKDGFLHET	8.0	1.0	unscreened	-	1913_20:29632672-29632672 C>T_HKLKISKEESKIFKKAQKDGFLHET
9:21304817-21304817 A>C	0.0	1913	MELANOMA	-	-	-	-	IFNA5	ENST00000259555,p.F147V|NM_002169,p.F147V|uc011lnh.2,p.F147V	protein_coding	uc011lnh.2	nonsynonymous SNV	exon1	c.T439G	p.F147V	MNVDSILTVRKYFQRITLYLTEKKY	MNVDSILTVRKYVQRITLYLTEKKY	1.0	9.0	unscreened	-	1913_9:21304817-21304817 A>C_MNVDSILTVRKYVQRITLYLTEKKY
1:114523766-114523766 C>T	0.0	1913	MELANOMA	-	-	-	-	OLFML3	uc001eet.1,p.S55F|uc001ees.1,p.S179F|ENST00000320334,p.S199F|ENST00000393300,p.S179F|uc001eer.1,p.S199F|NM_001286352,p.S179F|NM_001286353,p.S138F|ENST00000369551,p.S179F|NM_020190,p.S199F	protein_coding, processed_transcript	uc001eet.1	nonsynonymous SNV	exon2	c.C164T	p.S55F	RDFTLAMAARKASRVRVPFPWVGTG	RDFTLAMAARKAFRVRVPFPWVGTG	1.0	9.0	unscreened	-	1913_1:114523766-114523766 C>T_RDFTLAMAARKAFRVRVPFPWVGTG
5:140174748-140174748 G>A	0.0	1913	MELANOMA	0.01	-	-	-	PCDHA2	uc003lhd.2,p.A67T|ENST00000378132,p.A67T|ENST00000520672,p.A67T|ENST00000526136,p.A67T|NM_018905,p.A67T|NM_031495,p.A67T|uc011czy.2,p.A67T|uc003lhc.1,p.A67T|NM_031496,p.A67T	protein_coding	uc011czy.2	nonsynonymous SNV	exon1	c.G199A	p.A67T	ELEELVPRLFRVASKRHGDLLEVNL	ELEELVPRLFRVTSKRHGDLLEVNL	1.0	1.0	unscreened	-	1913_5:140174748-140174748 G>A_ELEELVPRLFRVTSKRHGDLLEVNL
19:15079255-15079255 C>T	0.0	1913	MELANOMA	-	-	-	-	SLC1A6	uc002nad.1,p.M136I|NM_001272087,p.M136I|uc002nac.4,p.M136I|ENST00000221742,p.M136I|uc002nab.4,p.M136I|ENST00000598504,p.M136I|NM_005071,p.M136I|uc010dzu.2,p.M136I|ENST00000597262,p.M136I|NM_001272088,p.M136I|ENST00000600144,p.M136I|uc002naa.2,p.M136I|ENST00000544886,p.M136I	retained_intron, protein_coding	uc010dzu.2	nonsynonymous SNV	exon4	c.G408A	p.M136I	TGRMGMRAAVYYMVTTIIAVFIGIL	TGRMGMRAAVYYIVTTIIAVFIGIL	1.0	2.0	unscreened	-	1913_19:15079255-15079255 C>T_TGRMGMRAAVYYIVTTIIAVFIGIL
10:26436362-26436362 C>T	0.0	1913	MELANOMA	-	-	-	-	MYO3A	NM_017433,p.L837F|uc001isn.2,p.L837F|ENST00000265944,p.L837F|uc009xko.1,p.L837F	protein_coding, processed_transcript	uc009xko.1	nonsynonymous SNV	exon23	c.C2509T	p.L837F	LSFGIHHYAGKVLYNASGFLAKNRD	LSFGIHHYAGKVFYNASGFLAKNRD	1.0	4.0	unscreened	-	1913_10:26436362-26436362 C>T_LSFGIHHYAGKVFYNASGFLAKNRD
12:72343424-72343424 G>A	0.0	1913	MELANOMA	-	-	-	-	TPH2	ENST00000333850,p.M199I|uc001swy.2,p.M109I|uc009zrw.1,p.M199I|NM_173353,p.M199I	protein_coding, processed_transcript, nonsense_mediated_decay	uc009zrw.1	nonsynonymous SNV	exon5	c.G597A	p.M199I	YRQRRKYFVDVAMGYKYGQPIPRVE	YRQRRKYFVDVAIGYKYGQPIPRVE	1.0	7.0	unscreened	-	1913_12:72343424-72343424 G>A_YRQRRKYFVDVAIGYKYGQPIPRVE
14:105063453-105063453 G>A	0.0	1913	MELANOMA	-	-	-	-	TMEM179	ENST00000556573,p.S106F|NM_001286389,p.S106F|uc001yox.1,p.S106F|ENST00000341595,p.S106F|NM_001286390,p.S106F|ENST00000415614,p.S106F	protein_coding	uc001yox.1	nonsynonymous SNV	exon2	c.C317T	p.S106F	FFLCKGHEGSFFSAFLNLLVSAFVV	FFLCKGHEGSFFFAFLNLLVSAFVV	1.0	1.0	unscreened	-	1913_14:105063453-105063453 G>A_FFLCKGHEGSFFFAFLNLLVSAFVV
3:108475947-108475947 G>A	0.0	1913	MELANOMA	-	-	-	-	RETNLB	ENST00000295755,p.S29F|NM_032579,p.S29F|uc003dxh.2,p.S29F	protein_coding, processed_transcript	uc003dxh.2	nonsynonymous SNV	exon1	c.C86T	p.S29F	LINPGSTQCSLDSVMDKKIKDVLNS	LINPGSTQCSLDFVMDKKIKDVLNS	1.0	2.0	unscreened	-	1913_3:108475947-108475947 G>A_LINPGSTQCSLDFVMDKKIKDVLNS
17:10364285-10364285 C>T	0.0	1913	MELANOMA	-	-	-	-	MYH4	uc002gmn.3,p.M365I|NM_017533,p.M365I|ENST00000255381,p.M365I	protein_coding	uc002gmn.3	nonsynonymous SNV	exon12	c.G1095A	p.M365I	YKLTGAVMHYGNMKFKQKQREEQAE	YKLTGAVMHYGNIKFKQKQREEQAE	1.0	5.0	unscreened	-	1913_17:10364285-10364285 C>T_YKLTGAVMHYGNIKFKQKQREEQAE
4:158254453-158254453 G>A	0.0	1913	MELANOMA	-	-	-	-	GRIA2	ENST00000507898,p.R321K|ENST00000449365,p.R321K|uc003ipm.4,p.R368K|ENST00000393815,p.R321K|uc011cit.2,p.R321K|NM_000826,p.R368K|ENST00000296526,p.R368K|NM_001083619,p.R368K|ENST00000323661,p.R321K|ENST00000264426,p.R368K|uc003ipl.4,p.R368K|uc003ipk.4,p.R321K|NM_001083620,p.R321K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cit.2	nonsynonymous SNV	exon8	c.G962A	p.R321K	LSGNIKFDQNGKRINYTINIMELKT	LSGNIKFDQNGKKINYTINIMELKT	1.0	9.0	unscreened	-	1913_4:158254453-158254453 G>A_LSGNIKFDQNGKKINYTINIMELKT
2:36994333-36994333 C>T	0.0	1913	MELANOMA	-	-	-	-	VIT	NM_001177970,p.A195V|uc010ezw.3,p.A195V|uc010ezv.3,p.A195V|ENST00000401530,p.A195V|NM_053276,p.A195V|NM_001177969,p.A195V|uc002rpm.3,p.A195V|ENST00000379242,p.A195V|ENST00000404084,p.A173V|ENST00000379241,p.A195V|uc002rpl.3,p.A195V|NM_001177971,p.A195V|ENST00000389975,p.A195V	protein_coding	uc010ezw.3	nonsynonymous SNV	exon7	c.C584T	p.A195V	TLMQLLAVTVAVATPTTLPRPSPSA	TLMQLLAVTVAVVTPTTLPRPSPSA	1.0	7.0	unscreened	-	1913_2:36994333-36994333 C>T_TLMQLLAVTVAVVTPTTLPRPSPSA
11:5410752-5410752 C>T	0.0	1913	MELANOMA	-	-	-	-	OR51M1	NM_001004756,p.P42S|uc010qzc.2,p.P42S|ENST00000328611,p.P42S	protein_coding	uc010qzc.2	nonsynonymous SNV	exon1	c.C124T	p.P42S	PGLEGIKHWIFIPFFFMYMVAISGN	PGLEGIKHWIFISFFFMYMVAISGN	1.0	2.0	unscreened	-	1913_11:5410752-5410752 C>T_PGLEGIKHWIFISFFFMYMVAISGN
5:140237177-140237177 A>T	0.0	1913	MELANOMA	-	-	-	-	PCDHA10	ENST00000307360,p.K515M|NM_031859,p.K515M|uc003lhw.2,p.K515M|uc011dad.2,p.K515M|ENST00000506939,p.K515M|uc003lhx.2,p.K515M|NM_031860,p.K515M|NM_018901,p.K515M	protein_coding	uc011dad.2	nonsynonymous SNV	exon1	c.A1544T	p.K515M	LSSYVSVHAESGKVYALQPLDHEEL	LSSYVSVHAESGMVYALQPLDHEEL	1.0	7.0	unscreened	-	1913_5:140237177-140237177 A>T_LSSYVSVHAESGMVYALQPLDHEEL
6:167754797-167754797 C>T	0.0	1913	MELANOMA	-	-	-	-	TTLL2	ENST00000515138,p.S470F|ENST00000239587,p.S470F|uc003qvs.1,p.S470F|NM_031949,p.S470F	protein_coding, nonsense_mediated_decay	uc003qvs.1	nonsynonymous SNV	exon3	c.C1409T	p.S470F	LSFTSRMYNEDDSVVEKAVSVRPEA	LSFTSRMYNEDDFVVEKAVSVRPEA	1.0	5.0	unscreened	-	1913_6:167754797-167754797 C>T_LSFTSRMYNEDDFVVEKAVSVRPEA
19:38027951-38027951 T>A	0.0	1913	MELANOMA	-	-	-	-	ZNF793	NM_001013659,p.S131T|ENST00000587143,p.S131T|ENST00000542455,p.S131T|uc010xts.2,p.S131T|ENST00000445217,p.S131T|uc010efm.3,p.S131T	protein_coding, nonsense_mediated_decay	uc010xts.2	nonsynonymous SNV	exon6	c.T391A	p.S131T	FGKISLLSTDLFSSIQSPSNWNPCG	FGKISLLSTDLFTSIQSPSNWNPCG	3.0	9.0	unscreened	-	1913_19:38027951-38027951 T>A_FGKISLLSTDLFTSIQSPSNWNPCG
6:128150966-128150966 C>T	0.0	1913	MELANOMA	-	-	-	-	THEMIS	ENST00000368250,p.D43N|ENST00000537166,p.D87N|uc021zfa.1,p.D122N|NM_001164687,p.D87N|NM_001010923,p.D122N|uc011ebt.2,p.D122N|uc010kfb.3,p.D87N|ENST00000543064,p.D122N|uc010kfa.3,p.D25N|NM_001164685,p.D122N|ENST00000368248,p.D122N	protein_coding	uc021zfa.1	nonsynonymous SNV	exon3	c.G364A	p.D122N	SRLGHPCFYHQKDIKLENLIIKQGE	SRLGHPCFYHQKNIKLENLIIKQGE	1.0	1.0	unscreened	-	1913_6:128150966-128150966 C>T_SRLGHPCFYHQKNIKLENLIIKQGE
12:86373347-86373347 G>A	0.0	1913	MELANOMA	-	-	-	-	MGAT4C	uc001tal.4,p.P386L|uc001tak.4,p.P386L|ENST00000393205,p.P415L|uc001tai.4,p.P386L|ENST00000604798,p.P386L|ENST00000548651,p.P386L|ENST00000552808,p.P386L|uc001taj.4,p.P386L|NM_013244,p.P386L|ENST00000547225,p.P386L|uc001tah.4,p.P386L|ENST00000332156,p.P386L|ENST00000549405,p.P386L|uc010sum.2,p.P410L	protein_coding, processed_transcript	uc010sum.2	nonsynonymous SNV	exon6	c.C1229T	p.P410L	STGDVFVIVFENPIIIKKIKVNTGT	STGDVFVIVFENLIIIKKIKVNTGT	1.0	1.0	unscreened	-	1913_12:86373347-86373347 G>A_STGDVFVIVFENLIIIKKIKVNTGT
1:245772625-245772625 C>T	0.0	1913	MELANOMA	-	-	-	-	KIF26B	NM_018012,p.P570L|uc001ibf.1,p.P570L|uc001ibg.1,p.P188L|ENST00000366518,p.P189L|ENST00000407071,p.P570L|uc010pyq.1,p.P570L	retained_intron, protein_coding, processed_transcript	uc010pyq.1	nonsynonymous SNV	exon8	c.C1709T	p.P570L	GKDDSMQNLGIIPCAISWLFKLINE	GKDDSMQNLGIILCAISWLFKLINE	4.0	4.0	unscreened	-	1913_1:245772625-245772625 C>T_GKDDSMQNLGIILCAISWLFKLINE
X:36103466-36103466 C>T	0.0	1913	MELANOMA	-	-	ID=COSM3406336;OCCURENCE=1(central_nervous_system)	-	CHDC2	ENST00000378660,p.S151L|NM_173695,p.S151L|uc004ddk.1,p.S151L|ENST00000313548,p.S151L	protein_coding	uc004ddk.1	nonsynonymous SNV	exon5	c.C452T	p.S151L	RDVYKMQFYSSTSPPQKFSRQNDFS	RDVYKMQFYSSTLPPQKFSRQNDFS	1.0	9.0	unscreened	-	1913_X:36103466-36103466 C>T_RDVYKMQFYSSTLPPQKFSRQNDFS
11:60233487-60233487 T>A	0.0	1913	MELANOMA	-	-	-	-	MS4A1	uc001npp.3,p.S144T|ENST00000345732,p.S144T|uc009ymz.3,p.S144T|uc009yna.3,p.S144T|uc001npq.3,p.S144T|ENST00000534668,p.S144T|ENST00000532073,p.S144T|NM_152866,p.S144T|NM_021950,p.S144T|ENST00000389939,p.S144T	retained_intron, protein_coding, processed_transcript	uc009yna.3	nonsynonymous SNV	exon5	c.T430A	p.S144T	ILSIMDILNIKISHFLKMESLNFIR	ILSIMDILNIKITHFLKMESLNFIR	2.0	1.0	unscreened	-	1913_11:60233487-60233487 T>A_ILSIMDILNIKITHFLKMESLNFIR
5:71495549-71495549 C>T	1.0	1913	MELANOMA	-	-	-	-	MAP1B	uc003kbw.4,p.L2123F|uc010iyx.1,p.L1997F|uc010iyy.1,p.L1997F|NM_005909,p.L2123F|uc010iyw.1,p.L2140F|ENST00000296755,p.L2123F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010iyy.1	nonsynonymous SNV	exon4	c.C5989T	p.L1997F	ASEEPTEESEKPLTQSGGAPPPPGG	ASEEPTEESEKPFTQSGGAPPPPGG	8.0	8.0	unscreened	-	1913_5:71495549-71495549 C>T_ASEEPTEESEKPFTQSGGAPPPPGG
11:66475055-66475055 G>A	0.0	1913	MELANOMA	-	-	-	-	SPTBN2	ENST00000533211,p.L529F|NM_006946,p.L529F|ENST00000529997,p.L529F|ENST00000309996,p.L529F|uc001ojd.3,p.L529F	retained_intron, protein_coding	uc001ojd.3	nonsynonymous SNV	exon12	c.C1585T	p.L529F	RQMVAARRERLLLNLELQKVFQDLL	RQMVAARRERLLFNLELQKVFQDLL	4.0	5.0	unscreened	-	1913_11:66475055-66475055 G>A_RQMVAARRERLLFNLELQKVFQDLL
2:212537981-212537981 C>T	0.0	1913	MELANOMA	-	-	ID=COSM131770;OCCURENCE=1(skin)	1	ERBB4	ENST00000342788,p.E542K|uc010fut.1,p.E542K|uc010zji.1,p.E542K|uc002veg.1,p.E542K|uc010zjj.1,p.E542K|NM_005235,p.E542K|NM_001042599,p.E542K|uc002veh.1,p.E542K|ENST00000402597,p.E542K|ENST00000436443,p.E542K	retained_intron, protein_coding, processed_transcript	uc010zjj.1	nonsynonymous SNV	exon14	c.G1624A	p.E542K	RICIESCNLYDGEFREFENGSICVE	RICIESCNLYDGKFREFENGSICVE	2.0	5.0	unscreened	-	1913_2:212537981-212537981 C>T_RICIESCNLYDGKFREFENGSICVE
9:126202644-126202644 C>T	1.0	1913	MELANOMA	-	-	-	-	DENND1A	ENST00000373618,p.G463R|uc004boc.3,p.G463R	protein_coding, processed_transcript	uc004boc.3	nonsynonymous SNV	exon18	c.G1387A	p.G463R	LREDRRPITVHFGQAL	LREDRRPITVHFRQAL	7.0	4.0	unscreened	-	1913_9:126202644-126202644 C>T_LREDRRPITVHFRQAL
2:234526916-234526916 C>T	0.0	1913	MELANOMA	-	-	-	-	UGT1A8	uc010zmv.1,p.S188F|NM_019076,p.S188F|ENST00000373450,p.S188F|uc002vup.3,p.S188F	protein_coding	uc010zmv.1	nonsynonymous SNV	exon1	c.C563T	p.S188F	YLEEGAQCPAPLSYVPRILLGFSDA	YLEEGAQCPAPLFYVPRILLGFSDA	1.0	5.0	unscreened	-	1913_2:234526916-234526916 C>T_YLEEGAQCPAPLFYVPRILLGFSDA
5:35968221-35968221 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1695599;OCCURENCE=1(skin)	-	UGT3A1	uc011cor.2,p.E37K|ENST00000507113,p.E37K	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cor.2	nonsynonymous SNV	exon2	c.G109A	p.E37K	ILTISTLDIKEEEKSYQVIRWFSPE	ILTISTLDIKEEKKSYQVIRWFSPE	2.0	1.0	unscreened	-	1913_5:35968221-35968221 C>T_ILTISTLDIKEEKKSYQVIRWFSPE
3:101090884-101090884 A>T	1.0	1913	MELANOMA	-	-	-	-	SENP7	NM_001077203,p.I190N|ENST00000358203,p.I91N|ENST00000394094,p.I190N|ENST00000314261,p.I189N|ENST00000394095,p.I255N|uc003duw.3,p.I189N|NM_001282801,p.I189N|NM_001282803,p.I91N|uc003dut.3,p.I255N|ENST00000394091,p.I91N|NM_020654,p.I255N|NM_001282802,p.I222N|ENST00000348610,p.I222N|uc003duu.3,p.I190N|uc003duv.3,p.I222N|uc003dux.3,p.I91N	retained_intron, protein_coding	uc003dux.3	nonsynonymous SNV	exon4	c.T272A	p.I91N	AHNKEKRRKDDGISLLISDTQPEDL	AHNKEKRRKDDGNSLLISDTQPEDL	7.0	8.0	unscreened	-	1913_3:101090884-101090884 A>T_AHNKEKRRKDDGNSLLISDTQPEDL
8:20007227-20007227 G>A	0.0	1913	MELANOMA	-	-	-	-	SLC18A1	uc011kyq.2,p.S369F|NM_001142325,p.S369F|ENST00000440926,p.S369F|ENST00000437980,p.S369F|NM_003053,p.S369F|ENST00000381608,p.S369F|ENST00000517776,p.S369F|NM_001135691,p.S369F|uc011kyr.2,p.S369F|uc003wzn.3,p.S337F|ENST00000276373,p.S369F|ENST00000265808,p.S337F|ENST00000519026,p.S337F|uc003wzm.3,p.S369F|NM_001142324,p.S337F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kyr.2	nonsynonymous SNV	exon13	c.C1106T	p.S369F	GVLANKMGRWLCSLIGMLVVGTSLL	GVLANKMGRWLCFLIGMLVVGTSLL	1.0	6.0	unscreened	-	1913_8:20007227-20007227 G>A_GVLANKMGRWLCFLIGMLVVGTSLL
7:64439627-64439627 G>A	1.0	1913	MELANOMA	-	-	-	-	ZNF117	ENST00000282869,p.H108Y|NM_015852,p.H108Y|uc003ttr.2,p.H108Y	retained_intron, protein_coding	uc003ttr.2	nonsynonymous SNV	exon4	c.C322T	p.H108Y	SNRHKMRHTENKHFKCKECRKTFCM	SNRHKMRHTENKYFKCKECRKTFCM	5.0	3.0	unscreened	-	1913_7:64439627-64439627 G>A_SNRHKMRHTENKYFKCKECRKTFCM
15:35083365-35083365 G>A	0.0	1913	MELANOMA	-	-	-	-	ACTC1	ENST00000290378,p.R314C|NM_005159,p.R314C|uc001ziu.1,p.R314C	retained_intron, protein_coding, processed_transcript	uc001ziu.1	nonsynonymous SNV	exon6	c.C940T	p.R314C	SGGTTMYPGIADRMQKEITALAPST	SGGTTMYPGIADCMQKEITALAPST	1.0	9.0	unscreened	-	1913_15:35083365-35083365 G>A_SGGTTMYPGIADCMQKEITALAPST
5:38923350-38923350 G>A	0.0	1913	MELANOMA	-	-	-	-	OSMR	uc003jln.2,p.E622K|ENST00000274276,p.E622K|NM_003999,p.E622K	protein_coding, nonsense_mediated_decay	uc003jln.2	nonsynonymous SNV	exon13	c.G1864A	p.E622K	ACLLEKKTGYSQELAPSDNPHVLVD	ACLLEKKTGYSQKLAPSDNPHVLVD	1.0	9.0	unscreened	-	1913_5:38923350-38923350 G>A_ACLLEKKTGYSQKLAPSDNPHVLVD
11:7847260-7847260 C>T	0.0	1913	MELANOMA	-	-	-	-	OR5P3	uc010rbg.2,p.R87K|NM_153445,p.R87K|ENST00000328375,p.R87K	protein_coding	uc010rbg.2	nonsynonymous SNV	exon1	c.G260A	p.R87K	SSVTPVMLMSFLRKETSLPVAGCVA	SSVTPVMLMSFLKKETSLPVAGCVA	1.0	3.0	unscreened	-	1913_11:7847260-7847260 C>T_SSVTPVMLMSFLKKETSLPVAGCVA
6:7584648-7584648 C>T	0.0	1913	MELANOMA	-	-	-	-	DSP	NM_004415,p.R2385C|ENST00000418664,p.R1786C|uc021yle.1,p.R1942C|uc003mxq.1,p.R1786C|NM_001008844,p.R1786C|ENST00000379802,p.R2385C|uc003mxp.1,p.R2385C	retained_intron, protein_coding	uc021yle.1	nonsynonymous SNV	exon24	c.C5824T	p.R1942C	ATGGIIDPKESHRLPVDIAYKRGYF	ATGGIIDPKESHCLPVDIAYKRGYF	1.0	5.0	unscreened	-	1913_6:7584648-7584648 C>T_ATGGIIDPKESHCLPVDIAYKRGYF
10:124458884-124458884 C>T	0.0	1913	MELANOMA	-	-	-	-	C10orf120	ENST00000329446,p.G74E|NM_001010912,p.G74E|uc001lgn.3,p.G74E	protein_coding	uc001lgn.3	nonsynonymous SNV	exon2	c.G221A	p.G74E	SKFYRSDPRIALGKYSPLEKEILRL	SKFYRSDPRIALEKYSPLEKEILRL	1.0	6.0	unscreened	-	1913_10:124458884-124458884 C>T_SKFYRSDPRIALEKYSPLEKEILRL
3:97983751-97983751 C>T	0.0	1913	MELANOMA	-	-	-	-	OR5H6	NM_001005479,p.S208F|ENST00000383696,p.S208F|uc003dsi.1,p.S208F	protein_coding	uc003dsi.1	nonsynonymous SNV	exon1	c.C623T	p.S208F	DIIPLLKISCTDSSINFLMVFIFAG	DIIPLLKISCTDFSINFLMVFIFAG	1.0	1.0	unscreened	-	1913_3:97983751-97983751 C>T_DIIPLLKISCTDFSINFLMVFIFAG
9:73167809-73167809 G>C	0.0	1913	MELANOMA	-	-	-	-	TRPM3	uc004ahv.3,p.C965W|ENST00000357533,p.C1167W|ENST00000396280,p.C1012W|uc004ahw.3,p.C1035W|uc004aid.3,p.C1163W|NM_206947,p.C1025W|NM_001007471,p.C1163W|ENST00000396285,p.C1022W|uc004ahy.3,p.C1025W|uc004ahx.3,p.C1022W|NM_206946,p.C1035W|uc004aib.3,p.C1000W|uc004aia.3,p.C1010W|ENST00000423814,p.C1190W|ENST00000377110,p.C1163W|ENST00000377105,p.C1022W|ENST00000360823,p.C1025W|ENST00000408909,p.C1022W|NM_206945,p.C1012W|ENST00000358082,p.C1025W|ENST00000377111,p.C1163W|ENST00000377106,p.C1035W|uc004ahu.3,p.C1005W|NM_024971,p.C1022W|NM_020952,p.C1010W|ENST00000396292,p.C1035W|uc004aic.3,p.C1163W|NM_206944,p.C1000W|uc004ahz.3,p.C1012W	retained_intron, protein_coding, processed_transcript	uc004aid.3	nonsynonymous SNV	exon23	c.C3489G	p.C1163W	FSHMTMIFQHLCCRWRKHESDPDER	FSHMTMIFQHLCWRWRKHESDPDER	4.0	6.0	unscreened	-	1913_9:73167809-73167809 G>C_FSHMTMIFQHLCWRWRKHESDPDER
11:5510595-5510595 C>T	0.0	1913	MELANOMA	-	-	-	-	OR52D1	NM_001005163,p.S220F|ENST00000322641,p.S220F|uc010qzg.2,p.S220F	protein_coding	uc010qzg.2	nonsynonymous SNV	exon1	c.C659T	p.S220F	LAMGLDSILIAISYGFILHAVFHLP	LAMGLDSILIAIFYGFILHAVFHLP	1.0	8.0	unscreened	-	1913_11:5510595-5510595 C>T_LAMGLDSILIAIFYGFILHAVFHLP
19:694901-694901 G>A	0.0	1913	MELANOMA	-	-	-	-	PRSS57	ENST00000329267,p.S50F|uc010xfs.1,p.S49F|uc002lpl.1,p.S50F|NM_214710,p.S50F	protein_coding	uc010xfs.1	nonsynonymous SNV	exon2	c.C146T	p.S49F	HEVTPHSRPYMASVRFGGQHHCGGF	HEVTPHSRPYMAFVRFGGQHHCGGF	1.0	6.0	unscreened	-	1913_19:694901-694901 G>A_HEVTPHSRPYMAFVRFGGQHHCGGF
3:101090884-101090884 A>T	1.0	1913	MELANOMA	-	-	-	-	SENP7	NM_001282804,p.I157N	retained_intron, protein_coding	NM_001282804	nonsynonymous SNV	exon5	c.T470A	p.I157N	AHNKEKRRKDDGISLLISDTQPEGL	AHNKEKRRKDDGNSLLISDTQPEGL	7.0	8.0	unscreened	-	1913_3:101090884-101090884 A>T_AHNKEKRRKDDGNSLLISDTQPEGL
2:98916582-98916582 G>A	0.0	1913	MELANOMA	-	-	-	-	VWA3B	uc002syp.1,p.G500E|NM_144992,p.G1108E|uc002syr.1,p.G425E|uc010yvi.1,p.G765E|uc002syo.3,p.G1108E|uc002syq.1,p.G384E|ENST00000477737,p.G1108E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yvi.1	nonsynonymous SNV	exon19	c.G2294A	p.G765E	GDYVFAKIVIPKGFDFYVPAIVIAL	GDYVFAKIVIPKEFDFYVPAIVIAL	3.0	5.0	unscreened	-	1913_2:98916582-98916582 G>A_GDYVFAKIVIPKEFDFYVPAIVIAL
10:129864396-129864396 G>A	1.0	1913	MELANOMA	-	-	-	-	PTPRE	uc001lkb.3,p.V261M|uc010quq.1,p.V162M|uc001lkd.3,p.V203M|NM_130435,p.V203M|ENST00000479896,p.V203M|NM_006504,p.V261M|uc009yau.2,p.V261M|ENST00000254667,p.V261M|ENST00000306042,p.V203M|ENST00000419012,p.V261M|uc009yat.3,p.V272M	protein_coding, processed_transcript	uc010quq.1	nonsynonymous SNV	exon6	c.G484A	p.V162M	PDQGCWTYGNIRVCVEDCVVLVDYT	PDQGCWTYGNIRMCVEDCVVLVDYT	4.0	7.0	unscreened	-	1913_10:129864396-129864396 G>A_PDQGCWTYGNIRMCVEDCVVLVDYT
14:95053862-95053862 G>T	0.0	1913	MELANOMA	-	-	-	-	SERPINA5	NM_000624,p.A55S|ENST00000557598,p.A55S|ENST00000329597,p.A55S|ENST00000554760,p.A55S|uc001ydm.3,p.A55S|ENST00000556775,p.A55S|ENST00000553511,p.A55S|ENST00000554276,p.A55S|ENST00000554220,p.A55S|ENST00000555681,p.A55S|uc001ydn.1,p.A55S|uc010ave.3,p.A55S|ENST00000554633,p.A55S|ENST00000554866,p.A55S|ENST00000553780,p.A55S	retained_intron, protein_coding	uc010ave.3	nonsynonymous SNV	exon2	c.G163T	p.A55S	SSRRDFTFDLYRALASAAPSQSIFF	SSRRDFTFDLYRSLASAAPSQSIFF	3.0	1.0	unscreened	-	1913_14:95053862-95053862 G>T_SSRRDFTFDLYRSLASAAPSQSIFF
6:10894417-10894417 C>T	0.0	1913	MELANOMA	0.0005	-	ID=COSM1228096;OCCURENCE=1(large_intestine)	-	SYCP2L	NM_001040274,p.R106W|ENST00000283141,p.R106W|ENST00000341041,p.R106W|uc003mzo.3,p.R106W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003mzo.3	nonsynonymous SNV	exon4	c.C316T	p.R106W	VDGLKEDEPLLIRQGLIPKLVSWFE	VDGLKEDEPLLIWQGLIPKLVSWFE	3.0	9.0	unscreened	-	1913_6:10894417-10894417 C>T_VDGLKEDEPLLIWQGLIPKLVSWFE
21:32253710-32253710 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1681921;OCCURENCE=3(haematopoietic_and_lymphoid_tissue)	-	KRTAP11-1	uc002yov.3,p.S45F|ENST00000332378,p.S45F|NM_175858,p.S45F	protein_coding	uc002yov.3	nonsynonymous SNV	exon1	c.C134T	p.S45F	DADCLGGICLPSSFQTGSWLLDHCQ	DADCLGGICLPSFFQTGSWLLDHCQ	1.0	5.0	unscreened	-	1913_21:32253710-32253710 G>A_DADCLGGICLPSFFQTGSWLLDHCQ
2:77746642-77746642 G>A	0.0	1913	MELANOMA	-	-	-	-	LRRTM4	ENST00000409911,p.S119F|uc002snr.3,p.S118F|NM_024993,p.S118F|uc002snt.2,p.S119F|ENST00000409088,p.S118F|uc002snq.3,p.S118F|ENST00000409884,p.S118F|NM_001282928,p.S119F|ENST00000409093,p.S118F|uc002sns.2,p.S118F|ENST00000409282,p.S119F|NM_001134745,p.S118F|NM_001282924,p.S118F	protein_coding, processed_transcript	uc002snt.2	nonsynonymous SNV	exon2	c.C356T	p.S119F	QGIRRLKELILSSNKITYLHNKTFH	QGIRRLKELILSFNKITYLHNKTFH	3.0	3.0	unscreened	-	1913_2:77746642-77746642 G>A_QGIRRLKELILSFNKITYLHNKTFH
8:110100348-110100348 C>T	0.0	1913	MELANOMA	-	-	-	-	TRHR	NM_003301,p.P203S|uc003ymz.4,p.P203S|ENST00000311762,p.P203S|ENST00000518632,p.P203S	protein_coding	uc003ymz.4	nonsynonymous SNV	exon1	c.C607T	p.P203S	IYLMDFGVFYVVPMILATVLYGFIA	IYLMDFGVFYVVSMILATVLYGFIA	1.0	7.0	unscreened	-	1913_8:110100348-110100348 C>T_IYLMDFGVFYVVSMILATVLYGFIA
X:2933190-2933190 C>T	0.0	1913	MELANOMA	-	-	-	-	ARSH	ENST00000381130,p.L174F|NM_001011719,p.L174F|uc011mhj.2,p.L174F	protein_coding	uc011mhj.2	nonsynonymous SNV	exon4	c.C520T	p.L174F	WLRIKLWISTVALALVPFLLLIPKF	WLRIKLWISTVAFALVPFLLLIPKF	1.0	9.0	unscreened	-	1913_X:2933190-2933190 C>T_WLRIKLWISTVAFALVPFLLLIPKF
3:89478287-89478287 G>A	0.0	1913	MELANOMA	-	-	-	2	EPHA3	ENST00000336596,p.M702I|ENST00000494014,p.M702I|uc003dqy.3,p.M702I|NM_005233,p.M702I|uc021xbf.1,p.M702I	protein_coding	uc021xbf.1	nonsynonymous SNV	exon12	c.G2106A	p.M702I	TKSKPVMIVTEYMENGSLDSFLRKH	TKSKPVMIVTEYIENGSLDSFLRKH	7.0	9.0	unscreened	-	1913_3:89478287-89478287 G>A_TKSKPVMIVTEYIENGSLDSFLRKH
14:95053861-95053861 G>T	0.0	1913	MELANOMA	-	-	-	-	SERPINA5	ENST00000554633,p.R54S|NM_000624,p.R54S|ENST00000553780,p.R54S|ENST00000553511,p.R54S|ENST00000554760,p.R54S|ENST00000555681,p.R54S|ENST00000554866,p.R54S|ENST00000554220,p.R54S|uc001ydm.3,p.R54S|ENST00000554276,p.R54S|ENST00000557598,p.R54S|ENST00000329597,p.R54S|uc010ave.3,p.R54S|ENST00000556775,p.R54S|uc001ydn.1,p.R54S	retained_intron, protein_coding	uc010ave.3	nonsynonymous SNV	exon2	c.G162T	p.R54S	PSSRRDFTFDLYRALASAAPSQSIF	PSSRRDFTFDLYSALASAAPSQSIF	3.0	1.0	unscreened	-	1913_14:95053861-95053861 G>T_PSSRRDFTFDLYSALASAAPSQSIF
19:44103343-44103343 G>A	1.0	1913	MELANOMA	-	-	-	-	ZNF576	NM_024327,p.G149D|uc002owz.2,p.G149D|ENST00000391965,p.G149D|ENST00000529930,p.G149D|ENST00000528387,p.G149D|uc002owy.2,p.G149D|ENST00000533118,p.G149D|ENST00000525771,p.G149D|ENST00000336564,p.G149D|NM_001145347,p.G149D	retained_intron, protein_coding	uc002owz.2	nonsynonymous SNV	exon3	c.G446A	p.G149D	RAPPGTFACTECGQDFAQEAGLHQH	RAPPGTFACTECDQDFAQEAGLHQH	7.0	5.0	unscreened	-	1913_19:44103343-44103343 G>A_RAPPGTFACTECDQDFAQEAGLHQH
19:52216726-52216726 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1325086;OCCURENCE=1(ovary)	-	HAS1	uc002pxo.1,p.R564Q|NM_001297436,p.R563Q|uc002pxp.1,p.R563Q|uc010epc.1,p.R164Q|ENST00000222115,p.R564Q|ENST00000540069,p.R563Q|ENST00000601714,p.R571Q|NM_001523,p.R564Q|uc002pxn.1,p.R571Q	protein_coding	uc010epc.1	nonsynonymous SNV	exon2	c.G491A	p.R164Q	WVAMLTLYWVGVRRLCRRRTGGYRV	WVAMLTLYWVGVQRLCRRRTGGYRV	1.0	5.0	unscreened	-	1913_19:52216726-52216726 C>T_WVAMLTLYWVGVQRLCRRRTGGYRV
3:33195459-33195459 T>G	0.0	1913	MELANOMA	-	-	-	-	SUSD5	ENST00000309558,p.E222A|NM_015551,p.E222A|uc003cfo.1,p.E222A	protein_coding	uc003cfo.1	nonsynonymous SNV	exon5	c.A665C	p.E222A	DNFPDDRSVSFRELMEDSRTEADED	DNFPDDRSVSFRALMEDSRTEADED	5.0	2.0	unscreened	-	1913_3:33195459-33195459 T>G_DNFPDDRSVSFRALMEDSRTEADED
8:53852837-53852837 C>T	0.0	1913	MELANOMA	-	-	-	-	NPBWR1	ENST00000331251,p.L124F|NM_005285,p.L124F|uc011ldu.2,p.L124F	protein_coding	uc011ldu.2	nonsynonymous SNV	exon1	c.C370T	p.L124F	IVAIDQYNTFSSLYFLTVMSADRYL	IVAIDQYNTFSSFYFLTVMSADRYL	1.0	4.0	unscreened	-	1913_8:53852837-53852837 C>T_IVAIDQYNTFSSFYFLTVMSADRYL
19:54746180-54746180 A>T	0.0	1913	MELANOMA	-	-	-	-	LILRA6,LILRB3	NM_024318,p.F26Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	NM_024318	nonsynonymous SNV	exon3	c.T77A	p.F26Y	SLGPRTHVQAGPFPKPTLWAEPGSV	SLGPRTHVQAGPYPKPTLWAEPGSV	4.0	1.0	unscreened	-	1913_19:54746180-54746180 A>T_SLGPRTHVQAGPYPKPTLWAEPGSV
22:40054986-40054986 C>T	0.0	1913	MELANOMA	-	-	-	-	CACNA1I	uc003ayf.3,p.T612I|uc003ayd.3,p.T697I|ENST00000402142,p.T732I|NM_021096,p.T732I|uc003ayc.3,p.T732I|uc003aye.3,p.T647I|NM_001003406,p.T697I|ENST00000407673,p.T697I|ENST00000336649,p.T738I|ENST00000401624,p.T732I|ENST00000404898,p.T697I|ENST00000400164,p.T697I	protein_coding, processed_transcript	uc003ayf.3	nonsynonymous SNV	exon10	c.C1835T	p.T612I	VGQADGGLSVLRTFRLLRVLKLVRF	VGQADGGLSVLRIFRLLRVLKLVRF	1.0	5.0	unscreened	-	1913_22:40054986-40054986 C>T_VGQADGGLSVLRIFRLLRVLKLVRF
6:139094851-139094851 G>A	0.0	1913	MELANOMA	-	-	-	-	CCDC28A	NM_015439,p.E14K|uc003qie.3,p.E14K|ENST00000332797,p.E14K	protein_coding	uc003qie.3	nonsynonymous SNV	exon1	c.G40A	p.E14K	PRAEPRATLGEQEKAGLPLGAWRLY	PRAEPRATLGEQKKAGLPLGAWRLY	7.0	8.0	unscreened	-	1913_6:139094851-139094851 G>A_PRAEPRATLGEQKKAGLPLGAWRLY
5:140186804-140186804 C>T	0.0	1913	MELANOMA	-	-	-	-	PCDHA4	NM_031500,p.S11F|ENST00000356878,p.S11F|NM_018907,p.S11F|uc003lhh.1,p.S11F|ENST00000512229,p.S11F|uc003lhi.2,p.S11F|ENST00000530339,p.S11F|uc011daa.2,p.S11F	protein_coding	uc011daa.2	nonsynonymous SNV	exon1	c.C32T	p.S11F	MEFSWGSGQESRRLLLLLLLLAA	MEFSWGSGQEFRRLLLLLLLLAA	1.0	9.0	unscreened	-	1913_5:140186804-140186804 C>T_MEFSWGSGQEFRRLLLLLLLLAA
12:13906732-13906732 G>A	0.0	1913	MELANOMA	-	-	-	-	GRIN2B	uc001rbt.2,p.P177S|NM_000834,p.P177S|ENST00000279593,p.P177S	protein_coding	uc001rbt.2	nonsynonymous SNV	exon3	c.C529T	p.P177S	DWYIFSIVTTYFPGYQDFVNKIRST	DWYIFSIVTTYFSGYQDFVNKIRST	1.0	7.0	unscreened	-	1913_12:13906732-13906732 G>A_DWYIFSIVTTYFSGYQDFVNKIRST
11:73753177-73753177 C>T	1.0	1913	MELANOMA	-	-	-	-	C2CD3	ENST00000414160,p.G669E|uc001ouu.2,p.G1861E|ENST00000442398,p.G617E|NM_001286577,p.G1861E|ENST00000334126,p.G1861E|ENST00000313663,p.G1861E|NM_015531,p.G1861E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ouu.2	nonsynonymous SNV	exon29	c.G5582A	p.G1861E	NIRRFHESLHLQGEAPLPCDDKLTT	NIRRFHESLHLQEEAPLPCDDKLTT	7.0	9.0	unscreened	-	1913_11:73753177-73753177 C>T_NIRRFHESLHLQEEAPLPCDDKLTT
16:24902288-24902288 G>A	0.0	1913	MELANOMA	-	-	-	-	SLC5A11	ENST00000545376,p.E185K|ENST00000539472,p.E191K|uc010bxt.4,p.E191K|NM_052944,p.E255K|uc010vcd.3,p.E220K|ENST00000565769,p.E191K|ENST00000568579,p.E185K|ENST00000567758,p.E220K|ENST00000347898,p.E255K|ENST00000424767,p.E220K|uc002dms.4,p.E191K|NM_001258412,p.E185K|NM_001258413,p.E191K|NM_001258411,p.E220K|uc002dmu.4,p.E255K|uc010vce.3,p.E185K	retained_intron, protein_coding, nonsense_mediated_decay	uc010vce.3	nonsynonymous SNV	exon8	c.G553A	p.E185K	NRSENSSCGLPREDAFHIFRDPLTS	NRSENSSCGLPRKDAFHIFRDPLTS	2.0	8.0	unscreened	-	1913_16:24902288-24902288 G>A_NRSENSSCGLPRKDAFHIFRDPLTS
6:25819962-25819962 C>T	0.0	1913	MELANOMA	-	-	-	-	SLC17A1	ENST00000427328,p.G130E|ENST00000244527,p.G130E|ENST00000476801,p.G130E|NM_005074,p.G130E|ENST00000377886,p.G130E|uc010jqc.1,p.G128E|ENST00000468082,p.G130E|uc010jqb.1,p.G130E|uc003nfh.4,p.G130E	protein_coding, nonsense_mediated_decay	uc010jqc.1	nonsynonymous SNV	exon3	c.G383A	p.G128E	SSVLSLLIPPAAGIGVAWVVVCRAV	SSVLSLLIPPAAEIGVAWVVVCRAV	1.0	9.0	unscreened	-	1913_6:25819962-25819962 C>T_SSVLSLLIPPAAEIGVAWVVVCRAV
9:39103773-39103773 C>T	0.0	1913	MELANOMA	-	-	-	-	CNTNAP3	ENST00000377656,p.G834E|uc004abi.3,p.G835E|uc004abk.1,p.G835E|ENST00000297668,p.G835E|NM_033655,p.G835E|ENST00000358144,p.G747E|uc004abj.3,p.G834E	protein_coding, processed_transcript, nonsense_mediated_decay	uc004abk.1	nonsynonymous SNV	exon16	c.G2504A	p.G835E	TTVSSGVFMENLGITDFIRIELRAP	TTVSSGVFMENLEITDFIRIELRAP	3.0	7.0	unscreened	-	1913_9:39103773-39103773 C>T_TTVSSGVFMENLEITDFIRIELRAP
16:3254508-3254508 G>A	0.0	1913	MELANOMA	0.0005	-	-	-	OR1F1	NM_012360,p.E88K|uc010uwu.2,p.E88K|ENST00000304646,p.E88K	protein_coding	uc010uwu.2	nonsynonymous SNV	exon1	c.G262A	p.E88K	TTVPKMLANHILETQTISFCGCLTQ	TTVPKMLANHILKTQTISFCGCLTQ	2.0	8.0	unscreened	-	1913_16:3254508-3254508 G>A_TTVPKMLANHILKTQTISFCGCLTQ
12:55759103-55759103 C>T	0.0	1913	MELANOMA	-	-	-	-	OR6C75	uc010spk.2,p.S70L|ENST00000343399,p.S70L|NM_001005497,p.S70L	protein_coding	uc010spk.2	nonsynonymous SNV	exon1	c.C209T	p.S70L	YFFLRNFSFLEISFTSVCIPRFLVT	YFFLRNFSFLEILFTSVCIPRFLVT	1.0	9.0	unscreened	-	1913_12:55759103-55759103 C>T_YFFLRNFSFLEILFTSVCIPRFLVT
1:233397804-233397804 G>A	0.0	1913	MELANOMA	-	-	-	-	PCNXL2	ENST00000258229,p.S156F|NM_014801,p.S156F|uc001hvl.2,p.S156F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001hvl.2	nonsynonymous SNV	exon3	c.C467T	p.S156F	CSSRGQSITSHHSSGPLELSAQETV	CSSRGQSITSHHFSGPLELSAQETV	5.0	3.0	unscreened	-	1913_1:233397804-233397804 G>A_CSSRGQSITSHHFSGPLELSAQETV
20:18142743-18142743 C>T	1.0	1913	MELANOMA	-	-	-	-	CSRP2BP	uc021wbb.1,p.T321I|ENST00000278816,p.T321I|uc002wqk.3,p.T193I|ENST00000377681,p.T320I|NM_020536,p.T321I|ENST00000435364,p.T321I|ENST00000489634,p.T193I|uc010zru.2,p.T192I	protein_coding, processed_transcript	uc021wbb.1	nonsynonymous SNV	exon5	c.C962T	p.T321I	VIDFSSLSSSDRTPLTSPSPSPSLD	VIDFSSLSSSDRIPLTSPSPSPSLD	7.0	4.0	unscreened	-	1913_20:18142743-18142743 C>T_VIDFSSLSSSDRIPLTSPSPSPSLD
7:29152348-29152348 T>C	0.0	1913	MELANOMA	-	-	-	-	CPVL	ENST00000448959,p.N17S|ENST00000396276,p.N87S|NM_031311,p.N87S|ENST00000409850,p.N87S|NM_019029,p.N87S|ENST00000447426,p.N17S|ENST00000265394,p.N87S|uc003szx.3,p.N87S|uc003szv.3,p.N87S|uc003szw.3,p.N87S	protein_coding, processed_transcript	uc003szx.3	nonsynonymous SNV	exon7	c.A260G	p.N87S	AGFLTVNKTYNSNLFFWFFPAQIQP	AGFLTVNKTYNSSLFFWFFPAQIQP	4.0	5.0	unscreened	-	1913_7:29152348-29152348 T>C_AGFLTVNKTYNSSLFFWFFPAQIQP
11:88330446-88330446 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1177803,COSM1177804;OCCURENCE=1(endometrium)	-	GRM5	uc001pcq.3,p.G490E|NM_001143831,p.G490E|ENST00000305432,p.G490E|NM_000842,p.G490E|ENST00000305447,p.G490E|ENST00000455756,p.G490E|uc009yvm.3,p.G490E|ENST00000418177,p.G490E|ENST00000393297,p.G490E	protein_coding	uc009yvm.3	nonsynonymous SNV	exon6	c.G1469A	p.G490E	YFDYINVGSWDNGELKMDDDEVWSK	YFDYINVGSWDNEELKMDDDEVWSK	1.0	1.0	unscreened	-	1913_11:88330446-88330446 C>T_YFDYINVGSWDNEELKMDDDEVWSK
1:19183956-19183956 C>T	0.0	1913	MELANOMA	-	-	-	-	TAS1R2	uc001bba.1,p.E118K|ENST00000375371,p.E118K|NM_152232,p.E118K	protein_coding	uc001bba.1	nonsynonymous SNV	exon2	c.G352A	p.E118K	NNVQPVLYFLAHEDNLLPIQEDYSN	NNVQPVLYFLAHKDNLLPIQEDYSN	1.0	7.0	unscreened	-	1913_1:19183956-19183956 C>T_NNVQPVLYFLAHKDNLLPIQEDYSN
9:119488197-119488197 C>T	0.0	1913	MELANOMA	-	-	-	-	ASTN2	uc004bjt.2,p.E836K|uc022bmm.1,p.E536K|ENST00000313400,p.E887K|NM_014010,p.E836K|ENST00000373986,p.E610K|ENST00000361209,p.E836K|ENST00000373996,p.E883K|uc022bml.1,p.E532K	protein_coding	uc022bmm.1	nonsynonymous SNV	exon14	c.G1606A	p.E536K	AGFTNVLKILTKESSREELLSFIQH	AGFTNVLKILTKKSSREELLSFIQH	5.0	6.0	unscreened	-	1913_9:119488197-119488197 C>T_AGFTNVLKILTKKSSREELLSFIQH
7:37780855-37780855 G>A	0.0	1913	MELANOMA	-	-	-	-	GPR141	uc003tfm.1,p.G287E|NM_181791,p.G287E|ENST00000447769,p.G287E|ENST00000334425,p.G287E	protein_coding, processed_transcript	uc003tfm.1	nonsynonymous SNV	exon1	c.G860A	p.G287E	ISCYDLLLFVFGGSHWFKQKIIGLW	ISCYDLLLFVFGESHWFKQKIIGLW	1.0	4.0	unscreened	-	1913_7:37780855-37780855 G>A_ISCYDLLLFVFGESHWFKQKIIGLW
1:158324174-158324174 G>C	0.0	1913	MELANOMA	-	-	-	-	CD1E	NM_001185115,p.Q22H|uc001fsf.3,p.Q22H|uc001fsk.3,p.Q22H|NM_001042585,p.Q22H|NM_001042584,p.Q22H|ENST00000368161,p.Q22H|ENST00000368155,p.Q22H|NM_001042583,p.Q22H|NM_001185107,p.Q22H|ENST00000368160,p.Q22H|NM_001185108,p.Q22H|ENST00000368163,p.Q22H|uc001fse.3,p.Q22H|uc001fsd.3,p.Q22H|uc001fry.3,p.Q22H|uc001frz.3,p.Q22H|ENST00000368165,p.Q22H|uc001fsj.3,p.Q22H|ENST00000368156,p.Q22H|NM_030893,p.Q22H|ENST00000368167,p.Q22H	protein_coding, processed_transcript	uc001fsk.3	nonsynonymous SNV	exon2	c.G66C	p.Q22H	GLCCPGENTAAPQALQSYHLAAEEQ	GLCCPGENTAAPHALQSYHLAAEEQ	1.0	2.0	unscreened	-	1913_1:158324174-158324174 G>C_GLCCPGENTAAPHALQSYHLAAEEQ
18:6889980-6889980 T>A	0.0	1913	MELANOMA	-	-	-	-	ARHGAP28	ENST00000262227,p.F492I|uc002knc.3,p.F492I|uc002knf.3,p.F376I|ENST00000383472,p.F544I|uc010wzi.2,p.F367I|ENST00000532996,p.F367I|ENST00000579689,p.F181I|ENST00000531294,p.F380I|ENST00000419673,p.F385I|ENST00000418986,p.F385I|uc002kne.3,p.F385I|ENST00000400091,p.F544I|ENST00000314319,p.F385I|NM_001010000,p.F385I	retained_intron, protein_coding, nonsense_mediated_decay	uc010wzi.2	nonsynonymous SNV	exon12	c.T1099A	p.F367I	LWNISTVMAPNLFFSRSKHSDYEEL	LWNISTVMAPNLIFSRSKHSDYEEL	1.0	8.0	unscreened	-	1913_18:6889980-6889980 T>A_LWNISTVMAPNLIFSRSKHSDYEEL
11:57982883-57982883 C>T	0.0	1913	MELANOMA	-	-	-	-	OR1S1	uc010rkc.2,p.P223S|NM_001004458,p.P223S|ENST00000309433,p.P223S	protein_coding	uc010rkc.2	nonsynonymous SNV	exon1	c.C667T	p.P223S	VLFIVGLSVIIFPFTLSFFSYVCII	VLFIVGLSVIIFSFTLSFFSYVCII	1.0	6.0	unscreened	-	1913_11:57982883-57982883 C>T_VLFIVGLSVIIFSFTLSFFSYVCII
11:49053377-49053377 C>T	0.0	1913	MELANOMA	-	-	-	-	TRIM49B	ENST00000332682,p.L76F|uc021qix.1,p.L76F|NM_001206626,p.L76F	protein_coding	uc021qix.1	nonsynonymous SNV	exon1	c.C226T	p.L76F	LKTNIHFKKMASLARKVSLWLFLSS	LKTNIHFKKMASFARKVSLWLFLSS	1.0	1.0	unscreened	-	1913_11:49053377-49053377 C>T_LKTNIHFKKMASFARKVSLWLFLSS
14:23816896-23816896 C>T	1.0	1913	MELANOMA	-	-	-	-	SLC22A17	ENST00000206544,p.G330E|ENST00000397267,p.G330E|NM_020372,p.G330E|NM_016609,p.G330E|ENST00000397260,p.G219E|uc010akk.3,p.G112E|NM_001289050,p.G112E|ENST00000354772,p.G330E|uc001wjm.3,p.G330E|uc001wjl.3,p.G330E	retained_intron, protein_coding, processed_transcript	uc010akk.3	nonsynonymous SNV	exon7	c.G335A	p.G112E	AHAIRHCYQPVGGGGSPSDFYLCSL	AHAIRHCYQPVGEGGSPSDFYLCSL	9.0	8.0	unscreened	-	1913_14:23816896-23816896 C>T_AHAIRHCYQPVGEGGSPSDFYLCSL
11:92624013-92624013 G>A	0.0	1913	MELANOMA	-	-	-	2	FAT3	uc001pdi.4,p.E942K|ENST00000525166,p.E4352K|ENST00000298047,p.E4502K|NM_001008781,p.E4470K|ENST00000409404,p.E4470K|uc001pdj.4,p.E4470K|ENST00000533797,p.E805K	retained_intron, protein_coding, processed_transcript	uc001pdj.4	nonsynonymous SNV	exon25	c.G13408A	p.E4470K	PSQYLPPHPFPNETDLVGPPASCEF	PSQYLPPHPFPNKTDLVGPPASCEF	1.0	2.0	unscreened	-	1913_11:92624013-92624013 G>A_PSQYLPPHPFPNKTDLVGPPASCEF
8:128429058-128429058 G>A	0.0	1913	MELANOMA	-	-	-	-	POU5F1B	NM_001159542,p.G316E|uc003ysf.3,p.G316E|ENST00000465342,p.G316E|ENST00000391675,p.G316E	protein_coding	uc003ysf.3	nonsynonymous SNV	exon1	c.G947A	p.G316E	FSGGPVSFPPAPGPHFGTPGYGSPH	FSGGPVSFPPAPEPHFGTPGYGSPH	1.0	3.0	unscreened	-	1913_8:128429058-128429058 G>A_FSGGPVSFPPAPEPHFGTPGYGSPH
17:56389999-56389999 G>A	0.0	1913	MELANOMA	-	-	-	-	BZRAP1	ENST00000268893,p.P668L|uc010dcs.4,p.P668L|ENST00000355701,p.P728L|uc002ivx.5,p.P728L|NM_001261835,p.P728L|NM_024418,p.P668L|uc010wnt.3,p.P728L|ENST00000343736,p.P728L|NM_004758,p.P728L	retained_intron, protein_coding	uc010wnt.3	nonsynonymous SNV	exon17	c.C2183T	p.P728L	ERVSDDDLLTSLPPELADLSHSSGP	ERVSDDDLLTSLLPELADLSHSSGP	2.0	4.0	unscreened	-	1913_17:56389999-56389999 G>A_ERVSDDDLLTSLLPELADLSHSSGP
16:16259697-16259697 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1708788;OCCURENCE=1(skin)	-	ABCC6	NM_001171,p.R1030Q|uc002den.4,p.R1030Q|ENST00000205557,p.R1030Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002den.4	nonsynonymous SNV	exon23	c.G3089A	p.R1030Q	RLLFQRLLWDVVRSPISFFERTPIG	RLLFQRLLWDVVQSPISFFERTPIG	1.0	8.0	unscreened	-	1913_16:16259697-16259697 C>T_RLLFQRLLWDVVQSPISFFERTPIG
4:100532325-100532325 G>A	0.0	1913	MELANOMA	-	-	-	-	MTTP	NM_001300785,p.E626K|uc011cej.2,p.E626K|ENST00000457717,p.E599K|ENST00000265517,p.E599K|NM_000253,p.E599K|uc003hvc.4,p.E599K|ENST00000511045,p.E626K	protein_coding, nonsense_mediated_decay	uc011cej.2	nonsynonymous SNV	exon13	c.G1876A	p.E626K	MPASKIVRRVLKEMVAHNYDRFSRS	MPASKIVRRVLKKMVAHNYDRFSRS	1.0	9.0	unscreened	-	1913_4:100532325-100532325 G>A_MPASKIVRRVLKKMVAHNYDRFSRS
15:89400227-89400227 C>T	0.0	1913	MELANOMA	-	-	-	-	ACAN	ENST00000352105,p.P1471S|ENST00000561243,p.P1471S|uc010upo.1,p.P1471S|uc010upp.1,p.P1471S|NM_001135,p.P1471S|NM_013227,p.P1471S|ENST00000559004,p.P1471S|ENST00000439576,p.P1471S	retained_intron, protein_coding	uc010upp.1	nonsynonymous SNV	exon12	c.C4411T	p.P1471S	TSTSAVGDLSGLPSGGEVLEISVSG	TSTSAVGDLSGLSSGGEVLEISVSG	8.0	2.0	unscreened	-	1913_15:89400227-89400227 C>T_TSTSAVGDLSGLSSGGEVLEISVSG
3:96706388-96706388 T>A	0.0	1913	MELANOMA	-	-	-	-	EPHA6	ENST00000389672,p.F222Y|uc003drp.1,p.F222Y|uc010how.1,p.F222Y|NM_001080448,p.F222Y|uc031sar.1,p.F222Y|NM_001278301,p.F222Y|ENST00000470610,p.F222Y|ENST00000542517,p.F128Y	protein_coding, nonsense_mediated_decay	uc031sar.1	nonsynonymous SNV	exon3	c.T665A	p.F222Y	WVLGTCKETFNLFYMESDESHGIKF	WVLGTCKETFNLYYMESDESHGIKF	1.0	3.0	unscreened	-	1913_3:96706388-96706388 T>A_WVLGTCKETFNLYYMESDESHGIKF
3:66433745-66433745 C>T	1.0	1913	MELANOMA	-	-	ID=COSM1742246,COSM1742247;OCCURENCE=1(urinary_tract)	-	LRIG1	ENST00000273261,p.G718R|NM_015541,p.G718R|uc010hnz.3,p.G434R|uc003dmw.3,p.G384R|uc011bfu.2,p.G338R|ENST00000383703,p.G695R|uc003dmx.3,p.G718R|uc010hoa.3,p.G695R	retained_intron, protein_coding, processed_transcript	uc011bfu.2	nonsynonymous SNV	exon7	c.G1012A	p.G338R	VGETVALQCKATGNPPPRITWFKGD	VGETVALQCKATRNPPPRITWFKGD	6.0	2.0	unscreened	-	1913_3:66433745-66433745 C>T_VGETVALQCKATRNPPPRITWFKGD
16:57965645-57965645 G>A	0.0	1913	MELANOMA	-	-	-	-	CNGB1	NM_001286130,p.P498S|ENST00000564448,p.P498S|uc002emt.2,p.P504S|uc010cdh.2,p.P498S|ENST00000251102,p.P504S|NM_001297,p.P504S	retained_intron, protein_coding, processed_transcript	uc010cdh.2	nonsynonymous SNV	exon17	c.C1492T	p.P498S	PPSPAKSDTLIVPSSASGTHRKKLP	PPSPAKSDTLIVSSSASGTHRKKLP	1.0	7.0	unscreened	-	1913_16:57965645-57965645 G>A_PPSPAKSDTLIVSSSASGTHRKKLP
15:50601929-50601929 G>A	1.0	1913	MELANOMA	-	-	-	-	GABPB1	ENST00000560825,p.R23C|ENST00000220429,p.R23C|uc001zye.3,p.R23C|NM_005254,p.R23C|NM_181427,p.R23C|NM_016654,p.R23C|uc001zya.3,p.R23C|NM_002041,p.R23C|ENST00000429662,p.R23C|ENST00000396464,p.R23C|ENST00000359031,p.R23C|ENST00000380877,p.R23C|uc001zyb.3,p.R23C|ENST00000558970,p.R23C|uc001zyf.3,p.R23C|ENST00000558335,p.R23C|NM_016655,p.R23C|uc001zyc.3,p.R23C|uc001zyd.3,p.R23C	retained_intron, protein_coding, TEC	uc001zyf.3	nonsynonymous SNV	exon3	c.C67T	p.R23C	LEAARAGQDDEVRILMANGAPFTTD	LEAARAGQDDEVCILMANGAPFTTD	8.0	9.0	unscreened	-	1913_15:50601929-50601929 G>A_LEAARAGQDDEVCILMANGAPFTTD
7:144060811-144060811 G>A	0.0	1913	MELANOMA	-	-	-	-	ARHGEF5	ENST00000056217,p.G350E|uc003wek.3,p.G350E|NM_005435,p.G350E|uc003wel.3,p.G350E	protein_coding	uc003wel.3	nonsynonymous SNV	exon2	c.G1049A	p.G350E	ADSQDEKSQTFLGKSEEVTGKQEDH	ADSQDEKSQTFLEKSEEVTGKQEDH	1.0	9.0	unscreened	-	1913_7:144060811-144060811 G>A_ADSQDEKSQTFLEKSEEVTGKQEDH
11:5862851-5862851 C>T	0.0	1913	MELANOMA	-	-	-	-	OR52E6	uc010qzq.2,p.E93K|ENST00000329322,p.E93K|NM_001005167,p.E93K|ENST00000379946,p.E97K	protein_coding	uc010qzq.2	nonsynonymous SNV	exon1	c.G277A	p.E93K	PKMLGIFWFNIKEISFGGYLSQMFF	PKMLGIFWFNIKKISFGGYLSQMFF	1.0	8.0	unscreened	-	1913_11:5862851-5862851 C>T_PKMLGIFWFNIKKISFGGYLSQMFF
1:75086573-75086573 G>A	0.0	1913	MELANOMA	-	-	-	-	ERICH3	NM_001002912,p.S282F|uc001dgi.4,p.S76F|ENST00000420661,p.S85F|ENST00000326665,p.S282F|uc001dgg.3,p.S282F	protein_coding, processed_transcript	uc001dgi.4	nonsynonymous SNV	exon3	c.C227T	p.S76F	LLTKDSRRIHKTSLHSNAAITMIYL	LLTKDSRRIHKTFLHSNAAITMIYL	1.0	9.0	unscreened	-	1913_1:75086573-75086573 G>A_LLTKDSRRIHKTFLHSNAAITMIYL
2:206166412-206166412 G>A	1.0	1913	MELANOMA	-	-	-	-	PARD3B	ENST00000462231,p.G873S|uc010fub.2,p.G873S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010fub.2	nonsynonymous SNV	exon18	c.G2617A	p.G873S	EDPERKIKKKGFGAMLRYGPALKAK	EDPERKIKKKGFSAMLRYGPALKAK	4.0	6.0	unscreened	-	1913_2:206166412-206166412 G>A_EDPERKIKKKGFSAMLRYGPALKAK
18:56202572-56202572 C>T	0.0	1913	MELANOMA	-	-	-	-	ALPK2	ENST00000361673,p.G1616E|uc002lhj.4,p.G1616E|uc002lhk.1,p.G947E|NM_052947,p.G1616E	retained_intron, protein_coding, processed_transcript	uc002lhk.1	nonsynonymous SNV	exon1	c.G2840A	p.G947E	DLTRFPCTSSPEGNVTDFLISHKME	DLTRFPCTSSPEENVTDFLISHKME	1.0	9.0	unscreened	-	1913_18:56202572-56202572 C>T_DLTRFPCTSSPEENVTDFLISHKME
19:50464099-50464099 G>A	0.0	1913	MELANOMA	-	-	-	-	SIGLEC11	uc010ybi.2,p.S57F|NM_001135163,p.S57F|ENST00000447370,p.S57F|NM_052884,p.S57F|uc010ybh.2,p.S57F|ENST00000426971,p.S57F	protein_coding, nonsense_mediated_decay	uc010ybi.2	nonsynonymous SNV	exon2	c.C170T	p.S57F	PEGLCVIVSCNLSYPRDGWDESTAA	PEGLCVIVSCNLFYPRDGWDESTAA	1.0	1.0	unscreened	-	1913_19:50464099-50464099 G>A_PEGLCVIVSCNLFYPRDGWDESTAA
1:228431139-228431139 C>T	0.0	1913	MELANOMA	-	-	-	-	OBSCN	NM_001271223,p.S1154F|uc009xez.2,p.S1062F|NM_052843,p.S1062F|ENST00000422127,p.S1062F|uc001hsn.4,p.S1062F|NM_001098623,p.S1062F|uc001hsq.2,p.S1154F|ENST00000284548,p.S1062F|ENST00000570156,p.S1154F	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon10	c.C3185T	p.S1062F	GDYSCEARGQRVSFRLHITEPKMMF	GDYSCEARGQRVFFRLHITEPKMMF	4.0	2.0	unscreened	-	1913_1:228431139-228431139 C>T_GDYSCEARGQRVFFRLHITEPKMMF
6:132892182-132892182 C>T	0.0	1913	MELANOMA	-	-	-	-	TAAR6	NM_175067,p.S241F|ENST00000275198,p.S241F|uc011eck.2,p.S241F	protein_coding	uc011eck.2	nonsynonymous SNV	exon1	c.C722T	p.S241F	KKIENTGSKTESSSESYKARVARRE	KKIENTGSKTESFSESYKARVARRE	1.0	1.0	unscreened	-	1913_6:132892182-132892182 C>T_KKIENTGSKTESFSESYKARVARRE
19:54297337-54297337 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1396137;OCCURENCE=1(large_intestine)	-	NLRP12	ENST00000391775,p.R994Q|ENST00000345770,p.R996Q|uc002qcj.5,p.R1052Q|uc002qch.5,p.R1051Q|ENST00000351894,p.R939Q|ENST00000391773,p.R1052Q|NM_001277126,p.R1052Q|ENST00000535162,p.R994Q|ENST00000354278,p.R882Q|uc010eqw.4,p.R277Q|ENST00000324134,p.R1051Q|NM_144687,p.R1051Q|uc002qci.5,p.R994Q|ENST00000391772,p.R882Q|NM_001277129,p.R994Q	retained_intron, protein_coding	uc010eqw.4	nonsynonymous SNV	exon7	c.G830A	p.R277Q	LNKMTHSRLAALRVTKPYLDIGC	LNKMTHSRLAALQVTKPYLDIGC	1.0	3.0	unscreened	-	1913_19:54297337-54297337 C>T_LNKMTHSRLAALQVTKPYLDIGC
3:128126977-128126977 C>T	1.0	1913	MELANOMA	-	-	-	-	EEFSEC	uc003eki.3,p.R556C|NM_021937,p.R556C|ENST00000254730,p.R556C	protein_coding, processed_transcript	uc003eki.3	nonsynonymous SNV	exon7	c.C1666T	p.R556C	LTPALKKRARAGRGEATRQEESAER	LTPALKKRARAGCGEATRQEESAER	7.0	1.0	unscreened	-	1913_3:128126977-128126977 C>T_LTPALKKRARAGCGEATRQEESAER
17:62045419-62045419 C>T	0.0	1913	MELANOMA	-	-	-	-	SCN4A	NM_000334,p.D334N|ENST00000578147,p.D334N|uc002jds.1,p.D334N|ENST00000435607,p.D334N	retained_intron, protein_coding	uc002jds.1	nonsynonymous SNV	exon6	c.G1000A	p.D334N	DTWNSHASWATNDTFDWDAYISDEG	DTWNSHASWATNNTFDWDAYISDEG	1.0	4.0	unscreened	-	1913_17:62045419-62045419 C>T_DTWNSHASWATNNTFDWDAYISDEG
20:62707989-62707989 G>A	1.0	1913	MELANOMA	-	-	-	-	RGS19	NM_001039467,p.P14L|uc002yib.3,p.P14L|ENST00000395042,p.P14L|NM_005873,p.P14L|uc002yhy.3,p.P14L|ENST00000332298,p.P14L	protein_coding, processed_transcript	uc002yib.3	nonsynonymous SNV	exon3	c.C41T	p.P14L	PTPHEAEKQITGPEEADRPPSMSSH	PTPHEAEKQITGLEEADRPPSMSSH	8.0	6.0	unscreened	-	1913_20:62707989-62707989 G>A_PTPHEAEKQITGLEEADRPPSMSSH
1:216017659-216017659 G>A	0.0	1913	MELANOMA	-	-	-	-	USH2A	ENST00000366943,p.P3079S|NM_206933,p.P3079S|uc001hku.1,p.P3079S|ENST00000307340,p.P3079S	retained_intron, protein_coding	uc001hku.1	nonsynonymous SNV	exon46	c.C9235T	p.P3079S	NVPGSFILRDLSPFTIYDIQVEVCT	NVPGSFILRDLSSFTIYDIQVEVCT	1.0	2.0	unscreened	-	1913_1:216017659-216017659 G>A_NVPGSFILRDLSSFTIYDIQVEVCT
5:79030871-79030871 C>T	0.0	1913	MELANOMA	-	-	-	-	CMYA5	NM_153610,p.P2095S|ENST00000446378,p.P2095S|uc003kgc.3,p.P2095S	retained_intron, protein_coding, processed_transcript	uc003kgc.3	nonsynonymous SNV	exon2	c.C6283T	p.P2095S	LGNEKEAHRSTPPFPEEKPLEESKM	LGNEKEAHRSTPSFPEEKPLEESKM	4.0	9.0	unscreened	-	1913_5:79030871-79030871 C>T_LGNEKEAHRSTPSFPEEKPLEESKM
14:32295903-32295903 C>T	1.0	1913	MELANOMA	-	-	-	-	NUBPL	ENST00000281081,p.R226C|NM_001201573,p.R130C|NM_025152,p.R226C|NM_001201574,p.R43C|uc010tpl.2,p.R130C|ENST00000536705,p.R130C|uc001wrk.4,p.R226C|uc021rsb.1,p.R43C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021rsb.1	nonsynonymous SNV	exon3	c.C127T	p.R43C	ALMDAHKGAEMFRRVHVPVLGLVQN	ALMDAHKGAEMFCRVHVPVLGLVQN	7.0	3.0	unscreened	-	1913_14:32295903-32295903 C>T_ALMDAHKGAEMFCRVHVPVLGLVQN
6:29012521-29012521 C>T	0.0	1913	MELANOMA	-	-	-	-	OR2W1	NM_030903,p.M144I|uc003nlw.2,p.M144I|ENST00000377175,p.M144I	protein_coding	uc003nlw.2	nonsynonymous SNV	exon1	c.G432A	p.M144I	YFVVMNPHLCLKMIIMIWSISLANS	YFVVMNPHLCLKIIIMIWSISLANS	1.0	9.0	unscreened	-	1913_6:29012521-29012521 C>T_YFVVMNPHLCLKIIIMIWSISLANS
1:118640341-118640341 C>T	0.0	1913	MELANOMA	-	-	-	-	SPAG17	ENST00000336338,p.M321I|uc001ehk.2,p.M321I|NM_206996,p.M321I	protein_coding, processed_transcript	uc001ehk.2	nonsynonymous SNV	exon7	c.G963A	p.M321I	ETNLFDVARLEYMVKAADFPSDWSD	ETNLFDVARLEYIVKAADFPSDWSD	1.0	9.0	unscreened	-	1913_1:118640341-118640341 C>T_ETNLFDVARLEYIVKAADFPSDWSD
1:68904755-68904755 G>A	0.0	1913	MELANOMA	-	-	-	-	RPE65	NM_000329,p.H290Y|ENST00000262340,p.H290Y|uc001dei.1,p.H290Y	protein_coding	uc001dei.1	nonsynonymous SNV	exon9	c.C868T	p.H290Y	CFESNETMGVWLHIADKKRKKYLNN	CFESNETMGVWLYIADKKRKKYLNN	2.0	9.0	unscreened	-	1913_1:68904755-68904755 G>A_CFESNETMGVWLYIADKKRKKYLNN
12:124409628-124409628 C>T	0.0	1913	MELANOMA	-	-	-	-	DNAH10	NM_207437,p.P3815L|ENST00000409039,p.P3815L|uc001uft.4,p.P3815L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uft.4	nonsynonymous SNV	exon67	c.C11444T	p.P3815L	QEWYDLDSLEQFPVPLGYDNNITPF	QEWYDLDSLEQFLVPLGYDNNITPF	4.0	9.0	unscreened	-	1913_12:124409628-124409628 C>T_QEWYDLDSLEQFLVPLGYDNNITPF
11:55944427-55944427 G>A	0.0	1913	MELANOMA	-	-	-	-	OR5J2	uc010rjb.2,p.G112S|NM_001005492,p.G112S|ENST00000312298,p.G112S	protein_coding	uc010rjb.2	nonsynonymous SNV	exon1	c.G334A	p.G112S	QHLCFGVFITTEGFLLSVMAYDRYV	QHLCFGVFITTESFLLSVMAYDRYV	1.0	2.0	unscreened	-	1913_11:55944427-55944427 G>A_QHLCFGVFITTESFLLSVMAYDRYV
11:121474927-121474927 G>A	0.0	1913	MELANOMA	-	-	-	-	SORL1	uc010rzp.1,p.M361I|ENST00000525532,p.M459I|ENST00000260197,p.M1515I|uc001pxx.3,p.M1515I|ENST00000532694,p.M361I|ENST00000527934,p.M130I|NM_003105,p.M1515I|ENST00000534286,p.M425I|uc010rzq.1,p.M130I	retained_intron, protein_coding, processed_transcript	uc010rzq.1	nonsynonymous SNV	exon4	c.G390A	p.M130I	EANCPTHSTLTCMSREFQCEDGEAC	EANCPTHSTLTCISREFQCEDGEAC	3.0	9.0	unscreened	-	1913_11:121474927-121474927 G>A_EANCPTHSTLTCISREFQCEDGEAC
3:186395322-186395322 G>A	0.0	1913	MELANOMA	-	-	-	-	HRG	ENST00000232003,p.D410N|NM_000412,p.D410N|uc003fqq.3,p.D410N	retained_intron, protein_coding, processed_transcript	uc003fqq.3	nonsynonymous SNV	exon7	c.G1228A	p.D410N	GHHPHGHHPHCHDFQDYGPCDPPPH	GHHPHGHHPHCHNFQDYGPCDPPPH	1.0	3.0	unscreened	-	1913_3:186395322-186395322 G>A_GHHPHGHHPHCHNFQDYGPCDPPPH
14:103601678-103601678 C>T	0.0	1913	MELANOMA	-	-	-	-	TNFAIP2	uc001ymm.1,p.S649F|NM_006291,p.S649F|ENST00000560670,p.S342F|uc010awo.1,p.S309F|ENST00000333007,p.S649F|ENST00000560869,p.S649F|ENST00000451723,p.S318F|uc010txz.1,p.S318F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010txz.1	nonsynonymous SNV	exon9	c.C953T	p.S318F	SMGAQEPSRPLFSLIKVG	SMGAQEPSRPLFFLIKVG	4.0	2.0	unscreened	-	1913_14:103601678-103601678 C>T_SMGAQEPSRPLFFLIKVG
8:68950487-68950487 C>T	0.0	1913	MELANOMA	-	-	ID=COSM108981;OCCURENCE=1(skin)	1	PREX2	NM_024870,p.L267F|ENST00000288368,p.L267F|uc003xxv.1,p.L267F|uc011lez.1,p.L202F|uc003xxu.1,p.L267F|NM_025170,p.L267F	protein_coding, processed_transcript	uc011lez.1	nonsynonymous SNV	exon5	c.C604T	p.L202F	ISSGNIQERVFFLFDNLLVYCKRKH	ISSGNIQERVFFFFDNLLVYCKRKH	1.0	3.0	unscreened	-	1913_8:68950487-68950487 C>T_ISSGNIQERVFFFFDNLLVYCKRKH
13:20024273-20024273 C>T	0.0	1913	MELANOMA	-	-	-	-	TPTE2	ENST00000255310,p.E229K|ENST00000462409,p.E175K|ENST00000382978,p.E266K|uc009zzl.3,p.E195K|NM_199254,p.E306K|uc001umd.3,p.E306K|NM_130785,p.E229K|ENST00000400103,p.E195K|ENST00000400230,p.E306K|ENST00000457266,p.E195K|ENST00000382975,p.E266K|NM_001141968,p.E195K|uc001ume.3,p.E229K|ENST00000390680,p.E229K|ENST00000382977,p.E306K	protein_coding, nonsense_mediated_decay	uc009zzl.3	nonsynonymous SNV	exon12	c.G583A	p.E195K	LHEMVVFTKEVNEWMAQDLENIVAI	LHEMVVFTKEVNKWMAQDLENIVAI	1.0	9.0	unscreened	-	1913_13:20024273-20024273 C>T_LHEMVVFTKEVNKWMAQDLENIVAI
21:15535809-15535809 C>T	0.0	1913	MELANOMA	-	-	-	-	LIPI	uc021whi.1,p.E148K|uc021whh.1,p.E313K|uc002yjm.3,p.E334K|ENST00000344577,p.E334K|NM_198996,p.E334K|uc010gkw.2,p.E283K|ENST00000536861,p.E313K|uc021whf.1,p.E313K|uc021whe.1,p.E278K|uc021whj.1,p.E313K	protein_coding	uc021whj.1	nonsynonymous SNV	exon7	c.G937A	p.E313K	GYQAKLFKGVLKERMEGRPLRTTVF	GYQAKLFKGVLKKRMEGRPLRTTVF	1.0	3.0	unscreened	-	1913_21:15535809-15535809 C>T_GYQAKLFKGVLKKRMEGRPLRTTVF
X:34148171-34148171 A>T	0.0	1913	MELANOMA	-	-	-	-	FAM47A	uc004ddg.3,p.F742Y|NM_203408,p.F742Y|ENST00000346193,p.F742Y	protein_coding	uc004ddg.3	nonsynonymous SNV	exon1	c.T2225A	p.F742Y	LDDLYGPIAFKDFILSKGYEMPGII	LDDLYGPIAFKDYILSKGYEMPGII	1.0	9.0	unscreened	-	1913_X:34148171-34148171 A>T_LDDLYGPIAFKDYILSKGYEMPGII
10:102046382-102046382 C>T	1.0	1913	MELANOMA	-	-	-	-	BLOC1S2	NM_001282439,p.R12Q|NM_173809,p.R12Q|ENST00000370372,p.R12Q|uc001kqw.2,p.R12Q	protein_coding, processed_transcript	uc001kqw.2	nonsynonymous SNV	exon1	c.G35A	p.R12Q	MAAAAEGVLATRSDEPARDDAAVE	MAAAAEGVLATQSDEPARDDAAVE	8.0	3.0	unscreened	-	1913_10:102046382-102046382 C>T_MAAAAEGVLATQSDEPARDDAAVE
10:24762473-24762473 G>A	0.0	1913	MELANOMA	-	-	-	-	KIAA1217	uc010qcy.2,p.R388K|uc001irx.3,p.R106K|uc001irz.3,p.R106K|NM_019590,p.R388K|ENST00000396446,p.R106K|uc001irv.1,p.R238K|NM_001098500,p.R308K|ENST00000376451,p.R106K|ENST00000376456,p.R388K|ENST00000396445,p.R106K|NM_001282769,p.R106K|ENST00000430453,p.R309K|ENST00000438429,p.R238K|NM_001282770,p.R106K|NM_001282767,p.R388K|ENST00000376452,p.R388K|ENST00000458595,p.R388K|ENST00000376454,p.R388K|ENST00000376462,p.R308K|uc010qcz.2,p.R388K|uc001iry.3,p.R106K|uc001irw.3,p.R106K|ENST00000307544,p.R106K|uc001irs.3,p.R308K|uc001iru.4,p.R388K|uc001irt.4,p.R388K|NM_001282768,p.R388K	retained_intron, protein_coding, processed_transcript	uc010qcz.2	nonsynonymous SNV	exon6	c.G1163A	p.R388K	DEDMSGKNIAMYRNEGFYADPYLYH	DEDMSGKNIAMYKNEGFYADPYLYH	1.0	6.0	unscreened	-	1913_10:24762473-24762473 G>A_DEDMSGKNIAMYKNEGFYADPYLYH
11:5274542-5274542 C>T	0.0	1913	MELANOMA	-	-	-	-	HBG2	ENST00000380259,p.G137R|NM_000184,p.G137R|ENST00000380252,p.G127R|ENST00000336906,p.G137R|uc001maj.1,p.G137R	protein_coding, processed_transcript, nonsense_mediated_decay	uc001maj.1	nonsynonymous SNV	exon3	c.G409A	p.G137R	PEVQASWQKMVTGVASALSSRYH	PEVQASWQKMVTRVASALSSRYH	4.0	9.0	unscreened	-	1913_11:5274542-5274542 C>T_PEVQASWQKMVTRVASALSSRYH
10:61833636-61833636 C>T	0.0	1913	MELANOMA	-	-	-	-	ANK3	NM_020987,p.E2335K|ENST00000280772,p.E2335K|uc001jky.3,p.E2335K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jky.3	nonsynonymous SNV	exon37	c.G7003A	p.E2335K	KPKLERIIEVHIEKGNQAEPTEVII	KPKLERIIEVHIKKGNQAEPTEVII	3.0	5.0	unscreened	-	1913_10:61833636-61833636 C>T_KPKLERIIEVHIKKGNQAEPTEVII
17:72540986-72540986 T>A	0.0	1913	MELANOMA	-	-	-	-	CD300C	uc002jky.2,p.K54N|ENST00000330793,p.K54N|NM_006678,p.K54N	protein_coding	uc002jky.2	nonsynonymous SNV	exon2	c.A162T	p.K54N	QCRYEKEHRTLNKFWCRPPQILRCD	QCRYEKEHRTLNNFWCRPPQILRCD	2.0	5.0	unscreened	-	1913_17:72540986-72540986 T>A_QCRYEKEHRTLNNFWCRPPQILRCD
11:50003947-50003947 C>T	0.0	1913	MELANOMA	-	-	-	-	OR4C12	uc010ria.2,p.V31I|NM_001005270,p.V31I|ENST00000335238,p.V31I	protein_coding	uc010ria.2	nonsynonymous SNV	exon1	c.G91A	p.V31I	PIMEKVTFVVFLVLYMITLSGNLLI	PIMEKVTFVVFLILYMITLSGNLLI	1.0	2.0	unscreened	-	1913_11:50003947-50003947 C>T_PIMEKVTFVVFLILYMITLSGNLLI
3:160000286-160000286 T>C	1.0	1913	MELANOMA	-	-	-	-	IFT80	uc003fdb.2,p.E362G|NM_020800,p.E499G|NM_001190241,p.E362G|ENST00000326448,p.E499G|ENST00000483754,p.E670G|uc003fdd.2,p.E182G|NM_001190242,p.E362G|ENST00000496589,p.E362G|ENST00000483465,p.E362G|uc021xgr.1,p.E499G|uc003fde.2,p.E362G	 protein_coding, processed_transcript, nonsense_mediated_decay,retained_intron	uc021xgr.1	nonsynonymous SNV	exon13	c.A1496G	p.E499G	DLCITSVKRFGKEEQIIKLGTMVHT	DLCITSVKRFGKGEQIIKLGTMVHT	8.0	3.0	unscreened	-	1913_3:160000286-160000286 T>C_DLCITSVKRFGKGEQIIKLGTMVHT
14:86088557-86088557 G>C	0.0	1913	MELANOMA	-	-	-	-	FLRT2	ENST00000554746,p.K233N|NM_013231,p.K233N|uc021rxf.1,p.K233N|uc010atd.3,p.K233N|ENST00000330753,p.K233N|uc001xvr.3,p.K233N	retained_intron, protein_coding, processed_transcript	uc021rxf.1	nonsynonymous SNV	exon1	c.G699C	p.K233N	IAEGTFSHLTKLKEFSIVRNSLSHP	IAEGTFSHLTKLNEFSIVRNSLSHP	1.0	6.0	unscreened	-	1913_14:86088557-86088557 G>C_IAEGTFSHLTKLNEFSIVRNSLSHP
3:126260918-126260918 G>A	0.0	1913	MELANOMA	-	-	-	-	CHST13	uc003eja.3,p.E175K|ENST00000319340,p.E175K|NM_152889,p.E175K	protein_coding	uc003eja.3	nonsynonymous SNV	exon3	c.G523A	p.E175K	RLRAYLAFLFVREPFERLASAYRNK	RLRAYLAFLFVRKPFERLASAYRNK	1.0	7.0	unscreened	-	1913_3:126260918-126260918 G>A_RLRAYLAFLFVRKPFERLASAYRNK
3:16450899-16450899 G>A	0.0	1913	MELANOMA	-	-	-	-	RFTN1	ENST00000432519,p.P106S|ENST00000451036,p.P142S|uc003cay.3,p.P142S|ENST00000334133,p.P142S|uc010hes.3,p.P106S|NM_015150,p.P142S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010hes.3	nonsynonymous SNV	exon3	c.C316T	p.P106S	SSLDHPTDQKLIPEFIKKIQEAASQ	SSLDHPTDQKLISEFIKKIQEAASQ	1.0	8.0	unscreened	-	1913_3:16450899-16450899 G>A_SSLDHPTDQKLISEFIKKIQEAASQ
4:8621094-8621094 G>A	0.0	1913	MELANOMA	-	-	-	-	CPZ	uc003gln.3,p.R433Q|ENST00000429646,p.R178Q|ENST00000360986,p.R570Q|NM_001014447,p.R570Q|uc003glm.3,p.R570Q|ENST00000382480,p.R433Q|NM_001014448,p.R433Q|uc003glo.3,p.R559Q|ENST00000315782,p.R559Q|NM_003652,p.R559Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003glo.3	nonsynonymous SNV	exon10	c.G1676A	p.R559Q	YAKVIKKVIIPARMKRAGRVDFILQ	YAKVIKKVIIPAQMKRAGRVDFILQ	1.0	9.0	unscreened	-	1913_4:8621094-8621094 G>A_YAKVIKKVIIPAQMKRAGRVDFILQ
12:69252821-69252821 C>T	0.0	1913	MELANOMA	-	-	-	-	CPM	ENST00000338356,p.G324E|NM_198320,p.G324E|uc001suq.3,p.G324E|ENST00000546373,p.G324E|uc001sup.3,p.G324E|NM_001005502,p.G324E|ENST00000551568,p.G324E|NM_001874,p.G324E|uc001sur.3,p.G324E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sur.3	nonsynonymous SNV	exon8	c.G971A	p.G324E	HLGVKGQVFDQNGNPLPNVIVEVQD	HLGVKGQVFDQNENPLPNVIVEVQD	1.0	9.0	unscreened	-	1913_12:69252821-69252821 C>T_HLGVKGQVFDQNENPLPNVIVEVQD
2:179702155-179702155 G>A	0.0	1913	MELANOMA	-	-	-	-	CCDC141	ENST00000343876,p.S708F|NM_173648,p.S1264F|uc002une.2,p.S1264F|ENST00000420890,p.S1264F|uc002unf.1,p.S743F|ENST00000295723,p.S689F	protein_coding, processed_transcript	uc002unf.1	nonsynonymous SNV	exon13	c.C2228T	p.S743F	QAGTSSPGDAQESVLPPPVAFADAC	QAGTSSPGDAQEFVLPPPVAFADAC	1.0	6.0	unscreened	-	1913_2:179702155-179702155 G>A_QAGTSSPGDAQEFVLPPPVAFADAC
X:57407397-57407397 G>A	0.0	1913	MELANOMA	-	-	-	-	FAAH2	NM_174912,p.E311K|uc004dvc.3,p.E311K|ENST00000374900,p.E311K	protein_coding, processed_transcript	uc004dvc.3	nonsynonymous SNV	exon7	c.G931A	p.E311K	KVHLKDLKFYWMEHDGGSFLMSKVD	KVHLKDLKFYWMKHDGGSFLMSKVD	1.0	9.0	unscreened	-	1913_X:57407397-57407397 G>A_KVHLKDLKFYWMKHDGGSFLMSKVD
15:35083431-35083431 G>A	0.0	1913	MELANOMA	-	-	-	-	ACTC1	NM_005159,p.R292C|ENST00000290378,p.R292C|uc001ziu.1,p.R292C	retained_intron, protein_coding, processed_transcript	uc001ziu.1	nonsynonymous SNV	exon6	c.C874T	p.R292C	TYNSIMKCDIDIRKDLYANNVLSGG	TYNSIMKCDIDICKDLYANNVLSGG	1.0	9.0	unscreened	-	1913_15:35083431-35083431 G>A_TYNSIMKCDIDICKDLYANNVLSGG
5:168216578-168216578 A>G	0.0	1913	MELANOMA	-	-	-	-	SLIT3	NM_003062,p.S356P|uc010jjg.4,p.S356P|uc003mab.4,p.S356P|ENST00000519560,p.S356P|ENST00000404867,p.S356P|uc010jji.2,p.S356P|uc003mac.1,p.S153P|NM_001271946,p.S356P|ENST00000332966,p.S356P	retained_intron, protein_coding, processed_transcript	uc010jji.2	nonsynonymous SNV	exon11	c.T1066C	p.S356P	SDIAPDAFQGLKSLTSLVLYGNKIT	SDIAPDAFQGLKPLTSLVLYGNKIT	1.0	9.0	unscreened	-	1913_5:168216578-168216578 A>G_SDIAPDAFQGLKPLTSLVLYGNKIT
10:53822355-53822355 G>A	0.0	1913	MELANOMA	-	-	-	-	PRKG1	uc001jjm.3,p.G285E|NM_001098512,p.G285E|uc001jjn.2,p.G300E|ENST00000373985,p.G273E|ENST00000401604,p.G285E|ENST00000373976,p.G158E|uc001jjo.3,p.G300E|NM_006258,p.G300E|ENST00000373980,p.G300E	protein_coding	uc001jjo.3	nonsynonymous SNV	exon7	c.G899A	p.G300E	SPSEDPVFLRTLGKGDWFGEKALQG	SPSEDPVFLRTLEKGDWFGEKALQG	5.0	5.0	unscreened	-	1913_10:53822355-53822355 G>A_SPSEDPVFLRTLEKGDWFGEKALQG
16:50745440-50745440 C>T	0.0	1913	MELANOMA	-	-	-	-	NOD2	uc002egl.1,p.L318F|uc010cbm.1,p.L318F|uc021tia.1,p.L372F|uc002egm.1,p.L540F|ENST00000300589,p.L540F|NM_022162,p.L540F|uc010cbl.1,p.L318F|NM_001293557,p.L513F|uc010cbk.1,p.L513F	protein_coding, processed_transcript, nonsense_mediated_decay	uc021tia.1	nonsynonymous SNV	exon5	c.C1114T	p.L372F	PDSASQGLGPSLLRGRLPTLLHLGR	PDSASQGLGPSLFRGRLPTLLHLGR	1.0	8.0	unscreened	-	1913_16:50745440-50745440 C>T_PDSASQGLGPSLFRGRLPTLLHLGR
3:21606079-21606079 C>T	0.0	1913	MELANOMA	-	-	-	-	ZNF385D	ENST00000446749,p.R88K	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000446749	nonsynonymous SNV	exon3	c.G263A	p.R88K	RKQIISCNICQLRFNSDMAQAKELD	RKQIISCNICQLKFNSDMAQAKELD	1.0	2.0	unscreened	-	1913_3:21606079-21606079 C>T_RKQIISCNICQLKFNSDMAQAKELD
14:20403884-20403884 C>T	0.0	1913	MELANOMA	-	-	-	-	OR4K1	NM_001004063,p.S20F|uc001vwj.2,p.S20F|ENST00000285600,p.S20F	protein_coding	uc001vwj.2	nonsynonymous SNV	exon1	c.C59T	p.S20F	MVSEFVLLGLSNSWGLQLFFFAIFS	MVSEFVLLGLSNFWGLQLFFFAIFS	1.0	1.0	unscreened	-	1913_14:20403884-20403884 C>T_MVSEFVLLGLSNFWGLQLFFFAIFS
14:37641513-37641513 G>A	0.0	1913	MELANOMA	-	-	-	-	SLC25A21	NM_030631,p.R15W|uc021rsf.1,p.R15W|ENST00000331299,p.R15W|NM_001171170,p.R15W|uc001wtz.2,p.R15W|ENST00000555449,p.R15W	retained_intron, protein_coding, processed_transcript	uc021rsf.1	nonsynonymous SNV	exon1	c.C43T	p.R15W	AKPEVSLVREASRQIVAGGSAGLVE	AKPEVSLVREASWQIVAGGSAGLVE	1.0	9.0	unscreened	-	1913_14:37641513-37641513 G>A_AKPEVSLVREASWQIVAGGSAGLVE
1:12837287-12837287 C>T	0.0	1913	MELANOMA	-	-	ID=COSM322794;OCCURENCE=1(lung)	-	PRAMEF12	NM_001080830,p.H333Y|ENST00000357726,p.H333Y|uc001aui.3,p.H333Y	protein_coding	uc001aui.3	nonsynonymous SNV	exon3	c.C997T	p.H333Y	LKELDLRGITLTHFSPEPLSVLLEQ	LKELDLRGITLTYFSPEPLSVLLEQ	1.0	3.0	unscreened	-	1913_1:12837287-12837287 C>T_LKELDLRGITLTYFSPEPLSVLLEQ
4:106158106-106158106 T>A	0.0	1913	MELANOMA	-	-	-	1	TET2	ENST00000540549,p.W1003R|ENST00000265149,p.W1003R|ENST00000413648,p.W1003R|ENST00000380013,p.W1003R|uc021xql.1,p.W1003R|ENST00000513237,p.W1024R|uc011cez.2,p.W1024R|ENST00000545826,p.W1003R|NM_001127208,p.W1003R|NM_017628,p.W1003R|ENST00000394764,p.W1003R|ENST00000305737,p.W1003R|uc003hxk.3,p.W1003R|uc010ilp.2,p.W1003R|uc021xqk.1,p.W1003R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xql.1	nonsynonymous SNV	exon1	c.T3007A	p.W1003R	ACMHTAPPENKTWKKVTKQENPPAS	ACMHTAPPENKTRKKVTKQENPPAS	5.0	9.0	unscreened	-	1913_4:106158106-106158106 T>A_ACMHTAPPENKTRKKVTKQENPPAS
16:89657645-89657645 G>A	0.0	1913	MELANOMA	-	-	ID=COSM3691270;OCCURENCE=1(large_intestine)	-	CPNE7	NM_153636,p.E427K|NM_014427,p.E502K|uc002fnp.3,p.E502K|ENST00000268720,p.E502K|uc002fnq.3,p.E427K|ENST00000319518,p.E427K|ENST00000529800,p.E147K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002fnq.3	nonsynonymous SNV	exon13	c.G1279A	p.E427K	PIISKVARVAAAEESTGKASQYYIL	PIISKVARVAAAKESTGKASQYYIL	3.0	8.0	unscreened	-	1913_16:89657645-89657645 G>A_PIISKVARVAAAKESTGKASQYYIL
12:14019093-14019093 G>A	0.0	1913	MELANOMA	-	-	-	-	GRIN2B	ENST00000279593,p.A17V|uc001rbt.2,p.A17V|NM_000834,p.A17V	protein_coding	uc001rbt.2	nonsynonymous SNV	exon2	c.C50T	p.A17V	AECCSPKFWLVLAVLAVSGSRARSQ	AECCSPKFWLVLVVLAVSGSRARSQ	1.0	8.0	unscreened	-	1913_12:14019093-14019093 G>A_AECCSPKFWLVLVVLAVSGSRARSQ
3:45814034-45814034 C>T	0.0	1913	MELANOMA	-	-	-	-	SLC6A20	ENST00000358525,p.G219E|ENST00000456124,p.G219E|ENST00000413781,p.G172E|NM_020208,p.G219E|uc011bai.2,p.G219E	retained_intron, protein_coding, processed_transcript	uc011bai.2	nonsynonymous SNV	exon5	c.G656A	p.G219E	LIIYLIRGLTLHGATNGLMYMFTPK	LIIYLIRGLTLHEATNGLMYMFTPK	1.0	4.0	unscreened	-	1913_3:45814034-45814034 C>T_LIIYLIRGLTLHEATNGLMYMFTPK
1:176563978-176563978 C>T	0.0	1913	MELANOMA	-	-	-	-	PAPPA2	NM_021936,p.S413F|NM_020318,p.S413F|ENST00000367661,p.S413F|ENST00000367662,p.S413F|uc001gkz.3,p.S413F|uc001gky.1,p.S413F	protein_coding, processed_transcript	uc001gkz.3	nonsynonymous SNV	exon3	c.C1238T	p.S413F	ASCRSLLLGGDSSEDGHYFRGHLGT	ASCRSLLLGGDSFEDGHYFRGHLGT	1.0	7.0	unscreened	-	1913_1:176563978-176563978 C>T_ASCRSLLLGGDSFEDGHYFRGHLGT
21:31768675-31768675 C>T	0.0	1913	MELANOMA	-	-	-	-	KRTAP13-1	uc002yoa.3,p.P91S|NM_181599,p.P91S|ENST00000355459,p.P91S	protein_coding	uc002yoa.3	nonsynonymous SNV	exon1	c.C271T	p.P91S	SCYRPRTSLLCSPCQTTYSGSLGFG	SCYRPRTSLLCSSCQTTYSGSLGFG	1.0	2.0	unscreened	-	1913_21:31768675-31768675 C>T_SCYRPRTSLLCSSCQTTYSGSLGFG
14:103601678-103601678 C>T	0.0	1913	MELANOMA	-	-	-	-	TNFAIP2	uc010tya.1,p.S132F|ENST00000538222,p.S132F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tya.1	nonsynonymous SNV	exon4	c.C395T	p.S132F	SMGAQEPSRPLFSLIKPRAAVSGIQ	SMGAQEPSRPLFFLIKPRAAVSGIQ	4.0	2.0	unscreened	-	1913_14:103601678-103601678 C>T_SMGAQEPSRPLFFLIKPRAAVSGIQ
19:38027951-38027951 T>A	0.0	1913	MELANOMA	-	-	-	-	ZNF793	ENST00000589319,p.S131T	protein_coding, nonsense_mediated_decay	ENST00000589319	nonsynonymous SNV	exon7	c.T391A	p.S131T	FGKISLLSTDLFSSIQSPTW	FGKISLLSTDLFTSIQSPTW	3.0	9.0	unscreened	-	1913_19:38027951-38027951 T>A_FGKISLLSTDLFTSIQSPTW
3:21606079-21606079 C>T	0.0	1913	MELANOMA	-	-	-	-	ZNF385D	ENST00000281523,p.R88K|uc003cce.3,p.R88K|NM_024697,p.R88K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003cce.3	nonsynonymous SNV	exon3	c.G263A	p.R88K	RKQIISCNICQLRFNSDSQAAAHYK	RKQIISCNICQLKFNSDSQAAAHYK	1.0	2.0	unscreened	-	1913_3:21606079-21606079 C>T_RKQIISCNICQLKFNSDSQAAAHYK
3:169540032-169540032 C>T	0.0	1913	MELANOMA	-	-	-	-	LRRIQ4	NM_001080460,p.S108F|ENST00000340806,p.S108F|uc003fgb.3,p.S108F	protein_coding	uc003fgb.3	nonsynonymous SNV	exon1	c.C323T	p.S108F	LESLDLSYNPIFSSSLVVVSFLHAL	LESLDLSYNPIFFSSLVVVSFLHAL	2.0	3.0	unscreened	-	1913_3:169540032-169540032 C>T_LESLDLSYNPIFFSSLVVVSFLHAL
1:1854851-1854851 C>T	0.0	1913	MELANOMA	-	-	-	-	TMEM52,CFAP74	uc001ail.3,p.E159K|uc001aik.3,p.E159K|ENST00000493964,p.E776K	retained_intron, protein_coding, processed_transcript	uc001ail.3	nonsynonymous SNV	exon7	c.G475A	p.E159K	FVEGGDPLDVPVESLTAIPVFDPRH	FVEGGDPLDVPVKSLTAIPVFDPRH	1.0	2.0	unscreened	-	1913_1:1854851-1854851 C>T_FVEGGDPLDVPVKSLTAIPVFDPRH
1:16580158-16580158 C>T	1.0	1913	MELANOMA	-	-	-	-	FBXO42	NM_018994,p.S279N|uc001ayf.3,p.S186N|uc001ayg.3,p.S279N|ENST00000375592,p.S279N	protein_coding, processed_transcript	uc001ayg.3	nonsynonymous SNV	exon7	c.G836A	p.S279N	QWAWSKPNISGPSPHPRGGQSQIVI	QWAWSKPNISGPNPHPRGGQSQIVI	8.0	1.0	unscreened	-	1913_1:16580158-16580158 C>T_QWAWSKPNISGPNPHPRGGQSQIVI
16:21215482-21215482 G>A	0.0	1913	MELANOMA	-	-	-	-	ZP2	ENST00000574002,p.P281S|uc010bwn.1,p.P320S|uc010bwo.3,p.P320S|ENST00000219593,p.P281S|ENST00000574091,p.P281S|NM_001290104,p.P281S|NM_003460,p.P281S|uc002dii.2,p.P281S	retained_intron, protein_coding	uc010bwo.3	nonsynonymous SNV	exon9	c.C958T	p.P320S	NATHMTLTIPEFPGKLKSVSFENQN	NATHMTLTIPEFSGKLKSVSFENQN	1.0	1.0	unscreened	-	1913_16:21215482-21215482 G>A_NATHMTLTIPEFSGKLKSVSFENQN
3:156139412-156139412 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1693668,COSM1693670,COSM1693669;OCCURENCE=1(skin)	-	KCNAB1	uc010hvt.1,p.G77R|ENST00000302490,p.G77R|ENST00000389634,p.G77R|NM_172159,p.G77R|uc003fat.2,p.G77R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hvt.1	nonsynonymous SNV	exon2	c.G229A	p.G77R	TAKQTGMKYRNLGKSGLRVSCLGLG	TAKQTGMKYRNLRKSGLRVSCLGLG	8.0	7.0	unscreened	-	1913_3:156139412-156139412 G>A_TAKQTGMKYRNLRKSGLRVSCLGLG
3:119338490-119338490 C>T	0.0	1913	MELANOMA	-	-	-	-	PLA1A	uc011bjc.2,p.P162S|ENST00000494440,p.P319S|NM_001293225,p.P319S|NM_001206961,p.P162S|NM_001206960,p.P319S|ENST00000495992,p.P319S|ENST00000488919,p.P162S|uc003ecu.3,p.P335S|uc003ecv.3,p.P319S|ENST00000273371,p.P335S|NM_015900,p.P335S	retained_intron, protein_coding	uc011bjc.2	nonsynonymous SNV	exon7	c.C484T	p.P162S	EVKVYLLTTSSAPYCMHHSLVEFHL	EVKVYLLTTSSASYCMHHSLVEFHL	1.0	7.0	unscreened	-	1913_3:119338490-119338490 C>T_EVKVYLLTTSSASYCMHHSLVEFHL
11:67176554-67176554 C>T	0.0	1913	MELANOMA	-	-	-	-	TBC1D10C	uc001ola.4,p.L315F|ENST00000312390,p.L315F|NM_198517,p.L315F|ENST00000542590,p.L315F	retained_intron, protein_coding, nonsense_mediated_decay	uc001ola.4	nonsynonymous SNV	exon9	c.C943T	p.L315F	GACPGLLETLGALRAIPPAQLQEEA	GACPGLLETLGAFRAIPPAQLQEEA	4.0	9.0	unscreened	-	1913_11:67176554-67176554 C>T_GACPGLLETLGAFRAIPPAQLQEEA
19:22364152-22364152 G>A	0.0	1913	MELANOMA	-	-	-	-	ZNF676	NM_001001411,p.H123Y|ENST00000397121,p.H123Y|uc002nqs.1,p.H123Y	protein_coding	uc002nqs.1	nonsynonymous SNV	exon3	c.C367T	p.H123Y	KVFQCGKYANVFHKCSNSNRHKIRH	KVFQCGKYANVFYKCSNSNRHKIRH	1.0	7.0	unscreened	-	1913_19:22364152-22364152 G>A_KVFQCGKYANVFYKCSNSNRHKIRH
19:54313928-54313928 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1712750,COSM192951;OCCURENCE=1(skin),1(large_intestine)	-	NLRP12	uc002qch.5,p.R329W|ENST00000324134,p.R329W|NM_144687,p.R329W|NM_001277126,p.R329W|ENST00000345770,p.R329W|NM_001277129,p.R329W|ENST00000351894,p.R329W|ENST00000391773,p.R329W|ENST00000391775,p.R329W|ENST00000354278,p.R329W|uc002qci.5,p.R329W|uc010eqx.4,p.R329W|uc002qcj.5,p.R329W|ENST00000391772,p.R329W|ENST00000535162,p.R329W	retained_intron, protein_coding	uc010eqx.4	nonsynonymous SNV	exon3	c.C985T	p.R329W	KRPTELLLNSLIRKKLLPELSLLIT	KRPTELLLNSLIWKKLLPELSLLIT	1.0	4.0	unscreened	-	1913_19:54313928-54313928 G>A_KRPTELLLNSLIWKKLLPELSLLIT
12:32974301-32974301 C>T	0.0	1913	MELANOMA	-	-	-	-	PKP2	ENST00000070846,p.G712R|NM_001005242,p.G668R|ENST00000340811,p.G668R|uc001rlj.4,p.G712R|uc001rlk.4,p.G668R|uc010skj.2,p.G665R|NM_004572,p.G712R	retained_intron, protein_coding, processed_transcript	uc010skj.2	nonsynonymous SNV	exon9	c.G1993A	p.G665R	EASLGALQNLTAGSGPMPTSVAQTV	EASLGALQNLTARSGPMPTSVAQTV	1.0	2.0	unscreened	-	1913_12:32974301-32974301 C>T_EASLGALQNLTARSGPMPTSVAQTV
1:158597495-158597495 C>T	0.0	1913	MELANOMA	-	-	-	-	SPTA1	ENST00000368147,p.E1862K|ENST00000368148,p.E1862K|NM_003126,p.E1862K|uc001fst.1,p.E1862K	protein_coding, processed_transcript	uc001fst.1	nonsynonymous SNV	exon40	c.G5584A	p.E1862K	TLAATQSLLMKHEALENDFAVHETR	TLAATQSLLMKHKALENDFAVHETR	1.0	8.0	unscreened	-	1913_1:158597495-158597495 C>T_TLAATQSLLMKHKALENDFAVHETR
3:41439752-41439752 G>A	0.0	1913	MELANOMA	-	-	-	-	ULK4	NM_017886,p.P1166S|ENST00000301831,p.P1166S|uc003ckv.4,p.P1166S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ckv.4	nonsynonymous SNV	exon35	c.C3496T	p.P1166S	LTDLISLLIPLLPNEDPEIFDVSSK	LTDLISLLIPLLSNEDPEIFDVSSK	5.0	9.0	unscreened	-	1913_3:41439752-41439752 G>A_LTDLISLLIPLLSNEDPEIFDVSSK
12:129558883-129558883 C>T	0.0	1913	MELANOMA	-	-	-	-	TMEM132D	NM_133448,p.R946K|uc009zyl.1,p.R946K|ENST00000389441,p.R484K|ENST00000422113,p.R946K|uc001uia.2,p.R484K	protein_coding	uc009zyl.1	nonsynonymous SNV	exon9	c.G2837A	p.R946K	FLINCVTFALKYRHKQVPFEEQEGM	FLINCVTFALKYKHKQVPFEEQEGM	1.0	2.0	unscreened	-	1913_12:129558883-129558883 C>T_FLINCVTFALKYKHKQVPFEEQEGM
19:14991651-14991651 C>T	0.0	1913	MELANOMA	-	-	-	-	OR7A17	uc010xob.2,p.E173K|NM_030901,p.E173K|ENST00000327462,p.E173K	protein_coding	uc010xob.2	nonsynonymous SNV	exon1	c.G517A	p.E173K	LMVLWLSFCTDLEIPHFFCELNQVI	LMVLWLSFCTDLKIPHFFCELNQVI	1.0	2.0	unscreened	-	1913_19:14991651-14991651 C>T_LMVLWLSFCTDLKIPHFFCELNQVI
1:248402242-248402242 A>T	0.0	1913	MELANOMA	-	-	-	-	OR2M4	uc010pzh.2,p.E4D|ENST00000306687,p.E4D|NM_017504,p.E4D	protein_coding	uc010pzh.2	nonsynonymous SNV	exon1	c.A12T	p.E4D	MVWENQTFNSIFILLG	MVWDNQTFNSIFILLG	1.0	1.0	unscreened	-	1913_1:248402242-248402242 A>T_MVWDNQTFNSIFILLG
12:55759387-55759387 G>A	0.0	1913	MELANOMA	-	-	-	-	OR6C75	uc010spk.2,p.D165N|ENST00000343399,p.D165N|NM_001005497,p.D165N	protein_coding	uc010spk.2	nonsynonymous SNV	exon1	c.G493A	p.D165N	IIFPPVMLLLQLDFCASNVIDHFIC	IIFPPVMLLLQLNFCASNVIDHFIC	1.0	9.0	unscreened	-	1913_12:55759387-55759387 G>A_IIFPPVMLLLQLNFCASNVIDHFIC
10:26414414-26414414 G>A	0.0	1913	MELANOMA	-	-	ID=COSM3436811;OCCURENCE=1(breast)	-	MYO3A	uc001isn.2,p.R664Q|ENST00000265944,p.R664Q|uc009xko.1,p.R664Q|NM_017433,p.R664Q	protein_coding, processed_transcript	uc009xko.1	nonsynonymous SNV	exon19	c.G1991A	p.R664Q	SHCVVTRGETIIRPNTVEKATDVRD	SHCVVTRGETIIQPNTVEKATDVRD	1.0	4.0	unscreened	-	1913_10:26414414-26414414 G>A_SHCVVTRGETIIQPNTVEKATDVRD
5:31323354-31323354 G>A	0.0	1913	MELANOMA	-	-	-	-	CDH6	ENST00000265071,p.G771E|uc003jhe.2,p.G771E|NM_004932,p.G771E	retained_intron, protein_coding	uc003jhe.2	nonsynonymous SNV	exon12	c.G2312A	p.G771E	DADQDYDYLSDWGPRFKKLADMYGG	DADQDYDYLSDWEPRFKKLADMYGG	2.0	9.0	unscreened	-	1913_5:31323354-31323354 G>A_DADQDYDYLSDWEPRFKKLADMYGG
3:78667189-78667189 C>T	1.0	1913	MELANOMA	-	-	ID=COSM1425435,COSM1425437,COSM1425436,COSM1425434;OCCURENCE=1(large_intestine)	-	ROBO1	uc010hoh.2,p.R485Q|uc003dqc.2,p.R1193Q|ENST00000464233,p.R1293Q|ENST00000436010,p.R1254Q|ENST00000467549,p.R1193Q|NM_001145845,p.R1193Q|uc003dqb.2,p.R1254Q|uc011bgl.1,p.R865Q|NM_133631,p.R1248Q|ENST00000495273,p.R1248Q|NM_002941,p.R1293Q|uc003dqd.2,p.R1248Q|uc003dqe.2,p.R1293Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bgl.1	nonsynonymous SNV	exon17	c.G2594A	p.R865Q	ETGHMQHQPDRRRQPVSPPPPPRPI	ETGHMQHQPDRRQQPVSPPPPPRPI	9.0	2.0	unscreened	-	1913_3:78667189-78667189 C>T_ETGHMQHQPDRRQQPVSPPPPPRPI
9:107566949-107566949 G>A	0.0	1913	MELANOMA	-	-	-	-	ABCA1	ENST00000374736,p.S1506L|NM_005502,p.S1506L|uc004bcl.3,p.S1506L	protein_coding, processed_transcript	uc004bcl.3	nonsynonymous SNV	exon32	c.C4517T	p.S1506L	ADILQDLTGRNISDYLVKTYVQIIA	ADILQDLTGRNILDYLVKTYVQIIA	2.0	4.0	unscreened	-	1913_9:107566949-107566949 G>A_ADILQDLTGRNILDYLVKTYVQIIA
19:17729246-17729246 G>A	0.0	1913	MELANOMA	-	-	-	-	UNC13A	ENST00000550896,p.A1438V|ENST00000551649,p.A1465V|uc031rjw.1,p.A1465V|ENST00000519716,p.A1465V|ENST00000252773,p.A1465V|ENST00000428389,p.A1553V|ENST00000552293,p.A1440V|NM_001080421,p.A1465V	retained_intron, protein_coding	uc031rjw.1	nonsynonymous SNV	exon40	c.C4394T	p.A1465V	SLTPKQCAVVELALDTIKQYFHAGG	SLTPKQCAVVELVLDTIKQYFHAGG	1.0	9.0	unscreened	-	1913_19:17729246-17729246 G>A_SLTPKQCAVVELVLDTIKQYFHAGG
2:21231216-21231216 C>T	0.0	1913	MELANOMA	-	-	-	-	APOB	ENST00000233242,p.E2842K|uc002red.3,p.E2842K|NM_000384,p.E2842K	protein_coding	uc002red.3	nonsynonymous SNV	exon26	c.G8524A	p.E2842K	FSSKYLRTEHGSEMLFFGNAIEGKS	FSSKYLRTEHGSKMLFFGNAIEGKS	1.0	9.0	unscreened	-	1913_2:21231216-21231216 C>T_FSSKYLRTEHGSKMLFFGNAIEGKS
2:1241692-1241692 G>A	0.0	1913	MELANOMA	-	-	-	-	SNTG2	NM_018968,p.G251E|uc010ewi.3,p.G124E|uc002qwq.3,p.G251E|ENST00000308624,p.G251E|ENST00000407292,p.G124E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ewi.3	nonsynonymous SNV	exon4	c.G371A	p.G124E	LRWNAFEVLALDGVSSGILRFYTAQ	LRWNAFEVLALDEVSSGILRFYTAQ	1.0	9.0	unscreened	-	1913_2:1241692-1241692 G>A_LRWNAFEVLALDEVSSGILRFYTAQ
5:192429-192429 C>T	0.0	1913	MELANOMA	-	-	-	-	LRRC14B	ENST00000328278,p.S259F|NM_001080478,p.S259F|uc003jal.1,p.S259F	protein_coding	uc003jal.1	nonsynonymous SNV	exon1	c.C776T	p.S259F	PTKAFDAPPTYASTPDGEDPLLASI	PTKAFDAPPTYAFTPDGEDPLLASI	1.0	4.0	unscreened	-	1913_5:192429-192429 C>T_PTKAFDAPPTYAFTPDGEDPLLASI
2:29221020-29221020 G>A	0.0	1913	MELANOMA	-	-	-	-	FAM179A	uc010ezl.3,p.V14I|ENST00000403861,p.V14I|uc010ymm.2,p.V14I|NM_199280,p.V14I|ENST00000420297,p.V14I|ENST00000379558,p.V14I	retained_intron, protein_coding, processed_transcript	uc010ymm.2	nonsynonymous SNV	exon3	c.G40A	p.V14I	GTRDDVPEAKVLVPVAVYCGSIPRT	GTRDDVPEAKVLIPVAVYCGSIPRT	3.0	8.0	unscreened	-	1913_2:29221020-29221020 G>A_GTRDDVPEAKVLIPVAVYCGSIPRT
9:113170289-113170289 C>T	0.0	1913	MELANOMA	0.0041	-	-	-	SVEP1	ENST00000401783,p.E2531K|ENST00000297826,p.E457K|ENST00000374469,p.E2508K|uc010mtz.3,p.E2531K|uc010mty.3,p.E457K|NM_153366,p.E2531K	protein_coding, processed_transcript	uc010mtz.3	nonsynonymous SNV	exon38	c.G7591A	p.E2531K	TVTYSCNRGFRLEGPSALTCLETGD	TVTYSCNRGFRLKGPSALTCLETGD	1.0	9.0	unscreened	-	1913_9:113170289-113170289 C>T_TVTYSCNRGFRLKGPSALTCLETGD
X:115588867-115588867 G>A	0.0	1913	MELANOMA	-	-	-	-	SLC6A14	NM_007231,p.M569I|ENST00000371900,p.M569I|uc004eqi.3,p.M569I	protein_coding, processed_transcript	uc004eqi.3	nonsynonymous SNV	exon13	c.G1707A	p.M569I	PYPDWGVALGWCMIVFCIIWIPIMA	PYPDWGVALGWCIIVFCIIWIPIMA	1.0	9.0	unscreened	-	1913_X:115588867-115588867 G>A_PYPDWGVALGWCIIVFCIIWIPIMA
2:230910467-230910467 A>T	0.0	1913	MELANOMA	-	-	-	-	SLC16A14	NM_152527,p.F459I|ENST00000295190,p.F459I|uc002vqd.2,p.F459I	protein_coding	uc002vqd.2	nonsynonymous SNV	exon4	c.T1375A	p.F459I	CANGISALLGPPFAGWIYDITQKYD	CANGISALLGPPIAGWIYDITQKYD	1.0	5.0	unscreened	-	1913_2:230910467-230910467 A>T_CANGISALLGPPIAGWIYDITQKYD
9:4576639-4576639 T>C	0.0	1913	MELANOMA	-	-	-	-	SLC1A1	ENST00000262352,p.F357L|uc003zij.2,p.F357L|NM_004170,p.F357L	protein_coding, processed_transcript	uc003zij.2	nonsynonymous SNV	exon10	c.T1069C	p.F357L	EENNQVDKRITRFVLPVGATINMDG	EENNQVDKRITRLVLPVGATINMDG	2.0	9.0	unscreened	-	1913_9:4576639-4576639 T>C_EENNQVDKRITRLVLPVGATINMDG
11:20940837-20940837 G>A	0.0	1913	MELANOMA	-	-	-	-	NELL1	uc009yid.3,p.G267E|NM_001288713,p.G267E|NM_006157,p.G239E|ENST00000298925,p.G267E|uc001mqf.3,p.G239E|ENST00000532434,p.G239E|uc001mqe.3,p.G239E|NM_001288714,p.G182E|uc010rdo.2,p.G182E|ENST00000357134,p.G239E|NM_201551,p.G239E|ENST00000325319,p.G182E	retained_intron, protein_coding, processed_transcript	uc010rdo.2	nonsynonymous SNV	exon6	c.G545A	p.G182E	CPTCSDFLSLVQGIMDLQELLAKMT	CPTCSDFLSLVQEIMDLQELLAKMT	1.0	1.0	unscreened	-	1913_11:20940837-20940837 G>A_CPTCSDFLSLVQEIMDLQELLAKMT
3:119338490-119338490 C>T	0.0	1913	MELANOMA	-	-	-	-	PLA1A	ENST00000475963,p.P201S	retained_intron, protein_coding	ENST00000475963	nonsynonymous SNV	exon6	c.C601T	p.P201S	EVKVYLLTTSSAPYCNAFQLLTVAP	EVKVYLLTTSSASYCNAFQLLTVAP	1.0	7.0	unscreened	-	1913_3:119338490-119338490 C>T_EVKVYLLTTSSASYCNAFQLLTVAP
20:9561382-9561382 C>T	0.0	1913	MELANOMA	-	-	-	-	PAK7	uc002wnj.2,p.E134K|NM_177990,p.E134K|uc002wnk.2,p.E134K|ENST00000378429,p.E134K|uc010gby.1,p.E134K|NM_020341,p.E134K|ENST00000378423,p.E134K|uc002wnl.2,p.E134K|ENST00000353224,p.E134K	protein_coding	uc010gby.1	nonsynonymous SNV	exon4	c.G400A	p.E134K	ENGFITFSQYSSESDTTADYTTEKY	ENGFITFSQYSSKSDTTADYTTEKY	1.0	5.0	unscreened	-	1913_20:9561382-9561382 C>T_ENGFITFSQYSSKSDTTADYTTEKY
1:173013088-173013088 C>T	0.0	1913	MELANOMA	-	-	-	-	TNFSF18	ENST00000239468,p.A60T|ENST00000404377,p.A82T|NM_005092,p.A82T|uc001giu.2,p.A82T	protein_coding	uc001giu.2	nonsynonymous SNV	exon2	c.G244A	p.A82T	FLQLETAKEPCMAKFGPLPSKWQMA	FLQLETAKEPCMTKFGPLPSKWQMA	1.0	2.0	unscreened	-	1913_1:173013088-173013088 C>T_FLQLETAKEPCMTKFGPLPSKWQMA
1:76397840-76397840 C>T	0.0	1913	MELANOMA	-	-	-	-	ASB17	NM_080868,p.R46K|uc001dhe.2,p.R46K|ENST00000284142,p.R46K	protein_coding	uc001dhe.2	nonsynonymous SNV	exon1	c.G137A	p.R46K	FLGQWGYHCYEPRIYRSLAKILRYV	FLGQWGYHCYEPKIYRSLAKILRYV	1.0	9.0	unscreened	-	1913_1:76397840-76397840 C>T_FLGQWGYHCYEPKIYRSLAKILRYV
2:21247996-21247996 C>T	0.0	1913	MELANOMA	-	-	-	-	APOB	ENST00000399256,p.D749N|NM_000384,p.D749N|uc002red.3,p.D749N|ENST00000233242,p.D749N	protein_coding	uc002red.3	nonsynonymous SNV	exon16	c.G2245A	p.D749N	HFGYTKDDKHEQDMVNGIMLSVEKL	HFGYTKDDKHEQNMVNGIMLSVEKL	1.0	9.0	unscreened	-	1913_2:21247996-21247996 C>T_HFGYTKDDKHEQNMVNGIMLSVEKL
2:141459749-141459749 G>A	0.0	1913	MELANOMA	-	-	-	1	LRP1B	uc002tvj.1,p.S2088L|NM_018557,p.S2088L|ENST00000389484,p.S2088L	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon39	c.C6263T	p.S2088L	EMVLSGSNVDMFSVAVFGAYIYWSD	EMVLSGSNVDMFLVAVFGAYIYWSD	3.0	6.0	unscreened	-	1913_2:141459749-141459749 G>A_EMVLSGSNVDMFLVAVFGAYIYWSD
12:81688651-81688651 G>A	0.0	1913	MELANOMA	-	-	-	-	PPFIA2	uc031qiu.1,p.S889F|uc031qii.1,p.S530F|NM_001220476,p.S963F|uc031qit.1,p.S180F|ENST00000443686,p.S864F|uc031qir.1,p.S963F|uc031qix.1,p.S963F|NM_001220477,p.S889F|uc031qip.1,p.S963F|uc031qiw.1,p.S963F|ENST00000548586,p.S963F|ENST00000541570,p.S530F|ENST00000550584,p.S963F|uc031qin.1,p.S948F|NM_001220479,p.S530F|uc031qio.1,p.S963F|NM_001282536,p.S810F|NM_001220475,p.S963F|uc031qiv.1,p.S864F|ENST00000549325,p.S948F|ENST00000541017,p.S180F|ENST00000549396,p.S963F|NM_001220473,p.S963F|uc031qik.1,p.S889F|ENST00000550359,p.S810F|uc031qim.1,p.S963F|ENST00000407050,p.S889F|uc031qis.1,p.S963F|uc031qij.1,p.S180F|ENST00000552948,p.S963F|uc031qil.1,p.S864F|NM_003625,p.S963F|ENST00000333447,p.S948F|uc031qih.1,p.S530F|uc031qiy.1,p.S963F|NM_001220478,p.S864F|NM_001220480,p.S180F|NM_001220474,p.S948F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qiy.1	nonsynonymous SNV	exon22	c.C2888T	p.S963F	RLKLRLAIQEMVSLTSPSAPPTSRT	RLKLRLAIQEMVFLTSPSAPPTSRT	4.0	9.0	unscreened	-	1913_12:81688651-81688651 G>A_RLKLRLAIQEMVFLTSPSAPPTSRT
11:12376356-12376356 C>T	0.0	1913	MELANOMA	-	-	-	-	MICALCL	uc001mkg.1,p.H619Y|NM_032867,p.H619Y|ENST00000256186,p.H619Y	protein_coding, processed_transcript	uc001mkg.1	nonsynonymous SNV	exon8	c.C1855T	p.H619Y	LLIMAQELELEDHQSRLEQKLREKM	LLIMAQELELEDYQSRLEQKLREKM	1.0	3.0	unscreened	-	1913_11:12376356-12376356 C>T_LLIMAQELELEDYQSRLEQKLREKM
2:179472716-179472716 C>T	0.0	1913	MELANOMA	-	-	-	-	TTN	ENST00000342992,p.E15032K|NM_133432,p.E8660K|uc031rqd.1,p.E15959K|NM_001267550,p.E17600K|ENST00000460472,p.E8535K|uc021vsz.2,p.E8727K|NM_133437,p.E8727K|uc031rqc.1,p.E17600K|ENST00000591111,p.E15959K|ENST00000589042,p.E17600K|uc021vtb.2,p.E8535K|uc021vta.2,p.E8660K|NM_133378,p.E15032K|NM_003319,p.E8535K|ENST00000342175,p.E8727K|ENST00000359218,p.E8660K|uc021vsy.2,p.E15032K|NM_001256850,p.E15959K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon226	c.G47875A	p.E15959K	LEWEPPAFNGGGEIVGYFVDKQLVG	LEWEPPAFNGGGKIVGYFVDKQLVG	2.0	6.0	unscreened	-	1913_2:179472716-179472716 C>T_LEWEPPAFNGGGKIVGYFVDKQLVG
14:92105451-92105451 G>A	0.0	1913	MELANOMA	-	-	-	-	CATSPERB	NM_024764,p.L526F|ENST00000256343,p.L526F|uc010aub.1,p.L48F|uc001xzs.1,p.L526F	retained_intron, protein_coding, nonsense_mediated_decay	uc010aub.1	nonsynonymous SNV	exon2	c.C142T	p.L48F	SGPPTAFGNSRNLFGQPPDMGFETA	SGPPTAFGNSRNFFGQPPDMGFETA	1.0	1.0	unscreened	-	1913_14:92105451-92105451 G>A_SGPPTAFGNSRNFFGQPPDMGFETA
6:73904848-73904848 G>A	0.0	1913	MELANOMA	-	-	-	-	KCNQ5	ENST00000355194,p.R837K|NM_001160133,p.R856K|uc010kat.3,p.R828K|uc011dyi.2,p.R847K|NM_001160134,p.R727K|ENST00000414165,p.R727K|uc003pgk.3,p.R837K|ENST00000355635,p.R838K|NM_001160130,p.R828K|NM_001160132,p.R847K|ENST00000403813,p.R828K|NM_019842,p.R837K|ENST00000370398,p.R837K|uc011dyj.2,p.R727K|uc011dyk.2,p.R587K|ENST00000402622,p.R847K|ENST00000342056,p.R856K|uc011dyh.2,p.R856K	protein_coding	uc011dyk.2	nonsynonymous SNV	exon12	c.G1760A	p.R587K	DLGKSLSVQNLIRSTEELNIQLSGS	DLGKSLSVQNLIKSTEELNIQLSGS	1.0	3.0	unscreened	-	1913_6:73904848-73904848 G>A_DLGKSLSVQNLIKSTEELNIQLSGS
1:157739889-157739889 C>T	0.0	1913	MELANOMA	-	-	-	-	FCRL2	ENST00000361516,p.G121E|NM_030764,p.G121E|ENST00000392274,p.G121E|uc010pia.1,p.G121E|uc010phz.1,p.G121E|uc001fre.2,p.G121E|NM_001159488,p.G121E	retained_intron, protein_coding	uc010pia.1	nonsynonymous SNV	exon4	c.G362A	p.G121E	PVLTASSFQPIEGGPVSLKCETRLS	PVLTASSFQPIEEGPVSLKCETRLS	1.0	7.0	unscreened	-	1913_1:157739889-157739889 C>T_PVLTASSFQPIEEGPVSLKCETRLS
1:17603269-17603269 G>A	0.0	1913	MELANOMA	-	-	-	-	PADI3	uc001bai.3,p.G485S|ENST00000375460,p.G485S|NM_016233,p.G485S	protein_coding	uc001bai.3	nonsynonymous SNV	exon13	c.G1453A	p.G485S	EFLSFVPAPDGKGFRMLLASPGACF	EFLSFVPAPDGKSFRMLLASPGACF	1.0	3.0	unscreened	-	1913_1:17603269-17603269 G>A_EFLSFVPAPDGKSFRMLLASPGACF
12:117768411-117768411 G>A	0.0	1913	MELANOMA	-	-	-	-	NOS1	ENST00000338101,p.P155L|NM_001204218,p.P155L|uc001twm.2,p.P155L|ENST00000344089,p.P155L|NM_000620,p.P155L|ENST00000317775,p.P155L|uc001twn.2,p.P155L	protein_coding, processed_transcript	uc001twn.2	nonsynonymous SNV	exon2	c.C464T	p.P155L	KEQPLAVDGASGPGNGPQHAYDDGQ	KEQPLAVDGASGLGNGPQHAYDDGQ	1.0	3.0	unscreened	-	1913_12:117768411-117768411 G>A_KEQPLAVDGASGLGNGPQHAYDDGQ
8:16035422-16035422 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1215601,COSM1215602;OCCURENCE=1(large_intestine)	-	MSR1	ENST00000518960,p.R26C|uc003wxa.3,p.R26C|ENST00000381998,p.R26C|ENST00000350896,p.R26C|uc010lsu.3,p.R44C|ENST00000445506,p.R44C|NM_138715,p.R26C|NM_138716,p.R26C|uc003wwz.3,p.R26C|uc003wxb.3,p.R26C|ENST00000518026,p.R37C|ENST00000355282,p.R26C|NM_002445,p.R26C|ENST00000262101,p.R26C	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lsu.3	nonsynonymous SNV	exon2	c.C130T	p.R44C	TDSCSESVKFDARSMTALLPPNPKN	TDSCSESVKFDACSMTALLPPNPKN	1.0	5.0	unscreened	-	1913_8:16035422-16035422 G>A_TDSCSESVKFDACSMTALLPPNPKN
10:135165612-135165612 C>T	0.0	1913	MELANOMA	-	-	-	-	PRAP1	ENST00000423766,p.P78L|NM_145202,p.P77L|ENST00000368554,p.P236L|uc021qbf.1,p.P236L|uc001lmp.2,p.P77L|ENST00000433452,p.P77L|uc001lmq.1,p.P49L	protein_coding, processed_transcript	uc021qbf.1	nonsynonymous SNV	exon7	c.C707T	p.P236L	VQKPKLLTTEEKPRGQGRGPILPGT	VQKPKLLTTEEKLRGQGRGPILPGT	8.0	4.0	unscreened	-	1913_10:135165612-135165612 C>T_VQKPKLLTTEEKLRGQGRGPILPGT
18:54278321-54278321 A>G	1.0	1913	MELANOMA	-	-	-	-	TXNL1	uc002lgg.3,p.V248A|ENST00000217515,p.V248A|uc002lgj.1,p.V248A|uc002lgi.3,p.V248A|ENST00000590954,p.V248A|NM_004786,p.V248A|ENST00000540155,p.V125A	protein_coding, processed_transcript, nonsense_mediated_decay	uc002lgj.1	nonsynonymous SNV	exon7	c.T743C	p.V248A	VKFQNVNSVTIFVQSNQGEEETTRI	VKFQNVNSVTIFAQSNQGEEETTRI	9.0	9.0	unscreened	-	1913_18:54278321-54278321 A>G_VKFQNVNSVTIFAQSNQGEEETTRI
19:9046523-9046523 C>T	0.0	1913	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.R11703K|NM_024690,p.R11703K|uc002mkp.3,p.R11703K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon5	c.G35108A	p.R11703K	VTHPPQTSTPVSRTTSSFSHSSPDA	VTHPPQTSTPVSKTTSSFSHSSPDA	1.0	8.0	unscreened	-	1913_19:9046523-9046523 C>T_VTHPPQTSTPVSKTTSSFSHSSPDA
1:228538575-228538575 C>T	0.0	1913	MELANOMA	-	-	-	-	OBSCN	uc001hsn.4,p.S6117L|uc009xez.2,p.S6117L|ENST00000366709,p.S3236L|ENST00000284548,p.S6117L|ENST00000366707,p.S3751L|NM_001271223,p.S7074L|NM_001098623,p.S6117L|NM_052843,p.S6117L|uc001hsq.2,p.S7074L|uc001hsr.1,p.S746L|ENST00000422127,p.S6117L|ENST00000570156,p.S7074L	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon77	c.C18350T	p.S6117L	QVPPRFVNKVRASPFVEGEDAQFTC	QVPPRFVNKVRALPFVEGEDAQFTC	4.0	8.0	unscreened	-	1913_1:228538575-228538575 C>T_QVPPRFVNKVRALPFVEGEDAQFTC
9:127146881-127146881 A>-	0.0	1913	MELANOMA	-	-	-	-	PSMB7	ENST00000259457,p.M189fs|NM_002799,p.M189fs|uc004boj.4,p.M189fs	protein_coding, processed_transcript	uc004boj.4	frameshift deletion	exon6	c.566delT	p.M189fs	AMAVFEDKFRPDMEEEEAKNLVSEA	AMAVFEDKFRPDRRRRKPRIW	10.0	3.0	unscreened	-	1913_9:127146881-127146881 A>-_AMAVFEDKFRPDRRRRKPRIW
X:139866204-139866204 C>T	0.0	1913	MELANOMA	-	-	-	-	CDR1	ENST00000370532,p.D110N|NM_004065,p.D110N|uc004fbg.1,p.D110N	protein_coding	uc004fbg.1	nonsynonymous SNV	exon1	c.G328A	p.D110N	DLLEDTDFLEDPDFLEAIDLREDKD	DLLEDTDFLEDPNFLEAIDLREDKD	1.0	9.0	unscreened	-	1913_X:139866204-139866204 C>T_DLLEDTDFLEDPNFLEAIDLREDKD
5:42719110-42719110 C>T	0.0	1913	MELANOMA	-	-	-	-	GHR	uc021xxy.1,p.L501F|NM_001242406,p.L501F|uc021xxw.1,p.L501F|NM_001242460,p.L479F|uc021xxv.1,p.L508F|ENST00000230882,p.L501F|ENST00000357703,p.L479F|uc011cpq.2,p.L314F|NM_001242400,p.L501F|NM_000163,p.L501F|uc021xxx.1,p.L501F|uc021xxz.1,p.L501F|NM_001242399,p.L508F|uc003jmt.3,p.L501F|NM_001242404,p.L501F|uc003jmu.3,p.L501F|NM_001242401,p.L501F|ENST00000537449,p.L314F|uc021xya.1,p.L501F|uc021xyd.1,p.L479F|NM_001242403,p.L501F|NM_001242405,p.L501F|uc003jmv.2,p.L501F|NM_001242402,p.L501F	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xyd.1	nonsynonymous SNV	exon8	c.C1435T	p.L479F	QVSDITPAGSVVLSPGQKNKAGMSQ	QVSDITPAGSVVFSPGQKNKAGMSQ	1.0	2.0	unscreened	-	1913_5:42719110-42719110 C>T_QVSDITPAGSVVFSPGQKNKAGMSQ
19:14705449-14705449 G>A	1.0	1913	MELANOMA	-	-	-	-	CLEC17A	ENST00000417570,p.E106K|ENST00000339847,p.E106K|NM_001204118,p.E106K|ENST00000551730,p.E106K|NM_207390,p.E106K|uc010xnu.2,p.E106K|uc010dzo.2,p.E106K|ENST00000547437,p.E106K|uc010dzn.2,p.E106K|ENST00000397439,p.E89K	protein_coding, nonsense_mediated_decay	uc010xnu.2	nonsynonymous SNV	exon6	c.G316A	p.E106K	SSAPPRPPRAAKETEKPPLPCKPRN	SSAPPRPPRAAKKTEKPPLPCKPRN	2.0	9.0	unscreened	-	1913_19:14705449-14705449 G>A_SSAPPRPPRAAKKTEKPPLPCKPRN
2:189917518-189917518 C>T	1.0	1913	MELANOMA	-	-	ID=COSM1669599;OCCURENCE=1(large_intestine)	-	COL5A2	ENST00000374866,p.G891D|NM_000393,p.G891D|uc010frx.3,p.G467D|uc002uqk.3,p.G891D	retained_intron, protein_coding	uc010frx.3	nonsynonymous SNV	exon24	c.G1400A	p.G467D	GLAGSPGPHGPNGVPGLKGGRGTQG	GLAGSPGPHGPNDVPGLKGGRGTQG	10.0	7.0	unscreened	-	1913_2:189917518-189917518 C>T_GLAGSPGPHGPNDVPGLKGGRGTQG
7:123594519-123594519 C>T	0.0	1913	MELANOMA	-	-	-	-	SPAM1	ENST00000340011,p.P299S|uc003vld.3,p.P299S|ENST00000223028,p.P299S|uc010lku.3,p.P299S|NM_001174045,p.P299S|uc003vlf.4,p.P299S|NM_001174044,p.P299S|ENST00000439500,p.P299S|ENST00000402183,p.P299S|NM_003117,p.P299S|NM_153189,p.P299S|uc022aks.1,p.P299S|uc003vle.3,p.P299S|ENST00000460182,p.P299S|NM_001174046,p.P299S	protein_coding	uc022aks.1	nonsynonymous SNV	exon3	c.C895T	p.P299S	RVSKIPDAKSPLPVFAYTRIVFTDQ	RVSKIPDAKSPLSVFAYTRIVFTDQ	1.0	4.0	unscreened	-	1913_7:123594519-123594519 C>T_RVSKIPDAKSPLSVFAYTRIVFTDQ
16:70902553-70902553 C>T	0.0	1913	MELANOMA	-	-	-	-	HYDIN	ENST00000393567,p.D3744N|uc031qwy.1,p.D3744N|NM_001270974,p.D3744N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon66	c.G11230A	p.D3744N	RIMFQLPADQVPDWDDRMHTVKWVD	RIMFQLPADQVPNWDDRMHTVKWVD	4.0	8.0	unscreened	-	1913_16:70902553-70902553 C>T_RIMFQLPADQVPNWDDRMHTVKWVD
7:123119944-123119944 C>T	0.0	1913	MELANOMA	-	-	-	-	IQUB	ENST00000484508,p.E439K|NM_001282855,p.E439K|uc003vkp.1,p.E439K|ENST00000466202,p.E439K|ENST00000324698,p.E439K|NM_178827,p.E439K|uc003vko.3,p.E439K|ENST00000434450,p.E439K|uc003vkn.3,p.E439K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vkp.1	nonsynonymous SNV	exon8	c.G1315A	p.E439K	GAERKAALCELLEKETQIIASIGRH	GAERKAALCELLKKETQIIASIGRH	2.0	5.0	unscreened	-	1913_7:123119944-123119944 C>T_GAERKAALCELLKKETQIIASIGRH
6:55406625-55406625 G>A	0.0	1913	MELANOMA	-	-	-	-	HMGCLL1	ENST00000308161,p.P67S|ENST00000370850,p.P67S|uc003pcn.3,p.P97S|NM_019036,p.P97S|NM_001042406,p.P67S|uc011dxd.2,p.P67S|ENST00000428842,p.P67S|ENST00000508459,p.P67S|uc003pcp.3,p.P67S|uc011dxe.2,p.P67S|ENST00000398661,p.P97S|uc011dxc.2,p.P67S|NM_001287741,p.P67S|ENST00000274901,p.P67S|NM_001287753,p.P67S|uc003pco.3,p.P67S	protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxe.2	nonsynonymous SNV	exon3	c.C199T	p.P67S	PRDGLQNEKVIVPTDIKIEFINRLS	PRDGLQNEKVIVSTDIKIEFINRLS	1.0	1.0	unscreened	-	1913_6:55406625-55406625 G>A_PRDGLQNEKVIVSTDIKIEFINRLS
X:27997713-27997713 G>A	0.0	1913	MELANOMA	-	-	-	-	DCAF8L1	NM_001017930,p.S580F|uc004dbx.1,p.S580F|ENST00000441525,p.S580F	protein_coding	uc004dbx.1	nonsynonymous SNV	exon1	c.C1739T	p.S580F	GAEFPDEEELDESSSTSDTSEEEGQ	GAEFPDEEELDEFSSTSDTSEEEGQ	1.0	9.0	unscreened	-	1913_X:27997713-27997713 G>A_GAEFPDEEELDEFSSTSDTSEEEGQ
X:2942184-2942184 G>A	0.0	1913	MELANOMA	-	-	-	-	ARSH	NM_001011719,p.G342R|ENST00000381130,p.G342R|uc011mhj.2,p.G342R	protein_coding	uc011mhj.2	nonsynonymous SNV	exon6	c.G1024A	p.G342R	PLDGAVQLGGWNGIYKGGKGMGGWE	PLDGAVQLGGWNRIYKGGKGMGGWE	1.0	9.0	unscreened	-	1913_X:2942184-2942184 G>A_PLDGAVQLGGWNRIYKGGKGMGGWE
X:151092881-151092881 C>A	0.0	1913	MELANOMA	-	-	-	-	MAGEA4	uc004ffa.3,p.Q249K|uc004fez.3,p.Q249K|NM_002362,p.Q249K|ENST00000370340,p.Q249K|ENST00000393921,p.Q249K|ENST00000370337,p.Q249K|ENST00000276344,p.Q249K|ENST00000370335,p.Q249K|NM_001011550,p.Q249K|uc022cgv.1,p.Q249K|uc022cgu.1,p.Q277K|ENST00000360243,p.Q249K|uc004ffc.3,p.Q249K|NM_001011548,p.Q249K|uc004ffd.3,p.Q249K|NM_001011549,p.Q249K|uc004ffb.3,p.Q249K|ENST00000393920,p.Q249K	protein_coding	uc022cgv.1	nonsynonymous SNV	exon1	c.C745A	p.Q249K	HTVYGEPRKLLTQDWVQENYLEYRQ	HTVYGEPRKLLTKDWVQENYLEYRQ	1.0	9.0	unscreened	-	1913_X:151092881-151092881 C>A_HTVYGEPRKLLTKDWVQENYLEYRQ
19:13335576-13335576 C>T	0.0	1913	MELANOMA	-	-	-	-	CACNA1A	uc010xne.2,p.R1882Q|uc010xnd.2,p.R1882Q|uc021ups.1,p.R1879Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ups.1	nonsynonymous SNV	exon38	c.G5636A	p.R1879Q	LGKKCPARVAYKRLLRMDLPVADDN	LGKKCPARVAYKQLLRMDLPVADDN	1.0	7.0	unscreened	-	1913_19:13335576-13335576 C>T_LGKKCPARVAYKQLLRMDLPVADDN
5:95748044-95748044 G>A	0.0	1913	MELANOMA	-	-	-	-	PCSK1	uc010jbi.2,p.A48V	protein_coding, processed_transcript	uc010jbi.2	nonsynonymous SNV	exon2	c.C143T	p.A48V	KTVEGPGRLAQKAFEYGVKQTSADL	KTVEGPGRLAQKVFEYGVKQTSADL	1.0	8.0	unscreened	-	1913_5:95748044-95748044 G>A_KTVEGPGRLAQKVFEYGVKQTSADL
7:126249552-126249552 C>T	0.0	1913	MELANOMA	-	-	-	-	GRM8	ENST00000405249,p.A477T|ENST00000341617,p.A477T	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000405249	nonsynonymous SNV	exon8	c.G1429A	p.A477T	PTLFTPSFSSSWAVLALLSLLMKTE	PTLFTPSFSSSWTVLALLSLLMKTE	3.0	8.0	unscreened	-	1913_7:126249552-126249552 C>T_PTLFTPSFSSSWTVLALLSLLMKTE
16:77398264-77398264 G>A	0.0	1913	MELANOMA	-	-	-	-	ADAMTS18	ENST00000449265,p.S266F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000449265	nonsynonymous SNV	exon5	c.C797T	p.S266F	CGRRKKCICSQASHRGHLSKV	CGRRKKCICSQAFHRGHLSKV	1.0	9.0	unscreened	-	1913_16:77398264-77398264 G>A_CGRRKKCICSQAFHRGHLSKV
5:140767861-140767861 C>T	0.0	1913	MELANOMA	-	-	-	-	PCDHGB4	uc003lkc.2,p.S137F|ENST00000519479,p.S137F|NM_003736,p.S137F|NM_032098,p.S137F	protein_coding	uc003lkc.2	nonsynonymous SNV	exon1	c.C410T	p.S137F	DINDHTPKFTQNSFELQISESAQPG	DINDHTPKFTQNFFELQISESAQPG	2.0	8.0	unscreened	-	1913_5:140767861-140767861 C>T_DINDHTPKFTQNFFELQISESAQPG
8:2813142-2813142 C>T	0.0	1913	MELANOMA	-	-	-	-	CSMD1	ENST00000537824,p.M3321I|ENST00000400186,p.M3145I|ENST00000602723,p.M3145I|uc010lrg.3,p.M1213I|NM_033225,p.M3321I|ENST00000602557,p.M3322I|uc022aqr.1,p.M3321I|ENST00000542608,p.M3144I|ENST00000520002,p.M3322I	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon64	c.G9963A	p.M3321I	AGGSEHRTCKADMKWTGKSPVCKSK	AGGSEHRTCKADIKWTGKSPVCKSK	1.0	6.0	unscreened	-	1913_8:2813142-2813142 C>T_AGGSEHRTCKADIKWTGKSPVCKSK
X:118243091-118243091 G>A	0.0	1913	MELANOMA	-	-	-	-	KIAA1210	uc004era.4,p.S242L|NM_020721,p.S242L|ENST00000402510,p.S242L	protein_coding	uc004era.4	nonsynonymous SNV	exon5	c.C725T	p.S242L	DSIFMLGPEPERSASKMFPSMDPQR	DSIFMLGPEPERLASKMFPSMDPQR	1.0	9.0	unscreened	-	1913_X:118243091-118243091 G>A_DSIFMLGPEPERLASKMFPSMDPQR
9:135862704-135862704 C>T	0.0	1913	MELANOMA	-	-	-	-	GFI1B	ENST00000372122,p.L46F|ENST00000339463,p.L46F|ENST00000450530,p.L46F|ENST00000372123,p.L46F|ENST00000372124,p.L46F|uc010mzy.3,p.L46F|ENST00000534944,p.L46F|NM_004188,p.L46F|NM_001135031,p.L46F|uc004ccg.3,p.L46F	protein_coding	uc010mzy.3	nonsynonymous SNV	exon3	c.C136T	p.L46F	VPRDQAPSNSPVLSTLFPNQCLDWT	VPRDQAPSNSPVFSTLFPNQCLDWT	1.0	1.0	unscreened	-	1913_9:135862704-135862704 C>T_VPRDQAPSNSPVFSTLFPNQCLDWT
6:132643979-132643979 G>A	0.0	1913	MELANOMA	-	-	-	-	MOXD1	uc003qdf.3,p.H382Y|ENST00000336749,p.H314Y|NM_015529,p.H382Y|uc003qde.3,p.H314Y|ENST00000367963,p.H382Y	protein_coding, processed_transcript	uc003qdf.3	nonsynonymous SNV	exon8	c.C1144T	p.H382Y	EEALEAEKPSGIHVFAVLLHAHLAG	EEALEAEKPSGIYVFAVLLHAHLAG	1.0	8.0	unscreened	-	1913_6:132643979-132643979 G>A_EEALEAEKPSGIYVFAVLLHAHLAG
7:11676031-11676031 C>T	0.0	1913	MELANOMA	-	-	-	-	THSD7A	NM_015204,p.E250K|ENST00000423059,p.E250K|uc021zzo.1,p.E250K|uc021zzn.1,p.E250K	retained_intron, protein_coding, processed_transcript	uc021zzo.1	nonsynonymous SNV	exon2	c.G748A	p.E250K	FQVCQSSPCEAEELRYSLHVGPWST	FQVCQSSPCEAEKLRYSLHVGPWST	1.0	6.0	unscreened	-	1913_7:11676031-11676031 C>T_FQVCQSSPCEAEKLRYSLHVGPWST
1:237777817-237777817 G>A	0.0	1913	MELANOMA	-	-	ID=COSM3804499,COSM3804500;OCCURENCE=1(breast)	-	RYR2	ENST00000360064,p.E1795K|ENST00000542537,p.E1781K|uc001hyl.1,p.E1797K|ENST00000366574,p.E1797K|NM_001035,p.E1797K	protein_coding, processed_transcript	uc001hyl.1	nonsynonymous SNV	exon37	c.G5389A	p.E1797K	DILKSKTIQMLTEAVKEGSLHARDP	DILKSKTIQMLTKAVKEGSLHARDP	1.0	2.0	unscreened	-	1913_1:237777817-237777817 G>A_DILKSKTIQMLTKAVKEGSLHARDP
6:167571243-167571243 C>T	0.0	1913	MELANOMA	-	-	-	-	GPR31	uc011egq.2,p.G26E|NM_005299,p.G26E|ENST00000366834,p.G26E	protein_coding	uc011egq.2	nonsynonymous SNV	exon1	c.G77A	p.G26E	ATAVGVLLGLECGLGLLGNAVALWT	ATAVGVLLGLECELGLLGNAVALWT	1.0	4.0	unscreened	-	1913_6:167571243-167571243 C>T_ATAVGVLLGLECELGLLGNAVALWT
3:44612493-44612493 G>A	0.0	1913	MELANOMA	-	-	-	-	ZKSCAN7	ENST00000273320,p.G631S|NM_001288590,p.G631S|uc010hin.3,p.G631S|NM_018651,p.G631S|ENST00000426540,p.G631S|uc003cnj.3,p.G631S	retained_intron, protein_coding, nonsense_mediated_decay	uc010hin.3	nonsynonymous SNV	exon6	c.G1891A	p.G631S	SKCLIRHQRLHTGEKPYKCNECGKS	SKCLIRHQRLHTSEKPYKCNECGKS	1.0	1.0	unscreened	-	1913_3:44612493-44612493 G>A_SKCLIRHQRLHTSEKPYKCNECGKS
6:26638599-26638599 A>C	1.0	1913	MELANOMA	-	-	-	-	ZNF322	uc021yoa.1,p.C61W|uc021yny.1,p.C61W|ENST00000471278,p.C61W|NM_001242799,p.C61W|NM_024639,p.C61W|NM_001242797,p.C61W|NM_001242798,p.C61W|uc003nil.4,p.C61W|ENST00000415922,p.C61W|uc021ynx.1,p.C61W|uc021ynz.1,p.C61W	protein_coding, processed_transcript	uc021yoa.1	nonsynonymous SNV	exon1	c.T183G	p.C61W	KQNFCENLALIMCERTHTGEKPYKC	KQNFCENLALIMWERTHTGEKPYKC	5.0	2.0	unscreened	-	1913_6:26638599-26638599 A>C_KQNFCENLALIMWERTHTGEKPYKC
17:37226111-37226111 C>T	0.0	1913	MELANOMA	-	-	ID=COSM560525;OCCURENCE=1(lung)	-	PLXDC1	ENST00000315392,p.E461K|uc002hrg.2,p.E461K|ENST00000444911,p.E421K|NM_020405,p.E461K|uc010cvr.1,p.E157K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cvr.1	nonsynonymous SNV	exon5	c.G469A	p.E157K	GHPTSNAALFFIERRPHHWPAMKFR	GHPTSNAALFFIKRRPHHWPAMKFR	3.0	6.0	unscreened	-	1913_17:37226111-37226111 C>T_GHPTSNAALFFIKRRPHHWPAMKFR
5:39311332-39311332 C>T	0.0	1913	MELANOMA	-	-	-	-	C9	NM_001737,p.E340K|uc003jlv.4,p.E340K|ENST00000263408,p.E340K	retained_intron, protein_coding, processed_transcript	uc003jlv.4	nonsynonymous SNV	exon7	c.G1018A	p.E340K	TTYEKGEYFAFLETYGTHYSSSGSL	TTYEKGEYFAFLKTYGTHYSSSGSL	1.0	1.0	unscreened	-	1913_5:39311332-39311332 C>T_TTYEKGEYFAFLKTYGTHYSSSGSL
3:122630904-122630904 G>A	0.0	1913	MELANOMA	-	-	-	-	SEMA5B	NM_001256348,p.P876L|NM_001256347,p.P1024L|ENST00000357599,p.P970L|ENST00000475244,p.P970L|uc031sbm.1,p.P1024L|NM_001256346,p.P970L|uc011bju.2,p.P876L|uc003egb.2,p.P970L|ENST00000393583,p.P970L|NM_001031702,p.P970L|ENST00000451055,p.P1024L|uc003efz.2,p.P970L	protein_coding, processed_transcript, nonsense_mediated_decay	uc031sbm.1	nonsynonymous SNV	exon20	c.C3071T	p.P1024L	LCATQACPEGWSPWSEWSKCTDDGA	LCATQACPEGWSLWSEWSKCTDDGA	1.0	5.0	unscreened	-	1913_3:122630904-122630904 G>A_LCATQACPEGWSLWSEWSKCTDDGA
6:84108230-84108230 A>C	0.0	1913	MELANOMA	-	-	-	-	ME1	ENST00000369705,p.L73R|uc003pjy.3,p.L73R|NM_002395,p.L73R	protein_coding	uc003pjy.3	nonsynonymous SNV	exon3	c.T218G	p.L73R	NFEHLNSDFDRYLLLMDLQDRNEKL	NFEHLNSDFDRYRLLMDLQDRNEKL	1.0	2.0	unscreened	-	1913_6:84108230-84108230 A>C_NFEHLNSDFDRYRLLMDLQDRNEKL
3:158983016-158983016 C>T	0.0	1913	MELANOMA	-	-	-	-	IQCJ	NM_001197100,p.P75S|ENST00000482126,p.P75S|ENST00000451172,p.P102S|NM_001042705,p.P102S|uc003fcp.2,p.P102S|uc010hvy.2,p.P75S	protein_coding, processed_transcript	uc010hvy.2	nonsynonymous SNV	exon4	c.C223T	p.P75S	TFSDSSTPFARAPVGKIHPYISWRL	TFSDSSTPFARASVGKIHPYISWRL	1.0	7.0	unscreened	-	1913_3:158983016-158983016 C>T_TFSDSSTPFARASVGKIHPYISWRL
X:78427457-78427457 C>T	0.0	1913	MELANOMA	-	-	-	-	GPR174	ENST00000276077,p.S318F|uc004edg.1,p.S318F|NM_032553,p.S318F	protein_coding	uc004edg.1	nonsynonymous SNV	exon1	c.C953T	p.S318F	QDLHDSIQLHAKSFVSNHTASTMTP	QDLHDSIQLHAKFFVSNHTASTMTP	1.0	9.0	unscreened	-	1913_X:78427457-78427457 C>T_QDLHDSIQLHAKFFVSNHTASTMTP
10:135165612-135165612 C>T	0.0	1913	MELANOMA	-	-	-	-	PRAP1	uc001lmr.2,p.P77L|ENST00000458230,p.P77L|NM_001145201,p.P77L	protein_coding, processed_transcript	uc001lmr.2	nonsynonymous SNV	exon4	c.C230T	p.P77L	VQKPKLLTTEEKPRGTKAWMETEDT	VQKPKLLTTEEKLRGTKAWMETEDT	8.0	4.0	unscreened	-	1913_10:135165612-135165612 C>T_VQKPKLLTTEEKLRGTKAWMETEDT
12:2774813-2774813 C>T	0.0	1913	MELANOMA	-	-	-	-	CACNA1C	ENST00000406454,p.L1489F|uc001qkk.2,p.L1489F|uc001qku.2,p.L1489F|NM_199460,p.L1537F|NM_001129840,p.L1489F|NM_001129829,p.L1511F|ENST00000399649,p.L1476F|ENST00000399638,p.L1517F|uc001qkc.2,p.L1489F|ENST00000399603,p.L1489F|ENST00000347598,p.L1537F|uc001qkr.2,p.L1506F|ENST00000399595,p.L1478F|uc001qkl.2,p.L1537F|uc009zdv.1,p.L1486F|NM_001129841,p.L1489F|uc001qkm.2,p.L1478F|NM_001129842,p.L1489F|NM_001129837,p.L1478F|NM_001129836,p.L1506F|NM_001129835,p.L1489F|uc001qkd.2,p.L1489F|NM_001129832,p.L1509F|ENST00000399644,p.L1489F|ENST00000399629,p.L1506F|uc009zdu.1,p.L1537F|uc001qkg.2,p.L1476F|NM_001129844,p.L1486F|uc001qkf.2,p.L1478F|ENST00000399637,p.L1489F|NM_001167625,p.L1478F|ENST00000399591,p.L1478F|ENST00000399597,p.L1489F|NM_001129834,p.L1489F|uc001qkh.2,p.L1478F|NM_001129833,p.L1489F|ENST00000399601,p.L1489F|NM_001167624,p.L1489F|NM_001167623,p.L1489F|uc010sea.1,p.L180F|ENST00000399617,p.L1489F|uc001qks.2,p.L1489F|ENST00000399621,p.L1489F|uc001qkn.2,p.L1489F|uc001qkj.2,p.L1489F|uc001qkq.2,p.L1517F|NM_001129843,p.L1489F|ENST00000344100,p.L1511F|ENST00000327702,p.L1489F|NM_001129831,p.L1517F|NM_001129827,p.L1537F|uc009zdw.1,p.L1511F|ENST00000399606,p.L1509F|NM_001129839,p.L1476F|ENST00000399641,p.L1489F|uc001qkp.2,p.L1489F|uc001qkb.2,p.L1489F|ENST00000399655,p.L1489F|uc001qko.2,p.L1509F|uc001qjz.2,p.L1489F|NM_000719,p.L1489F|ENST00000399634,p.L1489F|uc001qki.1,p.L1225F|NM_001129838,p.L1478F|uc001qke.2,p.L1478F|NM_001129830,p.L1489F|NM_001129846,p.L1478F|ENST00000335762,p.L1514F|uc001qkt.2,p.L1489F|ENST00000402845,p.L1489F	retained_intron, protein_coding, processed_transcript	uc010sea.1	nonsynonymous SNV	exon6	c.C538T	p.L180F	DNFDYLTRDWSILGPHHLDEFKRIW	DNFDYLTRDWSIFGPHHLDEFKRIW	1.0	8.0	unscreened	-	1913_12:2774813-2774813 C>T_DNFDYLTRDWSIFGPHHLDEFKRIW
10:115527213-115527213 G>A	0.0	1913	MELANOMA	-	-	-	-	PLEKHS1	uc001lat.2,p.E106K|NM_182601,p.E106K|ENST00000369310,p.E106K|NM_001193435,p.E24K|uc009xyc.2,p.E24K|uc001las.2,p.E24K|NM_001193434,p.E24K|uc001lar.2,p.E112K|NM_024889,p.E112K|ENST00000369312,p.E24K|ENST00000361048,p.E112K	protein_coding	uc009xyc.2	nonsynonymous SNV	exon5	c.G70A	p.E24K	PDEVMSIRTTNREYFLIGHDREKIK	PDEVMSIRTTNRKYFLIGHDREKIK	4.0	6.0	unscreened	-	1913_10:115527213-115527213 G>A_PDEVMSIRTTNRKYFLIGHDREKIK
16:29858594-29858594 T>A	1.0	1913	MELANOMA	-	-	-	-	MVP	NM_005115,p.V781E|ENST00000395353,p.V781E|uc010vea.2,p.V375E|NM_001293205,p.V715E|uc002duj.3,p.V781E|uc002dui.3,p.V781E|NM_017458,p.V781E|ENST00000357402,p.V781E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vea.2	nonsynonymous SNV	exon12	c.T1124A	p.V375E	ELVYARAQLELEVSKAQQLAEVEVK	ELVYARAQLELEESKAQQLAEVEVK	9.0	8.0	unscreened	-	1913_16:29858594-29858594 T>A_ELVYARAQLELEESKAQQLAEVEVK
1:53930407-53930407 T>G	0.0	1913	MELANOMA	-	-	-	-	DMRTB1	ENST00000371445,p.F283C|uc001cvq.1,p.F283C|NM_033067,p.F283C	protein_coding, processed_transcript	uc001cvq.1	nonsynonymous SNV	exon3	c.T848G	p.F283C	LPPLPPLPPQPQFLPPGYLSALHFL	LPPLPPLPPQPQCLPPGYLSALHFL	1.0	9.0	unscreened	-	1913_1:53930407-53930407 T>G_LPPLPPLPPQPQCLPPGYLSALHFL
12:70794016-70794016 G>A	1.0	1913	MELANOMA	-	-	-	-	KCNMB4	ENST00000258111,p.E122K|NM_014505,p.E122K|uc001svx.3,p.E122K	protein_coding, nonsense_mediated_decay	uc001svx.3	nonsynonymous SNV	exon2	c.G364A	p.E122K	NPKCSYIPPCKRENQKNLESVMNWQ	NPKCSYIPPCKRKNQKNLESVMNWQ	4.0	9.0	unscreened	-	1913_12:70794016-70794016 G>A_NPKCSYIPPCKRKNQKNLESVMNWQ
19:38976621-38976621 C>T	0.0	1913	MELANOMA	-	-	-	-	RYR1	uc002oiu.3,p.H1776Y|ENST00000360985,p.H1776Y|uc002oit.3,p.H1776Y|ENST00000359596,p.H1776Y|ENST00000355481,p.H1776Y|NM_001042723,p.H1776Y|NM_000540,p.H1776Y	retained_intron, protein_coding, nonsense_mediated_decay	uc002oiu.3	nonsynonymous SNV	exon34	c.C5326T	p.H1776Y	GVGVTTSLRPPHHFSPPCFVAALPA	GVGVTTSLRPPHYFSPPCFVAALPA	1.0	5.0	unscreened	-	1913_19:38976621-38976621 C>T_GVGVTTSLRPPHYFSPPCFVAALPA
X:37028207-37028207 C>T	0.0	1913	MELANOMA	-	-	-	2	FAM47C	NM_001013736,p.P575L|ENST00000358047,p.P575L|uc004ddl.2,p.P575L	protein_coding	uc004ddl.2	nonsynonymous SNV	exon1	c.C1724T	p.P575L	PKTRMYSLRPEPPDTGVSHLCPEPP	PKTRMYSLRPEPLDTGVSHLCPEPP	1.0	9.0	unscreened	-	1913_X:37028207-37028207 C>T_PKTRMYSLRPEPLDTGVSHLCPEPP
3:1415682-1415682 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1039265;OCCURENCE=1(endometrium)	-	CNTN6	NM_001289081,p.R602C|uc011asj.2,p.R602C|uc003boz.3,p.R674C|ENST00000539053,p.R602C|ENST00000350110,p.R674C|uc003bpa.3,p.R674C|NM_014461,p.R674C|NM_001289080,p.R674C|ENST00000446702,p.R674C	retained_intron, protein_coding, nonsense_mediated_decay	uc011asj.2	nonsynonymous SNV	exon15	c.C1804T	p.R602C	VVGLSPWVEYEFRVVAGNSIGIGEP	VVGLSPWVEYEFCVVAGNSIGIGEP	1.0	1.0	unscreened	-	1913_3:1415682-1415682 C>T_VVGLSPWVEYEFCVVAGNSIGIGEP
3:121350827-121350827 C>T	0.0	1913	MELANOMA	-	-	-	-	HCLS1	NM_001292041,p.G406R|NM_005335,p.G443R|uc003eeh.4,p.G443R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003eeh.4	nonsynonymous SNV	exon14	c.G1327A	p.G443R	ISAVALYDYQGEGSDELSFDPDDVI	ISAVALYDYQGERSDELSFDPDDVI	5.0	8.0	unscreened	-	1913_3:121350827-121350827 C>T_ISAVALYDYQGERSDELSFDPDDVI
9:140946593-140946593 C>T	0.0	1913	MELANOMA	-	-	-	-	CACNA1B	NM_000718,p.R1254C|ENST00000277551,p.R1254C|uc022bqn.1,p.R1254C|uc004coi.3,p.R468C|ENST00000371372,p.R1254C|ENST00000371363,p.R1254C|ENST00000371357,p.R1255C|NM_001243812,p.R1254C|ENST00000371355,p.R1255C|ENST00000277549,p.R450C|uc004cog.3,p.R1254C|uc011mfd.2,p.R855C|uc031tfy.1,p.R1254C|uc031tfz.1,p.R1254C	protein_coding	uc031tfz.1	nonsynonymous SNV	exon25	c.C3760T	p.R1254C	KDINTIKSLRVLRVLRPLKTIKRLP	KDINTIKSLRVLCVLRPLKTIKRLP	1.0	3.0	unscreened	-	1913_9:140946593-140946593 C>T_KDINTIKSLRVLCVLRPLKTIKRLP
7:100678874-100678874 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1699061;OCCURENCE=1(skin)	-	MUC17	uc003uxp.1,p.E1393K|ENST00000306151,p.E1393K|ENST00000379439,p.E1393K|NM_001040105,p.E1393K	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.G4177A	p.E1393K	SEGTSMPNSNPSEGTTPLTSIPVST	SEGTSMPNSNPSKGTTPLTSIPVST	1.0	4.0	unscreened	-	1913_7:100678874-100678874 G>A_SEGTSMPNSNPSKGTTPLTSIPVST
1:118624248-118624248 C>T	0.0	1913	MELANOMA	-	-	-	-	SPAG17	NM_206996,p.E594K|ENST00000336338,p.E594K|uc001ehk.2,p.E594K	protein_coding, processed_transcript	uc001ehk.2	nonsynonymous SNV	exon14	c.G1780A	p.E594K	MHFCTSDVLSWNEVERAFKVFTFES	MHFCTSDVLSWNKVERAFKVFTFES	1.0	9.0	unscreened	-	1913_1:118624248-118624248 C>T_MHFCTSDVLSWNKVERAFKVFTFES
1:242253389-242253389 C>T	0.0	1913	MELANOMA	-	-	-	-	PLD5	ENST00000427495,p.D398N|NM_152666,p.D460N|NM_001195811,p.D398N|NM_001195812,p.D252N|ENST00000442594,p.D368N|ENST00000536534,p.D460N|uc001hzm.4,p.D252N|uc001hzo.2,p.D368N|uc001hzn.2,p.D460N|uc001hzl.4,p.D398N	protein_coding, processed_transcript, nonsense_mediated_decay	uc001hzo.2	nonsynonymous SNV	exon11	c.G1102A	p.D368N	AAYIGNFDWVGNDFTQNAGTGLVIN	AAYIGNFDWVGNNFTQNAGTGLVIN	1.0	4.0	unscreened	-	1913_1:242253389-242253389 C>T_AAYIGNFDWVGNNFTQNAGTGLVIN
5:145176091-145176091 C>T	1.0	1913	MELANOMA	-	-	-	-	PRELID2	NM_205846,p.G130S|uc003lnp.1,p.G142S|uc003lnq.1,p.G130S|NM_138492,p.G101S|ENST00000511435,p.G130S|ENST00000334744,p.G142S|uc003lno.1,p.G101S|ENST00000505416,p.G130S|NM_182960,p.G142S|ENST00000358004,p.G130S|uc003lnr.1,p.G130S|ENST00000394450,p.G101S	retained_intron, protein_coding, processed_transcript	uc003lnr.1	nonsynonymous SNV	exon5	c.G388A	p.G130S	MENPNWTEFIQRGRISITGVGFLNC	MENPNWTEFIQRSRISITGVGFLNC	6.0	2.0	unscreened	-	1913_5:145176091-145176091 C>T_MENPNWTEFIQRSRISITGVGFLNC
12:57406641-57406641 A>C	0.0	1913	MELANOMA	-	-	-	-	TAC3	ENST00000438756,p.F86C|ENST00000357616,p.F86C|ENST00000393867,p.F86C	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000438756	nonsynonymous SNV	exon5	c.T257G	p.F86C	STSPEKRDMHDFFVGLMGKRSVQPE	STSPEKRDMHDFCVGLMGKRSVQPE	3.0	9.0	unscreened	-	1913_12:57406641-57406641 A>C_STSPEKRDMHDFCVGLMGKRSVQPE
12:57406641-57406641 A>C	0.0	1913	MELANOMA	-	-	-	-	TAC3	NM_013251,p.F86C|ENST00000458521,p.F86C|uc001smp.3,p.F86C|ENST00000300108,p.F86C|ENST00000415231,p.F86C	retained_intron, protein_coding, nonsense_mediated_decay	uc001smp.3	nonsynonymous SNV	exon5	c.T257G	p.F86C	STSPEKRDMHDFFVGLMGKRSVQPD	STSPEKRDMHDFCVGLMGKRSVQPD	3.0	9.0	unscreened	-	1913_12:57406641-57406641 A>C_STSPEKRDMHDFCVGLMGKRSVQPD
18:28968423-28968423 C>T	0.0	1913	MELANOMA	-	-	-	-	DSG4	ENST00000308128,p.P104S|uc002kwr.2,p.P104S|ENST00000359747,p.P104S|NM_001134453,p.P104S|NM_177986,p.P104S|uc002kwq.2,p.P104S	protein_coding	uc002kwr.2	nonsynonymous SNV	exon4	c.C310T	p.P104S	IDRPPYGVFTINPRTGEINITSVVD	IDRPPYGVFTINSRTGEINITSVVD	1.0	9.0	unscreened	-	1913_18:28968423-28968423 C>T_IDRPPYGVFTINSRTGEINITSVVD
1:153653085-153653085 G>A	0.0	1913	MELANOMA	-	-	-	-	NPR1	uc010pdz.2,p.G23E|ENST00000368680,p.G277E|uc001fcs.4,p.G277E|NM_000906,p.G277E	protein_coding	uc010pdz.2	nonsynonymous SNV	exon1	c.G68A	p.G23E	GEDYVFFHLDIFGQSLQGGQGPAPR	GEDYVFFHLDIFEQSLQGGQGPAPR	1.0	3.0	unscreened	-	1913_1:153653085-153653085 G>A_GEDYVFFHLDIFEQSLQGGQGPAPR
12:121434578-121434578 G>A	0.0	1913	MELANOMA	-	-	-	1	HNF1A	uc001tze.2,p.G448R|ENST00000402929,p.G448R|ENST00000543427,p.G331R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001tze.2	nonsynonymous SNV	exon6	c.G1342A	p.G448R	IGKLVGMGGHLGGRLMGQPQNPGAG	IGKLVGMGGHLGRRLMGQPQNPGAG	5.0	3.0	unscreened	-	1913_12:121434578-121434578 G>A_IGKLVGMGGHLGRRLMGQPQNPGAG
3:64085539-64085539 G>A	1.0	1913	MELANOMA	-	-	-	-	PRICKLE2	ENST00000564377,p.L631F|NM_198859,p.L575F|uc003dmf.3,p.L575F|ENST00000295902,p.L575F	protein_coding	uc003dmf.3	nonsynonymous SNV	exon8	c.C1723T	p.L575F	RQEHLSRFSMPDLSKDSGMNVSEKL	RQEHLSRFSMPDFSKDSGMNVSEKL	3.0	1.0	unscreened	-	1913_3:64085539-64085539 G>A_RQEHLSRFSMPDFSKDSGMNVSEKL
1:209880462-209880462 C>T	0.0	1913	MELANOMA	-	-	-	-	HSD11B1	NM_181755,p.S169F|ENST00000261465,p.S169F|NM_001206741,p.S169F|uc001hhk.3,p.S169F|ENST00000367027,p.S169F|NM_005525,p.S169F|uc001hhj.3,p.S169F|uc021pin.1,p.S169F|ENST00000367028,p.S169F	protein_coding	uc021pin.1	nonsynonymous SNV	exon5	c.C506T	p.S169F	MLKQSNGSIVVVSSLAGKVAYPMVA	MLKQSNGSIVVVFSLAGKVAYPMVA	1.0	6.0	unscreened	-	1913_1:209880462-209880462 C>T_MLKQSNGSIVVVFSLAGKVAYPMVA
2:179664578-179664578 C>T	0.0	1913	MELANOMA	-	-	-	-	TTN	NM_133432,p.E215K|ENST00000589042,p.E215K|uc031rqd.1,p.E215K|uc002unb.3,p.E215K|ENST00000460472,p.E215K|uc031rqc.1,p.E215K|ENST00000342175,p.E215K|uc021vsz.2,p.E215K|NM_133378,p.E215K|uc021vsy.2,p.E215K|NM_001256850,p.E215K|ENST00000360870,p.E215K|uc021vtb.2,p.E215K|NM_003319,p.E215K|uc002und.3,p.E215K|ENST00000591111,p.E215K|NM_001267550,p.E215K|uc021vta.2,p.E215K|ENST00000359218,p.E215K|NM_133437,p.E215K|NM_133379,p.E215K|ENST00000342992,p.E215K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon5	c.G643A	p.E215K	KTKTIVSTAQISESRQTRIEKKIEA	KTKTIVSTAQISKSRQTRIEKKIEA	2.0	6.0	unscreened	-	1913_2:179664578-179664578 C>T_KTKTIVSTAQISKSRQTRIEKKIEA
3:96945212-96945212 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1149805,COSM731394,COSM731393;OCCURENCE=1(lung)	-	EPHA6	uc003drp.1,p.E407K|ENST00000389672,p.E407K|NM_001080448,p.E407K|ENST00000470610,p.E407K|uc010how.1,p.E407K	protein_coding, nonsense_mediated_decay	uc010how.1	nonsynonymous SNV	exon4	c.G1219A	p.E407K	LTYMEATSVCQCEKGYFRAEKDPPS	LTYMEATSVCQCKKGYFRAEKDPPS	1.0	2.0	unscreened	-	1913_3:96945212-96945212 G>A_LTYMEATSVCQCKKGYFRAEKDPPS
19:35800792-35800792 T>C	0.0	1913	MELANOMA	-	-	-	-	MAG	uc002nyx.2,p.L416P|ENST00000392213,p.L416P|ENST00000361922,p.L416P|uc002nyz.2,p.L416P|NM_002361,p.L416P|uc002nyy.2,p.L416P|NM_080600,p.L416P|uc010eds.2,p.L391P|NM_001199216,p.L391P|ENST00000537831,p.L391P	retained_intron, protein_coding, processed_transcript	uc010eds.2	nonsynonymous SNV	exon8	c.T1172C	p.L391P	AFNLSVEFAPVLLLESHCAAARDTV	AFNLSVEFAPVLPLESHCAAARDTV	2.0	7.0	unscreened	-	1913_19:35800792-35800792 T>C_AFNLSVEFAPVLPLESHCAAARDTV
2:103068530-103068530 C>G	0.0	1913	MELANOMA	-	-	-	-	IL18RAP	uc010fiz.3,p.N421K|ENST00000264260,p.N563K|uc002tbx.3,p.N563K|NM_003853,p.N563K|ENST00000409369,p.N421K	retained_intron, protein_coding	uc010fiz.3	nonsynonymous SNV	exon10	c.C1263G	p.N421K	FWAKMRYHMPVKNSQGFTWNQLRIT	FWAKMRYHMPVKKSQGFTWNQLRIT	4.0	4.0	unscreened	-	1913_2:103068530-103068530 C>G_FWAKMRYHMPVKKSQGFTWNQLRIT
5:41153953-41153953 G>A	0.0	1913	MELANOMA	-	-	-	-	C6	NM_000065,p.S750F|uc003jmk.3,p.S750F|NM_001115131,p.S750F|uc003jml.2,p.S750F|ENST00000337836,p.S750F|ENST00000263413,p.S750F	retained_intron, protein_coding, processed_transcript	uc003jml.2	nonsynonymous SNV	exon15	c.C2249T	p.S750F	VAGPSRYTCQGNSWTPPISNSLTCE	VAGPSRYTCQGNFWTPPISNSLTCE	1.0	1.0	unscreened	-	1913_5:41153953-41153953 G>A_VAGPSRYTCQGNFWTPPISNSLTCE
8:101196868-101196868 A>G	0.0	1913	MELANOMA	-	-	-	-	SPAG1	uc003yjg.1,p.K203R|NM_003114,p.K203R|uc003yji.2,p.K203R|NM_172218,p.K203R|uc003yjh.2,p.K203R|ENST00000251809,p.K203R|ENST00000520643,p.K203R|ENST00000388798,p.K203R|ENST00000520508,p.K203R	retained_intron, protein_coding, processed_transcript	uc003yji.2	nonsynonymous SNV	exon7	c.A608G	p.K203R	IETRIDTAGLTEKEKDFLATREKEK	IETRIDTAGLTEREKDFLATREKEK	7.0	5.0	unscreened	-	1913_8:101196868-101196868 A>G_IETRIDTAGLTEREKDFLATREKEK
11:105623751-105623751 T>C	0.0	1913	MELANOMA	-	-	-	-	GRIA4	uc001piu.1,p.Y98H|ENST00000393125,p.Y98H|NM_001077243,p.Y98H|ENST00000530497,p.Y98H|ENST00000531011,p.Y98H|uc001piv.3,p.Y98H|uc009yxk.1,p.Y98H|uc001pix.2,p.Y98H|uc001piw.2,p.Y98H|NM_001077244,p.Y98H|NM_000829,p.Y98H|ENST00000428631,p.Y98H|NM_001112812,p.Y98H|ENST00000393127,p.Y98H|ENST00000282499,p.Y98H|ENST00000525187,p.Y98H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009yxk.1	nonsynonymous SNV	exon3	c.T292C	p.Y98H	QYSRGVFAIFGLYDKRSVHTLTSFC	QYSRGVFAIFGLHDKRSVHTLTSFC	1.0	7.0	unscreened	-	1913_11:105623751-105623751 T>C_QYSRGVFAIFGLHDKRSVHTLTSFC
13:25349022-25349022 G>A	0.0	1913	MELANOMA	-	-	-	-	RNF17	uc001upq.1,p.M99I|uc010tde.2,p.M99I|ENST00000255324,p.M99I|ENST00000255325,p.M99I|NM_001184993,p.M99I|uc001ups.3,p.M38I|NM_031277,p.M99I|ENST00000381921,p.M99I|uc001upr.3,p.M99I	protein_coding, processed_transcript	uc010tde.2	nonsynonymous SNV	exon3	c.G297A	p.M99I	YPMAGYIKEDSIMEKLQPKTIKNCS	YPMAGYIKEDSIIEKLQPKTIKNCS	1.0	9.0	unscreened	-	1913_13:25349022-25349022 G>A_YPMAGYIKEDSIIEKLQPKTIKNCS
4:169142908-169142908 G>A	0.0	1913	MELANOMA	-	-	-	-	DDX60	ENST00000393743,p.S1650F|NM_017631,p.S1650F|uc003irp.3,p.S1650F|uc003iro.3,p.S121F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003irp.3	nonsynonymous SNV	exon36	c.C4949T	p.S1650F	LNAYALDFYKHGSLIGLVQDNRMNE	LNAYALDFYKHGFLIGLVQDNRMNE	3.0	9.0	unscreened	-	1913_4:169142908-169142908 G>A_LNAYALDFYKHGFLIGLVQDNRMNE
11:121058693-121058693 C>T	0.0	1913	MELANOMA	-	-	-	-	TECTA	uc010rzo.2,p.S2051F|ENST00000392793,p.S2051F|ENST00000264037,p.S2051F|NM_005422,p.S2051F	protein_coding, processed_transcript	uc010rzo.2	nonsynonymous SNV	exon20	c.C6152T	p.S2051F	HCAVSLCDSEKYSCKITCPHNSRIA	HCAVSLCDSEKYFCKITCPHNSRIA	2.0	9.0	unscreened	-	1913_11:121058693-121058693 C>T_HCAVSLCDSEKYFCKITCPHNSRIA
1:245849350-245849350 C>T	1.0	1913	MELANOMA	-	-	-	-	KIF26B	uc001ibh.1,p.P264L|ENST00000366518,p.P641L|ENST00000407071,p.P1022L|uc001ibg.1,p.P640L|uc001ibf.1,p.P1022L|NM_018012,p.P1022L	retained_intron, protein_coding, processed_transcript	uc001ibh.1	nonsynonymous SNV	exon3	c.C791T	p.P264L	AAAPAHSPSPASPRSVPGSSSQHSA	AAAPAHSPSPASLRSVPGSSSQHSA	4.0	9.0	unscreened	-	1913_1:245849350-245849350 C>T_AAAPAHSPSPASLRSVPGSSSQHSA
5:95748044-95748044 G>A	0.0	1913	MELANOMA	-	-	-	-	PCSK1	uc003kls.2,p.A287V|ENST00000311106,p.A287V|NM_000439,p.A287V|ENST00000508626,p.A240V|uc021ybq.1,p.A240V|NM_001177875,p.A240V	protein_coding, processed_transcript	uc021ybq.1	nonsynonymous SNV	exon7	c.C719T	p.A240V	KTVEGPGRLAQKAFEYGVKQGRQGK	KTVEGPGRLAQKVFEYGVKQGRQGK	1.0	8.0	unscreened	-	1913_5:95748044-95748044 G>A_KTVEGPGRLAQKVFEYGVKQGRQGK
2:234621933-234621933 C>T	0.0	1913	MELANOMA	-	-	-	-	UGT1A5	NM_019078,p.S99L|ENST00000373414,p.S99L|uc002vuw.3,p.S99L|uc010zmz.1,p.S99L	protein_coding	uc010zmz.1	nonsynonymous SNV	exon1	c.C296T	p.S99L	DEFDRLLLGHTQSFFETEHLLMKFS	DEFDRLLLGHTQLFFETEHLLMKFS	1.0	6.0	unscreened	-	1913_2:234621933-234621933 C>T_DEFDRLLLGHTQLFFETEHLLMKFS
19:22847037-22847037 G>T	0.0	1913	MELANOMA	-	-	ID=COSM994014;OCCURENCE=2(endometrium),1(large_intestine)	-	ZNF492	ENST00000456783,p.R189I|uc002nqw.3,p.R189I|NM_020855,p.R189I	protein_coding	uc002nqw.3	nonsynonymous SNV	exon4	c.G566T	p.R189I	AYNETSNLSTHKRIHTGKKPYKCEE	AYNETSNLSTHKIIHTGKKPYKCEE	3.0	1.0	unscreened	-	1913_19:22847037-22847037 G>T_AYNETSNLSTHKIIHTGKKPYKCEE
5:126755864-126755864 G>A	0.0	1913	MELANOMA	-	-	-	-	MEGF10	ENST00000418761,p.G519R|uc010jdc.1,p.G519R|NM_001256545,p.G519R|ENST00000274473,p.G519R|ENST00000503335,p.G519R|uc003kuh.4,p.G519R|uc010jdd.1,p.G519R|uc003kui.4,p.G519R|ENST00000508365,p.G519R|NM_032446,p.G519R	retained_intron, protein_coding, processed_transcript	uc010jdd.1	nonsynonymous SNV	exon12	c.G1555A	p.G519R	CNTLDGTCTCAPGWRGEKCELPCQD	CNTLDGTCTCAPRWRGEKCELPCQD	1.0	8.0	unscreened	-	1913_5:126755864-126755864 G>A_CNTLDGTCTCAPRWRGEKCELPCQD
19:14817564-14817564 C>T	1.0	1913	MELANOMA	-	-	-	-	ZNF333	ENST00000598161,p.P164S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000598161	nonsynonymous SNV	exon6	c.C490T	p.P164S	VVIPVPTLGHRNPWVARDSGQKEDA	VVIPVPTLGHRNSWVARDSGQKEDA	7.0	8.0	unscreened	-	1913_19:14817564-14817564 C>T_VVIPVPTLGHRNSWVARDSGQKEDA
8:16035422-16035422 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1215601,COSM1215602;OCCURENCE=1(large_intestine)	-	MSR1	ENST00000519060,p.R26C	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000519060	nonsynonymous SNV	exon2	c.C76T	p.R26C	TDSCSESVKFDARSMTALLPPRNQ	TDSCSESVKFDACSMTALLPPRNQ	1.0	5.0	unscreened	-	1913_8:16035422-16035422 G>A_TDSCSESVKFDACSMTALLPPRNQ
1:198719681-198719681 G>A	0.0	1913	MELANOMA	-	-	-	1	PTPRC	ENST00000594404,p.D882N|ENST00000442510,p.D1045N|ENST00000367376,p.D1043N|NM_080921,p.D884N|uc001gur.2,p.D1045N|uc001gut.2,p.D884N|NM_002838,p.D1045N|ENST00000348564,p.D884N|ENST00000352140,p.D995N	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc001gut.2	nonsynonymous SNV	exon26	c.G2650A	p.D884N	IAAQGPLKETIGDFWQMIFQRKVKV	IAAQGPLKETIGNFWQMIFQRKVKV	4.0	7.0	unscreened	-	1913_1:198719681-198719681 G>A_IAAQGPLKETIGNFWQMIFQRKVKV
1:167096418-167096418 C>T	0.0	1913	MELANOMA	-	-	-	-	DUSP27	ENST00000361200,p.H684Y|NM_001080426,p.H684Y|uc001geb.1,p.H684Y|ENST00000443333,p.H684Y|ENST00000271385,p.H684Y	protein_coding, processed_transcript	uc001geb.1	nonsynonymous SNV	exon5	c.C2050T	p.H684Y	DGDTTSVLSTQSHRSHLSQAASNIA	DGDTTSVLSTQSYRSHLSQAASNIA	1.0	9.0	unscreened	-	1913_1:167096418-167096418 C>T_DGDTTSVLSTQSYRSHLSQAASNIA
15:34551114-34551114 G>A	0.0	1913	MELANOMA	-	-	-	-	SLC12A6	uc010bau.3,p.S148F|ENST00000560611,p.S148F|ENST00000559523,p.S89F|NM_005135,p.S97F|ENST00000558667,p.S148F|uc001zib.3,p.S139F|uc001zic.3,p.S148F|ENST00000561120,p.S139F|ENST00000561080,p.S148F|uc001zhw.3,p.S148F|ENST00000458406,p.S89F|uc001zia.3,p.S89F|ENST00000354181,p.S148F|NM_001042497,p.S133F|uc001zhx.3,p.S133F|ENST00000559664,p.S148F|NM_001042495,p.S89F|ENST00000558589,p.S139F|NM_001042494,p.S89F|ENST00000397702,p.S89F|NM_133647,p.S148F|NM_001042496,p.S139F|ENST00000397707,p.S133F|uc001zhv.3,p.S97F|uc001zid.3,p.S89F|ENST00000290209,p.S97F	retained_intron, protein_coding, nonsense_mediated_decay	uc010bau.3	nonsynonymous SNV	exon5	c.C443T	p.S148F	FEEEMDTRPKVSSLLNRMANYTNLT	FEEEMDTRPKVSFLLNRMANYTNLT	5.0	7.0	unscreened	-	1913_15:34551114-34551114 G>A_FEEEMDTRPKVSFLLNRMANYTNLT
3:38798333-38798333 C>T	0.0	1913	MELANOMA	-	-	-	-	SCN10A	NM_001293306,p.M374I|ENST00000449082,p.M374I|NM_006514,p.M374I|NM_001293307,p.M374I|uc003ciq.3,p.M374I	protein_coding	uc003ciq.3	nonsynonymous SNV	exon9	c.G1122A	p.M374I	YQQTLRTSGKIYMIFFVLVIFLGSF	YQQTLRTSGKIYIIFFVLVIFLGSF	1.0	9.0	unscreened	-	1913_3:38798333-38798333 C>T_YQQTLRTSGKIYIIFFVLVIFLGSF
19:51563744-51563744 C>T	0.0	1913	MELANOMA	-	-	-	-	KLK13	uc010eon.3,p.G62E|uc002pvr.3,p.G62E|NM_015596,p.G62E|uc002pvn.3,p.G62E	protein_coding, nonsense_mediated_decay	uc010eon.3	nonsynonymous SNV	exon2	c.G185A	p.G62E	QAALLVQGRLLCGGVLVHPKWVLTA	QAALLVQGRLLCEGVLVHPKWVLTA	1.0	6.0	unscreened	-	1913_19:51563744-51563744 C>T_QAALLVQGRLLCEGVLVHPKWVLTA
6:4037729-4037729 C>T	1.0	1913	MELANOMA	-	-	-	-	PRPF4B	ENST00000481109,p.P26L|NM_003913,p.P446L|ENST00000337659,p.P446L|ENST00000538861,p.P432L|uc003mvv.3,p.P446L|ENST00000480058,p.P446L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003mvv.3	nonsynonymous SNV	exon3	c.C1337T	p.P446L	NRWSPTRRRSRSPIRRRSRSPLRRS	NRWSPTRRRSRSLIRRRSRSPLRRS	8.0	4.0	unscreened	-	1913_6:4037729-4037729 C>T_NRWSPTRRRSRSLIRRRSRSPLRRS
8:143602191-143602191 C>T	1.0	1913	MELANOMA	-	-	-	-	BAI1	ENST00000517894,p.R977C|uc003ywm.3,p.R977C|ENST00000323289,p.R977C|NM_001702,p.R977C|ENST00000521208,p.R977C	retained_intron, protein_coding, nonsense_mediated_decay	uc003ywm.3	nonsynonymous SNV	exon19	c.C2929T	p.R977C	LVIIYVSVWRYIRSERSVILINFCL	LVIIYVSVWRYICSERSVILINFCL	4.0	7.0	unscreened	-	1913_8:143602191-143602191 C>T_LVIIYVSVWRYICSERSVILINFCL
5:179201679-179201679 G>A	1.0	1913	MELANOMA	-	-	-	-	MAML1	NM_014757,p.G951D|ENST00000292599,p.G951D|uc003mkm.3,p.G951D	retained_intron, protein_coding, processed_transcript	uc003mkm.3	nonsynonymous SNV	exon5	c.G2852A	p.G951D	GAFSQSPASQMGGRAGLHCTQAYPV	GAFSQSPASQMGDRAGLHCTQAYPV	8.0	9.0	unscreened	-	1913_5:179201679-179201679 G>A_GAFSQSPASQMGDRAGLHCTQAYPV
4:189068173-189068173 G>A	0.0	1913	MELANOMA	-	-	-	-	TRIML1	NM_178556,p.E352K|uc003izn.1,p.E76K|ENST00000332517,p.E352K|uc003izm.1,p.E352K	protein_coding, processed_transcript	uc003izn.1	nonsynonymous SNV	exon3	c.G226A	p.E76K	RHYWEVEVGNKTEWEVGICKDSVSR	RHYWEVEVGNKTKWEVGICKDSVSR	1.0	9.0	unscreened	-	1913_4:189068173-189068173 G>A_RHYWEVEVGNKTKWEVGICKDSVSR
1:160769833-160769833 G>A	0.0	1913	MELANOMA	-	-	-	-	LY9	uc001fwy.1,p.E41K|uc001fww.4,p.E139K|uc001fwv.4,p.E139K|uc001fwu.4,p.E139K|NM_002348,p.E139K|NM_001261457,p.E139K|ENST00000368039,p.E139K|ENST00000341032,p.E139K|NM_001261456,p.E139K|ENST00000368041,p.E99K|ENST00000368037,p.E108K|uc010pjs.2,p.E139K|uc001fwt.4,p.E139K|NM_001033667,p.E139K|ENST00000263285,p.E139K	retained_intron, protein_coding, processed_transcript	uc010pjs.2	nonsynonymous SNV	exon2	c.G415A	p.E139K	GSYKAQINQRNFEVTTEEEFTLFVY	GSYKAQINQRNFKVTTEEEFTLFVY	1.0	1.0	unscreened	-	1913_1:160769833-160769833 G>A_GSYKAQINQRNFKVTTEEEFTLFVY
2:179611576-179611576 G>A	0.0	1913	MELANOMA	-	-	-	-	TTN	uc002unb.3,p.S5184F|NM_133379,p.S5184F|ENST00000360870,p.S5184F	retained_intron, protein_coding	uc002unb.3	nonsynonymous SNV	exon46	c.C15551T	p.S5184F	EAIEPKDNEMPPSFIEPLTKRKVYE	EAIEPKDNEMPPFFIEPLTKRKVYE	2.0	4.0	unscreened	-	1913_2:179611576-179611576 G>A_EAIEPKDNEMPPFFIEPLTKRKVYE
11:57982884-57982884 C>A	0.0	1913	MELANOMA	-	-	-	-	OR1S1	ENST00000309433,p.P223H|NM_001004458,p.P223H|uc010rkc.2,p.P223H	protein_coding	uc010rkc.2	nonsynonymous SNV	exon1	c.C668A	p.P223H	VLFIVGLSVIIFPFTLSFFSYVCII	VLFIVGLSVIIFHFTLSFFSYVCII	1.0	6.0	unscreened	-	1913_11:57982884-57982884 C>A_VLFIVGLSVIIFHFTLSFFSYVCII
1:117307202-117307202 G>A	0.0	1913	MELANOMA	-	-	-	-	CD2	uc010owz.1,p.R237K	protein_coding	uc010owz.1	nonsynonymous SNV	exon4	c.G710A	p.R237K	VFVALLVFYITKRKKQRSRRNGKLP	VFVALLVFYITKKKKQRSRRNGKLP	2.0	9.0	unscreened	-	1913_1:117307202-117307202 G>A_VFVALLVFYITKKKKQRSRRNGKLP
7:4949545-4949545 C>T	0.0	1913	MELANOMA	-	-	-	-	MMD2	ENST00000404774,p.M192I|ENST00000401401,p.M168I|NM_001100600,p.M192I|uc003sno.4,p.M192I|NM_198403,p.M168I|uc003snn.4,p.M168I	protein_coding	uc003sno.4	nonsynonymous SNV	exon6	c.G576A	p.M192I	RYKLVELLCYVVMGFFPALVILSMP	RYKLVELLCYVVIGFFPALVILSMP	1.0	6.0	unscreened	-	1913_7:4949545-4949545 C>T_RYKLVELLCYVVIGFFPALVILSMP
19:22941356-22941356 G>A	0.0	1913	MELANOMA	-	-	-	-	ZNF99	uc021urt.1,p.P452L|NM_001080409,p.P452L|ENST00000397104,p.P361L|ENST00000596209,p.P452L	protein_coding	uc021urt.1	nonsynonymous SNV	exon4	c.C1355T	p.P452L	LRKHKIIHTGKQPYKCEECSKAFSN	LRKHKIIHTGKQLYKCEECSKAFSN	1.0	1.0	unscreened	-	1913_19:22941356-22941356 G>A_LRKHKIIHTGKQLYKCEECSKAFSN
1:176983946-176983946 C>T	1.0	1913	MELANOMA	-	-	ID=COSM221637;OCCURENCE=2(skin)	-	ASTN1	ENST00000367657,p.E502K|uc001glc.3,p.E502K|NM_001286164,p.E502K|ENST00000424564,p.E502K|NM_207108,p.E502K|ENST00000361833,p.E502K|uc001glb.1,p.E502K|ENST00000367654,p.E510K|NM_004319,p.E502K|uc001gld.1,p.E502K|uc009wwx.1,p.E502K	protein_coding, processed_transcript	uc009wwx.1	nonsynonymous SNV	exon8	c.G1504A	p.E502K	KDPVHKHLCIRNEWGTNQGPWPYTI	KDPVHKHLCIRNKWGTNQGPWPYTI	5.0	8.0	unscreened	-	1913_1:176983946-176983946 C>T_KDPVHKHLCIRNKWGTNQGPWPYTI
5:153760020-153760020 G>A	1.0	1913	MELANOMA	-	-	-	-	GALNT10	uc010jid.3,p.R97Q|ENST00000377661,p.R194Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jid.3	nonsynonymous SNV	exon3	c.G290A	p.R97Q	LVDDFSDRDRIARNRKTIVCPMIDV	LVDDFSDRDRIAQNRKTIVCPMIDV	7.0	7.0	unscreened	-	1913_5:153760020-153760020 G>A_LVDDFSDRDRIAQNRKTIVCPMIDV
9:27173357-27173357 G>A	0.0	1913	MELANOMA	-	-	-	-	TEK	NM_000459,p.E300K|ENST00000380036,p.E300K|uc011lnn.1,p.E300K|uc003zqi.4,p.E300K	protein_coding, nonsense_mediated_decay	uc011lnn.1	nonsynonymous SNV	exon6	c.G898A	p.E300K	SCATGWKGLQCNEACHPGFYGPDCK	SCATGWKGLQCNKACHPGFYGPDCK	1.0	9.0	unscreened	-	1913_9:27173357-27173357 G>A_SCATGWKGLQCNKACHPGFYGPDCK
8:2949181-2949181 G>A	0.0	1913	MELANOMA	-	-	-	-	CSMD1	ENST00000520002,p.S2382F|NM_033225,p.S2381F|ENST00000537824,p.S2381F|uc010lrg.3,p.S450F|ENST00000602723,p.S2382F|uc022aqr.1,p.S2381F|ENST00000400186,p.S2382F|ENST00000602557,p.S2382F|ENST00000542608,p.S2381F	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon48	c.C7142T	p.S2381F	EKQFDALEVFDGSSGQSPLLVVLSG	EKQFDALEVFDGFSGQSPLLVVLSG	1.0	5.0	unscreened	-	1913_8:2949181-2949181 G>A_EKQFDALEVFDGFSGQSPLLVVLSG
6:35210828-35210828 G>A	1.0	1913	MELANOMA	-	-	-	-	SCUBE3	ENST00000394681,p.R591Q|uc003okf.1,p.R575Q|uc003okg.1,p.R574Q|ENST00000274938,p.R575Q|NM_152753,p.R575Q|uc003okh.1,p.R462Q	protein_coding	uc003okh.1	nonsynonymous SNV	exon15	c.G1385A	p.R462Q	TTASCGLPCLRQRMERRLKGSLKML	TTASCGLPCLRQQMERRLKGSLKML	4.0	8.0	unscreened	-	1913_6:35210828-35210828 G>A_TTASCGLPCLRQQMERRLKGSLKML
22:50988271-50988271 C>T	0.0	1913	MELANOMA	-	-	-	-	KLHDC7B	NM_138433,p.A559V|ENST00000395676,p.A559V|uc003bmi.3,p.A559V	protein_coding	uc003bmi.3	nonsynonymous SNV	exon1	c.C1676T	p.A559V	QVTATFTVSGGTAQFQAKELQPFPL	QVTATFTVSGGTVQFQAKELQPFPL	2.0	7.0	unscreened	-	1913_22:50988271-50988271 C>T_QVTATFTVSGGTVQFQAKELQPFPL
11:6867041-6867041 A>T	0.0	1913	MELANOMA	-	-	-	-	OR10A5	uc001met.1,p.N43I|NM_178168,p.N43I|ENST00000379831,p.N47I|ENST00000299454,p.N43I	protein_coding	uc001met.1	nonsynonymous SNV	exon1	c.A128T	p.N43I	TFLTIYLVTLKGNSLIILVTLADPM	TFLTIYLVTLKGISLIILVTLADPM	1.0	1.0	unscreened	-	1913_11:6867041-6867041 A>T_TFLTIYLVTLKGISLIILVTLADPM
7:123152214-123152214 C>T	1.0	1913	MELANOMA	-	-	-	-	IQUB	ENST00000324698,p.E61K|uc003vko.3,p.E61K|NM_178827,p.E61K|ENST00000434450,p.E61K|ENST00000484508,p.E61K|uc003vkp.1,p.E61K|ENST00000466202,p.E61K|NM_001282855,p.E61K|ENST00000469057,p.E61K|uc003vkq.2,p.E61K|uc003vkn.3,p.E61K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vkq.2	nonsynonymous SNV	exon2	c.G181A	p.E61K	IEQFSESHAIHVEEQSDQSFSSLEP	IEQFSESHAIHVKEQSDQSFSSLEP	2.0	6.0	unscreened	-	1913_7:123152214-123152214 C>T_IEQFSESHAIHVKEQSDQSFSSLEP
12:109526174-109526174 G>A	1.0	1913	MELANOMA	-	-	-	-	ALKBH2	uc010sxk.1,p.P142S|uc009zvd.2,p.P142S|NM_001205179,p.P142S|NM_001205180,p.P142S|ENST00000440112,p.P142S	retained_intron, protein_coding	uc010sxk.1	nonsynonymous SNV	exon3	c.C424T	p.P142S	SSGIRIPVGKAPPGGWRWSGCRWPT	SSGIRIPVGKAPSGGWRWSGCRWPT	9.0	3.0	unscreened	-	1913_12:109526174-109526174 G>A_SSGIRIPVGKAPSGGWRWSGCRWPT
19:9090869-9090869 C>T	0.0	1913	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.E316K|NM_024690,p.E316K|uc002mkp.3,p.E316K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.G946A	p.E316K	QSLTSPLSPGVPEARASTMPNSAIP	QSLTSPLSPGVPKARASTMPNSAIP	1.0	9.0	unscreened	-	1913_19:9090869-9090869 C>T_QSLTSPLSPGVPKARASTMPNSAIP
11:55890134-55890134 G>A	0.0	1913	MELANOMA	-	-	-	-	OR8H3	uc001nii.1,p.G96S|ENST00000313472,p.G96S|NM_001005201,p.G96S	protein_coding	uc001nii.1	nonsynonymous SNV	exon1	c.G286A	p.G96S	ANLLTSNYISFTGCFAQMFCFVFLG	ANLLTSNYISFTSCFAQMFCFVFLG	1.0	8.0	unscreened	-	1913_11:55890134-55890134 G>A_ANLLTSNYISFTSCFAQMFCFVFLG
9:14824968-14824968 G>A	0.0	1913	MELANOMA	-	-	-	-	FREM1	NM_144966,p.P635L|ENST00000422223,p.P635L|uc003zlm.3,p.P635L|ENST00000380875,p.P635L|ENST00000380880,p.P635L|ENST00000380881,p.P636L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zlm.3	nonsynonymous SNV	exon12	c.C1904T	p.P635L	LSVPQVATIHITPVDDQLPKEAPGV	LSVPQVATIHITLVDDQLPKEAPGV	1.0	9.0	unscreened	-	1913_9:14824968-14824968 G>A_LSVPQVATIHITLVDDQLPKEAPGV
3:134873033-134873033 C>T	0.0	1913	MELANOMA	-	-	-	-	EPHB1	ENST00000398015,p.T446I|NM_004441,p.T446I|uc003eqt.3,p.T446I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003eqt.3	nonsynonymous SNV	exon6	c.C1337T	p.T446I	PSTVPIMHQVSATMRSITLSWPQPE	PSTVPIMHQVSAIMRSITLSWPQPE	3.0	2.0	unscreened	-	1913_3:134873033-134873033 C>T_PSTVPIMHQVSAIMRSITLSWPQPE
7:37936585-37936585 G>A	0.0	1913	MELANOMA	-	-	-	-	NME8	NM_016616,p.R553Q|ENST00000440017,p.R553Q|ENST00000199447,p.R553Q|uc003tfn.3,p.R553Q	retained_intron, protein_coding, nonsense_mediated_decay	uc003tfn.3	nonsynonymous SNV	exon17	c.G1658A	p.R553Q	PEEAKLLSPDSIRAQFGISKLKNIV	PEEAKLLSPDSIQAQFGISKLKNIV	1.0	5.0	unscreened	-	1913_7:37936585-37936585 G>A_PEEAKLLSPDSIQAQFGISKLKNIV
3:45132962-45132962 G>A	0.0	1913	MELANOMA	-	-	-	-	CDCP1	NM_022842,p.R566W|ENST00000296129,p.R566W|uc003com.3,p.R566W	protein_coding, processed_transcript	uc003com.3	nonsynonymous SNV	exon7	c.C1696T	p.R566W	KSKVYLRTPNWDRGLPSLTSVSWNI	KSKVYLRTPNWDWGLPSLTSVSWNI	1.0	4.0	unscreened	-	1913_3:45132962-45132962 G>A_KSKVYLRTPNWDWGLPSLTSVSWNI
X:108625379-108625379 C>T	0.0	1913	MELANOMA	-	-	-	-	GUCY2F	NM_001522,p.E1040K|uc004eod.4,p.E1040K|uc022cch.1,p.E1040K|ENST00000218006,p.E1040K	protein_coding	uc022cch.1	nonsynonymous SNV	exon16	c.G3118A	p.E1040K	TVTILQNLSEGYEVELRGRTELKGK	TVTILQNLSEGYKVELRGRTELKGK	1.0	9.0	unscreened	-	1913_X:108625379-108625379 C>T_TVTILQNLSEGYKVELRGRTELKGK
19:41594873-41594873 G>T	0.0	1913	MELANOMA	-	-	-	-	CYP2A13	ENST00000330436,p.G74W|uc002opt.4,p.G74W|NM_000766,p.G74W	protein_coding	uc002opt.4	nonsynonymous SNV	exon2	c.G220T	p.G74W	SERYGPVFTIHLGPRRVVVLCGHDA	SERYGPVFTIHLWPRRVVVLCGHDA	1.0	5.0	unscreened	-	1913_19:41594873-41594873 G>T_SERYGPVFTIHLWPRRVVVLCGHDA
15:85448794-85448794 G>A	0.0	1913	MELANOMA	-	-	-	-	SLC28A1	uc010upf.1,p.G210R|uc010upd.1,p.G132R|NM_004213,p.G210R|uc010bnb.3,p.G210R|uc010upg.1,p.G210R|ENST00000394573,p.G210R|NM_001287761,p.G210R|uc010upe.2,p.G210R|NM_001287762,p.G210R|uc002blg.3,p.G210R|ENST00000537624,p.G210R|ENST00000537216,p.G210R|ENST00000538177,p.G210R|ENST00000286749,p.G210R|ENST00000537703,p.G132R	protein_coding	uc010upg.1	nonsynonymous SNV	exon8	c.G628A	p.G210R	HHCAVSWRAVSWGLGLQFVLGLLVI	HHCAVSWRAVSWRLGLQFVLGLLVI	1.0	1.0	unscreened	-	1913_15:85448794-85448794 G>A_HHCAVSWRAVSWRLGLQFVLGLLVI
19:7056626-7056626 C>T	0.0	1913	MELANOMA	-	-	-	-	MBD3L3	ENST00000333843,p.E112K|NM_001164425,p.E112K|uc021uns.1,p.E112K	protein_coding	uc021uns.1	nonsynonymous SNV	exon2	c.G334A	p.E112K	SSQGEGSSPLHLESVLSILAPGTAG	SSQGEGSSPLHLKSVLSILAPGTAG	1.0	2.0	unscreened	-	1913_19:7056626-7056626 C>T_SSQGEGSSPLHLKSVLSILAPGTAG
1:117307202-117307202 G>A	0.0	1913	MELANOMA	-	-	-	-	CD2	uc001egu.4,p.R237K|ENST00000369478,p.R237K|NM_001767,p.R237K	protein_coding	uc001egu.4	nonsynonymous SNV	exon4	c.G710A	p.R237K	VFVALLVFYITKRKKQRSRRNDEEL	VFVALLVFYITKKKKQRSRRNDEEL	2.0	9.0	unscreened	-	1913_1:117307202-117307202 G>A_VFVALLVFYITKKKKQRSRRNDEEL
17:11840813-11840813 G>A	1.0	1913	MELANOMA	-	-	ID=COSM39112;OCCURENCE=1(central_nervous_system),1(large_intestine)	-	DNAH9	ENST00000396001,p.G524R|uc002gnf.3,p.G524R|uc010coo.3,p.G3430R|uc002gne.3,p.G4212R|NM_004662,p.G524R|ENST00000262442,p.G4212R|ENST00000454412,p.G4136R|NM_001372,p.G4212R	retained_intron, protein_coding, processed_transcript	uc010coo.3	nonsynonymous SNV	exon53	c.G10288A	p.G3430R	LELQPRDSQARDGAGATREEKVKAL	LELQPRDSQARDRAGATREEKVKAL	10.0	4.0	unscreened	-	1913_17:11840813-11840813 G>A_LELQPRDSQARDRAGATREEKVKAL
1:169578895-169578895 G>A	0.0	1913	MELANOMA	-	-	-	-	SELP	ENST00000458599,p.H332Y|ENST00000367786,p.H332Y|ENST00000367794,p.H332Y|ENST00000367792,p.H332Y	protein_coding, processed_transcript	ENST00000458599	nonsynonymous SNV	exon7	c.C994T	p.H332Y	KAISCEPLESPVHGSMDCSPSLRAF	KAISCEPLESPVYGSMDCSPSLRAF	1.0	7.0	unscreened	-	1913_1:169578895-169578895 G>A_KAISCEPLESPVYGSMDCSPSLRAF
1:169578895-169578895 G>A	0.0	1913	MELANOMA	-	-	-	-	SELP	NM_003005,p.H394Y|ENST00000426706,p.H393Y|uc001ggi.4,p.H394Y|ENST00000367788,p.H332Y|ENST00000367793,p.H332Y|ENST00000263686,p.H394Y|uc001ggh.3,p.H229Y|uc009wvr.3,p.H394Y	protein_coding, processed_transcript	uc009wvr.3	nonsynonymous SNV	exon8	c.C1180T	p.H394Y	EAISCEPLESPVHGSMDCSPSLRAF	EAISCEPLESPVYGSMDCSPSLRAF	1.0	7.0	unscreened	-	1913_1:169578895-169578895 G>A_EAISCEPLESPVYGSMDCSPSLRAF
8:113326813-113326813 G>A	0.0	1913	MELANOMA	-	-	-	2	CSMD3	NM_052900,p.S2361F|ENST00000343508,p.S2425F|NM_198123,p.S2465F|ENST00000339701,p.S1735F|uc003ynw.1,p.S176F|uc003ynu.3,p.S2465F|NM_198124,p.S2425F|ENST00000455883,p.S2361F|uc003yns.3,p.S1667F|ENST00000352409,p.S2395F|uc011lhx.2,p.S2361F|ENST00000297405,p.S2465F|uc003ynt.3,p.S2425F	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon47	c.C7082T	p.S2361F	QVLCPANELRLDSTGVILSPGYPDS	QVLCPANELRLDFTGVILSPGYPDS	1.0	5.0	unscreened	-	1913_8:113326813-113326813 G>A_QVLCPANELRLDFTGVILSPGYPDS
5:13735264-13735264 C>T	0.0	1913	MELANOMA	-	-	-	-	DNAH5	uc003jfc.2,p.E81K|uc003jfd.2,p.E3913K|ENST00000265104,p.E3913K|NM_001369,p.E3913K	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon68	c.G11737A	p.E3913K	LKIDIQRNRVKHEEFLTLIKGGASL	LKIDIQRNRVKHKEFLTLIKGGASL	1.0	9.0	unscreened	-	1913_5:13735264-13735264 C>T_LKIDIQRNRVKHKEFLTLIKGGASL
4:169432858-169432858 T>A	0.0	1913	MELANOMA	-	-	-	-	PALLD	uc011cjx.2,p.F68Y|NM_016081,p.F68Y|ENST00000508898,p.F47Y|ENST00000261509,p.F68Y|NM_001166108,p.F68Y|uc003iru.3,p.F68Y|ENST00000505667,p.F68Y	retained_intron, protein_coding	uc011cjx.2	nonsynonymous SNV	exon2	c.T203A	p.F68Y	EDFDSEKEISQIFSTSPASLCEHPS	EDFDSEKEISQIYSTSPASLCEHPS	1.0	9.0	unscreened	-	1913_4:169432858-169432858 T>A_EDFDSEKEISQIYSTSPASLCEHPS
14:95030144-95030144 C>T	0.0	1913	MELANOMA	-	-	-	-	SERPINA4	uc010avd.3,p.L146F|ENST00000298841,p.L109F|uc001ydl.3,p.L109F|NM_001289033,p.L109F|ENST00000555095,p.L109F|NM_006215,p.L109F|uc001ydk.3,p.L109F|NM_001289032,p.L146F|ENST00000557004,p.L109F	protein_coding	uc010avd.3	nonsynonymous SNV	exon2	c.C436T	p.L146F	SRSQILEGLGFNLTELSESDVHRGF	SRSQILEGLGFNFTELSESDVHRGF	1.0	9.0	unscreened	-	1913_14:95030144-95030144 C>T_SRSQILEGLGFNFTELSESDVHRGF
2:179484519-179484519 C>T	1.0	1913	MELANOMA	-	-	-	-	TTN	uc031rqd.1,p.E13868K|NM_133432,p.E6569K|uc021vta.2,p.E6569K|ENST00000460472,p.E6444K|uc021vsz.2,p.E6636K|NM_001267550,p.E15509K|uc031rqc.1,p.E15509K|NM_133378,p.E12941K|ENST00000591111,p.E13868K|uc021vsy.2,p.E12941K|ENST00000342175,p.E6636K|NM_001256850,p.E13868K|ENST00000589042,p.E15509K|ENST00000342992,p.E12941K|uc021vtb.2,p.E6444K|NM_003319,p.E6444K|ENST00000359218,p.E6569K|NM_133437,p.E6636K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon200	c.G41602A	p.E13868K	VVFLAELNKDKVEVQWLRNNMVVVQ	VVFLAELNKDKVKVQWLRNNMVVVQ	2.0	6.0	unscreened	-	1913_2:179484519-179484519 C>T_VVFLAELNKDKVKVQWLRNNMVVVQ
X:30578348-30578348 G>T	0.0	1913	MELANOMA	-	-	-	-	CXorf21	uc004dcg.2,p.S42Y|ENST00000378962,p.S42Y|NM_025159,p.S42Y|uc022bui.1,p.S42Y	protein_coding	uc022bui.1	nonsynonymous SNV	exon1	c.C125A	p.S42Y	EKEEETNSVATLSYSSVDETQVRSL	EKEEETNSVATLYYSSVDETQVRSL	1.0	9.0	unscreened	-	1913_X:30578348-30578348 G>T_EKEEETNSVATLYYSSVDETQVRSL
10:124339268-124339268 G>A	0.0	1913	MELANOMA	-	-	ID=COSM299175,COSM299176;OCCURENCE=1(large_intestine)	-	DMBT1	uc001lgl.1,p.G285E|ENST00000368955,p.G285E|uc021qag.1,p.G285E|uc009xzz.1,p.G285E|NM_017579,p.G285E|NM_004406,p.G285E|uc001lgm.1,p.G285E|uc001lgk.1,p.G285E|ENST00000344338,p.G285E|ENST00000330163,p.G285E|NM_007329,p.G285E|uc021qaf.1,p.G285E|uc009yaa.1,p.G137E|ENST00000368956,p.G285E|uc021qah.1,p.G285E|ENST00000368909,p.G285E|ENST00000338354,p.G285E	protein_coding	uc021qah.1	nonsynonymous SNV	exon10	c.G854A	p.G285E	RQLGCGWAMSAPGNAQFGQGSGPIV	RQLGCGWAMSAPENAQFGQGSGPIV	1.0	5.0	unscreened	-	1913_10:124339268-124339268 G>A_RQLGCGWAMSAPENAQFGQGSGPIV
7:99474326-99474326 C>T	1.0	1913	MELANOMA	-	-	-	-	OR2AE1	NM_001005276,p.E111K|uc003usc.1,p.E111K|ENST00000316368,p.E111K	protein_coding	uc003usc.1	nonsynonymous SNV	exon1	c.G331A	p.E111K	TQHFLYLCLGGAECFLLAVMSYDRY	TQHFLYLCLGGAKCFLLAVMSYDRY	3.0	6.0	unscreened	-	1913_7:99474326-99474326 C>T_TQHFLYLCLGGAKCFLLAVMSYDRY
X:84622771-84622771 C>T	0.0	1913	MELANOMA	-	-	-	-	POF1B	uc004eer.2,p.E95K|uc004ees.3,p.E95K|ENST00000490301,p.E95K|ENST00000373145,p.E95K|ENST00000262753,p.E95K|NM_024921,p.E95K	protein_coding, nonsense_mediated_decay	uc004ees.3	nonsynonymous SNV	exon3	c.G283A	p.E95K	SYQNLVWSDHSQELHSPTLKISTCA	SYQNLVWSDHSQKLHSPTLKISTCA	1.0	9.0	unscreened	-	1913_X:84622771-84622771 C>T_SYQNLVWSDHSQKLHSPTLKISTCA
12:86373334-86373334 T>G	0.0	1913	MELANOMA	-	-	-	-	MGAT4C	uc001tah.4,p.K390N|uc010sum.2,p.K414N|ENST00000549405,p.K390N|ENST00000548651,p.K390N|uc001taj.4,p.K390N|ENST00000393205,p.K419N|uc001tai.4,p.K390N|uc001tak.4,p.K390N|ENST00000604798,p.K390N|NM_013244,p.K390N|ENST00000332156,p.K390N|ENST00000552808,p.K390N|uc001tal.4,p.K390N	protein_coding, processed_transcript	uc010sum.2	nonsynonymous SNV	exon6	c.A1242C	p.K414N	VFVIVFENPIIIKKIKVNTGTEDRQ	VFVIVFENPIIINKIKVNTGTEDRQ	1.0	9.0	unscreened	-	1913_12:86373334-86373334 T>G_VFVIVFENPIIINKIKVNTGTEDRQ
1:169487778-169487778 C>T	1.0	1913	MELANOMA	-	-	-	-	F5	ENST00000367797,p.E2073K|uc001ggg.1,p.E2073K|ENST00000367796,p.E2078K|NM_000130,p.E2073K	protein_coding, processed_transcript	uc001ggg.1	nonsynonymous SNV	exon23	c.G6217A	p.E2073K	CEVNGCSTPLGMENGKIENKQITAS	CEVNGCSTPLGMKNGKIENKQITAS	4.0	1.0	unscreened	-	1913_1:169487778-169487778 C>T_CEVNGCSTPLGMKNGKIENKQITAS
5:140221792-140221792 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1433910,COSM1433911;OCCURENCE=1(large_intestine)	-	PCDHA8	uc003lhs.2,p.D296N|NM_018911,p.D296N|uc003lhr.1,p.D296N|ENST00000378123,p.D296N|NM_031856,p.D296N|ENST00000531613,p.D296N	protein_coding	uc003lhs.2	nonsynonymous SNV	exon1	c.G886A	p.D296N	LVETMVIDHFSIDRNTGEIVIRGNL	LVETMVIDHFSINRNTGEIVIRGNL	1.0	8.0	unscreened	-	1913_5:140221792-140221792 G>A_LVETMVIDHFSINRNTGEIVIRGNL
10:94037-94037 T>A	0.0	1913	MELANOMA	-	-	-	-	TUBB8	NM_177987,p.N99Y|uc001ifi.2,p.N99Y|ENST00000447903,p.N27Y|ENST00000309812,p.N99Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ifi.2	nonsynonymous SNV	exon4	c.A295T	p.N99Y	PDNFIFGQCGAGNNWAKGHYTEGAE	PDNFIFGQCGAGYNWAKGHYTEGAE	1.0	3.0	unscreened	-	1913_10:94037-94037 T>A_PDNFIFGQCGAGYNWAKGHYTEGAE
6:62995802-62995802 C>T	0.0	1913	MELANOMA	-	-	-	-	KHDRBS2	ENST00000281156,p.D18N|uc003peg.2,p.D18N|NM_152688,p.D18N	protein_coding	uc003peg.2	nonsynonymous SNV	exon1	c.G52A	p.D18N	YLPELMAEKDSLDPSFVHASRLLAE	YLPELMAEKDSLNPSFVHASRLLAE	1.0	1.0	unscreened	-	1913_6:62995802-62995802 C>T_YLPELMAEKDSLNPSFVHASRLLAE
9:90262298-90262298 C>T	0.0	1913	MELANOMA	-	-	-	-	DAPK1	NM_004938,p.P437S|NM_001288731,p.P437S|uc004apc.3,p.P437S|NM_001288730,p.P437S|uc004ape.3,p.P437S|ENST00000472284,p.P437S|ENST00000469640,p.P437S|uc011ltg.2,p.P437S|uc004apd.3,p.P437S|uc011lth.2,p.P174S|ENST00000408954,p.P437S|ENST00000358077,p.P437S|NM_001288729,p.P437S|ENST00000491893,p.P437S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lth.2	nonsynonymous SNV	exon12	c.C520T	p.P174S	VDTLKFLSENKCPLDVKDKSGEMAL	VDTLKFLSENKCSLDVKDKSGEMAL	1.0	3.0	unscreened	-	1913_9:90262298-90262298 C>T_VDTLKFLSENKCSLDVKDKSGEMAL
9:14842599-14842599 G>A	0.0	1913	MELANOMA	-	-	-	-	FREM1	ENST00000380881,p.H486Y|ENST00000422223,p.H485Y|uc003zlm.3,p.H485Y|NM_144966,p.H485Y|ENST00000380875,p.H485Y|ENST00000380880,p.H485Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zlm.3	nonsynonymous SNV	exon10	c.C1453T	p.H485Y	VADLQAGVVRYHHDDSDSTKDFVVF	VADLQAGVVRYHYDDSDSTKDFVVF	1.0	9.0	unscreened	-	1913_9:14842599-14842599 G>A_VADLQAGVVRYHYDDSDSTKDFVVF
15:33941282-33941282 T>G	0.0	1913	MELANOMA	-	-	-	-	RYR3	ENST00000415757,p.Y1330D|uc001zhi.3,p.Y1330D|NM_001036,p.Y1330D|ENST00000389232,p.Y1330D|NM_001243996,p.Y1330D|uc010bar.3,p.Y1330D	retained_intron, protein_coding, processed_transcript	uc010bar.3	nonsynonymous SNV	exon31	c.T3988G	p.Y1330D	QEILSHTTTQCYYAIRIFAGQDPSC	QEILSHTTTQCYDAIRIFAGQDPSC	4.0	7.0	unscreened	-	1913_15:33941282-33941282 T>G_QEILSHTTTQCYDAIRIFAGQDPSC
20:2572992-2572992 A>C	0.0	1913	MELANOMA	-	-	-	-	TMC2	uc010zpx.1,p.K122Q|uc002wgf.1,p.K291Q|ENST00000358864,p.K291Q|uc010zpw.1,p.K123Q|uc002wgg.1,p.K275Q|NM_080751,p.K291Q	protein_coding, processed_transcript	uc010zpx.1	nonsynonymous SNV	exon6	c.A364C	p.K122Q	VLMGMPYGSIPRKTVPRAEEEKAMD	VLMGMPYGSIPRQTVPRAEEEKAMD	1.0	6.0	unscreened	-	1913_20:2572992-2572992 A>C_VLMGMPYGSIPRQTVPRAEEEKAMD
2:3727495-3727495 G>A	0.0	1913	MELANOMA	-	-	-	-	ALLC	ENST00000252505,p.G70E|NM_018436,p.G70E|uc010ewt.3,p.G70E	retained_intron, protein_coding, processed_transcript	uc010ewt.3	nonsynonymous SNV	exon5	c.G209A	p.G70E	GHDWCVLRLGIQGVIRGFDVDVSYF	GHDWCVLRLGIQEVIRGFDVDVSYF	1.0	9.0	unscreened	-	1913_2:3727495-3727495 G>A_GHDWCVLRLGIQEVIRGFDVDVSYF
7:77522959-77522959 C>G	1.0	1913	MELANOMA	-	-	-	-	PHTF2	uc003ugq.4,p.S27C|NM_020432,p.S27C|uc003ugp.3,p.S27C|ENST00000415251,p.S27C|NM_001127358,p.S27C|ENST00000275575,p.S27C|NM_001127360,p.S27C|uc003ugu.4,p.S27C|uc003ugo.4,p.S27C|ENST00000424760,p.S27C|ENST00000307305,p.S27C|uc010ldv.3,p.S27C	retained_intron, protein_coding, processed_transcript	uc010ldv.3	nonsynonymous SNV	exon3	c.C80G	p.S27C	KIGAYDQQIWEKSVEQREIKGLRNK	KIGAYDQQIWEKCVEQREIKGLRNK	8.0	2.0	unscreened	-	1913_7:77522959-77522959 C>G_KIGAYDQQIWEKCVEQREIKGLRNK
10:62648147-62648147 C>T	1.0	1913	MELANOMA	-	-	-	-	RHOBTB1	NM_001242359,p.E427K|uc001jli.3,p.E427K|uc001jlk.3,p.E427K|ENST00000357917,p.E427K|ENST00000337910,p.E427K|uc001jlh.3,p.E427K|uc009xpe.2,p.E365K|NM_014836,p.E427K|uc001jlj.3,p.E427K	protein_coding, processed_transcript	uc009xpe.2	nonsynonymous SNV	exon4	c.G1093A	p.E365K	LQFLYTGQLDEKEKDLVGLAQIAEV	LQFLYTGQLDEKKKDLVGLAQIAEV	5.0	7.0	unscreened	-	1913_10:62648147-62648147 C>T_LQFLYTGQLDEKKKDLVGLAQIAEV
3:2777916-2777916 G>A	0.0	1913	MELANOMA	-	-	-	-	CNTN4	ENST00000455083,p.G25S|NM_001206955,p.G25S|ENST00000427741,p.G25S|uc003bpd.1,p.G25S|uc003bpc.3,p.G25S|ENST00000418658,p.G25S|NM_175607,p.G25S|ENST00000397461,p.G25S|ENST00000422330,p.G25S|uc021wsg.1,p.G25S|ENST00000427331,p.G25S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wsg.1	nonsynonymous SNV	exon4	c.G73A	p.G25S	FILCLADDSTLHGPIFIQEPSPVMF	FILCLADDSTLHSPIFIQEPSPVMF	1.0	2.0	unscreened	-	1913_3:2777916-2777916 G>A_FILCLADDSTLHSPIFIQEPSPVMF
3:150377837-150377837 C>T	0.0	1913	MELANOMA	-	-	-	-	ERICH6	ENST00000491361,p.G466R|uc003eyg.3,p.G612R|ENST00000295910,p.G612R|NM_152394,p.G612R|uc003eyh.3,p.G466R	retained_intron, protein_coding	uc003eyh.3	nonsynonymous SNV	exon14	c.G1396A	p.G466R	LIKIRRLFHKLEGCVNFPSSQVWEK	LIKIRRLFHKLERCVNFPSSQVWEK	1.0	2.0	unscreened	-	1913_3:150377837-150377837 C>T_LIKIRRLFHKLERCVNFPSSQVWEK
3:46477712-46477712 C>T	0.0	1913	MELANOMA	-	-	-	-	LTF	uc003fzr.3,p.E659K|uc003cpq.3,p.E703K|NM_002343,p.E703K|ENST00000417439,p.E701K|ENST00000231751,p.E703K|ENST00000426532,p.E659K|uc010hjh.3,p.E701K|uc003cpr.3,p.E690K|NM_001199149,p.E659K	retained_intron, protein_coding, processed_transcript	uc010hjh.3	nonsynonymous SNV	exon17	c.G2101A	p.E701K	TNLKKCSTSPLLEACEFLRK	TNLKKCSTSPLLKACEFLRK	3.0	9.0	unscreened	-	1913_3:46477712-46477712 C>T_TNLKKCSTSPLLKACEFLRK
14:91927810-91927810 G>A	1.0	1913	MELANOMA	-	-	-	-	SMEK1	ENST00000555462,p.P530L|ENST00000554943,p.P769L|ENST00000337238,p.P756L|NM_001284280,p.P756L|uc010atz.3,p.P530L|uc001xzn.3,p.P769L|uc001xzo.3,p.P756L|ENST00000428424,p.P530L|ENST00000554684,p.P756L|NM_001284281,p.P530L|uc001xzm.3,p.P756L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay	uc010atz.3	nonsynonymous SNV	exon12	c.C1589T	p.P530L	TSQSSTTNLPGSPGSPGSPGSPGSP	TSQSSTTNLPGSLGSPGSPGSPGSP	9.0	3.0	unscreened	-	1913_14:91927810-91927810 G>A_TSQSSTTNLPGSLGSPGSPGSPGSP
3:2777916-2777916 G>A	0.0	1913	MELANOMA	-	-	-	-	CNTN4	ENST00000434053,p.G43S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000434053	nonsynonymous SNV	exon4	c.G127A	p.G43S	LPALEADDSTLHGPIFIQEPSPVMF	LPALEADDSTLHSPIFIQEPSPVMF	1.0	2.0	unscreened	-	1913_3:2777916-2777916 G>A_LPALEADDSTLHSPIFIQEPSPVMF
8:69351734-69351734 G>A	0.0	1913	MELANOMA	-	-	-	-	C8orf34	uc010lyx.2,p.E110K|ENST00000518698,p.E110K|ENST00000523686,p.E24K|ENST00000348340,p.E24K|NM_001195639,p.E110K|uc010lyy.2,p.E110K|ENST00000539993,p.E24K|NM_052958,p.E110K|uc010lyz.3,p.E110K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lyz.3	nonsynonymous SNV	exon2	c.G328A	p.E110K	YLEKNKIGPLFEELMTKLITETPDQ	YLEKNKIGPLFEKLMTKLITETPDQ	1.0	4.0	unscreened	-	1913_8:69351734-69351734 G>A_YLEKNKIGPLFEKLMTKLITETPDQ
15:65623801-65623801 C>T	0.0	1913	MELANOMA	-	-	-	-	IGDCC3	uc002aos.2,p.A449T|ENST00000327987,p.A449T|uc031qsl.1,p.A312T|NM_004884,p.A449T|ENST00000558354,p.A312T	retained_intron, protein_coding, processed_transcript	uc031qsl.1	nonsynonymous SNV	exon7	c.G934A	p.A312T	STEVRVSWSEPLANTKEIIGYVLHI	STEVRVSWSEPLTNTKEIIGYVLHI	1.0	8.0	unscreened	-	1913_15:65623801-65623801 C>T_STEVRVSWSEPLTNTKEIIGYVLHI
20:10030307-10030307 G>A	1.0	1913	MELANOMA	-	-	-	-	ANKEF1	uc002wno.3,p.E364K|ENST00000378392,p.E364K|ENST00000378380,p.E364K|uc002wnp.3,p.E364K|NM_022096,p.E364K|NM_198798,p.E364K|uc010gbz.3,p.E175K	protein_coding, processed_transcript	uc010gbz.3	nonsynonymous SNV	exon7	c.G523A	p.E175K	GSISKNDFVMVLEERQDYASSEQLA	GSISKNDFVMVLKERQDYASSEQLA	3.0	5.0	unscreened	-	1913_20:10030307-10030307 G>A_GSISKNDFVMVLKERQDYASSEQLA
12:53003042-53003042 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1705659;OCCURENCE=1(skin)	-	KRT73	uc001sas.3,p.S452F|ENST00000305748,p.S452F|ENST00000552855,p.S197F|NM_175068,p.S452F	retained_intron, protein_coding	uc001sas.3	nonsynonymous SNV	exon8	c.C1355T	p.S452F	GEECRMSGEYTNSVSISVINSSMAG	GEECRMSGEYTNFVSISVINSSMAG	1.0	6.0	unscreened	-	1913_12:53003042-53003042 G>A_GEECRMSGEYTNFVSISVINSSMAG
14:89109245-89109245 A>G	0.0	1913	MELANOMA	-	-	ID=COSM1251168;OCCURENCE=1(oesophagus)	-	EML5	uc001xxf.3,p.V197A|uc001xxh.1,p.V541A|ENST00000554922,p.V1410A|ENST00000380664,p.V1402A|uc021ryf.1,p.V1410A|ENST00000352093,p.V1364A|NM_183387,p.V1410A|uc021ryg.1,p.V1410A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ryg.1	nonsynonymous SNV	exon31	c.T4229C	p.V1410A	IYHTASVGILHNVATGSQSFYQEHN	IYHTASVGILHNAATGSQSFYQEHN	5.0	6.0	unscreened	-	1913_14:89109245-89109245 A>G_IYHTASVGILHNAATGSQSFYQEHN
17:4689520-4689520 G>A	0.0	1913	MELANOMA	-	-	-	-	VMO1	NM_182566,p.P43L|ENST00000416307,p.P43L|NM_001144941,p.P43L|ENST00000441199,p.P43L|uc002fyy.3,p.P43L|ENST00000328739,p.P43L|ENST00000354194,p.P43L|NM_001144939,p.P43L|NM_001144940,p.P43L|uc002fyx.3,p.P43L|uc010vsh.2,p.P43L|uc010vsi.2,p.P43L	protein_coding	uc010vsi.2	nonsynonymous SNV	exon1	c.C128T	p.P43L	GYTAVIEVTSGGPWGDWAWPEMCPD	GYTAVIEVTSGGLWGDWAWPEMCPD	2.0	9.0	unscreened	-	1913_17:4689520-4689520 G>A_GYTAVIEVTSGGLWGDWAWPEMCPD
2:206166413-206166413 G>A	1.0	1913	MELANOMA	-	-	-	-	PARD3B	uc010fub.2,p.G873D|ENST00000462231,p.G873D	protein_coding, processed_transcript, nonsense_mediated_decay	uc010fub.2	nonsynonymous SNV	exon18	c.G2618A	p.G873D	EDPERKIKKKGFGAMLRYGPALKAK	EDPERKIKKKGFDAMLRYGPALKAK	4.0	6.0	unscreened	-	1913_2:206166413-206166413 G>A_EDPERKIKKKGFDAMLRYGPALKAK
7:21789930-21789930 C>T	0.0	1913	MELANOMA	-	-	-	-	DNAH11	uc031swp.1,p.S2963F|ENST00000409508,p.S2963F|uc031swq.1,p.S1160F|ENST00000328843,p.S2970F|NM_001277115,p.S2963F	retained_intron, protein_coding, processed_transcript	uc031swq.1	nonsynonymous SNV	exon54	c.C3479T	p.S1160F	IHNEVHALGMVDSRENCWKFFMARV	IHNEVHALGMVDFRENCWKFFMARV	5.0	5.0	unscreened	-	1913_7:21789930-21789930 C>T_IHNEVHALGMVDFRENCWKFFMARV
12:109723146-109723146 C>T	0.0	1913	MELANOMA	-	-	-	-	FOXN4	ENST00000423960,p.G207R	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000423960	nonsynonymous SNV	exon5	c.G619A	p.G207R	QDGGGDAQVEEEGPGCHPPEYGQP	QDGGGDAQVEEERPGCHPPEYGQP	1.0	2.0	unscreened	-	1913_12:109723146-109723146 C>T_QDGGGDAQVEEERPGCHPPEYGQP
16:78064349-78064349 C>T	0.0	1913	MELANOMA	-	-	-	-	CLEC3A	NM_001244755,p.L17F|uc021tlr.1,p.L17F	protein_coding, processed_transcript, nonsense_mediated_decay	uc021tlr.1	nonsynonymous SNV	exon2	c.C49T	p.L17F	LQMRKMRHKEVCLRGTKVHKKCYLA	LQMRKMRHKEVCFRGTKVHKKCYLA	1.0	2.0	unscreened	-	1913_16:78064349-78064349 C>T_LQMRKMRHKEVCFRGTKVHKKCYLA
22:30951608-30951608 G>T	1.0	1913	MELANOMA	-	-	-	-	GAL3ST1	ENST00000441967,p.R202S|ENST00000401975,p.R202S|ENST00000338911,p.R202S|NM_004861,p.R202S|ENST00000431313,p.R203S|uc003aig.1,p.R202S|ENST00000402321,p.R202S|uc003aii.1,p.R202S|ENST00000406955,p.R202S|uc010gvz.1,p.R202S|ENST00000402369,p.R202S|ENST00000443111,p.R202S|uc003aih.1,p.R202S|ENST00000406361,p.R202S|ENST00000452827,p.R202S	protein_coding	uc010gvz.1	nonsynonymous SNV	exon3	c.C604A	p.R202S	GDKLTEFLQDPDRYYDPNGFNAHYL	GDKLTEFLQDPDSYYDPNGFNAHYL	1.0	6.0	unscreened	-	1913_22:30951608-30951608 G>T_GDKLTEFLQDPDSYYDPNGFNAHYL
3:111319710-111319710 C>T	0.0	1913	MELANOMA	-	-	-	-	CD96	NM_198196,p.P362S|ENST00000352690,p.P346S|ENST00000494798,p.P346S|uc010hpy.1,p.P346S|NM_005816,p.P346S|ENST00000438817,p.P346S|uc003dxv.3,p.P346S|uc003dxw.3,p.P362S|uc003dxx.3,p.P346S|ENST00000283285,p.P362S	protein_coding, nonsense_mediated_decay	uc010hpy.1	nonsynonymous SNV	exon7	c.C1036T	p.P346S	NLTIWCMALSPVPGNKVWNISSEKI	NLTIWCMALSPVSGNKVWNISSEKI	2.0	1.0	unscreened	-	1913_3:111319710-111319710 C>T_NLTIWCMALSPVSGNKVWNISSEKI
3:97311555-97311555 G>A	0.0	1913	MELANOMA	-	-	-	-	EPHA6	NM_173655,p.G221E|uc010how.1,p.G829E|ENST00000389672,p.G829E|uc011bgp.2,p.G195E|ENST00000508345,p.G195E|uc003drs.5,p.G221E|ENST00000502694,p.G221E|ENST00000442602,p.G195E|uc003drt.4,p.G221E|NM_001278300,p.G221E|uc003drr.5,p.G221E|NM_001080448,p.G829E|ENST00000514100,p.G221E	protein_coding, nonsense_mediated_decay	uc011bgp.2	nonsynonymous SNV	exon8	c.G584A	p.G195E	NSIQAPHPVPGGGSLPPRIPAGRPV	NSIQAPHPVPGGESLPPRIPAGRPV	1.0	3.0	unscreened	-	1913_3:97311555-97311555 G>A_NSIQAPHPVPGGESLPPRIPAGRPV
3:14863024-14863024 G>A	0.0	1913	MELANOMA	-	-	-	-	FGD5	NM_152536,p.E816K|uc011avk.2,p.E816K|ENST00000543601,p.E575K|uc003bzc.3,p.E816K|ENST00000285046,p.E816K	retained_intron, protein_coding, processed_transcript	uc011avk.2	nonsynonymous SNV	exon1	c.G2446A	p.E816K	FEDQSRALSTANENDGYVDMSSFNA	FEDQSRALSTANKNDGYVDMSSFNA	1.0	1.0	unscreened	-	1913_3:14863024-14863024 G>A_FEDQSRALSTANKNDGYVDMSSFNA
10:124402784-124402784 C>T	0.0	1913	MELANOMA	-	-	-	-	DMBT1	uc001lgm.1,p.S1743F|uc009yac.1,p.S665F|NM_004406,p.S1743F|ENST00000368955,p.S2361F|ENST00000344338,p.S2361F|uc010qtx.1,p.S1091F|uc009yab.1,p.S1074F|uc001lgk.1,p.S2371F|ENST00000368956,p.S1743F|uc021qah.1,p.S1743F|ENST00000359586,p.S1091F|ENST00000330163,p.S1743F|ENST00000338354,p.S2371F|uc021qag.1,p.S2361F|NM_007329,p.S2371F|NM_017579,p.S2361F|uc009xzz.1,p.S2370F|uc001lgl.1,p.S2361F|ENST00000368909,p.S2371F|uc021qaf.1,p.S2371F	protein_coding	uc021qah.1	nonsynonymous SNV	exon40	c.C5228T	p.S1743F	RCKMVVCRAYDPSSRCYRGCVLRSK	RCKMVVCRAYDPFSRCYRGCVLRSK	1.0	5.0	unscreened	-	1913_10:124402784-124402784 C>T_RCKMVVCRAYDPFSRCYRGCVLRSK
8:2813142-2813142 C>T	0.0	1913	MELANOMA	-	-	-	-	CSMD1	uc011kwj.2,p.M2651I	retained_intron, protein_coding, processed_transcript	uc011kwj.2	nonsynonymous SNV	exon51	c.G7953A	p.M2651I	AGGSEHRTCKADMKWTGKSPVCKIP	AGGSEHRTCKADIKWTGKSPVCKIP	1.0	6.0	unscreened	-	1913_8:2813142-2813142 C>T_AGGSEHRTCKADIKWTGKSPVCKIP
18:55024677-55024677 G>A	0.0	1913	MELANOMA	-	-	ID=COSM107591;OCCURENCE=1(skin)	-	ST8SIA3	NM_015879,p.G279E|ENST00000324000,p.G279E|uc002lgn.3,p.G279E	protein_coding, lincRNA	uc002lgn.3	nonsynonymous SNV	exon3	c.G836A	p.G279E	HRGQLKVQLAWPGNIMQHVNRYWKN	HRGQLKVQLAWPENIMQHVNRYWKN	1.0	9.0	unscreened	-	1913_18:55024677-55024677 G>A_HRGQLKVQLAWPENIMQHVNRYWKN
4:154626012-154626012 T>G	0.0	1913	MELANOMA	-	-	-	-	TLR2	uc003inr.3,p.D651E|NM_003264,p.D651E|uc021xtl.1,p.D651E|uc003ins.3,p.D651E|uc003inq.3,p.D651E|ENST00000260010,p.D651E	protein_coding	uc021xtl.1	nonsynonymous SNV	exon1	c.T1953G	p.D651E	ICYDAFVSYSERDAYWVENLMVQEL	ICYDAFVSYSEREAYWVENLMVQEL	3.0	9.0	unscreened	-	1913_4:154626012-154626012 T>G_ICYDAFVSYSEREAYWVENLMVQEL
3:128753086-128753086 G>A	0.0	1913	MELANOMA	-	-	-	-	EFCC1	ENST00000436022,p.E18K|uc011bkt.2,p.E455K|NM_024768,p.E455K|ENST00000480450,p.E455K	retained_intron, protein_coding	uc011bkt.2	nonsynonymous SNV	exon5	c.G1363A	p.E455K	HFGGANHAHTLGELEACIAMLVEQL	HFGGANHAHTLGKLEACIAMLVEQL	1.0	7.0	unscreened	-	1913_3:128753086-128753086 G>A_HFGGANHAHTLGKLEACIAMLVEQL
7:72744354-72744354 C>T	0.0	1913	MELANOMA	-	-	-	-	FKBP6	ENST00000442793,p.A151V	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000442793	nonsynonymous SNV	exon4	c.C452T	p.A151V	DCAESDKFCALSAALLLLRRRSAPP	DCAESDKFCALSVALLLLRRRSAPP	4.0	5.0	unscreened	-	1913_7:72744354-72744354 C>T_DCAESDKFCALSVALLLLRRRSAPP
4:74306334-74306334 G>A	0.0	1913	MELANOMA	-	-	-	-	AFP	ENST00000226359,p.E96K|uc003hgz.1,p.E96K|NM_001134,p.E96K|ENST00000395792,p.E96K	retained_intron, protein_coding, processed_transcript	uc003hgz.1	nonsynonymous SNV	exon4	c.G286A	p.E96K	SGCLENQLPAFLEELCHEKEILEKY	SGCLENQLPAFLKELCHEKEILEKY	1.0	9.0	unscreened	-	1913_4:74306334-74306334 G>A_SGCLENQLPAFLKELCHEKEILEKY
7:82579048-82579048 G>A	0.0	1913	MELANOMA	-	-	-	-	PCLO	NM_033026,p.S3619F|uc003uhv.2,p.S3619F|ENST00000423517,p.S3619F|uc010lec.3,p.S584F|uc003uhx.2,p.S3619F|NM_014510,p.S3619F|ENST00000437081,p.S339F|ENST00000333891,p.S3619F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lec.3	nonsynonymous SNV	exon1	c.C1751T	p.S584F	DSTVQLAPSPPKSPKVLYSPISPLS	DSTVQLAPSPPKFPKVLYSPISPLS	1.0	6.0	unscreened	-	1913_7:82579048-82579048 G>A_DSTVQLAPSPPKFPKVLYSPISPLS
2:158115894-158115894 G>A	0.0	1913	MELANOMA	-	-	-	-	GALNT5	ENST00000259056,p.D434N|uc002tzg.3,p.D434N|NM_014568,p.D434N	protein_coding, processed_transcript	uc002tzg.3	nonsynonymous SNV	exon1	c.G1300A	p.D434N	QVLRIDVTLSPRDPKAPGQFGRPVV	QVLRIDVTLSPRNPKAPGQFGRPVV	1.0	7.0	unscreened	-	1913_2:158115894-158115894 G>A_QVLRIDVTLSPRNPKAPGQFGRPVV
5:63894254-63894254 A>T	0.0	1913	MELANOMA	-	-	-	-	RGS7BP	uc031sjl.1,p.E91D|NM_001271891,p.E91D	retained_intron, protein_coding, processed_transcript	uc031sjl.1	nonsynonymous SNV	exon3	c.A273T	p.E91D	FKQTQGNYAFTIEKSR	FKQTQGNYAFTIDKSR	1.0	2.0	unscreened	-	1913_5:63894254-63894254 A>T_FKQTQGNYAFTIDKSR
1:145473506-145473506 G>A	1.0	1913	MELANOMA	-	-	-	-	ANKRD34A	ENST00000323397,p.V60I|uc021ouy.1,p.V60I|uc001enq.1,p.V60I|NM_001039888,p.V60I	protein_coding	uc021ouy.1	nonsynonymous SNV	exon1	c.G178A	p.V60I	ARYDDPQNKARMVRYLLEQGADPNI	ARYDDPQNKARMIRYLLEQGADPNI	5.0	3.0	unscreened	-	1913_1:145473506-145473506 G>A_ARYDDPQNKARMIRYLLEQGADPNI
11:46916753-46916753 C>T	0.0	1913	MELANOMA	-	-	-	-	LRP4	uc001ndn.4,p.E425K|NM_002334,p.E425K|ENST00000378623,p.E425K	retained_intron, protein_coding	uc001ndn.4	nonsynonymous SNV	exon11	c.G1273A	p.E425K	EGAFQCWCETGYELRPDRRSCKALG	EGAFQCWCETGYKLRPDRRSCKALG	2.0	2.0	unscreened	-	1913_11:46916753-46916753 C>T_EGAFQCWCETGYKLRPDRRSCKALG
12:13240189-13240189 C>T	0.0	1913	MELANOMA	-	-	ID=COSM226709;OCCURENCE=1(skin)	-	GSG1	NM_001206843,p.G151R|NM_001206845,p.G128R|ENST00000537302,p.G151R|uc001rbm.3,p.G128R|ENST00000396310,p.G148R|uc001rbl.3,p.G151R|ENST00000457134,p.G128R	protein_coding	uc001rbm.3	nonsynonymous SNV	exon4	c.G382A	p.G128R	IELTPPAKRGLLGMVAHMMYSQVFQ	IELTPPAKRGLLRMVAHMMYSQVFQ	1.0	1.0	unscreened	-	1913_12:13240189-13240189 C>T_IELTPPAKRGLLRMVAHMMYSQVFQ
5:35876274-35876274 A>C	0.0	1913	MELANOMA	-	-	-	1	IL7R	uc003jjs.4,p.I356L|ENST00000505875,p.I122L|ENST00000303115,p.I356L|NM_002185,p.I356L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jjs.4	nonsynonymous SNV	exon8	c.A1066C	p.I356L	VQSPNCPSEDVVITPESFGRDSSLT	VQSPNCPSEDVVLTPESFGRDSSLT	2.0	1.0	unscreened	-	1913_5:35876274-35876274 A>C_VQSPNCPSEDVVLTPESFGRDSSLT
1:174418135-174418135 C>T	0.0	1913	MELANOMA	-	-	-	-	GPR52	NM_005684,p.P296S|uc001gka.1,p.P296S|ENST00000367685,p.P296S	protein_coding	uc001gka.1	nonsynonymous SNV	exon1	c.C886T	p.P296S	YFLLESSRVLDNPTLSFLTTWLAIS	YFLLESSRVLDNSTLSFLTTWLAIS	1.0	2.0	unscreened	-	1913_1:174418135-174418135 C>T_YFLLESSRVLDNSTLSFLTTWLAIS
X:3239669-3239669 G>A	0.0	1913	MELANOMA	-	-	-	-	MXRA5	NM_015419,p.P1353S|ENST00000217939,p.P1353S|uc004crg.4,p.P1353S	protein_coding	uc004crg.4	nonsynonymous SNV	exon5	c.C4057T	p.P1353S	ILVTGESITNAIPTSRSLVSTMGEF	ILVTGESITNAISTSRSLVSTMGEF	1.0	9.0	unscreened	-	1913_X:3239669-3239669 G>A_ILVTGESITNAISTSRSLVSTMGEF
1:157556128-157556128 G>A	0.0	1913	MELANOMA	-	-	-	1	FCRL4	uc001fqw.3,p.S322F|ENST00000271532,p.S322F|NM_031282,p.S322F	protein_coding, processed_transcript	uc001fqw.3	nonsynonymous SNV	exon6	c.C965T	p.S322F	CSVAEGTGDTTFSWHREDMQESLGR	CSVAEGTGDTTFFWHREDMQESLGR	1.0	3.0	unscreened	-	1913_1:157556128-157556128 G>A_CSVAEGTGDTTFFWHREDMQESLGR
3:38936332-38936332 A>T	0.0	1913	MELANOMA	-	-	-	-	SCN11A	ENST00000444237,p.F843I|ENST00000456224,p.F843I|ENST00000302328,p.F843I|ENST00000450244,p.F843I|uc021wvy.1,p.F843I|NM_001287223,p.F843I|NM_014139,p.F843I	protein_coding	uc021wvy.1	nonsynonymous SNV	exon15	c.T2527A	p.F843I	KVQLALDRFRRAFCFVRHTLEHFCH	KVQLALDRFRRAICFVRHTLEHFCH	1.0	2.0	unscreened	-	1913_3:38936332-38936332 A>T_KVQLALDRFRRAICFVRHTLEHFCH
2:31588342-31588342 G>A	0.0	1913	MELANOMA	-	-	-	-	XDH	uc002rnv.1,p.P842L|ENST00000379416,p.P842L|NM_000379,p.P842L	protein_coding, processed_transcript	uc002rnv.1	nonsynonymous SNV	exon23	c.C2525T	p.P842L	RDEDMLITGGRHPFLARYKVGFMKT	RDEDMLITGGRHLFLARYKVGFMKT	1.0	4.0	unscreened	-	1913_2:31588342-31588342 G>A_RDEDMLITGGRHLFLARYKVGFMKT
4:75482059-75482059 C>T	0.0	1913	MELANOMA	-	-	-	-	AREG	ENST00000380846,p.P39S|NM_001657,p.P39S	protein_coding, processed_transcript	NM_001657	nonsynonymous SNV	exon2	c.C115T	p.P39S	LDLNDTYSGKREPFSGDHSADGFEV	LDLNDTYSGKRESFSGDHSADGFEV	1.0	9.0	unscreened	-	1913_4:75482059-75482059 C>T_LDLNDTYSGKRESFSGDHSADGFEV
12:4920408-4920408 G>A	0.0	1913	MELANOMA	-	-	ID=COSM3384402;OCCURENCE=1(pancreas)	-	KCNA6	ENST00000433855,p.D401N|NM_002235,p.D401N|uc001qng.3,p.D401N|ENST00000280684,p.D401N|uc021qtr.1,p.D401N	protein_coding	uc021qtr.1	nonsynonymous SNV	exon1	c.G1201A	p.D401N	LFSSAVYFAEADDDDSLFPSIPDAF	LFSSAVYFAEADNDDSLFPSIPDAF	1.0	2.0	unscreened	-	1913_12:4920408-4920408 G>A_LFSSAVYFAEADNDDSLFPSIPDAF
6:138531080-138531080 G>A	0.0	1913	MELANOMA	-	-	-	-	KIAA1244	uc003qhu.3,p.E85K|ENST00000251691,p.E85K|NM_020340,p.E85K	protein_coding	uc003qhu.3	nonsynonymous SNV	exon4	c.G253A	p.E85K	QKLLSEERFVSMETDSDEKQLLNQI	QKLLSEERFVSMKTDSDEKQLLNQI	3.0	1.0	unscreened	-	1913_6:138531080-138531080 G>A_QKLLSEERFVSMKTDSDEKQLLNQI
1:17690053-17690053 C>T	0.0	1913	MELANOMA	-	-	-	-	PADI4	uc001baj.2,p.P599S|NM_012387,p.P599S|ENST00000375448,p.P599S	protein_coding, processed_transcript	uc001baj.2	nonsynonymous SNV	exon16	c.C1795T	p.P599S	VNMLVLGKHLGIPKPFGPVINGRCC	VNMLVLGKHLGISKPFGPVINGRCC	3.0	1.0	unscreened	-	1913_1:17690053-17690053 C>T_VNMLVLGKHLGISKPFGPVINGRCC
7:95221907-95221907 G>T	0.0	1913	MELANOMA	-	-	-	-	PDK4	NM_002612,p.L178I|uc003uoa.3,p.L178I|ENST00000005178,p.L178I	retained_intron, protein_coding	uc003uoa.3	nonsynonymous SNV	exon5	c.C532A	p.L178I	RISTRMLMNQHILIFSDSQTGNPSH	RISTRMLMNQHIIIFSDSQTGNPSH	1.0	4.0	unscreened	-	1913_7:95221907-95221907 G>T_RISTRMLMNQHIIIFSDSQTGNPSH
3:164700075-164700075 C>T	0.0	1913	MELANOMA	-	-	-	-	SI	NM_001041,p.G1791R|ENST00000264382,p.G1791R|uc003fei.3,p.G1791R	retained_intron, protein_coding, nonsense_mediated_decay	uc003fei.3	nonsynonymous SNV	exon47	c.G5371A	p.G1791R	TTPVNAVTLTYNGNKNSLPFNEDTT	TTPVNAVTLTYNRNKNSLPFNEDTT	1.0	6.0	unscreened	-	1913_3:164700075-164700075 C>T_TTPVNAVTLTYNRNKNSLPFNEDTT
3:38793909-38793909 C>T	0.0	1913	MELANOMA	-	-	-	-	SCN10A	NM_001293306,p.G519E|NM_006514,p.G519E|ENST00000449082,p.G519E|uc003ciq.3,p.G519E	protein_coding	uc003ciq.3	nonsynonymous SNV	exon11	c.G1556A	p.G519E	FRSPGRDISLPEGVTDDGVFPGDHE	FRSPGRDISLPEEVTDDGVFPGDHE	1.0	9.0	unscreened	-	1913_3:38793909-38793909 C>T_FRSPGRDISLPEEVTDDGVFPGDHE
7:4949545-4949545 C>T	0.0	1913	MELANOMA	-	-	-	-	MMD2	ENST00000406755,p.M168I|uc010ksq.3,p.M168I|NM_001270375,p.M168I	protein_coding	uc010ksq.3	nonsynonymous SNV	exon6	c.G504A	p.M168I	RYKLVELLCYVVMGFFPALVILSMA	RYKLVELLCYVVIGFFPALVILSMA	1.0	6.0	unscreened	-	1913_7:4949545-4949545 C>T_RYKLVELLCYVVIGFFPALVILSMA
3:16633651-16633651 G>A	0.0	1913	MELANOMA	-	-	-	-	DAZL	uc003cbb.3,p.S247F|NM_001190811,p.S267F|uc003cba.3,p.S267F|ENST00000399444,p.S247F|NM_001351,p.S247F|ENST00000250863,p.S267F	protein_coding	uc003cbb.3	nonsynonymous SNV	exon10	c.C740T	p.S247F	ATPPSGNGPQKKSVDRSIQTVVSCL	ATPPSGNGPQKKFVDRSIQTVVSCL	2.0	2.0	unscreened	-	1913_3:16633651-16633651 G>A_ATPPSGNGPQKKFVDRSIQTVVSCL
2:187712473-187712473 C>T	0.0	1913	MELANOMA	-	-	-	-	ZSWIM2	ENST00000295131,p.G72E|uc002upu.1,p.G72E|NM_182521,p.G72E	protein_coding, nonsense_mediated_decay	uc002upu.1	nonsynonymous SNV	exon2	c.G215A	p.G72E	NPHVCNCSTFPKGGELCKHICWVLL	NPHVCNCSTFPKEGELCKHICWVLL	1.0	5.0	unscreened	-	1913_2:187712473-187712473 C>T_NPHVCNCSTFPKEGELCKHICWVLL
13:46917593-46917593 G>A	1.0	1913	MELANOMA	-	-	-	-	KIAA0226L	ENST00000378797,p.P588S|ENST00000378787,p.P588S|NM_001286762,p.P588S|uc001vbe.4,p.P588S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001vbe.4	nonsynonymous SNV	exon13	c.C1762T	p.P588S	AGLAFTNSASSPPSAPGVRGSQRGE	AGLAFTNSASSPSSAPGVRGSQRGE	5.0	9.0	unscreened	-	1913_13:46917593-46917593 G>A_AGLAFTNSASSPSSAPGVRGSQRGE
5:143586884-143586884 G>A	0.0	1913	MELANOMA	-	-	-	-	KCTD16	uc003lnn.1,p.E203K|ENST00000507359,p.E203K|NM_020768,p.E203K|ENST00000512467,p.E203K|uc003lnm.1,p.E203K	protein_coding	uc003lnn.1	nonsynonymous SNV	exon2	c.G607A	p.E203K	RILVCGRISLAKEVFGETLNESRDP	RILVCGRISLAKKVFGETLNESRDP	1.0	1.0	unscreened	-	1913_5:143586884-143586884 G>A_RILVCGRISLAKKVFGETLNESRDP
19:41387530-41387530 C>T	0.0	1913	MELANOMA	-	-	-	-	CYP2A7	ENST00000301146,p.E103K|NM_000764,p.E103K|uc002opo.3,p.E103K|uc002opm.3,p.E103K	retained_intron, protein_coding, nonsense_mediated_decay	uc002opo.3	nonsynonymous SNV	exon2	c.G307A	p.E103K	LVDQAEEFSGRGEQATFDWVFKGYG	LVDQAEEFSGRGKQATFDWVFKGYG	1.0	5.0	unscreened	-	1913_19:41387530-41387530 C>T_LVDQAEEFSGRGKQATFDWVFKGYG
5:112458417-112458417 G>A	1.0	1913	MELANOMA	-	-	-	-	MCC	NM_001085377,p.P331S|uc011cwb.1,p.P141S|ENST00000515367,p.P78S|ENST00000408903,p.P331S|ENST00000302475,p.P141S|uc010jcd.1,p.P103S|uc003kqj.4,p.P141S|NM_002387,p.P141S|uc003kql.4,p.P331S	retained_intron, protein_coding, processed_transcript	uc011cwb.1	nonsynonymous SNV	exon4	c.C421T	p.P141S	RSMDQDQTSVSIPENQSTMVTADMD	RSMDQDQTSVSISENQSTMVTADMD	6.0	6.0	unscreened	-	1913_5:112458417-112458417 G>A_RSMDQDQTSVSISENQSTMVTADMD
10:28149754-28149754 G>A	0.0	1913	MELANOMA	-	-	-	-	ARMC4	ENST00000545014,p.H466Y|NM_018076,p.H941Y|NM_001290021,p.H466Y|ENST00000305242,p.H941Y|ENST00000537576,p.H633Y|uc010qds.2,p.H466Y|uc010qdt.2,p.H633Y|uc009xky.3,p.H941Y|NM_001290020,p.H941Y|uc001itz.3,p.H941Y	protein_coding, processed_transcript	uc010qdt.2	nonsynonymous SNV	exon14	c.C1897T	p.H633Y	KLANTNNNKLRHHLAEAISRCCMWG	KLANTNNNKLRHYLAEAISRCCMWG	1.0	5.0	unscreened	-	1913_10:28149754-28149754 G>A_KLANTNNNKLRHYLAEAISRCCMWG
10:55721528-55721528 G>C	0.0	1913	MELANOMA	-	-	-	-	PCDH15	NM_001142765,p.P927R|uc021pqz.1,p.P976R|uc010qhz.1,p.P998R|ENST00000361849,p.P998R|NM_001142767,p.P961R|ENST00000395438,p.P998R|uc010qhr.2,p.P998R|ENST00000373965,p.P1005R|ENST00000437009,p.P927R|uc010qib.1,p.P976R|NM_001142768,p.P976R|uc021pqw.1,p.P1010R|ENST00000409834,p.P609R|ENST00000395433,p.P976R|uc021pqx.1,p.P998R|uc010qhw.1,p.P961R|uc021pqv.1,p.P998R|NM_001142763,p.P1003R|uc001jju.1,p.P998R|ENST00000395430,p.P998R|uc021pqy.1,p.P998R|ENST00000414778,p.P1003R|NM_001142773,p.P976R|uc010qhy.1,p.P1003R|ENST00000395445,p.P1005R|uc010qhv.1,p.P998R|uc010qhx.1,p.P927R|NM_001142764,p.P998R|ENST00000320301,p.P998R|uc010qhq.2,p.P1003R|ENST00000395432,p.P961R|uc010qht.2,p.P1005R|uc010qia.1,p.P976R|NM_001142766,p.P998R|NM_033056,p.P998R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqz.1	nonsynonymous SNV	exon20	c.C2927G	p.P976R	GRVITRVNLNEEPTTIFKLVVVAFD	GRVITRVNLNEERTTIFKLVVVAFD	1.0	3.0	unscreened	-	1913_10:55721528-55721528 G>C_GRVITRVNLNEERTTIFKLVVVAFD
11:48347057-48347057 C>T	0.0	1913	MELANOMA	-	-	-	-	OR4C3	NM_001004702,p.L189F|ENST00000319856,p.L189F|uc010rhv.2,p.L189F	protein_coding	uc010rhv.2	nonsynonymous SNV	exon1	c.C565T	p.L189F	GFLHSLVQLLLVLWLPFCGPNVINH	GFLHSLVQLLLVFWLPFCGPNVINH	1.0	5.0	unscreened	-	1913_11:48347057-48347057 C>T_GFLHSLVQLLLVFWLPFCGPNVINH
2:201507346-201507346 G>A	0.0	1913	MELANOMA	-	-	-	-	AOX1	NM_001159,p.G890E|uc010zhf.2,p.G446E|uc010fsu.3,p.G256E|ENST00000374700,p.G890E|uc002uvx.3,p.G890E	retained_intron, protein_coding, processed_transcript	uc010zhf.2	nonsynonymous SNV	exon13	c.G1337A	p.G446E	ASLDESLFVIEMGLLKMDNAYKFPN	ASLDESLFVIEMELLKMDNAYKFPN	1.0	3.0	unscreened	-	1913_2:201507346-201507346 G>A_ASLDESLFVIEMELLKMDNAYKFPN
10:15262955-15262955 G>A	0.0	1913	MELANOMA	-	-	-	-	FAM171A1	NM_001010924,p.P287S|ENST00000378116,p.P287S|uc001iob.3,p.P287S	protein_coding, processed_transcript	uc001iob.3	nonsynonymous SNV	exon6	c.C859T	p.P287S	APQLGYWVAAMSPPIPGPVVTQDIT	APQLGYWVAAMSSPIPGPVVTQDIT	1.0	5.0	unscreened	-	1913_10:15262955-15262955 G>A_APQLGYWVAAMSSPIPGPVVTQDIT
16:76555038-76555038 A>T	0.0	1913	MELANOMA	-	-	-	-	CNTNAP4	ENST00000307431,p.R788S|uc002fev.1,p.R653S|uc002fex.1,p.R792S|NM_138994,p.R716S|ENST00000476707,p.R792S|uc010chb.1,p.R716S|ENST00000478060,p.R716S|ENST00000377504,p.R740S	retained_intron, protein_coding, processed_transcript, TEC	uc010chb.1	nonsynonymous SNV	exon15	c.A2148T	p.R716S	AYKLGPLLCQGDRSFWNSASFDTEA	AYKLGPLLCQGDSSFWNSASFDTEA	2.0	9.0	unscreened	-	1913_16:76555038-76555038 A>T_AYKLGPLLCQGDSSFWNSASFDTEA
12:2786283-2786283 T>C	0.0	1913	MELANOMA	-	-	-	-	CACNA1C	NM_001129836,p.F1635L|NM_001167623,p.F1618L|ENST00000399638,p.F1646L|uc009zdu.1,p.F1666L|uc001qkk.2,p.F1618L|NM_001129841,p.F1618L|uc001qkn.2,p.F1618L|uc001qkm.2,p.F1607L|NM_001167625,p.F1607L|uc001qkt.2,p.F1637L|ENST00000399621,p.F1637L|ENST00000335762,p.F1643L|ENST00000399634,p.F1618L|uc009zdw.1,p.F1659L|NM_001129844,p.F1615L|ENST00000406454,p.F1618L|uc001qks.2,p.F1618L|NM_001129840,p.F1618L|uc010sea.1,p.F309L|ENST00000399637,p.F1637L|NM_001129827,p.F1666L|NM_001129838,p.F1626L|NM_001129839,p.F1624L|NM_001129835,p.F1637L|NM_001129830,p.F1618L|ENST00000399641,p.F1618L|ENST00000399603,p.F1618L|uc001qjz.2,p.F1618L|NM_001129843,p.F1618L|uc001qkc.2,p.F1637L|uc001qku.2,p.F1618L|ENST00000402845,p.F1637L|NM_001129837,p.F1626L|uc001qko.2,p.F1638L|NM_001129834,p.F1637L|uc001qkd.2,p.F1637L|NM_001167624,p.F1618L|uc001qkr.2,p.F1635L|uc001qkg.2,p.F1624L|NM_000719,p.F1618L|uc001qkf.2,p.F1626L|ENST00000399649,p.F1624L|ENST00000399606,p.F1638L|ENST00000399595,p.F1626L|ENST00000399617,p.F1618L|uc001qkb.2,p.F1618L|uc001qkj.2,p.F1618L|NM_199460,p.F1666L|NM_001129832,p.F1638L|ENST00000344100,p.F1659L|uc001qkl.2,p.F1666L|uc009zdv.1,p.F1615L|ENST00000399655,p.F1618L|NM_001129846,p.F1607L|ENST00000399644,p.F1618L|uc001qki.1,p.F1354L|uc001qkq.2,p.F1646L|ENST00000399597,p.F1618L|uc001qkp.2,p.F1618L|ENST00000399629,p.F1635L|ENST00000327702,p.F1618L|uc001qke.2,p.F1607L|NM_001129833,p.F1637L|ENST00000399601,p.F1618L|ENST00000399591,p.F1626L|ENST00000347598,p.F1666L|NM_001129831,p.F1646L|uc001qkh.2,p.F1626L|NM_001129829,p.F1659L|NM_001129842,p.F1618L	retained_intron, protein_coding, processed_transcript	uc010sea.1	nonsynonymous SNV	exon10	c.T925C	p.F309L	PPAGDDEVTVGKFYATFLIQEYFRK	PPAGDDEVTVGKLYATFLIQEYFRK	1.0	1.0	unscreened	-	1913_12:2786283-2786283 T>C_PPAGDDEVTVGKLYATFLIQEYFRK
3:183217608-183217608 G>A	0.0	1913	MELANOMA	-	-	ID=COSM282288;OCCURENCE=1(large_intestine),1(endometrium)	-	KLHL6	ENST00000341319,p.S306L|uc003flr.3,p.S306L|ENST00000468734,p.S295L|NM_130446,p.S306L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003flr.3	nonsynonymous SNV	exon4	c.C917T	p.S306L	ARMYHLSGNEIISERTKPRMHEFQS	ARMYHLSGNEIILERTKPRMHEFQS	1.0	1.0	unscreened	-	1913_3:183217608-183217608 G>A_ARMYHLSGNEIILERTKPRMHEFQS
6:86259526-86259526 T>C	1.0	1913	MELANOMA	-	-	-	-	SNX14	ENST00000346348,p.S192G|uc003pkp.3,p.S99G|ENST00000505648,p.S184G|ENST00000314673,p.S236G|ENST00000369627,p.S236G|NM_020468,p.S192G|uc003pks.3,p.S192G|NM_153816,p.S236G|NM_001297614,p.S236G|ENST00000513865,p.S236G|uc011dzg.2,p.S184G|uc003pkt.3,p.S236G|ENST00000515216,p.S163G|uc003pkr.3,p.S236G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dzg.2	nonsynonymous SNV	exon8	c.A550G	p.S184G	EEYGPELHVALRSRRDELHYLRKLT	EEYGPELHVALRGRRDELHYLRKLT	9.0	7.0	unscreened	-	1913_6:86259526-86259526 T>C_EEYGPELHVALRGRRDELHYLRKLT
17:48917727-48917727 C>T	0.0	1913	MELANOMA	-	-	-	-	WFIKKN2	uc002isv.4,p.H360Y|NM_175575,p.H360Y|ENST00000426127,p.H267Y|uc010dbu.3,p.H267Y|ENST00000311378,p.H360Y	protein_coding	uc010dbu.3	nonsynonymous SNV	exon2	c.C799T	p.H267Y	AQANNCLTFTFGHCHRNLNHFETYE	AQANNCLTFTFGYCHRNLNHFETYE	1.0	5.0	unscreened	-	1913_17:48917727-48917727 C>T_AQANNCLTFTFGYCHRNLNHFETYE
17:80963052-80963052 T>C	1.0	1913	MELANOMA	-	-	-	-	B3GNTL1	ENST00000576599,p.N37S|uc002kgf.1,p.N37S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kgf.1	nonsynonymous SNV	exon6	c.A110G	p.N37S	EIIGCRVRRDPPNSTERYTRWINQL	EIIGCRVRRDPPSSTERYTRWINQL	8.0	5.0	unscreened	-	1913_17:80963052-80963052 T>C_EIIGCRVRRDPPSSTERYTRWINQL
17:80963052-80963052 T>C	1.0	1913	MELANOMA	-	-	-	-	B3GNTL1	NM_001009905,p.N148S|ENST00000320865,p.N148S|uc002kgg.1,p.N148S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kgg.1	nonsynonymous SNV	exon6	c.A443G	p.N148S	SIIGCRVRRDPPNSTERYTRWINQL	SIIGCRVRRDPPSSTERYTRWINQL	8.0	5.0	unscreened	-	1913_17:80963052-80963052 T>C_SIIGCRVRRDPPSSTERYTRWINQL
11:63138672-63138672 G>A	0.0	1913	MELANOMA	-	-	-	-	SLC22A9	ENST00000536333,p.M156I|ENST00000279178,p.M156I|NM_080866,p.M156I|ENST00000310969,p.M156I|uc001nww.3,p.M156I	protein_coding, nonsense_mediated_decay	uc001nww.3	nonsynonymous SNV	exon2	c.G468A	p.M156I	LTSVAKFVFMAGMMVGGILGGHLSD	LTSVAKFVFMAGIMVGGILGGHLSD	1.0	2.0	unscreened	-	1913_11:63138672-63138672 G>A_LTSVAKFVFMAGIMVGGILGGHLSD
10:71332291-71332291 C>T	0.0	1913	MELANOMA	-	-	-	-	NEUROG3	uc021pry.1,p.G170E|ENST00000242462,p.G170E|uc001jpp.3,p.G170E|NM_020999,p.G170E	protein_coding	uc021pry.1	nonsynonymous SNV	exon1	c.G509A	p.G170E	ELGSPGGSPGDWGSLYSPVSQAGSL	ELGSPGGSPGDWESLYSPVSQAGSL	1.0	8.0	unscreened	-	1913_10:71332291-71332291 C>T_ELGSPGGSPGDWESLYSPVSQAGSL
16:3085387-3085387 G>T	0.0	1913	MELANOMA	-	-	-	-	CCDC64B	uc002ctf.4,p.F37L|ENST00000572449,p.F37L|NM_001103175,p.F37L|ENST00000389347,p.F37L	retained_intron, protein_coding	uc002ctf.4	nonsynonymous SNV	exon1	c.C111A	p.F37L	GFFPFVLERRDSFLGGGPGPEEPED	GFFPFVLERRDSLLGGGPGPEEPED	1.0	9.0	unscreened	-	1913_16:3085387-3085387 G>T_GFFPFVLERRDSLLGGGPGPEEPED
6:6318867-6318867 C>A	0.0	1913	MELANOMA	-	-	-	-	F13A1	ENST00000431222,p.G65C	retained_intron, protein_coding	ENST00000431222	nonsynonymous SNV	exon3	c.G193T	p.G65C	SKMSETSRTAFGGRRAVPPNNSNAA	SKMSETSRTAFGCRRAVPPNNSNAA	1.0	1.0	unscreened	-	1913_6:6318867-6318867 C>A_SKMSETSRTAFGCRRAVPPNNSNAA
6:49754261-49754261 C>T	0.0	1913	MELANOMA	-	-	-	-	PGK2	ENST00000304801,p.G214R|uc003ozu.3,p.G214R|NM_138733,p.G214R	protein_coding	uc003ozu.3	nonsynonymous SNV	exon1	c.G640A	p.G214R	ENPVRPFLAILGGAKVADKIQLIKN	ENPVRPFLAILGRAKVADKIQLIKN	1.0	9.0	unscreened	-	1913_6:49754261-49754261 C>T_ENPVRPFLAILGRAKVADKIQLIKN
10:6470206-6470206 G>A	0.0	1913	MELANOMA	-	-	-	-	PRKCQ	ENST00000263125,p.S695F|ENST00000397176,p.S632F|NM_001282644,p.S659F|uc009xin.2,p.S659F|uc001ijj.2,p.S695F|uc009xim.2,p.S632F|uc010qax.2,p.S570F|NM_001242413,p.S632F|ENST00000539722,p.S570F|NM_001282645,p.S570F|uc001iji.1,p.S728F|NM_006257,p.S695F	protein_coding	uc010qax.2	nonsynonymous SNV	exon17	c.C1709T	p.S570F	INSMDQNMFRNFSFMNPGMERLIS	INSMDQNMFRNFFFMNPGMERLIS	1.0	4.0	unscreened	-	1913_10:6470206-6470206 G>A_INSMDQNMFRNFFFMNPGMERLIS
1:211093132-211093132 C>G	1.0	1913	MELANOMA	-	-	-	-	KCNH1	NM_002238,p.G411R|ENST00000367007,p.G411R|ENST00000271751,p.G438R|uc001hib.2,p.G438R|uc001hic.2,p.G411R|NM_172362,p.G438R	protein_coding	uc001hic.2	nonsynonymous SNV	exon7	c.G1231C	p.G411R	IGTPYQFNGSGSGKWEGGPSKNSVY	IGTPYQFNGSGSRKWEGGPSKNSVY	4.0	1.0	unscreened	-	1913_1:211093132-211093132 C>G_IGTPYQFNGSGSRKWEGGPSKNSVY
X:3241051-3241051 G>A	0.0	1913	MELANOMA	-	-	-	-	MXRA5	NM_015419,p.S892F|ENST00000217939,p.S892F|uc004crg.4,p.S892F	protein_coding	uc004crg.4	nonsynonymous SNV	exon5	c.C2675T	p.S892F	TSTPLEEVVDDLSEKTEEITSTEGD	TSTPLEEVVDDLFEKTEEITSTEGD	1.0	9.0	unscreened	-	1913_X:3241051-3241051 G>A_TSTPLEEVVDDLFEKTEEITSTEGD
19:44384237-44384237 C>T	0.0	1913	MELANOMA	-	-	-	-	ZNF404	NM_001033719,p.E18K	protein_coding, processed_transcript	NM_001033719	nonsynonymous SNV	exon1	c.G52A	p.E18K	LTFSDVAIDFSQEEWEYLNSDQRDL	LTFSDVAIDFSQKEWEYLNSDQRDL	5.0	4.0	unscreened	-	1913_19:44384237-44384237 C>T_LTFSDVAIDFSQKEWEYLNSDQRDL
2:37265141-37265141 G>A	1.0	1913	MELANOMA	-	-	ID=COSM3581410;OCCURENCE=1(large_intestine)	-	HEATR5B	ENST00000233099,p.R1025C|NM_019024,p.R1025C|ENST00000354531,p.R1025C|uc002rpp.1,p.R1025C	retained_intron, protein_coding	uc002rpp.1	nonsynonymous SNV	exon21	c.C3073T	p.R1025C	ELQGNGATTSTIRSSCLVGCAITQD	ELQGNGATTSTICSSCLVGCAITQD	7.0	8.0	unscreened	-	1913_2:37265141-37265141 G>A_ELQGNGATTSTICSSCLVGCAITQD
12:6729445-6729445 C>T	0.0	1913	MELANOMA	-	-	-	-	LPAR5	ENST00000431922,p.G324R|NM_020400,p.G324R|uc021qub.1,p.G324R|ENST00000329858,p.G324R|uc001qps.2,p.G324R|uc010sff.1,p.G324R|NM_001142961,p.G324R|uc009zer.2,p.G324R	protein_coding, processed_transcript	uc021qub.1	nonsynonymous SNV	exon1	c.G970A	p.G324R	GTPHRARTSATNGTRAALAQSERSA	GTPHRARTSATNRTRAALAQSERSA	1.0	1.0	unscreened	-	1913_12:6729445-6729445 C>T_GTPHRARTSATNRTRAALAQSERSA
12:41831778-41831778 G>A	0.0	1913	MELANOMA	-	-	-	-	PDZRN4	ENST00000539469,p.R11K|uc001rmq.4,p.R11K|NM_013377,p.R11K	retained_intron, protein_coding	uc001rmq.4	nonsynonymous SNV	exon1	c.G32A	p.R11K	MGCNLCTFQKREEHYKLLYEVSQ	MGCNLCTFQKKEEHYKLLYEVSQ	1.0	2.0	unscreened	-	1913_12:41831778-41831778 G>A_MGCNLCTFQKKEEHYKLLYEVSQ
7:122634952-122634952 G>A	0.0	1913	MELANOMA	-	-	-	-	TAS2R16	NM_016945,p.T246I|uc003vkl.1,p.T246I|ENST00000249284,p.T246I	protein_coding	uc003vkl.1	nonsynonymous SNV	exon1	c.C737T	p.T246I	IVFTSYFLTILITIIGTLFDKRCWL	IVFTSYFLTILIIIIGTLFDKRCWL	1.0	5.0	unscreened	-	1913_7:122634952-122634952 G>A_IVFTSYFLTILIIIIGTLFDKRCWL
3:186395557-186395557 C>T	0.0	1913	MELANOMA	-	-	-	-	HRG	uc003fqq.3,p.P488L|ENST00000232003,p.P488L|NM_000412,p.P488L	retained_intron, protein_coding, processed_transcript	uc003fqq.3	nonsynonymous SNV	exon7	c.C1463T	p.P488L	NFPSFPLPHHKHPLKPDNQPFPQSV	NFPSFPLPHHKHLLKPDNQPFPQSV	1.0	2.0	unscreened	-	1913_3:186395557-186395557 C>T_NFPSFPLPHHKHLLKPDNQPFPQSV
X:84526400-84526400 C>T	0.0	1913	MELANOMA	-	-	-	-	ZNF711	ENST00000395402,p.P626S|ENST00000542798,p.P460S|uc004eeq.3,p.P664S|uc011mqy.1,p.P217S|NM_021998,p.P618S|ENST00000360700,p.P664S|ENST00000276123,p.P618S|ENST00000373165,p.P618S|uc004eep.3,p.P618S|uc004eeo.3,p.P618S	protein_coding	uc011mqy.1	nonsynonymous SNV	exon3	c.C649T	p.P217S	KRHIISVHTKDFPHKCEVCDKGFHR	KRHIISVHTKDFSHKCEVCDKGFHR	1.0	9.0	unscreened	-	1913_X:84526400-84526400 C>T_KRHIISVHTKDFSHKCEVCDKGFHR
2:18768783-18768783 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1013869;OCCURENCE=1(endometrium),1(large_intestine),1(oesophagus)	-	NT5C1B,NT5C1B-RDH14	uc010exs.3,p.R36C|ENST00000359846,p.R36C|uc010yjv.2,p.R36C|ENST00000416783,p.R36C|ENST00000532967,p.R36C|NM_001199087,p.R36C|NM_001199104,p.R36C|uc002rcy.3,p.R36C|NM_001002006,p.R36C|NM_001199088,p.R36C|ENST00000600945,p.R36C|uc002rcz.3,p.R36C	 nonsense_mediated_decay, protein_coding,protein_coding, processed_transcript,retained_intron	uc010yjv.2	nonsynonymous SNV	exon2	c.C106T	p.R36C	AEKRKESDKTGVRLSNQMRRAVNPN	AEKRKESDKTGVCLSNQMRRAVNPN	1.0	9.0	unscreened	-	1913_2:18768783-18768783 G>A_AEKRKESDKTGVCLSNQMRRAVNPN
3:193052814-193052814 C>T	0.0	1913	MELANOMA	-	-	-	-	ATP13A5	NM_198505,p.E340K|ENST00000342358,p.E340K|uc011bsq.2,p.E340K	retained_intron, protein_coding, processed_transcript	uc011bsq.2	nonsynonymous SNV	exon10	c.G1018A	p.E340K	MENTMPWKCHSLEDYRKHVLFCGTE	MENTMPWKCHSLKDYRKHVLFCGTE	1.0	8.0	unscreened	-	1913_3:193052814-193052814 C>T_MENTMPWKCHSLKDYRKHVLFCGTE
8:24242028-24242028 G>A	0.0	1913	MELANOMA	-	-	-	-	ADAMDEC1	ENST00000256412,p.G4E|ENST00000520193,p.G4E|NM_014479,p.G4E|uc003xdz.2,p.G4E	protein_coding, processed_transcript, nonsense_mediated_decay	uc003xdz.2	nonsynonymous SNV	exon1	c.G11A	p.G4E	MLRGISQLPAVATMSW	MLREISQLPAVATMSW	1.0	7.0	unscreened	-	1913_8:24242028-24242028 G>A_MLREISQLPAVATMSW
19:54746180-54746180 A>T	0.0	1913	MELANOMA	-	-	-	-	LILRA6,LILRB3	NM_006864,p.F26Y|NM_001081450,p.F26Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	NM_006864	nonsynonymous SNV	exon3	c.T77A	p.F26Y	SLGPRTRMQAGPFPKPTLWAEPGSV	SLGPRTRMQAGPYPKPTLWAEPGSV	4.0	1.0	unscreened	-	1913_19:54746180-54746180 A>T_SLGPRTRMQAGPYPKPTLWAEPGSV
5:13735359-13735359 T>C	0.0	1913	MELANOMA	-	-	-	-	DNAH5	ENST00000265104,p.K3881R|uc003jfd.2,p.K3881R|NM_001369,p.K3881R|uc003jfc.2,p.K49R	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon68	c.A11642G	p.K3881R	ANIIEHMTYEVYKYAARGLYEEHKF	ANIIEHMTYEVYRYAARGLYEEHKF	1.0	8.0	unscreened	-	1913_5:13735359-13735359 T>C_ANIIEHMTYEVYRYAARGLYEEHKF
8:110457569-110457569 G>A	0.0	1913	MELANOMA	-	-	-	-	PKHD1L1	uc003yne.3,p.G1824E|NM_177531,p.G1824E|ENST00000378402,p.G1824E	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon38	c.G5471A	p.G1824E	VSVVVGSKGLALGNLTVSSPPVASL	VSVVVGSKGLALENLTVSSPPVASL	1.0	7.0	unscreened	-	1913_8:110457569-110457569 G>A_VSVVVGSKGLALENLTVSSPPVASL
17:10406346-10406346 C>T	0.0	1913	MELANOMA	-	-	-	-	MYH1	ENST00000226207,p.E971K|uc002gmo.3,p.E971K|NM_005963,p.E971K	protein_coding	uc002gmo.3	nonsynonymous SNV	exon23	c.G2911A	p.E971K	DDLELTLAKVEKEKHATENKVKNLT	DDLELTLAKVEKKKHATENKVKNLT	1.0	5.0	unscreened	-	1913_17:10406346-10406346 C>T_DDLELTLAKVEKKKHATENKVKNLT
2:178684947-178684947 C>T	0.0	1913	MELANOMA	-	-	-	-	PDE11A	uc002ult.1,p.G276R|ENST00000449286,p.G168R|NM_001077358,p.G168R|ENST00000286063,p.G526R|NM_016953,p.G526R|ENST00000409504,p.G168R|uc002ulu.1,p.G168R|NM_001077196,p.G82R|uc002ulr.3,p.G276R|uc002ulq.3,p.G526R|NM_001077197,p.G276R|ENST00000389683,p.G82R|ENST00000358450,p.G276R|uc002ulp.3,p.G82R|uc002uls.1,p.G168R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ulu.1	nonsynonymous SNV	exon6	c.G502A	p.G168R	CVPIWNSNHQIIGVAQVLNRLDGKP	CVPIWNSNHQIIRVAQVLNRLDGKP	1.0	4.0	unscreened	-	1913_2:178684947-178684947 C>T_CVPIWNSNHQIIRVAQVLNRLDGKP
19:58132751-58132751 C>T	1.0	1913	MELANOMA	-	-	-	-	ZNF134	ENST00000396161,p.H422Y|uc002qpo.2,p.H249Y|uc002qpn.2,p.H422Y|NM_003435,p.H422Y	protein_coding, processed_transcript	uc002qpo.2	nonsynonymous SNV	exon2	c.C745T	p.H249Y	SLSSHLNRHQKVHTAGRL	SLSSHLNRHQKVYTAGRL	5.0	4.0	unscreened	-	1913_19:58132751-58132751 C>T_SLSSHLNRHQKVYTAGRL
6:117113464-117113464 C>T	0.0	1913	MELANOMA	-	-	-	-	GPRC6A	ENST00000368549,p.M803I|ENST00000530250,p.M699I|NM_148963,p.M874I|ENST00000310357,p.M874I|uc003pxl.1,p.M803I|NM_001286354,p.M699I|NM_001286355,p.M803I|uc003pxk.1,p.M699I|uc003pxj.1,p.M874I	protein_coding	uc003pxl.1	nonsynonymous SNV	exon5	c.G2409A	p.M803I	SSIALSPASLDSMSGNVTMTNPSSS	SSIALSPASLDSISGNVTMTNPSSS	1.0	9.0	unscreened	-	1913_6:117113464-117113464 C>T_SSIALSPASLDSISGNVTMTNPSSS
10:95556983-95556983 G>A	0.0	1913	MELANOMA	-	-	-	-	LGI1	NM_005097,p.G366E|uc010qnv.2,p.G318E|uc001kjc.4,p.G366E|ENST00000542308,p.G318E|ENST00000371418,p.G366E	protein_coding, processed_transcript	uc010qnv.2	nonsynonymous SNV	exon6	c.G953A	p.G318E	AGFTTIYKWNGNGFYSHQSLHAWYR	AGFTTIYKWNGNEFYSHQSLHAWYR	1.0	4.0	unscreened	-	1913_10:95556983-95556983 G>A_AGFTTIYKWNGNEFYSHQSLHAWYR
17:12626232-12626232 C>T	0.0	1913	MELANOMA	-	-	-	-	MYOCD	ENST00000343344,p.L108F|NM_001146312,p.L108F|uc002gno.2,p.L108F|uc002gnn.2,p.L108F|ENST00000425538,p.L108F|NM_153604,p.L108F	protein_coding, nonsense_mediated_decay	uc002gno.2	nonsynonymous SNV	exon5	c.C322T	p.L108F	QMKLKRARLADDLNEKIALRPGPLE	QMKLKRARLADDFNEKIALRPGPLE	1.0	4.0	unscreened	-	1913_17:12626232-12626232 C>T_QMKLKRARLADDFNEKIALRPGPLE
3:164756912-164756912 G>A	0.0	1913	MELANOMA	-	-	-	-	SI	uc003fei.3,p.T752I|NM_001041,p.T752I|ENST00000264382,p.T752I	retained_intron, protein_coding, nonsense_mediated_decay	uc003fei.3	nonsynonymous SNV	exon20	c.C2255T	p.T752I	LLITPVLKQGADTVSAYIPDAIWYD	LLITPVLKQGADIVSAYIPDAIWYD	1.0	9.0	unscreened	-	1913_3:164756912-164756912 G>A_LLITPVLKQGADIVSAYIPDAIWYD
X:27998426-27998426 C>T	0.0	1913	MELANOMA	-	-	-	-	DCAF8L1	uc004dbx.1,p.M342I|NM_001017930,p.M342I|ENST00000441525,p.M342I	protein_coding	uc004dbx.1	nonsynonymous SNV	exon1	c.G1026A	p.M342I	ENDKKVGLYTISMNPANIYQFAVGG	ENDKKVGLYTISINPANIYQFAVGG	1.0	9.0	unscreened	-	1913_X:27998426-27998426 C>T_ENDKKVGLYTISINPANIYQFAVGG
13:29608116-29608116 A>G	0.0	1913	MELANOMA	-	-	-	-	MTUS2	NM_001033602,p.K777R|uc001usl.4,p.K777R|ENST00000431530,p.K777R	retained_intron, protein_coding, processed_transcript	uc001usl.4	nonsynonymous SNV	exon2	c.A2330G	p.K777R	VPPTFYRSAMLLKPQLGLGAMSRLP	VPPTFYRSAMLLRPQLGLGAMSRLP	1.0	9.0	unscreened	-	1913_13:29608116-29608116 A>G_VPPTFYRSAMLLRPQLGLGAMSRLP
X:142967218-142967218 C>T	0.0	1913	MELANOMA	-	-	-	-	UBE2NL	NM_001012989,p.H6Y|uc004fca.3,p.H6Y|ENST00000370494,p.H6Y	protein_coding	uc004fca.3	nonsynonymous SNV	exon1	c.C16T	p.H6Y	MAELPHRIIKETQRLLAE	MAELPYRIIKETQRLLAE	1.0	9.0	unscreened	-	1913_X:142967218-142967218 C>T_MAELPYRIIKETQRLLAE
6:51890739-51890739 C>T	0.0	1913	MELANOMA	-	-	-	-	PKHD1	uc003pai.3,p.G1290D|uc003pah.1,p.G1290D|ENST00000371117,p.G1290D|NM_138694,p.G1290D|NM_170724,p.G1290D|ENST00000340994,p.G1290D	protein_coding	uc003pai.3	nonsynonymous SNV	exon32	c.G3869A	p.G1290D	FARGPSPSLVGKGFTFMYEAAATPV	FARGPSPSLVGKDFTFMYEAAATPV	1.0	9.0	unscreened	-	1913_6:51890739-51890739 C>T_FARGPSPSLVGKDFTFMYEAAATPV
12:51584263-51584263 C>T	0.0	1913	MELANOMA	-	-	-	-	POU6F1	NM_002702,p.E225K|ENST00000550824,p.E225K|uc001rya.3,p.E225K|uc001rxz.3,p.E225K|ENST00000333640,p.E225K|ENST00000389243,p.E225K|uc001rxy.3,p.E225K	protein_coding, processed_transcript	uc001rya.3	nonsynonymous SNV	exon11	c.G673A	p.E225K	ELRNQEGQQNLMEFVGGEPSKKRKR	ELRNQEGQQNLMKFVGGEPSKKRKR	6.0	2.0	unscreened	-	1913_12:51584263-51584263 C>T_ELRNQEGQQNLMKFVGGEPSKKRKR
2:189899685-189899685 C>T	1.0	1913	MELANOMA	-	-	-	-	COL5A2	ENST00000374866,p.G1437E|NM_000393,p.G1437E|uc002uqk.3,p.G1437E|uc010frx.3,p.G1013E	retained_intron, protein_coding	uc010frx.3	nonsynonymous SNV	exon37	c.G3038A	p.G1013E	LKGANDLDIKAEGNIRFRYIVLQDT	LKGANDLDIKAEENIRFRYIVLQDT	10.0	5.0	unscreened	-	1913_2:189899685-189899685 C>T_LKGANDLDIKAEENIRFRYIVLQDT
11:117308108-117308108 C>T	0.0	1913	MELANOMA	-	-	-	-	DSCAML1	uc001prh.1,p.D1544N|ENST00000527706,p.D1274N|ENST00000321322,p.D1544N|NM_020693,p.D1544N	protein_coding	uc001prh.1	nonsynonymous SNV	exon26	c.G4630A	p.D1544N	AKTHGREPSFSKDQHLFTHINSTHA	AKTHGREPSFSKNQHLFTHINSTHA	1.0	9.0	unscreened	-	1913_11:117308108-117308108 C>T_AKTHGREPSFSKNQHLFTHINSTHA
X:110574222-110574222 C>T	0.0	1913	MELANOMA	-	-	-	-	DCX	uc011msv.2,p.A367T|ENST00000338081,p.A367T|ENST00000488120,p.A286T|uc004epf.3,p.A286T|ENST00000371993,p.A286T|NM_001195553,p.A286T|ENST00000356220,p.A286T|uc004epg.3,p.A286T|ENST00000356915,p.A286T|NM_178153,p.A286T|NM_178151,p.A286T|NM_178152,p.A286T|uc004epe.3,p.A286T|NM_000555,p.A367T|uc004epd.3,p.A367T	protein_coding, processed_transcript	uc011msv.2	nonsynonymous SNV	exon5	c.G1099A	p.A367T	MKGNPSATAGPKASPTPQKTSAKSP	MKGNPSATAGPKTSPTPQKTSAKSP	1.0	9.0	unscreened	-	1913_X:110574222-110574222 C>T_MKGNPSATAGPKTSPTPQKTSAKSP
19:13335576-13335576 C>T	0.0	1913	MELANOMA	-	-	-	-	CACNA1A	ENST00000360228,p.R1879Q|uc002mwy.3,p.R1879Q|uc002mwx.3,p.R585Q|ENST00000585802,p.R565Q|NM_001127222,p.R1879Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mwy.3	nonsynonymous SNV	exon38	c.G5636A	p.R1879Q	KCPARVAYKRLLRMDLPVADDNTVH	KCPARVAYKRLLQMDLPVADDNTVH	1.0	7.0	unscreened	-	1913_19:13335576-13335576 C>T_KCPARVAYKRLLQMDLPVADDNTVH
5:38881696-38881696 G>A	0.0	1913	MELANOMA	-	-	-	-	OSMR	uc003jln.2,p.G83E|NM_001168355,p.G83E|ENST00000274276,p.G83E|NM_003999,p.G83E|uc003jlm.2,p.G83E|ENST00000502536,p.G83E	protein_coding, nonsense_mediated_decay	uc003jln.2	nonsynonymous SNV	exon4	c.G248A	p.G83E	ISRIETSNVIWVGNYSTTVKWNQVL	ISRIETSNVIWVENYSTTVKWNQVL	1.0	7.0	unscreened	-	1913_5:38881696-38881696 G>A_ISRIETSNVIWVENYSTTVKWNQVL
19:22940691-22940691 C>T	0.0	1913	MELANOMA	-	-	-	-	ZNF99	NM_001080409,p.E674K|ENST00000397104,p.E583K|ENST00000596209,p.E674K|uc021urt.1,p.E674K	protein_coding	uc021urt.1	nonsynonymous SNV	exon4	c.G2020A	p.E674K	SHLTRHKVIHTEEKPYKCEECGKAF	SHLTRHKVIHTEKKPYKCEECGKAF	1.0	3.0	unscreened	-	1913_19:22940691-22940691 C>T_SHLTRHKVIHTEKKPYKCEECGKAF
11:58170558-58170558 C>T	0.0	1913	MELANOMA	-	-	-	-	OR5B3	NM_001005469,p.E109K|ENST00000309403,p.E109K|uc010rkf.2,p.E109K	protein_coding	uc010rkf.2	nonsynonymous SNV	exon1	c.G325A	p.E109K	AQMYIFVAFATVENYLLASMAYDRY	AQMYIFVAFATVKNYLLASMAYDRY	1.0	7.0	unscreened	-	1913_11:58170558-58170558 C>T_AQMYIFVAFATVKNYLLASMAYDRY
2:179438024-179438024 C>T	0.0	1913	MELANOMA	-	-	-	-	TTN	uc021vta.2,p.D15339N|uc021vsz.2,p.D15406N|NM_133378,p.D21711N|NM_133432,p.D15339N|uc031rqc.1,p.D24279N|ENST00000342992,p.D21711N|NM_133437,p.D15406N|ENST00000359218,p.D15339N|NM_001267550,p.D24279N|uc021vsy.2,p.D21711N|ENST00000342175,p.D15406N|NM_001256850,p.D22638N|ENST00000591111,p.D22638N|uc021vtb.2,p.D15214N|ENST00000589042,p.D24279N|uc031rqd.1,p.D22638N|ENST00000460472,p.D15214N|NM_003319,p.D15214N	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon276	c.G67912A	p.D22638N	QRWIKCNKKTLTDLRYKVSGLTEGH	QRWIKCNKKTLTNLRYKVSGLTEGH	2.0	5.0	unscreened	-	1913_2:179438024-179438024 C>T_QRWIKCNKKTLTNLRYKVSGLTEGH
16:9858184-9858184 C>T	0.0	1913	MELANOMA	-	-	ID=COSM110485;OCCURENCE=2(skin)	1	GRIN2A	ENST00000396575,p.E1073K|uc002czo.4,p.E1073K|uc010uym.2,p.E1073K|NM_000833,p.E1073K|ENST00000562109,p.E1073K|uc002czr.4,p.E1073K|ENST00000535259,p.E916K|ENST00000404927,p.E1073K|uc010uyn.2,p.E916K|NM_001134407,p.E1073K|ENST00000396573,p.E1073K|NM_001134408,p.E1073K|ENST00000330684,p.E1073K	retained_intron, protein_coding, processed_transcript	uc010uyn.2	nonsynonymous SNV	exon12	c.G2746A	p.E916K	ISETSNRATCHREPDNSKNHKTKDN	ISETSNRATCHRKPDNSKNHKTKDN	1.0	2.0	unscreened	-	1913_16:9858184-9858184 C>T_ISETSNRATCHRKPDNSKNHKTKDN
16:82131847-82131847 G>A	0.0	1913	MELANOMA	-	-	-	-	HSD17B2	NM_002153,p.D324N|ENST00000199936,p.D324N|ENST00000568090,p.D188N|uc002fgv.3,p.D324N	protein_coding, TEC	uc002fgv.3	nonsynonymous SNV	exon5	c.G970A	p.D324N	SLASKDFSPVLRDIQHAILAKSPFA	SLASKDFSPVLRNIQHAILAKSPFA	2.0	8.0	unscreened	-	1913_16:82131847-82131847 G>A_SLASKDFSPVLRNIQHAILAKSPFA
8:17579319-17579319 G>A	0.0	1913	MELANOMA	-	-	-	-	MTUS1	ENST00000381861,p.S31L|uc003wxt.3,p.S31L|NM_001001931,p.S31L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003wxt.3	nonsynonymous SNV	exon1	c.C92T	p.S31L	IFINSTLTPPAGSERHYDATLLTLL	IFINSTLTPPAGLERHYDATLLTLL	4.0	5.0	unscreened	-	1913_8:17579319-17579319 G>A_IFINSTLTPPAGLERHYDATLLTLL
2:33783349-33783349 C>T	0.0	1913	MELANOMA	-	-	-	-	RASGRP3	NM_001139488,p.P551S|NM_015376,p.P550S|uc010ync.2,p.P551S|ENST00000403687,p.P551S|uc002rox.3,p.P551S|ENST00000407811,p.P550S|ENST00000402538,p.P551S|NM_170672,p.P551S|uc002roy.3,p.P550S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ync.2	nonsynonymous SNV	exon16	c.C1651T	p.P551S	LLVLACRRFARAPSLSSGHGSLPGS	LLVLACRRFARASSLSSGHGSLPGS	1.0	6.0	unscreened	-	1913_2:33783349-33783349 C>T_LLVLACRRFARASSLSSGHGSLPGS
13:52718906-52718906 G>A	1.0	1913	MELANOMA	-	-	-	-	NEK3	ENST00000339406,p.P242S|uc001vgh.3,p.P263S|uc001vgi.3,p.P242S|NM_152720,p.P242S|ENST00000258597,p.P242S|ENST00000452082,p.P263S|ENST00000548127,p.P242S|NM_002498,p.P242S|NM_001146099,p.P242S|uc010tgy.2,p.P242S|ENST00000400357,p.P242S|ENST00000378101,p.P242S	retained_intron, protein_coding, nonsense_mediated_decay	uc010tgy.2	nonsynonymous SNV	exon9	c.C724T	p.P242S	LQFLVKQMFKRNPSHRPSATTLLSR	LQFLVKQMFKRNSSHRPSATTLLSR	6.0	9.0	unscreened	-	1913_13:52718906-52718906 G>A_LQFLVKQMFKRNSSHRPSATTLLSR
12:73015525-73015525 G>A	0.0	1913	MELANOMA	-	-	-	-	TRHDE	uc001sxa.3,p.R845K|NM_013381,p.R845K|ENST00000261180,p.R845K	retained_intron, protein_coding, processed_transcript	uc001sxa.3	nonsynonymous SNV	exon15	c.G2534A	p.R845K	ASTLISDWISSNRNRIPLNVRDIVY	ASTLISDWISSNKNRIPLNVRDIVY	1.0	7.0	unscreened	-	1913_12:73015525-73015525 G>A_ASTLISDWISSNKNRIPLNVRDIVY
19:43979579-43979579 C>T	1.0	1913	MELANOMA	-	-	-	-	PHLDB3	ENST00000292140,p.E636K|uc010eit.3,p.E306K|NM_198850,p.E636K|uc002own.4,p.E636K	retained_intron, protein_coding	uc010eit.3	nonsynonymous SNV	exon10	c.G916A	p.E306K	RIWMDVIVTAADENHAP	RIWMDVIVTAADKNHAP	7.0	3.0	unscreened	-	1913_19:43979579-43979579 C>T_RIWMDVIVTAADKNHAP
8:73993418-73993418 G>A	0.0	1913	MELANOMA	-	-	-	-	SBSPON	uc003xzf.3,p.P82L|ENST00000297354,p.P82L|NM_153225,p.P82L	protein_coding, processed_transcript	uc003xzf.3	nonsynonymous SNV	exon2	c.C245T	p.P82L	CPARPCFVGEWSPWSGCADQCKPTT	CPARPCFVGEWSLWSGCADQCKPTT	4.0	4.0	unscreened	-	1913_8:73993418-73993418 G>A_CPARPCFVGEWSLWSGCADQCKPTT
12:56628758-56628758 G>A	0.0	1913	MELANOMA	-	-	-	-	SLC39A5	uc010sqj.2,p.D208N|NM_001135195,p.D208N|NM_173596,p.D208N|uc010sqi.2,p.D99N|ENST00000454355,p.D208N|ENST00000436633,p.D179N|ENST00000266980,p.D208N|uc010sqk.2,p.D208N	retained_intron, protein_coding, processed_transcript	uc010sqk.2	nonsynonymous SNV	exon4	c.G622A	p.D208N	VCIGAPAPAPPGDLLSALLQSALAV	VCIGAPAPAPPGNLLSALLQSALAV	4.0	8.0	unscreened	-	1913_12:56628758-56628758 G>A_VCIGAPAPAPPGNLLSALLQSALAV
2:29294435-29294435 G>A	0.0	1913	MELANOMA	-	-	-	-	C2orf71	uc002rmt.2,p.A898V|NM_001029883,p.A898V|ENST00000331664,p.A898V	protein_coding	uc002rmt.2	nonsynonymous SNV	exon1	c.C2693T	p.A898V	VSPLDLLPSKSTASLTKPHSTGPGS	VSPLDLLPSKSTVSLTKPHSTGPGS	1.0	4.0	unscreened	-	1913_2:29294435-29294435 G>A_VSPLDLLPSKSTVSLTKPHSTGPGS
5:40931194-40931194 G>A	0.0	1913	MELANOMA	-	-	-	-	C7	ENST00000313164,p.D31N|uc003jmh.3,p.D31N|NM_000587,p.D31N	retained_intron, protein_coding, processed_transcript	uc003jmh.3	nonsynonymous SNV	exon3	c.G91A	p.D31N	FSSASSPVNCQWDFYAPWSECNGCT	FSSASSPVNCQWNFYAPWSECNGCT	1.0	5.0	unscreened	-	1913_5:40931194-40931194 G>A_FSSASSPVNCQWNFYAPWSECNGCT
4:70897817-70897817 A>T	0.0	1913	MELANOMA	-	-	-	-	HTN3	ENST00000530128,p.K32I|uc003hew.2,p.K32I|NM_000200,p.K32I|ENST00000526767,p.K32I	retained_intron, protein_coding	uc003hew.2	nonsynonymous SNV	exon4	c.A95T	p.K32I	DSHAKRHHGYKRKFHEKHHSHRGYR	DSHAKRHHGYKRIFHEKHHSHRGYR	1.0	9.0	unscreened	-	1913_4:70897817-70897817 A>T_DSHAKRHHGYKRIFHEKHHSHRGYR
7:75441248-75441248 C>T	1.0	1913	MELANOMA	-	-	-	-	CCL24	ENST00000416943,p.D76N|ENST00000222902,p.D76N|uc011kga.2,p.D76N|NM_002991,p.D76N	protein_coding	uc011kga.2	nonsynonymous SNV	exon3	c.G226A	p.D76N	IFTTKKGQQFCGDPKQEWVQRYMKN	IFTTKKGQQFCGNPKQEWVQRYMKN	3.0	4.0	unscreened	-	1913_7:75441248-75441248 C>T_IFTTKKGQQFCGNPKQEWVQRYMKN
2:220315909-220315909 C>T	0.0	1913	MELANOMA	-	-	-	-	SPEG	ENST00000312358,p.P722L|uc010fwg.3,p.P722L|NM_005876,p.P722L|ENST00000396698,p.P618L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fwg.3	nonsynonymous SNV	exon5	c.C2165T	p.P722L	SYVSAGEEPLEAPVFEIPLQNVVVA	SYVSAGEEPLEALVFEIPLQNVVVA	3.0	5.0	unscreened	-	1913_2:220315909-220315909 C>T_SYVSAGEEPLEALVFEIPLQNVVVA
3:51749159-51749159 C>T	0.0	1913	MELANOMA	-	-	-	-	GRM2	NM_000839,p.T457I|uc010hlv.3,p.T457I|ENST00000442933,p.T457I|ENST00000395052,p.T457I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hlv.3	nonsynonymous SNV	exon4	c.C1370T	p.T457I	RFGDGIGRYNIFTYLRAGSGRYRYQ	RFGDGIGRYNIFIYLRAGSGRYRYQ	1.0	8.0	unscreened	-	1913_3:51749159-51749159 C>T_RFGDGIGRYNIFIYLRAGSGRYRYQ
16:57945694-57945694 C>T	0.0	1913	MELANOMA	-	-	-	-	CNGB1	uc010cdh.2,p.G813S|ENST00000564448,p.G813S|NM_001297,p.G819S|ENST00000251102,p.G819S|NM_001286130,p.G813S|uc002emt.2,p.G819S	retained_intron, protein_coding, processed_transcript	uc010cdh.2	nonsynonymous SNV	exon25	c.G2437A	p.G813S	CLYYWASAYQGLGSTHWVYDGVGNS	CLYYWASAYQGLSSTHWVYDGVGNS	1.0	8.0	unscreened	-	1913_16:57945694-57945694 C>T_CLYYWASAYQGLSSTHWVYDGVGNS
19:501699-501699 C>T	1.0	1913	MELANOMA	-	-	ID=COSM1711545;OCCURENCE=1(skin)	-	MADCAM1	NM_130760,p.P233L|ENST00000215637,p.P233L|uc002los.3,p.P233L	protein_coding, processed_transcript	uc002los.3	nonsynonymous SNV	exon4	c.C698T	p.P233L	IPVLHSPTSPEPPDTTSPESPDTTS	IPVLHSPTSPEPLDTTSPESPDTTS	5.0	1.0	unscreened	-	1913_19:501699-501699 C>T_IPVLHSPTSPEPLDTTSPESPDTTS
1:216348650-216348650 C>T	0.0	1913	MELANOMA	-	-	-	-	USH2A	NM_206933,p.G1524E|uc001hkv.3,p.G1524E|ENST00000366943,p.G1524E|uc001hku.1,p.G1524E|NM_007123,p.G1524E|ENST00000307340,p.G1524E|ENST00000366942,p.G1524E	retained_intron, protein_coding	uc001hkv.3	nonsynonymous SNV	exon21	c.G4571A	p.G1524E	LMTTMMKGIRFIGNGYCKFPSSTHP	LMTTMMKGIRFIENGYCKFPSSTHP	1.0	1.0	unscreened	-	1913_1:216348650-216348650 C>T_LMTTMMKGIRFIENGYCKFPSSTHP
7:7571179-7571179 C>T	0.0	1913	MELANOMA	-	-	-	-	COL28A1	NM_001037763,p.D161N|uc003src.1,p.D161N|ENST00000399429,p.D161N	retained_intron, protein_coding, nonsense_mediated_decay	uc003src.1	nonsynonymous SNV	exon3	c.G481A	p.D161N	RKDGVKVVLLMTDGIDHPKNPDVQS	RKDGVKVVLLMTNGIDHPKNPDVQS	3.0	4.0	unscreened	-	1913_7:7571179-7571179 C>T_RKDGVKVVLLMTNGIDHPKNPDVQS
2:179553809-179553809 G>A	0.0	1913	MELANOMA	-	-	-	-	TTN	uc010fre.1,p.P556L|ENST00000414766,p.P567L	retained_intron, protein_coding	uc010fre.1	nonsynonymous SNV	exon19	c.C1667T	p.P556L	KPVPEEKVAVPVPVAKKAPPPREVT	KPVPEEKVAVPVLVAKKAPPPREVT	2.0	4.0	unscreened	-	1913_2:179553809-179553809 G>A_KPVPEEKVAVPVLVAKKAPPPREVT
6:129513889-129513889 A>T	0.0	1913	MELANOMA	-	-	-	-	LAMA2	ENST00000421865,p.Q558L|uc003qbn.3,p.Q558L|uc021zfb.1,p.Q558L|NM_000426,p.Q558L|uc003qbo.3,p.Q558L|NM_001079823,p.Q558L	protein_coding, processed_transcript	uc021zfb.1	nonsynonymous SNV	exon12	c.A1673T	p.Q558L	TDLPGRIRVAPQQDDLDSPQQISIS	TDLPGRIRVAPQLDDLDSPQQISIS	1.0	9.0	unscreened	-	1913_6:129513889-129513889 A>T_TDLPGRIRVAPQLDDLDSPQQISIS
9:4118322-4118322 C>T	0.0	1913	MELANOMA	-	-	-	-	GLIS3	uc010mhh.1,p.E261K|uc010mhg.1,p.E164K|uc003zig.1,p.E230K|uc003zih.1,p.E164K|uc003zic.1,p.E386K|uc003zhz.1,p.E164K|uc003zhy.1,p.E164K|ENST00000381971,p.E386K|ENST00000324333,p.E231K|uc003zif.1,p.E164K|NM_001042413,p.E386K|uc003zhw.1,p.E231K|NM_152629,p.E231K|uc003zie.1,p.E386K|uc003zid.1,p.E164K|uc010mhi.1,p.E193K|uc003zib.1,p.E230K|uc003zhx.1,p.E386K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010mhi.1	nonsynonymous SNV	exon2	c.G577A	p.E193K	VAPGGLALPAYGEDGALEHERMQQL	VAPGGLALPAYGKDGALEHERMQQL	4.0	9.0	unscreened	-	1913_9:4118322-4118322 C>T_VAPGGLALPAYGKDGALEHERMQQL
1:207791580-207791580 C>T	0.0	1913	MELANOMA	-	-	-	-	CR1	ENST00000400960,p.H1902Y|ENST00000367051,p.H1902Y|NM_000651,p.H2352Y|NM_000573,p.H1902Y|ENST00000367049,p.H2352Y|uc001hfx.3,p.H2352Y|uc001hfy.3,p.H1902Y|uc021pij.1,p.H1902Y|ENST00000367053,p.H1902Y|ENST00000367052,p.H1902Y	retained_intron, protein_coding, processed_transcript	uc021pij.1	nonsynonymous SNV	exon34	c.C5704T	p.H1902Y	FCTDQGIWSQLDHYCKEVNCSFPLF	FCTDQGIWSQLDYYCKEVNCSFPLF	1.0	1.0	unscreened	-	1913_1:207791580-207791580 C>T_FCTDQGIWSQLDYYCKEVNCSFPLF
11:18955392-18955392 C>T	0.0	1913	MELANOMA	-	-	-	-	MRGPRX1	ENST00000302797,p.E314K|NM_147199,p.E314K|uc001mpg.3,p.E314K	protein_coding, processed_transcript	uc001mpg.3	nonsynonymous SNV	exon1	c.G940A	p.E314K	DEGGGQLPEEILELSGSRLEQ	DEGGGQLPEEILKLSGSRLEQ	1.0	5.0	unscreened	-	1913_11:18955392-18955392 C>T_DEGGGQLPEEILKLSGSRLEQ
1:11595630-11595630 G>A	0.0	1913	MELANOMA	-	-	-	-	PTCHD2	ENST00000304391,p.R135H	protein_coding, processed_transcript	ENST00000304391	nonsynonymous SNV	exon4	c.G404A	p.R135H	GSHLPVHPRWLLRGLLRPPGRGLPA	GSHLPVHPRWLLHGLLRPPGRGLPA	3.0	1.0	unscreened	-	1913_1:11595630-11595630 G>A_GSHLPVHPRWLLHGLLRPPGRGLPA
5:13814851-13814851 C>T	0.0	1913	MELANOMA	-	-	-	-	DNAH5	uc003jfd.2,p.D2365N|NM_001369,p.D2365N|ENST00000265104,p.D2365N	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon43	c.G7093A	p.D2365N	LDDNKTLTLANGDRIPMAPNCKIIF	LDDNKTLTLANGNRIPMAPNCKIIF	1.0	8.0	unscreened	-	1913_5:13814851-13814851 C>T_LDDNKTLTLANGNRIPMAPNCKIIF
2:179642038-179642038 T>A	0.0	1913	MELANOMA	-	-	-	-	TTN	NM_003319,p.E1505V|ENST00000360870,p.E1551V|ENST00000589042,p.E1551V|uc021vta.2,p.E1505V|ENST00000359218,p.E1505V|uc031rqd.1,p.E1551V|NM_001267550,p.E1551V|ENST00000342992,p.E1551V|NM_133437,p.E1505V|uc021vsy.2,p.E1551V|uc021vsz.2,p.E1505V|uc021vtb.2,p.E1505V|uc002unb.3,p.E1551V|uc031rqc.1,p.E1551V|ENST00000342175,p.E1505V|NM_001256850,p.E1551V|ENST00000591111,p.E1551V|NM_133432,p.E1505V|NM_133379,p.E1551V|NM_133378,p.E1551V|ENST00000460472,p.E1505V	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon27	c.A4652T	p.E1551V	SSISVILTVEAVEHQVKPMFVEKLK	SSISVILTVEAVVHQVKPMFVEKLK	2.0	6.0	unscreened	-	1913_2:179642038-179642038 T>A_SSISVILTVEAVVHQVKPMFVEKLK
5:41055931-41055931 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1719043;OCCURENCE=2(NS)	-	MROH2B	NM_173489,p.E316K|ENST00000399564,p.E316K|uc003jmj.4,p.E316K	retained_intron, protein_coding	uc003jmj.4	nonsynonymous SNV	exon10	c.G946A	p.E316K	LILAHSNPGELMEFFDEQVRSNNEA	LILAHSNPGELMKFFDEQVRSNNEA	1.0	7.0	unscreened	-	1913_5:41055931-41055931 C>T_LILAHSNPGELMKFFDEQVRSNNEA
1:234444858-234444858 G>A	0.0	1913	MELANOMA	-	-	-	-	SLC35F3	uc001hvy.1,p.R207Q|NM_001300845,p.R138Q|ENST00000366618,p.R207Q|NM_173508,p.R207Q|ENST00000366617,p.R138Q|uc001hwa.1,p.R138Q	protein_coding	uc001hwa.1	nonsynonymous SNV	exon3	c.G413A	p.R138Q	KQSVKQRYRECCRFFGDNGLTLKVF	KQSVKQRYRECCQFFGDNGLTLKVF	1.0	3.0	unscreened	-	1913_1:234444858-234444858 G>A_KQSVKQRYRECCQFFGDNGLTLKVF
19:501699-501699 C>T	1.0	1913	MELANOMA	-	-	ID=COSM1711545;OCCURENCE=1(skin)	-	MADCAM1	ENST00000587541,p.P14L	protein_coding, processed_transcript	ENST00000587541	nonsynonymous SNV	exon2	c.C41T	p.P14L	GGILHSPTSPEPPDTTSPESPDTTS	GGILHSPTSPEPLDTTSPESPDTTS	5.0	1.0	unscreened	-	1913_19:501699-501699 C>T_GGILHSPTSPEPLDTTSPESPDTTS
1:120050191-120050191 A>T	0.0	1913	MELANOMA	-	-	-	-	HSD3B1	ENST00000528909,p.E31V|NM_000862,p.E31V|ENST00000369413,p.E31V|uc031pnt.1,p.E31V|ENST00000235547,p.E33V|ENST00000531340,p.E31V|uc001ehv.1,p.E31V	retained_intron, protein_coding	uc031pnt.1	nonsynonymous SNV	exon1	c.A92T	p.E31V	IIRLLVKEKELKEIRVLDKAFGPEL	IIRLLVKEKELKVIRVLDKAFGPEL	1.0	9.0	unscreened	-	1913_1:120050191-120050191 A>T_IIRLLVKEKELKVIRVLDKAFGPEL
7:20739454-20739454 G>A	0.0	1913	MELANOMA	-	-	-	-	ABCB5	NM_178559,p.G276R|ENST00000404938,p.G721R|NM_001163941,p.G721R|uc003suw.4,p.G276R|uc010kuh.3,p.G721R|ENST00000258738,p.G276R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010kuh.3	nonsynonymous SNV	exon18	c.G2161A	p.G721R	FSIIFAKIITMFGNNDKTTLKHDAE	FSIIFAKIITMFRNNDKTTLKHDAE	1.0	7.0	unscreened	-	1913_7:20739454-20739454 G>A_FSIIFAKIITMFRNNDKTTLKHDAE
2:179578705-179578705 G>A	0.0	1913	MELANOMA	-	-	-	-	TTN	uc021vsy.2,p.P7650S|NM_001256850,p.P8577S|ENST00000342992,p.P7650S|uc031rqc.1,p.P8894S|NM_001267550,p.P8894S|uc031rqd.1,p.P8577S|NM_133378,p.P7650S|uc002umz.1,p.P4311S|ENST00000591111,p.P8577S|ENST00000589042,p.P8894S	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon90	c.C25729T	p.P8577S	NKVSGLKIINVAPSDSGVYSFEVQN	NKVSGLKIINVASSDSGVYSFEVQN	2.0	6.0	unscreened	-	1913_2:179578705-179578705 G>A_NKVSGLKIINVASSDSGVYSFEVQN
X:139866408-139866408 C>T	0.0	1913	MELANOMA	-	-	-	-	CDR1	NM_004065,p.D42N|ENST00000370532,p.D42N|uc004fbg.1,p.D42N	protein_coding	uc004fbg.1	nonsynonymous SNV	exon1	c.G124A	p.D42N	DVPLLEDTSRLEDINLMEDMALLED	DVPLLEDTSRLENINLMEDMALLED	1.0	9.0	unscreened	-	1913_X:139866408-139866408 C>T_DVPLLEDTSRLENINLMEDMALLED
2:168099865-168099865 C>T	0.0	1913	MELANOMA	-	-	-	-	XIRP2	uc002udy.3,p.R480W|ENST00000409195,p.R655W|uc002udx.3,p.R655W|ENST00000409273,p.R433W|ENST00000295237,p.R655W|uc010fpq.3,p.R433W|NM_001199144,p.R433W|NM_152381,p.R655W	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.C1297T	p.R433W	IPELARGDVCTARWMFETRPLDSMN	IPELARGDVCTAWWMFETRPLDSMN	1.0	6.0	unscreened	-	1913_2:168099865-168099865 C>T_IPELARGDVCTAWWMFETRPLDSMN
12:2224639-2224639 C>T	0.0	1913	MELANOMA	-	-	-	-	CACNA1C	uc001qkh.2,p.P100L|ENST00000480911,p.P100L|ENST00000399655,p.P100L|uc001qkf.2,p.P100L|NM_001129827,p.P100L|NM_001129834,p.P100L|ENST00000399601,p.P100L|NM_199460,p.P100L|ENST00000335762,p.P100L|ENST00000399595,p.P100L|ENST00000347598,p.P100L|uc001qkc.2,p.P100L|ENST00000327702,p.P100L|NM_001129840,p.P100L|uc001qkk.2,p.P100L|uc001qkb.2,p.P100L|ENST00000399634,p.P100L|uc001qkj.2,p.P100L|NM_001129844,p.P100L|ENST00000402845,p.P100L|ENST00000399591,p.P100L|NM_001129843,p.P100L|uc001qkm.2,p.P100L|uc001qko.2,p.P100L|NM_001129839,p.P100L|NM_000719,p.P100L|NM_001129830,p.P100L|ENST00000399606,p.P100L|NM_001129836,p.P100L|NM_001167625,p.P100L|NM_001129832,p.P100L|ENST00000399641,p.P100L|NM_001129841,p.P100L|uc009zdw.1,p.P100L|uc001qkn.2,p.P100L|ENST00000399603,p.P100L|NM_001129846,p.P100L|ENST00000399597,p.P100L|NM_001129835,p.P100L|ENST00000344100,p.P100L|NM_001129837,p.P100L|ENST00000399617,p.P100L|uc009zdv.1,p.P100L|ENST00000406454,p.P100L|ENST00000399644,p.P100L|uc001qkp.2,p.P100L|uc001qks.2,p.P100L|NM_001167624,p.P100L|uc009zdu.1,p.P100L|NM_001129838,p.P100L|NM_001167623,p.P100L|uc001qku.2,p.P100L|uc001qke.2,p.P100L|NM_001129831,p.P100L|uc001qkd.2,p.P100L|uc001qkq.2,p.P100L|ENST00000399637,p.P100L|uc001qjz.2,p.P100L|uc001qkr.2,p.P100L|ENST00000399629,p.P100L|NM_001129842,p.P100L|ENST00000399638,p.P100L|NM_001129833,p.P100L|uc001qkg.2,p.P100L|uc001qkl.2,p.P100L|uc001qkt.2,p.P100L|NM_001129829,p.P100L|ENST00000399621,p.P100L|ENST00000399649,p.P100L	retained_intron, protein_coding, processed_transcript	uc009zdw.1	nonsynonymous SNV	exon2	c.C299T	p.P100L	KPKKQGSTTATRPPRALLCLTLKNP	KPKKQGSTTATRLPRALLCLTLKNP	1.0	4.0	unscreened	-	1913_12:2224639-2224639 C>T_KPKKQGSTTATRLPRALLCLTLKNP
16:51173686-51173686 T>A	0.0	1913	MELANOMA	-	-	-	-	SALL1	NM_001127892,p.K719I|uc021tif.1,p.K719I|ENST00000440970,p.K719I|uc021tie.1,p.K816I|ENST00000570206,p.K719I|uc021tid.1,p.K719I|NM_002968,p.K816I|ENST00000251020,p.K816I	protein_coding, processed_transcript	uc021tif.1	nonsynonymous SNV	exon2	c.A2156T	p.K719I	ESMESDTGSFDEKNFDDLDNFSDEN	ESMESDTGSFDEINFDDLDNFSDEN	1.0	8.0	unscreened	-	1913_16:51173686-51173686 T>A_ESMESDTGSFDEINFDDLDNFSDEN
1:228407066-228407066 G>A	0.0	1913	MELANOMA	-	-	-	-	OBSCN	ENST00000570156,p.E899K|uc001hsq.2,p.E899K|NM_001271223,p.E899K	retained_intron, protein_coding, processed_transcript	uc001hsq.2	nonsynonymous SNV	exon9	c.G2695A	p.E899K	KAVFAKEQPACREVQAEVGASATLS	KAVFAKEQPACRKVQAEVGASATLS	4.0	3.0	unscreened	-	1913_1:228407066-228407066 G>A_KAVFAKEQPACRKVQAEVGASATLS
16:3141598-3141598 C>T	0.0	1913	MELANOMA	-	-	-	-	ZSCAN10	uc002ctx.1,p.E117K|uc002ctw.1,p.E107K|NM_001282416,p.E107K|NM_032805,p.E189K|uc002ctv.1,p.E189K	retained_intron, protein_coding, processed_transcript	uc002ctx.1	nonsynonymous SNV	exon3	c.G349A	p.E117K	ESSRDQELAAVLECLTFEDVPENKA	ESSRDQELAAVLKCLTFEDVPENKA	1.0	9.0	unscreened	-	1913_16:3141598-3141598 C>T_ESSRDQELAAVLKCLTFEDVPENKA
6:10874869-10874869 C>T	0.0	1913	MELANOMA	-	-	ID=COSM225229;OCCURENCE=1(NS)	-	GCM2	NM_004752,p.D294N|uc003mzn.4,p.D294N|ENST00000379491,p.D294N	protein_coding	uc003mzn.4	nonsynonymous SNV	exon5	c.G880A	p.D294N	YTNSSPYPTLYKDSTSIPNDTDWVH	YTNSSPYPTLYKNSTSIPNDTDWVH	1.0	2.0	unscreened	-	1913_6:10874869-10874869 C>T_YTNSSPYPTLYKNSTSIPNDTDWVH
7:82584223-82584223 C>T	0.0	1913	MELANOMA	-	-	-	-	PCLO	uc003uhx.2,p.E2016K|ENST00000333891,p.E2016K|uc003uhv.2,p.E2016K|NM_033026,p.E2016K|NM_014510,p.E2016K|ENST00000423517,p.E2016K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon5	c.G6046A	p.E2016K	MQKITDLQKEFYELESLHSVVPQED	MQKITDLQKEFYKLESLHSVVPQED	1.0	5.0	unscreened	-	1913_7:82584223-82584223 C>T_MQKITDLQKEFYKLESLHSVVPQED
6:49754563-49754563 G>A	0.0	1913	MELANOMA	-	-	-	-	PGK2	ENST00000304801,p.P113L|uc003ozu.3,p.P113L|NM_138733,p.P113L	protein_coding	uc003ozu.3	nonsynonymous SNV	exon1	c.C338T	p.P113L	GAEVEKACANPAPGSVILLENLRFH	GAEVEKACANPALGSVILLENLRFH	1.0	7.0	unscreened	-	1913_6:49754563-49754563 G>A_GAEVEKACANPALGSVILLENLRFH
3:186980378-186980378 G>A	0.0	1913	MELANOMA	-	-	-	-	MASP1	ENST00000392470,p.S97F|uc003frj.3,p.S92F|uc011bse.2,p.S97F|ENST00000296280,p.S123F|NM_001879,p.S123F|NM_001031849,p.S123F|ENST00000169293,p.S123F|ENST00000392475,p.S130F|uc003frk.2,p.S123F|NM_139125,p.S123F|ENST00000337774,p.S123F|uc003fri.3,p.S123F|uc003frh.2,p.S123F	retained_intron, protein_coding, processed_transcript	uc011bse.2	nonsynonymous SNV	exon4	c.C290T	p.S97F	GSFMSITFRSDFSNEERFTGFDAHY	GSFMSITFRSDFFNEERFTGFDAHY	1.0	8.0	unscreened	-	1913_3:186980378-186980378 G>A_GSFMSITFRSDFFNEERFTGFDAHY
19:13335576-13335576 C>T	0.0	1913	MELANOMA	-	-	-	-	CACNA1A	uc002mwv.3,p.R396Q|NM_001127221,p.R1880Q|uc010dzc.2,p.R1405Q|uc021upt.1,p.R1880Q|ENST00000587525,p.R366Q|ENST00000573710,p.R1880Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021upt.1	nonsynonymous SNV	exon38	c.G5639A	p.R1880Q	KCPHRVACKRLLRMDLPVADDNTVH	KCPHRVACKRLLQMDLPVADDNTVH	1.0	7.0	unscreened	-	1913_19:13335576-13335576 C>T_KCPHRVACKRLLQMDLPVADDNTVH
14:72961888-72961888 G>A	0.0	1913	MELANOMA	-	-	ID=COSM223706;OCCURENCE=1(skin)	-	RGS6	uc010ttn.2,p.E295K|ENST00000406236,p.E295K|ENST00000407322,p.E295K|ENST00000404301,p.E295K|ENST00000553530,p.E295K|ENST00000554782,p.E156K|ENST00000555571,p.E295K|ENST00000553525,p.E295K|NM_001204418,p.E295K|ENST00000554474,p.E295K|uc021rvx.1,p.E295K|NM_001204417,p.E295K|uc010ttp.1,p.E226K|ENST00000402788,p.E295K|NM_004296,p.E295K|uc021rvw.1,p.E295K|ENST00000434263,p.E226K|uc021rwc.1,p.E156K|NM_001204424,p.E295K|ENST00000556437,p.E295K|NM_001204416,p.E295K|NM_001204423,p.E260K|uc001xna.4,p.E295K|ENST00000355512,p.E295K|uc001xmx.4,p.E295K|uc001xmy.4,p.E295K|uc021rvv.1,p.E260K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021rwc.1	nonsynonymous SNV	exon8	c.G466A	p.E156K	AESLIAYTEQYVEYDPLITPAEPSN	AESLIAYTEQYVKYDPLITPAEPSN	1.0	7.0	unscreened	-	1913_14:72961888-72961888 G>A_AESLIAYTEQYVKYDPLITPAEPSN
3:150916297-150916297 G>A	0.0	1913	MELANOMA	-	-	-	-	GPR171	NM_013308,p.R293C|uc003eyq.4,p.R293C|uc021xfy.1,p.R293C|ENST00000309180,p.R293C	protein_coding	uc021xfy.1	nonsynonymous SNV	exon1	c.C877T	p.R293C	DPILYYHLSKAFRSKVTETFASPKE	DPILYYHLSKAFCSKVTETFASPKE	1.0	7.0	unscreened	-	1913_3:150916297-150916297 G>A_DPILYYHLSKAFCSKVTETFASPKE
11:431764-431764 C>T	0.0	1913	MELANOMA	-	-	-	-	ANO9	uc010qvv.1,p.E13K	retained_intron, protein_coding	uc010qvv.1	nonsynonymous SNV	exon6	c.G37A	p.E13K	MGALTLCHPSQGEGRLKKTWARWRH	MGALTLCHPSQGKGRLKKTWARWRH	2.0	2.0	unscreened	-	1913_11:431764-431764 C>T_MGALTLCHPSQGKGRLKKTWARWRH
1:173493197-173493197 G>A	0.0	1913	MELANOMA	-	-	-	-	SLC9C2	uc009wwe.2,p.P409S|uc001giz.2,p.P851S|ENST00000367714,p.P851S|NM_178527,p.P851S	protein_coding, processed_transcript	uc009wwe.2	nonsynonymous SNV	exon14	c.C1225T	p.P409S	VLLKKLKALNNFPKAIPPPTPDIYL	VLLKKLKALNNFSKAIPPPTPDIYL	1.0	8.0	unscreened	-	1913_1:173493197-173493197 G>A_VLLKKLKALNNFSKAIPPPTPDIYL
10:15115116-15115116 A>T	0.0	1913	MELANOMA	-	-	-	-	OLAH	ENST00000378228,p.K229I|uc001int.2,p.K282I|uc001inu.2,p.K229I|NM_001039702,p.K229I|NM_018324,p.K282I|ENST00000378217,p.K282I	protein_coding, processed_transcript	uc001inu.2	nonsynonymous SNV	exon8	c.A686T	p.K229I	MEAWKDVTSGNAKIYQLPGGHFYLL	MEAWKDVTSGNAIIYQLPGGHFYLL	1.0	6.0	unscreened	-	1913_10:15115116-15115116 A>T_MEAWKDVTSGNAIIYQLPGGHFYLL
19:2877723-2877723 G>A	0.0	1913	MELANOMA	-	-	-	-	ZNF556	uc002lwq.3,p.G255E|NM_001300843,p.G255E|ENST00000307635,p.G256E|uc002lwp.1,p.G256E|ENST00000586426,p.G255E|NM_024967,p.G256E	protein_coding, nonsense_mediated_decay	uc002lwq.3	nonsynonymous SNV	exon4	c.G764A	p.G255E	KSFRAHVMMHAGGRPYECKHCGKAF	KSFRAHVMMHAGERPYECKHCGKAF	1.0	3.0	unscreened	-	1913_19:2877723-2877723 G>A_KSFRAHVMMHAGERPYECKHCGKAF
12:57432289-57432289 G>A	0.0	1913	MELANOMA	-	-	-	-	MYO1A	NM_005379,p.S556F|ENST00000554234,p.S394F|ENST00000300119,p.S556F|uc010sqz.2,p.S394F|NM_001256041,p.S556F|uc001smw.5,p.S556F|ENST00000442789,p.S556F|uc009zpd.3,p.S556F|ENST00000544473,p.S394F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sqz.2	nonsynonymous SNV	exon13	c.C1181T	p.S394F	RSLFPEGNPKQASLKRPPTAGAQFK	RSLFPEGNPKQAFLKRPPTAGAQFK	4.0	2.0	unscreened	-	1913_12:57432289-57432289 G>A_RSLFPEGNPKQAFLKRPPTAGAQFK
1:16358311-16358311 A>G	0.0	1913	MELANOMA	-	-	-	-	CLCNKA	ENST00000331433,p.T577A|uc001axv.3,p.T577A|NM_001257139,p.T534A|uc010obw.2,p.T534A|uc001axu.3,p.T577A|ENST00000420078,p.T577A|ENST00000375692,p.T577A|ENST00000439316,p.T534A|NM_001042704,p.T577A|NM_004070,p.T577A	protein_coding, processed_transcript	uc010obw.2	nonsynonymous SNV	exon15	c.A1600G	p.T534A	EEVVKVVTSTDVTEYPLVESTESQI	EEVVKVVTSTDVAEYPLVESTESQI	1.0	1.0	unscreened	-	1913_1:16358311-16358311 A>G_EEVVKVVTSTDVAEYPLVESTESQI
6:152163802-152163802 G>A	0.0	1913	MELANOMA	-	-	-	1	ESR1	NM_001122740,p.A175T|NM_001291230,p.A175T|NM_001122741,p.A175T|NM_000125,p.A175T|ENST00000443427,p.A175T|NM_001291241,p.A175T|ENST00000440973,p.A175T|ENST00000206249,p.A175T|ENST00000456483,p.A175T|NM_001122742,p.A175T|ENST00000338799,p.A175T	protein_coding, processed_transcript	NM_001291241	nonsynonymous SNV	exon3	c.G523A	p.A175T	ERLASTNDKGSMAMESAKETRYCAV	ERLASTNDKGSMTMESAKETRYCAV	2.0	3.0	unscreened	-	1913_6:152163802-152163802 G>A_ERLASTNDKGSMTMESAKETRYCAV
15:34115273-34115273 G>C	0.0	1913	MELANOMA	-	-	-	-	RYR3	uc001zhi.3,p.S3691T|uc010bar.3,p.S3686T|NM_001036,p.S3691T|NM_001243996,p.S3686T|ENST00000415757,p.S3686T|ENST00000389232,p.S3691T	retained_intron, protein_coding, processed_transcript	uc010bar.3	nonsynonymous SNV	exon80	c.G11057C	p.S3686T	FFQSLSGLMQSCSVLDLNAFERQNK	FFQSLSGLMQSCTVLDLNAFERQNK	4.0	8.0	unscreened	-	1913_15:34115273-34115273 G>C_FFQSLSGLMQSCTVLDLNAFERQNK
2:60688206-60688206 G>A	0.0	1913	MELANOMA	-	-	-	1	BCL11A	uc002sab.3,p.S614L|ENST00000537768,p.S283L|uc010ypj.2,p.S580L|ENST00000356842,p.S614L|uc002sae.1,p.S614L|uc002saf.1,p.S580L|ENST00000335712,p.S614L|uc002sad.1,p.S462L|NM_022893,p.S614L|uc010ypi.2,p.S283L|NM_018014,p.S614L|ENST00000358510,p.S580L|ENST00000538214,p.S580L	protein_coding, processed_transcript	uc010ypj.2	nonsynonymous SNV	exon3	c.C1739T	p.S580L	VNGRGCSPGESASGGLSKKLLLGSP	VNGRGCSPGESALGGLSKKLLLGSP	2.0	7.0	unscreened	-	1913_2:60688206-60688206 G>A_VNGRGCSPGESALGGLSKKLLLGSP
13:25272971-25272971 T>G	0.0	1913	MELANOMA	-	-	-	-	ATP12A	ENST00000381946,p.L563W|NM_001676,p.L563W|uc010aaa.3,p.L569W|NM_001185085,p.L569W|uc001upp.3,p.L563W|ENST00000218548,p.L569W	protein_coding	uc010aaa.3	nonsynonymous SNV	exon12	c.T1706G	p.L569W	KTFHTAYMELGGLGERVLGFCHLYL	KTFHTAYMELGGWGERVLGFCHLYL	1.0	9.0	unscreened	-	1913_13:25272971-25272971 T>G_KTFHTAYMELGGWGERVLGFCHLYL
1:2436258-2436258 C>A	0.0	1913	MELANOMA	-	-	-	-	PLCH2	NM_014638,p.T1286K|ENST00000378488,p.T1250K|uc001ajl.1,p.T138K|uc009vle.1,p.T1038K|ENST00000419816,p.T1286K|ENST00000378486,p.T1286K	retained_intron, protein_coding, processed_transcript	uc009vle.1	nonsynonymous SNV	exon18	c.C3113A	p.T1038K	RRLSHSLGLPGGTRRVSGPGVRRDT	RRLSHSLGLPGGKRRVSGPGVRRDT	1.0	1.0	unscreened	-	1913_1:2436258-2436258 C>A_RRLSHSLGLPGGKRRVSGPGVRRDT
11:63283818-63283818 G>A	0.0	1913	MELANOMA	-	-	-	-	LGALS12	uc001nxe.2,p.E252K|uc009yot.2,p.E282K|NM_001142538,p.E252K|ENST00000425950,p.E252K|ENST00000340246,p.E323K|NM_001142537,p.E261K|NM_033101,p.E322K|ENST00000394618,p.E322K|uc001nxa.2,p.E322K|uc001nxc.2,p.E323K|ENST00000255684,p.E313K|uc001nxd.2,p.E261K|ENST00000415491,p.E261K|NM_001142536,p.E313K|uc001nxb.2,p.E313K|NM_001142535,p.E323K	protein_coding	uc009yot.2	nonsynonymous SNV	exon8	c.G844A	p.E282K	TSMNQQALEQLRELRISGSVQLYCV	TSMNQQALEQLRKLRISGSVQLYCV	1.0	1.0	unscreened	-	1913_11:63283818-63283818 G>A_TSMNQQALEQLRKLRISGSVQLYCV
14:26917793-26917793 G>A	0.0	1913	MELANOMA	-	-	-	-	NOVA1	uc001wpy.3,p.A299V|uc001wqa.3,p.A177V|ENST00000539517,p.A299V|NM_002515,p.A299V|ENST00000449198,p.A258V|NM_006489,p.A275V|ENST00000267422,p.A177V|ENST00000465357,p.A275V|uc001wpz.3,p.A275V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wqa.3	nonsynonymous SNV	exon6	c.C530T	p.A177V	GLLGHANLAGVAAFPAVLSGFTGND	GLLGHANLAGVAVFPAVLSGFTGND	1.0	5.0	unscreened	-	1913_14:26917793-26917793 G>A_GLLGHANLAGVAVFPAVLSGFTGND
1:205809409-205809409 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1689719;OCCURENCE=1(skin)	-	PM20D1	uc001hdj.3,p.R363W|ENST00000367136,p.R363W|NM_152491,p.R363W	protein_coding, processed_transcript	uc001hdj.3	nonsynonymous SNV	exon10	c.C1087T	p.R363W	VIPPVAQATVNFRIHPGQTVQEVLE	VIPPVAQATVNFWIHPGQTVQEVLE	1.0	9.0	unscreened	-	1913_1:205809409-205809409 G>A_VIPPVAQATVNFWIHPGQTVQEVLE
2:211179690-211179690 G>A	0.0	1913	MELANOMA	-	-	-	-	MYL1	ENST00000352451,p.P26L|uc002vec.3,p.P26L|NM_079420,p.P26L	protein_coding, processed_transcript	uc002vec.3	nonsynonymous SNV	exon1	c.C77T	p.P26L	AAAAPAPAPAPAPAPAPAKPKEEKI	AAAAPAPAPAPALAPAPAKPKEEKI	1.0	5.0	unscreened	-	1913_2:211179690-211179690 G>A_AAAAPAPAPAPALAPAPAKPKEEKI
3:38770099-38770099 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1692570;OCCURENCE=2(skin)	-	SCN10A	ENST00000449082,p.M858I|NM_001293306,p.M858I|NM_006514,p.M858I|uc003ciq.3,p.M858I|NM_001293307,p.M760I	protein_coding	uc003ciq.3	nonsynonymous SNV	exon15	c.G2574A	p.M858I	LCGEWIENMWACMEVGQKSICLILF	LCGEWIENMWACIEVGQKSICLILF	1.0	9.0	unscreened	-	1913_3:38770099-38770099 C>T_LCGEWIENMWACIEVGQKSICLILF
5:140348074-140348074 C>T	0.0	1913	MELANOMA	-	-	-	-	PCDHAC2	uc003lii.3,p.H575Y|ENST00000289269,p.H575Y|uc011dag.2,p.H575Y|NM_018899,p.H575Y|NM_031883,p.H575Y	protein_coding	uc011dag.2	nonsynonymous SNV	exon1	c.C1723T	p.H575Y	VTANVYVVDMNDHAPHILYPTSTNS	VTANVYVVDMNDYAPHILYPTSTNS	1.0	2.0	unscreened	-	1913_5:140348074-140348074 C>T_VTANVYVVDMNDYAPHILYPTSTNS
5:135551900-135551900 C>T	0.0	1913	MELANOMA	-	-	-	-	TRPC7	ENST00000426057,p.E687K|uc010jeh.2,p.E742K|uc010jei.2,p.E687K|ENST00000513104,p.E803K|NM_020389,p.E803K|uc010jej.2,p.E354K|uc010jef.2,p.E739K|NM_001167577,p.E742K|uc003lbn.2,p.E803K|NM_001167576,p.E687K|ENST00000355180,p.E742K	retained_intron, protein_coding, nonsense_mediated_decay	uc010jej.2	nonsynonymous SNV	exon7	c.G1060A	p.E354K	YVLKAQVDRENDEVNEGELKEIKQD	YVLKAQVDRENDKVNEGELKEIKQD	1.0	9.0	unscreened	-	1913_5:135551900-135551900 C>T_YVLKAQVDRENDKVNEGELKEIKQD
3:44763846-44763846 C>T	0.0	1913	MELANOMA	-	-	-	-	ZNF502	NM_001134440,p.H513Y|uc011bab.2,p.H513Y|NM_001282880,p.H513Y|uc003cnt.3,p.H513Y|ENST00000296091,p.H513Y|ENST00000436624,p.H513Y|ENST00000449836,p.H513Y|uc003cns.3,p.H513Y|NM_001134442,p.H513Y|uc011baa.2,p.H513Y|NM_001134441,p.H513Y|NM_033210,p.H513Y	protein_coding	uc011bab.2	nonsynonymous SNV	exon3	c.C1537T	p.H513Y	RKYAHLSEHYRIHTGEKPYECIECG	RKYAHLSEHYRIYTGEKPYECIECG	1.0	8.0	unscreened	-	1913_3:44763846-44763846 C>T_RKYAHLSEHYRIYTGEKPYECIECG
18:31318870-31318870 C>T	0.0	1913	MELANOMA	-	-	-	-	ASXL3	NM_030632,p.S501F|ENST00000269197,p.S501F|uc002kxq.2,p.S208F|uc010dmg.1,p.S501F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dmg.1	nonsynonymous SNV	exon11	c.C1502T	p.S501F	EPQIAPPEDNLESCVMMNDVLETLP	EPQIAPPEDNLEFCVMMNDVLETLP	1.0	9.0	unscreened	-	1913_18:31318870-31318870 C>T_EPQIAPPEDNLEFCVMMNDVLETLP
3:49700959-49700959 C>T	1.0	1913	MELANOMA	-	-	-	-	BSN	ENST00000296452,p.P3790S|uc003cxe.4,p.P3790S|NM_003458,p.P3790S	retained_intron, protein_coding	uc003cxe.4	nonsynonymous SNV	exon7	c.C11368T	p.P3790S	TQQQQQGLGLQPPQQALTQARLQQQ	TQQQQQGLGLQPSQQALTQARLQQQ	5.0	1.0	unscreened	-	1913_3:49700959-49700959 C>T_TQQQQQGLGLQPSQQALTQARLQQQ
2:159215063-159215063 C>T	0.0	1913	MELANOMA	-	-	-	-	CCDC148	ENST00000409187,p.M24I	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000409187	nonsynonymous SNV	exon3	c.G72A	p.M24I	QRNDSSDNLVFHMKNEMRNIKYKPV	QRNDSSDNLVFHIKNEMRNIKYKPV	4.0	3.0	unscreened	-	1913_2:159215063-159215063 C>T_QRNDSSDNLVFHIKNEMRNIKYKPV
11:285237-285237 T>C	0.0	1913	MELANOMA	-	-	-	-	NLRP6	ENST00000534750,p.L870P|NM_001276700,p.L870P|uc010qvs.3,p.L871P|uc010qvt.3,p.L870P|ENST00000312165,p.L871P|NM_138329,p.L871P	retained_intron, protein_coding	uc010qvt.3	nonsynonymous SNV	exon8	c.T2609C	p.L870P	QELQAVKRAKPDLVITHPALDGHPQ	QELQAVKRAKPDPVITHPALDGHPQ	1.0	3.0	unscreened	-	1913_11:285237-285237 T>C_QELQAVKRAKPDPVITHPALDGHPQ
12:104033986-104033986 C>T	0.0	1913	MELANOMA	-	-	-	-	STAB2	ENST00000388887,p.P331L|uc001tjw.3,p.P331L|NM_017564,p.P331L	retained_intron, protein_coding, nonsense_mediated_decay	uc001tjw.3	nonsynonymous SNV	exon9	c.C992T	p.P331L	GCSMTDICKSDNPCHRNANCTTVAP	GCSMTDICKSDNLCHRNANCTTVAP	2.0	1.0	unscreened	-	1913_12:104033986-104033986 C>T_GCSMTDICKSDNLCHRNANCTTVAP
8:24254784-24254784 G>A	0.0	1913	MELANOMA	-	-	-	-	ADAMDEC1	uc010lub.2,p.G69R|ENST00000256412,p.G148R|ENST00000522298,p.G69R|NM_014479,p.G148R|uc003xdz.2,p.G148R|NM_001145272,p.G69R|ENST00000538205,p.G69R|NM_001145271,p.G69R|uc011lab.1,p.G69R	protein_coding, processed_transcript, nonsense_mediated_decay	uc011lab.1	nonsynonymous SNV	exon5	c.G205A	p.G69R	SVASISTCDGLRGYFTHHHQRYQIK	SVASISTCDGLRRYFTHHHQRYQIK	1.0	5.0	unscreened	-	1913_8:24254784-24254784 G>A_SVASISTCDGLRRYFTHHHQRYQIK
X:35989872-35989872 G>A	0.0	1913	MELANOMA	-	-	-	-	CXorf22	ENST00000297866,p.E714K|uc004ddj.3,p.E714K|ENST00000493930,p.E714K|NM_152632,p.E714K	protein_coding, nonsense_mediated_decay	uc004ddj.3	nonsynonymous SNV	exon12	c.G2140A	p.E714K	LLTTRGIASQEEESVRRKVLKGLKS	LLTTRGIASQEEKSVRRKVLKGLKS	1.0	9.0	unscreened	-	1913_X:35989872-35989872 G>A_LLTTRGIASQEEKSVRRKVLKGLKS
6:36290133-36290133 G>A	0.0	1913	MELANOMA	-	-	-	-	C6orf222	ENST00000437635,p.H520Y|uc003oly.3,p.H520Y|NM_001010903,p.H520Y	protein_coding	uc003oly.3	nonsynonymous SNV	exon9	c.C1558T	p.H520Y	VVISEAPSQARGHTPEGAPQLSGAC	VVISEAPSQARGYTPEGAPQLSGAC	1.0	1.0	unscreened	-	1913_6:36290133-36290133 G>A_VVISEAPSQARGYTPEGAPQLSGAC
7:150554112-150554112 C>T	0.0	1913	MELANOMA	-	-	-	-	AOC1	ENST00000493429,p.T185I|uc003why.1,p.T185I|NM_001272072,p.T185I|uc003whz.2,p.T185I|ENST00000460213,p.T185I|ENST00000416793,p.T185I|ENST00000483043,p.T185I|uc003wia.2,p.T185I|ENST00000360937,p.T185I|ENST00000467291,p.T185I|NM_001091,p.T185I	protein_coding, processed_transcript	uc003wia.2	nonsynonymous SNV	exon2	c.C554T	p.T185I	SFQDCHDRCLAFTDVAPRGVASGQR	SFQDCHDRCLAFIDVAPRGVASGQR	1.0	6.0	unscreened	-	1913_7:150554112-150554112 C>T_SFQDCHDRCLAFIDVAPRGVASGQR
7:87911987-87911987 C>T	0.0	1913	MELANOMA	-	-	-	-	STEAP4	ENST00000414498,p.R318Q	protein_coding	ENST00000414498	nonsynonymous SNV	exon4	c.G953A	p.R318Q	LYTLVIPIRYYVRWRLGNLTVTQVN	LYTLVIPIRYYVQWRLGNLTVTQVN	1.0	6.0	unscreened	-	1913_7:87911987-87911987 C>T_LYTLVIPIRYYVQWRLGNLTVTQVN
6:55659173-55659173 C>T	0.0	1913	MELANOMA	-	-	ID=COSM69832;OCCURENCE=1(ovary)	2	BMP5	uc011dxf.2,p.G246S|NM_021073,p.G246S|ENST00000370830,p.G246S|ENST00000446683,p.G246S|uc003pcq.3,p.G246S	protein_coding	uc011dxf.2	nonsynonymous SNV	exon3	c.G736A	p.G246S	LLDTRKAQALDVGWLVFDITVTSNH	LLDTRKAQALDVSWLVFDITVTSNH	1.0	7.0	unscreened	-	1913_6:55659173-55659173 C>T_LLDTRKAQALDVSWLVFDITVTSNH
5:137801693-137801693 C>G	1.0	1913	MELANOMA	-	-	-	-	EGR1	ENST00000239938,p.S81R|NM_001964,p.S81R|uc003ldb.1,p.S81R	protein_coding	uc003ldb.1	nonsynonymous SNV	exon1	c.C243G	p.S81R	GGGGGGGGSNSSSSSSTFNPQADTG	GGGGGGGGSNSSRSSSTFNPQADTG	10.0	7.0	unscreened	-	1913_5:137801693-137801693 C>G_GGGGGGGGSNSSRSSSTFNPQADTG
2:179553809-179553809 G>A	0.0	1913	MELANOMA	-	-	-	-	TTN	NM_001256850,p.P10372L|uc002umz.1,p.P6106L|uc031rqd.1,p.P10372L|NM_133378,p.P9445L|ENST00000591111,p.P10372L|NM_001267550,p.P10689L|ENST00000342992,p.P9445L|ENST00000589042,p.P10689L|uc031rqc.1,p.P10689L|uc021vsy.2,p.P9445L	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon123	c.C31115T	p.P10372L	KPVPEEKVAVPVPVAKKAPPPRAEV	KPVPEEKVAVPVLVAKKAPPPRAEV	2.0	4.0	unscreened	-	1913_2:179553809-179553809 G>A_KPVPEEKVAVPVLVAKKAPPPRAEV
5:9066643-9066643 C>T	0.0	1913	MELANOMA	-	-	-	-	SEMA5A	uc003jek.2,p.R730Q|ENST00000382496,p.R730Q|NM_003966,p.R730Q	protein_coding, nonsense_mediated_decay	uc003jek.2	nonsynonymous SNV	exon17	c.G2189A	p.R730Q	ISDNGGHYEQRFRYTCKARLADPNL	ISDNGGHYEQRFQYTCKARLADPNL	1.0	9.0	unscreened	-	1913_5:9066643-9066643 C>T_ISDNGGHYEQRFQYTCKARLADPNL
8:110476610-110476610 A>C	0.0	1913	MELANOMA	-	-	-	-	PKHD1L1	uc003yne.3,p.I2517L|NM_177531,p.I2517L|ENST00000378402,p.I2517L	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon49	c.A7549C	p.I2517L	IHNTHHLLVERNIIYDIKGGAFFIE	IHNTHHLLVERNLIYDIKGGAFFIE	1.0	4.0	unscreened	-	1913_8:110476610-110476610 A>C_IHNTHHLLVERNLIYDIKGGAFFIE
1:169578921-169578921 G>A	0.0	1913	MELANOMA	0.0018	-	-	-	SELP	ENST00000263686,p.S385L|uc001ggi.4,p.S385L|ENST00000426706,p.S384L|NM_003005,p.S385L|uc001ggh.3,p.S220L|ENST00000367788,p.S323L|ENST00000367793,p.S323L|uc009wvr.3,p.S385L	protein_coding, processed_transcript	uc009wvr.3	nonsynonymous SNV	exon8	c.C1154T	p.S385L	HWSAPLPTCEAISCEPLESPVHGSM	HWSAPLPTCEAILCEPLESPVHGSM	1.0	7.0	unscreened	-	1913_1:169578921-169578921 G>A_HWSAPLPTCEAILCEPLESPVHGSM
12:21918683-21918683 C>T	0.0	1913	MELANOMA	-	-	-	-	KCNJ8	ENST00000240662,p.G417R|uc001rff.4,p.G417R|NM_004982,p.G417R	protein_coding	uc001rff.4	nonsynonymous SNV	exon3	c.G1249A	p.G417R	LMVPKVQFMTPEGNQNTSES	LMVPKVQFMTPERNQNTSES	1.0	9.0	unscreened	-	1913_12:21918683-21918683 C>T_LMVPKVQFMTPERNQNTSES
19:2877650-2877650 G>A	0.0	1913	MELANOMA	-	-	-	-	ZNF556	NM_024967,p.E232K|uc002lwq.3,p.E231K|uc002lwp.1,p.E232K|ENST00000586426,p.E231K|ENST00000307635,p.E232K|NM_001300843,p.E231K	protein_coding, nonsense_mediated_decay	uc002lwq.3	nonsynonymous SNV	exon4	c.G691A	p.E231K	EHVRTHTGEKPYECGQCGKGFSCPK	EHVRTHTGEKPYKCGQCGKGFSCPK	1.0	8.0	unscreened	-	1913_19:2877650-2877650 G>A_EHVRTHTGEKPYKCGQCGKGFSCPK
14:19553567-19553567 G>A	0.0	1913	MELANOMA	-	-	-	-	POTEG	ENST00000409832,p.D51N|ENST00000552966,p.D51N|NM_001005356,p.D51N|ENST00000547889,p.D51N|uc001vuz.1,p.D51N	protein_coding, nonsense_mediated_decay	uc001vuz.1	nonsynonymous SNV	exon1	c.G151A	p.D51N	GKSNVGTSGDHDDSAMKTLRSKMGK	GKSNVGTSGDHDNSAMKTLRSKMGK	1.0	1.0	unscreened	-	1913_14:19553567-19553567 G>A_GKSNVGTSGDHDNSAMKTLRSKMGK
20:17617227-17617227 C>T	1.0	1913	MELANOMA	-	-	-	-	RRBP1	ENST00000377807,p.G345S|uc010gcl.1,p.G119S|NM_004587,p.G345S|ENST00000377813,p.G778S|ENST00000360807,p.G345S|ENST00000246043,p.G778S|uc002wpv.1,p.G345S|uc002wpu.3,p.G119S|uc002wpw.1,p.G345S|ENST00000455029,p.G119S|NM_001042576,p.G345S	protein_coding, processed_transcript	uc010gcl.1	nonsynonymous SNV	exon5	c.G355A	p.G119S	YREHVKEVQQLQGKIRTLQEQLENG	YREHVKEVQQLQSKIRTLQEQLENG	10.0	5.0	unscreened	-	1913_20:17617227-17617227 C>T_YREHVKEVQQLQSKIRTLQEQLENG
7:23827616-23827616 G>A	0.0	1913	MELANOMA	-	-	-	-	STK31	uc010kuq.4,p.M812I|uc031swr.1,p.M812I|NM_032944,p.M812I|NM_001260505,p.M835I|ENST00000433467,p.M835I|NM_031414,p.M835I|ENST00000354639,p.M812I|ENST00000428484,p.M812I|ENST00000355870,p.M835I|uc003sws.5,p.M835I|uc011jze.3,p.M835I|NM_001260504,p.M812I|uc003swt.5,p.M812I	retained_intron, protein_coding, processed_transcript	uc031swr.1	nonsynonymous SNV	exon21	c.G2436A	p.M812I	NMPLNSEETLKVMKGVAQGLHTLHK	NMPLNSEETLKVIKGVAQGLHTLHK	1.0	5.0	unscreened	-	1913_7:23827616-23827616 G>A_NMPLNSEETLKVIKGVAQGLHTLHK
16:29908275-29908275 G>A	1.0	1913	MELANOMA	-	-	-	-	SEZ6L2	uc010ved.2,p.P83S|ENST00000537485,p.P83S|NM_001243333,p.P83S|uc002dus.4,p.P127S|ENST00000346932,p.P127S|NM_001114100,p.P127S|ENST00000308713,p.P127S|uc010vec.2,p.P127S|NM_201575,p.P127S|uc002duq.4,p.P127S|NM_001243332,p.P127S	retained_intron, protein_coding, processed_transcript	uc010ved.2	nonsynonymous SNV	exon2	c.C247T	p.P83S	AGPTAPELLTPPPGTTAPPPPSPAS	AGPTAPELLTPPSGTTAPPPPSPAS	7.0	9.0	unscreened	-	1913_16:29908275-29908275 G>A_AGPTAPELLTPPSGTTAPPPPSPAS
11:62948195-62948195 G>A	0.0	1913	MELANOMA	-	-	-	-	SLC22A25	uc001nwt.1,p.S336F|uc001nwr.1,p.S336F|ENST00000403374,p.S170F|NM_199352,p.S336F|ENST00000306494,p.S336F	protein_coding, nonsense_mediated_decay	uc001nwt.1	nonsynonymous SNV	exon6	c.C1007T	p.S336F	MKQELEAAQKKHSLCELLRIPNICK	MKQELEAAQKKHFLCELLRIPNICK	1.0	8.0	unscreened	-	1913_11:62948195-62948195 G>A_MKQELEAAQKKHFLCELLRIPNICK
1:152187047-152187047 C>G	0.0	1913	MELANOMA	-	-	-	-	HRNR	NM_001009931,p.G2353A|ENST00000368801,p.G2353A|uc001ezt.2,p.G2353A	protein_coding	uc001ezt.2	nonsynonymous SNV	exon3	c.G7058C	p.G2353A	FGHHESSSWQSSGYTQHGSGSGHSS	FGHHESSSWQSSAYTQHGSGSGHSS	1.0	1.0	unscreened	-	1913_1:152187047-152187047 C>G_FGHHESSSWQSSAYTQHGSGSGHSS
7:87911987-87911987 C>T	0.0	1913	MELANOMA	-	-	-	-	STEAP4	uc003ujs.3,p.R318Q|uc022agz.1,p.R318Q|NM_024636,p.R318Q|ENST00000380079,p.R318Q|NM_001205315,p.R318Q	protein_coding	uc022agz.1	nonsynonymous SNV	exon4	c.G953A	p.R318Q	LYTLVIPIRYYVRWRLGNLTVTQAI	LYTLVIPIRYYVQWRLGNLTVTQAI	1.0	6.0	unscreened	-	1913_7:87911987-87911987 C>T_LYTLVIPIRYYVQWRLGNLTVTQAI
1:175324650-175324650 C>T	0.0	1913	MELANOMA	0.0005	-	-	-	TNR	uc009wwu.1,p.G1080R|ENST00000263525,p.G1080R|uc001gkp.1,p.G1080R|NM_003285,p.G1080R|ENST00000367674,p.G1080R	protein_coding	uc009wwu.1	nonsynonymous SNV	exon17	c.G3238A	p.G1080R	IENYVLTYKSTDGSRKELIVDAEDT	IENYVLTYKSTDRSRKELIVDAEDT	1.0	9.0	unscreened	-	1913_1:175324650-175324650 C>T_IENYVLTYKSTDRSRKELIVDAEDT
1:34034977-34034977 G>A	0.0	1913	MELANOMA	-	-	-	-	CSMD2	uc001bxm.1,p.L2710F|ENST00000373381,p.L2710F|NM_001281956,p.L2710F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxm.1	nonsynonymous SNV	exon52	c.C8128T	p.L2710F	ANGLWSGSEVRCLATQTKLHSIFYK	ANGLWSGSEVRCFATQTKLHSIFYK	1.0	3.0	unscreened	-	1913_1:34034977-34034977 G>A_ANGLWSGSEVRCFATQTKLHSIFYK
19:9088196-9088196 G>A	0.0	1913	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.P1207S|uc002mkp.3,p.P1207S|NM_024690,p.P1207S	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.C3619T	p.P1207S	LPSTTSLTPSNIPTSGAIGKSTLVP	LPSTTSLTPSNISTSGAIGKSTLVP	1.0	3.0	unscreened	-	1913_19:9088196-9088196 G>A_LPSTTSLTPSNISTSGAIGKSTLVP
6:117662625-117662625 G>A	0.0	1913	MELANOMA	-	-	-	1	ROS1	uc003pxp.1,p.P1614S|ENST00000368508,p.P1614S|ENST00000368507,p.P1608S|NM_002944,p.P1614S	protein_coding	uc003pxp.1	nonsynonymous SNV	exon29	c.C4840T	p.P1614S	LIPETPLRQSEFPNGRLTLLVTRLS	LIPETPLRQSEFSNGRLTLLVTRLS	1.0	2.0	unscreened	-	1913_6:117662625-117662625 G>A_LIPETPLRQSEFSNGRLTLLVTRLS
22:26422661-26422661 G>A	0.0	1913	MELANOMA	-	-	ID=COSM229387;OCCURENCE=1(skin)	-	MYO18B	uc010gva.1,p.E224K|uc003abz.1,p.E2241K|NM_032608,p.E2241K|ENST00000335473,p.E2241K|ENST00000536101,p.E2241K|uc010guz.1,p.E2121K|uc011akb.1,p.E1754K|uc003aca.1,p.E2122K|uc011aka.1,p.E1395K|ENST00000407587,p.E2242K|uc010guy.1,p.E2123K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011akb.1	nonsynonymous SNV	exon39	c.G5260A	p.E1754K	ASRSTNTSPLSREKLPSPSAALSEF	ASRSTNTSPLSRKKLPSPSAALSEF	1.0	6.0	unscreened	-	1913_22:26422661-26422661 G>A_ASRSTNTSPLSRKKLPSPSAALSEF
2:31600012-31600012 C>T	0.0	1913	MELANOMA	-	-	-	-	XDH	uc002rnv.1,p.G445E|ENST00000379416,p.G445E|NM_000379,p.G445E	protein_coding, processed_transcript	uc002rnv.1	nonsynonymous SNV	exon14	c.G1334A	p.G445E	KVTSGMRVLFKPGTTEVQELALCYG	KVTSGMRVLFKPETTEVQELALCYG	1.0	4.0	unscreened	-	1913_2:31600012-31600012 C>T_KVTSGMRVLFKPETTEVQELALCYG
19:22499860-22499860 A>C	0.0	1913	MELANOMA	-	-	-	-	ZNF729	uc021urs.1,p.K1214T|NM_001242680,p.K1214T|ENST00000601693,p.K1214T	protein_coding	uc021urs.1	nonsynonymous SNV	exon4	c.A3641C	p.K1214T	YLIRHKTIHTREKPTNVKKVPKLLS	YLIRHKTIHTRETPTNVKKVPKLLS	1.0	1.0	unscreened	-	1913_19:22499860-22499860 A>C_YLIRHKTIHTRETPTNVKKVPKLLS
1:240371270-240371270 C>T	0.0	1913	MELANOMA	-	-	-	-	FMN2	ENST00000319653,p.P1053L|NM_020066,p.P1053L|uc010pyd.2,p.P1053L|uc010pye.2,p.P1057L	protein_coding, processed_transcript	uc010pye.2	nonsynonymous SNV	exon6	c.C3170T	p.P1057L	IPPPPPLPGAGIPPPPPLPGAGIPP	IPPPPPLPGAGILPPPPLPGAGIPP	1.0	9.0	unscreened	-	1913_1:240371270-240371270 C>T_IPPPPPLPGAGILPPPPLPGAGIPP
10:100148216-100148216 G>A	0.0	1913	MELANOMA	-	-	-	-	PYROXD2	ENST00000370575,p.P448S|NM_032709,p.P448S|uc001kpc.3,p.P448S	protein_coding, processed_transcript	uc001kpc.3	nonsynonymous SNV	exon13	c.C1342T	p.P448S	LCIPSSLDPTLAPPGCHVVSLFTQY	LCIPSSLDPTLASPGCHVVSLFTQY	4.0	5.0	unscreened	-	1913_10:100148216-100148216 G>A_LCIPSSLDPTLASPGCHVVSLFTQY
9:94058312-94058312 G>A	1.0	1913	MELANOMA	-	-	-	-	AUH	uc004arg.4,p.P187S|uc004arf.4,p.P216S|ENST00000375731,p.P216S|NM_001698,p.P216S|ENST00000303617,p.P187S	protein_coding, processed_transcript	uc004arg.4	nonsynonymous SNV	exon5	c.C559T	p.P187S	KMGLVETKLAIIPGGGGTQRLPRAI	KMGLVETKLAIISGGGGTQRLPRAI	6.0	4.0	unscreened	-	1913_9:94058312-94058312 G>A_KMGLVETKLAIISGGGGTQRLPRAI
6:146720721-146720721 C>T	0.0	1913	MELANOMA	-	-	-	-	GRM1	uc011edz.2,p.A849V|ENST00000282753,p.A849V|uc010khw.2,p.A849V|NM_001278065,p.A849V|NM_001278064,p.A849V|ENST00000507907,p.A849V|ENST00000361719,p.A849V|uc010khv.2,p.A849V|uc003qll.3,p.A849V|ENST00000492807,p.A849V|ENST00000392299,p.A849V|ENST00000355289,p.A849V|NM_001278066,p.A849V|NM_001278067,p.A849V|uc011eea.2,p.A849V	retained_intron, protein_coding	uc011eea.2	nonsynonymous SNV	exon7	c.C2546T	p.A849V	IIIAKPERNVRSAFTTSDVVRMHVG	IIIAKPERNVRSVFTTSDVVRMHVG	1.0	1.0	unscreened	-	1913_6:146720721-146720721 C>T_IIIAKPERNVRSVFTTSDVVRMHVG
11:3793152-3793152 G>A	1.0	1913	MELANOMA	-	-	ID=COSM1218119;OCCURENCE=1(large_intestine)	1	NUP98	NM_016320,p.R204C|uc001lyi.3,p.R204C|NM_005387,p.R204C|ENST00000397004,p.R204C|uc001lyj.2,p.R204C|uc010qxv.2,p.R167C|ENST00000397007,p.R204C|NM_139131,p.R204C|ENST00000359171,p.R204C|uc001lyk.2,p.R204C|uc001lyh.3,p.R204C|ENST00000324932,p.R204C|ENST00000355260,p.R204C|NM_139132,p.R204C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qxv.2	nonsynonymous SNV	exon7	c.C499T	p.R167C	MKEYESKSLEELRLEDYQANRKGPQ	MKEYESKSLEELCLEDYQANRKGPQ	9.0	8.0	unscreened	-	1913_11:3793152-3793152 G>A_MKEYESKSLEELCLEDYQANRKGPQ
4:42592865-42592865 C>T	0.0	1913	MELANOMA	-	-	-	-	ATP8A1	uc011byz.1,p.E163K|uc003gwr.2,p.E163K|ENST00000381668,p.E163K|NM_006095,p.E163K	retained_intron, protein_coding, nonsense_mediated_decay	uc011byz.1	nonsynonymous SNV	exon7	c.G487A	p.E163K	VAVGEIVKVTNGEHLPADLISLSSS	VAVGEIVKVTNGKHLPADLISLSSS	2.0	9.0	unscreened	-	1913_4:42592865-42592865 C>T_VAVGEIVKVTNGKHLPADLISLSSS
2:68358554-68358554 T>C	1.0	1913	MELANOMA	-	-	-	-	WDR92	NM_138458,p.K297R|uc002see.2,p.K297R|ENST00000295121,p.K297R	retained_intron, protein_coding, processed_transcript	uc002see.2	nonsynonymous SNV	exon8	c.A890G	p.K297R	HLWKYEYPIQRSKKDSEGIEMGVAG	HLWKYEYPIQRSRKDSEGIEMGVAG	7.0	1.0	unscreened	-	1913_2:68358554-68358554 T>C_HLWKYEYPIQRSRKDSEGIEMGVAG
11:122817469-122817469 G>A	1.0	1913	MELANOMA	-	-	-	-	C11orf63	ENST00000227349,p.G633E|ENST00000531316,p.G633E|NM_024806,p.G633E|uc001pym.4,p.G633E	retained_intron, protein_coding	uc001pym.4	nonsynonymous SNV	exon6	c.G1898A	p.G633E	SNSEGYLFQLEKGKKHKKRSSSKNT	SNSEGYLFQLEKEKKHKKRSSSKNT	5.0	9.0	unscreened	-	1913_11:122817469-122817469 G>A_SNSEGYLFQLEKEKKHKKRSSSKNT
5:140553528-140553528 G>A	0.0	1913	MELANOMA	-	-	-	-	PCDHB7	ENST00000231137,p.R371K|NM_018940,p.R371K|uc003lit.3,p.R371K	protein_coding	uc003lit.3	nonsynonymous SNV	exon1	c.G1112A	p.R371K	NSPETVVAVFRIRDRDSGNNGKTVC	NSPETVVAVFRIKDRDSGNNGKTVC	3.0	9.0	unscreened	-	1913_5:140553528-140553528 G>A_NSPETVVAVFRIKDRDSGNNGKTVC
20:9364916-9364916 C>T	0.0	1913	MELANOMA	0.0005	-	-	-	PLCB4	NM_001172646,p.R308C|ENST00000378501,p.R308C|uc002wnh.3,p.R155C|ENST00000334005,p.R308C|uc010gbw.1,p.R308C|ENST00000378493,p.R308C|ENST00000278655,p.R308C|NM_182797,p.R308C|uc010gbx.3,p.R308C|ENST00000414679,p.R308C|uc021wam.1,p.R308C|NM_000933,p.R308C|ENST00000378473,p.R308C|uc021wal.1,p.R308C	protein_coding, processed_transcript	uc021wam.1	nonsynonymous SNV	exon11	c.C922T	p.R308C	LMSDENAPVFLDRLELYQEMDHPLA	LMSDENAPVFLDCLELYQEMDHPLA	1.0	4.0	unscreened	-	1913_20:9364916-9364916 C>T_LMSDENAPVFLDCLELYQEMDHPLA
11:56380101-56380101 C>T	0.0	1913	MELANOMA	-	-	ID=COSM3397853;OCCURENCE=1(central_nervous_system)	-	OR5M1	NM_001004740,p.R293Q|ENST00000526538,p.R293Q|uc001nja.1,p.R293Q	protein_coding	uc001nja.1	nonsynonymous SNV	exon1	c.G878A	p.R293Q	LSPMLNPLIYSLRNTDVILAMQQMI	LSPMLNPLIYSLQNTDVILAMQQMI	1.0	1.0	unscreened	-	1913_11:56380101-56380101 C>T_LSPMLNPLIYSLQNTDVILAMQQMI
12:4919916-4919916 G>A	0.0	1913	MELANOMA	-	-	-	-	KCNA6	uc001qng.3,p.G237S|NM_002235,p.G237S|ENST00000280684,p.G237S|uc021qtr.1,p.G237S|ENST00000433855,p.G237S	protein_coding	uc021qtr.1	nonsynonymous SNV	exon1	c.G709A	p.G237S	EEDEDDSYTFHHGITPGEMGTGGSS	EEDEDDSYTFHHSITPGEMGTGGSS	1.0	2.0	unscreened	-	1913_12:4919916-4919916 G>A_EEDEDDSYTFHHSITPGEMGTGGSS
16:70605706-70605706 A>G	1.0	1913	MELANOMA	-	-	-	-	SF3B3	uc002ezf.3,p.Y1215C|NM_012426,p.Y1215C|ENST00000302516,p.Y1215C	retained_intron, protein_coding, nonsense_mediated_decay	uc002ezf.3	nonsynonymous SNV	exon26	c.A3644G	p.Y1215C	EVSKKLEDIRTRYAF	EVSKKLEDIRTRCAF	10.0	2.0	unscreened	-	1913_16:70605706-70605706 A>G_EVSKKLEDIRTRCAF
14:63174974-63174974 G>A	0.0	1913	MELANOMA	-	-	-	-	KCNH5	uc001xfx.3,p.S740F|NM_139318,p.S740F|ENST00000322893,p.S740F	protein_coding	uc001xfx.3	nonsynonymous SNV	exon11	c.C2219T	p.S740F	DPERNQLQVESRSLQNGASITGTSV	DPERNQLQVESRFLQNGASITGTSV	1.0	3.0	unscreened	-	1913_14:63174974-63174974 G>A_DPERNQLQVESRFLQNGASITGTSV
3:155200559-155200559 G>A	0.0	1913	MELANOMA	-	-	-	-	PLCH1	ENST00000460012,p.P1056S|uc021xgf.1,p.P1056S|NM_014996,p.P1056S|NM_001130960,p.P1094S|ENST00000340059,p.P1094S|ENST00000334686,p.P1056S|ENST00000414191,p.P1056S|uc021xge.1,p.P1094S	retained_intron, protein_coding	uc021xgf.1	nonsynonymous SNV	exon22	c.C3166T	p.P1056S	KSLSPKQHLAPDPVVNPTQDLHGVK	KSLSPKQHLAPDSVVNPTQDLHGVK	2.0	1.0	unscreened	-	1913_3:155200559-155200559 G>A_KSLSPKQHLAPDSVVNPTQDLHGVK
12:13240189-13240189 C>T	0.0	1913	MELANOMA	-	-	ID=COSM226709;OCCURENCE=1(skin)	-	GSG1	NM_001080554,p.G256E|NM_031289,p.G220E|ENST00000351606,p.G256E|uc001rbo.3,p.G256E|uc001rbk.3,p.G220E|uc001rbq.2,p.G256E|ENST00000396302,p.G220E	protein_coding	uc001rbq.2	nonsynonymous SNV	exon6	c.G767A	p.G256E	LCCCFLCPVRSPGDGGPHDVFTSLP	LCCCFLCPVRSPEDGGPHDVFTSLP	1.0	1.0	unscreened	-	1913_12:13240189-13240189 C>T_LCCCFLCPVRSPEDGGPHDVFTSLP
4:126371652-126371652 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1050952,COSM1050953;OCCURENCE=1(endometrium)	1	FAT4	uc011cgp.2,p.E1459K|uc003ifj.4,p.E3161K|ENST00000394329,p.E3161K|ENST00000335110,p.E1459K|NM_024582,p.E3161K|NM_001291303,p.E3163K|NM_001291285,p.E3163K|uc003ifi.1,p.E639K	retained_intron, protein_coding	uc011cgp.2	nonsynonymous SNV	exon9	c.G4375A	p.E1459K	AKALDYELCQKHEMTISAIDGGWVA	AKALDYELCQKHKMTISAIDGGWVA	1.0	9.0	unscreened	-	1913_4:126371652-126371652 G>A_AKALDYELCQKHKMTISAIDGGWVA
10:73206137-73206137 G>A	0.0	1913	MELANOMA	-	-	-	-	CDH23	uc001jrx.4,p.E44K|uc001jrz.3,p.E44K|NM_022124,p.E44K|ENST00000299366,p.E89K|ENST00000398842,p.E44K|NM_001171930,p.E44K|ENST00000461841,p.E89K|ENST00000398809,p.E44K|ENST00000224721,p.E44K|uc009xql.3,p.E44K|NM_001171932,p.E44K|uc021psl.1,p.E44K|uc001jry.3,p.E44K|NM_001171931,p.E44K|uc001jrw.4,p.E44K|NM_052836,p.E44K	protein_coding, processed_transcript	uc021psl.1	nonsynonymous SNV	exon2	c.G130A	p.E44K	TNHFFDTYLLISEDTPVGSSVTQLL	TNHFFDTYLLISKDTPVGSSVTQLL	1.0	5.0	unscreened	-	1913_10:73206137-73206137 G>A_TNHFFDTYLLISKDTPVGSSVTQLL
16:31072993-31072993 G>A	1.0	1913	MELANOMA	-	-	-	-	ZNF668	NM_001172670,p.A419V|ENST00000300849,p.A419V|ENST00000394983,p.A419V|NM_024706,p.A419V|NM_001172668,p.A419V|uc002eao.3,p.A419V|uc021tgt.1,p.A442V|ENST00000538906,p.A419V|ENST00000535577,p.A419V|ENST00000426488,p.A442V|uc010cag.2,p.A419V|uc010caf.3,p.A419V|ENST00000539836,p.A442V|NM_001172669,p.A442V	protein_coding	uc021tgt.1	nonsynonymous SNV	exon4	c.C1325T	p.A442V	LRKHERTHRSSEAAGVPPAQELVVG	LRKHERTHRSSEVAGVPPAQELVVG	7.0	2.0	unscreened	-	1913_16:31072993-31072993 G>A_LRKHERTHRSSEVAGVPPAQELVVG
11:57369560-57369560 G>A	0.0	1913	MELANOMA	-	-	-	-	SERPING1	ENST00000531797,p.R35K|ENST00000531133,p.R35K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000531797	nonsynonymous SNV	exon2	c.G104A	p.R35K	PKQTWRASSLTPRTSPVSTRP	PKQTWRASSLTPKTSPVSTRP	4.0	8.0	unscreened	-	1913_11:57369560-57369560 G>A_PKQTWRASSLTPKTSPVSTRP
9:27173357-27173357 G>A	0.0	1913	MELANOMA	-	-	-	-	TEK	uc011lnp.2,p.E196K|uc003zqj.1,p.E277K|ENST00000406359,p.E300K|ENST00000519097,p.E196K|ENST00000519080,p.E153K|uc011lno.2,p.E300K	protein_coding, nonsense_mediated_decay	uc011lnp.2	nonsynonymous SNV	exon5	c.G586A	p.E196K	SCATGWKGLQCNEGIQRMTPKIVDL	SCATGWKGLQCNKGIQRMTPKIVDL	1.0	9.0	unscreened	-	1913_9:27173357-27173357 G>A_SCATGWKGLQCNKGIQRMTPKIVDL
5:95728713-95728713 C>T	0.0	1913	MELANOMA	-	-	-	-	PCSK1	uc010jbi.2,p.E442K|ENST00000311106,p.E752K|uc021ybq.1,p.E705K|ENST00000508626,p.E705K|uc003kls.2,p.E752K|NM_000439,p.E752K|NM_001177875,p.E705K	protein_coding, processed_transcript	uc021ybq.1	nonsynonymous SNV	exon14	c.G2113A	p.E705K	RLLQALVDILNEEN	RLLQALVDILNEKN	1.0	8.0	unscreened	-	1913_5:95728713-95728713 C>T_RLLQALVDILNEKN
1:161200607-161200607 C>T	0.0	1913	MELANOMA	-	-	-	-	NR1I3	NM_001077480,p.D309N|NM_001077472,p.D281N|uc001fzx.3,p.D309N|NM_001077482,p.D314N|uc001fzl.3,p.D237N|ENST00000367981,p.D281N|uc001fzn.3,p.D99N|uc001gab.3,p.D266N|uc001fzm.3,p.D230N|uc001fzj.3,p.D276N|NM_001077479,p.D276N|ENST00000367979,p.D314N|NM_005122,p.D305N|uc001fzo.3,p.D138N|ENST00000367980,p.D314N|uc001fzy.3,p.D305N|ENST00000367983,p.D305N|uc001fzz.3,p.D271N|NM_001077470,p.D237N|uc001fzt.3,p.D99N|uc001fzh.3,p.D281N|ENST00000367984,p.D266N|uc001fzp.3,p.D314N|ENST00000367985,p.D271N|ENST00000511676,p.D276N|uc021pbw.1,p.D310N|NM_001077481,p.D271N|ENST00000367982,p.D309N|ENST00000515621,p.D230N|ENST00000504010,p.D237N|NM_001077471,p.D266N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pbw.1	nonsynonymous SNV	exon7	c.G928A	p.D310N	QSYIKGQQRRPRDRFLYAKLLGLLA	QSYIKGQQRRPRNRFLYAKLLGLLA	6.0	6.0	unscreened	-	1913_1:161200607-161200607 C>T_QSYIKGQQRRPRNRFLYAKLLGLLA
1:158324174-158324174 G>C	0.0	1913	MELANOMA	-	-	-	-	CD1E	ENST00000434258,p.Q20H|uc010pid.2,p.Q20H	protein_coding, processed_transcript	uc010pid.2	nonsynonymous SNV	exon2	c.G60C	p.Q20H	RYRRRRGSQRAPQALQSYHLAAEEQ	RYRRRRGSQRAPHALQSYHLAAEEQ	1.0	2.0	unscreened	-	1913_1:158324174-158324174 G>C_RYRRRRGSQRAPHALQSYHLAAEEQ
2:141079655-141079655 G>A	1.0	1913	MELANOMA	-	-	-	1	LRP1B	NM_018557,p.P4173S|uc002tvj.1,p.P4173S|ENST00000389484,p.P4173S	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon82	c.C12517T	p.P4173S	VLISHRYKQLDLPNPCLDLACEFLC	VLISHRYKQLDLSNPCLDLACEFLC	3.0	3.0	unscreened	-	1913_2:141079655-141079655 G>A_VLISHRYKQLDLSNPCLDLACEFLC
6:70944532-70944532 C>T	1.0	1913	MELANOMA	-	-	-	-	COL9A1	ENST00000320755,p.G499S|ENST00000370499,p.G499S|NM_078485,p.G499S|uc003pff.4,p.G499S|ENST00000357250,p.G742S|uc003pfe.4,p.G291S|uc003pfg.4,p.G742S|NM_001851,p.G742S	retained_intron, protein_coding, processed_transcript	uc003pfg.4	nonsynonymous SNV	exon34	c.G2224A	p.G742S	GPPGPRGVQGEQGATGLPGVQGPPG	GPPGPRGVQGEQSATGLPGVQGPPG	10.0	9.0	unscreened	-	1913_6:70944532-70944532 C>T_GPPGPRGVQGEQSATGLPGVQGPPG
18:76752623-76752623 C>A	0.0	1913	MELANOMA	-	-	-	-	SALL3	ENST00000537592,p.A211D|ENST00000536229,p.A78D|uc002lmt.3,p.A211D|NM_171999,p.A211D|ENST00000575389,p.A211D	protein_coding, processed_transcript	uc002lmt.3	nonsynonymous SNV	exon2	c.C632A	p.A211D	AAAVPLILEQLMALQQQQIHQLQLI	AAAVPLILEQLMDLQQQQIHQLQLI	1.0	1.0	unscreened	-	1913_18:76752623-76752623 C>A_AAAVPLILEQLMDLQQQQIHQLQLI
8:36664931-36664931 C>T	0.0	1913	MELANOMA	-	-	-	-	KCNU1	ENST00000399881,p.P207S|ENST00000523973,p.P207S|ENST00000522372,p.P207S|uc010lvw.3,p.P207S|NM_001031836,p.P207S	protein_coding, nonsense_mediated_decay	uc010lvw.3	nonsynonymous SNV	exon6	c.C619T	p.P207S	LRFLRALRLLELPQILQILRAIKTS	LRFLRALRLLELSQILQILRAIKTS	1.0	4.0	unscreened	-	1913_8:36664931-36664931 C>T_LRFLRALRLLELSQILQILRAIKTS
3:127642866-127642866 G>A	0.0	1913	MELANOMA	-	-	-	-	KBTBD12	uc003ejz.2,p.G321E|uc010hsr.3,p.G321E|NM_207335,p.G321E|ENST00000405256,p.G321E|ENST00000405109,p.G321E	retained_intron, protein_coding, processed_transcript	uc010hsr.3	nonsynonymous SNV	exon1	c.G962A	p.G321E	YFISSPKYGEGLGTVCTGVVMENNT	YFISSPKYGEGLETVCTGVVMENNT	1.0	2.0	unscreened	-	1913_3:127642866-127642866 G>A_YFISSPKYGEGLETVCTGVVMENNT
19:51165523-51165523 G>A	0.0	1913	MELANOMA	-	-	-	-	SHANK1	ENST00000391814,p.S2070F|uc002psx.1,p.S2062F|ENST00000359082,p.S2053F|NM_016148,p.S2062F|uc002psw.1,p.S1446F|ENST00000293441,p.S2062F|ENST00000391813,p.S1449F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002psx.1	nonsynonymous SNV	exon23	c.C6185T	p.S2062F	FAPVFVPPHPGISGGLGGALSGASR	FAPVFVPPHPGIFGGLGGALSGASR	1.0	6.0	unscreened	-	1913_19:51165523-51165523 G>A_FAPVFVPPHPGIFGGLGGALSGASR
18:7049112-7049112 C>T	0.0	1913	MELANOMA	-	-	ID=COSM269476;OCCURENCE=1(large_intestine)	-	LAMA1	uc002knm.3,p.E245K|ENST00000389658,p.E245K|NM_005559,p.E245K	retained_intron, protein_coding	uc002knm.3	nonsynonymous SNV	exon5	c.G733A	p.E245K	TLNADLMTLSHREPKELDPIVTRRY	TLNADLMTLSHRKPKELDPIVTRRY	3.0	3.0	unscreened	-	1913_18:7049112-7049112 C>T_TLNADLMTLSHRKPKELDPIVTRRY
1:237870347-237870347 C>T	0.0	1913	MELANOMA	-	-	ID=COSM906241;OCCURENCE=1(endometrium)	-	RYR2	uc010pxz.1,p.R182C|ENST00000366574,p.R3227C|ENST00000542537,p.R3211C|uc001hyl.1,p.R3227C|ENST00000360064,p.R3225C|NM_001035,p.R3227C	protein_coding, processed_transcript	uc010pxz.1	nonsynonymous SNV	exon7	c.C544T	p.R182C	MEEIVELAESGIRYTQMPHVMEVIL	MEEIVELAESGICYTQMPHVMEVIL	1.0	3.0	unscreened	-	1913_1:237870347-237870347 C>T_MEEIVELAESGICYTQMPHVMEVIL
12:126138646-126138646 G>A	0.0	1913	MELANOMA	-	-	-	-	TMEM132B	NM_001286219,p.G388E|uc001uhe.1,p.G876E|uc001uhf.1,p.G388E|NM_052907,p.G876E|ENST00000535886,p.G388E|ENST00000299308,p.G876E	retained_intron, protein_coding, processed_transcript	uc001uhf.1	nonsynonymous SNV	exon5	c.G1163A	p.G388E	GGPDAFTSFPTQGKSPDPNNPSDLT	GGPDAFTSFPTQEKSPDPNNPSDLT	1.0	2.0	unscreened	-	1913_12:126138646-126138646 G>A_GGPDAFTSFPTQEKSPDPNNPSDLT
1:196883754-196883754 C>T	0.0	1913	MELANOMA	-	-	-	-	CFHR4	uc009wyy.3,p.S436F|uc001gto.3,p.S190F|NM_001201551,p.S436F|ENST00000367418,p.S190F|NM_006684,p.S190F|uc001gtp.3,p.S437F|ENST00000251424,p.S190F|NM_001201550,p.S437F|ENST00000367416,p.S436F	protein_coding	uc009wyy.3	nonsynonymous SNV	exon8	c.C1307T	p.S436F	DGYEISYGNTTGSIVCGEDGWSHFP	DGYEISYGNTTGFIVCGEDGWSHFP	1.0	3.0	unscreened	-	1913_1:196883754-196883754 C>T_DGYEISYGNTTGFIVCGEDGWSHFP
6:42196193-42196193 C>T	0.0	1913	MELANOMA	-	-	ID=COSM76807;OCCURENCE=1(ovary)	-	TRERF1	uc003osb.2,p.D933N|uc003ose.2,p.D1185N|NM_001297573,p.D1185N|ENST00000541110,p.D1185N|uc011duq.1,p.D1082N|ENST00000354325,p.D1082N|ENST00000372922,p.D1165N|ENST00000340840,p.D1094N|NM_001297574,p.D1185N|ENST00000372917,p.D1094N|uc003osc.2,p.D921N|uc003osd.2,p.D1165N|NM_033502,p.D1165N	protein_coding	uc011duq.1	nonsynonymous SNV	exon13	c.G3244A	p.D1082N	IKPIKDVDILDDDVVQQLGGVMEEA	IKPIKDVDILDDNVVQQLGGVMEEA	1.0	2.0	unscreened	-	1913_6:42196193-42196193 C>T_IKPIKDVDILDDNVVQQLGGVMEEA
2:196661400-196661400 A>G	0.0	1913	MELANOMA	-	-	-	-	DNAH7	ENST00000312428,p.M3472T|uc002utj.4,p.M3472T|NM_018897,p.M3472T	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon56	c.T10415C	p.M3472T	SLSLGQGQGPIAMKMLEKAVKEGTW	SLSLGQGQGPIATKMLEKAVKEGTW	1.0	4.0	unscreened	-	1913_2:196661400-196661400 A>G_SLSLGQGQGPIATKMLEKAVKEGTW
X:144329170-144329170 G>A	0.0	1913	MELANOMA	-	-	-	-	SPANXN1	NM_001009614,p.E22K|uc004fcb.2,p.E22K|ENST00000370493,p.E22K	protein_coding	uc004fcb.2	nonsynonymous SNV	exon1	c.G64A	p.E22K	GEKRKSPCESNNENDEMQETPNRDL	GEKRKSPCESNNKNDEMQETPNRDL	1.0	9.0	unscreened	-	1913_X:144329170-144329170 G>A_GEKRKSPCESNNKNDEMQETPNRDL
10:84711264-84711264 C>T	0.0	1913	MELANOMA	-	-	-	-	NRG3	NM_001010848,p.S365L|uc021pvd.1,p.S144L|uc010qlz.1,p.S364L|ENST00000404547,p.S365L|ENST00000372142,p.S144L|uc021pvc.1,p.S365L|uc021pvi.1,p.S195L|uc021pve.1,p.S169L|uc001kco.2,p.S365L|uc001kcr.2,p.S15L|ENST00000404576,p.S169L|uc021pvg.1,p.S169L|ENST00000556918,p.S195L|uc001kcp.2,p.S144L|ENST00000372141,p.S365L|ENST00000537893,p.S15L|ENST00000545131,p.S15L|uc001kcq.2,p.S15L|uc021pvf.1,p.S15L|NM_001165972,p.S364L|NM_001165973,p.S144L|uc021pvl.1,p.S15L	protein_coding, nonsense_mediated_decay	uc021pvl.1	nonsynonymous SNV	exon3	c.C44T	p.S15L	SEEVYQRQVLSISCIIFGIVIVGMF	SEEVYQRQVLSILCIIFGIVIVGMF	1.0	5.0	unscreened	-	1913_10:84711264-84711264 C>T_SEEVYQRQVLSILCIIFGIVIVGMF
X:107821316-107821316 G>A	0.0	1913	MELANOMA	-	-	-	-	COL4A5	uc022ccg.2,p.M218I|ENST00000328300,p.M218I|uc004enz.2,p.M218I|ENST00000361603,p.M218I|NM_000495,p.M218I	retained_intron, protein_coding, processed_transcript	uc022ccg.2	nonsynonymous SNV	exon12	c.G654A	p.M218I	PGPPGLPGPKGNMGLNFQGPKGEKG	PGPPGLPGPKGNIGLNFQGPKGEKG	1.0	9.0	unscreened	-	1913_X:107821316-107821316 G>A_PGPPGLPGPKGNIGLNFQGPKGEKG
12:125834108-125834108 G>A	0.0	1913	MELANOMA	-	-	-	-	TMEM132B	uc001uhe.1,p.E55K|ENST00000299308,p.E55K|NM_052907,p.E55K	retained_intron, protein_coding, processed_transcript	uc001uhe.1	nonsynonymous SNV	exon2	c.G163A	p.E55K	HISNAEESFFLKEANQDLTRNSSLQ	HISNAEESFFLKKANQDLTRNSSLQ	1.0	8.0	unscreened	-	1913_12:125834108-125834108 G>A_HISNAEESFFLKKANQDLTRNSSLQ
3:140281937-140281937 G>A	0.0	1913	MELANOMA	-	-	-	-	CLSTN2	NM_022131,p.E792K|uc003etn.3,p.E792K|ENST00000458420,p.E792K	retained_intron, protein_coding	uc003etn.3	nonsynonymous SNV	exon15	c.G2374A	p.E792K	SNEFNLEVSILHEDQVSDKEHVNHL	SNEFNLEVSILHKDQVSDKEHVNHL	1.0	1.0	unscreened	-	1913_3:140281937-140281937 G>A_SNEFNLEVSILHKDQVSDKEHVNHL
5:38881695-38881695 G>A	0.0	1913	MELANOMA	-	-	-	-	OSMR	NM_003999,p.G83R|uc003jln.2,p.G83R|ENST00000274276,p.G83R|NM_001168355,p.G83R|uc003jlm.2,p.G83R|ENST00000502536,p.G83R	protein_coding, nonsense_mediated_decay	uc003jln.2	nonsynonymous SNV	exon4	c.G247A	p.G83R	ISRIETSNVIWVGNYSTTVKWNQVL	ISRIETSNVIWVRNYSTTVKWNQVL	1.0	8.0	unscreened	-	1913_5:38881695-38881695 G>A_ISRIETSNVIWVRNYSTTVKWNQVL
19:22940421-22940421 C>T	0.0	1913	MELANOMA	-	-	-	-	ZNF99	ENST00000596209,p.E764K|NM_001080409,p.E764K|ENST00000397104,p.E673K|uc021urt.1,p.E764K	protein_coding	uc021urt.1	nonsynonymous SNV	exon4	c.G2290A	p.E764K	KVIHTAEKPCKCEECGKAFKHFSAL	KVIHTAEKPCKCKECGKAFKHFSAL	1.0	8.0	unscreened	-	1913_19:22940421-22940421 C>T_KVIHTAEKPCKCKECGKAFKHFSAL
2:179647309-179647309 C>T	0.0	1913	MELANOMA	-	-	-	-	TTN	ENST00000360870,p.E1041K|uc021vsz.2,p.E995K|NM_001256850,p.E1041K|NM_001267550,p.E1041K|uc021vtb.2,p.E995K|uc031rqd.1,p.E1041K|NM_003319,p.E995K|ENST00000342992,p.E1041K|ENST00000460472,p.E995K|NM_133432,p.E995K|NM_133437,p.E995K|uc002unb.3,p.E1041K|uc021vta.2,p.E995K|uc031rqc.1,p.E1041K|NM_133379,p.E1041K|uc021vsy.2,p.E1041K|NM_133378,p.E1041K|ENST00000342175,p.E995K|ENST00000359218,p.E995K|ENST00000591111,p.E1041K|ENST00000589042,p.E1041K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon19	c.G3121A	p.E1041K	YLAVQVSEEFEKETTAVTEKFTTEE	YLAVQVSEEFEKKTTAVTEKFTTEE	2.0	4.0	unscreened	-	1913_2:179647309-179647309 C>T_YLAVQVSEEFEKKTTAVTEKFTTEE
2:113818436-113818436 G>A	0.0	1913	MELANOMA	-	-	-	-	IL36RN	NM_173170,p.D13N|ENST00000346807,p.D13N|uc002tis.3,p.D13N|ENST00000437409,p.D13N|NM_012275,p.D13N|uc002tit.3,p.D13N|ENST00000393200,p.D13N	protein_coding	uc002tit.3	nonsynonymous SNV	exon3	c.G37A	p.D13N	MVLSGALCFRMKDSALKVLYLHNNQ	MVLSGALCFRMKNSALKVLYLHNNQ	1.0	7.0	unscreened	-	1913_2:113818436-113818436 G>A_MVLSGALCFRMKNSALKVLYLHNNQ
5:140719013-140719013 G>A	1.0	1913	MELANOMA	-	-	-	-	PCDHGA2	ENST00000394576,p.D159N|NM_032009,p.D159N|uc011dao.2,p.D159N|NM_018915,p.D159N|uc003ljk.2,p.D159N	retained_intron, protein_coding	uc011dao.2	nonsynonymous SNV	exon1	c.G475A	p.D159N	TPGFRIPLKNAHDADVGENALQKYA	TPGFRIPLKNAHNADVGENALQKYA	4.0	8.0	unscreened	-	1913_5:140719013-140719013 G>A_TPGFRIPLKNAHNADVGENALQKYA
7:95219020-95219020 G>A	0.0	1913	MELANOMA	-	-	-	-	PDK4	uc003unz.3,p.P23S|ENST00000005178,p.P235S|uc003uoa.3,p.P235S|NM_002612,p.P235S	retained_intron, protein_coding	uc003uoa.3	nonsynonymous SNV	exon7	c.C703T	p.P235S	PELKLTQVNGKFPDQPIHIVYVPSH	PELKLTQVNGKFSDQPIHIVYVPSH	1.0	4.0	unscreened	-	1913_7:95219020-95219020 G>A_PELKLTQVNGKFSDQPIHIVYVPSH
11:55681910-55681910 C>T	0.0	1913	MELANOMA	-	-	-	-	OR5W2	NM_001001960,p.R50K|uc010rir.2,p.R50K|ENST00000344514,p.R50K	protein_coding	uc010rir.2	nonsynonymous SNV	exon1	c.G149A	p.R50K	NFSANLGMIVLIRMDYQLHTPMYFF	NFSANLGMIVLIKMDYQLHTPMYFF	1.0	9.0	unscreened	-	1913_11:55681910-55681910 C>T_NFSANLGMIVLIKMDYQLHTPMYFF
18:60036100-60036100 C>T	0.0	1913	MELANOMA	-	-	-	-	TNFRSF11A	uc002lin.4,p.P317L|NM_001278268,p.P303L|NM_003839,p.P317L|ENST00000586569,p.P317L|uc031rim.1,p.P303L	retained_intron, protein_coding	uc031rim.1	nonsynonymous SNV	exon9	c.C908T	p.P303L	GGVCQGTCVGGGPYAQGEDARMLSL	GGVCQGTCVGGGLYAQGEDARMLSL	1.0	9.0	unscreened	-	1913_18:60036100-60036100 C>T_GGVCQGTCVGGGLYAQGEDARMLSL
4:13600872-13600872 A>C	1.0	1913	MELANOMA	-	-	-	-	BOD1L1	ENST00000040738,p.F2551C|NM_148894,p.F2551C|uc003gmz.1,p.F2551C|uc010idr.1,p.F1888C	retained_intron, protein_coding, nonsense_mediated_decay	uc010idr.1	nonsynonymous SNV	exon10	c.T5663G	p.F1888C	MPPVQGTVAEHSFLPAEQQGSEDNL	MPPVQGTVAEHSCLPAEQQGSEDNL	7.0	9.0	unscreened	-	1913_4:13600872-13600872 A>C_MPPVQGTVAEHSCLPAEQQGSEDNL
14:19553578-19553578 G>A	0.0	1913	MELANOMA	-	-	ID=COSM697758;OCCURENCE=1(lung)	-	POTEG	NM_001005356,p.M54I|uc001vuz.1,p.M54I|ENST00000552966,p.M54I|ENST00000547889,p.M54I|ENST00000409832,p.M54I	protein_coding, nonsense_mediated_decay	uc001vuz.1	nonsynonymous SNV	exon1	c.G162A	p.M54I	NVGTSGDHDDSAMKTLRSKMGKWCR	NVGTSGDHDDSAIKTLRSKMGKWCR	1.0	1.0	unscreened	-	1913_14:19553578-19553578 G>A_NVGTSGDHDDSAIKTLRSKMGKWCR
14:20020059-20020059 C>T	0.0	1913	MELANOMA	-	-	-	-	POTEM	ENST00000547722,p.M54I|uc001vwc.3,p.M54I|ENST00000551509,p.M54I|ENST00000547848,p.M54I|NM_001145442,p.M54I	protein_coding, nonsense_mediated_decay	uc001vwc.3	nonsynonymous SNV	exon1	c.G162A	p.M54I	NVGTSGDHDDSAMKTLRSKMGKWCR	NVGTSGDHDDSAIKTLRSKMGKWCR	1.0	1.0	unscreened	-	1913_14:20020059-20020059 C>T_NVGTSGDHDDSAIKTLRSKMGKWCR
18:57013193-57013193 ->T	1.0	1913	MELANOMA	-	-	-	-	LMAN1	uc002lhz.3,p.E305fs|ENST00000251047,p.E305fs|NM_005570,p.E305fs	retained_intron, protein_coding, processed_transcript	uc002lhz.3	frameshift insertion	exon8	c.912dupA	p.E305fs	FEHFQQELDKKKEEFQKGHPDLQGQ	FEHFQQELDKKKRGIPEGPPRPPRAACGGNI	9.0	1.0	unscreened	-	1913_18:57013193-57013193 ->T_FEHFQQELDKKKRGIPEGPPRPPRAACGGNI
1:175048505-175048505 C>T	0.0	1913	MELANOMA	-	-	-	-	TNN	ENST00000239462,p.S149F|uc010pmx.1,p.S149F|uc001gkl.1,p.S149F|NM_022093,p.S149F	protein_coding	uc010pmx.1	nonsynonymous SNV	exon2	c.C446T	p.S149F	DLSRHCSGHGTFSLETCSCHCEEGR	DLSRHCSGHGTFFLETCSCHCEEGR	1.0	8.0	unscreened	-	1913_1:175048505-175048505 C>T_DLSRHCSGHGTFFLETCSCHCEEGR
7:141762434-141762434 G>A	0.0	1913	MELANOMA	-	-	-	-	MGAM	ENST00000475668,p.E1397K|uc003vwy.3,p.E1397K|ENST00000549489,p.E1397K|NM_004668,p.E1397K	retained_intron, protein_coding, processed_transcript	uc003vwy.3	nonsynonymous SNV	exon35	c.G4189A	p.E1397K	FFRNSTAKWWKREIEELYNNPQNPE	FFRNSTAKWWKRKIEELYNNPQNPE	4.0	9.0	unscreened	-	1913_7:141762434-141762434 G>A_FFRNSTAKWWKRKIEELYNNPQNPE
16:84224946-84224946 C>A	0.0	1913	MELANOMA	-	-	-	-	ADAD2	ENST00000315906,p.A37D|NM_001145400,p.A37D|NM_139174,p.A37D|uc002fhq.2,p.A37D|uc002fhr.2,p.A37D|ENST00000268624,p.A37D	retained_intron, protein_coding, processed_transcript	uc002fhr.2	nonsynonymous SNV	exon1	c.C110A	p.A37D	ISPQPRPWRPLPAQAQSAWGPAPAP	ISPQPRPWRPLPDQAQSAWGPAPAP	1.0	1.0	unscreened	-	1913_16:84224946-84224946 C>A_ISPQPRPWRPLPDQAQSAWGPAPAP
11:30928221-30928221 C>T	0.0	1913	MELANOMA	-	-	-	-	DCDC5	uc021qfk.1,p.A431T|NM_020869,p.A431T|ENST00000406071,p.A59T|ENST00000597505,p.A1324T|ENST00000339794,p.A403T|uc009yjk.1,p.A772T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qfk.1	nonsynonymous SNV	exon11	c.G1291A	p.A431T	SPDGKRKTMLCLACGQSMRTEKGLK	SPDGKRKTMLCLTCGQSMRTEKGLK	3.0	2.0	unscreened	-	1913_11:30928221-30928221 C>T_SPDGKRKTMLCLTCGQSMRTEKGLK
12:5603420-5603420 C>A	0.0	1913	MELANOMA	-	-	-	-	NTF3	uc001qnk.4,p.R27S|NM_001102654,p.R27S|ENST00000423158,p.R27S|NM_002527,p.R14S|uc001qnl.4,p.R14S|ENST00000331010,p.R14S	protein_coding, processed_transcript	uc001qnl.4	nonsynonymous SNV	exon1	c.C40A	p.R14S	SILFYVIFLAYLRGIQGNNMDQRSL	SILFYVIFLAYLSGIQGNNMDQRSL	1.0	2.0	unscreened	-	1913_12:5603420-5603420 C>A_SILFYVIFLAYLSGIQGNNMDQRSL
1:152278895-152278895 C>T	0.0	1913	MELANOMA	-	-	-	-	FLG	NM_002016,p.G2823R|ENST00000368799,p.G2823R|uc001ezu.1,p.G2823R	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.G8467A	p.G2823R	HSGSHHSHTTSQGRSDASRGQSGSR	HSGSHHSHTTSQRRSDASRGQSGSR	3.0	1.0	unscreened	-	1913_1:152278895-152278895 C>T_HSGSHHSHTTSQRRSDASRGQSGSR
3:97887556-97887556 A>T	0.0	1913	MELANOMA	-	-	-	-	OR5H15	uc011bgu.2,p.N5Y|ENST00000356526,p.N5Y|NM_001005515,p.N5Y	protein_coding	uc011bgu.2	nonsynonymous SNV	exon1	c.A13T	p.N5Y	MEEENATLLTEFVLTGF	MEEEYATLLTEFVLTGF	1.0	3.0	unscreened	-	1913_3:97887556-97887556 A>T_MEEEYATLLTEFVLTGF
15:24923196-24923196 C>T	0.0	1913	MELANOMA	-	-	-	-	NPAP1	NM_018958,p.P728S|ENST00000329468,p.P728S|uc001ywo.3,p.P728S	protein_coding	uc001ywo.3	nonsynonymous SNV	exon1	c.C2182T	p.P728S	VSKKYLPFYLGLPGSGNTQPSGNTA	VSKKYLPFYLGLSGSGNTQPSGNTA	1.0	8.0	unscreened	-	1913_15:24923196-24923196 C>T_VSKKYLPFYLGLSGSGNTQPSGNTA
12:81747105-81747105 C>T	0.0	1913	MELANOMA	-	-	-	-	PPFIA2	uc031qix.1,p.G596E|uc031qih.1,p.G163E|uc031qio.1,p.G596E|uc031qil.1,p.G497E|uc031qim.1,p.G596E|uc031qiw.1,p.G596E|ENST00000550359,p.G443E|uc031qiv.1,p.G497E|NM_001220477,p.G522E|uc031qiq.1,p.G578E|NM_001220478,p.G497E|NM_001220473,p.G596E|ENST00000550584,p.G596E|NM_001220476,p.G596E|NM_001282536,p.G443E|uc031qip.1,p.G596E|NM_003625,p.G596E|uc031qiy.1,p.G596E|NM_001220475,p.G596E|ENST00000549396,p.G596E|uc031qiu.1,p.G522E|NM_001220474,p.G578E|ENST00000333447,p.G578E|ENST00000407050,p.G522E|uc031qii.1,p.G163E|uc031qik.1,p.G522E|ENST00000443686,p.G497E|uc031qin.1,p.G578E|ENST00000548586,p.G596E|NM_001220479,p.G163E|ENST00000553058,p.G177E|uc031qir.1,p.G596E|ENST00000549325,p.G578E|uc031qis.1,p.G596E|ENST00000552948,p.G596E|ENST00000541570,p.G163E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qiy.1	nonsynonymous SNV	exon15	c.G1787A	p.G596E	GVRRDEPKVKSLGDHEWNRTQQIGV	GVRRDEPKVKSLEDHEWNRTQQIGV	4.0	1.0	unscreened	-	1913_12:81747105-81747105 C>T_GVRRDEPKVKSLEDHEWNRTQQIGV
9:27173357-27173357 G>A	0.0	1913	MELANOMA	-	-	-	-	TEK	NM_001290077,p.E300K|NM_001290078,p.E196K	protein_coding, nonsense_mediated_decay	NM_001290078	nonsynonymous SNV	exon5	c.G586A	p.E196K	SCATGWKGLQCNEGIPRMTPKIVDL	SCATGWKGLQCNKGIPRMTPKIVDL	1.0	9.0	unscreened	-	1913_9:27173357-27173357 G>A_SCATGWKGLQCNKGIPRMTPKIVDL
3:38647610-38647610 C>T	0.0	1913	MELANOMA	-	-	-	-	SCN5A	ENST00000450102,p.M390I|ENST00000451551,p.M390I|uc021wvu.1,p.M390I|uc021wvm.1,p.M390I|NM_001099404,p.M390I|uc021wvl.1,p.M390I|uc021wvi.1,p.M256I|ENST00000414099,p.M390I|uc021wvq.1,p.M390I|ENST00000443581,p.M390I|ENST00000333535,p.M390I|uc021wvv.1,p.M390I|NM_001160160,p.M390I|uc021wvs.1,p.M390I|uc021wvo.1,p.M390I|uc021wvt.1,p.M390I|uc021wvr.1,p.M390I|uc021wvp.1,p.M390I|uc021wvj.1,p.M256I|NM_001099405,p.M390I|NM_001160161,p.M390I|ENST00000425664,p.M390I|uc021wvn.1,p.M390I|ENST00000413689,p.M390I|ENST00000449557,p.M390I|NM_198056,p.M390I|ENST00000423572,p.M390I|uc021wvk.1,p.M390I|ENST00000455624,p.M390I|NM_000335,p.M390I	retained_intron, protein_coding, processed_transcript	uc021wvv.1	nonsynonymous SNV	exon10	c.G1170A	p.M390I	YQQTLRSAGKIYMIFFMLVIFLGSF	YQQTLRSAGKIYIIFFMLVIFLGSF	1.0	4.0	unscreened	-	1913_3:38647610-38647610 C>T_YQQTLRSAGKIYIIFFMLVIFLGSF
15:24921768-24921768 C>T	0.0	1913	MELANOMA	-	-	-	-	NPAP1	ENST00000329468,p.L252F|NM_018958,p.L252F|uc001ywo.3,p.L252F	protein_coding	uc001ywo.3	nonsynonymous SNV	exon1	c.C754T	p.L252F	PSTHSQAGCARHLGKPDPDATAPPE	PSTHSQAGCARHFGKPDPDATAPPE	1.0	9.0	unscreened	-	1913_15:24921768-24921768 C>T_PSTHSQAGCARHFGKPDPDATAPPE
3:122630904-122630904 G>A	0.0	1913	MELANOMA	-	-	-	-	SEMA5B	ENST00000195173,p.P968L	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000195173	nonsynonymous SNV	exon20	c.C2903T	p.P968L	ALCATQACPGWSPWSEWSKCTDDGA	ALCATQACPGWSLWSEWSKCTDDGA	1.0	5.0	unscreened	-	1913_3:122630904-122630904 G>A_ALCATQACPGWSLWSEWSKCTDDGA
5:13729589-13729589 C>T	0.0	1913	MELANOMA	-	-	ID=COSM735588;OCCURENCE=1(lung)	-	DNAH5	ENST00000265104,p.E3948K|NM_001369,p.E3948K|uc003jfc.2,p.E116K|uc003jfd.2,p.E3948K	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon69	c.G11842A	p.E3948K	KWILDITWLNLVELSKLRQFSDVLD	KWILDITWLNLVKLSKLRQFSDVLD	1.0	1.0	unscreened	-	1913_5:13729589-13729589 C>T_KWILDITWLNLVKLSKLRQFSDVLD
9:14776185-14776185 C>T	0.0	1913	MELANOMA	-	-	-	-	FREM1	ENST00000422223,p.G1487R|ENST00000380881,p.G1488R|NM_144966,p.G1487R|uc003zlm.3,p.G1487R|ENST00000380880,p.G1487R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zlm.3	nonsynonymous SNV	exon26	c.G4459A	p.G1487R	VSSDRFRFIISNGLRTEHGVFEITL	VSSDRFRFIISNRLRTEHGVFEITL	1.0	9.0	unscreened	-	1913_9:14776185-14776185 C>T_VSSDRFRFIISNRLRTEHGVFEITL
19:46832554-46832554 G>A	0.0	1913	MELANOMA	-	-	-	-	HIF3A	uc010xxy.2,p.A442T|uc002peg.4,p.A511T|uc002peh.3,p.A511T|ENST00000600383,p.A442T|ENST00000377670,p.A511T|NM_152795,p.A511T|uc002pel.3,p.A509T|NM_152794,p.A509T|ENST00000420102,p.A460T|ENST00000244303,p.A442T|ENST00000339613,p.A455T|uc010xxz.2,p.A460T|ENST00000300862,p.A509T|NM_022462,p.A442T|uc021uwf.1,p.A455T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021uwf.1	nonsynonymous SNV	exon12	c.G1363A	p.A455T	DFQLNASEQLPRAYHRPLGAVPRPR	DFQLNASEQLPRTYHRPLGAVPRPR	1.0	4.0	unscreened	-	1913_19:46832554-46832554 G>A_DFQLNASEQLPRTYHRPLGAVPRPR
10:90362336-90362336 C>T	0.0	1913	MELANOMA	-	-	-	-	LIPJ	ENST00000531458,p.R58C	retained_intron, protein_coding	ENST00000531458	nonsynonymous SNV	exon3	c.C172T	p.R58C	RMTYKWKSIVMSRLDVYFSHNPAGT	RMTYKWKSIVMSCLDVYFSHNPAGT	1.0	3.0	unscreened	-	1913_10:90362336-90362336 C>T_RMTYKWKSIVMSCLDVYFSHNPAGT
1:156873783-156873783 A>G	0.0	1913	MELANOMA	-	-	-	-	PEAR1	ENST00000455314,p.N22S|NM_001080471,p.N22S|ENST00000444016,p.N22S|ENST00000292357,p.N22S|uc001fqj.1,p.N22S|ENST00000338302,p.N22S	retained_intron, protein_coding, nonsense_mediated_decay	uc001fqj.1	nonsynonymous SNV	exon2	c.A65G	p.N22S	LLAVGLRLAGTLNPSDPNTCSFWES	LLAVGLRLAGTLSPSDPNTCSFWES	1.0	7.0	unscreened	-	1913_1:156873783-156873783 A>G_LLAVGLRLAGTLSPSDPNTCSFWES
11:7720315-7720315 G>A	0.0	1913	MELANOMA	-	-	-	-	OVCH2	ENST00000454689,p.R303W|NM_198185,p.R303W|uc031pyw.1,p.R303W	protein_coding, processed_transcript, polymorphic_pseudogene	uc031pyw.1	nonsynonymous SNV	exon8	c.C907T	p.R303W	LPWIHEHIQTGNRRKSSRAWCSEQD	LPWIHEHIQTGNWRKSSRAWCSEQD	2.0	1.0	unscreened	-	1913_11:7720315-7720315 G>A_LPWIHEHIQTGNWRKSSRAWCSEQD
10:51556844-51556844 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1702369;OCCURENCE=1(skin)	-	MSMB	ENST00000358559,p.S68L|uc001jiq.3,p.S68L|NM_002443,p.S68L	protein_coding, processed_transcript	uc001jiq.3	nonsynonymous SNV	exon3	c.C203T	p.S68L	NCETCTCYETEISCCTLVSTPVGYD	NCETCTCYETEILCCTLVSTPVGYD	1.0	3.0	unscreened	-	1913_10:51556844-51556844 C>T_NCETCTCYETEILCCTLVSTPVGYD
8:108348406-108348406 C>T	0.0	1913	MELANOMA	-	-	-	-	ANGPT1	uc003ymo.3,p.E183K|NM_001199859,p.E183K|NM_001146,p.E183K|ENST00000517746,p.E183K|ENST00000297450,p.E183K|uc003ymn.3,p.E183K	retained_intron, protein_coding, processed_transcript	uc003ymo.3	nonsynonymous SNV	exon3	c.G547A	p.E183K	YKLEKQLLQQTNEILKIHEKNSLLE	YKLEKQLLQQTNKILKIHEKNSLLE	1.0	4.0	unscreened	-	1913_8:108348406-108348406 C>T_YKLEKQLLQQTNKILKIHEKNSLLE
11:92533714-92533714 G>A	0.0	1913	MELANOMA	-	-	-	2	FAT3	ENST00000298047,p.G2512E|ENST00000409404,p.G2512E|uc001pdj.4,p.G2512E|ENST00000525166,p.G2362E|NM_001008781,p.G2512E	retained_intron, protein_coding, processed_transcript	uc001pdj.4	nonsynonymous SNV	exon9	c.G7535A	p.G2512E	TYVAEVRENVAAGTKVIHVRATDGD	TYVAEVRENVAAETKVIHVRATDGD	1.0	1.0	unscreened	-	1913_11:92533714-92533714 G>A_TYVAEVRENVAAETKVIHVRATDGD
2:179209013-179209013 G>A	0.0	1913	MELANOMA	-	-	-	-	OSBPL6	uc002uma.3,p.E309K|uc002uly.3,p.E330K|NM_145739,p.E309K|ENST00000392505,p.E330K|NM_001201480,p.E330K|ENST00000315022,p.E309K	protein_coding, processed_transcript	uc002uma.3	nonsynonymous SNV	exon10	c.G925A	p.E309K	KSVSKDTKIQLQEGPPAKGQFSTTR	KSVSKDTKIQLQKGPPAKGQFSTTR	6.0	5.0	unscreened	-	1913_2:179209013-179209013 G>A_KSVSKDTKIQLQKGPPAKGQFSTTR
13:37679314-37679314 G>A	0.0	1913	MELANOMA	-	-	-	-	CSNK1A1L	uc001uwm.1,p.S27F|NM_145203,p.S27F|ENST00000379800,p.S27F	protein_coding	uc001uwm.1	nonsynonymous SNV	exon1	c.C80T	p.S27F	GKYKLVRKIGSGSFGDVYLGITTTN	GKYKLVRKIGSGFFGDVYLGITTTN	1.0	9.0	unscreened	-	1913_13:37679314-37679314 G>A_GKYKLVRKIGSGFFGDVYLGITTTN
9:104357080-104357080 C>T	0.0	1913	MELANOMA	-	-	-	-	PPP3R2	uc004bbr.3,p.E45K|NM_147180,p.E45K|ENST00000374806,p.E45K	protein_coding	uc004bbr.3	nonsynonymous SNV	exon1	c.G133A	p.E45K	LDLDKSGSLSVEEFMSLPELRHNPL	LDLDKSGSLSVEKFMSLPELRHNPL	1.0	6.0	unscreened	-	1913_9:104357080-104357080 C>T_LDLDKSGSLSVEKFMSLPELRHNPL
19:9049740-9049740 T>G	0.0	1913	MELANOMA	-	-	-	2	MUC16	NM_024690,p.S10631R|uc002mkp.3,p.S10631R|ENST00000397910,p.S10631R	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon5	c.A31891C	p.S10631R	HSELDTVSSTATSHGADVSSAIPTN	HSELDTVSSTATRHGADVSSAIPTN	1.0	9.0	unscreened	-	1913_19:9049740-9049740 T>G_HSELDTVSSTATRHGADVSSAIPTN
4:104577377-104577377 G>A	0.0	1913	MELANOMA	-	-	-	-	TACR3	uc003hxe.1,p.H288Y|NM_001059,p.H288Y|ENST00000304883,p.H288Y	protein_coding	uc003hxe.1	nonsynonymous SNV	exon3	c.C862T	p.H288Y	GGEIPGDTCDKYHEQLKAKRKVVKM	GGEIPGDTCDKYYEQLKAKRKVVKM	1.0	9.0	unscreened	-	1913_4:104577377-104577377 G>A_GGEIPGDTCDKYYEQLKAKRKVVKM
5:41159289-41159289 G>A	0.0	1913	MELANOMA	-	-	ID=COSM279429;OCCURENCE=1(large_intestine),2(endometrium),1(central_nervous_system)	-	C6	uc003jml.2,p.S584L|NM_000065,p.S584L|ENST00000337836,p.S584L|NM_001115131,p.S584L|ENST00000263413,p.S584L|uc003jmk.3,p.S584L	retained_intron, protein_coding, processed_transcript	uc003jml.2	nonsynonymous SNV	exon12	c.C1751T	p.S584L	SSWSTCDATYKRSRTRECNNPAPQR	SSWSTCDATYKRLRTRECNNPAPQR	1.0	8.0	unscreened	-	1913_5:41159289-41159289 G>A_SSWSTCDATYKRLRTRECNNPAPQR
4:154626008-154626008 G>A	0.0	1913	MELANOMA	-	-	-	-	TLR2	ENST00000260010,p.R650Q|NM_003264,p.R650Q|uc003ins.3,p.R650Q|uc021xtl.1,p.R650Q|uc003inq.3,p.R650Q|uc003inr.3,p.R650Q	protein_coding	uc021xtl.1	nonsynonymous SNV	exon1	c.G1949A	p.R650Q	NICYDAFVSYSERDAYWVENLMVQE	NICYDAFVSYSEQDAYWVENLMVQE	3.0	9.0	unscreened	-	1913_4:154626008-154626008 G>A_NICYDAFVSYSEQDAYWVENLMVQE
7:110763988-110763988 G>A	0.0	1913	MELANOMA	-	-	-	-	LRRN3	NM_001099660,p.R387Q|uc022akc.1,p.R387Q|ENST00000422987,p.R387Q|ENST00000308478,p.R387Q|uc003vfu.4,p.R387Q|NM_001099658,p.R387Q|uc003vfs.4,p.R387Q|ENST00000451085,p.R387Q|uc003vft.4,p.R387Q|NM_018334,p.R387Q	protein_coding, processed_transcript	uc022akc.1	nonsynonymous SNV	exon1	c.G1160A	p.R387Q	VIRWMNMNKTNIRFMEPDSLFCVDP	VIRWMNMNKTNIQFMEPDSLFCVDP	1.0	4.0	unscreened	-	1913_7:110763988-110763988 G>A_VIRWMNMNKTNIQFMEPDSLFCVDP
19:55493908-55493908 G>A	0.0	1913	MELANOMA	-	-	-	-	NLRP2	ENST00000391721,p.R257Q|uc010yfp.2,p.R258Q|uc010esp.3,p.R259Q|uc010eso.3,p.R278Q|ENST00000538819,p.R257Q|ENST00000339757,p.R259Q|uc002qij.3,p.R281Q|NM_001174083,p.R258Q|NM_017852,p.R281Q|uc010esn.3,p.R257Q|NM_001174081,p.R281Q|ENST00000543010,p.R281Q|ENST00000448584,p.R281Q|ENST00000427260,p.R258Q|ENST00000263437,p.R278Q|NM_001174082,p.R259Q|ENST00000537859,p.R259Q|uc021vbq.1,p.R281Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vbq.1	nonsynonymous SNV	exon6	c.G842A	p.R281Q	LQDDIPHILAQARKILFVIDGFDEL	LQDDIPHILAQAQKILFVIDGFDEL	1.0	5.0	unscreened	-	1913_19:55493908-55493908 G>A_LQDDIPHILAQAQKILFVIDGFDEL
10:116417830-116417830 C>T	0.0	1913	MELANOMA	-	-	-	-	ABLIM1	uc021pyw.1,p.V44I|NM_002313,p.V44I|ENST00000277895,p.V44I|uc021pyx.1,p.V44I	protein_coding, processed_transcript	uc021pyx.1	nonsynonymous SNV	exon1	c.G130A	p.V44I	SNRKRLIVEDRRVSGTSFTAHRRAT	SNRKRLIVEDRRISGTSFTAHRRAT	1.0	5.0	unscreened	-	1913_10:116417830-116417830 C>T_SNRKRLIVEDRRISGTSFTAHRRAT
11:76924066-76924066 G>A	0.0	1913	MELANOMA	0.03	-	ID=COSM1561970;OCCURENCE=1(large_intestine)	-	MYO7A	ENST00000409619,p.D2093N|ENST00000458169,p.D1284N|ENST00000409709,p.D2142N|uc001oyb.2,p.D2142N|ENST00000458637,p.D2102N|NM_001127180,p.D2102N|NM_000260,p.D2142N|uc001oyc.2,p.D2102N	retained_intron, protein_coding, processed_transcript	uc001oyc.2	nonsynonymous SNV	exon47	c.G6304A	p.D2102N	LIAINKYGVSLIDPKTKDILTTHPF	LIAINKYGVSLINPKTKDILTTHPF	1.0	2.0	unscreened	-	1913_11:76924066-76924066 G>A_LIAINKYGVSLINPKTKDILTTHPF
9:113170362-113170362 A>C	0.0	1913	MELANOMA	-	-	-	-	SVEP1	ENST00000374469,p.N2483K|ENST00000401783,p.N2506K|NM_153366,p.N2506K|uc010mtz.3,p.N2506K|ENST00000297826,p.N432K|uc010mty.3,p.N432K	protein_coding, processed_transcript	uc010mtz.3	nonsynonymous SNV	exon38	c.T7518G	p.N2506K	KAIECLKPKEILNGKFSYTDLHYGQ	KAIECLKPKEILKGKFSYTDLHYGQ	1.0	9.0	unscreened	-	1913_9:113170362-113170362 A>C_KAIECLKPKEILKGKFSYTDLHYGQ
12:117964916-117964916 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1719341,COSM1719340;OCCURENCE=2(NS)	-	KSR2	NM_173598,p.G575E|ENST00000302438,p.G301E|ENST00000425217,p.G575E|uc001two.2,p.G575E|ENST00000339824,p.G604E	retained_intron, protein_coding, processed_transcript	uc001two.2	nonsynonymous SNV	exon13	c.G1724A	p.G575E	ILHPVTSNPILEGNPLLQIEVEPTS	ILHPVTSNPILEENPLLQIEVEPTS	1.0	9.0	unscreened	-	1913_12:117964916-117964916 C>T_ILHPVTSNPILEENPLLQIEVEPTS
10:45799119-45799119 C>T	0.0	1913	MELANOMA	-	-	-	-	OR13A1	uc001jcd.1,p.G247E|ENST00000536058,p.G251E|ENST00000374401,p.G251E|NM_001004297,p.G251E|ENST00000553795,p.G251E|uc021ppq.1,p.G251E|uc001jcc.1,p.G251E	protein_coding	uc021ppq.1	nonsynonymous SNV	exon1	c.G752A	p.G251E	IVSSILKVKTAWGRQKAFSTCSSHL	IVSSILKVKTAWERQKAFSTCSSHL	1.0	4.0	unscreened	-	1913_10:45799119-45799119 C>T_IVSSILKVKTAWERQKAFSTCSSHL
7:34014347-34014347 G>A	1.0	1913	MELANOMA	-	-	-	-	BMPER	ENST00000436222,p.G143R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000436222	nonsynonymous SNV	exon5	c.G427A	p.G143R	QAVCLRVCSIKKGRNFSQKEANVPS	QAVCLRVCSIKKRRNFSQKEANVPS	5.0	4.0	unscreened	-	1913_7:34014347-34014347 G>A_QAVCLRVCSIKKRRNFSQKEANVPS
8:68956804-68956804 G>A	0.0	1913	MELANOMA	-	-	-	1	PREX2	NM_024870,p.E308K|uc003xxu.1,p.E308K|uc003xxv.1,p.E308K|uc011lez.1,p.E243K|ENST00000288368,p.E308K|NM_025170,p.E308K	protein_coding, processed_transcript	uc011lez.1	nonsynonymous SNV	exon6	c.G727A	p.E243K	FRGRINTEVMEVENVDDGTADFHSS	FRGRINTEVMEVKNVDDGTADFHSS	1.0	3.0	unscreened	-	1913_8:68956804-68956804 G>A_FRGRINTEVMEVKNVDDGTADFHSS
12:95927242-95927242 C>T	0.0	1913	MELANOMA	-	-	-	-	USP44	ENST00000258499,p.R264Q|ENST00000552440,p.R264Q|NM_032147,p.R264Q|uc001teh.3,p.R264Q|uc009zte.3,p.R261Q|ENST00000537435,p.R264Q|uc001teg.3,p.R264Q|NM_001278393,p.R264Q|NM_001042403,p.R264Q|ENST00000393091,p.R264Q	retained_intron, protein_coding, processed_transcript	uc009zte.3	nonsynonymous SNV	exon2	c.G782A	p.R261Q	EISQKVSDSSVKRRPIVTPGVTGLR	EISQKVSDSSVKQRPIVTPGVTGLR	1.0	9.0	unscreened	-	1913_12:95927242-95927242 C>T_EISQKVSDSSVKQRPIVTPGVTGLR
13:27256809-27256809 C>T	0.0	1913	MELANOMA	-	-	-	-	WASF3	NM_006646,p.P350L|ENST00000361042,p.P347L|NM_001291965,p.P347L|uc001uqv.3,p.P350L|ENST00000335327,p.P350L|uc001uqw.3,p.P347L	protein_coding, processed_transcript	uc001uqw.3	nonsynonymous SNV	exon9	c.C1040T	p.P347L	YNPSGPPPPPPPPVIPSAQTAFVSP	YNPSGPPPPPPPLVIPSAQTAFVSP	1.0	9.0	unscreened	-	1913_13:27256809-27256809 C>T_YNPSGPPPPPPPLVIPSAQTAFVSP
1:74506937-74506937 T>C	0.0	1913	MELANOMA	-	-	-	-	LRRIQ3	ENST00000354431,p.K560E|uc001dfy.4,p.K560E|NM_001105659,p.K560E|ENST00000395089,p.K560E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001dfy.4	nonsynonymous SNV	exon7	c.A1678G	p.K560E	KSLIVKQKLKAEKYRKNLLKEMKKV	KSLIVKQKLKAEEYRKNLLKEMKKV	4.0	9.0	unscreened	-	1913_1:74506937-74506937 T>C_KSLIVKQKLKAEEYRKNLLKEMKKV
10:31134000-31134000 G>A	1.0	1913	MELANOMA	-	-	-	-	ZNF438	ENST00000452305,p.H783Y|NM_001143767,p.H793Y|NM_182755,p.H793Y|ENST00000375311,p.H357Y|NM_001143770,p.H783Y|ENST00000538351,p.H744Y|uc010qea.2,p.H793Y|ENST00000331737,p.H783Y|uc009xlg.3,p.H793Y|uc010qeb.2,p.H793Y|NM_001143769,p.H744Y|ENST00000361310,p.H793Y|uc001ivo.4,p.H357Y|ENST00000444692,p.H783Y|ENST00000413025,p.H793Y|NM_001143766,p.H793Y|ENST00000436087,p.H793Y|uc001ivp.4,p.H783Y|uc010qdz.2,p.H793Y|NM_001143771,p.H783Y|NM_001143768,p.H793Y|uc010qdy.2,p.H783Y|uc001ivn.3,p.H744Y|ENST00000442986,p.H793Y	protein_coding	uc010qeb.2	nonsynonymous SNV	exon6	c.C2377T	p.H793Y	CAEMLGRKEDLLHHWKHQHNCEDPS	CAEMLGRKEDLLYHWKHQHNCEDPS	5.0	6.0	unscreened	-	1913_10:31134000-31134000 G>A_CAEMLGRKEDLLYHWKHQHNCEDPS
8:95172282-95172282 G>A	0.0	1913	MELANOMA	-	-	-	2	CDH17	uc011lgo.1,p.H276Y|NM_004063,p.H490Y|ENST00000441892,p.H276Y|NM_001144663,p.H490Y|uc011lgp.1,p.H490Y|uc003ygh.2,p.H490Y|ENST00000450165,p.H490Y|ENST00000027335,p.H490Y	protein_coding, nonsense_mediated_decay	uc011lgp.1	nonsynonymous SNV	exon12	c.C1468T	p.H490Y	DEPFTGSSKILYHIIKGDSEGRLGV	DEPFTGSSKILYYIIKGDSEGRLGV	4.0	3.0	unscreened	-	1913_8:95172282-95172282 G>A_DEPFTGSSKILYYIIKGDSEGRLGV
15:74483772-74483772 C>T	0.0	1913	MELANOMA	-	-	-	-	STRA6	ENST00000395105,p.G261R|uc010ulh.2,p.G299R|uc010uli.2,p.G298R|uc002axi.3,p.G70R|ENST00000416286,p.G253R|NM_001142617,p.G261R|NM_001142618,p.G261R|ENST00000423167,p.G252R|ENST00000563965,p.G300R|NM_001199040,p.G298R|NM_022369,p.G261R|uc002axk.3,p.G261R|NM_001142619,p.G252R|uc021sqg.1,p.G276R|uc002axj.3,p.G300R|uc010bji.3,p.G261R|uc002axl.3,p.G193R|ENST00000574278,p.G276R|ENST00000535552,p.G298R|uc002axn.3,p.G252R|NM_001199041,p.G276R|NM_001199042,p.G300R|ENST00000323940,p.G261R|uc002axm.3,p.G261R|ENST00000449139,p.G261R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021sqg.1	nonsynonymous SNV	exon9	c.G826A	p.G276R	EYLRNLLCRKKLGSSYHTSKHGFLS	EYLRNLLCRKKLRSSYHTSKHGFLS	1.0	2.0	unscreened	-	1913_15:74483772-74483772 C>T_EYLRNLLCRKKLRSSYHTSKHGFLS
22:41968079-41968079 G>A	0.0	1913	MELANOMA	-	-	-	-	CSDC2	ENST00000306149,p.R37Q|ENST00000460790,p.R20Q|uc003bak.1,p.R37Q|NM_014460,p.R37Q	protein_coding	uc003bak.1	nonsynonymous SNV	exon2	c.G110A	p.R37Q	FPFHREGSRVWERGGVPPRDLPSPL	FPFHREGSRVWEQGGVPPRDLPSPL	6.0	3.0	unscreened	-	1913_22:41968079-41968079 G>A_FPFHREGSRVWEQGGVPPRDLPSPL
2:99438328-99438328 C>T	0.0	1913	MELANOMA	-	-	-	-	KIAA1211L	ENST00000397899,p.R803K|NM_207362,p.R803K|uc002szf.1,p.R803K	protein_coding, processed_transcript	uc002szf.1	nonsynonymous SNV	exon7	c.G2408A	p.R803K	KEPRTAEKRPLRRGAEKSLPPAATG	KEPRTAEKRPLRKGAEKSLPPAATG	1.0	3.0	unscreened	-	1913_2:99438328-99438328 C>T_KEPRTAEKRPLRKGAEKSLPPAATG
7:107710246-107710246 C>T	0.0	1913	MELANOMA	-	-	-	-	LAMB4	uc003vey.2,p.E737K|ENST00000388780,p.E737K|NM_007356,p.E737K|ENST00000205386,p.E737K|ENST00000388781,p.E737K|uc010ljo.1,p.E737K	retained_intron, protein_coding, processed_transcript	uc010ljo.1	nonsynonymous SNV	exon18	c.G2209A	p.E737K	QDLDEYQLHNCVEIASAMGPQVLPG	QDLDEYQLHNCVKIASAMGPQVLPG	1.0	5.0	unscreened	-	1913_7:107710246-107710246 C>T_QDLDEYQLHNCVKIASAMGPQVLPG
15:87099497-87099497 A>G	0.0	1913	MELANOMA	-	-	-	-	AGBL1	NM_152336,p.H967R|ENST00000421325,p.H967R|uc002blz.1,p.H967R|ENST00000389298,p.H698R|ENST00000441037,p.H967R	retained_intron, protein_coding	uc002blz.1	nonsynonymous SNV	exon21	c.A2900G	p.H967R	QRLLERTKNERAHPVDGLQGLQFGT	QRLLERTKNERARPVDGLQGLQFGT	1.0	1.0	unscreened	-	1913_15:87099497-87099497 A>G_QRLLERTKNERARPVDGLQGLQFGT
10:125516860-125516860 C>T	0.0	1913	MELANOMA	-	-	-	-	CPXM2	NM_198148,p.D596N|ENST00000241305,p.D596N|uc001lhk.1,p.D596N	protein_coding, processed_transcript	uc001lhk.1	nonsynonymous SNV	exon12	c.G1786A	p.D596N	GASWHTVAGSLNDFSYLHTNCFELS	GASWHTVAGSLNNFSYLHTNCFELS	1.0	6.0	unscreened	-	1913_10:125516860-125516860 C>T_GASWHTVAGSLNNFSYLHTNCFELS
12:52882287-52882287 C>T	0.0	1913	MELANOMA	-	-	-	-	KRT6A	uc001sam.3,p.E417K|NM_005554,p.E417K|ENST00000330722,p.E417K	retained_intron, protein_coding	uc001sam.3	nonsynonymous SNV	exon7	c.G1249A	p.E417K	LQAAIADAEQRGEMALKDAKNKLEG	LQAAIADAEQRGKMALKDAKNKLEG	1.0	1.0	unscreened	-	1913_12:52882287-52882287 C>T_LQAAIADAEQRGKMALKDAKNKLEG
7:57529119-57529119 C>T	0.0	1913	MELANOMA	-	-	ID=COSM165920;OCCURENCE=1(breast)	-	ZNF716	ENST00000420713,p.H318Y|NM_001159279,p.H318Y|uc011kdi.1,p.H318Y	protein_coding	uc011kdi.1	nonsynonymous SNV	exon4	c.C952T	p.H318Y	SRSSTLTNHKRIHTGERPYKCEECG	SRSSTLTNHKRIYTGERPYKCEECG	1.0	5.0	unscreened	-	1913_7:57529119-57529119 C>T_SRSSTLTNHKRIYTGERPYKCEECG
7:137256007-137256007 C>T	0.0	1913	MELANOMA	-	-	-	-	DGKI	ENST00000288490,p.G621R|ENST00000424189,p.G621R|uc003vtt.3,p.G621R|uc003vtu.3,p.G321R|NM_004717,p.G621R|ENST00000446122,p.G621R|ENST00000453654,p.G321R	retained_intron, protein_coding, processed_transcript	uc003vtu.3	nonsynonymous SNV	exon19	c.G961A	p.G321R	NIPRYCAGTMPWGNPGDHHDFEPQR	NIPRYCAGTMPWRNPGDHHDFEPQR	5.0	4.0	unscreened	-	1913_7:137256007-137256007 C>T_NIPRYCAGTMPWRNPGDHHDFEPQR
19:43528917-43528917 G>A	0.0	1913	MELANOMA	-	-	-	-	PSG11	ENST00000598133,p.S119F|NM_002785,p.S119F|ENST00000401740,p.S119F|ENST00000593983,p.S83F|ENST00000320078,p.S119F|uc002ovm.1,p.S119F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ovm.1	nonsynonymous SNV	exon2	c.C356T	p.S119F	LLIQNVTREDAGSYTLHIIKRGDGT	LLIQNVTREDAGFYTLHIIKRGDGT	1.0	6.0	unscreened	-	1913_19:43528917-43528917 G>A_LLIQNVTREDAGFYTLHIIKRGDGT
3:193028460-193028460 T>A	0.0	1913	MELANOMA	-	-	-	-	ATP13A5	uc011bsq.2,p.K831I|ENST00000342358,p.K831I|NM_198505,p.K831I	retained_intron, protein_coding, processed_transcript	uc011bsq.2	nonsynonymous SNV	exon21	c.A2492T	p.K831I	NGTVFARMSPGQKSSLIEEFQKLNY	NGTVFARMSPGQISSLIEEFQKLNY	1.0	7.0	unscreened	-	1913_3:193028460-193028460 T>A_NGTVFARMSPGQISSLIEEFQKLNY
8:24207414-24207414 G>T	0.0	1913	MELANOMA	-	-	-	-	ADAM28	ENST00000397649,p.G425C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000397649	nonsynonymous SNV	exon19	c.G1273T	p.G425C	LLHCGWGAVPNGGHFCGGCYGNPAP	LLHCGWGAVPNGCHFCGGCYGNPAP	1.0	1.0	unscreened	-	1913_8:24207414-24207414 G>T_LLHCGWGAVPNGCHFCGGCYGNPAP
2:230910467-230910467 A>T	0.0	1913	MELANOMA	-	-	-	-	SLC16A14	ENST00000412034,p.F459I|uc002vqf.3,p.F459I|ENST00000457406,p.F459I|uc002vqe.3,p.F459I	protein_coding	uc002vqf.3	nonsynonymous SNV	exon4	c.T1375A	p.F459I	CANGISALLGPPFAGKLSEVLRAQS	CANGISALLGPPIAGKLSEVLRAQS	1.0	5.0	unscreened	-	1913_2:230910467-230910467 A>T_CANGISALLGPPIAGKLSEVLRAQS
5:121786523-121786523 G>A	1.0	1913	MELANOMA	-	-	ID=COSM225216,COSM225215;OCCURENCE=1(NS)	-	SNCAIP	uc003ksw.1,p.E661K|NM_001242935,p.E295K|uc011cwm.1,p.E295K|ENST00000379536,p.E601K|uc003ksx.1,p.E708K|uc003kta.1,p.E293K|uc003ksy.1,p.E295K|uc010jcx.1,p.E601K|ENST00000509154,p.E601K|NM_005460,p.E661K|uc003ktc.1,p.E177K|ENST00000379533,p.E708K|ENST00000261368,p.E661K|uc010jcw.1,p.E355K|ENST00000379538,p.E295K|ENST00000542191,p.E219K|ENST00000261367,p.E708K|uc011cwl.1,p.E219K|uc003ksz.1,p.E295K|ENST00000414317,p.E263K|uc010jcu.2,p.E257K	retained_intron, protein_coding, nonsense_mediated_decay	uc011cwm.1	nonsynonymous SNV	exon8	c.G883A	p.E295K	SRNSKKIPLEKRELKLARLRQLMQR	SRNSKKIPLEKRKLKLARLRQLMQR	3.0	1.0	unscreened	-	1913_5:121786523-121786523 G>A_SRNSKKIPLEKRKLKLARLRQLMQR
19:43411800-43411800 C>T	0.0	1913	MELANOMA	-	-	-	-	PSG6	ENST00000187910,p.G305R|NM_001031850,p.G305R|ENST00000292125,p.G305R|uc010xwk.2,p.G145R|uc002ovg.2,p.G305R|uc002ovj.2,p.G305R|NM_002782,p.G305R	retained_intron, protein_coding, nonsense_mediated_decay	uc010xwk.2	nonsynonymous SNV	exon2	c.G433A	p.G145R	ILILPSVTRNETGPYQCEIRDRYGG	ILILPSVTRNETRPYQCEIRDRYGG	1.0	8.0	unscreened	-	1913_19:43411800-43411800 C>T_ILILPSVTRNETRPYQCEIRDRYGG
3:38770098-38770098 C>T	0.0	1913	MELANOMA	-	-	-	-	SCN10A	uc003ciq.3,p.E859K|ENST00000449082,p.E859K|NM_001293307,p.E761K|NM_006514,p.E859K|NM_001293306,p.E859K	protein_coding	uc003ciq.3	nonsynonymous SNV	exon15	c.G2575A	p.E859K	CGEWIENMWACMEVGQKSICLILFL	CGEWIENMWACMKVGQKSICLILFL	1.0	9.0	unscreened	-	1913_3:38770098-38770098 C>T_CGEWIENMWACMKVGQKSICLILFL
7:126249552-126249552 C>T	0.0	1913	MELANOMA	-	-	-	-	GRM8	uc003vlr.2,p.G453D|ENST00000339582,p.G453D|ENST00000472701,p.G453D|NM_001127323,p.G453D|NM_000845,p.G453D|uc003vlt.2,p.G453D|ENST00000444921,p.G453D|ENST00000358373,p.G453D	protein_coding, processed_transcript, nonsense_mediated_decay	uc003vlt.2	nonsynonymous SNV	exon8	c.G1358A	p.G453D	ELLGYIRAVNFNGSAGTPVTFNENG	ELLGYIRAVNFNDSAGTPVTFNENG	3.0	8.0	unscreened	-	1913_7:126249552-126249552 C>T_ELLGYIRAVNFNDSAGTPVTFNENG
3:46399143-46399143 C>T	0.0	1913	MELANOMA	-	-	-	-	CCR2	ENST00000292301,p.A42V|NM_001123041,p.A42V|uc003cpn.4,p.A42V|ENST00000400888,p.A42V|ENST00000445132,p.A42V|ENST00000421659,p.A42V|uc021wxa.1,p.A42V|uc003cpm.4,p.A42V|NM_001123396,p.A42V	protein_coding, processed_transcript	uc021wxa.1	nonsynonymous SNV	exon1	c.C125T	p.A42V	APCHKFDVKQIGAQLLPPLYSLVFI	APCHKFDVKQIGVQLLPPLYSLVFI	3.0	8.0	unscreened	-	1913_3:46399143-46399143 C>T_APCHKFDVKQIGVQLLPPLYSLVFI
2:103068438-103068438 G>A	0.0	1913	MELANOMA	-	-	-	-	IL18RAP	ENST00000409369,p.V391I|uc002tbx.3,p.V533I|NM_003853,p.V533I|ENST00000264260,p.V533I|uc010fiz.3,p.V391I	retained_intron, protein_coding	uc010fiz.3	nonsynonymous SNV	exon10	c.G1171A	p.V391I	ESLPHLVKKALRVLPTVTWRGLKSV	ESLPHLVKKALRILPTVTWRGLKSV	4.0	5.0	unscreened	-	1913_2:103068438-103068438 G>A_ESLPHLVKKALRILPTVTWRGLKSV
1:175049523-175049523 G>A	0.0	1913	MELANOMA	-	-	-	-	TNN	uc001gkl.1,p.E337K|NM_022093,p.E337K|uc010pmx.1,p.E337K|ENST00000239462,p.E337K	protein_coding	uc010pmx.1	nonsynonymous SNV	exon3	c.G1009A	p.E337K	TKYIVTLRNVKNEVSSSPQHLLATT	TKYIVTLRNVKNKVSSSPQHLLATT	1.0	8.0	unscreened	-	1913_1:175049523-175049523 G>A_TKYIVTLRNVKNKVSSSPQHLLATT
12:130907051-130907051 G>A	0.0	1913	MELANOMA	-	-	-	-	RIMBP2	NM_015347,p.P806L|uc001uil.2,p.P806L|ENST00000261655,p.P806L	retained_intron, protein_coding, nonsense_mediated_decay	uc001uil.2	nonsynonymous SNV	exon13	c.C2417T	p.P806L	SAGRVDHMGRRFPRGSAGPQRSRPV	SAGRVDHMGRRFLRGSAGPQRSRPV	1.0	1.0	unscreened	-	1913_12:130907051-130907051 G>A_SAGRVDHMGRRFLRGSAGPQRSRPV
4:85416967-85416967 C>T	1.0	1913	MELANOMA	-	-	-	-	NKX6-1	NM_006168,p.G234E|uc003hpa.1,p.G234E|ENST00000295886,p.G234E	protein_coding	uc003hpa.1	nonsynonymous SNV	exon2	c.G701A	p.G234E	TPHQGSILLDKDGKRKHTRPTFSGQ	TPHQGSILLDKDEKRKHTRPTFSGQ	6.0	9.0	unscreened	-	1913_4:85416967-85416967 C>T_TPHQGSILLDKDEKRKHTRPTFSGQ
2:179427302-179427302 C>T	0.0	1913	MELANOMA	-	-	-	-	TTN	uc021vsz.2,p.E18980K|uc031rqc.1,p.E27853K|NM_133378,p.E25285K|ENST00000589042,p.E27853K|ENST00000342175,p.E18980K|NM_133432,p.E18913K|NM_001256850,p.E26212K|ENST00000359218,p.E18913K|uc021vtb.2,p.E18788K|ENST00000591111,p.E26212K|ENST00000342992,p.E25285K|NM_003319,p.E18788K|uc031rqd.1,p.E26212K|NM_133437,p.E18980K|uc021vta.2,p.E18913K|ENST00000460472,p.E18788K|uc021vsy.2,p.E25285K|NM_001267550,p.E27853K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon276	c.G78634A	p.E26212K	LASNEYGIGLPAETTEPVKVSEPPL	LASNEYGIGLPAKTTEPVKVSEPPL	2.0	6.0	unscreened	-	1913_2:179427302-179427302 C>T_LASNEYGIGLPAKTTEPVKVSEPPL
11:57958119-57958119 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1354878;OCCURENCE=1(large_intestine)	-	OR9Q2	ENST00000311591,p.R53C|NM_001005283,p.R53C|uc010rka.2,p.R53C	protein_coding	uc010rka.2	nonsynonymous SNV	exon1	c.C157T	p.R53C	GNTGMILLIRGDRRLHTPMYFFLSH	GNTGMILLIRGDCRLHTPMYFFLSH	1.0	8.0	unscreened	-	1913_11:57958119-57958119 C>T_GNTGMILLIRGDCRLHTPMYFFLSH
X:125299442-125299442 C>T	0.0	1913	MELANOMA	-	-	ID=COSM25471,COSM3405932;OCCURENCE=1(central_nervous_system),1(large_intestine)	2	DCAF12L2	uc004euk.2,p.E156K|ENST00000538699,p.E156K|ENST00000360028,p.E156K|NM_001013628,p.E156K	protein_coding	uc004euk.2	nonsynonymous SNV	exon1	c.G466A	p.E156K	AQAHQGCGIHAIELNPSKTLLATGG	AQAHQGCGIHAIKLNPSKTLLATGG	1.0	9.0	unscreened	-	1913_X:125299442-125299442 C>T_AQAHQGCGIHAIKLNPSKTLLATGG
13:25338376-25338376 G>A	0.0	1913	MELANOMA	-	-	-	-	RNF17	NM_001184993,p.R12K|ENST00000255325,p.R12K|ENST00000381921,p.R12K|NM_031277,p.R12K|uc010tde.2,p.R12K|ENST00000255324,p.R12K|uc001upr.3,p.R12K|uc001upq.1,p.R12K	protein_coding, processed_transcript	uc010tde.2	nonsynonymous SNV	exon1	c.G35A	p.R12K	MAAEASKTGPSRSSYQRMGRKSQP	MAAEASKTGPSKSSYQRMGRKSQP	1.0	9.0	unscreened	-	1913_13:25338376-25338376 G>A_MAAEASKTGPSKSSYQRMGRKSQP
2:133542796-133542796 G>A	0.0	1913	MELANOMA	-	-	-	-	NCKAP5	NM_207363,p.P530S|ENST00000317721,p.P530S|uc002ttp.3,p.P530S|ENST00000409261,p.P530S	protein_coding, processed_transcript	uc002ttp.3	nonsynonymous SNV	exon14	c.C1588T	p.P530S	RKHFLEGTSSVYPKERPEKLTSCAS	RKHFLEGTSSVYSKERPEKLTSCAS	1.0	5.0	unscreened	-	1913_2:133542796-133542796 G>A_RKHFLEGTSSVYSKERPEKLTSCAS
5:26903816-26903816 C>T	0.0	1913	MELANOMA	0.0005	-	-	-	CDH9	ENST00000231021,p.G310E|NM_016279,p.G310E|uc003jgs.1,p.G310E|uc010iug.3,p.G310E	retained_intron, protein_coding	uc010iug.3	nonsynonymous SNV	exon6	c.G929A	p.G310E	GENAEMEYSIAEGDGADMFDVITDK	GENAEMEYSIAEEDGADMFDVITDK	1.0	1.0	unscreened	-	1913_5:26903816-26903816 C>T_GENAEMEYSIAEEDGADMFDVITDK
X:105277499-105277499 C>T	0.0	1913	MELANOMA	-	-	-	-	SERPINA7	uc004eme.2,p.E414K|NM_000354,p.E414K|uc010npd.3,p.E414K|ENST00000327674,p.E414K|ENST00000372563,p.E414K	protein_coding, processed_transcript	uc010npd.3	nonsynonymous SNV	exon4	c.G1240A	p.E414K	SILFLGKVVNPTEA	SILFLGKVVNPTKA	1.0	9.0	unscreened	-	1913_X:105277499-105277499 C>T_SILFLGKVVNPTKA
12:7556157-7556157 C>G	0.0	1913	MELANOMA	-	-	-	-	CD163L1	uc001qsy.3,p.R461T|NM_174941,p.R461T|uc010sge.2,p.R471T|ENST00000313599,p.R461T|ENST00000416109,p.R471T|ENST00000396630,p.R461T|NM_001297650,p.R471T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sge.2	nonsynonymous SNV	exon6	c.G1412C	p.R471T	TYDGKAKRTCFRRSDAGVICSDKAD	TYDGKAKRTCFRTSDAGVICSDKAD	1.0	1.0	unscreened	-	1913_12:7556157-7556157 C>G_TYDGKAKRTCFRTSDAGVICSDKAD
2:179456401-179456401 G>A	0.0	1913	MELANOMA	-	-	-	-	TTN	ENST00000342992,p.R17481C|NM_133437,p.R11176C|NM_003319,p.R10984C|NM_001267550,p.R20049C|ENST00000591111,p.R18408C|ENST00000359218,p.R11109C|ENST00000342175,p.R11176C|ENST00000589042,p.R20049C|uc021vsy.2,p.R17481C|uc021vtb.2,p.R10984C|uc021vsz.2,p.R11176C|uc031rqc.1,p.R20049C|NM_001256850,p.R18408C|NM_133432,p.R11109C|NM_133378,p.R17481C|uc021vta.2,p.R11109C|ENST00000460472,p.R10984C|uc031rqd.1,p.R18408C	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon253	c.C55222T	p.R18408C	VTGLQQGKTYRFRVKAENIVGLGLP	VTGLQQGKTYRFCVKAENIVGLGLP	2.0	3.0	unscreened	-	1913_2:179456401-179456401 G>A_VTGLQQGKTYRFCVKAENIVGLGLP
16:77398264-77398264 G>A	0.0	1913	MELANOMA	-	-	-	-	ADAMTS18	uc002ffc.4,p.P265S|NM_199355,p.P265S|ENST00000282849,p.P265S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ffc.4	nonsynonymous SNV	exon5	c.C793T	p.P265S	FCGRRKKYAPKPPTEDTYLRFDEYG	FCGRRKKYAPKPSTEDTYLRFDEYG	1.0	9.0	unscreened	-	1913_16:77398264-77398264 G>A_FCGRRKKYAPKPSTEDTYLRFDEYG
1:211192183-211192183 G>A	0.0	1913	MELANOMA	-	-	-	-	KCNH1	ENST00000271751,p.P325L|NM_172362,p.P325L|uc001hib.2,p.P325L	protein_coding	uc001hib.2	nonsynonymous SNV	exon6	c.C974T	p.P325L	ENVDEVSAFMGDPGKIGFADQIPPP	ENVDEVSAFMGDLGKIGFADQIPPP	4.0	6.0	unscreened	-	1913_1:211192183-211192183 G>A_ENVDEVSAFMGDLGKIGFADQIPPP
10:55782888-55782888 G>A	0.0	1913	MELANOMA	0.0009	-	-	-	PCDH15	uc010qib.1,p.R742C|ENST00000361849,p.R764C|uc010qhz.1,p.R764C|uc010qhy.1,p.R769C|ENST00000437009,p.R693C|ENST00000409834,p.R375C|ENST00000373955,p.R764C|ENST00000414778,p.R769C|uc010qia.1,p.R742C|ENST00000395430,p.R764C|NM_001142766,p.R764C|NM_001142763,p.R769C|uc021pqx.1,p.R764C|ENST00000395432,p.R727C|ENST00000395433,p.R742C|ENST00000395438,p.R764C|ENST00000320301,p.R764C|uc010qht.2,p.R771C|uc021pqv.1,p.R764C|NM_001142768,p.R742C|uc010qhq.2,p.R769C|uc021pqz.1,p.R742C|uc010qhx.1,p.R693C|uc021pqw.1,p.R776C|uc021pqy.1,p.R764C|uc010qhw.1,p.R727C|uc010qhv.1,p.R764C|NM_001142765,p.R693C|ENST00000373965,p.R771C|uc001jju.1,p.R764C|NM_033056,p.R764C|ENST00000395445,p.R771C|NM_001142764,p.R764C|NM_001142773,p.R742C|uc001jjw.3,p.R764C|NM_001142767,p.R727C|uc010qhr.2,p.R764C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqz.1	nonsynonymous SNV	exon17	c.C2224T	p.R742C	VHYSLGNFNNLFRITSNGSIYTAVK	VHYSLGNFNNLFCITSNGSIYTAVK	1.0	7.0	unscreened	-	1913_10:55782888-55782888 G>A_VHYSLGNFNNLFCITSNGSIYTAVK
18:28662258-28662258 A>T	0.0	1913	MELANOMA	-	-	-	-	DSC2	ENST00000280904,p.N403K|uc002kwk.4,p.N403K|NM_024422,p.N403K|NM_004949,p.N403K|ENST00000251081,p.N403K|uc002kwl.4,p.N403K	protein_coding	uc002kwl.4	nonsynonymous SNV	exon9	c.T1209A	p.N403K	ANYTILKGNENGNFKIVTDAKTNEG	ANYTILKGNENGKFKIVTDAKTNEG	1.0	9.0	unscreened	-	1913_18:28662258-28662258 A>T_ANYTILKGNENGKFKIVTDAKTNEG
1:32742061-32742061 G>A	0.0	1913	MELANOMA	-	-	-	1	LCK	uc001buy.3,p.G252E|ENST00000336890,p.G252E|uc001buz.3,p.G252E|ENST00000333070,p.G252E|NM_005356,p.G252E|NM_001042771,p.G252E|uc010ohc.1,p.G296E|uc001bux.3,p.G252E	retained_intron, protein_coding	uc010ohc.1	nonsynonymous SNV	exon7	c.G887A	p.G296E	VPRETLKLVERLGAGQFGEVWMGYY	VPRETLKLVERLEAGQFGEVWMGYY	3.0	2.0	unscreened	-	1913_1:32742061-32742061 G>A_VPRETLKLVERLEAGQFGEVWMGYY
4:1805492-1805492 G>A	0.0	1913	MELANOMA	-	-	-	1	FGFR3	NM_000142,p.G335E|uc010icb.1,p.G143E|ENST00000440486,p.G335E|ENST00000260795,p.G335E|uc003gdq.3,p.G335E|uc003gdt.1,p.G164E|uc003gdr.3,p.G335E|ENST00000481110,p.G335E	retained_intron, protein_coding, processed_transcript	uc010icb.1	nonsynonymous SNV	exon4	c.G428A	p.G143E	VLSLHNVTFEDAGEYTCLAGNSIGF	VLSLHNVTFEDAEEYTCLAGNSIGF	2.0	9.0	unscreened	-	1913_4:1805492-1805492 G>A_VLSLHNVTFEDAEEYTCLAGNSIGF
14:96707191-96707191 C>T	0.0	1913	MELANOMA	-	-	-	-	BDKRB2	uc001yfg.2,p.L176F|uc010twu.1,p.L149F|uc010avm.1,p.L176F|ENST00000554311,p.L176F|ENST00000542454,p.L149F|ENST00000539359,p.L149F|NM_000623,p.L176F|ENST00000306005,p.L176F	protein_coding	uc010twu.1	nonsynonymous SNV	exon4	c.C445T	p.L149F	SMGRMRGVRWAKLYSLVIWGCTLLL	SMGRMRGVRWAKFYSLVIWGCTLLL	1.0	8.0	unscreened	-	1913_14:96707191-96707191 C>T_SMGRMRGVRWAKFYSLVIWGCTLLL
19:43375976-43375976 C>T	0.0	1913	MELANOMA	-	-	-	-	PSG1	ENST00000312439,p.E218K|NM_001297773,p.E218K|ENST00000244296,p.E218K|uc002ovd.1,p.E218K|uc002oug.1,p.E218K|NM_001184825,p.E218K|uc002ovb.3,p.E218K|ENST00000436291,p.E218K|NM_006905,p.E218K|uc002ouz.2,p.E218K|ENST00000595356,p.E218K|NM_001184826,p.E218K	retained_intron, protein_coding, processed_transcript	uc002ovd.1	nonsynonymous SNV	exon3	c.G652A	p.E218K	GVTKYTAGPYECEIRNPVSASRSDP	GVTKYTAGPYECKIRNPVSASRSDP	1.0	4.0	unscreened	-	1913_19:43375976-43375976 C>T_GVTKYTAGPYECKIRNPVSASRSDP
12:106740168-106740168 G>A	0.0	1913	MELANOMA	-	-	-	-	TCP11L2	NM_152772,p.E474K|ENST00000299045,p.E474K|uc001tln.3,p.E474K	protein_coding, processed_transcript, nonsense_mediated_decay	uc001tln.3	nonsynonymous SNV	exon10	c.G1420A	p.E474K	MPGGLAVIQQELEALGSQYANIVNL	MPGGLAVIQQELKALGSQYANIVNL	4.0	7.0	unscreened	-	1913_12:106740168-106740168 G>A_MPGGLAVIQQELKALGSQYANIVNL
9:14775871-14775871 A>C	0.0	1913	MELANOMA	-	-	-	-	FREM1	ENST00000380880,p.F1591L|uc003zlm.3,p.F1591L|uc003zll.3,p.F127L|ENST00000380881,p.F1592L|ENST00000422223,p.F1591L|NM_001177704,p.F127L|NM_144966,p.F1591L|ENST00000380894,p.F127L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zlm.3	nonsynonymous SNV	exon26	c.T4773G	p.F1591L	YRHSGGDSQTDCFTFMATDGTNQGF	YRHSGGDSQTDCLTFMATDGTNQGF	1.0	9.0	unscreened	-	1913_9:14775871-14775871 A>C_YRHSGGDSQTDCLTFMATDGTNQGF
5:153175112-153175112 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1435387;OCCURENCE=1(large_intestine)	-	GRIA1	NM_001258020,p.D688N|uc011dcy.2,p.D793N|NM_001258022,p.D793N|uc003luz.4,p.D688N|NM_001114183,p.D783N|ENST00000340592,p.D783N|ENST00000448073,p.D793N|uc003lva.4,p.D783N	retained_intron, protein_coding, processed_transcript	uc011dcy.2	nonsynonymous SNV	exon14	c.G2377A	p.D793N	GVLDKLKSKWWYDKGECGSKDSGSK	GVLDKLKSKWWYNKGECGSKDSGSK	1.0	1.0	unscreened	-	1913_5:153175112-153175112 G>A_GVLDKLKSKWWYNKGECGSKDSGSK
12:109577853-109577853 C>T	0.0	1913	MELANOMA	-	-	-	-	ACACB	ENST00000377848,p.P215S|NM_001093,p.P215S|ENST00000377854,p.P215S|uc001tob.3,p.P215S|uc001toc.3,p.P215S|ENST00000338432,p.P215S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001toc.3	nonsynonymous SNV	exon1	c.C643T	p.P215S	AYLTTGEAETRVPTMRPSMSGLHLV	AYLTTGEAETRVSTMRPSMSGLHLV	5.0	1.0	unscreened	-	1913_12:109577853-109577853 C>T_AYLTTGEAETRVSTMRPSMSGLHLV
10:62631330-62631330 T>A	1.0	1913	MELANOMA	-	-	-	-	RHOBTB1	uc001jlh.3,p.K667N|ENST00000357917,p.K667N|ENST00000337910,p.K667N|uc009xpe.2,p.K605N|NM_014836,p.K667N|uc001jlj.3,p.K667N|NM_001242359,p.K667N|uc001jlk.3,p.K667N|uc001jli.3,p.K667N	protein_coding, processed_transcript	uc009xpe.2	nonsynonymous SNV	exon9	c.A1815T	p.K605N	WYLKEEDHYQRVKREREKEDIALNK	WYLKEEDHYQRVNREREKEDIALNK	5.0	8.0	unscreened	-	1913_10:62631330-62631330 T>A_WYLKEEDHYQRVNREREKEDIALNK
17:9683286-9683286 C>T	0.0	1913	MELANOMA	-	-	-	-	DHRS7C	ENST00000571134,p.E112K|ENST00000330255,p.E113K|NM_001105571,p.E112K|uc010cof.3,p.E112K|uc010vvb.2,p.E113K|NM_001220493,p.E113K	protein_coding	uc010vvb.2	nonsynonymous SNV	exon3	c.G337A	p.E113K	LSDISCVPDVAKEVLDCYGCVDILI	LSDISCVPDVAKKVLDCYGCVDILI	1.0	9.0	unscreened	-	1913_17:9683286-9683286 C>T_LSDISCVPDVAKKVLDCYGCVDILI
2:167129099-167129099 T>G	0.0	1913	MELANOMA	-	-	-	-	SCN9A	uc010fpl.3,p.K1043T|ENST00000303354,p.K1055T|ENST00000409435,p.K1054T|NM_002977,p.K1043T|ENST00000375387,p.K1055T|ENST00000409672,p.K1043T	retained_intron, protein_coding	uc010fpl.3	nonsynonymous SNV	exon17	c.A3128C	p.K1043T	TLAEMSKGHNFLKEKDKISGFGSSV	TLAEMSKGHNFLTEKDKISGFGSSV	1.0	3.0	unscreened	-	1913_2:167129099-167129099 T>G_TLAEMSKGHNFLTEKDKISGFGSSV
2:215914432-215914432 C>T	0.0	1913	MELANOMA	-	-	-	-	ABCA12	NM_173076,p.R204K|uc002vew.3,p.R204K|ENST00000272895,p.R204K	protein_coding	uc002vew.3	nonsynonymous SNV	exon6	c.G611A	p.R204K	IVDDAFSWTFLGRNVFNKFCLSNMT	IVDDAFSWTFLGKNVFNKFCLSNMT	1.0	5.0	unscreened	-	1913_2:215914432-215914432 C>T_IVDDAFSWTFLGKNVFNKFCLSNMT
7:6006588-6006588 C>T	0.0	1913	MELANOMA	-	-	-	-	RSPH10B,RSPH10B2	uc010ktd.1,p.E54K|ENST00000441023,p.E54K|ENST00000404406,p.E54K|NM_173565,p.E54K|NM_001099697,p.E54K|ENST00000405415,p.E54K|ENST00000337579,p.E54K|uc003sph.1,p.E54K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ktd.1	nonsynonymous SNV	exon2	c.G160A	p.E54K	PAGVPLLGMQLNEVKPKKDRQNVQQ	PAGVPLLGMQLNKVKPKKDRQNVQQ	5.0	3.0	unscreened	-	1913_7:6006588-6006588 C>T_PAGVPLLGMQLNKVKPKKDRQNVQQ
1:169578921-169578921 G>A	0.0	1913	MELANOMA	0.0018	-	-	-	SELP	ENST00000458599,p.S323L|ENST00000367786,p.S323L|ENST00000367794,p.S323L|ENST00000367792,p.S323L	protein_coding, processed_transcript	ENST00000458599	nonsynonymous SNV	exon7	c.C968T	p.S323L	VWTAPAPVCKAISCEPLESPVHGSM	VWTAPAPVCKAILCEPLESPVHGSM	1.0	7.0	unscreened	-	1913_1:169578921-169578921 G>A_VWTAPAPVCKAILCEPLESPVHGSM
2:213886851-213886851 C>A	0.0	1913	MELANOMA	-	-	-	-	IKZF2	NM_001079526,p.G167V|ENST00000342002,p.G199V|ENST00000434687,p.G193V|ENST00000457361,p.G193V|ENST00000431520,p.G193V|uc002vel.3,p.G114V|uc002vem.3,p.G193V|uc002ven.3,p.G167V|uc010fuv.3,p.G167V|ENST00000413091,p.G193V|NM_016260,p.G193V|ENST00000374319,p.G167V|uc002vej.3,p.G140V|ENST00000421754,p.G167V	retained_intron, protein_coding, nonsense_mediated_decay	uc010fuv.3	nonsynonymous SNV	exon5	c.G500T	p.G167V	DALTGHLRTHSVGKPHKCNYCGRSY	DALTGHLRTHSVVKPHKCNYCGRSY	3.0	6.0	unscreened	-	1913_2:213886851-213886851 C>A_DALTGHLRTHSVVKPHKCNYCGRSY
1:247712513-247712513 G>A	0.0	1913	MELANOMA	-	-	ID=COSM907040,COSM907041;OCCURENCE=1(endometrium),1(liver)	-	GCSAML	NM_145278,p.R7Q|ENST00000366488,p.R7Q|NM_001281853,p.R7Q|uc001idf.3,p.R7Q|ENST00000526896,p.R7Q	protein_coding, processed_transcript	uc001idf.3	nonsynonymous SNV	exon1	c.G20A	p.R7Q	MGNYLLRKLSCLGENQKKP	MGNYLLQKLSCLGENQKKP	1.0	8.0	unscreened	-	1913_1:247712513-247712513 G>A_MGNYLLQKLSCLGENQKKP
15:24923620-24923620 C>T	0.0	1913	MELANOMA	-	-	-	-	NPAP1	NM_018958,p.A869V|ENST00000329468,p.A869V|uc001ywo.3,p.A869V	protein_coding	uc001ywo.3	nonsynonymous SNV	exon1	c.C2606T	p.A869V	SGNTLHSDSIASAQVSTSFPAQADR	SGNTLHSDSIASVQVSTSFPAQADR	1.0	8.0	unscreened	-	1913_15:24923620-24923620 C>T_SGNTLHSDSIASVQVSTSFPAQADR
1:151787479-151787479 G>A	0.0	1913	MELANOMA	-	-	-	-	RORC	NM_005060,p.L241F|uc001ezg.3,p.L220F|NM_001001523,p.L220F|uc010pdo.2,p.L295F|ENST00000318247,p.L241F|uc001ezh.3,p.L241F|uc010pdp.2,p.L241F|ENST00000356728,p.L220F|ENST00000392697,p.L295F	protein_coding, processed_transcript	uc010pdp.2	nonsynonymous SNV	exon5	c.C721T	p.L241F	CGLRFEEHRHPGLGELGQGPDSYGS	CGLRFEEHRHPGFGELGQGPDSYGS	1.0	1.0	unscreened	-	1913_1:151787479-151787479 G>A_CGLRFEEHRHPGFGELGQGPDSYGS
10:17171206-17171206 C>T	0.0	1913	MELANOMA	-	-	-	-	CUBN	ENST00000377833,p.G56R|NM_001081,p.G56R|ENST00000377823,p.G56R|uc001ioo.3,p.G56R	protein_coding	uc001ioo.3	nonsynonymous SNV	exon2	c.G166A	p.G56R	MATERGNLVFLTGSAQNIEFRTGSL	MATERGNLVFLTRSAQNIEFRTGSL	4.0	5.0	unscreened	-	1913_10:17171206-17171206 C>T_MATERGNLVFLTRSAQNIEFRTGSL
3:33195199-33195199 C>T	0.0	1913	MELANOMA	-	-	-	-	SUSD5	uc003cfo.1,p.E309K|NM_015551,p.E309K|ENST00000309558,p.E309K	protein_coding	uc003cfo.1	nonsynonymous SNV	exon5	c.G925A	p.E309K	PAEAFHKPGLEKEVDDDTKKQFSAG	PAEAFHKPGLEKKVDDDTKKQFSAG	5.0	1.0	unscreened	-	1913_3:33195199-33195199 C>T_PAEAFHKPGLEKKVDDDTKKQFSAG
9:8389402-8389402 G>A	0.0	1913	MELANOMA	-	-	-	-	PTPRD	ENST00000397606,p.P999S|ENST00000358503,p.P1384S|uc003zks.3,p.P999S|NM_001040712,p.P996S|ENST00000381196,p.P1406S|NM_001171025,p.P999S|NM_130392,p.P1000S|ENST00000537002,p.P996S|ENST00000486161,p.P999S|NM_130391,p.P999S|uc003zkk.3,p.P1406S|uc003zkp.3,p.P1000S|ENST00000355233,p.P1000S|ENST00000397611,p.P996S|ENST00000397617,p.P999S|uc003zkr.3,p.P990S|ENST00000356435,p.P1406S|NM_130393,p.P990S|NM_002839,p.P1406S|uc003zkq.3,p.P999S|ENST00000540109,p.P1406S|ENST00000360074,p.P1393S|uc022bdj.1,p.P996S	retained_intron, protein_coding, processed_transcript	uc022bdj.1	nonsynonymous SNV	exon21	c.C2986T	p.P996S	HSRVLLSAIEGIPGSDYVNANYIDG	HSRVLLSAIEGISGSDYVNANYIDG	1.0	9.0	unscreened	-	1913_9:8389402-8389402 G>A_HSRVLLSAIEGISGSDYVNANYIDG
2:141294269-141294269 G>A	0.0	1913	MELANOMA	-	-	-	1	LRP1B	ENST00000389484,p.S2508F|uc002tvj.1,p.S2508F|NM_018557,p.S2508F	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon46	c.C7523T	p.S2508F	ILLEDNRCVTKNSSCNAYSEFECGN	ILLEDNRCVTKNFSCNAYSEFECGN	3.0	7.0	unscreened	-	1913_2:141294269-141294269 G>A_ILLEDNRCVTKNFSCNAYSEFECGN
7:141420751-141420751 G>A	0.0	1913	MELANOMA	-	-	-	-	WEE2	NM_001105558,p.E259K|ENST00000397541,p.E259K|ENST00000493845,p.E34K|uc003vwn.2,p.E259K	protein_coding	uc003vwn.2	nonsynonymous SNV	exon5	c.G775A	p.E259K	FTELSNENSALHEVYAHAVLGHHPH	FTELSNENSALHKVYAHAVLGHHPH	2.0	3.0	unscreened	-	1913_7:141420751-141420751 G>A_FTELSNENSALHKVYAHAVLGHHPH
19:9325456-9325456 C>T	0.0	1913	MELANOMA	-	-	-	-	OR7D4	NM_001005191,p.D20N|ENST00000308682,p.D20N|uc002mla.2,p.D20N	protein_coding	uc002mla.2	nonsynonymous SNV	exon1	c.G58A	p.D20N	ELSKFLLLGLSDDPELQPVLFGLFL	ELSKFLLLGLSDNPELQPVLFGLFL	1.0	3.0	unscreened	-	1913_19:9325456-9325456 C>T_ELSKFLLLGLSDNPELQPVLFGLFL
5:137219116-137219116 G>A	1.0	1913	MELANOMA	-	-	-	-	MYOT	NM_001135940,p.G103E|uc011cyh.2,p.G172E|ENST00000239926,p.G287E|ENST00000421631,p.G103E|ENST00000515645,p.G172E|NM_006790,p.G287E|NM_001300911,p.G172E|uc003lbv.3,p.G287E|uc011cye.2,p.G287E|uc011cyg.2,p.G103E	retained_intron, protein_coding, processed_transcript	uc011cyh.2	nonsynonymous SNV	exon8	c.G515A	p.G172E	GLPAPDVSWYLNGRTVQSDDLHKMI	GLPAPDVSWYLNERTVQSDDLHKMI	1.0	7.0	unscreened	-	1913_5:137219116-137219116 G>A_GLPAPDVSWYLNERTVQSDDLHKMI
6:155596867-155596867 G>A	0.0	1913	MELANOMA	-	-	-	-	CLDN20	uc003qql.2,p.G5E|NM_001001346,p.G5E|uc021zhh.1,p.G5E|ENST00000367165,p.G5E	protein_coding	uc021zhh.1	nonsynonymous SNV	exon1	c.G14A	p.G5E	MASAGLQLLAFILALSG	MASAELQLLAFILALSG	2.0	8.0	unscreened	-	1913_6:155596867-155596867 G>A_MASAELQLLAFILALSG
12:124252219-124252219 C>T	0.0	1913	MELANOMA	-	-	-	-	DNAH10	uc001uft.4,p.S33F|ENST00000409039,p.S33F|NM_207437,p.S33F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uft.4	nonsynonymous SNV	exon2	c.C98T	p.S33F	EEEEETYSQKVESVDKVRAKRVSLR	EEEEETYSQKVEFVDKVRAKRVSLR	4.0	9.0	unscreened	-	1913_12:124252219-124252219 C>T_EEEEETYSQKVEFVDKVRAKRVSLR
14:63174617-63174617 C>T	0.0	1913	MELANOMA	-	-	-	-	KCNH5	uc001xfx.3,p.R859K|NM_139318,p.R859K|ENST00000322893,p.R859K	protein_coding	uc001xfx.3	nonsynonymous SNV	exon11	c.G2576A	p.R859K	SDSENSVTKNPLRKTDSCDSGITKS	SDSENSVTKNPLKKTDSCDSGITKS	1.0	3.0	unscreened	-	1913_14:63174617-63174617 C>T_SDSENSVTKNPLKKTDSCDSGITKS
3:150377804-150377804 C>T	0.0	1913	MELANOMA	-	-	-	-	ERICH6	uc003eyh.3,p.E477K|ENST00000295910,p.E623K|ENST00000491361,p.E477K|uc003eyg.3,p.E623K|NM_152394,p.E623K	retained_intron, protein_coding	uc003eyh.3	nonsynonymous SNV	exon14	c.G1429A	p.E477K	EGCVNFPSSQVWEKLKQPSYLSSLS	EGCVNFPSSQVWKKLKQPSYLSSLS	1.0	9.0	unscreened	-	1913_3:150377804-150377804 C>T_EGCVNFPSSQVWKKLKQPSYLSSLS
5:31294165-31294165 G>A	0.0	1913	MELANOMA	-	-	-	-	CDH6	NM_004932,p.D109N|uc003jhe.2,p.D109N|uc003jhd.2,p.D109N|ENST00000265071,p.D109N|ENST00000514738,p.D54N	retained_intron, protein_coding	uc003jhe.2	nonsynonymous SNV	exon3	c.G325A	p.D109N	AGDLFIINENTGDIQATKRLDREEK	AGDLFIINENTGNIQATKRLDREEK	2.0	2.0	unscreened	-	1913_5:31294165-31294165 G>A_AGDLFIINENTGNIQATKRLDREEK
17:5039935-5039935 G>A	0.0	1913	MELANOMA	-	-	-	1	USP6	ENST00000250066,p.G222E|NM_004505,p.G222E|uc002gau.1,p.G222E|ENST00000572949,p.G222E|ENST00000332776,p.G222E|ENST00000575709,p.G222E|uc002gav.1,p.G222E|ENST00000574788,p.G222E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gav.1	nonsynonymous SNV	exon10	c.G665A	p.G222E	VQLLASERHSLPGFHSPNGGTVQGL	VQLLASERHSLPEFHSPNGGTVQGL	2.0	9.0	unscreened	-	1913_17:5039935-5039935 G>A_VQLLASERHSLPEFHSPNGGTVQGL
3:56114910-56114910 C>T	0.0	1913	MELANOMA	-	-	-	-	ERC2	ENST00000460849,p.E526K|uc003dhr.1,p.E526K|uc021wzo.1,p.E526K|NM_015576,p.E526K|ENST00000288221,p.E526K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wzo.1	nonsynonymous SNV	exon6	c.G1576A	p.E526K	QDLTEEKGTLAGEIRDMKDMLEVKE	QDLTEEKGTLAGKIRDMKDMLEVKE	1.0	2.0	unscreened	-	1913_3:56114910-56114910 C>T_QDLTEEKGTLAGKIRDMKDMLEVKE
11:6190872-6190872 G>A	0.0	1913	MELANOMA	0.0032	-	-	-	OR52B2	NM_001004052,p.R229C|ENST00000530810,p.R229C|uc010qzy.2,p.R229C	protein_coding	uc010qzy.2	nonsynonymous SNV	exon1	c.C685T	p.R229C	AVSYSLILRAVFRLPSQDARHKALS	AVSYSLILRAVFCLPSQDARHKALS	1.0	8.0	unscreened	-	1913_11:6190872-6190872 G>A_AVSYSLILRAVFCLPSQDARHKALS
1:200969852-200969852 C>T	0.0	1913	MELANOMA	-	-	-	-	KIF21B	ENST00000461742,p.E487K|ENST00000422435,p.E487K|ENST00000332129,p.E487K|NM_001252100,p.E487K|ENST00000360529,p.E487K|uc001gvs.2,p.E487K|uc001gvr.2,p.E487K|NM_001252102,p.E487K|NM_001252103,p.E487K|uc010ppn.2,p.E487K|NM_017596,p.E487K|uc009wzl.2,p.E487K	retained_intron, protein_coding, nonsense_mediated_decay	uc010ppn.2	nonsynonymous SNV	exon10	c.G1459A	p.E487K	GALIQNYIREIEELRTKLLESEAMN	GALIQNYIREIEKLRTKLLESEAMN	1.0	9.0	unscreened	-	1913_1:200969852-200969852 C>T_GALIQNYIREIEKLRTKLLESEAMN
13:92408643-92408643 C>T	0.0	1913	MELANOMA	-	-	-	-	GPC5	ENST00000377067,p.P417S|uc010tif.2,p.P417S|NM_004466,p.P417S	protein_coding, processed_transcript	uc010tif.2	nonsynonymous SNV	exon5	c.C1249T	p.P417S	LCANELAAADGLPCWNGEDIVKSYT	LCANELAAADGLSCWNGEDIVKSYT	1.0	9.0	unscreened	-	1913_13:92408643-92408643 C>T_LCANELAAADGLSCWNGEDIVKSYT
19:54137898-54137898 G>A	0.0	1913	MELANOMA	-	-	-	-	DPRX	NM_001012728,p.E48K|ENST00000376650,p.E48K|uc002qcf.1,p.E48K	protein_coding	uc002qcf.1	nonsynonymous SNV	exon2	c.G142A	p.E48K	NENPYPNPSLQKEMASKIDIHPTVL	NENPYPNPSLQKKMASKIDIHPTVL	1.0	5.0	unscreened	-	1913_19:54137898-54137898 G>A_NENPYPNPSLQKKMASKIDIHPTVL
2:222298963-222298963 G>A	0.0	1913	MELANOMA	-	-	-	-	EPHA4	uc002vmq.3,p.R799C|ENST00000409938,p.R799C|ENST00000409854,p.R799C|NM_004438,p.R799C|ENST00000281821,p.R799C|uc010zlm.1,p.R740C|uc002vmr.2,p.R799C|ENST00000392071,p.R748C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zlm.1	nonsynonymous SNV	exon13	c.C2218T	p.R740C	PIRWTAPEAIAYRKFTSASDVWSYG	PIRWTAPEAIAYCKFTSASDVWSYG	1.0	5.0	unscreened	-	1913_2:222298963-222298963 G>A_PIRWTAPEAIAYCKFTSASDVWSYG
17:8018947-8018947 G>A	0.0	1913	MELANOMA	-	-	-	-	ALOXE3	uc010vuo.2,p.R270W|uc010cnr.3,p.R138W|ENST00000318227,p.R270W|uc002gka.3,p.R294W|ENST00000448843,p.R138W|NM_001165960,p.R270W|NM_021628,p.R138W|ENST00000380149,p.R294W	retained_intron, protein_coding	uc010vuo.2	nonsynonymous SNV	exon4	c.C808T	p.R270W	LPLLLDHRTRELRARQECYRWKIYA	LPLLLDHRTRELWARQECYRWKIYA	1.0	9.0	unscreened	-	1913_17:8018947-8018947 G>A_LPLLLDHRTRELWARQECYRWKIYA
19:44384237-44384237 C>T	0.0	1913	MELANOMA	-	-	-	-	ZNF404	ENST00000587539,p.E21K|uc031rle.1,p.E21K|ENST00000324394,p.E19K	protein_coding, processed_transcript	uc031rle.1	nonsynonymous SNV	exon2	c.G61A	p.E21K	SDVAIDFSQEEWEYLNSDQRDLYRD	SDVAIDFSQEEWKYLNSDQRDLYRD	5.0	4.0	unscreened	-	1913_19:44384237-44384237 C>T_SDVAIDFSQEEWKYLNSDQRDLYRD
10:123846348-123846348 C>T	0.0	1913	MELANOMA	-	-	-	-	TACC2	ENST00000369005,p.P1445S|ENST00000515273,p.P1445S|NM_206862,p.P1445S|uc001lfv.3,p.P1445S|NM_001291877,p.P1445S|uc009xzx.3,p.P1445S|ENST00000515603,p.P1445S|ENST00000453444,p.P1445S|ENST00000334433,p.P1445S|uc010qtv.2,p.P1445S|NM_001291876,p.P1445S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qtv.2	nonsynonymous SNV	exon4	c.C4333T	p.P1445S	AGRSAVGKDLTRPLGPEKLLDGPPG	AGRSAVGKDLTRSLGPEKLLDGPPG	8.0	3.0	unscreened	-	1913_10:123846348-123846348 C>T_AGRSAVGKDLTRSLGPEKLLDGPPG
10:13275788-13275788 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1504601;OCCURENCE=1(lung)	-	UCMA	NM_145314,p.G24E|uc001imd.3,p.G24E|ENST00000378681,p.G24E	protein_coding, processed_transcript	uc001imd.3	nonsynonymous SNV	exon2	c.G71A	p.G24E	FSAVVLLSMLREGTSVSVGTMQMAG	FSAVVLLSMLREETSVSVGTMQMAG	1.0	5.0	unscreened	-	1913_10:13275788-13275788 C>T_FSAVVLLSMLREETSVSVGTMQMAG
2:74901712-74901712 C>G	1.0	1913	MELANOMA	-	-	-	-	SEMA4F	uc021vjn.2,p.R304G|uc010ffq.2,p.R271G|uc002snc.2,p.R149G|NM_004263,p.R304G|NM_001271662,p.R271G|uc002sna.2,p.R304G|ENST00000357877,p.R304G|ENST00000339773,p.R149G|NM_001271661,p.R149G|ENST00000453930,p.R149G	protein_coding, processed_transcript, nonsense_mediated_decay	uc021vjn.2	nonsynonymous SNV	exon8	c.C910G	p.R304G	KADLLCPGPEHGRASSVLQDVAVLR	KADLLCPGPEHGGASSVLQDVAVLR	7.0	4.0	unscreened	-	1913_2:74901712-74901712 C>G_KADLLCPGPEHGGASSVLQDVAVLR
9:8633395-8633395 C>T	0.0	1913	MELANOMA	-	-	-	-	PTPRD	ENST00000537002,p.D92N|uc003zkp.3,p.D92N|uc003zkq.3,p.D92N|ENST00000397617,p.D92N|uc003zkt.1,p.D92N|uc003zkk.3,p.D92N|uc003zks.3,p.D92N|NM_001040712,p.D92N|ENST00000486161,p.D92N|NM_130392,p.D92N|NM_130393,p.D92N|ENST00000397611,p.D92N|ENST00000463477,p.D92N|ENST00000540109,p.D92N|uc003zkr.3,p.D92N|NM_002839,p.D92N|ENST00000397606,p.D92N|NM_130391,p.D92N|ENST00000360074,p.D92N|ENST00000358503,p.D92N|ENST00000381196,p.D92N|ENST00000356435,p.D92N|uc022bdj.1,p.D92N|NM_001171025,p.D92N|ENST00000355233,p.D92N	retained_intron, protein_coding, processed_transcript	uc022bdj.1	nonsynonymous SNV	exon3	c.G274A	p.D92N	SVLRIQPLRTPRDEAIYECVASNNV	SVLRIQPLRTPRNEAIYECVASNNV	1.0	9.0	unscreened	-	1913_9:8633395-8633395 C>T_SVLRIQPLRTPRNEAIYECVASNNV
1:151753961-151753961 T>G	1.0	1913	MELANOMA	-	-	-	-	TDRKH	ENST00000368823,p.K76T|uc001ezb.4,p.K76T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ezb.4	nonsynonymous SNV	exon3	c.A227C	p.K76T	VKLIIGRQGANIKQTGARIDVDTED	VKLIIGRQGANITQTGARIDVDTED	6.0	1.0	unscreened	-	1913_1:151753961-151753961 T>G_VKLIIGRQGANITQTGARIDVDTED
1:55266737-55266737 C>T	0.0	1913	MELANOMA	-	-	-	-	TTC22	NM_017904,p.E34K|ENST00000371276,p.E34K|uc001cxz.4,p.E34K|uc009vzt.1,p.E34K|ENST00000371274,p.E34K|NM_001114108,p.E34K	retained_intron, protein_coding	uc009vzt.1	nonsynonymous SNV	exon1	c.G100A	p.E34K	PGHFHLEMQLNFEPRSPAPQRARDL	PGHFHLEMQLNFKPRSPAPQRARDL	1.0	9.0	unscreened	-	1913_1:55266737-55266737 C>T_PGHFHLEMQLNFKPRSPAPQRARDL
19:55450266-55450266 C>T	0.0	1913	MELANOMA	-	-	-	-	NLRP7	uc002qih.4,p.E641K|uc010esk.3,p.E641K|ENST00000586379,p.E641K|ENST00000590030,p.E641K|NM_001127255,p.E641K|ENST00000592784,p.E641K|ENST00000588756,p.E641K|NM_206828,p.E641K|ENST00000340844,p.E641K|ENST00000446217,p.E669K|uc010esl.3,p.E669K|uc002qii.4,p.E641K	protein_coding, nonsense_mediated_decay	uc010esl.3	nonsynonymous SNV	exon6	c.G2005A	p.E669K	FLENYMDFELDIEFERCTYLTIPNW	FLENYMDFELDIKFERCTYLTIPNW	1.0	3.0	unscreened	-	1913_19:55450266-55450266 C>T_FLENYMDFELDIKFERCTYLTIPNW
1:16371028-16371028 A>G	0.0	1913	MELANOMA	-	-	-	-	CLCNKB	uc001axx.5,p.N14S|NM_000085,p.N14S|ENST00000375679,p.N14S	protein_coding	uc001axx.5	nonsynonymous SNV	exon2	c.A41G	p.N14S	EEFVGLREGSSGNPVTLQELWGPCP	EEFVGLREGSSGSPVTLQELWGPCP	1.0	1.0	unscreened	-	1913_1:16371028-16371028 A>G_EEFVGLREGSSGSPVTLQELWGPCP
14:86089330-86089330 T>A	0.0	1913	MELANOMA	-	-	-	-	FLRT2	uc021rxf.1,p.I491N|uc010atd.3,p.I491N|NM_013231,p.I491N|ENST00000330753,p.I491N|ENST00000554746,p.I491N|uc001xvr.3,p.I491N	retained_intron, protein_coding, processed_transcript	uc021rxf.1	nonsynonymous SNV	exon1	c.T1472A	p.I491N	SLVNLEPRSTYRICLVPLDAFNYRA	SLVNLEPRSTYRNCLVPLDAFNYRA	1.0	7.0	unscreened	-	1913_14:86089330-86089330 T>A_SLVNLEPRSTYRNCLVPLDAFNYRA
3:62636686-62636686 C>G	0.0	1913	MELANOMA	-	-	-	-	CADPS	ENST00000283269,p.V347L|ENST00000383710,p.V347L|uc003dll.2,p.V347L|uc003dlm.2,p.V347L|ENST00000490353,p.V347L|uc003dln.2,p.V347L|uc021wzv.1,p.V347L|NM_183393,p.V347L|NM_003716,p.V347L|ENST00000357948,p.V347L|NM_183394,p.V347L	retained_intron, protein_coding, processed_transcript	uc021wzv.1	nonsynonymous SNV	exon5	c.G1039C	p.V347L	MENMYIEELKSSVNLLMANLESMPV	MENMYIEELKSSLNLLMANLESMPV	1.0	9.0	unscreened	-	1913_3:62636686-62636686 C>G_MENMYIEELKSSLNLLMANLESMPV
6:134349893-134349893 G>A	0.0	1913	MELANOMA	-	-	-	-	SLC2A12	uc003qem.1,p.S357L|ENST00000275230,p.S357L|NM_145176,p.S357L	protein_coding	uc003qem.1	nonsynonymous SNV	exon2	c.C1070T	p.S357L	TFLCIGSSVMAASLVTMGIVNLNIH	TFLCIGSSVMAALLVTMGIVNLNIH	1.0	3.0	unscreened	-	1913_6:134349893-134349893 G>A_TFLCIGSSVMAALLVTMGIVNLNIH
X:135429577-135429577 C>T	0.0	1913	MELANOMA	-	-	-	-	GPR112	uc010nsc.1,p.R1005C|ENST00000370652,p.R1238C|ENST00000287534,p.R1175C|ENST00000394141,p.R1033C|ENST00000394143,p.R1238C|uc010nsb.1,p.R1033C|ENST00000412101,p.R1033C|NM_153834,p.R1238C|uc004ezu.1,p.R1238C	protein_coding	uc010nsc.1	nonsynonymous SNV	exon1	c.C3013T	p.R1005C	SVNSHISSSATYRVHTPVSIQLVTS	SVNSHISSSATYCVHTPVSIQLVTS	1.0	9.0	unscreened	-	1913_X:135429577-135429577 C>T_SVNSHISSSATYCVHTPVSIQLVTS
14:19573100-19573100 G>A	0.0	1913	MELANOMA	-	-	-	-	POTEG	ENST00000547889,p.E400K|ENST00000409832,p.E400K|uc001vuz.1,p.E400K|NM_001005356,p.E400K	protein_coding, nonsense_mediated_decay	uc001vuz.1	nonsynonymous SNV	exon8	c.G1198A	p.E400K	QRLKGSENSQPEEMSQEPEINKGGD	QRLKGSENSQPEKMSQEPEINKGGD	1.0	1.0	unscreened	-	1913_14:19573100-19573100 G>A_QRLKGSENSQPEKMSQEPEINKGGD
12:56755647-56755647 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1128531;OCCURENCE=1(prostate)	-	APOF	ENST00000541105,p.G97S|NM_001638,p.G115S|uc001sle.1,p.G115S|ENST00000398189,p.G115S	protein_coding	uc001sle.1	nonsynonymous SNV	exon2	c.G343A	p.G115S	DVWALQLQLYRQGGVNATQVLIQHL	DVWALQLQLYRQSGVNATQVLIQHL	1.0	9.0	unscreened	-	1913_12:56755647-56755647 C>T_DVWALQLQLYRQSGVNATQVLIQHL
5:26906834-26906834 C>T	0.0	1913	MELANOMA	-	-	-	-	CDH9	NM_016279,p.E213K|uc010iug.3,p.E213K|ENST00000231021,p.E213K|uc003jgs.1,p.E213K	retained_intron, protein_coding	uc010iug.3	nonsynonymous SNV	exon4	c.G637A	p.E213K	ILQGQPYFSVDPESGIIKTALPDMS	ILQGQPYFSVDPKSGIIKTALPDMS	1.0	3.0	unscreened	-	1913_5:26906834-26906834 C>T_ILQGQPYFSVDPKSGIIKTALPDMS
12:52941688-52941688 G>A	0.0	1913	MELANOMA	0.0009	-	-	-	KRT71	ENST00000267119,p.R353W|NM_033448,p.R353W|uc001sao.3,p.R353W	protein_coding	uc001sao.3	nonsynonymous SNV	exon6	c.C1057T	p.R353W	LKNTKNEISELTRLIQRIRSEIENV	LKNTKNEISELTWLIQRIRSEIENV	1.0	9.0	unscreened	-	1913_12:52941688-52941688 G>A_LKNTKNEISELTWLIQRIRSEIENV
3:42916897-42916897 C>T	0.0	1913	MELANOMA	-	-	-	-	CYP8B1	ENST00000437102,p.D138N|NM_004391,p.D138N|uc003cmh.3,p.D138N|ENST00000316161,p.D138N	protein_coding	uc003cmh.3	nonsynonymous SNV	exon1	c.G412A	p.D138N	ASTKHLRGDGLKDLNETMLDSLSFV	ASTKHLRGDGLKNLNETMLDSLSFV	1.0	1.0	unscreened	-	1913_3:42916897-42916897 C>T_ASTKHLRGDGLKNLNETMLDSLSFV
15:77046262-77046262 C>T	1.0	1913	MELANOMA	-	-	-	-	SCAPER	uc002bcb.1,p.E591K|NM_020843,p.E585K|uc002bbz.1,p.E456K|ENST00000538941,p.E339K|ENST00000564590,p.E591K|uc002bby.3,p.E585K|ENST00000324767,p.E585K|ENST00000563290,p.E585K|uc002bca.1,p.E450K|ENST00000565970,p.E591K|uc002bbx.3,p.E339K|NM_001145923,p.E339K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bcb.1	nonsynonymous SNV	exon15	c.G1771A	p.E591K	LEREKDVRKWKEELLDQRRRMMEEK	LEREKDVRKWKEKLLDQRRRMMEEK	6.0	2.0	unscreened	-	1913_15:77046262-77046262 C>T_LEREKDVRKWKEKLLDQRRRMMEEK
2:131414217-131414217 G>A	0.0	1913	MELANOMA	-	-	-	-	POTEJ	uc021vor.2,p.M628I|NM_001277083,p.M628I|ENST00000409602,p.M628I	protein_coding	uc021vor.2	nonsynonymous SNV	exon15	c.G1884A	p.M628I	EEIAMLRLELDTMKHQSQLRKKKYL	EEIAMLRLELDTIKHQSQLRKKKYL	1.0	1.0	unscreened	-	1913_2:131414217-131414217 G>A_EEIAMLRLELDTIKHQSQLRKKKYL
16:57965701-57965701 G>A	0.0	1913	MELANOMA	-	-	-	-	CNGB1	ENST00000564448,p.P479L|NM_001286130,p.P479L|ENST00000251102,p.P485L|uc002emt.2,p.P485L|NM_001297,p.P485L|uc010cdh.2,p.P479L	retained_intron, protein_coding, processed_transcript	uc010cdh.2	nonsynonymous SNV	exon17	c.C1436T	p.P479L	DADSCPLMAEENPPSTVLPPPSPAK	DADSCPLMAEENLPSTVLPPPSPAK	1.0	6.0	unscreened	-	1913_16:57965701-57965701 G>A_DADSCPLMAEENLPSTVLPPPSPAK
8:105257282-105257282 G>A	0.0	1913	MELANOMA	-	-	ID=COSM231164,COSM231165;OCCURENCE=1(skin)	-	RIMS2	uc003ylr.3,p.G997E|NM_014677,p.G972E|ENST00000408894,p.G1165E|ENST00000339750,p.G94E|ENST00000436393,p.G1176E|uc003ylp.3,p.G1158E|NM_001282881,p.G997E|NM_001282882,p.G94E|ENST00000507740,p.G972E|ENST00000262231,p.G997E|uc003ylw.2,p.G1165E|uc003yls.3,p.G1176E|ENST00000406091,p.G1158E|ENST00000523362,p.G94E|uc003ylq.3,p.G972E|NM_001100117,p.G1158E	retained_intron, protein_coding, processed_transcript	uc003ylw.2	nonsynonymous SNV	exon23	c.G3494A	p.G1165E	STDGSMNSYSSEGNLIFPGVRLASD	STDGSMNSYSSEENLIFPGVRLASD	2.0	5.0	unscreened	-	1913_8:105257282-105257282 G>A_STDGSMNSYSSEENLIFPGVRLASD
10:15701011-15701011 A>C	0.0	1913	MELANOMA	-	-	-	-	ITGA8	NM_003638,p.F312C|uc001ioc.1,p.F312C|ENST00000378076,p.F312C|uc010qcb.1,p.F297C|NM_001291494,p.F297C	protein_coding, processed_transcript	uc010qcb.1	nonsynonymous SNV	exon9	c.T890G	p.F297C	IINSTDMTFIQNFTGEQMASYFGYT	IINSTDMTFIQNCTGEQMASYFGYT	1.0	1.0	unscreened	-	1913_10:15701011-15701011 A>C_IINSTDMTFIQNCTGEQMASYFGYT
17:12655737-12655737 G>A	0.0	1913	MELANOMA	-	-	-	-	MYOCD	uc002gnp.1,p.E282K|uc002gnn.2,p.E378K|NM_001146312,p.E378K|ENST00000443061,p.E83K|ENST00000395988,p.E282K|uc002gnq.2,p.E97K|ENST00000425538,p.E378K|ENST00000343344,p.E378K|uc002gno.2,p.E378K|NM_153604,p.E378K	protein_coding, nonsense_mediated_decay	uc002gnq.2	nonsynonymous SNV	exon3	c.G289A	p.E97K	PLPPNLDDLKVSELRQQLRIRGLPV	PLPPNLDDLKVSKLRQQLRIRGLPV	1.0	1.0	unscreened	-	1913_17:12655737-12655737 G>A_PLPPNLDDLKVSKLRQQLRIRGLPV
19:56369180-56369180 C>T	0.0	1913	MELANOMA	-	-	-	-	NLRP4	uc002qmd.4,p.P141S|ENST00000587891,p.P66S|NM_134444,p.P141S|uc002qmf.3,p.P66S|ENST00000301295,p.P141S|ENST00000346986,p.P141S|ENST00000587464,p.P141S	protein_coding	uc002qmf.3	nonsynonymous SNV	exon1	c.C196T	p.P66S	QEECDHLDRLFAPKEAGKQPRTVII	QEECDHLDRLFASKEAGKQPRTVII	1.0	6.0	unscreened	-	1913_19:56369180-56369180 C>T_QEECDHLDRLFASKEAGKQPRTVII
X:20082900-20082900 C>T	0.0	1913	MELANOMA	-	-	-	-	MAP7D2	NM_001168466,p.D52N|ENST00000443379,p.D52N|NM_001168465,p.D52N|uc010nfo.2,p.D52N|ENST00000379643,p.D52N|uc004czr.2,p.D52N|uc011mjj.2,p.D52N|ENST00000379651,p.D52N|NM_152780,p.D52N	protein_coding, processed_transcript, nonsense_mediated_decay	uc011mjj.2	nonsynonymous SNV	exon2	c.G154A	p.D52N	YRPQGMEGFLKSDERQRLAKERREE	YRPQGMEGFLKSNERQRLAKERREE	3.0	9.0	unscreened	-	1913_X:20082900-20082900 C>T_YRPQGMEGFLKSNERQRLAKERREE
9:14776185-14776185 C>T	0.0	1913	MELANOMA	-	-	-	-	FREM1	NM_001177704,p.G23R|uc003zll.3,p.G23R|ENST00000380894,p.G23R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zll.3	nonsynonymous SNV	exon2	c.G67A	p.G23R	ALPLFTRFIISNGLRTEHGVFEITL	ALPLFTRFIISNRLRTEHGVFEITL	1.0	9.0	unscreened	-	1913_9:14776185-14776185 C>T_ALPLFTRFIISNRLRTEHGVFEITL
3:121822544-121822544 G>A	0.0	1913	MELANOMA	-	-	-	-	CD86	NM_006889,p.G78S|uc003eeu.3,p.G78S|uc021xcz.1,p.G78S|uc003eet.3,p.G84S|ENST00000482356,p.G78S|ENST00000393627,p.G78S|NM_175862,p.G84S|ENST00000330540,p.G84S|NM_176892,p.G78S	retained_intron, protein_coding, processed_transcript	uc021xcz.1	nonsynonymous SNV	exon3	c.G232A	p.G78S	KEKFDSVHSKYMGRTSFDSDSWTLR	KEKFDSVHSKYMSRTSFDSDSWTLR	1.0	2.0	unscreened	-	1913_3:121822544-121822544 G>A_KEKFDSVHSKYMSRTSFDSDSWTLR
12:20874867-20874867 C>T	0.0	1913	MELANOMA	-	-	ID=COSM692873,COSM1146967;OCCURENCE=1(lung)	-	SLCO1C1	uc010sij.2,p.S253F|ENST00000545102,p.S184F|uc010sii.2,p.S302F|ENST00000540354,p.S253F|uc010sik.2,p.S184F|ENST00000266509,p.S302F|NM_001145945,p.S253F|uc009zip.3,p.S136F|NM_001145946,p.S302F|uc001rei.3,p.S302F|NM_001145944,p.S184F|ENST00000381552,p.S302F|ENST00000545604,p.S302F|NM_017435,p.S302F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sik.2	nonsynonymous SNV	exon6	c.C551T	p.S184F	VPFWYLPKSLPRSQSREDSNSSSEK	VPFWYLPKSLPRFQSREDSNSSSEK	2.0	2.0	unscreened	-	1913_12:20874867-20874867 C>T_VPFWYLPKSLPRFQSREDSNSSSEK
3:151087245-151087245 G>A	0.0	1913	MELANOMA	-	-	ID=COSM304309;OCCURENCE=1(large_intestine)	-	MED12L	ENST00000474524,p.R1156K|ENST00000273432,p.R1016K|NM_053002,p.R1156K|uc003eyp.3,p.R1156K|uc003eyy.1,p.R319K|uc011bnz.2,p.R1016K	protein_coding, processed_transcript	uc011bnz.2	nonsynonymous SNV	exon22	c.G3047A	p.R1016K	LPQATGKPFPGIRSSCDRHLLAAAH	LPQATGKPFPGIKSSCDRHLLAAAH	4.0	8.0	unscreened	-	1913_3:151087245-151087245 G>A_LPQATGKPFPGIKSSCDRHLLAAAH
13:28964124-28964124 C>T	0.0	1913	MELANOMA	-	-	-	-	FLT1	ENST00000541932,p.R593Q|NM_001159920,p.R593Q|NM_001160030,p.R593Q|uc001usc.3,p.R593Q|uc001usb.3,p.R593Q|ENST00000282397,p.R593Q|uc010aar.1,p.R593Q|NM_002019,p.R593Q|uc010aat.1,p.R76Q	protein_coding	uc010aat.1	nonsynonymous SNV	exon4	c.G227A	p.R76Q	KFLYRDVTWILLRTVNNRTMHYSIS	KFLYRDVTWILLQTVNNRTMHYSIS	1.0	9.0	unscreened	-	1913_13:28964124-28964124 C>T_KFLYRDVTWILLQTVNNRTMHYSIS
3:138762879-138762879 C>T	0.0	1913	MELANOMA	-	-	-	-	PRR23C	uc011bmt.1,p.R195Q|NM_001134657,p.R195Q|ENST00000502927,p.R195Q|ENST00000413199,p.R195Q	protein_coding	uc011bmt.1	nonsynonymous SNV	exon1	c.G584A	p.R195Q	RSMFSPYREGPIRGPCALAPNPSSE	RSMFSPYREGPIQGPCALAPNPSSE	1.0	8.0	unscreened	-	1913_3:138762879-138762879 C>T_RSMFSPYREGPIQGPCALAPNPSSE
9:4118013-4118013 C>T	0.0	1913	MELANOMA	-	-	-	-	GLIS3	uc003zhx.1,p.D489N|uc003zic.1,p.D489N|uc010mhi.1,p.D296N|uc003zib.1,p.D333N|uc003zie.1,p.D489N|uc003zih.1,p.D267N|uc003zhw.1,p.D334N|NM_152629,p.D334N|uc003zig.1,p.D333N|uc010mhh.1,p.D364N|uc003zif.1,p.D267N|uc003zid.1,p.D267N|NM_001042413,p.D489N|uc003zhz.1,p.D267N|ENST00000381971,p.D489N|ENST00000324333,p.D334N|uc003zhy.1,p.D267N|uc010mhg.1,p.D267N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010mhi.1	nonsynonymous SNV	exon2	c.G886A	p.D296N	AQQLALPQATLDDDGEMDGIGGKHC	AQQLALPQATLDNDGEMDGIGGKHC	4.0	9.0	unscreened	-	1913_9:4118013-4118013 C>T_AQQLALPQATLDNDGEMDGIGGKHC
1:231344744-231344744 C>T	0.0	1913	MELANOMA	-	-	-	-	TRIM67	ENST00000449018,p.S562F|NM_001004342,p.S624F|ENST00000366653,p.S624F|ENST00000366652,p.S624F|NM_001300889,p.S562F|ENST00000444294,p.S622F|uc009xfn.1,p.S624F	protein_coding	uc009xfn.1	nonsynonymous SNV	exon8	c.C1871T	p.S624F	FDPNSGHRDIILSNDNQTATCSSYD	FDPNSGHRDIILFNDNQTATCSSYD	1.0	8.0	unscreened	-	1913_1:231344744-231344744 C>T_FDPNSGHRDIILFNDNQTATCSSYD
12:130921698-130921698 G>T	0.0	1913	MELANOMA	-	-	-	-	RIMBP2	ENST00000535703,p.P490T|ENST00000536002,p.P490T|uc001uil.2,p.P582T|uc001uim.3,p.P490T|ENST00000261655,p.P582T|NM_015347,p.P582T	retained_intron, protein_coding, nonsense_mediated_decay	uc001uim.3	nonsynonymous SNV	exon14	c.C1468A	p.P490T	QGESVDSAVAAVPPELLVPPTPHPR	QGESVDSAVAAVTPELLVPPTPHPR	1.0	2.0	unscreened	-	1913_12:130921698-130921698 G>T_QGESVDSAVAAVTPELLVPPTPHPR
3:109049386-109049386 G>A	0.0	1913	MELANOMA	-	-	-	-	DPPA4	uc011bhp.1,p.P222S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bhp.1	nonsynonymous SNV	exon5	c.C664T	p.P222S	SARARTPEAVESPQEASGKRNMKSL	SARARTPEAVESSQEASGKRNMKSL	1.0	1.0	unscreened	-	1913_3:109049386-109049386 G>A_SARARTPEAVESSQEASGKRNMKSL
2:130831845-130831845 G>A	0.0	1913	MELANOMA	-	-	-	-	POTEF	ENST00000409914,p.P1067L|uc010fmh.2,p.P1067L|NM_001099771,p.P1067L|ENST00000357462,p.P1067L	protein_coding	uc010fmh.2	nonsynonymous SNV	exon17	c.C3200T	p.P1067L	MWISKQEYDESGPSIVHRKCL	MWISKQEYDESGLSIVHRKCL	2.0	4.0	unscreened	-	1913_2:130831845-130831845 G>A_MWISKQEYDESGLSIVHRKCL
1:183532642-183532642 C>T	0.0	1913	MELANOMA	-	-	-	-	NCF2	uc001gqk.4,p.G369R|uc001gqj.4,p.G369R|NM_001190794,p.G324R|NM_001127651,p.G369R|NM_000433,p.G369R|ENST00000367535,p.G369R|uc010poe.2,p.G288R|ENST00000418089,p.G288R|ENST00000419402,p.G108R|ENST00000367536,p.G369R|uc010pod.2,p.G324R|ENST00000413720,p.G324R|ENST00000420553,p.G20R|NM_001190789,p.G288R	protein_coding, processed_transcript	uc010poe.2	nonsynonymous SNV	exon10	c.G862A	p.G288R	HYKYTVVMKTQPGLPYSQVRDMVSK	HYKYTVVMKTQPRLPYSQVRDMVSK	5.0	2.0	unscreened	-	1913_1:183532642-183532642 C>T_HYKYTVVMKTQPRLPYSQVRDMVSK
10:90362336-90362336 C>T	0.0	1913	MELANOMA	-	-	-	-	LIPJ	uc001kff.3,p.R243C|ENST00000371939,p.R243C|NM_001010939,p.R243C	retained_intron, protein_coding	uc001kff.3	nonsynonymous SNV	exon9	c.C727T	p.R243C	MFGYDPKNLNMSRLDVYFSHNPAGT	MFGYDPKNLNMSCLDVYFSHNPAGT	1.0	3.0	unscreened	-	1913_10:90362336-90362336 C>T_MFGYDPKNLNMSCLDVYFSHNPAGT
1:152278054-152278054 G>T	0.0	1913	MELANOMA	-	-	-	-	FLG	ENST00000368799,p.S3103Y|uc001ezu.1,p.S3103Y|NM_002016,p.S3103Y	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.C9308A	p.S3103Y	HEQAQDSSRHSASQYGQDTIRGHPG	HEQAQDSSRHSAYQYGQDTIRGHPG	3.0	9.0	unscreened	-	1913_1:152278054-152278054 G>T_HEQAQDSSRHSAYQYGQDTIRGHPG
X:104464952-104464952 C>T	0.0	1913	MELANOMA	-	-	-	-	TEX13A	NM_031274,p.E44K|ENST00000413579,p.E44K|NM_001291277,p.E44K|uc004emb.3,p.E44K|ENST00000372575,p.E44K|ENST00000372578,p.E44K|uc004ema.3,p.E44K	protein_coding	uc004emb.3	nonsynonymous SNV	exon2	c.G130A	p.E44K	PEFYLENISLSWEKVEDKLRAILED	PEFYLENISLSWKKVEDKLRAILED	1.0	9.0	unscreened	-	1913_X:104464952-104464952 C>T_PEFYLENISLSWKKVEDKLRAILED
10:55581802-55581802 G>A	0.0	1913	MELANOMA	-	-	-	-	PCDH15	NM_001142764,p.S1897L|uc021pqz.1,p.S1872L|ENST00000437009,p.S1826L|uc010qhy.1,p.S1902L|uc010qib.1,p.S1872L|uc010qhz.1,p.S1897L|NM_001142765,p.S1826L|uc010qia.1,p.S1875L|ENST00000395433,p.S1872L|NM_033056,p.S1895L|NM_001142768,p.S1875L|ENST00000395432,p.S1855L|NM_001142763,p.S1902L|NM_001142767,p.S1855L|NM_001142766,p.S1892L|uc001jjv.1,p.S749L|ENST00000373957,p.S749L|uc001jju.1,p.S1895L|uc010qhv.1,p.S1892L|NM_001142773,p.S1872L|ENST00000320301,p.S1895L|ENST00000361849,p.S1897L|uc010qhx.1,p.S1826L|uc010qhw.1,p.S1855L|ENST00000395430,p.S1892L|uc021pqy.1,p.S1897L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqz.1	nonsynonymous SNV	exon31	c.C5615T	p.S1872L	LRHVKNLAELEKSVANMYSQIEKNY	LRHVKNLAELEKLVANMYSQIEKNY	1.0	3.0	unscreened	-	1913_10:55581802-55581802 G>A_LRHVKNLAELEKLVANMYSQIEKNY
9:116931526-116931526 G>A	1.0	1913	MELANOMA	-	-	-	-	COL27A1	NM_032888,p.R564K|ENST00000356083,p.R564K|uc010mvd.2,p.R414K|ENST00000451716,p.R511K|uc011lxl.2,p.R564K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lxl.2	nonsynonymous SNV	exon3	c.G1691A	p.R564K	RKPVPLRPGKAARDVPLSDLTTRPS	RKPVPLRPGKAAKDVPLSDLTTRPS	6.0	9.0	unscreened	-	1913_9:116931526-116931526 G>A_RKPVPLRPGKAAKDVPLSDLTTRPS
1:244541846-244541846 G>A	0.0	1913	MELANOMA	0.0005	-	-	-	C1orf100	uc001iah.4,p.R77Q|ENST00000308105,p.R77Q|NM_001012970,p.R77Q	protein_coding, processed_transcript	uc001iah.4	nonsynonymous SNV	exon4	c.G230A	p.R77Q	HYQPQLDQQTLIRYICLRRHSKPAE	HYQPQLDQQTLIQYICLRRHSKPAE	4.0	4.0	unscreened	-	1913_1:244541846-244541846 G>A_HYQPQLDQQTLIQYICLRRHSKPAE
5:101585377-101585377 C>T	0.0	1913	MELANOMA	-	-	-	-	SLCO4C1	uc003knm.3,p.G529S|ENST00000310954,p.G529S|NM_180991,p.G529S	protein_coding	uc003knm.3	nonsynonymous SNV	exon9	c.G1585A	p.G529S	GDGVQYFSPCFAGCSNPVAHRKPKV	GDGVQYFSPCFASCSNPVAHRKPKV	1.0	4.0	unscreened	-	1913_5:101585377-101585377 C>T_GDGVQYFSPCFASCSNPVAHRKPKV
2:179411338-179411338 C>T	0.0	1913	MELANOMA	-	-	-	-	TTN	NM_001267550,p.R31606Q|uc031rqd.1,p.R29965Q|ENST00000342992,p.R29038Q|uc021vsy.2,p.R29038Q|ENST00000342175,p.R22733Q|uc021vta.2,p.R22666Q|ENST00000591111,p.R29965Q|ENST00000589042,p.R31606Q|NM_133432,p.R22666Q|ENST00000460472,p.R22541Q|uc021vtb.2,p.R22541Q|NM_133437,p.R22733Q|NM_003319,p.R22541Q|NM_133378,p.R29038Q|uc031rqc.1,p.R31606Q|NM_001256850,p.R29965Q|uc021vsz.2,p.R22733Q|ENST00000359218,p.R22666Q	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon291	c.G89894A	p.R29965Q	SKGSESTGPVTCRDEYAPPKAELDA	SKGSESTGPVTCQDEYAPPKAELDA	2.0	6.0	unscreened	-	1913_2:179411338-179411338 C>T_SKGSESTGPVTCQDEYAPPKAELDA
12:53207742-53207742 G>A	0.0	1913	MELANOMA	-	-	-	-	KRT4	uc031qhk.1,p.S34F|ENST00000551956,p.S34F|ENST00000458244,p.S34F|NM_002272,p.S34F|ENST00000552668,p.S34F|ENST00000548097,p.S34F|ENST00000293774,p.S108F	retained_intron, protein_coding, nonsense_mediated_decay	uc031qhk.1	nonsynonymous SNV	exon1	c.C101T	p.S34F	VGGGKRGAFSSVSMSGGAGRCSSGG	VGGGKRGAFSSVFMSGGAGRCSSGG	1.0	2.0	unscreened	-	1913_12:53207742-53207742 G>A_VGGGKRGAFSSVFMSGGAGRCSSGG
5:177156539-177156539 C>T	0.0	1913	MELANOMA	-	-	-	-	FAM153A	ENST00000510276,p.E217K|ENST00000360669,p.E217K|uc003mic.3,p.E217K|NM_173663,p.E217K|ENST00000440605,p.E217K|uc010jkp.1,p.E217K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jkp.1	nonsynonymous SNV	exon18	c.G649A	p.E217K	PATLAKSDLEDLEEHVPEQTVSEEA	PATLAKSDLEDLKEHVPEQTVSEEA	1.0	7.0	unscreened	-	1913_5:177156539-177156539 C>T_PATLAKSDLEDLKEHVPEQTVSEEA
6:73017047-73017047 G>A	0.0	1913	MELANOMA	-	-	-	-	RIMS1	ENST00000453976,p.E478K|uc011dyb.2,p.E710K|uc010kaq.3,p.E633K|ENST00000264839,p.E1162K|ENST00000517960,p.E1105K|uc003pgd.3,p.E379K|uc003pgc.3,p.E762K|ENST00000491071,p.E1136K|ENST00000348717,p.E1105K|ENST00000370420,p.E361K|uc003pge.3,p.E353K|uc003pga.4,p.E1313K|NM_001168407,p.E633K|ENST00000538414,p.E119K|NM_014989,p.E1313K|uc003pgf.3,p.E322K|ENST00000521978,p.E1313K|ENST00000401910,p.E633K|uc011dye.2,p.E119K	retained_intron, protein_coding, processed_transcript	uc011dye.2	nonsynonymous SNV	exon8	c.G355A	p.E119K	RFKQTTGSGSSQELDREQYSKYNIH	RFKQTTGSGSSQKLDREQYSKYNIH	1.0	3.0	unscreened	-	1913_6:73017047-73017047 G>A_RFKQTTGSGSSQKLDREQYSKYNIH
3:156139412-156139412 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1693668,COSM1693670,COSM1693669;OCCURENCE=1(skin)	-	KCNAB1	ENST00000475456,p.G38R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000475456	nonsynonymous SNV	exon2	c.G112A	p.G38R	LFQRYEVKTRNLGKSGLRVSCLGLG	LFQRYEVKTRNLRKSGLRVSCLGLG	8.0	7.0	unscreened	-	1913_3:156139412-156139412 G>A_LFQRYEVKTRNLRKSGLRVSCLGLG
12:15262150-15262150 C>T	0.0	1913	MELANOMA	-	-	-	-	RERG	ENST00000536465,p.R165Q|ENST00000538313,p.R165Q|ENST00000546331,p.R146Q|uc001rcs.3,p.R165Q|uc001rct.3,p.R165Q|uc010shu.2,p.R146Q|ENST00000256953,p.R165Q|NM_001190726,p.R146Q|NM_032918,p.R165Q	retained_intron, protein_coding, processed_transcript	uc010shu.2	nonsynonymous SNV	exon4	c.G437A	p.R146Q	EGNITEIFYELCREVRRRRMVQGKT	EGNITEIFYELCQEVRRRRMVQGKT	1.0	9.0	unscreened	-	1913_12:15262150-15262150 C>T_EGNITEIFYELCQEVRRRRMVQGKT
8:73849446-73849446 C>T	0.0	1913	MELANOMA	-	-	-	-	KCNB2	ENST00000523207,p.S619L|NM_004770,p.S619L|uc003xzb.3,p.S619L	protein_coding	uc003xzb.3	nonsynonymous SNV	exon3	c.C1856T	p.S619L	TSCATDFTETERSPLPPPSASHLQM	TSCATDFTETERLPLPPPSASHLQM	1.0	4.0	unscreened	-	1913_8:73849446-73849446 C>T_TSCATDFTETERLPLPPPSASHLQM
6:116442417-116442417 C>T	0.0	1913	MELANOMA	-	-	-	-	COL10A1	ENST00000430695,p.P24L	protein_coding	ENST00000430695	nonsynonymous SNV	exon2	c.C71T	p.P24L	FPKPGGPGGPAIPGAPGRPFVPGIP	FPKPGGPGGPAILGAPGRPFVPGIP	1.0	8.0	unscreened	-	1913_6:116442417-116442417 C>T_FPKPGGPGGPAILGAPGRPFVPGIP
5:7900151-7900151 C>T	1.0	1913	MELANOMA	-	-	-	-	MTRR	NM_024010,p.L720F|uc003jee.4,p.L693F|NM_002454,p.L693F|uc003jed.3,p.L720F|ENST00000440940,p.L693F|ENST00000264668,p.L720F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jee.4	nonsynonymous SNV	exon15	c.C2077T	p.L693F	KTLATLKEEKRYLQDIWS	KTLATLKEEKRYFQDIWS	9.0	1.0	unscreened	-	1913_5:7900151-7900151 C>T_KTLATLKEEKRYFQDIWS
X:30254550-30254550 A>T	0.0	1913	MELANOMA	-	-	-	-	MAGEB3	NM_002365,p.K170I|ENST00000378986,p.K170I|uc004dca.2,p.K170I|ENST00000361644,p.K170I|uc022bug.1,p.K170I	protein_coding	uc022bug.1	nonsynonymous SNV	exon1	c.A509T	p.K170I	FNMEVVFGVDLKKVDSTKDSYVLVS	FNMEVVFGVDLKIVDSTKDSYVLVS	1.0	9.0	unscreened	-	1913_X:30254550-30254550 A>T_FNMEVVFGVDLKIVDSTKDSYVLVS
6:70952414-70952414 C>T	1.0	1913	MELANOMA	-	-	-	-	COL9A1	uc003pfg.4,p.S626N|uc003pfe.4,p.S199N|ENST00000357250,p.S626N|ENST00000370499,p.S383N|NM_001851,p.S626N|ENST00000320755,p.S383N|uc003pff.4,p.S383N|NM_078485,p.S383N	retained_intron, protein_coding, processed_transcript	uc003pfg.4	nonsynonymous SNV	exon29	c.G1877A	p.S626N	EVGPRGPQGLPGSRGELGPVGSPGL	EVGPRGPQGLPGNRGELGPVGSPGL	10.0	2.0	unscreened	-	1913_6:70952414-70952414 C>T_EVGPRGPQGLPGNRGELGPVGSPGL
18:28989498-28989498 G>A	0.0	1913	MELANOMA	-	-	-	-	DSG4	ENST00000359747,p.G673S|uc002kwq.2,p.G673S|NM_001134453,p.G673S|uc002kwr.2,p.G673S|ENST00000308128,p.G673S|NM_177986,p.G673S	protein_coding	uc002kwr.2	nonsynonymous SNV	exon13	c.G2017A	p.G673S	EGLGTRFAPVPEGGEGVMQSWRIEG	EGLGTRFAPVPESGEGVMQSWRIEG	1.0	9.0	unscreened	-	1913_18:28989498-28989498 G>A_EGLGTRFAPVPESGEGVMQSWRIEG
5:176314294-176314294 G>C	0.0	1913	MELANOMA	-	-	-	-	HK3	ENST00000292432,p.R549G|NM_002115,p.R549G|uc003mfa.3,p.R549G|uc003mez.3,p.R105G	retained_intron, protein_coding, nonsense_mediated_decay	uc003mfa.3	nonsynonymous SNV	exon12	c.C1645G	p.R549G	DFLALDLGGTNFRVLLVRVTTGVQI	DFLALDLGGTNFGVLLVRVTTGVQI	4.0	4.0	unscreened	-	1913_5:176314294-176314294 G>C_DFLALDLGGTNFGVLLVRVTTGVQI
8:41566361-41566361 C>T	0.0	1913	MELANOMA	-	-	-	2	ANK1	uc003xol.3,p.E645K|uc003xom.3,p.E678K|NM_000037,p.E645K|uc003xoj.3,p.E645K|NM_020477,p.E645K|NM_020476,p.E645K|ENST00000379758,p.E645K|NM_001142446,p.E678K|ENST00000352337,p.E645K|ENST00000347528,p.E645K|ENST00000265709,p.E678K|NM_020475,p.E645K|ENST00000396942,p.E645K|uc003xoi.3,p.E645K|ENST00000289734,p.E645K|ENST00000396945,p.E645K|uc003xok.3,p.E645K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xom.3	nonsynonymous SNV	exon17	c.G2032A	p.E678K	VQGVTPLHLAAQEGHAEMVALLLSK	VQGVTPLHLAAQKGHAEMVALLLSK	3.0	5.0	unscreened	-	1913_8:41566361-41566361 C>T_VQGVTPLHLAAQKGHAEMVALLLSK
6:167570881-167570881 A>C	0.0	1913	MELANOMA	-	-	-	-	GPR31	uc011egq.2,p.C147G|ENST00000366834,p.C147G|NM_005299,p.C147G	protein_coding	uc011egq.2	nonsynonymous SNV	exon1	c.T439G	p.C147G	SGLVWLLMVALTCPGLLISEAAQNS	SGLVWLLMVALTGPGLLISEAAQNS	1.0	6.0	unscreened	-	1913_6:167570881-167570881 A>C_SGLVWLLMVALTGPGLLISEAAQNS
19:37676674-37676674 G>A	0.0	1913	MELANOMA	-	-	-	-	ZNF585B	ENST00000531805,p.R534C|ENST00000532828,p.R589C|ENST00000312908,p.R177C|NM_152279,p.R589C|uc002ofr.1,p.R403C|uc002ofq.3,p.R589C	protein_coding, processed_transcript, nonsense_mediated_decay	uc002ofr.1	nonsynonymous SNV	exon6	c.C1207T	p.R403C	PYVCTECGRAFIRKSNFITHQRIHT	PYVCTECGRAFICKSNFITHQRIHT	5.0	7.0	unscreened	-	1913_19:37676674-37676674 G>A_PYVCTECGRAFICKSNFITHQRIHT
11:76938948-76938948 C>T	0.0	1913	MELANOMA	-	-	-	-	GDPD4	uc001oyf.3,p.E496K|NM_182833,p.E496K|ENST00000315938,p.E496K|ENST00000376217,p.E496K	retained_intron, protein_coding, processed_transcript	uc001oyf.3	nonsynonymous SNV	exon15	c.G1486A	p.E496K	VAIFCFHWRRETEKEKLFETSSTRT	VAIFCFHWRRETKKEKLFETSSTRT	1.0	7.0	unscreened	-	1913_11:76938948-76938948 C>T_VAIFCFHWRRETKKEKLFETSSTRT
10:5141003-5141003 G>A	1.0	1913	MELANOMA	-	-	-	-	AKR1C3	uc001ihu.3,p.E127K|uc021pml.1,p.E127K|ENST00000380554,p.E127K|uc010qap.2,p.E104K|ENST00000605149,p.E104K|NM_001253908,p.E127K|ENST00000602997,p.E104K|NM_003739,p.E127K|uc001ihr.3,p.E127K	protein_coding, processed_transcript	uc021pml.1	nonsynonymous SNV	exon4	c.G379A	p.E127K	LIHSPMSLKPGEELSPTDENGKVIF	LIHSPMSLKPGEKLSPTDENGKVIF	3.0	5.0	unscreened	-	1913_10:5141003-5141003 G>A_LIHSPMSLKPGEKLSPTDENGKVIF
19:55253621-55253621 C>T	0.0	1913	MELANOMA	-	-	-	-	KIR2DL3	NM_015868,p.P89L|uc010erw.1,p.P89L|ENST00000342376,p.P89L|ENST00000434419,p.P89L|uc002qgx.3,p.P89L	protein_coding	uc010erw.1	nonsynonymous SNV	exon3	c.C266T	p.P89L	HDGVSKANFSIGPMMQDLAGTYRCY	HDGVSKANFSIGLMMQDLAGTYRCY	1.0	6.0	unscreened	-	1913_19:55253621-55253621 C>T_HDGVSKANFSIGLMMQDLAGTYRCY
19:48343173-48343173 G>A	0.0	1913	MELANOMA	-	-	-	-	CRX	NM_000554,p.M283I|uc002phq.4,p.M283I|ENST00000539067,p.M283I|ENST00000221996,p.M283I	protein_coding, processed_transcript, nonsense_mediated_decay	uc002phq.4	nonsynonymous SNV	exon4	c.G849A	p.M283I	DPTGTWKFTYNPMDPLDYKDQSAWK	DPTGTWKFTYNPIDPLDYKDQSAWK	1.0	6.0	unscreened	-	1913_19:48343173-48343173 G>A_DPTGTWKFTYNPIDPLDYKDQSAWK
7:8258122-8258122 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1193407;OCCURENCE=1(lung),2(liver)	-	ICA1	ENST00000407906,p.R131Q|uc003srq.4,p.R131Q|ENST00000422063,p.R131Q|uc003srs.2,p.R131Q|ENST00000339809,p.R131Q|uc010ktr.3,p.R131Q|uc003sro.5,p.R131Q|ENST00000265577,p.R130Q|uc003srm.3,p.R131Q|ENST00000406470,p.R131Q|uc003srn.5,p.R57Q|ENST00000401396,p.R119Q|uc003srr.4,p.R130Q|NM_022307,p.R131Q|ENST00000396675,p.R131Q|NM_001276478,p.R130Q|NM_001136020,p.R131Q|ENST00000317367,p.R119Q|NM_004968,p.R131Q|ENST00000402384,p.R131Q|ENST00000447326,p.R131Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ktr.3	nonsynonymous SNV	exon5	c.G392A	p.R131Q	ALCFSSQQRLALRNPLCRFHQEVET	ALCFSSQQRLALQNPLCRFHQEVET	1.0	6.0	unscreened	-	1913_7:8258122-8258122 C>T_ALCFSSQQRLALQNPLCRFHQEVET
14:31353829-31353829 G>A	0.0	1913	MELANOMA	-	-	-	-	COCH	uc001wqt.1,p.E41K|ENST00000382493,p.E41K	retained_intron, protein_coding, nonsense_mediated_decay	uc001wqt.1	nonsynonymous SNV	exon3	c.G121A	p.E41K	FTSAKDVLFAIKEVGFRGGNSNTDI	FTSAKDVLFAIKKVGFRGGNSNTDI	3.0	7.0	unscreened	-	1913_14:31353829-31353829 G>A_FTSAKDVLFAIKKVGFRGGNSNTDI
7:87035680-87035680 C>T	0.0	1913	MELANOMA	-	-	-	-	ABCB4	uc003uix.1,p.R1090Q|NM_018850,p.R1090Q|ENST00000265723,p.R1144Q|uc003uiv.1,p.R1144Q|ENST00000359206,p.R1137Q|NM_000443,p.R1137Q|uc003uiw.1,p.R1137Q|ENST00000453593,p.R1090Q|ENST00000545634,p.R1137Q|NM_018849,p.R1144Q|ENST00000358400,p.R1090Q	retained_intron, protein_coding	uc003uix.1	nonsynonymous SNV	exon25	c.G3269A	p.R1090Q	SIAENIAYGDNSRVVSQDEIVSAAK	SIAENIAYGDNSQVVSQDEIVSAAK	1.0	3.0	unscreened	-	1913_7:87035680-87035680 C>T_SIAENIAYGDNSQVVSQDEIVSAAK
5:110820012-110820012 G>A	0.0	1913	MELANOMA	-	-	-	-	CAMK4	uc003kpf.3,p.G424R|NM_001744,p.G424R|ENST00000512453,p.G424R|ENST00000282356,p.G424R|uc010jbv.3,p.G227R|uc003kpg.3,p.G115R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jbv.3	nonsynonymous SNV	exon9	c.G679A	p.G227R	EAPKMVPKAVEDGIKVADLELEEGL	EAPKMVPKAVEDRIKVADLELEEGL	1.0	9.0	unscreened	-	1913_5:110820012-110820012 G>A_EAPKMVPKAVEDRIKVADLELEEGL
2:130832650-130832650 C>T	0.0	1913	MELANOMA	-	-	ID=COSM715856;OCCURENCE=1(large_intestine),1(lung)	-	POTEF	NM_001099771,p.E799K|ENST00000357462,p.E799K|uc010fmh.2,p.E799K|ENST00000409914,p.E799K	protein_coding	uc010fmh.2	nonsynonymous SNV	exon17	c.G2395A	p.E799K	HHTFYNELRVAPEEHPVLLTEATLN	HHTFYNELRVAPKEHPVLLTEATLN	2.0	6.0	unscreened	-	1913_2:130832650-130832650 C>T_HHTFYNELRVAPKEHPVLLTEATLN
14:31353829-31353829 G>A	0.0	1913	MELANOMA	-	-	-	-	COCH	uc001wqp.2,p.E234K|ENST00000396618,p.E234K|NM_001135058,p.E234K|uc001wqr.2,p.E234K|ENST00000216361,p.E234K|ENST00000460581,p.E122K|ENST00000475087,p.E234K|NM_004086,p.E234K|uc001wqq.4,p.E234K|ENST00000555881,p.E116K	retained_intron, protein_coding, nonsense_mediated_decay	uc001wqr.2	nonsynonymous SNV	exon9	c.G700A	p.E234K	FTSAKDVLFAIKEVGFRGGNSNTGK	FTSAKDVLFAIKKVGFRGGNSNTGK	3.0	7.0	unscreened	-	1913_14:31353829-31353829 G>A_FTSAKDVLFAIKKVGFRGGNSNTGK
11:51412108-51412108 C>T	0.0	1913	MELANOMA	-	-	ID=COSM110266;OCCURENCE=1(skin)	-	OR4A5	NM_001005272,p.M96I|uc001nhi.2,p.M96I|ENST00000319760,p.M96I	protein_coding	uc001nhi.2	nonsynonymous SNV	exon1	c.G288A	p.M96I	FCDKKTISFQGCMGQLFIDHFFGGA	FCDKKTISFQGCIGQLFIDHFFGGA	1.0	3.0	unscreened	-	1913_11:51412108-51412108 C>T_FCDKKTISFQGCIGQLFIDHFFGGA
6:38820560-38820560 G>A	0.0	1913	MELANOMA	-	-	-	-	DNAH8	ENST00000359357,p.G1636R|uc003ooe.2,p.G1636R|ENST00000327475,p.G1841R|uc021yzh.1,p.G1853R|NM_001206927,p.G1853R|ENST00000449981,p.G1853R|ENST00000441566,p.G1636R	protein_coding	uc021yzh.1	nonsynonymous SNV	exon40	c.G5557A	p.G1853R	DYDRIMAVISREGEKIVLDNSVMAK	DYDRIMAVISREREKIVLDNSVMAK	1.0	4.0	unscreened	-	1913_6:38820560-38820560 G>A_DYDRIMAVISREREKIVLDNSVMAK
2:179655482-179655482 C>T	0.0	1913	MELANOMA	-	-	-	-	TTN	ENST00000591111,p.E585K|uc031rqc.1,p.E585K|ENST00000589042,p.E585K|ENST00000360870,p.E585K|uc002unb.3,p.E585K|NM_133378,p.E585K|NM_133379,p.E585K|ENST00000342992,p.E585K|NM_001256850,p.E585K|uc021vsy.2,p.E585K|NM_001267550,p.E585K|uc031rqd.1,p.E585K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon11	c.G1753A	p.E585K	KSTKLETVPGAQEETTTQQDQMHLS	KSTKLETVPGAQKETTTQQDQMHLS	2.0	4.0	unscreened	-	1913_2:179655482-179655482 C>T_KSTKLETVPGAQKETTTQQDQMHLS
X:140994863-140994863 C>T	0.0	1913	MELANOMA	-	-	-	-	MAGEC1	NM_005462,p.S558F|uc004fbt.3,p.S558F|uc022cfi.1,p.S217F|ENST00000285879,p.S558F	protein_coding	uc022cfi.1	nonsynonymous SNV	exon1	c.C650T	p.S217F	HYFPQSPPQGEDSLSPHYFPQSPPQ	HYFPQSPPQGEDFLSPHYFPQSPPQ	1.0	9.0	unscreened	-	1913_X:140994863-140994863 C>T_HYFPQSPPQGEDFLSPHYFPQSPPQ
11:108382315-108382315 C>T	0.0	1913	MELANOMA	-	-	-	-	EXPH5	uc010rvz.2,p.G1151R|ENST00000265843,p.G1307R|ENST00000526312,p.G1231R|ENST00000443411,p.G1119R|ENST00000428840,p.G1231R|NM_015065,p.G1307R|uc010rvy.2,p.G1119R|uc001pkk.3,p.G1307R|ENST00000525344,p.G1300R|ENST00000533052,p.G1119R	protein_coding, processed_transcript	uc010rvz.2	nonsynonymous SNV	exon4	c.G3451A	p.G1151R	KDKQNYSTREQSGTPSCENLKMSVN	KDKQNYSTREQSRTPSCENLKMSVN	1.0	9.0	unscreened	-	1913_11:108382315-108382315 C>T_KDKQNYSTREQSRTPSCENLKMSVN
2:233246248-233246248 G>A	0.0	1913	MELANOMA	-	-	-	-	ALPP	uc002vsq.3,p.E451K|NM_001632,p.E451K|ENST00000392027,p.E451K	retained_intron, protein_coding	uc002vsq.3	nonsynonymous SNV	exon11	c.G1351A	p.E451K	PEYRQQSAVPLDEETHAGEDVAVFA	PEYRQQSAVPLDKETHAGEDVAVFA	1.0	3.0	unscreened	-	1913_2:233246248-233246248 G>A_PEYRQQSAVPLDKETHAGEDVAVFA
3:107096999-107096999 G>A	0.0	1913	MELANOMA	-	-	-	-	CCDC54	ENST00000261058,p.E189K|NM_032600,p.E189K|uc003dwi.1,p.E189K	protein_coding	uc003dwi.1	nonsynonymous SNV	exon1	c.G565A	p.E189K	ATLKNTLASTDMEISSAEPEKVPSY	ATLKNTLASTDMKISSAEPEKVPSY	1.0	8.0	unscreened	-	1913_3:107096999-107096999 G>A_ATLKNTLASTDMKISSAEPEKVPSY
19:51920336-51920336 C>T	0.0	1913	MELANOMA	-	-	-	-	SIGLEC10	ENST00000525998,p.A141T|ENST00000339313,p.A141T|NM_033130,p.A141T|uc002pwr.3,p.A141T|uc002pwo.3,p.A141T|ENST00000353836,p.A141T|NM_001171157,p.A141T|ENST00000530476,p.A108T|uc010ycy.2,p.A141T|ENST00000356298,p.A141T	retained_intron, protein_coding	uc010ycy.2	nonsynonymous SNV	exon2	c.G421A	p.A141T	NFMNDGFFLKVTALTQKPDVYIPET	NFMNDGFFLKVTTLTQKPDVYIPET	3.0	7.0	unscreened	-	1913_19:51920336-51920336 C>T_NFMNDGFFLKVTTLTQKPDVYIPET
5:145442149-145442149 G>A	0.0	1913	MELANOMA	0.0009	-	-	-	SH3RF2	uc003lnu.3,p.R183Q|uc011dbo.2,p.R149Q|ENST00000359120,p.R692Q|uc011dbl.1,p.R692Q|NM_152550,p.R692Q|ENST00000511217,p.R692Q|uc011dbn.1,p.R183Q|uc003lnt.3,p.R692Q	retained_intron, protein_coding, processed_transcript	uc011dbo.2	nonsynonymous SNV	exon2	c.G446A	p.R149Q	SLGPEMTVLFAHRSGCHSGQQTDLR	SLGPEMTVLFAHQSGCHSGQQTDLR	1.0	1.0	unscreened	-	1913_5:145442149-145442149 G>A_SLGPEMTVLFAHQSGCHSGQQTDLR
12:80714388-80714388 G>A	0.0	1913	MELANOMA	-	-	-	-	OTOGL	NM_173591,p.G1321D|uc001szd.3,p.G1321D|ENST00000547103,p.G1321D|ENST00000458043,p.G1321D	protein_coding, nonsense_mediated_decay	uc001szd.3	nonsynonymous SNV	exon33	c.G3962A	p.G1321D	PGYSAFELYSKKGFFIIFTDSSVKA	PGYSAFELYSKKDFFIIFTDSSVKA	2.0	9.0	unscreened	-	1913_12:80714388-80714388 G>A_PGYSAFELYSKKDFFIIFTDSSVKA
5:145379738-145379738 G>A	0.0	1913	MELANOMA	-	-	-	-	SH3RF2	ENST00000511217,p.E166K|NM_152550,p.E166K|uc003lnt.3,p.E166K|ENST00000359120,p.E166K|uc011dbl.1,p.E166K	retained_intron, protein_coding, processed_transcript	uc011dbl.1	nonsynonymous SNV	exon2	c.G496A	p.E166K	LRRQLDENWYQGEINGISGNFPASS	LRRQLDENWYQGKINGISGNFPASS	1.0	2.0	unscreened	-	1913_5:145379738-145379738 G>A_LRRQLDENWYQGKINGISGNFPASS
11:27679495-27679495 G>A	0.0	1913	MELANOMA	-	-	-	-	BDNF	uc010rdx.2,p.S206F|uc009yje.3,p.S288F|NM_170733,p.S206F|NM_001143816,p.S206F|ENST00000395980,p.S206F|ENST00000395978,p.S206F|uc001mrw.4,p.S206F|uc001mru.3,p.S206F|NM_001143807,p.S206F|ENST00000532997,p.S206F|uc010rdw.2,p.S206F|NM_001143809,p.S235F|ENST00000356660,p.S206F|uc001mrt.3,p.S221F|ENST00000418212,p.S206F|uc009yjd.3,p.S206F|NM_001143811,p.S206F|ENST00000438929,p.S288F|ENST00000395986,p.S221F|NM_170734,p.S221F|NM_001143814,p.S206F|NM_001143805,p.S206F|uc010rdy.2,p.S206F|ENST00000395983,p.S206F|uc010rdu.2,p.S206F|NM_001143813,p.S206F|uc001msa.3,p.S214F|NM_001143808,p.S206F|uc021qff.1,p.S206F|ENST00000530861,p.S206F|uc009yjg.3,p.S206F|uc001mrv.3,p.S206F|NM_170735,p.S206F|NM_170731,p.S214F|uc009yjf.3,p.S235F|ENST00000525528,p.S206F|ENST00000533131,p.S206F|ENST00000420794,p.S206F|ENST00000314915,p.S214F|ENST00000525950,p.S206F|uc001mrx.3,p.S206F|uc001mry.4,p.S206F|NM_001709,p.S206F|ENST00000439476,p.S206F|ENST00000395981,p.S206F|NM_001143810,p.S288F|NM_001143812,p.S206F|ENST00000533246,p.S206F|NM_001143806,p.S206F|uc001mrz.4,p.S206F|NM_170732,p.S206F	protein_coding, processed_transcript, nonsense_mediated_decay	uc021qff.1	nonsynonymous SNV	exon1	c.C617T	p.S206F	EGCRGIDKRHWNSQCRTTQSYVRAL	EGCRGIDKRHWNFQCRTTQSYVRAL	2.0	2.0	unscreened	-	1913_11:27679495-27679495 G>A_EGCRGIDKRHWNFQCRTTQSYVRAL
19:51920336-51920336 C>T	0.0	1913	MELANOMA	-	-	-	-	SIGLEC10	ENST00000432469,p.A141T	retained_intron, protein_coding	ENST00000432469	nonsynonymous SNV	exon2	c.G421A	p.A141T	NFMNDGFFLKVTALTQKTVRLRVAY	NFMNDGFFLKVTTLTQKTVRLRVAY	3.0	7.0	unscreened	-	1913_19:51920336-51920336 C>T_NFMNDGFFLKVTTLTQKTVRLRVAY
14:92347670-92347670 G>A	0.0	1913	MELANOMA	-	-	-	-	FBLN5	uc010aud.3,p.R324C|NM_006329,p.R319C|ENST00000342058,p.R319C|ENST00000556154,p.R324C|ENST00000267620,p.R360C|uc001xzx.4,p.R319C|uc010aue.3,p.R360C	protein_coding, processed_transcript, nonsense_mediated_decay	uc010aue.3	nonsynonymous SNV	exon10	c.C1078T	p.R360C	NLQGGFKCIDPIRCEEPYLRISDNR	NLQGGFKCIDPICCEEPYLRISDNR	1.0	5.0	unscreened	-	1913_14:92347670-92347670 G>A_NLQGGFKCIDPICCEEPYLRISDNR
3:16217037-16217037 G>A	1.0	1913	MELANOMA	-	-	-	-	GALNT15	NM_054110,p.D127N|uc003car.4,p.D127N|ENST00000339732,p.D127N|ENST00000437509,p.D127N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003car.4	nonsynonymous SNV	exon1	c.G379A	p.D127N	GSYRLIKQPRRQDKEAPKRDWGADE	GSYRLIKQPRRQNKEAPKRDWGADE	5.0	8.0	unscreened	-	1913_3:16217037-16217037 G>A_GSYRLIKQPRRQNKEAPKRDWGADE
11:7817616-7817616 C>T	0.0	1913	MELANOMA	-	-	-	-	OR5P2	ENST00000329434,p.E292K|NM_153444,p.E292K|uc001mfp.1,p.E292K	protein_coding	uc001mfp.1	nonsynonymous SNV	exon1	c.G874A	p.E292K	MLNPLIYSLRNKEIKGALKRELVRK	MLNPLIYSLRNKKIKGALKRELVRK	1.0	9.0	unscreened	-	1913_11:7817616-7817616 C>T_MLNPLIYSLRNKKIKGALKRELVRK
10:46999473-46999473 C>T	0.0	1913	MELANOMA	-	-	-	-	GPRIN2	ENST00000374317,p.P198L|uc001jec.3,p.P198L|NM_014696,p.P198L|ENST00000374314,p.P198L|uc021ppt.1,p.P198L	protein_coding	uc021ppt.1	nonsynonymous SNV	exon1	c.C593T	p.P198L	AWMLGASQLSVPPLDLGDTTAHSSS	AWMLGASQLSVPLLDLGDTTAHSSS	1.0	2.0	unscreened	-	1913_10:46999473-46999473 C>T_AWMLGASQLSVPLLDLGDTTAHSSS
21:36081024-36081024 C>T	0.0	1913	MELANOMA	0.0009	-	-	-	CLIC6	uc010gmt.1,p.P564L|NM_053277,p.P546L|ENST00000349499,p.P546L|uc002yuf.1,p.P546L|ENST00000360731,p.P564L	protein_coding	uc010gmt.1	nonsynonymous SNV	exon5	c.C1691T	p.P564L	APPRYPKLGTQHPESNSAGNDVFAK	APPRYPKLGTQHLESNSAGNDVFAK	1.0	3.0	unscreened	-	1913_21:36081024-36081024 C>T_APPRYPKLGTQHLESNSAGNDVFAK
15:65040624-65040624 G>C	0.0	1913	MELANOMA	-	-	-	-	RBPMS2	ENST00000300069,p.H187Q|uc002anq.3,p.H187Q|ENST00000560606,p.H76Q|NM_194272,p.H187Q	protein_coding	uc002anq.3	nonsynonymous SNV	exon6	c.C561G	p.H187Q	TYPTATAAAAALHAQVRWYPSSDTT	TYPTATAAAAALQAQVRWYPSSDTT	1.0	9.0	unscreened	-	1913_15:65040624-65040624 G>C_TYPTATAAAAALQAQVRWYPSSDTT
1:175324709-175324709 G>A	0.0	1913	MELANOMA	-	-	-	-	TNR	uc001gkp.1,p.S1060F|ENST00000263525,p.S1060F|ENST00000367674,p.S1060F|uc009wwu.1,p.S1060F|NM_003285,p.S1060F	protein_coding	uc009wwu.1	nonsynonymous SNV	exon17	c.C3179T	p.S1060F	TASEVTRQSALISWQPPRAEIENYV	TASEVTRQSALIFWQPPRAEIENYV	1.0	3.0	unscreened	-	1913_1:175324709-175324709 G>A_TASEVTRQSALIFWQPPRAEIENYV
17:71166557-71166557 A>G	0.0	1913	MELANOMA	-	-	-	-	SSTR2	uc002jje.3,p.T367A|NM_001050,p.T367A|ENST00000357585,p.T367A|uc021ucm.1,p.T367A	protein_coding, processed_transcript	uc021ucm.1	nonsynonymous SNV	exon1	c.A1099G	p.T367A	ETQRTLLNGDLQTSI	ETQRTLLNGDLQASI	3.0	4.0	unscreened	-	1913_17:71166557-71166557 A>G_ETQRTLLNGDLQASI
2:213886851-213886851 C>A	0.0	1913	MELANOMA	-	-	-	-	IKZF2	uc010fuu.3,p.G48V|ENST00000374327,p.G48V	retained_intron, protein_coding, nonsense_mediated_decay	uc010fuu.3	nonsynonymous SNV	exon3	c.G143T	p.G48V	GQHASPSHMTSMGKPHKCNYCGRSY	GQHASPSHMTSMVKPHKCNYCGRSY	3.0	6.0	unscreened	-	1913_2:213886851-213886851 C>A_GQHASPSHMTSMVKPHKCNYCGRSY
9:133589744-133589744 G>A	1.0	1913	MELANOMA	-	-	-	1	ABL1	ENST00000393293,p.R13K|ENST00000372348,p.R13K|NM_007313,p.R13K|uc004bzv.3,p.R13K	protein_coding	uc004bzv.3	nonsynonymous SNV	exon1	c.G38A	p.R13K	MGQQPGKVLGDQRRPSLPALHFIKG	MGQQPGKVLGDQKRPSLPALHFIKG	8.0	7.0	unscreened	-	1913_9:133589744-133589744 G>A_MGQQPGKVLGDQKRPSLPALHFIKG
2:179669311-179669311 C>T	0.0	1913	MELANOMA	-	-	-	-	TTN	NM_133437,p.G20D|NM_001267550,p.G20D|ENST00000342175,p.G20D|NM_133432,p.G20D|NM_133378,p.G20D|ENST00000412264,p.G20D|ENST00000589042,p.G20D|uc031rqc.1,p.G20D|ENST00000359218,p.G20D|uc021vta.2,p.G20D|uc021vsy.2,p.G20D|ENST00000342992,p.G20D|NM_133379,p.G20D|ENST00000360870,p.G20D|NM_001256850,p.G20D|uc002unb.3,p.G20D|uc021vsz.2,p.G20D|ENST00000591111,p.G20D|ENST00000460472,p.G20D|uc021vtb.2,p.G20D|NM_003319,p.G20D|uc002und.3,p.G20D|uc031rqd.1,p.G20D	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon2	c.G59A	p.G20D	FTQPLQSVVVLEGSTATFEAHISGF	FTQPLQSVVVLEDSTATFEAHISGF	2.0	3.0	unscreened	-	1913_2:179669311-179669311 C>T_FTQPLQSVVVLEDSTATFEAHISGF
3:134898711-134898711 G>A	0.0	1913	MELANOMA	-	-	-	-	EPHB1	uc003equ.3,p.G151E|ENST00000398015,p.G590E|uc003eqt.3,p.G590E|ENST00000493838,p.G151E|NM_004441,p.G590E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003equ.3	nonsynonymous SNV	exon8	c.G452A	p.G151E	KLQHYSTGRGSPGMKIYIDPFTYED	KLQHYSTGRGSPEMKIYIDPFTYED	3.0	2.0	unscreened	-	1913_3:134898711-134898711 G>A_KLQHYSTGRGSPEMKIYIDPFTYED
17:60464747-60464747 G>A	0.0	1913	MELANOMA	-	-	-	-	EFCAB3	ENST00000520404,p.E41K|NM_173503,p.E41K|uc010wpc.2,p.E93K|uc002izu.2,p.E41K|ENST00000305286,p.E41K|ENST00000450662,p.E93K|NM_001144933,p.E93K|ENST00000518576,p.E41K	protein_coding	uc010wpc.2	nonsynonymous SNV	exon5	c.G277A	p.E93K	LPGSLQCQLQHKEKKLSASQMAAFQ	LPGSLQCQLQHKKKKLSASQMAAFQ	1.0	6.0	unscreened	-	1913_17:60464747-60464747 G>A_LPGSLQCQLQHKKKKLSASQMAAFQ
14:96703495-96703495 C>T	0.0	1913	MELANOMA	-	-	ID=COSM3356722;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	BDKRB2	uc010avl.2,p.P77L	protein_coding, processed_transcript	uc010avl.2	nonsynonymous SNV	exon2	c.C230T	p.P77L	GRYQCFCLFVRTPCPPRPLSGAAYD	GRYQCFCLFVRTLCPPRPLSGAAYD	1.0	7.0	unscreened	-	1913_14:96703495-96703495 C>T_GRYQCFCLFVRTLCPPRPLSGAAYD
3:186395032-186395032 C>T	0.0	1913	MELANOMA	-	-	-	-	HRG	ENST00000232003,p.P313L|uc003fqq.3,p.P313L|NM_000412,p.P313L	retained_intron, protein_coding, processed_transcript	uc003fqq.3	nonsynonymous SNV	exon7	c.C938T	p.P313L	PDERDHSHGPPLPQGPPPLLPMSCS	PDERDHSHGPPLLQGPPPLLPMSCS	1.0	8.0	unscreened	-	1913_3:186395032-186395032 C>T_PDERDHSHGPPLLQGPPPLLPMSCS
10:24833156-24833156 T>C	0.0	1913	MELANOMA	-	-	-	-	KIAA1217	ENST00000376454,p.S1653P|uc001isa.1,p.S489P|uc001irx.3,p.S1336P|NM_019590,p.S1653P|uc001iru.4,p.S1653P|ENST00000376451,p.S1336P	retained_intron, protein_coding, processed_transcript	uc001isa.1	nonsynonymous SNV	exon2	c.T1465C	p.S489P	QEQPSIESTSPISRTDEIRKNTYRT	QEQPSIESTSPIPRTDEIRKNTYRT	1.0	6.0	unscreened	-	1913_10:24833156-24833156 T>C_QEQPSIESTSPIPRTDEIRKNTYRT
11:18735959-18735959 C>T	0.0	1913	MELANOMA	-	-	-	-	IGSF22	ENST00000319338,p.D555N|NM_173588,p.D555N|ENST00000513874,p.D555N|uc009yht.2,p.D555N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009yht.2	nonsynonymous SNV	exon13	c.G1663A	p.D555N	EGVWLKDGKEITDLPGMQIVKQGAV	EGVWLKDGKEITNLPGMQIVKQGAV	1.0	8.0	unscreened	-	1913_11:18735959-18735959 C>T_EGVWLKDGKEITNLPGMQIVKQGAV
1:156849128-156849128 G>A	0.0	1913	MELANOMA	-	-	-	1	NTRK1	uc009wsk.1,p.D671N|ENST00000392302,p.D638N|ENST00000368196,p.D668N|uc009wsi.1,p.D373N|uc001fqi.1,p.D668N|NM_002529,p.D674N|NM_001007792,p.D638N|ENST00000524377,p.D674N|uc001fqf.1,p.D638N|uc001fqh.1,p.D674N|NM_001012331,p.D668N|ENST00000358660,p.D671N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009wsk.1	nonsynonymous SNV	exon14	c.G2011A	p.D671N	LVVKIGDFGMSRDIYSTDYYRVGGR	LVVKIGDFGMSRNIYSTDYYRVGGR	1.0	8.0	unscreened	-	1913_1:156849128-156849128 G>A_LVVKIGDFGMSRNIYSTDYYRVGGR
1:27278723-27278723 G>A	0.0	1913	MELANOMA	-	-	-	-	KDF1	uc001bni.2,p.P50L|NM_152365,p.P50L|ENST00000320567,p.P50L	protein_coding	uc001bni.2	nonsynonymous SNV	exon2	c.C149T	p.P50L	PSRRTRRPDPKDPGHHGPESITFIS	PSRRTRRPDPKDLGHHGPESITFIS	1.0	1.0	unscreened	-	1913_1:27278723-27278723 G>A_PSRRTRRPDPKDLGHHGPESITFIS
18:28737342-28737342 C>T	0.0	1913	MELANOMA	-	-	-	-	DSC1	NM_004948,p.E115K|uc002kwm.3,p.E115K|uc002kwn.3,p.E115K|ENST00000257198,p.E115K|NM_024421,p.E115K|ENST00000257197,p.E115K	protein_coding	uc002kwn.3	nonsynonymous SNV	exon3	c.G343A	p.E115K	EQQEIKVVLSARENKSPKKRHTKDT	EQQEIKVVLSARKNKSPKKRHTKDT	1.0	9.0	unscreened	-	1913_18:28737342-28737342 C>T_EQQEIKVVLSARKNKSPKKRHTKDT
6:15501407-15501407 G>A	1.0	1913	MELANOMA	-	-	-	-	JARID2	NM_001267040,p.G567S|ENST00000341776,p.G739S|ENST00000397311,p.G567S|uc011diw.1,p.G701S|uc003nbj.4,p.G739S|uc011div.3,p.G567S|ENST00000541660,p.G701S|NM_004973,p.G739S	protein_coding, processed_transcript	uc011diw.1	nonsynonymous SNV	exon7	c.G2101A	p.G701S	KEILEKRKGPLEGHTENDHHKFHPL	KEILEKRKGPLESHTENDHHKFHPL	7.0	9.0	unscreened	-	1913_6:15501407-15501407 G>A_KEILEKRKGPLESHTENDHHKFHPL
5:178410215-178410215 C>T	0.0	1913	MELANOMA	-	-	-	-	GRM6	ENST00000231188,p.G711E|ENST00000517717,p.G711E|NM_000843,p.G711E|uc003mjr.3,p.G711E	retained_intron, protein_coding, processed_transcript	uc003mjr.3	nonsynonymous SNV	exon9	c.G2132A	p.G711E	VITFSLTSLQVVGMIAWLGARPPHS	VITFSLTSLQVVEMIAWLGARPPHS	1.0	7.0	unscreened	-	1913_5:178410215-178410215 C>T_VITFSLTSLQVVEMIAWLGARPPHS
3:48613846-48613846 G>A	1.0	1913	MELANOMA	-	-	-	-	COL7A1	ENST00000454817,p.S1888F|ENST00000328333,p.S1920F|NM_000094,p.S1920F|uc003ctz.2,p.S1920F	retained_intron, protein_coding, processed_transcript	uc003ctz.2	nonsynonymous SNV	exon69	c.C5759T	p.S1920F	GTGPKGDRGETGSKGEQGLPGERGL	GTGPKGDRGETGFKGEQGLPGERGL	9.0	7.0	unscreened	-	1913_3:48613846-48613846 G>A_GTGPKGDRGETGFKGEQGLPGERGL
17:54926568-54926568 G>A	0.0	1913	MELANOMA	-	-	-	-	DGKE	NM_003647,p.G358E|uc002ius.1,p.G358E|uc002iur.3,p.G358E|ENST00000284061,p.G358E	retained_intron, protein_coding, processed_transcript	uc002ius.1	nonsynonymous SNV	exon6	c.G1073A	p.G358E	KLDRWKVQVTNKGYYNLRKPKEFTM	KLDRWKVQVTNKEYYNLRKPKEFTM	1.0	4.0	unscreened	-	1913_17:54926568-54926568 G>A_KLDRWKVQVTNKEYYNLRKPKEFTM
6:7585860-7585860 A>C	0.0	1913	MELANOMA	-	-	-	-	DSP	NM_004415,p.I2789L|ENST00000379802,p.I2789L|uc003mxq.1,p.I2190L|uc021yle.1,p.I2346L|NM_001008844,p.I2190L|ENST00000418664,p.I2190L|uc003mxp.1,p.I2789L	retained_intron, protein_coding	uc021yle.1	nonsynonymous SNV	exon24	c.A7036C	p.I2346L	PKTKLKISYKDAINRSMVEDITGLR	PKTKLKISYKDALNRSMVEDITGLR	1.0	4.0	unscreened	-	1913_6:7585860-7585860 A>C_PKTKLKISYKDALNRSMVEDITGLR
1:157665164-157665164 C>T	0.0	1913	MELANOMA	-	-	-	-	FCRL3	uc001frb.3,p.G456S|NM_052939,p.G456S|uc001fra.3,p.G182S|ENST00000492769,p.G462S|ENST00000485028,p.G456S|ENST00000368184,p.G456S|ENST00000477837,p.G361S|uc001fqz.4,p.G456S|uc001frc.1,p.G456S|ENST00000368186,p.G456S	protein_coding, processed_transcript, nonsense_mediated_decay	uc001frc.1	nonsynonymous SNV	exon8	c.G1366A	p.G456S	EHSGNYSCDADNGLGAQHSHGVSLR	EHSGNYSCDADNSLGAQHSHGVSLR	1.0	9.0	unscreened	-	1913_1:157665164-157665164 C>T_EHSGNYSCDADNSLGAQHSHGVSLR
12:6436982-6436982 G>A	0.0	1913	MELANOMA	-	-	-	-	PLEKHG6	NM_018173,p.E745K|ENST00000396988,p.E745K|ENST00000304581,p.E275K|uc010sex.2,p.E713K|uc001qnr.3,p.E745K|NM_001144857,p.E713K|NM_001144856,p.E745K|uc010sew.2,p.E745K|ENST00000011684,p.E745K|ENST00000449001,p.E713K	protein_coding, processed_transcript	uc010sex.2	nonsynonymous SNV	exon14	c.G2137A	p.E713K	MRAEDMLREIREELASQRIEGAEEP	MRAEDMLREIREKLASQRIEGAEEP	3.0	9.0	unscreened	-	1913_12:6436982-6436982 G>A_MRAEDMLREIREKLASQRIEGAEEP
6:27799022-27799022 C>T	0.0	1913	MELANOMA	-	-	-	-	HIST1H4K	ENST00000357549,p.G95D|uc003njr.3,p.G95D|NM_003541,p.G95D	protein_coding	uc003njr.3	nonsynonymous SNV	exon1	c.G284A	p.G95D	TAMDVVYALKRQGRTLYGFGG	TAMDVVYALKRQDRTLYGFGG	3.0	8.0	unscreened	-	1913_6:27799022-27799022 C>T_TAMDVVYALKRQDRTLYGFGG
5:140346853-140346853 C>T	0.0	1913	MELANOMA	-	-	-	-	PCDHAC2	ENST00000289269,p.H168Y|uc011dag.2,p.H168Y|uc003lii.3,p.H168Y|NM_031883,p.H168Y|NM_018899,p.H168Y	protein_coding	uc011dag.2	nonsynonymous SNV	exon1	c.C502T	p.H168Y	QVSESVAPGARFHIESAQDPDVGAN	QVSESVAPGARFYIESAQDPDVGAN	1.0	8.0	unscreened	-	1913_5:140346853-140346853 C>T_QVSESVAPGARFYIESAQDPDVGAN
15:56032838-56032838 C>T	0.0	1913	MELANOMA	-	-	-	-	PRTG	NM_173814,p.D47N|uc002adg.3,p.D47N|ENST00000561292,p.D47N|ENST00000389286,p.D47N	retained_intron, protein_coding, TEC	uc002adg.3	nonsynonymous SNV	exon2	c.G139A	p.D47N	CFSELSFVKEPQDVTVTRKDPVVLD	CFSELSFVKEPQNVTVTRKDPVVLD	2.0	9.0	unscreened	-	1913_15:56032838-56032838 C>T_CFSELSFVKEPQNVTVTRKDPVVLD
11:55798831-55798831 G>A	0.0	1913	MELANOMA	-	-	ID=COSM192138;OCCURENCE=1(large_intestine)	-	OR5AS1	ENST00000313555,p.E313K|NM_001001921,p.E313K|uc010riw.2,p.E313K	protein_coding	uc010riw.2	nonsynonymous SNV	exon1	c.G937A	p.E313K	LKKLLERIGYSNEWYLNRLRIVNI	LKKLLERIGYSNKWYLNRLRIVNI	1.0	2.0	unscreened	-	1913_11:55798831-55798831 G>A_LKKLLERIGYSNKWYLNRLRIVNI
6:41165928-41165928 C>T	0.0	1913	MELANOMA	-	-	-	-	TREML2	uc010jxm.1,p.D99N|ENST00000483722,p.D99N|NM_024807,p.D99N	protein_coding	uc010jxm.1	nonsynonymous SNV	exon2	c.G295A	p.D99N	VVNITMVALKLQDSGRYWCMRNTSG	VVNITMVALKLQNSGRYWCMRNTSG	2.0	2.0	unscreened	-	1913_6:41165928-41165928 C>T_VVNITMVALKLQNSGRYWCMRNTSG
X:107430455-107430455 C>T	0.0	1913	MELANOMA	-	-	-	-	COL4A6	uc004enw.4,p.E609K|ENST00000545689,p.E608K|NM_001287759,p.E608K|NM_033641,p.E608K|NM_001287758,p.E608K|ENST00000394872,p.E609K|NM_001847,p.E609K|uc004env.4,p.E608K|NM_001287760,p.E608K|ENST00000538570,p.E608K|ENST00000334504,p.E608K|uc010npk.3,p.E608K|uc011msn.2,p.E608K|ENST00000372216,p.E609K	retained_intron, protein_coding, processed_transcript	uc011msn.2	nonsynonymous SNV	exon23	c.G1822A	p.E608K	FPGEKGLPGLPGEKGHPGPPGLPGN	FPGEKGLPGLPGKKGHPGPPGLPGN	1.0	9.0	unscreened	-	1913_X:107430455-107430455 C>T_FPGEKGLPGLPGKKGHPGPPGLPGN
17:39279825-39279825 T>C	0.0	1913	MELANOMA	-	-	-	-	KRTAP4-12	NM_031854,p.T184A|ENST00000394014,p.T184A|uc002hwa.3,p.T184A	protein_coding	uc002hwa.3	nonsynonymous SNV	exon1	c.A550G	p.T184A	GRVSCHTTCYRPTCVISTCPRPLCC	GRVSCHTTCYRPACVISTCPRPLCC	1.0	9.0	unscreened	-	1913_17:39279825-39279825 T>C_GRVSCHTTCYRPACVISTCPRPLCC
9:78749080-78749080 G>A	1.0	1913	MELANOMA	-	-	-	-	PCSK5	uc004ajz.3,p.G422R|ENST00000424854,p.G95R|uc004ajy.2,p.G422R|ENST00000376767,p.G422R|NM_001190482,p.G422R|NM_006200,p.G422R|ENST00000545128,p.G422R|ENST00000376752,p.G422R|uc004akc.2,p.G422R	protein_coding	uc004akc.2	nonsynonymous SNV	exon10	c.G1264A	p.G422R	DVQHVIVRTSRAGHLNANDWKTNAA	DVQHVIVRTSRARHLNANDWKTNAA	3.0	3.0	unscreened	-	1913_9:78749080-78749080 G>A_DVQHVIVRTSRARHLNANDWKTNAA
3:48423575-48423575 G>A	0.0	1913	MELANOMA	-	-	-	-	FBXW12	ENST00000296438,p.S432N|uc010hjw.3,p.S331N|NM_207102,p.S432N|NM_001159927,p.S362N|ENST00000436231,p.S275N|uc010hjv.3,p.S413N|NM_001159929,p.S413N|ENST00000415155,p.S362N|uc003csr.3,p.S432N|uc003css.3,p.S362N|ENST00000445170,p.S413N	retained_intron, protein_coding, processed_transcript	uc010hjw.3	nonsynonymous SNV	exon7	c.G992A	p.S331N	HLENTWHDHTTDSCISSVMCDNASI	HLENTWHDHTTDNCISSVMCDNASI	1.0	9.0	unscreened	-	1913_3:48423575-48423575 G>A_HLENTWHDHTTDNCISSVMCDNASI
7:142567618-142567618 G>A	0.0	1913	MELANOMA	-	-	-	-	EPHB6	uc003wbs.3,p.G544R|uc003wbu.3,p.G544R|uc003wbt.3,p.G310R|uc003wbv.3,p.G220R|uc011kst.2,p.G836R|NM_001280794,p.G544R|ENST00000411471,p.G559R|ENST00000442129,p.G836R|ENST00000392957,p.G836R|uc011ksu.2,p.G836R|NM_001280795,p.G544R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ksu.2	nonsynonymous SNV	exon17	c.G2506A	p.G836R	LLRWAAPEVIAHGKHTTSSDVWSFG	LLRWAAPEVIAHRKHTTSSDVWSFG	1.0	5.0	unscreened	-	1913_7:142567618-142567618 G>A_LLRWAAPEVIAHRKHTTSSDVWSFG
9:131038500-131038500 C>T	0.0	1913	MELANOMA	-	-	-	-	SWI5	NM_001040011,p.R26W|uc010mxx.1,p.R26W|ENST00000320188,p.R26W|uc004bup.3,p.R26W	retained_intron, protein_coding	uc010mxx.1	nonsynonymous SNV	exon1	c.C76T	p.R26W	KSCARNRCPRPPRERGGAGFPWVRA	KSCARNRCPRPPWERGGAGFPWVRA	9.0	7.0	unscreened	-	1913_9:131038500-131038500 C>T_KSCARNRCPRPPWERGGAGFPWVRA
9:122075443-122075443 C>T	0.0	1913	MELANOMA	-	-	-	-	BRINP1	uc004bkd.2,p.G64E|ENST00000265922,p.G64E|NM_014618,p.G64E|uc004bkc.2,p.G64E|ENST00000373964,p.G64E	protein_coding, processed_transcript	uc004bkd.2	nonsynonymous SNV	exon2	c.G191A	p.G64E	RSYLSFVERHRQGFTTRYKIYREFA	RSYLSFVERHRQEFTTRYKIYREFA	1.0	8.0	unscreened	-	1913_9:122075443-122075443 C>T_RSYLSFVERHRQEFTTRYKIYREFA
19:15079255-15079255 C>T	0.0	1913	MELANOMA	-	-	-	-	SLC1A6	ENST00000599636,p.G141S	retained_intron, protein_coding	ENST00000599636	nonsynonymous SNV	exon4	c.G421A	p.G141S	GADGDAGSCVLHGDHHHR	GADGDAGSCVLHSDHHHR	1.0	2.0	unscreened	-	1913_19:15079255-15079255 C>T_GADGDAGSCVLHSDHHHR
19:22941497-22941497 G>A	0.0	1913	MELANOMA	-	-	-	-	ZNF99	NM_001080409,p.A405V|ENST00000397104,p.A314V|ENST00000596209,p.A405V|uc021urt.1,p.A405V	protein_coding	uc021urt.1	nonsynonymous SNV	exon4	c.C1214T	p.A405V	GQKPYKCEECGKAFKWSSKLTVHKV	GQKPYKCEECGKVFKWSSKLTVHKV	1.0	7.0	unscreened	-	1913_19:22941497-22941497 G>A_GQKPYKCEECGKVFKWSSKLTVHKV
18:14543091-14543091 C>T	0.0	1913	MELANOMA	-	-	-	-	POTEC	ENST00000358970,p.D19N|ENST00000511306,p.D19N|NM_001137671,p.D19N|uc010dln.3,p.D19N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dln.3	nonsynonymous SNV	exon1	c.G55A	p.D19N	SMPAASAVKKPFDLRSKMGKWFHHR	SMPAASAVKKPFNLRSKMGKWFHHR	1.0	9.0	unscreened	-	1913_18:14543091-14543091 C>T_SMPAASAVKKPFNLRSKMGKWFHHR
8:144803964-144803964 C>A	0.0	1913	MELANOMA	-	-	-	-	MAPK15	NM_139021,p.Q458K|uc003yzj.3,p.Q458K|ENST00000338033,p.Q458K	retained_intron, protein_coding	uc003yzj.3	nonsynonymous SNV	exon13	c.C1372A	p.Q458K	PSGRGAAPSLTSQAAAQVANQALIR	PSGRGAAPSLTSKAAAQVANQALIR	1.0	6.0	unscreened	-	1913_8:144803964-144803964 C>A_PSGRGAAPSLTSKAAAQVANQALIR
6:43181547-43181547 G>C	1.0	1913	MELANOMA	-	-	-	-	CUL9	ENST00000354495,p.G1752A|ENST00000252050,p.G1862A|uc003ouk.3,p.G1862A|NM_015089,p.G1862A|uc010jyk.3,p.G1014A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jyk.3	nonsynonymous SNV	exon28	c.G3041C	p.G1014A	PPQAYLNVEKDEGRTLEQKRNLLSC	PPQAYLNVEKDEARTLEQKRNLLSC	7.0	2.0	unscreened	-	1913_6:43181547-43181547 G>C_PPQAYLNVEKDEARTLEQKRNLLSC
7:126249460-126249460 C>T	0.0	1913	MELANOMA	-	-	-	-	GRM8	ENST00000444921,p.E484K|ENST00000358373,p.E484K|ENST00000339582,p.E484K|ENST00000472701,p.E484K|NM_001127323,p.E484K|uc003vlr.2,p.E484K|NM_000845,p.E484K|uc003vlt.2,p.E484K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003vlt.2	nonsynonymous SNV	exon8	c.G1450A	p.E484K	DIFQYQITNKSTEYKVIGHWTNQLH	DIFQYQITNKSTKYKVIGHWTNQLH	3.0	5.0	unscreened	-	1913_7:126249460-126249460 C>T_DIFQYQITNKSTKYKVIGHWTNQLH
9:104449164-104449164 C>T	0.0	1913	MELANOMA	0.0005	-	-	-	GRIN3A	ENST00000361820,p.E340K|uc004bbp.2,p.E340K|uc004bbq.1,p.E340K|NM_133445,p.E340K	protein_coding, processed_transcript	uc004bbq.1	nonsynonymous SNV	exon2	c.G1018A	p.E340K	FGCDMESIRRIFEITTQFGVMPPEL	FGCDMESIRRIFKITTQFGVMPPEL	1.0	4.0	unscreened	-	1913_9:104449164-104449164 C>T_FGCDMESIRRIFKITTQFGVMPPEL
8:27779265-27779265 C>T	0.0	1913	MELANOMA	-	-	-	-	SCARA5	uc003xgl.3,p.D247N|ENST00000301906,p.D204N|ENST00000524352,p.D247N|NM_173833,p.D247N|ENST00000518030,p.D204N|ENST00000354914,p.D247N|uc003xgj.3,p.D247N|uc003xgk.3,p.D204N	protein_coding	uc003xgl.3	nonsynonymous SNV	exon4	c.G739A	p.D247N	SYDVALHRTRLQDLRVLVSNASEDT	SYDVALHRTRLQNLRVLVSNASEDT	1.0	5.0	unscreened	-	1913_8:27779265-27779265 C>T_SYDVALHRTRLQNLRVLVSNASEDT
19:15760841-15760841 T>A	0.0	1913	MELANOMA	-	-	-	-	CYP4F3	NM_001199208,p.F256I|uc002nbj.3,p.F256I|ENST00000591058,p.F256I|NM_000896,p.F256I|ENST00000585846,p.F256I|ENST00000221307,p.F256I|uc010xok.2,p.F256I|uc010xom.2,p.F107I|uc010xol.2,p.F256I|ENST00000586182,p.F256I|NM_001199209,p.F256I|uc002nbk.3,p.F256I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xom.2	nonsynonymous SNV	exon6	c.T319A	p.F107I	DFLYYLTPDGQRFRRACRLVHDFTD	DFLYYLTPDGQRIRRACRLVHDFTD	2.0	8.0	unscreened	-	1913_19:15760841-15760841 T>A_DFLYYLTPDGQRIRRACRLVHDFTD
12:81747102-81747102 T>C	0.0	1913	MELANOMA	-	-	-	-	PPFIA2	uc031qim.1,p.D597G|uc031qiv.1,p.D498G|NM_001220477,p.D523G|uc031qiu.1,p.D523G|NM_001282536,p.D444G|ENST00000550584,p.D597G|NM_003625,p.D597G|uc031qis.1,p.D597G|NM_001220473,p.D597G|ENST00000548586,p.D597G|ENST00000443686,p.D498G|uc031qiq.1,p.D579G|uc031qin.1,p.D579G|NM_001220475,p.D597G|ENST00000541570,p.D164G|ENST00000552948,p.D597G|uc031qip.1,p.D597G|ENST00000549325,p.D579G|uc031qix.1,p.D597G|uc031qih.1,p.D164G|uc031qiw.1,p.D597G|uc031qil.1,p.D498G|uc031qik.1,p.D523G|NM_001220476,p.D597G|ENST00000549396,p.D597G|NM_001220478,p.D498G|uc031qiy.1,p.D597G|ENST00000553058,p.D178G|NM_001220474,p.D579G|NM_001220479,p.D164G|uc031qio.1,p.D597G|ENST00000407050,p.D523G|ENST00000333447,p.D579G|uc031qii.1,p.D164G|uc031qir.1,p.D597G|ENST00000550359,p.D444G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qiy.1	nonsynonymous SNV	exon15	c.A1790G	p.D597G	VRRDEPKVKSLGDHEWNRTQQIGVL	VRRDEPKVKSLGGHEWNRTQQIGVL	4.0	1.0	unscreened	-	1913_12:81747102-81747102 T>C_VRRDEPKVKSLGGHEWNRTQQIGVL
11:7111013-7111013 C>T	0.0	1913	MELANOMA	-	-	-	-	RBMXL2	NM_014469,p.S221L|ENST00000306904,p.S221L|uc001mfc.2,p.S221L	protein_coding	uc001mfc.2	nonsynonymous SNV	exon1	c.C662T	p.S221L	PRDEGYSSRDGYSSRDYREPRGFAP	PRDEGYSSRDGYLSRDYREPRGFAP	1.0	9.0	unscreened	-	1913_11:7111013-7111013 C>T_PRDEGYSSRDGYLSRDYREPRGFAP
X:49113304-49113304 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1468364;OCCURENCE=1(large_intestine)	-	FOXP3	NM_014009,p.S184L|uc022bwa.1,p.S134L|ENST00000557224,p.S149L|ENST00000518685,p.S149L|NM_001114377,p.S149L|uc004dnf.4,p.S184L|ENST00000376197,p.S134L|ENST00000376199,p.S149L|uc004dne.4,p.S149L|ENST00000376207,p.S184L|ENST00000455775,p.S184L|uc011mnc.2,p.S184L	protein_coding	uc022bwa.1	nonsynonymous SNV	exon5	c.C401T	p.S134L	PNPSAPRKDSTLSAVPQSSYPLLAN	PNPSAPRKDSTLLAVPQSSYPLLAN	3.0	9.0	unscreened	-	1913_X:49113304-49113304 G>A_PNPSAPRKDSTLLAVPQSSYPLLAN
9:27284955-27284955 C>G	0.0	1913	MELANOMA	-	-	-	-	EQTN	NM_001161585,p.E188D|ENST00000537675,p.E188D|uc003zql.3,p.E217D|NM_020641,p.E217D|ENST00000380032,p.E217D|uc011lnq.2,p.E188D	protein_coding, processed_transcript	uc011lnq.2	nonsynonymous SNV	exon7	c.G564C	p.E188D	LYKLRHLSYKSCESQYSVNPELATM	LYKLRHLSYKSCDSQYSVNPELATM	1.0	9.0	unscreened	-	1913_9:27284955-27284955 C>G_LYKLRHLSYKSCDSQYSVNPELATM
1:75036845-75036845 C>T	0.0	1913	MELANOMA	-	-	-	-	ERICH3	NM_001002912,p.E1517K|uc001dgg.3,p.E1517K|ENST00000326665,p.E1517K	protein_coding, processed_transcript	uc001dgg.3	nonsynonymous SNV	exon14	c.G4549A	p.E1517K	ETREKQQHMVQGESETADVSPNNVQ	ETREKQQHMVQGKSETADVSPNNVQ	1.0	9.0	unscreened	-	1913_1:75036845-75036845 C>T_ETREKQQHMVQGKSETADVSPNNVQ
6:123384871-123384871 G>A	0.0	1913	MELANOMA	-	-	-	-	CLVS2	NM_001010852,p.E317K|ENST00000275162,p.E317K|uc003pzi.1,p.E317K|ENST00000368438,p.E171K	protein_coding	uc003pzi.1	nonsynonymous SNV	exon6	c.G949A	p.E317K	DPTVLKRMDKNEEENMQPLLSLD	DPTVLKRMDKNEKENMQPLLSLD	1.0	1.0	unscreened	-	1913_6:123384871-123384871 G>A_DPTVLKRMDKNEKENMQPLLSLD
9:77407671-77407671 C>T	0.0	1913	MELANOMA	-	-	-	-	TRPM6	NM_001177310,p.E798K|ENST00000360774,p.E803K|uc004ajk.1,p.E798K|uc022bib.1,p.E798K|NM_001177311,p.E798K|ENST00000451710,p.E803K|ENST00000361255,p.E798K|ENST00000376864,p.E803K|NM_017662,p.E803K|ENST00000449912,p.E798K|uc004ajl.1,p.E803K	protein_coding, processed_transcript	uc022bib.1	nonsynonymous SNV	exon19	c.G2392A	p.E798K	SKESASVKEYDLERGHDEKLDENQH	SKESASVKEYDLKRGHDEKLDENQH	1.0	6.0	unscreened	-	1913_9:77407671-77407671 C>T_SKESASVKEYDLKRGHDEKLDENQH
5:35667256-35667256 G>A	0.0	1913	MELANOMA	-	-	-	-	SPEF2	uc003jjo.3,p.R417K|NM_144722,p.R417K|ENST00000356031,p.R417K|uc003jjq.4,p.R417K|ENST00000509059,p.R417K|NM_024867,p.R417K|ENST00000440995,p.R417K|ENST00000282469,p.R417K|uc003jjn.1,p.R417K	retained_intron, protein_coding, nonsense_mediated_decay	uc003jjq.4	nonsynonymous SNV	exon9	c.G1250A	p.R417K	KEKRFHDQIAVERAQARYEKHYSVC	KEKRFHDQIAVEKAQARYEKHYSVC	2.0	8.0	unscreened	-	1913_5:35667256-35667256 G>A_KEKRFHDQIAVEKAQARYEKHYSVC
3:154886559-154886559 T>A	0.0	1913	MELANOMA	-	-	-	-	MME	uc003fac.1,p.D651E|uc010hvr.1,p.D651E|NM_007288,p.D651E|ENST00000492661,p.D651E|ENST00000462745,p.D651E|ENST00000460393,p.D651E|uc003fae.1,p.D651E|NM_007287,p.D651E|NM_000902,p.D651E|ENST00000360490,p.D651E|uc003fad.1,p.D651E|NM_007289,p.D651E|ENST00000493237,p.D651E|uc003fab.1,p.D651E	retained_intron, protein_coding, processed_transcript	uc010hvr.1	nonsynonymous SNV	exon20	c.T1953A	p.D651E	LNGINTLGENIADNGGLGQAYRAYQ	LNGINTLGENIAENGGLGQAYRAYQ	3.0	1.0	unscreened	-	1913_3:154886559-154886559 T>A_LNGINTLGENIAENGGLGQAYRAYQ
17:56387375-56387375 A>C	0.0	1913	MELANOMA	-	-	-	-	BZRAP1	NM_024418,p.F1222V|uc010dcs.4,p.F1222V|ENST00000343736,p.F1282V|ENST00000355701,p.F1282V|NM_004758,p.F1282V|NM_001261835,p.F1282V|uc010wnt.3,p.F1282V|uc002ivx.5,p.F1282V|ENST00000268893,p.F1222V	retained_intron, protein_coding	uc010wnt.3	nonsynonymous SNV	exon21	c.T3844G	p.F1282V	EEEEELGSRTCSFQKQVAGNSIREN	EEEEELGSRTCSVQKQVAGNSIREN	2.0	6.0	unscreened	-	1913_17:56387375-56387375 A>C_EEEEELGSRTCSVQKQVAGNSIREN
8:16026263-16026263 C>T	0.0	1913	MELANOMA	-	-	-	-	MSR1	ENST00000350896,p.E112K|ENST00000445506,p.E130K|uc003wwz.3,p.E112K|ENST00000262101,p.E112K|NM_138716,p.E112K|uc010lsu.3,p.E130K|NM_002445,p.E112K|NM_138715,p.E112K|uc003wxb.3,p.E112K|uc003wxa.3,p.E112K|ENST00000355282,p.E112K|ENST00000381998,p.E112K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lsu.3	nonsynonymous SNV	exon4	c.G388A	p.E130K	KGNDSEEEMRFQEVFMEHMSNMEKR	KGNDSEEEMRFQKVFMEHMSNMEKR	1.0	5.0	unscreened	-	1913_8:16026263-16026263 C>T_KGNDSEEEMRFQKVFMEHMSNMEKR
19:22941442-22941442 T>A	0.0	1913	MELANOMA	-	-	-	-	ZNF99	NM_001080409,p.K423N|ENST00000596209,p.K423N|ENST00000397104,p.K332N|uc021urt.1,p.K423N	protein_coding	uc021urt.1	nonsynonymous SNV	exon4	c.A1269T	p.K423N	KLTVHKVIHTAEKPCKCEECGKAFK	KLTVHKVIHTAENPCKCEECGKAFK	1.0	3.0	unscreened	-	1913_19:22941442-22941442 T>A_KLTVHKVIHTAENPCKCEECGKAFK
2:108618461-108618461 G>A	0.0	1913	MELANOMA	-	-	-	-	SLC5A7	uc002tdv.3,p.E236K|ENST00000264047,p.E236K|NM_021815,p.E236K|ENST00000409059,p.E236K|uc010ywn.2,p.E123K|uc010fjj.3,p.E236K|ENST00000540517,p.E131K	protein_coding	uc010ywn.2	nonsynonymous SNV	exon5	c.G367A	p.E123K	YQKPWLGTVDSSEVYSWLDSFLLLM	YQKPWLGTVDSSKVYSWLDSFLLLM	1.0	5.0	unscreened	-	1913_2:108618461-108618461 G>A_YQKPWLGTVDSSKVYSWLDSFLLLM
19:55450266-55450266 C>T	0.0	1913	MELANOMA	-	-	-	-	NLRP7	NM_139176,p.E641K|ENST00000328092,p.E641K|uc002qig.4,p.E641K|ENST00000448121,p.E641K	protein_coding, nonsense_mediated_decay	uc002qig.4	nonsynonymous SNV	exon4	c.G1921A	p.E641K	FLENYMDFELDIEFESSNSNLKFLE	FLENYMDFELDIKFESSNSNLKFLE	1.0	3.0	unscreened	-	1913_19:55450266-55450266 C>T_FLENYMDFELDIKFESSNSNLKFLE
1:62675554-62675554 G>A	0.0	1913	MELANOMA	-	-	-	-	L1TD1	uc021ooc.1,p.E370K|NM_001164835,p.E370K|ENST00000498273,p.E370K|uc001dae.4,p.E370K|NM_019079,p.E370K	protein_coding	uc021ooc.1	nonsynonymous SNV	exon5	c.G1108A	p.E370K	LFLKEVKVAKPEEMKNLETQEEEFS	LFLKEVKVAKPEKMKNLETQEEEFS	1.0	9.0	unscreened	-	1913_1:62675554-62675554 G>A_LFLKEVKVAKPEKMKNLETQEEEFS
21:46078177-46078177 C>T	0.0	1913	MELANOMA	-	-	-	-	KRTAP12-3	ENST00000397907,p.S94F|uc002zft.3,p.S94F|NM_198697,p.S94F	protein_coding	uc002zft.3	nonsynonymous SNV	exon1	c.C281T	p.S94F	TALCRPISCSTPSCC	TALCRPISCSTPFCC	1.0	5.0	unscreened	-	1913_21:46078177-46078177 C>T_TALCRPISCSTPFCC
2:179542399-179542399 C>T	0.0	1913	MELANOMA	-	-	-	-	TTN	uc002umz.1,p.E6831K|ENST00000589042,p.E11414K|uc031rqc.1,p.E11414K|ENST00000591111,p.E11097K|uc021vsy.2,p.E10170K|NM_133378,p.E10170K|NM_001267550,p.E11414K|NM_001256850,p.E11097K|ENST00000342992,p.E10170K|uc031rqd.1,p.E11097K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon144	c.G33289A	p.E11097K	EEYVPEEEEFVPEEEVLPEVKPKVP	EEYVPEEEEFVPKEEVLPEVKPKVP	2.0	5.0	unscreened	-	1913_2:179542399-179542399 C>T_EEYVPEEEEFVPKEEVLPEVKPKVP
3:138195306-138195306 G>A	0.0	1913	MELANOMA	-	-	-	-	ESYT3	NM_031913,p.E866K|ENST00000389567,p.E866K|uc003esk.3,p.E866K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003esk.3	nonsynonymous SNV	exon22	c.G2596A	p.E866K	KELGKVLIDLSKEDLIKGFSQWYEL	KELGKVLIDLSKKDLIKGFSQWYEL	1.0	2.0	unscreened	-	1913_3:138195306-138195306 G>A_KELGKVLIDLSKKDLIKGFSQWYEL
1:2418376-2418376 G>A	0.0	1913	MELANOMA	-	-	-	-	PLCH2	uc009vle.1,p.D71N|ENST00000419816,p.D283N|uc001ajj.1,p.D71N|uc001ajk.1,p.D71N|ENST00000378488,p.D283N|NM_014638,p.D283N|uc010nyz.2,p.D71N|ENST00000449969,p.D256N|ENST00000378486,p.D283N	retained_intron, protein_coding, processed_transcript	uc010nyz.2	nonsynonymous SNV	exon3	c.G211A	p.D71N	QKMAGVTLESCQDIIEQFEPCPENK	QKMAGVTLESCQNIIEQFEPCPENK	1.0	1.0	unscreened	-	1913_1:2418376-2418376 G>A_QKMAGVTLESCQNIIEQFEPCPENK
12:118199021-118199021 G>A	0.0	1913	MELANOMA	-	-	ID=COSM229244;OCCURENCE=1(skin)	-	KSR2	uc001two.2,p.P232S|ENST00000425217,p.P232S|NM_173598,p.P232S|ENST00000339824,p.P261S	retained_intron, protein_coding, processed_transcript	uc001two.2	nonsynonymous SNV	exon4	c.C694T	p.P232S	PPSPRQRHAVRTPPRTPNIVTTVTP	PPSPRQRHAVRTSPRTPNIVTTVTP	1.0	9.0	unscreened	-	1913_12:118199021-118199021 G>A_PPSPRQRHAVRTSPRTPNIVTTVTP
1:17409084-17409084 G>A	0.0	1913	MELANOMA	-	-	-	-	PADI2	ENST00000444885,p.P256S|uc010ocm.2,p.P256S|ENST00000375486,p.P372S|ENST00000375481,p.P372S|uc001baf.3,p.P372S|uc001bag.1,p.P372S|NM_007365,p.P372S	protein_coding, processed_transcript	uc010ocm.2	nonsynonymous SNV	exon7	c.C766T	p.P256S	APHKGFPVVLDSPRDGNLKDFPVKE	APHKGFPVVLDSSRDGNLKDFPVKE	3.0	2.0	unscreened	-	1913_1:17409084-17409084 G>A_APHKGFPVVLDSSRDGNLKDFPVKE
9:104432469-104432469 C>T	0.0	1913	MELANOMA	-	-	-	-	GRIN3A	ENST00000361820,p.G742E|uc004bbp.2,p.G742E|NM_133445,p.G742E|uc004bbq.1,p.G742E	protein_coding, processed_transcript	uc004bbq.1	nonsynonymous SNV	exon3	c.G2225A	p.G742E	RTVAIKPPKCWTGRFLMNLWAIFCM	RTVAIKPPKCWTERFLMNLWAIFCM	1.0	9.0	unscreened	-	1913_9:104432469-104432469 C>T_RTVAIKPPKCWTERFLMNLWAIFCM
2:171917641-171917641 G>A	1.0	1913	MELANOMA	-	-	-	-	TLK1	uc002ugp.2,p.S71L|NM_001136554,p.S71L|ENST00000431350,p.S119L|ENST00000442919,p.S71L|NM_012290,p.S119L|ENST00000521943,p.S71L|uc002ugn.2,p.S119L|ENST00000360843,p.S119L|uc002ugo.2,p.S119L|ENST00000409443,p.S119L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ugp.2	nonsynonymous SNV	exon4	c.C212T	p.S71L	KESETPEKKQSESSRGRKRKAENQN	KESETPEKKQSELSRGRKRKAENQN	7.0	4.0	unscreened	-	1913_2:171917641-171917641 G>A_KESETPEKKQSELSRGRKRKAENQN
5:140763127-140763127 C>T	0.0	1913	MELANOMA	-	-	-	-	PCDHGA7	NM_018920,p.P221S|uc003ljz.1,p.P221S|uc003lka.2,p.P221S|NM_032087,p.P221S|ENST00000518325,p.P221S	protein_coding	uc003lka.2	nonsynonymous SNV	exon1	c.C661T	p.P221S	HLVLTASDGGDPPRSSTAHIQVTVV	HLVLTASDGGDPSRSSTAHIQVTVV	3.0	9.0	unscreened	-	1913_5:140763127-140763127 C>T_HLVLTASDGGDPSRSSTAHIQVTVV
2:213886852-213886852 C>A	0.0	1913	MELANOMA	-	-	-	-	IKZF2	uc010fuu.3,p.G48C|ENST00000374327,p.G48C	retained_intron, protein_coding, nonsense_mediated_decay	uc010fuu.3	nonsynonymous SNV	exon3	c.G142T	p.G48C	GQHASPSHMTSMGKPHKCNYCGRSY	GQHASPSHMTSMCKPHKCNYCGRSY	3.0	6.0	unscreened	-	1913_2:213886852-213886852 C>A_GQHASPSHMTSMCKPHKCNYCGRSY
2:137852639-137852639 C>A	0.0	1913	MELANOMA	-	-	-	-	THSD7B	ENST00000272643,p.L383I|ENST00000409968,p.L383I|ENST00000543459,p.L242I|ENST00000413152,p.L352I|uc002tva.1,p.L352I|uc002tvb.3,p.L242I	retained_intron, protein_coding, processed_transcript	uc002tvb.3	nonsynonymous SNV	exon2	c.C724A	p.L242I	MAIGGGKECPELLEKEACIVEGELL	MAIGGGKECPELIEKEACIVEGELL	1.0	7.0	unscreened	-	1913_2:137852639-137852639 C>A_MAIGGGKECPELIEKEACIVEGELL
5:90049557-90049557 C>T	0.0	1913	MELANOMA	-	-	ID=COSM3719876;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	GPR98	uc003kjv.3,p.S1363F|NM_032119,p.S3763F|uc003kju.3,p.S3763F|ENST00000405460,p.S3763F	retained_intron, protein_coding, processed_transcript	uc003kjv.3	nonsynonymous SNV	exon22	c.C4088T	p.S1363F	YKGATIDQDRSKSVITTLPNDSPFG	YKGATIDQDRSKFVITTLPNDSPFG	3.0	2.0	unscreened	-	1913_5:90049557-90049557 C>T_YKGATIDQDRSKFVITTLPNDSPFG
21:18924271-18924271 G>A	0.0	1913	MELANOMA	-	-	-	-	CXADR	uc002ykh.2,p.V139I|uc002ykj.2,p.V139I|NM_001207066,p.V139I|uc021whp.1,p.V139I|ENST00000400166,p.V139I|uc002yki.3,p.V139I|NM_001207063,p.V139I|ENST00000284878,p.V139I|ENST00000400169,p.V139I|ENST00000306618,p.V139I|NM_001338,p.V139I	protein_coding	uc021whp.1	nonsynonymous SNV	exon3	c.G415A	p.V139I	GVANKKIHLVVLVKPSGARCYVDGS	GVANKKIHLVVLIKPSGARCYVDGS	1.0	3.0	unscreened	-	1913_21:18924271-18924271 G>A_GVANKKIHLVVLIKPSGARCYVDGS
1:24449803-24449803 G>A	0.0	1913	MELANOMA	-	-	-	-	IL22RA1	NM_021258,p.P261S|uc009vrb.2,p.P125S|ENST00000270800,p.P261S|uc010oeh.2,p.P261S|uc010oeg.1,p.P193S|uc001biq.2,p.P261S	protein_coding	uc010oeh.2	nonsynonymous SNV	exon6	c.C781T	p.P261S	LSYRYVTKPPAPPNSLNVQRVLTFQ	LSYRYVTKPPAPSNSLNVQRVLTFQ	1.0	2.0	unscreened	-	1913_1:24449803-24449803 G>A_LSYRYVTKPPAPSNSLNVQRVLTFQ
12:93196431-93196431 C>T	1.0	1913	MELANOMA	-	-	-	-	EEA1	ENST00000322349,p.E807K	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000322349	nonsynonymous SNV	exon19	c.G2419A	p.E807K	LESIKQKLTKQEEEKKILKQDFETL	LESIKQKLTKQEKEKKILKQDFETL	6.0	7.0	unscreened	-	1913_12:93196431-93196431 C>T_LESIKQKLTKQEKEKKILKQDFETL
8:110412305-110412305 G>A	0.0	1913	MELANOMA	-	-	-	-	PKHD1L1	uc003yne.3,p.G338E|NM_177531,p.G338E|ENST00000378402,p.G338E	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon13	c.G1013A	p.G338E	PPKPHILKTVYPGGRGLKLEVWNNS	PPKPHILKTVYPEGRGLKLEVWNNS	1.0	5.0	unscreened	-	1913_8:110412305-110412305 G>A_PPKPHILKTVYPEGRGLKLEVWNNS
9:8484270-8484270 G>A	0.0	1913	MELANOMA	-	-	ID=COSM3780120,COSM1110517,COSM1598528,COSM1598527,COSM3780121;OCCURENCE=1(urinary_tract),1(endometrium)	-	PTPRD	ENST00000486161,p.R677C|uc003zkq.3,p.R677C|NM_001171025,p.R667C|NM_130393,p.R672C|NM_130391,p.R677C|uc003zkk.3,p.R1088C|ENST00000537002,p.R674C|ENST00000355233,p.R677C|uc022bdj.1,p.R674C|ENST00000360074,p.R1075C|ENST00000397611,p.R674C|NM_130392,p.R677C|uc003zks.3,p.R667C|uc003zkp.3,p.R677C|ENST00000540109,p.R1088C|ENST00000356435,p.R1088C|NM_002839,p.R1088C|ENST00000397617,p.R667C|NM_001040712,p.R674C|ENST00000358503,p.R1066C|ENST00000381196,p.R1088C|ENST00000397606,p.R667C|uc003zkr.3,p.R672C	retained_intron, protein_coding, processed_transcript	uc022bdj.1	nonsynonymous SNV	exon13	c.C2020T	p.R674C	KPEKSYSFVLTNRGNSAGGLQHRVT	KPEKSYSFVLTNCGNSAGGLQHRVT	1.0	9.0	unscreened	-	1913_9:8484270-8484270 G>A_KPEKSYSFVLTNCGNSAGGLQHRVT
19:44103303-44103303 G>A	1.0	1913	MELANOMA	-	-	-	-	ZNF576	ENST00000529930,p.V136I|NM_001145347,p.V136I|uc002owy.2,p.V136I|ENST00000336564,p.V136I|ENST00000533118,p.V136I|ENST00000525771,p.V136I|NM_024327,p.V136I|ENST00000528387,p.V136I|ENST00000391965,p.V136I|uc002owz.2,p.V136I	retained_intron, protein_coding	uc002owz.2	nonsynonymous SNV	exon3	c.G406A	p.V136I	AVSLRRHRQMHEVRAPPGTFACTEC	AVSLRRHRQMHEIRAPPGTFACTEC	7.0	6.0	unscreened	-	1913_19:44103303-44103303 G>A_AVSLRRHRQMHEIRAPPGTFACTEC
1:196648828-196648828 G>A	0.0	1913	MELANOMA	-	-	ID=COSM901527;OCCURENCE=1(endometrium)	-	CFH	uc009wyx.3,p.R168Q|NM_001014975,p.R232Q|uc001gti.4,p.R232Q|NM_000186,p.R232Q|ENST00000359637,p.R168Q|ENST00000367429,p.R232Q|uc009wyw.3,p.R232Q|ENST00000439155,p.R232Q|uc001gtj.4,p.R232Q	retained_intron, protein_coding, ambiguous_orf	uc009wyx.3	nonsynonymous SNV	exon5	c.G503A	p.R168Q	PISQKIIYKENERFQYKCNMGYEYS	PISQKIIYKENEQFQYKCNMGYEYS	1.0	8.0	unscreened	-	1913_1:196648828-196648828 G>A_PISQKIIYKENEQFQYKCNMGYEYS
18:28972226-28972226 C>T	0.0	1913	MELANOMA	-	-	-	-	DSG4	NM_001134453,p.L310F|ENST00000359747,p.L310F|ENST00000308128,p.L310F|NM_177986,p.L310F|uc002kwq.2,p.L310F|uc002kwr.2,p.L310F	protein_coding	uc002kwr.2	nonsynonymous SNV	exon8	c.C928T	p.L310F	EGTDNWLAQYLILSGNDGNWFDIQT	EGTDNWLAQYLIFSGNDGNWFDIQT	1.0	9.0	unscreened	-	1913_18:28972226-28972226 C>T_EGTDNWLAQYLIFSGNDGNWFDIQT
3:7456821-7456821 A>G	0.0	1913	MELANOMA	-	-	-	-	GRM7	uc010hcg.2,p.K382R|uc003bqm.2,p.K382R|ENST00000389336,p.K382R|NM_181874,p.K382R|ENST00000440923,p.K382R|ENST00000389335,p.K382R|uc003bql.2,p.K382R|ENST00000467425,p.K382R|ENST00000357716,p.K382R|ENST00000445087,p.K39R|ENST00000486284,p.K382R|ENST00000403881,p.K382R|ENST00000402647,p.K382R|NM_000844,p.K382R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hcg.2	nonsynonymous SNV	exon5	c.A1145G	p.K382R	ENFNCKLTISGSKKEDTDRKCTGQE	ENFNCKLTISGSRKEDTDRKCTGQE	1.0	9.0	unscreened	-	1913_3:7456821-7456821 A>G_ENFNCKLTISGSRKEDTDRKCTGQE
3:123333164-123333164 C>T	1.0	1913	MELANOMA	-	-	-	-	MYLK	uc003egm.3,p.D84N|ENST00000346322,p.D1776N|uc003egl.3,p.D85N|uc003egs.3,p.D1669N|ENST00000359169,p.D1794N|uc003egr.3,p.D1725N|ENST00000354792,p.D645N|uc010hrr.3,p.D280N|NM_053026,p.D1776N|NM_053027,p.D1794N|NM_053025,p.D1845N|uc011bjw.2,p.D1844N|uc011bjv.2,p.D645N|uc003egq.3,p.D1794N|ENST00000583087,p.D85N|uc003egp.3,p.D1776N|NM_053028,p.D1725N|ENST00000360772,p.D1794N|uc003ego.3,p.D1845N|NM_053031,p.D84N|NM_053032,p.D85N|ENST00000360304,p.D1845N|ENST00000475616,p.D1845N|ENST00000418370,p.D85N|ENST00000578202,p.D84N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bjw.2	nonsynonymous SNV	exon31	c.G5530A	p.D1844N	EGYPDPEVVWFKDDQSIRESRHFQI	EGYPDPEVVWFKNDQSIRESRHFQI	4.0	2.0	unscreened	-	1913_3:123333164-123333164 C>T_EGYPDPEVVWFKNDQSIRESRHFQI
11:6023417-6023417 T>G	0.0	1913	MELANOMA	-	-	-	-	OR56A4	NM_001005179,p.K321T|ENST00000330728,p.K321T|uc010qzv.2,p.K321T	protein_coding	uc010qzv.2	nonsynonymous SNV	exon1	c.A962C	p.K321T	VLLVLVITNLARKRIPPDVPILLNI	VLLVLVITNLARTRIPPDVPILLNI	1.0	9.0	unscreened	-	1913_11:6023417-6023417 T>G_VLLVLVITNLARTRIPPDVPILLNI
8:30703190-30703190 T>A	0.0	1913	MELANOMA	-	-	-	-	TEX15	NM_031271,p.K1115I|ENST00000256246,p.K1115I|uc003xil.3,p.K1115I	protein_coding, processed_transcript	uc003xil.3	nonsynonymous SNV	exon1	c.A3344T	p.K1115I	CLSRKSMASSVSKSHPTTSHMGEFC	CLSRKSMASSVSISHPTTSHMGEFC	1.0	7.0	unscreened	-	1913_8:30703190-30703190 T>A_CLSRKSMASSVSISHPTTSHMGEFC
17:9632062-9632062 C>T	0.0	1913	MELANOMA	-	-	-	-	USP43	uc002gmc.4,p.P555S|uc002gma.4,p.P732S|uc010coe.3,p.P840S|uc010vva.3,p.P1038S|ENST00000285199,p.P1043S|ENST00000570475,p.P1038S|uc010cod.4,p.P1043S|NM_001267576,p.P1038S|NM_153210,p.P1043S|ENST00000570827,p.P732S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vva.3	nonsynonymous SNV	exon15	c.C3112T	p.P1038S	SPAMDGQAPGSPPALRIPEGLARGL	SPAMDGQAPGSPSALRIPEGLARGL	2.0	9.0	unscreened	-	1913_17:9632062-9632062 C>T_SPAMDGQAPGSPSALRIPEGLARGL
22:30887647-30887647 C>T	0.0	1913	MELANOMA	-	-	-	-	SEC14L4	ENST00000381982,p.E332K|uc003aid.2,p.E332K|uc011akz.1,p.E332K|uc003aif.2,p.E278K|NM_001161368,p.E332K|ENST00000540456,p.E317K|ENST00000255858,p.E332K|ENST00000392772,p.E278K|NM_174977,p.E332K|uc003aie.2,p.E317K	protein_coding, nonsense_mediated_decay	uc011akz.1	nonsynonymous SNV	exon11	c.G994A	p.E332K	LKTKMGEQQSAREMTEVLPSQRYNA	LKTKMGEQQSARKMTEVLPSQRYNA	1.0	4.0	unscreened	-	1913_22:30887647-30887647 C>T_LKTKMGEQQSARKMTEVLPSQRYNA
6:32784647-32784647 C>T	1.0	1913	MELANOMA	-	-	-	-	HLA-DOB	NM_002120,p.D28N|uc011dqg.1,p.D28N|uc003oca.3,p.D28N|ENST00000438763,p.D28N	retained_intron, protein_coding, nonsense_mediated_decay	uc011dqg.1	nonsynonymous SNV	exon1	c.G82A	p.D28N	LTRLDSSMTQGTDSPEDFVIQAKAD	LTRLDSSMTQGTNSPEDFVIQAKAD	5.0	1.0	unscreened	-	1913_6:32784647-32784647 C>T_LTRLDSSMTQGTNSPEDFVIQAKAD
1:247712513-247712513 G>A	0.0	1913	MELANOMA	-	-	ID=COSM907040,COSM907041;OCCURENCE=1(endometrium),1(liver)	-	GCSAML	ENST00000366490,p.E128K	protein_coding, processed_transcript	ENST00000366490	nonsynonymous SNV	exon4	c.G382A	p.E128K	RVTVKRWEIISCENSGES	RVTVKRWEIISCKNSGES	1.0	8.0	unscreened	-	1913_1:247712513-247712513 G>A_RVTVKRWEIISCKNSGES
12:80714217-80714217 C>T	0.0	1913	MELANOMA	-	-	-	-	OTOGL	uc001szd.3,p.S1264F|ENST00000547103,p.S1264F|ENST00000458043,p.S1264F|NM_173591,p.S1264F	protein_coding, nonsense_mediated_decay	uc001szd.3	nonsynonymous SNV	exon33	c.C3791T	p.S1264F	LFKEKVSSLALVSLESAERPNYFLY	LFKEKVSSLALVFLESAERPNYFLY	2.0	8.0	unscreened	-	1913_12:80714217-80714217 C>T_LFKEKVSSLALVFLESAERPNYFLY
2:171917641-171917641 G>A	1.0	1913	MELANOMA	-	-	-	-	TLK1	ENST00000453628,p.S23L|NM_001136555,p.S23L|ENST00000434911,p.S23L|uc010zdn.1,p.S23L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zdn.1	nonsynonymous SNV	exon2	c.C68T	p.S23L	TTGKTPEKKQSESSRGRKRKAENQN	TTGKTPEKKQSELSRGRKRKAENQN	7.0	4.0	unscreened	-	1913_2:171917641-171917641 G>A_TTGKTPEKKQSELSRGRKRKAENQN
17:9632063-9632063 C>T	0.0	1913	MELANOMA	-	-	-	-	USP43	uc002gmc.4,p.P555L|uc010cod.4,p.P1043L|NM_153210,p.P1043L|NM_001267576,p.P1038L|ENST00000570475,p.P1038L|uc010coe.3,p.P840L|uc002gma.4,p.P732L|uc010vva.3,p.P1038L|ENST00000570827,p.P732L|ENST00000285199,p.P1043L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vva.3	nonsynonymous SNV	exon15	c.C3113T	p.P1038L	SPAMDGQAPGSPPALRIPEGLARGL	SPAMDGQAPGSPLALRIPEGLARGL	2.0	9.0	unscreened	-	1913_17:9632063-9632063 C>T_SPAMDGQAPGSPLALRIPEGLARGL
2:239054422-239054422 C>T	0.0	1913	MELANOMA	-	-	-	-	KLHL30	ENST00000409223,p.R367C|ENST00000305959,p.R349C|NM_198582,p.R367C|uc002vxr.2,p.R367C	protein_coding	uc002vxr.2	nonsynonymous SNV	exon5	c.C1099T	p.R367C	ASWKPVAPMLKPRTNHASAALNGEI	ASWKPVAPMLKPCTNHASAALNGEI	1.0	3.0	unscreened	-	1913_2:239054422-239054422 C>T_ASWKPVAPMLKPCTNHASAALNGEI
5:114557703-114557703 C>T	1.0	1913	MELANOMA	-	-	-	-	PGGT1B	NM_005023,p.G221R|uc003kqw.4,p.G221R|ENST00000419445,p.G221R	retained_intron, protein_coding, processed_transcript	uc003kqw.4	nonsynonymous SNV	exon7	c.G661A	p.G221R	GLAQGAGLESHGGSTFCGIASLCLM	GLAQGAGLESHGRSTFCGIASLCLM	6.0	7.0	unscreened	-	1913_5:114557703-114557703 C>T_GLAQGAGLESHGRSTFCGIASLCLM
13:25406069-25406069 A>T	0.0	1913	MELANOMA	-	-	-	-	RNF17	ENST00000255324,p.K812I|uc001ups.3,p.K751I|uc010tdd.1,p.K671I|ENST00000381921,p.K812I|NM_031277,p.K812I|uc010tde.2,p.K812I|uc001upr.3,p.K812I|NM_001184993,p.K812I|ENST00000418120,p.K136I	protein_coding, processed_transcript	uc010tde.2	nonsynonymous SNV	exon18	c.A2435T	p.K812I	KRTMQWSKEAKEKFEEKAQDKFMTC	KRTMQWSKEAKEIFEEKAQDKFMTC	1.0	9.0	unscreened	-	1913_13:25406069-25406069 A>T_KRTMQWSKEAKEIFEEKAQDKFMTC
13:70293551-70293551 A>T	0.0	1913	MELANOMA	-	-	-	-	KLHL1	uc001vip.3,p.H655Q|ENST00000377844,p.H655Q|NM_001286725,p.H594Q|NM_020866,p.H655Q|uc010thm.2,p.H594Q|ENST00000545028,p.H462Q	protein_coding	uc010thm.2	nonsynonymous SNV	exon8	c.T1782A	p.H594Q	ATCDGFLYAVGGHDAPASNHCSRLL	ATCDGFLYAVGGQDAPASNHCSRLL	1.0	9.0	unscreened	-	1913_13:70293551-70293551 A>T_ATCDGFLYAVGGQDAPASNHCSRLL
11:63067010-63067010 G>A	0.0	1913	MELANOMA	-	-	-	-	SLC22A10	uc009yor.3,p.E327K|ENST00000544661,p.E172K|ENST00000332793,p.E327K|ENST00000533483,p.E275K|ENST00000526800,p.E167K|uc010rmp.1,p.E167K|NM_001039752,p.E327K|ENST00000532724,p.E167K|ENST00000535888,p.E117K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010rmp.1	nonsynonymous SNV	exon4	c.G499A	p.E167K	LNIEVVRSTMQEELDAAQTKTTVCD	LNIEVVRSTMQEKLDAAQTKTTVCD	1.0	8.0	unscreened	-	1913_11:63067010-63067010 G>A_LNIEVVRSTMQEKLDAAQTKTTVCD
19:55341708-55341708 C>T	0.0	1913	MELANOMA	-	-	-	-	KIR3DL1	ENST00000541392,p.S421F|ENST00000538269,p.S438F|uc021vbm.1,p.S438F|ENST00000358178,p.S343F|ENST00000326542,p.S421F|uc021vbo.1,p.S421F|uc002qhk.4,p.S438F|ENST00000391728,p.S438F|uc010esf.3,p.S343F|NM_013289,p.S438F	protein_coding	uc021vbo.1	nonsynonymous SNV	exon8	c.C1262T	p.S421F	ILYTELPNAKPRSKVVSCP	ILYTELPNAKPRFKVVSCP	1.0	7.0	unscreened	-	1913_19:55341708-55341708 C>T_ILYTELPNAKPRFKVVSCP
8:75227750-75227750 G>A	0.0	1913	MELANOMA	-	-	-	-	JPH1	NM_020647,p.S162L|uc003yae.3,p.S162L|ENST00000342232,p.S162L|uc003yaf.3,p.S162L|uc003yag.1,p.S26L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003yag.1	nonsynonymous SNV	exon2	c.C77T	p.S26L	GMATVIRSPLRTSLASLRSEQSNGS	GMATVIRSPLRTLLASLRSEQSNGS	1.0	4.0	unscreened	-	1913_8:75227750-75227750 G>A_GMATVIRSPLRTLLASLRSEQSNGS
7:137773486-137773486 G>A	0.0	1913	MELANOMA	0.0005	-	-	-	AKR1D1	ENST00000242375,p.R78Q|uc003vtz.3,p.R78Q|ENST00000432161,p.R78Q|NM_001190906,p.R78Q|ENST00000411726,p.R78Q|uc011kqb.1,p.R78Q|NM_005989,p.R78Q|uc011kqf.2,p.R78Q|NM_001190907,p.R78Q|uc011kqe.1,p.R78Q	retained_intron, protein_coding, processed_transcript	uc011kqf.2	nonsynonymous SNV	exon2	c.G233A	p.R78Q	EAIREKIAEGKVRREDIFYCGKLWA	EAIREKIAEGKVQREDIFYCGKLWA	1.0	3.0	unscreened	-	1913_7:137773486-137773486 G>A_EAIREKIAEGKVQREDIFYCGKLWA
2:179516617-179516617 G>A	0.0	1913	MELANOMA	-	-	-	-	TTN	NM_133378,p.P10691S|ENST00000591111,p.P11618S|ENST00000342992,p.P10691S|uc031rqc.1,p.P13125S|NM_001256850,p.P11618S|uc031rqd.1,p.P11618S|uc021vsy.2,p.P10691S|NM_001267550,p.P13125S|ENST00000589042,p.P13125S	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon160	c.C34852T	p.P11618S	AEVVEEPEPAAPPQVTVPPKKPVPE	AEVVEEPEPAAPSQVTVPPKKPVPE	2.0	6.0	unscreened	-	1913_2:179516617-179516617 G>A_AEVVEEPEPAAPSQVTVPPKKPVPE
19:22256335-22256335 G>A	0.0	1913	MELANOMA	-	-	-	-	ZNF257	ENST00000600162,p.M65I	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000600162	nonsynonymous SNV	exon3	c.G195A	p.M65I	ITCLEQGKEPCNMKRHEMVAKPPAF	ITCLEQGKEPCNIKRHEMVAKPPAF	5.0	9.0	unscreened	-	1913_19:22256335-22256335 G>A_ITCLEQGKEPCNIKRHEMVAKPPAF
12:41312476-41312476 G>A	0.0	1913	MELANOMA	-	-	-	-	CNTN1	ENST00000547702,p.E44K|uc001rmm.2,p.E44K|ENST00000551295,p.E44K|ENST00000360099,p.E44K|ENST00000551424,p.E44K|uc001rmo.4,p.E44K|ENST00000548005,p.E44K|NM_001256063,p.E44K|ENST00000552248,p.E44K|ENST00000547849,p.E44K|ENST00000348761,p.E33K|NM_175038,p.E33K|uc031qgz.1,p.E33K|ENST00000552913,p.E44K|uc009zjy.3,p.E44K|ENST00000347616,p.E44K|NM_001256064,p.E44K|NM_001843,p.E44K	protein_coding, processed_transcript, nonsense_mediated_decay	uc031qgz.1	nonsynonymous SNV	exon2	c.G97A	p.E33K	VSEEDKGFGPIFEEQPINTIYPEES	VSEEDKGFGPIFKEQPINTIYPEES	3.0	2.0	unscreened	-	1913_12:41312476-41312476 G>A_VSEEDKGFGPIFKEQPINTIYPEES
X:106843916-106843916 C>T	0.0	1913	MELANOMA	-	-	-	-	FRMPD3	ENST00000276185,p.P916S|NM_032428,p.P916S|ENST00000439554,p.P864S	protein_coding, processed_transcript	NM_032428	nonsynonymous SNV	exon16	c.C2746T	p.P916S	RTYSLAVHPALSPQLSEQKNLSLLS	RTYSLAVHPALSSQLSEQKNLSLLS	1.0	9.0	unscreened	-	1913_X:106843916-106843916 C>T_RTYSLAVHPALSSQLSEQKNLSLLS
10:28272879-28272879 G>A	0.0	1913	MELANOMA	-	-	-	-	ARMC4	NM_018076,p.P238S|ENST00000434029,p.P132S|uc009xky.3,p.P238S|ENST00000305242,p.P238S|uc001itz.3,p.P238S|NM_001290020,p.P238S|ENST00000239715,p.P95S	protein_coding, processed_transcript	uc009xky.3	nonsynonymous SNV	exon6	c.C712T	p.P238S	TSDYEFSNGCRAPPWRQIRGEICYV	TSDYEFSNGCRASPWRQIRGEICYV	1.0	2.0	unscreened	-	1913_10:28272879-28272879 G>A_TSDYEFSNGCRASPWRQIRGEICYV
9:113170365-113170365 C>G	0.0	1913	MELANOMA	-	-	-	-	SVEP1	ENST00000401783,p.L2505F|ENST00000374469,p.L2482F|ENST00000297826,p.L431F|NM_153366,p.L2505F|uc010mty.3,p.L431F|uc010mtz.3,p.L2505F	protein_coding, processed_transcript	uc010mtz.3	nonsynonymous SNV	exon38	c.G7515C	p.L2505F	CKAIECLKPKEILNGKFSYTDLHYG	CKAIECLKPKEIFNGKFSYTDLHYG	1.0	7.0	unscreened	-	1913_9:113170365-113170365 C>G_CKAIECLKPKEIFNGKFSYTDLHYG
5:63894254-63894254 A>T	0.0	1913	MELANOMA	-	-	-	-	RGS7BP	ENST00000334025,p.K225I|uc003jtj.4,p.K225I|uc011cqu.3,p.K92I|NM_001029875,p.K225I|NM_001271890,p.K92I	retained_intron, protein_coding, processed_transcript	uc011cqu.3	nonsynonymous SNV	exon3	c.A275T	p.K92I	LSKLRETMPLPLKNQDDSSLLNLTP	LSKLRETMPLPLINQDDSSLLNLTP	1.0	2.0	unscreened	-	1913_5:63894254-63894254 A>T_LSKLRETMPLPLINQDDSSLLNLTP
6:47646784-47646784 G>A	0.0	1913	MELANOMA	-	-	-	-	GPR111	uc003oyy.3,p.G61R|uc010jzj.1,p.G129R|ENST00000296862,p.G129R|ENST00000507065,p.G61R|ENST00000398742,p.G61R|ENST00000467205,p.G61R|NM_153839,p.G61R	protein_coding, nonsense_mediated_decay	uc010jzj.1	nonsynonymous SNV	exon4	c.G385A	p.G129R	SQCTQPCPPDTQGNMGFSCRQKTWH	SQCTQPCPPDTQRNMGFSCRQKTWH	1.0	8.0	unscreened	-	1913_6:47646784-47646784 G>A_SQCTQPCPPDTQRNMGFSCRQKTWH
17:12656085-12656085 G>A	0.0	1913	MELANOMA	-	-	-	-	MYOCD	uc002gno.2,p.E494K|uc002gnp.1,p.E398K|ENST00000343344,p.E494K|ENST00000443061,p.E199K|NM_153604,p.E494K|NM_001146312,p.E494K|uc002gnq.2,p.E213K|ENST00000425538,p.E494K|uc002gnn.2,p.E494K|ENST00000395988,p.E398K	protein_coding, nonsense_mediated_decay	uc002gnq.2	nonsynonymous SNV	exon3	c.G637A	p.E213K	FGLHPSPVHVCTEESLMSSLNGGSV	FGLHPSPVHVCTKESLMSSLNGGSV	1.0	5.0	unscreened	-	1913_17:12656085-12656085 G>A_FGLHPSPVHVCTKESLMSSLNGGSV
2:137814319-137814319 G>A	0.0	1913	MELANOMA	-	-	-	-	THSD7B	uc002tvb.3,p.E16K|ENST00000409968,p.E157K|ENST00000272643,p.E157K|uc002tva.1,p.E126K|ENST00000413152,p.E126K|ENST00000543459,p.E16K	retained_intron, protein_coding, processed_transcript	uc002tvb.3	nonsynonymous SNV	exon1	c.G46A	p.E16K	CIQKLNRTVVANEICEHFALQPPTE	CIQKLNRTVVANKICEHFALQPPTE	1.0	4.0	unscreened	-	1913_2:137814319-137814319 G>A_CIQKLNRTVVANKICEHFALQPPTE
5:180582634-180582634 C>T	0.0	1913	MELANOMA	-	-	-	-	OR2V2	NM_206880,p.S231F|ENST00000328275,p.S231F|uc011dhj.2,p.S231F	protein_coding	uc011dhj.2	nonsynonymous SNV	exon1	c.C692T	p.S231F	YAHILGTVLQMHSAQAWKKALATCS	YAHILGTVLQMHFAQAWKKALATCS	1.0	3.0	unscreened	-	1913_5:180582634-180582634 C>T_YAHILGTVLQMHFAQAWKKALATCS
7:87175250-87175250 T>A	0.0	1913	MELANOMA	-	-	-	-	ABCB1	ENST00000265724,p.I606F|NM_000927,p.I606F|uc003uiz.2,p.I606F|ENST00000543898,p.I542F|uc011khc.2,p.I542F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011khc.2	nonsynonymous SNV	exon13	c.A1624T	p.I542F	NADVIAGFDDGVIVEKGNHDELMKE	NADVIAGFDDGVFVEKGNHDELMKE	1.0	6.0	unscreened	-	1913_7:87175250-87175250 T>A_NADVIAGFDDGVFVEKGNHDELMKE
19:43690494-43690494 C>T	0.0	1913	MELANOMA	-	-	-	-	PSG5	NM_001130014,p.A22T|uc002ovu.3,p.A22T|ENST00000407568,p.A22T|ENST00000342951,p.A22T|ENST00000407356,p.A22T|ENST00000366175,p.A22T|ENST00000599812,p.A22T|ENST00000404580,p.A22T|uc002ovx.3,p.A22T|NM_002781,p.A22T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ovx.3	nonsynonymous SNV	exon1	c.G64A	p.A22T	TQHITWKGLLLTASLLNFWNLPITA	TQHITWKGLLLTTSLLNFWNLPITA	1.0	4.0	unscreened	-	1913_19:43690494-43690494 C>T_TQHITWKGLLLTTSLLNFWNLPITA
11:67171794-67171794 G>A	0.0	1913	MELANOMA	-	-	-	-	TBC1D10C	ENST00000312390,p.G41R|NM_001256508,p.G41R|ENST00000529635,p.G41R|ENST00000526387,p.G41R|ENST00000542590,p.G41R|uc001ola.4,p.G41R|uc001okz.4,p.G41R|NM_198517,p.G41R	retained_intron, protein_coding, nonsense_mediated_decay	uc001ola.4	nonsynonymous SNV	exon2	c.G121A	p.G41R	SGPGPYRQADRYGFIGGSSAEPGPG	SGPGPYRQADRYRFIGGSSAEPGPG	4.0	1.0	unscreened	-	1913_11:67171794-67171794 G>A_SGPGPYRQADRYRFIGGSSAEPGPG
5:121786421-121786421 G>A	0.0	1913	MELANOMA	-	-	-	-	SNCAIP	NM_005460,p.E627K|uc003ktc.1,p.E143K|ENST00000379533,p.E674K|ENST00000509154,p.E567K|uc003ksy.1,p.E261K|uc010jcu.2,p.E223K|ENST00000379536,p.E567K|uc003ksz.1,p.E261K|NM_001242935,p.E261K|uc011cwm.1,p.E261K|uc010jcx.1,p.E567K|uc003ksx.1,p.E674K|uc003kta.1,p.E259K|ENST00000261367,p.E674K|ENST00000414317,p.E229K|ENST00000542191,p.E185K|uc011cwl.1,p.E185K|uc010jcw.1,p.E321K|ENST00000379538,p.E261K|uc003ksw.1,p.E627K|ENST00000261368,p.E627K	retained_intron, protein_coding, nonsense_mediated_decay	uc011cwm.1	nonsynonymous SNV	exon8	c.G781A	p.E261K	DSDKILRQLLGKEISENVCTQEKLS	DSDKILRQLLGKKISENVCTQEKLS	3.0	8.0	unscreened	-	1913_5:121786421-121786421 G>A_DSDKILRQLLGKKISENVCTQEKLS
3:52597375-52597375 A>G	1.0	1913	MELANOMA	-	-	-	1	PBRM1	ENST00000409114,p.I1352T|uc003dew.2,p.I1337T|ENST00000423351,p.I1336T|uc010hmk.1,p.I1312T|ENST00000409767,p.I1352T|uc003det.2,p.I1352T|ENST00000296302,p.I1337T|uc003der.2,p.I1305T|uc003dez.1,p.I1336T|uc003deu.2,p.I1352T|uc003deq.2,p.I1337T|ENST00000356770,p.I1305T|uc003des.2,p.I1337T|ENST00000337303,p.I1337T|ENST00000409057,p.I1337T|ENST00000410007,p.I1312T	retained_intron, protein_coding, nonsense_mediated_decay	uc010hmk.1	nonsynonymous SNV	exon24	c.T3935C	p.I1312T	DIEEMGEEDSEVIEPPSLPQLQTPL	DIEEMGEEDSEVTEPPSLPQLQTPL	7.0	9.0	unscreened	-	1913_3:52597375-52597375 A>G_DIEEMGEEDSEVTEPPSLPQLQTPL
14:63269125-63269125 C>T	0.0	1913	MELANOMA	-	-	-	-	KCNH5	uc001xfz.1,p.E524K|uc001xfy.3,p.E582K|NM_139318,p.E582K|ENST00000322893,p.E582K|uc001xfx.3,p.E582K|ENST00000394968,p.E524K|NM_172375,p.E582K|ENST00000420622,p.E582K	protein_coding	uc001xfz.1	nonsynonymous SNV	exon9	c.G1570A	p.E524K	HCAPGDLIYHAGESVDALCFVVSGS	HCAPGDLIYHAGKSVDALCFVVSGS	1.0	3.0	unscreened	-	1913_14:63269125-63269125 C>T_HCAPGDLIYHAGKSVDALCFVVSGS
11:55735081-55735081 C>T	0.0	1913	MELANOMA	-	-	-	-	OR10AG1	NM_001005491,p.D287N|ENST00000312345,p.D287N|uc010rit.2,p.D287N	protein_coding	uc010rit.2	nonsynonymous SNV	exon1	c.G859A	p.D287N	TLNPIIYTLRNKDIMVALRKLLAKL	TLNPIIYTLRNKNIMVALRKLLAKL	1.0	8.0	unscreened	-	1913_11:55735081-55735081 C>T_TLNPIIYTLRNKNIMVALRKLLAKL
1:184764701-184764701 C>T	1.0	1913	MELANOMA	-	-	-	-	FAM129A	uc001gra.4,p.D733N|NM_052966,p.D733N|ENST00000367511,p.D733N	protein_coding, processed_transcript	uc001gra.4	nonsynonymous SNV	exon14	c.G2197A	p.D733N	EVPVDSAPVMEEDTNGESHVPQENE	EVPVDSAPVMEENTNGESHVPQENE	6.0	8.0	unscreened	-	1913_1:184764701-184764701 C>T_EVPVDSAPVMEENTNGESHVPQENE
12:7640083-7640083 C>T	0.0	1913	MELANOMA	-	-	-	-	CD163	uc001qsz.3,p.G641E|NM_004244,p.G641E|ENST00000359156,p.G641E|uc009zfw.2,p.G674E|ENST00000432237,p.G641E|ENST00000541972,p.G629E|uc001qta.3,p.G641E|NM_203416,p.G641E|ENST00000396620,p.G674E	retained_intron, protein_coding, processed_transcript	uc009zfw.2	nonsynonymous SNV	exon7	c.G2021A	p.G674E	ALSTPGGARFGKGNGQIWRHMFHCT	ALSTPGGARFGKENGQIWRHMFHCT	2.0	1.0	unscreened	-	1913_12:7640083-7640083 C>T_ALSTPGGARFGKENGQIWRHMFHCT
19:42486069-42486069 C>T	1.0	1913	MELANOMA	-	-	-	-	ATP1A3	ENST00000545399,p.D408N|NM_001256214,p.D408N|uc010xwg.2,p.D365N|ENST00000302102,p.D395N|ENST00000543770,p.D406N|ENST00000441343,p.D395N|ENST00000602133,p.D365N|uc002osh.4,p.D395N|NM_152296,p.D395N|uc010xwh.3,p.D408N|NM_001256213,p.D406N|uc010xwf.2,p.D406N|uc002osg.4,p.D395N	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc010xwh.3	nonsynonymous SNV	exon9	c.G1222A	p.D408N	FDNQIHEADTTEDQSGTSFDKSSHT	FDNQIHEADTTENQSGTSFDKSSHT	6.0	7.0	unscreened	-	1913_19:42486069-42486069 C>T_FDNQIHEADTTENQSGTSFDKSSHT
9:138586938-138586938 C>T	0.0	1913	MELANOMA	-	-	-	-	SOHLH1	NM_001012415,p.G278E|NM_001101677,p.G278E|ENST00000298466,p.G278E|uc004cgl.3,p.G278E|ENST00000425225,p.G278E|uc010nbe.3,p.G278E	protein_coding	uc010nbe.3	nonsynonymous SNV	exon6	c.G833A	p.G278E	QAGPLAMGAAPLGEPAKEDPMLAQE	QAGPLAMGAAPLEEPAKEDPMLAQE	1.0	1.0	unscreened	-	1913_9:138586938-138586938 C>T_QAGPLAMGAAPLEEPAKEDPMLAQE
3:189597951-189597951 G>A	0.0	1913	MELANOMA	-	-	-	1	TP63	uc003frx.2,p.R483Q|uc003fsb.2,p.R389Q|NM_001114982,p.R389Q|NM_001114979,p.R483Q|ENST00000418709,p.R483Q|ENST00000437221,p.R389Q	retained_intron, protein_coding	uc003fsb.2	nonsynonymous SNV	exon9	c.G1166A	p.R389Q	SDVFFRHSKPPNRSVYP	SDVFFRHSKPPNQSVYP	1.0	1.0	unscreened	-	1913_3:189597951-189597951 G>A_SDVFFRHSKPPNQSVYP
5:140176515-140176515 G>A	0.0	1913	MELANOMA	-	-	-	-	PCDHA2	uc011czy.2,p.E656K|NM_031495,p.E656K|uc003lhd.2,p.E656K|NM_018905,p.E656K|ENST00000526136,p.E656K|ENST00000378132,p.E656K|ENST00000520672,p.E656K|NM_031496,p.E656K|uc003lhc.1,p.E656K	protein_coding	uc011czy.2	nonsynonymous SNV	exon1	c.G1966A	p.E656K	RHRLLVLVKDHGEPALTATATVLVS	RHRLLVLVKDHGKPALTATATVLVS	1.0	8.0	unscreened	-	1913_5:140176515-140176515 G>A_RHRLLVLVKDHGKPALTATATVLVS
18:61471487-61471487 C>T	0.0	1913	MELANOMA	-	-	-	-	SERPINB7	uc002ljm.4,p.T254I|ENST00000540675,p.T237I|NM_001261831,p.T237I|ENST00000546027,p.T254I|ENST00000398019,p.T254I|ENST00000336429,p.T254I|NM_001261830,p.T254I|uc010dqg.4,p.T254I|NM_003784,p.T254I|uc002ljl.4,p.T254I|NM_001040147,p.T254I|uc010xet.3,p.T237I	protein_coding	uc010xet.3	nonsynonymous SNV	exon7	c.C710T	p.T237I	PENDLSEIENKLTFQNLMEWTNPRR	PENDLSEIENKLIFQNLMEWTNPRR	1.0	9.0	unscreened	-	1913_18:61471487-61471487 C>T_PENDLSEIENKLIFQNLMEWTNPRR
6:43400292-43400292 C>T	1.0	1913	MELANOMA	-	-	-	-	ABCC10	ENST00000372530,p.P192S|NM_001198934,p.P192S|uc003ouy.1,p.P192S|uc003ouz.1,p.P149S|NM_033450,p.P149S|ENST00000244533,p.P149S	retained_intron, protein_coding, processed_transcript	uc003ouz.1	nonsynonymous SNV	exon1	c.C445T	p.P149S	AALLAYALGWAAPGGPREPWAQEPL	AALLAYALGWAASGGPREPWAQEPL	7.0	8.0	unscreened	-	1913_6:43400292-43400292 C>T_AALLAYALGWAASGGPREPWAQEPL
18:29049138-29049138 C>T	0.0	1913	MELANOMA	0.0046	-	-	-	DSG3	uc002kws.3,p.R575W|ENST00000257189,p.R575W|NM_001944,p.R575W	protein_coding	uc002kws.3	nonsynonymous SNV	exon12	c.C1723T	p.R575W	HISLVLTDSQNNRCEMPRSLTLEVC	HISLVLTDSQNNWCEMPRSLTLEVC	1.0	9.0	unscreened	-	1913_18:29049138-29049138 C>T_HISLVLTDSQNNWCEMPRSLTLEVC
8:110439288-110439288 G>A	0.0	1913	MELANOMA	-	-	-	-	PKHD1L1	ENST00000378402,p.G968E|NM_177531,p.G968E|uc003yne.3,p.G968E	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon25	c.G2903A	p.G968E	AADLQFALQSLEGMGRISVTREGTC	AADLQFALQSLEEMGRISVTREGTC	1.0	4.0	unscreened	-	1913_8:110439288-110439288 G>A_AADLQFALQSLEEMGRISVTREGTC
6:134349853-134349853 C>T	0.0	1913	MELANOMA	-	-	-	-	SLC2A12	ENST00000275230,p.M370I|uc003qem.1,p.M370I|NM_145176,p.M370I	protein_coding	uc003qem.1	nonsynonymous SNV	exon2	c.G1110A	p.M370I	LVTMGIVNLNIHMNFTHICRSHNSI	LVTMGIVNLNIHINFTHICRSHNSI	1.0	8.0	unscreened	-	1913_6:134349853-134349853 C>T_LVTMGIVNLNIHINFTHICRSHNSI
16:70989346-70989346 C>T	0.0	1913	MELANOMA	-	-	-	-	HYDIN	uc031qwy.1,p.G2083E|ENST00000393567,p.G2083E|NM_001270974,p.G2083E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon40	c.G6248A	p.G2083E	VLEAVANSNNIPGIRARELCIRAAI	VLEAVANSNNIPEIRARELCIRAAI	4.0	9.0	unscreened	-	1913_16:70989346-70989346 C>T_VLEAVANSNNIPEIRARELCIRAAI
4:81967206-81967206 G>A	0.0	1913	MELANOMA	-	-	-	-	BMP3	uc003hmg.4,p.E211K|ENST00000282701,p.E211K|NM_001201,p.E211K	protein_coding	uc003hmg.4	nonsynonymous SNV	exon2	c.G631A	p.E211K	SKDITQLLRKAKENEEFLIGFNITS	SKDITQLLRKAKKNEEFLIGFNITS	1.0	9.0	unscreened	-	1913_4:81967206-81967206 G>A_SKDITQLLRKAKKNEEFLIGFNITS
5:38350642-38350642 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1595350,COSM1067856;OCCURENCE=1(endometrium)	-	EGFLAM	uc003jlc.2,p.R111C|ENST00000354891,p.R111C|uc003jlb.2,p.R111C|ENST00000322350,p.R111C|NM_152403,p.R111C|NM_001205301,p.R111C	retained_intron, protein_coding, nonsense_mediated_decay	uc003jlc.2	nonsynonymous SNV	exon4	c.C331T	p.R111C	EVIGDLKPGTEYRVSIAAYSQAGKG	EVIGDLKPGTEYCVSIAAYSQAGKG	1.0	8.0	unscreened	-	1913_5:38350642-38350642 C>T_EVIGDLKPGTEYCVSIAAYSQAGKG
1:233394184-233394184 C>T	0.0	1913	MELANOMA	-	-	-	-	PCNXL2	NM_014801,p.G475E|uc001hvl.2,p.G475E|ENST00000258229,p.G475E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001hvl.2	nonsynonymous SNV	exon5	c.G1424A	p.G475E	STNQCSGYGSGEGGNAIKDHSSSSR	STNQCSGYGSGEEGNAIKDHSSSSR	5.0	9.0	unscreened	-	1913_1:233394184-233394184 C>T_STNQCSGYGSGEEGNAIKDHSSSSR
2:18768783-18768783 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1013869;OCCURENCE=1(endometrium),1(large_intestine),1(oesophagus)	-	NT5C1B,NT5C1B-RDH14	uc010exr.3,p.R36C|ENST00000444297,p.R36C|NM_033253,p.R36C|ENST00000406971,p.R36C|uc010yju.2,p.R36C|ENST00000304081,p.R36C|NM_001199103,p.R36C|uc002rda.3,p.R36C	 nonsense_mediated_decay, protein_coding,protein_coding, processed_transcript,retained_intron	uc010yju.2	nonsynonymous SNV	exon2	c.C106T	p.R36C	AEKRKESDKTGVRLSNQGSQESSLR	AEKRKESDKTGVCLSNQGSQESSLR	1.0	9.0	unscreened	-	1913_2:18768783-18768783 G>A_AEKRKESDKTGVCLSNQGSQESSLR
19:22256335-22256335 G>A	0.0	1913	MELANOMA	-	-	-	-	ZNF257	ENST00000594363,p.M65I	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000594363	nonsynonymous SNV	exon3	c.G195A	p.M65I	ITCLEQGKEPCNMKRHEMVAKPPDG	ITCLEQGKEPCNIKRHEMVAKPPDG	5.0	9.0	unscreened	-	1913_19:22256335-22256335 G>A_ITCLEQGKEPCNIKRHEMVAKPPDG
2:18768783-18768783 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1013869;OCCURENCE=1(endometrium),1(large_intestine),1(oesophagus)	-	NT5C1B,NT5C1B-RDH14	uc010yjw.2,p.R36C|NM_001199086,p.R36C	 nonsense_mediated_decay, protein_coding,protein_coding, processed_transcript,retained_intron	uc010yjw.2	nonsynonymous SNV	exon2	c.C106T	p.R36C	AEKRKESDKTGVRLSNQGHSSCRRC	AEKRKESDKTGVCLSNQGHSSCRRC	1.0	9.0	unscreened	-	1913_2:18768783-18768783 G>A_AEKRKESDKTGVCLSNQGHSSCRRC
19:55142971-55142971 C>T	0.0	1913	MELANOMA	-	-	-	-	LILRB1	ENST00000418536,p.L31F|uc002qgk.3,p.L31F|ENST00000427581,p.L67F|ENST00000396327,p.L31F|ENST00000396331,p.L31F|NM_001081638,p.L31F|NM_001081639,p.L31F|uc002qgm.3,p.L31F|ENST00000396332,p.L31F|ENST00000434867,p.L31F|NM_006669,p.L31F|ENST00000396315,p.L31F|uc002qgl.3,p.L31F|NM_001081637,p.L31F|uc002qgj.3,p.L31F|ENST00000448689,p.L31F|uc010erq.3,p.L31F|NM_001278399,p.L31F|ENST00000396321,p.L31F|ENST00000324602,p.L31F|ENST00000421584,p.L31F|ENST00000396317,p.L31F|NM_001278398,p.L31F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010erq.3	nonsynonymous SNV	exon3	c.C91T	p.L31F	THVQAGHLPKPTLWAEPGSVITQGS	THVQAGHLPKPTFWAEPGSVITQGS	1.0	4.0	unscreened	-	1913_19:55142971-55142971 C>T_THVQAGHLPKPTFWAEPGSVITQGS
2:214878677-214878677 A>C	0.0	1913	MELANOMA	-	-	-	-	SPAG16	ENST00000451561,p.E92A	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000451561	nonsynonymous SNV	exon3	c.A275C	p.E92A	TDWLSDCCFHPSERCRCTLYGHTDS	TDWLSDCCFHPSARCRCTLYGHTDS	1.0	5.0	unscreened	-	1913_2:214878677-214878677 A>C_TDWLSDCCFHPSARCRCTLYGHTDS
X:147744002-147744002 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1182158,COSM1182157;OCCURENCE=1(large_intestine)	-	AFF2	uc004fcq.3,p.P248S|uc004fcs.3,p.P248S|uc004fco.3,p.P248S|NM_001169125,p.P248S|NM_001169124,p.P252S|ENST00000370457,p.P248S|ENST00000370460,p.P252S|ENST00000370458,p.P248S|uc011mxb.2,p.P252S|uc004fcr.3,p.P248S|NM_001169123,p.P248S|NM_001169122,p.P248S|NM_002025,p.P252S|uc004fcp.3,p.P252S|ENST00000342251,p.P248S	protein_coding	uc011mxb.2	nonsynonymous SNV	exon3	c.C754T	p.P252S	EESEFAVQAPGSPLVASSLLAPSSG	EESEFAVQAPGSSLVASSLLAPSSG	1.0	9.0	unscreened	-	1913_X:147744002-147744002 C>T_EESEFAVQAPGSSLVASSLLAPSSG
3:1189709-1189709 A>T	0.0	1913	MELANOMA	-	-	-	-	CNTN6	ENST00000394261,p.E2D	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000394261	nonsynonymous SNV	exon2	c.A6T	p.E2D	METGNSAATHKLFC	MDTGNSAATHKLFC	1.0	9.0	unscreened	-	1913_3:1189709-1189709 A>T_MDTGNSAATHKLFC
1:247769807-247769807 G>A	0.0	1913	MELANOMA	-	-	-	-	OR2G3	ENST00000320002,p.G307E|uc010pyz.2,p.G307E|NM_001001914,p.G307E	protein_coding	uc010pyz.2	nonsynonymous SNV	exon1	c.G920A	p.G307E	KDMKEALRKLLSGKL	KDMKEALRKLLSEKL	1.0	1.0	unscreened	-	1913_1:247769807-247769807 G>A_KDMKEALRKLLSEKL
5:127671168-127671168 G>A	0.0	1913	MELANOMA	-	-	-	-	FBN2	NM_001999,p.P1276S|uc003kuu.3,p.P1276S|ENST00000507835,p.P126S|ENST00000508053,p.P1276S|ENST00000262464,p.P1276S|uc003kuv.2,p.P1243S|ENST00000508989,p.P1243S	retained_intron, protein_coding, processed_transcript	uc003kuv.2	nonsynonymous SNV	exon28	c.C3727T	p.P1243S	YECSCSEGYALMPDGRSCADIDECE	YECSCSEGYALMSDGRSCADIDECE	2.0	9.0	unscreened	-	1913_5:127671168-127671168 G>A_YECSCSEGYALMSDGRSCADIDECE
2:60688132-60688132 C>T	0.0	1913	MELANOMA	-	-	-	1	BCL11A	uc010ypj.2,p.E605K|uc002sad.1,p.E487K|uc002sab.3,p.E639K|NM_018014,p.E639K|ENST00000537768,p.E308K|NM_022893,p.E639K|uc002saf.1,p.E605K|ENST00000335712,p.E639K|ENST00000356842,p.E639K|ENST00000538214,p.E605K|ENST00000358510,p.E605K|uc010ypi.2,p.E308K|uc002sae.1,p.E639K	protein_coding, processed_transcript	uc010ypj.2	nonsynonymous SNV	exon3	c.G1813A	p.E605K	SSLSPFSKRIKLEKEFDLPPAAMPN	SSLSPFSKRIKLKKEFDLPPAAMPN	2.0	7.0	unscreened	-	1913_2:60688132-60688132 C>T_SSLSPFSKRIKLKKEFDLPPAAMPN
21:19628989-19628989 G>C	0.0	1913	MELANOMA	-	-	-	-	CHODL	uc021whr.1,p.E40D|uc002ykv.3,p.E81D|uc002yks.3,p.E40D|uc002yku.3,p.E40D|NM_024944,p.E81D|ENST00000543733,p.E62D|ENST00000400131,p.E40D|NM_001204176,p.E40D|NM_001204175,p.E40D|ENST00000299295,p.E81D|ENST00000400135,p.E40D|NM_001204178,p.E40D|ENST00000338326,p.E40D|NM_001204177,p.E40D|uc002ykt.3,p.E40D|uc002ykr.3,p.E40D|ENST00000400128,p.E40D|NM_001204174,p.E62D|uc021whs.1,p.E62D|ENST00000400127,p.E40D	protein_coding	uc021whs.1	nonsynonymous SNV	exon2	c.G186C	p.E62D	LSLENEAEQKLIESMLQNLTKPGTG	LSLENEAEQKLIDSMLQNLTKPGTG	1.0	7.0	unscreened	-	1913_21:19628989-19628989 G>C_LSLENEAEQKLIDSMLQNLTKPGTG
5:54327264-54327264 G>A	0.0	1913	MELANOMA	-	-	-	-	GZMK	NM_002104,p.G146R|ENST00000231009,p.G146R|uc003jpl.1,p.G146R	retained_intron, protein_coding	uc003jpl.1	nonsynonymous SNV	exon4	c.G436A	p.G146R	MLHIRSKTSLRSGTKCKVTGWGATD	MLHIRSKTSLRSRTKCKVTGWGATD	1.0	9.0	unscreened	-	1913_5:54327264-54327264 G>A_MLHIRSKTSLRSRTKCKVTGWGATD
16:51174965-51174965 G>A	0.0	1913	MELANOMA	-	-	-	-	SALL1	uc021tif.1,p.P293S|uc021tie.1,p.P390S|NM_001127892,p.P293S|ENST00000251020,p.P390S|ENST00000440970,p.P293S|uc021tid.1,p.P293S|NM_002968,p.P390S|ENST00000570206,p.P293S	protein_coding, processed_transcript	uc021tif.1	nonsynonymous SNV	exon2	c.C877T	p.P293S	FAISSLLSPASNPLLPQQASANSVF	FAISSLLSPASNSLLPQQASANSVF	1.0	2.0	unscreened	-	1913_16:51174965-51174965 G>A_FAISSLLSPASNSLLPQQASANSVF
19:22256335-22256335 G>A	0.0	1913	MELANOMA	-	-	-	-	ZNF257	uc010ecy.3,p.M33I|ENST00000594947,p.M65I|uc010ecx.3,p.M65I|NM_033468,p.M65I	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ecy.3	nonsynonymous SNV	exon4	c.G99A	p.M33I	ITCLEQGKEPCNMKRHEMVAKPPVM	ITCLEQGKEPCNIKRHEMVAKPPVM	5.0	9.0	unscreened	-	1913_19:22256335-22256335 G>A_ITCLEQGKEPCNIKRHEMVAKPPVM
4:175898331-175898331 G>A	0.0	1913	MELANOMA	-	-	-	-	ADAM29	uc011cki.2,p.G552E|NM_001130703,p.G552E|ENST00000514159,p.G552E|NM_014269,p.G552E|NM_001278126,p.G552E|NM_001130705,p.G552E|uc010irr.3,p.G552E|uc031shv.1,p.G552E|ENST00000445694,p.G552E|uc003iud.3,p.G552E|uc003iuc.3,p.G552E|ENST00000359240,p.G552E|uc031shw.1,p.G552E|uc021xuo.1,p.G552E|NM_001130704,p.G552E|NM_001278125,p.G552E|NM_001278127,p.G552E|uc031shu.1,p.G552E|ENST00000404450,p.G552E	retained_intron, protein_coding, processed_transcript	uc031shw.1	nonsynonymous SNV	exon2	c.G1655A	p.G552E	TYIKCNISDVQCGRIQCENVTEIPN	TYIKCNISDVQCERIQCENVTEIPN	1.0	9.0	unscreened	-	1913_4:175898331-175898331 G>A_TYIKCNISDVQCERIQCENVTEIPN
2:213886852-213886852 C>A	0.0	1913	MELANOMA	-	-	-	-	IKZF2	ENST00000434687,p.G193C|uc002vej.3,p.G140C|ENST00000421754,p.G167C|ENST00000457361,p.G193C|ENST00000374319,p.G167C|uc010fuv.3,p.G167C|uc002vel.3,p.G114C|uc002vem.3,p.G193C|NM_001079526,p.G167C|ENST00000413091,p.G193C|ENST00000342002,p.G199C|NM_016260,p.G193C|uc002ven.3,p.G167C|ENST00000431520,p.G193C	retained_intron, protein_coding, nonsense_mediated_decay	uc010fuv.3	nonsynonymous SNV	exon5	c.G499T	p.G167C	DALTGHLRTHSVGKPHKCNYCGRSY	DALTGHLRTHSVCKPHKCNYCGRSY	3.0	6.0	unscreened	-	1913_2:213886852-213886852 C>A_DALTGHLRTHSVCKPHKCNYCGRSY
11:99690377-99690377 G>A	0.0	1913	MELANOMA	-	-	-	-	CNTN5	NM_014361,p.R53Q|uc009ywv.2,p.R53Q|NM_001243270,p.R53Q|NM_001243271,p.R53Q|ENST00000279463,p.R53Q|ENST00000524871,p.R53Q|ENST00000528682,p.R53Q|uc021qpb.1,p.R53Q|ENST00000527185,p.R53Q|uc001pfz.3,p.R53Q|uc001pga.3,p.R53Q	retained_intron, protein_coding, processed_transcript	uc021qpb.1	nonsynonymous SNV	exon3	c.G158A	p.R53Q	SSSSLFGSKTRPRYSSPSLGTLSAS	SSSSLFGSKTRPQYSSPSLGTLSAS	1.0	1.0	unscreened	-	1913_11:99690377-99690377 G>A_SSSSLFGSKTRPQYSSPSLGTLSAS
8:69104702-69104702 G>A	0.0	1913	MELANOMA	-	-	-	1	PREX2	NM_024870,p.E1516K|uc003xxv.1,p.E1516K|ENST00000288368,p.E1516K	protein_coding, processed_transcript	uc003xxv.1	nonsynonymous SNV	exon37	c.G4546A	p.E1516K	SASGVGLLSVSSELCNRLGACHIIM	SASGVGLLSVSSKLCNRLGACHIIM	1.0	4.0	unscreened	-	1913_8:69104702-69104702 G>A_SASGVGLLSVSSKLCNRLGACHIIM
5:40947807-40947807 C>T	0.0	1913	MELANOMA	-	-	-	-	C7	uc003jmh.3,p.S281F|ENST00000313164,p.S281F|NM_000587,p.S281F	retained_intron, protein_coding, processed_transcript	uc003jmh.3	nonsynonymous SNV	exon8	c.C842T	p.S281F	FLQLAEPFWKELSHLPSLYDYSAYR	FLQLAEPFWKELFHLPSLYDYSAYR	1.0	3.0	unscreened	-	1913_5:40947807-40947807 C>T_FLQLAEPFWKELFHLPSLYDYSAYR
6:28542837-28542837 C>T	0.0	1913	MELANOMA	-	-	-	-	ZBED9	NM_052923,p.E549K|uc003nlo.3,p.E549K|ENST00000452236,p.E549K	protein_coding, processed_transcript	uc003nlo.3	nonsynonymous SNV	exon3	c.G1645A	p.E549K	TEELVASLHTENELDQADKELENTL	TEELVASLHTENKLDQADKELENTL	3.0	3.0	unscreened	-	1913_6:28542837-28542837 C>T_TEELVASLHTENKLDQADKELENTL
17:29556278-29556278 C>G	0.0	1913	MELANOMA	-	-	-	1	NF1	ENST00000579081,p.S916C|uc002hgg.3,p.S882C|ENST00000356175,p.S882C|ENST00000358273,p.S882C|uc002hgh.3,p.S882C|ENST00000456735,p.S548C|NM_001042492,p.S882C|uc010csn.2,p.S742C|NM_000267,p.S882C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010csn.2	nonsynonymous SNV	exon19	c.C2225G	p.S742C	VSERKGSMISVMSSEGNADTPVSKF	VSERKGSMISVMCSEGNADTPVSKF	6.0	9.0	unscreened	-	1913_17:29556278-29556278 C>G_VSERKGSMISVMCSEGNADTPVSKF
19:51329189-51329189 G>T	0.0	1913	MELANOMA	-	-	-	-	KLK15	ENST00000326856,p.P211T|ENST00000598239,p.P212T|NM_017509,p.P212T|uc002ptl.3,p.P212T|NM_001277081,p.P211T|uc002pto.3,p.P211T	retained_intron, protein_coding, nonsense_mediated_decay	uc002pto.3	nonsynonymous SNV	exon5	c.C631A	p.P211T	RGAESCEGDSGGPLVCGGILQGIVS	RGAESCEGDSGGTLVCGGILQGIVS	1.0	1.0	unscreened	-	1913_19:51329189-51329189 G>T_RGAESCEGDSGGTLVCGGILQGIVS
19:40433845-40433845 C>T	0.0	1913	MELANOMA	-	-	-	-	FCGBP	uc002omp.4,p.E142K|ENST00000221347,p.E142K|NM_003890,p.E142K	protein_coding, processed_transcript	uc002omp.4	nonsynonymous SNV	exon2	c.G424A	p.E142K	LTLLRPIQALGTEYFVLTPPGTSAR	LTLLRPIQALGTKYFVLTPPGTSAR	3.0	5.0	unscreened	-	1913_19:40433845-40433845 C>T_LTLLRPIQALGTKYFVLTPPGTSAR
2:132021594-132021594 G>A	0.0	1913	MELANOMA	-	-	-	-	POTEE	uc002tsl.2,p.G438S|uc002tsk.2,p.G456S|NM_001083538,p.G856S|uc010fmy.1,p.G320S|ENST00000356920,p.G856S|uc002tsn.2,p.G856S	protein_coding	uc010fmy.1	nonsynonymous SNV	exon4	c.G958A	p.G320S	TSGRTTGIVMDSGDGVTHTVPIYEG	TSGRTTGIVMDSSDGVTHTVPIYEG	1.0	4.0	unscreened	-	1913_2:132021594-132021594 G>A_TSGRTTGIVMDSSDGVTHTVPIYEG
5:145317805-145317805 A>G	0.0	1913	MELANOMA	-	-	-	-	SH3RF2	ENST00000511217,p.N105S|ENST00000359120,p.N105S|NM_152550,p.N105S|uc011dbl.1,p.N105S|uc003lnt.3,p.N105S	retained_intron, protein_coding, processed_transcript	uc011dbl.1	nonsynonymous SNV	exon1	c.A314G	p.N105S	TMTLQDGRKSRTNPRRLQASPFRLV	TMTLQDGRKSRTSPRRLQASPFRLV	1.0	1.0	unscreened	-	1913_5:145317805-145317805 A>G_TMTLQDGRKSRTSPRRLQASPFRLV
8:125103704-125103704 G>A	0.0	1913	MELANOMA	-	-	ID=COSM213582;OCCURENCE=2(large_intestine),1(breast)	-	FER1L6	uc003yqw.3,p.E1478K|NM_001039112,p.E1478K|ENST00000522917,p.E1478K|ENST00000399018,p.E1478K	protein_coding	uc003yqw.3	nonsynonymous SNV	exon34	c.G4432A	p.E1478K	GYNAWRDTSKPTEILTKLCKDNKLD	GYNAWRDTSKPTKILTKLCKDNKLD	1.0	4.0	unscreened	-	1913_8:125103704-125103704 G>A_GYNAWRDTSKPTKILTKLCKDNKLD
11:22387194-22387194 G>A	0.0	1913	MELANOMA	-	-	-	-	SLC17A6	ENST00000263160,p.E284K|NM_020346,p.E284K|uc001mqk.3,p.E284K	retained_intron, protein_coding	uc001mqk.3	nonsynonymous SNV	exon7	c.G850A	p.E284K	PTITDEERRYIEESIGESANLLGAM	PTITDEERRYIEKSIGESANLLGAM	1.0	3.0	unscreened	-	1913_11:22387194-22387194 G>A_PTITDEERRYIEKSIGESANLLGAM
1:154245864-154245866 GAA>-	0.0	1913	MELANOMA	-	-	ID=COSM1745034;OCCURENCE=1(urinary_tract)	-	HAX1	ENST00000447768,p.36_36del|uc001fes.3,p.36_36del|ENST00000328703,p.36_36del|ENST00000483970,p.36_36del|NM_006118,p.36_36del|uc010peo.2,p.36_36del	retained_intron, protein_coding, nonsense_mediated_decay	uc010peo.2	nonframeshift deletion	exon2	c.106_108del	p.36_36del	FGGMTRDEDDDEEEEEEGGSWGRGN	FGGMTRDEDDDEEEEEGGSWGRGNP	10.0	1.0	unscreened	-	1913_1:154245864-154245866 GAA>-_FGGMTRDEDDDEEEEEGGSWGRGNP
19:42507486-42507486 C>T	1.0	1913	MELANOMA	-	-	-	-	GRIK5	ENST00000593562,p.E838K|uc002osi.2,p.E410K|NM_002088,p.E838K|uc002osj.2,p.E838K|ENST00000262895,p.E838K	retained_intron, protein_coding, nonsense_mediated_decay	uc002osj.2	nonsynonymous SNV	exon18	c.G2512A	p.E838K	FIWSTRRSAESEEVSVCQEMLQELR	FIWSTRRSAESEKVSVCQEMLQELR	4.0	7.0	unscreened	-	1913_19:42507486-42507486 C>T_FIWSTRRSAESEKVSVCQEMLQELR
6:43227287-43227287 G>A	0.0	1913	MELANOMA	-	-	-	-	TTBK1	ENST00000304139,p.E372K|ENST00000259750,p.E423K|uc003ouq.1,p.E423K|NM_032538,p.E423K	protein_coding	uc003ouq.1	nonsynonymous SNV	exon12	c.G1267A	p.E423K	RINIGKSPCVEEEQSRGMGVPSSPV	RINIGKSPCVEEKQSRGMGVPSSPV	1.0	1.0	unscreened	-	1913_6:43227287-43227287 G>A_RINIGKSPCVEEKQSRGMGVPSSPV
15:89398728-89398728 G>A	0.0	1913	MELANOMA	-	-	-	-	ACAN	NM_013227,p.G971E|ENST00000352105,p.G971E|ENST00000439576,p.G971E|uc010upo.1,p.G971E|NM_001135,p.G971E|ENST00000561243,p.G971E|uc010upp.1,p.G971E|ENST00000559004,p.G971E	retained_intron, protein_coding	uc010upp.1	nonsynonymous SNV	exon12	c.G2912A	p.G971E	SGEVLETSASGVGDLSGLPSGEVLE	SGEVLETSASGVEDLSGLPSGEVLE	8.0	2.0	unscreened	-	1913_15:89398728-89398728 G>A_SGEVLETSASGVEDLSGLPSGEVLE
4:173942658-173942658 G>A	0.0	1913	MELANOMA	0.0005	-	-	-	GALNTL6	NM_001034845,p.R507Q|ENST00000508122,p.R490Q|ENST00000506823,p.R507Q|uc003isv.3,p.R507Q	protein_coding, processed_transcript	uc003isv.3	nonsynonymous SNV	exon12	c.G1520A	p.R507Q	EQLFTFGWREDIRPGEPLHTRKFCF	EQLFTFGWREDIQPGEPLHTRKFCF	1.0	9.0	unscreened	-	1913_4:173942658-173942658 G>A_EQLFTFGWREDIQPGEPLHTRKFCF
1:152280412-152280412 G>A	0.0	1913	MELANOMA	-	-	-	-	FLG	NM_002016,p.S2317L|uc001ezu.1,p.S2317L|ENST00000368799,p.S2317L	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.C6950T	p.S2317L	HHAENSSGGQAASSHEQARSSAGER	HHAENSSGGQAALSHEQARSSAGER	3.0	1.0	unscreened	-	1913_1:152280412-152280412 G>A_HHAENSSGGQAALSHEQARSSAGER
16:84203726-84203726 G>A	0.0	1913	MELANOMA	-	-	-	-	DNAAF1	uc010vnw.2,p.G195E|uc002fhl.4,p.G431E|ENST00000378553,p.G431E|NM_178452,p.G431E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc010vnw.2	nonsynonymous SNV	exon4	c.G584A	p.G195E	ETLLLSSPVEVKGEDGDGEPEGTLP	ETLLLSSPVEVKEEDGDGEPEGTLP	7.0	1.0	unscreened	-	1913_16:84203726-84203726 G>A_ETLLLSSPVEVKEEDGDGEPEGTLP
3:49689435-49689435 G>A	0.0	1913	MELANOMA	-	-	-	-	BSN	NM_003458,p.E816K|uc003cxe.4,p.E816K|ENST00000296452,p.E816K	retained_intron, protein_coding	uc003cxe.4	nonsynonymous SNV	exon5	c.G2446A	p.E816K	DDFGSQLRHDYVEDSSEGGLSPLPP	DDFGSQLRHDYVKDSSEGGLSPLPP	5.0	3.0	unscreened	-	1913_3:49689435-49689435 G>A_DDFGSQLRHDYVKDSSEGGLSPLPP
2:170097612-170097612 G>A	0.0	1913	MELANOMA	-	-	-	-	LRP2	NM_004525,p.R1311C|uc002ues.3,p.R1311C|ENST00000263816,p.R1311C|ENST00000443831,p.R1174C|uc010zdf.1,p.R1174C	retained_intron, protein_coding, processed_transcript	uc010zdf.1	nonsynonymous SNV	exon23	c.C3520T	p.R1174C	MSDEKDCPTQPFRCPSWQWQCLGHN	MSDEKDCPTQPFCCPSWQWQCLGHN	1.0	5.0	unscreened	-	1913_2:170097612-170097612 G>A_MSDEKDCPTQPFCCPSWQWQCLGHN
2:71062717-71062717 G>A	0.0	1913	MELANOMA	-	-	-	-	CD207	uc002shg.3,p.P32L|ENST00000410009,p.P32L|NM_015717,p.P32L	protein_coding	uc002shg.3	nonsynonymous SNV	exon2	c.C95T	p.P32L	SLWPREPPPKSGPSLVPGKTPTVRA	SLWPREPPPKSGLSLVPGKTPTVRA	3.0	5.0	unscreened	-	1913_2:71062717-71062717 G>A_SLWPREPPPKSGLSLVPGKTPTVRA
X:2852941-2852941 G>A	0.0	1913	MELANOMA	-	-	-	-	ARSE	uc011mhi.2,p.P514S|ENST00000545496,p.P593S|ENST00000381134,p.P568S|uc004crc.4,p.P568S|uc011mhh.2,p.P593S|ENST00000540563,p.P523S|NM_001282628,p.P593S|NM_000047,p.P568S|NM_001282631,p.P523S	protein_coding, processed_transcript	uc011mhi.2	nonsynonymous SNV	exon10	c.C1540T	p.P514S	PLQLDRLGNIWRPWLQPCCGPFPLC	PLQLDRLGNIWRSWLQPCCGPFPLC	3.0	9.0	unscreened	-	1913_X:2852941-2852941 G>A_PLQLDRLGNIWRSWLQPCCGPFPLC
12:44913862-44913862 C>T	0.0	1913	MELANOMA	-	-	-	-	NELL2	ENST00000429094,p.E776K|ENST00000452445,p.E776K|ENST00000437801,p.E826K|uc001rog.2,p.E776K|uc009zkd.2,p.E728K|ENST00000333837,p.E799K|uc001rof.3,p.E775K|uc010sla.1,p.E799K|NM_001145110,p.E799K|NM_001145108,p.E776K|ENST00000551601,p.E728K|ENST00000395487,p.E775K|NM_001145107,p.E826K|ENST00000549027,p.E775K|NM_001145109,p.E775K|NM_006159,p.E776K|uc001roh.2,p.E776K|uc010skz.1,p.E826K	retained_intron, protein_coding, processed_transcript	uc010sla.1	nonsynonymous SNV	exon20	c.G2395A	p.E799K	TIRNDITKTCLDEMNVVRFTGSSWI	TIRNDITKTCLDKMNVVRFTGSSWI	2.0	3.0	unscreened	-	1913_12:44913862-44913862 C>T_TIRNDITKTCLDKMNVVRFTGSSWI
12:7973842-7973842 A>C	0.0	1913	MELANOMA	-	-	-	-	SLC2A14	NM_001286235,p.V315G|uc001qtn.3,p.V338G|ENST00000340749,p.V315G|ENST00000539924,p.V353G|ENST00000396589,p.V338G|NM_001286236,p.V229G|uc010sgg.2,p.V229G|NM_001286237,p.V353G|uc001qtl.3,p.V315G|uc001qtm.3,p.V315G|NM_001286233,p.V338G|ENST00000542546,p.V229G|ENST00000535295,p.V229G|ENST00000431042,p.V315G|uc010sgh.2,p.V353G|uc001qtk.3,p.V338G|NM_001286234,p.V315G|ENST00000543909,p.V338G|NM_153449,p.V338G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sgh.2	nonsynonymous SNV	exon7	c.T1058G	p.V353G	QQPIYATISAGVVNTIFTLLSLFLV	QQPIYATISAGVGNTIFTLLSLFLV	4.0	3.0	unscreened	-	1913_12:7973842-7973842 A>C_QQPIYATISAGVGNTIFTLLSLFLV
19:51329189-51329189 G>T	0.0	1913	MELANOMA	-	-	-	-	KLK15	ENST00000416184,p.P127T	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000416184	nonsynonymous SNV	exon4	c.C379A	p.P127T	PARLNPQGDSGGPLVCGGILQGIVS	PARLNPQGDSGGTLVCGGILQGIVS	1.0	1.0	unscreened	-	1913_19:51329189-51329189 G>T_PARLNPQGDSGGTLVCGGILQGIVS
8:41573202-41573202 C>T	0.0	1913	MELANOMA	-	-	-	2	ANK1	uc003xoj.3,p.E524K|NM_001142446,p.E557K|NM_020475,p.E524K|NM_000037,p.E524K|ENST00000379758,p.E524K|uc003xoi.3,p.E524K|ENST00000265709,p.E557K|uc003xok.3,p.E524K|ENST00000347528,p.E524K|ENST00000289734,p.E524K|uc003xol.3,p.E524K|ENST00000352337,p.E524K|NM_020476,p.E524K|ENST00000396942,p.E524K|uc003xom.3,p.E557K|ENST00000396945,p.E524K|NM_020477,p.E524K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xom.3	nonsynonymous SNV	exon14	c.G1669A	p.E557K	REGHVETVLALLEKEASQACMTKKG	REGHVETVLALLKKEASQACMTKKG	3.0	6.0	unscreened	-	1913_8:41573202-41573202 C>T_REGHVETVLALLKKEASQACMTKKG
22:44280202-44280202 C>T	0.0	1913	MELANOMA	-	-	-	-	PNPLA5	NM_001177675,p.D211N|uc021wqw.1,p.D325N|uc003beg.3,p.D325N|ENST00000216177,p.D325N|uc021wqx.1,p.D211N|ENST00000593866,p.D211N|uc003beh.3,p.D211N|ENST00000381198,p.D211N|uc011aqc.2,p.D185N|ENST00000438734,p.D233N|ENST00000597664,p.D325N|NM_138814,p.D325N	protein_coding	uc021wqx.1	nonsynonymous SNV	exon5	c.G631A	p.D211N	ELEAALKKACTRDPSRWARFWHSGP	ELEAALKKACTRNPSRWARFWHSGP	1.0	6.0	unscreened	-	1913_22:44280202-44280202 C>T_ELEAALKKACTRNPSRWARFWHSGP
1:94564435-94564435 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1688063;OCCURENCE=1(skin)	-	ABCA4	ENST00000535735,p.A228V|uc001dqh.3,p.A228V|ENST00000370225,p.A228V|uc010otn.1,p.A228V|NM_000350,p.A228V	protein_coding, processed_transcript	uc010otn.1	nonsynonymous SNV	exon6	c.C683T	p.A228V	FSQRRGAKTVRYALCSLSQGTLQWI	FSQRRGAKTVRYVLCSLSQGTLQWI	1.0	9.0	unscreened	-	1913_1:94564435-94564435 G>A_FSQRRGAKTVRYVLCSLSQGTLQWI
16:20448482-20448482 G>A	0.0	1913	MELANOMA	-	-	-	-	ACSM5	uc002dhe.3,p.D473N|NM_017888,p.D473N|ENST00000331849,p.D473N	retained_intron, protein_coding, nonsense_mediated_decay	uc002dhe.3	nonsynonymous SNV	exon11	c.G1417A	p.D473N	KDGYFWFMGRNDDVINSSSYRIGPV	KDGYFWFMGRNDNVINSSSYRIGPV	1.0	1.0	unscreened	-	1913_16:20448482-20448482 G>A_KDGYFWFMGRNDNVINSSSYRIGPV
12:51685649-51685649 G>A	0.0	1913	MELANOMA	-	-	-	-	BIN2	ENST00000604560,p.P387L|ENST00000544402,p.P388L|NM_016293,p.P446L|uc010sng.2,p.P388L|uc001ryg.3,p.P414L|NM_001290009,p.P290L|ENST00000267012,p.P414L|NM_001290008,p.P414L|uc009zlz.3,p.P382L|NM_001290007,p.P388L|ENST00000452142,p.P382L|uc001ryh.3,p.P290L	protein_coding	uc010sng.2	nonsynonymous SNV	exon10	c.C1163T	p.P388L	KKRASIQRTSAPPSRPPPPRATASP	KKRASIQRTSAPLSRPPPPRATASP	4.0	4.0	unscreened	-	1913_12:51685649-51685649 G>A_KKRASIQRTSAPLSRPPPPRATASP
2:185802863-185802863 C>T	1.0	1913	MELANOMA	-	-	-	-	ZNF804A	NM_194250,p.P914S|uc002uph.3,p.P914S|ENST00000302277,p.P914S	protein_coding	uc002uph.3	nonsynonymous SNV	exon4	c.C2740T	p.P914S	TTSGELSDVSNDPTTSVCVASAPTK	TTSGELSDVSNDSTTSVCVASAPTK	3.0	7.0	unscreened	-	1913_2:185802863-185802863 C>T_TTSGELSDVSNDSTTSVCVASAPTK
11:92600211-92600211 C>T	0.0	1913	MELANOMA	-	-	ID=COSM933261,COSM933260,COSM933262;OCCURENCE=1(endometrium)	2	FAT3	ENST00000533797,p.S323L|ENST00000298047,p.S3988L|uc001pdj.4,p.S3988L|ENST00000409404,p.S3988L|uc001pdi.4,p.S428L|ENST00000525166,p.S3838L|NM_001008781,p.S3988L	retained_intron, protein_coding, processed_transcript	uc001pdj.4	nonsynonymous SNV	exon21	c.C11963T	p.S3988L	TQVLSGFQGCLDSVILNNNELPLQN	TQVLSGFQGCLDLVILNNNELPLQN	1.0	5.0	unscreened	-	1913_11:92600211-92600211 C>T_TQVLSGFQGCLDLVILNNNELPLQN
15:94884049-94884049 G>A	0.0	1913	MELANOMA	-	-	-	-	MCTP2	NM_001159643,p.E289K|uc002bth.4,p.E289K|uc002btg.4,p.E289K|uc002btj.3,p.E289K|uc010boj.3,p.E18K|ENST00000357742,p.E289K|ENST00000451018,p.E289K|uc010bok.3,p.E289K|NM_018349,p.E289K|uc002bti.2,p.E289K|uc010urg.1,p.E289K|ENST00000543482,p.E289K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010urg.1	nonsynonymous SNV	exon7	c.G865A	p.E289K	VILSDLELNRTTEHILKLEDPNSLE	VILSDLELNRTTKHILKLEDPNSLE	1.0	3.0	unscreened	-	1913_15:94884049-94884049 G>A_VILSDLELNRTTKHILKLEDPNSLE
11:121428032-121428032 C>T	0.0	1913	MELANOMA	-	-	-	-	SORL1	NM_003105,p.P861S|ENST00000260197,p.P861S|uc001pxx.3,p.P861S	retained_intron, protein_coding, processed_transcript	uc001pxx.3	nonsynonymous SNV	exon19	c.C2581T	p.P861S	VDAGFKKIEVANPDGDFRLTIVNSS	VDAGFKKIEVANSDGDFRLTIVNSS	3.0	9.0	unscreened	-	1913_11:121428032-121428032 C>T_VDAGFKKIEVANSDGDFRLTIVNSS
15:66262910-66262910 C>T	0.0	1913	MELANOMA	-	-	-	-	MEGF11	ENST00000409699,p.A294T|uc002apl.2,p.A219T|ENST00000395625,p.A219T|uc002apm.2,p.A294T|NM_032445,p.A294T|uc002apn.1,p.A294T|ENST00000360698,p.A294T|ENST00000422354,p.A294T|ENST00000288745,p.A219T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002apn.1	nonsynonymous SNV	exon8	c.G880A	p.A294T	QCDHVTGQCHCTAGYMGDRCQEECP	QCDHVTGQCHCTTGYMGDRCQEECP	1.0	9.0	unscreened	-	1913_15:66262910-66262910 C>T_QCDHVTGQCHCTTGYMGDRCQEECP
17:10438598-10438598 G>A	0.0	1913	MELANOMA	-	-	-	-	MYH2	NM_017534,p.P687S|NM_001100112,p.P687S|uc002gmp.4,p.P687S|ENST00000245503,p.P687S|uc010coi.3,p.P687S|ENST00000397183,p.P687S	protein_coding	uc010coi.3	nonsynonymous SNV	exon18	c.C2059T	p.P687S	FVRCIIPNETKTPGAMEHELVLHQL	FVRCIIPNETKTSGAMEHELVLHQL	1.0	4.0	unscreened	-	1913_17:10438598-10438598 G>A_FVRCIIPNETKTSGAMEHELVLHQL
3:108156483-108156483 G>T	0.0	1913	MELANOMA	-	-	-	-	MYH15	NM_014981,p.L1067M|ENST00000273353,p.L1067M|uc003dxa.1,p.L1067M	retained_intron, protein_coding, processed_transcript	uc003dxa.1	nonsynonymous SNV	exon26	c.C3199A	p.L1067M	KARMNCERELHKLEGNLKLNRESME	KARMNCERELHKMEGNLKLNRESME	1.0	1.0	unscreened	-	1913_3:108156483-108156483 G>T_KARMNCERELHKMEGNLKLNRESME
19:54394951-54394951 C>T	0.0	1913	MELANOMA	-	-	-	-	PRKCG	uc010yeg.1,p.P185S|ENST00000536044,p.P185S|uc010yeh.1,p.P72S|NM_002739,p.P185S|ENST00000542049,p.P72S|ENST00000263431,p.P185S|ENST00000540413,p.P185S|uc010yef.1,p.P185S|ENST00000474397,p.P57S|uc002qcq.1,p.P185S|uc010eqz.1,p.P185S	protein_coding	uc010yeh.1	nonsynonymous SNV	exon4	c.C214T	p.P72S	IHVTVGEARNLIPMDPNGLSDPYVK	IHVTVGEARNLISMDPNGLSDPYVK	2.0	5.0	unscreened	-	1913_19:54394951-54394951 C>T_IHVTVGEARNLISMDPNGLSDPYVK
9:107367109-107367109 G>A	0.0	1913	MELANOMA	-	-	-	-	OR13C2	ENST00000542196,p.T267I|uc011lvq.2,p.T267I|NM_001004481,p.T267I	protein_coding	uc011lvq.2	nonsynonymous SNV	exon1	c.C800T	p.T267I	ILFMYMKPKSKETLNSDDLDATDKI	ILFMYMKPKSKEILNSDDLDATDKI	1.0	9.0	unscreened	-	1913_9:107367109-107367109 G>A_ILFMYMKPKSKEILNSDDLDATDKI
5:41160391-41160391 C>T	0.0	1913	MELANOMA	-	-	-	-	C6	uc003jmk.3,p.E513K|uc003jml.2,p.E513K|ENST00000263413,p.E513K|ENST00000337836,p.E513K|NM_000065,p.E513K|NM_001115131,p.E513K	retained_intron, protein_coding, processed_transcript	uc003jml.2	nonsynonymous SNV	exon11	c.G1537A	p.E513K	VTKRNNLRKALQEYAAKFDPCQCAP	VTKRNNLRKALQKYAAKFDPCQCAP	1.0	2.0	unscreened	-	1913_5:41160391-41160391 C>T_VTKRNNLRKALQKYAAKFDPCQCAP
18:47404164-47404164 C>T	0.0	1913	MELANOMA	-	-	-	-	MYO5B	uc002leb.2,p.G1122E|NM_001080467,p.G1122E|uc002lea.2,p.G263E|ENST00000285039,p.G1122E|ENST00000324581,p.G263E	retained_intron, protein_coding, processed_transcript	uc002leb.2	nonsynonymous SNV	exon25	c.G3365A	p.G1122E	DSNYPSISTSEIGDTEDALQQVEEI	DSNYPSISTSEIEDTEDALQQVEEI	1.0	1.0	unscreened	-	1913_18:47404164-47404164 C>T_DSNYPSISTSEIEDTEDALQQVEEI
13:24465979-24465979 G>A	0.0	1913	MELANOMA	-	-	-	-	C1QTNF9B,C1QTNF9B-AS1	uc010tcw.2,p.P151S|ENST00000382137,p.P151S|uc010tcx.2,p.P151S|ENST00000382140,p.P151S|NM_001007537,p.P151S	protein_coding, processed_transcript	uc010tcx.2	nonsynonymous SNV	exon3	c.C451T	p.P151S	RGNIGPLGPTGLPGPMGPIGKPGPK	RGNIGPLGPTGLSGPMGPIGKPGPK	4.0	6.0	unscreened	-	1913_13:24465979-24465979 G>A_RGNIGPLGPTGLSGPMGPIGKPGPK
8:55541844-55541844 C>T	0.0	1913	MELANOMA	-	-	-	-	RP1	ENST00000220676,p.S1801F|uc003xsd.1,p.S1801F|NM_006269,p.S1801F	protein_coding	uc003xsd.1	nonsynonymous SNV	exon4	c.C5402T	p.S1801F	GNLAPGPTMDELSSSELEELTQPLE	GNLAPGPTMDELFSSELEELTQPLE	1.0	5.0	unscreened	-	1913_8:55541844-55541844 C>T_GNLAPGPTMDELFSSELEELTQPLE
3:183824350-183824350 G>A	0.0	1913	MELANOMA	-	-	-	-	HTR3E	ENST00000436361,p.E414K|uc003fmm.3,p.E429K|uc010hxr.3,p.E440K|NM_198314,p.E414K|ENST00000425359,p.E399K|uc010hxq.3,p.E414K|uc003fmn.3,p.E414K|NM_001256613,p.E414K|ENST00000440596,p.E440K|uc003fml.4,p.E399K|ENST00000335304,p.E429K|NM_001256614,p.E440K|NM_198313,p.E399K|NM_182589,p.E429K|ENST00000415389,p.E414K	protein_coding	uc010hxr.3	nonsynonymous SNV	exon7	c.G1318A	p.E440K	GGSEWTRAQREHEAQKQHSVELWLQ	GGSEWTRAQREHKAQKQHSVELWLQ	1.0	9.0	unscreened	-	1913_3:183824350-183824350 G>A_GGSEWTRAQREHKAQKQHSVELWLQ
14:105070987-105070987 T>A	0.0	1913	MELANOMA	-	-	-	-	TMEM179	ENST00000415614,p.N31I|ENST00000341595,p.N31I|NM_001286390,p.N31I|ENST00000556573,p.N31I|NM_001286389,p.N31I|uc001yox.1,p.N31I	protein_coding	uc001yox.1	nonsynonymous SNV	exon1	c.A92T	p.N31I	LFSFVVVVPLSENGHDFRGRCLLFT	LFSFVVVVPLSEIGHDFRGRCLLFT	1.0	4.0	unscreened	-	1913_14:105070987-105070987 T>A_LFSFVVVVPLSEIGHDFRGRCLLFT
19:48305453-48305453 G>T	0.0	1913	MELANOMA	-	-	-	-	TPRX1	ENST00000543508,p.P262Q|ENST00000535759,p.P369Q|ENST00000322175,p.P272Q|NM_198479,p.P272Q|uc002php.2,p.P272Q	protein_coding	uc002php.2	nonsynonymous SNV	exon2	c.C815A	p.P272Q	SGPGPIIGPIPSPAQIPGPGRLQGP	SGPGPIIGPIPSQAQIPGPGRLQGP	1.0	5.0	unscreened	-	1913_19:48305453-48305453 G>T_SGPGPIIGPIPSQAQIPGPGRLQGP
6:136512864-136512864 G>T	0.0	1913	MELANOMA	-	-	-	-	PDE7B	ENST00000308191,p.W413C|NM_018945,p.W413C|uc003qgp.3,p.W413C|uc003qgr.3,p.W465C	protein_coding	uc003qgr.3	nonsynonymous SNV	exon12	c.G1395T	p.W465C	NMLGHLAHNKAQWKSLLPRQHRSRG	NMLGHLAHNKAQCKSLLPRQHRSRG	1.0	7.0	unscreened	-	1913_6:136512864-136512864 G>T_NMLGHLAHNKAQCKSLLPRQHRSRG
7:138768540-138768540 G>A	1.0	1913	MELANOMA	-	-	-	-	ZC3HAV1	NM_024625,p.P228L|ENST00000464606,p.P228L|ENST00000471652,p.P228L|NM_020119,p.P228L|uc003vup.3,p.P228L|uc003vun.3,p.P228L|ENST00000242351,p.P228L	protein_coding	uc003vup.3	nonsynonymous SNV	exon3	c.C683T	p.P228L	QDICNSKHMQKNPPGPRAPSSHRRN	QDICNSKHMQKNLPGPRAPSSHRRN	7.0	4.0	unscreened	-	1913_7:138768540-138768540 G>A_QDICNSKHMQKNLPGPRAPSSHRRN
3:124165646-124165646 C>T	0.0	1913	MELANOMA	-	-	-	-	KALRN	uc003ehg.3,p.L1154F|ENST00000460856,p.L1145F|uc011bjy.1,p.L1145F|uc003ehf.1,p.L1154F|ENST00000360013,p.L1154F|NM_003947,p.L1154F|NM_001024660,p.L1154F|uc003ehh.1,p.L500F|uc010hrv.1,p.L1145F|ENST00000240874,p.L1154F	retained_intron, protein_coding, processed_transcript	uc011bjy.1	nonsynonymous SNV	exon21	c.C3433T	p.L1145F	ALDWIQETGEFYLSTHTSTGETTEE	ALDWIQETGEFYFSTHTSTGETTEE	4.0	8.0	unscreened	-	1913_3:124165646-124165646 C>T_ALDWIQETGEFYFSTHTSTGETTEE
1:153362686-153362686 C>T	0.0	1913	MELANOMA	-	-	-	-	S100A8	ENST00000368733,p.D59N|ENST00000368732,p.D59N|uc001fbs.3,p.D59N|NM_002964,p.D59N	protein_coding, processed_transcript	uc001fbs.3	nonsynonymous SNV	exon3	c.G175A	p.D59N	RKKGADVWFKELDINTDGAVNFQEF	RKKGADVWFKELNINTDGAVNFQEF	8.0	8.0	unscreened	-	1913_1:153362686-153362686 C>T_RKKGADVWFKELNINTDGAVNFQEF
17:16068445-16068445 G>A	1.0	1913	MELANOMA	-	-	-	1	NCOR1	uc002gpp.1,p.P47S|uc002gpr.3,p.P47S|ENST00000395848,p.P47S|NM_001190438,p.P47S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gpr.3	nonsynonymous SNV	exon2	c.C139T	p.P47S	QQDPAFGGKHEAPSSPISGQPCGDD	QQDPAFGGKHEASSSPISGQPCGDD	9.0	6.0	unscreened	-	1913_17:16068445-16068445 G>A_QQDPAFGGKHEASSSPISGQPCGDD
17:16068445-16068445 G>A	1.0	1913	MELANOMA	-	-	-	1	NCOR1	NM_001190440,p.P156S|NM_006311,p.P156S|ENST00000268712,p.P156S|uc002gps.2,p.P156S|uc002gpn.3,p.P156S|ENST00000411510,p.P156S|uc010cpa.2,p.P156S|ENST00000582357,p.P156S|uc002gpo.3,p.P156S|uc010cpb.2,p.P156S|uc002gpu.3,p.P156S|ENST00000395851,p.P156S|ENST00000436828,p.P156S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cpb.2	nonsynonymous SNV	exon5	c.C466T	p.P156S	KKDPAFGGKHEAPSSPISGQPCGDD	KKDPAFGGKHEASSSPISGQPCGDD	9.0	6.0	unscreened	-	1913_17:16068445-16068445 G>A_KKDPAFGGKHEASSSPISGQPCGDD
3:38936405-38936405 T>A	0.0	1913	MELANOMA	-	-	-	-	SCN11A	ENST00000450244,p.E818D|ENST00000444237,p.E818D|ENST00000456224,p.E818D|NM_014139,p.E818D|uc021wvy.1,p.E818D|ENST00000302328,p.E818D|NM_001287223,p.E818D	protein_coding	uc021wvy.1	nonsynonymous SNV	exon15	c.A2454T	p.E818D	FIALLLNSFSNEERNGNLEGEARKT	FIALLLNSFSNEDRNGNLEGEARKT	1.0	1.0	unscreened	-	1913_3:38936405-38936405 T>A_FIALLLNSFSNEDRNGNLEGEARKT
22:45258380-45258380 C>T	0.0	1913	MELANOMA	-	-	-	-	ARHGAP8,PRR5-ARHGAP8	ENST00000352766,p.P613S|uc003bfd.3,p.P613S|uc011aqj.2,p.P456S|ENST00000517296,p.P613S|NM_181334,p.P534S|uc003bfk.3,p.P403S|ENST00000361473,p.P534S|ENST00000356099,p.P403S|NM_001017526,p.P434S|ENST00000389774,p.P434S|NM_181335,p.P403S|ENST00000389773,p.P525S|uc003bfj.3,p.P434S|uc011aqi.2,p.P525S	 protein_coding, processed_transcript, nonsense_mediated_decay,retained_intron	uc011aqj.2	nonsynonymous SNV	exon13	c.C1366T	p.P456S	GLAPWEQGSRAAPLQEAVPRTQATG	GLAPWEQGSRAASLQEAVPRTQATG	1.0	6.0	unscreened	-	1913_22:45258380-45258380 C>T_GLAPWEQGSRAASLQEAVPRTQATG
3:108690248-108690248 C>T	0.0	1913	MELANOMA	-	-	-	-	MORC1	NM_014429,p.E827K|uc011bhn.2,p.E806K|ENST00000232603,p.E827K|uc003dxl.3,p.E827K|ENST00000483760,p.E806K	protein_coding	uc011bhn.2	nonsynonymous SNV	exon24	c.G2416A	p.E806K	KETVRKLKSKLREILLYFFPEHQLP	KETVRKLKSKLRKILLYFFPEHQLP	1.0	3.0	unscreened	-	1913_3:108690248-108690248 C>T_KETVRKLKSKLRKILLYFFPEHQLP
3:109049386-109049386 G>A	0.0	1913	MELANOMA	-	-	-	-	DPPA4	uc003dxq.4,p.P222S|NM_018189,p.P222S|ENST00000335658,p.P222S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003dxq.4	nonsynonymous SNV	exon5	c.C664T	p.P222S	SARARTPEAVESPQEASGVRWCVVH	SARARTPEAVESSQEASGVRWCVVH	1.0	1.0	unscreened	-	1913_3:109049386-109049386 G>A_SARARTPEAVESSQEASGVRWCVVH
19:7056572-7056572 C>T	0.0	1913	MELANOMA	-	-	-	-	MBD3L3	NM_001164425,p.A130T|uc021uns.1,p.A130T|ENST00000333843,p.A130T	protein_coding	uc021uns.1	nonsynonymous SNV	exon2	c.G388A	p.A130T	LAPGTAGESLDRAGAERVRSPLEPT	LAPGTAGESLDRTGAERVRSPLEPT	1.0	1.0	unscreened	-	1913_19:7056572-7056572 C>T_LAPGTAGESLDRTGAERVRSPLEPT
2:179669312-179669312 C>T	0.0	1913	MELANOMA	-	-	-	-	TTN	uc021vsy.2,p.G20S|uc031rqc.1,p.G20S|ENST00000589042,p.G20S|uc021vta.2,p.G20S|ENST00000360870,p.G20S|ENST00000342175,p.G20S|NM_133378,p.G20S|uc002und.3,p.G20S|uc002unb.3,p.G20S|uc021vtb.2,p.G20S|NM_001256850,p.G20S|uc021vsz.2,p.G20S|ENST00000460472,p.G20S|ENST00000591111,p.G20S|NM_001267550,p.G20S|NM_133432,p.G20S|NM_133437,p.G20S|ENST00000342992,p.G20S|NM_133379,p.G20S|ENST00000412264,p.G20S|ENST00000359218,p.G20S|NM_003319,p.G20S|uc031rqd.1,p.G20S	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon2	c.G58A	p.G20S	FTQPLQSVVVLEGSTATFEAHISGF	FTQPLQSVVVLESSTATFEAHISGF	2.0	3.0	unscreened	-	1913_2:179669312-179669312 C>T_FTQPLQSVVVLESSTATFEAHISGF
15:43820017-43820017 G>A	1.0	1913	MELANOMA	-	-	-	-	MAP1A	ENST00000300231,p.E2116K|NM_002373,p.E2116K|uc001zrt.3,p.E2116K|ENST00000382031,p.E2354K|ENST00000399453,p.E2116K	protein_coding	uc001zrt.3	nonsynonymous SNV	exon4	c.G6346A	p.E2116K	STSDSELEKGAREQPEKEAQSPSPP	STSDSELEKGARKQPEKEAQSPSPP	4.0	9.0	unscreened	-	1913_15:43820017-43820017 G>A_STSDSELEKGARKQPEKEAQSPSPP
15:90020393-90020393 G>A	0.0	1913	MELANOMA	-	-	-	-	RHCG	ENST00000544600,p.T386I|uc002bnz.2,p.T386I|ENST00000268122,p.T386I|NM_016321,p.T386I	retained_intron, protein_coding, nonsense_mediated_decay	uc002bnz.2	nonsynonymous SNV	exon8	c.C1157T	p.T386I	HSFDFQGFNGDWTARTQGKFQIYGL	HSFDFQGFNGDWIARTQGKFQIYGL	1.0	2.0	unscreened	-	1913_15:90020393-90020393 G>A_HSFDFQGFNGDWIARTQGKFQIYGL
1:152188374-152188374 C>T	0.0	1913	MELANOMA	-	-	-	-	HRNR	ENST00000368801,p.E1911K|NM_001009931,p.E1911K|uc001ezt.2,p.E1911K	protein_coding	uc001ezt.2	nonsynonymous SNV	exon3	c.G5731A	p.E1911K	QHGSRSGQSSRGEQHGSSSGSSSSY	QHGSRSGQSSRGKQHGSSSGSSSSY	1.0	1.0	unscreened	-	1913_1:152188374-152188374 C>T_QHGSRSGQSSRGKQHGSSSGSSSSY
2:96803379-96803379 G>A	0.0	1913	MELANOMA	-	-	-	-	ASTL	ENST00000342380,p.P39L|NM_001002036,p.P39L|uc010yui.2,p.P39L	retained_intron, protein_coding	uc010yui.2	nonsynonymous SNV	exon2	c.C116T	p.P39L	ASSCAGACGTSFPDGLTPEGTQASG	ASSCAGACGTSFLDGLTPEGTQASG	1.0	4.0	unscreened	-	1913_2:96803379-96803379 G>A_ASSCAGACGTSFLDGLTPEGTQASG
12:53202170-53202170 C>T	0.0	1913	MELANOMA	-	-	-	-	KRT4	NM_002272,p.G345S|uc031qhk.1,p.G345S|ENST00000551956,p.G345S|ENST00000458244,p.G325S|ENST00000293774,p.G419S	retained_intron, protein_coding, nonsense_mediated_decay	uc031qhk.1	nonsynonymous SNV	exon6	c.G1033A	p.G345S	KVQQLQISVDQHGDNLKNTKSEIAE	KVQQLQISVDQHSDNLKNTKSEIAE	1.0	1.0	unscreened	-	1913_12:53202170-53202170 C>T_KVQQLQISVDQHSDNLKNTKSEIAE
15:69238510-69238510 G>C	0.0	1913	MELANOMA	-	-	-	-	SPESP1	uc002arn.2,p.E213Q|NM_145658,p.E213Q|ENST00000310673,p.E213Q	protein_coding, processed_transcript	uc002arn.2	nonsynonymous SNV	exon2	c.G637C	p.E213Q	QLSGETAIEKPEEFGKHPESWNNDD	QLSGETAIEKPEQFGKHPESWNNDD	5.0	2.0	unscreened	-	1913_15:69238510-69238510 G>C_QLSGETAIEKPEQFGKHPESWNNDD
1:55080449-55080449 G>A	0.0	1913	MELANOMA	-	-	-	-	FAM151A	ENST00000302250,p.R167W|ENST00000371304,p.R167W|uc001cxn.3,p.R167W|NM_176782,p.R167W	protein_coding	uc001cxn.3	nonsynonymous SNV	exon4	c.C499T	p.R167W	DLLRQLTEEGKVRRPIWINADILKG	DLLRQLTEEGKVWRPIWINADILKG	1.0	9.0	unscreened	-	1913_1:55080449-55080449 G>A_DLLRQLTEEGKVWRPIWINADILKG
19:56701933-56701933 C>T	0.0	1913	MELANOMA	-	-	-	-	ZSCAN5B	uc010ygh.2,p.A251T|ENST00000586855,p.A251T|ENST00000358992,p.A251T|NM_001080456,p.A251T	protein_coding	uc010ygh.2	nonsynonymous SNV	exon4	c.G751A	p.A251T	EPQLPKSPNLVRAKEGKEPQKRASV	EPQLPKSPNLVRTKEGKEPQKRASV	1.0	7.0	unscreened	-	1913_19:56701933-56701933 C>T_EPQLPKSPNLVRTKEGKEPQKRASV
12:106461427-106461427 G>A	0.0	1913	MELANOMA	-	-	-	-	NUAK1	NM_014840,p.S380F|ENST00000261402,p.S380F|uc001tlj.1,p.S380F|ENST00000553094,p.S95F	protein_coding	uc001tlj.1	nonsynonymous SNV	exon7	c.C1139T	p.S380F	LKKSKKENDFAQSGQDAVPESPSKL	LKKSKKENDFAQFGQDAVPESPSKL	4.0	2.0	unscreened	-	1913_12:106461427-106461427 G>A_LKKSKKENDFAQFGQDAVPESPSKL
16:9892239-9892239 C>T	0.0	1913	MELANOMA	-	-	-	1	GRIN2A	ENST00000330684,p.G751R|ENST00000396573,p.G751R|NM_001134408,p.G751R|ENST00000535259,p.G594R|ENST00000562109,p.G751R|ENST00000404927,p.G751R|ENST00000396575,p.G751R|NM_001134407,p.G751R|uc002czo.4,p.G751R|uc010uyn.2,p.G594R|uc010uym.2,p.G751R|NM_000833,p.G751R|uc002czr.4,p.G751R	retained_intron, protein_coding, processed_transcript	uc010uyn.2	nonsynonymous SNV	exon10	c.G1780A	p.G594R	AGRDEGCKLVTIGSGYIFATTGYGI	AGRDEGCKLVTIRSGYIFATTGYGI	1.0	3.0	unscreened	-	1913_16:9892239-9892239 C>T_AGRDEGCKLVTIRSGYIFATTGYGI
7:141750519-141750519 C>T	0.0	1913	MELANOMA	-	-	-	-	MGAM	uc003vwy.3,p.S887L|ENST00000475668,p.S887L|ENST00000549489,p.S887L|NM_004668,p.S887L	retained_intron, protein_coding, processed_transcript	uc003vwy.3	nonsynonymous SNV	exon24	c.C2660T	p.S887L	FSVTQNRLEVNISQSTYKDPNNLAF	FSVTQNRLEVNILQSTYKDPNNLAF	4.0	5.0	unscreened	-	1913_7:141750519-141750519 C>T_FSVTQNRLEVNILQSTYKDPNNLAF
12:278181-278181 G>A	0.0	1913	MELANOMA	-	-	-	-	IQSEC3	ENST00000382841,p.E689K|ENST00000326261,p.E992K|uc001qhu.1,p.E689K|NM_015232,p.E689K|uc001qhw.2,p.E992K|ENST00000538872,p.E992K|NM_001170738,p.E992K	retained_intron, protein_coding, processed_transcript	uc001qhw.2	nonsynonymous SNV	exon12	c.G2974A	p.E992K	EVTELEQIRIEWELEKQQGTKTLSF	EVTELEQIRIEWKLEKQQGTKTLSF	1.0	2.0	unscreened	-	1913_12:278181-278181 G>A_EVTELEQIRIEWKLEKQQGTKTLSF
6:110746101-110746101 G>A	1.0	1913	MELANOMA	-	-	-	-	SLC22A16	ENST00000368919,p.P570L|uc003pue.3,p.P551L|ENST00000330550,p.P536L|NM_033125,p.P570L|uc003puf.3,p.P570L	protein_coding, processed_transcript	uc003puf.3	nonsynonymous SNV	exon8	c.C1709T	p.P570L	NNSGLEKTEAITPRDSGLGE	NNSGLEKTEAITLRDSGLGE	1.0	8.0	unscreened	-	1913_6:110746101-110746101 G>A_NNSGLEKTEAITLRDSGLGE
12:101603623-101603623 C>T	0.0	1913	MELANOMA	-	-	-	-	SLC5A8	ENST00000536262,p.D2N|uc001thz.4,p.D2N|NM_145913,p.D2N	protein_coding	uc001thz.4	nonsynonymous SNV	exon1	c.G4A	p.D2N	MDTPRGIGTFVVWD	MNTPRGIGTFVVWD	1.0	1.0	unscreened	-	1913_12:101603623-101603623 C>T_MNTPRGIGTFVVWD
X:73964111-73964111 G>A	0.0	1913	MELANOMA	-	-	-	-	KIAA2022	ENST00000055682,p.A94V|uc004eby.3,p.A94V|NM_001008537,p.A94V|ENST00000373468,p.A94V	protein_coding	uc004eby.3	nonsynonymous SNV	exon3	c.C281T	p.A94V	GLIEAPEHAANSASVNAISLTSGIA	GLIEAPEHAANSVSVNAISLTSGIA	1.0	9.0	unscreened	-	1913_X:73964111-73964111 G>A_GLIEAPEHAANSVSVNAISLTSGIA
10:26432446-26432446 A>T	0.0	1913	MELANOMA	-	-	-	-	MYO3A	NM_017433,p.M778L|ENST00000265944,p.M778L|uc001isn.2,p.M778L|uc009xko.1,p.M778L	protein_coding, processed_transcript	uc009xko.1	nonsynonymous SNV	exon21	c.A2332T	p.M778L	VIEYEDNWPLLDMFLQKPMGLLSLL	VIEYEDNWPLLDLFLQKPMGLLSLL	1.0	5.0	unscreened	-	1913_10:26432446-26432446 A>T_VIEYEDNWPLLDLFLQKPMGLLSLL
6:12294317-12294317 G>A	0.0	1913	MELANOMA	-	-	-	-	EDN1	NM_001955,p.G126E|uc003nad.3,p.G126E|ENST00000379375,p.G126E|uc003naf.4,p.G125E|uc003nae.4,p.G126E|NM_001168319,p.G125E	protein_coding	uc003naf.4	nonsynonymous SNV	exon3	c.G374A	p.G125E	QKDKKCWNFCQAGKELRAEDIMEKD	QKDKKCWNFCQAEKELRAEDIMEKD	1.0	8.0	unscreened	-	1913_6:12294317-12294317 G>A_QKDKKCWNFCQAEKELRAEDIMEKD
X:153881595-153881595 A>C	0.0	1913	MELANOMA	-	-	-	-	CTAG2	uc004fmi.2,p.H65Q|ENST00000369585,p.H65Q|uc004fmh.2,p.H65Q|NM_172377,p.H65Q|ENST00000247306,p.H65Q|NM_020994,p.H65Q	protein_coding	uc004fmi.2	nonsynonymous SNV	exon1	c.T195G	p.H65Q	ASGPRGGAPRGPHGGAASAQDGRCP	ASGPRGGAPRGPQGGAASAQDGRCP	1.0	9.0	unscreened	-	1913_X:153881595-153881595 A>C_ASGPRGGAPRGPQGGAASAQDGRCP
10:134743108-134743108 G>A	0.0	1913	MELANOMA	-	-	-	-	CFAP46	ENST00000368585,p.P356L|uc001llt.3,p.P356L	retained_intron, protein_coding	uc001llt.3	nonsynonymous SNV	exon9	c.C1067T	p.P356L	RQRKEEQFTRPRPPGLRSVVGTLPS	RQRKEEQFTRPRLPGLRSVVGTLPS	1.0	3.0	unscreened	-	1913_10:134743108-134743108 G>A_RQRKEEQFTRPRLPGLRSVVGTLPS
12:130648609-130648609 G>A	0.0	1913	MELANOMA	-	-	-	-	FZD10	ENST00000539839,p.G342S	protein_coding	ENST00000539839	nonsynonymous SNV	exon1	c.G1024A	p.G342S	GGEDHPDPGHAQGGGGRAHRGLLRG	GGEDHPDPGHAQSGGGRAHRGLLRG	1.0	1.0	unscreened	-	1913_12:130648609-130648609 G>A_GGEDHPDPGHAQSGGGRAHRGLLRG
17:7673935-7673935 G>A	0.0	1913	MELANOMA	-	-	-	-	DNAH2	ENST00000572933,p.D1387N|ENST00000389173,p.D1387N|uc002giu.1,p.D1387N|NM_020877,p.D1387N	retained_intron, protein_coding, nonsense_mediated_decay	uc002giu.1	nonsynonymous SNV	exon25	c.G4159A	p.D1387N	WDVTQLDIVPYKDKGHHRLRGTEEV	WDVTQLDIVPYKNKGHHRLRGTEEV	1.0	9.0	unscreened	-	1913_17:7673935-7673935 G>A_WDVTQLDIVPYKNKGHHRLRGTEEV
1:220986732-220986732 G>A	0.0	1913	MELANOMA	-	-	-	-	MARC1	uc001hms.3,p.G329E|uc001hmt.3,p.G346E|ENST00000366910,p.G329E|NM_022746,p.G329E	protein_coding, processed_transcript, nonsense_mediated_decay	uc001hmt.3	nonsynonymous SNV	exon7	c.G1037A	p.G346E	YFVLENPGTIKVGDPVYLLGQ	YFVLENPGTIKVEDPVYLLGQ	1.0	4.0	unscreened	-	1913_1:220986732-220986732 G>A_YFVLENPGTIKVEDPVYLLGQ
10:108371679-108371679 G>A	0.0	1913	MELANOMA	-	-	-	-	SORCS1	uc001kyn.2,p.S1008F|NM_052918,p.S1008F|ENST00000369698,p.S543F|NM_001206569,p.S1008F|NM_001206571,p.S1008F|ENST00000344440,p.S1008F|uc021pxw.1,p.S1008F|uc009xxs.3,p.S1008F|uc001kym.3,p.S1008F|uc001kyl.3,p.S1008F|ENST00000263054,p.S1008F|NM_001013031,p.S1008F|NM_001206572,p.S1008F|uc001kyo.3,p.S1008F|NM_001206570,p.S1008F	protein_coding, processed_transcript	uc021pxw.1	nonsynonymous SNV	exon22	c.C3023T	p.S1008F	EWRRDIGRVIKKSLVEATGVPGQHI	EWRRDIGRVIKKFLVEATGVPGQHI	1.0	6.0	unscreened	-	1913_10:108371679-108371679 G>A_EWRRDIGRVIKKFLVEATGVPGQHI
20:3675480-3675480 C>T	0.0	1913	MELANOMA	-	-	-	-	SIGLEC1	uc002wja.3,p.G925E|ENST00000202578,p.G925E|uc002wiz.4,p.G925E|ENST00000344754,p.G925E|NM_023068,p.G925E	protein_coding	uc002wja.3	nonsynonymous SNV	exon11	c.G2774A	p.G925E	VLSCQVHTGVPEGTSYRWYRDGQPL	VLSCQVHTGVPEETSYRWYRDGQPL	1.0	6.0	unscreened	-	1913_20:3675480-3675480 C>T_VLSCQVHTGVPEETSYRWYRDGQPL
7:140221716-140221716 C>T	0.0	1913	MELANOMA	-	-	-	-	DENND2A	NM_015689,p.M950I|ENST00000537639,p.M950I|ENST00000275884,p.M950I|uc003vvw.3,p.M950I|ENST00000496613,p.M950I|uc010lnk.3,p.M950I|uc010lnj.3,p.M950I	protein_coding, nonsense_mediated_decay	uc010lnk.3	nonsynonymous SNV	exon18	c.G2850A	p.M950I	SSKSLRHFLEVFMETQMFRGFIQER	SSKSLRHFLEVFIETQMFRGFIQER	2.0	5.0	unscreened	-	1913_7:140221716-140221716 C>T_SSKSLRHFLEVFIETQMFRGFIQER
1:169697344-169697344 C>T	0.0	1913	MELANOMA	-	-	-	-	SELE	ENST00000367782,p.M378I|NM_000450,p.M378I|ENST00000367777,p.M378I|ENST00000333360,p.M378I|uc001ggm.4,p.M378I	protein_coding, processed_transcript	uc001ggm.4	nonsynonymous SNV	exon8	c.G1134A	p.M378I	QCTALSNPERGYMNCLPSASGSFRY	QCTALSNPERGYINCLPSASGSFRY	1.0	2.0	unscreened	-	1913_1:169697344-169697344 C>T_QCTALSNPERGYINCLPSASGSFRY
3:38938565-38938565 C>G	0.0	1913	MELANOMA	-	-	-	-	SCN11A	ENST00000456224,p.R725P|ENST00000444237,p.R725P|ENST00000450244,p.R725P|ENST00000302328,p.R725P|NM_001287223,p.R725P|NM_014139,p.R725P|uc021wvy.1,p.R725P	protein_coding	uc021wvy.1	nonsynonymous SNV	exon14	c.G2174C	p.R725P	FIFSVVGMQLFGRSFNSQKSPKLCN	FIFSVVGMQLFGPSFNSQKSPKLCN	1.0	9.0	unscreened	-	1913_3:38938565-38938565 C>G_FIFSVVGMQLFGPSFNSQKSPKLCN
14:86088580-86088580 C>T	0.0	1913	MELANOMA	-	-	ID=COSM958378;OCCURENCE=2(endometrium)	-	FLRT2	uc021rxf.1,p.S241L|uc001xvr.3,p.S241L|ENST00000330753,p.S241L|NM_013231,p.S241L|ENST00000554746,p.S241L|uc010atd.3,p.S241L	retained_intron, protein_coding, processed_transcript	uc021rxf.1	nonsynonymous SNV	exon1	c.C722T	p.S241L	LTKLKEFSIVRNSLSHPPPDLPGTH	LTKLKEFSIVRNLLSHPPPDLPGTH	1.0	4.0	unscreened	-	1913_14:86088580-86088580 C>T_LTKLKEFSIVRNLLSHPPPDLPGTH
8:3081290-3081290 T>A	0.0	1913	MELANOMA	-	-	-	-	CSMD1	ENST00000539096,p.K1482I|uc003wqe.3,p.K639I|uc011kwj.2,p.K875I|ENST00000542608,p.K1482I|ENST00000520002,p.K1483I|ENST00000400186,p.K1483I|uc022aqr.1,p.K1482I|ENST00000602557,p.K1483I|ENST00000602723,p.K1483I|NM_033225,p.K1482I|ENST00000537824,p.K1482I	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon28	c.A4445T	p.K1482I	PYPPGKECDWRVKVNPDFVIALIFK	PYPPGKECDWRVIVNPDFVIALIFK	1.0	7.0	unscreened	-	1913_8:3081290-3081290 T>A_PYPPGKECDWRVIVNPDFVIALIFK
19:51920336-51920336 C>T	0.0	1913	MELANOMA	-	-	-	-	SIGLEC10	uc010ycz.2,p.G141R|ENST00000436984,p.G141R|NM_001171158,p.G141R	retained_intron, protein_coding	uc010ycz.2	nonsynonymous SNV	exon2	c.G421A	p.G141R	NFMNDGFFLKVTGTKPTTSHFSVLS	NFMNDGFFLKVTRTKPTTSHFSVLS	3.0	7.0	unscreened	-	1913_19:51920336-51920336 C>T_NFMNDGFFLKVTRTKPTTSHFSVLS
1:202097245-202097245 G>A	0.0	1913	MELANOMA	-	-	-	-	GPR37L1	NM_004767,p.R336Q|ENST00000367282,p.R336Q|uc001gxj.3,p.R336Q	protein_coding	uc001gxj.3	nonsynonymous SNV	exon2	c.G1007A	p.R336Q	FTVTCQLVTWRVRGPPGRKSECRAS	FTVTCQLVTWRVQGPPGRKSECRAS	1.0	2.0	unscreened	-	1913_1:202097245-202097245 G>A_FTVTCQLVTWRVQGPPGRKSECRAS
8:11994845-11994845 C>T	0.0	1913	MELANOMA	-	-	-	-	USP17L2	ENST00000333796,p.M475I|uc003wvc.1,p.M475I|NM_201402,p.M475I	protein_coding	uc003wvc.1	nonsynonymous SNV	exon1	c.G1425A	p.M475I	VLVIHQSKYKCGMKNHHPEQQSSLL	VLVIHQSKYKCGIKNHHPEQQSSLL	1.0	1.0	unscreened	-	1913_8:11994845-11994845 C>T_VLVIHQSKYKCGIKNHHPEQQSSLL
20:36937403-36937403 C>T	0.0	1913	MELANOMA	-	-	ID=COSM3736907;OCCURENCE=1(skin)	-	BPI	uc002xib.2,p.S110F|ENST00000262865,p.S110F|NM_001725,p.S110F	protein_coding, processed_transcript	uc002xib.2	nonsynonymous SNV	exon3	c.C329T	p.S110F	QISMVPNVGLKFSISNANIKISGKW	QISMVPNVGLKFFISNANIKISGKW	1.0	6.0	unscreened	-	1913_20:36937403-36937403 C>T_QISMVPNVGLKFFISNANIKISGKW
15:75122474-75122474 G>A	0.0	1913	MELANOMA	-	-	-	-	CPLX3	uc002ayu.1,p.E86K|ENST00000395018,p.E86K|NM_001030005,p.E86K	protein_coding	uc002ayu.1	nonsynonymous SNV	exon3	c.G256A	p.E86K	SHFRDKYRLPKNETDESQIQMAGGD	SHFRDKYRLPKNKTDESQIQMAGGD	1.0	8.0	unscreened	-	1913_15:75122474-75122474 G>A_SHFRDKYRLPKNKTDESQIQMAGGD
19:36530400-36530400 G>T	1.0	1913	MELANOMA	-	-	-	-	THAP8	uc002oda.1,p.A166D|uc031rki.1,p.A166D|ENST00000292894,p.A166D|NM_152658,p.A166D|ENST00000538849,p.A21D|uc010xtb.1,p.A123D	protein_coding, processed_transcript, nonsense_mediated_decay	uc031rki.1	nonsynonymous SNV	exon3	c.C497A	p.A166D	APTPERSQPEVPAQQAQTGLGPVLG	APTPERSQPEVPDQQAQTGLGPVLG	7.0	2.0	unscreened	-	1913_19:36530400-36530400 G>T_APTPERSQPEVPDQQAQTGLGPVLG
19:42507486-42507486 C>T	1.0	1913	MELANOMA	-	-	-	-	GRIK5	ENST00000301218,p.E838K|NM_001301030,p.E838K	retained_intron, protein_coding, nonsense_mediated_decay	NM_001301030	nonsynonymous SNV	exon18	c.G2512A	p.E838K	FIWSTRRSAESEETPALHPAACQCS	FIWSTRRSAESEKTPALHPAACQCS	4.0	7.0	unscreened	-	1913_19:42507486-42507486 C>T_FIWSTRRSAESEKTPALHPAACQCS
6:72892112-72892112 G>T	0.0	1913	MELANOMA	-	-	-	-	RIMS1	ENST00000522291,p.R313M|ENST00000521978,p.R313M|ENST00000520567,p.R313M|uc003pga.4,p.R313M|NM_014989,p.R313M|ENST00000491071,p.R313M|ENST00000348717,p.R313M|ENST00000518273,p.R313M|ENST00000264839,p.R313M|ENST00000517960,p.R313M	retained_intron, protein_coding, processed_transcript	uc003pga.4	nonsynonymous SNV	exon6	c.G938T	p.R313M	VEGAVEERERKERRESRRLEKGRSQ	VEGAVEERERKEMRESRRLEKGRSQ	1.0	1.0	unscreened	-	1913_6:72892112-72892112 G>T_VEGAVEERERKEMRESRRLEKGRSQ
5:140255616-140255616 G>A	0.0	1913	MELANOMA	-	-	-	-	PCDHA12	NM_018903,p.D187N|ENST00000398631,p.D187N|uc011daf.2,p.D187N|NM_031864,p.D187N|uc003lic.2,p.D187N	protein_coding	uc011daf.2	nonsynonymous SNV	exon1	c.G559A	p.D187N	NENFELKIKTKKDKSILPELVLRKL	NENFELKIKTKKNKSILPELVLRKL	1.0	1.0	unscreened	-	1913_5:140255616-140255616 G>A_NENFELKIKTKKNKSILPELVLRKL
16:89713701-89713701 G>C	1.0	1913	MELANOMA	-	-	-	-	CHMP1A	ENST00000253475,p.Q91E|uc002fnv.4,p.Q91E|NM_001083314,p.Q91E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002fnv.4	nonsynonymous SNV	exon4	c.C271G	p.Q91E	DQEYGPGDQSPGQGPEHHGPAEGLL	DQEYGPGDQSPGEGPEHHGPAEGLL	9.0	9.0	unscreened	-	1913_16:89713701-89713701 G>C_DQEYGPGDQSPGEGPEHHGPAEGLL
12:11420522-11420522 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1586227;OCCURENCE=1(endometrium)	-	PRB3	ENST00000538488,p.R200C	retained_intron, protein_coding, processed_transcript, polymorphic_pseudogene	ENST00000538488	nonsynonymous SNV	exon4	c.C598T	p.R200C	PQGGNQSQGPPPRPGKPEGPPPQGG	PQGGNQSQGPPPCPGKPEGPPPQGG	1.0	1.0	unscreened	-	1913_12:11420522-11420522 G>A_PQGGNQSQGPPPCPGKPEGPPPQGG
12:11420522-11420522 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1586227;OCCURENCE=1(endometrium)	-	PRB3	uc001qzs.3,p.R221C|NM_006249,p.R221C	retained_intron, protein_coding, processed_transcript, polymorphic_pseudogene	uc001qzs.3	nonsynonymous SNV	exon3	c.C661T	p.R221C	PQGGNQSQGPPPRPGKPEGPPSQGG	PQGGNQSQGPPPCPGKPEGPPSQGG	1.0	1.0	unscreened	-	1913_12:11420522-11420522 G>A_PQGGNQSQGPPPCPGKPEGPPSQGG
12:11420585-11420585 G>A	0.0	1913	MELANOMA	-	-	ID=COSM935452,COSM1152455;OCCURENCE=1(breast),3(endometrium)	-	PRB3	ENST00000381842,p.R200C|uc001qzs.3,p.R200C|ENST00000538488,p.R179C|NM_006249,p.R200C	retained_intron, protein_coding, processed_transcript, polymorphic_pseudogene	uc001qzs.3	nonsynonymous SNV	exon3	c.C598T	p.R200C	PQGGNQSQGPPPRPGKPEGPPPQGG	PQGGNQSQGPPPCPGKPEGPPPQGG	1.0	1.0	unscreened	-	1913_12:11420585-11420585 G>A_PQGGNQSQGPPPCPGKPEGPPPQGG
10:82182260-82182260 G>A	0.0	1913	MELANOMA	-	-	-	-	FAM213A	uc001kcf.4,p.R89Q|uc001kcd.4,p.R78Q|NM_032333,p.R89Q|NM_001243780,p.R89Q|uc021puy.1,p.R85Q|ENST00000372188,p.R89Q|ENST00000372181,p.R89Q|uc001kcc.4,p.R89Q|NM_001243779,p.R89Q|NM_001243778,p.R89Q|NM_001243782,p.R85Q|uc001kce.4,p.R89Q|ENST00000372185,p.R78Q|ENST00000372187,p.R89Q|uc021pux.1,p.R89Q|NM_001243781,p.R78Q	protein_coding	uc021puy.1	nonsynonymous SNV	exon3	c.G254A	p.R85Q	IMAVRRPGCFLCREEAADLSSLKSM	IMAVRRPGCFLCQEEAADLSSLKSM	1.0	6.0	unscreened	-	1913_10:82182260-82182260 G>A_IMAVRRPGCFLCQEEAADLSSLKSM
14:71197366-71197366 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1370854;OCCURENCE=1(large_intestine)	-	MAP3K9	NM_033141,p.R1030C|NM_001284231,p.R792C|NM_001284232,p.R749C|ENST00000555993,p.R1030C|ENST00000381250,p.R993C|ENST00000554752,p.R1016C|uc001xmm.3,p.R1016C|uc001xml.3,p.R1030C|uc010ttk.2,p.R744C|NM_001284230,p.R1016C|ENST00000553414,p.R749C|uc001xmk.3,p.R749C|ENST00000554146,p.R744C	retained_intron, protein_coding	uc010ttk.2	nonsynonymous SNV	exon12	c.C2230T	p.R744C	LDPWWFVSPSHARSTSPANSSSTET	LDPWWFVSPSHACSTSPANSSSTET	1.0	9.0	unscreened	-	1913_14:71197366-71197366 G>A_LDPWWFVSPSHACSTSPANSSSTET
2:170022487-170022487 C>T	0.0	1913	MELANOMA	-	-	-	-	LRP2	uc002ues.3,p.G3905S|NM_004525,p.G3905S|ENST00000263816,p.G3905S	retained_intron, protein_coding, processed_transcript	uc002ues.3	nonsynonymous SNV	exon62	c.G11713A	p.G3905S	NNRCIYSHEVCNGVDDCGDGTDETE	NNRCIYSHEVCNSVDDCGDGTDETE	1.0	5.0	unscreened	-	1913_2:170022487-170022487 C>T_NNRCIYSHEVCNSVDDCGDGTDETE
19:42133282-42133282 C>T	0.0	1913	MELANOMA	-	-	-	-	CEACAM4	NM_001817,p.G17E|uc010xwd.1,p.G17E|ENST00000221954,p.G17E|ENST00000600925,p.G17E|uc002orh.1,p.G17E	retained_intron, protein_coding	uc010xwd.1	nonsynonymous SNV	exon1	c.G50A	p.G17E	SAAPRGGHRPWQGLLITASLLTFWH	SAAPRGGHRPWQELLITASLLTFWH	3.0	7.0	unscreened	-	1913_19:42133282-42133282 C>T_SAAPRGGHRPWQELLITASLLTFWH
2:141294266-141294266 G>A	0.0	1913	MELANOMA	-	-	-	1	LRP1B	NM_018557,p.S2509F|ENST00000389484,p.S2509F|uc002tvj.1,p.S2509F	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon46	c.C7526T	p.S2509F	LLEDNRCVTKNSSCNAYSEFECGNG	LLEDNRCVTKNSFCNAYSEFECGNG	3.0	3.0	unscreened	-	1913_2:141294266-141294266 G>A_LLEDNRCVTKNSFCNAYSEFECGNG
19:9017514-9017514 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1722279;OCCURENCE=2(NS)	2	MUC16	ENST00000397910,p.E12604K|NM_024690,p.E12604K|uc002mkp.3,p.E12604K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon26	c.G37810A	p.E12604K	LYSGCRLTLLRSEKDGAATGVDAIC	LYSGCRLTLLRSKKDGAATGVDAIC	1.0	8.0	unscreened	-	1913_19:9017514-9017514 C>T_LYSGCRLTLLRSKKDGAATGVDAIC
2:37473210-37473210 G>A	1.0	1913	MELANOMA	-	-	-	-	NDUFAF7	ENST00000336237,p.D172N|uc010ynl.2,p.D243N|uc010ynk.2,p.D199N|ENST00000439218,p.D228N|uc002rqa.4,p.D270N|ENST00000002125,p.D270N|NM_144736,p.D270N|NM_001083946,p.D172N|ENST00000431821,p.D191N|uc002rqc.4,p.D172N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ynl.2	nonsynonymous SNV	exon7	c.G727A	p.D243N	PAEAFIQHDETRDHVEVCPDAGVII	PAEAFIQHDETRNHVEVCPDAGVII	8.0	6.0	unscreened	-	1913_2:37473210-37473210 G>A_PAEAFIQHDETRNHVEVCPDAGVII
1:196876487-196876487 G>A	0.0	1913	MELANOMA	-	-	-	-	CFHR4	NM_001201550,p.G220R|NM_001201551,p.G219R|uc001gtp.3,p.G220R|uc009wyy.3,p.G219R|ENST00000367416,p.G219R	protein_coding	uc009wyy.3	nonsynonymous SNV	exon5	c.G655A	p.G219R	SENCGPPPPISNGDTTSFPQKVYLP	SENCGPPPPISNRDTTSFPQKVYLP	1.0	4.0	unscreened	-	1913_1:196876487-196876487 G>A_SENCGPPPPISNRDTTSFPQKVYLP
3:97888234-97888234 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1693066;OCCURENCE=1(skin)	-	OR5H15	uc011bgu.2,p.D231N|NM_001005515,p.D231N|ENST00000356526,p.D231N	protein_coding	uc011bgu.2	nonsynonymous SNV	exon1	c.G691A	p.D231N	TFVLFTVLEKKSDKGVRKAFSTCGA	TFVLFTVLEKKSNKGVRKAFSTCGA	1.0	3.0	unscreened	-	1913_3:97888234-97888234 G>A_TFVLFTVLEKKSNKGVRKAFSTCGA
8:87616402-87616402 C>T	0.0	1913	MELANOMA	-	-	-	-	CNGB3	ENST00000320005,p.G567E|uc003ydx.3,p.G567E|uc010maj.3,p.G429E|NM_019098,p.G567E	protein_coding, processed_transcript	uc010maj.3	nonsynonymous SNV	exon12	c.G1286A	p.G429E	GEIGKEMYIIKHGEVQVLGGPDGTK	GEIGKEMYIIKHEEVQVLGGPDGTK	1.0	4.0	unscreened	-	1913_8:87616402-87616402 C>T_GEIGKEMYIIKHEEVQVLGGPDGTK
1:157490337-157490337 C>T	0.0	1913	MELANOMA	-	-	-	-	FCRL5	ENST00000361835,p.G839E|NM_031281,p.G839E|uc009wsm.3,p.G839E|uc001fqu.3,p.G839E|NM_001195388,p.G839E|ENST00000356953,p.G839E	protein_coding, processed_transcript	uc009wsm.3	nonsynonymous SNV	exon12	c.G2516A	p.G839E	AQRSETVTLYITGLTANRSGPFATG	AQRSETVTLYITELTANRSGPFATG	1.0	5.0	unscreened	-	1913_1:157490337-157490337 C>T_AQRSETVTLYITELTANRSGPFATG
17:80333209-80333209 G>A	0.0	1913	MELANOMA	-	-	-	-	UTS2R	NM_018949,p.G337R|ENST00000313135,p.G337R|uc010wvl.2,p.G337R	protein_coding	uc010wvl.2	nonsynonymous SNV	exon1	c.G1009A	p.G337R	HLRGRVRGPGSGGGRGPVPSLQPRA	HLRGRVRGPGSGRGRGPVPSLQPRA	1.0	7.0	unscreened	-	1913_17:80333209-80333209 G>A_HLRGRVRGPGSGRGRGPVPSLQPRA
5:35968221-35968221 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1695599;OCCURENCE=1(skin)	-	UGT3A1	ENST00000503189,p.E71K|uc003jjy.2,p.E17K|ENST00000333811,p.E17K|ENST00000274278,p.E71K|uc011coq.2,p.E71K|NM_001171873,p.E17K|uc003jjv.2,p.E71K|NM_152404,p.E71K	protein_coding, processed_transcript, nonsense_mediated_decay	uc011coq.2	nonsynonymous SNV	exon3	c.G211A	p.E71K	SGKFLIPDIKEEEKSYQVIRWFSPE	SGKFLIPDIKEEKKSYQVIRWFSPE	2.0	1.0	unscreened	-	1913_5:35968221-35968221 C>T_SGKFLIPDIKEEKKSYQVIRWFSPE
18:28918385-28918385 G>A	0.0	1913	MELANOMA	-	-	-	-	DSG1	uc002kwp.3,p.G458E|ENST00000257192,p.G458E|NM_001942,p.G458E	protein_coding	uc002kwp.3	nonsynonymous SNV	exon10	c.G1373A	p.G458E	NKVTKEQYNMLGGKYQGTILSIDDN	NKVTKEQYNMLGEKYQGTILSIDDN	1.0	9.0	unscreened	-	1913_18:28918385-28918385 G>A_NKVTKEQYNMLGEKYQGTILSIDDN
11:85435333-85435333 C>T	0.0	1913	MELANOMA	-	-	-	-	SYTL2	ENST00000525423,p.G723R|ENST00000530351,p.G142R|uc001pbd.3,p.G723R|ENST00000389959,p.G723R|ENST00000359152,p.G1247R|ENST00000354566,p.G723R|uc001pbb.3,p.G723R|uc001pbc.3,p.G723R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001pbd.3	nonsynonymous SNV	exon1	c.G2167A	p.G723R	TVTPPEDRDSESGVAGGQGTLQEPG	TVTPPEDRDSESRVAGGQGTLQEPG	9.0	7.0	unscreened	-	1913_11:85435333-85435333 C>T_TVTPPEDRDSESRVAGGQGTLQEPG
10:99349932-99349932 C>T	0.0	1913	MELANOMA	-	-	-	-	C10orf62	NM_001009997,p.S93F|ENST00000370640,p.S93F|uc001koa.3,p.S93F	protein_coding	uc001koa.3	nonsynonymous SNV	exon1	c.C278T	p.S93F	RHGEVGSALHRESFTSRQKTSGPSV	RHGEVGSALHREFFTSRQKTSGPSV	1.0	5.0	unscreened	-	1913_10:99349932-99349932 C>T_RHGEVGSALHREFFTSRQKTSGPSV
4:77300505-77300505 C>T	0.0	1913	MELANOMA	-	-	-	-	CCDC158	uc003hkd.3,p.E323K|uc003hkb.4,p.E323K|ENST00000434846,p.E323K|ENST00000388914,p.E323K|NM_001042784,p.E323K	retained_intron, protein_coding, processed_transcript	uc003hkd.3	nonsynonymous SNV	exon8	c.G967A	p.E323K	QNSMYMRQLSDLESTVSQLRSELRE	QNSMYMRQLSDLKSTVSQLRSELRE	1.0	9.0	unscreened	-	1913_4:77300505-77300505 C>T_QNSMYMRQLSDLKSTVSQLRSELRE
19:9077010-9077010 C>T	0.0	1913	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.G3479E|NM_024690,p.G3479E|ENST00000397910,p.G3479E	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.G10436A	p.G3479E	GDQGITSLTNPSGGKTSSASSVTSP	GDQGITSLTNPSEGKTSSASSVTSP	1.0	9.0	unscreened	-	1913_19:9077010-9077010 C>T_GDQGITSLTNPSEGKTSSASSVTSP
6:139581468-139581468 C>T	0.0	1913	MELANOMA	-	-	-	-	TXLNB	ENST00000358430,p.R330Q|NM_153235,p.R330Q|uc021zfy.1,p.R330Q	protein_coding	uc021zfy.1	nonsynonymous SNV	exon6	c.G989A	p.R330Q	QEMMKEAEERHKREKEYLLNQAAEW	QEMMKEAEERHKQEKEYLLNQAAEW	1.0	1.0	unscreened	-	1913_6:139581468-139581468 C>T_QEMMKEAEERHKQEKEYLLNQAAEW
5:41201746-41201746 C>T	0.0	1913	MELANOMA	-	-	-	-	C6	uc003jml.2,p.E72K|ENST00000337836,p.E72K|ENST00000417809,p.E72K|ENST00000263413,p.E72K|uc003jmk.3,p.E72K|NM_000065,p.E72K|NM_001115131,p.E72K	retained_intron, protein_coding, processed_transcript	uc003jml.2	nonsynonymous SNV	exon3	c.G214A	p.E72K	FCEQICSKQETRECNWQRCPINCLL	FCEQICSKQETRKCNWQRCPINCLL	1.0	2.0	unscreened	-	1913_5:41201746-41201746 C>T_FCEQICSKQETRKCNWQRCPINCLL
11:92086329-92086329 G>A	0.0	1913	MELANOMA	-	-	-	2	FAT3	ENST00000409404,p.G351R|ENST00000298047,p.G351R|NM_001008781,p.G351R|ENST00000541502,p.G351R|ENST00000525166,p.G201R|uc001pdj.4,p.G351R	retained_intron, protein_coding, processed_transcript	uc001pdj.4	nonsynonymous SNV	exon1	c.G1051A	p.G351R	YGYNLTLQAKDKGSPQKCSALKAVY	YGYNLTLQAKDKRSPQKCSALKAVY	1.0	2.0	unscreened	-	1913_11:92086329-92086329 G>A_YGYNLTLQAKDKRSPQKCSALKAVY
1:179544798-179544798 C>T	0.0	1913	MELANOMA	-	-	-	-	NPHS2	NM_014625,p.D68N|uc001gmq.4,p.D68N|ENST00000367615,p.D68N|NM_001297575,p.D68N|ENST00000367616,p.D68N|uc009wxi.3,p.D68N	protein_coding	uc009wxi.3	nonsynonymous SNV	exon1	c.G202A	p.D68N	EPRAPAATVVDVDEVRGSGEEGTEV	EPRAPAATVVDVNEVRGSGEEGTEV	1.0	3.0	unscreened	-	1913_1:179544798-179544798 C>T_EPRAPAATVVDVNEVRGSGEEGTEV
5:31317546-31317546 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1685969;OCCURENCE=2(skin)	-	CDH6	ENST00000265071,p.S526F|ENST00000514738,p.S471F|uc003jhd.2,p.S526F|NM_004932,p.S526F|uc003jhe.2,p.S526F	retained_intron, protein_coding	uc003jhe.2	nonsynonymous SNV	exon10	c.C1577T	p.S526F	KDDPYSGHQFSFSLAPEAASGSNFT	KDDPYSGHQFSFFLAPEAASGSNFT	2.0	7.0	unscreened	-	1913_5:31317546-31317546 C>T_KDDPYSGHQFSFFLAPEAASGSNFT
6:100838929-100838929 G>A	0.0	1913	MELANOMA	-	-	-	-	SIM1	ENST00000369208,p.P537S|uc003pqj.4,p.P537S|ENST00000262901,p.P537S|uc010kcu.3,p.P537S|NM_005068,p.P537S|uc021zdg.1,p.P537S	retained_intron, protein_coding	uc021zdg.1	nonsynonymous SNV	exon11	c.C1609T	p.P537S	RGHWDEDSVVSSPDPGSASESGDRY	RGHWDEDSVVSSSDPGSASESGDRY	1.0	1.0	unscreened	-	1913_6:100838929-100838929 G>A_RGHWDEDSVVSSSDPGSASESGDRY
2:179577246-179577246 A>T	0.0	1913	MELANOMA	-	-	-	-	TTN	NM_133378,p.F7891I|NM_001267550,p.F9135I|uc031rqd.1,p.F8818I|NM_001256850,p.F8818I|ENST00000589042,p.F9135I|uc031rqc.1,p.F9135I|uc021vsy.2,p.F7891I|ENST00000342992,p.F7891I|uc002umz.1,p.F4552I|ENST00000591111,p.F8818I	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon93	c.T26452A	p.F8818I	IEKGKPLILEGTFTGTPPISVTWKK	IEKGKPLILEGTITGTPPISVTWKK	2.0	7.0	unscreened	-	1913_2:179577246-179577246 A>T_IEKGKPLILEGTITGTPPISVTWKK
21:44492300-44492300 G>A	1.0	1913	MELANOMA	-	-	-	-	CBS	uc002zcu.2,p.P2S|NM_001178009,p.P2S|uc002zct.2,p.P2S|ENST00000441030,p.P2S|ENST00000398165,p.P2S|ENST00000398168,p.P2S|NM_001178008,p.P2S|ENST00000398158,p.P2S|uc002zcv.2,p.P2S|uc002zcw.3,p.P2S|ENST00000352178,p.P2S|NM_000071,p.P2S|ENST00000359624,p.P2S	retained_intron, protein_coding, processed_transcript	uc002zcw.3	nonsynonymous SNV	exon3	c.C4T	p.P2S	MPSETPQAEVGPTG	MSSETPQAEVGPTG	9.0	9.0	unscreened	-	1913_21:44492300-44492300 G>A_MSSETPQAEVGPTG
1:32265452-32265452 C>T	0.0	1913	MELANOMA	-	-	-	-	SPOCD1	ENST00000533231,p.E581K|ENST00000528791,p.E74K|ENST00000257100,p.E74K|ENST00000360482,p.E581K|NM_001281987,p.E581K|NM_144569,p.E581K|uc001bts.1,p.E581K|uc001btv.3,p.E74K|ENST00000373648,p.E522K|uc001btu.3,p.E581K|NM_001281988,p.E74K	retained_intron, protein_coding	uc001btv.3	nonsynonymous SNV	exon5	c.G220A	p.E74K	SSDPACSQSGPMEAEEDSLPEQPED	SSDPACSQSGPMKAEEDSLPEQPED	4.0	2.0	unscreened	-	1913_1:32265452-32265452 C>T_SSDPACSQSGPMKAEEDSLPEQPED
19:54801932-54801932 A>T	0.0	1913	MELANOMA	-	-	-	-	LILRA3	ENST00000391744,p.V355D|ENST00000391745,p.V436D|NM_006865,p.V419D|ENST00000251390,p.V419D|uc010erk.3,p.V355D|uc002qfd.3,p.V419D|NM_001172654,p.V355D	protein_coding	uc010erk.3	nonsynonymous SNV	exon6	c.T1064A	p.V355D	LLTHPSDPLELVVSGAAETLSPPQN	LLTHPSDPLELVDSGAAETLSPPQN	3.0	9.0	unscreened	-	1913_19:54801932-54801932 A>T_LLTHPSDPLELVDSGAAETLSPPQN
2:121103970-121103970 G>A	0.0	1913	MELANOMA	-	-	-	-	INHBB	uc002tmn.2,p.R69Q|ENST00000295228,p.R69Q|NM_002193,p.R69Q	protein_coding	uc002tmn.2	nonsynonymous SNV	exon1	c.G206A	p.R69Q	SCGGFRRPEELGRVDGDFLEAVKRH	SCGGFRRPEELGQVDGDFLEAVKRH	1.0	4.0	unscreened	-	1913_2:121103970-121103970 G>A_SCGGFRRPEELGQVDGDFLEAVKRH
13:24465978-24465978 G>A	0.0	1913	MELANOMA	-	-	-	-	C1QTNF9B,C1QTNF9B-AS1	uc010tcw.2,p.P151L|ENST00000382137,p.P151L|ENST00000382140,p.P151L|uc010tcx.2,p.P151L|NM_001007537,p.P151L	protein_coding, processed_transcript	uc010tcx.2	nonsynonymous SNV	exon3	c.C452T	p.P151L	RGNIGPLGPTGLPGPMGPIGKPGPK	RGNIGPLGPTGLLGPMGPIGKPGPK	4.0	6.0	unscreened	-	1913_13:24465978-24465978 G>A_RGNIGPLGPTGLLGPMGPIGKPGPK
8:7308318-7308318 C>T	0.0	1913	MELANOMA	-	-	-	-	SPAG11B	ENST00000458665,p.D54N|uc003wrj.3,p.D54N|NM_058207,p.D54N|uc003wrl.3,p.D107N|NM_058201,p.D107N|ENST00000398462,p.D107N	protein_coding, nonsense_mediated_decay	uc003wrl.3	nonsynonymous SNV	exon3	c.G319A	p.D107N	CHSGEKKRDICSDPWNRCCVSNTDE	CHSGEKKRDICSNPWNRCCVSNTDE	1.0	2.0	unscreened	-	1913_8:7308318-7308318 C>T_CHSGEKKRDICSNPWNRCCVSNTDE
2:189923238-189923238 G>A	1.0	1913	MELANOMA	-	-	-	-	COL5A2	uc010frx.3,p.P292S|ENST00000374866,p.P716S|NM_000393,p.P716S|uc002uqk.3,p.P716S	retained_intron, protein_coding	uc010frx.3	nonsynonymous SNV	exon17	c.C874T	p.P292S	VGPLGPRGERGNPGERGEPGITGLP	VGPLGPRGERGNSGERGEPGITGLP	10.0	9.0	unscreened	-	1913_2:189923238-189923238 G>A_VGPLGPRGERGNSGERGEPGITGLP
7:82579685-82579685 C>T	0.0	1913	MELANOMA	-	-	-	-	PCLO	NM_033026,p.E3407K|uc003uhv.2,p.E3407K|ENST00000437081,p.E127K|uc003uhx.2,p.E3407K|ENST00000423517,p.E3407K|NM_014510,p.E3407K|ENST00000333891,p.E3407K|uc010lec.3,p.E372K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lec.3	nonsynonymous SNV	exon1	c.G1114A	p.E372K	SEIPLTDVVVKEEKQPKKRSSGAKV	SEIPLTDVVVKEKKQPKKRSSGAKV	1.0	5.0	unscreened	-	1913_7:82579685-82579685 C>T_SEIPLTDVVVKEKKQPKKRSSGAKV
9:78911755-78911755 C>T	0.0	1913	MELANOMA	-	-	-	-	PCSK5	ENST00000545128,p.T1166I|NM_001190482,p.T1166I|uc004akc.2,p.T1166I	protein_coding	uc004akc.2	nonsynonymous SNV	exon27	c.C3497T	p.T1166I	QLLRGMCVHATKTQEEGKFWNDILR	QLLRGMCVHATKIQEEGKFWNDILR	3.0	3.0	unscreened	-	1913_9:78911755-78911755 C>T_QLLRGMCVHATKIQEEGKFWNDILR
5:145383643-145383643 G>A	0.0	1913	MELANOMA	-	-	-	-	SH3RF2	ENST00000511217,p.S224N|ENST00000359120,p.S224N|uc003lnt.3,p.S224N|uc011dbl.1,p.S224N|NM_152550,p.S224N	retained_intron, protein_coding, processed_transcript	uc011dbl.1	nonsynonymous SNV	exon3	c.G671A	p.S224N	LTFLKDDIITVISRVDENWAEGKLG	LTFLKDDIITVINRVDENWAEGKLG	1.0	2.0	unscreened	-	1913_5:145383643-145383643 G>A_LTFLKDDIITVINRVDENWAEGKLG
9:105767253-105767253 A>G	0.0	1913	MELANOMA	-	-	-	-	CYLC2	uc004bbs.2,p.I114V|ENST00000374798,p.I114V|NM_001340,p.I114V|ENST00000487798,p.I114V	protein_coding, processed_transcript	uc004bbs.2	nonsynonymous SNV	exon5	c.A340G	p.I114V	TRTVEVDSKAAEIGKKGEDKTTQKD	TRTVEVDSKAAEVGKKGEDKTTQKD	1.0	9.0	unscreened	-	1913_9:105767253-105767253 A>G_TRTVEVDSKAAEVGKKGEDKTTQKD
2:159215063-159215063 C>T	0.0	1913	MELANOMA	-	-	-	-	CCDC148	uc002tzq.3,p.M15I|uc002tzs.2,p.M15I|ENST00000409889,p.M15I|ENST00000283233,p.M15I|NM_138803,p.M15I|ENST00000448656,p.M15I|ENST00000454257,p.M15I|NM_001301685,p.M15I	protein_coding, processed_transcript, nonsense_mediated_decay	uc002tzs.2	nonsynonymous SNV	exon2	c.G45A	p.M15I	AASASPDNLVFHMKNEMRNIKYKPV	AASASPDNLVFHIKNEMRNIKYKPV	4.0	3.0	unscreened	-	1913_2:159215063-159215063 C>T_AASASPDNLVFHIKNEMRNIKYKPV
1:228461599-228461599 G>A	0.0	1913	MELANOMA	-	-	-	-	OBSCN	ENST00000359599,p.G603S|ENST00000284548,p.G1756S|NM_052843,p.G1756S|NM_001098623,p.G1756S|ENST00000570156,p.G2131S|uc009xez.2,p.G1756S|NM_001271223,p.G2131S|uc001hsq.2,p.G2131S|uc001hsn.4,p.G1756S|ENST00000422127,p.G1756S	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon18	c.G5266A	p.G1756S	TPSAATVTWLKDGVEIRRSKRHETA	TPSAATVTWLKDSVEIRRSKRHETA	4.0	7.0	unscreened	-	1913_1:228461599-228461599 G>A_TPSAATVTWLKDSVEIRRSKRHETA
7:106508905-106508905 G>A	0.0	1913	MELANOMA	-	-	-	-	PIK3CG	ENST00000359195,p.G300E|uc003vdv.4,p.G300E|uc003vdw.3,p.G300E|ENST00000496166,p.G300E|uc003vdu.3,p.G300E|NM_001282426,p.G300E|NM_001282427,p.G300E|ENST00000440650,p.G300E|NM_002649,p.G300E	protein_coding, processed_transcript	uc003vdw.3	nonsynonymous SNV	exon2	c.G899A	p.G300E	KNFQWVRHCLKNGEEIHVVLDTPPD	KNFQWVRHCLKNEEEIHVVLDTPPD	1.0	5.0	unscreened	-	1913_7:106508905-106508905 G>A_KNFQWVRHCLKNEEEIHVVLDTPPD
12:118199252-118199252 G>A	0.0	1913	MELANOMA	-	-	-	-	KSR2	ENST00000339824,p.P184S|ENST00000425217,p.P155S|uc001two.2,p.P155S|NM_173598,p.P155S	retained_intron, protein_coding, processed_transcript	uc001two.2	nonsynonymous SNV	exon4	c.C463T	p.P155S	TTETGKENNPVCPPEPTPWIRTHLS	TTETGKENNPVCSPEPTPWIRTHLS	1.0	7.0	unscreened	-	1913_12:118199252-118199252 G>A_TTETGKENNPVCSPEPTPWIRTHLS
20:51871826-51871826 C>T	0.0	1913	MELANOMA	-	-	-	-	TSHZ2	uc002xwo.3,p.A610V|ENST00000371497,p.A610V|ENST00000329613,p.A607V|NM_001193421,p.A607V|NM_173485,p.A610V|ENST00000603338,p.A607V|uc021wex.1,p.A607V	protein_coding, processed_transcript	uc021wex.1	nonsynonymous SNV	exon2	c.C1820T	p.A607V	TQVKKESEDKDEAVKECGKESPHEE	TQVKKESEDKDEVVKECGKESPHEE	1.0	1.0	unscreened	-	1913_20:51871826-51871826 C>T_TQVKKESEDKDEVVKECGKESPHEE
5:41382447-41382447 C>T	0.0	1913	MELANOMA	0.0014	-	-	-	PLCXD3	NM_001005473,p.R98Q|ENST00000328457,p.R98Q|ENST00000377801,p.R98Q|uc003jmm.1,p.R98Q	protein_coding	uc003jmm.1	nonsynonymous SNV	exon2	c.G293A	p.R98Q	GQLGAGIRYFDLRISTKPRDPDNEL	GQLGAGIRYFDLQISTKPRDPDNEL	1.0	3.0	unscreened	-	1913_5:41382447-41382447 C>T_GQLGAGIRYFDLQISTKPRDPDNEL
16:20976416-20976416 C>A	0.0	1913	MELANOMA	-	-	-	-	DNAH3	uc010vbd.2,p.K365N|uc010vbe.2,p.K2930N|ENST00000261383,p.K2930N|NM_017539,p.K2930N	retained_intron, protein_coding, processed_transcript	uc010vbe.2	nonsynonymous SNV	exon53	c.G8790T	p.K2930N	QMQKLNQKRAELKLVVDRLQALNDD	QMQKLNQKRAELNLVVDRLQALNDD	1.0	2.0	unscreened	-	1913_16:20976416-20976416 C>A_QMQKLNQKRAELNLVVDRLQALNDD
11:57004475-57004475 C>T	0.0	1913	MELANOMA	-	-	ID=COSM688431;OCCURENCE=1(lung)	-	APLNR	uc001njo.3,p.E2K|NM_005161,p.E2K|ENST00000257254,p.E2K|ENST00000606794,p.E2K	protein_coding	uc001njo.3	nonsynonymous SNV	exon1	c.G4A	p.E2K	MEEGGDFDNYYGAD	MKEGGDFDNYYGAD	1.0	1.0	unscreened	-	1913_11:57004475-57004475 C>T_MKEGGDFDNYYGAD
11:18062291-18062291 C>T	0.0	1913	MELANOMA	-	-	-	-	TPH1	ENST00000528338,p.E17K	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000528338	nonsynonymous SNV	exon2	c.G49A	p.E17K	NYSKFIMIEDNKENKDHSLERGRAS	NYSKFIMIEDNKKNKDHSLERGRAS	1.0	9.0	unscreened	-	1913_11:18062291-18062291 C>T_NYSKFIMIEDNKKNKDHSLERGRAS
17:10408543-10408543 C>T	0.0	1913	MELANOMA	-	-	ID=COSM3402589;OCCURENCE=1(central_nervous_system)	-	MYH1	NM_005963,p.R791Q|ENST00000226207,p.R791Q|uc002gmo.3,p.R791Q	protein_coding	uc002gmo.3	nonsynonymous SNV	exon21	c.G2372A	p.R791Q	EMRDEKLAQLITRTQAMCRGFLARV	EMRDEKLAQLITQTQAMCRGFLARV	1.0	6.0	unscreened	-	1913_17:10408543-10408543 C>T_EMRDEKLAQLITQTQAMCRGFLARV
5:33616125-33616125 C>T	0.0	1913	MELANOMA	-	-	-	-	ADAMTS12	ENST00000352040,p.M647I|ENST00000504830,p.M732I|uc003jia.1,p.M732I|uc010iuq.1,p.M647I|NM_030955,p.M732I	protein_coding, processed_transcript	uc010iuq.1	nonsynonymous SNV	exon13	c.G1941A	p.M647I	GLIPKGARDIRVMEIEGAGNFLAIR	GLIPKGARDIRVIEIEGAGNFLAIR	1.0	8.0	unscreened	-	1913_5:33616125-33616125 C>T_GLIPKGARDIRVIEIEGAGNFLAIR
1:152279071-152279071 C>T	1.0	1913	MELANOMA	-	-	-	-	FLG	uc001ezu.1,p.G2764E|NM_002016,p.G2764E|ENST00000368799,p.G2764E	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.G8291A	p.G2764E	HGWTGPSTRGRQGSRHEQAQDSSRH	HGWTGPSTRGRQESRHEQAQDSSRH	3.0	1.0	unscreened	-	1913_1:152279071-152279071 C>T_HGWTGPSTRGRQESRHEQAQDSSRH
5:140782523-140782523 G>A	0.0	1913	MELANOMA	-	-	-	-	PCDHGA9	NM_032089,p.A2T|uc011dax.2,p.A2T|uc003lkh.2,p.A2T|NM_018921,p.A2T|ENST00000573521,p.A2T	protein_coding	uc011dax.2	nonsynonymous SNV	exon1	c.G4A	p.A2T	MAAPTKCQLRGRLV	MTAPTKCQLRGRLV	2.0	8.0	unscreened	-	1913_5:140782523-140782523 G>A_MTAPTKCQLRGRLV
16:20422900-20422900 C>T	0.0	1913	MELANOMA	-	-	-	-	ACSM5	ENST00000331849,p.P32S|uc002dhe.3,p.P32S|NM_017888,p.P32S|uc002dhd.1,p.P32S|ENST00000575584,p.P32S	retained_intron, protein_coding, nonsense_mediated_decay	uc002dhe.3	nonsynonymous SNV	exon2	c.C94T	p.P32S	CGSHGKPAPLPVPQKIVATWEAISL	CGSHGKPAPLPVSQKIVATWEAISL	1.0	3.0	unscreened	-	1913_16:20422900-20422900 C>T_CGSHGKPAPLPVSQKIVATWEAISL
9:78911755-78911755 C>T	0.0	1913	MELANOMA	-	-	-	-	PCSK5	ENST00000424854,p.T839I	protein_coding	ENST00000424854	nonsynonymous SNV	exon20	c.C2516T	p.T839I	QLLRGMCVHATKTQEEGKFWNEAVS	QLLRGMCVHATKIQEEGKFWNEAVS	3.0	3.0	unscreened	-	1913_9:78911755-78911755 C>T_QLLRGMCVHATKIQEEGKFWNEAVS
11:62291145-62291145 G>A	1.0	1913	MELANOMA	-	-	-	-	AHNAK	NM_001620,p.P3582S|uc001ntl.3,p.P3582S|ENST00000378024,p.P3582S	protein_coding, processed_transcript	uc001ntl.3	nonsynonymous SNV	exon5	c.C10744T	p.P3582S	GDLKGPEVDIKGPKVDINAPDVDVH	GDLKGPEVDIKGSKVDINAPDVDVH	9.0	2.0	unscreened	-	1913_11:62291145-62291145 G>A_GDLKGPEVDIKGSKVDINAPDVDVH
2:21230925-21230925 C>T	0.0	1913	MELANOMA	-	-	-	-	APOB	NM_000384,p.E2939K|ENST00000233242,p.E2939K|uc002red.3,p.E2939K	protein_coding	uc002red.3	nonsynonymous SNV	exon26	c.G8815A	p.E2939K	GSWKWACPRFSDEGTHESQISFTIE	GSWKWACPRFSDKGTHESQISFTIE	1.0	9.0	unscreened	-	1913_2:21230925-21230925 C>T_GSWKWACPRFSDKGTHESQISFTIE
12:56436237-56436237 C>T	1.0	1913	MELANOMA	-	-	-	-	RPS26	ENST00000552361,p.A11V|ENST00000356464,p.A11V|NM_001029,p.A11V|uc001sjf.3,p.A11V	retained_intron, protein_coding	uc001sjf.3	nonsynonymous SNV	exon2	c.C32T	p.A11V	MTKKRRNNGRAKKGRGHVQPIRC	MTKKRRNNGRVKKGRGHVQPIRC	10.0	3.0	unscreened	-	1913_12:56436237-56436237 C>T_MTKKRRNNGRVKKGRGHVQPIRC
7:123276900-123276900 A>T	0.0	1913	MELANOMA	-	-	-	-	ASB15	ENST00000451558,p.K544N|uc003vku.1,p.K544N|ENST00000275699,p.K544N|ENST00000451215,p.K544N|NM_001290258,p.K544N|uc003vkw.1,p.K544N|ENST00000434204,p.K544N|NM_080928,p.K544N|ENST00000540573,p.K544N	protein_coding	uc003vkw.1	nonsynonymous SNV	exon10	c.A1632T	p.K544N	ENPCSLKHLCRLKIRRLMGLQKLCQ	ENPCSLKHLCRLNIRRLMGLQKLCQ	1.0	7.0	unscreened	-	1913_7:123276900-123276900 A>T_ENPCSLKHLCRLNIRRLMGLQKLCQ
3:195516034-195516034 G>A	0.0	1913	MELANOMA	-	-	-	2	MUC4	ENST00000478156,p.S806F|ENST00000466475,p.S806F|ENST00000463781,p.S806F|ENST00000477756,p.S806F|NM_018406,p.S806F|ENST00000475231,p.S806F|ENST00000477086,p.S806F|ENST00000480843,p.S806F|ENST00000479406,p.S806F|uc021xjp.1,p.S806F|ENST00000470451,p.S806F|ENST00000462323,p.S806F|uc021xjq.1,p.S688F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjq.1	nonsynonymous SNV	exon1	c.C2063T	p.S688F	GSRTTSAGTATPSSSGASGTTPSGS	GSRTTSAGTATPFSSGASGTTPSGS	1.0	8.0	unscreened	-	1913_3:195516034-195516034 G>A_GSRTTSAGTATPFSSGASGTTPSGS
5:176709529-176709529 C>T	1.0	1913	MELANOMA	-	-	ID=COSM208256,COSM208255;OCCURENCE=1(large_intestine)	1	NSD1	NM_172349,p.R1717C|uc011dfx.2,p.R1634C|uc003mft.4,p.R1717C|ENST00000354179,p.R1717C|NM_022455,p.R1986C|ENST00000361032,p.R1883C|uc003mfr.4,p.R1986C|ENST00000347982,p.R1717C|ENST00000439151,p.R1986C	retained_intron, protein_coding, nonsense_mediated_decay	uc011dfx.2	nonsynonymous SNV	exon20	c.C4900T	p.R1634C	ELIDEEECRARIRYAQEHDITNFYM	ELIDEEECRARICYAQEHDITNFYM	6.0	8.0	unscreened	-	1913_5:176709529-176709529 C>T_ELIDEEECRARICYAQEHDITNFYM
3:140401528-140401528 C>T	0.0	1913	MELANOMA	-	-	-	-	TRIM42	ENST00000286349,p.P189L|uc003eto.2,p.P189L|NM_152616,p.P189L	protein_coding	uc003eto.2	nonsynonymous SNV	exon2	c.C566T	p.P189L	AEVTENFFILICPVCDRSHCMPYSN	AEVTENFFILICLVCDRSHCMPYSN	1.0	7.0	unscreened	-	1913_3:140401528-140401528 C>T_AEVTENFFILICLVCDRSHCMPYSN
1:75078373-75078373 G>A	0.0	1913	MELANOMA	-	-	-	-	ERICH3	ENST00000420661,p.S177F|uc001dgg.3,p.S374F|NM_001002912,p.S374F|uc001dgi.4,p.S168F|ENST00000326665,p.S374F	protein_coding, processed_transcript	uc001dgi.4	nonsynonymous SNV	exon4	c.C503T	p.S168F	LSSCCEYKHRKGSRLGGKRGYFGFV	LSSCCEYKHRKGFRLGGKRGYFGFV	1.0	9.0	unscreened	-	1913_1:75078373-75078373 G>A_LSSCCEYKHRKGFRLGGKRGYFGFV
2:109524386-109524386 G>A	0.0	1913	MELANOMA	-	-	-	-	EDAR	ENST00000376651,p.P330L|NM_022336,p.P298L|ENST00000258443,p.P298L|uc010fjn.3,p.P330L|uc010yws.2,p.P330L|ENST00000409271,p.P330L|uc002teq.4,p.P298L	protein_coding	uc010yws.2	nonsynonymous SNV	exon9	c.C989T	p.P330L	SDEEPAPDKQGSPELCLLSLVHLAR	SDEEPAPDKQGSLELCLLSLVHLAR	1.0	5.0	unscreened	-	1913_2:109524386-109524386 G>A_SDEEPAPDKQGSLELCLLSLVHLAR
4:26491886-26491886 C>T	0.0	1913	MELANOMA	-	-	-	-	CCKAR	uc003gse.1,p.D2N|NM_000730,p.D2N|ENST00000295589,p.D2N	protein_coding	uc003gse.1	nonsynonymous SNV	exon1	c.G4A	p.D2N	MDVVDSLLVNGSNI	MNVVDSLLVNGSNI	1.0	9.0	unscreened	-	1913_4:26491886-26491886 C>T_MNVVDSLLVNGSNI
19:4548329-4548329 C>T	1.0	1913	MELANOMA	-	-	-	-	SEMA6B	ENST00000586965,p.G467E|ENST00000301293,p.G467E|uc010dud.2,p.G467E|NM_032108,p.G467E|ENST00000586582,p.G467E	retained_intron, protein_coding	uc010dud.2	nonsynonymous SNV	exon13	c.G1400A	p.G467E	LKFLVRPNASTSGTSGLSVFLEEFE	LKFLVRPNASTSETSGLSVFLEEFE	5.0	7.0	unscreened	-	1913_19:4548329-4548329 C>T_LKFLVRPNASTSETSGLSVFLEEFE
10:102089796-102089796 T>C	0.0	1913	MELANOMA	-	-	-	-	PKD2L1	ENST00000318222,p.N22S|ENST00000532547,p.N22S|NM_016112,p.N22S|ENST00000338519,p.N22S|ENST00000353274,p.N22S|uc001kqx.1,p.N22S	protein_coding, nonsense_mediated_decay	uc001kqx.1	nonsynonymous SNV	exon1	c.A65G	p.N22S	QELQKLGSGAWDNPAYSGPPSPHGT	QELQKLGSGAWDSPAYSGPPSPHGT	1.0	5.0	unscreened	-	1913_10:102089796-102089796 T>C_QELQKLGSGAWDSPAYSGPPSPHGT
12:55356531-55356531 G>A	0.0	1913	MELANOMA	-	-	ID=COSM240360,COSM240361;OCCURENCE=1(prostate)	-	TESPA1	NM_014796,p.S246L|ENST00000449076,p.S384L|uc001sgn.4,p.S384L|ENST00000531122,p.S246L|uc010spc.2,p.S246L|uc001sgm.4,p.S131L|NM_001136030,p.S384L|NM_001261844,p.S246L|ENST00000316577,p.S384L|ENST00000532804,p.S246L|ENST00000524622,p.S246L|NM_001098815,p.S384L|uc010spb.2,p.S131L|uc010spd.2,p.S384L|uc001sgl.4,p.S246L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010spd.2	nonsynonymous SNV	exon9	c.C1151T	p.S384L	MSTVLAPSQTLDSNPKVPCCTHSLP	MSTVLAPSQTLDLNPKVPCCTHSLP	1.0	2.0	unscreened	-	1913_12:55356531-55356531 G>A_MSTVLAPSQTLDLNPKVPCCTHSLP
1:248722772-248722772 C>T	0.0	1913	MELANOMA	-	-	-	-	OR2T29	ENST00000328570,p.M7I|NM_001004694,p.M7I|uc001ieo.2,p.M7I	protein_coding	uc001ieo.2	nonsynonymous SNV	exon1	c.G21A	p.M7I	MANITRMANHTGRLDFILM	MANITRIANHTGRLDFILM	1.0	7.0	unscreened	-	1913_1:248722772-248722772 C>T_MANITRIANHTGRLDFILM
2:56611435-56611435 C>T	0.0	1913	MELANOMA	-	-	-	-	CCDC85A	uc002rzn.3,p.S536L|ENST00000407595,p.S536L|NM_001080433,p.S536L	protein_coding	uc002rzn.3	nonsynonymous SNV	exon6	c.C1607T	p.S536L	KVVWRKLGDAAGSCPGIRQHLSGNQ	KVVWRKLGDAAGLCPGIRQHLSGNQ	1.0	7.0	unscreened	-	1913_2:56611435-56611435 C>T_KVVWRKLGDAAGLCPGIRQHLSGNQ
19:16033230-16033230 C>T	0.0	1913	MELANOMA	-	-	-	-	CYP4F11	NM_001128932,p.G310E|NM_021187,p.G310E|ENST00000248041,p.G310E|ENST00000326742,p.G310E|uc002nbt.2,p.G310E|ENST00000402119,p.G310E|uc010eab.1,p.G310E|uc002nbu.2,p.G310E	retained_intron, protein_coding	uc010eab.1	nonsynonymous SNV	exon7	c.G929A	p.G310E	FIDVLLLSKDEDGKELSDEDIRAEA	FIDVLLLSKDEDEKELSDEDIRAEA	1.0	1.0	unscreened	-	1913_19:16033230-16033230 C>T_FIDVLLLSKDEDEKELSDEDIRAEA
8:41561620-41561620 C>T	0.0	1913	MELANOMA	-	-	-	2	ANK1	ENST00000396945,p.G745E|uc003xoh.3,p.G53E|ENST00000265709,p.G778E|uc003xom.3,p.G778E|NM_001142446,p.G778E|uc003xoi.3,p.G745E|NM_020476,p.G745E|ENST00000396942,p.G745E|ENST00000352337,p.G745E|uc003xoj.3,p.G745E|ENST00000379758,p.G745E|ENST00000289734,p.G745E|ENST00000347528,p.G745E|uc003xol.3,p.G745E|NM_020477,p.G745E|NM_020475,p.G745E|uc003xok.3,p.G745E|NM_000037,p.G745E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xom.3	nonsynonymous SNV	exon20	c.G2333A	p.G778E	LGYSPLHQAAQQGHTDIVTLLLKNG	LGYSPLHQAAQQEHTDIVTLLLKNG	3.0	4.0	unscreened	-	1913_8:41561620-41561620 C>T_LGYSPLHQAAQQEHTDIVTLLLKNG
10:102566297-102566297 C>T	0.0	1913	MELANOMA	-	-	ID=COSM401096,COSM1702921;OCCURENCE=1(skin),1(lung)	-	PAX2	ENST00000361791,p.R243W|ENST00000428433,p.R266W|ENST00000355243,p.R243W|NM_003988,p.R243W|uc001krn.4,p.R243W|NM_003989,p.R243W|uc001krl.4,p.R243W|uc010qps.2,p.R242W|NM_003987,p.R266W|ENST00000554172,p.R239W|uc001kro.4,p.R243W|NM_003990,p.R266W|uc001krp.1,p.R239W|ENST00000370296,p.R266W|ENST00000556085,p.R242W|uc001krm.4,p.R266W|uc001krk.4,p.R266W|NM_000278,p.R243W	retained_intron, protein_coding, nonsense_mediated_decay	uc010qps.2	nonsynonymous SNV	exon6	c.C724T	p.R242W	DTFTQQQLEALDRVFERPSYPDVFQ	DTFTQQQLEALDWVFERPSYPDVFQ	1.0	5.0	unscreened	-	1913_10:102566297-102566297 C>T_DTFTQQQLEALDWVFERPSYPDVFQ
2:50464039-50464039 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1663145,COSM1663144,COSM1663142,COSM1663143;OCCURENCE=1(kidney)	-	NRXN1	uc021vhj.1,p.P1141L|uc021vhi.1,p.P1181L	retained_intron, protein_coding, processed_transcript	uc021vhj.1	nonsynonymous SNV	exon17	c.C3422T	p.P1141L	SKGGGQITYKWPPNDRPSTRADRLA	SKGGGQITYKWPLNDRPSTRADRLA	1.0	7.0	unscreened	-	1913_2:50464039-50464039 G>A_SKGGGQITYKWPLNDRPSTRADRLA
6:129511377-129511377 C>T	0.0	1913	MELANOMA	-	-	ID=COSM282349;OCCURENCE=1(large_intestine)	-	LAMA2	uc021zfb.1,p.R499C|ENST00000421865,p.R499C|uc003qbn.3,p.R499C|NM_001079823,p.R499C|NM_000426,p.R499C|uc003qbo.3,p.R499C	protein_coding, processed_transcript	uc021zfb.1	nonsynonymous SNV	exon11	c.C1495T	p.R499C	ICKENVEGGDCSRCKSGFFNLQEDN	ICKENVEGGDCSCCKSGFFNLQEDN	1.0	1.0	unscreened	-	1913_6:129511377-129511377 C>T_ICKENVEGGDCSCCKSGFFNLQEDN
1:16093939-16093939 C>T	0.0	1913	MELANOMA	-	-	-	-	FBLIM1	ENST00000375771,p.P107S|NM_017556,p.P107S|ENST00000441801,p.P107S|NM_001024215,p.P107S|ENST00000483633,p.P107S|ENST00000375766,p.P107S|uc001axg.1,p.P107S|uc001axd.1,p.P107S|uc001axe.1,p.P107S	protein_coding, processed_transcript	uc001axg.1	nonsynonymous SNV	exon3	c.C319T	p.P107S	EDVLPDLDLLPPPPPPPPVLLPSEE	EDVLPDLDLLPPSPPPPPVLLPSEE	1.0	4.0	unscreened	-	1913_1:16093939-16093939 C>T_EDVLPDLDLLPPSPPPPPVLLPSEE
17:74621604-74621604 A>C	0.0	1913	MELANOMA	-	-	-	-	ST6GALNAC1	NM_018414,p.S537R|uc002jsh.3,p.S537R|uc002jsi.3,p.S405R|NM_001289107,p.S405R|ENST00000156626,p.S537R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jsi.3	nonsynonymous SNV	exon10	c.T1215G	p.S405R	LLLTALQLCDQVSAYGFITEGHERF	LLLTALQLCDQVRAYGFITEGHERF	1.0	6.0	unscreened	-	1913_17:74621604-74621604 A>C_LLLTALQLCDQVRAYGFITEGHERF
10:50948878-50948878 C>T	0.0	1913	MELANOMA	-	-	-	-	OGDHL	uc001jie.3,p.R673Q|NM_001143996,p.R616Q|uc010qgu.2,p.R464Q|uc010qgt.2,p.R616Q|NM_001143997,p.R464Q|NM_018245,p.R673Q|uc009xog.3,p.R700Q|ENST00000374103,p.R673Q|ENST00000432695,p.R464Q|ENST00000419399,p.R616Q	protein_coding, processed_transcript	uc010qgu.2	nonsynonymous SNV	exon14	c.G1391A	p.R464Q	SGQDVERGTFSHRHHVLHDQEVDRR	SGQDVERGTFSHQHHVLHDQEVDRR	1.0	5.0	unscreened	-	1913_10:50948878-50948878 C>T_SGQDVERGTFSHQHHVLHDQEVDRR
10:135440236-135440236 C>T	0.0	1913	MELANOMA	-	-	-	-	FRG2B	uc010qvg.2,p.G4E|ENST00000443774,p.G4E|NM_001080998,p.G4E|ENST00000425520,p.G4E	protein_coding, processed_transcript	uc010qvg.2	nonsynonymous SNV	exon1	c.G11A	p.G4E	MGKGNEDPDLHCSSIQ	MGKENEDPDLHCSSIQ	3.0	1.0	unscreened	-	1913_10:135440236-135440236 C>T_MGKENEDPDLHCSSIQ
1:75038603-75038603 C>T	0.0	1913	MELANOMA	0.01	-	-	-	ERICH3	uc001dgg.3,p.G931R|ENST00000326665,p.G931R|NM_001002912,p.G931R	protein_coding, processed_transcript	uc001dgg.3	nonsynonymous SNV	exon14	c.G2791A	p.G931R	VAALREAATSEEGEAEGGVAVSDVG	VAALREAATSEEREAEGGVAVSDVG	1.0	9.0	unscreened	-	1913_1:75038603-75038603 C>T_VAALREAATSEEREAEGGVAVSDVG
9:138667256-138667256 G>A	0.0	1913	MELANOMA	-	-	-	-	KCNT1	ENST00000491806,p.D749N|uc011mdr.2,p.D609N|ENST00000490355,p.D761N|ENST00000371757,p.D782N|uc010nbf.3,p.D737N|uc004cgo.1,p.D531N|NM_001272003,p.D737N|NM_020822,p.D782N|uc011mdq.2,p.D782N|ENST00000488444,p.D763N|ENST00000263604,p.D763N|ENST00000298480,p.D782N|ENST00000487664,p.D737N|ENST00000486577,p.D741N	retained_intron, protein_coding, nonsense_mediated_decay	uc011mdr.2	nonsynonymous SNV	exon20	c.G1825A	p.D609N	LPVKAPFCCLRLDKGCKHNSYEDAK	LPVKAPFCCLRLNKGCKHNSYEDAK	1.0	9.0	unscreened	-	1913_9:138667256-138667256 G>A_LPVKAPFCCLRLNKGCKHNSYEDAK
X:27999155-27999155 T>A	0.0	1913	MELANOMA	-	-	-	-	DCAF8L1	NM_001017930,p.E99D|ENST00000441525,p.E99D|uc004dbx.1,p.E99D	protein_coding	uc004dbx.1	nonsynonymous SNV	exon1	c.A297T	p.E99D	GLFGYPLVGEETEREEEEEEMEEEG	GLFGYPLVGEETDREEEEEEMEEEG	1.0	9.0	unscreened	-	1913_X:27999155-27999155 T>A_GLFGYPLVGEETDREEEEEEMEEEG
8:131792841-131792841 C>T	0.0	1913	MELANOMA	-	-	-	-	ADCY8	ENST00000377928,p.R1053K|ENST00000286355,p.R1184K|uc003ytd.4,p.R1184K|uc010mds.3,p.R1053K|NM_001115,p.R1184K	protein_coding	uc010mds.3	nonsynonymous SNV	exon15	c.G3158A	p.R1053K	GRVQPNPFILPPRRLPGQYSLAAVV	GRVQPNPFILPPKRLPGQYSLAAVV	2.0	4.0	unscreened	-	1913_8:131792841-131792841 C>T_GRVQPNPFILPPKRLPGQYSLAAVV
9:102590616-102590618 CAC>-	0.0	1913	MELANOMA	-	-	-	1	NR4A3	uc004baf.1,p.98_98del|NM_173199,p.98_98del|ENST00000330847,p.109_109del|ENST00000338488,p.98_98del|ENST00000395097,p.98_98del|uc004bae.3,p.98_98del|NM_173200,p.109_109del|NM_006981,p.98_98del|uc022bky.1,p.109_109del	protein_coding	uc022bky.1	nonframeshift deletion	exon4	c.325_327del	p.109_109del	VEEGRAPSYHHHHHHHHHHHHHHQQ	VEEGRAPSYHHHHHHHHHHHHHQQQ	3.0	1.0	unscreened	-	1913_9:102590616-102590618 CAC>-_VEEGRAPSYHHHHHHHHHHHHHQQQ
1:158624504-158624504 C>A	0.0	1913	MELANOMA	-	-	-	-	SPTA1	ENST00000368148,p.G978V|NM_003126,p.G978V|ENST00000368147,p.G978V|uc001fst.1,p.G978V	protein_coding, processed_transcript	uc001fst.1	nonsynonymous SNV	exon21	c.G2933T	p.G978V	QQQQAAPVEGVAGEQRVMALYDFQA	QQQQAAPVEGVAVEQRVMALYDFQA	1.0	6.0	unscreened	-	1913_1:158624504-158624504 C>A_QQQQAAPVEGVAVEQRVMALYDFQA
12:7556157-7556157 C>G	0.0	1913	MELANOMA	-	-	-	-	CD163L1	ENST00000545926,p.R107T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000545926	nonsynonymous SNV	exon1	c.G320C	p.R107T	TYDGKAKRTCFRRSDAGVICSGDAT	TYDGKAKRTCFRTSDAGVICSGDAT	1.0	1.0	unscreened	-	1913_12:7556157-7556157 C>G_TYDGKAKRTCFRTSDAGVICSGDAT
3:119256194-119256194 T>C	0.0	1913	MELANOMA	-	-	-	-	CD80	ENST00000264246,p.T164A|uc003ecq.3,p.T164A|ENST00000478182,p.T164A|uc010hqt.1,p.T164A|ENST00000383669,p.T164A|NM_005191,p.T164A	retained_intron, protein_coding	uc010hqt.1	nonsynonymous SNV	exon3	c.A490G	p.T164A	IPTSNIRRIICSTSGGFPEPHLSWL	IPTSNIRRIICSASGGFPEPHLSWL	1.0	9.0	unscreened	-	1913_3:119256194-119256194 T>C_IPTSNIRRIICSASGGFPEPHLSWL
10:20335909-20335909 C>T	0.0	1913	MELANOMA	-	-	-	-	PLXDC2	uc001iqg.1,p.H146Y|ENST00000377252,p.H146Y|NM_032812,p.H146Y	protein_coding	uc001iqg.1	nonsynonymous SNV	exon3	c.C436T	p.H146Y	NIDQMEKDKVKIHGILSNTHRQAAR	NIDQMEKDKVKIYGILSNTHRQAAR	1.0	8.0	unscreened	-	1913_10:20335909-20335909 C>T_NIDQMEKDKVKIYGILSNTHRQAAR
14:60976185-60976185 G>T	0.0	1913	MELANOMA	-	-	-	-	SIX6	uc001xfa.4,p.E23D|NM_007374,p.E23D|ENST00000327720,p.E23D	protein_coding	uc001xfa.4	nonsynonymous SNV	exon1	c.G69T	p.E23D	PQQVAGVCETLEESGDVERLGRFLW	PQQVAGVCETLEDSGDVERLGRFLW	1.0	9.0	unscreened	-	1913_14:60976185-60976185 G>T_PQQVAGVCETLEDSGDVERLGRFLW
6:119653169-119653169 C>T	0.0	1913	MELANOMA	-	-	-	-	MAN1A1	ENST00000368466,p.E202K|uc010kei.3,p.E202K	protein_coding	uc010kei.3	nonsynonymous SNV	exon3	c.G604A	p.E202K	AAIREKRAKIKEEIEARKGQANCPG	AAIREKRAKIKEKIEARKGQANCPG	1.0	2.0	unscreened	-	1913_6:119653169-119653169 C>T_AAIREKRAKIKEKIEARKGQANCPG
19:4548329-4548329 C>T	1.0	1913	MELANOMA	-	-	-	-	SEMA6B	uc010xih.1,p.G467E	retained_intron, protein_coding	uc010xih.1	nonsynonymous SNV	exon13	c.G1400A	p.G467E	LKFLVRPNASTSGTSGLSVFLEDLN	LKFLVRPNASTSETSGLSVFLEDLN	5.0	7.0	unscreened	-	1913_19:4548329-4548329 C>T_LKFLVRPNASTSETSGLSVFLEDLN
X:92965076-92965076 G>A	1.0	1913	MELANOMA	-	-	-	-	FAM133A	NM_001171109,p.E220K|uc022bzv.1,p.E220K|ENST00000538690,p.E220K|ENST00000332647,p.E220K|uc022bzu.1,p.E220K|uc022bzx.1,p.E220K|NM_173698,p.E220K|NM_001171110,p.E220K|ENST00000322139,p.E220K|NM_001171111,p.E220K|ENST00000355813,p.E220K|uc004efr.2,p.E220K|uc022bzw.1,p.E220K	protein_coding	uc022bzx.1	nonsynonymous SNV	exon1	c.G658A	p.E220K	KKRRCEEREQAKEKVKKKKKKQHKK	KKRRCEEREQAKKKVKKKKKKQHKK	9.0	9.0	unscreened	-	1913_X:92965076-92965076 G>A_KKRRCEEREQAKKKVKKKKKKQHKK
5:129037247-129037247 G>A	0.0	1913	MELANOMA	-	-	ID=COSM3661364;OCCURENCE=1(liver)	-	ADAMTS19	NM_133638,p.D1035N|ENST00000274487,p.D1035N|uc003kvb.1,p.D1035N	protein_coding, processed_transcript, nonsense_mediated_decay	uc003kvb.1	nonsynonymous SNV	exon20	c.G3103A	p.D1035N	PKPASAQRCEGQDCMTVWEAGVWSE	PKPASAQRCEGQNCMTVWEAGVWSE	1.0	9.0	unscreened	-	1913_5:129037247-129037247 G>A_PKPASAQRCEGQNCMTVWEAGVWSE
15:74483772-74483772 C>T	0.0	1913	MELANOMA	-	-	-	-	STRA6	ENST00000569936,p.G261R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000569936	nonsynonymous SNV	exon9	c.G781A	p.G261R	EYLRNLLCRKKLGSRMAAVEDWLLL	EYLRNLLCRKKLRSRMAAVEDWLLL	1.0	2.0	unscreened	-	1913_15:74483772-74483772 C>T_EYLRNLLCRKKLRSRMAAVEDWLLL
7:87031609-87031609 C>T	0.0	1913	MELANOMA	-	-	-	-	ABCB4	ENST00000265723,p.E1222K|ENST00000545634,p.E1215K|NM_018849,p.E1222K|ENST00000359206,p.E1215K|NM_018850,p.E1168K|uc003uix.1,p.E1168K|uc003uiw.1,p.E1215K|ENST00000358400,p.E1168K|NM_000443,p.E1215K|uc003uiv.1,p.E1222K|ENST00000453593,p.E1168K	retained_intron, protein_coding	uc003uix.1	nonsynonymous SNV	exon27	c.G3502A	p.E1168K	SALDTESEKVVQEALDKAREGRTCI	SALDTESEKVVQKALDKAREGRTCI	1.0	5.0	unscreened	-	1913_7:87031609-87031609 C>T_SALDTESEKVVQKALDKAREGRTCI
9:8484266-8484266 C>T	0.0	1913	MELANOMA	-	-	-	-	PTPRD	ENST00000355233,p.G678E|uc003zkr.3,p.G673E|NM_130391,p.G678E|ENST00000397611,p.G675E|uc003zks.3,p.G668E|NM_130393,p.G673E|ENST00000540109,p.G1089E|NM_001040712,p.G675E|ENST00000360074,p.G1076E|uc003zkq.3,p.G678E|NM_001171025,p.G668E|NM_002839,p.G1089E|ENST00000537002,p.G675E|uc022bdj.1,p.G675E|uc003zkk.3,p.G1089E|ENST00000356435,p.G1089E|uc003zkp.3,p.G678E|ENST00000381196,p.G1089E|ENST00000397617,p.G668E|ENST00000397606,p.G668E|NM_130392,p.G678E|ENST00000486161,p.G678E|ENST00000358503,p.G1067E	retained_intron, protein_coding, processed_transcript	uc022bdj.1	nonsynonymous SNV	exon13	c.G2024A	p.G675E	PEKSYSFVLTNRGNSAGGLQHRVTA	PEKSYSFVLTNRENSAGGLQHRVTA	1.0	9.0	unscreened	-	1913_9:8484266-8484266 C>T_PEKSYSFVLTNRENSAGGLQHRVTA
1:57189285-57189285 T>A	0.0	1913	MELANOMA	-	-	-	-	C1orf168	NM_001004303,p.E650D|ENST00000343433,p.E650D|uc001cym.4,p.E650D	retained_intron, protein_coding, processed_transcript	uc001cym.4	nonsynonymous SNV	exon17	c.A1950T	p.E650D	KQNLEKNRMKREEKLFRERFKYDKE	KQNLEKNRMKREDKLFRERFKYDKE	1.0	9.0	unscreened	-	1913_1:57189285-57189285 T>A_KQNLEKNRMKREDKLFRERFKYDKE
16:19468311-19468311 C>T	0.0	1913	MELANOMA	-	-	-	-	TMC5	uc002dge.4,p.P95S|uc002dgd.1,p.P95S|NM_024780,p.P95S|ENST00000219821,p.P95S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dge.4	nonsynonymous SNV	exon1	c.C283T	p.P95S	TLHSLECMGIDTPGSSHETVQGQKL	TLHSLECMGIDTSGSSHETVQGQKL	1.0	9.0	unscreened	-	1913_16:19468311-19468311 C>T_TLHSLECMGIDTSGSSHETVQGQKL
3:46937335-46937335 G>A	0.0	1913	MELANOMA	-	-	-	-	PTH1R	ENST00000428220,p.A97T|NM_000316,p.A97T|ENST00000313049,p.A97T|ENST00000430002,p.A97T|uc021wxg.1,p.A97T|NM_001184744,p.A97T|ENST00000427125,p.A97T|ENST00000449590,p.A97T|uc003cqm.3,p.A97T|ENST00000418619,p.A97T	protein_coding, processed_transcript, nonsense_mediated_decay	uc021wxg.1	nonsynonymous SNV	exon4	c.G289A	p.A97T	GKLYPESEEDKEAPTGSRYRGRPCL	GKLYPESEEDKETPTGSRYRGRPCL	3.0	9.0	unscreened	-	1913_3:46937335-46937335 G>A_GKLYPESEEDKETPTGSRYRGRPCL
21:10970014-10970014 T>A	0.0	1913	MELANOMA	-	-	-	-	TPTE	ENST00000298232,p.K38N|NM_199259,p.K38N|uc002yiq.1,p.K38N	protein_coding, processed_transcript	uc002yiq.1	nonsynonymous SNV	exon6	c.A114T	p.K38N	SEFKGATEEAPAKESVLARLSKFEV	SEFKGATEEAPANESVLARLSKFEV	1.0	2.0	unscreened	-	1913_21:10970014-10970014 T>A_SEFKGATEEAPANESVLARLSKFEV
9:124936816-124936816 C>T	0.0	1913	MELANOMA	-	-	ID=COSM136742;OCCURENCE=1(skin)	-	MORN5	uc011lyn.2,p.P117S|uc004blw.2,p.P117S|NM_198469,p.P117S|ENST00000536616,p.P117S|ENST00000373764,p.P117S	protein_coding, processed_transcript	uc011lyn.2	nonsynonymous SNV	exon4	c.C349T	p.P117S	AQLTNMDPPRKIPKGYYDCGDGFYN	AQLTNMDPPRKISKGYYDCGDGFYN	1.0	2.0	unscreened	-	1913_9:124936816-124936816 C>T_AQLTNMDPPRKISKGYYDCGDGFYN
6:55039521-55039521 G>A	0.0	1913	MELANOMA	-	-	-	-	HCRTR2	ENST00000370862,p.E46K|NM_001526,p.E46K|uc003pcl.3,p.E46K	protein_coding	uc003pcl.3	nonsynonymous SNV	exon1	c.G136A	p.E46K	YDDEEFLRYLWREYLHPKEYEWVLI	YDDEEFLRYLWRKYLHPKEYEWVLI	1.0	2.0	unscreened	-	1913_6:55039521-55039521 G>A_YDDEEFLRYLWRKYLHPKEYEWVLI
12:71033053-71033053 C>T	0.0	1913	MELANOMA	-	-	-	-	PTPRR	ENST00000378778,p.G423R|NM_002849,p.G629R|NM_130846,p.G384R|ENST00000549308,p.G384R|uc001swi.2,p.G629R|ENST00000283228,p.G629R|uc009zrs.3,p.G423R|NM_001207016,p.G423R|NM_001207015,p.G517R|uc010stq.2,p.G517R|uc001swh.2,p.G384R|ENST00000342084,p.G517R|ENST00000440835,p.G384R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010stq.2	nonsynonymous SNV	exon13	c.G1549A	p.G517R	LSIVCQLRMDRGGMVQTSEQYEFVH	LSIVCQLRMDRGRMVQTSEQYEFVH	1.0	3.0	unscreened	-	1913_12:71033053-71033053 C>T_LSIVCQLRMDRGRMVQTSEQYEFVH
21:42780032-42780032 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1714011;OCCURENCE=2(skin)	-	MX2	uc002yzg.1,p.R397C|ENST00000330714,p.R674C|NM_002463,p.R674C|uc010gop.1,p.R156C|uc002yzf.1,p.R674C	retained_intron, protein_coding, processed_transcript	uc010gop.1	nonsynonymous SNV	exon5	c.C466T	p.R156C	QKAMMQILQEKNRYSWLLQEQSETA	QKAMMQILQEKNCYSWLLQEQSETA	4.0	6.0	unscreened	-	1913_21:42780032-42780032 C>T_QKAMMQILQEKNCYSWLLQEQSETA
16:70866932-70866932 G>A	0.0	1913	MELANOMA	-	-	-	-	HYDIN	uc031qwy.1,p.S4573F|NM_001270974,p.S4573F|ENST00000393567,p.S4573F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon80	c.C13718T	p.S4573F	FKWDIKKFEPHFSISPEEGYITSGM	FKWDIKKFEPHFFISPEEGYITSGM	4.0	3.0	unscreened	-	1913_16:70866932-70866932 G>A_FKWDIKKFEPHFFISPEEGYITSGM
13:113826187-113826187 G>A	1.0	1913	MELANOMA	-	-	-	-	PROZ	NM_003891,p.G324E|ENST00000375547,p.G324E|uc001vta.2,p.G324E|uc010agr.2,p.G346E|NM_001256134,p.G346E|ENST00000342783,p.G346E	protein_coding, processed_transcript	uc010agr.2	nonsynonymous SNV	exon9	c.G1037A	p.G346E	NSLTTRPVTLVEGEECGQVLNVTVT	NSLTTRPVTLVEEEECGQVLNVTVT	1.0	9.0	unscreened	-	1913_13:113826187-113826187 G>A_NSLTTRPVTLVEEEECGQVLNVTVT
8:106646513-106646513 C>T	0.0	1913	MELANOMA	-	-	-	-	ZFPM2	ENST00000517361,p.P22S|ENST00000407775,p.P154S|uc003ymd.3,p.P154S|NM_012082,p.P154S|ENST00000520492,p.P22S	protein_coding, processed_transcript	uc003ymd.3	nonsynonymous SNV	exon5	c.C460T	p.P154S	TKAQVPMVLTAGPKWLLDVTWQGVE	TKAQVPMVLTAGSKWLLDVTWQGVE	1.0	7.0	unscreened	-	1913_8:106646513-106646513 C>T_TKAQVPMVLTAGSKWLLDVTWQGVE
5:11159743-11159743 G>A	0.0	1913	MELANOMA	-	-	-	2	CTNND2	ENST00000359640,p.R702W|ENST00000511377,p.R611W|uc011cmx.1,p.R269W|NM_001288717,p.R269W|uc003jfa.1,p.R702W|ENST00000503622,p.R365W|NM_001288716,p.R365W|uc010itt.2,p.R611W|ENST00000304623,p.R702W|ENST00000458100,p.R269W|uc011cmz.1,p.R269W|NM_001288715,p.R611W|NM_001332,p.R702W|ENST00000513588,p.R456W|uc011cmy.1,p.R365W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cmz.1	nonsynonymous SNV	exon11	c.C805T	p.R269W	HSGWENSPLQDDRKIQLHSSQVLRN	HSGWENSPLQDDWKIQLHSSQVLRN	1.0	7.0	unscreened	-	1913_5:11159743-11159743 G>A_HSGWENSPLQDDWKIQLHSSQVLRN
12:1988975-1988975 C>T	0.0	1913	MELANOMA	-	-	ID=COSM937794,COSM937795;OCCURENCE=1(endometrium)	-	CACNA2D4	ENST00000585732,p.E405K|ENST00000587995,p.E520K|ENST00000444595,p.E520K|ENST00000588077,p.E456K|ENST00000382722,p.E520K|ENST00000585708,p.E456K|uc021qsx.1,p.E520K|uc009zdt.1,p.E408K|NM_172364,p.E520K|ENST00000586184,p.E520K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qsx.1	nonsynonymous SNV	exon14	c.G1558A	p.E520K	TTVAMPVFSKKNETRSHGILLGVVG	TTVAMPVFSKKNKTRSHGILLGVVG	4.0	6.0	unscreened	-	1913_12:1988975-1988975 C>T_TTVAMPVFSKKNKTRSHGILLGVVG
18:44559744-44559744 C>T	0.0	1913	MELANOMA	-	-	-	-	TCEB3B	NM_016427,p.G631E|uc002lcr.1,p.G631E|ENST00000332567,p.G631E	protein_coding	uc002lcr.1	nonsynonymous SNV	exon1	c.G1892A	p.G631E	LRVMTTNIRSARGNNPNGREAKMIC	LRVMTTNIRSARENNPNGREAKMIC	1.0	9.0	unscreened	-	1913_18:44559744-44559744 C>T_LRVMTTNIRSARENNPNGREAKMIC
19:9091478-9091478 G>A	0.0	1913	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.P113S|ENST00000397910,p.P113S|NM_024690,p.P113S	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.C337T	p.P113S	TSPSLSPQVNGTPSRNYPATSMVSG	TSPSLSPQVNGTSSRNYPATSMVSG	1.0	9.0	unscreened	-	1913_19:9091478-9091478 G>A_TSPSLSPQVNGTSSRNYPATSMVSG
13:25670937-25670937 G>A	0.0	1913	MELANOMA	-	-	-	-	PABPC3	ENST00000281589,p.D201N|NM_030979,p.D201N|uc001upy.3,p.D201N	protein_coding	uc001upy.3	nonsynonymous SNV	exon1	c.G601A	p.D201N	EFPNVYIKNFGEDMDDERLKDLFGK	EFPNVYIKNFGENMDDERLKDLFGK	4.0	9.0	unscreened	-	1913_13:25670937-25670937 G>A_EFPNVYIKNFGENMDDERLKDLFGK
9:107332260-107332260 G>A	0.0	1913	MELANOMA	-	-	-	-	OR13C8	ENST00000335040,p.G271D|NM_001004483,p.G271D|uc011lvo.2,p.G271D	protein_coding	uc011lvo.2	nonsynonymous SNV	exon1	c.G812A	p.G271D	YAKPESKASVDSGNEDIIEALISLF	YAKPESKASVDSDNEDIIEALISLF	1.0	9.0	unscreened	-	1913_9:107332260-107332260 G>A_YAKPESKASVDSDNEDIIEALISLF
3:46450579-46450579 G>A	0.0	1913	MELANOMA	-	-	-	-	CCRL2	ENST00000400880,p.E337K|ENST00000400882,p.E337K|uc003cpp.4,p.E337K|ENST00000399036,p.E337K|uc010hjf.3,p.E337K|NM_001130910,p.E349K|uc010hjg.3,p.E349K|ENST00000357392,p.E349K|uc021wxc.1,p.E337K|NM_003965,p.E337K	protein_coding, processed_transcript	uc021wxc.1	nonsynonymous SNV	exon1	c.G1009A	p.E337K	PRGQSAQGTSREEPDHSTEV	PRGQSAQGTSREKPDHSTEV	1.0	7.0	unscreened	-	1913_3:46450579-46450579 G>A_PRGQSAQGTSREKPDHSTEV
17:32961840-32961840 G>A	0.0	1913	MELANOMA	-	-	-	-	TMEM132E	NM_207313,p.E481K|ENST00000321639,p.E481K|uc002hif.3,p.E481K	retained_intron, protein_coding	uc002hif.3	nonsynonymous SNV	exon8	c.G1441A	p.E481K	LPDRRSVRESEDEDEEEEERRQSAS	LPDRRSVRESEDKDEEEEERRQSAS	1.0	9.0	unscreened	-	1913_17:32961840-32961840 G>A_LPDRRSVRESEDKDEEEEERRQSAS
1:167096701-167096701 C>T	0.0	1913	MELANOMA	-	-	-	-	DUSP27	ENST00000443333,p.S778F|ENST00000271385,p.S778F|NM_001080426,p.S778F|ENST00000361200,p.S778F|uc001geb.1,p.S778F	protein_coding, processed_transcript	uc001geb.1	nonsynonymous SNV	exon5	c.C2333T	p.S778F	DQVSMLSGHSSSSLGGCLLPQSQAR	DQVSMLSGHSSSFLGGCLLPQSQAR	1.0	3.0	unscreened	-	1913_1:167096701-167096701 C>T_DQVSMLSGHSSSFLGGCLLPQSQAR
19:39361732-39361732 T>A	0.0	1913	MELANOMA	-	-	-	-	RINL	NM_001195833,p.Q196L|uc002ojq.3,p.Q82L|ENST00000598904,p.Q82L|ENST00000340740,p.Q82L|NM_198445,p.Q82L|ENST00000591812,p.Q196L|uc010xuo.2,p.Q196L	retained_intron, protein_coding, processed_transcript	uc010xuo.2	nonsynonymous SNV	exon7	c.A587T	p.Q196L	EQTPQETEPEAAQRHDPAPRNPAPH	EQTPQETEPEAALRHDPAPRNPAPH	5.0	5.0	unscreened	-	1913_19:39361732-39361732 T>A_EQTPQETEPEAALRHDPAPRNPAPH
5:35066030-35066030 C>T	0.0	1913	MELANOMA	-	-	-	-	PRLR	ENST00000382002,p.D344N|ENST00000342362,p.D243N|ENST00000511486,p.D243N|uc003jjl.4,p.D243N|NM_001204314,p.D243N|uc003jjm.3,p.D344N|NM_000949,p.D344N	protein_coding, processed_transcript, nonsense_mediated_decay	uc003jjm.3	nonsynonymous SNV	exon10	c.G1030A	p.D344N	EHPSQGMKPTYLDPDTDSGRGSCDS	EHPSQGMKPTYLNPDTDSGRGSCDS	1.0	9.0	unscreened	-	1913_5:35066030-35066030 C>T_EHPSQGMKPTYLNPDTDSGRGSCDS
19:12692512-12692512 T>C	0.0	1913	MELANOMA	-	-	-	-	ZNF490	uc002mtz.2,p.E126G|ENST00000311437,p.E126G|NM_020714,p.E126G|ENST00000440366,p.E73G	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mtz.2	nonsynonymous SNV	exon5	c.A377G	p.E126G	RNLRSPMVEALCENKEDCPCGKSTS	RNLRSPMVEALCGNKEDCPCGKSTS	4.0	2.0	unscreened	-	1913_19:12692512-12692512 T>C_RNLRSPMVEALCGNKEDCPCGKSTS
2:214878677-214878677 A>C	0.0	1913	MELANOMA	-	-	-	-	SPAG16	uc002ver.4,p.E414A|uc010zjk.3,p.E374A|uc010fuz.3,p.E319A|ENST00000374309,p.E374A|ENST00000331683,p.E468A|NM_024532,p.E468A|uc002veq.4,p.E468A	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zjk.3	nonsynonymous SNV	exon12	c.A1121C	p.E374A	LDKTSKIWDVNSERCRCTLYGHTDS	LDKTSKIWDVNSARCRCTLYGHTDS	1.0	5.0	unscreened	-	1913_2:214878677-214878677 A>C_LDKTSKIWDVNSARCRCTLYGHTDS
7:53103519-53103519 C>T	0.0	1913	MELANOMA	-	-	-	-	POM121L12	NM_182595,p.P52L|ENST00000408890,p.P52L|uc003tpz.3,p.P52L	protein_coding	uc003tpz.3	nonsynonymous SNV	exon1	c.C155T	p.P52L	PQTTPSPQGRQSPWPLRSLTQSHIQ	PQTTPSPQGRQSLWPLRSLTQSHIQ	1.0	4.0	unscreened	-	1913_7:53103519-53103519 C>T_PQTTPSPQGRQSLWPLRSLTQSHIQ
8:88885679-88885679 G>A	0.0	1913	MELANOMA	-	-	-	-	DCAF4L2	uc003ydz.3,p.P174L|NM_152418,p.P174L|ENST00000319675,p.P174L	protein_coding	uc003ydz.3	nonsynonymous SNV	exon1	c.C521T	p.P174L	SLFIGSFPGMRRPGMLCSFQIPDAW	SLFIGSFPGMRRLGMLCSFQIPDAW	3.0	5.0	unscreened	-	1913_8:88885679-88885679 G>A_SLFIGSFPGMRRLGMLCSFQIPDAW
11:74422016-74422016 G>A	0.0	1913	MELANOMA	-	-	-	-	CHRDL2	uc001ovh.3,p.L104F|ENST00000263671,p.L104F|uc001ovi.3,p.L104F|NM_015424,p.L104F|ENST00000528789,p.L104F|ENST00000534276,p.L84F|ENST00000376332,p.L104F|uc001ovk.1,p.L104F|NM_001278473,p.L104F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001ovk.1	nonsynonymous SNV	exon4	c.C310T	p.L104F	CPKCVEPHTPSGLRAPPKSCQHNGT	CPKCVEPHTPSGFRAPPKSCQHNGT	2.0	7.0	unscreened	-	1913_11:74422016-74422016 G>A_CPKCVEPHTPSGFRAPPKSCQHNGT
2:179433857-179433857 C>A	0.0	1913	MELANOMA	-	-	-	-	TTN	NM_133378,p.G23100C|NM_001267550,p.G25668C|uc021vsz.2,p.G16795C|ENST00000342175,p.G16795C|NM_133437,p.G16795C|ENST00000460472,p.G16603C|ENST00000359218,p.G16728C|uc021vtb.2,p.G16603C|uc031rqc.1,p.G25668C|ENST00000591111,p.G24027C|uc021vsy.2,p.G23100C|ENST00000589042,p.G25668C|NM_133432,p.G16728C|uc031rqd.1,p.G24027C|NM_001256850,p.G24027C|uc021vta.2,p.G16728C|NM_003319,p.G16603C|ENST00000342992,p.G23100C	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon276	c.G72079T	p.G24027C	HKNSWKIDQLQEGCSYYFRVTAENE	HKNSWKIDQLQECCSYYFRVTAENE	2.0	4.0	unscreened	-	1913_2:179433857-179433857 C>A_HKNSWKIDQLQECCSYYFRVTAENE
17:39723925-39723925 C>T	0.0	1913	MELANOMA	-	-	-	-	KRT9	ENST00000588431,p.G258E|NM_000226,p.G491E|ENST00000246662,p.G491E|uc002hxe.4,p.G491E	protein_coding	uc002hxe.4	nonsynonymous SNV	exon7	c.G1472A	p.G491E	GGSGGSYGRGSRGGSGGSYGGGGSG	GGSGGSYGRGSREGSGGSYGGGGSG	1.0	9.0	unscreened	-	1913_17:39723925-39723925 C>T_GGSGGSYGRGSREGSGGSYGGGGSG
6:127517004-127517004 A>C	0.0	1913	MELANOMA	-	-	-	1	RSPO3	ENST00000368317,p.N224T|uc003qar.3,p.N224T|ENST00000356698,p.N224T|uc003qas.1,p.N224T|NM_032784,p.N224T	protein_coding, processed_transcript	uc003qas.1	nonsynonymous SNV	exon5	c.A671C	p.N224T	GKKGRERKRKKPNKGESKEAIPDSK	GKKGRERKRKKPTKGESKEAIPDSK	1.0	1.0	unscreened	-	1913_6:127517004-127517004 A>C_GKKGRERKRKKPTKGESKEAIPDSK
2:179615435-179615435 C>T	0.0	1913	MELANOMA	-	-	-	-	TTN	ENST00000360870,p.E3898K|NM_133379,p.E3898K|uc002unb.3,p.E3898K	retained_intron, protein_coding	uc002unb.3	nonsynonymous SNV	exon46	c.G11692A	p.E3898K	LVNVEESEEIASERIKKDDLRELQL	LVNVEESEEIASKRIKKDDLRELQL	2.0	2.0	unscreened	-	1913_2:179615435-179615435 C>T_LVNVEESEEIASKRIKKDDLRELQL
4:71275116-71275116 T>C	0.0	1913	MELANOMA	-	-	-	-	PROL1	uc003hfi.3,p.F24S|NM_021225,p.F24S|ENST00000399575,p.F24S	protein_coding, processed_transcript	uc003hfi.3	nonsynonymous SNV	exon3	c.T71C	p.F24S	LISCFTPSESQRFSRRPYLPGQLPP	LISCFTPSESQRSSRRPYLPGQLPP	1.0	9.0	unscreened	-	1913_4:71275116-71275116 T>C_LISCFTPSESQRSSRRPYLPGQLPP
X:107869470-107869470 C>T	0.0	1913	MELANOMA	-	-	-	-	COL4A5	uc004eob.1,p.P654L|uc022ccg.2,p.P1046L|uc004enz.2,p.P1046L|ENST00000328300,p.P1046L|NM_000495,p.P1046L|ENST00000361603,p.P1046L	retained_intron, protein_coding, processed_transcript	uc022ccg.2	nonsynonymous SNV	exon36	c.C3137T	p.P1046L	FPGPQGVEGPPGPSGVPGQPGSPGL	FPGPQGVEGPPGLSGVPGQPGSPGL	1.0	9.0	unscreened	-	1913_X:107869470-107869470 C>T_FPGPQGVEGPPGLSGVPGQPGSPGL
20:31671466-31671466 G>A	0.0	1913	MELANOMA	-	-	-	-	BPIFB4	NM_182519,p.G155R|uc010zue.2,p.G155R|ENST00000375483,p.G155R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zue.2	nonsynonymous SNV	exon3	c.G463A	p.G155R	PVGRLHRRELQPGEIPPGVATGAVG	PVGRLHRRELQPREIPPGVATGAVG	3.0	7.0	unscreened	-	1913_20:31671466-31671466 G>A_PVGRLHRRELQPREIPPGVATGAVG
1:152276524-152276524 G>A	1.0	1913	MELANOMA	-	-	-	-	FLG	NM_002016,p.S3613L|uc001ezu.1,p.S3613L|ENST00000368799,p.S3613L	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.C10838T	p.S3613L	HHAENSSGGQAASSHEQARSSAGER	HHAENSSGGQAALSHEQARSSAGER	3.0	3.0	unscreened	-	1913_1:152276524-152276524 G>A_HHAENSSGGQAALSHEQARSSAGER
4:88534324-88534324 C>T	0.0	1913	MELANOMA	-	-	-	-	DSPP	uc003hqu.3,p.S329F|NM_014208,p.S329F|ENST00000282478,p.S329F|ENST00000399271,p.S329F	protein_coding	uc003hqu.3	nonsynonymous SNV	exon4	c.C986T	p.S329F	VDGDKTSKSEENSAGIPEDNGSQRI	VDGDKTSKSEENFAGIPEDNGSQRI	1.0	9.0	unscreened	-	1913_4:88534324-88534324 C>T_VDGDKTSKSEENFAGIPEDNGSQRI
4:126412660-126412660 G>A	0.0	1913	MELANOMA	-	-	ID=COSM393647,COSM393646;OCCURENCE=1(lung)	1	FAT4	NM_001291303,p.G4897S|ENST00000335110,p.G3136S|uc011cgp.2,p.G3136S|NM_001291285,p.G4896S|NM_024582,p.G4895S|uc003ifi.1,p.G2372S|ENST00000394329,p.G4895S|uc003ifj.4,p.G4895S	retained_intron, protein_coding	uc011cgp.2	nonsynonymous SNV	exon15	c.G9406A	p.G3136S	NYGARLKPRRYHGRRAEGGPVGTQA	NYGARLKPRRYHSRRAEGGPVGTQA	1.0	9.0	unscreened	-	1913_4:126412660-126412660 G>A_NYGARLKPRRYHSRRAEGGPVGTQA
19:49813081-49813081 G>A	1.0	1913	MELANOMA	-	-	-	-	SLC6A16	NM_014037,p.P235S|uc002pmz.3,p.P235S|ENST00000454748,p.P235S|ENST00000335875,p.P235S|uc002pna.3,p.P235S	retained_intron, protein_coding	uc002pna.3	nonsynonymous SNV	exon5	c.C703T	p.P235S	KCPLTMNSSGFDPECERTTPSIYFW	KCPLTMNSSGFDSECERTTPSIYFW	5.0	8.0	unscreened	-	1913_19:49813081-49813081 G>A_KCPLTMNSSGFDSECERTTPSIYFW
1:182555769-182555769 C>T	1.0	1913	MELANOMA	-	-	-	-	RNASEL	uc009wya.1,p.G58E|uc009wxz.2,p.G58E|ENST00000539397,p.G58E|ENST00000367559,p.G58E|NM_021133,p.G58E|uc001gpk.3,p.G58E|ENST00000444138,p.G58E	protein_coding	uc009wya.1	nonsynonymous SNV	exon1	c.G173A	p.G58E	EGGANVNFQEEEGGWTPLHNAVQMS	EGGANVNFQEEEEGWTPLHNAVQMS	5.0	8.0	unscreened	-	1913_1:182555769-182555769 C>T_EGGANVNFQEEEEGWTPLHNAVQMS
5:71493624-71493624 T>C	1.0	1913	MELANOMA	-	-	-	-	MAP1B	uc010iyw.1,p.V1498A|uc010iyx.1,p.V1355A|uc003kbw.4,p.V1481A|ENST00000296755,p.V1481A|uc010iyy.1,p.V1355A|NM_005909,p.V1481A	protein_coding, processed_transcript, nonsense_mediated_decay	uc010iyy.1	nonsynonymous SNV	exon4	c.T4064C	p.V1355A	KEDFGQEKKTDDVEAMSSQPALALD	KEDFGQEKKTDDAEAMSSQPALALD	8.0	3.0	unscreened	-	1913_5:71493624-71493624 T>C_KEDFGQEKKTDDAEAMSSQPALALD
11:51412373-51412373 G>T	0.0	1913	MELANOMA	-	-	-	-	OR4A5	NM_001005272,p.T8K|ENST00000319760,p.T8K|uc001nhi.2,p.T8K	protein_coding	uc001nhi.2	nonsynonymous SNV	exon1	c.C23A	p.T8K	MRQNNNITEFVLLGFSQDPG	MRQNNNIKEFVLLGFSQDPG	1.0	8.0	unscreened	-	1913_11:51412373-51412373 G>T_MRQNNNIKEFVLLGFSQDPG
15:59384787-59384787 G>A	1.0	1913	MELANOMA	-	-	-	-	RNF111	NM_017610,p.E931K|uc002afv.4,p.E939K|ENST00000559209,p.E940K|ENST00000348370,p.E931K|uc002afx.4,p.E465K|NM_001270529,p.E930K|uc002afu.4,p.E930K|uc002afs.4,p.E931K|uc002aft.4,p.E940K|ENST00000434298,p.E948K|uc002afy.4,p.E82K|ENST00000557998,p.E939K|NM_001270528,p.E940K|NM_001270530,p.E939K|uc002afw.4,p.E948K|ENST00000561186,p.E948K	retained_intron, protein_coding, processed_transcript	uc002afy.4	nonsynonymous SNV	exon4	c.G244A	p.E82K	KQDGEEGTEEDTEEKCTICLSILEE	KQDGEEGTEEDTKEKCTICLSILEE	8.0	8.0	unscreened	-	1913_15:59384787-59384787 G>A_KQDGEEGTEEDTKEKCTICLSILEE
X:3241612-3241612 C>T	0.0	1913	MELANOMA	-	-	-	-	MXRA5	NM_015419,p.G705E|uc004crg.4,p.G705E|ENST00000217939,p.G705E	protein_coding	uc004crg.4	nonsynonymous SNV	exon5	c.G2114A	p.G705E	EDIVEDEGGSGMGDEENTSRRLLHP	EDIVEDEGGSGMEDEENTSRRLLHP	1.0	9.0	unscreened	-	1913_X:3241612-3241612 C>T_EDIVEDEGGSGMEDEENTSRRLLHP
1:240635710-240635710 G>A	0.0	1913	MELANOMA	-	-	-	-	FMN2	ENST00000543681,p.G20E|NM_020066,p.G1700E|uc010pyg.2,p.G296E|ENST00000319653,p.G1700E|uc010pye.2,p.G1704E|uc010pyd.2,p.G1700E|ENST00000545751,p.G296E	protein_coding, processed_transcript	uc010pyg.2	nonsynonymous SNV	exon10	c.G887A	p.G296E	VKEAEEVCRQKKGKSLYKIKPRHDS	VKEAEEVCRQKKEKSLYKIKPRHDS	1.0	1.0	unscreened	-	1913_1:240635710-240635710 G>A_VKEAEEVCRQKKEKSLYKIKPRHDS
8:110984850-110984850 G>A	0.0	1913	MELANOMA	-	-	-	-	KCNV1	ENST00000297404,p.R210C|NM_014379,p.R210C|uc010mcw.3,p.R210C|ENST00000524391,p.R210C|uc003ynr.4,p.R210C	protein_coding	uc010mcw.3	nonsynonymous SNV	exon3	c.C628T	p.R210C	NILEKPGSSTAARIFGVISIIFVVV	NILEKPGSSTAACIFGVISIIFVVV	1.0	6.0	unscreened	-	1913_8:110984850-110984850 G>A_NILEKPGSSTAACIFGVISIIFVVV
7:107204418-107204418 C>T	0.0	1913	MELANOMA	-	-	-	-	COG5	ENST00000347053,p.G6E|uc003vee.2,p.G6E|NM_001161520,p.G6E|NM_181733,p.G6E|uc003vec.2,p.G6E|ENST00000393603,p.G6E|ENST00000297135,p.G6E|NM_006348,p.G6E|uc003ved.2,p.G6E	retained_intron, protein_coding, processed_transcript	uc003vee.2	nonsynonymous SNV	exon1	c.G17A	p.G6E	MGWVGGRRRDSASPPGRS	MGWVGERRRDSASPPGRS	8.0	8.0	unscreened	-	1913_7:107204418-107204418 C>T_MGWVGERRRDSASPPGRS
11:22387146-22387146 C>T	0.0	1913	MELANOMA	-	-	-	-	SLC17A6	NM_020346,p.P268S|ENST00000263160,p.P268S|uc001mqk.3,p.P268S	retained_intron, protein_coding	uc001mqk.3	nonsynonymous SNV	exon7	c.C802T	p.P268S	WYMFWLLVSYESPAKHPTITDEERR	WYMFWLLVSYESSAKHPTITDEERR	1.0	8.0	unscreened	-	1913_11:22387146-22387146 C>T_WYMFWLLVSYESSAKHPTITDEERR
11:2424476-2424476 C>T	1.0	1913	MELANOMA	-	-	-	-	TSSC4	NM_005706,p.P205S|ENST00000451491,p.P205S|NM_001297658,p.P205S|ENST00000380996,p.P141S|NM_001297661,p.P141S|uc001lwk.3,p.P205S|ENST00000440813,p.P141S|NM_001297659,p.P205S|uc001lwl.3,p.P205S|NM_001297660,p.P205S|ENST00000333256,p.P205S|uc001lwi.3,p.P141S|uc021qcg.1,p.P205S	protein_coding, processed_transcript	uc021qcg.1	nonsynonymous SNV	exon1	c.C613T	p.P205S	APTDCVSSFNQDPSSCGEGRVIFTK	APTDCVSSFNQDSSSCGEGRVIFTK	9.0	3.0	unscreened	-	1913_11:2424476-2424476 C>T_APTDCVSSFNQDSSSCGEGRVIFTK
7:92099062-92099062 C>T	0.0	1913	MELANOMA	-	-	-	-	GATAD1,PEX1	ENST00000603053,p.E212K|ENST00000493463,p.E212K|uc022ahe.1,p.E212K	protein_coding	uc022ahe.1	nonsynonymous SNV	exon1	c.G634A	p.E212K	IPVPEQWNNFSTEINTTSVLVGPLV	IPVPEQWNNFSTKINTTSVLVGPLV	1.0	6.0	unscreened	-	1913_7:92099062-92099062 C>T_IPVPEQWNNFSTKINTTSVLVGPLV
2:232392896-232392896 G>A	0.0	1913	MELANOMA	-	-	-	-	NMUR1	NM_006056,p.S279F|ENST00000305141,p.S279F|uc002vry.4,p.S279F	protein_coding	uc002vry.4	nonsynonymous SNV	exon2	c.C836T	p.S279F	QEAKGRGSAAARSRYTCRLQQHDRG	QEAKGRGSAAARFRYTCRLQQHDRG	1.0	7.0	unscreened	-	1913_2:232392896-232392896 G>A_QEAKGRGSAAARFRYTCRLQQHDRG
3:154055636-154055636 C>T	0.0	1913	MELANOMA	-	-	-	-	GPR149	NM_001038705,p.G683D|uc003faa.3,p.G683D|ENST00000389740,p.G683D	protein_coding	uc003faa.3	nonsynonymous SNV	exon4	c.G2048A	p.G683D	SYSLFLPTSNPDGDINISIPDTVEA	SYSLFLPTSNPDDDINISIPDTVEA	1.0	8.0	unscreened	-	1913_3:154055636-154055636 C>T_SYSLFLPTSNPDDDINISIPDTVEA
8:52384783-52384783 C>T	0.0	1913	MELANOMA	-	-	-	-	PXDNL	ENST00000543296,p.G259E|ENST00000356297,p.G259E|uc003xqu.4,p.G259E|NM_144651,p.G259E	retained_intron, protein_coding, nonsense_mediated_decay	uc003xqu.4	nonsynonymous SNV	exon8	c.G776A	p.G259E	SGNTVYFTCRAEGNPKPEIIWIHNN	SGNTVYFTCRAEENPKPEIIWIHNN	1.0	5.0	unscreened	-	1913_8:52384783-52384783 C>T_SGNTVYFTCRAEENPKPEIIWIHNN
3:120998780-120998780 G>A	0.0	1913	MELANOMA	-	-	-	-	STXBP5L	ENST00000471454,p.R696Q|uc011bji.2,p.R696Q|ENST00000472879,p.R696Q	protein_coding, nonsense_mediated_decay	uc011bji.2	nonsynonymous SNV	exon19	c.G2087A	p.R696Q	SSDLYQRQPRSPRKNKQFIAGLTEL	SSDLYQRQPRSPQKNKQFIAGLTEL	1.0	9.0	unscreened	-	1913_3:120998780-120998780 G>A_SSDLYQRQPRSPQKNKQFIAGLTEL
5:140580738-140580738 A>G	0.0	1913	MELANOMA	-	-	-	-	PCDHB11	ENST00000354757,p.N464S|uc003liy.3,p.N464S|ENST00000536699,p.N99S|NM_018931,p.N464S	protein_coding	uc003liy.3	nonsynonymous SNV	exon1	c.A1391G	p.N464S	TQTSYTLFVRENNSPALHIGSVSAT	TQTSYTLFVRENSSPALHIGSVSAT	2.0	8.0	unscreened	-	1913_5:140580738-140580738 A>G_TQTSYTLFVRENSSPALHIGSVSAT
7:7472154-7472154 C>T	0.0	1913	MELANOMA	-	-	-	-	COL28A1	uc003srd.3,p.G205R|uc011jxe.1,p.G333R|NM_001037763,p.G650R|ENST00000399429,p.G650R|uc003sre.1,p.G71R|ENST00000435823,p.G67R|uc003src.1,p.G650R	retained_intron, protein_coding, nonsense_mediated_decay	uc011jxe.1	nonsynonymous SNV	exon26	c.G997A	p.G333R	GYPGVPGPRGLPGPPGPMGLRGVGD	GYPGVPGPRGLPRPPGPMGLRGVGD	3.0	4.0	unscreened	-	1913_7:7472154-7472154 C>T_GYPGVPGPRGLPRPPGPMGLRGVGD
21:45859007-45859007 G>A	0.0	1913	MELANOMA	-	-	-	-	TRPM2	uc002zeu.1,p.E1409K|NM_003307,p.E1409K|ENST00000397928,p.E1409K|uc002zex.1,p.E1195K|uc002zew.1,p.E1409K|ENST00000300481,p.E1355K|uc002zet.1,p.E1409K|uc010gpt.1,p.E1459K|uc002zey.1,p.E888K|ENST00000397932,p.E1459K|uc011aff.1,p.E90K|ENST00000300482,p.E1409K	protein_coding, processed_transcript	uc011aff.1	nonsynonymous SNV	exon5	c.G268A	p.E90K	MLPRKLKRILRQEHWPSFENLLKCG	MLPRKLKRILRQKHWPSFENLLKCG	1.0	5.0	unscreened	-	1913_21:45859007-45859007 G>A_MLPRKLKRILRQKHWPSFENLLKCG
3:120998780-120998780 G>A	0.0	1913	MELANOMA	-	-	-	-	STXBP5L	ENST00000497029,p.R696Q|ENST00000471262,p.R696Q|ENST00000273666,p.R696Q|uc003eec.4,p.R696Q|ENST00000492541,p.R696Q|NM_014980,p.R696Q	protein_coding, nonsense_mediated_decay	uc003eec.4	nonsynonymous SNV	exon19	c.G2087A	p.R696Q	SSDLYQRQPRSPRKNKQFIADNFCM	SSDLYQRQPRSPQKNKQFIADNFCM	1.0	9.0	unscreened	-	1913_3:120998780-120998780 G>A_SSDLYQRQPRSPQKNKQFIADNFCM
2:179598476-179598476 T>A	0.0	1913	MELANOMA	-	-	-	-	TTN	uc002umz.1,p.I631F|ENST00000589042,p.I5214F|ENST00000342992,p.I3970F|NM_001256850,p.I4897F|NM_001267550,p.I5214F|uc031rqc.1,p.I5214F|uc021vsy.2,p.I3970F|uc031rqd.1,p.I4897F|ENST00000591111,p.I4897F|NM_133378,p.I3970F	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon51	c.A14689T	p.I4897F	MKGQEVIREDGKIKMSFSNGVAVLI	MKGQEVIREDGKFKMSFSNGVAVLI	2.0	5.0	unscreened	-	1913_2:179598476-179598476 T>A_MKGQEVIREDGKFKMSFSNGVAVLI
12:119909910-119909910 A>T	0.0	1913	MELANOMA	-	-	-	-	CCDC60	NM_178499,p.R94S|ENST00000327554,p.R94S|uc001txe.3,p.R94S	protein_coding, processed_transcript	uc001txe.3	nonsynonymous SNV	exon3	c.A282T	p.R94S	KQQQLQKLKEEERNKFQPAEKISEI	KQQQLQKLKEEESNKFQPAEKISEI	1.0	9.0	unscreened	-	1913_12:119909910-119909910 A>T_KQQQLQKLKEEESNKFQPAEKISEI
12:25297303-25297303 T>A	0.0	1913	MELANOMA	-	-	-	-	CASC1	uc001rgj.3,p.K287I|uc010sjg.1,p.K327I|NM_001204102,p.K287I|NM_018272,p.K333I|NM_001204101,p.K268I|NM_001082972,p.K391I|uc010sje.2,p.K268I|ENST00000395987,p.K333I|uc001rgl.3,p.K327I|ENST00000537577,p.K215I|ENST00000320267,p.K327I|ENST00000395990,p.K287I|uc001rgk.3,p.K333I|uc001rgm.4,p.K391I|ENST00000354189,p.K391I|uc010sjf.2,p.K215I|ENST00000545133,p.K268I|NM_001082973,p.K327I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sjg.1	nonsynonymous SNV	exon8	c.A980T	p.K327I	IKVEEEQGDIEVKMSSAEEESEAIK	IKVEEEQGDIEVIMSSAEEESEAIK	1.0	2.0	unscreened	-	1913_12:25297303-25297303 T>A_IKVEEEQGDIEVIMSSAEEESEAIK
12:41352944-41352944 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1361490;OCCURENCE=1(large_intestine)	-	CNTN1	uc009zjy.3,p.R571Q|ENST00000547702,p.R571Q|ENST00000347616,p.R571Q|ENST00000551295,p.R571Q|ENST00000547849,p.R571Q|NM_001256064,p.R571Q|NM_001843,p.R571Q|NM_175038,p.R560Q|uc001rmm.2,p.R571Q|uc001rmo.4,p.R571Q|ENST00000360099,p.R571Q|NM_001256063,p.R571Q|uc031qgz.1,p.R560Q|ENST00000348761,p.R560Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc031qgz.1	nonsynonymous SNV	exon13	c.G1679A	p.R560Q	NFMLDSNGELLIRNAQLKHAGRYTC	NFMLDSNGELLIQNAQLKHAGRYTC	3.0	3.0	unscreened	-	1913_12:41352944-41352944 G>A_NFMLDSNGELLIQNAQLKHAGRYTC
12:81610752-81610752 G>A	0.0	1913	MELANOMA	-	-	-	-	ACSS3	ENST00000548324,p.G158E|ENST00000548058,p.G476E|uc001szm.1,p.G475E|ENST00000261206,p.G475E|uc001szl.1,p.G476E|uc001szn.1,p.G158E|NM_024560,p.G476E	retained_intron, protein_coding, nonsense_mediated_decay	uc001szn.1	nonsynonymous SNV	exon5	c.G473A	p.G158E	LGNSKTPPPGQAGKSVPGYNVMILD	LGNSKTPPPGQAEKSVPGYNVMILD	1.0	8.0	unscreened	-	1913_12:81610752-81610752 G>A_LGNSKTPPPGQAEKSVPGYNVMILD
19:58096321-58096321 T>C	0.0	1913	MELANOMA	-	-	-	-	ZIK1	ENST00000597850,p.V12A|NM_001010879,p.V12A|uc002qpg.3,p.V12A	protein_coding, processed_transcript	uc002qpg.3	nonsynonymous SNV	exon2	c.T35C	p.V12A	MAAAALRAPTQVTVSPETHMDLTK	MAAAALRAPTQATVSPETHMDLTK	2.0	5.0	unscreened	-	1913_19:58096321-58096321 T>C_MAAAALRAPTQATVSPETHMDLTK
12:48143554-48143554 C>T	0.0	1913	MELANOMA	-	-	-	-	RAPGEF3	ENST00000495465,p.R103K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000495465	nonsynonymous SNV	exon4	c.G308A	p.R103K	RGTRALRGTLSGRDLSTW	RGTRALRGTLSGKDLSTW	3.0	7.0	unscreened	-	1913_12:48143554-48143554 C>T_RGTRALRGTLSGKDLSTW
7:144060730-144060730 G>A	0.0	1913	MELANOMA	-	-	-	-	ARHGEF5	NM_005435,p.G323E|uc003wel.3,p.G323E|uc003wek.3,p.G323E|ENST00000056217,p.G323E	protein_coding	uc003wel.3	nonsynonymous SNV	exon2	c.G968A	p.G323E	ERKAQGQGGPEQGEERKRELQVPEE	ERKAQGQGGPEQEEERKRELQVPEE	1.0	9.0	unscreened	-	1913_7:144060730-144060730 G>A_ERKAQGQGGPEQEEERKRELQVPEE
19:9089431-9089431 G>A	0.0	1913	MELANOMA	-	-	-	2	MUC16	NM_024690,p.P795L|ENST00000397910,p.P795L|uc002mkp.3,p.P795L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.C2384T	p.P795L	ERVRNATSPLTHPSPSGEETAGSVL	ERVRNATSPLTHLSPSGEETAGSVL	1.0	9.0	unscreened	-	1913_19:9089431-9089431 G>A_ERVRNATSPLTHLSPSGEETAGSVL
5:1401043-1401043 A>G	0.0	1913	MELANOMA	-	-	-	-	SLC6A3	uc003jck.3,p.V609A|ENST00000270349,p.V609A|NM_001044,p.V609A|ENST00000453492,p.V609A	retained_intron, protein_coding	uc003jck.3	nonsynonymous SNV	exon14	c.T1826C	p.V609A	PEKDRELVDRGEVRQFTLRHWLKV	PEKDRELVDRGEARQFTLRHWLKV	1.0	2.0	unscreened	-	1913_5:1401043-1401043 A>G_PEKDRELVDRGEARQFTLRHWLKV
3:151474945-151474945 G>A	0.0	1913	MELANOMA	-	-	-	-	AADACL2	uc010hvn.3,p.D44N|ENST00000356517,p.D257N|NM_207365,p.D257N|uc003ezc.3,p.D257N	protein_coding, nonsense_mediated_decay	uc010hvn.3	nonsynonymous SNV	exon4	c.G130A	p.D44N	VAIKLVSLYFTKDEALPWAMRRNQH	VAIKLVSLYFTKNEALPWAMRRNQH	1.0	4.0	unscreened	-	1913_3:151474945-151474945 G>A_VAIKLVSLYFTKNEALPWAMRRNQH
8:2796226-2796226 C>T	0.0	1913	MELANOMA	-	-	-	-	CSMD1	ENST00000602723,p.E3350K|NM_033225,p.E3526K|ENST00000520002,p.E3527K|uc010lrg.3,p.E1418K|ENST00000537824,p.E3526K|ENST00000542608,p.E3349K|uc011kwj.2,p.E2841K|ENST00000400186,p.E3350K|uc022aqr.1,p.E3526K|ENST00000602557,p.E3527K	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon70	c.G10576A	p.E3526K	RPKVQYNGYAGHENSNGQASFENPM	RPKVQYNGYAGHKNSNGQASFENPM	1.0	3.0	unscreened	-	1913_8:2796226-2796226 C>T_RPKVQYNGYAGHKNSNGQASFENPM
13:32332529-32332529 G>A	0.0	1913	MELANOMA	-	-	ID=COSM3417515;OCCURENCE=1(large_intestine)	-	RXFP2	NM_130806,p.E77K|ENST00000298386,p.E77K|ENST00000380314,p.E77K|uc001utt.3,p.E77K|NM_001166058,p.E77K|uc010aba.3,p.E77K	protein_coding	uc010aba.3	nonsynonymous SNV	exon2	c.G229A	p.E77K	CDGKDDCGNGADEENCGDTSGWATI	CDGKDDCGNGADKENCGDTSGWATI	1.0	9.0	unscreened	-	1913_13:32332529-32332529 G>A_CDGKDDCGNGADKENCGDTSGWATI
11:78516406-78516406 C>T	0.0	1913	MELANOMA	-	-	-	-	TENM4	uc001ozl.4,p.G704R|ENST00000278550,p.G704R|NM_001098816,p.G704R	retained_intron, protein_coding, processed_transcript	uc001ozl.4	nonsynonymous SNV	exon15	c.G2110A	p.G704R	PRATCLDQCSGHGTFLPDTGLCSCD	PRATCLDQCSGHRTFLPDTGLCSCD	1.0	6.0	unscreened	-	1913_11:78516406-78516406 C>T_PRATCLDQCSGHRTFLPDTGLCSCD
15:83926225-83926225 C>T	0.0	1913	MELANOMA	-	-	-	-	BNC1	NM_001301206,p.S978N|ENST00000569704,p.S978N|NM_001717,p.S985N|ENST00000345382,p.S985N|uc002bjt.1,p.S985N|uc010uos.1,p.S973N	protein_coding	uc010uos.1	nonsynonymous SNV	exon5	c.G2918A	p.S973N	RNRHSQNPNLHKSLASSPSHLQ	RNRHSQNPNLHKNLASSPSHLQ	1.0	2.0	unscreened	-	1913_15:83926225-83926225 C>T_RNRHSQNPNLHKNLASSPSHLQ
18:9887812-9887812 G>A	0.0	1913	MELANOMA	-	-	-	-	TXNDC2	uc021ugx.1,p.E379K|NM_001098529,p.E446K|ENST00000357775,p.E379K|uc002koi.4,p.E446K|ENST00000306084,p.E446K|uc002koh.4,p.E379K|NM_032243,p.E379K	protein_coding, processed_transcript	uc021ugx.1	nonsynonymous SNV	exon1	c.G1135A	p.E379K	ILKPEEETMEFPEGDKVKVILSKED	ILKPEEETMEFPKGDKVKVILSKED	3.0	7.0	unscreened	-	1913_18:9887812-9887812 G>A_ILKPEEETMEFPKGDKVKVILSKED
9:78710931-78710931 A>T	0.0	1913	MELANOMA	-	-	-	-	PCSK5	NM_001190482,p.E340D|ENST00000376767,p.E340D|ENST00000424854,p.E13D|ENST00000376752,p.E340D|uc004ajz.3,p.E340D|uc004ajy.2,p.E340D|ENST00000545128,p.E340D|uc004akc.2,p.E340D|NM_006200,p.E340D	protein_coding	uc004akc.2	nonsynonymous SNV	exon8	c.A1020T	p.E340D	NSIYTISISSTAESGKKPWYLEECS	NSIYTISISSTADSGKKPWYLEECS	3.0	2.0	unscreened	-	1913_9:78710931-78710931 A>T_NSIYTISISSTADSGKKPWYLEECS
3:16535321-16535321 A>T	0.0	1913	MELANOMA	-	-	-	-	RFTN1	uc003cay.3,p.I19N|NM_015150,p.I19N|ENST00000449415,p.I19N|ENST00000453536,p.I19N|ENST00000431547,p.I19N|ENST00000451036,p.I19N|ENST00000334133,p.I19N|ENST00000441460,p.I19N	protein_coding, processed_transcript, nonsense_mediated_decay	uc003cay.3	nonsynonymous SNV	exon2	c.T56A	p.I19N	KLEKRDEKRPGNIYSTLKRPQVETK	KLEKRDEKRPGNNYSTLKRPQVETK	1.0	2.0	unscreened	-	1913_3:16535321-16535321 A>T_KLEKRDEKRPGNNYSTLKRPQVETK
8:3087597-3087597 C>G	0.0	1913	MELANOMA	-	-	-	-	CSMD1	ENST00000602723,p.R1438P|ENST00000537824,p.R1437P|NM_033225,p.R1437P|uc022aqr.1,p.R1437P|ENST00000602557,p.R1438P|ENST00000400186,p.R1438P|uc003wqe.3,p.R594P|ENST00000520002,p.R1438P|ENST00000539096,p.R1437P|uc011kwj.2,p.R830P|ENST00000542608,p.R1437P	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon27	c.G4310C	p.R1437P	GQAKITCVQLNNRFFWQPDPPTCIA	GQAKITCVQLNNPFFWQPDPPTCIA	1.0	7.0	unscreened	-	1913_8:3087597-3087597 C>G_GQAKITCVQLNNPFFWQPDPPTCIA
4:6377607-6377607 C>T	0.0	1913	MELANOMA	-	-	-	-	PPP2R2C	NM_001206995,p.G122E|uc003gjc.3,p.G129E|uc003gja.3,p.G129E|ENST00000335585,p.G129E|uc011bwd.2,p.G122E|NM_181876,p.G129E|uc011bwe.2,p.G122E|NM_001206996,p.G112E|ENST00000515571,p.G112E|ENST00000507294,p.G122E|NM_001206994,p.G122E|uc003gjb.3,p.G112E|ENST00000382599,p.G129E|uc003gjd.1,p.G217E|ENST00000506140,p.G122E|NM_020416,p.G129E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bwe.2	nonsynonymous SNV	exon5	c.G365A	p.G122E	LWKITERDKRPEGYNLKDEEGKLKD	LWKITERDKRPEEYNLKDEEGKLKD	1.0	9.0	unscreened	-	1913_4:6377607-6377607 C>T_LWKITERDKRPEEYNLKDEEGKLKD
1:155448832-155448832 G>A	1.0	1913	MELANOMA	-	-	-	-	ASH1L	ENST00000392403,p.P1277S|uc009wqr.1,p.P1277S|ENST00000368346,p.P1277S|NM_018489,p.P1277S|uc001fkt.3,p.P1277S|uc009wqq.3,p.P1277S	retained_intron, protein_coding, nonsense_mediated_decay	uc009wqr.1	nonsynonymous SNV	exon4	c.C3829T	p.P1277S	MKRQKRKRKKKYPQLRNRQDPDFIA	MKRQKRKRKKKYSQLRNRQDPDFIA	7.0	9.0	unscreened	-	1913_1:155448832-155448832 G>A_MKRQKRKRKKKYSQLRNRQDPDFIA
11:55761821-55761821 A>G	0.0	1913	MELANOMA	-	-	-	-	OR5F1	ENST00000278409,p.F94S|uc010riv.2,p.F94S|NM_003697,p.F94S	protein_coding	uc010riv.2	nonsynonymous SNV	exon1	c.T281C	p.F94S	LADLLSEKKTISFAGCFLQMYFFIS	LADLLSEKKTISSAGCFLQMYFFIS	1.0	2.0	unscreened	-	1913_11:55761821-55761821 A>G_LADLLSEKKTISSAGCFLQMYFFIS
4:94693626-94693626 C>T	0.0	1913	MELANOMA	-	-	-	-	GRID2	uc011cdu.2,p.P906S|uc011cdt.2,p.P1001S|NM_001286838,p.P906S|NM_001510,p.P1001S|ENST00000510992,p.P906S|ENST00000282020,p.P1001S	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cdu.2	nonsynonymous SNV	exon15	c.C2716T	p.P906S	PTPTLGLNLGNDPDRGTSI	PTPTLGLNLGNDSDRGTSI	1.0	9.0	unscreened	-	1913_4:94693626-94693626 C>T_PTPTLGLNLGNDSDRGTSI
9:35674140-35674140 G>A	0.0	1913	MELANOMA	-	-	-	-	CA9	uc003zxo.4,p.E62K|ENST00000378357,p.E62K|NM_001216,p.E62K	protein_coding, processed_transcript	uc003zxo.4	nonsynonymous SNV	exon1	c.G184A	p.E62K	GGGSSGEDDPLGEEDLPSEEDSPRE	GGGSSGEDDPLGKEDLPSEEDSPRE	1.0	9.0	unscreened	-	1913_9:35674140-35674140 G>A_GGGSSGEDDPLGKEDLPSEEDSPRE
21:10970014-10970014 T>A	0.0	1913	MELANOMA	-	-	-	-	TPTE	ENST00000361285,p.K38N|NM_199261,p.K38N|uc002yip.1,p.K38N	protein_coding, processed_transcript	uc002yip.1	nonsynonymous SNV	exon6	c.A114T	p.K38N	SEFKGATEEAPAKESPHTSEFKGAA	SEFKGATEEAPANESPHTSEFKGAA	1.0	2.0	unscreened	-	1913_21:10970014-10970014 T>A_SEFKGATEEAPANESPHTSEFKGAA
3:185195175-185195175 G>A	0.0	1913	MELANOMA	-	-	-	1	MAP3K13	NM_001242317,p.R624Q|ENST00000424227,p.R831Q|uc011brt.2,p.R624Q|uc003fpi.3,p.R831Q|ENST00000443863,p.R687Q|NM_004721,p.R831Q|uc010hyg.3,p.R521Q|uc010hyf.3,p.R831Q|NM_001242314,p.R831Q|ENST00000535426,p.R687Q|ENST00000265026,p.R831Q|uc011bru.2,p.R687Q|ENST00000446828,p.R624Q	retained_intron, protein_coding, nonsense_mediated_decay	uc011bru.2	nonsynonymous SNV	exon12	c.G2060A	p.R687Q	EEGEVDSEVEFPRRQRPHRCISSCQ	EEGEVDSEVEFPQRQRPHRCISSCQ	2.0	7.0	unscreened	-	1913_3:185195175-185195175 G>A_EEGEVDSEVEFPQRQRPHRCISSCQ
12:6422872-6422872 G>A	0.0	1913	MELANOMA	-	-	-	-	PLEKHG6	uc001qnr.3,p.M72I|NM_001144856,p.M72I|uc010sex.2,p.M40I|ENST00000536531,p.M72I|ENST00000396988,p.M72I|uc010sew.2,p.M72I|NM_018173,p.M72I|NM_001144857,p.M40I|ENST00000449001,p.M40I|ENST00000011684,p.M72I|uc001qns.3,p.M72I	protein_coding, processed_transcript	uc010sex.2	nonsynonymous SNV	exon2	c.G120A	p.M40I	ARGSGQARGLSPMRLRDPEPEKRHG	ARGSGQARGLSPIRLRDPEPEKRHG	3.0	1.0	unscreened	-	1913_12:6422872-6422872 G>A_ARGSGQARGLSPIRLRDPEPEKRHG
X:83128077-83128077 G>A	0.0	1913	MELANOMA	-	-	-	-	CYLC1	ENST00000329312,p.E121K|NM_021118,p.E121K|uc004eei.2,p.E121K|uc004eeh.2,p.E120K	protein_coding	uc004eei.2	nonsynonymous SNV	exon4	c.G361A	p.E121K	HLKKAEYKKSKDEKGGTPLKKDSKK	HLKKAEYKKSKDKKGGTPLKKDSKK	1.0	9.0	unscreened	-	1913_X:83128077-83128077 G>A_HLKKAEYKKSKDKKGGTPLKKDSKK
1:92447228-92447230 AGC>-	0.0	1913	MELANOMA	-	-	-	-	BRDT	ENST00000399546,p.640_640del|NM_001242808,p.594_594del|ENST00000394530,p.594_594del|NM_001242810,p.567_567del|uc009wdf.3,p.567_567del|NM_001726,p.640_640del|uc001dok.4,p.640_640del|uc010osz.2,p.644_644del|NM_001242805,p.640_640del|NM_001242807,p.594_594del|uc001dom.4,p.640_640del|NM_207189,p.640_640del|ENST00000402388,p.640_640del|ENST00000362005,p.640_640del|uc001dol.4,p.640_640del|uc010ota.2,p.594_594del|NM_001242806,p.644_644del|ENST00000370389,p.567_567del|uc010otb.2,p.594_594del	protein_coding, processed_transcript	uc010otb.2	nonframeshift deletion	exon11	c.1780_1782del	p.594_594del	SKAVENVSRLSESSSSSSSSSESES	SKAVENVSRLSESSSSSSSSESESS	1.0	1.0	unscreened	-	1913_1:92447228-92447230 AGC>-_SKAVENVSRLSESSSSSSSSESESS
19:54308623-54308623 C>T	0.0	1913	MELANOMA	-	-	-	-	NLRP12	ENST00000351894,p.M775I|ENST00000535162,p.M775I|uc010eqw.4,p.M58I|uc002qcj.5,p.M776I|NM_001277129,p.M775I|uc002qch.5,p.M775I|uc002qci.5,p.M775I|NM_001277126,p.M776I|ENST00000391775,p.M775I|NM_144687,p.M775I|ENST00000391772,p.M776I|ENST00000324134,p.M775I|ENST00000345770,p.M776I|uc010eqx.4,p.M776I|ENST00000354278,p.M775I|ENST00000391773,p.M776I	retained_intron, protein_coding	uc010eqx.4	nonsynonymous SNV	exon5	c.G2328A	p.M776I	SAALIANKNLTRMDLSGNGVGFPGM	SAALIANKNLTRIDLSGNGVGFPGM	1.0	5.0	unscreened	-	1913_19:54308623-54308623 C>T_SAALIANKNLTRIDLSGNGVGFPGM
20:23545590-23545590 G>A	0.0	1913	MELANOMA	-	-	-	-	CST9L	NM_080610,p.H147Y|uc002wtk.4,p.H147Y|ENST00000376979,p.H147Y	protein_coding	uc002wtk.4	nonsynonymous SNV	exon3	c.C439T	p.H147Y	FSLLNKTCLEGFH	FSLLNKTCLEGFY	1.0	4.0	unscreened	-	1913_20:23545590-23545590 G>A_FSLLNKTCLEGFY
15:89453137-89453137 G>A	1.0	1913	MELANOMA	-	-	-	-	MFGE8	uc010bnn.3,p.P23S|ENST00000539437,p.P23S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bnn.3	nonsynonymous SNV	exon3	c.C67T	p.P23S	IPILHTDICSKNPCHNGGLCEEISQ	IPILHTDICSKNSCHNGGLCEEISQ	10.0	8.0	unscreened	-	1913_15:89453137-89453137 G>A_IPILHTDICSKNSCHNGGLCEEISQ
19:43523176-43523176 G>A	0.0	1913	MELANOMA	-	-	-	-	PSG11	uc002ovm.1,p.S152F|ENST00000320078,p.S152F|NM_002785,p.S152F|ENST00000401740,p.S152F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ovm.1	nonsynonymous SNV	exon3	c.C455T	p.S152F	FTLYLETPKPSISSSNLNPREAMET	FTLYLETPKPSIFSSNLNPREAMET	1.0	7.0	unscreened	-	1913_19:43523176-43523176 G>A_FTLYLETPKPSIFSSNLNPREAMET
3:52811633-52811633 T>G	0.0	1913	MELANOMA	-	-	-	-	ITIH1	ENST00000480409,p.M1R|ENST00000273283,p.M1R|ENST00000542827,p.M1R|NM_002215,p.M1R|uc003dfs.3,p.M1R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003dfs.3	nonsynonymous SNV	exon1	c.T2G	p.M1R	MDGAMGPRGLLLC	RDGAMGPRGLLLC	1.0	9.0	unscreened	-	1913_3:52811633-52811633 T>G_RDGAMGPRGLLLC
14:96707584-96707584 G>A	0.0	1913	MELANOMA	-	-	-	-	BDKRB2	uc010twu.1,p.E280K|ENST00000554311,p.E307K|uc001yfg.2,p.E307K|ENST00000542454,p.E280K|ENST00000306005,p.E307K|uc010avm.1,p.E307K|NM_000623,p.E307K|ENST00000539359,p.E280K	protein_coding	uc010twu.1	nonsynonymous SNV	exon4	c.G838A	p.E280K	LHRLGILSSCQDERIIDVITQIASF	LHRLGILSSCQDKRIIDVITQIASF	1.0	8.0	unscreened	-	1913_14:96707584-96707584 G>A_LHRLGILSSCQDKRIIDVITQIASF
5:140481668-140481668 G>A	0.0	1913	MELANOMA	-	-	-	-	PCDHB3	NM_018937,p.D479N|ENST00000231130,p.D479N|uc003lio.3,p.D479N	protein_coding	uc003lio.3	nonsynonymous SNV	exon1	c.G1435A	p.D479N	ALHIGSVSATDRDSGTNAQVTYSLL	ALHIGSVSATDRNSGTNAQVTYSLL	2.0	2.0	unscreened	-	1913_5:140481668-140481668 G>A_ALHIGSVSATDRNSGTNAQVTYSLL
19:43762380-43762380 G>A	0.0	1913	MELANOMA	-	-	-	-	PSG9	NM_001301708,p.S313F|uc002owd.4,p.S406F|NM_002784,p.S406F|ENST00000593948,p.S313F|ENST00000443718,p.S313F|ENST00000291752,p.S220F|uc010xwm.2,p.S313F|uc002owf.4,p.S220F|NM_001301707,p.S313F|uc002owe.4,p.S313F|NM_001301709,p.S220F|ENST00000270077,p.S406F	retained_intron, protein_coding	uc010xwm.2	nonsynonymous SNV	exon4	c.C938T	p.S313F	CSVHNSATGKEISKSMTVKVSGPCH	CSVHNSATGKEIFKSMTVKVSGPCH	1.0	4.0	unscreened	-	1913_19:43762380-43762380 G>A_CSVHNSATGKEIFKSMTVKVSGPCH
3:49693358-49693358 C>A	0.0	1913	MELANOMA	-	-	-	-	BSN	uc003cxe.4,p.D2123E|NM_003458,p.D2123E|ENST00000296452,p.D2123E	retained_intron, protein_coding	uc003cxe.4	nonsynonymous SNV	exon5	c.C6369A	p.D2123E	YGGRHGSGGGGPDLVQYQPQHGPGL	YGGRHGSGGGGPELVQYQPQHGPGL	5.0	8.0	unscreened	-	1913_3:49693358-49693358 C>A_YGGRHGSGGGGPELVQYQPQHGPGL
7:43484986-43484986 G>A	0.0	1913	MELANOMA	-	-	-	-	HECW1	uc011kbi.1,p.E739K|uc003tid.1,p.E739K|ENST00000453890,p.E739K|ENST00000395891,p.E739K|NM_015052,p.E739K|NM_001287059,p.E739K	protein_coding, processed_transcript	uc011kbi.1	nonsynonymous SNV	exon10	c.G2215A	p.E739K	ISESTVFSSQDDEEEENSAFESVPD	ISESTVFSSQDDKEEENSAFESVPD	1.0	5.0	unscreened	-	1913_7:43484986-43484986 G>A_ISESTVFSSQDDKEEENSAFESVPD
2:166201147-166201147 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1691288,COSM1691287;OCCURENCE=1(skin)	-	SCN2A	uc002udd.3,p.G882E|uc002ude.3,p.G882E|ENST00000375427,p.G882E|NM_001040143,p.G882E|NM_021007,p.G882E|ENST00000357398,p.G882E|ENST00000375437,p.G882E|NM_001040142,p.G882E|uc002udc.3,p.G882E|ENST00000283256,p.G882E	retained_intron, protein_coding	uc002ude.3	nonsynonymous SNV	exon15	c.G2645A	p.G882E	LIKIIGNSVGALGNLTLVLAIIVFI	LIKIIGNSVGALENLTLVLAIIVFI	1.0	5.0	unscreened	-	1913_2:166201147-166201147 G>A_LIKIIGNSVGALENLTLVLAIIVFI
15:84442299-84442299 G>A	0.0	1913	MELANOMA	-	-	-	-	ADAMTSL3	ENST00000286744,p.E72K|NM_001301110,p.E72K|NM_207517,p.E72K|uc010bmt.1,p.E72K|ENST00000567476,p.E72K|uc002bjy.1,p.E72K|uc002bjz.4,p.E72K	retained_intron, protein_coding, processed_transcript	uc010bmt.1	nonsynonymous SNV	exon4	c.G214A	p.E72K	YDDQTSRNTRSDEDKDGNWDAWGDW	YDDQTSRNTRSDKDKDGNWDAWGDW	1.0	9.0	unscreened	-	1913_15:84442299-84442299 G>A_YDDQTSRNTRSDKDKDGNWDAWGDW
3:7456827-7456827 A>G	0.0	1913	MELANOMA	-	-	-	-	GRM7	ENST00000486284,p.E384G|ENST00000389336,p.E384G|uc003bql.2,p.E384G|ENST00000389335,p.E384G|NM_181874,p.E384G|uc010hcg.2,p.E384G|ENST00000357716,p.E384G|ENST00000467425,p.E384G|NM_000844,p.E384G|ENST00000402647,p.E384G|ENST00000445087,p.E41G|uc003bqm.2,p.E384G|ENST00000403881,p.E384G|ENST00000440923,p.E384G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hcg.2	nonsynonymous SNV	exon5	c.A1151G	p.E384G	FNCKLTISGSKKEDTDRKCTGQERI	FNCKLTISGSKKGDTDRKCTGQERI	1.0	9.0	unscreened	-	1913_3:7456827-7456827 A>G_FNCKLTISGSKKGDTDRKCTGQERI
8:142367558-142367558 C>T	0.0	1913	MELANOMA	-	-	-	-	GPR20	NM_005293,p.E156K|uc022bby.1,p.E156K|uc003ywf.3,p.E156K|ENST00000377741,p.E156K	protein_coding	uc022bby.1	nonsynonymous SNV	exon1	c.G466A	p.E156K	ICVDRYLAIVRPEGSRRCRQPACAR	ICVDRYLAIVRPKGSRRCRQPACAR	1.0	8.0	unscreened	-	1913_8:142367558-142367558 C>T_ICVDRYLAIVRPKGSRRCRQPACAR
19:43762380-43762380 G>A	0.0	1913	MELANOMA	-	-	-	-	PSG9	uc002owg.2,p.S313F|ENST00000244293,p.S313F|ENST00000596730,p.S220F	retained_intron, protein_coding	uc002owg.2	nonsynonymous SNV	exon4	c.C938T	p.S313F	CSVHNSATGKEISKSMTVKVSGKWI	CSVHNSATGKEIFKSMTVKVSGKWI	1.0	4.0	unscreened	-	1913_19:43762380-43762380 G>A_CSVHNSATGKEIFKSMTVKVSGKWI
22:37330024-37330024 G>A	0.0	1913	MELANOMA	-	-	-	-	CSF2RB	uc003aqa.4,p.D435N|ENST00000536485,p.D382N|ENST00000406230,p.D441N|ENST00000403662,p.D435N|NM_000395,p.D435N|uc003aqc.4,p.D441N|ENST00000262825,p.D441N	protein_coding	uc003aqc.4	nonsynonymous SNV	exon9	c.G1321A	p.D441N	GIWSEWSEARSWDTESVLPMWVLAL	GIWSEWSEARSWNTESVLPMWVLAL	3.0	3.0	unscreened	-	1913_22:37330024-37330024 G>A_GIWSEWSEARSWNTESVLPMWVLAL
16:70908247-70908247 C>T	0.0	1913	MELANOMA	-	-	-	-	HYDIN	ENST00000393567,p.E3637K|NM_001270974,p.E3637K|uc031qwy.1,p.E3637K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon64	c.G10909A	p.E3637K	TSQEDISISEFTEIIEDNDMEDLVA	TSQEDISISEFTKIIEDNDMEDLVA	4.0	3.0	unscreened	-	1913_16:70908247-70908247 C>T_TSQEDISISEFTKIIEDNDMEDLVA
1:103474059-103474059 G>A	0.0	1913	MELANOMA	-	-	-	-	COL11A1	uc001dum.3,p.S560L|ENST00000353414,p.S509L|NM_001854,p.S548L|ENST00000512756,p.S432L|ENST00000358392,p.S560L|uc009weh.3,p.S432L|uc001dul.3,p.S548L|NM_080629,p.S560L|NM_001190709,p.S509L|NM_080630,p.S432L|uc001dun.3,p.S509L|ENST00000370096,p.S548L	retained_intron, protein_coding, processed_transcript	uc009weh.3	nonsynonymous SNV	exon13	c.C1295T	p.S432L	LTGRPGPVGGPGSSGAKGESGDPGP	LTGRPGPVGGPGLSGAKGESGDPGP	1.0	9.0	unscreened	-	1913_1:103474059-103474059 G>A_LTGRPGPVGGPGLSGAKGESGDPGP
15:65622681-65622681 C>T	0.0	1913	MELANOMA	-	-	-	-	IGDCC3	NM_004884,p.G603D|uc002aos.2,p.G603D|ENST00000327987,p.G603D|ENST00000558354,p.G466D|uc031qsl.1,p.G466D	retained_intron, protein_coding, processed_transcript	uc031qsl.1	nonsynonymous SNV	exon10	c.G1397A	p.G466D	EVKLLAYNQHGDGNATVRFVSLRGA	EVKLLAYNQHGDDNATVRFVSLRGA	1.0	2.0	unscreened	-	1913_15:65622681-65622681 C>T_EVKLLAYNQHGDDNATVRFVSLRGA
18:50432645-50432645 G>A	0.0	1913	MELANOMA	-	-	ID=COSM3692226,COSM294296;OCCURENCE=2(large_intestine)	2	DCC	uc010xdr.1,p.R63Q|NM_005215,p.R215Q|ENST00000442544,p.R215Q|ENST00000412726,p.R63Q|uc002lfe.2,p.R215Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xdr.1	nonsynonymous SNV	exon3	c.G188A	p.R63Q	QPGDIGIYRCSARNPASSRTGNEAE	QPGDIGIYRCSAQNPASSRTGNEAE	1.0	9.0	unscreened	-	1913_18:50432645-50432645 G>A_QPGDIGIYRCSAQNPASSRTGNEAE
8:110439287-110439287 G>A	0.0	1913	MELANOMA	-	-	-	-	PKHD1L1	ENST00000378402,p.G968R|uc003yne.3,p.G968R|NM_177531,p.G968R	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon25	c.G2902A	p.G968R	AADLQFALQSLEGMGRISVTREGTC	AADLQFALQSLERMGRISVTREGTC	1.0	4.0	unscreened	-	1913_8:110439287-110439287 G>A_AADLQFALQSLERMGRISVTREGTC
20:44003981-44003981 C>T	1.0	1913	MELANOMA	-	-	-	-	TP53TG5	NM_014477,p.E156K|uc002xny.3,p.E156K|ENST00000537995,p.E140K|ENST00000372726,p.E156K	protein_coding, processed_transcript	uc002xny.3	nonsynonymous SNV	exon4	c.G466A	p.E156K	SLAAMPRKEKHIEPEVPRTSRDDSL	SLAAMPRKEKHIKPEVPRTSRDDSL	1.0	4.0	unscreened	-	1913_20:44003981-44003981 C>T_SLAAMPRKEKHIKPEVPRTSRDDSL
1:152325923-152325923 G>A	0.0	1913	MELANOMA	-	-	-	-	FLG2	NM_001014342,p.H1447Y|uc001ezw.4,p.H1447Y|ENST00000388718,p.H1447Y	protein_coding	uc001ezw.4	nonsynonymous SNV	exon3	c.C4339T	p.H1447Y	GGSHRPQSQEQTHGQAGSQHGESGS	GGSHRPQSQEQTYGQAGSQHGESGS	1.0	2.0	unscreened	-	1913_1:152325923-152325923 G>A_GGSHRPQSQEQTYGQAGSQHGESGS
1:158260932-158260932 G>A	0.0	1913	MELANOMA	-	-	-	-	CD1C	uc001fru.3,p.E24K|ENST00000368170,p.E24K|NM_001765,p.E24K	protein_coding	uc001fru.3	nonsynonymous SNV	exon2	c.G70A	p.E24K	LLPGGDNADASQEHVSFHVIQIFSF	LLPGGDNADASQKHVSFHVIQIFSF	1.0	7.0	unscreened	-	1913_1:158260932-158260932 G>A_LLPGGDNADASQKHVSFHVIQIFSF
14:21469250-21469250 G>A	0.0	1913	MELANOMA	-	-	ID=COSM182744;OCCURENCE=1(large_intestine)	-	SLC39A2	ENST00000298681,p.E148K|NM_014579,p.E148K|uc001vyr.3,p.E148K	retained_intron, protein_coding	uc001vyr.3	nonsynonymous SNV	exon4	c.G442A	p.E148K	VQDEEWGGAHIFELHSHGHLPSPSK	VQDEEWGGAHIFKLHSHGHLPSPSK	1.0	2.0	unscreened	-	1913_14:21469250-21469250 G>A_VQDEEWGGAHIFKLHSHGHLPSPSK
5:140772810-140772810 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1567396;OCCURENCE=1(large_intestine)	-	PCDHGA8	uc003lkd.2,p.E144K|uc003lkb.4,p.E144K|NM_032088,p.E144K|ENST00000398604,p.E144K|NM_014004,p.E144K	protein_coding	uc003lkd.2	nonsynonymous SNV	exon1	c.G430A	p.E144K	KFQVEDLEVKINEIAVPGARYPLPE	KFQVEDLEVKINKIAVPGARYPLPE	1.0	3.0	unscreened	-	1913_5:140772810-140772810 G>A_KFQVEDLEVKINKIAVPGARYPLPE
19:43762380-43762380 G>A	0.0	1913	MELANOMA	-	-	-	-	PSG9	ENST00000418820,p.S313F	retained_intron, protein_coding	ENST00000418820	nonsynonymous SNV	exon4	c.C938T	p.S313F	CSVHNSATGKEISKSMTVKVSDWIL	CSVHNSATGKEIFKSMTVKVSDWIL	1.0	4.0	unscreened	-	1913_19:43762380-43762380 G>A_CSVHNSATGKEIFKSMTVKVSDWIL
1:23234647-23234647 T>A	0.0	1913	MELANOMA	-	-	-	-	EPHB2	ENST00000374632,p.Y781N|NM_004442,p.Y781N|uc001bgf.3,p.Y780N|NM_017449,p.Y780N|uc001bge.3,p.Y781N|ENST00000374630,p.Y780N|uc009vqj.1,p.Y780N|uc010odu.2,p.Y722N|ENST00000374627,p.Y775N|ENST00000400191,p.Y780N	protein_coding, processed_transcript	uc010odu.2	nonsynonymous SNV	exon11	c.T2164A	p.Y722N	SRFLEDDTSDPTYTSALGGKIPIRW	SRFLEDDTSDPTNTSALGGKIPIRW	1.0	8.0	unscreened	-	1913_1:23234647-23234647 T>A_SRFLEDDTSDPTNTSALGGKIPIRW
9:77367256-77367256 C>T	0.0	1913	MELANOMA	-	-	-	-	TRPM6	NM_001177310,p.M1640I|ENST00000451710,p.M1645I|ENST00000376864,p.M1645I|uc022bib.1,p.M1640I|NM_017662,p.M1645I|uc004ajk.1,p.M1640I|ENST00000361255,p.M1640I|ENST00000376872,p.M596I|NM_001177311,p.M1640I|ENST00000449912,p.M1640I|uc004ajj.1,p.M601I|uc010mpc.1,p.M596I|uc004ajl.1,p.M1645I|ENST00000360774,p.M1645I	protein_coding, processed_transcript	uc022bib.1	nonsynonymous SNV	exon29	c.G4920A	p.M1640I	SHTGVEPYIHQKMKTKEIGQCAIQI	SHTGVEPYIHQKIKTKEIGQCAIQI	1.0	4.0	unscreened	-	1913_9:77367256-77367256 C>T_SHTGVEPYIHQKIKTKEIGQCAIQI
1:152325097-152325097 C>T	0.0	1913	MELANOMA	-	-	-	-	FLG2	uc001ezw.4,p.G1722E|NM_001014342,p.G1722E|ENST00000388718,p.G1722E	protein_coding	uc001ezw.4	nonsynonymous SNV	exon3	c.G5165A	p.G1722E	HGLTTQTGSRTTGRRGSGHSEYSDS	HGLTTQTGSRTTERRGSGHSEYSDS	1.0	8.0	unscreened	-	1913_1:152325097-152325097 C>T_HGLTTQTGSRTTERRGSGHSEYSDS
8:55542788-55542788 A>G	0.0	1913	MELANOMA	-	-	-	-	RP1	NM_006269,p.N2116D|ENST00000220676,p.N2116D|uc003xsd.1,p.N2116D	protein_coding	uc003xsd.1	nonsynonymous SNV	exon4	c.A6346G	p.N2116D	CLLDICQVETSLNISNRNILELCMF	CLLDICQVETSLDISNRNILELCMF	1.0	7.0	unscreened	-	1913_8:55542788-55542788 A>G_CLLDICQVETSLDISNRNILELCMF
5:55396074-55396074 C>T	0.0	1913	MELANOMA	0.01	-	-	-	ANKRD55	ENST00000341048,p.R594Q|ENST00000434982,p.R306Q|NM_024669,p.R594Q|uc003jqu.3,p.R594Q|ENST00000504958,p.R551Q|uc003jqt.3,p.R306Q	protein_coding, processed_transcript	uc003jqu.3	nonsynonymous SNV	exon12	c.G1781A	p.R594Q	RTNRVLPAIPSQRRHSTAAEESEHS	RTNRVLPAIPSQQRHSTAAEESEHS	1.0	3.0	unscreened	-	1913_5:55396074-55396074 C>T_RTNRVLPAIPSQQRHSTAAEESEHS
19:58967581-58967581 C>T	0.0	1913	MELANOMA	-	-	-	-	ZNF324B	ENST00000336614,p.P424S|ENST00000391696,p.P414S|NM_207395,p.P424S|uc010euq.1,p.P424S|uc002qsv.1,p.P424S|ENST00000545523,p.P424S|uc002qsu.1,p.P414S	protein_coding	uc010euq.1	nonsynonymous SNV	exon5	c.C1270T	p.P424S	LFLHQRVHTGEKPFACAQCGRSFSR	LFLHQRVHTGEKSFACAQCGRSFSR	4.0	4.0	unscreened	-	1913_19:58967581-58967581 C>T_LFLHQRVHTGEKSFACAQCGRSFSR
19:16589983-16589983 C>T	0.0	1913	MELANOMA	-	-	-	-	CALR3	ENST00000269881,p.E372K|NM_145046,p.E372K|uc002ned.3,p.E372K	protein_coding, processed_transcript	uc002ned.3	nonsynonymous SNV	exon9	c.G1114A	p.E372K	EEELLSGKINRHEHYFNQFHRRNEL	EEELLSGKINRHKHYFNQFHRRNEL	1.0	8.0	unscreened	-	1913_19:16589983-16589983 C>T_EEELLSGKINRHKHYFNQFHRRNEL
20:9561257-9561257 C>T	0.0	1913	MELANOMA	-	-	-	-	PAK7	uc002wnl.2,p.M175I|ENST00000378423,p.M175I|NM_020341,p.M175I|uc002wnk.2,p.M175I|ENST00000378429,p.M175I|uc010gby.1,p.M175I|uc002wnj.2,p.M175I|ENST00000353224,p.M175I|NM_177990,p.M175I	protein_coding	uc010gby.1	nonsynonymous SNV	exon4	c.G525A	p.M175I	SHAAKQNGHVMKMKHGEAYYSEVKP	SHAAKQNGHVMKIKHGEAYYSEVKP	1.0	6.0	unscreened	-	1913_20:9561257-9561257 C>T_SHAAKQNGHVMKIKHGEAYYSEVKP
19:43529134-43529134 C>T	0.0	1913	MELANOMA	-	-	-	-	PSG11	ENST00000401740,p.E47K|uc002ovm.1,p.E47K|ENST00000598133,p.E47K|ENST00000320078,p.E47K|NM_002785,p.E47K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ovm.1	nonsynonymous SNV	exon2	c.G139A	p.E47K	QVMIEAQPPKVSEGKDVLLLVHNLP	QVMIEAQPPKVSKGKDVLLLVHNLP	1.0	3.0	unscreened	-	1913_19:43529134-43529134 C>T_QVMIEAQPPKVSKGKDVLLLVHNLP
5:35727789-35727789 G>A	0.0	1913	MELANOMA	-	-	-	-	SPEF2	uc003jjo.3,p.G976E|ENST00000440995,p.G971E|uc003jjp.1,p.G462E|ENST00000356031,p.G976E|NM_024867,p.G976E	retained_intron, protein_coding, nonsense_mediated_decay	uc003jjp.1	nonsynonymous SNV	exon11	c.G1385A	p.G462E	GETALKRKGSPKGKSSGGKVPVKKS	GETALKRKGSPKEKSSGGKVPVKKS	2.0	1.0	unscreened	-	1913_5:35727789-35727789 G>A_GETALKRKGSPKEKSSGGKVPVKKS
2:152529128-152529128 C>T	0.0	1913	MELANOMA	-	-	-	-	NEB	NM_004543,p.D1352N|NM_001164508,p.D1352N|ENST00000172853,p.D1352N|uc021vrd.1,p.D1352N|uc021vrb.1,p.D1352N|uc010fnx.3,p.D1352N|ENST00000603639,p.D1352N|uc002txu.3,p.D1352N|NM_001164507,p.D1352N|ENST00000427231,p.D1352N|ENST00000397345,p.D1352N|ENST00000604864,p.D1352N|ENST00000409198,p.D1352N|uc021vrc.1,p.D1352N|uc031rpp.1,p.D1352N|NM_001271208,p.D1352N	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon37	c.G4054A	p.D1352N	KGKHVGFRSLQDDPKLVHYMNVAKL	KGKHVGFRSLQDNPKLVHYMNVAKL	5.0	4.0	unscreened	-	1913_2:152529128-152529128 C>T_KGKHVGFRSLQDNPKLVHYMNVAKL
3:46400093-46400093 G>A	0.0	1913	MELANOMA	-	-	-	-	CCR2	ENST00000445132,p.G359S|NM_001123396,p.G359S|uc003cpm.4,p.G359S|uc021wxa.1,p.G359S	protein_coding, processed_transcript	uc021wxa.1	nonsynonymous SNV	exon1	c.G1075A	p.G359S	NTPSTGEQEVSAGL	NTPSTGEQEVSASL	3.0	9.0	unscreened	-	1913_3:46400093-46400093 G>A_NTPSTGEQEVSASL
7:150325516-150325516 C>T	0.0	1913	MELANOMA	-	-	-	-	GIMAP6	NM_024711,p.G57E|uc031szs.1,p.G79E|uc003whn.3,p.G57E|ENST00000328902,p.G57E|NM_001244072,p.G127E|uc022apv.1,p.G127E	protein_coding	uc031szs.1	nonsynonymous SNV	exon2	c.G236A	p.G79E	LMGKTGSGKSATGNSILGRDVFESK	LMGKTGSGKSATENSILGRDVFESK	2.0	5.0	unscreened	-	1913_7:150325516-150325516 C>T_LMGKTGSGKSATENSILGRDVFESK
2:179553407-179553407 C>T	0.0	1913	MELANOMA	-	-	-	-	TTN	uc031rqd.1,p.E10415K|NM_001267550,p.E10732K|NM_001256850,p.E10415K|uc031rqc.1,p.E10732K|uc021vsy.2,p.E9488K|NM_133378,p.E9488K|ENST00000342992,p.E9488K|uc002umz.1,p.E6149K|ENST00000591111,p.E10415K|ENST00000589042,p.E10732K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon124	c.G31243A	p.E10415K	FAVPQRVEVTRHEVSAEEEWSYSEE	FAVPQRVEVTRHKVSAEEEWSYSEE	2.0	6.0	unscreened	-	1913_2:179553407-179553407 C>T_FAVPQRVEVTRHKVSAEEEWSYSEE
7:137263038-137263038 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1085958,COSM3431279,COSM1448331;OCCURENCE=1(endometrium),3(large_intestine)	-	DGKI	ENST00000288490,p.R559Q|uc003vtu.3,p.R259Q|ENST00000424189,p.R559Q|NM_004717,p.R559Q|uc003vtt.3,p.R559Q|ENST00000453654,p.R259Q|ENST00000446122,p.R559Q	retained_intron, protein_coding, processed_transcript	uc003vtu.3	nonsynonymous SNV	exon16	c.G776A	p.R259Q	REANPEKFNSRFRNKMFYAGAAFSD	REANPEKFNSRFQNKMFYAGAAFSD	5.0	5.0	unscreened	-	1913_7:137263038-137263038 C>T_REANPEKFNSRFQNKMFYAGAAFSD
6:144508147-144508147 C>T	0.0	1913	MELANOMA	-	-	-	-	STX11	uc021zgk.1,p.S128L|NM_003764,p.S128L|ENST00000367568,p.S128L|uc003qks.4,p.S128L	protein_coding	uc021zgk.1	nonsynonymous SNV	exon1	c.C383T	p.S128L	AQHGPHSAVARISRAQYNALTLTFQ	AQHGPHSAVARILRAQYNALTLTFQ	1.0	2.0	unscreened	-	1913_6:144508147-144508147 C>T_AQHGPHSAVARILRAQYNALTLTFQ
2:179585319-179585319 C>T	0.0	1913	MELANOMA	-	-	ID=COSM304861;OCCURENCE=1(large_intestine)	-	TTN	NM_133378,p.E6480K|NM_001267550,p.E7724K|uc031rqc.1,p.E7724K|ENST00000342992,p.E6480K|ENST00000589042,p.E7724K|ENST00000591111,p.E7407K|uc021vsy.2,p.E6480K|NM_001256850,p.E7407K|uc031rqd.1,p.E7407K|uc002umz.1,p.E3141K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon78	c.G22219A	p.E7407K	GALKGSDVILQCEISGTPPFEVVWV	GALKGSDVILQCKISGTPPFEVVWV	2.0	5.0	unscreened	-	1913_2:179585319-179585319 C>T_GALKGSDVILQCKISGTPPFEVVWV
8:3165304-3165304 C>T	0.0	1913	MELANOMA	-	-	-	-	CSMD1	uc022aqr.1,p.R1288Q|ENST00000400186,p.R1289Q|ENST00000542608,p.R1288Q|ENST00000602723,p.R1289Q|ENST00000539096,p.R1288Q|ENST00000602557,p.R1289Q|uc003wqe.3,p.R445Q|uc011kwj.2,p.R681Q|NM_033225,p.R1288Q|ENST00000537824,p.R1288Q|ENST00000520002,p.R1289Q	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon25	c.G3863A	p.R1288Q	ECGGQIHAATSGRILSPGYPAPYDN	ECGGQIHAATSGQILSPGYPAPYDN	1.0	6.0	unscreened	-	1913_8:3165304-3165304 C>T_ECGGQIHAATSGQILSPGYPAPYDN
6:36298095-36298095 C>T	0.0	1913	MELANOMA	-	-	-	-	C6orf222	ENST00000437635,p.G125R|uc003oly.3,p.G125R|NM_001010903,p.G125R	protein_coding	uc003oly.3	nonsynonymous SNV	exon2	c.G373A	p.G125R	EEPREKASRRPRGKEGISQHPEPLE	EEPREKASRRPRRKEGISQHPEPLE	1.0	2.0	unscreened	-	1913_6:36298095-36298095 C>T_EEPREKASRRPRRKEGISQHPEPLE
X:5950741-5950741 C>T	0.0	1913	MELANOMA	-	-	-	-	NLGN4X	uc004crp.3,p.E175K|ENST00000381093,p.E175K	protein_coding, processed_transcript	uc004crp.3	nonsynonymous SNV	exon2	c.G523A	p.E175K	KNADDITSNDRGEDEDIHDQNSKKP	KNADDITSNDRGKDEDIHDQNSKKP	1.0	9.0	unscreened	-	1913_X:5950741-5950741 C>T_KNADDITSNDRGKDEDIHDQNSKKP
2:189872314-189872314 C>T	1.0	1913	MELANOMA	-	-	-	2	COL3A1	NM_000090,p.P1115L|uc002uqj.1,p.P1115L|ENST00000304636,p.P1115L	retained_intron, protein_coding	uc002uqj.1	nonsynonymous SNV	exon45	c.C3344T	p.P1115L	AGIKGHRGFPGNPGAPGSPGPAGQQ	AGIKGHRGFPGNLGAPGSPGPAGQQ	4.0	5.0	unscreened	-	1913_2:189872314-189872314 C>T_AGIKGHRGFPGNLGAPGSPGPAGQQ
6:116784563-116784563 G>A	0.0	1913	MELANOMA	-	-	-	-	FAM26F	uc003pwv.4,p.E215K|NM_001010919,p.E215K|uc031spk.1,p.E43K|NM_001276460,p.E43K|ENST00000368606,p.E43K|ENST00000368604,p.E58K|ENST00000368605,p.E215K	protein_coding	uc031spk.1	nonsynonymous SNV	exon2	c.G127A	p.E43K	SFLQLKFWKIYLEQEQQILKSKATE	SFLQLKFWKIYLKQEQQILKSKATE	3.0	3.0	unscreened	-	1913_6:116784563-116784563 G>A_SFLQLKFWKIYLKQEQQILKSKATE
10:17089557-17089557 G>A	0.0	1913	MELANOMA	-	-	-	-	CUBN	NM_001081,p.P1062L|uc001ioo.3,p.P1062L|ENST00000377833,p.P1062L	protein_coding	uc001ioo.3	nonsynonymous SNV	exon23	c.C3185T	p.P1062L	QDYTDDLGTFTSPNFPNNYPNNWEC	QDYTDDLGTFTSLNFPNNYPNNWEC	4.0	6.0	unscreened	-	1913_10:17089557-17089557 G>A_QDYTDDLGTFTSLNFPNNYPNNWEC
19:36590391-36590391 G>A	1.0	1913	MELANOMA	-	-	-	-	WDR62	ENST00000401500,p.E871K|NM_173636,p.E871K|NM_001083961,p.E871K|uc002odc.2,p.E871K|uc002odd.2,p.E871K|ENST00000270301,p.E871K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002odd.2	nonsynonymous SNV	exon22	c.G2611A	p.E871K	QPHGRWAERAGQEPLKTILDAQDLD	QPHGRWAERAGQKPLKTILDAQDLD	7.0	5.0	unscreened	-	1913_19:36590391-36590391 G>A_QPHGRWAERAGQKPLKTILDAQDLD
7:150325304-150325304 G>A	0.0	1913	MELANOMA	-	-	-	-	GIMAP6	uc003whm.3,p.P53L|ENST00000493969,p.P53L|NM_001244071,p.P53L	protein_coding	uc003whm.3	nonsynonymous SNV	exon3	c.C158T	p.P53L	HRLIRPRAPRRAPGDTTGPVHG	HRLIRPRAPRRALGDTTGPVHG	2.0	6.0	unscreened	-	1913_7:150325304-150325304 G>A_HRLIRPRAPRRALGDTTGPVHG
3:189604240-189604240 G>A	0.0	1913	MELANOMA	-	-	-	1	TP63	uc003fry.2,p.M469I|ENST00000264731,p.M469I|ENST00000392461,p.M375I|ENST00000440651,p.M465I|NM_001114981,p.M375I|ENST00000449992,p.M290I|uc021xir.1,p.M375I|ENST00000320472,p.M469I|uc010hzd.1,p.M290I|ENST00000392460,p.M469I|uc003fsc.2,p.M375I|ENST00000382063,p.M384I|ENST00000354600,p.M375I|NM_001114978,p.M469I|uc010hzc.1,p.M469I|NM_001114980,p.M375I|NM_003722,p.M469I|uc003fsd.2,p.M375I|uc003frz.2,p.M469I|ENST00000456148,p.M371I|ENST00000392463,p.M375I	retained_intron, protein_coding	uc021xir.1	nonsynonymous SNV	exon9	c.G1125A	p.M375I	SSYGNSSPPLNKMNSMNKLPSVSQL	SSYGNSSPPLNKINSMNKLPSVSQL	1.0	8.0	unscreened	-	1913_3:189604240-189604240 G>A_SSYGNSSPPLNKINSMNKLPSVSQL
1:12835013-12835013 G>A	0.0	1913	MELANOMA	-	-	-	-	PRAMEF12	ENST00000357726,p.M1I|uc001aui.3,p.M1I|NM_001080830,p.M1I	protein_coding	uc001aui.3	nonsynonymous SNV	exon1	c.G3A	p.M1I	MSLQAPPRLLELA	ISLQAPPRLLELA	1.0	2.0	unscreened	-	1913_1:12835013-12835013 G>A_ISLQAPPRLLELA
7:18066900-18066900 G>A	0.0	1913	MELANOMA	-	-	-	-	PRPS1L1	ENST00000506618,p.S169L|uc003stz.3,p.S169L|NM_175886,p.S169L	protein_coding	uc003stz.3	nonsynonymous SNV	exon1	c.C506T	p.S169L	ENIPEWKNCIIVSPDAGGAKRVTSI	ENIPEWKNCIIVLPDAGGAKRVTSI	1.0	4.0	unscreened	-	1913_7:18066900-18066900 G>A_ENIPEWKNCIIVLPDAGGAKRVTSI
12:7548813-7548813 C>T	0.0	1913	MELANOMA	-	-	ID=COSM139943;OCCURENCE=1(skin)	-	CD163L1	NM_174941,p.G643E|ENST00000313599,p.G643E|uc010sge.2,p.G653E|ENST00000396630,p.G643E|NM_001297650,p.G653E|ENST00000416109,p.G653E|uc001qsy.3,p.G643E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sge.2	nonsynonymous SNV	exon8	c.G1958A	p.G653E	IGMGLGNASTGYGKIWLDDVSCDGD	IGMGLGNASTGYEKIWLDDVSCDGD	1.0	8.0	unscreened	-	1913_12:7548813-7548813 C>T_IGMGLGNASTGYEKIWLDDVSCDGD
1:152280142-152280142 C>T	0.0	1913	MELANOMA	-	-	-	-	FLG	uc001ezu.1,p.R2407K|NM_002016,p.R2407K|ENST00000368799,p.R2407K	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.G7220A	p.R2407K	SHQESTRGRSAGRSGRSGSFLYQVS	SHQESTRGRSAGKSGRSGSFLYQVS	3.0	3.0	unscreened	-	1913_1:152280142-152280142 C>T_SHQESTRGRSAGKSGRSGSFLYQVS
12:130015712-130015712 C>T	0.0	1913	MELANOMA	-	-	-	-	TMEM132D	uc009zyl.1,p.R336Q|ENST00000422113,p.R336Q|NM_133448,p.R336Q	protein_coding	uc009zyl.1	nonsynonymous SNV	exon3	c.G1007A	p.R336Q	AKVKKGVNIIGVRASSPSIWDVKER	AKVKKGVNIIGVQASSPSIWDVKER	1.0	4.0	unscreened	-	1913_12:130015712-130015712 C>T_AKVKKGVNIIGVQASSPSIWDVKER
19:7795318-7795318 C>T	0.0	1913	MELANOMA	-	-	-	-	CLEC4G	NM_198492,p.G133S|NM_001244856,p.G121S|uc021uny.1,p.G121S|uc002mhp.4,p.G133S|ENST00000328853,p.G133S	protein_coding, processed_transcript	uc021uny.1	nonsynonymous SNV	exon6	c.G361A	p.G121S	SALRELRERVTQGLAEAGRGREDVR	SALRELRERVTQSLAEAGRGREDVR	1.0	2.0	unscreened	-	1913_19:7795318-7795318 C>T_SALRELRERVTQSLAEAGRGREDVR
2:179596949-179596949 C>T	0.0	1913	MELANOMA	-	-	-	-	TTN	NM_133378,p.E4339K|NM_001256850,p.E5266K|uc031rqd.1,p.E5266K|ENST00000589042,p.E5583K|ENST00000591111,p.E5266K|uc031rqc.1,p.E5583K|ENST00000342992,p.E4339K|uc021vsy.2,p.E4339K|uc002umz.1,p.E1000K|NM_001267550,p.E5583K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon55	c.G15796A	p.E5266K	PPIKITWFANDREIKESSKHRMSFV	PPIKITWFANDRKIKESSKHRMSFV	2.0	6.0	unscreened	-	1913_2:179596949-179596949 C>T_PPIKITWFANDRKIKESSKHRMSFV
17:34191814-34191814 C>T	0.0	1913	MELANOMA	-	-	-	-	HEATR9	ENST00000311880,p.R134Q|uc010wcm.1,p.R100Q|ENST00000589015,p.R100Q|NM_152781,p.R134Q|ENST00000585840,p.R134Q|uc002hke.1,p.R134Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wcm.1	nonsynonymous SNV	exon5	c.G299A	p.R100Q	LPMSKLTIKSEMRSRPLEPTQDPLK	LPMSKLTIKSEMQSRPLEPTQDPLK	1.0	9.0	unscreened	-	1913_17:34191814-34191814 C>T_LPMSKLTIKSEMQSRPLEPTQDPLK
10:62631295-62631295 T>C	1.0	1913	MELANOMA	-	-	-	-	RHOBTB1	NM_001242359,p.K679R|uc001jlh.3,p.K679R|uc001jli.3,p.K679R|ENST00000357917,p.K679R|ENST00000337910,p.K679R|uc009xpe.2,p.K617R|uc001jlj.3,p.K679R|uc001jlk.3,p.K679R|NM_014836,p.K679R	protein_coding, processed_transcript	uc009xpe.2	nonsynonymous SNV	exon9	c.A1850G	p.K617R	KREREKEDIALNKHRSRRKWCFWNS	KREREKEDIALNRHRSRRKWCFWNS	5.0	7.0	unscreened	-	1913_10:62631295-62631295 T>C_KREREKEDIALNRHRSRRKWCFWNS
20:40713476-40713476 C>T	0.0	1913	MELANOMA	-	-	-	1	PTPRT	uc002xkg.3,p.G1328S|ENST00000373198,p.G1350S|ENST00000373184,p.G1338S|uc010ggj.3,p.G1347S|NM_133170,p.G1347S|uc010ggi.3,p.G531S|ENST00000373201,p.G1318S|NM_007050,p.G1328S|ENST00000356100,p.G1337S|ENST00000373193,p.G1331S|ENST00000373187,p.G1328S|ENST00000373190,p.G1327S	protein_coding, processed_transcript	uc010ggj.3	nonsynonymous SNV	exon30	c.G4039A	p.G1347S	IFRICNMARPQDGYRIVQHLQYIGW	IFRICNMARPQDSYRIVQHLQYIGW	1.0	7.0	unscreened	-	1913_20:40713476-40713476 C>T_IFRICNMARPQDSYRIVQHLQYIGW
12:4662154-4662154 G>A	1.0	1913	MELANOMA	-	-	-	-	RAD51AP1	uc001qmw.3,p.D205N|NM_001130862,p.D205N|ENST00000352618,p.D188N|ENST00000543041,p.D70N|ENST00000321524,p.D205N|ENST00000544927,p.D188N|uc010sep.2,p.D70N|ENST00000228843,p.D205N|NM_006479,p.D188N|uc001qmu.3,p.D188N|uc010seq.2,p.D70N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010seq.2	nonsynonymous SNV	exon6	c.G208A	p.D70N	ANDTEPDFAPGEDSEDDSDFCESED	ANDTEPDFAPGENSEDDSDFCESED	8.0	8.0	unscreened	-	1913_12:4662154-4662154 G>A_ANDTEPDFAPGENSEDDSDFCESED
12:124288251-124288251 A>T	0.0	1913	MELANOMA	-	-	-	-	DNAH10	NM_207437,p.K768N|uc010tav.1,p.K310N|ENST00000409039,p.K768N|uc001uft.4,p.K768N|uc010taw.1,p.K253N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010taw.1	nonsynonymous SNV	exon6	c.A759T	p.K253N	GDYITGCKQAIGKFESLVHQIHKNA	GDYITGCKQAIGNFESLVHQIHKNA	4.0	7.0	unscreened	-	1913_12:124288251-124288251 A>T_GDYITGCKQAIGNFESLVHQIHKNA
5:177690259-177690259 G>A	0.0	1913	MELANOMA	-	-	-	-	COL23A1	ENST00000390654,p.P197S|uc021yiz.1,p.P197S|NM_173465,p.P197S|ENST00000407622,p.P161S	protein_coding, processed_transcript	uc021yiz.1	nonsynonymous SNV	exon9	c.C589T	p.P197S	PPGPPGPPGARGPPGDTGKDGPRGA	PPGPPGPPGARGSPGDTGKDGPRGA	1.0	9.0	unscreened	-	1913_5:177690259-177690259 G>A_PPGPPGPPGARGSPGDTGKDGPRGA
18:31538297-31538297 C>T	0.0	1913	MELANOMA	-	-	-	-	NOL4	NM_001198549,p.G96E|uc010xbv.1,p.G130E|NM_001282527,p.G226E|ENST00000535384,p.G96E|ENST00000590712,p.G365E|uc010xbt.2,p.G307E|NM_001198546,p.G381E|uc002kxt.4,p.G381E|ENST00000269185,p.G267E|ENST00000535475,p.G226E|ENST00000261592,p.G381E|uc010dmi.3,p.G381E|NM_003787,p.G381E|ENST00000538587,p.G307E|NM_001198548,p.G381E|uc010xbu.2,p.G381E|ENST00000586553,p.G130E|uc002kxr.4,p.G217E|uc010xbs.2,p.G96E|NM_001198547,p.G307E|uc010dmh.3,p.G307E|ENST00000589544,p.G381E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010xbv.1	nonsynonymous SNV	exon3	c.G389A	p.G130E	VDRGAEDLSLNRGDEDEDDHEDHDD	VDRGAEDLSLNREDEDEDDHEDHDD	1.0	9.0	unscreened	-	1913_18:31538297-31538297 C>T_VDRGAEDLSLNREDEDEDDHEDHDD
1:40777372-40777372 C>T	1.0	1913	MELANOMA	-	-	ID=COSM681397;OCCURENCE=1(lung)	-	COL9A2	ENST00000372748,p.D145N|NM_001852,p.D145N|uc001cfh.1,p.D145N	retained_intron, protein_coding, processed_transcript	uc001cfh.1	nonsynonymous SNV	exon9	c.G433A	p.D145N	IGIRGPKGDPGPDGPSGPPGPPGKP	IGIRGPKGDPGPNGPSGPPGPPGKP	9.0	2.0	unscreened	-	1913_1:40777372-40777372 C>T_IGIRGPKGDPGPNGPSGPPGPPGKP
19:9090247-9090247 C>T	0.0	1913	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.S523N|uc002mkp.3,p.S523N|NM_024690,p.S523N	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.G1568A	p.S523N	SSTSKASSWTSESTAQQFSEPQHTQ	SSTSKASSWTSENTAQQFSEPQHTQ	1.0	2.0	unscreened	-	1913_19:9090247-9090247 C>T_SSTSKASSWTSENTAQQFSEPQHTQ
3:38674739-38674739 G>A	0.0	1913	MELANOMA	-	-	-	-	SCN5A	uc021wvx.1,p.P23L	retained_intron, protein_coding, processed_transcript	uc021wvx.1	nonsynonymous SNV	exon2	c.C68T	p.P23L	GAPAASAGSHGSPWQPSRSAWQRSK	GAPAASAGSHGSLWQPSRSAWQRSK	1.0	2.0	unscreened	-	1913_3:38674739-38674739 G>A_GAPAASAGSHGSLWQPSRSAWQRSK
2:207171615-207171615 C>T	0.0	1913	MELANOMA	-	-	-	-	ZDBF2	uc002vbp.2,p.S788F|uc031rqy.1,p.S786F|NM_020923,p.S788F|ENST00000374423,p.S788F|NM_001285549,p.S786F	protein_coding	uc031rqy.1	nonsynonymous SNV	exon7	c.C2357T	p.S786F	IDLEDESCESDSSEITFDSDIPLYS	IDLEDESCESDSFEITFDSDIPLYS	1.0	5.0	unscreened	-	1913_2:207171615-207171615 C>T_IDLEDESCESDSFEITFDSDIPLYS
11:66807316-66807316 C>G	0.0	1913	MELANOMA	-	-	-	-	SYT12	ENST00000525457,p.T88R|uc009yrl.3,p.T88R|NM_177963,p.T88R|ENST00000393946,p.T88R|ENST00000527043,p.T88R|uc001oju.3,p.T88R|NM_001177880,p.T88R	retained_intron, protein_coding, processed_transcript	uc009yrl.3	nonsynonymous SNV	exon4	c.C263G	p.T88R	KRVPAWNAQRASTRGPPSRKGSLSI	KRVPAWNAQRASRRGPPSRKGSLSI	1.0	8.0	unscreened	-	1913_11:66807316-66807316 C>G_KRVPAWNAQRASRRGPPSRKGSLSI
16:70928407-70928407 C>T	0.0	1913	MELANOMA	-	-	-	-	HYDIN	uc031qwy.1,p.E3065K|NM_001270974,p.E3065K|ENST00000393567,p.E3065K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon55	c.G9193A	p.E3065K	GGLDFGIVRVTEEAKQPLQLKNRGK	GGLDFGIVRVTEKAKQPLQLKNRGK	4.0	3.0	unscreened	-	1913_16:70928407-70928407 C>T_GGLDFGIVRVTEKAKQPLQLKNRGK
20:57829535-57829535 C>T	0.0	1913	MELANOMA	-	-	-	-	ZNF831	uc002yan.3,p.P1591S|NM_178457,p.P1591S|ENST00000371030,p.P1591S	protein_coding	uc002yan.3	nonsynonymous SNV	exon5	c.C4771T	p.P1591S	SHHKEGRHKTFFPSRGQYGCGEMTV	SHHKEGRHKTFFSSRGQYGCGEMTV	1.0	6.0	unscreened	-	1913_20:57829535-57829535 C>T_SHHKEGRHKTFFSSRGQYGCGEMTV
17:12647507-12647507 C>T	0.0	1913	MELANOMA	-	-	-	-	MYOCD	ENST00000343344,p.S242F|ENST00000425538,p.S242F|NM_153604,p.S242F|NM_001146312,p.S242F|ENST00000395988,p.S146F|uc002gnp.1,p.S146F|uc002gnn.2,p.S242F|uc002gno.2,p.S242F	protein_coding, nonsense_mediated_decay	uc002gnp.1	nonsynonymous SNV	exon5	c.C437T	p.S146F	TPIAVHAAVKSKSLGDSKNRHKKPK	TPIAVHAAVKSKFLGDSKNRHKKPK	1.0	4.0	unscreened	-	1913_17:12647507-12647507 C>T_TPIAVHAAVKSKFLGDSKNRHKKPK
8:105393502-105393502 C>T	0.0	1913	MELANOMA	-	-	-	-	DPYS	ENST00000351513,p.G495E|NM_001385,p.G495E|uc003yly.4,p.G495E|uc010mcf.1,p.G65E	retained_intron, protein_coding, processed_transcript	uc010mcf.1	nonsynonymous SNV	exon3	c.G194A	p.G65E	CTPTPVERAPYKGEVATLKSRVTKE	CTPTPVERAPYKEEVATLKSRVTKE	1.0	7.0	unscreened	-	1913_8:105393502-105393502 C>T_CTPTPVERAPYKEEVATLKSRVTKE
2:98750376-98750376 G>A	0.0	1913	MELANOMA	-	-	-	-	VWA3B	NM_144992,p.R321K|uc002syo.3,p.R321K|ENST00000433678,p.R321K|ENST00000416277,p.R321K|uc010yvh.2,p.R171K|ENST00000451075,p.R171K|ENST00000435344,p.R321K|uc002sym.3,p.R321K|ENST00000477737,p.R321K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yvh.2	nonsynonymous SNV	exon6	c.G512A	p.R171K	TKDGDNVMTWNSRKLKGKLPPGAGV	TKDGDNVMTWNSKKLKGKLPPGAGV	3.0	5.0	unscreened	-	1913_2:98750376-98750376 G>A_TKDGDNVMTWNSKKLKGKLPPGAGV
12:52981587-52981587 A>C	0.0	1913	MELANOMA	-	-	-	-	KRT72	ENST00000293745,p.C380G|uc010sns.1,p.C338G|ENST00000537672,p.C380G|NM_080747,p.C380G|uc010snt.1,p.C192G|ENST00000354310,p.C338G|uc001saq.2,p.C380G|ENST00000398066,p.C192G|uc001sar.2,p.C380G|NM_001146225,p.C380G|NM_001146226,p.C338G	protein_coding, nonsense_mediated_decay	uc010snt.1	nonsynonymous SNV	exon8	c.T574G	p.C192G	ETAIADAEQRGDCALKDARAKLDEL	ETAIADAEQRGDGALKDARAKLDEL	1.0	2.0	unscreened	-	1913_12:52981587-52981587 A>C_ETAIADAEQRGDGALKDARAKLDEL
1:152276920-152276920 C>T	0.0	1913	MELANOMA	-	-	-	-	FLG	uc001ezu.1,p.G3481E|NM_002016,p.G3481E|ENST00000368799,p.G3481E	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.G10442A	p.G3481E	SQGRSDASRGQSGSRSASRQTRNDE	SQGRSDASRGQSESRSASRQTRNDE	3.0	9.0	unscreened	-	1913_1:152276920-152276920 C>T_SQGRSDASRGQSESRSASRQTRNDE
12:62104197-62104197 A>G	0.0	1913	MELANOMA	-	-	ID=COSM1251857;OCCURENCE=1(oesophagus)	-	FAM19A2	ENST00000550003,p.V32A|uc001sqx.3,p.V129A|uc001sqw.3,p.V129A|ENST00000551619,p.V129A|ENST00000416284,p.V129A|NM_178539,p.V129A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sqx.3	nonsynonymous SNV	exon6	c.T386C	p.V129A	SCSSGNKVKTTRVTH	SCSSGNKVKTTRATH	5.0	8.0	unscreened	-	1913_12:62104197-62104197 A>G_SCSSGNKVKTTRATH
21:41561106-41561106 C>T	0.0	1913	MELANOMA	-	-	ID=COSM140289;OCCURENCE=1(skin)	-	DSCAM	ENST00000400454,p.E806K|NM_001271534,p.E806K|uc031rvr.1,p.E806K|ENST00000404019,p.E558K|NM_001389,p.E806K|uc002yyq.1,p.E806K	protein_coding	uc031rvr.1	nonsynonymous SNV	exon12	c.G2416A	p.E806K	PNTTLATQGQKKEMSCTAHGEKPII	PNTTLATQGQKKKMSCTAHGEKPII	1.0	7.0	unscreened	-	1913_21:41561106-41561106 C>T_PNTTLATQGQKKKMSCTAHGEKPII
11:92532202-92532202 G>A	0.0	1913	MELANOMA	-	-	-	2	FAT3	ENST00000298047,p.G2008E|ENST00000409404,p.G2008E|uc001pdj.4,p.G2008E|NM_001008781,p.G2008E|ENST00000525166,p.G1858E	retained_intron, protein_coding, processed_transcript	uc001pdj.4	nonsynonymous SNV	exon9	c.G6023A	p.G2008E	TNITKVAIVNAVGNRLNEPLKYSIL	TNITKVAIVNAVENRLNEPLKYSIL	1.0	3.0	unscreened	-	1913_11:92532202-92532202 G>A_TNITKVAIVNAVENRLNEPLKYSIL
11:7817931-7817931 C>T	0.0	1913	MELANOMA	-	-	-	-	OR5P2	uc001mfp.1,p.D187N|NM_153444,p.D187N|ENST00000329434,p.D187N	protein_coding	uc001mfp.1	nonsynonymous SNV	exon1	c.G559A	p.D187N	CDFAPLLELSCSDISVSTVVLSFSS	CDFAPLLELSCSNISVSTVVLSFSS	1.0	7.0	unscreened	-	1913_11:7817931-7817931 C>T_CDFAPLLELSCSNISVSTVVLSFSS
3:124416467-124416467 T>C	0.0	1913	MELANOMA	-	-	-	-	KALRN	ENST00000428018,p.I847T|NM_001024660,p.I2576T|ENST00000291478,p.I879T|uc003ehg.3,p.I2576T|ENST00000360013,p.I2576T|NM_007064,p.I879T|uc003ehk.3,p.I879T	retained_intron, protein_coding, processed_transcript	uc003ehk.3	nonsynonymous SNV	exon22	c.T2636C	p.I879T	KVQGVPAAPNRPIAQERSCTSVILR	KVQGVPAAPNRPTAQERSCTSVILR	4.0	2.0	unscreened	-	1913_3:124416467-124416467 T>C_KVQGVPAAPNRPTAQERSCTSVILR
1:158609776-158609776 C>T	0.0	1913	MELANOMA	-	-	-	-	SPTA1	ENST00000368147,p.E1587K|uc001fst.1,p.E1587K|NM_003126,p.E1587K|ENST00000368148,p.E1587K	protein_coding, processed_transcript	uc001fst.1	nonsynonymous SNV	exon34	c.G4759A	p.E1587K	EEAMKEQLEQLKEHWDHLLERTNDK	EEAMKEQLEQLKKHWDHLLERTNDK	1.0	8.0	unscreened	-	1913_1:158609776-158609776 C>T_EEAMKEQLEQLKKHWDHLLERTNDK
5:11098853-11098853 C>T	0.0	1913	MELANOMA	-	-	-	2	CTNND2	uc010itt.2,p.G733E|NM_001332,p.G824E|ENST00000458100,p.G391E|uc011cmx.1,p.G391E|uc003jfa.1,p.G824E|ENST00000503622,p.G487E|ENST00000511377,p.G733E|NM_001288717,p.G391E|ENST00000513588,p.G578E|NM_001288715,p.G733E|ENST00000304623,p.G824E|uc011cmy.1,p.G487E|uc011cmz.1,p.G391E|NM_001288716,p.G487E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cmz.1	nonsynonymous SNV	exon14	c.G1172A	p.G391E	KKKKKKSQDQWDGVGPLPDCAEPPK	KKKKKKSQDQWDEVGPLPDCAEPPK	1.0	8.0	unscreened	-	1913_5:11098853-11098853 C>T_KKKKKKSQDQWDEVGPLPDCAEPPK
5:33577114-33577114 T>A	0.0	1913	MELANOMA	-	-	-	-	ADAMTS12	NM_030955,p.N1006I|ENST00000352040,p.N921I|uc003jia.1,p.N1006I|ENST00000504830,p.N1006I|uc010iuq.1,p.N921I	protein_coding, processed_transcript	uc010iuq.1	nonsynonymous SNV	exon17	c.A2762T	p.N921I	QQCPSSRRVLKPNKGTISNGKNPPT	QQCPSSRRVLKPIKGTISNGKNPPT	1.0	8.0	unscreened	-	1913_5:33577114-33577114 T>A_QQCPSSRRVLKPIKGTISNGKNPPT
1:159785426-159785426 G>A	0.0	1913	MELANOMA	-	-	-	-	FCRL6	ENST00000368106,p.S427N|uc001fud.4,p.S427N|NM_001004310,p.S427N	retained_intron, protein_coding	uc001fud.4	nonsynonymous SNV	exon10	c.G1280A	p.S427N	VNMRSRTLQEPLSDCEEVLC	VNMRSRTLQEPLNDCEEVLC	3.0	7.0	unscreened	-	1913_1:159785426-159785426 G>A_VNMRSRTLQEPLNDCEEVLC
12:119594368-119594368 C>T	0.0	1913	MELANOMA	-	-	-	-	SRRM4	ENST00000267260,p.S534F|uc001txa.2,p.S534F|NM_194286,p.S534F	protein_coding, processed_transcript	uc001txa.2	nonsynonymous SNV	exon13	c.C1601T	p.S534F	PSPSSSGSLSSTSSWYSSSSSRSAS	PSPSSSGSLSSTFSWYSSSSSRSAS	1.0	7.0	unscreened	-	1913_12:119594368-119594368 C>T_PSPSSSGSLSSTFSWYSSSSSRSAS
3:47619161-47619161 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1309202,COSM3775086;OCCURENCE=2(urinary_tract)	-	CSPG5	uc003cro.4,p.D119N|NM_006574,p.D119N|ENST00000383738,p.D119N|NM_001206943,p.D119N|uc021wxh.1,p.D119N|ENST00000264723,p.D119N|NM_001206944,p.D119N|uc003crp.4,p.D119N	protein_coding, processed_transcript	uc021wxh.1	nonsynonymous SNV	exon2	c.G355A	p.D119N	GLGGVTAEAGSGDAQALPATLQAPH	GLGGVTAEAGSGNAQALPATLQAPH	3.0	3.0	unscreened	-	1913_3:47619161-47619161 C>T_GLGGVTAEAGSGNAQALPATLQAPH
14:105617715-105617715 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1719192;OCCURENCE=2(NS)	-	JAG2	ENST00000331782,p.S391L|uc001yqh.4,p.S391L|NM_002226,p.S391L|NM_145159,p.S391L|uc001yqg.4,p.S391L|ENST00000347004,p.S391L	retained_intron, protein_coding	uc001yqh.4	nonsynonymous SNV	exon9	c.C1172T	p.S391L	GPTCALDIDECASNPCAAGGTCVDQ	GPTCALDIDECALNPCAAGGTCVDQ	3.0	3.0	unscreened	-	1913_14:105617715-105617715 G>A_GPTCALDIDECALNPCAAGGTCVDQ
7:99315214-99315214 C>T	0.0	1913	MELANOMA	-	-	-	-	CYP3A7,CYP3A7-CYP3AP1	NM_001256497,p.D123N|uc003uru.3,p.D123N|uc031syj.1,p.D123N|NM_000765,p.D123N|ENST00000336374,p.D123N	retained_intron, protein_coding	uc031syj.1	nonsynonymous SNV	exon5	c.G367A	p.D123N	VGFMKNAISIAEDEEWKRIRSLLSP	VGFMKNAISIAENEEWKRIRSLLSP	2.0	3.0	unscreened	-	1913_7:99315214-99315214 C>T_VGFMKNAISIAENEEWKRIRSLLSP
7:82451978-82451978 G>A	0.0	1913	MELANOMA	-	-	-	-	PCLO	ENST00000333891,p.S4875F|NM_033026,p.S4875F|uc003uht.1,p.S317F|uc003uhu.1,p.S296F|uc003uhv.2,p.S4875F|ENST00000423517,p.S4875F|uc003uhx.2,p.S4875F|NM_014510,p.S4875F	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon20	c.C14624T	p.S4875F	PSKDMQVPTIEKSHSSPGSSKSSSE	PSKDMQVPTIEKFHSSPGSSKSSSE	1.0	5.0	unscreened	-	1913_7:82451978-82451978 G>A_PSKDMQVPTIEKFHSSPGSSKSSSE
2:232458690-232458690 C>T	0.0	1913	MELANOMA	-	-	-	-	C2orf57	ENST00000313965,p.S343F|uc002vrz.3,p.S343F|NM_152614,p.S343F	protein_coding	uc002vrz.3	nonsynonymous SNV	exon1	c.C1028T	p.S343F	VPSLVGSVSSAFSSGLVSGTSSALR	VPSLVGSVSSAFFSGLVSGTSSALR	1.0	4.0	unscreened	-	1913_2:232458690-232458690 C>T_VPSLVGSVSSAFFSGLVSGTSSALR
6:35210951-35210951 G>A	0.0	1913	MELANOMA	-	-	-	-	SCUBE3	ENST00000394681,p.G632E|ENST00000274938,p.G616E|uc003okg.1,p.G615E|uc003okh.1,p.G503E|uc003okf.1,p.G616E|NM_152753,p.G616E	protein_coding	uc003okh.1	nonsynonymous SNV	exon15	c.G1508A	p.G503E	DYELAHKPGLVAGERAEPMESCRPG	DYELAHKPGLVAEERAEPMESCRPG	4.0	2.0	unscreened	-	1913_6:35210951-35210951 G>A_DYELAHKPGLVAEERAEPMESCRPG
5:153078574-153078574 G>A	0.0	1913	MELANOMA	-	-	-	-	GRIA1	uc011dcw.2,p.G385R|ENST00000521843,p.G396R|ENST00000340592,p.G465R|ENST00000518783,p.G475R|uc011dcz.2,p.G475R|NM_001258022,p.G475R|NM_001258023,p.G396R|NM_001114183,p.G465R|ENST00000518142,p.G385R|uc011dcy.2,p.G475R|uc003luy.4,p.G465R|uc003lva.4,p.G465R|NM_000827,p.G465R|ENST00000448073,p.G475R|ENST00000285900,p.G465R|uc011dcx.2,p.G396R|uc003luz.4,p.G370R|NM_001258020,p.G370R|uc010jia.1,p.G445R|NM_001258021,p.G475R|NM_001258019,p.G385R	retained_intron, protein_coding, processed_transcript	uc011dcz.2	nonsynonymous SNV	exon10	c.G1423A	p.G475R	SYRLEIVSDGKYGARDPDTKAWNGM	SYRLEIVSDGKYRARDPDTKAWNGM	1.0	2.0	unscreened	-	1913_5:153078574-153078574 G>A_SYRLEIVSDGKYRARDPDTKAWNGM
10:67680264-67680264 G>A	0.0	1913	MELANOMA	-	-	-	-	CTNNA3	ENST00000373735,p.P177S|NM_001127384,p.P838S|NM_013266,p.P838S|ENST00000373744,p.P838S|uc009xpn.1,p.P838S|ENST00000433211,p.P838S|uc001jmw.2,p.P838S	protein_coding, processed_transcript, nonsense_mediated_decay	uc009xpn.1	nonsynonymous SNV	exon18	c.C2512T	p.P838S	YIASTKIIRIQSPAGPRHPVVMWRM	YIASTKIIRIQSSAGPRHPVVMWRM	1.0	4.0	unscreened	-	1913_10:67680264-67680264 G>A_YIASTKIIRIQSSAGPRHPVVMWRM
1:152058843-152058843 C>T	0.0	1913	MELANOMA	-	-	-	-	TCHHL1	NM_001008536,p.E439K|uc001ezo.1,p.E439K|ENST00000368806,p.E439K	protein_coding	uc001ezo.1	nonsynonymous SNV	exon3	c.G1315A	p.E439K	QELQGLSKSKDAEKGSETQYLSSEG	QELQGLSKSKDAKKGSETQYLSSEG	1.0	8.0	unscreened	-	1913_1:152058843-152058843 C>T_QELQGLSKSKDAKKGSETQYLSSEG
1:14925499-14925499 G>A	0.0	1913	MELANOMA	-	-	-	-	KAZN	uc001avm.4,p.M2I|ENST00000422387,p.M2I|ENST00000503743,p.M2I|NM_201628,p.M2I|ENST00000376030,p.M2I|uc009vog.1,p.M2I|NM_015209,p.M2I	retained_intron, protein_coding	uc009vog.1	nonsynonymous SNV	exon1	c.G6A	p.M2I	MMEDNKQLALRIDG	MIEDNKQLALRIDG	3.0	2.0	unscreened	-	1913_1:14925499-14925499 G>A_MIEDNKQLALRIDG
1:190067368-190067368 C>T	0.0	1913	MELANOMA	-	-	-	-	BRINP3	ENST00000367462,p.G694E|uc010pot.1,p.G592E|uc001gse.1,p.G694E|ENST00000534846,p.G592E|NM_199051,p.G694E	protein_coding, processed_transcript	uc010pot.1	nonsynonymous SNV	exon7	c.G1775A	p.G592E	DLILQLDYPYTQGSQDSALLQLLEI	DLILQLDYPYTQESQDSALLQLLEI	1.0	8.0	unscreened	-	1913_1:190067368-190067368 C>T_DLILQLDYPYTQESQDSALLQLLEI
7:132070012-132070012 C>T	0.0	1913	MELANOMA	-	-	-	-	PLXNA4	uc003vrc.2,p.G472R|NM_001105543,p.G472R|ENST00000423507,p.G472R	retained_intron, protein_coding	uc003vrc.2	nonsynonymous SNV	exon4	c.G1414A	p.G472R	GTSLCPTLELQTGPRSHRATVTLEL	GTSLCPTLELQTRPRSHRATVTLEL	1.0	6.0	unscreened	-	1913_7:132070012-132070012 C>T_GTSLCPTLELQTRPRSHRATVTLEL
10:50902592-50902592 G>A	0.0	1913	MELANOMA	-	-	-	-	C10orf53	ENST00000374111,p.G76S|NM_001042427,p.G76S|uc001jib.3,p.G76S	protein_coding	uc001jib.3	nonsynonymous SNV	exon3	c.G226A	p.G76S	HCNIKDLEFGGDGKLDPLCEKARIA	HCNIKDLEFGGDSKLDPLCEKARIA	1.0	2.0	unscreened	-	1913_10:50902592-50902592 G>A_HCNIKDLEFGGDSKLDPLCEKARIA
3:40557392-40557392 G>A	0.0	1913	MELANOMA	-	-	-	-	ZNF620	ENST00000420891,p.D103N|NM_175888,p.D103N|ENST00000314529,p.D103N|uc003ckk.4,p.D103N	protein_coding, nonsense_mediated_decay	uc003ckk.4	nonsynonymous SNV	exon5	c.G307A	p.D103N	EARTEKEGLTPKDHVSKETESFRLM	EARTEKEGLTPKNHVSKETESFRLM	1.0	8.0	unscreened	-	1913_3:40557392-40557392 G>A_EARTEKEGLTPKNHVSKETESFRLM
5:26881601-26881601 A>T	0.0	1913	MELANOMA	-	-	-	-	CDH9	uc011cnv.1,p.F265I|ENST00000231021,p.F672I|NM_016279,p.F672I|uc003jgs.1,p.F672I	retained_intron, protein_coding	uc011cnv.1	nonsynonymous SNV	exon5	c.T793A	p.F265I	NDEGGGEEDTQAFDIGTLRNPEARE	NDEGGGEEDTQAIDIGTLRNPEARE	1.0	8.0	unscreened	-	1913_5:26881601-26881601 A>T_NDEGGGEEDTQAIDIGTLRNPEARE
2:61528252-61528252 C>T	1.0	1913	MELANOMA	-	-	-	-	USP34	ENST00000398571,p.G1321E|uc002sbe.3,p.G1321E|NM_014709,p.G1321E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002sbe.3	nonsynonymous SNV	exon29	c.G3962A	p.G1321E	FVSLGAPRRERKGEGVQLPASCLPP	FVSLGAPRRERKEEGVQLPASCLPP	10.0	3.0	unscreened	-	1913_2:61528252-61528252 C>T_FVSLGAPRRERKEEGVQLPASCLPP
19:6833631-6833631 G>A	0.0	1913	MELANOMA	-	-	-	2	VAV1	ENST00000304076,p.G568E|NM_001258207,p.G536E|uc002mfu.2,p.G568E|NM_005428,p.G568E|uc010dva.2,p.G568E|NM_001258206,p.G568E|ENST00000539284,p.G471E|uc002mfv.2,p.G513E|ENST00000602142,p.G568E|uc010xjh.2,p.G536E|ENST00000596764,p.G536E|ENST00000599806,p.G513E	retained_intron, protein_coding	uc010xjh.2	nonsynonymous SNV	exon16	c.G1607A	p.G536E	ECLGRVPPCGRHGQDFPGTMKKDKL	ECLGRVPPCGRHEQDFPGTMKKDKL	3.0	8.0	unscreened	-	1913_19:6833631-6833631 G>A_ECLGRVPPCGRHEQDFPGTMKKDKL
11:68181354-68181354 G>A	1.0	1913	MELANOMA	-	-	-	-	LRP5	NM_001291902,p.D320N|NM_002335,p.D901N|ENST00000294304,p.D901N|uc001ont.3,p.D901N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ont.3	nonsynonymous SNV	exon12	c.G2701A	p.D901N	VMDILVFHSSRQDGLNDCMHNNGQC	VMDILVFHSSRQNGLNDCMHNNGQC	6.0	5.0	unscreened	-	1913_11:68181354-68181354 G>A_VMDILVFHSSRQNGLNDCMHNNGQC
16:52473816-52473816 T>A	0.0	1913	MELANOMA	-	-	-	-	TOX3	NM_001146188,p.N346I|ENST00000219746,p.N351I|NM_001080430,p.N351I|uc010vgt.1,p.N346I|ENST00000407228,p.N346I|uc002egw.2,p.N351I	retained_intron, protein_coding, nonsense_mediated_decay	uc010vgt.1	nonsynonymous SNV	exon8	c.A1037T	p.N346I	TIRSVQQTLASTNLTSSLLLNTPLS	TIRSVQQTLASTILTSSLLLNTPLS	1.0	7.0	unscreened	-	1913_16:52473816-52473816 T>A_TIRSVQQTLASTILTSSLLLNTPLS
7:143096380-143096380 G>A	0.0	1913	MELANOMA	-	-	-	-	EPHA1	NM_005232,p.P321L|ENST00000275815,p.P321L|uc003wcz.3,p.P321L	retained_intron, protein_coding, processed_transcript	uc003wcz.3	nonsynonymous SNV	exon5	c.C962T	p.P321L	TICTCESGHYRAPGEGPQVACTGPP	TICTCESGHYRALGEGPQVACTGPP	4.0	6.0	unscreened	-	1913_7:143096380-143096380 G>A_TICTCESGHYRALGEGPQVACTGPP
2:162627492-162627492 G>A	0.0	1913	MELANOMA	-	-	-	-	SLC4A10	NM_001178016,p.E31K|uc010zcs.2,p.E31K|ENST00000375514,p.E31K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zcs.2	nonsynonymous SNV	exon3	c.G91A	p.E31K	EPFQSLSHQRNDEEAVVDRGGTRSI	EPFQSLSHQRNDKEAVVDRGGTRSI	2.0	8.0	unscreened	-	1913_2:162627492-162627492 G>A_EPFQSLSHQRNDKEAVVDRGGTRSI
6:36288936-36288936 T>C	0.0	1913	MELANOMA	-	-	-	-	C6orf222	NM_001010903,p.Q555R|ENST00000437635,p.Q555R|uc003oly.3,p.Q555R	protein_coding	uc003oly.3	nonsynonymous SNV	exon10	c.A1664G	p.Q555R	VALLQEVDGQLGQQIRRHPSFKRFF	VALLQEVDGQLGRQIRRHPSFKRFF	1.0	7.0	unscreened	-	1913_6:36288936-36288936 T>C_VALLQEVDGQLGRQIRRHPSFKRFF
10:55582340-55582340 C>T	0.0	1913	MELANOMA	-	-	-	-	PCDH15	ENST00000395432,p.E1676K|NM_001142767,p.E1676K|uc021pqz.1,p.E1693K|uc021pqy.1,p.E1718K|NM_001142765,p.E1647K|NM_001142763,p.E1723K|NM_033056,p.E1716K|ENST00000437009,p.E1647K|ENST00000395430,p.E1713K|uc010qhv.1,p.E1713K|uc010qhz.1,p.E1718K|uc010qia.1,p.E1696K|uc010qhw.1,p.E1676K|NM_001142766,p.E1713K|NM_001142773,p.E1693K|ENST00000320301,p.E1716K|uc010qib.1,p.E1693K|uc010qhy.1,p.E1723K|ENST00000361849,p.E1718K|NM_001142768,p.E1696K|NM_001142764,p.E1718K|uc010qhx.1,p.E1647K|ENST00000395433,p.E1693K|uc001jju.1,p.E1716K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqz.1	nonsynonymous SNV	exon31	c.G5077A	p.E1693K	RPCVLHSSLSRRETPICMLPIETER	RPCVLHSSLSRRKTPICMLPIETER	1.0	4.0	unscreened	-	1913_10:55582340-55582340 C>T_RPCVLHSSLSRRKTPICMLPIETER
5:140753837-140753837 G>A	0.0	1913	MELANOMA	-	-	-	-	PCDHGA6	ENST00000517434,p.G63R|NM_032086,p.G63R|uc011dau.2,p.G63R|NM_018919,p.G63R|uc003ljy.2,p.G63R	protein_coding	uc011dau.2	nonsynonymous SNV	exon1	c.G187A	p.G63R	DLGLEPQELAEHGVRIVSRGRMQLF	DLGLEPQELAEHRVRIVSRGRMQLF	4.0	7.0	unscreened	-	1913_5:140753837-140753837 G>A_DLGLEPQELAEHRVRIVSRGRMQLF
10:61833536-61833536 C>T	0.0	1913	MELANOMA	-	-	-	-	ANK3	uc001jky.3,p.G2368E|NM_020987,p.G2368E|ENST00000280772,p.G2368E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jky.3	nonsynonymous SNV	exon37	c.G7103A	p.G2368E	KEMYVYQKDLSRGDINLKDFLPEKH	KEMYVYQKDLSREDINLKDFLPEKH	3.0	5.0	unscreened	-	1913_10:61833536-61833536 C>T_KEMYVYQKDLSREDINLKDFLPEKH
11:58482794-58482794 C>T	0.0	1913	MELANOMA	-	-	-	-	GLYAT	NM_201648,p.E62K|ENST00000278400,p.E62K|ENST00000529732,p.E62K|uc001nnc.3,p.E62K|NM_005838,p.E62K|ENST00000344743,p.E62K|uc001nnb.3,p.E62K	retained_intron, protein_coding	uc001nnc.3	nonsynonymous SNV	exon3	c.G184A	p.E62K	WPDFNTVVVCPQEQDMTDDLDHYTN	WPDFNTVVVCPQKQDMTDDLDHYTN	1.0	7.0	unscreened	-	1913_11:58482794-58482794 C>T_WPDFNTVVVCPQKQDMTDDLDHYTN
11:5529680-5529680 C>T	0.0	1913	MELANOMA	-	-	-	-	UBQLN3	uc001may.1,p.S370N|NM_017481,p.S370N|uc021qcw.1,p.S370N|ENST00000311659,p.S370N	protein_coding	uc021qcw.1	nonsynonymous SNV	exon1	c.G1109A	p.S370N	TYLQGTASALSQSQEPPPSVNRVPP	TYLQGTASALSQNQEPPPSVNRVPP	1.0	7.0	unscreened	-	1913_11:5529680-5529680 C>T_TYLQGTASALSQNQEPPPSVNRVPP
15:26828492-26828492 C>T	0.0	1913	MELANOMA	-	-	-	-	GABRB3	ENST00000554556,p.G104R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	ENST00000554556	nonsynonymous SNV	exon4	c.G310A	p.G104R	QEIPPGRAELHSGN	QEIPPGRAELHSRN	1.0	9.0	unscreened	-	1913_15:26828492-26828492 C>T_QEIPPGRAELHSRN
19:10089276-10089276 C>T	1.0	1913	MELANOMA	-	-	-	-	COL5A3	NM_015719,p.G998S|ENST00000264828,p.G998S|uc002mmq.1,p.G998S	retained_intron, protein_coding	uc002mmq.1	nonsynonymous SNV	exon41	c.G2992A	p.G998S	GDPGPTGLKGDKGPPGPVGANGSPG	GDPGPTGLKGDKSPPGPVGANGSPG	7.0	2.0	unscreened	-	1913_19:10089276-10089276 C>T_GDPGPTGLKGDKSPPGPVGANGSPG
14:81606063-81606063 G>A	0.0	1913	MELANOMA	0.0005	-	-	1	TSHR	ENST00000541158,p.G245S|uc001xvd.1,p.G245S|NM_000369,p.G245S|ENST00000298171,p.G245S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xvd.1	nonsynonymous SNV	exon9	c.G733A	p.G245S	VSQTSVTALPSKGLEHLKELIARNT	VSQTSVTALPSKSLEHLKELIARNT	4.0	8.0	unscreened	-	1913_14:81606063-81606063 G>A_VSQTSVTALPSKSLEHLKELIARNT
11:36595994-36595994 G>T	0.0	1913	MELANOMA	-	-	-	-	RAG1	ENST00000299440,p.K380N|uc021qgb.1,p.K380N|uc001mwu.4,p.K380N|ENST00000534663,p.K380N|NM_000448,p.K380N	protein_coding, processed_transcript, nonsense_mediated_decay	uc021qgb.1	nonsynonymous SNV	exon1	c.G1140T	p.K380N	SLEKYNHHISSHKESKEIFVHINKG	SLEKYNHHISSHNESKEIFVHINKG	1.0	1.0	unscreened	-	1913_11:36595994-36595994 G>T_SLEKYNHHISSHNESKEIFVHINKG
2:131520271-131520271 G>A	0.0	1913	MELANOMA	-	-	-	-	AMER3	NM_001105193,p.G209E|uc010fmv.2,p.G209E|uc021voy.1,p.G209E|uc010fmu.1,p.G209E|uc010fms.1,p.G209E|ENST00000321420,p.G209E|NM_152698,p.G209E|uc010fmt.1,p.G209E|NM_001105194,p.G209E|ENST00000423981,p.G209E|uc002trw.2,p.G209E|NM_001105195,p.G209E	protein_coding	uc021voy.1	nonsynonymous SNV	exon1	c.G626A	p.G209E	RSKAFLPPGEGPGLDGLCQDLLDSE	RSKAFLPPGEGPELDGLCQDLLDSE	1.0	5.0	unscreened	-	1913_2:131520271-131520271 G>A_RSKAFLPPGEGPELDGLCQDLLDSE
17:10400492-10400492 G>A	0.0	1913	MELANOMA	-	-	-	-	MYH1	NM_005963,p.T1517I|uc002gmo.3,p.T1517I|ENST00000226207,p.T1517I	protein_coding	uc002gmo.3	nonsynonymous SNV	exon33	c.C4550T	p.T1517I	ENKNLQQEISDLTEQIAEGGKRIHE	ENKNLQQEISDLIEQIAEGGKRIHE	1.0	7.0	unscreened	-	1913_17:10400492-10400492 G>A_ENKNLQQEISDLIEQIAEGGKRIHE
22:31536040-31536040 C>T	0.0	1913	MELANOMA	-	-	-	-	PLA2G3	NM_015715,p.G101R|uc003aka.3,p.G101R|ENST00000215885,p.G101R	protein_coding	uc003aka.3	nonsynonymous SNV	exon1	c.G301A	p.G101R	HETAWGSFIHTPGPELQRALATLQS	HETAWGSFIHTPRPELQRALATLQS	1.0	3.0	unscreened	-	1913_22:31536040-31536040 C>T_HETAWGSFIHTPRPELQRALATLQS
1:207140975-207140975 C>T	0.0	1913	MELANOMA	-	-	-	-	FCAMR	ENST00000400962,p.E21K|NM_001170631,p.E21K|uc001hfa.4,p.E21K|ENST00000324852,p.E21K|uc009xca.2,p.E21K|NM_032029,p.E21K|NM_001122979,p.E21K|uc001hfb.3,p.E21K|ENST00000450945,p.E21K	protein_coding, processed_transcript, nonsense_mediated_decay	uc009xca.2	nonsynonymous SNV	exon2	c.G61A	p.E21K	PGEQKEVVRRGREVDYSRLIAGTLP	PGEQKEVVRRGRKVDYSRLIAGTLP	1.0	2.0	unscreened	-	1913_1:207140975-207140975 C>T_PGEQKEVVRRGRKVDYSRLIAGTLP
10:118383542-118383542 C>T	0.0	1913	MELANOMA	-	-	-	-	PNLIPRP2	ENST00000537242,p.P46S	retained_intron, protein_coding, processed_transcript, polymorphic_pseudogene	ENST00000537242	nonsynonymous SNV	exon4	c.C136T	p.P46S	WAGTLQRPVKLLPWSPEDIDTRFLL	WAGTLQRPVKLLSWSPEDIDTRFLL	1.0	5.0	unscreened	-	1913_10:118383542-118383542 C>T_WAGTLQRPVKLLSWSPEDIDTRFLL
11:431764-431764 C>T	0.0	1913	MELANOMA	-	-	-	-	ANO9	ENST00000332826,p.E157K|uc001lpi.2,p.E157K|NM_001012302,p.E157K	retained_intron, protein_coding	uc001lpi.2	nonsynonymous SNV	exon7	c.G469A	p.E157K	GVFEARFPLHKGEGRLKKTWARWRH	GVFEARFPLHKGKGRLKKTWARWRH	2.0	2.0	unscreened	-	1913_11:431764-431764 C>T_GVFEARFPLHKGKGRLKKTWARWRH
3:51743154-51743154 C>T	0.0	1913	MELANOMA	-	-	-	-	GRM2	uc010hlv.3,p.P52L|ENST00000395052,p.P52L|ENST00000419928,p.P52L|NM_000839,p.P52L|ENST00000442933,p.P52L|ENST00000296479,p.P52L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hlv.3	nonsynonymous SNV	exon2	c.C155T	p.P52L	VHQKGGPAEDCGPVNEHRGIQRLEA	VHQKGGPAEDCGLVNEHRGIQRLEA	1.0	3.0	unscreened	-	1913_3:51743154-51743154 C>T_VHQKGGPAEDCGLVNEHRGIQRLEA
X:84561251-84561251 C>T	0.0	1913	MELANOMA	-	-	-	-	POF1B	ENST00000490301,p.D299N	protein_coding, nonsense_mediated_decay	ENST00000490301	nonsynonymous SNV	exon8	c.G895A	p.D299N	SLFDIHYQTWNTD	SLFDIHYQTWNTN	1.0	9.0	unscreened	-	1913_X:84561251-84561251 C>T_SLFDIHYQTWNTN
1:152326306-152326306 C>T	0.0	1913	MELANOMA	-	-	-	-	FLG2	NM_001014342,p.G1319E|uc001ezw.4,p.G1319E|ENST00000388718,p.G1319E	protein_coding	uc001ezw.4	nonsynonymous SNV	exon3	c.G3956A	p.G1319E	VRRRQGTTHGQRGDTTRHGHSGHGQ	VRRRQGTTHGQREDTTRHGHSGHGQ	1.0	2.0	unscreened	-	1913_1:152326306-152326306 C>T_VRRRQGTTHGQREDTTRHGHSGHGQ
2:138373778-138373778 C>T	0.0	1913	MELANOMA	-	-	-	-	THSD7B	ENST00000272643,p.R1156C|ENST00000413152,p.R1125C|ENST00000409968,p.R1153C	retained_intron, protein_coding, processed_transcript	ENST00000413152	nonsynonymous SNV	exon18	c.C3373T	p.R1125C	QSCDPHTMQRRTRHLLRPSLNSRTC	QSCDPHTMQRRTCHLLRPSLNSRTC	1.0	5.0	unscreened	-	1913_2:138373778-138373778 C>T_QSCDPHTMQRRTCHLLRPSLNSRTC
21:43838546-43838546 G>C	0.0	1913	MELANOMA	-	-	-	-	UBASH3A	NM_001243467,p.V254L|uc010gpe.3,p.V254L|ENST00000291535,p.V254L|uc002zbe.3,p.V292L|NM_018961,p.V292L|NM_001001895,p.V254L|ENST00000319294,p.V292L|ENST00000398367,p.V254L|uc002zbf.3,p.V254L	retained_intron, protein_coding	uc010gpe.3	nonsynonymous SNV	exon6	c.G760C	p.V254L	TLRALFQYKPQNVDELTLSPGDYIF	TLRALFQYKPQNLDELTLSPGDYIF	1.0	5.0	unscreened	-	1913_21:43838546-43838546 G>C_TLRALFQYKPQNLDELTLSPGDYIF
3:121647961-121647961 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1418224;OCCURENCE=1(large_intestine),1(skin)	-	SLC15A2	ENST00000489711,p.R492C|uc003eep.2,p.R492C|uc011bjn.1,p.R461C|ENST00000295605,p.R461C|NM_021082,p.R492C|NM_001145998,p.R461C	protein_coding, processed_transcript	uc011bjn.1	nonsynonymous SNV	exon15	c.C1381T	p.R461C	SVQEKNWYSLVIREDGNSISSMMVK	SVQEKNWYSLVICEDGNSISSMMVK	4.0	8.0	unscreened	-	1913_3:121647961-121647961 C>T_SVQEKNWYSLVICEDGNSISSMMVK
2:50464039-50464039 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1663145,COSM1663144,COSM1663142,COSM1663143;OCCURENCE=1(kidney)	-	NRXN1	ENST00000402717,p.P1137L|NM_001135659,p.P1185L|ENST00000404971,p.P1185L|ENST00000401669,p.P1145L|uc021vhh.1,p.P1145L|ENST00000401710,p.P163L|ENST00000342183,p.P110L|NM_138735,p.P110L|ENST00000406859,p.P1145L|ENST00000406316,p.P1145L|uc021vhg.1,p.P1185L|NM_004801,p.P1145L|uc010fbp.3,p.P110L|ENST00000405472,p.P1137L|uc002rxb.4,p.P817L	retained_intron, protein_coding, processed_transcript	uc021vhh.1	nonsynonymous SNV	exon17	c.C3434T	p.P1145L	GQITYKWPPNDRPSTRADRLAIGFS	GQITYKWPPNDRLSTRADRLAIGFS	1.0	7.0	unscreened	-	1913_2:50464039-50464039 G>A_GQITYKWPPNDRLSTRADRLAIGFS
1:161200607-161200607 C>T	0.0	1913	MELANOMA	-	-	-	-	NR1I3	uc001fzk.3,p.D237N|uc001fzf.3,p.D310N|uc001fzs.3,p.D99N|NM_001077474,p.D266N|ENST00000428574,p.D310N|uc001gaa.3,p.D266N|uc001fzw.3,p.D309N|uc001fzi.3,p.D276N|NM_001077469,p.D310N|uc001fzg.3,p.D281N|NM_001077475,p.D237N|uc001gac.3,p.D285N|NM_001077477,p.D276N|NM_001077478,p.D309N|NM_001077476,p.D281N|ENST00000442691,p.D309N|NM_001077473,p.D285N|ENST00000412844,p.D285N|ENST00000508740,p.D281N|ENST00000437437,p.D276N|uc009wug.3,p.D143N|ENST00000505005,p.D266N|ENST00000512372,p.D237N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009wug.3	nonsynonymous SNV	exon7	c.G427A	p.D143N	QSYIKGQQRRPRDRSPGTPWIHWSG	QSYIKGQQRRPRNRSPGTPWIHWSG	6.0	6.0	unscreened	-	1913_1:161200607-161200607 C>T_QSYIKGQQRRPRNRSPGTPWIHWSG
12:48738427-48738427 G>A	1.0	1913	MELANOMA	-	-	-	-	ZNF641	NM_001172681,p.P159S|ENST00000544117,p.P173S|ENST00000448928,p.P150S|uc001rro.2,p.P159S|uc010sls.2,p.P150S|NM_152320,p.P173S|ENST00000547026,p.P159S|NM_001172682,p.P150S|ENST00000301042,p.P173S|uc001rrn.2,p.P173S	retained_intron, protein_coding	uc010sls.2	nonsynonymous SNV	exon4	c.C448T	p.P150S	QLEGGEEQWVPDPQDLEERDILRVT	QLEGGEEQWVPDSQDLEERDILRVT	5.0	3.0	unscreened	-	1913_12:48738427-48738427 G>A_QLEGGEEQWVPDSQDLEERDILRVT
10:81373019-81373019 G>A	0.0	1913	MELANOMA	-	-	-	-	SFTPA1	ENST00000429958,p.G123R|ENST00000398636,p.G123R|NM_001164646,p.G74R|NM_001164644,p.G123R|ENST00000419470,p.G138R|uc009xry.3,p.G138R|NM_001093770,p.G138R|NM_001164645,p.G89R|ENST00000372308,p.G123R|uc001kap.3,p.G123R|ENST00000372313,p.G64R|uc001kar.3,p.G123R|uc001kao.3,p.G89R|uc021puu.1,p.G74R|ENST00000428376,p.G123R|uc001kaq.3,p.G123R|uc010qlt.2,p.G64R|NM_001164647,p.G123R|uc009xrz.3,p.G53R|ENST00000439264,p.G123R|NM_005411,p.G123R	retained_intron, protein_coding	uc021puu.1	nonsynonymous SNV	exon5	c.G220A	p.G74R	LHDFRHQILQTRGALSLQGSIMTVG	LHDFRHQILQTRRALSLQGSIMTVG	1.0	4.0	unscreened	-	1913_10:81373019-81373019 G>A_LHDFRHQILQTRRALSLQGSIMTVG
12:88379680-88379680 C>T	0.0	1913	MELANOMA	-	-	-	-	C12orf50	NM_152589,p.G358E|uc001tam.1,p.G358E|uc001tan.3,p.G373E|ENST00000298699,p.G358E|ENST00000550553,p.G319E	protein_coding, processed_transcript	uc001tan.3	nonsynonymous SNV	exon10	c.G1118A	p.G373E	ALNAPSRSRPTHGSYNKVHANREPK	ALNAPSRSRPTHESYNKVHANREPK	1.0	7.0	unscreened	-	1913_12:88379680-88379680 C>T_ALNAPSRSRPTHESYNKVHANREPK
7:7545697-7545697 C>T	0.0	1913	MELANOMA	-	-	-	-	COL28A1	uc011jxe.1,p.E11K	retained_intron, protein_coding, nonsense_mediated_decay	uc011jxe.1	nonsynonymous SNV	exon12	c.G31A	p.E11K	MDQRDPEEFRELLDLQETQAQRG	MDQRDPEEFRKLLDLQETQAQRG	3.0	4.0	unscreened	-	1913_7:7545697-7545697 C>T_MDQRDPEEFRKLLDLQETQAQRG
19:43523176-43523176 G>A	0.0	1913	MELANOMA	-	-	-	-	PSG11	uc002ovp.1,p.S30F|ENST00000306322,p.S30F|uc002ovo.1,p.S30F|ENST00000403486,p.S30F|NM_203287,p.S30F|NM_001113410,p.S30F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ovp.1	nonsynonymous SNV	exon2	c.C89T	p.S30F	LLLTVETPKPSISSSNLNPREAMET	LLLTVETPKPSIFSSNLNPREAMET	1.0	7.0	unscreened	-	1913_19:43523176-43523176 G>A_LLLTVETPKPSIFSSNLNPREAMET
20:6022114-6022114 C>T	0.0	1913	MELANOMA	-	-	-	-	LRRN4	NM_152611,p.D593N|uc002wmo.3,p.D593N|ENST00000378858,p.D593N	protein_coding	uc002wmo.3	nonsynonymous SNV	exon5	c.G1777A	p.D593N	DPPRLQGVTETTDTSALVHWCAPNS	DPPRLQGVTETTNTSALVHWCAPNS	1.0	6.0	unscreened	-	1913_20:6022114-6022114 C>T_DPPRLQGVTETTNTSALVHWCAPNS
11:106849387-106849387 C>T	0.0	1913	MELANOMA	-	-	-	-	GUCY1A2	NM_001256424,p.E149K|uc001pjf.5,p.E149K|ENST00000526355,p.E149K|uc010rvo.2,p.E149K|ENST00000347596,p.E149K|ENST00000282249,p.E149K|NM_000855,p.E149K|uc001pjg.2,p.E149K	protein_coding	uc010rvo.2	nonsynonymous SNV	exon3	c.G445A	p.E149K	CSYADHSNKEEIEDVSGILQCTANI	CSYADHSNKEEIKDVSGILQCTANI	3.0	2.0	unscreened	-	1913_11:106849387-106849387 C>T_CSYADHSNKEEIKDVSGILQCTANI
7:157997908-157997908 A>T	0.0	1913	MELANOMA	-	-	-	-	PTPRN2	NM_002847,p.L112H|uc003wno.3,p.L112H|ENST00000389418,p.L112H|uc003wnp.3,p.L95H|uc011kwa.2,p.L135H|NM_130843,p.L112H|ENST00000404321,p.L135H|ENST00000389413,p.L112H|ENST00000389416,p.L95H|ENST00000409483,p.L74H|uc003wnr.3,p.L74H|NM_130842,p.L95H|uc003wnq.3,p.L112H	protein_coding	uc011kwa.2	nonsynonymous SNV	exon4	c.T404A	p.L135H	YTQYVMDQELADLPKTYLRRPEASS	YTQYVMDQELADHPKTYLRRPEASS	1.0	5.0	unscreened	-	1913_7:157997908-157997908 A>T_YTQYVMDQELADHPKTYLRRPEASS
19:56297182-56297182 C>T	0.0	1913	MELANOMA	-	-	-	-	NLRP11	ENST00000592953,p.E872K|uc010ygf.2,p.E971K|ENST00000360133,p.E917K|uc002qmb.3,p.E872K|ENST00000589093,p.E971K|ENST00000589824,p.E917K|ENST00000443188,p.E971K|NM_145007,p.E971K|NM_001297743,p.E872K|uc002qlz.3,p.E818K	protein_coding, nonsense_mediated_decay	uc010ygf.2	nonsynonymous SNV	exon12	c.G2911A	p.E971K	NTQTQQLLMTVKERKPSLIFLSETW	NTQTQQLLMTVKKRKPSLIFLSETW	1.0	2.0	unscreened	-	1913_19:56297182-56297182 C>T_NTQTQQLLMTVKKRKPSLIFLSETW
2:162627492-162627492 G>A	0.0	1913	MELANOMA	-	-	-	-	SLC4A10	uc010fpa.1,p.E32K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fpa.1	nonsynonymous SNV	exon5	c.G94A	p.E32K	SLYIIKVLKRNDEEAVVDRGGTRSI	SLYIIKVLKRNDKEAVVDRGGTRSI	2.0	8.0	unscreened	-	1913_2:162627492-162627492 G>A_SLYIIKVLKRNDKEAVVDRGGTRSI
12:55251997-55251997 G>A	0.0	1913	MELANOMA	-	-	-	-	MUCL1	uc001sgk.3,p.D82N|ENST00000546809,p.D77N|ENST00000308796,p.D82N|NM_058173,p.D82N	retained_intron, protein_coding, processed_transcript	uc001sgk.3	nonsynonymous SNV	exon4	c.G244A	p.D82N	RKDIPVLPKWVGDLPNGRVCP	RKDIPVLPKWVGNLPNGRVCP	1.0	8.0	unscreened	-	1913_12:55251997-55251997 G>A_RKDIPVLPKWVGNLPNGRVCP
19:23170155-23170155 C>T	0.0	1913	MELANOMA	-	-	-	-	ZNF728	uc002nqz.2,p.E61K|NM_001267716,p.E61K|ENST00000594710,p.E61K	protein_coding	uc002nqz.2	nonsynonymous SNV	exon3	c.G181A	p.E61K	KPDLIIFLEQGKEPWNMKRHELVKE	KPDLIIFLEQGKKPWNMKRHELVKE	1.0	8.0	unscreened	-	1913_19:23170155-23170155 C>T_KPDLIIFLEQGKKPWNMKRHELVKE
2:196671492-196671492 A>C	0.0	1913	MELANOMA	-	-	-	-	DNAH7	ENST00000312428,p.L3383R|NM_018897,p.L3383R|uc002utj.4,p.L3383R	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon54	c.T10148G	p.L3383R	EWEDKANEFQRMLIIRCLRPDKVIP	EWEDKANEFQRMRIIRCLRPDKVIP	1.0	5.0	unscreened	-	1913_2:196671492-196671492 A>C_EWEDKANEFQRMRIIRCLRPDKVIP
1:247712513-247712513 G>A	0.0	1913	MELANOMA	-	-	ID=COSM907040,COSM907041;OCCURENCE=1(endometrium),1(liver)	-	GCSAML	ENST00000536561,p.R7Q|NM_001281835,p.R7Q|ENST00000366489,p.R7Q|NM_001281834,p.R7Q|ENST00000366491,p.R7Q	protein_coding, processed_transcript	NM_001281835	nonsynonymous SNV	exon3	c.G20A	p.R7Q	MGNYLLRKLRQEMTTFERK	MGNYLLQKLRQEMTTFERK	1.0	8.0	unscreened	-	1913_1:247712513-247712513 G>A_MGNYLLQKLRQEMTTFERK
2:214794838-214794838 G>A	0.0	1913	MELANOMA	-	-	-	-	SPAG16	ENST00000374309,p.D363N|uc002ver.4,p.D403N|uc010zjk.3,p.D363N|uc002veq.4,p.D457N|NM_024532,p.D457N|uc010fuz.3,p.D308N|ENST00000331683,p.D457N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zjk.3	nonsynonymous SNV	exon11	c.G1087A	p.D363N	HSCGNFVASSSLDKTSKIWDVNSER	HSCGNFVASSSLNKTSKIWDVNSER	1.0	5.0	unscreened	-	1913_2:214794838-214794838 G>A_HSCGNFVASSSLNKTSKIWDVNSER
16:818578-818578 G>A	0.0	1913	MELANOMA	-	-	-	-	MSLN	uc002cjy.1,p.G264D|ENST00000561896,p.G303D	protein_coding	uc002cjy.1	nonsynonymous SNV	exon6	c.G791A	p.G264D	LVLDLSMQGGRGGQARAGGRAGGVE	LVLDLSMQGGRGDQARAGGRAGGVE	1.0	8.0	unscreened	-	1913_16:818578-818578 G>A_LVLDLSMQGGRGDQARAGGRAGGVE
19:56321669-56321669 T>G	0.0	1913	MELANOMA	-	-	-	-	NLRP11	ENST00000360133,p.K103Q|ENST00000589093,p.K103Q|NM_145007,p.K103Q|ENST00000589824,p.K103Q|ENST00000593244,p.K103Q|ENST00000443188,p.K103Q|uc010ygf.2,p.K103Q	protein_coding, nonsense_mediated_decay	uc010ygf.2	nonsynonymous SNV	exon5	c.A307C	p.K103Q	RNQEACKAVMRRKFMLQWESHTFGK	RNQEACKAVMRRQFMLQWESHTFGK	1.0	6.0	unscreened	-	1913_19:56321669-56321669 T>G_RNQEACKAVMRRQFMLQWESHTFGK
7:31918657-31918657 C>T	0.0	1913	MELANOMA	-	-	-	-	PDE1C	uc003tcr.3,p.R126Q|ENST00000321453,p.R126Q|NM_001191059,p.R126Q|ENST00000396193,p.R186Q|NM_001191056,p.R126Q|ENST00000396184,p.R126Q|NM_001191057,p.R126Q|uc003tcm.2,p.R126Q|uc003tco.2,p.R186Q|uc003tcn.1,p.R126Q|uc003tcs.3,p.R126Q|ENST00000396182,p.R126Q|ENST00000396191,p.R126Q|NM_005020,p.R126Q|NM_001191058,p.R186Q	retained_intron, protein_coding, processed_transcript	uc003tcs.3	nonsynonymous SNV	exon5	c.G377A	p.R126Q	MGMMLRRSDEKPRFKSIVHAVQAGI	MGMMLRRSDEKPQFKSIVHAVQAGI	1.0	4.0	unscreened	-	1913_7:31918657-31918657 C>T_MGMMLRRSDEKPQFKSIVHAVQAGI
3:447270-447270 G>A	0.0	1913	MELANOMA	-	-	ID=COSM242499;OCCURENCE=1(prostate)	-	CHL1	uc011asi.2,p.G1131E|NM_001253387,p.G1168E|ENST00000256509,p.G1184E|NM_006614,p.G1184E|ENST00000397491,p.G1168E|uc003bot.3,p.G1184E|uc003bou.3,p.G1168E|NM_001253388,p.G1131E	protein_coding, processed_transcript, nonsense_mediated_decay	uc011asi.2	nonsynonymous SNV	exon25	c.G3392A	p.G1131E	QPTESADSLVEYGEGDHGLFSEDGS	QPTESADSLVEYEEGDHGLFSEDGS	1.0	7.0	unscreened	-	1913_3:447270-447270 G>A_QPTESADSLVEYEEGDHGLFSEDGS
20:29976959-29976959 G>A	0.0	1913	MELANOMA	0.0005	-	-	-	DEFB119	NM_001271209,p.R45C|uc031rsq.1,p.R45C|NM_153323,p.R46C|ENST00000376315,p.R46C|uc002wvu.2,p.R46C	protein_coding, processed_transcript	uc031rsq.1	nonsynonymous SNV	exon2	c.C133T	p.R45C	KDGEDSIIRCRNRKRCCVPSRYLTI	KDGEDSIIRCRNCKRCCVPSRYLTI	1.0	5.0	unscreened	-	1913_20:29976959-29976959 G>A_KDGEDSIIRCRNCKRCCVPSRYLTI
5:140503921-140503921 G>A	0.0	1913	MELANOMA	-	-	-	-	PCDHB4	uc003lip.1,p.E781K|NM_018938,p.E781K|ENST00000194152,p.E781K	protein_coding	uc003lip.1	nonsynonymous SNV	exon1	c.G2341A	p.E781K	IFPNLLVQDTGREVKENPKFRNSLV	IFPNLLVQDTGRKVKENPKFRNSLV	1.0	7.0	unscreened	-	1913_5:140503921-140503921 G>A_IFPNLLVQDTGRKVKENPKFRNSLV
19:57334999-57334999 C>T	0.0	1913	MELANOMA	-	-	-	-	PEG3,ZIM2	uc002qnu.2,p.R148K|uc002qnw.2,p.R22K|ENST00000423103,p.R148K|NM_001146186,p.R148K|uc002qnq.2,p.R22K|NM_001146184,p.R148K|uc002qnr.2,p.R22K|ENST00000221722,p.R22K|uc010etr.2,p.R148K|ENST00000326441,p.R148K|NM_001146187,p.R22K|uc002qnt.2,p.R148K|NM_001146327,p.R22K|ENST00000599935,p.R22K|NM_006210,p.R148K|NM_001146326,p.R22K|ENST00000595671,p.R22K|ENST00000593695,p.R22K|ENST00000599577,p.R148K|NM_015363,p.R22K|uc002qnv.2,p.R148K|ENST00000593711,p.R22K|ENST00000601070,p.R22K|uc010etp.2,p.R22K|ENST00000597281,p.R22K|ENST00000391708,p.R22K|uc002qnx.2,p.R22K|NM_001146185,p.R22K|ENST00000599534,p.R148K|ENST00000598410,p.R22K|ENST00000600833,p.R22K|ENST00000593931,p.R22K|uc010ygs.1,p.R22K	 nonsense_mediated_decay, protein_coding,protein_coding, processed_transcript,retained_intron	uc010ygs.1	nonsynonymous SNV	exon4	c.G65A	p.R22K	SDVTSDDDMTRNRRESSPPHSVHSF	SDVTSDDDMTRNKRESSPPHSVHSF	1.0	4.0	unscreened	-	1913_19:57334999-57334999 C>T_SDVTSDDDMTRNKRESSPPHSVHSF
1:12887338-12887338 A>C	0.0	1913	MELANOMA	-	-	-	-	PRAMEF11	ENST00000535591,p.N173K|uc001auk.2,p.N173K|ENST00000437584,p.N173K	protein_coding	uc001auk.2	nonsynonymous SNV	exon3	c.T519G	p.N173K	MVNLDCIQEVEVNCKWILPILTQFT	MVNLDCIQEVEVKCKWILPILTQFT	1.0	3.0	unscreened	-	1913_1:12887338-12887338 A>C_MVNLDCIQEVEVKCKWILPILTQFT
15:89453137-89453137 G>A	1.0	1913	MELANOMA	-	-	-	-	MFGE8	uc002bng.4,p.P31S|uc002bnh.4,p.P31S|ENST00000268150,p.P31S|NM_005928,p.P31S|NM_001114614,p.P31S|ENST00000558029,p.P31S|ENST00000268151,p.P31S|ENST00000566497,p.P31S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bnh.4	nonsynonymous SNV	exon2	c.C91T	p.P31S	SLLVALDICSKNPCHNGGLCEEISQ	SLLVALDICSKNSCHNGGLCEEISQ	10.0	8.0	unscreened	-	1913_15:89453137-89453137 G>A_SLLVALDICSKNSCHNGGLCEEISQ
8:123963764-123963764 G>A	0.0	1913	MELANOMA	-	-	-	-	ZHX2	NM_014943,p.R5Q|uc022bag.1,p.R5Q|uc003ypk.1,p.R5Q|ENST00000314393,p.R5Q|ENST00000534247,p.R5Q	protein_coding	uc022bag.1	nonsynonymous SNV	exon1	c.G14A	p.R5Q	MASKRKSTTPCMVRTSQ	MASKQKSTTPCMVRTSQ	3.0	8.0	unscreened	-	1913_8:123963764-123963764 G>A_MASKQKSTTPCMVRTSQ
6:124979611-124979611 G>A	0.0	1913	MELANOMA	-	-	-	-	NKAIN2	ENST00000368416,p.G185R|uc003pzn.1,p.G185R	protein_coding, processed_transcript	uc003pzn.1	nonsynonymous SNV	exon4	c.G553A	p.G185R	LFYFCANSVHTNGICG	LFYFCANSVHTNRICG	1.0	7.0	unscreened	-	1913_6:124979611-124979611 G>A_LFYFCANSVHTNRICG
10:135342093-135342093 G>A	1.0	1913	MELANOMA	-	-	-	-	CYP2E1	ENST00000252945,p.E96K|ENST00000463117,p.E96K|uc001lnj.1,p.E96K|NM_000773,p.E96K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001lnj.1	nonsynonymous SNV	exon2	c.G286A	p.E96K	KAVKEALLDYKDEFSGRGDLPAFHA	KAVKEALLDYKDKFSGRGDLPAFHA	4.0	4.0	unscreened	-	1913_10:135342093-135342093 G>A_KAVKEALLDYKDKFSGRGDLPAFHA
2:162627492-162627492 G>A	0.0	1913	MELANOMA	-	-	-	-	SLC4A10	uc002ubx.4,p.E20K|ENST00000421911,p.E20K|ENST00000272716,p.E20K|NM_022058,p.E20K|ENST00000446228,p.E20K|NM_001178015,p.E20K|ENST00000535165,p.E20K|ENST00000415876,p.E20K|uc002uby.4,p.E20K|ENST00000446997,p.E20K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002uby.4	nonsynonymous SNV	exon2	c.G58A	p.E20K	AQMEPLLPTRNDEEAVVDRGGTRSI	AQMEPLLPTRNDKEAVVDRGGTRSI	2.0	8.0	unscreened	-	1913_2:162627492-162627492 G>A_AQMEPLLPTRNDKEAVVDRGGTRSI
17:10404069-10404069 C>T	0.0	1913	MELANOMA	-	-	-	-	MYH1	uc002gmo.3,p.G1247R|NM_005963,p.G1247R|ENST00000226207,p.G1247R	protein_coding	uc002gmo.3	nonsynonymous SNV	exon28	c.G3739A	p.G1247R	LASNMETVSKAKGNLEKMCRALEDQ	LASNMETVSKAKRNLEKMCRALEDQ	1.0	4.0	unscreened	-	1913_17:10404069-10404069 C>T_LASNMETVSKAKRNLEKMCRALEDQ
17:14139294-14139294 C>T	0.0	1913	MELANOMA	-	-	-	-	CDRT15	ENST00000431716,p.R83K|NM_001007530,p.R149K|ENST00000420162,p.R149K|uc010vvu.2,p.R149K	protein_coding	uc010vvu.2	nonsynonymous SNV	exon3	c.G446A	p.R149K	TEVPESIKRRLGRRVPAATPAPRGN	TEVPESIKRRLGKRVPAATPAPRGN	3.0	4.0	unscreened	-	1913_17:14139294-14139294 C>T_TEVPESIKRRLGKRVPAATPAPRGN
10:104180914-104180914 G>A	1.0	1913	MELANOMA	-	-	-	-	FBXL15	uc001kvl.1,p.G97R|ENST00000457067,p.G97R	protein_coding, processed_transcript	uc001kvl.1	nonsynonymous SNV	exon2	c.G289A	p.G97R	RQPMEPPMEPSGGEQEPGAVRFLDL	RQPMEPPMEPSGREQEPGAVRFLDL	6.0	3.0	unscreened	-	1913_10:104180914-104180914 G>A_RQPMEPPMEPSGREQEPGAVRFLDL
6:116442417-116442417 C>T	0.0	1913	MELANOMA	-	-	-	-	COL10A1	uc003pwm.3,p.G288R|ENST00000243222,p.G288R|ENST00000327673,p.G288R|NM_000493,p.G288R	protein_coding	uc003pwm.3	nonsynonymous SNV	exon3	c.G862A	p.G288R	GIPGTKGLPGAPGIAGPPGPPGFGK	GIPGTKGLPGAPRIAGPPGPPGFGK	1.0	8.0	unscreened	-	1913_6:116442417-116442417 C>T_GIPGTKGLPGAPRIAGPPGPPGFGK
10:134909238-134909238 G>A	0.0	1913	MELANOMA	-	-	-	-	GPR123	uc001llw.3,p.G706E|ENST00000607359,p.G706E	protein_coding	uc001llw.3	nonsynonymous SNV	exon11	c.G2117A	p.G706E	VLAGRTRSVASGGKQELSGPLAACI	VLAGRTRSVASGEKQELSGPLAACI	1.0	4.0	unscreened	-	1913_10:134909238-134909238 G>A_VLAGRTRSVASGEKQELSGPLAACI
2:179460456-179460456 C>T	0.0	1913	MELANOMA	-	-	-	-	TTN	NM_003319,p.E10144K|ENST00000342992,p.E16641K|NM_133437,p.E10336K|ENST00000460472,p.E10144K|ENST00000359218,p.E10269K|uc021vsy.2,p.E16641K|uc021vta.2,p.E10269K|ENST00000342175,p.E10336K|NM_133432,p.E10269K|uc031rqc.1,p.E19209K|uc031rqd.1,p.E17568K|ENST00000591111,p.E17568K|uc021vsz.2,p.E10336K|NM_133378,p.E16641K|NM_001267550,p.E19209K|uc021vtb.2,p.E10144K|NM_001256850,p.E17568K|ENST00000589042,p.E19209K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon245	c.G52702A	p.E17568K	TNESCKLTWFSPEDDGGSPITNYVI	TNESCKLTWFSPKDDGGSPITNYVI	2.0	3.0	unscreened	-	1913_2:179460456-179460456 C>T_TNESCKLTWFSPKDDGGSPITNYVI
8:108306240-108306240 C>T	0.0	1913	MELANOMA	-	-	-	-	ANGPT1	ENST00000517746,p.G321E|uc011lhv.2,p.G121E|ENST00000297450,p.G320E|ENST00000520052,p.G120E|uc003ymp.4,p.G120E|uc003ymo.3,p.G320E|uc003ymn.3,p.G321E|NM_001199859,p.G320E|NM_001146,p.G321E|ENST00000520734,p.G121E	retained_intron, protein_coding, processed_transcript	uc011lhv.2	nonsynonymous SNV	exon5	c.G362A	p.G121E	EPKKVFCNMDVNGGGWTVIQHREDG	EPKKVFCNMDVNEGGWTVIQHREDG	1.0	5.0	unscreened	-	1913_8:108306240-108306240 C>T_EPKKVFCNMDVNEGGWTVIQHREDG
17:10304400-10304400 C>T	0.0	1913	MELANOMA	-	-	-	-	MYH8	ENST00000403437,p.E1073K|uc002gmm.2,p.E1073K|NM_002472,p.E1073K	protein_coding	uc002gmm.2	nonsynonymous SNV	exon25	c.G3217A	p.E1073K	DLKLAQESTMDMENDKQQLDEKLEK	DLKLAQESTMDMKNDKQQLDEKLEK	1.0	5.0	unscreened	-	1913_17:10304400-10304400 C>T_DLKLAQESTMDMKNDKQQLDEKLEK
6:35927257-35927257 C>T	0.0	1913	MELANOMA	-	-	-	-	SLC26A8	uc003olm.3,p.D615N|ENST00000355574,p.D615N|NM_052961,p.D615N|NM_001193476,p.D615N|uc003oln.3,p.D615N|NM_138718,p.D510N|uc003olk.3,p.D197N|ENST00000394602,p.D510N|uc003oll.3,p.D510N|ENST00000490799,p.D615N	retained_intron, protein_coding, nonsense_mediated_decay	uc003oln.3	nonsynonymous SNV	exon16	c.G1843A	p.D615N	GGKICRCFCNCDDLEPLPRILYTER	GGKICRCFCNCDNLEPLPRILYTER	1.0	7.0	unscreened	-	1913_6:35927257-35927257 C>T_GGKICRCFCNCDNLEPLPRILYTER
2:188216912-188216912 G>A	0.0	1913	MELANOMA	-	-	-	-	CALCRL	ENST00000392370,p.P353S|NM_001271751,p.P353S|uc002upv.5,p.P353S|NM_005795,p.P353S|uc010frt.4,p.P353S|ENST00000409998,p.P353S|ENST00000410068,p.P353S	retained_intron, protein_coding, processed_transcript	uc010frt.4	nonsynonymous SNV	exon12	c.C1057T	p.P353S	LVPLLGIEFVLIPWRPEGKIAEEVY	LVPLLGIEFVLISWRPEGKIAEEVY	1.0	5.0	unscreened	-	1913_2:188216912-188216912 G>A_LVPLLGIEFVLISWRPEGKIAEEVY
12:113307728-113307728 G>A	0.0	1913	MELANOMA	-	-	-	-	RPH3A	uc010syl.2,p.G227E|NM_014954,p.G223E|uc001ttz.3,p.G227E|ENST00000415485,p.G227E|uc010sym.2,p.G178E|ENST00000447659,p.G178E|NM_001143854,p.G227E|uc009zwe.1,p.G223E|ENST00000548866,p.G178E|ENST00000543106,p.G227E|ENST00000389385,p.G227E|ENST00000551052,p.G223E|ENST00000420983,p.G227E|uc001tty.3,p.G223E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sym.2	nonsynonymous SNV	exon8	c.G533A	p.G178E	KTGPDPASAPGRGNYGPPVRRASEA	KTGPDPASAPGRENYGPPVRRASEA	2.0	8.0	unscreened	-	1913_12:113307728-113307728 G>A_KTGPDPASAPGRENYGPPVRRASEA
3:54919316-54919316 G>A	0.0	1913	MELANOMA	-	-	-	-	CACNA2D3	uc003dhg.1,p.D547N|ENST00000474759,p.D641N|uc010hmv.1,p.D375N|ENST00000415676,p.D641N|ENST00000490478,p.D547N|ENST00000288197,p.D641N|uc003dhf.3,p.D641N|NM_018398,p.D641N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hmv.1	nonsynonymous SNV	exon20	c.G1123A	p.D375N	FRGNVTIEEGLHDLEHPDVSLADEW	FRGNVTIEEGLHNLEHPDVSLADEW	1.0	3.0	unscreened	-	1913_3:54919316-54919316 G>A_FRGNVTIEEGLHNLEHPDVSLADEW
8:2949181-2949181 G>A	0.0	1913	MELANOMA	-	-	-	-	CSMD1	uc011kwj.2,p.S1711F	retained_intron, protein_coding, processed_transcript	uc011kwj.2	nonsynonymous SNV	exon35	c.C5132T	p.S1711F	LQFEGSLPTCEGSSGQSPLLVVLSG	LQFEGSLPTCEGFSGQSPLLVVLSG	1.0	5.0	unscreened	-	1913_8:2949181-2949181 G>A_LQFEGSLPTCEGFSGQSPLLVVLSG
13:24465979-24465979 G>A	0.0	1913	MELANOMA	-	-	-	-	C1QTNF9B,C1QTNF9B-AS1	NM_001135816,p.G87D|NM_001014442,p.G78D|uc001uoy.3,p.G78D|uc009zzx.3,p.G87D	protein_coding, processed_transcript	uc009zzx.3	nonsynonymous SNV	exon4	c.G260A	p.G87D	LGPGFPIGPMGPGKPVGPKGPMLPL	LGPGFPIGPMGPDKPVGPKGPMLPL	4.0	6.0	unscreened	-	1913_13:24465979-24465979 G>A_LGPGFPIGPMGPDKPVGPKGPMLPL
17:10451069-10451069 C>G	0.0	1913	MELANOMA	-	-	-	-	MYH2	ENST00000420805,p.G57R|ENST00000397183,p.G57R|ENST00000245503,p.G57R|ENST00000431502,p.G57R|uc002gmp.4,p.G57R|uc010coj.3,p.G57R|NM_017534,p.G57R|NM_001100112,p.G57R|ENST00000532183,p.G57R|uc010coi.3,p.G57R	protein_coding	uc010coj.3	nonsynonymous SNV	exon3	c.G169C	p.G57R	ESFVKGTIQSREGGKVTVKTEGGAT	ESFVKGTIQSRERGKVTVKTEGGAT	1.0	6.0	unscreened	-	1913_17:10451069-10451069 C>G_ESFVKGTIQSRERGKVTVKTEGGAT
21:47818040-47818040 G>A	1.0	1913	MELANOMA	-	-	-	-	PCNT	ENST00000359568,p.S1520N|NM_006031,p.S1520N|uc002zji.4,p.S1520N|uc002zjj.3,p.S1402N	retained_intron, protein_coding, processed_transcript	uc002zjj.3	nonsynonymous SNV	exon23	c.G4205A	p.S1402N	QAAKPQPWGPRDSQQAPLDGEVELL	QAAKPQPWGPRDNQQAPLDGEVELL	7.0	7.0	unscreened	-	1913_21:47818040-47818040 G>A_QAAKPQPWGPRDNQQAPLDGEVELL
1:34034977-34034977 G>A	0.0	1913	MELANOMA	-	-	-	-	CSMD2	NM_052896,p.L2712F|uc001bxn.1,p.L2712F|ENST00000241312,p.L2712F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxn.1	nonsynonymous SNV	exon53	c.C8134T	p.L2712F	ANGLWSGSEVRCLAGHCGTPEPIVN	ANGLWSGSEVRCFAGHCGTPEPIVN	1.0	3.0	unscreened	-	1913_1:34034977-34034977 G>A_ANGLWSGSEVRCFAGHCGTPEPIVN
7:92763562-92763562 C>T	0.0	1913	MELANOMA	-	-	-	-	SAMD9L	ENST00000318238,p.E575K|uc003umh.1,p.E575K|uc003umj.1,p.E575K|NM_152703,p.E575K|uc003umi.1,p.E575K|uc022ahh.1,p.E575K|ENST00000411955,p.E575K|uc003umk.1,p.E575K|uc010lfd.1,p.E575K|uc010lfc.1,p.E575K|uc010lfb.1,p.E575K|ENST00000437805,p.E575K	protein_coding, processed_transcript	uc022ahh.1	nonsynonymous SNV	exon1	c.G1723A	p.E575K	TFWAFYQALKGMENMLCISVNSHIY	TFWAFYQALKGMKNMLCISVNSHIY	2.0	7.0	unscreened	-	1913_7:92763562-92763562 C>T_TFWAFYQALKGMKNMLCISVNSHIY
14:71209203-71209203 C>T	0.0	1913	MELANOMA	-	-	-	-	MAP3K9	ENST00000381250,p.D478N|uc001xmm.3,p.D478N|NM_001284230,p.D478N|NM_033141,p.D478N|ENST00000555993,p.D478N|uc001xmk.3,p.D172N|uc010ttk.2,p.D215N|uc001xml.3,p.D478N|NM_001284232,p.D172N|ENST00000554752,p.D478N|NM_001284231,p.D215N|ENST00000554146,p.D215N|ENST00000553414,p.D172N	retained_intron, protein_coding	uc010ttk.2	nonsynonymous SNV	exon6	c.G643A	p.D215N	RRREQELAEREIDILERELNIIIHQ	RRREQELAEREINILERELNIIIHQ	1.0	3.0	unscreened	-	1913_14:71209203-71209203 C>T_RRREQELAEREINILERELNIIIHQ
21:10970014-10970014 T>A	0.0	1913	MELANOMA	-	-	-	-	TPTE	uc002yir.1,p.K38N|NM_199260,p.K38N|ENST00000342420,p.K38N	protein_coding, processed_transcript	uc002yir.1	nonsynonymous SNV	exon6	c.A114T	p.K38N	SEFKGATEEAPAKESSKIKKIVHSI	SEFKGATEEAPANESSKIKKIVHSI	1.0	2.0	unscreened	-	1913_21:10970014-10970014 T>A_SEFKGATEEAPANESSKIKKIVHSI
3:73111356-73111356 C>G	1.0	1913	MELANOMA	-	-	-	-	EBLN2	NM_018029,p.R42G|uc003dpj.3,p.R42G|ENST00000533473,p.R42G	protein_coding	uc003dpj.3	nonsynonymous SNV	exon1	c.C124G	p.R42G	RPMILNKIKELSRNQFSTMSHLRKD	RPMILNKIKELSGNQFSTMSHLRKD	4.0	7.0	unscreened	-	1913_3:73111356-73111356 C>G_RPMILNKIKELSGNQFSTMSHLRKD
12:52843849-52843849 C>T	0.0	1913	MELANOMA	-	-	-	-	KRT6B	NM_005555,p.D255N|ENST00000252252,p.D255N|uc001sak.3,p.D255N	protein_coding	uc001sak.3	nonsynonymous SNV	exon3	c.G763A	p.D255N	QDLVEDLKNKYEDEINKRTAAENEF	QDLVEDLKNKYENEINKRTAAENEF	1.0	2.0	unscreened	-	1913_12:52843849-52843849 C>T_QDLVEDLKNKYENEINKRTAAENEF
2:179593452-179593452 G>A	0.0	1913	MELANOMA	-	-	-	-	TTN	ENST00000589042,p.P6401S|uc002umz.1,p.P1818S|uc031rqc.1,p.P6401S|NM_133378,p.P5157S|NM_001267550,p.P6401S|uc031rqd.1,p.P6084S|uc021vsy.2,p.P5157S|ENST00000342992,p.P5157S|NM_001256850,p.P6084S|ENST00000591111,p.P6084S	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon64	c.C18250T	p.P6084S	EKAKSVDVTEKDPMTLECVVAGTPE	EKAKSVDVTEKDSMTLECVVAGTPE	2.0	5.0	unscreened	-	1913_2:179593452-179593452 G>A_EKAKSVDVTEKDSMTLECVVAGTPE
14:33291286-33291286 C>T	1.0	1913	MELANOMA	-	-	ID=COSM697953;OCCURENCE=1(lung)	-	AKAP6	NM_004274,p.P1423S|uc001wrq.3,p.P1423S|ENST00000280979,p.P1423S	retained_intron, protein_coding, processed_transcript	uc001wrq.3	nonsynonymous SNV	exon13	c.C4267T	p.P1423S	QKFTDEGESIKLPNSSQSSISPVGC	QKFTDEGESIKLSNSSQSSISPVGC	5.0	5.0	unscreened	-	1913_14:33291286-33291286 C>T_QKFTDEGESIKLSNSSQSSISPVGC
2:179453325-179453325 C>T	0.0	1913	MELANOMA	-	-	-	-	TTN	NM_133432,p.E12103K|NM_003319,p.E11978K|NM_133437,p.E12170K|ENST00000589042,p.E21043K|uc021vta.2,p.E12103K|uc021vtb.2,p.E11978K|uc021vsy.2,p.E18475K|NM_001267550,p.E21043K|ENST00000342175,p.E12170K|NM_001256850,p.E19402K|ENST00000342992,p.E18475K|ENST00000359218,p.E12103K|NM_133378,p.E18475K|uc031rqc.1,p.E21043K|uc031rqd.1,p.E19402K|uc021vsz.2,p.E12170K|ENST00000460472,p.E11978K|ENST00000591111,p.E19402K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon254	c.G58204A	p.E19402K	DHEYQFRVKAENEIGIGEPSLPSRP	DHEYQFRVKAENKIGIGEPSLPSRP	2.0	4.0	unscreened	-	1913_2:179453325-179453325 C>T_DHEYQFRVKAENKIGIGEPSLPSRP
7:130002288-130002288 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1085527;OCCURENCE=1(endometrium)	-	CPA5	NM_001127441,p.G182R|uc010lmd.1,p.G182R|ENST00000485477,p.G182R|NM_001127442,p.G182R|ENST00000474905,p.G182R|ENST00000431780,p.G182R|NM_080385,p.G182R|uc010lme.1,p.G182R|ENST00000355388,p.G182R|ENST00000466363,p.G182R|ENST00000393213,p.G182R|uc003vpu.1,p.G182R|uc003vpt.2,p.G182R|ENST00000461828,p.G182R|uc003vps.2,p.G182R	retained_intron, protein_coding	uc010lme.1	nonsynonymous SNV	exon7	c.G544A	p.G182R	ENQSILVLKFSTGGSRHPAIWIDTG	ENQSILVLKFSTRGSRHPAIWIDTG	1.0	6.0	unscreened	-	1913_7:130002288-130002288 G>A_ENQSILVLKFSTRGSRHPAIWIDTG
17:73554674-73554674 G>A	0.0	1913	MELANOMA	-	-	-	-	LLGL2	ENST00000580578,p.E113K|uc002joi.3,p.E113K|ENST00000167462,p.E113K|NM_001015002,p.E113K|uc010dgg.2,p.E113K|NM_004524,p.E113K|uc002jog.1,p.E113K|ENST00000583658,p.E114K|ENST00000577200,p.E113K|ENST00000392550,p.E113K|uc002joj.3,p.E102K|ENST00000581713,p.E113K|uc010dgf.1,p.E113K|uc002joh.3,p.E113K|ENST00000578363,p.E113K|NM_001031803,p.E113K|ENST00000375227,p.E113K	retained_intron, protein_coding, nonsense_mediated_decay	uc010dgg.2	nonsynonymous SNV	exon5	c.G337A	p.E113K	SLKVKGGASELQEDESFTLRGPPGA	SLKVKGGASELQKDESFTLRGPPGA	3.0	5.0	unscreened	-	1913_17:73554674-73554674 G>A_SLKVKGGASELQKDESFTLRGPPGA
7:157926490-157926490 C>T	0.0	1913	MELANOMA	-	-	-	-	PTPRN2	NM_130843,p.G479R|uc011kwa.2,p.G502R|uc003wnp.3,p.G462R|uc003wnr.3,p.G441R|ENST00000389418,p.G479R|ENST00000409483,p.G441R|ENST00000389416,p.G462R|NM_002847,p.G479R|uc003wno.3,p.G479R|ENST00000389413,p.G479R|NM_130842,p.G462R|ENST00000404321,p.G502R|uc003wnq.3,p.G479R	protein_coding	uc011kwa.2	nonsynonymous SNV	exon9	c.G1504A	p.G502R	AAAFGELQNQMPGPSKEEQSLPAGA	AAAFGELQNQMPRPSKEEQSLPAGA	1.0	5.0	unscreened	-	1913_7:157926490-157926490 C>T_AAAFGELQNQMPRPSKEEQSLPAGA
1:207648364-207648364 G>A	0.0	1913	MELANOMA	-	-	ID=COSM903127;OCCURENCE=1(skin),1(endometrium)	-	CR2	ENST00000367059,p.R781Q|ENST00000458541,p.R754Q|NM_001006658,p.R840Q|uc001hfv.3,p.R840Q|ENST00000367058,p.R781Q|ENST00000367057,p.R840Q|uc001hfw.3,p.R781Q|uc009xch.3,p.R781Q|NM_001877,p.R781Q	protein_coding, processed_transcript	uc009xch.3	nonsynonymous SNV	exon13	c.G2342A	p.R781Q	HGSWSGPSPQCLRSPPVTRCPNPEV	HGSWSGPSPQCLQSPPVTRCPNPEV	1.0	3.0	unscreened	-	1913_1:207648364-207648364 G>A_HGSWSGPSPQCLQSPPVTRCPNPEV
8:11400833-11400833 G>A	0.0	1913	MELANOMA	-	-	-	-	BLK	uc003wty.3,p.D34N|ENST00000259089,p.D34N|NM_001715,p.D34N	retained_intron, protein_coding, processed_transcript	uc003wty.3	nonsynonymous SNV	exon2	c.G100A	p.D34N	QWSPLKVSAQDKDAPPLPPLVVFNH	QWSPLKVSAQDKNAPPLPPLVVFNH	1.0	4.0	unscreened	-	1913_8:11400833-11400833 G>A_QWSPLKVSAQDKNAPPLPPLVVFNH
X:83129097-83129097 G>A	0.0	1913	MELANOMA	-	-	-	-	CYLC1	NM_021118,p.E461K|uc004eeh.2,p.E460K|uc004eei.2,p.E461K|ENST00000329312,p.E461K	protein_coding	uc004eei.2	nonsynonymous SNV	exon4	c.G1381A	p.E461K	EPKGDSKKGKKDEKKGKKDSKKDDK	EPKGDSKKGKKDKKKGKKDSKKDDK	1.0	9.0	unscreened	-	1913_X:83129097-83129097 G>A_EPKGDSKKGKKDKKKGKKDSKKDDK
2:141264383-141264383 C>T	0.0	1913	MELANOMA	-	-	ID=COSM570149;OCCURENCE=1(lung)	1	LRP1B	ENST00000389484,p.D2835N|NM_018557,p.D2835N|uc002tvj.1,p.D2835N	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon53	c.G8503A	p.D2835N	VCDHDDDCGDGSDESPQCGYRQCGT	VCDHDDDCGDGSNESPQCGYRQCGT	3.0	6.0	unscreened	-	1913_2:141264383-141264383 C>T_VCDHDDDCGDGSNESPQCGYRQCGT
1:205904946-205904946 C>T	0.0	1913	MELANOMA	-	-	ID=COSM425136,COSM425137;OCCURENCE=1(breast)	-	SLC26A9	ENST00000367134,p.M1I|uc001hdp.3,p.M1I|uc001hdq.3,p.M1I|ENST00000367135,p.M1I|NM_134325,p.M1I|NM_052934,p.M1I|ENST00000340781,p.M1I	retained_intron, protein_coding	uc001hdq.3	nonsynonymous SNV	exon2	c.G3A	p.M1I	MSQPRPRYVVDRA	ISQPRPRYVVDRA	1.0	2.0	unscreened	-	1913_1:205904946-205904946 C>T_ISQPRPRYVVDRA
12:14778781-14778781 C>T	0.0	1913	MELANOMA	-	-	ID=COSM3811580;OCCURENCE=1(breast)	-	GUCY2C	ENST00000261170,p.R773Q|NM_004963,p.R773Q|uc001rcd.3,p.R773Q	retained_intron, protein_coding	uc001rcd.3	nonsynonymous SNV	exon21	c.G2318A	p.R773Q	MDTLIRRLQLYSRNLEHLVEERTQL	MDTLIRRLQLYSQNLEHLVEERTQL	1.0	6.0	unscreened	-	1913_12:14778781-14778781 C>T_MDTLIRRLQLYSQNLEHLVEERTQL
2:95951417-95951417 G>A	0.0	1913	MELANOMA	-	-	-	-	PROM2	NM_001165978,p.E636K|ENST00000317620,p.E636K|ENST00000403131,p.E636K|uc002suk.3,p.E636K|NM_144707,p.E636K|uc002sui.3,p.E636K|uc002suj.3,p.E290K|uc002suh.2,p.E636K|NM_001165977,p.E636K|ENST00000317668,p.E636K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002suk.3	nonsynonymous SNV	exon16	c.G1906A	p.E636K	VQIQRPVVKTSMEQLAQELQGLAQA	VQIQRPVVKTSMKQLAQELQGLAQA	2.0	7.0	unscreened	-	1913_2:95951417-95951417 G>A_VQIQRPVVKTSMKQLAQELQGLAQA
2:95951417-95951417 G>A	0.0	1913	MELANOMA	-	-	-	-	PROM2	ENST00000542147,p.E587K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000542147	nonsynonymous SNV	exon15	c.G1759A	p.E587K	NQIQRPVVKTSMEQLAQELQGLAQA	NQIQRPVVKTSMKQLAQELQGLAQA	2.0	7.0	unscreened	-	1913_2:95951417-95951417 G>A_NQIQRPVVKTSMKQLAQELQGLAQA
19:50161589-50161589 C>T	1.0	1913	MELANOMA	-	-	-	-	SCAF1	NM_021228,p.P1291L|ENST00000360565,p.P1291L|uc002poq.3,p.P1291L	protein_coding	uc002poq.3	nonsynonymous SNV	exon11	c.C3872T	p.P1291L	KHGRKPGDPPGPPRPPKEPGPPDKG	KHGRKPGDPPGPLRPPKEPGPPDKG	8.0	4.0	unscreened	-	1913_19:50161589-50161589 C>T_KHGRKPGDPPGPLRPPKEPGPPDKG
19:8130997-8130997 C>T	0.0	1913	MELANOMA	-	-	ID=COSM440665;OCCURENCE=1(breast)	-	FBN3	NM_032447,p.E2746K|uc002mjf.3,p.E2746K|ENST00000270509,p.E2746K|ENST00000601739,p.E2746K|ENST00000600128,p.E2746K|uc002mje.3,p.E542K	retained_intron, protein_coding	uc002mjf.3	nonsynonymous SNV	exon63	c.G8236A	p.E2746K	EGRIRYVIVRGNEQGFFRMHHLRGV	EGRIRYVIVRGNKQGFFRMHHLRGV	1.0	7.0	unscreened	-	1913_19:8130997-8130997 C>T_EGRIRYVIVRGNKQGFFRMHHLRGV
9:113308512-113308512 C>T	0.0	1913	MELANOMA	-	-	-	-	SVEP1	uc010mtz.3,p.E283K|uc004beu.2,p.E283K|ENST00000401783,p.E283K|ENST00000374461,p.E260K|ENST00000302728,p.E283K|uc010mua.1,p.E283K|NM_153366,p.E283K|ENST00000374469,p.E260K	protein_coding, processed_transcript	uc010mua.1	nonsynonymous SNV	exon3	c.G847A	p.E283K	QDDMVHCSYLCDEGKDCCDRMGSCK	QDDMVHCSYLCDKGKDCCDRMGSCK	1.0	7.0	unscreened	-	1913_9:113308512-113308512 C>T_QDDMVHCSYLCDKGKDCCDRMGSCK
14:63174846-63174846 C>T	0.0	1913	MELANOMA	-	-	-	-	KCNH5	uc001xfx.3,p.E783K|NM_139318,p.E783K|ENST00000322893,p.E783K	protein_coding	uc001xfx.3	nonsynonymous SNV	exon11	c.G2347A	p.E783K	SESLKQNNRDAMELKPNGGADQKCL	SESLKQNNRDAMKLKPNGGADQKCL	1.0	6.0	unscreened	-	1913_14:63174846-63174846 C>T_SESLKQNNRDAMKLKPNGGADQKCL
16:20451741-20451741 G>A	0.0	1913	MELANOMA	-	-	-	-	ACSM5	uc002dhe.3,p.G578R|ENST00000331849,p.G578R|NM_017888,p.G578R	retained_intron, protein_coding, nonsense_mediated_decay	uc002dhe.3	nonsynonymous SNV	exon14	c.G1732A	p.G578R	KIQRSKLRSQEWGK	KIQRSKLRSQEWRK	1.0	8.0	unscreened	-	1913_16:20451741-20451741 G>A_KIQRSKLRSQEWRK
14:81743785-81743785 C>T	0.0	1913	MELANOMA	-	-	-	-	STON2	uc001xvk.2,p.E624K|NM_033104,p.E624K|NM_001256430,p.E624K|uc010tvu.3,p.E624K|ENST00000555447,p.E624K|uc010tvt.3,p.E421K|ENST00000267540,p.E624K	retained_intron, protein_coding, processed_transcript	uc010tvu.3	nonsynonymous SNV	exon5	c.G1870A	p.E624K	RLGLNDILVKGNEIVLRQDIMPTTT	RLGLNDILVKGNKIVLRQDIMPTTT	2.0	7.0	unscreened	-	1913_14:81743785-81743785 C>T_RLGLNDILVKGNKIVLRQDIMPTTT
6:64423326-64423326 C>T	1.0	1913	MELANOMA	-	-	-	-	PHF3	ENST00000393387,p.R1948C|uc003pep.1,p.R1948C|NM_015153,p.R1948C|uc011dxs.1,p.R1217C|uc003pen.2,p.R1860C|NM_001290259,p.R1860C|ENST00000262043,p.R1948C	protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxs.1	nonsynonymous SNV	exon14	c.C3649T	p.R1217C	EKEWEQESERHRRRDRSQDKDRDRK	EKEWEQESERHRCRDRSQDKDRDRK	7.0	3.0	unscreened	-	1913_6:64423326-64423326 C>T_EKEWEQESERHRCRDRSQDKDRDRK
19:4523719-4523719 G>A	0.0	1913	MELANOMA	-	-	-	-	PLIN5	NM_001013706,p.P405S|uc002mas.3,p.P405S|ENST00000381848,p.P405S	retained_intron, protein_coding	uc002mas.3	nonsynonymous SNV	exon8	c.C1213T	p.P405S	ADLVDEVIGGPDPRWAHLDWPAQQR	ADLVDEVIGGPDSRWAHLDWPAQQR	1.0	3.0	unscreened	-	1913_19:4523719-4523719 G>A_ADLVDEVIGGPDSRWAHLDWPAQQR
8:24775965-24775965 G>A	0.0	1913	MELANOMA	-	-	-	-	NEFM	ENST00000221166,p.G866E|NM_001105541,p.G490E|ENST00000518131,p.G648E|ENST00000437366,p.G827E|uc011lac.1,p.G648E|uc010lue.3,p.G490E|NM_005382,p.G866E|ENST00000433454,p.G490E|uc003xed.4,p.G866E	protein_coding, processed_transcript	uc011lac.1	nonsynonymous SNV	exon4	c.G1943A	p.G648E	VTKTVEKITSEGGDGATKYITKSVT	VTKTVEKITSEGEDGATKYITKSVT	1.0	6.0	unscreened	-	1913_8:24775965-24775965 G>A_VTKTVEKITSEGEDGATKYITKSVT
10:75842294-75842294 C>T	1.0	1913	MELANOMA	-	-	-	-	VCL	NM_003373,p.A289V|uc009xrr.3,p.A38V|uc001jwe.3,p.A289V|NM_014000,p.A289V|ENST00000372755,p.A289V|ENST00000211998,p.A289V|uc001jwd.3,p.A289V|uc010qky.1,p.A196V	protein_coding, processed_transcript	uc010qky.1	nonsynonymous SNV	exon6	c.C587T	p.A196V	LNQAKGWLRDPSASPGDAGEQAIRQ	LNQAKGWLRDPSVSPGDAGEQAIRQ	8.0	4.0	unscreened	-	1913_10:75842294-75842294 C>T_LNQAKGWLRDPSVSPGDAGEQAIRQ
12:111652053-111652053 G>A	0.0	1913	MELANOMA	-	-	-	-	CUX2	NM_015267,p.S38N|uc001tsa.2,p.S38N|ENST00000261726,p.S38N|uc001tsb.2,p.S93N|ENST00000397643,p.S98N	protein_coding, processed_transcript	uc001tsb.2	nonsynonymous SNV	exon3	c.G278A	p.S93N	SVASELSARQEESEHSHKHLIELRR	SVASELSARQEENEHSHKHLIELRR	1.0	8.0	unscreened	-	1913_12:111652053-111652053 G>A_SVASELSARQEENEHSHKHLIELRR
6:26199434-26199434 G>A	1.0	1913	MELANOMA	-	-	-	-	HIST1H2AD	NM_021065,p.A13V|uc003ngw.4,p.A13V|ENST00000341023,p.A13V	protein_coding	uc003ngw.4	nonsynonymous SNV	exon1	c.C38T	p.A13V	MSGRGKQGGKARAKAKTRSSRAGLQ	MSGRGKQGGKARVKAKTRSSRAGLQ	4.0	7.0	unscreened	-	1913_6:26199434-26199434 G>A_MSGRGKQGGKARVKAKTRSSRAGLQ
1:34164413-34164413 C>T	0.0	1913	MELANOMA	-	-	-	-	CSMD2	ENST00000241312,p.E1249K|uc001bxo.1,p.E162K|ENST00000373380,p.E162K|uc001bxm.1,p.E1289K|NM_052896,p.E1249K|ENST00000373381,p.E1289K|NM_001281956,p.E1289K|uc001bxn.1,p.E1249K	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxo.1	nonsynonymous SNV	exon3	c.G484A	p.E162K	SCDPGYSLRGSEELLCLSGERRTWD	SCDPGYSLRGSEKLLCLSGERRTWD	1.0	3.0	unscreened	-	1913_1:34164413-34164413 C>T_SCDPGYSLRGSEKLLCLSGERRTWD
6:29637991-29637991 A>T	0.0	1913	MELANOMA	-	-	-	-	MOG	NM_001008228,p.K211N|uc003nni.3,p.K211N|uc011dlu.2,p.K95N|NM_001170418,p.K95N|ENST00000396704,p.K211N|ENST00000490427,p.K95N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dlu.2	nonsynonymous SNV	exon5	c.A285T	p.K95N	SFGVLGPQVKEPKKTGQFLEELRNP	SFGVLGPQVKEPNKTGQFLEELRNP	1.0	7.0	unscreened	-	1913_6:29637991-29637991 A>T_SFGVLGPQVKEPNKTGQFLEELRNP
19:9062494-9062494 C>T	0.0	1913	MELANOMA	-	-	-	2	MUC16	NM_024690,p.G8318R|uc002mkp.3,p.G8318R|ENST00000397910,p.G8318R	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.G24952A	p.G8318R	ITTDRMGISREPGTSSTSNLSSTSH	ITTDRMGISREPRTSSTSNLSSTSH	1.0	8.0	unscreened	-	1913_19:9062494-9062494 C>T_ITTDRMGISREPRTSSTSNLSSTSH
7:47968936-47968936 C>T	0.0	1913	MELANOMA	-	-	-	-	PKD1L1	uc003tny.2,p.G309R|ENST00000289672,p.G309R|NM_138295,p.G309R	retained_intron, protein_coding, processed_transcript	uc003tny.2	nonsynonymous SNV	exon7	c.G925A	p.G309R	SLEVEARAPPNLGFRVHMASGEALC	SLEVEARAPPNLRFRVHMASGEALC	4.0	5.0	unscreened	-	1913_7:47968936-47968936 C>T_SLEVEARAPPNLRFRVHMASGEALC
19:55378062-55378062 C>T	0.0	1913	MELANOMA	-	-	-	-	KIR3DL2	uc002qhl.4,p.S415F|ENST00000270442,p.S398F|uc002qho.4,p.S415F|ENST00000326321,p.S415F|ENST00000402254,p.S415F|uc010esh.3,p.S398F|NM_006737,p.S415F|NM_001242867,p.S398F	protein_coding	uc010esh.3	nonsynonymous SNV	exon8	c.C1193T	p.S398F	HCVFIQRKISRPSQRPKTPLTDTSV	HCVFIQRKISRPFQRPKTPLTDTSV	1.0	7.0	unscreened	-	1913_19:55378062-55378062 C>T_HCVFIQRKISRPFQRPKTPLTDTSV
1:163042630-163042630 C>T	0.0	1913	MELANOMA	-	-	-	-	RGS4	NM_001102445,p.S159L|ENST00000531057,p.S62L|ENST00000367906,p.S44L|ENST00000528938,p.S44L|ENST00000421743,p.S159L|ENST00000367909,p.S62L|uc009wuy.3,p.S62L|uc001gcl.4,p.S159L|uc009wva.3,p.S44L|ENST00000527809,p.S44L|NM_001113380,p.S44L|NM_005613,p.S62L	protein_coding, processed_transcript	uc009wva.3	nonsynonymous SNV	exon3	c.C131T	p.S44L	RVSQEEVKKWAESLENLISHECGLA	RVSQEEVKKWAELLENLISHECGLA	1.0	4.0	unscreened	-	1913_1:163042630-163042630 C>T_RVSQEEVKKWAELLENLISHECGLA
19:9058072-9058072 C>T	0.0	1913	MELANOMA	-	-	-	2	MUC16	NM_024690,p.E9792K|uc002mkp.3,p.E9792K|ENST00000397910,p.E9792K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.G29374A	p.E9792K	TSSSPNLSSTSVEIPATSEIMTDTE	TSSSPNLSSTSVKIPATSEIMTDTE	1.0	7.0	unscreened	-	1913_19:9058072-9058072 C>T_TSSSPNLSSTSVKIPATSEIMTDTE
15:74888059-74888059 C>T	1.0	1913	MELANOMA	-	-	-	-	ARID3B	uc002aye.3,p.P544S|NM_006465,p.P543S|uc002ayd.3,p.P543S|ENST00000346246,p.P543S	retained_intron, protein_coding, processed_transcript	uc002aye.3	nonsynonymous SNV	exon9	c.C1630T	p.P544S	ASSSSSSHCSPSPTSSRGTPSAEPS	ASSSSSSHCSPSSTSSRGTPSAEPS	5.0	2.0	unscreened	-	1913_15:74888059-74888059 C>T_ASSSSSSHCSPSSTSSRGTPSAEPS
5:140348900-140348900 C>T	0.0	1913	MELANOMA	-	-	-	-	PCDHAC2	ENST00000289269,p.A850V|uc003lii.3,p.A850V|NM_018899,p.A850V	protein_coding	uc003lii.3	nonsynonymous SNV	exon1	c.C2549T	p.A850V	QNAGNLIILKNEAVSQNEPRQPNPD	QNAGNLIILKNEVVSQNEPRQPNPD	1.0	3.0	unscreened	-	1913_5:140348900-140348900 C>T_QNAGNLIILKNEVVSQNEPRQPNPD
1:22965376-22965376 G>A	0.0	1913	MELANOMA	-	-	-	-	C1QA	ENST00000374642,p.E72K|ENST00000402322,p.E72K|NM_015991,p.E72K|ENST00000438241,p.E72K|uc001bfy.3,p.E72K	protein_coding	uc001bfy.3	nonsynonymous SNV	exon3	c.G214A	p.E72K	RTGIQGLKGDQGEPGPSGNPGKVGY	RTGIQGLKGDQGKPGPSGNPGKVGY	2.0	2.0	unscreened	-	1913_1:22965376-22965376 G>A_RTGIQGLKGDQGKPGPSGNPGKVGY
2:179641366-179641366 C>T	0.0	1913	MELANOMA	-	-	-	-	TTN	uc021vsy.2,p.G1742E|uc002unb.3,p.G1742E|NM_001256850,p.G1742E|ENST00000342175,p.G1696E|NM_133378,p.G1742E|uc031rqc.1,p.G1742E|ENST00000460472,p.G1696E|uc021vtb.2,p.G1696E|ENST00000589042,p.G1742E|NM_133379,p.G1742E|uc031rqd.1,p.G1742E|NM_003319,p.G1696E|NM_133437,p.G1696E|NM_133432,p.G1696E|ENST00000359218,p.G1696E|NM_001267550,p.G1742E|ENST00000591111,p.G1742E|ENST00000342992,p.G1742E|ENST00000360870,p.G1742E|uc021vta.2,p.G1696E|uc021vsz.2,p.G1696E	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon28	c.G5225A	p.G1742E	GDPTMVVEWLHDGKPLEAANRLRMI	GDPTMVVEWLHDEKPLEAANRLRMI	2.0	6.0	unscreened	-	1913_2:179641366-179641366 C>T_GDPTMVVEWLHDEKPLEAANRLRMI
21:45959555-45959555 G>A	0.0	1913	MELANOMA	-	-	-	-	KRTAP10-1	uc002zfh.1,p.S160F|ENST00000400375,p.S160F|NM_198691,p.S160F	protein_coding	uc002zfh.1	nonsynonymous SNV	exon1	c.C479T	p.S160F	KPVCYVPTCSEDSSSCCQQSSCHPA	KPVCYVPTCSEDFSSCCQQSSCHPA	1.0	3.0	unscreened	-	1913_21:45959555-45959555 G>A_KPVCYVPTCSEDFSSCCQQSSCHPA
12:111729264-111729264 G>A	0.0	1913	MELANOMA	-	-	-	-	CUX2	NM_015267,p.R115K|ENST00000397643,p.R175K|ENST00000261726,p.R115K|uc001tsa.2,p.R115K|uc001tsb.2,p.R170K	protein_coding, processed_transcript	uc001tsb.2	nonsynonymous SNV	exon6	c.G509A	p.R170K	VPVFEAARSLDDRLQPPSFDPSGQP	VPVFEAARSLDDKLQPPSFDPSGQP	1.0	7.0	unscreened	-	1913_12:111729264-111729264 G>A_VPVFEAARSLDDKLQPPSFDPSGQP
2:142238088-142238088 C>T	0.0	1913	MELANOMA	-	-	-	1	LRP1B	uc002tvj.1,p.E74K|NM_018557,p.E74K|ENST00000389484,p.E74K	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon3	c.G220A	p.E74K	SDESLDTCPEEVEIKCPLNHIACLG	SDESLDTCPEEVKIKCPLNHIACLG	3.0	5.0	unscreened	-	1913_2:142238088-142238088 C>T_SDESLDTCPEEVKIKCPLNHIACLG
7:94037501-94037501 C>T	0.0	1913	MELANOMA	-	-	-	-	COL1A2	ENST00000297268,p.R216C|uc003ung.1,p.R216C|NM_000089,p.R216C	retained_intron, protein_coding	uc003ung.1	nonsynonymous SNV	exon14	c.C646T	p.R216C	PGENGTPGQTGARGLPGERGRVGAP	PGENGTPGQTGACGLPGERGRVGAP	4.0	6.0	unscreened	-	1913_7:94037501-94037501 C>T_PGENGTPGQTGACGLPGERGRVGAP
6:29637991-29637991 A>T	0.0	1913	MELANOMA	-	-	-	-	MOG	uc003nng.3,p.K211N|NM_206811,p.K211N|ENST00000494692,p.K211N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003nng.3	nonsynonymous SNV	exon6	c.A633T	p.K211N	SFGVLGPQVKEPKKTGQFLEELLFH	SFGVLGPQVKEPNKTGQFLEELLFH	1.0	7.0	unscreened	-	1913_6:29637991-29637991 A>T_SFGVLGPQVKEPNKTGQFLEELLFH
3:51251660-51251660 C>T	0.0	1913	MELANOMA	-	-	ID=COSM228041;OCCURENCE=1(skin)	-	DOCK3	ENST00000266037,p.P412S|uc011bds.2,p.P412S|NM_004947,p.P412S	protein_coding	uc011bds.2	nonsynonymous SNV	exon14	c.C1234T	p.P412S	NRGLAITRKLGFPDVIMPGDIRNDL	NRGLAITRKLGFSDVIMPGDIRNDL	1.0	3.0	unscreened	-	1913_3:51251660-51251660 C>T_NRGLAITRKLGFSDVIMPGDIRNDL
19:56170671-56170671 C>T	1.0	1913	MELANOMA	-	-	-	-	U2AF2	uc002qlt.3,p.R49W|ENST00000308924,p.R49W|ENST00000450554,p.R49W|NM_007279,p.R49W|uc002qlu.3,p.R49W|NM_001012478,p.R49W	retained_intron, protein_coding, nonsense_mediated_decay	uc002qlu.3	nonsynonymous SNV	exon2	c.C145T	p.R49W	RKRRSRSRDRRNRDQRSASRDRRRR	RKRRSRSRDRRNWDQRSASRDRRRR	10.0	7.0	unscreened	-	1913_19:56170671-56170671 C>T_RKRRSRSRDRRNWDQRSASRDRRRR
16:68405276-68405276 C>T	0.0	1913	MELANOMA	-	-	-	-	SMPD3	uc002ewa.3,p.G270E|uc010cfe.3,p.G270E|ENST00000563226,p.G270E|NM_018667,p.G270E|ENST00000219334,p.G270E|ENST00000568373,p.G270E|uc010vlh.2,p.G270E	retained_intron, protein_coding, processed_transcript	uc010vlh.2	nonsynonymous SNV	exon1	c.G809A	p.G270E	ADDPVPGGQARNGAGGGPRGQTPNH	ADDPVPGGQARNEAGGGPRGQTPNH	3.0	2.0	unscreened	-	1913_16:68405276-68405276 C>T_ADDPVPGGQARNEAGGGPRGQTPNH
3:151598851-151598851 G>A	0.0	1913	MELANOMA	-	-	-	-	SUCNR1	ENST00000362032,p.D174N|NM_033050,p.D174N|uc003ezf.2,p.D174N	protein_coding	uc003ezf.2	nonsynonymous SNV	exon3	c.G520A	p.D174N	NPVITDNGTTCNDFASSGDPNYNLI	NPVITDNGTTCNNFASSGDPNYNLI	1.0	8.0	unscreened	-	1913_3:151598851-151598851 G>A_NPVITDNGTTCNNFASSGDPNYNLI
1:163042630-163042630 C>T	0.0	1913	MELANOMA	-	-	-	-	RGS4	uc009wuz.3,p.S62L|ENST00000367908,p.S62L|NM_001113381,p.S62L	protein_coding, processed_transcript	uc009wuz.3	nonsynonymous SNV	exon3	c.C185T	p.S62L	RVSQEEVKKWAESLENLISHECEPG	RVSQEEVKKWAELLENLISHECEPG	1.0	4.0	unscreened	-	1913_1:163042630-163042630 C>T_RVSQEEVKKWAELLENLISHECEPG
1:161021334-161021334 C>T	0.0	1913	MELANOMA	-	-	-	-	ARHGAP30	NM_001287602,p.R220Q|uc001fxn.1,p.R243Q|ENST00000368013,p.R397Q|uc001fxl.3,p.R397Q|uc009wtx.3,p.R70Q|uc001fxk.3,p.R397Q|NM_181720,p.R397Q|NM_001025598,p.R397Q|ENST00000368016,p.R397Q|ENST00000368015,p.R220Q|NM_001287600,p.R249Q|uc001fxm.3,p.R243Q	retained_intron, protein_coding, nonsense_mediated_decay	uc009wtx.3	nonsynonymous SNV	exon8	c.G209A	p.R70Q	EPGTPRAGRSAIRAGGSSRAERCAG	EPGTPRAGRSAIQAGGSSRAERCAG	4.0	8.0	unscreened	-	1913_1:161021334-161021334 C>T_EPGTPRAGRSAIQAGGSSRAERCAG
12:123738301-123738301 A>-	1.0	1913	MELANOMA	-	-	-	-	C12orf65	NM_152269,p.E27fs|ENST00000546132,p.E27fs|NM_001143905,p.E27fs|ENST00000366329,p.E27fs|uc001uen.3,p.E27fs|ENST00000253233,p.E27fs|ENST00000543139,p.E27fs|ENST00000536130,p.E27fs|uc021rft.1,p.E27fs|uc010tan.2,p.E27fs|ENST00000429587,p.E27fs|NM_001194995,p.E27fs	retained_intron, protein_coding	uc021rft.1	frameshift deletion	exon2	c.80delA	p.E27fs	RICPAPWGLRLWEKLTLLSPGIAVT	RICPAPWGLRLWGS	8.0	8.0	unscreened	-	1913_12:123738301-123738301 A>-_RICPAPWGLRLWGS
2:133489561-133489561 C>T	0.0	1913	MELANOMA	-	-	-	-	NCKAP5	uc002ttp.3,p.G1731E|NM_207481,p.G412E|ENST00000317721,p.G1731E|ENST00000409213,p.G412E|ENST00000405974,p.G412E|uc002ttq.3,p.G412E|ENST00000409261,p.G1731E|NM_207363,p.G1731E	protein_coding, processed_transcript	uc002ttq.3	nonsynonymous SNV	exon15	c.G1235A	p.G412E	DSGIGTFPLPDSGNRSTGRYLCQPD	DSGIGTFPLPDSENRSTGRYLCQPD	1.0	5.0	unscreened	-	1913_2:133489561-133489561 C>T_DSGIGTFPLPDSENRSTGRYLCQPD
12:10467363-10467363 C>T	0.0	1913	MELANOMA	-	-	-	-	KLRD1	NM_001114396,p.R171C|ENST00000543777,p.R150C|uc001qxy.4,p.R140C|ENST00000381908,p.R172C|uc001qxx.4,p.R171C|uc001qxz.4,p.R172C|uc009zhh.3,p.R150C|uc001qxw.4,p.R171C|ENST00000336164,p.R171C|NM_002262,p.R171C|ENST00000350274,p.R140C|NM_007334,p.R140C|ENST00000381907,p.R171C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zhh.3	nonsynonymous SNV	exon5	c.C448T	p.R150C	GNALDESCEDKNRYICKQQLI	GNALDESCEDKNCYICKQQLI	1.0	3.0	unscreened	-	1913_12:10467363-10467363 C>T_GNALDESCEDKNCYICKQQLI
2:131414620-131414620 G>A	0.0	1913	MELANOMA	-	-	-	-	POTEJ	NM_001277083,p.E763K|ENST00000409602,p.E763K|uc021vor.2,p.E763K	protein_coding	uc021vor.2	nonsynonymous SNV	exon15	c.G2287A	p.E763K	HTFYNELRVAPEEHPILLTEAPLNP	HTFYNELRVAPEKHPILLTEAPLNP	1.0	4.0	unscreened	-	1913_2:131414620-131414620 G>A_HTFYNELRVAPEKHPILLTEAPLNP
14:24846879-24846879 C>T	1.0	1913	MELANOMA	-	-	ID=COSM3814643,COSM3814642;OCCURENCE=1(breast)	-	NFATC4	uc010top.2,p.P925S|NM_001198967,p.P848S|uc010tov.2,p.P773S|ENST00000555453,p.P881S|uc010toq.2,p.P817S|uc001wpc.3,p.P893S|NM_001198966,p.P823S|ENST00000556169,p.P773S|uc010tor.2,p.P785S|uc001wpd.3,p.P428S|ENST00000554473,p.P320S|ENST00000554661,p.P715S|ENST00000554966,p.P798S|ENST00000557767,p.P73S|ENST00000555802,p.P181S|uc010tou.2,p.P823S|ENST00000554591,p.P848S|NM_001198965,p.P785S|uc010ton.2,p.P906S|uc010toy.2,p.P320S|ENST00000250373,p.P893S|uc010too.2,p.P798S|uc010tow.2,p.P715S|uc010tos.2,p.P823S|ENST00000556759,p.P428S|uc010tol.2,p.P956S|ENST00000553469,p.P817S|uc010alr.3,p.P848S|ENST00000556279,p.P925S|ENST00000553879,p.P823S|uc010tpa.2,p.P181S|ENST00000555590,p.P906S|ENST00000554050,p.P785S|uc010tot.2,p.P881S|ENST00000554344,p.P823S|NM_004554,p.P893S	retained_intron, protein_coding, processed_transcript	uc010tpa.2	nonsynonymous SNV	exon5	c.C541T	p.P181S	VSEIIGRDLSGFPAPPGEEPPA	VSEIIGRDLSGFSAPPGEEPPA	9.0	7.0	unscreened	-	1913_14:24846879-24846879 C>T_VSEIIGRDLSGFSAPPGEEPPA
7:151478487-151478487 A>G	0.0	1913	MELANOMA	-	-	-	-	PRKAG2	ENST00000392801,p.S29P|uc003wkm.1,p.S73P|NM_001040633,p.S29P|NM_016203,p.S73P|uc003wkk.3,p.S73P|ENST00000287878,p.S73P|uc003wkj.3,p.S29P|ENST00000488258,p.S73P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003wkm.1	nonsynonymous SNV	exon3	c.T217C	p.S73P	RKVDSPFGPGSPSKGFFSRGPQPRP	RKVDSPFGPGSPPKGFFSRGPQPRP	3.0	7.0	unscreened	-	1913_7:151478487-151478487 A>G_RKVDSPFGPGSPPKGFFSRGPQPRP
19:19741289-19741289 C>T	1.0	1913	MELANOMA	-	-	-	-	GMIP	ENST00000587238,p.G818R|uc002nnd.3,p.G844R|ENST00000445806,p.G815R|uc010xrc.2,p.G815R|uc010xrb.2,p.G818R|NM_001288998,p.G815R|NM_016573,p.G844R|NM_001288999,p.G818R|ENST00000203556,p.G844R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xrc.2	nonsynonymous SNV	exon19	c.G2443A	p.G815R	QREDVAEDTKDGGGEVSSQGPEDSL	QREDVAEDTKDGRGEVSSQGPEDSL	6.0	2.0	unscreened	-	1913_19:19741289-19741289 C>T_QREDVAEDTKDGRGEVSSQGPEDSL
2:238249461-238249461 C>T	0.0	1913	MELANOMA	-	-	-	-	COL6A3	ENST00000346358,p.D2500N|NM_004369,p.D2700N|ENST00000353578,p.D2494N|uc002vwl.2,p.D2700N|uc002vwo.2,p.D2494N|NM_057166,p.D2093N|ENST00000472056,p.D2093N|ENST00000409809,p.D2494N|ENST00000295550,p.D2700N|NM_057167,p.D2494N|uc002vwj.2,p.D81N|ENST00000347401,p.D2499N|uc010znj.1,p.D2093N	retained_intron, protein_coding, processed_transcript	uc010znj.1	nonsynonymous SNV	exon35	c.G6277A	p.D2093N	SLTDYGSKEKLVDFLSRGMTQLQGT	SLTDYGSKEKLVNFLSRGMTQLQGT	1.0	6.0	unscreened	-	1913_2:238249461-238249461 C>T_SLTDYGSKEKLVNFLSRGMTQLQGT
5:79031678-79031678 G>A	0.0	1913	MELANOMA	-	-	-	-	CMYA5	NM_153610,p.E2364K|uc003kgc.3,p.E2364K|ENST00000446378,p.E2364K	retained_intron, protein_coding, processed_transcript	uc003kgc.3	nonsynonymous SNV	exon2	c.G7090A	p.E2364K	APPSKWNISIFKEEPRSDQKQKSLL	APPSKWNISIFKKEPRSDQKQKSLL	4.0	8.0	unscreened	-	1913_5:79031678-79031678 G>A_APPSKWNISIFKKEPRSDQKQKSLL
11:71238552-71238552 C>T	0.0	1913	MELANOMA	-	-	-	-	KRTAP5-7	ENST00000398536,p.S69F|uc001oqq.1,p.S69F|NM_001012503,p.S69F	protein_coding	uc001oqq.1	nonsynonymous SNV	exon1	c.C206T	p.S69F	CGSCGGSKGGCGSCGGSKGGCGSCG	CGSCGGSKGGCGFCGGSKGGCGSCG	1.0	1.0	unscreened	-	1913_11:71238552-71238552 C>T_CGSCGGSKGGCGFCGGSKGGCGSCG
12:104077074-104077074 C>T	0.0	1913	MELANOMA	-	-	-	-	STAB2	NM_017564,p.P966L|uc001tjw.3,p.P966L|ENST00000388887,p.P966L	retained_intron, protein_coding, nonsense_mediated_decay	uc001tjw.3	nonsynonymous SNV	exon26	c.C2897T	p.P966L	ITSCLEQTGKCHPLASCQSTSSGVW	ITSCLEQTGKCHLLASCQSTSSGVW	2.0	8.0	unscreened	-	1913_12:104077074-104077074 C>T_ITSCLEQTGKCHLLASCQSTSSGVW
3:183014893-183014893 C>G	0.0	1913	MELANOMA	-	-	-	-	MCF2L2	uc003flj.1,p.Q456H|ENST00000328913,p.Q456H|uc003fli.1,p.Q456H|ENST00000473233,p.Q456H|ENST00000414362,p.Q456H|ENST00000447025,p.Q456H|NM_015078,p.Q456H	retained_intron, protein_coding, processed_transcript	uc003flj.1	nonsynonymous SNV	exon12	c.G1368C	p.Q456H	IYLLASQAVDKCQSREGVDIALNDI	IYLLASQAVDKCHSREGVDIALNDI	5.0	2.0	unscreened	-	1913_3:183014893-183014893 C>G_IYLLASQAVDKCHSREGVDIALNDI
8:69017554-69017554 T>G	0.0	1913	MELANOMA	-	-	-	1	PREX2	uc003xxu.1,p.L966R|NM_025170,p.L966R	protein_coding, processed_transcript	uc003xxu.1	nonsynonymous SNV	exon24	c.T2897G	p.L966R	SQDGRQHCIPEDLPSQEMLLAERAP	SQDGRQHCIPEDRPSQEMLLAERAP	1.0	6.0	unscreened	-	1913_8:69017554-69017554 T>G_SQDGRQHCIPEDRPSQEMLLAERAP
10:104180915-104180915 G>A	1.0	1913	MELANOMA	-	-	-	-	FBXL15	ENST00000457067,p.G97E|uc001kvl.1,p.G97E	protein_coding, processed_transcript	uc001kvl.1	nonsynonymous SNV	exon2	c.G290A	p.G97E	RQPMEPPMEPSGGEQEPGAVRFLDL	RQPMEPPMEPSGEEQEPGAVRFLDL	6.0	3.0	unscreened	-	1913_10:104180915-104180915 G>A_RQPMEPPMEPSGEEQEPGAVRFLDL
19:57328653-57328653 C>T	0.0	1913	MELANOMA	-	-	-	-	PEG3	uc002qnw.2,p.R262K|ENST00000326441,p.R386K|uc002qnv.2,p.R386K|uc002qnt.2,p.R357K|NM_001146186,p.R386K|ENST00000599534,p.R386K|ENST00000598410,p.R262K|NM_001146187,p.R262K|ENST00000593695,p.R260K|ENST00000423103,p.R386K|NM_001146184,p.R386K|ENST00000600833,p.R231K|uc002qnx.2,p.R260K|NM_006210,p.R386K|NM_001146185,p.R260K|uc010etr.2,p.R386K|uc002qnu.2,p.R386K|ENST00000599577,p.R386K	protein_coding, processed_transcript	uc010etr.2	nonsynonymous SNV	exon9	c.G1157A	p.R386K	GFRFNSTLVSRKRVLERKRRYHFDT	GFRFNSTLVSRKKVLERKRRYHFDT	1.0	7.0	unscreened	-	1913_19:57328653-57328653 C>T_GFRFNSTLVSRKKVLERKRRYHFDT
17:10303889-10303889 T>A	0.0	1913	MELANOMA	-	-	-	-	MYH8	uc002gmm.2,p.T1185S|ENST00000403437,p.T1185S|NM_002472,p.T1185S	protein_coding	uc002gmm.2	nonsynonymous SNV	exon27	c.A3553T	p.T1185S	EFQKLRRDLEEATLQHEAMVAALRK	EFQKLRRDLEEASLQHEAMVAALRK	1.0	5.0	unscreened	-	1913_17:10303889-10303889 T>A_EFQKLRRDLEEASLQHEAMVAALRK
1:151497279-151497279 C>T	1.0	1913	MELANOMA	-	-	ID=COSM3711137;OCCURENCE=1(upper_aerodigestive_tract)	-	CGN	uc009wmw.3,p.R511C|NM_020770,p.R511C|ENST00000271636,p.R511C	retained_intron, protein_coding	uc009wmw.3	nonsynonymous SNV	exon8	c.C1531T	p.R511C	ALKGALKEEVASRDQEVEHVRQQYQ	ALKGALKEEVASCDQEVEHVRQQYQ	4.0	6.0	unscreened	-	1913_1:151497279-151497279 C>T_ALKGALKEEVASCDQEVEHVRQQYQ
5:178139890-178139890 G>A	1.0	1913	MELANOMA	-	-	ID=COSM1066514;OCCURENCE=1(endometrium)	-	ZNF354A	ENST00000335815,p.P330L|uc003mjj.3,p.P330L|NM_005649,p.P330L	protein_coding, nonsense_mediated_decay	uc003mjj.3	nonsynonymous SNV	exon5	c.C989T	p.P330L	KIHAEENPCKYNPGRKASSCSTSLS	KIHAEENPCKYNLGRKASSCSTSLS	7.0	3.0	unscreened	-	1913_5:178139890-178139890 G>A_KIHAEENPCKYNLGRKASSCSTSLS
2:186673030-186673030 G>A	0.0	1913	MELANOMA	-	-	-	-	FSIP2	ENST00000424728,p.E6333K|uc002upl.3,p.E6422K|NM_173651,p.E6422K|ENST00000343098,p.E6422K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon17	c.G19264A	p.E6422K	KVIKIIDELKSKEKSSSRKGLTLDA	KVIKIIDELKSKKKSSSRKGLTLDA	2.0	7.0	unscreened	-	1913_2:186673030-186673030 G>A_KVIKIIDELKSKKKSSSRKGLTLDA
1:156146648-156146648 G>A	0.0	1913	MELANOMA	-	-	-	-	SEMA4A	NM_001193302,p.V584I|ENST00000368285,p.V716I|NM_022367,p.V716I|uc001fnm.3,p.V716I|uc001fnn.3,p.V584I|ENST00000368284,p.V584I|uc001fno.3,p.V716I|NM_001193300,p.V716I|NM_001193301,p.V716I|uc009wrq.3,p.V716I|ENST00000368286,p.V584I|ENST00000368282,p.V716I|uc001fnl.3,p.V716I|ENST00000355014,p.V716I	protein_coding, processed_transcript	uc009wrq.3	nonsynonymous SNV	exon15	c.G2146A	p.V716I	ASPLRALRARGKVQGCETLRPGEKA	ASPLRALRARGKIQGCETLRPGEKA	3.0	7.0	unscreened	-	1913_1:156146648-156146648 G>A_ASPLRALRARGKIQGCETLRPGEKA
X:57146622-57146622 C>G	1.0	1913	MELANOMA	-	-	-	-	SPIN2B	uc022bxw.1,p.W147C|NM_001006683,p.W147C|ENST00000374912,p.W147C|ENST00000275988,p.W147C|ENST00000333933,p.W147C|uc004duy.3,p.W147C|NM_001006681,p.W147C|ENST00000434397,p.W147C|uc004dva.3,p.W147C|NM_001006682,p.W147C|uc004duz.3,p.W147C	protein_coding, processed_transcript	uc022bxw.1	nonsynonymous SNV	exon1	c.G441C	p.W147C	HMFEGEHGSKDEWRGMVLAQAPIMK	HMFEGEHGSKDECRGMVLAQAPIMK	5.0	3.0	unscreened	-	1913_X:57146622-57146622 C>G_HMFEGEHGSKDECRGMVLAQAPIMK
5:167589750-167589750 G>A	0.0	1913	MELANOMA	-	-	-	-	TENM2	uc003lzr.5,p.D621N|ENST00000545108,p.D853N|ENST00000518659,p.D853N|uc003lzt.4,p.D217N|ENST00000520394,p.D621N|ENST00000519204,p.D732N|uc010jje.3,p.D115N|NM_001122679,p.D844N|uc010jjd.3,p.D844N|ENST00000403607,p.D677N	retained_intron, protein_coding, processed_transcript	uc010jje.3	nonsynonymous SNV	exon3	c.G343A	p.D115N	NVAMETSCADNKDNEGDGLVDCLDP	NVAMETSCADNKNNEGDGLVDCLDP	1.0	8.0	unscreened	-	1913_5:167589750-167589750 G>A_NVAMETSCADNKNNEGDGLVDCLDP
8:109797324-109797324 C>T	0.0	1913	MELANOMA	-	-	-	-	TMEM74	uc003ymy.1,p.E2K|ENST00000297459,p.E2K|uc022azr.1,p.E2K|NM_153015,p.E2K	protein_coding, processed_transcript	uc022azr.1	nonsynonymous SNV	exon1	c.G4A	p.E2K	MELHYLAKKSNQAD	MKLHYLAKKSNQAD	1.0	6.0	unscreened	-	1913_8:109797324-109797324 C>T_MKLHYLAKKSNQAD
19:52394791-52394791 G>A	0.0	1913	MELANOMA	-	-	-	-	ZNF649	NM_023074,p.H200Y|ENST00000600738,p.H200Y|uc002pxy.3,p.H200Y|ENST00000354957,p.H200Y	retained_intron, protein_coding	uc002pxy.3	nonsynonymous SNV	exon5	c.C598T	p.H200Y	LKKSQLTEHKRIHTGKKPHVCSLCG	LKKSQLTEHKRIYTGKKPHVCSLCG	4.0	2.0	unscreened	-	1913_19:52394791-52394791 G>A_LKKSQLTEHKRIYTGKKPHVCSLCG
2:165984179-165984179 C>T	0.0	1913	MELANOMA	-	-	ID=COSM570895,COSM1141880;OCCURENCE=1(lung)	-	SCN3A	ENST00000283254,p.E1119K|uc002udb.1,p.E939K|uc002ucx.3,p.E1119K|uc002ucy.3,p.E1070K|NM_001081676,p.E1070K|ENST00000409101,p.E1070K|NM_001081677,p.E1070K|uc002uda.1,p.E939K|ENST00000440431,p.E1070K|ENST00000360093,p.E1119K|uc002ucz.3,p.E1070K|NM_006922,p.E1119K	retained_intron, protein_coding, processed_transcript	uc002udb.1	nonsynonymous SNV	exon14	c.G2815A	p.E939K	VGESDFENLNTEEFSSESELEESKE	VGESDFENLNTEKFSSESELEESKE	3.0	7.0	unscreened	-	1913_2:165984179-165984179 C>T_VGESDFENLNTEKFSSESELEESKE
7:136700412-136700412 G>A	0.0	1913	MELANOMA	-	-	-	-	CHRM2	uc003vtn.1,p.R267K|ENST00000445907,p.R267K|ENST00000401861,p.R267K|NM_001006632,p.R267K|NM_001006626,p.R267K|uc003vto.1,p.R267K|ENST00000320658,p.R267K|NM_001006628,p.R267K|uc003vtf.1,p.R267K|ENST00000402486,p.R267K|NM_001006629,p.R267K|uc003vti.1,p.R267K|uc022ame.1,p.R267K|uc003vtk.1,p.R267K|NM_000739,p.R267K|NM_001006631,p.R267K|uc003vtj.1,p.R267K|uc003vtg.1,p.R267K|uc003vtl.1,p.R267K|NM_001006630,p.R267K|NM_001006627,p.R267K|uc003vtm.1,p.R267K|ENST00000453373,p.R267K|ENST00000397608,p.R267K	protein_coding, processed_transcript	uc022ame.1	nonsynonymous SNV	exon1	c.G800A	p.R267K	LEHNKIQNGKAPRDPVTENCVQGEE	LEHNKIQNGKAPKDPVTENCVQGEE	1.0	5.0	unscreened	-	1913_7:136700412-136700412 G>A_LEHNKIQNGKAPKDPVTENCVQGEE
2:167055411-167055411 G>A	0.0	1913	MELANOMA	-	-	-	-	SCN9A	ENST00000375387,p.S1914L|NM_002977,p.S1902L|ENST00000409435,p.S1913L|ENST00000303354,p.S1914L|ENST00000409672,p.S1902L|uc010fpl.3,p.S1902L	retained_intron, protein_coding	uc010fpl.3	nonsynonymous SNV	exon27	c.C5705T	p.S1902L	RRYRLRQNVKNISSIYIKDGDRDDD	RRYRLRQNVKNILSIYIKDGDRDDD	1.0	5.0	unscreened	-	1913_2:167055411-167055411 G>A_RRYRLRQNVKNILSIYIKDGDRDDD
7:150389845-150389845 G>A	0.0	1913	MELANOMA	-	-	-	-	GIMAP2	ENST00000223293,p.M157I|uc003who.3,p.M157I|NM_015660,p.M157I	retained_intron, protein_coding	uc003who.3	nonsynonymous SNV	exon3	c.G471A	p.M157I	FTHKEDLNGGSLMDYMHDSDNKALS	FTHKEDLNGGSLIDYMHDSDNKALS	2.0	5.0	unscreened	-	1913_7:150389845-150389845 G>A_FTHKEDLNGGSLIDYMHDSDNKALS
19:58187838-58187838 A>C	0.0	1913	MELANOMA	-	-	-	-	ZSCAN4	ENST00000318203,p.K109Q|uc002qpu.3,p.K109Q|NM_152677,p.K109Q	protein_coding	uc002qpu.3	nonsynonymous SNV	exon3	c.A325C	p.K109Q	HCNDKASVKEKWKSSGKNLERFIED	HCNDKASVKEKWQSSGKNLERFIED	1.0	4.0	unscreened	-	1913_19:58187838-58187838 A>C_HCNDKASVKEKWQSSGKNLERFIED
7:45010267-45010267 C>T	0.0	1913	MELANOMA	-	-	-	-	MYO1G	uc003tmh.2,p.D381N|NM_033054,p.D381N|uc003tmi.1,p.D293N|uc010kym.2,p.D266N|ENST00000258787,p.D381N|uc003tmg.2,p.D143N|uc003tmj.2,p.D143N	retained_intron, protein_coding, nonsense_mediated_decay	uc010kym.2	nonsynonymous SNV	exon8	c.G796A	p.D266N	NRINSVMEPRGRDPRRDGKDTVIGV	NRINSVMEPRGRNPRRDGKDTVIGV	3.0	6.0	unscreened	-	1913_7:45010267-45010267 C>T_NRINSVMEPRGRNPRRDGKDTVIGV
11:106647256-106647256 C>T	1.0	1913	MELANOMA	-	-	-	-	GUCY1A2	NM_000855,p.S582N|NM_001256424,p.S582N|uc010rvo.2,p.S603N|uc001pjf.5,p.S582N|ENST00000347596,p.S603N|uc001pjg.2,p.S582N|ENST00000526355,p.S582N|ENST00000282249,p.S582N	protein_coding	uc010rvo.2	nonsynonymous SNV	exon7	c.G1808A	p.S603N	DAYCVAAGLHRKSLCHAKPIALMAL	DAYCVAAGLHRKNLCHAKPIALMAL	3.0	7.0	unscreened	-	1913_11:106647256-106647256 C>T_DAYCVAAGLHRKNLCHAKPIALMAL
5:149001593-149001593 G>A	0.0	1913	MELANOMA	-	-	-	-	ARHGEF37	ENST00000333677,p.V435M|NM_001001669,p.V435M|uc003lra.1,p.V435M	retained_intron, protein_coding	uc003lra.1	nonsynonymous SNV	exon9	c.G1303A	p.V435M	TFVTLQRDLAKQVLQRAEGSMAQLP	TFVTLQRDLAKQMLQRAEGSMAQLP	4.0	3.0	unscreened	-	1913_5:149001593-149001593 G>A_TFVTLQRDLAKQMLQRAEGSMAQLP
5:41159253-41159253 C>T	0.0	1913	MELANOMA	-	-	-	-	C6	uc003jmk.3,p.R596Q|ENST00000337836,p.R596Q|NM_001115131,p.R596Q|ENST00000263413,p.R596Q|uc003jml.2,p.R596Q|NM_000065,p.R596Q	retained_intron, protein_coding, processed_transcript	uc003jml.2	nonsynonymous SNV	exon12	c.G1787A	p.R596Q	SRTRECNNPAPQRGGKRCEGEKRQE	SRTRECNNPAPQQGGKRCEGEKRQE	1.0	8.0	unscreened	-	1913_5:41159253-41159253 C>T_SRTRECNNPAPQQGGKRCEGEKRQE
3:189612280-189612280 G>A	0.0	1913	MELANOMA	-	-	-	1	TP63	NM_001114980,p.E584K|ENST00000449992,p.E499K|ENST00000264731,p.E678K|NM_003722,p.E678K|uc003fsc.2,p.E584K|ENST00000440651,p.E674K|uc010hzd.1,p.E499K|ENST00000382063,p.E593K|ENST00000354600,p.E584K|uc003fry.2,p.E678K|ENST00000456148,p.E580K	retained_intron, protein_coding	uc010hzd.1	nonsynonymous SNV	exon11	c.G1495A	p.E499K	DARRNKQQRIKEEGE	DARRNKQQRIKEKGE	1.0	8.0	unscreened	-	1913_3:189612280-189612280 G>A_DARRNKQQRIKEKGE
2:179459170-179459170 C>T	0.0	1913	MELANOMA	-	-	-	-	TTN	uc031rqc.1,p.E19351K|uc021vsy.2,p.E16783K|NM_003319,p.E10286K|uc021vsz.2,p.E10478K|ENST00000591111,p.E17710K|NM_001267550,p.E19351K|ENST00000342992,p.E16783K|NM_001256850,p.E17710K|NM_133378,p.E16783K|uc021vtb.2,p.E10286K|ENST00000359218,p.E10411K|ENST00000589042,p.E19351K|uc021vta.2,p.E10411K|uc031rqd.1,p.E17710K|ENST00000342175,p.E10478K|NM_133432,p.E10411K|NM_133437,p.E10478K|ENST00000460472,p.E10286K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon246	c.G53128A	p.E17710K	LLSRKYTVKGLKEGDTYEYRVSAVN	LLSRKYTVKGLKKGDTYEYRVSAVN	2.0	4.0	unscreened	-	1913_2:179459170-179459170 C>T_LLSRKYTVKGLKKGDTYEYRVSAVN
5:140348900-140348900 C>T	0.0	1913	MELANOMA	-	-	-	-	PCDHAC2	NM_031883,p.A850V|uc011dag.2,p.A850V	protein_coding	uc011dag.2	nonsynonymous SNV	exon1	c.C2549T	p.A850V	QNAGNLIILKNEAVSQNEVRQWSGG	QNAGNLIILKNEVVSQNEVRQWSGG	1.0	3.0	unscreened	-	1913_5:140348900-140348900 C>T_QNAGNLIILKNEVVSQNEVRQWSGG
1:32050798-32050798 G>A	0.0	1913	MELANOMA	-	-	-	-	TINAGL1	uc010ogj.2,p.E271K|ENST00000457433,p.E271K|uc021oko.1,p.E197K|NM_022164,p.E302K|NM_001204414,p.E271K|NM_001204415,p.E197K|ENST00000271064,p.E302K|uc010ogk.1,p.E302K|uc001bta.3,p.E302K	protein_coding, processed_transcript	uc021oko.1	nonsynonymous SNV	exon7	c.G589A	p.E197K	DHCYPFSGRERDEAGPAPPCMMHSR	DHCYPFSGRERDKAGPAPPCMMHSR	1.0	3.0	unscreened	-	1913_1:32050798-32050798 G>A_DHCYPFSGRERDKAGPAPPCMMHSR
15:34355586-34355586 G>A	0.0	1913	MELANOMA	-	-	ID=COSM960776;OCCURENCE=1(endometrium)	-	CHRM5	ENST00000557872,p.R223Q|uc001zhl.1,p.R223Q|uc021sir.1,p.R223Q|uc001zhk.1,p.R223Q|NM_012125,p.R223Q|ENST00000383263,p.R223Q	protein_coding	uc021sir.1	nonsynonymous SNV	exon1	c.G668A	p.R223Q	ILYCRIYRETEKRTKDLADLQGSDS	ILYCRIYRETEKQTKDLADLQGSDS	1.0	3.0	unscreened	-	1913_15:34355586-34355586 G>A_ILYCRIYRETEKQTKDLADLQGSDS
8:24170960-24170960 G>A	0.0	1913	MELANOMA	-	-	-	-	ADAM28	ENST00000520448,p.R148Q|uc003xdx.3,p.R148Q|ENST00000437154,p.R148Q|ENST00000265769,p.R148Q|uc003xdy.3,p.R148Q|NM_014265,p.R148Q|NM_021777,p.R148Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xdy.3	nonsynonymous SNV	exon6	c.G443A	p.R148Q	QRYFIEPLSPIHRDGQEHALFKYNP	QRYFIEPLSPIHQDGQEHALFKYNP	1.0	4.0	unscreened	-	1913_8:24170960-24170960 G>A_QRYFIEPLSPIHQDGQEHALFKYNP
5:121187879-121187879 C>T	0.0	1913	MELANOMA	-	-	-	-	FTMT	NM_177478,p.P74L|ENST00000321339,p.P74L|uc003kss.3,p.P74L	protein_coding	uc003kss.3	nonsynonymous SNV	exon1	c.C221T	p.P74L	AAGPSRVRQNFHPDSEAAINRQINL	AAGPSRVRQNFHLDSEAAINRQINL	1.0	7.0	unscreened	-	1913_5:121187879-121187879 C>T_AAGPSRVRQNFHLDSEAAINRQINL
1:198678866-198678866 G>A	0.0	1913	MELANOMA	-	-	ID=COSM304372;OCCURENCE=1(large_intestine)	1	PTPRC	uc021pgy.2,p.E314K|ENST00000530727,p.E248K|uc001gut.2,p.E201K|NM_080921,p.E201K|ENST00000367376,p.E360K|ENST00000352140,p.E312K|NM_002838,p.E362K|uc001gur.2,p.E362K|ENST00000594404,p.E199K|uc010ppg.2,p.E296K|ENST00000348564,p.E201K|ENST00000529828,p.E314K|ENST00000442510,p.E362K|ENST00000367367,p.E296K|uc009wzf.2,p.E248K	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc021pgy.2	nonsynonymous SNV	exon10	c.G940A	p.E314K	DNKEIKLENLEPEHEYKCDSEILYN	DNKEIKLENLEPKHEYKCDSEILYN	4.0	8.0	unscreened	-	1913_1:198678866-198678866 G>A_DNKEIKLENLEPKHEYKCDSEILYN
2:179457544-179457544 G>A	0.0	1913	MELANOMA	-	-	-	-	TTN	ENST00000589042,p.P19768S|ENST00000460472,p.P10703S|NM_133378,p.P17200S|uc031rqc.1,p.P19768S|NM_001267550,p.P19768S|uc031rqd.1,p.P18127S|uc021vtb.2,p.P10703S|uc021vsy.2,p.P17200S|NM_133437,p.P10895S|NM_003319,p.P10703S|NM_001256850,p.P18127S|ENST00000359218,p.P10828S|ENST00000342992,p.P17200S|ENST00000342175,p.P10895S|ENST00000591111,p.P18127S|uc021vsz.2,p.P10895S|NM_133432,p.P10828S|uc021vta.2,p.P10828S	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon250	c.C54379T	p.P18127S	RVLAVNAAGESDPAHVPEPVLVKDR	RVLAVNAAGESDSAHVPEPVLVKDR	2.0	6.0	unscreened	-	1913_2:179457544-179457544 G>A_RVLAVNAAGESDSAHVPEPVLVKDR
3:77147239-77147239 G>A	0.0	1913	MELANOMA	-	-	ID=COSM480576,COSM480577;OCCURENCE=1(kidney)	2	ROBO2	uc003dpy.4,p.E46K|uc003dpz.3,p.E46K|ENST00000332191,p.E46K|NM_002942,p.E46K|NM_001290040,p.E46K|ENST00000473767,p.E46K|NM_001290039,p.E46K|ENST00000602589,p.E62K|ENST00000487694,p.E62K|uc011bgk.2,p.E46K|uc021xat.1,p.E62K|ENST00000461745,p.E46K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xat.1	nonsynonymous SNV	exon2	c.G184A	p.E62K	VEHPSDVIVSKGEPTTLNCKAEGRP	VEHPSDVIVSKGKPTTLNCKAEGRP	1.0	3.0	unscreened	-	1913_3:77147239-77147239 G>A_VEHPSDVIVSKGKPTTLNCKAEGRP
5:35957308-35957308 G>A	0.0	1913	MELANOMA	-	-	-	-	UGT3A1	NM_152404,p.P353S|uc011coq.2,p.P353S|ENST00000503189,p.P353S|uc011cor.2,p.P319S|ENST00000274278,p.P353S|ENST00000507113,p.P319S|uc003jjv.2,p.P353S	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cor.2	nonsynonymous SNV	exon4	c.C955T	p.P319S	HLATNVKIVDWLPQSDLLAHPSIRL	HLATNVKIVDWLSQSDLLAHPSIRL	2.0	7.0	unscreened	-	1913_5:35957308-35957308 G>A_HLATNVKIVDWLSQSDLLAHPSIRL
7:107696222-107696222 C>T	0.0	1913	MELANOMA	-	-	-	-	LAMB4	ENST00000422975,p.E230K|ENST00000388781,p.E1204K|uc010ljo.1,p.E1204K|NM_007356,p.E1204K|ENST00000388780,p.E1204K|uc003vey.2,p.E1204K|ENST00000205386,p.E1204K|uc010ljp.1,p.E173K	retained_intron, protein_coding, processed_transcript	uc010ljp.1	nonsynonymous SNV	exon4	c.G517A	p.E173K	AVQGLMRLAANMEDKRETLPVCEAD	AVQGLMRLAANMKDKRETLPVCEAD	1.0	6.0	unscreened	-	1913_7:107696222-107696222 C>T_AVQGLMRLAANMKDKRETLPVCEAD
11:36614610-36614610 T>G	0.0	1913	MELANOMA	-	-	-	-	RAG2	uc001mwv.4,p.E370A|uc021qgc.1,p.E370A|ENST00000311485,p.E370A|NM_001243786,p.E370A|NM_001243785,p.E370A|uc021qgd.1,p.E370A|NM_000536,p.E370A|uc021qge.1,p.E370A	protein_coding, processed_transcript	uc021qge.1	nonsynonymous SNV	exon1	c.A1109C	p.E370A	EQTTFTNSQTSTEDPGDSTPFEDSE	EQTTFTNSQTSTADPGDSTPFEDSE	1.0	3.0	unscreened	-	1913_11:36614610-36614610 T>G_EQTTFTNSQTSTADPGDSTPFEDSE
10:87628813-87628813 G>A	0.0	1913	MELANOMA	-	-	-	-	GRID1	uc001kdl.1,p.S302F|NM_017551,p.S302F|ENST00000327946,p.S302F|ENST00000464741,p.S302F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001kdl.1	nonsynonymous SNV	exon6	c.C905T	p.S302F	DNQKCTRNNHRISSLLCDPQEGYLQ	DNQKCTRNNHRIFSLLCDPQEGYLQ	1.0	3.0	unscreened	-	1913_10:87628813-87628813 G>A_DNQKCTRNNHRIFSLLCDPQEGYLQ
19:42091803-42091803 G>A	0.0	1913	MELANOMA	-	-	-	-	CEACAM21	NM_001288773,p.D141N|NM_033543,p.D268N|ENST00000401445,p.D269N|ENST00000187608,p.D268N|uc002org.4,p.D268N|ENST00000407170,p.D141N|uc002ore.4,p.D269N|NM_001290113,p.D140N|NM_001098506,p.D269N	protein_coding, processed_transcript, nonsense_mediated_decay	uc002org.4	nonsynonymous SNV	exon5	c.G802A	p.D268N	CFLLLRKTGRASDQSDFREQQPPAS	CFLLLRKTGRASNQSDFREQQPPAS	1.0	7.0	unscreened	-	1913_19:42091803-42091803 G>A_CFLLLRKTGRASNQSDFREQQPPAS
2:228884641-228884641 C>T	0.0	1913	MELANOMA	-	-	-	-	SPHKAP	ENST00000392056,p.R310K|NM_001142644,p.R310K|uc002vpq.2,p.R310K|uc010zlx.1,p.R310K|ENST00000344657,p.R310K|uc002vpp.2,p.R310K|NM_030623,p.R310K	retained_intron, protein_coding	uc010zlx.1	nonsynonymous SNV	exon7	c.G929A	p.R310K	SLDPSAKPSQWKREAVGNGRQATHY	SLDPSAKPSQWKKEAVGNGRQATHY	1.0	5.0	unscreened	-	1913_2:228884641-228884641 C>T_SLDPSAKPSQWKKEAVGNGRQATHY
8:24207446-24207446 G>A	0.0	1913	MELANOMA	-	-	-	-	ADAM28	uc010lua.3,p.R374Q|uc003xdy.3,p.R687Q|ENST00000265769,p.R687Q|NM_014265,p.R687Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lua.3	nonsynonymous SNV	exon10	c.G1121A	p.R374Q	MAVIFVVVAMVIRHQSSREKQKKDQ	MAVIFVVVAMVIQHQSSREKQKKDQ	1.0	6.0	unscreened	-	1913_8:24207446-24207446 G>A_MAVIFVVVAMVIQHQSSREKQKKDQ
2:152548467-152548467 C>T	0.0	1913	MELANOMA	-	-	-	-	NEB	NM_001164508,p.E708K|NM_004543,p.E708K|ENST00000172853,p.E708K|ENST00000604864,p.E708K|NM_001271208,p.E708K|ENST00000409198,p.E708K|ENST00000397345,p.E708K|uc002txu.3,p.E708K|uc031rpp.1,p.E708K|uc021vrc.1,p.E708K|uc021vrb.1,p.E708K|uc010fny.2,p.E262K|uc010fnx.3,p.E708K|NM_001164507,p.E708K|ENST00000427231,p.E708K|ENST00000603639,p.E708K|uc021vrd.1,p.E708K	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon23	c.G2122A	p.E708K	VAAQNSDKSYKAEYEEDKGKCYFPQ	VAAQNSDKSYKAKYEEDKGKCYFPQ	5.0	4.0	unscreened	-	1913_2:152548467-152548467 C>T_VAAQNSDKSYKAKYEEDKGKCYFPQ
3:138724744-138724744 C>T	0.0	1913	MELANOMA	-	-	-	-	PRR23A	uc011bms.2,p.E123K|NM_001134659,p.E123K|ENST00000383163,p.E123K	protein_coding	uc011bms.2	nonsynonymous SNV	exon1	c.G367A	p.E123K	RSGAQDDSSAGLEVDVFLGALREDV	RSGAQDDSSAGLKVDVFLGALREDV	1.0	6.0	unscreened	-	1913_3:138724744-138724744 C>T_RSGAQDDSSAGLKVDVFLGALREDV
17:47296984-47296984 T>C	0.0	1913	MELANOMA	-	-	-	-	ABI3	uc002iop.1,p.L182S|ENST00000225941,p.L182S|NM_001135186,p.L176S|ENST00000419580,p.L176S|NM_016428,p.L182S|uc002ioq.1,p.L176S	protein_coding	uc002ioq.1	nonsynonymous SNV	exon4	c.T527C	p.L176S	SIKAPATPASATLGRPPRIPEPVHL	SIKAPATPASATSGRPPRIPEPVHL	1.0	5.0	unscreened	-	1913_17:47296984-47296984 T>C_SIKAPATPASATSGRPPRIPEPVHL
12:51759285-51759285 C>T	0.0	1913	MELANOMA	-	-	-	-	GALNT6	uc001ryk.2,p.G248E|ENST00000543196,p.G248E|NM_007210,p.G248E|uc001ryl.1,p.G248E|ENST00000603641,p.G248E|ENST00000356317,p.G248E	protein_coding	uc001ryl.1	nonsynonymous SNV	exon5	c.G743A	p.G248E	QVVRVVRQEERKGLITARLLGASVA	QVVRVVRQEERKELITARLLGASVA	1.0	7.0	unscreened	-	1913_12:51759285-51759285 C>T_QVVRVVRQEERKELITARLLGASVA
7:4855037-4855037 A>T	0.0	1913	MELANOMA	-	-	-	-	RADIL	ENST00000399583,p.C671S|ENST00000538469,p.C431S|uc003sni.1,p.C176S|uc003snj.1,p.C671S|NM_018059,p.C671S|uc011jwc.1,p.C431S	retained_intron, protein_coding, nonsense_mediated_decay	uc011jwc.1	nonsynonymous SNV	exon8	c.T1291A	p.C431S	LSCFHWPRGVQACARLQQLLEWMRS	LSCFHWPRGVQASARLQQLLEWMRS	4.0	4.0	unscreened	-	1913_7:4855037-4855037 A>T_LSCFHWPRGVQASARLQQLLEWMRS
1:201356205-201356205 C>T	0.0	1913	MELANOMA	-	-	-	-	LAD1	NM_005558,p.R95Q|ENST00000367313,p.R109Q|ENST00000391967,p.R95Q|uc009wzu.1,p.R117Q|uc001gwm.3,p.R95Q	protein_coding, processed_transcript	uc009wzu.1	nonsynonymous SNV	exon4	c.G350A	p.R117Q	EDIQSILRTRQERRQRRQVVEAAQA	EDIQSILRTRQEQRQRRQVVEAAQA	4.0	3.0	unscreened	-	1913_1:201356205-201356205 C>T_EDIQSILRTRQEQRQRRQVVEAAQA
19:9083254-9083254 C>T	0.0	1913	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.S2854N|NM_024690,p.S2854N|uc002mkp.3,p.S2854N	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.G8561A	p.S2854N	STAPKGIPVKPTSAESGLLTPVSAS	STAPKGIPVKPTNAESGLLTPVSAS	1.0	7.0	unscreened	-	1913_19:9083254-9083254 C>T_STAPKGIPVKPTNAESGLLTPVSAS
2:228882148-228882148 C>T	0.0	1913	MELANOMA	-	-	-	-	SPHKAP	uc002vpq.2,p.G1141E|NM_030623,p.G1141E|uc010zlx.1,p.G1141E|NM_001142644,p.G1141E|uc002vpp.2,p.G1141E|ENST00000344657,p.G1141E|ENST00000392056,p.G1141E	retained_intron, protein_coding	uc010zlx.1	nonsynonymous SNV	exon7	c.G3422A	p.G1141E	FSRFMVNQMENEGRGFELLLDYYAG	FSRFMVNQMENEERGFELLLDYYAG	1.0	6.0	unscreened	-	1913_2:228882148-228882148 C>T_FSRFMVNQMENEERGFELLLDYYAG
7:99905605-99905605 G>A	0.0	1913	MELANOMA	-	-	-	-	SPDYE3	uc022aij.1,p.G33R|ENST00000332397,p.G33R|NM_001004351,p.G33R	retained_intron, protein_coding	uc022aij.1	nonsynonymous SNV	exon1	c.G97A	p.G33R	YPLQEVVDDEVSGPSAPGVDPSPPR	YPLQEVVDDEVSRPSAPGVDPSPPR	6.0	4.0	unscreened	-	1913_7:99905605-99905605 G>A_YPLQEVVDDEVSRPSAPGVDPSPPR
19:9297155-9297155 G>A	0.0	1913	MELANOMA	-	-	-	-	OR7D2	NM_175883,p.G233E|ENST00000344248,p.G233E|uc002mkz.1,p.G233E	protein_coding	uc002mkz.1	nonsynonymous SNV	exon1	c.G698A	p.G233E	IASSIRKMSSSGGKQKALSTCGSHL	IASSIRKMSSSGEKQKALSTCGSHL	1.0	8.0	unscreened	-	1913_19:9297155-9297155 G>A_IASSIRKMSSSGEKQKALSTCGSHL
11:57137441-57137441 G>A	0.0	1913	MELANOMA	-	-	-	-	P2RX3	uc001nju.3,p.D389N|NM_002559,p.D389N|ENST00000263314,p.D389N	protein_coding, processed_transcript, nonsense_mediated_decay	uc001nju.3	nonsynonymous SNV	exon12	c.G1165A	p.D389N	PSDQTTAEKQSTDSGAFSIGH	PSDQTTAEKQSTNSGAFSIGH	1.0	3.0	unscreened	-	1913_11:57137441-57137441 G>A_PSDQTTAEKQSTNSGAFSIGH
12:10467363-10467363 C>T	0.0	1913	MELANOMA	-	-	-	-	KLRD1	ENST00000539792,p.R38C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000539792	nonsynonymous SNV	exon2	c.C112T	p.R38C	GNALDESCEDKNRYIYKVLLCCPGW	GNALDESCEDKNCYIYKVLLCCPGW	1.0	3.0	unscreened	-	1913_12:10467363-10467363 C>T_GNALDESCEDKNCYIYKVLLCCPGW
9:105767007-105767007 C>T	0.0	1913	MELANOMA	-	-	ID=COSM139797;OCCURENCE=1(skin),1(large_intestine)	-	CYLC2	NM_001340,p.R71C|ENST00000487798,p.R71C|ENST00000374798,p.R71C|uc004bbs.2,p.R71C	protein_coding, processed_transcript	uc004bbs.2	nonsynonymous SNV	exon4	c.C211T	p.R71C	VSIIDEEQLRGDRRQPLWMYRSLMR	VSIIDEEQLRGDCRQPLWMYRSLMR	1.0	4.0	unscreened	-	1913_9:105767007-105767007 C>T_VSIIDEEQLRGDCRQPLWMYRSLMR
2:179516445-179516445 T>G	0.0	1913	MELANOMA	-	-	-	-	TTN	NM_001267550,p.E13137D|ENST00000591111,p.E11630D|uc021vsy.2,p.E10703D|uc031rqc.1,p.E13137D|ENST00000589042,p.E13137D|NM_001256850,p.E11630D|ENST00000342992,p.E10703D|NM_133378,p.E10703D|uc031rqd.1,p.E11630D	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon161	c.A34890C	p.E11630D	PQVTVPPKKPVPEKKAPAVVAKKPE	PQVTVPPKKPVPDKKAPAVVAKKPE	2.0	6.0	unscreened	-	1913_2:179516445-179516445 T>G_PQVTVPPKKPVPDKKAPAVVAKKPE
9:71534429-71534429 G>A	0.0	1913	MELANOMA	-	-	-	-	PIP5K1B	NM_001278253,p.E340K|ENST00000265382,p.E340K|uc004agu.4,p.E340K|ENST00000541509,p.E340K|uc011lrq.3,p.E340K|NM_003558,p.E340K|ENST00000478500,p.E380K	protein_coding, processed_transcript, nonsense_mediated_decay	uc011lrq.3	nonsynonymous SNV	exon9	c.G1018A	p.E340K	TMGGIPAKSHRGEKLLLFMGIIDIL	TMGGIPAKSHRGKKLLLFMGIIDIL	1.0	7.0	unscreened	-	1913_9:71534429-71534429 G>A_TMGGIPAKSHRGKKLLLFMGIIDIL
8:139809099-139809099 C>T	0.0	1913	MELANOMA	-	-	-	-	COL22A1	uc003yvd.3,p.G520D|ENST00000303045,p.G520D|ENST00000435777,p.G520D|NM_152888,p.G520D	protein_coding, processed_transcript	uc003yvd.3	nonsynonymous SNV	exon12	c.G1559A	p.G520D	GAPGPKGEKGDVGIGPFGQGEKGEK	GAPGPKGEKGDVDIGPFGQGEKGEK	5.0	6.0	unscreened	-	1913_8:139809099-139809099 C>T_GAPGPKGEKGDVDIGPFGQGEKGEK
16:71610295-71610295 C>T	0.0	1913	MELANOMA	-	-	-	-	TAT	uc002faq.3,p.M8I|uc002fap.2,p.M8I|ENST00000355962,p.M8I|NM_000353,p.M8I|uc002far.3,p.M8I	retained_intron, protein_coding	uc002far.3	nonsynonymous SNV	exon2	c.G24A	p.M8I	MDPYMIQMSSKGNLPSILDV	MDPYMIQISSKGNLPSILDV	2.0	7.0	unscreened	-	1913_16:71610295-71610295 C>T_MDPYMIQISSKGNLPSILDV
19:53741097-53741097 C>T	0.0	1913	MELANOMA	-	-	-	-	ZNF677	uc002qbg.1,p.E295K|ENST00000598513,p.E295K|NM_182609,p.E295K|uc002qbf.1,p.E295K|ENST00000333952,p.E295K	retained_intron, protein_coding, processed_transcript	uc002qbg.1	nonsynonymous SNV	exon5	c.G883A	p.E295K	RIHSGQRPYKCNECGKAFNQCSNLT	RIHSGQRPYKCNKCGKAFNQCSNLT	1.0	5.0	unscreened	-	1913_19:53741097-53741097 C>T_RIHSGQRPYKCNKCGKAFNQCSNLT
1:20501525-20501525 C>T	0.0	1913	MELANOMA	-	-	-	-	PLA2G2C	ENST00000429261,p.G52R	protein_coding, processed_transcript	ENST00000429261	nonsynonymous SNV	exon2	c.G154A	p.G52R	YGYGCYCGLGDKGIPVDDTDRHSPS	YGYGCYCGLGDKRIPVDDTDRHSPS	1.0	3.0	unscreened	-	1913_1:20501525-20501525 C>T_YGYGCYCGLGDKRIPVDDTDRHSPS
5:64595938-64595938 C>T	1.0	1913	MELANOMA	-	-	-	-	ADAMTS6	ENST00000381055,p.G415E|NM_197941,p.G415E|uc003jtp.3,p.G415E|uc003jtr.1,p.G36E|ENST00000536360,p.G415E|ENST00000464680,p.G415E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jtr.1	nonsynonymous SNV	exon9	c.G107A	p.G36E	HEIGHNFGMNHDGIGNSCGTKGHEA	HEIGHNFGMNHDEIGNSCGTKGHEA	4.0	7.0	unscreened	-	1913_5:64595938-64595938 C>T_HEIGHNFGMNHDEIGNSCGTKGHEA
2:133489330-133489330 A>T	0.0	1913	MELANOMA	-	-	-	-	NCKAP5	uc002ttp.3,p.L1808H|uc002ttq.3,p.L489H|NM_207363,p.L1808H|ENST00000409261,p.L1808H|ENST00000409213,p.L489H|ENST00000405974,p.L489H|NM_207481,p.L489H|ENST00000317721,p.L1808H	protein_coding, processed_transcript	uc002ttq.3	nonsynonymous SNV	exon15	c.T1466A	p.L489H	MTARGMRPLQSRLPKPASSGKVSSQ	MTARGMRPLQSRHPKPASSGKVSSQ	1.0	3.0	unscreened	-	1913_2:133489330-133489330 A>T_MTARGMRPLQSRHPKPASSGKVSSQ
16:52473876-52473876 G>A	0.0	1913	MELANOMA	-	-	-	-	TOX3	ENST00000407228,p.A326V|uc002egw.2,p.A331V|ENST00000219746,p.A331V|NM_001146188,p.A326V|uc010vgt.1,p.A326V|NM_001080430,p.A331V	retained_intron, protein_coding, nonsense_mediated_decay	uc010vgt.1	nonsynonymous SNV	exon8	c.C977T	p.A326V	LAAYRASLVSKAAAESAEAQTIRSV	LAAYRASLVSKAVAESAEAQTIRSV	1.0	6.0	unscreened	-	1913_16:52473876-52473876 G>A_LAAYRASLVSKAVAESAEAQTIRSV
1:215807999-215807999 T>A	0.0	1913	MELANOMA	-	-	-	-	USH2A	uc001hku.1,p.K5033N|ENST00000366943,p.K5033N|NM_206933,p.K5033N|ENST00000307340,p.K5033N	retained_intron, protein_coding	uc001hku.1	nonsynonymous SNV	exon70	c.A15099T	p.K5033N	LTTPGKKKGSRSKSTEFYSELWFIV	LTTPGKKKGSRSNSTEFYSELWFIV	1.0	7.0	unscreened	-	1913_1:215807999-215807999 T>A_LTTPGKKKGSRSNSTEFYSELWFIV
5:128351617-128351617 G>A	0.0	1913	MELANOMA	0.0005	-	-	-	SLC27A6	ENST00000506176,p.G337R|ENST00000262462,p.G337R|NM_014031,p.G337R|uc003kuy.3,p.G337R|NM_001017372,p.G337R|uc003kuz.3,p.G337R|ENST00000395266,p.G337R	protein_coding	uc003kuz.3	nonsynonymous SNV	exon5	c.G1009A	p.G337R	EGEKDHKVRLAIGNGIRSDVWREFL	EGEKDHKVRLAIRNGIRSDVWREFL	1.0	7.0	unscreened	-	1913_5:128351617-128351617 G>A_EGEKDHKVRLAIRNGIRSDVWREFL
10:48429087-48429087 C>T	0.0	1913	MELANOMA	-	-	-	-	GDF10	uc009xnq.2,p.D267N|ENST00000224605,p.D267N|uc009xnp.3,p.D266N|NM_004962,p.D267N|uc001jfb.3,p.D267N	protein_coding	uc009xnq.2	nonsynonymous SNV	exon2	c.G799A	p.D267N	EPNSVAVTLQRYDPFPAGDPEPRAA	EPNSVAVTLQRYNPFPAGDPEPRAA	1.0	3.0	unscreened	-	1913_10:48429087-48429087 C>T_EPNSVAVTLQRYNPFPAGDPEPRAA
10:94037-94037 T>A	0.0	1913	MELANOMA	-	-	-	-	TUBB8	ENST00000332708,p.E62D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000332708	nonsynonymous SNV	exon3	c.A186T	p.E62D	GQTTSSSVSVGPETTGPRDTTPKAR	GQTTSSSVSVGPDTTGPRDTTPKAR	1.0	3.0	unscreened	-	1913_10:94037-94037 T>A_GQTTSSSVSVGPDTTGPRDTTPKAR
19:51918507-51918507 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1712686,COSM1712685;OCCURENCE=1(skin)	-	SIGLEC10	ENST00000439889,p.E362K|uc010ycz.2,p.E372K|uc002pwr.3,p.E420K|NM_001171159,p.E362K|ENST00000436984,p.E372K|ENST00000432469,p.E337K|uc010ycy.2,p.E330K|uc002pwq.3,p.E362K|uc002pwp.3,p.E362K|uc002pws.2,p.E272K|ENST00000356298,p.E420K|NM_001171161,p.E272K|NM_001171158,p.E372K|ENST00000442846,p.E272K|uc010eow.3,p.E232K|NM_001171157,p.E420K|ENST00000339313,p.E420K|NM_001171156,p.E362K|uc002pwo.3,p.E420K|ENST00000353836,p.E420K|ENST00000441969,p.E362K|ENST00000525998,p.E330K|NM_033130,p.E420K	retained_intron, protein_coding	uc010ycz.2	nonsynonymous SNV	exon7	c.G1114A	p.E372K	GVLELPRVQVEHEGEFTCHARHPLG	GVLELPRVQVEHKGEFTCHARHPLG	3.0	7.0	unscreened	-	1913_19:51918507-51918507 C>T_GVLELPRVQVEHKGEFTCHARHPLG
12:18747429-18747429 G>A	0.0	1913	MELANOMA	-	-	-	-	PIK3C2G	NM_001288774,p.S1116N|ENST00000433979,p.S1297N|NM_004570,p.S1297N|NM_001288772,p.S1338N|ENST00000538779,p.S1338N|uc010sic.2,p.S1116N|uc010sib.2,p.S1338N|ENST00000266497,p.S1297N|uc001rdt.3,p.S1297N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010sic.2	nonsynonymous SNV	exon29	c.G3347A	p.S1116N	EQILNVSHEVTNSDCVLSFFLSEAV	EQILNVSHEVTNNDCVLSFFLSEAV	1.0	6.0	unscreened	-	1913_12:18747429-18747429 G>A_EQILNVSHEVTNNDCVLSFFLSEAV
17:43246814-43246814 C>T	1.0	1913	MELANOMA	-	-	-	-	HEXIM2	NM_144608,p.P167S|uc002iih.1,p.P167S|ENST00000592695,p.P167S|uc002iii.1,p.P167S|ENST00000591576,p.P167S|ENST00000585340,p.P189S|uc010daf.1,p.P189S|uc002iij.1,p.P167S|ENST00000307275,p.P167S	protein_coding	uc010daf.1	nonsynonymous SNV	exon3	c.C565T	p.P189S	EPNLDVPHGISHPGSSGESEAGDSD	EPNLDVPHGISHSGSSGESEAGDSD	8.0	5.0	unscreened	-	1913_17:43246814-43246814 C>T_EPNLDVPHGISHSGSSGESEAGDSD
3:36873974-36873974 G>T	0.0	1913	MELANOMA	-	-	-	-	TRANK1	NM_014831,p.S2323Y|ENST00000429976,p.S2323Y|ENST00000428977,p.S1773Y|uc003cgj.3,p.S2323Y|ENST00000301807,p.S1773Y	protein_coding, processed_transcript	uc003cgj.3	nonsynonymous SNV	exon21	c.C6968A	p.S2323Y	EDNYNRELKALESEKDERGRGRGSR	EDNYNRELKALEYEKDERGRGRGSR	3.0	8.0	unscreened	-	1913_3:36873974-36873974 G>T_EDNYNRELKALEYEKDERGRGRGSR
2:220502357-220502357 G>A	0.0	1913	MELANOMA	-	-	-	-	SLC4A3	uc002vmp.4,p.G864R|ENST00000358055,p.G864R|NM_005070,p.G864R|ENST00000273063,p.G891R|ENST00000317151,p.G864R|uc010fwn.1,p.G373R|NM_201574,p.G891R|uc002vmo.4,p.G891R|ENST00000373762,p.G891R|ENST00000373760,p.G864R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010fwn.1	nonsynonymous SNV	exon11	c.G1117A	p.G373R	LLPFYPPEGALEGSLDAGLEPNGSA	LLPFYPPEGALERSLDAGLEPNGSA	1.0	6.0	unscreened	-	1913_2:220502357-220502357 G>A_LLPFYPPEGALERSLDAGLEPNGSA
1:161200607-161200607 C>T	0.0	1913	MELANOMA	-	-	-	-	NR1I3	ENST00000506209,p.D276N|uc010pkm.2,p.D276N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010pkm.2	nonsynonymous SNV	exon7	c.G826A	p.D276N	QSYIKGQQRRPRDRYGGTLRAWRPH	QSYIKGQQRRPRNRYGGTLRAWRPH	6.0	6.0	unscreened	-	1913_1:161200607-161200607 C>T_QSYIKGQQRRPRNRYGGTLRAWRPH
3:150400058-150400058 C>T	0.0	1913	MELANOMA	-	-	-	-	ERICH6	NM_152394,p.D277N|uc003eyh.3,p.D131N|ENST00000295910,p.D277N|ENST00000491361,p.D131N|uc003eyg.3,p.D277N	retained_intron, protein_coding	uc003eyh.3	nonsynonymous SNV	exon7	c.G391A	p.D131N	EETSPKCEFCGSDLRAFFSNVDVSS	EETSPKCEFCGSNLRAFFSNVDVSS	1.0	4.0	unscreened	-	1913_3:150400058-150400058 C>T_EETSPKCEFCGSNLRAFFSNVDVSS
8:53025816-53025816 G>A	0.0	1913	MELANOMA	-	-	-	-	ST18	uc011ldq.1,p.P676L|NM_014682,p.P1029L|uc011lds.1,p.P934L|ENST00000276480,p.P1029L|uc011ldr.1,p.P994L|uc003xra.2,p.P1029L|uc003xqz.2,p.P1029L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lds.1	nonsynonymous SNV	exon21	c.C2801T	p.P934L	TDMYSNLERDYSPECKALLESIKQA	TDMYSNLERDYSLECKALLESIKQA	1.0	5.0	unscreened	-	1913_8:53025816-53025816 G>A_TDMYSNLERDYSLECKALLESIKQA
7:82785022-82785022 C>T	0.0	1913	MELANOMA	-	-	-	-	PCLO	NM_014510,p.G312E|NM_033026,p.G312E|uc003uhv.2,p.G312E|uc003uhx.2,p.G312E|ENST00000333891,p.G312E|ENST00000423517,p.G312E	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon2	c.G935A	p.G312E	SPSKPPIQQPTPGKPPAQQPGHEKS	SPSKPPIQQPTPEKPPAQQPGHEKS	1.0	7.0	unscreened	-	1913_7:82785022-82785022 C>T_SPSKPPIQQPTPEKPPAQQPGHEKS
1:20501525-20501525 C>T	0.0	1913	MELANOMA	-	-	-	-	PLA2G2C	ENST00000247992,p.G55R|NM_001105572,p.G55R|uc009vpq.1,p.G55R	protein_coding, processed_transcript	uc009vpq.1	nonsynonymous SNV	exon1	c.G163A	p.G55R	YGYGCYCGLGDKGIPVDDTDSPSSP	YGYGCYCGLGDKRIPVDDTDSPSSP	1.0	3.0	unscreened	-	1913_1:20501525-20501525 C>T_YGYGCYCGLGDKRIPVDDTDSPSSP
20:53205343-53205343 G>A	0.0	1913	MELANOMA	-	-	-	-	DOK5	NM_018431,p.S136N|ENST00000262593,p.S136N|ENST00000395939,p.S28N|NM_177959,p.S28N|uc002xwy.3,p.S136N	protein_coding, processed_transcript	uc002xwy.3	nonsynonymous SNV	exon4	c.G407A	p.S136N	PDLLATGVEREQSERFNVYLMPSPN	PDLLATGVEREQNERFNVYLMPSPN	1.0	5.0	unscreened	-	1913_20:53205343-53205343 G>A_PDLLATGVEREQNERFNVYLMPSPN
22:50927678-50927678 G>A	0.0	1913	MELANOMA	-	-	-	-	MIOX	ENST00000395733,p.S191N|uc003bln.1,p.S191N	protein_coding	uc003bln.1	nonsynonymous SNV	exon7	c.G572A	p.S191N	RILDTAQSSGCISPTVGSTGSSCPG	RILDTAQSSGCINPTVGSTGSSCPG	1.0	7.0	unscreened	-	1913_22:50927678-50927678 G>A_RILDTAQSSGCINPTVGSTGSSCPG
6:11768552-11768552 C>T	0.0	1913	MELANOMA	-	-	-	-	ADTRP	ENST00000414691,p.G73E|NM_001143948,p.G91E|ENST00000379413,p.G73E|uc011dip.2,p.G91E|uc003nab.3,p.G73E|ENST00000506810,p.G73E|ENST00000229583,p.G91E|ENST00000379415,p.G73E|NM_032744,p.G73E	protein_coding, processed_transcript, nonsense_mediated_decay	uc011dip.2	nonsynonymous SNV	exon3	c.G272A	p.G91E	TCLDDVLKRTKGGKDIKFLTAFRDL	TCLDDVLKRTKGEKDIKFLTAFRDL	1.0	4.0	unscreened	-	1913_6:11768552-11768552 C>T_TCLDDVLKRTKGEKDIKFLTAFRDL
22:26388455-26388455 G>A	0.0	1913	MELANOMA	-	-	-	-	MYO18B	uc010gva.1,p.E93K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010gva.1	nonsynonymous SNV	exon2	c.G277A	p.E93K	ALEEVASSDSDTERDNVSILSSQPE	ALEEVASSDSDTKRDNVSILSSQPE	1.0	4.0	unscreened	-	1913_22:26388455-26388455 G>A_ALEEVASSDSDTKRDNVSILSSQPE
10:48414135-48414135 G>C	0.0	1913	MELANOMA	-	-	-	-	GDF2	ENST00000249598,p.P245A|NM_016204,p.P245A|uc001jfa.1,p.P245A	protein_coding	uc001jfa.1	nonsynonymous SNV	exon2	c.C733G	p.P245A	HRKGCDTLDISVPPGSRNLPFFVVF	HRKGCDTLDISVAPGSRNLPFFVVF	1.0	6.0	unscreened	-	1913_10:48414135-48414135 G>C_HRKGCDTLDISVAPGSRNLPFFVVF
14:62462960-62462960 G>A	0.0	1913	MELANOMA	-	-	-	-	SYT16	ENST00000555409,p.D75N|ENST00000446982,p.D75N|uc010tsd.1,p.D75N|NM_031914,p.D75N|ENST00000430451,p.D75N|uc001xfu.1,p.D75N	protein_coding, nonsense_mediated_decay	uc010tsd.1	nonsynonymous SNV	exon2	c.G223A	p.D75N	QETYFEDEEQDNDWSQEDANSLFLE	QETYFEDEEQDNNWSQEDANSLFLE	1.0	7.0	unscreened	-	1913_14:62462960-62462960 G>A_QETYFEDEEQDNNWSQEDANSLFLE
17:10304078-10304078 C>T	0.0	1913	MELANOMA	-	-	-	-	MYH8	NM_002472,p.G1122R|ENST00000403437,p.G1122R|uc002gmm.2,p.G1122R	protein_coding	uc002gmm.2	nonsynonymous SNV	exon27	c.G3364A	p.G1122R	KIKELQARIEELGEEIEAERASRAK	KIKELQARIEELREEIEAERASRAK	1.0	7.0	unscreened	-	1913_17:10304078-10304078 C>T_KIKELQARIEELREEIEAERASRAK
7:120428926-120428926 A>G	0.0	1913	MELANOMA	-	-	-	-	TSPAN12	NM_012338,p.F213S|uc003vjk.3,p.F213S|uc010lkj.3,p.F86S|ENST00000222747,p.F213S|ENST00000415871,p.F213S	protein_coding, nonsense_mediated_decay	uc010lkj.3	nonsynonymous SNV	exon4	c.T257C	p.F86S	LYQEGCGKKMYSFLRGTKQLQVLRF	LYQEGCGKKMYSSLRGTKQLQVLRF	3.0	6.0	unscreened	-	1913_7:120428926-120428926 A>G_LYQEGCGKKMYSSLRGTKQLQVLRF
22:26388455-26388455 G>A	0.0	1913	MELANOMA	-	-	-	-	MYO18B	uc003aca.1,p.E1976K|ENST00000407587,p.E2096K|uc010guz.1,p.E1975K|ENST00000335473,p.E2095K|uc010guy.1,p.E1977K|uc003abz.1,p.E2095K|NM_032608,p.E2095K|uc011akb.1,p.E1608K|ENST00000536101,p.E2095K|uc011aka.1,p.E1249K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011akb.1	nonsynonymous SNV	exon36	c.G4822A	p.E1608K	ALEEVASSDSDTESVQTAVDCGSSG	ALEEVASSDSDTKSVQTAVDCGSSG	1.0	4.0	unscreened	-	1913_22:26388455-26388455 G>A_ALEEVASSDSDTKSVQTAVDCGSSG
8:125083820-125083820 G>A	0.0	1913	MELANOMA	-	-	-	-	FER1L6	uc003yqw.3,p.G1347E|ENST00000522917,p.G1347E|ENST00000399018,p.G1347E|NM_001039112,p.G1347E	protein_coding	uc003yqw.3	nonsynonymous SNV	exon31	c.G4040A	p.G1347E	SSEDSGQLRIQQGIPPNHPVTVLIR	SSEDSGQLRIQQEIPPNHPVTVLIR	1.0	6.0	unscreened	-	1913_8:125083820-125083820 G>A_SSEDSGQLRIQQEIPPNHPVTVLIR
14:60928085-60928085 T>A	0.0	1913	MELANOMA	-	-	-	-	C14orf39	uc001xez.4,p.E368D|NM_174978,p.E368D|uc010apo.3,p.E79D|ENST00000321731,p.E368D	protein_coding, nonsense_mediated_decay	uc010apo.3	nonsynonymous SNV	exon8	c.A237T	p.E79D	TPQKQSNSNQWSEKGDKDAEYGDKG	TPQKQSNSNQWSDKGDKDAEYGDKG	4.0	3.0	unscreened	-	1913_14:60928085-60928085 T>A_TPQKQSNSNQWSDKGDKDAEYGDKG
1:158654983-158654983 C>T	0.0	1913	MELANOMA	-	-	-	-	SPTA1	uc001fst.1,p.R60Q|ENST00000368147,p.R60Q|NM_003126,p.R60Q|ENST00000368148,p.R60Q	protein_coding, processed_transcript	uc001fst.1	nonsynonymous SNV	exon2	c.G179A	p.R60Q	KLEDSYHLQVFKRDADDLGKWIMEK	KLEDSYHLQVFKQDADDLGKWIMEK	1.0	6.0	unscreened	-	1913_1:158654983-158654983 C>T_KLEDSYHLQVFKQDADDLGKWIMEK
20:44664130-44664130 G>A	0.0	1913	MELANOMA	-	-	-	-	SLC12A5	uc031rtt.1,p.E28K|NM_001134771,p.E102K|ENST00000539566,p.E79K|uc031rtr.1,p.E79K|uc002xrb.2,p.E79K|NM_020708,p.E79K|ENST00000454036,p.E102K|ENST00000372315,p.E79K|uc002xra.3,p.E79K|ENST00000243964,p.E79K|uc010zxl.1,p.E102K|uc031rts.1,p.E79K	protein_coding	uc031rtt.1	nonsynonymous SNV	exon2	c.G82A	p.E28K	NYTNLPQGSREHEEAENNEGGKKKP	NYTNLPQGSREHKEAENNEGGKKKP	1.0	4.0	unscreened	-	1913_20:44664130-44664130 G>A_NYTNLPQGSREHKEAENNEGGKKKP
10:115335674-115335674 C>T	0.0	1913	MELANOMA	-	-	-	-	HABP2	NM_004132,p.P81L|ENST00000351270,p.P81L|uc021pyr.1,p.P55L|NM_001177660,p.P55L|ENST00000541666,p.P81L|uc001lai.4,p.P81L|ENST00000542051,p.P55L	protein_coding, processed_transcript	uc021pyr.1	nonsynonymous SNV	exon4	c.C164T	p.P55L	YTEDQADPCQPNPCEHGGDCLVHGS	YTEDQADPCQPNLCEHGGDCLVHGS	1.0	4.0	unscreened	-	1913_10:115335674-115335674 C>T_YTEDQADPCQPNLCEHGGDCLVHGS
5:13700902-13700902 C>T	0.0	1913	MELANOMA	0.0005	-	ID=COSM3826809;OCCURENCE=1(breast)	-	DNAH5	ENST00000265104,p.D4524N|uc003jfd.2,p.D4524N|uc003jfc.2,p.D692N|NM_001369,p.D4524N	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon78	c.G13570A	p.D4524N	VLCNEVTKWMKDDISAPPTEGVYVY	VLCNEVTKWMKDNISAPPTEGVYVY	1.0	3.0	unscreened	-	1913_5:13700902-13700902 C>T_VLCNEVTKWMKDNISAPPTEGVYVY
3:62356892-62356892 C>T	0.0	1913	MELANOMA	-	-	-	-	FEZF2	ENST00000283268,p.G374R|ENST00000486811,p.G374R|NM_018008,p.G374R|ENST00000475839,p.G374R|uc003dlh.2,p.G374R|uc003dli.2,p.G374R	protein_coding	uc003dli.2	nonsynonymous SNV	exon4	c.G1120A	p.G374R	VCEFCGKGFHQKGNYKNHKLTHSGE	VCEFCGKGFHQKRNYKNHKLTHSGE	1.0	3.0	unscreened	-	1913_3:62356892-62356892 C>T_VCEFCGKGFHQKRNYKNHKLTHSGE
2:179483083-179483083 C>T	0.0	1913	MELANOMA	-	-	-	-	TTN	uc021vsz.2,p.R6828K|uc021vsy.2,p.R13133K|ENST00000342175,p.R6828K|uc031rqd.1,p.R14060K|NM_003319,p.R6636K|uc021vta.2,p.R6761K|NM_133378,p.R13133K|ENST00000359218,p.R6761K|NM_133437,p.R6828K|NM_001256850,p.R14060K|ENST00000342992,p.R13133K|uc031rqc.1,p.R15701K|ENST00000589042,p.R15701K|NM_133432,p.R6761K|NM_001267550,p.R15701K|ENST00000591111,p.R14060K|ENST00000460472,p.R6636K|uc021vtb.2,p.R6636K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon202	c.G42179A	p.R14060K	IIGYVVERRDIKRKTWVLATDRAES	IIGYVVERRDIKKKTWVLATDRAES	2.0	7.0	unscreened	-	1913_2:179483083-179483083 C>T_IIGYVVERRDIKKKTWVLATDRAES
2:179402613-179402613 C>T	0.0	1913	MELANOMA	-	-	-	-	TTN	uc021vtb.2,p.M24042I|uc031rqd.1,p.M31466I|NM_003319,p.M24042I|NM_133378,p.M30539I|NM_001267550,p.M33107I|uc021vsz.2,p.M24234I|ENST00000591111,p.M31466I|uc021vsy.2,p.M30539I|ENST00000460472,p.M24042I|uc021vta.2,p.M24167I|NM_133437,p.M24234I|uc031rqc.1,p.M33107I|ENST00000342992,p.M30539I|NM_133432,p.M24167I|NM_001256850,p.M31466I|ENST00000359218,p.M24167I|ENST00000342175,p.M24234I	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon305	c.G94398A	p.M31466I	LTSGEAPGIRKEMKDVTTKLGEAAQ	LTSGEAPGIRKEIKDVTTKLGEAAQ	2.0	6.0	unscreened	-	1913_2:179402613-179402613 C>T_LTSGEAPGIRKEIKDVTTKLGEAAQ
8:69017523-69017523 G>A	0.0	1913	MELANOMA	-	-	-	1	PREX2	uc003xxu.1,p.D956N|NM_025170,p.D956N	protein_coding, processed_transcript	uc003xxu.1	nonsynonymous SNV	exon24	c.G2866A	p.D956N	LLLPPPLLGISQDGRQHCIPEDLPS	LLLPPPLLGISQNGRQHCIPEDLPS	1.0	7.0	unscreened	-	1913_8:69017523-69017523 G>A_LLLPPPLLGISQNGRQHCIPEDLPS
2:196545458-196545458 G>A	1.0	1913	MELANOMA	-	-	-	-	SLC39A10	ENST00000409086,p.G231E|NM_001127257,p.G231E|uc002uth.4,p.G231E|ENST00000359634,p.G231E|NM_020342,p.G231E|uc002utg.4,p.G231E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002uth.4	nonsynonymous SNV	exon2	c.G692A	p.G231E	KTQEQSDVKLPKGKRKKKGRKSNEN	KTQEQSDVKLPKEKRKKKGRKSNEN	6.0	4.0	unscreened	-	1913_2:196545458-196545458 G>A_KTQEQSDVKLPKEKRKKKGRKSNEN
13:24465978-24465978 G>A	0.0	1913	MELANOMA	-	-	-	-	C1QTNF9B,C1QTNF9B-AS1	uc009zzx.3,p.G87S|NM_001135816,p.G87S|NM_001014442,p.G78S|uc001uoy.3,p.G78S	protein_coding, processed_transcript	uc009zzx.3	nonsynonymous SNV	exon4	c.G259A	p.G87S	LGPGFPIGPMGPGKPVGPKGPMLPL	LGPGFPIGPMGPSKPVGPKGPMLPL	4.0	6.0	unscreened	-	1913_13:24465978-24465978 G>A_LGPGFPIGPMGPSKPVGPKGPMLPL
9:135102319-135102319 C>T	0.0	1913	MELANOMA	-	-	-	-	NTNG2	ENST00000393228,p.P314L|ENST00000393229,p.P314L|uc004cbh.2,p.P314L|ENST00000360670,p.P314L|ENST00000372179,p.P314L|NM_032536,p.P314L	protein_coding, processed_transcript	uc004cbh.2	nonsynonymous SNV	exon4	c.C941T	p.P314L	SLQCECEHNTTGPDCGKCKKNFRTR	SLQCECEHNTTGLDCGKCKKNFRTR	3.0	7.0	unscreened	-	1913_9:135102319-135102319 C>T_SLQCECEHNTTGLDCGKCKKNFRTR
10:102568868-102568868 G>A	0.0	1913	MELANOMA	-	-	-	-	PAX2	NM_003988,p.G265E|ENST00000554172,p.G261E|uc010qps.2,p.G264E|uc001krl.4,p.G265E|NM_003989,p.G265E|NM_003987,p.G288E|ENST00000370296,p.G288E|uc001krp.1,p.G261E|NM_003990,p.G288E|NM_000278,p.G265E|uc001kro.4,p.G265E|ENST00000428433,p.G288E|uc001krk.4,p.G288E|ENST00000355243,p.G265E|ENST00000361791,p.G265E|ENST00000556085,p.G264E|uc001krm.4,p.G288E|uc001krn.4,p.G265E	retained_intron, protein_coding, nonsense_mediated_decay	uc010qps.2	nonsynonymous SNV	exon7	c.G791A	p.G264E	VFQASEHIKSEQGNEYSLPALTPGL	VFQASEHIKSEQENEYSLPALTPGL	1.0	6.0	unscreened	-	1913_10:102568868-102568868 G>A_VFQASEHIKSEQENEYSLPALTPGL
20:23548973-23548973 C>T	0.0	1913	MELANOMA	-	-	-	-	CST9L	NM_080610,p.E39K|ENST00000376979,p.E39K|uc002wtk.4,p.E39K	protein_coding	uc002wtk.4	nonsynonymous SNV	exon1	c.G115A	p.E39K	YAWHFHEQRDCDEHNVMARYLPATV	YAWHFHEQRDCDKHNVMARYLPATV	1.0	7.0	unscreened	-	1913_20:23548973-23548973 C>T_YAWHFHEQRDCDKHNVMARYLPATV
7:141763351-141763351 G>A	0.0	1913	MELANOMA	-	-	-	-	MGAM	uc003vwy.3,p.R1437K|ENST00000549489,p.R1437K|ENST00000475668,p.R1437K|NM_004668,p.R1437K	retained_intron, protein_coding, processed_transcript	uc003vwy.3	nonsynonymous SNV	exon36	c.G4310A	p.R1437K	SSFVNGAVSPGCRDASLNHPPYMPH	SSFVNGAVSPGCKDASLNHPPYMPH	4.0	5.0	unscreened	-	1913_7:141763351-141763351 G>A_SSFVNGAVSPGCKDASLNHPPYMPH
10:101816837-101816837 G>A	0.0	1913	MELANOMA	-	-	-	-	CPN1	ENST00000370418,p.P315L|ENST00000441382,p.P112L|NM_001308,p.P315L|uc001kql.2,p.P315L	protein_coding, processed_transcript	uc001kql.2	nonsynonymous SNV	exon6	c.C944T	p.P315L	FEITLELSCDKFPPEEELQREWLGN	FEITLELSCDKFLPEEELQREWLGN	1.0	5.0	unscreened	-	1913_10:101816837-101816837 G>A_FEITLELSCDKFLPEEELQREWLGN
2:179494033-179494033 C>T	0.0	1913	MELANOMA	-	-	ID=COSM1012476,COSM1012479,COSM1403062,COSM1012480,COSM1012478;OCCURENCE=1(large_intestine),1(endometrium)	-	TTN	uc021vtb.2,p.D5742N|NM_133378,p.D12239N|NM_001256850,p.D13166N|ENST00000460472,p.D5742N|NM_133432,p.D5867N|NM_001267550,p.D14807N|ENST00000591111,p.D13166N|uc031rqc.1,p.D14807N|uc021vsz.2,p.D5934N|uc021vsy.2,p.D12239N|NM_003319,p.D5742N|ENST00000589042,p.D14807N|ENST00000359218,p.D5867N|uc031rqd.1,p.D13166N|NM_133437,p.D5934N|ENST00000342992,p.D12239N|ENST00000342175,p.D5934N|uc021vta.2,p.D5867N	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon190	c.G39496A	p.D13166N	EWYLKGKKLEPSDKVVPRSEGKVHT	EWYLKGKKLEPSNKVVPRSEGKVHT	2.0	4.0	unscreened	-	1913_2:179494033-179494033 C>T_EWYLKGKKLEPSNKVVPRSEGKVHT
10:71700744-71700744 G>A	0.0	1913	MELANOMA	-	-	-	-	COL13A1	uc021psa.1,p.G544R|NM_080801,p.G594R|NM_080798,p.G544R|ENST00000354547,p.G594R|ENST00000398968,p.G597R|NM_001130103,p.G616R|ENST00000398964,p.G587R|ENST00000398974,p.G604R|uc001jqk.2,p.G594R|ENST00000520267,p.G544R|ENST00000398971,p.G601R|ENST00000398966,p.G594R|ENST00000356340,p.G616R|uc021psf.1,p.G616R|ENST00000398969,p.G544R|uc001jql.3,p.G616R|uc021psg.1,p.G594R|ENST00000398972,p.G602R|ENST00000398978,p.G616R|uc010qjf.2,p.G544R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021psg.1	nonsynonymous SNV	exon33	c.G1780A	p.G594R	GEKGDRGPLGLPGASGLDGRPGPPG	GEKGDRGPLGLPRASGLDGRPGPPG	2.0	4.0	unscreened	-	1913_10:71700744-71700744 G>A_GEKGDRGPLGLPRASGLDGRPGPPG
16:71663283-71663283 G>A	1.0	1913	MELANOMA	-	-	-	-	MARVELD3	ENST00000268485,p.E161K|uc002fau.4,p.E161K|NM_052858,p.E161K|uc002fas.2,p.E161K|ENST00000567566,p.E161K|ENST00000299952,p.E161K|NM_001017967,p.E161K|uc002fat.4,p.E161K	protein_coding, processed_transcript	uc002fau.4	nonsynonymous SNV	exon2	c.G481A	p.E161K	PGRRRPESEPPSERYLPSTPRPGRE	PGRRRPESEPPSKRYLPSTPRPGRE	3.0	3.0	unscreened	-	1913_16:71663283-71663283 G>A_PGRRRPESEPPSKRYLPSTPRPGRE
2:212543895-212543895 C>T	0.0	1913	MELANOMA	-	-	-	1	ERBB4	NM_001042599,p.V502M|ENST00000436443,p.V502M|uc010zjj.1,p.V502M|ENST00000342788,p.V502M|uc010zji.1,p.V502M|ENST00000402597,p.V502M|NM_005235,p.V502M|uc010fut.1,p.V502M|uc002veg.1,p.V502M|uc002veh.1,p.V502M	retained_intron, protein_coding, processed_transcript	uc010zjj.1	nonsynonymous SNV	exon13	c.G1504A	p.V502M	NRKAENCTAEGMVCNHLCSSDGCWG	NRKAENCTAEGMMCNHLCSSDGCWG	2.0	4.0	unscreened	-	1913_2:212543895-212543895 C>T_NRKAENCTAEGMMCNHLCSSDGCWG
5:92920946-92920946 G>A	1.0	1913	MELANOMA	-	-	-	-	NR2F1	ENST00000327111,p.G73S|NM_005654,p.G73S|uc003kkj.3,p.G73S|uc021ybk.1,p.G48S	protein_coding, processed_transcript	uc021ybk.1	nonsynonymous SNV	exon2	c.G142A	p.G48S	PATPGTAGDKGQGPPGSGQSQQHIE	PATPGTAGDKGQSPPGSGQSQQHIE	9.0	7.0	unscreened	-	1913_5:92920946-92920946 G>A_PATPGTAGDKGQSPPGSGQSQQHIE
17:78162249-78162249 C>T	0.0	1913	MELANOMA	-	-	-	-	CARD14	NM_052819,p.S13F|ENST00000392434,p.S13F|ENST00000573882,p.S250F|ENST00000575500,p.S250F|uc031res.1,p.S250F|uc002jxw.2,p.S250F|uc002jxx.3,p.S13F|NM_001257970,p.S250F|uc002jxv.3,p.S250F|ENST00000570421,p.S250F|ENST00000344227,p.S250F|NM_024110,p.S250F|uc010dhu.1,p.S48F|uc031rer.1,p.S250F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031res.1	nonsynonymous SNV	exon5	c.C749T	p.S250F	MVSSCELELQEQSLRTASDQESGDE	MVSSCELELQEQFLRTASDQESGDE	4.0	7.0	unscreened	-	1913_17:78162249-78162249 C>T_MVSSCELELQEQFLRTASDQESGDE
22:26423240-26423240 G>A	0.0	1913	MELANOMA	-	-	-	-	MYO18B	uc010guz.1,p.E2314K|uc010guy.1,p.E2316K|uc011aka.1,p.E1588K|uc010gva.1,p.E417K|ENST00000407587,p.E2435K|uc011akb.1,p.E1947K|uc003abz.1,p.E2434K|ENST00000335473,p.E2434K|NM_032608,p.E2434K|uc003aca.1,p.E2315K|ENST00000536101,p.E2434K|ENST00000540454,p.E76K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011akb.1	nonsynonymous SNV	exon39	c.G5839A	p.E1947K	DPFSWKLPSLDYERKTKVDFDDFLP	DPFSWKLPSLDYKRKTKVDFDDFLP	1.0	5.0	unscreened	-	1913_22:26423240-26423240 G>A_DPFSWKLPSLDYKRKTKVDFDDFLP
8:59764292-59764292 C>T	0.0	1913	MELANOMA	-	-	-	-	TOX	ENST00000361421,p.G162S|uc003xtw.1,p.G162S|NM_014729,p.G162S	protein_coding	uc003xtw.1	nonsynonymous SNV	exon4	c.G484A	p.G162S	SSHPQMAAMRPRGQPADIRQQPGMM	SSHPQMAAMRPRSQPADIRQQPGMM	1.0	7.0	unscreened	-	1913_8:59764292-59764292 C>T_SSHPQMAAMRPRSQPADIRQQPGMM
7:82470819-82470819 C>T	0.0	1913	MELANOMA	-	-	ID=COSM197154;OCCURENCE=1(large_intestine)	-	PCLO	uc003uhu.1,p.D115N|ENST00000423517,p.D4685N|NM_014510,p.D4685N|uc003uhv.2,p.D4685N|NM_033026,p.D4685N|uc003uht.1,p.D136N|ENST00000333891,p.D4685N|uc003uhx.2,p.D4685N	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon14	c.G14053A	p.D4685N	VSKKKHGSSKPTDGTKVVSHPITGE	VSKKKHGSSKPTNGTKVVSHPITGE	1.0	5.0	unscreened	-	1913_7:82470819-82470819 C>T_VSKKKHGSSKPTNGTKVVSHPITGE
2:120362452-120362452 G>A	0.0	1913	MELANOMA	-	-	-	-	CFAP221	ENST00000602047,p.E19K|ENST00000413369,p.E305K|uc002tmb.4,p.E20K|NM_001271049,p.E305K|uc031rou.1,p.E305K|uc010yyq.3,p.E149K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rou.1	nonsynonymous SNV	exon10	c.G913A	p.E305K	RPPAKPKPQKVKEIEYQNLRFPVDL	RPPAKPKPQKVKKIEYQNLRFPVDL	1.0	5.0	unscreened	-	1913_2:120362452-120362452 G>A_RPPAKPKPQKVKKIEYQNLRFPVDL
1:152127672-152127672 C>T	0.0	1913	MELANOMA	-	-	-	-	RPTN	NM_001122965,p.G635R|ENST00000316073,p.G635R|uc001ezs.1,p.G635R	protein_coding	uc001ezs.1	nonsynonymous SNV	exon3	c.G1903A	p.G635R	TPGQEGYQNQGQGFQSRDSQQNGHQ	TPGQEGYQNQGQRFQSRDSQQNGHQ	1.0	7.0	unscreened	-	1913_1:152127672-152127672 C>T_TPGQEGYQNQGQRFQSRDSQQNGHQ
2:234102487-234102487 G>A	0.0	1913	MELANOMA	-	-	-	-	INPP5D	ENST00000415617,p.A447T|ENST00000455936,p.A578T|ENST00000359570,p.A814T|ENST00000450745,p.A578T|ENST00000445964,p.A447T|ENST00000435188,p.A447T	retained_intron, protein_coding, processed_transcript	ENST00000455936	nonsynonymous SNV	exon18	c.G1732A	p.A578T	SYGEGCIALRLEATETQLPIYTPLT	SYGEGCIALRLETTETQLPIYTPLT	3.0	4.0	unscreened	-	1913_2:234102487-234102487 G>A_SYGEGCIALRLETTETQLPIYTPLT
8:24775067-24775067 G>A	0.0	1913	MELANOMA	-	-	-	-	NEFM	NM_005382,p.E567K|uc010lue.3,p.E191K|NM_001105541,p.E191K|ENST00000518131,p.E567K|uc011lac.1,p.E567K|ENST00000433454,p.E191K|ENST00000437366,p.E567K|ENST00000221166,p.E567K|uc003xed.4,p.E567K	protein_coding, processed_transcript	uc011lac.1	nonsynonymous SNV	exon3	c.G1699A	p.E567K	KEGSSEKEEGEQEEGETEAEAEGEE	KEGSSEKEEGEQKEGETEAEAEGEE	1.0	3.0	unscreened	-	1913_8:24775067-24775067 G>A_KEGSSEKEEGEQKEGETEAEAEGEE
15:79092638-79092638 G>C	1.0	1913	MELANOMA	-	-	-	-	ADAMTS7	ENST00000388820,p.R118G|uc002bej.4,p.R118G|NM_014272,p.R118G|uc002bek.1,p.R118G|uc010und.1,p.R118G	retained_intron, protein_coding, processed_transcript	uc010und.1	nonsynonymous SNV	exon2	c.C352G	p.R118G	FVSETRRRGGLGRAHIRAHTPACHL	FVSETRRRGGLGGAHIRAHTPACHL	6.0	5.0	unscreened	-	1913_15:79092638-79092638 G>C_FVSETRRRGGLGGAHIRAHTPACHL
8:143998503-143998503 G>A	0.0	1913	MELANOMA	-	-	ID=COSM205563;OCCURENCE=1(ovary),1(large_intestine)	-	CYP11B2	uc003yxk.1,p.R123C|ENST00000323110,p.R123C|NM_000498,p.R123C	protein_coding	uc003yxk.1	nonsynonymous SNV	exon2	c.C367T	p.R123C	MILEPWVAYRQHRGHKCGVFLLNGP	MILEPWVAYRQHCGHKCGVFLLNGP	1.0	6.0	unscreened	-	1913_8:143998503-143998503 G>A_MILEPWVAYRQHCGHKCGVFLLNGP
8:2910157-2910157 C>T	0.0	1913	MELANOMA	-	-	-	-	CSMD1	ENST00000537824,p.G2496E|uc022aqr.1,p.G2496E|ENST00000602557,p.G2497E|uc010lrg.3,p.G565E|NM_033225,p.G2496E|ENST00000602723,p.G2497E|uc011kwj.2,p.G1826E|ENST00000400186,p.G2497E|ENST00000520002,p.G2497E|ENST00000542608,p.G2496E	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon50	c.G7487A	p.G2496E	DSLTPLCQAVSCGIPESPGNGSFTG	DSLTPLCQAVSCEIPESPGNGSFTG	1.0	5.0	unscreened	-	1913_8:2910157-2910157 C>T_DSLTPLCQAVSCEIPESPGNGSFTG
9:100616572-100616572 T>A	0.0	1913	MELANOMA	-	-	-	-	FOXE1	uc004axu.3,p.Y126N|NM_004473,p.Y126N|ENST00000375123,p.Y126N	protein_coding	uc004axu.3	nonsynonymous SNV	exon1	c.T376A	p.Y126N	IPREAGRPGKGNYWALDPNAEDMFE	IPREAGRPGKGNNWALDPNAEDMFE	1.0	4.0	unscreened	-	1913_9:100616572-100616572 T>A_IPREAGRPGKGNNWALDPNAEDMFE
8:105235884-105235884 G>A	0.0	1913	MELANOMA	-	-	-	-	RIMS2	ENST00000523362,p.G2D|ENST00000339750,p.G2D|NM_001282882,p.G2D	retained_intron, protein_coding, processed_transcript	NM_001282882	nonsynonymous SNV	exon1	c.G5A	p.G2D	MGRQGLGGASAAGR	MDRQGLGGASAAGR	2.0	3.0	unscreened	-	1913_8:105235884-105235884 G>A_MDRQGLGGASAAGR
12:54405127-54405127 G>A	0.0	1913	MELANOMA	-	-	-	-	HOXC8	uc001ser.3,p.E231K|ENST00000040584,p.E231K|NM_022658,p.E231K	protein_coding	uc001ser.3	nonsynonymous SNV	exon2	c.G691A	p.E231K	EEKVEEEGNEEEEKEEEEKEENKD	EEKVEEEGNEEEKKEEEEKEENKD	1.0	3.0	unscreened	-	1913_12:54405127-54405127 G>A_EEKVEEEGNEEEKKEEEEKEENKD
10:100148243-100148243 G>A	0.0	1913	MELANOMA	-	-	-	-	PYROXD2	uc001kpc.3,p.P439S|NM_032709,p.P439S|ENST00000370575,p.P439S	protein_coding, processed_transcript	uc001kpc.3	nonsynonymous SNV	exon13	c.C1315T	p.P439S	LPSHRPVIELCIPSSLDPTLAPPGC	LPSHRPVIELCISSSLDPTLAPPGC	4.0	4.0	unscreened	-	1913_10:100148243-100148243 G>A_LPSHRPVIELCISSSLDPTLAPPGC
7:20199533-20199533 C>T	0.0	1913	MELANOMA	-	-	-	-	MACC1	NM_182762,p.A151T|ENST00000589011,p.A151T|uc010kug.3,p.A151T|uc003sus.4,p.A151T|ENST00000332878,p.A151T|ENST00000400331,p.A151T	retained_intron, protein_coding, processed_transcript	uc010kug.3	nonsynonymous SNV	exon3	c.G451A	p.A151T	SVSELLDILDDTAHAHQSIHNSDQI	SVSELLDILDDTTHAHQSIHNSDQI	1.0	4.0	unscreened	-	1913_7:20199533-20199533 C>T_SVSELLDILDDTTHAHQSIHNSDQI
7:7545697-7545697 C>T	0.0	1913	MELANOMA	-	-	-	-	COL28A1	NM_001037763,p.G325E|ENST00000399429,p.G325E|uc003src.1,p.G325E	retained_intron, protein_coding, nonsense_mediated_decay	uc003src.1	nonsynonymous SNV	exon11	c.G974A	p.G325E	GPYGPKGPRGIQGITGPPGDPGPKG	GPYGPKGPRGIQEITGPPGDPGPKG	3.0	4.0	unscreened	-	1913_7:7545697-7545697 C>T_GPYGPKGPRGIQEITGPPGDPGPKG
5:140772654-140772654 C>T	0.0	1913	MELANOMA	-	-	-	-	PCDHGA8	NM_014004,p.R92W|uc003lkd.2,p.R92W|uc003lkb.4,p.R92W|ENST00000398604,p.R92W|NM_032088,p.R92W	protein_coding	uc003lkd.2	nonsynonymous SNV	exon1	c.C274T	p.R92W	RSGSLITAGRIDREELCAQSPRCLI	RSGSLITAGRIDWEELCAQSPRCLI	1.0	7.0	unscreened	-	1913_5:140772654-140772654 C>T_RSGSLITAGRIDWEELCAQSPRCLI
7:117359605-117359605 C>T	0.0	1913	MELANOMA	-	-	-	-	CTTNBP2	ENST00000160373,p.E1533K|NM_033427,p.E1533K|uc003vjf.3,p.E1533K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vjf.3	nonsynonymous SNV	exon21	c.G4597A	p.E1533K	SLGSDDEADLVKELQSMCSSKSESD	SLGSDDEADLVKKLQSMCSSKSESD	3.0	5.0	unscreened	-	1913_7:117359605-117359605 C>T_SLGSDDEADLVKKLQSMCSSKSESD
5:138861286-138861286 G>A	0.0	1913	MELANOMA	-	-	-	-	TMEM173	uc003lep.3,p.P2S|ENST00000510817,p.P2S|ENST00000330794,p.P2S|NM_198282,p.P2S|NM_001301738,p.P2S	retained_intron, protein_coding, processed_transcript	uc003lep.3	nonsynonymous SNV	exon3	c.C4T	p.P2S	MPHSSLHPSIPCPR	MSHSSLHPSIPCPR	4.0	4.0	unscreened	-	1913_5:138861286-138861286 G>A_MSHSSLHPSIPCPR
7:100551637-100551637 C>T	0.0	1913	MELANOMA	-	-	-	-	MUC3A	ENST00000319509,p.P130S|uc003uxl.1,p.P30S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxl.1	nonsynonymous SNV	exon1	c.C88T	p.P30S	SFSTSIVVIPETPTQTPPVLTSATG	SFSTSIVVIPETSTQTPPVLTSATG	1.0	4.0	unscreened	-	1913_7:100551637-100551637 C>T_SFSTSIVVIPETSTQTPPVLTSATG
2:179456617-179456617 G>A	0.0	1913	MELANOMA	-	-	-	-	TTN	NM_001267550,p.P19977S|ENST00000460472,p.P10912S|ENST00000342175,p.P11104S|ENST00000359218,p.P11037S|uc021vtb.2,p.P10912S|ENST00000589042,p.P19977S|NM_133432,p.P11037S|uc021vsz.2,p.P11104S|NM_003319,p.P10912S|NM_001256850,p.P18336S|NM_133437,p.P11104S|uc021vsy.2,p.P17409S|ENST00000591111,p.P18336S|uc021vta.2,p.P11037S|uc031rqd.1,p.P18336S|uc031rqc.1,p.P19977S|ENST00000342992,p.P17409S|NM_133378,p.P17409S	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon253	c.C55006T	p.P18336S	TPKPIKALDPLHPPGPPKDLHHVDV	TPKPIKALDPLHSPGPPKDLHHVDV	2.0	4.0	unscreened	-	1913_2:179456617-179456617 G>A_TPKPIKALDPLHSPGPPKDLHHVDV
15:97328251-97328251 C>T	0.0	1913	MELANOMA	-	-	-	-	SPATA8	ENST00000558553,p.P34S	retained_intron, protein_coding	ENST00000558553	nonsynonymous SNV	exon3	c.C100T	p.P34S	CKGREQLFSRKDPKGSKAKGAICFP	CKGREQLFSRKDSKGSKAKGAICFP	1.0	8.0	unscreened	-	1913_15:97328251-97328251 C>T_CKGREQLFSRKDSKGSKAKGAICFP
6:161139388-161139388 C>T	0.0	1913	MELANOMA	-	-	-	-	PLG	ENST00000308192,p.R284C|uc003qtm.4,p.R284C|NM_000301,p.R284C	retained_intron, protein_coding, processed_transcript	uc003qtm.4	nonsynonymous SNV	exon8	c.C850T	p.R284C	TYQCLKGTGENYRGNVAVTVSGHTC	TYQCLKGTGENYCGNVAVTVSGHTC	1.0	4.0	unscreened	-	1913_6:161139388-161139388 C>T_TYQCLKGTGENYCGNVAVTVSGHTC
2:110065866-110065866 G>A	1.0	1913	MELANOMA	-	-	-	-	SH3RF3	ENST00000309415,p.G690E|uc010ywt.1,p.G690E|ENST00000418513,p.G690E|NM_001099289,p.G690E	protein_coding	uc010ywt.1	nonsynonymous SNV	exon8	c.G2069A	p.G690E	PNVSAANLNGEAGGGPIGVLSTSSP	PNVSAANLNGEAEGGPIGVLSTSSP	6.0	5.0	unscreened	-	1913_2:110065866-110065866 G>A_PNVSAANLNGEAEGGPIGVLSTSSP
7:45216937-45216937 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1698650;OCCURENCE=1(skin)	-	RAMP3	NM_005856,p.E30K|ENST00000496212,p.E30K|uc003tnb.3,p.E30K|ENST00000242249,p.E30K|ENST00000481345,p.E30K	protein_coding	uc003tnb.3	nonsynonymous SNV	exon2	c.G88A	p.E30K	LCGGCPRAGGCNETGMLERLPLCGK	LCGGCPRAGGCNKTGMLERLPLCGK	1.0	6.0	unscreened	-	1913_7:45216937-45216937 G>A_LCGGCPRAGGCNKTGMLERLPLCGK
2:108499140-108499140 G>A	0.0	1913	MELANOMA	-	-	-	-	RGPD4	ENST00000408999,p.E1693K|NM_182588,p.E1693K|uc010ywk.2,p.E1693K|ENST00000354986,p.E1693K|uc002tdu.3,p.E880K	protein_coding	uc010ywk.2	nonsynonymous SNV	exon22	c.G5077A	p.E1693K	AVLMEQIKLLKSEIRRLERNQEQEE	AVLMEQIKLLKSKIRRLERNQEQEE	3.0	6.0	unscreened	-	1913_2:108499140-108499140 G>A_AVLMEQIKLLKSKIRRLERNQEQEE
10:75071596-75071596 C>T	0.0	1913	MELANOMA	-	-	-	-	CFAP70	uc009xrd.1,p.G265E	protein_coding, processed_transcript	uc009xrd.1	nonsynonymous SNV	exon11	c.G794A	p.G265E	LEGEPPLSHNPEGQKTMSLQQYVEA	LEGEPPLSHNPEEQKTMSLQQYVEA	4.0	6.0	unscreened	-	1913_10:75071596-75071596 C>T_LEGEPPLSHNPEEQKTMSLQQYVEA
2:170012798-170012798 C>T	0.0	1913	MELANOMA	-	-	-	-	LRP2	NM_004525,p.R4046Q|ENST00000263816,p.R4046Q|uc002ues.3,p.R4046Q	retained_intron, protein_coding, processed_transcript	uc002ues.3	nonsynonymous SNV	exon65	c.G12137A	p.R4046Q	DGFTSMSDRPGKRCAAEGSSPLLLL	DGFTSMSDRPGKQCAAEGSSPLLLL	1.0	4.0	unscreened	-	1913_2:170012798-170012798 C>T_DGFTSMSDRPGKQCAAEGSSPLLLL
7:157475590-157475590 C>T	0.0	1913	MELANOMA	-	-	-	-	PTPRN2	NM_002847,p.E610K|uc011kwa.2,p.E633K|ENST00000404321,p.E633K|NM_130843,p.E581K|ENST00000389418,p.E610K|uc003wnr.3,p.E572K|ENST00000409483,p.E572K|uc003wno.3,p.E610K|ENST00000389416,p.E593K|uc003wnq.3,p.E581K|NM_130842,p.E593K|uc003wnp.3,p.E593K|ENST00000389413,p.E581K	protein_coding	uc011kwa.2	nonsynonymous SNV	exon13	c.G1897A	p.E633K	SKLKFLPPQAEQEDSTKFIALTLVS	SKLKFLPPQAEQKDSTKFIALTLVS	1.0	5.0	unscreened	-	1913_7:157475590-157475590 C>T_SKLKFLPPQAEQKDSTKFIALTLVS
8:57219253-57219253 A>C	0.0	1913	MELANOMA	-	-	ID=COSM1225038;OCCURENCE=1(large_intestine)	-	SDR16C5	uc010lyl.1,p.F187C|ENST00000303749,p.F231C|uc010lyk.1,p.F231C|NM_138969,p.F231C|uc003xsy.1,p.F231C|ENST00000522671,p.F231C|ENST00000396721,p.F187C	protein_coding	uc010lyl.1	nonsynonymous SNV	exon4	c.T560G	p.F187C	TIVCPFFIKTGMFEGCTTGCPSLLP	TIVCPFFIKTGMCEGCTTGCPSLLP	1.0	3.0	unscreened	-	1913_8:57219253-57219253 A>C_TIVCPFFIKTGMCEGCTTGCPSLLP
8:24773163-24773163 G>A	0.0	1913	MELANOMA	-	-	-	-	NEFM	uc011lac.1,p.E376K|NM_005382,p.E376K|ENST00000437366,p.E376K|ENST00000221166,p.E376K|uc003xed.4,p.E376K|ENST00000518131,p.E376K	protein_coding, processed_transcript	uc011lac.1	nonsynonymous SNV	exon2	c.G1126A	p.E376K	QQLENELRGTKWEMARHLREYQDLL	QQLENELRGTKWKMARHLREYQDLL	1.0	6.0	unscreened	-	1913_8:24773163-24773163 G>A_QQLENELRGTKWKMARHLREYQDLL
14:36004584-36004584 G>A	0.0	1913	MELANOMA	-	-	-	-	INSM2	uc001wth.1,p.D376N|NM_032594,p.D376N|ENST00000307169,p.D376N	protein_coding	uc001wth.1	nonsynonymous SNV	exon1	c.G1126A	p.D376N	DQHPQARDSSGADQHPDSAPRQGLQ	DQHPQARDSSGANQHPDSAPRQGLQ	1.0	2.0	unscreened	-	1913_14:36004584-36004584 G>A_DQHPQARDSSGANQHPDSAPRQGLQ
20:3211980-3211980 G>A	0.0	1913	MELANOMA	-	-	-	-	SLC4A11	NM_032034,p.P331L|NM_001174089,p.P315L|ENST00000380059,p.P358L|uc002wig.3,p.P331L|ENST00000539553,p.P315L|uc010zqf.2,p.P315L|ENST00000380056,p.P331L|NM_001174090,p.P358L|uc010zqe.2,p.P358L	protein_coding, processed_transcript	uc010zqf.2	nonsynonymous SNV	exon8	c.C944T	p.P315L	ERSTVSLPAHRHPEPPKCKDFVPFG	ERSTVSLPAHRHLEPPKCKDFVPFG	2.0	6.0	unscreened	-	1913_20:3211980-3211980 G>A_ERSTVSLPAHRHLEPPKCKDFVPFG
3:38991743-38991743 T>A	0.0	1913	MELANOMA	-	-	-	-	SCN11A	uc021wvy.1,p.K37N|ENST00000456224,p.K37N|NM_014139,p.K37N|ENST00000450244,p.K37N|ENST00000302328,p.K37N|ENST00000444237,p.K37N|NM_001287223,p.K37N	protein_coding	uc021wvy.1	nonsynonymous SNV	exon1	c.A111T	p.K37N	AAIEKRIAIQKEKKKSKDQTGEVPQ	AAIEKRIAIQKENKKSKDQTGEVPQ	1.0	3.0	unscreened	-	1913_3:38991743-38991743 T>A_AAIEKRIAIQKENKKSKDQTGEVPQ
20:3211981-3211981 G>A	0.0	1913	MELANOMA	-	-	-	-	SLC4A11	uc010zqe.2,p.P358S|NM_001174089,p.P315S|uc010zqf.2,p.P315S|NM_001174090,p.P358S|ENST00000380056,p.P331S|NM_032034,p.P331S|ENST00000539553,p.P315S|ENST00000380059,p.P358S|uc002wig.3,p.P331S	protein_coding, processed_transcript	uc010zqf.2	nonsynonymous SNV	exon8	c.C943T	p.P315S	ERSTVSLPAHRHPEPPKCKDFVPFG	ERSTVSLPAHRHSEPPKCKDFVPFG	2.0	6.0	unscreened	-	1913_20:3211981-3211981 G>A_ERSTVSLPAHRHSEPPKCKDFVPFG
7:72744354-72744354 C>T	0.0	1913	MELANOMA	-	-	-	-	FKBP6	ENST00000413573,p.A126V|NM_003602,p.A156V|ENST00000431982,p.A151V|uc011kew.1,p.A151V|NM_001281304,p.A126V|uc003tya.2,p.A156V|ENST00000429879,p.A156V|ENST00000252037,p.A156V|NM_001135211,p.A151V	retained_intron, protein_coding, nonsense_mediated_decay	uc011kew.1	nonsynonymous SNV	exon4	c.C452T	p.A151V	DCAESDKFCALSAEQQDQFPLQKVL	DCAESDKFCALSVEQQDQFPLQKVL	4.0	5.0	unscreened	-	1913_7:72744354-72744354 C>T_DCAESDKFCALSVEQQDQFPLQKVL
2:42990116-42990116 C>T	0.0	1913	MELANOMA	-	-	-	-	OXER1	ENST00000378661,p.E402K|NM_148962,p.E402K|uc002rss.3,p.E402K	protein_coding	uc002rss.3	nonsynonymous SNV	exon1	c.G1204A	p.E402K	RQWRYREASRKAEAIGKLKVQGEVS	RQWRYREASRKAKAIGKLKVQGEVS	1.0	6.0	unscreened	-	1913_2:42990116-42990116 C>T_RQWRYREASRKAKAIGKLKVQGEVS
2:179477782-179477782 C>T	0.0	1913	MELANOMA	-	-	-	-	TTN	uc031rqc.1,p.G16556R|NM_133437,p.G7683R|ENST00000460472,p.G7491R|NM_133378,p.G13988R|uc021vsy.2,p.G13988R|NM_001267550,p.G16556R|NM_001256850,p.G14915R|uc021vta.2,p.G7616R|NM_003319,p.G7491R|ENST00000342175,p.G7683R|uc021vtb.2,p.G7491R|ENST00000342992,p.G13988R|ENST00000591111,p.G14915R|ENST00000589042,p.G16556R|uc031rqd.1,p.G14915R|NM_133432,p.G7616R|uc021vsz.2,p.G7683R|ENST00000359218,p.G7616R	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon215	c.G44743A	p.G14915R	LIKDPIDPPWPPGKPTVKDVGKTSV	LIKDPIDPPWPPRKPTVKDVGKTSV	2.0	4.0	unscreened	-	1913_2:179477782-179477782 C>T_LIKDPIDPPWPPRKPTVKDVGKTSV
3:38936269-38936269 G>A	0.0	1913	MELANOMA	-	-	-	-	SCN11A	ENST00000450244,p.P864S|NM_014139,p.P864S|ENST00000456224,p.P864S|uc021wvy.1,p.P864S|ENST00000444237,p.P864S|ENST00000302328,p.P864S|NM_001287223,p.P864S	protein_coding	uc021wvy.1	nonsynonymous SNV	exon15	c.C2590T	p.P864S	HFCHKWCRKQNLPQQKEVAGGCAAQ	HFCHKWCRKQNLSQQKEVAGGCAAQ	1.0	7.0	unscreened	-	1913_3:38936269-38936269 G>A_HFCHKWCRKQNLSQQKEVAGGCAAQ
3:38991742-38991742 T>C	0.0	1913	MELANOMA	-	-	-	-	SCN11A	NM_014139,p.K38E|ENST00000450244,p.K38E|ENST00000302328,p.K38E|uc021wvy.1,p.K38E|ENST00000456224,p.K38E|NM_001287223,p.K38E|ENST00000444237,p.K38E	protein_coding	uc021wvy.1	nonsynonymous SNV	exon1	c.A112G	p.K38E	AIEKRIAIQKEKKKSKDQTGEVPQP	AIEKRIAIQKEKEKSKDQTGEVPQP	1.0	3.0	unscreened	-	1913_3:38991742-38991742 T>C_AIEKRIAIQKEKEKSKDQTGEVPQP
7:134261135-134261135 C>T	0.0	1913	MELANOMA	-	-	-	-	AKR1B15	ENST00000457545,p.P260S|uc011kpr.2,p.P260S|ENST00000423958,p.P232S|NM_001080538,p.P260S	retained_intron, protein_coding	uc011kpr.2	nonsynonymous SNV	exon9	c.C778T	p.P260S	WAKPEDPSLLEDPKIKEIAAKHKKT	WAKPEDPSLLEDSKIKEIAAKHKKT	1.0	4.0	unscreened	-	1913_7:134261135-134261135 C>T_WAKPEDPSLLEDSKIKEIAAKHKKT
10:21250674-21250674 C>A	0.0	1913	MELANOMA	-	-	-	-	NEBL	uc001iqk.3,p.G95V|uc021pnu.1,p.G95V|NM_001173484,p.G95V|ENST00000377159,p.G61V|ENST00000417816,p.G95V|NM_213569,p.G95V	retained_intron, protein_coding, processed_transcript	uc021pnu.1	nonsynonymous SNV	exon4	c.G284T	p.G95V	QVKYKRDFEESKGRGFSIVTDTPEL	QVKYKRDFEESKVRGFSIVTDTPEL	1.0	4.0	unscreened	-	1913_10:21250674-21250674 C>A_QVKYKRDFEESKVRGFSIVTDTPEL
8:77767609-77767609 G>A	0.0	1913	MELANOMA	-	-	-	-	ZFHX4	uc003yaw.1,p.E2773K|uc003yau.2,p.E2818K|ENST00000455469,p.E2773K|ENST00000518282,p.E2792K|ENST00000050961,p.E2773K|NM_024721,p.E2818K|ENST00000521891,p.E2818K	retained_intron, protein_coding, nonsense_mediated_decay	uc003yaw.1	nonsynonymous SNV	exon9	c.G8317A	p.E2773K	INTAISDATTGDEGNTEMESTTGSS	INTAISDATTGDKGNTEMESTTGSS	1.0	5.0	unscreened	-	1913_8:77767609-77767609 G>A_INTAISDATTGDKGNTEMESTTGSS
8:86386012-86386012 C>T	0.0	1913	MELANOMA	-	-	-	-	CA2	ENST00000285379,p.T108I|NM_000067,p.T108I|uc003ydk.2,p.T108I	retained_intron, protein_coding, nonsense_mediated_decay	uc003ydk.2	nonsynonymous SNV	exon3	c.C323T	p.T108I	HWGSLDGQGSEHTVDKKKYAAELHL	HWGSLDGQGSEHIVDKKKYAAELHL	3.0	4.0	unscreened	-	1913_8:86386012-86386012 C>T_HWGSLDGQGSEHIVDKKKYAAELHL
22:21133740-21133740 A>G	0.0	1913	MELANOMA	-	-	-	-	SERPIND1	NM_000185,p.N47S|ENST00000215727,p.N47S|ENST00000406799,p.N47S|uc002ztb.1,p.N47S|uc002ztc.2,p.N75S	protein_coding	uc002ztc.2	nonsynonymous SNV	exon1	c.A224G	p.N75S	AQSADPQWEQLNNKNLSMPLLPADF	AQSADPQWEQLNSKNLSMPLLPADF	1.0	6.0	unscreened	-	1913_22:21133740-21133740 A>G_AQSADPQWEQLNSKNLSMPLLPADF
6:88757801-88757801 G>A	0.0	1913	MELANOMA	-	-	-	-	SPACA1	NM_030960,p.E60K|uc003pmn.3,p.E60K|ENST00000237201,p.E60K	protein_coding, processed_transcript	uc003pmn.3	nonsynonymous SNV	exon1	c.G178A	p.E60K	EEETENNDSETAENYAPPETEDVSN	EEETENNDSETAKNYAPPETEDVSN	1.0	3.0	unscreened	-	1913_6:88757801-88757801 G>A_EEETENNDSETAKNYAPPETEDVSN
10:107022146-107022146 G>A	0.0	1913	MELANOMA	-	-	ID=COSM138782;OCCURENCE=1(skin)	-	SORCS3	uc001kyi.1,p.M1167I|ENST00000369701,p.M1167I|NM_014978,p.M1167I	protein_coding	uc001kyi.1	nonsynonymous SNV	exon26	c.G3501A	p.M1167I	IYAQVQHDKEQEMIGSVSQSENAPK	IYAQVQHDKEQEIIGSVSQSENAPK	1.0	5.0	unscreened	-	1913_10:107022146-107022146 G>A_IYAQVQHDKEQEIIGSVSQSENAPK
6:30954919-30954919 A>G	0.0	1913	MELANOMA	-	-	-	-	MUC21	uc003nsh.2,p.T323A|NM_001010909,p.T323A|ENST00000376296,p.T323A|uc021yuf.1,p.T307A	protein_coding	uc021yuf.1	nonsynonymous SNV	exon1	c.A919G	p.T307A	GANTATNSDSSTTSSGASTATNSES	GANTATNSDSSTASSGASTATNSES	1.0	7.0	unscreened	-	1913_6:30954919-30954919 A>G_GANTATNSDSSTASSGASTATNSES
12:21422553-21422553 C>T	0.0	1913	MELANOMA	0.0009	-	-	-	SLCO1A2	NM_134431,p.E648K|NM_021094,p.E648K|uc010siq.2,p.E516K|ENST00000307378,p.E648K|ENST00000537524,p.E516K|ENST00000452078,p.E648K|uc010sip.2,p.E516K|uc001res.3,p.E648K|ENST00000458504,p.E516K|uc010sio.2,p.E516K|uc001rer.3,p.E648K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010siq.2	nonsynonymous SNV	exon14	c.G1546A	p.E516K	GTELIETKVKGKENECKDIYQKSTV	GTELIETKVKGKKNECKDIYQKSTV	1.0	6.0	unscreened	-	1913_12:21422553-21422553 C>T_GTELIETKVKGKKNECKDIYQKSTV
2:179439599-179439599 C>T	1.0	1913	MELANOMA	-	-	-	-	TTN	ENST00000591111,p.D22113N|NM_003319,p.D14689N|ENST00000342992,p.D21186N|uc031rqc.1,p.D23754N|uc021vtb.2,p.D14689N|ENST00000359218,p.D14814N|ENST00000460472,p.D14689N|uc021vsz.2,p.D14881N|NM_001256850,p.D22113N|ENST00000589042,p.D23754N|uc021vta.2,p.D14814N|NM_001267550,p.D23754N|uc031rqd.1,p.D22113N|NM_133437,p.D14881N|NM_133378,p.D21186N|ENST00000342175,p.D14881N|uc021vsy.2,p.D21186N|NM_133432,p.D14814N	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon276	c.G66337A	p.D22113N	DFVTFSWDPPENDGGVPISNYVVEM	DFVTFSWDPPENNGGVPISNYVVEM	2.0	5.0	unscreened	-	1913_2:179439599-179439599 C>T_DFVTFSWDPPENNGGVPISNYVVEM
2:51254765-51254765 G>A	0.0	1913	MELANOMA	-	-	-	-	NRXN1	uc021vhk.1,p.P216L|ENST00000405581,p.P216L|uc021vhh.1,p.P216L|NM_004801,p.P216L|ENST00000401669,p.P216L|ENST00000404971,p.P216L|uc021vhi.1,p.P216L|NM_001135659,p.P216L|ENST00000406859,p.P216L|ENST00000405472,p.P216L|ENST00000406316,p.P216L|ENST00000402717,p.P216L|uc021vhj.1,p.P216L|uc021vhg.1,p.P216L	retained_intron, protein_coding, processed_transcript	uc021vhk.1	nonsynonymous SNV	exon2	c.C647T	p.P216L	LDDEPPNSGGGSPCEAGEEGEGGVC	LDDEPPNSGGGSLCEAGEEGEGGVC	1.0	3.0	unscreened	-	1913_2:51254765-51254765 G>A_LDDEPPNSGGGSLCEAGEEGEGGVC
19:38881064-38881064 G>A	0.0	1913	MELANOMA	-	-	-	-	SPRED3	ENST00000586301,p.G41E|ENST00000338502,p.G41E|uc002oim.4,p.G41E|ENST00000587947,p.G41E|uc002oil.2,p.G41E|NM_001042522,p.G41E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002oim.4	nonsynonymous SNV	exon1	c.G122A	p.G41E	VSVCRVRGARPEGGARQGHYVIHGE	VSVCRVRGARPEEGARQGHYVIHGE	5.0	4.0	unscreened	-	1913_19:38881064-38881064 G>A_VSVCRVRGARPEEGARQGHYVIHGE
19:54308622-54308622 C>T	0.0	1913	MELANOMA	-	-	-	-	NLRP12	ENST00000391772,p.D777N|ENST00000535162,p.D776N|NM_001277126,p.D777N|uc002qch.5,p.D776N|ENST00000354278,p.D776N|NM_001277129,p.D776N|uc010eqx.4,p.D777N|ENST00000391773,p.D777N|NM_144687,p.D776N|ENST00000351894,p.D776N|uc002qcj.5,p.D777N|uc002qci.5,p.D776N|ENST00000391775,p.D776N|ENST00000324134,p.D776N|ENST00000345770,p.D777N|uc010eqw.4,p.D59N	retained_intron, protein_coding	uc010eqx.4	nonsynonymous SNV	exon5	c.G2329A	p.D777N	AALIANKNLTRMDLSGNGVGFPGMM	AALIANKNLTRMNLSGNGVGFPGMM	1.0	5.0	unscreened	-	1913_19:54308622-54308622 C>T_AALIANKNLTRMNLSGNGVGFPGMM
7:136700756-136700756 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1699395;OCCURENCE=1(skin)	-	CHRM2	uc003vtk.1,p.E382K|ENST00000453373,p.E382K|NM_001006628,p.E382K|uc003vtf.1,p.E382K|NM_001006632,p.E382K|ENST00000402486,p.E382K|ENST00000397608,p.E382K|uc003vtl.1,p.E382K|ENST00000445907,p.E382K|uc003vto.1,p.E382K|NM_001006630,p.E382K|uc022ame.1,p.E382K|ENST00000401861,p.E382K|NM_001006627,p.E382K|NM_001006631,p.E382K|NM_001006626,p.E382K|uc003vtj.1,p.E382K|NM_001006629,p.E382K|ENST00000320658,p.E382K|uc003vtn.1,p.E382K|NM_000739,p.E382K|uc003vtm.1,p.E382K|uc003vti.1,p.E382K|uc003vtg.1,p.E382K	protein_coding, processed_transcript	uc022ame.1	nonsynonymous SNV	exon1	c.G1144A	p.E382K	KQPAKKKPPPSREKKVTRTILAILL	KQPAKKKPPPSRKKKVTRTILAILL	1.0	4.0	unscreened	-	1913_7:136700756-136700756 G>A_KQPAKKKPPPSRKKKVTRTILAILL
17:45822493-45822493 G>A	0.0	1913	MELANOMA	-	-	-	-	TBX21	uc002ilv.1,p.E457K|ENST00000177694,p.E457K|NM_013351,p.E457K	retained_intron, protein_coding	uc002ilv.1	nonsynonymous SNV	exon6	c.G1369A	p.E457K	ASWFRPMRTLPMEPGPGGSEGRGPE	ASWFRPMRTLPMKPGPGGSEGRGPE	2.0	4.0	unscreened	-	1913_17:45822493-45822493 G>A_ASWFRPMRTLPMKPGPGGSEGRGPE
2:238280612-238280612 C>T	0.0	1913	MELANOMA	-	-	-	-	COL6A3	NM_004369,p.D1350N|ENST00000409809,p.D1144N|ENST00000295550,p.D1350N|ENST00000392004,p.D1144N|ENST00000392003,p.D943N|uc002vwq.3,p.D1144N|ENST00000472056,p.D743N|NM_057165,p.D1144N|NM_057164,p.D943N|ENST00000347401,p.D1149N|NM_057167,p.D1144N|uc002vwl.2,p.D1350N|ENST00000353578,p.D1144N|ENST00000346358,p.D1150N|uc002vwo.2,p.D1144N|uc010znj.1,p.D743N|uc002vwr.3,p.D943N|NM_057166,p.D743N	retained_intron, protein_coding, processed_transcript	uc010znj.1	nonsynonymous SNV	exon6	c.G2227A	p.D743N	QFLVLISSGKSDDEVDDPAVELKQF	QFLVLISSGKSDNEVDDPAVELKQF	1.0	4.0	unscreened	-	1913_2:238280612-238280612 C>T_QFLVLISSGKSDNEVDDPAVELKQF
8:9592403-9592403 G>A	1.0	1913	MELANOMA	-	-	-	-	TNKS	NM_003747,p.R781K|uc011kww.2,p.R544K|ENST00000310430,p.R781K|ENST00000518281,p.R544K|uc003wss.3,p.R781K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kww.2	nonsynonymous SNV	exon16	c.G1631A	p.R544K	LLKHGADPTKKNRDGNTPLDLVKEG	LLKHGADPTKKNKDGNTPLDLVKEG	8.0	4.0	unscreened	-	1913_8:9592403-9592403 G>A_LLKHGADPTKKNKDGNTPLDLVKEG
20:47990547-47990547 G>A	0.0	1913	MELANOMA	-	-	-	-	KCNB1	NM_004975,p.S517L|uc002xur.1,p.S517L|uc002xus.1,p.S517L|ENST00000371741,p.S517L	protein_coding	uc002xus.1	nonsynonymous SNV	exon3	c.C1550T	p.S517L	ETKEQGSPEKARSSSSPQHLNVQQL	ETKEQGSPEKARLSSSPQHLNVQQL	2.0	5.0	unscreened	-	1913_20:47990547-47990547 G>A_ETKEQGSPEKARLSSSPQHLNVQQL
7:43484530-43484530 G>A	0.0	1913	MELANOMA	-	-	-	-	HECW1	ENST00000395891,p.E587K|NM_001287059,p.E587K|uc003tid.1,p.E587K|uc011kbi.1,p.E587K|NM_015052,p.E587K|ENST00000453890,p.E587K	protein_coding, processed_transcript	uc011kbi.1	nonsynonymous SNV	exon10	c.G1759A	p.E587K	GGSAAEEEDGAEEESTLKDSSEKDG	GGSAAEEEDGAEKESTLKDSSEKDG	1.0	4.0	unscreened	-	1913_7:43484530-43484530 G>A_GGSAAEEEDGAEKESTLKDSSEKDG
8:105361805-105361805 G>A	0.0	1913	MELANOMA	-	-	-	-	DCSTAMP	ENST00000297581,p.G342E|NM_030788,p.G342E|uc003ylx.2,p.G342E	protein_coding, processed_transcript	uc003ylx.2	nonsynonymous SNV	exon2	c.G1025A	p.G342E	SLPGFEVHLKLHGEKQGTQDIIHDS	SLPGFEVHLKLHEEKQGTQDIIHDS	1.0	6.0	unscreened	-	1913_8:105361805-105361805 G>A_SLPGFEVHLKLHEEKQGTQDIIHDS
2:152501044-152501044 C>T	0.0	1913	MELANOMA	-	-	-	-	NEB	NM_001271208,p.D2528N|uc021vrc.1,p.D2528N|NM_001164507,p.D2528N|uc021vrb.1,p.D2528N|NM_004543,p.D2528N|ENST00000604864,p.D2528N|ENST00000603639,p.D2528N|ENST00000427231,p.D2528N|ENST00000409198,p.D2528N|uc031rpp.1,p.D2528N|ENST00000397345,p.D2528N|ENST00000172853,p.D2528N|uc010fnx.3,p.D2528N|NM_001164508,p.D2528N|uc002txu.3,p.D2528N|uc021vrd.1,p.D2528N	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon56	c.G7582A	p.D2528N	RMGYEELKRKGYDLPVDAIPIKAAK	RMGYEELKRKGYNLPVDAIPIKAAK	5.0	6.0	unscreened	-	1913_2:152501044-152501044 C>T_RMGYEELKRKGYNLPVDAIPIKAAK
2:109524387-109524387 G>A	0.0	1913	MELANOMA	-	-	-	-	EDAR	uc010yws.2,p.P330S|ENST00000258443,p.P298S|ENST00000376651,p.P330S|ENST00000409271,p.P330S|uc010fjn.3,p.P330S|uc002teq.4,p.P298S|NM_022336,p.P298S	protein_coding	uc010yws.2	nonsynonymous SNV	exon9	c.C988T	p.P330S	SDEEPAPDKQGSPELCLLSLVHLAR	SDEEPAPDKQGSSELCLLSLVHLAR	1.0	5.0	unscreened	-	1913_2:109524387-109524387 G>A_SDEEPAPDKQGSSELCLLSLVHLAR
7:117243599-117243599 G>A	0.0	1913	MELANOMA	-	-	-	-	CFTR	ENST00000003084,p.D891N|ENST00000454343,p.D830N|uc003vjd.3,p.D891N|uc011knq.2,p.D297N|ENST00000426809,p.D861N|NM_000492,p.D891N	protein_coding, processed_transcript, nonsense_mediated_decay	uc011knq.2	nonsynonymous SNV	exon17	c.G889A	p.D297N	VVLWLLGNTPLQDKGNSTHSRNNSY	VVLWLLGNTPLQNKGNSTHSRNNSY	1.0	6.0	unscreened	-	1913_7:117243599-117243599 G>A_VVLWLLGNTPLQNKGNSTHSRNNSY
1:207087142-207087142 C>T	0.0	1913	MELANOMA	0.0005	-	-	-	FAIM3	NM_001193338,p.R112Q|ENST00000420007,p.R112Q|ENST00000529560,p.R112Q|ENST00000525793,p.R112Q|uc001hey.3,p.R112Q|NM_005449,p.R112Q|ENST00000367091,p.R112Q|uc021pif.1,p.R112Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pif.1	nonsynonymous SNV	exon2	c.G335A	p.R112Q	GVYACGAGMNTDRGKTQKVTLNVHS	GVYACGAGMNTDQGKTQKVTLNVHS	4.0	7.0	unscreened	-	1913_1:207087142-207087142 C>T_GVYACGAGMNTDQGKTQKVTLNVHS
8:52370208-52370208 C>T	0.0	1913	MELANOMA	-	-	-	-	PXDNL	ENST00000356297,p.D278N|ENST00000543296,p.D278N|NM_144651,p.D278N|uc003xqu.4,p.D278N	retained_intron, protein_coding, nonsense_mediated_decay	uc003xqu.4	nonsynonymous SNV	exon9	c.G832A	p.D278N	IWIHNNHSLDLEDDTRLNVFDDGTL	IWIHNNHSLDLENDTRLNVFDDGTL	1.0	5.0	unscreened	-	1913_8:52370208-52370208 C>T_IWIHNNHSLDLENDTRLNVFDDGTL
8:121301974-121301974 G>A	1.0	1913	MELANOMA	-	-	ID=COSM232059;OCCURENCE=1(kidney),1(skin)	-	COL14A1	uc003yoz.3,p.R367Q|uc003yox.4,p.R1402Q|ENST00000297848,p.R1402Q|ENST00000309791,p.R1402Q|NM_021110,p.R1402Q|ENST00000247781,p.R1307Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc003yoz.3	nonsynonymous SNV	exon9	c.G1100A	p.R367Q	TSDGVEVLGKMVRSRGPGGNSAPFQ	TSDGVEVLGKMVQSRGPGGNSAPFQ	6.0	5.0	unscreened	-	1913_8:121301974-121301974 G>A_TSDGVEVLGKMVQSRGPGGNSAPFQ
2:79314026-79314026 G>A	0.0	1913	MELANOMA	-	-	-	-	REG1B	uc010ffv.1,p.P32L|ENST00000305089,p.P32L|uc002sny.2,p.P32L|NM_006507,p.P32L|uc010ffw.3,p.P32L	retained_intron, protein_coding	uc010ffw.3	nonsynonymous SNV	exon3	c.C95T	p.P32L	SQGQESQTELPNPRISCPEGTNAYR	SQGQESQTELPNLRISCPEGTNAYR	1.0	5.0	unscreened	-	1913_2:79314026-79314026 G>A_SQGQESQTELPNLRISCPEGTNAYR
18:6080908-6080908 T>A	0.0	1913	MELANOMA	-	-	-	-	L3MBTL4	ENST00000535782,p.E285D|uc002kmy.4,p.E472D|ENST00000317931,p.E472D	protein_coding, processed_transcript	uc002kmy.4	nonsynonymous SNV	exon14	c.A1416T	p.E472D	VQQAKCLKIKGKEDIDLDNLFREYS	VQQAKCLKIKGKDDIDLDNLFREYS	2.0	6.0	unscreened	-	1913_18:6080908-6080908 T>A_VQQAKCLKIKGKDDIDLDNLFREYS
20:51870470-51870470 G>A	0.0	1913	MELANOMA	-	-	ID=COSM3547835;OCCURENCE=1(large_intestine)	-	TSHZ2	uc021wex.1,p.R155Q|NM_173485,p.R158Q|ENST00000329613,p.R155Q|ENST00000603338,p.R155Q|ENST00000371497,p.R158Q|NM_001193421,p.R155Q|uc002xwo.3,p.R158Q	protein_coding, processed_transcript	uc021wex.1	nonsynonymous SNV	exon2	c.G464A	p.R155Q	KLSNSERRNCDTRNGSNKSDFDWHQ	KLSNSERRNCDTQNGSNKSDFDWHQ	1.0	5.0	unscreened	-	1913_20:51870470-51870470 G>A_KLSNSERRNCDTQNGSNKSDFDWHQ
2:113785485-113785485 C>T	0.0	1913	MELANOMA	0.0014	-	-	-	IL36B	NM_173178,p.E157K|uc002tir.1,p.E157K|ENST00000327407,p.E157K	protein_coding	uc002tir.1	nonsynonymous SNV	exon5	c.G469A	p.E157K	ITNNTNFYLDSVE	ITNNTNFYLDSVK	1.0	7.0	unscreened	-	1913_2:113785485-113785485 C>T_ITNNTNFYLDSVK
20:33875416-33875416 C>T	0.0	1913	MELANOMA	-	-	-	-	FAM83C	NM_178468,p.S389N|uc021wck.1,p.S389N|ENST00000374408,p.S389N	protein_coding	uc021wck.1	nonsynonymous SNV	exon4	c.G1166A	p.S389N	VSSSLGPARREASGQPSLHRQLSDP	VSSSLGPARREANGQPSLHRQLSDP	1.0	6.0	unscreened	-	1913_20:33875416-33875416 C>T_VSSSLGPARREANGQPSLHRQLSDP
5:101815893-101815893 C>T	0.0	1913	MELANOMA	-	-	-	-	SLCO6A1	uc003knq.3,p.V202I|ENST00000389019,p.V202I|NM_001289004,p.V202I|ENST00000379810,p.V202I|uc003kno.3,p.V202I|ENST00000513675,p.V202I	retained_intron, protein_coding, processed_transcript	uc003knq.3	nonsynonymous SNV	exon2	c.G604A	p.V202I	FPSINEENKQSKVGIEGIAECTSMI	FPSINEENKQSKIGIEGIAECTSMI	1.0	6.0	unscreened	-	1913_5:101815893-101815893 C>T_FPSINEENKQSKIGIEGIAECTSMI
2:207173567-207173567 C>T	0.0	1913	MELANOMA	-	-	-	-	ZDBF2	NM_020923,p.H1439Y|NM_001285549,p.H1437Y|ENST00000374423,p.H1439Y|uc031rqy.1,p.H1437Y|uc002vbp.2,p.H1439Y	protein_coding	uc031rqy.1	nonsynonymous SNV	exon7	c.C4309T	p.H1437Y	VPVKEINLQKKDHNDLENKNCEVCG	VPVKEINLQKKDYNDLENKNCEVCG	1.0	7.0	unscreened	-	1913_2:207173567-207173567 C>T_VPVKEINLQKKDYNDLENKNCEVCG
10:75071596-75071596 C>T	0.0	1913	MELANOMA	-	-	-	-	CFAP70	ENST00000394865,p.G457E|ENST00000310715,p.G457E|uc009xrc.3,p.G457E|uc001jty.3,p.G457E|NM_145170,p.G457E|ENST00000401621,p.G457E	protein_coding, processed_transcript	uc009xrc.3	nonsynonymous SNV	exon12	c.G1370A	p.G457E	LEGEPPLSHNPEGQQYVEAGTYIVL	LEGEPPLSHNPEEQQYVEAGTYIVL	4.0	6.0	unscreened	-	1913_10:75071596-75071596 C>T_LEGEPPLSHNPEEQQYVEAGTYIVL
10:75407927-75407927 C>T	0.0	1913	MELANOMA	0.0009	-	-	-	SYNPO2L	ENST00000394810,p.A495T|NM_001114133,p.A495T|uc001jus.4,p.A271T|uc001jut.4,p.A495T|ENST00000372873,p.A271T|NM_024875,p.A271T|ENST00000372872,p.A495T	protein_coding	uc001jut.4	nonsynonymous SNV	exon4	c.G1483A	p.A495T	TSVIFRPLAPKRANDSLGGLSPAPP	TSVIFRPLAPKRTNDSLGGLSPAPP	1.0	4.0	unscreened	-	1913_10:75407927-75407927 C>T_TSVIFRPLAPKRTNDSLGGLSPAPP
8:70744679-70744679 T>G	0.0	1913	MELANOMA	-	-	-	-	SLCO5A1	uc010lzb.3,p.N77T|ENST00000526750,p.N77T|ENST00000260126,p.N77T|NM_001146008,p.N77T|uc003xyk.3,p.N77T|uc010lzc.2,p.N77T|NM_001146009,p.N77T|ENST00000530307,p.N77T|uc003xyl.3,p.N77T|NM_030958,p.N77T|ENST00000524945,p.N77T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lzc.2	nonsynonymous SNV	exon2	c.A230C	p.N77T	DSSGHQELKQGPNPLAPSPSAPSTS	DSSGHQELKQGPTPLAPSPSAPSTS	1.0	7.0	unscreened	-	1913_8:70744679-70744679 T>G_DSSGHQELKQGPTPLAPSPSAPSTS
18:6080908-6080908 T>A	0.0	1913	MELANOMA	-	-	-	-	L3MBTL4	ENST00000400105,p.E472D|NM_173464,p.E472D|uc010dkt.3,p.E472D|uc002kmz.4,p.E472D|ENST00000284898,p.E472D	protein_coding, processed_transcript	uc010dkt.3	nonsynonymous SNV	exon16	c.A1416T	p.E472D	VQQAKCLKIKGKEDIDLDNLFRVLV	VQQAKCLKIKGKDDIDLDNLFRVLV	2.0	6.0	unscreened	-	1913_18:6080908-6080908 T>A_VQQAKCLKIKGKDDIDLDNLFRVLV
7:113522114-113522114 C>T	0.0	1913	MELANOMA	-	-	-	-	PPP1R3A	NM_002711,p.E316K|ENST00000284601,p.E316K|uc010ljy.1,p.E316K	protein_coding, nonsense_mediated_decay	uc010ljy.1	nonsynonymous SNV	exon3	c.G946A	p.E316K	VKDVNREHDEHNEKELELMINQHLI	VKDVNREHDEHNKKELELMINQHLI	1.0	4.0	unscreened	-	1913_7:113522114-113522114 C>T_VKDVNREHDEHNKKELELMINQHLI
2:116066825-116066825 G>A	0.0	1913	MELANOMA	-	-	-	-	DPP10	NM_001178037,p.S20N|ENST00000393146,p.S20N|uc002tlc.2,p.S20N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tlc.2	nonsynonymous SNV	exon2	c.G59A	p.S20N	EGPVDGSEKELGSNSPPQRNWKGIA	EGPVDGSEKELGNNSPPQRNWKGIA	1.0	7.0	unscreened	-	1913_2:116066825-116066825 G>A_EGPVDGSEKELGNNSPPQRNWKGIA
2:116066825-116066825 G>A	0.0	1913	MELANOMA	-	-	-	-	DPP10	uc002tle.3,p.S28N|ENST00000393147,p.S28N|NM_001178034,p.S28N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tle.3	nonsynonymous SNV	exon2	c.G83A	p.S28N	ASQAQPADQELGSNSPPQRNWKGIA	ASQAQPADQELGNNSPPQRNWKGIA	1.0	7.0	unscreened	-	1913_2:116066825-116066825 G>A_ASQAQPADQELGNNSPPQRNWKGIA
19:4037811-4037811 G>A	1.0	1913	MELANOMA	-	-	-	-	PIAS4	ENST00000262971,p.E491K|uc002lzg.3,p.E491K|NM_015897,p.E491K	retained_intron, protein_coding, processed_transcript	uc002lzg.3	nonsynonymous SNV	exon11	c.G1471A	p.E491K	EEEEEEEEEDEDEEGPRPKRRCPFQ	EEEEEEEEEDEDKEGPRPKRRCPFQ	7.0	6.0	unscreened	-	1913_19:4037811-4037811 G>A_EEEEEEEEEDEDKEGPRPKRRCPFQ
5:101815893-101815893 C>T	0.0	1913	MELANOMA	-	-	-	-	SLCO6A1	uc003knp.3,p.V202I|uc003knn.3,p.V202I|NM_001289002,p.V202I|NM_173488,p.V202I|ENST00000379807,p.V202I|ENST00000506729,p.V202I	retained_intron, protein_coding, processed_transcript	uc003knp.3	nonsynonymous SNV	exon2	c.G604A	p.V202I	FPSINEENKQSKVGIEDICEEIKVV	FPSINEENKQSKIGIEDICEEIKVV	1.0	6.0	unscreened	-	1913_5:101815893-101815893 C>T_FPSINEENKQSKIGIEDICEEIKVV
18:6080908-6080908 T>A	0.0	1913	MELANOMA	-	-	-	-	L3MBTL4	ENST00000400104,p.E472D	protein_coding, processed_transcript	ENST00000400104	nonsynonymous SNV	exon16	c.A1416T	p.E472D	VQQAKCLKIKGKEDIDLDNLFRGRV	VQQAKCLKIKGKDDIDLDNLFRGRV	2.0	6.0	unscreened	-	1913_18:6080908-6080908 T>A_VQQAKCLKIKGKDDIDLDNLFRGRV
17:10298550-10298550 A>G	0.0	1913	MELANOMA	-	-	-	-	MYH8	NM_002472,p.M1621T|ENST00000403437,p.M1621T|uc002gmm.2,p.M1621T	protein_coding	uc002gmm.2	nonsynonymous SNV	exon34	c.T4862C	p.M1621T	RSRNDALRVKKKMEGDLNEMEIQLN	RSRNDALRVKKKTEGDLNEMEIQLN	1.0	6.0	unscreened	-	1913_17:10298550-10298550 A>G_RSRNDALRVKKKTEGDLNEMEIQLN
3:183862720-183862720 G>A	1.0	1913	MELANOMA	-	-	ID=COSM3846872;OCCURENCE=1(breast)	-	EIF2B5	ENST00000273783,p.E719K|uc003fmq.3,p.E440K|NM_003907,p.E719K|uc003fmp.3,p.E719K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003fmq.3	nonsynonymous SNV	exon15	c.G1318A	p.E440K	IQWLKEAEEESSEDD	IQWLKEAEEESSKDD	9.0	6.0	unscreened	-	1913_3:183862720-183862720 G>A_IQWLKEAEEESSKDD
2:116066825-116066825 G>A	0.0	1913	MELANOMA	-	-	-	-	DPP10	ENST00000310323,p.S17N|uc002tlf.2,p.S17N|NM_001004360,p.S17N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tlf.2	nonsynonymous SNV	exon2	c.G50A	p.S17N	ESRGEGGREELGSNSPPQRNWKGIA	ESRGEGGREELGNNSPPQRNWKGIA	1.0	7.0	unscreened	-	1913_2:116066825-116066825 G>A_ESRGEGGREELGNNSPPQRNWKGIA
2:116066825-116066825 G>A	0.0	1913	MELANOMA	-	-	-	-	DPP10	uc002tla.2,p.S24N|ENST00000410059,p.S24N|NM_020868,p.S24N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tla.2	nonsynonymous SNV	exon2	c.G71A	p.S24N	KCQPSKTIKELGSNSPPQRNWKGIA	KCQPSKTIKELGNNSPPQRNWKGIA	1.0	7.0	unscreened	-	1913_2:116066825-116066825 G>A_KCQPSKTIKELGNNSPPQRNWKGIA
7:48563892-48563892 T>A	0.0	1913	MELANOMA	-	-	-	-	ABCA13	uc010kys.2,p.D2382E|uc031sxg.1,p.D2382E|uc031sxh.1,p.D2351E|uc010kyu.1,p.D430E|ENST00000411975,p.D473E|uc003toq.2,p.D4700E|NM_152701,p.D4700E|ENST00000435803,p.D4700E|ENST00000544596,p.D430E	retained_intron, protein_coding, nonsense_mediated_decay	uc031sxh.1	nonsynonymous SNV	exon37	c.T7053A	p.D2351E	TLQGTVKSSKDTDVEKEEKRVFEGR	TLQGTVKSSKDTEVEKEEKRVFEGR	3.0	6.0	unscreened	-	1913_7:48563892-48563892 T>A_TLQGTVKSSKDTEVEKEEKRVFEGR
2:179441478-179441478 C>T	0.0	1913	MELANOMA	-	-	-	-	TTN	ENST00000342175,p.D14292N|NM_001256850,p.D21524N|uc021vsy.2,p.D20597N|ENST00000460472,p.D14100N|ENST00000359218,p.D14225N|NM_003319,p.D14100N|uc021vsz.2,p.D14292N|uc031rqc.1,p.D23165N|ENST00000589042,p.D23165N|NM_133432,p.D14225N|NM_001267550,p.D23165N|ENST00000342992,p.D20597N|uc031rqd.1,p.D21524N|NM_133437,p.D14292N|uc021vtb.2,p.D14100N|NM_133378,p.D20597N|ENST00000591111,p.D21524N|uc021vta.2,p.D14225N	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon275	c.G64570A	p.D21524N	KNTATVSWKRPVDDGGSEITGYHVE	KNTATVSWKRPVNDGGSEITGYHVE	2.0	6.0	unscreened	-	1913_2:179441478-179441478 C>T_KNTATVSWKRPVNDGGSEITGYHVE
20:23433273-23433273 C>T	0.0	1913	MELANOMA	-	-	-	-	CST11	uc002wtf.1,p.S59N|ENST00000377007,p.S59N|uc002wtg.1,p.S59N|NM_130794,p.S59N|ENST00000377009,p.S59N|NM_080830,p.S59N	protein_coding	uc002wtg.1	nonsynonymous SNV	exon1	c.G176A	p.S59N	SLQWITDQYNKESDDKYHFRIFRVL	SLQWITDQYNKENDDKYHFRIFRVL	1.0	4.0	unscreened	-	1913_20:23433273-23433273 C>T_SLQWITDQYNKENDDKYHFRIFRVL
17:16321043-16321043 G>A	1.0	1913	MELANOMA	-	-	-	-	TRPV2	NM_016113,p.D21N|uc002gpy.3,p.D21N|ENST00000338560,p.D21N	retained_intron, protein_coding, processed_transcript	uc002gpy.3	nonsynonymous SNV	exon2	c.G61A	p.D21N	VFRLETLDGGQEDGSEADRGKLDFG	VFRLETLDGGQENGSEADRGKLDFG	9.0	5.0	unscreened	-	1913_17:16321043-16321043 G>A_VFRLETLDGGQENGSEADRGKLDFG
10:68535268-68535268 T>A	0.0	1913	MELANOMA	-	-	-	-	CTNNA3	ENST00000373744,p.E354D|uc001jmx.4,p.E354D|uc009xpn.1,p.E354D|NM_013266,p.E354D|uc001jmw.2,p.E354D|ENST00000433211,p.E354D|NM_001127384,p.E354D	protein_coding, processed_transcript, nonsense_mediated_decay	uc009xpn.1	nonsynonymous SNV	exon8	c.A1062T	p.E354D	LLSEYMNNAGKKERSNTLNIALDNM	LLSEYMNNAGKKDRSNTLNIALDNM	1.0	6.0	unscreened	-	1913_10:68535268-68535268 T>A_LLSEYMNNAGKKDRSNTLNIALDNM
2:241631513-241631513 G>A	0.0	1913	MELANOMA	-	-	-	-	AQP12A	ENST00000337801,p.G49E|uc002vzu.3,p.G49E|NM_198998,p.G49E	protein_coding, processed_transcript	uc002vzu.3	nonsynonymous SNV	exon2	c.G146A	p.G49E	FAREAMRTLVELGPWAGDFGPDLLL	FAREAMRTLVELEPWAGDFGPDLLL	1.0	5.0	unscreened	-	1913_2:241631513-241631513 G>A_FAREAMRTLVELEPWAGDFGPDLLL
2:165996046-165996046 C>T	0.0	1913	MELANOMA	-	-	-	-	SCN3A	ENST00000283254,p.D698N|NM_001081676,p.D649N|ENST00000409101,p.D649N|ENST00000360093,p.D698N|uc002uda.1,p.D518N|uc002ucz.3,p.D649N|uc002udb.1,p.D518N|NM_006922,p.D698N|NM_001081677,p.D649N|ENST00000440431,p.D649N|uc002ucy.3,p.D649N|uc002ucx.3,p.D698N	retained_intron, protein_coding, processed_transcript	uc002udb.1	nonsynonymous SNV	exon10	c.G1552A	p.D518N	LSSYQISMEMLEDSSGRQRAVSIAS	LSSYQISMEMLENSSGRQRAVSIAS	3.0	5.0	unscreened	-	1913_2:165996046-165996046 C>T_LSSYQISMEMLENSSGRQRAVSIAS
10:124390708-124390708 G>A	0.0	1913	MELANOMA	-	-	-	-	DMBT1	uc010qtx.1,p.G677E|NM_007329,p.G1957E|ENST00000344338,p.G1947E|NM_004406,p.G1329E|ENST00000368956,p.G1329E|ENST00000359586,p.G677E|uc021qah.1,p.G1329E|uc009yac.1,p.G251E|ENST00000368955,p.G1947E|uc009xzz.1,p.G1957E|uc021qag.1,p.G1947E|uc009yab.1,p.G660E|uc001lgm.1,p.G1329E|ENST00000368909,p.G1957E|NM_017579,p.G1947E|uc001lgk.1,p.G1957E|uc001lgl.1,p.G1947E|ENST00000330163,p.G1329E|uc021qaf.1,p.G1957E|ENST00000338354,p.G1957E	protein_coding	uc021qah.1	nonsynonymous SNV	exon33	c.G3986A	p.G1329E	SGPITLDDVECSGTESTLWQCRNRG	SGPITLDDVECSETESTLWQCRNRG	1.0	5.0	unscreened	-	1913_10:124390708-124390708 G>A_SGPITLDDVECSETESTLWQCRNRG
19:56499245-56499245 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1712922;OCCURENCE=1(skin)	-	NLRP8	uc002qmh.3,p.G1038E|ENST00000291971,p.G1038E|uc010etg.3,p.G1019E|ENST00000590542,p.G1019E|NM_176811,p.G1038E	protein_coding	uc010etg.3	nonsynonymous SNV	exon10	c.G3056A	p.G1019E	SFSPTPHPPDFTGKSDCLSQINP	SFSPTPHPPDFTEKSDCLSQINP	1.0	5.0	unscreened	-	1913_19:56499245-56499245 G>A_SFSPTPHPPDFTEKSDCLSQINP
7:34014347-34014347 G>A	1.0	1913	MELANOMA	-	-	-	-	BMPER	ENST00000297161,p.G176E|ENST00000426693,p.G176E|NM_133468,p.G176E|uc011kap.2,p.G176E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kap.2	nonsynonymous SNV	exon7	c.G527A	p.G176E	PGCVFEGVQYQEGEEFQPEGSKCTK	PGCVFEGVQYQEEEEFQPEGSKCTK	5.0	4.0	unscreened	-	1913_7:34014347-34014347 G>A_PGCVFEGVQYQEEEEFQPEGSKCTK
19:36003533-36003533 C>T	0.0	1913	MELANOMA	-	-	-	-	DMKN	ENST00000418261,p.G196R|uc002oac.4,p.G196R|NM_033317,p.G196R|NM_001190348,p.G196R|uc002oab.4,p.G196R|NM_001190347,p.G196R|ENST00000447113,p.G196R|NM_001190349,p.G196R|NM_001126057,p.G196R|uc002nzm.4,p.G196R|uc002oaa.4,p.G196R|ENST00000429837,p.G196R|ENST00000424570,p.G196R|ENST00000440396,p.G196R|uc002nzn.4,p.G196R|ENST00000451297,p.G196R|NM_001126058,p.G196R|uc002nzo.4,p.G196R|NM_001126056,p.G196R|ENST00000419602,p.G196R|uc002nzz.3,p.G196R|ENST00000339686,p.G196R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002oac.4	nonsynonymous SNV	exon2	c.G586A	p.G196R	FGMNPQGAPWGQGGNGGPPNFGTNT	FGMNPQGAPWGQRGNGGPPNFGTNT	3.0	6.0	unscreened	-	1913_19:36003533-36003533 C>T_FGMNPQGAPWGQRGNGGPPNFGTNT
2:179597023-179597023 C>T	0.0	1913	MELANOMA	-	-	-	-	TTN	ENST00000591111,p.G5241E|uc021vsy.2,p.G4314E|ENST00000342992,p.G4314E|uc031rqc.1,p.G5558E|uc031rqd.1,p.G5241E|ENST00000589042,p.G5558E|uc002umz.1,p.G975E|NM_001267550,p.G5558E|NM_001256850,p.G5241E|NM_133378,p.G4314E	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon55	c.G15722A	p.G5241E	VEKLEPSQLLKKGDATQLACKVTGT	VEKLEPSQLLKKEDATQLACKVTGT	2.0	6.0	unscreened	-	1913_2:179597023-179597023 C>T_VEKLEPSQLLKKEDATQLACKVTGT
3:55768824-55768824 C>T	0.0	1913	MELANOMA	-	-	-	-	ERC2	uc021wzo.1,p.R896Q|ENST00000288221,p.R896Q|ENST00000460849,p.R896Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wzo.1	nonsynonymous SNV	exon14	c.G2687A	p.R896Q	QEEVMALKREKDRLVHQLKQQTQNR	QEEVMALKREKDQLVHQLKQQTQNR	1.0	6.0	unscreened	-	1913_3:55768824-55768824 C>T_QEEVMALKREKDQLVHQLKQQTQNR
3:55768824-55768824 C>T	0.0	1913	MELANOMA	-	-	-	-	ERC2	uc003dhr.1,p.R892Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003dhr.1	nonsynonymous SNV	exon14	c.G2675A	p.R892Q	KKKTQEEVMALKREKDRLVHQLKQQ	KKKTQEEVMALKQEKDRLVHQLKQQ	1.0	6.0	unscreened	-	1913_3:55768824-55768824 C>T_KKKTQEEVMALKQEKDRLVHQLKQQ
20:2378607-2378607 G>A	0.0	1913	MELANOMA	0	-	-	-	TGM6	ENST00000202625,p.R196Q|ENST00000381423,p.R196Q|NM_001254734,p.R196Q|NM_198994,p.R196Q|uc002wfy.1,p.R196Q|uc010gal.1,p.R196Q	protein_coding, processed_transcript	uc010gal.1	nonsynonymous SNV	exon5	c.G587A	p.R196Q	EDILNICLSILDRSPGHQNNPATDV	EDILNICLSILDQSPGHQNNPATDV	1.0	5.0	unscreened	-	1913_20:2378607-2378607 G>A_EDILNICLSILDQSPGHQNNPATDV
2:241631513-241631513 G>A	0.0	1913	MELANOMA	-	-	-	-	AQP12A	ENST00000429564,p.G61E	protein_coding, processed_transcript	ENST00000429564	nonsynonymous SNV	exon2	c.G182A	p.G61E	PCCLEMRTLVELGPWAGDFGPDLLL	PCCLEMRTLVELEPWAGDFGPDLLL	1.0	5.0	unscreened	-	1913_2:241631513-241631513 G>A_PCCLEMRTLVELEPWAGDFGPDLLL
2:179605809-179605809 C>T	0.0	1913	MELANOMA	-	-	-	-	TTN	uc031rqc.1,p.D4051N|uc031rqd.1,p.D3734N|uc021vsz.2,p.D3880N|NM_133432,p.D3813N|NM_001256850,p.D3734N|ENST00000460472,p.D3688N|NM_001267550,p.D4051N|NM_133437,p.D3880N|ENST00000589042,p.D4051N|NM_003319,p.D3688N|uc021vtb.2,p.D3688N|ENST00000359218,p.D3813N|ENST00000591111,p.D3734N|ENST00000342175,p.D3880N|uc021vta.2,p.D3813N	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon46	c.G11200A	p.D3734N	PCKAKSTPEAPEDFPQTPLKGPAVE	PCKAKSTPEAPENFPQTPLKGPAVE	2.0	4.0	unscreened	-	1913_2:179605809-179605809 C>T_PCKAKSTPEAPENFPQTPLKGPAVE
2:213921761-213921761 C>T	0.0	1913	MELANOMA	-	-	-	-	IKZF2	uc002vel.3,p.E15K|ENST00000433134,p.E74K|ENST00000374319,p.E68K|uc002vej.3,p.E15K|ENST00000431520,p.E68K|uc010fuv.3,p.E68K|ENST00000434687,p.E68K|uc010fuy.3,p.E68K|ENST00000439848,p.E68K|uc002ven.3,p.E68K|ENST00000413091,p.E68K|ENST00000342002,p.E74K|uc002vem.3,p.E68K|NM_016260,p.E68K|ENST00000452786,p.E68K|ENST00000451136,p.E68K|NM_001079526,p.E68K|ENST00000421754,p.E68K|ENST00000457361,p.E68K	retained_intron, protein_coding, nonsense_mediated_decay	uc010fuy.3	nonsynonymous SNV	exon3	c.G202A	p.E68K	SDEECDRKPLSREDEIRGHDEGSSL	SDEECDRKPLSRKDEIRGHDEGSSL	3.0	6.0	unscreened	-	1913_2:213921761-213921761 C>T_SDEECDRKPLSRKDEIRGHDEGSSL
8:104897770-104897770 G>A	0.0	1913	MELANOMA	-	-	-	-	RIMS2	uc003ylw.2,p.E123K|uc003ylr.3,p.E123K|ENST00000507740,p.E123K|ENST00000406091,p.E315K|uc003ylq.3,p.E123K|NM_014677,p.E123K|NM_001282881,p.E123K|ENST00000504942,p.E315K|NM_001100117,p.E315K|ENST00000408894,p.E123K|uc003yls.3,p.E93K|ENST00000262231,p.E123K|ENST00000436393,p.E93K|ENST00000515551,p.E123K|uc003ylp.3,p.E315K	retained_intron, protein_coding, processed_transcript	uc003ylw.2	nonsynonymous SNV	exon2	c.G367A	p.E123K	HSKEYIVDDEDVESRDEYERQRREE	HSKEYIVDDEDVKSRDEYERQRREE	2.0	5.0	unscreened	-	1913_8:104897770-104897770 G>A_HSKEYIVDDEDVKSRDEYERQRREE
22:26701947-26701947 C>T	0.0	1913	MELANOMA	-	-	-	-	SEZ6L	uc003acf.1,p.P224S|ENST00000404234,p.P451S|uc011akc.2,p.P451S|NM_021115,p.P451S|ENST00000360929,p.P451S|NM_001184775,p.P451S|uc011akd.2,p.P451S|NM_001184777,p.P451S|uc003acb.3,p.P451S|NM_001184773,p.P451S|ENST00000402979,p.P224S|ENST00000343706,p.P451S|uc010gvc.1,p.P224S|ENST00000529632,p.P451S|ENST00000403121,p.P224S|uc003acd.3,p.P451S|NM_001184776,p.P451S|NM_001184774,p.P451S|ENST00000248933,p.P451S|uc003acc.3,p.P451S|uc003ace.3,p.P451S	retained_intron, protein_coding, processed_transcript	uc011akd.2	nonsynonymous SNV	exon6	c.C1351T	p.P451S	PHWSSQEPICSAPCGGAVHNATIGR	PHWSSQEPICSASCGGAVHNATIGR	1.0	5.0	unscreened	-	1913_22:26701947-26701947 C>T_PHWSSQEPICSASCGGAVHNATIGR
9:77473592-77473592 G>A	0.0	1913	MELANOMA	-	-	ID=COSM1701202,COSM1701203;OCCURENCE=1(skin)	-	TRPM6	uc010mpd.1,p.P36S|NM_001177311,p.P31S|NM_001177310,p.P31S|ENST00000449912,p.P31S|ENST00000451710,p.P36S|ENST00000376872,p.P36S|uc004ajk.1,p.P31S|ENST00000361255,p.P31S|ENST00000360774,p.P36S|ENST00000376864,p.P36S|ENST00000376871,p.P36S|uc004ajl.1,p.P36S|uc010mpc.1,p.P36S|uc010mpe.1,p.P36S|ENST00000359047,p.P36S|uc022bib.1,p.P31S|NM_017662,p.P36S|uc004ajn.1,p.P36S	protein_coding, processed_transcript	uc022bib.1	nonsynonymous SNV	exon2	c.C91T	p.P31S	RECSTIIPSSKNPHRCTPVCQVCQN	RECSTIIPSSKNSHRCTPVCQVCQN	1.0	6.0	unscreened	-	1913_9:77473592-77473592 G>A_RECSTIIPSSKNSHRCTPVCQVCQN
10:61828401-61828401 T>A	0.0	1913	MELANOMA	-	-	-	-	ANK3	ENST00000280772,p.R4080W|uc001jky.3,p.R4080W|NM_020987,p.R4080W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jky.3	nonsynonymous SNV	exon37	c.A12238T	p.R4080W	SEKAGSEKRSSRRTGPQSPCERTDI	SEKAGSEKRSSRWTGPQSPCERTDI	3.0	4.0	unscreened	-	1913_10:61828401-61828401 T>A_SEKAGSEKRSSRWTGPQSPCERTDI
22:30772499-30772499 G>A	1.0	1913	MELANOMA	-	-	-	-	CCDC157	ENST00000405659,p.R675Q|uc011akv.2,p.R675Q|uc011aku.2,p.R675Q|NM_001017437,p.R675Q|ENST00000338306,p.R675Q	retained_intron, protein_coding	uc011akv.2	nonsynonymous SNV	exon12	c.G2024A	p.R675Q	RTLLGQPCTSPPRQPCTSPPRQPCT	RTLLGQPCTSPPQQPCTSPPRQPCT	6.0	5.0	unscreened	-	1913_22:30772499-30772499 G>A_RTLLGQPCTSPPQQPCTSPPRQPCT
2:179544362-179544362 G>A	0.0	1913	MELANOMA	-	-	-	-	TTN	uc021vsy.2,p.P9966S|uc002umz.1,p.P6627S|ENST00000342992,p.P9966S|ENST00000591111,p.P10893S|uc031rqc.1,p.P11210S|NM_133378,p.P9966S|NM_001267550,p.P11210S|uc031rqd.1,p.P10893S|NM_001256850,p.P10893S|ENST00000589042,p.P11210S	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon139	c.C32677T	p.P10893S	PRKPVPEEKKPVPVPKKKEAPPAKV	PRKPVPEEKKPVSVPKKKEAPPAKV	2.0	4.0	unscreened	-	1913_2:179544362-179544362 G>A_PRKPVPEEKKPVSVPKKKEAPPAKV
8:53126808-53126808 C>T	0.0	1913	MELANOMA	-	-	-	-	ST18	ENST00000522251,p.E4K|ENST00000517580,p.E4K|ENST00000276480,p.E4K|ENST00000521824,p.E4K|NM_014682,p.E4K|uc003xra.2,p.E4K|ENST00000521582,p.E4K|uc003xrb.2,p.E4K|uc003xqz.2,p.E4K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xrb.2	nonsynonymous SNV	exon7	c.G10A	p.E4K	MDAEAEDKTLRTRSKG	MDAKAEDKTLRTRSKG	1.0	5.0	unscreened	-	1913_8:53126808-53126808 C>T_MDAKAEDKTLRTRSKG
19:39014559-39014559 G>A	0.0	1913	MELANOMA	-	-	-	-	RYR1	uc002oit.3,p.G3482E|NM_000540,p.G3482E|uc010xuf.1,p.G402E|ENST00000359596,p.G3482E|ENST00000360985,p.G3482E	retained_intron, protein_coding, nonsense_mediated_decay	uc010xuf.1	nonsynonymous SNV	exon9	c.G1205A	p.G402E	LTADNKSKMAKAGDIQSGGSDQERT	LTADNKSKMAKAEDIQSGGSDQERT	1.0	6.0	unscreened	-	1913_19:39014559-39014559 G>A_LTADNKSKMAKAEDIQSGGSDQERT
2:169825880-169825880 A>G	0.0	1913	MELANOMA	-	-	-	-	ABCB11	ENST00000263817,p.L664P|uc010zda.1,p.L106P|uc002ueo.1,p.L664P|NM_003742,p.L664P|uc010zdb.1,p.L140P	retained_intron, protein_coding, nonsense_mediated_decay	uc010zdb.1	nonsynonymous SNV	exon3	c.T419C	p.L140P	TLVTLQSQGNQALNEEDIKDATEDD	TLVTLQSQGNQAPNEEDIKDATEDD	1.0	5.0	unscreened	-	1913_2:169825880-169825880 A>G_TLVTLQSQGNQAPNEEDIKDATEDD
20:6022276-6022276 C>T	0.0	1913	MELANOMA	-	-	-	-	LRRN4	NM_152611,p.G539R|uc002wmo.3,p.G539R|ENST00000378858,p.G539R	protein_coding	uc002wmo.3	nonsynonymous SNV	exon5	c.G1615A	p.G539R	YSEEEEGRKEEVGTPHQDVPCDYHP	YSEEEEGRKEEVRTPHQDVPCDYHP	1.0	6.0	unscreened	-	1913_20:6022276-6022276 C>T_YSEEEEGRKEEVRTPHQDVPCDYHP
8:25890637-25890637 C>T	0.0	1913	MELANOMA	-	-	-	-	EBF2	ENST00000408929,p.R24Q|ENST00000520164,p.R172Q|NM_022659,p.R172Q|uc003xet.2,p.R172Q|uc003xes.2,p.R172Q	retained_intron, protein_coding	uc003xet.2	nonsynonymous SNV	exon6	c.G515A	p.R172Q	CSRCCEKKSCGNRNETPSDPVIIDR	CSRCCEKKSCGNQNETPSDPVIIDR	1.0	5.0	unscreened	-	1913_8:25890637-25890637 C>T_CSRCCEKKSCGNQNETPSDPVIIDR
19:57641208-57641208 G>A	0.0	1913	MELANOMA	-	-	-	-	USP29	uc021vci.1,p.E389K|uc002qny.3,p.E389K|NM_020903,p.E389K|ENST00000254181,p.E389K|ENST00000598197,p.E389K	protein_coding	uc021vci.1	nonsynonymous SNV	exon1	c.G1165A	p.E389K	LGQCLDQLKEDMEKLNATLNTGKEC	LGQCLDQLKEDMKKLNATLNTGKEC	1.0	5.0	unscreened	-	1913_19:57641208-57641208 G>A_LGQCLDQLKEDMKKLNATLNTGKEC
3:96963157-96963157 A>T	0.0	1913	MELANOMA	-	-	-	-	EPHA6	uc003drp.1,p.K544N|ENST00000470610,p.K544N	protein_coding, nonsense_mediated_decay	uc003drp.1	nonsynonymous SNV	exon5	c.A1632T	p.K544N	TDQDGKFHCCSLKTDP	TDQDGKFHCCSLNTDP	1.0	4.0	unscreened	-	1913_3:96963157-96963157 A>T_TDQDGKFHCCSLNTDP
7:140301843-140301843 C>T	0.0	1913	MELANOMA	-	-	-	-	DENND2A	uc003vvx.3,p.G119R|ENST00000537639,p.G119R|uc010lnj.3,p.G119R|uc003vvw.3,p.G119R|uc010lnk.3,p.G119R|ENST00000491728,p.G119R|ENST00000496613,p.G119R|ENST00000275884,p.G119R|ENST00000492720,p.G119R|NM_015689,p.G119R|ENST00000461883,p.G119R	protein_coding, nonsense_mediated_decay	uc010lnk.3	nonsynonymous SNV	exon3	c.G355A	p.G119R	EKERNKGAVNVGGQDPEPGQDLSQP	EKERNKGAVNVGRQDPEPGQDLSQP	2.0	5.0	unscreened	-	1913_7:140301843-140301843 C>T_EKERNKGAVNVGRQDPEPGQDLSQP
7:100676157-100676157 C>T	0.0	1913	MELANOMA	-	-	-	-	MUC17	NM_001040105,p.T487I|ENST00000379439,p.T487I|ENST00000306151,p.T487I|uc003uxp.1,p.T487I	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.C1460T	p.T487I	TPVDSKTQVTTSTEASSSPPTAEVN	TPVDSKTQVTTSIEASSSPPTAEVN	1.0	5.0	unscreened	-	1913_7:100676157-100676157 C>T_TPVDSKTQVTTSIEASSSPPTAEVN
7:131831325-131831325 C>T	0.0	1913	MELANOMA	-	-	-	-	PLXNA4	ENST00000359827,p.D1667N|ENST00000321063,p.D1667N|NM_020911,p.D1667N|uc003vra.4,p.D1667N	retained_intron, protein_coding	uc003vra.4	nonsynonymous SNV	exon28	c.G4999A	p.D1667N	VKNHEHGDQKEGDRGSKMVSEIYLT	VKNHEHGDQKEGNRGSKMVSEIYLT	1.0	5.0	unscreened	-	1913_7:131831325-131831325 C>T_VKNHEHGDQKEGNRGSKMVSEIYLT
10:81318668-81318668 C>T	0.0	1913	MELANOMA	-	-	-	-	SFTPA2	ENST00000372327,p.G89E|uc001kal.4,p.G89E|ENST00000417041,p.G89E|NM_001098668,p.G89E|uc001kan.4,p.G89E|ENST00000372325,p.G89E	protein_coding, processed_transcript	uc001kan.4	nonsynonymous SNV	exon3	c.G266A	p.G89E	GAPGVPGERGEKGEAGERGPPGLPA	GAPGVPGERGEKEEAGERGPPGLPA	1.0	5.0	unscreened	-	1913_10:81318668-81318668 C>T_GAPGVPGERGEKEEAGERGPPGLPA
2:51254766-51254766 G>A	0.0	1913	MELANOMA	-	-	-	-	NRXN1	NM_001135659,p.P216S|ENST00000405472,p.P216S|ENST00000405581,p.P216S|ENST00000401669,p.P216S|uc021vhj.1,p.P216S|uc021vhg.1,p.P216S|uc021vhk.1,p.P216S|NM_004801,p.P216S|ENST00000406859,p.P216S|ENST00000406316,p.P216S|uc021vhh.1,p.P216S|ENST00000404971,p.P216S|uc021vhi.1,p.P216S|ENST00000402717,p.P216S	retained_intron, protein_coding, processed_transcript	uc021vhk.1	nonsynonymous SNV	exon2	c.C646T	p.P216S	LDDEPPNSGGGSPCEAGEEGEGGVC	LDDEPPNSGGGSSCEAGEEGEGGVC	1.0	4.0	unscreened	-	1913_2:51254766-51254766 G>A_LDDEPPNSGGGSSCEAGEEGEGGVC
7:131195841-131195841 C>T	0.0	1913	MELANOMA	-	-	-	-	PODXL	ENST00000446198,p.G151E|NM_005397,p.G151E|NM_001018111,p.G151E|ENST00000541194,p.G153E|uc003vqx.4,p.G151E|ENST00000322985,p.G151E|uc003vqw.4,p.G151E|ENST00000537928,p.G151E|ENST00000378555,p.G151E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vqx.4	nonsynonymous SNV	exon2	c.G452A	p.G151E	ATAKPNTTSSQNGAEDTTNSGGKSS	ATAKPNTTSSQNEAEDTTNSGGKSS	3.0	5.0	unscreened	-	1913_7:131195841-131195841 C>T_ATAKPNTTSSQNEAEDTTNSGGKSS
12:100813933-100813933 C>T	0.0	1913	MELANOMA	-	-	-	-	SLC17A8	uc009ztx.3,p.S539F|NM_139319,p.S589F|ENST00000392989,p.S539F|uc010svi.2,p.S589F|ENST00000323346,p.S589F|NM_001145288,p.S539F	retained_intron, protein_coding, processed_transcript	uc010svi.2	nonsynonymous SNV	exon12	c.C1766T	p.S589F	SYQNEERNFSTIS	SYQNEERNFSTIF	1.0	4.0	unscreened	-	1913_12:100813933-100813933 C>T_SYQNEERNFSTIF
2:207174855-207174855 T>A	0.0	1913	MELANOMA	-	-	-	-	ZDBF2	NM_020923,p.V1868D|NM_001285549,p.V1866D|ENST00000374423,p.V1868D|uc002vbp.2,p.V1868D|uc031rqy.1,p.V1866D	protein_coding	uc031rqy.1	nonsynonymous SNV	exon7	c.T5597A	p.V1866D	HCYFDDDCETKKVSSKGKKKVTWAD	HCYFDDDCETKKDSSKGKKKVTWAD	1.0	4.0	unscreened	-	1913_2:207174855-207174855 T>A_HCYFDDDCETKKDSSKGKKKVTWAD
22:18020370-18020370 G>A	0.0	1913	MELANOMA	0.0005	-	-	-	CECR2	NM_001290046,p.D426N|ENST00000400573,p.D567N|uc002zml.2,p.D426N|uc010gqv.1,p.D426N|ENST00000262608,p.D568N|ENST00000400585,p.D426N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010gqv.1	nonsynonymous SNV	exon14	c.G1276A	p.D426N	LPPTRRAPSSGDDQSSSSTQPPREV	LPPTRRAPSSGDNQSSSSTQPPREV	1.0	6.0	unscreened	-	1913_22:18020370-18020370 G>A_LPPTRRAPSSGDNQSSSSTQPPREV
2:131519648-131519648 G>A	0.0	1913	MELANOMA	-	-	-	-	AMER3	uc010fmv.2,p.M1I|NM_001105193,p.M1I|ENST00000321420,p.M1I|uc021voy.1,p.M1I|uc010fms.1,p.M1I|uc002trw.2,p.M1I|NM_001105194,p.M1I|uc010fmu.1,p.M1I|uc010fmt.1,p.M1I|NM_152698,p.M1I|ENST00000458606,p.M1I|ENST00000431758,p.M1I|ENST00000423981,p.M1I|NM_001105195,p.M1I	protein_coding	uc021voy.1	nonsynonymous SNV	exon1	c.G3A	p.M1I	MELKRGKTFIKSS	IELKRGKTFIKSS	1.0	5.0	unscreened	-	1913_2:131519648-131519648 G>A_IELKRGKTFIKSS
5:148930448-148930448 G>A	1.0	2098	MELANOMA	-	-	-	-	CSNK1A1	uc003lqx.2,p.S27F|NM_001892,p.S27F|ENST00000515768,p.S27F|ENST00000515748,p.S27F|ENST00000377843,p.S27F|ENST00000523203,p.S27F|uc003lqy.2,p.S27F|NM_001025105,p.S27F|uc010jha.2,p.S27F|ENST00000261798,p.S27F|uc003lqw.2,p.S27F|NM_001271741,p.S27F	protein_coding, nonsense_mediated_decay	uc010jha.2	nonsynonymous SNV	exon1	c.C80T	p.S27F	GKYKLVRKIGSGSFGDIYLAINITN	GKYKLVRKIGSGLFGDIYLAINITN	10.0	9.0	CD8	dnv, p.S27F>p.S27L PR	2098_5:148930448-148930448 G>A_GKYKLVRKIGSGLFGDIYLAINITN
17:9837503-9837503 G>A	1.0	2098	MELANOMA	-	-	-	1	GAS7	uc002gmh.1,p.H149Y|uc010vvd.1,p.H241Y|NM_201432,p.H229Y|uc002gmj.1,p.H229Y|ENST00000437099,p.H225Y|ENST00000323816,p.H225Y|uc010coh.1,p.H229Y|ENST00000580865,p.H149Y|ENST00000580811,p.H133Y|uc010vvc.1,p.H103Y|ENST00000396115,p.H229Y|ENST00000542249,p.H234Y|NM_003644,p.H149Y|uc002gmg.1,p.H289Y|ENST00000585266,p.H225Y|NM_001130831,p.H225Y|ENST00000432992,p.H289Y|NM_201433,p.H289Y|ENST00000581871,p.H103Y|uc002gmi.2,p.H225Y|ENST00000579158,p.H241Y	retained_intron, protein_coding, processed_transcript	uc010vvd.1	nonsynonymous SNV	exon8	c.C721T	p.H241Y	QVKKSLADEAEVHLKFSAKLHSEVE	QVKKSLADEAEVYLKFSAKLHSEVE	10.0	4.0	CD8	-	2098_17:9837503-9837503 G>A_QVKKSLADEAEVYLKFSAKLHSEVE
5:77335040-77335040 C>T	1.0	2098	MELANOMA	-	-	-	-	AP3B1	ENST00000519295,p.G830E|ENST00000255194,p.G879E|uc031skl.1,p.G830E|uc003kfj.4,p.G879E|NM_003664,p.G879E|NM_001271769,p.G830E	retained_intron, protein_coding, processed_transcript	uc031skl.1	nonsynonymous SNV	exon23	c.G2489A	p.G830E	PTKTHVLLHRMSGKGLAAHYFFPRQ	PTKTHVLLHRMSEKGLAAHYFFPRQ	9.0	10.0	unscreened	-	2098_5:77335040-77335040 C>T_PTKTHVLLHRMSEKGLAAHYFFPRQ
4:2242196-2242196 T>C	1.0	2098	MELANOMA	-	-	-	-	HAUS3	ENST00000443786,p.T160A|uc003ges.1,p.T160A|uc003get.1,p.T160A|ENST00000506763,p.T160A|NM_024511,p.T160A|ENST00000243706,p.T160A|uc011bvj.1,p.T160A	protein_coding	uc011bvj.1	nonsynonymous SNV	exon2	c.A478G	p.T160A	LKQSQGILNAMITKISNELQALTDE	LKQSQGILNAMIAKISNELQALTDE	7.0	7.0	CD8	-	2098_4:2242196-2242196 T>C_LKQSQGILNAMIAKISNELQALTDE
12:6646556-6646556 G>A	0.0	2098	MELANOMA	-	-	-	-	GAPDH	ENST00000396856,p.M100I|ENST00000396859,p.M175I|uc031qfw.1,p.M133I|ENST00000396861,p.M175I|NM_001289746,p.M175I|ENST00000396858,p.M133I|ENST00000229239,p.M175I|NM_001289745,p.M175I|uc001qop.2,p.M175I|NM_002046,p.M175I|NM_001256799,p.M133I	retained_intron, protein_coding, processed_transcript	uc031qfw.1	nonsynonymous SNV	exon6	c.G399A	p.M133I	VIHDNFGIVEGLMTTVHAITATQKT	VIHDNFGIVEGLITTVHAITATQKT	10.0	1.0	CD8	-	2098_12:6646556-6646556 G>A_VIHDNFGIVEGLITTVHAITATQKT
1:68153355-68153355 A>T	1.0	2098	MELANOMA	-	-	-	-	GADD45A	uc009wbc.2,p.H53L|NM_001199742,p.H53L	protein_coding, processed_transcript	uc009wbc.2	nonsynonymous SNV	exon3	c.A158T	p.H53L	YEAAKLLNVIHIHLNGRILP	YEAAKLLNVIHILLNGRILP	10.0	10.0	unscreened	-	2098_1:68153355-68153355 A>T_YEAAKLLNVIHILLNGRILP
13:78493569-78493569 G>A	1.0	2098	MELANOMA	-	-	-	-	EDNRB	uc001vkp.1,p.P61L|NM_001201397,p.P61L|ENST00000377211,p.P61L	protein_coding, processed_transcript	uc001vkp.1	nonsynonymous SNV	exon1	c.C182T	p.P61L	NPAGFRLPGRWSPFVALHLVCQIRE	NPAGFRLPGRWSLFVALHLVCQIRE	10.0	2.0	unscreened	-	2098_13:78493569-78493569 G>A_NPAGFRLPGRWSLFVALHLVCQIRE
18:33271131-33271131 G>T	1.0	2098	MELANOMA	-	-	-	-	GALNT1	uc010dmu.3,p.K378N|ENST00000269195,p.K378N|ENST00000537549,p.K318N|uc002kyz.4,p.K318N|uc002kzb.3,p.K378N|NM_020474,p.K378N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dmu.3	nonsynonymous SNV	exon8	c.G1134T	p.K378N	NRRLAEVWMDEFKNFFYIISPGVTK	NRRLAEVWMDEFNNFFYIISPGVTK	9.0	3.0	unscreened	-	2098_18:33271131-33271131 G>T_NRRLAEVWMDEFNNFFYIISPGVTK
12:7177560-7177560 A>C	1.0	2098	MELANOMA	-	-	-	-	C1S	NM_201442,p.N558H|uc001qsl.3,p.N558H|uc001qsk.3,p.N558H|NM_001734,p.N558H|uc009zfr.3,p.N391H|ENST00000402681,p.N391H|ENST00000360817,p.N558H|ENST00000406697,p.N558H|ENST00000328916,p.N558H|uc001qsj.3,p.N558H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zfr.3	nonsynonymous SNV	exon11	c.A1171C	p.N391H	SPICLPGTSSDYNLMDGDLGLISGW	SPICLPGTSSDYHLMDGDLGLISGW	6.0	9.0	unscreened	-	2098_12:7177560-7177560 A>C_SPICLPGTSSDYHLMDGDLGLISGW
5:123983420-123983420 A>G	1.0	2098	MELANOMA	-	-	-	-	ZNF608	ENST00000504926,p.V459A|uc003ktq.1,p.V886A|uc003ktt.1,p.V886A|uc003kts.1,p.V886A|ENST00000306315,p.V886A|NM_020747,p.V886A	protein_coding, processed_transcript, nonsense_mediated_decay	uc003ktt.1	nonsynonymous SNV	exon5	c.T2657C	p.V886A	SRMASIKAEADKVYTFTDNAPSPSI	SRMASIKAEADKAYTFTDNAPSPSI	8.0	10.0	unscreened	-	2098_5:123983420-123983420 A>G_SRMASIKAEADKAYTFTDNAPSPSI
13:42793447-42793447 C>T	1.0	2098	MELANOMA	-	-	-	-	DGKH	ENST00000538674,p.P854S|ENST00000540693,p.P1099S|uc001uyl.2,p.P1099S|ENST00000337343,p.P1099S|NM_152910,p.P1099S|uc001uyo.2,p.P963S|NM_001204505,p.P963S|uc010tfj.2,p.P963S|NM_001204506,p.P963S|NM_001204504,p.P1099S|uc010tfh.2,p.P1099S|uc010tfi.2,p.P854S|NM_178009,p.P1099S|ENST00000261491,p.P1099S|ENST00000379274,p.P963S|uc001uym.2,p.P1099S|ENST00000536612,p.P963S|NM_001297429,p.P854S	protein_coding, processed_transcript	uc010tfj.2	nonsynonymous SNV	exon25	c.C2887T	p.P963S	SVEVELQKLTEIPWLYYILHPNEDE	SVEVELQKLTEISWLYYILHPNEDE	6.0	5.0	unscreened	-	2098_13:42793447-42793447 C>T_SVEVELQKLTEISWLYYILHPNEDE
13:113900370-113900370 C>T	1.0	2098	MELANOMA	-	-	-	-	CUL4A	ENST00000375441,p.T444I|NM_001278514,p.T452I|NM_001008895,p.T544I|NM_001278513,p.T444I|ENST00000326335,p.T444I|uc021rmu.1,p.T444I|ENST00000451881,p.T444I|ENST00000375440,p.T544I|uc010tjz.2,p.T223I|uc021rmv.1,p.T544I|NM_003589,p.T444I|uc010agu.3,p.T405I	protein_coding, processed_transcript	uc021rmv.1	nonsynonymous SNV	exon15	c.C1631T	p.T544I	YWPTYTPMEVHLTPEMIKLQEVFKA	YWPTYTPMEVHLIPEMIKLQEVFKA	10.0	9.0	unscreened	-	2098_13:113900370-113900370 C>T_YWPTYTPMEVHLIPEMIKLQEVFKA
1:1229846-1229846 G>A	1.0	2098	MELANOMA	-	-	-	-	ACAP3	ENST00000353662,p.A617V|NM_030649,p.A692V|uc001aea.2,p.A617V|uc001ady.2,p.A422V|ENST00000354700,p.A692V|uc001aeb.2,p.A692V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001aeb.2	nonsynonymous SNV	exon21	c.C2075T	p.A692V	DLPALAAALAHGAEVNWADAEDEGK	DLPALAAALAHGVEVNWADAEDEGK	9.0	8.0	unscreened	-	2098_1:1229846-1229846 G>A_DLPALAAALAHGVEVNWADAEDEGK
1:197073991-197073991 C>T	1.0	2098	MELANOMA	-	-	-	-	ASPM	uc001gtu.3,p.E1464K|NM_018136,p.E1464K|ENST00000367409,p.E1464K	protein_coding	uc001gtu.3	nonsynonymous SNV	exon18	c.G4390A	p.E1464K	AFREWHLRKQAKEENSAIIIQSWYR	AFREWHLRKQAKKENSAIIIQSWYR	6.0	7.0	unscreened	-	2098_1:197073991-197073991 C>T_AFREWHLRKQAKKENSAIIIQSWYR
3:142422798-142422798 G>A	1.0	2098	MELANOMA	-	-	-	-	PLS1	NM_001145319,p.G487E|ENST00000457734,p.G487E|NM_002670,p.G487E|uc010huv.3,p.G487E|uc003euz.3,p.G487E|uc003eva.3,p.G487E|ENST00000497002,p.G487E|NM_001172312,p.G487E|ENST00000337777,p.G487E	retained_intron, protein_coding	uc010huv.3	nonsynonymous SNV	exon13	c.G1460A	p.G487E	SLVGIAGQDLNEGNSTLTLALVWQL	SLVGIAGQDLNEENSTLTLALVWQL	6.0	5.0	unscreened	-	2098_3:142422798-142422798 G>A_SLVGIAGQDLNEENSTLTLALVWQL
20:33448071-33448071 G>T	1.0	2098	MELANOMA	-	-	-	-	GGT7	uc002xaz.1,p.H260Q|uc002xay.3,p.H243Q|NM_178026,p.H243Q|ENST00000336431,p.H243Q	protein_coding, processed_transcript	uc002xaz.1	nonsynonymous SNV	exon6	c.C780A	p.H260Q	GVPGMVKGLHEAHQLYGRLPWSQVL	GVPGMVKGLHEAQQLYGRLPWSQVL	9.0	1.0	unscreened	-	2098_20:33448071-33448071 G>T_GVPGMVKGLHEAQQLYGRLPWSQVL
20:25261694-25261694 C>T	1.0	2098	MELANOMA	-	-	-	-	PYGB	ENST00000216962,p.S450F|uc002wup.3,p.S450F|NM_002862,p.S450F	protein_coding, processed_transcript	uc002wup.3	nonsynonymous SNV	exon11	c.C1349T	p.S450F	KRINMAHLCVIGSHAVNGVARIHSE	KRINMAHLCVIGFHAVNGVARIHSE	10.0	2.0	unscreened	-	2098_20:25261694-25261694 C>T_KRINMAHLCVIGFHAVNGVARIHSE
1:120466390-120466390 G>C	1.0	2098	MELANOMA	-	-	-	1	NOTCH2	ENST00000256646,p.L1577V|uc001eik.3,p.L1577V|NM_024408,p.L1577V	protein_coding, processed_transcript	uc001eik.3	nonsynonymous SNV	exon26	c.C4729G	p.L1577V	FLRALGTLLHTNLRIKRDSQGELMV	FLRALGTLLHTNVRIKRDSQGELMV	9.0	10.0	unscreened	-	2098_1:120466390-120466390 G>C_FLRALGTLLHTNVRIKRDSQGELMV
21:45096171-45096171 C>T	1.0	2098	MELANOMA	-	-	-	-	RRP1B	uc002zdk.3,p.L190F|ENST00000340648,p.L190F|NM_015056,p.L190F	retained_intron, protein_coding	uc002zdk.3	nonsynonymous SNV	exon7	c.C568T	p.L190F	KVGGKELLADQNLKFIDPFCKIAAK	KVGGKELLADQNFKFIDPFCKIAAK	8.0	6.0	unscreened	-	2098_21:45096171-45096171 C>T_KVGGKELLADQNFKFIDPFCKIAAK
1:161011635-161011635 G>A	1.0	2098	MELANOMA	-	-	-	-	USF1	ENST00000531842,p.A93V	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000531842	nonsynonymous SNV	exon5	c.C278T	p.A93V	ISGYPATQSMTQAVIQGQFFVMMSP	ISGYPATQSMTQVVIQGQFFVMMSP	9.0	2.0	unscreened	-	2098_1:161011635-161011635 G>A_ISGYPATQSMTQVVIQGQFFVMMSP
20:49620898-49620898 T>A	1.0	2098	MELANOMA	-	-	-	-	KCNG1	ENST00000371571,p.E407V|NM_002237,p.E407V|uc002xwa.4,p.E407V	protein_coding	uc002xwa.4	nonsynonymous SNV	exon3	c.A1220T	p.E407V	LYVIENEMADSPEFTSIPACYWWAV	LYVIENEMADSPVFTSIPACYWWAV	7.0	3.0	unscreened	-	2098_20:49620898-49620898 T>A_LYVIENEMADSPVFTSIPACYWWAV
16:13297317-13297317 C>T	1.0	2098	MELANOMA	-	-	-	-	SHISA9	ENST00000558583,p.S294L|uc010uyy.2,p.S253L|ENST00000424107,p.S253L|NM_001145204,p.S253L	protein_coding, processed_transcript	uc010uyy.2	nonsynonymous SNV	exon3	c.C758T	p.S253L	TSPLLQQMGHPHSYPNLGQISNPYE	TSPLLQQMGHPHLYPNLGQISNPYE	9.0	10.0	unscreened	-	2098_16:13297317-13297317 C>T_TSPLLQQMGHPHLYPNLGQISNPYE
19:17741042-17741042 G>A	1.0	2098	MELANOMA	-	-	-	-	UNC13A	uc031rjw.1,p.S1194F|ENST00000550896,p.S1192F|ENST00000519716,p.S1194F|ENST00000252773,p.S1194F|ENST00000551649,p.S1194F|ENST00000428389,p.S1282F|NM_001080421,p.S1194F|ENST00000552293,p.S1194F	retained_intron, protein_coding	uc031rjw.1	nonsynonymous SNV	exon30	c.C3581T	p.S1194F	HALFSCSVVDVFSQLNQSFEIIKKL	HALFSCSVVDVFFQLNQSFEIIKKL	5.0	6.0	unscreened	-	2098_19:17741042-17741042 G>A_HALFSCSVVDVFFQLNQSFEIIKKL
1:186037071-186037071 C>T	1.0	2098	MELANOMA	-	-	-	-	HMCN1	uc001grq.1,p.P2604L|NM_031935,p.P2604L|ENST00000271588,p.P2604L|ENST00000367492,p.P2604L	protein_coding, processed_transcript	uc001grq.1	nonsynonymous SNV	exon50	c.C7811T	p.P2604L	PTSLVCEAYSYPPATITWFKDGTPL	PTSLVCEAYSYPLATITWFKDGTPL	10.0	5.0	unscreened	-	2098_1:186037071-186037071 C>T_PTSLVCEAYSYPLATITWFKDGTPL
17:56590230-56590230 C>T	1.0	2098	MELANOMA	-	-	-	-	MTMR4	uc010dcx.1,p.E40K|ENST00000579925,p.E26K|ENST00000579921,p.E30K|uc002iwj.2,p.E26K|ENST00000583656,p.E40K|ENST00000582390,p.E40K|ENST00000323456,p.E26K|NM_004687,p.E26K|ENST00000582663,p.E26K	retained_intron, protein_coding, nonsense_mediated_decay	uc010dcx.1	nonsynonymous SNV	exon2	c.G118A	p.E40K	AKDLFPPKELVKEEENLQVPFTVLQ	AKDLFPPKELVKKEENLQVPFTVLQ	9.0	1.0	unscreened	-	2098_17:56590230-56590230 C>T_AKDLFPPKELVKKEENLQVPFTVLQ
6:52843390-52843390 C>T	1.0	2098	MELANOMA	-	-	-	-	GSTA4	ENST00000370963,p.E183K|ENST00000370959,p.E183K|ENST00000370960,p.E90K|uc003pbd.3,p.E90K|NM_001512,p.E183K|uc003pbf.3,p.E183K|ENST00000541324,p.E90K	protein_coding, processed_transcript	uc003pbf.3	nonsynonymous SNV	exon7	c.G547A	p.E183K	IPNILSAFPFLQEYTVKLSNIPTIK	IPNILSAFPFLQKYTVKLSNIPTIK	9.0	4.0	unscreened	-	2098_6:52843390-52843390 C>T_IPNILSAFPFLQKYTVKLSNIPTIK
19:6452424-6452424 G>A	1.0	2098	MELANOMA	-	-	-	-	SLC25A23	ENST00000264088,p.R371C|NM_024103,p.R324C|ENST00000334510,p.R324C|uc002mex.1,p.R324C|ENST00000301454,p.R324C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mex.1	nonsynonymous SNV	exon8	c.C970T	p.R324C	TGQYKGLLDCARRILEREGPRAFYR	TGQYKGLLDCARCILEREGPRAFYR	9.0	1.0	unscreened	-	2098_19:6452424-6452424 G>A_TGQYKGLLDCARCILEREGPRAFYR
7:5104819-5104819 C>T	1.0	2098	MELANOMA	-	-	-	-	RBAK	uc003sns.1,p.H578Y|uc031swl.1,p.H542Y|uc010kss.1,p.H578Y|NM_021163,p.H578Y|ENST00000396912,p.H578Y|ENST00000353796,p.H578Y|NM_001204456,p.H578Y	retained_intron, protein_coding, processed_transcript	uc031swl.1	nonsynonymous SNV	exon3	c.C1624T	p.H542Y	PYGCSECGKTFSHNSSLFRHQRVHT	PYGCSECGKTFSYNSSLFRHQRVHT	7.0	6.0	unscreened	-	2098_7:5104819-5104819 C>T_PYGCSECGKTFSYNSSLFRHQRVHT
19:1254233-1254233 T>C	1.0	2098	MELANOMA	-	-	-	-	MIDN	uc002lrp.3,p.F151S|ENST00000591446,p.F151S|NM_177401,p.F151S|ENST00000300952,p.F151S	retained_intron, protein_coding	uc002lrp.3	nonsynonymous SNV	exon5	c.T452C	p.F151S	LTLALRVGDHMMFVQLQLAAQHAPL	LTLALRVGDHMMSVQLQLAAQHAPL	9.0	4.0	unscreened	-	2098_19:1254233-1254233 T>C_LTLALRVGDHMMSVQLQLAAQHAPL
11:103229046-103229046 G>A	1.0	2098	MELANOMA	-	-	-	-	DYNC2H1	ENST00000375735,p.E4039K|ENST00000533197,p.E26K|uc001phn.1,p.E4046K|ENST00000398093,p.E4046K|NM_001377,p.E4039K|NM_001080463,p.E4046K|uc001pho.2,p.E4039K	retained_intron, protein_coding, nonsense_mediated_decay	uc001pho.2	nonsynonymous SNV	exon83	c.G12115A	p.E4039K	AGSKFDREIWSNELSPVLNLWKKLN	AGSKFDREIWSNKLSPVLNLWKKLN	6.0	10.0	unscreened	-	2098_11:103229046-103229046 G>A_AGSKFDREIWSNKLSPVLNLWKKLN
19:9451832-9451832 A>T	1.0	2098	MELANOMA	-	-	-	-	ZNF559	ENST00000603974,p.Q72L	protein_coding, processed_transcript	ENST00000603974	nonsynonymous SNV	exon5	c.A215T	p.Q72L	NTKWSAPQQNFLQGKTSSVVEMRCG	NTKWSAPQQNFLLGKTSSVVEMRCG	8.0	7.0	unscreened	-	2098_19:9451832-9451832 A>T_NTKWSAPQQNFLLGKTSSVVEMRCG
4:148549579-148549579 G>A	1.0	2098	MELANOMA	-	-	ID=COSM732449;OCCURENCE=1(lung)	-	TMEM184C	uc003ila.4,p.V189I|ENST00000508208,p.V189I|NM_018241,p.V189I|ENST00000296582,p.V189I	retained_intron, protein_coding, nonsense_mediated_decay	uc003ila.4	nonsynonymous SNV	exon5	c.G565A	p.V189I	LQYTVVRPFTTIVALICELLGIYDE	LQYTVVRPFTTIIALICELLGIYDE	9.0	2.0	unscreened	-	2098_4:148549579-148549579 G>A_LQYTVVRPFTTIIALICELLGIYDE
19:9451832-9451832 A>T	1.0	2098	MELANOMA	-	-	-	-	ZNF559	ENST00000592504,p.Q72L|uc002mld.3,p.Q136L	protein_coding, processed_transcript	uc002mld.3	nonsynonymous SNV	exon5	c.A407T	p.Q136L	NTKWSAPQQNFLQGKTSSVVEMVRF	NTKWSAPQQNFLLGKTSSVVEMVRF	8.0	7.0	unscreened	-	2098_19:9451832-9451832 A>T_NTKWSAPQQNFLLGKTSSVVEMVRF
20:61461740-61461740 G>A	1.0	2098	MELANOMA	-	-	-	-	COL9A3	ENST00000343916,p.G397E|NM_001853,p.G397E|uc002ydm.3,p.G397E	retained_intron, protein_coding, processed_transcript	uc002ydm.3	nonsynonymous SNV	exon23	c.G1190A	p.G397E	GSAGALGPQGPPGAPGVRGFQGQKG	GSAGALGPQGPPEAPGVRGFQGQKG	10.0	4.0	unscreened	-	2098_20:61461740-61461740 G>A_GSAGALGPQGPPEAPGVRGFQGQKG
6:30889439-30889439 G>A	1.0	2098	MELANOMA	-	-	-	-	VARS2	ENST00000321897,p.R569K|uc003nsc.2,p.R569K|NM_001167734,p.R599K|uc011dmy.2,p.R429K|ENST00000416670,p.R569K|uc011dmx.2,p.R569K|ENST00000541562,p.R599K|uc011dna.2,p.R567K|NM_001167733,p.R429K|uc011dmz.2,p.R599K|ENST00000542001,p.R429K|NM_020442,p.R569K	retained_intron, protein_coding, processed_transcript	uc011dna.2	nonsynonymous SNV	exon17	c.G1700A	p.R567K	AEAREVAAELTGRPGAELTLERDPD	AEAREVAAELTGKPGAELTLERDPD	9.0	2.0	unscreened	-	2098_6:30889439-30889439 G>A_AEAREVAAELTGKPGAELTLERDPD
16:11272474-11272474 C>T	1.0	2098	MELANOMA	-	-	-	-	CLEC16A	uc002dap.3,p.P117L|uc021tcy.1,p.P1030L|ENST00000409790,p.P1030L|ENST00000381822,p.P117L|NM_015226,p.P1030L	retained_intron, protein_coding, processed_transcript	uc021tcy.1	nonsynonymous SNV	exon24	c.C3089T	p.P1030L	LRSLTGMPPLSTPAAACTEPVGEEA	LRSLTGMPPLSTLAAACTEPVGEEA	7.0	10.0	unscreened	-	2098_16:11272474-11272474 C>T_LRSLTGMPPLSTLAAACTEPVGEEA
1:36354145-36354145 C>T	1.0	2098	MELANOMA	-	-	-	-	AGO1	NM_012199,p.P48L|uc001bzl.3,p.P48L|ENST00000373204,p.P48L	protein_coding	uc001bzl.3	nonsynonymous SNV	exon2	c.C143T	p.P48L	IKLLANYFEVDIPKIDVYHYEVDIK	IKLLANYFEVDILKIDVYHYEVDIK	6.0	9.0	unscreened	-	2098_1:36354145-36354145 C>T_IKLLANYFEVDILKIDVYHYEVDIK
19:9451832-9451832 A>T	1.0	2098	MELANOMA	-	-	-	-	ZNF559	ENST00000586255,p.Q100L	protein_coding, processed_transcript	ENST00000586255	nonsynonymous SNV	exon6	c.A299T	p.Q100L	NTKWSAPQQNFLQGKTSSVVEMSLT	NTKWSAPQQNFLLGKTSSVVEMSLT	8.0	7.0	unscreened	-	2098_19:9451832-9451832 A>T_NTKWSAPQQNFLLGKTSSVVEMSLT
6:24467144-24467144 G>A	0.0	2098	MELANOMA	-	-	-	-	GPLD1	uc010jpr.1,p.S63F|uc003ned.2,p.S226F|uc010jps.1,p.S226F|ENST00000230036,p.S226F|NM_001503,p.S226F	retained_intron, protein_coding, processed_transcript	uc010jps.1	nonsynonymous SNV	exon9	c.C677T	p.S226F	QFLEMYGEMLAVSKLYPTYSTKSPF	QFLEMYGEMLAVFKLYPTYSTKSPF	6.0	3.0	unscreened	-	2098_6:24467144-24467144 G>A_QFLEMYGEMLAVFKLYPTYSTKSPF
19:9451832-9451832 A>T	1.0	2098	MELANOMA	-	-	-	-	ZNF559	ENST00000587557,p.Q136L|ENST00000603380,p.Q72L|uc021uok.1,p.Q72L|uc010xkn.2,p.Q64L|ENST00000605750,p.Q58L|ENST00000393883,p.Q72L|NM_001202406,p.Q136L|NM_032497,p.Q72L|NM_001202407,p.Q30L|uc021uoj.1,p.Q30L|uc002mle.4,p.Q136L	protein_coding, processed_transcript	uc021uok.1	nonsynonymous SNV	exon6	c.A215T	p.Q72L	NTKWSAPQQNFLQGKTSSVVEMERN	NTKWSAPQQNFLLGKTSSVVEMERN	8.0	7.0	unscreened	-	2098_19:9451832-9451832 A>T_NTKWSAPQQNFLLGKTSSVVEMERN
19:9451832-9451832 A>T	1.0	2098	MELANOMA	-	-	-	-	ZNF559	NM_001202412,p.Q72L|NM_001202408,p.Q136L|uc010dwl.2,p.Q136L|uc021uom.1,p.Q72L|ENST00000317221,p.Q72L|NM_001202411,p.Q72L|uc010dwk.2,p.Q100L|ENST00000585352,p.Q72L|uc002mlf.3,p.Q72L|uc021uol.1,p.Q72L|NM_001202410,p.Q72L|ENST00000592896,p.Q100L|NM_001202409,p.Q100L	protein_coding, processed_transcript	uc021uom.1	nonsynonymous SNV	exon6	c.A215T	p.Q72L	NTKWSAPQQNFLQGKTSSVVEMNSE	NTKWSAPQQNFLLGKTSSVVEMNSE	8.0	7.0	unscreened	-	2098_19:9451832-9451832 A>T_NTKWSAPQQNFLLGKTSSVVEMNSE
19:9451832-9451832 A>T	1.0	2098	MELANOMA	-	-	-	-	ZNF559	ENST00000591652,p.Q40L	protein_coding, processed_transcript	ENST00000591652	nonsynonymous SNV	exon2	c.A119T	p.Q40L	NTKWSAPQQNFLQGKTSSVVEMETN	NTKWSAPQQNFLLGKTSSVVEMETN	8.0	7.0	unscreened	-	2098_19:9451832-9451832 A>T_NTKWSAPQQNFLLGKTSSVVEMETN
19:9451832-9451832 A>T	1.0	2098	MELANOMA	-	-	-	-	ZNF559	ENST00000605071,p.Q72L|ENST00000603024,p.Q64L	protein_coding, processed_transcript	ENST00000605071	nonsynonymous SNV	exon5	c.A215T	p.Q72L	NTKWSAPQQNFLQGKTSSVVEMGWV	NTKWSAPQQNFLLGKTSSVVEMGWV	8.0	7.0	unscreened	-	2098_19:9451832-9451832 A>T_NTKWSAPQQNFLLGKTSSVVEMGWV
12:993926-993926 C>T	1.0	2098	MELANOMA	-	-	-	-	WNK1	NM_001184985,p.P1579L|ENST00000315939,p.P1319L|NM_014823,p.P1072L|uc001qio.4,p.P1319L|ENST00000530271,p.P1817L|NM_018979,p.P1319L|uc031qfk.1,p.P1732L|NM_213655,p.P1571L|ENST00000340908,p.P912L|uc001qir.4,p.P492L|ENST00000535572,p.P1072L|ENST00000537687,p.P1579L|uc021qst.1,p.P1571L|uc021qss.1,p.P1579L|uc001qip.4,p.P1072L	retained_intron, protein_coding, processed_transcript	uc031qfk.1	nonsynonymous SNV	exon20	c.C5195T	p.P1732L	FSELRRAQMTEGPNTAPPNFSHTGP	FSELRRAQMTEGLNTAPPNFSHTGP	9.0	9.0	unscreened	-	2098_12:993926-993926 C>T_FSELRRAQMTEGLNTAPPNFSHTGP
9:137620538-137620538 G>A	1.0	2098	MELANOMA	-	-	-	-	COL5A1	NM_001278074,p.G270D|NM_000093,p.G270D|uc031tfl.1,p.G270D|uc004cfe.4,p.G270D|ENST00000371817,p.G270D	retained_intron, protein_coding, processed_transcript	uc031tfl.1	nonsynonymous SNV	exon6	c.G809A	p.G270D	NPDEYYTEGDGEGETYYYEYPYYED	NPDEYYTEGDGEDETYYYEYPYYED	7.0	10.0	unscreened	-	2098_9:137620538-137620538 G>A_NPDEYYTEGDGEDETYYYEYPYYED
9:114135480-114135480 T>G	1.0	2098	MELANOMA	-	-	-	-	KIAA0368	uc004bfe.1,p.K1614Q|ENST00000338205,p.K1436Q|ENST00000259335,p.K1614Q|NM_001080398,p.K1614Q	protein_coding, processed_transcript	uc004bfe.1	nonsynonymous SNV	exon42	c.A4840C	p.K1614Q	TSRDSSTEKLLQKLNGWYMEKEEPI	TSRDSSTEKLLQQLNGWYMEKEEPI	7.0	10.0	unscreened	-	2098_9:114135480-114135480 T>G_TSRDSSTEKLLQQLNGWYMEKEEPI
19:42880208-42880208 C>T	1.0	2098	MELANOMA	-	-	-	-	MEGF8	NM_001410,p.L2540F|uc002otn.4,p.L201F|uc002otl.4,p.L2540F|uc002otm.5,p.L2607F|NM_001271938,p.L2607F|ENST00000251268,p.L2607F|ENST00000334370,p.L2540F|ENST00000378073,p.L201F	retained_intron, protein_coding	uc002otn.4	nonsynonymous SNV	exon4	c.C601T	p.L201F	RLVITYPHEHHALKSSRFYLLLLGV	RLVITYPHEHHAFKSSRFYLLLLGV	8.0	6.0	unscreened	-	2098_19:42880208-42880208 C>T_RLVITYPHEHHAFKSSRFYLLLLGV
7:121773731-121773731 G>A	1.0	2098	MELANOMA	-	-	-	-	AASS	uc003vka.3,p.S17F|ENST00000431170,p.S17F|NM_005763,p.S17F|uc003vkb.3,p.S17F|ENST00000358954,p.S17F|ENST00000417368,p.S17F|ENST00000393376,p.S17F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vkb.3	nonsynonymous SNV	exon2	c.C50T	p.S17F	HRTGLGRLGVSLSKGLHHKAVLAVR	HRTGLGRLGVSLFKGLHHKAVLAVR	7.0	3.0	unscreened	-	2098_7:121773731-121773731 G>A_HRTGLGRLGVSLFKGLHHKAVLAVR
15:83725248-83725248 T>C	1.0	2098	MELANOMA	-	-	-	-	BTBD1	uc002bjn.3,p.T151A|uc002bjo.3,p.T151A|ENST00000379403,p.T151A|ENST00000261721,p.T151A|NM_025238,p.T151A|NM_001011885,p.T151A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bjo.3	nonsynonymous SNV	exon2	c.A451G	p.T151A	DEVQIGPETVMTTLYTAKKYAVPAL	DEVQIGPETVMTALYTAKKYAVPAL	10.0	1.0	unscreened	-	2098_15:83725248-83725248 T>C_DEVQIGPETVMTALYTAKKYAVPAL
17:38296959-38296959 G>A	1.0	2098	MELANOMA	-	-	-	-	CASC3	uc002hue.3,p.G53E|ENST00000264645,p.G53E|uc010cws.1,p.G53E|NM_007359,p.G53E|uc010cwt.1,p.G53E	retained_intron, protein_coding, nonsense_mediated_decay	uc010cwt.1	nonsynonymous SNV	exon1	c.G158A	p.G53E	GGGGSGSLPSQRGGRTGALHLRRVE	GGGGSGSLPSQREGRTGALHLRRVE	8.0	2.0	unscreened	-	2098_17:38296959-38296959 G>A_GGGGSGSLPSQREGRTGALHLRRVE
15:34825103-34825103 C>T	1.0	2098	MELANOMA	-	-	-	-	GOLGA8B	NM_001023567,p.V77I|ENST00000438958,p.V107I|uc001ziq.3,p.V77I|ENST00000342314,p.V77I|ENST00000267731,p.V77I	retained_intron, protein_coding, processed_transcript	uc001ziq.3	nonsynonymous SNV	exon3	c.G229A	p.V77I	HARQSPCQEQAAVLNSRSIKISRLN	HARQSPCQEQAAILNSRSIKISRLN	9.0	4.0	unscreened	-	2098_15:34825103-34825103 C>T_HARQSPCQEQAAILNSRSIKISRLN
8:146157649-146157649 G>A	1.0	2098	MELANOMA	-	-	-	-	ZNF16	NM_001029976,p.P175L|uc003zet.3,p.P175L|NM_006958,p.P175L|ENST00000532351,p.P175L|ENST00000276816,p.P175L|ENST00000394909,p.P175L|uc003zeu.3,p.P175L	retained_intron, protein_coding	uc003zeu.3	nonsynonymous SNV	exon3	c.C524T	p.P175L	SLSPNLMACQEIPTEERPHPYDMGG	SLSPNLMACQEILTEERPHPYDMGG	5.0	6.0	unscreened	-	2098_8:146157649-146157649 G>A_SLSPNLMACQEILTEERPHPYDMGG
8:75898308-75898308 C>T	1.0	2098	MELANOMA	-	-	-	-	CRISPLD1	NM_031461,p.A29V|uc003yan.3,p.A29V|ENST00000262207,p.A29V|ENST00000520277,p.A29V	protein_coding, processed_transcript	uc003yan.3	nonsynonymous SNV	exon2	c.C86T	p.A29V	MARAIPAMVVPNATLLEKLLEKYMD	MARAIPAMVVPNVTLLEKLLEKYMD	7.0	3.0	unscreened	-	2098_8:75898308-75898308 C>T_MARAIPAMVVPNVTLLEKLLEKYMD
7:288306-288306 C>T	1.0	2098	MELANOMA	-	-	-	-	FAM20C	ENST00000313766,p.P328S|uc003sip.3,p.P328S|NM_020223,p.P328S	retained_intron, protein_coding, processed_transcript	uc003sip.3	nonsynonymous SNV	exon5	c.C982T	p.P328S	HLDRILDFRRVPPVAGRMVNMTKEI	HLDRILDFRRVPSVAGRMVNMTKEI	8.0	3.0	unscreened	-	2098_7:288306-288306 C>T_HLDRILDFRRVPSVAGRMVNMTKEI
21:38877677-38877677 A>T	1.0	2098	MELANOMA	-	-	-	-	DYRK1A	NM_130438,p.H444L|NM_130436,p.H435L|ENST00000338785,p.H444L|ENST00000398960,p.H444L|ENST00000339659,p.H435L|uc011aei.2,p.H205L|ENST00000321219,p.H444L|NM_001396,p.H444L|uc002ywj.3,p.H435L|NM_101395,p.H444L|uc002ywk.3,p.H444L|ENST00000451934,p.H444L|uc002ywi.3,p.H444L|ENST00000398956,p.H444L|ENST00000455387,p.H216L|uc002ywm.3,p.H444L	protein_coding, processed_transcript	uc011aei.2	nonsynonymous SNV	exon5	c.A614T	p.H205L	GGPGGRRAGESGHTVADYLKFKDLI	GGPGGRRAGESGLTVADYLKFKDLI	9.0	6.0	unscreened	-	2098_21:38877677-38877677 A>T_GGPGGRRAGESGLTVADYLKFKDLI
17:11520759-11520759 C>G	0.0	2098	MELANOMA	-	-	-	-	DNAH9	ENST00000454412,p.H312Q|uc002gne.3,p.H312Q|NM_001372,p.H312Q|ENST00000262442,p.H312Q	retained_intron, protein_coding, processed_transcript	uc002gne.3	nonsynonymous SNV	exon5	c.C936G	p.H312Q	VAALAEAQDIHVHLIPLQRHLEALE	VAALAEAQDIHVQLIPLQRHLEALE	9.0	1.0	unscreened	-	2098_17:11520759-11520759 C>G_VAALAEAQDIHVQLIPLQRHLEALE
7:143556071-143556071 A>G	0.0	2098	MELANOMA	-	-	-	-	FAM115A	NM_001206938,p.V784A|NM_001206941,p.V360A|uc003wdo.2,p.V784A|uc011ktu.2,p.V360A|NM_014719,p.V784A|ENST00000355951,p.V784A|uc003wdp.2,p.V784A|ENST00000479870,p.V784A	protein_coding, processed_transcript	uc011ktu.2	nonsynonymous SNV	exon6	c.T1079C	p.V360A	PHTTEATCNLWCVYVHETVLGIPRS	PHTTEATCNLWCAYVHETVLGIPRS	8.0	1.0	unscreened	-	2098_7:143556071-143556071 A>G_PHTTEATCNLWCAYVHETVLGIPRS
20:62366038-62366038 C>T	1.0	2098	MELANOMA	-	-	-	-	ZGPAT	ENST00000328969,p.L305F|NM_032527,p.L305F|uc002ygk.3,p.L305F	retained_intron, protein_coding, processed_transcript	uc002ygk.3	nonsynonymous SNV	exon5	c.C913T	p.L305F	GSDAVDSAQSSALCPSLAVVGSDAV	GSDAVDSAQSSAFCPSLAVVGSDAV	9.0	8.0	unscreened	-	2098_20:62366038-62366038 C>T_GSDAVDSAQSSAFCPSLAVVGSDAV
3:113135426-113135426 G>A	1.0	2098	MELANOMA	-	-	-	-	CFAP44	ENST00000295868,p.P207S|NM_001164496,p.P207S|uc003eae.2,p.P207S|ENST00000393845,p.P207S|uc003ead.2,p.P207S|NM_018338,p.P207S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003eae.2	nonsynonymous SNV	exon6	c.C619T	p.P207S	KTYFTVAEKGSFPDIIIYEYPSLRP	KTYFTVAEKGSFSDIIIYEYPSLRP	7.0	9.0	unscreened	-	2098_3:113135426-113135426 G>A_KTYFTVAEKGSFSDIIIYEYPSLRP
13:36245064-36245064 G>A	1.0	2098	MELANOMA	-	-	-	2	NBEA	ENST00000537702,p.G719D|ENST00000400445,p.G2926D|uc010tef.2,p.G719D|uc021rid.1,p.G2926D|ENST00000379939,p.G2923D|ENST00000379922,p.G504D|uc010abi.3,p.G1584D|ENST00000540320,p.G2926D|ENST00000310336,p.G2926D|uc001uvd.3,p.G504D|NM_001204197,p.G719D|NM_015678,p.G2926D	protein_coding, processed_transcript	uc021rid.1	nonsynonymous SNV	exon58	c.G8777A	p.G2926D	HDQRTLITGMASGSIVAFNIDFNRW	HDQRTLITGMASDSIVAFNIDFNRW	7.0	6.0	unscreened	-	2098_13:36245064-36245064 G>A_HDQRTLITGMASDSIVAFNIDFNRW
2:27448604-27448604 C>T	1.0	2098	MELANOMA	-	-	-	-	CAD	ENST00000403525,p.P551L|NM_004341,p.P551L|ENST00000264705,p.P551L|uc010eyw.3,p.P551L|uc002rji.3,p.P551L	retained_intron, protein_coding, processed_transcript	uc010eyw.3	nonsynonymous SNV	exon12	c.C1652T	p.P551L	EQAQAAAERLGYPVLVRAAFALGGL	EQAQAAAERLGYLVLVRAAFALGGL	7.0	6.0	unscreened	-	2098_2:27448604-27448604 C>T_EQAQAAAERLGYLVLVRAAFALGGL
20:60937485-60937485 C>T	1.0	2098	MELANOMA	-	-	-	-	LAMA5	ENST00000370692,p.E141K|uc021wfw.1,p.E141K|NM_005560,p.E141K|ENST00000252999,p.E141K|uc002ycq.3,p.E141K|ENST00000370677,p.E141K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wfw.1	nonsynonymous SNV	exon2	c.G421A	p.E141K	QSPPLSRGLEYNEVNVTLDLGQVFH	QSPPLSRGLEYNKVNVTLDLGQVFH	9.0	3.0	unscreened	-	2098_20:60937485-60937485 C>T_QSPPLSRGLEYNKVNVTLDLGQVFH
12:57005955-57005955 G>A	1.0	2098	MELANOMA	-	-	-	-	BAZ2A	uc001slp.1,p.P404L|ENST00000549884,p.P404L|ENST00000379441,p.P376L|uc001slq.1,p.P406L|ENST00000179765,p.P374L|NM_013449,p.P406L|ENST00000551812,p.P406L|NM_001300905,p.P404L|uc009zow.1,p.P374L	retained_intron, protein_coding, processed_transcript	uc009zow.1	nonsynonymous SNV	exon6	c.C1121T	p.P374L	QEEMETQSSDFPPSLTQPAPDQSST	QEEMETQSSDFPLSLTQPAPDQSST	10.0	6.0	unscreened	-	2098_12:57005955-57005955 G>A_QEEMETQSSDFPLSLTQPAPDQSST
9:126144231-126144231 G>A	0.0	2098	MELANOMA	-	-	-	-	DENND1A	ENST00000394219,p.S848F|ENST00000542603,p.S622F|uc011lzm.1,p.S848F|uc010mwh.1,p.S258F|uc004bny.1,p.S619F|NM_020946,p.S837F|uc011lzl.1,p.S655F|ENST00000373624,p.S837F|uc004bnz.1,p.S837F	protein_coding, processed_transcript	uc011lzm.1	nonsynonymous SNV	exon21	c.C2543T	p.S848F	PFPQPPLNPFVPSMPAAPPTLPLVS	PFPQPPLNPFVPFMPAAPPTLPLVS	6.0	8.0	unscreened	-	2098_9:126144231-126144231 G>A_PFPQPPLNPFVPFMPAAPPTLPLVS
13:23913343-23913343 G>A	1.0	2098	MELANOMA	-	-	-	-	SACS	NM_014363,p.L1558F|NM_001278055,p.L1411F|ENST00000402364,p.L808F|ENST00000382298,p.L1558F|uc001uon.3,p.L1558F|uc001uoo.3,p.L1411F|ENST00000382292,p.L1558F	protein_coding, processed_transcript	uc001uoo.3	nonsynonymous SNV	exon8	c.C4231T	p.L1411F	KRGEVDKVGKFGLGFNSVYHITDIP	KRGEVDKVGKFGFGFNSVYHITDIP	7.0	10.0	unscreened	-	2098_13:23913343-23913343 G>A_KRGEVDKVGKFGFGFNSVYHITDIP
1:9324914-9324914 G>A	1.0	2098	MELANOMA	-	-	ID=COSM1667123;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	H6PD	uc001apt.3,p.A788T|ENST00000377403,p.A788T|NM_001282587,p.A799T|NM_004285,p.A788T|ENST00000602477,p.A799T	protein_coding, processed_transcript	uc001apt.3	nonsynonymous SNV	exon5	c.G2362A	p.A788T	HSGQLVWYMDYDAFLG	HSGQLVWYMDYDTFLG	5.0	2.0	unscreened	-	2098_1:9324914-9324914 G>A_HSGQLVWYMDYDTFLG
3:56667220-56667220 G>A	1.0	2098	MELANOMA	-	-	-	-	FAM208A	NM_001112736,p.S1200F|ENST00000493960,p.S1200F|uc003dic.4,p.S763F|ENST00000355628,p.S1139F|NM_015224,p.S763F|uc003dib.4,p.S258F|uc003die.4,p.S1200F|ENST00000431842,p.S763F|uc003did.4,p.S1139F	retained_intron, protein_coding, processed_transcript	uc003die.4	nonsynonymous SNV	exon18	c.C3599T	p.S1200F	EETTKSPSDVNISAQPALSNFISQL	EETTKSPSDVNIFAQPALSNFISQL	9.0	6.0	unscreened	-	2098_3:56667220-56667220 G>A_EETTKSPSDVNIFAQPALSNFISQL
19:5219450-5219450 G>A	1.0	2098	MELANOMA	-	-	-	-	PTPRS	ENST00000372412,p.P1266L|uc002mbx.3,p.P838L|ENST00000592099,p.P834L|ENST00000587303,p.P1265L|NM_130855,p.P838L|ENST00000348075,p.P1243L|NM_130854,p.P1243L|uc002mbu.1,p.P834L|uc002mbw.3,p.P1243L|ENST00000353284,p.P834L|ENST00000262963,p.P1261L|ENST00000357368,p.P1265L|uc002mbv.3,p.P1265L|NM_130853,p.P834L|ENST00000588012,p.P1243L|NM_002850,p.P1265L|uc002mby.3,p.P834L|uc010xin.2,p.P834L	retained_intron, protein_coding, processed_transcript	uc010xin.2	nonsynonymous SNV	exon14	c.C2501T	p.P834L	SEPTFAASPFSDPFQLDNPDPQPIV	SEPTFAASPFSDLFQLDNPDPQPIV	9.0	7.0	unscreened	-	2098_19:5219450-5219450 G>A_SEPTFAASPFSDLFQLDNPDPQPIV
7:140453136-140453136 A>T	1.0	2098	MELANOMA	-	-	ID=COSM476;OCCURENCE=3(adrenal_gland),3(urinary_tract),4(genital_tract),7(pancreas),16(liver),68(eye),2(prostate),4161(large_intestine),21(biliary_tract),11(breast),4377(skin),9(small_intestine),1(autonomic_ganglia),20(pituitary),242(ovary),32(soft_tissue),7(testis),459(haematopoietic_and_lymphoid_tissue),9534(thyroid),78(lung),1(meninges),12(upper_aerodigestive_tract),717(NS),15(bone),2(oesophagus),4(stomach),228(central_nervous_system)	1	BRAF	NM_004333,p.V600E|ENST00000479537,p.V28E|uc003vwc.4,p.V600E|ENST00000288602,p.V600E	retained_intron, protein_coding, nonsense_mediated_decay	uc003vwc.4	nonsynonymous SNV	exon15	c.T1799A	p.V600E	LTVKIGDFGLATVKSRWSGSHQFEQ	LTVKIGDFGLATEKSRWSGSHQFEQ	7.0	6.0	unscreened	-	2098_7:140453136-140453136 A>T_LTVKIGDFGLATEKSRWSGSHQFEQ
17:80615992-80615992 A>T	1.0	2098	MELANOMA	-	-	-	-	RAB40B	ENST00000571995,p.L195H|NM_006822,p.L195H|ENST00000269347,p.L16H|uc002kft.3,p.L195H	retained_intron, protein_coding, processed_transcript	uc002kft.3	nonsynonymous SNV	exon6	c.T584A	p.L195H	LWRPSKVLSLQDLCCRAVVSCTPVH	LWRPSKVLSLQDHCCRAVVSCTPVH	7.0	10.0	unscreened	-	2098_17:80615992-80615992 A>T_LWRPSKVLSLQDHCCRAVVSCTPVH
22:43267472-43267472 T>A	1.0	2098	MELANOMA	-	-	-	-	PACSIN2	ENST00000263246,p.D451V|uc003bdg.4,p.D451V|ENST00000407585,p.D410V|uc010gzg.3,p.D451V|ENST00000337959,p.D410V|ENST00000403744,p.D451V|uc003bdf.4,p.D410V|ENST00000402229,p.D451V|NM_001184970,p.D451V|NM_001184971,p.D410V|NM_007229,p.D451V	protein_coding, processed_transcript, nonsense_mediated_decay	uc010gzg.3	nonsynonymous SNV	exon11	c.A1352T	p.D451V	GQEHDELSFKAGDELTKMEDEDEQG	GQEHDELSFKAGVELTKMEDEDEQG	10.0	2.0	unscreened	-	2098_22:43267472-43267472 T>A_GQEHDELSFKAGVELTKMEDEDEQG
13:42877218-42877218 C>T	1.0	2098	MELANOMA	-	-	-	-	AKAP11	ENST00000025301,p.P1446S|NM_016248,p.P1446S|uc001uys.2,p.P1446S	protein_coding	uc001uys.2	nonsynonymous SNV	exon8	c.C4336T	p.P1446S	FCKNQTCERTLDPYRNEVSQLYSFS	FCKNQTCERTLDSYRNEVSQLYSFS	8.0	9.0	unscreened	-	2098_13:42877218-42877218 C>T_FCKNQTCERTLDSYRNEVSQLYSFS
1:109556543-109556543 G>A	0.0	2098	MELANOMA	-	-	-	-	WDR47	ENST00000361054,p.R55C|ENST00000357672,p.R55C|uc001dwk.2,p.R55C	protein_coding	uc001dwk.2	nonsynonymous SNV	exon3	c.C163T	p.R55C	GLFSDDMLFLRFRYIILKQKFLEAL	GLFSDDMLFLRFCYIILKQKFLEAL	6.0	2.0	unscreened	-	2098_1:109556543-109556543 G>A_GLFSDDMLFLRFCYIILKQKFLEAL
1:79093872-79093872 A>T	1.0	2098	MELANOMA	-	-	-	-	IFI44L	ENST00000370751,p.N91I|ENST00000450498,p.N68I|NM_006820,p.N91I|uc010oro.2,p.N91I	retained_intron, protein_coding, processed_transcript	uc010oro.2	nonsynonymous SNV	exon2	c.A272T	p.N91I	PNDSLWFSLQKKNDTTEIETLLLNT	PNDSLWFSLQKKIDTTEIETLLLNT	8.0	10.0	unscreened	-	2098_1:79093872-79093872 A>T_PNDSLWFSLQKKIDTTEIETLLLNT
X:12734276-12734276 A>T	1.0	2098	MELANOMA	-	-	-	-	FRMPD4	uc011mij.2,p.Q558H|NM_014728,p.Q566H|ENST00000380682,p.Q566H|uc004cuz.2,p.Q566H	protein_coding	uc011mij.2	nonsynonymous SNV	exon16	c.A1674T	p.Q558H	IPQMTTFIGEGEQEAQITYIDSKQK	IPQMTTFIGEGEHEAQITYIDSKQK	4.0	4.0	unscreened	-	2098_X:12734276-12734276 A>T_IPQMTTFIGEGEHEAQITYIDSKQK
8:94748593-94748593 G>A	1.0	2098	MELANOMA	-	-	-	-	RBM12B	NM_203390,p.P16S|uc003yfz.3,p.P16S|ENST00000399300,p.P16S|ENST00000520560,p.P16S|ENST00000517700,p.P16S|ENST00000521947,p.P16S|uc022aye.1,p.P16S|ENST00000518597,p.P16S|ENST00000519109,p.P16S	protein_coding, processed_transcript	uc022aye.1	nonsynonymous SNV	exon1	c.C46T	p.P16S	VIRLLGLPFIAGPVDIRHFFTGLTI	VIRLLGLPFIAGSVDIRHFFTGLTI	8.0	3.0	unscreened	-	2098_8:94748593-94748593 G>A_VIRLLGLPFIAGSVDIRHFFTGLTI
21:47904687-47904687 G>A	1.0	2098	MELANOMA	-	-	-	-	DIP2A	NM_001146115,p.G37R|ENST00000457905,p.G37R|NM_206889,p.G37R|uc011afz.1,p.G37R|ENST00000417564,p.G37R|uc002zjl.3,p.G37R|NM_015151,p.G37R|NM_001146116,p.G37R|ENST00000400274,p.G37R|uc002zjn.3,p.G37R|uc010gql.3,p.G37R|uc002zjo.2,p.G37R|NM_206890,p.G37R|ENST00000435722,p.G37R|NM_206891,p.G37R|ENST00000466639,p.G37R|ENST00000318711,p.G37R|uc002zjm.3,p.G37R	retained_intron, protein_coding, processed_transcript	uc011afz.1	nonsynonymous SNV	exon2	c.G109A	p.G37R	ELELSEGDITQKGYEKKRAKLLARY	ELELSEGDITQKRYEKKRAKLLARY	9.0	9.0	unscreened	-	2098_21:47904687-47904687 G>A_ELELSEGDITQKRYEKKRAKLLARY
4:41941291-41941291 A>T	1.0	2098	MELANOMA	-	-	-	-	TMEM33	ENST00000508448,p.R73S|ENST00000325094,p.R73S|NM_018126,p.R73S|uc003gwi.2,p.R73S|ENST00000513702,p.R73S|ENST00000504986,p.R73S	retained_intron, protein_coding, nonsense_mediated_decay	uc003gwi.2	nonsynonymous SNV	exon3	c.A219T	p.R73S	ANALTSALRLHQRLPHFQLSRAFLA	ANALTSALRLHQSLPHFQLSRAFLA	10.0	5.0	unscreened	-	2098_4:41941291-41941291 A>T_ANALTSALRLHQSLPHFQLSRAFLA
11:123777236-123777236 G>A	0.0	2098	MELANOMA	-	-	-	-	OR8D4	NM_001005197,p.G33E|uc010saa.2,p.G33E|ENST00000321355,p.G33E	protein_coding	uc010saa.2	nonsynonymous SNV	exon1	c.G98A	p.G33E	AELQLPLFCLFLGIYTVTVVGNLSM	AELQLPLFCLFLEIYTVTVVGNLSM	1.0	5.0	unscreened	-	2098_11:123777236-123777236 G>A_AELQLPLFCLFLEIYTVTVVGNLSM
5:140228438-140228438 G>A	1.0	2098	MELANOMA	-	-	-	-	PCDHA9	uc003lht.1,p.D120N|uc003lhu.2,p.D120N|NM_014005,p.D120N|NM_031857,p.D120N|ENST00000532602,p.D120N|ENST00000378122,p.D120N	protein_coding	uc003lhu.2	nonsynonymous SNV	exon1	c.G358A	p.D120N	VIVDRPLQVFHVDVEVKDINDNPPV	VIVDRPLQVFHVNVEVKDINDNPPV	5.0	5.0	unscreened	-	2098_5:140228438-140228438 G>A_VIVDRPLQVFHVNVEVKDINDNPPV
2:97428046-97428046 C>T	1.0	2098	MELANOMA	-	-	-	-	CNNM4	ENST00000377075,p.P437L|uc002swx.3,p.P437L|NM_020184,p.P437L	protein_coding, processed_transcript	uc002swx.3	nonsynonymous SNV	exon1	c.C1310T	p.P437L	KDLAFVDPDDCTPLKTITRFYNHPV	KDLAFVDPDDCTLLKTITRFYNHPV	5.0	9.0	unscreened	-	2098_2:97428046-97428046 C>T_KDLAFVDPDDCTLLKTITRFYNHPV
12:121687615-121687615 G>A	0.0	2098	MELANOMA	-	-	-	-	CAMKK2	ENST00000347034,p.S433L|ENST00000446440,p.S433L|uc001tzy.3,p.S433L|NM_172215,p.S433L|uc001tzw.3,p.S433L|NM_172216,p.S433L|uc001uac.3,p.S433L|NM_153500,p.S433L|ENST00000538733,p.S433L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uac.3	nonsynonymous SNV	exon13	c.C1298T	p.S433L	DLITRMLDKNPESRIVVPEIKILVK	DLITRMLDKNPELRIVVPEIKILVK	7.0	7.0	unscreened	-	2098_12:121687615-121687615 G>A_DLITRMLDKNPELRIVVPEIKILVK
12:121687615-121687615 G>A	0.0	2098	MELANOMA	-	-	-	-	CAMKK2	NM_153499,p.S433L|uc001tzz.2,p.S220L|ENST00000545538,p.S220L|ENST00000404169,p.S433L|NM_001270486,p.S433L|uc001tzv.3,p.S433L|uc001uab.3,p.S433L|uc001tzt.3,p.S433L|ENST00000392473,p.S433L|ENST00000337174,p.S433L|ENST00000324774,p.S433L|ENST00000412367,p.S433L|NM_006549,p.S433L|ENST00000392474,p.S433L|ENST00000402834,p.S433L|uc001tzu.3,p.S433L|uc001uaa.2,p.S433L|NM_172226,p.S433L|uc001tzx.3,p.S433L|NM_172214,p.S433L|NM_001270485,p.S433L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uab.3	nonsynonymous SNV	exon13	c.C1298T	p.S433L	DLITRMLDKNPESRIVVPEIKLHPW	DLITRMLDKNPELRIVVPEIKLHPW	7.0	7.0	unscreened	-	2098_12:121687615-121687615 G>A_DLITRMLDKNPELRIVVPEIKLHPW
X:54491950-54491950 C>T	0.0	2098	MELANOMA	-	-	-	-	FGD1	uc004dtg.3,p.E524K|uc011moi.1,p.E282K|ENST00000375135,p.E524K|NM_004463,p.E524K	protein_coding	uc011moi.1	nonsynonymous SNV	exon5	c.G844A	p.E282K	HMLEPVQRIPRYELLLKDYLLKLPH	HMLEPVQRIPRYKLLLKDYLLKLPH	6.0	7.0	unscreened	-	2098_X:54491950-54491950 C>T_HMLEPVQRIPRYKLLLKDYLLKLPH
13:42789798-42789798 C>T	1.0	2098	MELANOMA	-	-	ID=COSM135630;OCCURENCE=1(skin)	-	DGKH	uc010tfj.2,p.P934S|ENST00000261491,p.P1070S|ENST00000337343,p.P1070S|uc001uyl.2,p.P1070S|NM_178009,p.P1070S|ENST00000538674,p.P825S|ENST00000536612,p.P934S|NM_001204506,p.P934S|ENST00000379274,p.P934S|uc010tfi.2,p.P825S|uc001uym.2,p.P1070S|uc010tfh.2,p.P1070S|uc001uyo.2,p.P934S|ENST00000540693,p.P1070S|NM_001204504,p.P1070S|NM_001204505,p.P934S|NM_152910,p.P1070S|NM_001297429,p.P825S	protein_coding, processed_transcript	uc010tfj.2	nonsynonymous SNV	exon24	c.C2800T	p.P934S	YNETESLLVGRVPLQLESPHEERVS	YNETESLLVGRVSLQLESPHEERVS	6.0	6.0	unscreened	-	2098_13:42789798-42789798 C>T_YNETESLLVGRVSLQLESPHEERVS
4:9783976-9783976 C>T	0.0	2098	MELANOMA	-	-	-	-	DRD5	ENST00000304374,p.P108L|NM_000798,p.P108L|uc003gmb.4,p.P108L	protein_coding	uc003gmb.4	nonsynonymous SNV	exon1	c.C323T	p.P108L	PWKAVAEVAGYWPFGAFCDVWVAFD	PWKAVAEVAGYWLFGAFCDVWVAFD	1.0	8.0	unscreened	-	2098_4:9783976-9783976 C>T_PWKAVAEVAGYWLFGAFCDVWVAFD
5:55265524-55265524 G>A	1.0	2098	MELANOMA	-	-	-	1	IL6ST	ENST00000381294,p.P75L|uc003jqr.3,p.P75L|ENST00000502326,p.P75L|uc010iwb.3,p.P75L|ENST00000381298,p.P75L|ENST00000536319,p.P75L|ENST00000503773,p.P75L|NM_002184,p.P75L|ENST00000522633,p.P75L|NM_001190981,p.P75L|ENST00000381287,p.P75L|ENST00000336909,p.P75L|uc003jqq.3,p.P75L|NM_175767,p.P75L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010iwb.3	nonsynonymous SNV	exon4	c.C224T	p.P75L	NYIVWKTNHFTIPKEQYTIINRTAS	NYIVWKTNHFTILKEQYTIINRTAS	10.0	5.0	unscreened	-	2098_5:55265524-55265524 G>A_NYIVWKTNHFTILKEQYTIINRTAS
19:55677278-55677278 T>G	1.0	2098	MELANOMA	-	-	-	-	DNAAF3	ENST00000528412,p.H59P|NM_178837,p.H106P|ENST00000527223,p.H127P|ENST00000532817,p.H41P|NM_001256714,p.H127P|ENST00000524407,p.H59P|NM_001256715,p.H59P|ENST00000391720,p.H106P|ENST00000526003,p.H59P|uc002qjl.2,p.H127P|ENST00000534170,p.H41P|uc002qjj.2,p.H106P|uc002qji.2,p.H59P|ENST00000534214,p.H59P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002qjl.2	nonsynonymous SNV	exon3	c.A380C	p.H127P	LDVLLLGSVDGRHLLRTLSRAKFWP	LDVLLLGSVDGRPLLRTLSRAKFWP	5.0	9.0	unscreened	-	2098_19:55677278-55677278 T>G_LDVLLLGSVDGRPLLRTLSRAKFWP
3:37090404-37090404 G>C	1.0	2098	MELANOMA	-	-	-	1	MLH1	ENST00000458205,p.D426H|uc003cgn.4,p.D426H|NM_001167619,p.D426H|ENST00000435176,p.D569H|NM_001167618,p.D426H|uc011aye.2,p.D426H|uc003cgl.3,p.D667H|NM_001258273,p.D426H|ENST00000455445,p.D426H|uc011ayc.2,p.D569H|NM_001258274,p.D426H|NM_000249,p.D667H|ENST00000536378,p.D426H|ENST00000231790,p.D667H|uc011ayd.2,p.D426H|uc010hgk.3,p.D254H|ENST00000539477,p.D426H|NM_001167617,p.D569H|uc003cgo.3,p.D426H|uc011ayb.2,p.D426H	protein_coding, processed_transcript, nonsense_mediated_decay	uc011aye.2	nonsynonymous SNV	exon18	c.G1276C	p.D426H	IFILRLATEVNWDEEKECFESLSKE	IFILRLATEVNWHEEKECFESLSKE	8.0	1.0	unscreened	-	2098_3:37090404-37090404 G>C_IFILRLATEVNWHEEKECFESLSKE
4:158057678-158057678 C>T	1.0	2098	MELANOMA	-	-	-	-	GLRB	uc003ipj.2,p.P119S|uc021xtp.1,p.P119S|ENST00000264428,p.P119S|uc021xtq.1,p.P119S|NM_001166061,p.P119S|NM_000824,p.P119S|ENST00000509282,p.P119S|ENST00000541722,p.P119S|NM_001166060,p.P119S	retained_intron, protein_coding, nonsense_mediated_decay	uc021xtq.1	nonsynonymous SNV	exon5	c.C355T	p.P119S	LRQKWNDPRLKLPSDFRGSDALTVD	LRQKWNDPRLKLSSDFRGSDALTVD	7.0	8.0	unscreened	-	2098_4:158057678-158057678 C>T_LRQKWNDPRLKLSSDFRGSDALTVD
8:145235195-145235195 C>A	0.0	2098	MELANOMA	-	-	-	-	MROH1	NM_001288814,p.P139T|ENST00000326134,p.P139T|NM_001099281,p.P139T|uc003zbi.4,p.P139T|uc011lla.1,p.P139T|uc003zbg.2,p.P139T|ENST00000423230,p.P139T|uc003zbh.4,p.P139T|uc003zbk.4,p.P139T|NM_001099280,p.P139T|ENST00000534366,p.P139T|uc010mft.3,p.P139T|NM_032450,p.P139T|ENST00000398656,p.P139T|ENST00000528919,p.P139T	retained_intron, protein_coding, processed_transcript	uc011lla.1	nonsynonymous SNV	exon5	c.C415A	p.P139T	EELLRRLHPGTLPHCAVLHTLASLS	EELLRRLHPGTLTHCAVLHTLASLS	6.0	1.0	unscreened	-	2098_8:145235195-145235195 C>A_EELLRRLHPGTLTHCAVLHTLASLS
5:140552972-140552972 G>A	1.0	2098	MELANOMA	-	-	-	-	PCDHB7	uc003lit.3,p.G186R|ENST00000231137,p.G186R|NM_018940,p.G186R	protein_coding	uc003lit.3	nonsynonymous SNV	exon1	c.G556A	p.G186R	PNAYFHINVHDSGEGNIYPELVLNQ	PNAYFHINVHDSREGNIYPELVLNQ	5.0	10.0	unscreened	-	2098_5:140552972-140552972 G>A_PNAYFHINVHDSREGNIYPELVLNQ
10:112540608-112540608 C>T	0.0	2098	MELANOMA	-	-	-	-	RBM20	NM_001134363,p.P81S|uc001kzf.2,p.P81S|ENST00000369519,p.P81S	retained_intron, protein_coding, processed_transcript	uc001kzf.2	nonsynonymous SNV	exon2	c.C241T	p.P81S	LDKNPFSVSNPNPLLPSPASLQLAQ	LDKNPFSVSNPNSLLPSPASLQLAQ	6.0	10.0	unscreened	-	2098_10:112540608-112540608 C>T_LDKNPFSVSNPNSLLPSPASLQLAQ
13:20567660-20567660 A>G	1.0	2098	MELANOMA	-	-	-	-	ZMYM2	uc001umt.3,p.T150A|uc009zzn.2,p.T150A|ENST00000382869,p.T150A|uc001ums.3,p.T150A|NM_001190964,p.T150A|ENST00000382874,p.T150A|ENST00000382871,p.T150A|uc001umr.3,p.T150A|uc021rgy.1,p.T150A|NM_003453,p.T150A|ENST00000382881,p.T150A|NM_001190965,p.T150A|uc001umq.3,p.T150A|NM_197968,p.T150A	protein_coding, processed_transcript	uc021rgy.1	nonsynonymous SNV	exon4	c.A448G	p.T150A	FIERRPPETKNRTNDVDFSTSSFSR	FIERRPPETKNRANDVDFSTSSFSR	10.0	5.0	unscreened	-	2098_13:20567660-20567660 A>G_FIERRPPETKNRANDVDFSTSSFSR
22:43529308-43529308 C>A	1.0	2098	MELANOMA	-	-	-	-	MCAT	NM_173467,p.R305I|uc003bdl.1,p.R305I|ENST00000290429,p.R305I	protein_coding, processed_transcript	uc003bdl.1	nonsynonymous SNV	exon4	c.G914T	p.R305I	PLVSVYSNVHAHRYRHPGHIHKLLA	PLVSVYSNVHAHIYRHPGHIHKLLA	8.0	4.0	unscreened	-	2098_22:43529308-43529308 C>A_PLVSVYSNVHAHIYRHPGHIHKLLA
6:26392718-26392718 C>G	0.0	2098	MELANOMA	-	-	-	-	BTN2A2	ENST00000482536,p.F155L|uc003nhq.3,p.F365L|NM_006995,p.F365L|NM_001197237,p.F365L|ENST00000352867,p.F249L|ENST00000356709,p.F365L|uc003nht.3,p.F365L|ENST00000416795,p.F365L|NM_001197239,p.F155L|ENST00000490025,p.F160L|uc003nhr.3,p.F249L|uc011dkh.2,p.F155L|NM_181531,p.F249L	retained_intron, protein_coding, nonsense_mediated_decay	uc011dkh.2	nonsynonymous SNV	exon6	c.C465G	p.F155L	PYRQRVPDNPERFDSQPCVLGWESF	PYRQRVPDNPERLDSQPCVLGWESF	9.0	1.0	unscreened	-	2098_6:26392718-26392718 C>G_PYRQRVPDNPERLDSQPCVLGWESF
1:161011635-161011635 G>A	1.0	2098	MELANOMA	-	-	-	-	USF1	ENST00000534633,p.A34V|uc001fxi.4,p.A93V|ENST00000368020,p.A93V|uc001fxj.4,p.A34V|NM_207005,p.A34V|NM_001276373,p.A93V|ENST00000368019,p.A93V|ENST00000368021,p.A93V|ENST00000435396,p.A34V|uc031pqv.1,p.A93V|NM_007122,p.A93V	retained_intron, protein_coding, nonsense_mediated_decay	uc031pqv.1	nonsynonymous SNV	exon6	c.C278T	p.A93V	ISGYPATQSMTQAVIQGAFTSDDAV	ISGYPATQSMTQVVIQGAFTSDDAV	9.0	2.0	unscreened	-	2098_1:161011635-161011635 G>A_ISGYPATQSMTQVVIQGAFTSDDAV
2:102836442-102836442 G>A	0.0	2098	MELANOMA	-	-	-	-	IL1RL2	ENST00000539491,p.G319E|NM_003854,p.G319E|uc002tbt.3,p.G201E|ENST00000441515,p.G201E|ENST00000264257,p.G319E|uc002tbs.3,p.G319E	protein_coding, processed_transcript	uc002tbt.3	nonsynonymous SNV	exon6	c.G602A	p.G201E	MEDYGLPFMCHAGVSTAYIILQLPA	MEDYGLPFMCHAEVSTAYIILQLPA	1.0	9.0	unscreened	-	2098_2:102836442-102836442 G>A_MEDYGLPFMCHAEVSTAYIILQLPA
3:88040125-88040125 G>A	0.0	2098	MELANOMA	-	-	-	-	HTR1F	uc021xbd.1,p.V76M|ENST00000319595,p.V76M|NM_000866,p.V76M|uc003dqr.2,p.V76M	protein_coding	uc021xbd.1	nonsynonymous SNV	exon1	c.G226A	p.V76M	SLAVTDFLVAVLVMPFSIVYIVRES	SLAVTDFLVAVLMMPFSIVYIVRES	1.0	8.0	unscreened	-	2098_3:88040125-88040125 G>A_SLAVTDFLVAVLMMPFSIVYIVRES
5:149386091-149386091 C>T	1.0	2098	MELANOMA	-	-	-	-	HMGXB3	ENST00000503427,p.P65S|NM_014983,p.P65S|ENST00000502717,p.P65S|uc003lrk.4,p.P65S	retained_intron, protein_coding, nonsense_mediated_decay	uc003lrk.4	nonsynonymous SNV	exon3	c.C193T	p.P65S	YYDIYLKVQQELPHLPQSEINKKIS	YYDIYLKVQQELSHLPQSEINKKIS	9.0	5.0	unscreened	-	2098_5:149386091-149386091 C>T_YYDIYLKVQQELSHLPQSEINKKIS
12:123699291-123699291 C>T	0.0	2098	MELANOMA	-	-	-	-	MPHOSPH9	NM_022782,p.G363R|ENST00000541076,p.G333R|ENST00000392425,p.G211R|ENST00000302373,p.G231R|uc001uel.3,p.G211R|ENST00000606320,p.G363R|ENST00000302349,p.G211R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uel.3	nonsynonymous SNV	exon3	c.G631A	p.G211R	ETPNAWMSDSGTGLTYWKLEEKDMH	ETPNAWMSDSGTRLTYWKLEEKDMH	8.0	6.0	unscreened	-	2098_12:123699291-123699291 C>T_ETPNAWMSDSGTRLTYWKLEEKDMH
2:198266801-198266801 C>G	1.0	2098	MELANOMA	-	-	-	1	SF3B1	uc002uue.3,p.A711P|ENST00000335508,p.A711P|NM_012433,p.A711P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002uue.3	nonsynonymous SNV	exon15	c.G2131C	p.A711P	QKVRTISALAIAALAEAATPYGIES	QKVRTISALAIAPLAEAATPYGIES	10.0	4.0	unscreened	-	2098_2:198266801-198266801 C>G_QKVRTISALAIAPLAEAATPYGIES
1:100357243-100357243 T>A	0.0	2098	MELANOMA	-	-	-	-	AGL	ENST00000361915,p.L1011I|uc001dsi.1,p.L1011I|ENST00000361522,p.L994I|ENST00000370163,p.L1011I|ENST00000361302,p.L995I|ENST00000294724,p.L1011I|NM_000643,p.L1011I|NM_000644,p.L1011I|uc001dsj.1,p.L1011I|uc001dsm.1,p.L995I|ENST00000370165,p.L1011I|ENST00000370161,p.L995I|NM_000645,p.L994I|NM_000646,p.L995I|NM_000028,p.L1011I|uc001dsn.1,p.L994I|NM_000642,p.L1011I|uc001dsl.1,p.L1011I|uc001dsk.1,p.L1011I	protein_coding, processed_transcript	uc001dsn.1	nonsynonymous SNV	exon21	c.T2980A	p.L994I	PRYLIPCYFDAILIGAYTTLLDTAW	PRYLIPCYFDAIIIGAYTTLLDTAW	6.0	3.0	unscreened	-	2098_1:100357243-100357243 T>A_PRYLIPCYFDAIIIGAYTTLLDTAW
4:73935260-73935260 G>T	0.0	2098	MELANOMA	-	-	ID=COSM1735351;OCCURENCE=1(pancreas)	-	COX18	uc010iih.1,p.P70T|NM_001300729,p.P73T	protein_coding, processed_transcript, nonsense_mediated_decay	uc010iih.1	nonsynonymous SNV	exon1	c.C208A	p.P70T	RLRRFLRAAPSAPLSQCGQWHQSLQ	RLRRFLRAAPSATLSQCGQWHQSLQ	7.0	1.0	unscreened	-	2098_4:73935260-73935260 G>T_RLRRFLRAAPSATLSQCGQWHQSLQ
11:60702757-60702757 G>A	1.0	2098	MELANOMA	-	-	-	-	TMEM132A	uc001nqi.3,p.E625K|NM_017870,p.E625K|uc001nqj.3,p.E624K|NM_178031,p.E624K|ENST00000453848,p.E624K|ENST00000005286,p.E625K	retained_intron, protein_coding, processed_transcript	uc001nqj.3	nonsynonymous SNV	exon10	c.G1870A	p.E624K	EVRSPLSDSILGEQALAVTDDKVSV	EVRSPLSDSILGKQALAVTDDKVSV	10.0	4.0	unscreened	-	2098_11:60702757-60702757 G>A_EVRSPLSDSILGKQALAVTDDKVSV
16:28493972-28493972 A>G	1.0	2098	MELANOMA	-	-	-	-	CLN3	uc002dqa.2,p.L322P|uc010bye.1,p.L271P|ENST00000354630,p.L271P|ENST00000565316,p.L271P|uc010vcx.1,p.L171P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vcx.1	nonsynonymous SNV	exon10	c.T512C	p.L171P	PESKPGSSSSLSLRERWTVFKVRMM	PESKPGSSSSLSPRERWTVFKVRMM	8.0	9.0	unscreened	-	2098_16:28493972-28493972 A>G_PESKPGSSSSLSPRERWTVFKVRMM
8:75937815-75937815 C>T	1.0	2098	MELANOMA	-	-	-	-	CRISPLD1	NM_001286777,p.P241S|uc003yan.3,p.P427S|ENST00000523524,p.P239S|NM_031461,p.P427S|uc011lfk.2,p.P239S|ENST00000517786,p.P241S|uc011lfl.2,p.P239S|NM_001286778,p.P239S|ENST00000262207,p.P427S	protein_coding, processed_transcript	uc011lfl.2	nonsynonymous SNV	exon11	c.C715T	p.P239S	RVYCPRNCMQANPHYARVIGTRVYS	RVYCPRNCMQANSHYARVIGTRVYS	7.0	2.0	unscreened	-	2098_8:75937815-75937815 C>T_RVYCPRNCMQANSHYARVIGTRVYS
X:11161997-11161997 G>A	0.0	2098	MELANOMA	-	-	-	-	ARHGAP6	uc004cur.1,p.P760L|uc010neb.1,p.P582L|ENST00000380718,p.P760L|ENST00000380717,p.P596L|NM_006125,p.P760L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010neb.1	nonsynonymous SNV	exon11	c.C1745T	p.P582L	WCGALRTFSSSLPYLMFL	WCGALRTFSSSLLYLMFL	7.0	8.0	unscreened	-	2098_X:11161997-11161997 G>A_WCGALRTFSSSLLYLMFL
18:61377522-61377522 C>T	0.0	2098	MELANOMA	-	-	-	-	SERPINB11	uc002ljk.4,p.S32L|uc010dqf.3,p.S32L|ENST00000538847,p.S32L	protein_coding, processed_transcript, polymorphic_pseudogene	uc010dqf.3	nonsynonymous SNV	exon1	c.C95T	p.S32L	NSNNIGDNIFFSSLSLLYALSMVLL	NSNNIGDNIFFSLLSLLYALSMVLL	1.0	8.0	unscreened	-	2098_18:61377522-61377522 C>T_NSNNIGDNIFFSLLSLLYALSMVLL
12:53670546-53670546 C>T	0.0	2098	MELANOMA	-	-	-	-	ESPL1	uc001scj.2,p.P290S|ENST00000257934,p.P615S|uc001sck.2,p.P615S|NM_012291,p.P615S|ENST00000552462,p.P615S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sck.2	nonsynonymous SNV	exon8	c.C1843T	p.P615S	RFNIICDLLELSPEETPAGAWARAT	RFNIICDLLELSSEETPAGAWARAT	6.0	3.0	unscreened	-	2098_12:53670546-53670546 C>T_RFNIICDLLELSSEETPAGAWARAT
9:127912080-127912080 G>A	1.0	2098	MELANOMA	-	-	ID=COSM221754,COSM1151204;OCCURENCE=1(lung),3(NS),11(skin)	1	PPP6C	ENST00000373546,p.R117C|uc011lzr.2,p.R117C|NM_001123369,p.R242C|ENST00000373547,p.R264C|uc010mwv.3,p.R301C|NM_002721,p.R264C|ENST00000415905,p.R242C|uc010mww.3,p.R242C|uc004bpg.4,p.R264C|NM_001123355,p.R301C|ENST00000451402,p.R301C	protein_coding	uc011lzr.2	nonsynonymous SNV	exon5	c.C349T	p.R117C	LVTVWSAPNYCYRCGNIASIMVFKD	LVTVWSAPNYCYCCGNIASIMVFKD	9.0	10.0	unscreened	-	2098_9:127912080-127912080 G>A_LVTVWSAPNYCYCCGNIASIMVFKD
15:59500938-59500938 C>T	1.0	2098	MELANOMA	-	-	-	-	MYO1E	ENST00000288235,p.S491N|NM_004998,p.S491N|uc002aga.4,p.S491N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002aga.4	nonsynonymous SNV	exon14	c.G1472A	p.S491N	QTLLQKLQMQIGSHEHFNSWNQGFI	QTLLQKLQMQIGNHEHFNSWNQGFI	10.0	5.0	unscreened	-	2098_15:59500938-59500938 C>T_QTLLQKLQMQIGNHEHFNSWNQGFI
7:17879608-17879608 G>A	0.0	2098	MELANOMA	-	-	-	-	SNX13	NM_015132,p.T394I|uc010kuc.3,p.T191I|ENST00000409389,p.T394I|uc003stv.3,p.T394I|ENST00000428135,p.T394I|uc003stw.1,p.T394I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kuc.3	nonsynonymous SNV	exon14	c.C572T	p.T191I	VALQFFMDYMQQTGGQAHLFFWMTV	VALQFFMDYMQQIGGQAHLFFWMTV	8.0	1.0	unscreened	-	2098_7:17879608-17879608 G>A_VALQFFMDYMQQIGGQAHLFFWMTV
5:140595574-140595574 G>A	0.0	2098	MELANOMA	-	-	-	-	PCDHB13	NM_018933,p.A627T|ENST00000341948,p.A627T|uc003lja.1,p.A627T	protein_coding	uc003lja.1	nonsynonymous SNV	exon1	c.G1879A	p.A627T	FGVWAHNGEVRTARLLSERDAAKHR	FGVWAHNGEVRTTRLLSERDAAKHR	5.0	2.0	unscreened	-	2098_5:140595574-140595574 G>A_FGVWAHNGEVRTTRLLSERDAAKHR
12:102869555-102869555 G>A	0.0	2098	MELANOMA	-	-	-	-	IGF1	uc001tjn.2,p.S13F|NM_001111284,p.S13F|ENST00000424202,p.S13F	protein_coding, processed_transcript	uc001tjn.2	nonsynonymous SNV	exon2	c.C38T	p.S13F	MITPTVKMHTMSSSHLFYLALCLLT	MITPTVKMHTMSFSHLFYLALCLLT	1.0	7.0	unscreened	-	2098_12:102869555-102869555 G>A_MITPTVKMHTMSFSHLFYLALCLLT
12:102869555-102869555 G>A	0.0	2098	MELANOMA	-	-	-	-	IGF1	NM_001111285,p.S29F|uc001tjp.4,p.S29F|NM_001111283,p.S29F|uc001tjo.2,p.S29F|uc001tjm.2,p.S29F|NM_000618,p.S29F|ENST00000392904,p.S29F|ENST00000337514,p.S29F|ENST00000307046,p.S29F|ENST00000456098,p.S29F	protein_coding, processed_transcript	uc001tjp.4	nonsynonymous SNV	exon2	c.C86T	p.S29F	CDFLKVKMHTMSSSHLFYLALCLLT	CDFLKVKMHTMSFSHLFYLALCLLT	1.0	7.0	unscreened	-	2098_12:102869555-102869555 G>A_CDFLKVKMHTMSFSHLFYLALCLLT
5:150413204-150413204 G>A	1.0	2098	MELANOMA	-	-	-	-	TNIP1	NM_001252391,p.P582S|ENST00000520931,p.P529S|NM_001252386,p.P529S|ENST00000315050,p.P582S|uc011dcn.2,p.P100S|ENST00000521591,p.P582S|uc003ltj.3,p.P582S|ENST00000518977,p.P582S|NM_006058,p.P582S|NM_001252390,p.P582S|uc031slv.1,p.P582S|ENST00000389378,p.P582S|uc003ltk.3,p.P582S|ENST00000523338,p.P582S|ENST00000522226,p.P582S|NM_001252393,p.P582S|uc010jhr.3,p.P582S|NM_001258454,p.P582S|NM_001252392,p.P582S|uc003ltg.4,p.P529S|uc021ygb.1,p.P582S|uc003lti.4,p.P582S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031slv.1	nonsynonymous SNV	exon16	c.C1744T	p.P582S	IRYPPPPMAMEHPPPLPNSRLFHLP	IRYPPPPMAMEHSPPLPNSRLFHLP	8.0	6.0	unscreened	-	2098_5:150413204-150413204 G>A_IRYPPPPMAMEHSPPLPNSRLFHLP
5:150413204-150413204 G>A	1.0	2098	MELANOMA	-	-	-	-	TNIP1	uc011dco.3,p.P582S|NM_001252385,p.P582S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dco.3	nonsynonymous SNV	exon16	c.C1744T	p.P582S	IRYPPPPMAMEHPPPLPNSRLFHLH	IRYPPPPMAMEHSPPLPNSRLFHLH	8.0	6.0	unscreened	-	2098_5:150413204-150413204 G>A_IRYPPPPMAMEHSPPLPNSRLFHLH
16:28493972-28493972 A>G	1.0	2098	MELANOMA	-	-	-	-	CLN3	ENST00000569030,p.L161P|ENST00000357076,p.L161P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000569030	nonsynonymous SNV	exon7	c.T482C	p.L161P	GTSLCGSSSSLSLRERWTVFKGLLW	GTSLCGSSSSLSPRERWTVFKGLLW	8.0	9.0	unscreened	-	2098_16:28493972-28493972 A>G_GTSLCGSSSSLSPRERWTVFKGLLW
16:28493972-28493972 A>G	1.0	2098	MELANOMA	-	-	-	-	CLN3	ENST00000535392,p.L193P|uc010vcu.2,p.L171P|ENST00000357806,p.L172P|uc002dpt.1,p.L171P|NM_001286110,p.L217P|ENST00000565778,p.L148P|uc021tfs.1,p.L118P|ENST00000333496,p.L247P|uc010vcw.1,p.L217P|ENST00000569430,p.L271P|ENST00000360019,p.L271P|uc002dpo.3,p.L271P|ENST00000357857,p.L217P|NM_001042432,p.L271P|ENST00000568558,p.L118P|uc010vcv.2,p.L247P|uc002dpm.3,p.L217P|uc002dps.1,p.L144P|uc002dpq.1,p.L223P|NM_000086,p.L271P|ENST00000567963,p.L271P|ENST00000568224,p.L193P|ENST00000395653,p.L171P|NM_001286109,p.L193P|ENST00000355477,p.L223P|uc002dpu.1,p.L169P|uc002dpx.1,p.L148P|uc002dpy.1,p.L115P|NM_001286104,p.L247P|uc002dpw.1,p.L118P|uc002dpl.3,p.L193P|uc002dpp.3,p.L271P|NM_001286105,p.L171P|ENST00000359984,p.L271P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tfs.1	nonsynonymous SNV	exon5	c.T353C	p.L118P	PESKPGSSSSLSLRERWTVFKGLLW	PESKPGSSSSLSPRERWTVFKGLLW	8.0	9.0	unscreened	-	2098_16:28493972-28493972 A>G_PESKPGSSSSLSPRERWTVFKGLLW
7:116340270-116340270 G>A	1.0	2098	MELANOMA	-	-	ID=COSM3411512;OCCURENCE=1(central_nervous_system)	1	MET	ENST00000318493,p.V378I|uc011knh.1,p.V378I|NM_000245,p.V378I|uc011kni.2,p.V378I|uc003vij.3,p.V378I|NM_001127500,p.V378I|uc011knf.2,p.V378I|uc011kng.1,p.V378I|ENST00000397752,p.V378I|uc011knc.1,p.V378I|uc010lkg.3,p.V378I|uc010lkh.3,p.V378I|ENST00000436117,p.V378I|uc022akk.1,p.V378I|uc011kna.1,p.V378I|uc011kmz.1,p.V378I|uc011kne.2,p.V378I|uc003vii.1,p.V397I|uc011knd.2,p.V378I|uc011knb.1,p.V378I	protein_coding, processed_transcript	uc022akk.1	nonsynonymous SNV	exon2	c.G1132A	p.V378I	PIKYVNDFFNKIVNKNNVRCLQHFY	PIKYVNDFFNKIINKNNVRCLQHFY	8.0	1.0	unscreened	-	2098_7:116340270-116340270 G>A_PIKYVNDFFNKIINKNNVRCLQHFY
13:32911608-32911608 C>T	0.0	2098	MELANOMA	-	-	-	1	BRCA2	ENST00000380152,p.P1039L|ENST00000544455,p.P1039L|uc001uub.1,p.P1039L|NM_000059,p.P1039L	retained_intron, protein_coding, nonsense_mediated_decay	uc001uub.1	nonsynonymous SNV	exon11	c.C3116T	p.P1039L	SKMFFKDIEEQYPTSLACVEIVNTL	SKMFFKDIEEQYLTSLACVEIVNTL	5.0	5.0	unscreened	-	2098_13:32911608-32911608 C>T_SKMFFKDIEEQYLTSLACVEIVNTL
17:61513406-61513406 G>A	0.0	2098	MELANOMA	-	-	-	-	CYB561	ENST00000578072,p.P104S|uc010ddt.3,p.P104S|ENST00000584031,p.P104S	retained_intron, protein_coding, processed_transcript	uc010ddt.3	nonsynonymous SNV	exon3	c.C310T	p.P104S	IFALVIALVGEFPGAAFPATCLPLQ	IFALVIALVGEFSGAAFPATCLPLQ	7.0	1.0	unscreened	-	2098_17:61513406-61513406 G>A_IFALVIALVGEFSGAAFPATCLPLQ
5:100222049-100222049 T>C	0.0	2098	MELANOMA	-	-	-	-	ST8SIA4	ENST00000231461,p.I167M|uc003knk.3,p.I167M|NM_005668,p.I167M	protein_coding, processed_transcript, nonsense_mediated_decay	uc003knk.3	nonsynonymous SNV	exon3	c.A501G	p.I167M	ECGKEIDSHNFVIRCNLAPVVEFAA	ECGKEIDSHNFVMRCNLAPVVEFAA	3.0	10.0	unscreened	-	2098_5:100222049-100222049 T>C_ECGKEIDSHNFVMRCNLAPVVEFAA
22:43529307-43529307 T>A	1.0	2098	MELANOMA	-	-	-	-	MCAT	NM_173467,p.R305S|uc003bdl.1,p.R305S|ENST00000290429,p.R305S	protein_coding, processed_transcript	uc003bdl.1	nonsynonymous SNV	exon4	c.A915T	p.R305S	PLVSVYSNVHAHRYRHPGHIHKLLA	PLVSVYSNVHAHSYRHPGHIHKLLA	8.0	4.0	unscreened	-	2098_22:43529307-43529307 T>A_PLVSVYSNVHAHSYRHPGHIHKLLA
19:16197308-16197308 G>C	1.0	2098	MELANOMA	-	-	-	1	TPM4	uc002ndj.2,p.E114D|ENST00000588410,p.E111D|uc002ndk.1,p.E24D|ENST00000586833,p.E113D|uc002ndi.2,p.E150D|ENST00000300933,p.E114D|NM_001145160,p.E150D|NM_003290,p.E114D|ENST00000588507,p.E24D|ENST00000344824,p.E150D|ENST00000592138,p.E24D|ENST00000538887,p.E150D|ENST00000586499,p.E134D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ndk.1	nonsynonymous SNV	exon3	c.G72C	p.E24D	EEKMEIQEMQLKEAKHIAEEADRKY	EEKMEIQEMQLKDAKHIAEEADRKY	10.0	1.0	unscreened	-	2098_19:16197308-16197308 G>C_EEKMEIQEMQLKDAKHIAEEADRKY
19:47570118-47570118 C>T	1.0	2098	MELANOMA	-	-	-	-	ZC3H4	uc002pgb.2,p.G132E|NM_015168,p.G1136E|uc002pga.4,p.G1136E|ENST00000253048,p.G1136E	retained_intron, protein_coding, processed_transcript	uc002pgb.2	nonsynonymous SNV	exon7	c.G395A	p.G132E	RVLAAGGLGQGGGGGQSSVLSGISL	RVLAAGGLGQGGEGGQSSVLSGISL	8.0	5.0	unscreened	-	2098_19:47570118-47570118 C>T_RVLAAGGLGQGGEGGQSSVLSGISL
X:110963330-110963330 G>A	0.0	2098	MELANOMA	-	-	-	-	ALG13	ENST00000436609,p.E111K|uc011msy.2,p.E420K|NM_001257234,p.E316K|uc011msx.2,p.E316K|NM_001257237,p.E316K|NM_001257230,p.E316K|ENST00000495283,p.E316K|ENST00000251943,p.E316K|uc011msz.2,p.E342K|uc011mtb.2,p.E316K|NM_001099922,p.E420K|ENST00000394780,p.E420K|NM_001257231,p.E342K|uc011mta.2,p.E316K	protein_coding, processed_transcript	uc011mtb.2	nonsynonymous SNV	exon11	c.G946A	p.E316K	TDYKSSNQNRMEEWGACYNAENIPE	TDYKSSNQNRMEKWGACYNAENIPE	8.0	8.0	unscreened	-	2098_X:110963330-110963330 G>A_TDYKSSNQNRMEKWGACYNAENIPE
9:131395223-131395223 G>A	1.0	2098	MELANOMA	-	-	-	-	SPTAN1	uc004bvo.4,p.E195K|uc004bvm.4,p.E2433K|uc004bvn.4,p.E2408K|NM_001195532,p.E2408K|NM_003127,p.E2428K|ENST00000372739,p.E2433K|ENST00000372731,p.E2428K|uc004bvl.4,p.E2428K|ENST00000358161,p.E2433K|NM_001130438,p.E2433K	protein_coding, processed_transcript	uc004bvo.4	nonsynonymous SNV	exon5	c.G583A	p.E195K	LSSEGKPYVTKEELYQNLTREQADY	LSSEGKPYVTKEKLYQNLTREQADY	10.0	10.0	unscreened	-	2098_9:131395223-131395223 G>A_LSSEGKPYVTKEKLYQNLTREQADY
16:85706050-85706050 G>A	1.0	2098	MELANOMA	-	-	-	-	GSE1	ENST00000253458,p.E1187K|uc002fiw.3,p.E1083K|uc002fiy.4,p.E1114K|uc002fiz.3,p.E329K|ENST00000393243,p.E1114K|NM_014615,p.E1187K|NM_001134473,p.E1083K|ENST00000405402,p.E1083K|uc002fix.4,p.E1187K|NM_001278184,p.E1114K	retained_intron, protein_coding, processed_transcript	uc002fiz.3	nonsynonymous SNV	exon5	c.G985A	p.E329K	LRSQKQKMVSERERLQAELDHLRKC	LRSQKQKMVSERKRLQAELDHLRKC	8.0	2.0	unscreened	-	2098_16:85706050-85706050 G>A_LRSQKQKMVSERKRLQAELDHLRKC
16:87369777-87369777 A>G	1.0	2098	MELANOMA	-	-	-	-	FBXO31	uc010vot.2,p.Y104H|NM_001282683,p.Y104H|ENST00000563113,p.Y104H|NM_024735,p.Y276H|ENST00000311635,p.Y276H|uc002fjw.3,p.Y276H|uc002fjv.3,p.Y168H	protein_coding, processed_transcript, nonsense_mediated_decay	uc010vot.2	nonsynonymous SNV	exon7	c.T310C	p.Y104H	EHMQELILMKFIYTSQYDNCLTYRR	EHMQELILMKFIHTSQYDNCLTYRR	7.0	5.0	unscreened	-	2098_16:87369777-87369777 A>G_EHMQELILMKFIHTSQYDNCLTYRR
7:74015458-74015458 C>T	1.0	2098	MELANOMA	-	-	-	-	GTF2IRD1	ENST00000265755,p.S921L|uc010lbq.3,p.S938L|NM_005685,p.S906L|ENST00000455841,p.S938L|uc003uaq.3,p.S921L|ENST00000476977,p.S906L|ENST00000424337,p.S906L|uc003uar.1,p.S906L|NM_001199207,p.S938L|uc003uap.3,p.S906L|NM_016328,p.S921L	retained_intron, protein_coding, processed_transcript	uc010lbq.3	nonsynonymous SNV	exon26	c.C2813T	p.S938L	NSVSSSSSSSSSSSSNPDSVASANQ	NSVSSSSSSSSSLSSNPDSVASANQ	6.0	4.0	unscreened	-	2098_7:74015458-74015458 C>T_NSVSSSSSSSSSLSSNPDSVASANQ
12:4919421-4919421 C>T	0.0	2098	MELANOMA	-	-	-	-	KCNA6	NM_002235,p.R72W|ENST00000433855,p.R72W|uc021qtr.1,p.R72W|uc001qng.3,p.R72W|ENST00000280684,p.R72W	protein_coding	uc021qtr.1	nonsynonymous SNV	exon1	c.C214T	p.R72W	SLFPDTLLGDPGRRVRFFDPLRNEY	SLFPDTLLGDPGWRVRFFDPLRNEY	1.0	10.0	unscreened	-	2098_12:4919421-4919421 C>T_SLFPDTLLGDPGWRVRFFDPLRNEY
3:170784404-170784404 C>T	1.0	2098	MELANOMA	-	-	-	-	TNIK	NM_001161566,p.D1182N|uc003fhi.2,p.D1219N|ENST00000460047,p.D1211N|uc003fhn.2,p.D1237N|ENST00000284483,p.D1266N|ENST00000369326,p.D1252N|NM_001161561,p.D1245N|NM_001161565,p.D1190N|uc003fhg.2,p.D452N|NM_001161560,p.D1266N|uc003fho.2,p.D1182N|NM_001161563,p.D1219N|NM_015028,p.D1274N|ENST00000341852,p.D1190N|uc003fhp.3,p.D206N|ENST00000436636,p.D1274N|ENST00000475336,p.D1182N|ENST00000488470,p.D1219N|ENST00000357327,p.D1245N|ENST00000470834,p.D1237N|ENST00000538048,p.D1226N|uc003fhh.2,p.D1274N|uc003fhl.2,p.D1190N|NM_001161562,p.D1237N|uc003fhk.2,p.D1266N|NM_001161564,p.D1211N|uc003fhm.2,p.D1211N|uc003fhj.2,p.D1245N	retained_intron, protein_coding, processed_transcript	uc003fhp.3	nonsynonymous SNV	exon5	c.G616A	p.D206N	GVYVNTYGRITKDVVLQWGEMPTSV	GVYVNTYGRITKNVVLQWGEMPTSV	9.0	1.0	unscreened	-	2098_3:170784404-170784404 C>T_GVYVNTYGRITKNVVLQWGEMPTSV
11:71946411-71946411 C>T	1.0	2098	MELANOMA	-	-	-	-	INPPL1	NM_001567,p.R859C|uc001osg.3,p.R617C|uc001osf.3,p.R859C|ENST00000541756,p.R617C|ENST00000298229,p.R859C|ENST00000538751,p.R617C	retained_intron, protein_coding, nonsense_mediated_decay	uc001osg.3	nonsynonymous SNV	exon22	c.C1849T	p.R617C	STAQQFLTFLSHRGEETGNIRGSMK	STAQQFLTFLSHCGEETGNIRGSMK	10.0	6.0	unscreened	-	2098_11:71946411-71946411 C>T_STAQQFLTFLSHCGEETGNIRGSMK
7:19184929-19184929 G>T	0.0	2098	MELANOMA	-	-	-	-	FERD3L	NM_152898,p.D19E|uc003suo.1,p.D19E|ENST00000275461,p.D19E	protein_coding	uc003suo.1	nonsynonymous SNV	exon1	c.C57A	p.D19E	SCVDTTVLDFVADLSLASPRRPLLC	SCVDTTVLDFVAELSLASPRRPLLC	1.0	2.0	unscreened	-	2098_7:19184929-19184929 G>T_SCVDTTVLDFVAELSLASPRRPLLC
20:31760872-31760872 G>A	0.0	2098	MELANOMA	-	-	-	-	BPIFA2	ENST00000253362,p.D98N|ENST00000354932,p.D98N|NM_080574,p.D98N|uc002wyo.1,p.D98N	protein_coding	uc002wyo.1	nonsynonymous SNV	exon3	c.G292A	p.D98N	NNVISKLLPTNTDIFGLKISNSLIL	NNVISKLLPTNTNIFGLKISNSLIL	1.0	7.0	unscreened	-	2098_20:31760872-31760872 G>A_NNVISKLLPTNTNIFGLKISNSLIL
5:16091122-16091122 G>C	0.0	2098	MELANOMA	-	-	-	-	MARCH11	ENST00000332432,p.F254L|uc003jfo.2,p.F254L|NM_001102562,p.F254L	protein_coding, processed_transcript	uc003jfo.2	nonsynonymous SNV	exon3	c.C762G	p.F254L	KVQMIAVILGSLFLIASVTWLLWSA	KVQMIAVILGSLLLIASVTWLLWSA	1.0	2.0	unscreened	-	2098_5:16091122-16091122 G>C_KVQMIAVILGSLLLIASVTWLLWSA
1:154932193-154932193 G>A	1.0	2098	MELANOMA	-	-	-	-	PYGO2	ENST00000368456,p.L58F|ENST00000368457,p.L95F|NM_138300,p.L95F|uc001fft.3,p.L95F	protein_coding, processed_transcript	uc001fft.3	nonsynonymous SNV	exon3	c.C283T	p.L95F	GAPKVGVAAPPFLGSPVPFGGFRVQ	GAPKVGVAAPPFFGSPVPFGGFRVQ	9.0	6.0	unscreened	-	2098_1:154932193-154932193 G>A_GAPKVGVAAPPFFGSPVPFGGFRVQ
3:125701175-125701175 G>T	1.0	2098	MELANOMA	-	-	-	-	ROPN1B	ENST00000514116,p.L153F|uc003eih.3,p.L153F|ENST00000251776,p.L153F|uc010hsc.3,p.L61F|NM_001012337,p.L153F|uc010hsb.3,p.L153F|ENST00000505382,p.L61F|ENST00000511082,p.L61F	retained_intron, protein_coding, processed_transcript	uc010hsc.3	nonsynonymous SNV	exon3	c.G183T	p.L61F	VCEVLSCDHNGGLPRIPFSTFQFLY	VCEVLSCDHNGGFPRIPFSTFQFLY	8.0	6.0	unscreened	-	2098_3:125701175-125701175 G>T_VCEVLSCDHNGGFPRIPFSTFQFLY
1:11710779-11710779 ->GCG	0.0	2098	MELANOMA	-	-	ID=COSM1180447;OCCURENCE=1(prostate)	-	FBXO2	ENST00000354287,p.A45delinsAA|uc001asj.3,p.A45delinsAA|uc009vna.3,p.A45delinsAA|NM_012168,p.A45delinsAA	protein_coding, processed_transcript	uc009vna.3	nonframeshift insertion	exon2	c.134_135insCGC	p.A45delinsAA	EDQQEEEAAAAAAYLDELPEPLLLR	EDQQEEEAAAAAAAYLDELPEPLLL	3.0	2.0	unscreened	-	2098_1:11710779-11710779 ->GCG_EDQQEEEAAAAAAAYLDELPEPLLL
3:15499756-15499756 C>T	0.0	2098	MELANOMA	-	-	-	-	COLQ	uc003bzx.3,p.M297I|ENST00000435459,p.M287I|uc010heo.3,p.M263I|ENST00000383786,p.M263I|ENST00000383781,p.M287I|ENST00000383788,p.M297I|uc003cae.1,p.M156I|NM_080539,p.M263I|NM_005677,p.M297I|ENST00000383787,p.M288I|uc003bzv.3,p.M287I|ENST00000603808,p.M297I|NM_080538,p.M287I	protein_coding, processed_transcript	uc010heo.3	nonsynonymous SNV	exon12	c.G789A	p.M263I	PGPPGRCLCGPTMNVNNPSYGESVY	PGPPGRCLCGPTINVNNPSYGESVY	4.0	8.0	unscreened	-	2098_3:15499756-15499756 C>T_PGPPGRCLCGPTINVNNPSYGESVY
X:54581035-54581035 C>G	0.0	2098	MELANOMA	-	-	-	-	GNL3L	uc004dth.2,p.D452E|uc022bxi.1,p.D452E|NM_001184819,p.D452E|NM_019067,p.D452E|ENST00000336470,p.D452E|ENST00000360845,p.D452E	protein_coding, processed_transcript	uc022bxi.1	nonsynonymous SNV	exon14	c.C1356G	p.D452E	CLATGESDELLGDTDPLEMEIKLLH	CLATGESDELLGETDPLEMEIKLLH	7.0	4.0	unscreened	-	2098_X:54581035-54581035 C>G_CLATGESDELLGETDPLEMEIKLLH
19:407847-407847 ->A	0.0	2098	MELANOMA	-	-	-	-	C2CD4C	uc002loo.3,p.A172fs|uc021ulv.1,p.A172fs|NM_001136263,p.A172fs|ENST00000332235,p.A172fs	protein_coding	uc021ulv.1	frameshift insertion	exon1	c.514_515insT	p.A172fs	RRKESLFHSEHGALAQVGSPGAGRR	RRKESLFHSEHGVSGPGGLPRGRAPPGSCQGQRG	2.0	1.0	unscreened	-	2098_19:407847-407847 ->A_RRKESLFHSEHGVSGPGGLPRGRAPPGSCQGQRG
11:100226899-100226899 C>T	0.0	2098	MELANOMA	-	-	-	-	CNTN5	NM_001243270,p.S1084L|ENST00000279463,p.S1084L|ENST00000528682,p.S1084L|uc001pga.3,p.S1084L|NM_014361,p.S1084L|ENST00000418526,p.S1010L|uc021qpc.1,p.S1010L|NM_175566,p.S1010L|uc010ruk.2,p.S355L|ENST00000524871,p.S1084L|uc021qpb.1,p.S1084L	retained_intron, protein_coding, processed_transcript	uc021qpc.1	nonsynonymous SNV	exon22	c.C3029T	p.S1010L	SAQSTLHSLSTSSSSVTLLLALMIP	SAQSTLHSLSTSLSSVTLLLALMIP	1.0	9.0	unscreened	-	2098_11:100226899-100226899 C>T_SAQSTLHSLSTSLSSVTLLLALMIP
8:146157650-146157650 G>A	1.0	2098	MELANOMA	-	-	-	-	ZNF16	NM_001029976,p.P175S|ENST00000276816,p.P175S|ENST00000394909,p.P175S|ENST00000532351,p.P175S|uc003zeu.3,p.P175S|NM_006958,p.P175S|uc003zet.3,p.P175S	retained_intron, protein_coding	uc003zeu.3	nonsynonymous SNV	exon3	c.C523T	p.P175S	SLSPNLMACQEIPTEERPHPYDMGG	SLSPNLMACQEISTEERPHPYDMGG	5.0	6.0	unscreened	-	2098_8:146157650-146157650 G>A_SLSPNLMACQEISTEERPHPYDMGG
3:195514750-195514750 G>A	0.0	2098	MELANOMA	-	-	-	2	MUC4	ENST00000478156,p.P1234L|ENST00000480843,p.P1234L|ENST00000463781,p.P1234L|uc021xjp.1,p.P1234L|ENST00000477756,p.P1234L|ENST00000477086,p.P1234L|ENST00000466475,p.P1234L|ENST00000479406,p.P1234L|ENST00000462323,p.P1234L|ENST00000470451,p.P1234L|ENST00000475231,p.P1234L|NM_018406,p.P1234L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C3701T	p.P1234L	ASSVSTDHATSLPVTIPSAASTGHT	ASSVSTDHATSLLVTIPSAASTGHT	1.0	8.0	unscreened	-	2098_3:195514750-195514750 G>A_ASSVSTDHATSLLVTIPSAASTGHT
21:45821725-45821725 G>A	0.0	2098	MELANOMA	-	-	-	-	TRPM2	uc002zeu.1,p.C828Y|ENST00000397932,p.C828Y|ENST00000300482,p.C828Y|uc002zey.1,p.C341Y|uc002zet.1,p.C828Y|NM_003307,p.C828Y|uc010gpt.1,p.C828Y|uc002zex.1,p.C614Y|ENST00000300481,p.C808Y|ENST00000397928,p.C828Y|uc002zew.1,p.C828Y	protein_coding, processed_transcript	uc010gpt.1	nonsynonymous SNV	exon16	c.G2483A	p.C828Y	VLMVDFQPVPSWCECAIYLWLFSLV	VLMVDFQPVPSWYECAIYLWLFSLV	2.0	3.0	unscreened	-	2098_21:45821725-45821725 G>A_VLMVDFQPVPSWYECAIYLWLFSLV
11:4790787-4790787 C>T	0.0	2098	MELANOMA	-	-	-	-	OR51F1	uc010qyl.2,p.A121T|ENST00000380383,p.A128T|NM_001004752,p.A121T|ENST00000343430,p.A121T	protein_coding	uc010qyl.2	nonsynonymous SNV	exon1	c.G361A	p.A121T	FTFMESGVLVATAFDRYVAICDPLR	FTFMESGVLVATTFDRYVAICDPLR	1.0	9.0	unscreened	-	2098_11:4790787-4790787 C>T_FTFMESGVLVATTFDRYVAICDPLR
7:143048721-143048721 G>A	0.0	2098	MELANOMA	-	-	-	-	CLCN1	uc011ktc.1,p.G489E|NM_000083,p.G877E|ENST00000343257,p.G877E|uc003wcr.1,p.G877E	protein_coding, processed_transcript, nonsense_mediated_decay	uc011ktc.1	nonsynonymous SNV	exon22	c.G1466A	p.G489E	ELQKAIEGHTKSGVQLRPPLASFRN	ELQKAIEGHTKSEVQLRPPLASFRN	1.0	9.0	unscreened	-	2098_7:143048721-143048721 G>A_ELQKAIEGHTKSEVQLRPPLASFRN
5:38493825-38493825 C>T	0.0	2098	MELANOMA	0.0005	-	ID=COSM1581146,COSM1581147;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	1	LIFR	NM_002310,p.D650N|ENST00000453190,p.D650N|uc010ive.1,p.D650N|NM_001127671,p.D650N|uc003jli.2,p.D650N|ENST00000263409,p.D650N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ive.1	nonsynonymous SNV	exon14	c.G1948A	p.D650N	GMGKGILLTWHYDPNMTCDYVIKWC	GMGKGILLTWHYNPNMTCDYVIKWC	6.0	3.0	unscreened	-	2098_5:38493825-38493825 C>T_GMGKGILLTWHYNPNMTCDYVIKWC
20:37657123-37657123 C>T	1.0	2098	MELANOMA	-	-	-	-	DHX35	ENST00000373325,p.H622Y	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000373325	nonsynonymous SNV	exon19	c.C1864T	p.H622Y	IVSGFFANAARFHSTGAYRVIYNEV	IVSGFFANAARFYSTGAYRVIYNEV	7.0	9.0	unscreened	-	2098_20:37657123-37657123 C>T_IVSGFFANAARFYSTGAYRVIYNEV
16:16363998-16363998 C>T	1.0	2098	MELANOMA	-	-	-	-	NOMO3	uc002deq.3,p.R639C|uc002dep.3,p.R639C|ENST00000538468,p.R472C|ENST00000399336,p.R639C|NM_001004067,p.R639C|uc010bvp.2,p.R472C|ENST00000263012,p.R639C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bvp.2	nonsynonymous SNV	exon16	c.C1414T	p.R472C	CLSKPGVYKVTPRSCHRFEQAFYTY	CLSKPGVYKVTPCSCHRFEQAFYTY	10.0	9.0	unscreened	-	2098_16:16363998-16363998 C>T_CLSKPGVYKVTPCSCHRFEQAFYTY
12:121687616-121687616 A>C	0.0	2098	MELANOMA	-	-	-	-	CAMKK2	uc001tzy.3,p.S433A|ENST00000446440,p.S433A|NM_153500,p.S433A|ENST00000347034,p.S433A|uc001tzw.3,p.S433A|NM_172216,p.S433A|ENST00000538733,p.S433A|uc001uac.3,p.S433A|NM_172215,p.S433A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uac.3	nonsynonymous SNV	exon13	c.T1297G	p.S433A	DLITRMLDKNPESRIVVPEIKILVK	DLITRMLDKNPEARIVVPEIKILVK	7.0	7.0	unscreened	-	2098_12:121687616-121687616 A>C_DLITRMLDKNPEARIVVPEIKILVK
12:100042281-100042281 C>T	0.0	2098	MELANOMA	0.0014	-	-	-	FAM71C	uc001tgn.3,p.P110L|NM_153364,p.P110L|ENST00000324341,p.P110L	protein_coding	uc001tgn.3	nonsynonymous SNV	exon1	c.C329T	p.P110L	ARCGPATQKRESPPAEILELTRLLP	ARCGPATQKRESLPAEILELTRLLP	1.0	6.0	unscreened	-	2098_12:100042281-100042281 C>T_ARCGPATQKRESLPAEILELTRLLP
12:121687616-121687616 A>C	0.0	2098	MELANOMA	-	-	-	-	CAMKK2	uc001tzu.3,p.S433A|NM_172226,p.S433A|uc001tzt.3,p.S433A|NM_172214,p.S433A|uc001uab.3,p.S433A|uc001uaa.2,p.S433A|uc001tzx.3,p.S433A|ENST00000412367,p.S433A|ENST00000392473,p.S433A|NM_001270486,p.S433A|NM_001270485,p.S433A|uc001tzv.3,p.S433A|NM_153499,p.S433A|ENST00000545538,p.S220A|NM_006549,p.S433A|ENST00000402834,p.S433A|uc001tzz.2,p.S220A|ENST00000392474,p.S433A|ENST00000404169,p.S433A|ENST00000337174,p.S433A|ENST00000324774,p.S433A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uab.3	nonsynonymous SNV	exon13	c.T1297G	p.S433A	DLITRMLDKNPESRIVVPEIKLHPW	DLITRMLDKNPEARIVVPEIKLHPW	7.0	7.0	unscreened	-	2098_12:121687616-121687616 A>C_DLITRMLDKNPEARIVVPEIKLHPW
1:55145703-55145703 C>T	0.0	2098	MELANOMA	-	-	-	-	MROH7	uc010oog.1,p.P789L|ENST00000545244,p.P357L|NM_001039464,p.P789L|ENST00000454855,p.P307L|ENST00000414150,p.P789L|ENST00000409996,p.P357L|ENST00000339553,p.P789L|ENST00000421030,p.P789L|uc010ooc.1,p.P357L|uc010ood.1,p.P307L|uc010ooe.1,p.P789L|NM_001291332,p.P307L|ENST00000395690,p.P789L	 nonsense_mediated_decay, processed_transcript,retained_intron, protein_coding	uc010oog.1	nonsynonymous SNV	exon11	c.C2366T	p.P789L	FMTEVVVALLMCPLPLNSNGAEMWR	FMTEVVVALLMCLLPLNSNGAEMWR	1.0	10.0	unscreened	-	2098_1:55145703-55145703 C>T_FMTEVVVALLMCLLPLNSNGAEMWR
X:71812988-71812988 C>T	0.0	2098	MELANOMA	-	-	-	-	PHKA1	ENST00000339490,p.G1057E|uc010nll.3,p.G102E|ENST00000373539,p.G1087E|NM_001122670,p.G1057E|NM_001172436,p.G998E|ENST00000373542,p.G1070E|uc004eay.4,p.G1057E|ENST00000541944,p.G998E|uc004eax.4,p.G1070E|uc011mqi.2,p.G998E|NM_002637,p.G1070E|ENST00000373545,p.G1028E	protein_coding	uc011mqi.2	nonsynonymous SNV	exon27	c.G2993A	p.G998E	RRLDGALNRVPVGFYQKVWKVLQKC	RRLDGALNRVPVEFYQKVWKVLQKC	6.0	6.0	unscreened	-	2098_X:71812988-71812988 C>T_RRLDGALNRVPVEFYQKVWKVLQKC
1:11204749-11204749 C>T	1.0	2098	MELANOMA	-	-	-	1	MTOR	NM_004958,p.E1610K|ENST00000361445,p.E1610K|uc001asd.3,p.E1610K	protein_coding, processed_transcript	uc001asd.3	nonsynonymous SNV	exon34	c.G4828A	p.E1610K	ELEEVIQYKLVPERREIIRQIWWER	ELEEVIQYKLVPKRREIIRQIWWER	7.0	4.0	unscreened	-	2098_1:11204749-11204749 C>T_ELEEVIQYKLVPKRREIIRQIWWER
3:122631851-122631851 C>-	0.0	2098	MELANOMA	-	-	-	-	SEMA5B	NM_001031702,p.G855fs|uc003egb.2,p.G855fs|NM_001256346,p.G855fs|NM_001256347,p.G909fs|uc031sbm.1,p.G909fs|ENST00000451055,p.G909fs|ENST00000357599,p.G855fs|uc003efz.2,p.G855fs|ENST00000393583,p.G855fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc031sbm.1	frameshift deletion	exon18	c.2726delG	p.G909fs	RSGSTSPHTVSGGWAAWGPWSSCSR	RSGSTSPHTVSGAGPPGARGRPAPGTASWASASARERALTRSPATGACPAWAMLPSTRTATPRLAQFGVLGPAGPHGLHAQLPVVGVTINAPVPAPAPHPPQVRTSVSGCTRRRHYVPHRPAQKAGRPGLSGVSALTTEPRAEAGTVRSSSQGPAPVLETAARAAPAPTARFPSSCQPPAWRRPPTVQGSISSTWWPRASPASWALGS	2.0	2.0	unscreened	-	2098_3:122631851-122631851 C>-_RSGSTSPHTVSGAGPPGARGRPAPGTASWASASARERALTRSPATGACPAWAMLPSTRTATPRLAQFGVLGPAGPHGLHAQLPVVGVTINAPVPAPAPHPPQVRTSVSGCTRRRHYVPHRPAQKAGRPGLSGVSALTTEPRAEAGTVRSSSQGPAPVLETAARAAPAPTARFPSSCQPPAWRRPPTVQGSISSTWWPRASPASWALGS
17:10356612-10356612 C>T	0.0	2098	MELANOMA	-	-	-	-	MYH4	uc002gmn.3,p.D990N|ENST00000255381,p.D990N|NM_017533,p.D990N	protein_coding	uc002gmn.3	nonsynonymous SNV	exon24	c.G2968A	p.D990N	KVKNLTEEMAGLDETIAKLTKEKKA	KVKNLTEEMAGLNETIAKLTKEKKA	1.0	10.0	unscreened	-	2098_17:10356612-10356612 C>T_KVKNLTEEMAGLNETIAKLTKEKKA
2:165954004-165954004 G>A	0.0	2098	MELANOMA	-	-	-	-	SCN3A	uc002ucz.3,p.P1284S|NM_001081677,p.P1284S|ENST00000360093,p.P1333S|uc002udb.1,p.P1153S|uc002ucx.3,p.P1333S|NM_001081676,p.P1284S|ENST00000283254,p.P1333S|ENST00000409101,p.P1284S|ENST00000440431,p.P1284S|NM_006922,p.P1333S|uc002ucy.3,p.P1284S|uc002uda.1,p.P1153S	retained_intron, protein_coding, processed_transcript	uc002udb.1	nonsynonymous SNV	exon19	c.C3457T	p.P1153S	MRVVVNALVGAIPSIMNVLLVCLIF	MRVVVNALVGAISSIMNVLLVCLIF	4.0	8.0	unscreened	-	2098_2:165954004-165954004 G>A_MRVVVNALVGAISSIMNVLLVCLIF
17:31322718-31322718 G>A	0.0	2098	MELANOMA	-	-	-	-	SPACA3	ENST00000580599,p.G40E|ENST00000269053,p.G109E|uc002hhs.1,p.G109E|NM_173847,p.G109E	protein_coding, processed_transcript	uc002hhs.1	nonsynonymous SNV	exon2	c.G326A	p.G109E	RVLHDFGLDGYRGYSLADWVCLAYF	RVLHDFGLDGYREYSLADWVCLAYF	1.0	10.0	unscreened	-	2098_17:31322718-31322718 G>A_RVLHDFGLDGYREYSLADWVCLAYF
17:2270598-2270603 GCGCGG>-	1.0	2098	MELANOMA	-	-	-	-	SGSM2	NM_014853,p.441_443del|ENST00000268989,p.441_443del|uc002fum.4,p.441_443del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002fum.4	nonframeshift deletion	exon12	c.1322_1327del	p.441_443del	HITINYHHLAASRAASVDDDEEEED	HITINYHHLAASPSVDDDEEEEDKL	9.0	1.0	unscreened	-	2098_17:2270598-2270603 GCGCGG>-_HITINYHHLAASPSVDDDEEEEDKL
12:49434382-49434382 G>A	1.0	2098	MELANOMA	-	-	-	1	KMT2D	ENST00000301067,p.P2391S|uc001rta.4,p.P2391S|NM_003482,p.P2391S	retained_intron, protein_coding, processed_transcript	uc001rta.4	nonsynonymous SNV	exon31	c.C7171T	p.P2391S	AQPPLTPRPQPPPPESCCALPPRSL	AQPPLTPRPQPPSPESCCALPPRSL	9.0	7.0	unscreened	-	2098_12:49434382-49434382 G>A_AQPPLTPRPQPPSPESCCALPPRSL
11:101375429-101375429 G>A	0.0	2098	MELANOMA	-	-	-	-	TRPC6	NM_004621,p.R91C|ENST00000532133,p.R91C|uc009ywy.3,p.R91C|ENST00000344327,p.R91C|uc009ywz.1,p.R91C|ENST00000348423,p.R91C|uc001pgk.4,p.R91C|ENST00000360497,p.R91C	retained_intron, protein_coding, processed_transcript	uc009ywz.1	nonsynonymous SNV	exon2	c.C271T	p.R91C	LANRGPAYMFSDRSTSLSIEEERFL	LANRGPAYMFSDCSTSLSIEEERFL	3.0	9.0	unscreened	-	2098_11:101375429-101375429 G>A_LANRGPAYMFSDCSTSLSIEEERFL
6:150267625-150267625 G>A	1.0	2098	MELANOMA	-	-	-	-	ULBP2	ENST00000367351,p.R156K|uc003qno.3,p.R156K|NM_025217,p.R156K|uc010kij.3,p.R156K	protein_coding	uc010kij.3	nonsynonymous SNV	exon3	c.G467A	p.R156K	DGQIFLLFDSEKRMWTTVHPGARKM	DGQIFLLFDSEKKMWTTVHPGARKM	5.0	8.0	unscreened	-	2098_6:150267625-150267625 G>A_DGQIFLLFDSEKKMWTTVHPGARKM
20:37657123-37657123 C>T	1.0	2098	MELANOMA	-	-	-	-	DHX35	uc010zwa.2,p.H467Y|uc002xjh.3,p.H622Y|ENST00000252011,p.H622Y|ENST00000449559,p.H86Y|NM_001190809,p.H591Y|NM_021931,p.H622Y|uc010zwb.2,p.H467Y|uc010zwc.2,p.H591Y|ENST00000373323,p.H591Y	retained_intron, protein_coding, nonsense_mediated_decay	uc010zwc.2	nonsynonymous SNV	exon18	c.C1771T	p.H591Y	IVSGFFANAARFHSTGAYRTIRDDH	IVSGFFANAARFYSTGAYRTIRDDH	7.0	9.0	unscreened	-	2098_20:37657123-37657123 C>T_IVSGFFANAARFYSTGAYRTIRDDH
3:122631851-122631851 C>-	0.0	2098	MELANOMA	-	-	-	-	SEMA5B	ENST00000475244,p.G855fs	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000475244	frameshift deletion	exon18	c.2564delG	p.G855fs	RSGSTSPHTVSGGWAAWGPWSSCSR	RSGSTSPHTVSGAGPPGARGRPAPGTASWASASARERALTRSPATGACPAWAMLPSTRTATPRLAQFGVLGPAGPHGLHAQLPVVGVTINAPVPAPAPHPPQVRTSVSGCTRRRHYVPHRPAQKAGRPGLSGVSALTTEPRAEAGTVRSSSQGPAPVLETAARAAPAPTARFPSSCQPPAWRRPPTVQVKETGPTSCCGPPSPPAPHSKVWTLSTSCSRQPSFVGVPTALRWVQSHPLGGHGHLLLLGLWAP	2.0	2.0	unscreened	-	2098_3:122631851-122631851 C>-_RSGSTSPHTVSGAGPPGARGRPAPGTASWASASARERALTRSPATGACPAWAMLPSTRTATPRLAQFGVLGPAGPHGLHAQLPVVGVTINAPVPAPAPHPPQVRTSVSGCTRRRHYVPHRPAQKAGRPGLSGVSALTTEPRAEAGTVRSSSQGPAPVLETAARAAPAPTARFPSSCQPPAWRRPPTVQVKETGPTSCCGPPSPPAPHSKVWTLSTSCSRQPSFVGVPTALRWVQSHPLGGHGHLLLLGLWAP
3:122631851-122631851 C>-	0.0	2098	MELANOMA	-	-	-	-	SEMA5B	ENST00000195173,p.G854fs	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000195173	frameshift deletion	exon18	c.2561delG	p.G854fs	RSGSTSPHTVSGGWAAWGPWSSCSR	RSGSTSPHTVSGAGPPGARGRPAPGTASWASASARERALTRSPATGACPAWAMLPSTRTATPRLAQFGVLGPAGPHGLHAQLPVVGVTINAPVPAPAPHPPQVRTSVSGCTRRRHYVPHRPAQAGRPGLSGVSALTTEPRAEAGTVRSSSQGPAPVLETAARAAPAPTARFPSSCQPPAWRRPPTVQVKETGPTSCCGPPSPPAPHSKVWTLSTSCSRQPSFVGVPTALRWVQSHPLGGHGHLLLLGLWAP	2.0	2.0	unscreened	-	2098_3:122631851-122631851 C>-_RSGSTSPHTVSGAGPPGARGRPAPGTASWASASARERALTRSPATGACPAWAMLPSTRTATPRLAQFGVLGPAGPHGLHAQLPVVGVTINAPVPAPAPHPPQVRTSVSGCTRRRHYVPHRPAQAGRPGLSGVSALTTEPRAEAGTVRSSSQGPAPVLETAARAAPAPTARFPSSCQPPAWRRPPTVQVKETGPTSCCGPPSPPAPHSKVWTLSTSCSRQPSFVGVPTALRWVQSHPLGGHGHLLLLGLWAP
5:5457481-5457481 C>T	1.0	2098	MELANOMA	-	-	-	-	ICE1	uc003jdm.5,p.P243L|NM_015325,p.P243L|ENST00000296564,p.P243L	retained_intron, protein_coding, processed_transcript	uc003jdm.5	nonsynonymous SNV	exon12	c.C728T	p.P243L	EKPAKAITSSRVPGEDGTLPPTQGS	EKPAKAITSSRVLGEDGTLPPTQGS	8.0	10.0	unscreened	-	2098_5:5457481-5457481 C>T_EKPAKAITSSRVLGEDGTLPPTQGS
2:75879660-75879660 C>T	1.0	2098	MELANOMA	-	-	-	-	MRPL19	ENST00000358788,p.R118C|NM_014763,p.R118C|uc002snl.3,p.R118C|ENST00000476622,p.R20C|ENST00000409374,p.R118C|ENST00000393909,p.R118C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002snl.3	nonsynonymous SNV	exon4	c.C352T	p.R118C	LHIPEFYVGSILRVTTADPYASGKI	LHIPEFYVGSILCVTTADPYASGKI	9.0	4.0	unscreened	-	2098_2:75879660-75879660 C>T_LHIPEFYVGSILCVTTADPYASGKI
5:138643211-138643211 T>C	0.0	2098	MELANOMA	-	-	-	-	MATR3	NM_001194954,p.L36S|ENST00000514694,p.L36S|uc003ldu.3,p.L36S|ENST00000502394,p.L36S|ENST00000514488,p.L36S|uc003lds.3,p.L36S|ENST00000504023,p.L36S|ENST00000502929,p.L36S|uc003ldw.3,p.L36S|ENST00000509990,p.L36S|ENST00000394805,p.L36S|ENST00000508689,p.L36S|NM_199189,p.L36S|ENST00000503340,p.L36S|uc003ldz.3,p.L36S|ENST00000361059,p.L36S|NM_001194955,p.L36S|uc003ldx.3,p.L36S|ENST00000510056,p.L36S|ENST00000394800,p.L36S|ENST00000504045,p.L36S|NM_018834,p.L36S|uc010jfb.3,p.L36S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jfb.3	nonsynonymous SNV	exon4	c.T107C	p.L36S	AGIGLLAAATQSLSMPASLGRMNQG	AGIGLLAAATQSSSMPASLGRMNQG	10.0	1.0	unscreened	-	2098_5:138643211-138643211 T>C_AGIGLLAAATQSSSMPASLGRMNQG
4:44637950-44637950 G>A	0.0	2098	MELANOMA	-	-	-	-	YIPF7	ENST00000332990,p.P114L|NM_182592,p.P114L|uc021xnx.1,p.P114L	retained_intron, protein_coding, processed_transcript	uc021xnx.1	nonsynonymous SNV	exon3	c.C341T	p.P114L	QSPYIDSFDEEPPLLEELGIHFDHI	QSPYIDSFDEEPLLLEELGIHFDHI	3.0	2.0	unscreened	-	2098_4:44637950-44637950 G>A_QSPYIDSFDEEPLLLEELGIHFDHI
4:73935260-73935260 G>T	0.0	2098	MELANOMA	-	-	ID=COSM1735351;OCCURENCE=1(pancreas)	-	COX18	ENST00000295890,p.P36H|ENST00000507544,p.P36H|uc003hgm.1,p.P36H|NM_001297732,p.P36H|ENST00000510031,p.P36H|ENST00000449739,p.P36H|uc011cbc.1,p.P36H|NM_173827,p.P36H	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cbc.1	nonsynonymous SNV	exon1	c.C107A	p.P36H	PLAPVPTSGAKRPTLPVWAVAPVSA	PLAPVPTSGAKRHTLPVWAVAPVSA	7.0	1.0	unscreened	-	2098_4:73935260-73935260 G>T_PLAPVPTSGAKRHTLPVWAVAPVSA
9:108246780-108246780 C>T	0.0	2098	MELANOMA	-	-	-	-	FSD1L	ENST00000394926,p.P163S|uc011lvv.1,p.P195S|NM_001287191,p.P163S|NM_001287192,p.P163S|ENST00000539376,p.P38S|NM_001145313,p.P195S|ENST00000484973,p.P163S|ENST00000495708,p.P195S|ENST00000374710,p.P163S|uc004bcq.2,p.P163S|ENST00000481272,p.P195S|uc011lvw.1,p.P163S	retained_intron, protein_coding, processed_transcript	uc011lvw.1	nonsynonymous SNV	exon6	c.C487T	p.P163S	QERQMLQTLKFLPVPKAPEIDPVEC	QERQMLQTLKFLSVPKAPEIDPVEC	4.0	1.0	unscreened	-	2098_9:108246780-108246780 C>T_QERQMLQTLKFLSVPKAPEIDPVEC
5:35065964-35065964 C>T	1.0	2098	MELANOMA	-	-	-	-	PRLR	NM_000949,p.E366K|NM_001204314,p.E265K|ENST00000342362,p.E265K|uc003jjm.3,p.E366K|ENST00000382002,p.E366K|uc003jjl.4,p.E265K|ENST00000511486,p.E265K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003jjm.3	nonsynonymous SNV	exon10	c.G1096A	p.E366K	CDSPSLLSEKCEEPQANPSTFYDPE	CDSPSLLSEKCEKPQANPSTFYDPE	4.0	6.0	unscreened	-	2098_5:35065964-35065964 C>T_CDSPSLLSEKCEKPQANPSTFYDPE
19:33609982-33609982 G>A	1.0	2098	MELANOMA	-	-	-	-	GPATCH1	uc002nuh.1,p.R204K|uc002nug.1,p.R827K|NM_018025,p.R827K|ENST00000170564,p.R827K	retained_intron, protein_coding, nonsense_mediated_decay	uc002nuh.1	nonsynonymous SNV	exon4	c.G611A	p.R204K	PSFPIQKMQIDEREEFGPRLPPVFC	PSFPIQKMQIDEKEEFGPRLPPVFC	5.0	6.0	unscreened	-	2098_19:33609982-33609982 G>A_PSFPIQKMQIDEKEEFGPRLPPVFC
19:11144820-11144820 G>A	1.0	2098	MELANOMA	-	-	-	1	SMARCA4	uc002mqi.1,p.D469N|ENST00000589677,p.D1266N|uc010dxr.3,p.D1266N|uc010dxq.3,p.D1266N|ENST00000450717,p.D1266N|ENST00000444061,p.D1266N|NM_001128848,p.D1266N|NM_001128846,p.D1266N|ENST00000590574,p.D1266N|uc002mqj.4,p.D1266N|NM_001128845,p.D1266N|ENST00000538456,p.D146N|ENST00000413806,p.D1266N|NM_001128847,p.D1266N|ENST00000541122,p.D1266N|uc010dxt.1,p.D486N|uc010dxs.3,p.D1266N|uc002mqh.4,p.D389N	retained_intron, protein_coding, processed_transcript	uc010dxt.1	nonsynonymous SNV	exon12	c.G1456A	p.D486N	EEQDEEEDEVPDDETVNQMIARHEE	EEQDEEEDEVPDNETVNQMIARHEE	9.0	1.0	unscreened	-	2098_19:11144820-11144820 G>A_EEQDEEEDEVPDNETVNQMIARHEE
19:11144820-11144820 G>A	1.0	2098	MELANOMA	-	-	-	1	SMARCA4	uc010dxp.3,p.D1299N|ENST00000358026,p.D1299N|NM_001128844,p.D1299N|NM_003072,p.D1299N|uc010dxo.3,p.D1299N|uc002mqf.4,p.D1299N|NM_001128849,p.D1299N|ENST00000429416,p.D1299N|ENST00000344626,p.D1299N	retained_intron, protein_coding, processed_transcript	uc010dxp.3	nonsynonymous SNV	exon29	c.G3895A	p.D1299N	EPPLKEEDEVPDDETVNQMIARHEE	EPPLKEEDEVPDNETVNQMIARHEE	9.0	1.0	unscreened	-	2098_19:11144820-11144820 G>A_EPPLKEEDEVPDNETVNQMIARHEE
4:44637950-44637950 G>A	0.0	2098	MELANOMA	-	-	-	-	YIPF7	uc010ify.2,p.P114L	retained_intron, protein_coding, processed_transcript	uc010ify.2	nonsynonymous SNV	exon3	c.C341T	p.P114L	QSPYIDSFDEEPPLLEDKTWNPF	QSPYIDSFDEEPLLLEDKTWNPF	3.0	2.0	unscreened	-	2098_4:44637950-44637950 G>A_QSPYIDSFDEEPLLLEDKTWNPF
1:109556543-109556543 G>A	0.0	2098	MELANOMA	-	-	-	-	WDR47	ENST00000369965,p.R83C|uc001dwj.3,p.R83C|NM_001142551,p.R83C|ENST00000528747,p.R83C|uc001dwl.3,p.R83C|uc001dwi.3,p.R83C|NM_014969,p.R83C|ENST00000400794,p.R83C|ENST00000530772,p.R83C|ENST00000369962,p.R83C|NM_001142550,p.R83C	protein_coding	uc001dwl.3	nonsynonymous SNV	exon4	c.C247T	p.R83C	LECMEKFDKKRFRYIILKQKFLEAL	LECMEKFDKKRFCYIILKQKFLEAL	6.0	2.0	unscreened	-	2098_1:109556543-109556543 G>A_LECMEKFDKKRFCYIILKQKFLEAL
1:48697794-48697794 C>G	0.0	2098	MELANOMA	-	-	-	-	SLC5A9	uc001cro.2,p.L290V|uc001crn.2,p.L315V|NM_001135181,p.L315V|NM_001011547,p.L290V|ENST00000533824,p.L311V|ENST00000438567,p.L290V|ENST00000236495,p.L315V|uc010omt.1,p.L304V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010omt.1	nonsynonymous SNV	exon8	c.C910G	p.L304V	IPWPGLIFGLTVLATWCWCTDQVIV	IPWPGLIFGLTVVATWCWCTDQVIV	4.0	1.0	unscreened	-	2098_1:48697794-48697794 C>G_IPWPGLIFGLTVVATWCWCTDQVIV
1:26510707-26510707 C>T	0.0	2098	MELANOMA	-	-	-	-	CNKSR1	ENST00000374253,p.A317V|uc009vse.3,p.A52V|ENST00000531191,p.A52V|ENST00000361530,p.A310V|NM_006314,p.A310V|uc001bln.4,p.A317V|uc009vsd.3,p.A52V|NM_001297648,p.A52V|NM_001297647,p.A317V|uc001blm.4,p.A310V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009vse.3	nonsynonymous SNV	exon11	c.C155T	p.A52V	SPSLSLAPLSPRAPSEDVFAFDLSS	SPSLSLAPLSPRVPSEDVFAFDLSS	4.0	4.0	unscreened	-	2098_1:26510707-26510707 C>T_SPSLSLAPLSPRVPSEDVFAFDLSS
13:97639640-97639640 G>A	0.0	2098	MELANOMA	-	-	-	-	OXGR1	ENST00000298440,p.T125I|ENST00000543457,p.T125I|NM_080818,p.T125I|uc001vmx.1,p.T125I|uc010afr.1,p.T125I|uc021rlr.1,p.T125I	protein_coding	uc021rlr.1	nonsynonymous SNV	exon1	c.C374T	p.T125I	FHFNLYSSILFLTCFSIFRYCVIIH	FHFNLYSSILFLICFSIFRYCVIIH	1.0	3.0	unscreened	-	2098_13:97639640-97639640 G>A_FHFNLYSSILFLICFSIFRYCVIIH
18:72346172-72346172 C>T	0.0	2098	MELANOMA	-	-	-	-	ZNF407	ENST00000577538,p.A1066V|ENST00000299687,p.A1066V|uc002llu.2,p.A1065V|ENST00000309902,p.A1066V|uc010dqu.2,p.A1066V|NM_017757,p.A1066V|NM_001146190,p.A1066V|ENST00000582337,p.A1066V|uc010xfc.2,p.A1066V|NM_001146189,p.A1066V|uc002llw.2,p.A1066V	retained_intron, protein_coding, processed_transcript	uc010xfc.2	nonsynonymous SNV	exon1	c.C3197T	p.A1066V	YAVTRREMTRHAATEKHKMKRQSYL	YAVTRREMTRHAVTEKHKMKRQSYL	6.0	2.0	unscreened	-	2098_18:72346172-72346172 C>T_YAVTRREMTRHAVTEKHKMKRQSYL
8:133152357-133152357 T>G	0.0	2098	MELANOMA	-	-	-	-	KCNQ3	uc003yti.3,p.I392L|ENST00000521134,p.I392L|ENST00000388996,p.I512L|NM_004519,p.I512L|uc010mdt.3,p.I512L|uc003ytj.3,p.I512L|NM_001204824,p.I392L|ENST00000519445,p.I512L	retained_intron, protein_coding	uc010mdt.3	nonsynonymous SNV	exon11	c.A1534C	p.I512L	RGYGNDFPIEDMIPTLKAAIRAVRI	RGYGNDFPIEDMLPTLKAAIRAVRI	1.0	1.0	unscreened	-	2098_8:133152357-133152357 T>G_RGYGNDFPIEDMLPTLKAAIRAVRI
3:122631851-122631851 C>-	0.0	2098	MELANOMA	-	-	-	-	SEMA5B	NM_001256348,p.G797fs|uc011bju.2,p.G797fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc011bju.2	frameshift deletion	exon17	c.2390delG	p.G797fs	RSGSTSPHTVSGGWAAWGPWSSCSR	RSGSTSPHTVSGAGPPGARGRPAPGTASWASASARERALTRSPATGACPAWAMLPSTRTATPRLAQVRTSVSGCTRRRHYVPHRPAQKAGRPGLSGVSALTTEPRAEAGTVRSSSQGPAPVLETAARAAPAPTARFPSSCQPPAWRRPPTVQGSISSTWWPRASPASWALGS	2.0	2.0	unscreened	-	2098_3:122631851-122631851 C>-_RSGSTSPHTVSGAGPPGARGRPAPGTASWASASARERALTRSPATGACPAWAMLPSTRTATPRLAQVRTSVSGCTRRRHYVPHRPAQKAGRPGLSGVSALTTEPRAEAGTVRSSSQGPAPVLETAARAAPAPTARFPSSCQPPAWRRPPTVQGSISSTWWPRASPASWALGS
10:96484223-96484223 T>C	0.0	2098	MELANOMA	-	-	-	-	CYP2C18	NM_001128925,p.L302P|uc001kjw.4,p.L302P|ENST00000285979,p.L361P|ENST00000339022,p.L302P|uc001kjv.4,p.L361P|NM_000772,p.L361P	protein_coding, processed_transcript	uc001kjw.4	nonsynonymous SNV	exon6	c.T905C	p.L302P	DAVVHEIQRYIDLLPTNLPHAVTCD	DAVVHEIQRYIDPLPTNLPHAVTCD	1.0	3.0	unscreened	-	2098_10:96484223-96484223 T>C_DAVVHEIQRYIDPLPTNLPHAVTCD
19:1434817-1434817 C>T	1.0	2098	MELANOMA	-	-	-	-	DAZAP1	uc002lsn.3,p.S377F|ENST00000233078,p.S377F|NM_018959,p.S377F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lsn.3	nonsynonymous SNV	exon12	c.C1130T	p.S377F	DPSQQPPSYGGPSVPGSGGPPAGGS	DPSQQPPSYGGPFVPGSGGPPAGGS	10.0	4.0	unscreened	-	2098_19:1434817-1434817 C>T_DPSQQPPSYGGPFVPGSGGPPAGGS
22:40416003-40416003 G>A	0.0	2098	MELANOMA	-	-	-	-	FAM83F	ENST00000333407,p.G257E|uc003ayk.1,p.G257E|NM_138435,p.G257E	protein_coding, processed_transcript	uc003ayk.1	nonsynonymous SNV	exon3	c.G770A	p.G257E	RFLMVDGDKVATGSYRFTWSSSHVD	RFLMVDGDKVATESYRFTWSSSHVD	1.0	6.0	unscreened	-	2098_22:40416003-40416003 G>A_RFLMVDGDKVATESYRFTWSSSHVD
15:93015571-93015571 G>A	0.0	2098	MELANOMA	-	-	-	-	C15orf32	NM_001301106,p.G65R|uc002brc.1,p.G65R|NM_153040,p.G65R|ENST00000556865,p.G65R|ENST00000333334,p.G65R	protein_coding	uc002brc.1	nonsynonymous SNV	exon1	c.G193A	p.G65R	TLCEMLSILALVGVLHPFYRSNNQV	TLCEMLSILALVRVLHPFYRSNNQV	1.0	9.0	unscreened	-	2098_15:93015571-93015571 G>A_TLCEMLSILALVRVLHPFYRSNNQV
4:177094486-177094486 C>T	0.0	2098	MELANOMA	-	-	-	-	WDR17	uc003iuj.3,p.R1144C|ENST00000507824,p.R1119C|NM_170710,p.R1144C|uc003iun.3,p.R355C|ENST00000280190,p.R1144C|ENST00000508596,p.R1105C|NM_181265,p.R1105C|uc003ium.4,p.R1105C|ENST00000393643,p.R1120C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003iun.3	nonsynonymous SNV	exon11	c.C1063T	p.R355C	TIYPVLDLLSYIRTEKLLLHTCTEA	TIYPVLDLLSYICTEKLLLHTCTEA	1.0	10.0	unscreened	-	2098_4:177094486-177094486 C>T_TIYPVLDLLSYICTEKLLLHTCTEA
18:70526289-70526289 C>T	0.0	2098	MELANOMA	-	-	-	-	NETO1	uc002lkz.3,p.E80K|ENST00000327305,p.E81K|uc002lky.2,p.E81K|ENST00000583169,p.E81K|ENST00000397929,p.E80K|ENST00000299430,p.E80K|NM_138999,p.E80K|ENST00000579169,p.E77K|NM_138966,p.E81K|uc002lkw.3,p.E81K|NM_001201465,p.E81K	protein_coding, processed_transcript	uc002lkz.3	nonsynonymous SNV	exon4	c.G238A	p.E80K	IYIIEAAPRQCIELYFDEKYSIEPS	IYIIEAAPRQCIKLYFDEKYSIEPS	1.0	2.0	unscreened	-	2098_18:70526289-70526289 C>T_IYIIEAAPRQCIKLYFDEKYSIEPS
18:52551603-52551603 G>A	0.0	2098	MELANOMA	-	-	-	-	RAB27B	uc002lfr.3,p.M93I|NM_004163,p.M93I|ENST00000262094,p.M93I	protein_coding, processed_transcript	uc002lfr.3	nonsynonymous SNV	exon4	c.G279A	p.M93I	FRSLTTAFFRDAMGFLLMFDLTSQQ	FRSLTTAFFRDAIGFLLMFDLTSQQ	2.0	5.0	unscreened	-	2098_18:52551603-52551603 G>A_FRSLTTAFFRDAIGFLLMFDLTSQQ
7:137773434-137773434 G>A	0.0	2098	MELANOMA	-	-	ID=COSM745486;OCCURENCE=1(lung)	-	AKR1D1	ENST00000242375,p.E61K|ENST00000411726,p.E61K|ENST00000432161,p.E61K|uc011kqf.2,p.E61K|uc011kqb.1,p.E61K|NM_001190907,p.E61K|uc003vtz.3,p.E61K|NM_001190906,p.E61K|uc011kqe.1,p.E61K|NM_005989,p.E61K	retained_intron, protein_coding, processed_transcript	uc011kqf.2	nonsynonymous SNV	exon2	c.G181A	p.E61K	YRHIDGAYIYQNEHEVGEAIREKIA	YRHIDGAYIYQNKHEVGEAIREKIA	1.0	9.0	unscreened	-	2098_7:137773434-137773434 G>A_YRHIDGAYIYQNKHEVGEAIREKIA
12:132491275-132491275 G>A	1.0	2098	MELANOMA	-	-	-	-	EP400	uc001ujn.3,p.G1053R|ENST00000330386,p.G1053R|NM_015409,p.G1053R|ENST00000332482,p.G1016R|uc001ujm.3,p.G1053R|ENST00000389562,p.G1052R|ENST00000333577,p.G1089R|ENST00000389561,p.G1053R	protein_coding, processed_transcript	uc001ujn.3	nonsynonymous SNV	exon15	c.G3157A	p.G1053R	TSVKFNAPSLLYGALRDYQKIGLDW	TSVKFNAPSLLYRALRDYQKIGLDW	7.0	7.0	unscreened	-	2098_12:132491275-132491275 G>A_TSVKFNAPSLLYRALRDYQKIGLDW
1:3624185-3624185 C>T	0.0	2098	MELANOMA	-	-	-	-	TP73	uc010nzk.2,p.P16S|ENST00000604479,p.P87S|NM_001204190,p.P38S|NM_001126241,p.P38S|uc009vll.3,p.P16S|ENST00000604074,p.P87S|NM_001204185,p.P87S|uc021ofd.1,p.P87S|uc021off.1,p.P87S|uc021ofe.1,p.P87S|NM_001204191,p.P38S|uc021ofb.1,p.P87S|uc010nzj.2,p.P38S|NM_005427,p.P87S|NM_001204186,p.P87S|NM_001204192,p.P16S|NM_001204184,p.P87S|NM_001126240,p.P38S|uc021ofh.1,p.P38S|NM_001204188,p.P87S|uc009vlk.2,p.P38S|uc021ofc.1,p.P87S|ENST00000378288,p.P38S|ENST00000603362,p.P87S|uc001akr.3,p.P38S|NM_001204189,p.P38S|NM_001204187,p.P87S|ENST00000346387,p.P87S|ENST00000357733,p.P87S|uc001aks.3,p.P38S|ENST00000378285,p.P38S|uc021ofg.1,p.P38S|ENST00000378290,p.P16S|ENST00000378295,p.P87S|uc021ofi.1,p.P38S|ENST00000378280,p.P38S|uc001akp.3,p.P87S|ENST00000354437,p.P87S|NM_001126242,p.P38S	protein_coding	uc021ofi.1	nonsynonymous SNV	exon2	c.C112T	p.P38S	MSSRAASASPYTPEHAASVPTHSPY	MSSRAASASPYTSEHAASVPTHSPY	3.0	3.0	unscreened	-	2098_1:3624185-3624185 C>T_MSSRAASASPYTSEHAASVPTHSPY
4:159618718-159618718 T>-	0.0	2098	MELANOMA	-	-	-	-	ETFDH	uc011cjg.2,p.V233fs|uc011cjh.2,p.V219fs|ENST00000511912,p.V280fs|ENST00000307738,p.V233fs|NM_001281737,p.V233fs|uc003iqb.3,p.V280fs|NM_004453,p.V280fs|NM_001281738,p.V219fs|uc010iqs.3,p.V202fs|ENST00000507475,p.V115fs	retained_intron, protein_coding, processed_transcript	uc011cjh.2	frameshift deletion	exon6	c.656delT	p.V219fs	PQTYGIGLKELWVIDEKNWKPGRVD	PQTYGIGLKELWVLMKRTGNLGE	7.0	4.0	unscreened	-	2098_4:159618718-159618718 T>-_PQTYGIGLKELWVLMKRTGNLGE
3:48508875-48508875 C>T	1.0	2098	MELANOMA	-	-	-	-	TREX1	ENST00000444177,p.P264L|ENST00000433541,p.P135L|ENST00000456089,p.P135L|NM_033629,p.P274L|uc003ctj.3,p.P329L|uc003ctk.3,p.P135L|uc010hka.4,p.P329L|uc010hjz.3,p.P274L|uc031rzp.1,p.P264L|NM_007248,p.P264L|uc010hjy.3,p.P274L|ENST00000436480,p.P274L|ENST00000296443,p.P274L|ENST00000422277,p.P329L|NM_016381,p.P329L	retained_intron, protein_coding, processed_transcript	uc031rzp.1	nonsynonymous SNV	exon2	c.C791T	p.P264L	PSLGESRGTKDLPPVKDPGALSREG	PSLGESRGTKDLLPVKDPGALSREG	6.0	9.0	unscreened	-	2098_3:48508875-48508875 C>T_PSLGESRGTKDLLPVKDPGALSREG
1:119927555-119927555 C>T	0.0	2098	MELANOMA	-	-	-	-	HAO2	ENST00000325945,p.S147F|uc001ehr.1,p.S147F|NM_016527,p.S147F|ENST00000361035,p.S160F|ENST00000457318,p.S122F|uc001ehq.1,p.S147F|NM_001005783,p.S160F	protein_coding, processed_transcript	uc001ehr.1	nonsynonymous SNV	exon4	c.C440T	p.S147F	LQLNKQLIQRVESLGFKALVITLDT	LQLNKQLIQRVEFLGFKALVITLDT	1.0	10.0	unscreened	-	2098_1:119927555-119927555 C>T_LQLNKQLIQRVEFLGFKALVITLDT
1:103544271-103544271 C>T	0.0	2098	MELANOMA	-	-	-	-	COL11A1	NM_001190709,p.G144E|NM_080630,p.G144E|ENST00000427239,p.G144E|NM_001854,p.G144E|uc009weh.3,p.G144E|ENST00000512756,p.G144E|uc001dul.3,p.G144E|ENST00000447608,p.G71E|NM_080629,p.G144E|ENST00000358392,p.G144E|ENST00000370096,p.G144E|uc001dun.3,p.G144E|uc001dum.3,p.G144E|ENST00000353414,p.G144E	retained_intron, protein_coding, processed_transcript	uc009weh.3	nonsynonymous SNV	exon3	c.G431A	p.G144E	GRSPVFLFEDHTGKPAPEDYPLFRT	GRSPVFLFEDHTEKPAPEDYPLFRT	4.0	10.0	unscreened	-	2098_1:103544271-103544271 C>T_GRSPVFLFEDHTEKPAPEDYPLFRT
16:7568254-7568254 C>T	0.0	2098	MELANOMA	-	-	-	-	RBFOX1	ENST00000547338,p.H45Y|uc002cyx.2,p.H65Y|ENST00000340209,p.H50Y|uc010uyb.1,p.H45Y|uc002cyy.2,p.H65Y|NM_001142334,p.H45Y|NM_145891,p.H65Y|uc002cys.2,p.H45Y|ENST00000570626,p.H47Y|NM_001142333,p.H45Y|uc002cyt.2,p.H45Y|ENST00000551752,p.H45Y|ENST00000355637,p.H65Y|ENST00000547372,p.H88Y|ENST00000547605,p.H45Y|uc002cyr.1,p.H45Y|uc002cyv.1,p.H45Y|ENST00000550418,p.H45Y|ENST00000553186,p.H45Y|uc010uxz.1,p.H88Y|uc002cyw.2,p.H65Y|NM_018723,p.H45Y|ENST00000535565,p.H81Y|uc010uya.1,p.H81Y|ENST00000436368,p.H65Y|ENST00000422070,p.H88Y|ENST00000311745,p.H65Y|ENST00000552089,p.H81Y|uc010buf.1,p.H45Y|uc010uyc.1,p.H65Y|NM_145892,p.H65Y|NM_145893,p.H65Y	retained_intron, protein_coding, processed_transcript	uc010uyc.1	nonsynonymous SNV	exon2	c.C193T	p.H65Y	PQNGIPAEYTAPHPHPAPEYTGQTT	PQNGIPAEYTAPYPHPAPEYTGQTT	1.0	10.0	unscreened	-	2098_16:7568254-7568254 C>T_PQNGIPAEYTAPYPHPAPEYTGQTT
5:35065783-35065783 G>A	1.0	2098	MELANOMA	-	-	-	-	PRLR	ENST00000511486,p.P325L|NM_000949,p.P426L|NM_001204314,p.P325L|ENST00000342362,p.P325L|uc003jjm.3,p.P426L|uc003jjl.4,p.P325L|ENST00000382002,p.P426L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003jjm.3	nonsynonymous SNV	exon10	c.C1277T	p.P426L	STWPLPQPSQHNPRSSYHNITDVCE	STWPLPQPSQHNLRSSYHNITDVCE	4.0	10.0	unscreened	-	2098_5:35065783-35065783 G>A_STWPLPQPSQHNLRSSYHNITDVCE
21:43412167-43412167 G>A	0.0	2098	MELANOMA	-	-	-	-	ZBTB21	ENST00000398511,p.R680C|uc002zab.4,p.R680C|uc002zaa.4,p.R680C|ENST00000398499,p.R680C|NM_001098402,p.R680C|NM_020727,p.R680C|uc021wjo.1,p.R680C|ENST00000310826,p.R680C|uc002yzy.4,p.R680C	protein_coding, processed_transcript	uc021wjo.1	nonsynonymous SNV	exon1	c.C2038T	p.R680C	GAYICTYCGKAYRFLSQFKQHIKMH	GAYICTYCGKAYCFLSQFKQHIKMH	6.0	2.0	unscreened	-	2098_21:43412167-43412167 G>A_GAYICTYCGKAYCFLSQFKQHIKMH
2:113832909-113832909 C>T	0.0	2098	MELANOMA	-	-	-	-	IL1F10	ENST00000337569,p.R143C|NM_032556,p.R143C|ENST00000341010,p.R143C|uc002tiu.3,p.R143C|ENST00000393197,p.R143C|uc002tiv.3,p.R143C|uc002tiw.3,p.R135C|NM_173161,p.R143C	retained_intron, protein_coding	uc002tiw.3	nonsynonymous SNV	exon2	c.C403T	p.R135C	PVQLTKESEPSARTKFYFEQSW	PVQLTKESEPSACTKFYFEQSW	1.0	8.0	unscreened	-	2098_2:113832909-113832909 C>T_PVQLTKESEPSACTKFYFEQSW
1:216251499-216251499 G>A	0.0	2098	MELANOMA	0.0005	-	-	-	USH2A	ENST00000366943,p.S1835L|uc001hku.1,p.S1835L|NM_206933,p.S1835L|ENST00000307340,p.S1835L	retained_intron, protein_coding	uc001hku.1	nonsynonymous SNV	exon27	c.C5504T	p.S1835L	ASESGDQPLVVNSPVYVGGIPQELL	ASESGDQPLVVNLPVYVGGIPQELL	1.0	1.0	unscreened	-	2098_1:216251499-216251499 G>A_ASESGDQPLVVNLPVYVGGIPQELL
15:85230905-85230905 C>T	1.0	2098	MELANOMA	-	-	-	-	SEC11A	ENST00000558217,p.E84K|NM_001271919,p.E88K|uc002blb.2,p.E88K|NM_001271918,p.E62K|ENST00000455959,p.E62K|ENST00000558134,p.E88K|NM_001271922,p.E88K|ENST00000558196,p.E62K|uc002blc.2,p.E62K|ENST00000560409,p.E88K|uc031qtf.1,p.E88K|uc031qti.1,p.E88K|uc031qtg.1,p.E88K|ENST00000268220,p.E88K|NM_014300,p.E88K|NM_001271920,p.E88K|ENST00000560266,p.E88K	retained_intron, protein_coding, nonsense_mediated_decay	uc031qti.1	nonsynonymous SNV	exon3	c.G262A	p.E88K	PIRVGEIVVFRIEGREIPIVHRVLK	PIRVGEIVVFRIKGREIPIVHRVLK	10.0	2.0	unscreened	-	2098_15:85230905-85230905 C>T_PIRVGEIVVFRIKGREIPIVHRVLK
1:152732591-152732591 G>A	0.0	2098	MELANOMA	-	-	-	-	KPRP	ENST00000606109,p.G176E|ENST00000368773,p.G176E|NM_001025231,p.G176E|uc001fal.1,p.G176E|uc021ozf.1,p.G176E	protein_coding	uc021ozf.1	nonsynonymous SNV	exon1	c.G527A	p.G176E	MYRGRPAVCQPQGRFSTQCQYQGSY	MYRGRPAVCQPQERFSTQCQYQGSY	1.0	7.0	unscreened	-	2098_1:152732591-152732591 G>A_MYRGRPAVCQPQERFSTQCQYQGSY
7:42006020-42006020 C>T	1.0	2098	MELANOMA	-	-	-	-	GLI3	uc011kbg.2,p.G825D|NM_000168,p.G884D|uc011kbh.2,p.G884D|ENST00000395925,p.G884D	retained_intron, protein_coding, processed_transcript	uc011kbh.2	nonsynonymous SNV	exon15	c.G2651A	p.G884D	SSRRSSEASQAEGRPQNVSVADSYD	SSRRSSEASQAEDRPQNVSVADSYD	9.0	3.0	unscreened	-	2098_7:42006020-42006020 C>T_SSRRSSEASQAEDRPQNVSVADSYD
8:52325776-52325776 G>A	0.0	2098	MELANOMA	-	-	-	-	PXDNL	uc003xqu.4,p.S613F|ENST00000356297,p.S613F|NM_144651,p.S613F|ENST00000543296,p.S613F	retained_intron, protein_coding, nonsense_mediated_decay	uc003xqu.4	nonsynonymous SNV	exon15	c.C1838T	p.S613F	QGRQAGDDFVESSILDAVQRVDSAI	QGRQAGDDFVESFILDAVQRVDSAI	1.0	5.0	unscreened	-	2098_8:52325776-52325776 G>A_QGRQAGDDFVESFILDAVQRVDSAI
2:74307684-74307684 G>A	1.0	2098	MELANOMA	-	-	-	-	TET3	ENST00000409262,p.G747E|NM_001287491,p.G882E|uc031roi.1,p.G747E|uc002skb.5,p.G882E	retained_intron, protein_coding	uc031roi.1	nonsynonymous SNV	exon3	c.G2240A	p.G747E	IRIEKVIYTGKEGKSSRGCPIAKWV	IRIEKVIYTGKEEKSSRGCPIAKWV	6.0	6.0	unscreened	-	2098_2:74307684-74307684 G>A_IRIEKVIYTGKEEKSSRGCPIAKWV
12:9027028-9027028 A>G	0.0	2098	MELANOMA	-	-	-	-	A2ML1	ENST00000299698,p.K1410R|uc001qva.1,p.K990R|ENST00000541459,p.K960R|NM_144670,p.K1410R|uc001quz.5,p.K1410R|uc010sgm.3,p.K910R|ENST00000539547,p.K919R|NM_001282424,p.K919R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sgm.3	nonsynonymous SNV	exon23	c.A2729G	p.K910R	TDTLNIYLDELIKNTQTYTFTISQS	TDTLNIYLDELIRNTQTYTFTISQS	1.0	8.0	unscreened	-	2098_12:9027028-9027028 A>G_TDTLNIYLDELIRNTQTYTFTISQS
4:47887553-47887553 G>A	1.0	2098	MELANOMA	-	-	-	-	NFXL1	uc010igi.3,p.P596S|ENST00000507489,p.P596S|uc003gxp.3,p.P596S|ENST00000464756,p.P596S|ENST00000329043,p.P596S|NM_001278624,p.P596S|ENST00000381538,p.P596S|NM_152995,p.P596S|uc010igh.3,p.P596S|NM_001278623,p.P596S	retained_intron, protein_coding, nonsense_mediated_decay	uc010igi.3	nonsynonymous SNV	exon14	c.C1786T	p.P596S	KVLEKCGHLCPAPCHDQALIKQTGR	KVLEKCGHLCPASCHDQALIKQTGR	6.0	9.0	unscreened	-	2098_4:47887553-47887553 G>A_KVLEKCGHLCPASCHDQALIKQTGR
19:58565357-58565357 T>A	0.0	2098	MELANOMA	-	-	-	-	ZSCAN1	ENST00000282326,p.F389I|uc002qrc.1,p.F389I|NM_182572,p.F389I	protein_coding	uc002qrc.1	nonsynonymous SNV	exon6	c.T1165A	p.F389I	KRPFQCSVCGKAFPWMVHLIDHQKL	KRPFQCSVCGKAIPWMVHLIDHQKL	1.0	2.0	unscreened	-	2098_19:58565357-58565357 T>A_KRPFQCSVCGKAIPWMVHLIDHQKL
4:109765680-109765680 G>A	1.0	2098	MELANOMA	-	-	-	-	COL25A1	ENST00000494183,p.P455L	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000494183	nonsynonymous SNV	exon27	c.C1364T	p.P455L	PTRPTRSPWPTWPHGTSWTSWTKGS	PTRPTRSPWPTWLHGTSWTSWTKGS	6.0	7.0	unscreened	-	2098_4:109765680-109765680 G>A_PTRPTRSPWPTWLHGTSWTSWTKGS
5:41203260-41203260 C>T	0.0	2098	MELANOMA	-	-	-	-	C6	uc003jml.2,p.D25N|ENST00000263413,p.D25N|uc003jmk.3,p.D25N|ENST00000337836,p.D25N|ENST00000417809,p.D25N|NM_001115131,p.D25N|NM_000065,p.D25N	retained_intron, protein_coding, processed_transcript	uc003jml.2	nonsynonymous SNV	exon2	c.G73A	p.D25N	NALINKGQACFCDHYAWTQWTSCSK	NALINKGQACFCNHYAWTQWTSCSK	1.0	10.0	unscreened	-	2098_5:41203260-41203260 C>T_NALINKGQACFCNHYAWTQWTSCSK
1:207300098-207300098 G>T	0.0	2098	MELANOMA	-	-	-	-	C4BPA	ENST00000367070,p.M249I|uc001hfo.3,p.M249I|NM_000715,p.M249I	protein_coding, nonsense_mediated_decay	uc001hfo.3	nonsynonymous SNV	exon7	c.G747T	p.M249I	ITCRKPDVSHGEMVSGFGPIYNYKD	ITCRKPDVSHGEIVSGFGPIYNYKD	1.0	8.0	unscreened	-	2098_1:207300098-207300098 G>T_ITCRKPDVSHGEIVSGFGPIYNYKD
18:52551604-52551604 G>A	0.0	2098	MELANOMA	-	-	-	-	RAB27B	NM_004163,p.G94S|uc002lfr.3,p.G94S|ENST00000262094,p.G94S	protein_coding, processed_transcript	uc002lfr.3	nonsynonymous SNV	exon4	c.G280A	p.G94S	RSLTTAFFRDAMGFLLMFDLTSQQS	RSLTTAFFRDAMSFLLMFDLTSQQS	2.0	4.0	unscreened	-	2098_18:52551604-52551604 G>A_RSLTTAFFRDAMSFLLMFDLTSQQS
5:151235895-151235895 C>T	0.0	2098	MELANOMA	-	-	-	-	GLRA1	uc003lur.3,p.D176N|uc003lus.3,p.D93N|ENST00000455880,p.D176N|ENST00000274576,p.D176N|NM_001292000,p.D93N|NM_001146040,p.D176N|NM_000171,p.D176N|uc003lut.3,p.D176N|ENST00000545569,p.D93N	protein_coding, processed_transcript, nonsense_mediated_decay	uc003lut.3	nonsynonymous SNV	exon5	c.G526A	p.D176N	LACPMDLKNFPMDVQTCIMQLESFG	LACPMDLKNFPMNVQTCIMQLESFG	1.0	10.0	unscreened	-	2098_5:151235895-151235895 C>T_LACPMDLKNFPMNVQTCIMQLESFG
6:32151172-32151172 G>A	0.0	2098	MELANOMA	-	-	-	-	AGER	uc011dpo.2,p.P30S|uc021yvm.1,p.P30S|ENST00000450110,p.P130S|uc021yvo.1,p.P30S	retained_intron, protein_coding	uc021yvo.1	nonsynonymous SNV	exon3	c.C88T	p.P30S	TFTITASDWIFPPSEIPGKPEIVDS	TFTITASDWIFPSSEIPGKPEIVDS	7.0	1.0	unscreened	-	2098_6:32151172-32151172 G>A_TFTITASDWIFPSSEIPGKPEIVDS
8:55537407-55537407 C>T	0.0	2098	MELANOMA	-	-	-	-	RP1	uc003xsd.1,p.S322L|NM_006269,p.S322L|ENST00000220676,p.S322L	protein_coding	uc003xsd.1	nonsynonymous SNV	exon4	c.C965T	p.S322L	LPIYPSEDDIEKSIIFNQDGTMTVE	LPIYPSEDDIEKLIIFNQDGTMTVE	1.0	9.0	unscreened	-	2098_8:55537407-55537407 C>T_LPIYPSEDDIEKLIIFNQDGTMTVE
X:153222505-153222505 G>A	1.0	2098	MELANOMA	-	-	-	-	HCFC1	uc004fjp.3,p.T787I|ENST00000354233,p.T718I|ENST00000310441,p.T787I|ENST00000369984,p.T787I|NM_005334,p.T787I	protein_coding, processed_transcript	uc004fjp.3	nonsynonymous SNV	exon14	c.C2360T	p.T787I	SAIITQAGATGVTSSPGIKSPITII	SAIITQAGATGVISSPGIKSPITII	8.0	9.0	unscreened	-	2098_X:153222505-153222505 G>A_SAIITQAGATGVISSPGIKSPITII
11:64375106-64375106 G>T	1.0	2098	MELANOMA	-	-	-	-	NRXN2	ENST00000377551,p.H1567Q|ENST00000409571,p.H1560Q|uc001oao.3,p.H207Q|uc001oap.3,p.H521Q|NM_015080,p.H1567Q|uc021qkx.1,p.H1497Q|uc001oas.3,p.H1497Q|NM_138734,p.H521Q|uc001oaq.3,p.H1234Q|ENST00000265459,p.H1567Q|NM_138732,p.H1497Q|ENST00000301894,p.H521Q|uc021qkw.1,p.H1567Q|ENST00000377559,p.H1497Q	retained_intron, protein_coding, processed_transcript	uc021qkx.1	nonsynonymous SNV	exon20	c.C4491A	p.H1497Q	APAPNLPAGKMNHRDPLQPLLENPP	APAPNLPAGKMNQRDPLQPLLENPP	4.0	4.0	unscreened	-	2098_11:64375106-64375106 G>T_APAPNLPAGKMNQRDPLQPLLENPP
15:48493601-48493601 G>A	0.0	2098	MELANOMA	-	-	-	-	CTXN2	NM_001145668,p.G35E|ENST00000541248,p.G35E|ENST00000417307,p.G35E|uc001zwm.1,p.G35E|uc021skq.1,p.G35E	protein_coding	uc021skq.1	nonsynonymous SNV	exon1	c.G104A	p.G35E	LTLEQKTGFAFVGILCIFLGLLIIR	LTLEQKTGFAFVEILCIFLGLLIIR	1.0	2.0	unscreened	-	2098_15:48493601-48493601 G>A_LTLEQKTGFAFVEILCIFLGLLIIR
1:196876092-196876092 G>A	0.0	2098	MELANOMA	-	-	-	-	CFHR4	uc001gtp.3,p.E181K|NM_001201550,p.E181K|NM_001201551,p.E180K|uc009wyy.3,p.E180K|ENST00000367416,p.E180K	protein_coding	uc009wyy.3	nonsynonymous SNV	exon4	c.G538A	p.E180K	HDTLDYECYDGYESSYGNTTDSIVC	HDTLDYECYDGYKSSYGNTTDSIVC	1.0	10.0	unscreened	-	2098_1:196876092-196876092 G>A_HDTLDYECYDGYKSSYGNTTDSIVC
19:59081803-59081803 G>A	1.0	2098	MELANOMA	-	-	-	-	MZF1	ENST00000599369,p.P163L|NM_003422,p.P163L|uc002qtn.3,p.P163L|ENST00000594108,p.P163L|uc031rnj.1,p.P163L|uc010euu.1,p.P204L|uc002qto.3,p.P163L|NM_198055,p.P163L|NM_001267033,p.P163L|ENST00000594234,p.P163L|ENST00000215057,p.P163L	retained_intron, protein_coding	uc031rnj.1	nonsynonymous SNV	exon3	c.C488T	p.P163L	SFQPLPETEPPTPEPGPKTPPRTMQ	SFQPLPETEPPTLEPGPKTPPRTMQ	9.0	8.0	unscreened	-	2098_19:59081803-59081803 G>A_SFQPLPETEPPTLEPGPKTPPRTMQ
7:103053476-103053476 G>A	0.0	2098	MELANOMA	-	-	-	-	SLC26A5	NM_206884,p.L126F|ENST00000393727,p.L126F|uc003vbt.2,p.L126F|ENST00000393723,p.L126F|uc003vbz.3,p.L126F|ENST00000393730,p.L126F|ENST00000445809,p.L126F|ENST00000356767,p.L126F|ENST00000393735,p.L126F|uc003vbu.2,p.L126F|NM_198999,p.L126F|ENST00000432958,p.L126F|NM_206885,p.L126F|ENST00000339444,p.L126F|ENST00000306312,p.L126F|uc003vbx.3,p.L126F|ENST00000454864,p.L126F|NM_206883,p.L126F|uc003vbv.2,p.L126F|ENST00000423416,p.L126F|NM_001167962,p.L126F	retained_intron, protein_coding, nonsense_mediated_decay	uc003vbz.3	nonsynonymous SNV	exon5	c.C376T	p.L126F	YSSFYPVIMYCFLGTSRHISIGPFA	YSSFYPVIMYCFFGTSRHISIGPFA	1.0	9.0	unscreened	-	2098_7:103053476-103053476 G>A_YSSFYPVIMYCFFGTSRHISIGPFA
X:78427255-78427255 C>T	0.0	2098	MELANOMA	-	-	-	-	GPR174	uc004edg.1,p.P251S|ENST00000276077,p.P251S|NM_032553,p.P251S	protein_coding	uc004edg.1	nonsynonymous SNV	exon1	c.C751T	p.P251S	FLICFAPYHFSFPLDFLVKSNEIKS	FLICFAPYHFSFSLDFLVKSNEIKS	1.0	6.0	unscreened	-	2098_X:78427255-78427255 C>T_FLICFAPYHFSFSLDFLVKSNEIKS
8:97621767-97621767 T>G	1.0	2098	MELANOMA	-	-	-	-	SDC2	uc003yhv.1,p.F199L|ENST00000519914,p.F170L|ENST00000302190,p.F199L|uc011lgu.1,p.F170L|ENST00000518385,p.F163L|ENST00000522911,p.F170L|NM_002998,p.F199L	protein_coding, processed_transcript	uc011lgu.1	nonsynonymous SNV	exon5	c.T510G	p.F170L	SSAAYQKAPTKEFYA	SSAAYQKAPTKELYA	10.0	2.0	unscreened	-	2098_8:97621767-97621767 T>G_SSAAYQKAPTKELYA
20:3730733-3730733 T>A	0.0	2098	MELANOMA	-	-	-	-	HSPA12B	NM_001197327,p.L386Q|ENST00000399701,p.L301Q|ENST00000542646,p.L221Q|uc002wje.3,p.L300Q|NM_052970,p.L387Q|uc002wjd.3,p.L387Q|uc010zqi.2,p.L386Q|uc010zqj.2,p.L221Q|ENST00000254963,p.L387Q	protein_coding	uc010zqj.2	nonsynonymous SNV	exon9	c.T662A	p.L221Q	TFKRQRPAAWVDLTIAFEARKRTAG	TFKRQRPAAWVDQTIAFEARKRTAG	2.0	1.0	unscreened	-	2098_20:3730733-3730733 T>A_TFKRQRPAAWVDQTIAFEARKRTAG
20:61461893-61461893 C>A	1.0	2098	MELANOMA	-	-	-	-	COL9A3	uc002ydm.3,p.P414T|ENST00000343916,p.P414T|NM_001853,p.P414T	retained_intron, protein_coding, processed_transcript	uc002ydm.3	nonsynonymous SNV	exon24	c.C1240A	p.P414T	RGFQGQKGSMGDPGLPGPQGLRGDV	RGFQGQKGSMGDTGLPGPQGLRGDV	10.0	1.0	unscreened	-	2098_20:61461893-61461893 C>A_RGFQGQKGSMGDTGLPGPQGLRGDV
5:148563124-148563124 C>T	1.0	2098	MELANOMA	-	-	-	-	ABLIM3	NM_001301027,p.T23I|uc003lqa.1,p.T23I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003lqa.1	nonsynonymous SNV	exon2	c.C68T	p.T23I	PAKGKWSACTTTTSTSDASPVKYVA	PAKGKWSACTTTISTSDASPVKYVA	7.0	4.0	unscreened	-	2098_5:148563124-148563124 C>T_PAKGKWSACTTTISTSDASPVKYVA
19:9071593-9071593 G>A	0.0	2098	MELANOMA	-	-	-	2	MUC16	NM_024690,p.P5285S|uc002mkp.3,p.P5285S|ENST00000397910,p.P5285S	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C15853T	p.P5285S	ASPPESASHSTLPLDTSTTLSQGGT	ASPPESASHSTLSLDTSTTLSQGGT	1.0	9.0	unscreened	-	2098_19:9071593-9071593 G>A_ASPPESASHSTLSLDTSTTLSQGGT
2:220342823-220342823 G>A	0.0	2098	MELANOMA	-	-	-	-	SPEG	ENST00000312358,p.E1675K|NM_005876,p.E1675K|uc010fwg.3,p.E1675K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fwg.3	nonsynonymous SNV	exon22	c.G5023A	p.E1675K	AFERRRGLVIVTELCTEELLERIAR	AFERRRGLVIVTKLCTEELLERIAR	7.0	6.0	unscreened	-	2098_2:220342823-220342823 G>A_AFERRRGLVIVTKLCTEELLERIAR
2:229890602-229890602 C>T	0.0	2098	MELANOMA	-	-	-	-	PID1	ENST00000409462,p.A85T|uc002vpr.4,p.A167T|uc002vps.4,p.A165T|uc002vpt.4,p.A134T|uc002vpu.4,p.A85T|NM_001100818,p.A134T|ENST00000354069,p.A167T|ENST00000392054,p.A165T|NM_017933,p.A165T|ENST00000392055,p.A134T	protein_coding, processed_transcript, nonsense_mediated_decay	uc002vpu.4	nonsynonymous SNV	exon2	c.G253A	p.A85T	TVHMDTFQVARIAYCTADHNVSPNI	TVHMDTFQVARITYCTADHNVSPNI	1.0	8.0	unscreened	-	2098_2:229890602-229890602 C>T_TVHMDTFQVARITYCTADHNVSPNI
15:92459472-92459472 G>A	1.0	2098	MELANOMA	-	-	-	-	SLCO3A1	ENST00000424469,p.A144T|NM_001145044,p.A144T|ENST00000553304,p.A86T|ENST00000318445,p.A144T|uc002bqx.2,p.A144T|NM_013272,p.A144T|uc002bqy.2,p.A144T|uc002bqz.1,p.A86T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bqz.1	nonsynonymous SNV	exon3	c.G256A	p.A86T	QYKYEAGEIRWGAEGRDVCAANGSG	QYKYEAGEIRWGTEGRDVCAANGSG	8.0	1.0	unscreened	-	2098_15:92459472-92459472 G>A_QYKYEAGEIRWGTEGRDVCAANGSG
7:132192531-132192531 G>A	0.0	2098	MELANOMA	-	-	-	-	PLXNA4	ENST00000378539,p.R308C|uc003vrb.3,p.R308C|uc003vra.4,p.R308C|ENST00000423507,p.R308C|uc003vrc.2,p.R308C|ENST00000321063,p.R308C|NM_001105543,p.R308C|NM_020911,p.R308C|NM_181775,p.R308C|ENST00000359827,p.R308C	retained_intron, protein_coding	uc003vrc.2	nonsynonymous SNV	exon2	c.C922T	p.R308C	VPIGCERSGVEYRLLQAAYLSKAGA	VPIGCERSGVEYCLLQAAYLSKAGA	1.0	2.0	unscreened	-	2098_7:132192531-132192531 G>A_VPIGCERSGVEYCLLQAAYLSKAGA
6:42071590-42071590 C>T	0.0	2098	MELANOMA	-	-	-	-	C6orf132	uc003orw.2,p.G1159E|ENST00000341865,p.G1159E|NM_001164446,p.G1159E	protein_coding	uc003orw.2	nonsynonymous SNV	exon5	c.G3476A	p.G1159E	AAGRSPYTTTRYGSPINTFTVRPGT	AAGRSPYTTTRYESPINTFTVRPGT	1.0	2.0	unscreened	-	2098_6:42071590-42071590 C>T_AAGRSPYTTTRYESPINTFTVRPGT
1:215848457-215848457 G>A	0.0	2098	MELANOMA	-	-	-	-	USH2A	ENST00000366943,p.L4266F|NM_206933,p.L4266F|uc001hku.1,p.L4266F|ENST00000307340,p.L4266F	retained_intron, protein_coding	uc001hku.1	nonsynonymous SNV	exon63	c.C12796T	p.L4266F	NVVRTLQAPPEGLSPPVISYVSMNP	NVVRTLQAPPEGFSPPVISYVSMNP	1.0	3.0	unscreened	-	2098_1:215848457-215848457 G>A_NVVRTLQAPPEGFSPPVISYVSMNP
15:50535188-50535188 T>A	0.0	2098	MELANOMA	-	-	-	-	HDC	ENST00000543581,p.T387S|uc001zxy.3,p.T163S|uc010uff.2,p.T387S|NM_002112,p.T420S|ENST00000267845,p.T420S|uc001zxz.3,p.T420S	retained_intron, protein_coding	uc010uff.2	nonsynonymous SNV	exon11	c.A1159T	p.T387S	LVVFRLKGPNCLTENVLKEIAKAGR	LVVFRLKGPNCLSENVLKEIAKAGR	1.0	1.0	unscreened	-	2098_15:50535188-50535188 T>A_LVVFRLKGPNCLSENVLKEIAKAGR
1:109734372-109734372 C>T	0.0	2098	MELANOMA	-	-	-	-	KIAA1324	uc031pnl.1,p.P186S|uc001dwr.3,p.P174S|NM_020775,p.P524S|NM_001284352,p.P422S|uc021orb.1,p.P524S|NM_001267048,p.P437S|uc009wex.2,p.P474S|NM_001284353,p.P186S|ENST00000529753,p.P437S|ENST00000457623,p.P474S|ENST00000369939,p.P524S|uc010ovg.3,p.P422S|uc009wey.3,p.P437S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pnl.1	nonsynonymous SNV	exon6	c.C556T	p.P186S	YFMVGVNSRTNTPVETWKGSKGKQS	YFMVGVNSRTNTSVETWKGSKGKQS	3.0	10.0	unscreened	-	2098_1:109734372-109734372 C>T_YFMVGVNSRTNTSVETWKGSKGKQS
2:179640923-179640923 G>A	0.0	2098	MELANOMA	-	-	ID=COSM228331,COSM228332,COSM228330,COSM228334,COSM228333;OCCURENCE=1(skin)	-	TTN	ENST00000342992,p.R1890C|NM_003319,p.R1844C|NM_133432,p.R1844C|NM_001267550,p.R1890C|uc021vtb.2,p.R1844C|uc021vta.2,p.R1844C|NM_001256850,p.R1890C|uc031rqc.1,p.R1890C|ENST00000460472,p.R1844C|uc021vsz.2,p.R1844C|NM_133437,p.R1844C|uc002unb.3,p.R1890C|uc021vsy.2,p.R1890C|ENST00000360870,p.R1890C|uc031rqd.1,p.R1890C|ENST00000589042,p.R1890C|ENST00000359218,p.R1844C|ENST00000591111,p.R1890C|NM_133378,p.R1890C|ENST00000342175,p.R1844C|NM_133379,p.R1890C	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon28	c.C5668T	p.R1890C	GQLIRKSKRFRVRYDGIHYLDIVDC	GQLIRKSKRFRVCYDGIHYLDIVDC	2.0	6.0	unscreened	-	2098_2:179640923-179640923 G>A_GQLIRKSKRFRVCYDGIHYLDIVDC
7:141885825-141885825 C>T	0.0	2098	MELANOMA	-	-	-	-	LOC93432	ENST00000477922,p.R1342C|NM_001293626,p.R1342C	retained_intron, protein_coding	NM_001293626	nonsynonymous SNV	exon35	c.C4024T	p.R1342C	LYRAYVAFPDFFRNSTAAWWKKEIE	LYRAYVAFPDFFCNSTAAWWKKEIE	1.0	10.0	unscreened	-	2098_7:141885825-141885825 C>T_LYRAYVAFPDFFCNSTAAWWKKEIE
1:10435355-10435355 C>T	1.0	2098	MELANOMA	-	-	-	-	KIF1B	uc001aqy.3,p.L1752F|ENST00000377081,p.L1778F|uc001arb.3,p.L1764F|NM_015074,p.L1732F|ENST00000377086,p.L1778F|uc001ara.3,p.L1738F|uc001aqx.4,p.L1778F|ENST00000263934,p.L1732F|uc001aqz.3,p.L1778F|uc001aqw.4,p.L1732F	retained_intron, protein_coding, processed_transcript	uc001arb.3	nonsynonymous SNV	exon46	c.C5290T	p.L1764F	NTFAVCTKHRGVLLQALNDKDMNDW	NTFAVCTKHRGVFLQALNDKDMNDW	7.0	10.0	unscreened	-	2098_1:10435355-10435355 C>T_NTFAVCTKHRGVFLQALNDKDMNDW
13:29608217-29608217 G>A	0.0	2098	MELANOMA	-	-	-	-	MTUS2	ENST00000431530,p.G811R|NM_001033602,p.G811R|uc001usl.4,p.G811R	retained_intron, protein_coding, processed_transcript	uc001usl.4	nonsynonymous SNV	exon2	c.G2431A	p.G811R	SQRSSASAIHPPGPITTATSLYSSD	SQRSSASAIHPPRPITTATSLYSSD	1.0	10.0	unscreened	-	2098_13:29608217-29608217 G>A_SQRSSASAIHPPRPITTATSLYSSD
3:183898971-183898971 A>T	1.0	2098	MELANOMA	-	-	-	-	AP2M1	ENST00000411763,p.I247F|uc011bqz.2,p.I38F|uc003fmw.3,p.I220F|ENST00000292807,p.I222F|uc031scq.1,p.I92F|NM_001025205,p.I220F|ENST00000382456,p.I220F|uc021xig.1,p.I222F|uc011bqy.2,p.I92F|ENST00000439647,p.I220F	retained_intron, protein_coding, processed_transcript	uc031scq.1	nonsynonymous SNV	exon3	c.A274T	p.I92F	PECKFGMNDKIVIEKQGKGTADETS	PECKFGMNDKIVFEKQGKGTADETS	10.0	5.0	unscreened	-	2098_3:183898971-183898971 A>T_PECKFGMNDKIVFEKQGKGTADETS
7:94055323-94055323 C>T	1.0	2098	MELANOMA	-	-	-	-	COL1A2	uc003ung.1,p.P986L|ENST00000297268,p.P986L|NM_000089,p.P986L	retained_intron, protein_coding	uc003ung.1	nonsynonymous SNV	exon45	c.C2957T	p.P986L	KHGNRGETGPSGPVGPAGAVGPRGP	KHGNRGETGPSGLVGPAGAVGPRGP	4.0	9.0	unscreened	-	2098_7:94055323-94055323 C>T_KHGNRGETGPSGLVGPAGAVGPRGP
1:32265621-32265621 G>A	0.0	2098	MELANOMA	-	-	-	-	SPOCD1	uc001btu.3,p.S575F|uc001btv.3,p.S68F|ENST00000533231,p.S575F|NM_001281987,p.S575F|ENST00000360482,p.S575F|ENST00000257100,p.S68F|uc001bts.1,p.S575F|ENST00000528791,p.S68F|NM_001281988,p.S68F|ENST00000373648,p.S516F|NM_144569,p.S575F	retained_intron, protein_coding	uc001btv.3	nonsynonymous SNV	exon4	c.C203T	p.S68F	LALGDPSSDPACSQSGPMEAEEDSL	LALGDPSSDPACFQSGPMEAEEDSL	5.0	10.0	unscreened	-	2098_1:32265621-32265621 G>A_LALGDPSSDPACFQSGPMEAEEDSL
2:31337687-31337687 T>C	0.0	2098	MELANOMA	-	-	-	-	GALNT14	NM_001253826,p.H79R|uc002rns.3,p.H79R|ENST00000324589,p.H79R	protein_coding, processed_transcript, nonsense_mediated_decay	uc002rns.3	nonsynonymous SNV	exon3	c.A236G	p.H79R	PPYQRGHLPTGGHLAVCHFPCLLQE	PPYQRGHLPTGGRLAVCHFPCLLQE	1.0	8.0	unscreened	-	2098_2:31337687-31337687 T>C_PPYQRGHLPTGGRLAVCHFPCLLQE
4:83276492-83276492 A>G	1.0	2098	MELANOMA	-	-	-	-	HNRNPD	uc003hmo.1,p.Y306H|uc003hmp.1,p.Y287H|uc011cci.1,p.Y201H|NM_031369,p.Y336H|NM_001003810,p.Y287H|uc003hmm.1,p.Y355H|uc010ijr.1,p.Y336H|NM_031370,p.Y355H|ENST00000353341,p.Y306H|NM_002138,p.Y306H|ENST00000543098,p.Y303H|ENST00000541060,p.Y201H|ENST00000313899,p.Y355H|ENST00000352301,p.Y336H|uc003hmn.1,p.Y336H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cci.1	nonsynonymous SNV	exon6	c.T601C	p.Y201H	SRRGGHQNSYKPY	SRRGGHQNSYKPH	10.0	1.0	unscreened	-	2098_4:83276492-83276492 A>G_SRRGGHQNSYKPH
12:1988151-1988151 C>T	0.0	2098	MELANOMA	-	-	-	-	CACNA2D4	ENST00000586184,p.E539K|ENST00000585732,p.E424K|NM_172364,p.E539K|ENST00000382722,p.E539K|uc021qsx.1,p.E539K|uc009zdt.1,p.E427K|ENST00000585708,p.E475K|ENST00000588077,p.E475K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qsx.1	nonsynonymous SNV	exon15	c.G1615A	p.E539K	LLGVVGSDVALRELMKLAPRYKLGV	LLGVVGSDVALRKLMKLAPRYKLGV	7.0	5.0	unscreened	-	2098_12:1988151-1988151 C>T_LLGVVGSDVALRKLMKLAPRYKLGV
1:66067272-66067272 G>A	1.0	2098	MELANOMA	-	-	-	-	LEPR	ENST00000371058,p.E398K|NM_001198687,p.E398K|uc021ool.1,p.E398K|ENST00000371059,p.E398K|uc001dch.3,p.E398K|NM_001003680,p.E398K|uc001dcg.3,p.E398K|ENST00000371060,p.E398K|uc001dcj.3,p.E398K|NM_001198689,p.E398K|NM_001198688,p.E398K|ENST00000344610,p.E398K|NM_002303,p.E398K|uc001dci.3,p.E398K|ENST00000349533,p.E398K|uc001dck.3,p.E398K|NM_001003679,p.E398K	protein_coding, processed_transcript	uc021ool.1	nonsynonymous SNV	exon8	c.G1192A	p.E398K	DHVSKVTFFNLNETKPRGKFTYDAV	DHVSKVTFFNLNKTKPRGKFTYDAV	6.0	10.0	unscreened	-	2098_1:66067272-66067272 G>A_DHVSKVTFFNLNKTKPRGKFTYDAV
5:140222485-140222485 G>A	0.0	2098	MELANOMA	-	-	-	-	PCDHA8	ENST00000531613,p.E527K|uc003lhs.2,p.E527K|NM_018911,p.E527K|uc003lhr.1,p.E527K|NM_031856,p.E527K|ENST00000378123,p.E527K	protein_coding	uc003lhs.2	nonsynonymous SNV	exon1	c.G1579A	p.E527K	GKVYALQPLDHEELELLQFQVSARD	GKVYALQPLDHEKLELLQFQVSARD	4.0	5.0	unscreened	-	2098_5:140222485-140222485 G>A_GKVYALQPLDHEKLELLQFQVSARD
5:156926657-156926657 G>A	1.0	2098	MELANOMA	-	-	-	-	ADAM19	ENST00000517905,p.P441L|uc003lwz.4,p.P441L|uc003lwy.3,p.P40L|NM_033274,p.P441L|ENST00000257527,p.P441L|ENST00000430702,p.P174L|uc011ddr.1,p.P372L|uc003lww.3,p.P174L|ENST00000394020,p.P443L	retained_intron, protein_coding, nonsense_mediated_decay	uc011ddr.1	nonsynonymous SNV	exon13	c.C1115T	p.P372L	ECDCGEEEECNNPCCNASNCTLRPG	ECDCGEEEECNNLCCNASNCTLRPG	9.0	2.0	unscreened	-	2098_5:156926657-156926657 G>A_ECDCGEEEECNNLCCNASNCTLRPG
8:106431443-106431443 G>A	0.0	2098	MELANOMA	-	-	-	-	ZFPM2	uc003ymd.3,p.G38R|NM_012082,p.G38R|ENST00000407775,p.G38R	protein_coding, processed_transcript	uc003ymd.3	nonsynonymous SNV	exon2	c.G112A	p.G38R	ECPSEETDIISKGDFPLEESFSTEF	ECPSEETDIISKRDFPLEESFSTEF	4.0	10.0	unscreened	-	2098_8:106431443-106431443 G>A_ECPSEETDIISKRDFPLEESFSTEF
9:34726204-34726204 G>A	0.0	2098	MELANOMA	0.19	rs521574	ID=COSM3952674,COSM3952675;OCCURENCE=1(lung),2(thyroid)	-	FAM205A	NM_001141917,p.P345S|ENST00000378788,p.P345S|uc011lor.2,p.P345S	protein_coding	uc011lor.2	nonsynonymous SNV	exon4	c.C1033T	p.P345S	NDQPVSFNLKNTPQVSLHRFETISL	NDQPVSFNLKNTSQVSLHRFETISL	1.0	10.0	unscreened	-	2098_9:34726204-34726204 G>A_NDQPVSFNLKNTSQVSLHRFETISL
12:1988151-1988151 C>T	0.0	2098	MELANOMA	-	-	-	-	CACNA2D4	ENST00000587995,p.E539K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000587995	nonsynonymous SNV	exon15	c.G1615A	p.E539K	LLGVVGSDVALRELMKLAPRYKYRE	LLGVVGSDVALRKLMKLAPRYKYRE	7.0	5.0	unscreened	-	2098_12:1988151-1988151 C>T_LLGVVGSDVALRKLMKLAPRYKYRE
X:46360705-46360705 C>T	0.0	2098	MELANOMA	-	-	-	-	ZNF674	ENST00000523374,p.A107T|uc022bvl.1,p.A102T|ENST00000414387,p.A101T|NM_001039891,p.A107T|NM_001146291,p.A101T|uc004dgr.3,p.A107T|NM_001190417,p.A102T|uc011mlg.2,p.A101T	retained_intron, protein_coding, processed_transcript	uc022bvl.1	nonsynonymous SNV	exon6	c.G304A	p.A102T	HYKESQDKFLWQAAFIGKETLKDES	HYKESQDKFLWQTAFIGKETLKDES	5.0	7.0	unscreened	-	2098_X:46360705-46360705 C>T_HYKESQDKFLWQTAFIGKETLKDES
19:57642499-57642499 C>T	0.0	2098	MELANOMA	-	-	-	-	USP29	uc002qny.3,p.P819L|ENST00000598197,p.P819L|NM_020903,p.P819L|uc021vci.1,p.P819L|ENST00000254181,p.P819L	protein_coding	uc021vci.1	nonsynonymous SNV	exon1	c.C2456T	p.P819L	AKELTRNVKMGDPLQAYRLISVVSH	AKELTRNVKMGDLLQAYRLISVVSH	1.0	5.0	unscreened	-	2098_19:57642499-57642499 C>T_AKELTRNVKMGDLLQAYRLISVVSH
12:1988151-1988151 C>T	0.0	2098	MELANOMA	-	-	-	-	CACNA2D4	ENST00000444595,p.E539K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000444595	nonsynonymous SNV	exon15	c.G1615A	p.E539K	LLGVVGSDVALRELMKLAPRYKMPS	LLGVVGSDVALRKLMKLAPRYKMPS	7.0	5.0	unscreened	-	2098_12:1988151-1988151 C>T_LLGVVGSDVALRKLMKLAPRYKMPS
19:4037673-4037673 G>A	0.0	2098	MELANOMA	-	-	-	-	PIAS4	ENST00000262971,p.G445S|NM_015897,p.G445S|uc002lzg.3,p.G445S	retained_intron, protein_coding, processed_transcript	uc002lzg.3	nonsynonymous SNV	exon11	c.G1333A	p.G445S	LPAPSVNGSGALGSTGGGGPVGSME	LPAPSVNGSGALSSTGGGGPVGSME	7.0	1.0	unscreened	-	2098_19:4037673-4037673 G>A_LPAPSVNGSGALSSTGGGGPVGSME
6:27277083-27277083 C>T	0.0	2098	MELANOMA	-	-	-	-	POM121L2	ENST00000377451,p.G892E|uc011dku.1,p.G956E|ENST00000444565,p.G956E|NM_033482,p.G956E	protein_coding	uc011dku.1	nonsynonymous SNV	exon1	c.G2867A	p.G956E	EGLPSHRTAFSLGRGSISARKTMAP	EGLPSHRTAFSLERGSISARKTMAP	1.0	10.0	unscreened	-	2098_6:27277083-27277083 C>T_EGLPSHRTAFSLERGSISARKTMAP
22:51043013-51043013 C>T	0.0	2098	MELANOMA	-	-	-	-	MAPK8IP2	ENST00000399912,p.P163L|ENST00000329492,p.P428L|ENST00000399908,p.P163L	protein_coding	ENST00000399912	nonsynonymous SNV	exon5	c.C488T	p.P163L	PPPPAPAAPRPGPAQPGPCLFLSNP	PPPPAPAAPRPGLAQPGPCLFLSNP	4.0	3.0	unscreened	-	2098_22:51043013-51043013 C>T_PPPPAPAAPRPGLAQPGPCLFLSNP
7:116960743-116960743 C>G	0.0	2098	MELANOMA	-	-	-	-	WNT2	NM_003391,p.R63P|uc003viz.3,p.R63P|ENST00000491214,p.R63P|ENST00000265441,p.R63P|ENST00000449446,p.R63P	retained_intron, protein_coding, nonsense_mediated_decay	uc003viz.3	nonsynonymous SNV	exon2	c.G188C	p.R63P	QRQLCHRHPDVMRAISQGVAEWTAE	QRQLCHRHPDVMPAISQGVAEWTAE	1.0	3.0	unscreened	-	2098_7:116960743-116960743 C>G_QRQLCHRHPDVMPAISQGVAEWTAE
15:53908374-53908374 C>A	0.0	2098	MELANOMA	-	-	-	-	WDR72	NM_182758,p.V677F|ENST00000396328,p.V677F|uc031qse.1,p.V677F|ENST00000559418,p.V687F|ENST00000360509,p.V677F|uc002acj.2,p.V677F|ENST00000560036,p.V677F|ENST00000557913,p.V674F|uc010bfi.1,p.V677F	protein_coding, processed_transcript	uc031qse.1	nonsynonymous SNV	exon15	c.G2029T	p.V677F	FNVLPVKTKWSNVGFHILLFDLENL	FNVLPVKTKWSNFGFHILLFDLENL	2.0	3.0	unscreened	-	2098_15:53908374-53908374 C>A_FNVLPVKTKWSNFGFHILLFDLENL
1:175355337-175355337 C>G	0.0	2098	MELANOMA	-	-	-	-	TNR	NM_003285,p.L536F|ENST00000367674,p.L536F|uc009wwu.1,p.L536F|uc001gkp.1,p.L536F|ENST00000263525,p.L536F	protein_coding	uc009wwu.1	nonsynonymous SNV	exon8	c.G1608C	p.L536F	WIPPRAKVDFILLKYGLVGGEGGRT	WIPPRAKVDFILFKYGLVGGEGGRT	1.0	3.0	unscreened	-	2098_1:175355337-175355337 C>G_WIPPRAKVDFILFKYGLVGGEGGRT
11:78380750-78380750 G>A	0.0	2098	MELANOMA	-	-	-	-	TENM4	uc001ozl.4,p.R2214C|uc001ozk.4,p.R439C|ENST00000530738,p.R678C|NM_001098816,p.R2214C|ENST00000278550,p.R2214C	retained_intron, protein_coding, processed_transcript	uc001ozl.4	nonsynonymous SNV	exon32	c.C6640T	p.R2214C	LQTVSINDKPLWRYSYDLNGNLHLL	LQTVSINDKPLWCYSYDLNGNLHLL	4.0	2.0	unscreened	-	2098_11:78380750-78380750 G>A_LQTVSINDKPLWCYSYDLNGNLHLL
12:56868878-56868878 C>T	0.0	2098	MELANOMA	-	-	-	-	GLS2	uc021qzb.1,p.E279K|ENST00000311966,p.E316K|NM_013267,p.E316K|uc021qzd.1,p.E51K|NM_001280797,p.E51K|NM_001280798,p.E51K|uc001slk.3,p.E51K|uc001slj.3,p.E316K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qzd.1	nonsynonymous SNV	exon8	c.G151A	p.E51K	MGFSNATFQSEKETGDRNYAIGYYL	MGFSNATFQSEKKTGDRNYAIGYYL	4.0	9.0	unscreened	-	2098_12:56868878-56868878 C>T_MGFSNATFQSEKKTGDRNYAIGYYL
12:56868878-56868878 C>T	0.0	2098	MELANOMA	-	-	-	-	GLS2	NM_001280796,p.E40K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	NM_001280796	nonsynonymous SNV	exon10	c.G118A	p.E40K	KLGVCFRFQSEKETGDRNYAIGYYL	KLGVCFRFQSEKKTGDRNYAIGYYL	4.0	9.0	unscreened	-	2098_12:56868878-56868878 C>T_KLGVCFRFQSEKKTGDRNYAIGYYL
3:100949903-100949903 G>T	0.0	2098	MELANOMA	-	-	-	-	IMPG2	uc011bhe.2,p.A970D|uc003duq.2,p.A1107D|ENST00000193391,p.A1107D|NM_016247,p.A1107D	protein_coding	uc011bhe.2	nonsynonymous SNV	exon15	c.C2909A	p.A970D	FVSEPVIIGITIASVVGLLVIFSAI	FVSEPVIIGITIDSVVGLLVIFSAI	2.0	4.0	unscreened	-	2098_3:100949903-100949903 G>T_FVSEPVIIGITIDSVVGLLVIFSAI
1:67306341-67306341 T>A	0.0	2098	MELANOMA	-	-	-	-	WDR78	ENST00000371023,p.E435D|ENST00000431318,p.E181D|ENST00000371026,p.E435D|ENST00000464352,p.E201D|uc009waw.3,p.E181D|NM_024763,p.E435D|uc001dcx.3,p.E435D|uc001dcy.3,p.E435D|NM_207014,p.E435D	protein_coding, processed_transcript, nonsense_mediated_decay	uc009waw.3	nonsynonymous SNV	exon5	c.A543T	p.E181D	YRQLPVLKEPEPEEPEDVLESAKHE	YRQLPVLKEPEPDEPEDVLESAKHE	3.0	10.0	unscreened	-	2098_1:67306341-67306341 T>A_YRQLPVLKEPEPDEPEDVLESAKHE
1:118534109-118534109 C>T	0.0	2098	MELANOMA	-	-	-	-	SPAG17	ENST00000336338,p.E1802K|ENST00000437255,p.E282K|uc021osr.1,p.E312K|NM_206996,p.E1802K|uc001ehk.2,p.E1802K	protein_coding, processed_transcript	uc021osr.1	nonsynonymous SNV	exon7	c.G934A	p.E312K	INYILKKEDELQEMMVKDSRTEEER	INYILKKEDELQKMMVKDSRTEEER	3.0	10.0	unscreened	-	2098_1:118534109-118534109 C>T_INYILKKEDELQKMMVKDSRTEEER
1:67306341-67306341 T>A	0.0	2098	MELANOMA	-	-	-	-	WDR78	ENST00000531552,p.E57D	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000531552	nonsynonymous SNV	exon2	c.A171T	p.E57D	LPGSTTEKKPEPEEPEDVLESAKHE	LPGSTTEKKPEPDEPEDVLESAKHE	3.0	10.0	unscreened	-	2098_1:67306341-67306341 T>A_LPGSTTEKKPEPDEPEDVLESAKHE
1:20998542-20998542 C>T	0.0	2098	MELANOMA	-	-	-	-	KIF17	uc001bdr.4,p.D871N|NM_020816,p.D871N|ENST00000400463,p.D871N|ENST00000247986,p.D871N|NM_001122819,p.D871N|ENST00000375044,p.D771N|NM_001287212,p.D771N|uc001bds.4,p.D871N|uc009vpx.3,p.D241N|uc001bdp.4,p.D149N	protein_coding, processed_transcript	uc009vpx.3	nonsynonymous SNV	exon6	c.G721A	p.D241N	QLLEQVQPLIRRDCNYSNLEKILRE	QLLEQVQPLIRRNCNYSNLEKILRE	2.0	10.0	unscreened	-	2098_1:20998542-20998542 C>T_QLLEQVQPLIRRNCNYSNLEKILRE
2:179600258-179600258 G>A	0.0	2098	MELANOMA	-	-	-	-	TTN	ENST00000591111,p.S4655L|NM_001256850,p.S4655L|NM_133378,p.S3728L|ENST00000342992,p.S3728L|uc031rqd.1,p.S4655L|uc002umz.1,p.S389L|NM_001267550,p.S4972L|uc031rqc.1,p.S4972L|ENST00000589042,p.S4972L|uc021vsy.2,p.S3728L	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon48	c.C13964T	p.S4655L	CTASNEAGSSSCSATVTVREPPSFV	CTASNEAGSSSCLATVTVREPPSFV	2.0	8.0	unscreened	-	2098_2:179600258-179600258 G>A_CTASNEAGSSSCLATVTVREPPSFV
22:24837209-24837209 G>A	0.0	2098	MELANOMA	-	-	-	-	ADORA2A	uc011ajs.2,p.G192R|uc010gup.3,p.G331R|uc003aab.3,p.G331R|ENST00000444262,p.G331R|NM_001278498,p.G331R|NM_001278497,p.G331R|NM_001278500,p.G331R|uc002zzx.3,p.G331R|NM_000675,p.G331R|uc010guq.3,p.G331R|uc002zzy.4,p.G331R|ENST00000337539,p.G331R|NM_001278499,p.G331R	protein_coding, processed_transcript	uc011ajs.2	nonsynonymous SNV	exon2	c.G574A	p.G192R	TSARVLAAHGSDGEQVSLRLNGHPP	TSARVLAAHGSDREQVSLRLNGHPP	4.0	5.0	unscreened	-	2098_22:24837209-24837209 G>A_TSARVLAAHGSDREQVSLRLNGHPP
3:51251655-51251655 G>A	0.0	2098	MELANOMA	-	-	-	-	DOCK3	NM_004947,p.G410E|ENST00000266037,p.G410E|uc011bds.2,p.G410E	protein_coding	uc011bds.2	nonsynonymous SNV	exon14	c.G1229A	p.G410E	IFNRGLAITRKLGFPDVIMPGDIRN	IFNRGLAITRKLEFPDVIMPGDIRN	5.0	7.0	unscreened	-	2098_3:51251655-51251655 G>A_IFNRGLAITRKLEFPDVIMPGDIRN
19:56953705-56953705 C>A	0.0	2098	MELANOMA	-	-	-	-	ZNF667	ENST00000342634,p.R348I|uc010etm.3,p.R163I|NM_022103,p.R220I|ENST00000292069,p.R220I|uc002qnd.3,p.R220I|ENST00000504904,p.R220I|uc002qne.3,p.R220I	protein_coding, processed_transcript, nonsense_mediated_decay	uc010etm.3	nonsynonymous SNV	exon6	c.G488T	p.R163I	SFNQRTTLILHMRIHDGKEILDCGK	SFNQRTTLILHMIIHDGKEILDCGK	1.0	1.0	unscreened	-	2098_19:56953705-56953705 C>A_SFNQRTTLILHMIIHDGKEILDCGK
7:40228099-40228099 G>A	0.0	2098	MELANOMA	-	-	-	-	SUGCT	ENST00000335693,p.G85S|ENST00000401647,p.G85S|uc003thn.2,p.G85S|NM_001193311,p.G85S|ENST00000309930,p.G85S|NM_001193313,p.G85S|ENST00000540834,p.G78S|NM_024728,p.G85S|uc022acd.1,p.G85S|uc003tho.2,p.G85S|NM_001193312,p.G85S	protein_coding, processed_transcript, nonsense_mediated_decay	uc022acd.1	nonsynonymous SNV	exon4	c.G253A	p.G85S	GAEVIKVERPGAGDDTRTWGPPFVG	GAEVIKVERPGASDDTRTWGPPFVG	6.0	9.0	unscreened	-	2098_7:40228099-40228099 G>A_GAEVIKVERPGASDDTRTWGPPFVG
4:190881949-190881949 C>A	1.0	2098	MELANOMA	-	-	-	-	FRG1	ENST00000507103,p.P16Q|ENST00000226798,p.P195Q|uc003izs.3,p.P195Q|NM_004477,p.P195Q|ENST00000524583,p.P67Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc003izs.3	nonsynonymous SNV	exon7	c.C584A	p.P195Q	CAERETKKKDDIPEEDKGNVKQCEI	CAERETKKKDDIQEEDKGNVKQCEI	9.0	1.0	unscreened	-	2098_4:190881949-190881949 C>A_CAERETKKKDDIQEEDKGNVKQCEI
2:71887777-71887777 G>A	0.0	2098	MELANOMA	-	-	-	-	DYSF	uc010fem.3,p.G1650R|ENST00000394120,p.G1629R|uc010fen.3,p.G1667R|NM_001130980,p.G1645R|NM_001130981,p.G1666R|NM_001130455,p.G1629R|uc010fef.3,p.G1666R|NM_001130986,p.G1615R|uc002sig.4,p.G1614R|NM_001130984,p.G1636R|NM_001130982,p.G1660R|NM_001130976,p.G1614R|ENST00000409744,p.G1636R|ENST00000429174,p.G1649R|uc002sie.3,p.G1628R|uc010yqy.2,p.G509R|ENST00000258104,p.G1628R|uc010fek.3,p.G1646R|uc010fej.3,p.G1636R|NM_001130979,p.G1659R|NM_001130978,p.G1649R|uc010feh.3,p.G1635R|ENST00000409582,p.G1666R|uc002sif.3,p.G1629R|uc010feo.3,p.G1660R|uc010fee.3,p.G1649R|uc010feg.3,p.G1659R|ENST00000409366,p.G1650R|uc010fel.3,p.G1615R|NM_001130985,p.G1646R|ENST00000409762,p.G1645R|uc010fei.3,p.G1645R|ENST00000410020,p.G1667R|ENST00000409651,p.G1660R|ENST00000413539,p.G1659R|uc010yqz.2,p.G389R|NM_003494,p.G1628R|NM_001130977,p.G1635R|NM_001130983,p.G1650R|ENST00000410041,p.G1646R|NM_001130987,p.G1667R	protein_coding, processed_transcript	uc010yqz.2	nonsynonymous SNV	exon11	c.G1165A	p.G389R	DNYIPCTLEPVFGKMFELTCTLPLE	DNYIPCTLEPVFRKMFELTCTLPLE	3.0	5.0	unscreened	-	2098_2:71887777-71887777 G>A_DNYIPCTLEPVFRKMFELTCTLPLE
5:176520524-176520524 G>A	0.0	2098	MELANOMA	-	-	-	1	FGFR4	ENST00000292408,p.D457N|ENST00000393637,p.D417N|uc003mfo.3,p.D417N|NM_213647,p.D457N|ENST00000292410,p.D417N|NM_022963,p.D417N|uc003mfm.3,p.D457N|uc003mfl.3,p.D457N|ENST00000502906,p.D457N|NM_002011,p.D457N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003mfo.3	nonsynonymous SNV	exon8	c.G1249A	p.D417N	LLAGLVSLDLPLDPLWEFPRDRLVL	LLAGLVSLDLPLNPLWEFPRDRLVL	5.0	2.0	unscreened	-	2098_5:176520524-176520524 G>A_LLAGLVSLDLPLNPLWEFPRDRLVL
1:67306340-67306340 C>T	0.0	2098	MELANOMA	-	-	-	-	WDR78	ENST00000371023,p.E436K|uc009waw.3,p.E182K|uc001dcx.3,p.E436K|NM_207014,p.E436K|NM_024763,p.E436K|ENST00000431318,p.E182K|ENST00000371026,p.E436K|ENST00000464352,p.E202K|uc001dcy.3,p.E436K	protein_coding, processed_transcript, nonsense_mediated_decay	uc009waw.3	nonsynonymous SNV	exon5	c.G544A	p.E182K	RQLPVLKEPEPEEPEDVLESAKHEE	RQLPVLKEPEPEKPEDVLESAKHEE	3.0	10.0	unscreened	-	2098_1:67306340-67306340 C>T_RQLPVLKEPEPEKPEDVLESAKHEE
3:178952085-178952085 A>G	1.0	2098	MELANOMA	-	-	ID=COSM94986,COSM775;OCCURENCE=249(large_intestine),2(prostate),2(kidney),9(liver),5(pancreas),30(urinary_tract),1(small_intestine),6(skin),1005(breast),125(endometrium),3(salivary_gland),83(ovary),7(soft_tissue),2(pituitary),8(gastrointestinal_tract_(site_indeterminate)),3(haematopoietic_and_lymphoid_tissue),3(cervix),2(meninges),15(lung),8(thyroid),4(oesophagus),8(NS),30(upper_aerodigestive_tract),19(central_nervous_system),22(stomach)	1	PIK3CA	NM_006218,p.H1047R|uc003fjk.3,p.H1047R|ENST00000263967,p.H1047R	retained_intron, protein_coding	uc003fjk.3	nonsynonymous SNV	exon21	c.A3140G	p.H1047R	ALEYFMKQMNDAHHGGWTTKMDWIF	ALEYFMKQMNDARHGGWTTKMDWIF	7.0	4.0	unscreened	-	2098_3:178952085-178952085 A>G_ALEYFMKQMNDARHGGWTTKMDWIF
1:67306340-67306340 C>T	0.0	2098	MELANOMA	-	-	-	-	WDR78	ENST00000531552,p.E58K	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000531552	nonsynonymous SNV	exon2	c.G172A	p.E58K	PGSTTEKKPEPEEPEDVLESAKHEE	PGSTTEKKPEPEKPEDVLESAKHEE	3.0	10.0	unscreened	-	2098_1:67306340-67306340 C>T_PGSTTEKKPEPEKPEDVLESAKHEE
12:55886552-55886552 A>G	0.0	2098	MELANOMA	-	-	-	-	OR6C68	uc031qhq.1,p.M131V|NM_001005519,p.M131V|ENST00000548615,p.M131V|ENST00000379662,p.M136V	protein_coding	uc031qhq.1	nonsynonymous SNV	exon1	c.A391G	p.M131V	DRYVAICKPLHYMAIMSNKVCKTMV	DRYVAICKPLHYVAIMSNKVCKTMV	1.0	6.0	unscreened	-	2098_12:55886552-55886552 A>G_DRYVAICKPLHYVAIMSNKVCKTMV
4:145041720-145041720 A>G	0.0	2098	MELANOMA	-	rs7682260	-	-	GYPA	ENST00000360771,p.L20S|uc031shj.1,p.L20S|NM_002099,p.L20S|uc003ijn.2,p.L20S|uc010ioq.3,p.L20S|ENST00000503627,p.L20S|uc010ios.2,p.L20S|uc003ijp.4,p.L20S|ENST00000504786,p.L20S|uc003ijo.4,p.L20S|ENST00000512064,p.L20S	retained_intron, protein_coding, nonsense_mediated_decay	uc031shj.1	nonsynonymous SNV	exon2	c.T59C	p.L20S	VLLLSEIVSISALSTTEVAMHTSTS	VLLLSEIVSISASSTTEVAMHTSTS	1.0	3.0	unscreened	-	2098_4:145041720-145041720 A>G_VLLLSEIVSISASSTTEVAMHTSTS
X:48214082-48214082 C>T	0.0	2098	MELANOMA	-	-	-	-	SSX3	ENST00000298396,p.A57T|uc004djd.1,p.A57T|uc004dje.3,p.A57T|uc010nic.3,p.A57T|ENST00000376893,p.A57T|NM_021014,p.A57T	protein_coding	uc010nic.3	nonsynonymous SNV	exon3	c.G169A	p.A57T	KIVYVYMKRKYEAMTKLGFKAILPS	KIVYVYMKRKYETMTKLGFKAILPS	1.0	4.0	unscreened	-	2098_X:48214082-48214082 C>T_KIVYVYMKRKYETMTKLGFKAILPS
17:39659015-39659015 G>A	0.0	2098	MELANOMA	-	-	-	-	KRT13	uc021txk.1,p.T209I|ENST00000587544,p.T316I|uc002hwv.1,p.T316I|ENST00000336861,p.T316I|NM_153490,p.T316I|uc010cxo.3,p.T316I|uc010wfr.2,p.T209I|NM_002274,p.T316I|uc002hwu.1,p.T316I|ENST00000246635,p.T316I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021txk.1	nonsynonymous SNV	exon6	c.C626T	p.T209I	NKEVSTNTAMIQTSKTEITELRRTL	NKEVSTNTAMIQISKTEITELRRTL	1.0	3.0	unscreened	-	2098_17:39659015-39659015 G>A_NKEVSTNTAMIQISKTEITELRRTL
2:228882449-228882449 C>T	0.0	2098	MELANOMA	-	-	-	-	SPHKAP	ENST00000392056,p.E1041K|uc002vpp.2,p.E1041K|uc002vpq.2,p.E1041K|uc010zlx.1,p.E1041K|NM_030623,p.E1041K|NM_001142644,p.E1041K|ENST00000344657,p.E1041K	retained_intron, protein_coding	uc010zlx.1	nonsynonymous SNV	exon7	c.G3121A	p.E1041K	EDVPDSVNLFANEVAAKIMNLTEFS	EDVPDSVNLFANKVAAKIMNLTEFS	1.0	8.0	unscreened	-	2098_2:228882449-228882449 C>T_EDVPDSVNLFANKVAAKIMNLTEFS
1:207684946-207684946 G>A	0.0	2098	MELANOMA	-	-	-	-	CR1	NM_000651,p.C145Y|uc009xcj.1,p.C145Y|uc001hfx.3,p.C145Y|ENST00000367049,p.C145Y|uc021pij.1,p.C145Y|ENST00000534202,p.C145Y|ENST00000400960,p.C145Y|ENST00000367051,p.C145Y|ENST00000367053,p.C145Y|uc009xck.1,p.C145Y|uc001hfy.3,p.C145Y|ENST00000367052,p.C145Y|NM_000573,p.C145Y|uc009xcl.1,p.C145Y	retained_intron, protein_coding, processed_transcript	uc021pij.1	nonsynonymous SNV	exon4	c.G434A	p.C145Y	KGYRLIGSSSATCIISGDTVIWDNE	KGYRLIGSSSATYIISGDTVIWDNE	1.0	6.0	unscreened	-	2098_1:207684946-207684946 G>A_KGYRLIGSSSATYIISGDTVIWDNE
10:26241092-26241092 C>T	0.0	2098	MELANOMA	-	-	-	-	MYO3A	ENST00000543632,p.S18F|uc001isn.2,p.S18F|uc009xkq.1,p.S18F|ENST00000376302,p.S18F|ENST00000376301,p.S18F|ENST00000265944,p.S18F|uc009xko.1,p.S18F|uc001ism.2,p.S18F|NM_017433,p.S18F	protein_coding, processed_transcript	uc009xkq.1	nonsynonymous SNV	exon2	c.C53T	p.S18F	GKTIIFDNFPDPSDTWEITETIGKG	GKTIIFDNFPDPFDTWEITETIGKG	1.0	8.0	unscreened	-	2098_10:26241092-26241092 C>T_GKTIIFDNFPDPFDTWEITETIGKG
2:97853128-97853128 A>C	0.0	2098	MELANOMA	-	-	-	-	ANKRD36	ENST00000461153,p.K711N|ENST00000420699,p.K711N|NM_001164315,p.K711N|uc010yva.2,p.K711N	retained_intron, protein_coding	uc010yva.2	nonsynonymous SNV	exon32	c.A2133C	p.K711N	VSNIATEIKDGEKSGTVSSQKQPAL	VSNIATEIKDGENSGTVSSQKQPAL	6.0	1.0	unscreened	-	2098_2:97853128-97853128 A>C_VSNIATEIKDGENSGTVSSQKQPAL
1:192153427-192153427 G>A	0.0	2098	MELANOMA	-	-	-	-	RGS18	uc001gsg.3,p.V151I|ENST00000367460,p.V151I|NM_130782,p.V151I	protein_coding, processed_transcript	uc001gsg.3	nonsynonymous SNV	exon5	c.G451A	p.V151I	YEKFIQTDAPKEVNLDFHTKEVITN	YEKFIQTDAPKEINLDFHTKEVITN	1.0	2.0	unscreened	-	2098_1:192153427-192153427 G>A_YEKFIQTDAPKEINLDFHTKEVITN
X:57620708-57620708 C>A	0.0	2098	MELANOMA	-	-	-	-	ZXDB	uc004dvd.3,p.L743I|ENST00000374888,p.L743I|NM_007157,p.L743I	protein_coding	uc004dvd.3	nonsynonymous SNV	exon1	c.C2227A	p.L743I	TVDTDALTPSSTLCENSVSELLTPT	TVDTDALTPSSTICENSVSELLTPT	5.0	3.0	unscreened	-	2098_X:57620708-57620708 C>A_TVDTDALTPSSTICENSVSELLTPT
17:37373426-37373426 C>T	0.0	2098	MELANOMA	-	-	-	-	STAC2	ENST00000333461,p.G133E|NM_198993,p.G133E|uc002hrs.3,p.G133E	protein_coding, nonsense_mediated_decay	uc002hrs.3	nonsynonymous SNV	exon3	c.G398A	p.G133E	ASPCELCHQLIVGNSKQGLRCKMCK	ASPCELCHQLIVENSKQGLRCKMCK	1.0	1.0	unscreened	-	2098_17:37373426-37373426 C>T_ASPCELCHQLIVENSKQGLRCKMCK
20:10273890-10273890 G>A	0.0	2098	MELANOMA	-	-	-	-	SNAP25	uc002wnq.2,p.G82E|uc002wns.2,p.G19E|ENST00000254976,p.G82E|NM_130811,p.G82E	protein_coding, processed_transcript	uc002wns.2	nonsynonymous SNV	exon6	c.G56A	p.G19E	DMKEAEKNLTDLGKFCGLCVCPCNK	DMKEAEKNLTDLEKFCGLCVCPCNK	1.0	7.0	unscreened	-	2098_20:10273890-10273890 G>A_DMKEAEKNLTDLEKFCGLCVCPCNK
X:153927773-153927773 G>A	0.0	2098	MELANOMA	-	-	-	-	GAB3	ENST00000369575,p.P380S|ENST00000424127,p.P381S|uc010nve.1,p.P381S|NM_001282283,p.P381S|ENST00000369568,p.P381S|uc004fmk.1,p.P381S|NM_001081573,p.P381S|NM_080612,p.P380S|uc004fmj.1,p.P380S	protein_coding, processed_transcript	uc010nve.1	nonsynonymous SNV	exon6	c.C1141T	p.P381S	KRLSLNLPCRFSPMYPTASASIEDS	KRLSLNLPCRFSSMYPTASASIEDS	3.0	6.0	unscreened	-	2098_X:153927773-153927773 G>A_KRLSLNLPCRFSSMYPTASASIEDS
2:99978085-99978085 A>G	1.0	2098	MELANOMA	-	-	-	-	EIF5B	uc002tab.3,p.K241E|NM_015904,p.K241E|ENST00000289371,p.K241E	retained_intron, protein_coding	uc002tab.3	nonsynonymous SNV	exon4	c.A721G	p.K241E	AQKKAEKKERERKKRDEEKAKLRKL	AQKKAEKKEREREKRDEEKAKLRKL	9.0	7.0	unscreened	-	2098_2:99978085-99978085 A>G_AQKKAEKKEREREKRDEEKAKLRKL
4:190881931-190881931 A>C	1.0	2098	MELANOMA	-	-	-	-	FRG1	ENST00000524583,p.K61T|NM_004477,p.K189T|uc003izs.3,p.K189T|ENST00000226798,p.K189T	protein_coding, processed_transcript, nonsense_mediated_decay	uc003izs.3	nonsynonymous SNV	exon7	c.A566C	p.K189T	MIKIRSCAERETKKKDDIPEEDKGN	MIKIRSCAERETTKKDDIPEEDKGN	9.0	1.0	unscreened	-	2098_4:190881931-190881931 A>C_MIKIRSCAERETTKKDDIPEEDKGN
17:37373426-37373426 C>T	0.0	2098	MELANOMA	-	-	-	-	STAC2	ENST00000584501,p.E66K	protein_coding, nonsense_mediated_decay	ENST00000584501	nonsynonymous SNV	exon3	c.G196A	p.E66K	LRSGSELKCPTEETPNRACDVRCAK	LRSGSELKCPTEKTPNRACDVRCAK	1.0	1.0	unscreened	-	2098_17:37373426-37373426 C>T_LRSGSELKCPTEKTPNRACDVRCAK
7:139756671-139756671 G>A	1.0	2098	MELANOMA	-	-	-	-	PARP12	ENST00000473341,p.P249S|ENST00000489809,p.P41S|NM_022750,p.P249S|uc003vvl.1,p.P249S|ENST00000263549,p.P249S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vvl.1	nonsynonymous SNV	exon3	c.C745T	p.P249S	SSAPSRVPPLFVPQGTSERKDSSGS	SSAPSRVPPLFVSQGTSERKDSSGS	9.0	9.0	unscreened	-	2098_7:139756671-139756671 G>A_SSAPSRVPPLFVSQGTSERKDSSGS
2:32660581-32660581 G>A	1.0	2098	MELANOMA	-	-	-	2	BIRC6	ENST00000421745,p.E1143K|uc010ezu.3,p.E1143K|NM_016252,p.E1143K	retained_intron, protein_coding, nonsense_mediated_decay	uc010ezu.3	nonsynonymous SNV	exon14	c.G3427A	p.E1143K	GLGKVNALNIEVEQNGKPSLVDLNE	GLGKVNALNIEVKQNGKPSLVDLNE	8.0	7.0	unscreened	-	2098_2:32660581-32660581 G>A_GLGKVNALNIEVKQNGKPSLVDLNE
5:176023828-176023828 G>A	0.0	2098	MELANOMA	-	-	-	-	GPRIN1	uc003meo.1,p.A1003V|uc021yif.1,p.A1003V|ENST00000303991,p.A1003V|NM_052899,p.A1003V	protein_coding	uc021yif.1	nonsynonymous SNV	exon1	c.C3008T	p.A1003V	LQSVRRPRCCSRAGPTAE	LQSVRRPRCCSRVGPTAE	5.0	1.0	unscreened	-	2098_5:176023828-176023828 G>A_LQSVRRPRCCSRVGPTAE
16:23417486-23417486 C>T	0.0	2098	MELANOMA	-	-	-	-	COG7	uc002dlo.3,p.A525T|ENST00000307149,p.A525T|NM_153603,p.A525T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dlo.3	nonsynonymous SNV	exon12	c.G1573A	p.A525T	FQESILTDKKNSAKNPWQEYNYLQK	FQESILTDKKNSTKNPWQEYNYLQK	7.0	3.0	unscreened	-	2098_16:23417486-23417486 C>T_FQESILTDKKNSTKNPWQEYNYLQK
2:179770209-179770209 C>T	0.0	2098	MELANOMA	-	-	-	-	CCDC141	ENST00000446116,p.R306K	protein_coding, processed_transcript	ENST00000446116	nonsynonymous SNV	exon7	c.G917A	p.R306K	LIIKAKAFDVLGRVEAYLKLLKSEG	LIIKAKAFDVLGKVEAYLKLLKSEG	1.0	5.0	unscreened	-	2098_2:179770209-179770209 C>T_LIIKAKAFDVLGKVEAYLKLLKSEG
2:179770209-179770209 C>T	0.0	2098	MELANOMA	-	-	-	-	CCDC141	uc002une.2,p.R371K|ENST00000409284,p.R371K|ENST00000443758,p.R371K|NM_173648,p.R371K|uc002ung.3,p.R371K|ENST00000420890,p.R371K	protein_coding, processed_transcript	uc002ung.3	nonsynonymous SNV	exon8	c.G1112A	p.R371K	FNSANKAFDVLGRVEAYLKLLKSEG	FNSANKAFDVLGKVEAYLKLLKSEG	1.0	5.0	unscreened	-	2098_2:179770209-179770209 C>T_FNSANKAFDVLGKVEAYLKLLKSEG
5:13841226-13841226 C>T	0.0	2098	MELANOMA	-	-	-	-	DNAH5	ENST00000265104,p.G1833E|NM_001369,p.G1833E|uc003jfd.2,p.G1833E	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon34	c.G5498A	p.G1833E	FLSSFPAQVGLLGIQMIWTRDSEEA	FLSSFPAQVGLLEIQMIWTRDSEEA	1.0	5.0	unscreened	-	2098_5:13841226-13841226 C>T_FLSSFPAQVGLLEIQMIWTRDSEEA
19:53770648-53770648 T>C	0.0	2098	MELANOMA	-	-	-	-	VN1R4	NM_173857,p.R91G|uc010ydu.2,p.R91G|ENST00000311170,p.R91G	protein_coding	uc010ydu.2	nonsynonymous SNV	exon1	c.A271G	p.R91G	GCKLVFYLHRVGRGVSIGTTCLLSV	GCKLVFYLHRVGGGVSIGTTCLLSV	1.0	8.0	unscreened	-	2098_19:53770648-53770648 T>C_GCKLVFYLHRVGGGVSIGTTCLLSV
12:43823466-43823466 A>G	0.0	2098	MELANOMA	-	-	-	-	ADAMTS20	NM_025003,p.V1148A|ENST00000389420,p.V1148A|uc001rnp.1,p.V302A|uc010skx.2,p.V1148A|ENST00000553158,p.V1148A	protein_coding	uc010skx.2	nonsynonymous SNV	exon24	c.T3443C	p.V1148A	FISKLETALLPTVLIKKMAQWRHGS	FISKLETALLPTALIKKMAQWRHGS	2.0	8.0	unscreened	-	2098_12:43823466-43823466 A>G_FISKLETALLPTALIKKMAQWRHGS
6:47649398-47649398 C>T	0.0	2098	MELANOMA	-	-	-	-	GPR111	ENST00000507065,p.A300V|uc003oyy.3,p.A300V|uc010jzj.1,p.A368V|ENST00000296862,p.A368V|ENST00000398742,p.A300V|ENST00000467205,p.A300V|NM_153839,p.A300V	protein_coding, nonsense_mediated_decay	uc010jzj.1	nonsynonymous SNV	exon6	c.C1103T	p.A368V	LENVTVNGLVLSAILPKELKRISLI	LENVTVNGLVLSVILPKELKRISLI	1.0	5.0	unscreened	-	2098_6:47649398-47649398 C>T_LENVTVNGLVLSVILPKELKRISLI
19:3157840-3157840 C>T	0.0	2098	MELANOMA	-	-	-	-	GNA15	ENST00000262958,p.P287S|uc002lxf.2,p.P287S|NM_002068,p.P287S	retained_intron, protein_coding, nonsense_mediated_decay	uc002lxf.2	nonsynonymous SNV	exon6	c.C859T	p.P287S	FLNKTDILEEKIPTSHLATYFPSFQ	FLNKTDILEEKISTSHLATYFPSFQ	1.0	8.0	unscreened	-	2098_19:3157840-3157840 C>T_FLNKTDILEEKISTSHLATYFPSFQ
X:57620709-57620709 T>C	0.0	2098	MELANOMA	-	-	-	-	ZXDB	NM_007157,p.L743P|ENST00000374888,p.L743P|uc004dvd.3,p.L743P	protein_coding	uc004dvd.3	nonsynonymous SNV	exon1	c.T2228C	p.L743P	TVDTDALTPSSTLCENSVSELLTPT	TVDTDALTPSSTPCENSVSELLTPT	5.0	3.0	unscreened	-	2098_X:57620709-57620709 T>C_TVDTDALTPSSTPCENSVSELLTPT
2:231152607-231152607 G>A	0.0	2098	MELANOMA	-	-	-	-	SP140	uc002vqm.3,p.G489E|ENST00000350136,p.G418E|ENST00000486687,p.G473E|uc002vqn.3,p.G435E|uc002vql.3,p.G549E|NM_001278451,p.G522E|ENST00000343805,p.G489E|NM_007237,p.G549E|ENST00000420434,p.G522E|NM_001278453,p.G435E|uc010fxl.3,p.G522E|NM_001278452,p.G489E|ENST00000417495,p.G435E|ENST00000392045,p.G549E	retained_intron, protein_coding, processed_transcript	uc010fxl.3	nonsynonymous SNV	exon17	c.G1565A	p.G522E	ANVNLKDLSKIRGRKRGKPGTRFTQ	ANVNLKDLSKIRERKRGKPGTRFTQ	3.0	9.0	unscreened	-	2098_2:231152607-231152607 G>A_ANVNLKDLSKIRERKRGKPGTRFTQ
12:119591376-119591376 A>T	0.0	2098	MELANOMA	-	-	-	-	SRRM4	uc001txa.2,p.K438M|NM_194286,p.K438M|ENST00000267260,p.K438M	protein_coding, processed_transcript	uc001txa.2	nonsynonymous SNV	exon11	c.A1313T	p.K438M	KRSYSRSPSYSSKSGKRSPPSRSSR	KRSYSRSPSYSSMSGKRSPPSRSSR	1.0	1.0	unscreened	-	2098_12:119591376-119591376 A>T_KRSYSRSPSYSSMSGKRSPPSRSSR
15:74554891-74554891 A>C	0.0	2098	MELANOMA	-	-	-	-	CCDC33	ENST00000398814,p.Q99P|uc002axo.4,p.Q99P|ENST00000321288,p.Q302P|NM_025055,p.Q99P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002axo.4	nonsynonymous SNV	exon3	c.A296C	p.Q99P	APIWGDTVNVEIQAEDAGQEDVILK	APIWGDTVNVEIPAEDAGQEDVILK	1.0	1.0	unscreened	-	2098_15:74554891-74554891 A>C_APIWGDTVNVEIPAEDAGQEDVILK
1:169697358-169697358 C>T	0.0	2098	MELANOMA	-	-	-	-	SELE	uc001ggm.4,p.E374K|ENST00000367777,p.E374K|NM_000450,p.E374K|ENST00000367782,p.E374K|ENST00000333360,p.E374K	protein_coding, processed_transcript	uc001ggm.4	nonsynonymous SNV	exon8	c.G1120A	p.E374K	CEAFQCTALSNPERGYMNCLPSASG	CEAFQCTALSNPKRGYMNCLPSASG	2.0	1.0	unscreened	-	2098_1:169697358-169697358 C>T_CEAFQCTALSNPKRGYMNCLPSASG
2:228860321-228860321 C>T	0.0	2098	MELANOMA	-	-	-	-	SPHKAP	NM_001142644,p.S1513N|ENST00000392056,p.S1513N|uc002vpp.2,p.S1513N|NM_030623,p.S1513N|ENST00000344657,p.S1513N|uc002vpq.2,p.S1513N	retained_intron, protein_coding	uc002vpq.2	nonsynonymous SNV	exon8	c.G4538A	p.S1513N	RAPDEAPNPPSSSEESTGSWTQLAN	RAPDEAPNPPSSNEESTGSWTQLAN	1.0	9.0	unscreened	-	2098_2:228860321-228860321 C>T_RAPDEAPNPPSSNEESTGSWTQLAN
7:141755449-141755449 G>A	0.0	2098	MELANOMA	-	-	-	-	MGAM	uc003vwy.3,p.E1136K|ENST00000549489,p.E1136K|NM_004668,p.E1136K|ENST00000475668,p.E1136K	retained_intron, protein_coding, processed_transcript	uc003vwy.3	nonsynonymous SNV	exon28	c.G3406A	p.E1136K	TRLPSKYLYGFGETEHRSYRRDLEW	TRLPSKYLYGFGKTEHRSYRRDLEW	1.0	9.0	unscreened	-	2098_7:141755449-141755449 G>A_TRLPSKYLYGFGKTEHRSYRRDLEW
2:97853123-97853123 G>C	0.0	2098	MELANOMA	-	-	-	-	ANKRD36	ENST00000420699,p.E710Q|ENST00000461153,p.E710Q|NM_001164315,p.E710Q|uc010yva.2,p.E710Q	retained_intron, protein_coding	uc010yva.2	nonsynonymous SNV	exon32	c.G2128C	p.E710Q	SVSNIATEIKDGEKSGTVSSQKQPA	SVSNIATEIKDGQKSGTVSSQKQPA	6.0	1.0	unscreened	-	2098_2:97853123-97853123 G>C_SVSNIATEIKDGQKSGTVSSQKQPA
4:159956195-159956195 C>T	0.0	2098	MELANOMA	-	-	-	-	C4orf45	ENST00000434826,p.M18I|uc003iqf.1,p.M18I|NM_152543,p.M18I	protein_coding, processed_transcript	uc003iqf.1	nonsynonymous SNV	exon1	c.G54A	p.M18I	YQKPTSTTVGKQMIFTGPDYIKDYL	YQKPTSTTVGKQIIFTGPDYIKDYL	1.0	8.0	unscreened	-	2098_4:159956195-159956195 C>T_YQKPTSTTVGKQIIFTGPDYIKDYL
12:10133280-10133280 C>T	0.0	2098	MELANOMA	-	-	-	-	CLEC12A	uc001qws.4,p.A127V|ENST00000434319,p.A160V|uc001qwt.3,p.A89V|NM_138337,p.A160V|ENST00000355690,p.A170V|ENST00000304361,p.A160V|NM_001207010,p.A170V|uc001qwq.3,p.A170V|NM_201623,p.A127V|NM_001300730,p.A160V|ENST00000350667,p.A127V|uc001qwr.4,p.A160V	retained_intron, protein_coding	uc001qwt.3	nonsynonymous SNV	exon3	c.C266T	p.A89V	SDDVQTWQESKMACAAQNASLLKIN	SDDVQTWQESKMVCAAQNASLLKIN	1.0	8.0	unscreened	-	2098_12:10133280-10133280 C>T_SDDVQTWQESKMVCAAQNASLLKIN
15:84566671-84566671 G>A	0.0	2098	MELANOMA	-	-	-	-	ADAMTSL3	uc010bmt.1,p.G510E|uc002bjz.4,p.G510E|ENST00000567476,p.G510E|NM_001301110,p.G510E|NM_207517,p.G510E|ENST00000286744,p.G510E	retained_intron, protein_coding, processed_transcript	uc010bmt.1	nonsynonymous SNV	exon14	c.G1529A	p.G510E	LRYRVVLCINHRGEHVGGCNPQLKL	LRYRVVLCINHREEHVGGCNPQLKL	1.0	3.0	unscreened	-	2098_15:84566671-84566671 G>A_LRYRVVLCINHREEHVGGCNPQLKL
3:126272188-126272188 T>A	0.0	2098	MELANOMA	-	-	-	-	C3orf22	NM_152533,p.R16W|ENST00000505070,p.R16W|ENST00000318225,p.R16W|uc003ejb.3,p.R16W	protein_coding, nonsense_mediated_decay	uc003ejb.3	nonsynonymous SNV	exon2	c.A46T	p.R16W	SACKKSHQSKKWRIQAQENFAKKFP	SACKKSHQSKKWWIQAQENFAKKFP	1.0	9.0	unscreened	-	2098_3:126272188-126272188 T>A_SACKKSHQSKKWWIQAQENFAKKFP
3:113303575-113303575 G>A	0.0	2098	MELANOMA	-	-	-	-	SIDT1	uc011big.2,p.R42Q|NM_017699,p.R289Q|uc003eak.3,p.R289Q|ENST00000393830,p.R289Q|uc021xcn.1,p.R289Q|ENST00000264852,p.R289Q	retained_intron, protein_coding, processed_transcript	uc021xcn.1	nonsynonymous SNV	exon8	c.G866A	p.R289Q	IQEKENQTWNLQRKKNLEVTIVPSI	IQEKENQTWNLQQKKNLEVTIVPSI	1.0	9.0	unscreened	-	2098_3:113303575-113303575 G>A_IQEKENQTWNLQQKKNLEVTIVPSI
20:45131019-45131019 G>A	0.0	2098	MELANOMA	-	-	ID=COSM1713583;OCCURENCE=1(skin)	-	ZNF334	uc010ghl.4,p.S319F|uc031rtw.1,p.S282F|uc002xsc.4,p.S320F|NM_018102,p.S320F|NM_001270497,p.S319F|uc002xsa.4,p.S343F|ENST00000347606,p.S320F|ENST00000457685,p.S282F|uc002xsd.4,p.S282F|ENST00000593880,p.S343F|uc002xsb.4,p.S282F	protein_coding	uc031rtw.1	nonsynonymous SNV	exon5	c.C845T	p.S282F	LIVHQKIHGGEKSYECNECGKTFFR	LIVHQKIHGGEKFYECNECGKTFFR	7.0	7.0	unscreened	-	2098_20:45131019-45131019 G>A_LIVHQKIHGGEKFYECNECGKTFFR
3:130140039-130140039 G>A	0.0	2098	MELANOMA	-	-	-	-	COL6A5	ENST00000432398,p.G1665R|NM_001278298,p.G1665R|uc010htj.2,p.G1665R|ENST00000265379,p.G1665R|NM_153264,p.G1665R|ENST00000312481,p.G1665R|uc010htk.2,p.G1665R	protein_coding, nonsense_mediated_decay	uc010htk.2	nonsynonymous SNV	exon26	c.G4993A	p.G1665R	SGIPGYGQMGRKGVKGPRGFPGDAG	SGIPGYGQMGRKRVKGPRGFPGDAG	1.0	1.0	unscreened	-	2098_3:130140039-130140039 G>A_SGIPGYGQMGRKRVKGPRGFPGDAG
3:52817000-52817000 G>A	0.0	2098	MELANOMA	-	-	-	-	ITIH1	uc021wzh.1,p.G32R|NM_001166434,p.G178R|ENST00000273283,p.G320R|NM_002215,p.G320R|NM_001166436,p.G32R|NM_001166435,p.G32R|ENST00000542827,p.G320R|ENST00000537050,p.G32R|uc021wzf.1,p.G178R|uc021wzg.1,p.G32R|ENST00000540715,p.G178R|uc003dfs.3,p.G320R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wzh.1	nonsynonymous SNV	exon5	c.G94A	p.G32R	VKQTKEALLKILGDMQPGDYFDLVL	VKQTKEALLKILRDMQPGDYFDLVL	1.0	8.0	unscreened	-	2098_3:52817000-52817000 G>A_VKQTKEALLKILRDMQPGDYFDLVL
5:156926634-156926634 T>G	1.0	2098	MELANOMA	-	-	-	-	ADAM19	uc003lww.3,p.T182P|NM_033274,p.T449P|uc011ddr.1,p.T380P|uc003lwz.4,p.T449P|uc003lwy.3,p.T48P|ENST00000257527,p.T449P|ENST00000394020,p.T451P|ENST00000430702,p.T182P|ENST00000517905,p.T449P	retained_intron, protein_coding, nonsense_mediated_decay	uc011ddr.1	nonsynonymous SNV	exon13	c.A1138C	p.T380P	ECNNPCCNASNCTLRPGAECAHGSC	ECNNPCCNASNCPLRPGAECAHGSC	9.0	2.0	unscreened	-	2098_5:156926634-156926634 T>G_ECNNPCCNASNCPLRPGAECAHGSC
8:143562721-143562721 G>A	0.0	2098	MELANOMA	-	-	-	-	BAI1	ENST00000323289,p.M645I|ENST00000521208,p.M645I|ENST00000517894,p.M645I|uc003ywm.3,p.M645I|NM_001702,p.M645I	retained_intron, protein_coding, nonsense_mediated_decay	uc003ywm.3	nonsynonymous SNV	exon9	c.G1935A	p.M645I	RCVSIDYRNIQMMTREHLAKAQRGL	RCVSIDYRNIQMITREHLAKAQRGL	2.0	8.0	unscreened	-	2098_8:143562721-143562721 G>A_RCVSIDYRNIQMITREHLAKAQRGL
21:46900033-46900033 C>T	1.0	2098	MELANOMA	-	-	-	-	COL18A1	NM_130445,p.P454L|ENST00000359759,p.P869L|ENST00000355480,p.P634L|ENST00000400337,p.P454L|NM_030582,p.P634L|uc002zhg.3,p.P454L|uc002zhi.3,p.P634L	retained_intron, protein_coding, processed_transcript	uc002zhi.3	nonsynonymous SNV	exon10	c.C1901T	p.P634L	VGERGPPGPQGPPGPPGPSFRHDKL	VGERGPPGPQGPLGPPGPSFRHDKL	10.0	6.0	unscreened	-	2098_21:46900033-46900033 C>T_VGERGPPGPQGPLGPPGPSFRHDKL
1:157062530-157062530 C>T	0.0	2098	MELANOMA	-	-	-	-	ETV3L	ENST00000454449,p.E333K|uc001fqq.2,p.E333K|NM_001004341,p.E333K	protein_coding	uc001fqq.2	nonsynonymous SNV	exon5	c.G997A	p.E333K	KGGLDPREVFCPETRRLKTGEESLT	KGGLDPREVFCPKTRRLKTGEESLT	2.0	8.0	unscreened	-	2098_1:157062530-157062530 C>T_KGGLDPREVFCPKTRRLKTGEESLT
2:74459627-74459627 G>A	0.0	2098	MELANOMA	-	-	-	-	SLC4A5	NM_021196,p.P915S|uc002skn.3,p.P915S|ENST00000358683,p.P813S|uc002skp.1,p.P813S|ENST00000394019,p.P915S|ENST00000359484,p.P813S|uc002sko.1,p.P915S|NM_133478,p.P915S|ENST00000357822,p.P915S|ENST00000377632,p.P915S|uc010ffc.1,p.P915S|ENST00000377634,p.P915S|ENST00000346834,p.P915S	retained_intron, protein_coding, processed_transcript	uc010ffc.1	nonsynonymous SNV	exon19	c.C2743T	p.P915S	IDSLKMETETSAPGEQPQFLGVREQ	IDSLKMETETSASGEQPQFLGVREQ	4.0	8.0	unscreened	-	2098_2:74459627-74459627 G>A_IDSLKMETETSASGEQPQFLGVREQ
7:139097320-139097320 C>T	1.0	2098	MELANOMA	-	-	-	-	C7orf55-LUC7L2,LUC7L2	NM_016019,p.P268L|ENST00000263545,p.P267L|uc003vva.3,p.P215L|uc011kqs.2,p.P265L|ENST00000541170,p.P265L|uc003vux.4,p.P268L|NM_001270643,p.P267L|ENST00000541515,p.P334L|ENST00000354926,p.P268L|uc011kqt.3,p.P334L|NM_001244584,p.P334L|uc003vuy.4,p.P267L|NM_001244585,p.P265L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kqt.3	nonsynonymous SNV	exon9	c.C1001T	p.P334L	EKLRRSRSHSKNPKRSRSREHRRHR	EKLRRSRSHSKNLKRSRSREHRRHR	10.0	6.0	unscreened	-	2098_7:139097320-139097320 C>T_EKLRRSRSHSKNLKRSRSREHRRHR
3:25674029-25674029 G>A	1.0	2098	MELANOMA	-	-	-	-	TOP2B	ENST00000264331,p.P392S|ENST00000424225,p.P387S|uc011awn.1,p.P392S|uc021wug.1,p.P387S|NM_001068,p.P387S|uc003cdj.3,p.P387S|ENST00000435706,p.P387S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wug.1	nonsynonymous SNV	exon11	c.C1159T	p.P387S	HIWVFINCLIENPTFDSQTKENMTL	HIWVFINCLIENSTFDSQTKENMTL	9.0	4.0	unscreened	-	2098_3:25674029-25674029 G>A_HIWVFINCLIENSTFDSQTKENMTL
17:39432017-39432017 C>T	0.0	2098	MELANOMA	-	-	-	-	KRTAP9-7	ENST00000391354,p.T23I|uc031rah.1,p.T23I|NM_001277332,p.T23I	protein_coding	uc031rah.1	nonsynonymous SNV	exon1	c.C68T	p.T23I	PTCCRTTCWKPTTVTTCSSTPCCQP	PTCCRTTCWKPTIVTTCSSTPCCQP	1.0	3.0	unscreened	-	2098_17:39432017-39432017 C>T_PTCCRTTCWKPTIVTTCSSTPCCQP
21:22582977-22582977 G>A	0.0	2098	MELANOMA	-	-	-	-	NCAM2	ENST00000535285,p.E33K|uc011acc.2,p.E33K	protein_coding, processed_transcript	uc011acc.2	nonsynonymous SNV	exon2	c.G97A	p.E33K	FVDWKYNEALYLEEGQPETYYRTAL	FVDWKYNEALYLKEGQPETYYRTAL	1.0	5.0	unscreened	-	2098_21:22582977-22582977 G>A_FVDWKYNEALYLKEGQPETYYRTAL
3:131068494-131068494 C>T	0.0	2098	MELANOMA	-	-	-	-	NEK11	uc003eoa.3,p.S572F|NM_001146003,p.S572F|ENST00000510688,p.S572F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003eoa.3	nonsynonymous SNV	exon16	c.C1715T	p.S572F	REQGIRMLAKQRSASVWKKWCLKPA	REQGIRMLAKQRFASVWKKWCLKPA	3.0	3.0	unscreened	-	2098_3:131068494-131068494 C>T_REQGIRMLAKQRFASVWKKWCLKPA
11:78525422-78525422 G>A	0.0	2098	MELANOMA	-	-	-	-	TENM4	uc001ozl.4,p.P567L|NM_001098816,p.P567L|ENST00000278550,p.P567L	retained_intron, protein_coding, processed_transcript	uc001ozl.4	nonsynonymous SNV	exon13	c.C1700T	p.P567L	FLTTAIESVDNCPSNCYGNGDCISG	FLTTAIESVDNCLSNCYGNGDCISG	4.0	4.0	unscreened	-	2098_11:78525422-78525422 G>A_FLTTAIESVDNCLSNCYGNGDCISG
9:33264653-33264653 G>C	0.0	2098	MELANOMA	-	-	-	-	BAG1	ENST00000472232,p.A7G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000472232	nonsynonymous SNV	exon1	c.C20G	p.A7G	LAQRGGARRPRGDRERLGS	LAQRGGGRRPRGDRERLGS	8.0	8.0	unscreened	-	2098_9:33264653-33264653 G>C_LAQRGGGRRPRGDRERLGS
4:166999147-166999147 G>A	0.0	2098	MELANOMA	-	-	ID=COSM1695221;OCCURENCE=1(skin)	-	TLL1	NM_012464,p.E803K|uc011cjo.2,p.E627K|uc003irh.2,p.E803K|ENST00000507499,p.E826K|uc011cjn.2,p.E826K|ENST00000061240,p.E803K	protein_coding, nonsense_mediated_decay	uc011cjo.2	nonsynonymous SNV	exon18	c.G1879A	p.E627K	PDKYPSRKECTWEISATPGHRIKLA	PDKYPSRKECTWKISATPGHRIKLA	1.0	8.0	unscreened	-	2098_4:166999147-166999147 G>A_PDKYPSRKECTWKISATPGHRIKLA
10:134259216-134259216 G>A	0.0	2098	MELANOMA	-	-	-	-	C10orf91	NM_173541,p.V16M|ENST00000321248,p.V16M|uc001llm.3,p.V16M|ENST00000392630,p.V16M	protein_coding, processed_transcript	uc001llm.3	nonsynonymous SNV	exon2	c.G46A	p.V16M	FLPGAESVSMGPVPGVSSLGACWTH	FLPGAESVSMGPMPGVSSLGACWTH	1.0	7.0	unscreened	-	2098_10:134259216-134259216 G>A_FLPGAESVSMGPMPGVSSLGACWTH
3:100373801-100373801 G>A	0.0	2098	MELANOMA	-	-	-	-	GPR128	uc011bhc.2,p.G202D|NM_032787,p.G501D|uc003dud.3,p.G24D|uc003duc.3,p.G501D|ENST00000273352,p.G501D|ENST00000475887,p.G206D	protein_coding, processed_transcript	uc011bhc.2	nonsynonymous SNV	exon6	c.G605A	p.G202D	IENSNKNLQTSDGDINNIDFDNNDI	IENSNKNLQTSDDDINNIDFDNNDI	1.0	8.0	unscreened	-	2098_3:100373801-100373801 G>A_IENSNKNLQTSDDDINNIDFDNNDI
5:173534417-173534417 C>T	0.0	2098	MELANOMA	-	-	-	-	HMP19	uc003mcx.4,p.A142V|NM_015980,p.A142V|ENST00000521278,p.A142V|ENST00000519717,p.A142V|ENST00000303177,p.A142V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003mcx.4	nonsynonymous SNV	exon5	c.C425T	p.A142V	SRFYTVISHYSVAKQSTARAIGPWL	SRFYTVISHYSVVKQSTARAIGPWL	1.0	8.0	unscreened	-	2098_5:173534417-173534417 C>T_SRFYTVISHYSVVKQSTARAIGPWL
1:153004912-153004912 G>A	0.0	2098	MELANOMA	-	-	-	-	SPRR1B	uc021ozp.1,p.E31K|ENST00000307098,p.E31K|uc001fba.3,p.E31K|ENST00000392661,p.E31K|NM_003125,p.E31K	protein_coding	uc021ozp.1	nonsynonymous SNV	exon1	c.G91A	p.E31K	QQVKQPCQPPPQEPCIPKTKEPCHP	QQVKQPCQPPPQKPCIPKTKEPCHP	1.0	9.0	unscreened	-	2098_1:153004912-153004912 G>A_QQVKQPCQPPPQKPCIPKTKEPCHP
9:33264653-33264653 G>C	0.0	2098	MELANOMA	-	-	-	-	BAG1	NM_004323,p.A7G|uc003zsj.3,p.A7G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zsj.3	nonsynonymous SNV	exon1	c.C20G	p.A7G	MAQRGGARRPRGDRERLGS	MAQRGGGRRPRGDRERLGS	8.0	8.0	unscreened	-	2098_9:33264653-33264653 G>C_MAQRGGGRRPRGDRERLGS
13:52439950-52439950 G>A	0.0	2098	MELANOMA	-	-	-	-	CCDC70	NM_031290,p.D146N|uc021rjv.1,p.D146N|ENST00000242819,p.D146N|uc001vfu.4,p.D146N	protein_coding	uc021rjv.1	nonsynonymous SNV	exon1	c.G436A	p.D146N	AFWKEDNALWERDRNLLQEDKALWE	AFWKEDNALWERNRNLLQEDKALWE	2.0	5.0	unscreened	-	2098_13:52439950-52439950 G>A_AFWKEDNALWERNRNLLQEDKALWE
9:133271311-133271311 G>A	0.0	2098	MELANOMA	-	-	-	-	HMCN2	uc004bzj.3,p.E189K	protein_coding, processed_transcript	uc004bzj.3	nonsynonymous SNV	exon13	c.G565A	p.E189K	KITWHRDGIVLQEDAHTQFPERGRF	KITWHRDGIVLQKDAHTQFPERGRF	1.0	8.0	unscreened	-	2098_9:133271311-133271311 G>A_KITWHRDGIVLQKDAHTQFPERGRF
4:1075357-1075357 G>A	0.0	2098	MELANOMA	-	-	-	-	RNF212	ENST00000433731,p.S138L|uc003gci.3,p.S138L|NM_194439,p.S138L|NM_001131034,p.S138L|uc003gcj.3,p.S138L|ENST00000382968,p.S138L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gcj.3	nonsynonymous SNV	exon6	c.C413T	p.S138L	QQTAFSTIKSSVSTKPHGCLLPPHS	QQTAFSTIKSSVLTKPHGCLLPPHS	1.0	4.0	unscreened	-	2098_4:1075357-1075357 G>A_QQTAFSTIKSSVLTKPHGCLLPPHS
7:100679021-100679021 G>A	0.0	2098	MELANOMA	-	-	-	-	MUC17	ENST00000379439,p.G1442S|uc003uxp.1,p.G1442S|NM_001040105,p.G1442S|ENST00000306151,p.G1442S	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.G4324A	p.G1442S	SAEATSSPTTAEGISIPTSTPSEGK	SAEATSSPTTAESISIPTSTPSEGK	1.0	9.0	unscreened	-	2098_7:100679021-100679021 G>A_SAEATSSPTTAESISIPTSTPSEGK
19:41025577-41025577 G>A	0.0	2098	MELANOMA	-	-	-	-	SPTBN4	ENST00000595535,p.R1058Q|ENST00000352632,p.R1058Q|NM_020971,p.R1058Q|uc002ony.3,p.R1058Q|uc002onx.3,p.R1058Q|ENST00000338932,p.R1058Q|ENST00000597389,p.R450Q|uc002onz.3,p.R1058Q|ENST00000344104,p.R1058Q|ENST00000598249,p.R1058Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002onz.3	nonsynonymous SNV	exon16	c.G3173A	p.R1058Q	ALLAERFPAQAARLHQGAEELGAEW	ALLAERFPAQAAQLHQGAEELGAEW	2.0	4.0	unscreened	-	2098_19:41025577-41025577 G>A_ALLAERFPAQAAQLHQGAEELGAEW
4:4199093-4199093 G>A	0.0	2098	MELANOMA	-	-	-	-	OTOP1	NM_177998,p.P490S|uc003ghp.1,p.P490S|ENST00000296358,p.P490S	protein_coding	uc003ghp.1	nonsynonymous SNV	exon5	c.C1468T	p.P490S	CPKSGGVARDVAPQGKDMPPAANGN	CPKSGGVARDVASQGKDMPPAANGN	1.0	9.0	unscreened	-	2098_4:4199093-4199093 G>A_CPKSGGVARDVASQGKDMPPAANGN
16:815775-815775 C>T	0.0	2098	MELANOMA	0.0018	-	-	-	MSLN	uc002cjw.2,p.R294W|ENST00000382862,p.R294W|NM_001177355,p.R294W|ENST00000566549,p.R294W|ENST00000563941,p.R294W|uc002cjt.1,p.R294W|ENST00000545450,p.R294W|NM_013404,p.R294W|uc010brd.1,p.R293W|uc002cju.1,p.R294W|ENST00000563651,p.R237W|NM_005823,p.R294W	protein_coding	uc010brd.1	nonsynonymous SNV	exon10	c.C877T	p.R293W	RQPERTILRPRFRREVEKTACPSGK	RQPERTILRPRFWREVEKTACPSGK	1.0	3.0	unscreened	-	2098_16:815775-815775 C>T_RQPERTILRPRFWREVEKTACPSGK
6:26032057-26032057 C>T	0.0	2098	MELANOMA	-	-	-	1	HIST1H3B	ENST00000244661,p.D78N|NM_003537,p.D78N|uc003nfs.1,p.D78N	protein_coding	uc003nfs.1	nonsynonymous SNV	exon1	c.G232A	p.D78N	LPFQRLVREIAQDFKTDLRFQSSAV	LPFQRLVREIAQNFKTDLRFQSSAV	3.0	4.0	unscreened	-	2098_6:26032057-26032057 C>T_LPFQRLVREIAQNFKTDLRFQSSAV
14:58604924-58604924 C>T	1.0	2098	MELANOMA	-	-	-	-	C14orf37	uc001xdd.3,p.G385R|uc001xdc.3,p.G385R|uc010tro.2,p.G423R|uc001xde.3,p.G385R|NM_001001872,p.G385R|ENST00000267485,p.G385R	retained_intron, protein_coding, processed_transcript	uc010tro.2	nonsynonymous SNV	exon3	c.G1267A	p.G423R	ETHTGTALLIAHGNERSPAFTDQSS	ETHTGTALLIAHRNERSPAFTDQSS	5.0	5.0	unscreened	-	2098_14:58604924-58604924 C>T_ETHTGTALLIAHRNERSPAFTDQSS
4:146601462-146601462 A>G	0.0	2098	MELANOMA	-	-	-	-	C4orf51	uc003ikk.3,p.D36G|NM_001080531,p.D36G|ENST00000438731,p.D36G	protein_coding, processed_transcript	uc003ikk.3	nonsynonymous SNV	exon1	c.A107G	p.D36G	DLIRRKAGASWQDETRWSDSSVTTY	DLIRRKAGASWQGETRWSDSSVTTY	1.0	2.0	unscreened	-	2098_4:146601462-146601462 A>G_DLIRRKAGASWQGETRWSDSSVTTY
11:94759856-94759856 G>A	0.0	2098	MELANOMA	-	-	-	-	KDM4E	uc010ruf.1,p.A379T|NM_001161630,p.A379T|ENST00000450979,p.A379T	protein_coding	uc010ruf.1	nonsynonymous SNV	exon1	c.G1135A	p.A379T	AALGLRLLPNLTAQCPTQPVSSGHC	AALGLRLLPNLTTQCPTQPVSSGHC	1.0	4.0	unscreened	-	2098_11:94759856-94759856 G>A_AALGLRLLPNLTTQCPTQPVSSGHC
9:104032270-104032270 C>T	0.0	2098	MELANOMA	-	-	-	-	LPPR1	uc004bbc.3,p.P58S|uc010mtc.3,p.P42S|NM_207299,p.P58S|ENST00000374874,p.P58S|uc004bbb.3,p.P58S|ENST00000456287,p.P58S|uc011lvi.2,p.P34S|NM_017753,p.P58S|ENST00000395056,p.P58S	protein_coding, processed_transcript	uc011lvi.2	nonsynonymous SNV	exon2	c.C100T	p.P34S	QGFFCQDGDLMKPYPGTEEESFITP	QGFFCQDGDLMKSYPGTEEESFITP	1.0	5.0	unscreened	-	2098_9:104032270-104032270 C>T_QGFFCQDGDLMKSYPGTEEESFITP
22:37964409-37964429 CAGCGCCTGCTGCAAACCCCT>-	0.0	2098	MELANOMA	0.39	rs200195385	ID=COSM298066;OCCURENCE=4(upper_aerodigestive_tract),1(haematopoietic_and_lymphoid_tissue),1(endometrium),1(liver),6(large_intestine),2(skin),3(breast)	-	CDC42EP1	uc003asz.4,p.253_260del|ENST00000249014,p.253_260del|NM_152243,p.253_260del	protein_coding	uc003asz.4	nonframeshift deletion	exon3	c.758_778del	p.253_260del	PAANPPATTANPPAPAANPSAPAAT	PAANPPATTANPPAPAATPTGPAAN	10.0	5.0	unscreened	-	2098_22:37964409-37964429 CAGCGCCTGCTGCAAACCCCT>-_PAANPPATTANPPAPAATPTGPAAN
5:173534417-173534417 C>T	0.0	2098	MELANOMA	-	-	-	-	HMP19	uc011dfh.2,p.P46S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dfh.2	nonsynonymous SNV	exon3	c.C136T	p.P46S	AASTQSSATTAWPSRALPGPSGRGC	AASTQSSATTAWSSRALPGPSGRGC	1.0	8.0	unscreened	-	2098_5:173534417-173534417 C>T_AASTQSSATTAWSSRALPGPSGRGC
11:10328064-10328064 G>T	0.0	2098	MELANOMA	-	-	-	-	ADM	ENST00000525063,p.G145V|NM_001124,p.G145V|ENST00000534464,p.G98V|ENST00000278175,p.G145V|uc001mil.1,p.G145V|ENST00000528655,p.G145V|ENST00000530439,p.G77V	protein_coding	uc001mil.1	nonsynonymous SNV	exon4	c.G434T	p.G145V	DNVAPRSKISPQGYGRRRRRSLPEA	DNVAPRSKISPQVYGRRRRRSLPEA	6.0	3.0	unscreened	-	2098_11:10328064-10328064 G>T_DNVAPRSKISPQVYGRRRRRSLPEA
12:7459223-7459223 G>A	0.0	2098	MELANOMA	-	-	ID=COSM1181695,COSM1181694;OCCURENCE=1(large_intestine)	-	ACSM4	ENST00000399422,p.R99Q|NM_001080454,p.R99Q|uc001qsx.1,p.R99Q	retained_intron, protein_coding	uc001qsx.1	nonsynonymous SNV	exon2	c.G296A	p.R99Q	VKWSFRELGSLSRKAANVLTKPCGL	VKWSFRELGSLSQKAANVLTKPCGL	1.0	8.0	unscreened	-	2098_12:7459223-7459223 G>A_VKWSFRELGSLSQKAANVLTKPCGL
6:70071066-70071066 G>A	0.0	2098	MELANOMA	-	-	-	-	BAI3	ENST00000370598,p.E1301K|ENST00000238918,p.E507K|uc010kak.3,p.E1301K|uc011dxx.2,p.E507K|ENST00000546190,p.E265K|NM_001704,p.E1301K|uc003pev.4,p.E1301K	protein_coding	uc011dxx.2	nonsynonymous SNV	exon13	c.G1519A	p.E507K	LRGADMDIVHPQERMMESDYIVMPR	LRGADMDIVHPQKRMMESDYIVMPR	1.0	6.0	unscreened	-	2098_6:70071066-70071066 G>A_LRGADMDIVHPQKRMMESDYIVMPR
6:32183016-32183016 C>T	0.0	2098	MELANOMA	-	-	-	-	NOTCH4	NM_004557,p.G670R|uc003obb.3,p.G670R|ENST00000375023,p.G670R	retained_intron, protein_coding, processed_transcript	uc003obb.3	nonsynonymous SNV	exon12	c.G2008A	p.G670R	CAPPEDNCTCHHGHCQRSSCVCDVG	CAPPEDNCTCHHRHCQRSSCVCDVG	5.0	2.0	unscreened	-	2098_6:32183016-32183016 C>T_CAPPEDNCTCHHRHCQRSSCVCDVG
1:248004483-248004483 G>A	0.0	2098	MELANOMA	-	-	-	-	OR11L1	NM_001001959,p.S239F|ENST00000355784,p.S239F|uc001idn.1,p.S239F	protein_coding	uc001idn.1	nonsynonymous SNV	exon1	c.C716T	p.S239F	RIPSTSGRRKTFSTCGSHLAVVTLY	RIPSTSGRRKTFFTCGSHLAVVTLY	1.0	6.0	unscreened	-	2098_1:248004483-248004483 G>A_RIPSTSGRRKTFFTCGSHLAVVTLY
6:54735083-54735083 G>C	0.0	2098	MELANOMA	-	-	-	-	FAM83B	uc003pck.4,p.E13D|NM_001010872,p.E13D|ENST00000306858,p.E13D	protein_coding	uc003pck.4	nonsynonymous SNV	exon2	c.G39C	p.E13D	METSSMLSSLNDECKSDNYIEPHYK	METSSMLSSLNDDCKSDNYIEPHYK	1.0	2.0	unscreened	-	2098_6:54735083-54735083 G>C_METSSMLSSLNDDCKSDNYIEPHYK
6:42074823-42074823 G>A	0.0	2098	MELANOMA	-	-	-	-	C6orf132	ENST00000341865,p.P276L|NM_001164446,p.P276L|uc003orw.2,p.P276L	protein_coding	uc003orw.2	nonsynonymous SNV	exon4	c.C827T	p.P276L	LNGRQAEATRASPPRSPAEPKGSAL	LNGRQAEATRASLPRSPAEPKGSAL	1.0	8.0	unscreened	-	2098_6:42074823-42074823 G>A_LNGRQAEATRASLPRSPAEPKGSAL
4:85781714-85781714 G>A	1.0	2098	MELANOMA	-	-	-	-	WDFY3	uc003hpd.3,p.P11S|ENST00000509172,p.P11S|NM_014991,p.P11S|ENST00000322366,p.P11S|uc003hpf.3,p.P11S|ENST00000295888,p.P11S	retained_intron, protein_coding, processed_transcript	uc003hpf.3	nonsynonymous SNV	exon2	c.C31T	p.P11S	MNMVKRIMGRPRQEECSPQDNAL	MNMVKRIMGRSRQEECSPQDNAL	8.0	7.0	unscreened	-	2098_4:85781714-85781714 G>A_MNMVKRIMGRSRQEECSPQDNAL
4:162307107-162307107 A>G	0.0	2098	MELANOMA	-	-	-	-	FSTL5	ENST00000379164,p.I778T|uc003iqh.4,p.I779T|ENST00000427802,p.I769T|ENST00000306100,p.I779T|uc003iqi.4,p.I778T|NM_020116,p.I779T|NM_001128427,p.I778T|NM_001128428,p.I769T|ENST00000536695,p.I778T|uc010iqv.4,p.I769T	protein_coding, processed_transcript	uc010iqv.4	nonsynonymous SNV	exon15	c.T2306C	p.I769T	LFVELSSGKVKMIKSLKEPLKAEEW	LFVELSSGKVKMTKSLKEPLKAEEW	1.0	2.0	unscreened	-	2098_4:162307107-162307107 A>G_LFVELSSGKVKMTKSLKEPLKAEEW
X:70288150-70288150 C>T	0.0	2098	MELANOMA	-	-	-	-	SNX12	ENST00000276105,p.D3N|uc031tjw.1,p.D3N|NM_001256187,p.D3N|NM_001256185,p.D3N|NM_013346,p.D3N|uc031tjv.1,p.D3N|ENST00000374274,p.D3N|uc004dyr.2,p.D3N|uc004dyq.4,p.D3N|NM_001256186,p.D3N|uc031tjx.1,p.D3N|NM_001256188,p.D3N|uc031tju.1,p.D3N	protein_coding, processed_transcript	uc031tjx.1	nonsynonymous SNV	exon2	c.G7A	p.D3N	MSDTAVADTRRLNSK	MSNTAVADTRRLNSK	8.0	3.0	unscreened	-	2098_X:70288150-70288150 C>T_MSNTAVADTRRLNSK
1:9074909-9074909 C>T	0.0	2098	MELANOMA	-	-	-	-	SLC2A7	ENST00000400906,p.G245D|uc009vmo.1,p.G245D|NM_207420,p.G245D	protein_coding	uc009vmo.1	nonsynonymous SNV	exon7	c.G734A	p.G245D	EATARQALRRLRGHTDMEAELEDMR	EATARQALRRLRDHTDMEAELEDMR	1.0	8.0	unscreened	-	2098_1:9074909-9074909 C>T_EATARQALRRLRDHTDMEAELEDMR
1:26671506-26671556 ACCTCTTTCCAGGTGGGAAATGAGGCATCAGGAGCACCGGGGCCCTTCACG>-	0.0	2098	MELANOMA	-	-	-	-	AIM1L	NM_001039775,p.531_548del|uc001bmd.4,p.531_548del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001bmd.4	nonframeshift deletion	exon2	c.1593_1643del	p.531_548del	SAPAALFPTWKEVVKGPGAPDASFP	SAPAALFPTWKEVVKGPGAPAASSP	1.0	2.0	unscreened	-	2098_1:26671506-26671556 ACCTCTTTCCAGGTGGGAAATGAGGCATCAGGAGCACCGGGGCCCTTCACG>-_SAPAALFPTWKEVVKGPGAPAASSP
6:43646338-43646338 G>A	1.0	2098	MELANOMA	-	-	-	-	MRPS18A	ENST00000372133,p.P57S|uc003ovy.2,p.P57S|ENST00000427312,p.P57S|ENST00000372116,p.P57S|NM_018135,p.P57S|NM_001193343,p.P57S|uc010jyw.3,p.P57S|uc003ovz.2,p.P57S|uc003owa.2,p.P57S	protein_coding	uc010jyw.3	nonsynonymous SNV	exon3	c.C169T	p.P57S	KTTIIEGRITATPKESPNPPNPSGQ	KTTIIEGRITATSKESPNPPNPSGQ	10.0	4.0	unscreened	-	2098_6:43646338-43646338 G>A_KTTIIEGRITATSKESPNPPNPSGQ
21:46900032-46900032 C>T	1.0	2098	MELANOMA	-	-	-	-	COL18A1	ENST00000359759,p.P869S|NM_030582,p.P634S|uc002zhg.3,p.P454S|ENST00000400337,p.P454S|ENST00000355480,p.P634S|uc002zhi.3,p.P634S|NM_130445,p.P454S	retained_intron, protein_coding, processed_transcript	uc002zhi.3	nonsynonymous SNV	exon10	c.C1900T	p.P634S	VGERGPPGPQGPPGPPGPSFRHDKL	VGERGPPGPQGPSGPPGPSFRHDKL	10.0	6.0	unscreened	-	2098_21:46900032-46900032 C>T_VGERGPPGPQGPSGPPGPSFRHDKL
8:42587226-42587226 C>T	0.0	2098	MELANOMA	-	-	ID=COSM1100058;OCCURENCE=1(endometrium)	-	CHRNB3	ENST00000289957,p.S259L|uc003xpi.1,p.S259L|NM_000749,p.S259L	protein_coding, processed_transcript	uc003xpi.1	nonsynonymous SNV	exon5	c.C776T	p.S259L	LSFLTVLVFYLPSDEGEKLSLSTSV	LSFLTVLVFYLPLDEGEKLSLSTSV	1.0	3.0	unscreened	-	2098_8:42587226-42587226 C>T_LSFLTVLVFYLPLDEGEKLSLSTSV
3:49692665-49692665 G>A	0.0	2098	MELANOMA	-	-	-	-	BSN	ENST00000296452,p.M1892I|NM_003458,p.M1892I|uc003cxe.4,p.M1892I	retained_intron, protein_coding	uc003cxe.4	nonsynonymous SNV	exon5	c.G5676A	p.M1892I	PEEPAGALDLTGMRPESQLACCDMV	PEEPAGALDLTGIRPESQLACCDMV	3.0	8.0	unscreened	-	2098_3:49692665-49692665 G>A_PEEPAGALDLTGIRPESQLACCDMV
11:22277025-22277025 T>A	0.0	2098	MELANOMA	-	-	-	-	ANO5	ENST00000324559,p.F430Y|uc001mqi.2,p.F430Y|NM_001142649,p.F429Y|NM_213599,p.F430Y|uc001mqj.2,p.F429Y	protein_coding, processed_transcript	uc001mqj.2	nonsynonymous SNV	exon13	c.T1286A	p.F429Y	EEEQQQLQLRPEFEAMCKHRKLNAV	EEEQQQLQLRPEYEAMCKHRKLNAV	1.0	3.0	unscreened	-	2098_11:22277025-22277025 T>A_EEEQQQLQLRPEYEAMCKHRKLNAV
4:109765680-109765680 G>A	1.0	2098	MELANOMA	-	-	-	-	COL25A1	uc003hzh.2,p.P515S|NM_001256074,p.P515S|ENST00000399127,p.P515S|uc003hzf.4,p.P515S	retained_intron, protein_coding, nonsense_mediated_decay	uc003hzh.2	nonsynonymous SNV	exon26	c.C1543T	p.P515S	PPGPPGPHGPPGPMGPHGLPGPKGE	PPGPPGPHGPPGSMGPHGLPGPKGE	6.0	7.0	unscreened	-	2098_4:109765680-109765680 G>A_PPGPPGPHGPPGSMGPHGLPGPKGE
18:50866112-50866112 C>T	0.0	2098	MELANOMA	-	-	-	2	DCC	ENST00000442544,p.L732F|NM_005215,p.L732F|uc010dpf.2,p.L387F|uc002lfe.2,p.L732F|uc010xdr.1,p.L580F|ENST00000581580,p.L387F|ENST00000412726,p.L580F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xdr.1	nonsynonymous SNV	exon15	c.C1738T	p.L580F	LDESQVPDQPSSLHVRPQTNCIIMS	LDESQVPDQPSSFHVRPQTNCIIMS	1.0	8.0	unscreened	-	2098_18:50866112-50866112 C>T_LDESQVPDQPSSFHVRPQTNCIIMS
1:216420500-216420500 G>A	0.0	2098	MELANOMA	-	-	-	-	USH2A	uc001hku.1,p.P746S|NM_206933,p.P746S|ENST00000307340,p.P746S|ENST00000366942,p.P746S|NM_007123,p.P746S|ENST00000366943,p.P746S|uc001hkv.3,p.P746S	retained_intron, protein_coding	uc001hkv.3	nonsynonymous SNV	exon13	c.C2236T	p.P746S	KFLRSFNDVGCEPCQCNLHGSVNKF	KFLRSFNDVGCESCQCNLHGSVNKF	1.0	2.0	unscreened	-	2098_1:216420500-216420500 G>A_KFLRSFNDVGCESCQCNLHGSVNKF
4:109765680-109765680 G>A	1.0	2098	MELANOMA	-	-	-	-	COL25A1	uc021xqp.2,p.P542S|ENST00000399126,p.P542S|uc003hze.2,p.P542S|uc021xqo.1,p.P542S|ENST00000399132,p.P542S|NM_198721,p.P542S|NM_032518,p.P542S|uc003hzg.4,p.P542S	retained_intron, protein_coding, nonsense_mediated_decay	uc021xqp.2	nonsynonymous SNV	exon29	c.C1624T	p.P542S	PPGPPGPHGPPGPMGPHGLPGPKGT	PPGPPGPHGPPGSMGPHGLPGPKGT	6.0	7.0	unscreened	-	2098_4:109765680-109765680 G>A_PPGPPGPHGPPGSMGPHGLPGPKGT
11:100933480-100933480 C>T	0.0	2098	MELANOMA	-	-	-	-	PGR	ENST00000528960,p.R598Q	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000528960	nonsynonymous SNV	exon3	c.G1793A	p.R598Q	SCKVFFKRAMEGRKFKKFNKVRVVR	SCKVFFKRAMEGQKFKKFNKVRVVR	1.0	6.0	unscreened	-	2098_11:100933480-100933480 C>T_SCKVFFKRAMEGQKFKKFNKVRVVR
X:140983343-140983343 G>A	0.0	2098	MELANOMA	-	-	-	-	MAGEC3	NM_138702,p.G374E|uc011mwp.2,p.G374E|ENST00000298296,p.G374E	protein_coding, processed_transcript	uc011mwp.2	nonsynonymous SNV	exon6	c.G1121A	p.G374E	GLTEASPQQKKGGEDEDMPAAGMPP	GLTEASPQQKKGEEDEDMPAAGMPP	2.0	8.0	unscreened	-	2098_X:140983343-140983343 G>A_GLTEASPQQKKGEEDEDMPAAGMPP
X:47308724-47308724 C>T	0.0	2098	MELANOMA	-	-	-	-	ZNF41	uc004dhu.4,p.E183K|uc004dhv.4,p.E159K|uc004dhx.4,p.E149K|uc004dhs.4,p.E191K|NM_007130,p.E149K|NM_153380,p.E149K|uc004dhw.4,p.E151K|uc004dhz.4,p.E115K|uc004dht.4,p.E63K|ENST00000397050,p.E159K|ENST00000377065,p.E149K|ENST00000313116,p.E149K|uc011mlm.2,p.E63K|ENST00000432977,p.E159K|uc004dia.4,p.E113K|uc004dhy.4,p.E149K	protein_coding, processed_transcript	uc011mlm.2	nonsynonymous SNV	exon4	c.G187A	p.E63K	LWQDNDQLEQRQENQNNLLSHVKVL	LWQDNDQLEQRQKNQNNLLSHVKVL	5.0	8.0	unscreened	-	2098_X:47308724-47308724 C>T_LWQDNDQLEQRQKNQNNLLSHVKVL
18:24127422-24127422 G>A	1.0	2098	MELANOMA	-	-	-	-	KCTD1	ENST00000417602,p.S360L|NM_001142730,p.S360L|uc010xbj.3,p.S360L	retained_intron, protein_coding, processed_transcript	uc010xbj.3	nonsynonymous SNV	exon1	c.C1079T	p.S360L	FKSLGPYHKSRSSSWSKKRAESSDE	FKSLGPYHKSRSLSWSKKRAESSDE	8.0	4.0	unscreened	-	2098_18:24127422-24127422 G>A_FKSLGPYHKSRSLSWSKKRAESSDE
15:84651430-84651430 G>A	0.0	2098	MELANOMA	-	-	-	-	ADAMTSL3	ENST00000567476,p.G1017E|uc010bmt.1,p.G1017E|uc002bjz.4,p.G1017E|ENST00000286744,p.G1017E|NM_207517,p.G1017E|NM_001301110,p.G1017E	retained_intron, protein_coding, processed_transcript	uc010bmt.1	nonsynonymous SNV	exon21	c.G3050A	p.G1017E	RPALREPMREYPGMDHSEANSLGVT	RPALREPMREYPEMDHSEANSLGVT	1.0	5.0	unscreened	-	2098_15:84651430-84651430 G>A_RPALREPMREYPEMDHSEANSLGVT
12:64679773-64679773 T>C	0.0	2098	MELANOMA	-	-	ID=COSM942476;OCCURENCE=1(endometrium)	-	C12orf56	ENST00000333722,p.N234S|NM_001170633,p.N394S|uc021qzu.1,p.N394S|uc001ssa.4,p.N234S|ENST00000543942,p.N394S|NM_001099676,p.N234S	retained_intron, protein_coding, processed_transcript	uc021qzu.1	nonsynonymous SNV	exon7	c.A1181G	p.N394S	KLHEYLPESRDKNALQNQSQRVDEL	KLHEYLPESRDKSALQNQSQRVDEL	1.0	2.0	unscreened	-	2098_12:64679773-64679773 T>C_KLHEYLPESRDKSALQNQSQRVDEL
3:14813620-14813620 A>G	0.0	2098	MELANOMA	-	-	-	-	C3orf20	NM_001184958,p.K726E|uc003bzb.1,p.K349E|NM_001184957,p.K726E|ENST00000412910,p.K726E|uc003bza.3,p.K726E|uc003byy.3,p.K848E|ENST00000435614,p.K726E|uc011avj.2,p.K175E|ENST00000253697,p.K848E|uc003byz.3,p.K726E|NM_032137,p.K848E	protein_coding, processed_transcript	uc011avj.2	nonsynonymous SNV	exon4	c.A523G	p.K175E	SVLSLEDSESVKKAESEDIQGSSSS	SVLSLEDSESVKEAESEDIQGSSSS	1.0	3.0	unscreened	-	2098_3:14813620-14813620 A>G_SVLSLEDSESVKEAESEDIQGSSSS
19:58564902-58564902 G>A	0.0	2098	MELANOMA	-	-	-	-	ZSCAN1	ENST00000282326,p.S237N|NM_182572,p.S237N|uc002qrc.1,p.S237N	protein_coding	uc002qrc.1	nonsynonymous SNV	exon6	c.G710A	p.S237N	SSDLRAEGTVISSPKGPSAQRISPR	SSDLRAEGTVISNPKGPSAQRISPR	1.0	3.0	unscreened	-	2098_19:58564902-58564902 G>A_SSDLRAEGTVISNPKGPSAQRISPR
12:126138581-126138581 G>A	0.0	2098	MELANOMA	-	-	-	-	TMEM132B	NM_001286219,p.M366I|ENST00000299308,p.M854I|uc001uhe.1,p.M854I|uc001uhf.1,p.M366I|ENST00000535886,p.M366I|NM_052907,p.M854I	retained_intron, protein_coding, processed_transcript	uc001uhf.1	nonsynonymous SNV	exon5	c.G1098A	p.M366I	ESTNKSTTPQSPMEGKNKLLKSGGP	ESTNKSTTPQSPIEGKNKLLKSGGP	2.0	7.0	unscreened	-	2098_12:126138581-126138581 G>A_ESTNKSTTPQSPIEGKNKLLKSGGP
19:40392347-40392347 C>G	0.0	2098	MELANOMA	-	rs2542318	-	-	FCGBP	uc002omp.4,p.Q2719H|NM_003890,p.Q2719H|ENST00000221347,p.Q2719H	protein_coding, processed_transcript	uc002omp.4	nonsynonymous SNV	exon16	c.G8157C	p.Q2719H	HAYVSACQAAGGQVEPWRNETFCPM	HAYVSACQAAGGHVEPWRNETFCPM	1.0	4.0	unscreened	-	2098_19:40392347-40392347 C>G_HAYVSACQAAGGHVEPWRNETFCPM
X:37029433-37029433 G>A	0.0	2098	MELANOMA	-	-	-	2	FAM47C	NM_001013736,p.D984N|ENST00000358047,p.D984N|uc004ddl.2,p.D984N	protein_coding	uc004ddl.2	nonsynonymous SNV	exon1	c.G2950A	p.D984N	ILDGLYGPIAFKDFILSKGYEMPGI	ILDGLYGPIAFKNFILSKGYEMPGI	1.0	7.0	unscreened	-	2098_X:37029433-37029433 G>A_ILDGLYGPIAFKNFILSKGYEMPGI
2:173337567-173337567 C>A	1.0	2098	MELANOMA	-	-	-	-	ITGA6	ENST00000458358,p.P237T|uc010zdy.1,p.P123T|ENST00000343713,p.P237T|ENST00000409532,p.P123T|ENST00000442250,p.P281T|ENST00000375221,p.P281T|ENST00000264106,p.P281T	retained_intron, protein_coding	uc010zdy.1	nonsynonymous SNV	exon5	c.C367A	p.P123T	TDPDQFVYKTRPPREQPDTFPDVMM	TDPDQFVYKTRPTREQPDTFPDVMM	10.0	6.0	unscreened	-	2098_2:173337567-173337567 C>A_TDPDQFVYKTRPTREQPDTFPDVMM
19:1556025-1556025 G>A	1.0	2098	MELANOMA	-	-	-	-	MEX3D	ENST00000402693,p.P498L|ENST00000605173,p.P322L|uc010dsn.3,p.P498L|NM_203304,p.P498L|NM_001174118,p.P498L|ENST00000388824,p.P498L	protein_coding	uc010dsn.3	nonsynonymous SNV	exon2	c.C1493T	p.P498L	SGCSTVNGAPGPPAAGARRSSGAGT	SGCSTVNGAPGPLAAGARRSSGAGT	6.0	4.0	unscreened	-	2098_19:1556025-1556025 G>A_SGCSTVNGAPGPLAAGARRSSGAGT
X:153761796-153761796 C>T	0.0	2098	MELANOMA	-	-	-	-	G6PD	ENST00000393562,p.E317K|uc004fly.1,p.E287K|NM_001042351,p.E287K|ENST00000369620,p.E333K|ENST00000440967,p.E288K|ENST00000439227,p.E288K|NM_000402,p.E317K|ENST00000393564,p.E287K|uc004flx.1,p.E317K	retained_intron, protein_coding, processed_transcript	uc004fly.1	nonsynonymous SNV	exon8	c.G859A	p.E287K	KPASTNSDDVRDEKVKVLKCISEVQ	KPASTNSDDVRDKKVKVLKCISEVQ	10.0	7.0	unscreened	-	2098_X:153761796-153761796 C>T_KPASTNSDDVRDKKVKVLKCISEVQ
1:183534895-183534895 G>A	0.0	2098	MELANOMA	-	-	-	-	NCF2	uc010poe.2,p.S234F|uc010pod.2,p.S270F|NM_001127651,p.S315F|uc001gqj.4,p.S315F|uc001gqk.4,p.S315F|ENST00000419402,p.S54F|ENST00000367535,p.S315F|NM_001190789,p.S234F|ENST00000418089,p.S234F|NM_000433,p.S315F|ENST00000413720,p.S270F|NM_001190794,p.S270F|ENST00000367536,p.S315F	protein_coding, processed_transcript	uc010poe.2	nonsynonymous SNV	exon8	c.C701T	p.S234F	PQQQPQEESSPQSDIPAPPSSKAPG	PQQQPQEESSPQFDIPAPPSSKAPG	3.0	7.0	unscreened	-	2098_1:183534895-183534895 G>A_PQQQPQEESSPQFDIPAPPSSKAPG
19:9090692-9090692 C>T	0.0	2098	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.D375N|NM_024690,p.D375N|ENST00000397910,p.D375N	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.G1123A	p.D375N	TILTFHAFAETMDIPSTHIAKTLAS	TILTFHAFAETMNIPSTHIAKTLAS	1.0	5.0	unscreened	-	2098_19:9090692-9090692 C>T_TILTFHAFAETMNIPSTHIAKTLAS
2:155157982-155157982 C>T	0.0	2098	MELANOMA	-	-	ID=COSM3425340,COSM1400221;OCCURENCE=1(skin),2(large_intestine)	-	GALNT13	uc002tyr.4,p.R346W|NM_001301627,p.R346W|NM_052917,p.R346W|ENST00000392825,p.R346W|uc010foc.1,p.R165W|ENST00000409237,p.R346W|uc010fod.3,p.R99W|uc002tyt.4,p.R346W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fod.3	nonsynonymous SNV	exon3	c.C295T	p.R99W	EIVTCSHVGHVFRKATPYTFPGGTG	EIVTCSHVGHVFWKATPYTFPGGTG	1.0	5.0	unscreened	-	2098_2:155157982-155157982 C>T_EIVTCSHVGHVFWKATPYTFPGGTG
19:38380751-38380751 T>C	0.0	2098	MELANOMA	-	-	-	-	WDR87	NM_001291088,p.K1187R|NM_031951,p.K1148R|ENST00000303868,p.K1148R|ENST00000447313,p.K1187R|uc002ohj.2,p.K1187R|uc010efu.2,p.K1148R	retained_intron, protein_coding	uc010efu.2	nonsynonymous SNV	exon6	c.A3443G	p.K1148R	VYSQWSSSTSVIKLSKDVDSQEKDI	VYSQWSSSTSVIRLSKDVDSQEKDI	1.0	3.0	unscreened	-	2098_19:38380751-38380751 T>C_VYSQWSSSTSVIRLSKDVDSQEKDI
17:74005429-74005429 C>T	0.0	2098	MELANOMA	-	-	-	-	EVPL	uc002jqi.2,p.R1286H|ENST00000301607,p.R1286H|ENST00000586740,p.R1308H|uc010wst.1,p.R756H|uc010wss.1,p.R1308H|NM_001988,p.R1286H	retained_intron, protein_coding	uc010wst.1	nonsynonymous SNV	exon20	c.G2267A	p.R756H	KAQLNELVNSHGRSQEQLIRLQGER	KAQLNELVNSHGHSQEQLIRLQGER	1.0	3.0	unscreened	-	2098_17:74005429-74005429 C>T_KAQLNELVNSHGHSQEQLIRLQGER
3:189587144-189587144 G>A	0.0	2098	MELANOMA	-	-	ID=COSM107406;OCCURENCE=1(skin)	1	TP63	ENST00000456148,p.M289I|ENST00000440651,p.M383I|uc003fse.1,p.M264I	retained_intron, protein_coding	uc003fse.1	nonsynonymous SNV	exon6	c.G792A	p.M264I	GDAFRQNTHGIQMTSIKKRRSPDDE	GDAFRQNTHGIQITSIKKRRSPDDE	2.0	5.0	unscreened	-	2098_3:189587144-189587144 G>A_GDAFRQNTHGIQITSIKKRRSPDDE
3:189587144-189587144 G>A	0.0	2098	MELANOMA	-	-	ID=COSM107406;OCCURENCE=1(skin)	1	TP63	NM_001114979,p.M387I|uc003fsc.2,p.M293I|NM_001114980,p.M293I|ENST00000392461,p.M293I|ENST00000437221,p.M293I|uc003frz.2,p.M387I|ENST00000354600,p.M293I|uc010hzd.1,p.M208I|ENST00000418709,p.M387I|NM_001114978,p.M387I|uc003fsb.2,p.M293I|ENST00000382063,p.M302I|NM_003722,p.M387I|uc003frx.2,p.M387I|NM_001114982,p.M293I|ENST00000392463,p.M293I|ENST00000449992,p.M208I|uc003fry.2,p.M387I|ENST00000264731,p.M387I|NM_001114981,p.M293I|uc010hzc.1,p.M387I|ENST00000320472,p.M387I|uc003fsa.2,p.M293I|uc003fsd.2,p.M293I|uc021xir.1,p.M293I|ENST00000392460,p.M387I	retained_intron, protein_coding	uc021xir.1	nonsynonymous SNV	exon7	c.G879A	p.M293I	KRPFRQNTHGIQMTSIKKRRSPDDE	KRPFRQNTHGIQITSIKKRRSPDDE	2.0	5.0	unscreened	-	2098_3:189587144-189587144 G>A_KRPFRQNTHGIQITSIKKRRSPDDE
16:28328854-28328854 G>A	0.0	2098	MELANOMA	-	-	-	-	SBK1	uc002dpd.3,p.D48N|ENST00000341901,p.D48N|NM_001024401,p.D48N	protein_coding	uc002dpd.3	nonsynonymous SNV	exon2	c.G142A	p.D48N	MQALTLRTLAASDVTKHYELVRELG	MQALTLRTLAASNVTKHYELVRELG	4.0	5.0	unscreened	-	2098_16:28328854-28328854 G>A_MQALTLRTLAASNVTKHYELVRELG
3:36897571-36897571 C>A	1.0	2098	MELANOMA	-	-	-	-	TRANK1	uc003cgj.3,p.K1170N|NM_014831,p.K1170N|ENST00000301807,p.K620N|ENST00000429976,p.K1170N|ENST00000428977,p.K620N	protein_coding, processed_transcript	uc003cgj.3	nonsynonymous SNV	exon12	c.G3510T	p.K1170N	CQEVQRNFIELSKSTKATSHYKPLD	CQEVQRNFIELSNSTKATSHYKPLD	7.0	4.0	unscreened	-	2098_3:36897571-36897571 C>A_CQEVQRNFIELSNSTKATSHYKPLD
2:203644288-203644288 C>T	0.0	2098	MELANOMA	-	-	-	-	ICA1L	NM_138468,p.G473R|ENST00000358299,p.G473R|ENST00000392237,p.G473R|uc002uzi.1,p.G473R|uc002uzh.1,p.G473R|NM_001288623,p.G473R|NM_001288622,p.G473R	retained_intron, protein_coding, nonsense_mediated_decay	uc002uzi.1	nonsynonymous SNV	exon13	c.G1417A	p.G473R	ADLDPLSNPDAIGHSDDELLNA	ADLDPLSNPDAIRHSDDELLNA	3.0	4.0	unscreened	-	2098_2:203644288-203644288 C>T_ADLDPLSNPDAIRHSDDELLNA
9:130536591-130536591 G>A	0.0	2098	MELANOMA	-	-	-	-	SH2D3C	NM_170600,p.P65S|uc004bsc.3,p.P65S|ENST00000314830,p.P65S	protein_coding, processed_transcript	uc004bsc.3	nonsynonymous SNV	exon2	c.C193T	p.P65S	TQDDMVTVPKSPPAYARSSDMYSHM	TQDDMVTVPKSPSAYARSSDMYSHM	4.0	3.0	unscreened	-	2098_9:130536591-130536591 G>A_TQDDMVTVPKSPSAYARSSDMYSHM
4:187209619-187209619 G>A	0.0	2098	MELANOMA	-	-	-	-	F11	uc003iza.1,p.G577S|NM_000128,p.G577S|ENST00000403665,p.G577S|ENST00000264692,p.G525S	retained_intron, protein_coding	uc003iza.1	nonsynonymous SNV	exon15	c.G1729A	p.G577S	EGGKDACKGDSGGPLSCKHNEVWHL	EGGKDACKGDSGSPLSCKHNEVWHL	1.0	8.0	unscreened	-	2098_4:187209619-187209619 G>A_EGGKDACKGDSGSPLSCKHNEVWHL
14:19377873-19377873 C>T	0.0	2098	MELANOMA	-	-	-	-	OR11H12	uc010tkp.2,p.P94S|NM_001013354,p.P94S|ENST00000550708,p.P94S	protein_coding	uc010tkp.2	nonsynonymous SNV	exon1	c.C280T	p.P94S	SFLEIWYVSSTVPKMLVNFLSEKKN	SFLEIWYVSSTVSKMLVNFLSEKKN	1.0	5.0	unscreened	-	2098_14:19377873-19377873 C>T_SFLEIWYVSSTVSKMLVNFLSEKKN
20:57766390-57766390 G>A	0.0	2098	MELANOMA	-	-	-	-	ZNF831	ENST00000371030,p.G106R|NM_178457,p.G106R|uc002yan.3,p.G106R	protein_coding	uc002yan.3	nonsynonymous SNV	exon1	c.G316A	p.G106R	VLQPEGPGPTQVGKPAAPTLTVNIV	VLQPEGPGPTQVRKPAAPTLTVNIV	1.0	7.0	unscreened	-	2098_20:57766390-57766390 G>A_VLQPEGPGPTQVRKPAAPTLTVNIV
8:93003900-93003900 G>A	0.0	2098	MELANOMA	-	-	-	1	RUNX1T1	NM_001198627,p.H320Y|NM_001198628,p.H320Y|ENST00000396218,p.H293Y|ENST00000422361,p.H283Y|uc022axs.1,p.H379Y|NM_001198626,p.H320Y|NM_001198634,p.H331Y|uc022axr.1,p.H320Y|NM_001198632,p.H293Y|uc003yfb.2,p.H283Y|uc011lgi.2,p.H331Y|uc003yfc.2,p.H293Y|NM_001198679,p.H379Y|NM_001198633,p.H300Y|ENST00000520724,p.H283Y|uc003yfe.2,p.H283Y|uc022axt.1,p.H320Y|NM_001198631,p.H320Y|uc022axp.1,p.H320Y|NM_001198625,p.H293Y|ENST00000523629,p.H320Y|NM_175635,p.H283Y|uc022axu.1,p.H300Y|uc010mao.3,p.H293Y|NM_175634,p.H320Y|NM_175636,p.H283Y|uc022axq.1,p.H320Y|uc022axo.1,p.H320Y|uc010mam.3,p.H293Y|NM_001198630,p.H320Y|uc003yfd.3,p.H320Y|ENST00000518844,p.H293Y|uc022axv.1,p.H320Y|ENST00000265814,p.H320Y|ENST00000436581,p.H331Y|NM_004349,p.H293Y|ENST00000360348,p.H283Y|NM_001198629,p.H320Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022axv.1	nonsynonymous SNV	exon7	c.C958T	p.H320Y	AHHYRDSYRHPSHRDLRDRNRPMGL	AHHYRDSYRHPSYRDLRDRNRPMGL	1.0	3.0	unscreened	-	2098_8:93003900-93003900 G>A_AHHYRDSYRHPSYRDLRDRNRPMGL
4:169204620-169204620 C>T	1.0	2098	MELANOMA	-	-	-	-	DDX60	uc003irp.3,p.G567R|NM_017631,p.G567R|ENST00000393743,p.G567R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003irp.3	nonsynonymous SNV	exon13	c.G1699A	p.G567R	VTQTIKSKKDFSGPKSKKAHETKAE	VTQTIKSKKDFSRPKSKKAHETKAE	7.0	4.0	unscreened	-	2098_4:169204620-169204620 C>T_VTQTIKSKKDFSRPKSKKAHETKAE
11:1629098-1629098 G>A	0.0	2098	MELANOMA	-	-	-	-	KRTAP5-3	uc001ltw.1,p.P173L|ENST00000399685,p.P173L|NM_001012708,p.P173L	protein_coding	uc001ltw.1	nonsynonymous SNV	exon1	c.C518T	p.P173L	CKPCCSQSSCCKPCCCSSGCGSSCC	CKPCCSQSSCCKLCCCSSGCGSSCC	1.0	5.0	unscreened	-	2098_11:1629098-1629098 G>A_CKPCCSQSSCCKLCCCSSGCGSSCC
1:152059329-152059329 C>T	0.0	2098	MELANOMA	0.0005	-	-	-	TCHHL1	NM_001008536,p.E277K|ENST00000368806,p.E277K|uc001ezo.1,p.E277K	protein_coding	uc001ezo.1	nonsynonymous SNV	exon3	c.G829A	p.E277K	PKEATQRPCEDQEVRTEKEKHSNIQ	PKEATQRPCEDQKVRTEKEKHSNIQ	1.0	7.0	unscreened	-	2098_1:152059329-152059329 C>T_PKEATQRPCEDQKVRTEKEKHSNIQ
18:44173595-44173595 A>C	0.0	2098	MELANOMA	-	-	-	-	LOXHD1	uc002lcg.1,p.W189G|ENST00000398722,p.W189G|uc010xcw.1,p.W467G|ENST00000536736,p.W467G|NM_144612,p.W467G|ENST00000441551,p.W467G	retained_intron, protein_coding, nonsense_mediated_decay	uc010xcw.1	nonsynonymous SNV	exon10	c.T1399G	p.W467G	RTDEILLNPNNKWFKPGIIEKFRIE	RTDEILLNPNNKGFKPGIIEKFRIE	1.0	7.0	unscreened	-	2098_18:44173595-44173595 A>C_RTDEILLNPNNKGFKPGIIEKFRIE
1:204438392-204438392 G>A	1.0	2098	MELANOMA	-	-	-	-	PIK3C2B	ENST00000424712,p.S180F|uc010pqv.2,p.S180F|uc001hax.1,p.S180F|uc001haw.3,p.S180F|NM_002646,p.S180F|ENST00000367187,p.S180F	protein_coding, processed_transcript	uc010pqv.2	nonsynonymous SNV	exon3	c.C539T	p.S180F	TPPLPPRKGSPSSSKISQPSDINTF	TPPLPPRKGSPSFSKISQPSDINTF	7.0	7.0	unscreened	-	2098_1:204438392-204438392 G>A_TPPLPPRKGSPSFSKISQPSDINTF
16:31540002-31540002 C>T	0.0	2098	MELANOMA	-	-	-	-	AHSP	NM_016633,p.P100L|uc002ecj.3,p.P100L|ENST00000302312,p.P100L	protein_coding, processed_transcript	uc002ecj.3	nonsynonymous SNV	exon3	c.C299T	p.P100L	FLKSHELPSHPPPSS	FLKSHELPSHPPLSS	1.0	3.0	unscreened	-	2098_16:31540002-31540002 C>T_FLKSHELPSHPPLSS
X:3238982-3238982 C>A	0.0	2098	MELANOMA	-	-	-	-	MXRA5	uc004crg.4,p.G1582C|ENST00000217939,p.G1582C|NM_015419,p.G1582C	protein_coding	uc004crg.4	nonsynonymous SNV	exon5	c.G4744T	p.G1582C	LSTKLELEKQVFGSRSLPRGPDSQR	LSTKLELEKQVFCSRSLPRGPDSQR	1.0	4.0	unscreened	-	2098_X:3238982-3238982 C>A_LSTKLELEKQVFCSRSLPRGPDSQR
13:72053415-72053415 C>G	0.0	2098	MELANOMA	-	-	-	-	DACH1	uc021rkj.1,p.A588P|ENST00000359684,p.A640P|ENST00000313174,p.A440P|uc021rkk.1,p.A440P|uc021rkl.1,p.A386P|ENST00000354591,p.A386P|ENST00000305425,p.A588P	protein_coding	uc021rkl.1	nonsynonymous SNV	exon4	c.G1156C	p.A386P	QGLLKVAIDNARAQEKQVQLEKTEL	QGLLKVAIDNARPQEKQVQLEKTEL	1.0	3.0	unscreened	-	2098_13:72053415-72053415 C>G_QGLLKVAIDNARPQEKQVQLEKTEL
X:54497843-54497843 C>T	1.0	2098	MELANOMA	-	-	-	-	FGD1	uc004dtg.3,p.G129S|ENST00000375135,p.G129S|NM_004463,p.G129S	protein_coding	uc004dtg.3	nonsynonymous SNV	exon2	c.G385A	p.G129S	LDPGQSLEPHPEGPQRLRSDPGPPT	LDPGQSLEPHPESPQRLRSDPGPPT	6.0	4.0	unscreened	-	2098_X:54497843-54497843 C>T_LDPGQSLEPHPESPQRLRSDPGPPT
2:171573384-171573384 C>T	0.0	2098	MELANOMA	-	-	-	-	SP5	ENST00000375281,p.P223S|NM_001003845,p.P223S|uc002uge.3,p.P223S	protein_coding, processed_transcript	uc002uge.3	nonsynonymous SNV	exon2	c.C667T	p.P223S	GACAGAPHAPRFPASAAAAAAAAAA	GACAGAPHAPRFSASAAAAAAAAAA	1.0	6.0	unscreened	-	2098_2:171573384-171573384 C>T_GACAGAPHAPRFSASAAAAAAAAAA
13:25745258-25745258 A>G	0.0	2098	MELANOMA	-	-	-	-	AMER2	NM_199138,p.L167P|uc001uqc.3,p.L167P|ENST00000515384,p.L167P|uc001uqa.3,p.L167P|ENST00000357816,p.L167P|uc001uqb.3,p.L167P|ENST00000381853,p.L167P|NM_152704,p.L167P	protein_coding	uc001uqc.3	nonsynonymous SNV	exon2	c.T500C	p.L167P	SSVAKSHSFFSLLKKNGRSENGKGE	SSVAKSHSFFSLPKKNGRSENGKGE	1.0	5.0	unscreened	-	2098_13:25745258-25745258 A>G_SSVAKSHSFFSLPKKNGRSENGKGE
4:75937761-75937761 C>T	0.0	2098	MELANOMA	-	-	-	-	PARM1	uc003hih.2,p.S57F|NM_015393,p.S57F|ENST00000307428,p.S57F	protein_coding	uc003hih.2	nonsynonymous SNV	exon2	c.C170T	p.S57F	SPQNTDADTASPSNGTHNNSVLPVT	SPQNTDADTASPFNGTHNNSVLPVT	1.0	7.0	unscreened	-	2098_4:75937761-75937761 C>T_SPQNTDADTASPFNGTHNNSVLPVT
6:94120882-94120882 C>T	0.0	2098	MELANOMA	-	-	-	2	EPHA7	ENST00000369297,p.E57K|uc011eac.2,p.E57K|NM_001288629,p.E57K|NM_001288630,p.E57K|uc003pog.4,p.E57K|NM_004440,p.E57K|ENST00000369303,p.E57K|uc003poe.3,p.E57K|uc003pof.3,p.E57K	protein_coding	uc011eac.2	nonsynonymous SNV	exon3	c.G169A	p.E57K	LEWISSPPNGWEEISGLDENYTPIR	LEWISSPPNGWEKISGLDENYTPIR	1.0	4.0	unscreened	-	2098_6:94120882-94120882 C>T_LEWISSPPNGWEKISGLDENYTPIR
1:247719747-247719747 A>G	0.0	2098	MELANOMA	-	-	-	-	GCSAML	ENST00000526896,p.N23S|NM_001281853,p.N23S|ENST00000366488,p.N23S|uc001idf.3,p.N23S|NM_145278,p.N23S	protein_coding, processed_transcript	uc001idf.3	nonsynonymous SNV	exon2	c.A68G	p.N23S	CLGENQKKPKKGNPDEERKRQEMTT	CLGENQKKPKKGSPDEERKRQEMTT	1.0	7.0	unscreened	-	2098_1:247719747-247719747 A>G_CLGENQKKPKKGSPDEERKRQEMTT
3:185431236-185431236 C>A	0.0	2098	MELANOMA	-	-	-	-	IGF2BP2-AS1	ENST00000456447,p.N7K|uc003fpr.2,p.N7K|ENST00000296270,p.N7K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003fpr.2	nonsynonymous SNV	exon1	c.C21A	p.N7K	MATPLDNCLRPFPDPMVKV	MATPLDKCLRPFPDPMVKV	3.0	3.0	unscreened	-	2098_3:185431236-185431236 C>A_MATPLDKCLRPFPDPMVKV
2:108626986-108626986 G>C	0.0	2098	MELANOMA	-	-	-	-	SLC5A7	uc010ywn.2,p.G358A|uc010ywm.2,p.G224A|uc002tdv.3,p.G471A|ENST00000409059,p.G471A|NM_021815,p.G471A|uc010fjj.3,p.G471A|ENST00000540517,p.G366A|ENST00000264047,p.G471A	protein_coding	uc010ywn.2	nonsynonymous SNV	exon8	c.G1073C	p.G358A	LIFYPGYYPDDNGIYNQKFPFKTLA	LIFYPGYYPDDNAIYNQKFPFKTLA	1.0	4.0	unscreened	-	2098_2:108626986-108626986 G>C_LIFYPGYYPDDNAIYNQKFPFKTLA
5:177548279-177548279 C>T	0.0	2098	MELANOMA	-	-	-	-	N4BP3	uc003mik.1,p.P345S|NM_015111,p.P345S|ENST00000274605,p.P345S	protein_coding	uc003mik.1	nonsynonymous SNV	exon4	c.C1033T	p.P345S	LRKELRAQQGLAPEPRAPGTLPEAD	LRKELRAQQGLASEPRAPGTLPEAD	1.0	4.0	unscreened	-	2098_5:177548279-177548279 C>T_LRKELRAQQGLASEPRAPGTLPEAD
11:6129011-6129011 G>A	0.0	2098	MELANOMA	-	-	-	-	OR56B4	uc010qzx.2,p.M1I|ENST00000316529,p.M1I|NM_001005181,p.M1I	protein_coding	uc010qzx.2	nonsynonymous SNV	exon1	c.G3A	p.M1I	MDTSTSVTYDSSL	IDTSTSVTYDSSL	1.0	5.0	unscreened	-	2098_11:6129011-6129011 G>A_IDTSTSVTYDSSL
X:36091288-36091288 G>A	0.0	2098	MELANOMA	-	-	ID=COSM256187;OCCURENCE=1(large_intestine)	-	CHDC2	NM_173695,p.D75N|ENST00000313548,p.D75N|uc004ddk.1,p.D75N|ENST00000378660,p.D75N	protein_coding	uc004ddk.1	nonsynonymous SNV	exon4	c.G223A	p.D75N	IGVEVLPENLHLDESETSEEDHGSL	IGVEVLPENLHLNESETSEEDHGSL	1.0	7.0	unscreened	-	2098_X:36091288-36091288 G>A_IGVEVLPENLHLNESETSEEDHGSL
11:65729402-65729402 G>A	1.0	2098	MELANOMA	-	-	-	-	SART1	uc009yqy.1,p.E51K|uc001ogl.3,p.E51K|ENST00000530251,p.E51K|NM_005146,p.E51K|ENST00000312397,p.E51K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009yqy.1	nonsynonymous SNV	exon1	c.G151A	p.E51K	KHRSGGSGGSGGERRKRSRERGGER	KHRSGGSGGSGGKRRKRSRERGGER	9.0	4.0	unscreened	-	2098_11:65729402-65729402 G>A_KHRSGGSGGSGGKRRKRSRERGGER
3:38835357-38835357 C>T	0.0	2098	MELANOMA	-	-	-	-	SCN10A	NM_006514,p.E49K|ENST00000449082,p.E49K|NM_001293307,p.E49K|uc003ciq.3,p.E49K|NM_001293306,p.E49K	protein_coding	uc003ciq.3	nonsynonymous SNV	exon1	c.G145A	p.E49K	AREKHREQKDQEEKPRPQLDLKACN	AREKHREQKDQEKKPRPQLDLKACN	1.0	7.0	unscreened	-	2098_3:38835357-38835357 C>T_AREKHREQKDQEKKPRPQLDLKACN
19:7937264-7937264 C>G	0.0	2098	MELANOMA	-	-	-	-	PRR36	ENST00000539422,p.R289T	protein_coding, processed_transcript	ENST00000539422	nonsynonymous SNV	exon5	c.G866C	p.R289T	LQALRPPQVTPPRKDAAPALGPLSS	LQALRPPQVTPPTKDAAPALGPLSS	4.0	4.0	unscreened	-	2098_19:7937264-7937264 C>G_LQALRPPQVTPPTKDAAPALGPLSS
19:7937263-7937263 C>G	0.0	2098	MELANOMA	-	-	-	-	PRR36	ENST00000539422,p.R289S	protein_coding, processed_transcript	ENST00000539422	nonsynonymous SNV	exon5	c.G867C	p.R289S	LQALRPPQVTPPRKDAAPALGPLSS	LQALRPPQVTPPSKDAAPALGPLSS	4.0	4.0	unscreened	-	2098_19:7937263-7937263 C>G_LQALRPPQVTPPSKDAAPALGPLSS
19:56733541-56733541 T>A	1.0	2098	MELANOMA	-	-	-	-	ZSCAN5A	uc002qms.1,p.K297N|ENST00000587492,p.K152N|NM_024303,p.K298N|ENST00000593106,p.K152N|ENST00000592355,p.K297N|ENST00000391713,p.K298N|ENST00000587340,p.K298N|uc002qmq.3,p.K298N|ENST00000254165,p.K181N|uc002qmr.3,p.K298N|uc010ygi.2,p.K181N	retained_intron, protein_coding, processed_transcript	uc010ygi.2	nonsynonymous SNV	exon5	c.A543T	p.K181N	GNRGDALNLSSPKRSKPDASSISQE	GNRGDALNLSSPNRSKPDASSISQE	6.0	7.0	unscreened	-	2098_19:56733541-56733541 T>A_GNRGDALNLSSPNRSKPDASSISQE
17:39185972-39185972 G>A	0.0	2098	MELANOMA	-	-	-	-	KRTAP1-4	ENST00000377747,p.T120I|uc031raf.1,p.T120I|NM_001257305,p.T120I	protein_coding	uc031raf.1	nonsynonymous SNV	exon1	c.C359T	p.T120I	CRPACCCHCCEPTC	CRPACCCHCCEPIC	1.0	3.0	unscreened	-	2098_17:39185972-39185972 G>A_CRPACCCHCCEPIC
19:43575995-43575995 G>C	0.0	2098	MELANOMA	-	-	-	-	PSG2	uc002ovr.3,p.T274R|ENST00000406487,p.T274R|NM_031246,p.T274R	protein_coding, processed_transcript	uc002ovr.3	nonsynonymous SNV	exon4	c.C821G	p.T274R	FANSNPPAQYSWTINGKFQQSGQNL	FANSNPPAQYSWRINGKFQQSGQNL	1.0	6.0	unscreened	-	2098_19:43575995-43575995 G>C_FANSNPPAQYSWRINGKFQQSGQNL
12:52307016-52307016 A>C	0.0	2098	MELANOMA	-	-	-	-	ACVRL1	ENST00000547400,p.E79D|uc021qxz.1,p.E65D|NM_000020,p.E65D|ENST00000550683,p.E79D|ENST00000551576,p.E65D|uc001rzk.3,p.E65D|ENST00000388922,p.E65D|NM_001077401,p.E65D|uc001rzj.3,p.E65D	retained_intron, protein_coding, processed_transcript	uc021qxz.1	nonsynonymous SNV	exon4	c.A195C	p.E65D	VVLVREEGRHPQEHRGCGNLHRELC	VVLVREEGRHPQDHRGCGNLHRELC	1.0	4.0	unscreened	-	2098_12:52307016-52307016 A>C_VVLVREEGRHPQDHRGCGNLHRELC
8:56866459-56866459 G>A	0.0	2098	MELANOMA	-	-	-	-	LYN	NM_002350,p.D236N|NM_001111097,p.D215N|uc003xsl.4,p.D215N|uc003xsk.4,p.D236N|ENST00000520220,p.D215N|ENST00000519728,p.D236N	protein_coding, processed_transcript	uc003xsl.4	nonsynonymous SNV	exon8	c.G643A	p.D215N	KACISPKPQKPWDKDAWEIPRESIK	KACISPKPQKPWNKDAWEIPRESIK	3.0	5.0	unscreened	-	2098_8:56866459-56866459 G>A_KACISPKPQKPWNKDAWEIPRESIK
1:152282704-152282704 C>T	0.0	2098	MELANOMA	-	-	-	-	FLG	NM_002016,p.G1553D|ENST00000368799,p.G1553D|uc001ezu.1,p.G1553D	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.G4658A	p.G1553D	SRQTRNEEQSGDGSRHSGSRHHEPS	SRQTRNEEQSGDDSRHSGSRHHEPS	5.0	6.0	unscreened	-	2098_1:152282704-152282704 C>T_SRQTRNEEQSGDDSRHSGSRHHEPS
11:100933480-100933480 C>T	0.0	2098	MELANOMA	-	-	-	-	PGR	uc001pgg.2,p.R18Q	retained_intron, protein_coding, nonsense_mediated_decay	uc001pgg.2	nonsynonymous SNV	exon1	c.G53A	p.R18Q	IYMNFFFFFSVGRKFKKFNKVRVVR	IYMNFFFFFSVGQKFKKFNKVRVVR	1.0	6.0	unscreened	-	2098_11:100933480-100933480 C>T_IYMNFFFFFSVGQKFKKFNKVRVVR
1:237961451-237961451 G>C	0.0	2098	MELANOMA	-	-	-	-	RYR2	uc001hyl.1,p.D4691H|ENST00000542537,p.D4675H|ENST00000366574,p.D4691H|NM_001035,p.D4691H|ENST00000360064,p.D4697H|uc010pyb.1,p.D124H	protein_coding, processed_transcript	uc010pyb.1	nonsynonymous SNV	exon5	c.G370C	p.D124H	FSDAREKKKPKKDSSLSAVLNSIDV	FSDAREKKKPKKHSSLSAVLNSIDV	5.0	5.0	unscreened	-	2098_1:237961451-237961451 G>C_FSDAREKKKPKKHSSLSAVLNSIDV
X:83128083-83128083 G>A	0.0	2098	MELANOMA	-	-	-	-	CYLC1	NM_021118,p.G123R|uc004eeh.2,p.G122R|uc004eei.2,p.G123R|ENST00000329312,p.G123R	protein_coding	uc004eei.2	nonsynonymous SNV	exon4	c.G367A	p.G123R	KKAEYKKSKDEKGGTPLKKDSKKKG	KKAEYKKSKDEKRGTPLKKDSKKKG	1.0	6.0	unscreened	-	2098_X:83128083-83128083 G>A_KKAEYKKSKDEKRGTPLKKDSKKKG
11:100933480-100933480 C>T	0.0	2098	MELANOMA	-	-	-	-	PGR	NM_001202474,p.R473Q|uc001pgh.2,p.R637Q|NM_001271162,p.R43Q|uc031qdi.1,p.R43Q|ENST00000534013,p.R43Q|ENST00000534780,p.R637Q|NM_000926,p.R637Q|ENST00000325455,p.R637Q	retained_intron, protein_coding, nonsense_mediated_decay	uc031qdi.1	nonsynonymous SNV	exon4	c.G128A	p.R43Q	RKCCQAGMVLGGRKFKKFNKVRVVR	RKCCQAGMVLGGQKFKKFNKVRVVR	1.0	6.0	unscreened	-	2098_11:100933480-100933480 C>T_RKCCQAGMVLGGQKFKKFNKVRVVR
6:117047682-117047682 C>T	0.0	2224	MELANOMA	-	-	ID=COSM109477;OCCURENCE=1(skin)	-	KPNA5	uc003pxh.3,p.P384S|NM_002269,p.P384S|ENST00000368564,p.P384S|ENST00000356348,p.P384S	protein_coding	uc003pxh.3	nonsynonymous SNV	exon12	c.C1150T	p.P384S	AQIQAVIDANIFPVLIEILQKAEFR	AQIQAVIDANIFSVLIEILQKAEFR	6.0	9.0	CD8	-	2224_6:117047682-117047682 C>T_AQIQAVIDANIFSVLIEILQKAEFR
2:69330072-69330072 A>T	0.0	2224	MELANOMA	-	-	-	-	ANTXR1	NM_018153,p.N268Y|uc002sff.3,p.N268Y|uc002sfe.3,p.N268Y|NM_032208,p.N268Y|ENST00000409349,p.N268Y|ENST00000409829,p.N268Y|ENST00000303714,p.N268Y|uc002sfg.3,p.N268Y|NM_053034,p.N268Y	retained_intron, protein_coding	uc002sfg.3	nonsynonymous SNV	exon10	c.A802T	p.N268Y	LCSFKINDSVTLNEKPFSVEDTYLL	LCSFKINDSVTLYEKPFSVEDTYLL	9.0	4.0	unscreened	-	2224_2:69330072-69330072 A>T_LCSFKINDSVTLYEKPFSVEDTYLL
3:47307328-47307328 T>C	0.0	2224	MELANOMA	-	-	ID=COSM109365;OCCURENCE=1(skin)	-	KIF9	uc010hjp.3,p.K270E|uc003cqy.3,p.K270E|ENST00000444589,p.K270E|ENST00000265529,p.K270E|uc003cqx.3,p.K270E|ENST00000352910,p.K177E|NM_001134878,p.K270E|NM_182902,p.K270E|NM_022342,p.K270E|ENST00000452770,p.K270E|ENST00000443784,p.K270E|ENST00000335044,p.K270E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hjp.3	nonsynonymous SNV	exon9	c.A808G	p.K270E	EGQVLKEATYINKSLSFLEQAIIAL	EGQVLKEATYINESLSFLEQAIIAL	6.0	6.0	unscreened	-	2224_3:47307328-47307328 T>C_EGQVLKEATYINESLSFLEQAIIAL
13:39588310-39588310 G>A	0.0	2224	MELANOMA	-	-	ID=COSM108403;OCCURENCE=1(skin)	-	PROSER1	uc001uwy.4,p.S360F|ENST00000350125,p.S338F|NM_025138,p.S360F|ENST00000352251,p.S360F	protein_coding, processed_transcript	uc001uwy.4	nonsynonymous SNV	exon11	c.C1079T	p.S360F	TSIHSTTTTPVPSIFSGLVSLPGPS	TSIHSTTTTPVPFIFSGLVSLPGPS	7.0	3.0	unscreened	-	2224_13:39588310-39588310 G>A_TSIHSTTTTPVPFIFSGLVSLPGPS
14:76438038-76438038 C>T	0.0	2224	MELANOMA	-	-	ID=COSM106991;OCCURENCE=1(skin)	-	TGFB3	uc001xsd.3,p.G124R|ENST00000238682,p.G126R|NM_003239,p.G126R|uc001xsc.2,p.G126R|ENST00000556285,p.G126R	retained_intron, protein_coding, processed_transcript	uc001xsd.3	nonsynonymous SNV	exon2	c.G370A	p.G124R	LAEHNELAVCPKGITSKVFRFNVSS	LAEHNELAVCPKRITSKVFRFNVSS	7.0	9.0	unscreened	-	2224_14:76438038-76438038 C>T_LAEHNELAVCPKRITSKVFRFNVSS
12:67699679-67699679 C>T	0.0	2224	MELANOMA	-	-	ID=COSM107404;OCCURENCE=1(skin)	-	CAND1	uc001sto.2,p.S254L|NM_018448,p.S744L|uc001stn.2,p.S744L|ENST00000544619,p.S284L|ENST00000545606,p.S744L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sto.2	nonsynonymous SNV	exon4	c.C761T	p.S254L	GSILNELIGLVRSPLLQGGALSAML	GSILNELIGLVRLPLLQGGALSAML	9.0	9.0	unscreened	-	2224_12:67699679-67699679 C>T_GSILNELIGLVRLPLLQGGALSAML
1:9804656-9804656 G>A	0.0	2224	MELANOMA	-	-	ID=COSM109342;OCCURENCE=1(skin)	-	CLSTN1	ENST00000361311,p.S334F|uc001aqh.3,p.S344F|ENST00000377288,p.S344F|uc010oag.2,p.S344F|NM_014944,p.S334F|ENST00000377298,p.S344F|NM_001009566,p.S344F|uc001aqi.3,p.S334F|ENST00000435891,p.S164F	protein_coding, processed_transcript	uc010oag.2	nonsynonymous SNV	exon8	c.C1031T	p.S344F	AGTAELLPSPSGSLNWTMGLPTDNG	AGTAELLPSPSGFLNWTMGLPTDNG	10.0	9.0	unscreened	-	2224_1:9804656-9804656 G>A_AGTAELLPSPSGFLNWTMGLPTDNG
6:31239776-31239776 A>C	0.0	2224	MELANOMA	0.32	-	-	-	HLA-C	NM_001243042,p.C25G|ENST00000376237,p.C25G|uc003nsy.3,p.C25G|ENST00000376228,p.C25G|ENST00000383329,p.C25G|NM_002117,p.C25G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003nsy.3	nonsynonymous SNV	exon1	c.T73G	p.C25G	LSGGLALTETWACSHSMRYFDTAVS	LSGGLALTETWAGSHSMRYFDTAVS	10.0	7.0	unscreened	-	2224_6:31239776-31239776 A>C_LSGGLALTETWAGSHSMRYFDTAVS
13:39587956-39587956 G>A	0.0	2224	MELANOMA	-	-	ID=COSM109428;OCCURENCE=1(skin)	-	PROSER1	NM_025138,p.S478F|uc001uwy.4,p.S478F|ENST00000352251,p.S478F|ENST00000350125,p.S456F	protein_coding, processed_transcript	uc001uwy.4	nonsynonymous SNV	exon11	c.C1433T	p.S478F	SPLLSALKGFLTSNDTNLINSSALS	SPLLSALKGFLTFNDTNLINSSALS	7.0	7.0	unscreened	-	2224_13:39587956-39587956 G>A_SPLLSALKGFLTFNDTNLINSSALS
9:135979699-135979699 G>A	0.0	2224	MELANOMA	-	-	-	2	RALGDS	uc004ccr.3,p.A540V|uc004cco.4,p.A541V|ENST00000424572,p.A101V|ENST00000393160,p.A486V|NM_006266,p.A541V|uc004ccv.1,p.A310V|uc011mcv.3,p.A512V|ENST00000372050,p.A541V|ENST00000372047,p.A529V|ENST00000542690,p.A612V|ENST00000372062,p.A512V|uc004ccu.1,p.A310V|uc004ccq.4,p.A529V|uc004ccs.4,p.A486V|NM_001271776,p.A529V|NM_001271775,p.A540V|NM_001042368,p.A486V|NM_001271774,p.A512V|ENST00000393157,p.A540V|uc011mcw.2,p.A612V	protein_coding, processed_transcript	uc011mcw.2	nonsynonymous SNV	exon15	c.C1835T	p.A612V	RELLIKEGTSKFATLEMNPKRAQKR	RELLIKEGTSKFVTLEMNPKRAQKR	9.0	1.0	unscreened	-	2224_9:135979699-135979699 G>A_RELLIKEGTSKFVTLEMNPKRAQKR
1:94508341-94508341 C>T	0.0	2224	MELANOMA	-	-	ID=COSM109399;OCCURENCE=1(skin)	-	ABCA4	NM_000350,p.D1102N|ENST00000370225,p.D1102N|uc001dqh.3,p.D1102N	protein_coding, processed_transcript	uc001dqh.3	nonsynonymous SNV	exon22	c.G3304A	p.D1102N	SGVDPYSRRSIWDLLLKYRSGRTII	SGVDPYSRRSIWNLLLKYRSGRTII	2.0	7.0	unscreened	-	2224_1:94508341-94508341 C>T_SGVDPYSRRSIWNLLLKYRSGRTII
7:23825196-23825196 G>A	0.0	2224	MELANOMA	-	-	ID=COSM106988;OCCURENCE=1(skin)	-	STK31	ENST00000355870,p.V750I|uc011jze.3,p.V750I|NM_032944,p.V727I|uc031swr.1,p.V727I|ENST00000354639,p.V727I|uc010kuq.4,p.V727I|uc003swt.5,p.V727I|NM_001260504,p.V727I|ENST00000428484,p.V727I|NM_031414,p.V750I|uc003sws.5,p.V750I|ENST00000433467,p.V750I|NM_001260505,p.V750I	retained_intron, protein_coding, processed_transcript	uc031swr.1	nonsynonymous SNV	exon18	c.G2179A	p.V727I	ELSSKRPLVRSEVNGQIILLKGYSV	ELSSKRPLVRSEINGQIILLKGYSV	1.0	2.0	unscreened	-	2224_7:23825196-23825196 G>A_ELSSKRPLVRSEINGQIILLKGYSV
19:10823888-10823888 C>T	0.0	2224	MELANOMA	-	-	ID=COSM106860;OCCURENCE=1(skin)	-	QTRT1	ENST00000592376,p.T118I|ENST00000250237,p.T385I|uc002mpr.3,p.T385I|NM_031209,p.T385I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mpr.3	nonsynonymous SNV	exon10	c.C1154T	p.T385I	VRDFMGAMYGDPTLCPTWATDALAS	VRDFMGAMYGDPILCPTWATDALAS	9.0	4.0	unscreened	-	2224_19:10823888-10823888 C>T_VRDFMGAMYGDPILCPTWATDALAS
1:26080038-26080038 G>A	0.0	2224	MELANOMA	-	-	ID=COSM108956;OCCURENCE=1(skin)	-	MAN1C1	NM_020379,p.G300R|uc009vry.1,p.G120R|ENST00000374332,p.G300R|ENST00000263979,p.G120R|ENST00000374329,p.G71R|uc001bkm.2,p.G300R|NM_001289010,p.G300R	protein_coding, processed_transcript	uc009vry.1	nonsynonymous SNV	exon6	c.G358A	p.G120R	GEKLLPAFNTPTGIPKGVVSFKSGN	GEKLLPAFNTPTRIPKGVVSFKSGN	6.0	8.0	unscreened	-	2224_1:26080038-26080038 G>A_GEKLLPAFNTPTRIPKGVVSFKSGN
3:119905543-119905543 G>A	0.0	2224	MELANOMA	-	-	-	-	GPR156	ENST00000315843,p.P188S|NM_153002,p.P188S|ENST00000464295,p.P188S|uc011bjf.2,p.P188S	retained_intron, protein_coding, nonsense_mediated_decay	uc011bjf.2	nonsynonymous SNV	exon5	c.C562T	p.P188S	DVILLMTWVLTDPIQCLQILSVSMT	DVILLMTWVLTDSIQCLQILSVSMT	2.0	9.0	unscreened	-	2224_3:119905543-119905543 G>A_DVILLMTWVLTDSIQCLQILSVSMT
3:119905543-119905543 G>A	0.0	2224	MELANOMA	-	-	-	-	GPR156	ENST00000461057,p.P188S|uc011bjg.2,p.P188S|NM_001168271,p.P188S	retained_intron, protein_coding, nonsense_mediated_decay	uc011bjg.2	nonsynonymous SNV	exon5	c.C562T	p.P188S	DVILLMTWVLTDPIQCLQILSVTGK	DVILLMTWVLTDSIQCLQILSVTGK	2.0	9.0	unscreened	-	2224_3:119905543-119905543 G>A_DVILLMTWVLTDSIQCLQILSVTGK
14:51206177-51206177 G>A	0.0	2224	MELANOMA	-	-	ID=COSM108757;OCCURENCE=1(skin)	1	NIN	uc001wyo.3,p.P1826L|ENST00000382041,p.P1826L|NM_182946,p.P1826L|ENST00000530997,p.P1826L|uc001wym.2,p.P1826L|NM_020921,p.P1826L|ENST00000476352,p.P1826L|ENST00000389868,p.P1113L|NM_182944,p.P1826L|NM_016350,p.P1113L|ENST00000382043,p.P1113L|ENST00000324330,p.P1826L|ENST00000245441,p.P1826L|uc001wyk.3,p.P1113L|ENST00000453196,p.P1826L|uc001wyi.3,p.P1826L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wyo.3	nonsynonymous SNV	exon26	c.C5477T	p.P1826L	GGKSWAPEIATHPSGLHNQQKRLSW	GGKSWAPEIATHLSGLHNQQKRLSW	9.0	2.0	unscreened	-	2224_14:51206177-51206177 G>A_GGKSWAPEIATHLSGLHNQQKRLSW
18:54398772-54398772 C>T	0.0	2224	MELANOMA	-	-	ID=COSM107251;OCCURENCE=1(skin)	-	WDR7	ENST00000587403,p.H47Y|ENST00000585824,p.H47Y|ENST00000254442,p.H645Y|NM_015285,p.H645Y|NM_052834,p.H645Y|ENST00000590557,p.H66Y|uc002lgk.1,p.H645Y|uc002lgl.1,p.H645Y|ENST00000357574,p.H645Y	retained_intron, protein_coding, nonsense_mediated_decay	uc002lgl.1	nonsynonymous SNV	exon14	c.C1933T	p.H645Y	TRRSLAALKNMAHHKLQTLATNLLA	TRRSLAALKNMAYHKLQTLATNLLA	7.0	3.0	unscreened	-	2224_18:54398772-54398772 C>T_TRRSLAALKNMAYHKLQTLATNLLA
19:18329157-18329157 G>A	0.0	2224	MELANOMA	-	-	ID=COSM109526;OCCURENCE=1(skin)	-	PDE4C	NM_001098819,p.T300M|NM_001098818,p.T374M|NM_000923,p.T406M|ENST00000594465,p.T406M|uc002nil.4,p.T406M|ENST00000594617,p.T406M|uc002nik.4,p.T406M|uc002nif.4,p.T175M|uc002nii.4,p.T374M|ENST00000262805,p.T374M|ENST00000539010,p.T175M|ENST00000447275,p.T300M|uc010ebl.3,p.T120M|ENST00000355502,p.T406M|uc002nih.4,p.T176M|uc010xqc.2,p.T406M|uc010ebk.3,p.T300M	retained_intron, protein_coding, processed_transcript	uc010xqc.2	nonsynonymous SNV	exon10	c.C1217T	p.T406M	ADVAQSTHVLLATPALEAVFTDLEI	ADVAQSTHVLLAMPALEAVFTDLEI	3.0	9.0	unscreened	-	2224_19:18329157-18329157 G>A_ADVAQSTHVLLAMPALEAVFTDLEI
5:112889679-112889679 A>G	0.0	2224	MELANOMA	-	-	ID=COSM106507;OCCURENCE=1(skin)	-	YTHDC2	uc010jce.2,p.N698S|uc010jcf.2,p.N398S|ENST00000161863,p.N698S|uc003kqn.3,p.N698S|NM_022828,p.N698S|ENST00000515883,p.N698S	retained_intron, protein_coding, nonsense_mediated_decay	uc010jcf.2	nonsynonymous SNV	exon14	c.A1193G	p.N398S	LSTNIAETSITVNDVVFVIDSGKVK	LSTNIAETSITVSDVVFVIDSGKVK	6.0	7.0	unscreened	-	2224_5:112889679-112889679 A>G_LSTNIAETSITVSDVVFVIDSGKVK
1:90179730-90179730 C>T	0.0	2224	MELANOMA	-	-	ID=COSM110530;OCCURENCE=1(endometrium),1(skin)	-	LRRC8C	NM_032270,p.T534I|ENST00000370454,p.T534I|uc001dnl.4,p.T534I	protein_coding, processed_transcript, nonsense_mediated_decay	uc001dnl.4	nonsynonymous SNV	exon3	c.C1601T	p.T534I	VGSLSHDISRNVTLESLRDLKSLKI	VGSLSHDISRNVILESLRDLKSLKI	6.0	6.0	unscreened	-	2224_1:90179730-90179730 C>T_VGSLSHDISRNVILESLRDLKSLKI
3:113383180-113383180 T>A	0.0	2224	MELANOMA	-	-	ID=COSM108582;OCCURENCE=1(skin)	-	KIAA2018	ENST00000491165,p.N79I	retained_intron, protein_coding	ENST00000491165	nonsynonymous SNV	exon6	c.A236T	p.N79I	TELKRQNDELLLNGGNNEQGFY	TELKRQNDELLLIGGNNEQGFY	6.0	2.0	unscreened	-	2224_3:113383180-113383180 T>A_TELKRQNDELLLIGGNNEQGFY
9:136501831-136501831 C>T	0.0	2224	MELANOMA	-	-	-	-	DBH	ENST00000263611,p.A99V	protein_coding	ENST00000263611	nonsynonymous SNV	exon1	c.C296T	p.A99V	VVLWTDGDTAYFADGTVHLVYGILE	VVLWTDGDTAYFVDGTVHLVYGILE	1.0	1.0	unscreened	-	2224_9:136501831-136501831 C>T_VVLWTDGDTAYFVDGTVHLVYGILE
16:7680608-7680608 C>T	0.0	2224	MELANOMA	-	-	ID=COSM3932451,COSM107776,COSM1749792,COSM1749791;OCCURENCE=1(skin),2(urinary_tract)	-	RBFOX1	uc002cyy.2,p.T247M|uc002cyx.2,p.T247M|ENST00000547338,p.T227M|uc010uyb.1,p.T227M|uc010buf.1,p.T227M|NM_145891,p.T247M|ENST00000550418,p.T227M|NM_145893,p.T247M|ENST00000547605,p.T226M|uc002cyv.1,p.T227M|ENST00000551752,p.T227M|uc010uxz.1,p.T270M|uc002cys.2,p.T227M|uc002cyw.2,p.T247M|ENST00000552089,p.T244M|ENST00000355637,p.T247M|ENST00000436368,p.T247M|NM_001142334,p.T227M|uc002cyr.1,p.T226M|NM_018723,p.T227M|ENST00000535565,p.T184M|uc010uya.1,p.T184M|ENST00000311745,p.T247M|ENST00000547372,p.T270M|ENST00000340209,p.T232M|NM_145892,p.T247M|ENST00000422070,p.T270M	retained_intron, protein_coding, processed_transcript	uc010uyb.1	nonsynonymous SNV	exon9	c.C680T	p.T227M	VGAVYSPEFYAGTVLLCQANQEGSS	VGAVYSPEFYAGMVLLCQANQEGSS	1.0	8.0	unscreened	-	2224_16:7680608-7680608 C>T_VGAVYSPEFYAGMVLLCQANQEGSS
3:193039580-193039580 G>A	0.0	2224	MELANOMA	-	-	ID=COSM107596;OCCURENCE=1(skin)	-	ATP13A5	uc011bsq.2,p.S602L|ENST00000342358,p.S602L|NM_198505,p.S602L	retained_intron, protein_coding, processed_transcript	uc011bsq.2	nonsynonymous SNV	exon16	c.C1805T	p.S602L	EAIITLCQFPFSSSLQRMSVIAQLA	EAIITLCQFPFSLSLQRMSVIAQLA	1.0	6.0	unscreened	-	2224_3:193039580-193039580 G>A_EAIITLCQFPFSLSLQRMSVIAQLA
12:11175010-11175010 G>A	0.0	2224	MELANOMA	-	-	ID=COSM106796;OCCURENCE=1(skin)	-	TAS2R19	NM_176888,p.S54F|uc010shj.2,p.S54F|ENST00000390673,p.S54F	protein_coding	uc010shj.2	nonsynonymous SNV	exon1	c.C161T	p.S54F	SSAEQILTALVVSRIGLLWVMLFLW	SSAEQILTALVVFRIGLLWVMLFLW	3.0	9.0	unscreened	-	2224_12:11175010-11175010 G>A_SSAEQILTALVVFRIGLLWVMLFLW
3:113383180-113383180 T>A	0.0	2224	MELANOMA	-	-	ID=COSM108582;OCCURENCE=1(skin)	-	KIAA2018	NM_001009899,p.N79I|uc003eal.3,p.N23I|uc003eam.3,p.N79I|ENST00000478658,p.N79I|ENST00000316407,p.N79I	retained_intron, protein_coding	uc003eam.3	nonsynonymous SNV	exon6	c.A236T	p.N79I	TELKRQNDELLLNGGNNEQAEEIKK	TELKRQNDELLLIGGNNEQAEEIKK	6.0	2.0	unscreened	-	2224_3:113383180-113383180 T>A_TELKRQNDELLLIGGNNEQAEEIKK
1:186063482-186063482 A>G	0.0	2224	MELANOMA	-	-	ID=COSM108371;OCCURENCE=1(skin)	-	HMCN1	uc001grq.1,p.K3424R|ENST00000367492,p.K3424R|NM_031935,p.K3424R|ENST00000271588,p.K3424R	protein_coding, processed_transcript	uc001grq.1	nonsynonymous SNV	exon67	c.A10271G	p.K3424R	TCVASNRAGVDNKHYNLQVFAPPNM	TCVASNRAGVDNRHYNLQVFAPPNM	9.0	8.0	unscreened	-	2224_1:186063482-186063482 A>G_TCVASNRAGVDNRHYNLQVFAPPNM
17:58988043-58988043 G>A	0.0	2224	MELANOMA	-	-	ID=COSM109979;OCCURENCE=1(skin)	-	BCAS3	uc002iyv.4,p.E325K|ENST00000589222,p.E325K|uc002iyy.4,p.E96K|ENST00000407086,p.E325K|uc002iyx.1,p.E140K|ENST00000390652,p.E325K|NM_001099432,p.E325K|uc002iyu.4,p.E325K|uc010wow.1,p.E112K|ENST00000590128,p.E96K|ENST00000588874,p.E96K|ENST00000408905,p.E325K|ENST00000586484,p.E96K|uc002iyw.4,p.E321K|ENST00000585744,p.E96K|ENST00000586705,p.E96K|NM_017679,p.E325K|ENST00000588462,p.E325K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wow.1	nonsynonymous SNV	exon5	c.G334A	p.E112K	PLVPGIITVIDTETVGEGQVLVSED	PLVPGIITVIDTKTVGEGQVLVSED	9.0	7.0	unscreened	-	2224_17:58988043-58988043 G>A_PLVPGIITVIDTKTVGEGQVLVSED
14:51206178-51206178 G>A	0.0	2224	MELANOMA	-	-	ID=COSM107944;OCCURENCE=1(skin)	1	NIN	NM_182944,p.P1826S|NM_016350,p.P1113S|ENST00000389868,p.P1113S|ENST00000324330,p.P1826S|ENST00000530997,p.P1826S|NM_182946,p.P1826S|uc001wym.2,p.P1826S|ENST00000382041,p.P1826S|ENST00000245441,p.P1826S|uc001wyk.3,p.P1113S|uc001wyo.3,p.P1826S|NM_020921,p.P1826S|ENST00000453196,p.P1826S|ENST00000382043,p.P1113S|ENST00000476352,p.P1826S|uc001wyi.3,p.P1826S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wyo.3	nonsynonymous SNV	exon26	c.C5476T	p.P1826S	GGKSWAPEIATHPSGLHNQQKRLSW	GGKSWAPEIATHSSGLHNQQKRLSW	9.0	2.0	unscreened	-	2224_14:51206178-51206178 G>A_GGKSWAPEIATHSSGLHNQQKRLSW
19:7743386-7743386 C>T	0.0	2224	MELANOMA	-	-	ID=COSM107267;OCCURENCE=1(skin)	-	MCEMP1	NM_174918,p.S128F|ENST00000333598,p.S128F|uc002mhh.1,p.S128F|ENST00000597445,p.S85F	retained_intron, protein_coding	uc002mhh.1	nonsynonymous SNV	exon5	c.C383T	p.S128F	LGFKRELWNVSNSVQACEERQKRGW	LGFKRELWNVSNFVQACEERQKRGW	2.0	3.0	unscreened	-	2224_19:7743386-7743386 C>T_LGFKRELWNVSNFVQACEERQKRGW
X:55185632-55185632 C>A	0.0	2224	MELANOMA	-	-	ID=COSM2155364,COSM2155363;OCCURENCE=1(central_nervous_system)	-	FAM104B	ENST00000489298,p.G16V|uc022bxm.1,p.G16V|NM_001166703,p.G16V	protein_coding, processed_transcript	uc022bxm.1	nonsynonymous SNV	exon2	c.G47T	p.G16V	LWLKRRRNGSKEGNHHSTQPKRNKR	LWLKRRRNGSKEVNHHSTQPKRNKR	8.0	1.0	unscreened	-	2224_X:55185632-55185632 C>A_LWLKRRRNGSKEVNHHSTQPKRNKR
X:55185632-55185632 C>A	0.0	2224	MELANOMA	-	-	ID=COSM2155364,COSM2155363;OCCURENCE=1(central_nervous_system)	-	FAM104B	NM_001166702,p.G14V|ENST00000477847,p.G14V|uc022bxn.1,p.G14V	protein_coding, processed_transcript	uc022bxn.1	nonsynonymous SNV	exon2	c.G41T	p.G14V	TCRKRRRNGSKEGNHHSTQPKRNKR	TCRKRRRNGSKEVNHHSTQPKRNKR	8.0	1.0	unscreened	-	2224_X:55185632-55185632 C>A_TCRKRRRNGSKEVNHHSTQPKRNKR
X:55185632-55185632 C>A	0.0	2224	MELANOMA	-	-	ID=COSM2155364,COSM2155363;OCCURENCE=1(central_nervous_system)	-	FAM104B	NM_001166699,p.G17V|ENST00000332132,p.G17V|uc022bxo.1,p.G17V|uc022bxp.1,p.G17V|NM_001166704,p.G17V|NM_001166700,p.G17V|uc004dug.2,p.G17V|ENST00000472571,p.G17V|ENST00000425133,p.G17V|ENST00000358460,p.G17V|NM_001166701,p.G17V|uc004duh.2,p.G17V|uc004dui.4,p.G17V|NM_138362,p.G17V	protein_coding, processed_transcript	uc022bxp.1	nonsynonymous SNV	exon2	c.G50T	p.G17V	PVRKRRRNGSKEGNHHSTQPKRNKR	PVRKRRRNGSKEVNHHSTQPKRNKR	8.0	1.0	unscreened	-	2224_X:55185632-55185632 C>A_PVRKRRRNGSKEVNHHSTQPKRNKR
12:52946704-52946704 C>T	0.0	2224	MELANOMA	-	-	ID=COSM107355;OCCURENCE=1(skin)	-	KRT71	uc001sao.3,p.G53D|ENST00000267119,p.G53D|NM_033448,p.G53D	protein_coding	uc001sao.3	nonsynonymous SNV	exon1	c.G158A	p.G53D	GGFGSRSLYSLGGVRSLNVASGSGK	GGFGSRSLYSLGDVRSLNVASGSGK	1.0	5.0	unscreened	-	2224_12:52946704-52946704 C>T_GGFGSRSLYSLGDVRSLNVASGSGK
7:143141184-143141184 G>A	0.0	2224	MELANOMA	-	-	ID=COSM108043;OCCURENCE=2(skin)	-	TAS2R60	ENST00000332690,p.M213I|NM_177437,p.M213I|uc011ktg.2,p.M213I	protein_coding	uc011ktg.2	nonsynonymous SNV	exon1	c.G639A	p.M213I	TWTMPTAVFFICMILLITSLGRHRK	TWTMPTAVFFICIILLITSLGRHRK	1.0	8.0	unscreened	-	2224_7:143141184-143141184 G>A_TWTMPTAVFFICIILLITSLGRHRK
20:31607401-31607401 C>T	0.0	2224	MELANOMA	-	-	ID=COSM109149;OCCURENCE=2(skin)	-	BPIFB2	ENST00000170150,p.P309S|NM_025227,p.P309S|uc002wyj.4,p.P309S	protein_coding	uc002wyj.4	nonsynonymous SNV	exon11	c.C925T	p.P309S	LGRLIPEVARQFPEPMPVVLKVRLG	LGRLIPEVARQFSEPMPVVLKVRLG	1.0	2.0	unscreened	-	2224_20:31607401-31607401 C>T_LGRLIPEVARQFSEPMPVVLKVRLG
17:7689494-7689494 C>T	0.0	2224	MELANOMA	-	-	ID=COSM108081;OCCURENCE=1(skin)	-	DNAH2	ENST00000572933,p.P2061L|NM_020877,p.P2061L|uc002giu.1,p.P2061L|ENST00000389173,p.P2061L	retained_intron, protein_coding, nonsense_mediated_decay	uc002giu.1	nonsynonymous SNV	exon39	c.C6182T	p.P2061L	EQEIRDMGLQSTPFTLTKVFQLYET	EQEIRDMGLQSTLFTLTKVFQLYET	4.0	8.0	unscreened	-	2224_17:7689494-7689494 C>T_EQEIRDMGLQSTLFTLTKVFQLYET
21:44480636-44480636 C>T	0.0	2224	MELANOMA	-	-	-	-	CBS	uc002zcs.1,p.V249M|NM_001178008,p.V354M|uc002zcu.2,p.V354M|ENST00000544202,p.V266M|NM_001178009,p.V354M|NM_000071,p.V354M|uc002zcw.3,p.V354M|ENST00000359624,p.V354M|uc002zcv.2,p.V354M|ENST00000398168,p.V354M|uc002zct.2,p.V354M|ENST00000398158,p.V354M|ENST00000398165,p.V354M|ENST00000352178,p.V354M	retained_intron, protein_coding, processed_transcript	uc002zcw.3	nonsynonymous SNV	exon12	c.G1060A	p.V354M	EGLLCGGSAGSTVAVAVKAAQELQE	EGLLCGGSAGSTMAVAVKAAQELQE	7.0	2.0	unscreened	-	2224_21:44480636-44480636 C>T_EGLLCGGSAGSTMAVAVKAAQELQE
1:32841883-32841883 G>A	0.0	2224	MELANOMA	-	-	ID=COSM109839;OCCURENCE=1(skin)	-	BSDC1	uc001bvi.3,p.P396L|uc001bvj.3,p.P275L|NM_001143890,p.P284L|uc010ohg.2,p.P396L|ENST00000341071,p.P396L|uc001bvh.4,p.P379L|ENST00000446293,p.P396L|ENST00000455895,p.P379L|ENST00000413080,p.P318L|uc010ohi.2,p.P284L|ENST00000526031,p.P284L|ENST00000419121,p.P323L|uc010ohh.2,p.P323L|NM_018045,p.P379L|NM_001300958,p.P396L|NM_001143889,p.P323L|NM_001143888,p.P396L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ohi.2	nonsynonymous SNV	exon7	c.C851T	p.P284L	VFELNSDSGKSTPSNNGKKGSSTDI	VFELNSDSGKSTLSNNGKKGSSTDI	9.0	5.0	unscreened	-	2224_1:32841883-32841883 G>A_VFELNSDSGKSTLSNNGKKGSSTDI
1:155449104-155449104 G>A	0.0	2224	MELANOMA	-	-	ID=COSM110503;OCCURENCE=1(skin)	-	ASH1L	NM_018489,p.S1186F|ENST00000368346,p.S1186F|uc001fkt.3,p.S1186F|uc009wqq.3,p.S1186F|uc009wqr.1,p.S1186F|ENST00000392403,p.S1186F	retained_intron, protein_coding, nonsense_mediated_decay	uc009wqr.1	nonsynonymous SNV	exon4	c.C3557T	p.S1186F	LSELTSLKEATPSPISESHSDETIP	LSELTSLKEATPFPISESHSDETIP	7.0	3.0	unscreened	-	2224_1:155449104-155449104 G>A_LSELTSLKEATPFPISESHSDETIP
12:111330883-111330883 G>A	0.0	2224	MELANOMA	-	-	ID=COSM107359;OCCURENCE=1(skin)	-	CCDC63	uc010sye.1,p.E320K|NM_001286243,p.E320K|uc001trv.1,p.E360K|NM_001286244,p.E281K|ENST00000545036,p.E320K|ENST00000308208,p.E360K|uc001trw.1,p.E275K|ENST00000552694,p.E281K|NM_152591,p.E360K	protein_coding, processed_transcript	uc010sye.1	nonsynonymous SNV	exon8	c.G958A	p.E320K	EMMHKRTQRIQDEIILLRSQQKLSH	EMMHKRTQRIQDKIILLRSQQKLSH	1.0	9.0	unscreened	-	2224_12:111330883-111330883 G>A_EMMHKRTQRIQDKIILLRSQQKLSH
1:32841883-32841883 G>A	0.0	2224	MELANOMA	-	-	ID=COSM109839;OCCURENCE=1(skin)	-	BSDC1	ENST00000449308,p.P379L|ENST00000444377,p.P379L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000449308	nonsynonymous SNV	exon9	c.C1136T	p.P379L	VFELNSDSGKSTPSNNGKKETRSQF	VFELNSDSGKSTLSNNGKKETRSQF	9.0	5.0	unscreened	-	2224_1:32841883-32841883 G>A_VFELNSDSGKSTLSNNGKKETRSQF
X:140993665-140993665 C>T	0.0	2224	MELANOMA	-	-	ID=COSM106952;OCCURENCE=1(skin)	-	MAGEC1	uc004fbt.3,p.P159S|ENST00000285879,p.P159S|NM_005462,p.P159S	protein_coding	uc004fbt.3	nonsynonymous SNV	exon4	c.C475T	p.P159S	SPESTQSPFEGFPQSVLQIPVSAAS	SPESTQSPFEGFSQSVLQIPVSAAS	3.0	9.0	unscreened	-	2224_X:140993665-140993665 C>T_SPESTQSPFEGFSQSVLQIPVSAAS
10:107015520-107015520 G>A	0.0	2224	MELANOMA	-	-	ID=COSM110473;OCCURENCE=1(skin)	-	SORCS3	uc001kyi.1,p.G1100R|ENST00000369701,p.G1100R|NM_014978,p.G1100R	protein_coding	uc001kyi.1	nonsynonymous SNV	exon24	c.G3298A	p.G1100R	LNQNLVQFELKPGVQVIVYVTQLTL	LNQNLVQFELKPRVQVIVYVTQLTL	1.0	9.0	unscreened	-	2224_10:107015520-107015520 G>A_LNQNLVQFELKPRVQVIVYVTQLTL
15:58834092-58834092 G>A	0.0	2224	MELANOMA	-	-	-	-	LIPC	uc010bgb.1,p.D26N|uc010bfz.1,p.D128N|ENST00000356113,p.D128N|uc002afa.2,p.D128N|NM_000236,p.D128N|ENST00000299022,p.D128N|uc010bga.2,p.D128N|ENST00000414170,p.D128N	retained_intron, protein_coding	uc010bgb.1	nonsynonymous SNV	exon2	c.G76A	p.D26N	NVGLVDWITLAHDHYTIAVRNTRLV	NVGLVDWITLAHNHYTIAVRNTRLV	2.0	2.0	unscreened	-	2224_15:58834092-58834092 G>A_NVGLVDWITLAHNHYTIAVRNTRLV
19:53015279-53015279 A>C	0.0	2224	MELANOMA	-	-	ID=COSM108628;OCCURENCE=1(skin)	-	ZNF578	NM_001099694,p.M549L|ENST00000421239,p.M549L|uc002pzp.4,p.M549L	protein_coding, processed_transcript	uc002pzp.4	nonsynonymous SNV	exon6	c.A1645C	p.M549L	KPYKCKVCDKAFMCHSYLANHTRIH	KPYKCKVCDKAFLCHSYLANHTRIH	4.0	7.0	unscreened	-	2224_19:53015279-53015279 A>C_KPYKCKVCDKAFLCHSYLANHTRIH
9:136501831-136501831 C>T	0.0	2224	MELANOMA	-	-	-	-	DBH	NM_000787,p.A113V|ENST00000393056,p.A113V|uc004cel.3,p.A113V	protein_coding	uc004cel.3	nonsynonymous SNV	exon1	c.C338T	p.A113V	VVLWTDGDTAYFADAWSDQKGQIHL	VVLWTDGDTAYFVDAWSDQKGQIHL	1.0	1.0	unscreened	-	2224_9:136501831-136501831 C>T_VVLWTDGDTAYFVDAWSDQKGQIHL
1:149943030-149943030 G>A	0.0	2224	MELANOMA	-	-	ID=COSM110148;OCCURENCE=1(skin)	-	OTUD7B	ENST00000417191,p.P79S|ENST00000369135,p.P79S|uc001etn.3,p.P79S|NM_020205,p.P79S	protein_coding, processed_transcript	uc001etn.3	nonsynonymous SNV	exon3	c.C235T	p.P79S	EKGFSDREPTRPPRPILQRQDDIVQ	EKGFSDREPTRPSRPILQRQDDIVQ	7.0	7.0	unscreened	-	2224_1:149943030-149943030 G>A_EKGFSDREPTRPSRPILQRQDDIVQ
1:240371660-240371660 G>A	0.0	2224	MELANOMA	-	-	-	-	FMN2	ENST00000319653,p.G1183E|uc010pye.2,p.G1187E|NM_020066,p.G1183E|uc010pyd.2,p.G1183E	protein_coding, processed_transcript	uc010pye.2	nonsynonymous SNV	exon6	c.G3560A	p.G1187E	AGIPPPPPLPGVGIPPPPPLPGVGI	AGIPPPPPLPGVEIPPPPPLPGVGI	2.0	4.0	unscreened	-	2224_1:240371660-240371660 G>A_AGIPPPPPLPGVEIPPPPPLPGVGI
2:69330072-69330072 A>T	0.0	2224	MELANOMA	-	-	-	-	ANTXR1	uc002sfd.2,p.S268C	retained_intron, protein_coding	uc002sfd.2	nonsynonymous SNV	exon10	c.A802T	p.S268C	LCSFKINDSVTLSKSLQSPWVSSTS	LCSFKINDSVTLCKSLQSPWVSSTS	9.0	4.0	unscreened	-	2224_2:69330072-69330072 A>T_LCSFKINDSVTLCKSLQSPWVSSTS
6:51890934-51890934 G>A	0.0	2224	MELANOMA	-	-	ID=COSM108163;OCCURENCE=1(skin)	-	PKHD1	uc003pah.1,p.P1225L|ENST00000371117,p.P1225L|ENST00000340994,p.P1225L|uc003pai.3,p.P1225L|NM_138694,p.P1225L|NM_170724,p.P1225L	protein_coding	uc003pai.3	nonsynonymous SNV	exon32	c.C3674T	p.P1225L	ILSISGIGFSRDPALVWVLVGNRSC	ILSISGIGFSRDLALVWVLVGNRSC	1.0	8.0	unscreened	-	2224_6:51890934-51890934 G>A_ILSISGIGFSRDLALVWVLVGNRSC
11:46396539-46396539 C>T	0.0	2224	MELANOMA	-	-	-	-	DGKZ	uc001ncm.2,p.P551S|NM_001199266,p.P552S|uc001nck.2,p.P330S|NM_001199268,p.P529S|uc009yky.1,p.P552S|ENST00000454345,p.P740S|ENST00000395574,p.P518S|ENST00000421244,p.P552S|uc001ncl.2,p.P552S|uc001ncn.1,p.P740S|ENST00000318201,p.P529S|uc001nch.2,p.P568S|NM_201533,p.P556S|NM_001199267,p.P551S|uc010rgq.2,p.P534S|uc010rgr.2,p.P556S|ENST00000527911,p.P552S|uc010rgs.1,p.P529S|ENST00000528615,p.P330S|NM_201532,p.P568S|NM_001105540,p.P740S|NM_003646,p.P552S|ENST00000532868,p.P556S|ENST00000456247,p.P551S|ENST00000343674,p.P568S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rgs.1	nonsynonymous SNV	exon18	c.C1585T	p.P529S	PWGHPGEHHDFEPQRHDDGYLEVIG	PWGHPGEHHDFESQRHDDGYLEVIG	9.0	6.0	unscreened	-	2224_11:46396539-46396539 C>T_PWGHPGEHHDFESQRHDDGYLEVIG
11:55872781-55872781 C>T	0.0	2224	MELANOMA	-	-	ID=COSM109212;OCCURENCE=1(skin)	-	OR8H2	NM_001005200,p.T88I|uc010riy.2,p.T88I|ENST00000313503,p.T88I	protein_coding	uc010riy.2	nonsynonymous SNV	exon1	c.C263T	p.T88I	TVVTPKTLANLLTSNYISFTGCFAQ	TVVTPKTLANLLISNYISFTGCFAQ	1.0	4.0	unscreened	-	2224_11:55872781-55872781 C>T_TVVTPKTLANLLISNYISFTGCFAQ
5:35084586-35084586 T>C	0.0	2224	MELANOMA	-	-	ID=COSM106495;OCCURENCE=1(skin)	-	PRLR	ENST00000348262,p.D120G|NM_001204317,p.D120G|NM_000949,p.D120G|ENST00000310101,p.D120G|ENST00000542609,p.D120G|ENST00000231423,p.D120G|NM_001204316,p.D120G|uc003jjj.2,p.D120G|ENST00000513753,p.D120G|uc003jji.2,p.D49G|uc003jjg.2,p.D120G|uc021xxl.1,p.D120G|ENST00000382002,p.D120G|ENST00000397391,p.D49G|NM_001204318,p.D120G|NM_001204315,p.D120G|uc003jjh.2,p.D120G|uc003jjk.1,p.D49G|uc010iuw.1,p.D49G|uc003jjm.3,p.D120G	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xxl.1	nonsynonymous SNV	exon4	c.A359G	p.D120G	QMGSSFSDELYVDVTYIVQPDPPLE	QMGSSFSDELYVGVTYIVQPDPPLE	3.0	5.0	unscreened	-	2224_5:35084586-35084586 T>C_QMGSSFSDELYVGVTYIVQPDPPLE
6:30864593-30864593 G>A	0.0	2224	MELANOMA	-	-	ID=COSM1077465,COSM107808,COSM1077467;OCCURENCE=1(endometrium),2(skin)	-	DDR1	ENST00000454612,p.R570Q|uc011dms.2,p.R588Q|uc010jse.3,p.R570Q|uc003nrv.3,p.R607Q|NM_013994,p.R607Q|ENST00000376570,p.R570Q|NM_001202523,p.R588Q|ENST00000361741,p.R274Q|ENST00000376568,p.R607Q|ENST00000376575,p.R607Q|NM_013993,p.R607Q|uc003nrq.3,p.R570Q|ENST00000452441,p.R607Q|ENST00000324771,p.R607Q|ENST00000513240,p.R607Q|NM_001297654,p.R607Q|uc003nrw.1,p.R342Q|ENST00000508312,p.R588Q|uc003nrs.3,p.R607Q|NM_001954,p.R570Q|ENST00000418800,p.R570Q|ENST00000376567,p.R570Q|NM_001297653,p.R570Q|uc003nru.3,p.R570Q|NM_001297652,p.R570Q|ENST00000376569,p.R570Q|ENST00000417521,p.R339Q|uc003nrr.3,p.R607Q|uc003nrt.3,p.R570Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dms.2	nonsynonymous SNV	exon12	c.G1763A	p.R588Q	AVGDGPPRVDFPRSRLRFKEKLGEG	AVGDGPPRVDFPQSRLRFKEKLGEG	9.0	4.0	unscreened	-	2224_6:30864593-30864593 G>A_AVGDGPPRVDFPQSRLRFKEKLGEG
22:44178116-44178116 G>A	0.0	2224	MELANOMA	-	-	ID=COSM108408;OCCURENCE=1(skin)	-	EFCAB6	NM_022785,p.S28L|uc003bea.2,p.S25L|ENST00000262726,p.S28L|uc003bdy.2,p.S28L	retained_intron, protein_coding, processed_transcript	uc003bea.2	nonsynonymous SNV	exon3	c.C74T	p.S25L	HTRKFTHSRPHSSPCRVYSRNGSPN	HTRKFTHSRPHSLPCRVYSRNGSPN	3.0	4.0	unscreened	-	2224_22:44178116-44178116 G>A_HTRKFTHSRPHSLPCRVYSRNGSPN
15:75705226-75705226 G>A	0.0	2224	MELANOMA	0.0005	-	ID=COSM109752;OCCURENCE=1(skin)	-	SIN3A	uc002bai.3,p.P212S|NM_001145358,p.P212S|NM_001145357,p.P212S|ENST00000394949,p.P212S|uc010uml.2,p.P212S|ENST00000360439,p.P212S|uc002baj.3,p.P212S|NM_015477,p.P212S|ENST00000394947,p.P212S	retained_intron, protein_coding	uc010uml.2	nonsynonymous SNV	exon5	c.C634T	p.P212S	VNVTTPGQVHQIPTHGIQPQPQPPP	VNVTTPGQVHQISTHGIQPQPQPPP	8.0	4.0	unscreened	-	2224_15:75705226-75705226 G>A_VNVTTPGQVHQISTHGIQPQPQPPP
7:98643388-98643388 C>A	0.0	2224	MELANOMA	-	-	ID=COSM106707;OCCURENCE=1(skin)	-	SMURF1	NM_181349,p.D397Y|NM_020429,p.D423Y|NM_001199847,p.D397Y|uc003upt.3,p.D397Y|ENST00000361368,p.D397Y|uc003upu.2,p.D423Y|ENST00000361125,p.D423Y|uc003upv.2,p.D397Y	protein_coding, processed_transcript	uc003upv.2	nonsynonymous SNV	exon11	c.G1189T	p.D397Y	ESYRQIMKMRPKDLKKRLMVKFRGE	ESYRQIMKMRPKYLKKRLMVKFRGE	7.0	4.0	unscreened	-	2224_7:98643388-98643388 C>A_ESYRQIMKMRPKYLKKRLMVKFRGE
18:40854357-40854357 C>T	0.0	2224	MELANOMA	-	-	ID=COSM109930,COSM109931;OCCURENCE=1(skin)	-	SYT4	uc002law.3,p.E13K|ENST00000255224,p.E13K|NM_020783,p.E13K	protein_coding, processed_transcript	uc002law.3	nonsynonymous SNV	exon2	c.G37A	p.E13K	MAPITTSREEFDEIPTVVGIFSAFG	MAPITTSREEFDKIPTVVGIFSAFG	1.0	6.0	unscreened	-	2224_18:40854357-40854357 C>T_MAPITTSREEFDKIPTVVGIFSAFG
4:75245233-75245233 G>A	0.0	2224	MELANOMA	-	-	ID=COSM109166;OCCURENCE=1(skin)	-	EREG	uc003hid.3,p.D40N|ENST00000244869,p.D46N|NM_001432,p.D46N|uc003hie.1,p.D46N	retained_intron, protein_coding, processed_transcript	uc003hie.1	nonsynonymous SNV	exon2	c.G136A	p.D46N	TVIPSCIPGESSDNCTALVQTEDNP	TVIPSCIPGESSNNCTALVQTEDNP	1.0	5.0	unscreened	-	2224_4:75245233-75245233 G>A_TVIPSCIPGESSNNCTALVQTEDNP
7:139653255-139653255 G>A	0.0	2224	MELANOMA	-	-	-	-	TBXAS1	NM_001166254,p.R113K|ENST00000416849,p.R227K|uc003vvi.3,p.R181K|ENST00000458722,p.R226K|ENST00000336425,p.R180K|ENST00000425687,p.R113K|uc003vvj.3,p.R181K|ENST00000436047,p.R181K|ENST00000411653,p.R180K|uc011kqu.2,p.R132K|ENST00000448866,p.R180K|ENST00000414508,p.R181K|uc010lne.3,p.R113K|ENST00000263552,p.R181K|uc003vvh.3,p.R181K|uc011kqw.2,p.R161K|NM_001166253,p.R227K|NM_001130966,p.R181K|NM_030984,p.R181K|NM_001061,p.R181K|uc011kqv.2,p.R227K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kqw.2	nonsynonymous SNV	exon6	c.G482A	p.R161K	RYAESGDAFDIQRCYCNYTTDVVAS	RYAESGDAFDIQKCYCNYTTDVVAS	7.0	1.0	unscreened	-	2224_7:139653255-139653255 G>A_RYAESGDAFDIQKCYCNYTTDVVAS
7:140453136-140453136 A>T	0.0	2224	MELANOMA	-	-	ID=COSM476;OCCURENCE=3(adrenal_gland),3(urinary_tract),4(genital_tract),7(pancreas),16(liver),68(eye),2(prostate),4161(large_intestine),21(biliary_tract),11(breast),4377(skin),9(small_intestine),1(autonomic_ganglia),20(pituitary),242(ovary),32(soft_tissue),7(testis),459(haematopoietic_and_lymphoid_tissue),9534(thyroid),78(lung),1(meninges),12(upper_aerodigestive_tract),717(NS),15(bone),2(oesophagus),4(stomach),228(central_nervous_system)	1	BRAF	uc003vwc.4,p.V600E|ENST00000479537,p.V28E|NM_004333,p.V600E|ENST00000288602,p.V600E	retained_intron, protein_coding, nonsense_mediated_decay	uc003vwc.4	nonsynonymous SNV	exon15	c.T1799A	p.V600E	LTVKIGDFGLATVKSRWSGSHQFEQ	LTVKIGDFGLATEKSRWSGSHQFEQ	7.0	9.0	unscreened	-	2224_7:140453136-140453136 A>T_LTVKIGDFGLATEKSRWSGSHQFEQ
15:24923455-24923455 C>T	0.0	2224	MELANOMA	-	-	ID=COSM109581;OCCURENCE=1(skin)	-	NPAP1	uc001ywo.3,p.S814L|ENST00000329468,p.S814L|NM_018958,p.S814L	protein_coding	uc001ywo.3	nonsynonymous SNV	exon1	c.C2441T	p.S814L	DTSTLVSSASAASLSKPAIDTSDMN	DTSTLVSSASAALLSKPAIDTSDMN	1.0	2.0	unscreened	-	2224_15:24923455-24923455 C>T_DTSTLVSSASAALLSKPAIDTSDMN
5:140531426-140531426 G>A	0.0	2224	MELANOMA	-	-	ID=COSM125210;OCCURENCE=1(upper_aerodigestive_tract),1(skin)	-	PCDHB6	uc003lir.3,p.G530S|ENST00000231136,p.G530S|ENST00000543635,p.G394S|NM_018939,p.G530S	protein_coding	uc003lir.3	nonsynonymous SNV	exon1	c.G1588A	p.G530S	DYEALQSFEFRVGATDRGSPALSSE	DYEALQSFEFRVSATDRGSPALSSE	3.0	2.0	unscreened	-	2224_5:140531426-140531426 G>A_DYEALQSFEFRVSATDRGSPALSSE
6:96652014-96652014 G>A	0.0	2224	MELANOMA	-	-	ID=COSM108377;OCCURENCE=1(oesophagus),1(large_intestine),1(skin)	-	FUT9	ENST00000302103,p.R328Q|NM_006581,p.R328Q|uc021zcw.1,p.R328Q|uc003pop.4,p.R328Q	protein_coding, processed_transcript	uc021zcw.1	nonsynonymous SNV	exon1	c.G983A	p.R328Q	FNWRKDFTVNLPRFWESHACLACDH	FNWRKDFTVNLPQFWESHACLACDH	1.0	9.0	unscreened	-	2224_6:96652014-96652014 G>A_FNWRKDFTVNLPQFWESHACLACDH
5:70785332-70785332 G>A	0.0	2224	MELANOMA	-	-	ID=COSM108974;OCCURENCE=1(skin)	-	BDP1	ENST00000358731,p.E439K|uc003kbo.3,p.E439K|uc003kbn.1,p.E439K|NM_018429,p.E439K|uc003kbp.1,p.E439K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003kbp.1	nonsynonymous SNV	exon10	c.G1315A	p.E439K	DTERSQKDAQTVEEESLTLSREDAE	DTERSQKDAQTVKEESLTLSREDAE	7.0	5.0	unscreened	-	2224_5:70785332-70785332 G>A_DTERSQKDAQTVKEESLTLSREDAE
4:70066411-70066411 G>A	0.0	2224	MELANOMA	-	-	-	-	UGT2B11	uc003heh.3,p.S446L|NM_001073,p.S446L|ENST00000446444,p.S446L	retained_intron, protein_coding	uc003heh.3	nonsynonymous SNV	exon6	c.C1337T	p.S446L	NDPLYKENIMKLSRIQHDQPVKPLD	NDPLYKENIMKLLRIQHDQPVKPLD	1.0	3.0	unscreened	-	2224_4:70066411-70066411 G>A_NDPLYKENIMKLLRIQHDQPVKPLD
2:73959351-73959351 C>T	0.0	2224	MELANOMA	-	-	ID=COSM109516;OCCURENCE=1(skin)	-	TPRKB	uc002sjl.2,p.G35E|NM_016058,p.G68E|ENST00000272424,p.G68E|ENST00000318190,p.G107E|uc002sjo.2,p.G68E|uc002sjm.2,p.G107E|ENST00000409716,p.G107E|uc010yrm.1,p.G35E|uc002sjn.2,p.G68E	retained_intron, protein_coding, processed_transcript	uc010yrm.1	nonsynonymous SNV	exon3	c.G104A	p.G35E	VAANKAVHLYKLGKMKTRTLSTEII	VAANKAVHLYKLEKMKTRTLSTEII	9.0	7.0	unscreened	-	2224_2:73959351-73959351 C>T_VAANKAVHLYKLEKMKTRTLSTEII
18:61022756-61022756 T>G	0.0	2224	MELANOMA	-	-	ID=COSM109933;OCCURENCE=1(skin)	1	KDSR	ENST00000406396,p.N99T|uc010dpw.3,p.N99T|uc010xem.2,p.N99T|ENST00000592327,p.N99T|ENST00000326575,p.N99T|NM_002035,p.N99T	retained_intron, protein_coding, processed_transcript	uc010xem.2	nonsynonymous SNV	exon4	c.A296C	p.N99T	VLCISVDVSQDYNQVENVIKQAQEK	VLCISVDVSQDYTQVENVIKQAQEK	9.0	6.0	unscreened	-	2224_18:61022756-61022756 T>G_VLCISVDVSQDYTQVENVIKQAQEK
16:9857125-9857125 C>T	0.0	2224	MELANOMA	-	-	ID=COSM106528;OCCURENCE=1(skin)	1	GRIN2A	ENST00000396575,p.E1426K|uc002czo.4,p.E1426K|NM_000833,p.E1426K|ENST00000330684,p.E1426K|ENST00000396573,p.E1426K|NM_001134407,p.E1426K|uc010uym.2,p.E1426K	retained_intron, protein_coding, processed_transcript	uc010uym.2	nonsynonymous SNV	exon14	c.G4276A	p.E1426K	RDSRGHNDVYISEHVMPYAANKNNM	RDSRGHNDVYISKHVMPYAANKNNM	2.0	6.0	unscreened	-	2224_16:9857125-9857125 C>T_RDSRGHNDVYISKHVMPYAANKNNM
18:70461450-70461450 C>T	0.0	2224	MELANOMA	-	-	ID=COSM107518;OCCURENCE=1(skin),1(large_intestine)	-	NETO1	ENST00000583169,p.G181R|uc002lky.2,p.G181R|ENST00000299430,p.G180R|NM_001201465,p.G181R|uc002lkw.3,p.G181R|ENST00000327305,p.G181R|NM_138966,p.G181R	protein_coding, processed_transcript	uc002lky.2	nonsynonymous SNV	exon6	c.G541A	p.G181R	LPACEFEMGGSEGIVESIQIMKEGK	LPACEFEMGGSERIVESIQIMKEGK	1.0	3.0	unscreened	-	2224_18:70461450-70461450 C>T_LPACEFEMGGSERIVESIQIMKEGK
4:159592830-159592830 G>A	0.0	2224	MELANOMA	-	-	ID=COSM106372;OCCURENCE=1(skin)	-	C4orf46	ENST00000508457,p.P42S|uc003iqa.3,p.P42S|ENST00000379205,p.P42S|NM_001008393,p.P42S	protein_coding, processed_transcript	uc003iqa.3	nonsynonymous SNV	exon1	c.C124T	p.P42S	SPGGPVSLGWPVPSRSSGPTVDQLE	SPGGPVSLGWPVSSRSSGPTVDQLE	5.0	9.0	unscreened	-	2224_4:159592830-159592830 G>A_SPGGPVSLGWPVSSRSSGPTVDQLE
16:3297090-3297090 C>T	0.0	2224	MELANOMA	-	-	ID=COSM109725;OCCURENCE=1(skin)	-	MEFV	ENST00000541159,p.D294N|ENST00000537682,p.D505N|NM_001198536,p.D294N|ENST00000219596,p.D505N|uc002cun.1,p.D505N|uc021tbx.1,p.D85N|ENST00000536379,p.D294N|uc021tbw.1,p.D294N|uc021tcb.1,p.D85N|ENST00000536980,p.D294N|ENST00000542898,p.D536N|NM_000243,p.D505N|ENST00000339854,p.D325N	retained_intron, protein_coding, nonsense_mediated_decay	uc021tcb.1	nonsynonymous SNV	exon2	c.G253A	p.D85N	QIRKAYDTRVSQDIALLDALIGELE	QIRKAYDTRVSQNIALLDALIGELE	3.0	6.0	unscreened	-	2224_16:3297090-3297090 C>T_QIRKAYDTRVSQNIALLDALIGELE
17:7695619-7695619 C>T	0.0	2224	MELANOMA	-	-	ID=COSM108245;OCCURENCE=1(skin)	-	DNAH2	NM_020877,p.S2368L|uc002giu.1,p.S2368L|ENST00000389173,p.S2368L|ENST00000572933,p.S2368L	retained_intron, protein_coding, nonsense_mediated_decay	uc002giu.1	nonsynonymous SNV	exon45	c.C7103T	p.S2368L	EYFVDPKIRSWTSFEDKLPKSWRYP	EYFVDPKIRSWTLFEDKLPKSWRYP	4.0	3.0	unscreened	-	2224_17:7695619-7695619 C>T_EYFVDPKIRSWTLFEDKLPKSWRYP
18:29056048-29056048 C>T	0.0	2224	MELANOMA	-	-	ID=COSM108523;OCCURENCE=1(skin)	-	DSG3	NM_001944,p.S942F|uc002kwt.3,p.S224F|uc002kws.3,p.S942F|ENST00000257189,p.S942F	protein_coding	uc002kwt.3	nonsynonymous SNV	exon2	c.C671T	p.S224F	NYLVTETYSASGSLVQPSTAGFDPL	NYLVTETYSASGFLVQPSTAGFDPL	1.0	3.0	unscreened	-	2224_18:29056048-29056048 C>T_NYLVTETYSASGFLVQPSTAGFDPL
20:57829185-57829185 C>T	0.0	2224	MELANOMA	-	-	ID=COSM110307;OCCURENCE=3(skin)	-	ZNF831	ENST00000371030,p.S1474F|uc002yan.3,p.S1474F|NM_178457,p.S1474F	protein_coding	uc002yan.3	nonsynonymous SNV	exon5	c.C4421T	p.S1474F	KPYIFSDAQRPSSFGSKGTFPHHDI	KPYIFSDAQRPSFFGSKGTFPHHDI	2.0	3.0	unscreened	-	2224_20:57829185-57829185 C>T_KPYIFSDAQRPSFFGSKGTFPHHDI
22:21990989-21990989 C>T	0.0	2224	MELANOMA	-	-	ID=COSM110497;OCCURENCE=1(skin)	-	CCDC116	NM_152612,p.S491L|ENST00000292779,p.S491L|uc002zve.3,p.S491L	protein_coding	uc002zve.3	nonsynonymous SNV	exon5	c.C1472T	p.S491L	LKKVKGSRIHLSSETHRSCLLRKLE	LKKVKGSRIHLSLETHRSCLLRKLE	2.0	5.0	unscreened	-	2224_22:21990989-21990989 C>T_LKKVKGSRIHLSLETHRSCLLRKLE
19:8654434-8654434 C>T	0.0	2224	MELANOMA	-	-	ID=COSM109510;OCCURENCE=2(skin)	-	ADAMTS10	ENST00000270328,p.E646K|ENST00000597188,p.E646K|NM_030957,p.E646K|uc002mkk.1,p.E278K|uc002mkj.1,p.E646K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkk.1	nonsynonymous SNV	exon16	c.G832A	p.E278K	GGVKACSLTCLAEGFNFYTERAAAV	GGVKACSLTCLAKGFNFYTERAAAV	5.0	8.0	unscreened	-	2224_19:8654434-8654434 C>T_GGVKACSLTCLAKGFNFYTERAAAV
19:8654434-8654434 C>T	0.0	2224	MELANOMA	-	-	ID=COSM109510;OCCURENCE=2(skin)	-	ADAMTS10	uc002mki.1,p.E133K|ENST00000595838,p.E133K|NM_001282352,p.E133K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mki.1	nonsynonymous SNV	exon4	c.G397A	p.E133K	RTGEACSLTCLAEGFNFYTERAAAV	RTGEACSLTCLAKGFNFYTERAAAV	5.0	8.0	unscreened	-	2224_19:8654434-8654434 C>T_RTGEACSLTCLAKGFNFYTERAAAV
X:107924119-107924119 G>A	0.0	2224	MELANOMA	-	-	-	-	COL4A5	ENST00000361603,p.M1334I|ENST00000328300,p.M1340I|NM_000495,p.M1334I|uc022ccg.2,p.M1340I	retained_intron, protein_coding, processed_transcript	uc022ccg.2	nonsynonymous SNV	exon46	c.G4020A	p.M1340I	DPGLPGVPGFPGMKGPSGVPGSAGP	DPGLPGVPGFPGIKGPSGVPGSAGP	4.0	9.0	unscreened	-	2224_X:107924119-107924119 G>A_DPGLPGVPGFPGIKGPSGVPGSAGP
X:69283200-69283200 G>A	0.0	2224	MELANOMA	-	-	ID=COSM107699;OCCURENCE=2(skin)	-	OTUD6A	NM_207320,p.E276K|uc004dxu.1,p.E276K|ENST00000338352,p.E276K	protein_coding	uc004dxu.1	nonsynonymous SNV	exon1	c.G826A	p.E276K	SLGEHYNSVTPLEAGAAGGVLPRLL	SLGEHYNSVTPLKAGAAGGVLPRLL	1.0	9.0	unscreened	-	2224_X:69283200-69283200 G>A_SLGEHYNSVTPLKAGAAGGVLPRLL
9:36170278-36170278 G>A	0.0	2224	MELANOMA	-	-	ID=COSM107672;OCCURENCE=1(skin)	-	CCIN	ENST00000335119,p.R260H|uc003zzb.4,p.R260H|NM_005893,p.R260H	protein_coding	uc003zzb.4	nonsynonymous SNV	exon1	c.G779A	p.R260H	SHTTLIESVLMDRKQERPCSLLVYQ	SHTTLIESVLMDHKQERPCSLLVYQ	1.0	9.0	unscreened	-	2224_9:36170278-36170278 G>A_SHTTLIESVLMDHKQERPCSLLVYQ
8:55542149-55542149 G>A	0.0	2224	MELANOMA	-	-	-	-	RP1	NM_006269,p.E1903K|ENST00000220676,p.E1903K|uc003xsd.1,p.E1903K	protein_coding	uc003xsd.1	nonsynonymous SNV	exon4	c.G5707A	p.E1903K	LPGSNMIHGTLQEADSLDKLYALCG	LPGSNMIHGTLQKADSLDKLYALCG	1.0	1.0	unscreened	-	2224_8:55542149-55542149 G>A_LPGSNMIHGTLQKADSLDKLYALCG
17:10400637-10400637 C>T	0.0	2224	MELANOMA	-	-	ID=COSM107119;OCCURENCE=1(skin)	-	MYH1	ENST00000226207,p.E1500K|NM_005963,p.E1500K|uc002gmo.3,p.E1500K	protein_coding	uc002gmo.3	nonsynonymous SNV	exon32	c.G4498A	p.E1500K	IKNAYEESLDQLETLKRENKNLQQE	IKNAYEESLDQLKTLKRENKNLQQE	1.0	9.0	unscreened	-	2224_17:10400637-10400637 C>T_IKNAYEESLDQLKTLKRENKNLQQE
19:49657889-49657889 ->TCC	0.0	2224	MELANOMA	-	-	-	-	HRC	NM_002152,p.E202delinsEE|ENST00000252825,p.E202delinsEE|uc002pmv.3,p.E202delinsEE|ENST00000595625,p.E202delinsEE	retained_intron, protein_coding	uc002pmv.3	nonframeshift insertion	exon1	c.605_606insGGA	p.E202delinsEE	DEGEEEEEEEEEEEEASTEYGHQAH	DEGEEEEEEEEEEEEEASTEYGHQA	3.0	1.0	unscreened	-	2224_19:49657889-49657889 ->TCC_DEGEEEEEEEEEEEEEASTEYGHQA
2:80101412-80101412 G>A	0.0	2224	MELANOMA	-	-	ID=COSM109987,COSM109986;OCCURENCE=1(skin)	2	CTNNA2	NM_001282597,p.E266K|ENST00000466387,p.E266K|uc010yse.2,p.E266K|uc010ysg.2,p.E266K|ENST00000496558,p.E266K|ENST00000361291,p.E300K|NM_001282598,p.E300K|NM_004389,p.E266K|ENST00000540488,p.E266K|ENST00000402739,p.E266K|uc010ysh.2,p.E266K|ENST00000541047,p.E266K|uc010ysf.2,p.E266K|NM_001164883,p.E266K	retained_intron, protein_coding, processed_transcript	uc010ysh.2	nonsynonymous SNV	exon5	c.G796A	p.E266K	ISNAAQATSPTDEAKGHTGIGELAA	ISNAAQATSPTDKAKGHTGIGELAA	4.0	9.0	unscreened	-	2224_2:80101412-80101412 G>A_ISNAAQATSPTDKAKGHTGIGELAA
7:64169024-64169024 G>A	0.0	2224	MELANOMA	-	-	-	-	ZNF107	uc003ttd.3,p.G781D|NM_001282359,p.G850D|ENST00000423627,p.G781D|NM_001013746,p.G781D|ENST00000395391,p.G781D|uc003tte.3,p.G781D|ENST00000344930,p.G781D|NM_001282360,p.G818D|NM_016220,p.G781D	protein_coding	uc003tte.3	nonsynonymous SNV	exon5	c.G2342A	p.G781D	IHTGEKPYKCEYGKT	IHTGEKPYKCEYDKT	6.0	1.0	unscreened	-	2224_7:64169024-64169024 G>A_IHTGEKPYKCEYDKT
19:48537552-48537552 C>T	0.0	2224	MELANOMA	-	-	ID=COSM107695;OCCURENCE=1(skin)	-	CABP5	NM_019855,p.G139E|uc002phu.2,p.G139E|ENST00000293255,p.G139E	retained_intron, protein_coding	uc002phu.2	nonsynonymous SNV	exon5	c.G416A	p.G139E	LVELQQAMQRLLGERLTPREISEVV	LVELQQAMQRLLEERLTPREISEVV	1.0	9.0	unscreened	-	2224_19:48537552-48537552 C>T_LVELQQAMQRLLEERLTPREISEVV
1:152188281-152188281 C>T	0.0	2224	MELANOMA	-	-	-	-	HRNR	NM_001009931,p.G1942R|ENST00000368801,p.G1942R|uc001ezt.2,p.G1942R	protein_coding	uc001ezt.2	nonsynonymous SNV	exon3	c.G5824A	p.G1942R	SRQSLGHGQHGSGSGQSPSPSRGRH	SRQSLGHGQHGSRSGQSPSPSRGRH	1.0	1.0	unscreened	-	2224_1:152188281-152188281 C>T_SRQSLGHGQHGSRSGQSPSPSRGRH
16:71956512-71956517 ATGCCC>-	0.0	2224	MELANOMA	-	-	-	-	IST1	ENST00000378799,p.230_231del|ENST00000538850,p.82_83del|NM_001270979,p.82_83del|ENST00000329908,p.230_231del|NM_001270976,p.243_244del|NM_001270978,p.82_83del|NM_014761,p.230_231del|NM_001270975,p.230_231del|ENST00000541571,p.230_231del|ENST00000535424,p.243_244del|ENST00000606369,p.82_83del|ENST00000537613,p.230_231del|ENST00000456820,p.168_169del|ENST00000544564,p.230_231del|NM_001270977,p.230_231del|ENST00000378798,p.230_231del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	NM_014761	nonframeshift deletion	exon7	c.688_693del	p.230_231del	TAPVGGPDGTVPMPMPMPMPMPSAN	TAPVGGPDGTVPMPMPMPMPSANTP	10.0	3.0	unscreened	-	2224_16:71956512-71956517 ATGCCC>-_TAPVGGPDGTVPMPMPMPMPSANTP
15:42116118-42116118 G>A	0.0	2224	MELANOMA	-	-	ID=COSM109434;OCCURENCE=1(skin)	-	MAPKBP1	ENST00000221214,p.G1241R|NM_014994,p.G1358R|uc010bcj.3,p.G865R|ENST00000456763,p.G1364R|uc010bcl.3,p.G865R|uc010bck.3,p.G575R|uc001zoj.4,p.G1358R|uc001zok.4,p.G1364R|NM_001128608,p.G1364R|ENST00000457542,p.G1358R|ENST00000260357,p.G1197R|uc010udb.2,p.G1197R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010udb.2	nonsynonymous SNV	exon27	c.G3589A	p.G1197R	TPKPRTECQAHPGPSSPCAQQLPVS	TPKPRTECQAHPRPSSPCAQQLPVS	7.0	9.0	unscreened	-	2224_15:42116118-42116118 G>A_TPKPRTECQAHPRPSSPCAQQLPVS
14:24769849-24769849 ->GAGGAG	0.0	2224	MELANOMA	-	-	ID=COSM1477508;OCCURENCE=1(breast)	-	NOP9	NM_001286367,p.A161delinsAEE|uc001wol.1,p.A161delinsAEE|ENST00000396802,p.A161delinsAEE|ENST00000267425,p.A161delinsAEE|NM_174913,p.A161delinsAEE	protein_coding	uc001wol.1	nonframeshift insertion	exon2	c.483_484insGAGGAG	p.A161delinsAEE	ALLQLPRLLGSAAEEEEEEEEDGKD	ALLQLPRLLGSAAEEEEEEEEEEDG	6.0	1.0	unscreened	-	2224_14:24769849-24769849 ->GAGGAG_ALLQLPRLLGSAAEEEEEEEEEEDG
3:133099154-133099154 G>A	0.0	2224	MELANOMA	-	-	ID=COSM110078;OCCURENCE=1(skin)	-	TMEM108	ENST00000515826,p.R200Q|NM_001136469,p.R200Q|ENST00000321871,p.R200Q|uc003eph.3,p.R200Q|uc003epj.1,p.R200Q|uc003epi.3,p.R200Q|ENST00000393130,p.R200Q|NM_023943,p.R200Q	retained_intron, protein_coding, processed_transcript	uc003epj.1	nonsynonymous SNV	exon3	c.G599A	p.R200Q	GGHSRSKEGQRGRNPSSTPLGQKRP	GGHSRSKEGQRGQNPSSTPLGQKRP	4.0	2.0	unscreened	-	2224_3:133099154-133099154 G>A_GGHSRSKEGQRGQNPSSTPLGQKRP
3:46729610-46729610 G>A	0.0	2224	MELANOMA	-	-	ID=COSM110304;OCCURENCE=1(skin)	-	ALS2CL	uc003cqa.2,p.R94C|NM_001190707,p.R94C|ENST00000434140,p.R94C|ENST00000450172,p.R94C|ENST00000318962,p.R94C|ENST00000415953,p.R94C|ENST00000431015,p.R94C|NM_147129,p.R94C|uc003cqb.2,p.R94C	retained_intron, protein_coding, nonsense_mediated_decay	uc003cqb.2	nonsynonymous SNV	exon3	c.C280T	p.R94C	GLESLLLLRGADRVLQAHIEYIESY	GLESLLLLRGADCVLQAHIEYIESY	4.0	7.0	unscreened	-	2224_3:46729610-46729610 G>A_GLESLLLLRGADCVLQAHIEYIESY
19:1581091-1581091 C>T	0.0	2224	MELANOMA	-	-	ID=COSM109916;OCCURENCE=1(skin)	-	MBD3	ENST00000590550,p.R170K|ENST00000592012,p.R194K|ENST00000156825,p.R226K|NM_001281454,p.R194K|ENST00000434436,p.R226K|uc002ltl.1,p.R226K|uc002ltj.3,p.R226K|uc002ltk.3,p.R194K|NM_001281453,p.R226K	retained_intron, protein_coding, processed_transcript	uc002ltl.1	nonsynonymous SNV	exon5	c.G677A	p.R226K	LCKAFMVTDEDIRKQEELVQQVRKR	LCKAFMVTDEDIKKQEELVQQVRKR	8.0	6.0	unscreened	-	2224_19:1581091-1581091 C>T_LCKAFMVTDEDIKKQEELVQQVRKR
11:33047328-33047328 T>G	0.0	2224	MELANOMA	-	-	ID=COSM109156;OCCURENCE=1(skin)	-	DEPDC7	NM_001077242,p.F66C|uc010reh.1,p.F66C|uc001mub.3,p.F66C|NM_139160,p.F57C|ENST00000311388,p.F57C|uc001muc.3,p.F57C|ENST00000241051,p.F66C|uc010reg.1,p.F66C	retained_intron, protein_coding	uc010reh.1	nonsynonymous SNV	exon2	c.T197G	p.F66C	KRRHRLKRHNDCFVGSEAVDVIFSH	KRRHRLKRHNDCCVGSEAVDVIFSH	4.0	5.0	unscreened	-	2224_11:33047328-33047328 T>G_KRRHRLKRHNDCCVGSEAVDVIFSH
11:73979214-73979214 G>A	0.0	2224	MELANOMA	-	-	ID=COSM109325;OCCURENCE=1(skin)	-	P4HA3	ENST00000331597,p.P514S|NM_182904,p.P514S|ENST00000532689,p.P31S|uc001ouz.3,p.P514S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ouz.3	nonsynonymous SNV	exon12	c.C1540T	p.P514S	GEGDSDTLHAGCPVLVGDKWVANKW	GEGDSDTLHAGCSVLVGDKWVANKW	4.0	6.0	unscreened	-	2224_11:73979214-73979214 G>A_GEGDSDTLHAGCSVLVGDKWVANKW
X:3530333-3530333 C>T	0.0	2224	MELANOMA	-	-	ID=COSM110404;OCCURENCE=1(skin)	-	PRKX	ENST00000262848,p.D329N|uc010nde.3,p.D329N|NM_005044,p.D329N	protein_coding, processed_transcript	uc010nde.3	nonsynonymous SNV	exon8	c.G985A	p.D329N	KPPIVPKIAGDGDTSNFETYPENDW	KPPIVPKIAGDGNTSNFETYPENDW	6.0	7.0	unscreened	-	2224_X:3530333-3530333 C>T_KPPIVPKIAGDGNTSNFETYPENDW
1:47512222-47512222 G>A	0.0	2224	MELANOMA	-	-	ID=COSM110407;OCCURENCE=1(skin)	-	CYP4X1	uc001cqs.3,p.R321K|uc001cqr.3,p.R385K|NM_178033,p.R386K|uc001cqt.3,p.R386K|ENST00000371901,p.R386K|ENST00000538609,p.R385K	protein_coding, processed_transcript	uc001cqt.3	nonsynonymous SNV	exon9	c.G1157A	p.R386K	TCRLIPAVPSISRDLSKPLTFPDGC	TCRLIPAVPSISKDLSKPLTFPDGC	2.0	3.0	unscreened	-	2224_1:47512222-47512222 G>A_TCRLIPAVPSISKDLSKPLTFPDGC
22:43604081-43604081 C>T	0.0	2224	MELANOMA	-	-	ID=COSM107015;OCCURENCE=1(skin)	-	SCUBE1	uc003bdt.2,p.D911N|ENST00000360835,p.D911N|NM_173050,p.D911N	protein_coding, processed_transcript	uc003bdt.2	nonsynonymous SNV	exon20	c.G2731A	p.D911N	SGKGFQVPYVTYDEDYQQLIEDIVR	SGKGFQVPYVTYNEDYQQLIEDIVR	1.0	8.0	unscreened	-	2224_22:43604081-43604081 C>T_SGKGFQVPYVTYNEDYQQLIEDIVR
1:158812167-158812167 T>C	0.0	2224	MELANOMA	-	-	ID=COSM106537;OCCURENCE=1(skin)	-	MNDA	ENST00000368141,p.L75P|NM_002432,p.L75P|uc001fsz.1,p.L75P	protein_coding, processed_transcript	uc001fsz.1	nonsynonymous SNV	exon2	c.T224C	p.L75P	DKLIELAKDMPSLKNLVNNLRKEKS	DKLIELAKDMPSPKNLVNNLRKEKS	6.0	7.0	unscreened	-	2224_1:158812167-158812167 T>C_DKLIELAKDMPSPKNLVNNLRKEKS
3:36570225-36570225 G>A	0.0	2224	MELANOMA	-	-	ID=COSM106889;OCCURENCE=1(skin)	-	STAC	NM_001292049,p.E259K|ENST00000457375,p.E259K|uc003cgh.1,p.E320K|uc011aya.1,p.E259K|NM_003149,p.E320K|ENST00000273183,p.E320K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011aya.1	nonsynonymous SNV	exon7	c.G775A	p.E259K	PGDIITLLEDSNEDWWKGKIQDRIG	PGDIITLLEDSNKDWWKGKIQDRIG	3.0	8.0	unscreened	-	2224_3:36570225-36570225 G>A_PGDIITLLEDSNKDWWKGKIQDRIG
11:22777413-22777413 C>A	0.0	2224	MELANOMA	-	-	ID=COSM106943;OCCURENCE=1(skin)	-	GAS2	NM_005256,p.P213T|ENST00000278187,p.P213T|uc001mqm.3,p.P213T|NM_001143830,p.P213T|uc009yie.3,p.P213T|ENST00000454584,p.P213T|NM_177553,p.P213T|ENST00000433790,p.P213T|uc001mqo.3,p.P213T	protein_coding, processed_transcript, nonsense_mediated_decay	uc009yie.3	nonsynonymous SNV	exon7	c.C637A	p.P213T	LLDDAVKRISEDPPCKCPNKFCVER	LLDDAVKRISEDTPCKCPNKFCVER	4.0	5.0	unscreened	-	2224_11:22777413-22777413 C>A_LLDDAVKRISEDTPCKCPNKFCVER
1:36181819-36181819 A>T	0.0	2224	MELANOMA	-	-	ID=COSM109118;OCCURENCE=1(skin)	-	C1orf216	uc001bzh.1,p.F35Y|ENST00000270815,p.F35Y|NM_152374,p.F35Y|uc021oli.1,p.F35Y	protein_coding, processed_transcript	uc021oli.1	nonsynonymous SNV	exon1	c.T104A	p.F35Y	CQPELQPDSNSNFMASAKDANENWH	CQPELQPDSNSNYMASAKDANENWH	6.0	5.0	unscreened	-	2224_1:36181819-36181819 A>T_CQPELQPDSNSNYMASAKDANENWH
3:36547304-36547304 G>A	0.0	2224	MELANOMA	-	-	ID=COSM108598;OCCURENCE=1(skin)	-	STAC	ENST00000434649,p.E228K|uc011aya.1,p.E239K|NM_003149,p.E300K|uc003cgh.1,p.E300K|ENST00000457375,p.E239K|NM_001292049,p.E239K|ENST00000273183,p.E300K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011aya.1	nonsynonymous SNV	exon6	c.G715A	p.E239K	NTYVALYKFVPQENEDLEMRPGDII	NTYVALYKFVPQKNEDLEMRPGDII	3.0	4.0	unscreened	-	2224_3:36547304-36547304 G>A_NTYVALYKFVPQKNEDLEMRPGDII
11:55579870-55579870 C>T	0.0	2224	MELANOMA	-	-	ID=COSM106604;OCCURENCE=2(skin)	-	OR5L1	NM_001004738,p.H310Y|uc001nhw.1,p.H310Y|ENST00000333973,p.H310Y	protein_coding	uc001nhw.1	nonsynonymous SNV	exon1	c.C928T	p.H310Y	KEALRKVMGSKIHS	KEALRKVMGSKIYS	1.0	8.0	unscreened	-	2224_11:55579870-55579870 C>T_KEALRKVMGSKIYS
19:57646552-57646552 G>A	0.0	2224	MELANOMA	-	-	ID=COSM106882;OCCURENCE=1(skin)	-	ZIM3	ENST00000269834,p.H385Y|NM_052882,p.H385Y|uc002qnz.1,p.H385Y	protein_coding	uc002qnz.1	nonsynonymous SNV	exon5	c.C1153T	p.H385Y	IQKKNLIQHKKIHTGEKPYECNRCG	IQKKNLIQHKKIYTGEKPYECNRCG	1.0	4.0	unscreened	-	2224_19:57646552-57646552 G>A_IQKKNLIQHKKIYTGEKPYECNRCG
18:40854357-40854357 C>T	0.0	2224	MELANOMA	-	-	ID=COSM109930,COSM109931;OCCURENCE=1(skin)	-	SYT4	ENST00000593720,p.M1I	protein_coding, processed_transcript	ENST00000593720	nonsynonymous SNV	exon2	c.G3A	p.M1I	MKSPQWWGSSVHL	IKSPQWWGSSVHL	1.0	6.0	unscreened	-	2224_18:40854357-40854357 C>T_IKSPQWWGSSVHL
17:42340052-42340052 C>T	0.0	2224	MELANOMA	-	-	-	-	SLC4A1	uc002igf.4,p.E20K|ENST00000262418,p.E20K|NM_000342,p.E20K|uc021tyc.1,p.E20K	retained_intron, protein_coding, processed_transcript	uc021tyc.1	nonsynonymous SNV	exon2	c.G58A	p.E20K	YEDMMEENLEQEEYEDPDIPESQME	YEDMMEENLEQEKYEDPDIPESQME	1.0	5.0	unscreened	-	2224_17:42340052-42340052 C>T_YEDMMEENLEQEKYEDPDIPESQME
10:89720799-89720802 TACT>-	0.0	2224	MELANOMA	-	-	ID=COSM4898;OCCURENCE=1(prostate),6(skin),4(breast),20(endometrium),1(soft_tissue),1(lung),3(central_nervous_system)	1	PTEN	NM_000314,p.V317fs|ENST00000371953,p.V317fs|uc001kfb.3,p.V317fs	protein_coding, processed_transcript	uc001kfb.3	frameshift deletion	exon8	c.950_953del	p.V317fs	SIERADNDKEYLVLTLTKNDLDKAN	SIERADNDKEYLVL	9.0	9.0	unscreened	-	2224_10:89720799-89720802 TACT>-_SIERADNDKEYLVL
1:45205650-45205650 G>A	1.0	2359	MELANOMA	-	-	ID=COSM414888;OCCURENCE=1(urinary_tract)	-	KIF2C	ENST00000372224,p.A16T|uc010olb.2,p.A16T|uc001cmg.4,p.A16T|ENST00000372218,p.A16T|NM_001297655,p.A16T|NM_006845,p.A16T|ENST00000452259,p.A16T	protein_coding, processed_transcript	uc010olb.2	nonsynonymous SNV	exon1	c.G46A	p.A16T	DSSLQARLFPGLAIKIQRSNGLIHS	DSSLQARLFPGLTIKIQRSNGLIHS	8.0	9.0	CD8	-	2359_1:45205650-45205650 G>A_DSSLQARLFPGLTIKIQRSNGLIHS
3:39453240-39453240 A>G	0.0	2359	MELANOMA	-	-	-	-	RPSA	NM_002295,p.D200G|ENST00000458478,p.D200G|NM_001012321,p.D200G|ENST00000443003,p.D205G|uc003cjq.3,p.D205G|uc003cjp.3,p.D200G|ENST00000301821,p.D200G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003cjq.3	nonsynonymous SNV	exon5	c.A614G	p.D205G	TISREHPWEVMPDLYFYRDPEEIEK	TISREHPWEVMPGLYFYRDPEEIEK	10.0	3.0	unscreened	-	2359_3:39453240-39453240 A>G_TISREHPWEVMPGLYFYRDPEEIEK
12:93210027-93210027 T>G	1.0	2359	MELANOMA	-	-	-	-	EEA1	NM_003566,p.L626F|ENST00000322349,p.L626F|uc001tck.3,p.L626F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001tck.3	nonsynonymous SNV	exon15	c.A1878C	p.L626F	DRVLSLETSVNELNSQLNESKEKVS	DRVLSLETSVNEFNSQLNESKEKVS	8.0	6.0	-	-	2359_12:93210027-93210027 T>G_DRVLSLETSVNEFNSQLNESKEKVS
3:100014010-100014010 C>A	1.0	2359	MELANOMA	-	-	-	-	TBC1D23	uc003dts.4,p.P227Q|NM_018309,p.P227Q|ENST00000394144,p.P227Q|NM_001199198,p.P227Q|ENST00000344949,p.P227Q|uc003dtt.4,p.P227Q|ENST00000475134,p.P90Q	retained_intron, protein_coding, processed_transcript	uc003dtt.4	nonsynonymous SNV	exon6	c.C680A	p.P227Q	QAIWDGYLQQADPFFIYFLMLIILV	QAIWDGYLQQADQFFIYFLMLIILV	8.0	4.0	-	-	2359_3:100014010-100014010 C>A_QAIWDGYLQQADQFFIYFLMLIILV
14:65208499-65208499 C>T	1.0	2359	MELANOMA	-	-	-	-	PLEKHG3	uc001xhp.2,p.S876F|ENST00000484731,p.S260F|uc010aqh.1,p.S297F|uc001xhn.1,p.S699F|uc001xho.1,p.S755F|ENST00000471182,p.S288F|ENST00000247226,p.S699F|NM_015549,p.S699F|uc001xhq.1,p.S260F|ENST00000394691,p.S755F	retained_intron, protein_coding, processed_transcript	uc010aqh.1	nonsynonymous SNV	exon10	c.C890T	p.S297F	SYIPKGLVRNSISRFNSLPRPDPEP	SYIPKGLVRNSIFRFNSLPRPDPEP	8.0	3.0	-	-	2359_14:65208499-65208499 C>T_SYIPKGLVRNSIFRFNSLPRPDPEP
20:46264855-46264855 C>G	1.0	2359	MELANOMA	-	-	-	-	NCOA3	ENST00000341724,p.C585W|NM_001174088,p.C585W|ENST00000371997,p.C585W|uc010ght.2,p.C585W|NM_181659,p.C575W|uc002xtn.3,p.C575W|NM_001174087,p.C575W|ENST00000371998,p.C575W|NM_006534,p.C575W|uc002xtl.3,p.C575W|uc002xtm.3,p.C575W|uc002xtk.3,p.C575W|ENST00000372004,p.C575W|uc010zyc.2,p.C370W	protein_coding, processed_transcript	uc010zyc.2	nonsynonymous SNV	exon7	c.C1110G	p.C370W	SNQDSKSPLGFYCDQNPVESSMCQS	SNQDSKSPLGFYWDQNPVESSMCQS	8.0	6.0	unscreened	-	2359_20:46264855-46264855 C>G_SNQDSKSPLGFYWDQNPVESSMCQS
8:37720583-37720583 C>T	1.0	2359	MELANOMA	-	-	-	-	RAB11FIP1	uc003xkl.2,p.D557N|ENST00000522727,p.D446N|NM_001002814,p.D1228N|uc003xkn.2,p.D594N|uc003xkm.2,p.D1228N|ENST00000287263,p.D594N|NM_025151,p.D594N|ENST00000330843,p.D1228N	retained_intron, protein_coding, processed_transcript	uc003xkn.2	nonsynonymous SNV	exon5	c.G1780A	p.D594N	SDPAFAYAQLTHDELIQLVLKQKET	SDPAFAYAQLTHNELIQLVLKQKET	8.0	4.0	unscreened	-	2359_8:37720583-37720583 C>T_SDPAFAYAQLTHNELIQLVLKQKET
11:67168211-67168211 C>T	1.0	2359	MELANOMA	-	-	-	-	PPP1CA	ENST00000358239,p.G79R|uc001okx.1,p.G211R|ENST00000527663,p.G123R|NM_206873,p.G79R|uc001oku.1,p.G134R|uc001okw.1,p.G123R|ENST00000376745,p.G123R|uc001okv.1,p.G79R|NM_001008709,p.G134R|NM_002708,p.G123R|ENST00000312989,p.G134R	retained_intron, protein_coding, processed_transcript	uc001okx.1	nonsynonymous SNV	exon4	c.G631A	p.G211R	KIKYPENFFLLRGNHECASINRIYG	KIKYPENFFLLRRNHECASINRIYG	10.0	4.0	-	-	2359_11:67168211-67168211 C>T_KIKYPENFFLLRRNHECASINRIYG
7:92761672-92761672 G>A	0.0	2359	MELANOMA	-	-	-	-	SAMD9L	ENST00000437805,p.L1205F|ENST00000318238,p.L1205F|uc003umj.1,p.L1205F|uc003umk.1,p.L1205F|ENST00000411955,p.L1205F|uc022ahh.1,p.L1205F|NM_152703,p.L1205F|uc010lfb.1,p.L1205F|uc010lfc.1,p.L1205F|uc003umh.1,p.L1205F|uc010lfd.1,p.L1205F|uc003umi.1,p.L1205F	protein_coding, processed_transcript	uc022ahh.1	nonsynonymous SNV	exon1	c.C3613T	p.L1205F	NTACFLGEIEVGLYTIQILQLTPFF	NTACFLGEIEVGFYTIQILQLTPFF	5.0	7.0	-	-	2359_7:92761672-92761672 G>A_NTACFLGEIEVGFYTIQILQLTPFF
11:17190639-17190639 G>A	1.0	2359	MELANOMA	-	-	-	-	PIK3C2A	ENST00000265970,p.P217L|uc010rcx.1,p.P217L|uc009ygv.1,p.P217L|uc001mmq.4,p.P217L|NM_002645,p.P217L|ENST00000533645,p.P217L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010rcx.1	nonsynonymous SNV	exon2	c.C650T	p.P217L	PFHPQGSLPIYRPVVSTDMAKLFDK	PFHPQGSLPIYRLVVSTDMAKLFDK	8.0	9.0	-	-	2359_11:17190639-17190639 G>A_PFHPQGSLPIYRLVVSTDMAKLFDK
9:27562392-27562392 G>A	1.0	2359	MELANOMA	-	-	-	-	C9orf72	NM_001256054,p.P196L|ENST00000379997,p.P196L|uc003zqq.3,p.P196L|uc022bfa.2,p.P196L|ENST00000380003,p.P196L|NM_018325,p.P196L|ENST00000379995,p.P196L|NM_145005,p.P196L|uc003zqr.2,p.P196L	protein_coding, processed_transcript	uc022bfa.2	nonsynonymous SNV	exon4	c.C587T	p.P196L	MELLSSMKSHSVPEEIDIADTVLND	MELLSSMKSHSVLEEIDIADTVLND	7.0	9.0	-	-	2359_9:27562392-27562392 G>A_MELLSSMKSHSVLEEIDIADTVLND
6:136597078-136597078 C>T	0.0	2359	MELANOMA	-	-	-	2	BCLAF1	uc003qgy.1,p.E527K|uc003qgw.1,p.E356K|NM_001301038,p.E527K|ENST00000527759,p.E527K|NM_001077440,p.E527K|ENST00000532384,p.E529K|ENST00000527613,p.E529K|ENST00000353331,p.E527K|ENST00000531224,p.E529K|ENST00000392348,p.E527K|NM_001077441,p.E356K|ENST00000530767,p.E356K|ENST00000534269,p.E354K|NM_014739,p.E529K|ENST00000530429,p.E527K|ENST00000529826,p.E529K|ENST00000527536,p.E529K|uc003qgx.1,p.E529K|uc011ede.1,p.E527K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ede.1	nonsynonymous SNV	exon5	c.G1579A	p.E527K	KNLDAREKSTFREESPLRIKMIASD	KNLDAREKSTFRKESPLRIKMIASD	10.0	2.0	-	-	2359_6:136597078-136597078 C>T_KNLDAREKSTFRKESPLRIKMIASD
16:58616794-58616794 G>A	1.0	2359	MELANOMA	-	-	-	-	CNOT1	NM_001265612,p.P316L|uc002enx.4,p.P316L|uc002env.4,p.P316L|uc002enu.5,p.P316L|ENST00000567188,p.P316L|NM_016284,p.P316L|NM_206999,p.P316L|ENST00000441024,p.P316L|ENST00000317147,p.P316L|ENST00000569240,p.P316L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002enx.4	nonsynonymous SNV	exon10	c.C947T	p.P316L	LTDGIPLQSISAPGSGIWSDGKDKS	LTDGIPLQSISALGSGIWSDGKDKS	10.0	7.0	-	-	2359_16:58616794-58616794 G>A_LTDGIPLQSISALGSGIWSDGKDKS
7:45142964-45142964 G>A	1.0	2359	MELANOMA	-	-	-	-	TBRG4	uc011kcd.3,p.H393Y|NM_001261834,p.H393Y|uc003tmu.3,p.H207Y|ENST00000494076,p.H382Y|ENST00000395655,p.H272Y|uc003tmw.4,p.H272Y|NM_030900,p.H272Y|NM_199122,p.H272Y|uc003tmx.4,p.H272Y|uc003tmv.4,p.H382Y|ENST00000258770,p.H382Y|ENST00000361278,p.H272Y|NM_004749,p.H382Y	retained_intron, protein_coding, processed_transcript	uc011kcd.3	nonsynonymous SNV	exon6	c.C1177T	p.H393Y	CSVLLAFARLNFHPDQEDQFFSLVH	CSVLLAFARLNFYPDQEDQFFSLVH	10.0	4.0	-	-	2359_7:45142964-45142964 G>A_CSVLLAFARLNFYPDQEDQFFSLVH
13:110825103-110825103 C>T	1.0	2359	MELANOMA	-	-	-	-	COL4A1	ENST00000375820,p.G1174R|uc001vqw.4,p.G1174R|NM_001845,p.G1174R	protein_coding, processed_transcript	uc001vqw.4	nonsynonymous SNV	exon41	c.G3520A	p.G1174R	AGEKGEPGLPGRGFPGFPGAKGDKG	AGEKGEPGLPGRRFPGFPGAKGDKG	8.0	5.0	-	-	2359_13:110825103-110825103 C>T_AGEKGEPGLPGRRFPGFPGAKGDKG
1:181003208-181003208 C>T	0.0	2359	MELANOMA	-	-	ID=COSM3803069;OCCURENCE=1(breast)	-	MR1	NM_001195000,p.S22F|uc001gop.3,p.S22F|uc001gos.2,p.S22F|ENST00000282990,p.S22F|uc010pns.2,p.S22F|uc001goq.2,p.S22F|ENST00000367579,p.S22F|NM_001195035,p.S22F|ENST00000367580,p.S22F|uc001gor.2,p.S22F|NM_001531,p.S22F|ENST00000434571,p.S22F|NM_001194999,p.S22F	retained_intron, protein_coding, processed_transcript	uc010pns.2	nonsynonymous SNV	exon2	c.C65T	p.S22F	PLIIVLMVKHSDSRTHSLRYFRLGV	PLIIVLMVKHSDFRTHSLRYFRLGV	7.0	2.0	unscreened	-	2359_1:181003208-181003208 C>T_PLIIVLMVKHSDFRTHSLRYFRLGV
4:177113864-177113864 G>A	0.0	2359	MELANOMA	-	-	-	-	SPATA4	uc003iuo.1,p.P201L|ENST00000280191,p.P201L|ENST00000515234,p.P28L|NM_144644,p.P201L	protein_coding, nonsense_mediated_decay	uc003iuo.1	nonsynonymous SNV	exon4	c.C602T	p.P201L	KDNIRLSELLSNPNMLTNELKAEFL	KDNIRLSELLSNLNMLTNELKAEFL	1.0	2.0	-	-	2359_4:177113864-177113864 G>A_KDNIRLSELLSNLNMLTNELKAEFL
1:153916730-153916730 G>A	1.0	2359	MELANOMA	-	-	-	-	DENND4B	ENST00000368646,p.P52S|NM_014856,p.P41S|ENST00000361217,p.P41S|uc001fdd.1,p.P41S	retained_intron, protein_coding, processed_transcript	uc001fdd.1	nonsynonymous SNV	exon2	c.C121T	p.P41S	TWVPEPSGPLRPPRPAEPITDVAVI	TWVPEPSGPLRPSRPAEPITDVAVI	9.0	3.0	-	-	2359_1:153916730-153916730 G>A_TWVPEPSGPLRPSRPAEPITDVAVI
2:3391705-3391705 C>T	1.0	2359	MELANOMA	-	-	-	-	TRAPPC12	ENST00000324266,p.P104L|uc002qxm.1,p.P104L|NM_016030,p.P104L|uc010ewm.1,p.P104L|ENST00000382110,p.P104L|uc002qxn.1,p.P104L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ewm.1	nonsynonymous SNV	exon1	c.C311T	p.P104L	AEPGGEGDPGPEPAGTPSPSGEADG	AEPGGEGDPGPELAGTPSPSGEADG	7.0	9.0	-	-	2359_2:3391705-3391705 C>T_AEPGGEGDPGPELAGTPSPSGEADG
3:170802027-170802027 T>C	1.0	2359	MELANOMA	-	-	ID=COSM3846728,COSM3846727;OCCURENCE=1(breast)	-	TNIK	uc003fhi.2,p.N974S|ENST00000284483,p.N1021S|ENST00000357327,p.N1000S|NM_001161560,p.N1021S|ENST00000470834,p.N992S|ENST00000436636,p.N1029S|uc003fho.2,p.N937S|uc003fhh.2,p.N1029S|uc003fhg.2,p.N207S|ENST00000538048,p.N981S|ENST00000369326,p.N1007S|uc003fhm.2,p.N966S|NM_001161564,p.N966S|uc003fhk.2,p.N1021S|ENST00000475336,p.N937S|ENST00000488470,p.N974S|ENST00000341852,p.N945S|NM_001161566,p.N937S|uc003fhn.2,p.N992S|NM_001161562,p.N992S|ENST00000460047,p.N966S|NM_015028,p.N1029S|uc003fhl.2,p.N945S|NM_001161565,p.N945S|NM_001161561,p.N1000S|uc003fhj.2,p.N1000S|NM_001161563,p.N974S	retained_intron, protein_coding, processed_transcript	uc003fho.2	nonsynonymous SNV	exon23	c.A2810G	p.N937S	ARKISVVNVNPTNIRPHSDTPEIRK	ARKISVVNVNPTSIRPHSDTPEIRK	7.0	4.0	-	-	2359_3:170802027-170802027 T>C_ARKISVVNVNPTSIRPHSDTPEIRK
7:142572682-142572682 G>A	0.0	2359	MELANOMA	-	-	-	-	TRPV6	ENST00000359396,p.L421F|uc003wbw.1,p.L207F|NM_018646,p.L421F|uc003wbx.2,p.L421F|ENST00000436401,p.L44F|uc010lou.1,p.L292F	retained_intron, protein_coding	uc010lou.1	nonsynonymous SNV	exon7	c.C874T	p.L292F	RMGVTRFFGQTILGGPFHVLIITYA	RMGVTRFFGQTIFGGPFHVLIITYA	1.0	1.0	unscreened	-	2359_7:142572682-142572682 G>A_RMGVTRFFGQTIFGGPFHVLIITYA
20:46264857-46264857 A>T	1.0	2359	MELANOMA	-	-	-	-	NCOA3	uc002xtl.3,p.D576V|uc002xtk.3,p.D576V|NM_001174087,p.D576V|NM_001174088,p.D586V|NM_006534,p.D576V|ENST00000371998,p.D576V|uc010ght.2,p.D586V|NM_181659,p.D576V|uc002xtm.3,p.D576V|ENST00000341724,p.D586V|uc010zyc.2,p.D371V|uc002xtn.3,p.D576V|ENST00000372004,p.D576V|ENST00000371997,p.D586V	protein_coding, processed_transcript	uc010zyc.2	nonsynonymous SNV	exon7	c.A1112T	p.D371V	NQDSKSPLGFYCDQNPVESSMCQSN	NQDSKSPLGFYCVQNPVESSMCQSN	8.0	6.0	unscreened	-	2359_20:46264857-46264857 A>T_NQDSKSPLGFYCVQNPVESSMCQSN
X:49050630-49050630 G>A	0.0	2359	MELANOMA	-	-	-	-	SYP	ENST00000479808,p.P139L|ENST00000263233,p.P139L|ENST00000538567,p.P21L|uc011mmz.1,p.P21L|NM_003179,p.P139L|uc004dmz.1,p.P139L	retained_intron, protein_coding, nonsense_mediated_decay	uc011mmz.1	nonsynonymous SNV	exon3	c.C62T	p.P21L	FLQNKYRENNKGPMLDFLATAVFAF	FLQNKYRENNKGLMLDFLATAVFAF	4.0	4.0	unscreened	-	2359_X:49050630-49050630 G>A_FLQNKYRENNKGLMLDFLATAVFAF
7:2412349-2412349 T>C	1.0	2359	MELANOMA	-	-	-	-	EIF3B	uc003sly.3,p.F577L|uc003sma.3,p.F305L|NM_001037283,p.F577L|ENST00000360876,p.F577L|NM_003751,p.F577L|ENST00000397011,p.F577L|uc003slx.3,p.F577L	retained_intron, protein_coding	uc003sma.3	nonsynonymous SNV	exon11	c.T913C	p.F305L	IIAFAWEPNGSKFAVLHGEAPRISV	IIAFAWEPNGSKLAVLHGEAPRISV	10.0	5.0	-	-	2359_7:2412349-2412349 T>C_IIAFAWEPNGSKLAVLHGEAPRISV
7:73790575-73790575 C>T	0.0	2359	MELANOMA	-	-	-	-	CLIP2	NM_003388,p.S615F|uc003uam.3,p.S615F|ENST00000395060,p.S615F|ENST00000361545,p.S580F|ENST00000223398,p.S615F|uc003uan.3,p.S580F|NM_032421,p.S580F	retained_intron, protein_coding	uc003uan.3	nonsynonymous SNV	exon9	c.C1739T	p.S580F	TSENMGLMDNWKSKLDSLASDHQKS	TSENMGLMDNWKFKLDSLASDHQKS	5.0	1.0	-	-	2359_7:73790575-73790575 C>T_TSENMGLMDNWKFKLDSLASDHQKS
17:54990779-54990779 G>T	1.0	2359	MELANOMA	-	-	-	-	TRIM25	ENST00000572021,p.L19M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000572021	nonsynonymous SNV	exon1	c.C55A	p.L19M	CLVEHKTCSPASLSQASADLEHLQG	CLVEHKTCSPASMSQASADLEHLQG	9.0	8.0	unscreened	-	2359_17:54990779-54990779 G>T_CLVEHKTCSPASMSQASADLEHLQG
13:99566616-99566616 G>A	0.0	2359	MELANOMA	-	-	-	-	DOCK9	ENST00000448493,p.S321F|uc021rlw.1,p.S309F|ENST00000442173,p.S309F|NM_001130050,p.S309F|ENST00000339416,p.S310F|uc010tit.1,p.S310F|uc010afu.1,p.S125F|ENST00000376460,p.S309F|uc010tir.1,p.S310F|uc001vnt.2,p.S310F|uc001vnw.2,p.S309F|uc010tis.1,p.S309F|NM_001130049,p.S310F	protein_coding, processed_transcript	uc021rlw.1	nonsynonymous SNV	exon9	c.C926T	p.S309F	EDDEQSKLEGSGSGLDSYLPELAKS	EDDEQSKLEGSGFGLDSYLPELAKS	8.0	5.0	-	-	2359_13:99566616-99566616 G>A_EDDEQSKLEGSGFGLDSYLPELAKS
17:54990779-54990779 G>T	1.0	2359	MELANOMA	-	-	-	-	TRIM25	uc002iut.3,p.L191M|ENST00000537230,p.L191M|NM_005082,p.L191M|ENST00000316881,p.L191M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002iut.3	nonsynonymous SNV	exon1	c.C571A	p.L191M	CLVEHKTCSPASLSQASADLEATLR	CLVEHKTCSPASMSQASADLEATLR	9.0	8.0	-	-	2359_17:54990779-54990779 G>T_CLVEHKTCSPASMSQASADLEATLR
11:78381515-78381515 G>A	0.0	2359	MELANOMA	-	-	-	-	TENM4	uc001ozk.4,p.P184S|ENST00000278550,p.P1959S|NM_001098816,p.P1959S|ENST00000530738,p.P423S|uc001ozl.4,p.P1959S	retained_intron, protein_coding, processed_transcript	uc001ozl.4	nonsynonymous SNV	exon32	c.C5875T	p.P1959S	FDKNDRLSSVTMPNVARQTLETIRS	FDKNDRLSSVTMSNVARQTLETIRS	5.0	9.0	-	-	2359_11:78381515-78381515 G>A_FDKNDRLSSVTMSNVARQTLETIRS
5:178506626-178506626 C>T	0.0	2359	MELANOMA	-	-	-	-	ZNF354C	NM_014594,p.T398I|uc003mju.3,p.T398I|ENST00000315475,p.T398I	protein_coding	uc003mju.3	nonsynonymous SNV	exon5	c.C1193T	p.T398I	CLECGRTFTRIVTLIEHQRIHTGQK	CLECGRTFTRIVILIEHQRIHTGQK	4.0	9.0	-	-	2359_5:178506626-178506626 C>T_CLECGRTFTRIVILIEHQRIHTGQK
19:38934234-38934234 G>A	0.0	2359	MELANOMA	-	-	-	-	RYR1	NM_001042723,p.G103S|uc002oit.3,p.G103S|NM_000540,p.G103S|ENST00000355481,p.G103S|ENST00000360985,p.G103S|ENST00000359596,p.G103S|uc002oiu.3,p.G103S	retained_intron, protein_coding, nonsense_mediated_decay	uc002oiu.3	nonsynonymous SNV	exon4	c.G307A	p.G103S	SSQGGGHRTLLYGHAILLRHAHSRM	SSQGGGHRTLLYSHAILLRHAHSRM	3.0	2.0	-	-	2359_19:38934234-38934234 G>A_SSQGGGHRTLLYSHAILLRHAHSRM
10:55587279-55587279 C>T	0.0	2359	MELANOMA	-	-	ID=COSM465745,COSM465744,COSM1135025,COSM465743;OCCURENCE=1(kidney),1(haematopoietic_and_lymphoid_tissue)	-	PCDH15	ENST00000437009,p.R1343Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000437009	nonsynonymous SNV	exon30	c.G4028A	p.R1343Q	FKRRQAECTKTARIQAALPAAKPAV	FKRRQAECTKTAQIQAALPAAKPAV	1.0	9.0	unscreened	-	2359_10:55587279-55587279 C>T_FKRRQAECTKTAQIQAALPAAKPAV
10:55587279-55587279 C>T	0.0	2359	MELANOMA	-	-	ID=COSM465745,COSM465744,COSM1135025,COSM465743;OCCURENCE=1(kidney),1(haematopoietic_and_lymphoid_tissue)	-	PCDH15	uc021pqx.1,p.R1414Q|NM_001142764,p.R1414Q|NM_033056,p.R1414Q|ENST00000395445,p.R1421Q|uc010qht.2,p.R1421Q|uc010qhr.2,p.R1414Q|uc010qhx.1,p.R1343Q|uc010qhz.1,p.R1414Q|uc001jju.1,p.R1414Q|uc010qhy.1,p.R1419Q|uc021pqv.1,p.R1414Q|ENST00000395438,p.R1414Q|ENST00000409834,p.R1025Q|ENST00000373965,p.R1421Q|uc021pqy.1,p.R1414Q|NM_001142765,p.R1343Q|uc010qhq.2,p.R1419Q|NM_001142768,p.R1392Q|ENST00000320301,p.R1414Q|uc021pqw.1,p.R1426Q|uc010qia.1,p.R1392Q|NM_001142763,p.R1419Q|ENST00000361849,p.R1414Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqy.1	nonsynonymous SNV	exon31	c.G4241A	p.R1414Q	FKVRQAECTKTARIQAALPAAKPAV	FKVRQAECTKTAQIQAALPAAKPAV	1.0	9.0	-	-	2359_10:55587279-55587279 C>T_FKVRQAECTKTAQIQAALPAAKPAV
10:55587279-55587279 C>T	0.0	2359	MELANOMA	-	-	ID=COSM465745,COSM465744,COSM1135025,COSM465743;OCCURENCE=1(kidney),1(haematopoietic_and_lymphoid_tissue)	-	PCDH15	uc010qhw.1,p.R1374Q|uc021pqz.1,p.R1389Q|NM_001142767,p.R1374Q|uc010qib.1,p.R1389Q|NM_001142766,p.R1411Q|ENST00000395430,p.R1411Q|NM_001142773,p.R1389Q|ENST00000395432,p.R1374Q|ENST00000414778,p.R1416Q|uc010qhv.1,p.R1411Q|ENST00000395433,p.R1389Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqz.1	nonsynonymous SNV	exon29	c.G4166A	p.R1389Q	YRQRQAECTKTARIQAALPAAKPAV	YRQRQAECTKTAQIQAALPAAKPAV	1.0	9.0	-	-	2359_10:55587279-55587279 C>T_YRQRQAECTKTAQIQAALPAAKPAV
2:108622514-108622514 G>A	0.0	2359	MELANOMA	-	-	-	-	SLC5A7	NM_021815,p.G251R|uc002tdv.3,p.G251R|ENST00000540517,p.G146R|uc010fjj.3,p.G251R|ENST00000264047,p.G251R|uc010ywn.2,p.G138R|ENST00000409059,p.G251R	protein_coding	uc010ywn.2	nonsynonymous SNV	exon6	c.G412A	p.G138R	SWLDSFLLLMLGGIPWQAYFQRVLS	SWLDSFLLLMLGRIPWQAYFQRVLS	1.0	7.0	-	-	2359_2:108622514-108622514 G>A_SWLDSFLLLMLGRIPWQAYFQRVLS
1:225459731-225459731 C>T	0.0	2359	MELANOMA	-	-	-	-	DNAH14	uc001how.2,p.P2593S|ENST00000430092,p.P2593S|NM_001373,p.P2593S|ENST00000439375,p.P2593S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001how.2	nonsynonymous SNV	exon51	c.C7777T	p.P2593S	IYHQVRQNMLPTPTKCHYMFNLRDM	IYHQVRQNMLPTSTKCHYMFNLRDM	8.0	2.0	-	-	2359_1:225459731-225459731 C>T_IYHQVRQNMLPTSTKCHYMFNLRDM
1:75683641-75683641 G>A	0.0	2359	MELANOMA	-	-	-	-	SLC44A5	uc001dgt.2,p.H512Y|NM_152697,p.H512Y|uc010oqz.1,p.H551Y|NM_001130058,p.H512Y|uc001dgs.2,p.H470Y|ENST00000370855,p.H512Y|uc001dgu.3,p.H512Y|ENST00000535611,p.H382Y|ENST00000370859,p.H512Y|uc010ora.2,p.H506Y|uc001dgr.2,p.H470Y|uc010orb.2,p.H382Y	protein_coding, processed_transcript	uc010orb.2	nonsynonymous SNV	exon16	c.C1144T	p.H382Y	PLFTAFGRAIRYHTGSLAFGSLIIA	PLFTAFGRAIRYYTGSLAFGSLIIA	1.0	9.0	-	-	2359_1:75683641-75683641 G>A_PLFTAFGRAIRYYTGSLAFGSLIIA
19:9046257-9046257 A>G	0.0	2359	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.F11792L|NM_024690,p.F11792L|uc002mkp.3,p.F11792L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon5	c.T35374C	p.F11792L	TETSKTFPASTVFPQVSETTASLTI	TETSKTFPASTVLPQVSETTASLTI	1.0	8.0	unscreened	-	2359_19:9046257-9046257 A>G_TETSKTFPASTVLPQVSETTASLTI
2:71817395-71817395 C>T	0.0	2359	MELANOMA	-	-	-	-	DYSF	uc010fek.3,p.A1184V|NM_001130983,p.A1167V|ENST00000410041,p.A1184V|ENST00000409744,p.A1153V|uc002sif.3,p.A1167V|NM_001130455,p.A1167V|NM_001130984,p.A1153V|uc010feh.3,p.A1152V|ENST00000409762,p.A1183V|ENST00000394120,p.A1167V|uc010fee.3,p.A1166V|NM_001130982,p.A1198V|uc002sig.4,p.A1152V|uc010fen.3,p.A1184V|uc010fef.3,p.A1183V|ENST00000413539,p.A1197V|NM_001130979,p.A1197V|ENST00000409582,p.A1183V|NM_001130980,p.A1183V|ENST00000258104,p.A1166V|uc010fej.3,p.A1153V|NM_001130981,p.A1183V|NM_001130976,p.A1152V|uc010feo.3,p.A1198V|NM_001130977,p.A1152V|ENST00000429174,p.A1166V|NM_001130978,p.A1166V|uc010fem.3,p.A1167V|ENST00000409651,p.A1198V|ENST00000409366,p.A1167V|NM_001130987,p.A1184V|ENST00000410020,p.A1184V|NM_001130986,p.A1153V|uc010feg.3,p.A1197V|NM_003494,p.A1166V|uc002sie.3,p.A1166V|uc010yqy.2,p.A47V|uc010fel.3,p.A1153V|NM_001130985,p.A1184V|uc010fei.3,p.A1183V	protein_coding, processed_transcript	uc010yqy.2	nonsynonymous SNV	exon3	c.C140T	p.A47V	LRCYMYQARDLAAMDKDSFSDPYAI	LRCYMYQARDLAVMDKDSFSDPYAI	4.0	1.0	unscreened	-	2359_2:71817395-71817395 C>T_LRCYMYQARDLAVMDKDSFSDPYAI
9:99581011-99581011 T>C	0.0	2359	MELANOMA	-	-	-	-	ZNF782	ENST00000481138,p.S432G|NM_001001662,p.S432G|ENST00000535338,p.S300G|uc004awp.1,p.S432G|uc011lup.1,p.S300G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lup.1	nonsynonymous SNV	exon3	c.A898G	p.S300G	KPYKCDGCDKAFSAKSGLRIHQRTH	KPYKCDGCDKAFGAKSGLRIHQRTH	5.0	1.0	-	-	2359_9:99581011-99581011 T>C_KPYKCDGCDKAFGAKSGLRIHQRTH
19:8842148-8842148 G>A	0.0	2359	MELANOMA	-	-	-	-	OR2Z1	ENST00000324060,p.G253D|NM_001004699,p.G253D|uc010xkg.2,p.G253D	protein_coding	uc010xkg.2	nonsynonymous SNV	exon1	c.G758A	p.G253D	CSSHITVVGLFYGAAVFMYMVPCAY	CSSHITVVGLFYDAAVFMYMVPCAY	1.0	8.0	-	-	2359_19:8842148-8842148 G>A_CSSHITVVGLFYDAAVFMYMVPCAY
7:143043696-143043696 C>T	0.0	2359	MELANOMA	-	-	-	-	CLCN1	ENST00000343257,p.S770F|uc011ktc.1,p.S382F|NM_000083,p.S770F|uc003wcr.1,p.S770F	protein_coding, processed_transcript, nonsense_mediated_decay	uc011ktc.1	nonsynonymous SNV	exon18	c.C1145T	p.S382F	PEPAGQRPSIFQSLLHCLLGRARPT	PEPAGQRPSIFQFLLHCLLGRARPT	1.0	1.0	unscreened	-	2359_7:143043696-143043696 C>T_PEPAGQRPSIFQFLLHCLLGRARPT
11:99690461-99690461 A>G	0.0	2359	MELANOMA	-	-	-	-	CNTN5	NM_001243270,p.N81S|ENST00000524871,p.N81S|uc001pfz.3,p.N81S|uc021qpb.1,p.N81S|ENST00000279463,p.N81S|NM_001243271,p.N81S|ENST00000527185,p.N81S|uc001pga.3,p.N81S|ENST00000528682,p.N81S|uc009ywv.2,p.N81S|NM_014361,p.N81S	retained_intron, protein_coding, processed_transcript	uc021qpb.1	nonsynonymous SNV	exon3	c.A242G	p.N81S	WLGAAQNYYSPINLYHSSDAFKQDE	WLGAAQNYYSPISLYHSSDAFKQDE	1.0	1.0	unscreened	-	2359_11:99690461-99690461 A>G_WLGAAQNYYSPISLYHSSDAFKQDE
6:138656099-138656099 C>T	0.0	2359	MELANOMA	-	-	-	-	KIAA1244	uc003qhu.3,p.S2039F|ENST00000251691,p.S2039F|NM_020340,p.S2039F	protein_coding	uc003qhu.3	nonsynonymous SNV	exon33	c.C6116T	p.S2039F	TEYKKRKQQHNLSAFPKEVKVEKKG	TEYKKRKQQHNLFAFPKEVKVEKKG	5.0	2.0	-	-	2359_6:138656099-138656099 C>T_TEYKKRKQQHNLFAFPKEVKVEKKG
1:248512866-248512866 C>T	0.0	2359	MELANOMA	-	-	-	-	OR14C36	ENST00000317861,p.P264S|NM_001001918,p.P264S|uc010pzl.2,p.P264S	protein_coding	uc010pzl.2	nonsynonymous SNV	exon1	c.C790T	p.P264S	SCSSVYLRPPAIPAATQDLILSGFY	SCSSVYLRPPAISAATQDLILSGFY	1.0	2.0	-	-	2359_1:248512866-248512866 C>T_SCSSVYLRPPAISAATQDLILSGFY
X:125685873-125685873 G>A	0.0	2359	MELANOMA	-	-	-	-	DCAF12L1	uc004eul.3,p.P240L|NM_178470,p.P240L|uc022cds.1,p.P240L|ENST00000371126,p.P240L	protein_coding	uc022cds.1	nonsynonymous SNV	exon1	c.C719T	p.P240L	DDTVAWHSEVGLPVYAHIRPRDVEA	DDTVAWHSEVGLLVYAHIRPRDVEA	1.0	4.0	unscreened	-	2359_X:125685873-125685873 G>A_DDTVAWHSEVGLLVYAHIRPRDVEA
11:67925228-67925228 A>G	0.0	2359	MELANOMA	-	-	-	-	SUV420H1	uc001onn.1,p.V690A|NM_017635,p.V862A|uc009yse.1,p.V448A|uc009ysf.2,p.V622A|NM_001300908,p.V622A|uc001onm.1,p.V862A|ENST00000304363,p.V862A|NM_001300907,p.V690A	retained_intron, protein_coding, nonsense_mediated_decay	uc009ysf.2	nonsynonymous SNV	exon11	c.T1865C	p.V622A	IPLPPAKRLRLIVGKDSIDIDISSR	IPLPPAKRLRLIAGKDSIDIDISSR	8.0	9.0	-	-	2359_11:67925228-67925228 A>G_IPLPPAKRLRLIAGKDSIDIDISSR
17:11686991-11686991 G>A	0.0	2359	MELANOMA	-	-	-	-	DNAH9	NM_001372,p.E2583K|ENST00000262442,p.E2583K|uc010coo.3,p.E1877K|ENST00000454412,p.E2583K|uc002gne.3,p.E2583K	retained_intron, protein_coding, processed_transcript	uc010coo.3	nonsynonymous SNV	exon28	c.G5629A	p.E1877K	GHWYDRSKLSLKEITNVQYVSCMNP	GHWYDRSKLSLKKITNVQYVSCMNP	5.0	9.0	-	-	2359_17:11686991-11686991 G>A_GHWYDRSKLSLKKITNVQYVSCMNP
2:170066041-170066041 C>T	0.0	2359	MELANOMA	-	-	-	-	LRP2	NM_004525,p.G2131R|ENST00000263816,p.G2131R|uc002ues.3,p.G2131R	retained_intron, protein_coding, processed_transcript	uc002ues.3	nonsynonymous SNV	exon38	c.G6391A	p.G2131R	ASDNAIRRIKPDGSSLMNIVTHGIG	ASDNAIRRIKPDRSSLMNIVTHGIG	3.0	7.0	-	-	2359_2:170066041-170066041 C>T_ASDNAIRRIKPDRSSLMNIVTHGIG
20:20269379-20269379 A>G	0.0	2359	MELANOMA	-	-	-	-	CFAP61	NM_015585,p.R975G|ENST00000245957,p.R975G|uc002wru.3,p.R975G	protein_coding, processed_transcript, nonsense_mediated_decay	uc002wru.3	nonsynonymous SNV	exon23	c.A2923G	p.R975G	IDTNFHTNDIAIRAAGSLTKFSNRY	IDTNFHTNDIAIGAAGSLTKFSNRY	1.0	3.0	-	-	2359_20:20269379-20269379 A>G_IDTNFHTNDIAIGAAGSLTKFSNRY
5:79355696-79355696 G>A	0.0	2359	MELANOMA	-	-	-	-	THBS4	NM_003248,p.G319R|uc021yaw.1,p.G319R|ENST00000511733,p.G228R|ENST00000350881,p.G319R	protein_coding, processed_transcript	uc021yaw.1	nonsynonymous SNV	exon7	c.G955A	p.G319R	GFQCGPCPEGYTGNGITCIDVDECK	GFQCGPCPEGYTRNGITCIDVDECK	4.0	9.0	-	-	2359_5:79355696-79355696 G>A_GFQCGPCPEGYTRNGITCIDVDECK
5:38427308-38427308 C>T	0.0	2359	MELANOMA	-	-	-	-	EGFLAM	uc003jlc.2,p.H670Y|NM_182798,p.H436Y|uc003jle.2,p.H436Y|NM_001205301,p.H670Y|ENST00000397202,p.H36Y|ENST00000354891,p.H670Y|ENST00000322350,p.H670Y|uc003jlb.2,p.H670Y|uc003jlf.2,p.H36Y|NM_152403,p.H670Y|ENST00000336740,p.H436Y	retained_intron, protein_coding, nonsense_mediated_decay	uc003jlf.2	nonsynonymous SNV	exon4	c.C106T	p.H36Y	SKDFLSINLAGGHVEFRFDCGSGTG	SKDFLSINLAGGYVEFRFDCGSGTG	1.0	6.0	unscreened	-	2359_5:38427308-38427308 C>T_SKDFLSINLAGGYVEFRFDCGSGTG
19:5265166-5265166 G>A	1.0	2359	MELANOMA	-	-	ID=COSM142761;OCCURENCE=1(skin)	-	PTPRS	ENST00000588012,p.P141S|uc002mby.3,p.P141S|NM_130853,p.P141S|uc002mbw.3,p.P141S|ENST00000587303,p.P141S|uc002mbv.3,p.P141S|ENST00000372412,p.P141S|ENST00000348075,p.P141S|ENST00000262963,p.P141S|NM_130855,p.P141S|NM_130854,p.P141S|NM_002850,p.P141S|ENST00000353284,p.P141S|ENST00000592099,p.P141S|ENST00000357368,p.P141S|uc002mbu.1,p.P141S|uc010xin.2,p.P141S|uc002mbx.3,p.P141S	retained_intron, protein_coding, processed_transcript	uc010xin.2	nonsynonymous SNV	exon4	c.C421T	p.P141S	QLPSGFPNIDMGPQLKVVERTRTAT	QLPSGFPNIDMGSQLKVVERTRTAT	8.0	6.0	-	-	2359_19:5265166-5265166 G>A_QLPSGFPNIDMGSQLKVVERTRTAT
11:1017606-1017606 C>T	0.0	2359	MELANOMA	-	-	-	-	MUC6	uc001lsw.2,p.G1732E|NM_005961,p.G1732E|ENST00000421673,p.G1732E	protein_coding	uc001lsw.2	nonsynonymous SNV	exon31	c.G5195A	p.G1732E	STGTPPMTVTTSGTSQSRSSFSTAK	STGTPPMTVTTSETSQSRSSFSTAK	1.0	5.0	unscreened	-	2359_11:1017606-1017606 C>T_STGTPPMTVTTSETSQSRSSFSTAK
16:1604966-1604966 G>A	0.0	2359	MELANOMA	-	-	-	-	TMEM204	NM_001256541,p.R207H|ENST00000566264,p.R207H|NM_024600,p.R207H|ENST00000253934,p.R207H|uc002cmd.3,p.R207H|uc002cmc.3,p.R207H	protein_coding	uc002cmd.3	nonsynonymous SNV	exon3	c.G620A	p.R207H	EDCMAPRVIVISRSLTARFRRGLDN	EDCMAPRVIVISHSLTARFRRGLDN	2.0	7.0	-	-	2359_16:1604966-1604966 G>A_EDCMAPRVIVISHSLTARFRRGLDN
6:131904992-131904992 G>A	0.0	2359	MELANOMA	-	-	ID=COSM1073247;OCCURENCE=1(endometrium)	-	ARG1	uc010kfm.2,p.G313R|uc003qcp.2,p.G305R|NM_000045,p.G305R|ENST00000476845,p.G219R|NM_001244438,p.G313R|ENST00000356962,p.G313R|ENST00000368087,p.G305R	protein_coding, processed_transcript	uc010kfm.2	nonsynonymous SNV	exon8	c.G937A	p.G313R	VNTAVAITLACFGLAREGNHKPIDY	VNTAVAITLACFRLAREGNHKPIDY	1.0	7.0	-	-	2359_6:131904992-131904992 G>A_VNTAVAITLACFRLAREGNHKPIDY
5:140262802-140262802 G>A	0.0	2359	MELANOMA	-	-	ID=COSM589999;OCCURENCE=1(lung)	-	PCDHA13	uc003lie.1,p.E317K|ENST00000409494,p.E317K|uc003lid.3,p.E317K|NM_018904,p.E317K|NM_031865,p.E317K|ENST00000289272,p.E317K|uc003lif.2,p.E317K	protein_coding	uc003lif.2	nonsynonymous SNV	exon1	c.G949A	p.E317K	KGKLDFEEKKLYEISVEAVDKGNIP	KGKLDFEEKKLYKISVEAVDKGNIP	1.0	9.0	-	-	2359_5:140262802-140262802 G>A_KGKLDFEEKKLYKISVEAVDKGNIP
2:179642183-179642183 C>T	0.0	2359	MELANOMA	-	-	-	-	TTN	NM_001256850,p.G1537S|NM_133378,p.G1537S|NM_133379,p.G1537S|ENST00000591111,p.G1537S|NM_003319,p.G1491S|ENST00000342175,p.G1491S|NM_133437,p.G1491S|ENST00000342992,p.G1537S|uc002unb.3,p.G1537S|NM_001267550,p.G1537S|ENST00000589042,p.G1537S|ENST00000360870,p.G1537S|uc031rqd.1,p.G1537S|uc021vsz.2,p.G1491S|uc031rqc.1,p.G1537S|uc021vtb.2,p.G1491S|ENST00000460472,p.G1491S|uc021vsy.2,p.G1537S|ENST00000359218,p.G1491S|uc021vta.2,p.G1491S|NM_133432,p.G1491S	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon26	c.G4609A	p.G1537S	SGEWTVVAQNRAGRSSISVILTVEA	SGEWTVVAQNRASRSSISVILTVEA	2.0	3.0	unscreened	-	2359_2:179642183-179642183 C>T_SGEWTVVAQNRASRSSISVILTVEA
X:51639616-51639616 G>A	0.0	2359	MELANOMA	-	-	-	-	MAGED1	uc004dpm.3,p.G289S|NM_006986,p.G289S|uc004dpo.3,p.G289S|NM_001005332,p.G289S|ENST00000375722,p.G289S|ENST00000326587,p.G289S|uc004dpn.3,p.G345S|ENST00000375695,p.G345S|ENST00000375772,p.G289S|NM_001005333,p.G345S	protein_coding, processed_transcript	uc004dpo.3	nonsynonymous SNV	exon4	c.G865A	p.G289S	SAPVPVTTQNPPGAPPNVLWQTPLA	SAPVPVTTQNPPSAPPNVLWQTPLA	10.0	6.0	unscreened	-	2359_X:51639616-51639616 G>A_SAPVPVTTQNPPSAPPNVLWQTPLA
1:23219413-23219413 C>T	0.0	2359	MELANOMA	-	-	-	-	EPHB2	ENST00000374632,p.P489S|uc009vqj.1,p.P489S|uc001bgf.3,p.P489S|NM_017449,p.P489S|ENST00000374630,p.P489S|NM_004442,p.P489S|ENST00000374627,p.P484S|uc010odu.2,p.P489S|ENST00000400191,p.P489S|uc001bge.3,p.P489S	protein_coding, processed_transcript	uc010odu.2	nonsynonymous SNV	exon8	c.C1465T	p.P489S	ELSEYNATAIKSPTNTVTVQGLKAG	ELSEYNATAIKSSTNTVTVQGLKAG	3.0	8.0	-	-	2359_1:23219413-23219413 C>T_ELSEYNATAIKSSTNTVTVQGLKAG
4:187153295-187153295 C>T	0.0	2359	MELANOMA	-	-	-	-	KLKB1	ENST00000513864,p.L25F|ENST00000264690,p.L25F|uc003iyy.3,p.L25F|NM_000892,p.L25F|ENST00000428196,p.L25F	retained_intron, protein_coding	uc003iyy.3	nonsynonymous SNV	exon3	c.C73T	p.L25F	LFATVSCGCLTQLYENAFFRGGDVA	LFATVSCGCLTQFYENAFFRGGDVA	2.0	2.0	-	-	2359_4:187153295-187153295 C>T_LFATVSCGCLTQFYENAFFRGGDVA
2:228883985-228883985 G>A	0.0	2359	MELANOMA	-	-	-	-	SPHKAP	NM_030623,p.P529S|uc002vpq.2,p.P529S|uc010zlx.1,p.P529S|NM_001142644,p.P529S|ENST00000392056,p.P529S|ENST00000344657,p.P529S|uc002vpp.2,p.P529S	retained_intron, protein_coding	uc010zlx.1	nonsynonymous SNV	exon7	c.C1585T	p.P529S	ERLKMEQVVSNFPPGSSGALQTQAP	ERLKMEQVVSNFSPGSSGALQTQAP	1.0	1.0	unscreened	-	2359_2:228883985-228883985 G>A_ERLKMEQVVSNFSPGSSGALQTQAP
19:46996889-46996889 C>T	0.0	2359	MELANOMA	-	-	-	-	PNMAL2	NM_020709,p.A612T|uc002pes.2,p.A612T|ENST00000599531,p.A612T	protein_coding, processed_transcript	uc002pes.2	nonsynonymous SNV	exon1	c.G1834A	p.A612T	GAHARAGEAKGQAPTGSKAARGKKA	GAHARAGEAKGQTPTGSKAARGKKA	1.0	1.0	unscreened	-	2359_19:46996889-46996889 C>T_GAHARAGEAKGQTPTGSKAARGKKA
11:101375234-101375234 C>T	0.0	2359	MELANOMA	-	-	-	-	TRPC6	ENST00000360497,p.E156K|uc009ywz.1,p.E156K|ENST00000348423,p.E156K|uc001pgk.4,p.E156K|uc009ywy.3,p.E156K|ENST00000344327,p.E156K|ENST00000532133,p.E156K|NM_004621,p.E156K	retained_intron, protein_coding, processed_transcript	uc009ywz.1	nonsynonymous SNV	exon2	c.G466A	p.E156K	EHLEITELLLKKENLSRVGDALLLA	EHLEITELLLKKKNLSRVGDALLLA	1.0	9.0	-	-	2359_11:101375234-101375234 C>T_EHLEITELLLKKKNLSRVGDALLLA
16:30495230-30495230 G>A	0.0	2359	MELANOMA	-	-	ID=COSM3817792;OCCURENCE=1(breast)	-	ITGAL	uc002dyj.4,p.D186N|ENST00000356798,p.D269N|NM_001114380,p.D186N|ENST00000358164,p.D186N|ENST00000564118,p.D186N|NM_002209,p.D269N|uc002dyi.4,p.D269N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dyj.4	nonsynonymous SNV	exon6	c.G556A	p.D186N	KVLIIITDGEATDSGNIDAAKDIIR	KVLIIITDGEATNSGNIDAAKDIIR	3.0	1.0	-	-	2359_16:30495230-30495230 G>A_KVLIIITDGEATNSGNIDAAKDIIR
13:32878059-32878059 C>A	0.0	2359	MELANOMA	-	-	-	-	ZAR1L	NM_001136571,p.R308I|ENST00000345108,p.R308I|ENST00000533490,p.R308I|uc010abc.1,p.R308I	protein_coding	uc010abc.1	nonsynonymous SNV	exon4	c.G923T	p.R308I	HRQELCGRCKDKRFSCGNIYSFKYV	HRQELCGRCKDKIFSCGNIYSFKYV	3.0	3.0	-	-	2359_13:32878059-32878059 C>A_HRQELCGRCKDKIFSCGNIYSFKYV
1:94586549-94586549 C>T	0.0	2359	MELANOMA	-	-	-	-	ABCA4	ENST00000535735,p.R18Q|ENST00000370225,p.R18Q|uc001dqh.3,p.R18Q|uc010otn.1,p.R18Q|NM_000350,p.R18Q	protein_coding, processed_transcript	uc010otn.1	nonsynonymous SNV	exon1	c.G53A	p.R18Q	QIQLLLWKNWTLRKRQKIRFVVELV	QIQLLLWKNWTLQKRQKIRFVVELV	2.0	9.0	-	-	2359_1:94586549-94586549 C>T_QIQLLLWKNWTLQKRQKIRFVVELV
10:96443644-96443644 G>A	0.0	2359	MELANOMA	-	-	-	-	CYP2C18	ENST00000339022,p.S23N|uc001kjw.4,p.S23N|NM_000772,p.S23N|ENST00000285979,p.S23N|uc001kjv.4,p.S23N|NM_001128925,p.S23N	protein_coding, processed_transcript	uc001kjw.4	nonsynonymous SNV	exon1	c.G68A	p.S23N	LSCLFLLSLWRQSSGRGRLPSGPTP	LSCLFLLSLWRQNSGRGRLPSGPTP	1.0	9.0	-	-	2359_10:96443644-96443644 G>A_LSCLFLLSLWRQNSGRGRLPSGPTP
6:46826789-46826789 C>T	0.0	2359	MELANOMA	-	-	-	-	GPR116	ENST00000456426,p.E809K|uc003oyo.3,p.E951K|NM_015234,p.E951K|ENST00000545669,p.E380K|uc003oyp.3,p.E809K|ENST00000362015,p.E951K|uc011dwj.1,p.E506K|ENST00000265417,p.E951K|uc011dwk.1,p.E380K|uc010jzi.1,p.E623K|uc003oyq.3,p.E951K|ENST00000283296,p.E951K|NM_001098518,p.E951K	protein_coding, processed_transcript	uc011dwk.1	nonsynonymous SNV	exon7	c.G1138A	p.E380K	SMTFKNNSPSGGETKCVFWNFRLAN	SMTFKNNSPSGGKTKCVFWNFRLAN	1.0	8.0	-	-	2359_6:46826789-46826789 C>T_SMTFKNNSPSGGKTKCVFWNFRLAN
3:38739718-38739718 C>T	0.0	2359	MELANOMA	-	-	-	-	SCN10A	NM_001293307,p.G1567S|ENST00000449082,p.G1665S|NM_001293306,p.G1664S|uc003ciq.3,p.G1665S|NM_006514,p.G1665S	protein_coding	uc003ciq.3	nonsynonymous SNV	exon27	c.G4993A	p.G1665S	CLFQITTSAGWDGLLSPILNTGPPY	CLFQITTSAGWDSLLSPILNTGPPY	1.0	3.0	-	-	2359_3:38739718-38739718 C>T_CLFQITTSAGWDSLLSPILNTGPPY
7:100551275-100551275 C>A	0.0	2359	MELANOMA	-	-	-	-	MUC3A	ENST00000319509,p.T9K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000319509	nonsynonymous SNV	exon1	c.C26A	p.T9K	IYSTVSTSTTAITSHFTTSET	IYSTVSTSKTAITSHFTTSET	1.0	8.0	unscreened	-	2359_7:100551275-100551275 C>A_IYSTVSTSKTAITSHFTTSET
X:37027657-37027657 C>T	0.0	2359	MELANOMA	-	-	-	2	FAM47C	ENST00000358047,p.P392S|NM_001013736,p.P392S|uc004ddl.2,p.P392S	protein_coding	uc004ddl.2	nonsynonymous SNV	exon1	c.C1174T	p.P392S	PEPPKTRVPPLRPETPKNGVSPLFP	PEPPKTRVPPLRSETPKNGVSPLFP	1.0	4.0	unscreened	-	2359_X:37027657-37027657 C>T_PEPPKTRVPPLRSETPKNGVSPLFP
22:19906480-19906480 G>A	1.0	2359	MELANOMA	-	-	-	-	TXNRD2	ENST00000542719,p.P63S|uc002zqs.2,p.P61S|ENST00000334363,p.P93S|ENST00000535882,p.P92S|uc010grv.1,p.P93S|uc002zqr.1,p.P92S|NM_001282512,p.P93S	retained_intron, protein_coding, processed_transcript	uc010grv.1	nonsynonymous SNV	exon4	c.C277T	p.P93S	GLGGTCVNVGCIPKKLMHQAALLGG	GLGGTCVNVGCISKKLMHQAALLGG	8.0	7.0	unscreened	-	2359_22:19906480-19906480 G>A_GLGGTCVNVGCISKKLMHQAALLGG
19:54823149-54823149 C>T	0.0	2359	MELANOMA	-	-	-	-	LILRA5	uc010yew.2,p.E120K|NM_021250,p.E132K|ENST00000432233,p.E132K|uc002qfh.1,p.E120K|NM_181986,p.E120K|uc002qfe.3,p.E132K|NM_181985,p.E120K|ENST00000301219,p.E132K|ENST00000446712,p.E120K|uc002qff.3,p.E120K|uc002qfg.1,p.E132K|NM_181879,p.E132K|uc010yev.2,p.E132K|ENST00000346508,p.E120K	retained_intron, protein_coding	uc010yew.2	nonsynonymous SNV	exon3	c.G358A	p.E120K	SPAGWSEPSDPLELVVTGFYNKPTL	SPAGWSEPSDPLKLVVTGFYNKPTL	1.0	8.0	unscreened	-	2359_19:54823149-54823149 C>T_SPAGWSEPSDPLKLVVTGFYNKPTL
20:30584991-30584991 G>A	0.0	2359	MELANOMA	-	-	-	-	XKR7	ENST00000217299,p.E491K|NM_001011718,p.E491K|uc002wxe.3,p.E491K	protein_coding	uc002wxe.3	nonsynonymous SNV	exon3	c.G1471A	p.E491K	TTGAERDGASAGERAGTPTPPVFQV	TTGAERDGASAGKRAGTPTPPVFQV	1.0	5.0	-	-	2359_20:30584991-30584991 G>A_TTGAERDGASAGKRAGTPTPPVFQV
22:43820963-43820963 G>A	0.0	2359	MELANOMA	-	-	-	-	MPPED1	uc011apz.2,p.G24E|ENST00000538182,p.G24E	protein_coding, processed_transcript	uc011apz.2	nonsynonymous SNV	exon2	c.G71A	p.G24E	SGGGPGCGGGSGGRCRGGRRRSMWR	SGGGPGCGGGSGERCRGGRRRSMWR	1.0	3.0	unscreened	-	2359_22:43820963-43820963 G>A_SGGGPGCGGGSGERCRGGRRRSMWR
16:50263152-50263152 A>T	1.0	2359	MELANOMA	0.0023	-	-	-	PAPD5	uc010vgo.2,p.Q670H|NM_001040284,p.Q670H|uc002efz.3,p.Q623H|NM_001040285,p.Q623H|ENST00000561678,p.Q560H|ENST00000357464,p.Q591H|ENST00000436909,p.Q670H	protein_coding, processed_transcript	uc010vgo.2	nonsynonymous SNV	exon13	c.A2010T	p.Q670H	TQTSHGSLMTNKQHQGKSNNQYYHG	TQTSHGSLMTNKHHQGKSNNQYYHG	7.0	6.0	unscreened	-	2359_16:50263152-50263152 A>T_TQTSHGSLMTNKHHQGKSNNQYYHG
4:108817031-108817031 G>A	0.0	2359	MELANOMA	-	-	-	-	SGMS2	ENST00000394684,p.E108K|NM_001136258,p.E108K|NM_001136257,p.E108K|uc003hyn.3,p.E108K|NM_152621,p.E108K|uc003hyo.3,p.E108K|uc003hyl.4,p.E108K|ENST00000394686,p.E108K|ENST00000359079,p.E108K	protein_coding, processed_transcript	uc003hyo.3	nonsynonymous SNV	exon2	c.G322A	p.E108K	MITVVHERVPPKELSPPLPDKFFDY	MITVVHERVPPKKLSPPLPDKFFDY	5.0	5.0	-	-	2359_4:108817031-108817031 G>A_MITVVHERVPPKKLSPPLPDKFFDY
11:1017607-1017607 C>T	0.0	2359	MELANOMA	-	-	-	-	MUC6	uc001lsw.2,p.G1732R|NM_005961,p.G1732R|ENST00000421673,p.G1732R	protein_coding	uc001lsw.2	nonsynonymous SNV	exon31	c.G5194A	p.G1732R	STGTPPMTVTTSGTSQSRSSFSTAK	STGTPPMTVTTSRTSQSRSSFSTAK	1.0	5.0	unscreened	-	2359_11:1017607-1017607 C>T_STGTPPMTVTTSRTSQSRSSFSTAK
12:132549264-132549264 C>T	1.0	2359	MELANOMA	-	-	-	-	EP400	uc001ujn.3,p.P2796S|ENST00000389561,p.P2796S|uc001ujm.3,p.P2715S|ENST00000332482,p.P2759S|NM_015409,p.P2796S|ENST00000389562,p.P2795S|ENST00000333577,p.P2832S|uc001ujp.3,p.P13S|ENST00000330386,p.P2715S	protein_coding, processed_transcript	uc001ujp.3	nonsynonymous SNV	exon2	c.C37T	p.P13S	MQKQKLQMPPQPPPPQAQSAPPQPT	MQKQKLQMPPQPSPPQAQSAPPQPT	7.0	6.0	-	-	2359_12:132549264-132549264 C>T_MQKQKLQMPPQPSPPQAQSAPPQPT
X:3240874-3240874 G>A	0.0	2359	MELANOMA	-	-	ID=COSM282998,COSM282999;OCCURENCE=1(large_intestine)	-	MXRA5	ENST00000217939,p.S951L|uc004crg.4,p.S951L|NM_015419,p.S951L	protein_coding	uc004crg.4	nonsynonymous SNV	exon5	c.C2852T	p.S951L	TATEGWSAADVGSSPEPTSSEYEPP	TATEGWSAADVGLSPEPTSSEYEPP	1.0	5.0	unscreened	-	2359_X:3240874-3240874 G>A_TATEGWSAADVGLSPEPTSSEYEPP
19:53668635-53668635 C>T	0.0	2359	MELANOMA	-	-	-	-	ZNF665	NM_024733,p.G370S|uc010eqm.1,p.G370S|ENST00000396424,p.G370S|ENST00000600412,p.G305S	protein_coding, processed_transcript	uc010eqm.1	nonsynonymous SNV	exon4	c.G1108A	p.G370S	NSYLAKHRRIHTGEKPYKCNECGKA	NSYLAKHRRIHTSEKPYKCNECGKA	1.0	7.0	unscreened	-	2359_19:53668635-53668635 C>T_NSYLAKHRRIHTSEKPYKCNECGKA
1:16058923-16058923 C>T	1.0	2369	MELANOMA	-	-	-	-	PLEKHM2	ENST00000375799,p.H902Y|NM_015164,p.H902Y|uc010obo.2,p.H902Y|ENST00000375793,p.H882Y	protein_coding, processed_transcript	uc010obo.2	nonsynonymous SNV	exon18	c.C2704T	p.H902Y	CLVLTDDRLFTCHEDCQTSFFRSLG	CLVLTDDRLFTCYEDCQTSFFRSLG	9.0	4.0	CD8	-	2369_1:16058923-16058923 C>T_CLVLTDDRLFTCYEDCQTSFFRSLG
8:8998635-8998635 G>T	1.0	2369	MELANOMA	-	-	-	-	PPP1R3B	NM_024607,p.P176H|NM_001201329,p.P176H|uc022arp.1,p.P176H|uc003wso.4,p.P176H|ENST00000519699,p.P176H|ENST00000310455,p.P176H|uc003wsn.4,p.P176H	protein_coding	uc022arp.1	nonsynonymous SNV	exon1	c.C527A	p.P176H	MTFDTWKSYTDFPCQYVKDTYAGSD	MTFDTWKSYTDFHCQYVKDTYAGSD	9.0	4.0	CD8	-	2369_8:8998635-8998635 G>T_MTFDTWKSYTDFHCQYVKDTYAGSD
21:37661492-37661492 C>T	1.0	2369	MELANOMA	-	-	-	-	DOPEY2	ENST00000399151,p.P2168L|uc002yvg.3,p.P2168L|uc011aeb.2,p.P2117L|NM_005128,p.P2168L	retained_intron, protein_coding, processed_transcript	uc011aeb.2	nonsynonymous SNV	exon33	c.C6350T	p.P2117L	LDTALSFPPDKMPLFQIYRWAFIPE	LDTALSFPPDKMLLFQIYRWAFIPE	6.0	3.0	CD8	-	2369_21:37661492-37661492 C>T_LDTALSFPPDKMLLFQIYRWAFIPE
3:124732616-124732616 G>A	1.0	2369	MELANOMA	-	-	-	-	HEG1	uc003ehs.4,p.H603Y|uc011bke.2,p.H703Y|NM_020733,p.H603Y|ENST00000311127,p.H603Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bke.2	nonsynonymous SNV	exon7	c.C2107T	p.H703Y	SNSSHSEYSSFFHAQTERSNISSYD	SNSSHSEYSSFFYAQTERSNISSYD	6.0	6.0	-	-	2369_3:124732616-124732616 G>A_SNSSHSEYSSFFYAQTERSNISSYD
12:49176457-49176457 G>A	1.0	2369	MELANOMA	-	-	-	-	ADCY6	NM_015270,p.P254L|ENST00000357869,p.P254L|uc001rsh.4,p.P254L|ENST00000550422,p.P254L|uc001rsi.4,p.P254L|uc001rsj.4,p.P254L|NM_020983,p.P254L|ENST00000307885,p.P254L	retained_intron, protein_coding, processed_transcript	uc001rsj.4	nonsynonymous SNV	exon2	c.C761T	p.P254L	PVFFVYIAYTLLPIRMRAAVLSGLG	PVFFVYIAYTLLLIRMRAAVLSGLG	9.0	8.0	-	-	2369_12:49176457-49176457 G>A_PVFFVYIAYTLLLIRMRAAVLSGLG
19:49703582-49703582 G>A	1.0	2369	MELANOMA	-	-	-	-	TRPM4	NM_001195227,p.G746S|ENST00000427978,p.G746S|uc010emu.3,p.G746S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010emu.3	nonsynonymous SNV	exon17	c.G2236A	p.G746S	GPVGLTPGLYHLGRTVLCIDFMVFT	GPVGLTPGLYHLSRTVLCIDFMVFT	9.0	2.0	unscreened	-	2369_19:49703582-49703582 G>A_GPVGLTPGLYHLSRTVLCIDFMVFT
19:49703582-49703582 G>A	1.0	2369	MELANOMA	-	-	-	-	TRPM4	uc002pmw.3,p.G891S|uc002pmy.3,p.G233S|uc010yak.2,p.G355S|NM_017636,p.G891S|ENST00000252826,p.G891S|uc010yal.2,p.G537S|ENST00000355712,p.G537S|uc002pmx.3,p.G717S|uc010emv.3,p.G776S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yal.2	nonsynonymous SNV	exon13	c.G1609A	p.G537S	VGCRLTPGLYHLGRTVLCIDFMVFT	VGCRLTPGLYHLSRTVLCIDFMVFT	9.0	2.0	-	-	2369_19:49703582-49703582 G>A_VGCRLTPGLYHLSRTVLCIDFMVFT
1:201958514-201958514 C>T	1.0	2369	MELANOMA	-	-	-	-	RNPEP	ENST00000367286,p.P198S|uc001gxd.3,p.P198S|NM_020216,p.P198S|ENST00000447312,p.P67S|ENST00000295640,p.P198S	protein_coding, processed_transcript	uc001gxd.3	nonsynonymous SNV	exon3	c.C592T	p.P198S	AVKYKYSALIEVPDGFTAVMSASTW	AVKYKYSALIEVSDGFTAVMSASTW	10.0	6.0	-	-	2369_1:201958514-201958514 C>T_AVKYKYSALIEVSDGFTAVMSASTW
11:67799759-67799759 C>T	1.0	2369	MELANOMA	-	-	-	-	NDUFS8	ENST00000526446,p.P22L|uc010rpz.2,p.P22L|ENST00000529645,p.P19L|ENST00000526339,p.P22L|ENST00000313468,p.P22L|ENST00000525628,p.P22L|NM_002496,p.P22L|ENST00000453471,p.P22L|uc001onc.3,p.P22L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rpz.2	nonsynonymous SNV	exon3	c.C65T	p.P22L	LRALAQAARAGPPGGRSLHSSAVAA	LRALAQAARAGPLGGRSLHSSAVAA	10.0	6.0	-	-	2369_11:67799759-67799759 C>T_LRALAQAARAGPLGGRSLHSSAVAA
7:45141594-45141594 G>A	1.0	2369	MELANOMA	-	-	-	-	TBRG4	ENST00000361278,p.P356L|uc003tmu.3,p.P291L|ENST00000395655,p.P356L|NM_001261834,p.P477L|uc003tmw.4,p.P356L|NM_199122,p.P356L|uc003tmv.4,p.P466L|uc003tmx.4,p.P356L|ENST00000494076,p.P466L|uc011kcd.3,p.P477L|NM_004749,p.P466L|ENST00000258770,p.P466L|NM_030900,p.P356L	retained_intron, protein_coding, processed_transcript	uc011kcd.3	nonsynonymous SNV	exon8	c.C1430T	p.P477L	LLHINATALLEYPEYSGPLLPASAV	LLHINATALLEYLEYSGPLLPASAV	10.0	7.0	-	-	2369_7:45141594-45141594 G>A_LLHINATALLEYLEYSGPLLPASAV
7:82582375-82582375 G>A	1.0	2369	MELANOMA	-	-	-	-	PCLO	NM_014510,p.P2632S|ENST00000333891,p.P2632S|uc003uhv.2,p.P2632S|NM_033026,p.P2632S|ENST00000423517,p.P2632S|uc003uhx.2,p.P2632S	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon5	c.C7894T	p.P2632S	FSVVPPVTAVEIPISSEQTFYISGA	FSVVPPVTAVEISISSEQTFYISGA	10.0	8.0	-	-	2369_7:82582375-82582375 G>A_FSVVPPVTAVEISISSEQTFYISGA
5:42711337-42711337 C>T	1.0	2369	MELANOMA	-	-	-	-	GHR	NM_001242402,p.P216L|NM_001242405,p.P216L|uc021xya.1,p.P216L|uc021xxy.1,p.P216L|uc021xxz.1,p.P216L|uc021xxx.1,p.P216L|uc021xyd.1,p.P194L|NM_001242400,p.P216L|uc003jmt.3,p.P216L|NM_001242399,p.P223L|ENST00000537449,p.P29L|NM_001242401,p.P216L|uc021xyc.1,p.P216L|uc021xxw.1,p.P216L|NM_001242460,p.P194L|ENST00000357703,p.P194L|uc003jmv.2,p.P216L|uc003jmu.3,p.P216L|ENST00000230882,p.P216L|uc011cpq.2,p.P29L|NM_001242406,p.P216L|NM_001242462,p.P216L|NM_000163,p.P216L|NM_001242403,p.P216L|NM_001242404,p.P216L|uc021xyb.1,p.P216L|uc021xxv.1,p.P223L	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xyd.1	nonsynonymous SNV	exon5	c.C581T	p.P194L	WKMMDPILTTSVPVYSLKVDKEYEV	WKMMDPILTTSVLVYSLKVDKEYEV	8.0	7.0	-	-	2369_5:42711337-42711337 C>T_WKMMDPILTTSVLVYSLKVDKEYEV
15:50867926-50867926 G>A	1.0	2369	MELANOMA	-	-	-	-	TRPM7	ENST00000313478,p.P1577L|NM_017672,p.P1577L|NM_001301212,p.P1576L|ENST00000560955,p.P1576L|uc001zyt.4,p.P1577L|uc001zyr.3,p.P14L	retained_intron, protein_coding, processed_transcript	uc001zyt.4	nonsynonymous SNV	exon33	c.C4730T	p.P1577L	RLSQSIPFTPVPPRGEPVTVYRLEE	RLSQSIPFTPVPLRGEPVTVYRLEE	9.0	5.0	-	-	2369_15:50867926-50867926 G>A_RLSQSIPFTPVPLRGEPVTVYRLEE
1:169439258-169439258 G>A	1.0	2369	MELANOMA	-	-	-	-	SLC19A2	NM_006996,p.P325L|ENST00000367804,p.P124L|ENST00000236137,p.P325L|uc001ggf.4,p.P124L|uc001gge.4,p.P325L|ENST00000367802,p.P287L	protein_coding	uc001ggf.4	nonsynonymous SNV	exon2	c.C371T	p.P124L	VNYTQGLWEKVMPSRYAAIYNGGVE	VNYTQGLWEKVMLSRYAAIYNGGVE	9.0	7.0	-	-	2369_1:169439258-169439258 G>A_VNYTQGLWEKVMLSRYAAIYNGGVE
17:37627971-37627971 C>T	1.0	2369	MELANOMA	-	-	-	1	CDK12	uc010cvv.3,p.P629L|ENST00000430627,p.P629L|ENST00000584632,p.P628L|ENST00000447079,p.P629L|uc010wef.1,p.P628L|NM_016507,p.P629L|uc002hrw.4,p.P629L|NM_015083,p.P629L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wef.1	nonsynonymous SNV	exon2	c.C1883T	p.P628L	AAIPHLKTSTLPPLPLPPLLPGDDD	AAIPHLKTSTLPLLPLPPLLPGDDD	8.0	5.0	-	-	2369_17:37627971-37627971 C>T_AAIPHLKTSTLPLLPLPPLLPGDDD
16:697430-697430 C>T	1.0	2369	MELANOMA	-	-	-	-	FAM195A	ENST00000307650,p.L66F|uc002cic.1,p.L66F|NM_138418,p.L66F	retained_intron, protein_coding, nonsense_mediated_decay	uc002cic.1	nonsynonymous SNV	exon3	c.C196T	p.L66F	PGPWPLSSPGPRLVFNRVNGRRAPS	PGPWPLSSPGPRFVFNRVNGRRAPS	8.0	6.0	-	-	2369_16:697430-697430 C>T_PGPWPLSSPGPRFVFNRVNGRRAPS
11:122930474-122930474 G>A	1.0	2369	MELANOMA	-	-	-	-	HSPA8	uc010rzu.2,p.S199F|NM_006597,p.S276F|ENST00000534319,p.S40F|ENST00000532636,p.S276F|ENST00000453788,p.S276F|uc001pyo.3,p.S276F|ENST00000533540,p.S130F|ENST00000227378,p.S276F|uc009zbc.3,p.S40F|uc009zbd.2,p.S276F|ENST00000528292,p.S216F|NM_153201,p.S276F|ENST00000534624,p.S276F|ENST00000526110,p.S257F|uc001pyp.3,p.S276F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rzu.2	nonsynonymous SNV	exon4	c.C596T	p.S199F	RTACERAKRTLSSSTQASIEIDSLY	RTACERAKRTLSFSTQASIEIDSLY	10.0	10.0	unscreened	-	2369_11:122930474-122930474 G>A_RTACERAKRTLSFSTQASIEIDSLY
16:722106-722106 C>T	1.0	2369	MELANOMA	-	-	-	-	RHOT2	uc002ciq.3,p.R267W|ENST00000315082,p.R374W|NM_138769,p.R374W|uc002cip.3,p.R374W|uc010bqy.3,p.R153W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bqy.3	nonsynonymous SNV	exon4	c.C457T	p.R153W	LCQWTLVTYLDVRSCLGHLGYLGYP	LCQWTLVTYLDVWSCLGHLGYLGYP	10.0	8.0	-	-	2369_16:722106-722106 C>T_LCQWTLVTYLDVWSCLGHLGYLGYP
17:73236026-73236026 G>A	1.0	2369	MELANOMA	0.0009	-	-	-	GGA3	ENST00000582717,p.A404V|NM_138619,p.A476V|ENST00000351904,p.A443V|ENST00000582486,p.A404V|NM_014001,p.A443V|NM_001172704,p.A354V|uc002jnj.2,p.A443V|uc010wrw.2,p.A354V|NM_001172703,p.A404V|uc002jnk.2,p.A404V|ENST00000245541,p.A476V|NM_001291642,p.A354V|uc010wry.2,p.A404V|NM_001291641,p.A404V|ENST00000538886,p.A354V|ENST00000578348,p.A354V|uc010wrx.2,p.A354V|uc002jni.2,p.A476V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wry.2	nonsynonymous SNV	exon13	c.C1211T	p.A404V	PFPAPVVPASVPAPSAGSSLFSTGV	PFPAPVVPASVPVPSAGSSLFSTGV	8.0	6.0	-	-	2369_17:73236026-73236026 G>A_PFPAPVVPASVPVPSAGSSLFSTGV
19:39433315-39433315 G>A	1.0	2369	MELANOMA	-	-	-	-	FBXO17	uc002okf.1,p.S266F|NM_148169,p.S266F|ENST00000292852,p.S257F|NM_024907,p.S257F|ENST00000595329,p.S257F|uc002okg.1,p.S257F	retained_intron, protein_coding, nonsense_mediated_decay	uc002okg.1	nonsynonymous SNV	exon6	c.C770T	p.S257F	YVSFEQYGRDVSSWVGHYGALVTHS	YVSFEQYGRDVSFWVGHYGALVTHS	9.0	3.0	unscreened	-	2369_19:39433315-39433315 G>A_YVSFEQYGRDVSFWVGHYGALVTHS
22:22869267-22869267 C>T	1.0	2369	MELANOMA	-	-	-	-	ZNF280A	uc002zwe.3,p.D230N|ENST00000302097,p.D230N|NM_080740,p.D230N|uc021wmo.1,p.D230N	protein_coding	uc021wmo.1	nonsynonymous SNV	exon1	c.G688A	p.D230N	NHVQNGVTFPWPDANGKAHFNLTDP	NHVQNGVTFPWPNANGKAHFNLTDP	7.0	8.0	-	-	2369_22:22869267-22869267 C>T_NHVQNGVTFPWPNANGKAHFNLTDP
11:57427433-57427433 C>T	1.0	2369	MELANOMA	-	-	-	2	CLP1	uc009yml.3,p.T162I|uc001nkw.3,p.T162I|ENST00000533682,p.T162I|ENST00000525602,p.T162I|ENST00000529430,p.T173I|NM_006831,p.T162I	protein_coding	uc009yml.3	nonsynonymous SNV	exon2	c.C485T	p.T162I	LDVGQGSVSIPGTMGALYIERPADV	LDVGQGSVSIPGIMGALYIERPADV	8.0	9.0	-	-	2369_11:57427433-57427433 C>T_LDVGQGSVSIPGIMGALYIERPADV
11:124748584-124748584 C>T	1.0	2369	MELANOMA	-	-	ID=COSM541182;OCCURENCE=1(lung)	-	ROBO3	uc010sar.2,p.P191L|uc001qbf.1,p.P26L|uc001qbe.3,p.P67L|NM_022370,p.P1142L|ENST00000538940,p.P1120L|uc001qbc.3,p.P1142L|ENST00000397801,p.P1142L|uc001qbd.2,p.P67L	retained_intron, protein_coding, processed_transcript	uc010sar.2	nonsynonymous SNV	exon6	c.C572T	p.P191L	GGCLVTPSRRETPSPTPSYGQQSTA	GGCLVTPSRRETLSPTPSYGQQSTA	7.0	3.0	-	-	2369_11:124748584-124748584 C>T_GGCLVTPSRRETLSPTPSYGQQSTA
16:58619389-58619389 G>A	1.0	2369	MELANOMA	-	-	-	-	CNOT1	NM_016284,p.P220L|NM_001265612,p.P220L|uc002enx.4,p.P220L|uc002enu.5,p.P220L|NM_206999,p.P220L|ENST00000317147,p.P220L|uc002env.4,p.P220L|ENST00000567188,p.P220L|ENST00000569240,p.P220L|ENST00000441024,p.P220L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002enx.4	nonsynonymous SNV	exon8	c.C659T	p.P220L	KTLRRDFPQERCPVVLAPLLYPEKR	KTLRRDFPQERCLVVLAPLLYPEKR	10.0	9.0	-	-	2369_16:58619389-58619389 G>A_KTLRRDFPQERCLVVLAPLLYPEKR
9:129937041-129937041 C>T	1.0	2369	MELANOMA	-	-	-	-	RALGPS1	uc022bno.1,p.S297F|NM_001190730,p.S297F|ENST00000373436,p.S297F	protein_coding, processed_transcript	uc022bno.1	nonsynonymous SNV	exon11	c.C890T	p.S297F	RIEPGSSSPRLVSSKEDLAAM	RIEPGSSSPRLVFSKEDLAAM	6.0	6.0	unscreened	-	2369_9:129937041-129937041 C>T_RIEPGSSSPRLVFSKEDLAAM
6:31896559-31896559 C>T	1.0	2369	MELANOMA	-	-	-	-	C2	ENST00000477310,p.R103W|uc003nyf.3,p.R103W|uc003nye.4,p.R103W|NM_000063,p.R103W|NM_001282458,p.R74W|ENST00000418949,p.R103W|ENST00000299367,p.R103W|NM_001282459,p.R103W|uc011doq.2,p.R74W|ENST00000413154,p.R103W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011doq.2	nonsynonymous SNV	exon3	c.C220T	p.R74W	APVSFENGIYTPRLGSYPVGGNVSF	APVSFENGIYTPWLGSYPVGGNVSF	8.0	9.0	-	-	2369_6:31896559-31896559 C>T_APVSFENGIYTPWLGSYPVGGNVSF
10:101552097-101552097 G>A	1.0	2369	MELANOMA	-	-	-	-	ABCC2	NM_000392,p.S105N|ENST00000370449,p.S105N|ENST00000370434,p.S105N|uc001kqf.2,p.S105N	protein_coding, processed_transcript	uc001kqf.2	nonsynonymous SNV	exon3	c.G314A	p.S105N	QATVPAVRYTNPSLYLGTWLLVLLI	QATVPAVRYTNPNLYLGTWLLVLLI	9.0	10.0	-	-	2369_10:101552097-101552097 G>A_QATVPAVRYTNPNLYLGTWLLVLLI
16:88690383-88690383 C>T	1.0	2369	MELANOMA	-	-	ID=COSM472209;OCCURENCE=2(NS),1(endometrium),1(kidney)	-	ZC3H18	uc010voz.2,p.S628L|ENST00000452588,p.S628L|NM_144604,p.S604L|uc002fky.3,p.S604L|ENST00000301011,p.S604L|NM_001294340,p.S628L	retained_intron, protein_coding	uc010voz.2	nonsynonymous SNV	exon12	c.C1883T	p.S628L	FSGSRSRSRSFSSSPSPSPTPSPHR	FSGSRSRSRSFSLSPSPSPTPSPHR	7.0	2.0	unscreened	-	2369_16:88690383-88690383 C>T_FSGSRSRSRSFSLSPSPSPTPSPHR
9:129937041-129937041 C>T	1.0	2369	MELANOMA	-	-	-	-	RALGPS1	ENST00000394022,p.S297F|uc011mab.2,p.S297F	protein_coding, processed_transcript	uc011mab.2	nonsynonymous SNV	exon11	c.C890T	p.S297F	RIEPGSSSPRLVSSKEDLAVSHLSS	RIEPGSSSPRLVFSKEDLAVSHLSS	6.0	6.0	unscreened	-	2369_9:129937041-129937041 C>T_RIEPGSSSPRLVFSKEDLAVSHLSS
11:18596909-18596909 G>A	1.0	2369	MELANOMA	-	-	-	-	UEVLD	uc031pzh.1,p.P60S|NM_001261386,p.P60S|ENST00000541984,p.P60S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pzh.1	nonsynonymous SNV	exon3	c.C178T	p.P60S	SQKDLLNFTGTIPVMYQGVSDTNSK	SQKDLLNFTGTISVMYQGVSDTNSK	8.0	5.0	unscreened	-	2369_11:18596909-18596909 G>A_SQKDLLNFTGTISVMYQGVSDTNSK
11:18596909-18596909 G>A	1.0	2369	MELANOMA	-	-	-	-	UEVLD	ENST00000396197,p.P60S|ENST00000543987,p.P60S|uc010rdh.3,p.P60S|uc031pzg.1,p.P22S|ENST00000300038,p.P60S|uc001mou.4,p.P60S|NM_001040697,p.P60S|uc001mot.4,p.P60S|NM_018314,p.P60S|NM_001261385,p.P22S|ENST00000535484,p.P22S|NM_001297771,p.P60S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pzg.1	nonsynonymous SNV	exon3	c.C64T	p.P22S	SQKDLLNFTGTIPVMYQGNTYNIPI	SQKDLLNFTGTISVMYQGNTYNIPI	8.0	5.0	-	-	2369_11:18596909-18596909 G>A_SQKDLLNFTGTISVMYQGNTYNIPI
3:186502474-186502474 C>T	1.0	2369	MELANOMA	-	-	-	1	EIF4A2	ENST00000445596,p.P66L|uc003fqs.3,p.P66L|ENST00000425053,p.P66L|ENST00000323963,p.P66L|NM_001967,p.P66L|uc003fqu.3,p.P67L|ENST00000440191,p.P67L|ENST00000498746,p.P49L	retained_intron, protein_coding, nonsense_mediated_decay	uc003fqu.3	nonsynonymous SNV	exon3	c.C200T	p.P67L	EKPSAIQQRAIIPCIKGYDVIAQAQ	EKPSAIQQRAIILCIKGYDVIAQAQ	10.0	7.0	-	-	2369_3:186502474-186502474 C>T_EKPSAIQQRAIILCIKGYDVIAQAQ
3:186502474-186502474 C>T	1.0	2369	MELANOMA	-	-	-	1	EIF4A2	ENST00000429589,p.P66L|ENST00000443963,p.P67L|ENST00000426808,p.P66L	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000443963	nonsynonymous SNV	exon3	c.C200T	p.P67L	EKPSAIQQRAIIPCIKDPKGNSGTW	EKPSAIQQRAIILCIKDPKGNSGTW	10.0	7.0	unscreened	-	2369_3:186502474-186502474 C>T_EKPSAIQQRAIILCIKDPKGNSGTW
9:129937041-129937041 C>T	1.0	2369	MELANOMA	-	-	-	-	RALGPS1	NM_001190728,p.S297F|NM_014636,p.S297F|uc004bqo.2,p.S297F|NM_001190729,p.S297F|uc011mac.2,p.S297F|uc004bqq.4,p.S297F|ENST00000259351,p.S297F|ENST00000424082,p.S297F|ENST00000373434,p.S297F	protein_coding, processed_transcript	uc011mac.2	nonsynonymous SNV	exon11	c.C890T	p.S297F	RIEPGSSSPRLVSSKEDLAGPSAGS	RIEPGSSSPRLVFSKEDLAGPSAGS	6.0	6.0	-	-	2369_9:129937041-129937041 C>T_RIEPGSSSPRLVFSKEDLAGPSAGS
3:142268377-142268377 G>A	1.0	2369	MELANOMA	-	-	-	1	ATR	ENST00000383101,p.H975Y|NM_001184,p.H1039Y|uc003eux.4,p.H1039Y|ENST00000350721,p.H1039Y	retained_intron, protein_coding, nonsense_mediated_decay	uc003eux.4	nonsynonymous SNV	exon15	c.C3115T	p.H1039Y	EILINNFKYIFSHLVCSCSKDELER	EILINNFKYIFSYLVCSCSKDELER	7.0	4.0	-	-	2369_3:142268377-142268377 G>A_EILINNFKYIFSYLVCSCSKDELER
X:1428297-1428297 C>T	1.0	2369	MELANOMA	-	-	-	-	CSF2RA	ENST00000355432,p.H317Y|uc004cpp.2,p.H317Y|NM_172246,p.H317Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc004cpp.2	nonsynonymous SNV	exon11	c.C949T	p.H317Y	NWSSWSEAIEFDHLGGIHPRGRERL	NWSSWSEAIEFDYLGGIHPRGRERL	10.0	10.0	unscreened	-	2369_X:1428297-1428297 C>T_NWSSWSEAIEFDYLGGIHPRGRERL
4:154478191-154478191 C>T	1.0	2369	MELANOMA	-	-	-	-	KIAA0922	uc003inm.4,p.S169F|uc010ipq.3,p.S21F|ENST00000409959,p.S169F|ENST00000440693,p.S169F|ENST00000409663,p.S169F|NM_001131007,p.S169F|uc010ipp.3,p.S169F|ENST00000240487,p.S30F|NM_015196,p.S169F	retained_intron, protein_coding, nonsense_mediated_decay	uc010ipq.3	nonsynonymous SNV	exon2	c.C62T	p.S21F	IFLPTEEGSIESSLFINTSSYGVLS	IFLPTEEGSIESFLFINTSSYGVLS	6.0	9.0	unscreened	-	2369_4:154478191-154478191 C>T_IFLPTEEGSIESFLFINTSSYGVLS
12:56076019-56076019 C>T	1.0	2369	MELANOMA	-	-	-	-	METTL7B	ENST00000394252,p.R161W|uc010spr.2,p.R161W|NM_152637,p.R161W	protein_coding	uc010spr.2	nonsynonymous SNV	exon1	c.C481T	p.R161W	SVQSPRKVLQEVRRVLRPGGVLFFW	SVQSPRKVLQEVWRVLRPGGVLFFW	6.0	9.0	unscreened	-	2369_12:56076019-56076019 C>T_SVQSPRKVLQEVWRVLRPGGVLFFW
21:38525460-38525460 C>T	1.0	2369	MELANOMA	-	-	-	-	TTC3	uc011aed.1,p.R565C|uc010gnf.3,p.R640C|uc002yvz.3,p.R875C|uc011aee.1,p.R565C|NM_001001894,p.R875C|uc002ywb.3,p.R875C|ENST00000354749,p.R875C|ENST00000540756,p.R565C|ENST00000438055,p.R857C|uc002ywa.3,p.R875C|ENST00000399017,p.R875C|ENST00000355666,p.R875C|uc002ywc.3,p.R565C|NM_003316,p.R875C|ENST00000418766,p.R875C	retained_intron, protein_coding, processed_transcript	uc011aee.1	nonsynonymous SNV	exon19	c.C1693T	p.R565C	RNFLNEAVDYVIRHLIQENNRVKTR	RNFLNEAVDYVICHLIQENNRVKTR	10.0	5.0	-	-	2369_21:38525460-38525460 C>T_RNFLNEAVDYVICHLIQENNRVKTR
6:71004099-71004099 G>A	1.0	2369	MELANOMA	-	-	-	-	COL9A1	ENST00000370496,p.S156L|uc003pfg.4,p.S156L|NM_001851,p.S156L|ENST00000357250,p.S156L	retained_intron, protein_coding, processed_transcript	uc003pfg.4	nonsynonymous SNV	exon5	c.C467T	p.S156L	IKINGQTQSVVFSYKGLDGSLQTAA	IKINGQTQSVVFLYKGLDGSLQTAA	7.0	9.0	-	-	2369_6:71004099-71004099 G>A_IKINGQTQSVVFLYKGLDGSLQTAA
20:30822298-30822298 C>T	1.0	2369	MELANOMA	-	-	-	-	POFUT1	ENST00000539210,p.P123L|uc010ztu.2,p.P123L|NM_015352,p.P334L|ENST00000375749,p.P334L|uc002wxp.3,p.P334L|uc010ztt.2,p.P226L	protein_coding, processed_transcript	uc010ztu.2	nonsynonymous SNV	exon4	c.C368T	p.P123L	LFKGKVKVVSLKPEVAQVDLYILGQ	LFKGKVKVVSLKLEVAQVDLYILGQ	9.0	7.0	-	-	2369_20:30822298-30822298 C>T_LFKGKVKVVSLKLEVAQVDLYILGQ
5:94224595-94224595 G>A	1.0	2369	MELANOMA	-	-	-	-	MCTP1	NM_001002796,p.A420V|ENST00000505078,p.A157V|ENST00000312216,p.A420V|ENST00000429576,p.A374V|ENST00000515393,p.A641V|uc003kku.2,p.A157V|NM_001297777,p.A374V|ENST00000505208,p.A420V|ENST00000508509,p.A361V|uc003kkw.2,p.A374V|uc003kkv.2,p.A420V|uc003kkz.2,p.A302V|uc003kkx.2,p.A641V|NM_024717,p.A641V|ENST00000512425,p.A302V|ENST00000506568,p.A242V	retained_intron, protein_coding, processed_transcript	uc003kkz.2	nonsynonymous SNV	exon11	c.C905T	p.A302V	QVKVIRAEGLMAADVTGKSDPFCVV	QVKVIRAEGLMAVDVTGKSDPFCVV	9.0	10.0	-	-	2369_5:94224595-94224595 G>A_QVKVIRAEGLMAVDVTGKSDPFCVV
11:18596909-18596909 G>A	1.0	2369	MELANOMA	-	-	-	-	UEVLD	ENST00000396196,p.P60S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000396196	nonsynonymous SNV	exon3	c.C178T	p.P60S	SQKDLLNFTGTIPVMYQA	SQKDLLNFTGTISVMYQA	8.0	5.0	unscreened	-	2369_11:18596909-18596909 G>A_SQKDLLNFTGTISVMYQA
2:43458127-43458127 G>A	1.0	2369	MELANOMA	-	-	ID=COSM1020986;OCCURENCE=3(endometrium)	-	THADA	uc002rsw.4,p.S1941L|uc002rsx.4,p.S1941L|ENST00000405006,p.S1941L|NM_001083953,p.S1941L|ENST00000415080,p.S1622L|NM_022065,p.S1941L|ENST00000405975,p.S1941L|uc010far.3,p.S1136L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010far.3	nonsynonymous SNV	exon23	c.C3407T	p.S1136L	TLVLSVWDSYAESRQLTLPRTEAAC	TLVLSVWDSYAELRQLTLPRTEAAC	7.0	5.0	-	-	2369_2:43458127-43458127 G>A_TLVLSVWDSYAELRQLTLPRTEAAC
7:38765863-38765863 A>T	1.0	2369	MELANOMA	-	-	-	-	VPS41	uc010kxn.3,p.L761M|NM_014396,p.L850M|NM_080631,p.L825M|ENST00000310301,p.L850M|uc003tgy.3,p.L850M|uc003tgz.3,p.L825M|ENST00000395969,p.L825M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kxn.3	nonsynonymous SNV	exon27	c.T2281A	p.L761M	CSAKNRGPGSAILEMKK	CSAKNRGPGSAIMEMKK	10.0	7.0	-	-	2369_7:38765863-38765863 A>T_CSAKNRGPGSAIMEMKK
11:46914534-46914534 G>A	1.0	2369	MELANOMA	-	-	-	-	LRP4	NM_002334,p.P563S|uc001ndn.4,p.P563S|ENST00000378623,p.P563S	retained_intron, protein_coding	uc001ndn.4	nonsynonymous SNV	exon13	c.C1687T	p.P563S	QNLEKPRAIALHPMEGTIYWTDWGN	QNLEKPRAIALHSMEGTIYWTDWGN	7.0	3.0	-	-	2369_11:46914534-46914534 G>A_QNLEKPRAIALHSMEGTIYWTDWGN
20:61450643-61450643 G>A	1.0	2369	MELANOMA	-	-	-	-	COL9A3	ENST00000343916,p.D85N|NM_001853,p.D85N|uc002ydm.3,p.D85N|ENST00000452372,p.D48N	retained_intron, protein_coding, processed_transcript	uc002ydm.3	nonsynonymous SNV	exon4	c.G253A	p.D85N	PGEAGLPGLPGVDGLTGRDGPPGPK	PGEAGLPGLPGVNGLTGRDGPPGPK	8.0	9.0	unscreened	-	2369_20:61450643-61450643 G>A_PGEAGLPGLPGVNGLTGRDGPPGPK
4:52928431-52928431 C>T	1.0	2369	MELANOMA	-	-	ID=COSM1694372,COSM1694373;OCCURENCE=1(skin)	-	SPATA18	ENST00000295213,p.R119W|ENST00000505320,p.R119W|NM_001297608,p.R119W|uc003gzk.1,p.R119W|NM_145263,p.R119W|uc003gzl.3,p.R119W|uc011bzq.2,p.R119W|ENST00000419395,p.R119W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bzq.2	nonsynonymous SNV	exon4	c.C355T	p.R119W	DRERHKDPSPRDRDMQQLDSNLNST	DRERHKDPSPRDWDMQQLDSNLNST	7.0	7.0	-	-	2369_4:52928431-52928431 C>T_DRERHKDPSPRDWDMQQLDSNLNST
3:18390945-18390945 G>A	1.0	2369	MELANOMA	-	-	-	-	SATB1	uc003cbj.3,p.P670L|uc003cbi.3,p.P702L|ENST00000454909,p.P670L|uc003cbh.3,p.P670L|ENST00000417717,p.P702L|ENST00000338745,p.P670L|NM_002971,p.P670L|NM_001131010,p.P670L|NM_001195470,p.P702L	retained_intron, protein_coding	uc003cbj.3	nonsynonymous SNV	exon11	c.C2009T	p.P670L	ILQSFIQDVGLYPDEEAIQTLSAQL	ILQSFIQDVGLYLDEEAIQTLSAQL	5.0	6.0	unscreened	-	2369_3:18390945-18390945 G>A_ILQSFIQDVGLYLDEEAIQTLSAQL
5:39119092-39119092 G>A	1.0	2369	MELANOMA	-	-	-	-	FYB	ENST00000540520,p.S772F|uc003jlt.3,p.S762F|uc011cpl.2,p.S772F|ENST00000351578,p.S716F|uc003jls.3,p.S716F|NM_001465,p.S762F|ENST00000512982,p.S762F|uc003jlu.3,p.S716F|NM_001243093,p.S772F|ENST00000505428,p.S762F|NM_199335,p.S716F|ENST00000515010,p.S716F	protein_coding, processed_transcript	uc011cpl.2	nonsynonymous SNV	exon16	c.C2315T	p.S772F	EIRVLYSTKVTTSITSKKWGTRDLQ	EIRVLYSTKVTTFITSKKWGTRDLQ	9.0	8.0	-	-	2369_5:39119092-39119092 G>A_EIRVLYSTKVTTFITSKKWGTRDLQ
4:68490723-68490723 C>T	1.0	2369	MELANOMA	-	-	-	-	UBA6	ENST00000514261,p.V51I	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000514261	nonsynonymous SNV	exon1	c.G151A	p.V51I	KIIPAIATTTATVSGLKWNIIYNLG	KIIPAIATTTATISGLKWNIIYNLG	7.0	9.0	unscreened	-	2369_4:68490723-68490723 C>T_KIIPAIATTTATISGLKWNIIYNLG
3:97595934-97595934 T>A	1.0	2369	MELANOMA	-	-	-	-	CRYBG3	ENST00000182096,p.S18T|uc021xbn.2,p.S1966T|NM_153605,p.S1966T	protein_coding, processed_transcript	uc021xbn.2	nonsynonymous SNV	exon4	c.T5896A	p.S1966T	PGDTTVRLDKRMSLTAIYDKRRETD	PGDTTVRLDKRMTLTAIYDKRRETD	7.0	6.0	-	-	2369_3:97595934-97595934 T>A_PGDTTVRLDKRMTLTAIYDKRRETD
3:52172297-52172297 C>T	1.0	2369	MELANOMA	-	-	-	-	POC1A	uc003dcu.3,p.G234E|ENST00000394970,p.G234E|NM_001161580,p.G234E|ENST00000474012,p.G196E|ENST00000296484,p.G234E|NM_015426,p.G234E|uc003dcw.3,p.G234E|uc003dcv.3,p.G196E|NM_001161581,p.G196E	protein_coding	uc003dcw.3	nonsynonymous SNV	exon7	c.G701A	p.G234E	LQHYQLHSAAVNGLSFHPSGNYLIT	LQHYQLHSAAVNELSFHPSGNYLIT	5.0	8.0	-	-	2369_3:52172297-52172297 C>T_LQHYQLHSAAVNELSFHPSGNYLIT
17:8172293-8172293 C>T	1.0	2369	MELANOMA	-	-	-	-	PFAS	NM_012393,p.P1243L|ENST00000545834,p.P819L|ENST00000314666,p.P1243L|uc002gkr.3,p.P1243L|uc010vuv.2,p.P819L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vuv.2	nonsynonymous SNV	exon26	c.C2456T	p.P819L	SAHGEGYVAFSSPELQAQIEARGLA	SAHGEGYVAFSSLELQAQIEARGLA	8.0	9.0	-	-	2369_17:8172293-8172293 C>T_SAHGEGYVAFSSLELQAQIEARGLA
11:129735869-129735869 G>A	1.0	2369	MELANOMA	-	-	-	-	NFRKB	uc001qfi.3,p.P1181S|ENST00000524794,p.P1206S|ENST00000524746,p.P1181S|ENST00000446488,p.P1181S|ENST00000304521,p.P1181S|uc001qfg.3,p.P1206S|uc001qfh.3,p.P1204S|uc009zcr.3,p.P467S|NM_006165,p.P1206S|NM_001143835,p.P1181S	retained_intron, protein_coding, nonsense_mediated_decay	uc009zcr.3	nonsynonymous SNV	exon7	c.C1399T	p.P467S	TTVVSTSQAGKLPTRITVPLSVISQ	TTVVSTSQAGKLSTRITVPLSVISQ	7.0	4.0	-	-	2369_11:129735869-129735869 G>A_TTVVSTSQAGKLSTRITVPLSVISQ
2:113145814-113145814 C>T	1.0	2369	MELANOMA	-	rs1061266	-	-	RGPD5,RGPD8	uc010fkk.2,p.G1430R|uc002tht.1,p.G821R|NM_001164463,p.G1570R|ENST00000409750,p.G1430R|ENST00000302558,p.G1570R	retained_intron, protein_coding, nonsense_mediated_decay	uc010fkk.2	nonsynonymous SNV	exon19	c.G4288A	p.G1430R	AFGNSSATGSLFGFSFNAPLKSNNS	AFGNSSATGSLFRFSFNAPLKSNNS	6.0	3.0	unscreened	-	2369_2:113145814-113145814 C>T_AFGNSSATGSLFRFSFNAPLKSNNS
2:113145814-113145814 C>T	1.0	2369	MELANOMA	-	rs1061266	-	-	RGPD5,RGPD8	NM_005054,p.G1570R|uc002ths.2,p.G1570R	retained_intron, protein_coding, nonsense_mediated_decay	uc002ths.2	nonsynonymous SNV	exon20	c.G4708A	p.G1570R	VFGNSSATGSLFGFSFNAPLKSNNS	VFGNSSATGSLFRFSFNAPLKSNNS	6.0	3.0	unscreened	-	2369_2:113145814-113145814 C>T_VFGNSSATGSLFRFSFNAPLKSNNS
6:16307063-16307063 G>A	1.0	2369	MELANOMA	-	-	-	-	ATXN1	NM_001128164,p.P649S|uc003nbt.3,p.P649S|ENST00000436367,p.P649S|uc010jpi.3,p.P649S|NM_000332,p.P649S|ENST00000244769,p.P649S	protein_coding, processed_transcript	uc010jpi.3	nonsynonymous SNV	exon8	c.C1945T	p.P649S	RAQVSVEVLVEYPFFVFGQGWSSCC	RAQVSVEVLVEYSFFVFGQGWSSCC	7.0	3.0	-	-	2369_6:16307063-16307063 G>A_RAQVSVEVLVEYSFFVFGQGWSSCC
X:151869491-151869491 C>T	1.0	2369	MELANOMA	-	-	-	-	MAGEA6	ENST00000329342,p.P61S|uc022chf.1,p.P61S|NM_005363,p.P61S|uc004ffq.1,p.P61S|NM_175868,p.P61S|ENST00000412733,p.P61S|ENST00000457643,p.P61S|uc004ffr.1,p.P61S	protein_coding	uc022chf.1	nonsynonymous SNV	exon1	c.C181T	p.P61S	TLGEVPAAESPDPPQSPQGASSLPT	TLGEVPAAESPDSPQSPQGASSLPT	10.0	10.0	unscreened	-	2369_X:151869491-151869491 C>T_TLGEVPAAESPDSPQSPQGASSLPT
17:17801968-17801968 G>A	1.0	2369	MELANOMA	-	-	ID=COSM1720744,COSM1720743;OCCURENCE=2(NS)	-	TOM1L2	uc010vwy.2,p.A53V|NM_001288789,p.A53V|ENST00000379504,p.A53V|uc010vxb.2,p.A53V|ENST00000395739,p.A53V|ENST00000542206,p.A53V|ENST00000579586,p.A20V|ENST00000535933,p.A53V|uc010vxa.2,p.A53V|NM_001082968,p.A53V|uc002grz.4,p.A53V|ENST00000540946,p.A53V|NM_001288788,p.A53V|uc010cpr.3,p.A53V|ENST00000581396,p.A53V|NM_001288787,p.A53V|NM_001288786,p.A53V|uc010vwz.2,p.A53V|uc002gry.4,p.A53V|ENST00000318094,p.A53V|NM_001033551,p.A53V	retained_intron, protein_coding, processed_transcript	uc010vxb.2	nonsynonymous SNV	exon3	c.C158T	p.A53V	NETEEGPKDAIRALKKRLNGNRNYR	NETEEGPKDAIRVLKKRLNGNRNYR	7.0	9.0	-	-	2369_17:17801968-17801968 G>A_NETEEGPKDAIRVLKKRLNGNRNYR
2:71220866-71220866 T>C	1.0	2369	MELANOMA	-	-	-	-	TEX261	uc002shn.3,p.Y37C|NM_144582,p.Y37C|ENST00000433258,p.Y37C|ENST00000606025,p.Y37C|ENST00000272438,p.Y37C	 processed_transcript, nonsense_mediated_decay,retained_intron, protein_coding	uc002shn.3	nonsynonymous SNV	exon2	c.A110G	p.Y37C	AGLYYLAELIEEYTVATSRIIKYMI	AGLYYLAELIEECTVATSRIIKYMI	8.0	7.0	-	-	2369_2:71220866-71220866 T>C_AGLYYLAELIEECTVATSRIIKYMI
X:140995706-140995706 C>T	1.0	2369	MELANOMA	-	-	-	-	MAGEC1	ENST00000285879,p.S839L|uc022cfi.1,p.S498L|NM_005462,p.S839L|uc004fbt.3,p.S839L	protein_coding	uc022cfi.1	nonsynonymous SNV	exon1	c.C1493T	p.S498L	QSSPVSSFPSSTSSSLSKSSPESPL	QSSPVSSFPSSTLSSLSKSSPESPL	9.0	10.0	-	-	2369_X:140995706-140995706 C>T_QSSPVSSFPSSTLSSLSKSSPESPL
4:190873356-190873356 G>A	0.0	2369	MELANOMA	-	-	-	-	FRG1	uc003izs.3,p.G58E|ENST00000226798,p.G58E|NM_004477,p.G58E	protein_coding, processed_transcript, nonsense_mediated_decay	uc003izs.3	nonsynonymous SNV	exon3	c.G173A	p.G58E	IWWTVTNFGEISGTIAIEMDKGTYI	IWWTVTNFGEISETIAIEMDKGTYI	9.0	1.0	unscreened	-	2369_4:190873356-190873356 G>A_IWWTVTNFGEISETIAIEMDKGTYI
14:79117532-79117532 C>G	0.0	2369	MELANOMA	-	-	-	-	NRXN3	ENST00000554738,p.L360V|uc010asv.1,p.L123V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010asv.1	nonsynonymous SNV	exon3	c.C367G	p.L123V	NLRQVTISVDGILTTTGYTQEDYTM	NLRQVTISVDGIVTTTGYTQEDYTM	6.0	3.0	-	-	2369_14:79117532-79117532 C>G_NLRQVTISVDGIVTTTGYTQEDYTM
3:49744236-49744236 C>T	1.0	2369	MELANOMA	-	-	-	-	RNF123	NM_022064,p.L801F|ENST00000432042,p.L655F|ENST00000327697,p.L801F|uc003cxh.4,p.L801F|uc010hky.1,p.L463F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hky.1	nonsynonymous SNV	exon16	c.C1387T	p.L463F	KLRRCPKRRKDILAELTKSQKVFSE	KLRRCPKRRKDIFAELTKSQKVFSE	9.0	5.0	-	-	2369_3:49744236-49744236 C>T_KLRRCPKRRKDIFAELTKSQKVFSE
10:133761209-133761209 C>T	1.0	2369	MELANOMA	-	-	-	-	PPP2R2D	ENST00000422256,p.T104M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000422256	nonsynonymous SNV	exon7	c.C311T	p.T104M	QHRAGRWRPTRSTSTCAASSALSMR	QHRAGRWRPTRSMSTCAASSALSMR	8.0	10.0	unscreened	-	2369_10:133761209-133761209 C>T_QHRAGRWRPTRSMSTCAASSALSMR
10:53458226-53458226 G>A	1.0	2369	MELANOMA	-	-	-	-	CSTF2T	ENST00000331173,p.P362S|NM_015235,p.P362S|uc001jjp.3,p.P362S	protein_coding	uc001jjp.3	nonsynonymous SNV	exon1	c.C1084T	p.P362S	EPRGYLGPPHQGPPMHHASGHDTRG	EPRGYLGPPHQGSPMHHASGHDTRG	8.0	10.0	-	-	2369_10:53458226-53458226 G>A_EPRGYLGPPHQGSPMHHASGHDTRG
14:62016407-62016407 C>T	1.0	2369	MELANOMA	-	-	-	-	PRKCH	ENST00000332981,p.S637F|ENST00000555082,p.S476F|uc010tsa.2,p.S476F|NM_006255,p.S637F|uc010tsb.2,p.S205F|uc001xfn.3,p.S637F	protein_coding, processed_transcript	uc010tsb.2	nonsynonymous SNV	exon6	c.C614T	p.S205F	RQIEPPFRPRIKSREDVSNFDPDFI	RQIEPPFRPRIKFREDVSNFDPDFI	7.0	2.0	-	-	2369_14:62016407-62016407 C>T_RQIEPPFRPRIKFREDVSNFDPDFI
6:110935763-110935763 G>A	1.0	2369	MELANOMA	-	-	-	-	CDK19	uc031spj.1,p.P451L|NM_001300964,p.P435L|NM_001300960,p.P451L|NM_015076,p.P495L|uc003pui.1,p.P435L|uc011eax.1,p.P371L|uc003puh.1,p.P495L|ENST00000413605,p.P371L|NM_001300963,p.P435L|ENST00000368911,p.P495L|ENST00000323817,p.P435L	protein_coding, processed_transcript, nonsense_mediated_decay	uc031spj.1	nonsynonymous SNV	exon12	c.C1352T	p.P451L	YSSSSQQSSQYHPSHQAHRY	YSSSSQQSSQYHLSHQAHRY	7.0	6.0	-	-	2369_6:110935763-110935763 G>A_YSSSSQQSSQYHLSHQAHRY
1:145304530-145304530 C>T	1.0	2369	MELANOMA	-	-	-	-	NBPF10	ENST00000369338,p.S217F|uc001emq.1,p.S217F|ENST00000490598,p.S488F|NM_001039703,p.S488F|ENST00000342960,p.S488F|uc021oul.2,p.S488F|uc021oum.1,p.S27F|uc010oyi.3,p.S27F|ENST00000369339,p.S217F|uc031poc.1,p.S488F|uc021ouk.1,p.S488F	protein_coding, processed_transcript	uc031poc.1	nonsynonymous SNV	exon10	c.C1463T	p.S488F	EECAITYSNSHGSYDSNQPHRKTKI	EECAITYSNSHGFYDSNQPHRKTKI	7.0	2.0	unscreened	-	2369_1:145304530-145304530 C>T_EECAITYSNSHGFYDSNQPHRKTKI
19:17412122-17412122 C>T	1.0	2369	MELANOMA	-	-	-	-	ABHD8	uc002ngb.4,p.D102N|NM_024527,p.D102N|ENST00000247706,p.D102N|ENST00000593489,p.D118N	protein_coding	uc002ngb.4	nonsynonymous SNV	exon2	c.G304A	p.D102N	LLVENLGRAPRADLLHGQNGSGEPP	LLVENLGRAPRANLLHGQNGSGEPP	6.0	4.0	-	-	2369_19:17412122-17412122 C>T_LLVENLGRAPRANLLHGQNGSGEPP
20:8717693-8717693 C>T	1.0	2369	MELANOMA	-	-	ID=COSM109514;OCCURENCE=1(skin)	-	PLCB1	NM_182734,p.L688F|ENST00000378637,p.L688F|uc010zrb.1,p.L587F|uc002wnd.1,p.L265F|uc002wna.4,p.L688F|uc002wnb.4,p.L688F|ENST00000338037,p.L688F|uc002wnc.1,p.L587F|NM_015192,p.L688F|ENST00000378641,p.L688F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zrb.1	nonsynonymous SNV	exon20	c.C1759T	p.L587F	NTLSVKIISGQFLSDKKVGTYVEVD	NTLSVKIISGQFFSDKKVGTYVEVD	7.0	6.0	-	-	2369_20:8717693-8717693 C>T_NTLSVKIISGQFFSDKKVGTYVEVD
4:57182054-57182054 C>T	1.0	2369	MELANOMA	-	-	ID=COSM139521;OCCURENCE=1(skin)	-	KIAA1211	ENST00000264229,p.P796S|uc011bzz.1,p.P706S|uc003hbm.1,p.P682S|uc010iha.2,p.P789S|NM_020722,p.P796S|ENST00000504228,p.P796S|ENST00000541073,p.P789S|uc003hbk.2,p.P796S	protein_coding, processed_transcript	uc011bzz.1	nonsynonymous SNV	exon4	c.C2116T	p.P706S	DTTEGCKFAKDLPSFLVPSLPYPPQ	DTTEGCKFAKDLSSFLVPSLPYPPQ	7.0	2.0	-	-	2369_4:57182054-57182054 C>T_DTTEGCKFAKDLSSFLVPSLPYPPQ
3:51370636-51370636 C>T	1.0	2369	MELANOMA	-	-	-	-	DOCK3	uc011bds.2,p.S1188F|NM_004947,p.S1188F|ENST00000266037,p.S1188F	protein_coding	uc011bds.2	nonsynonymous SNV	exon35	c.C3563T	p.S1188F	KVEQETWRETGISFVTSVTRLMERL	KVEQETWRETGIFFVTSVTRLMERL	5.0	7.0	-	-	2369_3:51370636-51370636 C>T_KVEQETWRETGIFFVTSVTRLMERL
X:54186007-54186007 A>C	1.0	2369	MELANOMA	-	-	-	-	FAM120C	uc004dsz.4,p.F248V|NM_001300788,p.F248V|ENST00000328235,p.F248V|uc011moh.2,p.F248V|NM_017848,p.F248V|ENST00000375180,p.F248V	protein_coding, processed_transcript	uc011moh.2	nonsynonymous SNV	exon2	c.T742G	p.F248V	QSLEDHHLEVVAFFRENGFHGLLAH	QSLEDHHLEVVAVFRENGFHGLLAH	6.0	10.0	-	-	2369_X:54186007-54186007 A>C_QSLEDHHLEVVAVFRENGFHGLLAH
3:155652757-155652757 C>T	1.0	2369	MELANOMA	-	-	-	2	GMPS	ENST00000496455,p.P577S|ENST00000295920,p.P478S|NM_003875,p.P577S|uc011bom.2,p.P478S|uc003faq.3,p.P577S	protein_coding, processed_transcript	uc011bom.2	nonsynonymous SNV	exon12	c.C1432T	p.P478S	GPPVKEPPTDVTPTFLTTGVLSTLR	GPPVKEPPTDVTSTFLTTGVLSTLR	9.0	6.0	-	-	2369_3:155652757-155652757 C>T_GPPVKEPPTDVTSTFLTTGVLSTLR
11:48181567-48181567 C>T	1.0	2369	MELANOMA	-	-	-	-	PTPRJ	uc001ngp.4,p.P1175L|NM_002843,p.P1175L|ENST00000418331,p.P1175L	retained_intron, protein_coding, processed_transcript	uc001ngp.4	nonsynonymous SNV	exon22	c.C3524T	p.P1175L	DITVAMTSEIVLPEWTIRDFTVKNI	DITVAMTSEIVLLEWTIRDFTVKNI	8.0	9.0	-	-	2369_11:48181567-48181567 C>T_DITVAMTSEIVLLEWTIRDFTVKNI
2:207170142-207170142 C>T	1.0	2369	MELANOMA	-	-	-	-	ZDBF2	uc031rqy.1,p.S295F|uc002vbp.2,p.S297F|NM_001285549,p.S295F|NM_020923,p.S297F|ENST00000374423,p.S297F	protein_coding	uc031rqy.1	nonsynonymous SNV	exon7	c.C884T	p.S295F	GLKFHERMGTKGSLRVKSPSKLAVN	GLKFHERMGTKGFLRVKSPSKLAVN	6.0	5.0	-	-	2369_2:207170142-207170142 C>T_GLKFHERMGTKGFLRVKSPSKLAVN
9:125682014-125682014 G>A	1.0	2369	MELANOMA	-	-	-	-	ZBTB26	uc004bnj.3,p.S67F|uc022bnc.1,p.S67F|ENST00000373654,p.S67F|NM_020924,p.S67F|uc004bnk.3,p.S67F|ENST00000373656,p.S67F	protein_coding	uc022bnc.1	nonsynonymous SNV	exon1	c.C200T	p.S67F	SPFLRDQFLLNDSREVKISILQSSE	SPFLRDQFLLNDFREVKISILQSSE	6.0	6.0	-	-	2369_9:125682014-125682014 G>A_SPFLRDQFLLNDFREVKISILQSSE
6:45289579-45289579 G>A	0.0	2369	MELANOMA	-	-	-	-	SUPT3H	uc003oxo.4,p.P30S|ENST00000371461,p.P30S|ENST00000371460,p.P30S|NM_181356,p.P30S	protein_coding, processed_transcript, nonsense_mediated_decay	uc003oxo.4	nonsynonymous SNV	exon4	c.C88T	p.P30S	TDSIEIIGKSVFPYCYHNILPLLND	TDSIEIIGKSVFSYCYHNILPLLND	8.0	3.0	unscreened	-	2369_6:45289579-45289579 G>A_TDSIEIIGKSVFSYCYHNILPLLND
19:44933932-44933932 C>T	1.0	2369	MELANOMA	-	-	-	-	ZNF229	uc010ejl.1,p.A336T|uc002oze.1,p.A342T|ENST00000291187,p.A336T|NM_001278510,p.A336T|NM_014518,p.A342T|ENST00000588931,p.A342T	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ejl.1	nonsynonymous SNV	exon6	c.G1006A	p.A336T	VRQNTHIRNHPRAPVGDMPYRCDVC	VRQNTHIRNHPRTPVGDMPYRCDVC	5.0	7.0	-	-	2369_19:44933932-44933932 C>T_VRQNTHIRNHPRTPVGDMPYRCDVC
1:230371854-230371854 G>T	1.0	2369	MELANOMA	-	-	-	-	GALNT2	ENST00000366672,p.V157F|ENST00000543760,p.V119F|NM_004481,p.V157F|ENST00000541865,p.V67F|uc010pvy.1,p.V119F|uc010pwa.1,p.V157F|NM_001291866,p.V119F	protein_coding, processed_transcript	uc010pwa.1	nonsynonymous SNV	exon4	c.G469T	p.V157F	HNEARSALLRTVVSVLKKSPPHLIK	HNEARSALLRTVFSVLKKSPPHLIK	10.0	6.0	-	-	2369_1:230371854-230371854 G>T_HNEARSALLRTVFSVLKKSPPHLIK
5:102326102-102326102 G>A	1.0	2369	MELANOMA	-	-	-	-	PAM	NM_138821,p.G430E|ENST00000455264,p.G537E|uc003knv.3,p.G537E|uc003knt.3,p.G537E|NM_138766,p.G537E|NM_000919,p.G537E|NM_001177306,p.G537E|ENST00000304400,p.G537E|ENST00000438793,p.G537E|uc011cuz.2,p.G440E|ENST00000274392,p.G440E|uc003knx.1,p.G140E|ENST00000348126,p.G430E|uc003kns.3,p.G430E|ENST00000346918,p.G537E|uc003knw.3,p.G537E|NM_138822,p.G537E|uc003knu.3,p.G537E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cuz.2	nonsynonymous SNV	exon14	c.G1319A	p.G440E	LVIFHRGDHVWDGNSFDSKFVYQQI	LVIFHRGDHVWDENSFDSKFVYQQI	10.0	10.0	-	-	2369_5:102326102-102326102 G>A_LVIFHRGDHVWDENSFDSKFVYQQI
7:77407946-77407946 C>T	1.0	2369	MELANOMA	-	-	-	-	RSBN1L	uc010ldt.1,p.P668S|ENST00000334955,p.P668S|NM_198467,p.P668S|ENST00000445288,p.P398S	retained_intron, protein_coding	uc010ldt.1	nonsynonymous SNV	exon8	c.C2002T	p.P668S	RIQLYDNDIYFIPRNVVHQFKTVSA	RIQLYDNDIYFISRNVVHQFKTVSA	8.0	8.0	-	-	2369_7:77407946-77407946 C>T_RIQLYDNDIYFISRNVVHQFKTVSA
1:97243195-97243195 C>T	1.0	2369	MELANOMA	-	-	-	-	PTBP2	ENST00000370198,p.L163F|NM_001300986,p.L171F|uc001drr.3,p.L163F|ENST00000236228,p.L163F|ENST00000541987,p.L132F|NM_001300987,p.L174F|NM_001300988,p.L163F|NM_001300985,p.L163F|ENST00000426398,p.L163F|uc009wdw.2,p.L111F|uc010otz.1,p.L174F|uc001drn.2,p.L163F|uc001dro.2,p.L163F|ENST00000370197,p.L163F|NM_001300990,p.L111F|NM_001300989,p.L163F|uc001drq.3,p.L163F|NM_021190,p.L163F|ENST00000394184,p.L174F	protein_coding, processed_transcript	uc010otz.1	nonsynonymous SNV	exon7	c.C520T	p.L174F	QAVTAVQTANTPLSGTTVSESAVTP	QAVTAVQTANTPFSGTTVSESAVTP	6.0	10.0	-	-	2369_1:97243195-97243195 C>T_QAVTAVQTANTPFSGTTVSESAVTP
15:59752274-59752274 A>C	1.0	2369	MELANOMA	-	-	-	-	FAM81A	uc002agc.2,p.K55Q|ENST00000560087,p.K64Q|ENST00000558348,p.K55Q|ENST00000560074,p.K55Q|NM_152450,p.K55Q|ENST00000560474,p.K64Q|ENST00000557914,p.K55Q|ENST00000288228,p.K55Q|ENST00000561361,p.K55Q|uc010uha.2,p.K55Q|ENST00000559628,p.K55Q|ENST00000560394,p.K55Q	retained_intron, protein_coding, processed_transcript	uc010uha.2	nonsynonymous SNV	exon3	c.A163C	p.K55Q	TTAALVEHAFRIKDDIVNSLQKMQN	TTAALVEHAFRIQDDIVNSLQKMQN	7.0	5.0	-	-	2369_15:59752274-59752274 A>C_TTAALVEHAFRIQDDIVNSLQKMQN
12:53646663-53646663 C>T	1.0	2369	MELANOMA	-	-	-	-	MFSD5	ENST00000329548,p.S15F|uc001sch.2,p.S122F|uc001sci.2,p.S15F|NM_001170790,p.S122F|ENST00000551660,p.S122F|ENST00000534842,p.S122F|uc021qye.1,p.S15F|NM_032889,p.S15F	protein_coding, processed_transcript	uc021qye.1	nonsynonymous SNV	exon1	c.C44T	p.S15F	VTAYLAFVGLLASCLGLELSRCRAK	VTAYLAFVGLLAFCLGLELSRCRAK	9.0	10.0	-	-	2369_12:53646663-53646663 C>T_VTAYLAFVGLLAFCLGLELSRCRAK
7:2041710-2041710 C>T	1.0	2369	MELANOMA	-	-	-	-	MAD1L1	uc010ksh.1,p.R469K|uc010ksj.3,p.R469K|ENST00000444373,p.R59K|ENST00000406869,p.R469K|uc003sle.1,p.R198K|uc003slh.1,p.R469K|uc003sli.1,p.R377K|uc010ksi.1,p.R422K|uc003slf.1,p.R469K|NM_001013836,p.R469K|ENST00000402746,p.R377K|ENST00000265854,p.R469K|NM_003550,p.R469K|uc003slg.1,p.R469K|NM_001013837,p.R469K|ENST00000438959,p.R136K|ENST00000399654,p.R469K	protein_coding, processed_transcript	uc010ksj.3	nonsynonymous SNV	exon14	c.G1406A	p.R469K	SQALEELGGQKQRADMLEMELKMLK	SQALEELGGQKQKADMLEMELKMLK	10.0	5.0	-	-	2369_7:2041710-2041710 C>T_SQALEELGGQKQKADMLEMELKMLK
6:168352119-168352119 C>T	1.0	2369	MELANOMA	-	-	-	1	MLLT4	uc021zij.1,p.A1338V|ENST00000344191,p.A1355V|NM_001291964,p.A1314V|ENST00000447894,p.A1355V|uc003qwc.2,p.A1355V|ENST00000392108,p.A1355V|ENST00000400822,p.A1354V|ENST00000366806,p.A1355V|uc021zim.1,p.A901V|ENST00000392112,p.A1338V|uc021zik.1,p.A1314V|ENST00000351017,p.A1362V|NM_001040000,p.A1355V|uc003qwb.1,p.A1339V|uc003qwg.1,p.A664V|NM_001207008,p.A1338V	retained_intron, protein_coding, processed_transcript	uc021zim.1	nonsynonymous SNV	exon22	c.C2702T	p.A901V	WKTPAAIPATPVAVSQPIRTDLPPP	WKTPAAIPATPVVVSQPIRTDLPPP	9.0	9.0	-	-	2369_6:168352119-168352119 C>T_WKTPAAIPATPVVVSQPIRTDLPPP
15:80762759-80762759 T>G	1.0	2369	MELANOMA	-	-	-	-	ARNT2	uc002bfq.3,p.F132C|ENST00000303329,p.F132C|NM_014862,p.F132C|uc002bfr.3,p.F132C|ENST00000527771,p.F121C|ENST00000533983,p.F121C|uc002bfs.3,p.F121C|uc010unm.2,p.F121C	retained_intron, protein_coding, processed_transcript	uc010unm.2	nonsynonymous SNV	exon4	c.T362G	p.F121C	GNKSTDGAYKPSFLTEQELKHLILE	GNKSTDGAYKPSCLTEQELKHLILE	10.0	9.0	-	-	2369_15:80762759-80762759 T>G_GNKSTDGAYKPSCLTEQELKHLILE
X:41043775-41043775 C>A	1.0	2369	MELANOMA	-	-	-	-	USP9X	uc004dfc.3,p.F1135L|NM_001039590,p.F1135L|NM_001039591,p.F1135L|uc004dfb.3,p.F1135L|ENST00000378308,p.F1135L|ENST00000324545,p.F1135L	retained_intron, protein_coding, nonsense_mediated_decay	uc004dfc.3	nonsynonymous SNV	exon23	c.C3405A	p.F1135L	LPLVLSMLTRNNFLPNADMETRRGA	LPLVLSMLTRNNLLPNADMETRRGA	9.0	10.0	-	-	2369_X:41043775-41043775 C>A_LPLVLSMLTRNNLLPNADMETRRGA
8:133790126-133790126 C>T	1.0	2369	MELANOMA	-	-	-	-	PHF20L1	uc011lja.2,p.R18C|ENST00000315808,p.R18C|ENST00000395386,p.R18C|uc003ytr.3,p.R18C|uc003ytt.3,p.R18C|NM_016018,p.R18C|NM_198513,p.R18C|ENST00000486199,p.R18C|ENST00000395383,p.R18C|uc010mdv.3,p.R18C|NM_001277196,p.R18C|ENST00000395390,p.R18C|ENST00000361997,p.R18C|ENST00000337920,p.R18C|ENST00000395379,p.R18C|ENST00000395376,p.R18C	retained_intron, protein_coding, nonsense_mediated_decay	uc011lja.2	nonsynonymous SNV	exon2	c.C52T	p.R18C	PNRPGITFEIGARLEALDYLQKWYP	PNRPGITFEIGACLEALDYLQKWYP	8.0	7.0	-	-	2369_8:133790126-133790126 C>T_PNRPGITFEIGACLEALDYLQKWYP
3:5244711-5244711 G>A	1.0	2369	MELANOMA	-	-	-	-	EDEM1	ENST00000445686,p.G112S|uc003bqi.3,p.G307S|ENST00000256497,p.G307S|NM_014674,p.G307S|uc021wsl.1,p.G112S|uc011asz.1,p.G85S	retained_intron, protein_coding, nonsense_mediated_decay	uc021wsl.1	nonsynonymous SNV	exon5	c.G334A	p.G112S	PDTNNETCTAGAGSLLVEFGILSRL	PDTNNETCTAGASSLLVEFGILSRL	9.0	6.0	-	-	2369_3:5244711-5244711 G>A_PDTNNETCTAGASSLLVEFGILSRL
16:633500-633500 C>T	1.0	2369	MELANOMA	-	-	-	-	PIGQ	ENST00000026218,p.P717S|NM_148920,p.P717S|uc002chp.3,p.P287S|uc002cho.3,p.P717S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002chp.3	nonsynonymous SNV	exon2	c.C859T	p.P287S	QDEPPSPRHPLAPSAEQHPASGGLK	QDEPPSPRHPLASSAEQHPASGGLK	7.0	8.0	-	-	2369_16:633500-633500 C>T_QDEPPSPRHPLASSAEQHPASGGLK
19:58491633-58491633 G>A	1.0	2369	MELANOMA	-	-	-	-	ZNF606	uc010yhp.2,p.L49F|uc002qqw.3,p.L139F|ENST00000536132,p.L49F|ENST00000341164,p.L139F|ENST00000551380,p.L139F|NM_025027,p.L139F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yhp.2	nonsynonymous SNV	exon6	c.C145T	p.L49F	CPQRTCPEWVRNLESKALIPAQSIF	CPQRTCPEWVRNFESKALIPAQSIF	6.0	7.0	-	-	2369_19:58491633-58491633 G>A_CPQRTCPEWVRNFESKALIPAQSIF
22:23630303-23630303 C>T	1.0	2369	MELANOMA	-	-	ID=COSM1714192;OCCURENCE=1(skin)	1	BCR	NM_021574,p.S849F|uc002zwx.3,p.S849F|uc011aiy.2,p.S438F|ENST00000305877,p.S849F|uc002zww.3,p.S849F|uc002zwy.2,p.S135F|ENST00000359540,p.S849F|NM_004327,p.S849F	retained_intron, protein_coding, processed_transcript	uc011aiy.2	nonsynonymous SNV	exon12	c.C1313T	p.S438F	HSRNGKSYTFLISSDYERAEWRENI	HSRNGKSYTFLIFSDYERAEWRENI	7.0	7.0	-	-	2369_22:23630303-23630303 C>T_HSRNGKSYTFLIFSDYERAEWRENI
22:38211775-38211775 C>T	1.0	2369	MELANOMA	-	-	-	-	GCAT	ENST00000248924,p.S307F|NM_001171690,p.S333F|uc003atz.3,p.S307F|ENST00000323205,p.S333F|NM_014291,p.S307F|uc003aua.2,p.S333F	retained_intron, protein_coding, nonsense_mediated_decay	uc003aua.2	nonsynonymous SNV	exon7	c.C998T	p.S333F	SNSLPPAVVGCASKALDLLMGSNTI	SNSLPPAVVGCAFKALDLLMGSNTI	8.0	4.0	-	-	2369_22:38211775-38211775 C>T_SNSLPPAVVGCAFKALDLLMGSNTI
4:68490723-68490723 C>T	1.0	2369	MELANOMA	-	-	-	-	UBA6	uc003hdg.4,p.V901I|ENST00000322244,p.V901I|NM_018227,p.V901I	retained_intron, protein_coding, nonsense_mediated_decay	uc003hdg.4	nonsynonymous SNV	exon29	c.G2701A	p.V901I	KIIPAIATTTATVSGLVALEMIKVT	KIIPAIATTTATISGLVALEMIKVT	7.0	9.0	-	-	2369_4:68490723-68490723 C>T_KIIPAIATTTATISGLVALEMIKVT
1:120466293-120466293 G>A	1.0	2369	MELANOMA	-	-	-	1	NOTCH2	NM_024408,p.S1609F|ENST00000256646,p.S1609F|uc001eik.3,p.S1609F	protein_coding, processed_transcript	uc001eik.3	nonsynonymous SNV	exon26	c.C4826T	p.S1609F	SAAMKKQRMTRRSLPGEQEQEVAGS	SAAMKKQRMTRRFLPGEQEQEVAGS	8.0	10.0	-	-	2369_1:120466293-120466293 G>A_SAAMKKQRMTRRFLPGEQEQEVAGS
7:1097631-1097633 CTC>-	0.0	2369	MELANOMA	-	-	-	-	GPR146	uc003sjy.1,p.160_161del|ENST00000397095,p.160_161del|NM_138445,p.160_161del|ENST00000297468,p.160_161del|uc003sjx.4,p.160_161del	protein_coding, processed_transcript	uc003sjy.1	nonframeshift deletion	exon1	c.480_482del	p.160_161del	CGFVWGGALLTSFSSLLFYICSHVS	CGFVWGGALLTSFSLLFYICSHVST	6.0	1.0	unscreened	-	2369_7:1097631-1097633 CTC>-_CGFVWGGALLTSFSLLFYICSHVST
15:78474955-78474955 C>T	0.0	2369	MELANOMA	-	-	-	-	ACSBG1	uc002bdh.3,p.M249I|NM_015162,p.M249I|uc010umy.2,p.M142I|uc010umw.2,p.M245I|ENST00000258873,p.M249I|NM_001199377,p.M245I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010umy.2	nonsynonymous SNV	exon6	c.G426A	p.M142I	EPPPNKMANVYTMEEFMELGNEVPE	EPPPNKMANVYTIEEFMELGNEVPE	6.0	6.0	unscreened	-	2369_15:78474955-78474955 C>T_EPPPNKMANVYTIEEFMELGNEVPE
8:12291593-12291593 C>A	1.0	2369	MELANOMA	-	rs2684093	-	-	FAM86B2	NM_001137610,p.D43Y|uc003wvt.4,p.D43Y|ENST00000262365,p.D43Y|ENST00000527331,p.D43Y|ENST00000532480,p.D43Y|ENST00000351291,p.D43Y|ENST00000309608,p.D43Y	protein_coding	uc003wvt.4	nonsynonymous SNV	exon2	c.G127T	p.D43Y	WQSLEAKLRDSSDSELLRDILQKTV	WQSLEAKLRDSSYSELLRDILQKTV	5.0	2.0	unscreened	-	2369_8:12291593-12291593 C>A_WQSLEAKLRDSSYSELLRDILQKTV
5:11098743-11098743 C>T	1.0	2369	MELANOMA	-	-	-	2	CTNND2	ENST00000458100,p.D428N|uc010itt.2,p.D770N|uc011cmx.1,p.D428N|NM_001288717,p.D428N|NM_001288716,p.D524N|ENST00000503622,p.D524N|ENST00000304623,p.D861N|NM_001288715,p.D770N|ENST00000511377,p.D770N|uc003jfa.1,p.D861N|uc011cmy.1,p.D524N|uc011cmz.1,p.D428N|NM_001332,p.D861N|ENST00000513588,p.D615N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cmz.1	nonsynonymous SNV	exon14	c.G1282A	p.D428N	PYLTLLSECSNPDTLEGAAGALQNL	PYLTLLSECSNPNTLEGAAGALQNL	6.0	7.0	unscreened	-	2369_5:11098743-11098743 C>T_PYLTLLSECSNPNTLEGAAGALQNL
16:22545979-22545979 C>G	0.0	2369	MELANOMA	-	-	ID=COSM1191745,COSM1191744;OCCURENCE=1(central_nervous_system)	-	NPIPB5	ENST00000517539,p.P559A|uc010bxg.3,p.P559A|uc010vbv.2,p.P559A|ENST00000424340,p.P559A|NM_001135865,p.P559A|ENST00000415833,p.P559A|uc010bxk.3,p.P376A|uc021tew.1,p.P559A|ENST00000528249,p.P559A|uc010bxi.3,p.P540A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tew.1	nonsynonymous SNV	exon8	c.C1675G	p.P559A	DNLKTPSERQLTPLPPSAPPSADDN	DNLKTPSERQLTALPPSAPPSADDN	9.0	1.0	unscreened	-	2369_16:22545979-22545979 C>G_DNLKTPSERQLTALPPSAPPSADDN
6:30673187-30673187 T>G	0.0	2369	MELANOMA	-	-	-	-	MDC1	uc011dmp.1,p.Q865P|ENST00000376406,p.Q1258P|uc003nrg.4,p.Q1258P|ENST00000376405,p.Q994P|NM_014641,p.Q1258P	retained_intron, protein_coding, processed_transcript	uc011dmp.1	nonsynonymous SNV	exon10	c.A2594C	p.Q865P	TAPELQPSTSTDQPVTSEPTYQATR	TAPELQPSTSTDPPVTSEPTYQATR	7.0	1.0	unscreened	-	2369_6:30673187-30673187 T>G_TAPELQPSTSTDPPVTSEPTYQATR
19:5645402-5645402 A>G	1.0	2369	MELANOMA	0.0	-	-	-	SAFB	ENST00000292123,p.I201V|NM_001201338,p.I201V|uc002mcg.3,p.I201V|ENST00000538656,p.I44V|ENST00000588852,p.I201V|NM_002967,p.I201V|uc010xit.2,p.I44V|uc010xir.2,p.I201V|NM_001201340,p.I132V|ENST00000454510,p.I132V|NM_001201339,p.I201V|ENST00000433404,p.I31V|uc002mcf.3,p.I201V|uc010xis.2,p.I132V|ENST00000592224,p.I201V|uc002mce.4,p.I201V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xit.2	nonsynonymous SNV	exon3	c.A130G	p.I44V	INNLDTSSSDFTILQEIEEPSLEPE	INNLDTSSSDFTVLQEIEEPSLEPE	10.0	4.0	-	-	2369_19:5645402-5645402 A>G_INNLDTSSSDFTVLQEIEEPSLEPE
19:5645402-5645402 A>G	1.0	2369	MELANOMA	0.0	-	-	-	SAFB	uc010xiq.2,p.I201V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xiq.2	nonsynonymous SNV	exon5	c.A601G	p.I201V	INNLDTSSSDFTILQEIEEPSLEPG	INNLDTSSSDFTVLQEIEEPSLEPG	10.0	4.0	unscreened	-	2369_19:5645402-5645402 A>G_INNLDTSSSDFTVLQEIEEPSLEPG
3:186502474-186502474 C>T	1.0	2369	MELANOMA	-	-	-	1	EIF4A2	uc003fqv.3,p.P18S|ENST00000356531,p.P18S|uc003fqw.3,p.P18S	retained_intron, protein_coding, nonsense_mediated_decay	uc003fqw.3	nonsynonymous SNV	exon3	c.C52T	p.P18S	RSLPLFSRELLFPVLKIQKVILALG	RSLPLFSRELLFSVLKIQKVILALG	10.0	7.0	unscreened	-	2369_3:186502474-186502474 C>T_RSLPLFSRELLFSVLKIQKVILALG
16:71411648-71411648 G>A	1.0	2369	MELANOMA	-	-	-	-	CALB2	uc002fac.4,p.E114K|uc002faa.4,p.E114K|NM_007088,p.E114K|NM_001740,p.E114K|ENST00000349553,p.E114K|ENST00000302628,p.E114K	retained_intron, protein_coding	uc002fac.4	nonsynonymous SNV	exon4	c.G340A	p.E114K	FRQHVGSSAEFMEAWRKYDTDRSGY	FRQHVGSSAEFMKAWRKYDTDRSGY	8.0	9.0	-	-	2369_16:71411648-71411648 G>A_FRQHVGSSAEFMKAWRKYDTDRSGY
2:43625226-43625231 CCAAGG>-	1.0	2369	MELANOMA	-	-	-	-	THADA	uc002rsx.4,p.1369_1371del|NM_022065,p.1369_1371del|ENST00000415080,p.1050_1052del|uc010fat.1,p.516_518del|uc010far.3,p.564_566del|ENST00000405975,p.1369_1371del|NM_001083953,p.1369_1371del|uc002rsz.3,p.1078_1080del|uc002rsw.4,p.1369_1371del|ENST00000405006,p.1369_1371del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fat.1	nonframeshift deletion	exon14	c.1547_1552del	p.516_518del	SPVYHSREMAARALVPFVMIDHIPN	SPVYHSREMAARVPFVMIDHIPNTI	7.0	4.0	unscreened	-	2369_2:43625226-43625231 CCAAGG>-_SPVYHSREMAARVPFVMIDHIPNTI
20:42164771-42164771 C>T	1.0	2369	MELANOMA	-	-	-	-	L3MBTL1	uc002xkn.1,p.H323Y|NM_015478,p.H564Y|NM_032107,p.H632Y|ENST00000422861,p.H350Y|ENST00000444063,p.H564Y|ENST00000418998,p.H632Y|uc002xkl.3,p.H564Y|ENST00000373134,p.H569Y|uc010zwh.2,p.H632Y|uc010ggl.4,p.H569Y|ENST00000373135,p.H564Y|ENST00000427442,p.H632Y|uc002xko.4,p.H216Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zwh.2	nonsynonymous SNV	exon18	c.C1894T	p.H632Y	RKCPTPGCDGSGHVTGKFTAHHCLS	RKCPTPGCDGSGYVTGKFTAHHCLS	7.0	4.0	-	-	2369_20:42164771-42164771 C>T_RKCPTPGCDGSGYVTGKFTAHHCLS
12:119631508-119631508 C>T	1.0	2369	MELANOMA	-	-	-	-	HSPB8	ENST00000281938,p.P146S|uc001txb.3,p.P146S|NM_014365,p.P146S	protein_coding, processed_transcript	uc001txb.3	nonsynonymous SNV	exon3	c.C436T	p.P146S	IVSKNFTKKIQLPAEVDPVTVFASL	IVSKNFTKKIQLSAEVDPVTVFASL	8.0	3.0	-	-	2369_12:119631508-119631508 C>T_IVSKNFTKKIQLSAEVDPVTVFASL
1:221053728-221053728 G>A	1.0	2369	MELANOMA	-	-	-	-	HLX	NM_021958,p.G177R|ENST00000366903,p.G177R|uc001hmv.4,p.G177R	protein_coding	uc001hmv.4	nonsynonymous SNV	exon1	c.G529A	p.G177R	SAPAPSSKDLKFGIDRILSAEFDPK	SAPAPSSKDLKFRIDRILSAEFDPK	4.0	6.0	unscreened	-	2369_1:221053728-221053728 G>A_SAPAPSSKDLKFRIDRILSAEFDPK
2:97031690-97031690 C>T	1.0	2369	MELANOMA	-	-	-	-	NCAPH	NM_001281710,p.P581L|ENST00000455200,p.P581L|ENST00000427946,p.P456L|ENST00000435975,p.P581L|NM_001281711,p.P568L|ENST00000240423,p.P592L|uc010fhv.1,p.P581L|NM_001281712,p.P456L|uc010yum.1,p.P568L|uc010yun.1,p.P456L|NM_015341,p.P592L|uc002svz.1,p.P592L	retained_intron, protein_coding	uc010yun.1	nonsynonymous SNV	exon13	c.C1367T	p.P456L	VGPVGNSDLSPYPCHPPKTAQQNGD	VGPVGNSDLSPYLCHPPKTAQQNGD	7.0	4.0	-	-	2369_2:97031690-97031690 C>T_VGPVGNSDLSPYLCHPPKTAQQNGD
11:124013167-124013167 T>C	1.0	2369	MELANOMA	-	-	-	-	VWA5A	uc001pzt.3,p.L681P|ENST00000392748,p.L681P|NM_014622,p.L681P|ENST00000456829,p.L681P|NM_001130142,p.L681P|uc001pzu.3,p.L681P	retained_intron, protein_coding	uc001pzu.3	nonsynonymous SNV	exon17	c.T2042C	p.L681P	KDQHSPGFGENHLVQLIYHQNANGS	KDQHSPGFGENHPVQLIYHQNANGS	6.0	9.0	-	-	2369_11:124013167-124013167 T>C_KDQHSPGFGENHPVQLIYHQNANGS
12:91502039-91502039 C>T	1.0	2369	MELANOMA	-	-	ID=COSM169079;OCCURENCE=1(breast),1(skin),2(large_intestine),1(endometrium)	-	LUM	NM_002345,p.E240K|ENST00000266718,p.E240K|uc001tbm.3,p.E240K	protein_coding, processed_transcript	uc001tbm.3	nonsynonymous SNV	exon2	c.G718A	p.E240K	FNALQYLRLSHNELADSGIPGNSFN	FNALQYLRLSHNKLADSGIPGNSFN	10.0	9.0	-	-	2369_12:91502039-91502039 C>T_FNALQYLRLSHNKLADSGIPGNSFN
11:61067637-61067637 C>T	1.0	2369	MELANOMA	-	-	-	-	DDB1	ENST00000538470,p.V179I|ENST00000451943,p.V119I|ENST00000301764,p.V1132I|uc001nrc.5,p.V1132I|ENST00000450997,p.V443I|NM_001923,p.V1132I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001nrc.5	nonsynonymous SNV	exon27	c.G3394A	p.V1132I	MKREATADDLIKVVEELTRIH	MKREATADDLIKIVEELTRIH	10.0	7.0	-	-	2369_11:61067637-61067637 C>T_MKREATADDLIKIVEELTRIH
15:89876827-89876827 ->TGCTGC	1.0	2369	MELANOMA	-	-	-	2	POLG	NM_001126131,p.Q53delinsQQQ|uc002bns.4,p.Q53delinsQQQ|uc002bnr.4,p.Q53delinsQQQ|ENST00000442287,p.Q53delinsQQQ|ENST00000268124,p.Q53delinsQQQ|NM_002693,p.Q53delinsQQQ	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bns.4	nonframeshift insertion	exon2	c.158_159insGCAGCA	p.Q53delinsQQQ	RRQQQQQQQQQQQQQPQQPQVLSSE	RRQQQQQQQQQQQQQQQPQQPQVLS	8.0	1.0	unscreened	-	2369_15:89876827-89876827 ->TGCTGC_RRQQQQQQQQQQQQQQQPQQPQVLS
4:80246922-80246922 G>A	1.0	2369	MELANOMA	-	-	-	-	NAA11	uc003hlt.4,p.S37F|ENST00000286794,p.S37F|uc021xpl.1,p.S37F|NM_032693,p.S37F	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xpl.1	nonsynonymous SNV	exon1	c.C110T	p.S37F	NYQMKYYLYHGLSWPQLSYIAEDED	NYQMKYYLYHGLFWPQLSYIAEDED	8.0	4.0	-	-	2369_4:80246922-80246922 G>A_NYQMKYYLYHGLFWPQLSYIAEDED
1:94001929-94001929 C>T	0.0	2369	MELANOMA	-	-	-	-	FNBP1L	uc010otk.2,p.S344F|ENST00000271234,p.S344F|NM_001164473,p.S344F|ENST00000604705,p.S344F|ENST00000370256,p.S344F	protein_coding	uc010otk.2	nonsynonymous SNV	exon10	c.C1031T	p.S344F	QSPPLTPTSLFTSSTPNGSQFLTFS	QSPPLTPTSLFTFSTPNGSQFLTFS	9.0	10.0	-	-	2369_1:94001929-94001929 C>T_QSPPLTPTSLFTFSTPNGSQFLTFS
1:109170810-109170810 C>T	1.0	2369	MELANOMA	-	-	-	-	FAM102B	NM_001010883,p.S193F|uc010ouy.2,p.S193F|ENST00000405454,p.S193F|ENST00000370035,p.S193F	retained_intron, protein_coding	uc010ouy.2	nonsynonymous SNV	exon7	c.C578T	p.S193F	HLGIADLSAKSASVPDELGACGHSR	HLGIADLSAKSAFVPDELGACGHSR	8.0	10.0	-	-	2369_1:109170810-109170810 C>T_HLGIADLSAKSAFVPDELGACGHSR
9:35091687-35091687 G>A	0.0	2369	MELANOMA	-	-	-	-	PIGO	ENST00000341666,p.R733W|uc003zwg.2,p.R296W|NM_032634,p.R733W|uc003zwd.3,p.R733W|ENST00000378617,p.R733W	protein_coding, processed_transcript	uc003zwg.2	nonsynonymous SNV	exon3	c.C886T	p.R296W	LASGADEAPPRLRVLVSGASMVLPR	LASGADEAPPRLWVLVSGASMVLPR	7.0	5.0	-	-	2369_9:35091687-35091687 G>A_LASGADEAPPRLWVLVSGASMVLPR
19:36673484-36673484 G>A	1.0	2369	MELANOMA	-	-	-	-	ZNF565	NM_152477,p.L462F|uc010ees.3,p.L397F|ENST00000304116,p.L462F|NM_001042474,p.L462F|ENST00000355114,p.L502F|ENST00000392173,p.L462F|uc002odn.3,p.L462F|uc002odo.3,p.L462F	retained_intron, protein_coding	uc010ees.3	nonsynonymous SNV	exon4	c.C1189T	p.L397F	RECGMAFIRSSQLTEHQRIHPGIKP	RECGMAFIRSSQFTEHQRIHPGIKP	5.0	9.0	unscreened	-	2369_19:36673484-36673484 G>A_RECGMAFIRSSQFTEHQRIHPGIKP
8:125551250-125551269 AAAACGCTCCTCTTACCGAT>-	0.0	2369	MELANOMA	-	-	-	-	TATDN1	ENST00000523152,p.I7fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000523152	frameshift deletion	exon1	c.19_22del	p.I7fs	MSRFKFIGMFFSTVGCHPT	MSRFKFVCFSVQLDVILQDVVNLKRITLIFT	9.0	2.0	unscreened	-	2369_8:125551250-125551269 AAAACGCTCCTCTTACCGAT>-_MSRFKFVCFSVQLDVILQDVVNLKRITLIFT
4:69197868-69197868 G>A	1.0	2369	MELANOMA	-	-	-	-	YTHDC1	uc003hdx.3,p.L359F|ENST00000579690,p.L359F|NM_001031732,p.L359F|ENST00000355665,p.L341F|NM_133370,p.L341F|ENST00000344157,p.L359F|uc003hdy.3,p.L341F	retained_intron, protein_coding	uc003hdy.3	nonsynonymous SNV	exon6	c.C1021T	p.L341F	KLKYVLQDARFFLIKSNNHENVSLA	KLKYVLQDARFFFIKSNNHENVSLA	9.0	6.0	-	-	2369_4:69197868-69197868 G>A_KLKYVLQDARFFFIKSNNHENVSLA
X:10176241-10176241 C>T	1.0	2369	MELANOMA	-	-	-	-	CLCN4	ENST00000421085,p.P240S|uc004csy.4,p.P334S|NM_001256944,p.P240S|NM_001830,p.P334S|ENST00000380833,p.P334S|uc011mid.3,p.P240S	protein_coding	uc011mid.3	nonsynonymous SNV	exon7	c.C718T	p.P240S	EYHTPWYMAELFPFILLGVFGGLWG	EYHTPWYMAELFSFILLGVFGGLWG	6.0	10.0	-	-	2369_X:10176241-10176241 C>T_EYHTPWYMAELFSFILLGVFGGLWG
19:1221313-1221313 ->CC	1.0	2369	MELANOMA	-	-	-	1	STK11	uc002lrl.1,p.G279fs|NM_000455,p.G279fs|ENST00000326873,p.G279fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lrl.1	frameshift insertion	exon6	c.836_837insCC	p.G279fs	IGKGSYAIPGDCGPPLSDLLKGMLE	IGKGSYAIPGDCGPPRSLTC	7.0	9.0	unscreened	-	2369_19:1221313-1221313 ->CC_IGKGSYAIPGDCGPPRSLTC
19:57089220-57089220 C>T	1.0	2369	MELANOMA	-	-	-	-	ZNF470	ENST00000330619,p.H475Y|ENST00000391709,p.H475Y|NM_001001668,p.H475Y|uc002qnl.4,p.H475Y	protein_coding, processed_transcript	uc002qnl.4	nonsynonymous SNV	exon6	c.C1423T	p.H475Y	SHRGSLTLHQRVHTGEKPYECKECG	SHRGSLTLHQRVYTGEKPYECKECG	6.0	8.0	-	-	2369_19:57089220-57089220 C>T_SHRGSLTLHQRVYTGEKPYECKECG
21:47754510-47754510 A>G	1.0	2369	MELANOMA	-	rs61735825	-	-	PCNT	NM_006031,p.H156R|ENST00000359568,p.H156R|uc002zjj.3,p.H38R|uc002zji.4,p.H156R	retained_intron, protein_coding, processed_transcript	uc002zjj.3	nonsynonymous SNV	exon3	c.A113G	p.H38R	GMFTVSDHPPEQHGMFTVSDHPPEQ	GMFTVSDHPPEQRGMFTVSDHPPEQ	7.0	2.0	unscreened	-	2369_21:47754510-47754510 A>G_GMFTVSDHPPEQRGMFTVSDHPPEQ
1:171086386-171086386 C>T	0.0	2369	MELANOMA	-	-	-	-	FMO3	uc010pmb.2,p.P448L|ENST00000538429,p.P405L|ENST00000542847,p.P448L|uc001ghi.3,p.P468L|ENST00000367755,p.P468L|ENST00000392085,p.P468L|uc010pmc.2,p.P405L|uc001ghh.3,p.P468L|NM_001002294,p.P468L|NM_006894,p.P468L	protein_coding, processed_transcript	uc010pmc.2	nonsynonymous SNV	exon8	c.C1214T	p.P405L	KLAMEVYFGPCSPYQFRLVGPGQWP	KLAMEVYFGPCSLYQFRLVGPGQWP	2.0	7.0	unscreened	-	2369_1:171086386-171086386 C>T_KLAMEVYFGPCSLYQFRLVGPGQWP
1:85279710-85279710 G>A	0.0	2369	MELANOMA	-	-	-	-	LPAR3	uc001dkl.2,p.S294F|ENST00000440886,p.S294F|NM_012152,p.S294F|ENST00000370611,p.S294F|uc009wcj.1,p.S294F	protein_coding, processed_transcript	uc009wcj.1	nonsynonymous SNV	exon3	c.C881T	p.S294F	ALLNSVVNPIIYSYKDEDMYGTMKK	ALLNSVVNPIIYFYKDEDMYGTMKK	1.0	10.0	unscreened	-	2369_1:85279710-85279710 G>A_ALLNSVVNPIIYFYKDEDMYGTMKK
12:19422819-19422819 G>A	0.0	2369	MELANOMA	-	-	-	-	PLEKHA5	NM_001256470,p.R276K|uc031qgo.1,p.R276K|ENST00000429027,p.R276K|uc010sie.2,p.R276K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qgo.1	nonsynonymous SNV	exon9	c.G827A	p.R276K	LDAALVQTEPVKRITFNFRVDKITS	LDAALVQTEPVKKITFNFRVDKITS	10.0	2.0	unscreened	-	2369_12:19422819-19422819 G>A_LDAALVQTEPVKKITFNFRVDKITS
17:11784563-11784563 C>T	1.0	2369	MELANOMA	-	-	-	-	DNAH9	uc010coo.3,p.P2841S|NM_001372,p.P3547S|ENST00000454412,p.P3547S|ENST00000262442,p.P3547S|uc002gne.3,p.P3547S	retained_intron, protein_coding, processed_transcript	uc010coo.3	nonsynonymous SNV	exon43	c.C8521T	p.P2841S	FIKIGDKECEYNPKFRLILHTKLAN	FIKIGDKECEYNSKFRLILHTKLAN	7.0	9.0	-	-	2369_17:11784563-11784563 C>T_FIKIGDKECEYNSKFRLILHTKLAN
22:31846306-31846306 G>A	1.0	2369	MELANOMA	-	-	-	-	EIF4ENIF1	uc003ala.2,p.P518L|ENST00000330125,p.P518L|ENST00000397525,p.P518L|NM_001164502,p.P343L|uc003alb.2,p.P343L|NM_019843,p.P518L|uc003aky.2,p.P197L|NM_001164501,p.P518L|ENST00000344710,p.P343L|uc003akz.2,p.P518L	retained_intron, protein_coding, nonsense_mediated_decay	uc003alb.2	nonsynonymous SNV	exon9	c.C1028T	p.P343L	NLESHLMSPAEIPGQPVPKNILQEL	NLESHLMSPAEILGQPVPKNILQEL	8.0	6.0	-	-	2369_22:31846306-31846306 G>A_NLESHLMSPAEILGQPVPKNILQEL
17:26961102-26961102 G>A	1.0	2369	MELANOMA	-	-	-	-	KIAA0100	ENST00000389003,p.R882W|NM_014680,p.R1025W|ENST00000544884,p.R882W|uc002hbu.3,p.R1025W|ENST00000528896,p.R1025W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002hbu.3	nonsynonymous SNV	exon17	c.C3073T	p.R1025W	RMLKCNVKSFLVRIRDYPRYLFEIR	RMLKCNVKSFLVWIRDYPRYLFEIR	10.0	7.0	-	-	2369_17:26961102-26961102 G>A_RMLKCNVKSFLVWIRDYPRYLFEIR
7:151927021-151927021 C>A	0.0	2369	MELANOMA	-	rs76778303	ID=COSM150426;OCCURENCE=1(stomach),3(thyroid)	1	KMT2C	NM_170606,p.C988F|ENST00000355193,p.C988F|ENST00000262189,p.C988F|uc003wkz.3,p.C49F|uc003wla.3,p.C988F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003wla.3	nonsynonymous SNV	exon18	c.G2963T	p.C988F	ACSQCGQCYHPYCVSIKITKVVLSK	ACSQCGQCYHPYFVSIKITKVVLSK	7.0	2.0	unscreened	-	2369_7:151927021-151927021 C>A_ACSQCGQCYHPYFVSIKITKVVLSK
15:43931923-43931923 C>A	0.0	2369	MELANOMA	-	-	-	-	CATSPER2	NM_001282310,p.C218F|NM_001282309,p.C212F|uc001zsh.3,p.C212F|ENST00000355438,p.C212F|ENST00000433380,p.C212F|ENST00000321596,p.C212F|uc001zsj.3,p.C212F|ENST00000396879,p.C212F|ENST00000381761,p.C218F|NM_054020,p.C212F|uc001zsi.3,p.C212F|ENST00000354127,p.C212F|NM_172095,p.C212F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zsj.3	nonsynonymous SNV	exon7	c.G635T	p.C212F	TGQSVWLQLLRICRVLRSLKLLAQF	TGQSVWLQLLRIFRVLRSLKLLAQF	5.0	8.0	unscreened	-	2369_15:43931923-43931923 C>A_TGQSVWLQLLRIFRVLRSLKLLAQF
6:39512294-39512294 G>A	0.0	2369	MELANOMA	-	-	-	-	KIF6	NM_001289021,p.S488F|uc010jxb.1,p.S488F|ENST00000538893,p.S488F	protein_coding, processed_transcript	uc010jxb.1	nonsynonymous SNV	exon12	c.C1463T	p.S488F	SILSEVMKKLPLSWFERGMREEMSL	SILSEVMKKLPLFWFERGMREEMSL	8.0	9.0	unscreened	-	2369_6:39512294-39512294 G>A_SILSEVMKKLPLFWFERGMREEMSL
19:53741769-53741769 C>T	1.0	2369	MELANOMA	-	-	-	-	ZNF677	ENST00000598513,p.E71K|ENST00000333952,p.E71K|uc002qbg.1,p.E71K|ENST00000594517,p.E71K|uc002qbf.1,p.E71K|NM_182609,p.E71K	retained_intron, protein_coding, processed_transcript	uc002qbg.1	nonsynonymous SNV	exon5	c.G211A	p.E71K	SVGFTSKGLSPKENNKEELYHLVIL	SVGFTSKGLSPKKNNKEELYHLVIL	9.0	4.0	-	-	2369_19:53741769-53741769 C>T_SVGFTSKGLSPKKNNKEELYHLVIL
3:154886557-154886557 G>A	1.0	2369	MELANOMA	-	-	-	-	MME	uc003fad.1,p.D651N|NM_007288,p.D651N|NM_000902,p.D651N|ENST00000493237,p.D651N|NM_007287,p.D651N|ENST00000460393,p.D651N|ENST00000360490,p.D651N|uc003fac.1,p.D651N|uc010hvr.1,p.D651N|ENST00000462745,p.D651N|ENST00000492661,p.D651N|uc003fae.1,p.D651N|NM_007289,p.D651N|uc003fab.1,p.D651N	retained_intron, protein_coding, processed_transcript	uc010hvr.1	nonsynonymous SNV	exon20	c.G1951A	p.D651N	LNGINTLGENIADNGGLGQAYRAYQ	LNGINTLGENIANNGGLGQAYRAYQ	10.0	6.0	-	-	2369_3:154886557-154886557 G>A_LNGINTLGENIANNGGLGQAYRAYQ
8:75761466-75761466 A>T	0.0	2369	MELANOMA	-	-	-	-	PI15	ENST00000523773,p.N252I|ENST00000260113,p.N252I|uc003yal.3,p.N252I|NM_015886,p.N252I|uc003yam.3,p.N252I	protein_coding	uc003yam.3	nonsynonymous SNV	exon5	c.A755T	p.N252I	CTDNLCFPGVTSNYLYWFK	CTDNLCFPGVTSIYLYWFK	6.0	6.0	-	-	2369_8:75761466-75761466 A>T_CTDNLCFPGVTSIYLYWFK
8:144657077-144657077 G>A	0.0	2369	MELANOMA	-	-	-	-	NAPRT	ENST00000340490,p.P545S|uc003yyo.4,p.P545S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yyo.4	nonsynonymous SNV	exon12	c.C1633T	p.P545S	RPHPAHRSCPLLPAGGAVREAAGPG	RPHPAHRSCPLLSAGGAVREAAGPG	9.0	2.0	unscreened	-	2369_8:144657077-144657077 G>A_RPHPAHRSCPLLSAGGAVREAAGPG
22:31846306-31846306 G>A	1.0	2369	MELANOMA	-	-	-	-	EIF4ENIF1	ENST00000418321,p.P116L	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000418321	nonsynonymous SNV	exon3	c.C347T	p.P116L	NLESHLMSPAEIPGQPVPKNILQVF	NLESHLMSPAEILGQPVPKNILQVF	8.0	6.0	unscreened	-	2369_22:31846306-31846306 G>A_NLESHLMSPAEILGQPVPKNILQVF
15:40758204-40758204 C>T	1.0	2369	MELANOMA	-	-	-	-	BAHD1	ENST00000561234,p.P739S|uc001zlu.2,p.P740S|ENST00000416165,p.P740S|uc001zlv.2,p.P737S|ENST00000560846,p.P737S|NM_001301132,p.P739S|NM_014952,p.P740S|uc001zlt.2,p.P739S|uc010bbp.1,p.P736S	retained_intron, protein_coding	uc010bbp.1	nonsynonymous SNV	exon7	c.C2206T	p.P736S	EGLPSRKTALVPPSADYSTPPHRTV	EGLPSRKTALVPSSADYSTPPHRTV	7.0	8.0	-	-	2369_15:40758204-40758204 C>T_EGLPSRKTALVPSSADYSTPPHRTV
9:43822686-43822686 C>A	1.0	2369	MELANOMA	-	rs3739622	ID=COSM3848596;OCCURENCE=1(breast)	-	CNTNAP3B	NM_001201380,p.R414S|ENST00000479351,p.R414S|uc004ada.2,p.R414S|ENST00000377564,p.R414S	protein_coding, processed_transcript, nonsense_mediated_decay	uc004ada.2	nonsynonymous SNV	exon8	c.C1240A	p.R414S	NRAGHLLFGELQRGSGSFVLFLKDG	NRAGHLLFGELQSGSGSFVLFLKDG	7.0	2.0	unscreened	-	2369_9:43822686-43822686 C>A_NRAGHLLFGELQSGSGSFVLFLKDG
12:4708255-4708255 C>T	0.0	2369	MELANOMA	-	-	ID=COSM3772621;OCCURENCE=1(pancreas)	-	DYRK4	NM_003845,p.R208W|uc001qmx.3,p.R208W|uc009zeh.1,p.R323W|ENST00000542744,p.R323W|uc001qmy.2,p.R208W|ENST00000543431,p.R208W|ENST00000010132,p.R208W|uc021qtq.1,p.R62W|ENST00000540757,p.R208W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qtq.1	nonsynonymous SNV	exon6	c.C184T	p.R62W	NNNFQGFSLSIVRRFTLSVLKCLQM	NNNFQGFSLSIVWRFTLSVLKCLQM	9.0	3.0	-	-	2369_12:4708255-4708255 C>T_NNNFQGFSLSIVWRFTLSVLKCLQM
21:34954320-34954320 G>A	1.0	2369	MELANOMA	-	-	-	-	DONSON	ENST00000303071,p.S363F|uc002ysk.4,p.S363F|uc002ysm.4,p.S363F|ENST00000432378,p.S363F|NM_017613,p.S363F|ENST00000453626,p.S363F|uc002ysi.1,p.S123F|ENST00000303113,p.S349F	retained_intron, protein_coding, nonsense_mediated_decay	uc002ysm.4	nonsynonymous SNV	exon10	c.C1088T	p.S363F	QAISDEDEEESFSWLEEMGVQDKIK	QAISDEDEEESFFWLEEMGVQDKIK	7.0	3.0	-	-	2369_21:34954320-34954320 G>A_QAISDEDEEESFFWLEEMGVQDKIK
19:57646767-57646767 C>T	0.0	2369	MELANOMA	0.0032	-	-	-	ZIM3	uc002qnz.1,p.G313E|NM_052882,p.G313E|ENST00000269834,p.G313E	protein_coding	uc002qnz.1	nonsynonymous SNV	exon5	c.G938A	p.G313E	HTGQKPFQCTDCGKAFIYKSDLVKH	HTGQKPFQCTDCEKAFIYKSDLVKH	1.0	8.0	unscreened	-	2369_19:57646767-57646767 C>T_HTGQKPFQCTDCEKAFIYKSDLVKH
20:34240740-34240740 ->GGGCCG	1.0	2369	MELANOMA	0.04	rs201181145	ID=COSM1483579;OCCURENCE=2(breast)	-	RBM12	uc021wcq.1,p.P835delinsPGP|ENST00000374114,p.P835delinsPGP|NM_152838,p.P835delinsPGP|uc002xds.3,p.P835delinsPGP|NM_006047,p.P835delinsPGP|uc002xdq.3,p.P835delinsPGP|uc002xdr.3,p.P835delinsPGP|NM_001198840,p.P835delinsPGP|NM_001198838,p.P835delinsPGP|ENST00000374104,p.P835delinsPGP|uc021wcr.1,p.P835delinsPGP|ENST00000359646,p.P835delinsPGP	protein_coding	uc021wcr.1	nonframeshift insertion	exon1	c.2504_2505insCGGCCC	p.P835delinsPGP	PAFGPGPGPGPGPGPIHIGGPPGFA	PAFGPGPGPGPGPGPGPIHIGGPPG	9.0	1.0	unscreened	-	2369_20:34240740-34240740 ->GGGCCG_PAFGPGPGPGPGPGPGPIHIGGPPG
2:171687555-171687555 C>T	1.0	2369	MELANOMA	-	-	ID=COSM1647099,COSM717764;OCCURENCE=1(lung),1(skin)	-	GAD1	ENST00000344257,p.R134C|ENST00000414527,p.R134C|ENST00000375272,p.R134C|uc002ugh.3,p.R134C|ENST00000358196,p.R134C|ENST00000493875,p.R134C|NM_000817,p.R134C|uc002ugi.3,p.R134C|NM_013445,p.R134C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ugi.3	nonsynonymous SNV	exon5	c.C400T	p.R134C	DILLNYVRKTFDRSTKVLDFHHPHQ	DILLNYVRKTFDCSTKVLDFHHPHQ	6.0	5.0	-	-	2369_2:171687555-171687555 C>T_DILLNYVRKTFDCSTKVLDFHHPHQ
11:63307033-63307033 C>T	0.0	2369	MELANOMA	-	-	-	-	RARRES3	ENST00000354445,p.L19F	protein_coding, processed_transcript	ENST00000354445	nonsynonymous SNV	exon2	c.C55T	p.L19F	KPKPGDLIEIFRLGYEHWALYIGDG	KPKPGDLIEIFRFGYEHWALYIGDG	5.0	3.0	unscreened	-	2369_11:63307033-63307033 C>T_KPKPGDLIEIFRFGYEHWALYIGDG
11:63307033-63307033 C>T	0.0	2369	MELANOMA	-	-	-	-	RARRES3	ENST00000255688,p.L19F|NM_004585,p.L19F|ENST00000439013,p.L19F|uc001nxf.4,p.L19F	protein_coding, processed_transcript	uc001nxf.4	nonsynonymous SNV	exon2	c.C55T	p.L19F	EPKPGDLIEIFRLGYEHWALYIGDG	EPKPGDLIEIFRFGYEHWALYIGDG	5.0	3.0	unscreened	-	2369_11:63307033-63307033 C>T_EPKPGDLIEIFRFGYEHWALYIGDG
8:145665789-145665789 G>A	1.0	2369	MELANOMA	-	-	-	-	TONSL	ENST00000409379,p.P412L|uc011llg.2,p.P412L|NM_013432,p.P412L	retained_intron, protein_coding	uc011llg.2	nonsynonymous SNV	exon10	c.C1235T	p.P412L	REEAGDAYELLAPCFQKALSCAQQA	REEAGDAYELLALCFQKALSCAQQA	6.0	2.0	unscreened	-	2369_8:145665789-145665789 G>A_REEAGDAYELLALCFQKALSCAQQA
8:133049720-133049720 G>A	0.0	2369	MELANOMA	-	-	-	-	OC90	NM_001080399,p.P215L|ENST00000603859,p.P215L|ENST00000254627,p.P215L|uc011lix.1,p.P215L	protein_coding	uc011lix.1	nonsynonymous SNV	exon9	c.C644T	p.P215L	LTTLLPRVVPVEPTDTSLTALSGEE	LTTLLPRVVPVELTDTSLTALSGEE	3.0	7.0	unscreened	-	2369_8:133049720-133049720 G>A_LTTLLPRVVPVELTDTSLTALSGEE
8:133049720-133049720 G>A	0.0	2369	MELANOMA	-	-	-	-	OC90	uc003ytg.2,p.P199L|ENST00000262283,p.P411L|ENST00000443356,p.P215L	protein_coding	uc003ytg.2	nonsynonymous SNV	exon7	c.C596T	p.P199L	LTTLLPRVVPVEPTDTSLTALSGEV	LTTLLPRVVPVELTDTSLTALSGEV	3.0	7.0	unscreened	-	2369_8:133049720-133049720 G>A_LTTLLPRVVPVELTDTSLTALSGEV
17:60754686-60754686 G>A	1.0	2369	MELANOMA	-	-	-	-	MRC2	NM_006039,p.E631K|ENST00000303375,p.E631K|uc002jad.4,p.E631K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jad.4	nonsynonymous SNV	exon12	c.G1891A	p.E631K	VALATGSAMGLWEVKNCTSFRARYI	VALATGSAMGLWKVKNCTSFRARYI	7.0	3.0	unscreened	-	2369_17:60754686-60754686 G>A_VALATGSAMGLWKVKNCTSFRARYI
1:59922692-59922692 G>A	1.0	2369	MELANOMA	-	-	-	-	FGGY	NM_018291,p.S205N|uc009wac.3,p.S205N|NM_001113411,p.S205N|ENST00000371218,p.S205N|uc001czi.4,p.S205N|NM_001244714,p.S117N|ENST00000371212,p.S117N|ENST00000303721,p.S205N|uc001czl.4,p.S117N|uc001czg.2,p.S93N|ENST00000430447,p.S205N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009wac.3	nonsynonymous SNV	exon6	c.G614A	p.S205N	KWTYSAEKGWDDSFWKMIGLEDFVA	KWTYSAEKGWDDNFWKMIGLEDFVA	6.0	10.0	unscreened	-	2369_1:59922692-59922692 G>A_KWTYSAEKGWDDNFWKMIGLEDFVA
5:156816212-156816212 C>T	1.0	2369	MELANOMA	-	-	-	-	CYFIP2	NM_001291721,p.R1049C|NM_001291722,p.R1100C|NM_001037333,p.R1075C|uc011ddn.2,p.R1049C|ENST00000347377,p.R1075C|ENST00000522463,p.R879C|uc011ddp.2,p.R809C|ENST00000377576,p.R1075C|ENST00000318218,p.R1100C|NM_014376,p.R1075C|ENST00000521420,p.R1049C|uc003lwt.3,p.R978C|uc011ddo.2,p.R879C|ENST00000541131,p.R1000C|ENST00000435847,p.R774C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ddp.2	nonsynonymous SNV	exon22	c.C2425T	p.R809C	ERLGTPQQIAIAREGDLLTKERLCC	ERLGTPQQIAIACEGDLLTKERLCC	9.0	10.0	-	-	2369_5:156816212-156816212 C>T_ERLGTPQQIAIACEGDLLTKERLCC
9:95043094-95043094 G>A	1.0	2369	MELANOMA	-	-	-	-	IARS	uc004art.2,p.P227S|NM_013417,p.P227S|NM_002161,p.P227S|uc004aru.4,p.P227S|ENST00000447699,p.P117S|uc004ars.2,p.P72S|ENST00000375643,p.P227S|ENST00000443024,p.P227S|ENST00000395554,p.P227S|uc010mqr.3,p.P117S	protein_coding, processed_transcript	uc010mqr.3	nonsynonymous SNV	exon6	c.C349T	p.P117S	DETVSLVAWTTTPWTLPSNLAVCVN	DETVSLVAWTTTSWTLPSNLAVCVN	9.0	10.0	-	-	2369_9:95043094-95043094 G>A_DETVSLVAWTTTSWTLPSNLAVCVN
7:72413581-72413581 G>A	0.0	2369	MELANOMA	-	-	-	-	POM121	ENST00000395270,p.V752I|ENST00000446813,p.V752I|uc003twk.2,p.V1017I|NM_001257190,p.V752I|uc010lam.1,p.V752I|uc031sxs.1,p.V752I|ENST00000257622,p.V752I|ENST00000358357,p.V752I|NM_172020,p.V752I|ENST00000434423,p.V1017I	protein_coding	uc031sxs.1	nonsynonymous SNV	exon11	c.G2254A	p.V752I	AAPTPAPPSMIKVVPAYVPTPIHPI	AAPTPAPPSMIKIVPAYVPTPIHPI	9.0	1.0	unscreened	-	2369_7:72413581-72413581 G>A_AAPTPAPPSMIKIVPAYVPTPIHPI
19:56029674-56029674 C>T	0.0	2369	MELANOMA	-	-	-	-	SSC5D	NM_001144950,p.S1344F|uc002qlg.4,p.S1344F|ENST00000389623,p.S1344F	retained_intron, protein_coding	uc002qlg.4	nonsynonymous SNV	exon14	c.C4031T	p.S1344F	STPVITTVSLPTSLGTELSSPTLAP	STPVITTVSLPTFLGTELSSPTLAP	3.0	5.0	unscreened	-	2369_19:56029674-56029674 C>T_STPVITTVSLPTFLGTELSSPTLAP
17:16068377-16068377 C>G	1.0	2369	MELANOMA	-	rs1064131	-	1	NCOR1	uc002gpp.1,p.K69N|uc002gpo.3,p.K178N|NM_001190440,p.K178N|uc002gpr.3,p.K69N|ENST00000582357,p.K178N|uc010cpa.2,p.K178N|uc002gpu.3,p.K178N|ENST00000436828,p.K178N|ENST00000411510,p.K178N|ENST00000395851,p.K178N|uc010cpb.2,p.K178N|uc002gpn.3,p.K178N|ENST00000395848,p.K69N|NM_001190438,p.K69N|ENST00000268712,p.K178N|uc002gps.2,p.K178N|NM_006311,p.K178N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cpb.2	nonsynonymous SNV	exon5	c.G534C	p.K178N	GDDQNASPSKLSKEELIQSMDRVDR	GDDQNASPSKLSNEELIQSMDRVDR	8.0	2.0	unscreened	-	2369_17:16068377-16068377 C>G_GDDQNASPSKLSNEELIQSMDRVDR
2:27824259-27824259 C>T	1.0	2369	MELANOMA	-	-	ID=COSM1685872;OCCURENCE=2(skin)	-	ZNF512	uc010ylz.3,p.R102C|uc002rla.4,p.R207C|ENST00000416005,p.R178C|ENST00000556601,p.R76C|ENST00000413371,p.R130C|uc010ylv.3,p.R130C|uc010ylw.3,p.R178C|uc010ylx.3,p.R128C|NM_001271289,p.R102C|ENST00000379717,p.R206C|ENST00000355467,p.R207C|NM_001271288,p.R130C|NM_001271286,p.R178C|NM_032434,p.R207C|uc002rlb.4,p.R130C|NM_001271287,p.R130C|uc002rlc.4,p.R130C|NM_001271318,p.R130C	retained_intron, protein_coding, processed_transcript	uc010ylz.3	nonsynonymous SNV	exon6	c.C304T	p.R102C	EMFTCHHCGKQLRSLAGMKYHVMAN	EMFTCHHCGKQLCSLAGMKYHVMAN	7.0	5.0	-	-	2369_2:27824259-27824259 C>T_EMFTCHHCGKQLCSLAGMKYHVMAN
8:101721812-101721812 G>A	0.0	2369	MELANOMA	-	-	-	2	PABPC1	uc011lhc.1,p.R342C|NM_002568,p.R374C|uc003yjs.1,p.R374C|ENST00000522387,p.R342C|ENST00000318607,p.R374C|uc011lhd.1,p.R329C|uc003yjt.1,p.R371C|ENST00000519004,p.R329C	retained_intron, protein_coding, nonsense_mediated_decay	uc011lhd.1	nonsynonymous SNV	exon9	c.C985T	p.R329C	PLYVALAQRKEERQAHLTNQYMQRM	PLYVALAQRKEECQAHLTNQYMQRM	10.0	1.0	unscreened	-	2369_8:101721812-101721812 G>A_PLYVALAQRKEECQAHLTNQYMQRM
20:1895796-1895796 T>C	0.0	2369	MELANOMA	-	-	-	2	SIRPA	NM_080792,p.L44S|NM_001040023,p.L44S|ENST00000358771,p.L44S|NM_001040022,p.L44S|uc002wft.3,p.L44S|ENST00000356025,p.L44S|uc002wfq.3,p.L44S|uc002wfr.3,p.L44S|uc002wfs.3,p.L44S|ENST00000400068,p.L44S	protein_coding	uc002wft.3	nonsynonymous SNV	exon2	c.T131C	p.L44S	EELQVIQPDKSVLVAAGETATLRCT	EELQVIQPDKSVSVAAGETATLRCT	10.0	1.0	unscreened	-	2369_20:1895796-1895796 T>C_EELQVIQPDKSVSVAAGETATLRCT
8:28210805-28210805 G>A	1.0	2369	MELANOMA	-	-	-	-	ZNF395	NM_018660,p.P235L|ENST00000523202,p.P235L|ENST00000344423,p.P235L|ENST00000523095,p.P235L|uc003xgt.4,p.P235L|uc003xgr.3,p.P235L|uc003xgs.3,p.P235L|uc003xgq.3,p.P235L	retained_intron, protein_coding, processed_transcript	uc003xgt.4	nonsynonymous SNV	exon11	c.C704T	p.P235L	GSSGVSTPSPPHPQASPKYLGDAFG	GSSGVSTPSPPHLQASPKYLGDAFG	6.0	9.0	-	-	2369_8:28210805-28210805 G>A_GSSGVSTPSPPHLQASPKYLGDAFG
16:68104875-68104875 C>T	1.0	2369	MELANOMA	-	-	-	-	DUS2	uc002evj.4,p.S225L|NM_017803,p.S225L|ENST00000432752,p.S190L|uc010vkk.3,p.S190L|uc002evi.4,p.S225L|ENST00000565263,p.S225L|ENST00000358896,p.S225L|NM_001271762,p.S225L|NM_001271763,p.S190L	retained_intron, protein_coding, nonsense_mediated_decay	uc010vkk.3	nonsynonymous SNV	exon10	c.C569T	p.S190L	ANGGSHDHIQQYSDIEDFRQATAAS	ANGGSHDHIQQYLDIEDFRQATAAS	6.0	3.0	-	-	2369_16:68104875-68104875 C>T_ANGGSHDHIQQYLDIEDFRQATAAS
7:71275429-71275429 G>A	0.0	2369	MELANOMA	-	-	ID=COSM159714;OCCURENCE=1(breast)	-	CALN1	ENST00000431984,p.H142Y|ENST00000395275,p.H184Y|NM_001017440,p.H142Y|uc003twb.4,p.H184Y|ENST00000395276,p.H142Y|ENST00000412588,p.H184Y|ENST00000405452,p.H142Y|uc003twc.4,p.H142Y|NM_031468,p.H184Y|ENST00000329008,p.H142Y|uc003twa.4,p.H142Y	protein_coding, nonsense_mediated_decay	uc003twc.4	nonsynonymous SNV	exon6	c.C424T	p.H142Y	RITLEELKHILYHAFRDHLTMKDIE	RITLEELKHILYYAFRDHLTMKDIE	5.0	9.0	unscreened	-	2369_7:71275429-71275429 G>A_RITLEELKHILYYAFRDHLTMKDIE
X:44109654-44109654 G>A	0.0	2369	MELANOMA	-	-	-	-	EFHC2	ENST00000420999,p.S215F|NM_025184,p.S215F|uc004dgb.4,p.S215F	protein_coding	uc004dgb.4	nonsynonymous SNV	exon5	c.C644T	p.S215F	VVEHVEPLRPYESLDTLKQFLQYHG	VVEHVEPLRPYEFLDTLKQFLQYHG	2.0	10.0	unscreened	-	2369_X:44109654-44109654 G>A_VVEHVEPLRPYEFLDTLKQFLQYHG
17:18023334-18023334 C>T	0.0	2369	MELANOMA	-	-	-	-	MYO15A	ENST00000205890,p.S407L|NM_016239,p.S407L|uc021trm.1,p.S407L|uc021trl.1,p.S407L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021trm.1	nonsynonymous SNV	exon1	c.C1220T	p.S407L	PEVPYFYPEESASAFVYPWVPPPIP	PEVPYFYPEESALAFVYPWVPPPIP	3.0	9.0	unscreened	-	2369_17:18023334-18023334 C>T_PEVPYFYPEESALAFVYPWVPPPIP
4:7002892-7002892 G>A	1.0	2369	MELANOMA	-	-	-	-	TBC1D14	NM_001286805,p.R55Q|NM_001113363,p.R115Q|NM_020773,p.R395Q|ENST00000439515,p.R14Q|ENST00000410031,p.R167Q|uc003gjs.4,p.R395Q|uc010idh.3,p.R115Q|uc011bwg.2,p.R395Q|ENST00000448507,p.R395Q|NM_001113361,p.R395Q|ENST00000409757,p.R395Q|ENST00000451522,p.R115Q	retained_intron, protein_coding	uc011bwg.2	nonsynonymous SNV	exon7	c.G1184A	p.R395Q	PNWETMWCSRKVRDLWWQGIPPSVR	PNWETMWCSRKVQDLWWQGIPPSVR	10.0	8.0	unscreened	-	2369_4:7002892-7002892 G>A_PNWETMWCSRKVQDLWWQGIPPSVR
17:60030346-60030346 G>A	1.0	2369	MELANOMA	-	-	-	-	MED13	NM_005121,p.H2033Y|ENST00000397786,p.H2033Y|uc002izo.3,p.H2033Y	retained_intron, protein_coding, processed_transcript	uc002izo.3	nonsynonymous SNV	exon27	c.C6097T	p.H2033Y	GSPVHSPGSHYPHGGDAGKGQSTDR	GSPVHSPGSHYPYGGDAGKGQSTDR	7.0	8.0	-	-	2369_17:60030346-60030346 G>A_GSPVHSPGSHYPYGGDAGKGQSTDR
16:67268338-67268338 C>T	1.0	2369	MELANOMA	0.0009	-	-	-	FHOD1	uc010vjh.1,p.E113K|NM_013241,p.E453K|ENST00000258201,p.E453K|uc010ced.3,p.E260K|uc002esl.3,p.E453K	retained_intron, protein_coding, nonsense_mediated_decay	uc010vjh.1	nonsynonymous SNV	exon12	c.G337A	p.E113K	ARFLENVAAAETEKQVALAQGRAET	ARFLENVAAAETKKQVALAQGRAET	9.0	2.0	unscreened	-	2369_16:67268338-67268338 C>T_ARFLENVAAAETKKQVALAQGRAET
5:132096950-132096950 C>T	1.0	2369	MELANOMA	-	-	-	-	SEPT8	uc003kxr.2,p.E324K|ENST00000378699,p.E264K|NM_015146,p.E324K|ENST00000296873,p.E324K|ENST00000378719,p.E324K|ENST00000378706,p.E324K|ENST00000458488,p.E324K|NM_001098812,p.E324K|NM_001098813,p.E264K|uc003kxv.2,p.E322K|NM_001300799,p.E322K|uc003kxs.1,p.E324K|NM_001098811,p.E324K|ENST00000378721,p.E322K|uc003kxt.2,p.E264K|ENST00000448933,p.E264K|ENST00000378701,p.E322K|uc011cxi.1,p.E322K|uc003kxu.2,p.E324K|NM_001300798,p.E322K	retained_intron, protein_coding, processed_transcript	uc011cxi.1	nonsynonymous SNV	exon8	c.G964A	p.E322K	DSDGDSQPFSLQETYEAKRKEFLSE	DSDGDSQPFSLQKTYEAKRKEFLSE	8.0	10.0	-	-	2369_5:132096950-132096950 C>T_DSDGDSQPFSLQKTYEAKRKEFLSE
9:125140199-125140199 C>T	0.0	2369	MELANOMA	-	-	-	-	PTGS1	NM_001271368,p.P14L|uc011lys.2,p.P14L|ENST00000540753,p.P14L	protein_coding	uc011lys.2	nonsynonymous SNV	exon4	c.C41T	p.P14L	RKPRLMNPCCYYPCQHQGICVRFGL	RKPRLMNPCCYYLCQHQGICVRFGL	4.0	5.0	unscreened	-	2369_9:125140199-125140199 C>T_RKPRLMNPCCYYLCQHQGICVRFGL
12:110824257-110824257 G>A	1.0	2369	MELANOMA	-	-	-	-	ANAPC7	ENST00000455511,p.S265F|NM_016238,p.S265F|ENST00000450008,p.S265F|uc001tqo.2,p.S265F|uc001tqp.4,p.S265F|NM_001137664,p.S265F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001tqp.4	nonsynonymous SNV	exon6	c.C794T	p.S265F	RAISTICSLEKKSLLRDNVDLLGSL	RAISTICSLEKKFLLRDNVDLLGSL	9.0	3.0	unscreened	-	2369_12:110824257-110824257 G>A_RAISTICSLEKKFLLRDNVDLLGSL
4:160253653-160253653 C>T	1.0	2369	MELANOMA	-	-	-	-	RAPGEF2	ENST00000264431,p.P486S|uc003iqg.4,p.P486S|NM_014247,p.P486S	retained_intron, protein_coding, processed_transcript	uc003iqg.4	nonsynonymous SNV	exon11	c.C1456T	p.P486S	LTRLSEEKRNGAPHLPKIGDIKKAS	LTRLSEEKRNGASHLPKIGDIKKAS	9.0	9.0	-	-	2369_4:160253653-160253653 C>T_LTRLSEEKRNGASHLPKIGDIKKAS
6:80737616-80737616 T>C	1.0	2369	MELANOMA	-	-	-	-	TTK	ENST00000230510,p.V469A|NM_003318,p.V470A|uc003pjc.3,p.V470A|ENST00000509894,p.V469A|ENST00000369798,p.V470A|uc003pjb.4,p.V469A|NM_001166691,p.V469A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pjc.3	nonsynonymous SNV	exon13	c.T1409C	p.V470A	TLDDYMSCFRTPVVKNDFPPACQLS	TLDDYMSCFRTPAVKNDFPPACQLS	6.0	3.0	unscreened	-	2369_6:80737616-80737616 T>C_TLDDYMSCFRTPAVKNDFPPACQLS
5:140580834-140580834 T>C	0.0	2369	MELANOMA	-	-	-	-	PCDHB11	ENST00000354757,p.L496P|uc003liy.3,p.L496P|NM_018931,p.L496P|ENST00000536699,p.L131P	protein_coding	uc003liy.3	nonsynonymous SNV	exon1	c.T1487C	p.L496P	AQVNYSLLPPQDLHLPLASLVSINT	AQVNYSLLPPQDPHLPLASLVSINT	5.0	1.0	unscreened	-	2369_5:140580834-140580834 T>C_AQVNYSLLPPQDPHLPLASLVSINT
14:19378189-19378189 G>T	0.0	2369	MELANOMA	-	rs2212201	-	-	OR11H12	uc010tkp.2,p.R199L|ENST00000550708,p.R199L|NM_001013354,p.R199L	protein_coding	uc010tkp.2	nonsynonymous SNV	exon1	c.G596T	p.R199L	NIIDHVVCDPGPRFALDCVSAPRIQ	NIIDHVVCDPGPLFALDCVSAPRIQ	1.0	2.0	unscreened	-	2369_14:19378189-19378189 G>T_NIIDHVVCDPGPLFALDCVSAPRIQ
22:37395911-37395911 C>T	0.0	2369	MELANOMA	-	-	-	-	TEX33	uc003aqf.3,p.G202S|ENST00000402860,p.G117S|NM_178552,p.G117S|ENST00000405091,p.G202S|uc003aqe.3,p.G117S|ENST00000381821,p.G202S|NM_001163857,p.G202S	protein_coding	uc003aqf.3	nonsynonymous SNV	exon4	c.G604A	p.G202S	EISSVFSDYYDLGYNMRSNLFRGAA	EISSVFSDYYDLSYNMRSNLFRGAA	1.0	7.0	unscreened	-	2369_22:37395911-37395911 C>T_EISSVFSDYYDLSYNMRSNLFRGAA
11:3723826-3723826 G>A	1.0	2369	MELANOMA	-	-	-	1	NUP98	uc001lyh.3,p.R1127C|uc001lyi.3,p.R1127C|NM_016320,p.R1127C|ENST00000359171,p.R1127C|ENST00000324932,p.R1127C|ENST00000355260,p.R1127C|NM_139132,p.R1127C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001lyi.3	nonsynonymous SNV	exon23	c.C3379T	p.R1127C	LMDMALFMGRSFRVGWGPNWTLANS	LMDMALFMGRSFCVGWGPNWTLANS	9.0	9.0	-	-	2369_11:3723826-3723826 G>A_LMDMALFMGRSFCVGWGPNWTLANS
16:25137385-25137385 G>A	0.0	2369	MELANOMA	-	rs61748665	-	-	LCMT1	uc002dnw.2,p.V72I|ENST00000380962,p.V72I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dnw.2	nonsynonymous SNV	exon2	c.G214A	p.V72I	FHLGHSDRLDSEVLLPRAHGNLLQS	FHLGHSDRLDSEILLPRAHGNLLQS	9.0	2.0	unscreened	-	2369_16:25137385-25137385 G>A_FHLGHSDRLDSEILLPRAHGNLLQS
12:41422970-41422970 C>T	1.0	2369	MELANOMA	-	-	-	-	CNTN1	NM_175038,p.R966C|ENST00000548481,p.R19C|ENST00000347616,p.R977C|uc031qgz.1,p.R966C|ENST00000551295,p.R977C|uc001rmm.2,p.R977C|NM_001843,p.R977C|ENST00000348761,p.R966C	protein_coding, processed_transcript, nonsense_mediated_decay	uc031qgz.1	nonsynonymous SNV	exon21	c.C2896T	p.R966C	PIPRDGEYVVEVRAHSDGGDGVVSQ	PIPRDGEYVVEVCAHSDGGDGVVSQ	7.0	3.0	-	-	2369_12:41422970-41422970 C>T_PIPRDGEYVVEVCAHSDGGDGVVSQ
16:74670381-74670381 C>T	1.0	2369	MELANOMA	-	-	-	-	RFWD3	NM_018124,p.G430D|uc002fda.3,p.G430D|ENST00000571750,p.G430D|uc010cgq.3,p.G430D|ENST00000361070,p.G430D	retained_intron, protein_coding	uc010cgq.3	nonsynonymous SNV	exon9	c.G1289A	p.G430D	QAWVLSCSPSSQGQHKHKYHFQKTF	QAWVLSCSPSSQDQHKHKYHFQKTF	8.0	9.0	-	-	2369_16:74670381-74670381 C>T_QAWVLSCSPSSQDQHKHKYHFQKTF
13:20066994-20066994 T>C	0.0	2369	MELANOMA	-	rs78472618	-	-	TPTE2	ENST00000462409,p.K39E	protein_coding, nonsense_mediated_decay	ENST00000462409	nonsynonymous SNV	exon3	c.A115G	p.K39E	EFKGAALVSPISKRWTHLVRLLRLI	EFKGAALVSPISERWTHLVRLLRLI	2.0	1.0	unscreened	-	2369_13:20066994-20066994 T>C_EFKGAALVSPISERWTHLVRLLRLI
17:28849365-28849365 C>T	1.0	2369	MELANOMA	-	-	-	-	GOSR1	NM_001007024,p.T176I|ENST00000451249,p.T239I|uc002hfd.3,p.T239I|uc002hfe.3,p.T241I|ENST00000581721,p.T227I|NM_001007025,p.T239I|NM_004871,p.T241I|ENST00000225724,p.T241I|uc002hff.3,p.T176I|ENST00000467337,p.T176I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002hff.3	nonsynonymous SNV	exon9	c.C527T	p.T176I	DSLILGGVIGICTILLLLYAFH	DSLILGGVIGICIILLLLYAFH	8.0	8.0	-	-	2369_17:28849365-28849365 C>T_DSLILGGVIGICIILLLLYAFH
15:38786788-38786788 C>T	1.0	2369	MELANOMA	-	-	-	-	RASGRP1	uc001zke.4,p.G685D|uc001zkd.4,p.G650D|ENST00000310803,p.G685D|NM_005739,p.G685D|NM_001128602,p.G650D|ENST00000539159,p.G637D|ENST00000450598,p.G650D|ENST00000561180,p.G736D|ENST00000558432,p.G699D	protein_coding, nonsense_mediated_decay	uc001zke.4	nonsynonymous SNV	exon16	c.G2054A	p.G685D	TQTESQPWIGSEGPSGPFVLSSPRK	TQTESQPWIGSEDPSGPFVLSSPRK	6.0	5.0	-	-	2369_15:38786788-38786788 C>T_TQTESQPWIGSEDPSGPFVLSSPRK
8:125551250-125551269 AAAACGCTCCTCTTACCGAT>-	0.0	2369	MELANOMA	-	-	-	-	TATDN1	ENST00000522927,p.I7fs|ENST00000520321,p.I7fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000522927	frameshift deletion	exon1	c.19_22del	p.I7fs	MSRFKFIDDLQDVIGRAVE	MSRFKFMTYRM	9.0	2.0	unscreened	-	2369_8:125551250-125551269 AAAACGCTCCTCTTACCGAT>-_MSRFKFMTYRM
17:36628191-36628191 G>A	0.0	2369	MELANOMA	-	rs199655106	ID=COSM399742;OCCURENCE=1(lung)	-	ARHGAP23	ENST00000443378,p.D594N|ENST00000431231,p.D688N|ENST00000548333,p.D68N|NM_001199417,p.D688N|uc021twd.1,p.D688N|ENST00000437668,p.D688N|uc002hqc.3,p.D482N|uc021twe.1,p.D594N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021twe.1	nonsynonymous SNV	exon10	c.G1780A	p.D594N	HSTSDLSDATFSDIRREGWLYYKQI	HSTSDLSDATFSNIRREGWLYYKQI	4.0	1.0	unscreened	-	2369_17:36628191-36628191 G>A_HSTSDLSDATFSNIRREGWLYYKQI
18:14803773-14803773 C>T	1.0	2369	MELANOMA	-	-	-	-	ANKRD30B	ENST00000358984,p.P745L|uc021uhy.1,p.P745L|uc010dlo.2,p.P745L|NM_001145029,p.P745L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021uhy.1	nonsynonymous SNV	exon24	c.C2234T	p.P745L	FLETLLQNDVCLPKATHQKEFDTLS	FLETLLQNDVCLLKATHQKEFDTLS	7.0	3.0	unscreened	-	2369_18:14803773-14803773 C>T_FLETLLQNDVCLLKATHQKEFDTLS
19:5700823-5700823 C>T	1.0	2369	MELANOMA	-	-	-	-	LONP1	NM_001276479,p.E431K|NM_001276480,p.E299K|ENST00000593119,p.E431K|uc002mcz.3,p.E299K|ENST00000360614,p.E495K|uc010duh.4,p.E236K|uc031riz.1,p.E365K|uc002mcy.3,p.E431K|ENST00000540670,p.E299K|NM_004793,p.E495K|ENST00000585374,p.E381K|ENST00000590729,p.E365K|uc002mcx.4,p.E495K|uc031rja.1,p.E429K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rja.1	nonsynonymous SNV	exon10	c.G1285A	p.E429K	AQAVLEEDHYGMEDVKKRILEFIAV	AQAVLEEDHYGMKDVKKRILEFIAV	9.0	10.0	unscreened	-	2369_19:5700823-5700823 C>T_AQAVLEEDHYGMKDVKKRILEFIAV
9:138379154-138379154 G>A	1.0	2369	MELANOMA	-	-	-	-	PPP1R26	uc022bpi.1,p.R933Q|ENST00000356818,p.R933Q|uc004cfr.1,p.R933Q|NM_014811,p.R933Q|ENST00000604351,p.R933Q|ENST00000401470,p.R933Q|ENST00000605286,p.R933Q|ENST00000605660,p.R933Q	protein_coding	uc022bpi.1	nonsynonymous SNV	exon1	c.G2798A	p.R933Q	SQGGKGLPAAPARGDPVPPRSTSGG	SQGGKGLPAAPAQGDPVPPRSTSGG	7.0	7.0	unscreened	-	2369_9:138379154-138379154 G>A_SQGGKGLPAAPAQGDPVPPRSTSGG
11:30557591-30557591 ->AATCGGTGT	0.0	2369	MELANOMA	-	-	-	-	MPPED2	ENST00000526437,p.F87delinsYTDF|uc001msr.3,p.F87delinsYTDF|ENST00000448418,p.F87delinsYTDF|NM_001145399,p.F87delinsYTDF|NM_001584,p.F87delinsYTDF|uc001msq.3,p.F87delinsYTDF|ENST00000358117,p.F87delinsYTDF	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001msr.3	nonframeshift insertion	exon2	c.259_260insACACCGATT	p.F87delinsYTDF	MPYGDILLHTGDFTELGLPSEVKKF	MPYGDILLHTGDYTDFTELGLPSEV	5.0	3.0	unscreened	-	2369_11:30557591-30557591 ->AATCGGTGT_MPYGDILLHTGDYTDFTELGLPSEV
16:7680610-7680610 G>A	0.0	2369	MELANOMA	-	-	-	-	RBFOX1	uc002cyx.2,p.V248I|ENST00000311745,p.V248I|ENST00000340209,p.V233I|ENST00000552089,p.V245I|ENST00000422070,p.V271I|uc002cys.2,p.V228I|NM_145892,p.V248I|ENST00000535565,p.V185I|ENST00000547372,p.V271I|uc002cyr.1,p.V227I|uc010buf.1,p.V228I|uc010uyb.1,p.V228I|ENST00000551752,p.V228I|ENST00000547605,p.V227I|NM_001142334,p.V228I|ENST00000436368,p.V248I|ENST00000547338,p.V228I|NM_145893,p.V248I|NM_145891,p.V248I|uc010uxz.1,p.V271I|ENST00000550418,p.V228I|ENST00000355637,p.V248I|uc002cyv.1,p.V228I|NM_018723,p.V228I|uc002cyy.2,p.V248I|uc002cyw.2,p.V248I|uc010uya.1,p.V185I	retained_intron, protein_coding, processed_transcript	uc010uyb.1	nonsynonymous SNV	exon9	c.G682A	p.V228I	GAVYSPEFYAGTVLLCQANQEGSSM	GAVYSPEFYAGTILLCQANQEGSSM	1.0	2.0	unscreened	-	2369_16:7680610-7680610 G>A_GAVYSPEFYAGTILLCQANQEGSSM
18:55364850-55364850 C>T	1.0	2369	MELANOMA	-	-	-	-	ATP8B1	ENST00000536015,p.G233E|uc002lgw.3,p.G233E|NM_005603,p.G233E|ENST00000283684,p.G233E	protein_coding, processed_transcript, nonsense_mediated_decay	uc002lgw.3	nonsynonymous SNV	exon8	c.G698A	p.G233E	NSLCYVETAELDGETNLKFKMSLEI	NSLCYVETAELDEETNLKFKMSLEI	6.0	4.0	-	-	2369_18:55364850-55364850 C>T_NSLCYVETAELDEETNLKFKMSLEI
4:94547532-94547532 G>A	0.0	2369	MELANOMA	-	-	-	-	GRID2	NM_001510,p.G769E|uc011cdu.2,p.G674E|uc011cdt.2,p.G769E|ENST00000510992,p.G674E|NM_001286838,p.G674E|ENST00000282020,p.G769E	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cdu.2	nonsynonymous SNV	exon13	c.G2021A	p.G674E	SFYTIGNTVADRGYGIALQHGSPYR	SFYTIGNTVADREYGIALQHGSPYR	1.0	9.0	unscreened	-	2369_4:94547532-94547532 G>A_SFYTIGNTVADREYGIALQHGSPYR
6:90481335-90481335 G>A	1.0	2369	MELANOMA	-	-	-	-	MDN1	ENST00000428876,p.R697C|uc003pnn.1,p.R697C|ENST00000439638,p.R624C|ENST00000369393,p.R697C|uc003pno.1,p.R115C|NM_014611,p.R697C	protein_coding, processed_transcript, nonsense_mediated_decay	uc003pno.1	nonsynonymous SNV	exon7	c.C343T	p.R115C	STIQYLAHITGHRLRVVNMNQQSDT	STIQYLAHITGHCLRVVNMNQQSDT	8.0	2.0	unscreened	-	2369_6:90481335-90481335 G>A_STIQYLAHITGHCLRVVNMNQQSDT
19:40902369-40902369 C>G	0.0	2369	MELANOMA	-	-	-	-	PRX	uc002onr.3,p.K630N|ENST00000324001,p.K630N|uc002onq.3,p.K491N|NM_181882,p.K630N	protein_coding, processed_transcript	uc002onr.3	nonsynonymous SNV	exon7	c.G1890C	p.K630N	LPEVQLPKVPEMKLPEMKLPEVKLP	LPEVQLPKVPEMNLPEMKLPEVKLP	4.0	1.0	unscreened	-	2369_19:40902369-40902369 C>G_LPEVQLPKVPEMNLPEMKLPEVKLP
1:38227248-38227248 C>T	0.0	2369	MELANOMA	-	-	-	-	EPHA10	NM_173641,p.E227K|ENST00000319637,p.E227K|ENST00000427468,p.E227K|uc001cbw.4,p.E227K|uc009vvi.3,p.E227K|ENST00000373048,p.E227K|NM_001099439,p.E227K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009vvi.3	nonsynonymous SNV	exon3	c.G679A	p.E227K	VRGLATFPATAAESAFSTLVEVAGT	VRGLATFPATAAKSAFSTLVEVAGT	1.0	10.0	unscreened	-	2369_1:38227248-38227248 C>T_VRGLATFPATAAKSAFSTLVEVAGT
14:94707109-94707109 G>A	1.0	2369	MELANOMA	-	-	-	-	PPP4R4	uc001ycs.1,p.G318E|ENST00000304338,p.G318E|NM_058237,p.G318E	protein_coding, processed_transcript	uc001ycs.1	nonsynonymous SNV	exon9	c.G953A	p.G318E	DESILISLSFHLGKLCHGLYGIFTP	DESILISLSFHLEKLCHGLYGIFTP	4.0	8.0	-	-	2369_14:94707109-94707109 G>A_DESILISLSFHLEKLCHGLYGIFTP
1:223402655-223402655 C>T	0.0	2369	MELANOMA	-	-	-	-	SUSD4	ENST00000343846,p.G267E|uc001hnx.3,p.G267E|uc010puw.2,p.G107E|uc001hny.4,p.G267E|NM_017982,p.G267E|ENST00000366878,p.G267E|ENST00000454695,p.G107E	protein_coding, processed_transcript	uc010puw.2	nonsynonymous SNV	exon7	c.G320A	p.G107E	VCHPRPCERYNHGTVVEFYCDPGYS	VCHPRPCERYNHETVVEFYCDPGYS	1.0	6.0	unscreened	-	2369_1:223402655-223402655 C>T_VCHPRPCERYNHETVVEFYCDPGYS
1:24484066-24484066 G>A	1.0	2369	MELANOMA	-	-	-	-	IFNLR1	uc001bis.3,p.P373S|uc001bir.3,p.P344S|ENST00000374421,p.P344S|uc001biu.3,p.P289S|NM_173064,p.P344S|ENST00000327535,p.P373S|NM_170743,p.P373S	protein_coding	uc001biu.3	nonsynonymous SNV	exon6	c.C865T	p.P289S	EAGGVDSGRPRAPLVPSEGSSAWDS	EAGGVDSGRPRASLVPSEGSSAWDS	4.0	10.0	unscreened	-	2369_1:24484066-24484066 G>A_EAGGVDSGRPRASLVPSEGSSAWDS
14:19378030-19378030 T>A	0.0	2369	MELANOMA	-	rs1830970	-	-	OR11H12	ENST00000550708,p.L146H|uc010tkp.2,p.L146H|NM_001013354,p.L146H	protein_coding	uc010tkp.2	nonsynonymous SNV	exon1	c.T437A	p.L146H	AFDQYLAICRPLLYPNIMTGHLCAK	AFDQYLAICRPLHYPNIMTGHLCAK	1.0	2.0	unscreened	-	2369_14:19378030-19378030 T>A_AFDQYLAICRPLHYPNIMTGHLCAK
5:180687037-180687042 CGCTGT>-	0.0	2369	MELANOMA	-	-	-	-	TRIM52	uc003mnp.3,p.258_260del|NM_032765,p.258_260del|ENST00000327767,p.258_260del	protein_coding, processed_transcript	uc003mnp.3	nonframeshift deletion	exon1	c.773_778del	p.258_260del	CVVCRESRSHKQHSVLPLEEVVQEY	CVVCRESRSHKQLLPLEEVVQEYQE	6.0	10.0	unscreened	-	2369_5:180687037-180687042 CGCTGT>-_CVVCRESRSHKQLLPLEEVVQEYQE
3:120413022-120413022 T>G	1.0	2369	MELANOMA	-	-	-	-	RABL3	ENST00000273375,p.K195T|uc003edx.3,p.K195T|NM_173825,p.K195T	protein_coding, processed_transcript, nonsense_mediated_decay	uc003edx.3	nonsynonymous SNV	exon6	c.A584C	p.K195T	PRYLAAGSSNAVKLSRFFDKVIEKR	PRYLAAGSSNAVTLSRFFDKVIEKR	7.0	5.0	-	-	2369_3:120413022-120413022 T>G_PRYLAAGSSNAVTLSRFFDKVIEKR
5:64587283-64587283 G>A	1.0	2369	MELANOMA	-	-	-	-	ADAMTS6	ENST00000464680,p.T462I|ENST00000381055,p.T462I|uc003jtp.3,p.T462I|uc003jtr.1,p.T83I|NM_197941,p.T462I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jtr.1	nonsynonymous SNV	exon10	c.C248T	p.T83I	DYITSFLDSGRGTCLDNEPPKRDFL	DYITSFLDSGRGICLDNEPPKRDFL	4.0	10.0	unscreened	-	2369_5:64587283-64587283 G>A_DYITSFLDSGRGICLDNEPPKRDFL
1:92642816-92642816 C>T	1.0	2369	MELANOMA	-	-	-	-	KIAA1107	ENST00000409154,p.S306L|ENST00000370378,p.S251L|uc001dop.3,p.S176L|uc010otd.2,p.S251L|NM_015237,p.S251L	protein_coding	uc010otd.2	nonsynonymous SNV	exon5	c.C752T	p.S251L	NGKGVRNQEGQISGARPKVLTGNLN	NGKGVRNQEGQILGARPKVLTGNLN	4.0	10.0	unscreened	-	2369_1:92642816-92642816 C>T_NGKGVRNQEGQILGARPKVLTGNLN
12:21200082-21200082 C>T	0.0	2369	MELANOMA	-	-	-	-	SLCO1B7	NM_001009562,p.L309F|uc010sin.2,p.L309F|uc010sim.2,p.L356F|ENST00000554957,p.L356F|ENST00000381541,p.L356F|ENST00000421593,p.L309F	 processed_transcript,protein_coding	uc010sin.2	nonsynonymous SNV	exon7	c.C925T	p.L309F	FTLLHMSSYIASLTYIIKMVEQQYG	FTLLHMSSYIASFTYIIKMVEQQYG	1.0	8.0	unscreened	-	2369_12:21200082-21200082 C>T_FTLLHMSSYIASFTYIIKMVEQQYG
11:51515852-51515852 C>T	0.0	2369	MELANOMA	-	-	-	-	OR4C46	ENST00000328188,p.H191Y|uc010ric.2,p.H191Y|NM_001004703,p.H191Y	protein_coding	uc010ric.2	nonsynonymous SNV	exon1	c.C571T	p.H191Y	LNPLLNLACTDTHMLELFIAANSGF	LNPLLNLACTDTYMLELFIAANSGF	1.0	9.0	unscreened	-	2369_11:51515852-51515852 C>T_LNPLLNLACTDTYMLELFIAANSGF
22:38122090-38122090 C>T	0.0	2369	MELANOMA	-	-	-	-	TRIOBP	uc003atq.1,p.S1176F|uc003ats.1,p.S1004F|NM_001039141,p.S1176F|uc003atu.3,p.S1004F|ENST00000406386,p.S1176F|uc003atr.3,p.S1176F	retained_intron, protein_coding, nonsense_mediated_decay	uc003atu.3	nonsynonymous SNV	exon5	c.C3011T	p.S1004F	VCIGHRDAPSFSSPPRQAPEPSLFF	VCIGHRDAPSFSFPPRQAPEPSLFF	8.0	8.0	-	-	2369_22:38122090-38122090 C>T_VCIGHRDAPSFSFPPRQAPEPSLFF
6:29455372-29455372 C>T	0.0	2369	MELANOMA	-	-	-	-	MAS1L	uc011dlq.2,p.G103E|ENST00000377127,p.G103E|NM_052967,p.G103E	protein_coding	uc011dlq.2	nonsynonymous SNV	exon1	c.G308A	p.G103E	LLNGTVFWLLCCGATNPYMVYILHL	LLNGTVFWLLCCEATNPYMVYILHL	1.0	3.0	unscreened	-	2369_6:29455372-29455372 C>T_LLNGTVFWLLCCEATNPYMVYILHL
6:70944603-70944603 C>T	1.0	2369	MELANOMA	-	-	-	-	COL9A1	uc003pff.4,p.G475E|ENST00000320755,p.G475E|uc003pfe.4,p.G267E|ENST00000357250,p.G718E|NM_078485,p.G475E|uc003pfg.4,p.G718E|ENST00000370499,p.G475E|NM_001851,p.G718E	retained_intron, protein_coding, processed_transcript	uc003pfg.4	nonsynonymous SNV	exon34	c.G2153A	p.G718E	GNPGEPGLRGPEGSRGLPGVEGPRG	GNPGEPGLRGPEESRGLPGVEGPRG	7.0	9.0	-	-	2369_6:70944603-70944603 C>T_GNPGEPGLRGPEESRGLPGVEGPRG
7:141954944-141954944 G>A	0.0	2369	MELANOMA	-	-	-	-	PRSS58	ENST00000552471,p.P123S|ENST00000547058,p.P123S|uc003vxb.3,p.P123S|uc003vxc.4,p.P123S|NM_001001317,p.P123S	protein_coding	uc003vxc.4	nonsynonymous SNV	exon4	c.C367T	p.P123S	AELNDYVKLANLPYQTISENTMCSV	AELNDYVKLANLSYQTISENTMCSV	1.0	8.0	unscreened	-	2369_7:141954944-141954944 G>A_AELNDYVKLANLSYQTISENTMCSV
3:100537370-100537370 C>T	0.0	2369	MELANOMA	-	-	-	-	ABI3BP	uc011bhd.2,p.M313I|ENST00000495063,p.M949I|uc003duo.2,p.M942I|ENST00000383691,p.M313I|ENST00000471714,p.M1036I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bhd.2	nonsynonymous SNV	exon20	c.G939A	p.M313I	EPGTLRTEAPKTMVVTTVLEPDTFR	EPGTLRTEAPKTIVVTTVLEPDTFR	1.0	6.0	unscreened	-	2369_3:100537370-100537370 C>T_EPGTLRTEAPKTIVVTTVLEPDTFR
17:2901638-2901638 G>A	1.0	2369	MELANOMA	-	-	-	-	RAP1GAP2	NM_001100398,p.E375K|uc010cke.3,p.E375K|ENST00000366401,p.E375K|uc010ckd.3,p.E390K|ENST00000254695,p.E390K|ENST00000542807,p.E390K|ENST00000540393,p.E371K|NM_015085,p.E390K	retained_intron, protein_coding, processed_transcript	uc010cke.3	nonsynonymous SNV	exon13	c.G1123A	p.E375K	SNFLHAYIVVQVETPGTETPSYKVS	SNFLHAYIVVQVKTPGTETPSYKVS	5.0	4.0	-	-	2369_17:2901638-2901638 G>A_SNFLHAYIVVQVKTPGTETPSYKVS
20:29625928-29625928 G>A	0.0	2369	MELANOMA	-	-	-	-	FRG1B	ENST00000439954,p.V63I|ENST00000278882,p.V58I|uc010ztl.1,p.V28I|ENST00000358464,p.V58I	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ztl.1	nonsynonymous SNV	exon2	c.G82A	p.V28I	YGKYLGINSDELVGHSDAIGPREQW	YGKYLGINSDELIGHSDAIGPREQW	10.0	1.0	unscreened	-	2369_20:29625928-29625928 G>A_YGKYLGINSDELIGHSDAIGPREQW
16:70894090-70894090 G>A	0.0	2369	MELANOMA	-	-	-	-	HYDIN	uc031qwy.1,p.P4004S|ENST00000393567,p.P4004S|NM_001270974,p.P4004S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon71	c.C12010T	p.P4004S	GGKNLRTFTILNPTNSTYSFCWISE	GGKNLRTFTILNSTNSTYSFCWISE	4.0	9.0	unscreened	-	2369_16:70894090-70894090 G>A_GGKNLRTFTILNSTNSTYSFCWISE
19:23542364-23542364 A>C	1.0	2369	MELANOMA	-	-	-	-	ZNF91	uc002nre.3,p.C1139W|uc010xrj.2,p.C1107W|ENST00000397082,p.C1107W|NM_003430,p.C1139W|ENST00000300619,p.C1139W|NM_001300951,p.C1107W	retained_intron, protein_coding, processed_transcript	uc010xrj.2	nonsynonymous SNV	exon3	c.T3321G	p.C1107W	IHTGEKPYKCEKCGKAFNQSSILTN	IHTGEKPYKCEKWGKAFNQSSILTN	7.0	3.0	unscreened	-	2369_19:23542364-23542364 A>C_IHTGEKPYKCEKWGKAFNQSSILTN
19:1005361-1005361 A>G	0.0	2369	MELANOMA	-	-	-	-	GRIN3B	uc002lqo.1,p.N621D|NM_138690,p.N621D|ENST00000234389,p.N621D	protein_coding, processed_transcript	uc002lqo.1	nonsynonymous SNV	exon3	c.A1861G	p.N621D	NRSTVFSYSSALNLCYAILFRRTVS	NRSTVFSYSSALDLCYAILFRRTVS	2.0	4.0	unscreened	-	2369_19:1005361-1005361 A>G_NRSTVFSYSSALDLCYAILFRRTVS
8:144994112-144994112 C>T	1.0	2369	MELANOMA	-	-	-	-	PLEC	uc003zag.1,p.E3271K|ENST00000354589,p.E3293K|NM_201383,p.E3297K|ENST00000356346,p.E3279K|uc003zab.1,p.E3293K|uc003zac.1,p.E3297K|ENST00000354958,p.E3271K|NM_201384,p.E3293K|NM_201380,p.E3430K|uc003zad.2,p.E3293K|NM_201379,p.E3271K|ENST00000345136,p.E3293K|uc003zae.1,p.E3261K|uc003zaj.2,p.E3320K|uc003zah.2,p.E3279K|NM_201382,p.E3293K|uc003zaf.1,p.E3430K|NM_201381,p.E3261K|ENST00000436759,p.E3320K|ENST00000527096,p.E3316K|ENST00000398774,p.E3261K|ENST00000322810,p.E3430K|NM_201378,p.E3279K|NM_000445,p.E3320K|ENST00000357649,p.E3297K	retained_intron, protein_coding	uc003zaj.2	nonsynonymous SNV	exon33	c.G9958A	p.E3320K	VEKVIKILITIVEEVETLRQERLSF	VEKVIKILITIVKEVETLRQERLSF	8.0	6.0	-	-	2369_8:144994112-144994112 C>T_VEKVIKILITIVKEVETLRQERLSF
15:24922597-24922597 C>T	0.0	2369	MELANOMA	-	-	-	-	NPAP1	NM_018958,p.S528F|uc001ywo.3,p.S528F|ENST00000329468,p.S528F	protein_coding	uc001ywo.3	nonsynonymous SNV	exon1	c.C1583T	p.S528F	PISMCVDSPPPLSFLTLLPVPSTGT	PISMCVDSPPPLFFLTLLPVPSTGT	1.0	4.0	unscreened	-	2369_15:24922597-24922597 C>T_PISMCVDSPPPLFFLTLLPVPSTGT
13:20066994-20066994 T>C	0.0	2369	MELANOMA	-	rs78472618	-	-	TPTE2	ENST00000255310,p.K39E|uc001ume.3,p.K39E|NM_130785,p.K39E|ENST00000390680,p.K39E	protein_coding, nonsense_mediated_decay	uc001ume.3	nonsynonymous SNV	exon4	c.A115G	p.K39E	EFKGAALVSPISKRIFGVFLVLLDV	EFKGAALVSPISERIFGVFLVLLDV	2.0	1.0	unscreened	-	2369_13:20066994-20066994 T>C_EFKGAALVSPISERIFGVFLVLLDV
7:144096152-144096152 G>A	0.0	2369	MELANOMA	-	-	-	-	NOBOX	ENST00000483238,p.P422S|NM_001080413,p.P454S|uc022aoj.1,p.P454S|ENST00000467773,p.P454S|ENST00000223140,p.P337S	protein_coding	uc022aoj.1	nonsynonymous SNV	exon8	c.C1360T	p.P454S	LFSPPPVRRADLPFPLGPVHTPQLM	LFSPPPVRRADLSFPLGPVHTPQLM	1.0	8.0	unscreened	-	2369_7:144096152-144096152 G>A_LFSPPPVRRADLSFPLGPVHTPQLM
6:69348818-69348818 C>T	0.0	2369	MELANOMA	-	-	-	-	BAI3	uc010kak.3,p.S84L|ENST00000370598,p.S84L|uc003pev.4,p.S84L|NM_001704,p.S84L	protein_coding	uc010kak.3	nonsynonymous SNV	exon2	c.C251T	p.S84L	KFSKKDLSCSNFSLLAYQFDHFSHE	KFSKKDLSCSNFLLLAYQFDHFSHE	3.0	4.0	unscreened	-	2369_6:69348818-69348818 C>T_KFSKKDLSCSNFLLLAYQFDHFSHE
22:16449784-16449784 C>A	0.0	2369	MELANOMA	-	rs200562384	-	-	OR11H1	uc011agd.2,p.Q7H|NM_001005239,p.Q7H|ENST00000252835,p.Q7H	protein_coding	uc011agd.2	nonsynonymous SNV	exon1	c.G21T	p.Q7H	MCPLTLQVTGLMNVSEPNS	MCPLTLHVTGLMNVSEPNS	1.0	1.0	unscreened	-	2369_22:16449784-16449784 C>A_MCPLTLHVTGLMNVSEPNS
7:107688510-107688510 C>T	0.0	2369	MELANOMA	-	-	-	-	LAMB4	uc010ljo.1,p.G1390D|NM_007356,p.G1390D|ENST00000205386,p.G1390D|ENST00000388780,p.G1390D|uc010ljp.1,p.G359D|uc003vey.2,p.G1390D|ENST00000422975,p.G416D|ENST00000388781,p.G1390D	retained_intron, protein_coding, processed_transcript	uc010ljp.1	nonsynonymous SNV	exon7	c.G1076A	p.G359D	DPGNVPCVPLPCGGALCTGRKGHRK	DPGNVPCVPLPCDGALCTGRKGHRK	1.0	7.0	unscreened	-	2369_7:107688510-107688510 C>T_DPGNVPCVPLPCDGALCTGRKGHRK
1:154842200-154842202 GCT>-	0.0	2369	MELANOMA	-	-	ID=COSM1319923;OCCURENCE=1(ovary)	-	KCNN3	NM_002249,p.80_81del|uc009wox.1,p.80_81del|uc001ffp.3,p.80_81del|ENST00000271915,p.80_81del|NM_001204087,p.80_81del|uc021pah.1,p.80_81del	protein_coding	uc021pah.1	nonframeshift deletion	exon1	c.239_241del	p.80_81del	QQQQQQQQQQQQQPPHPLSQLAQLQ	QQQQQQQQQQQQPPHPLSQLAQLQS	1.0	1.0	unscreened	-	2369_1:154842200-154842202 GCT>-_QQQQQQQQQQQQPPHPLSQLAQLQS
7:141871136-141871136 C>T	1.0	2369	MELANOMA	-	-	-	-	LOC93432	NM_001293626,p.P1083S|ENST00000477922,p.P1083S	retained_intron, protein_coding	NM_001293626	nonsynonymous SNV	exon28	c.C3247T	p.P1083S	FNDMFLSISTRLPSQYIYGFGETEH	FNDMFLSISTRLSSQYIYGFGETEH	2.0	8.0	unscreened	-	2369_7:141871136-141871136 C>T_FNDMFLSISTRLSSQYIYGFGETEH
4:77057541-77057541 G>A	1.0	2369	MELANOMA	-	-	-	-	NUP54	uc003hjs.3,p.P107L|ENST00000264883,p.P107L|NM_017426,p.P107L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003hjs.3	nonsynonymous SNV	exon4	c.C320T	p.P107L	QQQTTLGGLFSQPTQAPTQSNQLIN	QQQTTLGGLFSQLTQAPTQSNQLIN	8.0	4.0	-	-	2369_4:77057541-77057541 G>A_QQQTTLGGLFSQLTQAPTQSNQLIN
2:210832361-210832361 G>A	1.0	2369	MELANOMA	-	-	-	-	UNC80	ENST00000539183,p.R49K|ENST00000439458,p.R2603K|uc021vvx.1,p.R2598K|ENST00000333907,p.R129K|uc010zje.1,p.R49K|uc010zjd.1,p.R49K|NM_182587,p.R2598K|ENST00000272845,p.R2598K|uc002vdl.1,p.R69K|NM_032504,p.R2603K|uc010zjc.1,p.R2603K	retained_intron, protein_coding, processed_transcript	uc021vvx.1	nonsynonymous SNV	exon51	c.G7793A	p.R2598K	RMFNKIHKMPTLRRQVEWEPASNLI	RMFNKIHKMPTLKRQVEWEPASNLI	5.0	7.0	unscreened	-	2369_2:210832361-210832361 G>A_RMFNKIHKMPTLKRQVEWEPASNLI
1:110019517-110019517 C>T	0.0	2369	MELANOMA	-	-	-	-	SYPL2	ENST00000369872,p.S125F|NM_001040709,p.S125F|uc010ovk.2,p.S125F|uc001dxo.2,p.S125F|uc001dxp.3,p.S125F|ENST00000401021,p.S125F|uc001dxq.2,p.S33F	protein_coding, processed_transcript	uc010ovk.2	nonsynonymous SNV	exon4	c.C374T	p.S125F	APAEFFVTLGIFSFFYTMAALVIYL	APAEFFVTLGIFFFFYTMAALVIYL	1.0	10.0	unscreened	-	2369_1:110019517-110019517 C>T_APAEFFVTLGIFFFFYTMAALVIYL
19:4817345-4817345 A>C	1.0	2369	MELANOMA	-	-	-	-	TICAM1	uc021unj.1,p.C349G|ENST00000248244,p.C349G|NM_182919,p.C349G|uc002mbi.4,p.C349G	protein_coding	uc021unj.1	nonsynonymous SNV	exon1	c.T1045G	p.C349G	SVEDTTSPNTKPCPPTPTTPETSPP	SVEDTTSPNTKPGPPTPTTPETSPP	6.0	10.0	-	-	2369_19:4817345-4817345 A>C_SVEDTTSPNTKPGPPTPTTPETSPP
1:156849804-156849804 C>T	0.0	2369	MELANOMA	-	-	-	1	NTRK1	uc001fqh.1,p.T687I|ENST00000524377,p.T687I|ENST00000358660,p.T684I|uc009wsk.1,p.T684I|uc001fqi.1,p.T681I|ENST00000392302,p.T651I|NM_001007792,p.T651I|uc001fqf.1,p.T651I|ENST00000368196,p.T681I|NM_001012331,p.T681I|NM_002529,p.T687I|uc009wsi.1,p.T386I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009wsk.1	nonsynonymous SNV	exon15	c.C2051T	p.T684I	IYSTDYYRVGGRTMLPIRWMPPESI	IYSTDYYRVGGRIMLPIRWMPPESI	3.0	6.0	unscreened	-	2369_1:156849804-156849804 C>T_IYSTDYYRVGGRIMLPIRWMPPESI
9:21409309-21409309 G>A	0.0	2369	MELANOMA	0.0005	-	-	-	IFNA8	uc003zpc.1,p.R45Q|ENST00000380205,p.R45Q|NM_002170,p.R45Q	protein_coding	uc003zpc.1	nonsynonymous SNV	exon1	c.G134A	p.R45Q	GNRRALILLAQMRRISPFSCLKDRH	GNRRALILLAQMQRISPFSCLKDRH	1.0	10.0	unscreened	-	2369_9:21409309-21409309 G>A_GNRRALILLAQMQRISPFSCLKDRH
8:125551250-125551269 AAAACGCTCCTCTTACCGAT>-	0.0	2369	MELANOMA	-	-	-	-	TATDN1	ENST00000523214,p.I7fs|NM_032026,p.I7fs|ENST00000276692,p.I7fs|ENST00000522310,p.I7fs|ENST00000519776,p.I7fs|ENST00000605953,p.I7fs|uc003yrd.2,p.I7fs|ENST00000522810,p.I7fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yrd.2	frameshift deletion	exon1	c.19_22del	p.I7fs	MSRFKFIDIGINLTDPMFR	MSRFKFILVST	9.0	2.0	unscreened	-	2369_8:125551250-125551269 AAAACGCTCCTCTTACCGAT>-_MSRFKFILVST
3:195508418-195508418 C>G	0.0	2369	MELANOMA	-	-	-	2	MUC4	ENST00000477756,p.V3345L|ENST00000475231,p.V3345L|ENST00000480843,p.V3345L|NM_018406,p.V3345L|ENST00000479406,p.V3345L|uc021xjp.1,p.V3345L|ENST00000478156,p.V3345L|ENST00000466475,p.V3345L|ENST00000462323,p.V3345L|ENST00000470451,p.V3345L|ENST00000477086,p.V3345L|ENST00000463781,p.V3345L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G10033C	p.V3345L	SPSSASTGDTTPVPVTDTSSVSTGH	SPSSASTGDTTPLPVTDTSSVSTGH	1.0	1.0	unscreened	-	2369_3:195508418-195508418 C>G_SPSSASTGDTTPLPVTDTSSVSTGH
1:12856111-12856111 C>T	0.0	2369	MELANOMA	-	rs2982215	-	-	PRAMEF1	ENST00000332296,p.P464L|uc001auj.2,p.P464L|ENST00000400814,p.P219L|NM_001294139,p.P219L|NM_023013,p.P464L	protein_coding	uc001auj.2	nonsynonymous SNV	exon4	c.C1391T	p.P464L	IGPTPCPSCGSSPSEELELHLCC	IGPTPCPSCGSSLSEELELHLCC	1.0	2.0	unscreened	-	2369_1:12856111-12856111 C>T_IGPTPCPSCGSSLSEELELHLCC
7:63721262-63721262 G>A	0.0	2369	MELANOMA	-	-	-	-	ZNF679	NM_153363,p.E73K|uc003tsx.3,p.E73K|ENST00000255746,p.E73K|ENST00000421025,p.E73K	protein_coding	uc003tsx.3	nonsynonymous SNV	exon4	c.G217A	p.E73K	KPDLITCLEQNKEPWNIKRNEMVTK	KPDLITCLEQNKKPWNIKRNEMVTK	1.0	9.0	unscreened	-	2369_7:63721262-63721262 G>A_KPDLITCLEQNKKPWNIKRNEMVTK
11:121032794-121032794 C>T	0.0	2369	MELANOMA	-	-	ID=COSM686819;OCCURENCE=1(lung)	-	TECTA	NM_005422,p.P1663S|ENST00000392793,p.P1663S|ENST00000264037,p.P1663S|uc010rzo.2,p.P1663S	protein_coding, processed_transcript	uc010rzo.2	nonsynonymous SNV	exon15	c.C4987T	p.P1663S	WKTNGMQKRPLAPSCNELQFSQYAA	WKTNGMQKRPLASSCNELQFSQYAA	2.0	5.0	unscreened	-	2369_11:121032794-121032794 C>T_WKTNGMQKRPLASSCNELQFSQYAA
18:13059292-13059292 C>T	1.0	2369	MELANOMA	-	-	-	-	CEP192	uc010xac.2,p.A1490V|ENST00000430049,p.A1015V|uc010xad.2,p.A1015V|ENST00000325971,p.A894V|ENST00000510237,p.A1090V|ENST00000506447,p.A1490V|NM_032142,p.A1490V	protein_coding, processed_transcript, nonsense_mediated_decay	uc010xad.2	nonsynonymous SNV	exon11	c.C3044T	p.A1015V	EALASTVTLTAIAESPVIEVETEKK	EALASTVTLTAIVESPVIEVETEKK	7.0	5.0	-	-	2369_18:13059292-13059292 C>T_EALASTVTLTAIVESPVIEVETEKK
2:60688975-60688975 G>A	0.0	2369	MELANOMA	-	-	-	1	BCL11A	uc002sad.1,p.P206S|ENST00000538214,p.P324S|ENST00000356842,p.P358S|uc002saf.1,p.P324S|uc002sab.3,p.P358S|NM_022893,p.P358S|ENST00000358510,p.P324S|uc002sae.1,p.P358S|NM_018014,p.P358S|uc010ypj.2,p.P324S|ENST00000335712,p.P358S	protein_coding, processed_transcript	uc010ypj.2	nonsynonymous SNV	exon3	c.C970T	p.P324S	FQPGSKPPFLATPPLPPLQSAPPPS	FQPGSKPPFLATSPLPPLQSAPPPS	4.0	9.0	unscreened	-	2369_2:60688975-60688975 G>A_FQPGSKPPFLATSPLPPLQSAPPPS
12:25702439-25702439 G>A	0.0	2369	MELANOMA	-	-	-	-	LMNTD1	NM_001145729,p.S44F|uc001rgs.2,p.S23F|NM_152590,p.S23F|uc009zjc.2,p.S44F|ENST00000458174,p.S44F|uc010sji.1,p.S44F|ENST00000282881,p.S23F|ENST00000413632,p.S44F|NM_001145728,p.S44F	protein_coding	uc010sji.1	nonsynonymous SNV	exon3	c.C131T	p.S44F	EDKLGVYSLVHFSPKMLGSVATTLP	EDKLGVYSLVHFFPKMLGSVATTLP	1.0	7.0	unscreened	-	2369_12:25702439-25702439 G>A_EDKLGVYSLVHFFPKMLGSVATTLP
2:102641081-102641081 C>T	0.0	2369	MELANOMA	-	-	-	-	IL1R2	ENST00000332549,p.H280Y|uc002tbo.2,p.H280Y|ENST00000441002,p.H280Y|uc002tbn.4,p.H280Y|uc002tbm.3,p.H280Y|NM_001261419,p.H280Y|uc031rop.1,p.H195Y|NM_004633,p.H280Y|ENST00000393414,p.H280Y	retained_intron, protein_coding, processed_transcript	uc031rop.1	nonsynonymous SNV	exon6	c.C583T	p.H195Y	LTTMLWWTANDTHIESAYPGGRVTE	LTTMLWWTANDTYIESAYPGGRVTE	2.0	8.0	unscreened	-	2369_2:102641081-102641081 C>T_LTTMLWWTANDTYIESAYPGGRVTE
16:62055219-62055219 G>A	0.0	2369	MELANOMA	-	-	ID=COSM972114;OCCURENCE=1(endometrium)	-	CDH8	ENST00000584506,p.A30V|ENST00000583382,p.A30V|ENST00000585315,p.A30V|ENST00000577390,p.A30V|ENST00000577730,p.A30V|ENST00000299345,p.A30V|NM_001796,p.A30V|uc002eog.2,p.A30V|ENST00000584337,p.A30V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002eog.2	nonsynonymous SNV	exon2	c.C89T	p.A30V	ILWITLPPCIYMAPMNQSQVLMSGS	ILWITLPPCIYMVPMNQSQVLMSGS	4.0	9.0	unscreened	-	2369_16:62055219-62055219 G>A_ILWITLPPCIYMVPMNQSQVLMSGS
1:26671689-26671689 G>A	0.0	2369	MELANOMA	-	-	-	-	AIM1L	NM_001039775,p.S487F|uc001bmd.4,p.S487F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001bmd.4	nonsynonymous SNV	exon2	c.C1460T	p.S487F	PTRKEVVQGSSASAASSPTWKEVVK	PTRKEVVQGSSAFAASSPTWKEVVK	3.0	3.0	unscreened	-	2369_1:26671689-26671689 G>A_PTRKEVVQGSSAFAASSPTWKEVVK
4:70709971-70709971 G>A	0.0	2369	MELANOMA	0.0005	-	-	-	SULT1E1	NM_005420,p.S227L|ENST00000226444,p.S227L|uc003heo.3,p.S227L	retained_intron, protein_coding, nonsense_mediated_decay	uc003heo.3	nonsynonymous SNV	exon7	c.C680T	p.S227L	SEELVDRIIHHTSFQEMKNNPSTNY	SEELVDRIIHHTLFQEMKNNPSTNY	1.0	8.0	unscreened	-	2369_4:70709971-70709971 G>A_SEELVDRIIHHTLFQEMKNNPSTNY
11:124266884-124266884 G>A	0.0	2369	MELANOMA	-	-	ID=COSM1719828;OCCURENCE=2(NS)	-	OR8B3	uc010saj.2,p.R122C|NM_001005467,p.R122C|ENST00000354597,p.R122C	protein_coding	uc010saj.2	nonsynonymous SNV	exon1	c.C364T	p.R122C	SECYMLTSMAYDRYVAICNPLLYKV	SECYMLTSMAYDCYVAICNPLLYKV	1.0	3.0	unscreened	-	2369_11:124266884-124266884 G>A_SECYMLTSMAYDCYVAICNPLLYKV
19:9002519-9002519 G>C	0.0	2369	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.H13433D|NM_024690,p.H13433D|ENST00000380951,p.H74D|ENST00000397910,p.H13433D|uc010dwj.3,p.H250D	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dwj.3	nonsynonymous SNV	exon8	c.C748G	p.H250D	GITELGPYTLDRHSLYVNGFTHQSS	GITELGPYTLDRDSLYVNGFTHQSS	1.0	2.0	unscreened	-	2369_19:9002519-9002519 G>C_GITELGPYTLDRDSLYVNGFTHQSS
19:51274735-51274735 G>A	0.0	2369	MELANOMA	-	-	ID=COSM1395556;OCCURENCE=1(large_intestine)	-	GPR32	ENST00000270590,p.R293Q|uc010ycf.3,p.R293Q|NM_001506,p.R293Q	protein_coding	uc010ycf.3	nonsynonymous SNV	exon1	c.G878A	p.R293Q	WRRVMLKEIYHPRMLLILQASFALG	WRRVMLKEIYHPQMLLILQASFALG	1.0	1.0	unscreened	-	2369_19:51274735-51274735 G>A_WRRVMLKEIYHPQMLLILQASFALG
12:103246707-103246707 C>T	0.0	2369	MELANOMA	-	-	-	-	PAH	ENST00000553106,p.R243Q|uc001tjq.1,p.R243Q|ENST00000307000,p.R238Q|NM_000277,p.R243Q	retained_intron, protein_coding, processed_transcript	uc001tjq.1	nonsynonymous SNV	exon7	c.G728A	p.R243Q	SQFLQTCTGFRLRPVAGLLSSRDFL	SQFLQTCTGFRLQPVAGLLSSRDFL	4.0	10.0	unscreened	-	2369_12:103246707-103246707 C>T_SQFLQTCTGFRLQPVAGLLSSRDFL
1:20674846-20674846 G>A	0.0	2369	MELANOMA	-	-	-	-	VWA5B1	ENST00000375079,p.G957E	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000375079	nonsynonymous SNV	exon18	c.G2870A	p.G957E	RPQTMLGEDSAPGNGKFQALNMEAS	RPQTMLGEDSAPENGKFQALNMEAS	1.0	10.0	unscreened	-	2369_1:20674846-20674846 G>A_RPQTMLGEDSAPENGKFQALNMEAS
9:125140199-125140199 C>T	0.0	2369	MELANOMA	-	-	-	-	PTGS1	NM_001271164,p.P39L|uc004bmg.2,p.P39L|ENST00000362012,p.P39L|NM_000962,p.P39L|NM_080591,p.P39L|uc004bmf.2,p.P39L|uc031tey.1,p.P39L|ENST00000223423,p.P39L	protein_coding	uc031tey.1	nonsynonymous SNV	exon3	c.C116T	p.P39L	GAPTPVNPCCYYPCQHQGICVRFGL	GAPTPVNPCCYYLCQHQGICVRFGL	4.0	5.0	unscreened	-	2369_9:125140199-125140199 C>T_GAPTPVNPCCYYLCQHQGICVRFGL
9:71628285-71628285 C>T	0.0	2369	MELANOMA	-	-	-	-	PRKACG	ENST00000377276,p.D242N|NM_002732,p.D242N|uc004agy.3,p.D242N	protein_coding	uc004agy.3	nonsynonymous SNV	exon1	c.G724A	p.D242N	YEMAVGFPPFYADQPIQIYEKIVSG	YEMAVGFPPFYANQPIQIYEKIVSG	1.0	10.0	unscreened	-	2369_9:71628285-71628285 C>T_YEMAVGFPPFYANQPIQIYEKIVSG
11:12315688-12315688 G>A	0.0	2369	MELANOMA	-	-	-	-	MICALCL	ENST00000256186,p.G237E|uc001mkg.1,p.G237E|NM_032867,p.G237E	protein_coding, processed_transcript	uc001mkg.1	nonsynonymous SNV	exon3	c.G710A	p.G237E	KPVRPLLLPRAAGEPLPTQRGAQEK	KPVRPLLLPRAAEEPLPTQRGAQEK	1.0	3.0	unscreened	-	2369_11:12315688-12315688 G>A_KPVRPLLLPRAAEEPLPTQRGAQEK
22:44681419-44681439 GGGGCCCGCTGACCCGGCCGA>-	0.0	2369	MELANOMA	-	-	ID=COSM445100;OCCURENCE=1(large_intestine),1(breast)	-	KIAA1644	NM_001099294,p.156_163del|uc003bet.2,p.156_163del|ENST00000381176,p.156_163del	protein_coding	uc003bet.2	nonframeshift deletion	exon4	c.468_488del	p.156_163del	QDPRRWGNPARAPRPGQRAPQPQPP	QDPRRWGNPARAPQPQPPPGPLPQA	4.0	1.0	unscreened	-	2369_22:44681419-44681439 GGGGCCCGCTGACCCGGCCGA>-_QDPRRWGNPARAPQPQPPPGPLPQA
6:16327864-16327864 ->TGC	0.0	2369	MELANOMA	-	-	-	-	ATXN1	NM_000332,p.H226delinsQH|uc003nbt.3,p.H226delinsQH|ENST00000244769,p.H226delinsQH|uc010jpi.3,p.H226delinsQH|NM_001128164,p.H226delinsQH|ENST00000436367,p.H226delinsQH	protein_coding, processed_transcript	uc010jpi.3	nonframeshift insertion	exon7	c.677_678insGCA	p.H226delinsQH	QQQQQQQQQQQQHLSRAPGLITPGS	QQQQQQQQQQQQQHLSRAPGLITPG	7.0	1.0	unscreened	-	2369_6:16327864-16327864 ->TGC_QQQQQQQQQQQQQHLSRAPGLITPG
17:11827226-11827226 G>T	0.0	2369	MELANOMA	-	-	-	-	DNAH9	uc002gnf.3,p.A261S|NM_004662,p.A261S|ENST00000262442,p.A3949S|ENST00000396001,p.A261S|uc002gne.3,p.A3949S|NM_001372,p.A3949S	retained_intron, protein_coding, processed_transcript	uc002gnf.3	nonsynonymous SNV	exon8	c.G781T	p.A261S	GQEVVAEAALDLAAKKGHWVILQNI	GQEVVAEAALDLSAKKGHWVILQNI	7.0	4.0	-	-	2369_17:11827226-11827226 G>T_GQEVVAEAALDLSAKKGHWVILQNI
1:148009371-148009371 G>A	1.0	2369	MELANOMA	-	rs200683178	-	-	NBPF8	uc021owa.1,p.R627C|uc001eqq.3,p.R646C|ENST00000369219,p.R646C	protein_coding	uc021owa.1	nonsynonymous SNV	exon16	c.C1879T	p.R627C	PYRSAFYILEQQRVGLAVDMDEIEK	PYRSAFYILEQQCVGLAVDMDEIEK	6.0	9.0	unscreened	-	2369_1:148009371-148009371 G>A_PYRSAFYILEQQCVGLAVDMDEIEK
4:36296495-36296495 C>T	0.0	2369	MELANOMA	-	-	-	-	DTHD1	uc011bxy.3,p.P203S|ENST00000357504,p.P203S|ENST00000507598,p.P408S|NM_001170700,p.P368S|NM_001136536,p.P203S|uc021xne.2,p.P368S|ENST00000456874,p.P368S	protein_coding, processed_transcript	uc021xne.2	nonsynonymous SNV	exon4	c.C1102T	p.P368S	QQDTFYSVQSTSPLIHIQHPSTYPF	QQDTFYSVQSTSSLIHIQHPSTYPF	1.0	9.0	unscreened	-	2369_4:36296495-36296495 C>T_QQDTFYSVQSTSSLIHIQHPSTYPF
17:11827226-11827226 G>T	0.0	2369	MELANOMA	-	-	-	-	DNAH9	ENST00000454412,p.A3949S|uc010coo.3,p.A3243S	retained_intron, protein_coding, processed_transcript	uc010coo.3	nonsynonymous SNV	exon50	c.G9727T	p.A3243S	GQEVVAEAALDLAAKKGHWVILQDT	GQEVVAEAALDLSAKKGHWVILQDT	7.0	4.0	unscreened	-	2369_17:11827226-11827226 G>T_GQEVVAEAALDLSAKKGHWVILQDT
1:68905244-68905244 C>T	0.0	2369	MELANOMA	-	-	-	-	RPE65	ENST00000262340,p.S242N|NM_000329,p.S242N|uc001dei.1,p.S242N	protein_coding	uc001dei.1	nonsynonymous SNV	exon7	c.G725A	p.S242N	PCSDRFKPSYVHSFGLTPNYIVFVE	PCSDRFKPSYVHNFGLTPNYIVFVE	1.0	10.0	unscreened	-	2369_1:68905244-68905244 C>T_PCSDRFKPSYVHNFGLTPNYIVFVE
2:215891598-215891598 G>A	0.0	2369	MELANOMA	-	-	-	-	ABCA12	ENST00000389661,p.P58S|uc002vev.3,p.P58S|NM_173076,p.P376S|uc002vew.3,p.P376S|NM_015657,p.P58S|ENST00000272895,p.P376S	protein_coding	uc002vew.3	nonsynonymous SNV	exon10	c.C1126T	p.P376S	ALLNISANSPYIPYLACVRNVTDSL	ALLNISANSPYISYLACVRNVTDSL	1.0	5.0	unscreened	-	2369_2:215891598-215891598 G>A_ALLNISANSPYISYLACVRNVTDSL
4:74306478-74306478 C>T	0.0	2369	MELANOMA	-	-	-	-	AFP	NM_001134,p.P144S|ENST00000395792,p.P144S|ENST00000226359,p.P144S|uc003hgz.1,p.P144S	retained_intron, protein_coding, processed_transcript	uc003hgz.1	nonsynonymous SNV	exon4	c.C430T	p.P144S	TPASIPLFQVPEPVTSCEAYEEDRE	TPASIPLFQVPESVTSCEAYEEDRE	1.0	9.0	unscreened	-	2369_4:74306478-74306478 C>T_TPASIPLFQVPESVTSCEAYEEDRE
14:23900689-23900689 C>T	0.0	2369	MELANOMA	-	-	-	-	MYH7	ENST00000355349,p.G245E|uc001wjx.3,p.G245E|NM_000257,p.G245E	protein_coding	uc001wjx.3	nonsynonymous SNV	exon9	c.G734A	p.G245E	AKTVRNDNSSRFGKFIRIHFGATGK	AKTVRNDNSSRFEKFIRIHFGATGK	1.0	5.0	unscreened	-	2369_14:23900689-23900689 C>T_AKTVRNDNSSRFEKFIRIHFGATGK
3:49948188-49948188 G>A	1.0	2369	MELANOMA	-	-	-	-	MON1A	uc003cyb.2,p.T183I|NM_032355,p.T345I|ENST00000455683,p.T183I|ENST00000417270,p.T256I|uc003cya.3,p.T183I|ENST00000296473,p.T345I|uc003cxz.3,p.T345I|NM_001142501,p.T183I	retained_intron, protein_coding, processed_transcript	uc003cyb.2	nonsynonymous SNV	exon3	c.C548T	p.T183I	LLYIYYQILSLLTGAQLSHIFQQKQ	LLYIYYQILSLLIGAQLSHIFQQKQ	7.0	6.0	unscreened	-	2369_3:49948188-49948188 G>A_LLYIYYQILSLLIGAQLSHIFQQKQ
14:23900690-23900690 C>T	0.0	2369	MELANOMA	-	-	-	-	MYH7	uc001wjx.3,p.G245R|NM_000257,p.G245R|ENST00000355349,p.G245R	protein_coding	uc001wjx.3	nonsynonymous SNV	exon9	c.G733A	p.G245R	AKTVRNDNSSRFGKFIRIHFGATGK	AKTVRNDNSSRFRKFIRIHFGATGK	1.0	5.0	unscreened	-	2369_14:23900690-23900690 C>T_AKTVRNDNSSRFRKFIRIHFGATGK
19:56329414-56329414 G>A	0.0	2369	MELANOMA	-	-	-	-	NLRP11	ENST00000443188,p.P43S|ENST00000589824,p.P43S|ENST00000589093,p.P43S|ENST00000360133,p.P43S|uc010ygf.2,p.P43S|NM_145007,p.P43S|ENST00000593244,p.P43S	protein_coding, nonsense_mediated_decay	uc010ygf.2	nonsynonymous SNV	exon4	c.C127T	p.P43S	ARKILDFKLPQFPLIQMTKEELANV	ARKILDFKLPQFSLIQMTKEELANV	5.0	5.0	-	-	2369_19:56329414-56329414 G>A_ARKILDFKLPQFSLIQMTKEELANV
11:68660340-68660340 G>A	1.0	2369	MELANOMA	-	-	-	-	MRPL21	uc010rqe.1,p.P191S|ENST00000567045,p.P106S	retained_intron, protein_coding, nonsense_mediated_decay	uc010rqe.1	nonsynonymous SNV	exon6	c.C571T	p.P191S	NFKKKRSKLEKVPLGPVARCWLPRR	NFKKKRSKLEKVSLGPVARCWLPRR	10.0	8.0	unscreened	-	2369_11:68660340-68660340 G>A_NFKKKRSKLEKVSLGPVARCWLPRR
10:129847856-129847856 C>T	0.0	2369	MELANOMA	-	-	-	-	PTPRE	ENST00000467366,p.P72L|ENST00000471218,p.P114L	protein_coding, processed_transcript	ENST00000471218	nonsynonymous SNV	exon5	c.C341T	p.P114L	QVTLRAQEVFSHPRGAPGGGDPYQI	QVTLRAQEVFSHLRGAPGGGDPYQI	1.0	4.0	unscreened	-	2369_10:129847856-129847856 C>T_QVTLRAQEVFSHLRGAPGGGDPYQI
2:170038097-170038097 C>T	0.0	2369	MELANOMA	0.0009	-	ID=COSM1009193;OCCURENCE=1(endometrium)	-	LRP2	uc002ues.3,p.A3344T|NM_004525,p.A3344T|ENST00000263816,p.A3344T	retained_intron, protein_coding, processed_transcript	uc002ues.3	nonsynonymous SNV	exon52	c.G10030A	p.A3344T	YGYLYWADWGHRAYIGRVGMDGTNK	YGYLYWADWGHRTYIGRVGMDGTNK	2.0	7.0	unscreened	-	2369_2:170038097-170038097 C>T_YGYLYWADWGHRTYIGRVGMDGTNK
2:116594311-116594311 G>A	0.0	2369	MELANOMA	-	-	-	-	DPP10	NM_001178037,p.G720E|ENST00000393147,p.G728E|uc002tlb.2,p.G674E|NM_020868,p.G724E|ENST00000310323,p.G717E|uc002tlc.2,p.G720E|uc002tle.3,p.G728E|uc002tla.2,p.G724E|NM_001178036,p.G674E|ENST00000409163,p.G674E|NM_001178034,p.G728E|ENST00000410059,p.G724E|NM_001004360,p.G717E|uc002tlf.2,p.G717E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tlf.2	nonsynonymous SNV	exon24	c.G2150A	p.G717E	HGLKEENILIIHGTADTKVHFQHSA	HGLKEENILIIHETADTKVHFQHSA	1.0	8.0	unscreened	-	2369_2:116594311-116594311 G>A_HGLKEENILIIHETADTKVHFQHSA
9:104133227-104133227 G>A	1.0	2369	MELANOMA	-	-	-	-	BAAT	ENST00000259407,p.P154S|NM_001127610,p.P154S|ENST00000395051,p.P154S|uc010mtd.3,p.P154S|NM_001701,p.P154S|uc004bbd.4,p.P154S	protein_coding	uc010mtd.3	nonsynonymous SNV	exon2	c.C460T	p.P154S	VREGRLRGALFLPPGEGLFPGVIDL	VREGRLRGALFLSPGEGLFPGVIDL	4.0	6.0	unscreened	-	2369_9:104133227-104133227 G>A_VREGRLRGALFLSPGEGLFPGVIDL
18:31319641-31319641 C>T	0.0	2369	MELANOMA	-	-	-	-	ASXL3	ENST00000269197,p.S758F|uc010dmg.1,p.S758F|NM_030632,p.S758F|uc002kxq.2,p.S465F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dmg.1	nonsynonymous SNV	exon11	c.C2273T	p.S758F	LPLPSETSPISNSSINERMAHQQRK	LPLPSETSPISNFSINERMAHQQRK	1.0	7.0	unscreened	-	2369_18:31319641-31319641 C>T_LPLPSETSPISNFSINERMAHQQRK
17:10355446-10355446 C>T	1.0	2369	MELANOMA	-	-	-	-	MYH4	ENST00000255381,p.E1184K|NM_017533,p.E1184K|uc002gmn.3,p.E1184K	protein_coding	uc002gmn.3	nonsynonymous SNV	exon27	c.G3550A	p.E1184K	EAEFQKMRRDLEESTLQHEATAAAL	EAEFQKMRRDLEKSTLQHEATAAAL	1.0	8.0	unscreened	-	2369_17:10355446-10355446 C>T_EAEFQKMRRDLEKSTLQHEATAAAL
16:3487370-3487370 G>A	0.0	2369	MELANOMA	-	-	-	-	ZNF597	NM_152457,p.P110L|ENST00000301744,p.P110L|uc002cvd.3,p.P110L	protein_coding	uc002cvd.3	nonsynonymous SNV	exon4	c.C329T	p.P110L	VGNPEAKILSGTPTYKRRVISLLVT	VGNPEAKILSGTLTYKRRVISLLVT	4.0	8.0	unscreened	-	2369_16:3487370-3487370 G>A_VGNPEAKILSGTLTYKRRVISLLVT
4:103822483-103822484 AC>-	0.0	2369	MELANOMA	-	-	ID=COSM1426150;OCCURENCE=1(large_intestine)	-	SLC9B1	ENST00000296422,p.V446fs|NM_139173,p.V446fs|uc011cev.2,p.V219fs|uc003hww.3,p.V446fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cev.2	frameshift deletion	exon9	c.657_658del	p.V219fs	ALAWMPKATVQAVLGPLALETARVS	ALAWMPKATVQAVRSSGSRNSKSLRTPLGTICEGCDDSSIFSHLDHSSKWSSTYGHSGA	3.0	1.0	unscreened	-	2369_4:103822483-103822484 AC>-_ALAWMPKATVQAVRSSGSRNSKSLRTPLGTICEGCDDSSIFSHLDHSSKWSSTYGHSGA
X:30260394-30260394 G>A	0.0	2369	MELANOMA	-	-	ID=COSM612797;OCCURENCE=1(lung)	-	MAGEB4	ENST00000378982,p.D48N|uc004dcb.3,p.D48N|NM_002367,p.D48N	protein_coding	uc004dcb.3	nonsynonymous SNV	exon1	c.G142A	p.D48N	EESPSSSSSVLRDTASSSLAFGIPQ	EESPSSSSSVLRNTASSSLAFGIPQ	1.0	10.0	unscreened	-	2369_X:30260394-30260394 G>A_EESPSSSSSVLRNTASSSLAFGIPQ
16:23718370-23718370 G>A	0.0	2369	MELANOMA	-	-	-	-	ERN2	uc010bxp.3,p.H161Y|uc002dma.4,p.H161Y|ENST00000256797,p.H161Y|ENST00000457008,p.H113Y|NM_033266,p.H161Y	retained_intron, protein_coding, nonsense_mediated_decay	uc010bxp.3	nonsynonymous SNV	exon5	c.C481T	p.H161Y	LMKLPFTIPELVHASPCRSSDGVFY	LMKLPFTIPELVYASPCRSSDGVFY	2.0	9.0	unscreened	-	2369_16:23718370-23718370 G>A_LMKLPFTIPELVYASPCRSSDGVFY
3:71247141-71247141 C>T	0.0	2369	MELANOMA	-	-	-	1	FOXP1	uc003dos.3,p.E87K|ENST00000318779,p.E87K|NM_001012505,p.E87K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003dos.3	nonsynonymous SNV	exon7	c.G259A	p.E87K	WLKRLISSPWELEVLQVPLWGAVAE	WLKRLISSPWELKVLQVPLWGAVAE	5.0	6.0	unscreened	-	2369_3:71247141-71247141 C>T_WLKRLISSPWELKVLQVPLWGAVAE
16:29468956-29468956 G>A	1.0	2369	MELANOMA	-	-	-	-	SLX1A,SLX1B	uc002dsy.3,p.E82K|NM_178044,p.E82K|ENST00000351581,p.E82K|NM_001015000,p.E82K	retained_intron, protein_coding	uc002dsy.3	nonsynonymous SNV	exon3	c.G244A	p.E82K	HGFPSSVAALRDEEGPLCCPHPGCL	HGFPSSVAALRDKEGPLCCPHPGCL	8.0	3.0	unscreened	-	2369_16:29468956-29468956 G>A_HGFPSSVAALRDKEGPLCCPHPGCL
17:11827226-11827226 G>T	0.0	2369	MELANOMA	-	-	-	-	DNAH9	uc010vvh.1,p.A302S	retained_intron, protein_coding, processed_transcript	uc010vvh.1	nonsynonymous SNV	exon7	c.G904T	p.A302S	GQEVVAEAALDLAAKKGHWVILQVK	GQEVVAEAALDLSAKKGHWVILQVK	7.0	4.0	unscreened	-	2369_17:11827226-11827226 G>T_GQEVVAEAALDLSAKKGHWVILQVK
5:75954460-75954460 G>A	0.0	2369	MELANOMA	-	-	-	-	IQGAP2	NM_001285461,p.G329R|uc010izv.2,p.G386R|ENST00000396234,p.G329R|uc003kel.3,p.G329R|ENST00000514350,p.G806R|ENST00000514001,p.G386R|ENST00000379730,p.G335R|ENST00000274364,p.G833R|uc011csv.2,p.G329R|NM_006633,p.G833R|NM_001285462,p.G329R|ENST00000505766,p.G783R|NM_001285460,p.G783R|ENST00000502745,p.G329R|uc003kek.3,p.G833R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011csv.2	nonsynonymous SNV	exon9	c.G985A	p.G329R	LEKDLNLMDIKIGLLVKNRITLEDV	LEKDLNLMDIKIRLLVKNRITLEDV	4.0	10.0	unscreened	-	2369_5:75954460-75954460 G>A_LEKDLNLMDIKIRLLVKNRITLEDV
3:184700367-184700367 C>T	1.0	2369	MELANOMA	-	-	-	-	VPS8	NM_001009921,p.P1145L|ENST00000436792,p.P1143L|ENST00000446204,p.P1053L|ENST00000437079,p.P1145L|uc010hye.1,p.P572L|uc003fpb.1,p.P1143L|NM_015303,p.P1143L|uc010hyd.1,p.P1053L|ENST00000287546,p.P1145L|uc021xik.1,p.P1145L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xik.1	nonsynonymous SNV	exon40	c.C3434T	p.P1145L	NLNQQQREALWFPLLEAMMAPQKLS	NLNQQQREALWFLLLEAMMAPQKLS	8.0	6.0	unscreened	-	2369_3:184700367-184700367 C>T_NLNQQQREALWFLLLEAMMAPQKLS
3:108076811-108076811 C>T	0.0	2369	MELANOMA	-	-	-	-	HHLA2	uc010hpu.3,p.S269F|NM_007072,p.S269F|uc011bhl.2,p.S205F|NM_001282559,p.S205F|ENST00000467562,p.S205F|NM_001282556,p.S269F|ENST00000357759,p.S269F|uc003dwy.4,p.S269F|NM_001282557,p.S269F|NM_001282558,p.S269F|ENST00000489514,p.S269F|uc003dwz.3,p.S269F|ENST00000491820,p.S269F|ENST00000467761,p.S269F	protein_coding	uc011bhl.2	nonsynonymous SNV	exon7	c.C614T	p.S205F	KVTWSRMKSGTFSVLAYYLSSSQNT	KVTWSRMKSGTFFVLAYYLSSSQNT	1.0	7.0	unscreened	-	2369_3:108076811-108076811 C>T_KVTWSRMKSGTFFVLAYYLSSSQNT
3:46414944-46414975 ACAGTCAGTATCAATTCTGGAAGAATTTCCAG>-	0.0	2369	MELANOMA	-	-	ID=COSM1423390;OCCURENCE=1(large_intestine),1(breast)	-	CCR5	NM_001100168,p.Y184fs|ENST00000292303,p.Y184fs|uc021wxb.1,p.Y184fs|ENST00000445772,p.Y184fs|ENST00000343801,p.Y184fs|uc003cpo.4,p.Y184fs|uc010hjd.3,p.Y184fs|NM_000579,p.Y184fs	protein_coding	uc021wxb.1	frameshift deletion	exon1	c.551_582del	p.Y184fs	EGLHYTCSSHFPYSQYQFWKNFQTL	EGLHYTCSSHFPYIKDSHLGAGPAAACHGHLLLGNPKNSASVSK	1.0	2.0	unscreened	-	2369_3:46414944-46414975 ACAGTCAGTATCAATTCTGGAAGAATTTCCAG>-_EGLHYTCSSHFPYIKDSHLGAGPAAACHGHLLLGNPKNSASVSK
2:79385787-79385787 G>A	0.0	2369	MELANOMA	-	rs77686105	-	-	REG3A	NM_138938,p.T62I|uc002soe.2,p.T62I|NM_002580,p.T62I|uc002sof.2,p.T62I|ENST00000409839,p.T62I|NM_138937,p.T62I|uc002sod.2,p.T62I|ENST00000393878,p.T62I|ENST00000305165,p.T62I	retained_intron, protein_coding	uc002sof.2	nonsynonymous SNV	exon3	c.C185T	p.T62I	HCYALFLSPKSWTDADLACQKRPSG	HCYALFLSPKSWIDADLACQKRPSG	1.0	2.0	unscreened	-	2369_2:79385787-79385787 G>A_HCYALFLSPKSWIDADLACQKRPSG
9:125140179-125140179 G>A	0.0	2369	MELANOMA	-	-	-	-	PTGS1	uc011lys.2,p.M7I|ENST00000540753,p.M7I|NM_001271368,p.M7I	protein_coding	uc011lys.2	nonsynonymous SNV	exon4	c.G21A	p.M7I	MRKPRLMNPCCYYPCQHQG	MRKPRLINPCCYYPCQHQG	4.0	8.0	unscreened	-	2369_9:125140179-125140179 G>A_MRKPRLINPCCYYPCQHQG
1:47264904-47264904 A>C	0.0	2369	MELANOMA	-	-	-	-	CYP4B1	ENST00000534708,p.T51P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000534708	nonsynonymous SNV	exon1	c.A151C	p.T51P	LAKAMDKFPGPPTHWLFGHALEGEA	LAKAMDKFPGPPPHWLFGHALEGEA	1.0	4.0	unscreened	-	2369_1:47264904-47264904 A>C_LAKAMDKFPGPPPHWLFGHALEGEA
19:51274722-51274722 A>T	0.0	2369	MELANOMA	-	-	ID=COSM1395555;OCCURENCE=1(large_intestine)	-	GPR32	uc010ycf.3,p.I289F|NM_001506,p.I289F|ENST00000270590,p.I289F	protein_coding	uc010ycf.3	nonsynonymous SNV	exon1	c.A865T	p.I289F	LVHLWRRVMLKEIYHPRMLLILQAS	LVHLWRRVMLKEFYHPRMLLILQAS	1.0	2.0	unscreened	-	2369_19:51274722-51274722 A>T_LVHLWRRVMLKEFYHPRMLLILQAS
4:77057541-77057541 G>A	1.0	2369	MELANOMA	-	-	-	-	NUP54	ENST00000514987,p.P59L|uc011cbt.2,p.P59L|NM_001278603,p.P59L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cbt.2	nonsynonymous SNV	exon3	c.C176T	p.P59L	TGTTALGGLFSQPTQAPTQSNQLIN	TGTTALGGLFSQLTQAPTQSNQLIN	8.0	4.0	unscreened	-	2369_4:77057541-77057541 G>A_TGTTALGGLFSQLTQAPTQSNQLIN
9:135940588-135940588 C>T	0.0	2369	MELANOMA	-	-	-	-	CEL	uc010naa.2,p.L171F|NM_001807,p.L171F|ENST00000372080,p.L171F|ENST00000351304,p.L168F	protein_coding	uc010naa.2	nonsynonymous SNV	exon4	c.C511T	p.L171F	VIVVTFNYRVGPLGFLSTGDANLPG	VIVVTFNYRVGPFGFLSTGDANLPG	4.0	5.0	unscreened	-	2369_9:135940588-135940588 C>T_VIVVTFNYRVGPFGFLSTGDANLPG
4:113353294-113353294 C>T	0.0	2369	MELANOMA	-	-	-	-	ALPK1	ENST00000458497,p.P864L|uc003ian.4,p.P864L|ENST00000177648,p.P864L|uc011cfx.2,p.P786L|NM_001102406,p.P864L|ENST00000504176,p.P786L|NM_001253884,p.P786L|uc003iap.4,p.P864L|NM_025144,p.P864L|uc010imo.3,p.P692L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cfx.2	nonsynonymous SNV	exon10	c.C2357T	p.P786L	DEEGQLLDSMDVPCTNGHGSHRLCI	DEEGQLLDSMDVLCTNGHGSHRLCI	6.0	7.0	-	-	2369_4:113353294-113353294 C>T_DEEGQLLDSMDVLCTNGHGSHRLCI
14:104506621-104506621 G>A	0.0	2369	MELANOMA	-	-	ID=COSM953721;OCCURENCE=1(breast),1(endometrium)	-	TDRD9	uc001yom.4,p.D1269N|ENST00000409874,p.D1269N|NM_153046,p.D1269N	retained_intron, protein_coding, processed_transcript	uc001yom.4	nonsynonymous SNV	exon33	c.G3805A	p.D1269N	NPATGASILPEHDMELAFDVQFSVE	NPATGASILPEHNMELAFDVQFSVE	1.0	2.0	unscreened	-	2369_14:104506621-104506621 G>A_NPATGASILPEHNMELAFDVQFSVE
20:42089231-42089231 C>T	1.0	2369	MELANOMA	-	-	-	-	SRSF6	NM_006275,p.R223C|ENST00000244020,p.R223C|uc010zwg.2,p.R223C|uc002xki.3,p.R94C	protein_coding, nonsense_mediated_decay	uc010zwg.2	nonsynonymous SNV	exon5	c.C667T	p.R223C	SSRSRSRSISKSRSRSRSRSKGRSR	SSRSRSRSISKSCSRSRSRSKGRSR	10.0	8.0	-	-	2369_20:42089231-42089231 C>T_SSRSRSRSISKSCSRSRSRSKGRSR
12:126138582-126138582 G>A	0.0	2369	MELANOMA	-	-	-	-	TMEM132B	uc001uhe.1,p.E855K|uc001uhf.1,p.E367K|NM_052907,p.E855K|ENST00000299308,p.E855K|ENST00000535886,p.E367K|NM_001286219,p.E367K	retained_intron, protein_coding, processed_transcript	uc001uhf.1	nonsynonymous SNV	exon5	c.G1099A	p.E367K	STNKSTTPQSPMEGKNKLLKSGGPD	STNKSTTPQSPMKGKNKLLKSGGPD	3.0	3.0	unscreened	-	2369_12:126138582-126138582 G>A_STNKSTTPQSPMKGKNKLLKSGGPD
1:47264904-47264904 A>C	0.0	2369	MELANOMA	-	-	-	-	CYP4B1	ENST00000529715,p.T51P|NM_000779,p.T51P|uc001cqn.4,p.T51P|ENST00000371923,p.T51P|NM_001099772,p.T51P|ENST00000371919,p.T51P|uc009vym.3,p.T51P|ENST00000464439,p.T51P|uc001cqm.4,p.T51P|ENST00000271153,p.T51P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009vym.3	nonsynonymous SNV	exon1	c.A151C	p.T51P	LAKAMDKFPGPPTHWLFGHALEIQE	LAKAMDKFPGPPPHWLFGHALEIQE	1.0	4.0	unscreened	-	2369_1:47264904-47264904 A>C_LAKAMDKFPGPPPHWLFGHALEIQE
3:96706781-96706781 C>T	0.0	2369	MELANOMA	-	-	-	-	EPHA6	uc003drp.1,p.P353L|NM_001080448,p.P353L|ENST00000470610,p.P353L|uc031sar.1,p.P353L|NM_001278301,p.P353L|ENST00000542517,p.P259L|uc010how.1,p.P353L|ENST00000389672,p.P353L	protein_coding, nonsense_mediated_decay	uc031sar.1	nonsynonymous SNV	exon3	c.C1058T	p.P353L	KLYCGADGDWLVPLGRCICSTGYEE	KLYCGADGDWLVLLGRCICSTGYEE	1.0	6.0	unscreened	-	2369_3:96706781-96706781 C>T_KLYCGADGDWLVLLGRCICSTGYEE
6:29524024-29524024 G>A	0.0	2369	MELANOMA	-	-	-	-	UBD	ENST00000377050,p.P44L|uc003nmo.3,p.P44L|NM_006398,p.P44L	protein_coding	uc003nmo.3	nonsynonymous SNV	exon2	c.C131T	p.P44L	KIKEHVRSKTKVPVQDQVLLLGSKI	KIKEHVRSKTKVLVQDQVLLLGSKI	1.0	3.0	unscreened	-	2369_6:29524024-29524024 G>A_KIKEHVRSKTKVLVQDQVLLLGSKI
17:7386234-7386234 G>A	0.0	2369	MELANOMA	-	rs200251320	-	-	SLC35G6	ENST00000412468,p.V311M|uc010cmj.1,p.V311M|NM_001102614,p.V311M	protein_coding	uc010cmj.1	nonsynonymous SNV	exon2	c.G931A	p.V311M	YMLHETVAPSDIVGAGVVLGSIAII	YMLHETVAPSDIMGAGVVLGSIAII	1.0	1.0	unscreened	-	2369_17:7386234-7386234 G>A_YMLHETVAPSDIMGAGVVLGSIAII
7:29552195-29552195 A>C	1.0	2369	MELANOMA	-	-	-	-	CHN2	ENST00000495789,p.E430D|uc011jzu.2,p.E402D|NM_001293081,p.E210D|uc010kvd.3,p.E273D|ENST00000435288,p.E141D|uc010kvh.3,p.E177D|NM_004067,p.E417D|ENST00000539389,p.E273D|ENST00000439711,p.E235D|ENST00000546235,p.E402D|uc003szz.3,p.E417D|ENST00000409041,p.E281D|uc010kvg.3,p.E235D|NM_001293080,p.E235D|NM_001293076,p.E223D|ENST00000421775,p.E223D|NM_001293075,p.E190D|uc010kvj.3,p.E190D|ENST00000539406,p.E492D|NM_001293078,p.E177D|uc010kvk.3,p.E92D|uc010kvm.3,p.E236D|NM_001293069,p.E492D|NM_001293072,p.E402D|uc011jzv.2,p.E210D|ENST00000222792,p.E417D|uc011jzs.2,p.E492D|uc010kvc.3,p.E382D|NM_001293071,p.E382D|NM_001293073,p.E236D|ENST00000424025,p.E236D|NM_001293077,p.E209D|uc011jzt.2,p.E430D|uc010kvf.3,p.E223D|NM_001039936,p.E281D|NM_001293070,p.E430D|uc010kvi.3,p.E209D|uc003taa.3,p.E281D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, lincRNA	uc011jzv.2	nonsynonymous SNV	exon7	c.A630C	p.E210D	YLMIHLKKVTMNEKDNFMNAENLGI	YLMIHLKKVTMNDKDNFMNAENLGI	8.0	7.0	-	-	2369_7:29552195-29552195 A>C_YLMIHLKKVTMNDKDNFMNAENLGI
20:42907662-42907662 A>C	0.0	2369	MELANOMA	-	-	-	-	GDAP1L1	ENST00000447658,p.T58P|ENST00000537864,p.T84P|uc031rto.1,p.T205P|NM_001256739,p.T218P|NM_024034,p.T276P|uc010zwm.3,p.T218P|NM_001256737,p.T295P|uc002xlq.4,p.T276P|uc010zwn.3,p.T84P|ENST00000438466,p.T218P|uc010zwl.3,p.T295P|NM_001256738,p.T187P|uc031rtn.1,p.T187P|ENST00000342560,p.T276P|NM_001256740,p.T205P	protein_coding	uc031rto.1	nonsynonymous SNV	exon4	c.A613C	p.T205P	CAFTLADVLLGATLHRLKFLGLSKK	CAFTLADVLLGAPLHRLKFLGLSKK	4.0	7.0	unscreened	-	2369_20:42907662-42907662 A>C_CAFTLADVLLGAPLHRLKFLGLSKK
19:36831880-36831880 G>A	0.0	2369	MELANOMA	-	-	-	-	ZFP14	uc010xtd.2,p.P284L|ENST00000270001,p.P283L|uc010eex.2,p.P283L|NM_020917,p.P283L|NM_001297619,p.P284L	protein_coding	uc010xtd.2	nonsynonymous SNV	exon4	c.C851T	p.P284L	LARHQRIHTGEKPYECKDCGKTFRQ	LARHQRIHTGEKLYECKDCGKTFRQ	6.0	4.0	unscreened	-	2369_19:36831880-36831880 G>A_LARHQRIHTGEKLYECKDCGKTFRQ
19:38230757-38230757 G>A	0.0	2369	MELANOMA	-	-	-	-	ZNF573	NM_001172691,p.H210Y|uc002ohf.3,p.H154Y|NM_001172692,p.H124Y|ENST00000536220,p.H124Y|uc021utv.1,p.H124Y|ENST00000357309,p.H124Y|NM_001172689,p.H124Y|uc002ohg.3,p.H124Y|ENST00000339503,p.H154Y|ENST00000392138,p.H125Y|uc010efs.2,p.H125Y|ENST00000590414,p.H212Y|uc002ohe.3,p.H212Y|uc002ohd.3,p.H210Y|NM_152360,p.H154Y|NM_001172690,p.H212Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc021utv.1	nonsynonymous SNV	exon4	c.C370T	p.H124Y	RSGYQLTVHQRFHTGEKTYECRQCG	RSGYQLTVHQRFYTGEKTYECRQCG	5.0	4.0	-	-	2369_19:38230757-38230757 G>A_RSGYQLTVHQRFYTGEKTYECRQCG
3:195508165-195508165 C>G	0.0	2369	MELANOMA	-	-	-	2	MUC4	ENST00000470451,p.S3429T|ENST00000466475,p.S3429T|ENST00000478156,p.S3429T|ENST00000477086,p.S3429T|uc021xjp.1,p.S3429T|ENST00000463781,p.S3429T|ENST00000477756,p.S3429T|ENST00000475231,p.S3429T|ENST00000480843,p.S3429T|ENST00000462323,p.S3429T|ENST00000479406,p.S3429T|NM_018406,p.S3429T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G10286C	p.S3429T	ASTGHATPLPVTSTSSASTGHATPV	ASTGHATPLPVTTTSSASTGHATPV	1.0	1.0	unscreened	-	2369_3:195508165-195508165 C>G_ASTGHATPLPVTTTSSASTGHATPV
12:96284702-96284702 G>A	0.0	2369	MELANOMA	-	-	-	-	CCDC38	uc001tek.2,p.S260L|ENST00000344280,p.S260L|NM_182496,p.S260L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001tek.2	nonsynonymous SNV	exon9	c.C779T	p.S260L	ANIILPKILAKLSLHSSNKEGILEE	ANIILPKILAKLLLHSSNKEGILEE	3.0	3.0	unscreened	-	2369_12:96284702-96284702 G>A_ANIILPKILAKLLLHSSNKEGILEE
11:48238453-48238453 C>T	0.0	2369	MELANOMA	-	-	-	-	OR4B1	uc010rhs.2,p.P31L|ENST00000309562,p.P31L|NM_001005470,p.P31L	protein_coding	uc010rhs.2	nonsynonymous SNV	exon1	c.C92T	p.P31L	PAVQSVCFVVFLPVYLATVVGNGLI	PAVQSVCFVVFLLVYLATVVGNGLI	1.0	3.0	unscreened	-	2369_11:48238453-48238453 C>T_PAVQSVCFVVFLLVYLATVVGNGLI
13:28830497-28830497 C>T	1.0	2369	MELANOMA	-	-	-	-	PAN3	uc010tdo.1,p.P357S|ENST00000399613,p.P157S|uc001urx.3,p.P157S|ENST00000380958,p.P357S|uc001urz.3,p.P357S|NM_175854,p.P357S|ENST00000282391,p.P45S|uc001ury.3,p.P45S	retained_intron, protein_coding, processed_transcript	uc010tdo.1	nonsynonymous SNV	exon7	c.C1069T	p.P357S	HSPKITPHTSPAPRRRSHTPNPASY	HSPKITPHTSPASRRRSHTPNPASY	7.0	6.0	unscreened	-	2369_13:28830497-28830497 C>T_HSPKITPHTSPASRRRSHTPNPASY
17:39921260-39921260 A>C	0.0	2369	MELANOMA	-	-	-	-	JUP	uc002hxs.2,p.S323R|ENST00000310706,p.S323R|ENST00000393930,p.S323R|ENST00000393931,p.S323R|NM_021991,p.S323R|uc002hxr.2,p.S323R|uc002hxq.2,p.S323R|NM_002230,p.S323R	retained_intron, protein_coding	uc002hxs.2	nonsynonymous SNV	exon6	c.T969G	p.S323R	GPQALVQIMRNYSYEKLLWTTSRVL	GPQALVQIMRNYRYEKLLWTTSRVL	3.0	9.0	unscreened	-	2369_17:39921260-39921260 A>C_GPQALVQIMRNYRYEKLLWTTSRVL
3:151155798-151155798 G>A	0.0	2369	MELANOMA	-	-	-	-	IGSF10	uc011bod.2,p.S2184F|NM_178822,p.S2184F|NM_001178145,p.S211F|ENST00000282466,p.S2184F|uc011bob.2,p.S211F|uc011boc.2,p.S163F|NM_001178146,p.S163F	protein_coding, processed_transcript	uc011bod.2	nonsynonymous SNV	exon6	c.C6551T	p.S2184F	KIFWLLPSNDMISFSIDRYTFHANG	KIFWLLPSNDMIFFSIDRYTFHANG	1.0	6.0	unscreened	-	2369_3:151155798-151155798 G>A_KIFWLLPSNDMIFFSIDRYTFHANG
13:20066994-20066994 T>C	0.0	2369	MELANOMA	-	rs78472618	-	-	TPTE2	uc001umd.3,p.K39E|ENST00000382978,p.K39E|NM_001141968,p.K39E|ENST00000457266,p.K39E|uc009zzl.3,p.K39E|ENST00000400103,p.K39E|ENST00000382977,p.K39E|ENST00000382975,p.K39E|ENST00000400230,p.K39E|NM_199254,p.K39E	protein_coding, nonsense_mediated_decay	uc009zzl.3	nonsynonymous SNV	exon5	c.A115G	p.K39E	EFKGAALVSPISKSMLERLSKFEVE	EFKGAALVSPISESMLERLSKFEVE	2.0	1.0	unscreened	-	2369_13:20066994-20066994 T>C_EFKGAALVSPISESMLERLSKFEVE
12:15702049-15702049 C>T	0.0	2369	MELANOMA	-	-	-	-	PTPRO	ENST00000281171,p.H776Y|uc001rcw.2,p.H776Y|uc001rcv.2,p.H776Y|NM_030667,p.H776Y|ENST00000348962,p.H776Y|NM_002848,p.H776Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rcw.2	nonsynonymous SNV	exon14	c.C2326T	p.H776Y	KTKLQEPVAVSSHVVTISSLLPATA	KTKLQEPVAVSSYVVTISSLLPATA	2.0	9.0	unscreened	-	2369_12:15702049-15702049 C>T_KTKLQEPVAVSSYVVTISSLLPATA
11:6661884-6661884 C>T	1.0	2369	MELANOMA	-	-	-	-	DCHS1	NM_003737,p.D321N|ENST00000299441,p.D321N|uc001mem.1,p.D321N	protein_coding	uc001mem.1	nonsynonymous SNV	exon2	c.G961A	p.D321N	AHTGLLQLERPLDFEQRRVHELVVQ	AHTGLLQLERPLNFEQRRVHELVVQ	5.0	4.0	-	-	2369_11:6661884-6661884 C>T_AHTGLLQLERPLNFEQRRVHELVVQ
1:20674846-20674846 G>A	0.0	2369	MELANOMA	-	-	-	-	VWA5B1	uc009vpt.2,p.G434E|ENST00000289815,p.G957E	protein_coding, processed_transcript, nonsense_mediated_decay	uc009vpt.2	nonsynonymous SNV	exon7	c.G1301A	p.G434E	RPQTMLGEDSAPGNGPQRSLATNTL	RPQTMLGEDSAPENGPQRSLATNTL	1.0	10.0	unscreened	-	2369_1:20674846-20674846 G>A_RPQTMLGEDSAPENGPQRSLATNTL
2:196825105-196825105 C>T	0.0	2369	MELANOMA	-	-	-	-	DNAH7	NM_018897,p.E924K|ENST00000312428,p.E924K|uc002utj.4,p.E924K	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon18	c.G2770A	p.E924K	WDAVEFVIHSYRETGTFILASVDEI	WDAVEFVIHSYRKTGTFILASVDEI	4.0	5.0	unscreened	-	2369_2:196825105-196825105 C>T_WDAVEFVIHSYRKTGTFILASVDEI
1:248802213-248802213 C>T	0.0	2369	MELANOMA	-	-	-	-	OR2T35	uc001ies.1,p.G116D|ENST00000317450,p.G116D|NM_001001827,p.G116D	protein_coding	uc001ies.1	nonsynonymous SNV	exon1	c.G347A	p.G116D	YLTLIGGEFFLLGLMAYDRYVAVCN	YLTLIGGEFFLLDLMAYDRYVAVCN	1.0	2.0	unscreened	-	2369_1:248802213-248802213 C>T_YLTLIGGEFFLLDLMAYDRYVAVCN
1:248616448-248616448 G>A	0.0	2369	MELANOMA	-	-	-	-	OR2T2	ENST00000342927,p.G117D|NM_001004136,p.G117D|uc001iek.1,p.G117D	protein_coding	uc001iek.1	nonsynonymous SNV	exon1	c.G350A	p.G117D	YLTLIGGEFFLLGLMAYDRYVAVCN	YLTLIGGEFFLLDLMAYDRYVAVCN	1.0	2.0	unscreened	-	2369_1:248616448-248616448 G>A_YLTLIGGEFFLLDLMAYDRYVAVCN
3:151127080-151127080 C>T	0.0	2369	MELANOMA	-	-	-	-	MED12L	ENST00000474524,p.S1922F|uc003eyp.3,p.S1922F|NM_053002,p.S1922F	protein_coding, processed_transcript	uc003eyp.3	nonsynonymous SNV	exon38	c.C5765T	p.S1922F	DQAALFAAQARPSPQLPQYPGLQQA	DQAALFAAQARPFPQLPQYPGLQQA	1.0	6.0	unscreened	-	2369_3:151127080-151127080 C>T_DQAALFAAQARPFPQLPQYPGLQQA
19:50249933-50249950 CTGCTTCTCCTCCGGCTC>-	0.0	2369	MELANOMA	-	-	ID=COSM999411;OCCURENCE=2(large_intestine),1(endometrium)	-	TSKS	ENST00000358830,p.57_62del|ENST00000246801,p.257_262del|NM_021733,p.257_262del|uc002ppm.3,p.257_262del	retained_intron, protein_coding	uc002ppm.3	nonframeshift deletion	exon6	c.769_786del	p.257_262del	EPEEKQEPEEKQEPEEKQKPEAGLS	EPEEKQEPEEKQKPEAGLSWNSLGP	2.0	2.0	unscreened	-	2369_19:50249933-50249950 CTGCTTCTCCTCCGGCTC>-_EPEEKQEPEEKQKPEAGLSWNSLGP
16:20476995-20476995 G>A	0.0	2369	MELANOMA	-	-	-	-	ACSM2A	uc010vay.2,p.V33M|ENST00000574251,p.V33M|uc010bwe.3,p.V112M|uc002dhf.4,p.V112M|uc002dhg.4,p.V112M|ENST00000396104,p.V112M|uc010vax.1,p.V33M|ENST00000424070,p.V112M|ENST00000219054,p.V112M|ENST00000574692,p.V112M|ENST00000573854,p.V112M|NM_001010845,p.V112M|ENST00000417235,p.V33M|ENST00000575690,p.V112M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vay.2	nonsynonymous SNV	exon2	c.G97A	p.V33M	ACGLQRGDRVAVVLPRVPEWWLVIL	ACGLQRGDRVAVMLPRVPEWWLVIL	1.0	1.0	unscreened	-	2369_16:20476995-20476995 G>A_ACGLQRGDRVAVMLPRVPEWWLVIL
19:41029357-41029357 C>T	0.0	2369	MELANOMA	-	-	-	-	SPTBN4	ENST00000595535,p.S1223F|ENST00000597389,p.S615F|uc002onz.3,p.S1223F|ENST00000598249,p.S1223F|NM_020971,p.S1223F|ENST00000352632,p.S1223F|ENST00000344104,p.S1223F|ENST00000338932,p.S1223F|uc002ony.3,p.S1223F|uc002onx.3,p.S1223F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002onz.3	nonsynonymous SNV	exon17	c.C3668T	p.S1223F	ALVVLRNQEMALSGAELPGTVESVE	ALVVLRNQEMALFGAELPGTVESVE	4.0	2.0	unscreened	-	2369_19:41029357-41029357 C>T_ALVVLRNQEMALFGAELPGTVESVE
14:60213136-60213136 C>T	0.0	2369	MELANOMA	-	-	-	-	RTN1	ENST00000267484,p.G102E|NM_021136,p.G102E|uc001xen.1,p.G102E	retained_intron, protein_coding, processed_transcript	uc001xen.1	nonsynonymous SNV	exon2	c.G305A	p.G102E	DHTFSTTSKDGEGSCYTSLISDICY	DHTFSTTSKDGEESCYTSLISDICY	2.0	2.0	unscreened	-	2369_14:60213136-60213136 C>T_DHTFSTTSKDGEESCYTSLISDICY
6:159457707-159457707 C>T	0.0	2369	MELANOMA	-	-	-	-	TAGAP	NM_152133,p.V272M|NM_054114,p.V450M|ENST00000367066,p.V450M|ENST00000326965,p.V272M|NM_001278733,p.V387M|uc011eft.2,p.V387M|uc003qsa.3,p.V272M|uc003qrz.3,p.V450M	protein_coding	uc011eft.2	nonsynonymous SNV	exon6	c.G1159A	p.V387M	VDLKIKNLAPGSVLPRALVLKAFSS	VDLKIKNLAPGSMLPRALVLKAFSS	1.0	4.0	unscreened	-	2369_6:159457707-159457707 C>T_VDLKIKNLAPGSMLPRALVLKAFSS
3:49695111-49695111 G>A	0.0	2369	MELANOMA	-	-	-	-	BSN	uc003cxe.4,p.E2708K|ENST00000296452,p.E2708K|NM_003458,p.E2708K	retained_intron, protein_coding	uc003cxe.4	nonsynonymous SNV	exon5	c.G8122A	p.E2708K	PKVEIVRYISAPEKTGRGESLACQT	PKVEIVRYISAPKKTGRGESLACQT	3.0	7.0	unscreened	-	2369_3:49695111-49695111 G>A_PKVEIVRYISAPKKTGRGESLACQT
10:18250709-18250709 A>G	0.0	2369	MELANOMA	-	-	-	-	SLC39A12	NM_001145195,p.E154G|NM_001282734,p.E20G|uc001ipn.2,p.E154G|ENST00000377371,p.E154G|uc001ipp.2,p.E154G|NM_001282733,p.E154G|uc010qck.1,p.E20G|uc001ipo.2,p.E154G|NM_152725,p.E154G|ENST00000377374,p.E154G|ENST00000377369,p.E154G|ENST00000539911,p.E20G	protein_coding	uc010qck.1	nonsynonymous SNV	exon2	c.A59G	p.E20G	FYLHSLLSLRQDEDSSFLSQNETED	FYLHSLLSLRQDGDSSFLSQNETED	1.0	10.0	unscreened	-	2369_10:18250709-18250709 A>G_FYLHSLLSLRQDGDSSFLSQNETED
9:38575638-38575638 C>T	0.0	2369	MELANOMA	-	-	ID=COSM455964;OCCURENCE=1(breast)	-	ANKRD18A	ENST00000399703,p.M933I|ENST00000566717,p.M71I|uc004abg.4,p.M933I|uc010mmd.1,p.M54I|NM_147195,p.M933I|uc004abf.1,p.M610I|ENST00000602295,p.M323I|ENST00000313339,p.M54I	protein_coding, processed_transcript, nonsense_mediated_decay	uc010mmd.1	nonsynonymous SNV	exon2	c.G162A	p.M54I	VISTKLFTEKQRMKYFLSTLPTRPE	VISTKLFTEKQRIKYFLSTLPTRPE	4.0	8.0	unscreened	-	2369_9:38575638-38575638 C>T_VISTKLFTEKQRIKYFLSTLPTRPE
22:28193305-28193305 G>A	0.0	2369	MELANOMA	-	-	-	1	MN1	ENST00000302326,p.P1076L|uc003adj.3,p.P1076L|NM_002430,p.P1076L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003adj.3	nonsynonymous SNV	exon1	c.C3227T	p.P1076L	DNPQALVKASRSPLVTGSPKLPPRG	DNPQALVKASRSLLVTGSPKLPPRG	2.0	8.0	unscreened	-	2369_22:28193305-28193305 G>A_DNPQALVKASRSLLVTGSPKLPPRG
9:107361147-107361147 G>A	0.0	2369	MELANOMA	-	-	-	-	OR13C5	ENST00000374779,p.A183V|NM_001004482,p.A183V|uc011lvp.2,p.A183V	protein_coding	uc011lvp.2	nonsynonymous SNV	exon1	c.C548T	p.A183V	NNIINHFTCEILAVMKLACADISGN	NNIINHFTCEILVVMKLACADISGN	1.0	7.0	unscreened	-	2369_9:107361147-107361147 G>A_NNIINHFTCEILVVMKLACADISGN
8:90976658-90976658 G>A	1.0	2369	MELANOMA	-	-	-	1	NBN	uc003yej.1,p.P325L|uc003yei.1,p.P243L|uc011lgb.1,p.P325L|ENST00000265433,p.P325L|ENST00000409330,p.P243L|NM_002485,p.P325L	retained_intron, protein_coding, nonsense_mediated_decay	uc011lgb.1	nonsynonymous SNV	exon8	c.C974T	p.P325L	AVIFMTTKNYCDPQGHPSTGLKTTT	AVIFMTTKNYCDLQGHPSTGLKTTT	8.0	6.0	unscreened	-	2369_8:90976658-90976658 G>A_AVIFMTTKNYCDLQGHPSTGLKTTT
12:124887058-124887058 ->GCT	0.0	2369	MELANOMA	-	-	ID=COSM1476308,COSM1476307;OCCURENCE=1(liver),12(breast)	1	NCOR2	ENST00000397355,p.P511delinsQP|NM_001077261,p.P510delinsQP|NM_006312,p.P511delinsQP|ENST00000429285,p.P510delinsQP|uc021rgc.1,p.P510delinsQP|NM_001206654,p.P510delinsQP|ENST00000404121,p.P81delinsQP|ENST00000356219,p.P511delinsQP|ENST00000404621,p.P510delinsQP|uc010tbc.2,p.P510delinsQP|uc010tbb.2,p.P511delinsQP|uc010tba.2,p.P511delinsQP|ENST00000405201,p.P511delinsQP|uc001ugj.1,p.P511delinsQP	retained_intron, protein_coding	uc021rgc.1	nonframeshift insertion	exon16	c.1528_1529insAGC	p.P510delinsQP	QQQQQQQQQQQQPMPRSSQEEKDEK	QQQQQQQQQQQQQPMPRSSQEEKDE	10.0	1.0	unscreened	-	2369_12:124887058-124887058 ->GCT_QQQQQQQQQQQQQPMPRSSQEEKDE
X:12904112-12904112 C>T	0.0	2369	MELANOMA	-	-	-	-	TLR7	ENST00000380659,p.S162F|NM_016562,p.S162F|uc004cvc.3,p.S162F	protein_coding, processed_transcript	uc004cvc.3	nonsynonymous SNV	exon3	c.C485T	p.S162F	LQLLSLEANNIFSIRKENLTELANI	LQLLSLEANNIFFIRKENLTELANI	1.0	10.0	unscreened	-	2369_X:12904112-12904112 C>T_LQLLSLEANNIFFIRKENLTELANI
1:169510293-169510293 T>G	0.0	2369	MELANOMA	-	-	-	-	F5	ENST00000367797,p.Q1345H|uc001ggg.1,p.Q1345H|ENST00000367796,p.Q1350H|NM_000130,p.Q1345H	protein_coding, processed_transcript	uc001ggg.1	nonsynonymous SNV	exon13	c.A4035C	p.Q1345H	DFSQTNLSPELSQTNLSPALGQMPL	DFSQTNLSPELSHTNLSPALGQMPL	1.0	1.0	unscreened	-	2369_1:169510293-169510293 T>G_DFSQTNLSPELSHTNLSPALGQMPL
12:53009083-53009083 C>T	0.0	2369	MELANOMA	-	-	-	-	KRT73	ENST00000552855,p.E12K	retained_intron, protein_coding	ENST00000552855	nonsynonymous SNV	exon1	c.G34A	p.E12K	EEINKRTTAENEFVVLKKETAQIQ	EEINKRTTAENKFVVLKKETAQIQ	1.0	10.0	unscreened	-	2369_12:53009083-53009083 C>T_EEINKRTTAENKFVVLKKETAQIQ
7:15666531-15666531 C>T	0.0	2369	MELANOMA	-	-	ID=COSM1698375;OCCURENCE=1(skin)	-	MEOX2	uc003stc.3,p.G177E|NM_005924,p.G177E|ENST00000262041,p.G177E	protein_coding	uc003stc.3	nonsynonymous SNV	exon2	c.G530A	p.G177E	GKRKSDSSDSQEGNYKSEVNSKPRK	GKRKSDSSDSQEENYKSEVNSKPRK	1.0	8.0	unscreened	-	2369_7:15666531-15666531 C>T_GKRKSDSSDSQEENYKSEVNSKPRK
X:125955478-125955478 G>A	0.0	2369	MELANOMA	-	-	-	-	PRR32	uc010nra.3,p.G286E|NM_001122716,p.G286E|ENST00000371125,p.G286E	protein_coding	uc010nra.3	nonsynonymous SNV	exon2	c.G857A	p.G286E	PLPSYFAHFHSGGMPAPASPNREHS	PLPSYFAHFHSGEMPAPASPNREHS	1.0	10.0	unscreened	-	2369_X:125955478-125955478 G>A_PLPSYFAHFHSGEMPAPASPNREHS
4:70346567-70346567 C>T	0.0	2369	MELANOMA	-	-	-	-	UGT2B4	uc011cap.2,p.D322N|NM_021139,p.D458N|NM_001297616,p.D322N|ENST00000381096,p.D322N|uc003hek.4,p.D458N|ENST00000305107,p.D458N	protein_coding, processed_transcript	uc011cap.2	nonsynonymous SNV	exon7	c.G964A	p.D322N	SRIHHDQPVKPLDRAVFWIEFVMRH	SRIHHDQPVKPLNRAVFWIEFVMRH	1.0	7.0	unscreened	-	2369_4:70346567-70346567 C>T_SRIHHDQPVKPLNRAVFWIEFVMRH
5:140502436-140502436 G>A	0.0	2369	MELANOMA	-	-	-	-	PCDHB4	uc003lip.1,p.E286K|NM_018938,p.E286K|ENST00000194152,p.E286K	protein_coding	uc003lip.1	nonsynonymous SNV	exon1	c.G856A	p.E286K	GSVSYGLFQASDEIKQTFSINEVTG	GSVSYGLFQASDKIKQTFSINEVTG	3.0	10.0	unscreened	-	2369_5:140502436-140502436 G>A_GSVSYGLFQASDKIKQTFSINEVTG
15:102462761-102462761 C>T	0.0	2369	MELANOMA	-	-	-	-	OR4F4	ENST00000326183,p.D168N|uc002cdf.1,p.D168N|NM_001004195,p.D168N	protein_coding	uc002cdf.1	nonsynonymous SNV	exon1	c.G502A	p.D168N	AVHLPFCGPNEVDSFYCDLPRVIKL	AVHLPFCGPNEVNSFYCDLPRVIKL	1.0	1.0	unscreened	-	2369_15:102462761-102462761 C>T_AVHLPFCGPNEVNSFYCDLPRVIKL
19:111180-111180 G>A	0.0	2369	MELANOMA	-	-	-	-	OR4F17	uc002lob.1,p.D168N|uc002loc.1,p.D168N|NM_001005240,p.D168N|ENST00000585993,p.D168N|ENST00000318050,p.D168N	protein_coding	uc002loc.1	nonsynonymous SNV	exon1	c.G502A	p.D168N	AVHLPFCGPNEVDSFYCDLPRVIKL	AVHLPFCGPNEVNSFYCDLPRVIKL	1.0	1.0	unscreened	-	2369_19:111180-111180 G>A_AVHLPFCGPNEVNSFYCDLPRVIKL
19:5700824-5700824 C>T	1.0	2369	MELANOMA	-	-	-	-	LONP1	NM_004793,p.M494I|uc002mcx.4,p.M494I|uc031riz.1,p.M364I|NM_001276479,p.M430I|ENST00000540670,p.M298I|NM_001276480,p.M298I|ENST00000590729,p.M364I|uc031rja.1,p.M428I|ENST00000360614,p.M494I|uc010duh.4,p.M235I|uc002mcy.3,p.M430I|ENST00000585374,p.M380I|ENST00000593119,p.M430I|uc002mcz.3,p.M298I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rja.1	nonsynonymous SNV	exon10	c.G1284A	p.M428I	RAQAVLEEDHYGMEDVKKRILEFIA	RAQAVLEEDHYGIEDVKKRILEFIA	9.0	10.0	unscreened	-	2369_19:5700824-5700824 C>T_RAQAVLEEDHYGIEDVKKRILEFIA
7:82584463-82584463 C>T	0.0	2369	MELANOMA	-	-	-	-	PCLO	ENST00000423517,p.E1936K|uc003uhx.2,p.E1936K|ENST00000333891,p.E1936K|NM_014510,p.E1936K|uc003uhv.2,p.E1936K|NM_033026,p.E1936K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon5	c.G5806A	p.E1936K	KTHKYKAFPAANERDEVFEKEPLYG	KTHKYKAFPAANKRDEVFEKEPLYG	10.0	5.0	-	-	2369_7:82584463-82584463 C>T_KTHKYKAFPAANKRDEVFEKEPLYG
19:9021107-9021107 C>G	0.0	2369	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.G12406R|uc002mkp.3,p.G12406R|NM_024690,p.G12406R	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon19	c.G37216C	p.G12406R	FTITNLQYGEDMGHPGSRKFNTTER	FTITNLQYGEDMRHPGSRKFNTTER	1.0	2.0	unscreened	-	2369_19:9021107-9021107 C>G_FTITNLQYGEDMRHPGSRKFNTTER
12:91539938-91539938 C>T	0.0	2369	MELANOMA	-	-	-	-	DCN	uc001tbq.3,p.G139D|uc001tbu.3,p.G326D|uc001tbp.3,p.G179D|NM_133504,p.G217D|NM_001920,p.G326D|ENST00000552962,p.G326D|NM_133506,p.G139D|ENST00000420120,p.G217D|ENST00000547568,p.G179D|ENST00000303320,p.G139D|ENST00000052754,p.G326D|NM_133505,p.G179D|NM_133503,p.G326D|ENST00000228329,p.G217D|ENST00000425043,p.G179D|ENST00000441303,p.G139D|uc001tbo.3,p.G217D|uc001tbt.3,p.G326D|ENST00000393155,p.G326D	protein_coding, processed_transcript	uc001tbu.3	nonsynonymous SNV	exon8	c.G977A	p.G326D	PPGHNTKKASYSGVSLFSNPVQYWE	PPGHNTKKASYSDVSLFSNPVQYWE	4.0	9.0	unscreened	-	2369_12:91539938-91539938 C>T_PPGHNTKKASYSDVSLFSNPVQYWE
5:64587283-64587283 G>A	1.0	2369	MELANOMA	-	-	-	-	ADAMTS6	uc003jto.4,p.T18I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jto.4	nonsynonymous SNV	exon11	c.C53T	p.T18I	VFRRRLCSSGRGTCLDNEPPKRDFL	VFRRRLCSSGRGICLDNEPPKRDFL	4.0	10.0	unscreened	-	2369_5:64587283-64587283 G>A_VFRRRLCSSGRGICLDNEPPKRDFL
1:145368473-145368473 G>C	1.0	2369	MELANOMA	-	rs1043749	-	-	NBPF9	uc010oye.3,p.R843P|uc010oyl.3,p.R200P|ENST00000369338,p.R600P|uc010oyi.3,p.R412P|uc010oyj.3,p.R200P|ENST00000342960,p.R3484P|ENST00000369339,p.R602P|uc021oul.2,p.R3484P	protein_coding, processed_transcript	uc021oul.2	nonsynonymous SNV	exon84	c.G10451C	p.R3484P	PRLNGVLMEVEEREVLQDSLDRCYS	PRLNGVLMEVEEPEVLQDSLDRCYS	7.0	1.0	unscreened	-	2369_1:145368473-145368473 G>C_PRLNGVLMEVEEPEVLQDSLDRCYS
4:103832665-103832665 T>C	0.0	2369	MELANOMA	-	-	-	-	SLC9B1	ENST00000394789,p.I287V|ENST00000296422,p.I287V|uc003hwu.3,p.I287V|uc003hww.3,p.I287V|ENST00000514340,p.I230V|NM_001100874,p.I287V|uc010ilm.3,p.I54V|NM_139173,p.I287V	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ilm.3	nonsynonymous SNV	exon7	c.A160G	p.I54V	SSGGILNNAIASIRNVCISLLAGIV	SSGGILNNAIASVRNVCISLLAGIV	3.0	2.0	unscreened	-	2369_4:103832665-103832665 T>C_SSGGILNNAIASVRNVCISLLAGIV
4:103832665-103832665 T>C	0.0	2369	MELANOMA	-	-	-	-	SLC9B1	uc011cev.2,p.I60V	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cev.2	nonsynonymous SNV	exon5	c.A178G	p.I60V	TTGGILNNAIASIRNVCISLLAGIV	TTGGILNNAIASVRNVCISLLAGIV	3.0	2.0	unscreened	-	2369_4:103832665-103832665 T>C_TTGGILNNAIASVRNVCISLLAGIV
21:46101773-46101773 G>A	0.0	2369	MELANOMA	-	-	-	-	KRTAP12-1	NM_181686,p.S89F|uc002zfv.3,p.S89F|ENST00000391617,p.S89F	protein_coding	uc002zfv.3	nonsynonymous SNV	exon1	c.C266T	p.S89F	QPSCTSVLCRPISCSTPSCC	QPSCTSVLCRPIFCSTPSCC	1.0	4.0	unscreened	-	2369_21:46101773-46101773 G>A_QPSCTSVLCRPIFCSTPSCC
10:129902045-129902045 C>T	1.0	2369	MELANOMA	-	-	-	-	MKI67	uc001lkf.3,p.E2327K|ENST00000368653,p.E2327K|ENST00000368654,p.E2687K|uc009yav.1,p.E2262K|uc009yaw.1,p.E1837K|uc001lke.3,p.E2687K|NM_001145966,p.E2327K|NM_002417,p.E2687K	protein_coding, processed_transcript	uc009yaw.1	nonsynonymous SNV	exon2	c.G5509A	p.E1837K	PLEDLAGFTELSETSGHTQESLTAG	PLEDLAGFTELSKTSGHTQESLTAG	7.0	10.0	-	-	2369_10:129902045-129902045 C>T_PLEDLAGFTELSKTSGHTQESLTAG
12:53009083-53009083 C>T	0.0	2369	MELANOMA	-	-	-	-	KRT73	NM_175068,p.E235K|uc001sas.3,p.E235K|ENST00000305748,p.E235K	retained_intron, protein_coding	uc001sas.3	nonsynonymous SNV	exon3	c.G703A	p.E235K	EEEINKRTTAENEFVVLKKDVDAAY	EEEINKRTTAENKFVVLKKDVDAAY	1.0	10.0	unscreened	-	2369_12:53009083-53009083 C>T_EEEINKRTTAENKFVVLKKDVDAAY
X:35959411-35959411 C>T	0.0	2369	MELANOMA	-	-	-	-	CXorf22	ENST00000297866,p.S138F|NM_152632,p.S138F|ENST00000493930,p.S138F|uc004ddj.3,p.S138F	protein_coding, nonsense_mediated_decay	uc004ddj.3	nonsynonymous SNV	exon3	c.C413T	p.S138F	KTTEIPLIGLIPSCQLEIESVVNFG	KTTEIPLIGLIPFCQLEIESVVNFG	1.0	10.0	unscreened	-	2369_X:35959411-35959411 C>T_KTTEIPLIGLIPFCQLEIESVVNFG
19:56029095-56029095 C>T	0.0	2369	MELANOMA	-	-	-	-	SSC5D	uc002qlg.4,p.P1151L|NM_001144950,p.P1151L|ENST00000389623,p.P1151L	retained_intron, protein_coding	uc002qlg.4	nonsynonymous SNV	exon14	c.C3452T	p.P1151L	YSRSPDPSPSPHPTTTPDPTMAPDP	YSRSPDPSPSPHLTTTPDPTMAPDP	3.0	4.0	unscreened	-	2369_19:56029095-56029095 C>T_YSRSPDPSPSPHLTTTPDPTMAPDP
17:72929575-72929575 C>T	0.0	2369	MELANOMA	-	-	-	-	OTOP2	NM_178160,p.P542S|ENST00000580223,p.P542S|ENST00000331427,p.P542S|uc010wrp.2,p.P542S	retained_intron, protein_coding	uc010wrp.2	nonsynonymous SNV	exon7	c.C1624T	p.P542S	YSLWAVIVNICLPFGIFYRMHAVSS	YSLWAVIVNICLSFGIFYRMHAVSS	1.0	5.0	unscreened	-	2369_17:72929575-72929575 C>T_YSLWAVIVNICLSFGIFYRMHAVSS
4:23815998-23815998 C>T	1.0	2369	MELANOMA	-	-	-	-	PPARGC1A	uc031sdz.1,p.E358K|uc003gqs.3,p.E370K|uc031seb.1,p.E375K|NM_013261,p.E370K|ENST00000264867,p.E370K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031seb.1	nonsynonymous SNV	exon9	c.G1123A	p.E375K	LSKSSVLTGGHEERKTKRPSLRLFG	LSKSSVLTGGHEKRKTKRPSLRLFG	8.0	7.0	-	-	2369_4:23815998-23815998 C>T_LSKSSVLTGGHEKRKTKRPSLRLFG
11:124294619-124294619 C>T	0.0	2369	MELANOMA	-	-	-	-	OR8B4	uc010sak.2,p.G50E|NM_001005196,p.G50E|ENST00000356130,p.G50E	protein_coding	uc010sak.2	nonsynonymous SNV	exon1	c.G149A	p.G50E	TVVGNLGLITLIGINPSLHTPMYFF	TVVGNLGLITLIEINPSLHTPMYFF	1.0	3.0	unscreened	-	2369_11:124294619-124294619 C>T_TVVGNLGLITLIEINPSLHTPMYFF
16:70954982-70954982 G>A	0.0	2369	MELANOMA	-	-	-	-	HYDIN	ENST00000393567,p.P2433S|uc031qwy.1,p.P2433S|NM_001270974,p.P2433S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon46	c.C7297T	p.P2433S	KRNMGDVSMHGLPLVQDQEDSEGDN	KRNMGDVSMHGLSLVQDQEDSEGDN	4.0	9.0	unscreened	-	2369_16:70954982-70954982 G>A_KRNMGDVSMHGLSLVQDQEDSEGDN
11:128709403-128709403 G>A	0.0	2369	MELANOMA	-	-	-	-	KCNJ1	uc001qer.2,p.P246S|uc001qeq.2,p.P263S|ENST00000392665,p.P246S|ENST00000392664,p.P265S|ENST00000392666,p.P246S|ENST00000324036,p.P246S|NM_153767,p.P246S|uc001qep.2,p.P246S|uc001qeo.2,p.P265S|uc021qsb.1,p.P246S|NM_153764,p.P246S|NM_000220,p.P265S|NM_153765,p.P263S|uc001qes.2,p.P246S|ENST00000440599,p.P246S|NM_153766,p.P246S	retained_intron, protein_coding	uc021qsb.1	nonsynonymous SNV	exon1	c.C736T	p.P246S	VDAGNENLFFISPLTIYHVIDHNSP	VDAGNENLFFISSLTIYHVIDHNSP	1.0	8.0	unscreened	-	2369_11:128709403-128709403 G>A_VDAGNENLFFISSLTIYHVIDHNSP
19:24115813-24115813 G>T	0.0	2369	MELANOMA	-	-	-	-	ZNF726	ENST00000594466,p.A299S|uc021urw.1,p.A299S|ENST00000322487,p.A299S|NM_001244038,p.A299S	protein_coding	uc021urw.1	nonsynonymous SNV	exon4	c.G895T	p.A299S	CEECGKAFSQPSALTIHKRMHIGEK	CEECGKAFSQPSSLTIHKRMHIGEK	4.0	1.0	unscreened	-	2369_19:24115813-24115813 G>T_CEECGKAFSQPSSLTIHKRMHIGEK
14:86089188-86089188 C>T	0.0	2369	MELANOMA	-	-	-	-	FLRT2	ENST00000554746,p.L444F|uc001xvr.3,p.L444F|uc010atd.3,p.L444F|uc021rxf.1,p.L444F|ENST00000330753,p.L444F|NM_013231,p.L444F	retained_intron, protein_coding, processed_transcript	uc021rxf.1	nonsynonymous SNV	exon1	c.C1330T	p.L444F	VNDTSIQVSWLSLFTVMAYKLTWVK	VNDTSIQVSWLSFFTVMAYKLTWVK	1.0	3.0	unscreened	-	2369_14:86089188-86089188 C>T_VNDTSIQVSWLSFFTVMAYKLTWVK
3:26751819-26751819 C>T	0.0	2369	MELANOMA	-	-	-	-	LRRC3B	uc021wuj.1,p.S219L|uc031rys.1,p.S219L|uc003cdq.3,p.S219L|uc003cdp.3,p.S219L|ENST00000396641,p.S219L|NM_052953,p.S219L|ENST00000456208,p.S219L|ENST00000417744,p.S219L	protein_coding, processed_transcript	uc031rys.1	nonsynonymous SNV	exon3	c.C656T	p.S219L	LVTMFGWFTMVISYVVYYVRQNQED	LVTMFGWFTMVILYVVYYVRQNQED	1.0	6.0	unscreened	-	2369_3:26751819-26751819 C>T_LVTMFGWFTMVILYVVYYVRQNQED
2:137814319-137814319 G>A	0.0	2369	MELANOMA	-	-	-	-	THSD7B	ENST00000272643,p.E157K|ENST00000543459,p.E16K|ENST00000413152,p.E126K|uc002tvb.3,p.E16K|ENST00000409968,p.E157K|uc002tva.1,p.E126K	retained_intron, protein_coding, processed_transcript	uc002tvb.3	nonsynonymous SNV	exon1	c.G46A	p.E16K	CIQKLNRTVVANEICEHFALQPPTE	CIQKLNRTVVANKICEHFALQPPTE	1.0	8.0	unscreened	-	2369_2:137814319-137814319 G>A_CIQKLNRTVVANKICEHFALQPPTE
1:172501615-172501615 G>A	0.0	2369	MELANOMA	-	-	-	-	SUCO	NM_016227,p.M1I|ENST00000367723,p.M1I	protein_coding, processed_transcript	NM_016227	nonsynonymous SNV	exon1	c.G3A	p.M1I	MRGFLARPFLSTN	IRGFLARPFLSTN	8.0	4.0	unscreened	-	2369_1:172501615-172501615 G>A_IRGFLARPFLSTN
14:81251256-81251256 G>A	0.0	2369	MELANOMA	-	-	-	-	CEP128	NM_152446,p.H732Y|ENST00000555265,p.H732Y|uc001xux.2,p.H732Y|uc031qpo.1,p.H759Y|ENST00000281129,p.H732Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qpo.1	nonsynonymous SNV	exon16	c.C2275T	p.H759Y	KHFKKEKSEAENHIRTLKAESLEEK	KHFKKEKSEAENYIRTLKAESLEEK	4.0	9.0	unscreened	-	2369_14:81251256-81251256 G>A_KHFKKEKSEAENYIRTLKAESLEEK
17:62892159-62892159 G>T	0.0	2369	MELANOMA	-	rs17857225	-	-	LRRC37A3	uc031rdv.1,p.A406D|uc031rdr.1,p.A406D|uc031rdq.1,p.A406D|uc031rds.1,p.A406D|uc031rdx.1,p.A406D|NM_199340,p.A406D|uc031rec.1,p.A406D|uc031rea.1,p.A406D|uc031rdu.1,p.A406D|uc031rdp.1,p.A406D|ENST00000584306,p.A406D|uc031red.1,p.A406D|uc031rdy.1,p.A406D|uc031rdw.1,p.A406D|uc031rdt.1,p.A406D|uc031reb.1,p.A406D|uc010dek.2,p.A406D|ENST00000319651,p.A406D|uc002jey.2,p.A406D|uc031rdz.1,p.A406D	protein_coding, processed_transcript	uc031red.1	nonsynonymous SNV	exon1	c.C1217A	p.A406D	VSPPGHHQTHHLASPSVSVKPPDVQ	VSPPGHHQTHHLDSPSVSVKPPDVQ	5.0	2.0	unscreened	-	2369_17:62892159-62892159 G>T_VSPPGHHQTHHLDSPSVSVKPPDVQ
7:131982927-131982927 C>T	0.0	2369	MELANOMA	-	-	-	-	PLXNA4	uc003vra.4,p.V476M|ENST00000321063,p.V476M|NM_020911,p.V476M|ENST00000359827,p.V476M	retained_intron, protein_coding	uc003vra.4	nonsynonymous SNV	exon4	c.G1426A	p.V476M	RGNALQYETVQVVDPGPVLRDMAFS	RGNALQYETVQVMDPGPVLRDMAFS	1.0	9.0	unscreened	-	2369_7:131982927-131982927 C>T_RGNALQYETVQVMDPGPVLRDMAFS
2:179597824-179597824 G>A	0.0	2369	MELANOMA	-	-	-	-	TTN	NM_001267550,p.T5360I|uc031rqc.1,p.T5360I|ENST00000589042,p.T5360I|NM_001256850,p.T5043I|uc002umz.1,p.T777I|uc021vsy.2,p.T4116I|ENST00000591111,p.T5043I|uc031rqd.1,p.T5043I|NM_133378,p.T4116I|ENST00000342992,p.T4116I	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon53	c.C15128T	p.T5043I	FTVLDRDIAPFFTKPLRNVDSVVNG	FTVLDRDIAPFFIKPLRNVDSVVNG	3.0	7.0	unscreened	-	2369_2:179597824-179597824 G>A_FTVLDRDIAPFFIKPLRNVDSVVNG
3:195507385-195507385 G>A	0.0	2369	MELANOMA	-	-	-	2	MUC4	ENST00000475231,p.A3689V|ENST00000463781,p.A3689V|ENST00000478156,p.A3689V|ENST00000462323,p.A3689V|ENST00000479406,p.A3689V|ENST00000477086,p.A3689V|uc021xjp.1,p.A3689V|ENST00000477756,p.A3689V|ENST00000480843,p.A3689V|ENST00000466475,p.A3689V|NM_018406,p.A3689V|ENST00000470451,p.A3689V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C11066T	p.A3689V	DTTRLPVTDTSSASTGQATPLPVTI	DTTRLPVTDTSSVSTGQATPLPVTI	1.0	2.0	unscreened	-	2369_3:195507385-195507385 G>A_DTTRLPVTDTSSVSTGQATPLPVTI
2:219920509-219920509 G>A	0.0	2369	MELANOMA	-	-	-	-	IHH	ENST00000295731,p.A219V|NM_002181,p.A219V|uc002vjo.2,p.A219V	protein_coding	uc002vjo.2	nonsynonymous SNV	exon3	c.C656T	p.A219V	GAQVRLESGARVALSAVRPGDRVLA	GAQVRLESGARVVLSAVRPGDRVLA	1.0	2.0	unscreened	-	2369_2:219920509-219920509 G>A_GAQVRLESGARVVLSAVRPGDRVLA
1:13365921-13365921 A>G	0.0	2369	MELANOMA	-	rs199562274	-	-	LOC101929983,PRAMEF5,PRAMEF6	ENST00000376168,p.H122R|NM_001013407,p.H122R	protein_coding	NM_001013407	nonsynonymous SNV	exon3	c.A365G	p.H122R	ENFWMVWSEAMAHGCFLNAKRNKKP	ENFWMVWSEAMARGCFLNAKRNKKP	1.0	1.0	unscreened	-	2369_1:13365921-13365921 A>G_ENFWMVWSEAMARGCFLNAKRNKKP
11:124056721-124056721 C>T	0.0	2369	MELANOMA	-	-	-	-	VWA5A,OR8G2	uc001pzv.2,p.L249F|ENST00000318666,p.L249F	protein_coding	uc001pzv.2	nonsynonymous SNV	exon1	c.C745T	p.L249F	AFSTCSAHLIAILCAYGPIITVYLQ	AFSTCSAHLIAIFCAYGPIITVYLQ	1.0	3.0	-	-	2369_11:124056721-124056721 C>T_AFSTCSAHLIAIFCAYGPIITVYLQ
X:106843875-106843875 G>A	0.0	2369	MELANOMA	-	-	-	-	FRMPD3	NM_032428,p.G902E|ENST00000276185,p.G902E|ENST00000439554,p.G850E	protein_coding, processed_transcript	NM_032428	nonsynonymous SNV	exon16	c.G2705A	p.G902E	RRKLPQSEGQVQGERTYSLAVHPAL	RRKLPQSEGQVQEERTYSLAVHPAL	1.0	10.0	-	-	2369_X:106843875-106843875 G>A_RRKLPQSEGQVQEERTYSLAVHPAL
4:103832650-103832650 T>A	0.0	2369	MELANOMA	-	-	-	-	SLC9B1	uc011cev.2,p.I65F|ENST00000394789,p.I292F|ENST00000296422,p.I292F|NM_139173,p.I292F|uc010ilm.3,p.I59F|uc003hww.3,p.I292F|ENST00000514340,p.I235F|NM_001100874,p.I292F|ENST00000511253,p.I17F|uc003hwu.3,p.I292F	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cev.2	nonsynonymous SNV	exon5	c.A193T	p.I65F	LNNAIASIRNVCISLLAGIVLGFFV	LNNAIASIRNVCFSLLAGIVLGFFV	3.0	2.0	unscreened	-	2369_4:103832650-103832650 T>A_LNNAIASIRNVCFSLLAGIVLGFFV
1:248651927-248651927 A>G	0.0	2369	MELANOMA	-	rs201060805	-	-	OR2T5	ENST00000366473,p.K13R|uc001iem.1,p.K13R|NM_001004697,p.K13R	protein_coding	uc001iem.1	nonsynonymous SNV	exon1	c.A38G	p.K13R	MANITRMANHTGKLDFILMGLFRRS	MANITRMANHTGRLDFILMGLFRRS	1.0	2.0	unscreened	-	2369_1:248651927-248651927 A>G_MANITRMANHTGRLDFILMGLFRRS
11:6913437-6913437 C>T	0.0	2369	MELANOMA	-	-	-	-	OR2D2	uc010rau.2,p.A99T|NM_003700,p.A99T|ENST00000299459,p.A99T	protein_coding	uc010rau.2	nonsynonymous SNV	exon1	c.G295A	p.A99T	SRKKVIAFTLCAARLLFFLIFGCTQ	SRKKVIAFTLCATRLLFFLIFGCTQ	1.0	9.0	unscreened	-	2369_11:6913437-6913437 C>T_SRKKVIAFTLCATRLLFFLIFGCTQ
1:248813785-248813785 A>T	0.0	2369	MELANOMA	-	rs200036975	-	-	OR2T27	uc010pzo.2,p.V134D|ENST00000344889,p.V134D|NM_001001824,p.V134D	protein_coding	uc010pzo.2	nonsynonymous SNV	exon1	c.T401A	p.V134D	RYVAICNPLHYPVLMSRKICWLIVA	RYVAICNPLHYPDLMSRKICWLIVA	1.0	2.0	unscreened	-	2369_1:248813785-248813785 A>T_RYVAICNPLHYPDLMSRKICWLIVA
15:40558161-40558161 G>A	0.0	2369	MELANOMA	-	-	-	-	PAK6	uc010bbl.3,p.R108Q|ENST00000560346,p.R108Q|uc001zky.4,p.R108Q|uc001zlb.3,p.R108Q|ENST00000560669,p.R108Q|NM_020168,p.R108Q|NM_001128628,p.R108Q|uc010bbn.4,p.R108Q|NM_001276717,p.R108Q|ENST00000441369,p.R108Q|NM_001276718,p.R108Q|ENST00000453867,p.R108Q|ENST00000260404,p.R108Q|ENST00000455577,p.R108Q|ENST00000558106,p.R108Q|ENST00000558055,p.R108Q|NM_001128629,p.R108Q|uc010bbm.3,p.R108Q|ENST00000542403,p.R108Q	retained_intron, protein_coding, processed_transcript	uc010bbn.4	nonsynonymous SNV	exon5	c.G323A	p.R108Q	SSNTLRGRSPTSRRRAQSLGLLGDE	SSNTLRGRSPTSQRRAQSLGLLGDE	3.0	5.0	unscreened	-	2369_15:40558161-40558161 G>A_SSNTLRGRSPTSQRRAQSLGLLGDE
3:105268974-105268974 G>A	0.0	2369	MELANOMA	-	-	-	-	ALCAM	uc010hpp.3,p.E182K|ENST00000389927,p.E182K|ENST00000472644,p.E460K|NM_001243280,p.E460K|uc003dvz.3,p.E94K|uc003dvw.2,p.E460K|NM_001243281,p.E460K|ENST00000486979,p.E409K|ENST00000306107,p.E460K|uc003dvx.3,p.E460K|uc003dvy.3,p.E460K|NM_001627,p.E460K	retained_intron, protein_coding, processed_transcript	uc010hpp.3	nonsynonymous SNV	exon6	c.G544A	p.E182K	TITGSGSVINQTEESPYINGRYYSK	TITGSGSVINQTKESPYINGRYYSK	8.0	7.0	-	-	2369_3:105268974-105268974 G>A_TITGSGSVINQTKESPYINGRYYSK
4:69535692-69535692 C>T	0.0	2369	MELANOMA	-	-	-	-	UGT2B15	ENST00000338206,p.M215I|NM_001076,p.M215I|uc021xow.1,p.M215I	protein_coding	uc021xow.1	nonsynonymous SNV	exon1	c.G645A	p.M215I	SDQMIFMERIKNMIHMLYFDFWFQI	SDQMIFMERIKNIIHMLYFDFWFQI	1.0	8.0	unscreened	-	2369_4:69535692-69535692 C>T_SDQMIFMERIKNIIHMLYFDFWFQI
14:106387039-106387039 G>A	0.0	2369	MELANOMA	-	-	-	-	KIAA0125	uc001ysq.3,p.E30K|ENST00000429431,p.E30K|ENST00000449410,p.E30K|uc001ysr.3,p.E30K	protein_coding, processed_transcript	uc001ysr.3	nonsynonymous SNV	exon2	c.G88A	p.E30K	PQETHGHRERTEEGCAVAAFSADAL	PQETHGHRERTEKGCAVAAFSADAL	1.0	1.0	unscreened	-	2369_14:106387039-106387039 G>A_PQETHGHRERTEKGCAVAAFSADAL
2:202523230-202523230 A>G	0.0	2369	MELANOMA	-	-	-	-	MPP4	uc002uyj.4,p.F332L	retained_intron, protein_coding, nonsense_mediated_decay	uc002uyj.4	nonsynonymous SNV	exon13	c.T994C	p.F332L	ADEETFESDKEEFVGYGQKFFIAGF	ADEETFESDKEELVGYGQKFFIAGF	1.0	4.0	unscreened	-	2369_2:202523230-202523230 A>G_ADEETFESDKEELVGYGQKFFIAGF
2:202523230-202523230 A>G	0.0	2369	MELANOMA	-	-	-	-	MPP4	ENST00000428900,p.F343L|uc010zhr.2,p.F343L	retained_intron, protein_coding, nonsense_mediated_decay	uc010zhr.2	nonsynonymous SNV	exon13	c.T1027C	p.F343L	LYEETFESDKEEFVGYGQKFFIAGF	LYEETFESDKEELVGYGQKFFIAGF	1.0	4.0	unscreened	-	2369_2:202523230-202523230 A>G_LYEETFESDKEELVGYGQKFFIAGF
7:142836204-142836204 G>A	0.0	2369	MELANOMA	-	-	-	-	PIP	ENST00000291009,p.G80S|NM_002652,p.G80S|uc003wcf.1,p.G80S	protein_coding	uc003wcf.1	nonsynonymous SNV	exon3	c.G238A	p.G80S	VKTYLISSIPLQGAFNYKYTACLCD	VKTYLISSIPLQSAFNYKYTACLCD	3.0	7.0	unscreened	-	2369_7:142836204-142836204 G>A_VKTYLISSIPLQSAFNYKYTACLCD
X:3241777-3241777 C>T	0.0	2369	MELANOMA	-	-	-	-	MXRA5	uc004crg.4,p.R650K|NM_015419,p.R650K|ENST00000217939,p.R650K	protein_coding	uc004crg.4	nonsynonymous SNV	exon5	c.G1949A	p.R650K	IPKVQVSDSGYYRCVAVNQQGADHF	IPKVQVSDSGYYKCVAVNQQGADHF	1.0	10.0	unscreened	-	2369_X:3241777-3241777 C>T_IPKVQVSDSGYYKCVAVNQQGADHF
15:86278850-86278850 G>A	1.0	2369	MELANOMA	-	-	-	-	AKAP13	ENST00000394518,p.G2501S|uc002blv.2,p.G2501S|uc002blx.2,p.G746S|uc031qtl.1,p.G1122S|NM_006738,p.G2505S|ENST00000394510,p.G746S|uc002blw.2,p.G966S|ENST00000361243,p.G2505S|NM_001270546,p.G1122S|uc002blu.2,p.G2505S|NM_007200,p.G2501S	retained_intron, protein_coding, processed_transcript	uc031qtl.1	nonsynonymous SNV	exon24	c.G3364A	p.G1122S	DGQDLRRTESDSGLKKGGNANLVFM	DGQDLRRTESDSSLKKGGNANLVFM	8.0	6.0	-	-	2369_15:86278850-86278850 G>A_DGQDLRRTESDSSLKKGGNANLVFM
19:54823823-54823823 C>T	0.0	2369	MELANOMA	-	-	-	-	LILRA5	uc010yew.2,p.M24I|ENST00000446712,p.M24I|NM_181985,p.M24I|ENST00000346508,p.M24I|uc002qfh.1,p.M24I|NM_181986,p.M24I|uc002qff.3,p.M24I	retained_intron, protein_coding	uc010yew.2	nonsynonymous SNV	exon2	c.G72A	p.M24I	QPVGGDAVSPALMVLLCLGNLSKAT	QPVGGDAVSPALIVLLCLGNLSKAT	1.0	7.0	unscreened	-	2369_19:54823823-54823823 C>T_QPVGGDAVSPALIVLLCLGNLSKAT
8:105257282-105257282 G>A	0.0	2369	MELANOMA	-	-	ID=COSM231164,COSM231165;OCCURENCE=1(skin)	-	RIMS2	ENST00000339750,p.G94E|uc003ylr.3,p.G997E|NM_001282882,p.G94E|ENST00000523362,p.G94E|uc003ylp.3,p.G1158E|NM_014677,p.G972E|ENST00000262231,p.G997E|uc003yls.3,p.G1176E|ENST00000406091,p.G1158E|ENST00000436393,p.G1176E|uc003ylq.3,p.G972E|NM_001100117,p.G1158E|ENST00000408894,p.G1165E|uc003ylw.2,p.G1165E|ENST00000507740,p.G972E|NM_001282881,p.G997E	retained_intron, protein_coding, processed_transcript	uc003ylw.2	nonsynonymous SNV	exon23	c.G3494A	p.G1165E	STDGSMNSYSSEGNLIFPGVRLASD	STDGSMNSYSSEENLIFPGVRLASD	3.0	5.0	unscreened	-	2369_8:105257282-105257282 G>A_STDGSMNSYSSEENLIFPGVRLASD
10:25279466-25279466 G>A	1.0	2369	MELANOMA	-	-	ID=COSM1721874;OCCURENCE=2(NS)	-	ENKUR	NM_001270383,p.R112C|ENST00000483339,p.R78C|uc001isg.2,p.R174C|ENST00000496261,p.R174C|NM_145010,p.R174C|ENST00000376363,p.R174C|uc001ish.2,p.R112C|ENST00000331161,p.R174C	protein_coding, nonsense_mediated_decay	uc001ish.2	nonsynonymous SNV	exon4	c.C334T	p.R112C	NEEIKKAQEDYDRYIQENLKKAAMK	NEEIKKAQEDYDCYIQENLKKAAMK	4.0	10.0	unscreened	-	2369_10:25279466-25279466 G>A_NEEIKKAQEDYDCYIQENLKKAAMK
8:18257614-18257614 C>T	0.0	2369	MELANOMA	-	-	-	-	NAT2	uc003wyw.1,p.A34V|ENST00000286479,p.A34V|NM_000015,p.A34V|uc022asl.1,p.A34V	protein_coding	uc022asl.1	nonsynonymous SNV	exon1	c.C101T	p.A34V	ETLTDILEHQIRAVPFENLNMHCGQ	ETLTDILEHQIRVVPFENLNMHCGQ	1.0	8.0	unscreened	-	2369_8:18257614-18257614 C>T_ETLTDILEHQIRVVPFENLNMHCGQ
7:128587352-128587381 ACTCTGCAGCCGCCCACTCTGCGGCCGCCT>-	0.0	2369	MELANOMA	0.45	-	ID=COSM329668;OCCURENCE=1(breast),2(urinary_tract),2(ovary),2(endometrium),1(haematopoietic_and_lymphoid_tissue)	-	IRF5	uc010llu.1,p.156_166del|uc010lls.1,p.156_166del|uc010llr.1,p.156_166del|uc010llw.1,p.156_166del	retained_intron, protein_coding, nonsense_mediated_decay	uc010llw.1	nonframeshift deletion	exon4	c.468_497del	p.156_166del	EEEEEERMSSGRPLCSRPLCGRLLC	EEEEEERMSSGRPLCSRPLCSRPWC	5.0	3.0	unscreened	-	2369_7:128587352-128587381 ACTCTGCAGCCGCCCACTCTGCGGCCGCCT>-_EEEEEERMSSGRPLCSRPLCSRPWC
7:128587352-128587381 ACTCTGCAGCCGCCCACTCTGCGGCCGCCT>-	0.0	2369	MELANOMA	0.45	-	ID=COSM329668;OCCURENCE=1(breast),2(urinary_tract),2(ovary),2(endometrium),1(haematopoietic_and_lymphoid_tissue)	-	IRF5	uc003voj.4,p.168_177del|uc003voi.3,p.168_177del|ENST00000249375,p.168_177del|NM_001098630,p.168_177del|uc003voh.3,p.168_177del|NM_032643,p.168_177del|ENST00000402030,p.168_177del|NM_001098627,p.168_177del|ENST00000473745,p.168_177del	retained_intron, protein_coding, nonsense_mediated_decay	uc003voj.4	nonframeshift deletion	exon6	c.502_531del	p.168_177del	SLSLTEDVKWPPTLQPPTLRPPTLQ	SLSLTEDVKWPPTLQPPTLQPPVVL	5.0	3.0	unscreened	-	2369_7:128587352-128587381 ACTCTGCAGCCGCCCACTCTGCGGCCGCCT>-_SLSLTEDVKWPPTLQPPTLQPPVVL
7:128587352-128587381 ACTCTGCAGCCGCCCACTCTGCGGCCGCCT>-	0.0	2369	MELANOMA	0.45	-	ID=COSM329668;OCCURENCE=1(breast),2(urinary_tract),2(ovary),2(endometrium),1(haematopoietic_and_lymphoid_tissue)	-	IRF5	ENST00000357234,p.184_193del|NM_001098629,p.184_193del|uc003vog.3,p.184_193del	retained_intron, protein_coding, nonsense_mediated_decay	uc003vog.3	nonframeshift deletion	exon6	c.550_579del	p.184_193del	YSLLKEDVKWPPTLQPPTLRPPTLQ	YSLLKEDVKWPPTLQPPTLQPPVVL	5.0	3.0	unscreened	-	2369_7:128587352-128587381 ACTCTGCAGCCGCCCACTCTGCGGCCGCCT>-_YSLLKEDVKWPPTLQPPTLQPPVVL
8:101721817-101721817 T>C	0.0	2369	MELANOMA	-	-	-	2	PABPC1	uc003yjs.1,p.E372G|NM_002568,p.E372G|uc011lhc.1,p.E340G|uc011lhd.1,p.E327G|ENST00000318607,p.E372G|ENST00000519004,p.E327G|uc003yjt.1,p.E369G|ENST00000522387,p.E340G	retained_intron, protein_coding, nonsense_mediated_decay	uc011lhd.1	nonsynonymous SNV	exon9	c.A980G	p.E327G	TKPLYVALAQRKEERQAHLTNQYMQ	TKPLYVALAQRKGERQAHLTNQYMQ	10.0	1.0	unscreened	-	2369_8:101721817-101721817 T>C_TKPLYVALAQRKGERQAHLTNQYMQ
8:133771092-133771092 C>T	0.0	2369	MELANOMA	-	-	-	-	TMEM71	NM_001145153,p.V12I|NM_144649,p.V12I|uc003yto.3,p.V12I|ENST00000519304,p.V12I|ENST00000523829,p.V12I|ENST00000377901,p.V12I|ENST00000356838,p.V12I|ENST00000519187,p.V12I|uc003ytn.3,p.V12I	retained_intron, protein_coding, processed_transcript	uc003yto.3	nonsynonymous SNV	exon2	c.G34A	p.V12I	MYRISQLMSTPVASSSRLEREYAG	MYRISQLMSTPIASSSRLEREYAG	1.0	2.0	unscreened	-	2369_8:133771092-133771092 C>T_MYRISQLMSTPIASSSRLEREYAG
8:133900232-133900232 C>T	0.0	2369	MELANOMA	-	-	-	-	TG	NM_003235,p.P727L|ENST00000220616,p.P727L|uc003ytw.3,p.P727L|ENST00000377869,p.P727L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ytw.3	nonsynonymous SNV	exon10	c.C2180T	p.P727L	GTRSAIGKPKKCPTPCQLQSEQAFL	GTRSAIGKPKKCLTPCQLQSEQAFL	1.0	5.0	unscreened	-	2369_8:133900232-133900232 C>T_GTRSAIGKPKKCLTPCQLQSEQAFL
3:97852053-97852053 C>T	0.0	2369	MELANOMA	-	-	-	-	OR5H1	ENST00000354565,p.S171F|NM_001005338,p.S171F|uc011bgt.2,p.S171F	protein_coding	uc011bgt.2	nonsynonymous SNV	exon1	c.C512T	p.S171F	HEGFLFRLTFCNSNIVHHIYCDTIP	HEGFLFRLTFCNFNIVHHIYCDTIP	1.0	7.0	unscreened	-	2369_3:97852053-97852053 C>T_HEGFLFRLTFCNFNIVHHIYCDTIP
11:5153739-5153739 G>A	0.0	2369	MELANOMA	-	-	ID=COSM1604661;OCCURENCE=2(liver)	-	OR52A5	ENST00000307388,p.S45F|uc010qyx.2,p.S45F|NM_001005160,p.S45F	protein_coding	uc010qyx.2	nonsynonymous SNV	exon1	c.C134T	p.S45F	FSAMYLIGVIGNSLILVIIKYENSL	FSAMYLIGVIGNFLILVIIKYENSL	1.0	3.0	unscreened	-	2369_11:5153739-5153739 G>A_FSAMYLIGVIGNFLILVIIKYENSL
15:78921974-78921974 C>T	0.0	2369	MELANOMA	-	-	ID=COSM965414;OCCURENCE=1(endometrium)	-	CHRNB4	ENST00000261751,p.D225N|uc010blh.1,p.D43N|NM_000750,p.D225N|uc002bed.1,p.D225N	protein_coding, nonsense_mediated_decay	uc010blh.1	nonsynonymous SNV	exon12	c.G127A	p.D43N	NPQDPSYVDVTYDFIIKRKPLFYTI	NPQDPSYVDVTYNFIIKRKPLFYTI	2.0	5.0	unscreened	-	2369_15:78921974-78921974 C>T_NPQDPSYVDVTYNFIIKRKPLFYTI
4:96761440-96761440 G>A	0.0	2369	MELANOMA	-	-	-	-	PDHA2	ENST00000295266,p.G47S|uc003htr.4,p.G47S|NM_005390,p.G47S	protein_coding	uc003htr.4	nonsynonymous SNV	exon1	c.G139A	p.G47S	EIKKCDLYLLEEGPPVTTVLTRAEG	EIKKCDLYLLEESPPVTTVLTRAEG	1.0	5.0	unscreened	-	2369_4:96761440-96761440 G>A_EIKKCDLYLLEESPPVTTVLTRAEG
7:100644027-100644027 C>A	0.0	2369	MELANOMA	-	rs140825627	-	-	MUC12	ENST00000379442,p.P3538T|NM_001164462,p.P3395T|ENST00000536621,p.P3395T|uc003uxo.3,p.P3395T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.C10183A	p.P3395T	HSSPGSTATTHFPDSSTTSGRSEES	HSSPGSTATTHFTDSSTTSGRSEES	2.0	1.0	unscreened	-	2369_7:100644027-100644027 C>A_HSSPGSTATTHFTDSSTTSGRSEES
3:195512798-195512798 C>G	0.0	2369	MELANOMA	-	-	-	2	MUC4	uc021xjp.1,p.D1885H|ENST00000479406,p.D1885H|ENST00000477756,p.D1885H|NM_018406,p.D1885H|ENST00000480843,p.D1885H|ENST00000462323,p.D1885H|ENST00000478156,p.D1885H|ENST00000463781,p.D1885H|ENST00000475231,p.D1885H|ENST00000477086,p.D1885H|ENST00000470451,p.D1885H|ENST00000466475,p.D1885H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G5653C	p.D1885H	LLVTDASSVSTGDTTPLPVTDTNSA	LLVTDASSVSTGHTTPLPVTDTNSA	1.0	1.0	unscreened	-	2369_3:195512798-195512798 C>G_LLVTDASSVSTGHTTPLPVTDTNSA
7:74193668-74193668 G>A	0.0	2369	MELANOMA	-	rs10614	-	-	NCF1	ENST00000289473,p.G99S|ENST00000433458,p.G99S|ENST00000442021,p.G106S|uc003ubb.3,p.G99S|uc010lbs.1,p.G99S	retained_intron, protein_coding, processed_transcript	uc010lbs.1	nonsynonymous SNV	exon4	c.G295A	p.G99S	AENRQGTLTEYCGTLMSLPTKISRC	AENRQGTLTEYCSTLMSLPTKISRC	1.0	3.0	unscreened	-	2369_7:74193668-74193668 G>A_AENRQGTLTEYCSTLMSLPTKISRC
17:15212003-15212003 A>C	0.0	2369	MELANOMA	-	-	-	-	TEKT3	ENST00000338696,p.C412G|ENST00000395930,p.C412G|NM_031898,p.C412G|uc002gon.3,p.C412G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gon.3	nonsynonymous SNV	exon8	c.T1234G	p.C412G	LDERTRRPNIELCRDMAQLRLVNEV	LDERTRRPNIELGRDMAQLRLVNEV	3.0	8.0	unscreened	-	2369_17:15212003-15212003 A>C_LDERTRRPNIELGRDMAQLRLVNEV
2:202523230-202523230 A>G	0.0	2369	MELANOMA	-	-	-	-	MPP4	ENST00000359962,p.F367L	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000359962	nonsynonymous SNV	exon16	c.T1099C	p.F367L	AESEELNSDKEEFVGYGQKFFIAGF	AESEELNSDKEELVGYGQKFFIAGF	1.0	4.0	unscreened	-	2369_2:202523230-202523230 A>G_AESEELNSDKEELVGYGQKFFIAGF
16:28354478-28354478 G>A	0.0	2369	MELANOMA	-	-	ID=COSM3402232,COSM3402233;OCCURENCE=1(central_nervous_system)	-	NPIPB6	uc010vcq.2,p.S225F|ENST00000532254,p.S243F|ENST00000533640,p.S225F|NM_001282524,p.S243F|uc010vcr.2,p.S243F	protein_coding	uc010vcr.2	nonsynonymous SNV	exon7	c.C728T	p.S243F	NWVRMVAAEHRHSSGLPYWPYLTAE	NWVRMVAAEHRHFSGLPYWPYLTAE	3.0	9.0	unscreened	-	2369_16:28354478-28354478 G>A_NWVRMVAAEHRHFSGLPYWPYLTAE
22:32797815-32797815 A>T	1.0	2369	MELANOMA	-	-	-	-	RTCB	ENST00000216038,p.V139E|uc003amm.2,p.V139E|NM_014306,p.V139E|ENST00000451746,p.V139E	retained_intron, protein_coding, processed_transcript	uc003amm.2	nonsynonymous SNV	exon5	c.T416A	p.V139E	LRTNLDESDVQPVKEQLAQAMFDHI	LRTNLDESDVQPEKEQLAQAMFDHI	10.0	5.0	-	-	2369_22:32797815-32797815 A>T_LRTNLDESDVQPEKEQLAQAMFDHI
3:195506254-195506254 T>G	0.0	2369	MELANOMA	-	-	-	2	MUC4	ENST00000466475,p.H4066P|ENST00000463781,p.H4066P|ENST00000470451,p.H4066P|ENST00000477756,p.H4066P|ENST00000477086,p.H4066P|uc021xjp.1,p.H4066P|ENST00000480843,p.H4066P|ENST00000475231,p.H4066P|ENST00000462323,p.H4066P|ENST00000478156,p.H4066P|ENST00000479406,p.H4066P|NM_018406,p.H4066P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.A12197C	p.H4066P	ASSLSTGHATPLHVTSPSSASRGDT	ASSLSTGHATPLPVTSPSSASRGDT	1.0	1.0	unscreened	-	2369_3:195506254-195506254 T>G_ASSLSTGHATPLPVTSPSSASRGDT
19:12244240-12244240 G>A	1.0	2369	MELANOMA	-	-	-	-	ZNF20	ENST00000334213,p.A254V|NM_001203250,p.A251V|uc002mtg.2,p.A254V|uc002mtf.2,p.A254V|uc002mte.2,p.A219V|uc021upm.1,p.A251V|NM_021143,p.A254V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021upm.1	nonsynonymous SNV	exon4	c.C752T	p.A251V	LPVHERTHTGVNADECKECGNAFSF	LPVHERTHTGVNVDECKECGNAFSF	5.0	10.0	-	-	2369_19:12244240-12244240 G>A_LPVHERTHTGVNVDECKECGNAFSF
3:195513491-195513491 G>T	0.0	2369	MELANOMA	-	-	-	2	MUC4	ENST00000480843,p.P1654T|uc021xjp.1,p.P1654T|NM_018406,p.P1654T|ENST00000477756,p.P1654T|ENST00000477086,p.P1654T|ENST00000470451,p.P1654T|ENST00000463781,p.P1654T|ENST00000479406,p.P1654T|ENST00000478156,p.P1654T|ENST00000462323,p.P1654T|ENST00000475231,p.P1654T|ENST00000466475,p.P1654T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C4960A	p.P1654T	STGHATPLHVTSPSSASTGHATPLP	STGHATPLHVTSTSSASTGHATPLP	1.0	1.0	unscreened	-	2369_3:195513491-195513491 G>T_STGHATPLHVTSTSSASTGHATPLP
19:15586370-15586370 C>T	0.0	2369	MELANOMA	-	-	-	-	PGLYRP2	uc002nbf.4,p.E371K|uc002nbg.3,p.E371K|ENST00000292609,p.E371K|NM_052890,p.E371K|ENST00000340880,p.E371K	protein_coding	uc002nbg.3	nonsynonymous SNV	exon2	c.G1111A	p.E371K	EQLAQVAANATKEFTEAFLGCPAIH	EQLAQVAANATKKFTEAFLGCPAIH	1.0	10.0	unscreened	-	2369_19:15586370-15586370 C>T_EQLAQVAANATKKFTEAFLGCPAIH
14:60712730-60712730 G>A	0.0	2369	MELANOMA	-	-	-	-	PPM1A	ENST00000531143,p.M55I	protein_coding, nonsense_mediated_decay	ENST00000531143	nonsynonymous SNV	exon1	c.G165A	p.M55I	GERRRNEKRGNQMKRMCERKKYETV	GERRRNEKRGNQIKRMCERKKYETV	8.0	10.0	unscreened	-	2369_14:60712730-60712730 G>A_GERRRNEKRGNQIKRMCERKKYETV
14:60712730-60712730 G>A	0.0	2369	MELANOMA	-	-	-	-	PPM1A	uc001xew.4,p.M55I|ENST00000325642,p.M55I|ENST00000532036,p.M55I|NM_177952,p.M55I	protein_coding, nonsense_mediated_decay	uc001xew.4	nonsynonymous SNV	exon1	c.G165A	p.M55I	GERRRNEKRGNQMKRMCERKKYETD	GERRRNEKRGNQIKRMCERKKYETD	8.0	10.0	-	-	2369_14:60712730-60712730 G>A_GERRRNEKRGNQIKRMCERKKYETD
10:50863200-50863200 G>A	0.0	2369	MELANOMA	-	-	-	-	CHAT	ENST00000455728,p.G447E|NM_020984,p.G447E|NM_001142933,p.G483E|NM_020986,p.G447E|uc001jhx.1,p.G447E|NM_020549,p.G565E|uc001jhy.1,p.G447E|NM_001142934,p.G447E|NM_001142929,p.G447E|uc001jhv.1,p.G447E|ENST00000395559,p.G447E|ENST00000351556,p.G447E|uc010qgs.1,p.G447E|ENST00000339797,p.G447E|ENST00000337653,p.G565E|ENST00000395562,p.G483E|uc001jhz.2,p.G565E|NM_020985,p.G447E	protein_coding, processed_transcript	uc010qgs.1	nonsynonymous SNV	exon12	c.G1340A	p.G447E	TYESASIRRFQEGRVDNIRSATPEA	TYESASIRRFQEERVDNIRSATPEA	1.0	10.0	unscreened	-	2369_10:50863200-50863200 G>A_TYESASIRRFQEERVDNIRSATPEA
11:56237471-56237471 C>T	0.0	2369	MELANOMA	-	-	-	-	OR5M3	ENST00000312240,p.G168E|uc010rjk.2,p.G168E|NM_001004742,p.G168E	protein_coding	uc010rjk.2	nonsynonymous SNV	exon1	c.G503A	p.G168E	AATLWTYGLYFCGKIEINHFYCADP	AATLWTYGLYFCEKIEINHFYCADP	1.0	7.0	unscreened	-	2369_11:56237471-56237471 C>T_AATLWTYGLYFCEKIEINHFYCADP
17:10446237-10446237 G>A	0.0	2369	MELANOMA	-	-	-	-	MYH2	NM_017534,p.H287Y|ENST00000397183,p.H287Y|ENST00000532183,p.H287Y|uc010coj.3,p.H287Y|uc010coi.3,p.H287Y|NM_001100112,p.H287Y|uc002gmp.4,p.H287Y|ENST00000245503,p.H287Y	protein_coding	uc010coj.3	nonsynonymous SNV	exon10	c.C859T	p.H287Y	RVVFQLKAERSYHIFYQITSNKKPE	RVVFQLKAERSYYIFYQITSNKKPE	1.0	8.0	unscreened	-	2369_17:10446237-10446237 G>A_RVVFQLKAERSYYIFYQITSNKKPE
6:117248262-117248262 G>A	0.0	2369	MELANOMA	-	-	-	-	RFX6	ENST00000332958,p.G653E|NM_173560,p.G653E|uc003pxm.3,p.G653E	retained_intron, protein_coding, processed_transcript	uc003pxm.3	nonsynonymous SNV	exon17	c.G1958A	p.G653E	MTPPISPAMASRGSVINQGPMAGRP	MTPPISPAMASRESVINQGPMAGRP	1.0	3.0	unscreened	-	2369_6:117248262-117248262 G>A_MTPPISPAMASRESVINQGPMAGRP
4:144922436-144922436 T>G	0.0	2369	MELANOMA	-	rs201662569	-	-	GYPB	ENST00000502664,p.E13A|ENST00000429670,p.E13A|uc003ijm.1,p.E13A|uc010ioo.2,p.E13A|NM_002100,p.E13A|ENST00000283126,p.E13A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ioo.2	nonsynonymous SNV	exon2	c.A38C	p.E13A	MYGKIIFVLLLSEIVSISALSTTEV	MYGKIIFVLLLSAIVSISALSTTEV	4.0	1.0	unscreened	-	2369_4:144922436-144922436 T>G_MYGKIIFVLLLSAIVSISALSTTEV
7:51097159-51097159 C>T	1.0	2369	MELANOMA	-	-	-	-	COBL	uc003tpq.4,p.G486E|ENST00000445054,p.G437E|uc003tpr.4,p.G545E|uc011kcl.2,p.G545E|uc003tpp.4,p.G331E|uc003tps.3,p.G602E|ENST00000265136,p.G545E|NM_001287436,p.G602E|NM_015198,p.G545E|uc003tpo.4,p.G87E|ENST00000431948,p.G430E|ENST00000395542,p.G627E	retained_intron, protein_coding	uc011kcl.2	nonsynonymous SNV	exon10	c.G1634A	p.G545E	HGDTDAIPVTFIGEVSDDPVDSGLF	HGDTDAIPVTFIEEVSDDPVDSGLF	6.0	8.0	-	-	2369_7:51097159-51097159 C>T_HGDTDAIPVTFIEEVSDDPVDSGLF
2:211512609-211512609 C>T	1.0	2369	MELANOMA	-	-	-	-	CPS1	NM_001875,p.S1055L|ENST00000430249,p.S1061L|ENST00000233072,p.S1055L|uc002vee.4,p.S1055L|NM_001122633,p.S1061L|uc010fus.3,p.S604L|ENST00000451903,p.S604L|uc010fur.3,p.S1061L|NM_001122634,p.S604L	retained_intron, protein_coding, processed_transcript	uc010fus.3	nonsynonymous SNV	exon16	c.C1811T	p.S604L	IYHQEACGGCIISVGGQIPNNLAVP	IYHQEACGGCIILVGGQIPNNLAVP	7.0	4.0	-	-	2369_2:211512609-211512609 C>T_IYHQEACGGCIILVGGQIPNNLAVP
19:23328762-23328762 C>T	0.0	2369	MELANOMA	-	-	-	-	ZNF730	ENST00000597761,p.H306Y|uc031rkc.1,p.H306Y|NM_001277403,p.H306Y	protein_coding	uc031rkc.1	nonsynonymous SNV	exon4	c.C916T	p.H306Y	NQSSNLTEHKKIHTKEQPYKCEKCG	NQSSNLTEHKKIYTKEQPYKCEKCG	3.0	9.0	unscreened	-	2369_19:23328762-23328762 C>T_NQSSNLTEHKKIYTKEQPYKCEKCG
19:22499532-22499532 C>A	0.0	2369	MELANOMA	-	-	-	-	ZNF729	ENST00000601693,p.Q1105K|NM_001242680,p.Q1105K|ENST00000357491,p.Q1077K|uc021urs.1,p.Q1105K	protein_coding	uc021urs.1	nonsynonymous SNV	exon4	c.C3313A	p.Q1105K	KHKVIHTGKKPYQCDECGKAFNNSS	KHKVIHTGKKPYKCDECGKAFNNSS	1.0	1.0	unscreened	-	2369_19:22499532-22499532 C>A_KHKVIHTGKKPYKCDECGKAFNNSS
19:54823823-54823823 C>T	0.0	2369	MELANOMA	-	-	-	-	LILRA5	uc010yev.2,p.M24I|ENST00000301219,p.M24I|NM_021250,p.M24I|ENST00000432233,p.M24I|NM_181879,p.M24I|uc002qfg.1,p.M24I|uc002qfe.3,p.M24I	retained_intron, protein_coding	uc010yev.2	nonsynonymous SNV	exon2	c.G72A	p.M24I	QPVGGDAVSPALMVLLCLGLSLGPR	QPVGGDAVSPALIVLLCLGLSLGPR	1.0	7.0	unscreened	-	2369_19:54823823-54823823 C>T_QPVGGDAVSPALIVLLCLGLSLGPR
19:9060665-9060665 C>T	0.0	2369	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.M8927I|NM_024690,p.M8927I|uc002mkp.3,p.M8927I	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.G26781A	p.M8927I	TSDESLATSKATMETEAIQLSENTA	TSDESLATSKATIETEAIQLSENTA	1.0	10.0	unscreened	-	2369_19:9060665-9060665 C>T_TSDESLATSKATIETEAIQLSENTA
12:6777070-6777072 TGC>-	1.0	2369	MELANOMA	-	-	ID=COSM1133963,COSM431727,COSM431726,COSM1133964;OCCURENCE=3(breast),2(endometrium),1(ovary)	1	ZNF384	NM_001039920,p.398_399del|uc001qqd.3,p.398_399del|ENST00000396795,p.453_454del|uc001qqa.3,p.453_454del|ENST00000355772,p.398_399del|ENST00000361959,p.514_515del|ENST00000396799,p.453_454del|ENST00000396801,p.514_515del|NM_133476,p.453_454del|ENST00000319770,p.437_438del|uc010sfh.2,p.514_515del|NM_001135734,p.514_515del	protein_coding, processed_transcript	uc010sfh.2	nonframeshift deletion	exon11	c.1542_1544del	p.514_515del	QQQQQQQQQQQQQQQPPPHFQSPGA	QQQQQQQQQQQQQQPPPHFQSPGAA	8.0	2.0	unscreened	-	2369_12:6777070-6777072 TGC>-_QQQQQQQQQQQQQQPPPHFQSPGAA
12:2224402-2224402 G>A	0.0	2369	MELANOMA	-	-	-	-	CACNA1C	ENST00000543114,p.G51E	retained_intron, protein_coding, processed_transcript	ENST00000543114	nonsynonymous SNV	exon2	c.G152A	p.G51E	NYFYISPGGSNYGSPRPAHANMNAN	NYFYISPGGSNYESPRPAHANMNAN	1.0	3.0	unscreened	-	2369_12:2224402-2224402 G>A_NYFYISPGGSNYESPRPAHANMNAN
12:2224402-2224402 G>A	0.0	2369	MELANOMA	-	-	-	-	CACNA1C	NM_001129838,p.G21E|ENST00000399606,p.G21E|NM_001129840,p.G21E|NM_001129827,p.G21E|uc001qkf.2,p.G21E|uc001qks.2,p.G21E|uc001qkr.2,p.G21E|NM_001129844,p.G21E|NM_001129830,p.G21E|uc001qkt.2,p.G21E|uc001qkn.2,p.G21E|NM_000719,p.G21E|uc001qkq.2,p.G21E|uc001qkc.2,p.G21E|ENST00000399644,p.G21E|ENST00000399634,p.G21E|ENST00000327702,p.G21E|ENST00000335762,p.G21E|NM_001129843,p.G21E|ENST00000399655,p.G21E|ENST00000399617,p.G21E|ENST00000399595,p.G21E|uc001qko.2,p.G21E|ENST00000402845,p.G21E|ENST00000399629,p.G21E|ENST00000399621,p.G21E|NM_001129842,p.G21E|uc001qkp.2,p.G21E|ENST00000399597,p.G21E|uc001qkj.2,p.G21E|NM_001129841,p.G21E|NM_001129833,p.G21E|ENST00000406454,p.G21E|ENST00000399591,p.G21E|ENST00000480911,p.G21E|NM_001129832,p.G21E|NM_199460,p.G21E|NM_001167623,p.G21E|uc001qjz.2,p.G21E|uc009zdw.1,p.G21E|uc001qkg.2,p.G21E|uc001qke.2,p.G21E|ENST00000399638,p.G21E|ENST00000347598,p.G21E|NM_001129837,p.G21E|uc001qkm.2,p.G21E|uc001qkb.2,p.G21E|ENST00000344100,p.G21E|uc009zdv.1,p.G21E|NM_001129835,p.G21E|ENST00000399601,p.G21E|NM_001129846,p.G21E|NM_001129836,p.G21E|uc009zdu.1,p.G21E|uc001qkl.2,p.G21E|uc001qkh.2,p.G21E|NM_001167625,p.G21E|uc001qku.2,p.G21E|NM_001129839,p.G21E|ENST00000399649,p.G21E|NM_001129829,p.G21E|NM_001167624,p.G21E|NM_001129831,p.G21E|ENST00000399641,p.G21E|ENST00000399637,p.G21E|NM_001129834,p.G21E|uc001qkd.2,p.G21E|ENST00000399603,p.G21E|uc001qkk.2,p.G21E	retained_intron, protein_coding, processed_transcript	uc009zdw.1	nonsynonymous SNV	exon2	c.G62A	p.G21E	YIPEENHQGSNYGSPRPAHANMNAN	YIPEENHQGSNYESPRPAHANMNAN	1.0	3.0	unscreened	-	2369_12:2224402-2224402 G>A_YIPEENHQGSNYESPRPAHANMNAN
8:90976659-90976659 G>A	1.0	2369	MELANOMA	-	-	-	1	NBN	uc003yei.1,p.P243S|uc011lgb.1,p.P325S|uc003yej.1,p.P325S|ENST00000409330,p.P243S|ENST00000265433,p.P325S|NM_002485,p.P325S	retained_intron, protein_coding, nonsense_mediated_decay	uc011lgb.1	nonsynonymous SNV	exon8	c.C973T	p.P325S	AVIFMTTKNYCDPQGHPSTGLKTTT	AVIFMTTKNYCDSQGHPSTGLKTTT	8.0	6.0	unscreened	-	2369_8:90976659-90976659 G>A_AVIFMTTKNYCDSQGHPSTGLKTTT
16:55907946-55907946 G>A	0.0	2369	MELANOMA	-	-	-	-	CES5A	uc002eip.2,p.P26L|NM_001143685,p.P26L|uc002eio.2,p.P26L|ENST00000520435,p.P26L|NM_145024,p.P26L|ENST00000319165,p.P26L|ENST00000290567,p.P26L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002eip.2	nonsynonymous SNV	exon2	c.C77T	p.P26L	WAIWVLAAPTKGPSAEGPQRNTRLG	WAIWVLAAPTKGLSAEGPQRNTRLG	5.0	5.0	-	-	2369_16:55907946-55907946 G>A_WAIWVLAAPTKGLSAEGPQRNTRLG
17:10395864-10395864 G>A	1.0	2369	MELANOMA	-	-	ID=COSM975274;OCCURENCE=1(endometrium)	-	MYH1	uc002gmo.3,p.L1897F|ENST00000226207,p.L1897F|NM_005963,p.L1897F	protein_coding	uc002gmo.3	nonsynonymous SNV	exon40	c.C5689T	p.L1897F	QAEEAEEQSNVNLSKFRRIQHELEE	QAEEAEEQSNVNFSKFRRIQHELEE	2.0	9.0	unscreened	-	2369_17:10395864-10395864 G>A_QAEEAEEQSNVNFSKFRRIQHELEE
7:74193642-74193642 G>A	0.0	2369	MELANOMA	-	rs201802880	-	-	NCF1	ENST00000442021,p.R97H|uc003ubb.3,p.R90H|uc010lbs.1,p.R90H|ENST00000289473,p.R90H|ENST00000433458,p.R90H	retained_intron, protein_coding, processed_transcript	uc010lbs.1	nonsynonymous SNV	exon4	c.G269A	p.R90H	PKWFDGQRAAENRQGTLTEYCGTLM	PKWFDGQRAAENHQGTLTEYCGTLM	1.0	1.0	unscreened	-	2369_7:74193642-74193642 G>A_PKWFDGQRAAENHQGTLTEYCGTLM
16:66426175-66426175 C>T	0.0	2369	MELANOMA	-	-	-	-	CDH5	ENST00000563425,p.P369L|uc002eom.4,p.P369L|NM_001795,p.P369L|uc002eon.1,p.P369L|ENST00000341529,p.P369L	protein_coding, nonsense_mediated_decay	uc002eon.1	nonsynonymous SNV	exon6	c.C1106T	p.P369L	AQVIINITDVDEPPIFQQPFYHFQL	AQVIINITDVDELPIFQQPFYHFQL	2.0	3.0	unscreened	-	2369_16:66426175-66426175 C>T_AQVIINITDVDELPIFQQPFYHFQL
14:21502278-21502278 G>A	0.0	2369	MELANOMA	-	-	-	-	RNASE13	NM_001012264,p.S57F|ENST00000382951,p.S57F|uc021rot.1,p.S57F|uc001vzj.3,p.S57F	protein_coding	uc021rot.1	nonsynonymous SNV	exon1	c.C170T	p.S57F	PKGFRGYCNGLMSYMRGKMQNSDCP	PKGFRGYCNGLMFYMRGKMQNSDCP	1.0	5.0	unscreened	-	2369_14:21502278-21502278 G>A_PKGFRGYCNGLMFYMRGKMQNSDCP
11:57003970-57003970 G>A	0.0	2369	MELANOMA	-	-	-	-	APLNR	NM_005161,p.T170I|ENST00000606794,p.T170I|uc001njo.3,p.T170I|ENST00000257254,p.T170I	protein_coding	uc001njo.3	nonsynonymous SNV	exon1	c.C509T	p.T170I	ALLAMPVMVLRTTGDLENTTKVQCY	ALLAMPVMVLRTIGDLENTTKVQCY	1.0	3.0	unscreened	-	2369_11:57003970-57003970 G>A_ALLAMPVMVLRTIGDLENTTKVQCY
5:94749739-94749739 C>T	0.0	2369	MELANOMA	-	-	-	-	FAM81B	ENST00000283357,p.L128F|ENST00000503361,p.L74F|uc003kla.1,p.L128F|NM_152548,p.L128F	protein_coding, processed_transcript, nonsense_mediated_decay	uc003kla.1	nonsynonymous SNV	exon4	c.C382T	p.L128F	DRLNNQARTIAFLLEQAFRIKEDIS	DRLNNQARTIAFFLEQAFRIKEDIS	1.0	10.0	unscreened	-	2369_5:94749739-94749739 C>T_DRLNNQARTIAFFLEQAFRIKEDIS
7:82585131-82585131 C>T	0.0	2369	MELANOMA	-	-	-	-	PCLO	NM_033026,p.R1713K|ENST00000333891,p.R1713K|NM_014510,p.R1713K|uc003uhv.2,p.R1713K|uc003uhx.2,p.R1713K|ENST00000423517,p.R1713K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon5	c.G5138A	p.R1713K	MESLTDSPEDRSRGEGSSSLHASSF	MESLTDSPEDRSKGEGSSSLHASSF	10.0	5.0	-	-	2369_7:82585131-82585131 C>T_MESLTDSPEDRSKGEGSSSLHASSF
3:195513076-195513076 C>G	0.0	2369	MELANOMA	-	-	-	2	MUC4	NM_018406,p.R1792P|ENST00000478156,p.R1792P|ENST00000477756,p.R1792P|ENST00000479406,p.R1792P|ENST00000475231,p.R1792P|ENST00000470451,p.R1792P|ENST00000466475,p.R1792P|uc021xjp.1,p.R1792P|ENST00000477086,p.R1792P|ENST00000462323,p.R1792P|ENST00000463781,p.R1792P|ENST00000480843,p.R1792P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G5375C	p.R1792P	TGLSSASTDDTTRLPVTDVSSASTG	TGLSSASTDDTTPLPVTDVSSASTG	1.0	1.0	unscreened	-	2369_3:195513076-195513076 C>G_TGLSSASTDDTTPLPVTDVSSASTG
6:82461727-82461727 ->CCGCCGAAGTCGCCG	0.0	2369	MELANOMA	-	-	-	-	FAM46A	uc003pjh.1,p.G44delinsGGDFGG|uc003pjg.3,p.G44delinsGGDFGG|ENST00000320172,p.G44delinsGGDFGG|uc003pjf.3,p.G63delinsGGDFGG|ENST00000369754,p.G63delinsGGDFGG|ENST00000369756,p.G125delinsGGDFGG|NM_017633,p.G44delinsGGDFGG	protein_coding	uc003pjh.1	nonframeshift insertion	exon2	c.131_132insCGGCGACTTCGGCGG	p.G44delinsGGDFGG	FGGGDFGGGDFGGGGSFGGHCLDYC	FGGGDFGGGDFGGGDFGGGGSFGGH	8.0	1.0	unscreened	-	2369_6:82461727-82461727 ->CCGCCGAAGTCGCCG_FGGGDFGGGDFGGGDFGGGGSFGGH
1:152190656-152190656 C>A	0.0	2369	MELANOMA	-	-	-	-	HRNR	ENST00000368801,p.R1150L|uc001ezt.2,p.R1150L|NM_001009931,p.R1150L	protein_coding	uc001ezt.2	nonsynonymous SNV	exon3	c.G3449T	p.R1150L	SPSYGRHGSGSGRSSSSGQHGSGLG	SPSYGRHGSGSGLSSSSGQHGSGLG	2.0	1.0	unscreened	-	2369_1:152190656-152190656 C>A_SPSYGRHGSGSGLSSSSGQHGSGLG
4:186112002-186112002 G>A	1.0	2369	MELANOMA	-	-	-	-	CFAP97	ENST00000514798,p.P117S|ENST00000503223,p.P117S|uc003ixg.3,p.P117S|NM_001292033,p.P117S|uc003ixf.4,p.P117S|ENST00000458385,p.P117S|ENST00000296775,p.P117S|NM_020827,p.P117S	protein_coding, processed_transcript	uc003ixg.3	nonsynonymous SNV	exon2	c.C349T	p.P117S	DVTTGLKIHVSIPNRIPKIVKEGED	DVTTGLKIHVSISNRIPKIVKEGED	9.0	3.0	-	-	2369_4:186112002-186112002 G>A_DVTTGLKIHVSISNRIPKIVKEGED
10:129847856-129847856 C>T	0.0	2369	MELANOMA	-	-	-	-	PTPRE	ENST00000479896,p.P58S|ENST00000455661,p.P116S|uc010quq.1,p.P17S|ENST00000419012,p.P116S|ENST00000254667,p.P116S|NM_006504,p.P116S|ENST00000306042,p.P58S|NM_130435,p.P58S|uc009yau.2,p.P116S|uc001lkd.3,p.P58S|ENST00000495530,p.P58S|ENST00000430713,p.P116S|uc001lkb.3,p.P116S|ENST00000442830,p.P116S|uc009yat.3,p.P127S	protein_coding, processed_transcript	uc010quq.1	nonsynonymous SNV	exon1	c.C49T	p.P17S	RSPSGPKKYFPIPVEHLEEEIRIRS	RSPSGPKKYFPISVEHLEEEIRIRS	1.0	4.0	unscreened	-	2369_10:129847856-129847856 C>T_RSPSGPKKYFPISVEHLEEEIRIRS
7:143056069-143056069 C>T	0.0	2369	MELANOMA	-	-	-	2	FAM131B	NM_001031690,p.G106E|NM_014690,p.G78E|ENST00000443739,p.G106E|ENST00000409578,p.G94E|ENST00000409408,p.G78E|ENST00000409222,p.G78E|uc010lpa.3,p.G106E|uc003wct.3,p.G78E|uc003wcu.4,p.G78E|uc010loz.3,p.G46E|ENST00000409346,p.G78E	retained_intron, protein_coding, nonsense_mediated_decay	uc010lpa.3	nonsynonymous SNV	exon5	c.G317A	p.G106E	SMKDHVTKPTAMGQGRVAHMIEWQG	SMKDHVTKPTAMEQGRVAHMIEWQG	2.0	10.0	unscreened	-	2369_7:143056069-143056069 C>T_SMKDHVTKPTAMEQGRVAHMIEWQG
3:195509695-195509695 G>A	0.0	2369	MELANOMA	-	-	-	2	MUC4	ENST00000477086,p.S2919F|ENST00000478156,p.S2919F|ENST00000475231,p.S2919F|ENST00000462323,p.S2919F|ENST00000477756,p.S2919F|NM_018406,p.S2919F|ENST00000470451,p.S2919F|ENST00000463781,p.S2919F|ENST00000466475,p.S2919F|uc021xjp.1,p.S2919F|ENST00000480843,p.S2919F|ENST00000479406,p.S2919F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C8756T	p.S2919F	TGDTTPLPVTDTSSASTGQATPLPV	TGDTTPLPVTDTFSASTGQATPLPV	1.0	3.0	unscreened	-	2369_3:195509695-195509695 G>A_TGDTTPLPVTDTFSASTGQATPLPV
8:10396176-10396176 G>A	0.0	2369	MELANOMA	-	-	-	-	PRSS55	ENST00000328655,p.R311K|uc003wta.3,p.R311K|NM_198464,p.R311K	protein_coding, nonsense_mediated_decay	uc003wta.3	nonsynonymous SNV	exon5	c.G932A	p.R311K	TQLEGRPFNAEKRRTSVKQKPMGSP	TQLEGRPFNAEKKRTSVKQKPMGSP	1.0	5.0	unscreened	-	2369_8:10396176-10396176 G>A_TQLEGRPFNAEKKRTSVKQKPMGSP
6:109591494-109591494 C>T	0.0	2369	MELANOMA	-	-	-	-	LOC100996634	uc003pta.2,p.P567S|ENST00000606661,p.P567S|NM_001277339,p.P567S	-	uc003pta.2	nonsynonymous SNV	exon10	c.C1699T	p.P567S	LFSLLPFSLSFSPAPYFLFPISLSS	LFSLLPFSLSFSSAPYFLFPISLSS	1.0	4.0	unscreened	-	2369_6:109591494-109591494 C>T_LFSLLPFSLSFSSAPYFLFPISLSS
7:74193642-74193642 G>A	0.0	2369	MELANOMA	-	rs201802880	-	-	NCF1	NM_000265,p.R90H	retained_intron, protein_coding, processed_transcript	NM_000265	nonsynonymous SNV	exon4	c.G269A	p.R90H	PKWFDGQRAAENRQGTLTEYCSTLM	PKWFDGQRAAENHQGTLTEYCSTLM	1.0	1.0	unscreened	-	2369_7:74193642-74193642 G>A_PKWFDGQRAAENHQGTLTEYCSTLM
20:30037969-30037969 C>T	0.0	2369	MELANOMA	-	-	ID=COSM1203318;OCCURENCE=1(large_intestine)	-	DEFB123	NM_153324,p.P66S|ENST00000376309,p.P66S|uc002wvy.3,p.P66S	protein_coding	uc002wvy.3	nonsynonymous SNV	exon2	c.C196T	p.P66S	VKPKYQPKERWWPF	VKPKYQPKERWWSF	1.0	5.0	unscreened	-	2369_20:30037969-30037969 C>T_VKPKYQPKERWWSF
10:81373526-81373526 G>A	0.0	2369	MELANOMA	-	-	-	-	SFTPA1	NM_001164647,p.G135E|NM_001164645,p.G101E|uc010qlt.2,p.G76E|ENST00000429958,p.G135E|uc009xrz.3,p.G65E|uc001kao.3,p.G101E|NM_001093770,p.G150E|NM_005411,p.G135E|uc021puu.1,p.G86E|ENST00000398636,p.G135E|NM_001164644,p.G135E|NM_001164646,p.G86E|uc009xry.3,p.G150E|uc001kap.3,p.G135E|ENST00000419470,p.G150E|ENST00000372308,p.G135E|ENST00000428376,p.G135E|uc001kar.3,p.G135E|ENST00000439264,p.G135E|ENST00000372313,p.G76E|uc001kaq.3,p.G135E	retained_intron, protein_coding	uc021puu.1	nonsynonymous SNV	exon6	c.G257A	p.G86E	GALSLQGSIMTVGEKVFSSNGQSIT	GALSLQGSIMTVEEKVFSSNGQSIT	1.0	10.0	unscreened	-	2369_10:81373526-81373526 G>A_GALSLQGSIMTVEEKVFSSNGQSIT
12:53207583-53207583 ->CACCAAAGCCACCAGTGCCGAAACCAGCTCCGAAGCCGCCGG	0.0	2369	MELANOMA	-	-	-	-	KRT4	NM_002272,p.G87delinsAGGFGAGFGTGGFGG|ENST00000551956,p.G87delinsAGGFGAGFGTGGFGG|ENST00000458244,p.G67delinsAGGFGAGFGTGGFGG|ENST00000293774,p.G161delinsAGGFGAGFGTGGFGG|uc031qhk.1,p.G87delinsAGGFGAGFGTGGFGG	retained_intron, protein_coding, nonsense_mediated_decay	uc031qhk.1	nonframeshift insertion	exon1	c.259_260insCCGGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTTGGTG	p.G87delinsAGGFGAGFGTGGFGG	GGAGGFGTGGFGGGFGGSFSGKGGP	GGAGGFGTGGFGAGGFGAGFGTGGF	1.0	1.0	unscreened	-	2369_12:53207583-53207583 ->CACCAAAGCCACCAGTGCCGAAACCAGCTCCGAAGCCGCCGG_GGAGGFGTGGFGAGGFGAGFGTGGF
21:43808629-43808629 A>C	0.0	2369	MELANOMA	-	-	-	-	TMPRSS3	ENST00000291532,p.V110G|ENST00000433957,p.V110G|NM_001256317,p.V110G|uc002zbc.3,p.V110G|ENST00000398405,p.V108G|ENST00000380399,p.V194G|NM_032405,p.V110G|NM_024022,p.V110G|uc002zbd.4,p.V110G|ENST00000398397,p.V110G|uc002zbb.3,p.V110G	retained_intron, protein_coding, processed_transcript	uc002zbd.4	nonsynonymous SNV	exon5	c.T329G	p.V110G	CKDGEDEYRCVRVGGQNAVLQVFTA	CKDGEDEYRCVRGGGQNAVLQVFTA	1.0	9.0	unscreened	-	2369_21:43808629-43808629 A>C_CKDGEDEYRCVRGGGQNAVLQVFTA
6:30673385-30673385 C>G	0.0	2369	MELANOMA	-	-	-	-	MDC1	NM_014641,p.S1192T|uc011dmp.1,p.S799T|ENST00000376406,p.S1192T|uc003nrg.4,p.S1192T|ENST00000376405,p.S928T	retained_intron, protein_coding, processed_transcript	uc011dmp.1	nonsynonymous SNV	exon10	c.G2396C	p.S799T	SEPTSQVTRGRKSRSSVKTPETVVP	SEPTSQVTRGRKTRSSVKTPETVVP	7.0	1.0	unscreened	-	2369_6:30673385-30673385 C>G_SEPTSQVTRGRKTRSSVKTPETVVP
5:175533585-175533585 C>T	0.0	2369	MELANOMA	-	rs62389255	-	-	FAM153B	ENST00000510151,p.P208L|NM_001265615,p.P208L|ENST00000253490,p.P285L|uc031smd.1,p.P74L|ENST00000515817,p.P208L|ENST00000508296,p.P208L|uc031smb.1,p.P208L|uc031smc.1,p.P285L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031smd.1	nonsynonymous SNV	exon6	c.C221T	p.P74L	TGVHMMQVDPATPAKSDLEDLEEHV	TGVHMMQVDPATLAKSDLEDLEEHV	1.0	2.0	unscreened	-	2369_5:175533585-175533585 C>T_TGVHMMQVDPATLAKSDLEDLEEHV
12:55846733-55846733 G>A	0.0	2369	MELANOMA	-	-	-	-	OR6C2	ENST00000322678,p.V246I|uc001sgz.1,p.V246I|NM_054105,p.V246I	protein_coding	uc001sgz.1	nonsynonymous SNV	exon1	c.G736A	p.V246I	KAFSTCSSHMIVVSIAYGSCIFIYI	KAFSTCSSHMIVISIAYGSCIFIYI	1.0	9.0	unscreened	-	2369_12:55846733-55846733 G>A_KAFSTCSSHMIVISIAYGSCIFIYI
12:75444588-75444588 C>T	0.0	2369	MELANOMA	-	-	-	-	KCNC2	ENST00000548513,p.M399I|ENST00000540018,p.M399I|ENST00000550433,p.M399I|ENST00000549446,p.M399I|ENST00000393288,p.M399I|ENST00000350228,p.M399I|uc009zry.4,p.M399I|ENST00000341669,p.M399I|NM_153748,p.M399I|uc010stw.2,p.M399I|uc001sxf.4,p.M399I|NM_139137,p.M399I|NM_139136,p.M399I|NM_001260498,p.M399I|ENST00000298972,p.M399I|NM_001260499,p.M399I|uc031qif.1,p.M399I|uc001sxg.2,p.M399I|uc001sxe.4,p.M399I|NM_001260497,p.M399I	protein_coding, processed_transcript	uc031qif.1	nonsynonymous SNV	exon3	c.G1197A	p.M399I	IFLALGVLIFATMIYYAERVGAQPN	IFLALGVLIFATIIYYAERVGAQPN	1.0	4.0	unscreened	-	2369_12:75444588-75444588 C>T_IFLALGVLIFATIIYYAERVGAQPN
5:179731876-179731876 G>A	0.0	2369	MELANOMA	-	-	-	-	GFPT2	NM_005110,p.P580S|ENST00000253778,p.P580S|uc003mlw.1,p.P580S	retained_intron, protein_coding, processed_transcript	uc003mlw.1	nonsynonymous SNV	exon17	c.C1738T	p.P580S	SEGILAGELKHGPLALIDKQMPVIM	SEGILAGELKHGSLALIDKQMPVIM	4.0	10.0	unscreened	-	2369_5:179731876-179731876 G>A_SEGILAGELKHGSLALIDKQMPVIM
1:77510046-77510046 G>A	0.0	2369	MELANOMA	-	-	-	-	ST6GALNAC5	uc001dhi.3,p.S140N|ENST00000477717,p.S140N|NM_030965,p.S140N|ENST00000318803,p.S140N	protein_coding, processed_transcript, nonsense_mediated_decay	uc001dhi.3	nonsynonymous SNV	exon3	c.G419A	p.S140N	TRGYGRDVGNRTSLRVIAHSSIQRI	TRGYGRDVGNRTNLRVIAHSSIQRI	3.0	10.0	unscreened	-	2369_1:77510046-77510046 G>A_TRGYGRDVGNRTNLRVIAHSSIQRI
1:200960219-200960219 C>T	0.0	2369	MELANOMA	-	-	-	-	KIF21B	uc001gvs.2,p.G838E|uc009wzl.2,p.G838E|NM_001252103,p.G838E|ENST00000360529,p.G838E|uc010ppn.2,p.G838E|ENST00000461742,p.G838E|NM_001252100,p.G838E|uc001gvr.2,p.G838E|ENST00000422435,p.G838E|NM_017596,p.G838E|NM_001252102,p.G838E|ENST00000332129,p.G838E	retained_intron, protein_coding, nonsense_mediated_decay	uc010ppn.2	nonsynonymous SNV	exon18	c.G2513A	p.G838E	AKPMSERVAGRAGLKPPMLDSGAEV	AKPMSERVAGRAELKPPMLDSGAEV	2.0	6.0	unscreened	-	2369_1:200960219-200960219 C>T_AKPMSERVAGRAELKPPMLDSGAEV
3:195515257-195515257 G>T	0.0	2369	MELANOMA	-	-	-	2	MUC4	ENST00000477086,p.A1065E|ENST00000478156,p.A1065E|ENST00000475231,p.A1065E|ENST00000477756,p.A1065E|ENST00000462323,p.A1065E|ENST00000466475,p.A1065E|NM_018406,p.A1065E|ENST00000480843,p.A1065E|ENST00000470451,p.A1065E|ENST00000479406,p.A1065E|uc021xjp.1,p.A1065E|ENST00000463781,p.A1065E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C3194A	p.A1065E	DSTPLPVTDTSSASTGHVTPLPVTS	DSTPLPVTDTSSESTGHVTPLPVTS	1.0	1.0	unscreened	-	2369_3:195515257-195515257 G>T_DSTPLPVTDTSSESTGHVTPLPVTS
6:78471215-78471215 C>T	0.0	2369	MELANOMA	-	-	-	-	MEI4	NM_001282136,p.P201S|ENST00000602452,p.P201S	-	NM_001282136	nonsynonymous SNV	exon2	c.C601T	p.P201S	QLLDGLITFYRNPKLPFSRFWTEAV	QLLDGLITFYRNSKLPFSRFWTEAV	1.0	3.0	unscreened	-	2369_6:78471215-78471215 C>T_QLLDGLITFYRNSKLPFSRFWTEAV
11:46406877-46406877 G>A	0.0	2369	MELANOMA	-	-	ID=COSM229776;OCCURENCE=1(skin)	-	CHRM4	NM_000741,p.L411F|uc001nct.1,p.L411F|ENST00000433765,p.L411F	protein_coding	uc001nct.1	nonsynonymous SNV	exon1	c.C1231T	p.L411F	TRTIFAILLAFILTWTPYNVMVLVN	TRTIFAILLAFIFTWTPYNVMVLVN	1.0	8.0	unscreened	-	2369_11:46406877-46406877 G>A_TRTIFAILLAFIFTWTPYNVMVLVN
2:202523230-202523230 A>G	0.0	2369	MELANOMA	-	-	-	-	MPP4	ENST00000447335,p.F360L|uc010ftj.3,p.F360L	retained_intron, protein_coding, nonsense_mediated_decay	uc010ftj.3	nonsynonymous SNV	exon14	c.T1078C	p.F360L	VEAEELSEDKEEFVGYGQKFFIAGF	VEAEELSEDKEELVGYGQKFFIAGF	1.0	4.0	unscreened	-	2369_2:202523230-202523230 A>G_VEAEELSEDKEELVGYGQKFFIAGF
2:202523230-202523230 A>G	0.0	2369	MELANOMA	-	-	-	-	MPP4	NM_033066,p.F367L|ENST00000409474,p.F367L|uc002uyk.4,p.F367L	retained_intron, protein_coding, nonsense_mediated_decay	uc002uyk.4	nonsynonymous SNV	exon16	c.T1099C	p.F367L	FESEELSEDKEEFVGYGQKFFIAGF	FESEELSEDKEELVGYGQKFFIAGF	1.0	4.0	unscreened	-	2369_2:202523230-202523230 A>G_FESEELSEDKEELVGYGQKFFIAGF
1:248084798-248084798 C>T	0.0	2369	MELANOMA	-	rs61857491	-	-	OR2T8	ENST00000319968,p.A160V|NM_001005522,p.A160V|uc010pzc.2,p.A160V	protein_coding	uc010pzc.2	nonsynonymous SNV	exon1	c.C479T	p.A160V	LLGAADGLLQAVATLSFPYCGAHEI	LLGAADGLLQAVVTLSFPYCGAHEI	1.0	2.0	unscreened	-	2369_1:248084798-248084798 C>T_LLGAADGLLQAVVTLSFPYCGAHEI
10:30318623-30318623 C>T	0.0	2369	MELANOMA	-	-	-	-	KIAA1462	ENST00000375377,p.G152S|uc001iuz.3,p.G14S|NM_020848,p.G152S|uc001iux.3,p.G152S|uc009xle.2,p.G152S	protein_coding, processed_transcript	uc009xle.2	nonsynonymous SNV	exon3	c.G454A	p.G152S	AQAHSLPVHVREGPWEVGGRSEHVM	AQAHSLPVHVRESPWEVGGRSEHVM	2.0	10.0	unscreened	-	2369_10:30318623-30318623 C>T_AQAHSLPVHVRESPWEVGGRSEHVM
13:20067011-20067011 A>C	0.0	2369	MELANOMA	-	-	-	-	TPTE2	ENST00000382978,p.L33R|uc009zzl.3,p.L33R|NM_199254,p.L33R|ENST00000382977,p.L33R|ENST00000400230,p.L33R|ENST00000382975,p.L33R|ENST00000457266,p.L33R|uc001umd.3,p.L33R|NM_001141968,p.L33R|ENST00000400103,p.L33R	protein_coding, nonsense_mediated_decay	uc009zzl.3	nonsynonymous SNV	exon5	c.T98G	p.L33R	ESPHTSEFKGAALVSPISKSMLERL	ESPHTSEFKGAARVSPISKSMLERL	2.0	1.0	unscreened	-	2369_13:20067011-20067011 A>C_ESPHTSEFKGAARVSPISKSMLERL
1:49100248-49100248 G>A	0.0	2369	MELANOMA	-	-	ID=COSM910460;OCCURENCE=1(endometrium)	-	AGBL4	uc001crv.1,p.R143C|uc001cru.2,p.R290C|uc010omy.1,p.R113C|ENST00000371839,p.R290C|ENST00000371838,p.R290C|uc010omw.1,p.R23C|ENST00000334103,p.R23C|NM_032785,p.R290C|uc010omx.1,p.R302C	protein_coding, processed_transcript	uc010omy.1	nonsynonymous SNV	exon4	c.C337T	p.R113C	NYRCSLMGFDLNRHWLDPSPWVHPT	NYRCSLMGFDLNCHWLDPSPWVHPT	1.0	10.0	unscreened	-	2369_1:49100248-49100248 G>A_NYRCSLMGFDLNCHWLDPSPWVHPT
1:192316501-192316501 A>T	0.0	2369	MELANOMA	-	-	-	-	RGS21	uc001gsh.3,p.T24S|ENST00000417209,p.T24S|NM_001039152,p.T24S	protein_coding	uc001gsh.3	nonsynonymous SNV	exon3	c.A70T	p.T24S	TAETMTWSENMDTLLANQAGLDAFR	TAETMTWSENMDSLLANQAGLDAFR	1.0	7.0	unscreened	-	2369_1:192316501-192316501 A>T_TAETMTWSENMDSLLANQAGLDAFR
19:51768738-51768738 G>A	0.0	2369	MELANOMA	-	-	-	-	SIGLECL1	ENST00000316401,p.G47S|NM_173635,p.G47S|uc002pwb.1,p.G47S|ENST00000597610,p.G47S|ENST00000601727,p.G47S	protein_coding, processed_transcript	uc002pwb.1	nonsynonymous SNV	exon3	c.G139A	p.G47S	PSVQWWMGGVPVGVDGMDGSLQVTS	PSVQWWMGGVPVSVDGMDGSLQVTS	1.0	9.0	unscreened	-	2369_19:51768738-51768738 G>A_PSVQWWMGGVPVSVDGMDGSLQVTS
7:81689793-81689793 G>A	0.0	2369	MELANOMA	-	-	-	-	CACNA2D1	ENST00000356253,p.S277F|ENST00000356860,p.S277F|ENST00000423588,p.S277F|uc003uhr.1,p.S277F|NM_000722,p.S277F	retained_intron, protein_coding, processed_transcript	uc003uhr.1	nonsynonymous SNV	exon10	c.C830T	p.S277F	SGLTLKLIRTSVSEMLETLSDDDFV	SGLTLKLIRTSVFEMLETLSDDDFV	1.0	5.0	unscreened	-	2369_7:81689793-81689793 G>A_SGLTLKLIRTSVFEMLETLSDDDFV
16:21011671-21011671 T>C	0.0	2369	MELANOMA	-	-	-	-	DNAH3	ENST00000261383,p.N2099S|uc010vbe.2,p.N2099S|NM_017539,p.N2099S	retained_intron, protein_coding, processed_transcript	uc010vbe.2	nonsynonymous SNV	exon43	c.A6296G	p.N2099S	FLLHLPKNTYLPNCINFSARTSANQ	FLLHLPKNTYLPSCINFSARTSANQ	3.0	4.0	unscreened	-	2369_16:21011671-21011671 T>C_FLLHLPKNTYLPSCINFSARTSANQ
4:102791667-102791667 C>T	0.0	2369	MELANOMA	-	-	-	-	BANK1	ENST00000444316,p.P227S|ENST00000508653,p.P124S|ENST00000322953,p.P257S|uc003hvx.4,p.P242S|NM_017935,p.P257S|uc003hvz.4,p.P227S|ENST00000428908,p.P124S|ENST00000504592,p.P242S|uc003hvy.4,p.P257S|NM_001127507,p.P124S|NM_001083907,p.P227S|uc010ill.3,p.P124S	retained_intron, protein_coding, processed_transcript	uc010ill.3	nonsynonymous SNV	exon4	c.C370T	p.P124S	NKKVWCMKALEFPAGSVHVNVYCDG	NKKVWCMKALEFSAGSVHVNVYCDG	3.0	5.0	unscreened	-	2369_4:102791667-102791667 C>T_NKKVWCMKALEFSAGSVHVNVYCDG
X:70522034-70522034 ->AGGTGAGGAGT	0.0	2369	MELANOMA	-	-	-	-	ITGB1BP2	uc004dzr.1,p.K38fs|ENST00000373829,p.K38fs|uc004dzs.1,p.K20fs|NM_012278,p.K38fs|ENST00000538820,p.K20fs	protein_coding, processed_transcript	uc004dzs.1	frameshift insertion	exon1	c.58_59insAGGTGAGGAGT	p.K20fs	HHPGVPIFHDALKGWSCCRKRTVDF	HHPGVPIFHDALKVRSRVGPAAESEL	3.0	3.0	unscreened	-	2369_X:70522034-70522034 ->AGGTGAGGAGT_HHPGVPIFHDALKVRSRVGPAAESEL
7:100683053-100683053 A>G	0.0	2369	MELANOMA	-	-	-	-	MUC17	ENST00000379439,p.T2786A|uc003uxp.1,p.T2786A|NM_001040105,p.T2786A|ENST00000306151,p.T2786A	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.A8356G	p.T2786A	TAVDTSIPVTTSTEASSSPTTAEVT	TAVDTSIPVTTSAEASSSPTTAEVT	1.0	1.0	unscreened	-	2369_7:100683053-100683053 A>G_TAVDTSIPVTTSAEASSSPTTAEVT
X:148037976-148037976 C>T	0.0	2369	MELANOMA	-	-	-	-	AFF2	uc004fcs.3,p.L768F|NM_001169125,p.L762F|NM_001169123,p.L791F|uc004fcr.3,p.L762F|uc011mxc.2,p.L442F|NM_001169122,p.L768F|NM_001169124,p.L766F|NM_002025,p.L801F|ENST00000370460,p.L801F|uc011mxb.2,p.L766F|uc004fcq.3,p.L791F|ENST00000286437,p.L442F|NM_001170628,p.L442F|ENST00000370457,p.L768F|uc004fcp.3,p.L801F|ENST00000342251,p.L768F	protein_coding	uc011mxc.2	nonsynonymous SNV	exon8	c.C1324T	p.L442F	LSPLRDHENLKNLWVKIDLDLLSRV	LSPLRDHENLKNFWVKIDLDLLSRV	1.0	10.0	unscreened	-	2369_X:148037976-148037976 C>T_LSPLRDHENLKNFWVKIDLDLLSRV
6:32489708-32489708 C>A	0.0	2369	MELANOMA	-	-	-	-	HLA-DRB5	ENST00000374975,p.G115V|uc003obk.4,p.G115V|NM_002125,p.G115V|uc003obj.3,p.G115V	protein_coding	uc003obk.4	nonsynonymous SNV	exon2	c.G344T	p.G115V	AVDTYCRHNYGVGESFTVQRRVEPK	AVDTYCRHNYGVVESFTVQRRVEPK	4.0	1.0	unscreened	-	2369_6:32489708-32489708 C>A_AVDTYCRHNYGVVESFTVQRRVEPK
15:75562299-75562299 G>A	0.0	2369	MELANOMA	-	-	-	-	GOLGA6C	NM_001164404,p.E643K|ENST00000300576,p.E643K|uc002azs.2,p.E643K	protein_coding	uc002azs.2	nonsynonymous SNV	exon17	c.G1927A	p.E643K	ADEPTPGAPAPQELGAAGEQDDFYE	ADEPTPGAPAPQKLGAAGEQDDFYE	1.0	1.0	unscreened	-	2369_15:75562299-75562299 G>A_ADEPTPGAPAPQKLGAAGEQDDFYE
9:93650043-93650043 G>A	0.0	2369	MELANOMA	-	-	-	1	SYK	NM_001135052,p.G509R|uc004arc.3,p.G532R|ENST00000375747,p.G509R|NM_001174167,p.G532R|ENST00000375751,p.G509R|ENST00000375754,p.G532R|NM_003177,p.G532R|ENST00000375746,p.G532R|NM_001174168,p.G509R|uc004arb.3,p.G509R|uc004ara.3,p.G509R|uc004aqz.3,p.G532R	protein_coding, processed_transcript	uc004arc.3	nonsynonymous SNV	exon12	c.G1594A	p.G532R	RADENYYKAQTHGKWPVKWYAPECI	RADENYYKAQTHRKWPVKWYAPECI	2.0	10.0	unscreened	-	2369_9:93650043-93650043 G>A_RADENYYKAQTHRKWPVKWYAPECI
12:49993805-49993805 C>T	1.0	2369	MELANOMA	-	-	-	-	FAM186B	NM_032130,p.E540K|ENST00000257894,p.E540K|uc010smk.2,p.E450K|uc001ruo.3,p.E540K|ENST00000532262,p.E153K|ENST00000544141,p.E450K	protein_coding, nonsense_mediated_decay	uc010smk.2	nonsynonymous SNV	exon4	c.G1348A	p.E450K	REQQRRWVQLEKEQESPRREPEQLG	REQQRRWVQLEKKQESPRREPEQLG	4.0	10.0	unscreened	-	2369_12:49993805-49993805 C>T_REQQRRWVQLEKKQESPRREPEQLG
2:212587251-212587251 C>T	0.0	2369	MELANOMA	-	-	-	1	ERBB4	uc002veg.1,p.M250I|uc010zji.1,p.M250I|ENST00000342788,p.M250I|NM_005235,p.M250I|uc002veh.1,p.M250I|uc010fut.1,p.M250I|ENST00000436443,p.M250I|NM_001042599,p.M250I|ENST00000402597,p.M250I|uc010zjj.1,p.M250I	retained_intron, protein_coding, processed_transcript	uc010zjj.1	nonsynonymous SNV	exon7	c.G750A	p.M250I	CSGPKDTDCFACMNFNDSGACVTQC	CSGPKDTDCFACINFNDSGACVTQC	1.0	9.0	unscreened	-	2369_2:212587251-212587251 C>T_CSGPKDTDCFACINFNDSGACVTQC
10:55582895-55582895 C>T	0.0	2369	MELANOMA	-	-	ID=COSM1686119,COSM1686118;OCCURENCE=2(skin)	-	PCDH15	ENST00000437009,p.E1462K|ENST00000395430,p.E1528K|uc010qib.1,p.E1508K|NM_033056,p.E1531K|uc021pqy.1,p.E1533K|NM_001142767,p.E1491K|NM_001142765,p.E1462K|uc021pqz.1,p.E1508K|ENST00000361849,p.E1533K|uc010qhv.1,p.E1528K|NM_001142766,p.E1528K|uc010qhz.1,p.E1533K|uc010qhw.1,p.E1491K|NM_001142773,p.E1508K|NM_001142763,p.E1538K|ENST00000320301,p.E1531K|uc010qhx.1,p.E1462K|NM_001142764,p.E1533K|uc010qhy.1,p.E1538K|ENST00000395432,p.E1491K|uc010qia.1,p.E1511K|NM_001142768,p.E1511K|ENST00000395433,p.E1508K|uc001jju.1,p.E1531K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqz.1	nonsynonymous SNV	exon31	c.G4522A	p.E1508K	EDDLSAHNPLYKENISQVSTNSDIS	EDDLSAHNPLYKKNISQVSTNSDIS	1.0	10.0	unscreened	-	2369_10:55582895-55582895 C>T_EDDLSAHNPLYKKNISQVSTNSDIS
10:61829958-61829958 C>T	0.0	2369	MELANOMA	-	-	-	-	ANK3	uc001jky.3,p.E3561K|NM_020987,p.E3561K|ENST00000280772,p.E3561K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jky.3	nonsynonymous SNV	exon37	c.G10681A	p.E3561K	RGDDEVFDSKSREDETKPFGLAVED	RGDDEVFDSKSRKDETKPFGLAVED	1.0	10.0	unscreened	-	2369_10:61829958-61829958 C>T_RGDDEVFDSKSRKDETKPFGLAVED
19:44890654-44890654 C>T	0.0	2369	MELANOMA	0.0041	-	-	-	ZNF285	NM_001291490,p.E430K|uc002ozd.4,p.E585K|ENST00000591679,p.E592K|ENST00000544719,p.E585K|uc010xxa.2,p.E592K|NM_001291488,p.E592K|NM_001291491,p.E430K|NM_001291489,p.E585K|NM_152354,p.E585K|ENST00000330997,p.E585K	retained_intron, protein_coding, nonsense_mediated_decay	uc010xxa.2	nonsynonymous SNV	exon4	c.G1774A	p.E592K	RGKDLLTHQRLHEQRETL	RGKDLLTHQRLHKQRETL	5.0	1.0	unscreened	-	2369_19:44890654-44890654 C>T_RGKDLLTHQRLHKQRETL
5:73144849-73144849 C>T	0.0	2369	MELANOMA	-	-	-	-	ARHGEF28	uc021yam.1,p.P562S|ENST00000513042,p.P562S|ENST00000426542,p.P562S|uc011csq.2,p.P562S|NM_001244364,p.P249S|ENST00000545377,p.P562S|ENST00000437974,p.P562S|uc010izf.3,p.P562S|ENST00000287898,p.P562S|uc003kcy.1,p.P562S|ENST00000296794,p.P562S|NM_001177693,p.P562S|ENST00000296799,p.P249S|NM_001080479,p.P562S|uc011csr.2,p.P249S	retained_intron, protein_coding, processed_transcript	uc021yam.1	nonsynonymous SNV	exon12	c.C1684T	p.P562S	SGVRSRSYSCSSPKISLGKTRLVRE	SGVRSRSYSCSSSKISLGKTRLVRE	1.0	10.0	unscreened	-	2369_5:73144849-73144849 C>T_SGVRSRSYSCSSSKISLGKTRLVRE
7:123101589-123101589 G>A	0.0	2369	MELANOMA	-	-	-	-	IQUB	NM_178827,p.S610F|ENST00000466202,p.S610F|NM_001282855,p.S610F|ENST00000324698,p.S610F|uc003vko.3,p.S610F|uc003vkn.3,p.S610F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vko.3	nonsynonymous SNV	exon11	c.C1829T	p.S610F	IYFCHSCQLYLPSTEFSVSSTSRRI	IYFCHSCQLYLPFTEFSVSSTSRRI	2.0	4.0	unscreened	-	2369_7:123101589-123101589 G>A_IYFCHSCQLYLPFTEFSVSSTSRRI
17:5036274-5036274 C>A	0.0	2369	MELANOMA	-	-	-	1	USP6	ENST00000575709,p.H89N|uc002gau.1,p.H89N|uc002gav.1,p.H89N|ENST00000572949,p.H89N|ENST00000574788,p.H89N|ENST00000332776,p.H89N|uc002gaw.3,p.H150N|NM_004505,p.H89N|ENST00000250066,p.H89N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gaw.3	nonsynonymous SNV	exon6	c.C448A	p.H150N	WMEMLGEWETYKHSSKLIDRVYKGI	WMEMLGEWETYKNSSKLIDRVYKGI	3.0	2.0	unscreened	-	2369_17:5036274-5036274 C>A_WMEMLGEWETYKNSSKLIDRVYKGI
22:43715961-43715961 C>T	0.0	2369	MELANOMA	-	-	-	-	SCUBE1	uc003bdt.2,p.D111N|uc003bdu.2,p.D111N|ENST00000290460,p.D111N|NM_173050,p.D111N|ENST00000360835,p.D111N	protein_coding, processed_transcript	uc003bdu.2	nonsynonymous SNV	exon3	c.G331A	p.D111N	RCTCFDGFMLAHDGHNCLDVDECQD	RCTCFDGFMLAHNGHNCLDVDECQD	2.0	8.0	unscreened	-	2369_22:43715961-43715961 C>T_RCTCFDGFMLAHNGHNCLDVDECQD
19:6896531-6896531 G>A	0.0	2369	MELANOMA	-	-	-	-	EMR1	uc010xji.3,p.D73N|NM_001256254,p.D73N|ENST00000381407,p.D73N	retained_intron, protein_coding, processed_transcript	uc010xji.3	nonsynonymous SNV	exon3	c.G217A	p.D73N	GFLSSNGQNHFKDPGVRCKDIDECT	GFLSSNGQNHFKNPGVRCKDIDECT	4.0	10.0	unscreened	-	2369_19:6896531-6896531 G>A_GFLSSNGQNHFKNPGVRCKDIDECT
19:6896531-6896531 G>A	0.0	2369	MELANOMA	-	-	-	-	EMR1	uc010dvb.4,p.D73N|NM_001256252,p.D73N|ENST00000381404,p.D73N	retained_intron, protein_coding, processed_transcript	uc010dvb.4	nonsynonymous SNV	exon3	c.G217A	p.D73N	GFLSSNGQNHFKDPGVRCKDINECL	GFLSSNGQNHFKNPGVRCKDINECL	4.0	10.0	unscreened	-	2369_19:6896531-6896531 G>A_GFLSSNGQNHFKNPGVRCKDINECL
19:6896531-6896531 G>A	0.0	2369	MELANOMA	-	-	-	-	EMR1	uc010xjj.3,p.D73N|ENST00000595026,p.D39N|NM_001256253,p.D73N|ENST00000450315,p.D73N|uc010dvc.4,p.D73N|ENST00000312053,p.D73N|NM_001974,p.D73N|ENST00000250572,p.D73N|NM_001256255,p.D73N|uc002mfw.4,p.D73N	retained_intron, protein_coding, processed_transcript	uc010xjj.3	nonsynonymous SNV	exon3	c.G217A	p.D73N	GFLSSNGQNHFKDPGVRCKDIDECS	GFLSSNGQNHFKNPGVRCKDIDECS	4.0	10.0	unscreened	-	2369_19:6896531-6896531 G>A_GFLSSNGQNHFKNPGVRCKDIDECS
16:633500-633500 C>T	1.0	2369	MELANOMA	-	-	-	-	PIGQ	uc010uuj.2,p.E96K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uuj.2	nonsynonymous SNV	exon1	c.G286A	p.E96K	SIPQMQGAVRLRELEGAWDWGVHPG	SIPQMQGAVRLRKLEGAWDWGVHPG	7.0	8.0	unscreened	-	2369_16:633500-633500 C>T_SIPQMQGAVRLRKLEGAWDWGVHPG
15:90167818-90167818 G>A	0.0	2369	MELANOMA	-	-	-	-	TICRR	ENST00000268138,p.G1426E|NM_152259,p.G1426E|uc021sug.1,p.G1425E|uc002boe.3,p.G1426E|ENST00000560985,p.G1425E	protein_coding, nonsense_mediated_decay	uc021sug.1	nonsynonymous SNV	exon20	c.G4274A	p.G1425E	PAAPTDSRDDQKGLSLSPQSPPERR	PAAPTDSRDDQKELSLSPQSPPERR	5.0	4.0	unscreened	-	2369_15:90167818-90167818 G>A_PAAPTDSRDDQKELSLSPQSPPERR
12:11286797-11286797 A>G	0.0	2369	MELANOMA	-	-	-	-	TAS2R30	uc009zhs.1,p.I16T|NM_001097643,p.I16T|ENST00000539585,p.I16T	protein_coding	uc009zhs.1	nonsynonymous SNV	exon1	c.T47C	p.I16T	FLPIIFSILIVVIFVIGNFANGFIA	FLPIIFSILIVVTFVIGNFANGFIA	2.0	2.0	unscreened	-	2369_12:11286797-11286797 A>G_FLPIIFSILIVVTFVIGNFANGFIA
1:247582217-247582217 C>T	0.0	2369	MELANOMA	-	-	-	-	NLRP3	ENST00000391828,p.L41F|NM_001079821,p.L41F|ENST00000366496,p.L41F|ENST00000366497,p.L41F|ENST00000336119,p.L41F|uc001icw.3,p.L41F|uc001icv.3,p.L41F|ENST00000391827,p.L41F|uc010pyw.2,p.L39F|NM_001127462,p.L41F|NM_001127461,p.L41F|NM_183395,p.L41F|NM_004895,p.L41F|uc001icr.3,p.L41F|ENST00000348069,p.L41F|NM_001243133,p.L39F|uc001icu.3,p.L41F|uc001ics.3,p.L41F|uc001ict.1,p.L39F	protein_coding, processed_transcript	uc010pyw.2	nonsynonymous SNV	exon1	c.C115T	p.L39F	LEDYPPQKGCIPLPRGQTEKADHVD	LEDYPPQKGCIPFPRGQTEKADHVD	2.0	7.0	unscreened	-	2369_1:247582217-247582217 C>T_LEDYPPQKGCIPFPRGQTEKADHVD
9:37304268-37304268 T>G	1.0	2369	MELANOMA	-	-	-	-	ZCCHC7	uc003zzq.3,p.C246W|NM_001289120,p.C246W|NM_032226,p.C246W|uc031tds.1,p.C245W|uc022bgu.1,p.C246W|uc010mlt.3,p.C245W|NM_001289119,p.C246W|NM_001289121,p.C246W|ENST00000336755,p.C246W	protein_coding, processed_transcript	uc031tds.1	nonsynonymous SNV	exon4	c.T735G	p.C245W	YYSANKNIICRNCDKRGHLSKNCPL	YYSANKNIICRNWDKRGHLSKNCPL	7.0	9.0	-	-	2369_9:37304268-37304268 T>G_YYSANKNIICRNWDKRGHLSKNCPL
3:39229823-39229823 C>T	0.0	2369	MELANOMA	-	-	-	-	XIRP1	NM_001198621,p.E372K|ENST00000396251,p.E372K|uc021wvz.1,p.E372K|uc003cjk.2,p.E372K|NM_194293,p.E372K|uc003cji.3,p.E372K|ENST00000340369,p.E372K	protein_coding	uc021wvz.1	nonsynonymous SNV	exon1	c.G1114A	p.E372K	DEEAGAEAPPKEEVVPGDVRSTLWL	DEEAGAEAPPKEKVVPGDVRSTLWL	1.0	5.0	unscreened	-	2369_3:39229823-39229823 C>T_DEEAGAEAPPKEKVVPGDVRSTLWL
3:195511774-195511774 A>T	0.0	2369	MELANOMA	-	-	-	2	MUC4	ENST00000470451,p.L2226H|ENST00000462323,p.L2226H|ENST00000463781,p.L2226H|NM_018406,p.L2226H|ENST00000479406,p.L2226H|ENST00000477756,p.L2226H|uc021xjp.1,p.L2226H|ENST00000478156,p.L2226H|ENST00000466475,p.L2226H|ENST00000480843,p.L2226H|ENST00000477086,p.L2226H|ENST00000475231,p.L2226H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.T6677A	p.L2226H	PSSASTGHAIPLLVTDTSSASTGQA	PSSASTGHAIPLHVTDTSSASTGQA	1.0	1.0	unscreened	-	2369_3:195511774-195511774 A>T_PSSASTGHAIPLHVTDTSSASTGQA
6:35089971-35089971 C>T	0.0	2369	MELANOMA	-	-	-	-	TCP11	ENST00000418521,p.M104I|NM_001261818,p.M134I|uc003ojz.1,p.M105I|uc003okc.2,p.M104I|NM_001093728,p.M180I|ENST00000512012,p.M167I|ENST00000311875,p.M180I|uc003okb.2,p.M104I|NM_001261821,p.M104I|uc011dsu.2,p.M175I|NM_018679,p.M105I|uc003okd.2,p.M180I|ENST00000373979,p.M105I|ENST00000412155,p.M129I|NM_001261820,p.M104I|uc011dsv.1,p.M129I|NM_001261819,p.M129I|ENST00000373974,p.M134I|NM_001261817,p.M175I|ENST00000444780,p.M175I|ENST00000486638,p.M26I|ENST00000244645,p.M105I|uc011dsw.1,p.M134I|uc003oka.2,p.M105I	protein_coding, processed_transcript, nonsense_mediated_decay	uc011dsw.1	nonsynonymous SNV	exon4	c.G402A	p.M134I	KVLYLSKYVLNMMALLCAPVRDEAV	KVLYLSKYVLNMIALLCAPVRDEAV	3.0	3.0	unscreened	-	2369_6:35089971-35089971 C>T_KVLYLSKYVLNMIALLCAPVRDEAV
1:20674846-20674846 G>A	0.0	2369	MELANOMA	-	-	-	-	VWA5B1	uc010odc.1,p.G853E|NM_001039500,p.G958E|uc009vps.2,p.G958E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010odc.1	nonsynonymous SNV	exon18	c.G2558A	p.G853E	RPQTMLGEDSAPGNDMEASPTALFS	RPQTMLGEDSAPENDMEASPTALFS	1.0	10.0	unscreened	-	2369_1:20674846-20674846 G>A_RPQTMLGEDSAPENDMEASPTALFS
1:20674846-20674846 G>A	0.0	2369	MELANOMA	-	-	-	-	VWA5B1	ENST00000375083,p.G957E	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000375083	nonsynonymous SNV	exon18	c.G2870A	p.G957E	RPQTMLGEDSAPGNGPRKCSQTLMG	RPQTMLGEDSAPENGPRKCSQTLMG	1.0	10.0	unscreened	-	2369_1:20674846-20674846 G>A_RPQTMLGEDSAPENGPRKCSQTLMG
17:10358358-10358358 C>T	0.0	2369	MELANOMA	-	-	-	-	MYH4	ENST00000255381,p.E779K|NM_017533,p.E779K|uc002gmn.3,p.E779K	protein_coding	uc002gmn.3	nonsynonymous SNV	exon21	c.G2335A	p.E779K	VFFKAGLLGTLEEMRDEKLAQLITR	VFFKAGLLGTLEKMRDEKLAQLITR	1.0	9.0	unscreened	-	2369_17:10358358-10358358 C>T_VFFKAGLLGTLEKMRDEKLAQLITR
16:76572031-76572031 G>A	0.0	2369	MELANOMA	-	-	-	-	CNTNAP4	ENST00000307431,p.G1004E|uc002fex.1,p.G1008E|NM_138994,p.G932E|uc010chb.1,p.G932E|ENST00000476707,p.G1008E|ENST00000478060,p.G932E|uc002fev.1,p.G869E|ENST00000377504,p.G956E	retained_intron, protein_coding, processed_transcript, TEC	uc010chb.1	nonsynonymous SNV	exon18	c.G2795A	p.G932E	GPFCSNEISAYFGSGSSVIYNFQEN	GPFCSNEISAYFESGSSVIYNFQEN	1.0	6.0	unscreened	-	2369_16:76572031-76572031 G>A_GPFCSNEISAYFESGSSVIYNFQEN
5:175533585-175533585 C>T	0.0	2369	MELANOMA	-	rs62389255	-	-	FAM153B	uc031sma.1,p.P76L|ENST00000512862,p.P76L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031sma.1	nonsynonymous SNV	exon8	c.C227T	p.P76L	TGVHMMQVDPATPAKKLEDSTITGS	TGVHMMQVDPATLAKKLEDSTITGS	1.0	2.0	unscreened	-	2369_5:175533585-175533585 C>T_TGVHMMQVDPATLAKKLEDSTITGS
10:26463190-26463190 G>A	0.0	2369	MELANOMA	-	-	-	-	MYO3A	NM_017433,p.E1333K|ENST00000265944,p.E1333K|uc001isn.2,p.E1333K	protein_coding, processed_transcript	uc001isn.2	nonsynonymous SNV	exon30	c.G3997A	p.E1333K	EGRGRLRHETVKERQVEPVTQAQEE	EGRGRLRHETVKKRQVEPVTQAQEE	1.0	10.0	unscreened	-	2369_10:26463190-26463190 G>A_EGRGRLRHETVKKRQVEPVTQAQEE
5:140050907-140050907 C>T	0.0	2369	MELANOMA	-	rs148639416	-	-	DND1	ENST00000542735,p.A345T|NM_194249,p.A345T|uc003lgt.3,p.A345T	protein_coding	uc003lgt.3	nonsynonymous SNV	exon4	c.G1033A	p.A345T	SESGANLLWSAGAEAGTMVKQ	SESGANLLWSAGTEAGTMVKQ	6.0	1.0	unscreened	-	2369_5:140050907-140050907 C>T_SESGANLLWSAGTEAGTMVKQ
6:28543895-28543895 G>A	0.0	2369	MELANOMA	-	-	-	-	ZBED9	uc003nlo.3,p.S196F|ENST00000452236,p.S196F|NM_052923,p.S196F	protein_coding, processed_transcript	uc003nlo.3	nonsynonymous SNV	exon3	c.C587T	p.S196F	HPLQDNGSFLWFSMMSQSMGGDNLS	HPLQDNGSFLWFFMMSQSMGGDNLS	4.0	9.0	unscreened	-	2369_6:28543895-28543895 G>A_HPLQDNGSFLWFFMMSQSMGGDNLS
1:175331865-175331865 C>T	0.0	2369	MELANOMA	-	-	ID=COSM165046;OCCURENCE=1(large_intestine),1(breast)	-	TNR	ENST00000263525,p.E930K|uc009wwu.1,p.E930K|NM_003285,p.E930K|ENST00000367674,p.E930K|uc001gkp.1,p.E930K	protein_coding	uc009wwu.1	nonsynonymous SNV	exon14	c.G2788A	p.E930K	FTITRLNPATEYEISLNSVRGREES	FTITRLNPATEYKISLNSVRGREES	1.0	6.0	unscreened	-	2369_1:175331865-175331865 C>T_FTITRLNPATEYKISLNSVRGREES
17:39577225-39577225 G>A	0.0	2369	MELANOMA	-	-	-	-	KRT37	ENST00000225550,p.P419S|NM_003770,p.P419S|uc002hwp.1,p.P419S	protein_coding	uc002hwp.1	nonsynonymous SNV	exon7	c.C1255T	p.P419S	LLESEDCKLPCNPCSTPASCTSCPS	LLESEDCKLPCNSCSTPASCTSCPS	1.0	9.0	unscreened	-	2369_17:39577225-39577225 G>A_LLESEDCKLPCNSCSTPASCTSCPS
2:202523230-202523230 A>G	0.0	2369	MELANOMA	-	-	-	-	MPP4	ENST00000409143,p.F309L|ENST00000315506,p.F323L|ENST00000396886,p.F292L|uc010zhq.2,p.F336L|uc010zhs.2,p.F292L|uc010zht.2,p.F309L|uc010ftk.3,p.F323L	retained_intron, protein_coding, nonsense_mediated_decay	uc010zht.2	nonsynonymous SNV	exon11	c.T925C	p.F309L	HTCLKSTLYKEEFVGYGQKFFIAGF	HTCLKSTLYKEELVGYGQKFFIAGF	1.0	4.0	unscreened	-	2369_2:202523230-202523230 A>G_HTCLKSTLYKEELVGYGQKFFIAGF
9:104390554-104390554 C>T	0.0	2369	MELANOMA	-	-	-	-	GRIN3A	ENST00000361820,p.G828R|uc004bbq.1,p.G828R|NM_133445,p.G828R|uc004bbp.2,p.G828R	protein_coding, processed_transcript	uc004bbq.1	nonsynonymous SNV	exon4	c.G2482A	p.G828R	YMRRYNVPATPDGVEYLKNDPEKLD	YMRRYNVPATPDRVEYLKNDPEKLD	1.0	6.0	unscreened	-	2369_9:104390554-104390554 C>T_YMRRYNVPATPDRVEYLKNDPEKLD
19:42492267-42492267 C>T	0.0	2369	MELANOMA	-	-	ID=COSM222383;OCCURENCE=1(skin)	-	ATP1A3	uc010xwh.3,p.E73K|uc002osh.4,p.E60K|ENST00000302102,p.E60K|ENST00000473086,p.E30K|uc010xwf.2,p.E71K|uc010xwg.2,p.E30K|ENST00000602133,p.E30K|NM_152296,p.E60K|ENST00000545399,p.E73K|NM_001256213,p.E71K|NM_001256214,p.E73K|ENST00000543770,p.E71K|ENST00000441343,p.E60K|uc002osg.4,p.E60K	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc010xwh.3	nonsynonymous SNV	exon4	c.G217A	p.E73K	DCVQGLTHSKAQEILARDGPNALTP	DCVQGLTHSKAQKILARDGPNALTP	3.0	9.0	unscreened	-	2369_19:42492267-42492267 C>T_DCVQGLTHSKAQKILARDGPNALTP
6:45390487-45390504 GGCGGCGGCGGCGGCTGC>-	0.0	2369	MELANOMA	-	-	-	-	RUNX2	uc011dvy.2,p.72_78del|NM_001015051,p.72_78del|uc011dvx.2,p.72_78del|ENST00000352853,p.140_146del|ENST00000541979,p.140_146del|ENST00000576263,p.72_78del|ENST00000465038,p.72_78del|uc003oxt.3,p.58_64del|NM_001024630,p.72_78del|ENST00000359524,p.58_64del|ENST00000371432,p.58_64del|NM_001278478,p.58_64del|ENST00000371438,p.72_78del|ENST00000478660,p.58_64del|ENST00000371436,p.72_78del	protein_coding, processed_transcript, nonsense_mediated_decay	uc011dvy.2	nonframeshift deletion	exon3	c.216_233del	p.72_78del	QQQQQQQQQQQQEAAAAAAAAAAAA	QQQQQQQQQQQQEAAAAAAAAAAAV	4.0	2.0	unscreened	-	2369_6:45390487-45390504 GGCGGCGGCGGCGGCTGC>-_QQQQQQQQQQQQEAAAAAAAAAAAV
X:83128120-83128120 G>A	0.0	2369	MELANOMA	-	-	-	-	CYLC1	NM_021118,p.G135E|uc004eei.2,p.G135E|uc004eeh.2,p.G134E|ENST00000329312,p.G135E	protein_coding	uc004eei.2	nonsynonymous SNV	exon4	c.G404A	p.G135E	GGTPLKKDSKKKGGSYATNPESKQI	GGTPLKKDSKKKEGSYATNPESKQI	1.0	10.0	unscreened	-	2369_X:83128120-83128120 G>A_GGTPLKKDSKKKEGSYATNPESKQI
1:200956212-200956212 C>T	0.0	2369	MELANOMA	-	-	-	-	KIF21B	NM_017596,p.E1176K|uc001gvr.2,p.E1176K|uc001gvs.2,p.E1176K|NM_001252103,p.E1176K|uc010ppn.2,p.E1176K|NM_001252102,p.E1176K|ENST00000422435,p.E1176K|NM_001252100,p.E1176K|uc009wzl.2,p.E1176K|ENST00000332129,p.E1176K|ENST00000360529,p.E1176K|ENST00000461742,p.E1176K	retained_intron, protein_coding, nonsense_mediated_decay	uc010ppn.2	nonsynonymous SNV	exon25	c.G3526A	p.E1176K	ITKSLASLVEIKEDGVGFSVRDPYY	ITKSLASLVEIKKDGVGFSVRDPYY	2.0	6.0	unscreened	-	2369_1:200956212-200956212 C>T_ITKSLASLVEIKKDGVGFSVRDPYY
19:22497663-22497663 C>T	0.0	2369	MELANOMA	-	-	-	-	ZNF729	NM_001242680,p.H482Y|uc021urs.1,p.H482Y|ENST00000601693,p.H482Y|ENST00000357491,p.H482Y	protein_coding	uc021urs.1	nonsynonymous SNV	exon4	c.C1444T	p.H482Y	RQSSHLTRHKAIHTGEKPYKCEECG	RQSSHLTRHKAIYTGEKPYKCEECG	1.0	8.0	unscreened	-	2369_19:22497663-22497663 C>T_RQSSHLTRHKAIYTGEKPYKCEECG
7:45123881-45123881 C>T	0.0	2369	MELANOMA	-	-	-	-	NACAD	ENST00000490531,p.G633D|NM_001146334,p.G633D|uc003tmt.3,p.G633D	retained_intron, protein_coding	uc003tmt.3	nonsynonymous SNV	exon2	c.G1898A	p.G633D	AAATIVSQQAEEGLTLPQDSVMTPP	AAATIVSQQAEEDLTLPQDSVMTPP	2.0	1.0	unscreened	-	2369_7:45123881-45123881 C>T_AAATIVSQQAEEDLTLPQDSVMTPP
3:145791123-145791123 T>A	1.0	2369	MELANOMA	-	-	-	-	PLOD2	uc003evq.1,p.Y225F|uc003evr.1,p.Y565F|ENST00000461497,p.Y225F|ENST00000494950,p.Y510F|ENST00000360060,p.Y544F|NM_000935,p.Y544F|uc003evs.1,p.Y544F|ENST00000282903,p.Y565F|NM_182943,p.Y565F|uc011bnm.1,p.Y510F	retained_intron, protein_coding, nonsense_mediated_decay	uc011bnm.1	nonsynonymous SNV	exon16	c.A1529T	p.Y510F	QIFENPVDWKEKYINRDYSKIFTEN	QIFENPVDWKEKFINRDYSKIFTEN	6.0	2.0	-	-	2369_3:145791123-145791123 T>A_QIFENPVDWKEKFINRDYSKIFTEN
19:49657711-49657713 CAT>-	0.0	2369	MELANOMA	-	-	ID=COSM1631013;OCCURENCE=1(liver)	-	HRC	uc002pmv.3,p.261_262del|ENST00000252825,p.261_262del|ENST00000595625,p.261_262del|NM_002152,p.261_262del	retained_intron, protein_coding	uc002pmv.3	nonframeshift deletion	exon1	c.782_784del	p.261_262del	DDDDDDDDDDDDDVSIEYRHQAHRH	DDDDDDDDDDDDVSIEYRHQAHRHQ	3.0	2.0	unscreened	-	2369_19:49657711-49657713 CAT>-_DDDDDDDDDDDDVSIEYRHQAHRHQ
15:90167817-90167817 G>A	0.0	2369	MELANOMA	-	-	-	-	TICRR	NM_152259,p.G1426R|uc002boe.3,p.G1426R|ENST00000268138,p.G1426R|uc021sug.1,p.G1425R|ENST00000560985,p.G1425R	protein_coding, nonsense_mediated_decay	uc021sug.1	nonsynonymous SNV	exon20	c.G4273A	p.G1425R	PAAPTDSRDDQKGLSLSPQSPPERR	PAAPTDSRDDQKRLSLSPQSPPERR	5.0	4.0	unscreened	-	2369_15:90167817-90167817 G>A_PAAPTDSRDDQKRLSLSPQSPPERR
11:130343489-130343489 C>T	0.0	2369	MELANOMA	-	-	-	-	ADAMTS15	ENST00000299164,p.P876S|NM_139055,p.P876S|uc010scd.2,p.P876S	protein_coding	uc010scd.2	nonsynonymous SNV	exon8	c.C2626T	p.P876S	VDCRGSAGQRTVPACDAAHRPVETQ	VDCRGSAGQRTVSACDAAHRPVETQ	1.0	9.0	unscreened	-	2369_11:130343489-130343489 C>T_VDCRGSAGQRTVSACDAAHRPVETQ
3:195512750-195512750 C>G	0.0	2369	MELANOMA	-	-	-	2	MUC4	uc021xjp.1,p.D1901H|ENST00000479406,p.D1901H|NM_018406,p.D1901H|ENST00000477086,p.D1901H|ENST00000478156,p.D1901H|ENST00000466475,p.D1901H|ENST00000462323,p.D1901H|ENST00000463781,p.D1901H|ENST00000480843,p.D1901H|ENST00000475231,p.D1901H|ENST00000477756,p.D1901H|ENST00000470451,p.D1901H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G5701C	p.D1901H	LPVTDTNSASTGDTTPLHVTDASSV	LPVTDTNSASTGHTTPLHVTDASSV	1.0	1.0	unscreened	-	2369_3:195512750-195512750 C>G_LPVTDTNSASTGHTTPLHVTDASSV
19:38384587-38384587 C>T	0.0	2369	MELANOMA	-	-	-	-	WDR87	ENST00000303868,p.D547N|uc010efu.2,p.D547N|NM_001291088,p.D586N|NM_031951,p.D547N|uc002ohj.2,p.D586N|ENST00000447313,p.D586N	retained_intron, protein_coding	uc010efu.2	nonsynonymous SNV	exon4	c.G1639A	p.D547N	TETNCLRLWKFHDFLSSGSQNGLKF	TETNCLRLWKFHNFLSSGSQNGLKF	1.0	8.0	unscreened	-	2369_19:38384587-38384587 C>T_TETNCLRLWKFHNFLSSGSQNGLKF
6:10802141-10802141 C>T	0.0	2369	MELANOMA	-	-	-	-	MAK	uc021yll.1,p.R272Q|ENST00000474039,p.R272Q|ENST00000538030,p.R272Q|ENST00000313243,p.R272Q|uc003mzm.3,p.R272Q|NM_005906,p.R272Q|uc021ylk.1,p.R272Q|NM_001242957,p.R272Q|NM_001242385,p.R272Q|ENST00000354489,p.R272Q	protein_coding, processed_transcript	uc021yll.1	nonsynonymous SNV	exon8	c.G815A	p.R272Q	LMTEMLNWDPKKRPTASQALKHPYF	LMTEMLNWDPKKQPTASQALKHPYF	1.0	3.0	unscreened	-	2369_6:10802141-10802141 C>T_LMTEMLNWDPKKQPTASQALKHPYF
19:24115772-24115772 G>T	0.0	2369	MELANOMA	-	-	-	-	ZNF726	ENST00000322487,p.C285F|uc021urw.1,p.C285F|NM_001244038,p.C285F|ENST00000594466,p.C285F	protein_coding	uc021urw.1	nonsynonymous SNV	exon4	c.G854T	p.C285F	TIHKRIHTGEKPCKCEECGKAFSQP	TIHKRIHTGEKPFKCEECGKAFSQP	4.0	1.0	unscreened	-	2369_19:24115772-24115772 G>T_TIHKRIHTGEKPFKCEECGKAFSQP
9:33796673-33796673 G>A	0.0	2369	MELANOMA	-	-	-	-	PRSS3	ENST00000457896,p.V37I|uc003zti.4,p.V39I|ENST00000342836,p.V39I|NM_001197097,p.V39I	protein_coding, processed_transcript	uc003zti.4	nonsynonymous SNV	exon3	c.G115A	p.V39I	LIAVPFDDDDKIVGGYTCEENSLPY	LIAVPFDDDDKIIGGYTCEENSLPY	1.0	1.0	unscreened	-	2369_9:33796673-33796673 G>A_LIAVPFDDDDKIIGGYTCEENSLPY
9:33796673-33796673 G>A	0.0	2369	MELANOMA	-	-	-	-	PRSS3	NM_002771,p.V25I|ENST00000379405,p.V25I|uc003ztl.4,p.V25I	protein_coding, processed_transcript	uc003ztl.4	nonsynonymous SNV	exon2	c.G73A	p.V25I	AVAVPFDDDDKIVGGYTCEENSLPY	AVAVPFDDDDKIIGGYTCEENSLPY	1.0	1.0	unscreened	-	2369_9:33796673-33796673 G>A_AVAVPFDDDDKIIGGYTCEENSLPY
9:33796673-33796673 G>A	0.0	2369	MELANOMA	-	-	-	-	PRSS3	NM_007343,p.V82I|ENST00000361005,p.V82I|uc003ztj.4,p.V82I	protein_coding, processed_transcript	uc003ztj.4	nonsynonymous SNV	exon2	c.G244A	p.V82I	TVAVPFDDDDKIVGGYTCEENSLPY	TVAVPFDDDDKIIGGYTCEENSLPY	1.0	1.0	unscreened	-	2369_9:33796673-33796673 G>A_TVAVPFDDDDKIIGGYTCEENSLPY
9:33796673-33796673 G>A	0.0	2369	MELANOMA	-	-	-	-	PRSS3	uc022bfu.1,p.V18I|NM_001197098,p.V18I|ENST00000429677,p.V18I	protein_coding, processed_transcript	uc022bfu.1	nonsynonymous SNV	exon2	c.G52A	p.V18I	EVAVPFDDDDKIVGGYTCEENSLPY	EVAVPFDDDDKIIGGYTCEENSLPY	1.0	1.0	unscreened	-	2369_9:33796673-33796673 G>A_EVAVPFDDDDKIIGGYTCEENSLPY
13:103346730-103346730 C>T	0.0	2369	MELANOMA	-	-	-	-	METTL21C	uc001vpj.4,p.G40E|ENST00000267273,p.G40E|NM_001010977,p.G40E	protein_coding	uc001vpj.4	nonsynonymous SNV	exon1	c.G119A	p.G40E	EKKGAPQKDSTGGVLEESNKIEPSL	EKKGAPQKDSTGEVLEESNKIEPSL	1.0	7.0	unscreened	-	2369_13:103346730-103346730 C>T_EKKGAPQKDSTGEVLEESNKIEPSL
6:31323953-31323953 C>G	1.0	2369	MELANOMA	0.67	-	-	-	HLA-B	uc010jso.2,p.E176Q	retained_intron, protein_coding, nonsense_mediated_decay	uc010jso.2	nonsynonymous SNV	exon2	c.G526C	p.E176Q	LRRYLENGKDKLERAGTRGSGEPSP	LRRYLENGKDKLQRAGTRGSGEPSP	10.0	1.0	unscreened	-	2369_6:31323953-31323953 C>G_LRRYLENGKDKLQRAGTRGSGEPSP
17:21319369-21319369 G>A	0.0	2369	MELANOMA	-	-	-	-	KCNJ12,KCNJ18	NM_001194958,p.E239K|uc021tst.1,p.E239K|uc021tss.1,p.E239K|ENST00000331718,p.E239K|ENST00000583088,p.E239K|uc002gyv.1,p.E239K|NM_021012,p.E239K	protein_coding	uc021tst.1	nonsynonymous SNV	exon1	c.G715A	p.E239K	HVRAQLIKPRVTEEGEYIPLDQIDI	HVRAQLIKPRVTKEGEYIPLDQIDI	1.0	2.0	unscreened	-	2369_17:21319369-21319369 G>A_HVRAQLIKPRVTKEGEYIPLDQIDI
15:75557692-75557692 G>A	0.0	2369	MELANOMA	-	rs3985404	-	-	GOLGA6C	ENST00000300576,p.R229Q|NM_001164404,p.R229Q|uc002azs.2,p.R229Q	protein_coding	uc002azs.2	nonsynonymous SNV	exon9	c.G686A	p.R229Q	QVTESLKQVQLERDEYAKHIKGERA	QVTESLKQVQLEQDEYAKHIKGERA	1.0	1.0	unscreened	-	2369_15:75557692-75557692 G>A_QVTESLKQVQLEQDEYAKHIKGERA
3:169540325-169540325 G>A	0.0	2369	MELANOMA	-	-	-	-	LRRIQ4	ENST00000340806,p.E206K|NM_001080460,p.E206K|uc003fgb.3,p.E206K	protein_coding	uc003fgb.3	nonsynonymous SNV	exon1	c.G616A	p.E206K	DLDENKIGAIPEEIGHLTGLQKFYM	DLDENKIGAIPEKIGHLTGLQKFYM	1.0	6.0	unscreened	-	2369_3:169540325-169540325 G>A_DLDENKIGAIPEKIGHLTGLQKFYM
19:21476951-21476951 C>G	0.0	2369	MELANOMA	-	-	-	-	ZNF708	uc002npq.1,p.V273L|NM_001297561,p.V209L|uc010ecs.1,p.V209L|NM_001297560,p.V209L|NM_021269,p.V273L|ENST00000356929,p.V273L|uc002npr.1,p.V209L	protein_coding, nonsense_mediated_decay	uc010ecs.1	nonsynonymous SNV	exon4	c.G625C	p.V209L	FNRSSNLTKHKIVHTGEKPYKCEEC	FNRSSNLTKHKILHTGEKPYKCEEC	6.0	1.0	unscreened	-	2369_19:21476951-21476951 C>G_FNRSSNLTKHKILHTGEKPYKCEEC
3:121712239-121712239 G>A	0.0	2369	MELANOMA	-	-	-	-	ILDR1	ENST00000393631,p.R364W|uc010hrg.3,p.R364W|uc003eer.3,p.R409W|ENST00000344209,p.R453W|uc003ees.3,p.R453W|NM_001199799,p.R453W|ENST00000273691,p.R409W|NM_175924,p.R409W|NM_001199800,p.R364W|ENST00000462014,p.R421W|uc003eeq.3,p.R421W	protein_coding, processed_transcript	uc010hrg.3	nonsynonymous SNV	exon5	c.C1090T	p.R364W	SRCQERPRRPSPRESTQRHGRRRRH	SRCQERPRRPSPWESTQRHGRRRRH	1.0	6.0	unscreened	-	2369_3:121712239-121712239 G>A_SRCQERPRRPSPWESTQRHGRRRRH
13:20067011-20067011 A>C	0.0	2369	MELANOMA	-	-	-	-	TPTE2	ENST00000462409,p.L33R	protein_coding, nonsense_mediated_decay	ENST00000462409	nonsynonymous SNV	exon3	c.T98G	p.L33R	ESPHTSEFKGAALVSPISKRWTHLV	ESPHTSEFKGAARVSPISKRWTHLV	2.0	1.0	unscreened	-	2369_13:20067011-20067011 A>C_ESPHTSEFKGAARVSPISKRWTHLV
3:195506186-195506186 C>T	0.0	2369	MELANOMA	-	-	-	2	MUC4	uc021xjp.1,p.A4089T|NM_018406,p.A4089T|ENST00000477086,p.A4089T|ENST00000475231,p.A4089T|ENST00000462323,p.A4089T|ENST00000463781,p.A4089T|ENST00000480843,p.A4089T|ENST00000466475,p.A4089T|ENST00000478156,p.A4089T|ENST00000477756,p.A4089T|ENST00000470451,p.A4089T|ENST00000479406,p.A4089T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G12265A	p.A4089T	DTSTLPVTDASSASTGHATPLPLTS	DTSTLPVTDASSTSTGHATPLPLTS	1.0	1.0	unscreened	-	2369_3:195506186-195506186 C>T_DTSTLPVTDASSTSTGHATPLPLTS
1:192316502-192316502 C>T	0.0	2369	MELANOMA	-	-	-	-	RGS21	ENST00000417209,p.T24M|NM_001039152,p.T24M|uc001gsh.3,p.T24M	protein_coding	uc001gsh.3	nonsynonymous SNV	exon3	c.C71T	p.T24M	TAETMTWSENMDTLLANQAGLDAFR	TAETMTWSENMDMLLANQAGLDAFR	1.0	7.0	unscreened	-	2369_1:192316502-192316502 C>T_TAETMTWSENMDMLLANQAGLDAFR
14:20585722-20585722 G>A	0.0	2369	MELANOMA	-	-	-	-	OR4K17	uc001vwo.1,p.D53N|ENST00000315543,p.D53N|NM_001004715,p.D53N	protein_coding	uc001vwo.1	nonsynonymous SNV	exon1	c.G157A	p.D53N	SEFILLGLTSSQDVEFLLFALFSVI	SEFILLGLTSSQNVEFLLFALFSVI	1.0	6.0	unscreened	-	2369_14:20585722-20585722 G>A_SEFILLGLTSSQNVEFLLFALFSVI
6:31323953-31323953 C>G	1.0	2369	MELANOMA	0.67	-	-	-	HLA-B	ENST00000412585,p.E204Q|NM_005514,p.E204Q|uc003ntg.1,p.E83Q|uc031snl.1,p.E204Q|ENST00000434333,p.E215Q|uc003nth.2,p.E204Q	retained_intron, protein_coding, nonsense_mediated_decay	uc031snl.1	nonsynonymous SNV	exon3	c.G610C	p.E204Q	LRRYLENGKDKLERADPPKTHVTHH	LRRYLENGKDKLQRADPPKTHVTHH	10.0	1.0	unscreened	-	2369_6:31323953-31323953 C>G_LRRYLENGKDKLQRADPPKTHVTHH
19:40095951-40095951 G>A	0.0	2369	MELANOMA	-	-	-	-	LGALS13	ENST00000600141,p.E46K|NM_013268,p.E76K|ENST00000221797,p.E76K|uc002omb.3,p.E76K	retained_intron, protein_coding	uc002omb.3	nonsynonymous SNV	exon3	c.G226A	p.E76K	MNRREFGIWMLEETTDYVPFEDGKQ	MNRREFGIWMLEKTTDYVPFEDGKQ	1.0	9.0	unscreened	-	2369_19:40095951-40095951 G>A_MNRREFGIWMLEKTTDYVPFEDGKQ
4:138451252-138451252 G>A	0.0	2369	MELANOMA	-	-	-	-	PCDH18	ENST00000507846,p.P444L|NM_019035,p.P664L|uc003ihf.4,p.P657L|uc003ihg.4,p.P444L|ENST00000412923,p.P664L|ENST00000344876,p.P664L|uc003ihe.4,p.P664L|NM_001300828,p.P664L	protein_coding	uc003ihg.4	nonsynonymous SNV	exon2	c.C1331T	p.P444L	WELSVIIQDKGNPQLHTKVLLKCMI	WELSVIIQDKGNLQLHTKVLLKCMI	1.0	7.0	unscreened	-	2369_4:138451252-138451252 G>A_WELSVIIQDKGNLQLHTKVLLKCMI
4:138449692-138449692 C>T	0.0	2369	MELANOMA	-	-	-	-	PCDH18	ENST00000511115,p.D74N|uc011cgz.2,p.D105N|uc003ihf.4,p.D886N|ENST00000507846,p.D673N|ENST00000412923,p.D893N|uc003ihg.4,p.D673N|NM_001300828,p.D893N|ENST00000510305,p.D105N|ENST00000344876,p.D894N|uc011cha.2,p.D74N|uc003ihe.4,p.D894N|NM_019035,p.D894N	protein_coding	uc011cha.2	nonsynonymous SNV	exon3	c.G220A	p.D74N	DSDYDLGRDSPIDRLLGEGFSDLFL	DSDYDLGRDSPINRLLGEGFSDLFL	1.0	8.0	unscreened	-	2369_4:138449692-138449692 C>T_DSDYDLGRDSPINRLLGEGFSDLFL
8:100994260-100994260 G>A	0.0	2369	MELANOMA	-	-	-	-	RGS22	NM_015668,p.P1089S|uc003yja.1,p.P908S|uc003yjb.1,p.P1089S|uc022azf.1,p.P478S|NM_001286693,p.P908S|uc003yjc.1,p.P1077S|NM_001286692,p.P1077S|ENST00000360863,p.P1089S|ENST00000523287,p.P908S|ENST00000523437,p.P1077S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022azf.1	nonsynonymous SNV	exon11	c.C1432T	p.P478S	TTIINCFINSSIPPALQIDIPVEQA	TTIINCFINSSISPALQIDIPVEQA	1.0	6.0	unscreened	-	2369_8:100994260-100994260 G>A_TTIINCFINSSISPALQIDIPVEQA
4:141315165-141315165 G>A	0.0	2369	MELANOMA	-	-	-	-	CLGN	uc003iii.3,p.P394S|NM_004362,p.P394S|ENST00000325617,p.P394S|NM_001130675,p.P394S|uc011chi.2,p.P394S|ENST00000537281,p.P394S|ENST00000414773,p.P394S	protein_coding	uc011chi.2	nonsynonymous SNV	exon12	c.C1180T	p.P394S	YQGIWSPRKIPNPDYFEDDHPFLLT	YQGIWSPRKIPNSDYFEDDHPFLLT	1.0	3.0	unscreened	-	2369_4:141315165-141315165 G>A_YQGIWSPRKIPNSDYFEDDHPFLLT
8:110420310-110420310 G>A	0.0	2369	MELANOMA	-	-	-	-	PKHD1L1	uc003yne.3,p.E616K|NM_177531,p.E616K|ENST00000378402,p.E616K	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon18	c.G1846A	p.E616K	RGDFDLLGYEVVEGNNVTLDITEQT	RGDFDLLGYEVVKGNNVTLDITEQT	1.0	6.0	unscreened	-	2369_8:110420310-110420310 G>A_RGDFDLLGYEVVKGNNVTLDITEQT
8:14412428-14412428 C>T	0.0	2369	MELANOMA	-	-	-	-	SGCZ	NM_139167,p.R16Q|ENST00000382080,p.R16Q|uc003wwq.3,p.R16Q	protein_coding	uc003wwq.3	nonsynonymous SNV	exon2	c.G47A	p.R16Q	STNLDIEELKMTREQYILATQQNNL	STNLDIEELKMTQEQYILATQQNNL	1.0	9.0	unscreened	-	2369_8:14412428-14412428 C>T_STNLDIEELKMTQEQYILATQQNNL
8:40532279-40532279 G>A	0.0	2369	MELANOMA	-	-	-	-	ZMAT4	ENST00000297737,p.A174V|ENST00000519406,p.A174V|uc003xnr.3,p.A174V|NM_024645,p.A174V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xnr.3	nonsynonymous SNV	exon5	c.C521T	p.A174V	QHYDGKKHKKNAARVALLEQLGTTL	QHYDGKKHKKNAVRVALLEQLGTTL	1.0	7.0	unscreened	-	2369_8:40532279-40532279 G>A_QHYDGKKHKKNAVRVALLEQLGTTL
2:21233277-21233277 C>T	0.0	2369	MELANOMA	-	-	-	-	APOB	NM_000384,p.D2155N|ENST00000233242,p.D2155N|uc002red.3,p.D2155N	protein_coding	uc002red.3	nonsynonymous SNV	exon26	c.G6463A	p.D2155N	TALTKKYRITENDIQIALDDAKINF	TALTKKYRITENNIQIALDDAKINF	1.0	7.0	unscreened	-	2369_2:21233277-21233277 C>T_TALTKKYRITENNIQIALDDAKINF
8:8234868-8234868 ->GCCGCT	0.0	2369	MELANOMA	-	-	-	-	SGK223	ENST00000330777,p.A351delinsSGA|ENST00000520004,p.A351delinsSGA|NM_001080826,p.A351delinsSGA|uc003wsh.4,p.A351delinsSGA	protein_coding	uc003wsh.4	nonframeshift insertion	exon2	c.1050_1051insAGCGGC	p.A351delinsSGA	DGLSCGSGSGSGASSPFVPHLESDY	DGLSCGSGSGSGSGASSPFVPHLES	3.0	2.0	unscreened	-	2369_8:8234868-8234868 ->GCCGCT_DGLSCGSGSGSGSGASSPFVPHLES
1:222920400-222920400 G>A	0.0	2369	MELANOMA	-	-	-	-	FAM177B	ENST00000391880,p.R73Q	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000391880	nonsynonymous SNV	exon4	c.G218A	p.R73Q	LSWGPYLRFWAGRIASTSFSMLSLQ	LSWGPYLRFWAGQIASTSFSMLSLQ	2.0	5.0	unscreened	-	2369_1:222920400-222920400 G>A_LSWGPYLRFWAGQIASTSFSMLSLQ
15:50171586-50171586 C>T	0.0	2369	MELANOMA	-	-	-	-	ATP8B4	ENST00000284509,p.G923E|uc010ber.3,p.G796E|uc001zxu.3,p.G923E|NM_024837,p.G923E|ENST00000559829,p.G923E|uc010ufd.2,p.G733E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ufd.2	nonsynonymous SNV	exon24	c.G2198A	p.G733E	NIVYTSLPVLAMGIFDQDVSDQNSV	NIVYTSLPVLAMEIFDQDVSDQNSV	3.0	3.0	unscreened	-	2369_15:50171586-50171586 C>T_NIVYTSLPVLAMEIFDQDVSDQNSV
12:117962750-117962750 C>T	0.0	2369	MELANOMA	-	-	ID=COSM98914;OCCURENCE=1(stomach)	-	KSR2	uc001two.2,p.R680Q|NM_173598,p.R680Q|ENST00000302438,p.R406Q|ENST00000339824,p.R709Q|ENST00000425217,p.R680Q	retained_intron, protein_coding, processed_transcript	uc001two.2	nonsynonymous SNV	exon14	c.G2039A	p.R680Q	ERDNEDQLKAFKREVMAYRQTRHEN	ERDNEDQLKAFKQEVMAYRQTRHEN	1.0	9.0	unscreened	-	2369_12:117962750-117962750 C>T_ERDNEDQLKAFKQEVMAYRQTRHEN
3:195507577-195507577 G>T	0.0	2369	MELANOMA	-	-	-	2	MUC4	ENST00000466475,p.A3625E|ENST00000478156,p.A3625E|ENST00000477756,p.A3625E|ENST00000480843,p.A3625E|ENST00000462323,p.A3625E|NM_018406,p.A3625E|ENST00000477086,p.A3625E|ENST00000470451,p.A3625E|ENST00000463781,p.A3625E|uc021xjp.1,p.A3625E|ENST00000475231,p.A3625E|ENST00000479406,p.A3625E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C10874A	p.A3625E	DTTRLPVTDTSSASTGQATPLPVTS	DTTRLPVTDTSSESTGQATPLPVTS	1.0	1.0	unscreened	-	2369_3:195507577-195507577 G>T_DTTRLPVTDTSSESTGQATPLPVTS
12:48376913-48376913 G>A	0.0	2369	MELANOMA	-	-	-	1	COL2A1	uc001rqv.3,p.P617L|ENST00000380518,p.P686L|ENST00000337299,p.P617L|NM_001844,p.P686L|uc001rqu.3,p.P686L|NM_033150,p.P617L	retained_intron, protein_coding, processed_transcript	uc001rqv.3	nonsynonymous SNV	exon31	c.C1850T	p.P617L	PGEGGKPGDQGVPGEAGAPGLVGPR	PGEGGKPGDQGVLGEAGAPGLVGPR	3.0	3.0	unscreened	-	2369_12:48376913-48376913 G>A_PGEGGKPGDQGVLGEAGAPGLVGPR
13:20067011-20067011 A>C	0.0	2369	MELANOMA	-	-	-	-	TPTE2	ENST00000390680,p.L33R|ENST00000255310,p.L33R|uc001ume.3,p.L33R|NM_130785,p.L33R	protein_coding, nonsense_mediated_decay	uc001ume.3	nonsynonymous SNV	exon4	c.T98G	p.L33R	ESPHTSEFKGAALVSPISKRIFGVF	ESPHTSEFKGAARVSPISKRIFGVF	2.0	1.0	unscreened	-	2369_13:20067011-20067011 A>C_ESPHTSEFKGAARVSPISKRIFGVF
21:37595546-37595546 G>A	1.0	2369	MELANOMA	-	-	-	-	DOPEY2	ENST00000399151,p.R423K|NM_005128,p.R423K|uc011aeb.2,p.R423K|uc002yvg.3,p.R423K	retained_intron, protein_coding, processed_transcript	uc011aeb.2	nonsynonymous SNV	exon10	c.G1268A	p.R423K	SGNSLISAIKENRNASEIVKTVNLL	SGNSLISAIKENKNASEIVKTVNLL	6.0	9.0	-	-	2369_21:37595546-37595546 G>A_SGNSLISAIKENKNASEIVKTVNLL
17:72588505-72588505 G>A	0.0	2369	MELANOMA	-	-	ID=COSM1710747;OCCURENCE=1(skin)	-	C17orf77	ENST00000392620,p.G107E|uc021ucq.1,p.G107E|ENST00000328023,p.G107E|NM_152460,p.G107E|uc002jla.1,p.G107E	protein_coding	uc021ucq.1	nonsynonymous SNV	exon1	c.G320A	p.G107E	CYICSYFSFYILGEKRCHSLKRLRY	CYICSYFSFYILEEKRCHSLKRLRY	5.0	9.0	unscreened	-	2369_17:72588505-72588505 G>A_CYICSYFSFYILEEKRCHSLKRLRY
4:87749255-87749255 C>T	0.0	2369	MELANOMA	-	-	-	-	SLC10A6	uc003hqd.2,p.G218R|ENST00000273905,p.G218R|NM_197965,p.G218R	protein_coding, nonsense_mediated_decay	uc003hqd.2	nonsynonymous SNV	exon4	c.G652A	p.G218R	LVVAVAGVVLAKGSWNSDITLLTIS	LVVAVAGVVLAKRSWNSDITLLTIS	1.0	8.0	unscreened	-	2369_4:87749255-87749255 C>T_LVVAVAGVVLAKRSWNSDITLLTIS
6:76023890-76023890 T>G	0.0	2369	MELANOMA	-	-	-	-	FILIP1	uc003phy.1,p.K553T|NM_015687,p.K553T|uc003pia.3,p.K553T|ENST00000370020,p.K454T|NM_001289987,p.K556T|NM_001300866,p.K553T|uc003phz.3,p.K454T|ENST00000393004,p.K553T|ENST00000237172,p.K553T|uc003pib.1,p.K305T|uc010kbe.3,p.K556T	protein_coding, processed_transcript	uc010kbe.3	nonsynonymous SNV	exon6	c.A1667C	p.K556T	MDVTEKLIEESKKLLKLKSEMEEKV	MDVTEKLIEESKTLLKLKSEMEEKV	1.0	8.0	unscreened	-	2369_6:76023890-76023890 T>G_MDVTEKLIEESKTLLKLKSEMEEKV
20:23065967-23065967 C>T	0.0	2369	MELANOMA	-	-	-	-	CD93	ENST00000246006,p.R288Q|uc002wsv.3,p.R288Q|NM_012072,p.R288Q	protein_coding	uc002wsv.3	nonsynonymous SNV	exon1	c.G863A	p.R288Q	FEGGDGSFLCGCRPGFRLLDDLVTC	FEGGDGSFLCGCQPGFRLLDDLVTC	1.0	8.0	unscreened	-	2369_20:23065967-23065967 C>T_FEGGDGSFLCGCQPGFRLLDDLVTC
22:39884049-39884049 G>A	0.0	2369	MELANOMA	-	-	-	-	MGAT3	NM_002409,p.D233N|uc010gxy.3,p.D233N|ENST00000341184,p.D233N|uc003axv.4,p.D233N|NM_001098270,p.D233N	protein_coding	uc010gxy.3	nonsynonymous SNV	exon1	c.G697A	p.D233N	LDVRFHELGDVVDAFVVCESNFTAY	LDVRFHELGDVVNAFVVCESNFTAY	2.0	4.0	unscreened	-	2369_22:39884049-39884049 G>A_LDVRFHELGDVVNAFVVCESNFTAY
2:29293955-29293955 T>C	0.0	2369	MELANOMA	-	-	-	-	C2orf71	uc002rmt.2,p.N1058S|NM_001029883,p.N1058S|ENST00000331664,p.N1058S	protein_coding	uc002rmt.2	nonsynonymous SNV	exon1	c.A3173G	p.N1058S	RRTSPPHQPKLPNPPPESAPAQCKV	RRTSPPHQPKLPSPPPESAPAQCKV	1.0	9.0	unscreened	-	2369_2:29293955-29293955 T>C_RRTSPPHQPKLPSPPPESAPAQCKV
1:152082647-152082647 A>C	0.0	2369	MELANOMA	-	-	-	-	TCHH	uc009wne.1,p.W1016G|NM_007113,p.W1016G|uc001ezp.3,p.W1016G|ENST00000368804,p.W1016G	protein_coding	uc009wne.1	nonsynonymous SNV	exon3	c.T3046G	p.W1016G	LREEREKRRRQEWERQYRKKDELQQ	LREEREKRRRQEGERQYRKKDELQQ	1.0	1.0	unscreened	-	2369_1:152082647-152082647 A>C_LREEREKRRRQEGERQYRKKDELQQ
2:169985310-169985310 C>T	0.0	2369	MELANOMA	-	-	-	-	LRP2	uc002ues.3,p.A4611T|NM_004525,p.A4611T|ENST00000263816,p.A4611T	retained_intron, protein_coding, processed_transcript	uc002ues.3	nonsynonymous SNV	exon79	c.G13831A	p.A4611T	AQMENEQKESVAATPPPSPSLPAKP	AQMENEQKESVATTPPPSPSLPAKP	2.0	2.0	unscreened	-	2369_2:169985310-169985310 C>T_AQMENEQKESVATTPPPSPSLPAKP
1:222920400-222920400 G>A	0.0	2369	MELANOMA	-	-	-	-	FAM177B	ENST00000445590,p.R73Q|uc001hnt.3,p.R73Q|ENST00000434700,p.R73Q|NM_207468,p.R73Q|ENST00000456298,p.R73Q|ENST00000360827,p.R73Q	retained_intron, protein_coding, nonsense_mediated_decay	uc001hnt.3	nonsynonymous SNV	exon4	c.G218A	p.R73Q	LSWGPYLRFWAGRIASTSFSTCEFL	LSWGPYLRFWAGQIASTSFSTCEFL	2.0	5.0	unscreened	-	2369_1:222920400-222920400 G>A_LSWGPYLRFWAGQIASTSFSTCEFL
4:167833815-167833815 G>A	0.0	2369	MELANOMA	-	-	-	-	SPOCK3	uc011cjs.1,p.P96S|NM_001040159,p.P144S|uc003iri.1,p.P147S|ENST00000511531,p.P147S|ENST00000512648,p.P144S|ENST00000357545,p.P144S|NM_001204354,p.P55S|NM_001204356,p.P144S|ENST00000534949,p.P51S|ENST00000357154,p.P147S|ENST00000502330,p.P147S|uc011cju.1,p.P51S|ENST00000535728,p.P55S|NM_001204352,p.P96S|ENST00000421836,p.P96S|uc011cjr.1,p.P27S|uc011cjp.2,p.P144S|NM_016950,p.P147S|uc011cjt.1,p.P55S|ENST00000510741,p.P144S|ENST00000504953,p.P144S|uc003irj.1,p.P144S|uc021xuf.1,p.P147S|uc011cjq.1,p.P156S|ENST00000541354,p.P27S|ENST00000506886,p.P147S|ENST00000511269,p.P144S|ENST00000509854,p.P144S|NM_001204355,p.P51S|uc003irk.4,p.P144S|NM_001204358,p.P144S|NM_001204353,p.P27S	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xuf.1	nonsynonymous SNV	exon5	c.C439T	p.P147S	ILSTCKQCPVVYPSPVCGSDGHTYS	ILSTCKQCPVVYSSPVCGSDGHTYS	1.0	8.0	unscreened	-	2369_4:167833815-167833815 G>A_ILSTCKQCPVVYSSPVCGSDGHTYS
3:195509676-195509676 C>G	0.0	2369	MELANOMA	-	-	-	2	MUC4	ENST00000462323,p.Q2925H|ENST00000470451,p.Q2925H|ENST00000477756,p.Q2925H|ENST00000466475,p.Q2925H|ENST00000480843,p.Q2925H|ENST00000477086,p.Q2925H|NM_018406,p.Q2925H|ENST00000479406,p.Q2925H|ENST00000478156,p.Q2925H|ENST00000475231,p.Q2925H|ENST00000463781,p.Q2925H|uc021xjp.1,p.Q2925H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G8775C	p.Q2925H	LPVTDTSSASTGQATPLPVTSLSSV	LPVTDTSSASTGHATPLPVTSLSSV	1.0	2.0	unscreened	-	2369_3:195509676-195509676 C>G_LPVTDTSSASTGHATPLPVTSLSSV
2:179605151-179605151 C>T	0.0	2369	MELANOMA	-	-	-	-	TTN	ENST00000591111,p.G3953E|uc021vta.2,p.G4032E|uc021vsz.2,p.G4099E|NM_001256850,p.G3953E|NM_133437,p.G4099E|NM_001267550,p.G4270E|ENST00000342175,p.G4099E|NM_133432,p.G4032E|NM_003319,p.G3907E|ENST00000359218,p.G4032E|uc031rqd.1,p.G3953E|ENST00000589042,p.G4270E|ENST00000460472,p.G3907E|uc021vtb.2,p.G3907E|uc031rqc.1,p.G4270E	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon46	c.G11858A	p.G3953E	QSALILSQSLAEGHVESLQSPDVMI	QSALILSQSLAEEHVESLQSPDVMI	3.0	5.0	unscreened	-	2369_2:179605151-179605151 C>T_QSALILSQSLAEEHVESLQSPDVMI
5:23527649-23527649 C>A	0.0	2369	MELANOMA	-	-	-	-	PRDM9	NM_020227,p.H818N|ENST00000296682,p.H818N|uc003jgo.3,p.H818N	protein_coding	uc003jgo.3	nonsynonymous SNV	exon11	c.C2452A	p.H818N	CRECGRGFSNKSHLLRHQRTHTGEK	CRECGRGFSNKSNLLRHQRTHTGEK	1.0	1.0	unscreened	-	2369_5:23527649-23527649 C>A_CRECGRGFSNKSNLLRHQRTHTGEK
15:40660811-40660811 C>T	0.0	2369	MELANOMA	-	-	-	-	DISP2	ENST00000267889,p.P833L|uc001zlk.1,p.P833L|NM_033510,p.P833L	retained_intron, protein_coding	uc001zlk.1	nonsynonymous SNV	exon8	c.C2498T	p.P833L	NQSFFDTLQEGWPTLCFVETLQRWM	NQSFFDTLQEGWLTLCFVETLQRWM	2.0	4.0	unscreened	-	2369_15:40660811-40660811 C>T_NQSFFDTLQEGWLTLCFVETLQRWM
19:22271892-22271892 T>A	0.0	2369	MELANOMA	-	-	-	-	ZNF257	NM_033468,p.I447N|uc010ecy.3,p.I415N|ENST00000594947,p.I447N|uc010ecx.3,p.I447N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ecy.3	nonsynonymous SNV	exon5	c.T1244A	p.I415N	ECGKAFNRSSYLIRHKIIHTGEKPY	ECGKAFNRSSYLNRHKIIHTGEKPY	3.0	1.0	unscreened	-	2369_19:22271892-22271892 T>A_ECGKAFNRSSYLNRHKIIHTGEKPY
15:33916036-33916036 G>A	0.0	2369	MELANOMA	-	-	-	-	RYR3	ENST00000415757,p.G796R|NM_001243996,p.G796R|ENST00000389232,p.G796R|NM_001036,p.G796R|uc001zhi.3,p.G796R|uc010bar.3,p.G796R	retained_intron, protein_coding, processed_transcript	uc010bar.3	nonsynonymous SNV	exon20	c.G2386A	p.G796R	GVKVRFLMGGRHGEFKFLPPSGYAP	GVKVRFLMGGRHREFKFLPPSGYAP	4.0	8.0	unscreened	-	2369_15:33916036-33916036 G>A_GVKVRFLMGGRHREFKFLPPSGYAP
16:71663285-71663285 G>A	0.0	2369	MELANOMA	-	-	-	-	MARVELD3	ENST00000565261,p.R107K|uc010cge.4,p.R107K|NM_001271329,p.R107K	protein_coding, processed_transcript	uc010cge.4	nonsynonymous SNV	exon2	c.G320A	p.R107K	RDAGPRAVNPLRRDICPRPPGLDER	RDAGPRAVNPLRKDICPRPPGLDER	3.0	3.0	unscreened	-	2369_16:71663285-71663285 G>A_RDAGPRAVNPLRKDICPRPPGLDER
2:179597266-179597266 C>T	0.0	2369	MELANOMA	-	-	ID=COSM1482476;OCCURENCE=1(breast)	-	TTN	uc031rqc.1,p.E5508K|uc031rqd.1,p.E5191K|uc021vsy.2,p.E4264K|NM_001256850,p.E5191K|NM_133378,p.E4264K|uc002umz.1,p.E925K|NM_001267550,p.E5508K|ENST00000589042,p.E5508K|ENST00000342992,p.E4264K|ENST00000591111,p.E5191K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon54	c.G15571A	p.E5191K	CYITKEALESSLELYLVKTSDSGTY	CYITKEALESSLKLYLVKTSDSGTY	3.0	7.0	unscreened	-	2369_2:179597266-179597266 C>T_CYITKEALESSLKLYLVKTSDSGTY
2:95843253-95843253 C>T	0.0	2369	MELANOMA	-	-	-	-	ZNF2	uc002suf.3,p.A20V|NM_021088,p.A20V|NM_001291605,p.A20V|ENST00000453539,p.A20V|ENST00000340539,p.A20V|NM_001282398,p.A20V|uc010yue.2,p.A20V|ENST00000295210,p.A20V	protein_coding	uc010yue.2	nonsynonymous SNV	exon3	c.C59T	p.A20V	TRCQESVTFEDVAVVFTDEEWSRLV	TRCQESVTFEDVVVVFTDEEWSRLV	5.0	4.0	-	-	2369_2:95843253-95843253 C>T_TRCQESVTFEDVVVVFTDEEWSRLV
6:87725663-87725663 G>A	0.0	2369	MELANOMA	-	-	ID=COSM197761;OCCURENCE=1(breast),1(skin),1(large_intestine)	-	HTR1E	ENST00000369584,p.R204Q|uc003pli.3,p.R204Q|NM_000865,p.R204Q|ENST00000305344,p.R204Q|uc021zcg.1,p.R204Q	protein_coding	uc021zcg.1	nonsynonymous SNV	exon1	c.G611A	p.R204Q	YIPLTLILILYYRIYHAAKSLYQKR	YIPLTLILILYYQIYHAAKSLYQKR	1.0	3.0	unscreened	-	2369_6:87725663-87725663 G>A_YIPLTLILILYYQIYHAAKSLYQKR
1:152284478-152284478 A>G	1.0	2369	MELANOMA	-	-	-	-	FLG	uc001ezu.1,p.W962R|NM_002016,p.W962R|ENST00000368799,p.W962R	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.T2884C	p.W962R	SDSEGHSEDSERWSGSASRNHRGSA	SDSEGHSEDSERRSGSASRNHRGSA	5.0	1.0	unscreened	-	2369_1:152284478-152284478 A>G_SDSEGHSEDSERRSGSASRNHRGSA
7:37934139-37934139 G>A	0.0	2369	MELANOMA	-	-	-	-	NME8	ENST00000440017,p.E491K|uc003tfn.3,p.E491K|ENST00000199447,p.E491K|NM_016616,p.E491K	retained_intron, protein_coding, nonsense_mediated_decay	uc003tfn.3	nonsynonymous SNV	exon16	c.G1471A	p.E491K	DLTQVKKMFLTPEQIEKIYPKVTGK	DLTQVKKMFLTPKQIEKIYPKVTGK	5.0	8.0	unscreened	-	2369_7:37934139-37934139 G>A_DLTQVKKMFLTPKQIEKIYPKVTGK
11:58125899-58125899 G>A	0.0	2369	MELANOMA	-	-	ID=COSM230229;OCCURENCE=3(NS),1(skin)	-	OR5B17	NM_001005489,p.S215F|ENST00000357377,p.S215F|uc010rke.2,p.S215F	protein_coding	uc010rke.2	nonsynonymous SNV	exon1	c.C644T	p.S215F	FNVFFALLVTLISYLFILITILKRH	FNVFFALLVTLIFYLFILITILKRH	1.0	8.0	unscreened	-	2369_11:58125899-58125899 G>A_FNVFFALLVTLIFYLFILITILKRH
8:110980790-110980790 C>T	0.0	2369	MELANOMA	-	-	ID=COSM1239204;OCCURENCE=1(oesophagus)	-	KCNV1	ENST00000524391,p.E344K|uc010mcw.3,p.E344K|NM_014379,p.E344K|uc003ynr.4,p.E344K|ENST00000297404,p.E344K	protein_coding	uc010mcw.3	nonsynonymous SNV	exon4	c.G1030A	p.E344K	LRSLGMTITQCYEEVGLLLLFLSVG	LRSLGMTITQCYKEVGLLLLFLSVG	1.0	6.0	unscreened	-	2369_8:110980790-110980790 C>T_LRSLGMTITQCYKEVGLLLLFLSVG
2:132020985-132020985 G>A	0.0	2369	MELANOMA	-	-	-	-	POTEE	NM_001083538,p.E653K|uc002tsk.2,p.E253K|uc002tsn.2,p.E653K|ENST00000356920,p.E653K|uc010fmy.1,p.E117K|uc002tsl.2,p.E235K	protein_coding	uc010fmy.1	nonsynonymous SNV	exon4	c.G349A	p.E117K	EKDVLHENSTLREEIAMLRLELDTM	EKDVLHENSTLRKEIAMLRLELDTM	5.0	4.0	unscreened	-	2369_2:132020985-132020985 G>A_EKDVLHENSTLRKEIAMLRLELDTM
6:167786750-167786750 C>A	0.0	2369	MELANOMA	-	rs143094588	-	-	TCP10	NM_004610,p.K296N|ENST00000397829,p.K296N|uc003qvv.1,p.K296N	retained_intron, protein_coding	uc003qvv.1	nonsynonymous SNV	exon8	c.G888T	p.K296N	KKEEVQEEKRHPKGKADDCRRSGFP	KKEEVQEEKRHPNGKADDCRRSGFP	1.0	1.0	unscreened	-	2369_6:167786750-167786750 C>A_KKEEVQEEKRHPNGKADDCRRSGFP
22:18835298-18835298 T>C	0.0	2369	MELANOMA	-	-	-	-	GGT3P,DGCR6	uc002zoc.3,p.V285A|ENST00000342005,p.V285A	protein_coding	uc002zoc.3	nonsynonymous SNV	exon1	c.T854C	p.V285A	GLPAISKAPSMDVQQETHKSQDCLG	GLPAISKAPSMDAQQETHKSQDCLG	1.0	1.0	unscreened	-	2369_22:18835298-18835298 T>C_GLPAISKAPSMDAQQETHKSQDCLG
18:60036159-60036159 G>A	1.0	2369	MELANOMA	-	-	-	-	TNFRSF11A	NM_001278268,p.E323K|NM_003839,p.E337K|uc002lin.4,p.E337K|uc031rim.1,p.E323K|ENST00000586569,p.E337K	retained_intron, protein_coding	uc031rim.1	nonsynonymous SNV	exon9	c.G967A	p.E323K	RMLSLVSKTEIEEDSFRQMPTEDEY	RMLSLVSKTEIEKDSFRQMPTEDEY	4.0	7.0	unscreened	-	2369_18:60036159-60036159 G>A_RMLSLVSKTEIEKDSFRQMPTEDEY
12:12243761-12243761 C>T	0.0	2369	MELANOMA	-	-	-	-	BCL2L14	uc001rad.3,p.S219L|NM_138723,p.S219L|ENST00000308721,p.S219L|ENST00000396367,p.S219L|uc001rac.3,p.S219L|ENST00000589718,p.S219L|ENST00000586576,p.S252L|NM_138722,p.S219L	protein_coding, processed_transcript, nonsense_mediated_decay	uc001rad.3	nonsynonymous SNV	exon4	c.C656T	p.S219L	QILAKIVELLKYSGDQLERKLKKDK	QILAKIVELLKYLGDQLERKLKKDK	1.0	9.0	unscreened	-	2369_12:12243761-12243761 C>T_QILAKIVELLKYLGDQLERKLKKDK
4:72622484-72622484 C>T	0.0	2369	MELANOMA	-	-	-	-	GC	uc003hge.3,p.E327K|ENST00000509740,p.E327K|ENST00000273951,p.E327K|NM_000583,p.E327K|NM_001204307,p.E346K|uc010iif.3,p.E346K|NM_001204306,p.E327K|ENST00000504199,p.E346K|uc021xpb.1,p.E327K|ENST00000513476,p.E327K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xpb.1	nonsynonymous SNV	exon9	c.G979A	p.E327K	MPAAQLPELPDVELPTNKDVCDPGN	MPAAQLPELPDVKLPTNKDVCDPGN	1.0	8.0	unscreened	-	2369_4:72622484-72622484 C>T_MPAAQLPELPDVKLPTNKDVCDPGN
19:7810512-7810512 C>G	0.0	2369	MELANOMA	-	-	-	2	CD209	ENST00000315591,p.E190Q|NM_021155,p.E214Q|uc002mhq.2,p.E214Q|uc010dvp.2,p.E190Q|uc002mhv.2,p.E190Q|ENST00000315599,p.E214Q|uc010dvq.2,p.E214Q|ENST00000601256,p.E190Q|NM_001144896,p.E190Q|ENST00000204801,p.E170Q|uc002mht.2,p.E214Q|NM_001144894,p.E170Q|ENST00000601951,p.E190Q|NM_001144897,p.E214Q|uc002mhr.2,p.E190Q|ENST00000354397,p.E214Q|uc002mhx.2,p.E170Q	protein_coding	uc010dvq.2	nonsynonymous SNV	exon4	c.G640C	p.E214Q	AVGELPEKSKQQEIYQELTRLKAAV	AVGELPEKSKQQQIYQELTRLKAAV	1.0	9.0	unscreened	-	2369_19:7810512-7810512 C>G_AVGELPEKSKQQQIYQELTRLKAAV
6:38891880-38891880 G>A	0.0	2369	MELANOMA	-	-	-	-	DNAH8	ENST00000449981,p.R3635Q|ENST00000359357,p.R3418Q|NM_001206927,p.R3635Q|uc003ooe.2,p.R3418Q|uc021yzh.1,p.R3635Q|ENST00000327475,p.R3623Q|ENST00000441566,p.R3382Q	protein_coding	uc021yzh.1	nonsynonymous SNV	exon73	c.G10904A	p.R3635Q	LLKDQWEMELRARKIPFTENLNLIS	LLKDQWEMELRAQKIPFTENLNLIS	4.0	9.0	unscreened	-	2369_6:38891880-38891880 G>A_LLKDQWEMELRAQKIPFTENLNLIS
7:129856197-129856197 G>A	0.0	2369	MELANOMA	-	-	-	-	SSMEM1	NM_145268,p.E208K|ENST00000297819,p.E208K|uc003vpp.3,p.E208K	protein_coding	uc003vpp.3	nonsynonymous SNV	exon3	c.G622A	p.E208K	RHCLHCKALRTNEWLAHHSRQKPSV	RHCLHCKALRTNKWLAHHSRQKPSV	1.0	9.0	unscreened	-	2369_7:129856197-129856197 G>A_RHCLHCKALRTNKWLAHHSRQKPSV
6:167592524-167592524 T>C	0.0	2369	MELANOMA	-	rs2989545	-	-	TCP10L2	ENST00000366832,p.L228P|uc010kkp.3,p.L228P|NM_001145121,p.L228P|ENST00000283507,p.L228P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kkp.3	nonsynonymous SNV	exon6	c.T683C	p.L228P	EDGKIMHPSSRSLQNSGGRKSPVQA	EDGKIMHPSSRSPQNSGGRKSPVQA	1.0	3.0	unscreened	-	2369_6:167592524-167592524 T>C_EDGKIMHPSSRSPQNSGGRKSPVQA
2:179664430-179664430 G>A	0.0	2369	MELANOMA	-	-	-	-	TTN	ENST00000591111,p.S233L|NM_003319,p.S233L|uc021vsz.2,p.S233L|ENST00000342175,p.S233L|uc021vtb.2,p.S233L|NM_133437,p.S233L|ENST00000342992,p.S233L|uc031rqd.1,p.S233L|NM_133432,p.S233L|uc002und.3,p.S233L|ENST00000360870,p.S233L|ENST00000589042,p.S233L|uc021vsy.2,p.S233L|uc031rqc.1,p.S233L|NM_133378,p.S233L|NM_001267550,p.S233L|ENST00000460472,p.S233L|uc021vta.2,p.S233L|NM_001256850,p.S233L|ENST00000359218,p.S233L|NM_133379,p.S233L|uc002unb.3,p.S233L	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon6	c.C698T	p.S233L	IEKKIEAHFDARSIATVEMVIDGAA	IEKKIEAHFDARLIATVEMVIDGAA	3.0	3.0	unscreened	-	2369_2:179664430-179664430 G>A_IEKKIEAHFDARLIATVEMVIDGAA
20:6022608-6022608 C>T	0.0	2369	MELANOMA	-	-	-	-	LRRN4	NM_152611,p.G428E|ENST00000378858,p.G428E|uc002wmo.3,p.G428E	protein_coding	uc002wmo.3	nonsynonymous SNV	exon5	c.G1283A	p.G428E	TIAAWPHSDAREGTAPSTTNSVAGH	TIAAWPHSDAREETAPSTTNSVAGH	1.0	5.0	unscreened	-	2369_20:6022608-6022608 C>T_TIAAWPHSDAREETAPSTTNSVAGH
2:238726448-238726448 G>T	0.0	2369	MELANOMA	-	-	-	-	RBM44	ENST00000409864,p.G297C|ENST00000316997,p.G297C|NM_001080504,p.G297C|uc002vxi.4,p.G297C	retained_intron, protein_coding, processed_transcript	uc002vxi.4	nonsynonymous SNV	exon3	c.G889T	p.G297C	QETNSMYHTVFDGSVLRSNSPGNQE	QETNSMYHTVFDCSVLRSNSPGNQE	1.0	5.0	unscreened	-	2369_2:238726448-238726448 G>T_QETNSMYHTVFDCSVLRSNSPGNQE
6:46787315-46787315 G>A	0.0	2369	MELANOMA	-	-	-	-	MEP1A	uc010jzh.1,p.G144S|uc011dwh.1,p.G172S|uc011dwi.1,p.G44S|ENST00000230588,p.G144S|NM_005588,p.G144S	protein_coding	uc011dwi.1	nonsynonymous SNV	exon5	c.G130A	p.G44S	VGDQHVGQNISIGQGCAYKAIIEHE	VGDQHVGQNISISQGCAYKAIIEHE	1.0	4.0	unscreened	-	2369_6:46787315-46787315 G>A_VGDQHVGQNISISQGCAYKAIIEHE
1:152284505-152284505 C>G	0.0	2369	MELANOMA	-	-	-	-	FLG	uc001ezu.1,p.E953Q|NM_002016,p.E953Q|ENST00000368799,p.E953Q	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.G2857C	p.E953Q	RQGSSVSQDSDSEGHSEDSERWSGS	RQGSSVSQDSDSQGHSEDSERWSGS	5.0	1.0	unscreened	-	2369_1:152284505-152284505 C>G_RQGSSVSQDSDSQGHSEDSERWSGS
18:28576834-28576834 C>T	0.0	2369	MELANOMA	-	-	-	-	DSC3	ENST00000434452,p.G806R|NM_001941,p.G806R|uc002kwi.4,p.G806R|uc002kwj.4,p.G806R|NM_024423,p.G806R|ENST00000360428,p.G806R	protein_coding	uc002kwj.4	nonsynonymous SNV	exon15	c.G2416A	p.G806R	GAGHHHTLDSCRGGHTEVDNCRYTY	GAGHHHTLDSCRRGHTEVDNCRYTY	1.0	7.0	unscreened	-	2369_18:28576834-28576834 C>T_GAGHHHTLDSCRRGHTEVDNCRYTY
2:1926231-1926231 G>A	0.0	2369	MELANOMA	-	-	ID=COSM1014200;OCCURENCE=1(endometrium)	-	MYT1L	ENST00000602387,p.A91V|ENST00000399161,p.A437V|NM_015025,p.A437V|uc002qxd.3,p.A437V|ENST00000428368,p.A437V|uc002qxe.3,p.A437V	retained_intron, protein_coding, processed_transcript	uc002qxe.3	nonsynonymous SNV	exon10	c.C1310T	p.A437V	DMTKGNLTLLEKAIALETERAKAMR	DMTKGNLTLLEKVIALETERAKAMR	1.0	5.0	unscreened	-	2369_2:1926231-1926231 G>A_DMTKGNLTLLEKVIALETERAKAMR
12:12243761-12243761 C>T	0.0	2369	MELANOMA	-	-	-	-	BCL2L14	uc001rae.3,p.S219L|ENST00000266434,p.S219L|NM_030766,p.S219L	protein_coding, processed_transcript, nonsense_mediated_decay	uc001rae.3	nonsynonymous SNV	exon4	c.C656T	p.S219L	QILAKIVELLKYSGDQLERKDTAFI	QILAKIVELLKYLGDQLERKDTAFI	1.0	9.0	unscreened	-	2369_12:12243761-12243761 C>T_QILAKIVELLKYLGDQLERKDTAFI
12:12243761-12243761 C>T	0.0	2369	MELANOMA	-	-	-	-	BCL2L14	ENST00000396369,p.S219L|ENST00000298566,p.S219L	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000396369	nonsynonymous SNV	exon4	c.C656T	p.S219L	QILAKIVELLKYSGDQLERKEKEWE	QILAKIVELLKYLGDQLERKEKEWE	1.0	9.0	unscreened	-	2369_12:12243761-12243761 C>T_QILAKIVELLKYLGDQLERKEKEWE
12:18234337-18234337 C>T	0.0	2369	MELANOMA	-	-	ID=COSM1705235,COSM1705234;OCCURENCE=1(skin)	-	RERGL	uc001rdq.3,p.E136K|NM_024730,p.E136K|ENST00000538724,p.E135K|NM_001286201,p.E135K|ENST00000229002,p.E136K	protein_coding, processed_transcript	uc001rdq.3	nonsynonymous SNV	exon6	c.G406A	p.E136K	KRDLCHVREVGWEEGQKLALENRCQ	KRDLCHVREVGWKEGQKLALENRCQ	1.0	10.0	unscreened	-	2369_12:18234337-18234337 C>T_KRDLCHVREVGWKEGQKLALENRCQ
15:54306457-54306457 G>A	0.0	2369	MELANOMA	-	-	-	-	UNC13C	ENST00000545554,p.D453N|ENST00000537900,p.D453N|NM_001080534,p.D453N|uc021smr.1,p.D453N|uc021sms.1,p.D453N|ENST00000260323,p.D453N	retained_intron, protein_coding	uc021sms.1	nonsynonymous SNV	exon1	c.G1357A	p.D453N	IKKNNWQSPDDSDEDLESDLNRNSY	IKKNNWQSPDDSNEDLESDLNRNSY	2.0	9.0	unscreened	-	2369_15:54306457-54306457 G>A_IKKNNWQSPDDSNEDLESDLNRNSY
18:67345041-67345041 C>T	0.0	2369	MELANOMA	-	-	-	-	DOK6	NM_152721,p.L121F|ENST00000382713,p.L121F|uc002lkl.3,p.L121F	protein_coding, processed_transcript	uc002lkl.3	nonsynonymous SNV	exon4	c.C361T	p.L121F	MECLGTRLNDISLGEPDLLAAGVQR	MECLGTRLNDISFGEPDLLAAGVQR	1.0	9.0	unscreened	-	2369_18:67345041-67345041 C>T_MECLGTRLNDISFGEPDLLAAGVQR
1:209963047-209963047 C>T	0.0	2369	MELANOMA	-	-	-	-	IRF6	ENST00000367021,p.G382R|uc010psm.2,p.G287R|NM_001206696,p.G287R|uc001hhq.2,p.G382R|ENST00000542854,p.G287R|NM_006147,p.G382R	retained_intron, protein_coding	uc010psm.2	nonsynonymous SNV	exon6	c.G859A	p.G287R	EIYLCFGEEWPDGKPLERKLILVQV	EIYLCFGEEWPDRKPLERKLILVQV	1.0	6.0	unscreened	-	2369_1:209963047-209963047 C>T_EIYLCFGEEWPDRKPLERKLILVQV
19:40276344-40276344 T>C	0.0	2369	MELANOMA	-	-	-	-	LEUTX	uc010xvg.2,p.F26L|ENST00000396841,p.F26L|NM_001143832,p.F26L	protein_coding	uc010xvg.2	nonsynonymous SNV	exon3	c.T76C	p.F26L	KLQLDLSVVKIWFKNQRAKWKRQQR	KLQLDLSVVKIWLKNQRAKWKRQQR	1.0	9.0	unscreened	-	2369_19:40276344-40276344 T>C_KLQLDLSVVKIWLKNQRAKWKRQQR
3:195506507-195506507 C>G	0.0	2369	MELANOMA	-	-	-	2	MUC4	ENST00000478156,p.A3982P|ENST00000466475,p.A3982P|ENST00000480843,p.A3982P|ENST00000462323,p.A3982P|ENST00000463781,p.A3982P|uc021xjp.1,p.A3982P|NM_018406,p.A3982P|ENST00000470451,p.A3982P|ENST00000475231,p.A3982P|ENST00000477756,p.A3982P|ENST00000479406,p.A3982P|ENST00000477086,p.A3982P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G11944C	p.A3982P	PVTSRSSASTGHATPLPVTDTSSVS	PVTSRSSASTGHPTPLPVTDTSSVS	1.0	2.0	unscreened	-	2369_3:195506507-195506507 C>G_PVTSRSSASTGHPTPLPVTDTSSVS
12:21069126-21069126 G>A	0.0	2369	MELANOMA	-	-	-	-	SLCO1B3	uc001rel.4,p.G685E|ENST00000261196,p.G685E|NM_019844,p.G685E|ENST00000381545,p.G685E	protein_coding, nonsense_mediated_decay	uc001rel.4	nonsynonymous SNV	exon16	c.G2054A	p.G685E	FLNNGEHFVPSAGTDSKTCNLDMQD	FLNNGEHFVPSAETDSKTCNLDMQD	1.0	9.0	unscreened	-	2369_12:21069126-21069126 G>A_FLNNGEHFVPSAETDSKTCNLDMQD
19:56283396-56283396 G>A	0.0	2369	MELANOMA	-	-	-	-	RFPL4AL1	uc031rnc.1,p.E76K|ENST00000341750,p.E76K|NM_001277397,p.E76K	protein_coding	uc031rnc.1	nonsynonymous SNV	exon1	c.G226A	p.E76K	KYKLRALVSIIKELEPKLKSVLTMN	KYKLRALVSIIKKLEPKLKSVLTMN	1.0	2.0	unscreened	-	2369_19:56283396-56283396 G>A_KYKLRALVSIIKKLEPKLKSVLTMN
6:55739516-55739516 C>T	0.0	2369	MELANOMA	-	-	-	2	BMP5	ENST00000370830,p.E50K|ENST00000446683,p.E50K|uc003pcq.3,p.E50K|NM_021073,p.E50K|uc011dxf.2,p.E50K	protein_coding	uc011dxf.2	nonsynonymous SNV	exon1	c.G148A	p.E50K	FIYRRLRNHERREIQREILSILGLP	FIYRRLRNHERRKIQREILSILGLP	1.0	3.0	unscreened	-	2369_6:55739516-55739516 C>T_FIYRRLRNHERRKIQREILSILGLP
16:7703892-7703892 C>T	0.0	2369	MELANOMA	-	-	-	-	RBFOX1	uc010buf.1,p.T278I|uc002cyw.2,p.T298I|NM_145893,p.T298I|ENST00000355637,p.T298I|uc002cyx.2,p.T298I|uc002cyy.2,p.T298I|ENST00000340209,p.T283I|NM_001142334,p.T278I|ENST00000552089,p.T295I|NM_145891,p.T298I|uc002cyt.2,p.T251I|ENST00000547372,p.T321I|ENST00000436368,p.T298I|uc002cyv.1,p.T278I|ENST00000535565,p.T235I|ENST00000422070,p.T321I|uc002cyr.1,p.T277I|ENST00000547338,p.T278I|ENST00000311745,p.T298I|uc010uyb.1,p.T278I|NM_018723,p.T278I|NM_001142333,p.T251I|ENST00000550418,p.T278I|uc010uxz.1,p.T321I|ENST00000553186,p.T251I|uc010uyc.1,p.T271I|uc002cys.2,p.T278I|uc010uya.1,p.T235I|NM_145892,p.T298I	retained_intron, protein_coding, processed_transcript	uc010uyc.1	nonsynonymous SNV	exon8	c.C812T	p.T271I	AYRGAHLRGRGRTVYNTFRAAAPPP	AYRGAHLRGRGRIVYNTFRAAAPPP	1.0	3.0	unscreened	-	2369_16:7703892-7703892 C>T_AYRGAHLRGRGRIVYNTFRAAAPPP
10:37442519-37442519 C>T	0.0	2369	MELANOMA	-	-	-	-	ANKRD30A	uc001iza.1,p.S520L|uc021ppc.1,p.S520L|ENST00000374660,p.S520L|ENST00000602533,p.S520L|NM_052997,p.S520L|ENST00000361713,p.S520L	protein_coding, processed_transcript	uc021ppc.1	nonsynonymous SNV	exon13	c.C1559T	p.S520L	NSWDSESLCETVSQKDVCLPKATHQ	NSWDSESLCETVLQKDVCLPKATHQ	1.0	9.0	unscreened	-	2369_10:37442519-37442519 C>T_NSWDSESLCETVLQKDVCLPKATHQ
9:38577192-38577192 C>T	0.0	2369	MELANOMA	-	-	-	-	ANKRD18A	ENST00000399703,p.E867K|ENST00000602295,p.E257K|uc004abf.1,p.E544K|NM_147195,p.E867K|uc004abg.4,p.E867K	protein_coding, processed_transcript, nonsense_mediated_decay	uc004abg.4	nonsynonymous SNV	exon14	c.G2599A	p.E867K	LNKDNTASLKKKELTLKDVECKFSK	LNKDNTASLKKKKLTLKDVECKFSK	4.0	8.0	unscreened	-	2369_9:38577192-38577192 C>T_LNKDNTASLKKKKLTLKDVECKFSK
15:54307918-54307918 G>A	0.0	2369	MELANOMA	-	-	-	-	UNC13C	uc021smr.1,p.E940K|ENST00000260323,p.E940K|NM_001080534,p.E940K|ENST00000545554,p.E940K|uc021sms.1,p.E940K|ENST00000537900,p.E940K	retained_intron, protein_coding	uc021sms.1	nonsynonymous SNV	exon1	c.G2818A	p.E940K	DMVSEEGLEPLNETSAEMEIREDEN	DMVSEEGLEPLNKTSAEMEIREDEN	2.0	7.0	unscreened	-	2369_15:54307918-54307918 G>A_DMVSEEGLEPLNKTSAEMEIREDEN
6:25727414-25727414 C>T	0.0	2369	MELANOMA	-	-	-	-	HIST1H2BA	uc003nfd.3,p.S93F|NM_170610,p.S93F|ENST00000274764,p.S93F	protein_coding	uc003nfd.3	nonsynonymous SNV	exon1	c.C278T	p.S93F	RLAHYSKRSTISSREIQTAVRLLLP	RLAHYSKRSTISFREIQTAVRLLLP	1.0	4.0	unscreened	-	2369_6:25727414-25727414 C>T_RLAHYSKRSTISFREIQTAVRLLLP
7:141752145-141752145 G>A	0.0	2369	MELANOMA	-	-	-	-	MGAM	ENST00000475668,p.E953K|NM_004668,p.E953K|ENST00000549489,p.E953K|uc003vwy.3,p.E953K	retained_intron, protein_coding, processed_transcript	uc003vwy.3	nonsynonymous SNV	exon25	c.G2857A	p.E953K	DIDLLLGEAYTVEWSIKIRDEEKID	DIDLLLGEAYTVKWSIKIRDEEKID	2.0	8.0	unscreened	-	2369_7:141752145-141752145 G>A_DIDLLLGEAYTVKWSIKIRDEEKID
3:113376111-113376113 TGC>-	0.0	2369	MELANOMA	-	-	ID=COSM1484461;OCCURENCE=1(breast)	-	KIAA2018	uc003eal.3,p.1416_1417del|ENST00000316407,p.1472_1473del|ENST00000478658,p.1472_1473del|NM_001009899,p.1472_1473del|uc003eam.3,p.1472_1473del	retained_intron, protein_coding	uc003eam.3	nonframeshift deletion	exon7	c.4416_4418del	p.1472_1473del	IKQQQQQQQQQQQQQQQQQAGQLRE	IKQQQQQQQQQQQQQQQQAGQLRER	5.0	2.0	unscreened	-	2369_3:113376111-113376113 TGC>-_IKQQQQQQQQQQQQQQQQAGQLRER
12:8994038-8994038 G>A	0.0	2369	MELANOMA	-	-	-	-	A2ML1	uc001quz.5,p.G385E|ENST00000299698,p.G385E|NM_144670,p.G385E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001quz.5	nonsynonymous SNV	exon11	c.G1154A	p.G385E	NHLVFLVIYGTNGTFNQTLVTDNNG	NHLVFLVIYGTNETFNQTLVTDNNG	1.0	5.0	unscreened	-	2369_12:8994038-8994038 G>A_NHLVFLVIYGTNETFNQTLVTDNNG
2:167060918-167060918 C>T	0.0	2369	MELANOMA	-	-	-	-	SCN9A	uc010fpl.3,p.M1474I|NM_002977,p.M1474I|ENST00000303354,p.M1486I|ENST00000409435,p.M1485I|ENST00000375387,p.M1486I|ENST00000409672,p.M1474I	retained_intron, protein_coding	uc010fpl.3	nonsynonymous SNV	exon25	c.G4422A	p.M1474I	FMTEEQKKYYNAMKKLGSKKPQKPI	FMTEEQKKYYNAIKKLGSKKPQKPI	1.0	5.0	unscreened	-	2369_2:167060918-167060918 C>T_FMTEEQKKYYNAIKKLGSKKPQKPI
13:38156635-38156635 C>T	0.0	2369	MELANOMA	-	-	-	-	POSTN	uc001uwo.4,p.M420I|ENST00000541481,p.M420I|uc010tex.1,p.M335I|ENST00000379749,p.M420I|NM_001286666,p.M420I|uc010tew.1,p.M420I|ENST00000541179,p.M420I|uc010tev.1,p.M420I|uc010teu.1,p.M420I|uc001uwq.3,p.M420I|uc001uwr.3,p.M420I|ENST00000379747,p.M420I|NM_006475,p.M420I|NM_001286665,p.M420I|uc001uwp.4,p.M420I|NM_001135934,p.M420I|ENST00000379743,p.M420I|NM_001135935,p.M420I|NM_001286667,p.M420I|NM_001135936,p.M420I|ENST00000379742,p.M420I	protein_coding, processed_transcript	uc010tex.1	nonsynonymous SNV	exon10	c.G1005A	p.M335I	PVNNAFSDDTLSMDQRLLKLILQNH	PVNNAFSDDTLSIDQRLLKLILQNH	1.0	7.0	unscreened	-	2369_13:38156635-38156635 C>T_PVNNAFSDDTLSIDQRLLKLILQNH
8:42179953-42179953 G>T	1.0	2369	MELANOMA	-	-	-	1	IKBKB	NM_001190720,p.V641F|uc003xow.2,p.V643F|ENST00000520810,p.V643F|ENST00000379708,p.V420F|ENST00000416505,p.V584F|uc003xox.2,p.V364F|ENST00000520835,p.V641F|uc011lcq.2,p.V641F|uc011lcr.2,p.V584F|NM_001242778,p.V584F|NM_001556,p.V643F|uc010lxj.2,p.V420F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lcr.2	nonsynonymous SNV	exon18	c.G1750T	p.V584F	EVVSLMNEDEKTVVRLQEKRQKELW	EVVSLMNEDEKTFVRLQEKRQKELW	8.0	6.0	-	-	2369_8:42179953-42179953 G>T_EVVSLMNEDEKTFVRLQEKRQKELW
9:32632478-32632478 C>T	0.0	2369	MELANOMA	-	-	-	-	TAF1L	uc003zrg.1,p.E1034K|NM_153809,p.E1034K|ENST00000242310,p.E1034K	protein_coding	uc003zrg.1	nonsynonymous SNV	exon1	c.G3100A	p.E1034K	AKQLLRKFGVPEEEIKKLSRWEVID	AKQLLRKFGVPEKEIKKLSRWEVID	2.0	9.0	unscreened	-	2369_9:32632478-32632478 C>T_AKQLLRKFGVPEKEIKKLSRWEVID
11:99932099-99932099 C>T	0.0	2369	MELANOMA	-	-	ID=COSM1721721,COSM1721720;OCCURENCE=2(NS)	-	CNTN5	uc021qpb.1,p.S379F|NM_001243271,p.S379F|ENST00000418526,p.S305F|uc021qpc.1,p.S305F|uc009ywv.2,p.S379F|ENST00000279463,p.S379F|ENST00000528682,p.S379F|uc001pga.3,p.S379F|uc001pfz.3,p.S379F|ENST00000527185,p.S379F|ENST00000524871,p.S379F|NM_175566,p.S305F|NM_014361,p.S379F|NM_001243270,p.S379F	retained_intron, protein_coding, processed_transcript	uc021qpc.1	nonsynonymous SNV	exon7	c.C914T	p.S305F	YECRAENSRGKNSFRGQLQVYTYPH	YECRAENSRGKNFFRGQLQVYTYPH	1.0	4.0	unscreened	-	2369_11:99932099-99932099 C>T_YECRAENSRGKNFFRGQLQVYTYPH
4:144922436-144922436 T>G	0.0	2369	MELANOMA	-	rs201662569	-	-	GYPB	ENST00000506679,p.K41Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000506679	nonsynonymous SNV	exon3	c.A121C	p.K41Q	EGRARAKILKQEKL	EGRARAKILKQEQL	4.0	1.0	unscreened	-	2369_4:144922436-144922436 T>G_EGRARAKILKQEQL
9:69423641-69423641 T>G	0.0	2369	MELANOMA	-	rs56298600	-	-	ANKRD20A4	ENST00000357336,p.M646R|uc004afn.3,p.M646R|NM_001098805,p.M646R	retained_intron, protein_coding	uc004afn.3	nonsynonymous SNV	exon15	c.T1937G	p.M646R	LERTQDVSVQVEMSSAISKVKDENE	LERTQDVSVQVERSSAISKVKDENE	3.0	2.0	unscreened	-	2369_9:69423641-69423641 T>G_LERTQDVSVQVERSSAISKVKDENE
17:66972118-66972118 C>T	0.0	2369	MELANOMA	-	-	-	-	ABCA9	uc002jhu.3,p.D1605N|ENST00000340001,p.D1605N|ENST00000453985,p.D1567N|uc010dez.3,p.D1567N|NM_080283,p.D1605N	retained_intron, protein_coding, processed_transcript	uc010dez.3	nonsynonymous SNV	exon37	c.G4699A	p.D1567N	VFLELSKEQELGDLEEDFDPSVKWK	VFLELSKEQELGNLEEDFDPSVKWK	2.0	9.0	unscreened	-	2369_17:66972118-66972118 C>T_VFLELSKEQELGNLEEDFDPSVKWK
13:84454322-84454322 C>T	0.0	2369	MELANOMA	-	-	-	-	SLITRK1	uc001vlk.3,p.E441K|NM_052910,p.E441K|ENST00000377084,p.E441K|NM_001281503,p.E441K	protein_coding	uc001vlk.3	nonsynonymous SNV	exon1	c.G1321A	p.E441K	YMDSNYLDTLSREKFAGLQNLEYLN	YMDSNYLDTLSRKKFAGLQNLEYLN	1.0	6.0	unscreened	-	2369_13:84454322-84454322 C>T_YMDSNYLDTLSRKKFAGLQNLEYLN
2:179665247-179665247 G>A	0.0	2369	MELANOMA	-	-	ID=COSM1691595,COSM1691594,COSM1691597,COSM1691596,COSM1691593,COSM1691598;OCCURENCE=1(skin)	-	TTN	ENST00000460472,p.S153L|uc031rqd.1,p.S153L|uc021vtb.2,p.S153L|NM_001267550,p.S153L|ENST00000359218,p.S153L|ENST00000342992,p.S153L|uc021vta.2,p.S153L|uc021vsy.2,p.S153L|NM_133378,p.S153L|NM_133432,p.S153L|uc002und.3,p.S153L|ENST00000360870,p.S153L|uc021vsz.2,p.S153L|ENST00000342175,p.S153L|ENST00000589042,p.S153L|uc031rqc.1,p.S153L|NM_003319,p.S153L|NM_001256850,p.S153L|ENST00000591111,p.S153L|NM_133437,p.S153L|NM_133379,p.S153L|uc002unb.3,p.S153L	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon4	c.C458T	p.S153L	GAEIQSSLDFQISQEGDLYSLLIAE	GAEIQSSLDFQILQEGDLYSLLIAE	3.0	8.0	unscreened	-	2369_2:179665247-179665247 G>A_GAEIQSSLDFQILQEGDLYSLLIAE
2:186671372-186671372 G>A	0.0	2369	MELANOMA	-	-	-	-	FSIP2	ENST00000343098,p.G5869E|ENST00000424728,p.G5780E|uc002upl.3,p.G5869E|NM_173651,p.G5869E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon17	c.G17606A	p.G5869E	PDDPQNQRESKPGIFPAKFLEDVIT	PDDPQNQRESKPEIFPAKFLEDVIT	3.0	5.0	unscreened	-	2369_2:186671372-186671372 G>A_PDDPQNQRESKPEIFPAKFLEDVIT
1:158323824-158323824 G>A	0.0	2369	MELANOMA	-	-	ID=COSM1718360;OCCURENCE=2(NS)	-	CD1E	uc001fsk.3,p.E16K|NM_001042583,p.E16K|ENST00000368165,p.E16K|NM_001185107,p.E16K|ENST00000368163,p.E16K|ENST00000368155,p.E16K|uc001fry.3,p.E16K|ENST00000368161,p.E16K|uc001fsj.3,p.E16K|ENST00000368167,p.E16K|ENST00000368156,p.E16K|NM_001185108,p.E16K|uc001fse.3,p.E16K|uc001fsf.3,p.E16K|NM_001185115,p.E16K|NM_001042585,p.E16K|NM_001042584,p.E16K|NM_030893,p.E16K|ENST00000368160,p.E16K|uc001frz.3,p.E16K|uc001fsd.3,p.E16K	protein_coding, processed_transcript	uc001fsk.3	nonsynonymous SNV	exon1	c.G46A	p.E16K	LFLLFEGLCCPGENTAAPQALQSYH	LFLLFEGLCCPGKNTAAPQALQSYH	1.0	5.0	unscreened	-	2369_1:158323824-158323824 G>A_LFLLFEGLCCPGKNTAAPQALQSYH
17:39778642-39778642 C>T	0.0	2369	MELANOMA	-	-	-	-	KRT17	ENST00000311208,p.E213K|NM_000422,p.E213K|ENST00000540235,p.E372K|uc002hxh.2,p.E213K|ENST00000577817,p.E178K	retained_intron, protein_coding	uc002hxh.2	nonsynonymous SNV	exon3	c.G637A	p.E213K	RADLEMQIENLKEELAYLKKNHEEE	RADLEMQIENLKKELAYLKKNHEEE	3.0	8.0	unscreened	-	2369_17:39778642-39778642 C>T_RADLEMQIENLKKELAYLKKNHEEE
7:141765233-141765233 C>T	0.0	2369	MELANOMA	-	-	-	-	MGAM	uc003vwy.3,p.T1528M|ENST00000549489,p.T1528M|ENST00000475668,p.T1528M|NM_004668,p.T1528M	retained_intron, protein_coding, processed_transcript	uc003vwy.3	nonsynonymous SNV	exon38	c.C4583T	p.T1528M	SGRWAGHWLGDNTAAWDQLKKSIIG	SGRWAGHWLGDNMAAWDQLKKSIIG	2.0	8.0	unscreened	-	2369_7:141765233-141765233 C>T_SGRWAGHWLGDNMAAWDQLKKSIIG
12:8327883-8327883 C>T	0.0	2369	MELANOMA	-	rs71612295	-	-	ZNF705A	uc001qud.1,p.R67W|NM_001004328,p.R67W|ENST00000359286,p.R67W|ENST00000396570,p.R67W	protein_coding	uc001qud.1	nonsynonymous SNV	exon3	c.C199T	p.R67W	IILQLEQGKELWREGREFLQDQNPD	IILQLEQGKELWWEGREFLQDQNPD	1.0	2.0	unscreened	-	2369_12:8327883-8327883 C>T_IILQLEQGKELWWEGREFLQDQNPD
17:39778642-39778642 C>T	0.0	2369	MELANOMA	-	-	-	-	KRT17	ENST00000590038,p.E8K	retained_intron, protein_coding	ENST00000590038	nonsynonymous SNV	exon2	c.G22A	p.E8K	MQIENLKEELAYLKKNHEEM	MQIENLKKELAYLKKNHEEM	3.0	8.0	unscreened	-	2369_17:39778642-39778642 C>T_MQIENLKKELAYLKKNHEEM
12:14767870-14767870 C>T	0.0	2369	MELANOMA	-	-	-	-	GUCY2C	ENST00000261170,p.G993E|NM_004963,p.G993E|uc001rcd.3,p.G993E	retained_intron, protein_coding	uc001rcd.3	nonsynonymous SNV	exon26	c.G2978A	p.G993E	YEVRGETYLKGRGNETTYWLTGMKD	YEVRGETYLKGRENETTYWLTGMKD	1.0	3.0	unscreened	-	2369_12:14767870-14767870 C>T_YEVRGETYLKGRENETTYWLTGMKD
1:12939476-12939476 G>C	0.0	2369	MELANOMA	-	rs149134171	-	-	PRAMEF4	ENST00000235349,p.N442K|NM_001009611,p.N442K|uc001aun.2,p.N442K	protein_coding	uc001aun.2	nonsynonymous SNV	exon4	c.C1326G	p.N442K	WSRFAQIRAELMNRVRDLRHPKRIL	WSRFAQIRAELMKRVRDLRHPKRIL	1.0	4.0	unscreened	-	2369_1:12939476-12939476 G>C_WSRFAQIRAELMKRVRDLRHPKRIL
16:19455440-19455440 C>T	0.0	2369	MELANOMA	-	-	-	-	TMC5	uc010vaq.2,p.R276C|NM_001261841,p.R276C|uc010var.2,p.R276C|ENST00000542583,p.R276C|NM_001105248,p.R276C|ENST00000396229,p.R276C|ENST00000541464,p.R276C|uc002dgc.4,p.R276C|ENST00000381414,p.R276C|uc002dgb.4,p.R276C|NM_001105249,p.R276C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010var.2	nonsynonymous SNV	exon4	c.C826T	p.R276C	VLSRTSSIQPSFRHRSDDPVGSLWG	VLSRTSSIQPSFCHRSDDPVGSLWG	1.0	3.0	unscreened	-	2369_16:19455440-19455440 C>T_VLSRTSSIQPSFCHRSDDPVGSLWG
8:32453445-32453445 G>A	0.0	2369	MELANOMA	-	-	-	1	NRG1	uc003xis.3,p.R67K|ENST00000518104,p.R46K|NM_004495,p.R67K|ENST00000520407,p.R282K|NM_013958,p.R67K|NM_013962,p.R282K|ENST00000521670,p.R67K|uc003xip.3,p.R282K|ENST00000519301,p.R46K|uc003xiv.2,p.R67K|uc010lvo.2,p.R67K|uc010lvm.3,p.R67K|NM_013964,p.R67K|NM_001160005,p.R67K|ENST00000287840,p.R67K|ENST00000338921,p.R67K|ENST00000287842,p.R67K|NM_001160007,p.R67K|uc010lvn.3,p.R67K|ENST00000287845,p.R67K|ENST00000523079,p.R67K|NM_001160008,p.R67K|NM_001160002,p.R67K|ENST00000341377,p.R67K|ENST00000356819,p.R67K|NM_013960,p.R67K|uc010lvl.3,p.R67K|uc011lbf.1,p.R67K|uc022ats.1,p.R46K|NM_013957,p.R67K|uc003xiw.2,p.R67K|uc003xiu.2,p.R67K|uc003xit.2,p.R67K|NM_001160004,p.R67K|uc003xir.3,p.R67K|ENST00000523534,p.R135K|NM_013956,p.R67K|ENST00000405005,p.R67K	retained_intron, protein_coding, processed_transcript	uc022ats.1	nonsynonymous SNV	exon2	c.G137A	p.R46K	LRCETSSEYSSLRFKWFKNGNELNR	LRCETSSEYSSLKFKWFKNGNELNR	1.0	5.0	unscreened	-	2369_8:32453445-32453445 G>A_LRCETSSEYSSLKFKWFKNGNELNR
X:3228739-3228739 G>A	0.0	2369	MELANOMA	-	-	-	-	MXRA5	uc004crg.4,p.S2502F|NM_015419,p.S2502F|ENST00000217939,p.S2502F	protein_coding	uc004crg.4	nonsynonymous SNV	exon7	c.C7505T	p.S2502F	YYGNRITVHGNGSLDIRSLRKSDSV	YYGNRITVHGNGFLDIRSLRKSDSV	1.0	4.0	unscreened	-	2369_X:3228739-3228739 G>A_YYGNRITVHGNGFLDIRSLRKSDSV
18:6311570-6311570 C>T	1.0	2369	MELANOMA	-	-	-	-	L3MBTL4	ENST00000583054,p.D19N|ENST00000284898,p.D19N|ENST00000400104,p.D19N|uc010dkt.3,p.D19N|uc002kmz.4,p.D19N|ENST00000317931,p.D19N|ENST00000583809,p.D19N|uc002kmy.4,p.D19N|ENST00000581231,p.D19N|NM_173464,p.D19N|ENST00000400105,p.D19N	protein_coding, processed_transcript	uc010dkt.3	nonsynonymous SNV	exon3	c.G55A	p.D19N	KRKLNMDSKERLDQDGRLEQAEEEK	KRKLNMDSKERLNQDGRLEQAEEEK	6.0	7.0	-	-	2369_18:6311570-6311570 C>T_KRKLNMDSKERLNQDGRLEQAEEEK
11:60557950-60557950 G>A	0.0	2369	MELANOMA	-	-	ID=COSM1215543;OCCURENCE=1(large_intestine)	-	MS4A10	uc001npz.1,p.E48K|NM_206893,p.E48K|ENST00000308287,p.E48K	protein_coding	uc001npz.1	nonsynonymous SNV	exon2	c.G142A	p.E48K	TTQPKLLAPHQHEKSQKKSSLLKEL	TTQPKLLAPHQHKKSQKKSSLLKEL	1.0	9.0	unscreened	-	2369_11:60557950-60557950 G>A_TTQPKLLAPHQHKKSQKKSSLLKEL
15:85383222-85383222 C>T	0.0	2369	MELANOMA	-	-	-	-	ALPK3	ENST00000258888,p.P440S|uc002ble.3,p.P440S|NM_020778,p.P440S	retained_intron, protein_coding	uc002ble.3	nonsynonymous SNV	exon5	c.C1318T	p.P440S	RLSGAQAPGPSVPTREPEGGTLAAW	RLSGAQAPGPSVSTREPEGGTLAAW	3.0	5.0	unscreened	-	2369_15:85383222-85383222 C>T_RLSGAQAPGPSVSTREPEGGTLAAW
12:5154610-5154610 G>A	0.0	2369	MELANOMA	-	-	-	-	KCNA5	uc001qni.4,p.E433K|ENST00000252321,p.E433K|NM_002234,p.E433K	protein_coding	uc001qni.4	nonsynonymous SNV	exon1	c.G1297A	p.E433K	QILGKTLQASMRELGLLIFFLFIGV	QILGKTLQASMRKLGLLIFFLFIGV	1.0	5.0	unscreened	-	2369_12:5154610-5154610 G>A_QILGKTLQASMRKLGLLIFFLFIGV
X:140785739-140785739 A>C	0.0	2369	MELANOMA	-	rs1059179	-	-	SPANXC,SPANXD	NM_032417,p.F59L|ENST00000370515,p.F59L	protein_coding	NM_032417	nonsynonymous SNV	exon2	c.T177G	p.F59L	SSTILVVRYRRNFKRTSPEELVNDH	SSTILVVRYRRNLKRTSPEELVNDH	1.0	2.0	unscreened	-	2369_X:140785739-140785739 A>C_SSTILVVRYRRNLKRTSPEELVNDH
4:80328108-80328108 C>T	0.0	2369	MELANOMA	-	-	-	-	GK2	NM_033214,p.G416E|ENST00000358842,p.G416E|uc003hlu.3,p.G416E	protein_coding	uc003hlu.3	nonsynonymous SNV	exon1	c.G1247A	p.G416E	TREILEAMNRDCGIPLRHLQVDGGM	TREILEAMNRDCEIPLRHLQVDGGM	1.0	4.0	unscreened	-	2369_4:80328108-80328108 C>T_TREILEAMNRDCEIPLRHLQVDGGM
2:71838751-71838751 G>A	0.0	2369	MELANOMA	-	-	-	-	DYSF	NM_001130455,p.E1389K|ENST00000409582,p.E1405K|ENST00000410041,p.E1406K|uc010fel.3,p.E1375K|uc010feg.3,p.E1419K|NM_001130984,p.E1375K|NM_001130979,p.E1419K|uc002sie.3,p.E1388K|ENST00000410020,p.E1406K|ENST00000409651,p.E1420K|ENST00000409366,p.E1389K|NM_001130987,p.E1406K|uc010fej.3,p.E1375K|uc010fee.3,p.E1388K|NM_001130985,p.E1406K|ENST00000409762,p.E1405K|uc010fem.3,p.E1389K|NM_003494,p.E1388K|NM_001130982,p.E1420K|NM_001130981,p.E1405K|ENST00000258104,p.E1388K|uc002sif.3,p.E1389K|uc010fen.3,p.E1406K|uc002sig.4,p.E1374K|NM_001130976,p.E1374K|ENST00000429174,p.E1388K|uc010feo.3,p.E1420K|NM_001130977,p.E1374K|uc010fef.3,p.E1405K|ENST00000409744,p.E1375K|NM_001130986,p.E1375K|NM_001130983,p.E1389K|ENST00000394120,p.E1389K|uc010fek.3,p.E1406K|uc010yqy.2,p.E269K|NM_001130980,p.E1405K|uc010feh.3,p.E1374K|uc010yqz.2,p.E128K|NM_001130978,p.E1388K|ENST00000413539,p.E1419K|uc010fei.3,p.E1405K	protein_coding, processed_transcript	uc010yqz.2	nonsynonymous SNV	exon4	c.G382A	p.E128K	KNPNFDICTLFMEVMLPREELYCPP	KNPNFDICTLFMKVMLPREELYCPP	4.0	6.0	unscreened	-	2369_2:71838751-71838751 G>A_KNPNFDICTLFMKVMLPREELYCPP
X:140785741-140785741 A>C	0.0	2369	MELANOMA	-	rs1059178	-	-	SPANXC,SPANXD	ENST00000370515,p.F59V|NM_032417,p.F59V	protein_coding	NM_032417	nonsynonymous SNV	exon2	c.T175G	p.F59V	SSTILVVRYRRNFKRTSPEELVNDH	SSTILVVRYRRNVKRTSPEELVNDH	1.0	2.0	unscreened	-	2369_X:140785741-140785741 A>C_SSTILVVRYRRNVKRTSPEELVNDH
17:25904591-25904591 G>A	1.0	2369	MELANOMA	-	-	-	-	KSR1	ENST00000509603,p.R149H|ENST00000319524,p.R149H|uc002gzl.1,p.R30H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gzl.1	nonsynonymous SNV	exon2	c.G89A	p.R30H	EMNEAKVKETLRRCGASGDECGRLQ	EMNEAKVKETLRHCGASGDECGRLQ	7.0	2.0	unscreened	-	2369_17:25904591-25904591 G>A_EMNEAKVKETLRHCGASGDECGRLQ
19:56696603-56696603 G>A	0.0	2369	MELANOMA	-	-	ID=COSM1712924;OCCURENCE=1(skin)	-	GALP	ENST00000357330,p.M105I|NM_033106,p.M105I|uc002qmo.1,p.M105I	protein_coding	uc002qmo.1	nonsynonymous SNV	exon6	c.G315A	p.M105I	AKPEIGDLGMLSMKIPKEEDVLKS	AKPEIGDLGMLSIKIPKEEDVLKS	1.0	8.0	unscreened	-	2369_19:56696603-56696603 G>A_AKPEIGDLGMLSIKIPKEEDVLKS
3:195509257-195509257 G>T	0.0	2369	MELANOMA	-	-	-	2	MUC4	ENST00000462323,p.A3065E|ENST00000480843,p.A3065E|ENST00000466475,p.A3065E|ENST00000470451,p.A3065E|ENST00000477756,p.A3065E|ENST00000475231,p.A3065E|ENST00000478156,p.A3065E|ENST00000477086,p.A3065E|ENST00000463781,p.A3065E|NM_018406,p.A3065E|ENST00000479406,p.A3065E|uc021xjp.1,p.A3065E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C9194A	p.A3065E	HANPLHVTSPSSASTGHATPLPVTD	HANPLHVTSPSSESTGHATPLPVTD	1.0	2.0	unscreened	-	2369_3:195509257-195509257 G>T_HANPLHVTSPSSESTGHATPLPVTD
20:17639738-17639738 A>C	0.0	2369	MELANOMA	-	-	-	-	RRBP1	uc021waw.1,p.V472G|ENST00000377813,p.V472G|ENST00000246043,p.V472G	protein_coding, processed_transcript	uc021waw.1	nonsynonymous SNV	exon1	c.T1415G	p.V472G	KKAEGAQNQGKKVEGAQNQGKKAEG	KKAEGAQNQGKKGEGAQNQGKKAEG	10.0	2.0	unscreened	-	2369_20:17639738-17639738 A>C_KKAEGAQNQGKKGEGAQNQGKKAEG
11:55607138-55607138 G>A	0.0	2369	MELANOMA	-	-	-	-	OR5D16	uc010rio.2,p.R304Q|ENST00000378396,p.R304Q|NM_001005496,p.R304Q	protein_coding	uc010rio.2	nonsynonymous SNV	exon1	c.G911A	p.R304Q	YSLRNKDVKDAIRKIINTKYFHIKH	YSLRNKDVKDAIQKIINTKYFHIKH	1.0	4.0	unscreened	-	2369_11:55607138-55607138 G>A_YSLRNKDVKDAIQKIINTKYFHIKH
6:10802141-10802141 C>T	0.0	2369	MELANOMA	-	-	-	-	MAK	ENST00000536370,p.R272Q	protein_coding, processed_transcript	ENST00000536370	nonsynonymous SNV	exon8	c.G815A	p.R272Q	LMTEMLNWDPKKRPTASQPCFLVEV	LMTEMLNWDPKKQPTASQPCFLVEV	1.0	3.0	unscreened	-	2369_6:10802141-10802141 C>T_LMTEMLNWDPKKQPTASQPCFLVEV
6:159660780-159660797 CCACCACCCGCCGCACGA>-	0.0	2369	MELANOMA	0.78	rs141435210	ID=COSM1441915;OCCURENCE=6(large_intestine)	-	FNDC1	uc010kjv.3,p.1471_1477del|NM_032532,p.1471_1477del|ENST00000340366,p.1408_1414del|ENST00000297267,p.1471_1477del|uc010kjw.1,p.1356_1362del	protein_coding, processed_transcript	uc010kjw.1	nonframeshift deletion	exon12	c.4067_4084del	p.1356_1362del	PLPTTTTPRPTTATTRRTTTTRRTT	PLPTTTTPRPTTATTRRTTTRRPTT	2.0	2.0	unscreened	-	2369_6:159660780-159660797 CCACCACCCGCCGCACGA>-_PLPTTTTPRPTTATTRRTTTRRPTT
7:140453136-140453136 A>T	1.0	2369	MELANOMA	-	-	ID=COSM476;OCCURENCE=3(adrenal_gland),3(urinary_tract),4(genital_tract),7(pancreas),16(liver),68(eye),2(prostate),4161(large_intestine),21(biliary_tract),11(breast),4377(skin),9(small_intestine),1(autonomic_ganglia),20(pituitary),242(ovary),32(soft_tissue),7(testis),459(haematopoietic_and_lymphoid_tissue),9534(thyroid),78(lung),1(meninges),12(upper_aerodigestive_tract),717(NS),15(bone),2(oesophagus),4(stomach),228(central_nervous_system)	1	BRAF	uc003vwc.4,p.V600E|NM_004333,p.V600E|ENST00000288602,p.V600E|ENST00000479537,p.V28E	retained_intron, protein_coding, nonsense_mediated_decay	uc003vwc.4	nonsynonymous SNV	exon15	c.T1799A	p.V600E	LTVKIGDFGLATVKSRWSGSHQFEQ	LTVKIGDFGLATEKSRWSGSHQFEQ	7.0	7.0	-	-	2369_7:140453136-140453136 A>T_LTVKIGDFGLATEKSRWSGSHQFEQ
12:19422819-19422819 G>A	0.0	2369	MELANOMA	-	-	-	-	PLEKHA5	ENST00000317589,p.R276K|NM_019012,p.R276K|NM_001143821,p.R276K|ENST00000538714,p.R276K|ENST00000309364,p.R276K|ENST00000359180,p.R276K|ENST00000543806,p.R168K|ENST00000539256,p.R34K|uc009zin.3,p.R34K|uc010sig.2,p.R168K|ENST00000299275,p.R276K|uc010sih.1,p.R168K|uc001rea.3,p.R276K|ENST00000355397,p.R276K|ENST00000424268,p.R168K|uc001reb.3,p.R276K|ENST00000536974,p.R168K|NM_001256787,p.R168K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sih.1	nonsynonymous SNV	exon7	c.G503A	p.R168K	LDAALVQTEPVKRVDKITSENAPTK	LDAALVQTEPVKKVDKITSENAPTK	10.0	2.0	-	-	2369_12:19422819-19422819 G>A_LDAALVQTEPVKKVDKITSENAPTK
11:7817582-7817582 C>T	0.0	2369	MELANOMA	-	-	ID=COSM1703548;OCCURENCE=1(skin)	-	OR5P2	NM_153444,p.R303K|uc001mfp.1,p.R303K|ENST00000329434,p.R303K	protein_coding	uc001mfp.1	nonsynonymous SNV	exon1	c.G908A	p.R303K	KEIKGALKRELVRKILSHDACYFSR	KEIKGALKRELVKKILSHDACYFSR	1.0	3.0	unscreened	-	2369_11:7817582-7817582 C>T_KEIKGALKRELVKKILSHDACYFSR
9:95237025-95237027 TCA>-	0.0	2369	MELANOMA	-	-	-	-	ASPN	ENST00000375544,p.51_52del|ENST00000395538,p.51_52del|NM_017680,p.51_52del|ENST00000375543,p.51_52del|uc010mqy.2,p.51_52del|uc004ase.2,p.51_52del|NM_001193335,p.51_52del|ENST00000450139,p.23_24del	protein_coding	uc010mqy.2	nonframeshift deletion	exon2	c.153_155del	p.51_52del	DDDDDDDDDDDDDEDNSLFPTREPR	DDDDDDDDDDDDEDNSLFPTREPRS	1.0	2.0	unscreened	-	2369_9:95237025-95237027 TCA>-_DDDDDDDDDDDDEDNSLFPTREPRS
1:152325040-152325040 G>A	0.0	2369	MELANOMA	-	-	-	-	FLG2	ENST00000388718,p.S1741L|NM_001014342,p.S1741L|uc001ezw.4,p.S1741L	protein_coding	uc001ezw.4	nonsynonymous SNV	exon3	c.C5222T	p.S1741L	SEYSDSEGYSGVSHTHSGHTHGQAR	SEYSDSEGYSGVLHTHSGHTHGQAR	2.0	6.0	unscreened	-	2369_1:152325040-152325040 G>A_SEYSDSEGYSGVLHTHSGHTHGQAR
16:2522888-2522888 G>A	0.0	2369	MELANOMA	-	-	-	-	NTN3	uc002cqj.3,p.R372K|NM_006181,p.R372K|ENST00000293973,p.R372K	protein_coding	uc002cqj.3	nonsynonymous SNV	exon2	c.G1115A	p.R372K	DPGRALSDRRACRACDCHPVGAAGK	DPGRALSDRRACKACDCHPVGAAGK	1.0	8.0	unscreened	-	2369_16:2522888-2522888 G>A_DPGRALSDRRACKACDCHPVGAAGK
16:29468956-29468956 G>A	1.0	2369	MELANOMA	-	-	-	-	SLX1A,SLX1B	ENST00000330181,p.E196K|NM_024044,p.E196K|uc002dsx.3,p.E196K|NM_001014999,p.E196K	retained_intron, protein_coding	uc002dsx.3	nonsynonymous SNV	exon4	c.G586A	p.E196K	ACCSLCAQTIQDEEGPLCCPHPGCL	ACCSLCAQTIQDKEGPLCCPHPGCL	8.0	3.0	unscreened	-	2369_16:29468956-29468956 G>A_ACCSLCAQTIQDKEGPLCCPHPGCL
22:24579049-24579049 G>A	0.0	2369	MELANOMA	-	rs35660748	-	-	SUSD2	uc002zzn.1,p.R34H|ENST00000358321,p.R34H|NM_019601,p.R34H	retained_intron, protein_coding	uc002zzn.1	nonsynonymous SNV	exon2	c.G101A	p.R34H	GPTADAQESCSMRCGALDGPCSCHP	GPTADAQESCSMHCGALDGPCSCHP	3.0	2.0	unscreened	-	2369_22:24579049-24579049 G>A_GPTADAQESCSMHCGALDGPCSCHP
11:76892447-76892447 C>T	0.0	2369	MELANOMA	-	-	ID=COSM1357086;OCCURENCE=1(large_intestine)	-	MYO7A	NM_001127180,p.R906C|uc001oyb.2,p.R906C|uc010rsl.2,p.R906C|NM_000260,p.R906C|ENST00000458637,p.R906C|uc009yut.1,p.R117C|uc001oyc.2,p.R906C|ENST00000458169,p.R87C|ENST00000409619,p.R895C|NM_001127179,p.R906C|ENST00000409709,p.R906C|uc010rsm.1,p.R895C|uc001oyd.3,p.R246C|ENST00000409893,p.R906C	retained_intron, protein_coding, processed_transcript	uc010rsm.1	nonsynonymous SNV	exon24	c.C2683T	p.R895C	ERKHQERLAQLAREDAERELKEKEA	ERKHQERLAQLACEDAERELKEKEA	5.0	2.0	unscreened	-	2369_11:76892447-76892447 C>T_ERKHQERLAQLACEDAERELKEKEA
17:72443088-72443088 C>T	0.0	2369	MELANOMA	-	-	-	-	GPRC5C	ENST00000342648,p.A101V|uc002jku.3,p.A171V|ENST00000392627,p.A461V|uc002jkp.3,p.A461V|NM_022036,p.A461V|uc002jkt.3,p.A416V|ENST00000392629,p.A428V|NM_018653,p.A428V|uc002jkr.3,p.A428V	retained_intron, protein_coding, processed_transcript	uc002jku.3	nonsynonymous SNV	exon2	c.C512T	p.A171V	ANSTLRAEDMYSAQSHQAATPPKDG	ANSTLRAEDMYSVQSHQAATPPKDG	2.0	2.0	unscreened	-	2369_17:72443088-72443088 C>T_ANSTLRAEDMYSVQSHQAATPPKDG
2:189599479-189599479 C>T	0.0	2369	MELANOMA	-	-	-	-	DIRC1	uc021vtu.1,p.E57K|uc002uqi.1,p.E57K|ENST00000308100,p.E57K|NM_052952,p.E57K	protein_coding	uc021vtu.1	nonsynonymous SNV	exon1	c.G169A	p.E57K	NAQNCSSAAATLEPSIISDTCFYKP	NAQNCSSAAATLKPSIISDTCFYKP	1.0	7.0	unscreened	-	2369_2:189599479-189599479 C>T_NAQNCSSAAATLKPSIISDTCFYKP
19:9021118-9021118 C>T	0.0	2369	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.G12402E|uc002mkp.3,p.G12402E|NM_024690,p.G12402E	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon19	c.G37205A	p.G12402E	FTLNFTITNLQYGEDMGHPGSRKFN	FTLNFTITNLQYEEDMGHPGSRKFN	1.0	2.0	unscreened	-	2369_19:9021118-9021118 C>T_FTLNFTITNLQYEEDMGHPGSRKFN
2:131981557-131981557 G>A	0.0	2369	MELANOMA	-	-	-	-	POTEE	ENST00000358087,p.D261N|NM_001083538,p.D251N|uc002tsn.2,p.D251N|ENST00000356920,p.D251N	protein_coding	uc002tsn.2	nonsynonymous SNV	exon3	c.G751A	p.D251N	GNTTLHYAIYNEDKLMAKALLLYGA	GNTTLHYAIYNENKLMAKALLLYGA	5.0	7.0	unscreened	-	2369_2:131981557-131981557 G>A_GNTTLHYAIYNENKLMAKALLLYGA
5:36039597-36039597 G>A	0.0	2369	MELANOMA	-	-	-	-	UGT3A2	uc011cot.2,p.P51S|uc003jjz.2,p.P353S|NM_174914,p.P353S|NM_001168316,p.P319S|uc011cos.2,p.P319S|ENST00000513300,p.P319S|ENST00000282507,p.P353S|ENST00000545528,p.P51S	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cot.2	nonsynonymous SNV	exon4	c.C151T	p.P51S	HLAANVKIVDWLPQSDLLAHPSIRL	HLAANVKIVDWLSQSDLLAHPSIRL	1.0	7.0	unscreened	-	2369_5:36039597-36039597 G>A_HLAANVKIVDWLSQSDLLAHPSIRL
4:72994340-72994340 A>G	0.0	2369	MELANOMA	-	-	-	-	NPFFR2	uc003hgg.2,p.E113G|ENST00000308744,p.E113G|ENST00000395999,p.E14G|NM_001144756,p.E14G|uc003hgi.2,p.E14G|NM_004885,p.E113G	protein_coding, processed_transcript	uc003hgi.2	nonsynonymous SNV	exon3	c.A41G	p.E14G	FIMNEKWDTNSSENWHPIWNVNDTK	FIMNEKWDTNSSGNWHPIWNVNDTK	2.0	8.0	unscreened	-	2369_4:72994340-72994340 A>G_FIMNEKWDTNSSGNWHPIWNVNDTK
2:56145149-56145149 T>A	0.0	2369	MELANOMA	-	-	-	-	EFEMP1	ENST00000394554,p.K56N|ENST00000440439,p.K56N|NM_001039348,p.K56N|uc002rzi.3,p.K56N|ENST00000429909,p.K56N|ENST00000355426,p.K56N|ENST00000438672,p.K56N|ENST00000439193,p.K56N|ENST00000394555,p.K56N|uc002rzj.3,p.K56N|NM_001039349,p.K56N	retained_intron, protein_coding, processed_transcript	uc002rzj.3	nonsynonymous SNV	exon4	c.A168T	p.K56N	DIDECDIVPDACKGGMKCVNHYGGY	DIDECDIVPDACNGGMKCVNHYGGY	1.0	5.0	unscreened	-	2369_2:56145149-56145149 T>A_DIDECDIVPDACNGGMKCVNHYGGY
7:96635420-96635420 ->GCC	0.0	2369	MELANOMA	-	-	ID=COSM1723944;OCCURENCE=1(NS)	-	DLX6	ENST00000518156,p.Q44delinsQP|uc022ahu.1,p.Q44delinsQP|NM_005222,p.Q44delinsQP	protein_coding, processed_transcript	uc022ahu.1	nonframeshift insertion	exon1	c.131_132insGCC	p.Q44delinsQP	QQQQQQQQQQQQQPPPPPPPPPQPH	QQQQQQQQQQQQQPPPPPPPPPPQP	3.0	2.0	unscreened	-	2369_7:96635420-96635420 ->GCC_QQQQQQQQQQQQQPPPPPPPPPPQP
4:47939220-47939220 C>T	1.0	2369	MELANOMA	-	-	-	-	CNGA1	uc003gxt.4,p.E431K|NM_001142564,p.E500K|ENST00000514170,p.E431K|ENST00000544810,p.E431K|uc003gxu.3,p.E500K|ENST00000420489,p.E431K|ENST00000358519,p.E431K|ENST00000402813,p.E500K|NM_000087,p.E431K	retained_intron, protein_coding	uc003gxu.3	nonsynonymous SNV	exon10	c.G1498A	p.E500K	QYMHFRNVSKDMEKRVIKWFDYLWT	QYMHFRNVSKDMKKRVIKWFDYLWT	7.0	4.0	-	-	2369_4:47939220-47939220 C>T_QYMHFRNVSKDMKKRVIKWFDYLWT
2:158177997-158177997 G>A	0.0	2369	MELANOMA	-	-	-	-	ERMN	ENST00000410096,p.S214F|NM_020711,p.S214F|ENST00000420719,p.S194F|ENST00000397283,p.S227F|NM_001009959,p.S227F|uc002tzh.3,p.S214F|uc010zcj.2,p.S108F|ENST00000535935,p.S108F|uc002tzi.3,p.S227F|uc010zck.2,p.S194F	protein_coding, nonsense_mediated_decay	uc010zck.2	nonsynonymous SNV	exon3	c.C581T	p.S194F	RVIEFKKKHEEVSQFKEEGDASEDS	RVIEFKKKHEEVFQFKEEGDASEDS	1.0	8.0	unscreened	-	2369_2:158177997-158177997 G>A_RVIEFKKKHEEVFQFKEEGDASEDS
1:110257831-110257831 T>C	0.0	2369	MELANOMA	0.14	rs2227963	ID=COSM42621;OCCURENCE=7(central_nervous_system),1(kidney),5(large_intestine),1(skin)	-	GSTM5	NM_000851,p.L179P|ENST00000256593,p.L179P|ENST00000369812,p.L198P|uc001dyn.3,p.L179P	protein_coding, processed_transcript	uc001dyn.3	nonsynonymous SNV	exon7	c.T536C	p.L179P	KRIFEPKCLDAFLNLKDFISRFEGL	KRIFEPKCLDAFPNLKDFISRFEGL	2.0	4.0	unscreened	-	2369_1:110257831-110257831 T>C_KRIFEPKCLDAFPNLKDFISRFEGL
12:25054785-25054785 C>T	0.0	2369	MELANOMA	-	-	-	-	BCAT1	ENST00000539780,p.G14E|NM_001178091,p.G14E|uc010siy.2,p.G14E|uc001rgd.4,p.G14E|ENST00000261192,p.G14E|NM_005504,p.G14E	protein_coding, processed_transcript	uc010siy.2	nonsynonymous SNV	exon2	c.G41A	p.G14E	KDCSNGCSAECTGEGGSKEVVGTFK	KDCSNGCSAECTEEGGSKEVVGTFK	1.0	8.0	unscreened	-	2369_12:25054785-25054785 C>T_KDCSNGCSAECTEEGGSKEVVGTFK
12:25054785-25054785 C>T	0.0	2369	MELANOMA	-	-	-	-	BCAT1	uc001rgc.3,p.G13E|NM_001178094,p.G13E|ENST00000538118,p.G13E	protein_coding, processed_transcript	uc001rgc.3	nonsynonymous SNV	exon2	c.G38A	p.G13E	MDCSNGCSAECTGEGGSKEVVGTFK	MDCSNGCSAECTEEGGSKEVVGTFK	1.0	8.0	unscreened	-	2369_12:25054785-25054785 C>T_MDCSNGCSAECTEEGGSKEVVGTFK
12:25054785-25054785 C>T	0.0	2369	MELANOMA	-	-	-	-	BCAT1	uc010six.2,p.G26E|ENST00000539282,p.G26E|NM_001178093,p.G26E	protein_coding, processed_transcript	uc010six.2	nonsynonymous SNV	exon2	c.G77A	p.G26E	QDCSNGCSAECTGEGGSKEVVGTFK	QDCSNGCSAECTEEGGSKEVVGTFK	1.0	8.0	unscreened	-	2369_12:25054785-25054785 C>T_QDCSNGCSAECTEEGGSKEVVGTFK
9:35401992-35401992 C>T	0.0	2369	MELANOMA	-	-	-	-	UNC13B	ENST00000378496,p.R1428C|uc003zwr.3,p.R1428C|ENST00000396787,p.R1440C	protein_coding, processed_transcript	uc003zwr.3	nonsynonymous SNV	exon37	c.C4282T	p.R1428C	GKGIRFTANEDIRPEKGSGVDDPVG	GKGIRFTANEDICPEKGSGVDDPVG	7.0	8.0	-	-	2369_9:35401992-35401992 C>T_GKGIRFTANEDICPEKGSGVDDPVG
3:77693924-77693924 C>T	0.0	2369	MELANOMA	-	-	-	2	ROBO2	ENST00000332191,p.A1396V|ENST00000461745,p.A1335V|uc003dpz.3,p.A1400V|NM_002942,p.A1335V|uc003dpy.4,p.A1335V|uc011bgk.2,p.A1339V|ENST00000487694,p.A1351V|uc011bgj.3,p.A742V|NM_001290039,p.A1339V|NM_001290065,p.A742V|uc021xat.1,p.A1351V|NM_001290040,p.A1400V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xat.1	nonsynonymous SNV	exon25	c.C4052T	p.A1351V	FPSPGGHSSSGTASSKGSTGPRKTE	FPSPGGHSSSGTVSSKGSTGPRKTE	5.0	8.0	unscreened	-	2369_3:77693924-77693924 C>T_FPSPGGHSSSGTVSSKGSTGPRKTE
3:38598724-38598724 C>T	0.0	2369	MELANOMA	-	-	-	-	SCN5A	uc021wvr.1,p.G1433R|NM_001160160,p.G1432R|uc021wvi.1,p.G1299R|NM_001160161,p.G1379R|ENST00000455624,p.G1432R|ENST00000451551,p.G1379R|ENST00000449557,p.G1379R|ENST00000423572,p.G1432R|uc021wvn.1,p.G1432R|ENST00000443581,p.G1432R|ENST00000450102,p.G1379R|uc021wvt.1,p.G1432R|NM_198056,p.G1433R|uc021wvo.1,p.G1433R|uc021wvp.1,p.G1433R|uc021wvq.1,p.G1432R|ENST00000413689,p.G1433R|uc021wvk.1,p.G1432R|uc021wvs.1,p.G1433R|uc021wvj.1,p.G1245R|NM_001099404,p.G1433R|uc021wvl.1,p.G1379R|NM_000335,p.G1432R|ENST00000333535,p.G1433R|uc021wvu.1,p.G1379R	retained_intron, protein_coding, processed_transcript	uc021wvu.1	nonsynonymous SNV	exon23	c.G4135A	p.G1379R	WMDIMYAAVDSRGYEEQPQWEYNLY	WMDIMYAAVDSRRYEEQPQWEYNLY	2.0	6.0	unscreened	-	2369_3:38598724-38598724 C>T_WMDIMYAAVDSRRYEEQPQWEYNLY
7:142626144-142626144 C>T	1.0	2369	MELANOMA	-	-	-	-	TRPV5	NM_019841,p.A187T|uc003wby.1,p.A187T|ENST00000265310,p.A187T|ENST00000439304,p.A181T|ENST00000442623,p.A187T|uc003wbz.3,p.A187T	protein_coding	uc003wbz.3	nonsynonymous SNV	exon5	c.G559A	p.A187T	SEEIVRLLIEHGADIRAQDSLGNTV	SEEIVRLLIEHGTDIRAQDSLGNTV	3.0	7.0	unscreened	-	2369_7:142626144-142626144 C>T_SEEIVRLLIEHGTDIRAQDSLGNTV
14:70925294-70925294 G>A	0.0	2369	MELANOMA	-	-	-	-	ADAM21	ENST00000267499,p.E360K|uc021rvq.1,p.E360K|ENST00000603540,p.E360K|NM_003813,p.E360K|uc001xmd.3,p.E360K	protein_coding	uc021rvq.1	nonsynonymous SNV	exon1	c.G1078A	p.E360K	GMQHDEEFCFCGERGCIMNTFRVPA	GMQHDEEFCFCGKRGCIMNTFRVPA	3.0	3.0	unscreened	-	2369_14:70925294-70925294 G>A_GMQHDEEFCFCGKRGCIMNTFRVPA
4:85556418-85556418 T>C	0.0	2369	MELANOMA	-	-	-	-	CDS1	NM_001263,p.F242L|uc011ccv.2,p.F242L|ENST00000295887,p.F242L|uc010ike.1,p.F46L	protein_coding, nonsense_mediated_decay	uc011ccv.2	nonsynonymous SNV	exon8	c.T724C	p.F242L	LVIQNLFEGMIWFLVPISSVICNDI	LVIQNLFEGMIWLLVPISSVICNDI	2.0	3.0	unscreened	-	2369_4:85556418-85556418 T>C_LVIQNLFEGMIWLLVPISSVICNDI
7:146741005-146741005 C>T	0.0	2369	MELANOMA	-	-	ID=COSM745057;OCCURENCE=1(lung)	2	CNTNAP2	NM_014141,p.P137S|ENST00000361727,p.P137S|uc003weu.2,p.P137S	protein_coding, processed_transcript	uc003weu.2	nonsynonymous SNV	exon4	c.C409T	p.P137S	KPYHQDGNIWAFPGNINSDGVVRHE	KPYHQDGNIWAFSGNINSDGVVRHE	1.0	8.0	unscreened	-	2369_7:146741005-146741005 C>T_KPYHQDGNIWAFSGNINSDGVVRHE
3:8787384-8787384 C>T	0.0	2369	MELANOMA	-	-	ID=COSM3714681;OCCURENCE=1(upper_aerodigestive_tract)	-	CAV3	NM_001234,p.S96F|ENST00000343849,p.S96F|uc003bra.3,p.S96F|NM_033337,p.S96F|ENST00000397368,p.S96F|uc003brb.3,p.S96F	protein_coding, processed_transcript	uc003brb.3	nonsynonymous SNV	exon2	c.C287T	p.S96F	LALLWGFLFACISFCHIWAVVPCIK	LALLWGFLFACIFFCHIWAVVPCIK	1.0	6.0	unscreened	-	2369_3:8787384-8787384 C>T_LALLWGFLFACIFFCHIWAVVPCIK
17:10400508-10400508 C>T	0.0	2369	MELANOMA	-	-	-	-	MYH1	NM_005963,p.E1512K|uc002gmo.3,p.E1512K|ENST00000226207,p.E1512K	protein_coding	uc002gmo.3	nonsynonymous SNV	exon33	c.G4534A	p.E1512K	ETLKRENKNLQQEISDLTEQIAEGG	ETLKRENKNLQQKISDLTEQIAEGG	2.0	8.0	unscreened	-	2369_17:10400508-10400508 C>T_ETLKRENKNLQQKISDLTEQIAEGG
7:1586653-1586653 ->GCC	0.0	2369	MELANOMA	0.6	rs112463195	ID=COSM1088016;OCCURENCE=1(endometrium),2(large_intestine),4(breast)	-	TMEM184A	ENST00000297477,p.S393delinsGS|uc021zyr.1,p.S198delinsGS|NM_001097620,p.S393delinsGS|uc003skv.4,p.S393delinsGS|uc003skt.4,p.S372delinsGS	retained_intron, protein_coding, nonsense_mediated_decay	uc021zyr.1	nonframeshift insertion	exon7	c.591_592insGGC	p.S198delinsGS	EAPRPGTHPSGGSGGSRKSRSLEKR	EAPRPGTHPSGGGSGGSRKSRSLEK	4.0	3.0	unscreened	-	2369_7:1586653-1586653 ->GCC_EAPRPGTHPSGGGSGGSRKSRSLEK
1:110257831-110257831 T>C	0.0	2369	MELANOMA	0.14	rs2227963	ID=COSM42621;OCCURENCE=7(central_nervous_system),1(kidney),5(large_intestine),1(skin)	-	GSTM5	uc010ovu.1,p.L138P|ENST00000369813,p.L138P	protein_coding, processed_transcript	uc010ovu.1	nonsynonymous SNV	exon5	c.T413C	p.L138P	KRIFEPKCLDAFLNLKDFISRFEVM	KRIFEPKCLDAFPNLKDFISRFEVM	2.0	4.0	unscreened	-	2369_1:110257831-110257831 T>C_KRIFEPKCLDAFPNLKDFISRFEVM
8:125083792-125083792 G>A	0.0	2369	MELANOMA	-	-	-	-	FER1L6	uc003yqw.3,p.D1338N|ENST00000522917,p.D1338N|ENST00000399018,p.D1338N|NM_001039112,p.D1338N	protein_coding	uc003yqw.3	nonsynonymous SNV	exon31	c.G4012A	p.D1338N	CIYKSPQDSSSEDSGQLRIQQGIPP	CIYKSPQDSSSENSGQLRIQQGIPP	1.0	7.0	unscreened	-	2369_8:125083792-125083792 G>A_CIYKSPQDSSSENSGQLRIQQGIPP
17:10428152-10428152 C>T	0.0	2369	MELANOMA	-	-	-	-	MYH2	NM_017534,p.M1631I|ENST00000397183,p.M1631I|NM_001100112,p.M1631I|uc010coi.3,p.M1631I|uc002gmp.4,p.M1631I|ENST00000245503,p.M1631I	protein_coding	uc010coi.3	nonsynonymous SNV	exon34	c.G4893A	p.M1631I	RLKKKMEGDLNEMEIQLNHANRMAA	RLKKKMEGDLNEIEIQLNHANRMAA	1.0	3.0	unscreened	-	2369_17:10428152-10428152 C>T_RLKKKMEGDLNEIEIQLNHANRMAA
9:139946725-139946725 C>T	0.0	2369	MELANOMA	-	-	-	-	ENTPD2	ENST00000355097,p.D65N|uc004ckw.2,p.D65N|ENST00000312665,p.D65N|NM_203468,p.D65N|uc004ckx.2,p.D65N|NM_001246,p.D65N	protein_coding, processed_transcript	uc004ckx.2	nonsynonymous SNV	exon2	c.G193A	p.D65N	MFIYKWPADKENDTGIVGQHSSCDV	MFIYKWPADKENNTGIVGQHSSCDV	2.0	6.0	unscreened	-	2369_9:139946725-139946725 C>T_MFIYKWPADKENNTGIVGQHSSCDV
2:27731038-27731038 C>T	0.0	2369	MELANOMA	-	-	-	-	GCKR	uc002rky.3,p.P448S|ENST00000424318,p.P258S|ENST00000264717,p.P448S|uc010ylu.2,p.P258S|uc010ezd.3,p.P446S|NM_001486,p.P448S	retained_intron, protein_coding, nonsense_mediated_decay	uc010ylu.2	nonsynonymous SNV	exon15	c.C772T	p.P258S	LAHSTVGQTLLIPLKKLFPSIISIT	LAHSTVGQTLLISLKKLFPSIISIT	1.0	5.0	unscreened	-	2369_2:27731038-27731038 C>T_LAHSTVGQTLLISLKKLFPSIISIT
11:58979227-58979227 C>T	0.0	2369	MELANOMA	-	-	-	-	MPEG1	ENST00000361050,p.G371E|NM_001039396,p.G371E|uc001nnu.4,p.G371E	protein_coding	uc001nnu.4	nonsynonymous SNV	exon1	c.G1112A	p.G371E	NFQANTDDGSCEGKMTNFSFGGVYQ	NFQANTDDGSCEEKMTNFSFGGVYQ	1.0	3.0	unscreened	-	2369_11:58979227-58979227 C>T_NFQANTDDGSCEEKMTNFSFGGVYQ
3:189586382-189586382 G>A	0.0	2369	MELANOMA	-	-	-	1	TP63	ENST00000449992,p.G157S|NM_001114981,p.G242S|NM_001114980,p.G242S|uc003fse.1,p.G217S|NM_001114978,p.G336S|uc003fsb.2,p.G242S|ENST00000440651,p.G336S|ENST00000437221,p.G242S|uc003fry.2,p.G336S|uc003frz.2,p.G336S|uc003fsd.2,p.G242S|uc003fsa.2,p.G242S|ENST00000382063,p.G251S|ENST00000354600,p.G242S|NM_001114982,p.G242S|uc010hzc.1,p.G336S|ENST00000418709,p.G336S|NM_003722,p.G336S|ENST00000392461,p.G242S|uc003fsc.2,p.G242S|uc003frx.2,p.G336S|ENST00000456148,p.G242S|ENST00000392460,p.G336S|uc010hzd.1,p.G157S|ENST00000392463,p.G242S|NM_001114979,p.G336S|ENST00000320472,p.G336S|ENST00000264731,p.G336S|uc021xir.1,p.G242S	retained_intron, protein_coding	uc021xir.1	nonsynonymous SNV	exon6	c.G724A	p.G242S	IVTLETRDGQVLGRRCFEARICACP	IVTLETRDGQVLSRRCFEARICACP	2.0	6.0	unscreened	-	2369_3:189586382-189586382 G>A_IVTLETRDGQVLSRRCFEARICACP
3:121712722-121712722 C>T	0.0	2369	MELANOMA	-	-	-	-	ILDR1	uc003ees.3,p.E292K|ENST00000393631,p.E203K|NM_175924,p.E248K|NM_001199799,p.E292K|ENST00000344209,p.E292K|uc003eer.3,p.E248K|uc003eeq.3,p.E260K|ENST00000273691,p.E248K|ENST00000462014,p.E260K|uc010hrg.3,p.E203K|NM_001199800,p.E203K	protein_coding, processed_transcript	uc010hrg.3	nonsynonymous SNV	exon5	c.G607A	p.E203K	PIANGVLEYLEKELRNLNLAQPLPP	PIANGVLEYLEKKLRNLNLAQPLPP	1.0	6.0	unscreened	-	2369_3:121712722-121712722 C>T_PIANGVLEYLEKKLRNLNLAQPLPP
1:196876487-196876487 G>A	0.0	2369	MELANOMA	-	-	-	-	CFHR4	NM_001201551,p.G219R|NM_001201550,p.G220R|uc009wyy.3,p.G219R|uc001gtp.3,p.G220R|ENST00000367416,p.G219R	protein_coding	uc009wyy.3	nonsynonymous SNV	exon5	c.G655A	p.G219R	SENCGPPPPISNGDTTSFPQKVYLP	SENCGPPPPISNRDTTSFPQKVYLP	2.0	7.0	unscreened	-	2369_1:196876487-196876487 G>A_SENCGPPPPISNRDTTSFPQKVYLP
8:17157478-17157478 C>T	0.0	2369	MELANOMA	0.0	-	-	-	MTMR7	ENST00000180173,p.G626R|uc011kya.2,p.G260R|uc011kyb.2,p.G217R|uc003wxm.3,p.G626R|NM_004686,p.G626R|ENST00000398099,p.G217R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kyb.2	nonsynonymous SNV	exon5	c.G649A	p.G217R	DPDLSANSDQESGVEDLSCRSPSGG	DPDLSANSDQESRVEDLSCRSPSGG	4.0	8.0	unscreened	-	2369_8:17157478-17157478 C>T_DPDLSANSDQESRVEDLSCRSPSGG
7:120971965-120971965 G>A	0.0	2369	MELANOMA	-	-	-	-	WNT16	NM_057168,p.E194K|ENST00000361301,p.E184K|uc003vjw.3,p.E194K|NM_016087,p.E184K|uc003vjv.3,p.E184K|ENST00000222462,p.E194K	protein_coding	uc003vjw.3	nonsynonymous SNV	exon3	c.G580A	p.E194K	FLDFPIGNTTGKENKVLLAMNLHNN	FLDFPIGNTTGKKNKVLLAMNLHNN	1.0	7.0	unscreened	-	2369_7:120971965-120971965 G>A_FLDFPIGNTTGKKNKVLLAMNLHNN
15:86807642-86807642 T>C	0.0	2369	MELANOMA	-	-	-	-	AGBL1	NM_152336,p.S368P|ENST00000441037,p.S368P|ENST00000389298,p.S99P|uc002blz.1,p.S368P|uc002bmb.1,p.S62P|uc002bma.1,p.S99P|ENST00000421325,p.S368P	retained_intron, protein_coding	uc002bmb.1	nonsynonymous SNV	exon2	c.T184C	p.S62P	SCGQEREYAVQTSLLCRVKTGRSTV	SCGQEREYAVQTPLLCRVKTGRSTV	1.0	6.0	unscreened	-	2369_15:86807642-86807642 T>C_SCGQEREYAVQTPLLCRVKTGRSTV
20:43837307-43837307 C>G	0.0	2369	MELANOMA	-	-	-	-	SEMG1	uc002xnj.2,p.R397G|uc002xni.2,p.R457G|ENST00000244069,p.R397G|ENST00000372781,p.R457G|NM_003007,p.R457G	protein_coding	uc002xnj.2	nonsynonymous SNV	exon3	c.C1189G	p.R397G	SDRHLAQHLNNDRNPLFT	SDRHLAQHLNNDGNPLFT	1.0	3.0	unscreened	-	2369_20:43837307-43837307 C>G_SDRHLAQHLNNDGNPLFT
12:25054786-25054786 C>T	0.0	2369	MELANOMA	-	-	ID=COSM1184550;OCCURENCE=1(large_intestine)	-	BCAT1	ENST00000539282,p.G26R|uc010six.2,p.G26R|NM_001178093,p.G26R	protein_coding, processed_transcript	uc010six.2	nonsynonymous SNV	exon2	c.G76A	p.G26R	QDCSNGCSAECTGEGGSKEVVGTFK	QDCSNGCSAECTREGGSKEVVGTFK	1.0	8.0	unscreened	-	2369_12:25054786-25054786 C>T_QDCSNGCSAECTREGGSKEVVGTFK
12:25054786-25054786 C>T	0.0	2369	MELANOMA	-	-	ID=COSM1184550;OCCURENCE=1(large_intestine)	-	BCAT1	ENST00000538118,p.G13R|uc001rgc.3,p.G13R|NM_001178094,p.G13R	protein_coding, processed_transcript	uc001rgc.3	nonsynonymous SNV	exon2	c.G37A	p.G13R	MDCSNGCSAECTGEGGSKEVVGTFK	MDCSNGCSAECTREGGSKEVVGTFK	1.0	8.0	unscreened	-	2369_12:25054786-25054786 C>T_MDCSNGCSAECTREGGSKEVVGTFK
12:25054786-25054786 C>T	0.0	2369	MELANOMA	-	-	ID=COSM1184550;OCCURENCE=1(large_intestine)	-	BCAT1	ENST00000261192,p.G14R|ENST00000539780,p.G14R|NM_005504,p.G14R|uc001rgd.4,p.G14R|NM_001178091,p.G14R|uc010siy.2,p.G14R	protein_coding, processed_transcript	uc010siy.2	nonsynonymous SNV	exon2	c.G40A	p.G14R	KDCSNGCSAECTGEGGSKEVVGTFK	KDCSNGCSAECTREGGSKEVVGTFK	1.0	8.0	unscreened	-	2369_12:25054786-25054786 C>T_KDCSNGCSAECTREGGSKEVVGTFK
12:7045892-7045912 CAGCAGCAGCAGCAGCAGCAG>-	0.0	2369	MELANOMA	-	-	ID=COSM1476884;OCCURENCE=1(breast)	-	ATN1	NM_001007026,p.488_494del|uc001qrx.1,p.488_494del|uc001qrw.1,p.488_494del|NM_001940,p.488_494del|ENST00000396684,p.488_494del|ENST00000356654,p.488_494del	retained_intron, protein_coding	uc001qrx.1	nonframeshift deletion	exon5	c.1462_1482del	p.488_494del	VSTHHHHHQQQQQQQQQQQQQQQQQ	VSTHHHHHQQQQQQQQQQQQHHGNS	9.0	2.0	unscreened	-	2369_12:7045892-7045912 CAGCAGCAGCAGCAGCAGCAG>-_VSTHHHHHQQQQQQQQQQQQHHGNS
17:7800441-7800441 G>A	1.0	2369	MELANOMA	-	-	-	-	CHD3	ENST00000380358,p.R642Q|uc002gjf.2,p.R583Q|NM_005852,p.R583Q|uc002gjg.1,p.R411Q|uc002gjd.2,p.R642Q|ENST00000330494,p.R583Q|uc002gje.2,p.R583Q|NM_001005271,p.R642Q|NM_001005273,p.R583Q|ENST00000358181,p.R583Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gjg.1	nonsynonymous SNV	exon8	c.G1232A	p.R411Q	EIFHLVMYRNYQRKNDMDEPPPLDY	EIFHLVMYRNYQQKNDMDEPPPLDY	9.0	4.0	-	-	2369_17:7800441-7800441 G>A_EIFHLVMYRNYQQKNDMDEPPPLDY
16:48138201-48138201 C>T	0.0	2369	MELANOMA	0.0009	-	ID=COSM970944;OCCURENCE=1(large_intestine),1(endometrium)	-	ABCC12	ENST00000497206,p.E915K|ENST00000534418,p.E836K|uc002efc.1,p.E918K|ENST00000311303,p.E918K|ENST00000532494,p.E915K|NM_033226,p.E918K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002efc.1	nonsynonymous SNV	exon20	c.G2752A	p.E918K	GRLMNRFSKDMDELDVRLPFHAENF	GRLMNRFSKDMDKLDVRLPFHAENF	1.0	3.0	unscreened	-	2369_16:48138201-48138201 C>T_GRLMNRFSKDMDKLDVRLPFHAENF
2:215890473-215890473 C>T	0.0	2369	MELANOMA	-	-	ID=COSM256218;OCCURENCE=2(large_intestine),1(skin)	-	ABCA12	ENST00000389661,p.R86Q|ENST00000272895,p.R404Q|uc002vev.3,p.R86Q|uc002vew.3,p.R404Q|NM_173076,p.R404Q|NM_015657,p.R86Q	protein_coding	uc002vew.3	nonsynonymous SNV	exon11	c.G1211A	p.R404Q	SPENLRLLQSTIRFKKSFLRNGSYE	SPENLRLLQSTIQFKKSFLRNGSYE	1.0	8.0	unscreened	-	2369_2:215890473-215890473 C>T_SPENLRLLQSTIQFKKSFLRNGSYE
9:32631184-32631184 C>T	0.0	2369	MELANOMA	-	-	-	-	TAF1L	uc003zrg.1,p.R1465K|NM_153809,p.R1465K|ENST00000242310,p.R1465K	protein_coding	uc003zrg.1	nonsynonymous SNV	exon1	c.G4394A	p.R1465K	VRKCLYPSREEFREHLELIVKNSAT	VRKCLYPSREEFKEHLELIVKNSAT	2.0	5.0	unscreened	-	2369_9:32631184-32631184 C>T_VRKCLYPSREEFKEHLELIVKNSAT
19:56273392-56273392 G>A	0.0	2369	MELANOMA	-	-	-	-	RFPL4A	NM_001145014,p.E76K|uc010yge.2,p.E76K|ENST00000434937,p.E76K	protein_coding	uc010yge.2	nonsynonymous SNV	exon2	c.G226A	p.E76K	KYKLRALVSIIKELEPKLKSVLTMN	KYKLRALVSIIKKLEPKLKSVLTMN	1.0	4.0	unscreened	-	2369_19:56273392-56273392 G>A_KYKLRALVSIIKKLEPKLKSVLTMN
5:176951636-176951636 C>T	1.0	2369	MELANOMA	-	-	-	-	FAM193B	uc003mht.3,p.E242K|ENST00000514747,p.E616K|NM_001190946,p.E616K|ENST00000443375,p.E583K|uc003mhu.3,p.E616K|ENST00000329540,p.E242K|uc003mhr.3,p.E120K|uc003mhv.3,p.E242K|uc021yiw.1,p.E242K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021yiw.1	nonsynonymous SNV	exon3	c.G724A	p.E242K	PGYPSSEEPSSKEVPSCKQELPEPV	PGYPSSEEPSSKKVPSCKQELPEPV	7.0	4.0	-	-	2369_5:176951636-176951636 C>T_PGYPSSEEPSSKKVPSCKQELPEPV
19:38380607-38380607 C>T	0.0	2369	MELANOMA	-	-	-	-	WDR87	uc010efu.2,p.G1196E|uc002ohj.2,p.G1235E|NM_001291088,p.G1235E|ENST00000303868,p.G1196E|NM_031951,p.G1196E|ENST00000447313,p.G1235E	retained_intron, protein_coding	uc010efu.2	nonsynonymous SNV	exon6	c.G3587A	p.G1196E	TAQKLKKKHKKKGKEAKVINEETTP	TAQKLKKKHKKKEKEAKVINEETTP	1.0	8.0	unscreened	-	2369_19:38380607-38380607 C>T_TAQKLKKKHKKKEKEAKVINEETTP
20:15210631-15210631 G>A	0.0	2369	MELANOMA	-	-	-	-	MACROD2	ENST00000217246,p.G155D|ENST00000310348,p.G155D|uc002wou.3,p.G155D|NM_080676,p.G155D|uc002wot.3,p.G155D	protein_coding, processed_transcript	uc002wou.3	nonsynonymous SNV	exon6	c.G464A	p.G155D	HTVGPIARGHINGSHKEDLANCYKS	HTVGPIARGHINDSHKEDLANCYKS	5.0	6.0	unscreened	-	2369_20:15210631-15210631 G>A_HTVGPIARGHINDSHKEDLANCYKS
1:176838017-176838017 C>T	0.0	2369	MELANOMA	-	-	-	-	ASTN1	uc001gld.1,p.E1204K|uc001glc.3,p.E1204K|NM_004319,p.E1204K|uc001glb.1,p.E1204K|ENST00000367654,p.E1212K|ENST00000361833,p.E1204K|ENST00000424564,p.E1204K|ENST00000367657,p.E1204K|NM_207108,p.E1204K|NM_001286164,p.E1204K	protein_coding, processed_transcript	uc001gld.1	nonsynonymous SNV	exon22	c.G3610A	p.E1204K	LYHYNQHYESFGEFTWRCEDELGPR	LYHYNQHYESFGKFTWRCEDELGPR	1.0	6.0	unscreened	-	2369_1:176838017-176838017 C>T_LYHYNQHYESFGKFTWRCEDELGPR
7:100388611-100388611 G>A	0.0	2369	MELANOMA	-	-	-	-	ZAN	ENST00000538115,p.G2468R|ENST00000546292,p.G2468R|ENST00000542585,p.G2468R	protein_coding, polymorphic_pseudogene	ENST00000546292	nonsynonymous SNV	exon40	c.G7402A	p.G2468R	PSMYEGLVSGLCGNYDKNRKNDMML	PSMYEGLVSGLCRNYDKNRKNDMML	1.0	7.0	unscreened	-	2369_7:100388611-100388611 G>A_PSMYEGLVSGLCRNYDKNRKNDMML
17:38938687-38938687 G>A	0.0	2369	MELANOMA	-	-	-	-	KRT27	NM_181537,p.S20F|ENST00000301656,p.S20F|uc002hvg.3,p.S20F	protein_coding, processed_transcript	uc002hvg.3	nonsynonymous SNV	exon1	c.C59T	p.S20F	TSRRLGSCGGTGSVRLSSGGAGFGA	TSRRLGSCGGTGFVRLSSGGAGFGA	3.0	5.0	unscreened	-	2369_17:38938687-38938687 G>A_TSRRLGSCGGTGFVRLSSGGAGFGA
12:95604174-95604174 T>C	0.0	2369	MELANOMA	-	-	-	-	FGD6	uc001tdp.4,p.K296E|ENST00000549499,p.K296E|ENST00000546711,p.K296E|ENST00000343958,p.K296E|NM_018351,p.K296E	protein_coding, processed_transcript, nonsense_mediated_decay	uc001tdp.4	nonsynonymous SNV	exon2	c.A886G	p.K296E	ISSDGVSKKSEVKDLGPLEIHLVPY	ISSDGVSKKSEVEDLGPLEIHLVPY	4.0	3.0	unscreened	-	2369_12:95604174-95604174 T>C_ISSDGVSKKSEVEDLGPLEIHLVPY
17:47118807-47118807 G>A	1.0	2369	MELANOMA	-	-	-	-	IGF2BP1	ENST00000431824,p.G157R|ENST00000290341,p.G296R|uc002iom.3,p.G296R|NM_006546,p.G296R|uc010dbj.3,p.G157R|NM_001160423,p.G157R	retained_intron, protein_coding, processed_transcript	uc010dbj.3	nonsynonymous SNV	exon6	c.G469A	p.G157R	HNNFVGRLIGKEGRNLKKVEQDTET	HNNFVGRLIGKERRNLKKVEQDTET	5.0	3.0	-	-	2369_17:47118807-47118807 G>A_HNNFVGRLIGKERRNLKKVEQDTET
3:123419706-123419706 C>T	1.0	2369	MELANOMA	-	-	-	-	MYLK	uc003egs.3,p.R694Q|NM_053028,p.R801Q|NM_053026,p.R801Q|ENST00000475616,p.R870Q|uc003egp.3,p.R801Q|uc003ego.3,p.R870Q|uc003egq.3,p.R870Q|NM_053025,p.R870Q|ENST00000360772,p.R870Q|uc003egt.3,p.R61Q|uc011bjw.2,p.R870Q|NM_053027,p.R870Q|uc003egr.3,p.R801Q|ENST00000360304,p.R870Q|ENST00000346322,p.R801Q|ENST00000359169,p.R870Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bjw.2	nonsynonymous SNV	exon15	c.G2609A	p.R870Q	QGWLEEEDGEDVRGVLKRRVETRQH	QGWLEEEDGEDVQGVLKRRVETRQH	5.0	7.0	-	-	2369_3:123419706-123419706 C>T_QGWLEEEDGEDVQGVLKRRVETRQH
3:164905756-164905756 C>T	0.0	2369	MELANOMA	-	-	-	-	SLITRK3	uc021xgy.1,p.E955K|uc003fek.3,p.E955K|NM_014926,p.E955K|ENST00000475390,p.E955K|ENST00000241274,p.E955K|uc003fej.4,p.E955K	protein_coding	uc021xgy.1	nonsynonymous SNV	exon1	c.G2863A	p.E955K	FTDHQTQKSDYLELRAKLQTKPDYL	FTDHQTQKSDYLKLRAKLQTKPDYL	1.0	6.0	unscreened	-	2369_3:164905756-164905756 C>T_FTDHQTQKSDYLKLRAKLQTKPDYL
2:121684999-121684999 G>A	0.0	2369	MELANOMA	-	-	-	-	GLI2	uc010yyu.1,p.G71R|ENST00000360874,p.G63R|uc002tmp.1,p.G71R|ENST00000361492,p.G71R|NM_005270,p.G71R|uc010flp.3,p.G71R|ENST00000452319,p.G71R|uc002tmw.1,p.G71R|uc002tmv.1,p.G71R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yyu.1	nonsynonymous SNV	exon3	c.G211A	p.G71R	HAPLPIDMRHQEGRYHYEPHSVHGV	HAPLPIDMRHQERRYHYEPHSVHGV	2.0	3.0	unscreened	-	2369_2:121684999-121684999 G>A_HAPLPIDMRHQERRYHYEPHSVHGV
15:51993402-51993402 G>A	0.0	2369	MELANOMA	-	-	-	-	SCG3	ENST00000542355,p.D158N|NM_001165257,p.D158N|uc002abh.3,p.D390N|ENST00000220478,p.D390N|uc010ufz.2,p.D158N|NM_013243,p.D390N	protein_coding	uc010ufz.2	nonsynonymous SNV	exon9	c.G472A	p.D158N	KEYGSLKDSTKDDNSNPGGKTDEPK	KEYGSLKDSTKDNNSNPGGKTDEPK	2.0	8.0	unscreened	-	2369_15:51993402-51993402 G>A_KEYGSLKDSTKDNNSNPGGKTDEPK
4:88535124-88535124 G>A	0.0	2369	MELANOMA	-	-	-	-	DSPP	uc003hqu.3,p.G437E|NM_014208,p.G437E|ENST00000282478,p.G437E|ENST00000399271,p.G437E	protein_coding	uc003hqu.3	nonsynonymous SNV	exon5	c.G1310A	p.G437E	GPGQKSEPGNKVGHSNTGSDSNSDG	GPGQKSEPGNKVEHSNTGSDSNSDG	1.0	8.0	unscreened	-	2369_4:88535124-88535124 G>A_GPGQKSEPGNKVEHSNTGSDSNSDG
22:37528434-37528434 C>T	0.0	2369	MELANOMA	-	-	-	-	IL2RB	uc003aqv.1,p.G298E|ENST00000216223,p.G298E|NM_000878,p.G298E	retained_intron, protein_coding, nonsense_mediated_decay	uc003aqv.1	nonsynonymous SNV	exon9	c.G893A	p.G298E	SKFFSQLSSEHGGDVQKWLSSPFPS	SKFFSQLSSEHGEDVQKWLSSPFPS	4.0	3.0	unscreened	-	2369_22:37528434-37528434 C>T_SKFFSQLSSEHGEDVQKWLSSPFPS
8:73979646-73979646 C>T	0.0	2369	MELANOMA	-	-	-	-	SBSPON	NM_153225,p.G242E|uc003xzf.3,p.G242E|ENST00000297354,p.G242E	protein_coding, processed_transcript	uc003xzf.3	nonsynonymous SNV	exon5	c.G725A	p.G242E	LHWQAIGNPRCQGTWKKVRRVDQCS	LHWQAIGNPRCQETWKKVRRVDQCS	2.0	5.0	unscreened	-	2369_8:73979646-73979646 C>T_LHWQAIGNPRCQETWKKVRRVDQCS
6:55216353-55216353 C>T	0.0	2369	MELANOMA	-	-	-	-	GFRAL	NM_207410,p.R225C|ENST00000340465,p.R225C|uc003pcm.1,p.R225C	protein_coding	uc003pcm.1	nonsynonymous SNV	exon5	c.C673T	p.R225C	NMVPPPTCLSVIRSCQNDELCRRHY	NMVPPPTCLSVICSCQNDELCRRHY	1.0	3.0	unscreened	-	2369_6:55216353-55216353 C>T_NMVPPPTCLSVICSCQNDELCRRHY
11:1629043-1629043 T>G	0.0	2369	MELANOMA	-	-	-	-	KRTAP5-3	ENST00000399685,p.K191N|NM_001012708,p.K191N|uc001ltw.1,p.K191N	protein_coding	uc001ltw.1	nonsynonymous SNV	exon1	c.A573C	p.K191N	GCGSSCCQSSCCKPCCSQSSCCKPC	GCGSSCCQSSCCNPCCSQSSCCKPC	1.0	2.0	unscreened	-	2369_11:1629043-1629043 T>G_GCGSSCCQSSCCNPCCSQSSCCKPC
7:98449194-98449194 C>T	0.0	2369	MELANOMA	-	-	-	-	TMEM130	ENST00000546258,p.E267K|ENST00000416379,p.E286K|uc003upo.3,p.E286K|NM_001134451,p.E184K|NM_152913,p.E286K|ENST00000339375,p.E286K|ENST00000345589,p.E184K|uc011kiq.2,p.E267K|ENST00000450876,p.E202K|NM_001134450,p.E286K|uc003upn.3,p.E184K|uc011kir.2,p.E286K	protein_coding, processed_transcript	uc011kir.2	nonsynonymous SNV	exon6	c.G856A	p.E286K	CWRLKPECLPLEEGECHPVSVASTA	CWRLKPECLPLEKGECHPVSVASTA	1.0	5.0	unscreened	-	2369_7:98449194-98449194 C>T_CWRLKPECLPLEKGECHPVSVASTA
9:67968179-67968179 G>A	0.0	2369	MELANOMA	-	-	-	-	ANKRD20A1,ANKRD20A3	ENST00000377477,p.D580N|uc010mnn.3,p.D579N|NM_032250,p.D580N	protein_coding	uc010mnn.3	nonsynonymous SNV	exon15	c.G1735A	p.D579N	TETAFRYQQELNDLKAENTRLNAEL	TETAFRYQQELNNLKAENTRLNAEL	2.0	5.0	unscreened	-	2369_9:67968179-67968179 G>A_TETAFRYQQELNNLKAENTRLNAEL
17:9674813-9674813 C>T	0.0	2369	MELANOMA	-	-	-	-	DHRS7C	uc010vvb.2,p.E311K|ENST00000571134,p.E310K|NM_001220493,p.E311K|ENST00000330255,p.E311K|uc010cof.3,p.E310K|ENST00000571771,p.E131K|NM_001105571,p.E310K	protein_coding	uc010vvb.2	nonsynonymous SNV	exon6	c.G931A	p.E311K	ACGVKEKLNVPEEG	ACGVKEKLNVPEKG	1.0	8.0	unscreened	-	2369_17:9674813-9674813 C>T_ACGVKEKLNVPEKG
2:185798354-185798354 G>A	0.0	2369	MELANOMA	-	-	-	-	ZNF804A	uc002uph.3,p.E94K|ENST00000302277,p.E94K|NM_194250,p.E94K	protein_coding	uc002uph.3	nonsynonymous SNV	exon3	c.G280A	p.E94K	AHKQRLKELKQREFARNVASKSRKD	AHKQRLKELKQRKFARNVASKSRKD	1.0	4.0	unscreened	-	2369_2:185798354-185798354 G>A_AHKQRLKELKQRKFARNVASKSRKD
20:40911144-40911144 G>A	0.0	2369	MELANOMA	-	-	ID=COSM3405085,COSM2156344;OCCURENCE=2(central_nervous_system)	1	PTPRT	ENST00000373187,p.R721C|ENST00000373201,p.R721C|ENST00000373193,p.R721C|ENST00000373184,p.R721C|ENST00000373190,p.R721C|NM_007050,p.R721C|uc002xkg.3,p.R721C	protein_coding, processed_transcript	uc002xkg.3	nonsynonymous SNV	exon13	c.C2161T	p.R721C	SKANGETKINCVRLATKGASTQNSN	SKANGETKINCVCLATKGASTQNSN	1.0	7.0	unscreened	-	2369_20:40911144-40911144 G>A_SKANGETKINCVCLATKGASTQNSN
20:40911144-40911144 G>A	0.0	2369	MELANOMA	-	-	ID=COSM3405085,COSM2156344;OCCURENCE=2(central_nervous_system)	1	PTPRT	NM_133170,p.R721C|uc010ggj.3,p.R721C|ENST00000373198,p.R721C|ENST00000356100,p.R721C	protein_coding, processed_transcript	uc010ggj.3	nonsynonymous SNV	exon13	c.C2161T	p.R721C	SKANGETKINCVRLATKAPMGSAQV	SKANGETKINCVCLATKAPMGSAQV	1.0	7.0	unscreened	-	2369_20:40911144-40911144 G>A_SKANGETKINCVCLATKAPMGSAQV
19:30936558-30936558 G>A	1.0	2369	MELANOMA	-	-	-	-	ZNF536	ENST00000585628,p.E697K|uc010edd.1,p.E697K|ENST00000355537,p.E697K|uc002nsu.1,p.E697K|NM_014717,p.E697K	protein_coding, processed_transcript	uc010edd.1	nonsynonymous SNV	exon2	c.G2089A	p.E697K	RSTTPGSSNVTEESGVGGGLSQTGS	RSTTPGSSNVTEKSGVGGGLSQTGS	6.0	4.0	-	-	2369_19:30936558-30936558 G>A_RSTTPGSSNVTEKSGVGGGLSQTGS
17:4994862-4994862 T>A	0.0	2369	MELANOMA	-	-	-	-	ZFP3	NM_153018,p.H21Q|uc021tog.1,p.H21Q|ENST00000318833,p.H21Q|uc002gaq.3,p.H21Q	protein_coding	uc021tog.1	nonsynonymous SNV	exon1	c.T63A	p.H21Q	IPKEEISEESEPHGSLLEKFPKVVY	IPKEEISEESEPQGSLLEKFPKVVY	1.0	4.0	unscreened	-	2369_17:4994862-4994862 T>A_IPKEEISEESEPQGSLLEKFPKVVY
17:39346595-39346595 ->GCTGTGGGTCCAGCTGCTGCCAGCCTA	0.0	2369	MELANOMA	-	-	-	-	KRTAP9-1	NM_001190460,p.C153delinsCCGSSCCQPS|ENST00000398470,p.C153delinsCCGSSCCQPS|ENST00000318329,p.C70delinsCCGSSCCQPS|uc021txf.1,p.C153delinsCCGSSCCQPS	protein_coding	uc021txf.1	nonframeshift insertion	exon1	c.457_458insGCTGTGGGTCCAGCTGCTGCCAGCCTA	p.C153delinsCCGSSCCQPS	PTCCRNTSCQPTCCGSSCCQPCCHP	PTCCRNTSCQPTCCGSSCCQPSCGS	1.0	2.0	unscreened	-	2369_17:39346595-39346595 ->GCTGTGGGTCCAGCTGCTGCCAGCCTA_PTCCRNTSCQPTCCGSSCCQPSCGS
20:42355106-42355106 G>A	0.0	2369	MELANOMA	-	-	-	-	GTSF1L	NM_001008901,p.P77S|uc002xlc.3,p.P77S|NM_176791,p.P77S|ENST00000373005,p.P77S|ENST00000373003,p.P77S|uc002xld.3,p.P77S	protein_coding	uc002xld.3	nonsynonymous SNV	exon1	c.C229T	p.P77S	NRSAVEEEDTENPLKVSPPSSEQND	NRSAVEEEDTENSLKVSPPSSEQND	1.0	5.0	unscreened	-	2369_20:42355106-42355106 G>A_NRSAVEEEDTENSLKVSPPSSEQND
1:196706644-196706644 G>A	0.0	2369	MELANOMA	-	-	-	-	CFH	NM_000186,p.G879E|ENST00000367429,p.G879E|uc001gtj.4,p.G879E	retained_intron, protein_coding, ambiguous_orf	uc001gtj.4	nonsynonymous SNV	exon17	c.G2636A	p.G879E	KIPCSQPPQIEHGTINSSRSSQESY	KIPCSQPPQIEHETINSSRSSQESY	1.0	6.0	unscreened	-	2369_1:196706644-196706644 G>A_KIPCSQPPQIEHETINSSRSSQESY
12:113538472-113538472 C>T	0.0	2369	MELANOMA	-	-	-	-	RASAL1	ENST00000261729,p.E746K|ENST00000546530,p.E748K|uc010syp.2,p.E747K|NM_004658,p.E746K|NM_001193520,p.E748K|uc001tul.3,p.E718K|uc001tun.2,p.E748K|NM_001193521,p.E718K|uc001tum.2,p.E746K|NM_001301202,p.E747K|ENST00000548055,p.E747K|ENST00000446861,p.E718K	retained_intron, protein_coding, processed_transcript	uc010syp.2	nonsynonymous SNV	exon20	c.G2239A	p.E747K	LLGRDQLRLKLLEDSNMDTTLEADT	LLGRDQLRLKLLKDSNMDTTLEADT	4.0	3.0	unscreened	-	2369_12:113538472-113538472 C>T_LLGRDQLRLKLLKDSNMDTTLEADT
2:33783941-33783941 G>A	0.0	2369	MELANOMA	-	-	-	-	RASGRP3	ENST00000407811,p.M635I|NM_001139488,p.M636I|ENST00000403687,p.M636I|NM_015376,p.M635I|NM_170672,p.M636I|ENST00000402538,p.M636I|uc010ync.2,p.M636I|uc002roy.3,p.M635I|uc002rox.3,p.M636I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ync.2	nonsynonymous SNV	exon17	c.G1908A	p.M636I	GWGDSGSHTFPKMKSKFHDKAAKDK	GWGDSGSHTFPKIKSKFHDKAAKDK	5.0	4.0	unscreened	-	2369_2:33783941-33783941 G>A_GWGDSGSHTFPKIKSKFHDKAAKDK
7:92760754-92760754 C>T	0.0	2369	MELANOMA	-	-	-	-	SAMD9L	uc003umj.1,p.D1511N|NM_152703,p.D1511N|uc003umi.1,p.D1511N|uc003umh.1,p.D1511N|ENST00000318238,p.D1511N|uc003umk.1,p.D1511N|uc010lfc.1,p.D1511N|uc010lfd.1,p.D1511N|uc022ahh.1,p.D1511N|ENST00000437805,p.D1511N|ENST00000411955,p.D1511N|uc010lfb.1,p.D1511N	protein_coding, processed_transcript	uc022ahh.1	nonsynonymous SNV	exon1	c.G4531A	p.D1511N	KAQNTNSLWHSGDVWKKNEVKDLLR	KAQNTNSLWHSGNVWKKNEVKDLLR	4.0	7.0	unscreened	-	2369_7:92760754-92760754 C>T_KAQNTNSLWHSGNVWKKNEVKDLLR
14:23901077-23901077 C>T	0.0	2369	MELANOMA	-	-	ID=COSM1128285;OCCURENCE=1(prostate)	-	MYH7	ENST00000355349,p.G178R|NM_000257,p.G178R|uc001wjx.3,p.G178R	protein_coding	uc001wjx.3	nonsynonymous SNV	exon7	c.G532A	p.G178R	LTDRENQSILITGESGAGKTVNTKR	LTDRENQSILITRESGAGKTVNTKR	1.0	5.0	unscreened	-	2369_14:23901077-23901077 C>T_LTDRENQSILITRESGAGKTVNTKR
5:13762932-13762932 C>T	0.0	2369	MELANOMA	-	-	ID=COSM1061293;OCCURENCE=1(breast),1(skin),2(endometrium)	-	DNAH5	ENST00000265104,p.E3394K|uc003jfd.2,p.E3394K|NM_001369,p.E3394K	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon60	c.G10180A	p.E3394K	LSPYFEMPDYNIETAKRVCGNVAGL	LSPYFEMPDYNIKTAKRVCGNVAGL	2.0	6.0	unscreened	-	2369_5:13762932-13762932 C>T_LSPYFEMPDYNIKTAKRVCGNVAGL
4:164621984-164621984 C>T	0.0	2369	MELANOMA	0.0005	-	-	-	MARCH1	ENST00000274056,p.R48Q|ENST00000514618,p.R48Q|ENST00000503008,p.R48Q|ENST00000507270,p.R48Q|NM_001166373,p.R48Q|uc003iqs.2,p.R48Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003iqs.2	nonsynonymous SNV	exon4	c.G143A	p.R48Q	TLNEKSPGRSASRSSNISKASSPTT	TLNEKSPGRSASQSSNISKASSPTT	4.0	7.0	-	-	2369_4:164621984-164621984 C>T_TLNEKSPGRSASQSSNISKASSPTT
18:30913294-30913294 T>A	0.0	2369	MELANOMA	-	-	-	-	CCDC178	uc010xbr.1,p.Q241H|ENST00000406524,p.Q241H|ENST00000579947,p.Q241H|ENST00000403303,p.Q241H|uc002kxn.2,p.Q241H|ENST00000402325,p.Q241H|ENST00000383096,p.Q241H|uc002kxo.2,p.Q241H|ENST00000583930,p.Q241H|ENST00000399177,p.Q241H|ENST00000300227,p.Q241H|NM_198995,p.Q241H|uc002kxp.3,p.Q241H|NM_001105528,p.Q241H	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc010xbr.1	nonsynonymous SNV	exon9	c.A723T	p.Q241H	IELQWHLEDKANQLQHFEKQKTELE	IELQWHLEDKANHLQHFEKQKTELE	1.0	7.0	unscreened	-	2369_18:30913294-30913294 T>A_IELQWHLEDKANHLQHFEKQKTELE
8:69005933-69005933 G>A	0.0	2369	MELANOMA	-	-	-	1	PREX2	uc003xxu.1,p.D782N|NM_025170,p.D782N|uc003xxv.1,p.D782N|NM_024870,p.D782N|uc011lez.1,p.D717N|ENST00000288368,p.D782N	protein_coding, processed_transcript	uc011lez.1	nonsynonymous SNV	exon19	c.G2149A	p.D717N	KSHSKPPGDEAGDAFDCKVEEVIDK	KSHSKPPGDEAGNAFDCKVEEVIDK	1.0	6.0	unscreened	-	2369_8:69005933-69005933 G>A_KSHSKPPGDEAGNAFDCKVEEVIDK
8:69046410-69046410 G>A	0.0	2369	MELANOMA	-	-	ID=COSM3650515;OCCURENCE=1(upper_aerodigestive_tract)	1	PREX2	uc003xxv.1,p.E1295K|NM_024870,p.E1295K|ENST00000288368,p.E1295K	protein_coding, processed_transcript	uc003xxv.1	nonsynonymous SNV	exon32	c.G3883A	p.E1295K	MAALNQMFDNSKENEMETWEASRRW	MAALNQMFDNSKKNEMETWEASRRW	1.0	6.0	unscreened	-	2369_8:69046410-69046410 G>A_MAALNQMFDNSKKNEMETWEASRRW
3:38793981-38793981 C>T	0.0	2369	MELANOMA	-	-	-	-	SCN10A	NM_001293306,p.G495E|NM_006514,p.G495E|ENST00000449082,p.G495E|uc003ciq.3,p.G495E	protein_coding	uc003ciq.3	nonsynonymous SNV	exon11	c.G1484A	p.G495E	NQRRMSFLGLASGKRRASHGSVFHF	NQRRMSFLGLASEKRRASHGSVFHF	1.0	7.0	unscreened	-	2369_3:38793981-38793981 C>T_NQRRMSFLGLASEKRRASHGSVFHF
19:36831881-36831881 G>A	0.0	2369	MELANOMA	-	-	-	-	ZFP14	uc010eex.2,p.P283S|NM_001297619,p.P284S|NM_020917,p.P283S|ENST00000270001,p.P283S|uc010xtd.2,p.P284S	protein_coding	uc010xtd.2	nonsynonymous SNV	exon4	c.C850T	p.P284S	LARHQRIHTGEKPYECKDCGKTFRQ	LARHQRIHTGEKSYECKDCGKTFRQ	6.0	4.0	unscreened	-	2369_19:36831881-36831881 G>A_LARHQRIHTGEKSYECKDCGKTFRQ
3:111312513-111312513 C>T	0.0	2369	MELANOMA	-	-	ID=COSM286616;OCCURENCE=1(endometrium),1(large_intestine)	-	ZBED2	uc021xci.1,p.R179Q|ENST00000317012,p.R179Q|NM_024508,p.R179Q|uc003dxy.3,p.R179Q	protein_coding	uc021xci.1	nonsynonymous SNV	exon1	c.G536A	p.R179Q	VEWRERAVEKRERALEEVERAILEM	VEWRERAVEKREQALEEVERAILEM	1.0	6.0	unscreened	-	2369_3:111312513-111312513 C>T_VEWRERAVEKREQALEEVERAILEM
7:18633553-18633553 G>A	0.0	2369	MELANOMA	-	-	-	-	HDAC9	uc003sud.2,p.D186N|ENST00000428307,p.D186N|NM_001204144,p.D228N|ENST00000401921,p.D189N|ENST00000405010,p.D186N|NM_014707,p.D186N|uc011jyd.2,p.D186N|uc011jya.2,p.D228N|uc003suh.3,p.D186N|ENST00000441542,p.D189N|ENST00000406451,p.D186N|NM_001204145,p.D186N|NM_001204146,p.D189N|uc003sue.3,p.D186N|NM_001204148,p.D158N|uc011jyc.2,p.D189N|uc003suj.3,p.D189N|ENST00000406072,p.D217N|uc011jye.2,p.D158N|ENST00000432645,p.D186N|ENST00000417496,p.D228N|uc003sui.3,p.D189N|uc011jyb.2,p.D186N|uc003sua.1,p.D208N|uc003suf.2,p.D217N|NM_178425,p.D189N|ENST00000456174,p.D158N|uc010kud.2,p.D189N|NM_058176,p.D186N|NM_178423,p.D186N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011jye.2	nonsynonymous SNV	exon5	c.G472A	p.D158N	KLWYTAAHHTSLDQSSPPLSGTSPS	KLWYTAAHHTSLNQSSPPLSGTSPS	5.0	5.0	unscreened	-	2369_7:18633553-18633553 G>A_KLWYTAAHHTSLNQSSPPLSGTSPS
7:18633553-18633553 G>A	0.0	2369	MELANOMA	-	-	-	-	HDAC9	NM_001204147,p.D153N|ENST00000524023,p.D153N|uc011jyf.2,p.D153N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011jyf.2	nonsynonymous SNV	exon5	c.G457A	p.D153N	HPKLWAAHHTSLDQSSPPLSGTSPS	HPKLWAAHHTSLNQSSPPLSGTSPS	5.0	5.0	unscreened	-	2369_7:18633553-18633553 G>A_HPKLWAAHHTSLNQSSPPLSGTSPS
3:111296356-111296356 G>A	0.0	2369	MELANOMA	-	-	-	-	CD96	NM_198196,p.S184N|uc003dxw.3,p.S184N|ENST00000283285,p.S184N	protein_coding, nonsense_mediated_decay	uc003dxw.3	nonsynonymous SNV	exon4	c.G551A	p.S184N	SSEFTYAWSVENSSTDSWVLLSKGI	SSEFTYAWSVENNSTDSWVLLSKGI	5.0	6.0	unscreened	-	2369_3:111296356-111296356 G>A_SSEFTYAWSVENNSTDSWVLLSKGI
10:62021631-62021631 C>T	0.0	2369	MELANOMA	-	-	-	-	ANK3	uc001jky.3,p.D262N|ENST00000503925,p.D236N|ENST00000373827,p.D256N|ENST00000280772,p.D262N|NM_001204404,p.D245N|uc001jkz.4,p.D256N|uc010qih.2,p.D245N|ENST00000503366,p.D245N|NM_001204403,p.D256N|NM_020987,p.D262N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qih.2	nonsynonymous SNV	exon7	c.G733A	p.D245N	VATLLLNRAAAVDFTARNDITPLHV	VATLLLNRAAAVNFTARNDITPLHV	1.0	4.0	unscreened	-	2369_10:62021631-62021631 C>T_VATLLLNRAAAVNFTARNDITPLHV
13:78178492-78178492 A>G	0.0	2369	MELANOMA	-	-	-	-	SCEL	NM_144777,p.K367E|NM_003843,p.K347E|ENST00000377246,p.K347E|ENST00000349847,p.K367E|uc001vki.3,p.K367E|uc001vkj.3,p.K347E	protein_coding, processed_transcript, nonsense_mediated_decay	uc001vkj.3	nonsynonymous SNV	exon18	c.A1039G	p.K347E	EVNPKGHENTTGKKDLDGLIKVDPE	EVNPKGHENTTGEKDLDGLIKVDPE	1.0	7.0	unscreened	-	2369_13:78178492-78178492 A>G_EVNPKGHENTTGEKDLDGLIKVDPE
9:121930264-121930264 C>T	0.0	2369	MELANOMA	-	-	-	-	BRINP1	ENST00000265922,p.E462K|uc004bkc.2,p.E462K|NM_014618,p.E462K	protein_coding, processed_transcript	uc004bkc.2	nonsynonymous SNV	exon8	c.G1384A	p.E462K	CNKGYKLYRGRCEPQNVDSERSEQF	CNKGYKLYRGRCKPQNVDSERSEQF	2.0	7.0	unscreened	-	2369_9:121930264-121930264 C>T_CNKGYKLYRGRCKPQNVDSERSEQF
1:213009448-213009448 C>T	0.0	2369	MELANOMA	-	-	-	-	SPATA45	ENST00000332912,p.G15E|NM_001024601,p.G15E|uc001hjq.3,p.G15E	protein_coding	uc001hjq.3	nonsynonymous SNV	exon2	c.G44A	p.G15E	SINRTIEIMKKHGVSKQHLLEEINK	SINRTIEIMKKHEVSKQHLLEEINK	2.0	7.0	unscreened	-	2369_1:213009448-213009448 C>T_SINRTIEIMKKHEVSKQHLLEEINK
1:182869170-182869170 T>G	0.0	2369	MELANOMA	-	-	ID=COSM900732;OCCURENCE=1(endometrium)	-	SHCBP1L	uc001gpw.3,p.N357T|ENST00000423786,p.N518T|uc010pnz.2,p.N495T|uc001gpu.3,p.N637T|NM_030933,p.N637T|uc001gpv.3,p.N518T|ENST00000367547,p.N637T	protein_coding, processed_transcript	uc010pnz.2	nonsynonymous SNV	exon10	c.A1484C	p.N495T	FKVMQNLNLEMNNNKIEANVKGDIR	FKVMQNLNLEMNTNKIEANVKGDIR	1.0	6.0	unscreened	-	2369_1:182869170-182869170 T>G_FKVMQNLNLEMNTNKIEANVKGDIR
8:101206455-101206455 G>A	0.0	2369	MELANOMA	-	-	-	-	SPAG1	uc003yjh.2,p.G352E|NM_172218,p.G352E|ENST00000251809,p.G352E|NM_003114,p.G352E|uc003yjg.1,p.G352E|ENST00000520508,p.G352E|uc003yji.2,p.G352E|ENST00000388798,p.G352E|ENST00000520643,p.G352E	retained_intron, protein_coding, processed_transcript	uc003yji.2	nonsynonymous SNV	exon10	c.G1055A	p.G352E	VIQEIENSEDEEGKSGRKHEDGGGD	VIQEIENSEDEEEKSGRKHEDGGGD	7.0	6.0	-	-	2369_8:101206455-101206455 G>A_VIQEIENSEDEEEKSGRKHEDGGGD
8:63502333-63502333 G>A	0.0	2369	MELANOMA	-	-	-	-	NKAIN3	ENST00000328472,p.E85K|NM_173688,p.E85K|ENST00000523211,p.E85K|uc010lyq.1,p.E85K	protein_coding, processed_transcript	uc010lyq.1	nonsynonymous SNV	exon3	c.G253A	p.E85K	VTWNVFIICFYLEVGGLSKDTDLMT	VTWNVFIICFYLKVGGLSKDTDLMT	1.0	5.0	unscreened	-	2369_8:63502333-63502333 G>A_VTWNVFIICFYLKVGGLSKDTDLMT
1:197446941-197446941 G>A	0.0	2369	MELANOMA	-	-	-	-	CRB1	NM_001257965,p.E1361K|NM_001193640,p.E1273K|uc010ppb.2,p.E849K|uc009wza.3,p.E1273K|uc001gtz.3,p.E1385K|NM_001257966,p.E849K|uc010ppd.2,p.E866K|uc010poz.2,p.E1361K|ENST00000367399,p.E1273K|ENST00000538660,p.E849K|ENST00000535699,p.E1361K|NM_201253,p.E1385K|ENST00000544212,p.E866K|ENST00000367400,p.E1385K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ppd.2	nonsynonymous SNV	exon8	c.G2596A	p.E866K	RATQGTYSPSRQEKEGSRVEMWNLM	RATQGTYSPSRQKKEGSRVEMWNLM	1.0	6.0	unscreened	-	2369_1:197446941-197446941 G>A_RATQGTYSPSRQKKEGSRVEMWNLM
5:13753569-13753569 C>T	0.0	2369	MELANOMA	-	-	ID=COSM1685961;OCCURENCE=2(skin)	-	DNAH5	ENST00000265104,p.E3549K|NM_001369,p.E3549K|uc003jfd.2,p.E3549K	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon63	c.G10645A	p.E3549K	EFRDLLLNDWRKEMKARKIPFGKNL	EFRDLLLNDWRKKMKARKIPFGKNL	2.0	6.0	unscreened	-	2369_5:13753569-13753569 C>T_EFRDLLLNDWRKKMKARKIPFGKNL
9:113192706-113192706 C>T	0.0	2369	MELANOMA	-	-	-	-	SVEP1	NM_153366,p.G1793E|ENST00000401783,p.G1793E|ENST00000374469,p.G1770E|uc010mtz.3,p.G1793E	protein_coding, processed_transcript	uc010mtz.3	nonsynonymous SNV	exon33	c.G5378A	p.G1793E	KNCAEPIKCKAPGNPENGHSSGEIY	KNCAEPIKCKAPENPENGHSSGEIY	1.0	7.0	unscreened	-	2369_9:113192706-113192706 C>T_KNCAEPIKCKAPENPENGHSSGEIY
9:37740620-37740620 T>C	0.0	2369	MELANOMA	-	-	-	-	FRMPD1	NM_014907,p.Y699H|ENST00000377765,p.Y699H|uc011lqm.2,p.Y521H|ENST00000539465,p.Y699H|uc004aag.1,p.Y699H|ENST00000536622,p.Y521H|uc011lqn.2,p.Y568H|ENST00000541302,p.Y568H|uc004aah.1,p.Y699H	protein_coding	uc011lqn.2	nonsynonymous SNV	exon11	c.T1702C	p.Y568H	PELSTVRLDPRLYEGSHADYYSLCS	PELSTVRLDPRLHEGSHADYYSLCS	2.0	4.0	unscreened	-	2369_9:37740620-37740620 T>C_PELSTVRLDPRLHEGSHADYYSLCS
1:62734002-62734002 C>T	0.0	2369	MELANOMA	-	-	-	-	KANK4	ENST00000371153,p.E730K|uc001dai.4,p.E102K|ENST00000354381,p.E102K|NM_181712,p.E730K|ENST00000371150,p.E86K|uc001dah.4,p.E730K|uc001dag.4,p.E86K	protein_coding	uc001dai.4	nonsynonymous SNV	exon4	c.G304A	p.E102K	QGIPEGTCHAAQESGPGEEVPHSKA	QGIPEGTCHAAQKSGPGEEVPHSKA	1.0	4.0	unscreened	-	2369_1:62734002-62734002 C>T_QGIPEGTCHAAQKSGPGEEVPHSKA
1:182443237-182443237 G>A	0.0	2369	MELANOMA	-	-	-	-	RGSL1	uc009wxw.3,p.E331K|NM_001137669,p.E331K|ENST00000443996,p.E366K|ENST00000294854,p.E331K|uc021pfx.1,p.E366K|ENST00000542961,p.E366K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pfx.1	nonsynonymous SNV	exon7	c.G1096A	p.E366K	SMENKAKSHLHMEAPFETKVSTHLR	SMENKAKSHLHMKAPFETKVSTHLR	1.0	6.0	unscreened	-	2369_1:182443237-182443237 G>A_SMENKAKSHLHMKAPFETKVSTHLR
X:140785633-140785633 G>A	0.0	2369	MELANOMA	-	-	-	-	SPANXC,SPANXD	uc004fbq.3,p.P95S|NM_022661,p.P95S|ENST00000370515,p.P95S|NM_032417,p.P95S	protein_coding	uc004fbq.3	nonsynonymous SNV	exon2	c.C283T	p.P95S	EEEEFMEIMVEIPAK	EEEEFMEIMVEISAK	1.0	7.0	unscreened	-	2369_X:140785633-140785633 G>A_EEEEFMEIMVEISAK
1:153587384-153587384 C>T	0.0	2369	MELANOMA	-	-	-	-	S100A14	uc001fce.3,p.E98K|ENST00000368701,p.E98K|ENST00000476873,p.E98K|ENST00000368702,p.E98K|ENST00000344616,p.E98K|NM_020672,p.E98K	protein_coding, processed_transcript	uc001fce.3	nonsynonymous SNV	exon4	c.G292A	p.E98K	ELIGEAAKSVKLERPVRGH	ELIGEAAKSVKLKRPVRGH	1.0	4.0	unscreened	-	2369_1:153587384-153587384 C>T_ELIGEAAKSVKLKRPVRGH
1:221057618-221057618 G>A	0.0	2369	MELANOMA	-	-	-	-	HLX	ENST00000549319,p.A133T|ENST00000366903,p.A347T|NM_021958,p.A347T|ENST00000427693,p.A80T|uc001hmv.4,p.A347T	protein_coding	uc001hmv.4	nonsynonymous SNV	exon4	c.G1039A	p.A347T	KEAQAQKDKDKEAGEKPSGGAPAAD	KEAQAQKDKDKETGEKPSGGAPAAD	4.0	7.0	unscreened	-	2369_1:221057618-221057618 G>A_KEAQAQKDKDKETGEKPSGGAPAAD
1:158323824-158323824 G>A	0.0	2369	MELANOMA	-	-	ID=COSM1718360;OCCURENCE=2(NS)	-	CD1E	ENST00000444681,p.E16K|NM_001185114,p.E16K|uc010pie.2,p.E16K|uc009wsv.3,p.E16K	protein_coding, processed_transcript	uc010pie.2	nonsynonymous SNV	exon1	c.G46A	p.E16K	LFLLFEGLCCPGENTADPFEIQILA	LFLLFEGLCCPGKNTADPFEIQILA	1.0	5.0	unscreened	-	2369_1:158323824-158323824 G>A_LFLLFEGLCCPGKNTADPFEIQILA
1:158323824-158323824 G>A	0.0	2369	MELANOMA	-	-	ID=COSM1718360;OCCURENCE=2(NS)	-	CD1E	NM_001042586,p.E16K|NM_001185113,p.E16K|uc001fsa.3,p.E16K|ENST00000368164,p.E16K|NM_001185110,p.E16K|uc001fsc.3,p.E16K|NM_001042587,p.E16K|ENST00000368166,p.E16K|ENST00000452291,p.E16K|uc001fsg.3,p.E16K|NM_001185112,p.E16K|ENST00000368157,p.E16K|uc010pig.2,p.E16K|uc031pqs.1,p.E16K|uc001fsh.3,p.E16K|ENST00000368154,p.E16K	protein_coding, processed_transcript	uc031pqs.1	nonsynonymous SNV	exon1	c.G46A	p.E16K	LFLLFEGLCCPGENTAVKPEAWLSC	LFLLFEGLCCPGKNTAVKPEAWLSC	1.0	5.0	unscreened	-	2369_1:158323824-158323824 G>A_LFLLFEGLCCPGKNTAVKPEAWLSC
2:152710029-152710029 C>T	0.0	2369	MELANOMA	-	-	-	-	CACNB4	ENST00000360283,p.G317E|NM_001145798,p.G350E|uc002txy.3,p.G316E|ENST00000539935,p.G350E|ENST00000397327,p.G303E|NM_001005746,p.G332E|ENST00000201943,p.G350E|ENST00000439467,p.G345E|uc002txz.3,p.G332E|uc002tya.3,p.G350E|ENST00000427385,p.G332E|uc010fnz.3,p.G350E|NM_000726,p.G350E|NM_001005747,p.G316E|ENST00000534999,p.G316E	retained_intron, protein_coding, processed_transcript	uc010fnz.3	nonsynonymous SNV	exon12	c.G1049A	p.G350E	SPKVLQRLIKSRGKSQSKHLNVQLV	SPKVLQRLIKSREKSQSKHLNVQLV	1.0	3.0	unscreened	-	2369_2:152710029-152710029 C>T_SPKVLQRLIKSREKSQSKHLNVQLV
6:54804913-54804913 G>A	0.0	2369	MELANOMA	-	-	-	-	FAM83B	NM_001010872,p.E382K|ENST00000306858,p.E382K|uc003pck.4,p.E382K	protein_coding	uc003pck.4	nonsynonymous SNV	exon5	c.G1144A	p.E382K	NAIRQFQPNQINENWKRHSYAGEQP	NAIRQFQPNQINKNWKRHSYAGEQP	1.0	4.0	unscreened	-	2369_6:54804913-54804913 G>A_NAIRQFQPNQINKNWKRHSYAGEQP
16:55907946-55907946 G>A	0.0	2369	MELANOMA	-	-	-	-	CES5A	uc021tir.1,p.P55L|ENST00000521992,p.P55L|NM_001190158,p.P55L	protein_coding, processed_transcript, nonsense_mediated_decay	uc021tir.1	nonsynonymous SNV	exon3	c.C164T	p.P55L	IDVLNYTSKDEGPSAEGPQRNTRLG	IDVLNYTSKDEGLSAEGPQRNTRLG	5.0	5.0	unscreened	-	2369_16:55907946-55907946 G>A_IDVLNYTSKDEGLSAEGPQRNTRLG
8:52233397-52233397 T>C	0.0	2369	MELANOMA	-	-	-	-	PXDNL	uc003xqu.4,p.R1403G|ENST00000356297,p.R1403G|NM_144651,p.R1403G	retained_intron, protein_coding, nonsense_mediated_decay	uc003xqu.4	nonsynonymous SNV	exon22	c.A4207G	p.R1403G	RQAGCTDVRGVPRKAEERWMKEDCT	RQAGCTDVRGVPGKAEERWMKEDCT	1.0	4.0	unscreened	-	2369_8:52233397-52233397 T>C_RQAGCTDVRGVPGKAEERWMKEDCT
13:28896963-28896963 C>T	0.0	2369	MELANOMA	-	-	-	-	FLT1	ENST00000282397,p.E973K|uc010aaq.2,p.E98K|NM_002019,p.E973K|uc001usa.3,p.E191K|ENST00000540678,p.E191K|uc001usb.3,p.E973K	protein_coding	uc010aaq.2	nonsynonymous SNV	exon3	c.G292A	p.E98K	TSSESFASSGFQEDKSLSDVEEEED	TSSESFASSGFQKDKSLSDVEEEED	3.0	6.0	unscreened	-	2369_13:28896963-28896963 C>T_TSSESFASSGFQKDKSLSDVEEEED
7:31855742-31855742 C>T	0.0	2369	MELANOMA	-	-	-	-	PDE1C	NM_001191058,p.E597K|ENST00000321453,p.E537K|ENST00000396182,p.E537K|ENST00000396191,p.E537K|uc003tcm.2,p.E537K|NM_001191059,p.E537K|uc003tco.2,p.E597K|NM_001191057,p.E537K|NM_005020,p.E537K|NM_001191056,p.E537K|ENST00000396193,p.E597K|ENST00000396184,p.E537K|uc003tcr.3,p.E537K|uc003tcs.3,p.E537K|uc003tcn.1,p.E537K	retained_intron, protein_coding, processed_transcript	uc003tcs.3	nonsynonymous SNV	exon16	c.G1609A	p.E537K	VPKEEKAKKEAEEKARLAAEEQQKE	VPKEEKAKKEAEKKARLAAEEQQKE	1.0	5.0	unscreened	-	2369_7:31855742-31855742 C>T_VPKEEKAKKEAEKKARLAAEEQQKE
8:53084982-53084982 C>T	0.0	2369	MELANOMA	-	-	ID=COSM422106;OCCURENCE=1(urinary_tract)	-	ST18	ENST00000521582,p.E147K|uc003xrb.2,p.E147K|ENST00000276480,p.E147K|uc003xqz.2,p.E147K|uc011ldr.1,p.E112K|uc011lds.1,p.E52K|uc003xra.2,p.E147K|ENST00000517580,p.E147K|NM_014682,p.E147K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lds.1	nonsynonymous SNV	exon5	c.G154A	p.E52K	KFEKNVSVQTVSENLNDSGIQSLKA	KFEKNVSVQTVSKNLNDSGIQSLKA	2.0	6.0	unscreened	-	2369_8:53084982-53084982 C>T_KFEKNVSVQTVSKNLNDSGIQSLKA
2:27888105-27888105 G>A	1.0	2369	MELANOMA	-	-	-	-	SLC4A1AP	uc002rlk.4,p.E322K|ENST00000427424,p.E84K|ENST00000326019,p.E322K|NM_018158,p.E322K	retained_intron, protein_coding, nonsense_mediated_decay	uc002rlk.4	nonsynonymous SNV	exon2	c.G964A	p.E322K	EDSDEEEEMDTSERKINAGSQDDEM	EDSDEEEEMDTSKRKINAGSQDDEM	8.0	5.0	-	-	2369_2:27888105-27888105 G>A_EDSDEEEEMDTSKRKINAGSQDDEM
1:158621258-158621258 C>T	0.0	2369	MELANOMA	0.0005	-	-	-	SPTA1	ENST00000368148,p.D1126N|NM_003126,p.D1126N|uc001fst.1,p.D1126N|ENST00000368147,p.D1126N	protein_coding, processed_transcript	uc001fst.1	nonsynonymous SNV	exon24	c.G3376A	p.D1126N	WELQKKFDEFQKDLNTNEPRLRDIN	WELQKKFDEFQKNLNTNEPRLRDIN	1.0	5.0	unscreened	-	2369_1:158621258-158621258 C>T_WELQKKFDEFQKNLNTNEPRLRDIN
4:166978450-166978450 G>A	0.0	2369	MELANOMA	-	-	-	-	TLL1	ENST00000061240,p.R612K|uc003irh.2,p.R612K|ENST00000507499,p.R635K|NM_012464,p.R612K|uc011cjo.2,p.R436K|uc011cjn.2,p.R635K	protein_coding, nonsense_mediated_decay	uc011cjo.2	nonsynonymous SNV	exon14	c.G1307A	p.R436K	ACEPGYELGPDRRSCEAACGGLLTK	ACEPGYELGPDRKSCEAACGGLLTK	1.0	5.0	unscreened	-	2369_4:166978450-166978450 G>A_ACEPGYELGPDRKSCEAACGGLLTK
10:15296723-15296723 T>A	0.0	2369	MELANOMA	-	-	-	-	FAM171A1	NM_001010924,p.T192S|uc001iob.3,p.T192S|ENST00000378116,p.T192S	protein_coding, processed_transcript	uc001iob.3	nonsynonymous SNV	exon4	c.A574T	p.T192S	SFPYLRGLDGNGTGNSTRHDLTPVT	SFPYLRGLDGNGSGNSTRHDLTPVT	2.0	4.0	unscreened	-	2369_10:15296723-15296723 T>A_SFPYLRGLDGNGSGNSTRHDLTPVT
4:177608480-177608480 C>T	0.0	2369	MELANOMA	-	-	-	-	VEGFC	uc003ius.1,p.E336K|ENST00000280193,p.E336K|NM_005429,p.E336K	protein_coding, processed_transcript	uc003ius.1	nonsynonymous SNV	exon6	c.G1006A	p.E336K	FPSQCGANREFDENTCQCVCKRTCP	FPSQCGANREFDKNTCQCVCKRTCP	1.0	5.0	unscreened	-	2369_4:177608480-177608480 C>T_FPSQCGANREFDKNTCQCVCKRTCP
12:10584760-10584760 G>A	0.0	2369	MELANOMA	-	-	-	-	KLRC2	ENST00000381902,p.R177C|NM_002260,p.R177C|ENST00000381901,p.R177C|uc010she.1,p.R177C|uc001qyk.2,p.R177C|ENST00000536833,p.R118C	protein_coding, nonsense_mediated_decay	uc010she.1	nonsynonymous SNV	exon5	c.C529T	p.R177C	ASILPSSWIGVFRNSSHHPWVTING	ASILPSSWIGVFCNSSHHPWVTING	2.0	4.0	unscreened	-	2369_12:10584760-10584760 G>A_ASILPSSWIGVFCNSSHHPWVTING
5:41176817-41176817 C>T	0.0	2369	MELANOMA	-	-	-	-	C6	ENST00000263413,p.D310N|NM_001115131,p.D310N|uc003jml.2,p.D310N|ENST00000337836,p.D310N|uc003jmk.3,p.D310N|NM_000065,p.D310N	retained_intron, protein_coding, processed_transcript	uc003jml.2	nonsynonymous SNV	exon8	c.G928A	p.D310N	AFKQAIQASHKKDSSFIRIHKVMKV	AFKQAIQASHKKNSSFIRIHKVMKV	1.0	5.0	unscreened	-	2369_5:41176817-41176817 C>T_AFKQAIQASHKKNSSFIRIHKVMKV
19:51914553-51914553 C>T	0.0	2369	MELANOMA	-	-	-	-	SIGLEC10	NM_001171157,p.E537K|ENST00000436984,p.E489K|uc002pwp.3,p.E574K|ENST00000439889,p.E574K|ENST00000432469,p.E454K|NM_001171159,p.E479K|ENST00000525998,p.E447K|uc010eow.3,p.E349K|uc010ycy.2,p.E447K|uc002pwr.3,p.E537K|ENST00000339313,p.E632K|ENST00000441969,p.E479K|NM_033130,p.E632K|uc002pwq.3,p.E479K|NM_001171158,p.E489K|ENST00000356298,p.E632K|uc002pws.2,p.E389K|ENST00000353836,p.E537K|uc002pwo.3,p.E632K|ENST00000442846,p.E389K|NM_001171161,p.E389K|uc010ycz.2,p.E489K|NM_001171156,p.E574K	retained_intron, protein_coding	uc010ycz.2	nonsynonymous SNV	exon10	c.G1465A	p.E489K	PRTPLPPGAPSPESKKNQKKQYQLP	PRTPLPPGAPSPKSKKNQKKQYQLP	1.0	4.0	unscreened	-	2369_19:51914553-51914553 C>T_PRTPLPPGAPSPKSKKNQKKQYQLP
1:223178965-223178965 C>T	0.0	2369	MELANOMA	-	-	-	-	DISP1	ENST00000284476,p.P1409L|uc001hnu.2,p.P1409L|NM_032890,p.P1409L	protein_coding, processed_transcript	uc001hnu.2	nonsynonymous SNV	exon10	c.C4226T	p.P1409L	RSTGSLLKTCCDPENKQRELCKNRD	RSTGSLLKTCCDLENKQRELCKNRD	5.0	6.0	unscreened	-	2369_1:223178965-223178965 C>T_RSTGSLLKTCCDLENKQRELCKNRD
8:110464999-110464999 G>A	0.0	2369	MELANOMA	-	-	-	-	PKHD1L1	NM_177531,p.G2187E|ENST00000378402,p.G2187E|uc003yne.3,p.G2187E	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon43	c.G6560A	p.G2187E	LYVDAWSSNFSWGGKSPPEEGSLVV	LYVDAWSSNFSWEGKSPPEEGSLVV	1.0	6.0	unscreened	-	2369_8:110464999-110464999 G>A_LYVDAWSSNFSWEGKSPPEEGSLVV
13:25349023-25349023 G>A	0.0	2369	MELANOMA	-	-	-	-	RNF17	NM_001184993,p.E100K|ENST00000255325,p.E100K|NM_031277,p.E100K|ENST00000255324,p.E100K|ENST00000381921,p.E100K|uc010tde.2,p.E100K|uc001upq.1,p.E100K|uc001upr.3,p.E100K|uc001ups.3,p.E39K	protein_coding, processed_transcript	uc010tde.2	nonsynonymous SNV	exon3	c.G298A	p.E100K	PMAGYIKEDSIMEKLQPKTIKNCSQ	PMAGYIKEDSIMKKLQPKTIKNCSQ	2.0	5.0	unscreened	-	2369_13:25349023-25349023 G>A_PMAGYIKEDSIMKKLQPKTIKNCSQ
19:11144855-11144855 ->GAGGAGT	0.0	2369	MELANOMA	-	-	-	1	SMARCA4	uc010dxr.3,p.E1277fs|ENST00000429416,p.E1310fs|NM_001128849,p.E1310fs|ENST00000589677,p.E1277fs|NM_003072,p.E1310fs|uc010dxq.3,p.E1277fs|uc010dxp.3,p.E1310fs|uc002mqi.1,p.E480fs|ENST00000344626,p.E1310fs|uc010dxo.3,p.E1310fs|NM_001128846,p.E1277fs|NM_001128844,p.E1310fs|ENST00000590574,p.E1277fs|ENST00000444061,p.E1277fs|uc010dxs.3,p.E1277fs|ENST00000358026,p.E1310fs|uc002mqj.4,p.E1277fs|ENST00000413806,p.E1277fs|uc002mqh.4,p.E400fs|NM_001128848,p.E1277fs|ENST00000450717,p.E1277fs|ENST00000541122,p.E1277fs|NM_001128845,p.E1277fs|uc010dxt.1,p.E497fs|NM_001128847,p.E1277fs|uc002mqf.4,p.E1310fs	retained_intron, protein_coding, processed_transcript	uc010dxt.1	frameshift insertion	exon12	c.1491_1492insGAGGAGT	p.E497fs	DDETVNQMIARHEEEFDLFMRMDLD	DDETVNQMIARHEEE	6.0	4.0	unscreened	-	2369_19:11144855-11144855 ->GAGGAGT_DDETVNQMIARHEEE
19:50753914-50753914 C>T	1.0	2556	MELANOMA	-	-	-	-	MYH14	NM_001077186,p.A600V|ENST00000599920,p.A600V|ENST00000598205,p.A600V|ENST00000596571,p.A592V|ENST00000425460,p.A600V|ENST00000376970,p.A592V|uc002prq.1,p.A600V|ENST00000440075,p.A600V|uc002prr.1,p.A592V|ENST00000262269,p.A600V|NM_024729,p.A592V|uc010enu.1,p.A600V|ENST00000601313,p.A600V|NM_001145809,p.A600V	retained_intron, protein_coding	uc010enu.1	nonsynonymous SNV	exon15	c.C1799T	p.A600V	PKFQRPRHLRDQADFSVLHYAGKVD	PKFQRPRHLRDQVDFSVLHYAGKVD	7.0	7.0	CD8	-	2556_19:50753914-50753914 C>T_PKFQRPRHLRDQVDFSVLHYAGKVD
7:6426892-6426892 C>T	1.0	2556	MELANOMA	-	-	ID=COSM1167878,COSM125734;OCCURENCE=3(NS),1(upper_aerodigestive_tract),1(breast),38(skin),1(endometrium)	1	RAC1	uc003spw.3,p.P29S|uc003spx.3,p.P29S|NM_018890,p.P29S|ENST00000348035,p.P29S|ENST00000356142,p.P29S|NM_006908,p.P29S	retained_intron, protein_coding, processed_transcript	uc003spx.3	nonsynonymous SNV	exon2	c.C85T	p.P29S	TCLLISYTTNAFPGEYIPTVFDNYS	TCLLISYTTNAFSGEYIPTVFDNYS	10.0	9.0	CD8	-	2556_7:6426892-6426892 C>T_TCLLISYTTNAFSGEYIPTVFDNYS
7:91715653-91715653 C>T	1.0	2556	MELANOMA	-	-	-	2	AKAP9	ENST00000356239,p.R3046W|NM_147185,p.R3038W|uc003ulk.3,p.R321W|uc003uli.3,p.R2669W|ENST00000394534,p.R892W|uc003ulf.3,p.R3038W|NM_005751,p.R3046W|ENST00000359028,p.R3050W|uc003ulg.3,p.R3046W|uc003ulj.3,p.R816W|ENST00000358100,p.R2996W	retained_intron, protein_coding, processed_transcript	uc003ulk.3	nonsynonymous SNV	exon5	c.C961T	p.R321W	FLEERSVLLAAFRTELTALGTTDAV	FLEERSVLLAAFWTELTALGTTDAV	10.0	10.0	-	-	2556_7:91715653-91715653 C>T_FLEERSVLLAAFWTELTALGTTDAV
19:14674821-14674821 C>T	1.0	2556	MELANOMA	-	-	-	-	TECR	ENST00000598333,p.P87L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000598333	nonsynonymous SNV	exon6	c.C260T	p.P87L	LGDGLPNRVRGAPFHLPALLLPSAL	LGDGLPNRVRGALFHLPALLLPSAL	9.0	8.0	unscreened	-	2556_19:14674821-14674821 C>T_LGDGLPNRVRGALFHLPALLLPSAL
2:220471444-220471444 C>T	1.0	2556	MELANOMA	-	-	-	-	STK11IP	NM_052902,p.S344F|ENST00000456909,p.S333F|uc002vml.3,p.S344F|ENST00000295641,p.S344F|uc010zll.2,p.S301F|uc002vmm.1,p.S333F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zll.2	nonsynonymous SNV	exon11	c.C902T	p.S301F	KVLSLTDFQTHTSLGLSPMGPPLPW	KVLSLTDFQTHTFLGLSPMGPPLPW	7.0	7.0	-	-	2556_2:220471444-220471444 C>T_KVLSLTDFQTHTFLGLSPMGPPLPW
13:21563290-21563290 G>A	1.0	2556	MELANOMA	-	-	-	-	LATS2	uc001unr.4,p.P210L|ENST00000382592,p.P210L|ENST00000542899,p.P210L|uc009zzs.3,p.P210L|NM_014572,p.P210L	protein_coding, processed_transcript	uc009zzs.3	nonsynonymous SNV	exon4	c.C629T	p.P210L	ADGPTALEEMPRPYVDYLFPGVGPH	ADGPTALEEMPRLYVDYLFPGVGPH	9.0	5.0	-	-	2556_13:21563290-21563290 G>A_ADGPTALEEMPRLYVDYLFPGVGPH
19:54970003-54970003 C>T	1.0	2556	MELANOMA	0.01	-	-	-	LENG8	ENST00000431846,p.P848L|uc002qfv.1,p.P811L|ENST00000376526,p.P811L	retained_intron, protein_coding	uc002qfv.1	nonsynonymous SNV	exon14	c.C2432T	p.P811L	LCVSSSCSLLPGPPSSLLALGFLRT	LCVSSSCSLLPGLPSSLLALGFLRT	9.0	9.0	-	-	2556_19:54970003-54970003 C>T_LCVSSSCSLLPGLPSSLLALGFLRT
8:124267295-124267295 G>A	1.0	2556	MELANOMA	-	-	-	-	ZHX1	ENST00000297857,p.L298F|uc022bak.1,p.L298F|ENST00000522655,p.L298F|uc003yqe.3,p.L298F|ENST00000395571,p.L298F|uc010mdi.3,p.L298F|NM_001017926,p.L298F|uc003yqf.3,p.L298F|NM_007222,p.L298F	protein_coding, processed_transcript	uc022bak.1	nonsynonymous SNV	exon1	c.C892T	p.L298F	IPTYNAALDNNPLLLNTYNKFPYPT	IPTYNAALDNNPFLLNTYNKFPYPT	8.0	7.0	-	-	2556_8:124267295-124267295 G>A_IPTYNAALDNNPFLLNTYNKFPYPT
3:173996843-173996843 G>A	1.0	2556	MELANOMA	-	-	-	-	NLGN1	uc003fio.1,p.R351Q|uc010hww.1,p.R391Q|ENST00000545397,p.R351Q|ENST00000457714,p.R351Q|ENST00000401917,p.R391Q|ENST00000361589,p.R351Q|uc003fip.1,p.R351Q|NM_014932,p.R351Q|uc021xhm.1,p.R391Q	protein_coding, processed_transcript	uc021xhm.1	nonsynonymous SNV	exon6	c.G1172A	p.R391Q	YKELVDQDIQPARYHIAFGPVIDGD	YKELVDQDIQPAQYHIAFGPVIDGD	9.0	2.0	-	-	2556_3:173996843-173996843 G>A_YKELVDQDIQPAQYHIAFGPVIDGD
19:14674821-14674821 C>T	1.0	2556	MELANOMA	-	-	-	-	TECR	NM_138501,p.L99F|uc002mza.3,p.L99F|ENST00000598715,p.L111F|ENST00000215567,p.L99F|ENST00000436007,p.L114F|uc002mzb.3,p.L114F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mzb.3	nonsynonymous SNV	exon7	c.C340T	p.L114F	WVTVFLTEYAGPLFIYLLFYFRVPF	WVTVFLTEYAGPFFIYLLFYFRVPF	9.0	8.0	-	-	2556_19:14674821-14674821 C>T_WVTVFLTEYAGPFFIYLLFYFRVPF
2:73450185-73450185 C>T	1.0	2556	MELANOMA	-	-	-	-	SMYD5	uc010yre.1,p.R127W|uc002siw.2,p.R243W|NM_006062,p.R243W|ENST00000389501,p.R243W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yre.1	nonsynonymous SNV	exon8	c.C379T	p.R127W	EAVSQWFTPDGFRSLFALVGTNGQG	EAVSQWFTPDGFWSLFALVGTNGQG	7.0	6.0	-	-	2556_2:73450185-73450185 C>T_EAVSQWFTPDGFWSLFALVGTNGQG
5:38427224-38427224 C>T	1.0	2556	MELANOMA	-	-	ID=COSM225556;OCCURENCE=1(NS)	-	EGFLAM	NM_152403,p.R642W|ENST00000354891,p.R642W|ENST00000336740,p.R408W|uc003jle.2,p.R408W|NM_001205301,p.R642W|ENST00000322350,p.R642W|uc003jlb.2,p.R642W|uc003jlc.2,p.R642W|NM_182798,p.R408W	retained_intron, protein_coding, nonsense_mediated_decay	uc003jle.2	nonsynonymous SNV	exon9	c.C1222T	p.R408W	HYLSFMEFEITFRPDSGDGVLLYSY	HYLSFMEFEITFWPDSGDGVLLYSY	5.0	2.0	unscreened	-	2556_5:38427224-38427224 C>T_HYLSFMEFEITFWPDSGDGVLLYSY
18:61652384-61652384 G>A	1.0	2556	MELANOMA	-	-	-	-	SERPINB8	uc002lju.3,p.D209N|ENST00000353706,p.D209N|ENST00000542677,p.D27N|uc010xex.2,p.D27N|ENST00000397985,p.D209N|uc002ljv.3,p.D209N|NM_001276490,p.D27N|NM_001031848,p.D209N|uc002ljt.3,p.D209N|ENST00000397988,p.D209N|NM_002640,p.D209N|NM_198833,p.D209N	protein_coding, processed_transcript	uc010xex.2	nonsynonymous SNV	exon5	c.G79A	p.D27N	MFKEAKFKMGYADEVHTQVLELPYV	MFKEAKFKMGYANEVHTQVLELPYV	8.0	9.0	-	-	2556_18:61652384-61652384 G>A_MFKEAKFKMGYANEVHTQVLELPYV
17:7417303-7417303 C>T	1.0	2556	MELANOMA	-	-	-	-	POLR2A	uc002ghf.4,p.P1907L|ENST00000322644,p.P1907L|NM_000937,p.P1907L	retained_intron, protein_coding	uc002ghf.4	nonsynonymous SNV	exon29	c.C5720T	p.P1907L	YSPTSPVYTPTSPKYSPTSPTYSPT	YSPTSPVYTPTSLKYSPTSPTYSPT	9.0	7.0	-	-	2556_17:7417303-7417303 C>T_YSPTSPVYTPTSLKYSPTSPTYSPT
4:177249464-177249464 A>T	1.0	2556	MELANOMA	-	-	-	-	SPCS3	uc003iur.4,p.I176L|NM_021928,p.I176L|ENST00000503362,p.I176L	retained_intron, protein_coding, processed_transcript	uc003iur.4	nonsynonymous SNV	exon5	c.A526T	p.I176L	GHVSVPFPDTYEITKSY	GHVSVPFPDTYELTKSY	10.0	3.0	-	-	2556_4:177249464-177249464 A>T_GHVSVPFPDTYELTKSY
19:50001287-50001287 C>T	1.0	2556	MELANOMA	-	-	-	-	RPS11	ENST00000599561,p.P78L	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000599561	nonsynonymous SNV	exon4	c.C233T	p.P78L	PLREAPQEHVCTPVPLLQGRPDR	PLREAPQEHVCTLVPLLQGRPDR	10.0	9.0	-	-	2556_19:50001287-50001287 C>T_PLREAPQEHVCTLVPLLQGRPDR
7:150839595-150839595 C>T	1.0	2556	MELANOMA	-	-	-	-	AGAP3	uc003wjg.1,p.S716F|ENST00000463381,p.S385F|NM_031946,p.S716F|uc003wjj.1,p.S215F|NM_001281300,p.S385F|uc003wje.1,p.S385F|uc003wjk.1,p.S134F|ENST00000397238,p.S716F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003wjk.1	nonsynonymous SNV	exon3	c.C401T	p.S134F	HRHLGAHLSRVRSLDLDDWPPELLA	HRHLGAHLSRVRFLDLDDWPPELLA	9.0	1.0	-	-	2556_7:150839595-150839595 C>T_HRHLGAHLSRVRFLDLDDWPPELLA
18:48703718-48703718 G>A	1.0	2556	MELANOMA	-	-	-	-	MEX3C	NM_016626,p.T328I|uc002lfc.4,p.T328I|ENST00000406189,p.T328I	protein_coding, processed_transcript	uc002lfc.4	nonsynonymous SNV	exon2	c.C983T	p.T328I	GLSCSPNLPGQTTVQVRVPYRVVGL	GLSCSPNLPGQTIVQVRVPYRVVGL	10.0	10.0	-	-	2556_18:48703718-48703718 G>A_GLSCSPNLPGQTIVQVRVPYRVVGL
3:48454019-48454019 G>A	1.0	2556	MELANOMA	-	-	-	-	PLXNB1	NM_002673,p.T1622M|NM_001130082,p.T1622M|ENST00000456774,p.T1439M|ENST00000448774,p.T233M|uc003cst.2,p.T72M|ENST00000358536,p.T1622M|ENST00000358459,p.T1439M|uc003csx.2,p.T1622M|uc003csu.2,p.T1439M|uc003csw.2,p.T1622M|ENST00000296440,p.T1622M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003csx.2	nonsynonymous SNV	exon26	c.C4865T	p.T1622M	LNSKLFLTKFIHTLESQRTFSARDR	LNSKLFLTKFIHMLESQRTFSARDR	6.0	6.0	unscreened	-	2556_3:48454019-48454019 G>A_LNSKLFLTKFIHMLESQRTFSARDR
16:11076753-11076753 C>T	1.0	2556	MELANOMA	-	-	-	-	CLEC16A	NM_015226,p.H326Y|ENST00000409552,p.H324Y|uc021tcy.1,p.H326Y|uc002dan.4,p.H324Y|NM_001243403,p.H324Y|ENST00000409790,p.H326Y	retained_intron, protein_coding, processed_transcript	uc021tcy.1	nonsynonymous SNV	exon10	c.C976T	p.H326Y	LYLLSQVFLIIHHAPLVNSLAEVIL	LYLLSQVFLIIHYAPLVNSLAEVIL	7.0	3.0	-	-	2556_16:11076753-11076753 C>T_LYLLSQVFLIIHYAPLVNSLAEVIL
10:60124604-60124604 C>T	1.0	2556	MELANOMA	-	-	-	-	UBE2D1	uc021prc.1,p.S53L|NM_003338,p.S91L|ENST00000373910,p.S91L|NM_001204880,p.S53L|uc001jke.2,p.S91L	protein_coding, processed_transcript	uc021prc.1	nonsynonymous SNV	exon4	c.C158T	p.S53L	NSNGSICLDILRSQWSPALTVSKVL	NSNGSICLDILRLQWSPALTVSKVL	6.0	8.0	-	-	2556_10:60124604-60124604 C>T_NSNGSICLDILRLQWSPALTVSKVL
1:46810807-46810807 C>T	1.0	2556	MELANOMA	-	-	-	-	NSUN4	NM_001256128,p.P94L|uc001cpr.2,p.P143L|ENST00000537428,p.P94L|uc009vyg.2,p.P94L|NM_199044,p.P143L|uc010omc.2,p.P94L|ENST00000474844,p.P143L|uc031pml.1,p.P94L|NM_001256127,p.P94L|ENST00000536062,p.P94L	protein_coding, processed_transcript, nonsense_mediated_decay	uc031pml.1	nonsynonymous SNV	exon2	c.C281T	p.P94L	CFTFDRGDISRFPPARPGSLGVMEY	CFTFDRGDISRFLPARPGSLGVMEY	7.0	5.0	-	-	2556_1:46810807-46810807 C>T_CFTFDRGDISRFLPARPGSLGVMEY
7:134135564-134135564 G>A	1.0	2556	MELANOMA	-	-	-	-	AKR1B1	ENST00000434222,p.L109F|uc003vrp.1,p.L109F|NM_001628,p.L109F|ENST00000285930,p.L109F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vrp.1	nonsynonymous SNV	exon3	c.C325T	p.L109F	LSDLKLDYLDLYLIHWPTGFKPGKE	LSDLKLDYLDLYFIHWPTGFKPGKE	9.0	2.0	unscreened	-	2556_7:134135564-134135564 G>A_LSDLKLDYLDLYFIHWPTGFKPGKE
10:62544576-62544576 G>A	1.0	2556	MELANOMA	-	-	-	-	CDK1	ENST00000316629,p.E51K|NM_001170406,p.E51K|ENST00000395284,p.E51K|uc001jlg.3,p.E51K|uc021prh.1,p.E51K|NM_033379,p.E51K|uc010qii.2,p.E51K|NM_001786,p.E51K|NM_001170407,p.E51K|ENST00000519078,p.E51K|ENST00000373809,p.E51K|ENST00000448257,p.E51K|uc001jld.3,p.E51K|uc031pvg.1,p.E51K	retained_intron, protein_coding, processed_transcript	uc031pvg.1	nonsynonymous SNV	exon3	c.G151A	p.E51K	SEEEGVPSTAIREISLLKELRHPNI	SEEEGVPSTAIRKISLLKELRHPNI	9.0	7.0	-	-	2556_10:62544576-62544576 G>A_SEEEGVPSTAIRKISLLKELRHPNI
3:52245356-52245356 C>T	1.0	2556	MELANOMA	-	-	-	-	ALAS1	uc003dcy.2,p.T463I|ENST00000394965,p.T463I|NM_199166,p.T463I|ENST00000484952,p.T463I|NM_000688,p.T463I|ENST00000310271,p.T463I|uc011bec.2,p.T480I|uc003dcz.2,p.T463I|ENST00000469224,p.T463I	protein_coding	uc011bec.2	nonsynonymous SNV	exon10	c.C1439T	p.T480I	GGYIASTSSLIDTVRSYAAGFIFTT	GGYIASTSSLIDIVRSYAAGFIFTT	9.0	1.0	unscreened	-	2556_3:52245356-52245356 C>T_GGYIASTSSLIDIVRSYAAGFIFTT
5:7878371-7878371 C>T	1.0	2556	MELANOMA	-	-	-	-	MTRR	uc003jed.3,p.S266F|NM_002454,p.S239F|ENST00000264668,p.S266F|ENST00000440940,p.S239F|uc003jee.4,p.S239F|NM_024010,p.S266F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jee.4	nonsynonymous SNV	exon5	c.C716T	p.S239F	SLTRSVPPLSQASLNIPGLPPEYLQ	SLTRSVPPLSQAFLNIPGLPPEYLQ	10.0	3.0	-	-	2556_5:7878371-7878371 C>T_SLTRSVPPLSQAFLNIPGLPPEYLQ
6:74440247-74440247 C>T	1.0	2556	MELANOMA	-	-	-	-	CD109	NM_001159587,p.L153F|uc003phq.3,p.L153F|ENST00000437994,p.L153F|uc003php.3,p.L153F|ENST00000287097,p.L153F|NM_133493,p.L153F	protein_coding, processed_transcript	uc003phq.3	nonsynonymous SNV	exon4	c.C457T	p.L153F	KPKQEVKFRIVTLFSDFKPYKTSLN	KPKQEVKFRIVTFFSDFKPYKTSLN	10.0	6.0	-	-	2556_6:74440247-74440247 C>T_KPKQEVKFRIVTFFSDFKPYKTSLN
6:16326840-16326840 G>A	1.0	2556	MELANOMA	-	-	-	-	ATXN1	ENST00000244769,p.P568S|NM_000332,p.P568S|NM_001128164,p.P568S|uc003nbt.3,p.P568S|ENST00000436367,p.P568S|uc010jpi.3,p.P568S	protein_coding, processed_transcript	uc010jpi.3	nonsynonymous SNV	exon7	c.C1702T	p.P568S	VVQSVASPAAAPPTLPPYFMKGSII	VVQSVASPAAAPSTLPPYFMKGSII	8.0	3.0	-	-	2556_6:16326840-16326840 G>A_VVQSVASPAAAPSTLPPYFMKGSII
8:77764324-77764324 C>T	1.0	2556	MELANOMA	-	-	-	-	ZFHX4	ENST00000521891,p.P1723S|ENST00000050961,p.P1678S|uc003yaw.1,p.P1678S|uc003yau.2,p.P1723S|ENST00000518282,p.P1697S|NM_024721,p.P1723S|ENST00000455469,p.P1678S	retained_intron, protein_coding, nonsense_mediated_decay	uc003yaw.1	nonsynonymous SNV	exon9	c.C5032T	p.P1678S	PQFLNPAFLPHFPMTPEALLQFQQP	PQFLNPAFLPHFSMTPEALLQFQQP	6.0	7.0	-	-	2556_8:77764324-77764324 C>T_PQFLNPAFLPHFSMTPEALLQFQQP
11:3140788-3140788 G>A	1.0	2556	MELANOMA	-	-	-	-	OSBPL5	uc001lxk.2,p.S227F|uc009ydx.3,p.S251F|ENST00000263650,p.S227F|uc010qxq.1,p.S138F|NM_145638,p.S159F|NM_020896,p.S227F|uc009ydw.2,p.S159F|uc001lxl.2,p.S159F|NM_001144063,p.S159F|ENST00000525498,p.S138F|ENST00000348039,p.S159F|ENST00000389989,p.S159F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qxq.1	nonsynonymous SNV	exon5	c.C413T	p.S138F	PLPSSYLIFRAASESDGRCWLDALE	PLPSSYLIFRAAFESDGRCWLDALE	6.0	1.0	-	-	2556_11:3140788-3140788 G>A_PLPSSYLIFRAAFESDGRCWLDALE
17:28601112-28601112 G>A	1.0	2556	MELANOMA	-	-	-	-	BLMH	ENST00000581037,p.P132L|NM_000386,p.P250L|ENST00000261714,p.P250L|ENST00000577623,p.P74L|uc002hez.2,p.P250L|ENST00000394819,p.P163L|uc010wbn.2,p.P163L|ENST00000584603,p.P250L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wbn.2	nonsynonymous SNV	exon6	c.C488T	p.P163L	KDKNYQKIGPITPLEFYREHVKPLF	KDKNYQKIGPITLLEFYREHVKPLF	9.0	7.0	-	-	2556_17:28601112-28601112 G>A_KDKNYQKIGPITLLEFYREHVKPLF
17:1800405-1800405 C>T	1.0	2556	MELANOMA	-	-	-	-	RPA1	NM_002945,p.P596L|ENST00000254719,p.P596L|uc002fto.2,p.P596L|ENST00000574049,p.P293L	retained_intron, protein_coding, processed_transcript	uc002fto.2	nonsynonymous SNV	exon17	c.C1787T	p.P596L	ESRIKATVMDVKPVDYREYGRRLVM	ESRIKATVMDVKLVDYREYGRRLVM	9.0	6.0	-	-	2556_17:1800405-1800405 C>T_ESRIKATVMDVKLVDYREYGRRLVM
4:148575273-148575273 G>A	1.0	2556	MELANOMA	-	-	-	1	PRMT9	NM_138364,p.S592F|ENST00000322396,p.S592F|uc003ilc.3,p.S592F|uc003ilb.3,p.S236F|ENST00000541232,p.S479F|uc003ild.3,p.S479F	retained_intron, protein_coding, nonsense_mediated_decay	uc003ild.3	nonsynonymous SNV	exon8	c.C1436T	p.S479F	EPFYVLDVSEGFSVLPVIAGTLGQV	EPFYVLDVSEGFFVLPVIAGTLGQV	6.0	3.0	-	-	2556_4:148575273-148575273 G>A_EPFYVLDVSEGFFVLPVIAGTLGQV
3:48454020-48454020 T>A	1.0	2556	MELANOMA	-	-	-	-	PLXNB1	NM_001130082,p.T1622S|ENST00000456774,p.T1439S|ENST00000358459,p.T1439S|uc003csu.2,p.T1439S|uc003cst.2,p.T72S|uc003csw.2,p.T1622S|ENST00000448774,p.T233S|NM_002673,p.T1622S|uc003csx.2,p.T1622S|ENST00000296440,p.T1622S|ENST00000358536,p.T1622S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003csx.2	nonsynonymous SNV	exon26	c.A4864T	p.T1622S	LNSKLFLTKFIHTLESQRTFSARDR	LNSKLFLTKFIHSLESQRTFSARDR	6.0	6.0	unscreened	-	2556_3:48454020-48454020 T>A_LNSKLFLTKFIHSLESQRTFSARDR
11:6238409-6238409 G>A	1.0	2556	MELANOMA	-	-	-	-	FAM160A2	uc001mcm.2,p.H803Y|ENST00000524416,p.H803Y	protein_coding, processed_transcript	uc001mcm.2	nonsynonymous SNV	exon9	c.C2407T	p.H803Y	SYLCPCVCLYVFHACAGLSIDLHLS	SYLCPCVCLYVFYACAGLSIDLHLS	6.0	2.0	-	-	2556_11:6238409-6238409 G>A_SYLCPCVCLYVFYACAGLSIDLHLS
5:32271966-32271966 G>A	1.0	2556	MELANOMA	-	-	-	-	MTMR12	uc010iul.3,p.L111F|NM_001294344,p.L111F|ENST00000264934,p.L111F|ENST00000382142,p.L111F|NM_001294343,p.L111F|uc010iuk.3,p.L111F|ENST00000280285,p.L111F|uc003jhq.3,p.L111F|NM_001040446,p.L111F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010iul.3	nonsynonymous SNV	exon4	c.C331T	p.L111F	FKNKVIGENDITLHCVDQIYGVFDE	FKNKVIGENDITFHCVDQIYGVFDE	8.0	8.0	-	-	2556_5:32271966-32271966 G>A_FKNKVIGENDITFHCVDQIYGVFDE
17:74878371-74878371 C>T	1.0	2556	MELANOMA	-	-	-	-	MGAT5B	ENST00000569840,p.P107L|uc002jti.3,p.P118L|ENST00000428789,p.P118L|ENST00000301618,p.P107L|NM_198955,p.P118L|uc031rem.1,p.P107L|NM_144677,p.P107L|ENST00000565043,p.P118L|NM_001199172,p.P107L|uc002jth.3,p.P107L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rem.1	nonsynonymous SNV	exon3	c.C320T	p.P107L	SELHRAGGDLHFPADRMPPGAGLME	SELHRAGGDLHFLADRMPPGAGLME	5.0	6.0	-	-	2556_17:74878371-74878371 C>T_SELHRAGGDLHFLADRMPPGAGLME
3:100617690-100617690 G>A	1.0	2556	MELANOMA	-	-	-	-	ABI3BP	ENST00000530539,p.T73I|uc003dup.4,p.T126I|ENST00000284322,p.T133I|NM_015429,p.T133I|uc003dun.3,p.T133I|uc003duo.2,p.T126I|ENST00000495063,p.T133I|ENST00000527258,p.T52I|ENST00000471714,p.T133I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003dup.4	nonsynonymous SNV	exon4	c.C377T	p.T126I	SRKPLQLVVGTLTPSSVFLSWGFLI	SRKPLQLVVGTLIPSSVFLSWGFLI	5.0	6.0	-	-	2556_3:100617690-100617690 G>A_SRKPLQLVVGTLIPSSVFLSWGFLI
6:160468878-160468878 G>A	1.0	2556	MELANOMA	-	-	-	-	IGF2R	NM_000876,p.E762K|ENST00000356956,p.E762K|uc003qta.3,p.E762K	protein_coding, processed_transcript	uc003qta.3	nonsynonymous SNV	exon17	c.G2284A	p.E762K	YNFRWYTSYACPEEPLECVVTDPST	YNFRWYTSYACPKEPLECVVTDPST	10.0	10.0	-	-	2556_6:160468878-160468878 G>A_YNFRWYTSYACPKEPLECVVTDPST
19:19744922-19744922 G>A	1.0	2556	MELANOMA	0.0005	-	-	-	GMIP	uc010xrb.2,p.P695L|NM_016573,p.P721L|NM_001288998,p.P692L|ENST00000445806,p.P692L|NM_001288999,p.P695L|ENST00000587238,p.P695L|ENST00000203556,p.P721L|uc010xrc.2,p.P692L|uc002nnd.3,p.P721L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xrc.2	nonsynonymous SNV	exon18	c.C2075T	p.P692L	NLGIVFGPTLLRPPDGPRAASAIPV	NLGIVFGPTLLRLPDGPRAASAIPV	5.0	9.0	-	-	2556_19:19744922-19744922 G>A_NLGIVFGPTLLRLPDGPRAASAIPV
13:115037739-115037739 C>T	1.0	2556	MELANOMA	-	-	-	-	CDC16	uc001vuo.1,p.P510S|uc001vun.1,p.P561S|ENST00000252458,p.P417S|ENST00000360383,p.P562S|ENST00000252457,p.P561S|NM_001078645,p.P562S|ENST00000375308,p.P468S|uc001vuk.1,p.P562S|ENST00000375310,p.P468S|ENST00000356221,p.P562S|uc001vum.1,p.P468S|NM_003903,p.P562S|ENST00000375312,p.P417S|uc001vul.1,p.P562S	retained_intron, protein_coding, processed_transcript	uc001vuo.1	nonsynonymous SNV	exon17	c.C1528T	p.P510S	HTMKTLKNIISPPWDFREFEVEKQT	HTMKTLKNIISPSWDFREFEVEKQT	10.0	6.0	-	-	2556_13:115037739-115037739 C>T_HTMKTLKNIISPSWDFREFEVEKQT
6:30656509-30656509 G>A	1.0	2556	MELANOMA	0.02	-	-	-	NRM	uc031sng.1,p.R246C|uc031snf.1,p.R102C|NM_001270709,p.R181C|uc003nrc.4,p.R240C|NM_007243,p.R240C|ENST00000259953,p.R240C|ENST00000376420,p.R181C|uc031snh.1,p.R181C|NM_001270707,p.R246C|ENST00000376421,p.R240C|uc003nre.4,p.R128C	protein_coding, processed_transcript	uc031snh.1	nonsynonymous SNV	exon3	c.C541T	p.R181C	LGLAHGLDQQDLRYLRAQLQRKLHL	LGLAHGLDQQDLCYLRAQLQRKLHL	7.0	1.0	unscreened	-	2556_6:30656509-30656509 G>A_LGLAHGLDQQDLCYLRAQLQRKLHL
4:114824274-114824274 T>C	1.0	2556	MELANOMA	-	-	-	-	ARSJ	NM_024590,p.N319S|uc003ibq.1,p.N319S|uc010imv.1,p.N147S|uc010imu.1,p.N319S|ENST00000541197,p.N319S|ENST00000315366,p.N319S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010imv.1	nonsynonymous SNV	exon4	c.A440G	p.N147S	VTLALKTYGFYNNSIIIYSSDNGGQ	VTLALKTYGFYNSSIIIYSSDNGGQ	8.0	3.0	-	-	2556_4:114824274-114824274 T>C_VTLALKTYGFYNSSIIIYSSDNGGQ
10:94695586-94695586 C>T	1.0	2556	MELANOMA	-	-	-	-	EXOC6	uc009xub.3,p.P386S|ENST00000371547,p.P402S|ENST00000260762,p.P386S|ENST00000495132,p.P63S|NM_001013848,p.P381S|uc001kie.3,p.P381S|NM_019053,p.P386S|uc001kig.3,p.P386S|uc010qnr.2,p.P402S|ENST00000371552,p.P381S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qnr.2	nonsynonymous SNV	exon13	c.C1204T	p.P402S	AVLRAHSSYCTDPDLVLELKNLTVI	AVLRAHSSYCTDSDLVLELKNLTVI	7.0	7.0	-	-	2556_10:94695586-94695586 C>T_AVLRAHSSYCTDSDLVLELKNLTVI
X:96213055-96213055 C>T	1.0	2556	MELANOMA	-	-	-	-	DIAPH2	NM_007309,p.P615S|uc004efu.4,p.P615S|ENST00000373054,p.P611S|ENST00000355827,p.P615S|ENST00000373049,p.P615S|ENST00000373061,p.P615S|uc004eft.4,p.P615S|ENST00000324765,p.P615S|NM_006729,p.P615S	protein_coding	uc004efu.4	nonsynonymous SNV	exon16	c.C1843T	p.P615S	PPPPPPLGGVPPPPGISLNLPYGMK	PPPPPPLGGVPPSPGISLNLPYGMK	8.0	9.0	-	-	2556_X:96213055-96213055 C>T_PPPPPPLGGVPPSPGISLNLPYGMK
18:6138202-6138202 C>T	1.0	2556	MELANOMA	-	-	-	-	L3MBTL4	uc010dkt.3,p.G397E|ENST00000535782,p.G210E|ENST00000317931,p.G397E|ENST00000400104,p.G397E|uc002kmz.4,p.G397E|NM_173464,p.G397E|ENST00000400105,p.G397E|uc002kmy.4,p.G397E|ENST00000284898,p.G397E	protein_coding, processed_transcript	uc010dkt.3	nonsynonymous SNV	exon14	c.G1190A	p.G397E	RGIGHIRGPRYSGHHSAFGCPYSDM	RGIGHIRGPRYSEHHSAFGCPYSDM	5.0	1.0	-	-	2556_18:6138202-6138202 C>T_RGIGHIRGPRYSEHHSAFGCPYSDM
15:62174893-62174893 G>A	1.0	2556	MELANOMA	-	-	-	-	VPS13C	uc002aha.3,p.R3133C|ENST00000395898,p.R3133C|NM_001018088,p.R3176C|NM_017684,p.R3133C|uc002ahc.2,p.R3133C|NM_020821,p.R3176C|uc002agz.3,p.R3176C|NM_018080,p.R3133C|ENST00000395896,p.R3176C|ENST00000249837,p.R3133C|ENST00000261517,p.R3176C|uc002ahb.2,p.R3176C	retained_intron, protein_coding, processed_transcript	uc002ahc.2	nonsynonymous SNV	exon67	c.C9397T	p.R3133C	FDKDPMEMRLPIRSPIKRDFLSGIQ	FDKDPMEMRLPICSPIKRDFLSGIQ	8.0	9.0	-	-	2556_15:62174893-62174893 G>A_FDKDPMEMRLPICSPIKRDFLSGIQ
2:197755596-197755596 G>T	1.0	2556	MELANOMA	-	-	-	-	PGAP1	uc002utx.3,p.H203N|uc002utw.3,p.H377N|ENST00000409475,p.H377N|ENST00000354764,p.H377N|NM_024989,p.H377N|ENST00000374738,p.H157N|uc002uty.1,p.H377N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002uty.1	nonsynonymous SNV	exon10	c.C1129A	p.H377N	SEKIYFTFPLENHRKIYTHVYCQST	SEKIYFTFPLENNRKIYTHVYCQST	8.0	5.0	-	-	2556_2:197755596-197755596 G>T_SEKIYFTFPLENNRKIYTHVYCQST
2:26410996-26410996 C>T	1.0	2556	MELANOMA	-	-	-	-	GAREML	NM_001168241,p.A832V|uc002rgx.2,p.A622V|NM_001191033,p.A622V|ENST00000407684,p.A622V|uc002rgw.2,p.A832V|ENST00000401533,p.A832V	protein_coding, processed_transcript	uc002rgx.2	nonsynonymous SNV	exon6	c.C1865T	p.A622V	FIGLSEDVVSFFARERIDGSIFVQL	FIGLSEDVVSFFVRERIDGSIFVQL	5.0	9.0	-	-	2556_2:26410996-26410996 C>T_FIGLSEDVVSFFVRERIDGSIFVQL
17:26902194-26902194 C>T	1.0	2556	MELANOMA	-	-	-	-	ALDOC	ENST00000226253,p.G91S|uc002hbp.3,p.G91S|ENST00000584086,p.G91S|ENST00000435638,p.G91S|ENST00000395321,p.G91S|ENST00000578590,p.G91S|ENST00000395319,p.G91S|ENST00000460201,p.G91S|NM_005165,p.G91S|ENST00000581807,p.G52S	retained_intron, protein_coding	uc002hbp.3	nonsynonymous SNV	exon3	c.G271A	p.G91S	FFHETLYQKDDNGVPFVRTIQDKGI	FFHETLYQKDDNSVPFVRTIQDKGI	9.0	2.0	-	-	2556_17:26902194-26902194 C>T_FFHETLYQKDDNSVPFVRTIQDKGI
6:56510958-56510958 T>A	1.0	2556	MELANOMA	-	-	-	-	DST	uc021zaz.2,p.Q315L|ENST00000449297,p.Q493L|NM_001144770,p.Q355L|ENST00000520645,p.Q355L|uc003pde.2,p.Q431L|NM_183380,p.Q315L|ENST00000370754,p.Q493L|ENST00000421834,p.Q315L|uc021zay.2,p.Q355L|uc011dxl.1,p.Q344L|ENST00000312431,p.Q315L|NM_001144769,p.Q493L|uc021zba.2,p.Q493L|ENST00000370788,p.Q315L|ENST00000361203,p.Q315L|ENST00000370769,p.Q315L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zba.2	nonsynonymous SNV	exon13	c.A1478T	p.Q493L	PVELKALYNQYLQFKETEIPPKETE	PVELKALYNQYLLFKETEIPPKETE	10.0	6.0	-	-	2556_6:56510958-56510958 T>A_PVELKALYNQYLLFKETEIPPKETE
1:150921736-150921736 C>T	0.0	2556	MELANOMA	-	-	-	-	SETDB1	uc009wmf.2,p.P469L|ENST00000534805,p.P469L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009wmf.2	nonsynonymous SNV	exon11	c.C1406T	p.P469L	PAPPFPPAPPLSPQAGDSESLESQL	PAPPFPPAPPLSLQAGDSESLESQL	8.0	2.0	unscreened	-	2556_1:150921736-150921736 C>T_PAPPFPPAPPLSLQAGDSESLESQL
3:49160445-49160445 G>A	1.0	2556	MELANOMA	-	-	-	-	LAMB2	NM_002292,p.P1422L|uc003cwe.3,p.P1422L|ENST00000305544,p.P1422L|ENST00000418109,p.P1422L	retained_intron, protein_coding, processed_transcript	uc003cwe.3	nonsynonymous SNV	exon27	c.C4265T	p.P1422L	CGAPGDAPCATSPCGGAGCRDEDGQ	CGAPGDAPCATSLCGGAGCRDEDGQ	10.0	8.0	-	-	2556_3:49160445-49160445 G>A_CGAPGDAPCATSLCGGAGCRDEDGQ
1:150921736-150921736 C>T	0.0	2556	MELANOMA	-	-	-	-	SETDB1	NM_001145415,p.P469L|uc001evu.2,p.P469L|uc001evv.2,p.P469L|uc009wmg.2,p.P469L|ENST00000271640,p.P469L|ENST00000368969,p.P469L|NM_012432,p.P469L|ENST00000498193,p.P469L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009wmg.2	nonsynonymous SNV	exon11	c.C1406T	p.P469L	PAPPFPPAPPLSPQAGDSDLESQLA	PAPPFPPAPPLSLQAGDSDLESQLA	8.0	2.0	-	-	2556_1:150921736-150921736 C>T_PAPPFPPAPPLSLQAGDSDLESQLA
X:24861664-24861664 G>A	0.0	2556	MELANOMA	-	-	-	-	POLA1	NM_016937,p.G1300E|ENST00000379059,p.G1300E|ENST00000379068,p.G1306E|uc004dbl.3,p.G1300E	protein_coding, processed_transcript	uc004dbl.3	nonsynonymous SNV	exon34	c.G3899A	p.G1300E	TENIYDNVFDGSGTDMEPSLYRCSN	TENIYDNVFDGSETDMEPSLYRCSN	8.0	3.0	-	-	2556_X:24861664-24861664 G>A_TENIYDNVFDGSETDMEPSLYRCSN
4:184236860-184236860 C>T	1.0	2556	MELANOMA	-	-	-	-	WWC2	uc003ivo.4,p.S314F|ENST00000504005,p.S868F|uc010irz.3,p.S527F|uc003ivk.4,p.S981F|ENST00000403733,p.S1186F|uc010irx.3,p.S1186F|NM_024949,p.S1186F|ENST00000508747,p.S314F|ENST00000448232,p.S1210F|uc010iry.3,p.S868F|ENST00000513834,p.S1137F|uc003ivn.4,p.S701F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010irz.3	nonsynonymous SNV	exon11	c.C1580T	p.S527F	IAYFTRAKISIPSLPADDV	IAYFTRAKISIPFLPADDV	8.0	3.0	-	-	2556_4:184236860-184236860 C>T_IAYFTRAKISIPFLPADDV
5:6753079-6753079 C>T	1.0	2556	MELANOMA	-	-	-	-	PAPD7	uc003jdx.1,p.H455Y|uc010itl.1,p.H275Y|NM_006999,p.H455Y|uc011cmn.2,p.H455Y|ENST00000230859,p.H455Y|NM_001171805,p.H455Y|NM_001171806,p.H275Y	retained_intron, protein_coding	uc011cmn.2	nonsynonymous SNV	exon12	c.C1363T	p.H455Y	AGVEGTASLKAVHHMSSPAIPSASP	AGVEGTASLKAVYHMSSPAIPSASP	8.0	6.0	-	-	2556_5:6753079-6753079 C>T_AGVEGTASLKAVYHMSSPAIPSASP
3:127379482-127379482 G>C	1.0	2556	MELANOMA	-	-	-	-	PODXL2	uc003ejq.3,p.R204P|ENST00000342480,p.R204P|NM_015720,p.R204P	protein_coding	uc003ejq.3	nonsynonymous SNV	exon3	c.G611C	p.R204P	VNGSQEEAKPQVRDFSLTSSSQTPG	VNGSQEEAKPQVPDFSLTSSSQTPG	7.0	5.0	-	-	2556_3:127379482-127379482 G>C_VNGSQEEAKPQVPDFSLTSSSQTPG
5:141694402-141694402 G>A	1.0	2556	MELANOMA	-	-	-	-	SPRY4	ENST00000434127,p.S91F|NM_001127496,p.S91F|uc003lml.2,p.S91F|uc010jgi.1,p.S114F|uc021yet.1,p.S91F|ENST00000344120,p.S114F|NM_001293290,p.S91F|NM_030964,p.S114F|NM_001293289,p.S91F	protein_coding, processed_transcript	uc021yet.1	nonsynonymous SNV	exon1	c.C272T	p.S91F	ARCDQDVTHHWISFSGRPSSVSSSS	ARCDQDVTHHWIFFSGRPSSVSSSS	10.0	7.0	-	-	2556_5:141694402-141694402 G>A_ARCDQDVTHHWIFFSGRPSSVSSSS
3:31917962-31917962 C>T	1.0	2556	MELANOMA	-	-	-	-	OSBPL10	NM_001174060,p.R167Q|uc021wuu.1,p.R167Q|uc011axf.2,p.R167Q|ENST00000396556,p.R167Q|NM_017784,p.R167Q|ENST00000438237,p.R167Q	retained_intron, protein_coding, processed_transcript	uc021wuu.1	nonsynonymous SNV	exon3	c.G500A	p.R167Q	DAKEKQFWVTQLRACAKYHMEMNSK	DAKEKQFWVTQLQACAKYHMEMNSK	10.0	7.0	-	-	2556_3:31917962-31917962 C>T_DAKEKQFWVTQLQACAKYHMEMNSK
3:153994625-153994625 A>G	1.0	2556	MELANOMA	-	-	-	-	DHX36	uc003ezz.4,p.S889P|ENST00000329463,p.S904P|uc010hvq.3,p.S904P|ENST00000308361,p.S889P|NM_020865,p.S918P|uc003ezy.4,p.S918P|NM_001114397,p.S904P|ENST00000496811,p.S918P|ENST00000544526,p.S904P	retained_intron, protein_coding, nonsense_mediated_decay	uc010hvq.3	nonsynonymous SNV	exon24	c.T2710C	p.S904P	SPYCLLFFGGDISIQKDNDQETIAV	SPYCLLFFGGDIPIQKDNDQETIAV	9.0	2.0	-	-	2556_3:153994625-153994625 A>G_SPYCLLFFGGDIPIQKDNDQETIAV
1:46810807-46810807 C>T	1.0	2556	MELANOMA	-	-	-	-	NSUN4	uc009vyf.2,p.L44F	protein_coding, processed_transcript, nonsense_mediated_decay	uc009vyf.2	nonsynonymous SNV	exon2	c.C130T	p.L44F	ASLLTEGISVASLLPGNLAANDLSP	ASLLTEGISVASFLPGNLAANDLSP	7.0	5.0	unscreened	-	2556_1:46810807-46810807 C>T_ASLLTEGISVASFLPGNLAANDLSP
13:76427283-76427283 C>T	1.0	2556	MELANOMA	-	-	-	-	LMO7	NM_005358,p.P1192S|ENST00000465261,p.P1241S|uc010thw.2,p.P1118S|NM_015842,p.P1241S|uc001vjv.3,p.P1241S|uc010thv.2,p.P1192S|ENST00000526202,p.P1118S|uc021rkq.1,p.P1474S|ENST00000377534,p.P1526S|ENST00000357063,p.P1526S|ENST00000341547,p.P1192S|ENST00000321797,p.P1241S	retained_intron, protein_coding, processed_transcript	uc021rkq.1	nonsynonymous SNV	exon28	c.C4420T	p.P1474S	LDSPRSNSWRQPPWLNQPTGFYASS	LDSPRSNSWRQPSWLNQPTGFYASS	10.0	7.0	-	-	2556_13:76427283-76427283 C>T_LDSPRSNSWRQPSWLNQPTGFYASS
2:232127068-232127068 C>T	1.0	2556	MELANOMA	-	-	-	-	ARMC9	uc002vrp.5,p.A359V|NM_001291656,p.A359V|NM_025139,p.A359V|ENST00000349938,p.A359V|uc002vrq.5,p.A359V|ENST00000436339,p.A76V|uc031rrs.1,p.A359V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rrs.1	nonsynonymous SNV	exon12	c.C1076T	p.A359V	SHPGEQRETVLQAYISNDLLDCYSH	SHPGEQRETVLQVYISNDLLDCYSH	10.0	7.0	-	-	2556_2:232127068-232127068 C>T_SHPGEQRETVLQVYISNDLLDCYSH
6:64423096-64423096 C>T	1.0	2556	MELANOMA	-	-	-	-	PHF3	uc003pep.1,p.P1871L|NM_001290259,p.P1783L|uc011dxs.1,p.P1140L|ENST00000262043,p.P1871L|NM_015153,p.P1871L|uc003pen.2,p.P1783L|ENST00000393387,p.P1871L	protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxs.1	nonsynonymous SNV	exon14	c.C3419T	p.P1140L	VHLPGQPQRMMGPLSQASRYIGPQN	VHLPGQPQRMMGLLSQASRYIGPQN	10.0	3.0	-	-	2556_6:64423096-64423096 C>T_VHLPGQPQRMMGLLSQASRYIGPQN
16:51173558-51173558 C>T	1.0	2556	MELANOMA	-	-	-	-	SALL1	NM_002968,p.E859K|ENST00000251020,p.E859K|uc021tid.1,p.E762K|ENST00000570206,p.E762K|ENST00000440970,p.E762K|NM_001127892,p.E762K|uc021tif.1,p.E762K|uc021tie.1,p.E859K	protein_coding, processed_transcript	uc021tif.1	nonsynonymous SNV	exon2	c.G2284A	p.E762K	SQDSLSSSPLPLEMSSIAALENQMK	SQDSLSSSPLPLKMSSIAALENQMK	6.0	4.0	unscreened	-	2556_16:51173558-51173558 C>T_SQDSLSSSPLPLKMSSIAALENQMK
22:41521992-41521992 C>T	1.0	2556	MELANOMA	-	-	-	1	EP300	NM_001429,p.S285F|uc003azl.4,p.S285F|ENST00000263253,p.S285F	protein_coding	uc003azl.4	nonsynonymous SNV	exon3	c.C854T	p.S285F	QIQTKTVLSNNLSPFAMDKKAVPGG	QIQTKTVLSNNLFPFAMDKKAVPGG	8.0	1.0	unscreened	-	2556_22:41521992-41521992 C>T_QIQTKTVLSNNLFPFAMDKKAVPGG
7:20762706-20762706 C>T	0.0	2556	MELANOMA	-	-	ID=COSM1686017,COSM1686016;OCCURENCE=2(skin)	-	ABCB5	uc010kuh.3,p.S830F|NM_178559,p.S385F|ENST00000258738,p.S385F|ENST00000404938,p.S830F|NM_001163941,p.S830F|uc003suw.4,p.S385F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010kuh.3	nonsynonymous SNV	exon21	c.C2489T	p.S830F	QNATNMGLSVIISFIYGWEMTFLIL	QNATNMGLSVIIFFIYGWEMTFLIL	9.0	10.0	unscreened	-	2556_7:20762706-20762706 C>T_QNATNMGLSVIIFFIYGWEMTFLIL
12:7355295-7355295 A>C	1.0	2556	MELANOMA	-	-	-	-	PEX5	ENST00000396637,p.I259L|ENST00000266564,p.I281L|uc001qsv.3,p.I281L|NM_000319,p.I281L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001qsv.3	nonsynonymous SNV	exon8	c.A841C	p.I281L	ALDMEFERAKSAIELQAELEEMAKR	ALDMEFERAKSALELQAELEEMAKR	7.0	9.0	-	-	2556_12:7355295-7355295 A>C_ALDMEFERAKSALELQAELEEMAKR
17:81006583-81006583 C>T	1.0	2556	MELANOMA	-	-	-	-	B3GNTL1	ENST00000320865,p.G47S|NM_001009905,p.G47S|uc002kgg.1,p.G47S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kgg.1	nonsynonymous SNV	exon2	c.G139A	p.G47S	ECLRSVLQQDFEGTMELSVFNDASK	ECLRSVLQQDFESTMELSVFNDASK	6.0	7.0	-	-	2556_17:81006583-81006583 C>T_ECLRSVLQQDFESTMELSVFNDASK
12:98941500-98941500 C>T	1.0	2556	MELANOMA	-	-	-	-	TMPO	uc001tfk.3,p.S301F|NM_001032283,p.S410F|uc001tfj.3,p.S410F|ENST00000393053,p.S301F|NM_001032284,p.S301F|ENST00000343315,p.S370F|ENST00000556029,p.S410F	retained_intron, protein_coding, processed_transcript	uc001tfk.3	nonsynonymous SNV	exon6	c.C902T	p.S301F	ADVKSEKTKKGRSIPVWIKILLFVV	ADVKSEKTKKGRFIPVWIKILLFVV	10.0	9.0	-	-	2556_12:98941500-98941500 C>T_ADVKSEKTKKGRFIPVWIKILLFVV
2:160092639-160092639 G>A	1.0	2556	MELANOMA	-	-	-	-	WDSUB1	NM_001128212,p.P446S|uc010foo.3,p.P354S|NM_001128213,p.P446S|ENST00000358147,p.P354S|NM_152528,p.P446S|uc002uak.4,p.P446S|uc002uaj.4,p.P446S|ENST00000359774,p.P446S|ENST00000392796,p.P446S|ENST00000409124,p.P399S|uc002ual.4,p.P446S|ENST00000409990,p.P446S	protein_coding	uc010foo.3	nonsynonymous SNV	exon7	c.C1060T	p.P354S	MENWISKKKRTSPMTNLVLPSAVLT	MENWISKKKRTSSMTNLVLPSAVLT	6.0	6.0	-	-	2556_2:160092639-160092639 G>A_MENWISKKKRTSSMTNLVLPSAVLT
2:207173100-207173100 C>T	1.0	2556	MELANOMA	-	-	-	-	ZDBF2	ENST00000374423,p.S1283F|uc002vbp.2,p.S1283F|uc031rqy.1,p.S1281F|NM_001285549,p.S1281F|NM_020923,p.S1283F	protein_coding	uc031rqy.1	nonsynonymous SNV	exon7	c.C3842T	p.S1281F	VDLENKIVKPTDSRINFDSHEPLQS	VDLENKIVKPTDFRINFDSHEPLQS	8.0	5.0	-	-	2556_2:207173100-207173100 C>T_VDLENKIVKPTDFRINFDSHEPLQS
17:64173000-64173000 G>A	1.0	2556	MELANOMA	-	-	-	-	CEP112	NM_001199165,p.P82L|uc002jfl.3,p.P82L|ENST00000535342,p.P82L|uc010dep.2,p.P82L|NM_145036,p.P82L|ENST00000537949,p.P82L|ENST00000392769,p.P82L|ENST00000583358,p.P82L|uc002jfm.3,p.P82L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dep.2	nonsynonymous SNV	exon3	c.C245T	p.P82L	LLHMLKRGALEGPFTHRPEPGTLKI	LLHMLKRGALEGLFTHRPEPGTLKI	7.0	7.0	-	-	2556_17:64173000-64173000 G>A_LLHMLKRGALEGLFTHRPEPGTLKI
16:29917112-29917112 C>G	1.0	2556	MELANOMA	-	-	-	-	ASPHD1	ENST00000414952,p.S356C|NM_181718,p.S356C|ENST00000563177,p.S75C|uc002dut.3,p.S356C|ENST00000566693,p.S356C|ENST00000483405,p.S75C|ENST00000308748,p.S356C	protein_coding, nonsense_mediated_decay	uc002dut.3	nonsynonymous SNV	exon3	c.C1067G	p.S356C	DDSFLHTVAHNGSPEDGPRVVFIVD	DDSFLHTVAHNGCPEDGPRVVFIVD	5.0	3.0	-	-	2556_16:29917112-29917112 C>G_DDSFLHTVAHNGCPEDGPRVVFIVD
3:142119334-142119334 G>A	1.0	2556	MELANOMA	-	-	-	-	XRN1	uc003eut.3,p.P720L|NM_001282857,p.P720L|ENST00000264951,p.P720L|ENST00000392981,p.P720L|NM_019001,p.P720L|uc010huu.3,p.P186L|uc003eus.3,p.P720L|uc003euv.1,p.P581L|uc003euu.3,p.P720L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010huu.3	nonsynonymous SNV	exon5	c.C557T	p.P186L	SSVLGKSVFVNWPHLEEARVVAVSD	SSVLGKSVFVNWLHLEEARVVAVSD	9.0	6.0	-	-	2556_3:142119334-142119334 G>A_SSVLGKSVFVNWLHLEEARVVAVSD
20:15412056-15412056 C>T	1.0	2556	MELANOMA	-	-	-	-	MACROD2	ENST00000310348,p.P183S|ENST00000217246,p.P183S|NM_080676,p.P183S|uc002wou.3,p.P183S|uc002wot.3,p.P183S	protein_coding, processed_transcript	uc002wou.3	nonsynonymous SNV	exon7	c.C547T	p.P183S	LVKENNIRSVAFPCISTGIYGFPNE	LVKENNIRSVAFSCISTGIYGFPNE	5.0	6.0	-	-	2556_20:15412056-15412056 C>T_LVKENNIRSVAFSCISTGIYGFPNE
15:23892642-23892642 G>A	0.0	2556	MELANOMA	-	-	-	-	MAGEL2	NM_019066,p.P83L|uc001ywj.4,p.P83L	protein_coding	uc001ywj.4	nonsynonymous SNV	exon1	c.C248T	p.P83L	QLPAPVVPMTQPPALGGPIVPAPPL	QLPAPVVPMTQPLALGGPIVPAPPL	5.0	5.0	-	-	2556_15:23892642-23892642 G>A_QLPAPVVPMTQPLALGGPIVPAPPL
1:177906522-177906522 G>A	1.0	2556	MELANOMA	-	-	-	-	SEC16B	uc001glk.1,p.P454L|NM_033127,p.P777L|ENST00000308284,p.P777L|uc001gli.1,p.P777L|uc001glh.1,p.P436L|uc001glj.1,p.P778L|uc009wwz.1,p.P436L|uc009wwy.1,p.P332L	retained_intron, protein_coding, processed_transcript	uc009wwz.1	nonsynonymous SNV	exon18	c.C1307T	p.P436L	TCLLQPSPQQPFPLQPGSYPAGGGA	TCLLQPSPQQPFLLQPGSYPAGGGA	4.0	8.0	-	-	2556_1:177906522-177906522 G>A_TCLLQPSPQQPFLLQPGSYPAGGGA
X:73740836-73740836 G>A	1.0	2556	MELANOMA	-	-	-	-	SLC16A2	ENST00000587091,p.A148T|uc031tjy.1,p.A148T|NM_006517,p.A148T|ENST00000276033,p.A222T	protein_coding	uc031tjy.1	nonsynonymous SNV	exon2	c.G442A	p.A148T	NRQVEFQAAWVGALAMGMIFFCSPI	NRQVEFQAAWVGTLAMGMIFFCSPI	5.0	4.0	-	-	2556_X:73740836-73740836 G>A_NRQVEFQAAWVGTLAMGMIFFCSPI
7:142723372-142723372 G>A	0.0	2556	MELANOMA	-	-	-	-	OR9A2	ENST00000350513,p.P283L|NM_001001658,p.P283L|uc003wcc.1,p.P283L	protein_coding	uc003wcc.1	nonsynonymous SNV	exon1	c.C848T	p.P283L	SLLVSVLTPFLNPFIFTLRNDKVKE	SLLVSVLTPFLNLFIFTLRNDKVKE	2.0	1.0	unscreened	-	2556_7:142723372-142723372 G>A_SLLVSVLTPFLNLFIFTLRNDKVKE
16:74497265-74497265 G>A	1.0	2556	MELANOMA	-	-	-	-	GLG1	NM_012201,p.T927I|uc002fcz.4,p.T344I|uc002fcx.3,p.T927I|NM_001145666,p.T916I|uc002fcy.4,p.T927I|ENST00000205061,p.T927I|uc002fcw.4,p.T916I|ENST00000447066,p.T916I|NM_001145667,p.T927I|ENST00000422840,p.T927I	retained_intron, protein_coding, nonsense_mediated_decay	uc002fcz.4	nonsynonymous SNV	exon15	c.C1031T	p.T344I	PKCKQMITKRQITQNTDYRLNPMLR	PKCKQMITKRQIIQNTDYRLNPMLR	9.0	3.0	-	-	2556_16:74497265-74497265 G>A_PKCKQMITKRQIIQNTDYRLNPMLR
12:123346045-123346045 C>T	1.0	2556	MELANOMA	-	-	-	-	HIP1R	uc001udj.1,p.P1048L|ENST00000253083,p.P1048L|NM_003959,p.P1048L	retained_intron, protein_coding, processed_transcript	uc001udj.1	nonsynonymous SNV	exon31	c.C3143T	p.P1048L	KKPPLAQKPSVAPRQDHQLDKKDGI	KKPPLAQKPSVALRQDHQLDKKDGI	7.0	2.0	unscreened	-	2556_12:123346045-123346045 C>T_KKPPLAQKPSVALRQDHQLDKKDGI
5:140711683-140711683 G>A	1.0	2556	MELANOMA	-	-	-	-	PCDHGA1	uc011dan.2,p.D478N|ENST00000378105,p.D478N|uc003lji.2,p.D478N|NM_018912,p.D478N|NM_031993,p.D478N|ENST00000517417,p.D478N	protein_coding	uc011dan.2	nonsynonymous SNV	exon1	c.G1432A	p.D478N	PRGASIFSVRAHDLDSNENAQITYS	PRGASIFSVRAHNLDSNENAQITYS	5.0	8.0	-	-	2556_5:140711683-140711683 G>A_PRGASIFSVRAHNLDSNENAQITYS
7:20762696-20762696 G>A	0.0	2556	MELANOMA	-	-	-	-	ABCB5	ENST00000404938,p.V827I|uc003suw.4,p.V382I|ENST00000258738,p.V382I|uc010kuh.3,p.V827I|NM_001163941,p.V827I|NM_178559,p.V382I	protein_coding, processed_transcript, nonsense_mediated_decay	uc010kuh.3	nonsynonymous SNV	exon21	c.G2479A	p.V827I	VLTQNATNMGLSVIISFIYGWEMTF	VLTQNATNMGLSIIISFIYGWEMTF	9.0	10.0	unscreened	-	2556_7:20762696-20762696 G>A_VLTQNATNMGLSIIISFIYGWEMTF
22:50886733-50886733 G>-	1.0	2556	MELANOMA	-	-	-	-	SBF1	ENST00000348911,p.G1739fs|ENST00000390679,p.G1738fs|NM_002972,p.G1764fs|uc003blh.3,p.G1764fs|ENST00000380817,p.G1764fs|uc011arx.2,p.G1402fs|uc003ble.3,p.G228fs	retained_intron, protein_coding, processed_transcript	uc011arx.2	frameshift deletion	exon31	c.4206delC	p.G1402fs	LDSDQSSGSTTSGSRQAARRSTSTL	LDSDQSSGSTTSGPVRLPAAAPAPCTASSRQQRVRTGPTRALCTRRGPS	7.0	1.0	unscreened	-	2556_22:50886733-50886733 G>-_LDSDQSSGSTTSGPVRLPAAAPAPCTASSRQQRVRTGPTRALCTRRGPS
2:235950399-235950399 C>T	1.0	2556	MELANOMA	-	-	-	-	SH3BP4	uc002vvp.3,p.A329V|ENST00000409212,p.A329V|uc002vvq.3,p.A329V|uc010fym.3,p.A329V|ENST00000392011,p.A329V|ENST00000344528,p.A329V|NM_014521,p.A329V	protein_coding, processed_transcript	uc010fym.3	nonsynonymous SNV	exon4	c.C986T	p.A329V	TNIVCKLDSSGGAVQLPDTSISIHV	TNIVCKLDSSGGVVQLPDTSISIHV	8.0	7.0	-	-	2556_2:235950399-235950399 C>T_TNIVCKLDSSGGVVQLPDTSISIHV
17:37342761-37342761 G>A	1.0	2556	MELANOMA	-	-	-	-	CACNB1	NM_199247,p.P206S|uc002hro.3,p.P206S|ENST00000344140,p.P206S	retained_intron, protein_coding, processed_transcript	uc002hro.3	nonsynonymous SNV	exon6	c.C616T	p.P206S	LGDVVTGTRRPTPPASGNEMTNLAF	LGDVVTGTRRPTSPASGNEMTNLAF	5.0	5.0	unscreened	-	2556_17:37342761-37342761 G>A_LGDVVTGTRRPTSPASGNEMTNLAF
5:140580161-140580161 G>A	1.0	2556	MELANOMA	-	-	-	-	PCDHB11	uc003liy.3,p.G272R|NM_018931,p.G272R|ENST00000354757,p.G272R	protein_coding	uc003liy.3	nonsynonymous SNV	exon1	c.G814A	p.G272R	LILIVSAWDLDSGTNGEICYTFSHA	LILIVSAWDLDSRTNGEICYTFSHA	5.0	6.0	-	-	2556_5:140580161-140580161 G>A_LILIVSAWDLDSRTNGEICYTFSHA
20:9360708-9360708 G>A	1.0	2556	MELANOMA	-	-	ID=COSM107774;OCCURENCE=1(skin)	-	PLCB4	ENST00000278655,p.R251Q|uc002wnh.3,p.R98Q|uc021wam.1,p.R251Q|ENST00000414679,p.R251Q|ENST00000378501,p.R251Q|ENST00000378493,p.R251Q|uc010gbw.1,p.R251Q|uc010gbx.3,p.R251Q|NM_182797,p.R251Q|NM_001172646,p.R251Q|NM_000933,p.R251Q|uc021wal.1,p.R251Q|ENST00000378473,p.R251Q|ENST00000334005,p.R251Q	protein_coding, processed_transcript	uc021wam.1	nonsynonymous SNV	exon10	c.G752A	p.R251Q	VDQLVSFLNEHQRDPRLNEILFPFY	VDQLVSFLNEHQQDPRLNEILFPFY	7.0	7.0	-	-	2556_20:9360708-9360708 G>A_VDQLVSFLNEHQQDPRLNEILFPFY
5:41065478-41065478 C>T	0.0	2556	MELANOMA	-	-	ID=COSM3828085;OCCURENCE=1(breast)	-	MROH2B	ENST00000399564,p.D106N|uc021xxt.1,p.D106N|uc003jmj.4,p.D106N|NM_173489,p.D106N	retained_intron, protein_coding	uc021xxt.1	nonsynonymous SNV	exon4	c.G316A	p.D106N	EVQSNFRILELPDEFVVLALAELAT	EVQSNFRILELPNEFVVLALAELAT	1.0	2.0	unscreened	-	2556_5:41065478-41065478 C>T_EVQSNFRILELPNEFVVLALAELAT
4:54966711-54966711 C>G	0.0	2556	MELANOMA	-	-	-	-	GSX2	ENST00000503800,p.S67W|NM_133267,p.S67W|uc010igp.1,p.S67W|ENST00000326902,p.S67W	protein_coding, processed_transcript	uc010igp.1	nonsynonymous SNV	exon1	c.C200G	p.S67W	SGAFCVCPLCVTSHLHSSRGSVGAG	SGAFCVCPLCVTWHLHSSRGSVGAG	1.0	9.0	unscreened	-	2556_4:54966711-54966711 C>G_SGAFCVCPLCVTWHLHSSRGSVGAG
8:54742068-54742068 A>C	1.0	2556	MELANOMA	-	-	-	-	ATP6V1H	ENST00000359530,p.M81R|ENST00000521275,p.M81R|ENST00000396774,p.M81R|uc003xrm.4,p.M81R|uc003xrk.4,p.M41R|NM_015941,p.M81R|ENST00000524234,p.M81R|uc010lyd.4,p.M17R|ENST00000520188,p.M41R|NM_213619,p.M81R|NM_213620,p.M81R|uc003xrl.4,p.M81R|ENST00000355221,p.M81R|uc003xrn.4,p.M81R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lyd.4	nonsynonymous SNV	exon4	c.T50G	p.M17R	EGSQCAKTFINLMTHICKEQTVQYI	EGSQCAKTFINLRTHICKEQTVQYI	10.0	8.0	-	-	2556_8:54742068-54742068 A>C_EGSQCAKTFINLRTHICKEQTVQYI
5:92929532-92929532 C>T	1.0	2556	MELANOMA	-	-	-	-	NR2F1	uc003kkj.3,p.S419F|NM_005654,p.S419F|uc021ybj.1,p.S368F|ENST00000327111,p.S419F|uc021ybk.1,p.S394F	protein_coding, processed_transcript	uc021ybk.1	nonsynonymous SNV	exon4	c.C1181T	p.S394F	LLSGSSFNWPYMSIQCS	LLSGSSFNWPYMFIQCS	5.0	7.0	-	-	2556_5:92929532-92929532 C>T_LLSGSSFNWPYMFIQCS
5:142283172-142283172 C>T	1.0	2556	MELANOMA	-	-	-	1	ARHGAP26	NM_001135608,p.P257L|uc003lmw.3,p.P257L|uc011dbj.2,p.P257L|NM_015071,p.P257L|ENST00000378004,p.P257L|uc003lmt.3,p.P257L|ENST00000274498,p.P257L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dbj.2	nonsynonymous SNV	exon8	c.C770T	p.P257L	EVESLMKKMKENPLEHKTISPYTME	EVESLMKKMKENLLEHKTISPYTME	6.0	1.0	unscreened	-	2556_5:142283172-142283172 C>T_EVESLMKKMKENLLEHKTISPYTME
7:8099825-8099825 G>A	1.0	2556	MELANOMA	-	-	-	-	GLCCI1	ENST00000414914,p.E163K|ENST00000223145,p.E305K|NM_138426,p.E305K|uc003srk.4,p.E305K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003srk.4	nonsynonymous SNV	exon5	c.G913A	p.E305K	SRVPCNVEGISPELEKVFIKENNGK	SRVPCNVEGISPKLEKVFIKENNGK	6.0	1.0	unscreened	-	2556_7:8099825-8099825 G>A_SRVPCNVEGISPKLEKVFIKENNGK
3:121207970-121207970 G>A	1.0	2556	MELANOMA	-	-	-	1	POLQ	uc003eed.3,p.P442S|uc003eee.4,p.P1270S|NM_199420,p.P1270S|ENST00000264233,p.P1270S	protein_coding, processed_transcript	uc003eee.4	nonsynonymous SNV	exon16	c.C3808T	p.P1270S	DISRTVIPSEVLPSAGAFSKSEGQH	DISRTVIPSEVLSSAGAFSKSEGQH	6.0	7.0	-	-	2556_3:121207970-121207970 G>A_DISRTVIPSEVLSSAGAFSKSEGQH
15:43748417-43748417 G>A	1.0	2556	MELANOMA	-	-	-	-	TP53BP1	ENST00000413546,p.P797S|uc001zrs.3,p.P792S|ENST00000382044,p.P797S|ENST00000263801,p.P792S|uc010udp.2,p.P792S|NM_005657,p.P792S|uc001zrq.4,p.P797S|uc001zrr.4,p.P797S|ENST00000450115,p.P797S|ENST00000382039,p.P797S|uc010udq.1,p.P797S|NM_001141980,p.P797S|NM_001141979,p.P797S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010udq.1	nonsynonymous SNV	exon12	c.C2389T	p.P797S	KCSDSQSWEDIAPEIEPCAENRLDT	KCSDSQSWEDIASEIEPCAENRLDT	9.0	7.0	-	-	2556_15:43748417-43748417 G>A_KCSDSQSWEDIASEIEPCAENRLDT
6:7585866-7585866 C>T	1.0	2556	MELANOMA	-	-	-	-	DSP	uc003mxq.1,p.R2192C|ENST00000379802,p.R2791C|uc021yle.1,p.R2348C|NM_001008844,p.R2192C|ENST00000418664,p.R2192C|NM_004415,p.R2791C|uc003mxp.1,p.R2791C	retained_intron, protein_coding	uc021yle.1	nonsynonymous SNV	exon24	c.C7042T	p.R2348C	TKLKISYKDAINRSMVEDITGLRLL	TKLKISYKDAINCSMVEDITGLRLL	7.0	4.0	-	-	2556_6:7585866-7585866 C>T_TKLKISYKDAINCSMVEDITGLRLL
13:67799592-67799592 G>A	1.0	2556	MELANOMA	-	-	-	-	PCDH9	uc001vik.3,p.S994L|ENST00000328454,p.S994L|ENST00000377865,p.S994L|uc010thl.2,p.S994L|ENST00000377861,p.S994L|uc001vin.3,p.S994L|NM_020403,p.S994L|ENST00000456367,p.S994L|NM_203487,p.S994L|uc001vil.3,p.S994L|ENST00000544246,p.S994L	protein_coding	uc010thl.2	nonsynonymous SNV	exon2	c.C2981T	p.S994L	KRSSTSSDHFSASECSSQGGFKTKG	KRSSTSSDHFSALECSSQGGFKTKG	7.0	6.0	-	-	2556_13:67799592-67799592 G>A_KRSSTSSDHFSALECSSQGGFKTKG
1:120266046-120266046 T>A	0.0	2556	MELANOMA	-	-	-	-	PHGDH	ENST00000369407,p.M79K|uc001ehz.3,p.M113K|ENST00000369409,p.M113K|NM_006623,p.M113K|uc001eib.3,p.M79K	protein_coding, processed_transcript	uc001eib.3	nonsynonymous SNV	exon2	c.T236A	p.M79K	GNSLSAAELTCGMIMCLARQIPQAT	GNSLSAAELTCGKIMCLARQIPQAT	10.0	1.0	unscreened	-	2556_1:120266046-120266046 T>A_GNSLSAAELTCGKIMCLARQIPQAT
5:149429853-149429853 T>G	1.0	2556	MELANOMA	-	-	-	-	HMGXB3	ENST00000502717,p.S1080R|NM_014983,p.S1080R|ENST00000503427,p.S1048R|uc003lrk.4,p.S1080R	retained_intron, protein_coding, nonsense_mediated_decay	uc003lrk.4	nonsynonymous SNV	exon19	c.T3240G	p.S1080R	VVCGSKYLVRGESARDHVDLLASSR	VVCGSKYLVRGERARDHVDLLASSR	9.0	5.0	-	-	2556_5:149429853-149429853 T>G_VVCGSKYLVRGERARDHVDLLASSR
8:98703395-98703395 C>T	1.0	2556	MELANOMA	-	-	ID=COSM1102809;OCCURENCE=1(endometrium)	-	MTDH	ENST00000519934,p.R320C	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000519934	nonsynonymous SNV	exon6	c.C958T	p.R320C	TNGKDWGRSWSDRSIFSGIDGLSSA	TNGKDWGRSWSDCSIFSGIDGLSSA	10.0	9.0	unscreened	-	2556_8:98703395-98703395 C>T_TNGKDWGRSWSDCSIFSGIDGLSSA
3:172070635-172070635 C>T	1.0	2556	MELANOMA	-	-	-	-	FNDC3B	ENST00000336824,p.L853F|NM_001135095,p.L853F|ENST00000416957,p.L853F|uc003fhy.3,p.L853F|ENST00000415807,p.L853F|NM_022763,p.L853F|uc003fhz.4,p.L853F	retained_intron, protein_coding, processed_transcript	uc003fhz.4	nonsynonymous SNV	exon22	c.C2557T	p.L853F	NQAGAGPYSELVLCQTPASAPDPVS	NQAGAGPYSELVFCQTPASAPDPVS	10.0	7.0	-	-	2556_3:172070635-172070635 C>T_NQAGAGPYSELVFCQTPASAPDPVS
11:58034960-58034960 G>A	0.0	2556	MELANOMA	-	-	-	-	OR10W1	NM_207374,p.P124L|uc001nmq.1,p.P124L|ENST00000395079,p.P124L	protein_coding	uc001nmq.1	nonsynonymous SNV	exon1	c.C371T	p.P124L	DRYVAICHPLQYPLLMTLTLCVHLV	DRYVAICHPLQYLLLMTLTLCVHLV	1.0	8.0	unscreened	-	2556_11:58034960-58034960 G>A_DRYVAICHPLQYLLLMTLTLCVHLV
7:111161475-111161475 C>T	1.0	2556	MELANOMA	-	-	-	-	IMMP2L	ENST00000452895,p.R10K|ENST00000452753,p.R10K|uc003vfr.3,p.R10K|NM_001244606,p.R10K|uc010ljr.2,p.R10K|ENST00000447215,p.R10K|ENST00000437687,p.R10K|ENST00000405709,p.R10K|NM_032549,p.R10K|uc003vfq.2,p.R10K|ENST00000331762,p.R10K|ENST00000415362,p.R10K	protein_coding, processed_transcript	uc010ljr.2	nonsynonymous SNV	exon3	c.G29A	p.R10K	MAQSQGWVKRYIKAFCKGFFVA	MAQSQGWVKKYIKAFCKGFFVA	8.0	1.0	unscreened	-	2556_7:111161475-111161475 C>T_MAQSQGWVKKYIKAFCKGFFVA
12:7355295-7355295 A>C	1.0	2556	MELANOMA	-	-	-	-	PEX5	uc009zfu.2,p.I281L|ENST00000434354,p.I296L|ENST00000420616,p.I281L|NM_001131024,p.I244L|NM_001131026,p.I281L|uc001qsu.3,p.I244L|uc001qsw.3,p.I281L|NM_001131025,p.I281L|NM_001300789,p.I302L|ENST00000545574,p.I232L|ENST00000412720,p.I302L|ENST00000266563,p.I244L|NM_001131023,p.I296L|uc010sgd.2,p.I302L|uc010sgc.2,p.I296L|ENST00000455147,p.I281L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sgd.2	nonsynonymous SNV	exon9	c.A904C	p.I302L	ALDMEFERAKSAIESDVDFWDKLQA	ALDMEFERAKSALESDVDFWDKLQA	7.0	9.0	-	-	2556_12:7355295-7355295 A>C_ALDMEFERAKSALESDVDFWDKLQA
11:62760989-62760989 C>T	0.0	2556	MELANOMA	-	-	-	-	SLC22A8	ENST00000535878,p.G356E|ENST00000336232,p.G479E|uc009yon.3,p.G479E|NM_001184736,p.G356E|ENST00000545207,p.G388E|uc009yom.3,p.G356E|NM_001184732,p.G479E|NM_004254,p.G479E|ENST00000311438,p.G479E|uc010rmm.2,p.G388E|ENST00000430500,p.G479E|uc001nwp.2,p.G479E|uc001nwo.3,p.G479E|NM_001184733,p.G388E	retained_intron, protein_coding, processed_transcript	uc010rmm.2	nonsynonymous SNV	exon10	c.G1163A	p.G388E	GEVQPFIPNIIYGITALLGGSAALF	GEVQPFIPNIIYEITALLGGSAALF	1.0	3.0	unscreened	-	2556_11:62760989-62760989 C>T_GEVQPFIPNIIYEITALLGGSAALF
1:46810807-46810807 C>T	1.0	2556	MELANOMA	-	-	-	-	NSUN4	ENST00000307089,p.P143L	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000307089	nonsynonymous SNV	exon2	c.C428T	p.P143L	CFTFDRGDISRFPPARQSCCQ	CFTFDRGDISRFLPARQSCCQ	7.0	5.0	-	-	2556_1:46810807-46810807 C>T_CFTFDRGDISRFLPARQSCCQ
1:159505619-159505619 T>A	0.0	2556	MELANOMA	-	-	-	-	OR10J5	NM_001004469,p.Y60F|ENST00000334857,p.Y60F|uc010piw.2,p.Y60F	protein_coding	uc010piw.2	nonsynonymous SNV	exon1	c.A179T	p.Y60F	IICIDHHLHTPMYFFLSMLASSETV	IICIDHHLHTPMFFFLSMLASSETV	1.0	1.0	unscreened	-	2556_1:159505619-159505619 T>A_IICIDHHLHTPMFFFLSMLASSETV
19:625212-625212 C>T	1.0	2556	MELANOMA	-	-	-	-	POLRMT	uc002lpf.1,p.D289N|NM_005035,p.D289N|ENST00000588649,p.D289N	retained_intron, protein_coding, processed_transcript	uc002lpf.1	nonsynonymous SNV	exon4	c.G865A	p.D289N	FKELVYVLFMVKDAGLTPDLLSYAA	FKELVYVLFMVKNAGLTPDLLSYAA	6.0	4.0	unscreened	-	2556_19:625212-625212 C>T_FKELVYVLFMVKNAGLTPDLLSYAA
19:42231204-42231204 A>C	0.0	2556	MELANOMA	-	-	-	-	CEACAM5	ENST00000405816,p.I693L|ENST00000398599,p.I692L|uc002orl.3,p.I693L|NM_001291484,p.I693L|ENST00000221992,p.I693L|uc002orj.1,p.I692L|NM_004363,p.I693L	retained_intron, protein_coding	uc002orl.3	nonsynonymous SNV	exon9	c.A2077C	p.I693L	PGLSAGATVGIMIGVLVGVALI	PGLSAGATVGIMLGVLVGVALI	1.0	10.0	-	-	2556_19:42231204-42231204 A>C_PGLSAGATVGIMLGVLVGVALI
8:97157581-97157581 G>A	0.0	2556	MELANOMA	-	-	-	-	GDF6	ENST00000287020,p.S193L|uc003yhp.3,p.S193L|NM_001001557,p.S193L	protein_coding	uc003yhp.3	nonsynonymous SNV	exon2	c.C578T	p.S193L	AGPLHVQLFPCLSPLLLDARTLDPQ	AGPLHVQLFPCLLPLLLDARTLDPQ	1.0	8.0	unscreened	-	2556_8:97157581-97157581 G>A_AGPLHVQLFPCLLPLLLDARTLDPQ
19:52272677-52272677 C>T	0.0	2556	MELANOMA	-	-	-	-	FPR2	ENST00000598953,p.P256S|NM_001462,p.P256S|ENST00000340023,p.P256S|uc021uyp.1,p.P256S|uc010epf.3,p.P256S|uc002pxr.3,p.P256S|NM_001005738,p.P256S|uc002pxs.4,p.P256S|ENST00000598776,p.P256S	protein_coding	uc021uyp.1	nonsynonymous SNV	exon1	c.C766T	p.P256S	TAVVASFFICWFPFQLVALLGTVWL	TAVVASFFICWFSFQLVALLGTVWL	1.0	4.0	unscreened	-	2556_19:52272677-52272677 C>T_TAVVASFFICWFSFQLVALLGTVWL
19:45317966-45317966 G>A	1.0	2556	MELANOMA	-	-	-	-	BCAM	uc002ozu.4,p.D343N|NM_005581,p.D343N|ENST00000270233,p.D343N|NM_001013257,p.D343N|uc002ozt.2,p.D343N|ENST00000391955,p.D343N	retained_intron, protein_coding, nonsense_mediated_decay	uc002ozu.4	nonsynonymous SNV	exon8	c.G1027A	p.D343N	QSGTYGCRVEDYDAADDVQLSKTLE	QSGTYGCRVEDYNAADDVQLSKTLE	6.0	1.0	-	-	2556_19:45317966-45317966 G>A_QSGTYGCRVEDYNAADDVQLSKTLE
14:51561651-51561651 C>T	1.0	2556	MELANOMA	-	-	-	-	TRIM9	NM_052978,p.E3K|uc001wyx.4,p.E3K|uc001wyy.2,p.E3K|ENST00000360392,p.E3K|uc001wyz.4,p.E3K|NM_015163,p.E3K|ENST00000298355,p.E3K|ENST00000338969,p.E3K	retained_intron, protein_coding, processed_transcript	uc001wyz.4	nonsynonymous SNV	exon1	c.G7A	p.E3K	MEEMEEELKCPVCGS	MEKMEEELKCPVCGS	8.0	10.0	-	-	2556_14:51561651-51561651 C>T_MEKMEEELKCPVCGS
7:100551488-100551488 C>T	0.0	2556	MELANOMA	-	-	-	-	MUC3A	ENST00000319509,p.S80L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000319509	nonsynonymous SNV	exon1	c.C239T	p.S80L	DISTLPTRTHIISSSPSIQSTETSS	DISTLPTRTHIILSSPSIQSTETSS	3.0	1.0	unscreened	-	2556_7:100551488-100551488 C>T_DISTLPTRTHIILSSPSIQSTETSS
19:16025188-16025188 G>A	0.0	2556	MELANOMA	-	-	-	-	CYP4F11	NM_021187,p.P442S|NM_001128932,p.P442S|uc002nbt.2,p.P442S|ENST00000248041,p.P442S|uc002nbu.2,p.P442S|ENST00000402119,p.P442S	retained_intron, protein_coding	uc002nbu.2	nonsynonymous SNV	exon12	c.C1324T	p.P442S	NPTVWPDPEVYDPFRFDQENIKERS	NPTVWPDPEVYDSFRFDQENIKERS	5.0	2.0	unscreened	-	2556_19:16025188-16025188 G>A_NPTVWPDPEVYDSFRFDQENIKERS
2:232880368-232880368 G>T	1.0	2556	MELANOMA	-	-	-	-	DIS3L2	NM_152383,p.G66V|ENST00000409307,p.G66V|uc010fxz.3,p.G66V|NM_001257282,p.G66V|ENST00000409401,p.G66V|ENST00000441279,p.G66V|ENST00000390005,p.G66V|ENST00000273009,p.G66V|uc031rrt.1,p.G66V|ENST00000360410,p.G66V|ENST00000433430,p.G66V|ENST00000325385,p.G66V|NM_001257281,p.G66V|ENST00000445090,p.G66V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rrt.1	nonsynonymous SNV	exon3	c.G197T	p.G66V	MSKEDVSEGLKRGTLIQGVLRINPK	MSKEDVSEGLKRVTLIQGVLRINPK	7.0	6.0	-	-	2556_2:232880368-232880368 G>T_MSKEDVSEGLKRVTLIQGVLRINPK
11:55927717-55927717 G>A	0.0	2556	MELANOMA	-	-	-	-	OR8K5	ENST00000313447,p.P26L|uc010rja.2,p.P26L|NM_001004058,p.P26L	protein_coding	uc010rja.2	nonsynonymous SNV	exon1	c.C77T	p.P26L	LMELTRRPELQIPLFGVFLVIYLIT	LMELTRRPELQILLFGVFLVIYLIT	1.0	10.0	unscreened	-	2556_11:55927717-55927717 G>A_LMELTRRPELQILLFGVFLVIYLIT
1:234454596-234454596 C>T	0.0	2556	MELANOMA	-	-	-	-	SLC35F3	NM_001300845,p.P283S|ENST00000366617,p.P283S|NM_173508,p.P352S|uc001hwa.1,p.P283S|ENST00000366618,p.P352S|uc001hvy.1,p.P352S	protein_coding	uc001hwa.1	nonsynonymous SNV	exon5	c.C847T	p.P283S	LGVFNILFITCIPIILYFTKVEYWS	LGVFNILFITCISIILYFTKVEYWS	1.0	8.0	unscreened	-	2556_1:234454596-234454596 C>T_LGVFNILFITCISIILYFTKVEYWS
7:132070039-132070039 G>A	0.0	2556	MELANOMA	-	-	-	-	PLXNA4	ENST00000423507,p.L463F|uc003vrc.2,p.L463F|NM_001105543,p.L463F	retained_intron, protein_coding	uc003vrc.2	nonsynonymous SNV	exon4	c.C1387T	p.L463F	KSGKLKKMPGTSLCPTLELQTGPRS	KSGKLKKMPGTSFCPTLELQTGPRS	2.0	5.0	unscreened	-	2556_7:132070039-132070039 G>A_KSGKLKKMPGTSFCPTLELQTGPRS
1:23219483-23219483 C>T	1.0	2556	MELANOMA	-	-	ID=COSM131753;OCCURENCE=1(skin)	-	EPHB2	ENST00000374627,p.T507I|ENST00000400191,p.T512I|ENST00000374632,p.T512I|NM_004442,p.T512I|uc001bgf.3,p.T512I|uc009vqj.1,p.T512I|NM_017449,p.T512I|uc001bge.3,p.T512I|uc010odu.2,p.T512I|ENST00000374630,p.T512I	protein_coding, processed_transcript	uc010odu.2	nonsynonymous SNV	exon8	c.C1535T	p.T512I	AGAIYVFQVRARTVAGYGRYSGKMY	AGAIYVFQVRARIVAGYGRYSGKMY	5.0	3.0	-	-	2556_1:23219483-23219483 C>T_AGAIYVFQVRARIVAGYGRYSGKMY
3:194346658-194346658 G>A	1.0	2556	MELANOMA	-	-	-	-	TMEM44	uc003fue.3,p.P109L|uc010hzn.3,p.P109L|NM_001011655,p.P109L|ENST00000473092,p.P109L|uc011bsv.2,p.P109L|ENST00000273580,p.P109L|NM_001166306,p.P109L|ENST00000392432,p.P109L|uc003fuf.3,p.P109L|NM_001166305,p.P109L|ENST00000347147,p.P109L|NM_138399,p.P109L|ENST00000381975,p.P109L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bsv.2	nonsynonymous SNV	exon3	c.C326T	p.P109L	AIDLVNFMFILFPVCGSKFKSNSDR	AIDLVNFMFILFLVCGSKFKSNSDR	6.0	2.0	-	-	2556_3:194346658-194346658 G>A_AIDLVNFMFILFLVCGSKFKSNSDR
10:135003120-135003120 C>T	0.0	2556	MELANOMA	-	-	-	-	KNDC1	uc001llz.1,p.S487F|ENST00000368571,p.S422F|uc001lma.1,p.S422F|ENST00000304613,p.S487F|ENST00000368572,p.S487F|NM_152643,p.S487F	retained_intron, protein_coding, processed_transcript	uc001lma.1	nonsynonymous SNV	exon7	c.C1265T	p.S422F	TRPEHPAYLCLDSVLVAEDGAVLFQ	TRPEHPAYLCLDFVLVAEDGAVLFQ	4.0	4.0	unscreened	-	2556_10:135003120-135003120 C>T_TRPEHPAYLCLDFVLVAEDGAVLFQ
11:5758624-5758624 C>T	0.0	2556	MELANOMA	-	-	-	-	OR56B1	NM_001005180,p.P293L|ENST00000317121,p.P293L|uc001mbt.2,p.P293L	protein_coding	uc001mbt.2	nonsynonymous SNV	exon1	c.C878T	p.P293L	PVLLNVLHNIIPPSLNPTVYALQTK	PVLLNVLHNIIPLSLNPTVYALQTK	1.0	3.0	unscreened	-	2556_11:5758624-5758624 C>T_PVLLNVLHNIIPLSLNPTVYALQTK
5:140174800-140174800 T>G	0.0	2556	MELANOMA	-	-	-	-	PCDHA2	uc003lhd.2,p.L84W|NM_031496,p.L84W|ENST00000378132,p.L84W|NM_031495,p.L84W|ENST00000520672,p.L84W|uc003lhc.1,p.L84W|ENST00000526136,p.L84W|uc011czy.2,p.L84W|NM_018905,p.L84W	protein_coding	uc011czy.2	nonsynonymous SNV	exon1	c.T251G	p.L84W	GDLLEVNLQNGILFVNSRIDREELC	GDLLEVNLQNGIWFVNSRIDREELC	2.0	7.0	unscreened	-	2556_5:140174800-140174800 T>G_GDLLEVNLQNGIWFVNSRIDREELC
13:28143271-28143271 C>T	1.0	2556	MELANOMA	-	-	-	-	LNX2	uc001url.4,p.G184S|NM_153371,p.G184S|uc001urm.1,p.G184S|ENST00000316334,p.G184S	protein_coding	uc001urm.1	nonsynonymous SNV	exon3	c.G550A	p.G184S	GTLSPEADCLGTGAVPVERHLTSAS	GTLSPEADCLGTSAVPVERHLTSAS	7.0	8.0	-	-	2556_13:28143271-28143271 C>T_GTLSPEADCLGTSAVPVERHLTSAS
4:187171498-187171498 C>T	0.0	2556	MELANOMA	-	-	-	-	KLKB1	NM_000892,p.H234Y|ENST00000513864,p.H234Y|uc011cld.2,p.H196Y|uc003iyy.3,p.H234Y|ENST00000264690,p.H234Y	retained_intron, protein_coding	uc011cld.2	nonsynonymous SNV	exon8	c.C586T	p.H196Y	PDAFVCRTICTYHPNCLFFTFYTNV	PDAFVCRTICTYYPNCLFFTFYTNV	3.0	4.0	unscreened	-	2556_4:187171498-187171498 C>T_PDAFVCRTICTYYPNCLFFTFYTNV
12:101381399-101381399 G>A	1.0	2556	MELANOMA	-	-	-	-	ANO4	ENST00000392979,p.E194K|uc010svm.1,p.E229K|uc001thx.2,p.E229K|NM_178826,p.E194K|ENST00000392977,p.E229K|NM_001286616,p.E229K|NM_001286615,p.E229K|uc001thw.2,p.E194K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010svm.1	nonsynonymous SNV	exon8	c.G685A	p.E229K	PMRLDKETLPDLEENDCYTAPFSQQ	PMRLDKETLPDLKENDCYTAPFSQQ	6.0	10.0	-	-	2556_12:101381399-101381399 G>A_PMRLDKETLPDLKENDCYTAPFSQQ
19:10398698-10398698 C>T	0.0	2556	MELANOMA	-	-	-	-	ICAM4	uc002mns.2,p.S245F|ENST00000380770,p.S245F|NM_001544,p.S245F	protein_coding	uc002mns.2	nonsynonymous SNV	exon3	c.C734T	p.S245F	AWSPAPTALASGSIAALVGILLTVG	AWSPAPTALASGFIAALVGILLTVG	3.0	4.0	-	-	2556_19:10398698-10398698 C>T_AWSPAPTALASGFIAALVGILLTVG
1:159683874-159683874 G>A	0.0	2556	MELANOMA	-	-	ID=COSM529827;OCCURENCE=1(lung)	-	CRP	ENST00000368110,p.S39F|ENST00000368111,p.S39F|ENST00000368112,p.S39F|ENST00000343919,p.S39F|ENST00000255030,p.S39F|uc001ftx.1,p.S39F|uc001ftw.3,p.S39F|NM_000567,p.S39F	protein_coding, processed_transcript	uc001ftx.1	nonsynonymous SNV	exon2	c.C116T	p.S39F	FVFPKESDTSYVSLKAPLTKPLKAF	FVFPKESDTSYVFLKAPLTKPLKAF	1.0	1.0	unscreened	-	2556_1:159683874-159683874 G>A_FVFPKESDTSYVFLKAPLTKPLKAF
3:169644507-169644507 C>T	0.0	2556	MELANOMA	-	-	-	-	SAMD7	NM_182610,p.H153Y|uc011bpo.2,p.H54Y|ENST00000428432,p.H153Y|uc003fgd.3,p.H153Y|ENST00000335556,p.H153Y|uc003fge.3,p.H153Y	protein_coding, nonsense_mediated_decay	uc011bpo.2	nonsynonymous SNV	exon6	c.C160T	p.H54Y	GRSMLPAGDLHFHRSTLRNLQGNPM	GRSMLPAGDLHFYRSTLRNLQGNPM	1.0	6.0	unscreened	-	2556_3:169644507-169644507 C>T_GRSMLPAGDLHFYRSTLRNLQGNPM
20:50238618-50238618 G>A	1.0	2556	MELANOMA	-	-	-	-	ATP9A	uc002xwg.1,p.R704W|uc010gih.1,p.R568W|NM_006045,p.R704W|ENST00000338821,p.R704W|ENST00000311637,p.R568W|ENST00000402822,p.R583W	protein_coding, processed_transcript	uc010gih.1	nonsynonymous SNV	exon14	c.C1702T	p.R568W	HLVTRNQDIHVFRLVTNRGEAHLEL	HLVTRNQDIHVFWLVTNRGEAHLEL	8.0	7.0	-	-	2556_20:50238618-50238618 G>A_HLVTRNQDIHVFWLVTNRGEAHLEL
12:80889841-80889841 C>T	0.0	2556	MELANOMA	-	-	-	-	PTPRQ	ENST00000266688,p.S645F	retained_intron, protein_coding, processed_transcript	ENST00000266688	nonsynonymous SNV	exon18	c.C1934T	p.S645F	MRVAASTHVGESSLSEENDIFVRTS	MRVAASTHVGESFLSEENDIFVRTS	1.0	8.0	unscreened	-	2556_12:80889841-80889841 C>T_MRVAASTHVGESFLSEENDIFVRTS
17:81006583-81006583 C>T	1.0	2556	MELANOMA	-	-	-	-	B3GNTL1	ENST00000571218,p.G47R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000571218	nonsynonymous SNV	exon2	c.G139A	p.G47R	ECLRSVLQQDFEGQVWGYH	ECLRSVLQQDFERQVWGYH	6.0	7.0	unscreened	-	2556_17:81006583-81006583 C>T_ECLRSVLQQDFERQVWGYH
8:98703395-98703395 C>T	1.0	2556	MELANOMA	-	-	ID=COSM1102809;OCCURENCE=1(endometrium)	-	MTDH	ENST00000521933,p.R13C|ENST00000336273,p.R343C|NM_178812,p.R343C|uc003yhz.3,p.R343C	retained_intron, protein_coding, nonsense_mediated_decay	uc003yhz.3	nonsynonymous SNV	exon6	c.C1027T	p.R343C	TNGKDWGRSWSDRSIFSGIGSTAEP	TNGKDWGRSWSDCSIFSGIGSTAEP	10.0	9.0	-	-	2556_8:98703395-98703395 C>T_TNGKDWGRSWSDCSIFSGIGSTAEP
4:175897377-175897377 C>T	0.0	2556	MELANOMA	-	-	ID=COSM142145;OCCURENCE=1(skin)	-	ADAM29	uc011cki.2,p.S234F|NM_001278125,p.S234F|uc010irr.3,p.S234F|uc003iud.3,p.S234F|NM_001130704,p.S234F|uc031shu.1,p.S234F|NM_001130703,p.S234F|NM_014269,p.S234F|uc031shw.1,p.S234F|NM_001130705,p.S234F|uc003iuc.3,p.S234F|uc031shv.1,p.S234F|NM_001278127,p.S234F|ENST00000445694,p.S234F|ENST00000514159,p.S234F|ENST00000404450,p.S234F|NM_001278126,p.S234F|uc021xuo.1,p.S234F|ENST00000359240,p.S234F	retained_intron, protein_coding, processed_transcript	uc031shw.1	nonsynonymous SNV	exon2	c.C701T	p.S234F	LEDLYVIVNIVDSILDVIGVKVLLF	LEDLYVIVNIVDFILDVIGVKVLLF	1.0	10.0	unscreened	-	2556_4:175897377-175897377 C>T_LEDLYVIVNIVDFILDVIGVKVLLF
15:78486316-78486316 G>A	0.0	2556	MELANOMA	-	-	-	-	ACSBG1	NM_001199377,p.S163F|uc010umw.2,p.S163F|uc002bdh.3,p.S167F|uc010umy.2,p.S60F|ENST00000559241,p.S175F|NM_015162,p.S167F|ENST00000558130,p.S163F|ENST00000258873,p.S167F|ENST00000559114,p.S60F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010umy.2	nonsynonymous SNV	exon3	c.C179T	p.S60F	KQAHSVAILGFNSPEWFFSAVGTVF	KQAHSVAILGFNFPEWFFSAVGTVF	3.0	3.0	-	-	2556_15:78486316-78486316 G>A_KQAHSVAILGFNFPEWFFSAVGTVF
1:152058104-152058104 G>A	0.0	2556	MELANOMA	-	-	-	-	TCHHL1	NM_001008536,p.S685F|ENST00000368806,p.S685F|uc001ezo.1,p.S685F	protein_coding	uc001ezo.1	nonsynonymous SNV	exon3	c.C2054T	p.S685F	TGALDEDFTDQLSLMQLPGKGDSRN	TGALDEDFTDQLFLMQLPGKGDSRN	1.0	10.0	unscreened	-	2556_1:152058104-152058104 G>A_TGALDEDFTDQLFLMQLPGKGDSRN
1:216498675-216498675 G>A	0.0	2556	MELANOMA	-	-	-	-	USH2A	uc001hku.1,p.S372L|uc001hkv.3,p.S372L|ENST00000366942,p.S372L|NM_007123,p.S372L|ENST00000307340,p.S372L|NM_206933,p.S372L|ENST00000366943,p.S372L	retained_intron, protein_coding	uc001hkv.3	nonsynonymous SNV	exon6	c.C1115T	p.S372L	TNITQLNQGVTISVDLENGQYQVFY	TNITQLNQGVTILVDLENGQYQVFY	1.0	5.0	unscreened	-	2556_1:216498675-216498675 G>A_TNITQLNQGVTILVDLENGQYQVFY
10:21141515-21141515 C>T	1.0	2556	MELANOMA	-	-	-	-	NEBL	uc001iqi.3,p.E323K|NM_006393,p.E323K|ENST00000377122,p.E323K	retained_intron, protein_coding, processed_transcript	uc001iqi.3	nonsynonymous SNV	exon10	c.G967A	p.E323K	NKGMYHFDADAVEHLHHKGNAVLQS	NKGMYHFDADAVKHLHHKGNAVLQS	5.0	9.0	unscreened	-	2556_10:21141515-21141515 C>T_NKGMYHFDADAVKHLHHKGNAVLQS
12:80889841-80889841 C>T	0.0	2556	MELANOMA	-	-	-	-	PTPRQ	uc001sze.2,p.S477F|NM_001145026,p.S477F	retained_intron, protein_coding, processed_transcript	uc001sze.2	nonsynonymous SNV	exon10	c.C1430T	p.S477F	NIVEPMVGLYEGSAEMSSDLHSLAT	NIVEPMVGLYEGFAEMSSDLHSLAT	1.0	8.0	unscreened	-	2556_12:80889841-80889841 C>T_NIVEPMVGLYEGFAEMSSDLHSLAT
13:49796350-49796350 C>T	0.0	2556	MELANOMA	-	-	-	-	MLNR	NM_001507,p.S359L|uc010tgj.2,p.S359L|ENST00000218721,p.S359L	protein_coding	uc010tgj.2	nonsynonymous SNV	exon2	c.C1076T	p.S359L	SASINPILYNLISKKYRAAAFKLLL	SASINPILYNLILKKYRAAAFKLLL	1.0	6.0	unscreened	-	2556_13:49796350-49796350 C>T_SASINPILYNLILKKYRAAAFKLLL
11:92085966-92085966 G>A	1.0	2556	MELANOMA	-	-	-	2	FAT3	ENST00000409404,p.E230K|ENST00000525166,p.E80K|ENST00000541502,p.E230K|uc001pdj.4,p.E230K|NM_001008781,p.E230K|ENST00000298047,p.E230K	retained_intron, protein_coding, processed_transcript	uc001pdj.4	nonsynonymous SNV	exon1	c.G688A	p.E230K	RLNYDEKNRYDLEILAVDRGMKLYG	RLNYDEKNRYDLKILAVDRGMKLYG	4.0	3.0	unscreened	-	2556_11:92085966-92085966 G>A_RLNYDEKNRYDLKILAVDRGMKLYG
3:54930880-54930880 C>T	0.0	2556	MELANOMA	-	-	-	-	CACNA2D3	NM_018398,p.S784L|ENST00000490478,p.S690L|ENST00000288197,p.S784L|uc003dhg.1,p.S690L|ENST00000415676,p.S784L|uc003dhf.3,p.S784L|ENST00000474759,p.S784L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003dhg.1	nonsynonymous SNV	exon25	c.C2069T	p.S690L	RAAEQIPGSFVYSIPFSTGPVNKSN	RAAEQIPGSFVYLIPFSTGPVNKSN	3.0	4.0	unscreened	-	2556_3:54930880-54930880 C>T_RAAEQIPGSFVYLIPFSTGPVNKSN
19:12865599-12865599 G>A	0.0	2556	MELANOMA	-	-	-	-	BEST2	NM_017682,p.G161R|ENST00000042931,p.G161R|ENST00000549706,p.G161R|uc002mux.3,p.G161R|ENST00000553030,p.G161R	protein_coding	uc002mux.3	nonsynonymous SNV	exon3	c.G481A	p.G161R	KRFPTIDHVVEAGFMTREERKKFEN	KRFPTIDHVVEARFMTREERKKFEN	1.0	9.0	unscreened	-	2556_19:12865599-12865599 G>A_KRFPTIDHVVEARFMTREERKKFEN
12:2705123-2705123 C>T	0.0	2556	MELANOMA	-	-	-	-	CACNA1C	ENST00000399629,p.S916F|NM_001129836,p.S916F|NM_001129837,p.S916F|ENST00000399595,p.S916F|ENST00000399644,p.S916F|NM_000719,p.S916F|ENST00000399603,p.S916F|uc001qkh.2,p.S916F|ENST00000399655,p.S916F|NM_001129833,p.S916F|ENST00000399601,p.S916F|uc001qkn.2,p.S916F|uc001qka.1,p.S451F|NM_001129843,p.S916F|uc009zdw.1,p.S916F|uc009zdv.1,p.S913F|ENST00000399641,p.S916F|uc001qkq.2,p.S916F|uc001qkk.2,p.S916F|ENST00000402845,p.S916F|ENST00000399617,p.S916F|NM_001129840,p.S916F|ENST00000399606,p.S916F|uc009zdu.1,p.S916F|uc001qkg.2,p.S916F|uc001qkd.2,p.S916F|uc001qkb.2,p.S916F|NM_001167623,p.S916F|NM_001129846,p.S916F|NM_001129835,p.S916F|ENST00000480911,p.S916F|ENST00000399634,p.S916F|NM_001129827,p.S916F|ENST00000344100,p.S916F|NM_199460,p.S916F|uc001qkp.2,p.S916F|NM_001129842,p.S916F|uc001qjz.2,p.S916F|NM_001129831,p.S916F|NM_001129829,p.S916F|ENST00000347598,p.S916F|ENST00000399621,p.S916F|uc001qki.1,p.S652F|NM_001129832,p.S916F|ENST00000399649,p.S916F|ENST00000406454,p.S916F|ENST00000399638,p.S916F|uc001qkr.2,p.S916F|uc001qkj.2,p.S916F|uc001qku.2,p.S916F|uc001qko.2,p.S916F|NM_001129838,p.S916F|uc001qks.2,p.S916F|NM_001167625,p.S916F|NM_001129839,p.S916F|ENST00000335762,p.S941F|uc001qkl.2,p.S916F|NM_001129844,p.S913F|NM_001129841,p.S916F|ENST00000399597,p.S916F|uc001qkc.2,p.S916F|uc001qkt.2,p.S916F|uc001qkm.2,p.S916F|NM_001129834,p.S916F|ENST00000399637,p.S916F|uc001qke.2,p.S916F|ENST00000399591,p.S916F|ENST00000327702,p.S916F|NM_001129830,p.S916F|uc001qkf.2,p.S916F|NM_001167624,p.S916F	retained_intron, protein_coding, processed_transcript	uc009zdw.1	nonsynonymous SNV	exon20	c.C2747T	p.S916F	NLILFFILLSSISLAAEDPVQHTSF	NLILFFILLSSIFLAAEDPVQHTSF	3.0	9.0	unscreened	-	2556_12:2705123-2705123 C>T_NLILFFILLSSIFLAAEDPVQHTSF
1:179659999-179659999 C>T	0.0	2556	MELANOMA	-	-	-	-	TDRD5	NM_173533,p.A956V|ENST00000444136,p.A1010V|uc021pfm.1,p.A956V|uc001gnh.2,p.A511V|uc010pnp.2,p.A1010V|NM_001199092,p.A511V|NM_001199089,p.A1010V|NM_001199085,p.A1010V|uc021pfn.1,p.A1010V|uc001gnf.2,p.A956V|ENST00000367614,p.A956V|ENST00000417329,p.A466V|ENST00000294848,p.A956V|NM_001199091,p.A956V	protein_coding	uc021pfn.1	nonsynonymous SNV	exon18	c.C3029T	p.A1010V	QKLYIPRSTATAALGAAARLATSRS	QKLYIPRSTATAVLGAAARLATSRS	1.0	5.0	unscreened	-	2556_1:179659999-179659999 C>T_QKLYIPRSTATAVLGAAARLATSRS
18:72229284-72229284 A>G	0.0	2556	MELANOMA	-	-	-	-	CNDP1	uc002llq.3,p.K157E|ENST00000582365,p.K114E|NM_032649,p.K157E|ENST00000358821,p.K157E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002llq.3	nonsynonymous SNV	exon5	c.A469G	p.K157E	LTDPYVLTEVDGKLYGRGATDNKGP	LTDPYVLTEVDGELYGRGATDNKGP	1.0	4.0	unscreened	-	2556_18:72229284-72229284 A>G_LTDPYVLTEVDGELYGRGATDNKGP
2:220309859-220309859 G>A	0.0	2556	MELANOMA	-	-	-	-	SPEG	uc010fwg.3,p.R264K|ENST00000396698,p.R160K|NM_005876,p.R264K|ENST00000312358,p.R264K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fwg.3	nonsynonymous SNV	exon3	c.G791A	p.R264K	ASDLYGSAFSLYRGRALSIHVSVPQ	ASDLYGSAFSLYKGRALSIHVSVPQ	5.0	8.0	-	-	2556_2:220309859-220309859 G>A_ASDLYGSAFSLYKGRALSIHVSVPQ
3:108690227-108690227 G>A	0.0	2556	MELANOMA	-	-	-	-	MORC1	NM_014429,p.P834S|ENST00000483760,p.P813S|uc011bhn.2,p.P813S|uc003dxl.3,p.P834S|ENST00000232603,p.P834S	protein_coding	uc011bhn.2	nonsynonymous SNV	exon24	c.C2437T	p.P813S	KSKLREILLYFFPEHQLPSELEEPA	KSKLREILLYFFSEHQLPSELEEPA	1.0	2.0	unscreened	-	2556_3:108690227-108690227 G>A_KSKLREILLYFFSEHQLPSELEEPA
4:144617277-144617277 C>T	0.0	2556	MELANOMA	-	-	-	-	FREM3	NM_001168235,p.E1518K|ENST00000329798,p.E1518K|uc021xsj.1,p.E1518K	protein_coding, processed_transcript	uc021xsj.1	nonsynonymous SNV	exon1	c.G4552A	p.E1518K	KKMDSFEFQVIGELYPVFRTFRIFI	KKMDSFEFQVIGKLYPVFRTFRIFI	1.0	4.0	unscreened	-	2556_4:144617277-144617277 C>T_KKMDSFEFQVIGKLYPVFRTFRIFI
3:45153797-45153797 G>A	0.0	2556	MELANOMA	-	-	-	-	CDCP1	NM_022842,p.R145C|ENST00000425231,p.R145C|NM_178181,p.R145C|uc003com.3,p.R145C|uc003con.3,p.R145C|ENST00000296129,p.R145C	protein_coding, processed_transcript	uc003con.3	nonsynonymous SNV	exon3	c.C433T	p.R145C	KSIGLELQFSIPRLRQIGPGESCPD	KSIGLELQFSIPCLRQIGPGESCPD	6.0	7.0	-	-	2556_3:45153797-45153797 G>A_KSIGLELQFSIPCLRQIGPGESCPD
5:140502130-140502130 C>T	1.0	2556	MELANOMA	-	-	-	-	PCDHB4	uc003lip.1,p.H184Y|ENST00000194152,p.H184Y|NM_018938,p.H184Y	protein_coding	uc003lip.1	nonsynonymous SNV	exon1	c.C550T	p.H184Y	SPNSHFHILTRNHSEGKKYPDLVQD	SPNSHFHILTRNYSEGKKYPDLVQD	4.0	8.0	-	-	2556_5:140502130-140502130 C>T_SPNSHFHILTRNYSEGKKYPDLVQD
X:114425517-114425517 G>A	0.0	2556	MELANOMA	-	-	-	-	RBMXL3	ENST00000424776,p.G505R|NM_001145346,p.G505R|uc011mte.1,p.G505R	protein_coding	uc011mte.1	nonsynonymous SNV	exon1	c.G1513A	p.G505R	GGHDNSSWSDRYGVGGHYEENRGHS	GGHDNSSWSDRYRVGGHYEENRGHS	1.0	2.0	unscreened	-	2556_X:114425517-114425517 G>A_GGHDNSSWSDRYRVGGHYEENRGHS
14:73989486-73989486 G>A	0.0	2556	MELANOMA	-	-	-	-	HEATR4	uc021rwf.2,p.S124F|ENST00000334988,p.S124F|NM_203309,p.S124F|ENST00000556455,p.S124F|ENST00000560393,p.S77F|ENST00000553558,p.S124F|uc021rwe.1,p.S124F|NM_001220484,p.S124F|uc010tub.1,p.S124F	protein_coding, processed_transcript	uc021rwf.2	nonsynonymous SNV	exon2	c.C371T	p.S124F	RPQKPVSFKFLGSSSPLTGDTSLAV	RPQKPVSFKFLGFSSPLTGDTSLAV	1.0	10.0	unscreened	-	2556_14:73989486-73989486 G>A_RPQKPVSFKFLGFSSPLTGDTSLAV
12:43858461-43858461 G>A	0.0	2556	MELANOMA	-	-	ID=COSM142257,COSM142258;OCCURENCE=1(skin)	-	ADAMTS20	ENST00000553158,p.S481L|uc010skx.2,p.S481L|NM_025003,p.S481L|ENST00000389420,p.S481L	protein_coding	uc010skx.2	nonsynonymous SNV	exon10	c.C1442T	p.S481L	EEIYNLPSELPGSRYDGNKQCELAF	EEIYNLPSELPGLRYDGNKQCELAF	1.0	9.0	unscreened	-	2556_12:43858461-43858461 G>A_EEIYNLPSELPGLRYDGNKQCELAF
2:227898194-227898194 G>A	0.0	2556	MELANOMA	-	-	-	-	COL4A4	ENST00000396625,p.P1170L|ENST00000329662,p.P1170L|uc021vxs.1,p.P1170L|NM_000092,p.P1170L|uc021vxr.1,p.P1170L	protein_coding	uc021vxs.1	nonsynonymous SNV	exon38	c.C3509T	p.P1170L	DPGIPGPPGIKGPSGSPGLNGLHGL	DPGIPGPPGIKGLSGSPGLNGLHGL	3.0	1.0	unscreened	-	2556_2:227898194-227898194 G>A_DPGIPGPPGIKGLSGSPGLNGLHGL
4:3216908-3216908 G>A	1.0	2556	MELANOMA	-	-	-	-	HTT	ENST00000355072,p.E2342K	retained_intron, protein_coding, processed_transcript	ENST00000355072	nonsynonymous SNV	exon51	c.G7024A	p.E2342K	ERRTNTPKAISEEEEEVDPNTQNPK	ERRTNTPKAISEKEEEVDPNTQNPK	9.0	8.0	-	-	2556_4:3216908-3216908 G>A_ERRTNTPKAISEKEEEVDPNTQNPK
19:40886570-40886570 C>T	0.0	2556	MELANOMA	-	-	-	-	HIPK4	ENST00000291823,p.G443D|uc002onp.3,p.G443D|NM_144685,p.G443D	protein_coding	uc002onp.3	nonsynonymous SNV	exon3	c.G1328A	p.G443D	DLSLQEAGHGLWGETCTNAVSDMMV	DLSLQEAGHGLWDETCTNAVSDMMV	1.0	9.0	unscreened	-	2556_19:40886570-40886570 C>T_DLSLQEAGHGLWDETCTNAVSDMMV
11:89088157-89088157 G>A	0.0	2556	MELANOMA	-	-	-	-	NOX4	uc001pct.3,p.P397L|ENST00000527956,p.P373L|NM_001291929,p.P372L|NM_001291927,p.P418L|ENST00000413594,p.P418L|ENST00000343727,p.P373L|ENST00000528341,p.P372L|uc001pcu.3,p.P323L|ENST00000424319,p.P373L|NM_001143837,p.P373L|ENST00000263317,p.P397L|uc001pcw.3,p.P90L|ENST00000527626,p.P231L|NM_016931,p.P397L|NM_001291926,p.P323L|uc009yvr.3,p.P372L|ENST00000542487,p.P373L|ENST00000375979,p.P90L|ENST00000535633,p.P373L|uc010rtu.2,p.P231L|uc009yvq.3,p.P373L	retained_intron, protein_coding, nonsense_mediated_decay	uc010rtu.2	nonsynonymous SNV	exon9	c.C692T	p.P231L	LLPPSSQDSEILPFIQSRNYPKLYI	LLPPSSQDSEILLFIQSRNYPKLYI	5.0	3.0	-	-	2556_11:89088157-89088157 G>A_LLPPSSQDSEILLFIQSRNYPKLYI
11:89088157-89088157 G>A	0.0	2556	MELANOMA	-	-	-	-	NOX4	ENST00000532825,p.P373L|uc001pcx.3,p.P90L|uc010rtv.2,p.P373L|uc001pcv.3,p.P397L|ENST00000534731,p.P397L|ENST00000531342,p.P90L|NM_001143836,p.P397L|NM_001300995,p.P373L	retained_intron, protein_coding, nonsense_mediated_decay	uc010rtv.2	nonsynonymous SNV	exon13	c.C1118T	p.P373L	LLPPSSQDSEILPFIQSRNYPKDDW	LLPPSSQDSEILLFIQSRNYPKDDW	5.0	3.0	unscreened	-	2556_11:89088157-89088157 G>A_LLPPSSQDSEILLFIQSRNYPKDDW
7:47408433-47408433 C>T	0.0	2556	MELANOMA	-	-	-	-	TNS3	uc003tnw.3,p.A604T|ENST00000457718,p.A707T|ENST00000311160,p.A604T|uc022acn.1,p.A161T|ENST00000398879,p.A604T|NM_022748,p.A604T|ENST00000355730,p.A364T	retained_intron, protein_coding, processed_transcript	uc022acn.1	nonsynonymous SNV	exon1	c.G481A	p.A161T	QQQMVVAHQYSFAPDGEARLVSRCP	QQQMVVAHQYSFTPDGEARLVSRCP	10.0	1.0	unscreened	-	2556_7:47408433-47408433 C>T_QQQMVVAHQYSFTPDGEARLVSRCP
17:37342761-37342761 G>A	1.0	2556	MELANOMA	-	-	-	-	CACNB1	uc002hrp.2,p.P206S	retained_intron, protein_coding, processed_transcript	uc002hrp.2	nonsynonymous SNV	exon6	c.C616T	p.P206S	LGDVVTGTRRPTPPASDRACAPL	LGDVVTGTRRPTSPASDRACAPL	5.0	5.0	unscreened	-	2556_17:37342761-37342761 G>A_LGDVVTGTRRPTSPASDRACAPL
7:88423740-88423740 C>T	0.0	2556	MELANOMA	-	-	-	-	C7orf62	ENST00000297203,p.D173N|NM_152706,p.D173N|uc022ahc.1,p.D173N|uc003ujv.3,p.D173N	protein_coding	uc022ahc.1	nonsynonymous SNV	exon1	c.G517A	p.D173N	VTQSQSLKEVITDFLTQTHKLSLYL	VTQSQSLKEVITNFLTQTHKLSLYL	1.0	10.0	unscreened	-	2556_7:88423740-88423740 C>T_VTQSQSLKEVITNFLTQTHKLSLYL
9:125437767-125437767 T>G	0.0	2556	MELANOMA	-	-	-	-	OR1L3	ENST00000304820,p.I120S|uc011lzb.2,p.I120S|NM_001005234,p.I120S	protein_coding	uc011lzb.2	nonsynonymous SNV	exon1	c.T359G	p.I120S	GNIDSYLLAAMAINRCVAICNPFHY	GNIDSYLLAAMASNRCVAICNPFHY	1.0	8.0	unscreened	-	2556_9:125437767-125437767 T>G_GNIDSYLLAAMASNRCVAICNPFHY
1:120306878-120306878 C>T	0.0	2556	MELANOMA	-	-	-	-	HMGCS2	NM_001166107,p.G159D|ENST00000369406,p.G159D|NM_005518,p.G159D|ENST00000544913,p.G159D|uc010oxj.2,p.G159D|uc021osx.1,p.G67D|uc001eid.3,p.G159D	protein_coding, processed_transcript	uc021osx.1	nonsynonymous SNV	exon1	c.G200A	p.G67D	ELFQDSGNTDIEGIDTTNACYGGTA	ELFQDSGNTDIEDIDTTNACYGGTA	1.0	9.0	unscreened	-	2556_1:120306878-120306878 C>T_ELFQDSGNTDIEDIDTTNACYGGTA
10:26589746-26589746 G>A	0.0	2556	MELANOMA	-	-	-	-	GAD2	NM_000818,p.M538I|NM_001134366,p.M538I|ENST00000259271,p.M538I|uc001isq.2,p.M538I|ENST00000376261,p.M538I|uc001isp.2,p.M538I	protein_coding	uc001isq.2	nonsynonymous SNV	exon16	c.G1614A	p.M538I	LSKVAPVIKARMMEYGTTMVSYQPL	LSKVAPVIKARMIEYGTTMVSYQPL	1.0	3.0	unscreened	-	2556_10:26589746-26589746 G>A_LSKVAPVIKARMIEYGTTMVSYQPL
2:141473651-141473651 G>A	0.0	2556	MELANOMA	-	-	ID=COSM373817;OCCURENCE=1(lung)	1	LRP1B	ENST00000389484,p.H1972Y|NM_018557,p.H1972Y|uc002tvj.1,p.H1972Y	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon37	c.C5914T	p.H1972Y	VDWIAGNIYWTDHGFNLIEVARLNG	VDWIAGNIYWTDYGFNLIEVARLNG	2.0	5.0	unscreened	-	2556_2:141473651-141473651 G>A_VDWIAGNIYWTDYGFNLIEVARLNG
17:3301533-3301533 G>A	0.0	2556	MELANOMA	-	-	-	-	OR1E1	NM_003553,p.P58S|ENST00000322608,p.P58S|uc002fvj.1,p.P58S	protein_coding	uc002fvj.1	nonsynonymous SNV	exon1	c.C172T	p.P58S	IVLIRLDSHLHTPMYLFLSNLSFSD	IVLIRLDSHLHTSMYLFLSNLSFSD	1.0	5.0	unscreened	-	2556_17:3301533-3301533 G>A_IVLIRLDSHLHTSMYLFLSNLSFSD
4:187003936-187003936 G>A	1.0	2556	MELANOMA	-	-	-	-	TLR3	uc011ckz.2,p.D89N|ENST00000296795,p.D366N|NM_003265,p.D366N|uc003iyq.3,p.D366N|ENST00000504367,p.D89N|ENST00000513189,p.D302N|uc003iyr.3,p.D89N	retained_intron, protein_coding, processed_transcript	uc011ckz.2	nonsynonymous SNV	exon2	c.G265A	p.D89N	LKCLEHLNMEDNDIPGIKSNMFTGL	LKCLEHLNMEDNNIPGIKSNMFTGL	6.0	8.0	-	-	2556_4:187003936-187003936 G>A_LKCLEHLNMEDNNIPGIKSNMFTGL
7:100551488-100551488 C>T	0.0	2556	MELANOMA	-	-	-	-	MUC3A	NM_005960,p.S690L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	NM_005960	nonsynonymous SNV	exon2	c.C2069T	p.S690L	VVTSGTINTIPPSILVTTLPTPNAS	VVTSGTINTIPPLILVTTLPTPNAS	3.0	1.0	unscreened	-	2556_7:100551488-100551488 C>T_VVTSGTINTIPPLILVTTLPTPNAS
16:70942248-70942248 T>A	0.0	2556	MELANOMA	-	-	-	-	HYDIN	ENST00000393567,p.Q2768L|NM_001270974,p.Q2768L|uc031qwy.1,p.Q2768L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon49	c.A8303T	p.Q2768L	VHFSSDEFGNFDQTFNFEILGTCCQ	VHFSSDEFGNFDLTFNFEILGTCCQ	3.0	1.0	unscreened	-	2556_16:70942248-70942248 T>A_VHFSSDEFGNFDLTFNFEILGTCCQ
19:16025188-16025188 G>A	0.0	2556	MELANOMA	-	-	-	-	CYP4F11	uc010eab.1,p.P420L|ENST00000326742,p.P420L	retained_intron, protein_coding	uc010eab.1	nonsynonymous SNV	exon10	c.C1259T	p.P420L	LPDGRVIPKGLRPLPFRPREHQGEV	LPDGRVIPKGLRLLPFRPREHQGEV	5.0	2.0	unscreened	-	2556_19:16025188-16025188 G>A_LPDGRVIPKGLRLLPFRPREHQGEV
7:100641964-100641964 C>T	0.0	2556	MELANOMA	-	-	-	-	MUC12	ENST00000536621,p.T2707M|uc003uxo.3,p.T2707M|ENST00000379442,p.T2850M|NM_001164462,p.T2707M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.C8120T	p.T2707M	STHSTVSPASTTTPGLSEESTTVYS	STHSTVSPASTTMPGLSEESTTVYS	2.0	1.0	unscreened	-	2556_7:100641964-100641964 C>T_STHSTVSPASTTMPGLSEESTTVYS
X:105190449-105190449 C>T	0.0	2556	MELANOMA	-	-	-	-	NRK	ENST00000428173,p.P1450L|NM_198465,p.P1449L|ENST00000243300,p.P1449L	protein_coding	NM_198465	nonsynonymous SNV	exon26	c.C4346T	p.P1449L	DAESEVMSDVTLPKNPLEIIIPQNI	DAESEVMSDVTLLKNPLEIIIPQNI	1.0	3.0	unscreened	-	2556_X:105190449-105190449 C>T_DAESEVMSDVTLLKNPLEIIIPQNI
1:18809312-18809312 G>A	0.0	2556	MELANOMA	-	-	-	-	KLHDC7A	NM_152375,p.D613N|ENST00000400664,p.D613N|uc009vpg.3,p.D395N|uc001bax.3,p.D613N	protein_coding	uc009vpg.3	nonsynonymous SNV	exon1	c.G1183A	p.D395N	SVERYDPRLDRWDFAPPLPSDTFAL	SVERYDPRLDRWNFAPPLPSDTFAL	1.0	10.0	unscreened	-	2556_1:18809312-18809312 G>A_SVERYDPRLDRWNFAPPLPSDTFAL
2:219256216-219256216 G>A	0.0	2556	MELANOMA	-	-	-	-	SLC11A1	uc010zkc.1,p.E321K|uc002vhw.3,p.E270K|NM_000578,p.E388K|ENST00000233202,p.E388K|uc002vhv.3,p.E388K|uc010fvr.3,p.E183K|uc002vhu.1,p.E183K|ENST00000539932,p.E270K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zkc.1	nonsynonymous SNV	exon11	c.G961A	p.E321K	TMTGTYAGQFVMEGFLRLRWSRFAR	TMTGTYAGQFVMKGFLRLRWSRFAR	1.0	5.0	unscreened	-	2556_2:219256216-219256216 G>A_TMTGTYAGQFVMKGFLRLRWSRFAR
5:140474481-140474481 C>T	1.0	2556	MELANOMA	-	-	-	-	PCDHB2	ENST00000194155,p.S36L|NM_018936,p.S36L|uc003lil.3,p.S36L	protein_coding	uc003lil.3	nonsynonymous SNV	exon1	c.C107T	p.S36L	GIAQASCQPRHYSVAEETESGSFVA	GIAQASCQPRHYLVAEETESGSFVA	6.0	7.0	-	-	2556_5:140474481-140474481 C>T_GIAQASCQPRHYLVAEETESGSFVA
11:123989712-123989712 C>T	0.0	2556	MELANOMA	-	-	ID=COSM233752;OCCURENCE=1(skin)	-	VWA5A	ENST00000361352,p.R226W|ENST00000392744,p.R242W|NM_014622,p.R226W|ENST00000360334,p.R226W|ENST00000392748,p.R226W|ENST00000456829,p.R226W|uc001pzr.3,p.R226W|uc001pzu.3,p.R226W|uc001pzt.3,p.R226W|NM_198315,p.R226W|NM_001130142,p.R226W|uc001pzs.3,p.R226W|uc010sae.2,p.R242W|ENST00000449321,p.R226W	retained_intron, protein_coding	uc010sae.2	nonsynonymous SNV	exon7	c.C724T	p.R242W	AQVSLAAGHKFDRDVELLIYYNEVH	AQVSLAAGHKFDWDVELLIYYNEVH	3.0	2.0	-	-	2556_11:123989712-123989712 C>T_AQVSLAAGHKFDWDVELLIYYNEVH
16:29917114-29917114 C>T	1.0	2556	MELANOMA	-	-	-	-	ASPHD1	NM_181718,p.P357S|ENST00000566693,p.P357S|ENST00000563177,p.P76S|uc002dut.3,p.P357S|ENST00000414952,p.P357S|ENST00000483405,p.P76S|ENST00000308748,p.P357S	protein_coding, nonsense_mediated_decay	uc002dut.3	nonsynonymous SNV	exon3	c.C1069T	p.P357S	DSFLHTVAHNGSPEDGPRVVFIVDL	DSFLHTVAHNGSSEDGPRVVFIVDL	5.0	3.0	-	-	2556_16:29917114-29917114 C>T_DSFLHTVAHNGSSEDGPRVVFIVDL
16:10032069-10032069 C>T	0.0	2556	MELANOMA	-	-	ID=COSM109185;OCCURENCE=1(skin)	1	GRIN2A	ENST00000396575,p.D252N|uc002czr.4,p.D252N|ENST00000396573,p.D252N|uc010uym.2,p.D252N|NM_001134407,p.D252N|NM_000833,p.D252N|uc010uyn.2,p.D95N|ENST00000330684,p.D252N|ENST00000562109,p.D252N|ENST00000535259,p.D95N|NM_001134408,p.D252N|uc002czo.4,p.D252N|ENST00000404927,p.D252N	retained_intron, protein_coding, processed_transcript	uc010uyn.2	nonsynonymous SNV	exon2	c.G283A	p.D95N	LSEARSLGLTGYDFFWIVPSLVSGN	LSEARSLGLTGYNFFWIVPSLVSGN	1.0	10.0	unscreened	-	2556_16:10032069-10032069 C>T_LSEARSLGLTGYNFFWIVPSLVSGN
6:123892077-123892077 T>A	0.0	2556	MELANOMA	-	-	-	-	TRDN	uc010keo.2,p.N75Y|ENST00000398178,p.N75Y|ENST00000334268,p.N75Y|uc021zem.2,p.N75Y|uc010ken.3,p.N75Y|uc003pzk.2,p.N75Y|uc003pzj.2,p.N75Y|ENST00000542443,p.N75Y|NM_001256021,p.N75Y|ENST00000546248,p.N75Y|NM_001251987,p.N75Y|NM_001256022,p.N75Y|NM_001256020,p.N75Y|NM_006073,p.N75Y	protein_coding	uc021zem.2	nonsynonymous SNV	exon2	c.A223T	p.N75Y	VAIVMFDLVDYKNFSASSIAKIGSD	VAIVMFDLVDYKYFSASSIAKIGSD	1.0	6.0	unscreened	-	2556_6:123892077-123892077 T>A_VAIVMFDLVDYKYFSASSIAKIGSD
12:113629545-113629545 C>T	1.0	2556	MELANOMA	-	-	ID=COSM1561823;OCCURENCE=1(large_intestine)	-	RITA1	NM_001286215,p.R269C|NM_032848,p.R245C|ENST00000549621,p.R245C|ENST00000548278,p.R245C|ENST00000552495,p.R269C|uc001tur.1,p.R245C	protein_coding	uc001tur.1	nonsynonymous SNV	exon4	c.C733T	p.R245C	VTFRSPLVTSRARSVSISVPSTPRR	VTFRSPLVTSRACSVSISVPSTPRR	7.0	4.0	-	-	2556_12:113629545-113629545 C>T_VTFRSPLVTSRACSVSISVPSTPRR
12:124303549-124303549 A>G	0.0	2556	MELANOMA	-	-	-	-	DNAH10	uc001uft.4,p.N1160S|NM_207437,p.N1160S|ENST00000409039,p.N1160S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uft.4	nonsynonymous SNV	exon21	c.A3479G	p.N1160S	KELVDKIESIWSNLFNDSVNVEHAL	KELVDKIESIWSSLFNDSVNVEHAL	4.0	4.0	unscreened	-	2556_12:124303549-124303549 A>G_KELVDKIESIWSSLFNDSVNVEHAL
11:118183485-118183485 G>A	0.0	2556	MELANOMA	-	-	-	-	CD3E	uc001psq.4,p.E86K|NM_000733,p.E86K|uc010rya.2,p.E86K|ENST00000361763,p.E86K|ENST00000528600,p.E80K	retained_intron, protein_coding	uc010rya.2	nonsynonymous SNV	exon6	c.G256A	p.E86K	NIGSDEDHLSLKEFSELEQSGYYVC	NIGSDEDHLSLKKFSELEQSGYYVC	1.0	10.0	-	-	2556_11:118183485-118183485 G>A_NIGSDEDHLSLKKFSELEQSGYYVC
20:41101092-41101092 G>A	0.0	2556	MELANOMA	-	-	ID=COSM142702;OCCURENCE=1(skin)	1	PTPRT	uc010ggj.3,p.L422F|ENST00000373184,p.L422F|ENST00000373198,p.L422F|NM_007050,p.L422F|ENST00000373201,p.L422F|uc002xkg.3,p.L422F|ENST00000373193,p.L422F|ENST00000373190,p.L422F|ENST00000356100,p.L422F|ENST00000373187,p.L422F|NM_133170,p.L422F	protein_coding, processed_transcript	uc010ggj.3	nonsynonymous SNV	exon8	c.C1264T	p.L422F	FGYAVTRCHSYNLTVQYQYVFNQQQ	FGYAVTRCHSYNFTVQYQYVFNQQQ	1.0	6.0	unscreened	-	2556_20:41101092-41101092 G>A_FGYAVTRCHSYNFTVQYQYVFNQQQ
6:84865045-84865045 G>A	1.0	2556	MELANOMA	-	-	-	-	CEP162	uc003pki.4,p.T375I|NM_014895,p.T989I|uc003pkj.4,p.T913I|ENST00000257766,p.T913I|ENST00000403245,p.T989I|NM_001286206,p.T913I|uc010kbp.3,p.T989I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kbp.3	nonsynonymous SNV	exon22	c.C2966T	p.T989I	EGKDEDAKKSLRTMEQQFQKMKIQY	EGKDEDAKKSLRIMEQQFQKMKIQY	6.0	4.0	-	-	2556_6:84865045-84865045 G>A_EGKDEDAKKSLRIMEQQFQKMKIQY
10:124596395-124596395 C>T	0.0	2556	MELANOMA	-	-	-	-	CUZD1	uc010qtz.2,p.G257R|ENST00000545804,p.G257R|uc001lgs.3,p.G257R|ENST00000368904,p.G257R|NM_022034,p.G257R|ENST00000392790,p.G257R	protein_coding	uc010qtz.2	nonsynonymous SNV	exon7	c.G769A	p.G257R	VVLSTDYANSYRGFSASYTSIYAEN	VVLSTDYANSYRRFSASYTSIYAEN	1.0	7.0	unscreened	-	2556_10:124596395-124596395 C>T_VVLSTDYANSYRRFSASYTSIYAEN
12:113314539-113314539 G>A	0.0	2556	MELANOMA	-	-	-	-	RPH3A	uc001tty.3,p.D343N|uc010sym.2,p.D298N|ENST00000447659,p.D298N|ENST00000389385,p.D347N|uc001ttz.3,p.D347N|NM_001143854,p.D347N|uc010syl.2,p.D347N|ENST00000415485,p.D347N|ENST00000543106,p.D347N|uc009zwe.1,p.D343N|NM_014954,p.D343N|ENST00000420983,p.D347N|ENST00000548866,p.D298N|uc001tua.3,p.D107N|ENST00000551052,p.D343N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sym.2	nonsynonymous SNV	exon11	c.G892A	p.D298N	GVGGYPAVGAREDRMSHPSGPYSQA	GVGGYPAVGARENRMSHPSGPYSQA	2.0	3.0	unscreened	-	2556_12:113314539-113314539 G>A_GVGGYPAVGARENRMSHPSGPYSQA
3:102196348-102196348 G>A	0.0	2556	MELANOMA	-	-	ID=COSM2915992;OCCURENCE=1(oesophagus)	-	ZPLD1	ENST00000466937,p.M378I|uc003dvt.1,p.M394I|NM_175056,p.M394I|uc011bhg.1,p.M378I|uc003dvs.1,p.M378I|ENST00000306176,p.M394I|ENST00000491959,p.M378I	protein_coding, processed_transcript	uc011bhg.1	nonsynonymous SNV	exon12	c.G1134A	p.M378I	QLNAITSALISGMVILGVTSFSLLL	QLNAITSALISGIVILGVTSFSLLL	1.0	6.0	unscreened	-	2556_3:102196348-102196348 G>A_QLNAITSALISGIVILGVTSFSLLL
X:19371265-19371265 G>A	0.0	2556	MELANOMA	-	-	-	-	PDHA1	uc011mjc.2,p.G169R|ENST00000545074,p.G169R|ENST00000422285,p.G162R|NM_001173455,p.G169R|NM_000284,p.G162R|uc004czg.4,p.G162R|NM_001173454,p.G200R|ENST00000379806,p.G200R|uc004czh.4,p.G200R|ENST00000355808,p.G169R	protein_coding, processed_transcript	uc011mjc.2	nonsynonymous SNV	exon5	c.G505A	p.G169R	GGSMHMYAKNFYGGNGIVGAQVPLG	GGSMHMYAKNFYRGNGIVGAQVPLG	10.0	4.0	-	-	2556_X:19371265-19371265 G>A_GGSMHMYAKNFYRGNGIVGAQVPLG
X:19371265-19371265 G>A	0.0	2556	MELANOMA	-	-	-	-	PDHA1	NM_001173456,p.G162R|uc011mjd.2,p.G162R|ENST00000540249,p.G162R	protein_coding, processed_transcript	uc011mjd.2	nonsynonymous SNV	exon5	c.G484A	p.G162R	GGSMHMYAKNFYGGNGIVGAQGQIF	GGSMHMYAKNFYRGNGIVGAQGQIF	10.0	4.0	unscreened	-	2556_X:19371265-19371265 G>A_GGSMHMYAKNFYRGNGIVGAQGQIF
12:50357939-50357939 G>A	0.0	2556	MELANOMA	-	-	-	-	AQP5	uc001rvo.3,p.R198Q|NM_001651,p.R198Q|ENST00000293599,p.R198Q	retained_intron, protein_coding	uc001rvo.3	nonsynonymous SNV	exon3	c.G593A	p.R198Q	PARSFGPAVVMNRFSPAHWVFWVGP	PARSFGPAVVMNQFSPAHWVFWVGP	1.0	10.0	unscreened	-	2556_12:50357939-50357939 G>A_PARSFGPAVVMNQFSPAHWVFWVGP
19:3008880-3008880 G>A	1.0	2556	MELANOMA	-	-	-	-	TLE2	uc010xhd.1,p.P321S|uc010dth.3,p.P414S|NM_003260,p.P413S|uc010xhc.2,p.P291S|ENST00000447365,p.P80S|uc002lww.3,p.P413S|ENST00000455444,p.P291S|ENST00000262953,p.P413S|NM_001144761,p.P427S|ENST00000443826,p.P291S|uc010dti.3,p.P427S|ENST00000590536,p.P414S|ENST00000591529,p.P427S|uc010xhb.2,p.P80S|NM_001144762,p.P291S|ENST00000426948,p.P427S|NM_001300846,p.P414S	retained_intron, protein_coding, processed_transcript	uc010xhd.1	nonsynonymous SNV	exon11	c.C961T	p.P321S	RGSSVSSSLPSIPGGKPAYSFHVSA	RGSSVSSSLPSISGGKPAYSFHVSA	5.0	10.0	-	-	2556_19:3008880-3008880 G>A_RGSSVSSSLPSISGGKPAYSFHVSA
15:89401092-89401092 C>T	0.0	2556	MELANOMA	-	-	-	-	ACAN	uc010upo.1,p.S1759F|ENST00000561243,p.S1759F|NM_001135,p.S1759F|ENST00000559004,p.S1759F|NM_013227,p.S1759F|ENST00000352105,p.S1759F|uc010upp.1,p.S1759F|ENST00000439576,p.S1759F	retained_intron, protein_coding	uc010upp.1	nonsynonymous SNV	exon12	c.C5276T	p.S1759F	GETSGVTELSGLSSGQPGISGEASG	GETSGVTELSGLFSGQPGISGEASG	4.0	8.0	unscreened	-	2556_15:89401092-89401092 C>T_GETSGVTELSGLFSGQPGISGEASG
X:19371265-19371265 G>A	0.0	2556	MELANOMA	-	-	-	-	PDHA1	ENST00000379805,p.G162R	protein_coding, processed_transcript	ENST00000379805	nonsynonymous SNV	exon5	c.G484A	p.G162R	GGSMHMYAKNFYGGNGIVGAQVVKD	GGSMHMYAKNFYRGNGIVGAQVVKD	10.0	4.0	unscreened	-	2556_X:19371265-19371265 G>A_GGSMHMYAKNFYRGNGIVGAQVVKD
5:54429251-54429251 C>T	0.0	2556	MELANOMA	-	-	-	-	CDC20B	ENST00000334206,p.R229Q|uc003jpo.2,p.R229Q|uc010ivu.2,p.R229Q|ENST00000381375,p.R229Q|uc003jpn.2,p.R229Q|NM_001170402,p.R229Q|NM_001145734,p.R229Q|ENST00000322374,p.R229Q|uc010ivv.2,p.R229Q|NM_152623,p.R229Q|ENST00000296733,p.R229Q|ENST00000513180,p.R229Q	protein_coding, nonsense_mediated_decay	uc010ivv.2	nonsynonymous SNV	exon6	c.G686A	p.R229Q	LQPEVKIHITGLRNDYYLNILDWSF	LQPEVKIHITGLQNDYYLNILDWSF	1.0	2.0	unscreened	-	2556_5:54429251-54429251 C>T_LQPEVKIHITGLQNDYYLNILDWSF
7:142723927-142723927 G>A	0.0	2556	MELANOMA	-	-	-	-	OR9A2	ENST00000350513,p.S98L|NM_001001658,p.S98L|uc003wcc.1,p.S98L	protein_coding	uc003wcc.1	nonsynonymous SNV	exon1	c.C293T	p.S98L	FLGCRQYLSLHVSLNFSCGTMEFAL	FLGCRQYLSLHVLLNFSCGTMEFAL	2.0	1.0	unscreened	-	2556_7:142723927-142723927 G>A_FLGCRQYLSLHVLLNFSCGTMEFAL
7:143657202-143657202 C>T	0.0	2556	MELANOMA	-	-	-	-	OR2F1	uc003wds.1,p.L47F|ENST00000392899,p.L47F|NM_012369,p.L47F	protein_coding	uc003wds.1	nonsynonymous SNV	exon1	c.C139T	p.L47F	YVVTVLGNCLIVLLIRLDSRLHTPM	YVVTVLGNCLIVFLIRLDSRLHTPM	1.0	1.0	unscreened	-	2556_7:143657202-143657202 C>T_YVVTVLGNCLIVFLIRLDSRLHTPM
1:179503926-179503926 C>T	0.0	2556	MELANOMA	-	-	-	-	AXDND1	NM_144696,p.H954Y|uc021pfj.1,p.H838Y|ENST00000434088,p.H814Y|uc001gmo.3,p.H954Y|ENST00000367618,p.H954Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc021pfj.1	nonsynonymous SNV	exon21	c.C2512T	p.H838Y	AEEKFEDAYEKLHHTLIKNKDLEEL	AEEKFEDAYEKLYHTLIKNKDLEEL	3.0	1.0	unscreened	-	2556_1:179503926-179503926 C>T_AEEKFEDAYEKLYHTLIKNKDLEEL
17:10441086-10441086 G>A	0.0	2556	MELANOMA	-	-	-	-	MYH2	ENST00000245503,p.H495Y|uc010coi.3,p.H495Y|uc002gmp.4,p.H495Y|ENST00000397183,p.H495Y|NM_001100112,p.H495Y|uc010coj.3,p.H495Y|NM_017534,p.H495Y|ENST00000532183,p.H495Y	protein_coding	uc010coj.3	nonsynonymous SNV	exon15	c.C1483T	p.H495Y	FTNEKLQQFFNHHMFVLEQEEYKKE	FTNEKLQQFFNHYMFVLEQEEYKKE	1.0	7.0	unscreened	-	2556_17:10441086-10441086 G>A_FTNEKLQQFFNHYMFVLEQEEYKKE
17:45361929-45361929 G>A	1.0	2556	MELANOMA	-	-	-	-	ITGB3	ENST00000571680,p.G161D|uc002ilj.3,p.G161D|ENST00000559488,p.G161D|uc002ili.1,p.G161D|ENST00000435993,p.G114D|NM_000212,p.G161D	protein_coding, nonsense_mediated_decay	uc002ilj.3	nonsynonymous SNV	exon4	c.G482A	p.G161D	SMKDDLWSIQNLGTKLATQMRKLTS	SMKDDLWSIQNLDTKLATQMRKLTS	10.0	8.0	-	-	2556_17:45361929-45361929 G>A_SMKDDLWSIQNLDTKLATQMRKLTS
1:55174728-55174728 C>T	0.0	2556	MELANOMA	-	-	-	-	MROH7	ENST00000414150,p.R1237C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000414150	nonsynonymous SNV	exon23	c.C3709T	p.R1237C	LVPCMESIMTEDRLNEVKAATPRGQ	LVPCMESIMTEDCLNEVKAATPRGQ	3.0	9.0	unscreened	-	2556_1:55174728-55174728 C>T_LVPCMESIMTEDCLNEVKAATPRGQ
5:64595854-64595854 G>A	0.0	2556	MELANOMA	-	-	-	-	ADAMTS6	ENST00000381055,p.S443F|uc003jtr.1,p.S64F|uc003jtp.3,p.S443F|NM_197941,p.S443F|ENST00000464680,p.S443F|ENST00000536360,p.S443F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jtr.1	nonsynonymous SNV	exon9	c.C191T	p.S64F	MAAHITANTNPFSWSACSRDYITSF	MAAHITANTNPFFWSACSRDYITSF	5.0	2.0	-	-	2556_5:64595854-64595854 G>A_MAAHITANTNPFFWSACSRDYITSF
2:26706431-26706431 G>A	0.0	2556	MELANOMA	-	-	ID=COSM1019414;OCCURENCE=1(endometrium)	-	OTOF	uc002rhk.3,p.R431C|NM_001287489,p.R431C|ENST00000403946,p.R431C|ENST00000272371,p.R431C|NM_194248,p.R431C	retained_intron, protein_coding	uc002rhk.3	nonsynonymous SNV	exon13	c.C1291T	p.R431C	FYVKIYRAEGLPRMNTSLMANVKKA	FYVKIYRAEGLPCMNTSLMANVKKA	1.0	6.0	unscreened	-	2556_2:26706431-26706431 G>A_FYVKIYRAEGLPCMNTSLMANVKKA
1:55174728-55174728 C>T	0.0	2556	MELANOMA	-	-	-	-	MROH7	ENST00000421030,p.R1237C|uc010ooe.1,p.R1237C|NM_001291332,p.R755C|uc010ood.1,p.R755C|uc009vzr.1,p.R438C|ENST00000454855,p.R755C|ENST00000409996,p.R805C|NM_001039464,p.R1237C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ooe.1	nonsynonymous SNV	exon23	c.C3709T	p.R1237C	LVPCMESIMTEDRLNEVKAALDNLR	LVPCMESIMTEDCLNEVKAALDNLR	3.0	9.0	unscreened	-	2556_1:55174728-55174728 C>T_LVPCMESIMTEDCLNEVKAALDNLR
X:150869312-150869312 C>T	0.0	2556	MELANOMA	-	-	ID=COSM1117019;OCCURENCE=1(endometrium)	-	PRRG3	ENST00000370353,p.T168I|uc022cgt.1,p.T168I|ENST00000538575,p.T168I|NM_024082,p.T168I|uc004few.2,p.T168I	protein_coding	uc022cgt.1	nonsynonymous SNV	exon4	c.C503T	p.T168I	QVVLGPSRGGRTTVRLESTLYLPEL	QVVLGPSRGGRTIVRLESTLYLPEL	1.0	10.0	unscreened	-	2556_X:150869312-150869312 C>T_QVVLGPSRGGRTIVRLESTLYLPEL
X:68748968-68748968 G>A	0.0	2556	MELANOMA	-	-	-	-	FAM155B	ENST00000252338,p.E332K|NM_015686,p.E332K|uc004dxk.3,p.E332K	protein_coding	uc004dxk.3	nonsynonymous SNV	exon2	c.G994A	p.E332K	QTRCPFILPDNEEMVYGGLPGFICT	QTRCPFILPDNEKMVYGGLPGFICT	2.0	2.0	-	-	2556_X:68748968-68748968 G>A_QTRCPFILPDNEKMVYGGLPGFICT
17:61995744-61995744 G>A	0.0	2556	MELANOMA	-	-	-	-	GH1	NM_022559,p.R45C|NM_000515,p.R45C|uc002jdn.3,p.R45C|uc002jdk.3,p.R45C|ENST00000458650,p.R45C|ENST00000323322,p.R45C|NM_022560,p.R45C|uc002jdi.3,p.R45C|ENST00000351388,p.R45C|uc002jdj.3,p.R45C|uc002jdl.3,p.R45C|ENST00000342364,p.R45C	retained_intron, protein_coding	uc002jdn.3	nonsynonymous SNV	exon2	c.C133T	p.R45C	SRLFDNAMLRAHRLHQLAFDTYQEF	SRLFDNAMLRAHCLHQLAFDTYQEF	1.0	8.0	unscreened	-	2556_17:61995744-61995744 G>A_SRLFDNAMLRAHCLHQLAFDTYQEF
17:15516939-15516939 G>A	0.0	2556	MELANOMA	-	-	-	-	CDRT1	ENST00000395906,p.T330I|NM_006382,p.T330I|NM_001282540,p.T330I|ENST00000455584,p.T640I|uc002gor.1,p.T640I|uc002gov.4,p.T330I	retained_intron, protein_coding, nonsense_mediated_decay	uc002gov.4	nonsynonymous SNV	exon4	c.C989T	p.T330I	DLSAHGFIQNQITFLQGSYTRGIDP	DLSAHGFIQNQIIFLQGSYTRGIDP	3.0	4.0	-	-	2556_17:15516939-15516939 G>A_DLSAHGFIQNQIIFLQGSYTRGIDP
6:28540061-28540061 C>T	0.0	2556	MELANOMA	-	-	-	-	ZBED9	uc003nlo.3,p.G1202E|NM_052923,p.G1202E|ENST00000452236,p.G1202E	protein_coding, processed_transcript	uc003nlo.3	nonsynonymous SNV	exon4	c.G3605A	p.G1202E	EFYFPSKEDPRIGNLWIQNPFLSSK	EFYFPSKEDPRIENLWIQNPFLSSK	2.0	10.0	unscreened	-	2556_6:28540061-28540061 C>T_EFYFPSKEDPRIENLWIQNPFLSSK
X:69843846-69843846 G>A	0.0	2556	MELANOMA	-	-	-	-	TEX11	uc004dyk.3,p.R259C|ENST00000374333,p.R569C|ENST00000395889,p.R584C|NM_031276,p.R569C|NM_001003811,p.R584C|ENST00000374320,p.R259C|ENST00000344304,p.R584C|uc004dym.3,p.R569C|uc004dyl.3,p.R584C	protein_coding	uc004dym.3	nonsynonymous SNV	exon20	c.C1705T	p.R569C	QEQVLTAVKCLLRFLLPKIAEMPES	QEQVLTAVKCLLCFLLPKIAEMPES	1.0	9.0	unscreened	-	2556_X:69843846-69843846 G>A_QEQVLTAVKCLLCFLLPKIAEMPES
20:43881756-43881756 C>T	0.0	2556	MELANOMA	-	-	-	-	SLPI	ENST00000338380,p.G94D|NM_003064,p.G94D|uc002xnm.1,p.G94D	protein_coding	uc002xnm.1	nonsynonymous SNV	exon3	c.G281A	p.G94D	TRRKPGKCPVTYGQCLMLNPPNFCE	TRRKPGKCPVTYDQCLMLNPPNFCE	1.0	6.0	unscreened	-	2556_20:43881756-43881756 C>T_TRRKPGKCPVTYDQCLMLNPPNFCE
7:89909193-89909193 G>C	1.0	2556	MELANOMA	-	-	-	-	CFAP69	NM_001160138,p.W435S|uc011khk.2,p.W15S|NM_001039706,p.W453S|uc010lep.3,p.W453S|uc011khj.2,p.W435S|ENST00000389297,p.W453S|ENST00000316089,p.W453S|ENST00000457170,p.W336S|ENST00000449577,p.W36S|uc003ukg.2,p.W128S|ENST00000497910,p.W435S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011khk.2	nonsynonymous SNV	exon1	c.G44C	p.W15S	CQGNARVLAFLEWCESEDPFFSHGN	CQGNARVLAFLESCESEDPFFSHGN	5.0	10.0	-	-	2556_7:89909193-89909193 G>C_CQGNARVLAFLESCESEDPFFSHGN
2:30974067-30974067 C>T	0.0	2556	MELANOMA	-	-	ID=COSM1531755;OCCURENCE=1(lung)	-	CAPN13	ENST00000534090,p.E380K|NM_144575,p.E380K|uc021vfm.1,p.E380K|uc002rnp.1,p.E380K|ENST00000458085,p.E380K|ENST00000295055,p.E380K|uc021vfn.1,p.E380K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vfn.1	nonsynonymous SNV	exon10	c.G1138A	p.E380K	DAQFNFSVQEPMEGTNVVVCVTVAV	DAQFNFSVQEPMKGTNVVVCVTVAV	1.0	6.0	unscreened	-	2556_2:30974067-30974067 C>T_DAQFNFSVQEPMKGTNVVVCVTVAV
6:7579535-7579535 G>A	1.0	2556	MELANOMA	-	-	-	-	DSP	ENST00000379802,p.E1038K|ENST00000418664,p.E1038K|uc003mxq.1,p.E1038K|uc003mxp.1,p.E1038K|NM_001008844,p.E1038K|uc021yle.1,p.E1038K|NM_004415,p.E1038K	retained_intron, protein_coding	uc021yle.1	nonsynonymous SNV	exon23	c.G3112A	p.E1038K	DLKLKNTKIEVLEEELRLARDANSE	DLKLKNTKIEVLKEELRLARDANSE	7.0	1.0	-	-	2556_6:7579535-7579535 G>A_DLKLKNTKIEVLKEELRLARDANSE
7:150884754-150884754 G>A	0.0	2556	MELANOMA	-	-	-	-	ASB10	ENST00000415615,p.P19L|NM_080871,p.P19L|ENST00000377867,p.P19L|uc003wjn.1,p.P19L	protein_coding, nonsense_mediated_decay	uc003wjn.1	nonsynonymous SNV	exon1	c.C56T	p.P19L	SSPHWGHHLGCLPSAPACRIWRPHS	SSPHWGHHLGCLLSAPACRIWRPHS	1.0	1.0	unscreened	-	2556_7:150884754-150884754 G>A_SSPHWGHHLGCLLSAPACRIWRPHS
2:26717893-26717893 C>T	0.0	2556	MELANOMA	-	-	-	-	OTOF	NM_001287489,p.D272N|ENST00000403946,p.D272N|NM_194248,p.D272N|ENST00000272371,p.D272N|uc002rhk.3,p.D272N	retained_intron, protein_coding	uc002rhk.3	nonsynonymous SNV	exon9	c.G814A	p.D272N	VIEARQLVGLNMDPVVCVEVGDDKK	VIEARQLVGLNMNPVVCVEVGDDKK	1.0	5.0	unscreened	-	2556_2:26717893-26717893 C>T_VIEARQLVGLNMNPVVCVEVGDDKK
6:30997416-30997416 C>T	0.0	2556	MELANOMA	-	-	-	-	MUC22	NM_001198815,p.S1403F|ENST00000561890,p.S1403F|uc021yuh.1,p.S1406F|uc021yug.1,p.S1403F	protein_coding	uc021yuh.1	nonsynonymous SNV	exon3	c.C4217T	p.S1406F	TGSEMTTVFTTVSETTTVSTIGSEA	TGSEMTTVFTTVFETTTVSTIGSEA	1.0	1.0	unscreened	-	2556_6:30997416-30997416 C>T_TGSEMTTVFTTVFETTTVSTIGSEA
13:23808834-23808834 G>A	0.0	2556	MELANOMA	-	-	ID=COSM1706518;OCCURENCE=1(skin)	-	SGCG	ENST00000537476,p.E94K|ENST00000218867,p.E94K|uc009zzw.2,p.E94K|ENST00000545013,p.E94K|uc001uom.2,p.E94K|uc009zzv.2,p.E94K|NM_000231,p.E94K	protein_coding	uc009zzw.2	nonsynonymous SNV	exon4	c.G280A	p.E94K	GESEFLFPLYAKEIHSRVDSSLLLQ	GESEFLFPLYAKKIHSRVDSSLLLQ	1.0	6.0	unscreened	-	2556_13:23808834-23808834 G>A_GESEFLFPLYAKKIHSRVDSSLLLQ
18:9887938-9887938 C>T	0.0	2556	MELANOMA	-	-	-	-	TXNDC2	ENST00000357775,p.P421S|NM_001098529,p.P488S|uc002koi.4,p.P488S|NM_032243,p.P421S|uc002koh.4,p.P421S|uc021ugx.1,p.P421S|ENST00000306084,p.P488S	protein_coding, processed_transcript	uc021ugx.1	nonsynonymous SNV	exon1	c.C1261T	p.P421S	SATWCGPCRTIRPFFHALSVKHEDV	SATWCGPCRTIRSFFHALSVKHEDV	1.0	3.0	unscreened	-	2556_18:9887938-9887938 C>T_SATWCGPCRTIRSFFHALSVKHEDV
18:54694317-54694317 C>T	1.0	2556	MELANOMA	-	-	-	-	WDR7	uc002lgl.1,p.P1418L|NM_052834,p.P1418L|ENST00000357574,p.P1418L|NM_015285,p.P1451L|ENST00000254442,p.P1451L|ENST00000589935,p.P28L|uc002lgk.1,p.P1451L	retained_intron, protein_coding, nonsense_mediated_decay	uc002lgl.1	nonsynonymous SNV	exon27	c.C4253T	p.P1418L	PQLRCIKTYQVPPVQPASPGSHNAL	PQLRCIKTYQVPLVQPASPGSHNAL	7.0	4.0	-	-	2556_18:54694317-54694317 C>T_PQLRCIKTYQVPLVQPASPGSHNAL
5:45645472-45645472 A>T	0.0	2556	MELANOMA	-	-	-	-	HCN1	ENST00000303230,p.F222I|NM_021072,p.F222I|uc003jok.3,p.F222I	protein_coding	uc003jok.3	nonsynonymous SNV	exon2	c.T664A	p.F222I	PKVIKMNYLKSWFVVDFISSIPVDY	PKVIKMNYLKSWIVVDFISSIPVDY	3.0	2.0	-	-	2556_5:45645472-45645472 A>T_PKVIKMNYLKSWIVVDFISSIPVDY
7:140453136-140453136 A>T	1.0	2556	MELANOMA	-	-	ID=COSM476;OCCURENCE=3(adrenal_gland),3(urinary_tract),4(genital_tract),7(pancreas),16(liver),68(eye),2(prostate),4161(large_intestine),21(biliary_tract),11(breast),4377(skin),9(small_intestine),1(autonomic_ganglia),20(pituitary),242(ovary),32(soft_tissue),7(testis),459(haematopoietic_and_lymphoid_tissue),9534(thyroid),78(lung),1(meninges),12(upper_aerodigestive_tract),717(NS),15(bone),2(oesophagus),4(stomach),228(central_nervous_system)	1	BRAF	uc003vwc.4,p.V600E|ENST00000479537,p.V28E|ENST00000288602,p.V600E|NM_004333,p.V600E	retained_intron, protein_coding, nonsense_mediated_decay	uc003vwc.4	nonsynonymous SNV	exon15	c.T1799A	p.V600E	LTVKIGDFGLATVKSRWSGSHQFEQ	LTVKIGDFGLATEKSRWSGSHQFEQ	8.0	10.0	-	-	2556_7:140453136-140453136 A>T_LTVKIGDFGLATEKSRWSGSHQFEQ
3:102196349-102196349 G>A	0.0	2556	MELANOMA	-	-	ID=COSM3766830;OCCURENCE=1(liver)	-	ZPLD1	ENST00000491959,p.V379I|uc011bhg.1,p.V379I|uc003dvt.1,p.V395I|uc003dvs.1,p.V379I|ENST00000306176,p.V395I|NM_175056,p.V395I|ENST00000466937,p.V379I	protein_coding, processed_transcript	uc011bhg.1	nonsynonymous SNV	exon12	c.G1135A	p.V379I	LNAITSALISGMVILGVTSFSLLLC	LNAITSALISGMIILGVTSFSLLLC	1.0	6.0	unscreened	-	2556_3:102196349-102196349 G>A_LNAITSALISGMIILGVTSFSLLLC
2:109098256-109098256 G>A	1.0	2556	MELANOMA	-	-	-	-	GCC2	uc002tec.3,p.R1055K|NM_181453,p.R1055K|ENST00000393321,p.R35K|ENST00000309863,p.R1055K|uc002ted.3,p.R954K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ted.3	nonsynonymous SNV	exon9	c.G2861A	p.R954K	FEHRIEDLTRQLRNSTLQCETINSD	FEHRIEDLTRQLKNSTLQCETINSD	10.0	2.0	unscreened	-	2556_2:109098256-109098256 G>A_FEHRIEDLTRQLKNSTLQCETINSD
16:87960461-87960461 G>A	0.0	2556	MELANOMA	-	-	-	-	CA5A	ENST00000309893,p.P78L|uc002fkn.1,p.P78L|NM_001739,p.P78L	retained_intron, protein_coding, processed_transcript	uc002fkn.1	nonsynonymous SNV	exon2	c.C233T	p.P78L	PINIQWRDSVYDPQLKPLRVSYEAA	PINIQWRDSVYDLQLKPLRVSYEAA	1.0	2.0	unscreened	-	2556_16:87960461-87960461 G>A_PINIQWRDSVYDLQLKPLRVSYEAA
4:152570664-152570664 G>A	0.0	2556	MELANOMA	-	-	-	-	FAM160A1	uc003imj.2,p.E491K|ENST00000435205,p.E491K|NM_001109977,p.E491K|ENST00000505231,p.E491K	protein_coding, processed_transcript	uc003imj.2	nonsynonymous SNV	exon11	c.G1471A	p.E491K	FPEAFSESACIVEYGKALDISYLQY	FPEAFSESACIVKYGKALDISYLQY	4.0	9.0	-	-	2556_4:152570664-152570664 G>A_FPEAFSESACIVKYGKALDISYLQY
4:9784866-9784866 G>A	0.0	2556	MELANOMA	-	-	ID=COSM735232;OCCURENCE=1(lung)	-	DRD5	uc003gmb.4,p.E405K|NM_000798,p.E405K|ENST00000304374,p.E405K	protein_coding	uc003gmb.4	nonsynonymous SNV	exon1	c.G1213A	p.E405K	LISYNQDIVFHKEIAAAYIHMMPNA	LISYNQDIVFHKKIAAAYIHMMPNA	1.0	10.0	unscreened	-	2556_4:9784866-9784866 G>A_LISYNQDIVFHKKIAAAYIHMMPNA
X:49040116-49040117 GT>-	0.0	2556	MELANOMA	-	-	-	-	PRICKLE3	ENST00000536904,p.T60fs|ENST00000538114,p.T128fs|uc011mmy.1,p.T128fs|uc011mmw.1,p.T60fs	protein_coding	uc011mmy.1	frameshift deletion	exon3	c.382_383del	p.T128fs	QWVHTNAHTHTHTQAQYCTALEEEE	QWVHTNAHTHTHSGTVLHSTGRGGKERAPSL	5.0	1.0	unscreened	-	2556_X:49040116-49040117 GT>-_QWVHTNAHTHTHSGTVLHSTGRGGKERAPSL
2:179621293-179621293 G>A	0.0	2556	MELANOMA	-	-	-	-	TTN	uc021vsz.2,p.S3466F|ENST00000342175,p.S3466F|ENST00000589042,p.S3637F|uc031rqc.1,p.S3637F|NM_133437,p.S3466F|NM_001267550,p.S3637F	retained_intron, protein_coding	uc031rqc.1	nonsynonymous SNV	exon46	c.C10910T	p.S3637F	ASVQDTQLCHTASLSQIAESTELSK	ASVQDTQLCHTAFLSQIAESTELSK	2.0	7.0	unscreened	-	2556_2:179621293-179621293 G>A_ASVQDTQLCHTAFLSQIAESTELSK
X:49040116-49040117 GT>-	0.0	2556	MELANOMA	-	-	-	-	PRICKLE3	ENST00000417014,p.T128fs	protein_coding	ENST00000417014	frameshift deletion	exon3	c.382_383del	p.T128fs	QWVHTNAHTHTHTQVGTYFWGYARV	QWVHTNAHTHTHSGGNLFLGLR	5.0	1.0	unscreened	-	2556_X:49040116-49040117 GT>-_QWVHTNAHTHTHSGGNLFLGLR
7:141764222-141764222 C>T	0.0	2556	MELANOMA	-	-	-	-	MGAM	NM_004668,p.L1462F|ENST00000475668,p.L1462F|uc003vwy.3,p.L1462F|ENST00000549489,p.L1462F	retained_intron, protein_coding, processed_transcript	uc003vwy.3	nonsynonymous SNV	exon37	c.C4384T	p.L1462F	LESRDRGLSSKTLCMESQQILPDGS	LESRDRGLSSKTFCMESQQILPDGS	2.0	10.0	unscreened	-	2556_7:141764222-141764222 C>T_LESRDRGLSSKTFCMESQQILPDGS
19:33586671-33586671 C>T	1.0	2556	MELANOMA	-	-	-	-	GPATCH1	uc002nug.1,p.P186L|ENST00000170564,p.P186L|NM_018025,p.P186L	retained_intron, protein_coding, nonsense_mediated_decay	uc002nug.1	nonsynonymous SNV	exon6	c.C557T	p.P186L	RVKRRPRRQKPDPGVKIYGCALPPG	RVKRRPRRQKPDLGVKIYGCALPPG	6.0	10.0	-	-	2556_19:33586671-33586671 C>T_RVKRRPRRQKPDLGVKIYGCALPPG
15:48518754-48518754 G>A	0.0	2556	MELANOMA	-	-	-	-	SLC12A1	uc010uex.2,p.G237E|uc010uew.1,p.G43E|ENST00000558405,p.G237E|NM_000338,p.G237E|ENST00000330289,p.G237E|uc001zwn.4,p.G237E|ENST00000380993,p.G237E|ENST00000559641,p.G50E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uex.2	nonsynonymous SNV	exon4	c.G710A	p.G237E	ITGLSTSAIATNGFVRGGGAYYLIS	ITGLSTSAIATNEFVRGGGAYYLIS	1.0	2.0	unscreened	-	2556_15:48518754-48518754 G>A_ITGLSTSAIATNEFVRGGGAYYLIS
11:7110367-7110367 C>T	0.0	2556	MELANOMA	-	-	-	-	RBMXL2	uc001mfc.2,p.R6C|ENST00000306904,p.R6C|NM_014469,p.R6C	protein_coding	uc001mfc.2	nonsynonymous SNV	exon1	c.C16T	p.R6C	MVEADRPGKLFIGGLNLE	MVEADCPGKLFIGGLNLE	1.0	10.0	unscreened	-	2556_11:7110367-7110367 C>T_MVEADCPGKLFIGGLNLE
X:110644256-110644256 C>T	0.0	2556	MELANOMA	-	-	-	-	DCX	uc004epf.3,p.G223R|ENST00000371993,p.G223R|NM_178151,p.G223R|uc004epe.3,p.G223R|ENST00000356915,p.G223R|uc004epd.3,p.G304R|uc004epg.3,p.G223R|NM_001195553,p.G223R|NM_178152,p.G223R|uc011msv.2,p.G304R|ENST00000488120,p.G223R|ENST00000338081,p.G304R|ENST00000356220,p.G223R|NM_178153,p.G223R|NM_000555,p.G304R	protein_coding, processed_transcript	uc011msv.2	nonsynonymous SNV	exon3	c.G910A	p.G304R	LTDITEAIKLETGVVKKLYTLDGKQ	LTDITEAIKLETRVVKKLYTLDGKQ	1.0	10.0	unscreened	-	2556_X:110644256-110644256 C>T_LTDITEAIKLETRVVKKLYTLDGKQ
5:136964046-136964046 C>T	0.0	2556	MELANOMA	-	-	ID=COSM1061153;OCCURENCE=1(endometrium),1(skin)	-	KLHL3	ENST00000508657,p.D479N|NM_001257195,p.D429N|uc003lbr.5,p.D429N|uc031sle.1,p.D479N|ENST00000506491,p.D429N|ENST00000309755,p.D511N|NM_017415,p.D511N|NM_001257194,p.D479N|uc010jek.3,p.D511N|uc011cyc.2,p.D246N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031sle.1	nonsynonymous SNV	exon13	c.G1435A	p.D479N	DGPLVRKSVEVYDPGTNTWKQVADM	DGPLVRKSVEVYNPGTNTWKQVADM	4.0	1.0	unscreened	-	2556_5:136964046-136964046 C>T_DGPLVRKSVEVYNPGTNTWKQVADM
7:41729975-41729975 C>T	1.0	2556	MELANOMA	-	-	-	-	INHBA	uc003thr.3,p.S185N|NM_002192,p.S185N|ENST00000242208,p.S185N|ENST00000442711,p.S185N|uc003thq.3,p.S185N	protein_coding, processed_transcript	uc003thr.3	nonsynonymous SNV	exon3	c.G554A	p.S185N	IRLFQQQKHPQGSLDTGEEAEEVGL	IRLFQQQKHPQGNLDTGEEAEEVGL	8.0	1.0	unscreened	-	2556_7:41729975-41729975 C>T_IRLFQQQKHPQGNLDTGEEAEEVGL
8:144461183-144461183 C>T	1.0	2556	MELANOMA	-	-	-	-	RHPN1	uc003yyb.3,p.A229V|ENST00000289013,p.A229V|NM_052924,p.A229V	retained_intron, protein_coding	uc003yyb.3	nonsynonymous SNV	exon7	c.C686T	p.A229V	LFNIGALHTQIGARQDRSCTEGARR	LFNIGALHTQIGVRQDRSCTEGARR	5.0	4.0	-	-	2556_8:144461183-144461183 C>T_LFNIGALHTQIGVRQDRSCTEGARR
7:136699948-136699948 G>A	0.0	2556	MELANOMA	-	-	-	-	CHRM2	NM_000739,p.M112I|uc003vtj.1,p.M112I|uc003vti.1,p.M112I|uc003vtg.1,p.M112I|uc003vtl.1,p.M112I|NM_001006629,p.M112I|uc022ame.1,p.M112I|NM_001006627,p.M112I|NM_001006632,p.M112I|ENST00000401861,p.M112I|ENST00000445907,p.M112I|ENST00000453373,p.M112I|uc003vtn.1,p.M112I|uc003vtf.1,p.M112I|uc003vtk.1,p.M112I|ENST00000402486,p.M112I|NM_001006628,p.M112I|uc003vtm.1,p.M112I|NM_001006630,p.M112I|uc003vto.1,p.M112I|NM_001006631,p.M112I|NM_001006626,p.M112I|ENST00000397608,p.M112I|ENST00000320658,p.M112I	protein_coding, processed_transcript	uc022ame.1	nonsynonymous SNV	exon1	c.G336A	p.M112I	LALDYVVSNASVMNLLIISFDRYFC	LALDYVVSNASVINLLIISFDRYFC	1.0	1.0	unscreened	-	2556_7:136699948-136699948 G>A_LALDYVVSNASVINLLIISFDRYFC
13:84454820-84454820 G>A	0.0	2556	MELANOMA	-	-	-	-	SLITRK1	ENST00000377084,p.P275S|uc001vlk.3,p.P275S|NM_052910,p.P275S|NM_001281503,p.P275S	protein_coding	uc001vlk.3	nonsynonymous SNV	exon1	c.C823T	p.P275S	LKNRVDSSLPAPPAQEETFAPGPLP	LKNRVDSSLPAPSAQEETFAPGPLP	1.0	1.0	unscreened	-	2556_13:84454820-84454820 G>A_LKNRVDSSLPAPSAQEETFAPGPLP
1:176564382-176564382 C>T	0.0	2556	MELANOMA	-	-	-	-	PAPPA2	NM_020318,p.R548C|uc001gky.1,p.R548C|NM_021936,p.R548C|ENST00000367661,p.R548C|ENST00000367662,p.R548C|uc001gkz.3,p.R548C	protein_coding, processed_transcript	uc001gkz.3	nonsynonymous SNV	exon3	c.C1642T	p.R548C	EGLNPIVSEEQIRLQHEALNEAFSR	EGLNPIVSEEQICLQHEALNEAFSR	2.0	2.0	unscreened	-	2556_1:176564382-176564382 C>T_EGLNPIVSEEQICLQHEALNEAFSR
17:10348455-10348455 C>T	0.0	2556	MELANOMA	-	-	-	-	MYH4	ENST00000255381,p.M1768I|uc002gmn.3,p.M1768I|NM_017533,p.M1768I	protein_coding	uc002gmn.3	nonsynonymous SNV	exon37	c.G5304A	p.M1768I	EEKAKKAITDAAMMAEELKKEQDTS	EEKAKKAITDAAIMAEELKKEQDTS	1.0	7.0	unscreened	-	2556_17:10348455-10348455 C>T_EEKAKKAITDAAIMAEELKKEQDTS
6:75852999-75852999 C>T	1.0	2556	MELANOMA	-	-	ID=COSM3381714;OCCURENCE=2(pancreas)	-	COL12A1	uc021zbw.1,p.R435Q|ENST00000416123,p.R1599Q|uc003pht.3,p.R435Q|uc021zbv.1,p.R1599Q|ENST00000322507,p.R1599Q|NM_004370,p.R1599Q|uc003phs.3,p.R1599Q|ENST00000345356,p.R435Q|ENST00000483888,p.R1599Q|NM_080645,p.R435Q	retained_intron, protein_coding, processed_transcript	uc021zbw.1	nonsynonymous SNV	exon10	c.G1304A	p.R435Q	EPVPGKVRKYIVRYKTPEEDVKEVE	EPVPGKVRKYIVQYKTPEEDVKEVE	8.0	8.0	-	-	2556_6:75852999-75852999 C>T_EPVPGKVRKYIVQYKTPEEDVKEVE
12:56087861-56087861 C>T	1.0	2556	MELANOMA	-	-	-	-	ITGA7	ENST00000257880,p.E871K|uc001shg.3,p.E827K|NM_002206,p.E827K|ENST00000555728,p.E871K|ENST00000553804,p.E831K|uc009znw.3,p.E74K|NM_001144996,p.E831K|ENST00000257879,p.E827K|NM_001144997,p.E734K|ENST00000347027,p.E821K|ENST00000452168,p.E734K|ENST00000394230,p.E831K|uc001shh.3,p.E831K|ENST00000394229,p.E827K|uc010sps.2,p.E734K|uc009znx.3,p.E708K	retained_intron, protein_coding, nonsense_mediated_decay	uc010sps.2	nonsynonymous SNV	exon19	c.G2200A	p.E734K	PQQLFFSGVVRGERAMQSERDVGSK	PQQLFFSGVVRGKRAMQSERDVGSK	8.0	10.0	-	-	2556_12:56087861-56087861 C>T_PQQLFFSGVVRGKRAMQSERDVGSK
5:43280454-43280454 G>A	0.0	2556	MELANOMA	-	-	-	-	NIM1K	ENST00000512796,p.E312K|uc003jno.4,p.E312K|ENST00000326035,p.E312K|uc031sjg.1,p.E312K|NM_153361,p.E312K	protein_coding, processed_transcript	uc031sjg.1	nonsynonymous SNV	exon4	c.G934A	p.E312K	RLIRGVLQQIPTERYGIDCIMNDEW	RLIRGVLQQIPTKRYGIDCIMNDEW	4.0	5.0	unscreened	-	2556_5:43280454-43280454 G>A_RLIRGVLQQIPTKRYGIDCIMNDEW
X:78618468-78618468 G>A	0.0	2556	MELANOMA	-	-	-	-	ITM2A	uc011mqr.2,p.P94S|NM_004867,p.P138S|ENST00000373298,p.P138S|ENST00000434584,p.P94S|uc004edh.3,p.P138S|NM_001171581,p.P94S	protein_coding, processed_transcript	uc011mqr.2	nonsynonymous SNV	exon2	c.C280T	p.P94S	IDVPVPSFSDSDPAAIIHDFEKGMT	IDVPVPSFSDSDSAAIIHDFEKGMT	4.0	3.0	-	-	2556_X:78618468-78618468 G>A_IDVPVPSFSDSDSAAIIHDFEKGMT
11:5364483-5364483 C>T	0.0	2556	MELANOMA	-	-	-	-	OR51B5	ENST00000300773,p.G91E|uc001maq.2,p.G91E|uc001map.1,p.G91E|NM_001005567,p.G91E	protein_coding	uc001maq.2	nonsynonymous SNV	exon5	c.G272A	p.G91E	VLGVLWLDHREIGSAACFSQAYFIH	VLGVLWLDHREIESAACFSQAYFIH	2.0	5.0	unscreened	-	2556_11:5364483-5364483 C>T_VLGVLWLDHREIESAACFSQAYFIH
10:50178234-50178234 C>T	0.0	2556	MELANOMA	-	-	-	-	WDFY4	uc010qgn.1,p.P406L|ENST00000325239,p.P2943L|uc009xob.3,p.P399L|NM_020945,p.P2943L|uc001jha.4,p.P2943L	protein_coding, processed_transcript	uc010qgn.1	nonsynonymous SNV	exon11	c.C1217T	p.P406L	LAAWGRCLCAVCPSPTTIVTSGTST	LAAWGRCLCAVCLSPTTIVTSGTST	1.0	6.0	unscreened	-	2556_10:50178234-50178234 C>T_LAAWGRCLCAVCLSPTTIVTSGTST
17:7758773-7758773 C>T	0.0	2556	MELANOMA	-	-	-	-	TMEM88	uc002giy.3,p.S74F|NM_203411,p.S74F|ENST00000301599,p.S74F	protein_coding	uc002giy.3	nonsynonymous SNV	exon2	c.C221T	p.S74F	GFGFLCHSQFLRSQAPPCTAHLRDP	GFGFLCHSQFLRFQAPPCTAHLRDP	3.0	7.0	-	-	2556_17:7758773-7758773 C>T_GFGFLCHSQFLRFQAPPCTAHLRDP
6:110763731-110763731 C>T	0.0	2556	MELANOMA	0.0018	-	-	-	SLC22A16	uc003pue.3,p.R281Q|ENST00000451557,p.R217Q|ENST00000437378,p.R257Q|ENST00000434949,p.R130Q|NM_033125,p.R300Q|ENST00000439654,p.R300Q|ENST00000330550,p.R266Q|ENST00000368919,p.R300Q|uc003puf.3,p.R300Q	protein_coding, processed_transcript	uc003puf.3	nonsynonymous SNV	exon4	c.G899A	p.R300Q	LPETPFWLLSEGRYEEAQKIVDIMA	LPETPFWLLSEGQYEEAQKIVDIMA	2.0	10.0	unscreened	-	2556_6:110763731-110763731 C>T_LPETPFWLLSEGQYEEAQKIVDIMA
2:233748832-233748832 G>A	0.0	2556	MELANOMA	-	-	-	-	NGEF	ENST00000373552,p.S395F|ENST00000539537,p.S210F|uc002vts.2,p.S487F|uc010zmm.1,p.S210F|ENST00000264051,p.S487F|NM_001114090,p.S395F|NM_019850,p.S487F|uc010fyg.1,p.S395F	retained_intron, protein_coding	uc010zmm.1	nonsynonymous SNV	exon7	c.C629T	p.S210F	EFKIKSVPIISHSRWLLKQGELQQM	EFKIKSVPIISHFRWLLKQGELQQM	4.0	6.0	unscreened	-	2556_2:233748832-233748832 G>A_EFKIKSVPIISHFRWLLKQGELQQM
8:133089996-133089996 G>A	0.0	2556	MELANOMA	-	-	-	-	HHLA1	ENST00000434736,p.P419L|uc003yth.2,p.P240L|NM_001145095,p.P383L|ENST00000262283,p.P125L|ENST00000414222,p.P383L|uc011liy.1,p.P383L	 protein_coding,protein_coding,retained_intron	uc011liy.1	nonsynonymous SNV	exon11	c.C1148T	p.P383L	APAAEIMATPGSPSQASPTLGAFTH	APAAEIMATPGSLSQASPTLGAFTH	1.0	2.0	unscreened	-	2556_8:133089996-133089996 G>A_APAAEIMATPGSLSQASPTLGAFTH
16:1252066-1252066 C>T	0.0	2556	MELANOMA	-	-	-	-	CACNA1H	ENST00000565831,p.P539L|NM_021098,p.P539L|ENST00000348261,p.P539L|uc002ckt.3,p.P539L|ENST00000358590,p.P539L|NM_001005407,p.P539L|uc002cks.3,p.P539L	retained_intron, protein_coding	uc002ckt.3	nonsynonymous SNV	exon9	c.C1616T	p.P539L	HHYHFSHGSPRRPGPEPGACDTRLV	HHYHFSHGSPRRLGPEPGACDTRLV	4.0	9.0	-	-	2556_16:1252066-1252066 C>T_HHYHFSHGSPRRLGPEPGACDTRLV
4:71388518-71388518 A>G	0.0	2556	MELANOMA	-	-	-	-	AMTN	uc010ihy.1,p.D33G|NM_212557,p.D34G|ENST00000504451,p.D33G|ENST00000339336,p.D34G|NM_001286731,p.D33G|uc003hfk.1,p.D34G	protein_coding	uc010ihy.1	nonsynonymous SNV	exon3	c.A98G	p.D33G	PALGLPPTKLAPDQGTLPNQQQSNQ	PALGLPPTKLAPGQGTLPNQQQSNQ	1.0	10.0	unscreened	-	2556_4:71388518-71388518 A>G_PALGLPPTKLAPGQGTLPNQQQSNQ
10:7774362-7774362 C>T	0.0	2556	MELANOMA	-	-	ID=COSM110589;OCCURENCE=1(skin)	-	ITIH2	uc001ijs.3,p.S570L|NM_002216,p.S570L|ENST00000379587,p.S559L|ENST00000358415,p.S570L	retained_intron, protein_coding, processed_transcript	uc001ijs.3	nonsynonymous SNV	exon14	c.C1709T	p.S570L	TLAQMDDLQDFLSKDKHADPDFTRK	TLAQMDDLQDFLLKDKHADPDFTRK	1.0	5.0	unscreened	-	2556_10:7774362-7774362 C>T_TLAQMDDLQDFLLKDKHADPDFTRK
11:562370-562370 C>G	1.0	2556	MELANOMA	-	-	-	-	RASSF7	NM_001143994,p.P139R|NM_001143993,p.P139R|uc001lqd.3,p.P139R|uc001lqc.3,p.P139R|uc001lqb.3,p.P139R|ENST00000454668,p.P139R|ENST00000431809,p.P139R|ENST00000397583,p.P139R|ENST00000397582,p.P139R|NM_003475,p.P139R|ENST00000344375,p.P139R	protein_coding, processed_transcript, nonsense_mediated_decay	uc001lqd.3	nonsynonymous SNV	exon3	c.C416G	p.P139R	TLTPEPAPSLSRPGPAAPVTPTPGC	TLTPEPAPSLSRRGPAAPVTPTPGC	5.0	9.0	-	-	2556_11:562370-562370 C>G_TLTPEPAPSLSRRGPAAPVTPTPGC
19:56423937-56423937 C>T	0.0	2556	MELANOMA	-	-	ID=COSM1712900;OCCURENCE=1(skin)	-	NLRP13	NM_176810,p.E416K|uc010ygg.2,p.E416K|ENST00000342929,p.E416K|ENST00000588751,p.E416K	protein_coding	uc010ygg.2	nonsynonymous SNV	exon5	c.G1246A	p.E416K	EVEKILQQLRKNETLFHSCSAPMVC	EVEKILQQLRKNKTLFHSCSAPMVC	1.0	10.0	unscreened	-	2556_19:56423937-56423937 C>T_EVEKILQQLRKNKTLFHSCSAPMVC
11:8161620-8161620 G>A	0.0	2556	MELANOMA	-	-	-	-	RIC3	ENST00000309737,p.S82L|uc009yfm.2,p.S82L|ENST00000343202,p.S82L|NM_001206671,p.S82L|ENST00000425599,p.S82L|ENST00000419822,p.S82L|NM_001206672,p.S82L|uc001mgf.4,p.S82L|NM_024557,p.S82L|ENST00000539720,p.S33L|uc001mgc.2,p.S82L|uc001mgd.2,p.S82L|ENST00000531450,p.S82L|uc010rbm.1,p.S82L|uc010rbl.1,p.S32L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010rbm.1	nonsynonymous SNV	exon2	c.C245T	p.S82L	SHLAEAFAKAKGSGGGAGGGGSGRG	SHLAEAFAKAKGLGGGAGGGGSGRG	2.0	9.0	unscreened	-	2556_11:8161620-8161620 G>A_SHLAEAFAKAKGLGGGAGGGGSGRG
2:186671569-186671569 G>A	0.0	2556	MELANOMA	-	-	-	-	FSIP2	ENST00000343098,p.V5935I|NM_173651,p.V5935I|uc002upl.3,p.V5935I|ENST00000424728,p.V5846I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon17	c.G17803A	p.V5935I	SLLKEFSDAQIKVFRPDKGNQFPGG	SLLKEFSDAQIKIFRPDKGNQFPGG	1.0	2.0	unscreened	-	2556_2:186671569-186671569 G>A_SLLKEFSDAQIKIFRPDKGNQFPGG
22:38111911-38111911 G>A	1.0	2556	MELANOMA	-	-	-	-	TRIOBP	NM_001039141,p.G200R|uc003atr.3,p.G200R|uc003ats.1,p.G28R|uc003atq.1,p.G200R|ENST00000406386,p.G200R|uc003atu.3,p.G28R	retained_intron, protein_coding, nonsense_mediated_decay	uc003atu.3	nonsynonymous SNV	exon4	c.G82A	p.G28R	QRAPSLLTRSPVGGDAAGQKKEDTG	QRAPSLLTRSPVRGDAAGQKKEDTG	10.0	2.0	-	-	2556_22:38111911-38111911 G>A_QRAPSLLTRSPVRGDAAGQKKEDTG
1:214170833-214170833 G>A	1.0	2556	MELANOMA	-	-	-	-	PROX1	ENST00000498508,p.E319K|uc001hkg.2,p.E319K|uc001hkh.4,p.E319K|ENST00000366958,p.E319K|ENST00000435016,p.E319K|NM_001270616,p.E319K|ENST00000261454,p.E319K|NM_002763,p.E319K	protein_coding	uc001hkh.4	nonsynonymous SNV	exon2	c.G955A	p.E319K	FIDRARALIREQEMAENKPKREGNN	FIDRARALIREQKMAENKPKREGNN	8.0	1.0	-	-	2556_1:214170833-214170833 G>A_FIDRARALIREQKMAENKPKREGNN
10:55955504-55955504 G>A	0.0	2556	MELANOMA	-	-	-	-	PCDH15	uc001jju.1,p.S415L|uc021pqx.1,p.S415L|uc010qhy.1,p.S420L|ENST00000448885,p.S415L|uc010qhv.1,p.S415L|uc001jjv.1,p.S393L|uc010qht.2,p.S415L|ENST00000395446,p.S415L|ENST00000395430,p.S415L|uc010qhx.1,p.S415L|uc021pqz.1,p.S393L|ENST00000395438,p.S415L|uc010qib.1,p.S393L|NM_001142767,p.S378L|ENST00000373955,p.S415L|ENST00000395445,p.S415L|ENST00000437009,p.S415L|NM_033056,p.S415L|NM_001142763,p.S420L|ENST00000409834,p.S19L|NM_001142766,p.S415L|ENST00000395433,p.S393L|NM_001142768,p.S393L|uc010qhw.1,p.S378L|ENST00000395440,p.S415L|uc001jjw.3,p.S415L|NM_001142773,p.S393L|uc010qhr.2,p.S415L|NM_001142764,p.S415L|ENST00000320301,p.S415L|NM_001142765,p.S415L|uc010qia.1,p.S393L|ENST00000373957,p.S393L|ENST00000361849,p.S415L|uc010qhz.1,p.S415L|ENST00000395432,p.S378L|uc021pqy.1,p.S415L|uc021pqv.1,p.S415L|ENST00000414778,p.S420L|uc010qhq.2,p.S420L|uc021pqw.1,p.S420L|ENST00000373965,p.S415L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqz.1	nonsynonymous SNV	exon9	c.C1178T	p.S393L	YILESAPVGATISDSLNLTSPLRIV	YILESAPVGATILDSLNLTSPLRIV	1.0	5.0	unscreened	-	2556_10:55955504-55955504 G>A_YILESAPVGATILDSLNLTSPLRIV
8:27312126-27312126 G>A	0.0	2556	MELANOMA	-	-	ID=COSM131805;OCCURENCE=1(skin)	-	PTK2B	uc022ate.1,p.E938K|NM_004103,p.E938K|ENST00000338238,p.E896K|ENST00000544172,p.E938K|ENST00000517339,p.E896K|ENST00000346049,p.E938K|uc003xfn.2,p.E938K|NM_173175,p.E896K|ENST00000420218,p.E896K|ENST00000397501,p.E938K|NM_173174,p.E938K|uc003xfq.2,p.E896K|NM_173176,p.E938K|uc003xfp.2,p.E938K	retained_intron, protein_coding, processed_transcript	uc022ate.1	nonsynonymous SNV	exon31	c.G2812A	p.E938K	DLLPSLPSSSRTEIEGTQKLLNKDL	DLLPSLPSSSRTKIEGTQKLLNKDL	5.0	2.0	-	-	2556_8:27312126-27312126 G>A_DLLPSLPSSSRTKIEGTQKLLNKDL
16:71220767-71220767 C>T	0.0	2556	MELANOMA	-	-	-	-	HYDIN	NM_001198543,p.G28E|ENST00000541601,p.G28E|uc002ezw.4,p.G28E|NM_001198542,p.G38E|uc010vmd.2,p.G38E|ENST00000538248,p.G38E|ENST00000288168,p.G28E|uc010vmc.2,p.G28E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vmd.2	nonsynonymous SNV	exon2	c.G113A	p.G38E	LKMTSRRLEESMGAVQMGLVNMFKG	LKMTSRRLEESMEAVQMGLVNMFKG	3.0	3.0	unscreened	-	2556_16:71220767-71220767 C>T_LKMTSRRLEESMEAVQMGLVNMFKG
4:138451538-138451538 C>T	1.0	2556	MELANOMA	-	-	-	-	PCDH18	NM_019035,p.E569K|ENST00000344876,p.E569K|uc003ihg.4,p.E349K|NM_001300828,p.E569K|ENST00000412923,p.E569K|uc003ihe.4,p.E569K|uc003ihf.4,p.E562K|ENST00000507846,p.E349K	protein_coding	uc003ihg.4	nonsynonymous SNV	exon2	c.G1045A	p.E349K	VSNTTVVLTIIDENDNVPVVIGPAL	VSNTTVVLTIIDKNDNVPVVIGPAL	5.0	3.0	-	-	2556_4:138451538-138451538 C>T_VSNTTVVLTIIDKNDNVPVVIGPAL
14:21025114-21025114 C>T	0.0	2556	MELANOMA	-	-	-	-	RNASE9	ENST00000557068,p.D39N|uc001vxq.4,p.D44N|uc010aho.3,p.D39N|NM_001110356,p.D39N|uc010ahq.3,p.D44N|NM_001001673,p.D39N|ENST00000557209,p.D44N|uc010ahr.3,p.D44N|uc021rnt.1,p.D39N|NM_001110360,p.D44N|uc010aht.3,p.D39N|ENST00000553706,p.D44N|ENST00000404716,p.D44N|NM_001110361,p.D44N|NM_001110358,p.D44N|ENST00000429244,p.D39N|uc010ahp.3,p.D44N|uc010ahs.3,p.D39N|NM_001289110,p.D39N|ENST00000555230,p.D39N|ENST00000338904,p.D39N|ENST00000556208,p.D44N|NM_001110359,p.D44N|uc010ahu.3,p.D39N|ENST00000554964,p.D39N|ENST00000553541,p.D39N|NM_001110357,p.D39N	protein_coding	uc021rnt.1	nonsynonymous SNV	exon1	c.G115A	p.D39N	QEVDTDFDFPEEDKKEEFEECLEKF	QEVDTDFDFPEENKKEEFEECLEKF	1.0	10.0	unscreened	-	2556_14:21025114-21025114 C>T_QEVDTDFDFPEENKKEEFEECLEKF
4:100756845-100756845 G>A	0.0	2556	MELANOMA	-	-	-	-	DAPP1	ENST00000512369,p.G56D|NM_014395,p.G56D|uc003hvf.4,p.G56D|uc011cek.2,p.G56D|uc010ilh.3,p.G56D|ENST00000296414,p.G56D	retained_intron, protein_coding	uc011cek.2	nonsynonymous SNV	exon2	c.G167A	p.G56D	AAEALLLSNGCDGSYLLRDSNETTG	AAEALLLSNGCDDSYLLRDSNETTG	1.0	9.0	unscreened	-	2556_4:100756845-100756845 G>A_AAEALLLSNGCDDSYLLRDSNETTG
1:216108089-216108089 C>T	0.0	2556	MELANOMA	-	-	-	-	USH2A	ENST00000307340,p.G2390E|ENST00000366943,p.G2390E|NM_206933,p.G2390E|uc001hku.1,p.G2390E	retained_intron, protein_coding	uc001hku.1	nonsynonymous SNV	exon38	c.G7169A	p.G2390E	YTLLNVTKVMYSGEETNLWVLIDGL	YTLLNVTKVMYSEEETNLWVLIDGL	1.0	9.0	unscreened	-	2556_1:216108089-216108089 C>T_YTLLNVTKVMYSEEETNLWVLIDGL
19:855784-855784 G>A	0.0	2556	MELANOMA	-	-	-	-	ELANE	uc002lqb.3,p.G196D|ENST00000263621,p.G196D|NM_001972,p.G196D|ENST00000590230,p.G196D	protein_coding	uc002lqb.3	nonsynonymous SNV	exon4	c.G587A	p.G196D	SNVCTLVRGRQAGVCFGDSGSPLVC	SNVCTLVRGRQADVCFGDSGSPLVC	1.0	10.0	unscreened	-	2556_19:855784-855784 G>A_SNVCTLVRGRQADVCFGDSGSPLVC
X:41333868-41333868 G>A	0.0	2556	MELANOMA	-	-	-	-	NYX	uc011mku.1,p.D388N|ENST00000378220,p.D388N|ENST00000342595,p.D388N|uc004dfh.2,p.D388N|NM_022567,p.D388N	protein_coding, processed_transcript	uc011mku.1	nonsynonymous SNV	exon3	c.G1162A	p.D388N	VTFGRSSDGLCVDPEELNLTTSSPG	VTFGRSSDGLCVNPEELNLTTSSPG	1.0	4.0	unscreened	-	2556_X:41333868-41333868 G>A_VTFGRSSDGLCVNPEELNLTTSSPG
8:86250541-86250541 C>T	0.0	2556	MELANOMA	-	-	-	-	CA1	NM_001128830,p.E59K|ENST00000523858,p.E59K|ENST00000522662,p.E59K|NM_001164830,p.E59K|ENST00000522579,p.E59K|ENST00000522814,p.E59K|ENST00000521846,p.E59K|ENST00000431316,p.E59K|ENST00000432364,p.E59K|ENST00000523953,p.E59K|ENST00000517590,p.E59K|ENST00000523022,p.E59K|uc022axc.1,p.E59K|NM_001128831,p.E59K|NM_001128829,p.E59K|uc003ydi.3,p.E59K|uc022axd.1,p.E59K|ENST00000517618,p.E59K|ENST00000517429,p.E59K|ENST00000542576,p.E59K|uc003ydh.3,p.E59K|uc010mae.2,p.E59K|ENST00000256119,p.E59K|NM_001738,p.E59K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022axd.1	nonsynonymous SNV	exon4	c.G175A	p.E59K	PISVSYNPATAKEIINVGHSFHVNF	PISVSYNPATAKKIINVGHSFHVNF	1.0	3.0	unscreened	-	2556_8:86250541-86250541 C>T_PISVSYNPATAKKIINVGHSFHVNF
19:51890415-51890415 C>T	0.0	2556	MELANOMA	-	-	-	-	LIM2	uc002pwl.2,p.G95R|NM_030657,p.G95R|ENST00000221973,p.G95R	protein_coding	uc002pwl.2	nonsynonymous SNV	exon2	c.G283A	p.G95R	LYSRWRTLRLKEGKGATQAYWNATR	LYSRWRTLRLKERKGATQAYWNATR	1.0	10.0	unscreened	-	2556_19:51890415-51890415 C>T_LYSRWRTLRLKERKGATQAYWNATR
X:34961696-34961696 G>A	0.0	2556	MELANOMA	-	-	-	-	FAM47B	ENST00000329357,p.D250N|NM_152631,p.D250N|uc004ddi.2,p.D250N	protein_coding	uc004ddi.2	nonsynonymous SNV	exon1	c.G748A	p.D250N	EPPETRASHLRVDPPETGVSHLCPE	EPPETRASHLRVNPPETGVSHLCPE	1.0	9.0	unscreened	-	2556_X:34961696-34961696 G>A_EPPETRASHLRVNPPETGVSHLCPE
10:50025404-50025404 G>A	0.0	2556	MELANOMA	-	-	-	-	WDFY4	NM_020945,p.E1819K|ENST00000325239,p.E1819K|uc001jha.4,p.E1819K|uc001jhb.1,p.E347K	protein_coding, processed_transcript	uc001jhb.1	nonsynonymous SNV	exon9	c.G1039A	p.E347K	RTYPQDPAWRAPEFLQTLAIAAFPL	RTYPQDPAWRAPKFLQTLAIAAFPL	1.0	8.0	unscreened	-	2556_10:50025404-50025404 G>A_RTYPQDPAWRAPKFLQTLAIAAFPL
7:141860024-141860024 C>T	0.0	2556	MELANOMA	-	-	-	-	LOC93432	ENST00000477922,p.P771S|NM_001293626,p.P771S	retained_intron, protein_coding	NM_001293626	nonsynonymous SNV	exon21	c.C2311T	p.P771S	KIGLHLRGGYIFPTQKPNTTTEASR	KIGLHLRGGYIFSTQKPNTTTEASR	3.0	1.0	unscreened	-	2556_7:141860024-141860024 C>T_KIGLHLRGGYIFSTQKPNTTTEASR
X:34961579-34961579 C>T	0.0	2556	MELANOMA	-	-	-	-	FAM47B	ENST00000329357,p.R211C|uc004ddi.2,p.R211C|NM_152631,p.R211C	protein_coding	uc004ddi.2	nonsynonymous SNV	exon1	c.C631T	p.R211C	LRPQLPKTPVSSRRPEPPKTRVSSL	LRPQLPKTPVSSCRPEPPKTRVSSL	1.0	10.0	unscreened	-	2556_X:34961579-34961579 C>T_LRPQLPKTPVSSCRPEPPKTRVSSL
2:124999836-124999836 G>A	0.0	2556	MELANOMA	-	-	-	-	CNTNAP5	uc010flu.3,p.G83R|uc002tno.3,p.G83R|NM_130773,p.G83R|ENST00000431078,p.G83R	retained_intron, protein_coding, processed_transcript	uc010flu.3	nonsynonymous SNV	exon3	c.G247A	p.G83R	DSNAQQWLQMDLGNRVEITAVATQG	DSNAQQWLQMDLRNRVEITAVATQG	1.0	1.0	unscreened	-	2556_2:124999836-124999836 G>A_DSNAQQWLQMDLRNRVEITAVATQG
7:141731579-141731579 G>A	0.0	2556	MELANOMA	-	-	-	-	MGAM	NM_004668,p.D524N|ENST00000475668,p.D524N|ENST00000549489,p.D524N|uc003vwy.3,p.D524N	retained_intron, protein_coding, processed_transcript	uc003vwy.3	nonsynonymous SNV	exon13	c.G1570A	p.D524N	KEFELFHNQVEFDGIWIDMNEVSNF	KEFELFHNQVEFNGIWIDMNEVSNF	2.0	10.0	unscreened	-	2556_7:141731579-141731579 G>A_KEFELFHNQVEFNGIWIDMNEVSNF
14:92909140-92909140 T>G	0.0	2556	MELANOMA	-	-	-	-	SLC24A4	ENST00000531433,p.C188G|uc010twm.2,p.C188G|uc001yak.3,p.C188G|NM_153647,p.C188G|uc001yai.3,p.C124G|NM_153648,p.C124G|ENST00000298877,p.C171G|ENST00000351924,p.C171G|NM_153646,p.C188G|ENST00000532405,p.C188G|uc010auj.3,p.C79G|ENST00000393265,p.C124G	retained_intron, protein_coding, processed_transcript	uc010twm.2	nonsynonymous SNV	exon7	c.T562G	p.C188G	SAVFNILCIIGVCGLFAGQVVRLTW	SAVFNILCIIGVGGLFAGQVVRLTW	4.0	6.0	-	-	2556_14:92909140-92909140 T>G_SAVFNILCIIGVGGLFAGQVVRLTW
4:69683785-69683785 G>A	0.0	2556	MELANOMA	-	-	-	-	UGT2B10	ENST00000265403,p.D253N|uc011cam.2,p.D169N|ENST00000458688,p.D169N|NM_001075,p.D253N|uc003hee.3,p.D253N|NM_001144767,p.D169N	protein_coding	uc011cam.2	nonsynonymous SNV	exon2	c.G505A	p.D169N	RPTTLSETMRKADIWLMRNSWNFKF	RPTTLSETMRKANIWLMRNSWNFKF	2.0	2.0	unscreened	-	2556_4:69683785-69683785 G>A_RPTTLSETMRKANIWLMRNSWNFKF
12:7653836-7653836 G>A	0.0	2556	MELANOMA	-	-	-	-	CD163	ENST00000541972,p.S107F|uc009zfw.2,p.S119F|ENST00000396620,p.S119F|ENST00000432237,p.S119F|uc001qsz.3,p.S119F|NM_203416,p.S119F|NM_004244,p.S119F|uc001qta.3,p.S119F|ENST00000359156,p.S119F	retained_intron, protein_coding, processed_transcript	uc009zfw.2	nonsynonymous SNV	exon3	c.C356T	p.S119F	SAGSGRIWMDHVSCRGNESALWDCK	SAGSGRIWMDHVFCRGNESALWDCK	1.0	3.0	unscreened	-	2556_12:7653836-7653836 G>A_SAGSGRIWMDHVFCRGNESALWDCK
12:13715923-13715923 C>T	0.0	2556	MELANOMA	-	-	-	-	GRIN2B	ENST00000279593,p.A1417T|uc001rbt.2,p.A1417T|NM_000834,p.A1417T	protein_coding	uc001rbt.2	nonsynonymous SNV	exon13	c.G4249A	p.A1417T	FFRQPTVAGASKARPDFRALVTNKP	FFRQPTVAGASKTRPDFRALVTNKP	1.0	10.0	unscreened	-	2556_12:13715923-13715923 C>T_FFRQPTVAGASKTRPDFRALVTNKP
7:123599659-123599659 G>A	0.0	2556	MELANOMA	-	-	-	-	SPAM1	NM_001174044,p.R389K|uc010lku.3,p.R389K|ENST00000402183,p.R389K|uc022aks.1,p.R389K|NM_001174045,p.R389K|NM_001174046,p.R389K|uc003vld.3,p.R389K|ENST00000460182,p.R389K|ENST00000340011,p.R389K|uc003vlf.4,p.R389K|uc003vle.3,p.R389K|uc011koa.1,p.R45K|NM_003117,p.R389K|NM_153189,p.R389K|ENST00000223028,p.R389K|ENST00000439500,p.R389K	protein_coding	uc022aks.1	nonsynonymous SNV	exon5	c.G1166A	p.R389K	SQVLCQEQGVCIRKNWNSSDYLHLN	SQVLCQEQGVCIKKNWNSSDYLHLN	1.0	10.0	unscreened	-	2556_7:123599659-123599659 G>A_SQVLCQEQGVCIKKNWNSSDYLHLN
12:117725937-117725937 C>T	0.0	2556	MELANOMA	-	-	-	-	NOS1	uc001twn.2,p.G357R|uc001twm.2,p.G357R|NM_000620,p.G357R|NM_001204218,p.G357R|NM_001204213,p.G21R|ENST00000317775,p.G357R|NM_001204214,p.G21R|uc021reo.1,p.G21R|ENST00000338101,p.G357R|uc021ren.1,p.G21R	protein_coding, processed_transcript	uc021reo.1	nonsynonymous SNV	exon4	c.G61A	p.G21R	QHARRPEDVRTKGQLFPLAKEFIDQ	QHARRPEDVRTKRQLFPLAKEFIDQ	1.0	10.0	unscreened	-	2556_12:117725937-117725937 C>T_QHARRPEDVRTKRQLFPLAKEFIDQ
X:34149563-34149563 G>A	0.0	2556	MELANOMA	-	-	-	-	FAM47A	NM_203408,p.A278V|uc004ddg.3,p.A278V|ENST00000346193,p.A278V	protein_coding	uc004ddg.3	nonsynonymous SNV	exon1	c.C833T	p.A278V	KLDSERKLEDARAPCEGREKTTDEP	KLDSERKLEDARVPCEGREKTTDEP	1.0	10.0	unscreened	-	2556_X:34149563-34149563 G>A_KLDSERKLEDARVPCEGREKTTDEP
5:135692654-135692654 G>A	0.0	2556	MELANOMA	-	-	-	-	TRPC7	uc003lbn.2,p.P141L|uc010jei.2,p.P141L|ENST00000355180,p.P141L|NM_001167577,p.P141L|uc010jef.2,p.P132L|NM_001167576,p.P141L|ENST00000426057,p.P141L|NM_020389,p.P141L|uc010jeh.2,p.P141L|ENST00000513104,p.P141L	retained_intron, protein_coding, nonsense_mediated_decay	uc010jei.2	nonsynonymous SNV	exon2	c.C422T	p.P141L	PAFAQGQRLTLSPLEQELRDDDFYA	PAFAQGQRLTLSLLEQELRDDDFYA	1.0	8.0	unscreened	-	2556_5:135692654-135692654 G>A_PAFAQGQRLTLSLLEQELRDDDFYA
12:40940246-40940246 G>A	0.0	2556	MELANOMA	-	-	-	-	MUC19	uc009zjx.1,p.S68N	retained_intron, protein_coding, processed_transcript	uc009zjx.1	nonsynonymous SNV	exon4	c.G203A	p.S68N	VALSTTVAPGSSSTEATTSTGVHRT	VALSTTVAPGSSNTEATTSTGVHRT	1.0	10.0	unscreened	-	2556_12:40940246-40940246 G>A_VALSTTVAPGSSNTEATTSTGVHRT
X:69176881-69176881 C>T	0.0	2556	MELANOMA	-	-	-	-	EDA	ENST00000374553,p.A134V|uc004dxr.3,p.A134V|NM_001005612,p.A134V|NM_001005609,p.A134V|uc004dxs.3,p.A134V|uc004dxq.1,p.A134V|ENST00000374552,p.A134V|ENST00000524573,p.A134V|NM_001399,p.A134V|uc011mpj.2,p.A134V	retained_intron, protein_coding, processed_transcript	uc011mpj.2	nonsynonymous SNV	exon2	c.C401T	p.A134V	ALHSDSQDGHQMALLNFFFPDEKPY	ALHSDSQDGHQMVLLNFFFPDEKPY	3.0	8.0	-	-	2556_X:69176881-69176881 C>T_ALHSDSQDGHQMVLLNFFFPDEKPY
4:73003804-73003804 G>A	0.0	2556	MELANOMA	-	-	-	-	NPFFR2	uc003hgg.2,p.G228R|NM_053036,p.G126R|ENST00000308744,p.G228R|ENST00000395999,p.G129R|uc003hgh.2,p.G126R|NM_004885,p.G228R|ENST00000358749,p.G126R|uc003hgi.2,p.G129R|NM_001144756,p.G129R	protein_coding, processed_transcript	uc003hgi.2	nonsynonymous SNV	exon4	c.G385A	p.G129R	GNTMCKISGLVQGISVAASVFTLVA	GNTMCKISGLVQRISVAASVFTLVA	1.0	8.0	unscreened	-	2556_4:73003804-73003804 G>A_GNTMCKISGLVQRISVAASVFTLVA
17:37898865-37898865 C>T	0.0	2556	MELANOMA	-	-	-	-	GRB7	uc010cwc.3,p.P68S|NM_005310,p.P68S|ENST00000577695,p.P68S|uc002hsr.3,p.P68S|uc021twu.1,p.P91S|NM_001242442,p.P91S|uc002hss.3,p.P68S|ENST00000394204,p.P68S|NM_001030002,p.P68S|ENST00000309185,p.P68S|ENST00000445327,p.P91S|ENST00000309156,p.P68S|ENST00000394209,p.P68S|uc002hst.3,p.P68S|ENST00000394211,p.P68S|NM_001242443,p.P68S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021twu.1	nonsynonymous SNV	exon3	c.C271T	p.P91S	EEERRATSLPSIPNPFPELCSPPSQ	EEERRATSLPSISNPFPELCSPPSQ	1.0	6.0	unscreened	-	2556_17:37898865-37898865 C>T_EEERRATSLPSISNPFPELCSPPSQ
1:75039077-75039077 C>T	0.0	2556	MELANOMA	-	-	-	-	ERICH3	NM_001002912,p.E773K|ENST00000326665,p.E773K|uc001dgg.3,p.E773K	protein_coding, processed_transcript	uc001dgg.3	nonsynonymous SNV	exon14	c.G2317A	p.E773K	QLVQKTYTLEKKEAMEEDEAPQHRD	QLVQKTYTLEKKKAMEEDEAPQHRD	1.0	10.0	unscreened	-	2556_1:75039077-75039077 C>T_QLVQKTYTLEKKKAMEEDEAPQHRD
19:3573691-3573691 C>T	1.0	2556	MELANOMA	-	-	-	-	HMG20B	ENST00000453933,p.P14S|ENST00000416526,p.P14S|uc002lya.3,p.P14S|uc010xhn.1,p.P14S|uc010dtm.1,p.P14S|ENST00000417382,p.P14S|ENST00000435022,p.P14S|ENST00000262949,p.P14S|ENST00000333651,p.P14S|NM_006339,p.P14S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xhn.1	nonsynonymous SNV	exon2	c.C40T	p.P14S	SHGPKQPGAAAAPAGGKAPGQHGGF	SHGPKQPGAAAASAGGKAPGQHGGF	10.0	1.0	-	-	2556_19:3573691-3573691 C>T_SHGPKQPGAAAASAGGKAPGQHGGF
X:105153798-105153798 C>T	0.0	2556	MELANOMA	-	-	-	-	NRK	NM_198465,p.A722V|uc010npc.1,p.A390V|uc004emd.3,p.A722V|ENST00000243300,p.A722V|ENST00000428173,p.A723V	protein_coding	uc010npc.1	nonsynonymous SNV	exon13	c.C1169T	p.A390V	WRPEKLELSDLEARRQRRQRRWEDI	WRPEKLELSDLEVRRQRRQRRWEDI	1.0	9.0	unscreened	-	2556_X:105153798-105153798 C>T_WRPEKLELSDLEVRRQRRQRRWEDI
7:100678652-100678652 C>T	0.0	2556	MELANOMA	-	-	ID=COSM3831441;OCCURENCE=1(breast)	-	MUC17	NM_001040105,p.P1319S|ENST00000379439,p.P1319S|uc003uxp.1,p.P1319S|ENST00000306151,p.P1319S	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.C3955T	p.P1319S	GPVVTSNEVSSSPTPAEGTSMPTST	GPVVTSNEVSSSSTPAEGTSMPTST	1.0	1.0	unscreened	-	2556_7:100678652-100678652 C>T_GPVVTSNEVSSSSTPAEGTSMPTST
12:18852748-18852748 C>T	0.0	2556	MELANOMA	-	-	ID=COSM3811618,COSM1220994,COSM3811617;OCCURENCE=1(large_intestine),1(breast)	-	PLCZ1	uc001rdv.5,p.R281Q|uc001rdu.2,p.R167Q|ENST00000540421,p.R120Q|ENST00000266505,p.R385Q|NM_033123,p.R385Q|ENST00000541695,p.R248Q|uc001rdw.5,p.R126Q|uc021qvx.2,p.R385Q|ENST00000435379,p.R190Q|ENST00000539875,p.R192Q|ENST00000538330,p.R167Q|ENST00000447925,p.R383Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qvx.2	nonsynonymous SNV	exon10	c.G1154A	p.R385Q	FNENNSIGETQARKLSKLRVHEFIF	FNENNSIGETQAQKLSKLRVHEFIF	1.0	10.0	unscreened	-	2556_12:18852748-18852748 C>T_FNENNSIGETQAQKLSKLRVHEFIF
5:140215730-140215730 G>A	0.0	2556	MELANOMA	-	-	-	-	PCDHA7	uc003lhq.2,p.G588S|ENST00000525929,p.G588S|ENST00000378125,p.G588S|NM_018910,p.G588S|NM_031852,p.G588S|uc011dac.2,p.G588S	protein_coding	uc011dac.2	nonsynonymous SNV	exon1	c.G1762A	p.G588S	AVRELVPRSVGAGHVVAKVRAVDAD	AVRELVPRSVGASHVVAKVRAVDAD	3.0	8.0	unscreened	-	2556_5:140215730-140215730 G>A_AVRELVPRSVGASHVVAKVRAVDAD
20:40709551-40709551 C>T	0.0	2556	MELANOMA	-	-	ID=COSM142703;OCCURENCE=1(skin)	1	PTPRT	ENST00000373201,p.E1422K|ENST00000356100,p.E1441K|uc002xkg.3,p.E1432K|ENST00000373190,p.E1431K|ENST00000373184,p.E1442K|ENST00000373193,p.E1435K|NM_007050,p.E1432K|ENST00000373187,p.E1432K|uc010ggi.3,p.E635K|uc010ggj.3,p.E1451K|ENST00000373198,p.E1454K|NM_133170,p.E1451K	protein_coding, processed_transcript	uc010ggj.3	nonsynonymous SNV	exon32	c.G4351A	p.E1451K	MVETLEQYKFVYEVALEYLSSF	MVETLEQYKFVYKVALEYLSSF	1.0	7.0	unscreened	-	2556_20:40709551-40709551 C>T_MVETLEQYKFVYKVALEYLSSF
9:27192561-27192561 C>T	0.0	2556	MELANOMA	-	-	ID=COSM136706,COSM136705;OCCURENCE=1(skin)	-	TEK	NM_000459,p.R522C|ENST00000406359,p.R479C|ENST00000519080,p.R332C|NM_001290078,p.R375C|uc003zqi.4,p.R522C|ENST00000519097,p.R375C|ENST00000380036,p.R522C|uc003zqj.1,p.R456C|uc011lnp.2,p.R375C|uc011lno.2,p.R479C|NM_001290077,p.R479C	protein_coding, nonsense_mediated_decay	uc011lnp.2	nonsynonymous SNV	exon9	c.C1123T	p.R375C	RTEYELCVQLVRRGEGGEGHPGPVR	RTEYELCVQLVRCGEGGEGHPGPVR	2.0	10.0	-	-	2556_9:27192561-27192561 C>T_RTEYELCVQLVRCGEGGEGHPGPVR
6:143074519-143074519 C>T	1.0	2556	MELANOMA	-	-	-	-	HIVEP2	ENST00000367603,p.E2356K|ENST00000367604,p.E2356K|ENST00000012134,p.E2356K|NM_006734,p.E2356K|uc003qjd.3,p.E2356K	protein_coding, processed_transcript	uc003qjd.3	nonsynonymous SNV	exon10	c.G7066A	p.E2356K	ALLGPDQPARVQEPHQNPLGSAHVS	ALLGPDQPARVQKPHQNPLGSAHVS	6.0	8.0	-	-	2556_6:143074519-143074519 C>T_ALLGPDQPARVQKPHQNPLGSAHVS
3:120673860-120673860 G>A	0.0	2556	MELANOMA	-	-	-	-	STXBP5L	ENST00000471454,p.G88E|ENST00000471262,p.G88E|ENST00000273666,p.G88E|ENST00000497029,p.G88E|ENST00000495504,p.G88E|uc011bji.2,p.G88E|ENST00000492541,p.G88E|uc003eec.4,p.G88E|ENST00000472879,p.G88E|NM_014980,p.G88E	protein_coding, nonsense_mediated_decay	uc011bji.2	nonsynonymous SNV	exon3	c.G263A	p.G88E	LAFDPVQKILAIGTRTGAIRILGRP	LAFDPVQKILAIETRTGAIRILGRP	4.0	7.0	unscreened	-	2556_3:120673860-120673860 G>A_LAFDPVQKILAIETRTGAIRILGRP
11:65404327-65404327 C>T	1.0	2556	MELANOMA	-	-	-	-	PCNXL3	NM_032223,p.P1995S|uc001oez.2,p.P882S|uc001oey.2,p.P1995S|ENST00000355703,p.P1995S	retained_intron, protein_coding, processed_transcript	uc001oez.2	nonsynonymous SNV	exon15	c.C2644T	p.P882S	TEASPPRASQDIPCLDSSAPESGTP	TEASPPRASQDISCLDSSAPESGTP	7.0	4.0	-	-	2556_11:65404327-65404327 C>T_TEASPPRASQDISCLDSSAPESGTP
11:55579870-55579870 C>T	0.0	2556	MELANOMA	-	-	ID=COSM106604;OCCURENCE=2(skin)	-	OR5L1	uc001nhw.1,p.H310Y|NM_001004738,p.H310Y|ENST00000333973,p.H310Y	protein_coding	uc001nhw.1	nonsynonymous SNV	exon1	c.C928T	p.H310Y	KEALRKVMGSKIHS	KEALRKVMGSKIYS	1.0	10.0	unscreened	-	2556_11:55579870-55579870 C>T_KEALRKVMGSKIYS
11:5364484-5364484 C>T	0.0	2556	MELANOMA	-	-	-	-	OR51B5	ENST00000300773,p.G91R|uc001map.1,p.G91R|NM_001005567,p.G91R|uc001maq.2,p.G91R	protein_coding	uc001maq.2	nonsynonymous SNV	exon5	c.G271A	p.G91R	VLGVLWLDHREIGSAACFSQAYFIH	VLGVLWLDHREIRSAACFSQAYFIH	2.0	5.0	unscreened	-	2556_11:5364484-5364484 C>T_VLGVLWLDHREIRSAACFSQAYFIH
11:74998405-74998405 C>T	1.0	2556	MELANOMA	-	-	-	-	ARRB1	ENST00000533609,p.G37R	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000533609	nonsynonymous SNV	exon3	c.G109A	p.G37R	EGQSKWKAHRLPGKAGLCGPHRPRG	EGQSKWKAHRLPRKAGLCGPHRPRG	8.0	7.0	-	-	2556_11:74998405-74998405 C>T_EGQSKWKAHRLPRKAGLCGPHRPRG
7:63727047-63727047 C>T	0.0	2556	MELANOMA	-	-	-	-	ZNF679	NM_153363,p.H346Y|uc003tsx.3,p.H346Y|ENST00000421025,p.H346Y|ENST00000255746,p.H346Y	protein_coding	uc003tsx.3	nonsynonymous SNV	exon5	c.C1036T	p.H346Y	NCSSTLKKHKIIHTGEKPYKCKECG	NCSSTLKKHKIIYTGEKPYKCKECG	2.0	1.0	unscreened	-	2556_7:63727047-63727047 C>T_NCSSTLKKHKIIYTGEKPYKCKECG
19:9058328-9058328 C>T	0.0	2556	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.M9706I|NM_024690,p.M9706I|ENST00000397910,p.M9706I	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.G29118A	p.M9706I	SQGLSHSEMTNLMSRGPESLSWTSP	SQGLSHSEMTNLISRGPESLSWTSP	1.0	9.0	unscreened	-	2556_19:9058328-9058328 C>T_SQGLSHSEMTNLISRGPESLSWTSP
12:126138469-126138469 C>T	0.0	2556	MELANOMA	-	-	ID=COSM108971;OCCURENCE=1(skin)	-	TMEM132B	uc001uhf.1,p.S329F|NM_052907,p.S817F|ENST00000299308,p.S817F|ENST00000535886,p.S329F|uc001uhe.1,p.S817F|NM_001286219,p.S329F	retained_intron, protein_coding, processed_transcript	uc001uhf.1	nonsynonymous SNV	exon5	c.C986T	p.S329F	GINREYKDHLSNSIEREGNQERAVQ	GINREYKDHLSNFIEREGNQERAVQ	4.0	8.0	unscreened	-	2556_12:126138469-126138469 C>T_GINREYKDHLSNFIEREGNQERAVQ
9:77390974-77390974 C>T	0.0	2556	MELANOMA	-	-	-	-	TRPM6	ENST00000451710,p.M1076I|uc004ajl.1,p.M1076I|ENST00000449912,p.M1071I|NM_001177311,p.M1071I|ENST00000376864,p.M1076I|ENST00000361255,p.M1071I|uc004ajk.1,p.M1071I|NM_017662,p.M1076I|ENST00000360774,p.M1076I|uc022bib.1,p.M1071I|NM_001177310,p.M1071I	protein_coding, processed_transcript	uc022bib.1	nonsynonymous SNV	exon24	c.G3213A	p.M1071I	LLIAFFNNVYLDMESISNNLWKYNR	LLIAFFNNVYLDIESISNNLWKYNR	1.0	5.0	-	-	2556_9:77390974-77390974 C>T_LLIAFFNNVYLDIESISNNLWKYNR
1:19180874-19180874 C>G	0.0	2556	MELANOMA	-	-	-	-	TAS1R2	ENST00000375371,p.D364H|uc001bba.1,p.D364H|NM_152232,p.D364H	protein_coding	uc001bba.1	nonsynonymous SNV	exon3	c.G1090C	p.D364H	RTSQSYTCNQECDNCLNATLSFNTI	RTSQSYTCNQECHNCLNATLSFNTI	1.0	9.0	unscreened	-	2556_1:19180874-19180874 C>G_RTSQSYTCNQECHNCLNATLSFNTI
3:39230053-39230053 G>A	0.0	2556	MELANOMA	-	-	-	-	XIRP1	uc003cjk.2,p.S295F|ENST00000396251,p.S295F|uc003cji.3,p.S295F|NM_001198621,p.S295F|ENST00000340369,p.S295F|NM_194293,p.S295F|uc021wvz.1,p.S295F	protein_coding	uc021wvz.1	nonsynonymous SNV	exon1	c.C884T	p.S295F	QDPSQVRVIRGISLEEGARPDVSAT	QDPSQVRVIRGIFLEEGARPDVSAT	1.0	6.0	unscreened	-	2556_3:39230053-39230053 G>A_QDPSQVRVIRGIFLEEGARPDVSAT
1:172425623-172425623 G>A	0.0	2556	MELANOMA	-	-	ID=COSM1689196;OCCURENCE=1(skin)	-	C1orf105	ENST00000367725,p.M79I|NM_139240,p.M89I|ENST00000488100,p.M60I|uc001gik.3,p.M89I|NM_001300760,p.M79I|ENST00000367727,p.M89I	protein_coding, processed_transcript	uc001gik.3	nonsynonymous SNV	exon4	c.G267A	p.M89I	LRNQQLCSTCQEMKMVQPRTMKIPD	LRNQQLCSTCQEIKMVQPRTMKIPD	1.0	4.0	unscreened	-	2556_1:172425623-172425623 G>A_LRNQQLCSTCQEIKMVQPRTMKIPD
11:1092920-1092920 C>A	0.0	2556	MELANOMA	-	-	-	-	MUC2	ENST00000441003,p.T1580N	protein_coding	ENST00000441003	nonsynonymous SNV	exon30	c.C4739A	p.T1580N	TVTPTPTPTGTQTPTSTPITTTTTV	TVTPTPTPTGTQNPTSTPITTTTTV	1.0	1.0	unscreened	-	2556_11:1092920-1092920 C>A_TVTPTPTPTGTQNPTSTPITTTTTV
6:41655673-41655673 C>T	1.0	2556	MELANOMA	-	-	-	1	TFEB	NM_001271945,p.D215N|ENST00000419396,p.D215N|ENST00000394283,p.D215N|ENST00000420312,p.D130N|uc010jxo.1,p.D215N|NM_007162,p.D215N|uc003oqs.1,p.D215N|ENST00000230323,p.D215N|uc003oqt.2,p.D215N|uc003oqu.2,p.D229N|NM_001271944,p.D215N|NM_001167827,p.D229N|uc021yzl.1,p.D282N|ENST00000358871,p.D229N|uc031sop.1,p.D215N|ENST00000416140,p.D215N|ENST00000343317,p.D301N|ENST00000403298,p.D215N|uc003oqr.2,p.D130N|ENST00000406563,p.D73N|uc003oqv.1,p.D215N|ENST00000373033,p.D215N|NM_001271943,p.D130N	retained_intron, protein_coding	uc031sop.1	nonsynonymous SNV	exon5	c.G643A	p.D215N	SLVGVTSSSCPADLTQKRELTDAES	SLVGVTSSSCPANLTQKRELTDAES	5.0	5.0	-	-	2556_6:41655673-41655673 C>T_SLVGVTSSSCPANLTQKRELTDAES
8:8234159-8234159 G>A	1.0	2556	MELANOMA	-	-	-	-	SGK223	ENST00000330777,p.S587F|uc003wsh.4,p.S587F|ENST00000520004,p.S587F	protein_coding	uc003wsh.4	nonsynonymous SNV	exon2	c.C1760T	p.S587F	SSGGSSIGPQPPSQGPADPAPSCRT	SSGGSSIGPQPPFQGPADPAPSCRT	5.0	5.0	-	-	2556_8:8234159-8234159 G>A_SSGGSSIGPQPPFQGPADPAPSCRT
10:124351021-124351021 C>T	0.0	2556	MELANOMA	-	-	-	-	DMBT1	ENST00000344338,p.P712S|ENST00000368909,p.P722S|NM_017579,p.P712S|ENST00000368955,p.P712S|uc009xzz.1,p.P722S|ENST00000338354,p.P722S|uc001lgl.1,p.P712S|uc001lgk.1,p.P722S|uc021qag.1,p.P712S|NM_007329,p.P722S|uc021qaf.1,p.P722S	protein_coding	uc021qag.1	nonsynonymous SNV	exon18	c.C2134T	p.P712S	PRPDTLSTITLPPSTVGSESSLTLR	PRPDTLSTITLPSSTVGSESSLTLR	1.0	6.0	unscreened	-	2556_10:124351021-124351021 C>T_PRPDTLSTITLPSSTVGSESSLTLR
11:1092920-1092920 C>A	0.0	2556	MELANOMA	-	-	-	-	MUC2	ENST00000359061,p.T1581N	protein_coding	ENST00000359061	nonsynonymous SNV	exon30	c.C4742A	p.T1581N	TVTPTPTPTGTQTPTSTPITTTTTT	TVTPTPTPTGTQNPTSTPITTTTTT	1.0	1.0	unscreened	-	2556_11:1092920-1092920 C>A_TVTPTPTPTGTQNPTSTPITTTTTT
19:56370203-56370203 G>A	0.0	2556	MELANOMA	-	-	ID=COSM107956;OCCURENCE=1(skin)	-	NLRP4	uc002qmd.4,p.E482K|ENST00000346986,p.E482K|uc010etf.3,p.E313K|ENST00000301295,p.E482K|NM_134444,p.E482K|ENST00000587891,p.E407K|uc002qmf.3,p.E407K	protein_coding	uc010etf.3	nonsynonymous SNV	exon1	c.G937A	p.E313K	LDHPHPAVRCVQELLVANFEKARRA	LDHPHPAVRCVQKLLVANFEKARRA	1.0	3.0	unscreened	-	2556_19:56370203-56370203 G>A_LDHPHPAVRCVQKLLVANFEKARRA
19:56701764-56701764 G>A	0.0	2556	MELANOMA	-	-	-	-	ZSCAN5B	ENST00000586855,p.S307F|NM_001080456,p.S307F|ENST00000358992,p.S307F|uc010ygh.2,p.S307F	protein_coding	uc010ygh.2	nonsynonymous SNV	exon4	c.C920T	p.S307F	SPKRSKPDASSISQEEPQGEATPVG	SPKRSKPDASSIFQEEPQGEATPVG	1.0	4.0	unscreened	-	2556_19:56701764-56701764 G>A_SPKRSKPDASSIFQEEPQGEATPVG
20:17639804-17639804 T>C	1.0	2556	MELANOMA	-	-	-	-	RRBP1	ENST00000246043,p.K450R|uc021waw.1,p.K450R|ENST00000377813,p.K450R	protein_coding, processed_transcript	uc021waw.1	nonsynonymous SNV	exon1	c.A1349G	p.K450R	QGKKAEGAQNQGKKAEGAQNQGKKA	QGKKAEGAQNQGRKAEGAQNQGKKA	10.0	1.0	unscreened	-	2556_20:17639804-17639804 T>C_QGKKAEGAQNQGRKAEGAQNQGKKA
3:195017934-195017934 G>A	1.0	2556	MELANOMA	-	-	-	-	ACAP2	uc003fun.4,p.P491L|ENST00000326793,p.P491L|NM_012287,p.P491L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003fun.4	nonsynonymous SNV	exon16	c.C1472T	p.P491L	YEANVEKMGIKKPQPGQRQEKEAYI	YEANVEKMGIKKLQPGQRQEKEAYI	9.0	9.0	-	-	2556_3:195017934-195017934 G>A_YEANVEKMGIKKLQPGQRQEKEAYI
12:130926651-130926651 C>T	0.0	2556	MELANOMA	-	-	-	-	RIMBP2	NM_015347,p.V399M|uc001uil.2,p.V399M|uc001uim.3,p.V307M|ENST00000261655,p.V399M|ENST00000536002,p.V307M|ENST00000535703,p.V307M	retained_intron, protein_coding, nonsense_mediated_decay	uc001uim.3	nonsynonymous SNV	exon12	c.G919A	p.V307M	GKDVVVAPSHLRVDNITQISAQLSW	GKDVVVAPSHLRMDNITQISAQLSW	1.0	3.0	unscreened	-	2556_12:130926651-130926651 C>T_GKDVVVAPSHLRMDNITQISAQLSW
19:46215462-46215462 G>T	1.0	2556	MELANOMA	-	-	-	-	FBXO46	ENST00000317683,p.A431E|uc002pcz.3,p.A431E|uc002pcy.3,p.A431E|NM_001080469,p.A431E|uc021uvz.1,p.A431E	protein_coding	uc021uvz.1	nonsynonymous SNV	exon1	c.C1292A	p.A431E	PPEPPPADSPATAPGPDDAEGTADT	PPEPPPADSPATEPGPDDAEGTADT	6.0	9.0	-	-	2556_19:46215462-46215462 G>T_PPEPPPADSPATEPGPDDAEGTADT
9:77390974-77390974 C>T	0.0	2556	MELANOMA	-	-	-	-	TRPM6	uc004ajj.1,p.M32I	protein_coding, processed_transcript	uc004ajj.1	nonsynonymous SNV	exon1	c.G96A	p.M32I	SLTSSYSNVYLDMESISNNLWKYNR	SLTSSYSNVYLDIESISNNLWKYNR	1.0	5.0	-	-	2556_9:77390974-77390974 C>T_SLTSSYSNVYLDIESISNNLWKYNR
13:28599075-28599075 G>A	0.0	2556	MELANOMA	-	-	-	1	FLT3	ENST00000241453,p.P738L|ENST00000380982,p.P738L|uc010tdn.2,p.P738L|uc001urw.3,p.P738L|NM_004119,p.P738L|ENST00000537084,p.P738L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tdn.2	nonsynonymous SNV	exon18	c.C2213T	p.P738L	YPTFQSHPNSSMPGSREVQIHPDSD	YPTFQSHPNSSMLGSREVQIHPDSD	1.0	6.0	unscreened	-	2556_13:28599075-28599075 G>A_YPTFQSHPNSSMLGSREVQIHPDSD
4:70823510-70823510 C>T	0.0	2556	MELANOMA	-	-	-	-	CSN2	uc003hes.4,p.D53N|NM_001891,p.D53N|ENST00000353151,p.D53N|uc003het.4,p.D52N	protein_coding	uc003het.4	nonsynonymous SNV	exon5	c.G154A	p.D52N	HEDQQQGEDEHQDKIYPSFQPQPLI	HEDQQQGEDEHQNKIYPSFQPQPLI	1.0	9.0	unscreened	-	2556_4:70823510-70823510 C>T_HEDQQQGEDEHQNKIYPSFQPQPLI
19:15853131-15853131 G>A	0.0	2556	MELANOMA	-	-	-	-	OR10H3	uc010xoq.2,p.R310K|NM_013938,p.R310K|ENST00000305892,p.R310K	protein_coding	uc010xoq.2	nonsynonymous SNV	exon1	c.G929A	p.R310K	ELKNAINKNFCRRFCPLSS	ELKNAINKNFCRKFCPLSS	1.0	9.0	unscreened	-	2556_19:15853131-15853131 G>A_ELKNAINKNFCRKFCPLSS
X:37028677-37028677 G>A	0.0	2556	MELANOMA	-	-	-	2	FAM47C	NM_001013736,p.E732K|ENST00000358047,p.E732K|uc004ddl.2,p.E732K	protein_coding	uc004ddl.2	nonsynonymous SNV	exon1	c.G2194A	p.E732K	ESRVSHLCPEPPETGVSHLRPEPPK	ESRVSHLCPEPPKTGVSHLRPEPPK	1.0	3.0	unscreened	-	2556_X:37028677-37028677 G>A_ESRVSHLCPEPPKTGVSHLRPEPPK
2:168103850-168103850 C>T	0.0	2556	MELANOMA	-	-	ID=COSM1528877;OCCURENCE=1(lung)	-	XIRP2	ENST00000409195,p.P1983L|ENST00000409273,p.P1761L|ENST00000295237,p.P1983L|NM_152381,p.P1983L|uc002udx.3,p.P1983L|NM_001199144,p.P1761L|uc010fpq.3,p.P1761L|uc002udy.3,p.P1808L	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.C5282T	p.P1761L	RNKNSLLQPKPGPFEPAAKWQGGAD	RNKNSLLQPKPGLFEPAAKWQGGAD	1.0	8.0	unscreened	-	2556_2:168103850-168103850 C>T_RNKNSLLQPKPGLFEPAAKWQGGAD
1:177250092-177250092 G>A	0.0	2556	MELANOMA	-	-	-	-	BRINP2	uc001glf.3,p.G594R|ENST00000361539,p.G594R|NM_021165,p.G594R|uc001glg.3,p.G489R	protein_coding, processed_transcript	uc001glg.3	nonsynonymous SNV	exon5	c.G1465A	p.G489R	LEPVMAIYVNPFGGSHSESWFMPVN	LEPVMAIYVNPFRGSHSESWFMPVN	3.0	9.0	unscreened	-	2556_1:177250092-177250092 G>A_LEPVMAIYVNPFRGSHSESWFMPVN
1:179414189-179414189 G>A	0.0	2556	MELANOMA	-	-	-	-	AXDND1	ENST00000367618,p.E550K|uc001gmo.3,p.E550K|NM_144696,p.E550K|uc001gmn.2,p.E338K|ENST00000434088,p.E484K|uc021pfj.1,p.E508K|ENST00000457238,p.E550K	protein_coding, processed_transcript, nonsense_mediated_decay	uc021pfj.1	nonsynonymous SNV	exon14	c.G1522A	p.E508K	KYDTLKIIKHLQENWADIGLGIFNR	KYDTLKIIKHLQKNWADIGLGIFNR	3.0	9.0	unscreened	-	2556_1:179414189-179414189 G>A_KYDTLKIIKHLQKNWADIGLGIFNR
4:52926959-52926959 G>A	0.0	2556	MELANOMA	-	-	-	-	SPATA18	ENST00000503055,p.M33I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000503055	nonsynonymous SNV	exon2	c.G99A	p.M33I	LDFWLKEYNEDVMMVWKQSSHAFCL	LDFWLKEYNEDVIMVWKQSSHAFCL	3.0	2.0	unscreened	-	2556_4:52926959-52926959 G>A_LDFWLKEYNEDVIMVWKQSSHAFCL
1:24977916-24977916 C>T	1.0	2556	MELANOMA	-	-	-	-	SRRM1	ENST00000374389,p.P180S|ENST00000596378,p.P141S|uc009vrh.1,p.P141S|uc010oel.2,p.P180S|ENST00000323848,p.P180S|ENST00000447431,p.P180S|uc001bjm.3,p.P180S|uc009vri.1,p.P97S|NM_005839,p.P180S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010oel.2	nonsynonymous SNV	exon6	c.C538T	p.P180S	RSRSPRRRKSRSPSPRRRSSPVRRE	RSRSPRRRKSRSSSPRRRSSPVRRE	10.0	9.0	-	-	2556_1:24977916-24977916 C>T_RSRSPRRRKSRSSSPRRRSSPVRRE
X:38145614-38145614 C>T	0.0	2556	MELANOMA	-	-	-	-	RPGR	uc004ded.1,p.E880K|ENST00000378505,p.E880K|NM_001034853,p.E880K	retained_intron, protein_coding, nonsense_mediated_decay	uc004ded.1	nonsynonymous SNV	exon15	c.G2638A	p.E880K	EEEGEEGEGEGEEEEGEGEGEEEGE	EEEGEEGEGEGEKEEGEGEGEEEGE	7.0	1.0	unscreened	-	2556_X:38145614-38145614 C>T_EEEGEEGEGEGEKEEGEGEGEEEGE
8:3263651-3263651 G>T	0.0	2556	MELANOMA	-	-	-	-	CSMD1	uc011kwj.2,p.H115N|ENST00000400186,p.H723N|ENST00000542608,p.H722N|NM_033225,p.H722N|ENST00000602723,p.H723N|ENST00000539096,p.H722N|ENST00000537824,p.H722N|ENST00000520002,p.H723N|ENST00000602557,p.H723N|uc022aqr.1,p.H722N	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon15	c.C2164A	p.H722N	GDRFLLGSSVSFHCDDGFVKTQGSE	GDRFLLGSSVSFNCDDGFVKTQGSE	3.0	8.0	unscreened	-	2556_8:3263651-3263651 G>T_GDRFLLGSSVSFNCDDGFVKTQGSE
18:52937188-52937188 G>A	0.0	2556	MELANOMA	-	-	-	-	TCF4	NM_001243233,p.P136S|uc021uki.1,p.P195S|uc002lfy.2,p.P224S|ENST00000570177,p.P136S|ENST00000566514,p.P242S|ENST00000540999,p.P242S|ENST00000566286,p.P264S|ENST00000566279,p.P206S|uc002lgc.4,p.P187S|NM_001243227,p.P242S|NM_001243230,p.P264S|ENST00000537578,p.P242S|uc010xdy.1,p.P242S|uc002lga.3,p.P368S|ENST00000564403,p.P272S|uc002lfw.4,p.P106S|ENST00000564999,p.P266S|NM_003199,p.P266S|uc002lfx.2,p.P195S|ENST00000570287,p.P106S|ENST00000567880,p.P206S|uc010xdu.1,p.P136S|NM_001083962,p.P266S|uc010dpi.3,p.P272S|ENST00000457482,p.P106S|ENST00000354452,p.P266S|uc021ukh.1,p.P106S|NM_001243234,p.P106S|uc010xdx.1,p.P242S|uc010xdw.1,p.P136S|NM_001243228,p.P272S|ENST00000568673,p.P242S|ENST00000569012,p.P136S|uc021ukj.1,p.P206S|ENST00000543082,p.P224S|ENST00000398339,p.P368S|NM_001243226,p.P368S|ENST00000537856,p.P136S|uc021ukk.1,p.P206S|ENST00000544241,p.P195S|NM_001243231,p.P224S|uc021ukl.1,p.P264S|ENST00000564228,p.P195S|NM_001243232,p.P195S|uc021ukg.1,p.P106S|ENST00000561992,p.P136S|ENST00000565018,p.P266S|NM_001243235,p.P106S|ENST00000561831,p.P106S|uc002lfz.2,p.P266S|uc010xdv.1,p.P136S|uc010dph.1,p.P266S|ENST00000356073,p.P266S|ENST00000568740,p.P241S|NM_001243236,p.P106S	retained_intron, protein_coding, processed_transcript	uc021ukl.1	nonsynonymous SNV	exon10	c.C790T	p.P264S	YCSLHPHERLSYPSHSSADINSSLP	YCSLHPHERLSYSSHSSADINSSLP	3.0	9.0	unscreened	-	2556_18:52937188-52937188 G>A_YCSLHPHERLSYSSHSSADINSSLP
2:175431828-175431828 G>A	1.0	2556	MELANOMA	-	-	-	-	WIPF1	uc002uiz.3,p.P476S|uc002uja.3,p.P476S|ENST00000392547,p.P476S|ENST00000392546,p.P476S|ENST00000272746,p.P476S|NM_001077269,p.P476S|ENST00000359761,p.P476S|NM_003387,p.P476S|uc010fqt.1,p.P476S	retained_intron, protein_coding, processed_transcript	uc010fqt.1	nonsynonymous SNV	exon7	c.C1426T	p.P476S	PPEPYVQTTKSYPSKLARNESRSGS	PPEPYVQTTKSYSSKLARNESRSGS	10.0	2.0	-	-	2556_2:175431828-175431828 G>A_PPEPYVQTTKSYSSKLARNESRSGS
8:124748023-124748023 C>T	0.0	2556	MELANOMA	-	-	-	-	ANXA13	uc003yqt.3,p.R37Q|NM_001003954,p.R37Q|ENST00000262219,p.R37Q	retained_intron, protein_coding, processed_transcript	uc003yqt.3	nonsynonymous SNV	exon2	c.G110A	p.R37Q	PSTVVQPLSHPSRNGEPEAPQPAKA	PSTVVQPLSHPSQNGEPEAPQPAKA	3.0	1.0	unscreened	-	2556_8:124748023-124748023 C>T_PSTVVQPLSHPSQNGEPEAPQPAKA
10:68280468-68280468 C>T	0.0	2556	MELANOMA	-	-	-	-	CTNNA3	uc001jmw.2,p.E480K|NM_013266,p.E480K|ENST00000373744,p.E480K|NM_001127384,p.E480K|uc001jmx.4,p.E480K|ENST00000433211,p.E480K|uc009xpn.1,p.E480K	protein_coding, processed_transcript, nonsense_mediated_decay	uc009xpn.1	nonsynonymous SNV	exon11	c.G1438A	p.E480K	ARPKSQAVKNTMEMYKRTWENHIHV	ARPKSQAVKNTMKMYKRTWENHIHV	3.0	7.0	unscreened	-	2556_10:68280468-68280468 C>T_ARPKSQAVKNTMKMYKRTWENHIHV
1:177030375-177030375 G>A	0.0	2556	MELANOMA	-	-	-	-	ASTN1	NM_207108,p.P104S|uc009wwx.1,p.P104S|uc001gld.1,p.P104S|uc001glc.3,p.P104S|ENST00000367657,p.P104S|NM_001286164,p.P104S|uc001glb.1,p.P104S|ENST00000361833,p.P104S|NM_004319,p.P104S|ENST00000367654,p.P104S|ENST00000424564,p.P104S	protein_coding, processed_transcript	uc009wwx.1	nonsynonymous SNV	exon2	c.C310T	p.P104S	FVLEISGNTEDIPLVRWRQQWLENG	FVLEISGNTEDISLVRWRQQWLENG	1.0	5.0	unscreened	-	2556_1:177030375-177030375 G>A_FVLEISGNTEDISLVRWRQQWLENG
4:42467062-42467062 C>T	0.0	2556	MELANOMA	-	-	-	-	ATP8A1	NM_006095,p.E786K|uc003gwr.2,p.E786K|uc003gws.2,p.E771K|NM_001105529,p.E771K|ENST00000381668,p.E786K|ENST00000264449,p.E771K	retained_intron, protein_coding, nonsense_mediated_decay	uc003gws.2	nonsynonymous SNV	exon25	c.G2311A	p.E771K	CRVSPLQKSEVVEMVKKQVKVVTLA	CRVSPLQKSEVVKMVKKQVKVVTLA	3.0	9.0	unscreened	-	2556_4:42467062-42467062 C>T_CRVSPLQKSEVVKMVKKQVKVVTLA
4:42467062-42467062 C>T	0.0	2556	MELANOMA	-	-	-	-	ATP8A1	uc003gwq.2,p.E12K	retained_intron, protein_coding, nonsense_mediated_decay	uc003gwq.2	nonsynonymous SNV	exon3	c.G34A	p.E12K	MVSPLQKSEVVEMVKKQVKVVTLA	MVSPLQKSEVVKMVKKQVKVVTLA	3.0	9.0	unscreened	-	2556_4:42467062-42467062 C>T_MVSPLQKSEVVKMVKKQVKVVTLA
2:179605623-179605623 C>T	0.0	2556	MELANOMA	-	-	-	-	TTN	uc021vsz.2,p.E3942K|ENST00000589042,p.E4113K|ENST00000359218,p.E3875K|ENST00000342175,p.E3942K|uc031rqc.1,p.E4113K|NM_003319,p.E3750K|NM_001267550,p.E4113K|ENST00000591111,p.E3796K|NM_133437,p.E3942K|uc021vtb.2,p.E3750K|uc021vta.2,p.E3875K|ENST00000460472,p.E3750K|uc031rqd.1,p.E3796K|NM_001256850,p.E3796K|NM_133432,p.E3875K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon46	c.G11386A	p.E3796K	NELSSQLPLGAQELQSILEQDKLTP	NELSSQLPLGAQKLQSILEQDKLTP	2.0	6.0	unscreened	-	2556_2:179605623-179605623 C>T_NELSSQLPLGAQKLQSILEQDKLTP
12:53165931-53165931 C>T	0.0	2556	MELANOMA	-	-	-	-	KRT76	NM_015848,p.E362K|uc001sax.3,p.E362K|ENST00000332411,p.E362K	protein_coding	uc001sax.3	nonsynonymous SNV	exon5	c.G1084A	p.E362K	LGSIIAEVRAQYEEIAQRSKSEAEA	LGSIIAEVRAQYKEIAQRSKSEAEA	1.0	9.0	unscreened	-	2556_12:53165931-53165931 C>T_LGSIIAEVRAQYKEIAQRSKSEAEA
4:69817294-69817294 G>A	0.0	2556	MELANOMA	-	-	-	-	UGT2A3	NM_024743,p.S62L|ENST00000251566,p.S62L|uc003hef.2,p.S62L	protein_coding, nonsense_mediated_decay	uc003hef.2	nonsynonymous SNV	exon1	c.C185T	p.S62L	GHEVTVLTHSKPSLIDYRKPSALKF	GHEVTVLTHSKPLLIDYRKPSALKF	1.0	4.0	unscreened	-	2556_4:69817294-69817294 G>A_GHEVTVLTHSKPLLIDYRKPSALKF
16:2140509-2140509 A>C	1.0	2556	MELANOMA	-	-	-	-	PKD1	uc002cot.1,p.L4073R|ENST00000423118,p.L4073R|ENST00000262304,p.L4074R|uc002cos.1,p.L4074R|NM_000296,p.L4073R|NM_001009944,p.L4074R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002cot.1	nonsynonymous SNV	exon45	c.T12218G	p.L4073R	LLVLCPGTGLSTLCPAESWHLSPLL	LLVLCPGTGLSTRCPAESWHLSPLL	8.0	4.0	-	-	2556_16:2140509-2140509 A>C_LLVLCPGTGLSTRCPAESWHLSPLL
X:89177409-89177409 C>T	0.0	2556	MELANOMA	-	-	-	-	TGIF2LX	uc022bzr.1,p.L109F|NM_138960,p.L109F|uc004efe.3,p.L109F|ENST00000561129,p.L109F|ENST00000283891,p.L109F	protein_coding	uc022bzr.1	nonsynonymous SNV	exon1	c.C325T	p.L109F	ISNWFINARRRILPDMLQQRRNDPI	ISNWFINARRRIFPDMLQQRRNDPI	3.0	8.0	unscreened	-	2556_X:89177409-89177409 C>T_ISNWFINARRRIFPDMLQQRRNDPI
8:62289219-62289219 G>A	0.0	2556	MELANOMA	0.0005	-	ID=COSM107662;OCCURENCE=1(skin)	-	CLVS1	ENST00000325897,p.E171K|ENST00000519846,p.E171K|uc003xuh.3,p.E171K|NM_173519,p.E171K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xuh.3	nonsynonymous SNV	exon3	c.G511A	p.E171K	LRAILLSLEVLIEDPELQINGFILI	LRAILLSLEVLIKDPELQINGFILI	2.0	2.0	unscreened	-	2556_8:62289219-62289219 G>A_LRAILLSLEVLIKDPELQINGFILI
2:152321582-152321582 G>A	1.0	2556	MELANOMA	-	-	-	-	RIF1	NM_018151,p.E1850K|ENST00000428287,p.E1850K|uc002txo.3,p.E1850K|ENST00000430328,p.E1850K|ENST00000453091,p.E1850K|NM_001177665,p.E1850K|uc002txm.3,p.E1850K|uc002txn.3,p.E1850K|NM_001177664,p.E1850K|ENST00000243326,p.E1850K|NM_001177663,p.E1850K|uc002txl.3,p.E1850K|ENST00000444746,p.E1850K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002txo.3	nonsynonymous SNV	exon29	c.G5548A	p.E1850K	ICDMDSSEAMSLESQESPNENFKTV	ICDMDSSEAMSLKSQESPNENFKTV	9.0	2.0	-	-	2556_2:152321582-152321582 G>A_ICDMDSSEAMSLKSQESPNENFKTV
X:18972407-18972407 C>T	0.0	2556	MELANOMA	-	-	-	-	PHKA2	ENST00000379942,p.D68N|NM_000292,p.D68N|uc004cyv.4,p.D68N	protein_coding, processed_transcript	uc004cyv.4	nonsynonymous SNV	exon2	c.G202A	p.D68N	GLGMAYRKNADRDEDKAKAYELEQN	GLGMAYRKNADRNEDKAKAYELEQN	7.0	3.0	-	-	2556_X:18972407-18972407 C>T_GLGMAYRKNADRNEDKAKAYELEQN
2:175431828-175431828 G>A	1.0	2556	MELANOMA	-	-	-	-	WIPF1	uc002ujb.2,p.P476S|ENST00000409891,p.P476S	retained_intron, protein_coding, processed_transcript	uc002ujb.2	nonsynonymous SNV	exon7	c.C1426T	p.P476S	PPEPYVQTTKSYPSKLARNESRSEY	PPEPYVQTTKSYSSKLARNESRSEY	10.0	2.0	unscreened	-	2556_2:175431828-175431828 G>A_PPEPYVQTTKSYSSKLARNESRSEY
6:31749703-31749703 A>C	1.0	2556	MELANOMA	-	-	-	-	VARS	NM_006295,p.S756R|ENST00000375663,p.S756R|uc003nxe.3,p.S756R	retained_intron, protein_coding, processed_transcript	uc003nxe.3	nonsynonymous SNV	exon19	c.T2268G	p.S756R	PPGEDPDGRYWVSGRNEAEAREKAA	PPGEDPDGRYWVRGRNEAEAREKAA	10.0	3.0	-	-	2556_6:31749703-31749703 A>C_PPGEDPDGRYWVRGRNEAEAREKAA
4:144135029-144135029 C>T	1.0	2556	MELANOMA	-	-	-	-	USP38	NM_032557,p.P634S|uc003ijb.3,p.P634S|NM_001290325,p.P634S|uc003ija.4,p.P634S|NM_001290326,p.P179S|ENST00000510377,p.P634S|ENST00000307017,p.P634S	protein_coding, nonsense_mediated_decay	uc003ijb.3	nonsynonymous SNV	exon9	c.C1900T	p.P634S	PSSSLENMSVQDPASSPSIQDGGLM	PSSSLENMSVQDSASSPSIQDGGLM	7.0	3.0	-	-	2556_4:144135029-144135029 C>T_PSSSLENMSVQDSASSPSIQDGGLM
1:3328403-3328403 C>T	0.0	2556	MELANOMA	-	-	-	1	PRDM16	uc001akf.3,p.P548S|ENST00000514189,p.P549S|ENST00000270722,p.P548S|uc001akc.3,p.P548S|ENST00000442529,p.P548S|uc001ake.3,p.P548S|ENST00000378398,p.P549S|NM_022114,p.P548S|ENST00000378391,p.P548S|ENST00000511072,p.P549S|ENST00000509860,p.P357S|NM_199454,p.P548S|ENST00000441472,p.P548S|uc009vlh.3,p.P249S	protein_coding, processed_transcript	uc009vlh.3	nonsynonymous SNV	exon9	c.C745T	p.P249S	KSPLNHTQDAKLPSPLGNPALPLVS	KSPLNHTQDAKLSSPLGNPALPLVS	4.0	4.0	unscreened	-	2556_1:3328403-3328403 C>T_KSPLNHTQDAKLSSPLGNPALPLVS
2:99439597-99439597 G>A	0.0	2556	MELANOMA	-	-	-	-	KIAA1211L	uc002szf.1,p.P380L|ENST00000397899,p.P380L|NM_207362,p.P380L	protein_coding, processed_transcript	uc002szf.1	nonsynonymous SNV	exon7	c.C1139T	p.P380L	GGKQDGEAPPAGPCAPATDKAEEVV	GGKQDGEAPPAGLCAPATDKAEEVV	1.0	9.0	unscreened	-	2556_2:99439597-99439597 G>A_GGKQDGEAPPAGLCAPATDKAEEVV
1:34190242-34190242 C>T	0.0	2556	MELANOMA	-	-	-	-	CSMD2	uc001bxn.1,p.G880E|ENST00000373381,p.G920E|ENST00000241312,p.G880E|uc001bxm.1,p.G920E|NM_001281956,p.G920E|NM_052896,p.G880E	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxn.1	nonsynonymous SNV	exon18	c.G2639A	p.G880E	LDPGIPVNGQRHGNDFYVGALVTFS	LDPGIPVNGQRHENDFYVGALVTFS	2.0	8.0	unscreened	-	2556_1:34190242-34190242 C>T_LDPGIPVNGQRHENDFYVGALVTFS
1:201016655-201016655 C>T	0.0	2556	MELANOMA	-	-	-	-	CACNA1S	ENST00000367338,p.G1495E|NM_000069,p.G1514E|uc001gvv.3,p.G1514E|ENST00000362061,p.G1514E	protein_coding	uc001gvv.3	nonsynonymous SNV	exon37	c.G4541A	p.G1514E	SMKLLDQVIPPIGDDEVTVGKFYAT	SMKLLDQVIPPIEDDEVTVGKFYAT	1.0	8.0	unscreened	-	2556_1:201016655-201016655 C>T_SMKLLDQVIPPIEDDEVTVGKFYAT
19:17086913-17086913 C>T	0.0	2556	MELANOMA	-	-	ID=COSM260268;OCCURENCE=1(large_intestine)	-	CPAMD8	NM_015692,p.D650N|ENST00000443236,p.D650N|uc002nfb.3,p.D650N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nfb.3	nonsynonymous SNV	exon16	c.G1948A	p.D650N	YSANETQPGEVVDLRIRAARGSCVC	YSANETQPGEVVNLRIRAARGSCVC	1.0	4.0	unscreened	-	2556_19:17086913-17086913 C>T_YSANETQPGEVVNLRIRAARGSCVC
4:52926959-52926959 G>A	0.0	2556	MELANOMA	-	-	-	-	SPATA18	uc011bzq.2,p.D69N|NM_145263,p.D69N|ENST00000505320,p.D69N|ENST00000295213,p.D69N|ENST00000505038,p.D69N|NM_001297608,p.D69N|uc003gzk.1,p.D69N|uc003gzl.3,p.D69N|ENST00000419395,p.D69N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bzq.2	nonsynonymous SNV	exon3	c.G205A	p.D69N	ILTAAAQEGGRNDGVETIKSRLLPW	ILTAAAQEGGRNNGVETIKSRLLPW	3.0	2.0	-	-	2556_4:52926959-52926959 G>A_ILTAAAQEGGRNNGVETIKSRLLPW
16:71196479-71196479 C>T	0.0	2556	MELANOMA	-	rs113898693	ID=COSM1379577,COSM304275,COSM304277,COSM304278,COSM304276;OCCURENCE=2(large_intestine)	-	HYDIN	NM_001198543,p.R241Q|ENST00000393567,p.R224Q|ENST00000393550,p.R224Q|ENST00000321489,p.R224Q|NM_001270974,p.R224Q|NM_001198542,p.R251Q|ENST00000538248,p.R251Q|uc021tkq.2,p.R224Q|NM_017558,p.R224Q|uc010vmc.2,p.R241Q|ENST00000288168,p.R241Q|ENST00000541601,p.R241Q|ENST00000448089,p.R224Q|uc031qwy.1,p.R224Q|ENST00000448691,p.R224Q|uc002ezw.4,p.R241Q|uc010vmd.2,p.R251Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon6	c.G671A	p.R224Q	PVKYSTQKILLVRNIGNKNAVFHIK	PVKYSTQKILLVQNIGNKNAVFHIK	3.0	2.0	unscreened	-	2556_16:71196479-71196479 C>T_PVKYSTQKILLVQNIGNKNAVFHIK
13:67801893-67801893 C>T	1.0	2556	MELANOMA	-	-	-	-	PCDH9	NM_203487,p.G227E|NM_020403,p.G227E|ENST00000328454,p.G227E|uc001vil.3,p.G227E|uc001vin.3,p.G227E|ENST00000377861,p.G227E|ENST00000377865,p.G227E|ENST00000456367,p.G227E|uc001vik.3,p.G227E|uc010thl.2,p.G227E|ENST00000544246,p.G227E	protein_coding	uc010thl.2	nonsynonymous SNV	exon2	c.G680A	p.G227E	KDTYVMKIKVEDGGTPQKSSTAILQ	KDTYVMKIKVEDEGTPQKSSTAILQ	7.0	2.0	-	-	2556_13:67801893-67801893 C>T_KDTYVMKIKVEDEGTPQKSSTAILQ
5:13914018-13914018 G>A	0.0	2556	MELANOMA	-	-	-	-	DNAH5	uc003jfd.2,p.P457L|NM_001369,p.P457L|ENST00000265104,p.P457L	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon11	c.C1370T	p.P457L	CFHKTKQKLKQNPNAKQFDFSEMYI	CFHKTKQKLKQNLNAKQFDFSEMYI	1.0	2.0	unscreened	-	2556_5:13914018-13914018 G>A_CFHKTKQKLKQNLNAKQFDFSEMYI
7:115750878-115750878 C>T	0.0	2556	MELANOMA	-	-	-	-	TFEC,TES	uc011kmw.2,p.E28K|ENST00000484212,p.E28K	protein_coding, processed_transcript	uc011kmw.2	nonsynonymous SNV	exon3	c.G82A	p.E28K	LGEKERRLQISQEISAHRTEFHMQF	LGEKERRLQISQKISAHRTEFHMQF	5.0	1.0	unscreened	-	2556_7:115750878-115750878 C>T_LGEKERRLQISQKISAHRTEFHMQF
1:190067177-190067177 C>T	0.0	2556	MELANOMA	-	-	-	-	BRINP3	uc001gse.1,p.D758N|ENST00000367462,p.D758N|ENST00000534846,p.D656N|uc010pot.1,p.D656N|NM_199051,p.D758N	protein_coding, processed_transcript	uc010pot.1	nonsynonymous SNV	exon7	c.G1966A	p.D656N	LQAFNAKLPNTMDYDTTKLCS	LQAFNAKLPNTMNYDTTKLCS	2.0	4.0	unscreened	-	2556_1:190067177-190067177 C>T_LQAFNAKLPNTMNYDTTKLCS
5:121759418-121759418 G>A	0.0	2556	MELANOMA	-	-	-	-	SNCAIP	ENST00000379536,p.G329E|uc010jcx.1,p.G329E|ENST00000509154,p.G329E	retained_intron, protein_coding, nonsense_mediated_decay	uc010jcx.1	nonsynonymous SNV	exon3	c.G986A	p.G329E	KKVKSILNIVKEGQISLLNGQLECV	KKVKSILNIVKEEQISLLNGQLECV	1.0	7.0	unscreened	-	2556_5:121759418-121759418 G>A_KKVKSILNIVKEEQISLLNGQLECV
10:50315981-50315981 C>T	0.0	2556	MELANOMA	-	-	-	-	VSTM4	uc001jhf.2,p.G39R|NM_001031746,p.G39R|ENST00000332853,p.G39R|NM_144984,p.G39R|ENST00000298454,p.G39R|uc001jhh.2,p.G39R	protein_coding, processed_transcript	uc001jhh.2	nonsynonymous SNV	exon2	c.G115A	p.G39R	TVSPGPVVDYLEGENATLLCHVSQK	TVSPGPVVDYLERENATLLCHVSQK	3.0	6.0	unscreened	-	2556_10:50315981-50315981 C>T_TVSPGPVVDYLERENATLLCHVSQK
12:53201524-53201524 C>T	0.0	2556	MELANOMA	-	-	-	-	KRT4	NM_002272,p.R417Q|ENST00000551956,p.R417Q|ENST00000458244,p.R397Q|ENST00000293774,p.R491Q|uc031qhk.1,p.R417Q	retained_intron, protein_coding, nonsense_mediated_decay	uc031qhk.1	nonsynonymous SNV	exon7	c.G1250A	p.R417Q	EAALQQAKEELARMLREYQELMSVK	EAALQQAKEELAQMLREYQELMSVK	1.0	4.0	unscreened	-	2556_12:53201524-53201524 C>T_EAALQQAKEELAQMLREYQELMSVK
2:196729214-196729214 C>T	0.0	2556	MELANOMA	-	-	-	-	DNAH7	uc002utj.4,p.E2389K|ENST00000312428,p.E2389K|NM_018897,p.E2389K	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon41	c.G7165A	p.E2389K	HEDLKVILRKCAEGEMQGVFLFTDT	HEDLKVILRKCAKGEMQGVFLFTDT	3.0	8.0	unscreened	-	2556_2:196729214-196729214 C>T_HEDLKVILRKCAKGEMQGVFLFTDT
21:41414310-41414310 C>A	0.0	2556	MELANOMA	-	-	-	-	DSCAM	uc002yyq.1,p.A1892S|NM_001389,p.A1892S|ENST00000400454,p.A1892S	protein_coding	uc002yyq.1	nonsynonymous SNV	exon32	c.G5674T	p.A1892S	DGGRVMNMAVPKAHRPGDLIHLPPY	DGGRVMNMAVPKSHRPGDLIHLPPY	1.0	2.0	unscreened	-	2556_21:41414310-41414310 C>A_DGGRVMNMAVPKSHRPGDLIHLPPY
X:54960286-54960286 C>T	0.0	2556	MELANOMA	-	-	-	-	PFKFB1	ENST00000545676,p.E377K|NM_001271804,p.E420K|uc011mol.2,p.E377K|uc010nkd.2,p.E250K|ENST00000375006,p.E442K|uc031tjq.1,p.E215K|NM_001271805,p.E377K|ENST00000374992,p.E242K|NM_002625,p.E442K|uc031tjp.1,p.E420K|uc004dty.2,p.E442K	protein_coding	uc031tjq.1	nonsynonymous SNV	exon12	c.G643A	p.E215K	YGCKVESIYLNVEAVNTHREKPENV	YGCKVESIYLNVKAVNTHREKPENV	1.0	3.0	unscreened	-	2556_X:54960286-54960286 C>T_YGCKVESIYLNVKAVNTHREKPENV
4:73003804-73003804 G>A	0.0	2556	MELANOMA	-	-	-	-	NPFFR2	ENST00000344413,p.G116E	protein_coding, processed_transcript	ENST00000344413	nonsynonymous SNV	exon2	c.G347A	p.G116E	WKHDVQDQWIGPGNICRSFSLYVSC	WKHDVQDQWIGPENICRSFSLYVSC	1.0	8.0	unscreened	-	2556_4:73003804-73003804 G>A_WKHDVQDQWIGPENICRSFSLYVSC
2:31010116-31010116 C>T	0.0	2556	MELANOMA	-	-	-	-	CAPN13	uc021vfm.1,p.D26N|uc002rnp.1,p.D26N|uc021vfn.1,p.D26N|ENST00000295055,p.D26N|ENST00000458085,p.D26N|ENST00000534090,p.D26N|ENST00000485248,p.D26N|NM_144575,p.D26N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vfn.1	nonsynonymous SNV	exon1	c.G76A	p.D26N	IKFKDQDFTTLRDHCLSMGRTFKDE	IKFKDQDFTTLRNHCLSMGRTFKDE	1.0	6.0	unscreened	-	2556_2:31010116-31010116 C>T_IKFKDQDFTTLRNHCLSMGRTFKDE
4:88537555-88537555 ->GATAGTAGT	0.0	2556	MELANOMA	-	-	-	-	DSPP	NM_014208,p.S1247delinsSDSS|ENST00000282478,p.S1247delinsSDSS|uc003hqu.3,p.S1247delinsSDSS|ENST00000399271,p.S1247delinsSDSS	protein_coding	uc003hqu.3	nonframeshift insertion	exon5	c.3741_3742insGATAGTAGT	p.S1247delinsSDSS	SDSSDSSDSSDSSNSSDSSDSSDSS	SDSSDSSDSSDSSDSSNSSDSSDSS	1.0	1.0	unscreened	-	2556_4:88537555-88537555 ->GATAGTAGT_SDSSDSSDSSDSSDSSNSSDSSDSS
21:35742779-35742779 T>C	0.0	2556	MELANOMA	-	-	-	-	KCNE2	uc021wis.1,p.M1T|ENST00000290310,p.M1T|uc002ytt.1,p.M1T|NM_172201,p.M1T	protein_coding	uc021wis.1	nonsynonymous SNV	exon1	c.T2C	p.M1T	MSTLSNFTQTLED	TSTLSNFTQTLED	3.0	2.0	unscreened	-	2556_21:35742779-35742779 T>C_TSTLSNFTQTLED
19:9070263-9070263 G>A	0.0	2556	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.S5728F|NM_024690,p.S5728F|ENST00000397910,p.S5728F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C17183T	p.S5728F	TNTAVANVGTSISGHESQSSVPADS	TNTAVANVGTSIFGHESQSSVPADS	1.0	4.0	unscreened	-	2556_19:9070263-9070263 G>A_TNTAVANVGTSIFGHESQSSVPADS
6:30917940-30917940 C>T	0.0	2556	MELANOMA	-	-	-	-	DPCR1	NM_080870,p.P567S|ENST00000462446,p.P567S|uc003nsg.2,p.P567S	protein_coding	uc003nsg.2	nonsynonymous SNV	exon2	c.C1699T	p.P567S	SPAEPTENGDRTPLANEKTTPSLAE	SPAEPTENGDRTSLANEKTTPSLAE	1.0	4.0	unscreened	-	2556_6:30917940-30917940 C>T_SPAEPTENGDRTSLANEKTTPSLAE
X:130215786-130215786 G>A	0.0	2556	MELANOMA	-	-	-	-	ARHGAP36	ENST00000370922,p.M37I|NM_001282607,p.M37I|uc004evz.3,p.M49I|ENST00000412432,p.M18I|uc004ewa.3,p.M37I|uc004ewb.3,p.M18I|NM_144967,p.M49I|ENST00000276211,p.M49I	protein_coding	uc004ewb.3	nonsynonymous SNV	exon2	c.G54A	p.M18I	GAPGHNPDRRTKMVSIHSLSELERL	GAPGHNPDRRTKIVSIHSLSELERL	1.0	3.0	unscreened	-	2556_X:130215786-130215786 G>A_GAPGHNPDRRTKIVSIHSLSELERL
2:219229411-219229411 G>A	0.0	2556	MELANOMA	-	-	-	-	CATIP	uc002vhr.3,p.E231K|ENST00000289388,p.E231K|NM_198559,p.E231K	retained_intron, protein_coding, processed_transcript	uc002vhr.3	nonsynonymous SNV	exon7	c.G691A	p.E231K	QVDHQQAEVFIVEQTVHAEEGIPMS	QVDHQQAEVFIVKQTVHAEEGIPMS	1.0	7.0	unscreened	-	2556_2:219229411-219229411 G>A_QVDHQQAEVFIVKQTVHAEEGIPMS
2:101093706-101093706 G>A	0.0	2556	MELANOMA	-	-	-	-	NMS	uc002tan.1,p.D62N|NM_001011717,p.D62N|ENST00000376865,p.D62N	protein_coding	uc002tan.1	nonsynonymous SNV	exon4	c.G184A	p.D62N	LSQWAPLSRQPKDNQDIYKRFLFHY	LSQWAPLSRQPKNNQDIYKRFLFHY	1.0	8.0	unscreened	-	2556_2:101093706-101093706 G>A_LSQWAPLSRQPKNNQDIYKRFLFHY
2:179613716-179613716 C>T	0.0	2556	MELANOMA	-	-	ID=COSM1691452;OCCURENCE=1(skin)	-	TTN	NM_133379,p.G4471R|ENST00000360870,p.G4471R|uc002unb.3,p.G4471R	retained_intron, protein_coding	uc002unb.3	nonsynonymous SNV	exon46	c.G13411A	p.G4471R	RIIEFEKLHVEKGVLEKRPTRTSIV	RIIEFEKLHVEKRVLEKRPTRTSIV	2.0	2.0	unscreened	-	2556_2:179613716-179613716 C>T_RIIEFEKLHVEKRVLEKRPTRTSIV
6:34496551-34496551 A>G	0.0	2556	MELANOMA	-	-	-	-	PACSIN1	NM_020804,p.K118R|uc003ojp.4,p.K118R|NM_001199583,p.K118R|ENST00000374043,p.K76R|ENST00000244458,p.K118R|uc003ojo.4,p.K118R|ENST00000538621,p.K118R	protein_coding, processed_transcript	uc003ojp.4	nonsynonymous SNV	exon4	c.A353G	p.K118R	LNEDLEKVKNWQKDAYHKQIMGGFK	LNEDLEKVKNWQRDAYHKQIMGGFK	1.0	2.0	-	-	2556_6:34496551-34496551 A>G_LNEDLEKVKNWQRDAYHKQIMGGFK
21:30325541-30325541 G>C	1.0	2556	MELANOMA	-	-	-	-	LTN1	NM_015565,p.N1125K|ENST00000389194,p.N1125K|ENST00000361371,p.N1079K|uc002ymr.2,p.N1125K	protein_coding, processed_transcript	uc002ymr.2	nonsynonymous SNV	exon17	c.C3375G	p.N1125K	LGNTSGLLQLLFNRSREHGTLWSLI	LGNTSGLLQLLFKRSREHGTLWSLI	7.0	6.0	-	-	2556_21:30325541-30325541 G>C_LGNTSGLLQLLFKRSREHGTLWSLI
21:41414310-41414310 C>A	0.0	2556	MELANOMA	-	-	-	-	DSCAM	uc031rvr.1,p.A1892S|ENST00000404019,p.A1644S|NM_001271534,p.A1892S	protein_coding	uc031rvr.1	nonsynonymous SNV	exon32	c.G5674T	p.A1892S	DGGRVMNMAVPKAHRPGGPGTSRDL	DGGRVMNMAVPKSHRPGGPGTSRDL	1.0	2.0	unscreened	-	2556_21:41414310-41414310 C>A_DGGRVMNMAVPKSHRPGGPGTSRDL
10:19569096-19569096 T>G	0.0	2556	MELANOMA	-	-	-	-	MALRD1	NM_001142308,p.M1067R|ENST00000377266,p.M376R|ENST00000454679,p.M363R	protein_coding, processed_transcript	NM_001142308	nonsynonymous SNV	exon20	c.T3200G	p.M1067R	FICRSDGHCIEKMQKCDFKYDCPDK	FICRSDGHCIEKRQKCDFKYDCPDK	1.0	8.0	unscreened	-	2556_10:19569096-19569096 T>G_FICRSDGHCIEKRQKCDFKYDCPDK
1:216424334-216424334 G>A	0.0	2556	MELANOMA	-	-	-	-	USH2A	NM_206933,p.P693L|NM_007123,p.P693L|ENST00000366943,p.P693L|ENST00000366942,p.P693L|ENST00000307340,p.P693L|uc001hkv.3,p.P693L|uc001hku.1,p.P693L	retained_intron, protein_coding	uc001hkv.3	nonsynonymous SNV	exon12	c.C2078T	p.P693L	YNLQELDPDGCSPCNCNTSGTVDGD	YNLQELDPDGCSLCNCNTSGTVDGD	1.0	5.0	unscreened	-	2556_1:216424334-216424334 G>A_YNLQELDPDGCSLCNCNTSGTVDGD
6:47649844-47649844 G>A	0.0	2556	MELANOMA	-	-	-	-	GPR111	uc003oyy.3,p.G449R|uc010jzj.1,p.G517R|NM_153839,p.G449R|ENST00000467205,p.G449R|ENST00000296862,p.G517R|ENST00000507065,p.G449R|ENST00000398742,p.G449R	protein_coding, nonsense_mediated_decay	uc010jzj.1	nonsynonymous SNV	exon6	c.G1549A	p.G517R	ASFLSGPITHHKGCVAATFFVHFFY	ASFLSGPITHHKRCVAATFFVHFFY	1.0	6.0	unscreened	-	2556_6:47649844-47649844 G>A_ASFLSGPITHHKRCVAATFFVHFFY
5:121759418-121759418 G>A	0.0	2556	MELANOMA	-	-	-	-	SNCAIP	ENST00000503116,p.G376E|ENST00000379533,p.G376E|ENST00000395469,p.G376E|ENST00000261368,p.G329E|NM_005460,p.G329E|ENST00000261367,p.G376E|uc003ksw.1,p.G329E|uc003ksx.1,p.G376E|uc010jct.3,p.G329E	retained_intron, protein_coding, nonsense_mediated_decay	uc010jct.3	nonsynonymous SNV	exon4	c.G986A	p.G329E	KKVKSILNIVKEGQISLLPHLAADN	KKVKSILNIVKEEQISLLPHLAADN	1.0	7.0	unscreened	-	2556_5:121759418-121759418 G>A_KKVKSILNIVKEEQISLLPHLAADN
8:87683190-87683190 C>T	0.0	2556	MELANOMA	-	-	ID=COSM1458496;OCCURENCE=1(large_intestine)	-	CNGB3	ENST00000320005,p.E159K|uc010maj.3,p.E21K|uc003ydx.3,p.E159K|NM_019098,p.E159K	protein_coding, processed_transcript	uc010maj.3	nonsynonymous SNV	exon1	c.G61A	p.E21K	KKKLVEGDLSSPEASPQTAKPTAVP	KKKLVEGDLSSPKASPQTAKPTAVP	1.0	2.0	unscreened	-	2556_8:87683190-87683190 C>T_KKKLVEGDLSSPKASPQTAKPTAVP
17:7017517-7017517 C>T	0.0	2556	MELANOMA	-	-	-	-	ASGR2	ENST00000355035,p.E15K|NM_001201352,p.E15K|ENST00000574868,p.E15K|ENST00000380952,p.E15K|NM_080912,p.E15K|NM_001181,p.E15K|uc002gep.3,p.E15K|uc002geo.2,p.E15K|uc002ger.3,p.E15K	retained_intron, protein_coding, nonsense_mediated_decay	uc002ger.3	nonsynonymous SNV	exon2	c.G43A	p.E15K	KDFQDIQQLSSEENDHPFHQGEGPG	KDFQDIQQLSSEKNDHPFHQGEGPG	1.0	8.0	unscreened	-	2556_17:7017517-7017517 C>T_KDFQDIQQLSSEKNDHPFHQGEGPG
6:30954434-30954434 A>G	0.0	2556	MELANOMA	-	rs9262337	-	-	MUC21	NM_001010909,p.E161G|uc003nsh.2,p.E161G|ENST00000376296,p.E161G|uc021yuf.1,p.E145G	protein_coding	uc021yuf.1	nonsynonymous SNV	exon1	c.A434G	p.E145G	TATNSDSSTTSSEASTATNSESSTT	TATNSDSSTTSSGASTATNSESSTT	1.0	2.0	unscreened	-	2556_6:30954434-30954434 A>G_TATNSDSSTTSSGASTATNSESSTT
17:27372010-27372010 G>A	0.0	2556	MELANOMA	-	-	-	-	PIPOX	ENST00000469082,p.G17E|ENST00000466889,p.G17E|uc002hdr.1,p.G83E|ENST00000323372,p.G83E|NM_016518,p.G83E	protein_coding, processed_transcript	uc002hdr.1	nonsynonymous SNV	exon2	c.G248A	p.G83E	CYQIWAQLEHEAGTQLHRQTGLLLL	CYQIWAQLEHEAETQLHRQTGLLLL	3.0	7.0	unscreened	-	2556_17:27372010-27372010 G>A_CYQIWAQLEHEAETQLHRQTGLLLL
10:118101572-118101572 G>A	0.0	2556	MELANOMA	-	-	-	-	CCDC172	NM_198515,p.E103K|ENST00000333254,p.E103K|uc001lck.3,p.E103K	protein_coding, processed_transcript	uc001lck.3	nonsynonymous SNV	exon5	c.G307A	p.E103K	LQTFEAIKKQMIEEEDKFIKEITDF	LQTFEAIKKQMIKEEDKFIKEITDF	1.0	8.0	unscreened	-	2556_10:118101572-118101572 G>A_LQTFEAIKKQMIKEEDKFIKEITDF
22:31533830-31533830 C>T	0.0	2556	MELANOMA	-	-	-	-	PLA2G3	uc003aka.3,p.G311E|ENST00000215885,p.G311E|NM_015715,p.G311E	protein_coding	uc003aka.3	nonsynonymous SNV	exon4	c.G932A	p.G311E	PPKPRQKQHLRKGPPHQKGSKRPSK	PPKPRQKQHLRKEPPHQKGSKRPSK	1.0	8.0	unscreened	-	2556_22:31533830-31533830 C>T_PPKPRQKQHLRKEPPHQKGSKRPSK
20:2312746-2312746 G>A	0.0	2556	MELANOMA	-	-	-	-	TGM3	NM_003245,p.E478K|ENST00000381458,p.E478K|uc002wfx.4,p.E478K	protein_coding, processed_transcript	uc002wfx.4	nonsynonymous SNV	exon10	c.G1432A	p.E478K	FAATSSMGLETEEQEPSIIGKLKVA	FAATSSMGLETEKQEPSIIGKLKVA	1.0	8.0	unscreened	-	2556_20:2312746-2312746 G>A_FAATSSMGLETEKQEPSIIGKLKVA
17:7017517-7017517 C>T	0.0	2556	MELANOMA	-	-	-	-	ASGR2	NM_080913,p.E15K|ENST00000254850,p.E15K|uc010clw.2,p.E15K|ENST00000446679,p.E15K|uc002gen.1,p.E15K|uc002geq.3,p.E15K|NM_080914,p.E15K	retained_intron, protein_coding, nonsense_mediated_decay	uc010clw.2	nonsynonymous SNV	exon2	c.G43A	p.E15K	KDFQDIQQLSSEENDHPFHQGPPPA	KDFQDIQQLSSEKNDHPFHQGPPPA	1.0	8.0	unscreened	-	2556_17:7017517-7017517 C>T_KDFQDIQQLSSEKNDHPFHQGPPPA
8:110445367-110445367 G>T	0.0	2556	MELANOMA	-	-	-	-	PKHD1L1	ENST00000378402,p.V1088L|NM_177531,p.V1088L|uc003yne.3,p.V1088L	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon28	c.G3262T	p.V1088L	QGSYEEGTILTIVGSGFSPSSAVTV	QGSYEEGTILTILGSGFSPSSAVTV	1.0	5.0	unscreened	-	2556_8:110445367-110445367 G>T_QGSYEEGTILTILGSGFSPSSAVTV
2:163693142-163693142 C>T	0.0	2556	MELANOMA	-	-	-	-	KCNH7	ENST00000332142,p.G71E|NM_173162,p.G71E|uc002uci.3,p.G71E|uc002uch.2,p.G71E|NM_033272,p.G71E|ENST00000328032,p.G71E	protein_coding, processed_transcript	uc002uci.3	nonsynonymous SNV	exon2	c.G212A	p.G71E	VMQKPCTCDFLHGPETKRHDIAQIA	VMQKPCTCDFLHEPETKRHDIAQIA	1.0	7.0	unscreened	-	2556_2:163693142-163693142 C>T_VMQKPCTCDFLHEPETKRHDIAQIA
9:100698475-100698475 C>T	0.0	2556	MELANOMA	-	-	ID=COSM1701394;OCCURENCE=1(skin)	-	HEMGN	ENST00000259456,p.E51K|uc004axy.4,p.E51K|NM_018437,p.E51K|uc004axz.4,p.E51K|NM_197978,p.E51K	protein_coding	uc004axz.4	nonsynonymous SNV	exon3	c.G151A	p.E51K	LLRKRKAEVHEKETSQWLFGEQKKR	LLRKRKAEVHEKKTSQWLFGEQKKR	1.0	8.0	unscreened	-	2556_9:100698475-100698475 C>T_LLRKRKAEVHEKKTSQWLFGEQKKR
21:46012305-46012305 G>A	0.0	2556	MELANOMA	-	-	-	-	KRTAP10-6	NM_198688,p.L21F|uc002zfm.3,p.L21F|ENST00000400368,p.L21F	protein_coding	uc002zfm.3	nonsynonymous SNV	exon1	c.C61T	p.L21F	CSSDLSYGSRVCLPGSCDSCSDSWQ	CSSDLSYGSRVCFPGSCDSCSDSWQ	1.0	4.0	unscreened	-	2556_21:46012305-46012305 G>A_CSSDLSYGSRVCFPGSCDSCSDSWQ
10:106214233-106214233 G>A	0.0	2556	MELANOMA	-	-	ID=COSM914579;OCCURENCE=1(endometrium)	-	CFAP58	uc001kyh.3,p.G855D|ENST00000369704,p.G855D|NM_001008723,p.G855D	protein_coding	uc001kyh.3	nonsynonymous SNV	exon18	c.G2564A	p.G855D	PMDNTFLMVKPNGPGFTGGGFPLRS	PMDNTFLMVKPNDPGFTGGGFPLRS	3.0	5.0	unscreened	-	2556_10:106214233-106214233 G>A_PMDNTFLMVKPNDPGFTGGGFPLRS
5:71756273-71756273 C>T	0.0	2556	MELANOMA	-	-	ID=COSM1069875;OCCURENCE=1(endometrium)	-	ZNF366	NM_152625,p.E351K|ENST00000318442,p.E351K|uc003kce.1,p.E351K	protein_coding, nonsense_mediated_decay	uc003kce.1	nonsynonymous SNV	exon2	c.G1051A	p.E351K	CRVCGRGFAYPSELKAHEAKHASGR	CRVCGRGFAYPSKLKAHEAKHASGR	1.0	6.0	unscreened	-	2556_5:71756273-71756273 C>T_CRVCGRGFAYPSKLKAHEAKHASGR
X:21675048-21675048 C>T	0.0	2556	MELANOMA	-	-	-	-	KLHL34	NM_153270,p.G287R|ENST00000379499,p.G287R|uc004czz.1,p.G287R	protein_coding	uc004czz.1	nonsynonymous SNV	exon1	c.G859A	p.G287R	IRSPQTRILLVGGRRAREVVIEEVA	IRSPQTRILLVGRRRAREVVIEEVA	1.0	4.0	unscreened	-	2556_X:21675048-21675048 C>T_IRSPQTRILLVGRRRAREVVIEEVA
1:160254878-160254878 C>T	1.0	2556	MELANOMA	-	-	-	-	PEX19	ENST00000472750,p.E13K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000472750	nonsynonymous SNV	exon1	c.G37A	p.E13K	MAAAEEGCSVGAEADRELEELLERC	MAAAEEGCSVGAKADRELEELLERC	10.0	5.0	unscreened	-	2556_1:160254878-160254878 C>T_MAAAEEGCSVGAKADRELEELLERC
1:182026956-182026956 C>T	0.0	2556	MELANOMA	-	-	ID=COSM1689349;OCCURENCE=2(skin)	-	ZNF648	uc021pfu.1,p.E64K|NM_001009992,p.E64K|uc001goz.3,p.E64K|ENST00000339948,p.E64K	protein_coding	uc021pfu.1	nonsynonymous SNV	exon1	c.G190A	p.E64K	VACPRGSSPVTHENPDLPWPHPLGK	VACPRGSSPVTHKNPDLPWPHPLGK	3.0	3.0	unscreened	-	2556_1:182026956-182026956 C>T_VACPRGSSPVTHKNPDLPWPHPLGK
4:47954616-47954616 C>T	0.0	2556	MELANOMA	-	-	-	-	CNGA1	ENST00000544810,p.E35K|uc003gxt.4,p.E35K|uc003gxv.1,p.E35K|ENST00000358519,p.E35K|ENST00000514520,p.E35K|ENST00000513178,p.E35K|ENST00000402813,p.E104K|uc003gxu.3,p.E104K|ENST00000504722,p.E35K|NM_000087,p.E35K|ENST00000420489,p.E35K|ENST00000514170,p.E35K|NM_001142564,p.E104K	retained_intron, protein_coding	uc003gxv.1	nonsynonymous SNV	exon4	c.G103A	p.E35K	IVPDIEKEIRRMENGACSSFSEDDD	IVPDIEKEIRRMKNGACSSFSEDDD	4.0	3.0	unscreened	-	2556_4:47954616-47954616 C>T_IVPDIEKEIRRMKNGACSSFSEDDD
12:113307703-113307703 G>A	0.0	2556	MELANOMA	-	-	-	-	RPH3A	ENST00000415485,p.D219N|uc001tty.3,p.D215N|ENST00000389385,p.D219N|uc009zwe.1,p.D215N|ENST00000551052,p.D215N|uc010syl.2,p.D219N|ENST00000548866,p.D170N|NM_014954,p.D215N|ENST00000447659,p.D170N|NM_001143854,p.D219N|ENST00000543106,p.D219N|uc010sym.2,p.D170N|uc001ttz.3,p.D219N|ENST00000420983,p.D219N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sym.2	nonsynonymous SNV	exon8	c.G508A	p.D170N	EDRRGPGQKTGPDPASAPGRGNYGP	EDRRGPGQKTGPNPASAPGRGNYGP	2.0	3.0	unscreened	-	2556_12:113307703-113307703 G>A_EDRRGPGQKTGPNPASAPGRGNYGP
11:7110934-7110934 C>T	0.0	2556	MELANOMA	-	-	-	-	RBMXL2	ENST00000306904,p.R195C|NM_014469,p.R195C|uc001mfc.2,p.R195C	protein_coding	uc001mfc.2	nonsynonymous SNV	exon1	c.C583T	p.R195C	AVRGRDGYSGPPRREPLPPRRDPYL	AVRGRDGYSGPPCREPLPPRRDPYL	1.0	3.0	unscreened	-	2556_11:7110934-7110934 C>T_AVRGRDGYSGPPCREPLPPRRDPYL
2:219256216-219256216 G>A	0.0	2556	MELANOMA	-	-	-	-	SLC11A1	uc010fvp.1,p.E388K|uc010fvq.1,p.E321K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fvq.1	nonsynonymous SNV	exon10	c.G961A	p.E321K	TMTGTYAGQFVMEAGVQWRDLRLTA	TMTGTYAGQFVMKAGVQWRDLRLTA	1.0	5.0	unscreened	-	2556_2:219256216-219256216 G>A_TMTGTYAGQFVMKAGVQWRDLRLTA
17:37342761-37342761 G>A	1.0	2556	MELANOMA	-	-	-	-	CACNB1	NM_000723,p.P206S|NM_199248,p.P206S|uc002hrn.3,p.P206S|ENST00000394303,p.P206S|uc002hrm.2,p.P206S|ENST00000394310,p.P206S	retained_intron, protein_coding, processed_transcript	uc002hrn.3	nonsynonymous SNV	exon6	c.C616T	p.P206S	LGDVVTGTRRPTPPASAKQKQKSTE	LGDVVTGTRRPTSPASAKQKQKSTE	5.0	5.0	-	-	2556_17:37342761-37342761 G>A_LGDVVTGTRRPTSPASAKQKQKSTE
19:44933212-44933212 G>A	0.0	2556	MELANOMA	0.0018	-	-	-	ZNF229	ENST00000291187,p.R576W|ENST00000588931,p.R582W|uc010ejk.1,p.R236W|uc002oze.1,p.R582W|uc010ejl.1,p.R576W|NM_014518,p.R582W|NM_001278510,p.R576W	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ejl.1	nonsynonymous SNV	exon6	c.C1726T	p.R576W	KPYKCSECGKGFRRNSDLHSHQRVH	KPYKCSECGKGFWRNSDLHSHQRVH	5.0	4.0	-	-	2556_19:44933212-44933212 G>A_KPYKCSECGKGFWRNSDLHSHQRVH
11:113816638-113816638 G>A	0.0	2556	MELANOMA	-	-	-	-	HTR3B	uc001pol.3,p.G358R|uc001pok.3,p.G369R|ENST00000260191,p.G369R|ENST00000537778,p.G358R|NM_006028,p.G369R	protein_coding	uc001pol.3	nonsynonymous SNV	exon8	c.G1072A	p.G358R	AQRAVVTESSLYGEHLAQPGTLKEV	AQRAVVTESSLYREHLAQPGTLKEV	1.0	3.0	unscreened	-	2556_11:113816638-113816638 G>A_AQRAVVTESSLYREHLAQPGTLKEV
5:147029942-147029942 G>A	0.0	2556	MELANOMA	-	-	ID=COSM1696498;OCCURENCE=1(skin)	-	JAKMIP2	uc003loq.2,p.P266S|NM_014790,p.P266S|NM_001282282,p.P224S|uc011dbx.2,p.P224S|NM_001270941,p.P266S|ENST00000333010,p.P224S|uc010jgo.2,p.P266S|ENST00000507386,p.P266S|ENST00000265272,p.P266S|uc003lor.2,p.P266S|NM_001270934,p.P266S	retained_intron, protein_coding	uc011dbx.2	nonsynonymous SNV	exon3	c.C670T	p.P224S	AECNMSSPKREIPGRAGDGSEHCSS	AECNMSSPKREISGRAGDGSEHCSS	6.0	7.0	-	-	2556_5:147029942-147029942 G>A_AECNMSSPKREISGRAGDGSEHCSS
16:15829260-15829260 C>T	0.0	2556	MELANOMA	-	-	-	1	MYH11	uc010bvg.3,p.D989N|NM_022844,p.D1157N|NM_001040113,p.D1164N|uc002ddv.3,p.D1164N|uc002ddx.3,p.D1164N|ENST00000452625,p.D1164N|ENST00000338282,p.D1157N|uc002ddy.3,p.D1157N|uc002ddw.3,p.D1157N|NM_002474,p.D1157N|ENST00000396324,p.D1164N|ENST00000300036,p.D1157N|ENST00000576790,p.D1157N|NM_001040114,p.D1164N	retained_intron, protein_coding, processed_transcript	uc010bvg.3	nonsynonymous SNV	exon27	c.G2965A	p.D989N	GEELEALKTELEDTLDSTATQQELR	GEELEALKTELENTLDSTATQQELR	1.0	7.0	-	-	2556_16:15829260-15829260 C>T_GEELEALKTELENTLDSTATQQELR
2:31133871-31133871 C>T	0.0	2556	MELANOMA	-	-	ID=COSM1690384;OCCURENCE=1(skin)	-	GALNT14	uc002rnq.3,p.D499N|NM_024572,p.D519N|NM_001253827,p.D499N|uc010ymr.2,p.D484N|uc002rns.3,p.D524N|ENST00000349752,p.D519N|ENST00000420311,p.D484N|ENST00000356174,p.D486N|ENST00000324589,p.D524N|NM_001253826,p.D524N|uc002rnr.3,p.D519N|ENST00000406653,p.D499N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ymr.2	nonsynonymous SNV	exon16	c.G1450A	p.D484N	SHIEHIASHLCLDTDMFGDGTENGK	SHIEHIASHLCLNTDMFGDGTENGK	2.0	6.0	-	-	2556_2:31133871-31133871 C>T_SHIEHIASHLCLNTDMFGDGTENGK
3:54958862-54958862 A>T	0.0	2556	MELANOMA	-	-	-	-	LRTM1	ENST00000493075,p.S54T|ENST00000273286,p.S130T|NM_020678,p.S130T|uc003dhl.3,p.S130T	protein_coding	uc003dhl.3	nonsynonymous SNV	exon2	c.T388A	p.S130T	FHSLPQLRELDLSSNNISHLPTSLG	FHSLPQLRELDLTSNNISHLPTSLG	1.0	6.0	unscreened	-	2556_3:54958862-54958862 A>T_FHSLPQLRELDLTSNNISHLPTSLG
19:52794133-52794133 T>-	0.0	2556	MELANOMA	-	-	-	-	ZNF766	ENST00000593612,p.A378fs|ENST00000359102,p.A378fs|NM_001010851,p.A363fs|uc002pyr.1,p.A363fs|uc002pyt.1,p.A378fs|ENST00000439461,p.A363fs	retained_intron, protein_coding	uc002pyt.1	frameshift deletion	exon5	c.1134delT	p.A378fs	GEKPYKCKECDKAFRHKFSLTVHQR	GEKPYKCKECDKALGTSSP	7.0	4.0	unscreened	-	2556_19:52794133-52794133 T>-_GEKPYKCKECDKALGTSSP
1:160254878-160254878 C>T	1.0	2556	MELANOMA	-	-	-	-	PEX19	uc001fvs.2,p.E13K|NM_002857,p.E13K|NM_001193644,p.E13K|uc021pbq.1,p.E13K|ENST00000368072,p.E13K|ENST00000532643,p.E13K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pbq.1	nonsynonymous SNV	exon1	c.G37A	p.E13K	MAAAEEGCSVGAEADRELEELLESA	MAAAEEGCSVGAKADRELEELLESA	10.0	5.0	-	-	2556_1:160254878-160254878 C>T_MAAAEEGCSVGAKADRELEELLESA
X:3240043-3240043 C>T	0.0	2556	MELANOMA	-	-	-	-	MXRA5	NM_015419,p.G1228E|ENST00000217939,p.G1228E|uc004crg.4,p.G1228E	protein_coding	uc004crg.4	nonsynonymous SNV	exon5	c.G3683A	p.G1228E	LEMEKNAEPTSKGTPRRKHGKRPNK	LEMEKNAEPTSKETPRRKHGKRPNK	5.0	3.0	unscreened	-	2556_X:3240043-3240043 C>T_LEMEKNAEPTSKETPRRKHGKRPNK
11:121416033-121416033 C>T	0.0	2556	MELANOMA	-	-	-	-	SORL1	ENST00000260197,p.T649I|uc001pxx.3,p.T649I|NM_003105,p.T649I	retained_intron, protein_coding, processed_transcript	uc001pxx.3	nonsynonymous SNV	exon14	c.C1946T	p.T649I	DERGNECLLGHKTVFKRRTPHATCF	DERGNECLLGHKIVFKRRTPHATCF	5.0	4.0	-	-	2556_11:121416033-121416033 C>T_DERGNECLLGHKIVFKRRTPHATCF
2:242756240-242756240 G>A	0.0	2556	MELANOMA	-	-	-	-	NEU4	NM_001167600,p.G118E|uc002wcm.3,p.G118E|uc002wcn.2,p.G130E|NM_080741,p.G130E|NM_001167599,p.G131E|NM_001167602,p.G118E|ENST00000435855,p.G118E|ENST00000423583,p.G118E|ENST00000420288,p.G118E|uc002wco.2,p.G118E|ENST00000405370,p.G118E|ENST00000404257,p.G130E|ENST00000325935,p.G131E|ENST00000407683,p.G118E|NM_001167601,p.G118E|ENST00000391969,p.G118E|uc002wcp.2,p.G131E|uc010fzr.3,p.G118E	retained_intron, protein_coding, nonsense_mediated_decay	uc010fzr.3	nonsynonymous SNV	exon3	c.G353A	p.G118E	LGHTPEAVQIATGRNAARLCCVASR	LGHTPEAVQIATERNAARLCCVASR	1.0	6.0	unscreened	-	2556_2:242756240-242756240 G>A_LGHTPEAVQIATERNAARLCCVASR
8:119391784-119391784 G>A	0.0	2556	MELANOMA	-	-	-	-	SAMD12	NM_207506,p.P160S|ENST00000314727,p.P160S|uc003yom.2,p.P160S	protein_coding, processed_transcript, nonsense_mediated_decay	uc003yom.2	nonsynonymous SNV	exon4	c.C478T	p.P160S	NLQLLTQGTLLLPDGWMDGEIRRKT	NLQLLTQGTLLLSDGWMDGEIRRKT	3.0	7.0	unscreened	-	2556_8:119391784-119391784 G>A_NLQLLTQGTLLLSDGWMDGEIRRKT
3:121591404-121591404 C>G	1.0	2556	MELANOMA	-	-	ID=COSM4157173;OCCURENCE=1(thyroid)	-	EAF2	NM_018456,p.L169V|uc003eeo.3,p.L39V|ENST00000273668,p.L169V|uc003een.3,p.L169V|ENST00000451944,p.L169V	protein_coding, processed_transcript, nonsense_mediated_decay	uc003eeo.3	nonsynonymous SNV	exon4	c.C115G	p.L39V	DDIERELKAEASLMDQMSSCDSSSD	DDIERELKAEASVMDQMSSCDSSSD	5.0	6.0	-	-	2556_3:121591404-121591404 C>G_DDIERELKAEASVMDQMSSCDSSSD
6:55925730-55925730 C>T	0.0	2556	MELANOMA	-	-	-	-	COL21A1	uc011dxh.3,p.D171N|ENST00000535941,p.D771N|ENST00000370819,p.D768N|uc010jzz.3,p.D156N|uc011dxg.2,p.D144N|NM_030820,p.D771N|uc003pcs.3,p.D771N|uc003pcr.3,p.D128N|ENST00000370808,p.D171N|ENST00000244728,p.D771N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxh.3	nonsynonymous SNV	exon13	c.G511A	p.D171N	LMGPAGPKGQPGDPGPQGPPGLDGK	LMGPAGPKGQPGNPGPQGPPGLDGK	1.0	5.0	unscreened	-	2556_6:55925730-55925730 C>T_LMGPAGPKGQPGNPGPQGPPGLDGK
6:25921263-25921263 C>T	0.0	2556	MELANOMA	0.0009	-	-	-	SLC17A2	NM_001286125,p.R178Q|ENST00000377850,p.R178Q|ENST00000360488,p.R178Q|NM_005835,p.R178Q|ENST00000265425,p.R178Q|uc011dkb.2,p.R178Q|uc011dkc.2,p.R178Q|NM_001286123,p.R178Q|uc003nfl.3,p.R178Q	protein_coding	uc011dkc.2	nonsynonymous SNV	exon4	c.G533A	p.R178Q	FTIWAKWAPPLERSKLTTIAGSGSA	FTIWAKWAPPLEQSKLTTIAGSGSA	1.0	3.0	unscreened	-	2556_6:25921263-25921263 C>T_FTIWAKWAPPLEQSKLTTIAGSGSA
1:152283097-152283097 C>T	1.0	2556	MELANOMA	-	-	-	-	FLG	uc001ezu.1,p.S1422N|ENST00000368799,p.S1422N|NM_002016,p.S1422N	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.G4265A	p.S1422N	VSAHGQAGPHQQSHKESARGQSGES	VSAHGQAGPHQQNHKESARGQSGES	1.0	7.0	-	-	2556_1:152283097-152283097 C>T_VSAHGQAGPHQQNHKESARGQSGES
8:110437354-110437354 G>A	0.0	2556	MELANOMA	-	-	-	-	PKHD1L1	NM_177531,p.G913E|ENST00000378402,p.G913E|uc003yne.3,p.G913E	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon24	c.G2738A	p.G913E	ITHETENEFVYRGNNWPGESKIHIQ	ITHETENEFVYRENNWPGESKIHIQ	1.0	7.0	unscreened	-	2556_8:110437354-110437354 G>A_ITHETENEFVYRENNWPGESKIHIQ
17:48272839-48272839 C>T	0.0	2556	MELANOMA	-	-	-	1	COL1A1	ENST00000225964,p.G386R|NM_000088,p.G386R|uc002iqm.3,p.G386R	retained_intron, protein_coding	uc002iqm.3	nonsynonymous SNV	exon18	c.G1156A	p.G386R	GPPGPAGAAGPAGNPGADGQPGAKG	GPPGPAGAAGPARNPGADGQPGAKG	8.0	5.0	-	-	2556_17:48272839-48272839 C>T_GPPGPAGAAGPARNPGADGQPGAKG
19:53669391-53669391 C>T	1.0	2556	MELANOMA	-	-	-	-	ZNF665	uc010eqm.1,p.E118K|NM_024733,p.E118K|ENST00000600412,p.E53K|ENST00000396424,p.E118K	protein_coding, processed_transcript	uc010eqm.1	nonsynonymous SNV	exon4	c.G352A	p.E118K	EGNYKTVLMLQKENLPGRRAQRDRR	EGNYKTVLMLQKKNLPGRRAQRDRR	5.0	4.0	-	-	2556_19:53669391-53669391 C>T_EGNYKTVLMLQKKNLPGRRAQRDRR
4:96762304-96762304 G>A	0.0	2556	MELANOMA	-	-	ID=COSM1633858;OCCURENCE=1(liver)	-	PDHA2	ENST00000295266,p.E335K|NM_005390,p.E335K|uc003htr.4,p.E335K	protein_coding	uc003htr.4	nonsynonymous SNV	exon1	c.G1003A	p.E335K	VNSKLATVEELKEIGAEVRKEIDDA	VNSKLATVEELKKIGAEVRKEIDDA	1.0	5.0	-	-	2556_4:96762304-96762304 G>A_VNSKLATVEELKKIGAEVRKEIDDA
10:54530441-54530441 C>T	0.0	2556	MELANOMA	-	-	-	-	MBL2	uc001jjt.3,p.G98E|ENST00000373968,p.G98E|NM_000242,p.G98E	protein_coding, processed_transcript	uc001jjt.3	nonsynonymous SNV	exon2	c.G293A	p.G98E	GSPGPKGQKGDPGKSPDGDSSLAAS	GSPGPKGQKGDPEKSPDGDSSLAAS	2.0	3.0	unscreened	-	2556_10:54530441-54530441 C>T_GSPGPKGQKGDPEKSPDGDSSLAAS
4:91549285-91549285 G>A	0.0	2556	MELANOMA	-	-	-	-	CCSER1	NM_207491,p.E612K|ENST00000432775,p.E612K|uc003hsv.4,p.E612K|NM_001145065,p.E612K|ENST00000333691,p.E612K|ENST00000509176,p.E612K|uc003hsw.3,p.E612K|ENST00000505073,p.E612K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003hsw.3	nonsynonymous SNV	exon6	c.G1834A	p.E612K	SPSADWPLQGVEENGGIDSLPFRLM	SPSADWPLQGVEKNGGIDSLPFRLM	4.0	4.0	-	-	2556_4:91549285-91549285 G>A_SPSADWPLQGVEKNGGIDSLPFRLM
17:48638824-48638824 G>A	0.0	2556	MELANOMA	-	-	-	-	CACNA1G	NM_198388,p.D2N|NM_001256326,p.D2N|ENST00000503607,p.D2N|NM_198387,p.D2N|NM_198376,p.D2N|uc002irw.2,p.D2N|NM_001256359,p.D2N|ENST00000502264,p.D2N|uc002isi.2,p.D2N|NM_001256324,p.D2N|ENST00000515165,p.D2N|ENST00000515765,p.D2N|ENST00000358244,p.D2N|NM_001256327,p.D2N|ENST00000359106,p.D2N|ENST00000507336,p.D2N|ENST00000360761,p.D2N|uc002irj.2,p.D2N|NM_198380,p.D2N|ENST00000513689,p.D2N|ENST00000507896,p.D2N|ENST00000515411,p.D2N|NM_001256330,p.D2N|NM_001256332,p.D2N|ENST00000513964,p.D2N|uc002irv.2,p.D2N|NM_001256331,p.D2N|uc002irp.2,p.D2N|ENST00000506406,p.D2N|uc002irx.2,p.D2N|ENST00000511768,p.D2N|ENST00000511765,p.D2N|NM_198385,p.D2N|uc002isf.2,p.D2N|NM_001256325,p.D2N|ENST00000354983,p.D2N|ENST00000504076,p.D2N|uc002iru.2,p.D2N|uc002irn.2,p.D2N|uc002isb.2,p.D2N|uc002isc.2,p.D2N|ENST00000507510,p.D2N|NM_001256333,p.D2N|uc002irm.2,p.D2N|NM_198396,p.D2N|uc002irk.2,p.D2N|uc002ise.2,p.D2N|uc002isd.2,p.D2N|ENST00000512389,p.D2N|ENST00000503485,p.D2N|ENST00000442258,p.D2N|uc002irr.2,p.D2N|ENST00000514717,p.D2N|ENST00000505165,p.D2N|ENST00000416767,p.D2N|uc002irt.2,p.D2N|uc002isa.2,p.D2N|NM_018896,p.D2N|ENST00000514181,p.D2N|NM_198378,p.D2N|NM_198384,p.D2N|ENST00000510366,p.D2N|uc002isg.2,p.D2N|NM_198379,p.D2N|NM_001256360,p.D2N|uc002iry.2,p.D2N|NM_001256361,p.D2N|NM_001256329,p.D2N|NM_001256328,p.D2N|ENST00000507609,p.D2N|uc002irs.2,p.D2N|NM_198386,p.D2N|uc002irl.2,p.D2N|uc002irz.2,p.D2N|ENST00000352832,p.D2N|NM_198382,p.D2N|uc002ish.2,p.D2N|ENST00000429973,p.D2N|ENST00000503436,p.D2N|NM_198383,p.D2N|uc002iro.2,p.D2N|ENST00000514079,p.D2N|NM_001256334,p.D2N|ENST00000510115,p.D2N|NM_198377,p.D2N	protein_coding, nonsense_mediated_decay	uc002isi.2	nonsynonymous SNV	exon1	c.G4A	p.D2N	MDEEEDGAGAEESG	MNEEEDGAGAEESG	1.0	7.0	unscreened	-	2556_17:48638824-48638824 G>A_MNEEEDGAGAEESG
1:152285630-152285630 C>T	0.0	2556	MELANOMA	-	-	-	-	FLG	ENST00000368799,p.G578R|NM_002016,p.G578R|uc001ezu.1,p.G578R	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.G1732A	p.G578R	SASRQTRNEEQSGDGTRHSGSRHHE	SASRQTRNEEQSRDGTRHSGSRHHE	1.0	5.0	-	-	2556_1:152285630-152285630 C>T_SASRQTRNEEQSRDGTRHSGSRHHE
1:33959982-33959982 C>T	1.0	2556	MELANOMA	-	-	-	-	ZSCAN20	uc001bxj.4,p.P680S|ENST00000361328,p.P680S|NM_145238,p.P680S|uc009vui.3,p.P679S	protein_coding, processed_transcript	uc009vui.3	nonsynonymous SNV	exon8	c.C2035T	p.P679S	ENENEDEGQWGNPSQEQWQESSSEE	ENENEDEGQWGNSSQEQWQESSSEE	5.0	4.0	-	-	2556_1:33959982-33959982 C>T_ENENEDEGQWGNSSQEQWQESSSEE
12:21682018-21682018 G>A	0.0	2556	MELANOMA	-	-	-	-	SPX	NM_030572,p.D98N|ENST00000256969,p.D98N|uc001rfa.1,p.D98N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rfa.1	nonsynonymous SNV	exon5	c.G292A	p.D98N	TILLASLQKSPEDEEKNFDQTRFLE	TILLASLQKSPENEEKNFDQTRFLE	4.0	3.0	-	-	2556_12:21682018-21682018 G>A_TILLASLQKSPENEEKNFDQTRFLE
10:21414831-21414831 C>T	0.0	2556	MELANOMA	-	-	-	-	C10orf113	ENST00000377118,p.G120E|uc001iqm.3,p.G130E|ENST00000534331,p.G130E|NM_001010896,p.G130E	protein_coding	uc001iqm.3	nonsynonymous SNV	exon2	c.G389A	p.G130E	PRLSLGPEGITKGKHGFKFQGIKEK	PRLSLGPEGITKEKHGFKFQGIKEK	1.0	5.0	unscreened	-	2556_10:21414831-21414831 C>T_PRLSLGPEGITKEKHGFKFQGIKEK
13:20796929-20796929 G>A	0.0	2556	MELANOMA	-	-	-	-	GJB6	NM_006783,p.H231Y|NM_001110220,p.H231Y|uc001una.4,p.H231Y|uc001unb.4,p.H231Y|ENST00000400065,p.H231Y|uc001unc.4,p.H231Y|ENST00000356192,p.H231Y|NM_001110221,p.H231Y|ENST00000241124,p.H231Y|uc001umz.4,p.H231Y|NM_001110219,p.H231Y|uc021rhb.1,p.H231Y|ENST00000400066,p.H231Y|uc001und.4,p.H231Y	protein_coding	uc021rhb.1	nonsynonymous SNV	exon1	c.C691T	p.H231Y	FRRSKRAQTQKNHPNHALKESKQNE	FRRSKRAQTQKNYPNHALKESKQNE	1.0	6.0	unscreened	-	2556_13:20796929-20796929 G>A_FRRSKRAQTQKNYPNHALKESKQNE
8:27767219-27767219 C>T	0.0	2556	MELANOMA	-	-	-	-	SCARA5	ENST00000524352,p.E320K|ENST00000380385,p.E95K|uc003xgk.3,p.E277K|ENST00000354914,p.E320K|ENST00000518030,p.E277K|NM_173833,p.E320K|uc003xgl.3,p.E320K|ENST00000301906,p.E277K|uc003xgj.3,p.E320K|uc010luz.3,p.E95K	protein_coding	uc010luz.3	nonsynonymous SNV	exon4	c.G283A	p.E95K	PGPKGDQGDEGKEGRPGIPGLPGLR	PGPKGDQGDEGKKGRPGIPGLPGLR	4.0	5.0	unscreened	-	2556_8:27767219-27767219 C>T_PGPKGDQGDEGKKGRPGIPGLPGLR
1:152285248-152285248 C>T	0.0	2556	MELANOMA	-	-	-	-	FLG	uc001ezu.1,p.G705E|NM_002016,p.G705E|ENST00000368799,p.G705E	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.G2114A	p.G705E	AASSHEQARSSAGERHGSRHQLQSA	AASSHEQARSSAEERHGSRHQLQSA	1.0	4.0	-	-	2556_1:152285248-152285248 C>T_AASSHEQARSSAEERHGSRHQLQSA
3:107097059-107097059 G>A	0.0	2556	MELANOMA	-	-	-	-	CCDC54	NM_032600,p.E209K|uc003dwi.1,p.E209K|ENST00000261058,p.E209K	protein_coding	uc003dwi.1	nonsynonymous SNV	exon1	c.G625A	p.E209K	KVPSYPKSTDHLEKKTISPQMKTLK	KVPSYPKSTDHLKKKTISPQMKTLK	1.0	4.0	unscreened	-	2556_3:107097059-107097059 G>A_KVPSYPKSTDHLKKKTISPQMKTLK
19:7570856-7570856 C>T	0.0	2556	MELANOMA	-	-	-	-	C19orf45	NM_198534,p.P338S|ENST00000361664,p.P338S|uc002mgm.2,p.P338S	retained_intron, protein_coding, nonsense_mediated_decay	uc002mgm.2	nonsynonymous SNV	exon7	c.C1012T	p.P338S	DTFMQYFYGQPPPPTQPPSRHVPHE	DTFMQYFYGQPPSPTQPPSRHVPHE	1.0	5.0	unscreened	-	2556_19:7570856-7570856 C>T_DTFMQYFYGQPPSPTQPPSRHVPHE
4:71509952-71509952 G>A	0.0	2556	MELANOMA	-	-	-	-	ENAM	NM_031889,p.E937K|uc011caw.1,p.E937K|ENST00000396073,p.E937K	retained_intron, protein_coding, processed_transcript	uc011caw.1	nonsynonymous SNV	exon9	c.G2809A	p.E937K	PTSILPGQRNSSEKRESQNPFRDDV	PTSILPGQRNSSKKRESQNPFRDDV	1.0	4.0	unscreened	-	2556_4:71509952-71509952 G>A_PTSILPGQRNSSKKRESQNPFRDDV
X:49597197-49597197 C>T	0.0	2556	MELANOMA	-	-	-	-	PAGE4	uc004don.1,p.S79F|ENST00000376141,p.S79F|NM_007003,p.S79F|ENST00000218068,p.S79F	protein_coding, processed_transcript	uc004don.1	nonsynonymous SNV	exon4	c.C236T	p.S79F	DLEKTRSERGDGSDVKEKTPPNPKH	DLEKTRSERGDGFDVKEKTPPNPKH	1.0	5.0	unscreened	-	2556_X:49597197-49597197 C>T_DLEKTRSERGDGFDVKEKTPPNPKH
X:70146842-70146842 C>T	0.0	2556	MELANOMA	-	-	-	-	SLC7A3	NM_032803,p.E446K|uc004dyn.3,p.E446K|NM_001048164,p.E446K|ENST00000298085,p.E446K|ENST00000374299,p.E446K|uc004dyo.3,p.E446K	protein_coding	uc004dyo.3	nonsynonymous SNV	exon9	c.G1336A	p.E446K	QETKTGEEVELQEEAITTESEKLTL	QETKTGEEVELQKEAITTESEKLTL	1.0	5.0	unscreened	-	2556_X:70146842-70146842 C>T_QETKTGEEVELQKEAITTESEKLTL
1:51767919-51767919 C>T	0.0	2556	MELANOMA	-	-	-	-	TTC39A	uc001cso.1,p.G366E|ENST00000262676,p.G366E	protein_coding, processed_transcript	uc001cso.1	nonsynonymous SNV	exon11	c.G1097A	p.G366E	CDILRDRIDWGRGGGQERTNQRAGA	CDILRDRIDWGREGGQERTNQRAGA	3.0	5.0	-	-	2556_1:51767919-51767919 C>T_CDILRDRIDWGREGGQERTNQRAGA
19:36592195-36592195 C>T	1.0	2556	MELANOMA	-	-	-	-	WDR62	ENST00000270301,p.P983S|uc002odc.2,p.P983S|NM_001083961,p.P983S|ENST00000401500,p.P983S|NM_173636,p.P983S|uc002odd.2,p.P983S	protein_coding, processed_transcript, nonsense_mediated_decay	uc002odd.2	nonsynonymous SNV	exon24	c.C2947T	p.P983S	QGDSYLRVSSDSPKDQSPPEDSGES	QGDSYLRVSSDSSKDQSPPEDSGES	6.0	4.0	-	-	2556_19:36592195-36592195 C>T_QGDSYLRVSSDSSKDQSPPEDSGES
2:182403913-182403913 G>A	0.0	2556	MELANOMA	-	-	-	-	CERKL	uc021vti.1,p.P230S|uc021vtj.1,p.P185S|uc021vtk.1,p.P230S|uc002unw.3,p.P78S|uc002unz.3,p.P230S|ENST00000374970,p.P413S|uc021vth.1,p.P277S|NM_001030313,p.P413S|uc002uny.3,p.P482S|uc021vtm.2,p.P277S|uc010zfm.2,p.P464S|uc002uoc.3,p.P369S|NM_001030312,p.P369S|uc002uod.3,p.P277S|NM_201548,p.P482S|uc002uoa.3,p.P413S|ENST00000339098,p.P508S|ENST00000410087,p.P482S|ENST00000409440,p.P464S|uc021vtl.1,p.P185S|NM_001160277,p.P464S|uc002unx.3,p.P508S|uc010frk.4,p.P174S|ENST00000374969,p.P369S|NM_001030311,p.P508S|uc002uob.3,p.P230S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vtm.2	nonsynonymous SNV	exon13	c.C829T	p.P277S	KVHPRNNTGGYNPEEEEDETASENC	KVHPRNNTGGYNSEEEEDETASENC	3.0	6.0	-	-	2556_2:182403913-182403913 G>A_KVHPRNNTGGYNSEEEEDETASENC
19:33312084-33312084 C>T	0.0	2556	MELANOMA	-	-	-	-	TDRD12,SLC7A9	uc002ntq.2,p.R1177C|ENST00000444215,p.R1177C	protein_coding, nonsense_mediated_decay	uc002ntq.2	nonsynonymous SNV	exon28	c.C3529T	p.R1177C	GYLVFKRWLSSNR	GYLVFKRWLSSNC	1.0	4.0	unscreened	-	2556_19:33312084-33312084 C>T_GYLVFKRWLSSNC
11:65061637-65061637 C>T	1.0	2591	MELANOMA	-	-	-	-	POLA2	uc001odj.3,p.L420F|NM_002689,p.L420F|ENST00000265465,p.L420F|uc010rod.1,p.L212F|uc001odk.3,p.L117F|ENST00000541089,p.L212F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rod.1	nonsynonymous SNV	exon13	c.C634T	p.L212F	TIIEGTRSSGSHLVFVPSLRDVHHE	TIIEGTRSSGSHFVFVPSLRDVHHE	9.0	6.0	CD8	-	2591_11:65061637-65061637 C>T_TIIEGTRSSGSHFVFVPSLRDVHHE
17:79660569-79660569 ->C	1.0	2591	MELANOMA	-	-	-	-	HGS	uc002kbg.3,p.L233fs|ENST00000329138,p.L233fs|NM_004712,p.L233fs	retained_intron, protein_coding, nonsense_mediated_decay	uc002kbg.3	frameshift insertion	exon9	c.700dupC	p.L233fs	RKAEGKATSTTELPPEYLTSPLSQQ	RKAEGKATSTTELPPRVPDQPPVSAVPAAPQEGRDGPAGGGGAAAGPGAVTVRGGGEGEAETEVHVHFVPQGGAHALGLLSAPRQQPVLFTCELVGASG	9.0	4.0	unscreened	-	2591_17:79660569-79660569 ->C_RKAEGKATSTTELPPRVPDQPPVSAVPAAPQEGRDGPAGGGGAAAGPGAVTVRGGGEGEAETEVHVHFVPQGGAHALGLLSAPRQQPVLFTCELVGASG
12:123082472-123082472 G>A	1.0	2591	MELANOMA	-	-	-	-	KNTC1	NM_014708,p.G1517E|uc001ucv.3,p.G1517E|ENST00000333479,p.G1517E|ENST00000423927,p.G76E	retained_intron, protein_coding, processed_transcript	uc001ucv.3	nonsynonymous SNV	exon44	c.G4550A	p.G1517E	LTSTKDLVISLSGILHKLDPYDYEM	LTSTKDLVISLSEILHKLDPYDYEM	7.0	6.0	-	-	2591_12:123082472-123082472 G>A_LTSTKDLVISLSEILHKLDPYDYEM
11:18322419-18322419 A>T	1.0	2591	MELANOMA	-	-	-	-	HPS5	uc001moe.1,p.F200Y|ENST00000438420,p.F200Y|ENST00000349215,p.F314Y|NM_181507,p.F314Y|NM_007216,p.F200Y|uc001mod.1,p.F314Y|uc001mof.1,p.F200Y|ENST00000531848,p.F200Y|ENST00000396253,p.F200Y|NM_181508,p.F200Y	retained_intron, protein_coding, processed_transcript	uc001mof.1	nonsynonymous SNV	exon8	c.T599A	p.F200Y	CVLTWTERGIYIFIPQNVQVLLWSE	CVLTWTERGIYIYIPQNVQVLLWSE	7.0	7.0	unscreened	-	2591_11:18322419-18322419 A>T_CVLTWTERGIYIYIPQNVQVLLWSE
2:216251523-216251523 G>A	1.0	2591	MELANOMA	-	-	-	-	FN1	ENST00000354785,p.R1501W|ENST00000456923,p.R217W|NM_002026,p.R1410W|uc010zjp.2,p.R128W|ENST00000359671,p.R1410W|NM_212476,p.R1410W|ENST00000357867,p.R1410W|uc002vfb.3,p.R1410W|ENST00000345488,p.R1410W|ENST00000446046,p.R1410W|ENST00000421182,p.R1410W|ENST00000357009,p.R1410W|uc002vfi.3,p.R1501W|uc002vfe.3,p.R1410W|NM_212482,p.R1501W|NM_212474,p.R1410W|uc002vfa.3,p.R1501W|NM_212478,p.R1410W|ENST00000443816,p.R1410W|uc002vfc.3,p.R1410W|uc002vfg.3,p.R1410W|uc002vfh.3,p.R1410W|uc002vfj.3,p.R1501W|uc002vff.3,p.R1410W|ENST00000336916,p.R1410W|ENST00000323926,p.R1501W|ENST00000356005,p.R1410W|ENST00000432072,p.R1501W|ENST00000346544,p.R1410W	retained_intron, protein_coding, processed_transcript	uc010zjp.2	nonsynonymous SNV	exon4	c.C382T	p.R128W	SGRPREDRVPHSRNSITLTNLTPGT	SGRPREDRVPHSWNSITLTNLTPGT	10.0	4.0	-	-	2591_2:216251523-216251523 G>A_SGRPREDRVPHSWNSITLTNLTPGT
14:75266025-75266025 C>T	1.0	2591	MELANOMA	-	-	-	-	YLPM1	ENST00000238571,p.P1147L|NM_019589,p.P1342L|ENST00000549293,p.P895L|ENST00000325680,p.P1342L|uc001xqj.4,p.P1342L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xqj.4	nonsynonymous SNV	exon5	c.C4025T	p.P1342L	SLPPLPPLPPLPPLDRYRDDRWREE	SLPPLPPLPPLPLLDRYRDDRWREE	7.0	4.0	-	-	2591_14:75266025-75266025 C>T_SLPPLPPLPPLPLLDRYRDDRWREE
5:137528272-137528272 G>A	1.0	2591	MELANOMA	-	-	-	-	CDC23	uc003lcl.3,p.R363W|NM_004661,p.R363W|ENST00000394886,p.R363W	retained_intron, protein_coding, nonsense_mediated_decay	uc003lcl.3	nonsynonymous SNV	exon10	c.C1087T	p.R363W	ALYFQRALKLNPRYLGAWTLMGHEY	ALYFQRALKLNPWYLGAWTLMGHEY	6.0	10.0	-	-	2591_5:137528272-137528272 G>A_ALYFQRALKLNPWYLGAWTLMGHEY
4:79800010-79800010 A>G	1.0	2591	MELANOMA	-	-	-	-	BMP2K	NM_017593,p.E639G|ENST00000502871,p.E639G|uc003hll.3,p.E103G|uc003hlj.3,p.E639G	retained_intron, protein_coding, nonsense_mediated_decay	uc003hll.3	nonsynonymous SNV	exon2	c.A308G	p.E103G	FGEDNFSKLTEEELLDREFDLLRSS	FGEDNFSKLTEEGLLDREFDLLRSS	6.0	6.0	-	-	2591_4:79800010-79800010 A>G_FGEDNFSKLTEEGLLDREFDLLRSS
4:79800010-79800010 A>G	1.0	2591	MELANOMA	-	-	-	-	BMP2K	NM_198892,p.E639G|ENST00000335016,p.E639G|uc003hlk.3,p.E639G	retained_intron, protein_coding, nonsense_mediated_decay	uc003hlk.3	nonsynonymous SNV	exon14	c.A1916G	p.E639G	FGEDNFSKLTEEELLDREFDLLRSN	FGEDNFSKLTEEGLLDREFDLLRSN	6.0	6.0	unscreened	-	2591_4:79800010-79800010 A>G_FGEDNFSKLTEEGLLDREFDLLRSN
16:2257202-2257202 C>T	1.0	2591	MELANOMA	-	-	-	-	MLST8	ENST00000563107,p.S118L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000563107	nonsynonymous SNV	exon5	c.C353T	p.S118L	DCTARIWDLRQSSSWVTRAGLSTSG	DCTARIWDLRQSLSWVTRAGLSTSG	10.0	3.0	unscreened	-	2591_16:2257202-2257202 C>T_DCTARIWDLRQSLSWVTRAGLSTSG
2:101611938-101611938 C>T	1.0	2591	MELANOMA	-	-	-	-	NPAS2	ENST00000335681,p.T790I|NM_002518,p.T790I|uc002tap.1,p.T790I|uc010yvt.1,p.T855I|ENST00000542504,p.T855I	retained_intron, protein_coding, processed_transcript	uc010yvt.1	nonsynonymous SNV	exon21	c.C2564T	p.T855I	SLLLSTYSQQPGTLGYPQPPPAQPQ	SLLLSTYSQQPGILGYPQPPPAQPQ	9.0	10.0	-	-	2591_2:101611938-101611938 C>T_SLLLSTYSQQPGILGYPQPPPAQPQ
2:32740719-32740719 C>T	1.0	2591	MELANOMA	-	-	-	2	BIRC6	uc010ezu.3,p.S3744F|NM_016252,p.S3744F|ENST00000421745,p.S3744F	retained_intron, protein_coding, nonsense_mediated_decay	uc010ezu.3	nonsynonymous SNV	exon55	c.C11231T	p.S3744F	GAQQTSARSASLSSAATTGLTTQQR	GAQQTSARSASLFSAATTGLTTQQR	7.0	4.0	unscreened	-	2591_2:32740719-32740719 C>T_GAQQTSARSASLFSAATTGLTTQQR
2:32730200-32730200 C>T	1.0	2591	MELANOMA	-	-	-	2	BIRC6	uc010ezu.3,p.L3210F|ENST00000421745,p.L3210F|NM_016252,p.L3210F	retained_intron, protein_coding, nonsense_mediated_decay	uc010ezu.3	nonsynonymous SNV	exon50	c.C9628T	p.L3210F	SYIFLPEEAWCDLTIHLPAAVLLKE	SYIFLPEEAWCDFTIHLPAAVLLKE	7.0	9.0	-	-	2591_2:32730200-32730200 C>T_SYIFLPEEAWCDFTIHLPAAVLLKE
21:38516874-38516874 C>T	1.0	2591	MELANOMA	-	-	-	-	TTC3	ENST00000540756,p.R298C|uc002ywc.3,p.R298C|uc010gnf.3,p.R373C|uc011aed.1,p.R298C|uc002yvz.3,p.R608C|uc010gne.1,p.R608C|ENST00000438055,p.R590C|NM_001001894,p.R608C|uc002ywa.3,p.R608C|NM_003316,p.R608C|ENST00000450533,p.R608C|ENST00000399017,p.R608C|ENST00000418766,p.R608C|ENST00000355666,p.R608C|uc011aee.1,p.R298C|uc002ywb.3,p.R608C|ENST00000354749,p.R608C	retained_intron, protein_coding, processed_transcript	uc011aee.1	nonsynonymous SNV	exon13	c.C892T	p.R298C	LNHFEKARTLIYRLPGVLTWPTSNV	LNHFEKARTLIYCLPGVLTWPTSNV	9.0	4.0	-	-	2591_21:38516874-38516874 C>T_LNHFEKARTLIYCLPGVLTWPTSNV
6:30671633-30671633 G>A	1.0	2591	MELANOMA	-	-	-	-	MDC1	ENST00000376405,p.P1512L|uc003nrg.4,p.P1776L|ENST00000376406,p.P1776L|NM_014641,p.P1776L|uc011dmp.1,p.P1383L	retained_intron, protein_coding, processed_transcript	uc011dmp.1	nonsynonymous SNV	exon10	c.C4148T	p.P1383L	AESLTAIPEPASPQLLETPIHASQI	AESLTAIPEPASLQLLETPIHASQI	8.0	9.0	-	-	2591_6:30671633-30671633 G>A_AESLTAIPEPASLQLLETPIHASQI
11:18322420-18322420 A>T	1.0	2591	MELANOMA	-	-	-	-	HPS5	ENST00000438420,p.F200I|NM_181507,p.F314I|ENST00000531848,p.F200I|uc001mof.1,p.F200I|ENST00000349215,p.F314I|NM_181508,p.F200I|NM_007216,p.F200I|uc001mod.1,p.F314I|uc001moe.1,p.F200I|ENST00000396253,p.F200I	retained_intron, protein_coding, processed_transcript	uc001mof.1	nonsynonymous SNV	exon8	c.T598A	p.F200I	CVLTWTERGIYIFIPQNVQVLLWSE	CVLTWTERGIYIIIPQNVQVLLWSE	7.0	5.0	unscreened	-	2591_11:18322420-18322420 A>T_CVLTWTERGIYIIIPQNVQVLLWSE
17:45734362-45734362 C>T	1.0	2591	MELANOMA	-	-	-	-	KPNB1	NM_002265,p.P140L|ENST00000290158,p.P140L|uc002ilt.2,p.P140L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ilt.2	nonsynonymous SNV	exon4	c.C419T	p.P140L	ELIPQLVANVTNPNSTEHMKESTLE	ELIPQLVANVTNLNSTEHMKESTLE	10.0	8.0	-	-	2591_17:45734362-45734362 C>T_ELIPQLVANVTNLNSTEHMKESTLE
12:49460023-49460023 G>A	1.0	2591	MELANOMA	-	-	-	-	RHEBL1	ENST00000301068,p.S124F|uc001rtc.1,p.S124F|uc001rtd.1,p.S120F|NM_144593,p.S124F	protein_coding, nonsense_mediated_decay	uc001rtd.1	nonsynonymous SNV	exon6	c.C359T	p.S120F	VPVVLVGNKADLSPEREVQAVEGKK	VPVVLVGNKADLFPEREVQAVEGKK	6.0	3.0	-	-	2591_12:49460023-49460023 G>A_VPVVLVGNKADLFPEREVQAVEGKK
12:8074227-8074227 G>A	0.0	2591	MELANOMA	-	-	-	-	SLC2A3	uc001qtr.3,p.H425Y|NM_006931,p.H425Y|ENST00000075120,p.H425Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001qtr.3	nonsynonymous SNV	exon10	c.C1273T	p.H425Y	NFLVGLLFPSAAHYLGAYVFIIFTG	NFLVGLLFPSAAYYLGAYVFIIFTG	10.0	1.0	unscreened	-	2591_12:8074227-8074227 G>A_NFLVGLLFPSAAYYLGAYVFIIFTG
7:111535738-111535738 G>A	1.0	2591	MELANOMA	-	-	-	-	DOCK4	ENST00000437633,p.S506F|ENST00000428084,p.S506F|uc003vfx.3,p.S506F|NM_014705,p.S506F|uc003vfy.3,p.S506F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vfy.3	nonsynonymous SNV	exon16	c.C1517T	p.S506F	TKEKGEKKLFGFSFVPLMQEDGRTL	TKEKGEKKLFGFFFVPLMQEDGRTL	6.0	8.0	-	-	2591_7:111535738-111535738 G>A_TKEKGEKKLFGFFFVPLMQEDGRTL
1:91973914-91973914 A>G	1.0	2591	MELANOMA	-	-	-	-	CDC7	NM_001134420,p.I99V|uc001doe.3,p.I99V|ENST00000430031,p.I71V|ENST00000428239,p.I99V|ENST00000234626,p.I99V|NM_003503,p.I99V|ENST00000426137,p.I99V|uc001dof.3,p.I99V|uc010osw.2,p.I71V|uc009wdc.3,p.I99V|NM_001134419,p.I99V	protein_coding, processed_transcript	uc010osw.2	nonsynonymous SNV	exon3	c.A211G	p.I71V	IALKHLIPTSHPIRIAAELQCLTVA	IALKHLIPTSHPVRIAAELQCLTVA	5.0	6.0	unscreened	-	2591_1:91973914-91973914 A>G_IALKHLIPTSHPVRIAAELQCLTVA
6:25581495-25581495 C>T	1.0	2591	MELANOMA	-	-	-	-	LRRC16A	uc010jpy.3,p.A945V|NM_017640,p.A945V|uc011djw.2,p.A945V|NM_001173977,p.A945V|ENST00000329474,p.A945V	protein_coding, processed_transcript	uc011djw.2	nonsynonymous SNV	exon31	c.C2834T	p.A945V	SRAFEMEFDLDKALEEVPIHIEDPP	SRAFEMEFDLDKVLEEVPIHIEDPP	6.0	2.0	unscreened	-	2591_6:25581495-25581495 C>T_SRAFEMEFDLDKVLEEVPIHIEDPP
5:150647056-150647056 C>T	1.0	2591	MELANOMA	-	-	-	-	GM2A	uc011dcr.2,p.P139L|NM_001167607,p.P139L	protein_coding	uc011dcr.2	nonsynonymous SNV	exon4	c.C416T	p.P139L	EPLRTYGLPCHCPFSSVLCLPRPNS	EPLRTYGLPCHCLFSSVLCLPRPNS	9.0	10.0	unscreened	-	2591_5:150647056-150647056 C>T_EPLRTYGLPCHCLFSSVLCLPRPNS
7:103841402-103841402 G>T	1.0	2591	MELANOMA	-	-	-	-	ORC5	NM_002553,p.P57Q|ENST00000297431,p.P57Q|ENST00000447452,p.P57Q|NM_181747,p.P57Q|uc003vcc.3,p.P57Q|uc003vcb.3,p.P57Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vcc.3	nonsynonymous SNV	exon3	c.C170A	p.P57Q	YVTQTLLKTLELPHVFVNCVECFTL	YVTQTLLKTLELQHVFVNCVECFTL	8.0	8.0	-	-	2591_7:103841402-103841402 G>T_YVTQTLLKTLELQHVFVNCVECFTL
13:25016762-25016762 G>A	0.0	2591	MELANOMA	-	rs113301501	-	-	PARP4	ENST00000381989,p.T1170I|uc001upl.3,p.T1170I|NM_006437,p.T1170I	retained_intron, protein_coding, processed_transcript	uc001upl.3	nonsynonymous SNV	exon29	c.C3509T	p.T1170I	LIIKLSKENSLITQFTSFVAVEKRD	LIIKLSKENSLIIQFTSFVAVEKRD	8.0	2.0	unscreened	-	2591_13:25016762-25016762 G>A_LIIKLSKENSLIIQFTSFVAVEKRD
15:50897169-50897169 C>T	1.0	2591	MELANOMA	-	-	-	-	TRPM7	NM_017672,p.G961E|ENST00000560955,p.G961E|NM_001301212,p.G961E|uc001zyt.4,p.G961E|uc010bew.2,p.G961E|uc001zyu.3,p.G519E|ENST00000560638,p.G498E|ENST00000313478,p.G961E	retained_intron, protein_coding, processed_transcript	uc010bew.2	nonsynonymous SNV	exon21	c.G2882A	p.G961E	FANAYDNHVFVAGRLIYCLNIIFWY	FANAYDNHVFVAERLIYCLNIIFWY	7.0	10.0	-	-	2591_15:50897169-50897169 C>T_FANAYDNHVFVAERLIYCLNIIFWY
9:96318680-96318680 C>T	1.0	2591	MELANOMA	-	-	-	-	FAM120A	NM_014612,p.P764L|uc004aty.3,p.P545L|ENST00000333936,p.P792L|ENST00000277165,p.P764L|NM_001286722,p.P763L|uc004atw.3,p.P764L|uc004atz.3,p.P413L|ENST00000340893,p.P764L|uc010mrg.3,p.P77L|ENST00000427765,p.P186L	protein_coding, processed_transcript	uc010mrg.3	nonsynonymous SNV	exon4	c.C230T	p.P77L	DQLQELKIENLDPRGIQLSALFMSG	DQLQELKIENLDLRGIQLSALFMSG	9.0	5.0	-	-	2591_9:96318680-96318680 C>T_DQLQELKIENLDLRGIQLSALFMSG
1:236767388-236767388 G>A	1.0	2591	MELANOMA	-	-	-	-	HEATR1	ENST00000366582,p.S3F|uc001hyd.2,p.S3F|ENST00000366579,p.S3F|NM_018072,p.S3F|uc001hye.2,p.S3F|ENST00000366581,p.S3F	protein_coding, processed_transcript	uc001hye.2	nonsynonymous SNV	exon2	c.C8T	p.S3F	MTSLAQQLQRLALPQ	MTFLAQQLQRLALPQ	6.0	10.0	unscreened	-	2591_1:236767388-236767388 G>A_MTFLAQQLQRLALPQ
2:191077765-191077765 T>A	1.0	2591	MELANOMA	-	-	-	-	HIBCH	uc002uru.3,p.T310S|ENST00000392332,p.T310S|uc002urv.3,p.T310S|ENST00000410045,p.T87S|ENST00000409820,p.T90S|ENST00000416732,p.T61S|NM_198047,p.T310S|NM_014362,p.T310S|ENST00000359678,p.T310S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002urv.3	nonsynonymous SNV	exon12	c.A928T	p.T310S	VINKMSPTSLKITLRQLMEGSSKTL	VINKMSPTSLKISLRQLMEGSSKTL	8.0	7.0	-	-	2591_2:191077765-191077765 T>A_VINKMSPTSLKISLRQLMEGSSKTL
8:109240562-109240562 A>C	1.0	2591	MELANOMA	-	-	-	1	EIF3E	uc003ymu.3,p.L219R|NM_001568,p.L219R|ENST00000220849,p.L219R|ENST00000519030,p.L126R|ENST00000519627,p.L92R|uc003ymt.3,p.L170R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ymu.3	nonsynonymous SNV	exon7	c.T656G	p.L219R	SLQQRTWLIHWSLFVFFNHPKGRDN	SLQQRTWLIHWSRFVFFNHPKGRDN	10.0	1.0	-	-	2591_8:109240562-109240562 A>C_SLQQRTWLIHWSRFVFFNHPKGRDN
1:243858913-243858913 A>C	1.0	2591	MELANOMA	-	-	ID=COSM309035;OCCURENCE=1(lung)	2	AKT3	uc001hzz.1,p.L51R|uc001iab.2,p.L51R|NM_001206729,p.L51R|ENST00000552631,p.L51R|ENST00000336199,p.L51R|ENST00000366539,p.L51R|NM_181690,p.L51R|uc021plu.1,p.L51R|ENST00000366540,p.L51R|ENST00000263826,p.L51R|NM_005465,p.L51R	protein_coding, processed_transcript	uc021plu.1	nonsynonymous SNV	exon3	c.T152G	p.L51R	KEKPQDVDLPYPLNNFSVAKCQLMK	KEKPQDVDLPYPRNNFSVAKCQLMK	8.0	5.0	-	-	2591_1:243858913-243858913 A>C_KEKPQDVDLPYPRNNFSVAKCQLMK
9:139366491-139366491 G>T	1.0	2591	MELANOMA	-	-	-	-	SEC16A	uc004chv.4,p.R604S|uc004chx.3,p.R1214S|NM_014866,p.R1214S|ENST00000371706,p.R1036S|uc004chw.3,p.R1214S|ENST00000290037,p.R1036S|ENST00000313050,p.R1214S|ENST00000431893,p.R1036S|NM_001276418,p.R1214S|uc010nbn.3,p.R1214S	protein_coding, processed_transcript	uc010nbn.3	nonsynonymous SNV	exon3	c.C3640A	p.R1214S	YDGAASAYAQNYRYPEPERPSSRAS	YDGAASAYAQNYSYPEPERPSSRAS	8.0	7.0	-	-	2591_9:139366491-139366491 G>T_YDGAASAYAQNYSYPEPERPSSRAS
6:17837720-17837720 G>A	1.0	2591	MELANOMA	-	-	-	-	KIF13A	uc003ncg.4,p.L309F|NM_022113,p.L309F|NM_001105567,p.L309F|NM_001105568,p.L309F|ENST00000378826,p.L309F|ENST00000378816,p.L309F|ENST00000378814,p.L309F|uc003nch.4,p.L309F|ENST00000259711,p.L309F|uc003nci.4,p.L309F|NM_001105566,p.L309F|ENST00000378843,p.L309F|uc003ncf.3,p.L309F	retained_intron, protein_coding, processed_transcript	uc003nci.4	nonsynonymous SNV	exon10	c.C925T	p.L309F	GKSKFVPYRDSVLTWLLKDNLGGNS	GKSKFVPYRDSVFTWLLKDNLGGNS	7.0	6.0	-	-	2591_6:17837720-17837720 G>A_GKSKFVPYRDSVFTWLLKDNLGGNS
12:56397840-56397840 C>T	1.0	2591	MELANOMA	-	-	-	-	SUOX	NM_000456,p.P223S|ENST00000548274,p.P223S|ENST00000266971,p.P223S|uc001siy.3,p.P223S|ENST00000550065,p.P223S|ENST00000394109,p.P223S|ENST00000394115,p.P223S|NM_001032386,p.P223S|NM_001032387,p.P223S|ENST00000356124,p.P223S|uc001sja.3,p.P223S|uc001siz.3,p.P223S|uc001six.3,p.P223S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sja.3	nonsynonymous SNV	exon3	c.C667T	p.P223S	NPIFFTRNHLPVPNLDPDTYRLHVV	NPIFFTRNHLPVSNLDPDTYRLHVV	7.0	1.0	-	-	2591_12:56397840-56397840 C>T_NPIFFTRNHLPVSNLDPDTYRLHVV
17:30348769-30348769 C>T	0.0	2591	MELANOMA	-	-	-	-	LRRC37B	ENST00000543378,p.L120F|ENST00000394713,p.L202F|ENST00000327564,p.L229F|uc031qzu.1,p.L120F|NM_052888,p.L202F|ENST00000578674,p.L214F|uc031qzs.1,p.L120F|uc010wbx.2,p.L120F|ENST00000584368,p.L214F|ENST00000341671,p.L202F|uc010csu.3,p.L202F|uc002hgu.3,p.L202F|ENST00000579206,p.L120F|ENST00000583342,p.L184F|uc031qzt.1,p.L120F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qzu.1	nonsynonymous SNV	exon1	c.C358T	p.L120F	KNLKKDLAERWSLPEIVGIPHQLSK	KNLKKDLAERWSFPEIVGIPHQLSK	6.0	3.0	-	-	2591_17:30348769-30348769 C>T_KNLKKDLAERWSFPEIVGIPHQLSK
15:66737003-66737003 G>A	1.0	2591	MELANOMA	-	-	-	1	MAP2K1	ENST00000307102,p.G176S|NM_002755,p.G176S|uc010ujp.2,p.G154S|uc010bhq.3,p.G176S	retained_intron, protein_coding	uc010ujp.2	nonsynonymous SNV	exon5	c.G460A	p.G154S	QILGKVSIAVIKGLTYLREKHKIMH	QILGKVSIAVIKSLTYLREKHKIMH	10.0	8.0	-	-	2591_15:66737003-66737003 G>A_QILGKVSIAVIKSLTYLREKHKIMH
16:28890396-28890396 C>T	1.0	2591	MELANOMA	-	-	-	-	ATP2A1-AS1	ENST00000563975,p.S4F	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000563975	nonsynonymous SNV	exon1	c.C11T	p.S4F	MNLSFSSFSWVELPAE	MNLFFSSFSWVELPAE	4.0	1.0	unscreened	-	2591_16:28890396-28890396 C>T_MNLFFSSFSWVELPAE
1:109486627-109486627 C>T	1.0	2591	MELANOMA	-	-	-	-	CLCC1	NM_001048210,p.R131K|uc001dwf.2,p.R131K|ENST00000356970,p.R131K|ENST00000369971,p.R131K|ENST00000369976,p.R131K|uc001dwh.2,p.R131K|uc021ora.1,p.R131K	protein_coding, processed_transcript	uc021ora.1	nonsynonymous SNV	exon4	c.G392A	p.R131K	GDMHYDAEIILKRETLLEIQKFLNG	GDMHYDAEIILKKETLLEIQKFLNG	8.0	4.0	-	-	2591_1:109486627-109486627 C>T_GDMHYDAEIILKKETLLEIQKFLNG
2:15744625-15744625 C>T	1.0	2591	MELANOMA	-	-	-	-	DDX1	NM_004939,p.S206F|ENST00000381341,p.S206F|uc010yjq.2,p.S114F|uc021vee.2,p.S125F|ENST00000233084,p.S206F|uc002rce.4,p.S206F	retained_intron, protein_coding	uc021vee.2	nonsynonymous SNV	exon6	c.C374T	p.S125F	CYLDIDKGHVKFSKNGKDLGLAFEI	CYLDIDKGHVKFFKNGKDLGLAFEI	9.0	7.0	-	-	2591_2:15744625-15744625 C>T_CYLDIDKGHVKFFKNGKDLGLAFEI
2:10912060-10912060 C>T	1.0	2591	MELANOMA	-	-	-	-	ATP6V1C2	uc002rat.3,p.P189L|NM_144583,p.P189L|uc002ras.3,p.P189L|NM_001039362,p.P189L|ENST00000272238,p.P189L|ENST00000381661,p.P189L	retained_intron, protein_coding	uc002rat.3	nonsynonymous SNV	exon7	c.C566T	p.P189L	DSEYLVTLLVIVPKPNYSQWQKTYE	DSEYLVTLLVIVLKPNYSQWQKTYE	9.0	5.0	-	-	2591_2:10912060-10912060 C>T_DSEYLVTLLVIVLKPNYSQWQKTYE
14:31085627-31085627 T>G	1.0	2591	MELANOMA	-	-	-	-	G2E3	uc001wql.1,p.L182V|NM_017769,p.L670V|ENST00000553504,p.L700V|ENST00000438909,p.L624V|ENST00000206595,p.L670V|uc010tpf.1,p.L624V|uc001wqk.2,p.L670V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tpf.1	nonsynonymous SNV	exon14	c.T1870G	p.L624V	VDFPVGNKCNNCLAIPITNTYKEFQ	VDFPVGNKCNNCVAIPITNTYKEFQ	5.0	5.0	-	-	2591_14:31085627-31085627 T>G_VDFPVGNKCNNCVAIPITNTYKEFQ
1:11080543-11080543 G>T	1.0	2591	MELANOMA	-	-	-	-	TARDBP	uc001art.3,p.D201Y|uc010oap.2,p.D85Y|ENST00000473869,p.D201Y|ENST00000439080,p.D85Y|ENST00000240185,p.D201Y|ENST00000315091,p.D201Y|NM_007375,p.D201Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc010oap.2	nonsynonymous SNV	exon4	c.G253T	p.D85Y	RSRKVFVGRCTEDMTEDELREFFSQ	RSRKVFVGRCTEYMTEDELREFFSQ	10.0	3.0	-	-	2591_1:11080543-11080543 G>T_RSRKVFVGRCTEYMTEDELREFFSQ
2:207169575-207169575 C>T	1.0	2591	MELANOMA	-	-	-	-	ZDBF2	uc002vbp.2,p.S108F|NM_001285549,p.S106F|ENST00000374423,p.S108F|uc031rqy.1,p.S106F|NM_020923,p.S108F	protein_coding	uc031rqy.1	nonsynonymous SNV	exon7	c.C317T	p.S106F	KVEDEDATEERPSEVSEPIEELHSR	KVEDEDATEERPFEVSEPIEELHSR	5.0	7.0	-	-	2591_2:207169575-207169575 C>T_KVEDEDATEERPFEVSEPIEELHSR
16:3063874-3063874 G>A	0.0	2591	MELANOMA	-	-	-	-	CLDN9	ENST00000445369,p.A171T|NM_020982,p.A171T|uc010uwo.1,p.A171T	protein_coding	uc010uwo.1	nonsynonymous SNV	exon1	c.G511A	p.A171T	ELGASLYLGWAAAALLMLGGGLLCC	ELGASLYLGWAATALLMLGGGLLCC	1.0	10.0	-	-	2591_16:3063874-3063874 G>A_ELGASLYLGWAATALLMLGGGLLCC
11:32955998-32955998 T>C	1.0	2591	MELANOMA	-	-	-	-	QSER1	uc001mtz.1,p.L697P|uc001mty.3,p.L936P|ENST00000527788,p.L697P|NM_001076786,p.L936P|ENST00000399302,p.L936P|uc001mua.3,p.L441P	retained_intron, protein_coding, processed_transcript	uc001mua.3	nonsynonymous SNV	exon1	c.T1322C	p.L441P	NQVTVNLSPVPALQSKMTLDQQHIE	NQVTVNLSPVPAPQSKMTLDQQHIE	6.0	3.0	-	-	2591_11:32955998-32955998 T>C_NQVTVNLSPVPAPQSKMTLDQQHIE
10:74831919-74831919 G>A	1.0	2591	MELANOMA	-	-	-	-	P4HA1	NM_001017962,p.R65W|ENST00000307116,p.R65W|NM_001142595,p.R65W|uc001jtg.3,p.R65W|uc021ptk.1,p.R65W|ENST00000440381,p.R65W|ENST00000263556,p.R65W|NM_001142596,p.R65W|uc021ptj.1,p.R65W|uc010qka.2,p.R65W|NM_000917,p.R65W|uc001jth.3,p.R65W|ENST00000412021,p.R65W|ENST00000373008,p.R65W|uc010qkb.2,p.R65W|ENST00000394890,p.R65W	protein_coding, processed_transcript	uc021ptk.1	nonsynonymous SNV	exon3	c.C193T	p.R65W	LEQIKKWAEKLDRLTSTATKDPEGF	LEQIKKWAEKLDWLTSTATKDPEGF	10.0	4.0	-	-	2591_10:74831919-74831919 G>A_LEQIKKWAEKLDWLTSTATKDPEGF
12:123818611-123818611 A>G	1.0	2591	MELANOMA	-	-	-	-	SBNO1	ENST00000420886,p.Y300H|uc001uet.2,p.Y300H|ENST00000267176,p.Y299H|ENST00000602398,p.Y300H|uc001uev.2,p.Y298H|uc010tao.2,p.Y299H|uc009zxy.1,p.Y265H|NM_001167856,p.Y300H|uc010tap.2,p.Y300H|uc001ueu.2,p.Y299H|ENST00000602750,p.Y299H|NM_018183,p.Y299H	protein_coding	uc010tap.2	nonsynonymous SNV	exon6	c.T898C	p.Y300H	GWLSALQLEAITYAAQQHETFLPNG	GWLSALQLEAITHAAQQHETFLPNG	6.0	3.0	-	-	2591_12:123818611-123818611 A>G_GWLSALQLEAITHAAQQHETFLPNG
17:74287468-74287468 G>A	1.0	2591	MELANOMA	-	-	-	-	QRICH2	uc002jrd.1,p.R948C|NM_032134,p.R948C|ENST00000262765,p.R948C	protein_coding, nonsense_mediated_decay	uc002jrd.1	nonsynonymous SNV	exon4	c.C2842T	p.R948C	LFDSHDSMYPGYRGPGYLSADQHGQ	LFDSHDSMYPGYCGPGYLSADQHGQ	4.0	4.0	-	-	2591_17:74287468-74287468 G>A_LFDSHDSMYPGYCGPGYLSADQHGQ
14:36140677-36140677 G>A	0.0	2591	MELANOMA	-	-	-	-	RALGAPA1	uc001wti.3,p.S1201L|ENST00000389698,p.S1201L|NM_001283044,p.S1248L|uc010tpw.1,p.S1248L|NM_194301,p.S1201L|NM_014990,p.S1201L|ENST00000258840,p.S1248L|ENST00000382366,p.S1214L|ENST00000307138,p.S1201L|uc001wtj.3,p.S1201L|ENST00000553892,p.S1248L|uc010tpv.2,p.S1214L|NM_001283043,p.S1214L	retained_intron, protein_coding, processed_transcript	uc010tpw.1	nonsynonymous SNV	exon26	c.C3743T	p.S1248L	NTIIKHCSPQFFSLGLPGATMLIMD	NTIIKHCSPQFFLLGLPGATMLIMD	5.0	1.0	-	-	2591_14:36140677-36140677 G>A_NTIIKHCSPQFFLLGLPGATMLIMD
12:49666152-49666152 G>A	0.0	2591	MELANOMA	-	-	ID=COSM291236;OCCURENCE=1(large_intestine)	-	TUBA1C	uc010smi.1,p.L146F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010smi.1	nonsynonymous SNV	exon1	c.C436T	p.L146F	LGRRVNGELQLGLLAIIN	LGRRVNGELQLGFLAIIN	10.0	1.0	unscreened	-	2591_12:49666152-49666152 G>A_LGRRVNGELQLGFLAIIN
1:78481827-78481827 C>T	1.0	2591	MELANOMA	-	-	-	-	DNAJB4	uc001dij.3,p.P304S|NM_007034,p.P304S|ENST00000370763,p.P304S|uc010orn.2,p.P189S	protein_coding, processed_transcript	uc010orn.2	nonsynonymous SNV	exon3	c.C565T	p.P189S	RIIGYGLPFPKNPDQRGDLLIEFEV	RIIGYGLPFPKNSDQRGDLLIEFEV	5.0	10.0	-	-	2591_1:78481827-78481827 C>T_RIIGYGLPFPKNSDQRGDLLIEFEV
8:48869938-48869938 G>A	0.0	2591	MELANOMA	-	-	-	-	PRKDC	ENST00000338368,p.R70W|ENST00000314191,p.R70W|uc003xqj.3,p.R70W|uc003xqi.3,p.R70W	retained_intron, protein_coding, processed_transcript	uc003xqj.3	nonsynonymous SNV	exon2	c.C208T	p.R70W	VFSRDFGLLVFVRKSLNSIEFRECR	VFSRDFGLLVFVWKSLNSIEFRECR	9.0	2.0	-	-	2591_8:48869938-48869938 G>A_VFSRDFGLLVFVWKSLNSIEFRECR
11:118376137-118376137 C>T	0.0	2591	MELANOMA	-	-	-	1	KMT2A	uc001ptb.3,p.P3177L|NM_001197104,p.P3177L|NM_005933,p.P3174L|ENST00000354520,p.P3136L|ENST00000534358,p.P3177L|ENST00000389506,p.P3174L|uc001pta.3,p.P3174L	retained_intron, protein_coding, processed_transcript	uc001ptb.3	nonsynonymous SNV	exon27	c.C9530T	p.P3177L	LHSFPAATQSSFPPNISNPPSGLLI	LHSFPAATQSSFLPNISNPPSGLLI	5.0	4.0	-	-	2591_11:118376137-118376137 C>T_LHSFPAATQSSFLPNISNPPSGLLI
16:20809759-20809759 G>A	1.0	2591	MELANOMA	-	-	-	-	ERI2	uc010vbb.1,p.H455Y|ENST00000389345,p.H190Y|uc002dht.3,p.H362Y|ENST00000357967,p.H455Y|ENST00000564349,p.H362Y|uc010bwh.2,p.H362Y|uc010vbc.1,p.H227Y|NM_001142725,p.H455Y|ENST00000563117,p.H362Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vbc.1	nonsynonymous SNV	exon8	c.C679T	p.H227Y	RLMVLKELEMSSHENFGDIEETPQK	RLMVLKELEMSSYENFGDIEETPQK	6.0	2.0	-	-	2591_16:20809759-20809759 G>A_RLMVLKELEMSSYENFGDIEETPQK
17:4904079-4904079 C>T	1.0	2591	MELANOMA	-	-	-	-	KIF1C	uc002gan.2,p.P40L|NM_006612,p.P40L|ENST00000320785,p.P40L|ENST00000574165,p.P40L	retained_intron, protein_coding, processed_transcript	uc002gan.2	nonsynonymous SNV	exon4	c.C119T	p.P40L	VSMQGNTTSIINPKQSKDAPKSFTF	VSMQGNTTSIINLKQSKDAPKSFTF	9.0	4.0	-	-	2591_17:4904079-4904079 C>T_VSMQGNTTSIINLKQSKDAPKSFTF
1:248652071-248652071 G>C	0.0	2591	MELANOMA	-	rs199723306	-	-	OR2T5	ENST00000366473,p.S61T|uc001iem.1,p.S61T|NM_001004697,p.S61T	protein_coding	uc001iem.1	nonsynonymous SNV	exon1	c.G182C	p.S61T	LILLIHCDAHLHSPMYFFISQLSLM	LILLIHCDAHLHTPMYFFISQLSLM	1.0	1.0	unscreened	-	2591_1:248652071-248652071 G>C_LILLIHCDAHLHTPMYFFISQLSLM
4:111434659-111434659 C>T	0.0	2591	MELANOMA	-	-	-	-	ENPEP	NM_001977,p.T466I|uc003iab.4,p.T466I|ENST00000265162,p.T466I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003iab.4	nonsynonymous SNV	exon7	c.C1397T	p.T466I	LMSSHPIIVTVTTPDEITSVFDGIS	LMSSHPIIVTVTIPDEITSVFDGIS	1.0	2.0	-	-	2591_4:111434659-111434659 C>T_LMSSHPIIVTVTIPDEITSVFDGIS
19:36380914-36380914 G>T	1.0	2591	MELANOMA	-	-	-	-	NFKBID	NM_139239,p.P256T|ENST00000340950,p.P93T|ENST00000606253,p.P256T|uc002och.1,p.P93T|uc002oci.1,p.P256T|ENST00000352614,p.P408T|ENST00000396901,p.P256T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002oci.1	nonsynonymous SNV	exon11	c.C766A	p.P256T	GNTALHMAAALPPGPAQEAIVRHLL	GNTALHMAAALPTGPAQEAIVRHLL	5.0	10.0	unscreened	-	2591_19:36380914-36380914 G>T_GNTALHMAAALPTGPAQEAIVRHLL
6:107069350-107069350 G>A	1.0	2591	MELANOMA	-	-	-	-	RTN4IP1	ENST00000539449,p.P149S|ENST00000369063,p.P149S|NM_032730,p.P149S|uc003prk.3,p.P49S|uc003prj.3,p.P149S|uc010kdd.3,p.P149S	protein_coding, processed_transcript	uc010kdd.3	nonsynonymous SNV	exon3	c.C445T	p.P149S	FKPGDEVWAAVPPWKQGTLSEFVVV	FKPGDEVWAAVPSWKQGTLSEFVVV	6.0	4.0	-	-	2591_6:107069350-107069350 G>A_FKPGDEVWAAVPSWKQGTLSEFVVV
4:81504276-81504276 A>C	0.0	2591	MELANOMA	-	-	-	-	C4orf22	ENST00000358105,p.Q91P|uc003hmf.3,p.Q91P|ENST00000513920,p.Q91P|NM_152770,p.Q91P|NM_001206997,p.Q91P|uc010ijp.3,p.Q91P|ENST00000508675,p.Q91P	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ijp.3	nonsynonymous SNV	exon3	c.A272C	p.Q91P	QQKTLTSAGKDLQDNFLTALAMREE	QQKTLTSAGKDLPDNFLTALAMREE	1.0	6.0	-	-	2591_4:81504276-81504276 A>C_QQKTLTSAGKDLPDNFLTALAMREE
4:110685831-110685831 G>A	1.0	2591	MELANOMA	-	-	-	-	CFI	ENST00000512148,p.S115F|ENST00000510800,p.S115F|ENST00000394634,p.S115F|NM_000204,p.S115F|ENST00000394635,p.S115F|uc003hzr.4,p.S115F|uc011cft.2,p.S115F	retained_intron, protein_coding	uc011cft.2	nonsynonymous SNV	exon3	c.C344T	p.S115F	NGTCTAEGKFSVSLKHGNTDSEGIV	NGTCTAEGKFSVFLKHGNTDSEGIV	5.0	5.0	-	-	2591_4:110685831-110685831 G>A_NGTCTAEGKFSVFLKHGNTDSEGIV
5:140553135-140553135 C>T	0.0	2591	MELANOMA	-	-	-	-	PCDHB7	NM_018940,p.P240L|uc003lit.3,p.P240L|ENST00000231137,p.P240L	protein_coding	uc003lit.3	nonsynonymous SNV	exon1	c.C719T	p.P240L	VRILVLDVNDNAPDFVRSLYKVQVP	VRILVLDVNDNALDFVRSLYKVQVP	1.0	10.0	-	-	2591_5:140553135-140553135 C>T_VRILVLDVNDNALDFVRSLYKVQVP
4:113352069-113352069 C>T	1.0	2591	MELANOMA	-	-	-	-	ALPK1	uc011cfx.2,p.L378F|ENST00000177648,p.L456F|uc010imo.3,p.L284F|uc003ian.4,p.L456F|NM_001102406,p.L456F|ENST00000458497,p.L456F|uc003iap.4,p.L456F|NM_025144,p.L456F|NM_001253884,p.L378F|ENST00000504176,p.L378F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cfx.2	nonsynonymous SNV	exon10	c.C1132T	p.L378F	LILHGQGDFQKILDTYSQHHTSVCE	LILHGQGDFQKIFDTYSQHHTSVCE	6.0	7.0	-	-	2591_4:113352069-113352069 C>T_LILHGQGDFQKIFDTYSQHHTSVCE
19:15507966-15507966 G>A	1.0	2591	MELANOMA	-	-	-	-	AKAP8L	NM_001291478,p.R450C|uc010xoh.1,p.R450C|ENST00000397410,p.R511C|ENST00000595465,p.R450C|NM_014371,p.R511C|uc002naw.1,p.R511C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xoh.1	nonsynonymous SNV	exon12	c.C1348T	p.R450C	QKHLKTMDHNRNRRLMMEQSKKSSL	QKHLKTMDHNRNCRLMMEQSKKSSL	9.0	6.0	-	-	2591_19:15507966-15507966 G>A_QKHLKTMDHNRNCRLMMEQSKKSSL
6:100369042-100369042 G>A	0.0	2591	MELANOMA	-	-	-	-	MCHR2	uc003pqh.1,p.P266L|NM_001040179,p.P266L|NM_032503,p.P266L|uc003pqi.1,p.P266L|ENST00000445970,p.P266L|ENST00000281806,p.P266L|ENST00000369212,p.P266L	protein_coding	uc003pqi.1	nonsynonymous SNV	exon6	c.C797T	p.P266L	LVLVVVFILSAAPYHVIQLVNLQME	LVLVVVFILSAALYHVIQLVNLQME	1.0	7.0	-	-	2591_6:100369042-100369042 G>A_LVLVVVFILSAALYHVIQLVNLQME
1:214813713-214813713 G>A	0.0	2591	MELANOMA	-	-	-	-	CENPF	NM_016343,p.E678K|uc001hkm.3,p.E678K|ENST00000366955,p.E678K	protein_coding, processed_transcript	uc001hkm.3	nonsynonymous SNV	exon12	c.G2032A	p.E678K	RTLEMDRENLSVEIRNLHNVLDSKS	RTLEMDRENLSVKIRNLHNVLDSKS	9.0	5.0	-	-	2591_1:214813713-214813713 G>A_RTLEMDRENLSVKIRNLHNVLDSKS
16:86601315-86601315 C>T	0.0	2591	MELANOMA	-	-	-	-	FOXC2	ENST00000320354,p.S125L|uc002fjq.3,p.S125L|NM_005251,p.S125L	protein_coding	uc002fjq.3	nonsynonymous SNV	exon1	c.C374T	p.S125L	KQGWQNSIRHNLSLNECFVKVPRDD	KQGWQNSIRHNLLLNECFVKVPRDD	1.0	4.0	-	-	2591_16:86601315-86601315 C>T_KQGWQNSIRHNLLLNECFVKVPRDD
1:186908307-186908307 C>T	1.0	2591	MELANOMA	-	-	ID=COSM133987;OCCURENCE=1(skin)	-	PLA2G4A	uc001gsc.3,p.P288L|ENST00000442353,p.P228L|ENST00000367466,p.P288L|NM_024420,p.P288L|uc010pos.2,p.P228L	protein_coding, processed_transcript	uc010pos.2	nonsynonymous SNV	exon7	c.C683T	p.P228L	VESLWKKKSSGQPVTFTDIFGMLIG	VESLWKKKSSGQLVTFTDIFGMLIG	8.0	2.0	unscreened	-	2591_1:186908307-186908307 C>T_VESLWKKKSSGQLVTFTDIFGMLIG
12:121434167-121434167 C>T	0.0	2591	MELANOMA	-	-	-	1	HNF1A	uc021rfb.1,p.P225L|uc010szn.2,p.P353L|uc001tzf.3,p.P353L|ENST00000400024,p.P353L|NM_000545,p.P353L|ENST00000543427,p.P236L|uc001tzg.3,p.P353L|ENST00000541395,p.P353L|ENST00000402929,p.P353L|uc021rfa.1,p.P353L|ENST00000257555,p.P353L|ENST00000544413,p.P353L|uc001tze.2,p.P353L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021rfb.1	nonsynonymous SNV	exon4	c.C674T	p.P225L	LVTVSTPLHQVSPTGLEPSHSLLST	LVTVSTPLHQVSLTGLEPSHSLLST	5.0	2.0	-	-	2591_12:121434167-121434167 C>T_LVTVSTPLHQVSLTGLEPSHSLLST
4:87968025-87968025 C>T	0.0	2591	MELANOMA	-	-	-	1	AFF1	ENST00000507468,p.S113F|uc003hqj.4,p.S106F|ENST00000503477,p.S113F|NM_005935,p.S106F|NM_001166693,p.S113F|ENST00000307808,p.S106F|uc003hqk.4,p.S106F|uc011ccy.2,p.S113F|ENST00000395146,p.S113F|uc003hqh.2,p.S113F|uc011ccz.2,p.S113F|uc011ccx.2,p.S47F	retained_intron, protein_coding, processed_transcript	uc011ccz.2	nonsynonymous SNV	exon4	c.C338T	p.S113F	LIPDKGSSIPSSSFHTSVHHQSIHT	LIPDKGSSIPSSFFHTSVHHQSIHT	6.0	7.0	-	-	2591_4:87968025-87968025 C>T_LIPDKGSSIPSSFFHTSVHHQSIHT
7:121721584-121721584 G>-	0.0	2591	MELANOMA	-	-	-	-	AASS	ENST00000393376,p.A750fs|uc003vkb.3,p.A750fs|NM_005763,p.A750fs|uc011knw.2,p.A238fs|uc003vka.3,p.A750fs|ENST00000417368,p.A750fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011knw.2	frameshift deletion	exon9	c.714delC	p.A238fs	VKLGLINREALPAFRPEANPLTWKQ	VKLGLINREALPALDLRPTLSPGNNSSVT	4.0	2.0	unscreened	-	2591_7:121721584-121721584 G>-_VKLGLINREALPALDLRPTLSPGNNSSVT
6:90347468-90347468 G>A	1.0	2591	MELANOMA	-	-	-	-	LYRM2	ENST00000520441,p.T60I	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000520441	nonsynonymous SNV	exon2	c.C179T	p.T60I	WAREEFRRNKSATEEVRTKSWLRPR	WAREEFRRNKSAIEEVRTKSWLRPR	8.0	8.0	unscreened	-	2591_6:90347468-90347468 G>A_WAREEFRRNKSAIEEVRTKSWLRPR
8:77766737-77766737 C>T	0.0	2591	MELANOMA	-	-	-	-	ZFHX4	uc003yau.2,p.P2527L|uc003yaw.1,p.P2482L|NM_024721,p.P2527L|ENST00000455469,p.P2482L|ENST00000050961,p.P2482L|ENST00000518282,p.P2501L|ENST00000521891,p.P2527L	retained_intron, protein_coding, nonsense_mediated_decay	uc003yaw.1	nonsynonymous SNV	exon9	c.C7445T	p.P2482L	HFLAAQNQFLHSPFLERPMDMPYMI	HFLAAQNQFLHSLFLERPMDMPYMI	1.0	10.0	-	-	2591_8:77766737-77766737 C>T_HFLAAQNQFLHSLFLERPMDMPYMI
1:246729379-246729379 C>T	1.0	2591	MELANOMA	-	-	-	-	TFB2M	uc001ibn.3,p.G21D|NM_022366,p.G21D|ENST00000544618,p.G21D|ENST00000366514,p.G21D	protein_coding	uc001ibn.3	nonsynonymous SNV	exon1	c.G62A	p.G21D	PRRLRLSALAGAGRFCILGSEAATR	PRRLRLSALAGADRFCILGSEAATR	7.0	2.0	-	-	2591_1:246729379-246729379 C>T_PRRLRLSALAGADRFCILGSEAATR
6:90347468-90347468 G>A	1.0	2591	MELANOMA	-	-	-	-	LYRM2	ENST00000520318,p.T60I	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000520318	nonsynonymous SNV	exon2	c.C179T	p.T60I	WAREEFRRNKSATEEVRTKSWIQSG	WAREEFRRNKSAIEEVRTKSWIQSG	8.0	8.0	unscreened	-	2591_6:90347468-90347468 G>A_WAREEFRRNKSAIEEVRTKSWIQSG
1:158632503-158632503 G>A	0.0	2591	MELANOMA	-	-	-	-	SPTA1	ENST00000368147,p.S818F|uc001fst.1,p.S818F|NM_003126,p.S818F|ENST00000368148,p.S818F	protein_coding, processed_transcript	uc001fst.1	nonsynonymous SNV	exon17	c.C2453T	p.S818F	EAWIQETEPSATSTYLGKDLIASKK	EAWIQETEPSATFTYLGKDLIASKK	1.0	7.0	-	-	2591_1:158632503-158632503 G>A_EAWIQETEPSATFTYLGKDLIASKK
12:133764542-133764542 C>T	1.0	2591	MELANOMA	-	-	-	-	ZNF268	uc010tcf.2,p.P40S|NM_152943,p.P40S|NM_003415,p.P40S|NM_001165885,p.P40S|uc010tcb.2,p.P40S|uc010tbw.2,p.P40S|ENST00000542986,p.P40S|NM_001165881,p.P40S|ENST00000541211,p.P40S|ENST00000541009,p.P40S|ENST00000536435,p.P40S|uc010tch.2,p.P40S|uc010tcg.2,p.P40S|NM_001165883,p.P40S|ENST00000539248,p.P40S|ENST00000416488,p.P205S|ENST00000228289,p.P40S|ENST00000540096,p.P205S	retained_intron, nonsense_mediated_decay, protein_coding	uc010tch.2	nonsynonymous SNV	exon3	c.C118T	p.P40S	LQGQESILGQGTPGLQPLPGTPRQK	LQGQESILGQGTSGLQPLPGTPRQK	5.0	6.0	-	-	2591_12:133764542-133764542 C>T_LQGQESILGQGTSGLQPLPGTPRQK
3:158320649-158320649 C>T	1.0	2591	MELANOMA	-	-	-	1	MLF1	uc010hvx.3,p.P140S|ENST00000484955,p.P183S|ENST00000482628,p.P183S|ENST00000478894,p.P198S|ENST00000491767,p.P134S|uc003fcc.3,p.P239S|ENST00000355893,p.P208S|ENST00000471745,p.P198S|NM_001195434,p.P198S|uc003fby.3,p.P134S|ENST00000392822,p.P239S|NM_022443,p.P208S|uc003fca.3,p.P183S|ENST00000498592,p.P163S|ENST00000469452,p.P140S|uc003fcb.3,p.P208S|ENST00000359117,p.P183S|NM_001195432,p.P239S|NM_001195433,p.P140S|uc003fbz.3,p.P183S|NM_001130157,p.P183S|uc003fbx.3,p.P198S|NM_001130156,p.P183S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010hvx.3	nonsynonymous SNV	exon6	c.C418T	p.P140S	DEEWQSEVLKYKPGRHNLGNTRMRS	DEEWQSEVLKYKSGRHNLGNTRMRS	7.0	10.0	-	-	2591_3:158320649-158320649 C>T_DEEWQSEVLKYKSGRHNLGNTRMRS
22:31737416-31737416 G>A	1.0	2591	MELANOMA	-	-	-	1	PATZ1	NM_032051,p.A530V|uc003aks.3,p.A530V|ENST00000215919,p.A530V	retained_intron, protein_coding	uc003aks.3	nonsynonymous SNV	exon3	c.C1589T	p.A530V	LRQGWTTPEGSRAFTQWPVG	LRQGWTTPEGSRVFTQWPVG	8.0	4.0	-	-	2591_22:31737416-31737416 G>A_LRQGWTTPEGSRVFTQWPVG
22:42385598-42385598 G>T	1.0	2591	MELANOMA	-	-	-	-	SEPT3	ENST00000396426,p.M193I|ENST00000291236,p.M129I|ENST00000396425,p.M193I|uc011apj.2,p.M129I|uc003bbr.4,p.M193I|ENST00000406029,p.M129I|NM_019106,p.M193I|NM_145733,p.M193I|uc003bbs.4,p.M193I	retained_intron, protein_coding, nonsense_mediated_decay	uc011apj.2	nonsynonymous SNV	exon5	c.G387T	p.M129I	TGHSLRPLDLEFMKHLSKVVNIIPV	TGHSLRPLDLEFIKHLSKVVNIIPV	8.0	9.0	-	-	2591_22:42385598-42385598 G>T_TGHSLRPLDLEFIKHLSKVVNIIPV
2:64322205-64322205 C>G	1.0	2591	MELANOMA	-	-	-	-	PELI1	NM_020651,p.R296S|uc002scs.4,p.R296S|uc002sct.4,p.R296S|uc002scr.4,p.R117S|ENST00000358912,p.R296S	protein_coding, processed_transcript	uc002sct.4	nonsynonymous SNV	exon7	c.G888C	p.R296S	VGFNTLAFPSMKRKDVVDEKQPWVY	VGFNTLAFPSMKSKDVVDEKQPWVY	6.0	9.0	-	-	2591_2:64322205-64322205 C>G_VGFNTLAFPSMKSKDVVDEKQPWVY
6:90347468-90347468 G>A	1.0	2591	MELANOMA	-	-	-	-	LYRM2	uc003pnm.3,p.T60I|NM_020466,p.T60I|ENST00000523377,p.T60I	protein_coding, processed_transcript, nonsense_mediated_decay	uc003pnm.3	nonsynonymous SNV	exon2	c.C179T	p.T60I	WAREEFRRNKSATEEDTIRMMITQG	WAREEFRRNKSAIEEDTIRMMITQG	8.0	8.0	unscreened	-	2591_6:90347468-90347468 G>A_WAREEFRRNKSAIEEDTIRMMITQG
18:54424310-54424310 C>T	0.0	2591	MELANOMA	-	-	-	-	WDR7	uc002lgk.1,p.P829L|ENST00000254442,p.P829L|NM_015285,p.P829L|ENST00000585824,p.P231L|uc002lgl.1,p.P829L|NM_052834,p.P829L|ENST00000357574,p.P829L	retained_intron, protein_coding, nonsense_mediated_decay	uc002lgl.1	nonsynonymous SNV	exon15	c.C2486T	p.P829L	DEVCLDRLGMLKPHCTVSFGLLSRG	DEVCLDRLGMLKLHCTVSFGLLSRG	4.0	9.0	-	-	2591_18:54424310-54424310 C>T_DEVCLDRLGMLKLHCTVSFGLLSRG
7:126173490-126173490 G>A	0.0	2591	MELANOMA	-	-	ID=COSM141888;OCCURENCE=1(skin)	-	GRM8	NM_000845,p.S649F|ENST00000444921,p.S649F|uc003vlt.2,p.S649F|ENST00000339582,p.S649F|ENST00000472701,p.S649F|ENST00000358373,p.S649F|NM_001127323,p.S649F|uc003vlr.2,p.S649F	protein_coding, processed_transcript, nonsense_mediated_decay	uc003vlt.2	nonsynonymous SNV	exon9	c.C1946T	p.S649F	FLMIAAPDTIICSFRRVFLGLGMCF	FLMIAAPDTIICFFRRVFLGLGMCF	1.0	10.0	-	-	2591_7:126173490-126173490 G>A_FLMIAAPDTIICFFRRVFLGLGMCF
6:43305003-43305003 G>A	1.0	2591	MELANOMA	-	-	-	-	ZNF318	uc003oux.3,p.P2245S|NM_014345,p.P2245S|ENST00000361428,p.P2245S	protein_coding	uc003oux.3	nonsynonymous SNV	exon10	c.C6733T	p.P2245S	LNLVKAPVSRSPPREQVIEDNMVPQ	LNLVKAPVSRSPSREQVIEDNMVPQ	6.0	10.0	-	-	2591_6:43305003-43305003 G>A_LNLVKAPVSRSPSREQVIEDNMVPQ
21:41151086-41151086 C>T	0.0	2591	MELANOMA	-	-	-	-	IGSF5	uc002yyo.3,p.T263I|NM_001080444,p.T263I|ENST00000380588,p.T263I	retained_intron, protein_coding, processed_transcript	uc002yyo.3	nonsynonymous SNV	exon5	c.C788T	p.T263I	LSSLPSLGFSLPTWGKVGLGLAGTM	LSSLPSLGFSLPIWGKVGLGLAGTM	1.0	7.0	-	-	2591_21:41151086-41151086 C>T_LSSLPSLGFSLPIWGKVGLGLAGTM
2:179642578-179642578 C>T	0.0	2591	MELANOMA	-	-	-	-	TTN	uc031rqd.1,p.E1445K|uc021vta.2,p.E1399K|ENST00000460472,p.E1399K|uc031rqc.1,p.E1445K|ENST00000591111,p.E1445K|ENST00000342992,p.E1445K|NM_133432,p.E1399K|NM_133379,p.E1445K|ENST00000359218,p.E1399K|uc002unb.3,p.E1445K|ENST00000342175,p.E1399K|uc021vsz.2,p.E1399K|NM_003319,p.E1399K|NM_001256850,p.E1445K|ENST00000360870,p.E1445K|uc021vsy.2,p.E1445K|NM_001267550,p.E1445K|ENST00000589042,p.E1445K|NM_133378,p.E1445K|NM_133437,p.E1399K|uc021vtb.2,p.E1399K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon25	c.G4333A	p.E1445K	SPARMSPGRRLEETDESQLERLYKP	SPARMSPGRRLEKTDESQLERLYKP	1.0	8.0	unscreened	-	2591_2:179642578-179642578 C>T_SPARMSPGRRLEKTDESQLERLYKP
9:104448881-104448881 G>A	0.0	2591	MELANOMA	-	-	-	-	GRIN3A	uc004bbp.2,p.S434L|uc004bbq.1,p.S434L|NM_133445,p.S434L|ENST00000361820,p.S434L	protein_coding, processed_transcript	uc004bbq.1	nonsynonymous SNV	exon2	c.C1301T	p.S434L	VETTNLTSGQYLSRFLANTTFRGLS	VETTNLTSGQYLLRFLANTTFRGLS	1.0	1.0	-	-	2591_9:104448881-104448881 G>A_VETTNLTSGQYLLRFLANTTFRGLS
19:41386486-41386486 C>A	0.0	2591	MELANOMA	-	-	-	-	CYP2A7	NM_030589,p.A80S|NM_000764,p.A131S|uc002opm.3,p.A131S|ENST00000301146,p.A131S|ENST00000291764,p.A80S|uc002opo.3,p.A131S|uc002opn.3,p.A80S	retained_intron, protein_coding, nonsense_mediated_decay	uc002opo.3	nonsynonymous SNV	exon3	c.G391T	p.A131S	SNGERAKQLLRFAIATLRDFGVGKR	SNGERAKQLLRFSIATLRDFGVGKR	1.0	2.0	unscreened	-	2591_19:41386486-41386486 C>A_SNGERAKQLLRFSIATLRDFGVGKR
15:43641189-43641189 G>A	1.0	2591	MELANOMA	-	-	-	-	ADAL	ENST00000389651,p.E240K|NM_001159280,p.E213K|uc001zri.2,p.E125K|uc010udo.2,p.E213K|NM_001012969,p.E240K|ENST00000428046,p.E213K|ENST00000562188,p.E240K|uc001zrh.3,p.E240K|ENST00000422466,p.E240K	retained_intron, protein_coding, nonsense_mediated_decay	uc010udo.2	nonsynonymous SNV	exon10	c.G637A	p.E213K	DRIGHGTFLNSGEGGSLDLVDFVRQ	DRIGHGTFLNSGKGGSLDLVDFVRQ	6.0	10.0	-	-	2591_15:43641189-43641189 G>A_DRIGHGTFLNSGKGGSLDLVDFVRQ
11:124310597-124310597 G>A	0.0	2591	MELANOMA	-	-	-	-	OR8B8	NM_012378,p.P129S|uc010sal.2,p.P129S|ENST00000328064,p.P129S	protein_coding	uc010sal.2	nonsynonymous SNV	exon1	c.C385T	p.P129S	AMAYDRYVAICNPLLYMVTMSPQVC	AMAYDRYVAICNSLLYMVTMSPQVC	1.0	8.0	unscreened	-	2591_11:124310597-124310597 G>A_AMAYDRYVAICNSLLYMVTMSPQVC
1:186908306-186908306 C>T	1.0	2591	MELANOMA	-	-	-	-	PLA2G4A	NM_024420,p.P288S|ENST00000442353,p.P228S|ENST00000367466,p.P288S|uc001gsc.3,p.P288S|uc010pos.2,p.P228S	protein_coding, processed_transcript	uc010pos.2	nonsynonymous SNV	exon7	c.C682T	p.P228S	VESLWKKKSSGQPVTFTDIFGMLIG	VESLWKKKSSGQSVTFTDIFGMLIG	8.0	3.0	unscreened	-	2591_1:186908306-186908306 C>T_VESLWKKKSSGQSVTFTDIFGMLIG
6:160671658-160671658 T>C	0.0	2591	MELANOMA	-	-	-	-	SLC22A2	ENST00000366952,p.T178A|ENST00000366953,p.T199A|uc003qtf.3,p.T199A|NM_003058,p.T199A|uc003qth.2,p.T199A	protein_coding, processed_transcript	uc003qth.2	nonsynonymous SNV	exon3	c.A595G	p.T199A	NAAAGVLMAISPTYTWMLIFRLIQG	NAAAGVLMAISPAYTWMLIFRLIQG	1.0	9.0	-	-	2591_6:160671658-160671658 T>C_NAAAGVLMAISPAYTWMLIFRLIQG
15:67665763-67665763 C>T	0.0	2591	MELANOMA	-	-	-	-	IQCH	NM_001284348,p.P207L|NM_001031715,p.P455L|ENST00000358767,p.P282L|NM_001284347,p.P203L|uc002aqo.2,p.P455L|uc002aqp.2,p.P207L|ENST00000546225,p.P203L|ENST00000335894,p.P455L|ENST00000360277,p.P207L|uc002aqq.2,p.P203L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002aqq.2	nonsynonymous SNV	exon6	c.C608T	p.P203L	RIRTSRRTIIHIPSLGYSQPVREHI	RIRTSRRTIIHILSLGYSQPVREHI	3.0	8.0	-	-	2591_15:67665763-67665763 C>T_RIRTSRRTIIHILSLGYSQPVREHI
15:67665763-67665763 C>T	0.0	2591	MELANOMA	-	-	-	-	IQCH	uc002aqn.2,p.P282L|NM_001284349,p.P282L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002aqn.2	nonsynonymous SNV	exon7	c.C845T	p.P282L	RIRTSRRTIIHIPSLGITLLPANLS	RIRTSRRTIIHILSLGITLLPANLS	3.0	8.0	-	-	2591_15:67665763-67665763 C>T_RIRTSRRTIIHILSLGITLLPANLS
12:12815259-12815259 C>T	1.0	2591	MELANOMA	-	-	-	-	GPR19	uc001rar.3,p.E42K|ENST00000332427,p.E42K|ENST00000540796,p.E42K|uc001raq.2,p.E42K|uc021qvj.1,p.E42K|NM_006143,p.E42K|ENST00000540510,p.E42K	protein_coding, processed_transcript	uc021qvj.1	nonsynonymous SNV	exon1	c.G124A	p.E42K	ETATPLPSQYLMELSEEHSWMSNQT	ETATPLPSQYLMKLSEEHSWMSNQT	4.0	6.0	-	-	2591_12:12815259-12815259 C>T_ETATPLPSQYLMKLSEEHSWMSNQT
6:90347468-90347468 G>A	1.0	2591	MELANOMA	-	-	-	-	LYRM2	ENST00000412237,p.T60I	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000412237	nonsynonymous SNV	exon2	c.C179T	p.T60I	WAREEFRRNKSATEEASPTTEAQDL	WAREEFRRNKSAIEEASPTTEAQDL	8.0	8.0	unscreened	-	2591_6:90347468-90347468 G>A_WAREEFRRNKSAIEEASPTTEAQDL
15:66853612-66853612 C>T	0.0	2591	MELANOMA	-	-	-	-	LCTL	ENST00000341509,p.M174I|uc002aqc.3,p.M174I|NM_207338,p.M174I	protein_coding, processed_transcript, nonsense_mediated_decay	uc002aqc.3	nonsynonymous SNV	exon5	c.G522A	p.M174I	LQVKYGGWQNVSMANYFRDYANLCF	LQVKYGGWQNVSIANYFRDYANLCF	5.0	1.0	-	-	2591_15:66853612-66853612 C>T_LQVKYGGWQNVSIANYFRDYANLCF
19:55085924-55085924 C>T	0.0	2591	MELANOMA	-	-	-	-	LILRA2	NM_001290271,p.P76L|uc010yfe.1,p.P76L|uc010yff.1,p.P64L|NM_001130917,p.P76L|uc010ero.3,p.P64L|uc010ern.3,p.P76L|NM_001290270,p.P64L|ENST00000391737,p.P64L|uc002qgg.4,p.P76L|ENST00000391738,p.P76L|ENST00000251376,p.P76L|uc002qgf.3,p.P76L|ENST00000251377,p.P76L|ENST00000439534,p.P76L|uc010yfg.1,p.P76L|NM_006866,p.P76L	protein_coding, processed_transcript	uc010yfg.1	nonsynonymous SNV	exon3	c.C227T	p.P76L	NKSASWVRRIQEPGKNGQFPIPSIT	NKSASWVRRIQELGKNGQFPIPSIT	1.0	9.0	-	-	2591_19:55085924-55085924 C>T_NKSASWVRRIQELGKNGQFPIPSIT
7:22986630-22986630 C>T	0.0	2591	MELANOMA	-	-	-	-	FAM126A	uc003svn.4,p.G266R|ENST00000409923,p.G410R	retained_intron, protein_coding, processed_transcript	uc003svn.4	nonsynonymous SNV	exon10	c.G796A	p.G266R	RRQKSVRKMMEDGINSPGRVQF	RRQKSVRKMMEDRINSPGRVQF	7.0	1.0	unscreened	-	2591_7:22986630-22986630 C>T_RRQKSVRKMMEDRINSPGRVQF
18:43221197-43221197 G>A	0.0	2591	MELANOMA	-	-	-	-	SLC14A2	NM_001242692,p.E339K|uc010dnj.3,p.E339K|uc002lbb.3,p.E339K|NM_007163,p.E339K|ENST00000586448,p.E339K|uc002lbe.3,p.E339K|ENST00000255226,p.E339K	protein_coding, nonsense_mediated_decay	uc010dnj.3	nonsynonymous SNV	exon9	c.G1015A	p.E339K	GLLAALSVATPFETIYTGLWSYNCV	GLLAALSVATPFKTIYTGLWSYNCV	1.0	5.0	-	-	2591_18:43221197-43221197 G>A_GLLAALSVATPFKTIYTGLWSYNCV
11:27114898-27114898 A>G	0.0	2591	MELANOMA	-	-	-	-	BBOX1	ENST00000525090,p.Y173C|ENST00000528583,p.Y173C|NM_003986,p.Y173C|ENST00000529202,p.Y173C|ENST00000263182,p.Y173C|uc001mre.1,p.Y173C|uc009yih.1,p.Y173C|uc021qfd.1,p.Y173C|uc001mrg.1,p.Y173C	retained_intron, protein_coding, processed_transcript	uc021qfd.1	nonsynonymous SNV	exon3	c.A518G	p.Y173C	EVSKLGKRMGFLYLTFYGHTWQVQD	EVSKLGKRMGFLCLTFYGHTWQVQD	1.0	9.0	-	-	2591_11:27114898-27114898 A>G_EVSKLGKRMGFLCLTFYGHTWQVQD
4:6578398-6578398 G>A	0.0	2591	MELANOMA	-	-	-	-	MAN2B2	NM_015274,p.E78K|ENST00000504248,p.E78K|uc011bwf.1,p.E78K|ENST00000285599,p.E78K|NM_001292038,p.E78K|uc003gjf.1,p.E78K|uc003gje.1,p.E78K	protein_coding, processed_transcript	uc011bwf.1	nonsynonymous SNV	exon2	c.G232A	p.E78K	RGQQRRFIAVEQEFFRLWWDGVASD	RGQQRRFIAVEQKFFRLWWDGVASD	6.0	10.0	-	-	2591_4:6578398-6578398 G>A_RGQQRRFIAVEQKFFRLWWDGVASD
2:136111084-136111084 C>T	1.0	2591	MELANOMA	-	-	-	-	ZRANB3	ENST00000536680,p.E99K|uc002tul.3,p.E99K|uc002tun.1,p.E39K|ENST00000401392,p.E99K|NM_032143,p.E99K|uc002tum.3,p.E99K|ENST00000403017,p.E99K|ENST00000264159,p.E99K|NM_001286568,p.E99K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tun.1	nonsynonymous SNV	exon2	c.G115A	p.E39K	PSSLRYPWTEEIEKWIPELSPEEIN	PSSLRYPWTEEIKKWIPELSPEEIN	6.0	6.0	-	-	2591_2:136111084-136111084 C>T_PSSLRYPWTEEIKKWIPELSPEEIN
14:38275666-38275666 C>T	0.0	2591	MELANOMA	-	-	-	1	FOXA1,SSTR1	uc001wuj.3,p.S152L|ENST00000478811,p.S153L|ENST00000553443,p.S1422L|ENST00000382320,p.S136L	protein_coding, processed_transcript, nonsense_mediated_decay	uc001wuj.3	nonsynonymous SNV	exon5	c.C455T	p.S152L	RGLCKVKLHKDSSILDFNRAITLNP	RGLCKVKLHKDSLILDFNRAITLNP	1.0	7.0	-	-	2591_14:38275666-38275666 C>T_RGLCKVKLHKDSLILDFNRAITLNP
17:6387556-6387556 C>T	0.0	2591	MELANOMA	-	-	-	-	PITPNM3	NM_031220,p.E111K|ENST00000421306,p.E75K|uc010cln.3,p.E75K|ENST00000262483,p.E111K|NM_001165966,p.E75K|uc002gdd.4,p.E111K	retained_intron, protein_coding, processed_transcript	uc010cln.3	nonsynonymous SNV	exon4	c.G223A	p.E75K	LRRQRFPAQGSIEIHEDSEEGCPQR	LRRQRFPAQGSIKIHEDSEEGCPQR	2.0	3.0	-	-	2591_17:6387556-6387556 C>T_LRRQRFPAQGSIKIHEDSEEGCPQR
17:6594177-6594177 G>A	0.0	2591	MELANOMA	-	-	-	-	SLC13A5	NM_177550,p.S453F|ENST00000573648,p.S453F|uc010clq.3,p.S410F|NM_001284509,p.S436F|ENST00000572727,p.S156F|ENST00000381074,p.S410F|NM_001143838,p.S453F|NM_001284510,p.S410F|uc002gdj.3,p.S453F|ENST00000293800,p.S436F|uc010vtf.2,p.S453F|ENST00000433363,p.S453F|uc002gdk.3,p.S436F	retained_intron, protein_coding, nonsense_mediated_decay	uc010vtf.2	nonsynonymous SNV	exon10	c.C1358T	p.S453F	HAVPPAAITLILSLLVAVFTECTSN	HAVPPAAITLILFLLVAVFTECTSN	1.0	2.0	-	-	2591_17:6594177-6594177 G>A_HAVPPAAITLILFLLVAVFTECTSN
6:109900769-109900769 C>T	0.0	2591	MELANOMA	-	-	-	-	AK9	ENST00000368948,p.M725I	retained_intron, protein_coding	ENST00000368948	nonsynonymous SNV	exon20	c.G2175A	p.M725I	RLEEENRRLLELMKVKAKGKHRLL	RLEEENRRLLELIKVKAKGKHRLL	5.0	6.0	unscreened	-	2591_6:109900769-109900769 C>T_RLEEENRRLLELIKVKAKGKHRLL
10:85991832-85991832 C>T	0.0	2591	MELANOMA	-	-	-	-	LRIT1	ENST00000372105,p.E575K|uc001kcz.1,p.E575K|NM_015613,p.E575K	protein_coding	uc001kcz.1	nonsynonymous SNV	exon4	c.G1723A	p.E575K	DSTEATVTYVNLERLGYSEDGLEEL	DSTEATVTYVNLKRLGYSEDGLEEL	1.0	10.0	-	-	2591_10:85991832-85991832 C>T_DSTEATVTYVNLKRLGYSEDGLEEL
1:179533877-179533877 G>A	0.0	2591	MELANOMA	-	-	-	-	NPHS2	NM_001297575,p.S109F|NM_014625,p.S109F|ENST00000367616,p.S109F|ENST00000367615,p.S109F|uc001gmq.4,p.S109F|uc009wxi.3,p.S109F	protein_coding	uc009wxi.3	nonsynonymous SNV	exon2	c.C326T	p.S109F	GLGACEWLLVLISLLFIIMTFPFSI	GLGACEWLLVLIFLLFIIMTFPFSI	1.0	8.0	-	-	2591_1:179533877-179533877 G>A_GLGACEWLLVLIFLLFIIMTFPFSI
6:109900769-109900769 C>T	0.0	2591	MELANOMA	-	-	-	-	AK9	uc003ptn.2,p.M725I|ENST00000424296,p.M725I|NM_001145128,p.M725I	retained_intron, protein_coding	uc003ptn.2	nonsynonymous SNV	exon20	c.G2175A	p.M725I	RLEEENRRLLELMKVKAKEAEETDN	RLEEENRRLLELIKVKAKEAEETDN	5.0	6.0	-	-	2591_6:109900769-109900769 C>T_RLEEENRRLLELIKVKAKEAEETDN
8:14095134-14095134 G>A	0.0	2591	MELANOMA	-	-	-	-	SGCZ	ENST00000421524,p.H84Y|ENST00000382080,p.H131Y|uc003wwq.3,p.H131Y|uc010lss.3,p.H84Y|NM_139167,p.H131Y	protein_coding	uc010lss.3	nonsynonymous SNV	exon2	c.C250T	p.H84Y	QSDRNVTVNARNHMGQLTGQLTIGA	QSDRNVTVNARNYMGQLTGQLTIGA	1.0	10.0	-	-	2591_8:14095134-14095134 G>A_QSDRNVTVNARNYMGQLTGQLTIGA
3:41274911-41274911 T>A	1.0	2591	MELANOMA	-	-	ID=COSM131449;OCCURENCE=1(kidney),1(liver),1(large_intestine),1(prostate)	1	CTNNB1	ENST00000396185,p.N387K|ENST00000405570,p.N387K|NM_001098209,p.N387K|uc010hia.1,p.N387K|uc011azf.1,p.N380K|ENST00000453024,p.N380K|uc003ckq.2,p.N387K|uc003ckp.2,p.N387K|ENST00000396183,p.N387K|uc011azg.1,p.N315K|ENST00000349496,p.N387K|NM_001098210,p.N387K|NM_001904,p.N387K|uc003ckr.2,p.N387K	retained_intron, protein_coding, processed_transcript	uc011azg.1	nonsynonymous SNV	exon8	c.T945A	p.N315K	QRLVQNCLWTLRNLSDAATKQEGME	QRLVQNCLWTLRKLSDAATKQEGME	10.0	7.0	-	-	2591_3:41274911-41274911 T>A_QRLVQNCLWTLRKLSDAATKQEGME
1:176709319-176709319 C>T	0.0	2591	MELANOMA	-	-	-	-	PAPPA2	NM_020318,p.H1380Y|uc001gkz.3,p.H1380Y|ENST00000367662,p.H1380Y	protein_coding, processed_transcript	uc001gkz.3	nonsynonymous SNV	exon14	c.C4138T	p.H1380Y	PSNCISEDEGQNHQGQSCIHRPCGK	PSNCISEDEGQNYQGQSCIHRPCGK	1.0	4.0	-	-	2591_1:176709319-176709319 C>T_PSNCISEDEGQNYQGQSCIHRPCGK
2:234854632-234854632 C>T	0.0	2591	MELANOMA	-	-	-	-	TRPM8	uc002vvh.3,p.R278W|ENST00000444298,p.R278W|NM_024080,p.R278W|ENST00000324695,p.R278W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002vvh.3	nonsynonymous SNV	exon7	c.C832T	p.R278W	GCHGHPTVEAKLRNQLEKYISERTI	GCHGHPTVEAKLWNQLEKYISERTI	5.0	7.0	-	-	2591_2:234854632-234854632 C>T_GCHGHPTVEAKLWNQLEKYISERTI
22:26688546-26688546 C>T	0.0	2591	MELANOMA	-	-	-	-	SEZ6L	NM_001184774,p.P90L|NM_001184775,p.P90L|ENST00000360929,p.P90L|ENST00000343706,p.P90L|NM_001184773,p.P90L|uc011akc.2,p.P90L|NM_021115,p.P90L|ENST00000248933,p.P90L|uc003acd.3,p.P90L|uc003acc.3,p.P90L|uc003acb.3,p.P90L|ENST00000404234,p.P90L|uc011akd.2,p.P90L|NM_001184777,p.P90L|NM_001184776,p.P90L|ENST00000529632,p.P90L|uc003ace.3,p.P90L	retained_intron, protein_coding, processed_transcript	uc011akd.2	nonsynonymous SNV	exon2	c.C269T	p.P90L	EVLGELVLDGTAPSAHHDIPALSPL	EVLGELVLDGTALSAHHDIPALSPL	1.0	3.0	-	-	2591_22:26688546-26688546 C>T_EVLGELVLDGTALSAHHDIPALSPL
17:7701960-7701960 C>T	0.0	2591	MELANOMA	-	-	-	-	DNAH2	ENST00000572933,p.S2828F|ENST00000389173,p.S2828F|NM_020877,p.S2828F|uc002giu.1,p.S2828F	retained_intron, protein_coding, nonsense_mediated_decay	uc002giu.1	nonsynonymous SNV	exon54	c.C8483T	p.S2828F	SFIFVDTQIADESFLEDINNILSSG	SFIFVDTQIADEFFLEDINNILSSG	1.0	9.0	-	-	2591_17:7701960-7701960 C>T_SFIFVDTQIADEFFLEDINNILSSG
4:338186-338186 G>T	0.0	2591	MELANOMA	-	rs78725891	-	-	ZNF141	uc003fzz.2,p.V65L	protein_coding, processed_transcript	uc003fzz.2	nonsynonymous SNV	exon3	c.G193T	p.V65L	VTCLEQRKEPYNVKIHKIVARPPDG	VTCLEQRKEPYNLKIHKIVARPPDG	5.0	1.0	unscreened	-	2591_4:338186-338186 G>T_VTCLEQRKEPYNLKIHKIVARPPDG
4:338186-338186 G>T	0.0	2591	MELANOMA	-	rs78725891	-	-	ZNF141	ENST00000505939,p.V65L	protein_coding, processed_transcript	ENST00000505939	nonsynonymous SNV	exon3	c.G193T	p.V65L	VTCLEQRKEPYNVKIHKIVARPPEF	VTCLEQRKEPYNLKIHKIVARPPEF	5.0	1.0	unscreened	-	2591_4:338186-338186 G>T_VTCLEQRKEPYNLKIHKIVARPPEF
12:46321095-46321095 G>A	1.0	2591	MELANOMA	-	-	-	-	SCAF11	ENST00000549162,p.P605S|uc001rox.3,p.P797S|ENST00000547018,p.P737S|ENST00000419565,p.P797S|NM_004719,p.P797S|uc001roy.1,p.P871S|uc001row.3,p.P482S|ENST00000369367,p.P797S|ENST00000465950,p.P482S	retained_intron, protein_coding, processed_transcript	uc001roy.1	nonsynonymous SNV	exon12	c.C2611T	p.P871S	KKPRTRRSRFHSPSTTWSPNKDTPQ	KKPRTRRSRFHSSSTTWSPNKDTPQ	8.0	2.0	-	-	2591_12:46321095-46321095 G>A_KKPRTRRSRFHSSSTTWSPNKDTPQ
3:120371485-120371485 G>A	0.0	2591	MELANOMA	-	-	-	-	HGD	NM_000187,p.P99L|uc003edw.3,p.P99L|ENST00000283871,p.P99L|ENST00000476082,p.P58L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003edw.3	nonsynonymous SNV	exon5	c.C296T	p.P99L	EVDPDPNQLRWKPFEIPKASQKKVD	EVDPDPNQLRWKLFEIPKASQKKVD	2.0	8.0	-	-	2591_3:120371485-120371485 G>A_EVDPDPNQLRWKLFEIPKASQKKVD
10:8007211-8007211 C>T	1.0	2591	MELANOMA	-	-	-	-	TAF3	NM_031923,p.L580F|ENST00000344293,p.L580F|uc010qbd.3,p.L580F	protein_coding	uc010qbd.3	nonsynonymous SNV	exon3	c.C1738T	p.L580F	TGRETKYPWKEFLKEEEADPYKFKI	TGRETKYPWKEFFKEEEADPYKFKI	5.0	7.0	-	-	2591_10:8007211-8007211 C>T_TGRETKYPWKEFFKEEEADPYKFKI
2:27803644-27803644 C>T	0.0	2591	MELANOMA	-	-	-	-	C2orf16	ENST00000408964,p.P1402L|uc002rkz.4,p.P1402L|NM_032266,p.P1402L	protein_coding	uc002rkz.4	nonsynonymous SNV	exon1	c.C4205T	p.P1402L	YYPKQNARDYCLPSSIKRDKRSADK	YYPKQNARDYCLLSSIKRDKRSADK	3.0	2.0	-	-	2591_2:27803644-27803644 C>T_YYPKQNARDYCLLSSIKRDKRSADK
2:196825422-196825422 G>A	0.0	2591	MELANOMA	-	-	ID=COSM718707;OCCURENCE=1(lung)	-	DNAH7	ENST00000312428,p.P818L|uc002utj.4,p.P818L|NM_018897,p.P818L	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon18	c.C2453T	p.P818L	GLYKLEKTFHDSPYALAMTKKVRSK	GLYKLEKTFHDSLYALAMTKKVRSK	1.0	8.0	-	-	2591_2:196825422-196825422 G>A_GLYKLEKTFHDSLYALAMTKKVRSK
1:116666729-116666729 G>A	0.0	2591	MELANOMA	-	-	-	-	MAB21L3	ENST00000369500,p.G78S|NM_152367,p.G78S|uc001egc.1,p.G78S	protein_coding, processed_transcript	uc001egc.1	nonsynonymous SNV	exon4	c.G232A	p.G78S	APSQFLVTVPIKGLAGYREAREQHW	APSQFLVTVPIKSLAGYREAREQHW	1.0	6.0	unscreened	-	2591_1:116666729-116666729 G>A_APSQFLVTVPIKSLAGYREAREQHW
7:22986629-22986629 C>T	0.0	2591	MELANOMA	-	-	-	-	FAM126A	ENST00000409923,p.G410E|uc003svn.4,p.G266E	retained_intron, protein_coding, processed_transcript	uc003svn.4	nonsynonymous SNV	exon10	c.G797A	p.G266E	RRQKSVRKMMEDGINSPGRVQF	RRQKSVRKMMEDEINSPGRVQF	7.0	1.0	unscreened	-	2591_7:22986629-22986629 C>T_RRQKSVRKMMEDEINSPGRVQF
11:7960263-7960263 C>T	0.0	2591	MELANOMA	-	-	-	-	OR10A3	uc010rbi.2,p.E269K|ENST00000360759,p.E269K|NM_001003745,p.E269K	protein_coding	uc010rbi.2	nonsynonymous SNV	exon1	c.G805A	p.E269K	MTYLQPKSGYSPETKKLISLAYTLL	MTYLQPKSGYSPKTKKLISLAYTLL	1.0	9.0	-	-	2591_11:7960263-7960263 C>T_MTYLQPKSGYSPKTKKLISLAYTLL
7:121721585-121721585 G>A	0.0	2591	MELANOMA	-	-	-	-	AASS	uc011knw.2,p.A238V|ENST00000393376,p.A750V|ENST00000417368,p.A750V|uc003vkb.3,p.A750V|NM_005763,p.A750V|uc003vka.3,p.A750V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011knw.2	nonsynonymous SNV	exon9	c.C713T	p.A238V	VKLGLINREALPAFRPEANPLTWKQ	VKLGLINREALPVFRPEANPLTWKQ	4.0	2.0	unscreened	-	2591_7:121721585-121721585 G>A_VKLGLINREALPVFRPEANPLTWKQ
17:7126027-7126027 C>G	1.0	2591	MELANOMA	-	-	-	-	ACADVL	NM_001270448,p.T231R|ENST00000350303,p.T285R|NM_001270447,p.T330R|ENST00000356839,p.T307R|uc002gex.4,p.T231R|uc010vtp.3,p.T330R|NM_001033859,p.T285R|uc002gev.4,p.T307R|ENST00000543245,p.T330R|NM_000018,p.T307R|uc002gew.4,p.T285R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vtp.3	nonsynonymous SNV	exon11	c.C989G	p.T330R	PPEKKMGIKASNTAEVFFDGVRVPS	PPEKKMGIKASNRAEVFFDGVRVPS	10.0	4.0	-	-	2591_17:7126027-7126027 C>G_PPEKKMGIKASNRAEVFFDGVRVPS
6:117686839-117686839 C>T	0.0	2591	MELANOMA	-	-	-	1	ROS1	ENST00000368508,p.G960R|NM_002944,p.G960R|ENST00000368507,p.G955R|uc003pxp.1,p.G960R	protein_coding	uc003pxp.1	nonsynonymous SNV	exon19	c.G2878A	p.G960R	PDSVQESSFRIEGNASSFQILWNGP	PDSVQESSFRIERNASSFQILWNGP	1.0	6.0	-	-	2591_6:117686839-117686839 C>T_PDSVQESSFRIERNASSFQILWNGP
7:91503289-91503297 CAGAACCAG>-	1.0	2591	MELANOMA	-	-	-	-	MTERF1	uc011khm.1,p.251_253del|uc010leu.1,p.251_253del|ENST00000351870,p.271_273del|ENST00000419292,p.251_253del|ENST00000406735,p.251_253del|NM_001301134,p.251_253del|NM_001301135,p.251_253del|uc003ulc.1,p.271_273del|NM_006980,p.271_273del	protein_coding, processed_transcript	uc011khm.1	nonframeshift deletion	exon4	c.751_759del	p.251_253del	LRSTFNLNSEELLVLICGPGAEILD	LRSTFNLNSEELICGPGAEILDLSN	7.0	3.0	unscreened	-	2591_7:91503289-91503297 CAGAACCAG>-_LRSTFNLNSEELICGPGAEILDLSN
X:105280686-105280686 G>A	0.0	2591	MELANOMA	-	-	-	-	SERPINA7	uc004eme.2,p.P122S|ENST00000372563,p.P122S|ENST00000327674,p.P122S|uc010npe.2,p.P122S|uc010npd.3,p.P122S|NM_000354,p.P122S	protein_coding, processed_transcript	uc010npe.2	nonsynonymous SNV	exon2	c.C364T	p.P122S	HGFQHLICSLNFPKKELELQIGNAL	HGFQHLICSLNFSKKELELQIGNAL	1.0	10.0	-	-	2591_X:105280686-105280686 G>A_HGFQHLICSLNFSKKELELQIGNAL
4:184368277-184368277 ->T	1.0	2591	MELANOMA	-	-	-	-	CDKN2AIP	uc003ivp.1,p.V480fs|ENST00000504169,p.V480fs|NM_017632,p.V480fs|uc003ivq.1,p.V225fs	protein_coding, processed_transcript	uc003ivq.1	frameshift insertion	exon3	c.676dupT	p.V225fs	NAAIEALKATLDVFFVPLKELADLP	NAAIEALKATLDVFFCPTKRIGRSASK	7.0	3.0	unscreened	-	2591_4:184368277-184368277 ->T_NAAIEALKATLDVFFCPTKRIGRSASK
4:81791162-81791162 C>T	0.0	2591	MELANOMA	-	-	ID=COSM222034;OCCURENCE=1(large_intestine),1(skin)	-	C4orf22	ENST00000513920,p.S156L	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000513920	nonsynonymous SNV	exon5	c.C467T	p.S156L	RHAPPHPVRDLYS	RHAPPHPVRDLYL	1.0	3.0	unscreened	-	2591_4:81791162-81791162 C>T_RHAPPHPVRDLYL
16:76389314-76389314 G>A	0.0	2591	MELANOMA	-	-	ID=COSM704076,COSM704077,COSM704078;OCCURENCE=1(lung)	-	CNTNAP4	uc010chb.1,p.G74E|ENST00000476707,p.G102E|ENST00000377504,p.G98E|NM_138994,p.G74E|ENST00000307431,p.G98E|ENST00000478060,p.G74E|uc002fex.1,p.G102E|uc002few.2,p.G74E	retained_intron, protein_coding, processed_transcript, TEC	uc010chb.1	nonsynonymous SNV	exon3	c.G221A	p.G74E	ERMEVTAVATQGGYGSSNWVTSYLL	ERMEVTAVATQGEYGSSNWVTSYLL	1.0	8.0	unscreened	-	2591_16:76389314-76389314 G>A_ERMEVTAVATQGEYGSSNWVTSYLL
X:151128413-151128413 C>T	0.0	2591	MELANOMA	-	-	-	-	GABRE	ENST00000393914,p.E35K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000393914	nonsynonymous SNV	exon6	c.G103A	p.E35K	VSYPENEMIYKWENFKLEINEKNSW	VSYPENEMIYKWKNFKLEINEKNSW	1.0	10.0	unscreened	-	2591_X:151128413-151128413 C>T_VSYPENEMIYKWKNFKLEINEKNSW
X:151128413-151128413 C>T	0.0	2591	MELANOMA	-	-	-	-	GABRE	uc004ffi.3,p.E228K|ENST00000370325,p.E228K|ENST00000370328,p.E228K|NM_004961,p.E228K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004ffi.3	nonsynonymous SNV	exon6	c.G682A	p.E228K	FSYPENEMIYKWENFKLEINEKNSW	FSYPENEMIYKWKNFKLEINEKNSW	1.0	10.0	-	-	2591_X:151128413-151128413 C>T_FSYPENEMIYKWKNFKLEINEKNSW
11:103870929-103870929 C>T	1.0	2591	MELANOMA	-	-	-	-	PDGFD	ENST00000302251,p.G54E|NM_033135,p.G54E|uc001php.3,p.G54E|uc001phq.3,p.G60E|NM_025208,p.G60E|ENST00000529268,p.G83E|ENST00000393158,p.G60E	protein_coding	uc001phq.3	nonsynonymous SNV	exon2	c.G179A	p.G60E	DLYRRDETIQVKGNGYVQSPRFPNS	DLYRRDETIQVKENGYVQSPRFPNS	6.0	5.0	-	-	2591_11:103870929-103870929 C>T_DLYRRDETIQVKENGYVQSPRFPNS
22:37271761-37271761 G>A	0.0	2591	MELANOMA	-	-	-	-	NCF4	uc003apz.4,p.E232K|ENST00000248899,p.E232K|NM_013416,p.E232K|ENST00000447071,p.E129K|uc003apy.4,p.E232K|NM_000631,p.E232K|ENST00000397147,p.E232K	protein_coding	uc003apz.4	nonsynonymous SNV	exon8	c.G694A	p.E232K	PLSFVKILKDFPEEDDPTNWLRCYY	PLSFVKILKDFPKEDDPTNWLRCYY	1.0	8.0	-	-	2591_22:37271761-37271761 G>A_PLSFVKILKDFPKEDDPTNWLRCYY
4:338186-338186 G>T	0.0	2591	MELANOMA	-	rs78725891	-	-	ZNF141	NM_003441,p.V65L|ENST00000512994,p.V65L|uc003gaa.2,p.V65L|uc003gab.3,p.V65L|ENST00000240499,p.V65L	protein_coding, processed_transcript	uc003gab.3	nonsynonymous SNV	exon3	c.G193T	p.V65L	VTCLEQRKEPYNVKIHKIVARPPAM	VTCLEQRKEPYNLKIHKIVARPPAM	5.0	1.0	unscreened	-	2591_4:338186-338186 G>T_VTCLEQRKEPYNLKIHKIVARPPAM
12:119961610-119961610 G>A	0.0	2591	MELANOMA	-	-	-	-	CCDC60	uc001txe.3,p.E406K|NM_178499,p.E406K|ENST00000327554,p.E406K	protein_coding, processed_transcript	uc001txe.3	nonsynonymous SNV	exon11	c.G1216A	p.E406K	AQEAGFCLQDKMEILMKRQEERGIQ	AQEAGFCLQDKMKILMKRQEERGIQ	1.0	10.0	-	-	2591_12:119961610-119961610 G>A_AQEAGFCLQDKMKILMKRQEERGIQ
13:37678666-37678666 G>A	0.0	2591	MELANOMA	-	-	-	-	CSNK1A1L	uc001uwm.1,p.T243I|NM_145203,p.T243I|ENST00000379800,p.T243I	protein_coding	uc001uwm.1	nonsynonymous SNV	exon1	c.C728T	p.T243I	QKYEKISEKKMSTPVEVLCKGFPAE	QKYEKISEKKMSIPVEVLCKGFPAE	1.0	9.0	-	-	2591_13:37678666-37678666 G>A_QKYEKISEKKMSIPVEVLCKGFPAE
7:98490149-98490149 G>A	0.0	2591	MELANOMA	-	-	-	1	TRRAP	NM_003496,p.E122K|uc003upp.3,p.E122K|ENST00000359863,p.E122K|ENST00000446306,p.E122K|NM_001244580,p.E122K|ENST00000355540,p.E122K|uc011kis.2,p.E122K	retained_intron, protein_coding	uc011kis.2	nonsynonymous SNV	exon5	c.G364A	p.E122K	TKNVLSVMFRFLETENEENVLICLR	TKNVLSVMFRFLKTENEENVLICLR	5.0	2.0	-	-	2591_7:98490149-98490149 G>A_TKNVLSVMFRFLKTENEENVLICLR
19:57640306-57640306 C>T	0.0	2591	MELANOMA	-	-	-	-	USP29	ENST00000598197,p.S88F|uc002qny.3,p.S88F|uc021vci.1,p.S88F|ENST00000254181,p.S88F|NM_020903,p.S88F	protein_coding	uc021vci.1	nonsynonymous SNV	exon1	c.C263T	p.S88F	LKNNVFLFIDKLSYRDAKQLNMFLD	LKNNVFLFIDKLFYRDAKQLNMFLD	1.0	2.0	-	-	2591_19:57640306-57640306 C>T_LKNNVFLFIDKLFYRDAKQLNMFLD
3:28361074-28361074 G>A	1.0	2591	MELANOMA	-	-	-	-	CMC1	ENST00000466830,p.G92E|NM_182523,p.G92E|uc003cea.3,p.G92E|ENST00000423894,p.G62E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003cea.3	nonsynonymous SNV	exon4	c.G275A	p.G92E	EYLKEREEFRKTGIPTKKRLQKLPT	EYLKEREEFRKTEIPTKKRLQKLPT	10.0	4.0	-	-	2591_3:28361074-28361074 G>A_EYLKEREEFRKTEIPTKKRLQKLPT
19:41622492-41622492 C>T	0.0	2591	MELANOMA	-	-	-	-	CYP2F1	uc002opu.1,p.P102S|ENST00000331105,p.P102S|NM_000774,p.P102S|ENST00000532164,p.P102S|uc010xvv.1,p.P102S	retained_intron, protein_coding, nonsense_mediated_decay, non_stop_decay	uc010xvv.1	nonsynonymous SNV	exon3	c.C304T	p.P102S	DQGEEFSGRGDYPAFFNFTKGNGIA	DQGEEFSGRGDYSAFFNFTKGNGIA	1.0	9.0	-	-	2591_19:41622492-41622492 C>T_DQGEEFSGRGDYSAFFNFTKGNGIA
16:2815736-2815736 C>T	1.0	2591	MELANOMA	0	-	-	-	SRRM2	uc002crj.1,p.A1640V|uc010bsu.1,p.A1640V|NM_016333,p.A1736V|ENST00000301740,p.A1736V|uc002crl.1,p.A1736V|uc002crk.3,p.A1736V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bsu.1	nonsynonymous SNV	exon10	c.C4919T	p.A1640V	HRRSPSVSSPEPAEKSRSSRRRRSA	HRRSPSVSSPEPVEKSRSSRRRRSA	10.0	6.0	unscreened	-	2591_16:2815736-2815736 C>T_HRRSPSVSSPEPVEKSRSSRRRRSA
9:79324276-79324276 A>T	0.0	2591	MELANOMA	-	-	-	-	PRUNE2	ENST00000428286,p.S613T|ENST00000376718,p.S972T|NM_015225,p.S972T|uc022bih.1,p.S794T|uc010mpk.3,p.S972T	protein_coding, processed_transcript	uc022bih.1	nonsynonymous SNV	exon7	c.T2380A	p.S794T	PSPLDTNYSTSDSYTSPTFAGDEKE	PSPLDTNYSTSDTYTSPTFAGDEKE	1.0	2.0	-	-	2591_9:79324276-79324276 A>T_PSPLDTNYSTSDTYTSPTFAGDEKE
6:150157368-150157368 G>A	1.0	2591	MELANOMA	-	-	-	-	LRP11	ENST00000546019,p.P114S|NM_032832,p.P369S|uc003qng.2,p.P369S|ENST00000239367,p.P369S|uc003qnh.1,p.P369S	protein_coding, processed_transcript	uc003qnh.1	nonsynonymous SNV	exon5	c.C1105T	p.P369S	TAASPALPRTTGPSEDAGGDSLVEK	TAASPALPRTTGSSEDAGGDSLVEK	7.0	6.0	-	-	2591_6:150157368-150157368 G>A_TAASPALPRTTGSSEDAGGDSLVEK
6:31677896-31677896 T>C	0.0	2591	MELANOMA	-	-	-	-	LY6G6F	uc003nwb.1,p.V247A|ENST00000556581,p.V247A|ENST00000375832,p.V247A|ENST00000503322,p.V247A|uc003nwa.1,p.V247A|NM_001003693,p.V247A	protein_coding	uc003nwb.1	nonsynonymous SNV	exon4	c.T740C	p.V247A	WILMLLLTMGQGVVILALSIVLWRQ	WILMLLLTMGQGAVILALSIVLWRQ	1.0	9.0	unscreened	-	2591_6:31677896-31677896 T>C_WILMLLLTMGQGAVILALSIVLWRQ
18:47091789-47091789 C>T	0.0	2591	MELANOMA	-	-	-	-	LIPG	uc002ldu.1,p.S67F|uc002ldv.3,p.S67F|ENST00000579750,p.S55F|ENST00000577628,p.S103F|NM_006033,p.S67F|ENST00000580036,p.S67F|ENST00000261292,p.S67F|ENST00000427224,p.S67F|uc010xdh.2,p.S67F	protein_coding, non_stop_decay, TEC	uc010xdh.2	nonsynonymous SNV	exon2	c.C200T	p.S67F	TSKDPEHEGCYLSVGHSQPLEDCSF	TSKDPEHEGCYLFVGHSQPLEDCSF	1.0	3.0	-	-	2591_18:47091789-47091789 C>T_TSKDPEHEGCYLFVGHSQPLEDCSF
4:90857287-90857287 A>G	0.0	2591	MELANOMA	-	-	-	-	MMRN1	ENST00000508372,p.N561S|uc003hst.3,p.N819S|ENST00000264790,p.N819S|uc011cds.2,p.N561S|NM_007351,p.N819S|ENST00000394980,p.N819S	retained_intron, protein_coding	uc011cds.2	nonsynonymous SNV	exon6	c.A1682G	p.N561S	AGIPRDEKLNQSNFQKMYQMFNETT	AGIPRDEKLNQSSFQKMYQMFNETT	1.0	10.0	-	-	2591_4:90857287-90857287 A>G_AGIPRDEKLNQSSFQKMYQMFNETT
12:48389087-48389087 G>A	0.0	2591	MELANOMA	-	-	-	1	COL2A1	uc001rqu.3,p.P238L|ENST00000337299,p.P169L|NM_001844,p.P238L|uc001rqv.3,p.P169L|ENST00000380518,p.P238L|NM_033150,p.P169L	retained_intron, protein_coding, processed_transcript	uc001rqv.3	nonsynonymous SNV	exon10	c.C506T	p.P169L	NPGEPGEPGVSGPMGPRGPPGPPGK	NPGEPGEPGVSGLMGPRGPPGPPGK	3.0	2.0	-	-	2591_12:48389087-48389087 G>A_NPGEPGEPGVSGLMGPRGPPGPPGK
X:6451929-6451929 C>T	0.0	2591	MELANOMA	-	rs72609545	-	-	VCX3A	uc022bsg.1,p.V140M|uc004crs.3,p.V140M|NM_016379,p.V140M|ENST00000381089,p.V140M	protein_coding	uc022bsg.1	nonsynonymous SNV	exon2	c.G418A	p.V140M	SQVEEPLSQESEVEEPLSQESQVEE	SQVEEPLSQESEMEEPLSQESQVEE	1.0	1.0	unscreened	-	2591_X:6451929-6451929 C>T_SQVEEPLSQESEMEEPLSQESQVEE
X:6451929-6451929 C>T	0.0	2591	MELANOMA	-	rs72609545	-	-	VCX3A	ENST00000398729,p.V120M	protein_coding	ENST00000398729	nonsynonymous SNV	exon4	c.G358A	p.V120M	SELEEPLSQESEVEEPLSQESQVEE	SELEEPLSQESEMEEPLSQESQVEE	1.0	1.0	unscreened	-	2591_X:6451929-6451929 C>T_SELEEPLSQESEMEEPLSQESQVEE
7:84694833-84694833 G>A	0.0	2591	MELANOMA	-	-	-	-	SEMA3D	uc010lee.1,p.L209F|uc010led.3,p.L209F|ENST00000444867,p.L209F|NM_152754,p.L209F|ENST00000284136,p.L209F|uc003uic.3,p.L209F	retained_intron, protein_coding, processed_transcript	uc010lee.1	nonsynonymous SNV	exon8	c.C625T	p.L209F	DEYLYSGTASDFLGKDTAFTRSLGP	DEYLYSGTASDFFGKDTAFTRSLGP	5.0	9.0	-	-	2591_7:84694833-84694833 G>A_DEYLYSGTASDFFGKDTAFTRSLGP
1:109815466-109815466 G>A	1.0	2591	MELANOMA	-	-	-	-	CELSR2	NM_001408,p.D2719N|uc001dxa.4,p.D2719N|ENST00000271332,p.D2719N	protein_coding, processed_transcript	uc001dxa.4	nonsynonymous SNV	exon31	c.G8155A	p.D2719N	LEGQDQQHDPDTDSDSDLSLEDDQS	LEGQDQQHDPDTNSDSDLSLEDDQS	8.0	3.0	-	-	2591_1:109815466-109815466 G>A_LEGQDQQHDPDTNSDSDLSLEDDQS
X:20156738-20156738 T>C	1.0	2591	MELANOMA	-	-	-	2	EIF1AX	ENST00000379607,p.K7E|uc004czt.3,p.K7E|NM_001412,p.K7E	protein_coding	uc004czt.3	nonsynonymous SNV	exon2	c.A19G	p.K7E	MPKNKGKGGKNRRRGKNEN	MPKNKGEGGKNRRRGKNEN	9.0	10.0	unscreened	-	2591_X:20156738-20156738 T>C_MPKNKGEGGKNRRRGKNEN
15:74219582-74219582 G>A	0.0	2591	MELANOMA	0.22	-	-	-	LOXL1	ENST00000566011,p.G153D|NM_005576,p.G153D|ENST00000261921,p.G153D|uc002awc.1,p.G153D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002awc.1	nonsynonymous SNV	exon1	c.G458A	p.G153D	RARTSVSQQRHGGSASSVSASAFAS	RARTSVSQQRHGDSASSVSASAFAS	2.0	10.0	unscreened	-	2591_15:74219582-74219582 G>A_RARTSVSQQRHGDSASSVSASAFAS
11:5809595-5809595 A>C	0.0	2591	MELANOMA	-	-	ID=COSM688289;OCCURENCE=1(lung)	-	OR52N1	uc010qzo.2,p.F151C|ENST00000317078,p.F151C|NM_001001913,p.F151C	protein_coding	uc010qzo.2	nonsynonymous SNV	exon1	c.T452G	p.F151C	TNSVIAKAGFLTFLRGVMLVIPSTF	TNSVIAKAGFLTCLRGVMLVIPSTF	1.0	8.0	-	-	2591_11:5809595-5809595 A>C_TNSVIAKAGFLTCLRGVMLVIPSTF
3:195453110-195453110 G>A	0.0	2591	MELANOMA	-	-	ID=COSM730623;OCCURENCE=1(lung)	-	MUC20	ENST00000445522,p.V511I|ENST00000447234,p.V546I|ENST00000320736,p.V375I|ENST00000436408,p.V546I|NM_152673,p.V375I|uc010hzp.3,p.V340I|NM_001282506,p.V546I|uc010hzo.3,p.V375I	retained_intron, protein_coding, processed_transcript	uc010hzp.3	nonsynonymous SNV	exon2	c.G1018A	p.V340I	SALSVETPSYVKVSGAAPVSIEAGS	SALSVETPSYVKISGAAPVSIEAGS	1.0	1.0	-	-	2591_3:195453110-195453110 G>A_SALSVETPSYVKISGAAPVSIEAGS
7:128588330-128588330 G>A	1.0	2591	MELANOMA	-	-	-	-	IRF5	uc003voh.3,p.G400E|ENST00000477535,p.G314E|ENST00000249375,p.G400E|NM_001242452,p.G314E|NM_001098630,p.G400E|uc003voi.3,p.G400E|ENST00000357234,p.G416E|uc010llt.3,p.G314E|NM_001098629,p.G416E|uc003voj.4,p.G400E|ENST00000473745,p.G400E|NM_001098627,p.G400E|ENST00000402030,p.G400E|NM_032643,p.G400E|uc003vog.3,p.G416E	retained_intron, protein_coding, nonsense_mediated_decay	uc010llt.3	nonsynonymous SNV	exon7	c.G941A	p.G314E	NTPPPFEIFFCFGEEWPDRKPREKK	NTPPPFEIFFCFEEEWPDRKPREKK	4.0	10.0	-	-	2591_7:128588330-128588330 G>A_NTPPPFEIFFCFEEEWPDRKPREKK
9:24543307-24543307 C>T	0.0	2591	MELANOMA	-	-	-	-	IZUMO3	NM_001271706,p.E208K|ENST00000604921,p.E208K|uc031tdg.1,p.E208K|ENST00000543880,p.E214K	protein_coding	uc031tdg.1	nonsynonymous SNV	exon6	c.G622A	p.E208K	RRKMKAIRRSLKEYVEKKLEELMGK	RRKMKAIRRSLKKYVEKKLEELMGK	1.0	10.0	unscreened	-	2591_9:24543307-24543307 C>T_RRKMKAIRRSLKKYVEKKLEELMGK
X:83128851-83128851 G>A	0.0	2591	MELANOMA	-	-	ID=COSM3364115,COSM3364116;OCCURENCE=1(kidney)	-	CYLC1	NM_021118,p.D379N|ENST00000329312,p.D379N|uc004eeh.2,p.D378N|uc004eei.2,p.D379N	protein_coding	uc004eei.2	nonsynonymous SNV	exon4	c.G1135A	p.D379N	PESTDTESGDAKDARNDSRNLKKAS	PESTDTESGDAKNARNDSRNLKKAS	1.0	10.0	-	-	2591_X:83128851-83128851 G>A_PESTDTESGDAKNARNDSRNLKKAS
X:155233395-155233395 C>T	0.0	2591	MELANOMA	-	-	-	-	IL9R	ENST00000244174,p.T103I|uc010nvn.2,p.T82I|uc004fnv.1,p.T103I|NM_002186,p.T103I|ENST00000424344,p.T82I	protein_coding, processed_transcript	uc010nvn.2	nonsynonymous SNV	exon5	c.C245T	p.T82I	GTHKCILRGSECTVVLPPEAVLVPS	GTHKCILRGSECIVVLPPEAVLVPS	1.0	5.0	unscreened	-	2591_X:155233395-155233395 C>T_GTHKCILRGSECIVVLPPEAVLVPS
16:12223495-12223495 G>A	1.0	2591	MELANOMA	-	-	ID=COSM967050,COSM967049;OCCURENCE=1(endometrium)	-	SNX29	ENST00000566228,p.R492Q|uc010uyx.1,p.R134Q|ENST00000323433,p.R107Q|ENST00000306030,p.R107Q|uc002dby.5,p.R492Q|NM_032167,p.R492Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uyx.1	nonsynonymous SNV	exon6	c.G401A	p.R134Q	RKDELEEENRSLRNLLDGEMEHSAA	RKDELEEENRSLQNLLDGEMEHSAA	5.0	9.0	unscreened	-	2591_16:12223495-12223495 G>A_RKDELEEENRSLQNLLDGEMEHSAA
3:121097680-121097680 G>A	0.0	2591	MELANOMA	-	-	ID=COSM1636880;OCCURENCE=1(bone)	-	STXBP5L	NM_014980,p.R789Q|uc003eec.4,p.R789Q|uc011bji.2,p.R765Q|ENST00000273666,p.R789Q|ENST00000471454,p.R765Q|ENST00000492541,p.R789Q|ENST00000472879,p.R765Q	protein_coding, nonsense_mediated_decay	uc011bji.2	nonsynonymous SNV	exon21	c.G2294A	p.R765Q	KVNRWGPGRPPFRKAQSAACMEISL	KVNRWGPGRPPFQKAQSAACMEISL	1.0	10.0	-	-	2591_3:121097680-121097680 G>A_KVNRWGPGRPPFQKAQSAACMEISL
6:160328868-160328868 C>T	0.0	2591	MELANOMA	-	-	-	-	MAS1	uc003qsz.3,p.S294F|ENST00000252660,p.S294F|NM_002377,p.S294F	protein_coding	uc003qsz.3	nonsynonymous SNV	exon1	c.C881T	p.S294F	FVGSSKKKRFKESLKVVLTRAFKDE	FVGSSKKKRFKEFLKVVLTRAFKDE	1.0	8.0	-	-	2591_6:160328868-160328868 C>T_FVGSSKKKRFKEFLKVVLTRAFKDE
1:248308979-248308979 T>G	0.0	2591	MELANOMA	-	-	-	-	OR2M5	NM_001004690,p.F177C|ENST00000366476,p.F177C|uc010pze.2,p.F177C	protein_coding	uc010pze.2	nonsynonymous SNV	exon1	c.T530G	p.F177C	SFSYCGSREIAHFFCDFPSLLILSC	SFSYCGSREIAHCFCDFPSLLILSC	1.0	4.0	unscreened	-	2591_1:248308979-248308979 T>G_SFSYCGSREIAHCFCDFPSLLILSC
10:103899106-103899106 C>T	1.0	2591	MELANOMA	-	-	-	-	PPRC1	uc001kum.3,p.P281S|NM_015062,p.P281S|uc010qqj.2,p.P281S|NM_001288728,p.P161S|ENST00000278070,p.P281S|uc001kun.3,p.P161S|NM_001288727,p.P281S|ENST00000413464,p.P281S	protein_coding, processed_transcript	uc010qqj.2	nonsynonymous SNV	exon5	c.C841T	p.P281S	SSIPDFPMHLACPEEEDKATAAEMA	SSIPDFPMHLACSEEEDKATAAEMA	8.0	6.0	-	-	2591_10:103899106-103899106 C>T_SSIPDFPMHLACSEEEDKATAAEMA
2:179497316-179497316 C>T	0.0	2591	MELANOMA	-	-	-	-	TTN	NM_133378,p.D11905N|ENST00000342175,p.D5600N|NM_003319,p.D5408N|ENST00000591111,p.D12832N|uc021vtb.2,p.D5408N|NM_133437,p.D5600N|ENST00000342992,p.D11905N|uc021vta.2,p.D5533N|uc021vsz.2,p.D5600N|NM_133432,p.D5533N|ENST00000589042,p.D14473N|ENST00000359218,p.D5533N|uc021vsy.2,p.D11905N|uc031rqc.1,p.D14473N|NM_001267550,p.D14473N|NM_001256850,p.D12832N|uc031rqd.1,p.D12832N|ENST00000460472,p.D5408N	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon185	c.G38494A	p.D12832N	KHSMVIKSAAFEDEAKYMFEAEDKH	KHSMVIKSAAFENEAKYMFEAEDKH	1.0	8.0	unscreened	-	2591_2:179497316-179497316 C>T_KHSMVIKSAAFENEAKYMFEAEDKH
4:81791162-81791162 C>T	0.0	2591	MELANOMA	-	-	ID=COSM222034;OCCURENCE=1(large_intestine),1(skin)	-	C4orf22	NM_152770,p.R117C|uc003hmf.3,p.R117C|ENST00000358105,p.R117C	protein_coding, processed_transcript, nonsense_mediated_decay	uc003hmf.3	nonsynonymous SNV	exon4	c.C349T	p.R117C	NRSGKLSSVIFIRDRNSHGQEISGY	NRSGKLSSVIFICDRNSHGQEISGY	1.0	3.0	unscreened	-	2591_4:81791162-81791162 C>T_NRSGKLSSVIFICDRNSHGQEISGY
1:116666730-116666730 G>A	0.0	2591	MELANOMA	-	-	-	-	MAB21L3	ENST00000369500,p.G78D|uc001egc.1,p.G78D|NM_152367,p.G78D	protein_coding, processed_transcript	uc001egc.1	nonsynonymous SNV	exon4	c.G233A	p.G78D	APSQFLVTVPIKGLAGYREAREQHW	APSQFLVTVPIKDLAGYREAREQHW	1.0	4.0	unscreened	-	2591_1:116666730-116666730 G>A_APSQFLVTVPIKDLAGYREAREQHW
16:28890397-28890397 C>T	1.0	2591	MELANOMA	-	-	-	-	ATP2A1-AS1	uc031qvi.1,p.R79K	protein_coding, processed_transcript, nonsense_mediated_decay	uc031qvi.1	nonsynonymous SNV	exon2	c.G236A	p.R79K	EEQGALPRKKKKRTDSFGVQPHAPH	EEQGALPRKKKKKTDSFGVQPHAPH	4.0	1.0	unscreened	-	2591_16:28890397-28890397 C>T_EEQGALPRKKKKKTDSFGVQPHAPH
16:28890397-28890397 C>T	1.0	2591	MELANOMA	-	-	-	-	ATP2A1-AS1	uc031qvh.1,p.R78K	protein_coding, processed_transcript, nonsense_mediated_decay	uc031qvh.1	nonsynonymous SNV	exon2	c.G233A	p.R78K	GEEGALPRKKKKRTDSFGVQPHAPH	GEEGALPRKKKKKTDSFGVQPHAPH	4.0	1.0	unscreened	-	2591_16:28890397-28890397 C>T_GEEGALPRKKKKKTDSFGVQPHAPH
16:76389314-76389314 G>A	0.0	2591	MELANOMA	-	-	ID=COSM704076,COSM704077,COSM704078;OCCURENCE=1(lung)	-	CNTNAP4	uc002feu.1,p.G98E	retained_intron, protein_coding, processed_transcript, TEC	uc002feu.1	nonsynonymous SNV	exon4	c.G293A	p.G98E	GERMEVTAVATQGGYGSSNWVTSYL	GERMEVTAVATQEGYGSSNWVTSYL	1.0	8.0	unscreened	-	2591_16:76389314-76389314 G>A_GERMEVTAVATQEGYGSSNWVTSYL
11:6530417-6530417 G>A	0.0	2591	MELANOMA	-	-	-	-	DNHD1	ENST00000527990,p.G384R|ENST00000354685,p.G384R|uc001mdq.3,p.G73R|uc001mdw.4,p.G384R|NM_173589,p.G384R|NM_144666,p.G384R|ENST00000254579,p.G384R|uc001mdp.3,p.G384R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001mdw.4	nonsynonymous SNV	exon6	c.G1150A	p.G384R	SFTCWKKNVRLQGLHRLQKFLENHL	SFTCWKKNVRLQRLHRLQKFLENHL	3.0	5.0	-	-	2591_11:6530417-6530417 G>A_SFTCWKKNVRLQRLHRLQKFLENHL
2:233243689-233243689 G>A	0.0	2591	MELANOMA	-	-	-	-	ALPP	NM_001632,p.E29K|uc002vsq.3,p.E29K|ENST00000392027,p.E29K	retained_intron, protein_coding	uc002vsq.3	nonsynonymous SNV	exon2	c.G85A	p.E29K	LQLSLGIIPVEEENPDFWNREAAEA	LQLSLGIIPVEEKNPDFWNREAAEA	1.0	9.0	-	-	2591_2:233243689-233243689 G>A_LQLSLGIIPVEEKNPDFWNREAAEA
19:52002433-52002433 C>T	0.0	2591	MELANOMA	-	-	-	-	SIGLEC12	ENST00000598614,p.D258N|ENST00000291707,p.D376N|NM_033329,p.D258N|NM_053003,p.D376N|uc002pwx.1,p.D376N|uc010eoy.1,p.D103N|uc002pww.1,p.D258N	protein_coding, nonsense_mediated_decay	uc010eoy.1	nonsynonymous SNV	exon4	c.G307A	p.D103N	PPQNLTMTVFQGDGTASTTLRNGSA	PPQNLTMTVFQGNGTASTTLRNGSA	1.0	9.0	-	-	2591_19:52002433-52002433 C>T_PPQNLTMTVFQGNGTASTTLRNGSA
4:81791162-81791162 C>T	0.0	2591	MELANOMA	-	-	ID=COSM222034;OCCURENCE=1(large_intestine),1(skin)	-	C4orf22	ENST00000508675,p.R134C|NM_001206997,p.R134C|uc010ijp.3,p.R134C	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ijp.3	nonsynonymous SNV	exon5	c.C400T	p.R134C	ILKKQLASVIFIRDRNSHGQEISGY	ILKKQLASVIFICDRNSHGQEISGY	1.0	3.0	unscreened	-	2591_4:81791162-81791162 C>T_ILKKQLASVIFICDRNSHGQEISGY
15:27571956-27571956 G>A	0.0	2591	MELANOMA	-	-	-	-	GABRG3	NM_033223,p.E91K|uc001zbf.4,p.E91K|ENST00000555083,p.E91K|uc001zbg.2,p.E91K|ENST00000333743,p.E91K|NM_001270873,p.E91K	retained_intron, protein_coding, processed_transcript	uc001zbg.2	nonsynonymous SNV	exon4	c.G271A	p.E91K	VNSIGPVSSINMEYQIDIFFAQTWT	VNSIGPVSSINMKYQIDIFFAQTWT	1.0	1.0	-	-	2591_15:27571956-27571956 G>A_VNSIGPVSSINMKYQIDIFFAQTWT
2:1094067-1094067 T>C	0.0	2591	MELANOMA	-	-	-	-	SNTG2	ENST00000450962,p.V99A|ENST00000452177,p.V99A	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000452177	nonsynonymous SNV	exon4	c.T296C	p.V99A	SIKGGSEHNVPVVISKIFEDQADGV	SIKGGSEHNVPVAISKIFEDQADGV	1.0	7.0	unscreened	-	2591_2:1094067-1094067 T>C_SIKGGSEHNVPVAISKIFEDQADGV
7:140223218-140223218 C>T	0.0	2591	MELANOMA	-	-	-	-	DENND2A	ENST00000275884,p.D852N|ENST00000496613,p.D852N|uc010lnj.3,p.D852N|NM_015689,p.D852N|uc003vvw.3,p.D852N|ENST00000537639,p.D852N|uc010lnk.3,p.D852N	protein_coding, nonsense_mediated_decay	uc010lnk.3	nonsynonymous SNV	exon17	c.G2554A	p.D852N	DLVNSRFLRQMDDEDSILPRKLQVA	DLVNSRFLRQMDNEDSILPRKLQVA	1.0	9.0	-	-	2591_7:140223218-140223218 C>T_DLVNSRFLRQMDNEDSILPRKLQVA
14:94936060-94936060 G>A	0.0	2591	MELANOMA	-	-	-	-	SERPINA9	ENST00000538527,p.P85L	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000538527	nonsynonymous SNV	exon2	c.C254T	p.P85L	QCIPPPFLHKEHPCLTGVFPQHRLC	QCIPPPFLHKEHLCLTGVFPQHRLC	1.0	6.0	unscreened	-	2591_14:94936060-94936060 G>A_QCIPPPFLHKEHLCLTGVFPQHRLC
22:42385598-42385598 G>T	1.0	2591	MELANOMA	-	-	-	-	SEPT3	uc010gys.3,p.M1I	retained_intron, protein_coding, nonsense_mediated_decay	uc010gys.3	nonsynonymous SNV	exon4	c.G3T	p.M1I	MKHLSKELEVNGI	IKHLSKELEVNGI	8.0	9.0	unscreened	-	2591_22:42385598-42385598 G>T_IKHLSKELEVNGI
16:28890396-28890396 C>T	1.0	2591	MELANOMA	-	-	-	-	ATP2A1-AS1	uc031qvk.1,p.D62N	protein_coding, processed_transcript, nonsense_mediated_decay	uc031qvk.1	nonsynonymous SNV	exon2	c.G184A	p.D62N	GAGSSTQEKEEKDRFIWGSASCPPH	GAGSSTQEKEEKNRFIWGSASCPPH	4.0	1.0	unscreened	-	2591_16:28890396-28890396 C>T_GAGSSTQEKEEKNRFIWGSASCPPH
16:28890396-28890396 C>T	1.0	2591	MELANOMA	-	-	-	-	ATP2A1-AS1	uc031qvj.1,p.D61N	protein_coding, processed_transcript, nonsense_mediated_decay	uc031qvj.1	nonsynonymous SNV	exon2	c.G181A	p.D61N	PGGSSTQEKEEKDRFIWGSASCPPH	PGGSSTQEKEEKNRFIWGSASCPPH	4.0	1.0	unscreened	-	2591_16:28890396-28890396 C>T_PGGSSTQEKEEKNRFIWGSASCPPH
1:9063447-9063447 C>T	0.0	2591	MELANOMA	-	-	-	-	SLC2A7	ENST00000400906,p.R484K|NM_207420,p.R484K|uc009vmo.1,p.R484K	protein_coding	uc009vmo.1	nonsynonymous SNV	exon12	c.G1451A	p.R484K	KTFVEINRIFAKRNRVKLPEEKEET	KTFVEINRIFAKKNRVKLPEEKEET	1.0	4.0	-	-	2591_1:9063447-9063447 C>T_KTFVEINRIFAKKNRVKLPEEKEET
1:102290701-102290701 C>T	0.0	2591	MELANOMA	-	-	-	-	OLFM3	NM_058170,p.R158K|ENST00000536598,p.R83K|ENST00000370103,p.R158K|uc001dug.2,p.R158K|uc001duf.2,p.R178K|uc001duj.2,p.R83K|ENST00000338858,p.R178K|ENST00000359814,p.R178K|NM_001288823,p.R83K|NM_001288821,p.R178K	protein_coding, processed_transcript	uc001duj.2	nonsynonymous SNV	exon5	c.G248A	p.R83K	DAKLITQFKEEIRNLSAVLTGIQEE	DAKLITQFKEEIKNLSAVLTGIQEE	1.0	9.0	-	-	2591_1:102290701-102290701 C>T_DAKLITQFKEEIKNLSAVLTGIQEE
11:1092973-1092973 C>T	0.0	2591	MELANOMA	-	-	-	-	MUC2	ENST00000441003,p.P1598S	protein_coding	ENST00000441003	nonsynonymous SNV	exon30	c.C4792T	p.P1598S	ITTTTTVTPTPTPTGTQTPTTTPIT	ITTTTTVTPTPTSTGTQTPTTTPIT	1.0	1.0	unscreened	-	2591_11:1092973-1092973 C>T_ITTTTTVTPTPTSTGTQTPTTTPIT
1:23111426-23111426 G>A	0.0	2591	MELANOMA	-	-	-	-	EPHB2	NM_004442,p.R223Q|uc009vqj.1,p.R223Q|ENST00000374632,p.R223Q|uc010odu.2,p.R223Q|ENST00000374627,p.R217Q|ENST00000400191,p.R223Q|uc001bgf.3,p.R223Q|ENST00000374630,p.R223Q|NM_017449,p.R223Q|ENST00000544305,p.R223Q|uc001bge.3,p.R223Q	protein_coding, processed_transcript	uc010odu.2	nonsynonymous SNV	exon4	c.G668A	p.R223Q	LSGAESTSLVAARGSCIANAEEVDV	LSGAESTSLVAAQGSCIANAEEVDV	1.0	9.0	unscreened	-	2591_1:23111426-23111426 G>A_LSGAESTSLVAAQGSCIANAEEVDV
11:1093232-1093232 T>G	0.0	2591	MELANOMA	-	-	-	-	MUC2	ENST00000359061,p.V1651G|ENST00000441003,p.V1684G	protein_coding	ENST00000441003	nonsynonymous SNV	exon30	c.T5051G	p.V1684G	SPTPTAITTTTTVTPTPTPTGTQTP	SPTPTAITTTTTGTPTPTPTGTQTP	1.0	1.0	unscreened	-	2591_11:1093232-1093232 T>G_SPTPTAITTTTTGTPTPTPTGTQTP
2:33412001-33412001 G>A	0.0	2591	MELANOMA	-	-	ID=COSM1690448,COSM1690447;OCCURENCE=1(skin)	-	LTBP1	uc021vft.1,p.G427E|NM_000627,p.G101E|uc002rov.3,p.G101E|ENST00000407925,p.G101E|ENST00000404816,p.G427E|ENST00000390003,p.G101E|uc010yna.2,p.G101E|NM_001166266,p.G101E|NM_001166264,p.G101E|ENST00000354476,p.G427E|uc010ymz.2,p.G101E|ENST00000432635,p.G20E|ENST00000418533,p.G101E|ENST00000404525,p.G101E|ENST00000402934,p.G101E|uc002rou.3,p.G101E|NM_001166265,p.G101E|NM_206943,p.G427E	protein_coding, processed_transcript	uc021vft.1	nonsynonymous SNV	exon6	c.G1280A	p.G427E	SRDKCQCPPNFTGKLCQIPVHGASV	SRDKCQCPPNFTEKLCQIPVHGASV	3.0	3.0	-	-	2591_2:33412001-33412001 G>A_SRDKCQCPPNFTEKLCQIPVHGASV
16:82104663-82104663 G>A	0.0	2591	MELANOMA	-	-	-	-	HSD17B2	ENST00000199936,p.V199I|ENST00000566838,p.V75I|NM_002153,p.V199I|ENST00000569351,p.V127I|uc002fgv.3,p.V199I|ENST00000568090,p.V63I	protein_coding, TEC	uc002fgv.3	nonsynonymous SNV	exon3	c.G595A	p.V199I	QCMAVNFFGTVEVTKTFLPLLRKSK	QCMAVNFFGTVEITKTFLPLLRKSK	1.0	2.0	-	-	2591_16:82104663-82104663 G>A_QCMAVNFFGTVEITKTFLPLLRKSK
17:79954696-79954696 C>A	1.0	2591	MELANOMA	-	-	-	1	ASPSCR1	uc002kcx.3,p.P303T|ENST00000580534,p.P226T|uc002kdb.1,p.P226T|ENST00000584454,p.P226T|NM_001251888,p.P303T|ENST00000306739,p.P303T|uc021ufj.1,p.P226T|uc002kda.3,p.P226T|ENST00000582355,p.P132T|ENST00000306729,p.P303T|uc002kcy.3,p.P303T|NM_024083,p.P303T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ufj.1	nonsynonymous SNV	exon6	c.C676A	p.P226T	PQQEQEQERERDPQQEQERERPVDR	PQQEQEQERERDTQQEQERERPVDR	9.0	9.0	-	-	2591_17:79954696-79954696 C>A_PQQEQEQERERDTQQEQERERPVDR
11:1092973-1092973 C>T	0.0	2591	MELANOMA	-	-	-	-	MUC2	NM_002457,p.P1598S|uc001lsx.1,p.P1598S	protein_coding	uc001lsx.1	nonsynonymous SNV	exon31	c.C4792T	p.P1598S	PSPPTITTTTPPPTTTPSPPTTTTT	PSPPTITTTTPPSTTTPSPPTTTTT	1.0	1.0	unscreened	-	2591_11:1092973-1092973 C>T_PSPPTITTTTPPSTTTPSPPTTTTT
22:26164460-26164460 G>A	0.0	2591	MELANOMA	-	-	-	-	MYO18B	uc010guz.1,p.G74R|ENST00000536101,p.G193R|uc003aca.1,p.G74R|NM_032608,p.G193R|uc010guy.1,p.G74R|ENST00000407587,p.G193R|uc003abz.1,p.G193R|ENST00000539302,p.G193R|ENST00000335473,p.G193R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010guz.1	nonsynonymous SNV	exon2	c.G220A	p.G74R	SPPATDTGKEKKGETSRTPCGSQAS	SPPATDTGKEKKRETSRTPCGSQAS	1.0	1.0	-	-	2591_22:26164460-26164460 G>A_SPPATDTGKEKKRETSRTPCGSQAS
2:1094067-1094067 T>C	0.0	2591	MELANOMA	-	-	-	-	SNTG2	uc002qwq.3,p.V99A|NM_018968,p.V99A|ENST00000308624,p.V99A	protein_coding, processed_transcript, nonsense_mediated_decay	uc002qwq.3	nonsynonymous SNV	exon4	c.T296C	p.V99A	SIKGGSEHNVPVVISKIFEDQAADQ	SIKGGSEHNVPVAISKIFEDQAADQ	1.0	7.0	-	-	2591_2:1094067-1094067 T>C_SIKGGSEHNVPVAISKIFEDQAADQ
22:30921646-30921646 G>A	0.0	2591	MELANOMA	-	-	-	-	SEC14L6	uc021wnu.1,p.S288F|ENST00000402034,p.S288F|NM_001193336,p.S288F	protein_coding	uc021wnu.1	nonsynonymous SNV	exon10	c.C863T	p.S288F	LQYEHTRSVGRGSSLQVENEILFPG	LQYEHTRSVGRGFSLQVENEILFPG	1.0	2.0	unscreened	-	2591_22:30921646-30921646 G>A_LQYEHTRSVGRGFSLQVENEILFPG
3:10379973-10379973 C>T	0.0	2591	MELANOMA	-	-	-	-	ATP2B2	NM_001683,p.E1058K|NM_001001331,p.E1103K|uc003bvt.3,p.E1103K|ENST00000383800,p.E1058K|ENST00000397077,p.E1058K|uc003bvv.3,p.E1058K|uc003bvw.3,p.E1058K|ENST00000352432,p.E1103K|ENST00000452124,p.E959K|ENST00000343816,p.E1089K|uc010hdo.3,p.E808K|ENST00000460129,p.E1058K|ENST00000360273,p.E1103K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hdo.3	nonsynonymous SNV	exon18	c.G2422A	p.E808K	FLKEAGRLTQKEEIPEEELNEDVEE	FLKEAGRLTQKEKIPEEELNEDVEE	1.0	9.0	-	-	2591_3:10379973-10379973 C>T_FLKEAGRLTQKEKIPEEELNEDVEE
2:188245276-188245276 C>T	0.0	2591	MELANOMA	-	-	-	-	CALCRL	ENST00000410068,p.G109E|uc010frt.4,p.G109E|ENST00000392370,p.G109E|NM_001271751,p.G109E|ENST00000409998,p.G109E|NM_005795,p.G109E|uc002upv.5,p.G109E	retained_intron, protein_coding, processed_transcript	uc010frt.4	nonsynonymous SNV	exon6	c.G326A	p.G109E	PSEKVTKICDQDGNWFRHPASNRTW	PSEKVTKICDQDENWFRHPASNRTW	1.0	9.0	-	-	2591_2:188245276-188245276 C>T_PSEKVTKICDQDENWFRHPASNRTW
14:92491728-92491728 C>T	0.0	2591	MELANOMA	-	-	ID=COSM553972;OCCURENCE=1(lung)	1	TRIP11	NM_004239,p.E80K|ENST00000267622,p.E80K|uc001xzy.3,p.E80K	protein_coding, processed_transcript, nonsense_mediated_decay	uc001xzy.3	nonsynonymous SNV	exon3	c.G238A	p.E80K	NERLKKLCTDLEEKHEASEIQIKQQ	NERLKKLCTDLEKKHEASEIQIKQQ	6.0	3.0	-	-	2591_14:92491728-92491728 C>T_NERLKKLCTDLEKKHEASEIQIKQQ
2:85043192-85043192 A>G	0.0	2591	MELANOMA	-	-	-	-	DNAH6	uc010fgb.3,p.T4120A|NM_001370,p.T4120A|ENST00000237449,p.T4120A|ENST00000389394,p.T4120A	retained_intron, protein_coding, processed_transcript	uc010fgb.3	nonsynonymous SNV	exon76	c.A12358G	p.T4120A	HCPLYKTGARAGTLSTTGHSTNFVV	HCPLYKTGARAGALSTTGHSTNFVV	1.0	8.0	-	-	2591_2:85043192-85043192 A>G_HCPLYKTGARAGALSTTGHSTNFVV
3:52547920-52547920 G>A	0.0	2591	MELANOMA	-	-	-	-	STAB1	uc003dej.3,p.D1124N|NM_015136,p.D1124N|ENST00000321725,p.D1124N	retained_intron, protein_coding	uc003dej.3	nonsynonymous SNV	exon32	c.G3370A	p.D1124N	HILSQVLLPPRGDVPGGQGLLQQLD	HILSQVLLPPRGNVPGGQGLLQQLD	2.0	9.0	-	-	2591_3:52547920-52547920 G>A_HILSQVLLPPRGNVPGGQGLLQQLD
12:111356916-111356916 A>T	0.0	2591	MELANOMA	-	-	-	-	MYL2	ENST00000228841,p.F29I|uc001try.4,p.F29I|NM_000432,p.F29I	retained_intron, protein_coding	uc001try.4	nonsynonymous SNV	exon2	c.T85A	p.F29I	VFSMFEQTQIQEFKEAFTIMDQNRD	VFSMFEQTQIQEIKEAFTIMDQNRD	1.0	5.0	-	-	2591_12:111356916-111356916 A>T_VFSMFEQTQIQEIKEAFTIMDQNRD
6:123539823-123539823 G>A	0.0	2591	MELANOMA	-	-	-	-	TRDN	ENST00000334268,p.P697S|uc010kem.2,p.P206S|ENST00000398178,p.P705S|NM_006073,p.P705S|uc003pzj.2,p.P705S	protein_coding	uc010kem.2	nonsynonymous SNV	exon28	c.C616T	p.P206S	YLDGYNGYGFQFPFTPADRPGESSG	YLDGYNGYGFQFSFTPADRPGESSG	1.0	7.0	-	-	2591_6:123539823-123539823 G>A_YLDGYNGYGFQFSFTPADRPGESSG
22:42609808-42609808 C>T	1.0	2591	MELANOMA	-	-	-	-	TCF20	NM_005650,p.E502K|ENST00000359486,p.E502K|NM_181492,p.E502K|uc003bcj.1,p.E502K|ENST00000335626,p.E502K|uc003bck.1,p.E502K	protein_coding	uc003bck.1	nonsynonymous SNV	exon1	c.G1504A	p.E502K	SSSKKADSCTNSEGSSQPEEQLKSP	SSSKKADSCTNSKGSSQPEEQLKSP	7.0	9.0	-	-	2591_22:42609808-42609808 C>T_SSSKKADSCTNSKGSSQPEEQLKSP
19:9077143-9077143 C>A	0.0	2591	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.G3435W|NM_024690,p.G3435W|uc002mkp.3,p.G3435W	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.G10303T	p.G3435W	YSSTSSWSDQTSGSDITLGASPDVT	YSSTSSWSDQTSWSDITLGASPDVT	1.0	7.0	unscreened	-	2591_19:9077143-9077143 C>A_YSSTSSWSDQTSWSDITLGASPDVT
14:72055665-72055665 C>T	0.0	2591	MELANOMA	-	-	-	-	SIPA1L1	ENST00000555818,p.T359I|ENST00000381232,p.T359I|ENST00000358550,p.T359I|uc001xmv.3,p.T359I|NM_001284245,p.T359I|NM_001284246,p.T359I|uc001xmu.3,p.T359I|NM_001284247,p.T359I|uc001xmt.3,p.T359I|NM_015556,p.T359I|uc001xms.3,p.T359I	retained_intron, protein_coding, processed_transcript	uc001xmv.3	nonsynonymous SNV	exon1	c.C1076T	p.T359I	IMNRHNVIKRRNTTTGASAAAVASL	IMNRHNVIKRRNITTGASAAAVASL	7.0	3.0	-	-	2591_14:72055665-72055665 C>T_IMNRHNVIKRRNITTGASAAAVASL
7:138444594-138444594 C>G	0.0	2591	MELANOMA	-	-	-	-	ATP6V0A4	uc003vuh.3,p.R181T|ENST00000353492,p.R181T|ENST00000393054,p.R181T|uc003vuf.3,p.R181T|NM_130840,p.R181T|uc003vug.3,p.R181T|NM_020632,p.R181T|NM_130841,p.R181T|ENST00000310018,p.R181T	retained_intron, protein_coding, processed_transcript	uc003vuh.3	nonsynonymous SNV	exon7	c.G542C	p.R181T	KLGFIAGVINRERMASFERLLWRIC	KLGFIAGVINRETMASFERLLWRIC	1.0	5.0	-	-	2591_7:138444594-138444594 C>G_KLGFIAGVINRETMASFERLLWRIC
6:47661452-47661452 T>G	0.0	2591	MELANOMA	-	-	-	-	GPR111	uc003oyz.1,p.V66G|ENST00000371220,p.V66G	protein_coding	uc003oyz.1	nonsynonymous SNV	exon2	c.T197G	p.V66G	LLNYLVIPSKAQVNKPGYIPNLGEC	LLNYLVIPSKAQGNKPGYIPNLGEC	1.0	9.0	-	-	2591_6:47661452-47661452 T>G_LLNYLVIPSKAQGNKPGYIPNLGEC
20:23066220-23066220 G>A	0.0	2591	MELANOMA	-	-	ID=COSM1721668;OCCURENCE=2(NS)	-	CD93	NM_012072,p.P204S|uc002wsv.3,p.P204S|ENST00000246006,p.P204S	protein_coding	uc002wsv.3	nonsynonymous SNV	exon1	c.C610T	p.P204S	ALGGPGQVTYTTPFQTTSSSLEAVP	ALGGPGQVTYTTSFQTTSSSLEAVP	1.0	7.0	-	-	2591_20:23066220-23066220 G>A_ALGGPGQVTYTTSFQTTSSSLEAVP
12:70963625-70963625 G>A	0.0	2591	MELANOMA	-	-	-	1	PTPRB	uc001swa.4,p.S1067F|ENST00000261266,p.S937F|ENST00000451516,p.S847F|uc001swb.4,p.S937F|NM_002837,p.S937F|NM_001109754,p.S1155F|NM_001206971,p.S847F|uc001swc.4,p.S1155F|ENST00000551525,p.S1154F|ENST00000550857,p.S847F|ENST00000548122,p.S1034F|ENST00000538708,p.S937F|ENST00000334414,p.S1155F|uc010stp.2,p.S847F|ENST00000550358,p.S1067F|uc010sto.2,p.S937F|NM_001206972,p.S937F|uc009zrr.2,p.S1034F|uc001swd.4,p.S1154F	retained_intron, protein_coding, processed_transcript	uc010stp.2	nonsynonymous SNV	exon11	c.C2540T	p.S847F	TVNWTPGGGDVDSYTVSAFRHSQKV	TVNWTPGGGDVDFYTVSAFRHSQKV	4.0	7.0	-	-	2591_12:70963625-70963625 G>A_TVNWTPGGGDVDFYTVSAFRHSQKV
12:5915235-5915235 C>T	0.0	2591	MELANOMA	-	-	-	-	ANO2	NM_001278597,p.D322N|ENST00000546188,p.D322N|uc001qnm.2,p.D321N|ENST00000356134,p.D322N|ENST00000327087,p.D321N|NM_001278596,p.D326N	protein_coding, processed_transcript	uc001qnm.2	nonsynonymous SNV	exon9	c.G961A	p.D321N	PLHDGEYDSPEDDMNDRKLLYQEWA	PLHDGEYDSPEDNMNDRKLLYQEWA	1.0	3.0	unscreened	-	2591_12:5915235-5915235 C>T_PLHDGEYDSPEDNMNDRKLLYQEWA
8:91075333-91075333 C>T	0.0	2591	MELANOMA	-	-	-	-	CALB1	NM_004929,p.D199N|ENST00000265431,p.D199N|uc003yel.1,p.D199N|uc011lge.1,p.D142N|ENST00000518457,p.D142N	retained_intron, protein_coding	uc011lge.1	nonsynonymous SNV	exon8	c.G424A	p.D142N	CGKEFNKAFELYDQDGNGYIDENEL	CGKEFNKAFELYNQDGNGYIDENEL	1.0	7.0	-	-	2591_8:91075333-91075333 C>T_CGKEFNKAFELYNQDGNGYIDENEL
3:10347246-10347246 C>G	1.0	2591	MELANOMA	-	-	-	-	SEC13	ENST00000337354,p.W197S|uc003bvo.3,p.W240S|uc003bvm.3,p.W180S|ENST00000397117,p.W180S|uc003bvp.3,p.W197S|uc003bvr.1,p.W180S|NM_030673,p.W197S|NM_001136232,p.W180S|uc003bvn.3,p.W194S|ENST00000350697,p.W194S|uc003bvl.3,p.W126S|NM_001136026,p.W240S|NM_183352,p.W194S|ENST00000397109,p.W180S|ENST00000383801,p.W240S	retained_intron, protein_coding, processed_transcript	uc003bvr.1	nonsynonymous SNV	exon5	c.G539C	p.W180S	FASGGCDNLIKLWKEEEDGQWKEEQ	FASGGCDNLIKLSKEEEDGQWKEEQ	10.0	7.0	-	-	2591_3:10347246-10347246 C>G_FASGGCDNLIKLSKEEEDGQWKEEQ
16:3065461-3065461 C>T	0.0	2591	MELANOMA	-	-	-	-	CLDN6	uc021tbb.1,p.G188R|ENST00000396925,p.G188R|NM_021195,p.G188R|uc002csu.4,p.G188R|ENST00000328796,p.G188R	protein_coding, nonsense_mediated_decay	uc021tbb.1	nonsynonymous SNV	exon1	c.G562A	p.G188R	LGGGLLCCTCPSGGSQGPSHYMARY	LGGGLLCCTCPSRGSQGPSHYMARY	1.0	7.0	-	-	2591_16:3065461-3065461 C>T_LGGGLLCCTCPSRGSQGPSHYMARY
15:27571956-27571956 G>A	0.0	2591	MELANOMA	-	-	-	-	GABRG3	ENST00000554696,p.E33K	retained_intron, protein_coding, processed_transcript	ENST00000554696	nonsynonymous SNV	exon2	c.G97A	p.E33K	SQSQTWQENKLSEYQIDIFFAQTWT	SQSQTWQENKLSKYQIDIFFAQTWT	1.0	1.0	unscreened	-	2591_15:27571956-27571956 G>A_SQSQTWQENKLSKYQIDIFFAQTWT
12:111356916-111356916 A>T	0.0	2591	MELANOMA	-	-	-	-	MYL2	ENST00000548438,p.F29I	retained_intron, protein_coding	ENST00000548438	nonsynonymous SNV	exon2	c.T85A	p.F29I	VFSMFEQTQIQEFKELGVPECVFPT	VFSMFEQTQIQEIKELGVPECVFPT	1.0	5.0	unscreened	-	2591_12:111356916-111356916 A>T_VFSMFEQTQIQEIKELGVPECVFPT
18:31325055-31325055 C>A	0.0	2591	MELANOMA	-	-	-	-	ASXL3	uc002kxq.2,p.P1455Q|uc010dmg.1,p.P1748Q|NM_030632,p.P1748Q|ENST00000269197,p.P1748Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dmg.1	nonsynonymous SNV	exon12	c.C5243A	p.P1748Q	SGCRLSSVEANNPLVTQLLQGNLPL	SGCRLSSVEANNQLVTQLLQGNLPL	1.0	7.0	unscreened	-	2591_18:31325055-31325055 C>A_SGCRLSSVEANNQLVTQLLQGNLPL
17:46865272-46865272 T>G	0.0	2591	MELANOMA	-	-	-	-	TTLL6	ENST00000433608,p.Y190S|ENST00000393382,p.Y497S|NM_001130918,p.Y497S|uc002iob.3,p.Y190S|uc002ioc.3,p.Y250S|uc002iod.3,p.Y344S|uc021tzm.1,p.Y497S|ENST00000416950,p.Y175S|NM_173623,p.Y190S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tzm.1	nonsynonymous SNV	exon11	c.A1490C	p.Y497S	YEKENCGGFRLIYPSLNSEKYEKFF	YEKENCGGFRLISPSLNSEKYEKFF	1.0	6.0	unscreened	-	2591_17:46865272-46865272 T>G_YEKENCGGFRLISPSLNSEKYEKFF
3:36940702-36940702 C>T	0.0	2591	MELANOMA	-	-	-	-	TRANK1	uc003cgj.3,p.E67K|ENST00000429976,p.E67K|NM_014831,p.E67K	protein_coding, processed_transcript	uc003cgj.3	nonsynonymous SNV	exon3	c.G199A	p.E67K	AGYSLLRLHQPYEAARMFFEGLRLV	AGYSLLRLHQPYKAARMFFEGLRLV	4.0	3.0	unscreened	-	2591_3:36940702-36940702 C>T_AGYSLLRLHQPYKAARMFFEGLRLV
X:6452121-6452121 G>A	0.0	2591	MELANOMA	-	-	-	-	VCX3A	ENST00000381089,p.P76S|uc010ndk.2,p.P76S|uc004crs.3,p.P76S|uc022bsg.1,p.P76S|ENST00000398729,p.P76S|NM_016379,p.P76S	protein_coding	uc022bsg.1	nonsynonymous SNV	exon2	c.C226T	p.P76S	APEAESGPAAPGPSDQPSQELPQHE	APEAESGPAAPGSSDQPSQELPQHE	1.0	2.0	unscreened	-	2591_X:6452121-6452121 G>A_APEAESGPAAPGSSDQPSQELPQHE
17:39346595-39346595 ->GCTGTGGGTCCAGCTGCTGCCAGCCTA	0.0	2591	MELANOMA	-	-	-	-	KRTAP9-1	ENST00000318329,p.C70delinsCCGSSCCQPS|NM_001190460,p.C153delinsCCGSSCCQPS|ENST00000398470,p.C153delinsCCGSSCCQPS|uc021txf.1,p.C153delinsCCGSSCCQPS	protein_coding	uc021txf.1	nonframeshift insertion	exon1	c.457_458insGCTGTGGGTCCAGCTGCTGCCAGCCTA	p.C153delinsCCGSSCCQPS	PTCCRNTSCQPTCCGSSCCQPCCHP	PTCCRNTSCQPTCCGSSCCQPSCGS	1.0	1.0	unscreened	-	2591_17:39346595-39346595 ->GCTGTGGGTCCAGCTGCTGCCAGCCTA_PTCCRNTSCQPTCCGSSCCQPSCGS
7:2962271-2962271 C>T	0.0	2591	MELANOMA	-	-	ID=COSM1292494;OCCURENCE=1(skin),1(haematopoietic_and_lymphoid_tissue)	1	CARD11	NM_032415,p.E756K|ENST00000355508,p.E227K|uc003smv.3,p.E756K|ENST00000396946,p.E756K	retained_intron, protein_coding	uc003smv.3	nonsynonymous SNV	exon17	c.G2266A	p.E756K	SGPVTLHYKVNHEGYRKLVKDMEDG	SGPVTLHYKVNHKGYRKLVKDMEDG	1.0	2.0	-	-	2591_7:2962271-2962271 C>T_SGPVTLHYKVNHKGYRKLVKDMEDG
1:153907294-153907294 ->TGT	0.0	2591	MELANOMA	-	-	-	-	DENND4B	ENST00000361217,p.Q905delinsQQ|NM_014856,p.Q905delinsQQ|uc001fdd.1,p.Q905delinsQQ	retained_intron, protein_coding, processed_transcript	uc001fdd.1	nonframeshift insertion	exon18	c.2714_2715insACA	p.Q905delinsQQ	ERQQQQQQQQQQQQQQQQEQVSAHQ	ERQQQQQQQQQQQQQQQQQEQVSAH	7.0	2.0	unscreened	-	2591_1:153907294-153907294 ->TGT_ERQQQQQQQQQQQQQQQQQEQVSAH
5:180651432-180651446 CTGAGGGGGGAGGAT>-	1.0	2591	MELANOMA	-	-	-	-	TRIM41	NM_033549,p.145_149del|uc003mnd.2,p.145_149del|ENST00000315073,p.145_149del|uc003mne.2,p.145_149del|ENST00000351937,p.145_149del|uc003mnc.2,p.145_149del|NM_201627,p.145_149del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003mne.2	nonframeshift deletion	exon1	c.433_447del	p.145_149del	LDYYLGDMEEEDLRGEDEEDEEEVL	LDYYLGDMEEEDEEDEEEVLEEVEE	7.0	2.0	unscreened	-	2591_5:180651432-180651446 CTGAGGGGGGAGGAT>-_LDYYLGDMEEEDEEDEEEVLEEVEE
2:179398057-179398057 C>T	0.0	2591	MELANOMA	-	-	-	-	TTN	NM_133378,p.E31861K|uc031rqc.1,p.E34429K|NM_003319,p.E25364K|ENST00000359218,p.E25489K|NM_001256850,p.E32788K|uc031rqd.1,p.E32788K|uc021vtb.2,p.E25364K|uc021vsy.2,p.E31861K|NM_133437,p.E25556K|ENST00000460472,p.E25364K|uc021vta.2,p.E25489K|NM_133432,p.E25489K|NM_001267550,p.E34429K|uc021vsz.2,p.E25556K|ENST00000342992,p.E31861K|ENST00000342175,p.E25556K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon308	c.G98362A	p.E32788K	DYYALHIRDTLPEDTGYYRVTATNT	DYYALHIRDTLPKDTGYYRVTATNT	1.0	5.0	-	-	2591_2:179398057-179398057 C>T_DYYALHIRDTLPKDTGYYRVTATNT
5:160721382-160721382 C>T	0.0	2591	MELANOMA	-	-	-	-	GABRB2	uc003lys.1,p.M415I|ENST00000517901,p.M314I|ENST00000393959,p.M415I|ENST00000274547,p.M415I|ENST00000517547,p.M217I|ENST00000520240,p.M377I|uc011deh.1,p.M216I|uc003lyt.1,p.M377I|uc003lyr.1,p.M377I|ENST00000353437,p.M377I|NM_000813,p.M377I|NM_021911,p.M415I	retained_intron, protein_coding, processed_transcript	uc011deh.1	nonsynonymous SNV	exon7	c.G648A	p.M216I	NILLSTLEIKNEMATSEAVMGLGDP	NILLSTLEIKNEIATSEAVMGLGDP	1.0	4.0	-	-	2591_5:160721382-160721382 C>T_NILLSTLEIKNEIATSEAVMGLGDP
19:41386486-41386486 C>A	0.0	2591	MELANOMA	-	-	-	-	CYP2A7	ENST00000594332,p.L76F	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000594332	nonsynonymous SNV	exon2	c.G228T	p.L76F	SATGSAPSSSCALPSPP	SATGSAPSSSCAFPSPP	1.0	2.0	unscreened	-	2591_19:41386486-41386486 C>A_SATGSAPSSSCAFPSPP
6:74104776-74104776 C>T	0.0	2591	MELANOMA	-	-	-	-	DDX43	NM_018665,p.R50C|ENST00000370336,p.R50C|ENST00000539829,p.R50C|uc003pgw.3,p.R50C	retained_intron, protein_coding, processed_transcript	uc003pgw.3	nonsynonymous SNV	exon1	c.C148T	p.R50C	TGPEGYSVGRGGRWRGTSRPPEAVA	TGPEGYSVGRGGCWRGTSRPPEAVA	1.0	2.0	-	-	2591_6:74104776-74104776 C>T_TGPEGYSVGRGGCWRGTSRPPEAVA
2:113676140-113676140 G>T	0.0	2591	MELANOMA	-	-	-	-	IL37	uc002tik.3,p.K116N|uc002tij.3,p.K137N|NM_173204,p.K97N|uc002til.3,p.K97N|NM_173203,p.K76N|ENST00000263326,p.K137N|uc002tin.3,p.K111N|NM_173205,p.K111N|ENST00000349806,p.K76N|ENST00000353225,p.K97N|NM_173202,p.K116N|ENST00000352179,p.K116N|NM_014439,p.K137N|uc002tim.3,p.K76N|ENST00000311328,p.K111N	protein_coding	uc002tin.3	nonsynonymous SNV	exon4	c.G333T	p.K111N	DKGQSHPSLQLKKEKLMKLAAQKES	DKGQSHPSLQLKNEKLMKLAAQKES	1.0	8.0	-	-	2591_2:113676140-113676140 G>T_DKGQSHPSLQLKNEKLMKLAAQKES
1:156640937-156640937 C>T	1.0	2591	MELANOMA	-	-	-	-	NES	NM_006617,p.E1015K|uc001fpq.3,p.E1015K|ENST00000368223,p.E1015K	protein_coding	uc001fpq.3	nonsynonymous SNV	exon4	c.G3043A	p.E1015K	TEEVWIPGEGHPESPEPKEQRGLVE	TEEVWIPGEGHPKSPEPKEQRGLVE	10.0	8.0	-	-	2591_1:156640937-156640937 C>T_TEEVWIPGEGHPKSPEPKEQRGLVE
1:1267088-1267088 G>A	0.0	2591	MELANOMA	-	-	-	-	TAS1R3	NM_152228,p.D88N|uc010nyk.2,p.D88N|ENST00000339381,p.D88N	protein_coding	uc010nyk.2	nonsynonymous SNV	exon2	c.G262A	p.D88N	MKMAVEEINNKSDLLPGLRLGYDLF	MKMAVEEINNKSNLLPGLRLGYDLF	1.0	5.0	-	-	2591_1:1267088-1267088 G>A_MKMAVEEINNKSNLLPGLRLGYDLF
17:67190591-67190591 C>T	0.0	2591	MELANOMA	-	-	-	-	ABCA10	ENST00000416101,p.G427E|uc010dfb.1,p.G28E|ENST00000523419,p.G427E|ENST00000269081,p.G427E|NM_080282,p.G427E|uc010dfa.1,p.G427E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dfb.1	nonsynonymous SNV	exon5	c.G83A	p.G28E	FDIYEGQITAILGHNGAGKSTLLNI	FDIYEGQITAILEHNGAGKSTLLNI	2.0	8.0	-	-	2591_17:67190591-67190591 C>T_FDIYEGQITAILEHNGAGKSTLLNI
2:168103957-168103957 C>T	0.0	2591	MELANOMA	-	-	-	-	XIRP2	NM_152381,p.P2019S|uc010fpq.3,p.P1797S|uc002udy.3,p.P1844S|uc002udx.3,p.P2019S|ENST00000409273,p.P1797S|NM_001199144,p.P1797S|ENST00000409195,p.P2019S|ENST00000295237,p.P2019S	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.C5389T	p.P1797S	GNLVEERTEVNLPKAPKGTVKIVID	GNLVEERTEVNLSKAPKGTVKIVID	1.0	8.0	-	-	2591_2:168103957-168103957 C>T_GNLVEERTEVNLSKAPKGTVKIVID
5:13844951-13844951 C>T	0.0	2591	MELANOMA	0.0014	-	-	-	DNAH5	uc003jfd.2,p.E1756K|ENST00000265104,p.E1756K|NM_001369,p.E1756K	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon32	c.G5266A	p.E1756K	NVFDNIKSVKFHEKIYDRILSISSQ	NVFDNIKSVKFHKKIYDRILSISSQ	1.0	5.0	-	-	2591_5:13844951-13844951 C>T_NVFDNIKSVKFHKKIYDRILSISSQ
2:113943552-113943552 G>A	0.0	2591	MELANOMA	-	-	-	-	PSD4	uc002tjc.3,p.E450K|uc002tjf.3,p.E71K|NM_012455,p.E450K|uc002tjd.3,p.E71K|ENST00000245796,p.E450K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tjf.3	nonsynonymous SNV	exon3	c.G211A	p.E71K	RSPASSPEPSSPESESRGPGPRPSP	RSPASSPEPSSPKSESRGPGPRPSP	3.0	2.0	-	-	2591_2:113943552-113943552 G>A_RSPASSPEPSSPKSESRGPGPRPSP
19:9061608-9061608 G>A	0.0	2591	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.T8613I|NM_024690,p.T8613I|uc002mkp.3,p.T8613I	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C25838T	p.T8613I	TTDMLRTSSEPETSSPPNLSSTSAE	TTDMLRTSSEPEISSPPNLSSTSAE	1.0	6.0	-	-	2591_19:9061608-9061608 G>A_TTDMLRTSSEPEISSPPNLSSTSAE
10:28378750-28378750 G>A	0.0	2591	MELANOMA	-	-	ID=COSM1702217;OCCURENCE=1(skin)	-	MPP7	uc001iub.1,p.R325C|ENST00000540098,p.R325C|ENST00000445954,p.R200C|uc001iua.1,p.R325C|uc009xla.2,p.R325C|NM_173496,p.R325C|ENST00000496637,p.R325C|ENST00000375719,p.R325C|ENST00000337532,p.R325C|ENST00000441595,p.R86C|ENST00000375732,p.R325C	protein_coding, processed_transcript	uc009xla.2	nonsynonymous SNV	exon12	c.C973T	p.R325C	SNRKSSGFRKSFRLSRKDKKTNKSM	SNRKSSGFRKSFCLSRKDKKTNKSM	1.0	4.0	-	-	2591_10:28378750-28378750 G>A_SNRKSSGFRKSFCLSRKDKKTNKSM
14:94936060-94936060 G>A	0.0	2591	MELANOMA	-	-	-	-	SERPINA9	NM_175739,p.P58S|ENST00000337425,p.P58S|uc001ydh.1,p.P58S|uc001yde.3,p.P58S|ENST00000380365,p.P40S|uc001ydf.3,p.P58S|NM_001042518,p.P58S|ENST00000298845,p.P58S	protein_coding, processed_transcript, nonsense_mediated_decay	uc001ydh.1	nonsynonymous SNV	exon2	c.C172T	p.P58S	SAYPRPSSTKSTPASQVYSLNTDFA	SAYPRPSSTKSTSASQVYSLNTDFA	1.0	6.0	-	-	2591_14:94936060-94936060 G>A_SAYPRPSSTKSTSASQVYSLNTDFA
2:113943552-113943552 G>A	0.0	2591	MELANOMA	-	-	-	-	PSD4	uc002tje.3,p.E421K|ENST00000441564,p.E422K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tje.3	nonsynonymous SNV	exon5	c.G1261A	p.E421K	TLNSQDREPSSPESESRGPGPRPSP	TLNSQDREPSSPKSESRGPGPRPSP	3.0	2.0	-	-	2591_2:113943552-113943552 G>A_TLNSQDREPSSPKSESRGPGPRPSP
18:31325054-31325054 C>T	0.0	2591	MELANOMA	-	-	-	-	ASXL3	uc002kxq.2,p.P1455S|NM_030632,p.P1748S|uc010dmg.1,p.P1748S|ENST00000269197,p.P1748S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dmg.1	nonsynonymous SNV	exon12	c.C5242T	p.P1748S	SGCRLSSVEANNPLVTQLLQGNLPL	SGCRLSSVEANNSLVTQLLQGNLPL	1.0	4.0	unscreened	-	2591_18:31325054-31325054 C>T_SGCRLSSVEANNSLVTQLLQGNLPL
2:70910851-70910851 C>T	0.0	2591	MELANOMA	-	-	-	-	ADD2	uc021vjc.1,p.E333K|ENST00000355733,p.E333K|uc002sgz.3,p.E333K|NM_001185055,p.E349K|ENST00000407644,p.E333K|uc010fdu.2,p.E349K|NM_017488,p.E333K|NM_001185054,p.E333K|ENST00000430656,p.E349K|NM_001617,p.E333K|uc010fdt.2,p.E333K|ENST00000413157,p.E333K|ENST00000264436,p.E333K|ENST00000403045,p.E333K|uc002sgy.3,p.E333K|uc002shc.2,p.E333K|NM_017482,p.E333K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vjc.1	nonsynonymous SNV	exon10	c.G997A	p.E333K	SSAGGVENLILLEQEKHRPHEVGSV	SSAGGVENLILLKQEKHRPHEVGSV	2.0	5.0	-	-	2591_2:70910851-70910851 C>T_SSAGGVENLILLKQEKHRPHEVGSV
7:140453136-140453136 A>T	0.0	2591	MELANOMA	-	-	ID=COSM476;OCCURENCE=3(adrenal_gland),3(urinary_tract),4(genital_tract),7(pancreas),16(liver),68(eye),2(prostate),4161(large_intestine),21(biliary_tract),11(breast),4377(skin),9(small_intestine),1(autonomic_ganglia),20(pituitary),242(ovary),32(soft_tissue),7(testis),459(haematopoietic_and_lymphoid_tissue),9534(thyroid),78(lung),1(meninges),12(upper_aerodigestive_tract),717(NS),15(bone),2(oesophagus),4(stomach),228(central_nervous_system)	1	BRAF	ENST00000288602,p.V600E|uc003vwc.4,p.V600E|NM_004333,p.V600E|ENST00000479537,p.V28E	retained_intron, protein_coding, nonsense_mediated_decay	uc003vwc.4	nonsynonymous SNV	exon15	c.T1799A	p.V600E	LTVKIGDFGLATVKSRWSGSHQFEQ	LTVKIGDFGLATEKSRWSGSHQFEQ	5.0	3.0	-	-	2591_7:140453136-140453136 A>T_LTVKIGDFGLATEKSRWSGSHQFEQ
12:6753604-6753604 C>T	0.0	2591	MELANOMA	-	-	ID=COSM212792;OCCURENCE=1(breast)	-	ACRBP	NM_032489,p.E215K|uc010sfg.1,p.E182K|ENST00000414226,p.E182K|ENST00000536350,p.E215K|uc001qpu.1,p.E215K|ENST00000229243,p.E215K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sfg.1	nonsynonymous SNV	exon5	c.G544A	p.E182K	HRQEPTQEHKQEEGQKQEEQEEEQE	HRQEPTQEHKQEKGQKQEEQEEEQE	2.0	7.0	unscreened	-	2591_12:6753604-6753604 C>T_HRQEPTQEHKQEKGQKQEEQEEEQE
1:156776977-156776977 G>A	0.0	2591	MELANOMA	-	-	-	-	SH2D2A	NM_001161442,p.P370L|uc009wsh.2,p.P398L|uc001fqd.2,p.P388L|NM_001161441,p.P398L|ENST00000368199,p.P388L|uc010phs.1,p.P388L|ENST00000392306,p.P398L|ENST00000368198,p.P370L|uc001fqc.1,p.P360L|NM_003975,p.P388L|NM_001161444,p.P388L|NM_001161443,p.P360L|uc001fqe.2,p.P370L	protein_coding, processed_transcript	uc010phs.1	nonsynonymous SNV	exon8	c.C1163T	p.P388L	QDRGQAWLPLGPPQ	QDRGQAWLPLGPLQ	3.0	2.0	-	-	2591_1:156776977-156776977 G>A_QDRGQAWLPLGPLQ
21:47754569-47754569 G>A	0.0	2591	MELANOMA	-	-	-	-	PCNT	NM_006031,p.D176N|ENST00000359568,p.D176N|uc002zjj.3,p.D58N|uc002zji.4,p.D176N	retained_intron, protein_coding, processed_transcript	uc002zjj.3	nonsynonymous SNV	exon3	c.G172A	p.D58N	HPPEQRGMFTISDHQPEQRGMFTVS	HPPEQRGMFTISNHQPEQRGMFTVS	7.0	3.0	-	-	2591_21:47754569-47754569 G>A_HPPEQRGMFTISNHQPEQRGMFTVS
3:193080230-193080230 G>A	0.0	2591	MELANOMA	-	-	-	-	ATP13A5	uc011bsq.2,p.S159F|ENST00000342358,p.S159F|NM_198505,p.S159F	retained_intron, protein_coding, processed_transcript	uc011bsq.2	nonsynonymous SNV	exon5	c.C476T	p.S159F	RFQKVGLLEDSNSCSDIHQTFGLGL	RFQKVGLLEDSNFCSDIHQTFGLGL	1.0	5.0	-	-	2591_3:193080230-193080230 G>A_RFQKVGLLEDSNFCSDIHQTFGLGL
9:86928366-86928366 C>T	0.0	2591	MELANOMA	-	-	-	-	SLC28A3	NM_022127,p.E22K|uc004anu.2,p.E22K|NM_001199633,p.E22K|ENST00000376238,p.E22K|uc010mpz.3,p.E22K	protein_coding, processed_transcript	uc010mpz.3	nonsynonymous SNV	exon2	c.G64A	p.E22K	RAEGYSNVGFQNEENFLENENTSGN	RAEGYSNVGFQNKENFLENENTSGN	2.0	3.0	-	-	2591_9:86928366-86928366 C>T_RAEGYSNVGFQNKENFLENENTSGN
13:25439032-25439032 G>A	0.0	2591	MELANOMA	-	-	-	-	RNF17	uc010aac.3,p.E525K	protein_coding, processed_transcript	uc010aac.3	nonsynonymous SNV	exon13	c.G1573A	p.E525K	LSKRQELPKNPWEKLSIHLYFDGMS	LSKRQELPKNPWKKLSIHLYFDGMS	1.0	6.0	-	-	2591_13:25439032-25439032 G>A_LSKRQELPKNPWKKLSIHLYFDGMS
13:25439032-25439032 G>A	0.0	2591	MELANOMA	-	-	-	-	RNF17	NM_031277,p.E1333K|uc001upr.3,p.E1333K|ENST00000418120,p.E657K|ENST00000255324,p.E1333K|uc010tde.2,p.E1329K|NM_001184993,p.E1329K|uc001ups.3,p.E1272K	protein_coding, processed_transcript	uc010tde.2	nonsynonymous SNV	exon29	c.G3985A	p.E1329K	DIHIMELPKNPWEKLSIHLYFDGMS	DIHIMELPKNPWKKLSIHLYFDGMS	1.0	6.0	-	-	2591_13:25439032-25439032 G>A_DIHIMELPKNPWKKLSIHLYFDGMS
6:75865979-75865979 T>C	0.0	2591	MELANOMA	-	-	-	-	COL12A1	ENST00000483888,p.T1082A|uc021zbv.1,p.T1082A|ENST00000416123,p.T1082A|NM_004370,p.T1082A|ENST00000322507,p.T1082A|uc003phs.3,p.T1082A	retained_intron, protein_coding, processed_transcript	uc021zbv.1	nonsynonymous SNV	exon14	c.A3244G	p.T1082A	KMGEGKLRQGSGTTASRFKSPRNLK	KMGEGKLRQGSGATASRFKSPRNLK	2.0	7.0	-	-	2591_6:75865979-75865979 T>C_KMGEGKLRQGSGATASRFKSPRNLK
2:160295170-160295170 C>T	0.0	2591	MELANOMA	-	-	-	-	BAZ2B	ENST00000392782,p.G311R|ENST00000343439,p.G311R|uc002uao.3,p.G313R|NM_013450,p.G313R|ENST00000392783,p.G313R|uc002uas.1,p.G250R|uc010fop.1,p.G311R|uc002uap.3,p.G311R|ENST00000355831,p.G313R|uc002uau.1,p.G311R|uc002uaq.1,p.G241R|NM_001289975,p.G311R	retained_intron, protein_coding, processed_transcript	uc010fop.1	nonsynonymous SNV	exon7	c.G931A	p.G311R	VLLHGISDPKADGQKATEKAQEKRI	VLLHGISDPKADRQKATEKAQEKRI	7.0	4.0	-	-	2591_2:160295170-160295170 C>T_VLLHGISDPKADRQKATEKAQEKRI
19:54802092-54802092 G>A	0.0	2591	MELANOMA	-	-	-	-	LILRA3	ENST00000391745,p.P383S|uc002qfd.3,p.P366S|NM_006865,p.P366S|uc010erk.3,p.P302S|ENST00000251390,p.P366S|ENST00000391744,p.P302S|NM_001172654,p.P302S	protein_coding	uc010erk.3	nonsynonymous SNV	exon6	c.C904T	p.P302S	TFLLTKEGAADSPLRLKSKRQSHKY	TFLLTKEGAADSSLRLKSKRQSHKY	1.0	3.0	-	-	2591_19:54802092-54802092 G>A_TFLLTKEGAADSSLRLKSKRQSHKY
5:90052931-90052931 G>A	0.0	2591	MELANOMA	-	-	-	-	GPR98	ENST00000405460,p.E3965K|uc003kjv.3,p.E1565K|NM_032119,p.E3965K|uc003kju.3,p.E3965K	retained_intron, protein_coding, processed_transcript	uc003kjv.3	nonsynonymous SNV	exon25	c.G4693A	p.E1565K	VYWKASPDSAGLEDFKPSHGILEFA	VYWKASPDSAGLKDFKPSHGILEFA	1.0	4.0	-	-	2591_5:90052931-90052931 G>A_VYWKASPDSAGLKDFKPSHGILEFA
11:32637567-32637567 C>T	0.0	2591	MELANOMA	-	-	-	-	CCDC73	NM_001008391,p.E432K|uc001mtv.4,p.E432K|ENST00000335185,p.E432K|uc001mtw.2,p.E422K	protein_coding, processed_transcript	uc001mtw.2	nonsynonymous SNV	exon15	c.G1264A	p.E422K	YNTEQEIREENMENFCSDTEYREKE	YNTEQEIREENMKNFCSDTEYREKE	4.0	7.0	-	-	2591_11:32637567-32637567 C>T_YNTEQEIREENMKNFCSDTEYREKE
19:56435995-56435995 G>A	0.0	2591	MELANOMA	-	-	ID=COSM1712907;OCCURENCE=1(skin)	-	NLRP13	ENST00000342929,p.P140S|NM_176810,p.P140S|uc010ygg.2,p.P140S|ENST00000588751,p.P140S	protein_coding	uc010ygg.2	nonsynonymous SNV	exon3	c.C418T	p.P140S	AAGNMQTQGCQDPNQEELDELEEET	AAGNMQTQGCQDSNQEELDELEEET	1.0	4.0	-	-	2591_19:56435995-56435995 G>A_AAGNMQTQGCQDSNQEELDELEEET
6:139610033-139610033 C>T	0.0	2591	MELANOMA	-	-	-	-	TXLNB	uc021zfy.1,p.E2K|ENST00000358430,p.E2K|NM_153235,p.E2K	protein_coding	uc021zfy.1	nonsynonymous SNV	exon2	c.G4A	p.E2K	MEANHSEQLSAERQ	MKANHSEQLSAERQ	2.0	7.0	unscreened	-	2591_6:139610033-139610033 C>T_MKANHSEQLSAERQ
10:98820452-98820452 G>A	0.0	2591	MELANOMA	-	-	-	-	SLIT1	ENST00000371041,p.R296C|NM_003061,p.R296C|uc009xvh.1,p.R296C|ENST00000314867,p.R279C|ENST00000266058,p.R296C|uc001kmw.2,p.R296C|ENST00000371070,p.R296C	protein_coding, processed_transcript	uc009xvh.1	nonsynonymous SNV	exon9	c.C886T	p.R296C	AMCTCSNGIVDCRGKGLTAIPANLP	AMCTCSNGIVDCCGKGLTAIPANLP	2.0	4.0	-	-	2591_10:98820452-98820452 G>A_AMCTCSNGIVDCCGKGLTAIPANLP
3:108074095-108074095 G>A	0.0	2591	MELANOMA	-	-	-	-	HHLA2	ENST00000491820,p.M184I|NM_001282557,p.M184I|ENST00000467562,p.M120I|NM_001282558,p.M184I|ENST00000357759,p.M184I|uc003dwz.3,p.M184I|uc003dwy.4,p.M184I|NM_001282559,p.M120I|uc010hpu.3,p.M184I|NM_001282556,p.M184I|ENST00000489514,p.M184I|ENST00000467761,p.M184I|NM_007072,p.M184I|uc011bhl.2,p.M120I	protein_coding	uc011bhl.2	nonsynonymous SNV	exon6	c.G360A	p.M120I	WKMDNTPISENNMEETGSLDSFSIN	WKMDNTPISENNIEETGSLDSFSIN	1.0	4.0	-	-	2591_3:108074095-108074095 G>A_WKMDNTPISENNIEETGSLDSFSIN
13:72134078-72134078 G>A	0.0	2591	MELANOMA	-	-	-	-	DACH1	uc021rkj.1,p.P439S|ENST00000305425,p.P439S|ENST00000359684,p.P491S	protein_coding	uc021rkj.1	nonsynonymous SNV	exon5	c.C1315T	p.P439S	SRVETSVIKERVPDSPSPAPSLEEG	SRVETSVIKERVSDSPSPAPSLEEG	1.0	6.0	-	-	2591_13:72134078-72134078 G>A_SRVETSVIKERVSDSPSPAPSLEEG
19:33666393-33666393 G>A	0.0	2591	MELANOMA	-	-	-	-	WDR88	ENST00000355868,p.R445K|NM_173479,p.R445K|uc002nui.3,p.R445K	protein_coding	uc002nui.3	nonsynonymous SNV	exon11	c.G1334A	p.R445K	MFTQCVFCRIDTRGLPADTSSSSSS	MFTQCVFCRIDTKGLPADTSSSSSS	1.0	5.0	unscreened	-	2591_19:33666393-33666393 G>A_MFTQCVFCRIDTKGLPADTSSSSSS
5:64766720-64766720 C>A	0.0	2591	MELANOMA	-	-	-	-	ADAMTS6	ENST00000464680,p.W116L|uc003jtp.3,p.W116L|NM_197941,p.W116L|ENST00000381052,p.W116L|ENST00000536360,p.W116L|ENST00000381055,p.W116L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jtp.3	nonsynonymous SNV	exon3	c.G347T	p.W116L	TDFVSKHFTVEYWGKDGPQWKHDFL	TDFVSKHFTVEYLGKDGPQWKHDFL	1.0	5.0	-	-	2591_5:64766720-64766720 C>A_TDFVSKHFTVEYLGKDGPQWKHDFL
16:14334202-14334202 A>G	0.0	2591	MELANOMA	-	-	-	-	MKL2	ENST00000571589,p.K314E|ENST00000573051,p.K263E|ENST00000341243,p.K303E|uc002dch.3,p.K303E|ENST00000318282,p.K314E|uc010uzb.2,p.K263E|NM_014048,p.K314E|uc002dcg.3,p.K314E|ENST00000574045,p.K314E|ENST00000572567,p.K303E|uc010uza.2,p.K314E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uzb.2	nonsynonymous SNV	exon8	c.A787G	p.K263E	KLKYHQYIPPDQKGEKNEPQMDSNY	KLKYHQYIPPDQEGEKNEPQMDSNY	4.0	6.0	-	-	2591_16:14334202-14334202 A>G_KLKYHQYIPPDQEGEKNEPQMDSNY
12:18854515-18854515 C>T	0.0	2591	MELANOMA	-	-	-	-	PLCZ1	uc001rdu.2,p.E95K|ENST00000538330,p.E95K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rdu.2	nonsynonymous SNV	exon5	c.G283A	p.E95K	EEEDKFKESEVLESVLGDNQDKETG	EEEDKFKESEVLKSVLGDNQDKETG	1.0	3.0	unscreened	-	2591_12:18854515-18854515 C>T_EEEDKFKESEVLKSVLGDNQDKETG
2:84928272-84928272 G>A	0.0	2591	MELANOMA	-	-	-	-	DNAH6	NM_001370,p.D2624N|ENST00000389394,p.D2624N|uc010fgb.3,p.D2624N|ENST00000237449,p.D2624N	retained_intron, protein_coding, processed_transcript	uc010fgb.3	nonsynonymous SNV	exon49	c.G7870A	p.D2624N	LLSVSKTFFSQVDAGNEELKEKLPL	LLSVSKTFFSQVNAGNEELKEKLPL	1.0	4.0	-	-	2591_2:84928272-84928272 G>A_LLSVSKTFFSQVNAGNEELKEKLPL
18:43310353-43310353 C>T	0.0	2591	MELANOMA	-	-	-	-	SLC14A1	ENST00000588179,p.S79L|uc002lbk.4,p.S23L|ENST00000415427,p.S79L|uc002lbf.4,p.S23L|uc021ujg.1,p.S23L|ENST00000589891,p.S79L|ENST00000436407,p.S79L|NM_001146036,p.S23L|ENST00000589700,p.S23L|ENST00000586142,p.S23L|ENST00000586951,p.S23L|uc002lbj.4,p.S79L|NM_001146037,p.S79L|ENST00000586056,p.S23L|uc010dnk.3,p.S79L|NM_001128588,p.S79L|NM_015865,p.S23L|uc010xcn.2,p.S23L|ENST00000321925,p.S23L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ujg.1	nonsynonymous SNV	exon1	c.C68T	p.S23L	DSPTMVRGENQVSPCQGRRCFPKAL	DSPTMVRGENQVLPCQGRRCFPKAL	1.0	5.0	-	-	2591_18:43310353-43310353 C>T_DSPTMVRGENQVLPCQGRRCFPKAL
1:175046954-175046954 G>A	0.0	2591	MELANOMA	-	-	-	-	TNN	uc001gkl.1,p.G134R|uc010pmx.1,p.G134R|NM_022093,p.G134R|ENST00000239462,p.G134R	protein_coding	uc010pmx.1	nonsynonymous SNV	exon1	c.G400A	p.G134R	MKEQCSAQRCCQGVTDLSRHCSGHG	MKEQCSAQRCCQRVTDLSRHCSGHG	1.0	6.0	-	-	2591_1:175046954-175046954 G>A_MKEQCSAQRCCQRVTDLSRHCSGHG
17:11583132-11583132 G>A	0.0	2591	MELANOMA	-	-	ID=COSM1709911;OCCURENCE=1(skin)	-	DNAH9	uc010coo.3,p.E432K|ENST00000454412,p.E1138K|NM_001372,p.E1138K|uc002gne.3,p.E1138K|ENST00000262442,p.E1138K	retained_intron, protein_coding, processed_transcript	uc010coo.3	nonsynonymous SNV	exon6	c.G1294A	p.E432K	IKKSESGLLKKVEKGDFQGLVEIMG	IKKSESGLLKKVKKGDFQGLVEIMG	1.0	4.0	-	-	2591_17:11583132-11583132 G>A_IKKSESGLLKKVKKGDFQGLVEIMG
X:155233395-155233395 C>T	0.0	2591	MELANOMA	-	-	-	-	IL9R	ENST00000369423,p.P148S|uc004fnu.1,p.P148S|NM_176786,p.P148S|ENST00000540897,p.P138S	protein_coding, processed_transcript	uc004fnu.1	nonsynonymous SNV	exon5	c.C442T	p.P148S	AHISASCGAVSAPSCCHLRQCSCHL	AHISASCGAVSASSCCHLRQCSCHL	1.0	5.0	unscreened	-	2591_X:155233395-155233395 C>T_AHISASCGAVSASSCCHLRQCSCHL
2:108863655-108863655 C>G	0.0	2591	MELANOMA	-	-	-	-	SULT1C3	ENST00000376700,p.A2G|ENST00000329106,p.A2G|NM_001008743,p.A2G|uc010ywo.2,p.A2G	protein_coding	uc010ywo.2	nonsynonymous SNV	exon1	c.C5G	p.A2G	MAKIEKNAPTMEKK	MGKIEKNAPTMEKK	1.0	5.0	unscreened	-	2591_2:108863655-108863655 C>G_MGKIEKNAPTMEKK
8:98943714-98943714 G>A	1.0	3309	MELANOMA	-	-	-	-	MATN2	uc003yic.3,p.E226K|uc010mbh.1,p.E226K|uc003yie.1,p.E226K|ENST00000524308,p.E226K|uc010mbi.1,p.E100K|uc003yib.1,p.E226K|NM_030583,p.E226K|ENST00000521689,p.E226K|ENST00000520016,p.E226K|uc003yid.3,p.E226K|NM_002380,p.E226K|ENST00000254898,p.E226K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010mbi.1	nonsynonymous SNV	exon1	c.G298A	p.E100K	DHVFLVANFSQIETLTSVFQKKLCT	DHVFLVANFSQIKTLTSVFQKKLCT	6.0	5.0	CD8	-	3309_8:98943714-98943714 G>A_DHVFLVANFSQIKTLTSVFQKKLCT
17:37671997-37671997 G>A	1.0	3309	MELANOMA	-	-	-	1	CDK12	uc010wef.1,p.E927K|uc010cvv.3,p.E928K|ENST00000584632,p.E927K|NM_015083,p.E928K|ENST00000447079,p.E928K|NM_016507,p.E928K|ENST00000430627,p.E928K|uc002hrw.4,p.E928K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wef.1	nonsynonymous SNV	exon9	c.G2779A	p.E927K	AIDVWSCGCILGELFTKKPIFQANL	AIDVWSCGCILGKLFTKKPIFQANL	8.0	4.0	CD8	-	3309_17:37671997-37671997 G>A_AIDVWSCGCILGKLFTKKPIFQANL
4:47560288-47560288 C>T	1.0	3309	MELANOMA	-	-	-	-	ATP10D	uc003gxk.1,p.P811L|uc003gxl.1,p.P59L|NM_020453,p.P811L|ENST00000273859,p.P811L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gxl.1	nonsynonymous SNV	exon5	c.C176T	p.P59L	DSVIMELLSVASPDGASLEKQQMIV	DSVIMELLSVASLDGASLEKQQMIV	6.0	8.0	unscreened	-	3309_4:47560288-47560288 C>T_DSVIMELLSVASLDGASLEKQQMIV
9:128725306-128725306 C>T	1.0	3309	MELANOMA	-	-	-	-	PBX3	uc004bqb.3,p.H380Y|NM_006195,p.H380Y|NM_001134778,p.H305Y|ENST00000373483,p.H199Y|ENST00000447726,p.H305Y|uc004bqe.3,p.H288Y|uc004bqc.3,p.H199Y|ENST00000373489,p.H380Y|ENST00000373487,p.H401Y|uc011lzw.2,p.H305Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc011lzw.2	nonsynonymous SNV	exon8	c.C913T	p.H305Y	GANVQSQVDTLRHVINQTGGYSDGL	GANVQSQVDTLRYVINQTGGYSDGL	7.0	9.0	unscreened	-	3309_9:128725306-128725306 C>T_GANVQSQVDTLRYVINQTGGYSDGL
1:17280797-17280797 C>T	1.0	3309	MELANOMA	-	-	-	-	CROCC	ENST00000375541,p.S1089F|uc001azu.2,p.S392F|NM_014675,p.S1089F|uc009voz.1,p.S688F|uc001azt.2,p.S1089F	protein_coding, processed_transcript	uc009voz.1	nonsynonymous SNV	exon17	c.C2063T	p.S688F	KLMGTRHSLATISLEMERQKRDAQS	KLMGTRHSLATIFLEMERQKRDAQS	8.0	1.0	unscreened	-	3309_1:17280797-17280797 C>T_KLMGTRHSLATIFLEMERQKRDAQS
10:75834566-75834566 C>T	1.0	3309	MELANOMA	-	-	-	-	VCL	uc010qky.1,p.R137C|NM_003373,p.R230C|ENST00000372755,p.R230C|NM_014000,p.R230C|uc001jwe.3,p.R230C|ENST00000211998,p.R230C|uc001jwd.3,p.R230C	protein_coding, processed_transcript	uc010qky.1	nonsynonymous SNV	exon5	c.C409T	p.R137C	SKNQGIEEALKNRNFTVEKMSAEIN	SKNQGIEEALKNCNFTVEKMSAEIN	9.0	10.0	unscreened	-	3309_10:75834566-75834566 C>T_SKNQGIEEALKNCNFTVEKMSAEIN
2:15496475-15496475 G>A	1.0	3309	MELANOMA	-	-	-	-	NBAS	ENST00000281513,p.H1295Y|NM_015909,p.H1295Y|ENST00000441750,p.H1175Y|uc002rcc.2,p.H1295Y|uc010exl.1,p.H367Y	retained_intron, protein_coding, nonsense_mediated_decay	uc010exl.1	nonsynonymous SNV	exon9	c.C1099T	p.H367Y	VLILLVEQALRFHDYKAASMHCQEL	VLILLVEQALRFYDYKAASMHCQEL	7.0	5.0	unscreened	-	3309_2:15496475-15496475 G>A_VLILLVEQALRFYDYKAASMHCQEL
7:44153268-44153268 C>T	1.0	3309	MELANOMA	-	-	-	-	AEBP1	ENST00000450684,p.P537L|uc003tkb.4,p.P962L|uc003tkc.5,p.P537L|NM_001129,p.P962L|ENST00000223357,p.P962L|uc003tkd.4,p.P212L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003tkd.4	nonsynonymous SNV	exon8	c.C635T	p.P212L	EYRVTAHAEGYTPSAKTCNVDYDIG	EYRVTAHAEGYTLSAKTCNVDYDIG	10.0	9.0	unscreened	-	3309_7:44153268-44153268 C>T_EYRVTAHAEGYTLSAKTCNVDYDIG
5:160097628-160097628 C>T	1.0	3309	MELANOMA	-	-	-	-	ATP10B	uc003lym.1,p.G173R|uc003lyo.2,p.G145R|NM_025153,p.G173R|ENST00000327245,p.G173R|uc011deg.1,p.G217R|uc003lyp.2,p.G173R	retained_intron, protein_coding, processed_transcript	uc011deg.1	nonsynonymous SNV	exon5	c.G649A	p.G217R	TYVQKCWKDVRVGDFIQMKCNEIVP	TYVQKCWKDVRVRDFIQMKCNEIVP	7.0	1.0	unscreened	-	3309_5:160097628-160097628 C>T_TYVQKCWKDVRVRDFIQMKCNEIVP
16:51171369-51171369 G>A	1.0	3309	MELANOMA	-	-	-	-	SALL1	uc021tif.1,p.P1113L|uc010cbv.3,p.P62L|ENST00000251020,p.P1210L|NM_002968,p.P1210L|NM_001127892,p.P1113L|ENST00000541611,p.P33L|ENST00000440970,p.P1113L|ENST00000570206,p.P1113L	protein_coding, processed_transcript	uc021tif.1	nonsynonymous SNV	exon3	c.C3338T	p.P1113L	SVDGPMTFLGGNPVKFPEMFQKDLA	SVDGPMTFLGGNLVKFPEMFQKDLA	5.0	7.0	unscreened	-	3309_16:51171369-51171369 G>A_SVDGPMTFLGGNLVKFPEMFQKDLA
20:25002033-25002033 G>A	1.0	3309	MELANOMA	-	-	-	-	ACSS1	NM_001252677,p.P367L|NM_001252676,p.P246L|uc002wua.3,p.P284L|uc031rsm.1,p.P367L|uc002wub.3,p.P367L|ENST00000542618,p.P246L|uc002wuc.3,p.P367L|NM_032501,p.P367L|uc021wbl.1,p.P246L|ENST00000537502,p.P284L|NM_001252675,p.P367L|ENST00000432802,p.P367L|ENST00000323482,p.P367L	protein_coding, processed_transcript	uc031rsm.1	nonsynonymous SNV	exon6	c.C1100T	p.P367L	ATSVLFESTPVYPNAGRYWETVERL	ATSVLFESTPVYLNAGRYWETVERL	9.0	2.0	unscreened	-	3309_20:25002033-25002033 G>A_ATSVLFESTPVYLNAGRYWETVERL
22:44564506-44564506 C>T	1.0	3309	MELANOMA	-	-	-	-	PARVB	NM_013327,p.S348F|uc003ben.3,p.S348F|uc010gzn.3,p.S273F|ENST00000338758,p.S348F|ENST00000404989,p.S311F|NM_001243386,p.S273F|uc003bem.3,p.S381F|ENST00000406477,p.S381F|NM_001243385,p.S311F|NM_001003828,p.S381F|uc003beo.3,p.S311F	protein_coding, processed_transcript	uc010gzn.3	nonsynonymous SNV	exon12	c.C818T	p.S273F	ARPEDVVNLDLKSTLRVLYNLFTKY	ARPEDVVNLDLKFTLRVLYNLFTKY	10.0	3.0	unscreened	-	3309_22:44564506-44564506 C>T_ARPEDVVNLDLKFTLRVLYNLFTKY
1:11082425-11082425 C>T	1.0	3309	MELANOMA	-	-	-	-	TARDBP	ENST00000240185,p.P320L|uc010oap.2,p.P204L|uc001art.3,p.P320L|NM_007375,p.P320L|ENST00000439080,p.P204L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010oap.2	nonsynonymous SNV	exon5	c.C611T	p.P204L	GGGMNFGAFSINPAMMAAAQAALQS	GGGMNFGAFSINLAMMAAAQAALQS	10.0	2.0	unscreened	-	3309_1:11082425-11082425 C>T_GGGMNFGAFSINLAMMAAAQAALQS
1:6151338-6151338 C>T	1.0	3309	MELANOMA	-	-	-	-	KCNAB2	ENST00000378083,p.S206F|NM_001199862,p.S206F|uc001aly.2,p.S206F	retained_intron, protein_coding, processed_transcript	uc001aly.2	nonsynonymous SNV	exon10	c.C617T	p.S206F	DPNTPMEGDPFSSSKSRTFIIEETV	DPNTPMEGDPFSFSKSRTFIIEETV	10.0	8.0	unscreened	-	3309_1:6151338-6151338 C>T_DPNTPMEGDPFSFSKSRTFIIEETV
12:6494254-6494254 C>T	1.0	3309	MELANOMA	-	-	-	-	LTBR	uc001qnz.2,p.S82F|ENST00000228918,p.S87F|uc010sfc.2,p.S68F|NM_002342,p.S87F|NM_001270987,p.S68F|ENST00000536876,p.S82F|uc001qny.2,p.S87F|ENST00000539925,p.S68F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sfc.2	nonsynonymous SNV	exon3	c.C203T	p.S68F	IRDTVCATCAENSYNEHWNYLTICQ	IRDTVCATCAENFYNEHWNYLTICQ	10.0	9.0	unscreened	-	3309_12:6494254-6494254 C>T_IRDTVCATCAENFYNEHWNYLTICQ
2:225371648-225371648 G>A	1.0	3309	MELANOMA	-	-	-	2	CUL3	ENST00000344951,p.S253F|NM_003590,p.S319F|NM_001257198,p.S325F|ENST00000409777,p.S295F|uc010zls.2,p.S253F|ENST00000409096,p.S295F|NM_001257197,p.S253F|ENST00000264414,p.S319F|uc002vny.3,p.S319F|uc010fwy.2,p.S325F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zls.2	nonsynonymous SNV	exon6	c.C758T	p.S253F	PNGLKTMCECMSSYLREQGKALVSE	PNGLKTMCECMSFYLREQGKALVSE	9.0	6.0	unscreened	-	3309_2:225371648-225371648 G>A_PNGLKTMCECMSFYLREQGKALVSE
16:18869599-18869599 G>A	1.0	3309	MELANOMA	-	-	-	-	SMG1	uc010bwb.3,p.P1236L|ENST00000446231,p.P1376L|NM_015092,p.P1376L|ENST00000565324,p.P1266L|ENST00000389467,p.P1376L|uc010bwa.3,p.P107L|uc002dfm.3,p.P1376L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bwb.3	nonsynonymous SNV	exon27	c.C3707T	p.P1236L	VSNRLSTEDCLIPLFSEALRSCKQH	VSNRLSTEDCLILLFSEALRSCKQH	8.0	9.0	unscreened	-	3309_16:18869599-18869599 G>A_VSNRLSTEDCLILLFSEALRSCKQH
8:95518765-95518765 G>A	1.0	3309	MELANOMA	-	-	-	-	KIAA1429	ENST00000437199,p.L1354F|ENST00000522263,p.L707F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000522263	nonsynonymous SNV	exon9	c.C2119T	p.L707F	NCLLTCVRTMMFLAEHDYGLFHLKR	NCLLTCVRTMMFFAEHDYGLFHLKR	8.0	9.0	unscreened	-	3309_8:95518765-95518765 G>A_NCLLTCVRTMMFFAEHDYGLFHLKR
2:224463078-224463078 G>A	1.0	3309	MELANOMA	-	-	-	-	SCG2	uc002vnm.3,p.S308F|ENST00000305409,p.S308F|NM_003469,p.S308F|uc021vxk.1,p.S308F	protein_coding	uc021vxk.1	nonsynonymous SNV	exon1	c.C923T	p.S308F	RKESKDQLSDDVSKVIAYLKRLVNA	RKESKDQLSDDVFKVIAYLKRLVNA	7.0	7.0	unscreened	-	3309_2:224463078-224463078 G>A_RKESKDQLSDDVFKVIAYLKRLVNA
8:95518765-95518765 G>A	1.0	3309	MELANOMA	-	-	-	-	KIAA1429	uc003ygo.2,p.L1354F|NM_015496,p.L1354F|ENST00000297591,p.L1354F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ygo.2	nonsynonymous SNV	exon16	c.C4060T	p.L1354F	NCLLTCVRTMMFLAEHDYGLFHLKS	NCLLTCVRTMMFFAEHDYGLFHLKS	8.0	9.0	unscreened	-	3309_8:95518765-95518765 G>A_NCLLTCVRTMMFFAEHDYGLFHLKS
12:53452200-53452200 C>T	1.0	3309	MELANOMA	-	-	-	-	TENC1	uc001sbo.1,p.P399L	retained_intron, protein_coding, nonsense_mediated_decay	uc001sbo.1	nonsynonymous SNV	exon15	c.C1196T	p.P399L	HTCTIHGPQLTFPKDQLDEAWTGES	HTCTIHGPQLTFLKDQLDEAWTGES	7.0	6.0	unscreened	-	3309_12:53452200-53452200 C>T_HTCTIHGPQLTFLKDQLDEAWTGES
12:53452200-53452200 C>T	1.0	3309	MELANOMA	-	-	-	-	TENC1	ENST00000549700,p.P399L|ENST00000379902,p.P275L|ENST00000546602,p.P399L|uc001sbp.3,p.P399L|NM_015319,p.P409L|NM_198316,p.P275L|ENST00000552570,p.P399L|ENST00000314276,p.P409L|ENST00000451358,p.P399L|ENST00000314250,p.P399L|NM_170754,p.P399L|uc001sbn.3,p.P409L|uc001sbl.3,p.P275L	retained_intron, protein_coding, nonsense_mediated_decay	uc001sbp.3	nonsynonymous SNV	exon15	c.C1196T	p.P399L	HTCTIHGPQLTFPKDQLDEAWTDER	HTCTIHGPQLTFLKDQLDEAWTDER	7.0	6.0	unscreened	-	3309_12:53452200-53452200 C>T_HTCTIHGPQLTFLKDQLDEAWTDER
6:12123450-12123450 C>T	1.0	3309	MELANOMA	-	-	-	-	HIVEP1	uc003nac.3,p.S1141F|NM_002114,p.S1141F|ENST00000379388,p.S1141F	protein_coding, nonsense_mediated_decay	uc003nac.3	nonsynonymous SNV	exon4	c.C3422T	p.S1141F	HGTGISVIQHTNSLSRPNSFDKPEP	HGTGISVIQHTNFLSRPNSFDKPEP	6.0	8.0	unscreened	-	3309_6:12123450-12123450 C>T_HGTGISVIQHTNFLSRPNSFDKPEP
1:45797423-45797423 G>A	1.0	3309	MELANOMA	-	-	-	1	MUTYH	ENST00000372098,p.P363S|NM_001048172,p.P339S|NM_001293196,p.P246S|uc001cnm.3,p.P363S|NM_001293190,p.P353S|NM_001048171,p.P352S|uc001cnl.3,p.P352S|ENST00000372100,p.P349S|uc001cno.3,p.P246S|NM_001128425,p.P366S|NM_012222,p.P363S|ENST00000372104,p.P338S|ENST00000450313,p.P366S|ENST00000354383,p.P339S|uc001cnf.3,p.P338S|ENST00000448481,p.P349S|uc001cnn.3,p.P353S|uc001cng.3,p.P349S|uc001cnj.3,p.P246S|uc001cnh.3,p.P339S|ENST00000456914,p.P338S|ENST00000372115,p.P352S|uc009vxo.3,p.P338S|uc001cni.3,p.P338S|ENST00000372110,p.P353S|ENST00000355498,p.P338S|uc009vxp.3,p.P366S|NM_001293195,p.P338S|NM_001293192,p.P246S|NM_001048173,p.P338S|NM_001048174,p.P338S|NM_001293191,p.P349S	retained_intron, protein_coding, nonsense_mediated_decay	uc009vxp.3	nonsynonymous SNV	exon12	c.C1096T	p.P366S	GVVNFPRKASRKPPREESSATCVLE	GVVNFPRKASRKSPREESSATCVLE	8.0	8.0	unscreened	-	3309_1:45797423-45797423 G>A_GVVNFPRKASRKSPREESSATCVLE
10:7829844-7829844 G>A	1.0	3309	MELANOMA	-	-	-	-	KIN	NM_012311,p.S18F|ENST00000535925,p.S18F|ENST00000379562,p.S18F|uc001ijt.3,p.S18F	protein_coding, processed_transcript	uc001ijt.3	nonsynonymous SNV	exon1	c.C53T	p.S18F	FLTPKAIANRIKSKGLQKLRWYCQM	FLTPKAIANRIKFKGLQKLRWYCQM	7.0	10.0	unscreened	-	3309_10:7829844-7829844 G>A_FLTPKAIANRIKFKGLQKLRWYCQM
13:41705359-41705359 A>C	1.0	3309	MELANOMA	-	-	-	-	KBTBD6	ENST00000379485,p.V430G|uc001uxu.1,p.V430G|ENST00000499385,p.V364G|NM_152903,p.V430G	protein_coding	uc001uxu.1	nonsynonymous SNV	exon1	c.T1289G	p.V430G	LADRLLCREGMDVAYLNGYIYILGG	LADRLLCREGMDGAYLNGYIYILGG	6.0	4.0	unscreened	-	3309_13:41705359-41705359 A>C_LADRLLCREGMDGAYLNGYIYILGG
6:99828117-99828117 C>T	1.0	3309	MELANOMA	-	-	-	-	COQ3	NM_017421,p.G112R|ENST00000254759,p.G112R|uc003ppk.3,p.G112R	protein_coding, processed_transcript	uc003ppk.3	nonsynonymous SNV	exon3	c.G334A	p.G112R	FLALAHKWWDEQGVYAPLHSMNDLR	FLALAHKWWDEQRVYAPLHSMNDLR	7.0	7.0	unscreened	-	3309_6:99828117-99828117 C>T_FLALAHKWWDEQRVYAPLHSMNDLR
5:10402529-10402529 C>T	1.0	3309	MELANOMA	-	-	-	-	MARCH6	ENST00000274140,p.R363C|NM_001270661,p.R258C|NM_005885,p.R363C|ENST00000503788,p.R258C|uc011cmv.2,p.R258C|uc011cmu.2,p.R315C|NM_001270660,p.R315C|ENST00000449913,p.R315C|uc003jeu.2,p.R61C|ENST00000510792,p.R61C|uc003jet.2,p.R363C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cmv.2	nonsynonymous SNV	exon10	c.C772T	p.R258C	HGLATLVKFHRSRRLLGVCYIVVKV	HGLATLVKFHRSCRLLGVCYIVVKV	9.0	10.0	unscreened	-	3309_5:10402529-10402529 C>T_HGLATLVKFHRSCRLLGVCYIVVKV
19:44057828-44057828 G>A	1.0	3309	MELANOMA	-	-	-	-	XRCC1	uc010xwp.1,p.P110L|NM_006297,p.P141L|ENST00000594107,p.P104L|ENST00000543982,p.P110L|ENST00000598165,p.P148L|ENST00000262887,p.P141L|uc002owt.2,p.P141L	retained_intron, protein_coding, nonsense_mediated_decay	uc010xwp.1	nonsynonymous SNV	exon4	c.C329T	p.P110L	KIVCSQPYSKDSPFGLSFVRFHSPP	KIVCSQPYSKDSLFGLSFVRFHSPP	8.0	7.0	unscreened	-	3309_19:44057828-44057828 G>A_KIVCSQPYSKDSLFGLSFVRFHSPP
1:91404393-91404393 C>T	1.0	3309	MELANOMA	-	-	ID=COSM2157149;OCCURENCE=2(central_nervous_system)	-	ZNF644	ENST00000370440,p.V840I|uc001dny.2,p.V840I|uc001dnw.3,p.V840I|ENST00000337393,p.V840I|NM_201269,p.V840I	protein_coding, processed_transcript	uc001dny.2	nonsynonymous SNV	exon3	c.G2518A	p.V840I	SYPDFLHKMTVVVLQKLNSAEKKDS	SYPDFLHKMTVVILQKLNSAEKKDS	8.0	8.0	unscreened	-	3309_1:91404393-91404393 C>T_SYPDFLHKMTVVILQKLNSAEKKDS
9:131860888-131860888 G>A	1.0	3309	MELANOMA	-	-	-	-	CRAT	ENST00000318080,p.P376L	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000318080	nonsynonymous SNV	exon9	c.C1127T	p.P376L	KPELVRSPLVPLPMPKKLRFNITPE	KPELVRSPLVPLLMPKKLRFNITPE	7.0	9.0	unscreened	-	3309_9:131860888-131860888 G>A_KPELVRSPLVPLLMPKKLRFNITPE
2:128482778-128482778 T>A	1.0	3309	MELANOMA	-	-	ID=COSM1006328;OCCURENCE=1(endometrium)	-	WDR33	uc002tpg.2,p.K288I|ENST00000322313,p.K288I|NM_018383,p.K288I	protein_coding	uc002tpg.2	nonsynonymous SNV	exon9	c.A863T	p.K288I	KTGQSLATLHAHKNTVMEVKLNLNG	KTGQSLATLHAHINTVMEVKLNLNG	7.0	8.0	unscreened	-	3309_2:128482778-128482778 T>A_KTGQSLATLHAHINTVMEVKLNLNG
2:74327727-74327727 C>T	0.0	3309	MELANOMA	-	-	-	-	TET3	uc031roi.1,p.S1136F|uc002skb.5,p.S1271F|ENST00000409262,p.S1136F|NM_001287491,p.S1271F	retained_intron, protein_coding	uc031roi.1	nonsynonymous SNV	exon9	c.C3407T	p.S1136F	SYHSYYAQPSLTSVNGFHSKYALPS	SYHSYYAQPSLTFVNGFHSKYALPS	6.0	2.0	unscreened	-	3309_2:74327727-74327727 C>T_SYHSYYAQPSLTFVNGFHSKYALPS
18:14757947-14757947 A>-	0.0	3309	MELANOMA	-	-	-	-	ANKRD30B	ENST00000580206,p.N251fs|ENST00000447268,p.N251fs|uc021uhy.1,p.N251fs|uc010dlo.2,p.N251fs|ENST00000358984,p.N251fs|NM_001145029,p.N251fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021uhy.1	frameshift deletion	exon5	c.751delA	p.N251fs	ITAERYAAACGVNYIHQQLLEHIRK	ITAERYAAACGVITFINNFWNIYENYLKILKIPIQKEHLQEHLMRLHPWRKEHLTRLKACWKKHLTRLHAWWRERLPKFNVWGKQHLESLNSQQKKHLGKF	6.0	4.0	unscreened	-	3309_18:14757947-14757947 A>-_ITAERYAAACGVITFINNFWNIYENYLKILKIPIQKEHLQEHLMRLHPWRKEHLTRLKACWKKHLTRLHAWWRERLPKFNVWGKQHLESLNSQQKKHLGKF
7:99673193-99673193 G>A	1.0	3309	MELANOMA	-	-	-	-	ZNF3	ENST00000299667,p.A39V|uc031sym.1,p.A39V|NM_017715,p.A39V|ENST00000424697,p.A39V|uc003usr.4,p.A39V|ENST00000449785,p.A39V|ENST00000428683,p.A39V|ENST00000413658,p.A39V|NM_001278290,p.A39V|uc003usp.4,p.A39V|ENST00000303915,p.A39V|uc003ust.5,p.A39V|uc003usq.4,p.A39V|NM_001278284,p.A39V|NM_032924,p.A39V|NM_001278287,p.A39V|uc031syk.1,p.A39V|ENST00000415068,p.A39V	retained_intron, protein_coding	uc031sym.1	nonsynonymous SNV	exon4	c.C116T	p.A39V	FSDKDSLGDEMLAAALLKAKSQELV	FSDKDSLGDEMLVAALLKAKSQELV	8.0	1.0	unscreened	-	3309_7:99673193-99673193 G>A_FSDKDSLGDEMLVAALLKAKSQELV
16:109440-109440 C>T	1.0	3309	MELANOMA	-	-	-	-	RHBDF1	ENST00000262316,p.E624K|NM_022450,p.E624K|uc002cfl.4,p.E624K	retained_intron, protein_coding, nonsense_mediated_decay	uc002cfl.4	nonsynonymous SNV	exon15	c.G1870A	p.E624K	REYCDFMRGYFHEEATLCSQVHCMD	REYCDFMRGYFHKEATLCSQVHCMD	10.0	3.0	unscreened	-	3309_16:109440-109440 C>T_REYCDFMRGYFHKEATLCSQVHCMD
14:105407005-105407005 G>A	1.0	3309	MELANOMA	-	-	-	-	AHNAK2	NM_138420,p.S4928F|uc010axc.1,p.S4928F|uc021sen.1,p.S325F|uc001ypx.2,p.S4828F|ENST00000333244,p.S4928F	retained_intron, protein_coding	uc021sen.1	nonsynonymous SNV	exon1	c.C974T	p.S325F	TCVSQGPEELVASLQTSVVAPGEAP	TCVSQGPEELVAFLQTSVVAPGEAP	7.0	3.0	unscreened	-	3309_14:105407005-105407005 G>A_TCVSQGPEELVAFLQTSVVAPGEAP
9:15744607-15744607 G>A	0.0	3309	MELANOMA	0.0041	-	-	-	CCDC171	uc003zmd.3,p.G796R|uc003zme.3,p.G711R|uc011lmu.2,p.G804R|uc010mih.1,p.G804R|NM_173550,p.G796R|ENST00000380701,p.G796R|uc003zmf.1,p.G104R|ENST00000297641,p.G796R	protein_coding, processed_transcript	uc011lmu.2	nonsynonymous SNV	exon16	c.G2410A	p.G804R	QEEAKMKKKTFKGLIRIFRKGVIAV	QEEAKMKKKTFKRLIRIFRKGVIAV	8.0	9.0	unscreened	-	3309_9:15744607-15744607 G>A_QEEAKMKKKTFKRLIRIFRKGVIAV
7:105183078-105183078 C>T	1.0	3309	MELANOMA	-	-	-	-	RINT1	uc003vda.1,p.S166L|NM_021930,p.S166L|ENST00000257700,p.S166L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vda.1	nonsynonymous SNV	exon4	c.C497T	p.S166L	EIERHLAYLKWISQIEELSDNIQQY	EIERHLAYLKWILQIEELSDNIQQY	8.0	2.0	unscreened	-	3309_7:105183078-105183078 C>T_EIERHLAYLKWILQIEELSDNIQQY
11:82991246-82991246 G>A	1.0	3309	MELANOMA	-	-	-	-	CCDC90B	ENST00000455220,p.P44L|NM_021825,p.P53L|ENST00000529073,p.P53L|ENST00000529745,p.P53L|uc001paf.3,p.P44L|ENST00000529689,p.P53L|ENST00000534753,p.P53L|NM_001286116,p.P44L|ENST00000260054,p.P53L|uc001pae.3,p.P53L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001paf.3	nonsynonymous SNV	exon2	c.C131T	p.P44L	KEGYDRRPVDITPLEQRKLTFDTHA	KEGYDRRPVDITLLEQRKLTFDTHA	8.0	10.0	unscreened	-	3309_11:82991246-82991246 G>A_KEGYDRRPVDITLLEQRKLTFDTHA
1:235827293-235827293 G>A	1.0	3309	MELANOMA	-	-	-	-	LYST	NM_001301365,p.P3753L|uc001hxi.3,p.P977L|uc001hxj.3,p.P3753L|NM_000081,p.P3753L|ENST00000389793,p.P3753L|ENST00000389794,p.P3753L	retained_intron, protein_coding, processed_transcript	uc001hxj.3	nonsynonymous SNV	exon52	c.C11258T	p.P3753L	PVREITFPKSNKPIISLTFSCDGHH	PVREITFPKSNKLIISLTFSCDGHH	10.0	4.0	unscreened	-	3309_1:235827293-235827293 G>A_PVREITFPKSNKLIISLTFSCDGHH
9:131860888-131860888 G>A	1.0	3309	MELANOMA	-	-	-	-	CRAT	NM_000755,p.P376L|uc004bxk.4,p.P355L|NM_001257363,p.P355L|uc004bxh.3,p.P376L	protein_coding, processed_transcript, nonsense_mediated_decay	uc004bxk.4	nonsynonymous SNV	exon10	c.C1064T	p.P355L	KPELVRSPMVPLPMPKKLRFNITPE	KPELVRSPMVPLLMPKKLRFNITPE	7.0	9.0	unscreened	-	3309_9:131860888-131860888 G>A_KPELVRSPMVPLLMPKKLRFNITPE
6:125583982-125583982 G>A	1.0	3309	MELANOMA	-	-	-	-	TPD52L1	NM_001003396,p.R143Q|ENST00000368402,p.R143Q|uc003pzv.1,p.R143Q	retained_intron, protein_coding, processed_transcript	uc003pzv.1	nonsynonymous SNV	exon6	c.G428A	p.R143Q	SIRHSISMPAMRRK	SIRHSISMPAMRQK	6.0	6.0	unscreened	-	3309_6:125583982-125583982 G>A_SIRHSISMPAMRQK
12:122622826-122622826 C>T	1.0	3309	MELANOMA	-	-	-	-	MLXIP	NM_014938,p.S747F|uc001ubt.3,p.S354F|ENST00000538698,p.S354F|ENST00000319080,p.S747F|ENST00000366272,p.S218F|uc001ubq.3,p.S747F	retained_intron, protein_coding, processed_transcript	uc001ubt.3	nonsynonymous SNV	exon5	c.C1061T	p.S354F	IKMCFDMLNSLISNNSKLTSHAITL	IKMCFDMLNSLIFNNSKLTSHAITL	9.0	6.0	unscreened	-	3309_12:122622826-122622826 C>T_IKMCFDMLNSLIFNNSKLTSHAITL
15:42211515-42211515 G>C	1.0	3309	MELANOMA	-	-	-	-	EHD4	NM_139265,p.L273V|ENST00000220325,p.L273V|uc001zot.3,p.L273V	retained_intron, protein_coding	uc001zot.3	nonsynonymous SNV	exon4	c.C817G	p.L273V	WAQPLQNTDNRRLFEAEAQDLFRDI	WAQPLQNTDNRRVFEAEAQDLFRDI	9.0	10.0	unscreened	-	3309_15:42211515-42211515 G>C_WAQPLQNTDNRRVFEAEAQDLFRDI
19:9067485-9067485 G>A	1.0	3309	MELANOMA	-	-	-	2	MUC16	NM_024690,p.S6654F|ENST00000397910,p.S6654F|uc002mkp.3,p.S6654F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C19961T	p.S6654F	SEITRIEMESTFSLAHGLKGTSTSQ	SEITRIEMESTFFLAHGLKGTSTSQ	6.0	9.0	unscreened	-	3309_19:9067485-9067485 G>A_SEITRIEMESTFFLAHGLKGTSTSQ
1:227216862-227216862 G>A	1.0	3309	MELANOMA	-	-	-	-	CDC42BPA	uc001hqu.1,p.R482C|uc010pvs.2,p.R1255C|ENST00000366767,p.R1194C|ENST00000366766,p.R1310C|uc001hqr.3,p.R1275C|uc001hqp.3,p.R431C|ENST00000366769,p.R1275C|uc009xes.3,p.R1247C|uc001hqt.2,p.R153C|ENST00000366765,p.R1288C|ENST00000535525,p.R1255C|NM_014826,p.R1194C|NM_003607,p.R1275C|ENST00000334218,p.R1275C|uc001hqs.3,p.R1194C|ENST00000366764,p.R1247C|uc001hqq.3,p.R574C	protein_coding, processed_transcript	uc010pvs.2	nonsynonymous SNV	exon29	c.C3763T	p.R1255C	NDQLVAVISGRNRHVRLFPMSALDG	NDQLVAVISGRNCHVRLFPMSALDG	8.0	8.0	unscreened	-	3309_1:227216862-227216862 G>A_NDQLVAVISGRNCHVRLFPMSALDG
16:31384661-31384661 A>C	1.0	3309	MELANOMA	-	-	-	-	ITGAX	ENST00000562522,p.T820P|NM_000887,p.T820P|NM_001286375,p.T820P|ENST00000268296,p.T820P|uc002ebu.1,p.T820P|uc002ebt.3,p.T820P	retained_intron, protein_coding, processed_transcript	uc002ebu.1	nonsynonymous SNV	exon20	c.A2458C	p.T820P	WNDGEDSYGTTITFSHPAGLSYRYV	WNDGEDSYGTTIPFSHPAGLSYRYV	7.0	9.0	unscreened	-	3309_16:31384661-31384661 A>C_WNDGEDSYGTTIPFSHPAGLSYRYV
9:100232903-100232903 C>T	1.0	3309	MELANOMA	-	-	-	-	TDRD7	uc011lux.2,p.P491S|ENST00000355295,p.P565S|uc004axj.3,p.P565S|ENST00000422139,p.P491S|NM_014290,p.P565S	protein_coding, processed_transcript	uc011lux.2	nonsynonymous SNV	exon8	c.C1471T	p.P491S	ENVEKSKAYKLNPKFCSLSFQATKC	ENVEKSKAYKLNSKFCSLSFQATKC	7.0	4.0	unscreened	-	3309_9:100232903-100232903 C>T_ENVEKSKAYKLNSKFCSLSFQATKC
3:66460607-66460607 G>A	1.0	3309	MELANOMA	-	-	-	-	LRIG1	uc010hnz.3,p.S34F|NM_015541,p.S294F|uc003dmx.3,p.S294F|ENST00000383703,p.S294F|ENST00000273261,p.S294F|uc010hoa.3,p.S294F	retained_intron, protein_coding, processed_transcript	uc010hoa.3	nonsynonymous SNV	exon7	c.C881T	p.S294F	LTALHQLHLSNNSIARIHRKGWSFC	LTALHQLHLSNNFIARIHRKGWSFC	6.0	5.0	unscreened	-	3309_3:66460607-66460607 G>A_LTALHQLHLSNNFIARIHRKGWSFC
9:128725306-128725306 C>T	1.0	3309	MELANOMA	-	-	-	-	PBX3	ENST00000342287,p.S342L|uc004bqd.3,p.S161L|uc011lzx.2,p.S253L	protein_coding, processed_transcript, nonsense_mediated_decay	uc011lzx.2	nonsynonymous SNV	exon6	c.C758T	p.S253L	SPTTPNSGGYPPSCYQSDGRLQ	SPTTPNSGGYPPLCYQSDGRLQ	7.0	9.0	unscreened	-	3309_9:128725306-128725306 C>T_SPTTPNSGGYPPLCYQSDGRLQ
8:42026556-42026556 G>T	1.0	3309	MELANOMA	-	-	-	-	AP3M2	NM_001134296,p.G412W|ENST00000396926,p.G412W|uc003xoo.3,p.G412W|ENST00000520689,p.G42W|ENST00000518421,p.G412W|NM_006803,p.G412W|ENST00000174653,p.G412W|uc003xop.3,p.G412W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xop.3	nonsynonymous SNV	exon10	c.G1234T	p.G412W	KPFKGIKYMTKAGKFQVRT	KPFKGIKYMTKAWKFQVRT	9.0	2.0	unscreened	-	3309_8:42026556-42026556 G>T_KPFKGIKYMTKAWKFQVRT
7:65557029-65557060 GACATGCTGGCCACTGACCTTGCCTATTACCT>-	0.0	3309	MELANOMA	-	-	-	-	ASL	ENST00000395332,p.D367fs|ENST00000380839,p.D341fs|uc003tup.3,p.D367fs|ENST00000395331,p.D347fs|NM_000048,p.D367fs|uc003tur.3,p.D341fs|NM_001024943,p.D367fs|uc003tuq.3,p.D347fs|ENST00000304874,p.D367fs|uc003tuo.3,p.D367fs|NM_001024946,p.D341fs|NM_001024944,p.D347fs	 protein_coding,retained_intron, processed_transcript	uc003tur.3	frameshift deletion	exon13	c.1021_1052del	p.D341fs	IHQENMGQALSPDMLATDLAYYLVR	IHQENMGQALSPGPQRDAIPPGPRGLRESCVHGRDQGGRPQPAVTAGAADHQPPVLGRRDLRVGLRAQCGAVWCPGRHCALQRRLADPPGAGATAGTAGL	8.0	1.0	unscreened	-	3309_7:65557029-65557060 GACATGCTGGCCACTGACCTTGCCTATTACCT>-_IHQENMGQALSPGPQRDAIPPGPRGLRESCVHGRDQGGRPQPAVTAGAADHQPPVLGRRDLRVGLRAQCGAVWCPGRHCALQRRLADPPGAGATAGTAGL
18:67691999-67691999 G>A	1.0	3309	MELANOMA	-	-	-	-	RTTN	uc010dqp.2,p.S222F|uc002lkp.2,p.S1970F|NM_173630,p.S1970F|uc010xfb.1,p.S1058F|ENST00000255674,p.S1970F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xfb.1	nonsynonymous SNV	exon43	c.C3173T	p.S1058F	PWILMDDSLMQISLQLLCVYTANFP	PWILMDDSLMQIFLQLLCVYTANFP	6.0	6.0	unscreened	-	3309_18:67691999-67691999 G>A_PWILMDDSLMQIFLQLLCVYTANFP
11:85711695-85711695 G>A	1.0	3309	MELANOMA	-	-	-	1	PICALM	uc001pbm.3,p.S382F|uc010rtl.2,p.S331F|NM_001206947,p.S331F|NM_001008660,p.S382F|ENST00000356360,p.S382F|NM_007166,p.S382F|uc001pbn.3,p.S382F|ENST00000393346,p.S382F|ENST00000532317,p.S382F|ENST00000526033,p.S382F|ENST00000528398,p.S331F|uc001pbo.1,p.S14F|uc001pbl.3,p.S382F|uc010rtk.2,p.S14F|NM_001206946,p.S382F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rtl.2	nonsynonymous SNV	exon11	c.C992T	p.S331F	TAPAIDIFSTPSSSNSTSKLPNDLL	TAPAIDIFSTPSFSNSTSKLPNDLL	9.0	7.0	unscreened	-	3309_11:85711695-85711695 G>A_TAPAIDIFSTPSFSNSTSKLPNDLL
2:129026352-129026352 G>A	1.0	3309	MELANOMA	-	-	ID=COSM1305628;OCCURENCE=1(urinary_tract),1(large_intestine)	-	HS6ST1	ENST00000259241,p.S207L|NM_004807,p.S207L|uc002tpt.4,p.S207L	protein_coding, processed_transcript	uc002tpt.4	nonsynonymous SNV	exon2	c.C620T	p.S207L	WRHVQRGATWKTSLHMCDGRTPTPE	WRHVQRGATWKTLLHMCDGRTPTPE	6.0	4.0	unscreened	-	3309_2:129026352-129026352 G>A_WRHVQRGATWKTLLHMCDGRTPTPE
12:394762-394762 G>A	1.0	3309	MELANOMA	-	-	-	1	KDM5A	uc001qif.1,p.P1645S|ENST00000399788,p.P1645S|NM_001042603,p.P1645S	retained_intron, protein_coding, processed_transcript	uc001qif.1	nonsynonymous SNV	exon28	c.C4933T	p.P1645S	DEWFHQVCVGVSPEMAENEDYICIN	DEWFHQVCVGVSSEMAENEDYICIN	8.0	6.0	unscreened	-	3309_12:394762-394762 G>A_DEWFHQVCVGVSSEMAENEDYICIN
7:108213604-108213604 C>T	1.0	3309	MELANOMA	-	-	-	-	DNAJB9	NM_012328,p.S160F|uc003vfn.3,p.S160F|ENST00000249356,p.S160F	retained_intron, protein_coding, processed_transcript	uc003vfn.3	nonsynonymous SNV	exon3	c.C479T	p.S160F	GSSRQRHHFQEFSFGGGLFDDMFED	GSSRQRHHFQEFFFGGGLFDDMFED	8.0	3.0	unscreened	-	3309_7:108213604-108213604 C>T_GSSRQRHHFQEFFFGGGLFDDMFED
2:60773231-60773231 G>A	1.0	3309	MELANOMA	-	-	-	1	BCL11A	NM_018014,p.P87L|ENST00000335712,p.P87L|ENST00000356842,p.P87L|uc010fcg.3,p.P87L|uc002saf.1,p.P87L|ENST00000538214,p.P87L|uc010ypj.2,p.P87L|ENST00000358510,p.P87L|NM_138559,p.P87L|uc002sac.3,p.P87L|uc002sab.3,p.P87L|NM_022893,p.P87L|ENST00000359629,p.P87L|uc002sae.1,p.P87L	protein_coding, processed_transcript	uc010ypj.2	nonsynonymous SNV	exon2	c.C260T	p.P87L	LCLEKAVDKPPSPSPIEMKKASNPV	LCLEKAVDKPPSLSPIEMKKASNPV	2.0	9.0	unscreened	-	3309_2:60773231-60773231 G>A_LCLEKAVDKPPSLSPIEMKKASNPV
18:66378628-66378628 A>C	1.0	3309	MELANOMA	-	-	-	-	TMX3	uc002lkg.4,p.N38K|ENST00000564631,p.N38K|ENST00000562706,p.N38K|ENST00000299608,p.N38K|uc002lkf.3,p.N38K|ENST00000544714,p.N38K|ENST00000569053,p.N38K|ENST00000443099,p.N38K|NM_019022,p.N38K|uc010xfa.1,p.N38K|ENST00000565918,p.N38K|ENST00000569982,p.N18K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xfa.1	nonsynonymous SNV	exon3	c.T114G	p.N38K	GFVEDLDESFKENRNDDIWLVDFYA	GFVEDLDESFKEKRNDDIWLVDFYA	10.0	5.0	unscreened	-	3309_18:66378628-66378628 A>C_GFVEDLDESFKEKRNDDIWLVDFYA
7:43519339-43519339 G>A	1.0	3309	MELANOMA	-	-	-	-	HECW1	ENST00000453890,p.G1043E|NM_015052,p.G1077E|NM_001287059,p.G1043E|uc011kbi.1,p.G1043E|ENST00000395891,p.G1077E|uc003tid.1,p.G1077E	protein_coding, processed_transcript	uc011kbi.1	nonsynonymous SNV	exon15	c.G3128A	p.G1043E	RQHLQRLRSYSAGEASEVSRNRGAS	RQHLQRLRSYSAEEASEVSRNRGAS	6.0	5.0	unscreened	-	3309_7:43519339-43519339 G>A_RQHLQRLRSYSAEEASEVSRNRGAS
2:209168944-209168944 C>T	1.0	3309	MELANOMA	-	-	-	-	PIKFYVE	NM_001178000,p.S457F|uc002vcx.3,p.S371F|ENST00000452564,p.S457F|uc002vcv.3,p.S360F|NM_015040,p.S457F|ENST00000264380,p.S457F|uc002vcz.3,p.S457F|ENST00000308862,p.S371F|NM_152671,p.S360F|uc002vcw.3,p.S457F|uc010fun.1,p.S138F|ENST00000392202,p.S360F|ENST00000407449,p.S457F|uc002vcy.1,p.S457F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fun.1	nonsynonymous SNV	exon10	c.C413T	p.S138F	SETPSPDSDSVNSVEGHSEPSWFKD	SETPSPDSDSVNFVEGHSEPSWFKD	8.0	5.0	unscreened	-	3309_2:209168944-209168944 C>T_SETPSPDSDSVNFVEGHSEPSWFKD
2:128046256-128046256 C>T	1.0	3309	MELANOMA	-	-	-	1	ERCC3	ENST00000285398,p.G336E|uc002toh.1,p.G336E|uc010flx.1,p.G91E|ENST00000493187,p.G272E|uc002tof.1,p.G272E|uc002toe.1,p.G91E|uc002tog.1,p.G272E|NM_000122,p.G336E	retained_intron, protein_coding, nonsense_mediated_decay	uc010flx.1	nonsynonymous SNV	exon6	c.G272A	p.G91E	LRKMFGNGRARSGVIVLPCGAGKSL	LRKMFGNGRARSEVIVLPCGAGKSL	9.0	1.0	unscreened	-	3309_2:128046256-128046256 C>T_LRKMFGNGRARSEVIVLPCGAGKSL
17:8139627-8139627 G>A	1.0	3309	MELANOMA	-	-	-	-	CTC1	ENST00000315684,p.R276W|uc002gkq.4,p.R276W|ENST00000449476,p.R241W|NM_025099,p.R276W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gkq.4	nonsynonymous SNV	exon6	c.C826T	p.R276W	QVPAQLVWHRALRPGTAYVLTELRV	QVPAQLVWHRALWPGTAYVLTELRV	6.0	8.0	unscreened	-	3309_17:8139627-8139627 G>A_QVPAQLVWHRALWPGTAYVLTELRV
3:132233479-132233479 C>T	1.0	3309	MELANOMA	-	-	-	-	DNAJC13	uc003eor.3,p.S1817F|NM_015268,p.S1817F|ENST00000260818,p.S1817F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003eor.3	nonsynonymous SNV	exon46	c.C5450T	p.S1817F	DCVNNIAESMVLSSLLALLHSLPSS	DCVNNIAESMVLFSLLALLHSLPSS	8.0	7.0	unscreened	-	3309_3:132233479-132233479 C>T_DCVNNIAESMVLFSLLALLHSLPSS
18:66378628-66378628 A>C	1.0	3309	MELANOMA	-	-	-	-	TMX3	ENST00000564008,p.N38K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000564008	nonsynonymous SNV	exon3	c.T114G	p.N38K	GFVEDLDESFKENRNDDIWLVDALL	GFVEDLDESFKEKRNDDIWLVDALL	10.0	5.0	unscreened	-	3309_18:66378628-66378628 A>C_GFVEDLDESFKEKRNDDIWLVDALL
12:50513903-50513903 G>T	1.0	3309	MELANOMA	-	-	-	-	COX14	NM_001257134,p.G26V|NM_032901,p.G26V|ENST00000548985,p.G26V|uc001rwb.2,p.G26V|ENST00000317943,p.G26V|uc021qxs.1,p.G26V|ENST00000550487,p.G26V|uc031qhg.1,p.G26V|ENST00000550654,p.G26V|uc031qhh.1,p.G26V|NM_001257133,p.G26V	protein_coding, processed_transcript	uc031qhh.1	nonsynonymous SNV	exon2	c.G77T	p.G26V	TFSTSMMLLTVYGGYLCSVRVYHYF	TFSTSMMLLTVYVGYLCSVRVYHYF	9.0	7.0	unscreened	-	3309_12:50513903-50513903 G>T_TFSTSMMLLTVYVGYLCSVRVYHYF
9:7103713-7103713 A>G	1.0	3309	MELANOMA	-	-	-	-	KDM4C	uc003zkg.3,p.K818R|uc011lml.2,p.K505R|NM_001146694,p.K818R|ENST00000420847,p.K162R|ENST00000428870,p.K505R|ENST00000381306,p.K818R|uc003zkh.3,p.K818R|ENST00000442236,p.K563R|NM_015061,p.K818R|uc011lmk.2,p.K563R|ENST00000381309,p.K818R	protein_coding, processed_transcript, nonsense_mediated_decay	uc011lml.2	nonsynonymous SNV	exon11	c.A1514G	p.K505R	LKLKCIFCRHRVKRVSGACIQCSYG	LKLKCIFCRHRVRRVSGACIQCSYG	6.0	2.0	unscreened	-	3309_9:7103713-7103713 A>G_LKLKCIFCRHRVRRVSGACIQCSYG
20:33891845-33891845 C>T	1.0	3309	MELANOMA	-	-	-	-	UQCC1	ENST00000374377,p.E153K|uc010zuz.2,p.E110K|NM_199487,p.E239K|ENST00000407996,p.E128K|uc010zva.2,p.E128K|NM_001184977,p.E197K|uc002xcg.3,p.E131K|ENST00000397556,p.E166K|uc002xcd.3,p.E265K|uc010gfb.3,p.E239K|ENST00000359226,p.E185K|ENST00000349714,p.E238K|NM_018244,p.E265K|uc002xcc.3,p.E78K|ENST00000374384,p.E239K|ENST00000424405,p.E233K|ENST00000374380,p.E197K|ENST00000374385,p.E265K|ENST00000540457,p.E110K|uc010zuy.2,p.E166K|uc021wcl.1,p.E192K|uc002xcf.3,p.E153K|uc010zvb.2,p.E197K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wcl.1	nonsynonymous SNV	exon8	c.G574A	p.E192K	RKQIQYLDSMNGEDLLLTGEVSWRP	RKQIQYLDSMNGKDLLLTGEVSWRP	9.0	6.0	unscreened	-	3309_20:33891845-33891845 C>T_RKQIQYLDSMNGKDLLLTGEVSWRP
6:39859497-39859497 A>C	1.0	3309	MELANOMA	-	-	-	-	DAAM2	uc003oox.3,p.E780D|ENST00000398904,p.E780D|NM_015345,p.E780D|ENST00000538976,p.E780D|NM_001201427,p.E780D|ENST00000274867,p.E780D|uc003oow.3,p.E780D	retained_intron, protein_coding, processed_transcript	uc003oox.3	nonsynonymous SNV	exon19	c.A2340C	p.E780D	FQERLAEAKPKVEAILLASRELVRS	FQERLAEAKPKVDAILLASRELVRS	10.0	6.0	unscreened	-	3309_6:39859497-39859497 A>C_FQERLAEAKPKVDAILLASRELVRS
7:50799980-50799980 G>A	0.0	3309	MELANOMA	-	-	-	-	GRB10	NM_001001549,p.P14S|uc003tpk.2,p.P14S|uc003tpj.2,p.P14S|NM_005311,p.P14S|uc003tpi.2,p.P14S|ENST00000398812,p.P14S|ENST00000357271,p.P14S|ENST00000401949,p.P14S	retained_intron, protein_coding, processed_transcript	uc003tpk.2	nonsynonymous SNV	exon4	c.C40T	p.P14S	ALAGCPDSFLHHPYYQDKVEQTPRS	ALAGCPDSFLHHSYYQDKVEQTPRS	9.0	1.0	unscreened	-	3309_7:50799980-50799980 G>A_ALAGCPDSFLHHSYYQDKVEQTPRS
X:153006137-153006137 G>A	0.0	3309	MELANOMA	-	-	-	-	ABCD1	ENST00000218104,p.V582I|uc004fif.2,p.V582I|NM_000033,p.V582I	protein_coding	uc004fif.2	nonsynonymous SNV	exon7	c.G1744A	p.V582I	GYSEQDLEAILDVVHLHHILQREGG	GYSEQDLEAILDIVHLHHILQREGG	9.0	3.0	unscreened	-	3309_X:153006137-153006137 G>A_GYSEQDLEAILDIVHLHHILQREGG
19:9058561-9058561 G>A	1.0	3309	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.P9629S|uc002mkp.3,p.P9629S|NM_024690,p.P9629S	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C28885T	p.P9629S	RTEVMPSSRTSIPGPAQSTMSLDIS	RTEVMPSSRTSISGPAQSTMSLDIS	6.0	9.0	unscreened	-	3309_19:9058561-9058561 G>A_RTEVMPSSRTSISGPAQSTMSLDIS
4:40098982-40098982 C>T	1.0	3309	MELANOMA	-	-	-	-	N4BP2	ENST00000511480,p.L8F|ENST00000261435,p.L8F|uc003guy.4,p.L8F|NM_018177,p.L8F	protein_coding, nonsense_mediated_decay	uc003guy.4	nonsynonymous SNV	exon3	c.C22T	p.L8F	MPRRRKNLGGNPFRKTANPK	MPRRRKNFGGNPFRKTANPK	5.0	4.0	unscreened	-	3309_4:40098982-40098982 C>T_MPRRRKNFGGNPFRKTANPK
13:111156212-111156212 G>A	1.0	3309	MELANOMA	-	-	-	-	COL4A2	ENST00000360467,p.G1386E|uc001vqx.3,p.G1386E|NM_001846,p.G1386E	protein_coding, processed_transcript	uc001vqx.3	nonsynonymous SNV	exon44	c.G4157A	p.G1386E	GDPGFPGAPGTVGAPGIAGIPQKIA	GDPGFPGAPGTVEAPGIAGIPQKIA	10.0	6.0	unscreened	-	3309_13:111156212-111156212 G>A_GDPGFPGAPGTVEAPGIAGIPQKIA
3:73432977-73432977 G>A	1.0	3309	MELANOMA	-	-	-	-	PDZRN3	ENST00000535920,p.P636S|NM_015009,p.P914S|ENST00000466780,p.P571S|uc010hoe.1,p.P612S|ENST00000462146,p.P571S|uc021xaq.1,p.P207S|uc003dpl.1,p.P914S|uc011bgh.1,p.P571S|ENST00000263666,p.P914S|ENST00000479530,p.P631S|uc011bgf.1,p.P631S|uc011bgg.1,p.P634S	retained_intron, protein_coding, processed_transcript	uc021xaq.1	nonsynonymous SNV	exon1	c.C619T	p.P207S	LVSMCKDLSSPTPSEPRMEWKVKIR	LVSMCKDLSSPTSSEPRMEWKVKIR	7.0	6.0	unscreened	-	3309_3:73432977-73432977 G>A_LVSMCKDLSSPTSSEPRMEWKVKIR
5:61661115-61661115 C>T	1.0	3309	MELANOMA	-	-	-	-	KIF2A	uc010iwp.3,p.R486C|NM_004520,p.R505C|NM_001098511,p.R505C|uc010iwq.3,p.R308C|ENST00000401507,p.R505C|ENST00000506857,p.R459C|NM_001243953,p.R486C|uc003jsx.4,p.R485C|uc003jsz.4,p.R505C|ENST00000407818,p.R505C|uc003jsy.4,p.R505C|ENST00000381103,p.R485C|NM_001243952,p.R485C	retained_intron, protein_coding, processed_transcript	uc010iwq.3	nonsynonymous SNV	exon13	c.C922T	p.R308C	RALGRNKPHTPFRASKLTQVLRDSF	RALGRNKPHTPFCASKLTQVLRDSF	8.0	10.0	unscreened	-	3309_5:61661115-61661115 C>T_RALGRNKPHTPFCASKLTQVLRDSF
5:76332468-76332468 G>T	0.0	3309	MELANOMA	-	-	-	-	AGGF1	NM_018046,p.V202L|ENST00000312916,p.V202L|uc003ket.3,p.V202L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003ket.3	nonsynonymous SNV	exon4	c.G604T	p.V202L	LAESLRAAAEAAVSQTGFSYDENTG	LAESLRAAAEAALSQTGFSYDENTG	7.0	1.0	unscreened	-	3309_5:76332468-76332468 G>T_LAESLRAAAEAALSQTGFSYDENTG
2:131674161-131674161 G>A	1.0	3309	MELANOMA	-	-	-	-	ARHGEF4	uc002trz.1,p.G341E|uc010fmw.1,p.G341E|ENST00000409359,p.G551E	retained_intron, protein_coding, processed_transcript	uc010fmw.1	nonsynonymous SNV	exon1	c.G1022A	p.G341E	AGPAGAGHTGTSGDLGSRGPSSESC	AGPAGAGHTGTSEDLGSRGPSSESC	8.0	4.0	unscreened	-	3309_2:131674161-131674161 G>A_AGPAGAGHTGTSEDLGSRGPSSESC
16:47703160-47703160 T>C	1.0	3309	MELANOMA	-	-	-	-	PHKB	uc002eeu.4,p.V814A|ENST00000299167,p.V821A|ENST00000455779,p.V814A|ENST00000566044,p.V814A|NM_001031835,p.V814A|uc002eev.4,p.V821A|uc002eew.4,p.V62A|ENST00000323584,p.V821A|NM_000293,p.V821A|ENST00000566275,p.V128A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002eew.4	nonsynonymous SNV	exon2	c.T185C	p.V62A	QVTLGAFGHEEEVISNPLSPRVIQN	QVTLGAFGHEEEAISNPLSPRVIQN	8.0	1.0	unscreened	-	3309_16:47703160-47703160 T>C_QVTLGAFGHEEEAISNPLSPRVIQN
1:27739102-27739102 G>A	1.0	3309	MELANOMA	-	-	-	-	WASF2	uc010ofl.2,p.S263F|ENST00000536657,p.S263F|NM_001201404,p.S263F	protein_coding	uc010ofl.2	nonsynonymous SNV	exon7	c.C788T	p.S263F	QSDSASSPSPSFSEDNLPPPPAEFR	QSDSASSPSPSFFEDNLPPPPAEFR	9.0	8.0	unscreened	-	3309_1:27739102-27739102 G>A_QSDSASSPSPSFFEDNLPPPPAEFR
1:27739102-27739102 G>A	1.0	3309	MELANOMA	-	-	-	-	WASF2	NM_006990,p.S263F|uc001bof.2,p.S263F|ENST00000430629,p.S263F	protein_coding	uc001bof.2	nonsynonymous SNV	exon7	c.C788T	p.S263F	QSDSASSPSPSFSEDNLPPPPAEFS	QSDSASSPSPSFFEDNLPPPPAEFS	9.0	8.0	unscreened	-	3309_1:27739102-27739102 G>A_QSDSASSPSPSFFEDNLPPPPAEFS
3:49308714-49308714 T>G	1.0	3309	MELANOMA	-	-	-	-	C3orf62	NM_198562,p.S235R|ENST00000343010,p.S235R|uc003cwn.2,p.S235R|uc003cwm.2,p.S84R	retained_intron, protein_coding, nonsense_mediated_decay	uc003cwn.2	nonsynonymous SNV	exon3	c.A703C	p.S235R	KSPQKATDADPGSLKQAFDDHNIVE	KSPQKATDADPGRLKQAFDDHNIVE	5.0	3.0	unscreened	-	3309_3:49308714-49308714 T>G_KSPQKATDADPGRLKQAFDDHNIVE
14:23523522-23523522 G>A	1.0	3309	MELANOMA	-	-	-	-	CDH24	NM_022478,p.S267F|ENST00000267383,p.S267F|NM_144985,p.S267F|uc001win.3,p.S267F|ENST00000487137,p.S267F|uc010akf.3,p.S267F|ENST00000554034,p.S267F|ENST00000397359,p.S267F|uc001wil.3,p.S267F	protein_coding, processed_transcript	uc010akf.3	nonsynonymous SNV	exon6	c.C800T	p.S267F	NPPKFPQSLYQFSVVETAGPGTLVG	NPPKFPQSLYQFFVVETAGPGTLVG	6.0	7.0	unscreened	-	3309_14:23523522-23523522 G>A_NPPKFPQSLYQFFVVETAGPGTLVG
16:24820767-24820767 T>G	1.0	3309	MELANOMA	-	-	-	-	TNRC6A	uc002dmq.3,p.V213G|uc002dmp.3,p.V147G|ENST00000450465,p.V490G|uc010bxs.3,p.V1293G|ENST00000432286,p.V24G|ENST00000315183,p.V1497G|uc002dmn.3,p.V1244G|ENST00000395799,p.V1546G|uc002dmo.3,p.V1185G|uc002dmm.3,p.V1546G|NM_014494,p.V1546G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bxs.3	nonsynonymous SNV	exon15	c.T3878G	p.V1293G	RLRKWTTVDSISVNTSLDQNSSKHG	RLRKWTTVDSISGNTSLDQNSSKHG	8.0	9.0	unscreened	-	3309_16:24820767-24820767 T>G_RLRKWTTVDSISGNTSLDQNSSKHG
12:7252550-7252550 G>A	1.0	3309	MELANOMA	-	-	ID=COSM141368;OCCURENCE=1(upper_aerodigestive_tract)	-	C1RL	ENST00000544702,p.P188L|ENST00000266542,p.P188L|uc001qsn.3,p.P188L|NM_016546,p.P188L|NM_001297642,p.P188L|ENST00000545280,p.P72L|uc009zft.3,p.P188L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zft.3	nonsynonymous SNV	exon4	c.C563T	p.P188L	RGSEAINAPGDNPAKVQNHCQEPYY	RGSEAINAPGDNLAKVQNHCQEPYY	5.0	3.0	unscreened	-	3309_12:7252550-7252550 G>A_RGSEAINAPGDNLAKVQNHCQEPYY
4:1388504-1388505 CG>-	0.0	3309	MELANOMA	-	-	ID=COSM1427136;OCCURENCE=12(large_intestine)	-	CRIPAK	NM_175918,p.R69fs|uc003gdf.2,p.R69fs|ENST00000324803,p.R69fs	protein_coding	uc003gdf.2	frameshift deletion	exon1	c.205_206del	p.R69fs	TRAHVECPPAHTRVHVECPPAHVPM	TRAHVECPPAHTCPCGVPTCSCAHVECPPAHMCRCGVPPAHTRAHVECPPAHVPMWSARLLTRADAECPPAHTCPCGVPACSHVPMRSARLLTRAHAECPPAHTCRRGVPACSHVPMWSARLLTRANVECPPDHTCPCGVLACSHVPMWSACLLTRAHVECSPAHTCRCGVPACSHVPMRSARLLTRAHVECPPAHVPMWSARLLTRAHVECPPAHVPMWGARLLTCADVECPPAHTCPCGVPACSHVPTWSARLLTCPYGVPACSHVPLWSARLLTHMPMWSARLLTRAHVECPPAHTCPCGVPACSHTCPCGVPACSHVPMWSACLLTHVPMWSARLLTQSPGMVVL	5.0	1.0	unscreened	-	3309_4:1388504-1388505 CG>-_TRAHVECPPAHTCPCGVPTCSCAHVECPPAHMCRCGVPPAHTRAHVECPPAHVPMWSARLLTRADAECPPAHTCPCGVPACSHVPMRSARLLTRAHAECPPAHTCRRGVPACSHVPMWSARLLTRANVECPPDHTCPCGVLACSHVPMWSACLLTRAHVECSPAHTCRCGVPACSHVPMRSARLLTRAHVECPPAHVPMWSARLLTRAHVECPPAHVPMWGARLLTCADVECPPAHTCPCGVPACSHVPTWSARLLTCPYGVPACSHVPLWSARLLTHMPMWSARLLTRAHVECPPAHTCPCGVPACSHTCPCGVPACSHVPMWSACLLTHVPMWSARLLTQSPGMVVL
7:156468489-156468489 C>T	0.0	3309	MELANOMA	-	-	-	-	RNF32	uc003wmr.3,p.L262F|ENST00000432459,p.L262F|uc003wmq.3,p.L262F|ENST00000343665,p.L238F|uc010lqm.3,p.L262F|NM_030936,p.L262F|ENST00000392743,p.L262F|NM_001184997,p.L262F|ENST00000405335,p.L262F|ENST00000317955,p.L262F|ENST00000311822,p.L262F|uc003wmo.3,p.L262F|NM_001184996,p.L262F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lqm.3	nonsynonymous SNV	exon8	c.C784T	p.L262F	EIDQCLAINRSVLQQLEEKCGHEIT	EIDQCLAINRSVFQQLEEKCGHEIT	5.0	1.0	unscreened	-	3309_7:156468489-156468489 C>T_EIDQCLAINRSVFQQLEEKCGHEIT
3:49308713-49308713 C>T	1.0	3309	MELANOMA	-	-	-	-	C3orf62	ENST00000343010,p.S235N|NM_198562,p.S235N|uc003cwn.2,p.S235N|uc003cwm.2,p.S84N	retained_intron, protein_coding, nonsense_mediated_decay	uc003cwn.2	nonsynonymous SNV	exon3	c.G704A	p.S235N	KSPQKATDADPGSLKQAFDDHNIVE	KSPQKATDADPGNLKQAFDDHNIVE	5.0	3.0	unscreened	-	3309_3:49308713-49308713 C>T_KSPQKATDADPGNLKQAFDDHNIVE
1:82415914-82415914 T>C	0.0	3309	MELANOMA	-	-	-	-	LPHN2	ENST00000370717,p.F414L|ENST00000394879,p.F414L|uc009wcd.3,p.F414L|ENST00000370730,p.F414L|uc001diu.3,p.F414L|ENST00000335786,p.F414L|NM_012302,p.F414L|ENST00000370715,p.F414L|uc001dit.4,p.F414L|uc001div.3,p.F414L|ENST00000370725,p.F414L|ENST00000370713,p.F414L|NM_001297704,p.F414L|ENST00000359929,p.F414L|ENST00000370728,p.F414L|ENST00000271029,p.F414L|ENST00000370727,p.F414L|NM_001297705,p.F414L|ENST00000370723,p.F414L|NM_001297706,p.F414L|ENST00000319517,p.F414L	protein_coding, processed_transcript	uc009wcd.3	nonsynonymous SNV	exon6	c.T1240C	p.F414L	TTAVTITSSAELFKTIISTTSTTSQ	TTAVTITSSAELLKTIISTTSTTSQ	1.0	8.0	unscreened	-	3309_1:82415914-82415914 T>C_TTAVTITSSAELLKTIISTTSTTSQ
19:9524634-9524634 G>A	0.0	3309	MELANOMA	-	-	-	-	ZNF266	uc002mlo.4,p.P323S|NM_001271314,p.P323S|ENST00000592904,p.P323S|ENST00000588221,p.P323S|uc010dwq.4,p.P323S|ENST00000592292,p.P323S|ENST00000361451,p.P323S|ENST00000588933,p.P323S|uc002mlm.4,p.P323S|ENST00000361151,p.P323S|ENST00000590306,p.P323S|NM_006631,p.P323S|uc002mll.4,p.P323S	protein_coding, processed_transcript	uc010dwq.4	nonsynonymous SNV	exon9	c.C967T	p.P323S	LTEHLKTHTAKDPFECKICGKSFRN	LTEHLKTHTAKDSFECKICGKSFRN	6.0	2.0	unscreened	-	3309_19:9524634-9524634 G>A_LTEHLKTHTAKDSFECKICGKSFRN
12:21615769-21615786 CTGGCAGCTGAGCCCAGT>-	0.0	3309	MELANOMA	-	-	-	-	PYROXD1	ENST00000538582,p.292_298del|uc009ziq.3,p.104_110del|uc001rew.3,p.363_369del|NM_024854,p.363_369del|ENST00000240651,p.363_369del	retained_intron, protein_coding, nonsense_mediated_decay	uc009ziq.3	nonframeshift deletion	exon9	c.312_329del	p.104_110del	PDIYAAGDICTTSWQLSPVWQQMRL	PDIYAAGDICTTSWQQMRLWTQARQ	7.0	1.0	unscreened	-	3309_12:21615769-21615786 CTGGCAGCTGAGCCCAGT>-_PDIYAAGDICTTSWQQMRLWTQARQ
7:100644211-100644211 C>T	0.0	3309	MELANOMA	-	rs56147919	-	-	MUC12	ENST00000536621,p.T3456M|NM_001164462,p.T3456M|ENST00000379442,p.T3599M|uc003uxo.3,p.T3456M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.C10367T	p.T3456M	SMETTALPGSTTTPGLSEKSTTFHS	SMETTALPGSTTMPGLSEKSTTFHS	4.0	1.0	unscreened	-	3309_7:100644211-100644211 C>T_SMETTALPGSTTMPGLSEKSTTFHS
11:76637610-76637610 T>G	1.0	3309	MELANOMA	-	-	-	-	ACER3	ENST00000525194,p.S50R|ENST00000531352,p.S50R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000531352	nonsynonymous SNV	exon3	c.T150G	p.S50R	LPSSLKSNLKEYSE	LPSSLKSNLKEYRE	7.0	1.0	unscreened	-	3309_11:76637610-76637610 T>G_LPSSLKSNLKEYRE
1:115829311-115829311 G>A	0.0	3309	MELANOMA	-	-	-	-	NGF	uc021osd.1,p.H36Y|uc001efu.1,p.H36Y|NM_002506,p.H36Y|ENST00000369512,p.H36Y	protein_coding	uc021osd.1	nonsynonymous SNV	exon1	c.C106T	p.H36Y	SNVPAGHTIPQAHWTKLQHSLDTAL	SNVPAGHTIPQAYWTKLQHSLDTAL	1.0	10.0	unscreened	-	3309_1:115829311-115829311 G>A_SNVPAGHTIPQAYWTKLQHSLDTAL
14:105419810-105419810 C>T	1.0	3309	MELANOMA	-	-	-	-	AHNAK2	ENST00000333244,p.E660K|uc010axc.1,p.E660K|uc001ypx.2,p.E560K|NM_138420,p.E660K	retained_intron, protein_coding	uc010axc.1	nonsynonymous SNV	exon7	c.G1978A	p.E660K	IQLIHDEKRLKKEQILTEKEVATKD	IQLIHDEKRLKKKQILTEKEVATKD	7.0	1.0	unscreened	-	3309_14:105419810-105419810 C>T_IQLIHDEKRLKKKQILTEKEVATKD
1:158436102-158436102 C>T	0.0	3309	MELANOMA	-	-	-	-	OR10K1	NM_001004473,p.H251Y|ENST00000289451,p.H251Y|uc010pij.2,p.H251Y	protein_coding	uc010pij.2	nonsynonymous SNV	exon1	c.C751T	p.H251Y	STCASHLIVVTVHYSCASFIYLRPK	STCASHLIVVTVYYSCASFIYLRPK	1.0	1.0	unscreened	-	3309_1:158436102-158436102 C>T_STCASHLIVVTVYYSCASFIYLRPK
10:101716260-101716260 G>A	1.0	3309	MELANOMA	-	-	-	-	DNMBP	ENST00000342239,p.S324F|ENST00000324109,p.S324F|uc001kqj.2,p.S324F|NM_015221,p.S324F	protein_coding, processed_transcript	uc001kqj.2	nonsynonymous SNV	exon4	c.C971T	p.S324F	PQEGSLARIPETSLDCLENTLGVEE	PQEGSLARIPETFLDCLENTLGVEE	5.0	10.0	unscreened	-	3309_10:101716260-101716260 G>A_PQEGSLARIPETFLDCLENTLGVEE
1:240370775-240370775 T>G	0.0	3309	MELANOMA	-	-	-	-	FMN2	uc010pye.2,p.V892G|NM_020066,p.V888G|ENST00000319653,p.V888G|uc010pyd.2,p.V888G	protein_coding, processed_transcript	uc010pye.2	nonsynonymous SNV	exon6	c.T2675G	p.V892G	VPPPPPPLPGMTVPTLPSTAIPQPP	VPPPPPPLPGMTGPTLPSTAIPQPP	9.0	1.0	unscreened	-	3309_1:240370775-240370775 T>G_VPPPPPPLPGMTGPTLPSTAIPQPP
2:21236086-21236086 G>A	0.0	3309	MELANOMA	-	-	ID=COSM227996;OCCURENCE=1(NS),2(skin)	-	APOB	uc002red.3,p.R1388C|NM_000384,p.R1388C|ENST00000233242,p.R1388C	protein_coding	uc002red.3	nonsynonymous SNV	exon25	c.C4162T	p.R1388C	GNTSTDHFSLRARYHMKADSVVDLL	GNTSTDHFSLRACYHMKADSVVDLL	1.0	8.0	unscreened	-	3309_2:21236086-21236086 G>A_GNTSTDHFSLRACYHMKADSVVDLL
2:31467287-31467298 CAACGCCTTTGG>-	0.0	3309	MELANOMA	-	-	-	-	EHD3	ENST00000541626,p.125_129del|NM_014600,p.125_129del|uc010ymt.2,p.125_129del|ENST00000322054,p.125_129del|uc002rnu.3,p.125_129del	protein_coding	uc010ymt.2	nonframeshift deletion	exon2	c.375_386del	p.125_129del	ALVVDPKKPFRKLNAFGNAFLNRFV	ALVVDPKKPFRKLNAFLNRFVCAQL	6.0	4.0	unscreened	-	3309_2:31467287-31467298 CAACGCCTTTGG>-_ALVVDPKKPFRKLNAFLNRFVCAQL
15:101592077-101592077 G>A	1.0	3309	MELANOMA	-	-	-	-	LRRK1	NM_024652,p.D1201N|ENST00000284395,p.D1198N|ENST00000388948,p.D1201N|uc002bwr.3,p.D1201N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bwr.3	nonsynonymous SNV	exon24	c.G3601A	p.D1201N	DMEDCVLTAIERDFISCPRHPDLPV	DMEDCVLTAIERNFISCPRHPDLPV	6.0	10.0	unscreened	-	3309_15:101592077-101592077 G>A_DMEDCVLTAIERNFISCPRHPDLPV
7:100204148-100204148 A>G	1.0	3309	MELANOMA	-	-	-	-	PCOLCE	uc003uvo.3,p.K279E|NM_002593,p.K279E|ENST00000223061,p.K279E	retained_intron, protein_coding, processed_transcript	uc003uvo.3	nonsynonymous SNV	exon6	c.A835G	p.K279E	SASYKTLPRGTAKEGQGPGPKRGTE	SASYKTLPRGTAEEGQGPGPKRGTE	10.0	2.0	unscreened	-	3309_7:100204148-100204148 A>G_SASYKTLPRGTAEEGQGPGPKRGTE
14:24734840-24734840 A>G	1.0	3309	MELANOMA	-	-	-	-	RABGGTA	NM_182836,p.V562A|ENST00000216840,p.V562A|ENST00000399409,p.V562A|ENST00000560777,p.V171A|uc001wog.4,p.V562A|NM_004581,p.V562A|uc001wof.4,p.V562A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, ambiguous_orf	uc001wog.4	nonsynonymous SNV	exon17	c.T1685C	p.V562A	GILEQLAELLPSVSSVLT	GILEQLAELLPSASSVLT	8.0	8.0	unscreened	-	3309_14:24734840-24734840 A>G_GILEQLAELLPSASSVLT
1:66058440-66058440 C>T	1.0	3309	MELANOMA	-	-	-	-	LEPR	ENST00000371060,p.P199S|uc021ool.1,p.P199S|NM_001198688,p.P199S|NM_002303,p.P199S|ENST00000349533,p.P199S|uc001dcg.3,p.P199S|NM_001003679,p.P199S|ENST00000344610,p.P199S|NM_001198689,p.P199S|NM_001198687,p.P199S|uc001dcj.3,p.P199S|NM_001003680,p.P199S|uc001dch.3,p.P199S|uc001dci.3,p.P199S|uc001dck.3,p.P199S|ENST00000371059,p.P199S|ENST00000371058,p.P199S	protein_coding, processed_transcript	uc021ool.1	nonsynonymous SNV	exon5	c.C595T	p.P199S	NCSVHECCECLVPVPTAKLNDTLLM	NCSVHECCECLVSVPTAKLNDTLLM	4.0	6.0	unscreened	-	3309_1:66058440-66058440 C>T_NCSVHECCECLVSVPTAKLNDTLLM
1:26595029-26595029 C>T	1.0	3309	MELANOMA	-	-	-	-	CEP85	uc001bls.1,p.S466L|NM_001281517,p.S415L|uc001blr.3,p.S466L|NM_022778,p.S466L|uc010ofa.1,p.S415L|ENST00000252992,p.S466L|ENST00000476272,p.S466L|ENST00000451429,p.S415L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ofa.1	nonsynonymous SNV	exon7	c.C1244T	p.S415L	HINNLKKKCQKESEQNREKQQRIET	HINNLKKKCQKELEQNREKQQRIET	9.0	1.0	unscreened	-	3309_1:26595029-26595029 C>T_HINNLKKKCQKELEQNREKQQRIET
6:152841665-152841665 C>T	0.0	3309	MELANOMA	-	-	-	-	SYNE1	ENST00000367248,p.G80R|NM_182961,p.G80R|uc003qou.4,p.G80R|uc003qot.4,p.G80R|ENST00000537750,p.G80R|ENST00000413186,p.G80R|ENST00000367255,p.G80R|ENST00000423061,p.G80R|ENST00000367253,p.G80R|NM_033071,p.G80R|ENST00000341594,p.G80R|ENST00000448038,p.G80R|ENST00000466159,p.G80R|uc010kjb.1,p.G80R|uc031sql.1,p.G80R|uc003qpa.1,p.G80R|ENST00000265368,p.G80R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031sql.1	nonsynonymous SNV	exon6	c.G238A	p.G80R	EVLSGQKLPCEQGRRMKRIHAVANI	EVLSGQKLPCEQRRRMKRIHAVANI	7.0	8.0	unscreened	-	3309_6:152841665-152841665 C>T_EVLSGQKLPCEQRRRMKRIHAVANI
17:80141804-80141804 G>A	1.0	3309	MELANOMA	-	-	-	-	CCDC57	uc002kdz.1,p.R353C|ENST00000392343,p.R353C|NM_198082,p.R353C|uc002kdx.1,p.R353C|ENST00000389641,p.R353C|ENST00000392347,p.R353C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kdz.1	nonsynonymous SNV	exon9	c.C1057T	p.R353C	TAKEKDAAIDQLREDASTVKSAWDA	TAKEKDAAIDQLCEDASTVKSAWDA	8.0	5.0	unscreened	-	3309_17:80141804-80141804 G>A_TAKEKDAAIDQLCEDASTVKSAWDA
15:34678911-34678911 C>G	1.0	3309	MELANOMA	-	rs147828722	-	-	GOLGA8A	ENST00000360553,p.R67P|uc001zii.3,p.R67P|ENST00000359187,p.R67P|NM_181077,p.R67P	retained_intron, protein_coding, processed_transcript	uc001zii.3	nonsynonymous SNV	exon3	c.G200C	p.R67P	EASSSASSSLHARQSPCQEQAAVLN	EASSSASSSLHAPQSPCQEQAAVLN	9.0	3.0	unscreened	-	3309_15:34678911-34678911 C>G_EASSSASSSLHAPQSPCQEQAAVLN
15:34678911-34678911 C>G	1.0	3309	MELANOMA	-	rs147828722	-	-	GOLGA8A	ENST00000432566,p.R97P	retained_intron, protein_coding, processed_transcript	ENST00000432566	nonsynonymous SNV	exon2	c.G290C	p.R97P	PKSSSASSSLHARQSPCQEQAAVLN	PKSSSASSSLHAPQSPCQEQAAVLN	9.0	3.0	unscreened	-	3309_15:34678911-34678911 C>G_PKSSSASSSLHAPQSPCQEQAAVLN
4:1920187-1920187 C>T	1.0	3309	MELANOMA	-	-	-	1	WHSC1	uc003gdx.3,p.P416L|ENST00000398261,p.P416L|uc010icd.1,p.P416L|uc003gec.4,p.P416L|uc003gea.1,p.P416L|uc003ged.4,p.P416L|ENST00000503128,p.P416L|ENST00000514045,p.P416L|NM_133334,p.P416L|NM_001042424,p.P416L|ENST00000353275,p.P416L|ENST00000382895,p.P416L|ENST00000382892,p.P416L|NM_133331,p.P416L|NM_133335,p.P416L|ENST00000420906,p.P416L|uc010ice.1,p.P416L|uc003gdy.1,p.P416L|uc003gdz.4,p.P416L|NM_133330,p.P416L|uc003geh.1,p.P416L|ENST00000382891,p.P416L|NM_007331,p.P416L|uc003geb.4,p.P416L|ENST00000508803,p.P416L|ENST00000312087,p.P416L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ice.1	nonsynonymous SNV	exon5	c.C1247T	p.P416L	KLCSSAETLESHPDIGKSTPQKTAE	KLCSSAETLESHLDIGKSTPQKTAE	8.0	5.0	unscreened	-	3309_4:1920187-1920187 C>T_KLCSSAETLESHLDIGKSTPQKTAE
X:153006141-153006141 T>A	0.0	3309	MELANOMA	-	-	-	-	ABCD1	ENST00000218104,p.V583E|NM_000033,p.V583E|uc004fif.2,p.V583E	protein_coding	uc004fif.2	nonsynonymous SNV	exon7	c.T1748A	p.V583E	YSEQDLEAILDVVHLHHILQREGGW	YSEQDLEAILDVEHLHHILQREGGW	9.0	3.0	unscreened	-	3309_X:153006141-153006141 T>A_YSEQDLEAILDVEHLHHILQREGGW
19:55450632-55450632 C>T	0.0	3309	MELANOMA	-	-	-	-	NLRP7	ENST00000592784,p.G519R|ENST00000328092,p.G519R|NM_139176,p.G519R|NM_001127255,p.G519R|ENST00000446217,p.G547R|uc002qih.4,p.G519R|NM_206828,p.G519R|uc002qig.4,p.G519R|ENST00000590030,p.G519R|ENST00000586379,p.G519R|uc010esk.3,p.G519R|ENST00000340844,p.G519R|uc010esl.3,p.G547R|uc002qii.4,p.G519R|ENST00000448121,p.G519R|ENST00000588756,p.G519R	protein_coding, nonsense_mediated_decay	uc010esl.3	nonsynonymous SNV	exon6	c.G1639A	p.G547R	EERLKNPDLIQVGHFLFGLANEKRA	EERLKNPDLIQVRHFLFGLANEKRA	1.0	10.0	unscreened	-	3309_19:55450632-55450632 C>T_EERLKNPDLIQVRHFLFGLANEKRA
19:58117801-58117801 C>T	1.0	3309	MELANOMA	-	-	-	-	ZNF530	NM_020880,p.S303F|ENST00000332854,p.S303F|ENST00000600619,p.S303F|uc002qpk.2,p.S303F	retained_intron, protein_coding, nonsense_mediated_decay	uc002qpk.2	nonsynonymous SNV	exon3	c.C908T	p.S303F	GERPYDCSECGKSFRQVSVLIQHQR	GERPYDCSECGKFFRQVSVLIQHQR	4.0	2.0	unscreened	-	3309_19:58117801-58117801 C>T_GERPYDCSECGKFFRQVSVLIQHQR
3:185212458-185212458 G>A	1.0	3309	MELANOMA	-	-	-	-	TMEM41A	NM_080652,p.P176L|ENST00000421852,p.P176L|uc003fpj.2,p.P176L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003fpj.2	nonsynonymous SNV	exon4	c.C527T	p.P176L	PMTPNWFLNLSAPILNIPIVQFFFS	PMTPNWFLNLSALILNIPIVQFFFS	7.0	5.0	unscreened	-	3309_3:185212458-185212458 G>A_PMTPNWFLNLSALILNIPIVQFFFS
10:64913574-64913574 C>T	1.0	3309	MELANOMA	-	-	-	-	NRBF2	uc010qip.2,p.P144S|uc001jmj.4,p.P154S|NM_001282405,p.P144S|ENST00000435510,p.P144S|ENST00000277746,p.P154S|NM_030759,p.P154S	protein_coding	uc010qip.2	nonsynonymous SNV	exon3	c.C430T	p.P144S	LYLLQQKSEPAEPCIGSKAPKDDKT	LYLLQQKSEPAESCIGSKAPKDDKT	9.0	2.0	unscreened	-	3309_10:64913574-64913574 C>T_LYLLQQKSEPAESCIGSKAPKDDKT
8:3245016-3245016 C>A	0.0	3309	MELANOMA	-	-	-	-	CSMD1	uc022aqr.1,p.A928S|ENST00000520002,p.A929S|ENST00000602557,p.A929S|ENST00000602723,p.A929S|uc003wqe.3,p.A85S|uc011kwj.2,p.A321S|ENST00000542608,p.A928S|ENST00000537824,p.A928S|ENST00000400186,p.A929S|ENST00000539096,p.A928S|NM_033225,p.A928S	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon18	c.G2782T	p.A928S	NHQWNHALPSCDALCGGYIQGKSGT	NHQWNHALPSCDSLCGGYIQGKSGT	5.0	3.0	unscreened	-	3309_8:3245016-3245016 C>A_NHQWNHALPSCDSLCGGYIQGKSGT
3:184298530-184298530 C>T	0.0	3309	MELANOMA	-	-	-	-	EPHB3	ENST00000330394,p.P801L|uc003foz.3,p.P801L|NM_004443,p.P801L	retained_intron, protein_coding	uc003foz.3	nonsynonymous SNV	exon13	c.C2402T	p.P801L	DPTYTSSLGGKIPIRWTAPEAIAYR	DPTYTSSLGGKILIRWTAPEAIAYR	6.0	6.0	unscreened	-	3309_3:184298530-184298530 C>T_DPTYTSSLGGKILIRWTAPEAIAYR
19:16860751-16860751 T>G	0.0	3309	MELANOMA	-	-	-	-	NWD1	uc002neu.4,p.V433G|ENST00000339803,p.V298G|NM_001007525,p.V433G|uc002net.4,p.V298G|NM_001290355,p.V298G|uc002nev.4,p.V227G|ENST00000549814,p.V433G|ENST00000523826,p.V227G|ENST00000552788,p.V433G|ENST00000524140,p.V433G|ENST00000379808,p.V433G	protein_coding, nonsense_mediated_decay	uc002nev.4	nonsynonymous SNV	exon5	c.T680G	p.V227G	LHTVSCRNFESLVLLLDAMDDLDSV	LHTVSCRNFESLGLLLDAMDDLDSV	1.0	10.0	unscreened	-	3309_19:16860751-16860751 T>G_LHTVSCRNFESLGLLLDAMDDLDSV
8:61137123-61137123 A>C	1.0	3309	MELANOMA	-	-	-	-	CA8	ENST00000317995,p.C200G|uc003xtz.1,p.C200G|NM_004056,p.C200G|uc003xua.1,p.C200G	retained_intron, protein_coding, processed_transcript	uc003xua.1	nonsynonymous SNV	exon6	c.T598G	p.C200G	DIQYKGKSKTIPCFNPNTLLPDPLL	DIQYKGKSKTIPGFNPNTLLPDPLL	7.0	2.0	unscreened	-	3309_8:61137123-61137123 A>C_DIQYKGKSKTIPGFNPNTLLPDPLL
2:135763056-135763056 C>T	0.0	3309	MELANOMA	-	-	-	-	MAP3K19	NM_025052,p.E62K|uc002tui.4,p.E79K|NM_001018046,p.E62K|ENST00000392915,p.E79K|ENST00000375844,p.E62K|NM_001018047,p.E62K|ENST00000392918,p.E62K|NM_001018044,p.E62K|uc010fnd.1,p.E62K|uc010fne.1,p.E34K|uc002tuf.1,p.E62K|ENST00000375845,p.E62K|ENST00000425952,p.E34K|ENST00000358371,p.E62K|ENST00000392917,p.E62K|NM_001282883,p.E62K|uc010fnc.1,p.E62K|uc010zbg.1,p.E62K|uc002tue.1,p.E62K	retained_intron, protein_coding, processed_transcript	uc010zbg.1	nonsynonymous SNV	exon3	c.G184A	p.E62K	QDGDCSHSTLVNEEEDPSGGRQDWQ	QDGDCSHSTLVNKEEDPSGGRQDWQ	1.0	1.0	unscreened	-	3309_2:135763056-135763056 C>T_QDGDCSHSTLVNKEEDPSGGRQDWQ
7:128452082-128452082 C>T	0.0	3309	MELANOMA	-	-	-	-	CCDC136	uc003vnx.2,p.P569S|ENST00000297788,p.P753S|uc003vnv.2,p.P753S|ENST00000464672,p.P344S|uc010llq.2,p.P122S|NM_022742,p.P753S|uc003vny.2,p.P363S	retained_intron, protein_coding, processed_transcript	uc010llq.2	nonsynonymous SNV	exon10	c.C364T	p.P122S	LESYGKSYGSMVPSNENCRKTYDTT	LESYGKSYGSMVSSNENCRKTYDTT	6.0	4.0	unscreened	-	3309_7:128452082-128452082 C>T_LESYGKSYGSMVSSNENCRKTYDTT
22:36689833-36689833 G>A	1.0	3309	MELANOMA	0.0005	-	ID=COSM1416045;OCCURENCE=1(large_intestine)	1	MYH9	uc003apg.3,p.A1305V|NM_002473,p.A1305V|ENST00000216181,p.A1305V	retained_intron, protein_coding, processed_transcript	uc003apg.3	nonsynonymous SNV	exon29	c.C3914T	p.A1305V	DSKSSKLTKDFSALESQLQDTQELL	DSKSSKLTKDFSVLESQLQDTQELL	10.0	5.0	unscreened	-	3309_22:36689833-36689833 G>A_DSKSSKLTKDFSVLESQLQDTQELL
9:109691030-109691030 C>T	1.0	3309	MELANOMA	-	-	-	-	ZNF462	uc004bcz.3,p.P1613S|NM_021224,p.P1613S|uc004bda.3,p.P1461S|ENST00000441147,p.P458S|ENST00000374686,p.P496S|ENST00000457913,p.P1613S|uc010mto.3,p.P1461S|ENST00000277225,p.P1613S	protein_coding, processed_transcript	uc010mto.3	nonsynonymous SNV	exon1	c.C4381T	p.P1461S	NQPEFDVFSQSPPKLPVPLEPEMTT	NQPEFDVFSQSPSKLPVPLEPEMTT	6.0	4.0	unscreened	-	3309_9:109691030-109691030 C>T_NQPEFDVFSQSPSKLPVPLEPEMTT
16:57060222-57060222 C>T	0.0	3309	MELANOMA	-	-	-	-	NLRC5	NM_032206,p.S456F|ENST00000539881,p.S456F|uc021tit.1,p.S456F|ENST00000262510,p.S456F|ENST00000539144,p.S456F|ENST00000436936,p.S456F|uc021tiu.1,p.S456F|ENST00000308149,p.S456F|uc021tiw.1,p.S261F|uc021tiv.1,p.S261F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tiw.1	nonsynonymous SNV	exon1	c.C782T	p.S261F	LALSPPGHLPTSSLLDLGEVALRGL	LALSPPGHLPTSFLLDLGEVALRGL	6.0	3.0	unscreened	-	3309_16:57060222-57060222 C>T_LALSPPGHLPTSFLLDLGEVALRGL
19:38385294-38385294 C>T	0.0	3309	MELANOMA	-	-	-	-	WDR87	uc002ohj.2,p.R350H|NM_001291088,p.R350H|NM_031951,p.R311H|ENST00000447313,p.R350H|ENST00000303868,p.R311H|uc010efu.2,p.R311H	retained_intron, protein_coding	uc010efu.2	nonsynonymous SNV	exon4	c.G932A	p.R311H	FFCQTAHSFSLHRLPCFYSLFNVCG	FFCQTAHSFSLHHLPCFYSLFNVCG	1.0	6.0	unscreened	-	3309_19:38385294-38385294 C>T_FFCQTAHSFSLHHLPCFYSLFNVCG
15:42284976-42284976 C>T	0.0	3309	MELANOMA	-	-	-	-	PLA2G4E	NM_001206670,p.D477N|uc021sjp.1,p.D477N|ENST00000399518,p.D477N|uc001zov.2,p.D101N|ENST00000413860,p.D448N	retained_intron, protein_coding	uc021sjp.1	nonsynonymous SNV	exon13	c.G1429A	p.D477N	QRSQEGYRVTFTDFWGLLIETCLGD	QRSQEGYRVTFTNFWGLLIETCLGD	1.0	10.0	unscreened	-	3309_15:42284976-42284976 C>T_QRSQEGYRVTFTNFWGLLIETCLGD
17:3629561-3629561 C>T	1.0	3309	MELANOMA	-	-	-	-	GSG2	NM_031965,p.H778Y|uc002fwp.3,p.H778Y|ENST00000325418,p.H778Y	protein_coding	uc002fwp.3	nonsynonymous SNV	exon1	c.C2332T	p.H778Y	AMKQIKRKIQEFHRTMLNFSSATDL	AMKQIKRKIQEFYRTMLNFSSATDL	6.0	2.0	unscreened	-	3309_17:3629561-3629561 C>T_AMKQIKRKIQEFYRTMLNFSSATDL
22:19119463-19119463 C>T	0.0	3309	MELANOMA	-	-	-	-	TSSK2	uc002zow.2,p.P184L|NM_053006,p.P184L|ENST00000399635,p.P184L	protein_coding	uc002zow.2	nonsynonymous SNV	exon1	c.C551T	p.P184L	SKTFCGSAAYAAPEVLQSIPYQPKV	SKTFCGSAAYAALEVLQSIPYQPKV	4.0	4.0	unscreened	-	3309_22:19119463-19119463 C>T_SKTFCGSAAYAALEVLQSIPYQPKV
6:96651875-96651875 C>T	0.0	3309	MELANOMA	-	-	-	-	FUT9	ENST00000302103,p.P282S|NM_006581,p.P282S|uc021zcw.1,p.P282S|uc003pop.4,p.P282S	protein_coding, processed_transcript	uc021zcw.1	nonsynonymous SNV	exon1	c.C844T	p.P282S	LGPSRENYENYIPADSFIHVEDYNS	LGPSRENYENYISADSFIHVEDYNS	1.0	7.0	unscreened	-	3309_6:96651875-96651875 C>T_LGPSRENYENYISADSFIHVEDYNS
11:4928813-4928813 G>A	0.0	3309	MELANOMA	-	-	-	-	OR51A7	NM_001004749,p.G72S|ENST00000359350,p.G72S|uc010qyq.2,p.G72S	protein_coding	uc010qyq.2	nonsynonymous SNV	exon1	c.G214A	p.G72S	YYFLAMLAVSDMGLSLSSLPTMLRV	YYFLAMLAVSDMSLSLSSLPTMLRV	1.0	10.0	unscreened	-	3309_11:4928813-4928813 G>A_YYFLAMLAVSDMSLSLSSLPTMLRV
1:24661190-24661190 G>A	0.0	3309	MELANOMA	-	-	ID=COSM140916;OCCURENCE=1(upper_aerodigestive_tract)	-	GRHL3	ENST00000528064,p.E30K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000528064	nonsynonymous SNV	exon2	c.G88A	p.E30K	YCPPALGAGMTKERGTTMAWNMRRT	YCPPALGAGMTKKRGTTMAWNMRRT	1.0	5.0	unscreened	-	3309_1:24661190-24661190 G>A_YCPPALGAGMTKKRGTTMAWNMRRT
9:118949932-118949932 C>A	0.0	3309	MELANOMA	-	-	-	-	PAPPA	uc011lxp.1,p.S98R|NM_002581,p.S305R|uc004bjn.3,p.S305R|uc011lxq.2,p.S98R|ENST00000328252,p.S305R	protein_coding, processed_transcript	uc011lxq.2	nonsynonymous SNV	exon1	c.C294A	p.S98R	VKHAWSPMKDGSSPKVEFSNAHGFL	VKHAWSPMKDGSRPKVEFSNAHGFL	3.0	9.0	unscreened	-	3309_9:118949932-118949932 C>A_VKHAWSPMKDGSRPKVEFSNAHGFL
19:46832597-46832597 G>A	0.0	3309	MELANOMA	-	-	-	-	HIF3A	uc010xxy.2,p.R456Q|NM_022462,p.R456Q|ENST00000244303,p.R456Q|uc002peg.4,p.R525Q|uc002peh.3,p.R525Q|uc002pel.3,p.R523Q|NM_152795,p.R525Q|ENST00000600383,p.R456Q|ENST00000377670,p.R525Q|NM_152794,p.R523Q|ENST00000420102,p.R474Q|ENST00000300862,p.R523Q|ENST00000339613,p.R469Q|uc021uwf.1,p.R469Q|uc010xxz.2,p.R474Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021uwf.1	nonsynonymous SNV	exon12	c.G1406A	p.R469Q	HRPLGAVPRPRARSFHGLSPPALEP	HRPLGAVPRPRAQSFHGLSPPALEP	1.0	10.0	unscreened	-	3309_19:46832597-46832597 G>A_HRPLGAVPRPRAQSFHGLSPPALEP
7:100373377-100373377 C>A	0.0	3309	MELANOMA	-	-	-	-	ZAN	ENST00000546213,p.N548K|ENST00000546292,p.N2037K|uc011kke.2,p.N125K|ENST00000542585,p.N2037K|ENST00000538115,p.N2037K	protein_coding, polymorphic_pseudogene	uc011kke.2	nonsynonymous SNV	exon3	c.C375A	p.N125K	VSVKSSSIYSIVNIKIGVQVKFDGN	VSVKSSSIYSIVKIKIGVQVKFDGN	1.0	3.0	unscreened	-	3309_7:100373377-100373377 C>A_VSVKSSSIYSIVKIKIGVQVKFDGN
15:43814477-43814477 G>A	0.0	3309	MELANOMA	-	-	-	-	MAP1A	uc001zrt.3,p.G269E|ENST00000382031,p.G507E|ENST00000300231,p.G269E|NM_002373,p.G269E|ENST00000399453,p.G269E	protein_coding	uc001zrt.3	nonsynonymous SNV	exon4	c.G806A	p.G269E	NPTEKIVRVLFPGNAPQNKILEGLE	NPTEKIVRVLFPENAPQNKILEGLE	3.0	10.0	unscreened	-	3309_15:43814477-43814477 G>A_NPTEKIVRVLFPENAPQNKILEGLE
2:179471937-179471937 C>T	0.0	3309	MELANOMA	-	-	-	-	TTN	NM_133432,p.G8858S|NM_133378,p.G15230S|ENST00000342992,p.G15230S|uc021vsz.2,p.G8925S|NM_003319,p.G8733S|ENST00000591111,p.G16157S|NM_001267550,p.G17798S|uc021vsy.2,p.G15230S|NM_001256850,p.G16157S|uc021vta.2,p.G8858S|uc031rqd.1,p.G16157S|NM_133437,p.G8925S|ENST00000589042,p.G17798S|uc031rqc.1,p.G17798S|ENST00000359218,p.G8858S|ENST00000342175,p.G8925S|uc021vtb.2,p.G8733S|ENST00000460472,p.G8733S	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon228	c.G48469A	p.G16157S	SDPEDDGGSEITGFIIERKDAKMHT	SDPEDDGGSEITSFIIERKDAKMHT	2.0	7.0	unscreened	-	3309_2:179471937-179471937 C>T_SDPEDDGGSEITSFIIERKDAKMHT
X:12938862-12938862 T>C	0.0	3309	MELANOMA	-	-	-	-	TLR8	NM_138636,p.F568S|NM_016610,p.F586S|ENST00000311912,p.F586S|uc004cvd.3,p.F586S|uc004cve.3,p.F568S|ENST00000218032,p.F568S	protein_coding	uc004cve.3	nonsynonymous SNV	exon2	c.T1703C	p.F568S	LEVLDLSYNSHYFRIAGVTHHLEFI	LEVLDLSYNSHYSRIAGVTHHLEFI	1.0	10.0	unscreened	-	3309_X:12938862-12938862 T>C_LEVLDLSYNSHYSRIAGVTHHLEFI
X:153924281-153924281 A>C	0.0	3309	MELANOMA	-	-	-	-	GAB3	ENST00000369575,p.F480V|uc004fmk.1,p.F481V|uc004fmj.1,p.F480V|uc004fml.1,p.F100V|ENST00000369568,p.F481V|NM_080612,p.F480V|uc010nve.1,p.F481V|ENST00000424127,p.F481V|NM_001081573,p.F481V|NM_001282283,p.F481V	protein_coding, processed_transcript	uc010nve.1	nonsynonymous SNV	exon8	c.T1441G	p.F481V	TRTRTVPCSRTSFLSPERNGINSAR	TRTRTVPCSRTSVLSPERNGINSAR	1.0	9.0	unscreened	-	3309_X:153924281-153924281 A>C_TRTRTVPCSRTSVLSPERNGINSAR
11:116692056-116692056 C>T	0.0	3309	MELANOMA	-	-	-	-	APOA4	NM_000482,p.G240S|uc001pps.1,p.G240S|ENST00000357780,p.G240S	protein_coding	uc001pps.1	nonsynonymous SNV	exon3	c.G718A	p.G240S	QDTQEKLNHQLEGLTFQMKKNAEEL	QDTQEKLNHQLESLTFQMKKNAEEL	1.0	10.0	unscreened	-	3309_11:116692056-116692056 C>T_QDTQEKLNHQLESLTFQMKKNAEEL
15:75043540-75043540 G>A	0.0	3309	MELANOMA	-	-	-	-	CYP1A2	NM_000761,p.R281Q|ENST00000343932,p.R281Q|uc002ayr.1,p.R281Q	protein_coding	uc002ayr.1	nonsynonymous SNV	exon3	c.G842A	p.R281Q	QEHYQDFDKNSVRDITGALFKHSKK	QEHYQDFDKNSVQDITGALFKHSKK	1.0	4.0	unscreened	-	3309_15:75043540-75043540 G>A_QEHYQDFDKNSVQDITGALFKHSKK
12:21699311-21699311 G>A	0.0	3309	MELANOMA	-	-	-	-	GYS2	ENST00000261195,p.P506S|NM_021957,p.P506S|uc001rfb.3,p.P506S	protein_coding	uc001rfb.3	nonsynonymous SNV	exon12	c.C1516T	p.P506S	EEFVRGCHLGVFPSYYEPWGYTPAE	EEFVRGCHLGVFSSYYEPWGYTPAE	1.0	8.0	unscreened	-	3309_12:21699311-21699311 G>A_EEFVRGCHLGVFSSYYEPWGYTPAE
11:33881119-33881119 A>G	0.0	3309	MELANOMA	-	-	-	1	LMO2	NM_001142315,p.L87P|uc010rem.2,p.L156P|ENST00000395833,p.L87P|NM_001142316,p.L87P|uc001mvc.3,p.L80P|uc001mve.3,p.L87P|uc010rel.2,p.L87P|ENST00000257818,p.L156P|NM_005574,p.L156P|uc001mvd.3,p.L80P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rem.2	nonsynonymous SNV	exon6	c.T467C	p.L156P	LGRKLCRRDYLRLFGQDGLCASCDK	LGRKLCRRDYLRPFGQDGLCASCDK	1.0	6.0	unscreened	-	3309_11:33881119-33881119 A>G_LGRKLCRRDYLRPFGQDGLCASCDK
11:76637610-76637610 T>G	1.0	3309	MELANOMA	-	-	-	-	ACER3	NM_018367,p.V38G|ENST00000525861,p.V38G|ENST00000531461,p.V38G|uc009yum.1,p.V38G|ENST00000278544,p.V38G|ENST00000532485,p.V38G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009yum.1	nonsynonymous SNV	exon2	c.T113G	p.V38G	SVTWYIAEFWNTVSNLIMIIPPMFG	SVTWYIAEFWNTGSNLIMIIPPMFG	7.0	1.0	unscreened	-	3309_11:76637610-76637610 T>G_SVTWYIAEFWNTGSNLIMIIPPMFG
3:44943354-44943354 A>G	0.0	3309	MELANOMA	-	-	-	-	TGM4	NM_003241,p.N301S|uc003coc.4,p.N301S|ENST00000296125,p.N301S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003coc.4	nonsynonymous SNV	exon8	c.A902G	p.N301S	VTGFDSAHDTERNLTVDTYVNENGE	VTGFDSAHDTERSLTVDTYVNENGE	1.0	9.0	unscreened	-	3309_3:44943354-44943354 A>G_VTGFDSAHDTERSLTVDTYVNENGE
3:133494401-133494401 C>G	0.0	3309	MELANOMA	-	-	-	-	TF	NM_001063,p.H604Q|uc003epu.2,p.H604Q|ENST00000264998,p.H477Q|uc011blt.2,p.H477Q|ENST00000402696,p.H604Q|uc003epv.2,p.H604Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011blt.2	nonsynonymous SNV	exon14	c.C1431G	p.H477Q	EYANCHLARAPNHAVVTRKDKEACV	EYANCHLARAPNQAVVTRKDKEACV	3.0	4.0	unscreened	-	3309_3:133494401-133494401 C>G_EYANCHLARAPNQAVVTRKDKEACV
17:29653165-29653165 T>G	1.0	3309	MELANOMA	-	-	-	1	NF1	ENST00000456735,p.H1366Q|uc002hgg.3,p.H1721Q|NM_001042492,p.H1721Q|ENST00000356175,p.H1700Q|ENST00000358273,p.H1721Q|uc002hgi.1,p.H733Q|NM_000267,p.H1700Q|uc002hgh.3,p.H1700Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002hgi.1	nonsynonymous SNV	exon19	c.T2199G	p.H733Q	IDCPGKLAEHIEHEQQKLPAATLAL	IDCPGKLAEHIEQEQQKLPAATLAL	8.0	8.0	unscreened	-	3309_17:29653165-29653165 T>G_IDCPGKLAEHIEQEQQKLPAATLAL
5:140720811-140720811 C>T	0.0	3309	MELANOMA	-	-	-	-	PCDHGA2	NM_018915,p.S758F|uc003ljk.2,p.S758F|NM_032009,p.S758F|uc011dao.2,p.S758F|ENST00000394576,p.S758F	retained_intron, protein_coding	uc011dao.2	nonsynonymous SNV	exon1	c.C2273T	p.S758F	VRAFLQTYSHEVSLTADSRKSHLIF	VRAFLQTYSHEVFLTADSRKSHLIF	1.0	10.0	unscreened	-	3309_5:140720811-140720811 C>T_VRAFLQTYSHEVFLTADSRKSHLIF
4:123663129-123663129 A>T	0.0	3309	MELANOMA	-	-	-	-	BBS12	uc021xrn.1,p.T28S|ENST00000433287,p.T28S|uc003ieu.3,p.T28S|NM_001178007,p.T28S|ENST00000314218,p.T28S|NM_152618,p.T28S|ENST00000542236,p.T28S|uc021xrm.1,p.T28S	protein_coding	uc021xrn.1	nonsynonymous SNV	exon1	c.A82T	p.T28S	LQQLSSFAETGRTFLGPLKSSKFII	LQQLSSFAETGRSFLGPLKSSKFII	5.0	3.0	unscreened	-	3309_4:123663129-123663129 A>T_LQQLSSFAETGRSFLGPLKSSKFII
1:196716327-196716327 G>A	0.0	3309	MELANOMA	-	-	ID=COSM228825;OCCURENCE=1(skin)	-	CFH	ENST00000367429,p.G1194S|uc001gtj.4,p.G1194S|NM_000186,p.G1194S	retained_intron, protein_coding, ambiguous_orf	uc001gtj.4	nonsynonymous SNV	exon22	c.G3580A	p.G1194S	RWTAKQKLYSRTGESVEFVCKRGYR	RWTAKQKLYSRTSESVEFVCKRGYR	3.0	5.0	unscreened	-	3309_1:196716327-196716327 G>A_RWTAKQKLYSRTSESVEFVCKRGYR
11:130103256-130103256 G>A	0.0	3309	MELANOMA	-	-	-	-	ZBTB44	ENST00000530205,p.T458I|NM_001301099,p.T458I|uc001qfz.3,p.T458I	retained_intron, protein_coding, nonsense_mediated_decay	uc001qfz.3	nonsynonymous SNV	exon5	c.C1373T	p.T458I	RLKHEVPLQRQGTMIDNSQAVDEMT	RLKHEVPLQRQGIMIDNSQAVDEMT	6.0	2.0	unscreened	-	3309_11:130103256-130103256 G>A_RLKHEVPLQRQGIMIDNSQAVDEMT
19:9801446-9801446 C>T	0.0	3309	MELANOMA	-	-	-	-	ZNF812	NM_001199814,p.G245R|uc010xkx.2,p.G141R|uc021uop.1,p.G245R|ENST00000457674,p.G245R	protein_coding, processed_transcript	uc021uop.1	nonsynonymous SNV	exon6	c.G733A	p.G245R	FSQLSAHVKIHKGEKSFECKECGRS	FSQLSAHVKIHKREKSFECKECGRS	1.0	10.0	unscreened	-	3309_19:9801446-9801446 C>T_FSQLSAHVKIHKREKSFECKECGRS
19:31769903-31769903 C>T	1.0	3309	MELANOMA	-	-	-	-	TSHZ3	ENST00000240587,p.E266K|NM_020856,p.E266K|uc002nsy.4,p.E266K	protein_coding, processed_transcript	uc002nsy.4	nonsynonymous SNV	exon2	c.G796A	p.E266K	WSKPRKRSLLEMEGKEDAQKVLKCM	WSKPRKRSLLEMKGKEDAQKVLKCM	5.0	4.0	unscreened	-	3309_19:31769903-31769903 C>T_WSKPRKRSLLEMKGKEDAQKVLKCM
22:50926136-50926136 C>T	0.0	3309	MELANOMA	-	-	-	-	MIOX	ENST00000216075,p.H48Y|uc003blm.1,p.H48Y|uc003bln.1,p.H48Y|ENST00000395733,p.H48Y|ENST00000395732,p.H48Y|uc003bll.1,p.H48Y|NM_017584,p.H48Y|ENST00000451761,p.H43Y	protein_coding	uc003bln.1	nonsynonymous SNV	exon3	c.C142T	p.H48Y	LLDRVFTTYKLMHTHQTVDFVRSKH	LLDRVFTTYKLMYTHQTVDFVRSKH	1.0	1.0	unscreened	-	3309_22:50926136-50926136 C>T_LLDRVFTTYKLMYTHQTVDFVRSKH
1:160012252-160012252 C>T	0.0	3309	MELANOMA	-	-	-	-	KCNJ10	uc001fuw.2,p.G24E|NM_002241,p.G24E|ENST00000368089,p.G24E	protein_coding	uc001fuw.2	nonsynonymous SNV	exon2	c.G71A	p.G24E	TTQTESRPLMGPGIRRRRVLTKDGR	TTQTESRPLMGPEIRRRRVLTKDGR	2.0	2.0	unscreened	-	3309_1:160012252-160012252 C>T_TTQTESRPLMGPEIRRRRVLTKDGR
7:86394553-86394553 G>A	0.0	3309	MELANOMA	-	-	-	2	GRM3	ENST00000361669,p.R31K|uc010lef.3,p.R29K|NM_000840,p.R31K|ENST00000441140,p.R31K|ENST00000394720,p.R29K|uc003uid.3,p.R31K|ENST00000439827,p.R31K|ENST00000421579,p.R31K	protein_coding	uc010lef.3	nonsynonymous SNV	exon2	c.G86A	p.R29K	FLLSLGDHNFLRREIKIEGDLVLGG	FLLSLGDHNFLRKEIKIEGDLVLGG	1.0	3.0	unscreened	-	3309_7:86394553-86394553 G>A_FLLSLGDHNFLRKEIKIEGDLVLGG
2:31489554-31489554 G>A	1.0	3309	MELANOMA	-	-	-	-	EHD3	ENST00000322054,p.R531K|uc002rnu.3,p.R531K|NM_014600,p.R531K	protein_coding	uc002rnu.3	nonsynonymous SNV	exon6	c.G1592A	p.R531K	NELPAHLLPPSKRKVAE	NELPAHLLPPSKKKVAE	6.0	3.0	unscreened	-	3309_2:31489554-31489554 G>A_NELPAHLLPPSKKKVAE
17:39779278-39779278 T>G	0.0	3309	MELANOMA	-	-	-	-	KRT17	uc002hxh.2,p.T147P|ENST00000577817,p.T132P|uc010wft.2,p.T147P|ENST00000311208,p.T147P|NM_000422,p.T147P	retained_intron, protein_coding	uc010wft.2	nonsynonymous SNV	exon2	c.A439C	p.T147P	YRTIEELQNKILTATVDNANILLQI	YRTIEELQNKILPATVDNANILLQI	8.0	7.0	unscreened	-	3309_17:39779278-39779278 T>G_YRTIEELQNKILPATVDNANILLQI
8:140630676-140630676 G>A	0.0	3309	MELANOMA	-	-	-	-	KCNK9	ENST00000520439,p.S317F|NM_001282534,p.S317F|uc003yvg.1,p.S317F|ENST00000303015,p.S317F|ENST00000522317,p.S317F|uc003yvf.1,p.S317F	protein_coding, processed_transcript	uc003yvg.1	nonsynonymous SNV	exon2	c.C950T	p.S317F	QDYGGRSVAPQNSFSAKLAPHYFHS	QDYGGRSVAPQNFFSAKLAPHYFHS	1.0	3.0	unscreened	-	3309_8:140630676-140630676 G>A_QDYGGRSVAPQNFFSAKLAPHYFHS
17:39779278-39779278 T>G	0.0	3309	MELANOMA	-	-	-	-	KRT17	ENST00000540235,p.T306P	retained_intron, protein_coding	ENST00000540235	nonsynonymous SNV	exon5	c.A916C	p.T306P	LLAYGNQESKILTATVDNANILLQI	LLAYGNQESKILPATVDNANILLQI	8.0	7.0	unscreened	-	3309_17:39779278-39779278 T>G_LLAYGNQESKILPATVDNANILLQI
15:86809632-86809632 G>C	0.0	3309	MELANOMA	-	-	-	-	AGBL1	uc002bmb.1,p.R213S|ENST00000389298,p.R250S|uc002blz.1,p.R519S|uc002bma.1,p.R250S|NM_152336,p.R519S|ENST00000421325,p.R519S|ENST00000441037,p.R519S	retained_intron, protein_coding	uc002bmb.1	nonsynonymous SNV	exon3	c.G639C	p.R213S	GVQRIRIFEDIRRLIQPSDVINKVV	GVQRIRIFEDIRSLIQPSDVINKVV	1.0	9.0	unscreened	-	3309_15:86809632-86809632 G>C_GVQRIRIFEDIRSLIQPSDVINKVV
7:113518208-113518208 G>A	0.0	3309	MELANOMA	-	-	-	-	PPP1R3A	ENST00000284601,p.S980L|uc010ljy.1,p.S980L|NM_002711,p.S980L	protein_coding, nonsense_mediated_decay	uc010ljy.1	nonsynonymous SNV	exon4	c.C2939T	p.S980L	YPESKPEEVSRSSGIVTSGSRKERC	YPESKPEEVSRSLGIVTSGSRKERC	1.0	1.0	unscreened	-	3309_7:113518208-113518208 G>A_YPESKPEEVSRSLGIVTSGSRKERC
7:100647276-100647276 C>A	0.0	3309	MELANOMA	-	rs202226352	-	-	MUC12	uc003uxo.3,p.P4478T|ENST00000379442,p.P4621T|NM_001164462,p.P4478T|ENST00000536621,p.P4478T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.C13432A	p.P4478T	HSSPGSTATTHFPDSSTTSGRSEES	HSSPGSTATTHFTDSSTTSGRSEES	4.0	1.0	unscreened	-	3309_7:100647276-100647276 C>A_HSSPGSTATTHFTDSSTTSGRSEES
19:56283250-56283250 G>A	0.0	3309	MELANOMA	-	-	-	-	RFPL4AL1	uc031rnc.1,p.G27E|ENST00000341750,p.G27E|NM_001277397,p.G27E	protein_coding	uc031rnc.1	nonsynonymous SNV	exon1	c.G80A	p.G27E	LKDLEEAVQLKCGYACCLQCLNSLQ	LKDLEEAVQLKCEYACCLQCLNSLQ	1.0	10.0	unscreened	-	3309_19:56283250-56283250 G>A_LKDLEEAVQLKCEYACCLQCLNSLQ
2:175618443-175618443 T>C	0.0	3309	MELANOMA	-	-	-	-	CHRNA1	NM_001039523,p.N214S|ENST00000409219,p.N189S|ENST00000409323,p.N189S|uc002ujf.4,p.N189S|uc002ujd.2,p.N214S|NM_000079,p.N189S|uc002uje.2,p.N189S|ENST00000348749,p.N189S|ENST00000261007,p.N214S|ENST00000409542,p.N107S	protein_coding, nonsense_mediated_decay	uc002ujf.4	nonsynonymous SNV	exon6	c.A566G	p.N189S	AINPESDQPDLSNFMESGEWVIKES	AINPESDQPDLSSFMESGEWVIKES	1.0	9.0	unscreened	-	3309_2:175618443-175618443 T>C_AINPESDQPDLSSFMESGEWVIKES
7:34101623-34101623 C>T	0.0	3309	MELANOMA	-	-	-	-	BMPER	ENST00000297161,p.L348F|uc011kap.2,p.L348F|NM_133468,p.L348F|ENST00000426693,p.L348F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kap.2	nonsynonymous SNV	exon12	c.C1042T	p.L348F	CIPISSCPQGKILNRKGCCPICTEK	CIPISSCPQGKIFNRKGCCPICTEK	1.0	1.0	unscreened	-	3309_7:34101623-34101623 C>T_CIPISSCPQGKIFNRKGCCPICTEK
22:21742741-21742741 C>T	0.0	3309	MELANOMA	-	-	-	-	RIMBP3B,RIMBP3C	ENST00000434111,p.P1532S|NM_001128633,p.P1532S|NM_001128635,p.P1532S|uc002zuq.4,p.P1532S	protein_coding	uc002zuq.4	nonsynonymous SNV	exon1	c.C4594T	p.P1532S	VGTEQTDRRWRSPAQGHLPSVAHLE	VGTEQTDRRWRSSAQGHLPSVAHLE	1.0	2.0	unscreened	-	3309_22:21742741-21742741 C>T_VGTEQTDRRWRSSAQGHLPSVAHLE
3:194118408-194118408 G>A	0.0	3309	MELANOMA	-	-	-	-	GP5	ENST00000323007,p.H202Y|NM_004488,p.H202Y|uc003ftv.1,p.H202Y|uc021xiz.1,p.H202Y|ENST00000401815,p.H202Y	protein_coding	uc021xiz.1	nonsynonymous SNV	exon1	c.C604T	p.H202Y	LGAQAKLERLLLHSNRLVSLDSGLL	LGAQAKLERLLLYSNRLVSLDSGLL	1.0	4.0	unscreened	-	3309_3:194118408-194118408 G>A_LGAQAKLERLLLYSNRLVSLDSGLL
7:4917389-4917389 C>T	0.0	3309	MELANOMA	-	-	-	-	RADIL	ENST00000445392,p.A128T|uc003snj.1,p.A128T|NM_018059,p.A128T|ENST00000399583,p.A128T|ENST00000536091,p.A128T	retained_intron, protein_coding, nonsense_mediated_decay	uc003snj.1	nonsynonymous SNV	exon2	c.G382A	p.A128T	VGQAGDAGQRWQARCFRVFGDSEKP	VGQAGDAGQRWQTRCFRVFGDSEKP	5.0	10.0	unscreened	-	3309_7:4917389-4917389 C>T_VGQAGDAGQRWQTRCFRVFGDSEKP
9:119625870-119625870 C>T	0.0	3309	MELANOMA	-	-	-	-	ASTN2	ENST00000361209,p.G627R|NM_014010,p.G627R|ENST00000373986,p.G401R|uc004bjt.2,p.G627R|ENST00000313400,p.G678R|ENST00000373996,p.G674R|uc022bml.1,p.G323R|uc022bmm.1,p.G327R	protein_coding	uc022bmm.1	nonsynonymous SNV	exon9	c.G979A	p.G327R	FKCVSDRQVDSSGCVCPEELKPMKD	FKCVSDRQVDSSRCVCPEELKPMKD	6.0	2.0	unscreened	-	3309_9:119625870-119625870 C>T_FKCVSDRQVDSSRCVCPEELKPMKD
16:19451527-19451527 C>T	0.0	3309	MELANOMA	-	-	-	-	TMC5	ENST00000381414,p.S56F|NM_001105248,p.S56F|uc010var.2,p.S56F|NM_001105249,p.S56F|ENST00000542583,p.S56F|uc002dgb.4,p.S56F|ENST00000396229,p.S56F|NM_001261841,p.S56F|ENST00000541464,p.S56F|uc002dgc.4,p.S56F|uc010vaq.2,p.S56F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010var.2	nonsynonymous SNV	exon3	c.C167T	p.S56F	NPDYPGTRSNPYSVASRTRPDYPGS	NPDYPGTRSNPYFVASRTRPDYPGS	1.0	6.0	unscreened	-	3309_16:19451527-19451527 C>T_NPDYPGTRSNPYFVASRTRPDYPGS
7:99314851-99314851 A>C	0.0	3309	MELANOMA	-	-	-	-	CYP3A7,CYP3A7-CYP3AP1	NM_001256497,p.V157G|NM_000765,p.V157G|uc003uru.3,p.V157G|uc031syj.1,p.V157G|ENST00000336374,p.V157G	retained_intron, protein_coding	uc031syj.1	nonsynonymous SNV	exon6	c.T470G	p.V157G	MVPIIAQYGDVLVRNLRREAETGKP	MVPIIAQYGDVLGRNLRREAETGKP	2.0	1.0	unscreened	-	3309_7:99314851-99314851 A>C_MVPIIAQYGDVLGRNLRREAETGKP
1:159907628-159907628 C>T	0.0	3309	MELANOMA	-	-	-	-	IGSF9	NM_020789,p.G83E|ENST00000368094,p.G83E|NM_001135050,p.G83E|uc001fur.2,p.G83E|ENST00000361509,p.G83E|uc001fuq.2,p.G83E	protein_coding, processed_transcript	uc001fur.2	nonsynonymous SNV	exon4	c.G248A	p.G83E	GLYSPRIDPDYVGRVRLQKGASLQI	GLYSPRIDPDYVERVRLQKGASLQI	1.0	9.0	unscreened	-	3309_1:159907628-159907628 C>T_GLYSPRIDPDYVERVRLQKGASLQI
7:120385981-120385981 C>T	0.0	3309	MELANOMA	-	-	ID=COSM1211450;OCCURENCE=1(large_intestine)	-	KCND2	NM_012281,p.R539C|ENST00000331113,p.R539C|uc003vjj.1,p.R539C	retained_intron, protein_coding	uc003vjj.1	nonsynonymous SNV	exon5	c.C1615T	p.R539C	STCCSRRHKKTFRIPNANVSGSHQG	STCCSRRHKKTFCIPNANVSGSHQG	1.0	2.0	unscreened	-	3309_7:120385981-120385981 C>T_STCCSRRHKKTFCIPNANVSGSHQG
19:38378718-38378718 G>A	0.0	3309	MELANOMA	-	-	-	-	WDR87	uc002ohj.2,p.L1865F|NM_031951,p.L1826F|ENST00000303868,p.L1826F|NM_001291088,p.L1865F|ENST00000447313,p.L1865F|uc010efu.2,p.L1826F	retained_intron, protein_coding	uc010efu.2	nonsynonymous SNV	exon6	c.C5476T	p.L1826F	QKRERWINSMEELTKNKMILYQKKN	QKRERWINSMEEFTKNKMILYQKKN	1.0	2.0	unscreened	-	3309_19:38378718-38378718 G>A_QKRERWINSMEEFTKNKMILYQKKN
11:119044712-119044712 C>T	1.0	3309	MELANOMA	0.0018	-	-	-	NLRX1	NM_024618,p.R252W|uc001pvw.3,p.R252W|ENST00000292199,p.R252W|uc001pvx.3,p.R252W|NM_001282144,p.R252W|ENST00000409991,p.R252W|ENST00000409265,p.R252W|ENST00000409109,p.R252W|uc001pvu.3,p.R252W|uc010rzc.1,p.R74W|ENST00000525863,p.R252W|uc001pvv.3,p.R252W|NM_001282143,p.R252W|NM_001282358,p.R252W	retained_intron, protein_coding, processed_transcript	uc010rzc.1	nonsynonymous SNV	exon4	c.C220T	p.R74W	VLHGLEHLNLDFRLAGTGLCSDPEE	VLHGLEHLNLDFWLAGTGLCSDPEE	6.0	10.0	unscreened	-	3309_11:119044712-119044712 C>T_VLHGLEHLNLDFWLAGTGLCSDPEE
19:56953300-56953300 T>G	0.0	3309	MELANOMA	-	-	-	-	ZNF667	NM_022103,p.E355A|uc010etm.3,p.E298A|ENST00000342634,p.E483A|ENST00000504904,p.E355A|uc002qne.3,p.E355A|uc002qnd.3,p.E355A|ENST00000292069,p.E355A|uc010etl.3,p.E137A	protein_coding, processed_transcript, nonsense_mediated_decay	uc010etm.3	nonsynonymous SNV	exon6	c.A893C	p.E298A	SPLMLHQRIHTSEKPYKCDKCDKFF	SPLMLHQRIHTSAKPYKCDKCDKFF	3.0	3.0	unscreened	-	3309_19:56953300-56953300 T>G_SPLMLHQRIHTSAKPYKCDKCDKFF
5:128958018-128958018 G>A	0.0	3309	MELANOMA	-	-	ID=COSM203684;OCCURENCE=1(large_intestine)	-	ADAMTS19	NM_133638,p.A577T|ENST00000274487,p.A577T|uc003kvb.1,p.A577T	protein_coding, processed_transcript, nonsense_mediated_decay	uc003kvb.1	nonsynonymous SNV	exon10	c.G1729A	p.A577T	ADEQCQILFGPLASFCQEMQHVICT	ADEQCQILFGPLTSFCQEMQHVICT	1.0	10.0	unscreened	-	3309_5:128958018-128958018 G>A_ADEQCQILFGPLTSFCQEMQHVICT
12:40696611-40696611 C>T	0.0	3309	MELANOMA	-	-	-	-	LRRK2	uc009zjw.3,p.P11S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zjw.3	nonsynonymous SNV	exon5	c.C31T	p.P11S	MLTAAMPFLPPSMTILKLSQNKF	MLTAAMPFLPSSMTILKLSQNKF	4.0	6.0	unscreened	-	3309_12:40696611-40696611 C>T_MLTAAMPFLPSSMTILKLSQNKF
1:50659473-50659473 G>A	0.0	3309	MELANOMA	-	-	-	-	ELAVL4	uc001crz.3,p.D131N|ENST00000371824,p.D131N|NM_001144775,p.D167N|uc010omz.2,p.D136N|uc009vyu.3,p.D136N|uc001csb.2,p.D131N|NM_001144777,p.D134N|NM_001294348,p.D136N|uc001csa.3,p.D148N|NM_001144776,p.D131N|ENST00000448907,p.D134N|ENST00000371827,p.D131N|ENST00000371823,p.D131N|ENST00000371821,p.D136N|ENST00000371819,p.D136N|ENST00000357083,p.D148N|NM_001144774,p.D131N|uc001cry.3,p.D134N|uc001csc.3,p.D131N|NM_021952,p.D131N	protein_coding, processed_transcript	uc010omz.2	nonsynonymous SNV	exon4	c.G406A	p.D136N	VSYARPSSASIRDANLYVSGLPKTM	VSYARPSSASIRNANLYVSGLPKTM	1.0	6.0	unscreened	-	3309_1:50659473-50659473 G>A_VSYARPSSASIRNANLYVSGLPKTM
6:143086064-143086064 C>T	1.0	3309	MELANOMA	-	-	-	-	HIVEP2	ENST00000012134,p.G1797E|uc003qjd.3,p.G1797E|ENST00000367603,p.G1797E|ENST00000367604,p.G1797E|NM_006734,p.G1797E	protein_coding, processed_transcript	uc003qjd.3	nonsynonymous SNV	exon7	c.G5390A	p.G1797E	NEDYVYVRGRGRGKYICEECGIRCK	NEDYVYVRGRGREKYICEECGIRCK	7.0	9.0	unscreened	-	3309_6:143086064-143086064 C>T_NEDYVYVRGRGREKYICEECGIRCK
1:86952380-86952380 C>T	0.0	3309	MELANOMA	-	-	-	-	CLCA1	NM_001285,p.P376S|uc001dls.1,p.P315S|ENST00000234701,p.P376S|uc001dlt.3,p.P376S|ENST00000394711,p.P376S	protein_coding, processed_transcript	uc001dlt.3	nonsynonymous SNV	exon7	c.C1126T	p.P376S	SGSDRDTLAKRLPAAASGGTSICSG	SGSDRDTLAKRLSAAASGGTSICSG	1.0	3.0	unscreened	-	3309_1:86952380-86952380 C>T_SGSDRDTLAKRLSAAASGGTSICSG
12:57864243-57864243 G>A	0.0	3309	MELANOMA	-	-	ID=COSM549256;OCCURENCE=1(lung)	2	GLI1	ENST00000543426,p.G446R|uc001snx.3,p.G574R|uc009zpq.3,p.G446R|NM_001160045,p.G446R|ENST00000528467,p.G533R|NM_005269,p.G574R|uc021qzi.1,p.G533R|ENST00000546141,p.G533R|ENST00000228682,p.G574R|NM_001167609,p.G533R	retained_intron, protein_coding	uc021qzi.1	nonsynonymous SNV	exon11	c.G1597A	p.G533R	ASPFPPGSPPENGASSLPGLMPAQH	ASPFPPGSPPENRASSLPGLMPAQH	3.0	6.0	unscreened	-	3309_12:57864243-57864243 G>A_ASPFPPGSPPENRASSLPGLMPAQH
7:100634290-100634290 G>A	0.0	3309	MELANOMA	-	-	-	-	MUC12	NM_001164462,p.R149K|ENST00000536621,p.R149K|uc003uxo.3,p.R149K|ENST00000379442,p.R292K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.G446A	p.R149K	STTFYSSPRSPDRTLSPARTTSSGV	STTFYSSPRSPDKTLSPARTTSSGV	4.0	2.0	unscreened	-	3309_7:100634290-100634290 G>A_STTFYSSPRSPDKTLSPARTTSSGV
13:38158193-38158193 C>T	0.0	3309	MELANOMA	-	-	-	-	POSTN	NM_001286667,p.D386N|uc010tex.1,p.D301N|NM_001135934,p.D386N|ENST00000541481,p.D386N|ENST00000379742,p.D386N|ENST00000541179,p.D386N|ENST00000379749,p.D386N|NM_006475,p.D386N|NM_001135936,p.D386N|uc010tew.1,p.D386N|uc001uwr.3,p.D386N|NM_001286665,p.D386N|ENST00000379747,p.D386N|uc010tev.1,p.D386N|uc001uwp.4,p.D386N|ENST00000379743,p.D386N|uc001uwq.3,p.D386N|uc001uwo.4,p.D386N|NM_001135935,p.D386N|uc010teu.1,p.D386N|NM_001286666,p.D386N	protein_coding, processed_transcript	uc010tex.1	nonsynonymous SNV	exon9	c.G901A	p.D301N	IELAGKQQTTFTDLVAQLGLASALR	IELAGKQQTTFTNLVAQLGLASALR	1.0	10.0	unscreened	-	3309_13:38158193-38158193 C>T_IELAGKQQTTFTNLVAQLGLASALR
7:141794601-141794601 C>T	0.0	3309	MELANOMA	-	-	-	-	MGAM	ENST00000549489,p.R1570C|NM_004668,p.R1570C|ENST00000475668,p.R2466C|uc003vwy.3,p.R1570C	retained_intron, protein_coding, processed_transcript	uc003vwy.3	nonsynonymous SNV	exon40	c.C4708T	p.R1570C	GFFQDAEYEMCVRWMQLGAFYPFSR	GFFQDAEYEMCVCWMQLGAFYPFSR	4.0	2.0	unscreened	-	3309_7:141794601-141794601 C>T_GFFQDAEYEMCVCWMQLGAFYPFSR
X:130411008-130411008 G>A	0.0	3309	MELANOMA	-	-	ID=COSM1115228;OCCURENCE=1(endometrium)	-	IGSF1	NM_001555,p.S838L|uc022cdv.1,p.S829L|ENST00000370904,p.S829L|uc004ewd.3,p.S838L|NM_001170962,p.S829L|uc004ewe.4,p.S843L|NM_001170961,p.S843L|ENST00000370903,p.S843L|ENST00000370910,p.S829L|ENST00000361420,p.S838L|uc004ewf.2,p.S818L	protein_coding, processed_transcript	uc022cdv.1	nonsynonymous SNV	exon13	c.C2486T	p.S829L	SPGASAAHFLIISVGIGDGGNYSCR	SPGASAAHFLIILVGIGDGGNYSCR	1.0	10.0	unscreened	-	3309_X:130411008-130411008 G>A_SPGASAAHFLIILVGIGDGGNYSCR
19:47124793-47124793 C>T	0.0	3309	MELANOMA	-	-	-	-	PTGIR	ENST00000594275,p.R59Q|NM_000960,p.R302Q|ENST00000291294,p.R302Q|ENST00000597185,p.R31Q|ENST00000598865,p.R90Q|uc002pex.3,p.R302Q	retained_intron, protein_coding	uc002pex.3	nonsynonymous SNV	exon3	c.G905A	p.R302Q	WVFILFRKAVFQRLKLWVCCLCLGP	WVFILFRKAVFQQLKLWVCCLCLGP	1.0	5.0	unscreened	-	3309_19:47124793-47124793 C>T_WVFILFRKAVFQQLKLWVCCLCLGP
21:39671203-39671203 G>A	0.0	3309	MELANOMA	-	-	-	-	KCNJ15	ENST00000417042,p.G7D|ENST00000549805,p.G7D|ENST00000549158,p.G7D|ENST00000398938,p.G7D|NM_001276435,p.G7D|uc031rvn.1,p.G7D|uc021wjc.1,p.G7D|uc002yww.4,p.G7D|uc031rvj.1,p.G7D|ENST00000328656,p.G7D|NM_001276438,p.G7D|ENST00000398925,p.G7D|NM_170737,p.G7D|NM_002243,p.G7D|ENST00000547595,p.G7D|NM_170736,p.G7D|ENST00000398932,p.G7D|ENST00000549932,p.G7D|ENST00000398934,p.G7D|uc002ywx.4,p.G7D|uc031rvl.1,p.G7D|NM_001276437,p.G7D|ENST00000443341,p.G7D|uc002ywv.4,p.G7D|ENST00000398927,p.G7D|uc031rvk.1,p.G7D|ENST00000398928,p.G7D|uc031rvm.1,p.G7D|NM_001276439,p.G7D|ENST00000398930,p.G7D|NM_001276436,p.G7D|ENST00000548700,p.G7D|ENST00000438657,p.G7D|ENST00000419868,p.G7D|ENST00000547341,p.G7D|ENST00000551422,p.G7D	protein_coding	uc031rvn.1	nonsynonymous SNV	exon5	c.G20A	p.G7D	MDAIHIGMSSTPLVKHTAG	MDAIHIDMSSTPLVKHTAG	1.0	10.0	unscreened	-	3309_21:39671203-39671203 G>A_MDAIHIDMSSTPLVKHTAG
18:44555007-44555007 C>T	0.0	3309	MELANOMA	-	-	-	-	TCEB3C,TCEB3CL	NM_001100817,p.E403K|uc010xdb.2,p.E403K|NM_145653,p.E403K|ENST00000330682,p.E403K	protein_coding	uc010xdb.2	nonsynonymous SNV	exon1	c.G1207A	p.E403K	ELWRIHCLQDFKEEKPQEHESWREL	ELWRIHCLQDFKKEKPQEHESWREL	1.0	1.0	unscreened	-	3309_18:44555007-44555007 C>T_ELWRIHCLQDFKKEKPQEHESWREL
1:207106416-207106416 C>T	0.0	3309	MELANOMA	-	-	-	-	PIGR	ENST00000356495,p.D601N|NM_002644,p.D601N|uc009xbz.3,p.D601N|uc001hez.3,p.D601N	protein_coding, processed_transcript	uc009xbz.3	nonsynonymous SNV	exon8	c.G1801A	p.D601N	SGFREIENKAIQDPRLFAEEKAVAD	SGFREIENKAIQNPRLFAEEKAVAD	1.0	4.0	unscreened	-	3309_1:207106416-207106416 C>T_SGFREIENKAIQNPRLFAEEKAVAD
3:196094938-196094938 A>C	1.0	3309	MELANOMA	-	-	-	-	UBXN7	NM_015562,p.D265E|ENST00000535858,p.D117E|uc010iae.3,p.D103E|ENST00000428095,p.D103E|uc003fwn.4,p.D117E|ENST00000296328,p.D265E|uc003fwm.4,p.D265E	retained_intron, protein_coding, nonsense_mediated_decay	uc010iae.3	nonsynonymous SNV	exon4	c.T309G	p.D103E	QVTGFLGEHGQLDGLSSSPPKKCAR	QVTGFLGEHGQLEGLSSSPPKKCAR	7.0	4.0	unscreened	-	3309_3:196094938-196094938 A>C_QVTGFLGEHGQLEGLSSSPPKKCAR
19:23170141-23170141 C>T	0.0	3309	MELANOMA	-	-	-	-	ZNF728	NM_001267716,p.M65I|uc002nqz.2,p.M65I|ENST00000594710,p.M65I	protein_coding	uc002nqz.2	nonsynonymous SNV	exon3	c.G195A	p.M65I	IIFLEQGKEPWNMKRHELVKEPPVI	IIFLEQGKEPWNIKRHELVKEPPVI	3.0	9.0	unscreened	-	3309_19:23170141-23170141 C>T_IIFLEQGKEPWNIKRHELVKEPPVI
12:40696611-40696611 C>T	0.0	3309	MELANOMA	-	-	-	-	LRRK2	NM_198578,p.P1173S|ENST00000343742,p.P1173S|ENST00000298910,p.P1173S|uc001rmh.1,p.P795S|uc001rmg.4,p.P1173S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rmh.1	nonsynonymous SNV	exon17	c.C2383T	p.P795S	RMNFLAAMPFLPPSMTILKLSQNKF	RMNFLAAMPFLPSSMTILKLSQNKF	4.0	6.0	unscreened	-	3309_12:40696611-40696611 C>T_RMNFLAAMPFLPSSMTILKLSQNKF
2:196738391-196738391 C>T	0.0	3309	MELANOMA	-	-	-	-	DNAH7	uc002utj.4,p.R2105Q|NM_018897,p.R2105Q|ENST00000312428,p.R2105Q	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon39	c.G6314A	p.R2105Q	GPPGGGRNPVTPRYMRHFNIITINE	GPPGGGRNPVTPQYMRHFNIITINE	1.0	8.0	unscreened	-	3309_2:196738391-196738391 C>T_GPPGGGRNPVTPQYMRHFNIITINE
4:46067533-46067533 C>T	0.0	3309	MELANOMA	-	-	-	-	GABRG1	NM_173536,p.M130I|uc003gxb.3,p.M130I|ENST00000295452,p.M130I	protein_coding	uc003gxb.3	nonsynonymous SNV	exon4	c.G390A	p.M130I	TWFDSRLKFNSTMKVLMLNSNMVGK	TWFDSRLKFNSTIKVLMLNSNMVGK	1.0	9.0	unscreened	-	3309_4:46067533-46067533 C>T_TWFDSRLKFNSTIKVLMLNSNMVGK
19:56273246-56273246 G>A	0.0	3309	MELANOMA	-	-	-	-	RFPL4A	uc010yge.2,p.G27E|NM_001145014,p.G27E|ENST00000434937,p.G27E	protein_coding	uc010yge.2	nonsynonymous SNV	exon2	c.G80A	p.G27E	LKDLEEAVQLKCGYACCLQCLNSLQ	LKDLEEAVQLKCEYACCLQCLNSLQ	1.0	1.0	unscreened	-	3309_19:56273246-56273246 G>A_LKDLEEAVQLKCEYACCLQCLNSLQ
6:30951752-30951752 G>A	0.0	3309	MELANOMA	-	-	-	-	MUC21	ENST00000376296,p.G6E|NM_001010909,p.G6E|uc003nsh.2,p.G6E	protein_coding	uc003nsh.2	nonsynonymous SNV	exon1	c.G17A	p.G6E	MKMQKGNVLLMFGLLLHL	MKMQKENVLLMFGLLLHL	1.0	8.0	unscreened	-	3309_6:30951752-30951752 G>A_MKMQKENVLLMFGLLLHL
12:123187160-123187160 G>A	0.0	3309	MELANOMA	-	-	-	-	HCAR2	NM_177551,p.A224V|uc001ucx.1,p.A224V|ENST00000328880,p.A224V	protein_coding	uc001ucx.1	nonsynonymous SNV	exon1	c.C671T	p.A224V	IWSLRQRQMDRHAKIKRAITFIMVV	IWSLRQRQMDRHVKIKRAITFIMVV	1.0	2.0	unscreened	-	3309_12:123187160-123187160 G>A_IWSLRQRQMDRHVKIKRAITFIMVV
X:107858212-107858212 C>T	0.0	3309	MELANOMA	-	-	-	-	COL4A5	NM_000495,p.P823S|ENST00000328300,p.P823S|ENST00000361603,p.P823S|uc022ccg.2,p.P823S|uc004enz.2,p.P823S|uc004eob.1,p.P431S	retained_intron, protein_coding, processed_transcript	uc022ccg.2	nonsynonymous SNV	exon30	c.C2467T	p.P823S	GPPGLPGIGVQGPPGPPGIPGPIGQ	GPPGLPGIGVQGSPGPPGIPGPIGQ	1.0	10.0	unscreened	-	3309_X:107858212-107858212 C>T_GPPGLPGIGVQGSPGPPGIPGPIGQ
11:114393741-114393741 C>T	0.0	3309	MELANOMA	-	-	-	-	NXPE1	ENST00000536271,p.G39E|ENST00000251921,p.G181E|ENST00000424269,p.G323E|uc010rxd.2,p.G30E|uc001ppa.3,p.G181E|NM_152315,p.G181E	protein_coding	uc010rxd.2	nonsynonymous SNV	exon3	c.G89A	p.G30E	MKPPVPGGYTLQGKWITTFCNQVQL	MKPPVPGGYTLQEKWITTFCNQVQL	1.0	10.0	unscreened	-	3309_11:114393741-114393741 C>T_MKPPVPGGYTLQEKWITTFCNQVQL
20:31673890-31673890 G>A	0.0	3309	MELANOMA	-	-	-	-	BPIFB4	NM_182519,p.M282I|ENST00000375483,p.M282I|uc010zue.2,p.M282I	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zue.2	nonsynonymous SNV	exon5	c.G846A	p.M282I	VEVNITAKVRLTMDRTGYPRLVIER	VEVNITAKVRLTIDRTGYPRLVIER	1.0	3.0	unscreened	-	3309_20:31673890-31673890 G>A_VEVNITAKVRLTIDRTGYPRLVIER
3:133494401-133494401 C>G	0.0	3309	MELANOMA	-	-	-	-	TF	uc003epw.2,p.H43Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003epw.2	nonsynonymous SNV	exon3	c.C129G	p.H43Q	SEHEATKCQTPNHAVVTRKDKEACV	SEHEATKCQTPNQAVVTRKDKEACV	3.0	4.0	unscreened	-	3309_3:133494401-133494401 C>G_SEHEATKCQTPNQAVVTRKDKEACV
6:125583982-125583982 G>A	1.0	3309	MELANOMA	-	-	-	-	TPD52L1	ENST00000368388,p.R130Q|NM_001003397,p.R130Q|NM_001292026,p.R101Q|uc003pzw.1,p.R130Q|ENST00000534199,p.R101Q|ENST00000524679,p.R101Q|ENST00000392482,p.R101Q|uc003pzz.1,p.R101Q	retained_intron, protein_coding, processed_transcript	uc003pzz.1	nonsynonymous SNV	exon5	c.G302A	p.R101Q	GTAISKKFGDMRRK	GTAISKKFGDMRQK	6.0	6.0	unscreened	-	3309_6:125583982-125583982 G>A_GTAISKKFGDMRQK
10:124598719-124598719 C>T	0.0	3309	MELANOMA	-	-	-	-	CUZD1	uc010qtz.2,p.E88K|uc001lgs.3,p.E88K|ENST00000545804,p.E88K|ENST00000368904,p.E88K|NM_022034,p.E88K|ENST00000392790,p.E88K	protein_coding	uc010qtz.2	nonsynonymous SNV	exon5	c.G262A	p.E88K	YVQLDPDGSCESENIKVFDGTSSNG	YVQLDPDGSCESKNIKVFDGTSSNG	1.0	10.0	unscreened	-	3309_10:124598719-124598719 C>T_YVQLDPDGSCESKNIKVFDGTSSNG
7:136700414-136700414 G>A	0.0	3309	MELANOMA	-	-	-	-	CHRM2	ENST00000320658,p.D268N|uc003vti.1,p.D268N|uc003vtg.1,p.D268N|ENST00000453373,p.D268N|uc003vtm.1,p.D268N|NM_001006628,p.D268N|NM_001006630,p.D268N|NM_001006632,p.D268N|NM_001006627,p.D268N|ENST00000402486,p.D268N|uc003vtn.1,p.D268N|uc003vto.1,p.D268N|uc022ame.1,p.D268N|uc003vtf.1,p.D268N|NM_001006626,p.D268N|uc003vtl.1,p.D268N|ENST00000401861,p.D268N|NM_000739,p.D268N|ENST00000397608,p.D268N|uc003vtk.1,p.D268N|NM_001006631,p.D268N|ENST00000445907,p.D268N|uc003vtj.1,p.D268N|NM_001006629,p.D268N	protein_coding, processed_transcript	uc022ame.1	nonsynonymous SNV	exon1	c.G802A	p.D268N	EHNKIQNGKAPRDPVTENCVQGEEK	EHNKIQNGKAPRNPVTENCVQGEEK	1.0	3.0	unscreened	-	3309_7:136700414-136700414 G>A_EHNKIQNGKAPRNPVTENCVQGEEK
19:16040329-16040329 G>A	0.0	3309	MELANOMA	-	-	-	-	CYP4F11	ENST00000248041,p.P94L|uc010eab.1,p.P94L|uc002nbu.2,p.P94L|ENST00000402119,p.P94L|uc002nbt.2,p.P94L|NM_021187,p.P94L|NM_001128932,p.P94L|ENST00000326742,p.P94L	retained_intron, protein_coding	uc010eab.1	nonsynonymous SNV	exon2	c.C281T	p.P94L	TTYPQGFKLWLGPTFPLLILCHPDI	TTYPQGFKLWLGLTFPLLILCHPDI	1.0	1.0	unscreened	-	3309_19:16040329-16040329 G>A_TTYPQGFKLWLGLTFPLLILCHPDI
3:78701076-78701076 G>A	1.0	3309	MELANOMA	-	-	-	-	ROBO1	ENST00000495273,p.A837V|ENST00000436010,p.A834V|ENST00000464233,p.A873V|uc011bgl.1,p.A445V|uc003dqc.2,p.A837V|ENST00000467549,p.A837V|NM_133631,p.A837V|NM_002941,p.A873V|uc003dqe.2,p.A873V|uc003dqd.2,p.A837V|uc003dqb.2,p.A834V|uc010hoh.2,p.A65V|NM_001145845,p.A837V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bgl.1	nonsynonymous SNV	exon9	c.C1334T	p.A445V	GVKSEPQFIQLDAHGNPVSPEDQVS	GVKSEPQFIQLDVHGNPVSPEDQVS	8.0	6.0	unscreened	-	3309_3:78701076-78701076 G>A_GVKSEPQFIQLDVHGNPVSPEDQVS
2:168104708-168104708 G>A	0.0	3309	MELANOMA	-	-	-	-	XIRP2	ENST00000409273,p.R2047K|NM_152381,p.R2269K|ENST00000295237,p.R2269K|ENST00000409195,p.R2269K|NM_001199144,p.R2047K|uc002udy.3,p.R2094K|uc010fpq.3,p.R2047K|uc002udx.3,p.R2269K	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.G6140A	p.R2047K	TNTSTGLKMAMERSLNPINFNPENN	TNTSTGLKMAMEKSLNPINFNPENN	1.0	5.0	unscreened	-	3309_2:168104708-168104708 G>A_TNTSTGLKMAMEKSLNPINFNPENN
2:234526718-234526718 C>T	0.0	3309	MELANOMA	-	-	ID=COSM233708;OCCURENCE=1(skin)	-	UGT1A8	uc002vup.3,p.S122L|uc010zmv.1,p.S122L|ENST00000373450,p.S122L|NM_019076,p.S122L	protein_coding	uc010zmv.1	nonsynonymous SNV	exon1	c.C365T	p.S122L	LSSSNGFFNLFFSHCRSLFNDRKLV	LSSSNGFFNLFFLHCRSLFNDRKLV	1.0	5.0	unscreened	-	3309_2:234526718-234526718 C>T_LSSSNGFFNLFFLHCRSLFNDRKLV
18:65180243-65180243 C>T	0.0	3309	MELANOMA	-	-	-	-	DSEL	ENST00000310045,p.D545N|uc002lke.1,p.D545N|uc021ulg.1,p.D545N|NM_032160,p.D545N	protein_coding	uc021ulg.1	nonsynonymous SNV	exon1	c.G1633A	p.D545N	AQWLKWTGEEVGDAAGEIITASQHG	AQWLKWTGEEVGNAAGEIITASQHG	5.0	1.0	unscreened	-	3309_18:65180243-65180243 C>T_AQWLKWTGEEVGNAAGEIITASQHG
7:143807301-143807301 C>T	0.0	3309	MELANOMA	-	-	ID=COSM3950123;OCCURENCE=1(lung)	-	OR2A2	NM_001005480,p.P209L|ENST00000408979,p.P209L|uc011ktz.2,p.P209L	protein_coding	uc011ktz.2	nonsynonymous SNV	exon1	c.C626T	p.P209L	VIFATCVFVLVGPLSLILVSYMHIL	VIFATCVFVLVGLLSLILVSYMHIL	1.0	2.0	unscreened	-	3309_7:143807301-143807301 C>T_VIFATCVFVLVGLLSLILVSYMHIL
14:23863300-23863300 C>T	0.0	3309	MELANOMA	-	-	-	-	MYH6	ENST00000356287,p.D888N|uc001wjv.3,p.D888N|ENST00000405093,p.D888N|NM_002471,p.D888N	retained_intron, protein_coding	uc001wjv.3	nonsynonymous SNV	exon21	c.G2662A	p.D888N	EEKMVSLLQEKNDLQLQVQAEQDNL	EEKMVSLLQEKNNLQLQVQAEQDNL	1.0	10.0	unscreened	-	3309_14:23863300-23863300 C>T_EEKMVSLLQEKNNLQLQVQAEQDNL
18:47911657-47911657 C>T	1.0	3309	MELANOMA	-	-	-	-	SKA1	NM_145060,p.P128L|ENST00000285116,p.P128L|uc002let.3,p.P128L|uc002leu.3,p.P128L|NM_001039535,p.P128L|ENST00000398452,p.P128L	protein_coding	uc002leu.3	nonsynonymous SNV	exon5	c.C383T	p.P128L	IKVEEPEPVKKPPKEQRSIKEMPFI	IKVEEPEPVKKPLKEQRSIKEMPFI	7.0	8.0	unscreened	-	3309_18:47911657-47911657 C>T_IKVEEPEPVKKPLKEQRSIKEMPFI
14:63447646-63447646 C>T	0.0	3309	MELANOMA	-	-	-	-	KCNH5	uc001xfy.3,p.D296N|uc001xfx.3,p.D296N|ENST00000394964,p.D238N|NM_172375,p.D296N|ENST00000322893,p.D296N|uc001xfz.1,p.D238N|ENST00000420622,p.D296N|uc001xga.3,p.D238N|NM_139318,p.D296N|ENST00000394968,p.D238N	protein_coding	uc001xga.3	nonsynonymous SNV	exon6	c.G712A	p.D238N	IRMNYLKTWFVIDLLSCLPYDIINA	IRMNYLKTWFVINLLSCLPYDIINA	1.0	5.0	unscreened	-	3309_14:63447646-63447646 C>T_IRMNYLKTWFVINLLSCLPYDIINA
12:57437726-57437726 G>A	0.0	3309	MELANOMA	-	-	-	-	MYO1A	uc001smw.5,p.S269F|NM_001256041,p.S269F|NM_005379,p.S269F|ENST00000554234,p.S107F|uc009zpd.3,p.S269F|ENST00000544473,p.S107F|ENST00000300119,p.S269F|ENST00000442789,p.S269F|uc010sqz.2,p.S107F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sqz.2	nonsynonymous SNV	exon6	c.C320T	p.S107F	SEEEIRQVLEVTSMVLKLGNVLVAD	SEEEIRQVLEVTFMVLKLGNVLVAD	1.0	6.0	unscreened	-	3309_12:57437726-57437726 G>A_SEEEIRQVLEVTFMVLKLGNVLVAD
20:35240525-35240525 C>T	1.0	3309	MELANOMA	0.0005	-	ID=COSM1198595;OCCURENCE=1(large_intestine),1(breast)	-	C20orf24	uc002xfr.3,p.R111C|ENST00000342422,p.R111C|NM_199483,p.R111C	retained_intron, protein_coding, nonsense_mediated_decay	uc002xfr.3	nonsynonymous SNV	exon3	c.C331T	p.R111C	QRTLLITAQELDRWGTPAPWNLEDP	QRTLLITAQELDCWGTPAPWNLEDP	10.0	4.0	unscreened	-	3309_20:35240525-35240525 C>T_QRTLLITAQELDCWGTPAPWNLEDP
7:131832758-131832758 C>T	0.0	3309	MELANOMA	-	-	-	-	PLXNA4	NM_020911,p.V1589M|ENST00000359827,p.V1589M|ENST00000321063,p.V1589M|uc003vra.4,p.V1589M	retained_intron, protein_coding	uc003vra.4	nonsynonymous SNV	exon27	c.G4765A	p.V1589M	DWKRLNTLAHYQVPDGSVVALVSKQ	DWKRLNTLAHYQMPDGSVVALVSKQ	1.0	3.0	unscreened	-	3309_7:131832758-131832758 C>T_DWKRLNTLAHYQMPDGSVVALVSKQ
10:30317107-30317107 T>G	0.0	3309	MELANOMA	-	-	-	-	KIAA1462	ENST00000375377,p.E657A|uc009xle.2,p.E657A|NM_020848,p.E657A|uc001iuz.3,p.E519A|uc001iux.3,p.E657A	protein_coding, processed_transcript	uc009xle.2	nonsynonymous SNV	exon3	c.A1970C	p.E657A	TEFQKQDLGEPEEDRQTNDLSFIHL	TEFQKQDLGEPEADRQTNDLSFIHL	1.0	10.0	unscreened	-	3309_10:30317107-30317107 T>G_TEFQKQDLGEPEADRQTNDLSFIHL
1:43804295-43804295 G>A	0.0	3309	MELANOMA	-	-	-	1	MPL	ENST00000413998,p.E99K|uc001ciw.3,p.E99K|uc009vwr.3,p.E92K|NM_005373,p.E99K|ENST00000372470,p.E99K|uc001civ.3,p.E99K	protein_coding	uc009vwr.3	nonsynonymous SNV	exon3	c.G274A	p.E92K	FGTRYVCQFPDQEEVRLFFPLHLWV	FGTRYVCQFPDQKEVRLFFPLHLWV	1.0	4.0	unscreened	-	3309_1:43804295-43804295 G>A_FGTRYVCQFPDQKEVRLFFPLHLWV
15:54305786-54305786 G>A	0.0	3309	MELANOMA	-	-	-	-	UNC13C	ENST00000537900,p.G229E|uc021smr.1,p.G229E|ENST00000260323,p.G229E|uc021sms.1,p.G229E|ENST00000545554,p.G229E|NM_001080534,p.G229E	retained_intron, protein_coding	uc021sms.1	nonsynonymous SNV	exon1	c.G686A	p.G229E	TVRNPKTNALEPGFSSSGCISQTHD	TVRNPKTNALEPEFSSSGCISQTHD	1.0	1.0	unscreened	-	3309_15:54305786-54305786 G>A_TVRNPKTNALEPEFSSSGCISQTHD
8:80549105-80549105 C>T	0.0	3309	MELANOMA	-	-	-	-	STMN2	uc022awk.1,p.R30C|uc003ybj.3,p.R30C|NM_001199214,p.R30C|NM_007029,p.R30C|ENST00000518111,p.R30C|ENST00000518491,p.R19C|ENST00000220876,p.R30C	protein_coding	uc022awk.1	nonsynonymous SNV	exon2	c.C88T	p.R30C	LSLICSCFYPEPRNINIYTYDDMEV	LSLICSCFYPEPCNINIYTYDDMEV	1.0	1.0	unscreened	-	3309_8:80549105-80549105 C>T_LSLICSCFYPEPCNINIYTYDDMEV
2:186659553-186659553 A>C	0.0	3309	MELANOMA	-	-	-	-	FSIP2	ENST00000343098,p.S2653R|ENST00000424728,p.S2564R|uc002upl.3,p.S2653R|NM_173651,p.S2653R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon16	c.A7957C	p.S2653R	LVVVTSLYENNKSRTEVEISDHNDS	LVVVTSLYENNKRRTEVEISDHNDS	1.0	1.0	unscreened	-	3309_2:186659553-186659553 A>C_LVVVTSLYENNKRRTEVEISDHNDS
17:78071081-78071081 A>C	0.0	3309	MELANOMA	-	-	-	-	CCDC40	NM_017950,p.E1020A|uc002jxn.4,p.E416A|uc010dht.3,p.E1020A|uc002jxm.4,p.E803A|ENST00000397545,p.E1020A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dht.3	nonsynonymous SNV	exon19	c.A3059C	p.E1020A	ATDECTKTVLELEETQRNVSSSLLE	ATDECTKTVLELAETQRNVSSSLLE	5.0	3.0	unscreened	-	3309_17:78071081-78071081 A>C_ATDECTKTVLELAETQRNVSSSLLE
16:70866813-70866813 C>T	0.0	3309	MELANOMA	-	-	-	-	HYDIN	NM_001270974,p.G4613R|uc031qwy.1,p.G4613R|ENST00000393567,p.G4613R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon80	c.G13837A	p.G4613R	ESLCKNILCYIQGGSPLSLTLSGVC	ESLCKNILCYIQRGSPLSLTLSGVC	1.0	6.0	unscreened	-	3309_16:70866813-70866813 C>T_ESLCKNILCYIQRGSPLSLTLSGVC
7:100682039-100682039 A>G	0.0	3309	MELANOMA	-	-	-	-	MUC17	uc003uxp.1,p.T2448A|NM_001040105,p.T2448A|ENST00000306151,p.T2448A|ENST00000379439,p.T2448A	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.A7342G	p.T2448A	SSPTTAEGTSIPTSPPSEGTTPLAS	SSPTTAEGTSIPASPPSEGTTPLAS	1.0	9.0	unscreened	-	3309_7:100682039-100682039 A>G_SSPTTAEGTSIPASPPSEGTTPLAS
6:88854240-88854240 G>A	0.0	3309	MELANOMA	-	-	-	-	CNR1	uc011dzt.2,p.L252F|ENST00000369499,p.L252F|ENST00000549716,p.L191F|uc010kca.3,p.L219F|uc010kbz.3,p.L252F|ENST00000535130,p.L252F|uc003pmq.4,p.L252F|ENST00000537554,p.L252F|uc011dzs.2,p.L252F|ENST00000549890,p.L252F|ENST00000428600,p.L252F|ENST00000369501,p.L252F|NM_001160226,p.L252F|NM_001160259,p.L252F|NM_001160258,p.L252F|ENST00000468898,p.L219F|uc011dzr.2,p.L252F|uc021zco.1,p.L252F|NM_016083,p.L252F|NM_033181,p.L219F	protein_coding	uc021zco.1	nonsynonymous SNV	exon1	c.C754T	p.L252F	MWTIAIVIAVLPLLGWNCEKLQSVC	MWTIAIVIAVLPFLGWNCEKLQSVC	1.0	8.0	unscreened	-	3309_6:88854240-88854240 G>A_MWTIAIVIAVLPFLGWNCEKLQSVC
7:100637605-100637605 A>C	0.0	3309	MELANOMA	-	rs4248179	-	-	MUC12	ENST00000379442,p.K1397T|NM_001164462,p.K1254T|uc003uxo.3,p.K1254T|ENST00000536621,p.K1254T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.A3761C	p.K1254T	TTFPSSSGSTGTKLSPARSTTSGLV	TTFPSSSGSTGTTLSPARSTTSGLV	4.0	1.0	unscreened	-	3309_7:100637605-100637605 A>C_TTFPSSSGSTGTTLSPARSTTSGLV
1:70257751-70257751 G>A	0.0	3309	MELANOMA	-	-	-	-	LRRC7	uc001deo.1,p.R110Q|ENST00000370958,p.R110Q|ENST00000310961,p.R77Q|ENST00000035383,p.R72Q|uc001dep.3,p.R72Q|NM_020794,p.R72Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc001dep.3	nonsynonymous SNV	exon2	c.G215A	p.R72Q	ELPKQLFNCQALRKLSIPDNDLSNL	ELPKQLFNCQALQKLSIPDNDLSNL	2.0	8.0	unscreened	-	3309_1:70257751-70257751 G>A_ELPKQLFNCQALQKLSIPDNDLSNL
7:72732859-72732859 C>T	0.0	3309	MELANOMA	-	-	-	-	TRIM50	ENST00000453152,p.E230K|ENST00000333149,p.E230K|NM_001281450,p.E230K|uc010lbd.1,p.E230K|NM_178125,p.E230K|uc003txz.1,p.E230K|uc003txy.1,p.E230K|NM_001281451,p.E230K	retained_intron, protein_coding, processed_transcript	uc010lbd.1	nonsynonymous SNV	exon4	c.G688A	p.E230K	TRERLAQAECVLEQFGNEDHHKFIR	TRERLAQAECVLKQFGNEDHHKFIR	1.0	3.0	unscreened	-	3309_7:72732859-72732859 C>T_TRERLAQAECVLKQFGNEDHHKFIR
9:78547352-78547352 G>A	0.0	3309	MELANOMA	-	-	-	-	PCSK5	ENST00000376752,p.V84I|uc004akc.2,p.V84I|NM_006200,p.V84I|ENST00000545128,p.V84I|NM_001190482,p.V84I|uc004ajz.3,p.V84I|ENST00000376767,p.V84I|uc004ajy.2,p.V84I	protein_coding	uc004akc.2	nonsynonymous SNV	exon2	c.G250A	p.V84I	YHFYHSRTIKRSVISSRGTHSFISM	YHFYHSRTIKRSIISSRGTHSFISM	1.0	2.0	unscreened	-	3309_9:78547352-78547352 G>A_YHFYHSRTIKRSIISSRGTHSFISM
10:98080528-98080528 G>A	0.0	3309	MELANOMA	-	-	-	-	DNTT	ENST00000419175,p.V221M|uc001kmg.3,p.V221M|NM_001017520,p.V221M|ENST00000371174,p.V221M|NM_004088,p.V221M|uc001kmf.3,p.V221M	protein_coding	uc001kmg.3	nonsynonymous SNV	exon4	c.G661A	p.V221M	KDTEGIPCLGSKVKGIIEEIIEDGE	KDTEGIPCLGSKMKGIIEEIIEDGE	1.0	10.0	unscreened	-	3309_10:98080528-98080528 G>A_KDTEGIPCLGSKMKGIIEEIIEDGE
X:152845607-152845607 C>T	0.0	3309	MELANOMA	-	-	-	1	ATP2B3	uc010nuf.1,p.R309W|uc004fht.1,p.R1172W|uc004fhu.1,p.R124W|ENST00000349466,p.R1172W|NM_001001344,p.R1172W|ENST00000263519,p.R1172W	protein_coding, processed_transcript	uc010nuf.1	nonsynonymous SNV	exon6	c.C925T	p.R309W	DDTDVDENEERLRAPPPPSPNQNNN	DDTDVDENEERLWAPPPPSPNQNNN	1.0	10.0	unscreened	-	3309_X:152845607-152845607 C>T_DDTDVDENEERLWAPPPPSPNQNNN
3:46783977-46783977 G>A	0.0	3309	MELANOMA	-	-	-	-	PRSS45	ENST00000442359,p.P184S|uc010hjl.3,p.P184S|NM_199183,p.P184S	protein_coding, nonsense_mediated_decay	uc010hjl.3	nonsynonymous SNV	exon4	c.C550T	p.P184S	LSWEKACVKAQNPGVYTRITKYTKW	LSWEKACVKAQNSGVYTRITKYTKW	1.0	6.0	unscreened	-	3309_3:46783977-46783977 G>A_LSWEKACVKAQNSGVYTRITKYTKW
18:60036445-60036445 C>T	1.0	3309	MELANOMA	-	-	ID=COSM1711452;OCCURENCE=1(skin)	-	TNFRSF11A	NM_003839,p.P432L|NM_001278268,p.P418L|uc031rim.1,p.P418L|uc002lin.4,p.P432L|ENST00000586569,p.P432L	retained_intron, protein_coding	uc031rim.1	nonsynonymous SNV	exon9	c.C1253T	p.P418L	NYLQKEVDSGHCPHWAASPSPNWAD	NYLQKEVDSGHCLHWAASPSPNWAD	4.0	6.0	unscreened	-	3309_18:60036445-60036445 C>T_NYLQKEVDSGHCLHWAASPSPNWAD
8:2806889-2806889 C>T	0.0	3309	MELANOMA	-	-	-	-	CSMD1	ENST00000602723,p.R3269K|uc022aqr.1,p.R3445K|ENST00000400186,p.R3269K|ENST00000542608,p.R3268K|NM_033225,p.R3445K|uc011kwj.2,p.R2760K|ENST00000520002,p.R3446K|ENST00000602557,p.R3446K|ENST00000537824,p.R3445K|uc010lrg.3,p.R1337K	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon68	c.G10334A	p.R3445K	WGLDGYVSSGLERGGFTFQGDIHGK	WGLDGYVSSGLEKGGFTFQGDIHGK	5.0	6.0	unscreened	-	3309_8:2806889-2806889 C>T_WGLDGYVSSGLEKGGFTFQGDIHGK
15:74588284-74588284 G>A	0.0	3309	MELANOMA	-	-	-	-	CCDC33	uc002axo.4,p.D429N|uc002axp.3,p.D251N|NM_025055,p.D429N|ENST00000398814,p.D429N|ENST00000321288,p.D632N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002axp.3	nonsynonymous SNV	exon8	c.G751A	p.D251N	AEEEPLVPEMSHDTEMNNYRRAMQK	AEEEPLVPEMSHNTEMNNYRRAMQK	1.0	2.0	unscreened	-	3309_15:74588284-74588284 G>A_AEEEPLVPEMSHNTEMNNYRRAMQK
17:6718542-6718542 G>A	0.0	3309	MELANOMA	0.0027	-	-	-	TEKT1	uc002gdt.3,p.S190L|ENST00000338694,p.S190L|ENST00000535086,p.S44L|uc010vth.2,p.S44L|NM_053285,p.S190L	retained_intron, protein_coding, nonsense_mediated_decay	uc010vth.2	nonsynonymous SNV	exon4	c.C131T	p.S44L	KFVALTIDDICFSLNNNSPNIRYSE	KFVALTIDDICFLLNNNSPNIRYSE	1.0	4.0	unscreened	-	3309_17:6718542-6718542 G>A_KFVALTIDDICFLLNNNSPNIRYSE
20:57876774-57876774 C>T	0.0	3309	MELANOMA	-	-	-	-	EDN3	NM_000114,p.P121L|ENST00000395654,p.P121L|ENST00000337938,p.P121L|uc002yap.3,p.P121L|ENST00000371025,p.P121L|uc002yas.3,p.P121L|uc002yar.3,p.P121L|ENST00000371028,p.P121L|ENST00000311585,p.P121L|NM_207033,p.P121L|uc002yao.1,p.P121L|NM_207032,p.P121L|NM_207034,p.P121L|uc002yaq.3,p.P121L	protein_coding	uc002yas.3	nonsynonymous SNV	exon2	c.C362T	p.P121L	YYCHLDIIWINTPEQTVPYGLSNYR	YYCHLDIIWINTLEQTVPYGLSNYR	1.0	8.0	unscreened	-	3309_20:57876774-57876774 C>T_YYCHLDIIWINTLEQTVPYGLSNYR
1:248813312-248813312 G>A	0.0	3309	MELANOMA	-	-	-	-	OR2T27	uc010pzo.2,p.L292F|ENST00000344889,p.L292F|NM_001001824,p.L292F	protein_coding	uc010pzo.2	nonsynonymous SNV	exon1	c.C874T	p.L292F	ILTPMLNPLIYSLRNKDVTGALQKV	ILTPMLNPLIYSFRNKDVTGALQKV	1.0	8.0	unscreened	-	3309_1:248813312-248813312 G>A_ILTPMLNPLIYSFRNKDVTGALQKV
1:34276432-34276432 G>A	0.0	3309	MELANOMA	0.0005	-	-	-	CSMD2	uc001bxm.1,p.S453L|NM_001281956,p.S453L|uc001bxn.1,p.S413L|ENST00000373381,p.S453L|NM_052896,p.S413L|ENST00000241312,p.S413L	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxn.1	nonsynonymous SNV	exon10	c.C1238T	p.S413L	RARMCDAHLRGPSGIITSPNFPIQY	RARMCDAHLRGPLGIITSPNFPIQY	1.0	9.0	unscreened	-	3309_1:34276432-34276432 G>A_RARMCDAHLRGPLGIITSPNFPIQY
6:6589038-6589038 G>A	0.0	3309	MELANOMA	-	-	-	-	LY86	uc003mwy.1,p.G24E|ENST00000379953,p.G24E|NM_004271,p.G24E|ENST00000230568,p.G24E	protein_coding	uc003mwy.1	nonsynonymous SNV	exon1	c.G71A	p.G24E	TLIFPSCSGGGGGKAWPTHVVCSDS	TLIFPSCSGGGGEKAWPTHVVCSDS	1.0	9.0	unscreened	-	3309_6:6589038-6589038 G>A_TLIFPSCSGGGGEKAWPTHVVCSDS
2:212251754-212251754 A>C	0.0	3309	MELANOMA	-	-	ID=COSM3962316,COSM3962315;OCCURENCE=1(lung)	1	ERBB4	ENST00000342788,p.F1102C|uc010zji.1,p.F1092C|NM_005235,p.F1102C|uc002veh.1,p.F1086C|ENST00000436443,p.F1086C|NM_001042599,p.F1086C|uc010zjj.1,p.F1076C|ENST00000402597,p.F1092C|uc002veg.1,p.F1102C	retained_intron, protein_coding, processed_transcript	uc010zjj.1	nonsynonymous SNV	exon26	c.T3227G	p.F1076C	EAPVAQGATAEIFDDSCCNGTLRKP	EAPVAQGATAEICDDSCCNGTLRKP	1.0	1.0	unscreened	-	3309_2:212251754-212251754 A>C_EAPVAQGATAEICDDSCCNGTLRKP
1:169099251-169099251 C>T	0.0	3309	MELANOMA	-	-	-	-	ATP1B1	ENST00000367815,p.P191S|NM_001677,p.P191S|uc001gfr.1,p.P191S|ENST00000367816,p.P191S|ENST00000367813,p.P183S|ENST00000499679,p.P135S	protein_coding, processed_transcript	uc001gfr.1	nonsynonymous SNV	exon5	c.C571T	p.P191S	KLNRVLGFKPKPPKNESLETYPVMK	KLNRVLGFKPKPSKNESLETYPVMK	5.0	5.0	unscreened	-	3309_1:169099251-169099251 C>T_KLNRVLGFKPKPSKNESLETYPVMK
3:122437286-122437286 C>T	0.0	3309	MELANOMA	-	-	-	-	PARP14	uc003efs.1,p.R1147W|NM_017554,p.R1430W|ENST00000460683,p.R1271W|uc003efq.4,p.R1430W|uc003efr.3,p.R1147W|uc021xdc.1,p.R1294W|ENST00000474629,p.R1430W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xdc.1	nonsynonymous SNV	exon11	c.C3880T	p.R1294W	LVLEKKTESATFRVCGENVTCVEYA	LVLEKKTESATFWVCGENVTCVEYA	5.0	6.0	unscreened	-	3309_3:122437286-122437286 C>T_LVLEKKTESATFWVCGENVTCVEYA
1:242277216-242277216 G>A	0.0	3309	MELANOMA	-	-	-	-	PLD5	ENST00000442594,p.P257L|NM_152666,p.P349L|uc001hzm.4,p.P141L|ENST00000427495,p.P287L|uc001hzn.2,p.P349L|ENST00000536534,p.P349L|uc001hzl.4,p.P287L|NM_001195811,p.P287L|NM_001195812,p.P141L|uc001hzo.2,p.P257L	protein_coding, processed_transcript, nonsense_mediated_decay	uc001hzo.2	nonsynonymous SNV	exon8	c.C770T	p.P257L	KQYVYIAVMDYLPISSTSTKRTYWP	KQYVYIAVMDYLLISSTSTKRTYWP	1.0	3.0	unscreened	-	3309_1:242277216-242277216 G>A_KQYVYIAVMDYLLISSTSTKRTYWP
19:4294583-4294583 C>T	0.0	3309	MELANOMA	-	-	-	-	TMIGD2	uc021umz.1,p.G65E	protein_coding	uc021umz.1	nonsynonymous SNV	exon3	c.G194A	p.G65E	VPGSGAAAAASKGTQVTAQEMHSTA	VPGSGAAAAASKETQVTAQEMHSTA	1.0	2.0	unscreened	-	3309_19:4294583-4294583 C>T_VPGSGAAAAASKETQVTAQEMHSTA
1:196695920-196695920 G>A	0.0	3309	MELANOMA	-	-	-	-	CFH	NM_000186,p.E696K|uc001gtj.4,p.E696K|ENST00000367429,p.E696K	retained_intron, protein_coding, ambiguous_orf	uc001gtj.4	nonsynonymous SNV	exon14	c.G2086A	p.E696K	CIVEESTCGDIPELEHGWAQLSSPP	CIVEESTCGDIPKLEHGWAQLSSPP	3.0	4.0	unscreened	-	3309_1:196695920-196695920 G>A_CIVEESTCGDIPKLEHGWAQLSSPP
7:70853310-70853310 C>T	0.0	3309	MELANOMA	-	-	-	-	WBSCR17	ENST00000333538,p.S171F|uc003tvy.4,p.S171F|NM_022479,p.S171F|ENST00000447516,p.S149F	protein_coding, processed_transcript	uc003tvy.4	nonsynonymous SNV	exon3	c.C512T	p.S171F	IFVNEALSVILRSVHSAVNHTPTHL	IFVNEALSVILRFVHSAVNHTPTHL	1.0	6.0	unscreened	-	3309_7:70853310-70853310 C>T_IFVNEALSVILRFVHSAVNHTPTHL
4:155305528-155305528 C>T	0.0	3309	MELANOMA	-	-	ID=COSM1695121;OCCURENCE=1(skin),2(NS)	-	DCHS2	uc003inw.2,p.E76K|ENST00000357232,p.E76K|NM_017639,p.E76K	protein_coding, processed_transcript	uc003inw.2	nonsynonymous SNV	exon2	c.G226A	p.E76K	FRSQEENAKPVKETEVTASDADSGL	FRSQEENAKPVKKTEVTASDADSGL	1.0	8.0	unscreened	-	3309_4:155305528-155305528 C>T_FRSQEENAKPVKKTEVTASDADSGL
9:7103713-7103713 A>G	1.0	3309	MELANOMA	-	-	-	-	KDM4C	ENST00000536108,p.R601G	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000536108	nonsynonymous SNV	exon16	c.A1801G	p.R601G	NNKNASSADTGLRGSLEPASSVPTV	NNKNASSADTGLGGSLEPASSVPTV	6.0	2.0	unscreened	-	3309_9:7103713-7103713 A>G_NNKNASSADTGLGGSLEPASSVPTV
20:43927103-43927103 G>A	0.0	3309	MELANOMA	-	-	-	-	MATN4	ENST00000360607,p.S337F|NM_030592,p.S296F|ENST00000372754,p.S419F|uc002xnr.1,p.S378F|ENST00000342716,p.S378F|ENST00000353917,p.S296F|uc002xno.2,p.S337F|uc010zwr.1,p.S326F|NM_003833,p.S378F|ENST00000372751,p.S229F|NM_030590,p.S337F|ENST00000372756,p.S378F|ENST00000372753,p.S229F|uc002xnp.2,p.S296F|ENST00000537548,p.S378F|uc002xnn.2,p.S378F	protein_coding	uc010zwr.1	nonsynonymous SNV	exon6	c.C977T	p.S326F	RFVNQIVDFLDVSPEGTRVGLVQFS	RFVNQIVDFLDVFPEGTRVGLVQFS	1.0	8.0	unscreened	-	3309_20:43927103-43927103 G>A_RFVNQIVDFLDVFPEGTRVGLVQFS
1:216692626-216692626 C>T	0.0	3309	MELANOMA	-	-	ID=COSM1689863;OCCURENCE=1(skin)	-	ESRRG	NM_001243512,p.E311K|ENST00000493603,p.E311K|NM_001243519,p.E311K|ENST00000359162,p.E311K|NM_001243514,p.E311K|ENST00000366940,p.E311K|uc001hlb.2,p.E311K|ENST00000463665,p.E272K|NM_001243511,p.E311K|NM_001243513,p.E311K|ENST00000361395,p.E311K|uc001hky.1,p.E311K|uc001hla.2,p.E311K|NM_001243509,p.E311K|ENST00000475275,p.E311K|ENST00000366938,p.E311K|uc001hlc.1,p.E311K|NM_001243507,p.E272K|uc021piz.1,p.E311K|uc009xdp.1,p.E311K|uc001hkz.2,p.E272K|ENST00000408911,p.E334K|uc001hle.2,p.E311K|NM_001243518,p.E346K|NM_001243506,p.E149K|NM_001243510,p.E311K|ENST00000360012,p.E311K|NM_206595,p.E311K|NM_001134285,p.E311K|uc009xdo.2,p.E311K|ENST00000493748,p.E311K|ENST00000391890,p.E318K|NM_001243515,p.E311K|NM_001438,p.E334K|uc021pja.1,p.E83K|NM_001243505,p.E83K|uc001hld.1,p.E311K|uc001hkx.2,p.E346K|NM_206594,p.E311K|uc010pud.2,p.E149K|uc001hkw.2,p.E334K|ENST00000366937,p.E346K|ENST00000361525,p.E311K|uc010puc.2,p.E311K|ENST00000487276,p.E311K	protein_coding, processed_transcript, nonsense_mediated_decay	uc021pja.1	nonsynonymous SNV	exon6	c.G247A	p.E83K	DELVYADDYIMDEDQSKLAGLLDLN	DELVYADDYIMDKDQSKLAGLLDLN	4.0	2.0	unscreened	-	3309_1:216692626-216692626 C>T_DELVYADDYIMDKDQSKLAGLLDLN
11:56057856-56057856 T>A	0.0	3309	MELANOMA	-	-	-	-	OR8H1	uc010rje.2,p.N228I|ENST00000313022,p.N228I|NM_001005199,p.N228I	protein_coding	uc010rje.2	nonsynonymous SNV	exon1	c.A683T	p.N228I	SYVSILSTILKINSTSGKQKALSTC	SYVSILSTILKIISTSGKQKALSTC	1.0	6.0	unscreened	-	3309_11:56057856-56057856 T>A_SYVSILSTILKIISTSGKQKALSTC
19:22156170-22156170 C>T	0.0	3309	MELANOMA	-	-	-	-	ZNF208	ENST00000397126,p.E556K|uc021urr.1,p.E556K|NM_007153,p.E556K	protein_coding	uc021urr.1	nonsynonymous SNV	exon4	c.G1666A	p.E556K	KVIHTGEKPYKCEECGKAYKWSSTL	KVIHTGEKPYKCKECGKAYKWSSTL	3.0	9.0	unscreened	-	3309_19:22156170-22156170 C>T_KVIHTGEKPYKCKECGKAYKWSSTL
8:113585801-113585801 G>A	0.0	3309	MELANOMA	-	-	-	2	CSMD3	uc003ynu.3,p.S1324L|NM_052900,p.S1220L|ENST00000339701,p.S664L|uc003yns.3,p.S596L|ENST00000455883,p.S1220L|uc003ynt.3,p.S1284L|ENST00000297405,p.S1324L|NM_198124,p.S1284L|NM_198123,p.S1324L|ENST00000343508,p.S1284L|uc011lhx.2,p.S1220L|ENST00000352409,p.S1324L	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon23	c.C3659T	p.S1220L	GASMRGLTLSSTSNQLWLEFNSDTE	GASMRGLTLSSTLNQLWLEFNSDTE	1.0	6.0	unscreened	-	3309_8:113585801-113585801 G>A_GASMRGLTLSSTLNQLWLEFNSDTE
11:17591889-17591889 C>T	0.0	3309	MELANOMA	-	-	-	-	OTOG	ENST00000399391,p.T648I|NM_001277269,p.T648I|NM_001292063,p.T636I|uc031pzc.1,p.T648I|ENST00000399397,p.T575I	retained_intron, protein_coding, processed_transcript	uc031pzc.1	nonsynonymous SNV	exon16	c.C1943T	p.T648I	LYLQVDQRWVEDTVGLCGTFNGNTQ	LYLQVDQRWVEDIVGLCGTFNGNTQ	1.0	10.0	unscreened	-	3309_11:17591889-17591889 C>T_LYLQVDQRWVEDIVGLCGTFNGNTQ
7:136700510-136700510 G>A	0.0	3309	MELANOMA	-	-	-	-	CHRM2	ENST00000401861,p.E300K|uc003vtg.1,p.E300K|NM_001006629,p.E300K|uc022ame.1,p.E300K|ENST00000320658,p.E300K|uc003vtn.1,p.E300K|uc003vti.1,p.E300K|NM_001006628,p.E300K|uc003vtf.1,p.E300K|uc003vto.1,p.E300K|NM_000739,p.E300K|ENST00000445907,p.E300K|NM_001006626,p.E300K|ENST00000402486,p.E300K|NM_001006630,p.E300K|ENST00000453373,p.E300K|NM_001006631,p.E300K|NM_001006627,p.E300K|uc003vtj.1,p.E300K|ENST00000397608,p.E300K|uc003vtm.1,p.E300K|uc003vtk.1,p.E300K|uc003vtl.1,p.E300K|NM_001006632,p.E300K	protein_coding, processed_transcript	uc022ame.1	nonsynonymous SNV	exon1	c.G898A	p.E300K	SVSAVASNMRDDEITQDENTVSTSL	SVSAVASNMRDDKITQDENTVSTSL	1.0	2.0	unscreened	-	3309_7:136700510-136700510 G>A_SVSAVASNMRDDKITQDENTVSTSL
6:38810244-38810244 G>A	0.0	3309	MELANOMA	-	-	-	-	DNAH8	ENST00000441566,p.E1306K|ENST00000449981,p.E1523K|ENST00000327475,p.E1511K|uc003ooe.2,p.E1306K|NM_001206927,p.E1523K|uc021yzh.1,p.E1523K|ENST00000359357,p.E1306K	protein_coding	uc021yzh.1	nonsynonymous SNV	exon34	c.G4567A	p.E1523K	GYYEILWGDVDIEKINAELLEFQNR	GYYEILWGDVDIKKINAELLEFQNR	1.0	9.0	unscreened	-	3309_6:38810244-38810244 G>A_GYYEILWGDVDIKKINAELLEFQNR
19:36321760-36321760 C>T	0.0	3309	MELANOMA	-	-	ID=COSM140216;OCCURENCE=1(skin)	-	NPHS1	ENST00000378910,p.D1194N|ENST00000353632,p.D1154N|NM_004646,p.D1194N|uc002oby.3,p.D1194N	retained_intron, protein_coding	uc002oby.3	nonsynonymous SNV	exon28	c.G3580A	p.D1194N	TYPPSGAWGPLYDEVQMGPWDLHWP	TYPPSGAWGPLYNEVQMGPWDLHWP	1.0	1.0	unscreened	-	3309_19:36321760-36321760 C>T_TYPPSGAWGPLYNEVQMGPWDLHWP
3:3886449-3886449 C>T	0.0	3309	MELANOMA	-	-	-	-	LRRN1	NM_020873,p.P42S|uc003bpt.4,p.P42S|ENST00000319331,p.P42S|uc021wsh.1,p.P42S	retained_intron, protein_coding, processed_transcript	uc021wsh.1	nonsynonymous SNV	exon1	c.C124T	p.P42S	SECPQLCVCEIRPWFTPQSTYREAT	SECPQLCVCEIRSWFTPQSTYREAT	1.0	6.0	unscreened	-	3309_3:3886449-3886449 C>T_SECPQLCVCEIRSWFTPQSTYREAT
3:130289778-130289778 G>A	0.0	3309	MELANOMA	-	-	-	-	COL6A6	ENST00000453409,p.D840N|ENST00000358511,p.D840N|NM_001102608,p.D840N|uc010htl.3,p.D840N	protein_coding, nonsense_mediated_decay	uc010htl.3	nonsynonymous SNV	exon6	c.G2518A	p.D840N	MKDFMIGLVKKADVGKNQVRFGALK	MKDFMIGLVKKANVGKNQVRFGALK	1.0	7.0	unscreened	-	3309_3:130289778-130289778 G>A_MKDFMIGLVKKANVGKNQVRFGALK
2:135988320-135988320 G>A	0.0	3309	MELANOMA	-	-	-	-	ZRANB3	NM_001286568,p.P573S|ENST00000401392,p.P573S|ENST00000264159,p.P573S|uc002tul.3,p.P573S|uc002tum.3,p.P573S|NM_032143,p.P573S|uc002tuk.3,p.P116S|NM_001286569,p.P119S|ENST00000536680,p.P573S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tum.3	nonsynonymous SNV	exon13	c.C1717T	p.P573S	ARDIIDYESDVEPETKRLKLAASED	ARDIIDYESDVESETKRLKLAASED	6.0	2.0	unscreened	-	3309_2:135988320-135988320 G>A_ARDIIDYESDVESETKRLKLAASED
4:147724837-147724837 C>T	0.0	3309	MELANOMA	-	-	-	-	TTC29	ENST00000513335,p.G394R|ENST00000325106,p.G368R|uc003ikw.4,p.G368R|uc010ipd.1,p.G368R|NM_031956,p.G368R|uc003ikx.4,p.G394R|ENST00000398886,p.G394R|NM_001300761,p.G394R|ENST00000504425,p.G368R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ipd.1	nonsynonymous SNV	exon11	c.G1102A	p.G368R	ASTMLGDIYNEKGYYNKASECFQQA	ASTMLGDIYNEKRYYNKASECFQQA	1.0	5.0	unscreened	-	3309_4:147724837-147724837 C>T_ASTMLGDIYNEKRYYNKASECFQQA
8:131955650-131955650 C>T	0.0	3309	MELANOMA	-	-	-	-	ADCY8	ENST00000377928,p.E434K|uc003ytd.4,p.E434K|ENST00000522949,p.E49K|uc010mds.3,p.E434K|ENST00000286355,p.E434K|NM_001115,p.E434K	protein_coding	uc010mds.3	nonsynonymous SNV	exon4	c.G1300A	p.E434K	GFTNLSTTLSAQELVRMLNELFARF	GFTNLSTTLSAQKLVRMLNELFARF	1.0	4.0	unscreened	-	3309_8:131955650-131955650 C>T_GFTNLSTTLSAQKLVRMLNELFARF
8:26365302-26365302 A>C	1.0	3309	MELANOMA	-	-	-	-	PNMA2	uc003xez.2,p.F324V|NM_007257,p.F324V|uc022atc.1,p.F324V|ENST00000522362,p.F324V	retained_intron, protein_coding, processed_transcript	uc022atc.1	nonsynonymous SNV	exon1	c.T970G	p.F324V	LRELKDQGPPPSFLELMKVIREEEE	LRELKDQGPPPSVLELMKVIREEEE	4.0	7.0	unscreened	-	3309_8:26365302-26365302 A>C_LRELKDQGPPPSVLELMKVIREEEE
1:152882714-152882714 G>A	0.0	3309	MELANOMA	-	-	-	-	IVL	NM_005547,p.M147I|uc001fau.3,p.M147I|ENST00000368764,p.M147I|uc021ozl.1,p.M147I	protein_coding	uc021ozl.1	nonsynonymous SNV	exon1	c.G441A	p.M147I	DQELVKRDEQLGMKKEQLLELPEQQ	DQELVKRDEQLGIKKEQLLELPEQQ	1.0	9.0	unscreened	-	3309_1:152882714-152882714 G>A_DQELVKRDEQLGIKKEQLLELPEQQ
9:117550-117550 A>C	0.0	3309	MELANOMA	-	-	-	-	FOXD4	uc003zfz.4,p.N190K|NM_207305,p.N190K|ENST00000382500,p.N190K	protein_coding	uc003zfz.4	nonsynonymous SNV	exon1	c.T570G	p.N190K	WSLDPASQDMFDNGSFLRRRKRFQR	WSLDPASQDMFDKGSFLRRRKRFQR	1.0	8.0	unscreened	-	3309_9:117550-117550 A>C_WSLDPASQDMFDKGSFLRRRKRFQR
1:18661417-18661417 C>T	0.0	3309	MELANOMA	-	-	-	-	IGSF21	ENST00000251296,p.P113S|NM_032880,p.P113S|uc001bau.2,p.P113S	retained_intron, protein_coding, processed_transcript	uc001bau.2	nonsynonymous SNV	exon4	c.C337T	p.P113S	VRLPEVRISDNGPYECHVGIYDRAT	VRLPEVRISDNGSYECHVGIYDRAT	1.0	3.0	unscreened	-	3309_1:18661417-18661417 C>T_VRLPEVRISDNGSYECHVGIYDRAT
10:116304819-116304819 A>C	0.0	3309	MELANOMA	-	-	-	-	ABLIM1	uc021pze.1,p.L204R|ENST00000277895,p.L280R|NM_001003408,p.L220R|ENST00000369256,p.L220R|uc021pzd.1,p.L128R|uc021pyx.1,p.L280R|NM_001003407,p.L220R|ENST00000533213,p.L220R|NM_002313,p.L280R|uc021pyw.1,p.L280R|uc021pza.1,p.L220R|uc021pzf.1,p.L214R|ENST00000392955,p.L220R|uc021pyy.1,p.L220R|ENST00000369252,p.L220R	protein_coding, processed_transcript	uc021pzf.1	nonsynonymous SNV	exon6	c.T641G	p.L214R	DGAPYCEKDYQGLFGVKCEACHQFI	DGAPYCEKDYQGRFGVKCEACHQFI	1.0	6.0	unscreened	-	3309_10:116304819-116304819 A>C_DGAPYCEKDYQGRFGVKCEACHQFI
19:38379710-38379710 T>G	0.0	3309	MELANOMA	-	-	-	-	WDR87	uc002ohj.2,p.K1534T|NM_001291088,p.K1534T|ENST00000303868,p.K1495T|NM_031951,p.K1495T|uc010efu.2,p.K1495T|ENST00000447313,p.K1534T	retained_intron, protein_coding	uc010efu.2	nonsynonymous SNV	exon6	c.A4484C	p.K1495T	EEWEKRLLQEEEKLHQAGEKLSPEE	EEWEKRLLQEEETLHQAGEKLSPEE	1.0	9.0	unscreened	-	3309_19:38379710-38379710 T>G_EEWEKRLLQEEETLHQAGEKLSPEE
1:190067669-190067669 G>A	0.0	3309	MELANOMA	-	-	ID=COSM1689439;OCCURENCE=1(skin)	-	BRINP3	ENST00000367462,p.P594S|NM_199051,p.P594S|ENST00000534846,p.P492S|uc010pot.1,p.P492S|uc001gse.1,p.P594S	protein_coding, processed_transcript	uc010pot.1	nonsynonymous SNV	exon7	c.C1474T	p.P492S	ESWFMPVNENSFPDWERTKLDLPLQ	ESWFMPVNENSFSDWERTKLDLPLQ	1.0	8.0	unscreened	-	3309_1:190067669-190067669 G>A_ESWFMPVNENSFSDWERTKLDLPLQ
7:143053789-143053789 C>T	0.0	3309	MELANOMA	-	-	-	2	FAM131B	NM_014690,p.E285K|ENST00000409346,p.E285K|NM_001278297,p.E219K|ENST00000409222,p.E285K|uc010lpa.3,p.E313K|uc003wct.3,p.E285K|uc003wcu.4,p.E285K|uc031szl.1,p.E219K|ENST00000409578,p.E301K|ENST00000443739,p.E313K|ENST00000409408,p.E285K|uc010loz.3,p.E253K|NM_001031690,p.E313K	retained_intron, protein_coding, nonsense_mediated_decay	uc031szl.1	nonsynonymous SNV	exon6	c.G655A	p.E219K	AEEEKRPLAPEEEEDAGCRDLESLS	AEEEKRPLAPEEKEDAGCRDLESLS	1.0	9.0	unscreened	-	3309_7:143053789-143053789 C>T_AEEEKRPLAPEEKEDAGCRDLESLS
2:241570268-241570268 G>A	0.0	3309	MELANOMA	-	-	-	-	GPR35	ENST00000430267,p.S300N|uc021vze.1,p.S300N|uc002vzs.2,p.S300N|uc010fzi.2,p.S331N|uc010fzh.2,p.S331N|ENST00000407714,p.S300N|NM_005301,p.S300N|ENST00000403859,p.S300N|ENST00000319838,p.S300N|NM_001195382,p.S331N|ENST00000438013,p.S331N|NM_001195381,p.S331N	protein_coding	uc021vze.1	nonsynonymous SNV	exon2	c.G899A	p.S300N	ALAVAPSAKAHKSQDSLCVTLA	ALAVAPSAKAHKNQDSLCVTLA	4.0	9.0	unscreened	-	3309_2:241570268-241570268 G>A_ALAVAPSAKAHKNQDSLCVTLA
12:54971035-54971035 G>A	0.0	3309	MELANOMA	-	-	-	-	PDE1B	NM_001288769,p.E471K|NM_001165975,p.E492K|uc010soz.2,p.E375K|ENST00000550620,p.E492K|uc009znq.3,p.E308K|NM_000924,p.E512K|ENST00000243052,p.E512K|NM_001288768,p.E375K|uc001sgd.2,p.E512K|ENST00000538346,p.E471K|uc001sge.3,p.E492K|uc001sgf.3,p.E375K|uc010spa.1,p.E471K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010spa.1	nonsynonymous SNV	exon14	c.G1411A	p.E471K	AASGITNQMSIDELSPCEEEAPPSP	AASGITNQMSIDKLSPCEEEAPPSP	1.0	5.0	unscreened	-	3309_12:54971035-54971035 G>A_AASGITNQMSIDKLSPCEEEAPPSP
12:105445973-105445973 G>C	0.0	3309	MELANOMA	-	-	-	-	ALDH1L2	ENST00000258494,p.A477G|ENST00000424857,p.A477G|NM_001034173,p.A477G|uc001tlc.3,p.A477G	retained_intron, protein_coding, nonsense_mediated_decay	uc001tlc.3	nonsynonymous SNV	exon12	c.C1430G	p.A477G	PTDGSTICKVSYASLADVDKAVAAA	PTDGSTICKVSYGSLADVDKAVAAA	4.0	3.0	unscreened	-	3309_12:105445973-105445973 G>C_PTDGSTICKVSYGSLADVDKAVAAA
12:11083348-11083348 G>A	0.0	3309	MELANOMA	-	-	-	-	PRH2	NM_001110213,p.G63E|uc001qzh.3,p.G63E|ENST00000396400,p.G63E|uc009zhr.3,p.G63E|NM_005042,p.G63E|uc001qzi.4,p.G63E|ENST00000381847,p.G63E	protein_coding	uc009zhr.3	nonsynonymous SNV	exon3	c.G188A	p.G63E	LGGQQSQPSAGDGNQNDGPQQGPPQ	LGGQQSQPSAGDENQNDGPQQGPPQ	1.0	9.0	unscreened	-	3309_12:11083348-11083348 G>A_LGGQQSQPSAGDENQNDGPQQGPPQ
6:112382246-112382246 G>A	0.0	3309	MELANOMA	-	-	-	-	WISP3	ENST00000604763,p.R34K|ENST00000230529,p.R34K|ENST00000454589,p.R34K|NM_003880,p.R34K|NM_198239,p.R52K|ENST00000361714,p.R52K|ENST00000368666,p.R34K|ENST00000368664,p.R52K|uc003pvo.3,p.R52K|uc003pvm.3,p.R34K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003pvo.3	nonsynonymous SNV	exon2	c.G155A	p.R52K	QGTGPLDTTPEGRPGEVSDAPQRKQ	QGTGPLDTTPEGKPGEVSDAPQRKQ	2.0	4.0	unscreened	-	3309_6:112382246-112382246 G>A_QGTGPLDTTPEGKPGEVSDAPQRKQ
13:32363282-32363282 C>T	0.0	3309	MELANOMA	-	-	-	-	RXFP2	ENST00000380314,p.P342L|uc010aba.3,p.P342L|NM_001166058,p.P342L|ENST00000298386,p.P366L|NM_130806,p.P366L|uc001utt.3,p.P366L	protein_coding	uc010aba.3	nonsynonymous SNV	exon13	c.C1025T	p.P342L	QLQSLDLERIEIPNINTRMFQPMKN	QLQSLDLERIEILNINTRMFQPMKN	1.0	3.0	unscreened	-	3309_13:32363282-32363282 C>T_QLQSLDLERIEILNINTRMFQPMKN
1:38078553-38078553 A>C	0.0	3309	MELANOMA	-	-	-	-	RSPO1	ENST00000401071,p.N159K|uc001cbl.2,p.N222K|ENST00000401068,p.N222K|uc001cbm.2,p.N222K|ENST00000373059,p.N195K|uc009vvf.2,p.N195K|uc009vvg.2,p.N159K|NM_001242908,p.N222K|ENST00000401069,p.N222K|NM_001242910,p.N159K|NM_001242909,p.N195K|ENST00000356545,p.N222K|NM_001038633,p.N222K|ENST00000401070,p.N159K	protein_coding	uc009vvg.2	nonsynonymous SNV	exon6	c.T477G	p.N159K	QKRRKGGQGRRENANRNLARKESKE	QKRRKGGQGRREKANRNLARKESKE	2.0	5.0	unscreened	-	3309_1:38078553-38078553 A>C_QKRRKGGQGRREKANRNLARKESKE
12:81101719-81101719 C>T	0.0	3309	MELANOMA	-	-	-	-	MYF6	uc001szf.2,p.P74L|NM_002469,p.P74L|ENST00000228641,p.P74L	protein_coding	uc001szf.2	nonsynonymous SNV	exon1	c.C221T	p.P74L	VLAPPGLQPPHCPGQCLIWACKTCK	VLAPPGLQPPHCLGQCLIWACKTCK	1.0	2.0	unscreened	-	3309_12:81101719-81101719 C>T_VLAPPGLQPPHCLGQCLIWACKTCK
4:91549299-91549299 A>G	0.0	3309	MELANOMA	-	-	-	-	CCSER1	ENST00000505073,p.I616M|uc003hsw.3,p.I616M|uc003hsv.4,p.I616M|NM_001145065,p.I616M|ENST00000432775,p.I616M|NM_207491,p.I616M|ENST00000333691,p.I616M|ENST00000509176,p.I616M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003hsw.3	nonsynonymous SNV	exon6	c.A1848G	p.I616M	DWPLQGVEENGGIDSLPFRLMLQDC	DWPLQGVEENGGMDSLPFRLMLQDC	2.0	8.0	unscreened	-	3309_4:91549299-91549299 A>G_DWPLQGVEENGGMDSLPFRLMLQDC
9:39149853-39149853 C>-	0.0	3309	MELANOMA	-	-	-	-	CNTNAP3	ENST00000377656,p.A533fs|ENST00000358144,p.A445fs|NM_033655,p.A533fs|ENST00000297668,p.A533fs|uc004abi.3,p.A533fs|uc004abk.1,p.A533fs|ENST00000377659,p.A533fs|uc004abj.3,p.A533fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc004abk.1	frameshift deletion	exon10	c.1599delG	p.A533fs	DKAVDPILVQQGALGSFRDLQIDSC	DKAVDPILVQQGAWGVSGTSR	1.0	2.0	unscreened	-	3309_9:39149853-39149853 C>-_DKAVDPILVQQGAWGVSGTSR
19:17108078-17108078 C>T	0.0	3309	MELANOMA	-	-	-	-	CPAMD8	ENST00000291440,p.R360Q|uc002nfb.3,p.R360Q|ENST00000388925,p.R313Q|ENST00000443236,p.R360Q|NM_015692,p.R360Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nfb.3	nonsynonymous SNV	exon11	c.G1079A	p.R360Q	RDMIPADVPEHFRGRVSIWAMVTSV	RDMIPADVPEHFQGRVSIWAMVTSV	1.0	4.0	unscreened	-	3309_19:17108078-17108078 C>T_RDMIPADVPEHFQGRVSIWAMVTSV
12:126138909-126138909 C>T	0.0	3309	MELANOMA	-	-	ID=COSM109649;OCCURENCE=1(skin)	-	TMEM132B	ENST00000535886,p.P476S|NM_001286219,p.P476S|uc001uhf.1,p.P476S|NM_052907,p.P964S|ENST00000299308,p.P964S|uc001uhe.1,p.P964S	retained_intron, protein_coding, processed_transcript	uc001uhf.1	nonsynonymous SNV	exon5	c.C1426T	p.P476S	VELLENPVDITLPSEECTTMIDRGL	VELLENPVDITLSSEECTTMIDRGL	3.0	5.0	unscreened	-	3309_12:126138909-126138909 C>T_VELLENPVDITLSSEECTTMIDRGL
3:195516880-195516880 C>T	0.0	3309	MELANOMA	-	-	-	2	MUC4	NM_018406,p.G524E|uc021xjq.1,p.G406E|uc021xjp.1,p.G524E|ENST00000466475,p.G524E|ENST00000463781,p.G524E|ENST00000479406,p.G524E|ENST00000470451,p.G524E|ENST00000477086,p.G524E|ENST00000480843,p.G524E|ENST00000477756,p.G524E|ENST00000462323,p.G524E|ENST00000475231,p.G524E|ENST00000478156,p.G524E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjq.1	nonsynonymous SNV	exon1	c.G1217A	p.G406E	AATRLVTGNPSTGTAGTIPRVPSKV	AATRLVTGNPSTETAGTIPRVPSKV	1.0	4.0	unscreened	-	3309_3:195516880-195516880 C>T_AATRLVTGNPSTETAGTIPRVPSKV
1:157668345-157668345 T>G	0.0	3309	MELANOMA	-	-	-	-	FCRL3	uc001frc.1,p.I43L|NM_052939,p.I43L|ENST00000368186,p.I43L|ENST00000477837,p.I43L|ENST00000496769,p.I43L|ENST00000485028,p.I43L|ENST00000492769,p.I43L|ENST00000368184,p.I43L|uc001fqz.4,p.I43L|uc001frb.3,p.I43L	protein_coding, processed_transcript, nonsense_mediated_decay	uc001frc.1	nonsynonymous SNV	exon4	c.A127C	p.I43L	WSTAFKGEKVALICSSISHSLAQGD	WSTAFKGEKVALLCSSISHSLAQGD	1.0	2.0	unscreened	-	3309_1:157668345-157668345 T>G_WSTAFKGEKVALLCSSISHSLAQGD
16:21210156-21210156 A>C	0.0	3309	MELANOMA	-	-	-	-	ZP2	NM_003460,p.M652R|ENST00000574091,p.M643R|ENST00000574002,p.M652R|ENST00000219593,p.M652R|uc010bwn.1,p.M682R|NM_001290104,p.M643R|uc002dii.2,p.M652R	retained_intron, protein_coding	uc010bwn.1	nonsynonymous SNV	exon17	c.T2045G	p.M682R	HRRATGATEAEKMTVSLPGPILLLS	HRRATGATEAEKRTVSLPGPILLLS	1.0	6.0	unscreened	-	3309_16:21210156-21210156 A>C_HRRATGATEAEKRTVSLPGPILLLS
12:7640083-7640083 C>T	0.0	3309	MELANOMA	-	-	-	-	CD163	ENST00000432237,p.G641E|uc001qta.3,p.G641E|uc001qsz.3,p.G641E|ENST00000541972,p.G629E|uc009zfw.2,p.G674E|ENST00000359156,p.G641E|ENST00000396620,p.G674E|NM_004244,p.G641E|NM_203416,p.G641E	retained_intron, protein_coding, processed_transcript	uc009zfw.2	nonsynonymous SNV	exon7	c.G2021A	p.G674E	ALSTPGGARFGKGNGQIWRHMFHCT	ALSTPGGARFGKENGQIWRHMFHCT	1.0	8.0	unscreened	-	3309_12:7640083-7640083 C>T_ALSTPGGARFGKENGQIWRHMFHCT
5:156590290-156590290 G>A	0.0	3309	MELANOMA	-	-	-	-	FAM71B	ENST00000302938,p.S329F|NM_130899,p.S329F|uc003lwn.3,p.S329F	protein_coding	uc003lwn.3	nonsynonymous SNV	exon2	c.C986T	p.S329F	AIKNPGENESSKSMAGAANISSEGI	AIKNPGENESSKFMAGAANISSEGI	1.0	8.0	unscreened	-	3309_5:156590290-156590290 G>A_AIKNPGENESSKFMAGAANISSEGI
2:128482775-128482775 T>-	1.0	3309	MELANOMA	-	-	-	-	WDR33	NM_018383,p.N289fs|ENST00000322313,p.N289fs|uc002tpg.2,p.N289fs	protein_coding	uc002tpg.2	frameshift deletion	exon9	c.866delA	p.N289fs	TGQSLATLHAHKNTVMEVKLNLNGN	TGQSLATLHAHKTQ	7.0	7.0	unscreened	-	3309_2:128482775-128482775 T>-_TGQSLATLHAHKTQ
1:24661190-24661190 G>A	0.0	3309	MELANOMA	-	-	ID=COSM140916;OCCURENCE=1(upper_aerodigestive_tract)	-	GRHL3	uc021oix.1,p.G41E|NM_001195010,p.G41E|NM_198173,p.G87E|ENST00000524724,p.G41E|NM_021180,p.G92E|ENST00000350501,p.G87E|uc001bix.3,p.G87E|ENST00000236255,p.G92E|NM_198174,p.G87E|ENST00000361548,p.G87E|uc021oiw.1,p.G87E|uc001biy.3,p.G92E|ENST00000356046,p.G41E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021oix.1	nonsynonymous SNV	exon3	c.G122A	p.G41E	ILSSSTGGRNDQGKRYYHGMEYETD	ILSSSTGGRNDQEKRYYHGMEYETD	1.0	5.0	unscreened	-	3309_1:24661190-24661190 G>A_ILSSSTGGRNDQEKRYYHGMEYETD
6:117710530-117710530 G>A	0.0	3309	MELANOMA	-	-	-	1	ROS1	ENST00000368507,p.A590V	protein_coding	ENST00000368507	nonsynonymous SNV	exon13	c.C1769T	p.A590V	GSHQALVQWKPPALAIGASPSAWQN	GSHQALVQWKPPVLAIGASPSAWQN	1.0	3.0	unscreened	-	3309_6:117710530-117710530 G>A_GSHQALVQWKPPVLAIGASPSAWQN
1:55452034-55452034 C>T	0.0	3309	MELANOMA	-	-	-	-	TMEM61	NM_182532,p.P94S|uc001cyd.3,p.P94S|ENST00000371268,p.P94S	protein_coding	uc001cyd.3	nonsynonymous SNV	exon2	c.C280T	p.P94S	LIGLLWSVKASIPGPPRWDPYHLSR	LIGLLWSVKASISGPPRWDPYHLSR	1.0	6.0	unscreened	-	3309_1:55452034-55452034 C>T_LIGLLWSVKASISGPPRWDPYHLSR
18:8831747-8831747 C>T	1.0	3309	MELANOMA	-	-	-	-	MTCL1	uc002kns.2,p.S962F|ENST00000306285,p.S947F|ENST00000518815,p.S947F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kns.2	nonsynonymous SNV	exon10	c.C2885T	p.S962F	TASQPQSPGDPTSLEEHGGEEPPEE	TASQPQSPGDPTFLEEHGGEEPPEE	7.0	4.0	unscreened	-	3309_18:8831747-8831747 C>T_TASQPQSPGDPTFLEEHGGEEPPEE
9:119033623-119033623 G>A	0.0	3309	MELANOMA	-	-	ID=COSM1219256;OCCURENCE=1(large_intestine)	-	PAPPA	uc011lxq.2,p.D336N|NM_002581,p.D961N|uc011lxp.1,p.D656N|uc004bjn.3,p.D961N|ENST00000328252,p.D961N	protein_coding, processed_transcript	uc011lxq.2	nonsynonymous SNV	exon3	c.G1006A	p.D336N	DGIIQKDQGEQCDDMNKINGDGCSL	DGIIQKDQGEQCNDMNKINGDGCSL	3.0	2.0	unscreened	-	3309_9:119033623-119033623 G>A_DGIIQKDQGEQCNDMNKINGDGCSL
6:45922969-45922969 C>T	0.0	3309	MELANOMA	-	-	-	-	CLIC5	NM_016929,p.G26R|ENST00000339561,p.G26R|NM_001256023,p.G26R|uc003oxu.4,p.G26R|ENST00000544153,p.G26R|uc003oxx.4,p.G26R	protein_coding, processed_transcript	uc003oxx.4	nonsynonymous SNV	exon2	c.G76A	p.G26R	PEIELFVKAGIDGESIGNCPFSQRL	PEIELFVKAGIDRESIGNCPFSQRL	1.0	8.0	unscreened	-	3309_6:45922969-45922969 C>T_PEIELFVKAGIDRESIGNCPFSQRL
6:45922969-45922969 C>T	0.0	3309	MELANOMA	-	-	-	-	CLIC5	NM_001114086,p.G185R|ENST00000185206,p.G185R|uc003oxv.3,p.G185R	protein_coding, processed_transcript	uc003oxv.3	nonsynonymous SNV	exon2	c.G553A	p.G185R	PEIYLFVKAGIDGESIGNCPFSQRL	PEIYLFVKAGIDRESIGNCPFSQRL	1.0	8.0	unscreened	-	3309_6:45922969-45922969 C>T_PEIYLFVKAGIDRESIGNCPFSQRL
3:39229856-39229856 C>T	0.0	3309	MELANOMA	0	-	ID=COSM1044494;OCCURENCE=1(endometrium)	-	XIRP1	uc021wvz.1,p.E361K|NM_194293,p.E361K|uc003cji.3,p.E361K|ENST00000340369,p.E361K|NM_001198621,p.E361K|uc003cjk.2,p.E361K|ENST00000396251,p.E361K	protein_coding	uc021wvz.1	nonsynonymous SNV	exon1	c.G1081A	p.E361K	FETRALDTLKGDEEAGAEAPPKEEV	FETRALDTLKGDKEAGAEAPPKEEV	1.0	7.0	unscreened	-	3309_3:39229856-39229856 C>T_FETRALDTLKGDKEAGAEAPPKEEV
14:96887262-96887262 G>A	0.0	3309	MELANOMA	-	-	-	-	AK7	uc001yfn.3,p.G201E|NM_152327,p.G201E|ENST00000267584,p.G201E	retained_intron, protein_coding, processed_transcript	uc001yfn.3	nonsynonymous SNV	exon5	c.G602A	p.G201E	DHINAEKMVLKFGKKARKFAAYVVA	DHINAEKMVLKFEKKARKFAAYVVA	5.0	7.0	unscreened	-	3309_14:96887262-96887262 G>A_DHINAEKMVLKFEKKARKFAAYVVA
7:143884857-143884857 C>T	0.0	3309	MELANOMA	-	-	-	-	ARHGEF35	uc022aog.1,p.G207E|uc003wdz.2,p.G207E|ENST00000543357,p.G207E|NM_001003702,p.G207E|ENST00000378115,p.G207E	protein_coding	uc022aog.1	nonsynonymous SNV	exon1	c.G620A	p.G207E	QNEGAESGTIRQGEELPSEELQESQ	QNEGAESGTIRQEEELPSEELQESQ	4.0	8.0	unscreened	-	3309_7:143884857-143884857 C>T_QNEGAESGTIRQEEELPSEELQESQ
18:61602367-61602367 G>A	0.0	3309	MELANOMA	-	-	ID=COSM989536;OCCURENCE=1(endometrium)	-	SERPINB10	uc010xew.2,p.R362Q|ENST00000238508,p.R362Q|NM_005024,p.R362Q|uc010xev.2,p.R362Q	protein_coding	uc010xew.2	nonsynonymous SNV	exon7	c.G1085A	p.R362Q	EAAAGSGSEIDIRIRVPSIEFNANH	EAAAGSGSEIDIQIRVPSIEFNANH	1.0	5.0	unscreened	-	3309_18:61602367-61602367 G>A_EAAAGSGSEIDIQIRVPSIEFNANH
12:55795007-55795007 G>A	0.0	3309	MELANOMA	-	-	-	-	OR6C65	ENST00000379665,p.R232K|uc010spl.2,p.R232K|NM_001005518,p.R232K	protein_coding	uc010spl.2	nonsynonymous SNV	exon1	c.G695A	p.R232K	LKTILKIPSAQQRKKAFSTCSSHMI	LKTILKIPSAQQKKKAFSTCSSHMI	1.0	4.0	unscreened	-	3309_12:55795007-55795007 G>A_LKTILKIPSAQQKKKAFSTCSSHMI
1:196398757-196398757 G>A	0.0	3309	MELANOMA	-	-	-	-	KCNT2	NM_198503,p.L257F|NM_001287819,p.L257F|uc001gte.1,p.L257F|uc009wyv.1,p.L232F|uc001gtd.1,p.L257F|ENST00000367433,p.L257F|uc001gtf.1,p.L257F|ENST00000367431,p.L257F|ENST00000294725,p.L257F|uc009wyu.3,p.L257F|NM_001287820,p.L257F	protein_coding, processed_transcript	uc009wyv.1	nonsynonymous SNV	exon8	c.C694T	p.L232F	FGDVTPETWSSKLFVVAMICVALVV	FGDVTPETWSSKFFVVAMICVALVV	1.0	4.0	unscreened	-	3309_1:196398757-196398757 G>A_FGDVTPETWSSKFFVVAMICVALVV
6:117710530-117710530 G>A	0.0	3309	MELANOMA	-	-	-	1	ROS1	uc003pxp.1,p.A581V|ENST00000368508,p.A581V|NM_002944,p.A581V	protein_coding	uc003pxp.1	nonsynonymous SNV	exon12	c.C1742T	p.A581V	GSHQALVQWKPPALAIGANVILISD	GSHQALVQWKPPVLAIGANVILISD	1.0	3.0	unscreened	-	3309_6:117710530-117710530 G>A_GSHQALVQWKPPVLAIGANVILISD
3:193036812-193036812 C>T	0.0	3309	MELANOMA	-	-	-	-	ATP13A5	uc011bsq.2,p.M667I|NM_198505,p.M667I|ENST00000342358,p.M667I	retained_intron, protein_coding, processed_transcript	uc011bsq.2	nonsynonymous SNV	exon17	c.G2001A	p.M667I	FRVIALAHKTLKMGNLSEVEHLARE	FRVIALAHKTLKIGNLSEVEHLARE	1.0	7.0	unscreened	-	3309_3:193036812-193036812 C>T_FRVIALAHKTLKIGNLSEVEHLARE
1:166925987-166925987 A>C	0.0	3309	MELANOMA	-	-	-	-	ILDR2	ENST00000525740,p.V161G	protein_coding	ENST00000525740	nonsynonymous SNV	exon3	c.T482G	p.V161G	TPDDLEGKNEDSVELLVLVRKGYRI	TPDDLEGKNEDSGELLVLVRKGYRI	1.0	7.0	unscreened	-	3309_1:166925987-166925987 A>C_TPDDLEGKNEDSGELLVLVRKGYRI
6:129475668-129475668 A>G	0.0	3309	MELANOMA	-	-	-	-	LAMA2	NM_001079823,p.K349R|uc003qbo.3,p.K349R|uc003qbn.3,p.K349R|uc021zfb.1,p.K349R|NM_000426,p.K349R|ENST00000421865,p.K349R	protein_coding, processed_transcript	uc021zfb.1	nonsynonymous SNV	exon8	c.A1046G	p.K349R	TKTECEACNCHGKAEECYYDENVAR	TKTECEACNCHGRAEECYYDENVAR	1.0	5.0	unscreened	-	3309_6:129475668-129475668 A>G_TKTECEACNCHGRAEECYYDENVAR
20:51872921-51872921 C>T	0.0	3309	MELANOMA	-	-	-	-	TSHZ2	ENST00000605656,p.S135L|NM_173485,p.S975L|NM_001193421,p.S972L|uc002xwo.3,p.S975L|ENST00000371497,p.S975L|ENST00000603338,p.S972L|uc021wex.1,p.S972L|ENST00000329613,p.S972L	protein_coding, processed_transcript	uc021wex.1	nonsynonymous SNV	exon2	c.C2915T	p.S972L	QQSKVEQEISRVSSAQRSPETIAAE	QQSKVEQEISRVLSAQRSPETIAAE	3.0	3.0	unscreened	-	3309_20:51872921-51872921 C>T_QQSKVEQEISRVLSAQRSPETIAAE
12:11083347-11083347 G>A	0.0	3309	MELANOMA	-	-	-	-	PRH2	uc001qzh.3,p.G63R|NM_001110213,p.G63R|NM_005042,p.G63R|uc001qzi.4,p.G63R|ENST00000381847,p.G63R|uc009zhr.3,p.G63R|ENST00000396400,p.G63R	protein_coding	uc009zhr.3	nonsynonymous SNV	exon3	c.G187A	p.G63R	LGGQQSQPSAGDGNQNDGPQQGPPQ	LGGQQSQPSAGDRNQNDGPQQGPPQ	1.0	8.0	unscreened	-	3309_12:11083347-11083347 G>A_LGGQQSQPSAGDRNQNDGPQQGPPQ
12:7459256-7459256 G>A	0.0	3309	MELANOMA	-	-	-	-	ACSM4	ENST00000399422,p.G110D|NM_001080454,p.G110D|uc001qsx.1,p.G110D	retained_intron, protein_coding	uc001qsx.1	nonsynonymous SNV	exon2	c.G329A	p.G110D	SRKAANVLTKPCGLQRGDRLAVILP	SRKAANVLTKPCDLQRGDRLAVILP	1.0	4.0	unscreened	-	3309_12:7459256-7459256 G>A_SRKAANVLTKPCDLQRGDRLAVILP
1:166925987-166925987 A>C	0.0	3309	MELANOMA	-	-	-	-	ILDR2	ENST00000526687,p.V161G|ENST00000528703,p.V161G|uc001gdx.2,p.V161G|ENST00000271417,p.V161G|NM_199351,p.V161G|ENST00000469934,p.V161G	protein_coding	uc001gdx.2	nonsynonymous SNV	exon3	c.T482G	p.V161G	TPDDLEGKNEDSVELLVLGRTGLLA	TPDDLEGKNEDSGELLVLGRTGLLA	1.0	7.0	unscreened	-	3309_1:166925987-166925987 A>C_TPDDLEGKNEDSGELLVLGRTGLLA
11:76751226-76751226 C>G	0.0	3309	MELANOMA	-	-	-	-	B3GNT6	uc021qnq.1,p.R211G|ENST00000421061,p.R122G|uc021qnp.1,p.R211G|ENST00000533140,p.R211G|ENST00000354301,p.R211G	protein_coding	uc021qnq.1	nonsynonymous SNV	exon1	c.C631G	p.R211G	LKHLHLLDWLAARCPHARFLLSGDD	LKHLHLLDWLAAGCPHARFLLSGDD	1.0	5.0	unscreened	-	3309_11:76751226-76751226 C>G_LKHLHLLDWLAAGCPHARFLLSGDD
13:46170942-46170942 C>T	0.0	3309	MELANOMA	-	-	-	-	ERICH6B	NM_182542,p.D67N|uc001vam.1,p.D67N|uc001val.2,p.D67N|ENST00000298738,p.D67N	retained_intron, protein_coding, processed_transcript	uc001vam.1	nonsynonymous SNV	exon2	c.G199A	p.D67N	SLEDKEYLEEEEDLEEEEYLGKEEY	SLEDKEYLEEEENLEEEEYLGKEEY	3.0	3.0	unscreened	-	3309_13:46170942-46170942 C>T_SLEDKEYLEEEENLEEEEYLGKEEY
22:26422854-26422854 T>C	0.0	3309	MELANOMA	-	-	-	-	MYO18B	uc010guy.1,p.V2187A|NM_032608,p.V2305A|uc003abz.1,p.V2305A|uc011aka.1,p.V1459A|uc010gva.1,p.V288A|uc010guz.1,p.V2185A|ENST00000335473,p.V2305A|uc011akb.1,p.V1818A|uc003aca.1,p.V2186A|ENST00000536101,p.V2305A|ENST00000407587,p.V2306A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011akb.1	nonsynonymous SNV	exon39	c.T5453C	p.V1818A	RAGSDEGNLSLRVGAKSPLEIEGAA	RAGSDEGNLSLRAGAKSPLEIEGAA	1.0	5.0	unscreened	-	3309_22:26422854-26422854 T>C_RAGSDEGNLSLRAGAKSPLEIEGAA
20:49203815-49203815 C>T	0.0	3309	MELANOMA	-	-	-	-	FAM65C	ENST00000535356,p.R936K|NM_080829,p.R932K|uc010zyt.2,p.R936K|NM_001290268,p.R936K|uc002xvm.3,p.R932K|ENST00000045083,p.R932K|ENST00000327979,p.R932K	retained_intron, protein_coding, processed_transcript	uc010zyt.2	nonsynonymous SNV	exon22	c.G2807A	p.R936K	AFEKMDKLCSEQREVFCQEADVEIT	AFEKMDKLCSEQKEVFCQEADVEIT	1.0	6.0	unscreened	-	3309_20:49203815-49203815 C>T_AFEKMDKLCSEQKEVFCQEADVEIT
2:130833010-130833010 C>T	0.0	3309	MELANOMA	-	-	-	-	POTEF	NM_001099771,p.D679N|ENST00000357462,p.D679N|uc010fmh.2,p.D679N|ENST00000409914,p.D679N	protein_coding	uc010fmh.2	nonsynonymous SNV	exon17	c.G2035A	p.D679N	HQSQLREKKYLEDIESVKKRNDNLL	HQSQLREKKYLENIESVKKRNDNLL	3.0	6.0	unscreened	-	3309_2:130833010-130833010 C>T_HQSQLREKKYLENIESVKKRNDNLL
1:166925987-166925987 A>C	0.0	3309	MELANOMA	-	-	-	-	ILDR2	ENST00000529071,p.V161G	protein_coding	ENST00000529071	nonsynonymous SNV	exon3	c.T482G	p.V161G	TPDDLEGKNEDSVELLVLEWVFVGL	TPDDLEGKNEDSGELLVLEWVFVGL	1.0	7.0	unscreened	-	3309_1:166925987-166925987 A>C_TPDDLEGKNEDSGELLVLEWVFVGL
12:55355015-55355015 G>A	0.0	3309	MELANOMA	-	-	-	-	TESPA1	ENST00000316577,p.R502C|NM_014796,p.R364C|uc001sgm.4,p.R249C|NM_001261844,p.R364C|ENST00000531122,p.R364C|ENST00000524622,p.R364C|uc010spd.2,p.R502C|ENST00000532804,p.R364C|ENST00000449076,p.R502C|uc001sgn.4,p.R502C|uc010spb.2,p.R249C|NM_001136030,p.R502C|NM_001098815,p.R502C|uc001sgl.4,p.R364C|uc010spc.2,p.R364C	protein_coding, processed_transcript, nonsense_mediated_decay	uc010spd.2	nonsynonymous SNV	exon10	c.C1504T	p.R502C	VQSNSEEEQSQSRWPSRPRHPHHHQ	VQSNSEEEQSQSCWPSRPRHPHHHQ	1.0	7.0	unscreened	-	3309_12:55355015-55355015 G>A_VQSNSEEEQSQSCWPSRPRHPHHHQ
2:210658526-210658526 C>T	0.0	3309	MELANOMA	-	-	-	-	UNC80	NM_032504,p.S294F|ENST00000439458,p.S294F|NM_182587,p.S294F|uc010zjc.1,p.S294F|ENST00000272845,p.S294F|uc021vvx.1,p.S294F|uc002vdj.1,p.S294F	retained_intron, protein_coding, processed_transcript	uc021vvx.1	nonsynonymous SNV	exon7	c.C881T	p.S294F	PKATISGCHRGNSFDGSLSSQTSQE	PKATISGCHRGNFFDGSLSSQTSQE	4.0	4.0	unscreened	-	3309_2:210658526-210658526 C>T_PKATISGCHRGNFFDGSLSSQTSQE
18:44560998-44560998 C>T	0.0	3309	MELANOMA	-	-	-	-	TCEB3B	uc002lcr.1,p.G213D|NM_016427,p.G213D|ENST00000332567,p.G213D	protein_coding	uc002lcr.1	nonsynonymous SNV	exon1	c.G638A	p.G213D	AQGGPLLCPGCQGQPQGKAVVSHSK	AQGGPLLCPGCQDQPQGKAVVSHSK	1.0	3.0	unscreened	-	3309_18:44560998-44560998 C>T_AQGGPLLCPGCQDQPQGKAVVSHSK
3:99513329-99513329 C>T	0.0	3309	MELANOMA	-	-	-	-	COL8A1	ENST00000261037,p.P195L|ENST00000273342,p.P195L|NM_020351,p.P195L|uc003dth.2,p.P195L|NM_001850,p.P195L|uc003dtg.2,p.P195L|uc003dti.1,p.P196L	protein_coding, processed_transcript	uc003dti.1	nonsynonymous SNV	exon3	c.C587T	p.P196L	QKGEIGPMGIPGPQGPPGPHGLPGI	QKGEIGPMGIPGLQGPPGPHGLPGI	1.0	7.0	unscreened	-	3309_3:99513329-99513329 C>T_QKGEIGPMGIPGLQGPPGPHGLPGI
2:99907879-99907879 G>A	0.0	3309	MELANOMA	-	-	-	-	LYG1	ENST00000308528,p.R52C|ENST00000409448,p.R52C|uc010yvo.2,p.R52C|NM_174898,p.R52C|uc002szy.3,p.R52C	protein_coding	uc010yvo.2	nonsynonymous SNV	exon6	c.C154T	p.R52C	IGRRHGLNYCGVRASERLAEIDMPY	IGRRHGLNYCGVCASERLAEIDMPY	3.0	6.0	unscreened	-	3309_2:99907879-99907879 G>A_IGRRHGLNYCGVCASERLAEIDMPY
11:130103256-130103256 G>A	0.0	3309	MELANOMA	-	-	-	-	ZBTB44	uc001qga.3,p.P570S|NM_001301098,p.P570S|ENST00000397753,p.P570S|ENST00000357899,p.P570S	retained_intron, protein_coding, nonsense_mediated_decay	uc001qga.3	nonsynonymous SNV	exon7	c.C1708T	p.P570S	PVISQYHSKGKEP	PVISQYHSKGKES	6.0	2.0	unscreened	-	3309_11:130103256-130103256 G>A_PVISQYHSKGKES
15:75586721-75586721 G>A	0.0	3309	MELANOMA	-	-	-	-	GOLGA6D	ENST00000434739,p.E663K|uc010uma.2,p.E663K|NM_001145224,p.E663K	protein_coding	uc010uma.2	nonsynonymous SNV	exon18	c.G1987A	p.E663K	DVFYEVSLDNNVEPAPGVAREGSPH	DVFYEVSLDNNVKPAPGVAREGSPH	1.0	5.0	unscreened	-	3309_15:75586721-75586721 G>A_DVFYEVSLDNNVKPAPGVAREGSPH
17:12642587-12642587 C>T	0.0	3309	MELANOMA	-	-	-	-	MYOCD	ENST00000425538,p.A220V|ENST00000343344,p.A220V|uc002gnn.2,p.A220V|NM_153604,p.A220V|uc002gno.2,p.A220V|ENST00000395988,p.A124V|NM_001146312,p.A220V|uc002gnp.1,p.A124V	protein_coding, nonsense_mediated_decay	uc002gnp.1	nonsynonymous SNV	exon4	c.C371T	p.A124V	NDSASQPSHQSDAGKQGLGPPSTPI	NDSASQPSHQSDVGKQGLGPPSTPI	1.0	4.0	unscreened	-	3309_17:12642587-12642587 C>T_NDSASQPSHQSDVGKQGLGPPSTPI
22:39219170-39219170 C>T	0.0	3309	MELANOMA	-	-	-	-	NPTXR	ENST00000333039,p.G399E|uc003awk.3,p.G399E|NM_014293,p.G399E	protein_coding	uc003awk.3	nonsynonymous SNV	exon4	c.G1196A	p.G399E	TTRDGLWSAYQDGELQGSGENLAAW	TTRDGLWSAYQDEELQGSGENLAAW	4.0	6.0	unscreened	-	3309_22:39219170-39219170 C>T_TTRDGLWSAYQDEELQGSGENLAAW
2:141083370-141083370 C>T	0.0	3309	MELANOMA	-	-	-	1	LRP1B	ENST00000389484,p.D4101N|NM_018557,p.D4101N|uc002tvj.1,p.D4101N	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon80	c.G12301A	p.D4101N	DFELSIIGSVLYDGSNSVVSVSSKQ	DFELSIIGSVLYNGSNSVVSVSSKQ	1.0	5.0	unscreened	-	3309_2:141083370-141083370 C>T_DFELSIIGSVLYNGSNSVVSVSSKQ
17:37947831-37947831 G>A	0.0	3309	MELANOMA	-	-	-	-	IKZF3	ENST00000535189,p.R110C|ENST00000350532,p.R144C|uc002hsu.4,p.R144C|ENST00000351680,p.R144C|NM_001257408,p.R110C|ENST00000346243,p.R144C|NM_001257409,p.R110C|uc002hsw.4,p.R144C|uc002hsv.4,p.R110C|NM_183232,p.R144C|NM_183230,p.R144C|uc002hta.4,p.R144C|NM_012481,p.R144C|ENST00000293068,p.R144C|ENST00000439167,p.R110C|ENST00000346872,p.R144C|uc002hsy.4,p.R144C|NM_183229,p.R144C|uc002htd.4,p.R110C	protein_coding, nonsense_mediated_decay	uc002htd.4	nonsynonymous SNV	exon4	c.C328T	p.R110C	VLMVHKRSHTGERPFQCNQCGASFT	VLMVHKRSHTGECPFQCNQCGASFT	1.0	6.0	unscreened	-	3309_17:37947831-37947831 G>A_VLMVHKRSHTGECPFQCNQCGASFT
15:85383897-85383897 C>T	0.0	3309	MELANOMA	-	-	-	-	ALPK3	ENST00000258888,p.P665S|NM_020778,p.P665S|uc002ble.3,p.P665S	retained_intron, protein_coding	uc002ble.3	nonsynonymous SNV	exon5	c.C1993T	p.P665S	PLRARSEGVPGAPGQPTHSLTPQPT	PLRARSEGVPGASGQPTHSLTPQPT	2.0	6.0	unscreened	-	3309_15:85383897-85383897 C>T_PLRARSEGVPGASGQPTHSLTPQPT
17:39620679-39620679 C>T	0.0	3309	MELANOMA	-	-	-	-	KRT32	NM_002278,p.R242Q|uc002hwr.3,p.R242Q|ENST00000225899,p.R242Q	protein_coding	uc002hwr.3	nonsynonymous SNV	exon4	c.G725A	p.R242Q	LKKNHEEEVGSLRCQLGDRLNIEVD	LKKNHEEEVGSLQCQLGDRLNIEVD	1.0	6.0	unscreened	-	3309_17:39620679-39620679 C>T_LKKNHEEEVGSLQCQLGDRLNIEVD
9:84609134-84609134 G>A	0.0	3309	MELANOMA	-	-	-	-	SPATA31D1	uc004amn.3,p.G1250E|NM_001001670,p.G1250E|ENST00000344803,p.G1250E	protein_coding	uc004amn.3	nonsynonymous SNV	exon4	c.G3749A	p.G1250E	LTNSQGISSGDMGTSQVVHVHLEDS	LTNSQGISSGDMETSQVVHVHLEDS	1.0	5.0	unscreened	-	3309_9:84609134-84609134 G>A_LTNSQGISSGDMETSQVVHVHLEDS
3:38622519-38622519 G>A	0.0	3309	MELANOMA	-	-	-	-	SCN5A	NM_001099404,p.P1044L|uc021wvw.1,p.P655L|ENST00000450102,p.P1044L|uc021wvq.1,p.P1044L|ENST00000443581,p.P1044L|NM_001099405,p.P1044L|uc021wvn.1,p.P1044L|uc021wvm.1,p.P1044L|ENST00000414099,p.P1044L|ENST00000333535,p.P1044L|ENST00000413689,p.P1044L|uc021wvj.1,p.P910L|uc021wvo.1,p.P1044L|ENST00000451551,p.P1044L|uc021wvk.1,p.P1044L|uc021wvs.1,p.P1044L|ENST00000425664,p.P1044L|uc021wvp.1,p.P1044L|uc021wvl.1,p.P1044L|uc021wvr.1,p.P1044L|NM_001160160,p.P1044L|uc021wvv.1,p.P1044L|NM_000335,p.P1044L|uc021wvt.1,p.P1044L|ENST00000423572,p.P1044L|uc021wvu.1,p.P1044L|NM_001160161,p.P1044L|uc021wvi.1,p.P910L|NM_198056,p.P1044L|ENST00000455624,p.P1044L|ENST00000449557,p.P1044L	retained_intron, protein_coding, processed_transcript	uc021wvw.1	nonsynonymous SNV	exon8	c.C1964T	p.P655L	EQPGQGTPGDPEPVCVPIAVAESDT	EQPGQGTPGDPELVCVPIAVAESDT	3.0	5.0	unscreened	-	3309_3:38622519-38622519 G>A_EQPGQGTPGDPELVCVPIAVAESDT
18:31319251-31319251 C>T	0.0	3309	MELANOMA	-	-	-	-	ASXL3	ENST00000269197,p.P628L|NM_030632,p.P628L|uc002kxq.2,p.P335L|uc010dmg.1,p.P628L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dmg.1	nonsynonymous SNV	exon11	c.C1883T	p.P628L	ESPEGACTSLPSPGGETQSTSEESC	ESPEGACTSLPSLGGETQSTSEESC	1.0	5.0	unscreened	-	3309_18:31319251-31319251 C>T_ESPEGACTSLPSLGGETQSTSEESC
12:7242201-7242201 C>T	1.0	3309	MELANOMA	-	-	-	-	C1R	uc010sfy.2,p.D185N|uc021quh.1,p.D74N|ENST00000536053,p.D199N|ENST00000535233,p.D151N|uc010sga.1,p.D151N|uc010sfz.1,p.D199N|ENST00000540610,p.D80N|ENST00000542220,p.D185N|ENST00000542285,p.D184N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021quh.1	nonsynonymous SNV	exon3	c.G220A	p.D74N	FCSCRPGYELQEDRHSCQAECSSEL	FCSCRPGYELQENRHSCQAECSSEL	4.0	6.0	unscreened	-	3309_12:7242201-7242201 C>T_FCSCRPGYELQENRHSCQAECSSEL
17:37947831-37947831 G>A	0.0	3309	MELANOMA	-	-	-	-	IKZF3	ENST00000377958,p.R57C|uc010cwh.4,p.R57C|NM_001257410,p.R57C	protein_coding, nonsense_mediated_decay	uc010cwh.4	nonsynonymous SNV	exon4	c.C169T	p.R57C	GPANEDEDIGGERPFQCNQCGASFT	GPANEDEDIGGECPFQCNQCGASFT	1.0	6.0	unscreened	-	3309_17:37947831-37947831 G>A_GPANEDEDIGGECPFQCNQCGASFT
2:227924301-227924301 C>T	0.0	3309	MELANOMA	-	-	-	-	COL4A4	NM_000092,p.E735K|ENST00000329662,p.E735K|ENST00000396625,p.E735K|uc021vxs.1,p.E735K|uc021vxr.1,p.E735K	protein_coding	uc021vxs.1	nonsynonymous SNV	exon28	c.G2203A	p.E735K	FRGDMGDPGFGGEKGSSPVGPPGPP	FRGDMGDPGFGGKKGSSPVGPPGPP	1.0	5.0	unscreened	-	3309_2:227924301-227924301 C>T_FRGDMGDPGFGGKKGSSPVGPPGPP
2:227964405-227964405 C>T	0.0	3309	MELANOMA	-	-	-	-	COL4A4	uc021vxr.1,p.G344R|NM_000092,p.G344R|ENST00000329662,p.G344R|uc021vxs.1,p.G344R|ENST00000396625,p.G344R	protein_coding	uc021vxs.1	nonsynonymous SNV	exon18	c.G1030A	p.G344R	GDPGLFGLIGPKGDPGNRGHPGPPG	GDPGLFGLIGPKRDPGNRGHPGPPG	1.0	5.0	unscreened	-	3309_2:227964405-227964405 C>T_GDPGLFGLIGPKRDPGNRGHPGPPG
10:119100554-119100554 A>T	1.0	3466	MELANOMA	-	-	-	-	PDZD8	uc001lde.1,p.I311N|ENST00000334464,p.I311N|NM_173791,p.I311N	protein_coding, processed_transcript	uc001lde.1	nonsynonymous SNV	exon2	c.T932A	p.I311N	QTLQGFEEDEEHIHIQQWALTEGRL	QTLQGFEEDEEHNHIQQWALTEGRL	9.0	5.0	CD8	-	3466_10:119100554-119100554 A>T_QTLQGFEEDEEHNHIQQWALTEGRL
11:12951870-12951870 A>T	1.0	3466	MELANOMA	-	-	-	-	TEAD1	ENST00000527575,p.L330F|ENST00000361985,p.L388F|ENST00000527636,p.L388F|ENST00000526600,p.L292F|ENST00000361905,p.L373F|NM_021961,p.L388F|uc009ygl.3,p.L209F|uc001mkk.4,p.L292F|ENST00000334310,p.L319F|uc021qdx.1,p.L388F	retained_intron, protein_coding	uc021qdx.1	nonsynonymous SNV	exon12	c.A1164T	p.L388F	YMMNSVLENFTILLVVTNRDTQETL	YMMNSVLENFTIFLVVTNRDTQETL	10.0	6.0	CD8	-	3466_11:12951870-12951870 A>T_YMMNSVLENFTIFLVVTNRDTQETL
21:46888426-46888426 C>T	1.0	3466	MELANOMA	-	-	-	-	COL18A1	uc002zhi.3,p.S306F|uc002zhg.3,p.S126F|ENST00000355480,p.S306F|ENST00000359759,p.S541F|NM_130445,p.S126F|NM_030582,p.S306F|ENST00000400337,p.S126F	retained_intron, protein_coding, processed_transcript	uc002zhi.3	nonsynonymous SNV	exon2	c.C917T	p.S306F	SAQAMVLLGVKLSGVQDGHQDISLL	SAQAMVLLGVKLFGVQDGHQDISLL	9.0	1.0	CD8	-	3466_21:46888426-46888426 C>T_SAQAMVLLGVKLFGVQDGHQDISLL
19:6415658-6415658 G>A	1.0	3466	MELANOMA	-	-	-	-	KHSRP	ENST00000398148,p.P592L|ENST00000594496,p.P13L|NM_003685,p.P592L|uc002mer.4,p.P592L	retained_intron, protein_coding	uc002mer.4	nonsynonymous SNV	exon17	c.C1775T	p.P592L	YSHYYQQPPGPVPGPAPAPAAPPAQ	YSHYYQQPPGPVLGPAPAPAAPPAQ	10.0	2.0	CD8	-	3466_19:6415658-6415658 G>A_YSHYYQQPPGPVLGPAPAPAAPPAQ
17:37872096-37872096 C>T	1.0	3466	MELANOMA	-	-	-	1	ERBB2	ENST00000584450,p.H473Y|NM_001289938,p.H443Y|ENST00000578199,p.H443Y|NM_001005862,p.H443Y|uc002hsl.3,p.H443Y|uc002hso.3,p.H473Y|uc010cwb.3,p.H473Y|uc010cwa.3,p.H458Y|ENST00000540147,p.H443Y|ENST00000541774,p.H458Y|NM_004448,p.H473Y|ENST00000445658,p.H197Y|ENST00000584601,p.H443Y|ENST00000269571,p.H473Y|uc002hsp.3,p.H276Y|uc010wek.2,p.H197Y|ENST00000540042,p.H443Y|ENST00000406381,p.H443Y|NM_001289936,p.H458Y|NM_001289937,p.H473Y|uc002hsm.3,p.H443Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wek.2	nonsynonymous SNV	exon6	c.C589T	p.H197Y	LGSGLALIHHNTHLCFVHTVPWDQL	LGSGLALIHHNTYLCFVHTVPWDQL	6.0	9.0	CD8	-	3466_17:37872096-37872096 C>T_LGSGLALIHHNTYLCFVHTVPWDQL
19:50390802-50390802 C>T	1.0	3466	MELANOMA	-	-	-	-	TBC1D17	uc002pqp.3,p.P156L|NM_024682,p.P505L|NM_001168222,p.P472L|ENST00000594984,p.P284L|uc002pqo.3,p.P505L|uc010ybg.2,p.P472L|ENST00000221543,p.P505L|ENST00000535102,p.P472L|uc002pqr.3,p.P156L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ybg.2	nonsynonymous SNV	exon13	c.C1415T	p.P472L	FRWLLIWFKREFPFPDVLRLWEVLW	FRWLLIWFKREFLFPDVLRLWEVLW	7.0	1.0	-	-	3466_19:50390802-50390802 C>T_FRWLLIWFKREFLFPDVLRLWEVLW
12:53415621-53415621 T>-	1.0	3466	MELANOMA	-	-	-	-	EIF4B	ENST00000416762,p.V131fs|uc010snv.2,p.V131fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010snv.2	frameshift deletion	exon4	c.392delT	p.V131fs	LNSLGNRRIRVDVADQAQDKDRDDR	LNSLGNRRIRVDVLIKHRIKTGMIVLLAVIEIGILTKQIQTGGLVLLQTALMTTHLEEVMIALETSIEIVMIQTGIGMGIGMGIGMAHAGIWIDMVAGIAMMTEAAETMIEAMIPG	10.0	9.0	unscreened	-	3466_12:53415621-53415621 T>-_LNSLGNRRIRVDVLIKHRIKTGMIVLLAVIEIGILTKQIQTGGLVLLQTALMTTHLEEVMIALETSIEIVMIQTGIGMGIGMGIGMAHAGIWIDMVAGIAMMTEAAETMIEAMIPG
12:53415621-53415621 T>-	1.0	3466	MELANOMA	-	-	-	-	EIF4B	NM_001417,p.V170fs|ENST00000420463,p.V170fs|ENST00000262056,p.V170fs|uc010snu.2,p.V170fs|uc001sbh.4,p.V170fs|NM_001300821,p.V170fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010snu.2	frameshift deletion	exon5	c.509delT	p.V170fs	EESLGNRRIRVDVADQAQDKDRDDR	EESLGNRRIRVDVLIKHRIKTGMIVLLAVIEIGILTKQIQTGGLVLLQTALMTTHLEEVMIALETSIEIVMIQTGIGMGIGMGIGMAHAGIWIDMVAGIAMMTEAAETMIEAMIPG	10.0	9.0	unscreened	-	3466_12:53415621-53415621 T>-_EESLGNRRIRVDVLIKHRIKTGMIVLLAVIEIGILTKQIQTGGLVLLQTALMTTHLEEVMIALETSIEIVMIQTGIGMGIGMGIGMAHAGIWIDMVAGIAMMTEAAETMIEAMIPG
13:23910931-23910931 G>A	1.0	3466	MELANOMA	-	-	-	-	SACS	ENST00000402364,p.H1612Y|ENST00000382292,p.H2362Y|uc001uon.3,p.H2362Y|ENST00000382298,p.H2362Y|uc001uoo.3,p.H2215Y|NM_014363,p.H2362Y|NM_001278055,p.H2215Y	protein_coding, processed_transcript	uc001uoo.3	nonsynonymous SNV	exon8	c.C6643T	p.H2215Y	ENAYVDSEKVSFHLNFEAAPYLYQL	ENAYVDSEKVSFYLNFEAAPYLYQL	8.0	9.0	-	-	3466_13:23910931-23910931 G>A_ENAYVDSEKVSFYLNFEAAPYLYQL
12:53415621-53415621 T>-	1.0	3466	MELANOMA	-	-	-	-	EIF4B	ENST00000552490,p.V170fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000552490	frameshift deletion	exon5	c.509delT	p.V170fs	EESLGNRRIRVDVADQAQDKDRDDR	EESLGNRRIRVDVLIKHRIKTGMIVLLAVIEIGILTKQIQTGGLVLLQTALMTTHLEEVMIALETAMIPG	10.0	9.0	unscreened	-	3466_12:53415621-53415621 T>-_EESLGNRRIRVDVLIKHRIKTGMIVLLAVIEIGILTKQIQTGGLVLLQTALMTTHLEEVMIALETAMIPG
7:22186585-22186585 C>T	1.0	3466	MELANOMA	-	-	-	-	RAPGEF5	ENST00000401957,p.G343E|uc003svg.3,p.G493E|uc011jyl.1,p.G174E|NM_012294,p.G493E|ENST00000344041,p.G493E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011jyl.1	nonsynonymous SNV	exon7	c.G521A	p.G174E	NEESQQRSMRILGMNTWDLALELMN	NEESQQRSMRILEMNTWDLALELMN	9.0	9.0	unscreened	-	3466_7:22186585-22186585 C>T_NEESQQRSMRILEMNTWDLALELMN
2:18112823-18112823 C>T	1.0	3466	MELANOMA	-	-	-	-	KCNS3	ENST00000403915,p.S183F|NM_001282428,p.S183F|uc002rcv.3,p.S183F|NM_002252,p.S183F|ENST00000304101,p.S183F|uc021veh.1,p.S183F|uc002rcw.3,p.S183F	protein_coding, processed_transcript	uc021veh.1	nonsynonymous SNV	exon1	c.C548T	p.S183F	IWIRMENPAYCLSAKLIAISSLSVV	IWIRMENPAYCLFAKLIAISSLSVV	10.0	7.0	-	-	3466_2:18112823-18112823 C>T_IWIRMENPAYCLFAKLIAISSLSVV
2:131099447-131099447 G>A	1.0	3466	MELANOMA	-	-	-	-	CCDC115	NM_032357,p.S61F|ENST00000437688,p.S56F|ENST00000442217,p.S61F|uc010zaf.1,p.S56F|uc002tqy.1,p.S61F|ENST00000409127,p.S56F|ENST00000259229,p.S61F	retained_intron, protein_coding, nonsense_mediated_decay	uc010zaf.1	nonsynonymous SNV	exon2	c.C167T	p.S56F	MGAKSVGPLQYASHMEPQVCLHASE	MGAKSVGPLQYAFHMEPQVCLHASE	7.0	6.0	-	-	3466_2:131099447-131099447 G>A_MGAKSVGPLQYAFHMEPQVCLHASE
22:24217314-24217314 C>T	1.0	3466	MELANOMA	-	-	-	-	SLC2A11	uc011ajd.1,p.L92F|uc011ajc.1,p.L105F|uc002zyn.4,p.L98F|uc002zyp.4,p.L101F|NM_001024939,p.L101F|ENST00000345044,p.L98F|NM_030807,p.L105F|NM_001282864,p.L105F|ENST00000405340,p.L98F|ENST00000405847,p.L98F|NM_001024938,p.L98F|ENST00000398356,p.L105F|uc002zym.4,p.L105F|ENST00000433835,p.L63F|uc002zyl.1,p.L105F|ENST00000316185,p.L101F	 processed_transcript,retained_intron, protein_coding, nonsense_mediated_decay	uc011ajd.1	nonsynonymous SNV	exon4	c.C274T	p.L92F	GPLAITLGRKKSLLVNNIFVVSAAI	GPLAITLGRKKSFLVNNIFVVSAAI	6.0	2.0	unscreened	-	3466_22:24217314-24217314 C>T_GPLAITLGRKKSFLVNNIFVVSAAI
4:185606598-185606598 C>T	1.0	3466	MELANOMA	-	-	-	-	PRIMPOL	uc003iwn.2,p.P118S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003iwn.2	nonsynonymous SNV	exon6	c.C352T	p.P118S	LETIEGFQCSPYPEVDHFVLSLVNK	LETIEGFQCSPYSEVDHFVLSLVNK	7.0	4.0	unscreened	-	3466_4:185606598-185606598 C>T_LETIEGFQCSPYSEVDHFVLSLVNK
4:185606598-185606598 C>T	1.0	3466	MELANOMA	-	-	-	-	PRIMPOL	ENST00000512834,p.P377S|uc003iwj.2,p.P377S|NM_001300768,p.P377S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003iwj.2	nonsynonymous SNV	exon10	c.C1129T	p.P377S	SETIEGFQCSPYPEVDHFVLSLVNK	SETIEGFQCSPYSEVDHFVLSLVNK	7.0	4.0	unscreened	-	3466_4:185606598-185606598 C>T_SETIEGFQCSPYSEVDHFVLSLVNK
4:185606598-185606598 C>T	1.0	3466	MELANOMA	-	-	-	-	PRIMPOL	ENST00000314970,p.P378S|NM_152683,p.P378S|ENST00000508001,p.P52S|ENST00000503752,p.P378S|ENST00000515774,p.P249S|uc003iwm.2,p.P249S|uc003iwk.2,p.P378S|NM_001300767,p.P249S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003iwm.2	nonsynonymous SNV	exon9	c.C745T	p.P249S	VETIEGFQCSPYPEVDHFVLSLVNK	VETIEGFQCSPYSEVDHFVLSLVNK	7.0	4.0	-	-	3466_4:185606598-185606598 C>T_VETIEGFQCSPYSEVDHFVLSLVNK
4:3189511-3189511 G>T	1.0	3466	MELANOMA	-	-	-	-	HTT	ENST00000355072,p.C1708F	retained_intron, protein_coding, processed_transcript	ENST00000355072	nonsynonymous SNV	exon39	c.G5123T	p.C1708F	IQELSFSPYLISCTVINRLRDGDST	IQELSFSPYLISFTVINRLRDGDST	9.0	9.0	-	-	3466_4:3189511-3189511 G>T_IQELSFSPYLISFTVINRLRDGDST
20:62520563-62520563 C>T	1.0	3466	MELANOMA	-	-	ID=COSM109590;OCCURENCE=2(skin),1(lung)	-	TPD52L2	uc002ygz.3,p.S180L|ENST00000358548,p.S160L|uc002ygy.3,p.S189L|uc002yha.3,p.S169L|uc002yhb.3,p.S160L|NM_199363,p.S160L|ENST00000351424,p.S169L|NM_199362,p.S180L|NM_199361,p.S169L|ENST00000217121,p.S189L|ENST00000352482,p.S180L|NM_199360,p.S189L	protein_coding, processed_transcript	uc002yhb.3	nonsynonymous SNV	exon6	c.C479T	p.S160L	SMPAMRNSATFKSFEDRVGTIKSKV	SMPAMRNSATFKLFEDRVGTIKSKV	10.0	3.0	unscreened	-	3466_20:62520563-62520563 C>T_SMPAMRNSATFKLFEDRVGTIKSKV
3:45160089-45160089 C>T	1.0	3466	MELANOMA	-	-	-	-	CDCP1	NM_022842,p.R36Q|uc003com.3,p.R36Q|ENST00000425231,p.R36Q|NM_178181,p.R36Q|uc003con.3,p.R36Q|ENST00000296129,p.R36Q	protein_coding, processed_transcript	uc003con.3	nonsynonymous SNV	exon2	c.G107A	p.R36Q	PRGAEAFEIALPRESNITVLIKLGT	PRGAEAFEIALPQESNITVLIKLGT	9.0	4.0	unscreened	-	3466_3:45160089-45160089 C>T_PRGAEAFEIALPQESNITVLIKLGT
12:67691552-67691552 C>T	1.0	3466	MELANOMA	-	-	-	-	CAND1	ENST00000540319,p.P140L|ENST00000545606,p.P258L|uc001stn.2,p.P258L|NM_018448,p.P258L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001stn.2	nonsynonymous SNV	exon6	c.C773T	p.P258L	GHRIGEYLEKIIPLVVKFCNVDDDE	GHRIGEYLEKIILLVVKFCNVDDDE	10.0	9.0	-	-	3466_12:67691552-67691552 C>T_GHRIGEYLEKIILLVVKFCNVDDDE
1:162740098-162740098 C>T	1.0	3466	MELANOMA	-	-	-	1	DDR2	uc001gcg.3,p.R434W|ENST00000367922,p.R434W|ENST00000367921,p.R434W|uc001gcf.3,p.R434W|NM_001014796,p.R434W|ENST00000458105,p.R44W|NM_006182,p.R434W	protein_coding	uc001gcg.3	nonsynonymous SNV	exon12	c.C1300T	p.R434W	RQFWQKMLEKASRRMLDDEMTVSLS	RQFWQKMLEKASWRMLDDEMTVSLS	8.0	2.0	unscreened	-	3466_1:162740098-162740098 C>T_RQFWQKMLEKASWRMLDDEMTVSLS
20:62520563-62520563 C>T	1.0	3466	MELANOMA	-	-	ID=COSM109590;OCCURENCE=2(skin),1(lung)	-	TPD52L2	uc011abl.2,p.S123L|uc021wgi.1,p.S141L|uc002yhd.3,p.S146L|ENST00000348257,p.S146L|uc002yhc.3,p.S166L|NM_003288,p.S166L|ENST00000346249,p.S166L|ENST00000369927,p.S123L|NM_199359,p.S146L|NM_001243892,p.S123L|NM_001243891,p.S141L|uc011abk.2,p.S117L	protein_coding, processed_transcript	uc021wgi.1	nonsynonymous SNV	exon6	c.C422T	p.S141L	KLGDMRNSATFKSFEDRVGTIKSKV	KLGDMRNSATFKLFEDRVGTIKSKV	10.0	3.0	-	-	3466_20:62520563-62520563 C>T_KLGDMRNSATFKLFEDRVGTIKSKV
7:5541352-5541352 G>A	1.0	3466	MELANOMA	-	-	-	-	FBXL18	ENST00000382368,p.P183L|uc003soo.2,p.P183L|ENST00000415009,p.P183L|uc003son.4,p.P183L|ENST00000453700,p.P183L|NM_024963,p.P183L	protein_coding, nonsense_mediated_decay	uc003soo.2	nonsynonymous SNV	exon3	c.C548T	p.P183L	SRVRELKQTLFTPSYGVVPCCTSLE	SRVRELKQTLFTLSYGVVPCCTSLE	6.0	9.0	unscreened	-	3466_7:5541352-5541352 G>A_SRVRELKQTLFTLSYGVVPCCTSLE
13:67800489-67800489 G>A	1.0	3466	MELANOMA	-	-	-	-	PCDH9	uc001vik.3,p.S695F|ENST00000456367,p.S695F|ENST00000377865,p.S695F|NM_203487,p.S695F|ENST00000544246,p.S695F|uc010thl.2,p.S695F|uc001vil.3,p.S695F|uc001vin.3,p.S695F|NM_020403,p.S695F|ENST00000377861,p.S695F|ENST00000328454,p.S695F	protein_coding	uc010thl.2	nonsynonymous SNV	exon2	c.C2084T	p.S695F	SFKLVPLSAIPGSVVAEVFAVDVDT	SFKLVPLSAIPGFVVAEVFAVDVDT	8.0	9.0	unscreened	-	3466_13:67800489-67800489 G>A_SFKLVPLSAIPGFVVAEVFAVDVDT
8:80915313-80915313 G>A	1.0	3466	MELANOMA	-	-	-	-	MRPS28	ENST00000520946,p.H44Y|NM_014018,p.H106Y|ENST00000276585,p.H106Y|uc003ybp.3,p.H106Y|ENST00000537855,p.H220Y|ENST00000521434,p.H44Y|ENST00000519120,p.H24Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ybp.3	nonsynonymous SNV	exon2	c.C316T	p.H106Y	PAKDKLVIGRIFHIVENDLYIDFGG	PAKDKLVIGRIFYIVENDLYIDFGG	7.0	8.0	-	-	3466_8:80915313-80915313 G>A_PAKDKLVIGRIFYIVENDLYIDFGG
22:42415776-42415776 C>T	1.0	3466	MELANOMA	-	-	-	-	WBP2NL	ENST00000445185,p.S63L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000445185	nonsynonymous SNV	exon3	c.C188T	p.S63L	LFLTSYRYLLQTSLRELFRQLHMVA	LFLTSYRYLLQTLLRELFRQLHMVA	6.0	4.0	unscreened	-	3466_22:42415776-42415776 C>T_LFLTSYRYLLQTLLRELFRQLHMVA
10:75526852-75526852 C>T	1.0	3466	MELANOMA	-	-	-	-	SEC24C	NM_198597,p.S645F|ENST00000339365,p.S645F|uc010qko.2,p.S526F|uc001jux.3,p.S645F|ENST00000411652,p.S526F|ENST00000345254,p.S645F|ENST00000465076,p.S645F|uc009xrj.2,p.S503F|uc001juw.3,p.S645F|NM_004922,p.S645F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qko.2	nonsynonymous SNV	exon14	c.C1577T	p.S526F	AECAGKLFLFHTSLPIAEAPGKLKN	AECAGKLFLFHTFLPIAEAPGKLKN	8.0	8.0	unscreened	-	3466_10:75526852-75526852 C>T_AECAGKLFLFHTFLPIAEAPGKLKN
1:118039419-118039419 G>A	1.0	3466	MELANOMA	-	-	-	-	MAN1A2	NM_006699,p.G440E|ENST00000356554,p.G440E|uc001ehd.1,p.G440E|uc009whg.1,p.G230E	protein_coding, processed_transcript	uc009whg.1	nonsynonymous SNV	exon8	c.G689A	p.G230E	EAIEKHLIKKSRGGLTFIGEWKNGH	EAIEKHLIKKSREGLTFIGEWKNGH	9.0	7.0	-	-	3466_1:118039419-118039419 G>A_EAIEKHLIKKSREGLTFIGEWKNGH
12:53415621-53415621 T>-	1.0	3466	MELANOMA	-	-	-	-	EIF4B	ENST00000549481,p.V170fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000549481	frameshift deletion	exon5	c.509delT	p.V170fs	EESLGNRRIRVDVADQAQDKEYRDR	EESLGNRRIRVDVLIKHRIKSIEIVMIQTGIGMGIGMGIGMAHAGIWIDMVAGIAMMTEAAETMIEAMIPG	10.0	9.0	unscreened	-	3466_12:53415621-53415621 T>-_EESLGNRRIRVDVLIKHRIKSIEIVMIQTGIGMGIGMGIGMAHAGIWIDMVAGIAMMTEAAETMIEAMIPG
18:47810328-47810328 C>A	1.0	3466	MELANOMA	-	-	-	-	CXXC1	uc002lep.4,p.R307L|ENST00000589940,p.R450L|uc002ler.4,p.R454L|NM_014593,p.R450L|ENST00000412036,p.R454L|NM_001101654,p.R454L|uc002leq.4,p.R450L|uc010doy.3,p.R450L|ENST00000285106,p.R450L	retained_intron, protein_coding, processed_transcript	uc010doy.3	nonsynonymous SNV	exon10	c.G1349T	p.R450L	QSARTRLQEMERRFHELEAIILRAK	QSARTRLQEMERLFHELEAIILRAK	6.0	3.0	-	-	3466_18:47810328-47810328 C>A_QSARTRLQEMERLFHELEAIILRAK
3:112289455-112289455 C>T	1.0	3466	MELANOMA	-	-	-	-	SLC35A5	ENST00000261034,p.P100S|ENST00000492406,p.P100S|uc003dze.4,p.P100S|ENST00000484995,p.P100S|NM_017945,p.P100S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003dze.4	nonsynonymous SNV	exon4	c.C298T	p.P100S	WKEFSDFMKWSIPAFLYFLDNLIVF	WKEFSDFMKWSISAFLYFLDNLIVF	9.0	4.0	-	-	3466_3:112289455-112289455 C>T_WKEFSDFMKWSISAFLYFLDNLIVF
7:72857104-72857104 C>G	1.0	3466	MELANOMA	-	-	-	-	BAZ1B	ENST00000404251,p.E1349Q|ENST00000339594,p.E1349Q|NM_032408,p.E1349Q|uc003tyc.3,p.E1349Q	retained_intron, protein_coding	uc003tyc.3	nonsynonymous SNV	exon18	c.G4045C	p.E1349Q	SSRRQSLELQKCEEILHKIVKYRFS	SSRRQSLELQKCQEILHKIVKYRFS	10.0	9.0	-	-	3466_7:72857104-72857104 C>G_SSRRQSLELQKCQEILHKIVKYRFS
14:52178271-52178271 C>T	1.0	3466	MELANOMA	-	-	ID=COSM1370070;OCCURENCE=1(large_intestine)	-	FRMD6	ENST00000554167,p.S169L|uc001wze.3,p.S169L|uc001wzb.4,p.S238L|ENST00000395718,p.S238L|ENST00000356218,p.S238L|ENST00000344768,p.S246L|uc001wzd.3,p.S246L|NM_152330,p.S238L|uc001wzc.3,p.S238L|NM_001042481,p.S238L|NM_001267046,p.S246L	retained_intron, protein_coding, processed_transcript	uc001wze.3	nonsynonymous SNV	exon6	c.C506T	p.S169L	YRLYKDKREIEASLTLGLTMRGIQI	YRLYKDKREIEALLTLGLTMRGIQI	10.0	6.0	-	-	3466_14:52178271-52178271 C>T_YRLYKDKREIEALLTLGLTMRGIQI
6:30633404-30633404 C>T	1.0	3466	MELANOMA	-	-	-	-	DHX16	ENST00000415603,p.G198E|NM_001164239,p.G198E|ENST00000376442,p.G258E|NM_003587,p.G258E|uc011dmo.2,p.G198E|uc003nqz.3,p.G258E	protein_coding, processed_transcript	uc011dmo.2	nonsynonymous SNV	exon5	c.G593A	p.G198E	LEAELADEEFLFGDVELSRHERQEL	LEAELADEEFLFEDVELSRHERQEL	8.0	9.0	unscreened	-	3466_6:30633404-30633404 C>T_LEAELADEEFLFEDVELSRHERQEL
16:57144701-57144701 C>T	1.0	3466	MELANOMA	-	-	-	-	CPNE2	uc010cct.2,p.P42L|ENST00000566259,p.P16L|ENST00000535318,p.P16L|uc010ccu.2,p.P16L|uc002eks.2,p.P16L|NM_152727,p.P16L|ENST00000565874,p.P16L|ENST00000290776,p.P16L	retained_intron, protein_coding, processed_transcript	uc010ccu.2	nonsynonymous SNV	exon1	c.C47T	p.P16L	IPSGGAPAAGAAPMGPQYCVCKVEL	IPSGGAPAAGAALMGPQYCVCKVEL	7.0	5.0	-	-	3466_16:57144701-57144701 C>T_IPSGGAPAAGAALMGPQYCVCKVEL
17:7578550-7578550 G>A	1.0	3466	MELANOMA	-	-	ID=COSM216414,COSM3378368,COSM44226,COSM216412,COSM216413,COSM1637542;OCCURENCE=5(ovary),2(small_intestine),6(skin),3(large_intestine),1(biliary_tract),1(urinary_tract),3(pancreas),1(stomach),3(central_nervous_system),2(oesophagus),2(upper_aerodigestive_tract),1(bone),1(thyroid),1(lung)	1	TP53	uc010cni.2,p.S127F|uc002gim.3,p.S127F|uc010cnh.2,p.S127F	retained_intron, protein_coding, processed_transcript	uc010cni.2	nonsynonymous SNV	exon5	c.C380T	p.S127F	GTRVRAMAIYKQSQHMTEVVRRCPH	GTRVRAMAIYKQFQHMTEVVRRCPH	9.0	9.0	unscreened	-	3466_17:7578550-7578550 G>A_GTRVRAMAIYKQFQHMTEVVRRCPH
4:141545347-141545347 G>A	1.0	3466	MELANOMA	-	-	-	-	TBC1D9	NM_015130,p.R1001C|ENST00000442267,p.R1001C|uc010ioj.3,p.R1001C	retained_intron, protein_coding	uc010ioj.3	nonsynonymous SNV	exon20	c.C3001T	p.R1001C	PDKGKRANSQENRNYLRLWTPENKS	PDKGKRANSQENCNYLRLWTPENKS	6.0	4.0	unscreened	-	3466_4:141545347-141545347 G>A_PDKGKRANSQENCNYLRLWTPENKS
17:5486071-5486071 C>T	1.0	3466	MELANOMA	-	-	ID=COSM1709674,COSM1709672,COSM1709673;OCCURENCE=1(skin)	-	NLRP1	ENST00000354411,p.E123K|uc002gci.3,p.E123K|uc002gck.3,p.E123K|ENST00000572272,p.E123K|uc002gcl.3,p.E123K|NM_033006,p.E123K|NM_001033053,p.E123K|ENST00000544378,p.E123K|ENST00000345221,p.E123K|ENST00000269280,p.E123K|NM_033007,p.E123K|ENST00000571451,p.E123K|ENST00000262467,p.E123K|uc002gch.4,p.E123K|NM_014922,p.E123K|NM_033004,p.E123K|uc010clh.3,p.E123K|ENST00000577119,p.E123K|uc002gcj.3,p.E123K|uc002gcg.1,p.E123K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010clh.3	nonsynonymous SNV	exon3	c.G367A	p.E123K	PTSTAVLMPWIHELPAGCTQGSERR	PTSTAVLMPWIHKLPAGCTQGSERR	9.0	9.0	unscreened	-	3466_17:5486071-5486071 C>T_PTSTAVLMPWIHKLPAGCTQGSERR
X:7175345-7175345 C>T	1.0	3466	MELANOMA	-	-	-	-	STS	ENST00000217961,p.S72L|uc004cry.4,p.S72L|NM_000351,p.S72L	protein_coding	uc004cry.4	nonsynonymous SNV	exon3	c.C215T	p.S72L	SGGVKLTQHLAASPLCTPSRAAFMT	SGGVKLTQHLAALPLCTPSRAAFMT	7.0	9.0	unscreened	-	3466_X:7175345-7175345 C>T_SGGVKLTQHLAALPLCTPSRAAFMT
2:47233819-47233819 C>T	1.0	3466	MELANOMA	-	-	-	-	TTC7A	uc002rvo.3,p.H415Y|NM_020458,p.H415Y|uc010fbc.3,p.H61Y|NM_001288955,p.H61Y|uc002rvn.1,p.H296Y|ENST00000263737,p.H61Y|ENST00000319190,p.H415Y|uc002rvp.3,p.H296Y|uc002rvm.3,p.H381Y|NM_001288953,p.H381Y|NM_001288951,p.H415Y|ENST00000409245,p.H381Y|ENST00000394850,p.H415Y|uc002rvq.3,p.H155Y|uc010fbb.3,p.H415Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fbc.3	nonsynonymous SNV	exon9	c.C181T	p.H61Y	LERAMKFAFGEFHLWYQVALSMVAC	LERAMKFAFGEFYLWYQVALSMVAC	6.0	5.0	-	-	3466_2:47233819-47233819 C>T_LERAMKFAFGEFYLWYQVALSMVAC
15:67496484-67496484 G>A	1.0	3466	MELANOMA	-	-	-	-	AAGAB	ENST00000261880,p.P240S|uc002aqk.5,p.P240S|ENST00000561452,p.P131S|NM_001271885,p.P131S|NM_001271886,p.P131S|uc010uju.3,p.P131S|ENST00000542650,p.P131S|uc031qsm.1,p.P131S|NM_024666,p.P240S	protein_coding, processed_transcript	uc031qsm.1	nonsynonymous SNV	exon8	c.C391T	p.P131S	NTTDAQVDSIVDPMLDLDIQELASL	NTTDAQVDSIVDSMLDLDIQELASL	7.0	7.0	-	-	3466_15:67496484-67496484 G>A_NTTDAQVDSIVDSMLDLDIQELASL
2:44201756-44201756 G>A	1.0	3466	MELANOMA	-	-	-	-	LRPPRC	uc010yob.1,p.P236S|ENST00000260665,p.P336S|ENST00000409946,p.P336S|NM_133259,p.P336S|ENST00000447246,p.P310S|uc002rtr.2,p.P336S|ENST00000409659,p.P336S|uc010faw.1,p.P310S	retained_intron, protein_coding	uc010yob.1	nonsynonymous SNV	exon7	c.C706T	p.P236S	ILEKVTCERRYIPDAMNLILLLVTE	ILEKVTCERRYISDAMNLILLLVTE	10.0	3.0	unscreened	-	3466_2:44201756-44201756 G>A_ILEKVTCERRYISDAMNLILLLVTE
19:44988634-44988634 G>A	1.0	3466	MELANOMA	-	-	-	-	ZNF180	NM_001288759,p.P48S|NM_001291633,p.P22S|NM_001278509,p.P22S|NM_013256,p.P49S	protein_coding, processed_transcript, nonsense_mediated_decay	NM_013256	nonsynonymous SNV	exon3	c.C145T	p.P49S	EPPKVCAQDSFLPQEIIIKVEGEDT	EPPKVCAQDSFLSQEIIIKVEGEDT	6.0	8.0	unscreened	-	3466_19:44988634-44988634 G>A_EPPKVCAQDSFLSQEIIIKVEGEDT
19:44988634-44988634 G>A	1.0	3466	MELANOMA	-	-	-	-	ZNF180	ENST00000591064,p.P22S|uc002ozf.4,p.P49S|uc002ozg.4,p.P48S|ENST00000221327,p.P49S|uc002ozi.4,p.P22S|ENST00000592529,p.P22S	protein_coding, processed_transcript, nonsense_mediated_decay	uc002ozi.4	nonsynonymous SNV	exon3	c.C64T	p.P22S	EPPKACAQDSFLPQEIIIKVEGEDT	EPPKACAQDSFLSQEIIIKVEGEDT	6.0	8.0	unscreened	-	3466_19:44988634-44988634 G>A_EPPKACAQDSFLSQEIIIKVEGEDT
7:20418703-20418703 C>T	1.0	3466	MELANOMA	-	-	-	-	ITGB8	ENST00000222573,p.H140Y|uc003suu.3,p.H140Y|NM_002214,p.H140Y|uc003sut.3,p.H140Y	retained_intron, protein_coding, processed_transcript	uc003suu.3	nonsynonymous SNV	exon4	c.C418T	p.H140Y	RPGAEANFMLKVHPLKKYPVDLYYL	RPGAEANFMLKVYPLKKYPVDLYYL	10.0	1.0	unscreened	-	3466_7:20418703-20418703 C>T_RPGAEANFMLKVYPLKKYPVDLYYL
14:64496617-64496617 C>T	1.0	3466	MELANOMA	-	-	-	-	SYNE2	ENST00000358025,p.S2240F|uc021ruh.1,p.S2240F|uc001xgl.3,p.S2240F|ENST00000344113,p.S2240F|NM_182914,p.S2240F|ENST00000554584,p.S2240F|uc001xgm.3,p.S2240F|NM_015180,p.S2240F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ruh.1	nonsynonymous SNV	exon43	c.C6719T	p.S2240F	HLHESLLQQLQDSVQNLDGHVREHD	HLHESLLQQLQDFVQNLDGHVREHD	8.0	2.0	unscreened	-	3466_14:64496617-64496617 C>T_HLHESLLQQLQDFVQNLDGHVREHD
20:32295624-32295624 G>C	1.0	3466	MELANOMA	-	-	-	-	PXMP4	uc002wzv.3,p.S176C|ENST00000409299,p.S176C|NM_007238,p.S176C	protein_coding	uc002wzv.3	nonsynonymous SNV	exon4	c.C527G	p.S176C	WGLVLWLFEYHRSTLQPSLQSSMTY	WGLVLWLFEYHRCTLQPSLQSSMTY	6.0	6.0	CD8	-	3466_20:32295624-32295624 G>C_WGLVLWLFEYHRCTLQPSLQSSMTY
15:99901588-99901588 C>T	1.0	3466	MELANOMA	-	-	-	-	LRRC28	ENST00000301981,p.S248L|ENST00000558172,p.S144L|uc002bvb.1,p.S94L|uc010urt.1,p.S62L|NM_001284400,p.S248L|uc010uru.1,p.S179L|uc002bva.1,p.S248L|NM_144598,p.S248L|ENST00000422500,p.S179L|uc002bvc.1,p.S248L|ENST00000447360,p.S248L|ENST00000561276,p.S203L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uru.1	nonsynonymous SNV	exon7	c.C536T	p.S179L	PIQVSEVKLLSFSSGQRTVFLPAEV	PIQVSEVKLLSFLSGQRTVFLPAEV	6.0	8.0	-	-	3466_15:99901588-99901588 C>T_PIQVSEVKLLSFLSGQRTVFLPAEV
X:16701263-16701263 G>A	1.0	3466	MELANOMA	-	-	-	-	CTPS2	NM_001144002,p.A320V|uc004cxl.3,p.A320V|NM_175859,p.A320V|uc004cxm.3,p.A320V|NM_019857,p.A320V|uc004cxk.3,p.A320V|ENST00000359276,p.A320V|ENST00000443824,p.A320V|ENST00000380241,p.A320V	protein_coding, processed_transcript	uc004cxm.3	nonsynonymous SNV	exon9	c.C959T	p.A320V	TKLRDCYASVFKALEHSALAINHKL	TKLRDCYASVFKVLEHSALAINHKL	6.0	9.0	unscreened	-	3466_X:16701263-16701263 G>A_TKLRDCYASVFKVLEHSALAINHKL
2:144899575-144899575 G>A	1.0	3466	MELANOMA	-	-	-	-	GTDC1	NM_001284233,p.S132L|ENST00000409214,p.S132L|uc002tvr.3,p.S132L|NM_001284235,p.S132L|NM_024659,p.S132L|uc002tvs.3,p.S100L|ENST00000392867,p.S132L|uc002tvp.3,p.S132L|NM_001284238,p.S100L|NM_001006636,p.S132L|NM_001164629,p.S132L|ENST00000392871,p.S132L|uc021vqf.1,p.S132L|ENST00000344850,p.S132L|ENST00000392869,p.S132L|ENST00000437114,p.S132L|uc002tvt.2,p.S132L|ENST00000241391,p.S132L|uc010fnn.3,p.S132L|uc021vqg.1,p.S132L|uc002tvo.3,p.S132L|ENST00000409298,p.S132L|ENST00000542155,p.S132L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vqg.1	nonsynonymous SNV	exon8	c.C395T	p.S132L	DVVVFNSVFNMESFLTSIGKFMKLI	DVVVFNSVFNMELFLTSIGKFMKLI	10.0	6.0	unscreened	Snp within 36 nucleotides, 2:144899559-144899559 C>A, residue 18 M>I PR	3466_2:144899575-144899575 G>A_DVVVFNSVFNMELFLTSIGKFMKLI
13:100211702-100211702 C>T	1.0	3466	MELANOMA	-	-	-	-	TM9SF2	NM_004800,p.S613L|ENST00000376387,p.S613L|uc001voj.2,p.S613L|uc010afz.2,p.S448L	protein_coding, processed_transcript	uc010afz.2	nonsynonymous SNV	exon12	c.C1343T	p.S448L	VYFLIYAVHYFFSKLQITGTASTIL	VYFLIYAVHYFFLKLQITGTASTIL	10.0	9.0	-	-	3466_13:100211702-100211702 C>T_VYFLIYAVHYFFLKLQITGTASTIL
1:171544232-171544232 C>T	1.0	3466	MELANOMA	-	-	-	-	PRRC2C	NM_015172,p.P2305L|ENST00000392078,p.P2307L|uc010pmi.2,p.P142L|uc010pmg.2,p.P2305L|ENST00000338920,p.P2305L|ENST00000367742,p.P2307L|ENST00000426496,p.P2240L|uc010pmh.2,p.P1217L	retained_intron, protein_coding, processed_transcript	uc010pmi.2	nonsynonymous SNV	exon7	c.C425T	p.P142L	YNSFSSASMPQIPVASVTPTASLSG	YNSFSSASMPQILVASVTPTASLSG	10.0	3.0	-	-	3466_1:171544232-171544232 C>T_YNSFSSASMPQILVASVTPTASLSG
2:187540581-187540581 C>T	1.0	3466	MELANOMA	-	-	-	2	ITGAV	ENST00000374907,p.S916L|uc002upq.4,p.S952L|uc010zfv.3,p.S906L|uc010frs.4,p.S916L|ENST00000433736,p.S906L|NM_001144999,p.S906L|ENST00000261023,p.S952L|NM_002210,p.S952L|NM_001145000,p.S916L	retained_intron, protein_coding, processed_transcript	uc010zfv.3	nonsynonymous SNV	exon28	c.C2717T	p.S906L	NKENQNHSYSLKSSASFNVIEFPYK	NKENQNHSYSLKLSASFNVIEFPYK	10.0	7.0	-	-	3466_2:187540581-187540581 C>T_NKENQNHSYSLKLSASFNVIEFPYK
20:25439072-25439072 G>A	1.0	3466	MELANOMA	-	-	-	-	NINL	uc002wux.1,p.R1264C|NM_025176,p.R1264C|uc002wuw.1,p.R55C|uc010gdn.1,p.R915C|ENST00000422516,p.R915C|ENST00000278886,p.R1264C	protein_coding, processed_transcript	uc010gdn.1	nonsynonymous SNV	exon21	c.C2743T	p.R915C	RLVPQDRVAELHRLLSLQGEQARRR	RLVPQDRVAELHCLLSLQGEQARRR	7.0	6.0	unscreened	-	3466_20:25439072-25439072 G>A_RLVPQDRVAELHCLLSLQGEQARRR
3:184025754-184025754 C>T	1.0	3466	MELANOMA	-	-	-	-	PSMD2	uc011brj.1,p.A633V|NM_001278708,p.A662V|uc011brk.1,p.A662V|ENST00000310118,p.A792V|NM_001278709,p.A633V|ENST00000439383,p.A662V|ENST00000435761,p.A633V|uc003fnn.1,p.A792V|NM_002808,p.A792V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011brk.1	nonsynonymous SNV	exon17	c.C1985T	p.A662V	PYHSDRQLMSQVAVAGLLTVLVSFL	PYHSDRQLMSQVVVAGLLTVLVSFL	10.0	5.0	-	-	3466_3:184025754-184025754 C>T_PYHSDRQLMSQVVVAGLLTVLVSFL
1:12371527-12371527 G>T	1.0	3466	MELANOMA	-	-	-	-	VPS13D	NM_018156,p.V2223L|ENST00000356315,p.V2223L|uc001atw.3,p.V2223L|uc001atx.3,p.V1411L|ENST00000358136,p.V2223L|uc001atv.3,p.V2223L|NM_015378,p.V2223L	protein_coding, processed_transcript	uc001atx.3	nonsynonymous SNV	exon10	c.G4231T	p.V1411L	VERNLDKEISHTVPDISIHGNLSSV	VERNLDKEISHTLPDISIHGNLSSV	8.0	8.0	-	-	3466_1:12371527-12371527 G>T_VERNLDKEISHTLPDISIHGNLSSV
2:191873810-191873810 G>A	1.0	3466	MELANOMA	-	-	-	-	STAT1	ENST00000432058,p.S51L|uc002usk.2,p.S51L|ENST00000454414,p.S51L|ENST00000424722,p.S51L|ENST00000452281,p.S51L|NM_139266,p.S51L|uc002usj.2,p.S51L|ENST00000540176,p.S51L|ENST00000392323,p.S53L|ENST00000409465,p.S51L|ENST00000392322,p.S51L|ENST00000361099,p.S51L|uc002usl.2,p.S53L|NM_007315,p.S51L|uc010fse.2,p.S51L	retained_intron, protein_coding, nonsense_mediated_decay	uc010fse.2	nonsynonymous SNV	exon3	c.C152T	p.S51L	EKQDWEHAANDVSFATIRFHDLLSQ	EKQDWEHAANDVLFATIRFHDLLSQ	10.0	8.0	-	-	3466_2:191873810-191873810 G>A_EKQDWEHAANDVLFATIRFHDLLSQ
18:12427309-12427309 C>T	1.0	3466	MELANOMA	-	-	-	-	SLMO1	NM_001142405,p.S151F|uc010wzv.2,p.S130F|uc002kra.3,p.S151F|ENST00000336990,p.S151F|ENST00000440960,p.S151F|ENST00000590956,p.S61F|uc010wzu.2,p.S151F|NM_006553,p.S151F|ENST00000587735,p.S61F|ENST00000592149,p.S130F	protein_coding, nonsense_mediated_decay	uc010wzv.2	nonsynonymous SNV	exon4	c.C389T	p.S130F	SYLESLMANTISSNAKKGWAAIEWI	SYLESLMANTISFNAKKGWAAIEWI	7.0	4.0	unscreened	-	3466_18:12427309-12427309 C>T_SYLESLMANTISFNAKKGWAAIEWI
1:229666038-229666038 G>A	1.0	3466	MELANOMA	-	-	ID=COSM905270;OCCURENCE=1(endometrium)	-	ABCB10	ENST00000344517,p.P518L|NM_012089,p.P518L|uc001htp.4,p.P518L	protein_coding, processed_transcript	uc001htp.4	nonsynonymous SNV	exon8	c.C1553T	p.P518L	EVPIFQDFSLSIPSGSVTALVGPSG	EVPIFQDFSLSILSGSVTALVGPSG	5.0	3.0	unscreened	-	3466_1:229666038-229666038 G>A_EVPIFQDFSLSILSGSVTALVGPSG
1:233161005-233161005 C>T	1.0	3466	MELANOMA	-	-	-	-	PCNXL2	NM_014801,p.E1498K|ENST00000344698,p.E150K|uc001hvl.2,p.E1498K|uc001hvk.1,p.E150K|ENST00000258229,p.E1498K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001hvl.2	nonsynonymous SNV	exon26	c.G4492A	p.E1498K	CNAAFHLRWLTWEITQTQYILEGYS	CNAAFHLRWLTWKITQTQYILEGYS	9.0	3.0	-	-	3466_1:233161005-233161005 C>T_CNAAFHLRWLTWKITQTQYILEGYS
10:88260038-88260038 G>A	1.0	3466	MELANOMA	-	-	-	-	WAPAL	uc001kdn.3,p.A364V|uc009xsw.3,p.A321V|NM_015045,p.A321V|ENST00000298767,p.A321V|uc001kdo.3,p.A321V	protein_coding, processed_transcript	uc009xsw.3	nonsynonymous SNV	exon3	c.C962T	p.A321V	SNFDKLMDGTSQALAKANSESSKDG	SNFDKLMDGTSQVLAKANSESSKDG	8.0	6.0	-	-	3466_10:88260038-88260038 G>A_SNFDKLMDGTSQVLAKANSESSKDG
11:118343637-118343637 C>T	1.0	3466	MELANOMA	-	-	-	1	KMT2A	uc001ptb.3,p.P588L|NM_005933,p.P588L|ENST00000354520,p.P588L|uc001psz.1,p.P621L|ENST00000534358,p.P588L|ENST00000389506,p.P588L|uc001pta.3,p.P588L|NM_001197104,p.P588L|ENST00000531904,p.P621L	retained_intron, protein_coding, processed_transcript	uc001ptb.3	nonsynonymous SNV	exon3	c.C1763T	p.P588L	SSISDHTPWLMPPTIPLASPFLPAS	SSISDHTPWLMPLTIPLASPFLPAS	8.0	5.0	-	-	3466_11:118343637-118343637 C>T_SSISDHTPWLMPLTIPLASPFLPAS
10:127504783-127504783 G>A	1.0	3466	MELANOMA	-	-	-	-	UROS	ENST00000368778,p.S37L|ENST00000368786,p.S37L|uc001lix.4,p.S37L|ENST00000368797,p.S37L|NM_000375,p.S37L|ENST00000368774,p.S37L|uc001liw.4,p.S37L	protein_coding, processed_transcript	uc001lix.4	nonsynonymous SNV	exon3	c.C110T	p.S37L	LYGLEATLIPVLSFEFLSLPSFSEK	LYGLEATLIPVLLFEFLSLPSFSEK	6.0	5.0	-	-	3466_10:127504783-127504783 G>A_LYGLEATLIPVLLFEFLSLPSFSEK
10:112266762-112266762 C>T	1.0	3466	MELANOMA	-	-	-	-	DUSP5	ENST00000369583,p.L200F|uc001kzd.3,p.L200F|NM_004419,p.L200F	protein_coding, processed_transcript	uc001kzd.3	nonsynonymous SNV	exon3	c.C598T	p.L200F	LGSAYHASKCEFLANLHITALLNVS	LGSAYHASKCEFFANLHITALLNVS	7.0	4.0	unscreened	-	3466_10:112266762-112266762 C>T_LGSAYHASKCEFFANLHITALLNVS
16:67913600-67913600 C>T	1.0	3466	MELANOMA	-	-	-	-	EDC4	uc002eur.3,p.L582F|uc002eus.3,p.L312F|uc010vkg.1,p.L514F|NM_014329,p.L582F|ENST00000358933,p.L582F|uc010cer.3,p.L201F	retained_intron, protein_coding, processed_transcript	uc010vkg.1	nonsynonymous SNV	exon15	c.C1540T	p.L514F	RRIVELPAPADFLSLSSETKPKLMT	RRIVELPAPADFFSLSSETKPKLMT	9.0	7.0	-	-	3466_16:67913600-67913600 C>T_RRIVELPAPADFFSLSSETKPKLMT
18:76870407-76870407 C>T	1.0	3466	MELANOMA	-	-	-	-	ATP9B	uc002lmw.1,p.R116C|ENST00000586366,p.R116C|uc002lmx.3,p.R116C|ENST00000426216,p.R116C|uc002lmu.3,p.R116C|ENST00000586672,p.R58C|ENST00000307671,p.R116C|ENST00000586722,p.R116C|ENST00000458297,p.R64C|NM_198531,p.R116C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lmx.3	nonsynonymous SNV	exon3	c.C346T	p.R116C	INICRRKKELKARTVWLGCPEKCEE	INICRRKKELKACTVWLGCPEKCEE	8.0	5.0	unscreened	-	3466_18:76870407-76870407 C>T_INICRRKKELKACTVWLGCPEKCEE
2:192255065-192255065 C>T	1.0	3466	MELANOMA	-	-	-	-	MYO1B	NM_012223,p.A610V|ENST00000392316,p.A610V|uc002usq.2,p.A610V|ENST00000304164,p.A610V|NM_001161819,p.A610V|NM_001130158,p.A610V|uc010fsg.2,p.A610V|ENST00000392318,p.A610V|ENST00000339514,p.A610V|uc002usr.2,p.A610V	retained_intron, protein_coding, processed_transcript	uc010fsg.2	nonsynonymous SNV	exon18	c.C1829T	p.A610V	PNDKKAAHIFNEALVCHQIRYLGLL	PNDKKAAHIFNEVLVCHQIRYLGLL	8.0	8.0	-	-	3466_2:192255065-192255065 C>T_PNDKKAAHIFNEVLVCHQIRYLGLL
3:58135664-58135664 C>T	1.0	3466	MELANOMA	-	-	-	-	FLNB	ENST00000357272,p.S2060F|ENST00000348383,p.S2060F|NM_001457,p.S2060F|NM_001164319,p.S2036F|ENST00000419752,p.S1880F|NM_001164317,p.S2091F|ENST00000493452,p.S1867F|ENST00000490882,p.S2091F|NM_001164318,p.S2049F|uc003djl.2,p.S1880F|uc010hne.2,p.S2091F|uc003djk.2,p.S2049F|uc003djm.2,p.S1867F|uc003djj.2,p.S2060F|ENST00000429972,p.S2049F|uc010hnf.2,p.S2036F|ENST00000295956,p.S2060F|ENST00000358537,p.S2036F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hnf.2	nonsynonymous SNV	exon36	c.C6107T	p.S2036F	QTEDLEDGTCKVSYFPTVPGVYIVS	QTEDLEDGTCKVFYFPTVPGVYIVS	10.0	5.0	-	-	3466_3:58135664-58135664 C>T_QTEDLEDGTCKVFYFPTVPGVYIVS
1:9324882-9324882 C>T	1.0	3466	MELANOMA	-	-	-	-	H6PD	ENST00000602477,p.S788F|NM_004285,p.S777F|uc001apt.3,p.S777F|ENST00000377403,p.S777F|NM_001282587,p.S788F	protein_coding, processed_transcript	uc001apt.3	nonsynonymous SNV	exon5	c.C2330T	p.S777F	PKKWPISGVLPHSGQLVWYMDYDAF	PKKWPISGVLPHFGQLVWYMDYDAF	8.0	2.0	-	-	3466_1:9324882-9324882 C>T_PKKWPISGVLPHFGQLVWYMDYDAF
7:138738200-138738200 T>G	1.0	3466	MELANOMA	-	-	-	-	ZC3HAV1	uc003vun.3,p.K816Q|ENST00000242351,p.K816Q|ENST00000464606,p.K938Q|NM_020119,p.K816Q	protein_coding	uc003vun.3	nonsynonymous SNV	exon12	c.A2446C	p.K816Q	SFLHETHENKYGKGIYFAKDAIYSH	SFLHETHENKYGQGIYFAKDAIYSH	9.0	1.0	unscreened	-	3466_7:138738200-138738200 T>G_SFLHETHENKYGQGIYFAKDAIYSH
4:169194483-169194483 C>T	1.0	3466	MELANOMA	-	-	-	-	DDX60	NM_017631,p.V841I|uc003irp.3,p.V841I|ENST00000393743,p.V841I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003irp.3	nonsynonymous SNV	exon18	c.G2521A	p.V841I	QNRFTKNLPSGEVLCGVFTREYRHD	QNRFTKNLPSGEILCGVFTREYRHD	7.0	2.0	-	-	3466_4:169194483-169194483 C>T_QNRFTKNLPSGEILCGVFTREYRHD
6:32944167-32944167 C>T	1.0	3466	MELANOMA	-	-	-	-	BRD2	ENST00000495733,p.L251F|NM_005104,p.L251F|ENST00000443797,p.L131F|uc003ocn.4,p.L251F|NM_001199455,p.L251F|uc021ywf.1,p.L204F|NM_001291986,p.L131F|ENST00000374831,p.L251F|NM_001113182,p.L251F|ENST00000607833,p.L251F|ENST00000395289,p.L251F|NM_001199456,p.L204F|uc003ocq.4,p.L251F|uc010juh.3,p.L251F|uc003ocp.4,p.L131F|ENST00000374825,p.L251F|ENST00000395287,p.L251F|ENST00000449085,p.L204F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ywf.1	nonsynonymous SNV	exon5	c.C610T	p.L204F	NIPHPSVISSPLLKSLHSAGPPLLA	NIPHPSVISSPLFKSLHSAGPPLLA	10.0	1.0	unscreened	-	3466_6:32944167-32944167 C>T_NIPHPSVISSPLFKSLHSAGPPLLA
X:85211332-85211332 G>A	1.0	3466	MELANOMA	-	-	-	-	CHM	NM_000390,p.P331L|ENST00000537751,p.P183L|ENST00000357749,p.P331L|uc004eet.3,p.P331L|uc011mqz.2,p.P183L	protein_coding, processed_transcript	uc011mqz.2	nonsynonymous SNV	exon5	c.C548T	p.P183L	TFYEYLKTQKLTPNLQYIVMHSIAM	TFYEYLKTQKLTLNLQYIVMHSIAM	8.0	9.0	-	-	3466_X:85211332-85211332 G>A_TFYEYLKTQKLTLNLQYIVMHSIAM
11:122955333-122955333 C>A	1.0	3466	MELANOMA	-	-	-	-	CLMP	ENST00000448775,p.G92V|NM_024769,p.G92V|uc001pyt.3,p.G92V	retained_intron, protein_coding, processed_transcript	uc001pyt.3	nonsynonymous SNV	exon3	c.G275T	p.G92V	KGRVAFASNFLAGDASLQIEPLKPS	KGRVAFASNFLAVDASLQIEPLKPS	6.0	4.0	-	-	3466_11:122955333-122955333 C>A_KGRVAFASNFLAVDASLQIEPLKPS
7:154785460-154785460 G>A	1.0	3466	MELANOMA	-	-	-	-	PAXIP1	ENST00000457196,p.S79F|uc022aqg.1,p.S79F|ENST00000404141,p.S79F|NM_007349,p.S79F|ENST00000397192,p.S79F|uc022aqf.1,p.S79F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022aqg.1	nonsynonymous SNV	exon3	c.C236T	p.S79F	DLPVVKPSWVILSVQCGTLLPVNGF	DLPVVKPSWVILFVQCGTLLPVNGF	6.0	9.0	-	-	3466_7:154785460-154785460 G>A_DLPVVKPSWVILFVQCGTLLPVNGF
14:55607069-55607069 C>T	1.0	3466	MELANOMA	-	-	-	-	LGALS3	NM_001177388,p.P140L|uc021rtj.1,p.P140L|uc001xbr.3,p.P140L|ENST00000254301,p.P140L|NM_002306,p.P140L|ENST00000554715,p.P140L	retained_intron, protein_coding, processed_transcript	uc021rtj.1	nonsynonymous SNV	exon4	c.C419T	p.P140L	PRMLITILGTVKPNANRIALDFQRG	PRMLITILGTVKLNANRIALDFQRG	9.0	3.0	unscreened	-	3466_14:55607069-55607069 C>T_PRMLITILGTVKLNANRIALDFQRG
1:21133870-21133870 G>A	1.0	3466	MELANOMA	-	-	-	-	EIF4G3	NM_001198801,p.S1603F|uc009vpz.3,p.S1287F|uc010odj.2,p.S1566F|ENST00000374935,p.S1287F|uc001bef.3,p.S1603F|ENST00000602326,p.S1573F|uc001bee.3,p.S1573F|ENST00000264211,p.S1567F|uc001bec.3,p.S1567F|ENST00000400422,p.S1567F|NM_003760,p.S1567F|ENST00000537738,p.S1057F|uc010odi.2,p.S1171F|NM_001198802,p.S1573F|ENST00000536266,p.S1171F|ENST00000374937,p.S1573F	protein_coding, processed_transcript	uc010odj.2	nonsynonymous SNV	exon31	c.C4697T	p.S1566F	PAEQNGKGVALKSVTAFFTWLREAE	PAEQNGKGVALKFVTAFFTWLREAE	9.0	2.0	-	-	3466_1:21133870-21133870 G>A_PAEQNGKGVALKFVTAFFTWLREAE
14:68221912-68221912 G>A	1.0	3466	MELANOMA	-	-	-	-	ZFYVE26	NM_015346,p.S2281L|uc001xkb.3,p.S127L|ENST00000557306,p.S127L|ENST00000347230,p.S2281L|uc001xka.2,p.S2281L	retained_intron, protein_coding, nonsense_mediated_decay	uc001xkb.3	nonsynonymous SNV	exon3	c.C380T	p.S127L	MTCIRFFSHKAKSYTELGEKLSWLL	MTCIRFFSHKAKLYTELGEKLSWLL	8.0	4.0	-	-	3466_14:68221912-68221912 G>A_MTCIRFFSHKAKLYTELGEKLSWLL
14:21544737-21544737 C>T	1.0	3466	MELANOMA	-	-	-	-	ARHGEF40	uc001vzp.3,p.P618S|NM_018071,p.P618S|ENST00000298694,p.P618S|ENST00000298693,p.P618S	retained_intron, protein_coding, nonsense_mediated_decay	uc001vzp.3	nonsynonymous SNV	exon7	c.C1852T	p.P618S	PALSQLQDSGDPPLVQRLLILIHDD	PALSQLQDSGDPSLVQRLLILIHDD	10.0	4.0	-	-	3466_14:21544737-21544737 C>T_PALSQLQDSGDPSLVQRLLILIHDD
2:139308586-139308586 C>T	1.0	3466	MELANOMA	-	-	-	-	SPOPL	ENST00000420679,p.S105F|uc002tvh.3,p.S105F|NM_001001664,p.S105F|ENST00000280098,p.S105F	retained_intron, protein_coding, nonsense_mediated_decay	uc002tvh.3	nonsynonymous SNV	exon4	c.C314T	p.S105F	CPKSEVRAKFKFSLLNAKREETKAM	CPKSEVRAKFKFFLLNAKREETKAM	8.0	2.0	unscreened	-	3466_2:139308586-139308586 C>T_CPKSEVRAKFKFFLLNAKREETKAM
3:194343960-194343960 G>A	1.0	3466	MELANOMA	-	-	-	-	TMEM44	uc010hzn.3,p.S202F|ENST00000392432,p.S202F|NM_001166305,p.S202F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hzn.3	nonsynonymous SNV	exon5	c.C605T	p.S202F	AFGSWASRIPPLSRIAPPPTLGITT	AFGSWASRIPPLFRIAPPPTLGITT	5.0	4.0	unscreened	-	3466_3:194343960-194343960 G>A_AFGSWASRIPPLFRIAPPPTLGITT
1:86047737-86047737 C>T	1.0	3466	MELANOMA	-	-	-	-	CYR61	ENST00000451137,p.P135L|uc001dle.3,p.P135L|uc021opf.1,p.P68L|NM_001554,p.P135L	protein_coding, processed_transcript	uc021opf.1	nonsynonymous SNV	exon1	c.C203T	p.P68L	CIDGAVGCIPLCPQELSLPNLGCPN	CIDGAVGCIPLCLQELSLPNLGCPN	10.0	7.0	-	-	3466_1:86047737-86047737 C>T_CIDGAVGCIPLCLQELSLPNLGCPN
2:36810515-36810515 G>A	1.0	3466	MELANOMA	-	-	-	-	FEZ2	uc002rpj.2,p.P158L|NM_001042548,p.P158L|NM_005102,p.P158L|uc002rph.2,p.P158L|ENST00000451623,p.P158L|ENST00000405912,p.P158L|ENST00000379245,p.P158L|uc002rpg.2,p.P158L|ENST00000357996,p.P57L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002rpj.2	nonsynonymous SNV	exon3	c.C473T	p.P158L	MHSIIVSCVNDEPLFTADQVIEEIE	MHSIIVSCVNDELLFTADQVIEEIE	10.0	3.0	-	-	3466_2:36810515-36810515 G>A_MHSIIVSCVNDELLFTADQVIEEIE
16:53480980-53480980 T>C	1.0	3466	MELANOMA	-	-	-	-	RBL2	uc010vgv.1,p.I126T|ENST00000544405,p.I126T|ENST00000567964,p.I69T|uc002ehi.4,p.I200T|ENST00000262133,p.I200T|NM_005611,p.I200T	retained_intron, protein_coding, processed_transcript	uc010vgv.1	nonsynonymous SNV	exon4	c.T377C	p.I126T	RKQRRQPCTVSEIFHFCWVLFIYAK	RKQRRQPCTVSETFHFCWVLFIYAK	9.0	3.0	-	-	3466_16:53480980-53480980 T>C_RKQRRQPCTVSETFHFCWVLFIYAK
12:27842047-27842047 C>T	1.0	3466	MELANOMA	-	-	-	1	PPFIBP1	ENST00000318304,p.L872F|ENST00000542629,p.L841F|uc010sjr.1,p.L703F|ENST00000228425,p.L866F|NM_003622,p.L866F|ENST00000537927,p.L719F|NM_001198916,p.L841F|uc001ric.2,p.L872F|uc001rib.2,p.L866F|uc001ria.3,p.L841F|uc001rif.2,p.L379F|uc001rid.2,p.L719F|NM_177444,p.L872F|NM_001198915,p.L719F|ENST00000540114,p.L703F	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc010sjr.1	nonsynonymous SNV	exon23	c.C2107T	p.L703F	TLLRRHLATHFNLLIGAEAQHQKRD	TLLRRHLATHFNFLIGAEAQHQKRD	10.0	4.0	-	-	3466_12:27842047-27842047 C>T_TLLRRHLATHFNFLIGAEAQHQKRD
4:155457881-155457881 G>A	1.0	3466	MELANOMA	-	-	-	-	PLRG1	NM_001201564,p.P492S|ENST00000499023,p.P501S|uc003iny.3,p.P501S|NM_002669,p.P501S|ENST00000302078,p.P492S|ENST00000393905,p.P501S|uc003inz.3,p.P492S	retained_intron, protein_coding, nonsense_mediated_decay	uc003inz.3	nonsynonymous SNV	exon15	c.C1474T	p.P492S	YREDDTATEETHPVSWKPEIIKRKR	YREDDTATEETHSVSWKPEIIKRKR	8.0	5.0	unscreened	-	3466_4:155457881-155457881 G>A_YREDDTATEETHSVSWKPEIIKRKR
2:219679377-219679377 C>T	1.0	3466	MELANOMA	-	-	-	-	CYP27A1	uc002viz.4,p.P458L|NM_000784,p.P458L|ENST00000258415,p.P458L	retained_intron, protein_coding, nonsense_mediated_decay	uc002viz.4	nonsynonymous SNV	exon8	c.C1373T	p.P458L	PHRWLRNSQPATPRIQHPFGSVPFG	PHRWLRNSQPATLRIQHPFGSVPFG	9.0	1.0	unscreened	-	3466_2:219679377-219679377 C>T_PHRWLRNSQPATLRIQHPFGSVPFG
1:46476442-46476442 C>T	1.0	3466	MELANOMA	-	-	-	-	MAST2	uc001cow.3,p.S340F|ENST00000361297,p.S340F|uc009vya.3,p.S262F|uc001coy.1,p.S48F|uc001cov.3,p.S340F|NM_015112,p.S340F|ENST00000372008,p.S225F|uc001coz.1,p.S225F	protein_coding, processed_transcript	uc009vya.3	nonsynonymous SNV	exon9	c.C785T	p.S262F	TAQMEERLAEFISSNTPDSVLPLAD	TAQMEERLAEFIFSNTPDSVLPLAD	7.0	3.0	unscreened	-	3466_1:46476442-46476442 C>T_TAQMEERLAEFIFSNTPDSVLPLAD
11:74053576-74053576 C>T	1.0	3466	MELANOMA	-	-	-	-	PGM2L1	ENST00000298198,p.G521E|uc001ovb.1,p.G521E|NM_173582,p.G521E	protein_coding, TEC	uc001ovb.1	nonsynonymous SNV	exon12	c.G1562A	p.G521E	NFDSPKEYPKFCGTFAILHVRDVTT	NFDSPKEYPKFCETFAILHVRDVTT	6.0	6.0	unscreened	-	3466_11:74053576-74053576 C>T_NFDSPKEYPKFCETFAILHVRDVTT
2:29940476-29940476 G>T	1.0	3466	MELANOMA	-	-	-	1	ALK	ENST00000431873,p.S252Y	protein_coding, processed_transcript	ENST00000431873	nonsynonymous SNV	exon2	c.C755A	p.S252Y	YFTWNLTWIMKDSFPFLSHRSRYGK	YFTWNLTWIMKDYFPFLSHRSRYGK	5.0	8.0	unscreened	-	3466_2:29940476-29940476 G>T_YFTWNLTWIMKDYFPFLSHRSRYGK
19:17278771-17278771 G>A	1.0	3466	MELANOMA	-	-	-	-	MYO9B	uc010eak.3,p.G564R|ENST00000595618,p.G564R|ENST00000595641,p.G564R|ENST00000594824,p.G564R|NM_004145,p.G564R|uc002nfi.3,p.G564R|NM_001130065,p.G564R|uc002nfj.1,p.G564R|ENST00000397274,p.G564R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010eak.3	nonsynonymous SNV	exon11	c.G1690A	p.G564R	IFKLEQEEYQGEGITWHNIGYTDNV	IFKLEQEEYQGERITWHNIGYTDNV	10.0	1.0	-	-	3466_19:17278771-17278771 G>A_IFKLEQEEYQGERITWHNIGYTDNV
2:29940476-29940476 G>T	1.0	3466	MELANOMA	-	-	-	1	ALK	ENST00000389048,p.S252Y|uc002rmy.3,p.S252Y|NM_004304,p.S252Y	protein_coding, processed_transcript	uc002rmy.3	nonsynonymous SNV	exon2	c.C755A	p.S252Y	YFTWNLTWIMKDSFPFLSHRSRYGL	YFTWNLTWIMKDYFPFLSHRSRYGL	5.0	8.0	unscreened	-	3466_2:29940476-29940476 G>T_YFTWNLTWIMKDYFPFLSHRSRYGL
19:18968240-18968240 C>T	1.0	3466	MELANOMA	-	-	-	-	UPF1	uc002nkf.3,p.R694W|NM_002911,p.R694W|NM_001297549,p.R705W|ENST00000599848,p.R705W|ENST00000262803,p.R694W|uc002nkg.3,p.R705W	retained_intron, protein_coding, processed_transcript	uc002nkg.3	nonsynonymous SNV	exon15	c.C2113T	p.R705W	QSLFERLVVLGIRPIRLQVQYRMHP	QSLFERLVVLGIWPIRLQVQYRMHP	8.0	3.0	-	-	3466_19:18968240-18968240 C>T_QSLFERLVVLGIWPIRLQVQYRMHP
14:68934946-68934946 G>A	1.0	3466	MELANOMA	-	-	-	1	RAD51B	NM_002877,p.E339K|uc001xke.3,p.E339K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xke.3	nonsynonymous SNV	exon10	c.G1015A	p.E339K	LAPFTSFVYTIKEEGLVLQAYGNS	LAPFTSFVYTIKKEGLVLQAYGNS	6.0	6.0	unscreened	-	3466_14:68934946-68934946 G>A_LAPFTSFVYTIKKEGLVLQAYGNS
15:43270086-43270086 G>A	1.0	3466	MELANOMA	-	-	-	-	UBR1	ENST00000290650,p.H1404Y|NM_174916,p.H1404Y|uc001zqq.3,p.H1404Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zqq.3	nonsynonymous SNV	exon38	c.C4210T	p.H1404Y	EDTPCLLSIDLFHVLVGAVLAFPSL	EDTPCLLSIDLFYVLVGAVLAFPSL	7.0	8.0	unscreened	-	3466_15:43270086-43270086 G>A_EDTPCLLSIDLFYVLVGAVLAFPSL
1:227300521-227300521 C>T	1.0	3466	MELANOMA	-	-	-	-	CDC42BPA	NM_003607,p.E581K|ENST00000334218,p.E581K|ENST00000366769,p.E581K|ENST00000366766,p.E581K|uc010pvs.2,p.E581K|ENST00000535525,p.E581K|uc009xes.3,p.E581K|ENST00000366765,p.E581K|uc001hqr.3,p.E581K|ENST00000366764,p.E581K	protein_coding, processed_transcript	uc010pvs.2	nonsynonymous SNV	exon13	c.G1741A	p.E581K	HCQRKLAMQEFMEINERLTELHTQK	HCQRKLAMQEFMKINERLTELHTQK	8.0	4.0	-	-	3466_1:227300521-227300521 C>T_HCQRKLAMQEFMKINERLTELHTQK
1:221875984-221875984 G>A	1.0	3466	MELANOMA	-	-	-	-	DUSP10	NM_007207,p.H407Y|ENST00000366899,p.H407Y|uc001hmy.2,p.H407Y|ENST00000323825,p.H65Y|uc001hmz.2,p.H65Y|ENST00000544095,p.H65Y|uc001hmx.2,p.H65Y	protein_coding, processed_transcript	uc001hmz.2	nonsynonymous SNV	exon3	c.C193T	p.H65Y	EEAHQCGKGLLIHCQAGVSRSATIV	EEAHQCGKGLLIYCQAGVSRSATIV	8.0	7.0	-	-	3466_1:221875984-221875984 G>A_EEAHQCGKGLLIYCQAGVSRSATIV
8:89086857-89086857 C>T	1.0	3466	MELANOMA	-	-	-	-	MMP16	NM_005941,p.D400N|uc003yeb.4,p.D400N|ENST00000286614,p.D400N	retained_intron, protein_coding, processed_transcript	uc003yeb.4	nonsynonymous SNV	exon7	c.G1198A	p.D400N	LPPSIDAVYENSDGNFVFFKGNKYW	LPPSIDAVYENSNGNFVFFKGNKYW	8.0	8.0	-	-	3466_8:89086857-89086857 C>T_LPPSIDAVYENSNGNFVFFKGNKYW
10:122630798-122630798 C>T	1.0	3466	MELANOMA	-	-	ID=COSM915456;OCCURENCE=2(endometrium)	-	WDR11	ENST00000497136,p.S177L|ENST00000605543,p.S73L	protein_coding, processed_transcript	ENST00000605543	nonsynonymous SNV	exon3	c.C218T	p.S73L	TAFRTARTTVCYSYVSTVDHKKHQD	TAFRTARTTVCYLYVSTVDHKKHQD	9.0	7.0	unscreened	-	3466_10:122630798-122630798 C>T_TAFRTARTTVCYLYVSTVDHKKHQD
2:15674692-15674694 TGT>-	1.0	3466	MELANOMA	-	-	-	-	NBAS	NM_015909,p.240_241del|ENST00000281513,p.240_241del|ENST00000441750,p.240_241del|uc002rcc.2,p.240_241del	retained_intron, protein_coding, nonsense_mediated_decay	uc002rcc.2	nonframeshift deletion	exon9	c.719_721del	p.240_241del	CFSFSSHYPHGINTAIYHPGHRLLL	CFSFSSHYPHGITAIYHPGHRLLLV	6.0	5.0	unscreened	-	3466_2:15674692-15674694 TGT>-_CFSFSSHYPHGITAIYHPGHRLLLV
11:64757112-64757112 C>T	1.0	3466	MELANOMA	-	-	-	-	BATF2	uc021qlb.1,p.G112S	retained_intron, protein_coding	uc021qlb.1	nonsynonymous SNV	exon1	c.G334A	p.G112S	LQGSWAAGTRLRGSWALAHRDNMAA	LQGSWAAGTRLRSSWALAHRDNMAA	6.0	5.0	unscreened	-	3466_11:64757112-64757112 C>T_LQGSWAAGTRLRSSWALAHRDNMAA
12:12315300-12315300 G>T	1.0	3466	MELANOMA	-	-	-	-	LRP6	uc010shl.1,p.F702L|uc001rah.4,p.F702L|ENST00000543091,p.F702L|ENST00000261349,p.F702L|NM_002336,p.F702L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010shl.1	nonsynonymous SNV	exon10	c.C2106A	p.F702L	FMNGSALEHVVEFGLDYPEGMAVDW	FMNGSALEHVVELGLDYPEGMAVDW	9.0	4.0	-	-	3466_12:12315300-12315300 G>T_FMNGSALEHVVELGLDYPEGMAVDW
13:114817595-114817595 G>A	1.0	3466	MELANOMA	-	-	-	-	RASA3	ENST00000389544,p.P38L|NM_007368,p.P70L|ENST00000334062,p.P70L|ENST00000542651,p.P70L|uc001vui.3,p.P70L|uc010tkk.2,p.P38L	protein_coding	uc010tkk.2	nonsynonymous SNV	exon3	c.C113T	p.P38L	CPFYGEDFYCEIPRSFRHLSFYIFD	CPFYGEDFYCEILRSFRHLSFYIFD	8.0	9.0	-	-	3466_13:114817595-114817595 G>A_CPFYGEDFYCEILRSFRHLSFYIFD
9:79968388-79968388 T>A	1.0	3466	MELANOMA	-	-	-	-	VPS13A	uc004akr.3,p.L2495I|uc004akq.4,p.L2495I|NM_001018038,p.L2495I|NM_001018037,p.L2456I|NM_033305,p.L2495I|uc004akp.4,p.L2495I|ENST00000376634,p.L2495I|ENST00000357409,p.L2495I|ENST00000376636,p.L2456I|uc004aks.3,p.L2456I|ENST00000360280,p.L2495I|NM_015186,p.L2495I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004aks.3	nonsynonymous SNV	exon53	c.T7366A	p.L2456I	EKTIYLVSFFEGLQRIILFTEDPRV	EKTIYLVSFFEGIQRIILFTEDPRV	7.0	9.0	unscreened	-	3466_9:79968388-79968388 T>A_EKTIYLVSFFEGIQRIILFTEDPRV
1:9097785-9097785 T>A	1.0	3466	MELANOMA	-	-	-	-	SLC2A5	ENST00000536305,p.I397F|NM_003039,p.I456F|ENST00000535586,p.I341F|uc010oaa.2,p.I412F|uc010nzy.2,p.I397F|ENST00000377424,p.I456F|uc010nzz.2,p.I341F|uc001apo.3,p.I456F	retained_intron, protein_coding, processed_transcript	uc010oaa.2	nonsynonymous SNV	exon12	c.A1234T	p.I412F	VFAVICLLTTIYIFLIVPETKAKTF	VFAVICLLTTIYFFLIVPETKAKTF	8.0	7.0	-	-	3466_1:9097785-9097785 T>A_VFAVICLLTTIYFFLIVPETKAKTF
14:68052304-68052304 A>G	1.0	3466	MELANOMA	-	-	-	-	PLEKHH1	ENST00000417684,p.K105R|ENST00000329153,p.K1240R|uc001xjl.1,p.K1240R|uc001xjo.1,p.K105R|uc010tsx.1,p.K105R|uc010tsw.1,p.K808R|uc001xjp.1,p.K105R|uc001xjn.1,p.K755R|NM_020715,p.K1240R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tsx.1	nonsynonymous SNV	exon8	c.A314G	p.K105R	KLFAAQPAQLSSKENALVWIAVNED	KLFAAQPAQLSSRENALVWIAVNED	10.0	4.0	unscreened	-	3466_14:68052304-68052304 A>G_KLFAAQPAQLSSRENALVWIAVNED
5:5200258-5200258 C>T	1.0	3466	MELANOMA	-	-	-	-	ADAMTS16	NM_139056,p.H443Y|uc003jdk.1,p.H443Y|ENST00000511368,p.H443Y|uc003jdl.3,p.H443Y|ENST00000274181,p.H443Y|uc003jdj.1,p.H443Y	retained_intron, protein_coding, processed_transcript	uc003jdl.3	nonsynonymous SNV	exon9	c.C1327T	p.H443Y	IAHESGHNFGMIHDGEGNMCKKSEG	IAHESGHNFGMIYDGEGNMCKKSEG	5.0	2.0	unscreened	-	3466_5:5200258-5200258 C>T_IAHESGHNFGMIYDGEGNMCKKSEG
1:64097343-64097343 C>T	1.0	3466	MELANOMA	-	-	-	-	PGM1	uc010ooz.2,p.S209L|NM_001172818,p.S209L|uc001dbh.3,p.S191L|ENST00000371084,p.S191L|ENST00000371083,p.S209L|NM_002633,p.S191L	protein_coding, processed_transcript	uc010ooz.2	nonsynonymous SNV	exon4	c.C626T	p.S209L	NKFKPFTVEIVDSVEAYATMLRSIF	NKFKPFTVEIVDLVEAYATMLRSIF	8.0	3.0	unscreened	-	3466_1:64097343-64097343 C>T_NKFKPFTVEIVDLVEAYATMLRSIF
12:53926382-53926382 G>A	1.0	3466	MELANOMA	-	-	-	-	ATF7	ENST00000415113,p.P208L|uc010sol.2,p.P208L|ENST00000456903,p.P229L|NM_006856,p.P229L|uc001sdz.3,p.P229L|ENST00000548446,p.P240L|ENST00000591834,p.P229L|ENST00000328463,p.P240L|NM_001130060,p.P208L|ENST00000420353,p.P229L	 processed_transcript,retained_intron, protein_coding	uc010sol.2	nonsynonymous SNV	exon8	c.C623T	p.P208L	SVISLARPVSMVPNIPGIPGPPVNS	SVISLARPVSMVLNIPGIPGPPVNS	9.0	9.0	unscreened	-	3466_12:53926382-53926382 G>A_SVISLARPVSMVLNIPGIPGPPVNS
7:142640612-142640612 C>T	1.0	3466	MELANOMA	-	-	-	-	KEL	ENST00000355265,p.G555E|uc003wcb.3,p.G555E|NM_000420,p.G555E	retained_intron, protein_coding, processed_transcript	uc003wcb.3	nonsynonymous SNV	exon15	c.G1664A	p.G555E	YSVSDHVVVFPAGLLQPPFFHPGYP	YSVSDHVVVFPAELLQPPFFHPGYP	5.0	1.0	unscreened	-	3466_7:142640612-142640612 C>T_YSVSDHVVVFPAELLQPPFFHPGYP
15:91421520-91421520 C>T	1.0	3466	MELANOMA	-	-	-	-	FURIN	uc002bpu.1,p.R276C|ENST00000558794,p.R33C|ENST00000268171,p.R276C|NM_001289823,p.R276C|NM_001289824,p.R276C|NM_002569,p.R276C	retained_intron, protein_coding, nonsense_mediated_decay	uc002bpu.1	nonsynonymous SNV	exon8	c.C826T	p.R276C	DGPARLAEEAFFRGVSQGRGGLGSI	DGPARLAEEAFFCGVSQGRGGLGSI	9.0	6.0	-	-	3466_15:91421520-91421520 C>T_DGPARLAEEAFFCGVSQGRGGLGSI
1:52959328-52959328 G>A	1.0	3466	MELANOMA	-	-	-	-	ZCCHC11	NM_001009881,p.H425Y|NM_015269,p.H425Y|ENST00000257177,p.H425Y|uc001cty.2,p.H425Y|uc009vzf.1,p.H184Y|uc009vze.1,p.H425Y|uc001ctx.2,p.H425Y|uc001cub.3,p.H425Y|ENST00000484723,p.H184Y|ENST00000371544,p.H425Y|ENST00000528642,p.H425Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009vzf.1	nonsynonymous SNV	exon7	c.C550T	p.H184Y	VNIDIKFPPKMNHPDLLIKVLGILK	VNIDIKFPPKMNYPDLLIKVLGILK	9.0	7.0	-	-	3466_1:52959328-52959328 G>A_VNIDIKFPPKMNYPDLLIKVLGILK
2:198285224-198285224 G>A	1.0	3466	MELANOMA	-	-	-	1	SF3B1	uc002uuf.3,p.R115W|uc002uue.3,p.R115W|NM_001005526,p.R115W|uc002uug.3,p.R115W|ENST00000487698,p.R115W|ENST00000335508,p.R115W|ENST00000414963,p.R115W|ENST00000409915,p.R115W|NM_012433,p.R115W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002uug.3	nonsynonymous SNV	exon4	c.C343T	p.R115W	PFAEHRPPKIADREDEYKKHRRTMI	PFAEHRPPKIADWEDEYKKHRRTMI	10.0	2.0	-	-	3466_2:198285224-198285224 G>A_PFAEHRPPKIADWEDEYKKHRRTMI
14:68934946-68934946 G>A	1.0	3466	MELANOMA	-	-	-	1	RAD51B	ENST00000488612,p.E339K|uc001xkg.2,p.E339K|ENST00000390683,p.E339K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xkg.2	nonsynonymous SNV	exon10	c.G1015A	p.E339K	LAPFTSFVYTIKEEGLVLQEFWHIC	LAPFTSFVYTIKKEGLVLQEFWHIC	6.0	6.0	unscreened	-	3466_14:68934946-68934946 G>A_LAPFTSFVYTIKKEGLVLQEFWHIC
19:14513411-14513411 C>T	1.0	3466	MELANOMA	-	-	-	-	CD97	uc002myl.3,p.P396S|ENST00000357355,p.P347S|uc002mym.3,p.P347S|uc002myn.3,p.P303S|NM_078481,p.P396S|NM_001784,p.P303S|NM_001025160,p.P347S|ENST00000242786,p.P396S|ENST00000358600,p.P303S	retained_intron, protein_coding, processed_transcript	uc002myn.3	nonsynonymous SNV	exon10	c.C907T	p.P303S	NWAVAAGAEDPGPAVAGILSIQNMT	NWAVAAGAEDPGSAVAGILSIQNMT	10.0	7.0	unscreened	-	3466_19:14513411-14513411 C>T_NWAVAAGAEDPGSAVAGILSIQNMT
22:40803827-40803827 G>A	1.0	3466	MELANOMA	-	-	-	-	SGSM3	ENST00000454798,p.G453E|NM_015705,p.G520E|ENST00000248929,p.G520E|uc003ayu.1,p.G520E|uc011aot.1,p.G457E|uc011aos.1,p.G453E|NM_001301849,p.G457E	retained_intron, protein_coding	uc011aot.1	nonsynonymous SNV	exon13	c.G1370A	p.G457E	TIVSQKDEHCWVGELNGLRGWFPAK	TIVSQKDEHCWVEELNGLRGWFPAK	9.0	3.0	-	-	3466_22:40803827-40803827 G>A_TIVSQKDEHCWVEELNGLRGWFPAK
4:125592978-125592978 G>A	1.0	3466	MELANOMA	-	-	-	-	ANKRD50	NM_020337,p.S485F|uc010inw.3,p.S485F|uc011cgo.2,p.S306F|ENST00000504087,p.S485F|ENST00000515641,p.S306F|NM_001167882,p.S306F	protein_coding	uc011cgo.2	nonsynonymous SNV	exon3	c.C917T	p.S306F	LWMIWNGTPVRDSLSTLIPKEQEVL	LWMIWNGTPVRDFLSTLIPKEQEVL	9.0	5.0	-	-	3466_4:125592978-125592978 G>A_LWMIWNGTPVRDFLSTLIPKEQEVL
6:31915590-31915590 G>A	1.0	3466	MELANOMA	-	-	-	-	CFB	uc011dor.2,p.G746R|ENST00000556679,p.G746R|uc003nyi.2,p.G244R|NM_001710,p.G244R|ENST00000477310,p.G595R|ENST00000425368,p.G244R|uc003nyj.4,p.G244R|ENST00000456570,p.G746R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dor.2	nonsynonymous SNV	exon17	c.G2236A	p.G746R	EAFLSSLTETIEGVDAEDGHGPGEQ	EAFLSSLTETIERVDAEDGHGPGEQ	7.0	9.0	unscreened	-	3466_6:31915590-31915590 G>A_EAFLSSLTETIERVDAEDGHGPGEQ
19:12826110-12826110 A>G	1.0	3466	MELANOMA	-	-	-	-	TNPO2	NM_001136195,p.F199L|ENST00000588216,p.F199L|ENST00000441499,p.F199L|NM_001136196,p.F199L|ENST00000585886,p.F199L|ENST00000356861,p.F199L|uc002muq.3,p.F199L|uc002muo.3,p.F199L|NM_013433,p.F199L|uc002mup.3,p.F291L|ENST00000592287,p.F199L|uc002mur.3,p.F199L|ENST00000450764,p.F199L|ENST00000425528,p.F199L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay	uc002mur.3	nonsynonymous SNV	exon8	c.T595C	p.F199L	KIRSHAIACVNQFIMDRAQALMDNI	KIRSHAIACVNQLIMDRAQALMDNI	9.0	8.0	-	-	3466_19:12826110-12826110 A>G_KIRSHAIACVNQLIMDRAQALMDNI
12:34179333-34179333 C>T	0.0	3466	MELANOMA	-	-	-	-	ALG10	ENST00000266483,p.S302F|uc001rlm.3,p.S302F|NM_032834,p.S302F	retained_intron, protein_coding, nonsense_mediated_decay	uc001rlm.3	nonsynonymous SNV	exon3	c.C905T	p.S302F	QLFYFFSFTLFFSFPHLLSPSKIKT	QLFYFFSFTLFFFFPHLLSPSKIKT	6.0	3.0	unscreened	-	3466_12:34179333-34179333 C>T_QLFYFFSFTLFFFFPHLLSPSKIKT
1:235383636-235383663 TCTTTTCTTTCAATTTCATCCTCAATAG>-	0.0	3466	MELANOMA	-	-	-	-	ARID4B	ENST00000264183,p.P454fs|uc001hws.4,p.P454fs|uc021pks.1,p.P454fs|ENST00000366603,p.P454fs|uc001hwq.3,p.P454fs|uc001hwt.4,p.P135fs|uc001hwr.3,p.P454fs|ENST00000421364,p.P454fs|ENST00000418304,p.P454fs|ENST00000349213,p.P454fs|NM_016374,p.P454fs|NM_001206794,p.P454fs|NM_031371,p.P454fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pks.1	frameshift deletion	exon15	c.1361_1388del	p.P454fs	EEERNIIPREEKPIEDEIERKENIK	EEERNIIPREEKQILSPLWEVKRIY	10.0	1.0	unscreened	-	3466_1:235383636-235383663 TCTTTTCTTTCAATTTCATCCTCAATAG>-_EEERNIIPREEKQILSPLWEVKRIY
19:54074922-54074922 C>T	1.0	3466	MELANOMA	-	-	-	1	ZNF331	uc002qca.1,p.S25F|ENST00000512387,p.S25F|ENST00000502248,p.S25F|ENST00000513999,p.S25F|uc002qcc.1,p.S25F|NM_001253798,p.S25F|uc002qby.1,p.S25F|ENST00000505949,p.S25F|ENST00000511567,p.S25F|ENST00000511154,p.S25F|uc021uzh.1,p.S25F|NM_001079906,p.S25F|NM_001253800,p.S25F|NM_001079907,p.S25F|ENST00000411977,p.S25F|uc010eqr.1,p.S25F|NM_001253801,p.S25F|uc002qcb.1,p.S25F|ENST00000509585,p.S25F|ENST00000509047,p.S25F|uc021uzg.1,p.S25F|ENST00000513265,p.S25F|uc002qbz.1,p.S25F|ENST00000253144,p.S25F|uc002qcd.1,p.S25F|NM_001253799,p.S25F|ENST00000514022,p.S25F|uc002qbx.1,p.S25F|NM_018555,p.S25F|ENST00000511593,p.S25F|ENST00000449416,p.S25F|ENST00000502616,p.S25F|ENST00000505426,p.S25F|ENST00000514374,p.S25F|ENST00000504493,p.S25F	retained_intron, protein_coding, processed_transcript	uc021uzh.1	nonsynonymous SNV	exon5	c.C74T	p.S25F	IDFSQEEWACLNSAQRDLYWDVMLE	IDFSQEEWACLNFAQRDLYWDVMLE	8.0	8.0	-	-	3466_19:54074922-54074922 C>T_IDFSQEEWACLNFAQRDLYWDVMLE
19:45254531-45254531 C>T	1.0	3466	MELANOMA	-	-	-	1	BCL3	ENST00000164227,p.P102S|uc010xxe.2,p.P102S|NM_005178,p.P102S	retained_intron, protein_coding, processed_transcript	uc010xxe.2	nonsynonymous SNV	exon2	c.C304T	p.P102S	PLYPTRAMGSPFPLVNLPTPLYPMM	PLYPTRAMGSPFSLVNLPTPLYPMM	7.0	1.0	unscreened	-	3466_19:45254531-45254531 C>T_PLYPTRAMGSPFSLVNLPTPLYPMM
22:50191747-50191747 G>A	1.0	3466	MELANOMA	-	-	-	-	BRD1	NM_014577,p.H602Y|ENST00000404760,p.H602Y|uc003biu.4,p.H602Y|ENST00000457780,p.H602Y|uc003biv.3,p.H602Y|ENST00000404034,p.H602Y|ENST00000438393,p.H234Y|ENST00000216267,p.H602Y|ENST00000342989,p.H197Y|uc011arf.2,p.H197Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011arf.2	nonsynonymous SNV	exon7	c.C589T	p.H197Y	PVSLKEVPDYLDHIKHPMDFATMRK	PVSLKEVPDYLDYIKHPMDFATMRK	9.0	6.0	-	-	3466_22:50191747-50191747 G>A_PVSLKEVPDYLDYIKHPMDFATMRK
1:233225846-233225846 G>A	1.0	3466	MELANOMA	-	-	-	-	PCNXL2	uc001hvl.2,p.S1346L|ENST00000258229,p.S1346L|NM_014801,p.S1346L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001hvl.2	nonsynonymous SNV	exon23	c.C4037T	p.S1346L	LSPFLGSVIFITSYVRPVKFWEKNY	LSPFLGSVIFITLYVRPVKFWEKNY	9.0	4.0	-	-	3466_1:233225846-233225846 G>A_LSPFLGSVIFITLYVRPVKFWEKNY
12:50052270-50052270 G>A	1.0	3466	MELANOMA	-	-	ID=COSM431243,COSM1476618;OCCURENCE=1(breast)	-	FMNL3	ENST00000335154,p.P187L|uc001ruv.1,p.P187L|NM_175736,p.P187L|ENST00000550488,p.P187L|ENST00000293590,p.P187L|uc001ruu.1,p.P37L	retained_intron, protein_coding, processed_transcript	uc001ruv.1	nonsynonymous SNV	exon6	c.C560T	p.P187L	IEDLQPPSALSAPFTNSLARSARQS	IEDLQPPSALSALFTNSLARSARQS	9.0	9.0	unscreened	-	3466_12:50052270-50052270 G>A_IEDLQPPSALSALFTNSLARSARQS
13:39338470-39338470 C>T	1.0	3466	MELANOMA	-	-	ID=COSM232359;OCCURENCE=3(skin)	-	FREM2	NM_207361,p.R1765C|ENST00000280481,p.R1765C|uc001uwv.3,p.R1765C	protein_coding, processed_transcript	uc001uwv.3	nonsynonymous SNV	exon3	c.C5293T	p.R1765C	DGGGNKLTYQNFRLNWAWISFEKEY	DGGGNKLTYQNFCLNWAWISFEKEY	6.0	9.0	unscreened	-	3466_13:39338470-39338470 C>T_DGGGNKLTYQNFCLNWAWISFEKEY
19:19790600-19790600 C>T	1.0	3466	MELANOMA	-	-	-	-	ZNF101	ENST00000592502,p.L268F|uc002nni.2,p.L268F|ENST00000318110,p.L268F|NM_001300949,p.L148F|uc010ecg.2,p.L148F|uc002nnj.2,p.L148F|ENST00000415784,p.L148F|NM_033204,p.L268F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ecg.2	nonsynonymous SNV	exon5	c.C442T	p.L148F	KQCGKAFISAGYLRTHEIRSHALEK	KQCGKAFISAGYFRTHEIRSHALEK	6.0	3.0	unscreened	-	3466_19:19790600-19790600 C>T_KQCGKAFISAGYFRTHEIRSHALEK
5:55252054-55252054 G>A	1.0	3466	MELANOMA	-	-	-	1	IL6ST	NM_175767,p.S328F|ENST00000522633,p.S328F|ENST00000536319,p.S328F|ENST00000381287,p.S328F|uc003jqr.3,p.S328F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jqr.3	nonsynonymous SNV	exon9	c.C983T	p.S328F	EASGITYEDNIASF	EASGITYEDNIAFF	10.0	9.0	unscreened	-	3466_5:55252054-55252054 G>A_EASGITYEDNIAFF
3:4829716-4829716 G>A	1.0	3466	MELANOMA	-	-	-	-	ITPR1	NM_002222,p.R2171Q|ENST00000357086,p.R2186Q|ENST00000302640,p.R2219Q|ENST00000423119,p.R2186Q|ENST00000456211,p.R2171Q|NM_001168272,p.R2219Q|ENST00000443694,p.R2219Q|ENST00000354582,p.R2219Q|NM_001099952,p.R2186Q|uc021wsi.1,p.R2186Q|uc021wsj.1,p.R2171Q|uc003bqc.3,p.R2219Q	retained_intron, protein_coding, processed_transcript	uc021wsj.1	nonsynonymous SNV	exon48	c.G6512A	p.R2171Q	SICEFLTKESKLRIYYTTERDEQGS	SICEFLTKESKLQIYYTTERDEQGS	8.0	4.0	unscreened	-	3466_3:4829716-4829716 G>A_SICEFLTKESKLQIYYTTERDEQGS
1:186084058-186084058 G>A	1.0	3466	MELANOMA	-	-	ID=COSM1320644;OCCURENCE=1(ovary)	-	HMCN1	ENST00000271588,p.R3795Q|ENST00000367492,p.R3795Q|uc001grq.1,p.R3795Q|NM_031935,p.R3795Q	protein_coding, processed_transcript	uc001grq.1	nonsynonymous SNV	exon74	c.G11384A	p.R3795Q	CMATNAAGTDRRRIDLQVHVPPSIA	CMATNAAGTDRRQIDLQVHVPPSIA	9.0	3.0	unscreened	-	3466_1:186084058-186084058 G>A_CMATNAAGTDRRQIDLQVHVPPSIA
22:31333588-31333588 G>A	1.0	3466	MELANOMA	-	-	-	-	MORC2	ENST00000397641,p.P494S|ENST00000215862,p.P432S|NM_014941,p.P432S|uc003aje.1,p.P432S	retained_intron, protein_coding, processed_transcript	uc003aje.1	nonsynonymous SNV	exon16	c.C1294T	p.P432S	ELRYKRRRAMEIPTTIQCDLCLKWR	ELRYKRRRAMEISTTIQCDLCLKWR	8.0	3.0	-	-	3466_22:31333588-31333588 G>A_ELRYKRRRAMEISTTIQCDLCLKWR
14:69352244-69352244 G>A	1.0	3466	MELANOMA	-	-	-	-	ACTN1	ENST00000544964,p.S18L|ENST00000394419,p.S428L|uc001xkn.3,p.S428L|uc010ttc.2,p.S13L|uc001xko.1,p.S363L|uc001xkl.3,p.S428L|ENST00000538545,p.S428L|ENST00000438964,p.S428L|ENST00000193403,p.S428L|uc010ttb.2,p.S363L|uc001xkm.3,p.S428L|uc001xkk.3,p.S24L|NM_001102,p.S428L|ENST00000376839,p.S363L|NM_001130004,p.S428L|NM_001130005,p.S428L|uc010ttd.1,p.S407L	retained_intron, protein_coding, processed_transcript	uc010ttd.1	nonsynonymous SNV	exon12	c.C1220T	p.S407L	MLRQKDYETATLSEIKALLKKHEAF	MLRQKDYETATLLEIKALLKKHEAF	10.0	4.0	-	-	3466_14:69352244-69352244 G>A_MLRQKDYETATLLEIKALLKKHEAF
17:74081767-74081767 G>A	1.0	3466	MELANOMA	-	-	-	-	EXOC7	ENST00000589210,p.S536F|ENST00000467929,p.S508F|ENST00000411744,p.S528F|uc010dgv.2,p.S461F|uc002jqq.3,p.S536F|NM_001145299,p.S559F|NM_001145297,p.S587F|uc010wsx.2,p.S528F|ENST00000405575,p.S559F|uc002jqs.3,p.S587F|uc010wsv.2,p.S508F|NM_001282313,p.S508F|NM_001013839,p.S536F|uc010wsw.2,p.S559F|NM_015219,p.S505F|ENST00000335146,p.S587F|uc002jqr.3,p.S505F|ENST00000332065,p.S505F|ENST00000607838,p.S559F|NM_001145298,p.S528F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wsx.2	nonsynonymous SNV	exon14	c.C1583T	p.S528F	IFLHNNYNYILKSLEKSELIQLVAV	IFLHNNYNYILKFLEKSELIQLVAV	8.0	9.0	-	-	3466_17:74081767-74081767 G>A_IFLHNNYNYILKFLEKSELIQLVAV
1:243471431-243471431 C>T	1.0	3466	MELANOMA	-	-	-	-	SDCCAG8	uc001hzx.3,p.S106F|ENST00000355875,p.S251F|uc001hzw.3,p.S294F|ENST00000343783,p.S149F|ENST00000435549,p.S74F|NM_006642,p.S294F|uc010pyk.2,p.S149F|uc010pyl.2,p.S106F|ENST00000391846,p.S294F|ENST00000366541,p.S294F	protein_coding, processed_transcript	uc010pyl.2	nonsynonymous SNV	exon4	c.C317T	p.S106F	LCLKCAQHEAVLSQTHTNVHMQTIE	LCLKCAQHEAVLFQTHTNVHMQTIE	10.0	8.0	-	-	3466_1:243471431-243471431 C>T_LCLKCAQHEAVLFQTHTNVHMQTIE
2:16743322-16743322 T>G	1.0	3466	MELANOMA	-	-	-	-	FAM49A	uc002rck.2,p.K129T|ENST00000381323,p.K129T|ENST00000355549,p.K129T|uc010exm.2,p.K129T|NM_030797,p.K129T|ENST00000406434,p.K129T	retained_intron, protein_coding	uc010exm.2	nonsynonymous SNV	exon5	c.A386C	p.K129T	PTQHLEREQALAKEFAEILHFTLRF	PTQHLEREQALATEFAEILHFTLRF	5.0	8.0	unscreened	-	3466_2:16743322-16743322 T>G_PTQHLEREQALATEFAEILHFTLRF
11:5730468-5730468 G>A	1.0	3466	MELANOMA	-	-	-	-	TRIM22	uc010qzm.2,p.G191R|NM_001199573,p.G359R|uc001mbr.3,p.G363R|NM_006074,p.G363R|uc009yes.3,p.G359R|ENST00000379965,p.G363R	retained_intron, protein_coding, nonsense_mediated_decay	uc010qzm.2	nonsynonymous SNV	exon7	c.G571A	p.G191R	SSGKYYWEVDVSGKIAWILGVHSKI	SSGKYYWEVDVSRKIAWILGVHSKI	10.0	3.0	-	-	3466_11:5730468-5730468 G>A_SSGKYYWEVDVSRKIAWILGVHSKI
2:86317013-86317013 G>A	1.0	3466	MELANOMA	-	-	-	-	POLR1A	ENST00000263857,p.R158W|uc002sqs.3,p.R158W|NM_015425,p.R158W|ENST00000409681,p.R158W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002sqs.3	nonsynonymous SNV	exon4	c.C472T	p.R158W	LEENADPSASEIREELEQYTTEIVQ	LEENADPSASEIWEELEQYTTEIVQ	6.0	3.0	unscreened	Snp within 36 nucleotides, 2:86317037-86317037 G>C, residue 5 P>A PR	3466_2:86317013-86317013 G>A_LEENADPSASEIWEELEQYTTEIVQ
6:41773632-41773632 G>A	1.0	3466	MELANOMA	-	-	-	-	USP49	NM_018561,p.L364F|NM_001286554,p.L364F|ENST00000297229,p.L364F|ENST00000373010,p.L364F|ENST00000394253,p.L364F|uc003ori.3,p.L364F|ENST00000373009,p.L364F|ENST00000373006,p.L364F	protein_coding, nonsense_mediated_decay	uc003ori.3	nonsynonymous SNV	exon4	c.C1090T	p.L364F	SKHISLCRELHTLFRVMWSGKWALV	SKHISLCRELHTFFRVMWSGKWALV	5.0	9.0	unscreened	-	3466_6:41773632-41773632 G>A_SKHISLCRELHTFFRVMWSGKWALV
16:11071119-11071119 G>A	1.0	3466	MELANOMA	-	-	-	-	CLEC16A	uc021tcy.1,p.E256K|NM_001243403,p.E254K|NM_015226,p.E256K|uc002dan.4,p.E254K|ENST00000409552,p.E254K|ENST00000409790,p.E256K	retained_intron, protein_coding, processed_transcript	uc021tcy.1	nonsynonymous SNV	exon8	c.G766A	p.E256K	HRNRGKLSDLVAEHLDHLHYLNDIL	HRNRGKLSDLVAKHLDHLHYLNDIL	7.0	7.0	-	-	3466_16:11071119-11071119 G>A_HRNRGKLSDLVAKHLDHLHYLNDIL
4:160273900-160273900 C>T	1.0	3466	MELANOMA	-	-	-	-	RAPGEF2	uc003iqg.4,p.S1149F|ENST00000264431,p.S1149F|NM_014247,p.S1149F	retained_intron, protein_coding, processed_transcript	uc003iqg.4	nonsynonymous SNV	exon21	c.C3446T	p.S1149F	VDNFSDSGHSEISSRSSIVSNSSFD	VDNFSDSGHSEIFSRSSIVSNSSFD	9.0	4.0	-	-	3466_4:160273900-160273900 C>T_VDNFSDSGHSEIFSRSSIVSNSSFD
1:39806205-39806205 C>T	1.0	3466	MELANOMA	-	-	-	-	MACF1	uc031pmd.1,p.T1856I|ENST00000372915,p.T3421I|ENST00000289893,p.T1856I|ENST00000567887,p.T3453I|ENST00000564288,p.T3416I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pmd.1	nonsynonymous SNV	exon3	c.C5567T	p.T1856I	AKVLERELKDLTTLVSQELECVNQI	AKVLERELKDLTILVSQELECVNQI	10.0	2.0	unscreened	-	3466_1:39806205-39806205 C>T_AKVLERELKDLTILVSQELECVNQI
11:64811700-64811700 C>T	1.0	3466	MELANOMA	-	-	-	-	SAC3D1	ENST00000398846,p.S193L|NM_013299,p.S193L|uc001ocm.3,p.S193L|ENST00000531072,p.S193L	protein_coding, processed_transcript	uc001ocm.3	nonsynonymous SNV	exon2	c.C578T	p.S193L	AFQGLFLLYNLGSVEALHEVLQLPA	AFQGLFLLYNLGLVEALHEVLQLPA	3.0	3.0	unscreened	-	3466_11:64811700-64811700 C>T_AFQGLFLLYNLGLVEALHEVLQLPA
7:72891882-72891882 G>A	1.0	3466	MELANOMA	-	-	-	-	BAZ1B	NM_032408,p.L637F|ENST00000404251,p.L637F|uc003tyc.3,p.L637F|ENST00000339594,p.L637F	retained_intron, protein_coding	uc003tyc.3	nonsynonymous SNV	exon7	c.C1909T	p.L637F	LPDAQYPITAVSLMEALSADKGGFL	LPDAQYPITAVSFMEALSADKGGFL	10.0	1.0	unscreened	-	3466_7:72891882-72891882 G>A_LPDAQYPITAVSFMEALSADKGGFL
1:180062688-180062688 C>T	1.0	3466	MELANOMA	-	-	-	-	CEP350	uc001gnw.1,p.P240L|uc001gnv.3,p.P618L|NM_014810,p.P2483L|ENST00000367607,p.P2483L|uc009wxl.2,p.P2482L|uc001gnt.3,p.P2483L|uc001gnx.1,p.P240L	protein_coding, processed_transcript, nonsense_mediated_decay	uc009wxl.2	nonsynonymous SNV	exon33	c.C7445T	p.P2482L	SDVEHEQQVTESPSLASVPTADELF	SDVEHEQQVTESLSLASVPTADELF	8.0	2.0	unscreened	-	3466_1:180062688-180062688 C>T_SDVEHEQQVTESLSLASVPTADELF
6:136597122-136597122 G>A	0.0	3466	MELANOMA	-	-	-	2	BCLAF1	ENST00000533621,p.L96F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000533621	nonsynonymous SNV	exon3	c.C286T	p.L96F	EESRVFLLDRVPLYTRIWMHEKSLP	EESRVFLLDRVPFYTRIWMHEKSLP	10.0	1.0	unscreened	-	3466_6:136597122-136597122 G>A_EESRVFLLDRVPFYTRIWMHEKSLP
11:57319895-57319895 G>A	1.0	3466	MELANOMA	-	-	ID=COSM543889;OCCURENCE=1(lung)	-	UBE2L6	NM_004223,p.P133L|NM_198183,p.P67L|ENST00000287156,p.P133L|uc001nko.2,p.P67L|uc001nkn.2,p.P133L|ENST00000340573,p.P67L	retained_intron, protein_coding	uc001nko.2	nonsynonymous SNV	exon4	c.C200T	p.P67L	LRMDLADLLTQNPELFRKNAEEFTL	LRMDLADLLTQNLELFRKNAEEFTL	9.0	2.0	-	-	3466_11:57319895-57319895 G>A_LRMDLADLLTQNLELFRKNAEEFTL
19:14030631-14030631 G>C	1.0	3466	MELANOMA	-	-	-	-	CC2D1A	uc002mxq.1,p.G53A|uc002mxo.2,p.G408A|uc002mxn.2,p.G307A|NM_017721,p.G408A|uc002mxp.2,p.G408A|ENST00000589606,p.G408A|ENST00000318003,p.G408A	retained_intron, protein_coding, nonsense_mediated_decay	uc002mxq.1	nonsynonymous SNV	exon5	c.G158C	p.G53A	RAVDVAELPVPPGFPPIQGLEATKP	RAVDVAELPVPPAFPPIQGLEATKP	8.0	4.0	unscreened	-	3466_19:14030631-14030631 G>C_RAVDVAELPVPPAFPPIQGLEATKP
13:39587102-39587102 G>A	1.0	3466	MELANOMA	-	-	-	-	PROSER1	uc001uwy.4,p.P763S|NM_025138,p.P763S|ENST00000352251,p.P763S|ENST00000350125,p.P741S	protein_coding, processed_transcript	uc001uwy.4	nonsynonymous SNV	exon11	c.C2287T	p.P763S	LSASAPVSAAPFPLNLSTAVPSLFS	LSASAPVSAAPFSLNLSTAVPSLFS	7.0	9.0	unscreened	-	3466_13:39587102-39587102 G>A_LSASAPVSAAPFSLNLSTAVPSLFS
12:91502314-91502314 T>C	1.0	3466	MELANOMA	-	-	-	-	LUM	NM_002345,p.K148R|ENST00000266718,p.K148R|uc001tbm.3,p.K148R	protein_coding, processed_transcript	uc001tbm.3	nonsynonymous SNV	exon2	c.A443G	p.K148R	PKSLEDLQLTHNKITKLGSFEGLVN	PKSLEDLQLTHNRITKLGSFEGLVN	10.0	9.0	-	-	3466_12:91502314-91502314 T>C_PKSLEDLQLTHNRITKLGSFEGLVN
5:43649408-43649408 C>T	1.0	3466	MELANOMA	-	-	-	-	NNT	ENST00000344920,p.S535L|NM_182977,p.S535L|uc003joe.3,p.S535L|uc003jof.3,p.S535L|NM_012343,p.S535L|ENST00000264663,p.S535L|ENST00000512996,p.S404L	retained_intron, protein_coding, nonsense_mediated_decay	uc003jof.3	nonsynonymous SNV	exon11	c.C1604T	p.S535L	LHSPLMSVTNAISGLTAVGGLALMG	LHSPLMSVTNAILGLTAVGGLALMG	9.0	1.0	-	-	3466_5:43649408-43649408 C>T_LHSPLMSVTNAILGLTAVGGLALMG
1:9109243-9109243 G>A	0.0	3466	MELANOMA	-	-	-	-	SLC2A5	uc010nzy.2,p.S11F|ENST00000536305,p.S11F	retained_intron, protein_coding, processed_transcript	uc010nzy.2	nonsynonymous SNV	exon1	c.C32T	p.S11F	MLELHSLTASSIMRVLIMRAPLR	MLELHSLTASFIMRVLIMRAPLR	8.0	8.0	-	-	3466_1:9109243-9109243 G>A_MLELHSLTASFIMRVLIMRAPLR
22:24217313-24217313 C>T	1.0	3466	MELANOMA	-	-	-	-	SLC2A11	ENST00000436643,p.P111L	 processed_transcript,retained_intron, protein_coding, nonsense_mediated_decay	ENST00000436643	nonsynonymous SNV	exon4	c.C332T	p.P111L	SFCVFHFPQGRSPSW	SFCVFHFPQGRSLSW	6.0	2.0	unscreened	-	3466_22:24217313-24217313 C>T_SFCVFHFPQGRSLSW
2:3469459-3469459 C>T	1.0	3466	MELANOMA	-	-	-	-	TRAPPC12	ENST00000382110,p.S590F|uc010ewm.1,p.S596F|uc002qxm.1,p.S590F|NM_016030,p.S590F|uc002qxn.1,p.S590F|ENST00000324266,p.S590F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ewm.1	nonsynonymous SNV	exon8	c.C1787T	p.S596F	QEPQLLSGIGRISLQIGDIKTAEKY	QEPQLLSGIGRIFLQIGDIKTAEKY	9.0	4.0	-	-	3466_2:3469459-3469459 C>T_QEPQLLSGIGRIFLQIGDIKTAEKY
7:65705893-65705893 C>T	1.0	3466	MELANOMA	-	-	-	-	TPST1	ENST00000304842,p.P161S|uc003tuw.3,p.P161S|NM_003596,p.P161S	protein_coding, processed_transcript	uc003tuw.3	nonsynonymous SNV	exon2	c.C481T	p.P161S	HGEPAPYLCNKDPFALKSLTYLSRL	HGEPAPYLCNKDSFALKSLTYLSRL	8.0	9.0	-	-	3466_7:65705893-65705893 C>T_HGEPAPYLCNKDSFALKSLTYLSRL
16:84120985-84120985 G>A	1.0	3466	MELANOMA	-	-	-	-	MBTPS1	ENST00000570012,p.S112F|NM_003791,p.S371F|uc002fhi.3,p.S371F|ENST00000343411,p.S371F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002fhi.3	nonsynonymous SNV	exon9	c.C1112T	p.S371F	GGIDFEDNIARFSSRGMTTWELPGG	GGIDFEDNIARFFSRGMTTWELPGG	9.0	1.0	-	-	3466_16:84120985-84120985 G>A_GGIDFEDNIARFFSRGMTTWELPGG
7:105255237-105255237 G>A	1.0	3466	MELANOMA	-	-	-	-	ATXN7L1	uc003vdg.4,p.P175L|ENST00000484475,p.P216L|ENST00000388807,p.P175L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vdg.4	nonsynonymous SNV	exon4	c.C524T	p.P175L	LSARKIPPAADSPLPSPAAHITTPV	LSARKIPPAADSLLPSPAAHITTPV	6.0	1.0	unscreened	-	3466_7:105255237-105255237 G>A_LSARKIPPAADSLLPSPAAHITTPV
5:35641538-35641538 C>T	1.0	3466	MELANOMA	-	-	ID=COSM738000;OCCURENCE=1(lung)	-	SPEF2	ENST00000509059,p.S56L|ENST00000510777,p.S56L|ENST00000356031,p.S56L|ENST00000282469,p.S56L|uc003jjq.4,p.S56L|NM_144722,p.S56L|NM_024867,p.S56L|uc003jjo.3,p.S56L|uc003jjn.1,p.S56L|ENST00000440995,p.S56L|ENST00000505847,p.S56L	retained_intron, protein_coding, nonsense_mediated_decay	uc003jjq.4	nonsynonymous SNV	exon3	c.C167T	p.S56L	QDDFSEFLDSRVSSAKLNNFSRLEP	QDDFSEFLDSRVLSAKLNNFSRLEP	6.0	8.0	unscreened	-	3466_5:35641538-35641538 C>T_QDDFSEFLDSRVLSAKLNNFSRLEP
2:127826606-127826606 G>A	1.0	3466	MELANOMA	-	-	-	-	BIN1	ENST00000352848,p.S138L|uc002tny.2,p.S138L|NM_139347,p.S138L|uc002toc.2,p.S138L|uc002tnu.2,p.S138L|ENST00000393040,p.S138L|ENST00000316724,p.S138L|NM_004305,p.S138L|uc002tnx.2,p.S138L|uc002tnt.2,p.S138L|NM_139343,p.S138L|ENST00000348750,p.S138L|NM_139348,p.S138L|ENST00000351659,p.S138L|NM_139350,p.S138L|uc002toa.2,p.S138L|NM_139349,p.S138L|uc010yzg.2,p.S138L|NM_139346,p.S138L|NM_139345,p.S138L|ENST00000393041,p.S138L|ENST00000259238,p.S138L|uc002tob.2,p.S138L|NM_139351,p.S138L|NM_139344,p.S138L|uc002tnw.2,p.S138L|uc002tnv.2,p.S138L|ENST00000409400,p.S138L|ENST00000376113,p.S138L|uc010yzf.2,p.S114L|ENST00000357970,p.S138L|ENST00000346226,p.S138L|uc002tns.2,p.S138L|uc002tnz.2,p.S138L	retained_intron, protein_coding, processed_transcript	uc010yzg.2	nonsynonymous SNV	exon6	c.C413T	p.S138L	MDTYLGQFPDIKSRIAKRGRKLVDY	MDTYLGQFPDIKLRIAKRGRKLVDY	6.0	2.0	unscreened	-	3466_2:127826606-127826606 G>A_MDTYLGQFPDIKLRIAKRGRKLVDY
4:89859312-89859312 G>A	1.0	3466	MELANOMA	-	-	-	-	FAM13A	ENST00000264344,p.T229I|uc003hsf.2,p.T20I|ENST00000511976,p.T20I|uc003hsh.1,p.T43I|ENST00000509094,p.T229I|NM_014883,p.T229I|uc003hse.2,p.T229I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003hsh.1	nonsynonymous SNV	exon6	c.C128T	p.T43I	NKIMAKILENYNTLFEVEYTENDHL	NKIMAKILENYNILFEVEYTENDHL	5.0	5.0	unscreened	-	3466_4:89859312-89859312 G>A_NKIMAKILENYNILFEVEYTENDHL
7:105255237-105255237 G>A	1.0	3466	MELANOMA	-	-	-	-	ATXN7L1	uc003vdh.4,p.P299L|uc003vde.2,p.P515L|ENST00000419735,p.P515L|ENST00000472195,p.P391L|NM_020725,p.P515L|NM_138495,p.P391L|uc003vdf.2,p.P391L|ENST00000477775,p.P391L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vdh.4	nonsynonymous SNV	exon9	c.C896T	p.P299L	QMWKKIPPAADSPLPSPAAHITTPV	QMWKKIPPAADSLLPSPAAHITTPV	6.0	1.0	unscreened	-	3466_7:105255237-105255237 G>A_QMWKKIPPAADSLLPSPAAHITTPV
X:117786011-117786011 A>C	1.0	3466	MELANOMA	-	-	-	-	DOCK11	uc004eqp.2,p.N1556H|NM_144658,p.N1556H|uc004eqq.2,p.N1335H|ENST00000276204,p.N1556H|ENST00000276202,p.N1556H	protein_coding, processed_transcript	uc004eqq.2	nonsynonymous SNV	exon37	c.A4003C	p.N1335H	GSRFQESLFIINNFANSDRPMKATA	GSRFQESLFIINHFANSDRPMKATA	5.0	9.0	unscreened	-	3466_X:117786011-117786011 A>C_GSRFQESLFIINHFANSDRPMKATA
16:30106700-30106700 G>-	1.0	3466	MELANOMA	-	-	ID=COSM1377339;OCCURENCE=1(large_intestine)	-	YPEL3	ENST00000398841,p.P35fs|uc002dwl.3,p.P35fs|NM_031477,p.P35fs|uc002dwn.1,p.P35fs|ENST00000562641,p.P35fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dwn.1	frameshift deletion	exon1	c.104delC	p.P35fs	SPWAAPRVGPLPPAPAMVRISKPKT	SPWAAPRVGPLPRPPPWCGFQSPRRFRPTWMIVTGGIAVPTAALTWPTTTTSSPSPSRAVRGVPTSSTQW	8.0	1.0	unscreened	-	3466_16:30106700-30106700 G>-_SPWAAPRVGPLPRPPPWCGFQSPRRFRPTWMIVTGGIAVPTAALTWPTTTTSSPSPSRAVRGVPTSSTQW
1:100358026-100358026 C>T	1.0	3466	MELANOMA	-	-	-	-	AGL	NM_000642,p.S1041L|ENST00000370161,p.S1025L|ENST00000361522,p.S1024L|uc001dsk.1,p.S1041L|uc001dsi.1,p.S1041L|uc001dsl.1,p.S1041L|uc001dsm.1,p.S1025L|NM_000646,p.S1025L|NM_000644,p.S1041L|ENST00000370165,p.S1041L|uc001dsj.1,p.S1041L|ENST00000361302,p.S1025L|NM_000643,p.S1041L|ENST00000294724,p.S1041L|uc001dsn.1,p.S1024L|NM_000645,p.S1024L|NM_000028,p.S1041L|ENST00000361915,p.S1041L|ENST00000370163,p.S1041L	protein_coding, processed_transcript	uc001dsn.1	nonsynonymous SNV	exon22	c.C3071T	p.S1024L	FVQNGSTFVKHLSLGSVQLCGVGKF	FVQNGSTFVKHLLLGSVQLCGVGKF	5.0	2.0	unscreened	-	3466_1:100358026-100358026 C>T_FVQNGSTFVKHLLLGSVQLCGVGKF
12:106717440-106717440 T>G	0.0	3466	MELANOMA	-	-	-	-	TCP11L2	ENST00000546625,p.M263R|uc001tll.3,p.M263R	protein_coding, processed_transcript, nonsense_mediated_decay	uc001tll.3	nonsynonymous SNV	exon6	c.T788G	p.M263R	EILEETPSEYNIMCIYIEIRLK	EILEETPSEYNIRCIYIEIRLK	6.0	1.0	unscreened	-	3466_12:106717440-106717440 T>G_EILEETPSEYNIRCIYIEIRLK
5:156788484-156788484 G>A	1.0	3466	MELANOMA	-	-	-	-	CYFIP2	ENST00000318218,p.E998K|ENST00000522463,p.E777K|uc011ddo.2,p.E777K|ENST00000435847,p.E672K|uc003lwt.3,p.E876K|NM_001291722,p.E998K|ENST00000377576,p.E973K|ENST00000521420,p.E947K|ENST00000541131,p.E898K|NM_001291721,p.E947K|ENST00000347377,p.E973K|NM_014376,p.E973K|NM_001037333,p.E973K|uc011ddn.2,p.E947K|uc011ddp.2,p.E707K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ddp.2	nonsynonymous SNV	exon19	c.G2119A	p.E707K	LPRHEYGSPGILEFFHHQLKDIIEY	LPRHEYGSPGILKFFHHQLKDIIEY	5.0	9.0	unscreened	-	3466_5:156788484-156788484 G>A_LPRHEYGSPGILKFFHHQLKDIIEY
19:35504492-35504492 C>T	1.0	3466	MELANOMA	-	-	-	-	GRAMD1A	uc002nxi.1,p.S343F|ENST00000317991,p.S256F|ENST00000504615,p.S22F|uc002nxk.2,p.S249F|uc002nxl.2,p.S22F|uc010xse.1,p.S256F|ENST00000599564,p.S343F|NM_001136199,p.S249F|NM_020895,p.S256F|ENST00000411896,p.S249F|uc010xsf.1,p.S261F	retained_intron, protein_coding, nonsense_mediated_decay	uc010xsf.1	nonsynonymous SNV	exon9	c.C782T	p.S261F	EVGDVIALSDITSSGAADRSQEPSP	EVGDVIALSDITFSGAADRSQEPSP	9.0	3.0	-	-	3466_19:35504492-35504492 C>T_EVGDVIALSDITFSGAADRSQEPSP
2:230643660-230643660 G>A	1.0	3466	MELANOMA	-	-	-	-	TRIP12	uc021vxw.1,p.S1672F|ENST00000389044,p.S1687F|uc002vpy.1,p.S1369F|ENST00000283943,p.S1639F|NM_001284215,p.S1672F|NM_001284214,p.S1687F|NM_001284216,p.S1369F|ENST00000389045,p.S1369F|uc002vpw.1,p.S1639F|NM_004238,p.S1639F|uc002vpx.1,p.S1687F	retained_intron, protein_coding	uc021vxw.1	nonsynonymous SNV	exon33	c.C5015T	p.S1672F	GLGPTLEFYALVSQELQRADLGLWR	GLGPTLEFYALVFQELQRADLGLWR	10.0	7.0	-	-	3466_2:230643660-230643660 G>A_GLGPTLEFYALVFQELQRADLGLWR
4:15559075-15559075 G>A	1.0	3466	MELANOMA	-	-	ID=COSM3714820,COSM3714819;OCCURENCE=1(upper_aerodigestive_tract)	-	CC2D2A	ENST00000503292,p.R925Q|ENST00000424120,p.R925Q|uc003gnx.3,p.R876Q|uc010idv.2,p.R925Q|NM_001080522,p.R925Q|ENST00000389652,p.R876Q|ENST00000413206,p.R925Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010idv.2	nonsynonymous SNV	exon22	c.G2774A	p.R925Q	LLHLRSQEVPEFRNYKQVPVYDREI	LLHLRSQEVPEFQNYKQVPVYDREI	6.0	9.0	unscreened	-	3466_4:15559075-15559075 G>A_LLHLRSQEVPEFQNYKQVPVYDREI
12:72013756-72013756 G>A	1.0	3466	MELANOMA	-	-	-	-	ZFC3H1	ENST00000378743,p.P1667S|NM_144982,p.P1667S|uc001swo.2,p.P1667S|ENST00000552994,p.P1667S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001swo.2	nonsynonymous SNV	exon26	c.C4999T	p.P1667S	ARAVWLTAFEKNPQNAEVFYHMCKF	ARAVWLTAFEKNSQNAEVFYHMCKF	10.0	9.0	-	-	3466_12:72013756-72013756 G>A_ARAVWLTAFEKNSQNAEVFYHMCKF
16:1507723-1507723 G>A	1.0	3466	MELANOMA	-	-	-	-	CLCN7	uc002clw.3,p.S213F|NM_001114331,p.S213F|NM_001287,p.S237F|ENST00000569851,p.S179F|uc002clv.3,p.S237F|ENST00000448525,p.S213F|ENST00000382745,p.S237F|ENST00000262318,p.S213F	retained_intron, protein_coding, processed_transcript	uc002clw.3	nonsynonymous SNV	exon7	c.C638T	p.S213F	KTLVIKVSGVILSVVGGLAVGKEGP	KTLVIKVSGVILFVVGGLAVGKEGP	9.0	1.0	-	-	3466_16:1507723-1507723 G>A_KTLVIKVSGVILFVVGGLAVGKEGP
7:288297-288297 C>T	1.0	3466	MELANOMA	-	-	-	-	FAM20C	uc003sip.3,p.R325W|ENST00000313766,p.R325W|NM_020223,p.R325W	retained_intron, protein_coding, processed_transcript	uc003sip.3	nonsynonymous SNV	exon5	c.C973T	p.R325W	AAFHLDRILDFRRVPPVAGRMVNMT	AAFHLDRILDFRWVPPVAGRMVNMT	9.0	9.0	-	-	3466_7:288297-288297 C>T_AAFHLDRILDFRWVPPVAGRMVNMT
11:113699950-113699950 G>A	1.0	3466	MELANOMA	-	-	-	-	USP28	ENST00000538475,p.P107L|uc010rwy.2,p.P218L|uc001pog.3,p.P51L|ENST00000003302,p.P343L|uc001poj.3,p.P343L|ENST00000537706,p.P343L|ENST00000260188,p.P343L|NM_001301029,p.P218L|uc001poh.3,p.P343L|NM_020886,p.P343L|ENST00000544967,p.P51L|ENST00000545540,p.P218L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rwy.2	nonsynonymous SNV	exon8	c.C653T	p.P218L	EGAMVEGDVELLPSDHSVKYGQERW	EGAMVEGDVELLLSDHSVKYGQERW	7.0	6.0	unscreened	-	3466_11:113699950-113699950 G>A_EGAMVEGDVELLLSDHSVKYGQERW
1:36316576-36316576 C>T	1.0	3466	MELANOMA	-	-	-	-	AGO4	ENST00000373210,p.S800F|NM_017629,p.S800F|uc001bzj.2,p.S800F	protein_coding, processed_transcript	uc001bzj.2	nonsynonymous SNV	exon17	c.C2399T	p.S800F	LCHTYVRCTRSVSIPAPAYYARLVA	LCHTYVRCTRSVFIPAPAYYARLVA	6.0	7.0	-	-	3466_1:36316576-36316576 C>T_LCHTYVRCTRSVFIPAPAYYARLVA
6:152740798-152740798 G>A	0.0	3466	MELANOMA	-	-	-	-	SYNE1	ENST00000367255,p.S1776F|uc003qot.4,p.S1783F|ENST00000423061,p.S1783F|uc010kjb.1,p.S1759F|uc003qou.4,p.S1776F|NM_182961,p.S1776F|ENST00000265368,p.S1776F|ENST00000448038,p.S1783F|NM_033071,p.S1783F|ENST00000341594,p.S1813F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kjb.1	nonsynonymous SNV	exon38	c.C5276T	p.S1759F	VAEHQQFDELLLSFSVWIKLFLSEL	VAEHQQFDELLLFFSVWIKLFLSEL	9.0	9.0	unscreened	-	3466_6:152740798-152740798 G>A_VAEHQQFDELLLFFSVWIKLFLSEL
2:182322515-182322515 A>G	1.0	3466	MELANOMA	-	-	-	-	ITGA4	uc002unu.3,p.Q45R|ENST00000339307,p.Q45R|ENST00000233573,p.Q45R|ENST00000397033,p.Q45R|NM_000885,p.Q45R|uc010zfl.1,p.Q45R	retained_intron, protein_coding, processed_transcript	uc010zfl.1	nonsynonymous SNV	exon1	c.A134G	p.Q45R	PYNVDTESALLYQGPHNTLFGYSVV	PYNVDTESALLYRGPHNTLFGYSVV	10.0	1.0	-	-	3466_2:182322515-182322515 A>G_PYNVDTESALLYRGPHNTLFGYSVV
22:50688090-50688090 G>A	1.0	3466	MELANOMA	-	-	-	-	HDAC10	uc003bkh.3,p.S8F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003bkh.3	nonsynonymous SNV	exon5	c.C23T	p.S8F	MCTMARGSSISLRMTPASFT	MCTMARGFSISLRMTPASFT	5.0	6.0	-	-	3466_22:50688090-50688090 G>A_MCTMARGFSISLRMTPASFT
5:145317829-145317829 C>T	1.0	3466	MELANOMA	-	-	-	-	SH3RF2	NM_152550,p.P113L|uc011dbl.1,p.P113L|ENST00000359120,p.P113L|uc003lnt.3,p.P113L|ENST00000511217,p.P113L	retained_intron, protein_coding, processed_transcript	uc011dbl.1	nonsynonymous SNV	exon1	c.C338T	p.P113L	KSRTNPRRLQASPFRLVPNVRIHMD	KSRTNPRRLQASLFRLVPNVRIHMD	3.0	9.0	-	-	3466_5:145317829-145317829 C>T_KSRTNPRRLQASLFRLVPNVRIHMD
1:110593647-110593647 A>T	1.0	3466	MELANOMA	-	-	-	-	STRIP1	uc009wfp.2,p.N500Y|NM_033088,p.N676Y|ENST00000369796,p.N581Y|uc001dza.2,p.N676Y|ENST00000369795,p.N676Y|uc001dyz.1,p.N581Y|NM_001270768,p.N581Y	retained_intron, protein_coding, processed_transcript	uc009wfp.2	nonsynonymous SNV	exon20	c.A1498T	p.N500Y	NLFSCINLLRILNKLTKWKHSRTMM	NLFSCINLLRILYKLTKWKHSRTMM	8.0	3.0	-	-	3466_1:110593647-110593647 A>T_NLFSCINLLRILYKLTKWKHSRTMM
11:102815079-102815079 G>T	0.0	3466	MELANOMA	-	-	-	-	MMP13	ENST00000340273,p.Q484K	protein_coding	ENST00000340273	nonsynonymous SNV	exon11	c.C1450A	p.Q484K	WSSWDYRLYLFFQRTHTV	WSSWDYRLYLFFKRTHTV	8.0	4.0	unscreened	-	3466_11:102815079-102815079 G>T_WSSWDYRLYLFFKRTHTV
21:30410671-30410671 C>T	1.0	3466	MELANOMA	-	-	-	-	USP16	uc002ymx.3,p.P217S|NM_001032410,p.P218S|ENST00000399975,p.P217S|uc002ymy.3,p.P218S|ENST00000399976,p.P218S|uc011acm.2,p.P203S|ENST00000334352,p.P218S|NM_006447,p.P218S|NM_001001992,p.P217S|uc002ymw.3,p.P218S	retained_intron, protein_coding	uc011acm.2	nonsynonymous SNV	exon6	c.C607T	p.P203S	FFNAVMQNLSQTPVLRELLKEVKMS	FFNAVMQNLSQTSVLRELLKEVKMS	9.0	6.0	-	-	3466_21:30410671-30410671 C>T_FFNAVMQNLSQTSVLRELLKEVKMS
10:122273430-122273430 C>T	1.0	3466	MELANOMA	-	-	-	-	PPAPDC1A	uc010qtd.2,p.S58F|uc001lev.1,p.S58F|NM_001030059,p.S58F|ENST00000541332,p.S58F|ENST00000427079,p.S58F|ENST00000369073,p.S48F|ENST00000439221,p.S58F|ENST00000398250,p.S58F|uc009xzl.1,p.S58F	protein_coding, processed_transcript	uc010qtd.2	nonsynonymous SNV	exon3	c.C173T	p.S58F	SDNIPTRLMFAISFLTPLAVICVVK	SDNIPTRLMFAIFFLTPLAVICVVK	7.0	5.0	-	-	3466_10:122273430-122273430 C>T_SDNIPTRLMFAIFFLTPLAVICVVK
2:191844514-191844514 G>A	1.0	3466	MELANOMA	-	-	-	-	STAT1	uc010fse.2,p.P571S|NM_139266,p.P571S|uc002usk.2,p.P571S|uc021vue.1,p.P383S|ENST00000361099,p.P571S|NM_007315,p.P571S|uc002usl.2,p.P573S|ENST00000409465,p.P571S|ENST00000392322,p.P571S|uc002usj.2,p.P571S|ENST00000392323,p.P573S	retained_intron, protein_coding, nonsense_mediated_decay	uc021vue.1	nonsynonymous SNV	exon18	c.C1147T	p.P383S	ESILELIKKHLLPLWNDGCIMGFIS	ESILELIKKHLLSLWNDGCIMGFIS	10.0	7.0	-	-	3466_2:191844514-191844514 G>A_ESILELIKKHLLSLWNDGCIMGFIS
12:111020632-111020632 G>A	1.0	3466	MELANOMA	-	-	-	-	PPTC7	NM_139283,p.R69C|ENST00000354300,p.R69C|uc001trh.1,p.R69C	retained_intron, protein_coding	uc001trh.1	nonsynonymous SNV	exon1	c.C205T	p.R69C	CYGDDACFVARHRSADVLGVADGVG	CYGDDACFVARHCSADVLGVADGVG	7.0	3.0	-	-	3466_12:111020632-111020632 G>A_CYGDDACFVARHCSADVLGVADGVG
15:40259920-40259920 C>T	1.0	3466	MELANOMA	-	-	ID=COSM187106;OCCURENCE=1(endometrium),2(large_intestine)	-	EIF2AK4	uc001zkl.3,p.R465C|ENST00000263791,p.R465C|NM_001013703,p.R465C|uc010bbj.1,p.R194C|ENST00000559624,p.R465C|uc001zkm.1,p.R465C|ENST00000382727,p.R465C	retained_intron, protein_coding, processed_transcript, TEC	uc010bbj.1	nonsynonymous SNV	exon4	c.C580T	p.R194C	ICKEDVFEQTRVRFSDNALPYKTGK	ICKEDVFEQTRVCFSDNALPYKTGK	8.0	2.0	-	-	3466_15:40259920-40259920 C>T_ICKEDVFEQTRVCFSDNALPYKTGK
8:116599688-116599688 G>A	1.0	3466	MELANOMA	-	-	-	-	TRPS1	ENST00000517323,p.S538F|ENST00000220888,p.S734F|ENST00000520276,p.S738F|uc011lhy.2,p.S738F|ENST00000395715,p.S747F|NM_014112,p.S747F|uc003ynz.3,p.S734F|NM_001282902,p.S738F|ENST00000519674,p.S734F|uc003yny.3,p.S747F|ENST00000519076,p.S488F|uc010mcy.3,p.S734F|NM_001282903,p.S740F	protein_coding, nonsense_mediated_decay	uc011lhy.2	nonsynonymous SNV	exon4	c.C2213T	p.S738F	TTANGEEDGHAISTIKEEPKIDFRV	TTANGEEDGHAIFTIKEEPKIDFRV	7.0	9.0	-	-	3466_8:116599688-116599688 G>A_TTANGEEDGHAIFTIKEEPKIDFRV
2:32673897-32673897 C>T	1.0	3466	MELANOMA	-	-	-	2	BIRC6	ENST00000421745,p.L1507F|NM_016252,p.L1507F|uc010ezu.3,p.L1507F	retained_intron, protein_coding, nonsense_mediated_decay	uc010ezu.3	nonsynonymous SNV	exon22	c.C4519T	p.L1507F	RYGLYSSPFDPVLFDLEMSGSSCKN	RYGLYSSPFDPVFFDLEMSGSSCKN	9.0	1.0	-	-	3466_2:32673897-32673897 C>T_RYGLYSSPFDPVFFDLEMSGSSCKN
21:45857022-45857022 C>T	1.0	3466	MELANOMA	-	-	-	-	TRPM2	uc002zet.1,p.P1380L|ENST00000397928,p.P1380L|uc002zeu.1,p.P1380L|ENST00000300481,p.P1326L|uc011aff.1,p.P61L|uc010gpt.1,p.P1430L|NM_003307,p.P1380L|uc002zey.1,p.P859L|ENST00000300482,p.P1380L|uc002zex.1,p.P1166L|ENST00000397932,p.P1430L|uc002zew.1,p.P1380L	protein_coding, processed_transcript	uc011aff.1	nonsynonymous SNV	exon4	c.C182T	p.P61L	IKKMLEVLVVKLPLSEHWALPGGSR	IKKMLEVLVVKLLLSEHWALPGGSR	4.0	3.0	unscreened	-	3466_21:45857022-45857022 C>T_IKKMLEVLVVKLLLSEHWALPGGSR
10:125771978-125771978 G>A	0.0	3466	MELANOMA	-	-	-	-	CHST15	uc001lhm.4,p.L456F|NM_015892,p.L456F|NM_001270764,p.L456F|ENST00000435907,p.L456F|ENST00000346248,p.L456F|uc001lhn.4,p.L456F	protein_coding, processed_transcript	uc001lhn.4	nonsynonymous SNV	exon7	c.C1366T	p.L456F	LNNAMPVRLQVGLYAVYLLDWLSVF	LNNAMPVRLQVGFYAVYLLDWLSVF	7.0	4.0	unscreened	-	3466_10:125771978-125771978 G>A_LNNAMPVRLQVGFYAVYLLDWLSVF
1:60375482-60375482 C>T	1.0	3466	MELANOMA	-	-	-	-	CYP2J2	NM_000775,p.D279N|ENST00000371204,p.D279N|uc001czq.3,p.D279N	protein_coding, processed_transcript	uc001czq.3	nonsynonymous SNV	exon5	c.G835A	p.D279N	KDWNPAETRDFIDAYLKEMSKHTGN	KDWNPAETRDFINAYLKEMSKHTGN	5.0	8.0	unscreened	-	3466_1:60375482-60375482 C>T_KDWNPAETRDFINAYLKEMSKHTGN
19:39664385-39664385 C>T	1.0	3466	MELANOMA	-	-	-	-	PAK4	ENST00000602004,p.P163L|ENST00000435673,p.P278L|uc002oko.1,p.P125L|NM_001014834,p.P125L|ENST00000599386,p.P125L|uc002okm.1,p.P125L|uc002okp.1,p.P188L|uc002okn.1,p.P278L|uc002okj.1,p.P278L|uc002okl.1,p.P278L|NM_005884,p.P278L|ENST00000360442,p.P278L|NM_001014835,p.P125L|NM_001014832,p.P278L|ENST00000599470,p.P125L|ENST00000321944,p.P188L|NM_001014831,p.P278L|ENST00000358301,p.P278L|ENST00000593690,p.P278L	retained_intron, protein_coding, processed_transcript	uc002okp.1	nonsynonymous SNV	exon5	c.C563T	p.P188L	ASEPQLAPPACTPAAPAVPGPPGPR	ASEPQLAPPACTLAAPAVPGPPGPR	6.0	1.0	-	-	3466_19:39664385-39664385 C>T_ASEPQLAPPACTLAAPAVPGPPGPR
7:1523383-1523383 G>A	1.0	3466	MELANOMA	-	-	-	-	INTS1	ENST00000404767,p.P1179L|uc003skn.2,p.P1179L|ENST00000389470,p.P1341L|NM_001080453,p.P1179L	retained_intron, protein_coding, processed_transcript	uc003skn.2	nonsynonymous SNV	exon26	c.C3536T	p.P1179L	VHAMVILLTLGPPRADDSEFQALLD	VHAMVILLTLGPLRADDSEFQALLD	7.0	8.0	-	-	3466_7:1523383-1523383 G>A_VHAMVILLTLGPLRADDSEFQALLD
10:75854073-75854073 T>G	1.0	3466	MELANOMA	-	-	-	-	VCL	uc010qky.1,p.V373G|NM_014000,p.V466G|uc001jwd.3,p.V466G|ENST00000436396,p.V138G|NM_003373,p.V466G|ENST00000211998,p.V466G|uc001jwe.3,p.V466G|uc009xrr.3,p.V215G|ENST00000372755,p.V466G	protein_coding, processed_transcript	uc010qky.1	nonsynonymous SNV	exon10	c.T1118G	p.V373G	GDSPEARALAKQVATALQNLQTKTN	GDSPEARALAKQGATALQNLQTKTN	10.0	4.0	unscreened	-	3466_10:75854073-75854073 T>G_GDSPEARALAKQGATALQNLQTKTN
2:1687882-1687882 G>A	1.0	3466	MELANOMA	-	-	-	-	PXDN	NM_012293,p.S153L|ENST00000252804,p.S153L|uc002qxb.1,p.S153L|uc002qxa.3,p.S153L|ENST00000425171,p.S129L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002qxb.1	nonsynonymous SNV	exon5	c.C458T	p.S153L	LHFNQIETLDPDSFQHLPKLERLFL	LHFNQIETLDPDLFQHLPKLERLFL	8.0	3.0	unscreened	-	3466_2:1687882-1687882 G>A_LHFNQIETLDPDLFQHLPKLERLFL
2:223806250-223806250 C>T	1.0	3466	MELANOMA	-	-	-	1	ACSL3	NM_203372,p.R681C|NM_004457,p.R681C|uc002vni.3,p.R681C|ENST00000392066,p.R681C|ENST00000357430,p.R681C|uc002vnj.3,p.R681C	retained_intron, protein_coding	uc002vnj.3	nonsynonymous SNV	exon16	c.C2041T	p.R681C	ASLEKFEIPVKIRLSPEPWTPETGL	ASLEKFEIPVKICLSPEPWTPETGL	10.0	7.0	-	-	3466_2:223806250-223806250 C>T_ASLEKFEIPVKICLSPEPWTPETGL
10:108336998-108336998 G>A	0.0	3466	MELANOMA	-	-	-	-	SORCS1	NM_001013031,p.P1193L|uc001kyl.3,p.P1193L|ENST00000344440,p.P1193L	protein_coding, processed_transcript	uc001kyl.3	nonsynonymous SNV	exon27	c.C3578T	p.P1193L	SIVAENQSTKEIPTYVNV	SIVAENQSTKEILTYVNV	9.0	1.0	unscreened	-	3466_10:108336998-108336998 G>A_SIVAENQSTKEILTYVNV
3:122287966-122287966 C>T	1.0	3466	MELANOMA	-	-	-	-	DTX3L	ENST00000296161,p.L344F|uc003efk.3,p.L344F|uc021xdb.1,p.L180F|NM_138287,p.L344F	protein_coding	uc021xdb.1	nonsynonymous SNV	exon1	c.C538T	p.L180F	LLIKEKGGELTLLGTQDDISAAKQK	LLIKEKGGELTLFGTQDDISAAKQK	9.0	5.0	-	-	3466_3:122287966-122287966 C>T_LLIKEKGGELTLFGTQDDISAAKQK
12:6788646-6788646 G>A	1.0	3466	MELANOMA	-	-	-	1	ZNF384	ENST00000535485,p.P14L|ENST00000319770,p.P14L|NM_001039920,p.P14L|uc010sfh.2,p.P14L|NM_001135734,p.P14L|ENST00000355772,p.P14L|ENST00000396795,p.P14L|uc001qqd.3,p.P14L|ENST00000544482,p.P14L|ENST00000542351,p.P14L|ENST00000540915,p.P14L|ENST00000396799,p.P14L|ENST00000361959,p.P14L|uc001qqa.3,p.P14L|ENST00000436774,p.P14L|ENST00000417772,p.P14L|ENST00000538829,p.P14L|NM_133476,p.P14L|ENST00000396801,p.P14L	protein_coding, processed_transcript	uc010sfh.2	nonsynonymous SNV	exon3	c.C41T	p.P14L	EESHFNSNPYFWPSIPTVSGQIENT	EESHFNSNPYFWLSIPTVSGQIENT	9.0	5.0	-	-	3466_12:6788646-6788646 G>A_EESHFNSNPYFWLSIPTVSGQIENT
14:33292982-33292982 C>T	0.0	3466	MELANOMA	-	-	-	-	AKAP6	ENST00000280979,p.A1988V|uc001wrq.3,p.A1988V|NM_004274,p.A1988V	retained_intron, protein_coding, processed_transcript	uc001wrq.3	nonsynonymous SNV	exon13	c.C5963T	p.A1988V	ASTPTEKSFSELALETRFNNRQDSD	ASTPTEKSFSELVLETRFNNRQDSD	6.0	4.0	unscreened	-	3466_14:33292982-33292982 C>T_ASTPTEKSFSELVLETRFNNRQDSD
3:141291480-141291480 C>T	1.0	3466	MELANOMA	-	-	ID=COSM225530,COSM225531;OCCURENCE=1(NS)	-	RASA2	uc003eua.1,p.S400F|ENST00000452898,p.S400F|uc003etz.1,p.S400F|uc010huq.1,p.S400F|NM_006506,p.S400F|ENST00000286364,p.S400F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010huq.1	nonsynonymous SNV	exon12	c.C1199T	p.S400F	DTQDANTIFRGNSLATRCLDEMMKI	DTQDANTIFRGNFLATRCLDEMMKI	7.0	3.0	unscreened	-	3466_3:141291480-141291480 C>T_DTQDANTIFRGNFLATRCLDEMMKI
20:62520563-62520563 C>T	1.0	3466	MELANOMA	-	-	ID=COSM109590;OCCURENCE=2(skin),1(lung)	-	TPD52L2	uc021wgf.1,p.S112L|NM_001243894,p.S112L	protein_coding, processed_transcript	uc021wgf.1	nonsynonymous SNV	exon4	c.C335T	p.S112L	VQVSSANSATFKSFEDRVGTIKSKV	VQVSSANSATFKLFEDRVGTIKSKV	10.0	3.0	unscreened	-	3466_20:62520563-62520563 C>T_VQVSSANSATFKLFEDRVGTIKSKV
22:39909778-39909778 C>T	1.0	3466	MELANOMA	-	-	-	-	MIEF1	uc010gxz.1,p.S103F|ENST00000325301,p.S281F|ENST00000404569,p.S281F|uc003axx.3,p.S281F|uc003axw.3,p.S281F|ENST00000402881,p.S281F|NM_019008,p.S281F|uc003axy.3,p.S103F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010gxz.1	nonsynonymous SNV	exon7	c.C308T	p.S103F	VVAGSINWPAIGSLLDYVIRPAPPP	VVAGSINWPAIGFLLDYVIRPAPPP	8.0	6.0	-	-	3466_22:39909778-39909778 C>T_VVAGSINWPAIGFLLDYVIRPAPPP
6:121768091-121768091 G>A	1.0	3466	MELANOMA	-	-	ID=COSM3171225;OCCURENCE=1(large_intestine)	-	GJA1	uc021zel.1,p.R33Q|ENST00000282561,p.R33Q|NM_000165,p.R33Q|uc003pyr.3,p.R33Q	protein_coding	uc021zel.1	nonsynonymous SNV	exon1	c.G98A	p.R33Q	GGKVWLSVLFIFRILLLGTAVESAW	GGKVWLSVLFIFQILLLGTAVESAW	9.0	9.0	unscreened	-	3466_6:121768091-121768091 G>A_GGKVWLSVLFIFQILLLGTAVESAW
1:28793028-28793028 C>T	1.0	3466	MELANOMA	-	-	-	-	PHACTR4	uc001bpy.3,p.S201F|NM_001048183,p.S191F|ENST00000373839,p.S191F|uc001bpw.3,p.S191F|uc001bpu.3,p.S191F|ENST00000373836,p.S201F|NM_023923,p.S201F|uc001bpx.3,p.S175F	protein_coding, processed_transcript	uc001bpy.3	nonsynonymous SNV	exon5	c.C602T	p.S201F	HEASEGQAKDATSSGGTARFIISTS	HEASEGQAKDATFSGGTARFIISTS	8.0	8.0	-	-	3466_1:28793028-28793028 C>T_HEASEGQAKDATFSGGTARFIISTS
19:12763059-12763059 C>T	1.0	3466	MELANOMA	-	-	-	-	MAN2B1	uc002mub.2,p.E652K|NM_001173498,p.E651K|ENST00000221363,p.E651K|ENST00000456935,p.E652K|NM_000528,p.E652K|uc010dyv.1,p.E651K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dyv.1	nonsynonymous SNV	exon16	c.G1951A	p.E651K	TFFWYNASIGDNESDQASGAYIFRP	TFFWYNASIGDNKSDQASGAYIFRP	9.0	3.0	-	-	3466_19:12763059-12763059 C>T_TFFWYNASIGDNKSDQASGAYIFRP
3:124485105-124485105 C>T	1.0	3466	MELANOMA	-	-	-	-	ITGB5	NM_002213,p.G702E|ENST00000296181,p.G702E|uc003eho.3,p.G702E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003eho.3	nonsynonymous SNV	exon13	c.G2105A	p.G702E	CVMMFTYVELPSGKSNLTVLREPEC	CVMMFTYVELPSEKSNLTVLREPEC	10.0	6.0	-	-	3466_3:124485105-124485105 C>T_CVMMFTYVELPSEKSNLTVLREPEC
3:194151838-194151838 G>A	1.0	3466	MELANOMA	-	-	-	-	ATP13A3	uc003ftz.1,p.P553S|ENST00000439040,p.P847S|uc003fty.4,p.P847S|NM_024524,p.P847S|ENST00000256031,p.P847S	retained_intron, protein_coding	uc003ftz.1	nonsynonymous SNV	exon13	c.C1657T	p.P553S	FSVILEHFQDLVPKLMLHGTVFARM	FSVILEHFQDLVSKLMLHGTVFARM	8.0	6.0	-	-	3466_3:194151838-194151838 G>A_FSVILEHFQDLVSKLMLHGTVFARM
19:4556091-4556091 C>T	1.0	3466	MELANOMA	-	-	-	-	SEMA6B	NM_032108,p.R127Q|uc010xih.1,p.R127Q|ENST00000586582,p.R127Q|ENST00000301293,p.R127Q|uc010dud.2,p.R127Q|ENST00000586965,p.R127Q	retained_intron, protein_coding	uc010xih.1	nonsynonymous SNV	exon6	c.G380A	p.R127Q	VCRMKGKQEGECRNFVKVLLLRDES	VCRMKGKQEGECQNFVKVLLLRDES	5.0	8.0	unscreened	-	3466_19:4556091-4556091 C>T_VCRMKGKQEGECQNFVKVLLLRDES
10:101716648-101716648 G>A	1.0	3466	MELANOMA	-	-	-	-	DNMBP	ENST00000324109,p.P195S|uc001kqj.2,p.P195S|ENST00000342239,p.P195S|NM_015221,p.P195S	protein_coding, processed_transcript	uc001kqj.2	nonsynonymous SNV	exon4	c.C583T	p.P195S	FEGELEGRRGIFPEGFVELLGPLRT	FEGELEGRRGIFSEGFVELLGPLRT	6.0	5.0	unscreened	-	3466_10:101716648-101716648 G>A_FEGELEGRRGIFSEGFVELLGPLRT
10:20453494-20453494 C>T	1.0	3466	MELANOMA	-	-	-	-	PLXDC2	NM_001282736,p.P245L|uc001iqh.1,p.P245L|NM_032812,p.P294L|ENST00000377242,p.P245L|ENST00000377252,p.P294L|uc001iqg.1,p.P294L	protein_coding	uc001iqh.1	nonsynonymous SNV	exon6	c.C734T	p.P245L	DAFVVVHRIQQIPNVRRRTIYEYHR	DAFVVVHRIQQILNVRRRTIYEYHR	8.0	7.0	unscreened	-	3466_10:20453494-20453494 C>T_DAFVVVHRIQQILNVRRRTIYEYHR
2:15496466-15496466 T>C	1.0	3466	MELANOMA	-	-	-	-	NBAS	uc002rcc.2,p.K1298E|uc010exl.1,p.K370E|ENST00000441750,p.K1178E|ENST00000281513,p.K1298E|NM_015909,p.K1298E	retained_intron, protein_coding, nonsense_mediated_decay	uc010exl.1	nonsynonymous SNV	exon9	c.A1108G	p.K370E	LLVEQALRFHDYKAASMHCQELMAT	LLVEQALRFHDYEAASMHCQELMAT	6.0	7.0	-	-	3466_2:15496466-15496466 T>C_LLVEQALRFHDYEAASMHCQELMAT
13:39263262-39263262 C>T	1.0	3466	MELANOMA	-	-	-	-	FREM2	ENST00000280481,p.S594F|NM_207361,p.S594F|uc001uwv.3,p.S594F	protein_coding, processed_transcript	uc001uwv.3	nonsynonymous SNV	exon1	c.C1781T	p.S594F	LSLSATDMDSDDSLLLFVLESPFLT	LSLSATDMDSDDFLLLFVLESPFLT	6.0	9.0	unscreened	-	3466_13:39263262-39263262 C>T_LSLSATDMDSDDFLLLFVLESPFLT
2:215593652-215593652 G>A	1.0	3466	MELANOMA	-	-	ID=COSM1591876,COSM1016059;OCCURENCE=1(endometrium)	1	BARD1	ENST00000449967,p.S549L|uc010zjm.1,p.S549L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zjm.1	nonsynonymous SNV	exon10	c.C1646T	p.S549L	PSNTIQRTTLLSSSLQVGARSSVES	PSNTIQRTTLLSLSLQVGARSSVES	6.0	8.0	-	-	3466_2:215593652-215593652 G>A_PSNTIQRTTLLSLSLQVGARSSVES
16:74524997-74524997 G>A	1.0	3466	MELANOMA	-	-	-	-	GLG1	uc002fcy.4,p.H451Y|ENST00000562090,p.H451Y|uc002fcw.4,p.H440Y|NM_001145666,p.H440Y|uc002fcx.3,p.H451Y|ENST00000205061,p.H451Y|NM_012201,p.H451Y|NM_001145667,p.H451Y|ENST00000422840,p.H451Y|ENST00000447066,p.H440Y	retained_intron, protein_coding, nonsense_mediated_decay	uc002fcy.4	nonsynonymous SNV	exon8	c.C1351T	p.H451Y	EIILSCRGEIEHHCSGLHRKGRTLH	EIILSCRGEIEHYCSGLHRKGRTLH	10.0	3.0	-	-	3466_16:74524997-74524997 G>A_EIILSCRGEIEHYCSGLHRKGRTLH
11:108032614-108032614 C>T	1.0	3466	MELANOMA	0.0037	-	-	-	NPAT	ENST00000278612,p.D1067N|uc010rvv.2,p.D123N|NM_002519,p.D1067N|uc001pjz.4,p.D1067N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rvv.2	nonsynonymous SNV	exon4	c.G367A	p.D123N	AAKPCHRRVLCFDSTTAPVANTQGP	AAKPCHRRVLCFNSTTAPVANTQGP	8.0	5.0	unscreened	-	3466_11:108032614-108032614 C>T_AAKPCHRRVLCFNSTTAPVANTQGP
10:100157116-100157116 G>A	1.0	3466	MELANOMA	-	-	-	-	PYROXD2	uc001kpc.3,p.P204L|NM_032709,p.P204L|uc010qpe.2,p.P204L|ENST00000370575,p.P204L	protein_coding, processed_transcript	uc010qpe.2	nonsynonymous SNV	exon6	c.C611T	p.P204L	LLQRMRSLSTLKPLLKAGRILGAQL	LLQRMRSLSTLKLLLKAGRILGAQL	5.0	1.0	unscreened	-	3466_10:100157116-100157116 G>A_LLQRMRSLSTLKLLLKAGRILGAQL
14:20943231-20943231 C>T	1.0	3466	MELANOMA	-	-	-	-	PNP	uc001vxo.4,p.R158C|ENST00000361505,p.R158C|NM_000270,p.R158C|ENST00000553591,p.R197C|uc021rns.1,p.R29C	retained_intron, protein_coding	uc021rns.1	nonsynonymous SNV	exon2	c.C85T	p.R29C	PLRGPNDERFGDRFPAMSDAYDRTM	PLRGPNDERFGDCFPAMSDAYDRTM	8.0	4.0	-	-	3466_14:20943231-20943231 C>T_PLRGPNDERFGDCFPAMSDAYDRTM
10:114925397-114925397 C>T	1.0	3466	MELANOMA	-	-	ID=COSM914880,COSM914879;OCCURENCE=1(endometrium)	1	TCF7L2	ENST00000355995,p.S509L|ENST00000543371,p.S492L|ENST00000542695,p.S225L|uc010qrs.2,p.S380L|uc021pyn.1,p.S497L|uc010qrl.2,p.S469L|ENST00000369397,p.S486L|uc021pyg.1,p.S225L|NM_030756,p.S486L|ENST00000545257,p.S509L|NM_001146285,p.S469L|uc021pyi.1,p.S509L|uc001lae.4,p.S492L|uc021pyk.1,p.S474L|uc010qrt.2,p.S380L|uc001lac.4,p.S486L|uc001laf.4,p.S469L|ENST00000536810,p.S492L|uc010qrr.2,p.S424L|NM_001146274,p.S492L|NM_001198526,p.S469L	protein_coding, processed_transcript, nonsense_mediated_decay	uc021pyn.1	nonsynonymous SNV	exon14	c.C1490T	p.S497L	LSPPSSDGSLLDSPPPSPNLLGSPP	LSPPSSDGSLLDLPPPSPNLLGSPP	7.0	6.0	-	-	3466_10:114925397-114925397 C>T_LSPPSSDGSLLDLPPPSPNLLGSPP
20:60881767-60881767 G>A	1.0	3466	MELANOMA	-	-	-	-	ADRM1	NM_175573,p.G173E|ENST00000253003,p.G173E|NM_001281437,p.G134E|NM_007002,p.G173E|uc002yco.3,p.G173E|NM_001281438,p.G134E|uc002ycn.3,p.G173E	protein_coding, processed_transcript	uc002yco.3	nonsynonymous SNV	exon5	c.G518A	p.G173E	GNMSHSQLMQLIGPAGLGGLGGLGA	GNMSHSQLMQLIEPAGLGGLGGLGA	8.0	3.0	-	-	3466_20:60881767-60881767 G>A_GNMSHSQLMQLIEPAGLGGLGGLGA
1:225340437-225340437 C>T	0.0	3466	MELANOMA	-	-	-	-	DNAH14	ENST00000430092,p.S1666F|ENST00000445597,p.S1256F|ENST00000439375,p.S1666F|NM_001373,p.S1666F|uc001how.2,p.S1666F|ENST00000328556,p.S763F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001how.2	nonsynonymous SNV	exon32	c.C4997T	p.S1666F	YGGGVELPDNLKSLFRPVAMMVPHY	YGGGVELPDNLKFLFRPVAMMVPHY	7.0	4.0	unscreened	-	3466_1:225340437-225340437 C>T_YGGGVELPDNLKFLFRPVAMMVPHY
1:44160534-44160534 C>T	1.0	3466	MELANOMA	-	-	-	-	KDM4A	ENST00000372396,p.T880I|uc001cjx.3,p.T880I|NM_014663,p.T880I	protein_coding, processed_transcript	uc001cjx.3	nonsynonymous SNV	exon18	c.C2639T	p.T880I	MQPDDWPFVVFITCFRHKIPNLERA	MQPDDWPFVVFIICFRHKIPNLERA	8.0	2.0	-	-	3466_1:44160534-44160534 C>T_MQPDDWPFVVFIICFRHKIPNLERA
6:28360693-28360693 G>A	1.0	3466	MELANOMA	-	-	-	-	ZSCAN12	ENST00000396827,p.S178F|ENST00000361028,p.S178F|uc011dlh.2,p.S178F|NM_001163391,p.S178F	protein_coding	uc011dlh.2	nonsynonymous SNV	exon3	c.C533T	p.S178F	KAQPKYESPELESQQEQVLDVETGN	KAQPKYESPELEFQQEQVLDVETGN	6.0	1.0	unscreened	-	3466_6:28360693-28360693 G>A_KAQPKYESPELEFQQEQVLDVETGN
2:206869496-206869496 G>A	1.0	3466	MELANOMA	-	-	-	-	INO80D	NM_017759,p.P894S|uc002vaz.4,p.P894S|ENST00000403263,p.P894S	protein_coding	uc002vaz.4	nonsynonymous SNV	exon11	c.C2680T	p.P894S	GVVNPRTHWGNLPVNLGDPSPFSNL	GVVNPRTHWGNLSVNLGDPSPFSNL	6.0	8.0	unscreened	-	3466_2:206869496-206869496 G>A_GVVNPRTHWGNLSVNLGDPSPFSNL
1:31447611-31447611 G>A	1.0	3466	MELANOMA	-	-	-	-	PUM1	ENST00000424085,p.P223S|uc010oga.1,p.P369S|NM_014676,p.P465S|ENST00000423018,p.P369S|uc010ogb.1,p.P406S|ENST00000440538,p.P466S|ENST00000426105,p.P465S|NM_001020658,p.P465S|ENST00000373747,p.P466S|uc001bsj.1,p.P466S|uc001bsi.1,p.P465S|uc001bsk.1,p.P501S|ENST00000373742,p.P406S|uc001bsf.1,p.P131S|uc001bsh.1,p.P465S|ENST00000373741,p.P501S|ENST00000257075,p.P465S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ogb.1	nonsynonymous SNV	exon8	c.C1216T	p.P406S	PAVVPHQYYGVTPWGVYPASLFQQQ	PAVVPHQYYGVTSWGVYPASLFQQQ	9.0	1.0	unscreened	-	3466_1:31447611-31447611 G>A_PAVVPHQYYGVTSWGVYPASLFQQQ
4:84511399-84511399 C>T	1.0	3466	MELANOMA	-	-	-	-	AGPAT9	NM_001256422,p.S231F|uc003how.4,p.S231F|NM_032717,p.S231F|uc003hoy.4,p.S231F|uc003hox.4,p.S231F|NM_001256421,p.S231F|ENST00000395226,p.S231F|ENST00000264409,p.S231F	retained_intron, protein_coding, processed_transcript	uc003hoy.4	nonsynonymous SNV	exon7	c.C692T	p.S231F	PQKGGICVANHTSPIDVLILTTDGC	PQKGGICVANHTFPIDVLILTTDGC	6.0	4.0	-	-	3466_4:84511399-84511399 C>T_PQKGGICVANHTFPIDVLILTTDGC
1:36785789-36785789 G>A	1.0	3466	MELANOMA	-	-	-	-	SH3D21	NM_001162530,p.E509K|ENST00000505871,p.E398K|ENST00000453908,p.E509K|ENST00000312808,p.E155K|uc009vuz.1,p.E155K|uc010oib.1,p.E398K|NM_024676,p.E398K|ENST00000426732,p.E393K|uc010oia.1,p.E509K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010oib.1	nonsynonymous SNV	exon11	c.G1192A	p.E398K	TRDDIQFHHFSSEEALQKVKYFVAK	TRDDIQFHHFSSKEALQKVKYFVAK	6.0	7.0	unscreened	-	3466_1:36785789-36785789 G>A_TRDDIQFHHFSSKEALQKVKYFVAK
2:53955854-53955854 G>A	1.0	3466	MELANOMA	-	-	-	-	ASB3,GPR75-ASB3	uc021vhl.1,p.S127L|uc002rxh.2,p.S127L|NM_145863,p.S127L|ENST00000406687,p.S127L|NM_016115,p.S200L|ENST00000394717,p.S127L|uc002rxg.2,p.S200L|ENST00000352846,p.S238L|ENST00000406625,p.S235L|uc002rxi.4,p.S238L|NM_001164165,p.S238L|ENST00000263634,p.S200L|NM_001201965,p.S127L	 processed_transcript,retained_intron, protein_coding	uc021vhl.1	nonsynonymous SNV	exon4	c.C380T	p.S127L	QYGKLESLSILISSGANVNCQALDK	QYGKLESLSILILSGANVNCQALDK	7.0	7.0	-	-	3466_2:53955854-53955854 G>A_QYGKLESLSILILSGANVNCQALDK
11:134048749-134048749 G>A	1.0	3466	MELANOMA	-	-	-	-	NCAPD3	ENST00000534548,p.S881F|NM_015261,p.S881F|uc001qhd.1,p.S881F|ENST00000534532,p.S881F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001qhd.1	nonsynonymous SNV	exon21	c.C2642T	p.S881F	ARVEKRIFLLIQSVLASSADADHSP	ARVEKRIFLLIQFVLASSADADHSP	7.0	5.0	-	-	3466_11:134048749-134048749 G>A_ARVEKRIFLLIQFVLASSADADHSP
15:78458537-78458537 C>T	1.0	3466	MELANOMA	-	-	-	-	IDH3A	uc002bdg.3,p.P217S|uc010umu.2,p.P195S|uc002bdf.3,p.P155S|NM_005530,p.P304S|ENST00000299518,p.P304S|uc010umt.2,p.P269S|uc002bdd.3,p.P304S|ENST00000441490,p.P195S|ENST00000558554,p.P269S|uc010umv.2,p.P254S|ENST00000559205,p.P25S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010umv.2	nonsynonymous SNV	exon10	c.C760T	p.P254S	TAPDIAGKDMANPTALLLSAVMMLR	TAPDIAGKDMANSTALLLSAVMMLR	9.0	7.0	unscreened	-	3466_15:78458537-78458537 C>T_TAPDIAGKDMANSTALLLSAVMMLR
12:88482896-88482896 C>A	1.0	3466	MELANOMA	-	-	-	-	CEP290	NM_025114,p.M1314I|ENST00000397838,p.M374I|uc001taq.3,p.M374I|ENST00000547691,p.M374I|uc001tar.3,p.M1314I|ENST00000309041,p.M1316I|ENST00000552810,p.M1314I	protein_coding, nonsense_mediated_decay	uc001tar.3	nonsynonymous SNV	exon31	c.G3942T	p.M1314I	QEMKNSQQEHRNMENKTLEMELKLK	QEMKNSQQEHRNIENKTLEMELKLK	7.0	9.0	unscreened	-	3466_12:88482896-88482896 C>A_QEMKNSQQEHRNIENKTLEMELKLK
12:40265656-40265656 C>T	1.0	3466	MELANOMA	-	-	-	-	SLC2A13	NM_052885,p.G381E|uc001rme.1,p.G28E|uc010skm.2,p.G381E|ENST00000280871,p.G381E	retained_intron, protein_coding	uc010skm.2	nonsynonymous SNV	exon5	c.G1142A	p.G381E	VTAFTNFIFTLVGVWLVEKVGRRKL	VTAFTNFIFTLVEVWLVEKVGRRKL	6.0	9.0	unscreened	-	3466_12:40265656-40265656 C>T_VTAFTNFIFTLVEVWLVEKVGRRKL
1:247492561-247492561 G>A	1.0	3466	MELANOMA	-	-	-	-	ZNF496	uc001ico.3,p.P107L|ENST00000294753,p.P107L|NM_032752,p.P107L|uc009xgv.3,p.P107L|uc010pyv.1,p.P107L|ENST00000366498,p.P107L	protein_coding, processed_transcript	uc010pyv.1	nonsynonymous SNV	exon1	c.C320T	p.P107L	PREIQSWVRAQEPESGEQAVAAVEA	PREIQSWVRAQELESGEQAVAAVEA	7.0	1.0	-	-	3466_1:247492561-247492561 G>A_PREIQSWVRAQELESGEQAVAAVEA
16:70765411-70765411 G>A	1.0	3466	MELANOMA	-	-	-	-	VAC14	uc002ezm.3,p.P550S|NM_018052,p.P550S|uc010cfw.3,p.P316S|uc010cfx.1,p.P28S|ENST00000261776,p.P550S|uc002ezn.3,p.P115S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cfx.1	nonsynonymous SNV	exon2	c.C82T	p.P28S	FSSERKLLEVRGPFIIRQLCLLLNA	FSSERKLLEVRGSFIIRQLCLLLNA	7.0	5.0	unscreened	-	3466_16:70765411-70765411 G>A_FSSERKLLEVRGSFIIRQLCLLLNA
1:224492484-224492484 G>A	0.0	3466	MELANOMA	-	-	-	-	NVL	NM_206840,p.S154F|NM_001243147,p.S169F|ENST00000281701,p.S260F|uc001hok.3,p.S260F|ENST00000361463,p.S154F|ENST00000469075,p.S169F|NM_001243146,p.S44F|ENST00000488718,p.S169F|uc010pvd.2,p.S169F|uc001hol.3,p.S154F|uc010pve.2,p.S44F|ENST00000340871,p.S44F|ENST00000436927,p.S156F|ENST00000492281,p.S165F|ENST00000391875,p.S154F|NM_002533,p.S260F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010pve.2	nonsynonymous SNV	exon5	c.C131T	p.S44F	KKAKARGLEFQISNVKFEDVGGNDM	KKAKARGLEFQIFNVKFEDVGGNDM	8.0	4.0	-	-	3466_1:224492484-224492484 G>A_KKAKARGLEFQIFNVKFEDVGGNDM
19:12902674-12902674 A>T	1.0	3466	MELANOMA	-	-	-	-	JUNB	NM_002229,p.H30L|ENST00000302754,p.H30L|uc002mvc.3,p.H30L	protein_coding	uc002mvc.3	nonsynonymous SNV	exon1	c.A89T	p.H30L	TGYGRAPGGLSLHDYKLLKPSLAVN	TGYGRAPGGLSLLDYKLLKPSLAVN	10.0	2.0	-	-	3466_19:12902674-12902674 A>T_TGYGRAPGGLSLLDYKLLKPSLAVN
2:178402868-178402868 C>T	1.0	3466	MELANOMA	-	-	-	-	AGPS	ENST00000264167,p.S641F|NM_003659,p.S641F|ENST00000409888,p.S172F|uc010zfb.1,p.S551F|uc002ull.2,p.S641F	retained_intron, protein_coding	uc010zfb.1	nonsynonymous SNV	exon20	c.C1652T	p.S551F	ESISDVGFGMLKSVKEYVDPNNIFG	ESISDVGFGMLKFVKEYVDPNNIFG	7.0	7.0	-	-	3466_2:178402868-178402868 C>T_ESISDVGFGMLKFVKEYVDPNNIFG
5:149900874-149900874 C>T	1.0	3466	MELANOMA	-	-	-	-	NDST1	ENST00000522491,p.L20F|ENST00000523767,p.L20F|NM_001543,p.L20F|uc011dcj.2,p.L20F|ENST00000519157,p.L20F|ENST00000261797,p.L20F|NM_001301063,p.L20F|uc003lsl.3,p.L20F|uc003lsk.4,p.L20F	protein_coding, processed_transcript, TEC	uc011dcj.2	nonsynonymous SNV	exon2	c.C58T	p.L20F	RRLCRHVSPQAVLFLLFIFCLFSVF	RRLCRHVSPQAVFFLLFIFCLFSVF	9.0	9.0	-	-	3466_5:149900874-149900874 C>T_RRLCRHVSPQAVFFLLFIFCLFSVF
2:238287312-238287312 C>T	0.0	3466	MELANOMA	-	-	-	-	COL6A3	ENST00000353578,p.G616R|ENST00000347401,p.G621R|uc002vwo.2,p.G616R|ENST00000392003,p.G415R|NM_057164,p.G415R|uc002vwq.3,p.G616R|NM_004369,p.G822R|uc002vwr.3,p.G415R|ENST00000409809,p.G616R|ENST00000295550,p.G822R|ENST00000392004,p.G616R|NM_057167,p.G616R|uc002vwl.2,p.G822R|NM_057165,p.G616R	retained_intron, protein_coding, processed_transcript	uc002vwr.3	nonsynonymous SNV	exon4	c.G1243A	p.G415R	QQLIQPLTTYVSGGVEEVPLAQPES	QQLIQPLTTYVSRGVEEVPLAQPES	10.0	2.0	unscreened	-	3466_2:238287312-238287312 C>T_QQLIQPLTTYVSRGVEEVPLAQPES
17:65184513-65184513 G>A	1.0	3466	MELANOMA	-	-	-	-	HELZ	ENST00000580168,p.R362C|uc002jfx.4,p.R362C|NM_014877,p.R362C|ENST00000579953,p.R362C|uc010wqk.2,p.R362C|ENST00000417253,p.R362C|ENST00000358691,p.R362C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay	uc010wqk.2	nonsynonymous SNV	exon12	c.C1084T	p.R362C	GIAFNTEIFGTFRQTIVFDFGLEPV	GIAFNTEIFGTFCQTIVFDFGLEPV	8.0	9.0	-	-	3466_17:65184513-65184513 G>A_GIAFNTEIFGTFCQTIVFDFGLEPV
14:64444689-64444689 C>T	1.0	3466	MELANOMA	-	-	ID=COSM698157;OCCURENCE=1(lung)	-	SYNE2	NM_015180,p.H454Y|uc021ruh.1,p.H454Y|uc001xgl.3,p.H454Y|NM_182914,p.H454Y|ENST00000358025,p.H454Y|ENST00000344113,p.H454Y|uc001xgm.3,p.H454Y|ENST00000554584,p.H454Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ruh.1	nonsynonymous SNV	exon12	c.C1360T	p.H454Y	NILLTFENKDENHLPLVPPNKLEEM	NILLTFENKDENYLPLVPPNKLEEM	8.0	5.0	unscreened	-	3466_14:64444689-64444689 C>T_NILLTFENKDENYLPLVPPNKLEEM
10:63852730-63852730 C>T	1.0	3466	MELANOMA	-	-	-	-	ARID5B	ENST00000309334,p.P927S|ENST00000279873,p.P1170S|NM_001244638,p.P927S|NM_032199,p.P1170S|uc001jlt.2,p.P1170S|uc001jlu.2,p.P927S	protein_coding	uc001jlu.2	nonsynonymous SNV	exon7	c.C2779T	p.P927S	LHNSIYPLAAINPQAAFPSSQLSSV	LHNSIYPLAAINSQAAFPSSQLSSV	8.0	5.0	-	-	3466_10:63852730-63852730 C>T_LHNSIYPLAAINSQAAFPSSQLSSV
8:70553043-70553043 G>A	1.0	3466	MELANOMA	-	-	-	-	SULF1	uc010lza.1,p.G851E|uc003xyd.2,p.G851E|ENST00000402687,p.G851E|NM_015170,p.G851E|uc003xyg.2,p.G851E|ENST00000458141,p.G851E|uc003xyf.2,p.G851E|ENST00000419716,p.G851E|NM_001128204,p.G851E|uc003xye.2,p.G851E|NM_001128206,p.G851E|NM_001128205,p.G851E|ENST00000260128,p.G851E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lza.1	nonsynonymous SNV	exon22	c.G2552A	p.G851E	KQCNPRPKNLDVGNKDGGSYDLHRG	KQCNPRPKNLDVENKDGGSYDLHRG	10.0	9.0	-	-	3466_8:70553043-70553043 G>A_KQCNPRPKNLDVENKDGGSYDLHRG
10:15255455-15255455 G>A	1.0	3466	MELANOMA	-	-	-	-	FAM171A1	ENST00000378116,p.S711F|NM_001010924,p.S711F|uc001iob.3,p.S711F	protein_coding, processed_transcript	uc001iob.3	nonsynonymous SNV	exon8	c.C2132T	p.S711F	GKPLPHPRAWFVSLDGRSNAHVRHS	GKPLPHPRAWFVFLDGRSNAHVRHS	8.0	2.0	-	-	3466_10:15255455-15255455 G>A_GKPLPHPRAWFVFLDGRSNAHVRHS
1:151288233-151288233 G>A	1.0	3466	MELANOMA	-	-	-	-	PI4KB	uc001exu.3,p.S242L|ENST00000368874,p.S242L|NM_001198773,p.S242L|NM_001198774,p.S242L|ENST00000368873,p.S242L|uc001exs.3,p.S242L|ENST00000368872,p.S242L|ENST00000271657,p.S254L|ENST00000368875,p.S254L|uc001exr.3,p.S254L|NM_002651,p.S254L|uc001ext.3,p.S242L|ENST00000438243,p.S242L	retained_intron, protein_coding	uc001exu.3	nonsynonymous SNV	exon2	c.C725T	p.S242L	HSRGTKLRKLILSDELKPAHRKREL	HSRGTKLRKLILLDELKPAHRKREL	10.0	2.0	-	-	3466_1:151288233-151288233 G>A_HSRGTKLRKLILLDELKPAHRKREL
1:9416185-9416185 C>T	1.0	3466	MELANOMA	-	-	-	-	SPSB1	ENST00000377399,p.P79S|ENST00000450402,p.P79S|ENST00000357898,p.P79S|uc010oae.2,p.P79S|uc001apv.3,p.P79S|ENST00000328089,p.P79S|NM_025106,p.P79S	protein_coding	uc010oae.2	nonsynonymous SNV	exon2	c.C235T	p.P79S	VKEDDKLIFHRHPVAQSTDAIRGKV	VKEDDKLIFHRHSVAQSTDAIRGKV	7.0	7.0	-	-	3466_1:9416185-9416185 C>T_VKEDDKLIFHRHSVAQSTDAIRGKV
10:24721977-24721977 G>A	1.0	3466	MELANOMA	-	-	-	-	KIAA1217	NM_019590,p.E203K|ENST00000458595,p.E203K|uc001irs.3,p.E123K|ENST00000376454,p.E203K|ENST00000438429,p.E53K|uc001irv.1,p.E53K|NM_001282768,p.E203K|uc001irt.4,p.E203K|NM_001282767,p.E203K|ENST00000430453,p.E124K|uc010qcz.2,p.E203K|uc001iru.4,p.E203K|uc010qcy.2,p.E203K|NM_001098500,p.E123K|ENST00000376452,p.E203K|ENST00000376462,p.E123K|ENST00000376456,p.E203K	retained_intron, protein_coding, processed_transcript	uc010qcz.2	nonsynonymous SNV	exon4	c.G607A	p.E203K	YGDETKQLRMPNEITSADTIRALFV	YGDETKQLRMPNKITSADTIRALFV	9.0	1.0	unscreened	-	3466_10:24721977-24721977 G>A_YGDETKQLRMPNKITSADTIRALFV
2:3469459-3469459 C>T	1.0	3466	MELANOMA	-	-	-	-	TRAPPC12	ENST00000415624,p.S88F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000415624	nonsynonymous SNV	exon4	c.C263T	p.S88F	QEPQLLSGIGRISLQQIGDIKTAEK	QEPQLLSGIGRIFLQQIGDIKTAEK	9.0	4.0	unscreened	-	3466_2:3469459-3469459 C>T_QEPQLLSGIGRIFLQQIGDIKTAEK
1:16351327-16351327 C>T	0.0	3466	MELANOMA	-	-	-	-	CLCNKA	NM_001042704,p.P100L|NM_004070,p.P100L|uc001axv.3,p.P100L|uc001axu.3,p.P100L|ENST00000375692,p.P100L|ENST00000420078,p.P100L|ENST00000331433,p.P100L	protein_coding, processed_transcript	uc001axv.3	nonsynonymous SNV	exon4	c.C299T	p.P100L	SHLLRYLSWTVYPVALVSFSSGFSQ	SHLLRYLSWTVYLVALVSFSSGFSQ	1.0	1.0	unscreened	-	3466_1:16351327-16351327 C>T_SHLLRYLSWTVYLVALVSFSSGFSQ
1:26135580-26135580 C>T	1.0	3466	MELANOMA	-	-	-	-	SEPN1	ENST00000354177,p.P237S	protein_coding, processed_transcript	ENST00000354177	nonsynonymous SNV	exon5	c.C709T	p.P237S	FHPRPFVKTRFAPQGAVACLTAISD	FHPRPFVKTRFASQGAVACLTAISD	10.0	7.0	-	-	3466_1:26135580-26135580 C>T_FHPRPFVKTRFASQGAVACLTAISD
13:72147103-72147103 G>A	0.0	3466	MELANOMA	-	-	-	-	DACH1	ENST00000359684,p.P444S|ENST00000305425,p.P392S|uc021rkj.1,p.P392S	protein_coding	uc021rkj.1	nonsynonymous SNV	exon4	c.C1174T	p.P392S	ELPFMMMPHPLIPVSLPPASVTMAM	ELPFMMMPHPLISVSLPPASVTMAM	1.0	9.0	unscreened	-	3466_13:72147103-72147103 G>A_ELPFMMMPHPLISVSLPPASVTMAM
6:30622983-30622983 G>A	1.0	3466	MELANOMA	-	-	-	-	DHX16	uc011dmo.2,p.S871F|uc003nqz.3,p.S931F|NM_001164239,p.S871F|ENST00000376437,p.S450F|ENST00000376442,p.S931F|NM_003587,p.S931F|uc003nqy.3,p.S450F	protein_coding, processed_transcript	uc011dmo.2	nonsynonymous SNV	exon18	c.C2612T	p.S871F	EGLLERVEVGLSSCQGDYIRVRKAI	EGLLERVEVGLSFCQGDYIRVRKAI	8.0	1.0	unscreened	-	3466_6:30622983-30622983 G>A_EGLLERVEVGLSFCQGDYIRVRKAI
11:12903502-12903502 C>T	1.0	3466	MELANOMA	-	-	-	-	TEAD1	ENST00000526600,p.P95L|uc009ygl.3,p.P70L|ENST00000361905,p.P176L|ENST00000334310,p.P180L|ENST00000527575,p.P191L|uc021qdx.1,p.P191L|uc001mkk.4,p.P95L|ENST00000361985,p.P191L|ENST00000527636,p.P191L|NM_021961,p.P191L	retained_intron, protein_coding	uc021qdx.1	nonsynonymous SNV	exon8	c.C572T	p.P191L	AYPIQPAVTAPIPGFEPASAPAPSV	AYPIQPAVTAPILGFEPASAPAPSV	10.0	3.0	-	-	3466_11:12903502-12903502 C>T_AYPIQPAVTAPILGFEPASAPAPSV
1:186072607-186072607 C>T	1.0	3466	MELANOMA	-	-	-	-	HMCN1	ENST00000271588,p.P3526L|NM_031935,p.P3526L|ENST00000367492,p.P3526L|uc001grq.1,p.P3526L	protein_coding, processed_transcript	uc001grq.1	nonsynonymous SNV	exon69	c.C10577T	p.P3526L	EVSKHFILKVLEPPHINGSEEHEEI	EVSKHFILKVLELPHINGSEEHEEI	9.0	2.0	unscreened	-	3466_1:186072607-186072607 C>T_EVSKHFILKVLELPHINGSEEHEEI
15:39874718-39874718 G>A	1.0	3466	MELANOMA	-	-	-	-	THBS1	uc001zkh.3,p.S131N|NM_003246,p.S131N|ENST00000260356,p.S131N	retained_intron, protein_coding	uc001zkh.3	nonsynonymous SNV	exon3	c.G392A	p.S131N	VVSNGKAGTLDLSLTVQGKQHVVSV	VVSNGKAGTLDLNLTVQGKQHVVSV	10.0	1.0	-	-	3466_15:39874718-39874718 G>A_VVSNGKAGTLDLNLTVQGKQHVVSV
18:12725516-12725516 C>T	1.0	3466	MELANOMA	-	-	-	-	PSMG2	ENST00000317615,p.P261S|NM_020232,p.P261S|NM_147163,p.P230S|uc002krk.3,p.P261S|uc002krg.3,p.P230S	retained_intron, protein_coding, nonsense_mediated_decay	uc002krk.3	nonsynonymous SNV	exon7	c.C781T	p.P261S	SSWRLLFGSGLPPALF	SSWRLLFGSGLPSALF	7.0	6.0	-	-	3466_18:12725516-12725516 C>T_SSWRLLFGSGLPSALF
11:121177961-121177961 C>T	1.0	3466	MELANOMA	-	-	-	-	SC5D	uc001pxu.3,p.R214C|ENST00000392789,p.R214C|uc001pxv.3,p.R214C|ENST00000264027,p.R214C|NM_006918,p.R214C|NM_001024956,p.R214C	retained_intron, protein_coding, processed_transcript	uc001pxv.3	nonsynonymous SNV	exon5	c.C640T	p.R214C	NIWTISIHDGDFRVPQILQPFINGS	NIWTISIHDGDFCVPQILQPFINGS	8.0	4.0	-	-	3466_11:121177961-121177961 C>T_NIWTISIHDGDFCVPQILQPFINGS
16:3021732-3021732 C>T	1.0	3466	MELANOMA	-	-	-	-	PAQR4	uc002csj.4,p.S202F|NM_001284511,p.S163F|NM_001284513,p.S135F|uc010uwm.2,p.S133F|NM_152341,p.S202F|ENST00000576565,p.S135F|uc002csl.4,p.S128F|ENST00000572687,p.S128F|ENST00000574988,p.S135F|ENST00000318782,p.S202F|NM_001284512,p.S128F|uc002csk.4,p.S163F|ENST00000293978,p.S163F	protein_coding	uc010uwm.2	nonsynonymous SNV	exon2	c.C398T	p.S133F	ARGVGLGSGAPGSLPCYLRMDALAL	ARGVGLGSGAPGFLPCYLRMDALAL	8.0	8.0	-	-	3466_16:3021732-3021732 C>T_ARGVGLGSGAPGFLPCYLRMDALAL
6:151754312-151754312 G>A	1.0	3466	MELANOMA	-	-	-	-	RMND1	uc003qoi.3,p.P223S|ENST00000367303,p.P223S|uc031spy.1,p.P53S|ENST00000444024,p.P53S|NM_001271937,p.P53S|NM_017909,p.P223S	protein_coding, processed_transcript	uc031spy.1	nonsynonymous SNV	exon3	c.C157T	p.P53S	VMGVENSAKEGDPGTIFFFREGAAV	VMGVENSAKEGDSGTIFFFREGAAV	5.0	9.0	unscreened	-	3466_6:151754312-151754312 G>A_VMGVENSAKEGDSGTIFFFREGAAV
5:14498726-14498726 C>T	1.0	3466	MELANOMA	-	-	-	-	TRIO	ENST00000537187,p.S2594L|ENST00000344204,p.S2770L|ENST00000513206,p.S2503L|NM_007118,p.S2770L|uc003jff.3,p.S2770L|ENST00000344135,p.S269L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jff.3	nonsynonymous SNV	exon53	c.C8309T	p.S2770L	TCIAVNDMGSASSSASLRVLGPGMD	TCIAVNDMGSASLSASLRVLGPGMD	10.0	2.0	-	-	3466_5:14498726-14498726 C>T_TCIAVNDMGSASLSASLRVLGPGMD
11:15197348-15197348 G>A	1.0	3466	MELANOMA	-	-	-	-	INSC	NM_001278314,p.E40K|uc001mmc.4,p.E40K|NM_001278316,p.E40K|NM_001031853,p.E87K|ENST00000530161,p.E40K|uc001mly.4,p.E87K|ENST00000379556,p.E40K|NM_001042536,p.E40K|ENST00000525218,p.E40K|uc010rcs.3,p.E40K|uc001mmb.4,p.E40K|NM_001278315,p.E40K|ENST00000424273,p.E40K|NM_001278313,p.E40K|ENST00000379554,p.E87K|uc001mma.4,p.E40K|ENST00000528567,p.E40K|uc001mlz.4,p.E40K	protein_coding, processed_transcript	uc010rcs.3	nonsynonymous SNV	exon2	c.G118A	p.E40K	VQRWMEDLKLMTECECMCVLQAKPI	VQRWMEDLKLMTKCECMCVLQAKPI	9.0	3.0	unscreened	-	3466_11:15197348-15197348 G>A_VQRWMEDLKLMTKCECMCVLQAKPI
11:403084-403084 C>T	1.0	3466	MELANOMA	-	-	-	-	PKP3	NM_007183,p.L582F|ENST00000331563,p.L582F|uc021qbk.1,p.L597F|uc001lpc.3,p.L582F	retained_intron, protein_coding, processed_transcript	uc021qbk.1	nonsynonymous SNV	exon10	c.C1789T	p.L597F	FTPQSRRLRELPLAADALTFAEVSK	FTPQSRRLRELPFAADALTFAEVSK	5.0	6.0	unscreened	-	3466_11:403084-403084 C>T_FTPQSRRLRELPFAADALTFAEVSK
3:121202283-121202283 G>A	1.0	3466	MELANOMA	-	-	-	1	POLQ	uc003eee.4,p.L1974F|ENST00000264233,p.L1974F|NM_199420,p.L1974F|uc003eed.3,p.L1146F	protein_coding, processed_transcript	uc003eee.4	nonsynonymous SNV	exon18	c.C5920T	p.L1974F	VVIYDFIQSYKILLLSCGISLEQSY	VVIYDFIQSYKIFLLSCGISLEQSY	3.0	5.0	unscreened	-	3466_3:121202283-121202283 G>A_VVIYDFIQSYKIFLLSCGISLEQSY
12:124497004-124497004 C>T	1.0	3466	MELANOMA	-	-	ID=COSM1511310;OCCURENCE=1(lung)	-	ZNF664	NM_001204298,p.H105Y|ENST00000538932,p.H105Y|uc001uga.3,p.H105Y|ENST00000539644,p.H105Y|ENST00000392404,p.H105Y|uc001ugb.3,p.H105Y|ENST00000337815,p.H105Y|uc021rfz.1,p.H105Y|NM_152437,p.H105Y	retained_intron, protein_coding, processed_transcript	uc021rfz.1	nonsynonymous SNV	exon1	c.C313T	p.H105Y	GKAFNWSSHLQIHMRVHTGEKPYVC	GKAFNWSSHLQIYMRVHTGEKPYVC	9.0	6.0	-	-	3466_12:124497004-124497004 C>T_GKAFNWSSHLQIYMRVHTGEKPYVC
15:72338590-72338590 G>C	1.0	3466	MELANOMA	-	-	-	-	MYO9A	ENST00000564571,p.F105L|ENST00000569314,p.F105L|ENST00000444904,p.F105L|uc002ato.4,p.F105L|ENST00000356056,p.F105L|uc002atl.5,p.F105L|NM_006901,p.F105L|ENST00000424560,p.F105L|uc002atn.1,p.F105L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ato.4	nonsynonymous SNV	exon2	c.C315G	p.F105L	ALENRLSGEDYRFLLREKNLDGSIH	ALENRLSGEDYRLLLREKNLDGSIH	8.0	7.0	-	-	3466_15:72338590-72338590 G>C_ALENRLSGEDYRLLLREKNLDGSIH
1:155736268-155736268 G>A	1.0	3466	MELANOMA	-	-	-	-	GON4L	uc001fmb.4,p.S195L|uc001flz.2,p.S999L|NM_001282860,p.S999L|NM_001282861,p.S999L|ENST00000368331,p.S999L|uc009wrh.1,p.S999L|uc009wri.3,p.S585L|NM_001282856,p.S999L|NM_001282858,p.S999L|uc001fmd.4,p.S999L|ENST00000271883,p.S999L|uc001fmc.3,p.S999L|ENST00000361040,p.S999L|NM_032292,p.S999L|ENST00000437809,p.S999L|uc001fly.1,p.S999L|uc001fma.1,p.S999L	retained_intron, protein_coding, processed_transcript	uc009wri.3	nonsynonymous SNV	exon20	c.C1754T	p.S585L	RFPRKAWRQKRSSVLKPLLIQPSPS	RFPRKAWRQKRSLVLKPLLIQPSPS	10.0	2.0	-	-	3466_1:155736268-155736268 G>A_RFPRKAWRQKRSLVLKPLLIQPSPS
9:131847564-131847564 C>T	1.0	3466	MELANOMA	-	-	-	-	DOLPP1	NM_001135917,p.S114F|NM_020438,p.S114F|ENST00000406974,p.S114F|uc004bxc.3,p.S114F|ENST00000540102,p.S16F|ENST00000372546,p.S114F|uc004bxd.3,p.S114F	protein_coding, processed_transcript, nonsense_mediated_decay	uc004bxd.3	nonsynonymous SNV	exon4	c.C341T	p.S114F	SHSQFMWFFSVYSFLFLYLRMHQTN	SHSQFMWFFSVYFFLFLYLRMHQTN	5.0	9.0	-	-	3466_9:131847564-131847564 C>T_SHSQFMWFFSVYFFLFLYLRMHQTN
5:38876329-38876329 C>T	1.0	3466	MELANOMA	-	-	ID=COSM3393556;OCCURENCE=1(pancreas)	-	OSMR	uc003jln.2,p.P34S|NM_001168355,p.P34S|ENST00000502536,p.P34S|NM_003999,p.P34S|uc003jlm.2,p.P34S|ENST00000274276,p.P34S	protein_coding, nonsense_mediated_decay	uc003jln.2	nonsynonymous SNV	exon3	c.C100T	p.P34S	QSEVLAERLPLTPVSLKVSTNSTRQ	QSEVLAERLPLTSVSLKVSTNSTRQ	8.0	2.0	-	-	3466_5:38876329-38876329 C>T_QSEVLAERLPLTSVSLKVSTNSTRQ
12:124163787-124163787 C>T	1.0	3466	MELANOMA	-	-	-	-	TCTN2	ENST00000303372,p.P172L|ENST00000426174,p.P171L|uc001ufp.3,p.P172L|NM_001143850,p.P171L|NM_024809,p.P172L|uc009zya.3,p.P171L	retained_intron, protein_coding, nonsense_mediated_decay	uc009zya.3	nonsynonymous SNV	exon5	c.C512T	p.P171L	IPNQVYQPLGPCPCNLTAGACDVRC	IPNQVYQPLGPCLCNLTAGACDVRC	5.0	9.0	-	-	3466_12:124163787-124163787 C>T_IPNQVYQPLGPCLCNLTAGACDVRC
2:220473424-220473424 C>T	1.0	3466	MELANOMA	0.0005	-	-	-	STK11IP	ENST00000456909,p.R575C|ENST00000295641,p.R586C|uc010zll.2,p.R543C|uc002vml.3,p.R586C|NM_052902,p.R586C|uc002vmm.1,p.R575C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zll.2	nonsynonymous SNV	exon14	c.C1627T	p.R543C	SAHLFEVELQAARTLERLELQSLEA	SAHLFEVELQAACTLERLELQSLEA	6.0	8.0	-	-	3466_2:220473424-220473424 C>T_SAHLFEVELQAACTLERLELQSLEA
7:73635051-73635051 G>A	0.0	3466	MELANOMA	-	-	-	-	LAT2	ENST00000275635,p.E107K|uc003uag.3,p.E107K|NM_014146,p.E107K|NM_032464,p.E107K|NM_032463,p.E107K|ENST00000344995,p.E107K|uc003uah.3,p.E107K|ENST00000398475,p.E107K|ENST00000460943,p.E107K|uc003uai.3,p.E107K	retained_intron, protein_coding, nonsense_mediated_decay	uc003uai.3	nonsynonymous SNV	exon8	c.G319A	p.E107K	YQNFSKGSRHGSEEAYIDPIAMEYY	YQNFSKGSRHGSKEAYIDPIAMEYY	7.0	9.0	unscreened	-	3466_7:73635051-73635051 G>A_YQNFSKGSRHGSKEAYIDPIAMEYY
3:93803012-93803012 C>T	1.0	3466	MELANOMA	-	-	-	-	NSUN3	uc003drl.1,p.P62S|NM_022072,p.P62S|ENST00000314622,p.P62S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003drl.1	nonsynonymous SNV	exon3	c.C184T	p.P62S	WQYAVLLNRFNYPFELEKDLHLKGY	WQYAVLLNRFNYSFELEKDLHLKGY	5.0	6.0	unscreened	-	3466_3:93803012-93803012 C>T_WQYAVLLNRFNYSFELEKDLHLKGY
11:95826576-95826576 G>A	1.0	3466	MELANOMA	-	-	ID=COSM2061971;OCCURENCE=1(large_intestine)	1	MAML2	NM_032427,p.R207C|uc001pfw.1,p.R207C|ENST00000524717,p.R207C	protein_coding	uc001pfw.1	nonsynonymous SNV	exon2	c.C619T	p.R207C	FVDNSFLDIKRIRVGENLSAGQGGL	FVDNSFLDIKRICVGENLSAGQGGL	8.0	5.0	unscreened	-	3466_11:95826576-95826576 G>A_FVDNSFLDIKRICVGENLSAGQGGL
17:7578550-7578550 G>A	1.0	3466	MELANOMA	-	-	ID=COSM216414,COSM3378368,COSM44226,COSM216412,COSM216413,COSM1637542;OCCURENCE=5(ovary),2(small_intestine),6(skin),3(large_intestine),1(biliary_tract),1(urinary_tract),3(pancreas),1(stomach),3(central_nervous_system),2(oesophagus),2(upper_aerodigestive_tract),1(bone),1(thyroid),1(lung)	1	TP53	ENST00000514944,p.S34F|uc002gin.3,p.S34F	retained_intron, protein_coding, processed_transcript	uc002gin.3	nonsynonymous SNV	exon4	c.C101T	p.S34F	LWKLLPENNVLYSPALNKMFCQLAK	LWKLLPENNVLYFPALNKMFCQLAK	9.0	9.0	unscreened	-	3466_17:7578550-7578550 G>A_LWKLLPENNVLYFPALNKMFCQLAK
5:31508876-31508876 G>A	1.0	3466	MELANOMA	-	-	-	1	DROSHA	NM_001100412,p.S443F|ENST00000344624,p.S480F|ENST00000513349,p.S443F|uc003jhg.2,p.S480F|uc003jhi.2,p.S443F|NM_013235,p.S480F|ENST00000442743,p.S443F|uc003jhh.2,p.S443F|ENST00000511367,p.S480F|uc010iui.1,p.S403F	retained_intron, protein_coding, processed_transcript	uc010iui.1	nonsynonymous SNV	exon4	c.C1208T	p.S403F	PPKTKLDEDLESSSESECESDEDST	PPKTKLDEDLESFSESECESDEDST	10.0	1.0	-	-	3466_5:31508876-31508876 G>A_PPKTKLDEDLESFSESECESDEDST
1:227947039-227947039 C>T	1.0	3466	MELANOMA	-	-	ID=COSM904907;OCCURENCE=1(endometrium)	-	SNAP47	uc001hrf.2,p.R326C|NM_053052,p.R326C|uc001hrd.3,p.R326C|ENST00000366760,p.R84C|uc001hra.2,p.R84C|uc001hre.3,p.R84C|ENST00000366759,p.R326C|ENST00000315781,p.R326C	protein_coding, processed_transcript	uc001hrf.2	nonsynonymous SNV	exon3	c.C976T	p.R326C	RQRFIGKPDMAYRLISAKMPEVIPI	RQRFIGKPDMAYCLISAKMPEVIPI	8.0	8.0	-	-	3466_1:227947039-227947039 C>T_RQRFIGKPDMAYCLISAKMPEVIPI
1:21563319-21563319 C>T	1.0	3466	MELANOMA	-	-	-	-	ECE1	uc001bei.2,p.E467K|NM_001113347,p.E458K|ENST00000374893,p.E470K|ENST00000436918,p.E470K|uc010odl.1,p.E470K|NM_001113349,p.E467K|ENST00000357071,p.E458K|ENST00000264205,p.E467K|uc001bek.2,p.E470K|uc001bem.2,p.E454K|uc001bej.2,p.E458K|uc009vqa.1,p.E470K|NM_001113348,p.E454K|NM_001397,p.E470K|ENST00000415912,p.E454K	retained_intron, protein_coding, processed_transcript	uc010odl.1	nonsynonymous SNV	exon12	c.G1408A	p.E470K	EDSKSIATEIILEIKKAFEESLSTL	EDSKSIATEIILKIKKAFEESLSTL	10.0	7.0	-	-	3466_1:21563319-21563319 C>T_EDSKSIATEIILKIKKAFEESLSTL
3:148577656-148577656 C>T	0.0	3466	MELANOMA	-	-	-	-	CPB1	uc003ewl.3,p.S374F|ENST00000282957,p.S374F|ENST00000491148,p.S374F|NM_001871,p.S374F	retained_intron, protein_coding, processed_transcript	uc003ewl.3	nonsynonymous SNV	exon11	c.C1121T	p.S374F	SDDWAYDQGIRYSFTFELRDTGRYG	SDDWAYDQGIRYFFTFELRDTGRYG	1.0	3.0	unscreened	-	3466_3:148577656-148577656 C>T_SDDWAYDQGIRYFFTFELRDTGRYG
1:236973836-236973836 C>T	1.0	3466	MELANOMA	-	-	-	-	MTR	ENST00000366577,p.P148L|uc001hyi.4,p.P148L|NM_000254,p.P148L|uc010pxy.2,p.P148L|NM_001291939,p.P148L|ENST00000418145,p.P204L|ENST00000535889,p.P148L|uc010pxx.2,p.P148L	protein_coding, processed_transcript	uc010pxy.2	nonsynonymous SNV	exon5	c.C443T	p.P148L	TGIKRFVAGALGPTNKTLSVSPSVE	TGIKRFVAGALGLTNKTLSVSPSVE	10.0	8.0	-	-	3466_1:236973836-236973836 C>T_TGIKRFVAGALGLTNKTLSVSPSVE
19:536325-536325 C>T	1.0	3466	MELANOMA	-	-	-	-	CDC34	ENST00000606065,p.P57L|ENST00000215574,p.P116L|NM_004359,p.P116L|uc002lov.3,p.P116L	retained_intron, protein_coding, processed_transcript	uc002lov.3	nonsynonymous SNV	exon3	c.C347T	p.P116L	PQSGELPSERWNPTQNVRTILLSVI	PQSGELPSERWNLTQNVRTILLSVI	8.0	2.0	unscreened	-	3466_19:536325-536325 C>T_PQSGELPSERWNLTQNVRTILLSVI
3:87018231-87018231 G>A	1.0	3466	MELANOMA	-	-	ID=COSM225521;OCCURENCE=1(NS)	-	VGLL3	ENST00000383698,p.S149F|uc003dqn.3,p.S149F|NM_016206,p.S149F|ENST00000398399,p.S149F	protein_coding	uc003dqn.3	nonsynonymous SNV	exon3	c.C446T	p.S149F	SALSSQRNSFPTSFWTSSYQPPPAP	SALSSQRNSFPTFFWTSSYQPPPAP	5.0	4.0	unscreened	-	3466_3:87018231-87018231 G>A_SALSSQRNSFPTFFWTSSYQPPPAP
21:33727281-33727281 G>A	0.0	3466	MELANOMA	-	-	-	-	URB1	uc002ypn.2,p.P711L|ENST00000382751,p.P711L|NM_014825,p.P711L	retained_intron, protein_coding, processed_transcript	uc002ypn.2	nonsynonymous SNV	exon17	c.C2132T	p.P711L	FLERILLTLVANPYSYTDKASDFVQ	FLERILLTLVANLYSYTDKASDFVQ	6.0	1.0	-	-	3466_21:33727281-33727281 G>A_FLERILLTLVANLYSYTDKASDFVQ
15:89398236-89398236 C>T	1.0	3466	MELANOMA	-	-	-	-	ACAN	uc010upp.1,p.P807L|ENST00000352105,p.P807L|NM_001135,p.P807L|NM_013227,p.P807L|ENST00000561243,p.P807L|uc010upo.1,p.P807L|ENST00000439576,p.P807L|ENST00000559004,p.P807L	retained_intron, protein_coding	uc010upp.1	nonsynonymous SNV	exon12	c.C2420T	p.P807L	PSEEPSPSEEPFPSVRPFPSVELFP	PSEEPSPSEEPFLSVRPFPSVELFP	1.0	7.0	-	-	3466_15:89398236-89398236 C>T_PSEEPSPSEEPFLSVRPFPSVELFP
5:145641115-145641115 C>T	1.0	3466	MELANOMA	-	-	-	-	RBM27	uc003lnz.4,p.L646F|ENST00000265271,p.L646F|uc003lny.2,p.L591F|ENST00000506502,p.L591F|NM_018989,p.L646F	retained_intron, protein_coding, processed_transcript	uc003lnz.4	nonsynonymous SNV	exon13	c.C1936T	p.L646F	FKGDPEAALIQYLTNEEARKAISST	FKGDPEAALIQYFTNEEARKAISST	7.0	9.0	-	-	3466_5:145641115-145641115 C>T_FKGDPEAALIQYFTNEEARKAISST
8:18729235-18729235 G>A	1.0	3466	MELANOMA	-	-	-	-	PSD3	ENST00000523619,p.S315F|ENST00000327040,p.S380F|ENST00000440756,p.S380F|uc003wza.3,p.S380F|NM_015310,p.S380F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003wza.3	nonsynonymous SNV	exon3	c.C1139T	p.S380F	PSERPGTSSGTFSPVRLDESGEDEV	PSERPGTSSGTFFPVRLDESGEDEV	6.0	9.0	-	-	3466_8:18729235-18729235 G>A_PSERPGTSSGTFFPVRLDESGEDEV
2:204154591-204154591 C>T	1.0	3466	MELANOMA	-	-	-	-	CYP20A1	uc002uzv.4,p.P359S|NM_177538,p.P359S|ENST00000429815,p.P367S|uc002uzy.4,p.P257S|uc010ftw.3,p.P89S|ENST00000356079,p.P359S|uc010zif.2,p.P367S|uc002uzx.4,p.P257S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zif.2	nonsynonymous SNV	exon10	c.C1099T	p.P367S	QDIEGKIDRFIIPRETLVLYALGVV	QDIEGKIDRFIISRETLVLYALGVV	7.0	2.0	unscreened	-	3466_2:204154591-204154591 C>T_QDIEGKIDRFIISRETLVLYALGVV
22:46835150-46835150 G>A	1.0	3466	MELANOMA	-	-	ID=COSM232019;OCCURENCE=1(skin)	-	CELSR1	ENST00000262738,p.P1448S|NM_014246,p.P1448S|uc003bhw.1,p.P1448S	retained_intron, protein_coding, processed_transcript	uc003bhw.1	nonsynonymous SNV	exon3	c.C4342T	p.P1448S	ERPYCEVTTRSFPPQSFVTFRGLRQ	ERPYCEVTTRSFSPQSFVTFRGLRQ	9.0	4.0	-	-	3466_22:46835150-46835150 G>A_ERPYCEVTTRSFSPQSFVTFRGLRQ
3:37034267-37034267 C>A	1.0	3466	MELANOMA	-	-	-	-	EPM2AIP1	NM_014805,p.G101V|uc003cgk.3,p.G101V|ENST00000322716,p.G101V	protein_coding	uc003cgk.3	nonsynonymous SNV	exon1	c.G302T	p.G101V	ASFTPEERAARAGLGLCRLLALKGR	ASFTPEERAARAVLGLCRLLALKGR	7.0	3.0	unscreened	-	3466_3:37034267-37034267 C>A_ASFTPEERAARAVLGLCRLLALKGR
8:144994612-144994612 G>A	1.0	3466	MELANOMA	-	-	-	-	PLEC	NM_201384,p.P3126L|NM_000445,p.P3153L|uc003zae.1,p.P3094L|uc003zab.1,p.P3126L|NM_201383,p.P3130L|NM_201379,p.P3104L|NM_201378,p.P3112L|ENST00000322810,p.P3263L|ENST00000345136,p.P3126L|ENST00000398774,p.P3094L|uc003zaf.1,p.P3263L|uc003zaj.2,p.P3153L|uc003zah.2,p.P3112L|ENST00000356346,p.P3112L|ENST00000354958,p.P3104L|uc003zac.1,p.P3130L|uc003zad.2,p.P3126L|ENST00000436759,p.P3153L|NM_201382,p.P3126L|ENST00000527096,p.P3149L|ENST00000357649,p.P3130L|NM_201380,p.P3263L|ENST00000354589,p.P3126L|uc003zag.1,p.P3104L|NM_201381,p.P3094L	retained_intron, protein_coding	uc003zaj.2	nonsynonymous SNV	exon33	c.C9458T	p.P3153L	VSLFQALKKGLIPREQGLRLLDAQL	VSLFQALKKGLILREQGLRLLDAQL	10.0	1.0	-	-	3466_8:144994612-144994612 G>A_VSLFQALKKGLILREQGLRLLDAQL
7:129064934-129064934 C>T, 7:129064935-129064935 C>T	1.0	3466	MELANOMA	-	-	-	-	AHCYL2	ENST00000531335,p.P473S|NM_001130723,p.P451S|ENST00000490911,p.P451S|NM_001130720,p.P553S|uc003vot.3,p.P553S|NM_015328,p.P554S|ENST00000325006,p.P554S|ENST00000446544,p.P553S|uc003vov.3,p.P451S|uc011kov.2,p.P554S|uc011kox.2,p.P451S|ENST00000474594,p.P451S|ENST00000446212,p.P452S|NM_001130722,p.P451S	retained_intron, protein_coding, processed_transcript	uc011kox.2	nonsynonymous SNV	exon15	c.C1351T	p.P451S	TQALALIELYNAPEGRYKQDVYLLP	TQALALIELYNAFEGRYKQDVYLLP	7.0	9.0	unscreened	Dinucleotide variant, 7:129064935-129064935 C>T, residue 13 P>F PR	3466_7:129064934-129064934 C>T, 7:129064935-129064935 C>T_TQALALIELYNAFEGRYKQDVYLLP
4:47561023-47561023 C>T	1.0	3466	MELANOMA	-	-	-	-	ATP10D	uc003gxk.1,p.R840C|NM_020453,p.R840C|ENST00000273859,p.R840C|uc003gxl.1,p.R88C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gxl.1	nonsynonymous SNV	exon6	c.C262T	p.R88C	QKHLDDYAKQGLRTLCIAKKVMSDT	QKHLDDYAKQGLCTLCIAKKVMSDT	7.0	9.0	unscreened	-	3466_4:47561023-47561023 C>T_QKHLDDYAKQGLCTLCIAKKVMSDT
22:50191747-50191747 G>A	1.0	3466	MELANOMA	-	-	-	-	BRD1	ENST00000542442,p.H290Y|uc011arg.2,p.H651Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011arg.2	nonsynonymous SNV	exon6	c.C1951T	p.H651Y	RIFAQPVPDYLDHIKHPMDFATMRK	RIFAQPVPDYLDYIKHPMDFATMRK	9.0	6.0	unscreened	-	3466_22:50191747-50191747 G>A_RIFAQPVPDYLDYIKHPMDFATMRK
19:1799739-1799739 G>A	1.0	3466	MELANOMA	-	-	-	-	ATP8B3	uc002ltz.2,p.P534S|ENST00000526092,p.P534S|uc002lty.1,p.P335S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ltz.2	nonsynonymous SNV	exon14	c.C1600T	p.P534S	FFFFEAESHSVYPGRNAVVQSWLTA	FFFFEAESHSVYSGRNAVVQSWLTA	7.0	7.0	unscreened	-	3466_19:1799739-1799739 G>A_FFFFEAESHSVYSGRNAVVQSWLTA
12:65564757-65564757 G>A	1.0	3466	MELANOMA	-	-	-	-	LEMD3	uc009zqo.2,p.E461K|NM_001167614,p.E461K|uc001ssl.2,p.E461K|ENST00000308330,p.E461K|NM_014319,p.E461K	retained_intron, protein_coding, processed_transcript	uc009zqo.2	nonsynonymous SNV	exon1	c.G1381A	p.E461K	PEEELLQQFKREEVSPTGSFSAHYL	PEEELLQQFKREKVSPTGSFSAHYL	7.0	9.0	unscreened	-	3466_12:65564757-65564757 G>A_PEEELLQQFKREKVSPTGSFSAHYL
3:171394511-171394511 G>A	1.0	3466	MELANOMA	-	-	-	-	PLD1	ENST00000342215,p.S594L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000342215	nonsynonymous SNV	exon16	c.C1781T	p.S594L	VMWHVTSSSAGTSQKL	VMWHVTSSSAGTLQKL	6.0	4.0	unscreened	-	3466_3:171394511-171394511 G>A_VMWHVTSSSAGTLQKL
7:111484820-111484820 G>A, 7:111484821-111484821 T>A	0.0	3466	MELANOMA	-	-	-	-	DOCK4	uc003vfw.3,p.T353S|NM_014705,p.T912S|uc003vfx.3,p.T912S|ENST00000437633,p.T912S|ENST00000428084,p.T912S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vfx.3	nonsynonymous SNV	exon25	c.A2734T	p.T912S	SSSAMRFQFQDVTGEFVACLLSLLR	SSSAMRFQFQDVFGEFVACLLSLLR	7.0	7.0	unscreened	Dinucleotide variant, 7:111484820-111484820 G>A, residue 13 T>F PR	3466_7:111484820-111484820 G>A, 7:111484821-111484821 T>A_SSSAMRFQFQDVFGEFVACLLSLLR
10:61956379-61956379 C>T	1.0	3466	MELANOMA	-	-	-	-	ANK3	uc001jkz.4,p.G559E|ENST00000503366,p.G548E|uc001jlb.1,p.G94E|ENST00000280772,p.G565E|NM_001204403,p.G559E|uc010qih.2,p.G548E|uc001jky.3,p.G565E|NM_020987,p.G565E|ENST00000373827,p.G559E|NM_001204404,p.G548E|uc001jlc.1,p.G226E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qih.2	nonsynonymous SNV	exon15	c.G1643A	p.G548E	DHGASLSITTKKGFTPLHVAAKYGK	DHGASLSITTKKEFTPLHVAAKYGK	5.0	4.0	-	-	3466_10:61956379-61956379 C>T_DHGASLSITTKKEFTPLHVAAKYGK
22:40708918-40708918 C>T	1.0	3466	MELANOMA	-	-	-	-	TNRC6B	uc003aym.3,p.S728F|uc011aor.2,p.S1532F|uc003ayn.4,p.S1422F|ENST00000402203,p.S728F|ENST00000301923,p.S728F|ENST00000454349,p.S1532F|uc003ayo.3,p.S1279F|NM_015088,p.S1422F|ENST00000335727,p.S1422F|NM_001162501,p.S1532F|NM_001024843,p.S728F|uc031rxt.1,p.S728F	retained_intron, protein_coding, processed_transcript	uc031rxt.1	nonsynonymous SNV	exon20	c.C2183T	p.S728F	QLLRDNTTGSNSSLNTSLPSPGAWP	QLLRDNTTGSNSFLNTSLPSPGAWP	8.0	4.0	-	-	3466_22:40708918-40708918 C>T_QLLRDNTTGSNSFLNTSLPSPGAWP
1:16464527-16464527 G>A	1.0	3466	MELANOMA	-	-	-	-	EPHA2	NM_004431,p.P378L|ENST00000358432,p.P378L|uc010oca.2,p.P378L|uc001aya.2,p.P378L	protein_coding, processed_transcript	uc010oca.2	nonsynonymous SNV	exon5	c.C1133T	p.P378L	CEQCWPESGECGPCEASVRYSEPPH	CEQCWPESGECGLCEASVRYSEPPH	7.0	2.0	-	-	3466_1:16464527-16464527 G>A_CEQCWPESGECGLCEASVRYSEPPH
19:39088225-39088225 G>T	0.0	3466	MELANOMA	-	-	-	-	MAP4K1	uc002oix.1,p.P560H|uc002oiy.1,p.P560H|ENST00000591517,p.P560H|NM_001042600,p.P560H|ENST00000589130,p.P556H|ENST00000396857,p.P560H|NM_007181,p.P560H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002oiy.1	nonsynonymous SNV	exon23	c.C1679A	p.P560H	INNVLMSLSGKTPHLYSHSILGLLE	INNVLMSLSGKTHHLYSHSILGLLE	5.0	7.0	unscreened	-	3466_19:39088225-39088225 G>T_INNVLMSLSGKTHHLYSHSILGLLE
5:39110480-39110480 G>A	0.0	3466	MELANOMA	-	-	-	-	FYB	uc003jlu.3,p.L759F|ENST00000505428,p.L805F|ENST00000540520,p.L815F|NM_001243093,p.L815F|ENST00000351578,p.L759F|ENST00000512982,p.L805F|ENST00000515010,p.L759F|uc003jlt.3,p.L805F|NM_001465,p.L805F|uc011cpl.2,p.L815F|NM_199335,p.L759F|uc003jls.3,p.L759F	protein_coding, processed_transcript	uc011cpl.2	nonsynonymous SNV	exon17	c.C2443T	p.L815F	LCRNEEGKYGYVLRSYLADNDGEIY	LCRNEEGKYGYVFRSYLADNDGEIY	9.0	6.0	unscreened	-	3466_5:39110480-39110480 G>A_LCRNEEGKYGYVFRSYLADNDGEIY
2:179600777-179600777 G>A	0.0	3466	MELANOMA	-	-	-	-	TTN	ENST00000591111,p.S4482F|uc002umz.1,p.S216F|uc021vsy.2,p.S3555F|NM_001267550,p.S4799F|NM_133378,p.S3555F|ENST00000589042,p.S4799F|uc031rqd.1,p.S4482F|NM_001256850,p.S4482F|uc031rqc.1,p.S4799F|ENST00000342992,p.S3555F	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon48	c.C13445T	p.S4482F	LTVTEAYPPTFLSRPKSLTTFVGKA	LTVTEAYPPTFLFRPKSLTTFVGKA	5.0	3.0	unscreened	-	3466_2:179600777-179600777 G>A_LTVTEAYPPTFLFRPKSLTTFVGKA
10:103750324-103750324 G>A	1.0	3466	MELANOMA	-	-	-	-	C10orf76	NM_024541,p.P464S|ENST00000370033,p.P464S|uc009xwy.1,p.P464S	protein_coding, processed_transcript	uc009xwy.1	nonsynonymous SNV	exon19	c.C1390T	p.P464S	VEFIVTHMMKEFPMDLYIRCIQVVH	VEFIVTHMMKEFSMDLYIRCIQVVH	5.0	2.0	unscreened	-	3466_10:103750324-103750324 G>A_VEFIVTHMMKEFSMDLYIRCIQVVH
12:132626063-132626063 G>A	1.0	3466	MELANOMA	-	-	-	-	DDX51	ENST00000397333,p.L362F|uc001ujy.4,p.L362F|NM_175066,p.L362F	retained_intron, protein_coding	uc001ujy.4	nonsynonymous SNV	exon7	c.C1084T	p.L362F	LVDHIDQTPGFSLQQLRFLIIDEAD	LVDHIDQTPGFSFQQLRFLIIDEAD	7.0	9.0	unscreened	-	3466_12:132626063-132626063 G>A_LVDHIDQTPGFSFQQLRFLIIDEAD
6:30632700-30632700 G>A	1.0	3466	MELANOMA	-	-	-	-	DHX16	uc011dmo.2,p.L339F|uc003nqz.3,p.L399F|NM_001164239,p.L339F|NM_003587,p.L399F|ENST00000376442,p.L399F	protein_coding, processed_transcript	uc011dmo.2	nonsynonymous SNV	exon7	c.C1015T	p.L339F	QQKESIQAVRRSLPVFPFREELLAA	QQKESIQAVRRSFPVFPFREELLAA	8.0	9.0	unscreened	-	3466_6:30632700-30632700 G>A_QQKESIQAVRRSFPVFPFREELLAA
17:49052135-49052135 G>A	1.0	3466	MELANOMA	-	-	-	-	SPAG9	uc002ita.3,p.P1089S|NM_001251971,p.P1089S|NM_003971,p.P1219S|ENST00000357122,p.P1219S|uc002itb.3,p.P1219S|NM_001130528,p.P1233S|ENST00000505279,p.P1223S|uc002itc.3,p.P1233S|uc002itd.3,p.P1223S|NM_001130527,p.P1223S|ENST00000510283,p.P1089S|ENST00000262013,p.P1233S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002itd.3	nonsynonymous SNV	exon28	c.C3667T	p.P1223S	GHRDAVKFFVAVPGQVISPQSSSSG	GHRDAVKFFVAVSGQVISPQSSSSG	10.0	9.0	unscreened	-	3466_17:49052135-49052135 G>A_GHRDAVKFFVAVSGQVISPQSSSSG
10:75158116-75158116 G>A	1.0	3466	MELANOMA	-	-	-	-	ANXA7	uc009xre.3,p.P28S	protein_coding, processed_transcript	uc009xre.3	nonsynonymous SNV	exon3	c.C82T	p.P28S	GYPPAGQESSFPPSGFSGYPQPPSQ	GYPPAGQESSFPSSGFSGYPQPPSQ	10.0	6.0	-	-	3466_10:75158116-75158116 G>A_GYPPAGQESSFPSSGFSGYPQPPSQ
9:80943089-80943089 C>A	1.0	3466	MELANOMA	-	-	-	-	PSAT1	ENST00000376588,p.S331Y|uc004ala.3,p.S331Y|NM_058179,p.S331Y	protein_coding	uc004ala.3	nonsynonymous SNV	exon8	c.C992A	p.S331Y	RFLDKALELNMLSLKGHRSVGGIRA	RFLDKALELNMLYLKGHRSVGGIRA	6.0	9.0	-	-	3466_9:80943089-80943089 C>A_RFLDKALELNMLYLKGHRSVGGIRA
1:235345320-235345320 C>T	1.0	3466	MELANOMA	-	-	-	-	ARID4B	uc021pks.1,p.V972M|uc001hwr.3,p.V886M|uc001hwt.4,p.V653M|NM_016374,p.V972M|uc001hws.4,p.V886M|ENST00000421364,p.V972M|NM_031371,p.V886M|ENST00000349213,p.V886M|NM_001206794,p.V972M|uc001hwq.3,p.V972M|ENST00000264183,p.V972M|ENST00000366603,p.V972M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pks.1	nonsynonymous SNV	exon20	c.G2914A	p.V972M	PEEGVAEESLQTVAEEESCSPSVEL	PEEGVAEESLQTMAEEESCSPSVEL	10.0	3.0	-	-	3466_1:235345320-235345320 C>T_PEEGVAEESLQTMAEEESCSPSVEL
19:15366227-15366227 G>A	1.0	3466	MELANOMA	-	-	-	1	BRD4	uc002nas.3,p.S643F|NM_014299,p.S643F|ENST00000360016,p.S643F|uc002nat.3,p.S643F|NM_058243,p.S643F|ENST00000371835,p.S643F|uc002nar.3,p.S643F|ENST00000263377,p.S643F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nat.3	nonsynonymous SNV	exon10	c.C1928T	p.S643F	GRVVHIIQSREPSLKNSNPDEIEID	GRVVHIIQSREPFLKNSNPDEIEID	10.0	7.0	-	-	3466_19:15366227-15366227 G>A_GRVVHIIQSREPFLKNSNPDEIEID
19:13065087-13065087 G>C	1.0	3466	MELANOMA	-	-	-	-	GADD45GIP1	ENST00000316939,p.R202G|NM_052850,p.R202G|uc002mwb.4,p.R202G	protein_coding	uc002mwb.4	nonsynonymous SNV	exon2	c.C604G	p.R202G	LKEEKQKRKKEARAAALAAAVAQDP	LKEEKQKRKKEAGAAALAAAVAQDP	8.0	1.0	unscreened	-	3466_19:13065087-13065087 G>C_LKEEKQKRKKEAGAAALAAAVAQDP
3:50129548-50129548 C>T	1.0	3466	MELANOMA	-	-	-	-	RBM5	uc011bdj.2,p.P8L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bdj.2	nonsynonymous SNV	exon3	c.C23T	p.P8L	MTVMSVNPEAGGGTQITKDL	MTVMSVNLEAGGGTQITKDL	10.0	6.0	-	-	3466_3:50129548-50129548 C>T_MTVMSVNLEAGGGTQITKDL
3:111604138-111604138 C>T	1.0	3466	MELANOMA	-	-	ID=COSM348026,COSM348025;OCCURENCE=1(lung)	-	PHLDB2	NM_001134439,p.P405L|ENST00000431670,p.P405L|ENST00000393925,p.P405L|uc003dye.4,p.P405L|NM_001134437,p.P432L|uc003dyh.3,p.P405L|ENST00000498699,p.P405L|uc003dyg.3,p.P405L|uc010hqa.3,p.P405L|uc003dyd.3,p.P405L|NM_001134438,p.P405L|ENST00000478922,p.P405L|NM_145753,p.P405L|ENST00000477695,p.P405L|uc003dyc.3,p.P432L|ENST00000393923,p.P432L|uc003dyf.4,p.P405L|ENST00000481953,p.P405L|ENST00000412622,p.P405L	retained_intron, protein_coding, processed_transcript	uc010hqa.3	nonsynonymous SNV	exon2	c.C1214T	p.P405L	ADLESLRQASGTPQPALRERKSSIS	ADLESLRQASGTLQPALRERKSSIS	8.0	4.0	unscreened	-	3466_3:111604138-111604138 C>T_ADLESLRQASGTLQPALRERKSSIS
3:53160001-53160001 G>A	0.0	3466	MELANOMA	-	-	-	-	RFT1	ENST00000394738,p.R25W|ENST00000467048,p.R25W|NM_052859,p.R25W|ENST00000296292,p.R25W|uc003dgj.3,p.R25W	retained_intron, protein_coding	uc003dgj.3	nonsynonymous SNV	exon2	c.C73T	p.R25W	LASSGLLLQVLFRLITFVLNAFILR	LASSGLLLQVLFWLITFVLNAFILR	5.0	6.0	unscreened	-	3466_3:53160001-53160001 G>A_LASSGLLLQVLFWLITFVLNAFILR
16:58617084-58617084 A>G	1.0	3466	MELANOMA	-	-	-	-	CNOT1	uc002enx.4,p.I270T|NM_206999,p.I270T|NM_001265612,p.I270T|ENST00000567188,p.I270T|ENST00000317147,p.I270T|ENST00000441024,p.I270T|ENST00000569240,p.I270T|NM_016284,p.I270T|uc002env.4,p.I270T|uc002enu.5,p.I270T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002enx.4	nonsynonymous SNV	exon9	c.T809C	p.I270T	FMQEVGYGFCASIEECRNIIVQFGV	FMQEVGYGFCASTEECRNIIVQFGV	10.0	2.0	-	-	3466_16:58617084-58617084 A>G_FMQEVGYGFCASTEECRNIIVQFGV
5:64824311-64824311 G>A	1.0	3466	MELANOMA	-	-	ID=COSM1718389;OCCURENCE=2(NS)	-	CENPK	ENST00000396679,p.P189S|ENST00000242872,p.P189S|NM_022145,p.P189S|uc003jts.3,p.P189S|uc003jtu.3,p.P189S|ENST00000510693,p.P126S|NM_001267038,p.P189S|ENST00000508421,p.P159S|ENST00000514814,p.P189S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jtu.3	nonsynonymous SNV	exon9	c.C565T	p.P189S	LSTLGEFLEDHFPLPDRSVKKKKKN	LSTLGEFLEDHFSLPDRSVKKKKKN	7.0	9.0	-	-	3466_5:64824311-64824311 G>A_LSTLGEFLEDHFSLPDRSVKKKKKN
3:194343960-194343960 G>A	1.0	3466	MELANOMA	-	-	-	-	TMEM44	ENST00000330115,p.S99F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000330115	nonsynonymous SNV	exon5	c.C296T	p.S99F	AFGSWASRIPPLSRIVRPGVGMGLW	AFGSWASRIPPLFRIVRPGVGMGLW	5.0	4.0	unscreened	-	3466_3:194343960-194343960 G>A_AFGSWASRIPPLFRIVRPGVGMGLW
14:90446940-90446940 A>G	1.0	3466	MELANOMA	-	-	-	-	TDP1	NM_018319,p.N283S|ENST00000557782,p.N31S|ENST00000335725,p.N283S|NM_001008744,p.N283S|ENST00000553617,p.N184S|ENST00000393454,p.N283S|uc010atn.3,p.N283S|uc001xxz.3,p.N283S|uc001xya.3,p.N44S|ENST00000545686,p.N283S|ENST00000357382,p.N44S|ENST00000393452,p.N283S|uc001xxy.3,p.N283S|ENST00000555880,p.N283S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010atn.3	nonsynonymous SNV	exon8	c.A848G	p.N283S	YEEGLRVVIHTSNLIHADWHQKTQG	YEEGLRVVIHTSSLIHADWHQKTQG	8.0	9.0	unscreened	-	3466_14:90446940-90446940 A>G_YEEGLRVVIHTSSLIHADWHQKTQG
7:72952277-72952277 G>A	1.0	3466	MELANOMA	-	-	-	-	BCL7B	NM_001197244,p.P111L|NM_001301061,p.P179L|ENST00000223368,p.P168L|uc031sxv.1,p.P108L|NM_001707,p.P168L|uc003tyg.2,p.P111L|uc003tyf.2,p.P168L|ENST00000411832,p.P111L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031sxv.1	nonsynonymous SNV	exon2	c.C323T	p.P108L	DEPPTLTKEEPVPLETQVVEEEEDS	DEPPTLTKEEPVLLETQVVEEEEDS	9.0	8.0	-	-	3466_7:72952277-72952277 G>A_DEPPTLTKEEPVLLETQVVEEEEDS
1:86048224-86048224 G>C	1.0	3466	MELANOMA	-	-	-	-	CYR61	ENST00000451137,p.D254H|NM_001554,p.D254H|uc001dle.3,p.D254H	protein_coding, processed_transcript	uc001dle.3	nonsynonymous SNV	exon4	c.G760C	p.D254H	TCGTGISTRVTNDNPECRLVKETRI	TCGTGISTRVTNHNPECRLVKETRI	10.0	5.0	-	-	3466_1:86048224-86048224 G>C_TCGTGISTRVTNHNPECRLVKETRI
4:78669521-78669521 G>A	1.0	3466	MELANOMA	-	-	-	-	CNOT6L	uc003hks.3,p.P170S|NM_001286790,p.P170S|uc011ccd.2,p.P170S|uc011cce.1,p.P170S|ENST00000512485,p.P177S|ENST00000504123,p.P170S|uc003hkt.1,p.P13S|NM_144571,p.P170S|ENST00000264903,p.P170S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cce.1	nonsynonymous SNV	exon6	c.C508T	p.P170S	MLDNLAVHPEQLPPRPWITLKERDQ	MLDNLAVHPEQLSPRPWITLKERDQ	6.0	6.0	unscreened	-	3466_4:78669521-78669521 G>A_MLDNLAVHPEQLSPRPWITLKERDQ
17:7578550-7578550 G>A	1.0	3466	MELANOMA	-	-	ID=COSM216414,COSM3378368,COSM44226,COSM216412,COSM216413,COSM1637542;OCCURENCE=5(ovary),2(small_intestine),6(skin),3(large_intestine),1(biliary_tract),1(urinary_tract),3(pancreas),1(stomach),3(central_nervous_system),2(oesophagus),2(upper_aerodigestive_tract),1(bone),1(thyroid),1(lung)	1	TP53	NM_001126113,p.S127F|uc002gij.3,p.S88F|NM_001276761,p.S88F|ENST00000413465,p.S127F|NM_001276760,p.S88F|ENST00000508793,p.S127F|uc002gih.3,p.S127F|NM_001276695,p.S88F|ENST00000455263,p.S127F|uc031qyq.1,p.S88F|ENST00000269305,p.S127F|ENST00000359597,p.S127F|NM_001126112,p.S127F|ENST00000420246,p.S127F|NM_001126118,p.S88F|NM_001276696,p.S88F|NM_001126114,p.S127F|uc010vug.3,p.S88F|uc002gig.1,p.S127F|NM_000546,p.S127F|ENST00000445888,p.S127F	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon4	c.C263T	p.S88F	HSGTAKSVTCTYSPALNKMFCQLAK	HSGTAKSVTCTYFPALNKMFCQLAK	9.0	9.0	-	-	3466_17:7578550-7578550 G>A_HSGTAKSVTCTYFPALNKMFCQLAK
15:50226250-50226250 G>A	0.0	3466	MELANOMA	-	-	-	-	ATP8B4	uc001zxu.3,p.L473F|uc010ber.3,p.L346F|NM_024837,p.L473F|ENST00000284509,p.L473F|ENST00000557955,p.L473F|ENST00000559829,p.L473F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ber.3	nonsynonymous SNV	exon16	c.C1036T	p.L346F	DPKVHEFLRLLALCHTVMSEENSAG	DPKVHEFLRLLAFCHTVMSEENSAG	5.0	8.0	unscreened	-	3466_15:50226250-50226250 G>A_DPKVHEFLRLLAFCHTVMSEENSAG
14:77751861-77751861 A>C	1.0	3466	MELANOMA	-	-	-	-	POMT2	NM_013382,p.C483G|uc001xti.2,p.C483G|uc001xth.1,p.C181G|ENST00000261534,p.C483G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xti.2	nonsynonymous SNV	exon13	c.T1447G	p.C483G	RSRIRFIHLVTGCVLGSSGKVLPKW	RSRIRFIHLVTGGVLGSSGKVLPKW	9.0	4.0	unscreened	-	3466_14:77751861-77751861 A>C_RSRIRFIHLVTGGVLGSSGKVLPKW
16:70726751-70726751 A>C	1.0	3466	MELANOMA	-	-	-	-	VAC14	uc010cfw.3,p.V486G|ENST00000536184,p.V152G|uc002ezn.3,p.V285G|uc002ezl.3,p.V152G|uc002ezm.3,p.V720G|ENST00000261776,p.V720G|NM_018052,p.V720G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cfw.3	nonsynonymous SNV	exon17	c.T1457G	p.V486G	SAFQLLSHRLQCVPNPELLQTEDSL	SAFQLLSHRLQCGPNPELLQTEDSL	7.0	4.0	unscreened	-	3466_16:70726751-70726751 A>C_SAFQLLSHRLQCGPNPELLQTEDSL
14:68934946-68934946 G>A	1.0	3466	MELANOMA	-	-	-	1	RAD51B	uc001xkf.2,p.E339K|ENST00000487270,p.E339K|NM_133509,p.E339K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xkf.2	nonsynonymous SNV	exon10	c.G1015A	p.E339K	LAPFTSFVYTIKEEGLVLQETTFCS	LAPFTSFVYTIKKEGLVLQETTFCS	6.0	6.0	unscreened	-	3466_14:68934946-68934946 G>A_LAPFTSFVYTIKKEGLVLQETTFCS
19:17323022-17323022 C>T	1.0	3466	MELANOMA	-	-	-	-	MYO9B	ENST00000594824,p.P2126L|uc010eak.3,p.P2126L|NM_004145,p.P2126L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010eak.3	nonsynonymous SNV	exon40	c.C6377T	p.P2126L	PGADLPVQGALEPLEEDGQPPGAKR	PGADLPVQGALELLEEDGQPPGAKR	10.0	8.0	-	-	3466_19:17323022-17323022 C>T_PGADLPVQGALELLEEDGQPPGAKR
1:179198498-179198498 G>A, 1:179198499-179198499 G>A	1.0	3466	MELANOMA	-	-	-	1	ABL2	uc009wxe.3,p.P12L|uc001gmj.4,p.P12L|NM_001168237,p.P12L|NM_001168236,p.P12L|uc010png.2,p.P12L|ENST00000511413,p.P12L|ENST00000392043,p.P12L|NM_001168238,p.P12L|NM_007314,p.P12L|ENST00000507173,p.P12L|uc010pnf.2,p.P12L|NM_001136001,p.P12L|ENST00000367623,p.P12L|ENST00000502732,p.P12L|uc010pnh.2,p.P12L	retained_intron, protein_coding	uc010pnh.2	nonsynonymous SNV	exon1	c.C35T	p.P12L	MGQQVGRVGEAPGLQQPQPRGIRG	MGQQVGRVGEALGLQQPQPRGIRG	10.0	8.0	unscreened	Dinculeotide variant, 1:179198499-179198499 G>A, residue 13 P>L PR	3466_1:179198498-179198498 G>A, 1:179198499-179198499 G>A_MGQQVGRVGEALGLQQPQPRGIRG
3:151056578-151056578 C>T	1.0	3466	MELANOMA	-	-	-	-	P2RY12	NM_176876,p.R19K|ENST00000302632,p.R19K|uc021xga.1,p.R19K|uc003eyx.1,p.R19K|uc011boa.2,p.R19K|NM_022788,p.R19K|uc003eyw.1,p.R19K	retained_intron, protein_coding	uc021xga.1	nonsynonymous SNV	exon1	c.G56A	p.R19K	LTSAPGNTSLCTRDYKITQVLFPLL	LTSAPGNTSLCTKDYKITQVLFPLL	6.0	3.0	unscreened	-	3466_3:151056578-151056578 C>T_LTSAPGNTSLCTKDYKITQVLFPLL
12:77417923-77417923 G>A	1.0	3466	MELANOMA	-	-	-	-	E2F7	uc009zse.3,p.S215L|ENST00000416496,p.S728L	retained_intron, protein_coding, nonsense_mediated_decay	uc009zse.3	nonsynonymous SNV	exon3	c.C644T	p.S215L	SSSDPQEHPTHTS	SSSDPQEHPTHTL	6.0	9.0	unscreened	-	3466_12:77417923-77417923 G>A_SSSDPQEHPTHTL
5:886726-886726 G>A	1.0	3466	MELANOMA	-	-	-	-	BRD9	ENST00000467963,p.P272S|uc003jbq.3,p.P272S|ENST00000483173,p.P219S|NM_023924,p.P272S|uc003jbl.3,p.P156S|ENST00000435709,p.P156S|uc003jbo.3,p.P176S|ENST00000489093,p.P176S|ENST00000388890,p.P156S|ENST00000323510,p.P176S|NM_001009877,p.P219S|uc011cmb.2,p.P219S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cmb.2	nonsynonymous SNV	exon7	c.C655T	p.P219S	PVQVETAKKSKKPSREVISCMFEPE	PVQVETAKKSKKSSREVISCMFEPE	7.0	7.0	-	-	3466_5:886726-886726 G>A_PVQVETAKKSKKSSREVISCMFEPE
19:39591933-39591933 G>A	1.0	3466	MELANOMA	-	-	-	-	PAPL	NM_001004318,p.D327N	protein_coding, nonsense_mediated_decay	NM_001004318	nonsynonymous SNV	exon10	c.G979A	p.D327N	YGLEDLFYKYGVDLQLWAHEHSYER	YGLEDLFYKYGVNLQLWAHEHSYER	3.0	3.0	unscreened	-	3466_19:39591933-39591933 G>A_YGLEDLFYKYGVNLQLWAHEHSYER
18:10702082-10702082 G>A	1.0	3466	MELANOMA	-	-	-	-	PIEZO2	ENST00000302079,p.P2003S|ENST00000503781,p.P2003S|uc002kos.2,p.P2003S|ENST00000580640,p.P2028S|NM_022068,p.P2003S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kos.2	nonsynonymous SNV	exon39	c.C6007T	p.P2003S	KNVEVNKDKPYHPPNIIGVEKKEGY	KNVEVNKDKPYHSPNIIGVEKKEGY	8.0	3.0	unscreened	-	3466_18:10702082-10702082 G>A_KNVEVNKDKPYHSPNIIGVEKKEGY
2:105897167-105897167 C>T	1.0	3466	MELANOMA	-	-	-	-	TGFBRAP1	uc010fjc.3,p.D149N|ENST00000258449,p.D379N|uc002tcr.4,p.D379N|NM_004257,p.D379N|ENST00000393359,p.D379N|uc002tcq.3,p.D379N|NM_001142621,p.D379N	protein_coding	uc010fjc.3	nonsynonymous SNV	exon4	c.G445A	p.D149N	LEAKELFRSGQLDVRELISLYPFLL	LEAKELFRSGQLNVRELISLYPFLL	7.0	9.0	-	-	3466_2:105897167-105897167 C>T_LEAKELFRSGQLNVRELISLYPFLL
12:7635337-7635337 G>A	0.0	3466	MELANOMA	-	-	-	-	CD163	ENST00000432237,p.S1050F|ENST00000541972,p.S1038F|uc009zfw.2,p.S1083F|uc001qsz.3,p.S1050F|NM_203416,p.S1050F|NM_004244,p.S1050F|ENST00000359156,p.S1050F|uc001qta.3,p.S1050F|ENST00000396620,p.S1083F	retained_intron, protein_coding, processed_transcript	uc009zfw.2	nonsynonymous SNV	exon13	c.C3248T	p.S1083F	QKATTGRSSRQSSFIAVGILGVVLL	QKATTGRSSRQSFFIAVGILGVVLL	10.0	5.0	unscreened	-	3466_12:7635337-7635337 G>A_QKATTGRSSRQSFFIAVGILGVVLL
15:50226250-50226250 G>A	0.0	3466	MELANOMA	-	-	-	-	ATP8B4	uc010ufd.2,p.L346F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ufd.2	nonsynonymous SNV	exon16	c.C1036T	p.L346F	DPKVHEFLRLLALCHTVMSEENSAV	DPKVHEFLRLLAFCHTVMSEENSAV	5.0	8.0	unscreened	-	3466_15:50226250-50226250 G>A_DPKVHEFLRLLAFCHTVMSEENSAV
7:1192867-1192867 G>C	0.0	3466	MELANOMA	-	-	-	-	ZFAND2A	uc003skd.4,p.S98C|ENST00000397083,p.S98C	retained_intron, protein_coding, processed_transcript	uc003skd.4	nonsynonymous SNV	exon5	c.C293G	p.S98C	SHPGKKKEKSLCSLRFLHTVAQKRA	SHPGKKKEKSLCCLRFLHTVAQKRA	7.0	9.0	unscreened	-	3466_7:1192867-1192867 G>C_SHPGKKKEKSLCCLRFLHTVAQKRA
19:51919277-51919277 G>A	0.0	3466	MELANOMA	-	-	-	-	SIGLEC10	uc002pwr.3,p.P300L|ENST00000353836,p.P300L|ENST00000339313,p.P300L|uc002pwq.3,p.P242L|NM_033130,p.P300L|ENST00000436984,p.P252L|NM_001171159,p.P242L|NM_001171157,p.P300L|ENST00000529627,p.P114L|NM_001171156,p.P242L|ENST00000439889,p.P242L|uc002pwo.3,p.P300L|ENST00000432469,p.P217L|uc010eow.3,p.P112L|ENST00000356298,p.P300L|NM_001171158,p.P252L|ENST00000441969,p.P242L|uc010ycz.2,p.P252L|uc002pwp.3,p.P242L	retained_intron, protein_coding	uc010ycz.2	nonsynonymous SNV	exon5	c.C755T	p.P252L	WVLQNRVLSSSHPWGPRPLGLELPG	WVLQNRVLSSSHLWGPRPLGLELPG	6.0	3.0	unscreened	-	3466_19:51919277-51919277 G>A_WVLQNRVLSSSHLWGPRPLGLELPG
5:31317908-31317908 C>T	1.0	3466	MELANOMA	-	-	-	-	CDH6	uc003jhd.2,p.R587W|NM_004932,p.R587W|uc003jhe.2,p.R587W|ENST00000514738,p.R532W|ENST00000265071,p.R587W	retained_intron, protein_coding	uc003jhe.2	nonsynonymous SNV	exon11	c.C1759T	p.R587W	YPVQSSTGTVTVRVCACDHHGNMQS	YPVQSSTGTVTVWVCACDHHGNMQS	10.0	1.0	unscreened	-	3466_5:31317908-31317908 C>T_YPVQSSTGTVTVWVCACDHHGNMQS
12:133306847-133306847 G>A	1.0	3466	MELANOMA	-	-	-	-	ANKLE2	uc001ukx.2,p.S634F|ENST00000539605,p.S572F|ENST00000357997,p.S634F|NM_015114,p.S634F	retained_intron, protein_coding, processed_transcript	uc001ukx.2	nonsynonymous SNV	exon11	c.C1901T	p.S634F	SCRDKATTSGSNSISVRAFLDEDDM	SCRDKATTSGSNFISVRAFLDEDDM	9.0	5.0	-	-	3466_12:133306847-133306847 G>A_SCRDKATTSGSNFISVRAFLDEDDM
7:105207687-105207687 T>A	1.0	3466	MELANOMA	-	-	-	-	RINT1	NM_021930,p.Y770N|uc010ljj.1,p.Y345N|ENST00000257700,p.Y770N|uc003vda.1,p.Y770N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ljj.1	nonsynonymous SNV	exon10	c.T1033A	p.Y345N	LPATAALNEVGIYKLAQQDVEILLN	LPATAALNEVGINKLAQQDVEILLN	9.0	1.0	unscreened	-	3466_7:105207687-105207687 T>A_LPATAALNEVGINKLAQQDVEILLN
14:45370065-45370065 C>T	1.0	3466	MELANOMA	-	-	-	-	C14orf28	ENST00000557112,p.L143F|ENST00000325192,p.L143F|uc001wvo.3,p.L143F|uc001wvp.1,p.L143F|NM_001017923,p.L143F	retained_intron, protein_coding, processed_transcript	uc001wvp.1	nonsynonymous SNV	exon1	c.C427T	p.L143F	LFGNEHDNFTKNLENLMSTIQESYC	LFGNEHDNFTKNFENLMSTIQESYC	5.0	6.0	unscreened	-	3466_14:45370065-45370065 C>T_LFGNEHDNFTKNFENLMSTIQESYC
12:72316781-72316781 T>G	1.0	3466	MELANOMA	-	-	-	-	TBC1D15	uc001sww.3,p.C379G|NM_001146213,p.C608G|ENST00000485960,p.C608G|NM_001146214,p.C616G|uc001swv.3,p.C608G|ENST00000550746,p.C625G|uc001swu.3,p.C625G|ENST00000319106,p.C616G|uc010stt.2,p.C616G|ENST00000393309,p.C379G|NM_022771,p.C625G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010stt.2	nonsynonymous SNV	exon18	c.T1846G	p.C616G	QMVKCKELPQAVCEILGLQGSEVTT	QMVKCKELPQAVGEILGLQGSEVTT	9.0	9.0	-	-	3466_12:72316781-72316781 T>G_QMVKCKELPQAVGEILGLQGSEVTT
7:121668612-121668619 CTTCCAGA>-	0.0	3466	MELANOMA	-	-	-	-	PTPRZ1	uc003vjz.3,p.C805fs|NM_001206839,p.C805fs|NM_001206838,p.C805fs|ENST00000449182,p.C805fs|uc003vjy.3,p.C1665fs|NM_002851,p.C1665fs|uc011knt.2,p.C805fs|ENST00000393386,p.C1665fs	retained_intron, protein_coding, processed_transcript	uc011knt.2	frameshift deletion	exon14	c.2415_2422del	p.C805fs	VVLVGILIYWRKCFQTAHFYLEDST	VVLVGILIYWRKCCTLLLRGQYIP	10.0	2.0	unscreened	-	3466_7:121668612-121668619 CTTCCAGA>-_VVLVGILIYWRKCCTLLLRGQYIP
10:75158116-75158116 G>A	1.0	3466	MELANOMA	-	-	-	-	ANXA7	uc001jua.2,p.P28S|uc001jtz.2,p.P28S|ENST00000394847,p.P28S|ENST00000372919,p.P28S|NM_004034,p.P28S|uc009xrf.1,p.P28S|NM_001156,p.P28S|ENST00000372921,p.P28S	protein_coding, processed_transcript	uc009xrf.1	nonsynonymous SNV	exon3	c.C82T	p.P28S	GYPPAGQESSFPPSGQYPYPSGFPP	GYPPAGQESSFPSSGQYPYPSGFPP	10.0	6.0	unscreened	-	3466_10:75158116-75158116 G>A_GYPPAGQESSFPSSGQYPYPSGFPP
19:42880394-42880394 C>T	1.0	3466	MELANOMA	-	-	-	-	MEGF8	NM_001410,p.L2602F|ENST00000251268,p.L2669F|uc002otm.5,p.L2669F|ENST00000378073,p.L263F|ENST00000334370,p.L2602F|uc002otl.4,p.L2602F|NM_001271938,p.L2669F|uc002otn.4,p.L263F	retained_intron, protein_coding	uc002otn.4	nonsynonymous SNV	exon4	c.C787T	p.L263F	SCFFLFLSLCVLLWKAKQALDQRQE	SCFFLFLSLCVLFWKAKQALDQRQE	8.0	2.0	-	-	3466_19:42880394-42880394 C>T_SCFFLFLSLCVLFWKAKQALDQRQE
9:74360177-74360177 G>A	1.0	3466	MELANOMA	-	-	-	-	TMEM2	ENST00000377066,p.S264F|ENST00000542935,p.S264F|ENST00000377044,p.S264F|uc011lsa.1,p.S264F|NM_013390,p.S264F|NM_001135820,p.S264F|uc010mos.2,p.S264F	retained_intron, protein_coding, nonsense_mediated_decay	uc011lsa.1	nonsynonymous SNV	exon4	c.C791T	p.S264F	LPFGSYTFEKDFSRGLNVRVIDQDT	LPFGSYTFEKDFFRGLNVRVIDQDT	7.0	9.0	-	-	3466_9:74360177-74360177 G>A_LPFGSYTFEKDFFRGLNVRVIDQDT
5:39383132-39383132 G>A	1.0	3466	MELANOMA	-	-	ID=COSM1437539;OCCURENCE=1(large_intestine)	-	DAB2	NM_001244871,p.S289L|uc003jlw.3,p.S289L|ENST00000320816,p.S310L|ENST00000509337,p.S289L|ENST00000545653,p.S289L|uc003jlx.3,p.S310L|NM_001343,p.S310L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jlx.3	nonsynonymous SNV	exon10	c.C929T	p.S310L	DPFTQPDQSTPSSFDSLKSPDQKKE	DPFTQPDQSTPSLFDSLKSPDQKKE	9.0	8.0	-	-	3466_5:39383132-39383132 G>A_DPFTQPDQSTPSLFDSLKSPDQKKE
8:39775625-39775625 G>A	1.0	3466	MELANOMA	-	-	-	-	IDO1	ENST00000519154,p.D68N|ENST00000518237,p.D68N|NM_002164,p.D68N|uc003xnm.3,p.D68N|ENST00000253513,p.D68N|ENST00000522495,p.D68N	retained_intron, protein_coding, nonsense_mediated_decay	uc003xnm.3	nonsynonymous SNV	exon3	c.G202A	p.D68N	RERVEKLNMLSIDHLTDHKSQRLAR	RERVEKLNMLSINHLTDHKSQRLAR	9.0	9.0	-	-	3466_8:39775625-39775625 G>A_RERVEKLNMLSINHLTDHKSQRLAR
1:212216433-212216433 C>T	1.0	3466	MELANOMA	-	-	-	-	DTL	uc009xdc.3,p.P51S|ENST00000366991,p.P51S|NM_016448,p.P51S	protein_coding, processed_transcript	uc009xdc.3	nonsynonymous SNV	exon2	c.C151T	p.P51S	EHTSYGETGVPVPPFGCTFSSAPNM	EHTSYGETGVPVSPFGCTFSSAPNM	9.0	5.0	-	-	3466_1:212216433-212216433 C>T_EHTSYGETGVPVSPFGCTFSSAPNM
4:128941293-128941293 C>T	1.0	3466	MELANOMA	-	-	-	-	C4orf29	NM_001039717,p.S223F|uc021xrt.1,p.S223F|ENST00000398965,p.S223F|ENST00000444616,p.S223F	protein_coding, nonsense_mediated_decay	uc021xrt.1	nonsynonymous SNV	exon9	c.C668T	p.S223F	NWPKPMPLIPCLSWSTASGVFTTTD	NWPKPMPLIPCLFWSTASGVFTTTD	5.0	2.0	unscreened	-	3466_4:128941293-128941293 C>T_NWPKPMPLIPCLFWSTASGVFTTTD
4:120181689-120181689 C>T	1.0	3466	MELANOMA	-	-	ID=COSM3008015;OCCURENCE=1(large_intestine)	-	USP53	uc003icr.4,p.R235C|ENST00000274030,p.R235C|NM_019050,p.R235C|ENST00000509769,p.R235C|ENST00000450251,p.R235C|uc003ics.4,p.R235C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ics.4	nonsynonymous SNV	exon10	c.C703T	p.R235C	KCPSNCGQKIKIRRVLMNCPEIVTI	KCPSNCGQKIKICRVLMNCPEIVTI	10.0	5.0	unscreened	-	3466_4:120181689-120181689 C>T_KCPSNCGQKIKICRVLMNCPEIVTI
4:76452300-76452300 C>T	1.0	3466	MELANOMA	-	-	-	-	THAP6	uc003hin.3,p.S140L|ENST00000311638,p.S182L|NM_144721,p.S182L|ENST00000380837,p.S140L|uc003him.3,p.S182L|uc010iiv.3,p.S182L|ENST00000514480,p.S182L	retained_intron, protein_coding	uc010iiv.3	nonsynonymous SNV	exon5	c.C545T	p.S182L	RNVLDREKRFQKSLRKTIRELKDEC	RNVLDREKRFQKLLRKTIRELKDEC	7.0	5.0	unscreened	-	3466_4:76452300-76452300 C>T_RNVLDREKRFQKLLRKTIRELKDEC
2:165542487-165542487 G>A	1.0	3466	MELANOMA	-	-	-	-	COBLL1	uc010zcx.2,p.S1165F|ENST00000409184,p.S1157F|ENST00000194871,p.S1224F|ENST00000375458,p.S1119F|uc002ucn.3,p.S585F|NM_001278461,p.S1119F|NM_014900,p.S1157F|NM_001278458,p.S1224F|ENST00000392717,p.S1195F|NM_001278460,p.S1165F|uc002uco.3,p.S888F|uc010zcw.2,p.S1224F|ENST00000342193,p.S1157F|uc002ucq.3,p.S1119F|uc002ucp.3,p.S1157F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zcx.2	nonsynonymous SNV	exon14	c.C3494T	p.S1165F	TISVNGRSRLSHSMSPDAQDGH	TISVNGRSRLSHFMSPDAQDGH	9.0	7.0	unscreened	-	3466_2:165542487-165542487 G>A_TISVNGRSRLSHFMSPDAQDGH
19:49671636-49671636 C>T, 19:49671637-49671637 C>T	1.0	3466	MELANOMA	-	-	-	-	TRPM4	NM_017636,p.P190S|NM_001195227,p.P190S|uc002pmw.3,p.P190S|uc010emu.3,p.P190S|uc002pmx.3,p.P16S|ENST00000427978,p.P190S|ENST00000252826,p.P190S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010emu.3	nonsynonymous SNV	exon5	c.C568T	p.P190S	TGGTKVVAMGVAPWGVVRNRDTLIN	TGGTKVVAMGVAFWGVVRNRDTLIN	6.0	7.0	unscreened	Dinucleotide variant, 19:49671637-49671637 C>T, residue 13 P>F PR	3466_19:49671636-49671636 C>T, 19:49671637-49671637 C>T_TGGTKVVAMGVAFWGVVRNRDTLIN
2:110883254-110883254 G>A	1.0	3466	MELANOMA	-	-	ID=COSM1217697;OCCURENCE=1(lung),1(large_intestine)	-	NPHP1	NM_000272,p.S630L|uc002tfo.4,p.S511L|uc002tfl.4,p.S630L|ENST00000316534,p.S630L|ENST00000393272,p.S629L|NM_001128178,p.S574L|uc010fjv.1,p.S573L|ENST00000355301,p.S511L|NM_207181,p.S629L|uc002tfm.4,p.S574L|uc002tfn.4,p.S629L|uc010ywx.2,p.S573L|ENST00000417665,p.S573L|NM_001128179,p.S511L|ENST00000445609,p.S574L	retained_intron, protein_coding, nonsense_mediated_decay	uc010ywx.2	nonsynonymous SNV	exon19	c.C1718T	p.S573L	LEQPDVMDALRSSWAGKESTLKRSE	LEQPDVMDALRSLWAGKESTLKRSE	5.0	7.0	unscreened	-	3466_2:110883254-110883254 G>A_LEQPDVMDALRSLWAGKESTLKRSE
5:123974890-123974890 G>A	1.0	3466	MELANOMA	-	-	-	-	ZNF608	ENST00000504926,p.L1063F|NM_020747,p.L1490F|uc003ktq.1,p.L1490F|ENST00000306315,p.L1490F|uc003ktp.1,p.L185F	protein_coding, processed_transcript, nonsense_mediated_decay	uc003ktq.1	nonsynonymous SNV	exon8	c.C4468T	p.L1490F	QYDPFQGLTSAALVASQQVAAQASA	QYDPFQGLTSAAFVASQQVAAQASA	7.0	9.0	-	-	3466_5:123974890-123974890 G>A_QYDPFQGLTSAAFVASQQVAAQASA
10:94225511-94225511 C>T	1.0	3466	MELANOMA	-	-	-	-	IDE	ENST00000371581,p.E249K|uc001kia.3,p.E804K|ENST00000265986,p.E804K|NM_001165946,p.E249K|uc001khz.3,p.E249K|NM_004969,p.E804K|uc010qnp.2,p.E249K	protein_coding, processed_transcript	uc010qnp.2	nonsynonymous SNV	exon10	c.G745A	p.E249K	EIYYQTDMQSTSENMFLELFCQIIS	EIYYQTDMQSTSKNMFLELFCQIIS	9.0	4.0	unscreened	-	3466_10:94225511-94225511 C>T_EIYYQTDMQSTSKNMFLELFCQIIS
19:44832211-44832211 G>A	1.0	3466	MELANOMA	-	-	-	-	ZNF112	uc010xwz.2,p.S705L|ENST00000536500,p.S723L|uc010ejj.3,p.S706L|NM_001083335,p.S706L|ENST00000337401,p.S706L|ENST00000354340,p.S700L|NM_013380,p.S700L|uc010xwy.2,p.S723L|uc002ozc.4,p.S700L	protein_coding, nonsense_mediated_decay	uc010xwz.2	nonsynonymous SNV	exon5	c.C2114T	p.S705L	QCDECGKSFSQRSYLQSHQSVHSGE	QCDECGKSFSQRLYLQSHQSVHSGE	6.0	5.0	unscreened	-	3466_19:44832211-44832211 G>A_QCDECGKSFSQRLYLQSHQSVHSGE
2:100181985-100181985 G>A	0.0	3466	MELANOMA	-	-	-	1	AFF3	ENST00000356421,p.P1053L|uc002tag.3,p.P1028L|ENST00000445815,p.P70L|uc002taf.3,p.P1053L|NM_002285,p.P1028L|NM_001025108,p.P1053L|ENST00000409579,p.P1053L|ENST00000317233,p.P1028L|ENST00000409236,p.P1028L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tag.3	nonsynonymous SNV	exon19	c.C3083T	p.P1028L	NAMEQGPMESKSPYTMYSETVELIR	NAMEQGPMESKSLYTMYSETVELIR	6.0	7.0	unscreened	-	3466_2:100181985-100181985 G>A_NAMEQGPMESKSLYTMYSETVELIR
1:247473692-247473692 G>A	1.0	3466	MELANOMA	-	-	-	-	ZNF496	ENST00000294753,p.P240S|uc009xgv.3,p.P276S|NM_032752,p.P240S|uc010pyv.1,p.P240S|uc001ico.3,p.P240S|ENST00000366498,p.P276S|ENST00000461277,p.P165S|uc001icq.1,p.P15S	protein_coding, processed_transcript	uc010pyv.1	nonsynonymous SNV	exon4	c.C718T	p.P240S	LCFSEEDWSLLDPAQTGFYGEFIIG	LCFSEEDWSLLDSAQTGFYGEFIIG	7.0	3.0	-	-	3466_1:247473692-247473692 G>A_LCFSEEDWSLLDSAQTGFYGEFIIG
14:71572026-71572026 C>T	1.0	3466	MELANOMA	-	-	-	-	PCNX	uc010are.1,p.S1946F|NM_014982,p.S2057F|ENST00000238570,p.S1985F|uc010arf.1,p.S845F|ENST00000439984,p.S1946F|uc001xmp.2,p.S141F|uc001xmo.2,p.S2057F|ENST00000304743,p.S2057F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010arf.1	nonsynonymous SNV	exon22	c.C2534T	p.S845F	GNIEDSDTGGGTSCTGNNATTANNP	GNIEDSDTGGGTFCTGNNATTANNP	8.0	6.0	-	-	3466_14:71572026-71572026 C>T_GNIEDSDTGGGTFCTGNNATTANNP
3:154861251-154861251 C>T	1.0	3466	MELANOMA	-	-	-	-	MME	NM_007289,p.S403L|ENST00000492661,p.S403L|NM_007288,p.S403L|NM_007287,p.S403L|ENST00000360490,p.S403L|ENST00000493237,p.S403L|NM_000902,p.S403L|ENST00000462745,p.S403L|ENST00000460393,p.S403L	retained_intron, protein_coding, processed_transcript	NM_007289	nonsynonymous SNV	exon13	c.C1208T	p.S403L	RNAFRKALYGTTSETATWRRCANYV	RNAFRKALYGTTLETATWRRCANYV	4.0	4.0	-	-	3466_3:154861251-154861251 C>T_RNAFRKALYGTTLETATWRRCANYV
10:75301459-75301459 G>A	1.0	3466	MELANOMA	-	-	-	-	USP54	uc001juo.3,p.P204S|NM_152586,p.P204S|ENST00000339859,p.P204S|uc001jup.3,p.P204S|ENST00000408019,p.P204S|uc010qkl.1,p.P204S|ENST00000319786,p.P204S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qkl.1	nonsynonymous SNV	exon8	c.C610T	p.P204S	NQAICMLERREKPSPSMFGELLQNA	NQAICMLERREKSSPSMFGELLQNA	8.0	6.0	unscreened	-	3466_10:75301459-75301459 G>A_NQAICMLERREKSSPSMFGELLQNA
7:139791678-139791678 G>A	1.0	3466	MELANOMA	-	-	-	-	KDM7A	uc003vvm.3,p.S886F|ENST00000397560,p.S886F|NM_030647,p.S886F	retained_intron, protein_coding, nonsense_mediated_decay	uc003vvm.3	nonsynonymous SNV	exon19	c.C2657T	p.S886F	GSLSPERPVGETSFSVPLHPTKRPA	GSLSPERPVGETFFSVPLHPTKRPA	8.0	8.0	unscreened	-	3466_7:139791678-139791678 G>A_GSLSPERPVGETFFSVPLHPTKRPA
2:179596608-179596608 G>A	0.0	3466	MELANOMA	-	-	-	-	TTN	uc031rqc.1,p.P5665L|ENST00000342992,p.P4421L|uc002umz.1,p.P1082L|NM_001267550,p.P5665L|uc021vsy.2,p.P4421L|ENST00000591111,p.P5348L|NM_001256850,p.P5348L|ENST00000589042,p.P5665L|NM_133378,p.P4421L|uc031rqd.1,p.P5348L	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon56	c.C16043T	p.P5348L	DVMLLAEVAGTPPFEITWFKDNTIL	DVMLLAEVAGTPLFEITWFKDNTIL	5.0	1.0	unscreened	-	3466_2:179596608-179596608 G>A_DVMLLAEVAGTPLFEITWFKDNTIL
17:40028079-40028079 G>A	1.0	3466	MELANOMA	-	-	-	-	ACLY	uc010wfy.2,p.R663W|NM_001096,p.R934W|ENST00000590151,p.R934W|ENST00000353196,p.R924W|uc002hyi.3,p.R988W|ENST00000352035,p.R934W|uc002hyh.3,p.R924W|uc010wfx.2,p.R978W|NM_198830,p.R924W|ENST00000537919,p.R663W|ENST00000393896,p.R924W|uc002hyg.3,p.R934W	retained_intron, protein_coding, processed_transcript	uc010wfy.2	nonsynonymous SNV	exon17	c.C1987T	p.R663W	SSLTSGLLTIGDRFGGALDAAAKMF	SSLTSGLLTIGDWFGGALDAAAKMF	9.0	9.0	-	-	3466_17:40028079-40028079 G>A_SSLTSGLLTIGDWFGGALDAAAKMF
17:66538892-66538892 C>T	1.0	3466	MELANOMA	-	-	-	-	FAM20A	ENST00000592554,p.E291K|NM_001243746,p.E153K|uc010wqp.2,p.E153K|uc002jho.3,p.E291K|NM_017565,p.E291K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wqp.2	nonsynonymous SNV	exon7	c.G457A	p.E153K	PPTVGRIVNVTKEILEVTKNEILQS	PPTVGRIVNVTKKILEVTKNEILQS	6.0	9.0	unscreened	-	3466_17:66538892-66538892 C>T_PPTVGRIVNVTKKILEVTKNEILQS
11:125875776-125875776 G>A	1.0	3466	MELANOMA	-	-	ID=COSM107610;OCCURENCE=1(skin)	-	CDON	uc009zbw.3,p.P577S|NM_001243597,p.P577S|ENST00000392693,p.P577S|NM_016952,p.P577S|uc001qdc.4,p.P577S|ENST00000263577,p.P577S	retained_intron, protein_coding, nonsense_mediated_decay	uc009zbw.3	nonsynonymous SNV	exon9	c.C1729T	p.P577S	SAPEKNASGISVPDAPIILSPPQTH	SAPEKNASGISVSDAPIILSPPQTH	6.0	6.0	unscreened	-	3466_11:125875776-125875776 G>A_SAPEKNASGISVSDAPIILSPPQTH
12:50192197-50192197 G>A	1.0	3466	MELANOMA	-	-	-	-	NCKAP5L	NM_001037806,p.S134F|ENST00000335999,p.S134F|uc009zlk.2,p.S134F	retained_intron, protein_coding, processed_transcript	uc009zlk.2	nonsynonymous SNV	exon7	c.C401T	p.S134F	PLQPPSEPPASPSLSSTEGPAAPLP	PLQPPSEPPASPFLSSTEGPAAPLP	6.0	9.0	unscreened	-	3466_12:50192197-50192197 G>A_PLQPPSEPPASPFLSSTEGPAAPLP
2:219131697-219131697 G>A	1.0	3466	MELANOMA	-	-	-	-	AAMP	ENST00000248450,p.S136F|ENST00000420660,p.S117F|uc002vhk.3,p.S136F|uc002vhl.3,p.S137F|NM_001087,p.S136F|ENST00000447885,p.S90F|ENST00000444053,p.S137F	retained_intron, protein_coding	uc002vhl.3	nonsynonymous SNV	exon4	c.C410T	p.S137F	GELLFECAGHKDSVTCAGFSHDSTL	GELLFECAGHKDFVTCAGFSHDSTL	6.0	7.0	-	-	3466_2:219131697-219131697 G>A_GELLFECAGHKDFVTCAGFSHDSTL
3:69027495-69027495 G>A	1.0	3466	MELANOMA	-	-	-	-	EOGT	ENST00000540764,p.P375S|uc003dnj.3,p.P155S|uc003dnl.3,p.P476S|NM_173654,p.P392S|NM_001278689,p.P476S|ENST00000540955,p.P200S|ENST00000383701,p.P476S|uc003dnk.3,p.P392S|uc011bfw.3,p.P200S|ENST00000295571,p.P392S	retained_intron, protein_coding, nonsense_mediated_decay	uc011bfw.3	nonsynonymous SNV	exon15	c.C598T	p.P200S	HYITWRRQNKVFPQDKGHHPTLGEH	HYITWRRQNKVFSQDKGHHPTLGEH	9.0	6.0	-	-	3466_3:69027495-69027495 G>A_HYITWRRQNKVFSQDKGHHPTLGEH
6:136597122-136597122 G>A	0.0	3466	MELANOMA	-	-	-	2	BCLAF1	ENST00000531224,p.P514L|ENST00000527759,p.P512L|ENST00000527536,p.P514L|uc011ede.1,p.P512L|ENST00000530429,p.P512L|uc003qgy.1,p.P512L|ENST00000353331,p.P512L|uc003qgx.1,p.P514L|NM_014739,p.P514L|ENST00000392348,p.P512L|NM_001301038,p.P512L|ENST00000527613,p.P514L|NM_001077440,p.P512L|ENST00000529826,p.P514L|ENST00000532384,p.P514L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ede.1	nonsynonymous SNV	exon5	c.C1535T	p.P512L	SEKLKDLFDYSPPLHKNLDAREKST	SEKLKDLFDYSPLLHKNLDAREKST	10.0	1.0	unscreened	-	3466_6:136597122-136597122 G>A_SEKLKDLFDYSPLLHKNLDAREKST
4:128941293-128941293 C>T	1.0	3466	MELANOMA	-	-	-	-	C4orf29	ENST00000388795,p.S141F|uc010inz.3,p.S20F|uc003ift.3,p.S54F|uc003ifu.3,p.S54F|uc003ifv.3,p.S54F	protein_coding, nonsense_mediated_decay	uc010inz.3	nonsynonymous SNV	exon2	c.C59T	p.S20F	NWPKPMPLIPCLSWSTASGVFTTGV	NWPKPMPLIPCLFWSTASGVFTTGV	5.0	2.0	unscreened	-	3466_4:128941293-128941293 C>T_NWPKPMPLIPCLFWSTASGVFTTGV
8:22451285-22451285 C>T	1.0	3466	MELANOMA	-	-	-	-	PDLIM2	NM_198042,p.T268I|uc003xca.3,p.T268I|ENST00000409141,p.T268I|ENST00000339162,p.T268I	 processed_transcript,retained_intron, protein_coding, nonsense_mediated_decay	uc003xca.3	nonsynonymous SNV	exon8	c.C803T	p.T268I	TRLCASRRAGTATPAATPVPTVG	TRLCASRRAGTAIPAATPVPTVG	6.0	1.0	-	-	3466_8:22451285-22451285 C>T_TRLCASRRAGTAIPAATPVPTVG
16:30012305-30012305 C>T	1.0	3466	MELANOMA	-	-	-	-	INO80E	ENST00000567254,p.P114S|ENST00000567065,p.P114S|ENST00000567705,p.P114S|ENST00000563197,p.P114S|ENST00000562441,p.P114S|ENST00000567987,p.P114S|uc002dvg.1,p.P114S|ENST00000304516,p.P114S|NM_173618,p.P114S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dvg.1	nonsynonymous SNV	exon5	c.C340T	p.P114S	GGAPSPSSLSLPPSTGFPLQASGVP	GGAPSPSSLSLPSSTGFPLQASGVP	5.0	4.0	-	-	3466_16:30012305-30012305 C>T_GGAPSPSSLSLPSSTGFPLQASGVP
10:24762385-24762385 C>T	1.0	3466	MELANOMA	-	-	-	-	KIAA1217	ENST00000376462,p.P279S|ENST00000438429,p.P209S|ENST00000396446,p.P77S|uc001iru.4,p.P359S|ENST00000376451,p.P77S|ENST00000376456,p.P359S|NM_001282770,p.P77S|ENST00000376454,p.P359S|ENST00000376452,p.P359S|uc001irw.3,p.P77S|NM_001098500,p.P279S|uc010qcz.2,p.P359S|NM_001282767,p.P359S|uc001irt.4,p.P359S|uc001irv.1,p.P209S|uc001irx.3,p.P77S|NM_001282769,p.P77S|ENST00000430453,p.P280S|NM_019590,p.P359S|ENST00000307544,p.P77S|uc010qcy.2,p.P359S|uc001irs.3,p.P279S|NM_001282768,p.P359S|uc001iry.3,p.P77S|ENST00000458595,p.P359S|uc001irz.3,p.P77S|ENST00000396445,p.P77S	retained_intron, protein_coding, processed_transcript	uc010qcz.2	nonsynonymous SNV	exon6	c.C1075T	p.P359S	PRDRISSLPVSRPISPSPSAILERR	PRDRISSLPVSRSISPSPSAILERR	9.0	2.0	-	-	3466_10:24762385-24762385 C>T_PRDRISSLPVSRSISPSPSAILERR
12:95926636-95926636 T>-, 12:95926637-95926637 T>A	0.0	3466	MELANOMA	-	-	-	-	USP44	uc009zte.3,p.N463fs|ENST00000393091,p.N466fs|NM_001042403,p.N466fs|uc001teh.3,p.N466fs|uc001teg.3,p.N466fs|NM_032147,p.N466fs|ENST00000258499,p.N466fs|ENST00000537435,p.N466fs|NM_001278393,p.N466fs	retained_intron, protein_coding, processed_transcript	uc009zte.3	frameshift deletion	exon2	c.1388delA	p.N463fs	QRKLIKQVLNVVNNIFHGQLLSQVT	QRKLIKQVLNVVLTFFMDNFLVRLHVLHVTTNQIP	1.0	1.0	unscreened	Additional variant within 36 nucleotides, 12:95926637-95926637 T>A, residue 13 N>L PR	3466_12:95926636-95926636 T>-, 12:95926637-95926637 T>A_QRKLIKQVLNVVLTFFMDNFLVRLHVLHVTTNQIP
11:118771477-118771477 G>A	1.0	3466	MELANOMA	-	-	-	1	BCL9L	ENST00000334801,p.P992L|uc001pug.3,p.P992L|NM_182557,p.P992L|uc009zal.3,p.P987L	protein_coding, processed_transcript	uc009zal.3	nonsynonymous SNV	exon6	c.C2960T	p.P987L	GSSLSVRSPTGSPSRLKSPSMAVPS	GSSLSVRSPTGSLSRLKSPSMAVPS	7.0	4.0	-	-	3466_11:118771477-118771477 G>A_GSSLSVRSPTGSLSRLKSPSMAVPS
1:227081795-227081795 C>T	1.0	3466	MELANOMA	-	-	-	-	PSEN2	NM_000447,p.T387I|ENST00000472139,p.T243I|uc009xep.1,p.T386I|ENST00000391872,p.T420I|ENST00000340188,p.T354I|ENST00000366782,p.T420I|NM_012486,p.T386I|ENST00000422240,p.T386I|uc009xeo.1,p.T387I|ENST00000366783,p.T387I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009xep.1	nonsynonymous SNV	exon12	c.C1157T	p.T386I	GKAAATGSGDWNTTLACFVAILIGL	GKAAATGSGDWNITLACFVAILIGL	7.0	1.0	-	-	3466_1:227081795-227081795 C>T_GKAAATGSGDWNITLACFVAILIGL
1:248263302-248263302 C>T	1.0	3466	MELANOMA	-	-	-	-	OR2L13	NM_175911,p.P209S|ENST00000366478,p.P209S|ENST00000358120,p.P209S|uc021pmc.1,p.P209S|uc001ids.3,p.P209S	protein_coding	uc021pmc.1	nonsynonymous SNV	exon1	c.C625T	p.P209S	MVFVSTSLFLLFPFIGITSSCGRVL	MVFVSTSLFLLFSFIGITSSCGRVL	4.0	8.0	unscreened	-	3466_1:248263302-248263302 C>T_MVFVSTSLFLLFSFIGITSSCGRVL
19:964344-964344 T>G	1.0	3466	MELANOMA	-	-	-	-	ARID3A	uc002lql.3,p.V288G|NM_005224,p.V288G|ENST00000587532,p.V135G|ENST00000263620,p.V288G	retained_intron, protein_coding, processed_transcript	uc002lql.3	nonsynonymous SNV	exon5	c.T863G	p.V288G	YVLVTEKGGLVEVINKKLWREITKG	YVLVTEKGGLVEGINKKLWREITKG	7.0	1.0	unscreened	-	3466_19:964344-964344 T>G_YVLVTEKGGLVEGINKKLWREITKG
14:45665612-45665612 C>T	1.0	3466	MELANOMA	-	-	-	-	FANCM	NM_020937,p.R1860C|uc001wwe.4,p.R1396C|uc010anf.3,p.R1834C|uc010ang.3,p.R1109C|ENST00000556250,p.R1376C|ENST00000557110,p.R80C|ENST00000542564,p.R1834C|ENST00000267430,p.R1860C|uc001wwd.4,p.R1860C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ang.3	nonsynonymous SNV	exon9	c.C3325T	p.R1109C	CPLNGCDYIVSNRMVVERRSQSEML	CPLNGCDYIVSNCMVVERRSQSEML	6.0	3.0	unscreened	-	3466_14:45665612-45665612 C>T_CPLNGCDYIVSNCMVVERRSQSEML
15:78452480-78452480 C>T	1.0	3466	MELANOMA	-	-	-	-	IDH3A	ENST00000557826,p.P24L|uc010umt.2,p.P74L|uc002bdd.3,p.P74L|ENST00000561279,p.P46L|ENST00000559186,p.P24L|ENST00000558554,p.P74L|ENST00000299518,p.P74L|NM_005530,p.P74L|uc010umv.2,p.P24L|ENST00000559881,p.P24L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010umv.2	nonsynonymous SNV	exon4	c.C71T	p.P24L	QWEERNVTAIQGPGGKWMIPSEAKE	QWEERNVTAIQGLGGKWMIPSEAKE	9.0	1.0	unscreened	-	3466_15:78452480-78452480 C>T_QWEERNVTAIQGLGGKWMIPSEAKE
20:61527623-61527623 G>A	1.0	3466	MELANOMA	-	-	ID=COSM1028986;OCCURENCE=1(endometrium)	-	DIDO1	NM_033081,p.R726C|NM_001193369,p.R726C|NM_080797,p.R726C|uc002yds.2,p.R726C|ENST00000395340,p.R726C|ENST00000266070,p.R726C|NM_001193370,p.R726C|ENST00000395343,p.R726C|uc002ydr.2,p.R726C|uc002ydt.2,p.R726C|uc002ydu.2,p.R726C|ENST00000395335,p.R726C	protein_coding	uc002ydu.2	nonsynonymous SNV	exon8	c.C2176T	p.R726C	FQVTDNRYKSKYRSIMFNLKDPKNQ	FQVTDNRYKSKYCSIMFNLKDPKNQ	9.0	6.0	-	-	3466_20:61527623-61527623 G>A_FQVTDNRYKSKYCSIMFNLKDPKNQ
10:117849395-117849395 T>A	1.0	3466	MELANOMA	-	-	-	-	GFRA1	ENST00000355422,p.T352S|NM_005264,p.T352S|ENST00000369234,p.T352S|uc009xyr.3,p.T347S|NM_001145453,p.T347S|uc001lci.3,p.T347S|uc001lcj.3,p.T352S|ENST00000544592,p.T231S|ENST00000439649,p.T347S|NM_145793,p.T347S|ENST00000369236,p.T347S	protein_coding, processed_transcript	uc009xyr.3	nonsynonymous SNV	exon8	c.A1039T	p.T347S	NAIQAFGNGSDVTVWQPAFPVQTTT	NAIQAFGNGSDVSVWQPAFPVQTTT	5.0	3.0	unscreened	-	3466_10:117849395-117849395 T>A_NAIQAFGNGSDVSVWQPAFPVQTTT
21:10906978-10906978 G>A	0.0	3466	MELANOMA	-	-	-	-	TPTE	uc010gkv.1,p.P390L|NM_199259,p.P510L|NM_199260,p.P490L|uc002yip.1,p.P528L|ENST00000342420,p.P490L|NM_199261,p.P528L|ENST00000298232,p.P510L|ENST00000361285,p.P528L|uc002yir.1,p.P490L|NM_001290224,p.P390L|uc002yiq.1,p.P510L	protein_coding, processed_transcript	uc010gkv.1	nonsynonymous SNV	exon19	c.C1169T	p.P390L	DNLHKQKARRIYPSDFAVEILFGEK	DNLHKQKARRIYLSDFAVEILFGEK	1.0	1.0	unscreened	-	3466_21:10906978-10906978 G>A_DNLHKQKARRIYLSDFAVEILFGEK
14:20296457-20296457 C>T	0.0	3466	MELANOMA	-	-	-	-	OR4N2	uc010tkv.2,p.P284S|ENST00000315947,p.P284S|NM_001004723,p.P284S	protein_coding	uc010tkv.2	nonsynonymous SNV	exon1	c.C850T	p.P284S	SLFHTVIFPLLNPVIYTLRNQEVKA	SLFHTVIFPLLNSVIYTLRNQEVKA	1.0	5.0	unscreened	-	3466_14:20296457-20296457 C>T_SLFHTVIFPLLNSVIYTLRNQEVKA
11:64757112-64757112 C>T	1.0	3466	MELANOMA	-	-	-	-	BATF2	NM_001300807,p.G81E|uc001oce.1,p.G20E|ENST00000435842,p.G20E|NM_138456,p.G105E|ENST00000527716,p.G81E|ENST00000301887,p.G105E|NM_001300808,p.G20E|uc001ocf.1,p.G105E|ENST00000534177,p.G104E	retained_intron, protein_coding	uc001ocf.1	nonsynonymous SNV	exon3	c.G314A	p.G105E	APGLLGCWDQAEGLLGPGPQGQHGC	APGLLGCWDQAEELLGPGPQGQHGC	6.0	5.0	unscreened	-	3466_11:64757112-64757112 C>T_APGLLGCWDQAEELLGPGPQGQHGC
8:39785624-39785624 G>C	1.0	3466	MELANOMA	-	-	-	-	IDO1	uc003xnm.3,p.G378R|ENST00000518237,p.G378R|NM_002164,p.G378R|ENST00000522495,p.G378R	retained_intron, protein_coding, nonsense_mediated_decay	uc003xnm.3	nonsynonymous SNV	exon10	c.G1132C	p.G378R	KTSEDPSKLEAKGTGGTDLMNFLKT	KTSEDPSKLEAKRTGGTDLMNFLKT	9.0	9.0	-	-	3466_8:39785624-39785624 G>C_KTSEDPSKLEAKRTGGTDLMNFLKT
19:5604638-5604662 TAATTTTTCCTTCTTCACTTCGCAC>-	0.0	3466	MELANOMA	-	-	-	-	SAFB2	NM_014649,p.E497fs|uc002mcd.3,p.E497fs|ENST00000252542,p.E497fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mcd.3	frameshift deletion	exon11	c.1491_1515del	p.E497fs	NEPAGKKLSDRKECEVKKEKLSSVD	NEPAGKKLSDRKDRVSTDIILWRSKLKKL	10.0	1.0	unscreened	-	3466_19:5604638-5604662 TAATTTTTCCTTCTTCACTTCGCAC>-_NEPAGKKLSDRKDRVSTDIILWRSKLKKL
1:27434306-27434306 G>A	1.0	3466	MELANOMA	-	-	-	-	SLC9A1	uc010ofk.3,p.S33F|uc001bnn.3,p.S372F|ENST00000263980,p.S372F|ENST00000545949,p.S33F|uc001bnm.4,p.S372F|ENST00000374086,p.S372F|NM_003047,p.S372F	retained_intron, protein_coding, processed_transcript	uc010ofk.3	nonsynonymous SNV	exon3	c.C98T	p.S33F	GVVMRPYVEANISHKSHTTIKYFLK	GVVMRPYVEANIFHKSHTTIKYFLK	7.0	1.0	unscreened	-	3466_1:27434306-27434306 G>A_GVVMRPYVEANIFHKSHTTIKYFLK
18:13095602-13095602 C>T	1.0	3466	MELANOMA	-	-	-	-	CEP192	ENST00000506447,p.P2119S|ENST00000430049,p.P1644S|uc010xac.2,p.P2119S|ENST00000325971,p.P1523S|uc010xad.2,p.P1644S|NM_032142,p.P2119S|uc002krx.3,p.P123S|ENST00000510237,p.P1719S|uc002krv.3,p.P541S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010xad.2	nonsynonymous SNV	exon25	c.C4930T	p.P1644S	PQGSPLLSRAARPPLDQLASEEPWT	PQGSPLLSRAARSPLDQLASEEPWT	8.0	1.0	unscreened	Snp within 36 nucleotides, 18:13095609-13095609 T>G, residue 15 L>P PR	3466_18:13095602-13095602 C>T_PQGSPLLSRAARSPLDQLASEEPWT
7:111484820-111484820 G>A, 7:111484821-111484821 T>A	0.0	3466	MELANOMA	-	-	-	-	DOCK4	uc003vfy.3,p.T912S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vfy.3	nonsynonymous SNV	exon25	c.A2734T	p.T912S	SSSAMRFQFQDVTRTGFLNRESSHG	SSSAMRFQFQDVFRTGFLNRESSHG	7.0	7.0	unscreened	Dinucleotide variant, 7:111484820-111484820 G>A, residue 13 T>F PR	3466_7:111484820-111484820 G>A, 7:111484821-111484821 T>A_SSSAMRFQFQDVFRTGFLNRESSHG
2:96956144-96956144 G>A	1.0	3466	MELANOMA	-	-	-	-	SNRNP200	NM_014014,p.P888S|ENST00000323853,p.P888S|uc002svu.3,p.P888S	retained_intron, protein_coding, nonsense_mediated_decay	uc002svu.3	nonsynonymous SNV	exon20	c.C2662T	p.P888S	LQYYLSLLNQQLPIESQMVSKLPDM	LQYYLSLLNQQLSIESQMVSKLPDM	10.0	7.0	-	-	3466_2:96956144-96956144 G>A_LQYYLSLLNQQLSIESQMVSKLPDM
11:118770814-118770814 G>A	1.0	3466	MELANOMA	-	-	-	1	BCL9L	NM_182557,p.S1073F|uc001pug.3,p.S1073F|uc009zal.3,p.S1068F|ENST00000334801,p.S1073F	protein_coding, processed_transcript	uc009zal.3	nonsynonymous SNV	exon7	c.C3203T	p.S1068F	PSGLMNPSLPFTSSPDPTPSQNPLS	PSGLMNPSLPFTFSPDPTPSQNPLS	7.0	4.0	-	-	3466_11:118770814-118770814 G>A_PSGLMNPSLPFTFSPDPTPSQNPLS
7:23793959-23793959 G>A	1.0	3466	MELANOMA	-	-	-	-	STK31	uc003sws.5,p.G387R|NM_001260504,p.G364R|ENST00000428484,p.G364R|NM_032944,p.G364R|uc003swt.5,p.G364R|uc031swr.1,p.G364R|NM_001260505,p.G387R|NM_031414,p.G387R|uc011jze.3,p.G387R|ENST00000433467,p.G387R|ENST00000354639,p.G364R|ENST00000355870,p.G387R|uc010kuq.4,p.G364R	retained_intron, protein_coding, processed_transcript	uc031swr.1	nonsynonymous SNV	exon10	c.G1090A	p.G364R	KEMRHVDISVRFGKDLSDAIQVLDE	KEMRHVDISVRFRKDLSDAIQVLDE	1.0	9.0	unscreened	-	3466_7:23793959-23793959 G>A_KEMRHVDISVRFRKDLSDAIQVLDE
X:16711592-16711592 C>T	1.0	3466	MELANOMA	-	-	-	-	CTPS2	NM_019857,p.D153N|uc004cxk.3,p.D153N|ENST00000380241,p.D153N|uc004cxm.3,p.D153N|NM_175859,p.D153N|ENST00000359276,p.D153N|uc004cxl.3,p.D153N|NM_001144002,p.D153N|ENST00000443824,p.D153N	protein_coding, processed_transcript	uc004cxm.3	nonsynonymous SNV	exon5	c.G457A	p.D153N	QICVIELGGTIGDIEGMPFVEAFRQ	QICVIELGGTIGNIEGMPFVEAFRQ	6.0	9.0	-	-	3466_X:16711592-16711592 C>T_QICVIELGGTIGNIEGMPFVEAFRQ
11:63176234-63176234 C>T	0.0	3466	MELANOMA	-	-	-	-	SLC22A9	uc001nww.3,p.P495L|NM_080866,p.P495L|ENST00000279178,p.P495L	protein_coding, nonsense_mediated_decay	uc001nww.3	nonsynonymous SNV	exon9	c.C1484T	p.P495L	LAPLMMILSVYSPPLPWIIYGVFPF	LAPLMMILSVYSLPLPWIIYGVFPF	1.0	5.0	unscreened	-	3466_11:63176234-63176234 C>T_LAPLMMILSVYSLPLPWIIYGVFPF
12:7640647-7640647 G>A	0.0	3466	MELANOMA	-	-	-	-	CD163	ENST00000432237,p.P486L|uc001qta.3,p.P486L|NM_203416,p.P486L|ENST00000541972,p.P474L|uc009zfw.2,p.P486L|uc001qsz.3,p.P486L|NM_004244,p.P486L|ENST00000359156,p.P486L|ENST00000396620,p.P486L	retained_intron, protein_coding, processed_transcript	uc009zfw.2	nonsynonymous SNV	exon7	c.C1457T	p.P486L	AHREPRLVGGDIPCSGRVEVKHGDT	AHREPRLVGGDILCSGRVEVKHGDT	10.0	5.0	unscreened	-	3466_12:7640647-7640647 G>A_AHREPRLVGGDILCSGRVEVKHGDT
12:6760533-6760533 G>A	1.0	3466	MELANOMA	-	-	-	-	ING4	uc001qpw.4,p.H223Y|NM_016162,p.H222Y|NM_001127584,p.H219Y|uc009zet.3,p.H199Y|uc001qpx.4,p.H220Y|NM_001127582,p.H223Y|ENST00000446105,p.H219Y|NM_001127583,p.H220Y|ENST00000444704,p.H199Y|ENST00000341550,p.H222Y|ENST00000396807,p.H223Y|ENST00000412586,p.H220Y|uc001qpv.4,p.H222Y|uc001qpy.4,p.H219Y|NM_001127585,p.H199Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zet.3	nonsynonymous SNV	exon6	c.C595T	p.H199Y	GCDNPDCSIEWFHFACVGLTTKPRG	GCDNPDCSIEWFYFACVGLTTKPRG	6.0	5.0	-	-	3466_12:6760533-6760533 G>A_GCDNPDCSIEWFYFACVGLTTKPRG
16:90000153-90000153 A>T	0.0	3466	MELANOMA	-	-	-	-	TUBB3	ENST00000554336,p.E100V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000554336	nonsynonymous SNV	exon4	c.A299T	p.E100V	DNFIFAGHWRPRERVLWGEQKPLMH	DNFIFAGHWRPRVRVLWGEQKPLMH	9.0	1.0	unscreened	-	3466_16:90000153-90000153 A>T_DNFIFAGHWRPRVRVLWGEQKPLMH
19:16860316-16860316 G>A	0.0	3466	MELANOMA	-	-	-	-	NWD1	ENST00000552788,p.G288E|ENST00000524140,p.G288E|ENST00000549814,p.G288E|ENST00000339803,p.G153E|uc002net.4,p.G153E|ENST00000523826,p.G82E|NM_001290355,p.G153E|uc002nev.4,p.G82E|ENST00000379808,p.G288E|uc002neu.4,p.G288E|NM_001007525,p.G288E	protein_coding, nonsense_mediated_decay	uc002nev.4	nonsynonymous SNV	exon5	c.G245A	p.G82E	QVLTRLRELDTAGQELAWLYQEIRH	QVLTRLRELDTAEQELAWLYQEIRH	1.0	1.0	unscreened	-	3466_19:16860316-16860316 G>A_QVLTRLRELDTAEQELAWLYQEIRH
12:7984225-7984225 C>T, 12:7984224-7984224 C>T	0.0	3466	MELANOMA	-	-	-	-	SLC2A14	ENST00000542782,p.G83E|ENST00000546234,p.G83E|ENST00000537557,p.G106E|ENST00000431042,p.G83E|NM_001286237,p.G121E|ENST00000535344,p.G83E|uc001qtl.3,p.G83E|NM_153449,p.G106E|NM_001286234,p.G83E|uc001qtn.3,p.G106E|uc010sgh.2,p.G121E|uc001qtm.3,p.G83E|ENST00000543909,p.G106E|uc001qtk.3,p.G106E|NM_001286233,p.G106E|ENST00000539924,p.G121E|ENST00000396589,p.G106E|NM_001286235,p.G83E|ENST00000535266,p.G106E|ENST00000340749,p.G83E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sgh.2	nonsynonymous SNV	exon3	c.G362A	p.G121E	FSVGGMIGSFSVGLFVNRFGRRNSM	FSVGGMIGSFSVKLFVNRFGRRNSM	8.0	5.0	unscreened	Dinucleotide variant, 12:7984225-7984225 C>T, residue 13 G>K PR	3466_12:7984225-7984225 C>T, 12:7984224-7984224 C>T_FSVGGMIGSFSVKLFVNRFGRRNSM
3:124807192-124807192 A>T	1.0	3466	MELANOMA	-	-	-	-	SLC12A8	uc003ehv.4,p.F648L|ENST00000430155,p.F449L|ENST00000393469,p.F648L|uc003ehw.4,p.F677L|NM_024628,p.F648L|NM_001195483,p.F648L|ENST00000423114,p.F677L|ENST00000469902,p.F648L|uc003eht.4,p.F449L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ehw.4	nonsynonymous SNV	exon13	c.T2031A	p.F677L	PGLHLGSASNFSFFRWMRSLLLPSC	PGLHLGSASNFSLFRWMRSLLLPSC	3.0	5.0	-	-	3466_3:124807192-124807192 A>T_PGLHLGSASNFSLFRWMRSLLLPSC
1:65852502-65852502 C>T	1.0	3466	MELANOMA	-	-	-	-	DNAJC6	ENST00000494710,p.R309C|ENST00000395325,p.R278C|ENST00000263441,p.R265C|NM_001256864,p.R335C|uc001dcd.2,p.R278C|uc001dcc.1,p.R309C|uc001dce.2,p.R335C|ENST00000371069,p.R335C|NM_014787,p.R278C|uc010opc.2,p.R265C|NM_001256865,p.R265C	protein_coding, processed_transcript	uc010opc.2	nonsynonymous SNV	exon9	c.C793T	p.R265C	STCTDFERMKEYRVQDGKIFIPLNI	STCTDFERMKEYCVQDGKIFIPLNI	7.0	7.0	-	-	3466_1:65852502-65852502 C>T_STCTDFERMKEYCVQDGKIFIPLNI
7:143806752-143806752 T>C	0.0	3466	MELANOMA	-	-	-	-	OR2A2	NM_001005480,p.L26P|uc011ktz.2,p.L26P|ENST00000408979,p.L26P	protein_coding	uc011ktz.2	nonsynonymous SNV	exon1	c.T77C	p.L26P	LGFQVGPALAILLCGLFSVFYTLTL	LGFQVGPALAILPCGLFSVFYTLTL	1.0	1.0	unscreened	-	3466_7:143806752-143806752 T>C_LGFQVGPALAILPCGLFSVFYTLTL
3:9106260-9106260 C>T	0.0	3466	MELANOMA	-	-	-	2	SRGAP3	NM_001033117,p.M164I|uc003brf.2,p.M164I|ENST00000383836,p.M164I|uc003brk.4,p.M164I|uc003brg.2,p.M164I|ENST00000360413,p.M164I|uc003brj.1,p.M24I|NM_014850,p.M164I	retained_intron, protein_coding, processed_transcript	uc003brk.4	nonsynonymous SNV	exon5	c.G492A	p.M164I	ELLKVTNELYTVMKTYHMYHAESIS	ELLKVTNELYTVIKTYHMYHAESIS	5.0	3.0	unscreened	-	3466_3:9106260-9106260 C>T_ELLKVTNELYTVIKTYHMYHAESIS
4:9892272-9892272 G>A	0.0	3466	MELANOMA	-	-	-	-	SLC2A9	ENST00000264784,p.L393F|NM_001001290,p.L364F|NM_020041,p.L393F|ENST00000506583,p.L364F|uc003gmc.3,p.L393F|uc003gmd.3,p.L364F|ENST00000309065,p.L364F	protein_coding, processed_transcript	uc003gmd.3	nonsynonymous SNV	exon10	c.C1090T	p.L364F	RPLLIGGFGLMGLFFGTLTITLTLQ	RPLLIGGFGLMGFFFGTLTITLTLQ	2.0	9.0	unscreened	-	3466_4:9892272-9892272 G>A_RPLLIGGFGLMGFFFGTLTITLTLQ
21:43539396-43539396 C>T	0.0	3466	MELANOMA	-	-	-	-	UMODL1	uc002zae.1,p.P940L|uc002zad.1,p.P812L|uc002zag.1,p.P1012L|NM_001199527,p.P940L|NM_001004416,p.P884L|uc002zaf.1,p.P884L|NM_173568,p.P1012L|ENST00000400427,p.P940L|ENST00000408910,p.P884L|NM_001199528,p.P812L|ENST00000408989,p.P1012L|ENST00000400424,p.P812L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002zag.1	nonsynonymous SNV	exon14	c.C3035T	p.P1012L	VSAAFLTAFQTVPLLEVIRGDTFIQ	VSAAFLTAFQTVLLLEVIRGDTFIQ	1.0	7.0	unscreened	-	3466_21:43539396-43539396 C>T_VSAAFLTAFQTVLLLEVIRGDTFIQ
3:121190890-121190890 G>A	1.0	3466	MELANOMA	-	-	-	1	POLQ	uc003eed.3,p.P1394L|NM_199420,p.P2222L|ENST00000264233,p.P2222L|uc003eee.4,p.P2222L	protein_coding, processed_transcript	uc003eee.4	nonsynonymous SNV	exon22	c.C6665T	p.P2222L	VVFPLQREKCLNPFLGMERIYPVSQ	VVFPLQREKCLNLFLGMERIYPVSQ	3.0	3.0	unscreened	-	3466_3:121190890-121190890 G>A_VVFPLQREKCLNLFLGMERIYPVSQ
6:26056443-26056443 C>T	0.0	3466	MELANOMA	-	-	ID=COSM390278;OCCURENCE=1(lung)	-	HIST1H1C	ENST00000343677,p.D72N|uc003nfw.3,p.D72N|NM_005319,p.D72N	protein_coding	uc003nfw.3	nonsynonymous SNV	exon1	c.G214A	p.D72N	AALKKALAAAGYDVEKNNSRIKLGL	AALKKALAAAGYNVEKNNSRIKLGL	8.0	1.0	unscreened	-	3466_6:26056443-26056443 C>T_AALKKALAAAGYNVEKNNSRIKLGL
20:44691519-44691519 G>A	1.0	3466	MELANOMA	-	-	-	-	NCOA5	uc002xrd.3,p.S387F|uc002xre.3,p.S387F|NM_020967,p.S387F|ENST00000290231,p.S387F	protein_coding	uc002xre.3	nonsynonymous SNV	exon8	c.C1160T	p.S387F	MRSSTDSLPGPISRQPLGATSGASL	MRSSTDSLPGPIFRQPLGATSGASL	8.0	6.0	unscreened	-	3466_20:44691519-44691519 G>A_MRSSTDSLPGPIFRQPLGATSGASL
20:56227633-56227633 G>A	1.0	3466	MELANOMA	-	-	-	-	PMEPA1	NM_020182,p.R114W|ENST00000414037,p.R86W|uc002xys.4,p.R79W|ENST00000395816,p.R64W|uc002xyr.4,p.R64W|ENST00000341744,p.R114W|uc031ruk.1,p.R86W|NM_199171,p.R64W|ENST00000395819,p.R171W|ENST00000395814,p.R64W|uc002xyq.4,p.R114W|uc002xyt.4,p.R64W|ENST00000347215,p.R79W|NM_001255976,p.R86W|NM_199169,p.R79W|ENST00000265626,p.R64W|NM_199170,p.R64W	protein_coding, processed_transcript	uc031ruk.1	nonsynonymous SNV	exon4	c.C256T	p.R86W	NGIPEPQVYAPPRPTDRLAVPPFAQ	NGIPEPQVYAPPWPTDRLAVPPFAQ	10.0	6.0	unscreened	-	3466_20:56227633-56227633 G>A_NGIPEPQVYAPPWPTDRLAVPPFAQ
1:235972532-235972532 G>A	1.0	3466	MELANOMA	-	-	ID=COSM1719419;OCCURENCE=2(NS)	-	LYST	uc001hxj.3,p.S529F|NM_001301365,p.S529F|NM_000081,p.S529F|uc001hxl.2,p.S529F|ENST00000536965,p.S529F|ENST00000389794,p.S529F|ENST00000389793,p.S529F	retained_intron, protein_coding, processed_transcript	uc001hxl.2	nonsynonymous SNV	exon5	c.C1586T	p.S529F	SGLLVSAFKNQVSKNPFEETADGDV	SGLLVSAFKNQVFKNPFEETADGDV	9.0	3.0	-	-	3466_1:235972532-235972532 G>A_SGLLVSAFKNQVFKNPFEETADGDV
1:20982022-20982022 C>-	0.0	3466	MELANOMA	-	-	-	-	DDOST	ENST00000602624,p.T154fs|NM_005216,p.T171fs|uc001bdo.1,p.T171fs|ENST00000415136,p.T134fs|ENST00000375048,p.T171fs|ENST00000464364,p.T125fs|uc010ode.1,p.T134fs	protein_coding, processed_transcript	uc010ode.1	frameshift deletion	exon4	c.402delG	p.T134fs	HHNYDISDLGQHTLIVADTENLLKA	HHNYDISDLGQHTSSWLTLRTC	9.0	2.0	unscreened	-	3466_1:20982022-20982022 C>-_HHNYDISDLGQHTSSWLTLRTC
11:22294371-22294371 C>T	1.0	3466	MELANOMA	-	-	ID=COSM1675896;OCCURENCE=3(haematopoietic_and_lymphoid_tissue)	-	ANO5	uc001mqi.2,p.P691S|NM_001142649,p.P690S|ENST00000324559,p.P691S|uc001mqj.2,p.P690S|NM_213599,p.P691S	protein_coding, processed_transcript	uc001mqj.2	nonsynonymous SNV	exon19	c.C2068T	p.P690S	QFGFVTLFVASFPLAPLLALINNIV	QFGFVTLFVASFSLAPLLALINNIV	2.0	4.0	unscreened	-	3466_11:22294371-22294371 C>T_QFGFVTLFVASFSLAPLLALINNIV
22:24217313-24217313 C>T	1.0	3466	MELANOMA	-	-	-	-	SLC2A11	ENST00000423972,p.P103L|ENST00000255830,p.P96L	 processed_transcript,retained_intron, protein_coding, nonsense_mediated_decay	ENST00000423972	nonsynonymous SNV	exon4	c.C308T	p.P103L	LAGPLAITLGRSPSW	LAGPLAITLGRSLSW	6.0	2.0	unscreened	-	3466_22:24217313-24217313 C>T_LAGPLAITLGRSLSW
2:40401860-40401860 C>T	0.0	3466	MELANOMA	-	-	-	-	SLC8A1	NM_021097,p.G652E|ENST00000403092,p.G652E|ENST00000332839,p.G652E|uc002rrx.3,p.G652E	protein_coding, nonsense_mediated_decay	uc002rrx.3	nonsynonymous SNV	exon5	c.G1955A	p.G652E	LLLNELGGFTITGKYLFGQPVFRKV	LLLNELGGFTITEKYLFGQPVFRKV	6.0	7.0	unscreened	-	3466_2:40401860-40401860 C>T_LLLNELGGFTITEKYLFGQPVFRKV
19:50498145-50498145 G>A	1.0	3466	MELANOMA	-	-	-	-	VRK3	ENST00000601341,p.L216F|uc002prk.2,p.L266F|uc002prl.3,p.L266F|uc010ens.2,p.L266F|uc002prh.1,p.L266F|uc002prg.2,p.L266F|ENST00000594092,p.L266F|NM_016440,p.L266F|ENST00000599538,p.L266F|ENST00000593919,p.L266F|ENST00000601912,p.L216F|NM_001025778,p.L216F|uc010ent.2,p.L22F|uc010ybl.1,p.L216F|ENST00000594948,p.L266F|uc002pri.1,p.L216F|ENST00000377011,p.L216F|ENST00000316763,p.L266F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ybl.1	nonsynonymous SNV	exon8	c.C646T	p.L216F	YRFLVLPSLGRSLQSALDVSPKHVL	YRFLVLPSLGRSFQSALDVSPKHVL	7.0	8.0	-	-	3466_19:50498145-50498145 G>A_YRFLVLPSLGRSFQSALDVSPKHVL
19:50498145-50498145 G>A	1.0	3466	MELANOMA	-	-	-	-	VRK3	ENST00000443401,p.L35F|uc010ybm.1,p.L35F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ybm.1	nonsynonymous SNV	exon6	c.C103T	p.L35F	NWFLVLPSLGRSLQSALDVSPKHVL	NWFLVLPSLGRSFQSALDVSPKHVL	7.0	8.0	unscreened	-	3466_19:50498145-50498145 G>A_NWFLVLPSLGRSFQSALDVSPKHVL
2:215274981-215274981 A>T	0.0	3466	MELANOMA	-	-	-	-	SPAG16	ENST00000374309,p.H519L|ENST00000331683,p.H613L|ENST00000451561,p.H237L|uc010zjk.3,p.H519L|uc002ver.4,p.H559L|uc002veq.4,p.H613L|NM_024532,p.H613L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zjk.3	nonsynonymous SNV	exon15	c.A1556T	p.H519L	GHENEAHTVVFSHDGEILFSGGSDG	GHENEAHTVVFSLDGEILFSGGSDG	5.0	2.0	-	-	3466_2:215274981-215274981 A>T_GHENEAHTVVFSLDGEILFSGGSDG
2:85777873-85777873 T>A	1.0	3466	MELANOMA	-	-	-	-	GGCX	uc010yss.2,p.E446V|uc002sps.3,p.E630V|NM_001142269,p.E573V|uc010yst.2,p.E573V|ENST00000430215,p.E573V|NM_000821,p.E630V|ENST00000233838,p.E630V	protein_coding, processed_transcript, nonsense_mediated_decay	uc010yst.2	nonsynonymous SNV	exon13	c.A1718T	p.E573V	LQELKEKVENGSETGPLPPELQPLL	LQELKEKVENGSVTGPLPPELQPLL	7.0	3.0	-	-	3466_2:85777873-85777873 T>A_LQELKEKVENGSVTGPLPPELQPLL
2:122106215-122106215 G>A	1.0	3466	MELANOMA	-	-	-	-	CLASP1	ENST00000263710,p.P1429L|uc002tna.3,p.P475L|ENST00000455322,p.P1385L|NM_001142274,p.P1362L|uc002tmy.3,p.P265L|ENST00000397587,p.P1369L|NM_001207051,p.P1368L|NM_015282,p.P1429L|ENST00000541859,p.P1146L|ENST00000545861,p.P1136L|ENST00000409078,p.P1362L|uc002tmz.3,p.P514L|ENST00000541377,p.P1368L|NM_001142273,p.P1370L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tna.3	nonsynonymous SNV	exon22	c.C1424T	p.P475L	SIHPEQCIKVLCPIIQTADYPINLA	SIHPEQCIKVLCLIIQTADYPINLA	9.0	5.0	-	-	3466_2:122106215-122106215 G>A_SIHPEQCIKVLCLIIQTADYPINLA
10:75296081-75296081 G>A	1.0	3466	MELANOMA	-	-	-	-	USP54	uc010qkl.1,p.P364S|ENST00000408019,p.P364S|ENST00000319786,p.P364S|uc001juo.3,p.P364S|uc001juq.1,p.P157S|uc001jup.3,p.P364S|ENST00000339859,p.P364S|NM_152586,p.P364S|ENST00000428547,p.P214S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qkl.1	nonsynonymous SNV	exon11	c.C1090T	p.P364S	PQGTPVSTQDLPPQAEFQSYSRTCY	PQGTPVSTQDLPSQAEFQSYSRTCY	8.0	5.0	unscreened	-	3466_10:75296081-75296081 G>A_PQGTPVSTQDLPSQAEFQSYSRTCY
21:43176924-43176924 G>A	1.0	3466	MELANOMA	-	-	ID=COSM1223829,COSM1223828;OCCURENCE=1(large_intestine)	-	RIPK4	ENST00000352483,p.R79C|ENST00000544709,p.R16C|ENST00000332512,p.R79C|NM_020639,p.R79C|ENST00000542057,p.R16C|uc002yzn.1,p.R79C	protein_coding	uc002yzn.1	nonsynonymous SNV	exon2	c.C235T	p.R79C	LEEAKKMEMAKFRYILPVYGICREP	LEEAKKMEMAKFCYILPVYGICREP	4.0	8.0	unscreened	-	3466_21:43176924-43176924 G>A_LEEAKKMEMAKFCYILPVYGICREP
3:47040920-47040920 C>T	1.0	3466	MELANOMA	-	-	-	-	NBEAL2	NM_015175,p.S1220F|ENST00000450053,p.S1220F|uc010hjm.2,p.S728F|ENST00000292309,p.S1167F|uc003cqp.3,p.S1220F	retained_intron, protein_coding, nonsense_mediated_decay	uc010hjm.2	nonsynonymous SNV	exon12	c.C2183T	p.S728F	QGLVACLPEGTVSPQLCQGLYKLFL	QGLVACLPEGTVFPQLCQGLYKLFL	7.0	5.0	unscreened	-	3466_3:47040920-47040920 C>T_QGLVACLPEGTVFPQLCQGLYKLFL
4:13583868-13583868 G>A	1.0	3466	MELANOMA	-	-	-	-	BOD1L1	uc003gmz.1,p.S2862F|NM_148894,p.S2862F|ENST00000040738,p.S2862F	retained_intron, protein_coding, nonsense_mediated_decay	uc003gmz.1	nonsynonymous SNV	exon19	c.C8585T	p.S2862F	EKPEQNDDDTIKSQEEDQPIIIKRK	EKPEQNDDDTIKFQEEDQPIIIKRK	8.0	9.0	-	-	3466_4:13583868-13583868 G>A_EKPEQNDDDTIKFQEEDQPIIIKRK
3:11301264-11301264 G>A	1.0	3466	MELANOMA	-	-	-	-	HRH1	uc003bwb.4,p.E181K|uc010hdr.3,p.E181K|uc010hdt.3,p.E181K|uc021wtb.1,p.E181K|NM_001098212,p.E181K|NM_000861,p.E181K|ENST00000431010,p.E181K|uc010hds.3,p.E181K|NM_001098213,p.E181K|NM_001098211,p.E181K|ENST00000397056,p.E181K|ENST00000438284,p.E181K	protein_coding	uc021wtb.1	nonsynonymous SNV	exon1	c.G541A	p.E181K	MQQTSVRREDKCETDFYDVTWFKVM	MQQTSVRREDKCKTDFYDVTWFKVM	6.0	4.0	-	-	3466_3:11301264-11301264 G>A_MQQTSVRREDKCKTDFYDVTWFKVM
1:247463931-247463931 G>A	1.0	3466	MELANOMA	-	-	-	-	ZNF496	ENST00000294753,p.P552S|NM_032752,p.P552S|uc001ico.3,p.P552S|uc009xgv.3,p.P588S|ENST00000461277,p.P477S|ENST00000366498,p.P588S	protein_coding, processed_transcript	uc009xgv.3	nonsynonymous SNV	exon8	c.C1762T	p.P588S	HRSHFHLKDKARPFQCRYCVKSFTQ	HRSHFHLKDKARSFQCRYCVKSFTQ	7.0	8.0	-	-	3466_1:247463931-247463931 G>A_HRSHFHLKDKARSFQCRYCVKSFTQ
22:43089020-43089020 G>A	0.0	3466	MELANOMA	-	-	-	-	A4GALT	ENST00000249005,p.A313V|ENST00000401850,p.A313V|uc010gzd.3,p.A313V|uc021wqp.1,p.A313V|NM_017436,p.A313V|ENST00000381278,p.A313V|uc021wqo.1,p.A313V|uc021wqq.1,p.A313V|uc003bdb.3,p.A313V	protein_coding, processed_transcript	uc021wqq.1	nonsynonymous SNV	exon1	c.C938T	p.A313V	PEELPRLLSATYAVHVWNKKSQGTR	PEELPRLLSATYVVHVWNKKSQGTR	4.0	3.0	unscreened	-	3466_22:43089020-43089020 G>A_PEELPRLLSATYVVHVWNKKSQGTR
1:1560723-1560723 G>A	1.0	3466	MELANOMA	-	-	-	-	MIB2	ENST00000357210,p.G318E|ENST00000355826,p.G361E|uc009vkh.3,p.G159E|NM_001170687,p.G361E|NM_001170689,p.G195E|uc001agg.3,p.G375E|ENST00000504599,p.G274E|NM_001170686,p.G375E|ENST00000378710,p.G318E|ENST00000505820,p.G375E|uc001agi.3,p.G375E|uc001agj.3,p.G159E|NM_080875,p.G375E|uc010nyq.2,p.G274E|ENST00000520777,p.G375E|ENST00000487053,p.G274E|NM_001170688,p.G310E|ENST00000378712,p.G195E|uc001agh.3,p.G361E|ENST00000360522,p.G318E|ENST00000378708,p.G260E|uc001agk.3,p.G310E|uc001agl.2,p.G274E|uc001agm.3,p.G195E|ENST00000518681,p.G310E|ENST00000506488,p.G260E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010nyq.2	nonsynonymous SNV	exon6	c.G821A	p.G274E	RRVSADSQPFQHGDKVKCLLDTDVL	RRVSADSQPFQHEDKVKCLLDTDVL	6.0	8.0	-	-	3466_1:1560723-1560723 G>A_RRVSADSQPFQHEDKVKCLLDTDVL
5:140238110-140238110 C>T	0.0	3466	MELANOMA	-	-	-	-	PCDHA10	NM_031859,p.S826L|uc011dad.2,p.S826L	protein_coding	uc011dad.2	nonsynonymous SNV	exon1	c.C2477T	p.S826L	SYRIFSNMYQNISFLSTFHLCLNIS	SYRIFSNMYQNILFLSTFHLCLNIS	4.0	9.0	unscreened	-	3466_5:140238110-140238110 C>T_SYRIFSNMYQNILFLSTFHLCLNIS
3:194343960-194343960 G>A	1.0	3466	MELANOMA	-	-	-	-	TMEM44	ENST00000419280,p.S99F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000419280	nonsynonymous SNV	exon5	c.C296T	p.S99F	AFGSWASRIPPLSRIMESRCVAQAG	AFGSWASRIPPLFRIMESRCVAQAG	5.0	4.0	unscreened	-	3466_3:194343960-194343960 G>A_AFGSWASRIPPLFRIMESRCVAQAG
2:214794827-214794827 C>T	0.0	3466	MELANOMA	-	-	-	-	SPAG16	NM_024532,p.S453F|uc010fuz.3,p.S304F|uc002veq.4,p.S453F|uc010zjk.3,p.S359F|uc002ver.4,p.S399F|ENST00000331683,p.S453F|ENST00000374309,p.S359F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zjk.3	nonsynonymous SNV	exon11	c.C1076T	p.S359F	SCTWHSCGNFVASSSLDKTSKIWDV	SCTWHSCGNFVAFSSLDKTSKIWDV	5.0	8.0	unscreened	-	3466_2:214794827-214794827 C>T_SCTWHSCGNFVAFSSLDKTSKIWDV
11:3041490-3041490 G>A	1.0	3466	MELANOMA	-	-	-	1	CARS	uc001lxh.3,p.S326F|uc010qxo.2,p.S409F|uc001lxf.3,p.S409F|ENST00000401769,p.S339F|ENST00000278224,p.S326F|NM_001751,p.S326F|NM_139273,p.S326F|uc010qxp.2,p.S339F|NM_001014437,p.S409F|ENST00000397111,p.S326F|ENST00000380525,p.S409F|uc001lxg.3,p.S326F|NM_001194997,p.S409F|uc001lxe.3,p.S316F|ENST00000397114,p.S316F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qxp.2	nonsynonymous SNV	exon11	c.C1016T	p.S339F	KRSPNDFALWKASKPGEPSWPCPWG	KRSPNDFALWKAFKPGEPSWPCPWG	9.0	1.0	-	-	3466_11:3041490-3041490 G>A_KRSPNDFALWKAFKPGEPSWPCPWG
8:89054002-89054002 C>T	1.0	3466	MELANOMA	-	-	-	-	MMP16	ENST00000286614,p.G504E|uc003yeb.4,p.G504E|NM_005941,p.G504E	retained_intron, protein_coding, processed_transcript	uc003yeb.4	nonsynonymous SNV	exon10	c.G1511A	p.G504E	VHKENGFTYFYKGKEYWKFNNQILK	VHKENGFTYFYKEKEYWKFNNQILK	8.0	7.0	-	-	3466_8:89054002-89054002 C>T_VHKENGFTYFYKEKEYWKFNNQILK
16:19566957-19566957 C>T	1.0	3466	MELANOMA	-	-	-	-	C16orf62	ENST00000542263,p.S58L|ENST00000538853,p.S58L|uc002dgn.3,p.S58L|uc002dgo.2,p.S58L|NM_001300743,p.S58L|uc002dgm.2,p.S58L|NM_020314,p.S58L|ENST00000438132,p.S58L|ENST00000539322,p.S58L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dgo.2	nonsynonymous SNV	exon1	c.C173T	p.S58L	VLCGRCGAASCPSQTWRPRGAGSGG	VLCGRCGAASCPLQTWRPRGAGSGG	8.0	7.0	-	-	3466_16:19566957-19566957 C>T_VLCGRCGAASCPLQTWRPRGAGSGG
10:73121815-73121815 C>T	1.0	3466	MELANOMA	-	-	-	-	SLC29A3	uc010qjq.2,p.S147F|ENST00000373189,p.S293F|uc001jrr.4,p.S293F|uc001jrt.4,p.S87F|NM_018344,p.S293F	protein_coding, processed_transcript	uc010qjq.2	nonsynonymous SNV	exon5	c.C440T	p.S147F	LSAPSVASRFIDSHTPPLRPILKKT	LSAPSVASRFIDFHTPPLRPILKKT	4.0	5.0	unscreened	-	3466_10:73121815-73121815 C>T_LSAPSVASRFIDFHTPPLRPILKKT
12:56090116-56090116 G>A	1.0	3466	MELANOMA	-	-	-	-	ITGA7	ENST00000394230,p.P617L|NM_001144997,p.P520L|ENST00000257879,p.P613L|ENST00000257880,p.P657L|NM_002206,p.P613L|uc001shh.3,p.P617L|ENST00000553804,p.P617L|ENST00000394229,p.P613L|uc010sps.2,p.P520L|uc009znx.3,p.P494L|ENST00000347027,p.P607L|uc001shg.3,p.P613L|ENST00000452168,p.P520L|NM_001144996,p.P617L|ENST00000555728,p.P657L	retained_intron, protein_coding, nonsense_mediated_decay	uc010sps.2	nonsynonymous SNV	exon13	c.C1559T	p.P520L	RLRRQAPGQGLPPVAPILNAHQPST	RLRRQAPGQGLPLVAPILNAHQPST	9.0	9.0	unscreened	-	3466_12:56090116-56090116 G>A_RLRRQAPGQGLPLVAPILNAHQPST
11:102815079-102815079 G>T	0.0	3466	MELANOMA	-	-	-	-	MMP13	uc001phl.3,p.F444L|ENST00000260302,p.F444L|NM_002427,p.F444L	protein_coding	uc001phl.3	nonsynonymous SNV	exon10	c.C1332A	p.F444L	DAVYEKNGYIYFFNGPIQFEYSIWS	DAVYEKNGYIYFLNGPIQFEYSIWS	8.0	4.0	unscreened	-	3466_11:102815079-102815079 G>T_DAVYEKNGYIYFLNGPIQFEYSIWS
10:124402736-124402736 C>T	0.0	3466	MELANOMA	-	-	-	-	DMBT1	ENST00000344338,p.S2345F|ENST00000368955,p.S2345F|uc021qaf.1,p.S2355F|NM_007329,p.S2355F|ENST00000359586,p.S1075F|ENST00000338354,p.S2355F|uc001lgk.1,p.S2355F|NM_017579,p.S2345F|NM_004406,p.S1727F|ENST00000330163,p.S1727F|uc021qag.1,p.S2345F|uc009xzz.1,p.S2354F|ENST00000368909,p.S2355F|uc021qah.1,p.S1727F|uc009yac.1,p.S649F|uc001lgm.1,p.S1727F|ENST00000368956,p.S1727F|uc001lgl.1,p.S2345F|uc010qtx.1,p.S1075F|uc009yab.1,p.S1058F	protein_coding	uc021qah.1	nonsynonymous SNV	exon40	c.C5180T	p.S1727F	RFRAFHFLNRFPSVYLRCKMVVCRA	RFRAFHFLNRFPFVYLRCKMVVCRA	1.0	3.0	unscreened	-	3466_10:124402736-124402736 C>T_RFRAFHFLNRFPFVYLRCKMVVCRA
5:49724007-49724007 G>A	0.0	3466	MELANOMA	-	-	-	-	EMB	ENST00000508934,p.S56F	retained_intron, protein_coding, processed_transcript	ENST00000508934	nonsynonymous SNV	exon2	c.C167T	p.S56F	PPLREEIMANNFSLESHNISLTGST	PPLREEIMANNFFLESHNISLTGST	5.0	9.0	unscreened	-	3466_5:49724007-49724007 G>A_PPLREEIMANNFFLESHNISLTGST
19:4793035-4793035 C>T	1.0	3466	MELANOMA	-	-	-	-	FEM1A	ENST00000269856,p.S390F|uc002mbf.3,p.S390F|NM_018708,p.S390F	protein_coding	uc002mbf.3	nonsynonymous SNV	exon1	c.C1169T	p.S390F	RERILGPSHPDTSYYIRYRGAVYAD	RERILGPSHPDTFYYIRYRGAVYAD	7.0	2.0	-	-	3466_19:4793035-4793035 C>T_RERILGPSHPDTFYYIRYRGAVYAD
19:38229413-38229413 G>A	1.0	3466	MELANOMA	-	-	ID=COSM230793;OCCURENCE=1(skin)	-	ZNF573	uc021utv.1,p.H572Y|NM_001172692,p.H572Y|ENST00000590414,p.H660Y|NM_152360,p.H602Y|NM_001172691,p.H658Y|NM_001172689,p.H572Y|ENST00000536220,p.H572Y|ENST00000392138,p.H573Y|ENST00000357309,p.H572Y|uc010efs.2,p.H573Y|uc002ohf.3,p.H602Y|uc002ohd.3,p.H658Y|NM_001172690,p.H660Y|uc002ohe.3,p.H660Y|uc002ohg.3,p.H572Y|ENST00000339503,p.H602Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc021utv.1	nonsynonymous SNV	exon4	c.C1714T	p.H572Y	RYGSALKAHQRIHRSIKV	RYGSALKAHQRIYRSIKV	6.0	8.0	unscreened	-	3466_19:38229413-38229413 G>A_RYGSALKAHQRIYRSIKV
5:49724007-49724007 G>A	0.0	3466	MELANOMA	-	-	-	-	EMB	uc003jom.3,p.S56F|NM_198449,p.S56F|ENST00000303221,p.S56F	retained_intron, protein_coding, processed_transcript	uc003jom.3	nonsynonymous SNV	exon2	c.C167T	p.S56F	PPLREEIMANNFSLESHNISLTEHS	PPLREEIMANNFFLESHNISLTEHS	5.0	9.0	unscreened	-	3466_5:49724007-49724007 G>A_PPLREEIMANNFFLESHNISLTEHS
21:38523135-38523147 ATAAAAGAAAAGG>-	0.0	3466	MELANOMA	-	-	-	-	TTC3	uc010gnf.3,p.I508fs|ENST00000355666,p.I743fs|ENST00000438055,p.I725fs|ENST00000450533,p.I743fs|NM_003316,p.I743fs|ENST00000540756,p.I433fs|ENST00000418766,p.I743fs|uc002yvz.3,p.I743fs|NM_001001894,p.I743fs|uc011aed.1,p.I433fs|ENST00000399017,p.I743fs|ENST00000354749,p.I743fs|uc011aee.1,p.I433fs|uc002ywc.3,p.I433fs|uc002ywb.3,p.I743fs|uc002ywa.3,p.I743fs	retained_intron, protein_coding, processed_transcript	uc011aee.1	frameshift deletion	exon17	c.1297_1309del	p.I433fs	GGEVKCEFEHKVIKEKVPPRPILKQ	GGEVKCEFEHKVFLQDLF	10.0	1.0	unscreened	-	3466_21:38523135-38523147 ATAAAAGAAAAGG>-_GGEVKCEFEHKVFLQDLF
5:6753065-6753065 C>T	1.0	3466	MELANOMA	-	-	-	-	PAPD7	uc010itl.1,p.S270F|uc011cmn.2,p.S450F|ENST00000230859,p.S450F|uc003jdx.1,p.S450F|NM_001171806,p.S270F|NM_001171805,p.S450F|NM_006999,p.S450F	retained_intron, protein_coding	uc011cmn.2	nonsynonymous SNV	exon12	c.C1349T	p.S450F	VPCRQAGVEGTASLKAVHHMSSPAI	VPCRQAGVEGTAFLKAVHHMSSPAI	9.0	7.0	-	-	3466_5:6753065-6753065 C>T_VPCRQAGVEGTAFLKAVHHMSSPAI
8:121210142-121210142 C>T	0.0	3466	MELANOMA	-	-	-	-	COL14A1	ENST00000297848,p.P229S|ENST00000498051,p.P229S|uc003yox.4,p.P229S|NM_021110,p.P229S|ENST00000309791,p.P229S|ENST00000537875,p.P229S|ENST00000434620,p.P42S	protein_coding, processed_transcript, nonsense_mediated_decay	uc003yox.4	nonsynonymous SNV	exon7	c.C685T	p.P229S	TKDEVIEAVRNLPYKGGNTLTGLAL	TKDEVIEAVRNLSYKGGNTLTGLAL	6.0	3.0	unscreened	-	3466_8:121210142-121210142 C>T_TKDEVIEAVRNLSYKGGNTLTGLAL
1:158612629-158612629 G>A	1.0	3466	MELANOMA	-	-	-	-	SPTA1	ENST00000368148,p.S1527F|uc001fst.1,p.S1527F|NM_003126,p.S1527F|ENST00000368147,p.S1527F	protein_coding, processed_transcript	uc001fst.1	nonsynonymous SNV	exon32	c.C4580T	p.S1527F	WISEMLPTACDESYKDATNIQRKYL	WISEMLPTACDEFYKDATNIQRKYL	4.0	8.0	unscreened	-	3466_1:158612629-158612629 G>A_WISEMLPTACDEFYKDATNIQRKYL
3:194343960-194343960 G>A	1.0	3466	MELANOMA	-	-	-	-	TMEM44	ENST00000452358,p.S101F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000452358	nonsynonymous SNV	exon3	c.C302T	p.S101F	AFGSWASRIPPLSRISKMRQALGFA	AFGSWASRIPPLFRISKMRQALGFA	5.0	4.0	unscreened	-	3466_3:194343960-194343960 G>A_AFGSWASRIPPLFRISKMRQALGFA
15:42058306-42058306 C>T, 15:42058307-42058307 C>T	1.0	3466	MELANOMA	-	-	-	-	MGA	ENST00000389936,p.P2637L|ENST00000219905,p.P2676L|uc010ucz.2,p.P2467L|ENST00000566586,p.P2467L|NM_001164273,p.P2676L|ENST00000570161,p.P2676L|NM_001080541,p.P2467L|ENST00000545763,p.P2467L|uc010ucy.2,p.P2676L	retained_intron, protein_coding, processed_transcript	uc010ucz.2	nonsynonymous SNV	exon23	c.C7400T	p.P2467L	VDMGGSKYPHEVPDSKPSDHLKDTV	VDMGGSKYPHEVLDSKPSDHLKDTV	7.0	7.0	unscreened	Dinucleotide variant, 15:42058306-42058306 C>T, residue 13 P>L PR	3466_15:42058306-42058306 C>T, 15:42058307-42058307 C>T_VDMGGSKYPHEVLDSKPSDHLKDTV
6:106553491-106553491 G>A	1.0	3466	MELANOMA	-	-	-	1	PRDM1	uc003prd.2,p.E486K|ENST00000369091,p.E450K|NM_182907,p.E352K|ENST00000369096,p.E486K|NM_001198,p.E486K|uc003pre.3,p.E352K|ENST00000369089,p.E352K	retained_intron, protein_coding	uc003pre.3	nonsynonymous SNV	exon3	c.G1054A	p.E352K	GARRLLQPEHPREVLVPAPHSAFSF	GARRLLQPEHPRKVLVPAPHSAFSF	6.0	9.0	unscreened	-	3466_6:106553491-106553491 G>A_GARRLLQPEHPRKVLVPAPHSAFSF
4:36212085-36212085 G>A	1.0	3466	MELANOMA	-	-	-	-	ARAP2	ENST00000303965,p.P472S|uc003gsq.2,p.P472S|uc003gsr.1,p.P472S|NM_015230,p.P472S	retained_intron, protein_coding, processed_transcript	uc003gsr.1	nonsynonymous SNV	exon6	c.C1414T	p.P472S	ADSSAVSSQAISPYACFYGASAKKV	ADSSAVSSQAISSYACFYGASAKKV	7.0	9.0	unscreened	-	3466_4:36212085-36212085 G>A_ADSSAVSSQAISSYACFYGASAKKV
12:112182555-112182555 T>A	1.0	3466	MELANOMA	-	-	-	-	ACAD10	ENST00000392636,p.M210K|uc001tsp.3,p.M608K|ENST00000313698,p.M608K|NM_025247,p.M608K|uc009zvx.3,p.M639K|ENST00000455480,p.M639K|NM_001136538,p.M639K|ENST00000549590,p.M608K|uc001tsq.3,p.M608K	retained_intron, protein_coding, processed_transcript	uc009zvx.3	nonsynonymous SNV	exon14	c.T1916A	p.M639K	FAVKEGFRVFKEMPFTNPLTRSYHT	FAVKEGFRVFKEKPFTNPLTRSYHT	7.0	4.0	-	-	3466_12:112182555-112182555 T>A_FAVKEGFRVFKEKPFTNPLTRSYHT
7:142625281-142625281 C>T	1.0	3466	MELANOMA	-	-	-	-	TRPV5	uc003wbz.3,p.G271R|NM_019841,p.G271R|ENST00000442623,p.G271R|uc003wby.1,p.G271R|ENST00000265310,p.G271R	protein_coding	uc003wbz.3	nonsynonymous SNV	exon7	c.G811A	p.G271R	LMQKRRHIQWTYGPLTSILYDLTEIDSWG	LMQKRRHIQWTYRPLTFILYDLTEIDSWG	2.0	8.0	unscreened	Additional variant within 36 nucleotides, 7:142625268-142625268 G>A, residue 17 S>F PR	3466_7:142625281-142625281 C>T_LMQKRRHIQWTYRPLTFILYDLTEIDSWG
2:40656427-40656427 C>T	0.0	3466	MELANOMA	-	-	-	-	SLC8A1	ENST00000406391,p.E332K|uc010fan.1,p.E332K|ENST00000405901,p.E332K|NM_001112800,p.E332K|uc002rsa.3,p.E332K|uc002rry.3,p.E332K|ENST00000408028,p.E332K|ENST00000542024,p.E332K|uc002rrx.3,p.E332K|ENST00000403092,p.E332K|NM_001112802,p.E332K|NM_021097,p.E332K|ENST00000405269,p.E332K|ENST00000542756,p.E332K|ENST00000406785,p.E332K|uc002rsd.4,p.E332K|uc002rsb.2,p.E332K|uc002rrz.3,p.E332K|NM_001112801,p.E332K|uc002rsc.1,p.E332K|NM_001252624,p.E332K|ENST00000402441,p.E332K|ENST00000407929,p.E329K|ENST00000332839,p.E332K	protein_coding, nonsense_mediated_decay	uc010fan.1	nonsynonymous SNV	exon3	c.G994A	p.E332K	EEARREMARILKELKQKHPDKEIEQ	EEARREMARILKKLKQKHPDKEIEQ	6.0	3.0	unscreened	-	3466_2:40656427-40656427 C>T_EEARREMARILKKLKQKHPDKEIEQ
22:30403275-30403275 C>T	1.0	3466	MELANOMA	-	-	-	-	MTMR3	ENST00000351488,p.P282S|NM_153050,p.P282S|ENST00000401950,p.P282S|uc003agw.4,p.P282S|uc003agu.4,p.P282S|NM_021090,p.P282S|ENST00000333027,p.P282S|uc003agv.4,p.P282S|NM_153051,p.P282S|ENST00000406629,p.P282S|ENST00000323630,p.P146S	retained_intron, protein_coding, processed_transcript	uc003agw.4	nonsynonymous SNV	exon10	c.C844T	p.P282S	SKLSTRNTSRDFPNGGDLSDVEFDS	SKLSTRNTSRDFSNGGDLSDVEFDS	9.0	8.0	-	-	3466_22:30403275-30403275 C>T_SKLSTRNTSRDFSNGGDLSDVEFDS
2:197740475-197740475 G>A	0.0	3466	MELANOMA	-	-	-	-	PGAP1	NM_024989,p.S474F|uc002utx.3,p.S300F|ENST00000409475,p.S474F|uc002utw.3,p.S474F|ENST00000354764,p.S474F|uc002uty.1,p.S474F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002uty.1	nonsynonymous SNV	exon14	c.C1421T	p.S474F	KRYIQLPVTHLFSFGLSSRKVVLNT	KRYIQLPVTHLFFFGLSSRKVVLNT	6.0	2.0	unscreened	-	3466_2:197740475-197740475 G>A_KRYIQLPVTHLFFFGLSSRKVVLNT
14:75520232-75520232 G>A	1.0	3466	MELANOMA	-	-	-	-	ACYP1	ENST00000238618,p.P72L|NM_001107,p.P72L|ENST00000555694,p.P72L|ENST00000555463,p.P102L|uc001xrg.3,p.P72L	protein_coding	uc001xrg.3	nonsynonymous SNV	exon3	c.C215T	p.P72L	RHMQEWLETRGSPKSHIDKANFNNE	RHMQEWLETRGSLKSHIDKANFNNE	8.0	6.0	-	-	3466_14:75520232-75520232 G>A_RHMQEWLETRGSLKSHIDKANFNNE
1:27092825-27092825 C>T	1.0	3466	MELANOMA	-	-	-	1	ARID1A	uc001bmu.1,p.S949F|uc001bmw.1,p.S566F|ENST00000457599,p.S949F|ENST00000374152,p.S566F|uc001bmt.1,p.S949F|ENST00000324856,p.S949F|uc001bmv.1,p.S949F|NM_139135,p.S949F|NM_006015,p.S949F	retained_intron, protein_coding, nonsense_mediated_decay	uc001bmw.1	nonsynonymous SNV	exon8	c.C1697T	p.S566F	MAGMINPQGPPYSMGGTMANNSAGM	MAGMINPQGPPYFMGGTMANNSAGM	10.0	2.0	-	-	3466_1:27092825-27092825 C>T_MAGMINPQGPPYFMGGTMANNSAGM
3:25781222-25781222 G>A	1.0	3466	MELANOMA	-	-	-	-	NGLY1	NM_001145295,p.H243Y|uc003cdl.3,p.H243Y|NM_018297,p.H243Y|uc011awo.2,p.H201Y|NM_001145293,p.H243Y|uc003cdm.3,p.H243Y|ENST00000417874,p.H201Y|NM_001145294,p.H201Y|ENST00000280700,p.H243Y|ENST00000308710,p.H240Y|ENST00000396649,p.H243Y|ENST00000428257,p.H243Y|uc010hfg.3,p.H243Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011awo.2	nonsynonymous SNV	exon5	c.C601T	p.H201Y	LELLHWFKEEFFHWVNNVLCSKCGG	LELLHWFKEEFFYWVNNVLCSKCGG	7.0	5.0	unscreened	-	3466_3:25781222-25781222 G>A_LELLHWFKEEFFYWVNNVLCSKCGG
11:114168841-114168841 C>T	1.0	3466	MELANOMA	-	-	-	-	NNMT	ENST00000299964,p.S108F|ENST00000535401,p.S108F|NM_006169,p.S108F|uc001pos.1,p.S108F|uc001por.1,p.S108F	retained_intron, protein_coding, processed_transcript	uc001pos.1	nonsynonymous SNV	exon2	c.C323T	p.S108F	KWLKKEPEAFDWSPVVTYVCDLEGN	KWLKKEPEAFDWFPVVTYVCDLEGN	10.0	6.0	-	-	3466_11:114168841-114168841 C>T_KWLKKEPEAFDWFPVVTYVCDLEGN
7:143771857-143771857 C>T	0.0	3466	MELANOMA	-	-	-	-	OR2A25	NM_001004488,p.A182V|ENST00000408898,p.A182V|uc011ktx.2,p.A182V	protein_coding	uc011ktx.2	nonsynonymous SNV	exon1	c.C545T	p.A182V	PQKLNHFFCEIMAVLKLACADTHIN	PQKLNHFFCEIMVVLKLACADTHIN	1.0	1.0	unscreened	-	3466_7:143771857-143771857 C>T_PQKLNHFFCEIMVVLKLACADTHIN
2:187626472-187626472 C>T	1.0	3466	MELANOMA	-	-	-	-	FAM171B	uc002upr.1,p.S435L|NM_177454,p.S468L|ENST00000304698,p.S468L|uc002ups.3,p.S468L	protein_coding	uc002ups.3	nonsynonymous SNV	exon8	c.C1403T	p.S468L	TRDDFKIYNEDVSFLSVNQNNYSRN	TRDDFKIYNEDVLFLSVNQNNYSRN	3.0	3.0	unscreened	-	3466_2:187626472-187626472 C>T_TRDDFKIYNEDVLFLSVNQNNYSRN
14:58048102-58048102 G>A, 14:58048131-58048131 C>T	1.0	3466	MELANOMA	-	-	-	-	SLC35F4	ENST00000339762,p.G239D|ENST00000557254,p.G80D|uc021rtp.1,p.G202D|uc010apa.1,p.G80D|ENST00000554729,p.G80D|NM_001206920,p.G202D|ENST00000556826,p.G203D	protein_coding, processed_transcript, nonsense_mediated_decay	uc021rtp.1	nonsynonymous SNV	exon4	c.G605A	p.G202D	PMKKFRECSRIFGEDGLTLKLFLKRTAPFSILWTL	PMKKFRECSRIFDEDGLTLKLFFKRTAPFSILWTL	1.0	3.0	unscreened	Additional variant within 36 nucleotides, 14:58048102-58048102 G>A, residue 23 L>F PR	3466_14:58048102-58048102 G>A, 14:58048131-58048131 C>T_PMKKFRECSRIFDEDGLTLKLFFKRTAPFSILWTL
12:121687640-121687640 G>A	1.0	3466	MELANOMA	-	-	-	-	CAMKK2	ENST00000347034,p.R425C|uc001tzv.3,p.R425C|NM_001270486,p.R425C|ENST00000538733,p.R425C|uc001uab.3,p.R425C|ENST00000446440,p.R425C|uc001tzz.2,p.R212C|uc001uac.3,p.R425C|uc001tzy.3,p.R425C|uc001tzt.3,p.R425C|ENST00000412367,p.R425C|NM_153499,p.R425C|uc001uaa.2,p.R425C|NM_172214,p.R425C|ENST00000392473,p.R425C|NM_006549,p.R425C|uc001tzu.3,p.R425C|ENST00000545538,p.R212C|ENST00000404169,p.R425C|ENST00000392474,p.R425C|NM_172216,p.R425C|NM_153500,p.R425C|ENST00000324774,p.R425C|uc001tzw.3,p.R425C|NM_172215,p.R425C|uc001tzx.3,p.R425C|ENST00000337174,p.R425C|ENST00000402834,p.R425C|NM_172226,p.R425C|NM_001270485,p.R425C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uac.3	nonsynonymous SNV	exon13	c.C1273T	p.R425C	PDIAEDLKDLITRMLDKNPESRIVV	PDIAEDLKDLITCMLDKNPESRIVV	6.0	9.0	-	-	3466_12:121687640-121687640 G>A_PDIAEDLKDLITCMLDKNPESRIVV
19:50827261-50827261 G>A	1.0	3466	MELANOMA	-	-	-	-	KCNC3	ENST00000477616,p.H317Y|ENST00000376959,p.H317Y|NM_004977,p.H317Y|uc002pru.1,p.H317Y	protein_coding	uc002pru.1	nonsynonymous SNV	exon2	c.C949T	p.H317Y	TTFCLETHEGFIHISNKTVTQASPI	TTFCLETHEGFIYISNKTVTQASPI	4.0	6.0	unscreened	-	3466_19:50827261-50827261 G>A_TTFCLETHEGFIYISNKTVTQASPI
2:71801349-71801349 G>A	0.0	3466	MELANOMA	-	-	-	-	DYSF	ENST00000409582,p.G1083S|uc010fef.3,p.G1083S|NM_001130978,p.G1066S|NM_001130984,p.G1053S|ENST00000409744,p.G1053S|uc010fei.3,p.G1083S|NM_001130983,p.G1067S|ENST00000409366,p.G1067S|NM_003494,p.G1066S|NM_001130977,p.G1052S|uc010feg.3,p.G1097S|uc010fem.3,p.G1067S|NM_001130980,p.G1083S|NM_001130976,p.G1052S|ENST00000410020,p.G1084S|uc010feh.3,p.G1052S|NM_001130979,p.G1097S|ENST00000394120,p.G1067S|uc010fej.3,p.G1053S|ENST00000429174,p.G1066S|uc010fek.3,p.G1084S|NM_001130982,p.G1098S|uc002sif.3,p.G1067S|uc002sie.3,p.G1066S|uc002sig.4,p.G1052S|uc010feo.3,p.G1098S|ENST00000413539,p.G1097S|ENST00000409762,p.G1083S|uc010fen.3,p.G1084S|NM_001130986,p.G1053S|NM_001130985,p.G1084S|uc010fel.3,p.G1053S|NM_001130987,p.G1084S|uc010fee.3,p.G1066S|ENST00000409651,p.G1098S|NM_001130981,p.G1083S|NM_001130455,p.G1067S|ENST00000258104,p.G1066S|ENST00000410041,p.G1084S	protein_coding, processed_transcript	uc010feo.3	nonsynonymous SNV	exon31	c.G3292A	p.G1098S	EALKRHRQAEAEGEGWEYASLFGWK	EALKRHRQAEAESEGWEYASLFGWK	4.0	4.0	unscreened	-	3466_2:71801349-71801349 G>A_EALKRHRQAEAESEGWEYASLFGWK
4:56236181-56236181 C>T	1.0	3466	MELANOMA	-	-	-	-	SRD5A3	ENST00000264228,p.L294F|uc003hau.3,p.L294F|ENST00000505210,p.L158F|NM_024592,p.L294F	protein_coding, processed_transcript	uc003hau.3	nonsynonymous SNV	exon5	c.C880T	p.L294F	TNVFFNQALSAFLSHQFYKSKFVSY	TNVFFNQALSAFFSHQFYKSKFVSY	5.0	4.0	unscreened	-	3466_4:56236181-56236181 C>T_TNVFFNQALSAFFSHQFYKSKFVSY
17:3846716-3846716 G>T	1.0	3466	MELANOMA	-	-	-	-	ATP2A3	uc002fwz.2,p.S463Y|uc002fxa.2,p.S463Y|uc002fxd.2,p.S463Y|uc002fwx.2,p.S463Y|NM_174955,p.S463Y|NM_174954,p.S463Y|NM_174953,p.S463Y|uc002fwy.2,p.S463Y|NM_174957,p.S463Y|ENST00000397043,p.S463Y|ENST00000397041,p.S463Y|ENST00000309890,p.S463Y|uc002fxb.2,p.S463Y|uc002fxc.2,p.S463Y|ENST00000397035,p.S463Y|ENST00000359983,p.S463Y|NM_005173,p.S463Y|NM_174958,p.S463Y|ENST00000352011,p.S463Y|NM_174956,p.S463Y	retained_intron, protein_coding	uc002fxd.2	nonsynonymous SNV	exon11	c.C1388A	p.S463Y	KMNVFDTDLQALSRVERAGACNTVI	KMNVFDTDLQALYRVERAGACNTVI	5.0	9.0	unscreened	-	3466_17:3846716-3846716 G>T_KMNVFDTDLQALYRVERAGACNTVI
20:61834216-61834216 G>A	1.0	3466	MELANOMA	-	-	-	-	YTHDF1	ENST00000370333,p.A309V|uc011aaq.2,p.A309V|uc002yeh.3,p.A359V|NM_017798,p.A359V|ENST00000370339,p.A359V	protein_coding	uc011aaq.2	nonsynonymous SNV	exon2	c.C926T	p.A309V	DSNSPGNVQPNSAPSVESHPVLEKL	DSNSPGNVQPNSVPSVESHPVLEKL	10.0	5.0	-	-	3466_20:61834216-61834216 G>A_DSNSPGNVQPNSVPSVESHPVLEKL
2:167085308-167085308 G>A	1.0	3466	MELANOMA	-	-	-	-	SCN9A	ENST00000303354,p.R1368C|ENST00000409672,p.R1356C|ENST00000409435,p.R1367C|NM_002977,p.R1356C|uc010fpl.3,p.R1356C|ENST00000375387,p.R1368C	retained_intron, protein_coding	uc010fpl.3	nonsynonymous SNV	exon22	c.C4066T	p.R1356C	DGSRFPASQVPNRSECFALMNVSQN	DGSRFPASQVPNCSECFALMNVSQN	6.0	2.0	unscreened	-	3466_2:167085308-167085308 G>A_DGSRFPASQVPNCSECFALMNVSQN
7:19769039-19769039 C>T	0.0	3466	MELANOMA	-	-	-	-	TMEM196	ENST00000405764,p.G57E|NM_152774,p.G57E|uc011jyg.2,p.G57E|ENST00000405844,p.G57E	protein_coding	uc011jyg.2	nonsynonymous SNV	exon2	c.G170A	p.G57E	GDSSPFLLCGICGILCAKKKSGLVM	GDSSPFLLCGICEILCAKKKSGLVM	1.0	8.0	unscreened	-	3466_7:19769039-19769039 C>T_GDSSPFLLCGICEILCAKKKSGLVM
10:122630798-122630798 C>T	1.0	3466	MELANOMA	-	-	ID=COSM915456;OCCURENCE=2(endometrium)	-	WDR11	ENST00000263461,p.R471C|NM_018117,p.R471C|uc010qte.2,p.R73C|uc021pzt.1,p.R471C|ENST00000604585,p.R212C	protein_coding, processed_transcript	uc021pzt.1	nonsynonymous SNV	exon10	c.C1411T	p.R471C	LLSGLPAPQFAIRMCPPLTTKNIKM	LLSGLPAPQFAICMCPPLTTKNIKM	9.0	7.0	-	-	3466_10:122630798-122630798 C>T_LLSGLPAPQFAICMCPPLTTKNIKM
19:55994626-55994626 C>T	1.0	3466	MELANOMA	-	-	-	-	ZNF628	NM_033113,p.S689F|ENST00000391718,p.S685F|uc002qld.3,p.S689F|ENST00000598519,p.S689F	protein_coding	uc002qld.3	nonsynonymous SNV	exon3	c.C2066T	p.S689F	DVHVLPHLQATLSLEVAGGTAQAPS	DVHVLPHLQATLFLEVAGGTAQAPS	3.0	7.0	unscreened	-	3466_19:55994626-55994626 C>T_DVHVLPHLQATLFLEVAGGTAQAPS
3:145803105-145803105 T>C	0.0	3466	MELANOMA	-	-	-	-	PLOD2	ENST00000461497,p.I21M|uc031sbv.1,p.I21M|uc003evq.1,p.I21M	retained_intron, protein_coding, nonsense_mediated_decay	uc031sbv.1	nonsynonymous SNV	exon1	c.A63G	p.I21M	IRIYILTFFSQQIFILCHAHFIFFF	IRIYILTFFSQQMFILCHAHFIFFF	10.0	6.0	unscreened	Snp within 36 nucleotides, 3:145803142-145803142 T>A, residue 1 K>I PR	3466_3:145803105-145803105 T>C_IRIYILTFFSQQMFILCHAHFIFFF
11:94113823-94113823 A>T, 11:94113824-94113824 T>A	0.0	3466	MELANOMA	-	-	-	-	GPR83	ENST00000539203,p.I213N|ENST00000243673,p.I255N|NM_016540,p.I255N|uc001pet.2,p.I255N	protein_coding	uc001pet.2	nonsynonymous SNV	exon4	c.T764A	p.I255N	TFILLYILPLLIISVAYARVAKKLW	TFILLYILPLLIYSVAYARVAKKLW	1.0	2.0	unscreened	Dinucleotide variant, 11:94113824-94113824 T>A, residue 13 I>Y PR	3466_11:94113823-94113823 A>T, 11:94113824-94113824 T>A_TFILLYILPLLIYSVAYARVAKKLW
6:84862579-84862579 G>A	1.0	3466	MELANOMA	-	-	-	-	CEP162	NM_014895,p.S1105L|ENST00000403245,p.S1105L|uc003pkj.4,p.S1029L|ENST00000257766,p.S1029L|uc003pki.4,p.S491L|uc010kbp.3,p.S1105L|NM_001286206,p.S1029L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kbp.3	nonsynonymous SNV	exon23	c.C3314T	p.S1105L	ELAAKKREIQDLSKTVERLQKDRRM	ELAAKKREIQDLLKTVERLQKDRRM	6.0	9.0	unscreened	-	3466_6:84862579-84862579 G>A_ELAAKKREIQDLLKTVERLQKDRRM
3:194343960-194343960 G>A	1.0	3466	MELANOMA	-	-	-	-	TMEM44	NM_001166306,p.S202F|ENST00000381975,p.S202F|ENST00000347147,p.S202F|NM_138399,p.S202F|uc011bsv.2,p.S202F|NM_001011655,p.S202F|ENST00000273580,p.S202F|ENST00000473092,p.S202F|uc003fue.3,p.S202F|uc003fuf.3,p.S202F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bsv.2	nonsynonymous SNV	exon5	c.C605T	p.S202F	AFGSWASRIPPLSRICRGKTFPSIH	AFGSWASRIPPLFRICRGKTFPSIH	5.0	4.0	unscreened	-	3466_3:194343960-194343960 G>A_AFGSWASRIPPLFRICRGKTFPSIH
15:99768907-99768907 G>A	1.0	3466	MELANOMA	-	-	-	-	TTC23	ENST00000394135,p.S4L|ENST00000459771,p.S4L|uc002buw.3,p.S4L|ENST00000394136,p.S4L|ENST00000558613,p.S4L|ENST00000394129,p.S4L|uc002buz.2,p.S4L|ENST00000560772,p.S4L|uc010bor.3,p.S4L|uc002buu.3,p.S4L|uc002but.3,p.S4L|NM_001288616,p.S4L|ENST00000558663,p.S4L|ENST00000394132,p.S4L|uc002bux.3,p.S4L|ENST00000561365,p.S4L|uc002bur.3,p.S4L|NM_001288615,p.S4L|uc002buy.3,p.S4L|ENST00000262074,p.S4L|uc002buv.3,p.S4L|ENST00000558078,p.S4L|ENST00000394130,p.S4L|ENST00000560279,p.S4L|ENST00000560860,p.S4L|uc002bus.3,p.S4L|ENST00000560235,p.S4L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bor.3	nonsynonymous SNV	exon3	c.C11T	p.S4L	MQESQETHISNHLDEV	MQELQETHISNHLDEV	6.0	6.0	-	-	3466_15:99768907-99768907 G>A_MQELQETHISNHLDEV
8:28704326-28704326 C>T	1.0	3466	MELANOMA	-	-	-	-	INTS9	NM_018250,p.E67K|ENST00000520184,p.E43K|ENST00000523303,p.E67K|ENST00000518510,p.E67K|NM_001172562,p.E43K|ENST00000521777,p.E43K|ENST00000521022,p.E67K|ENST00000523436,p.E67K|uc011lav.2,p.E43K|uc003xha.3,p.E67K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lav.2	nonsynonymous SNV	exon4	c.G127A	p.E43K	WSLKDGNAFLDKELKECSGHVFVDS	WSLKDGNAFLDKKLKECSGHVFVDS	5.0	9.0	-	-	3466_8:28704326-28704326 C>T_WSLKDGNAFLDKKLKECSGHVFVDS
1:85573802-85573802 C>T	0.0	3466	MELANOMA	-	-	-	-	WDR63	ENST00000370596,p.P508L|NM_001288563,p.P508L|ENST00000294664,p.P547L|uc009wcl.3,p.P508L|ENST00000326813,p.P508L|NM_145172,p.P547L|uc001dkt.3,p.P547L	protein_coding, nonsense_mediated_decay	uc009wcl.3	nonsynonymous SNV	exon14	c.C1523T	p.P508L	TTEKKKEESIEIPFDVPSTFLHLDL	TTEKKKEESIEILFDVPSTFLHLDL	1.0	8.0	unscreened	-	3466_1:85573802-85573802 C>T_TTEKKKEESIEILFDVPSTFLHLDL
5:36064419-36064419 G>A	0.0	3466	MELANOMA	-	-	-	-	UGT3A2	uc003jjz.2,p.S43F|NM_174914,p.S43F|ENST00000515131,p.S43F|ENST00000504685,p.S43F|ENST00000282507,p.S43F	protein_coding, processed_transcript, nonsense_mediated_decay	uc003jjz.2	nonsynonymous SNV	exon2	c.C128T	p.S43F	VGGSHYLLMDRVSQILQDHGHNVTM	VGGSHYLLMDRVFQILQDHGHNVTM	1.0	2.0	unscreened	-	3466_5:36064419-36064419 G>A_VGGSHYLLMDRVFQILQDHGHNVTM
8:74939045-74939045 C>T	0.0	3466	MELANOMA	-	-	-	-	LY96	uc022awb.1,p.S88L|ENST00000284818,p.S118L|NM_001195797,p.S88L|ENST00000518893,p.S88L|uc003yad.3,p.S118L|NM_015364,p.S118L	protein_coding	uc022awb.1	nonsynonymous SNV	exon3	c.C263T	p.S88L	RALKGETVNTTISFSFKGIKFSKGK	RALKGETVNTTILFSFKGIKFSKGK	5.0	5.0	unscreened	-	3466_8:74939045-74939045 C>T_RALKGETVNTTILFSFKGIKFSKGK
7:83119546-83119546 C>T	0.0	3466	MELANOMA	-	-	-	-	SEMA3E	ENST00000307792,p.G54R|NM_012431,p.G54R|uc003uhy.2,p.G54R	protein_coding, nonsense_mediated_decay	uc003uhy.2	nonsynonymous SNV	exon2	c.G160A	p.G54R	NLNRTSIFHSPFGFLDLHTMLLDEY	NLNRTSIFHSPFRFLDLHTMLLDEY	4.0	1.0	unscreened	-	3466_7:83119546-83119546 C>T_NLNRTSIFHSPFRFLDLHTMLLDEY
1:75038645-75038645 G>A	0.0	3466	MELANOMA	-	-	-	-	ERICH3	uc001dgg.3,p.H917Y|ENST00000326665,p.H917Y|NM_001002912,p.H917Y	protein_coding, processed_transcript	uc001dgg.3	nonsynonymous SNV	exon14	c.C2749T	p.H917Y	ANEAAALNLEHLHEVAALREAATSE	ANEAAALNLEHLYEVAALREAATSE	2.0	6.0	unscreened	-	3466_1:75038645-75038645 G>A_ANEAAALNLEHLYEVAALREAATSE
X:122769997-122769997 G>A	1.0	3466	MELANOMA	-	-	-	-	THOC2	ENST00000245838,p.R651C|ENST00000491737,p.R536C|uc011muh.1,p.R576C|uc004etu.3,p.R651C|ENST00000355725,p.R651C|NM_001081550,p.R651C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011muh.1	nonsynonymous SNV	exon17	c.C1726T	p.R576C	LQSLASFCGAVFRKYPIDLAGLLQY	LQSLASFCGAVFCKYPIDLAGLLQY	10.0	9.0	-	-	3466_X:122769997-122769997 G>A_LQSLASFCGAVFCKYPIDLAGLLQY
20:44641975-44641975 G>A	0.0	3466	MELANOMA	-	-	-	-	MMP9	ENST00000372330,p.G471E|NM_004994,p.G471E|uc002xqz.3,p.G471E	protein_coding	uc002xqz.3	nonsynonymous SNV	exon9	c.G1412A	p.G471E	PQPTAPPTVCPTGPPTVHPSERPTA	PQPTAPPTVCPTEPPTVHPSERPTA	10.0	2.0	unscreened	-	3466_20:44641975-44641975 G>A_PQPTAPPTVCPTEPPTVHPSERPTA
11:85375534-85375534 G>A	0.0	3466	MELANOMA	-	-	-	-	CREBZF	ENST00000525639,p.P129L|ENST00000527447,p.P129L|ENST00000490820,p.P129L|ENST00000398294,p.P47L|uc001pas.2,p.P129L|ENST00000260058,p.P55L|NM_001039618,p.P129L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001pas.2	nonsynonymous SNV	exon1	c.C386T	p.P129L	DWHLDPGLSSPGPLSSSGGGSDSGG	DWHLDPGLSSPGLLSSSGGGSDSGG	10.0	2.0	-	-	3466_11:85375534-85375534 G>A_DWHLDPGLSSPGLLSSSGGGSDSGG
20:44691519-44691519 G>A	1.0	3466	MELANOMA	-	-	-	-	NCOA5	uc002xrc.3,p.P283S	protein_coding	uc002xrc.3	nonsynonymous SNV	exon6	c.C847T	p.P283S	PGELRGRAEARFPANHSGRPRVPR	PGELRGRAEARFSANHSGRPRVPR	8.0	6.0	unscreened	-	3466_20:44691519-44691519 G>A_PGELRGRAEARFSANHSGRPRVPR
14:93709302-93709302 G>A	1.0	3466	MELANOMA	-	-	-	-	BTBD7	uc010aur.3,p.P431S|uc010two.2,p.P726S|NM_001002860,p.P906S|ENST00000554565,p.P555S|ENST00000553975,p.P521S|uc001ybo.3,p.P906S|NM_001289133,p.P555S|uc001ybp.3,p.P555S|ENST00000393170,p.P480S|ENST00000334746,p.P906S	retained_intron, protein_coding, nonsense_mediated_decay	uc010two.2	nonsynonymous SNV	exon7	c.C2176T	p.P726S	DTELSQSVSEAGPGPPQHLSCIPQR	DTELSQSVSEAGSGPPQHLSCIPQR	8.0	9.0	unscreened	-	3466_14:93709302-93709302 G>A_DTELSQSVSEAGSGPPQHLSCIPQR
X:36368172-36368172 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1644529,COSM1644530;OCCURENCE=1(NS)	-	CXorf30	ENST00000378657,p.E321K|NM_001098843,p.E321K|ENST00000378653,p.E606K|uc011mkc.3,p.E321K	protein_coding	uc011mkc.3	nonsynonymous SNV	exon14	c.G961A	p.E321K	DIKFKSIVGIDSEEIQAIHWIYPIV	DIKFKSIVGIDSKEIQAIHWIYPIV	1.0	9.0	unscreened	-	3466_X:36368172-36368172 G>A_DIKFKSIVGIDSKEIQAIHWIYPIV
22:51011365-51011365 C>T	1.0	3466	MELANOMA	-	-	-	-	CPT1B	uc003bmn.3,p.E431K|uc003bmk.4,p.E431K|ENST00000312108,p.E431K|uc003bmp.3,p.E228K|uc003bmm.3,p.E431K|uc003bml.3,p.E431K|NM_152245,p.E431K|NM_152246,p.E431K|ENST00000457250,p.E397K|ENST00000360719,p.E431K|ENST00000434492,p.E228K|NM_004377,p.E431K|NM_001145137,p.E431K|NM_001145134,p.E397K|ENST00000395650,p.E431K|uc003bmo.3,p.E431K|ENST00000405237,p.E431K|uc011asa.2,p.E397K|NM_001145135,p.E431K	retained_intron, protein_coding, nonsense_mediated_decay	uc011asa.2	nonsynonymous SNV	exon10	c.G1189A	p.E397K	VALDEESYSYDPEDEASLSLYGKAL	VALDEESYSYDPKDEASLSLYGKAL	9.0	5.0	unscreened	-	3466_22:51011365-51011365 C>T_VALDEESYSYDPKDEASLSLYGKAL
6:105219910-105219910 G>A	1.0	3466	MELANOMA	-	-	-	-	HACE1	uc003pqu.1,p.P635L|NM_020771,p.P635L|uc010kcx.1,p.P44L|uc003pqt.1,p.P288L|uc010kcy.1,p.P117L|ENST00000262903,p.P635L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kcy.1	nonsynonymous SNV	exon20	c.C350T	p.P117L	TTFQPNSNSYVNPDHLNYFRFAGQI	TTFQPNSNSYVNLDHLNYFRFAGQI	7.0	9.0	unscreened	-	3466_6:105219910-105219910 G>A_TTFQPNSNSYVNLDHLNYFRFAGQI
16:29906709-29906709 G>A	1.0	3466	MELANOMA	-	-	-	-	SEZ6L2	ENST00000308713,p.P242S|uc002duq.4,p.P242S|NM_001243332,p.P242S|NM_001114099,p.P172S|uc010ved.2,p.P198S|NM_012410,p.P172S|NM_001243333,p.P198S|uc002dup.4,p.P172S|uc002dur.4,p.P172S|ENST00000350527,p.P172S|uc010vec.2,p.P242S|ENST00000537485,p.P198S|NM_201575,p.P242S	retained_intron, protein_coding, processed_transcript	uc010ved.2	nonsynonymous SNV	exon4	c.C592T	p.P198S	LVLAGGGSPGLAPRLLANSSMLGEG	LVLAGGGSPGLASRLLANSSMLGEG	5.0	4.0	unscreened	-	3466_16:29906709-29906709 G>A_LVLAGGGSPGLASRLLANSSMLGEG
2:238277545-238277545 C>T	1.0	3466	MELANOMA	-	-	ID=COSM1406579;OCCURENCE=1(large_intestine)	-	COL6A3	NM_057167,p.E1315K|uc010znj.1,p.E914K|ENST00000353578,p.E1315K|ENST00000295550,p.E1521K|NM_004369,p.E1521K|uc002vwo.2,p.E1315K|ENST00000347401,p.E1320K|uc002vwl.2,p.E1521K|ENST00000346358,p.E1321K|ENST00000409809,p.E1315K|NM_057166,p.E914K|ENST00000472056,p.E914K	retained_intron, protein_coding, processed_transcript	uc010znj.1	nonsynonymous SNV	exon7	c.G2740A	p.E914K	RGGSPLNTGKALEFVARNLFVKSAG	RGGSPLNTGKALKFVARNLFVKSAG	10.0	1.0	unscreened	-	3466_2:238277545-238277545 C>T_RGGSPLNTGKALKFVARNLFVKSAG
3:111312408-111312408 G>A	0.0	3466	MELANOMA	-	-	-	-	ZBED2	NM_024508,p.P214L|uc003dxy.3,p.P214L|uc021xci.1,p.P214L|ENST00000317012,p.P214L	protein_coding	uc021xci.1	nonsynonymous SNV	exon1	c.C641T	p.P214L	CQREKELPAAVHPFHFV	CQREKELPAAVHLFHFV	3.0	6.0	unscreened	-	3466_3:111312408-111312408 G>A_CQREKELPAAVHLFHFV
19:7168027-7168027 G>A	0.0	3466	MELANOMA	-	-	-	-	INSR	uc002mgf.3,p.P521L|ENST00000302850,p.P521L|ENST00000341500,p.P521L|NM_001079817,p.P521L|uc002mge.1,p.P521L|uc002mgd.1,p.P521L|NM_000208,p.P521L	retained_intron, protein_coding	uc002mgf.3	nonsynonymous SNV	exon7	c.C1562T	p.P521L	FDKILLRWEPYWPPDFRDLLGFMLF	FDKILLRWEPYWLPDFRDLLGFMLF	7.0	1.0	unscreened	-	3466_19:7168027-7168027 G>A_FDKILLRWEPYWLPDFRDLLGFMLF
19:31039065-31039065 G>A	1.0	3466	MELANOMA	-	-	-	-	ZNF536	NM_014717,p.G847R|uc010edd.1,p.G847R|ENST00000585628,p.G847R|uc002nsu.1,p.G847R|ENST00000355537,p.G847R	protein_coding, processed_transcript	uc010edd.1	nonsynonymous SNV	exon4	c.G2539A	p.G847R	PDILRGAFKGLPGIDFRGGPASQQW	PDILRGAFKGLPRIDFRGGPASQQW	7.0	2.0	unscreened	-	3466_19:31039065-31039065 G>A_PDILRGAFKGLPRIDFRGGPASQQW
1:237620006-237620006 C>T	0.0	3466	MELANOMA	-	-	-	-	RYR2	ENST00000360064,p.S526F|NM_001035,p.S528F|ENST00000542537,p.S512F|ENST00000366574,p.S528F|uc001hyl.1,p.S528F	protein_coding, processed_transcript	uc001hyl.1	nonsynonymous SNV	exon16	c.C1583T	p.S528F	DVAGREAGESWKSILNSLYELLAAL	DVAGREAGESWKFILNSLYELLAAL	2.0	1.0	unscreened	-	3466_1:237620006-237620006 C>T_DVAGREAGESWKFILNSLYELLAAL
6:80222945-80222945 G>A	1.0	3466	MELANOMA	-	-	-	-	LCA5	uc011dyr.2,p.T235I	protein_coding, processed_transcript	uc011dyr.2	nonsynonymous SNV	exon3	c.C704T	p.T235I	KKLVSAELKLDDTERRIKVQFLQLL	KKLVSAELKLDDIERRIKVQFLQLL	5.0	9.0	unscreened	-	3466_6:80222945-80222945 G>A_KKLVSAELKLDDIERRIKVQFLQLL
11:36424900-36424900 G>A	1.0	3466	MELANOMA	-	-	-	-	PRR5L	ENST00000530639,p.E73K|NM_001160169,p.E73K|ENST00000527487,p.E73K|uc010rfc.2,p.E73K|ENST00000378867,p.E73K|uc001mwo.4,p.E73K|NM_001160167,p.E73K|ENST00000311599,p.E47K|NM_024841,p.E73K|uc001mwp.3,p.E73K	protein_coding, processed_transcript	uc010rfc.2	nonsynonymous SNV	exon2	c.G217A	p.E73K	INVFKGGGLQSNELYALNENIRRLL	INVFKGGGLQSNKLYALNENIRRLL	4.0	3.0	unscreened	-	3466_11:36424900-36424900 G>A_INVFKGGGLQSNKLYALNENIRRLL
19:35831838-35831838 G>A	0.0	3466	MELANOMA	-	-	-	-	CD22	NM_001771,p.G435E|ENST00000594125,p.G78E|NM_001185101,p.G258E|ENST00000419549,p.G263E|NM_001185100,p.G435E|NM_001278417,p.G263E|ENST00000594250,p.G258E|ENST00000341773,p.G258E|uc010edv.3,p.G435E|ENST00000085219,p.G435E|ENST00000270311,p.G315E|NM_001185099,p.G347E|uc010xst.2,p.G263E|uc002nzb.4,p.G258E|ENST00000536635,p.G347E|uc010edt.3,p.G435E|uc010edu.3,p.G347E|ENST00000544992,p.G435E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xst.2	nonsynonymous SNV	exon7	c.G788A	p.G263E	TTVIQNPMPIREGDTVTLSCNYNSS	TTVIQNPMPIREEDTVTLSCNYNSS	3.0	1.0	unscreened	-	3466_19:35831838-35831838 G>A_TTVIQNPMPIREEDTVTLSCNYNSS
1:32842145-32842145 G>A	1.0	3466	MELANOMA	-	-	-	-	BSDC1	uc001bvj.3,p.P188S|NM_001300958,p.P309S|NM_001143889,p.P236S|ENST00000526031,p.P197S|ENST00000444377,p.P292S|uc010ohg.2,p.P309S|ENST00000446293,p.P309S|ENST00000419121,p.P236S|uc001bvh.4,p.P292S|ENST00000413080,p.P231S|ENST00000341071,p.P309S|NM_001143890,p.P197S|uc010ohh.2,p.P236S|NM_018045,p.P292S|ENST00000455895,p.P292S|uc010ohi.2,p.P197S|ENST00000449308,p.P292S|uc001bvi.3,p.P309S|NM_001143888,p.P309S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ohi.2	nonsynonymous SNV	exon7	c.C589T	p.P197S	SESISLVTQIANPATAPEARVLPKD	SESISLVTQIANSATAPEARVLPKD	9.0	3.0	-	-	3466_1:32842145-32842145 G>A_SESISLVTQIANSATAPEARVLPKD
1:7724606-7724606 G>A	0.0	3466	MELANOMA	-	-	-	1	CAMTA1	NM_015215,p.E667K|ENST00000439411,p.E667K|uc001aoi.3,p.E667K|ENST00000303635,p.E667K	protein_coding, processed_transcript, nonsense_mediated_decay	uc001aoi.3	nonsynonymous SNV	exon9	c.G1999A	p.E667K	TSSCSGHVETRIESTSSLHLMQFQA	TSSCSGHVETRIKSTSSLHLMQFQA	9.0	8.0	unscreened	-	3466_1:7724606-7724606 G>A_TSSCSGHVETRIKSTSSLHLMQFQA
6:656349-656349 G>A	0.0	3466	MELANOMA	-	-	-	-	HUS1B	uc003mtg.3,p.S199F|NM_148959,p.S199F|ENST00000380907,p.S199F	protein_coding	uc003mtg.3	nonsynonymous SNV	exon1	c.C596T	p.S199F	GRMTLSIETEVVSIQSYFKNLGNPP	GRMTLSIETEVVFIQSYFKNLGNPP	2.0	9.0	unscreened	-	3466_6:656349-656349 G>A_GRMTLSIETEVVFIQSYFKNLGNPP
2:229890547-229890547 C>T	1.0	3466	MELANOMA	-	-	-	-	PID1	ENST00000409462,p.R103K|uc002vpt.4,p.R152K|uc002vpu.4,p.R103K|uc002vps.4,p.R183K|ENST00000392055,p.R152K|NM_001100818,p.R152K|NM_017933,p.R183K|ENST00000392054,p.R183K|ENST00000354069,p.R185K|uc002vpr.4,p.R185K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002vpu.4	nonsynonymous SNV	exon2	c.G308A	p.R103K	HNVSPNIFAWVYREINDDLSYQMDC	HNVSPNIFAWVYKEINDDLSYQMDC	1.0	8.0	unscreened	-	3466_2:229890547-229890547 C>T_HNVSPNIFAWVYKEINDDLSYQMDC
2:179585798-179585798 G>A	0.0	3466	MELANOMA	-	-	-	-	TTN	ENST00000591111,p.H7333Y|uc021vsy.2,p.H6406Y|NM_133378,p.H6406Y|uc002umz.1,p.H3067Y|NM_001267550,p.H7650Y|NM_001256850,p.H7333Y|uc031rqc.1,p.H7650Y|ENST00000589042,p.H7650Y|ENST00000342992,p.H6406Y|uc031rqd.1,p.H7333Y	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon77	c.C21997T	p.H7333Y	IKVSWFRNDSELHESWKYNMSFINS	IKVSWFRNDSELYESWKYNMSFINS	5.0	7.0	unscreened	-	3466_2:179585798-179585798 G>A_IKVSWFRNDSELYESWKYNMSFINS
19:3765238-3765238 C>T	1.0	3466	MELANOMA	-	-	-	-	MRPL54	uc002lyq.4,p.P65S|NM_172251,p.P65S|ENST00000330133,p.P65S	protein_coding	uc002lyq.4	nonsynonymous SNV	exon2	c.C193T	p.P65S	SEALKDPDVCTDPVQLTTYAMGVNI	SEALKDPDVCTDSVQLTTYAMGVNI	5.0	7.0	-	-	3466_19:3765238-3765238 C>T_SEALKDPDVCTDSVQLTTYAMGVNI
20:62196646-62196646 G>A	1.0	3466	MELANOMA	-	-	-	-	HELZ2	NM_033405,p.L608F|NM_001037335,p.L1177F|ENST00000427522,p.L608F|uc002yfl.1,p.L608F|uc002yfm.2,p.L1177F|ENST00000467148,p.L1177F	retained_intron, protein_coding, processed_transcript	uc002yfm.2	nonsynonymous SNV	exon9	c.C3529T	p.L1177F	MAFAGDEVLVQLLSGDKAPEGRLRG	MAFAGDEVLVQLFSGDKAPEGRLRG	7.0	5.0	-	-	3466_20:62196646-62196646 G>A_MAFAGDEVLVQLFSGDKAPEGRLRG
16:19548133-19548133 G>A	1.0	3466	MELANOMA	-	-	-	-	CCP110	uc002dgl.4,p.R381K|NM_014711,p.R381K|uc002dgk.4,p.R381K|ENST00000396212,p.R381K|ENST00000396208,p.R381K|ENST00000381396,p.R381K|NM_001199022,p.R381K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dgl.4	nonsynonymous SNV	exon4	c.G1142A	p.R381K	PSMSPKMHRRRSRTSSACHILINNP	PSMSPKMHRRRSKTSSACHILINNP	8.0	2.0	unscreened	-	3466_16:19548133-19548133 G>A_PSMSPKMHRRRSKTSSACHILINNP
2:179614883-179614883 G>A	0.0	3466	MELANOMA	-	-	-	-	TTN	uc002unb.3,p.H4082Y|ENST00000360870,p.H4082Y|NM_133379,p.H4082Y	retained_intron, protein_coding	uc002unb.3	nonsynonymous SNV	exon46	c.C12244T	p.H4082Y	HPSMSQEGQTNLHLLKTNPPVPPSG	HPSMSQEGQTNLYLLKTNPPVPPSG	5.0	7.0	unscreened	-	3466_2:179614883-179614883 G>A_HPSMSQEGQTNLYLLKTNPPVPPSG
3:121973157-121973157 C>T	0.0	3466	MELANOMA	-	-	-	-	CASR	uc003eev.4,p.H41Y|ENST00000498619,p.H41Y|ENST00000296154,p.H41Y|ENST00000490131,p.H41Y|uc003eew.4,p.H41Y|NM_001178065,p.H41Y|NM_000388,p.H41Y	retained_intron, protein_coding	uc003eew.4	nonsynonymous SNV	exon2	c.C121T	p.H41Y	KGDIILGGLFPIHFGVAAKDQDLKS	KGDIILGGLFPIYFGVAAKDQDLKS	1.0	7.0	unscreened	-	3466_3:121973157-121973157 C>T_KGDIILGGLFPIYFGVAAKDQDLKS
1:198671524-198671524 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1337645;OCCURENCE=1(breast),1(large_intestine)	1	PTPRC	NM_002838,p.G150R|uc001guu.1,p.G191R|uc001gur.2,p.G150R|uc010ppg.2,p.G84R|ENST00000367376,p.G148R|ENST00000442510,p.G150R|ENST00000367367,p.G84R	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc010ppg.2	nonsynonymous SNV	exon5	c.G250A	p.G84R	PTPGSNAISDVPGERSTASTFPTDP	PTPGSNAISDVPRERSTASTFPTDP	9.0	6.0	unscreened	-	3466_1:198671524-198671524 G>A_PTPGSNAISDVPRERSTASTFPTDP
3:38739171-38739171 C>T	0.0	3466	MELANOMA	-	-	ID=COSM3408646;OCCURENCE=1(central_nervous_system)	-	SCN10A	NM_006514,p.R1847Q|NM_001293306,p.R1846Q|uc003ciq.3,p.R1847Q|NM_001293307,p.R1749Q|ENST00000449082,p.R1847Q	protein_coding	uc003ciq.3	nonsynonymous SNV	exon27	c.G5540A	p.R1847Q	SKSSYEPIATTLRWKQEDISATVIQ	SKSSYEPIATTLQWKQEDISATVIQ	1.0	5.0	unscreened	-	3466_3:38739171-38739171 C>T_SKSSYEPIATTLQWKQEDISATVIQ
1:198665985-198665985 C>T	0.0	3466	MELANOMA	-	-	-	1	PTPRC	uc001guu.1,p.S123F|uc021pgy.2,p.S82F|NM_002838,p.S82F|uc001gur.2,p.S82F|ENST00000529828,p.S82F|ENST00000352140,p.S80F|ENST00000418674,p.S82F|ENST00000367376,p.S80F|ENST00000442510,p.S82F	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc021pgy.2	nonsynonymous SNV	exon4	c.C245T	p.S82F	SETTTSLSPDNTSTQVSPDSLDNAS	SETTTSLSPDNTFTQVSPDSLDNAS	9.0	7.0	unscreened	-	3466_1:198665985-198665985 C>T_SETTTSLSPDNTFTQVSPDSLDNAS
18:10797436-10797436 G>A	0.0	3466	MELANOMA	-	-	-	-	PIEZO2	ENST00000503781,p.A488V|uc002kow.1,p.A360V|ENST00000302079,p.A488V|NM_022068,p.A488V|ENST00000580640,p.A488V|uc002kos.2,p.A488V|ENST00000582913,p.A488V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kow.1	nonsynonymous SNV	exon9	c.C1079T	p.A360V	RSREEKRSIKVHAMVSVFQFIMKQS	RSREEKRSIKVHVMVSVFQFIMKQS	8.0	5.0	unscreened	-	3466_18:10797436-10797436 G>A_RSREEKRSIKVHVMVSVFQFIMKQS
12:53415621-53415621 T>-	1.0	3466	MELANOMA	-	-	-	-	EIF4B	ENST00000550390,p.V170fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000550390	frameshift deletion	exon5	c.509delT	p.V170fs	EESLGNRRIRVDVADQAQDKGTPGP	EESLGNRRIRVDVLIKHRIKGLLAHTEF	10.0	9.0	unscreened	-	3466_12:53415621-53415621 T>-_EESLGNRRIRVDVLIKHRIKGLLAHTEF
2:10933241-10933241 C>T	1.0	3466	MELANOMA	-	-	-	-	PDIA6	NM_001282706,p.G150E|uc010yjg.2,p.G142E|NM_001282705,p.G193E|ENST00000272227,p.G145E|ENST00000540494,p.G142E|ENST00000404371,p.G197E|NM_001282707,p.G142E|uc010yjh.2,p.G150E|uc002raw.3,p.G193E|uc002rav.3,p.G197E|NM_001282704,p.G197E|ENST00000404824,p.G193E|NM_005742,p.G145E|uc002rau.3,p.G145E|ENST00000381611,p.G150E	protein_coding, processed_transcript	uc010yjh.2	nonsynonymous SNV	exon6	c.G449A	p.G150E	QLVKDRLGGRSGGYSSGKQGRSDSS	QLVKDRLGGRSGEYSSGKQGRSDSS	10.0	3.0	-	-	3466_2:10933241-10933241 C>T_QLVKDRLGGRSGEYSSGKQGRSDSS
21:46323426-46323426 G>A	0.0	3466	MELANOMA	-	-	-	-	ITGB2	uc002zgf.3,p.T118I|ENST00000320216,p.T109I|uc002zgd.2,p.T118I|uc011afl.1,p.T40I|ENST00000522931,p.T118I|NM_001127491,p.T118I|ENST00000397852,p.T118I|ENST00000397850,p.T118I|ENST00000355153,p.T118I|ENST00000302347,p.T118I|NM_000211,p.T118I|uc002zgg.2,p.T118I|ENST00000397857,p.T118I|ENST00000523663,p.T118I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011afl.1	nonsynonymous SNV	exon5	c.C119T	p.T40I	YLRPGQAAAFNVTFRRAKGYPIDLY	YLRPGQAAAFNVIFRRAKGYPIDLY	9.0	1.0	unscreened	-	3466_21:46323426-46323426 G>A_YLRPGQAAAFNVIFRRAKGYPIDLY
7:138394468-138394468 C>T	1.0	3466	MELANOMA	-	-	-	-	ATP6V0A4	ENST00000393054,p.G777E|NM_130841,p.G777E|NM_130840,p.G777E|NM_020632,p.G777E|uc003vuh.3,p.G777E|uc003vuf.3,p.G777E|uc003vug.3,p.G777E|ENST00000353492,p.G777E|ENST00000310018,p.G777E	retained_intron, protein_coding, processed_transcript	uc003vuh.3	nonsynonymous SNV	exon20	c.G2330A	p.G777E	SGLQTRGWGGIVGVFIIFAVFAVLT	SGLQTRGWGGIVEVFIIFAVFAVLT	2.0	9.0	unscreened	-	3466_7:138394468-138394468 C>T_SGLQTRGWGGIVEVFIIFAVFAVLT
7:73530244-73530244 C>T	1.0	3466	MELANOMA	-	-	-	-	LIMK1	NM_002314,p.T508I|ENST00000418310,p.T538I|NM_001204426,p.T474I|uc003uab.3,p.T474I|ENST00000538333,p.T474I|uc003uaa.2,p.T508I|ENST00000336180,p.T508I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uab.3	nonsynonymous SNV	exon12	c.C1421T	p.T474I	RSLKKPDRKKRYTVVGNPYWMAPEM	RSLKKPDRKKRYIVVGNPYWMAPEM	9.0	8.0	-	-	3466_7:73530244-73530244 C>T_RSLKKPDRKKRYIVVGNPYWMAPEM
4:727822-727822 C>T	1.0	3466	MELANOMA	-	-	-	-	PCGF3	uc003gbc.2,p.H87Y|ENST00000430644,p.H87Y|ENST00000440452,p.H87Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gbc.2	nonsynonymous SNV	exon5	c.C259T	p.H87Y	PRLGERNTGETPHSSHGAARPVAAV	PRLGERNTGETPYSSHGAARPVAAV	9.0	9.0	unscreened	-	3466_4:727822-727822 C>T_PRLGERNTGETPYSSHGAARPVAAV
8:105361301-105361301 C>G	0.0	3466	MELANOMA	-	-	-	-	DCSTAMP	ENST00000517991,p.S174C|uc031tcb.1,p.S174C|NM_001257317,p.S174C|NM_030788,p.S174C|uc003ylx.2,p.S174C|ENST00000297581,p.S174C	protein_coding, processed_transcript	uc031tcb.1	nonsynonymous SNV	exon2	c.C521G	p.S174C	DDLVSWNQTLAVSLFSPSHVLEAQL	DDLVSWNQTLAVCLFSPSHVLEAQL	7.0	9.0	unscreened	-	3466_8:105361301-105361301 C>G_DDLVSWNQTLAVCLFSPSHVLEAQL
1:247835454-247835454 C>T	0.0	3466	MELANOMA	-	-	-	-	OR13G1	ENST00000359688,p.G297E|NM_001005487,p.G297E|uc001idi.1,p.G297E	protein_coding	uc001idi.1	nonsynonymous SNV	exon1	c.G890A	p.G297E	MVYSFQNREMQAGIRKVFAFLKH	MVYSFQNREMQAEIRKVFAFLKH	1.0	1.0	unscreened	-	3466_1:247835454-247835454 C>T_MVYSFQNREMQAEIRKVFAFLKH
2:46203684-46203684 C>T	1.0	3466	MELANOMA	-	-	-	-	PRKCE	ENST00000306156,p.L177F|uc002rut.3,p.L177F|NM_005400,p.L177F	protein_coding, processed_transcript	uc002rut.3	nonsynonymous SNV	exon3	c.C529T	p.L177F	HQVNGHKFMATYLRQPTYCSHCRDF	HQVNGHKFMATYFRQPTYCSHCRDF	5.0	2.0	unscreened	-	3466_2:46203684-46203684 C>T_HQVNGHKFMATYFRQPTYCSHCRDF
20:45905204-45905204 G>A	1.0	3466	MELANOMA	-	-	-	-	ZMYND8	ENST00000360911,p.S420F|NM_001281779,p.S177F|uc010zxz.1,p.S420F|NM_012408,p.S445F|NM_001281778,p.S420F|ENST00000458360,p.S420F|ENST00000446994,p.S362F|NM_183047,p.S445F|uc002xtc.1,p.S445F|NM_183048,p.S420F|NM_001281771,p.S420F|ENST00000262975,p.S425F|uc002xtd.1,p.S420F|uc010zya.1,p.S425F|uc002xsz.1,p.S362F|uc002xsx.1,p.S177F|uc002xta.1,p.S425F|NM_001281780,p.S177F|NM_001281781,p.S420F|NM_001281782,p.S420F|uc010ghr.1,p.S400F|NM_001281775,p.S445F|uc002xss.2,p.S425F|uc010zxy.1,p.S452F|uc002xst.1,p.S400F|uc002xte.1,p.S425F|NM_001281773,p.S425F|uc002xsv.1,p.S400F|uc002xtg.3,p.S419F|NM_001281783,p.S445F|NM_001281776,p.S445F|uc002xsw.1,p.S177F|uc002xtb.1,p.S445F|NM_001281774,p.S425F|NM_001281772,p.S425F|ENST00000355972,p.S425F|ENST00000540497,p.S420F|ENST00000536340,p.S452F|ENST00000352431,p.S445F|ENST00000471951,p.S445F|uc002xtf.1,p.S445F|ENST00000311275,p.S425F|uc002xsu.1,p.S425F|NM_001281777,p.S420F|NM_001281784,p.S420F|ENST00000372023,p.S420F|ENST00000396281,p.S425F|ENST00000461685,p.S445F|uc002xsy.1,p.S400F|uc010ghq.1,p.S102F|uc010ghs.2,p.S419F	protein_coding, processed_transcript	uc010zya.1	nonsynonymous SNV	exon12	c.C1274T	p.S425F	KPVLSGGTGRRISLSDMPRSPMSTN	KPVLSGGTGRRIFLSDMPRSPMSTN	10.0	3.0	-	-	3466_20:45905204-45905204 G>A_KPVLSGGTGRRIFLSDMPRSPMSTN
18:33555003-33555003 T>C	1.0	3466	MELANOMA	-	-	-	-	C18orf21	ENST00000592875,p.L82P|uc002kzc.3,p.L82P|uc021uit.1,p.L82P|NM_001201476,p.L82P|NM_031446,p.L82P	retained_intron, protein_coding, processed_transcript	uc021uit.1	nonsynonymous SNV	exon3	c.T245C	p.L82P	QKLLNREARNYTLSFKEAKMVKKFK	QKLLNREARNYTPSFKEAKMVKKFK	5.0	4.0	unscreened	-	3466_18:33555003-33555003 T>C_QKLLNREARNYTPSFKEAKMVKKFK
5:52374624-52374624 G>A	1.0	3466	MELANOMA	-	-	-	-	ITGA2	uc011cqc.2,p.E874K|NM_002203,p.E950K|ENST00000296585,p.E950K|uc003joy.3,p.E950K	protein_coding, nonsense_mediated_decay	uc011cqc.2	nonsynonymous SNV	exon23	c.G2620A	p.E874K	IHLTRSTNINFYEISSDGNVPSIVH	IHLTRSTNINFYKISSDGNVPSIVH	8.0	9.0	unscreened	-	3466_5:52374624-52374624 G>A_IHLTRSTNINFYKISSDGNVPSIVH
15:75197015-75197015 G>A	0.0	3466	MELANOMA	-	-	-	-	FAM219B	ENST00000562698,p.S140L|uc002azg.2,p.S140L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002azg.2	nonsynonymous SNV	exon4	c.C419T	p.S140L	DGELGSRYSSGYSSAEVNQDVSRQL	DGELGSRYSSGYLSAEVNQDVSRQL	6.0	1.0	-	-	3466_15:75197015-75197015 G>A_DGELGSRYSSGYLSAEVNQDVSRQL
21:32617826-32617826 A>T	1.0	3466	MELANOMA	-	-	-	-	TIAM1	uc011adk.1,p.L521Q|uc002yow.1,p.L521Q|ENST00000286827,p.L521Q|NM_003253,p.L521Q|ENST00000541036,p.L521Q|uc011adl.1,p.L521Q|uc002yox.1,p.L129Q	retained_intron, protein_coding, processed_transcript	uc011adl.1	nonsynonymous SNV	exon4	c.T1562A	p.L521Q	PKKDFVFCLSNSLGDAFLFQTTSQT	PKKDFVFCLSNSQGDAFLFQTTSQT	7.0	7.0	-	-	3466_21:32617826-32617826 A>T_PKKDFVFCLSNSQGDAFLFQTTSQT
6:80222945-80222945 G>A	1.0	3466	MELANOMA	-	-	-	-	LCA5	NM_001122769,p.T235I|NM_181714,p.T235I|ENST00000369846,p.T235I|ENST00000392959,p.T235I|uc003piy.3,p.T235I|uc003pix.3,p.T235I|ENST00000467898,p.T235I	protein_coding, processed_transcript	uc003piy.3	nonsynonymous SNV	exon4	c.C704T	p.T235I	KKLVSAELKLDDTERRIKELSKNLE	KKLVSAELKLDDIERRIKELSKNLE	5.0	9.0	unscreened	-	3466_6:80222945-80222945 G>A_KKLVSAELKLDDIERRIKELSKNLE
10:50820072-50820072 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1348098;OCCURENCE=1(large_intestine)	-	SLC18A3	NM_003055,p.S429L|uc001jhw.3,p.S429L|ENST00000374115,p.S429L	protein_coding	uc001jhw.3	nonsynonymous SNV	exon1	c.C1286T	p.S429L	YGSVYAIADISYSVAYALGPIVAGH	YGSVYAIADISYLVAYALGPIVAGH	1.0	6.0	unscreened	-	3466_10:50820072-50820072 C>T_YGSVYAIADISYLVAYALGPIVAGH
5:140188145-140188145 C>T	0.0	3466	MELANOMA	-	-	-	-	PCDHA4	ENST00000512229,p.P458L|NM_018907,p.P458L|uc003lhh.1,p.P458L|ENST00000530339,p.P458L|ENST00000356878,p.P458L|uc003lhi.2,p.P458L|NM_031500,p.P458L|uc011daa.2,p.P458L	protein_coding	uc011daa.2	nonsynonymous SNV	exon1	c.C1373T	p.P458L	ADVNDNAPAFAQPEYTVFVKENNPP	ADVNDNAPAFAQLEYTVFVKENNPP	2.0	9.0	unscreened	-	3466_5:140188145-140188145 C>T_ADVNDNAPAFAQLEYTVFVKENNPP
20:742466-742466 G>A	0.0	3466	MELANOMA	-	-	-	-	SLC52A3	uc002wee.2,p.S359F|ENST00000381944,p.S359F|uc002wed.4,p.S359F|NM_033409,p.S359F|ENST00000217254,p.S359F	protein_coding, processed_transcript	uc002wee.2	nonsynonymous SNV	exon4	c.C1076T	p.S359F	LASLVSMFLPNRSLLFLGVLSVLGT	LASLVSMFLPNRFLLFLGVLSVLGT	1.0	8.0	unscreened	-	3466_20:742466-742466 G>A_LASLVSMFLPNRFLLFLGVLSVLGT
19:49442826-49442826 C>T	0.0	3466	MELANOMA	-	-	-	-	DHDH	ENST00000221403,p.R163W|uc002ple.1,p.R163W|ENST00000522614,p.R163W|NM_014475,p.R163W	protein_coding, nonsense_mediated_decay	uc002ple.1	nonsynonymous SNV	exon4	c.C487T	p.R163W	RAEFGKNLIHVPRAVDRAQAGGALL	RAEFGKNLIHVPWAVDRAQAGGALL	1.0	3.0	unscreened	-	3466_19:49442826-49442826 C>T_RAEFGKNLIHVPWAVDRAQAGGALL
1:158912170-158912170 G>A	0.0	3466	MELANOMA	-	-	-	-	PYHIN1	uc001ftc.3,p.G319E|NM_198930,p.G319E|ENST00000392252,p.G319E|NM_198929,p.G328E|ENST00000368140,p.G328E|ENST00000368138,p.G319E|ENST00000392254,p.G328E|uc001ftb.3,p.G328E|NM_152501,p.G328E|uc001ftd.3,p.G328E|uc001fte.3,p.G319E|NM_198928,p.G319E	protein_coding, processed_transcript	uc001fte.3	nonsynonymous SNV	exon5	c.G956A	p.G319E	ILHKQTSGYIVYGLFMLHTKIVNRK	ILHKQTSGYIVYELFMLHTKIVNRK	6.0	5.0	unscreened	-	3466_1:158912170-158912170 G>A_ILHKQTSGYIVYELFMLHTKIVNRK
3:123348433-123348433 C>T	1.0	3466	MELANOMA	-	-	ID=COSM1418425;OCCURENCE=1(skin),1(large_intestine)	-	MYLK	NM_053026,p.E1599K|uc011bjv.2,p.E468K|uc003ego.3,p.E1668K|uc003egs.3,p.E1492K|uc010hrr.3,p.E103K|NM_053025,p.E1668K|ENST00000475616,p.E1668K|ENST00000360304,p.E1668K|ENST00000354792,p.E468K|uc003egp.3,p.E1599K|uc011bjw.2,p.E1668K|ENST00000346322,p.E1599K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bjw.2	nonsynonymous SNV	exon27	c.G5002A	p.E1668K	SGLSPFMGDNDNETLANVTSATWDF	SGLSPFMGDNDNKTLANVTSATWDF	8.0	5.0	unscreened	-	3466_3:123348433-123348433 C>T_SGLSPFMGDNDNKTLANVTSATWDF
3:178968858-178968858 G>T	0.0	3466	MELANOMA	-	-	-	-	KCNMB3	NM_014407,p.H12N|uc003fjm.3,p.H12N|ENST00000314235,p.H12N	protein_coding, processed_transcript, nonsense_mediated_decay	uc003fjm.3	nonsynonymous SNV	exon1	c.C34A	p.H12N	MDFSPSSELGFHFVAFILLTRHRT	MDFSPSSELGFNFVAFILLTRHRT	4.0	4.0	unscreened	-	3466_3:178968858-178968858 G>T_MDFSPSSELGFNFVAFILLTRHRT
19:51728741-51728741 C>T	0.0	3466	MELANOMA	-	-	-	-	CD33	NM_001772,p.S102F|uc010eos.1,p.S102F|uc002pwa.2,p.S102F|ENST00000262262,p.S102F|NM_001177608,p.S102F|ENST00000391796,p.S102F	retained_intron, protein_coding, processed_transcript	uc010eos.1	nonsynonymous SNV	exon2	c.C305T	p.S102F	FRLLGDPSRNNCSLSIVDARRRDNG	FRLLGDPSRNNCFLSIVDARRRDNG	6.0	2.0	unscreened	-	3466_19:51728741-51728741 C>T_FRLLGDPSRNNCFLSIVDARRRDNG
8:110425768-110425768 G>A	0.0	3466	MELANOMA	-	-	ID=COSM748799;OCCURENCE=1(lung)	-	PKHD1L1	ENST00000378402,p.G785E|NM_177531,p.G785E|uc003yne.3,p.G785E	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon21	c.G2354A	p.G785E	STDTQFTYNFAYGNNWTYTCIDLLD	STDTQFTYNFAYENNWTYTCIDLLD	1.0	9.0	unscreened	-	3466_8:110425768-110425768 G>A_STDTQFTYNFAYENNWTYTCIDLLD
22:30824562-30824562 C>T	0.0	3466	MELANOMA	-	-	-	-	MTFP1	uc010gvy.1,p.H84Y|uc010gvx.1,p.H92Y	 nonsense_mediated_decay,retained_intron, protein_coding	uc010gvy.1	nonsynonymous SNV	exon3	c.C250T	p.H84Y	TLVPGLCIGLLLHVNLLLLPGNVDT	TLVPGLCIGLLLYVNLLLLPGNVDT	4.0	1.0	-	-	3466_22:30824562-30824562 C>T_TLVPGLCIGLLLYVNLLLLPGNVDT
7:122338551-122338551 G>A	0.0	3466	MELANOMA	-	-	-	-	RNF133	NM_139175,p.P141L|ENST00000340112,p.P141L|uc003vkj.1,p.P141L	protein_coding	uc003vkj.1	nonsynonymous SNV	exon1	c.C422T	p.P141L	IYNVPGTGNQVFPMFHQAFEDVVVV	IYNVPGTGNQVFLMFHQAFEDVVVV	1.0	8.0	unscreened	-	3466_7:122338551-122338551 G>A_IYNVPGTGNQVFLMFHQAFEDVVVV
12:65634729-65634729 C>T	1.0	3466	MELANOMA	-	-	-	-	LEMD3	uc001ssl.2,p.L723F|uc009zqo.2,p.L722F|NM_014319,p.L723F|NM_001167614,p.L722F|ENST00000308330,p.L723F	retained_intron, protein_coding, processed_transcript	uc009zqo.2	nonsynonymous SNV	exon9	c.C2164T	p.L722F	KMKKVWDRAVDFLAANESRVRTETR	KMKKVWDRAVDFFAANESRVRTETR	7.0	9.0	unscreened	-	3466_12:65634729-65634729 C>T_KMKKVWDRAVDFFAANESRVRTETR
3:122002633-122002633 C>T	0.0	3466	MELANOMA	-	-	-	-	CASR	NM_001178065,p.P621L|uc003eev.4,p.P611L|NM_000388,p.P611L|ENST00000490131,p.P611L|ENST00000498619,p.P621L|ENST00000296154,p.P611L|uc003eew.4,p.P621L	retained_intron, protein_coding	uc003eew.4	nonsynonymous SNV	exon7	c.C1862T	p.P621L	IAKEIEFLSWTEPFGIALTLFAVLG	IAKEIEFLSWTELFGIALTLFAVLG	1.0	4.0	unscreened	-	3466_3:122002633-122002633 C>T_IAKEIEFLSWTELFGIALTLFAVLG
16:19079020-19079020 C>T	0.0	3466	MELANOMA	-	-	-	-	COQ7	ENST00000568985,p.L12F|ENST00000566049,p.L12F|NM_016138,p.L12F|ENST00000569312,p.L12F|uc002dfr.3,p.L12F|ENST00000321998,p.L12F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dfr.3	nonsynonymous SNV	exon1	c.C34T	p.L12F	MSCAGAAAAPRLWRLRPGARRSLS	MSCAGAAAAPRFWRLRPGARRSLS	6.0	2.0	unscreened	-	3466_16:19079020-19079020 C>T_MSCAGAAAAPRFWRLRPGARRSLS
10:17087047-17087047 G>A	0.0	3466	MELANOMA	-	-	-	-	CUBN	ENST00000377833,p.H1211Y|NM_001081,p.H1211Y|uc001ioo.3,p.H1211Y	protein_coding	uc001ioo.3	nonsynonymous SNV	exon25	c.C3631T	p.H1211Y	HGSAFELEFKDFHLEHHPNCTLDYL	HGSAFELEFKDFYLEHHPNCTLDYL	5.0	1.0	unscreened	-	3466_10:17087047-17087047 G>A_HGSAFELEFKDFYLEHHPNCTLDYL
12:118575943-118575943 C>T	1.0	3466	MELANOMA	-	-	-	-	PEBP1	uc001twu.1,p.P79S|NM_002567,p.P79S|ENST00000261313,p.P79S|uc010szc.1,p.P79S	protein_coding, processed_transcript	uc010szc.1	nonsynonymous SNV	exon2	c.C235T	p.P79S	VLTDPDAPSRKDPKYREWHHFLVVN	VLTDPDAPSRKDSKYREWHHFLVVN	10.0	9.0	-	-	3466_12:118575943-118575943 C>T_VLTDPDAPSRKDSKYREWHHFLVVN
21:37581156-37581156 C>T	1.0	3466	MELANOMA	-	-	-	-	DOPEY2	NM_005128,p.P212L|uc011aeb.2,p.P212L|ENST00000399151,p.P212L|uc002yvg.3,p.P212L	retained_intron, protein_coding, processed_transcript	uc011aeb.2	nonsynonymous SNV	exon4	c.C635T	p.P212L	SVFVVGHINRDAPGREQKYMLGTNH	SVFVVGHINRDALGREQKYMLGTNH	7.0	8.0	unscreened	-	3466_21:37581156-37581156 C>T_SVFVVGHINRDALGREQKYMLGTNH
2:75929390-75929390 T>A	1.0	3466	MELANOMA	-	-	-	-	GCFC2	NM_001201334,p.H16L|ENST00000541687,p.H185L|uc002sno.3,p.H185L|uc002snn.3,p.H16L|ENST00000321027,p.H185L|uc002snp.4,p.H185L|ENST00000470503,p.H185L|NM_001201335,p.H185L|NM_003203,p.H185L	retained_intron, protein_coding, processed_transcript	uc002snp.4	nonsynonymous SNV	exon3	c.A554T	p.H185L	ESEDDPESEPDDHEKRIPFTLRPQT	ESEDDPESEPDDLEKRIPFTLRPQT	7.0	2.0	unscreened	-	3466_2:75929390-75929390 T>A_ESEDDPESEPDDLEKRIPFTLRPQT
11:62951270-62951270 G>A	0.0	3466	MELANOMA	-	-	-	-	SLC22A25	NM_199352,p.R284W|ENST00000306494,p.R284W|uc001nwr.1,p.R284W|uc001nwt.1,p.R284W|ENST00000403374,p.R118W	protein_coding, nonsense_mediated_decay	uc001nwt.1	nonsynonymous SNV	exon5	c.C850T	p.R284W	FFLFSRWLAESARWLIINNKPEEGL	FFLFSRWLAESAWWLIINNKPEEGL	1.0	4.0	unscreened	-	3466_11:62951270-62951270 G>A_FFLFSRWLAESAWWLIINNKPEEGL
3:174951989-174951989 C>T	1.0	3466	MELANOMA	-	-	-	-	NAALADL2	NM_207015,p.L272F|uc003fit.3,p.L272F|uc010hwy.2,p.L79F|uc003fiu.1,p.L265F|ENST00000454872,p.L272F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hwy.2	nonsynonymous SNV	exon3	c.C235T	p.L79F	LYSYAAYSAKGTLKAEVIDVSYGMA	LYSYAAYSAKGTFKAEVIDVSYGMA	5.0	4.0	unscreened	-	3466_3:174951989-174951989 C>T_LYSYAAYSAKGTFKAEVIDVSYGMA
7:143771726-143771726 A>C	0.0	3466	MELANOMA	-	-	-	-	OR2A25	uc011ktx.2,p.K138N|NM_001004488,p.K138N|ENST00000408898,p.K138N	protein_coding	uc011ktx.2	nonsynonymous SNV	exon1	c.A414C	p.K138N	CHPLRYSTIMTWKVCITLALTSWIL	CHPLRYSTIMTWNVCITLALTSWIL	1.0	1.0	unscreened	-	3466_7:143771726-143771726 A>C_CHPLRYSTIMTWNVCITLALTSWIL
9:140123368-140123368 ->C	0.0	3466	MELANOMA	-	-	-	-	RNF224	uc022bqe.1,p.A101fs|ENST00000445101,p.A101fs|NM_001190228,p.A101fs	protein_coding	uc022bqe.1	frameshift insertion	exon3	c.302dupC	p.A101fs	AAFLAVKAEREPARLEPLPLTSLKG	AAFLAVKAEREPAKTRTPAPHLPQRQRHHSAASWAVPCPGTPAPLPPAQILLLGLWQPLLPTPRQPRGL	1.0	1.0	unscreened	-	3466_9:140123368-140123368 ->C_AAFLAVKAEREPAKTRTPAPHLPQRQRHHSAASWAVPCPGTPAPLPPAQILLLGLWQPLLPTPRQPRGL
X:130409177-130409177 C>T	0.0	3466	MELANOMA	-	-	-	-	IGSF1	uc004ewe.4,p.E1095K|uc004ewd.3,p.E1090K|ENST00000370910,p.E1081K|uc004ewf.2,p.E1070K|NM_001170962,p.E1081K|ENST00000370904,p.E1081K|ENST00000370903,p.E1095K|NM_001555,p.E1090K|NM_001170961,p.E1095K|uc022cdv.1,p.E1081K|ENST00000361420,p.E1090K	protein_coding, processed_transcript	uc022cdv.1	nonsynonymous SNV	exon16	c.G3241A	p.E1081K	APGENMTLQCQGELPDSTFVLLKEG	APGENMTLQCQGKLPDSTFVLLKEG	1.0	9.0	unscreened	-	3466_X:130409177-130409177 C>T_APGENMTLQCQGKLPDSTFVLLKEG
19:1043466-1043466 G>A	1.0	3466	MELANOMA	-	-	-	-	ABCA7	uc010dsb.1,p.M170I|ENST00000433129,p.M308I|ENST00000263094,p.M308I|ENST00000435683,p.M170I|NM_019112,p.M308I|uc002lqw.4,p.M308I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dsb.1	nonsynonymous SNV	exon3	c.G510A	p.M170I	LFAPDTPFTRKLMAQVNRTFEELTL	LFAPDTPFTRKLIAQVNRTFEELTL	6.0	2.0	unscreened	-	3466_19:1043466-1043466 G>A_LFAPDTPFTRKLIAQVNRTFEELTL
12:7173169-7173169 C>T	1.0	3466	MELANOMA	-	-	-	-	C1S	uc009zfr.3,p.P89S|NM_001734,p.P256S|uc001qsj.3,p.P256S|ENST00000402681,p.P89S|ENST00000328916,p.P256S|ENST00000542978,p.P89S|uc001qsk.3,p.P256S|uc001qsl.3,p.P256S|NM_201442,p.P256S|ENST00000360817,p.P256S|ENST00000406697,p.P256S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zfr.3	nonsynonymous SNV	exon6	c.C265T	p.P89S	DRQFGPYCGHGFPGPLNIETKSNAL	DRQFGPYCGHGFSGPLNIETKSNAL	10.0	4.0	-	-	3466_12:7173169-7173169 C>T_DRQFGPYCGHGFSGPLNIETKSNAL
19:50029284-50029284 C>T	0.0	3466	MELANOMA	-	-	-	-	FCGRT	ENST00000598076,p.R124C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000598076	nonsynonymous SNV	exon3	c.C370T	p.R124C	GNLEWKAPWISLRGDDTGVLLPTPG	GNLEWKAPWISLCGDDTGVLLPTPG	7.0	2.0	unscreened	-	3466_19:50029284-50029284 C>T_GNLEWKAPWISLCGDDTGVLLPTPG
19:50029284-50029284 C>T	0.0	3466	MELANOMA	-	-	-	-	FCGRT	NM_001136019,p.R336C|ENST00000599988,p.R70C|NM_004107,p.R336C|ENST00000596975,p.R244C|ENST00000426395,p.R336C|ENST00000221466,p.R336C|uc002pog.2,p.R336C|uc002poe.2,p.R336C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002pog.2	nonsynonymous SNV	exon6	c.C1006T	p.R336C	MRSGLPAPWISLRGDDTGVLLPTPG	MRSGLPAPWISLCGDDTGVLLPTPG	7.0	2.0	unscreened	-	3466_19:50029284-50029284 C>T_MRSGLPAPWISLCGDDTGVLLPTPG
7:142651450-142651450 C>T	0.0	3466	MELANOMA	-	-	-	-	KEL	ENST00000476829,p.E179K	retained_intron, protein_coding, processed_transcript	ENST00000476829	nonsynonymous SNV	exon6	c.G535A	p.E179K	GPLRQVIEEIFREYLTYL	GPLRQVIEEIFRKYLTYL	5.0	1.0	unscreened	-	3466_7:142651450-142651450 C>T_GPLRQVIEEIFRKYLTYL
19:45790920-45790920 C>T	1.0	3466	MELANOMA	-	-	-	-	MARK4	NM_001199867,p.P498S|ENST00000262891,p.P498S|uc002pba.2,p.P498S|NM_031417,p.P498S|uc002pbb.2,p.P498S|ENST00000300843,p.P498S	retained_intron, protein_coding, nonsense_mediated_decay	uc002pbb.2	nonsynonymous SNV	exon13	c.C1492T	p.P498S	EIPERRKDSTSTPNNLPPSMMTRRN	EIPERRKDSTSTSNNLPPSMMTRRN	6.0	2.0	-	-	3466_19:45790920-45790920 C>T_EIPERRKDSTSTSNNLPPSMMTRRN
1:28293115-28293115 G>A	1.0	3466	MELANOMA	-	-	-	-	XKR8	ENST00000373884,p.G198S|NM_018053,p.G198S|uc001bph.1,p.G198S	protein_coding, processed_transcript	uc001bph.1	nonsynonymous SNV	exon3	c.G592A	p.G198S	RTCLPSKPLLGLGSSVIYFLWNLLL	RTCLPSKPLLGLSSSVIYFLWNLLL	4.0	8.0	-	-	3466_1:28293115-28293115 G>A_RTCLPSKPLLGLSSSVIYFLWNLLL
1:52838974-52838974 A>G	1.0	3466	MELANOMA	-	-	-	-	ORC1	uc001ctt.3,p.V822A|ENST00000371566,p.V822A|ENST00000371568,p.V822A|uc010oni.2,p.V817A|uc001ctu.3,p.V822A|NM_004153,p.V822A|NM_001190819,p.V817A|NM_001190818,p.V822A	protein_coding, processed_transcript	uc010oni.2	nonsynonymous SNV	exon17	c.T2450C	p.V817A	GLPYPTMSETMAVCSHLGSCRLLLV	GLPYPTMSETMAACSHLGSCRLLLV	3.0	2.0	unscreened	-	3466_1:52838974-52838974 A>G_GLPYPTMSETMAACSHLGSCRLLLV
9:36651812-36651812 C>T	1.0	3466	MELANOMA	-	-	-	-	MELK	ENST00000541717,p.R331C|NM_001256693,p.R137C|uc011lpr.3,p.R260C|uc011lps.3,p.R251C|ENST00000545008,p.R260C|uc011lpn.3,p.R331C|NM_001256685,p.R331C|uc010mll.4,p.R299C|uc011lpq.3,p.R137C|NM_001256687,p.R283C|NM_001256690,p.R260C|uc011lpp.3,p.R283C|NM_001256692,p.R200C|NM_001256691,p.R251C|uc011lpm.3,p.R200C|uc011lpo.3,p.R137C|NM_001256689,p.R299C|NM_014791,p.R331C|ENST00000536860,p.R283C|uc003zzn.4,p.R331C|ENST00000536987,p.R200C|ENST00000536329,p.R260C|NM_001256688,p.R260C|uc010mlm.4,p.R260C|ENST00000543751,p.R299C|ENST00000538311,p.R137C|ENST00000298048,p.R331C	protein_coding, processed_transcript	uc011lps.3	nonsynonymous SNV	exon10	c.C751T	p.R251C	LLLAKKARGKPVRLRLSSFSCGQAS	LLLAKKARGKPVCLRLSSFSCGQAS	6.0	9.0	-	-	3466_9:36651812-36651812 C>T_LLLAKKARGKPVCLRLSSFSCGQAS
2:99651850-99651850 G>A	0.0	3466	MELANOMA	-	-	-	-	TSGA10	ENST00000393483,p.S486F|uc002szg.4,p.S486F|uc010fin.1,p.S486F|uc002szh.4,p.S486F|NM_182911,p.S486F|ENST00000355053,p.S486F|uc002szi.4,p.S486F|ENST00000410001,p.S486F|ENST00000539964,p.S486F|ENST00000393482,p.S486F|NM_025244,p.S486F	retained_intron, protein_coding, processed_transcript	uc010fin.1	nonsynonymous SNV	exon15	c.C1457T	p.S486F	RSYKSQISTLHKSVVKMEEELQKVQ	RSYKSQISTLHKFVVKMEEELQKVQ	6.0	2.0	unscreened	-	3466_2:99651850-99651850 G>A_RSYKSQISTLHKFVVKMEEELQKVQ
9:139697126-139697126 G>A	0.0	3466	MELANOMA	-	-	-	-	CCDC183	uc004cjf.3,p.G185E|ENST00000479371,p.G185E|NM_001039374,p.G185E|ENST00000338005,p.G185E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004cjf.3	nonsynonymous SNV	exon6	c.G554A	p.G185E	LDLLDYLKTVLAGYPIELDKLQNLV	LDLLDYLKTVLAEYPIELDKLQNLV	3.0	9.0	unscreened	-	3466_9:139697126-139697126 G>A_LDLLDYLKTVLAEYPIELDKLQNLV
14:21873383-21873383 G>A	1.0	3466	MELANOMA	-	-	-	-	CHD8	ENST00000557364,p.P1098S|ENST00000399982,p.P1098S|uc001was.2,p.P819S|uc001war.2,p.P1098S|uc001wav.1,p.P261S|NM_020920,p.P819S|ENST00000430710,p.P819S|NM_001170629,p.P1098S	retained_intron, protein_coding, processed_transcript	uc001wav.1	nonsynonymous SNV	exon6	c.C781T	p.P261S	NTMMELRKCCNHPYLINGAEEKILT	NTMMELRKCCNHSYLINGAEEKILT	10.0	6.0	unscreened	-	3466_14:21873383-21873383 G>A_NTMMELRKCCNHSYLINGAEEKILT
6:31744345-31744345 G>-	0.0	3466	MELANOMA	-	-	-	-	VWA7	uc011dog.2,p.P71fs|ENST00000375686,p.P71fs|ENST00000447450,p.P71fs|ENST00000375688,p.P71fs|NM_025258,p.P71fs	retained_intron, protein_coding, processed_transcript	uc011dog.2	frameshift deletion	exon2	c.212delC	p.P71fs	QLFLEQPPPGRPPLRLEDFLGRTLL	QLFLEQPPPGRPLFVLRTSWVEHSLLMTSLPPTLDLVLLGGSEQP	1.0	1.0	unscreened	-	3466_6:31744345-31744345 G>-_QLFLEQPPPGRPLFVLRTSWVEHSLLMTSLPPTLDLVLLGGSEQP
2:166771919-166771919 T>C	1.0	3466	MELANOMA	-	-	-	-	TTC21B	ENST00000243344,p.I644V|uc002udk.3,p.I644V|NM_024753,p.I644V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002udk.3	nonsynonymous SNV	exon15	c.A1930G	p.I644V	EQHEATKVLQDAIHEFSGTSEEVRV	EQHEATKVLQDAVHEFSGTSEEVRV	6.0	2.0	-	-	3466_2:166771919-166771919 T>C_EQHEATKVLQDAVHEFSGTSEEVRV
7:21751379-21751379 G>A	0.0	3466	MELANOMA	-	-	-	-	DNAH11	NM_001277115,p.R2295K|uc031swq.1,p.R492K|ENST00000409508,p.R2295K|ENST00000328843,p.R2302K|uc031swp.1,p.R2295K	retained_intron, protein_coding, processed_transcript	uc031swq.1	nonsynonymous SNV	exon42	c.G1475A	p.R492K	ASNERIALTPFMRLLFEIHHLRSAT	ASNERIALTPFMKLLFEIHHLRSAT	1.0	9.0	unscreened	-	3466_7:21751379-21751379 G>A_ASNERIALTPFMKLLFEIHHLRSAT
8:27296616-27296616 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1686056,COSM1686055,COSM1686054;OCCURENCE=1(skin)	-	PTK2B	uc003xfp.2,p.S571F|ENST00000517339,p.S571F|ENST00000420218,p.S571F|ENST00000346049,p.S571F|ENST00000544172,p.S571F|NM_173175,p.S571F|NM_004103,p.S571F|uc003xfn.2,p.S571F|uc003xfq.2,p.S571F|NM_173176,p.S571F|ENST00000397501,p.S571F|NM_173174,p.S571F|ENST00000397497,p.S317F|ENST00000338238,p.S571F|uc022ate.1,p.S571F|uc003xfr.1,p.S317F	retained_intron, protein_coding, processed_transcript	uc022ate.1	nonsynonymous SNV	exon20	c.C1712T	p.S571F	SPECVKLGDFGLSRYIEDEDYYKAS	SPECVKLGDFGLFRYIEDEDYYKAS	6.0	8.0	unscreened	-	3466_8:27296616-27296616 C>T_SPECVKLGDFGLFRYIEDEDYYKAS
22:24224965-24224965 C>T	0.0	3466	MELANOMA	-	-	-	-	SLC2A11	NM_001024938,p.S298F|uc011ajc.1,p.S305F|uc002zym.4,p.S305F|ENST00000345044,p.S298F|ENST00000398356,p.S305F|NM_030807,p.S305F|NM_001282864,p.S305F|NM_001024939,p.S301F|uc002zyn.4,p.S298F|ENST00000316185,p.S301F|uc002zyp.4,p.S301F|uc002zyl.1,p.S305F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ajc.1	nonsynonymous SNV	exon8	c.C914T	p.S305F	LCGNDSVYAYASSVFRKAGVPEAKI	LCGNDSVYAYASFVFRKAGVPEAKI	6.0	7.0	unscreened	-	3466_22:24224965-24224965 C>T_LCGNDSVYAYASFVFRKAGVPEAKI
1:159272209-159272209 G>A	0.0	3466	MELANOMA	-	-	-	-	FCER1A	uc001ftq.3,p.A19T|NM_002001,p.A19T|ENST00000368115,p.A19T	protein_coding	uc001ftq.3	nonsynonymous SNV	exon2	c.G55A	p.A19T	SPTLLCVALLFFAPDGVLAVPQKPK	SPTLLCVALLFFTPDGVLAVPQKPK	1.0	6.0	unscreened	-	3466_1:159272209-159272209 G>A_SPTLLCVALLFFTPDGVLAVPQKPK
X:50054197-50054197 G>A	0.0	3466	MELANOMA	-	-	-	-	CCNB3	uc004dox.4,p.E1010K|uc004doy.3,p.E1010K|ENST00000276014,p.E1010K|NM_033031,p.E1010K|ENST00000376042,p.E1010K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004doy.3	nonsynonymous SNV	exon5	c.G3028A	p.E1010K	GKSGTINEAFLFEDMITLNEKPTTG	GKSGTINEAFLFKDMITLNEKPTTG	2.0	9.0	unscreened	-	3466_X:50054197-50054197 G>A_GKSGTINEAFLFKDMITLNEKPTTG
2:189904043-189904043 G>T	1.0	3466	MELANOMA	-	-	-	-	COL5A2	ENST00000374866,p.R1294S|NM_000393,p.R1294S|uc010frx.3,p.R870S|uc002uqk.3,p.R1294S	retained_intron, protein_coding	uc010frx.3	nonsynonymous SNV	exon35	c.C2608A	p.R870S	MRSPDGSKKHPARTCDDLKLCHSAK	MRSPDGSKKHPASTCDDLKLCHSAK	10.0	6.0	unscreened	-	3466_2:189904043-189904043 G>T_MRSPDGSKKHPASTCDDLKLCHSAK
2:152482089-152482089 C>T	0.0	3466	MELANOMA	-	-	-	-	NEB	ENST00000604864,p.E3471K|uc021vrd.1,p.E3228K|ENST00000603639,p.E3471K|ENST00000427231,p.E3471K|NM_001271208,p.E3471K|NM_001164508,p.E3471K|ENST00000397345,p.E3471K|uc021vrb.1,p.E3228K|NM_001164507,p.E3471K|ENST00000172853,p.E3228K|uc002txu.3,p.E3471K|ENST00000409198,p.E3228K|uc021vrc.1,p.E3471K|uc031rpp.1,p.E3471K	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon71	c.G10411A	p.E3471K	DKTQVHIMPDTPEIMLARQNKINYS	DKTQVHIMPDTPKIMLARQNKINYS	6.0	6.0	unscreened	-	3466_2:152482089-152482089 C>T_DKTQVHIMPDTPKIMLARQNKINYS
11:5809177-5809177 C>T	0.0	3466	MELANOMA	-	-	-	-	OR52N1	NM_001001913,p.M290I|ENST00000317078,p.M290I|uc010qzo.2,p.M290I	protein_coding	uc010qzo.2	nonsynonymous SNV	exon1	c.G870A	p.M290I	IMANLYLLMPPTMNPIVYGVKTRQV	IMANLYLLMPPTINPIVYGVKTRQV	1.0	4.0	unscreened	-	3466_11:5809177-5809177 C>T_IMANLYLLMPPTINPIVYGVKTRQV
8:72755927-72755927 A>G	1.0	3466	MELANOMA	-	-	-	-	MSC	ENST00000522519,p.T74A	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000522519	nonsynonymous SNV	exon1	c.A220G	p.T74A	GARSRSHSGPPATAAAVSLSPPSAP	GARSRSHSGPPAAAAAVSLSPPSAP	5.0	9.0	unscreened	-	3466_8:72755927-72755927 A>G_GARSRSHSGPPAAAAAVSLSPPSAP
6:169633031-169633031 G>A	0.0	3466	MELANOMA	-	-	-	-	THBS2	uc003qwt.3,p.P578L|ENST00000366787,p.P578L|NM_003247,p.P578L	protein_coding, processed_transcript	uc003qwt.3	nonsynonymous SNV	exon12	c.C1733T	p.P578L	SFPDGSWSCGSCPVGFLGNGTHCED	SFPDGSWSCGSCLVGFLGNGTHCED	9.0	9.0	unscreened	-	3466_6:169633031-169633031 G>A_SFPDGSWSCGSCLVGFLGNGTHCED
2:84913631-84913631 G>A	0.0	3466	MELANOMA	-	-	-	-	DNAH6	ENST00000389394,p.D2363N|ENST00000237449,p.D2363N|uc010fgb.3,p.D2363N|NM_001370,p.D2363N	retained_intron, protein_coding, processed_transcript	uc010fgb.3	nonsynonymous SNV	exon44	c.G7087A	p.D2363N	TEMANKHFGIAIDLEYFLNKPIIFG	TEMANKHFGIAINLEYFLNKPIIFG	1.0	3.0	unscreened	-	3466_2:84913631-84913631 G>A_TEMANKHFGIAINLEYFLNKPIIFG
6:29054269-29054269 C>T	0.0	3466	MELANOMA	-	-	-	-	OR2B3	NM_001005226,p.G253R|uc003nlx.3,p.G253R|ENST00000377173,p.G253R	protein_coding	uc003nlx.3	nonsynonymous SNV	exon1	c.G757A	p.G253R	CGSHMIVVSLFYGTAIYMYLQPPSS	CGSHMIVVSLFYRTAIYMYLQPPSS	1.0	9.0	unscreened	-	3466_6:29054269-29054269 C>T_CGSHMIVVSLFYRTAIYMYLQPPSS
19:37853287-37853287 C>T	1.0	3466	MELANOMA	-	-	-	-	HKR1	uc002oga.3,p.S179F|NM_181786,p.S197F|ENST00000541583,p.S136F|uc010xtp.2,p.S136F|uc002ogd.3,p.S136F|uc010xto.2,p.S179F|ENST00000324411,p.S197F|ENST00000392153,p.S178F|uc002ogc.3,p.S178F|uc002ogb.3,p.S197F|ENST00000589392,p.S179F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xtp.2	nonsynonymous SNV	exon4	c.C407T	p.S136F	GRVSKNGTSKALSSPPEEQQPAQSK	GRVSKNGTSKALFSPPEEQQPAQSK	9.0	1.0	unscreened	-	3466_19:37853287-37853287 C>T_GRVSKNGTSKALFSPPEEQQPAQSK
6:160828155-160828155 C>T	0.0	3466	MELANOMA	-	-	-	-	SLC22A3	uc003qti.4,p.P206S|NM_021977,p.P206S|ENST00000392145,p.P206S|ENST00000275300,p.P206S	protein_coding	uc003qti.4	nonsynonymous SNV	exon3	c.C616T	p.P206S	VTGVVVAFAPNFPVFVIFRFLQGVF	VTGVVVAFAPNFSVFVIFRFLQGVF	1.0	9.0	unscreened	-	3466_6:160828155-160828155 C>T_VTGVVVAFAPNFSVFVIFRFLQGVF
11:5410855-5410855 C>T	0.0	3466	MELANOMA	-	-	-	-	OR51M1	NM_001004756,p.S76F|ENST00000328611,p.S76F|uc010qzc.2,p.S76F	protein_coding	uc010qzc.2	nonsynonymous SNV	exon1	c.C227T	p.S76F	NPRLHTPMYYLLSLLALTDLGLCVS	NPRLHTPMYYLLFLLALTDLGLCVS	1.0	7.0	unscreened	-	3466_11:5410855-5410855 C>T_NPRLHTPMYYLLFLLALTDLGLCVS
1:176659561-176659561 A>G	0.0	3466	MELANOMA	-	-	-	-	PAPPA2	ENST00000367661,p.Y809C|uc001gky.1,p.Y809C|NM_021936,p.Y809C	protein_coding, processed_transcript	uc001gky.1	nonsynonymous SNV	exon5	c.A2426G	p.Y809C	RFPGAPFTNYMSYTGITTVLFCFLL	RFPGAPFTNYMSCTGITTVLFCFLL	1.0	3.0	unscreened	-	3466_1:176659561-176659561 A>G_RFPGAPFTNYMSCTGITTVLFCFLL
19:31040230-31040230 G>A	1.0	3466	MELANOMA	-	-	-	-	ZNF536	uc010edd.1,p.S1235N|uc002nsu.1,p.S1235N|NM_014717,p.S1235N|ENST00000355537,p.S1235N	protein_coding, processed_transcript	uc010edd.1	nonsynonymous SNV	exon4	c.G3704A	p.S1235N	SPLSQAPEKQWHSQGLLQAQDPLAG	SPLSQAPEKQWHNQGLLQAQDPLAG	7.0	2.0	unscreened	-	3466_19:31040230-31040230 G>A_SPLSQAPEKQWHNQGLLQAQDPLAG
6:169621604-169621604 C>T	1.0	3466	MELANOMA	-	-	ID=COSM1076103;OCCURENCE=1(endometrium)	-	THBS2	NM_003247,p.D1098N|ENST00000366787,p.D1098N|uc003qwt.3,p.D1098N	protein_coding, processed_transcript	uc003qwt.3	nonsynonymous SNV	exon21	c.G3292A	p.D1098N	GNTPGQVRTLWHDPRNIGWKDYTAY	GNTPGQVRTLWHNPRNIGWKDYTAY	9.0	9.0	unscreened	-	3466_6:169621604-169621604 C>T_GNTPGQVRTLWHNPRNIGWKDYTAY
2:85857865-85857865 C>T	1.0	3466	MELANOMA	-	-	-	-	USP39	NM_001256728,p.L146F|uc002sqg.4,p.L249F|uc010ysv.3,p.L146F|ENST00000409766,p.L249F|ENST00000323701,p.L249F|ENST00000409470,p.L249F|NM_001256725,p.L249F|ENST00000450066,p.L146F|uc002sqe.4,p.L249F|uc010fgn.2,p.L249F|NM_006590,p.L249F|uc010fgo.4,p.L249F|NM_001256727,p.L171F|NM_001256726,p.L249F|ENST00000409025,p.L249F|uc010ysu.3,p.L171F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ysv.3	nonsynonymous SNV	exon5	c.C436T	p.L146F	NAVLQALSNVPPLRNYFLEEDNYKN	NAVLQALSNVPPFRNYFLEEDNYKN	9.0	6.0	-	-	3466_2:85857865-85857865 C>T_NAVLQALSNVPPFRNYFLEEDNYKN
16:57559876-57559876 G>A	1.0	3466	MELANOMA	-	-	-	-	CCDC102A	ENST00000258214,p.S250F|NM_033212,p.S250F|uc002elw.3,p.S250F	retained_intron, protein_coding	uc002elw.3	nonsynonymous SNV	exon3	c.C749T	p.S250F	PWEDTAATEEEASKLTALRLRLDES	PWEDTAATEEEAFKLTALRLRLDES	4.0	8.0	unscreened	-	3466_16:57559876-57559876 G>A_PWEDTAATEEEAFKLTALRLRLDES
7:113558846-113558846 G>A	0.0	3466	MELANOMA	-	-	-	-	PPP1R3A	NM_002711,p.S69F|uc010ljy.1,p.S69F|ENST00000284601,p.S69F	protein_coding, nonsense_mediated_decay	uc010ljy.1	nonsynonymous SNV	exon1	c.C206T	p.S69F	PSSGTRRVSFADSFGFNLVSVKEFD	PSSGTRRVSFADFFGFNLVSVKEFD	1.0	9.0	unscreened	-	3466_7:113558846-113558846 G>A_PSSGTRRVSFADFFGFNLVSVKEFD
11:121403216-121403216 G>A	0.0	3466	MELANOMA	-	-	ID=COSM686809;OCCURENCE=1(lung)	-	SORL1	NM_003105,p.G547E|ENST00000260197,p.G547E|uc001pxx.3,p.G547E	retained_intron, protein_coding, processed_transcript	uc001pxx.3	nonsynonymous SNV	exon12	c.G1640A	p.G547E	PGPHYYTWGDHGGIITAIAQGMETN	PGPHYYTWGDHGEIITAIAQGMETN	7.0	3.0	unscreened	-	3466_11:121403216-121403216 G>A_PGPHYYTWGDHGEIITAIAQGMETN
15:53907884-53907884 G>A	0.0	3466	MELANOMA	-	-	-	-	WDR72	ENST00000559418,p.S850L|ENST00000360509,p.S840L|NM_182758,p.S840L|uc010bfi.1,p.S840L|ENST00000557913,p.S837L|uc031qse.1,p.S840L|ENST00000396328,p.S840L|uc002acj.2,p.S840L	protein_coding, processed_transcript	uc031qse.1	nonsynonymous SNV	exon15	c.C2519T	p.S840L	ISLGISLNEDNFSLMLPGWDLCNSG	ISLGISLNEDNFLLMLPGWDLCNSG	3.0	1.0	unscreened	-	3466_15:53907884-53907884 G>A_ISLGISLNEDNFLLMLPGWDLCNSG
8:27145570-27145570 G>A	1.0	3466	MELANOMA	-	-	-	-	TRIM35	uc003xfl.1,p.H327Y|ENST00000305364,p.H327Y|NM_171982,p.H327Y	retained_intron, protein_coding	uc003xfl.1	nonsynonymous SNV	exon6	c.C979T	p.H327Y	LSVSDDLTSVTNHGYRVQVENPERF	LSVSDDLTSVTNYGYRVQVENPERF	8.0	8.0	-	-	3466_8:27145570-27145570 G>A_LSVSDDLTSVTNYGYRVQVENPERF
7:138603675-138603675 G>A	0.0	3466	MELANOMA	-	-	ID=COSM261631,COSM261630;OCCURENCE=1(large_intestine)	2	KIAA1549	ENST00000440172,p.R233W|ENST00000422774,p.R233W|NM_020910,p.R233W|uc011kqj.2,p.R233W|uc011kql.2,p.R233W|ENST00000242365,p.R183W|NM_001164665,p.R233W	protein_coding	uc011kql.2	nonsynonymous SNV	exon2	c.C697T	p.R233W	AYAESASHFHTFRSAFRTSEGIVPT	AYAESASHFHTFWSAFRTSEGIVPT	2.0	9.0	unscreened	-	3466_7:138603675-138603675 G>A_AYAESASHFHTFWSAFRTSEGIVPT
8:77616808-77616808 C>T	0.0	3466	MELANOMA	-	-	-	-	ZFHX4	uc003yau.2,p.S162F|ENST00000518282,p.S162F|uc003yaw.1,p.S162F|NM_024721,p.S162F|ENST00000455469,p.S162F|uc003yat.1,p.S162F|ENST00000521891,p.S162F|ENST00000050961,p.S162F	retained_intron, protein_coding, nonsense_mediated_decay	uc003yaw.1	nonsynonymous SNV	exon1	c.C485T	p.S162F	QNAQTGANSKLFSTAMFLDSLASAG	QNAQTGANSKLFFTAMFLDSLASAG	4.0	8.0	unscreened	-	3466_8:77616808-77616808 C>T_QNAQTGANSKLFFTAMFLDSLASAG
6:44144383-44144383 G>A	0.0	3466	MELANOMA	-	-	-	-	CAPN11	uc003owt.1,p.G356E|ENST00000398776,p.G356E|ENST00000542245,p.G356E|NM_007058,p.G356E	retained_intron, protein_coding, nonsense_mediated_decay	uc003owt.1	nonsynonymous SNV	exon10	c.G1067A	p.G356E	DIQMQLLHKTEDGEFWMSYQDFLNN	DIQMQLLHKTEDEEFWMSYQDFLNN	1.0	9.0	unscreened	-	3466_6:44144383-44144383 G>A_DIQMQLLHKTEDEEFWMSYQDFLNN
5:153026580-153026580 C>T	0.0	3466	MELANOMA	-	-	-	-	GRIA1	ENST00000518783,p.H115Y|uc011dcx.2,p.H36Y|NM_001258021,p.H115Y|ENST00000521843,p.H36Y|uc003lva.4,p.H105Y|NM_001258022,p.H115Y|uc003luy.4,p.H105Y|ENST00000448073,p.H115Y|uc011dcz.2,p.H115Y|NM_001258023,p.H36Y|uc010jia.1,p.H85Y|NM_000827,p.H105Y|ENST00000340592,p.H105Y|ENST00000285900,p.H105Y|uc011dcy.2,p.H115Y|NM_001114183,p.H105Y	retained_intron, protein_coding, processed_transcript	uc011dcz.2	nonsynonymous SNV	exon3	c.C343T	p.H115Y	TVNMLTSFCGALHVCFITPSFPVDT	TVNMLTSFCGALYVCFITPSFPVDT	1.0	9.0	unscreened	-	3466_5:153026580-153026580 C>T_TVNMLTSFCGALYVCFITPSFPVDT
17:7218307-7218307 A>T	1.0	3466	MELANOMA	-	-	-	-	GPS2	uc002gfx.1,p.I22N|ENST00000391950,p.I22N|NM_004489,p.I22N|ENST00000389167,p.I22N|ENST00000577040,p.I22N|uc002gfz.1,p.I22N|ENST00000380728,p.I22N	retained_intron, protein_coding	uc002gfz.1	nonsynonymous SNV	exon10	c.T65A	p.I22N	LSNAMARALHRHIMMERERKRQEEE	LSNAMARALHRHNMMERERKRQEEE	8.0	9.0	-	-	3466_17:7218307-7218307 A>T_LSNAMARALHRHNMMERERKRQEEE
1:75685015-75685015 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1639969,COSM1639970;OCCURENCE=1(stomach)	-	SLC44A5	uc001dgt.2,p.S398L|NM_152697,p.S398L|ENST00000535611,p.S268L|ENST00000370855,p.S398L|uc001dgs.2,p.S356L|uc010oqz.1,p.S437L|uc010ora.2,p.S392L|uc001dgu.3,p.S398L|uc001dgr.2,p.S356L|ENST00000370859,p.S398L|uc010orb.2,p.S268L|NM_001130058,p.S398L	protein_coding, processed_transcript	uc010orb.2	nonsynonymous SNV	exon14	c.C803T	p.S268L	CYWVVTAVFLATSGVPVYKVIAPGG	CYWVVTAVFLATLGVPVYKVIAPGG	1.0	8.0	unscreened	-	3466_1:75685015-75685015 G>A_CYWVVTAVFLATLGVPVYKVIAPGG
15:48522666-48522666 G>A	0.0	3466	MELANOMA	-	-	-	-	SLC12A1	uc010uew.1,p.G120E|uc010bem.3,p.G314E|ENST00000396577,p.G314E|ENST00000330289,p.G314E|ENST00000559641,p.G127E|uc001zwr.4,p.G41E|NM_001184832,p.G314E|ENST00000558405,p.G314E|uc010uex.2,p.G314E|uc001zwn.4,p.G314E|uc001zwq.4,p.G85E|NM_000338,p.G314E|ENST00000380993,p.G314E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uex.2	nonsynonymous SNV	exon6	c.G941A	p.G314E	RIIGSITVVILLGISVAGMEWEAKA	RIIGSITVVILLEISVAGMEWEAKA	1.0	8.0	unscreened	-	3466_15:48522666-48522666 G>A_RIIGSITVVILLEISVAGMEWEAKA
5:140580123-140580123 C>T	0.0	3466	MELANOMA	-	-	-	-	PCDHB11	NM_018931,p.S259L|uc003liy.3,p.S259L|ENST00000354757,p.S259L	protein_coding	uc003liy.3	nonsynonymous SNV	exon1	c.C776T	p.S259L	YEVKIRENSILGSLILIVSAWDLDS	YEVKIRENSILGLLILIVSAWDLDS	5.0	9.0	unscreened	-	3466_5:140580123-140580123 C>T_YEVKIRENSILGLLILIVSAWDLDS
20:8689378-8689378 C>T	1.0	3466	MELANOMA	-	-	ID=COSM1029318,COSM1029319;OCCURENCE=1(endometrium)	-	PLCB1	ENST00000378641,p.S410L|NM_015192,p.S410L|uc002wnc.1,p.S309L|uc002wna.4,p.S410L|uc010zrb.1,p.S309L|ENST00000378637,p.S410L|NM_182734,p.S410L|uc002wnb.4,p.S410L|ENST00000338037,p.S410L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zrb.1	nonsynonymous SNV	exon12	c.C926T	p.S309L	CAFKTSPFPILLSFENHVDSPKQQA	CAFKTSPFPILLLFENHVDSPKQQA	5.0	4.0	-	-	3466_20:8689378-8689378 C>T_CAFKTSPFPILLLFENHVDSPKQQA
17:79668605-79668605 C>T	1.0	3466	MELANOMA	-	-	-	-	HGS	NM_004712,p.P764L|ENST00000329138,p.P764L|uc002kbg.3,p.P764L	retained_intron, protein_coding, nonsense_mediated_decay	uc002kbg.3	nonsynonymous SNV	exon22	c.C2291T	p.P764L	QPPVAQQPQAQGPPAQGSEAQLISF	QPPVAQQPQAQGLPAQGSEAQLISF	10.0	9.0	unscreened	-	3466_17:79668605-79668605 C>T_QPPVAQQPQAQGLPAQGSEAQLISF
13:99378639-99378639 G>A	0.0	3466	MELANOMA	-	-	ID=COSM225017;OCCURENCE=1(skin)	-	SLC15A1	uc001vno.3,p.S29F|NM_005073,p.S29F|ENST00000376503,p.S29F	protein_coding	uc001vno.3	nonsynonymous SNV	exon3	c.C86T	p.S29F	FFIVVNEFCERFSYYGMRAILILYF	FFIVVNEFCERFFYYGMRAILILYF	1.0	9.0	unscreened	-	3466_13:99378639-99378639 G>A_FFIVVNEFCERFFYYGMRAILILYF
9:139755017-139755017 G>A	1.0	3466	MELANOMA	-	-	-	-	MAMDC4	uc011mej.2,p.G463S|ENST00000317446,p.G1126S|NM_206920,p.G1126S|uc004cjs.3,p.G1126S|ENST00000445819,p.G1205S	protein_coding, processed_transcript, nonsense_mediated_decay	uc011mej.2	nonsynonymous SNV	exon25	c.G1387A	p.G463S	APGFDNILFNADGVTLPASVTSDP	APGFDNILFNADSVTLPASVTSDP	3.0	9.0	unscreened	-	3466_9:139755017-139755017 G>A_APGFDNILFNADSVTLPASVTSDP
11:56310526-56310526 C>T	0.0	3466	MELANOMA	-	-	-	-	OR5M11	uc010rjl.2,p.D70N|NM_001005245,p.D70N|ENST00000528616,p.D70N	protein_coding	uc010rjl.2	nonsynonymous SNV	exon1	c.G208A	p.D70N	PMYFFLTNLAFVDLCYTSNATPQMS	PMYFFLTNLAFVNLCYTSNATPQMS	1.0	6.0	unscreened	-	3466_11:56310526-56310526 C>T_PMYFFLTNLAFVNLCYTSNATPQMS
12:124827700-124827700 G>A	1.0	3466	MELANOMA	-	-	-	1	NCOR2	uc010tba.2,p.P1604L|ENST00000429285,p.P1586L|ENST00000404121,p.P1157L|ENST00000356219,p.P1603L|uc010tbc.2,p.P1586L|NM_001077261,p.P1586L|NM_006312,p.P1596L|uc010tbb.2,p.P1596L|ENST00000397355,p.P1587L|uc021rgc.1,p.P1586L|ENST00000404621,p.P1586L|ENST00000405201,p.P1596L|NM_001206654,p.P1586L	retained_intron, protein_coding	uc021rgc.1	nonsynonymous SNV	exon34	c.C4757T	p.P1586L	KLTSTPREIAKSPHSTVPEHHPHPI	KLTSTPREIAKSLHSTVPEHHPHPI	9.0	9.0	-	-	3466_12:124827700-124827700 G>A_KLTSTPREIAKSLHSTVPEHHPHPI
19:49686350-49686350 G>A	0.0	3466	MELANOMA	-	-	-	-	TRPM4	uc002pmx.3,p.D368N|ENST00000427978,p.D542N|uc002pmw.3,p.D542N|NM_001195227,p.D542N|uc010emv.3,p.D427N|ENST00000355712,p.D188N|ENST00000252826,p.D542N|uc010yal.2,p.D188N|NM_017636,p.D542N|uc010emu.3,p.D542N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yal.2	nonsynonymous SNV	exon7	c.G562A	p.D188N	GQGFGESMYLLSDKATSPLSLDAGL	GQGFGESMYLLSNKATSPLSLDAGL	6.0	1.0	unscreened	-	3466_19:49686350-49686350 G>A_GQGFGESMYLLSNKATSPLSLDAGL
10:63170465-63170465 C>T	0.0	3466	MELANOMA	-	-	-	-	TMEM26	NM_178505,p.G241E|uc001jlo.2,p.G241E|ENST00000399298,p.G241E|ENST00000503886,p.G241E	protein_coding, processed_transcript, nonsense_mediated_decay	uc001jlo.2	nonsynonymous SNV	exon6	c.G722A	p.G241E	QNVVCPVSVTERGFPSLFFCQYSAD	QNVVCPVSVTEREFPSLFFCQYSAD	4.0	5.0	unscreened	-	3466_10:63170465-63170465 C>T_QNVVCPVSVTEREFPSLFFCQYSAD
16:88555547-88555547 C>T	0.0	3466	MELANOMA	-	-	-	-	ZFPM1	ENST00000319555,p.P85L|NM_153813,p.P85L|uc002fkv.3,p.P85L	retained_intron, protein_coding, processed_transcript	uc002fkv.3	nonsynonymous SNV	exon3	c.C254T	p.P85L	PEPRPTEEEPGSPWSGPDELEPVVQ	PEPRPTEEEPGSLWSGPDELEPVVQ	1.0	3.0	unscreened	-	3466_16:88555547-88555547 C>T_PEPRPTEEEPGSLWSGPDELEPVVQ
3:38888816-38888816 G>A	0.0	3466	MELANOMA	-	-	ID=COSM107353;OCCURENCE=1(skin)	-	SCN11A	ENST00000456224,p.S1544F|NM_001287223,p.S1582F|ENST00000302328,p.S1582F|uc021wvy.1,p.S1582F|NM_014139,p.S1582F|ENST00000450244,p.S1582F	protein_coding	uc021wvy.1	nonsynonymous SNV	exon26	c.C4745T	p.S1582F	SSENCHLPGIATSYFVSYIIISFLI	SSENCHLPGIATFYFVSYIIISFLI	1.0	3.0	unscreened	-	3466_3:38888816-38888816 G>A_SSENCHLPGIATFYFVSYIIISFLI
5:55252054-55252054 G>A	1.0	3466	MELANOMA	-	-	-	1	IL6ST	NM_002184,p.P356S|ENST00000502326,p.P356S|uc003jqq.3,p.P356S|uc010iwb.3,p.P356S|uc011cqk.2,p.P67S|ENST00000381294,p.P356S|ENST00000381298,p.P356S|ENST00000336909,p.P356S|NM_001190981,p.P356S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cqk.2	nonsynonymous SNV	exon10	c.C199T	p.P67S	YRTVQLVWKTLPPFEANGKILDYEV	YRTVQLVWKTLPSFEANGKILDYEV	10.0	9.0	unscreened	-	3466_5:55252054-55252054 G>A_YRTVQLVWKTLPSFEANGKILDYEV
2:103281781-103281781 G>A	0.0	3466	MELANOMA	-	-	-	-	SLC9A2	ENST00000233969,p.E326K|NM_003048,p.E326K|uc002tca.3,p.E326K	retained_intron, protein_coding, processed_transcript	uc002tca.3	nonsynonymous SNV	exon3	c.G976A	p.E326K	VFLYSYLSYITAEMFHLSGIMAITA	VFLYSYLSYITAKMFHLSGIMAITA	1.0	2.0	unscreened	-	3466_2:103281781-103281781 G>A_VFLYSYLSYITAKMFHLSGIMAITA
3:62258754-62258754 G>A	0.0	3466	MELANOMA	-	-	-	-	PTPRG	uc003dlc.3,p.E1077K|ENST00000295874,p.E1077K|uc003dlb.3,p.E1106K|uc011bfi.2,p.E352K|NM_002841,p.E1106K|ENST00000474889,p.E1106K	retained_intron, protein_coding, processed_transcript	uc011bfi.2	nonsynonymous SNV	exon10	c.G1054A	p.E352K	HIRTQRNYLVQTEEQYIFIHDALLE	HIRTQRNYLVQTKEQYIFIHDALLE	6.0	8.0	-	-	3466_3:62258754-62258754 G>A_HIRTQRNYLVQTKEQYIFIHDALLE
6:38738300-38738300 G>A	0.0	3466	MELANOMA	-	-	-	-	DNAH8	ENST00000441566,p.G360R|ENST00000327475,p.G565R|NM_001206927,p.G577R|uc003ooe.2,p.G360R|ENST00000359357,p.G360R|uc021yzh.1,p.G577R|ENST00000449981,p.G577R	protein_coding	uc021yzh.1	nonsynonymous SNV	exon12	c.G1729A	p.G577R	EKSFEVSEMYIFGKFEAFCKRLEKI	EKSFEVSEMYIFRKFEAFCKRLEKI	1.0	1.0	unscreened	-	3466_6:38738300-38738300 G>A_EKSFEVSEMYIFRKFEAFCKRLEKI
10:62038626-62038626 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1702534;OCCURENCE=2(skin)	-	ANK3	uc001jky.3,p.G107E|NM_020987,p.G107E|NM_001204403,p.G101E|ENST00000503366,p.G90E|ENST00000503925,p.G81E|ENST00000373827,p.G101E|uc010qih.2,p.G90E|uc001jkz.4,p.G101E|NM_001204404,p.G90E|ENST00000280772,p.G107E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qih.2	nonsynonymous SNV	exon4	c.G269A	p.G90E	QREANVDAATKKGNTALHIASLAGQ	QREANVDAATKKENTALHIASLAGQ	5.0	6.0	-	-	3466_10:62038626-62038626 C>T_QREANVDAATKKENTALHIASLAGQ
9:116811278-116811278 C>T	1.0	3466	MELANOMA	-	-	-	-	ZNF618	ENST00000374126,p.L566F|ENST00000288466,p.L473F|uc011lxi.2,p.L533F|uc011lxj.2,p.L534F|uc010mvb.3,p.L156F|uc004bic.3,p.L473F|NM_133374,p.L473F|uc004bid.3,p.L566F	protein_coding, processed_transcript	uc011lxj.2	nonsynonymous SNV	exon14	c.C1600T	p.L534F	HSQSVGPDSCYILTAYQAEGNHIKS	HSQSVGPDSCYIFTAYQAEGNHIKS	7.0	9.0	unscreened	-	3466_9:116811278-116811278 C>T_HSQSVGPDSCYIFTAYQAEGNHIKS
1:16378003-16378003 C>T	0.0	3466	MELANOMA	-	-	-	-	CLCNKB	NM_001165945,p.P251S|uc021ogl.1,p.P67S|NM_000085,p.P420S|uc001axy.5,p.P251S|ENST00000375679,p.P420S|uc001axx.5,p.P420S|ENST00000375667,p.P251S	protein_coding	uc021ogl.1	nonsynonymous SNV	exon2	c.C199T	p.P67S	MKFWMLILATTIPMPAGYFMPIFVY	MKFWMLILATTISMPAGYFMPIFVY	1.0	8.0	unscreened	-	3466_1:16378003-16378003 C>T_MKFWMLILATTISMPAGYFMPIFVY
7:24718810-24718810 G>A	1.0	3466	MELANOMA	-	-	-	-	MPP6	ENST00000396475,p.R392Q|uc003swy.3,p.R392Q|NM_016447,p.R392Q|uc003swx.3,p.R392Q|ENST00000222644,p.R392Q|ENST00000409761,p.R280Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003swy.3	nonsynonymous SNV	exon10	c.G1175A	p.R392Q	DEKDGQAYKFVSRSEMEADIKAGKY	DEKDGQAYKFVSQSEMEADIKAGKY	5.0	9.0	unscreened	-	3466_7:24718810-24718810 G>A_DEKDGQAYKFVSQSEMEADIKAGKY
1:94481400-94481400 G>A	0.0	3466	MELANOMA	-	-	-	-	ABCA4	NM_000350,p.S1736F|uc001dqh.3,p.S1736F|ENST00000370225,p.S1736F	protein_coding, processed_transcript	uc001dqh.3	nonsynonymous SNV	exon37	c.C5207T	p.S1736F	WVTNFLWDIMNYSVSAGLVVGIFIG	WVTNFLWDIMNYFVSAGLVVGIFIG	1.0	8.0	unscreened	-	3466_1:94481400-94481400 G>A_WVTNFLWDIMNYFVSAGLVVGIFIG
16:77918565-77918565 G>A	0.0	3466	MELANOMA	-	-	-	-	VAT1L	ENST00000302536,p.G315R|NM_020927,p.G315R|uc002ffg.1,p.G315R	protein_coding, processed_transcript	uc002ffg.1	nonsynonymous SNV	exon7	c.G943A	p.G315R	PIKLYEENKVIAGFSLLNLLFKQGR	PIKLYEENKVIARFSLLNLLFKQGR	1.0	8.0	unscreened	-	3466_16:77918565-77918565 G>A_PIKLYEENKVIARFSLLNLLFKQGR
20:61542375-61542375 G>A	1.0	3466	MELANOMA	-	-	-	-	DIDO1	ENST00000266070,p.P197L|ENST00000395343,p.P197L|NM_001193370,p.P197L|uc002ydr.2,p.P197L|ENST00000370368,p.P197L|NM_033081,p.P197L|ENST00000370366,p.P197L|NM_080797,p.P197L|ENST00000370371,p.P197L|uc002ydv.2,p.P197L|uc011aao.1,p.P197L|ENST00000266071,p.P197L|NM_001193369,p.P197L|uc002ydx.2,p.P197L|uc002ydw.2,p.P197L|uc002yds.2,p.P197L|NM_022105,p.P197L|ENST00000395340,p.P197L|uc002ydu.2,p.P197L|ENST00000395335,p.P197L|uc002ydt.2,p.P197L|NM_080796,p.P197L|ENST00000354665,p.P197L	protein_coding	uc011aao.1	nonsynonymous SNV	exon2	c.C590T	p.P197L	QSRLRKKRREEGPAETVGSEASDTV	QSRLRKKRREEGLAETVGSEASDTV	9.0	4.0	-	-	3466_20:61542375-61542375 G>A_QSRLRKKRREEGLAETVGSEASDTV
19:49671636-49671636 C>T	1.0	3466	MELANOMA	-	-	-	-	TRPM4	ENST00000595519,p.P71L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000595519	nonsynonymous SNV	exon3	c.C212T	p.P71L	HWGHQGGGHGCGPLGCGPE	HWGHQGGGHGCGLLGCGPE	6.0	7.0	unscreened	-	3466_19:49671636-49671636 C>T_HWGHQGGGHGCGLLGCGPE
16:50741788-50741788 C>T	0.0	3466	MELANOMA	-	-	-	-	NOD2	uc002egm.1,p.A188V|ENST00000300589,p.A188V|NM_001293557,p.A161V|NM_022162,p.A188V|uc010cbk.1,p.A161V	protein_coding, processed_transcript, nonsense_mediated_decay	uc010cbk.1	nonsynonymous SNV	exon3	c.C482T	p.A161V	TPSQRARRLLDLATVKANGLAAFLL	TPSQRARRLLDLVTVKANGLAAFLL	5.0	8.0	unscreened	-	3466_16:50741788-50741788 C>T_TPSQRARRLLDLVTVKANGLAAFLL
21:27852593-27852593 G>A	0.0	3466	MELANOMA	-	-	-	-	CYYR1	ENST00000400043,p.P111L	protein_coding	ENST00000400043	nonsynonymous SNV	exon3	c.C332T	p.P111L	LRTTHINTVSSYPEYELHEAEILVY	LRTTHINTVSSYLEYELHEAEILVY	4.0	1.0	unscreened	-	3466_21:27852593-27852593 G>A_LRTTHINTVSSYLEYELHEAEILVY
5:64510571-64510571 T>A	0.0	3466	MELANOMA	-	-	-	-	ADAMTS6	uc003jtr.1,p.K496N|ENST00000464680,p.K875N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jtr.1	nonsynonymous SNV	exon19	c.A1488T	p.K496N	TRQPTQRARWRTKHILSYALCLLKK	TRQPTQRARWRTNHILSYALCLLKK	4.0	9.0	unscreened	-	3466_5:64510571-64510571 T>A_TRQPTQRARWRTNHILSYALCLLKK
8:146278129-146278129 C>T	1.0	3466	MELANOMA	-	-	-	-	C8orf33	uc003zfc.4,p.S55F|ENST00000331434,p.S55F|NM_023080,p.S55F	retained_intron, protein_coding	uc003zfc.4	nonsynonymous SNV	exon2	c.C164T	p.S55F	LCPEQPTCSNADSRAHPLGDEGGTA	LCPEQPTCSNADFRAHPLGDEGGTA	6.0	1.0	-	-	3466_8:146278129-146278129 C>T_LCPEQPTCSNADFRAHPLGDEGGTA
X:31893463-31893463 C>T	0.0	3466	MELANOMA	-	-	-	-	DMD	uc004ddb.1,p.G2306R|NM_004012,p.G970R|NM_004009,p.G2310R|ENST00000378677,p.G2310R|NM_004010,p.G2191R|uc004dda.1,p.G2314R|uc004dcx.2,p.G973R|NM_000109,p.G2306R|ENST00000357033,p.G2314R|NM_004011,p.G973R|NM_004006,p.G2314R|uc004dcz.2,p.G2191R|uc004dcy.1,p.G2310R|uc004dcw.2,p.G970R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004ddb.1	nonsynonymous SNV	exon48	c.G6916A	p.G2306R	WIKVSRALPEKQGEIEAQIKDLGQL	WIKVSRALPEKQREIEAQIKDLGQL	10.0	9.0	unscreened	-	3466_X:31893463-31893463 C>T_WIKVSRALPEKQREIEAQIKDLGQL
9:125273304-125273304 C>T	0.0	3466	MELANOMA	-	-	-	-	OR1J2	uc004bmj.2,p.S75F|uc011lyv.2,p.S75F|ENST00000335302,p.S75F|NM_054107,p.S75F	protein_coding	uc011lyv.2	nonsynonymous SNV	exon1	c.C224T	p.S75F	LSHLALTDISFSSVTVPKMLMDMRT	LSHLALTDISFSFVTVPKMLMDMRT	1.0	9.0	unscreened	-	3466_9:125273304-125273304 C>T_LSHLALTDISFSFVTVPKMLMDMRT
3:142681638-142681638 T>G	0.0	3466	MELANOMA	-	-	-	-	PAQR9	ENST00000340634,p.S181R|uc003evg.3,p.S181R|NM_198504,p.S181R	protein_coding	uc003evg.3	nonsynonymous SNV	exon1	c.A541C	p.S181R	TVAYYYYLLPGLSLLDARVMTPYLQ	TVAYYYYLLPGLRLLDARVMTPYLQ	1.0	3.0	unscreened	-	3466_3:142681638-142681638 T>G_TVAYYYYLLPGLRLLDARVMTPYLQ
7:157369458-157369458 G>A	0.0	3466	MELANOMA	-	-	-	-	PTPRN2	ENST00000409483,p.S839F|NM_130842,p.S860F|ENST00000389418,p.S877F|uc003wnr.3,p.S839F|ENST00000389416,p.S860F|uc011kwa.2,p.S900F|NM_002847,p.S877F|uc003wnq.3,p.S848F|NM_130843,p.S848F|ENST00000404321,p.S900F|uc003wno.3,p.S877F|uc003wnp.3,p.S860F|ENST00000389413,p.S848F	protein_coding	uc011kwa.2	nonsynonymous SNV	exon19	c.C2699T	p.S900F	SNLYHIYEVNLVSEHIWCEDFLVRS	SNLYHIYEVNLVFEHIWCEDFLVRS	2.0	9.0	unscreened	-	3466_7:157369458-157369458 G>A_SNLYHIYEVNLVFEHIWCEDFLVRS
1:45155524-45155524 C>T	0.0	3466	MELANOMA	-	-	-	-	C1orf228	ENST00000453711,p.S52F|ENST00000535358,p.S52F|NM_001145636,p.S52F|ENST00000445071,p.S52F|ENST00000458657,p.S52F|uc001cmf.2,p.S52F|ENST00000418644,p.S52F|ENST00000441519,p.S52F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001cmf.2	nonsynonymous SNV	exon2	c.C155T	p.S52F	QGKTAPELEQEFSQGASLFLVRLTT	QGKTAPELEQEFFQGASLFLVRLTT	1.0	6.0	unscreened	-	3466_1:45155524-45155524 C>T_QGKTAPELEQEFFQGASLFLVRLTT
2:26534314-26534314 G>A	0.0	3466	MELANOMA	-	-	-	-	GPR113	uc002rhc.1,p.P364L|NM_001145169,p.P692L|ENST00000541401,p.P364L|NM_001145168,p.P761L|ENST00000421160,p.P692L|ENST00000311519,p.P761L|uc010yky.1,p.P692L|uc002rhb.1,p.P364L|uc010eyk.1,p.P562L|ENST00000333478,p.P562L|NM_153835,p.P562L|uc002rhe.4,p.P761L|ENST00000447444,p.P562L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010yky.1	nonsynonymous SNV	exon10	c.C2075T	p.P692L	CQHLTAFSVLMSPHTVPEEPALALL	CQHLTAFSVLMSLHTVPEEPALALL	2.0	6.0	unscreened	-	3466_2:26534314-26534314 G>A_CQHLTAFSVLMSLHTVPEEPALALL
5:24509751-24509751 G>A	0.0	3466	MELANOMA	-	-	-	2	CDH10	NM_006727,p.H394Y|ENST00000510477,p.H394Y|ENST00000264463,p.H394Y|uc003jgr.2,p.H394Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jgr.2	nonsynonymous SNV	exon7	c.C1180T	p.H394Y	PVFSRSSYLFEVHEDIEVGTIIGTV	PVFSRSSYLFEVYEDIEVGTIIGTV	1.0	8.0	unscreened	-	3466_5:24509751-24509751 G>A_PVFSRSSYLFEVYEDIEVGTIIGTV
19:12244556-12244556 T>C	0.0	3466	MELANOMA	-	-	-	-	ZNF20	uc021upm.1,p.K146E|uc002mtf.2,p.K149E|ENST00000334213,p.K149E|uc002mte.2,p.K114E|NM_021143,p.K149E|NM_001203250,p.K146E|uc002mtg.2,p.K149E|ENST00000418866,p.K146E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021upm.1	nonsynonymous SNV	exon4	c.A436G	p.K146E	EYGENPYRNKECKKAFSYLDSFQSH	EYGENPYRNKECEKAFSYLDSFQSH	1.0	8.0	unscreened	-	3466_19:12244556-12244556 T>C_EYGENPYRNKECEKAFSYLDSFQSH
8:110451201-110451201 G>A	0.0	3466	MELANOMA	-	-	-	-	PKHD1L1	ENST00000378402,p.G1279E|NM_177531,p.G1279E|uc003yne.3,p.G1279E	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon32	c.G3836A	p.G1279E	NELTQNMAVYVGGKTCQILHWNFTD	NELTQNMAVYVGEKTCQILHWNFTD	1.0	9.0	unscreened	-	3466_8:110451201-110451201 G>A_NELTQNMAVYVGEKTCQILHWNFTD
3:169099165-169099165 G>A	0.0	3466	MELANOMA	-	-	-	1	MECOM	uc010hwn.2,p.S62F|NM_004991,p.S62F|uc003ffl.2,p.S34F|uc011bpj.1,p.S62F|ENST00000494292,p.S62F|uc011bpl.1,p.S62F|ENST00000486748,p.S86F	retained_intron, protein_coding, processed_transcript	uc011bpl.1	nonsynonymous SNV	exon2	c.C185T	p.S62F	ATSSEAFTPKEGSPYKAPIYIPDDI	ATSSEAFTPKEGFPYKAPIYIPDDI	5.0	7.0	unscreened	-	3466_3:169099165-169099165 G>A_ATSSEAFTPKEGFPYKAPIYIPDDI
12:70206778-70206778 G>A	1.0	3466	MELANOMA	-	-	-	-	RAB3IP	NM_175623,p.R438Q|NM_022456,p.R422Q|uc001svp.3,p.R438Q|NM_001278402,p.R216Q|uc001svm.3,p.R422Q|ENST00000550437,p.R63Q|ENST00000325555,p.R216Q|ENST00000247833,p.R422Q|NM_001024647,p.R216Q|ENST00000551641,p.R216Q|ENST00000550847,p.R129Q|uc001svt.3,p.R216Q|ENST00000553099,p.R216Q|ENST00000550536,p.R438Q	 nonsense_mediated_decay,retained_intron, protein_coding	uc001svt.3	nonsynonymous SNV	exon8	c.G647A	p.R216Q	RITSVCNFFTYIRYIQQGLVKQQDV	RITSVCNFFTYIQYIQQGLVKQQDV	4.0	9.0	unscreened	-	3466_12:70206778-70206778 G>A_RITSVCNFFTYIQYIQQGLVKQQDV
1:15392258-15392258 C>T	1.0	3466	MELANOMA	-	-	-	-	KAZN	ENST00000503743,p.P411S|ENST00000422387,p.P411S|ENST00000400797,p.P317S|ENST00000361144,p.P405S|NM_015209,p.P411S|uc001avp.2,p.P317S|NM_001018000,p.P405S|NM_001018001,p.P317S|uc001avo.2,p.P405S|uc009vog.1,p.P411S|uc001avq.2,p.P317S|ENST00000400798,p.P317S|NM_001017999,p.P317S	retained_intron, protein_coding	uc009vog.1	nonsynonymous SNV	exon8	c.C1231T	p.P411S	KSLDPGLFDGTAPDYYIEEDADW	KSLDPGLFDGTASDYYIEEDADW	2.0	4.0	unscreened	-	3466_1:15392258-15392258 C>T_KSLDPGLFDGTASDYYIEEDADW
17:78162219-78162219 C>T	0.0	3466	MELANOMA	-	-	-	-	CARD14	NM_024110,p.S240F|ENST00000344227,p.S240F|uc002jxv.3,p.S240F|NM_001257970,p.S240F|ENST00000575500,p.S240F|uc010dhu.1,p.S38F|uc031res.1,p.S240F|ENST00000570421,p.S240F|uc031rer.1,p.S240F|ENST00000573882,p.S240F|uc002jxw.2,p.S240F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031res.1	nonsynonymous SNV	exon5	c.C719T	p.S240F	LLKQELQRANMVSSCELELQEQSLR	LLKQELQRANMVFSCELELQEQSLR	1.0	9.0	unscreened	-	3466_17:78162219-78162219 C>T_LLKQELQRANMVFSCELELQEQSLR
4:71275451-71275451 C>T	0.0	3466	MELANOMA	-	-	-	-	PROL1	ENST00000399575,p.P136S|NM_021225,p.P136S|uc003hfi.3,p.P136S	protein_coding, processed_transcript	uc003hfi.3	nonsynonymous SNV	exon3	c.C406T	p.P136S	FPPIPFFLAIYLPISNPEPQINITT	FPPIPFFLAIYLSISNPEPQINITT	1.0	4.0	unscreened	-	3466_4:71275451-71275451 C>T_FPPIPFFLAIYLSISNPEPQINITT
6:36172572-36172572 C>T	1.0	3466	MELANOMA	-	-	-	-	BRPF3	ENST00000357641,p.S529F|ENST00000543502,p.S529F|ENST00000532330,p.S529F|ENST00000449261,p.S529F|uc010jwb.3,p.S529F|ENST00000339717,p.S529F|ENST00000527657,p.S75F|uc011dtk.2,p.S529F|ENST00000534400,p.S529F|ENST00000534694,p.S529F|NM_015695,p.S529F|ENST00000443324,p.S529F|uc003olv.4,p.S529F	retained_intron, protein_coding, nonsense_mediated_decay	uc011dtk.2	nonsynonymous SNV	exon2	c.C1586T	p.S529F	VPLIRRLHSHLQSQRNAEQREQDEK	VPLIRRLHSHLQFQRNAEQREQDEK	9.0	8.0	unscreened	-	3466_6:36172572-36172572 C>T_VPLIRRLHSHLQFQRNAEQREQDEK
1:204128653-204128653 G>A	0.0	3466	MELANOMA	-	-	-	-	REN	ENST00000272190,p.A188V|ENST00000367195,p.A188V|uc001haq.2,p.A188V|NM_000537,p.A188V	protein_coding	uc001haq.2	nonsynonymous SNV	exon5	c.C563T	p.A188V	EVTEMPALPFMLAEFDGVVGMGFIE	EVTEMPALPFMLVEFDGVVGMGFIE	1.0	8.0	unscreened	-	3466_1:204128653-204128653 G>A_EVTEMPALPFMLVEFDGVVGMGFIE
2:29375616-29375616 C>T	1.0	3466	MELANOMA	-	-	-	-	CLIP4	uc002rmu.3,p.P363S|ENST00000401617,p.P256S|uc010ymn.1,p.P345S|ENST00000404424,p.P363S|ENST00000401605,p.P363S|NM_001287528,p.P363S|NM_001287527,p.P363S|ENST00000415891,p.P363S|uc010ezm.1,p.P363S|ENST00000320081,p.P363S|NM_024692,p.P363S|uc002rmv.3,p.P363S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ymn.1	nonsynonymous SNV	exon8	c.C1033T	p.P345S	KAKGRRKNITHTPSTKAAVPLIRSQ	KAKGRRKNITHTSSTKAAVPLIRSQ	8.0	3.0	-	-	3466_2:29375616-29375616 C>T_KAKGRRKNITHTSSTKAAVPLIRSQ
12:54925581-54925581 G>A	0.0	3466	MELANOMA	-	-	-	-	NCKAP1L	ENST00000545638,p.R868K|NM_005337,p.R918K|uc010sox.2,p.R460K|ENST00000293373,p.R918K|uc001sgc.4,p.R918K|uc010soy.2,p.R868K|NM_001184976,p.R868K	retained_intron, protein_coding, nonsense_mediated_decay	uc010soy.2	nonsynonymous SNV	exon25	c.G2603A	p.R868K	KRMTIIGVILSFRAMAQEGLREVFS	KRMTIIGVILSFKAMAQEGLREVFS	7.0	9.0	unscreened	-	3466_12:54925581-54925581 G>A_KRMTIIGVILSFKAMAQEGLREVFS
2:84915666-84915666 C>T	0.0	3466	MELANOMA	-	-	-	-	DNAH6	ENST00000398278,p.P2365L|ENST00000602588,p.P386L|NM_001370,p.P2414L|ENST00000389394,p.P2414L|uc002sor.3,p.P386L|uc010fgb.3,p.P2414L|ENST00000237449,p.P2414L	retained_intron, protein_coding, processed_transcript	uc010fgb.3	nonsynonymous SNV	exon45	c.C7241T	p.P2414L	LQDYLDDYNLTNPKEVKLVFFQDAI	LQDYLDDYNLTNLKEVKLVFFQDAI	1.0	6.0	unscreened	-	3466_2:84915666-84915666 C>T_LQDYLDDYNLTNLKEVKLVFFQDAI
19:11408911-11408911 C>T	0.0	3466	MELANOMA	-	-	-	-	TSPAN16	NM_001282510,p.L55F|ENST00000316737,p.L55F|uc002mqv.1,p.L55F|ENST00000337994,p.L55F|ENST00000592955,p.L55F|NM_012466,p.L55F|NM_001282509,p.L55F|ENST00000590327,p.L55F	protein_coding, nonsense_mediated_decay	uc002mqv.1	nonsynonymous SNV	exon2	c.C163T	p.L55F	LTNVLGLSSAYLLHVGNLCLVMGCI	LTNVLGLSSAYLFHVGNLCLVMGCI	1.0	6.0	unscreened	-	3466_19:11408911-11408911 C>T_LTNVLGLSSAYLFHVGNLCLVMGCI
1:190250704-190250704 G>A	0.0	3466	MELANOMA	-	-	-	-	BRINP3	ENST00000367462,p.S138F|uc001gse.1,p.S138F|NM_199051,p.S138F	protein_coding, processed_transcript	uc001gse.1	nonsynonymous SNV	exon3	c.C413T	p.S138F	NLIKKYGTHFLLSATLGGEESLTIF	NLIKKYGTHFLLFATLGGEESLTIF	1.0	2.0	unscreened	-	3466_1:190250704-190250704 G>A_NLIKKYGTHFLLFATLGGEESLTIF
16:49313376-49313376 C>T	0.0	3466	MELANOMA	-	-	-	-	CBLN1	ENST00000536749,p.G174E|NM_004352,p.G174E|uc002efq.3,p.G174E|ENST00000219197,p.G174E	protein_coding, nonsense_mediated_decay	uc002efq.3	nonsynonymous SNV	exon3	c.G521A	p.G174E	EKGDRAYLKLERGNLMGGWKYSTFS	EKGDRAYLKLERENLMGGWKYSTFS	1.0	7.0	unscreened	-	3466_16:49313376-49313376 C>T_EKGDRAYLKLERENLMGGWKYSTFS
1:159272209-159272209 G>A	0.0	3466	MELANOMA	-	-	-	-	FCER1A	ENST00000368114,p.A19T	protein_coding	ENST00000368114	nonsynonymous SNV	exon1	c.G55A	p.A19T	SPTLLCVALLFFAPDGVLAVSSTKW	SPTLLCVALLFFTPDGVLAVSSTKW	1.0	6.0	unscreened	-	3466_1:159272209-159272209 G>A_SPTLLCVALLFFTPDGVLAVSSTKW
17:4789469-4789469 C>A	1.0	3466	MELANOMA	-	-	-	-	MINK1	uc010vsk.2,p.P250Q|uc010vsn.2,p.P250Q|NM_153827,p.P250Q|ENST00000453408,p.P250Q|uc010vsl.2,p.P250Q|NM_170663,p.P250Q|ENST00000347992,p.P250Q|NM_001024937,p.P250Q|uc010vso.2,p.P195Q|NM_015716,p.P250Q|ENST00000355280,p.P250Q|uc010vsm.2,p.P250Q	retained_intron, protein_coding, nonsense_mediated_decay	uc010vso.2	nonsynonymous SNV	exon10	c.C584A	p.P195Q	PMRALFLIPRNPPPRLKSKKWSKKF	PMRALFLIPRNPQPRLKSKKWSKKF	9.0	9.0	unscreened	-	3466_17:4789469-4789469 C>A_PMRALFLIPRNPQPRLKSKKWSKKF
14:77492559-77492559 G>A	1.0	3466	MELANOMA	-	-	-	-	IRF2BPL	NM_024496,p.A526V|ENST00000238647,p.A526V|uc001xsy.4,p.A526V	protein_coding	uc001xsy.4	nonsynonymous SNV	exon1	c.C1577T	p.A526V	LSRAPSAPPGTGALPPAAPSGRGAA	LSRAPSAPPGTGVLPPAAPSGRGAA	7.0	8.0	-	-	3466_14:77492559-77492559 G>A_LSRAPSAPPGTGVLPPAAPSGRGAA
1:26524455-26524455 C>T	0.0	3466	MELANOMA	-	-	ID=COSM225948;OCCURENCE=1(skin),1(NS),1(upper_aerodigestive_tract)	-	CATSPER4	ENST00000456354,p.R189C|ENST00000338855,p.R189C|ENST00000518899,p.R189C|NM_198137,p.R189C|uc010oez.2,p.R189C	protein_coding, nonsense_mediated_decay	uc010oez.2	nonsynonymous SNV	exon5	c.C565T	p.R189C	NIPSINYTLRALRLVHVCMAVEPLA	NIPSINYTLRALCLVHVCMAVEPLA	1.0	1.0	unscreened	-	3466_1:26524455-26524455 C>T_NIPSINYTLRALCLVHVCMAVEPLA
18:67812883-67812883 G>A	0.0	3466	MELANOMA	-	-	-	-	RTTN	ENST00000454359,p.L816F|uc002lkp.2,p.L816F|ENST00000583043,p.L606F|NM_173630,p.L816F|ENST00000437017,p.L816F|ENST00000255674,p.L816F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lkp.2	nonsynonymous SNV	exon18	c.C2446T	p.L816F	VTDLFIGKKPIELRLDDRRELVIKL	VTDLFIGKKPIEFRLDDRRELVIKL	8.0	5.0	unscreened	-	3466_18:67812883-67812883 G>A_VTDLFIGKKPIEFRLDDRRELVIKL
3:97167437-97167437 C>T	0.0	3466	MELANOMA	-	-	-	-	EPHA6	uc010how.1,p.S586F|NM_001080448,p.S586F|ENST00000389672,p.S586F	protein_coding, nonsense_mediated_decay	uc010how.1	nonsynonymous SNV	exon7	c.C1757T	p.S586F	YYEKEHEQLTYSSTRSKAPSVIITG	YYEKEHEQLTYSFTRSKAPSVIITG	1.0	8.0	unscreened	-	3466_3:97167437-97167437 C>T_YYEKEHEQLTYSFTRSKAPSVIITG
9:125391445-125391445 G>A	0.0	3466	MELANOMA	0.0005	-	ID=COSM1643725;OCCURENCE=1(skin),1(stomach)	-	OR1B1	NM_001004450,p.R124C|uc011lyz.2,p.R124C|ENST00000304833,p.R124C	protein_coding	uc011lyz.2	nonsynonymous SNV	exon1	c.C370T	p.R124C	TDTLVIAVMALDRYVAICDPLHYAL	TDTLVIAVMALDCYVAICDPLHYAL	1.0	9.0	unscreened	-	3466_9:125391445-125391445 G>A_TDTLVIAVMALDCYVAICDPLHYAL
1:248343574-248343574 G>A	0.0	3466	MELANOMA	-	-	-	-	OR2M2	NM_001004688,p.G96D|uc010pzf.2,p.G96D|ENST00000359682,p.G96D	protein_coding	uc010pzf.2	nonsynonymous SNV	exon1	c.G287A	p.G96D	NYLSGSKSISMAGCVTQIFFYISLS	NYLSGSKSISMADCVTQIFFYISLS	1.0	8.0	unscreened	-	3466_1:248343574-248343574 G>A_NYLSGSKSISMADCVTQIFFYISLS
8:105459659-105459659 C>T	0.0	3466	MELANOMA	-	-	-	-	DPYS	uc003yly.4,p.D166N|ENST00000521573,p.D113N|ENST00000351513,p.D166N|NM_001385,p.D166N	retained_intron, protein_coding, processed_transcript	uc003yly.4	nonsynonymous SNV	exon3	c.G496A	p.D166N	GVNSFKMFMAYKDLYMVTDLELYEA	GVNSFKMFMAYKNLYMVTDLELYEA	1.0	8.0	unscreened	-	3466_8:105459659-105459659 C>T_GVNSFKMFMAYKNLYMVTDLELYEA
8:2020445-2020445 C>T	0.0	3466	MELANOMA	-	-	-	-	MYOM2	ENST00000262113,p.P272S|uc003wpx.4,p.P272S|NM_003970,p.P272S	retained_intron, protein_coding, processed_transcript	uc003wpx.4	nonsynonymous SNV	exon9	c.C814T	p.P272S	GLPIGLPLSSMIPYTHFDVQFLEKF	GLPIGLPLSSMISYTHFDVQFLEKF	3.0	1.0	unscreened	-	3466_8:2020445-2020445 C>T_GLPIGLPLSSMISYTHFDVQFLEKF
1:40218960-40218960 C>T	1.0	3466	MELANOMA	-	-	-	-	PPIE	uc001cdx.2,p.A196V|NM_006112,p.A280V|uc001cds.2,p.A280V|ENST00000324379,p.A280V|uc010oiy.2,p.A201V|ENST00000372835,p.A229V|uc001cdt.2,p.A214V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010oiy.2	nonsynonymous SNV	exon10	c.C602T	p.A201V	VTEGLDVLRQIEAQGSKDGKPKQKV	VTEGLDVLRQIEVQGSKDGKPKQKV	8.0	6.0	-	-	3466_1:40218960-40218960 C>T_VTEGLDVLRQIEVQGSKDGKPKQKV
19:19656716-19656716 C>T	0.0	3466	MELANOMA	-	-	-	-	CILP2	uc002nmv.4,p.S1121F|ENST00000291495,p.S1121F|ENST00000586018,p.S1127F|NM_153221,p.S1121F|uc002nmw.4,p.S1127F	retained_intron, protein_coding	uc002nmw.4	nonsynonymous SNV	exon8	c.C3380T	p.S1127F	AGRPSLFQRLLESPATALGDIRREM	AGRPSLFQRLLEFPATALGDIRREM	2.0	6.0	unscreened	-	3466_19:19656716-19656716 C>T_AGRPSLFQRLLEFPATALGDIRREM
2:26410908-26410908 C>T	1.0	3466	MELANOMA	-	-	-	-	GAREML	ENST00000407684,p.P593S|ENST00000401533,p.P803S|NM_001191033,p.P593S|uc002rgx.2,p.P593S|NM_001168241,p.P803S|uc002rgw.2,p.P803S	protein_coding, processed_transcript	uc002rgx.2	nonsynonymous SNV	exon6	c.C1777T	p.P593S	GFGVRDASSWQPPADLSALSLEEVS	GFGVRDASSWQPSADLSALSLEEVS	4.0	5.0	unscreened	-	3466_2:26410908-26410908 C>T_GFGVRDASSWQPSADLSALSLEEVS
21:44108035-44108035 C>T	0.0	3466	MELANOMA	-	-	-	-	PDE9A	ENST00000398225,p.T9I|ENST00000398234,p.T9I|NM_001001571,p.T9I|uc002zbu.3,p.T9I|NM_001001582,p.T9I|uc002zca.3,p.T9I|ENST00000398229,p.T9I|uc002zcc.3,p.T9I|NM_001001577,p.T9I	retained_intron, protein_coding, processed_transcript	uc002zcc.3	nonsynonymous SNV	exon2	c.C26T	p.T9I	MDAFRRNTTISLLTTDDAMVS	MDAFRRNTIISLLTTDDAMVS	2.0	8.0	unscreened	-	3466_21:44108035-44108035 C>T_MDAFRRNTIISLLTTDDAMVS
16:67778313-67778313 G>A	1.0	3466	MELANOMA	-	-	-	-	RANBP10	uc010vjx.1,p.S149L|uc010vjv.2,p.S32L|ENST00000602677,p.S149L|uc002eud.3,p.S149L|NM_020850,p.S149L|ENST00000411657,p.S32L|ENST00000425512,p.S17L|ENST00000317506,p.S149L|uc010vjy.1,p.S17L	protein_coding	uc010vjy.1	nonsynonymous SNV	exon3	c.C50T	p.S17L	KHSYGYHGDDGHSFCSSGTGQPYGP	KHSYGYHGDDGHLFCSSGTGQPYGP	5.0	2.0	-	-	3466_16:67778313-67778313 G>A_KHSYGYHGDDGHLFCSSGTGQPYGP
17:10265730-10265730 C>T	0.0	3466	MELANOMA	-	-	-	-	MYH13	ENST00000252172,p.E99K|ENST00000570743,p.E99K|ENST00000418404,p.E99K|NM_003802,p.E99K|uc002gmk.1,p.E99K	protein_coding	uc002gmk.1	nonsynonymous SNV	exon4	c.G295A	p.E99K	KIEDMAMMTHLHEPAVLYNLKERYA	KIEDMAMMTHLHKPAVLYNLKERYA	1.0	9.0	unscreened	-	3466_17:10265730-10265730 C>T_KIEDMAMMTHLHKPAVLYNLKERYA
7:128485246-128485246 C>T	1.0	3466	MELANOMA	-	-	-	-	FLNC	NM_001458,p.H1243Y|ENST00000346177,p.H1243Y|uc003vnz.4,p.H1243Y|NM_001127487,p.H1243Y|uc003voa.4,p.H1243Y|ENST00000325888,p.H1243Y	retained_intron, protein_coding	uc003voa.4	nonsynonymous SNV	exon21	c.C3727T	p.H1243Y	GGHPVPKFPTRVHVQPAVDTSGVKV	GGHPVPKFPTRVYVQPAVDTSGVKV	3.0	9.0	-	-	3466_7:128485246-128485246 C>T_GGHPVPKFPTRVYVQPAVDTSGVKV
19:52954446-52954446 C>T	0.0	3466	MELANOMA	-	-	-	-	ZNF534	ENST00000432303,p.S50L|uc010epo.1,p.S50L|NM_001291369,p.S50L	protein_coding	uc010epo.1	nonsynonymous SNV	exon3	c.C149T	p.S50L	LENYRNLVSLDFSLLAWDARVFRVE	LENYRNLVSLDFLLLAWDARVFRVE	1.0	7.0	unscreened	-	3466_19:52954446-52954446 C>T_LENYRNLVSLDFLLLAWDARVFRVE
3:169566058-169566058 G>A	0.0	3466	MELANOMA	-	-	-	-	LRRC31	uc003fgc.2,p.L393F|ENST00000523069,p.L393F|NM_024727,p.L393F|ENST00000316428,p.L393F|NM_001277127,p.L393F|uc010hwp.2,p.L337F|uc031scf.1,p.L393F|ENST00000264676,p.L337F|NM_001277128,p.L337F	protein_coding, processed_transcript	uc031scf.1	nonsynonymous SNV	exon8	c.C1177T	p.L393F	ETFTALAEASVHLSALEVFNLSWNK	ETFTALAEASVHFSALEVFNLSWNK	1.0	2.0	unscreened	-	3466_3:169566058-169566058 G>A_ETFTALAEASVHFSALEVFNLSWNK
12:129180452-129180452 C>T	0.0	3466	MELANOMA	-	-	-	-	TMEM132C	ENST00000315208,p.T194I|NM_001136103,p.T578I|ENST00000435159,p.T578I|uc021rgn.1,p.T578I	protein_coding	uc021rgn.1	nonsynonymous SNV	exon7	c.C1733T	p.T578I	RGRGCALQYQHATVRVLTQFVSEGA	RGRGCALQYQHAIVRVLTQFVSEGA	1.0	9.0	unscreened	-	3466_12:129180452-129180452 C>T_RGRGCALQYQHAIVRVLTQFVSEGA
12:77417923-77417923 G>A	1.0	3466	MELANOMA	-	-	-	-	E2F7	uc001sym.4,p.R870C|ENST00000322886,p.R870C|NM_203394,p.R870C	retained_intron, protein_coding, nonsense_mediated_decay	uc001sym.4	nonsynonymous SNV	exon13	c.C2608T	p.R870C	VPVTPKSIQRTHRETFFKTPGSLGD	VPVTPKSIQRTHCETFFKTPGSLGD	6.0	9.0	-	-	3466_12:77417923-77417923 G>A_VPVTPKSIQRTHCETFFKTPGSLGD
19:52954446-52954446 C>T	0.0	3466	MELANOMA	-	-	-	-	ZNF534	NM_001291368,p.S93L|ENST00000301085,p.S93L|uc002pzj.1,p.S93L	protein_coding	uc002pzj.1	nonsynonymous SNV	exon5	c.C278T	p.S93L	GRECIKGVNTDFSLLAWDARVFRVE	GRECIKGVNTDFLLLAWDARVFRVE	1.0	7.0	unscreened	-	3466_19:52954446-52954446 C>T_GRECIKGVNTDFLLLAWDARVFRVE
8:95444769-95444769 G>A	1.0	3466	MELANOMA	-	-	-	-	FSBP	NM_001256141,p.P164S|uc003ygm.3,p.P164S|ENST00000481490,p.P164S	protein_coding, nonsense_mediated_decay	uc003ygm.3	nonsynonymous SNV	exon2	c.C490T	p.P164S	VEVKQEEDIKPPPPLVLNSQQSDTL	VEVKQEEDIKPPSPLVLNSQQSDTL	7.0	1.0	-	-	3466_8:95444769-95444769 G>A_VEVKQEEDIKPPSPLVLNSQQSDTL
13:111315839-111315839 C>G	1.0	3466	MELANOMA	-	-	-	-	CARS2	ENST00000257347,p.E316Q|uc001vrd.2,p.E316Q|NM_024537,p.E316Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001vrd.2	nonsynonymous SNV	exon9	c.G946C	p.E316Q	LHSGHLHAKGKEEKMSKSLKNYITI	LHSGHLHAKGKEQKMSKSLKNYITI	8.0	9.0	-	-	3466_13:111315839-111315839 C>G_LHSGHLHAKGKEQKMSKSLKNYITI
1:94481400-94481400 G>A	0.0	3466	MELANOMA	-	-	-	-	ABCA4	ENST00000536513,p.S6F	protein_coding, processed_transcript	ENST00000536513	nonsynonymous SNV	exon2	c.C17T	p.S6F	MMMNYSVSAGLVVGIFIG	MMMNYFVSAGLVVGIFIG	1.0	8.0	unscreened	-	3466_1:94481400-94481400 G>A_MMMNYFVSAGLVVGIFIG
15:40241380-40241380 C>T	1.0	3466	MELANOMA	-	-	-	-	EIF2AK4	ENST00000263791,p.P142S|uc001zkl.3,p.P142S|ENST00000559624,p.P142S|ENST00000382727,p.P142S|NM_001013703,p.P142S|uc001zkm.1,p.P142S	retained_intron, protein_coding, processed_transcript, TEC	uc001zkm.1	nonsynonymous SNV	exon4	c.C424T	p.P142S	VQSFLSEHNKPPPKSFHEEMLERRA	VQSFLSEHNKPPSKSFHEEMLERRA	8.0	2.0	-	-	3466_15:40241380-40241380 C>T_VQSFLSEHNKPPSKSFHEEMLERRA
19:17741509-17741509 G>A	0.0	3466	MELANOMA	-	-	-	-	UNC13A	ENST00000550896,p.S1158F|ENST00000519716,p.S1160F|uc031rjw.1,p.S1160F|NM_001080421,p.S1160F|ENST00000252773,p.S1160F|ENST00000551649,p.S1160F|ENST00000552293,p.S1160F|ENST00000428389,p.S1248F	retained_intron, protein_coding	uc031rjw.1	nonsynonymous SNV	exon29	c.C3479T	p.S1160F	FVIQWLDENEEVSRDFLHGALERDK	FVIQWLDENEEVFRDFLHGALERDK	1.0	2.0	unscreened	-	3466_19:17741509-17741509 G>A_FVIQWLDENEEVFRDFLHGALERDK
3:29938883-29938883 C>T	1.0	3466	MELANOMA	-	-	-	-	RBMS3	ENST00000396583,p.P282S|NM_014483,p.P269S|ENST00000456853,p.P282S|uc010hfq.3,p.P282S|NM_001177712,p.P282S|ENST00000273139,p.P269S|ENST00000434693,p.P268S|uc003cem.3,p.P268S|ENST00000383767,p.P269S|NM_001003793,p.P269S|uc003cel.3,p.P269S|uc003cek.3,p.P269S|uc010hfr.3,p.P269S|NM_001003792,p.P268S|ENST00000383766,p.P268S|NM_001177711,p.P269S|ENST00000452462,p.P269S	retained_intron, protein_coding, processed_transcript	uc010hfr.3	nonsynonymous SNV	exon9	c.C805T	p.P269S	PTAAIQNGFYSSPYSIATNRMIPQT	PTAAIQNGFYSSSYSIATNRMIPQT	9.0	3.0	unscreened	-	3466_3:29938883-29938883 C>T_PTAAIQNGFYSSSYSIATNRMIPQT
11:5444067-5444067 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1703454;OCCURENCE=1(skin)	-	OR51Q1	ENST00000300778,p.P213S|uc010qzd.2,p.P213S|NM_001004757,p.P213S	protein_coding	uc010qzd.2	nonsynonymous SNV	exon1	c.C637T	p.P213S	GFALALLIIIMDPLLIVISYTLILK	GFALALLIIIMDSLLIVISYTLILK	1.0	1.0	unscreened	Snp within 36 nucleotides, 11:5444061-5444061 G>A, residue 11 V>M PR	3466_11:5444067-5444067 C>T_GFALALLIIIMDSLLIVISYTLILK
12:124824639-124824639 G>A	1.0	3466	MELANOMA	-	-	-	1	NCOR2	NM_001077261,p.A1857V|uc010tbc.2,p.A1857V|ENST00000397355,p.A1858V|ENST00000356219,p.A1874V|ENST00000404621,p.A1857V|uc021rgc.1,p.A1857V|NM_001206654,p.A1857V|ENST00000429285,p.A1857V|uc010tba.2,p.A1875V|ENST00000404121,p.A1428V|NM_006312,p.A1867V|ENST00000405201,p.A1867V|uc010tbb.2,p.A1867V	retained_intron, protein_coding	uc021rgc.1	nonsynonymous SNV	exon38	c.C5570T	p.A1857V	HQHSPISPRTQDALQQRPSVLHNTG	HQHSPISPRTQDVLQQRPSVLHNTG	9.0	9.0	-	-	3466_12:124824639-124824639 G>A_HQHSPISPRTQDVLQQRPSVLHNTG
11:113270186-113270186 C>T	0.0	3466	MELANOMA	-	-	-	-	ANKK1	uc001pny.3,p.H499Y|ENST00000303941,p.H499Y|NM_178510,p.H499Y	protein_coding, nonsense_mediated_decay	uc001pny.3	nonsynonymous SNV	exon8	c.C1495T	p.H499Y	PNLREAEGKTPLHVAAYFGHVSLVK	PNLREAEGKTPLYVAAYFGHVSLVK	1.0	3.0	unscreened	Snp within 36 nucleotides, 11:113270160-113270160 A>G, residue 4 H>R PR	3466_11:113270186-113270186 C>T_PNLREAEGKTPLYVAAYFGHVSLVK
20:42265791-42265791 C>T	1.0	3466	MELANOMA	-	-	-	-	IFT52	ENST00000373030,p.P340S|uc002xkw.3,p.P340S|uc002xkz.3,p.P340S|NM_016004,p.P340S|ENST00000373039,p.P340S	protein_coding, processed_transcript	uc002xkz.3	nonsynonymous SNV	exon12	c.C1018T	p.P340S	ETPLPTLQPAVFPPSFRELPPPPLE	ETPLPTLQPAVFSPSFRELPPPPLE	7.0	5.0	-	-	3466_20:42265791-42265791 C>T_ETPLPTLQPAVFSPSFRELPPPPLE
6:28269048-28269048 C>T	1.0	3466	MELANOMA	-	-	-	-	PGBD1	ENST00000405948,p.P473S|NM_001184743,p.P473S|ENST00000259883,p.P473S|uc003nky.3,p.P473S|uc003nkz.3,p.P473S|NM_032507,p.P473S	protein_coding	uc003nkz.3	nonsynonymous SNV	exon7	c.C1417T	p.P473S	FGVLLLSGFMRHPRREMYWEVSDTD	FGVLLLSGFMRHSRREMYWEVSDTD	6.0	9.0	unscreened	-	3466_6:28269048-28269048 C>T_FGVLLLSGFMRHSRREMYWEVSDTD
6:28540568-28540568 G>A	0.0	3466	MELANOMA	-	-	-	-	ZBED9	NM_052923,p.S1033L|ENST00000452236,p.S1033L|uc003nlo.3,p.S1033L	protein_coding, processed_transcript	uc003nlo.3	nonsynonymous SNV	exon4	c.C3098T	p.S1033L	DIVKIVNYIKSNSLNSRLFSLLCDN	DIVKIVNYIKSNLLNSRLFSLLCDN	1.0	8.0	unscreened	-	3466_6:28540568-28540568 G>A_DIVKIVNYIKSNLLNSRLFSLLCDN
19:50498145-50498145 G>A	1.0	3466	MELANOMA	-	-	-	-	VRK3	ENST00000596814,p.P165L|ENST00000596121,p.P215L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000596814	nonsynonymous SNV	exon6	c.C494T	p.P165L	KLVLGVTQPGEEPSVGPGCQPKACA	KLVLGVTQPGEELSVGPGCQPKACA	7.0	8.0	unscreened	-	3466_19:50498145-50498145 G>A_KLVLGVTQPGEELSVGPGCQPKACA
14:22038823-22038823 G>A	0.0	3466	MELANOMA	0	-	ID=COSM1707149;OCCURENCE=1(skin)	-	OR10G3	ENST00000303532,p.P18L|uc010tmb.2,p.P18L|NM_001005465,p.P18L	protein_coding	uc010tmb.2	nonsynonymous SNV	exon1	c.C53T	p.P18L	STLLTAFILTGIPYPLRLRTLFFVF	STLLTAFILTGILYPLRLRTLFFVF	1.0	6.0	unscreened	-	3466_14:22038823-22038823 G>A_STLLTAFILTGILYPLRLRTLFFVF
14:70634865-70634865 G>A	0.0	3466	MELANOMA	-	-	-	-	SLC8A3	uc001xlw.3,p.S92F|NM_183002,p.S92F|ENST00000534137,p.S92F|NM_033262,p.S92F|ENST00000357887,p.S92F|uc001xlz.3,p.S92F|NM_058240,p.S92F|uc001xlx.3,p.S92F|ENST00000528359,p.S92F|ENST00000494208,p.S92F|ENST00000381269,p.S92F|uc001xly.3,p.S92F|ENST00000356921,p.S92F|NM_182932,p.S92F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001xlz.3	nonsynonymous SNV	exon2	c.C275T	p.S92F	YFVALIYMFLGVSIIADRFMASIEV	YFVALIYMFLGVFIIADRFMASIEV	1.0	4.0	unscreened	-	3466_14:70634865-70634865 G>A_YFVALIYMFLGVFIIADRFMASIEV
14:101347621-101347621 C>T	0.0	3466	MELANOMA	-	-	-	-	RTL1	uc010txj.1,p.G1169S|NM_001134888,p.G1169S|ENST00000534062,p.G1169S	protein_coding	uc010txj.1	nonsynonymous SNV	exon1	c.G3505A	p.G1169S	TIPAQELAELFLGPGRWQRNALHSQ	TIPAQELAELFLSPGRWQRNALHSQ	1.0	9.0	unscreened	-	3466_14:101347621-101347621 C>T_TIPAQELAELFLSPGRWQRNALHSQ
3:50405615-50405615 T>A	0.0	3466	MELANOMA	-	-	-	-	CACNA2D2	ENST00000479441,p.K706N|ENST00000266039,p.K699N|NM_001291101,p.K630N|ENST00000424201,p.K699N|ENST00000435965,p.K706N|NM_006030,p.K699N|uc003daq.3,p.K706N|uc003dap.3,p.K699N|ENST00000429770,p.K699N|NM_001005505,p.K699N|NM_001174051,p.K706N|ENST00000360963,p.K630N|ENST00000395083,p.K699N|ENST00000423994,p.K706N	retained_intron, protein_coding, processed_transcript	uc003daq.3	nonsynonymous SNV	exon25	c.A2118T	p.K706N	DLNASDNNTEFLKNFIELMEKVTPD	DLNASDNNTEFLNNFIELMEKVTPD	1.0	3.0	unscreened	-	3466_3:50405615-50405615 T>A_DLNASDNNTEFLNNFIELMEKVTPD
12:47181798-47181798 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1705499;OCCURENCE=1(skin)	-	SLC38A4	uc001rpj.2,p.S76F|NM_018018,p.S76F|uc001rpi.2,p.S76F|ENST00000546940,p.S76F|ENST00000447411,p.S76F|NM_001143824,p.S76F|uc009zkl.2,p.S76F|ENST00000266579,p.S76F|ENST00000547477,p.S76F	protein_coding	uc009zkl.2	nonsynonymous SNV	exon5	c.C227T	p.S76F	ADYADEHHPGTTSFGMSSFNLSNAI	ADYADEHHPGTTFFGMSSFNLSNAI	1.0	9.0	unscreened	-	3466_12:47181798-47181798 G>A_ADYADEHHPGTTFFGMSSFNLSNAI
2:170070313-170070313 C>T	0.0	3466	MELANOMA	-	-	-	-	LRP2	NM_004525,p.G1965E|uc002ues.3,p.G1965E|ENST00000263816,p.G1965E	retained_intron, protein_coding, processed_transcript	uc002ues.3	nonsynonymous SNV	exon36	c.G5894A	p.G1965E	RMILVHQLSHPWGIAVHDSFLYYTD	RMILVHQLSHPWEIAVHDSFLYYTD	1.0	2.0	unscreened	-	3466_2:170070313-170070313 C>T_RMILVHQLSHPWEIAVHDSFLYYTD
2:230910589-230910589 G>A	0.0	3466	MELANOMA	-	-	-	-	SLC16A14	uc002vqe.3,p.S418F|NM_152527,p.S418F|ENST00000457406,p.S418F|ENST00000412034,p.S418F|uc002vqf.3,p.S418F|uc002vqd.2,p.S418F|ENST00000295190,p.S418F	protein_coding	uc002vqf.3	nonsynonymous SNV	exon4	c.C1253T	p.S418F	AGLAVICALIGFSSGYFSLMPVVTE	AGLAVICALIGFFSGYFSLMPVVTE	4.0	1.0	unscreened	-	3466_2:230910589-230910589 G>A_AGLAVICALIGFFSGYFSLMPVVTE
14:61186930-61186930 C>T	1.0	3466	MELANOMA	-	-	-	-	SIX4	ENST00000216513,p.G366E|ENST00000556952,p.G358E|NM_017420,p.G366E|uc001xfc.3,p.G366E|uc010app.1,p.G358E	protein_coding	uc010app.1	nonsynonymous SNV	exon3	c.G1073A	p.G358E	LVPASTSPVFLNGNSFIQGPSGVIL	LVPASTSPVFLNENSFIQGPSGVIL	4.0	6.0	unscreened	-	3466_14:61186930-61186930 C>T_LVPASTSPVFLNENSFIQGPSGVIL
2:84913631-84913631 G>A	0.0	3466	MELANOMA	-	-	-	-	DNAH6	uc002sor.3,p.D335N|ENST00000398278,p.D2314N|ENST00000602588,p.D335N	retained_intron, protein_coding, processed_transcript	uc002sor.3	nonsynonymous SNV	exon8	c.G1003A	p.D335N	KCVQDKHFGIAIDLEYFLNKPIIFG	KCVQDKHFGIAINLEYFLNKPIIFG	1.0	3.0	unscreened	-	3466_2:84913631-84913631 G>A_KCVQDKHFGIAINLEYFLNKPIIFG
4:89338673-89338673 C>T	1.0	3466	MELANOMA	-	-	-	-	HERC6	NM_001165136,p.T552I|ENST00000380265,p.T552I|uc011cdj.2,p.T552I|ENST00000264346,p.T552I|NM_017912,p.T552I|uc011cdi.2,p.T552I	retained_intron, protein_coding, nonsense_mediated_decay	uc011cdj.2	nonsynonymous SNV	exon13	c.C1655T	p.T552I	AAIISQLLHQTKTEQDHCNVKALLG	AAIISQLLHQTKIEQDHCNVKALLG	6.0	2.0	-	-	3466_4:89338673-89338673 C>T_AAIISQLLHQTKIEQDHCNVKALLG
6:16328202-16328202 G>A	0.0	3466	MELANOMA	-	-	-	-	ATXN1	uc003nbt.3,p.P114S|NM_000332,p.P114S|ENST00000436367,p.P114S|uc010jpi.3,p.P114S|NM_001128164,p.P114S|ENST00000244769,p.P114S	protein_coding, processed_transcript	uc010jpi.3	nonsynonymous SNV	exon7	c.C340T	p.P114S	LPAAYATPQPGTPVSPVQYAHLPHT	LPAAYATPQPGTSVSPVQYAHLPHT	9.0	1.0	unscreened	-	3466_6:16328202-16328202 G>A_LPAAYATPQPGTSVSPVQYAHLPHT
9:93375701-93375701 C>T	0.0	3466	MELANOMA	-	-	-	-	DIRAS2	NM_017594,p.E137K|ENST00000375765,p.E137K|uc004aqx.1,p.E137K|uc022bjs.1,p.E137K	protein_coding	uc022bjs.1	nonsynonymous SNV	exon1	c.G409A	p.E137K	ESPSREVQSSEAEALARTWKCAFME	ESPSREVQSSEAKALARTWKCAFME	1.0	9.0	unscreened	-	3466_9:93375701-93375701 C>T_ESPSREVQSSEAKALARTWKCAFME
17:10309400-10309400 C>T	0.0	3466	MELANOMA	-	-	-	-	MYH8	uc002gmm.2,p.G797E|ENST00000403437,p.G797E|NM_002472,p.G797E	protein_coding	uc002gmm.2	nonsynonymous SNV	exon21	c.G2390A	p.G797E	AQIITRTQAVCRGFLMRVEYQKMLQ	AQIITRTQAVCREFLMRVEYQKMLQ	3.0	9.0	unscreened	-	3466_17:10309400-10309400 C>T_AQIITRTQAVCREFLMRVEYQKMLQ
19:38897583-38897583 C>T	1.0	3466	MELANOMA	-	-	-	-	FAM98C	ENST00000252530,p.P262S|uc002oin.1,p.P262S|NM_174905,p.P262S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002oin.1	nonsynonymous SNV	exon7	c.C784T	p.P262S	EAQGEAMRAVLIPIREVLTPESDIS	EAQGEAMRAVLISIREVLTPESDIS	5.0	6.0	-	-	3466_19:38897583-38897583 C>T_EAQGEAMRAVLISIREVLTPESDIS
16:23713711-23713711 C>T	0.0	3466	MELANOMA	-	-	-	-	ERN2	ENST00000457008,p.G361R|uc010bxp.3,p.G409R|uc010bxq.1,p.G217R|NM_033266,p.G409R|uc002dma.4,p.G409R|ENST00000256797,p.G409R	retained_intron, protein_coding, nonsense_mediated_decay	uc010bxq.1	nonsynonymous SNV	exon11	c.G649A	p.G217R	GSVALPSQWLLIGHHELPPVLHTTM	GSVALPSQWLLIRHHELPPVLHTTM	1.0	5.0	unscreened	-	3466_16:23713711-23713711 C>T_GSVALPSQWLLIRHHELPPVLHTTM
1:98060647-98060647 A>C	1.0	3466	MELANOMA	-	-	-	-	DPYD	uc001drv.3,p.F309C|NM_000110,p.F309C|ENST00000370192,p.F309C	protein_coding, processed_transcript	uc001drv.3	nonsynonymous SNV	exon9	c.T926G	p.F309C	LTQDQGFYTSKDFLPLVAKGSKAGM	LTQDQGFYTSKDCLPLVAKGSKAGM	9.0	1.0	unscreened	-	3466_1:98060647-98060647 A>C_LTQDQGFYTSKDCLPLVAKGSKAGM
11:4968047-4968047 G>A	0.0	3466	MELANOMA	-	-	ID=COSM179082;OCCURENCE=1(large_intestine),2(skin)	-	OR51A4	NM_001005329,p.S95L|uc010qys.2,p.S95L|ENST00000380373,p.S95L	protein_coding	uc010qys.2	nonsynonymous SNV	exon1	c.C284T	p.S95L	VLSIFLFNAPEISSNACFAQEFFIH	VLSIFLFNAPEILSNACFAQEFFIH	1.0	5.0	unscreened	-	3466_11:4968047-4968047 G>A_VLSIFLFNAPEILSNACFAQEFFIH
16:84188205-84188205 G>A	0.0	3466	MELANOMA	-	-	-	-	DNAAF1	ENST00000567918,p.E126K|NM_178452,p.E126K|ENST00000334315,p.E126K|ENST00000563093,p.E126K|uc002fhl.4,p.E126K|ENST00000378553,p.E126K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc002fhl.4	nonsynonymous SNV	exon4	c.G376A	p.E126K	LHFKGFDRIENLEEYTGLRCLWLQS	LHFKGFDRIENLKEYTGLRCLWLQS	1.0	4.0	unscreened	-	3466_16:84188205-84188205 G>A_LHFKGFDRIENLKEYTGLRCLWLQS
12:47173598-47173598 C>T	0.0	3466	MELANOMA	-	-	-	-	SLC38A4	NM_018018,p.G208E|ENST00000266579,p.G208E|ENST00000447411,p.G208E|NM_001143824,p.G208E|uc001rpi.2,p.G208E|uc009zkl.2,p.G208E|uc001rpj.2,p.G208E	protein_coding	uc009zkl.2	nonsynonymous SNV	exon9	c.G623A	p.G208E	LNGNYLIIFVSVGIILPLSLLKNLG	LNGNYLIIFVSVEIILPLSLLKNLG	1.0	9.0	unscreened	-	3466_12:47173598-47173598 C>T_LNGNYLIIFVSVEIILPLSLLKNLG
2:186659719-186659719 C>T	0.0	3466	MELANOMA	-	-	-	-	FSIP2	NM_173651,p.T2708I|ENST00000424728,p.T2619I|ENST00000343098,p.T2708I|uc002upl.3,p.T2708I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon16	c.C8123T	p.T2708I	YVDSQNISVMENTLLPYLPLQVKKD	YVDSQNISVMENILLPYLPLQVKKD	1.0	8.0	unscreened	-	3466_2:186659719-186659719 C>T_YVDSQNISVMENILLPYLPLQVKKD
X:65835823-65835823 G>A	0.0	3466	MELANOMA	-	-	-	-	EDA2R	ENST00000253392,p.R14W|uc004dwq.3,p.R14W|uc004dws.3,p.R14W|ENST00000450752,p.R14W|uc004dwr.3,p.R14W|ENST00000396050,p.R14W|NM_001199687,p.R14W|ENST00000374719,p.R14W|uc022byh.1,p.R14W|NM_021783,p.R14W|uc004dwt.2,p.R14W|ENST00000456230,p.R14W|NM_001242310,p.R14W	protein_coding	uc022byh.1	nonsynonymous SNV	exon1	c.C40T	p.R14W	DCQENEYWDQWGRCVTCQRCGPGQE	DCQENEYWDQWGWCVTCQRCGPGQE	3.0	9.0	unscreened	-	3466_X:65835823-65835823 G>A_DCQENEYWDQWGWCVTCQRCGPGQE
19:9061464-9061464 G>A	0.0	3466	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.S8661F|ENST00000397910,p.S8661F|NM_024690,p.S8661F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C25982T	p.S8661F	NVGTVIYKHLSPSSVLADLVTTKPT	NVGTVIYKHLSPFSVLADLVTTKPT	1.0	7.0	unscreened	-	3466_19:9061464-9061464 G>A_NVGTVIYKHLSPFSVLADLVTTKPT
3:65349241-65349241 C>T	1.0	3466	MELANOMA	-	-	-	-	MAGI1	uc003dmn.3,p.G1132R|uc003dmp.3,p.G1065R|NM_004742,p.G1161R|uc003dmo.3,p.G1161R|ENST00000330909,p.G1160R|uc003dmm.3,p.G1160R|NM_015520,p.G1160R|NM_001033057,p.G1132R|ENST00000472257,p.G919R|ENST00000463103,p.G1036R|ENST00000483466,p.G1161R|ENST00000497477,p.G1065R|ENST00000402939,p.G1132R	retained_intron, protein_coding, processed_transcript	uc003dmp.3	nonsynonymous SNV	exon20	c.G3193A	p.G1065R	DFYTVELERGAKGFGFSLRGGREYN	DFYTVELERGAKRFGFSLRGGREYN	4.0	6.0	unscreened	-	3466_3:65349241-65349241 C>T_DFYTVELERGAKRFGFSLRGGREYN
15:44671965-44671965 C>T	1.0	3466	MELANOMA	-	-	-	-	CASC4	uc001ztq.3,p.L294F|ENST00000299957,p.L294F|NM_177974,p.L294F|uc001ztp.3,p.L294F|NM_138423,p.L294F|ENST00000345795,p.L294F|uc001zto.2,p.L294F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001ztq.3	nonsynonymous SNV	exon7	c.C880T	p.L294F	HQAISHLPTGQPLSPNMPPDSHINH	HQAISHLPTGQPFSPNMPPDSHINH	10.0	7.0	-	-	3466_15:44671965-44671965 C>T_HQAISHLPTGQPFSPNMPPDSHINH
7:18767290-18767290 C>T	1.0	3466	MELANOMA	-	-	-	-	HDAC9	uc003sue.3,p.R604C|uc003suh.3,p.R604C|uc003sui.3,p.R607C|NM_058176,p.R604C|uc003suj.3,p.R563C|ENST00000406451,p.R604C|ENST00000401921,p.R563C|uc011jyd.2,p.R604C|NM_178423,p.R604C|uc010kue.1,p.R259C|uc003sua.1,p.R582C|ENST00000432645,p.R604C|ENST00000441542,p.R607C|NM_178425,p.R607C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011jyd.2	nonsynonymous SNV	exon12	c.C1810T	p.R604C	LAAVGMDGLEKHRLVSRTHSSPAAS	LAAVGMDGLEKHCLVSRTHSSPAAS	8.0	8.0	-	-	3466_7:18767290-18767290 C>T_LAAVGMDGLEKHCLVSRTHSSPAAS
16:57778396-57778396 C>T	1.0	3466	MELANOMA	-	-	-	-	KATNB1	ENST00000569627,p.R88C	retained_intron, protein_coding	ENST00000569627	nonsynonymous SNV	exon3	c.C262T	p.R88C	ELIVAGSQSGSIRVWDLEAAKTLGH	ELIVAGSQSGSICVWDLEAAKTLGH	5.0	1.0	unscreened	-	3466_16:57778396-57778396 C>T_ELIVAGSQSGSICVWDLEAAKTLGH
6:33703096-33703096 G>A	0.0	3466	MELANOMA	-	-	-	-	IP6K3	NM_054111,p.S53F|uc003ofb.2,p.S53F|ENST00000451316,p.S53F|uc010jvf.2,p.S53F|ENST00000293756,p.S53F|NM_001142883,p.S53F	protein_coding	uc010jvf.2	nonsynonymous SNV	exon3	c.C158T	p.S53F	KPLVSREQRFYESLPLAMKRFTPQY	KPLVSREQRFYEFLPLAMKRFTPQY	3.0	1.0	unscreened	-	3466_6:33703096-33703096 G>A_KPLVSREQRFYEFLPLAMKRFTPQY
6:83810572-83810572 C>T	0.0	3466	MELANOMA	-	-	-	-	DOPEY1	ENST00000536812,p.P96L|ENST00000349129,p.P96L|ENST00000237163,p.P96L|NM_015018,p.P96L|NM_001199942,p.P96L|uc011dyy.2,p.P96L|uc003pjs.1,p.P96L|uc010kbl.1,p.P96L|ENST00000369739,p.P96L	retained_intron, protein_coding, processed_transcript	uc011dyy.2	nonsynonymous SNV	exon4	c.C287T	p.P96L	LETYEIIFKIIGPKRLAKDLFLYSS	LETYEIIFKIIGLKRLAKDLFLYSS	5.0	9.0	unscreened	-	3466_6:83810572-83810572 C>T_LETYEIIFKIIGLKRLAKDLFLYSS
11:62293428-62293428 G>A	1.0	3466	MELANOMA	-	-	-	-	AHNAK	NM_001620,p.P2821S|ENST00000378024,p.P2821S|uc001ntl.3,p.P2821S	protein_coding, processed_transcript	uc001ntl.3	nonsynonymous SNV	exon5	c.C8461T	p.P2821S	VNIEGPEGKWKSPKFKMPEMHFKTP	VNIEGPEGKWKSSKFKMPEMHFKTP	10.0	5.0	-	-	3466_11:62293428-62293428 G>A_VNIEGPEGKWKSSKFKMPEMHFKTP
X:68058461-68058461 T>C	1.0	3466	MELANOMA	-	-	-	-	EFNB1	NM_004429,p.F44L|uc004dxd.4,p.F44L|uc004dxe.2,p.F44L|ENST00000204961,p.F44L	protein_coding	uc004dxe.2	nonsynonymous SNV	exon2	c.T130C	p.F44L	LEPVSWSSLNPKFLSGKGLVIYPKI	LEPVSWSSLNPKLLSGKGLVIYPKI	5.0	9.0	unscreened	-	3466_X:68058461-68058461 T>C_LEPVSWSSLNPKLLSGKGLVIYPKI
2:196740465-196740465 C>T	0.0	3466	MELANOMA	-	-	-	-	DNAH7	ENST00000312428,p.D2074N|uc002utj.4,p.D2074N|NM_018897,p.D2074N	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon38	c.G6220A	p.D2074N	LLRQWLDHWNWYDLKDCSMIKLVDI	LLRQWLDHWNWYNLKDCSMIKLVDI	1.0	8.0	unscreened	-	3466_2:196740465-196740465 C>T_LLRQWLDHWNWYNLKDCSMIKLVDI
12:39716503-39716503 G>A	1.0	3466	MELANOMA	-	-	-	-	KIF21A	uc001rlv.3,p.P218L|uc010skl.2,p.P1193L|NM_001173463,p.P1193L|ENST00000361418,p.P1213L|uc001rlz.3,p.P1177L|NM_017641,p.P1200L|ENST00000551264,p.P254L|uc001rlw.3,p.P530L|NM_001173465,p.P1177L|ENST00000541463,p.P1177L|ENST00000395670,p.P1213L|NM_001173464,p.P1213L|uc001rlx.3,p.P1200L|ENST00000544797,p.P1193L|uc001rly.3,p.P1213L|ENST00000361961,p.P1200L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010skl.2	nonsynonymous SNV	exon25	c.C3578T	p.P1193L	TSGTSAREKELSPPPGLPSKIGSIS	TSGTSAREKELSLPPGLPSKIGSIS	2.0	9.0	unscreened	-	3466_12:39716503-39716503 G>A_TSGTSAREKELSLPPGLPSKIGSIS
4:70455197-70455197 C>T	0.0	3466	MELANOMA	-	-	-	-	UGT2A1,UGT2A2	ENST00000514019,p.G659R|NM_001252274,p.G659R|NM_001105677,p.G502R|ENST00000457664,p.G502R|NM_001301239,p.G449R|uc003hem.4,p.G493R|ENST00000286604,p.G493R|uc010iht.3,p.G449R|uc010ihs.3,p.G502R|uc010ihu.3,p.G493R|NM_006798,p.G493R|NM_001252275,p.G493R|uc011caq.2,p.G659R|NM_001301233,p.G458R|ENST00000512704,p.G449R|ENST00000503640,p.G493R|uc021xox.1,p.G458R	 processed_transcript,retained_intron, protein_coding	uc021xox.1	nonsynonymous SNV	exon5	c.G1372A	p.G458R	LTWFQYHSLDVIGFLLVCVTTAIFL	LTWFQYHSLDVIRFLLVCVTTAIFL	1.0	8.0	unscreened	-	3466_4:70455197-70455197 C>T_LTWFQYHSLDVIRFLLVCVTTAIFL
X:73960442-73960442 G>A	0.0	3466	MELANOMA	-	-	-	-	KIAA2022	ENST00000373468,p.S1317F|uc004eby.3,p.S1317F|NM_001008537,p.S1317F|ENST00000055682,p.S1317F	protein_coding	uc004eby.3	nonsynonymous SNV	exon3	c.C3950T	p.S1317F	LLDDDQREFQEPSYILSNIASGMAD	LLDDDQREFQEPFYILSNIASGMAD	1.0	9.0	unscreened	-	3466_X:73960442-73960442 G>A_LLDDDQREFQEPFYILSNIASGMAD
6:63990098-63990098 G>A	0.0	3466	MELANOMA	-	-	-	-	LGSN	NM_016571,p.S453F|ENST00000370657,p.S453F|uc003peh.3,p.S453F	protein_coding, nonsense_mediated_decay	uc003peh.3	nonsynonymous SNV	exon4	c.C1358T	p.S453F	PDESTDFYQVEPSEIPLKLEDALVA	PDESTDFYQVEPFEIPLKLEDALVA	1.0	9.0	unscreened	-	3466_6:63990098-63990098 G>A_PDESTDFYQVEPFEIPLKLEDALVA
16:57996938-57996938 C>T	0.0	3466	MELANOMA	-	-	-	-	CNGB1	uc002emt.2,p.M107I|ENST00000251102,p.M107I|ENST00000562761,p.M107I|NM_001135639,p.M107I|NM_001297,p.M107I|uc010cdh.2,p.M107I|uc002emu.2,p.M107I|ENST00000311183,p.M107I|ENST00000564448,p.M107I|NM_001286130,p.M107I	retained_intron, protein_coding, processed_transcript	uc010cdh.2	nonsynonymous SNV	exon5	c.G321A	p.M107I	MNSPSHRVLTWLMKGVEKVIPQPVH	MNSPSHRVLTWLIKGVEKVIPQPVH	1.0	7.0	unscreened	Snp within 36 nucleotides, 16:57996960-57996960 C>T residue 6 R>H PR	3466_16:57996938-57996938 C>T_MNSPSHRVLTWLIKGVEKVIPQPVH
1:161276642-161276642 C>T	1.0	3466	MELANOMA	-	-	-	-	MPZ	NM_000530,p.V102I|uc001gaf.4,p.V102I|ENST00000533357,p.V102I|ENST00000463290,p.V102I|ENST00000336559,p.V102I|ENST00000360451,p.V112I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001gaf.4	nonsynonymous SNV	exon3	c.G304A	p.V102I	DEVGTFKERIQWVGDPRWKDGSIVI	DEVGTFKERIQWIGDPRWKDGSIVI	5.0	4.0	unscreened	-	3466_1:161276642-161276642 C>T_DEVGTFKERIQWIGDPRWKDGSIVI
1:43770621-43770621 G>A	0.0	3466	MELANOMA	-	-	-	-	TIE1	uc009vwq.3,p.G53D|uc010oka.2,p.G53D|uc010okb.2,p.G53D|NM_005424,p.G53D|uc010okc.2,p.G53D|uc001ciu.3,p.G53D|ENST00000538015,p.G53D|ENST00000441333,p.G53D|ENST00000372476,p.G53D|uc010okd.2,p.G53D	protein_coding, processed_transcript	uc010okd.2	nonsynonymous SNV	exon2	c.G158A	p.G53D	LTCVSGEAGAGRGSDAWGPPLLLEK	LTCVSGEAGAGRDSDAWGPPLLLEK	6.0	2.0	unscreened	-	3466_1:43770621-43770621 G>A_LTCVSGEAGAGRDSDAWGPPLLLEK
X:131762889-131762889 G>A	0.0	3466	MELANOMA	-	-	-	-	HS6ST2	NM_147175,p.L394F|uc011mvb.1,p.L288F|uc011mva.1,p.L120F|ENST00000370833,p.L288F|NM_001077188,p.L434F|uc011mvc.1,p.L248F|ENST00000461959,p.L248F|uc011mvd.1,p.L434F|ENST00000406696,p.L120F|ENST00000521489,p.L434F|ENST00000370837,p.L248F|ENST00000370836,p.L394F|uc011mve.1,p.L394F	protein_coding, nonsense_mediated_decay	uc011mve.1	nonsynonymous SNV	exon4	c.C1180T	p.L394F	PYNLANNRQVRMLSDLTLVGCYNLS	PYNLANNRQVRMFSDLTLVGCYNLS	1.0	9.0	unscreened	-	3466_X:131762889-131762889 G>A_PYNLANNRQVRMFSDLTLVGCYNLS
19:54667456-54667456 C>T	0.0	3466	MELANOMA	-	-	-	-	TMC4	NM_144686,p.R426K|uc010erf.3,p.R432K|ENST00000376591,p.R432K|uc002qdo.3,p.R426K|NM_001145303,p.R432K|ENST00000301187,p.R426K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010erf.3	nonsynonymous SNV	exon8	c.G1295A	p.R432K	YTRSRQIVFILLRTVFLRLASLVVL	YTRSRQIVFILLKTVFLRLASLVVL	1.0	6.0	unscreened	-	3466_19:54667456-54667456 C>T_YTRSRQIVFILLKTVFLRLASLVVL
17:38786499-38786499 G>A	0.0	3466	MELANOMA	-	-	-	1	SMARCE1	ENST00000400122,p.S286F|ENST00000377808,p.S321F|ENST00000447024,p.S150F|uc010wff.1,p.S321F|uc010wfg.1,p.S286F	retained_intron, protein_coding, nonsense_mediated_decay	uc010wfg.1	nonsynonymous SNV	exon9	c.C857T	p.S286F	KNCQLCPRKTLTSRYTDFPD	KNCQLCPRKTLTFRYTDFPD	9.0	9.0	unscreened	-	3466_17:38786499-38786499 G>A_KNCQLCPRKTLTFRYTDFPD
17:45820503-45820503 C>T	0.0	3466	MELANOMA	-	-	-	-	TBX21	NM_013351,p.S238L|ENST00000177694,p.S238L|uc002ilv.1,p.S238L	retained_intron, protein_coding	uc002ilv.1	nonsynonymous SNV	exon3	c.C713T	p.S238L	PNTGAHWMRQEVSFGKLKLTNNKGA	PNTGAHWMRQEVLFGKLKLTNNKGA	2.0	9.0	unscreened	-	3466_17:45820503-45820503 C>T_PNTGAHWMRQEVLFGKLKLTNNKGA
X:73963377-73963377 G>A	0.0	3466	MELANOMA	-	-	-	-	KIAA2022	ENST00000373468,p.P339S|uc004eby.3,p.P339S|ENST00000055682,p.P339S|NM_001008537,p.P339S	protein_coding	uc004eby.3	nonsynonymous SNV	exon3	c.C1015T	p.P339S	LLMQEDAQFNFFPSVFTTCPKRESK	LLMQEDAQFNFFSSVFTTCPKRESK	1.0	9.0	unscreened	-	3466_X:73963377-73963377 G>A_LLMQEDAQFNFFSSVFTTCPKRESK
1:151237655-151237655 C>T	1.0	3466	MELANOMA	-	-	-	-	PSMD4	ENST00000368881,p.A128V|NM_002810,p.A128V|ENST00000437736,p.A113V|ENST00000368884,p.A128V|uc001exl.3,p.A128V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001exl.3	nonsynonymous SNV	exon5	c.C383T	p.A128V	PVEDNEKDLVKLAKRLKKEKVNVDI	PVEDNEKDLVKLVKRLKKEKVNVDI	10.0	7.0	-	-	3466_1:151237655-151237655 C>T_PVEDNEKDLVKLVKRLKKEKVNVDI
14:52735302-52735302 C>T	0.0	3466	MELANOMA	-	-	-	-	PTGDR	uc001wzq.3,p.P257L|ENST00000306051,p.P257L|NM_001281469,p.P257L|ENST00000553372,p.P257L|NM_000953,p.P257L	protein_coding	uc001wzq.3	nonsynonymous SNV	exon1	c.C770T	p.P257L	EPRADGREASPQPLEELDHLLLLAL	EPRADGREASPQLLEELDHLLLLAL	2.0	4.0	unscreened	-	3466_14:52735302-52735302 C>T_EPRADGREASPQLLEELDHLLLLAL
14:68934946-68934946 G>A	1.0	3466	MELANOMA	-	-	-	1	RAD51B	ENST00000471583,p.E339K|NM_133510,p.E339K|uc001xkd.3,p.E339K|uc010aqr.3,p.E220K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010aqr.3	nonsynonymous SNV	exon11	c.G658A	p.E220K	LAPFTSFVYTIKEEGLVLQGQEKP	LAPFTSFVYTIKKEGLVLQGQEKP	6.0	6.0	unscreened	-	3466_14:68934946-68934946 G>A_LAPFTSFVYTIKKEGLVLQGQEKP
16:57778396-57778396 C>T	1.0	3466	MELANOMA	-	-	-	-	KATNB1	NM_005886,p.R88C|uc002eml.1,p.R88C|ENST00000566726,p.R92C|ENST00000562592,p.R88C|ENST00000379661,p.R88C	retained_intron, protein_coding	uc002eml.1	nonsynonymous SNV	exon4	c.C262T	p.R88C	ELIVAGSQSGSIRVWDLEAAKILRT	ELIVAGSQSGSICVWDLEAAKILRT	5.0	1.0	-	-	3466_16:57778396-57778396 C>T_ELIVAGSQSGSICVWDLEAAKILRT
5:150028589-150028589 C>T	1.0	3466	MELANOMA	-	-	-	-	SYNPO	ENST00000394243,p.T495I|ENST00000519664,p.T251I|NM_001166208,p.T495I|ENST00000307662,p.T251I|ENST00000522122,p.T495I|uc021yfv.1,p.T251I|NM_007286,p.T251I|uc003lsn.3,p.T495I|NM_001166209,p.T495I|NM_001109974,p.T251I|uc003lso.4,p.T251I|uc003lsp.3,p.T251I|uc021yfu.1,p.T495I	protein_coding, processed_transcript	uc021yfv.1	nonsynonymous SNV	exon1	c.C752T	p.T251I	TARPFGIQAPGGTSQMERSPMLERR	TARPFGIQAPGGISQMERSPMLERR	7.0	9.0	-	-	3466_5:150028589-150028589 C>T_TARPFGIQAPGGISQMERSPMLERR
21:27852593-27852593 G>A	0.0	3466	MELANOMA	-	-	-	-	CYYR1	uc002yme.3,p.P111L	protein_coding	uc002yme.3	nonsynonymous SNV	exon3	c.C332T	p.P111L	LRTTHINTVSSYPAGPPPYGHDHEM	LRTTHINTVSSYLAGPPPYGHDHEM	4.0	1.0	unscreened	-	3466_21:27852593-27852593 G>A_LRTTHINTVSSYLAGPPPYGHDHEM
2:85008691-85008691 G>A	0.0	3466	MELANOMA	-	-	-	-	DNAH6	ENST00000389394,p.G3593E|ENST00000237449,p.G3593E|uc002sot.3,p.G352E|NM_001370,p.G3593E|uc010fgb.3,p.G3593E	retained_intron, protein_coding, processed_transcript	uc010fgb.3	nonsynonymous SNV	exon65	c.G10778A	p.G3593E	IAEKMVKDAMKSGNWVFLQNCHLAV	IAEKMVKDAMKSENWVFLQNCHLAV	1.0	6.0	unscreened	-	3466_2:85008691-85008691 G>A_IAEKMVKDAMKSENWVFLQNCHLAV
1:196311249-196311249 C>T	0.0	3466	MELANOMA	-	-	-	-	KCNT2	NM_001287819,p.G505R|ENST00000294725,p.G505R|ENST00000451324,p.G116R|NM_198503,p.G505R|uc001gtf.1,p.G505R|uc001gtd.1,p.G505R|ENST00000367433,p.G505R|uc009wyu.3,p.G505R|uc001gth.1,p.G26R	protein_coding, processed_transcript	uc009wyu.3	nonsynonymous SNV	exon15	c.G1513A	p.G505R	VLEESTFFAEYEGKSFTYASFHAHK	VLEESTFFAEYERKSFTYASFHAHK	2.0	1.0	unscreened	-	3466_1:196311249-196311249 C>T_VLEESTFFAEYERKSFTYASFHAHK
14:68934946-68934946 G>A	1.0	3466	MELANOMA	-	-	-	1	RAD51B	ENST00000487861,p.E339K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000487861	nonsynonymous SNV	exon10	c.G1015A	p.E339K	LAPFTSFVYTIKEEGLVLQVVRTVA	LAPFTSFVYTIKKEGLVLQVVRTVA	6.0	6.0	unscreened	-	3466_14:68934946-68934946 G>A_LAPFTSFVYTIKKEGLVLQVVRTVA
1:20982024-20982024 T>G	0.0	3466	MELANOMA	-	-	-	-	DDOST	uc001bdo.1,p.T171P|uc010ode.1,p.T134P|ENST00000464364,p.T125P|ENST00000415136,p.T134P|ENST00000375048,p.T171P|NM_005216,p.T171P|ENST00000602624,p.T154P	protein_coding, processed_transcript	uc010ode.1	nonsynonymous SNV	exon4	c.A400C	p.T134P	HHNYDISDLGQHTLIVADTENLLKA	HHNYDISDLGQHPLIVADTENLLKA	9.0	2.0	unscreened	-	3466_1:20982024-20982024 T>G_HHNYDISDLGQHPLIVADTENLLKA
8:145770765-145770765 G>A	0.0	3466	MELANOMA	-	-	-	-	ARHGAP39	ENST00000540274,p.R797C|uc003zds.1,p.R797C|uc003zdt.1,p.R797C|uc011llk.1,p.R797C|ENST00000377307,p.R797C|NM_025251,p.R797C|ENST00000276826,p.R797C	protein_coding, processed_transcript	uc011llk.1	nonsynonymous SNV	exon6	c.C2389T	p.R797C	YIQLCRQTTENFRLESLARGWELMA	YIQLCRQTTENFCLESLARGWELMA	5.0	1.0	unscreened	-	3466_8:145770765-145770765 G>A_YIQLCRQTTENFCLESLARGWELMA
8:70617329-70617329 G>A	0.0	3466	MELANOMA	-	-	-	-	SLCO5A1	ENST00000524945,p.T520I|NM_030958,p.T520I|uc010lzc.2,p.T465I|NM_001146008,p.T520I|ENST00000530307,p.T465I|uc003xyk.3,p.T520I|ENST00000260126,p.T520I|uc003xyl.3,p.T520I|NM_001146009,p.T465I|uc010lzb.3,p.T465I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lzc.2	nonsynonymous SNV	exon5	c.C1394T	p.T465I	MICSGVSLLCFSTLFIVGCESINLG	MICSGVSLLCFSILFIVGCESINLG	1.0	9.0	unscreened	-	3466_8:70617329-70617329 G>A_MICSGVSLLCFSILFIVGCESINLG
18:42281559-42281559 G>A, 18:42281579-42281579 G>A	0.0	3466	MELANOMA	-	-	-	1	SETBP1	uc002lay.3,p.G83E|NM_015559,p.G83E|ENST00000282030,p.G83E|uc010dni.3,p.G83E|ENST00000591940,p.G83E|NM_001130110,p.G83E|ENST00000426838,p.G83E	protein_coding	uc010dni.3	nonsynonymous SNV	exon2	c.G248A	p.G83E	SNSNADSEKWVAGDGLEEQEFSIKEANFTEGS	SNSNADSEKWVAEDGLEEQKFSIKEANFTEGS	6.0	1.0	unscreened	Additional variant within 36 nucleotides, 18:42281579-42281579 G>A, residue 20 E>K PR	3466_18:42281559-42281559 G>A, 18:42281579-42281579 G>A_SNSNADSEKWVAEDGLEEQKFSIKEANFTEGS
5:41048471-41048471 C>A	0.0	3466	MELANOMA	-	-	-	-	MROH2B	NM_173489,p.D547Y|uc003jmi.4,p.D102Y|uc003jmj.4,p.D547Y|ENST00000399564,p.D547Y|ENST00000506092,p.D102Y	retained_intron, protein_coding	uc003jmj.4	nonsynonymous SNV	exon16	c.G1639T	p.D547Y	KILPEIIHPKLVDLWKTRLPELLQP	KILPEIIHPKLVYLWKTRLPELLQP	1.0	5.0	unscreened	-	3466_5:41048471-41048471 C>A_KILPEIIHPKLVYLWKTRLPELLQP
14:50713868-50713868 G>A	1.0	3466	MELANOMA	-	-	-	-	L2HGDH	uc010tqo.1,p.H434Y|ENST00000421284,p.H434Y|NM_024884,p.H434Y|uc001wxu.3,p.H434Y|ENST00000267436,p.H434Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tqo.1	nonsynonymous SNV	exon10	c.C1300T	p.H434Y	DAGVGDIGNRILHVRNAPSPAATSS	DAGVGDIGNRILYVRNAPSPAATSS	5.0	5.0	unscreened	-	3466_14:50713868-50713868 G>A_DAGVGDIGNRILYVRNAPSPAATSS
2:71709010-71709010 G>A	1.0	3466	MELANOMA	-	-	-	-	DYSF	uc010fen.3,p.G50E|NM_001130985,p.G50E|uc010fei.3,p.G49E|ENST00000394120,p.G50E|uc010feh.3,p.G49E|uc002sig.4,p.G49E|NM_001130979,p.G49E|ENST00000409744,p.G50E|uc010fel.3,p.G50E|uc002sie.3,p.G49E|uc010feg.3,p.G49E|ENST00000409762,p.G49E|ENST00000258104,p.G49E|uc010fee.3,p.G49E|ENST00000410041,p.G50E|NM_001130982,p.G50E|uc002sif.3,p.G50E|ENST00000429174,p.G49E|uc010feo.3,p.G50E|ENST00000409651,p.G50E|uc010fem.3,p.G50E|NM_001130980,p.G49E|NM_001130976,p.G49E|NM_001130987,p.G50E|NM_003494,p.G49E|NM_001130983,p.G50E|NM_001130981,p.G49E|uc010fek.3,p.G50E|NM_001130455,p.G50E|uc010fej.3,p.G50E|NM_001130977,p.G49E|ENST00000413539,p.G49E|ENST00000409366,p.G50E|uc010fef.3,p.G49E|NM_001130986,p.G50E|NM_001130984,p.G50E|ENST00000410020,p.G50E|NM_001130978,p.G49E|ENST00000409582,p.G49E	protein_coding, processed_transcript	uc010feo.3	nonsynonymous SNV	exon3	c.G149A	p.G50E	VIKNSVNPVWNEGFEWDLKGIPLDQ	VIKNSVNPVWNEEFEWDLKGIPLDQ	4.0	7.0	unscreened	-	3466_2:71709010-71709010 G>A_VIKNSVNPVWNEEFEWDLKGIPLDQ
9:125316346-125316346 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1701671;OCCURENCE=2(skin)	-	OR1N2	ENST00000373688,p.P300S|NM_001004457,p.P300S|uc011lyx.2,p.P300S	protein_coding	uc011lyx.2	nonsynonymous SNV	exon1	c.C898T	p.P300S	ESRAAVLYMVIIPTLNPFIYSLRNR	ESRAAVLYMVIISTLNPFIYSLRNR	1.0	9.0	unscreened	-	3466_9:125316346-125316346 C>T_ESRAAVLYMVIISTLNPFIYSLRNR
2:189904199-189904199 C>T	1.0	3466	MELANOMA	-	-	-	-	COL5A2	ENST00000374866,p.E1242K|uc002uqk.3,p.E1242K|NM_000393,p.E1242K|uc010frx.3,p.E818K	retained_intron, protein_coding	uc010frx.3	nonsynonymous SNV	exon35	c.G2452A	p.E818K	TAALGDIMGHYDESMPDPLPEFTED	TAALGDIMGHYDKSMPDPLPEFTED	10.0	3.0	-	-	3466_2:189904199-189904199 C>T_TAALGDIMGHYDKSMPDPLPEFTED
11:43964473-43964473 G>A	0.0	3466	MELANOMA	-	-	-	-	C11orf96	ENST00000528572,p.R123Q	protein_coding	ENST00000528572	nonsynonymous SNV	exon1	c.G368A	p.R123Q	RRRRRRHGRQARRADGHLLQLPGGD	RRRRRRHGRQARQADGHLLQLPGGD	5.0	1.0	unscreened	-	3466_11:43964473-43964473 G>A_RRRRRRHGRQARQADGHLLQLPGGD
4:69095116-69095116 C>T	0.0	3466	MELANOMA	-	-	-	-	TMPRSS11B	uc003hdw.4,p.D269N|ENST00000332644,p.D269N|NM_182502,p.D269N	retained_intron, protein_coding	uc003hdw.4	nonsynonymous SNV	exon8	c.G805A	p.D269N	IFHENYSSPGLHDDIALVQLAEEVS	IFHENYSSPGLHNDIALVQLAEEVS	1.0	5.0	unscreened	-	3466_4:69095116-69095116 C>T_IFHENYSSPGLHNDIALVQLAEEVS
12:18699288-18699288 G>A	0.0	3466	MELANOMA	-	-	-	-	PIK3C2G	NM_004570,p.G1130E|uc010sib.2,p.G1171E|ENST00000538779,p.G1171E|NM_001288772,p.G1171E|ENST00000266497,p.G1130E|ENST00000433979,p.G1130E|NM_001288774,p.G949E|uc001rdt.3,p.G1130E|uc010sic.2,p.G949E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010sic.2	nonsynonymous SNV	exon25	c.G2846A	p.G949E	EMMLYAGLPELSGIQDLKYVYNNLR	EMMLYAGLPELSEIQDLKYVYNNLR	1.0	5.0	unscreened	-	3466_12:18699288-18699288 G>A_EMMLYAGLPELSEIQDLKYVYNNLR
7:21723550-21723550 C>T	0.0	3466	MELANOMA	-	-	-	-	DNAH11	ENST00000409508,p.P1870L|uc031swq.1,p.P67L|ENST00000328843,p.P1877L|uc031swp.1,p.P1870L|NM_001277115,p.P1870L	retained_intron, protein_coding, processed_transcript	uc031swq.1	nonsynonymous SNV	exon32	c.C200T	p.P67L	EYLGNSPRLVITPLTDRCYITLTQS	EYLGNSPRLVITLLTDRCYITLTQS	1.0	8.0	unscreened	-	3466_7:21723550-21723550 C>T_EYLGNSPRLVITLLTDRCYITLTQS
22:40057169-40057169 C>T	0.0	3466	MELANOMA	-	-	-	-	CACNA1I	ENST00000407673,p.P884S|uc003ayc.3,p.P919S|ENST00000401624,p.P919S|ENST00000402142,p.P919S|uc003ayf.3,p.P799S|NM_001003406,p.P884S|uc003ayd.3,p.P884S|ENST00000400164,p.P884S|ENST00000336649,p.P925S|uc003aye.3,p.P834S|ENST00000404898,p.P884S|NM_021096,p.P919S	protein_coding, processed_transcript	uc003ayf.3	nonsynonymous SNV	exon14	c.C2395T	p.P799S	PMTPNGHLDPSLPLGGHLGPAGAAG	PMTPNGHLDPSLSLGGHLGPAGAAG	1.0	6.0	unscreened	-	3466_22:40057169-40057169 C>T_PMTPNGHLDPSLSLGGHLGPAGAAG
3:124175500-124175500 C>T	0.0	3466	MELANOMA	-	-	ID=COSM3426989,COSM3426990;OCCURENCE=1(large_intestine)	-	KALRN	ENST00000240874,p.S1258L|uc010hrv.1,p.S1249L|uc003ehf.1,p.S1258L|NM_003947,p.S1258L|uc003ehg.3,p.S1258L|NM_001024660,p.S1258L|ENST00000360013,p.S1258L|uc011bjy.1,p.S1249L|uc003ehh.1,p.S604L|ENST00000460856,p.S1249L	retained_intron, protein_coding, processed_transcript	uc011bjy.1	nonsynonymous SNV	exon23	c.C3746T	p.S1249L	KDLELDIIPASLSDREVKLRDANHE	KDLELDIIPASLLDREVKLRDANHE	6.0	6.0	unscreened	-	3466_3:124175500-124175500 C>T_KDLELDIIPASLLDREVKLRDANHE
11:124310158-124310158 G>A	0.0	3466	MELANOMA	-	-	-	-	OR8B8	uc010sal.2,p.S275F|ENST00000328064,p.S275F|NM_012378,p.S275F	protein_coding	uc010sal.2	nonsynonymous SNV	exon1	c.C824T	p.S275F	FSLLAMNQGKVSSLFYTTVVPMLNP	FSLLAMNQGKVSFLFYTTVVPMLNP	1.0	4.0	unscreened	-	3466_11:124310158-124310158 G>A_FSLLAMNQGKVSFLFYTTVVPMLNP
20:42747229-42747229 C>T	1.0	3466	MELANOMA	-	-	-	-	JPH2	ENST00000372980,p.E402K|NM_020433,p.E402K|uc002xli.1,p.E402K	protein_coding	uc002xli.1	nonsynonymous SNV	exon3	c.G1204A	p.E402K	RTSHAKAKAEAAEQAALAANQESNI	RTSHAKAKAEAAKQAALAANQESNI	3.0	3.0	unscreened	-	3466_20:42747229-42747229 C>T_RTSHAKAKAEAAKQAALAANQESNI
12:47186741-47186741 C>T	0.0	3466	MELANOMA	-	-	-	-	SLC38A4	uc001rpi.2,p.M38I|NM_018018,p.M38I|ENST00000266579,p.M38I|ENST00000447411,p.M38I|uc001rpj.2,p.M38I|uc009zkl.2,p.M38I|ENST00000547477,p.M38I|ENST00000546940,p.M38I|NM_001143824,p.M38I	protein_coding	uc009zkl.2	nonsynonymous SNV	exon3	c.G114A	p.M38I	SYIGIGNSEKAAMSSQFANEDTESQ	SYIGIGNSEKAAISSQFANEDTESQ	1.0	9.0	unscreened	-	3466_12:47186741-47186741 C>T_SYIGIGNSEKAAISSQFANEDTESQ
11:56510452-56510452 G>A	0.0	3466	MELANOMA	-	-	-	-	OR9G4	uc010rjo.2,p.S279F|NM_001005284,p.S279F|ENST00000302957,p.S279F	protein_coding	uc010rjo.2	nonsynonymous SNV	exon1	c.C836T	p.S279F	YGSLLFMYSRPSSTYSLERDKVAAL	YGSLLFMYSRPSFTYSLERDKVAAL	1.0	4.0	unscreened	-	3466_11:56510452-56510452 G>A_YGSLLFMYSRPSFTYSLERDKVAAL
18:23845209-23845209 C>T	1.0	3466	MELANOMA	-	-	-	-	TAF4B	uc002kvu.4,p.T140I|ENST00000269142,p.T140I|NM_001293725,p.T140I|ENST00000418698,p.T140I|uc002kvt.4,p.T140I|ENST00000578121,p.T140I|ENST00000400466,p.T140I|NM_005640,p.T140I	protein_coding, nonsense_mediated_decay	uc002kvu.4	nonsynonymous SNV	exon2	c.C419T	p.T140I	LVSPQQTVTRAETTSNITSRPAVPA	LVSPQQTVTRAEITSNITSRPAVPA	4.0	5.0	unscreened	-	3466_18:23845209-23845209 C>T_LVSPQQTVTRAEITSNITSRPAVPA
14:68934946-68934946 G>A	1.0	3466	MELANOMA	-	-	-	1	RAD51B	ENST00000554575,p.E26K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000554575	nonsynonymous SNV	exon2	c.G76A	p.E26K	LAPFTSFVYTIKEEGLVLQAGK	LAPFTSFVYTIKKEGLVLQAGK	6.0	6.0	unscreened	-	3466_14:68934946-68934946 G>A_LAPFTSFVYTIKKEGLVLQAGK
4:52860751-52860751 G>A	1.0	3466	MELANOMA	-	-	-	-	LRRC66	ENST00000343457,p.P813S|uc003gzi.3,p.P813S|NM_001024611,p.P813S	protein_coding	uc003gzi.3	nonsynonymous SNV	exon4	c.C2437T	p.P813S	GLSPWPRSPGNSPLGDEFPGMFTYD	GLSPWPRSPGNSSLGDEFPGMFTYD	3.0	4.0	unscreened	-	3466_4:52860751-52860751 G>A_GLSPWPRSPGNSSLGDEFPGMFTYD
15:75197015-75197015 G>A	0.0	3466	MELANOMA	-	-	-	-	FAM219B	uc002azh.4,p.S140L|ENST00000565772,p.S54L|ENST00000357635,p.S140L|ENST00000563119,p.S140L|uc002azf.3,p.S140L|NM_020447,p.S140L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002azh.4	nonsynonymous SNV	exon4	c.C419T	p.S140L	DGELGSRYSSGYSSAEQVNQDVSRQ	DGELGSRYSSGYLSAEQVNQDVSRQ	6.0	1.0	unscreened	-	3466_15:75197015-75197015 G>A_DGELGSRYSSGYLSAEQVNQDVSRQ
6:127797396-127797396 C>T	1.0	3466	MELANOMA	-	-	-	-	SOGA3	ENST00000556132,p.R592K|ENST00000465909,p.R592K|NM_001012279,p.R592K|ENST00000525778,p.R592K|ENST00000368268,p.R592K|ENST00000481848,p.R592K|uc003qbd.3,p.R592K	 nonsense_mediated_decay,processed_transcript,protein_coding	uc003qbd.3	nonsynonymous SNV	exon6	c.G1775A	p.R592K	PSTREAELKLRLRLVEEEANILGRK	PSTREAELKLRLKLVEEEANILGRK	1.0	9.0	unscreened	-	3466_6:127797396-127797396 C>T_PSTREAELKLRLKLVEEEANILGRK
4:158057745-158057745 C>T	0.0	3466	MELANOMA	-	-	-	-	GLRB	NM_000824,p.P141L|ENST00000509282,p.P141L|uc021xtq.1,p.P141L|ENST00000541722,p.P141L|uc021xtp.1,p.P141L|uc003ipj.2,p.P141L|NM_001166060,p.P141L|ENST00000264428,p.P141L|NM_001166061,p.P141L	retained_intron, protein_coding, nonsense_mediated_decay	uc021xtq.1	nonsynonymous SNV	exon5	c.C422T	p.P141L	TVDPTMYKCLWKPDLFFANEKSANF	TVDPTMYKCLWKLDLFFANEKSANF	3.0	6.0	unscreened	-	3466_4:158057745-158057745 C>T_TVDPTMYKCLWKLDLFFANEKSANF
11:4470892-4470892 C>T	0.0	3466	MELANOMA	-	-	-	-	OR52K2	ENST00000325719,p.S108F|NM_001005172,p.S108F|uc001lyz.2,p.S108F	protein_coding	uc001lyz.2	nonsynonymous SNV	exon1	c.C323T	p.S108F	FFACLAQMFFLHSFSIMESAVLLAM	FFACLAQMFFLHFFSIMESAVLLAM	1.0	2.0	unscreened	-	3466_11:4470892-4470892 C>T_FFACLAQMFFLHFFSIMESAVLLAM
6:51947230-51947230 G>A	0.0	3466	MELANOMA	-	-	-	-	PKHD1	ENST00000340994,p.P81S|NM_138694,p.P81S|uc003pah.1,p.P81S|uc003pai.3,p.P81S|ENST00000371117,p.P81S|NM_170724,p.P81S	protein_coding	uc003pai.3	nonsynonymous SNV	exon4	c.C241T	p.P81S	VPALRSVPCDVFPVFLDLPVVTCRT	VPALRSVPCDVFSVFLDLPVVTCRT	1.0	9.0	unscreened	-	3466_6:51947230-51947230 G>A_VPALRSVPCDVFSVFLDLPVVTCRT
5:157053715-157053715 C>T	0.0	3466	MELANOMA	-	-	-	-	SOX30	ENST00000311371,p.V468I|uc003lxc.1,p.V468I|NM_007017,p.V468I	protein_coding	uc003lxc.1	nonsynonymous SNV	exon4	c.G1402A	p.V468I	NPITHPVVHALTVGLPLAMEIFRVQ	NPITHPVVHALTIGLPLAMEIFRVQ	1.0	9.0	unscreened	-	3466_5:157053715-157053715 C>T_NPITHPVVHALTIGLPLAMEIFRVQ
7:142651450-142651450 C>T	0.0	3466	MELANOMA	-	-	-	-	KEL	uc003wcb.3,p.E249K|ENST00000355265,p.E249K|NM_000420,p.E249K	retained_intron, protein_coding, processed_transcript	uc003wcb.3	nonsynonymous SNV	exon8	c.G745A	p.E249K	DQEQKIYAQIFREYLTYLNQLGTLL	DQEQKIYAQIFRKYLTYLNQLGTLL	5.0	1.0	unscreened	-	3466_7:142651450-142651450 C>T_DQEQKIYAQIFRKYLTYLNQLGTLL
19:7794726-7794726 C>T	0.0	3466	MELANOMA	-	-	-	-	CLEC4G	uc021uny.1,p.G230R|NM_001244856,p.G230R|NM_198492,p.G242R|ENST00000328853,p.G242R|uc002mhp.4,p.G242R	protein_coding, processed_transcript	uc021uny.1	nonsynonymous SNV	exon8	c.G688A	p.G230R	HLGKVQGYQWVDGVSLSFSHWNQGE	HLGKVQGYQWVDRVSLSFSHWNQGE	1.0	7.0	unscreened	-	3466_19:7794726-7794726 C>T_HLGKVQGYQWVDRVSLSFSHWNQGE
2:131415023-131415023 C>T	0.0	3466	MELANOMA	-	-	-	-	POTEJ	uc021vor.2,p.S897F|ENST00000409602,p.S897F|NM_001277083,p.S897F	protein_coding	uc021vor.2	nonsynonymous SNV	exon15	c.C2690T	p.S897F	DFEQEMAMVASSSSLEKSYELPDGQ	DFEQEMAMVASSFSLEKSYELPDGQ	1.0	8.0	unscreened	-	3466_2:131415023-131415023 C>T_DFEQEMAMVASSFSLEKSYELPDGQ
6:27420467-27420467 G>A	1.0	3466	MELANOMA	-	-	-	-	ZNF184	uc010jqv.3,p.P291S|NM_007149,p.P291S|uc003nji.3,p.P291S|ENST00000211936,p.P291S|uc003njj.3,p.P291S|ENST00000377419,p.P291S	protein_coding	uc010jqv.3	nonsynonymous SNV	exon6	c.C871T	p.P291S	KCDQCGKGFIEGPSLTQHQRIHTGE	KCDQCGKGFIEGSSLTQHQRIHTGE	8.0	9.0	unscreened	-	3466_6:27420467-27420467 G>A_KCDQCGKGFIEGSSLTQHQRIHTGE
7:141673285-141673285 C>T	0.0	3466	MELANOMA	-	-	-	-	TAS2R38	uc003vwx.1,p.G69R|NM_176817,p.G69R|ENST00000547270,p.G69R	protein_coding	uc003vwx.1	nonsynonymous SNV	exon1	c.G205A	p.G69R	LLCLSISRLFLHGLLFLSAIQLTHF	LLCLSISRLFLHRLLFLSAIQLTHF	1.0	1.0	unscreened	-	3466_7:141673285-141673285 C>T_LLCLSISRLFLHRLLFLSAIQLTHF
1:114401698-114401698 C>T	0.0	3466	MELANOMA	-	-	-	-	PTPN22	ENST00000525799,p.D67N|uc009wgr.2,p.D67N|ENST00000460620,p.D67N|uc001edt.3,p.D67N|uc021ory.1,p.D67N|NM_012411,p.D67N|NM_001193431,p.D67N|ENST00000528414,p.D67N|ENST00000420377,p.D67N|uc001eds.3,p.D67N|ENST00000359785,p.D67N|uc021orx.1,p.D67N|uc009wgq.3,p.D67N|uc001edu.2,p.D67N|ENST00000532224,p.D67N|uc009wgs.2,p.D67N|NM_015967,p.D67N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ory.1	nonsynonymous SNV	exon3	c.G199A	p.D67N	IKKNRYKDILPYDYSRVELSLITSD	IKKNRYKDILPYNYSRVELSLITSD	6.0	8.0	unscreened	-	3466_1:114401698-114401698 C>T_IKKNRYKDILPYNYSRVELSLITSD
9:18887873-18887873 C>T	1.0	3466	MELANOMA	-	-	-	-	ADAMTSL1	ENST00000542621,p.H133Y|ENST00000380548,p.H1432Y|ENST00000380538,p.H34Y|ENST00000380545,p.H133Y|uc003znf.4,p.H133Y|NM_001040272,p.H1432Y|uc003zne.4,p.H1432Y|ENST00000388710,p.H133Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003znf.4	nonsynonymous SNV	exon3	c.C397T	p.H133Y	IKGHPVPNITWFHGGQPIVTATGLT	IKGHPVPNITWFYGGQPIVTATGLT	8.0	9.0	-	-	3466_9:18887873-18887873 C>T_IKGHPVPNITWFYGGQPIVTATGLT
13:67477653-67477653 C>T	0.0	3466	MELANOMA	-	-	-	-	PCDH9	uc010thl.2,p.E1041K	protein_coding	uc010thl.2	nonsynonymous SNV	exon3	c.G3121A	p.E1041K	CPSSTGFHIQENEESHYEPQDEFYD	CPSSTGFHIQENKESHYEPQDEFYD	8.0	9.0	unscreened	-	3466_13:67477653-67477653 C>T_CPSSTGFHIQENKESHYEPQDEFYD
11:66260376-66260376 C>T	1.0	3466	MELANOMA	-	-	-	-	DPP3	uc010rpe.2,p.P363L|ENST00000453114,p.P393L|NM_001256670,p.P363L|NM_130443,p.P393L|ENST00000532677,p.P412L|ENST00000360510,p.P393L|ENST00000530165,p.P363L|uc001oif.2,p.P393L|ENST00000531863,p.P413L|ENST00000541961,p.P393L|uc001oig.2,p.P393L|NM_005700,p.P393L	retained_intron, protein_coding, processed_transcript	uc010rpe.2	nonsynonymous SNV	exon9	c.C1088T	p.P363L	FAGSGIPAGINIPNYDDLRQTEGFK	FAGSGIPAGINILNYDDLRQTEGFK	7.0	4.0	-	-	3466_11:66260376-66260376 C>T_FAGSGIPAGINILNYDDLRQTEGFK
2:215854158-215854158 G>A	0.0	3466	MELANOMA	-	-	-	-	ABCA12	NM_173076,p.P1242S|ENST00000272895,p.P1242S|uc002vew.3,p.P1242S|ENST00000389661,p.P924S|uc002vev.3,p.P924S|NM_015657,p.P924S|uc010zjn.2,p.P169S	protein_coding	uc010zjn.2	nonsynonymous SNV	exon28	c.C505T	p.P169S	GIGLQWENMYTSPVQDDTTSFGWLC	GIGLQWENMYTSSVQDDTTSFGWLC	1.0	1.0	unscreened	-	3466_2:215854158-215854158 G>A_GIGLQWENMYTSSVQDDTTSFGWLC
11:55322195-55322195 C>T	0.0	3466	MELANOMA	-	-	ID=COSM136832;OCCURENCE=1(skin)	-	OR4C15	uc010rig.2,p.S138F|NM_001001920,p.S138F|ENST00000314644,p.S138F	protein_coding	uc010rig.2	nonsynonymous SNV	exon1	c.C413T	p.S138F	FSSVITPKMIVDSLYVTKTISFEGC	FSSVITPKMIVDFLYVTKTISFEGC	1.0	5.0	unscreened	-	3466_11:55322195-55322195 C>T_FSSVITPKMIVDFLYVTKTISFEGC
17:7077142-7077142 G>A	1.0	3466	MELANOMA	-	-	-	-	ASGR1	NM_001671,p.P238S|NM_001197216,p.P199S|ENST00000269299,p.P238S|ENST00000380920,p.P137S|ENST00000574388,p.P199S|uc021toy.1,p.P199S|uc002ges.4,p.P238S	retained_intron, protein_coding	uc021toy.1	nonsynonymous SNV	exon8	c.C595T	p.P199S	GTDYETGFKNWRPEQPDDWYGHGLG	GTDYETGFKNWRSEQPDDWYGHGLG	2.0	9.0	unscreened	-	3466_17:7077142-7077142 G>A_GTDYETGFKNWRSEQPDDWYGHGLG
10:47087408-47087408 C>T	0.0	3466	MELANOMA	-	-	-	-	LOC100996758,NPY4R	uc021ppu.1,p.H209Y|NM_005972,p.H209Y|ENST00000374312,p.H209Y|NM_001278794,p.H209Y|uc009xna.3,p.H209Y|uc001jee.3,p.H209Y|ENST00000395716,p.H209Y|NM_001278795,p.H209Y	protein_coding	uc021ppu.1	nonsynonymous SNV	exon1	c.C625T	p.H209Y	DKVVCTESWPLAHHRTIYTTFLLLF	DKVVCTESWPLAYHRTIYTTFLLLF	2.0	1.0	unscreened	-	3466_10:47087408-47087408 C>T_DKVVCTESWPLAYHRTIYTTFLLLF
X:44109483-44109483 C>T	1.0	3466	MELANOMA	-	-	-	-	EFHC2	ENST00000420999,p.R272Q|NM_025184,p.R272Q|uc004dgb.4,p.R272Q	protein_coding	uc004dgb.4	nonsynonymous SNV	exon5	c.G815A	p.R272Q	IEIKELLPHSSGRDALKMFLRRSKL	IEIKELLPHSSGQDALKMFLRRSKL	3.0	9.0	unscreened	-	3466_X:44109483-44109483 C>T_IEIKELLPHSSGQDALKMFLRRSKL
12:129399478-129399478 G>A	0.0	3466	MELANOMA	-	-	-	-	GLT1D1	ENST00000442111,p.G138E|ENST00000542193,p.G55E|ENST00000537468,p.G143E|uc010tbh.1,p.G143E	protein_coding, nonsense_mediated_decay	uc010tbh.1	nonsynonymous SNV	exon7	c.G428A	p.G143E	PHAKGKVYVQSQGIATTPNAAFNWN	PHAKGKVYVQSQEIATTPNAAFNWN	1.0	9.0	unscreened	-	3466_12:129399478-129399478 G>A_PHAKGKVYVQSQEIATTPNAAFNWN
1:247695603-247695603 C>T	0.0	3466	MELANOMA	-	-	-	-	OR2C3	uc021pmb.1,p.D71N|ENST00000366487,p.D71N	protein_coding	uc021pmb.1	nonsynonymous SNV	exon1	c.G211A	p.D71N	PMYFFLANLPFLDMSFTTSIVPQLL	PMYFFLANLPFLNMSFTTSIVPQLL	1.0	3.0	unscreened	-	3466_1:247695603-247695603 C>T_PMYFFLANLPFLNMSFTTSIVPQLL
6:136667072-136667072 G>A	1.0	3466	MELANOMA	-	-	-	-	MAP7	NM_003980,p.P721S|NM_001198619,p.P575S|NM_001198616,p.P684S|uc010kgs.3,p.P575S|NM_001198608,p.P743S|ENST00000454590,p.P743S|NM_001198617,p.P627S|NM_001198615,p.P706S|uc011edg.2,p.P751S|ENST00000354570,p.P721S|NM_001198609,p.P751S|NM_001198611,p.P706S|uc011edf.2,p.P706S|ENST00000438100,p.P706S|uc010kgq.2,p.P627S|NM_001198618,p.P575S|uc003qha.2,p.P684S|uc010kgv.3,p.P743S|uc003qgz.3,p.P721S|uc011edi.2,p.P575S|ENST00000544465,p.P706S|uc011edh.2,p.P706S|ENST00000432797,p.P575S|uc010kgu.3,p.P743S|NM_001198614,p.P743S	protein_coding	uc011edi.2	nonsynonymous SNV	exon17	c.C1723T	p.P575S	VTNSESPEIPLNPILAFDDEGTLGP	VTNSESPEIPLNSILAFDDEGTLGP	3.0	9.0	unscreened	-	3466_6:136667072-136667072 G>A_VTNSESPEIPLNSILAFDDEGTLGP
21:46308778-46308778 C>T	0.0	3466	MELANOMA	-	-	-	-	ITGB2	ENST00000397857,p.G637D|uc002zgg.2,p.G637D|ENST00000355153,p.G637D|NM_000211,p.G637D|uc010gpw.2,p.G580D|uc002zgf.3,p.G637D|uc002zgd.2,p.G637D|ENST00000397850,p.G637D|ENST00000397852,p.G637D|ENST00000397854,p.G580D|NM_001127491,p.G637D|ENST00000302347,p.G637D|uc011afl.1,p.G559D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011afl.1	nonsynonymous SNV	exon14	c.G1676A	p.G559D	YISCAECLKFEKGPFGKNCSAACPG	YISCAECLKFEKDPFGKNCSAACPG	9.0	3.0	unscreened	-	3466_21:46308778-46308778 C>T_YISCAECLKFEKDPFGKNCSAACPG
8:145577100-145577100 G>A	1.0	3466	MELANOMA	-	-	-	-	TMEM249	ENST00000526263,p.S174L|NM_001252404,p.S174L|uc010mfw.3,p.S174L	retained_intron, protein_coding	uc010mfw.3	nonsynonymous SNV	exon4	c.C521T	p.S174L	LRLPGHLLPARGSPLATPWRWHCDG	LRLPGHLLPARGLPLATPWRWHCDG	2.0	8.0	unscreened	-	3466_8:145577100-145577100 G>A_LRLPGHLLPARGLPLATPWRWHCDG
14:74206620-74206620 G>A	1.0	3466	MELANOMA	-	-	-	-	ELMSAN1	uc001xou.3,p.P31L|ENST00000421708,p.P31L|ENST00000286523,p.P31L|NM_194278,p.P31L|uc001xot.3,p.P31L|NM_001043318,p.P31L|ENST00000423556,p.P31L|ENST00000435371,p.P31L|uc010tud.1,p.P31L|ENST00000394071,p.P31L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tud.1	nonsynonymous SNV	exon1	c.C92T	p.P31L	GGQEPAPKEQPPPLQPPQQSIRVKE	GGQEPAPKEQPPLLQPPQQSIRVKE	10.0	3.0	-	-	3466_14:74206620-74206620 G>A_GGQEPAPKEQPPLLQPPQQSIRVKE
X:105139459-105139459 C>T	0.0	3466	MELANOMA	-	-	-	-	NRK	ENST00000243300,p.H175Y|ENST00000428173,p.H175Y|uc004emd.3,p.H175Y|NM_198465,p.H175Y	protein_coding	uc004emd.3	nonsynonymous SNV	exon7	c.C523T	p.H175Y	QGLAHLHAHRVIHRDIKGQNVLLTH	QGLAHLHAHRVIYRDIKGQNVLLTH	1.0	9.0	unscreened	-	3466_X:105139459-105139459 C>T_QGLAHLHAHRVIYRDIKGQNVLLTH
19:49671637-49671637 C>T	1.0	3466	MELANOMA	-	-	-	-	TRPM4	ENST00000598502,p.P130S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000598502	nonsynonymous SNV	exon4	c.C388T	p.P130S	LGAPRWWPWVWPPGVWSGIETPSST	LGAPRWWPWVWPSGVWSGIETPSST	6.0	8.0	unscreened	-	3466_19:49671637-49671637 C>T_LGAPRWWPWVWPSGVWSGIETPSST
11:5969211-5969211 G>A	0.0	3466	MELANOMA	-	-	-	-	OR56A3	NM_001003443,p.G212E|ENST00000329564,p.G212E|uc010qzt.2,p.G212E	protein_coding	uc010qzt.2	nonsynonymous SNV	exon1	c.G635A	p.G212E	HLYQFAGGWTLLGSDLILIFLSYTF	HLYQFAGGWTLLESDLILIFLSYTF	1.0	3.0	unscreened	-	3466_11:5969211-5969211 G>A_HLYQFAGGWTLLESDLILIFLSYTF
21:37620862-37620862 C>T	1.0	3466	MELANOMA	-	-	-	-	DOPEY2	ENST00000399151,p.T1665I|uc002yvh.3,p.T516I|NM_005128,p.T1665I|uc011aeb.2,p.T1614I|uc002yvg.3,p.T1665I	retained_intron, protein_coding, processed_transcript	uc011aeb.2	nonsynonymous SNV	exon19	c.C4841T	p.T1614I	ATKGSSSVYFKTTKTIRQKILDFLN	ATKGSSSVYFKTIKTIRQKILDFLN	7.0	6.0	unscreened	-	3466_21:37620862-37620862 C>T_ATKGSSSVYFKTIKTIRQKILDFLN
1:8397890-8397890 G>A	1.0	3466	MELANOMA	-	-	-	-	SLC45A1	ENST00000471889,p.E538K|uc001apb.3,p.E538K|ENST00000377479,p.E572K|uc001apc.3,p.E236K|ENST00000289877,p.E538K|NM_001080397,p.E572K	retained_intron, protein_coding, processed_transcript	uc001apc.3	nonsynonymous SNV	exon3	c.G706A	p.E236K	LCVNHFLGWLSFEGMLLFYTDFMGE	LCVNHFLGWLSFKGMLLFYTDFMGE	2.0	8.0	unscreened	-	3466_1:8397890-8397890 G>A_LCVNHFLGWLSFKGMLLFYTDFMGE
1:97770838-97770838 C>T	1.0	3466	MELANOMA	-	-	-	-	DPYD	ENST00000370192,p.R759Q|NM_000110,p.R759Q|uc001drv.3,p.R759Q	protein_coding, processed_transcript	uc001drv.3	nonsynonymous SNV	exon18	c.G2276A	p.R759Q	DGTPWPAVGIAKRTTYGGVSGTAIR	DGTPWPAVGIAKQTTYGGVSGTAIR	9.0	1.0	-	-	3466_1:97770838-97770838 C>T_DGTPWPAVGIAKQTTYGGVSGTAIR
6:84417622-84417622 G>A	0.0	3466	MELANOMA	-	-	-	-	SNAP91	ENST00000521931,p.R9W|NM_014841,p.R9W|uc003pka.3,p.R9W|ENST00000437520,p.R9W|NM_001242793,p.R9W|ENST00000521616,p.R9W|ENST00000523484,p.R9W|ENST00000369694,p.R9W|ENST00000519779,p.R9W|ENST00000369690,p.R9W|ENST00000523585,p.R9W|ENST00000521743,p.R9W|uc021zcf.1,p.R9W|ENST00000195649,p.R9W|ENST00000519825,p.R9W|uc003pkd.3,p.R9W|ENST00000439399,p.R9W|ENST00000523199,p.R9W|ENST00000520302,p.R9W|ENST00000520213,p.R9W|ENST00000521485,p.R9W|ENST00000518312,p.R9W|uc011dze.2,p.R9W|NM_001242792,p.R9W|ENST00000518309,p.R9W|ENST00000428679,p.R9W|NM_001242794,p.R9W|uc003pkc.3,p.R9W|ENST00000522248,p.R9W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zcf.1	nonsynonymous SNV	exon1	c.C25T	p.R9W	MSGQTLTDRIAAAQYSVTGSA	MSGQTLTDWIAAAQYSVTGSA	1.0	9.0	unscreened	-	3466_6:84417622-84417622 G>A_MSGQTLTDWIAAAQYSVTGSA
1:247695603-247695603 C>T	0.0	3466	MELANOMA	-	-	-	-	OR2C3	NM_198074,p.D71N|uc009xgy.3,p.D71N	protein_coding	uc009xgy.3	nonsynonymous SNV	exon2	c.G211A	p.D71N	PMYFFLANLSFLDMSFTTSIVPQLL	PMYFFLANLSFLNMSFTTSIVPQLL	1.0	3.0	unscreened	-	3466_1:247695603-247695603 C>T_PMYFFLANLSFLNMSFTTSIVPQLL
1:225446831-225446831 G>A, 1:225446832-225446832 G>T	0.0	3466	MELANOMA	-	-	-	-	DNAH14	ENST00000430092,p.G2339S|NM_001373,p.G2339S|uc001how.2,p.G2339S|ENST00000439375,p.G2339S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001how.2	nonsynonymous SNV	exon46	c.G7015A	p.G2339S	KNSCPVLLTGESGVGKTAAINQMLE	KNSCPVLLTGESIVGKTAAINQMLE	7.0	1.0	unscreened	Dinucleotide variant, 1:225446832-225446832 G>T, residue 13 G>I PR	3466_1:225446831-225446831 G>A, 1:225446832-225446832 G>T_KNSCPVLLTGESIVGKTAAINQMLE
11:5068368-5068368 G>A	0.0	3466	MELANOMA	-	-	-	-	OR52J3	NM_001001916,p.V205I|ENST00000380370,p.V205I|uc010qyv.2,p.V205I	protein_coding	uc010qyv.2	nonsynonymous SNV	exon1	c.G613A	p.V205I	NIRINGIYGLFVVSFFVLNLVLIGI	NIRINGIYGLFVISFFVLNLVLIGI	1.0	2.0	unscreened	-	3466_11:5068368-5068368 G>A_NIRINGIYGLFVISFFVLNLVLIGI
16:77353924-77353924 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1709430;OCCURENCE=1(skin)	-	ADAMTS18	uc002ffc.4,p.S785F|uc002ffe.1,p.S481F|NM_199355,p.S785F|uc010chc.1,p.S373F|ENST00000282849,p.S785F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010chc.1	nonsynonymous SNV	exon11	c.C1118T	p.S373F	GARSIEIQELQVSSSYLAVRSLSQK	GARSIEIQELQVFSSYLAVRSLSQK	1.0	2.0	unscreened	-	3466_16:77353924-77353924 G>A_GARSIEIQELQVFSSYLAVRSLSQK
6:49604372-49604372 G>A	0.0	3466	MELANOMA	-	-	-	-	RHAG	ENST00000371175,p.P52S|NM_000324,p.P52S|uc003ozk.4,p.P52S|uc010jzm.3,p.P52S|ENST00000229810,p.P52S|uc010jzl.3,p.P52S	protein_coding	uc010jzm.3	nonsynonymous SNV	exon1	c.C154T	p.P52S	KPTDMGIFFELYPLFQDVHVMIFVG	KPTDMGIFFELYSLFQDVHVMIFVG	1.0	9.0	unscreened	-	3466_6:49604372-49604372 G>A_KPTDMGIFFELYSLFQDVHVMIFVG
12:10532344-10532344 G>A	0.0	3466	MELANOMA	0.0014	-	-	-	KLRC4-KLRK1,KLRK1	ENST00000540818,p.R66C|uc001qyd.3,p.R66C|uc009zhj.3,p.R66C|uc001qyc.3,p.R66C|ENST00000396451,p.R66C|uc009zhk.3,p.R66C|NM_001199805,p.R66C|ENST00000240618,p.R66C|NM_007360,p.R66C	retained_intron, protein_coding, nonsense_mediated_decay	uc009zhk.3	nonsynonymous SNV	exon9	c.C196T	p.R66C	FFCCFIAVAMGIRFIIMVTIWSAVF	FFCCFIAVAMGICFIIMVTIWSAVF	6.0	6.0	unscreened	-	3466_12:10532344-10532344 G>A_FFCCFIAVAMGICFIIMVTIWSAVF
X:36397505-36397505 G>A	0.0	3466	MELANOMA	-	-	-	-	CXorf30	ENST00000378657,p.D522N|ENST00000378653,p.D807N|ENST00000446478,p.D127N|NM_001098843,p.D522N|uc011mkc.3,p.D522N	protein_coding	uc011mkc.3	nonsynonymous SNV	exon18	c.G1564A	p.D522N	PEPFTAHFLPGSDLEFFVKPQAGEL	PEPFTAHFLPGSNLEFFVKPQAGEL	1.0	9.0	unscreened	-	3466_X:36397505-36397505 G>A_PEPFTAHFLPGSNLEFFVKPQAGEL
2:179197709-179197709 C>T	1.0	3466	MELANOMA	-	-	-	-	OSBPL6	uc002ulw.3,p.P200S|NM_001201482,p.P200S|uc002ulz.3,p.P200S|ENST00000315022,p.P179S|ENST00000359685,p.P200S|ENST00000392505,p.P200S|uc010zfe.2,p.P200S|NM_032523,p.P200S|uc002ulx.3,p.P200S|ENST00000357080,p.P200S|ENST00000409045,p.P200S|NM_001201481,p.P200S|ENST00000190611,p.P200S|ENST00000409631,p.P200S|NM_001201480,p.P200S|NM_145739,p.P179S|uc002uly.3,p.P200S|uc002uma.3,p.P179S	protein_coding, processed_transcript	uc010zfe.2	nonsynonymous SNV	exon8	c.C598T	p.P200S	VRSPRDASFHIFPSTSTAESSPAAN	VRSPRDASFHIFSSTSTAESSPAAN	5.0	2.0	unscreened	-	3466_2:179197709-179197709 C>T_VRSPRDASFHIFSSTSTAESSPAAN
10:15256038-15256038 C>T	1.0	3466	MELANOMA	-	-	-	-	FAM171A1	uc001iob.3,p.E517K|NM_001010924,p.E517K|ENST00000378116,p.E517K	protein_coding, processed_transcript	uc001iob.3	nonsynonymous SNV	exon8	c.G1549A	p.E517K	GPASTGSKLTIQEHLYPAPSSPEKE	GPASTGSKLTIQKHLYPAPSSPEKE	8.0	2.0	-	-	3466_10:15256038-15256038 C>T_GPASTGSKLTIQKHLYPAPSSPEKE
2:31000441-31000441 C>T	0.0	3466	MELANOMA	-	-	-	-	CAPN13	ENST00000485248,p.G88E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000485248	nonsynonymous SNV	exon4	c.G263A	p.G88E	ILDDISRFDIQQGGAVLAMWPVGGS	ILDDISRFDIQQEGAVLAMWPVGGS	1.0	7.0	unscreened	-	3466_2:31000441-31000441 C>T_ILDDISRFDIQQEGAVLAMWPVGGS
19:50040341-50040341 C>T	0.0	3466	MELANOMA	-	-	-	-	RCN3	NM_020650,p.A166V|ENST00000598833,p.A115V|ENST00000270645,p.A166V|uc002poj.3,p.A166V	protein_coding, processed_transcript	uc002poj.3	nonsynonymous SNV	exon4	c.C497T	p.A166V	DVEDAETYKKMLARDERRFRVADQD	DVEDAETYKKMLVRDERRFRVADQD	6.0	3.0	unscreened	-	3466_19:50040341-50040341 C>T_DVEDAETYKKMLVRDERRFRVADQD
13:52656439-52656439 G>A	0.0	3466	MELANOMA	-	-	-	-	NEK5	uc001vge.3,p.R528C|ENST00000355568,p.R528C|NM_199289,p.R528C	protein_coding, processed_transcript, nonsense_mediated_decay	uc001vge.3	nonsynonymous SNV	exon18	c.C1582T	p.R528C	ASEGEAPVQMEFRSCCPGWSAMARS	ASEGEAPVQMEFCSCCPGWSAMARS	1.0	9.0	unscreened	-	3466_13:52656439-52656439 G>A_ASEGEAPVQMEFCSCCPGWSAMARS
1:26524455-26524455 C>T	0.0	3466	MELANOMA	-	-	ID=COSM225948;OCCURENCE=1(skin),1(NS),1(upper_aerodigestive_tract)	-	CATSPER4	uc010oey.1,p.R11C	protein_coding, nonsense_mediated_decay	uc010oey.1	nonsynonymous SNV	exon4	c.C31T	p.R11C	MASGFSGRALRLVHVCMAVEPLA	MASGFSGRALCLVHVCMAVEPLA	1.0	1.0	unscreened	-	3466_1:26524455-26524455 C>T_MASGFSGRALCLVHVCMAVEPLA
4:69535816-69535816 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1056875;OCCURENCE=2(endometrium),1(large_intestine)	-	UGT2B15	ENST00000338206,p.R174Q|NM_001076,p.R174Q|uc021xow.1,p.R174Q	protein_coding	uc021xow.1	nonsynonymous SNV	exon1	c.G521A	p.R174Q	AELFNIPFLYSLRFSVGYTFEKNGG	AELFNIPFLYSLQFSVGYTFEKNGG	1.0	5.0	unscreened	-	3466_4:69535816-69535816 C>T_AELFNIPFLYSLQFSVGYTFEKNGG
7:83014699-83014699 T>C	1.0	3466	MELANOMA	-	-	-	-	SEMA3E	ENST00000427262,p.N536D|NM_001178129,p.N536D|uc003uhy.2,p.N596D|NM_012431,p.N596D|ENST00000307792,p.N596D|uc022agy.1,p.N536D	protein_coding, nonsense_mediated_decay	uc022agy.1	nonsynonymous SNV	exon16	c.A1606G	p.N536D	KTEEHLAYGIENNSTLLECTPRSLQ	KTEEHLAYGIENDSTLLECTPRSLQ	4.0	9.0	unscreened	-	3466_7:83014699-83014699 T>C_KTEEHLAYGIENDSTLLECTPRSLQ
8:22078982-22078982 C>T	0.0	3466	MELANOMA	-	-	-	-	PHYHIP	ENST00000454243,p.D293N|uc003xbj.4,p.D293N|NM_001099335,p.D293N|ENST00000321613,p.D293N|uc003xbk.4,p.D293N|NM_014759,p.D293N	retained_intron, protein_coding	uc003xbk.4	nonsynonymous SNV	exon6	c.G877A	p.D293N	DLILEIIYTEPVDLSLGTLGEISGH	DLILEIIYTEPVNLSLGTLGEISGH	2.0	1.0	unscreened	-	3466_8:22078982-22078982 C>T_DLILEIIYTEPVNLSLGTLGEISGH
2:103281626-103281626 G>A	0.0	3466	MELANOMA	-	-	-	-	SLC9A2	NM_003048,p.G274E|ENST00000233969,p.G274E|uc002tca.3,p.G274E	retained_intron, protein_coding, processed_transcript	uc002tca.3	nonsynonymous SNV	exon3	c.G821A	p.G274E	QMKTIETIDVFAGIANFFVVGIGGV	QMKTIETIDVFAEIANFFVVGIGGV	1.0	4.0	unscreened	-	3466_2:103281626-103281626 G>A_QMKTIETIDVFAEIANFFVVGIGGV
21:28338257-28338257 G>A	1.0	3466	MELANOMA	-	-	-	-	ADAMTS5	NM_007038,p.L152F|uc002ymg.3,p.L152F|ENST00000284987,p.L152F	protein_coding	uc002ymg.3	nonsynonymous SNV	exon1	c.C454T	p.L152F	PRSLAVFDLCGGLDGFFAVKHARYT	PRSLAVFDLCGGFDGFFAVKHARYT	4.0	8.0	unscreened	-	3466_21:28338257-28338257 G>A_PRSLAVFDLCGGFDGFFAVKHARYT
12:58131665-58131665 G>A	0.0	3466	MELANOMA	-	-	-	-	AGAP2	NM_001122772,p.P122L|ENST00000547588,p.P122L|uc001spp.3,p.P122L|uc001spq.3,p.P122L	protein_coding	uc001spq.3	nonsynonymous SNV	exon1	c.C365T	p.P122L	RRLSLWAVPPGPPLSGGLSPDPKPG	RRLSLWAVPPGPLLSGGLSPDPKPG	3.0	9.0	unscreened	-	3466_12:58131665-58131665 G>A_RRLSLWAVPPGPLLSGGLSPDPKPG
10:21959627-21959627 C>T	1.0	3466	MELANOMA	-	-	-	1	MLLT10	ENST00000438473,p.P89S	protein_coding, processed_transcript	ENST00000438473	nonsynonymous SNV	exon2	c.C265T	p.P89S	NPGTTVSAASPFPQAGYKRAQTSGI	NPGTTVSAASPFSQAGYKRAQTSGI	8.0	5.0	unscreened	-	3466_10:21959627-21959627 C>T_NPGTTVSAASPFSQAGYKRAQTSGI
11:9101015-9101015 G>A	0.0	3466	MELANOMA	-	-	-	-	SCUBE2	ENST00000457346,p.H100Y|ENST00000520467,p.H100Y|uc001mhj.2,p.H100Y|NM_001170690,p.H100Y|NM_020974,p.H100Y|uc001mhi.2,p.H100Y|ENST00000309263,p.H100Y|ENST00000450649,p.H100Y	retained_intron, protein_coding, processed_transcript	uc001mhj.2	nonsynonymous SNV	exon3	c.C298T	p.H100Y	DECGNELNGGCVHDCLNIPGNYRCT	DECGNELNGGCVYDCLNIPGNYRCT	1.0	3.0	unscreened	-	3466_11:9101015-9101015 G>A_DECGNELNGGCVYDCLNIPGNYRCT
21:27852593-27852593 G>A	0.0	3466	MELANOMA	-	-	-	-	CYYR1	NM_052954,p.P111L|ENST00000299340,p.P111L|uc002ymd.3,p.P111L	protein_coding	uc002ymd.3	nonsynonymous SNV	exon3	c.C332T	p.P111L	LRTTHINTVSSYPGPPPYGHDHEME	LRTTHINTVSSYLGPPPYGHDHEME	4.0	1.0	unscreened	-	3466_21:27852593-27852593 G>A_LRTTHINTVSSYLGPPPYGHDHEME
12:80749668-80749668 G>A	1.0	3466	MELANOMA	-	-	-	-	OTOGL	ENST00000547103,p.E1895K|NM_173591,p.E1907K|uc001szd.3,p.E1907K|ENST00000458043,p.E1907K	protein_coding, nonsense_mediated_decay	uc001szd.3	nonsynonymous SNV	exon46	c.G5719A	p.E1907K	DCDEEPTPVCEREAEVVMGIIDKWT	DCDEEPTPVCERKAEVVMGIIDKWT	5.0	9.0	unscreened	-	3466_12:80749668-80749668 G>A_DCDEEPTPVCERKAEVVMGIIDKWT
5:151304088-151304088 C>T	0.0	3466	MELANOMA	-	-	-	-	GLRA1	ENST00000462581,p.R8Q	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000462581	nonsynonymous SNV	exon1	c.G23A	p.R8Q	MYSFNTLRLYLWETIVFFRS	MYSFNTLQLYLWETIVFFRS	1.0	9.0	unscreened	-	3466_5:151304088-151304088 C>T_MYSFNTLQLYLWETIVFFRS
7:1523383-1523383 G>A	1.0	3466	MELANOMA	-	-	-	-	INTS1	uc003skp.1,p.P526L	retained_intron, protein_coding, processed_transcript	uc003skp.1	nonsynonymous SNV	exon12	c.C1577T	p.P526L	VHAMVILLTLGPPRGEPPQAPGGAA	VHAMVILLTLGPLRGEPPQAPGGAA	7.0	8.0	unscreened	-	3466_7:1523383-1523383 G>A_VHAMVILLTLGPLRGEPPQAPGGAA
16:72184580-72184580 G>A	0.0	3466	MELANOMA	-	-	-	-	PMFBP1	NM_031293,p.S188F|ENST00000537465,p.S188F|uc002fcd.3,p.S188F|ENST00000355636,p.S43F|NM_001160213,p.S43F|uc002fcf.3,p.S43F|ENST00000237353,p.S188F|uc002fcc.4,p.S188F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002fcf.3	nonsynonymous SNV	exon6	c.C128T	p.S43F	RSLNLYRDKYQSSLSNIELLECQVK	RSLNLYRDKYQSFLSNIELLECQVK	1.0	7.0	unscreened	-	3466_16:72184580-72184580 G>A_RSLNLYRDKYQSFLSNIELLECQVK
7:82390684-82390684 G>A	0.0	3466	MELANOMA	-	-	-	-	PCLO	uc003uhx.2,p.H5045Y|NM_033026,p.H5045Y|ENST00000333891,p.H5045Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon23	c.C15133T	p.H5045Y	CRNITYKFKSPDHLPDLYVKIYVMN	CRNITYKFKSPDYLPDLYVKIYVMN	1.0	8.0	unscreened	-	3466_7:82390684-82390684 G>A_CRNITYKFKSPDYLPDLYVKIYVMN
19:9068901-9068901 C>T	0.0	3466	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.G6182E|NM_024690,p.G6182E|ENST00000397910,p.G6182E	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.G18545A	p.G6182E	LTLDTSTIATSAGTPSARTQDFVDS	LTLDTSTIATSAETPSARTQDFVDS	1.0	3.0	unscreened	-	3466_19:9068901-9068901 C>T_LTLDTSTIATSAETPSARTQDFVDS
19:50040341-50040341 C>T	0.0	3466	MELANOMA	-	-	-	-	RCN3	ENST00000597801,p.L135F	protein_coding, processed_transcript	ENST00000597801	nonsynonymous SNV	exon4	c.C403T	p.L135F	TWRMQRPTKRCWLGTSGVSGWPTRM	TWRMQRPTKRCWFGTSGVSGWPTRM	6.0	3.0	unscreened	-	3466_19:50040341-50040341 C>T_TWRMQRPTKRCWFGTSGVSGWPTRM
14:52496286-52496286 C>T	1.0	3466	MELANOMA	-	-	-	-	NID2	NM_007361,p.G794R|ENST00000541773,p.G741R|uc001wzp.3,p.G794R|uc001wzo.3,p.G794R|ENST00000216286,p.G794R|uc010tqs.2,p.G794R|uc010tqt.1,p.G794R	retained_intron, protein_coding	uc010tqt.1	nonsynonymous SNV	exon10	c.G2380A	p.G794R	VDYTCECASGYQGDGRNCVDENECA	VDYTCECASGYQRDGRNCVDENECA	9.0	3.0	unscreened	-	3466_14:52496286-52496286 C>T_VDYTCECASGYQRDGRNCVDENECA
10:21129735-21129735 C>T	0.0	3466	MELANOMA	-	-	-	-	NEBL	NM_006393,p.G424E|ENST00000377122,p.G424E|uc001iqi.3,p.G424E	retained_intron, protein_coding, processed_transcript	uc001iqi.3	nonsynonymous SNV	exon13	c.G1271A	p.G424E	YKKDLENEIKGKGMELNSEVLDIQR	YKKDLENEIKGKEMELNSEVLDIQR	2.0	6.0	unscreened	-	3466_10:21129735-21129735 C>T_YKKDLENEIKGKEMELNSEVLDIQR
19:10449579-10449579 G>A	0.0	3466	MELANOMA	-	-	-	-	ICAM3	NM_002162,p.P41L|ENST00000160262,p.P41L|uc002mob.2,p.P41L	retained_intron, protein_coding, nonsense_mediated_decay	uc002mob.2	nonsynonymous SNV	exon2	c.C122T	p.P41L	GQEFLLRVEPQNPVLSAGGSLFVNC	GQEFLLRVEPQNLVLSAGGSLFVNC	4.0	8.0	-	-	3466_19:10449579-10449579 G>A_GQEFLLRVEPQNLVLSAGGSLFVNC
17:10427974-10427974 G>A	0.0	3466	MELANOMA	-	-	-	-	MYH2	NM_017534,p.H1662Y|NM_001100112,p.H1662Y|ENST00000397183,p.H1662Y|uc002gmp.4,p.H1662Y|ENST00000245503,p.H1662Y|uc010coi.3,p.H1662Y	protein_coding	uc010coi.3	nonsynonymous SNV	exon35	c.C4984T	p.H1662Y	RNTQGILKDTQIHLDDALRSQEDLK	RNTQGILKDTQIYLDDALRSQEDLK	4.0	9.0	unscreened	-	3466_17:10427974-10427974 G>A_RNTQGILKDTQIYLDDALRSQEDLK
1:154062046-154062046 G>A	0.0	3466	MELANOMA	-	-	-	-	NUP210L	NM_207308,p.H738Y|NM_001159484,p.H738Y|uc010peh.2,p.H738Y|ENST00000271854,p.H738Y|ENST00000368559,p.H738Y|uc001fdw.3,p.H738Y	protein_coding	uc010peh.2	nonsynonymous SNV	exon16	c.C2212T	p.H738Y	LGEQVLTFRIGNHPGVLNPSPAVEV	LGEQVLTFRIGNYPGVLNPSPAVEV	1.0	3.0	unscreened	-	3466_1:154062046-154062046 G>A_LGEQVLTFRIGNYPGVLNPSPAVEV
9:139400027-139400027 G>A	1.0	3466	MELANOMA	-	-	-	1	NOTCH1	uc004cia.1,p.P671S|uc004chz.3,p.P1441S|ENST00000277541,p.P1441S|NM_017617,p.P1441S	protein_coding, processed_transcript	uc004cia.1	nonsynonymous SNV	exon12	c.C2011T	p.P671S	DYSFGGGAGRDIPPPLIEEACELPE	DYSFGGGAGRDISPPLIEEACELPE	8.0	9.0	-	-	3466_9:139400027-139400027 G>A_DYSFGGGAGRDISPPLIEEACELPE
11:2439558-2439558 G>A	0.0	3466	MELANOMA	-	-	-	-	TRPM5	NM_014555,p.P249S|uc009ydn.3,p.P251S|ENST00000533060,p.P249S|uc010qxl.2,p.P249S|ENST00000533881,p.P243S|ENST00000452833,p.P251S|ENST00000155858,p.P249S|uc001lwm.4,p.P249S|ENST00000528453,p.P249S	protein_coding	uc010qxl.2	nonsynonymous SNV	exon6	c.C745T	p.P249S	LERISRAVEQAAPWLILAGSGGIAD	LERISRAVEQAASWLILAGSGGIAD	1.0	6.0	unscreened	Snp within 36 nucleotides, 11:2439542-2439542 A>G, residue 18 V>A PR	3466_11:2439558-2439558 G>A_LERISRAVEQAASWLILAGSGGIAD
4:68930513-68930513 C>T, 4:68930547-68930547 C>T	0.0	3466	MELANOMA	-	-	-	-	TMPRSS11F	uc003hdt.1,p.E291K|ENST00000356291,p.E291K|NM_207407,p.E291K	protein_coding	uc003hdt.1	nonsynonymous SNV	exon8	c.G871A	p.E291K	IILHENYHRETNENDIALVQLSTGVEFSNIVQRVCL	IILHENYHRETNKNDIALVQLSTEVEFSNIVQRVCL	1.0	5.0	unscreened	Additional variant within 36 nucleotides, 4:68930513-68930513 C>T, residue 24 G>E PR	3466_4:68930513-68930513 C>T, 4:68930547-68930547 C>T_IILHENYHRETNKNDIALVQLSTEVEFSNIVQRVCL
15:100211658-100211658 C>T	0.0	3466	MELANOMA	-	-	-	-	MEF2A	uc010urv.2,p.P62L|uc002bvg.3,p.P130L|ENST00000453228,p.P130L|ENST00000557785,p.P130L|ENST00000557942,p.P130L|NM_001130926,p.P130L|NM_001130927,p.P62L|NM_001130928,p.P62L|uc002bvi.3,p.P130L|uc010bot.3,p.P62L|NM_001171894,p.P130L|ENST00000449277,p.P62L|ENST00000558812,p.P62L|uc002bve.3,p.P130L|uc010bos.3,p.P130L|ENST00000338042,p.P130L	retained_intron, protein_coding, processed_transcript	uc010urv.2	nonsynonymous SNV	exon3	c.C185T	p.P62L	LNEDSDFIFKRGPPGLPPQNFSMSV	LNEDSDFIFKRGLPGLPPQNFSMSV	9.0	1.0	unscreened	-	3466_15:100211658-100211658 C>T_LNEDSDFIFKRGLPGLPPQNFSMSV
1:158368893-158368893 C>T	0.0	3466	MELANOMA	-	-	-	-	OR10T2	uc010pih.2,p.D122N|ENST00000334438,p.D122N|NM_001004475,p.D122N	protein_coding	uc010pih.2	nonsynonymous SNV	exon1	c.G364A	p.D122N	CTNCLLIAVMGYDRYVAICHPLRYT	CTNCLLIAVMGYNRYVAICHPLRYT	1.0	4.0	unscreened	-	3466_1:158368893-158368893 C>T_CTNCLLIAVMGYNRYVAICHPLRYT
7:111428797-111428797 C>T	0.0	3466	MELANOMA	-	-	-	-	DOCK4	uc011kmm.2,p.A6T|ENST00000417165,p.A6T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kmm.2	nonsynonymous SNV	exon1	c.G16A	p.A6T	MFQVEAKLIDKLDSLMSE	MFQVETKLIDKLDSLMSE	7.0	1.0	unscreened	-	3466_7:111428797-111428797 C>T_MFQVETKLIDKLDSLMSE
6:117622219-117622219 T>A	0.0	3466	MELANOMA	-	-	-	1	ROS1	uc003pxp.1,p.L2217F|ENST00000368508,p.L2217F|NM_002944,p.L2217F|ENST00000368507,p.L2211F	protein_coding	uc003pxp.1	nonsynonymous SNV	exon42	c.A6651T	p.L2217F	RPTFHRIQDQLQLFRNFFLNSIYKS	RPTFHRIQDQLQFFRNFFLNSIYKS	1.0	9.0	unscreened	-	3466_6:117622219-117622219 T>A_RPTFHRIQDQLQFFRNFFLNSIYKS
11:123601340-123601340 A>G	0.0	3466	MELANOMA	-	-	-	-	ZNF202	ENST00000529691,p.L86P|NM_001301779,p.L86P|NM_001301780,p.L86P|ENST00000530393,p.L86P|ENST00000533463,p.L86P|uc001pzd.1,p.L86P|uc001pze.1,p.L86P|NM_003455,p.L86P|uc001pzf.1,p.L86P|ENST00000336139,p.L86P	protein_coding, processed_transcript	uc001pzf.1	nonsynonymous SNV	exon2	c.T257C	p.L86P	WLRPERRTKEQILELLVLEQFLTVL	WLRPERRTKEQIPELLVLEQFLTVL	5.0	4.0	unscreened	-	3466_11:123601340-123601340 A>G_WLRPERRTKEQIPELLVLEQFLTVL
7:86522395-86522395 C>T	0.0	3466	MELANOMA	-	-	-	-	KIAA1324L	ENST00000450689,p.E903K|ENST00000297222,p.E663K|uc011kgz.2,p.E789K|uc003uif.2,p.E655K|NM_152748,p.E736K|uc003uie.3,p.E736K|NM_001291991,p.E663K|NM_001142749,p.E903K|NM_001291990,p.E789K|uc011kha.2,p.E903K|ENST00000416314,p.E736K|ENST00000444627,p.E832K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kha.2	nonsynonymous SNV	exon20	c.G2707A	p.E903K	KRGFQETLYVWNEPKWCIKGISLPE	KRGFQETLYVWNKPKWCIKGISLPE	5.0	1.0	unscreened	-	3466_7:86522395-86522395 C>T_KRGFQETLYVWNKPKWCIKGISLPE
14:42356261-42356261 G>A	0.0	3466	MELANOMA	-	-	-	-	LRFN5	uc010ana.3,p.D145N|ENST00000298119,p.D145N|NM_152447,p.D145N|ENST00000554120,p.D145N|ENST00000554171,p.D145N|uc001wvm.3,p.D145N	protein_coding, processed_transcript	uc010ana.3	nonsynonymous SNV	exon5	c.G433A	p.D145N	NQLTLISSTAFDDVFALEELDLSYN	NQLTLISSTAFDNVFALEELDLSYN	1.0	5.0	unscreened	-	3466_14:42356261-42356261 G>A_NQLTLISSTAFDNVFALEELDLSYN
19:49399702-49399702 G>A	0.0	3466	MELANOMA	-	-	-	-	TULP2	ENST00000518572,p.L66F	retained_intron, protein_coding	ENST00000518572	nonsynonymous SNV	exon4	c.C196T	p.L66F	PWLWRSCLREERLLGDRVFRNLGLQ	PWLWRSCLREERFLGDRVFRNLGLQ	1.0	8.0	unscreened	-	3466_19:49399702-49399702 G>A_PWLWRSCLREERFLGDRVFRNLGLQ
5:151304088-151304088 C>T	0.0	3466	MELANOMA	-	-	-	-	GLRA1	ENST00000274576,p.R8Q|NM_001146040,p.R8Q|uc003lur.3,p.R8Q|NM_000171,p.R8Q|uc003lut.3,p.R8Q|ENST00000455880,p.R8Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc003lut.3	nonsynonymous SNV	exon1	c.G23A	p.R8Q	MYSFNTLRLYLWETIVFFSL	MYSFNTLQLYLWETIVFFSL	1.0	9.0	unscreened	-	3466_5:151304088-151304088 C>T_MYSFNTLQLYLWETIVFFSL
4:85695995-85695995 G>A	0.0	3466	MELANOMA	-	-	-	-	WDFY3	uc003hpd.3,p.P1578S|ENST00000295888,p.P1578S|ENST00000322366,p.P1578S|NM_014991,p.P1578S	retained_intron, protein_coding, processed_transcript	uc003hpd.3	nonsynonymous SNV	exon29	c.C4732T	p.P1578S	ISNVLSFLLQGFPSSNDLLRFGQFI	ISNVLSFLLQGFSSSNDLLRFGQFI	8.0	4.0	-	-	3466_4:85695995-85695995 G>A_ISNVLSFLLQGFSSSNDLLRFGQFI
10:30317681-30317681 C>T	1.0	3466	MELANOMA	-	-	-	-	KIAA1462	uc001iux.3,p.G466R|ENST00000375377,p.G466R|uc001iuz.3,p.G328R|NM_020848,p.G466R|uc009xle.2,p.G466R	protein_coding, processed_transcript	uc009xle.2	nonsynonymous SNV	exon3	c.G1396A	p.G466R	NSSPVTAQEPAHGGMQPDGAIWNPQ	NSSPVTAQEPAHRGMQPDGAIWNPQ	6.0	6.0	unscreened	-	3466_10:30317681-30317681 C>T_NSSPVTAQEPAHRGMQPDGAIWNPQ
6:55128600-55128600 C>T	0.0	3466	MELANOMA	-	-	ID=COSM222105;OCCURENCE=2(skin)	-	HCRTR2	uc003pcl.3,p.R248C|ENST00000370862,p.R248C|NM_001526,p.R248C	protein_coding	uc003pcl.3	nonsynonymous SNV	exon4	c.C742T	p.R248C	LCLMVLAYLQIFRKLWCRQIPGTSS	LCLMVLAYLQIFCKLWCRQIPGTSS	1.0	1.0	unscreened	-	3466_6:55128600-55128600 C>T_LCLMVLAYLQIFCKLWCRQIPGTSS
1:152059889-152059889 G>A	0.0	3466	MELANOMA	-	-	-	-	TCHHL1	uc001ezo.1,p.S90L|ENST00000368806,p.S90L|NM_001008536,p.S90L	protein_coding	uc001ezo.1	nonsynonymous SNV	exon3	c.C269T	p.S90L	FNLLNLCYLDIKSLLSSELRQVTKP	FNLLNLCYLDIKLLLSSELRQVTKP	1.0	3.0	unscreened	-	3466_1:152059889-152059889 G>A_FNLLNLCYLDIKLLLSSELRQVTKP
12:95926636-95926636 T>-	0.0	3466	MELANOMA	-	-	-	-	USP44	ENST00000552440,p.N466fs	retained_intron, protein_coding, processed_transcript	ENST00000552440	frameshift deletion	exon1	c.1397delA	p.N466fs	QRKLIKQVLNVVNNIFHGQLLSQQS	QRKLIKQVLNVVITFFMDNFLVSKA	1.0	1.0	unscreened	-	3466_12:95926636-95926636 T>-_QRKLIKQVLNVVITFFMDNFLVSKA
14:72190579-72190579 C>T	1.0	3466	MELANOMA	-	-	ID=COSM224470;OCCURENCE=1(skin)	-	SIPA1L1	NM_001284245,p.S1475F|ENST00000555818,p.S1496F|ENST00000358550,p.S1475F|NM_001284247,p.S1496F|NM_015556,p.S1496F|uc001xmu.3,p.S1475F|uc001xms.3,p.S1496F|ENST00000381232,p.S1475F|uc001xmt.3,p.S1475F|uc001xmv.3,p.S1496F|uc010ttm.2,p.S950F|ENST00000537413,p.S950F|NM_001284246,p.S1475F	retained_intron, protein_coding, processed_transcript	uc010ttm.2	nonsynonymous SNV	exon14	c.C2849T	p.S950F	LIGWKKPEGTINSVGFMDTRKRHQS	LIGWKKPEGTINFVGFMDTRKRHQS	10.0	5.0	-	-	3466_14:72190579-72190579 C>T_LIGWKKPEGTINFVGFMDTRKRHQS
11:60785429-60785429 C>T	0.0	3466	MELANOMA	-	-	-	-	CD6	uc001nqt.3,p.S553F|NM_006725,p.S594F|ENST00000344028,p.S562F|ENST00000452451,p.S553F|ENST00000346437,p.S521F|uc001nqp.3,p.S594F|uc001nqq.3,p.S594F|ENST00000352009,p.S562F|ENST00000313421,p.S594F|NM_001254751,p.S553F|NM_001254750,p.S562F|uc001nqr.3,p.S562F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001nqt.3	nonsynonymous SNV	exon10	c.C1658T	p.S553F	PWNPQVFSSERSSFLEQPPNLELAG	PWNPQVFSSERSFFLEQPPNLELAG	5.0	6.0	unscreened	-	3466_11:60785429-60785429 C>T_PWNPQVFSSERSFFLEQPPNLELAG
2:234545194-234545194 C>T	0.0	3466	MELANOMA	-	-	-	-	UGT1A10	uc002vur.3,p.P9L|ENST00000373445,p.P9L|NM_019075,p.P9L|uc002vuq.3,p.P9L|ENST00000344644,p.P9L	protein_coding	uc002vur.3	nonsynonymous SNV	exon1	c.C26T	p.P9L	MARAGWTSPVPLCVCLLLTCG	MARAGWTSLVPLCVCLLLTCG	1.0	6.0	unscreened	-	3466_2:234545194-234545194 C>T_MARAGWTSLVPLCVCLLLTCG
19:11577593-11577593 G>A	0.0	3466	MELANOMA	-	-	-	-	ELAVL3	uc002mry.1,p.P20L|NM_032281,p.P20L|ENST00000588853,p.P20L|uc002mrx.1,p.P20L|ENST00000359227,p.P20L|NM_001420,p.P20L|ENST00000438662,p.P20L	 processed_transcript,nonsense_mediated_decay,protein_coding	uc002mry.1	nonsynonymous SNV	exon2	c.C59T	p.P20L	AMESQVGGGPAGPALPNGPLLGTNG	AMESQVGGGPAGLALPNGPLLGTNG	1.0	2.0	unscreened	-	3466_19:11577593-11577593 G>A_AMESQVGGGPAGLALPNGPLLGTNG
11:5411517-5411517 C>T	0.0	3466	MELANOMA	-	-	-	-	OR51M1	ENST00000328611,p.P297S|uc010qzc.2,p.P297S|NM_001004756,p.P297S	protein_coding	uc010qzc.2	nonsynonymous SNV	exon1	c.C889T	p.P297S	HLLMANVYLFVPPMLNPIIYSIKTK	HLLMANVYLFVPSMLNPIIYSIKTK	1.0	7.0	unscreened	-	3466_11:5411517-5411517 C>T_HLLMANVYLFVPSMLNPIIYSIKTK
12:18858129-18858129 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1511514;OCCURENCE=1(lung)	-	PLCZ1	uc001rdw.5,p.D20N|uc001rdu.2,p.D20N|ENST00000541695,p.D142N|ENST00000538330,p.D20N|ENST00000539875,p.D86N|ENST00000447925,p.D277N|uc001rdv.5,p.D175N|ENST00000539072,p.D106N|uc021qvx.2,p.D279N|ENST00000435379,p.D84N|ENST00000543242,p.D20N|ENST00000266505,p.D279N|NM_033123,p.D279N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qvx.2	nonsynonymous SNV	exon7	c.G835A	p.D279N	TFGESLLSDMLDDFPDTLPSPEALK	TFGESLLSDMLDNFPDTLPSPEALK	1.0	5.0	unscreened	-	3466_12:18858129-18858129 C>T_TFGESLLSDMLDNFPDTLPSPEALK
5:32444417-32444417 C>T	1.0	3466	MELANOMA	-	-	-	-	ZFR	uc003jhr.1,p.E19K|uc010iun.1,p.E19K|NM_016107,p.E19K|ENST00000265069,p.E19K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010iun.1	nonsynonymous SNV	exon2	c.G55A	p.E19K	VVSFTYVPSRLGEDAKMATGNYFGF	VVSFTYVPSRLGKDAKMATGNYFGF	9.0	7.0	unscreened	-	3466_5:32444417-32444417 C>T_VVSFTYVPSRLGKDAKMATGNYFGF
19:40430417-40430417 G>A	0.0	3466	MELANOMA	-	-	-	-	FCGBP	uc002omp.4,p.P509L|NM_003890,p.P509L|ENST00000221347,p.P509L	protein_coding, processed_transcript	uc002omp.4	nonsynonymous SNV	exon3	c.C1526T	p.P509L	TMVELCSEDDTLPAFSVEAKNEHRG	TMVELCSEDDTLLAFSVEAKNEHRG	3.0	2.0	unscreened	-	3466_19:40430417-40430417 G>A_TMVELCSEDDTLLAFSVEAKNEHRG
9:136338623-136338623 G>A	1.0	3466	MELANOMA	-	-	-	-	SLC2A6	uc004ceg.3,p.S356F|uc004cee.3,p.S379F|ENST00000371899,p.S379F|NM_017585,p.S379F	protein_coding, processed_transcript	uc004ceg.3	nonsynonymous SNV	exon8	c.C1067T	p.S356F	LSPNSTAGLESESWGDLAQPLAAPA	LSPNSTAGLESEFWGDLAQPLAAPA	4.0	9.0	-	-	3466_9:136338623-136338623 G>A_LSPNSTAGLESEFWGDLAQPLAAPA
4:3443757-3443757 C>T	0.0	3466	MELANOMA	-	-	-	-	HGFAC	ENST00000511533,p.P10L|ENST00000382774,p.P10L|NM_001528,p.P10L|NM_001297439,p.P10L|uc003ghc.3,p.P10L|uc010icw.3,p.P10L	retained_intron, protein_coding	uc010icw.3	nonsynonymous SNV	exon1	c.C29T	p.P10L	MGRWAWVPSPWPPPGLGPFLLL	MGRWAWVPSLWPPPGLGPFLLL	1.0	9.0	unscreened	-	3466_4:3443757-3443757 C>T_MGRWAWVPSLWPPPGLGPFLLL
2:179594516-179594516 G>A	0.0	3466	MELANOMA	-	-	ID=COSM228887;OCCURENCE=1(skin)	-	TTN	uc031rqc.1,p.S6155F|ENST00000589042,p.S6155F|NM_001256850,p.S5838F|ENST00000591111,p.S5838F|uc021vsy.2,p.S4911F|NM_133378,p.S4911F|uc031rqd.1,p.S5838F|ENST00000342992,p.S4911F|NM_001267550,p.S6155F|uc002umz.1,p.S1572F	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon61	c.C17513T	p.S5838F	GNEITAIQKHGISFIDGLATFQISG	GNEITAIQKHGIFFIDGLATFQISG	5.0	8.0	unscreened	-	3466_2:179594516-179594516 G>A_GNEITAIQKHGIFFIDGLATFQISG
19:39088225-39088225 G>T	0.0	3466	MELANOMA	-	-	-	-	MAP4K1	ENST00000423454,p.P202T|uc010xug.2,p.P202T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xug.2	nonsynonymous SNV	exon13	c.C604A	p.P202T	NDQEATLEMERPPTCILIASLACWN	NDQEATLEMERPTTCILIASLACWN	5.0	7.0	unscreened	-	3466_19:39088225-39088225 G>T_NDQEATLEMERPTTCILIASLACWN
7:103018123-103018123 C>T	0.0	3466	MELANOMA	-	-	-	-	SLC26A5	uc003vbx.3,p.D605N|NM_001167962,p.D605N|ENST00000393723,p.D607N|ENST00000339444,p.D637N|ENST00000354356,p.D70N|ENST00000393729,p.D600N|ENST00000393727,p.D639N|ENST00000432958,p.D605N|NM_198999,p.D637N|uc003vbt.2,p.D637N|NM_206883,p.D637N|ENST00000393730,p.D605N|uc003vbz.3,p.D637N|ENST00000306312,p.D637N	retained_intron, protein_coding, nonsense_mediated_decay	uc003vbz.3	nonsynonymous SNV	exon18	c.G1909A	p.D637N	FPEEMQRFMPPGDNVHTVILDFTQV	FPEEMQRFMPPGNNVHTVILDFTQV	1.0	1.0	unscreened	-	3466_7:103018123-103018123 C>T_FPEEMQRFMPPGNNVHTVILDFTQV
1:158736237-158736237 G>A	0.0	3466	MELANOMA	-	-	-	-	OR6N1	NM_001005185,p.P79L|ENST00000335094,p.P79L|uc010piq.2,p.P79L	protein_coding	uc010piq.2	nonsynonymous SNV	exon1	c.C236T	p.P79L	SFSELGYTAATIPKMLANLLSEKKT	SFSELGYTAATILKMLANLLSEKKT	1.0	5.0	unscreened	-	3466_1:158736237-158736237 G>A_SFSELGYTAATILKMLANLLSEKKT
19:15224441-15224441 C>G	0.0	3466	MELANOMA	-	-	-	-	SYDE1	NM_001300910,p.H558Q|NM_033025,p.H625Q|ENST00000342784,p.H625Q|ENST00000600440,p.H558Q|ENST00000600252,p.H282Q|uc002naj.1,p.H282Q|uc002nai.1,p.H558Q|uc002nah.1,p.H625Q	protein_coding	uc002naj.1	nonsynonymous SNV	exon5	c.C846G	p.H282Q	APYLRPKRQPPLHLPLADPEVVTRP	APYLRPKRQPPLQLPLADPEVVTRP	7.0	1.0	unscreened	-	3466_19:15224441-15224441 C>G_APYLRPKRQPPLQLPLADPEVVTRP
20:33067568-33067568 C>T	1.0	3466	MELANOMA	-	-	-	-	ITCH	uc002xak.3,p.R598C|uc010geu.2,p.R639C|ENST00000262650,p.R639C|NM_031483,p.R598C|ENST00000374864,p.R598C|ENST00000535650,p.R488C|NM_001257138,p.R488C|NM_001257137,p.R639C|uc010zuj.2,p.R488C	protein_coding, processed_transcript	uc010zuj.2	nonsynonymous SNV	exon17	c.C1462T	p.R488C	ASYINPDHLKYFRFIGRFIAMALFH	ASYINPDHLKYFCFIGRFIAMALFH	9.0	6.0	-	-	3466_20:33067568-33067568 C>T_ASYINPDHLKYFCFIGRFIAMALFH
19:39734499-39734499 G>A	0.0	3466	MELANOMA	-	-	-	-	IFNL3	NM_172139,p.H153Y|uc010xuu.2,p.H153Y|uc010xut.2,p.H153Y|ENST00000413851,p.H153Y	protein_coding	uc010xuu.2	nonsynonymous SNV	exon4	c.C457T	p.H153Y	PTAGPRTRGRLHHWLHRLQEAPKKE	PTAGPRTRGRLHYWLHRLQEAPKKE	1.0	8.0	unscreened	-	3466_19:39734499-39734499 G>A_PTAGPRTRGRLHYWLHRLQEAPKKE
6:6251049-6251049 C>T	0.0	3466	MELANOMA	-	-	-	-	F13A1	NM_000129,p.G229S|uc011dib.2,p.G166S|uc003mwv.3,p.G229S|ENST00000264870,p.G229S	retained_intron, protein_coding	uc011dib.2	nonsynonymous SNV	exon4	c.G496A	p.G166S	EVNDIKTRSWSYGQFEDGILDTCLY	EVNDIKTRSWSYSQFEDGILDTCLY	6.0	1.0	unscreened	-	3466_6:6251049-6251049 C>T_EVNDIKTRSWSYSQFEDGILDTCLY
7:86548587-86548587 C>T	0.0	3466	MELANOMA	-	-	-	-	KIAA1324L	ENST00000444627,p.G480E|NM_001291991,p.G240E|NM_001291990,p.G366E|uc011kgz.2,p.G366E|ENST00000416314,p.G313E|NM_152748,p.G313E|ENST00000297222,p.G240E|uc003uif.2,p.G232E|ENST00000450689,p.G480E|uc011kha.2,p.G480E|uc003uie.3,p.G313E|NM_001142749,p.G480E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kha.2	nonsynonymous SNV	exon11	c.G1439A	p.G480E	WEVAGDHIQSGAGGSDNDYLILNLH	WEVAGDHIQSGAEGSDNDYLILNLH	5.0	9.0	unscreened	-	3466_7:86548587-86548587 C>T_WEVAGDHIQSGAEGSDNDYLILNLH
6:3298337-3298337 C>T	1.0	3466	MELANOMA	-	-	-	-	SLC22A23	uc003mvn.3,p.G119S|NM_021945,p.G119S|ENST00000490273,p.G119S|NM_015482,p.G400S|NM_001286455,p.G119S|ENST00000380302,p.G119S|ENST00000406686,p.G400S|ENST00000485307,p.G228S|uc003mvm.3,p.G400S|uc003mvo.3,p.G119S|uc010jnn.3,p.G400S|ENST00000467177,p.G226S|ENST00000436008,p.G400S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jnn.3	nonsynonymous SNV	exon5	c.G1198A	p.G400S	QKNRMNPEGDIKGVIPELEKELSRR	QKNRMNPEGDIKSVIPELEKELSRR	6.0	1.0	unscreened	-	3466_6:3298337-3298337 C>T_QKNRMNPEGDIKSVIPELEKELSRR
2:84880706-84880706 C>T	0.0	3466	MELANOMA	-	-	-	-	DNAH6	NM_001370,p.S1781F|ENST00000389394,p.S1781F|ENST00000398278,p.S1781F|ENST00000237449,p.S1781F|uc010fgb.3,p.S1781F	retained_intron, protein_coding, processed_transcript	uc010fgb.3	nonsynonymous SNV	exon34	c.C5342T	p.S1781F	TLGNLQKLGIENSFYQAVKTYVLNP	TLGNLQKLGIENFFYQAVKTYVLNP	1.0	8.0	unscreened	-	3466_2:84880706-84880706 C>T_TLGNLQKLGIENFFYQAVKTYVLNP
1:55277548-55277548 C>T	0.0	3466	MELANOMA	-	-	-	-	C1orf177	ENST00000371273,p.H188Y|ENST00000358193,p.H188Y|uc001cyb.4,p.H188Y|NM_152607,p.H188Y|uc001cya.4,p.H188Y|NM_001110533,p.H188Y	protein_coding	uc001cyb.4	nonsynonymous SNV	exon5	c.C562T	p.H188Y	YTKLEENAWNRSHSEGLMCRMSNKP	YTKLEENAWNRSYSEGLMCRMSNKP	1.0	6.0	unscreened	-	3466_1:55277548-55277548 C>T_YTKLEENAWNRSYSEGLMCRMSNKP
19:44833115-44833115 G>A	1.0	3466	MELANOMA	-	-	-	-	ZNF112	ENST00000354340,p.H399Y|ENST00000536500,p.H422Y|uc010xwz.2,p.H404Y|ENST00000337401,p.H405Y|NM_013380,p.H399Y|uc010xwy.2,p.H422Y|uc002ozc.4,p.H399Y|NM_001083335,p.H405Y|uc010ejj.3,p.H405Y	protein_coding, nonsense_mediated_decay	uc010xwz.2	nonsynonymous SNV	exon5	c.C1210T	p.H404Y	ENVFNQSSCLQVHQKIHTEEKLYTD	ENVFNQSSCLQVYQKIHTEEKLYTD	6.0	4.0	unscreened	-	3466_19:44833115-44833115 G>A_ENVFNQSSCLQVYQKIHTEEKLYTD
17:48271312-48271312 C>T	1.0	3466	MELANOMA	-	-	-	1	COL1A1	NM_000088,p.G587S|uc002iqm.3,p.G587S|ENST00000225964,p.G587S	retained_intron, protein_coding	uc002iqm.3	nonsynonymous SNV	exon25	c.G1759A	p.G587S	GQAGVMGFPGPKGAAGEPGKAGERG	GQAGVMGFPGPKSAAGEPGKAGERG	10.0	9.0	-	-	3466_17:48271312-48271312 C>T_GQAGVMGFPGPKSAAGEPGKAGERG
3:38051247-38051247 G>-	0.0	3466	MELANOMA	-	-	-	-	PLCD1	NM_006225,p.P448fs|ENST00000463876,p.P469fs|ENST00000334661,p.P448fs|uc003chm.3,p.P469fs|NM_001130964,p.P469fs|uc003chn.3,p.P448fs	retained_intron, protein_coding, processed_transcript	uc003chn.3	frameshift deletion	exon9	c.1343delC	p.P448fs	LLKGKKLGGLLPPGGEGGPEATVVS	LLKGKKLGGLLPLEGRVALRPLWCQTKTRLLRWRMRQ	4.0	4.0	unscreened	-	3466_3:38051247-38051247 G>-_LLKGKKLGGLLPLEGRVALRPLWCQTKTRLLRWRMRQ
3:132068842-132068842 C>T	0.0	3466	MELANOMA	-	-	-	-	ACPP	uc010htp.2,p.S287F|uc003eon.3,p.S254F|NM_001292037,p.S254F|NM_001134194,p.S287F|ENST00000336375,p.S287F|uc003eop.4,p.S287F|ENST00000351273,p.S287F|ENST00000475741,p.S254F|NM_001099,p.S287F	retained_intron, protein_coding, processed_transcript	uc010htp.2	nonsynonymous SNV	exon8	c.C860T	p.S287F	TQIPSYKKLIMYSAHDTTVSGLQMA	TQIPSYKKLIMYFAHDTTVSGLQMA	2.0	6.0	unscreened	-	3466_3:132068842-132068842 C>T_TQIPSYKKLIMYFAHDTTVSGLQMA
7:150554126-150554126 C>T	0.0	3466	MELANOMA	-	-	-	-	AOC1	ENST00000360937,p.R190W|ENST00000416793,p.R190W|NM_001091,p.R190W|ENST00000467291,p.R190W|ENST00000493429,p.R190W|uc003whz.2,p.R190W|uc003why.1,p.R190W|uc003wia.2,p.R190W|ENST00000460213,p.R190W|NM_001272072,p.R190W|ENST00000483043,p.R190W	protein_coding, processed_transcript	uc003wia.2	nonsynonymous SNV	exon2	c.C568T	p.R190W	HDRCLAFTDVAPRGVASGQRRSWLI	HDRCLAFTDVAPWGVASGQRRSWLI	1.0	9.0	unscreened	-	3466_7:150554126-150554126 C>T_HDRCLAFTDVAPWGVASGQRRSWLI
19:44679908-44679908 C>T	1.0	3466	MELANOMA	-	-	-	-	ZNF226	ENST00000590089,p.P165S|ENST00000337433,p.P165S|ENST00000454662,p.P165S|uc002oyq.3,p.P48S|NM_001032372,p.P165S|uc002oyp.3,p.P165S|uc002oys.3,p.P165S|uc002oyr.3,p.P48S|uc002oyt.3,p.P165S|NM_001032373,p.P165S	retained_intron, protein_coding	uc002oyt.3	nonsynonymous SNV	exon7	c.C493T	p.P165S	ADGPNNTGNPEFPILRTQDSWRKTF	ADGPNNTGNPEFSILRTQDSWRKTF	7.0	4.0	-	-	3466_19:44679908-44679908 C>T_ADGPNNTGNPEFSILRTQDSWRKTF
20:34572600-34572600 G>A	1.0	3466	MELANOMA	-	-	-	-	CNBD2	ENST00000349339,p.E206K|NM_080834,p.E206K|uc002xer.1,p.E206K|uc002xes.1,p.E206K|NM_001207076,p.E206K|ENST00000538900,p.E206K|ENST00000373973,p.E206K	retained_intron, protein_coding, processed_transcript	uc002xes.1	nonsynonymous SNV	exon6	c.G616A	p.E206K	HASVRRSTIVCMEETEFLVVDREDF	HASVRRSTIVCMKETEFLVVDREDF	3.0	4.0	unscreened	-	3466_20:34572600-34572600 G>A_HASVRRSTIVCMKETEFLVVDREDF
19:40197292-40197292 G>A	0.0	3466	MELANOMA	-	-	-	-	LGALS14	uc002omg.3,p.G24E|ENST00000392052,p.G24E|uc002omf.3,p.G53E|ENST00000360675,p.G53E|NM_020129,p.G24E|NM_203471,p.G53E	protein_coding	uc002omg.3	nonsynonymous SNV	exon2	c.G71A	p.G24E	VSLPVGSCVIITGTPILTFVKDPQL	VSLPVGSCVIITETPILTFVKDPQL	1.0	7.0	unscreened	-	3466_19:40197292-40197292 G>A_VSLPVGSCVIITETPILTFVKDPQL
19:38380779-38380779 G>C	0.0	3466	MELANOMA	-	-	-	-	WDR87	NM_001291088,p.Q1178E|ENST00000303868,p.Q1139E|ENST00000447313,p.Q1178E|NM_031951,p.Q1139E|uc010efu.2,p.Q1139E|uc002ohj.2,p.Q1178E	retained_intron, protein_coding	uc010efu.2	nonsynonymous SNV	exon6	c.C3415G	p.Q1139E	APIEMEEASVYSQWSSSTSVIKLSK	APIEMEEASVYSEWSSSTSVIKLSK	1.0	7.0	unscreened	-	3466_19:38380779-38380779 G>C_APIEMEEASVYSEWSSSTSVIKLSK
20:2582819-2582819 C>T	0.0	3466	MELANOMA	-	-	-	-	TMC2	uc002wgg.1,p.L413F|uc002wgf.1,p.L429F|uc010zpw.1,p.L261F|uc010zpx.1,p.L260F|NM_080751,p.L429F|ENST00000358864,p.L429F	protein_coding, processed_transcript	uc010zpx.1	nonsynonymous SNV	exon9	c.C778T	p.L260F	SNKEENIHLTRFLRVLANFLIICCL	SNKEENIHLTRFFRVLANFLIICCL	1.0	5.0	unscreened	-	3466_20:2582819-2582819 C>T_SNKEENIHLTRFFRVLANFLIICCL
12:116446558-116446558 G>A	1.0	3466	MELANOMA	-	-	-	-	MED13L	uc001tvw.3,p.P554S|NM_015335,p.P554S|ENST00000281928,p.P554S	retained_intron, protein_coding, processed_transcript	uc001tvw.3	nonsynonymous SNV	exon10	c.C1660T	p.P554S	LNPMDSPHSPISPLPPTLSPQPRGQ	LNPMDSPHSPISSLPPTLSPQPRGQ	9.0	9.0	-	-	3466_12:116446558-116446558 G>A_LNPMDSPHSPISSLPPTLSPQPRGQ
1:19200980-19200980 G>A	1.0	3466	MELANOMA	-	-	-	-	ALDH4A1	NM_003748,p.P519L|NM_001161504,p.P459L|ENST00000290597,p.P519L|ENST00000538839,p.P468L|NM_170726,p.P519L|uc010ocu.2,p.P459L|ENST00000375341,p.P519L|uc001bbb.3,p.P519L|ENST00000538309,p.P459L|uc021ohl.1,p.P468L|uc001bbc.3,p.P519L	protein_coding, processed_transcript	uc021ohl.1	nonsynonymous SNV	exon13	c.C1403T	p.P468L	NDKSTGSIVGQQPFGGARASGTNDK	NDKSTGSIVGQQLFGGARASGTNDK	4.0	1.0	unscreened	-	3466_1:19200980-19200980 G>A_NDKSTGSIVGQQLFGGARASGTNDK
19:22255636-22255636 C>T	0.0	3466	MELANOMA	-	-	-	-	ZNF257	uc010ecx.3,p.T10I|ENST00000600162,p.T10I|NM_033468,p.T10I|ENST00000594947,p.T10I|ENST00000594363,p.T10I	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ecx.3	nonsynonymous SNV	exon2	c.C29T	p.T10I	MGPLTIRDVTVEFSLEEWHCLD	MGPLTIRDVIVEFSLEEWHCLD	1.0	3.0	unscreened	-	3466_19:22255636-22255636 C>T_MGPLTIRDVIVEFSLEEWHCLD
21:44174113-44174113 C>T	0.0	3466	MELANOMA	-	-	-	-	PDE9A	uc002zbv.3,p.P90L|NM_002606,p.P250L|ENST00000398234,p.P149L|uc002zcd.3,p.P164L|NM_001001572,p.P43L|NM_001001573,p.P43L|uc002zcc.3,p.P149L|NM_001001577,p.P116L|NM_001001579,p.P43L|ENST00000539837,p.P122L|uc002zcf.3,p.P43L|uc002zbm.3,p.P250L|NM_001001584,p.P43L|ENST00000398232,p.P183L|ENST00000398224,p.P123L|ENST00000398229,p.P116L|ENST00000380328,p.P197L|NM_001001582,p.P209L|ENST00000328862,p.P224L|uc002zbx.3,p.P190L|NM_001001570,p.P197L|NM_001001567,p.P190L|ENST00000398227,p.P90L|uc002zbo.3,p.P197L|uc002zbw.3,p.P33L|uc002zbr.3,p.P43L|uc002zbt.3,p.P122L|uc002zcb.3,p.P224L|NM_001001580,p.P33L|uc010gpf.1,p.P43L|NM_001001568,p.P123L|ENST00000335512,p.P190L|ENST00000291539,p.P250L|NM_001001575,p.P90L|uc002zbu.3,p.P116L|NM_001001585,p.P43L|NM_001001574,p.P164L|uc002zca.3,p.P209L|ENST00000398236,p.P164L|uc002zbz.3,p.P142L|uc002zbn.3,p.P123L|uc002zbp.3,p.P43L|NM_001001583,p.P224L|uc002zbq.3,p.P148L|ENST00000398225,p.P209L|NM_001001578,p.P148L|ENST00000349112,p.P122L|NM_001001576,p.P33L|uc002zcg.3,p.P43L|NM_001001571,p.P149L|uc002zce.3,p.P183L|uc002zbs.3,p.P43L|NM_001001569,p.P122L|ENST00000335440,p.P148L|uc002zby.3,p.P33L|NM_001001581,p.P183L	retained_intron, protein_coding, processed_transcript	uc010gpf.1	nonsynonymous SNV	exon4	c.C128T	p.P43L	RDVPTYPKYLLSPETIEALRKPTFD	RDVPTYPKYLLSLETIEALRKPTFD	2.0	7.0	unscreened	-	3466_21:44174113-44174113 C>T_RDVPTYPKYLLSLETIEALRKPTFD
4:25366700-25366700 G>A	0.0	3466	MELANOMA	-	-	-	-	ZCCHC4	uc003grl.4,p.G440S|NM_024936,p.G440S|ENST00000302874,p.G440S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003grl.4	nonsynonymous SNV	exon12	c.G1318A	p.G440S	CNHCAVPDHSCEGPKHGCFICGELD	CNHCAVPDHSCESPKHGCFICGELD	6.0	9.0	unscreened	-	3466_4:25366700-25366700 G>A_CNHCAVPDHSCESPKHGCFICGELD
18:21495277-21495277 C>T	1.0	3466	MELANOMA	-	-	-	-	LAMA3	uc002kur.3,p.P2501S|NM_001127718,p.P892S|uc002kut.4,p.P892S|NM_001127717,p.P2501S|NM_198129,p.P2557S|ENST00000313654,p.P2557S|uc002kuq.3,p.P2557S|ENST00000269217,p.P948S|uc002kus.4,p.P948S|NM_000227,p.P948S|ENST00000587184,p.P892S|ENST00000399516,p.P2501S	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc002kut.4	nonsynonymous SNV	exon21	c.C2674T	p.P892S	PDFKLPSRLSFPPYKGCIELDDLNE	PDFKLPSRLSFPSYKGCIELDDLNE	2.0	2.0	unscreened	-	3466_18:21495277-21495277 C>T_PDFKLPSRLSFPSYKGCIELDDLNE
1:203317151-203317168 GGGCAGTCGCACTCCTGG>-	0.0	3466	MELANOMA	-	-	-	-	FMOD	NM_002023,p.77_83del|uc001gzr.3,p.77_83del|ENST00000354955,p.77_83del	protein_coding, processed_transcript	uc001gzr.3	nonframeshift deletion	exon2	c.231_248del	p.77_83del	YGSPSPPDPRDCPQECDCPPNFPTA	YGSPSPPDPRDCPPNFPTAMYCDNR	6.0	4.0	unscreened	-	3466_1:203317151-203317168 GGGCAGTCGCACTCCTGG>-_YGSPSPPDPRDCPPNFPTAMYCDNR
12:55524423-55524423 C>T	0.0	3466	MELANOMA	-	-	-	-	OR9K2	ENST00000305377,p.P291S|uc010spe.2,p.P291S|NM_001005243,p.P291S	protein_coding	uc010spe.2	nonsynonymous SNV	exon1	c.C871T	p.P291S	AVFFMYLTPDRFPELSKVASLCYSL	AVFFMYLTPDRFSELSKVASLCYSL	1.0	9.0	unscreened	-	3466_12:55524423-55524423 C>T_AVFFMYLTPDRFSELSKVASLCYSL
1:240071836-240071836 G>A	0.0	3466	MELANOMA	-	-	-	-	CHRM3	ENST00000255380,p.R362K|NM_000740,p.R362K|uc021plc.1,p.R362K|uc001hyp.3,p.R362K	protein_coding, processed_transcript	uc021plc.1	nonsynonymous SNV	exon1	c.G1085A	p.R362K	ASSDEEDIGSETRAIYSIVLKLPGH	ASSDEEDIGSETKAIYSIVLKLPGH	1.0	8.0	unscreened	-	3466_1:240071836-240071836 G>A_ASSDEEDIGSETKAIYSIVLKLPGH
2:210560013-210560013 T>C	1.0	3466	MELANOMA	-	-	-	-	MAP2	uc002vdc.1,p.F1040S|uc002vdi.1,p.F1036S|ENST00000447185,p.F1036S|NM_002374,p.F1040S|ENST00000360351,p.F1040S|uc002vde.1,p.F1040S	retained_intron, protein_coding, processed_transcript	uc002vdi.1	nonsynonymous SNV	exon4	c.T3107C	p.F1036S	VEPSKKVEQGLDFAVQGQLDVKISD	VEPSKKVEQGLDSAVQGQLDVKISD	8.0	2.0	unscreened	-	3466_2:210560013-210560013 T>C_VEPSKKVEQGLDSAVQGQLDVKISD
5:180424486-180424486 G>A	0.0	3466	MELANOMA	-	-	-	-	BTNL3	uc003mmr.3,p.G224E|NM_197975,p.G224E|ENST00000342868,p.G224E	protein_coding	uc003mmr.3	nonsynonymous SNV	exon3	c.G671A	p.G224E	EQSHEVESKVLIGETFFQPSPWRLA	EQSHEVESKVLIEETFFQPSPWRLA	1.0	9.0	unscreened	-	3466_5:180424486-180424486 G>A_EQSHEVESKVLIEETFFQPSPWRLA
17:37265540-37265540 C>T	0.0	3466	MELANOMA	-	-	-	-	PLXDC1	ENST00000578808,p.D81N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000578808	nonsynonymous SNV	exon4	c.G241A	p.D81N	GRCGRGQPEPSEDPHNTLQHPPAGF	GRCGRGQPEPSENPHNTLQHPPAGF	8.0	9.0	unscreened	-	3466_17:37265540-37265540 C>T_GRCGRGQPEPSENPHNTLQHPPAGF
2:179511854-179511854 C>T	0.0	3466	MELANOMA	-	-	-	-	TTN	ENST00000589042,p.E13387K|uc002umx.1,p.E86K|uc031rqc.1,p.E13387K|ENST00000446966,p.E226K|NM_001267550,p.E13387K	retained_intron, protein_coding	uc031rqc.1	nonsynonymous SNV	exon215	c.G40159A	p.E13387K	EVPPAEVEETPEEIIYEEKASITIG	EVPPAEVEETPEKIIYEEKASITIG	5.0	4.0	unscreened	-	3466_2:179511854-179511854 C>T_EVPPAEVEETPEKIIYEEKASITIG
15:41476238-41476238 G>A	0.0	3466	MELANOMA	-	-	-	-	EXD1	uc001znk.3,p.P479L|ENST00000458580,p.P537L|uc001znj.3,p.P277L|ENST00000314992,p.P479L|NM_001286441,p.P537L|NM_152596,p.P479L|uc010ucv.2,p.P537L	retained_intron, protein_coding, processed_transcript	uc010ucv.2	nonsynonymous SNV	exon12	c.C1610T	p.P537L	SMSSFPQETRVSPSDTFYPIRKTVV	SMSSFPQETRVSLSDTFYPIRKTVV	1.0	7.0	unscreened	-	3466_15:41476238-41476238 G>A_SMSSFPQETRVSLSDTFYPIRKTVV
2:1680705-1680705 C>T	1.0	3466	MELANOMA	-	-	-	-	PXDN	uc002qxa.3,p.R281Q|uc002qxc.1,p.R98Q|ENST00000252804,p.R281Q|NM_012293,p.R281Q|uc002qxb.1,p.R281Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002qxc.1	nonsynonymous SNV	exon8	c.G293A	p.R98Q	AEGNPKPEIIWLRNNNELSMKTDSR	AEGNPKPEIIWLQNNNELSMKTDSR	8.0	6.0	unscreened	-	3466_2:1680705-1680705 C>T_AEGNPKPEIIWLQNNNELSMKTDSR
1:60505704-60505704 C>T	0.0	3466	MELANOMA	-	-	ID=COSM69923;OCCURENCE=1(ovary)	-	C1orf87	uc001czs.2,p.G211E|ENST00000371201,p.G211E|NM_152377,p.G211E	protein_coding, processed_transcript	uc001czs.2	nonsynonymous SNV	exon5	c.G632A	p.G211E	QKELKILDPISSGFLLQSQLSRLFL	QKELKILDPISSEFLLQSQLSRLFL	1.0	1.0	unscreened	-	3466_1:60505704-60505704 C>T_QKELKILDPISSEFLLQSQLSRLFL
6:6625183-6625183 C>T	0.0	3466	MELANOMA	-	-	-	-	LY86	ENST00000230568,p.S54F|uc003mwy.1,p.S54F|ENST00000379953,p.S54F|NM_004271,p.S54F	protein_coding	uc003mwy.1	nonsynonymous SNV	exon2	c.C161T	p.S54F	YQSCDPLQDFGFSVEKCSKQLKSNI	YQSCDPLQDFGFFVEKCSKQLKSNI	5.0	9.0	unscreened	-	3466_6:6625183-6625183 C>T_YQSCDPLQDFGFFVEKCSKQLKSNI
3:39228016-39228016 G>A	0.0	3466	MELANOMA	-	-	-	-	XIRP1	uc003cjk.2,p.P974L|uc021wvz.1,p.P974L|NM_194293,p.P974L|ENST00000340369,p.P974L|uc003cji.3,p.P974L|ENST00000396251,p.P974L|NM_001198621,p.P974L	protein_coding	uc021wvz.1	nonsynonymous SNV	exon1	c.C2921T	p.P974L	QSLHPTESIIHVPPLDPSMGMGHLR	QSLHPTESIIHVLPLDPSMGMGHLR	3.0	5.0	unscreened	-	3466_3:39228016-39228016 G>A_QSLHPTESIIHVLPLDPSMGMGHLR
11:5757819-5757819 G>A	0.0	3466	MELANOMA	-	-	-	-	OR56B1	ENST00000317121,p.G25R|uc001mbs.1,p.G25R|uc001mbt.2,p.G25R|uc009yev.1,p.G25R|NM_001005180,p.G25R	protein_coding	uc009yev.1	nonsynonymous SNV	exon4	c.G73A	p.G25R	SSKFQVSEFILLGFPGIHSWQHWLS	SSKFQVSEFILLRFPGIHSWQHWLS	1.0	8.0	unscreened	-	3466_11:5757819-5757819 G>A_SSKFQVSEFILLRFPGIHSWQHWLS
2:21231224-21231224 T>A	0.0	3466	MELANOMA	-	-	-	-	APOB	ENST00000233242,p.H2839L|NM_000384,p.H2839L|uc002red.3,p.H2839L	protein_coding	uc002red.3	nonsynonymous SNV	exon26	c.A8516T	p.H2839L	SVKFSSKYLRTEHGSEMLFFGNAIE	SVKFSSKYLRTELGSEMLFFGNAIE	1.0	7.0	unscreened	-	3466_2:21231224-21231224 T>A_SVKFSSKYLRTELGSEMLFFGNAIE
1:8420655-8420655 G>A	1.0	3466	MELANOMA	-	-	-	-	RERE	uc001ape.3,p.P971L|uc001apd.3,p.P417L|ENST00000377464,p.P703L|NM_012102,p.P971L|NM_001042681,p.P971L|ENST00000476556,p.P417L|uc001apf.3,p.P971L|uc010nzx.1,p.P703L|ENST00000337907,p.P971L|NM_001042682,p.P417L|ENST00000400908,p.P971L	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc010nzx.1	nonsynonymous SNV	exon12	c.C2108T	p.P703L	MNANLPPPPALKPLSSLSTHHPPSA	MNANLPPPPALKLLSSLSTHHPPSA	8.0	7.0	-	-	3466_1:8420655-8420655 G>A_MNANLPPPPALKLLSSLSTHHPPSA
12:108013910-108013910 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1706224;OCCURENCE=1(skin)	-	BTBD11	NM_001018072,p.P867L|uc001tmj.3,p.P867L|uc001tml.1,p.P404L|ENST00000490090,p.P867L|ENST00000357167,p.P404L|uc009zut.1,p.P748L|uc001tmk.1,p.P867L|NM_001017523,p.P404L|ENST00000280758,p.P867L|ENST00000420571,p.P748L	protein_coding	uc009zut.1	nonsynonymous SNV	exon9	c.C2243T	p.P748L	EEYTEELVTQGLPLMFEILKASKNE	EEYTEELVTQGLLLMFEILKASKNE	2.0	9.0	unscreened	-	3466_12:108013910-108013910 C>T_EEYTEELVTQGLLLMFEILKASKNE
11:56510903-56510903 G>A	0.0	3466	MELANOMA	-	-	-	-	OR9G4	ENST00000302957,p.L129F|uc010rjo.2,p.L129F|NM_001005284,p.L129F	protein_coding	uc010rjo.2	nonsynonymous SNV	exon1	c.C385T	p.L129F	FFSCVVAYTECYLLAAMAYDRHAAI	FFSCVVAYTECYFLAAMAYDRHAAI	1.0	6.0	unscreened	-	3466_11:56510903-56510903 G>A_FFSCVVAYTECYFLAAMAYDRHAAI
11:5344891-5344891 G>A	0.0	3466	MELANOMA	-	-	-	-	OR51B2	NM_033180,p.L213F|ENST00000328813,p.L213F|uc001mao.1,p.L213F	protein_coding	uc001mao.1	nonsynonymous SNV	exon1	c.C637T	p.L213F	ISLTIFLDCLIILFSYILILNTVIG	ISLTIFLDCLIIFFSYILILNTVIG	1.0	4.0	unscreened	-	3466_11:5344891-5344891 G>A_ISLTIFLDCLIIFFSYILILNTVIG
4:727822-727822 C>T	1.0	3466	MELANOMA	-	-	-	-	PCGF3	ENST00000400151,p.T118I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000400151	nonsynonymous SNV	exon4	c.C353T	p.T118I	ASLRRAKHRRDPTFLPRSSKASSRC	ASLRRAKHRRDPIFLPRSSKASSRC	9.0	9.0	unscreened	-	3466_4:727822-727822 C>T_ASLRRAKHRRDPIFLPRSSKASSRC
12:81051812-81051812 C>T	0.0	3466	MELANOMA	-	-	-	-	PTPRQ	ENST00000266688,p.S2051L	retained_intron, protein_coding, processed_transcript	ENST00000266688	nonsynonymous SNV	exon44	c.C6152T	p.S2051L	RVKLIADASVPGSDYINASYISGYL	RVKLIADASVPGLDYINASYISGYL	1.0	9.0	unscreened	-	3466_12:81051812-81051812 C>T_RVKLIADASVPGLDYINASYISGYL
10:103348032-103348032 G>A	0.0	3466	MELANOMA	-	-	-	-	DPCD,POLL	ENST00000416979,p.G150E|uc010qpz.2,p.G150E	protein_coding, processed_transcript	uc010qpz.2	nonsynonymous SNV	exon4	c.G449A	p.G150E	GGQMARIASESAGSDPLERLPWQRL	GGQMARIASESAESDPLERLPWQRL	4.0	5.0	unscreened	-	3466_10:103348032-103348032 G>A_GGQMARIASESAESDPLERLPWQRL
9:14804989-14804989 C>T	1.0	3466	MELANOMA	-	-	-	-	FREM1	ENST00000380880,p.D1146N|ENST00000380881,p.D1147N|uc003zlm.3,p.D1146N|NM_144966,p.D1146N|ENST00000380875,p.D1146N|ENST00000422223,p.D1146N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zlm.3	nonsynonymous SNV	exon20	c.G3436A	p.D1146N	EIPFSIIINPTNDEAPDFVVQNITV	EIPFSIIINPTNNEAPDFVVQNITV	5.0	9.0	unscreened	-	3466_9:14804989-14804989 C>T_EIPFSIIINPTNNEAPDFVVQNITV
13:111144515-111144515 G>A	0.0	3466	MELANOMA	-	-	-	-	COL4A2	ENST00000360467,p.G1185S|NM_001846,p.G1185S|uc001vqx.3,p.G1185S	protein_coding, processed_transcript	uc001vqx.3	nonsynonymous SNV	exon38	c.G3553A	p.G1185S	GGKGDDGWPGAPGLPGFPGLRGIRG	GGKGDDGWPGAPSLPGFPGLRGIRG	8.0	9.0	unscreened	-	3466_13:111144515-111144515 G>A_GGKGDDGWPGAPSLPGFPGLRGIRG
5:140389775-140389775 C>T	1.0	3466	MELANOMA	-	-	-	-	PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2	uc003lie.1,p.S890F|ENST00000529619,p.S876F|uc003lhk.1,p.S876F|ENST00000409494,p.S890F|uc003lhh.1,p.S887F|ENST00000512229,p.S887F	protein_coding	uc003lie.1	nonsynonymous SNV	exon5	c.C2669T	p.S890F	QSGPEPKKQTQVSFLLRRKGEASQP	QSGPEPKKQTQVFFLLRRKGEASQP	2.0	9.0	unscreened	-	3466_5:140389775-140389775 C>T_QSGPEPKKQTQVFFLLRRKGEASQP
20:61453145-61453145 G>A	1.0	3466	MELANOMA	-	-	ID=COSM122312;OCCURENCE=1(upper_aerodigestive_tract)	-	COL9A3	ENST00000452372,p.G99S|ENST00000343916,p.G136S|uc002ydm.3,p.G136S|NM_001853,p.G136S	retained_intron, protein_coding, processed_transcript	uc002ydm.3	nonsynonymous SNV	exon8	c.G406A	p.G136S	GEAGVSGPPGGIGLRGPPGPSGLPG	GEAGVSGPPGGISLRGPPGPSGLPG	10.0	2.0	-	-	3466_20:61453145-61453145 G>A_GEAGVSGPPGGISLRGPPGPSGLPG
1:100905496-100905496 C>T	0.0	3466	MELANOMA	-	-	-	-	CDC14A	uc001dte.4,p.S133F|ENST00000370124,p.S133F|NM_033312,p.S133F|uc010oui.1,p.S75F|NM_033313,p.S133F|uc009wee.3,p.S133F|ENST00000542213,p.S75F|ENST00000370125,p.S133F|ENST00000544534,p.S133F|uc001dtf.2,p.S133F|ENST00000361544,p.S133F|ENST00000336454,p.S133F|uc001dtg.4,p.S133F|ENST00000455467,p.S134F|NM_003672,p.S133F	protein_coding, processed_transcript	uc010oui.1	nonsynonymous SNV	exon6	c.C224T	p.S75F	GSNPPYLPFRDASFGNCTYNLTILD	GSNPPYLPFRDAFFGNCTYNLTILD	5.0	1.0	unscreened	-	3466_1:100905496-100905496 C>T_GSNPPYLPFRDAFFGNCTYNLTILD
22:23503732-23503732 C>T	1.0	3466	MELANOMA	-	-	-	-	RAB36	uc010gtw.1,p.S306F|NM_004914,p.S328F|uc002zwv.1,p.S328F|ENST00000263116,p.S328F|ENST00000341989,p.S306F	protein_coding	uc010gtw.1	nonsynonymous SNV	exon10	c.C917T	p.S306F	GSPPETQESKRPSSLGCC	GSPPETQESKRPFSLGCC	4.0	8.0	unscreened	-	3466_22:23503732-23503732 C>T_GSPPETQESKRPFSLGCC
17:43311031-43311031 C>T	1.0	3466	MELANOMA	-	-	-	-	FMNL1	ENST00000331495,p.L140F|ENST00000328118,p.L140F|uc002iin.3,p.L140F|uc002iip.1,p.L134F|NM_005892,p.L140F|uc002iio.3,p.L85F	retained_intron, protein_coding, processed_transcript	uc002iip.1	nonsynonymous SNV	exon2	c.C400T	p.L134F	LRTNHIGWVQEFLNEENRGLDVLLE	LRTNHIGWVQEFFNEENRGLDVLLE	8.0	9.0	-	-	3466_17:43311031-43311031 C>T_LRTNHIGWVQEFFNEENRGLDVLLE
7:12644139-12644139 G>A	0.0	3466	MELANOMA	-	-	-	-	SCIN	ENST00000341757,p.E173K|ENST00000297029,p.E173K|uc003ssn.4,p.E173K|NM_001112706,p.E173K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ssn.4	nonsynonymous SNV	exon4	c.G517A	p.E173K	NKGDCFIIDLGTEIYQWCGSSCNKY	NKGDCFIIDLGTKIYQWCGSSCNKY	5.0	1.0	unscreened	-	3466_7:12644139-12644139 G>A_NKGDCFIIDLGTKIYQWCGSSCNKY
22:46657791-46657791 A>G	0.0	3466	MELANOMA	-	-	-	-	PKDREJ	uc003bhh.3,p.S477P|ENST00000253255,p.S477P|NM_006071,p.S477P	protein_coding	uc003bhh.3	nonsynonymous SNV	exon1	c.T1429C	p.S477P	NCERNFIVSDRFSLFLNCTNCASRD	NCERNFIVSDRFPLFLNCTNCASRD	1.0	5.0	unscreened	-	3466_22:46657791-46657791 A>G_NCERNFIVSDRFPLFLNCTNCASRD
5:138707859-138707859 C>T	0.0	3466	MELANOMA	0.0005	-	-	-	SLC23A1	NM_005847,p.D545N|NM_152685,p.D549N|ENST00000353963,p.D549N|uc003leh.3,p.D545N|uc003leg.3,p.D549N|ENST00000348729,p.D545N	retained_intron, protein_coding, processed_transcript	uc003leh.3	nonsynonymous SNV	exon14	c.G1633A	p.D545N	ANSDMSSSLKSYDFPIGMGIVKRIT	ANSDMSSSLKSYNFPIGMGIVKRIT	1.0	9.0	unscreened	-	3466_5:138707859-138707859 C>T_ANSDMSSSLKSYNFPIGMGIVKRIT
4:166996116-166996116 G>A	0.0	3466	MELANOMA	-	-	-	-	TLL1	ENST00000507499,p.G782R|uc011cjo.2,p.G583R|uc011cjn.2,p.G782R|ENST00000061240,p.G759R|uc003irh.2,p.G759R|NM_012464,p.G759R	protein_coding, nonsense_mediated_decay	uc011cjo.2	nonsynonymous SNV	exon17	c.G1747A	p.G583R	NTMGSYMCQCRNGFVLHDNKHDCKE	NTMGSYMCQCRNRFVLHDNKHDCKE	2.0	7.0	unscreened	-	3466_4:166996116-166996116 G>A_NTMGSYMCQCRNRFVLHDNKHDCKE
9:139324194-139324194 G>A	1.0	3466	MELANOMA	-	-	-	-	INPP5E	uc004cho.3,p.S623L|ENST00000371712,p.S623L|uc010nbm.3,p.S622L|NM_019892,p.S623L	protein_coding	uc010nbm.3	nonsynonymous SNV	exon10	c.C1865T	p.S622L	RELYLLGIKRRISKEIQRQQALQSQ	RELYLLGIKRRILKEIQRQQALQSQ	4.0	9.0	unscreened	-	3466_9:139324194-139324194 G>A_RELYLLGIKRRILKEIQRQQALQSQ
19:17038926-17038926 C>T	0.0	3466	MELANOMA	-	rs61742969	ID=COSM1202134;OCCURENCE=1(large_intestine)	-	CPAMD8	ENST00000443236,p.R1135Q|uc002nfb.3,p.R1135Q|NM_015692,p.R1135Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nfb.3	nonsynonymous SNV	exon25	c.G3404A	p.R1135Q	GFSTGWGSMGEFRIWRKMEVDESYS	GFSTGWGSMGEFQIWRKMEVDESYS	1.0	1.0	unscreened	-	3466_19:17038926-17038926 C>T_GFSTGWGSMGEFQIWRKMEVDESYS
5:140788940-140788940 C>T	0.0	3466	MELANOMA	-	-	-	-	PCDHGB6	uc003lki.1,p.P391S|NM_018926,p.P391S|ENST00000520790,p.P391S|NM_032100,p.P391S|uc003lkj.2,p.P391S	protein_coding	uc003lkj.2	nonsynonymous SNV	exon1	c.C1171T	p.P391S	NGEVRCNIETDIPFKIYSSSNNYYK	NGEVRCNIETDISFKIYSSSNNYYK	4.0	9.0	unscreened	-	3466_5:140788940-140788940 C>T_NGEVRCNIETDISFKIYSSSNNYYK
4:2343297-2343297 G>A	1.0	3466	MELANOMA	-	-	-	-	ZFYVE28	uc003gez.3,p.P29S|ENST00000511071,p.P76S|NM_001172656,p.P76S|NM_001172657,p.P76S|NM_001172658,p.P29S|uc003gex.2,p.P76S|ENST00000503000,p.P76S|uc011bvl.2,p.P76S|uc021xkq.1,p.P76S|ENST00000509171,p.P29S|NM_020972,p.P76S|ENST00000290974,p.P76S	retained_intron, protein_coding, processed_transcript	uc021xkq.1	nonsynonymous SNV	exon3	c.C226T	p.P76S	LNIINQIMDECIPQDRAPRDFCVKF	LNIINQIMDECISQDRAPRDFCVKF	6.0	9.0	unscreened	-	3466_4:2343297-2343297 G>A_LNIINQIMDECISQDRAPRDFCVKF
10:61829465-61829465 C>T	0.0	3466	MELANOMA	-	-	-	-	ANK3	NM_020987,p.G3725E|ENST00000280772,p.G3725E|uc001jky.3,p.G3725E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jky.3	nonsynonymous SNV	exon37	c.G11174A	p.G3725E	KVDPKLRTPIKMGISASTMTMKKEG	KVDPKLRTPIKMEISASTMTMKKEG	5.0	5.0	-	-	3466_10:61829465-61829465 C>T_KVDPKLRTPIKMEISASTMTMKKEG
7:128485169-128485169 G>A	0.0	3466	MELANOMA	-	-	-	-	FLNC	NM_001127487,p.S1217N|ENST00000325888,p.S1217N|ENST00000346177,p.S1217N|NM_001458,p.S1217N|uc003vnz.4,p.S1217N|uc003voa.4,p.S1217N	retained_intron, protein_coding	uc003voa.4	nonsynonymous SNV	exon21	c.G3650A	p.S1217N	HNNADGTYHITYSPAFPGTYTITIK	HNNADGTYHITYNPAFPGTYTITIK	3.0	1.0	unscreened	-	3466_7:128485169-128485169 G>A_HNNADGTYHITYNPAFPGTYTITIK
3:164764690-164764690 C>A	0.0	3466	MELANOMA	-	-	-	-	SI	uc003fei.3,p.W609L|ENST00000264382,p.W609L|NM_001041,p.W609L	retained_intron, protein_coding, nonsense_mediated_decay	uc003fei.3	nonsynonymous SNV	exon16	c.G1826T	p.W609L	HAAHWLGDNTASWEQMEWSITGMLE	HAAHWLGDNTASLEQMEWSITGMLE	1.0	1.0	unscreened	-	3466_3:164764690-164764690 C>A_HAAHWLGDNTASLEQMEWSITGMLE
6:155450368-155450368 C>T	1.0	3466	MELANOMA	-	-	-	-	TIAM2	NM_012454,p.S4F|ENST00000538270,p.S4F|ENST00000545347,p.S4F|ENST00000535583,p.S4F|uc003qqb.3,p.S4F|ENST00000461783,p.S4F|ENST00000535231,p.S4F|ENST00000360366,p.S4F|ENST00000529824,p.S4F|ENST00000318981,p.S4F|ENST00000528535,p.S4F|uc003qqe.3,p.S4F|ENST00000456144,p.S4F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003qqe.3	nonsynonymous SNV	exon3	c.C11T	p.S4F	MGNSDSQYTLQGSKNH	MGNFDSQYTLQGSKNH	5.0	9.0	unscreened	-	3466_6:155450368-155450368 C>T_MGNFDSQYTLQGSKNH
11:61249367-61249367 C>T	0.0	3466	MELANOMA	-	-	-	-	PPP1R32	ENST00000338608,p.A29V|NM_145017,p.A29V|uc001nru.2,p.A29V|NM_001170753,p.A29V|uc009ynq.2,p.A29V|ENST00000432063,p.A29V	protein_coding	uc009ynq.2	nonsynonymous SNV	exon2	c.C86T	p.A29V	SSGGYTDPLKFYATSYCTAYGREDF	SSGGYTDPLKFYVTSYCTAYGREDF	3.0	4.0	unscreened	-	3466_11:61249367-61249367 C>T_SSGGYTDPLKFYVTSYCTAYGREDF
19:56379164-56379164 C>T	0.0	3466	MELANOMA	-	-	-	-	NLRP4	NM_134444,p.S759F|uc002qmf.3,p.S684F|uc002qmd.4,p.S759F|ENST00000587891,p.S684F|ENST00000301295,p.S759F	protein_coding	uc002qmf.3	nonsynonymous SNV	exon4	c.C2051T	p.S684F	LTNNKKLTYLNVSCNQLDTGVPLLC	LTNNKKLTYLNVFCNQLDTGVPLLC	1.0	7.0	unscreened	-	3466_19:56379164-56379164 C>T_LTNNKKLTYLNVFCNQLDTGVPLLC
15:83222631-83222631 C>T	1.0	3466	MELANOMA	-	-	-	-	CPEB1	ENST00000568128,p.E324K|NM_030594,p.E324K|uc010uof.2,p.E249K|NM_001288820,p.E98K|NM_001079534,p.E249K|uc002bir.3,p.E249K|ENST00000398591,p.E249K|ENST00000261723,p.E327K|uc010uod.2,p.E98K|NM_001079533,p.E249K|uc002bis.3,p.E249K|ENST00000423133,p.E249K|NM_001079535,p.E249K|uc002biq.3,p.E249K|ENST00000562019,p.E324K|ENST00000568757,p.E249K|ENST00000563800,p.E351K|uc010uoe.2,p.E327K|ENST00000398592,p.E98K|NM_001288819,p.E249K|uc002bip.3,p.E98K|uc002biu.3,p.E351K|ENST00000450751,p.E249K|uc002bit.3,p.E384K|uc002biv.3,p.E324K|ENST00000564522,p.E249K	 processed_transcript,retained_intron, protein_coding, nonsense_mediated_decay	uc010uof.2	nonsynonymous SNV	exon6	c.G745A	p.E249K	KVFLGGVPWDITEAGLVNTFRVFGS	KVFLGGVPWDITKAGLVNTFRVFGS	5.0	8.0	unscreened	-	3466_15:83222631-83222631 C>T_KVFLGGVPWDITKAGLVNTFRVFGS
10:43597801-43597801 C>T	0.0	3466	MELANOMA	-	-	-	1	RET	NM_020630,p.P117S|NM_020975,p.P117S|ENST00000340058,p.P117S|ENST00000355710,p.P117S|uc001jak.1,p.P117S|uc001jal.3,p.P117S	retained_intron, protein_coding	uc001jal.3	nonsynonymous SNV	exon3	c.C349T	p.P117S	SWEKLSVRNRGFPLLTVYLKVFLSP	SWEKLSVRNRGFSLLTVYLKVFLSP	1.0	5.0	unscreened	-	3466_10:43597801-43597801 C>T_SWEKLSVRNRGFSLLTVYLKVFLSP
19:55107199-55107199 G>A	0.0	3466	MELANOMA	-	-	-	-	LILRA1	uc010yfg.1,p.D251N|NM_006863,p.D253N|NM_001278319,p.D253N|uc010yfh.2,p.D253N|ENST00000251372,p.D253N|uc002qgh.2,p.D253N	retained_intron, protein_coding, processed_transcript	uc010yfh.2	nonsynonymous SNV	exon5	c.G757A	p.D253N	SLTLQCVSDVSYDRFVLYKEGERDF	SLTLQCVSDVSYNRFVLYKEGERDF	2.0	8.0	unscreened	-	3466_19:55107199-55107199 G>A_SLTLQCVSDVSYNRFVLYKEGERDF
5:13719029-13719029 G>A	0.0	3466	MELANOMA	-	-	-	-	DNAH5	uc003jfc.2,p.P322L|NM_001369,p.P4154L|uc003jfd.2,p.P4154L|ENST00000265104,p.P4154L	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon72	c.C12461T	p.P4154L	LLQMSIKFANDPPQGLRAGLKRTYS	LLQMSIKFANDPLQGLRAGLKRTYS	1.0	2.0	unscreened	-	3466_5:13719029-13719029 G>A_LLQMSIKFANDPLQGLRAGLKRTYS
22:25623887-25623887 C>T	0.0	3466	MELANOMA	0.0005	-	-	-	CRYBB2	uc003abp.1,p.R81C|NM_000496,p.R81C|ENST00000398215,p.R81C	protein_coding	uc003abp.1	nonsynonymous SNV	exon4	c.C241T	p.R81C	GEQFVFEKGEYPRWDSWTSSRRTDS	GEQFVFEKGEYPCWDSWTSSRRTDS	2.0	7.0	unscreened	-	3466_22:25623887-25623887 C>T_GEQFVFEKGEYPCWDSWTSSRRTDS
16:51174110-51174110 G>A	0.0	3466	MELANOMA	-	-	ID=COSM228648;OCCURENCE=1(skin)	-	SALL1	NM_001127892,p.P578S|ENST00000440970,p.P578S|NM_002968,p.P675S|ENST00000570206,p.P578S|uc021tid.1,p.P578S|ENST00000251020,p.P675S|uc021tif.1,p.P578S|uc021tie.1,p.P675S	protein_coding, processed_transcript	uc021tif.1	nonsynonymous SNV	exon2	c.C1732T	p.P578S	LPLMSEQFKAKFPFGGLLDSAQASE	LPLMSEQFKAKFSFGGLLDSAQASE	1.0	3.0	unscreened	-	3466_16:51174110-51174110 G>A_LPLMSEQFKAKFSFGGLLDSAQASE
15:74636270-74636270 G>A	0.0	3466	MELANOMA	-	-	-	-	CYP11A1	NM_001099773,p.A72V|ENST00000566674,p.A72V|ENST00000268053,p.A230V|uc010bjm.1,p.A72V|ENST00000419019,p.A72V|NM_000781,p.A230V|uc002axt.2,p.A230V|ENST00000450547,p.A72V|ENST00000358632,p.A72V|uc002axs.2,p.A72V|ENST00000435365,p.A230V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bjm.1	nonsynonymous SNV	exon3	c.C215T	p.A72V	RQGMLEEVVNPEAQRFIDAIYQMFH	RQGMLEEVVNPEVQRFIDAIYQMFH	1.0	7.0	unscreened	-	3466_15:74636270-74636270 G>A_RQGMLEEVVNPEVQRFIDAIYQMFH
19:13198938-13198938 C>T	1.0	3466	MELANOMA	-	-	-	-	NFIX	ENST00000358552,p.P422S|ENST00000592199,p.P464S|NM_001271043,p.P472S|uc010xmx.2,p.P472S|ENST00000585575,p.P456S|ENST00000588228,p.P417S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010xmx.2	nonsynonymous SNV	exon9	c.C1414T	p.P472S	STSTAPDGAALTPPSPSFATTGASS	STSTAPDGAALTSPSPSFATTGASS	9.0	5.0	-	-	3466_19:13198938-13198938 C>T_STSTAPDGAALTSPSPSFATTGASS
10:48390849-48390849 G>A	0.0	3466	MELANOMA	-	-	-	-	RBP3	NM_002900,p.S10F|uc001jez.3,p.S10F|ENST00000224600,p.S10F	protein_coding	uc001jez.3	nonsynonymous SNV	exon1	c.C29T	p.S10F	MMREWVLLMSVLLCGLAGPTHL	MMREWVLLMFVLLCGLAGPTHL	1.0	5.0	unscreened	-	3466_10:48390849-48390849 G>A_MMREWVLLMFVLLCGLAGPTHL
19:52250115-52250115 C>T	1.0	3466	MELANOMA	-	-	-	-	FPR1	NM_002029,p.G45R|ENST00000595042,p.G45R|uc002pxq.3,p.G45R|uc021uyo.1,p.G45R|ENST00000600815,p.G45R|uc021uyn.1,p.G45R|ENST00000304748,p.G45R|NM_001193306,p.G45R	protein_coding	uc021uyo.1	nonsynonymous SNV	exon1	c.G133A	p.G45R	FAVTFVLGVLGNGLVIWVAGFRMTH	FAVTFVLGVLGNRLVIWVAGFRMTH	5.0	8.0	-	-	3466_19:52250115-52250115 C>T_FAVTFVLGVLGNRLVIWVAGFRMTH
15:42445508-42445508 C>T	0.0	3466	MELANOMA	-	-	-	-	PLA2G4F	ENST00000382396,p.G175E|ENST00000397272,p.G175E|ENST00000569985,p.G175E|uc001zoz.3,p.G175E|NM_213600,p.G175E	retained_intron, protein_coding, nonsense_mediated_decay	uc001zoz.3	nonsynonymous SNV	exon6	c.G524A	p.G175E	KSQVPASEVITNGVLVAHPCLRIQG	KSQVPASEVITNEVLVAHPCLRIQG	1.0	1.0	unscreened	-	3466_15:42445508-42445508 C>T_KSQVPASEVITNEVLVAHPCLRIQG
16:67214191-67214191 G>A	1.0	3466	MELANOMA	-	-	-	-	KIAA0895L	uc002eru.3,p.P108L|NM_001040715,p.P108L|uc002ert.3,p.P108L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002eru.3	nonsynonymous SNV	exon3	c.C323T	p.P108L	TLGRPPPGRGRNPGGGTLRPAASLP	TLGRPPPGRGRNLGGGTLRPAASLP	5.0	2.0	-	-	3466_16:67214191-67214191 G>A_TLGRPPPGRGRNLGGGTLRPAASLP
2:215274989-215274989 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1691957;OCCURENCE=1(skin)	-	SPAG16	uc002ver.4,p.E562K|ENST00000331683,p.E616K|uc002veq.4,p.E616K|uc010zjk.3,p.E522K|ENST00000374309,p.E522K|NM_024532,p.E616K|ENST00000451561,p.E240K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zjk.3	nonsynonymous SNV	exon15	c.G1564A	p.E522K	NEAHTVVFSHDGEILFSGGSDGTVR	NEAHTVVFSHDGKILFSGGSDGTVR	5.0	6.0	-	-	3466_2:215274989-215274989 G>A_NEAHTVVFSHDGKILFSGGSDGTVR
X:12937218-12937218 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1714639;OCCURENCE=1(skin)	-	TLR8	ENST00000311912,p.G38D|uc004cve.3,p.G20D|NM_016610,p.G38D|NM_138636,p.G20D|uc004cvd.3,p.G38D|ENST00000218032,p.G20D	protein_coding	uc004cve.3	nonsynonymous SNV	exon2	c.G59A	p.G20D	SSMLTCIFLLISGSCELCAEENFSR	SSMLTCIFLLISDSCELCAEENFSR	4.0	9.0	unscreened	-	3466_X:12937218-12937218 G>A_SSMLTCIFLLISDSCELCAEENFSR
17:74017950-74017950 C>T	0.0	3466	MELANOMA	-	-	-	-	EVPL	uc010wss.1,p.E269K|NM_001988,p.E269K|ENST00000586740,p.E269K|ENST00000301607,p.E269K|uc002jqi.2,p.E269K	retained_intron, protein_coding	uc010wss.1	nonsynonymous SNV	exon7	c.G805A	p.E269K	LMADPAGVRREYEHFKQHELLSQEQ	LMADPAGVRREYKHFKQHELLSQEQ	1.0	9.0	unscreened	-	3466_17:74017950-74017950 C>T_LMADPAGVRREYKHFKQHELLSQEQ
2:27302096-27302096 C>T	0.0	3466	MELANOMA	-	-	-	-	EMILIN1	uc002rii.4,p.R55C|NM_007046,p.R55C|uc010eyq.2,p.R55C|ENST00000380320,p.R55C	protein_coding	uc010eyq.2	nonsynonymous SNV	exon1	c.C163T	p.R55C	GPQAQIAPRPASRHRNWCAYVVTRT	GPQAQIAPRPASCHRNWCAYVVTRT	8.0	4.0	-	-	3466_2:27302096-27302096 C>T_GPQAQIAPRPASCHRNWCAYVVTRT
1:41298745-41298745 G>A	0.0	3466	MELANOMA	-	-	-	-	KCNQ4	NM_172163,p.D471N|uc001cgi.2,p.D471N|ENST00000509682,p.D471N|NM_004700,p.D525N|uc001cgh.2,p.D525N|ENST00000347132,p.D525N	protein_coding, processed_transcript	uc001cgi.2	nonsynonymous SNV	exon10	c.G1411A	p.D471N	EEKSYQCELTVDDIMPAVKTVIRSI	EEKSYQCELTVDNIMPAVKTVIRSI	1.0	8.0	unscreened	-	3466_1:41298745-41298745 G>A_EEKSYQCELTVDNIMPAVKTVIRSI
12:4920427-4920427 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1704919;OCCURENCE=1(skin)	-	KCNA6	NM_002235,p.P407L|uc021qtr.1,p.P407L|ENST00000433855,p.P407L|ENST00000280684,p.P407L|uc001qng.3,p.P407L	protein_coding	uc021qtr.1	nonsynonymous SNV	exon1	c.C1220T	p.P407L	YFAEADDDDSLFPSIPDAFWWAVVT	YFAEADDDDSLFLSIPDAFWWAVVT	1.0	5.0	unscreened	-	3466_12:4920427-4920427 C>T_YFAEADDDDSLFLSIPDAFWWAVVT
21:15981886-15981886 C>T	0.0	3466	MELANOMA	-	-	-	-	LOC388813	ENST00000400562,p.G80E|ENST00000435732,p.G72E|NM_001256579,p.G52E|uc031rux.1,p.G52E	retained_intron, protein_coding, processed_transcript	uc031rux.1	nonsynonymous SNV	exon4	c.G155A	p.G52E	FRRFMSENKIFEGKTVNDKIWQEHS	FRRFMSENKIFEEKTVNDKIWQEHS	1.0	1.0	unscreened	-	3466_21:15981886-15981886 C>T_FRRFMSENKIFEEKTVNDKIWQEHS
19:44933593-44933593 G>A	1.0	3466	MELANOMA	-	-	-	-	ZNF229	uc002oze.1,p.H455Y|ENST00000588931,p.H455Y|NM_014518,p.H455Y|uc010ejk.1,p.H109Y|uc010ejl.1,p.H449Y|ENST00000291187,p.H449Y|NM_001278510,p.H449Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ejl.1	nonsynonymous SNV	exon6	c.C1345T	p.H449Y	CAKSALHKHQHIHPGEKPYSCGECG	CAKSALHKHQHIYPGEKPYSCGECG	5.0	8.0	unscreened	-	3466_19:44933593-44933593 G>A_CAKSALHKHQHIYPGEKPYSCGECG
6:35965580-35965580 G>A	0.0	3466	MELANOMA	-	-	-	-	SLC26A8	NM_001193476,p.L188F|ENST00000394602,p.L188F|NM_052961,p.L188F|uc003olm.3,p.L188F|NM_138718,p.L188F|ENST00000490799,p.L188F|uc003oln.3,p.L188F|uc003oll.3,p.L188F|ENST00000355574,p.L188F	retained_intron, protein_coding, nonsense_mediated_decay	uc003oln.3	nonsynonymous SNV	exon5	c.C562T	p.L188F	SFVKNEFSAPSYLMGYNKSLSVVAT	SFVKNEFSAPSYFMGYNKSLSVVAT	1.0	9.0	unscreened	-	3466_6:35965580-35965580 G>A_SFVKNEFSAPSYFMGYNKSLSVVAT
20:47782633-47782633 G>A	1.0	3466	MELANOMA	-	-	-	-	STAU1	uc002xud.3,p.P36S|NM_017453,p.P36S|uc002xug.3,p.P36S|ENST00000371856,p.P36S	protein_coding	uc002xug.3	nonsynonymous SNV	exon3	c.C106T	p.P36S	NQSLLSQPLMSIPSTTSSLPSENAG	NQSLLSQPLMSISSTTSSLPSENAG	10.0	6.0	-	-	3466_20:47782633-47782633 G>A_NQSLLSQPLMSISSTTSSLPSENAG
2:179588619-179588619 C>T	0.0	3466	MELANOMA	-	-	-	-	TTN	uc021vsy.2,p.G5879R|uc031rqd.1,p.G6806R|uc031rqc.1,p.G7123R|NM_001267550,p.G7123R|ENST00000591111,p.G6806R|NM_133378,p.G5879R|ENST00000589042,p.G7123R|uc002umz.1,p.G2540R|ENST00000342992,p.G5879R|NM_001256850,p.G6806R	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon71	c.G20416A	p.G6806R	MGNYTCVAANVAGSDECRAVLTVQE	MGNYTCVAANVARSDECRAVLTVQE	5.0	1.0	unscreened	-	3466_2:179588619-179588619 C>T_MGNYTCVAANVARSDECRAVLTVQE
22:37892543-37892543 C>T	1.0	3466	MELANOMA	-	-	-	-	CARD10	ENST00000437756,p.E299K|NM_014550,p.E658K|uc003asw.1,p.E372K|uc003asy.1,p.E658K|uc003asx.1,p.E658K|ENST00000251973,p.E658K|ENST00000406271,p.E372K|ENST00000403299,p.E658K|ENST00000433485,p.E130K	retained_intron, protein_coding, processed_transcript	uc003asy.1	nonsynonymous SNV	exon13	c.G1972A	p.E658K	EPREQRVEAAGLEGACLEAEAQQRT	EPREQRVEAAGLKGACLEAEAQQRT	7.0	3.0	unscreened	-	3466_22:37892543-37892543 C>T_EPREQRVEAAGLKGACLEAEAQQRT
16:64981891-64981891 C>T	0.0	3466	MELANOMA	-	-	-	1	CDH11	uc002eoi.3,p.G669E|uc010vin.2,p.G543E|NM_001797,p.G669E|ENST00000268603,p.G669E|ENST00000566827,p.G543E	retained_intron, protein_coding, processed_transcript	uc010vin.2	nonsynonymous SNV	exon12	c.G1628A	p.G543E	RENIITYDDEGGGEEDTEAFDIATL	RENIITYDDEGGEEEDTEAFDIATL	10.0	3.0	unscreened	-	3466_16:64981891-64981891 C>T_RENIITYDDEGGEEEDTEAFDIATL
12:94603425-94603425 C>T	0.0	3466	MELANOMA	-	-	-	-	PLXNC1	uc001tdc.3,p.S500L|NM_005761,p.S500L|ENST00000258526,p.S500L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001tdc.3	nonsynonymous SNV	exon5	c.C1499T	p.S500L	VHSENLENWLDISSGAKKCPKIQII	VHSENLENWLDILSGAKKCPKIQII	7.0	9.0	unscreened	-	3466_12:94603425-94603425 C>T_VHSENLENWLDILSGAKKCPKIQII
14:38296443-38296443 C>T	0.0	3466	MELANOMA	-	-	-	1	FOXA1,SSTR1	uc001wuh.3,p.H357Y|ENST00000476979,p.H358Y|ENST00000382320,p.H438Y|ENST00000267368,p.H358Y|uc001wuj.3,p.H454Y|ENST00000478811,p.H455Y|ENST00000553443,p.H1724Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc001wuj.3	nonsynonymous SNV	exon12	c.C1360T	p.H454Y	TTAEFLTNRGVIHEFMGHKQNAMKD	TTAEFLTNRGVIYEFMGHKQNAMKD	1.0	4.0	unscreened	-	3466_14:38296443-38296443 C>T_TTAEFLTNRGVIYEFMGHKQNAMKD
8:24298648-24298648 G>A	0.0	3466	MELANOMA	-	-	-	-	ADAM7	NM_003817,p.M9I|ENST00000441335,p.M9I|ENST00000175238,p.M9I|ENST00000380789,p.M9I|uc003xeb.3,p.M9I|uc003xea.1,p.M9I	protein_coding	uc003xeb.3	nonsynonymous SNV	exon1	c.G27A	p.M9I	MLPGCIFLMILLIPQVKEKFI	MLPGCIFLIILLIPQVKEKFI	1.0	8.0	unscreened	-	3466_8:24298648-24298648 G>A_MLPGCIFLIILLIPQVKEKFI
11:5862259-5862259 G>A	0.0	3466	MELANOMA	-	-	-	-	OR52E6	uc010qzq.2,p.P290L|ENST00000329322,p.P290L|NM_001005167,p.P290L|ENST00000379946,p.P294L	protein_coding	uc010qzq.2	nonsynonymous SNV	exon1	c.C869T	p.P290L	ANLYVVVPPTLNPVIYGVRTKHIRE	ANLYVVVPPTLNLVIYGVRTKHIRE	1.0	8.0	unscreened	-	3466_11:5862259-5862259 G>A_ANLYVVVPPTLNLVIYGVRTKHIRE
2:179463929-179463929 T>C	0.0	3466	MELANOMA	-	-	-	-	TTN	NM_003319,p.K9799R|ENST00000460472,p.K9799R|uc031rqc.1,p.K18864R|uc021vtb.2,p.K9799R|uc031rqd.1,p.K17223R|NM_133432,p.K9924R|uc021vta.2,p.K9924R|ENST00000591111,p.K17223R|NM_001256850,p.K17223R|ENST00000589042,p.K18864R|ENST00000342992,p.K16296R|ENST00000342175,p.K9991R|NM_001267550,p.K18864R|ENST00000359218,p.K9924R|NM_133378,p.K16296R|uc021vsz.2,p.K9991R|uc021vsy.2,p.K16296R|NM_133437,p.K9991R	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon240	c.A51668G	p.K17223R	GHEYVFRIMAQNKYGIGEPLDSEPE	GHEYVFRIMAQNRYGIGEPLDSEPE	5.0	7.0	unscreened	-	3466_2:179463929-179463929 T>C_GHEYVFRIMAQNRYGIGEPLDSEPE
7:82581736-82581736 G>A	0.0	3466	MELANOMA	-	-	-	-	PCLO	uc003uhx.2,p.P2845S|uc003uhv.2,p.P2845S|NM_014510,p.P2845S|ENST00000333891,p.P2845S|ENST00000423517,p.P2845S|NM_033026,p.P2845S	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon5	c.C8533T	p.P2845S	EPPYRIPSDQVFPIAREEAPINLSL	EPPYRIPSDQVFSIAREEAPINLSL	1.0	1.0	unscreened	-	3466_7:82581736-82581736 G>A_EPPYRIPSDQVFSIAREEAPINLSL
11:55904856-55904856 C>T	0.0	3466	MELANOMA	-	-	-	-	OR8J3	ENST00000301529,p.M113I|NM_001004064,p.M113I|uc010riz.2,p.M113I	protein_coding	uc010riz.2	nonsynonymous SNV	exon1	c.G339A	p.M113I	LGGFLFFIVSEVMMLAVMAYDRYVA	LGGFLFFIVSEVIMLAVMAYDRYVA	1.0	5.0	unscreened	-	3466_11:55904856-55904856 C>T_LGGFLFFIVSEVIMLAVMAYDRYVA
11:5443935-5443935 C>T, 11:5443936-5443936 C>A	0.0	3466	MELANOMA	-	-	ID=COSM1492594;OCCURENCE=1(kidney)	-	OR51Q1	ENST00000300778,p.P169S|uc010qzd.2,p.P169S|NM_001004757,p.P169S	protein_coding	uc010qzd.2	nonsynonymous SNV	exon1	c.C505T	p.P169S	AVLPSLFLLKRLPFCHSHLLSRSYC	AVLPSLFLLKRLYFCHSHLLSRSYC	1.0	8.0	unscreened	Dinucleotide variant, 11:5443936-5443936 C>A, residue 13 P>Y PR	3466_11:5443935-5443935 C>T, 11:5443936-5443936 C>A_AVLPSLFLLKRLYFCHSHLLSRSYC
17:72613328-72613328 A>T	0.0	3466	MELANOMA	-	-	-	-	CD300E	NM_181449,p.I106N|ENST00000392619,p.I133N|uc002jlb.2,p.I106N|ENST00000328630,p.I106N|ENST00000426295,p.I147N|ENST00000412268,p.I108N	protein_coding	uc002jlb.2	nonsynonymous SNV	exon2	c.T317A	p.I106N	LNEDDAGSYWCKIQTVWVLDSWSRD	LNEDDAGSYWCKNQTVWVLDSWSRD	3.0	9.0	unscreened	-	3466_17:72613328-72613328 A>T_LNEDDAGSYWCKNQTVWVLDSWSRD
2:179586690-179586690 C>T	0.0	3466	MELANOMA	-	-	-	-	TTN	uc021vsy.2,p.G6323E|NM_001267550,p.G7567E|NM_133378,p.G6323E|ENST00000589042,p.G7567E|NM_001256850,p.G7250E|uc031rqc.1,p.G7567E|ENST00000591111,p.G7250E|ENST00000342992,p.G6323E|uc031rqd.1,p.G7250E|uc002umz.1,p.G2984E	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon76	c.G21749A	p.G7250E	IRPGGNYTITCVGNTPHLRILKVGK	IRPGGNYTITCVENTPHLRILKVGK	5.0	8.0	unscreened	-	3466_2:179586690-179586690 C>T_IRPGGNYTITCVENTPHLRILKVGK
6:33623560-33623560 T>G	1.0	3466	MELANOMA	-	-	-	-	ITPR3	NM_002224,p.C60G|ENST00000605930,p.C60G|ENST00000374316,p.C60G|uc021ywr.1,p.C60G	protein_coding	uc021ywr.1	nonsynonymous SNV	exon3	c.T178G	p.C60G	PPKKFRDCLFKVCPMNRYSAQKQYW	PPKKFRDCLFKVGPMNRYSAQKQYW	10.0	9.0	-	-	3466_6:33623560-33623560 T>G_PPKKFRDCLFKVGPMNRYSAQKQYW
10:105238665-105238665 G>A	0.0	3466	MELANOMA	-	-	-	-	CALHM3	ENST00000369783,p.P42L|NM_001129742,p.P42L|uc001kxg.4,p.P42L	protein_coding	uc001kxg.4	nonsynonymous SNV	exon1	c.C125T	p.P42L	TVKLYSSFDFNCPCLVHYNALYGLG	TVKLYSSFDFNCLCLVHYNALYGLG	1.0	3.0	unscreened	-	3466_10:105238665-105238665 G>A_TVKLYSSFDFNCLCLVHYNALYGLG
5:36262135-36262135 C>T	0.0	3466	MELANOMA	-	-	-	-	RANBP3L	NM_145000,p.G164R|ENST00000515759,p.G164R|NM_001161429,p.G189R|ENST00000296604,p.G164R|uc011cow.2,p.G189R|uc003jkh.3,p.G164R|ENST00000502994,p.G189R	protein_coding	uc011cow.2	nonsynonymous SNV	exon8	c.G565A	p.G189R	KTKEKTNNKISEGNSYLLSENLSRA	KTKEKTNNKISERNSYLLSENLSRA	2.0	1.0	unscreened	-	3466_5:36262135-36262135 C>T_KTKEKTNNKISERNSYLLSENLSRA
10:70644580-70644580 C>T	0.0	3466	MELANOMA	-	-	-	-	STOX1	NM_001130161,p.P343L|ENST00000298596,p.P343L|uc001joq.3,p.P233L|ENST00000399169,p.P343L|uc021prw.1,p.P233L|ENST00000421961,p.P233L|uc001jos.2,p.P343L|NM_152709,p.P343L	protein_coding	uc021prw.1	nonsynonymous SNV	exon3	c.C698T	p.P233L	SSFSAQFPPEEWPVRDEDDLDNIPR	SSFSAQFPPEEWLVRDEDDLDNIPR	2.0	5.0	unscreened	-	3466_10:70644580-70644580 C>T_SSFSAQFPPEEWLVRDEDDLDNIPR
20:52611591-52611591 G>A	0.0	3466	MELANOMA	-	-	-	-	BCAS1	NM_003657,p.S296L|uc002xwt.2,p.S296L|ENST00000395961,p.S296L|uc010zzb.1,p.S199L|uc010gim.2,p.S199L|uc010gil.1,p.S296L|ENST00000371440,p.S296L|ENST00000448484,p.S158L|ENST00000371435,p.S296L|uc002xws.2,p.S296L	protein_coding	uc010zzb.1	nonsynonymous SNV	exon3	c.C596T	p.S199L	NNSIMSFFKTLVSPNKAETKKDPED	NNSIMSFFKTLVLPNKAETKKDPED	1.0	6.0	unscreened	-	3466_20:52611591-52611591 G>A_NNSIMSFFKTLVLPNKAETKKDPED
7:82581217-82581217 C>T	0.0	3466	MELANOMA	-	-	-	-	PCLO	uc003uhv.2,p.G3018R|ENST00000333891,p.G3018R|NM_033026,p.G3018R|uc003uhx.2,p.G3018R|NM_014510,p.G3018R|ENST00000423517,p.G3018R	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon5	c.G9052A	p.G3018R	FYKSKNAFDYSEGTDTAVDLTSGRV	FYKSKNAFDYSERTDTAVDLTSGRV	1.0	9.0	unscreened	-	3466_7:82581217-82581217 C>T_FYKSKNAFDYSERTDTAVDLTSGRV
3:50197074-50197074 C>T	0.0	3466	MELANOMA	-	-	-	-	SEMA3F	ENST00000434342,p.L7F|ENST00000002829,p.L7F|uc003cyk.3,p.L7F|ENST00000426511,p.L7F|uc003cyj.3,p.L7F|ENST00000450338,p.L7F|NM_004186,p.L7F|ENST00000414301,p.L7F	retained_intron, protein_coding	uc003cyk.3	nonsynonymous SNV	exon2	c.C19T	p.L7F	MLVAGLLLWASLLTGAWPS	MLVAGLFLWASLLTGAWPS	4.0	5.0	unscreened	-	3466_3:50197074-50197074 C>T_MLVAGLFLWASLLTGAWPS
2:178528601-178528601 A>C	0.0	3466	MELANOMA	-	-	-	-	PDE11A	ENST00000286063,p.L880W|ENST00000449286,p.L522W|ENST00000450799,p.L71W|ENST00000389683,p.L436W|uc002ult.1,p.L630W|uc002ulp.3,p.L436W|ENST00000409504,p.L522W|uc002ulr.3,p.L630W|NM_001077358,p.L522W|ENST00000358450,p.L630W|uc002uls.1,p.L522W|uc002ulu.1,p.L522W|uc002ulq.3,p.L880W|NM_001077196,p.L436W|NM_016953,p.L880W|NM_001077197,p.L630W|uc010zfd.2,p.L71W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zfd.2	nonsynonymous SNV	exon4	c.T212G	p.L71W	LQLEWIDSICMPLYQALVKVNVKLK	LQLEWIDSICMPWYQALVKVNVKLK	1.0	3.0	unscreened	-	3466_2:178528601-178528601 A>C_LQLEWIDSICMPWYQALVKVNVKLK
10:135086519-135086519 G>A	0.0	3466	MELANOMA	-	-	-	-	ADAM8	NM_001164489,p.S193F|ENST00000415217,p.S193F|ENST00000445355,p.S193F|NM_001109,p.S193F|uc021qbe.1,p.S193F|uc009ybi.3,p.S193F|NM_001164490,p.S154F|uc010qvb.1,p.S168F|uc010qva.2,p.S154F|ENST00000485491,p.S154F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qbe.1	nonsynonymous SNV	exon7	c.C578T	p.S193F	RTAAVFRPRPGDSLPSRETRYVELY	RTAAVFRPRPGDFLPSRETRYVELY	6.0	4.0	unscreened	-	3466_10:135086519-135086519 G>A_RTAAVFRPRPGDFLPSRETRYVELY
7:113519234-113519234 G>A	0.0	3466	MELANOMA	-	-	-	-	PPP1R3A	uc010ljy.1,p.S638L|ENST00000284601,p.S638L|NM_002711,p.S638L	protein_coding, nonsense_mediated_decay	uc010ljy.1	nonsynonymous SNV	exon4	c.C1913T	p.S638L	LRNDYLFQVEEKSGGINSEDQDNSP	LRNDYLFQVEEKLGGINSEDQDNSP	1.0	9.0	unscreened	-	3466_7:113519234-113519234 G>A_LRNDYLFQVEEKLGGINSEDQDNSP
7:83031988-83031988 G>A	0.0	3466	MELANOMA	-	-	-	-	SEMA3E	uc022agy.1,p.S308L|NM_001178129,p.S308L|ENST00000427262,p.S308L|uc003uhy.2,p.S368L|NM_012431,p.S368L|ENST00000307792,p.S368L	protein_coding, nonsense_mediated_decay	uc022agy.1	nonsynonymous SNV	exon10	c.C923T	p.S308L	PYAHKEGPEYHWSVYEGKVPYPRPG	PYAHKEGPEYHWLVYEGKVPYPRPG	4.0	1.0	unscreened	-	3466_7:83031988-83031988 G>A_PYAHKEGPEYHWLVYEGKVPYPRPG
3:14863047-14863047 G>A	0.0	3466	MELANOMA	-	-	ID=COSM3673862,COSM3673861;OCCURENCE=1(prostate)	-	FGD5	ENST00000543601,p.M582I|uc011avk.2,p.M823I|uc003bzc.3,p.M823I|ENST00000285046,p.M823I|NM_152536,p.M823I	retained_intron, protein_coding, processed_transcript	uc011avk.2	nonsynonymous SNV	exon1	c.G2469A	p.M823I	LSTANENDGYVDMSSFNAFESKQQS	LSTANENDGYVDISSFNAFESKQQS	5.0	4.0	unscreened	-	3466_3:14863047-14863047 G>A_LSTANENDGYVDISSFNAFESKQQS
3:58639508-58639508 C>G	0.0	3466	MELANOMA	-	-	-	-	FAM3D	ENST00000498347,p.G5A|ENST00000483787,p.G5A|uc003dkq.3,p.G5A|ENST00000358781,p.G5A|NM_138805,p.G5A	protein_coding, nonsense_mediated_decay	uc003dkq.3	nonsynonymous SNV	exon3	c.G14C	p.G5A	MRVSGVLRLLALIFAIV	MRVSAVLRLLALIFAIV	1.0	5.0	unscreened	-	3466_3:58639508-58639508 C>G_MRVSAVLRLLALIFAIV
7:131883320-131883320 G>A	1.0	3466	MELANOMA	-	-	ID=COSM1085636,COSM1085635;OCCURENCE=1(large_intestine),1(endometrium)	-	PLXNA4	ENST00000359827,p.R888C|uc003vra.4,p.R888C|NM_020911,p.R888C|ENST00000321063,p.R888C	retained_intron, protein_coding	uc003vra.4	nonsynonymous SNV	exon13	c.C2662T	p.R888C	VTIRGENLGLEFRDIASHVKVAGVE	VTIRGENLGLEFCDIASHVKVAGVE	5.0	9.0	unscreened	-	3466_7:131883320-131883320 G>A_VTIRGENLGLEFCDIASHVKVAGVE
2:228155472-228155472 G>A	0.0	3466	MELANOMA	-	-	-	-	COL4A3	NM_000091,p.G1027E|ENST00000304990,p.G64E|uc002vom.2,p.G1027E|ENST00000396578,p.G1027E	retained_intron, protein_coding, processed_transcript	uc002vom.2	nonsynonymous SNV	exon37	c.G3080A	p.G1027E	GSMGNMGMPGSKGKRGTLGFPGRAG	GSMGNMGMPGSKEKRGTLGFPGRAG	1.0	2.0	unscreened	-	3466_2:228155472-228155472 G>A_GSMGNMGMPGSKEKRGTLGFPGRAG
16:1263783-1263783 C>T	0.0	3466	MELANOMA	-	-	-	-	CACNA1H	uc010brj.3,p.A305V	retained_intron, protein_coding	uc010brj.3	nonsynonymous SNV	exon9	c.C914T	p.A305V	SKALPVAVAVAEAQRRPYYADYSPT	SKALPVAVAVAEVQRRPYYADYSPT	2.0	3.0	unscreened	-	3466_16:1263783-1263783 C>T_SKALPVAVAVAEVQRRPYYADYSPT
11:7982828-7982828 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1703561;OCCURENCE=1(skin)	-	NLRP10	uc001mfv.1,p.E111K|NM_176821,p.E111K|ENST00000328600,p.E111K	protein_coding	uc001mfv.1	nonsynonymous SNV	exon2	c.G331A	p.E111K	REVYREHVRCLEEWQEAGVNGRYNQ	REVYREHVRCLEKWQEAGVNGRYNQ	1.0	1.0	unscreened	-	3466_11:7982828-7982828 C>T_REVYREHVRCLEKWQEAGVNGRYNQ
8:77767232-77767232 G>A	0.0	3466	MELANOMA	-	-	-	-	ZFHX4	NM_024721,p.S2692N|ENST00000050961,p.S2647N|ENST00000521891,p.S2692N|uc003yaw.1,p.S2647N|uc003yau.2,p.S2692N|ENST00000518282,p.S2666N|ENST00000455469,p.S2647N	retained_intron, protein_coding, nonsense_mediated_decay	uc003yaw.1	nonsynonymous SNV	exon9	c.G7940A	p.S2647N	CRALFKAKSALESHIRSRHWNEGKQ	CRALFKAKSALENHIRSRHWNEGKQ	4.0	1.0	unscreened	-	3466_8:77767232-77767232 G>A_CRALFKAKSALENHIRSRHWNEGKQ
15:53992099-53992099 G>A	0.0	3466	MELANOMA	-	-	ID=COSM225357;OCCURENCE=1(NS)	-	WDR72	uc002acj.2,p.S538F|uc031qse.1,p.S538F|NM_182758,p.S538F|ENST00000559418,p.S548F|ENST00000396328,p.S538F|ENST00000560036,p.S538F|uc010bfi.1,p.S538F|ENST00000557913,p.S535F|ENST00000360509,p.S538F	protein_coding, processed_transcript	uc031qse.1	nonsynonymous SNV	exon13	c.C1613T	p.S538F	GEQIICCVCGDHSVALLHLEGKSCL	GEQIICCVCGDHFVALLHLEGKSCL	3.0	2.0	unscreened	-	3466_15:53992099-53992099 G>A_GEQIICCVCGDHFVALLHLEGKSCL
11:118968584-118968584 G>A	1.0	3466	MELANOMA	-	-	-	-	DPAGT1	uc001pvi.3,p.P300S|ENST00000354202,p.P300S|ENST00000432443,p.P193S|NM_001382,p.P300S|ENST00000409993,p.P300S|uc010rza.2,p.P193S|uc001pvj.3,p.P193S|uc001pvk.3,p.P128S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rza.2	nonsynonymous SNV	exon5	c.C577T	p.P193S	YSLPQLLHIIPCPRHRIPRLNIKTG	YSLPQLLHIIPCSRHRIPRLNIKTG	10.0	6.0	-	-	3466_11:118968584-118968584 G>A_YSLPQLLHIIPCSRHRIPRLNIKTG
19:56363603-56363603 G>A	0.0	3466	MELANOMA	-	-	-	-	NLRP4	ENST00000346986,p.E53K|NM_134444,p.E53K|ENST00000587464,p.E53K|ENST00000301295,p.E53K|uc002qmd.4,p.E53K	protein_coding	uc002qmd.4	nonsynonymous SNV	exon2	c.G157A	p.E53K	QIPWTEVKKASREELANLLIKHYEE	QIPWTEVKKASRKELANLLIKHYEE	1.0	2.0	unscreened	-	3466_19:56363603-56363603 G>A_QIPWTEVKKASRKELANLLIKHYEE
6:49409599-49409599 G>A	1.0	3466	MELANOMA	0.0009	-	-	-	MUT	uc003ozg.4,p.R588C|ENST00000274813,p.R588C|NM_000255,p.R588C	protein_coding	uc003ozg.4	nonsynonymous SNV	exon10	c.C1762T	p.R588C	HKANDRMVSGAYRQEFGESKEITSA	HKANDRMVSGAYCQEFGESKEITSA	7.0	1.0	unscreened	-	3466_6:49409599-49409599 G>A_HKANDRMVSGAYCQEFGESKEITSA
1:228582746-228582746 A>T	1.0	3466	MELANOMA	-	-	-	-	TRIM11	NM_145214,p.L356Q|uc010pvx.2,p.L355Q|ENST00000284551,p.L356Q|uc001hss.3,p.L356Q|ENST00000493030,p.L231Q	protein_coding, processed_transcript	uc010pvx.2	nonsynonymous SNV	exon6	c.T1064A	p.L355Q	WEVEVGDRTSWALGVCRENVNRKEK	WEVEVGDRTSWAQGVCRENVNRKEK	8.0	1.0	unscreened	-	3466_1:228582746-228582746 A>T_WEVEVGDRTSWAQGVCRENVNRKEK
9:71094435-71094435 C>T	0.0	3466	MELANOMA	-	-	-	-	PGM5	ENST00000396396,p.H421Y|NM_021965,p.H421Y|uc004agr.3,p.H421Y	retained_intron, protein_coding, processed_transcript	uc004agr.3	nonsynonymous SNV	exon8	c.C1261T	p.H421Y	ARKQSVEEIVRDHWAKFGRHYYCRF	ARKQSVEEIVRDYWAKFGRHYYCRF	2.0	9.0	unscreened	-	3466_9:71094435-71094435 C>T_ARKQSVEEIVRDYWAKFGRHYYCRF
13:115090732-115090732 C>A	1.0	3466	MELANOMA	-	-	-	-	CHAMP1	ENST00000361283,p.S472Y|NM_001164144,p.S472Y|uc010ahb.3,p.S472Y|NM_001164145,p.S472Y|uc021rmx.1,p.S472Y|uc010tko.2,p.S472Y|uc001vuv.3,p.S472Y|NM_032436,p.S472Y	protein_coding, processed_transcript	uc021rmx.1	nonsynonymous SNV	exon1	c.C1415A	p.S472Y	PASLDFPESQKSSRGGSPDLWKSSF	PASLDFPESQKSYRGGSPDLWKSSF	6.0	9.0	unscreened	-	3466_13:115090732-115090732 C>A_PASLDFPESQKSYRGGSPDLWKSSF
16:61687880-61687880 C>T	0.0	3466	MELANOMA	-	-	-	-	CDH8	uc002eog.2,p.E678K|ENST00000577730,p.E678K|NM_001796,p.E678K|ENST00000577390,p.E678K|ENST00000299345,p.E678K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002eog.2	nonsynonymous SNV	exon12	c.G2032A	p.E678K	RYDDEGGGEEDTEAFDIATLQNPDG	RYDDEGGGEEDTKAFDIATLQNPDG	1.0	1.0	unscreened	-	3466_16:61687880-61687880 C>T_RYDDEGGGEEDTKAFDIATLQNPDG
2:182399552-182399552 G>A	1.0	3466	MELANOMA	-	-	-	-	ITGA4	uc002unu.3,p.E965K|NM_000885,p.E965K|uc002unv.3,p.E210K|ENST00000397033,p.E965K	retained_intron, protein_coding, processed_transcript	uc002unv.3	nonsynonymous SNV	exon10	c.G628A	p.E210K	LNKDENVAHVLLEGLHHQRPKRYFT	LNKDENVAHVLLKGLHHQRPKRYFT	10.0	1.0	-	-	3466_2:182399552-182399552 G>A_LNKDENVAHVLLKGLHHQRPKRYFT
3:78795958-78795958 G>A	1.0	3466	MELANOMA	-	-	-	-	ROBO1	uc003dqb.2,p.P159S|ENST00000464233,p.P198S|uc003dqc.2,p.P159S|NM_001145845,p.P159S|NM_133631,p.P159S|ENST00000436010,p.P159S|NM_002941,p.P198S|ENST00000467549,p.P159S|uc003dqd.2,p.P159S|ENST00000495273,p.P159S|uc003dqe.2,p.P198S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003dqe.2	nonsynonymous SNV	exon5	c.C592T	p.P198S	PAVMECQPPRGHPEPTISWKKDGSP	PAVMECQPPRGHSEPTISWKKDGSP	9.0	4.0	-	-	3466_3:78795958-78795958 G>A_PAVMECQPPRGHSEPTISWKKDGSP
19:42083902-42083902 C>T	0.0	3466	MELANOMA	-	-	-	-	CEACAM21	ENST00000187608,p.R139C|uc002ore.4,p.R139C|uc002org.4,p.R139C|ENST00000401445,p.R139C|NM_033543,p.R139C|NM_001098506,p.R139C	protein_coding, processed_transcript, nonsense_mediated_decay	uc002org.4	nonsynonymous SNV	exon2	c.C415T	p.R139C	RNSQIEQASHHLRVYESVAQPSIQA	RNSQIEQASHHLCVYESVAQPSIQA	4.0	8.0	unscreened	-	3466_19:42083902-42083902 C>T_RNSQIEQASHHLCVYESVAQPSIQA
22:28504221-28504221 G>A	0.0	3466	MELANOMA	-	-	-	-	TTC28	ENST00000397906,p.R538W|NM_001145418,p.R538W|uc003adp.4,p.R538W	retained_intron, protein_coding, processed_transcript	uc003adp.4	nonsynonymous SNV	exon7	c.C1612T	p.R538W	ALGMYDQAVKYHRQELQISMEVNDR	ALGMYDQAVKYHWQELQISMEVNDR	4.0	2.0	unscreened	-	3466_22:28504221-28504221 G>A_ALGMYDQAVKYHWQELQISMEVNDR
6:55119985-55119985 C>T	0.0	3466	MELANOMA	-	-	-	-	HCRTR2	NM_001526,p.R152W|uc003pcl.3,p.R152W|ENST00000370862,p.R152W|uc010jzw.1,p.R87W	protein_coding	uc010jzw.1	nonsynonymous SNV	exon3	c.C259T	p.R87W	VSVLTLSCIALDRWYAICHPLMFKS	VSVLTLSCIALDWWYAICHPLMFKS	1.0	9.0	unscreened	-	3466_6:55119985-55119985 C>T_VSVLTLSCIALDWWYAICHPLMFKS
2:232262624-232262624 C>T	1.0	3466	MELANOMA	-	-	-	-	B3GNT7	ENST00000287590,p.P65L|NM_145236,p.P65L|uc002vrs.3,p.P65L	protein_coding, processed_transcript	uc002vrs.3	nonsynonymous SNV	exon2	c.C194T	p.P65L	GQLVNPNNFWKNPKDVAAPTPMASQ	GQLVNPNNFWKNLKDVAAPTPMASQ	8.0	8.0	unscreened	-	3466_2:232262624-232262624 C>T_GQLVNPNNFWKNLKDVAAPTPMASQ
7:100551629-100551629 C>T	0.0	3466	MELANOMA	-	-	-	-	MUC3A	ENST00000319509,p.P127L|uc003uxl.1,p.P27L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxl.1	nonsynonymous SNV	exon1	c.C80T	p.P27L	PISSFSTSIVVIPETPTQTPPVLTS	PISSFSTSIVVILETPTQTPPVLTS	2.0	1.0	unscreened	-	3466_7:100551629-100551629 C>T_PISSFSTSIVVILETPTQTPPVLTS
8:143695130-143695130 G>A	0.0	3466	MELANOMA	-	-	-	-	ARC	NM_015193,p.T168I|ENST00000356613,p.T168I|uc003ywn.2,p.T168I|uc022bca.1,p.T168I	protein_coding, processed_transcript	uc022bca.1	nonsynonymous SNV	exon1	c.C503T	p.T168I	ESYCHEADGYDYTVSPYAITPPPAA	ESYCHEADGYDYIVSPYAITPPPAA	1.0	1.0	unscreened	-	3466_8:143695130-143695130 G>A_ESYCHEADGYDYIVSPYAITPPPAA
3:42906917-42906917 C>T	0.0	3466	MELANOMA	-	-	ID=COSM583839;OCCURENCE=1(lung)	-	ACKR2	ENST00000442925,p.S308F|ENST00000273145,p.S308F|uc003cmf.3,p.S308F|uc021wwm.1,p.S308F|uc003cme.3,p.S308F|NM_001296,p.S308F|ENST00000422265,p.S308F	protein_coding, processed_transcript	uc021wwm.1	nonsynonymous SNV	exon1	c.C923T	p.S308F	VTESIAFLHCCFSPILYAFSSHRFR	VTESIAFLHCCFFPILYAFSSHRFR	2.0	5.0	unscreened	-	3466_3:42906917-42906917 C>T_VTESIAFLHCCFFPILYAFSSHRFR
11:6007457-6007457 G>A	0.0	3466	MELANOMA	-	-	-	-	OR52L1	uc001mcd.2,p.S235F|ENST00000332249,p.S235F|NM_001005173,p.S235F	protein_coding	uc001mcd.2	nonsynonymous SNV	exon1	c.C704T	p.S235F	LVIGLDVLAIGVSYAHILQAVLKVP	LVIGLDVLAIGVFYAHILQAVLKVP	1.0	2.0	unscreened	-	3466_11:6007457-6007457 G>A_LVIGLDVLAIGVFYAHILQAVLKVP
19:36342553-36342553 G>A	0.0	3466	MELANOMA	-	-	-	-	NPHS1	uc002oby.3,p.P27L|NM_004646,p.P27L|ENST00000353632,p.P27L|ENST00000378910,p.P27L	retained_intron, protein_coding	uc002oby.3	nonsynonymous SNV	exon2	c.C80T	p.P27L	GLLTEGLAQLAIPASVPRGFWALPE	GLLTEGLAQLAILASVPRGFWALPE	1.0	3.0	unscreened	-	3466_19:36342553-36342553 G>A_GLLTEGLAQLAILASVPRGFWALPE
11:7960722-7960722 C>T	0.0	3466	MELANOMA	-	-	-	-	OR10A3	NM_001003745,p.G116R|uc010rbi.2,p.G116R|ENST00000360759,p.G116R	protein_coding	uc010rbi.2	nonsynonymous SNV	exon1	c.G346A	p.G116R	ILLFGGTECFLLGAMAYDRFAAICH	ILLFGGTECFLLRAMAYDRFAAICH	1.0	3.0	unscreened	-	3466_11:7960722-7960722 C>T_ILLFGGTECFLLRAMAYDRFAAICH
11:62762107-62762107 G>A	0.0	3466	MELANOMA	-	-	-	-	SLC22A8	NM_001184733,p.L284F|uc001nwp.2,p.L375F|ENST00000336232,p.L375F|uc009yom.3,p.L252F|NM_001184736,p.L252F|ENST00000311438,p.L375F|ENST00000545207,p.L284F|ENST00000430500,p.L375F|uc001nwo.3,p.L375F|ENST00000535878,p.L252F|uc010rmm.2,p.L284F|uc009yon.3,p.L375F|NM_001184732,p.L375F|NM_004254,p.L375F	retained_intron, protein_coding, processed_transcript	uc010rmm.2	nonsynonymous SNV	exon8	c.C850T	p.L284F	GGVDVPAKFITILSLSYLGRHTTQA	GGVDVPAKFITIFSLSYLGRHTTQA	1.0	4.0	unscreened	-	3466_11:62762107-62762107 G>A_GGVDVPAKFITIFSLSYLGRHTTQA
9:113169739-113169739 G>A	0.0	3466	MELANOMA	-	-	-	-	SVEP1	ENST00000297826,p.S640L|ENST00000401783,p.S2714L|uc010mty.3,p.S640L|NM_153366,p.S2714L|uc010mtz.3,p.S2714L|ENST00000374469,p.S2691L	protein_coding, processed_transcript	uc010mtz.3	nonsynonymous SNV	exon38	c.C8141T	p.S2714L	DGTWNGSAPSCISIECDLPTAPENG	DGTWNGSAPSCILIECDLPTAPENG	4.0	9.0	unscreened	-	3466_9:113169739-113169739 G>A_DGTWNGSAPSCILIECDLPTAPENG
12:80180252-80180252 C>T	1.0	3466	MELANOMA	-	-	-	-	PPP1R12A	NM_001244992,p.E881K|ENST00000261207,p.E937K|uc010suc.2,p.E850K|uc001sza.3,p.E881K|ENST00000450142,p.E937K|uc001syz.3,p.E937K|NM_002480,p.E937K|NM_001143886,p.E850K|NM_001143885,p.E937K|uc010sud.2,p.E937K|ENST00000546369,p.E850K|ENST00000550107,p.E881K	retained_intron, protein_coding, nonsense_mediated_decay	uc010sud.2	nonsynonymous SNV	exon23	c.G2809A	p.E937K	EKDDSTDFKKLYEQILAENEKLKAQ	EKDDSTDFKKLYKQILAENEKLKAQ	10.0	9.0	-	-	3466_12:80180252-80180252 C>T_EKDDSTDFKKLYKQILAENEKLKAQ
6:166579315-166579315 G>A	0.0	3466	MELANOMA	-	-	-	-	T	uc003quv.2,p.S162F|uc003quu.2,p.S162F|NM_003181,p.S162F|ENST00000296946,p.S162F|ENST00000461348,p.S162F|ENST00000366876,p.S162F|NM_001270484,p.S162F|ENST00000366871,p.S162F|uc003qut.2,p.S162F	protein_coding	uc003quv.2	nonsynonymous SNV	exon4	c.C485T	p.S162F	NKLNGGGQIMLNSLHKYEPRIHIVR	NKLNGGGQIMLNFLHKYEPRIHIVR	1.0	9.0	unscreened	-	3466_6:166579315-166579315 G>A_NKLNGGGQIMLNFLHKYEPRIHIVR
12:2760762-2760762 C>T	0.0	3466	MELANOMA	-	-	-	-	CACNA1C	uc009zdw.1,p.P1323L|NM_001129829,p.P1323L|ENST00000344100,p.P1323L	retained_intron, protein_coding, processed_transcript	uc009zdw.1	nonsynonymous SNV	exon32	c.C3968T	p.P1323L	CSPSMGPSCSHPPLAVLTAPPVADG	CSPSMGPSCSHPLLAVLTAPPVADG	5.0	6.0	unscreened	-	3466_12:2760762-2760762 C>T_CSPSMGPSCSHPLLAVLTAPPVADG
4:69533906-69533906 C>T	0.0	3466	MELANOMA	-	-	ID=COSM734930;OCCURENCE=1(lung)	-	UGT2B15	uc021xow.1,p.G242E|ENST00000338206,p.G242E|NM_001076,p.G242E	protein_coding	uc021xow.1	nonsynonymous SNV	exon2	c.G725A	p.G242E	LKKWDQFYSEVLGRPTTLFETMGKA	LKKWDQFYSEVLERPTTLFETMGKA	1.0	5.0	unscreened	-	3466_4:69533906-69533906 C>T_LKKWDQFYSEVLERPTTLFETMGKA
11:117860303-117860303 C>T	0.0	3466	MELANOMA	-	-	-	-	IL10RA	uc010rxm.2,p.T92I|uc010rxl.2,p.T92I|ENST00000541785,p.T92I|NM_001558,p.T112I|ENST00000227752,p.T112I|uc031qel.1,p.T92I|uc001prv.3,p.T112I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qel.1	nonsynonymous SNV	exon3	c.C275T	p.T92I	VRAVDGSRHSNWTVTNTRFSVDEVT	VRAVDGSRHSNWIVTNTRFSVDEVT	8.0	5.0	unscreened	-	3466_11:117860303-117860303 C>T_VRAVDGSRHSNWIVTNTRFSVDEVT
5:42718183-42718183 C>T	0.0	3466	MELANOMA	-	-	-	-	GHR	NM_000163,p.P302L|uc011cpq.2,p.P115L|NM_001242400,p.P302L|ENST00000230882,p.P302L|uc021xxy.1,p.P302L|NM_001242405,p.P302L|NM_001242399,p.P309L|NM_001242401,p.P302L|uc003jmv.2,p.P302L|NM_001242403,p.P302L|uc021xxw.1,p.P302L|uc021xxv.1,p.P309L|uc021xxz.1,p.P302L|NM_001242406,p.P302L|uc021xxx.1,p.P302L|uc003jmu.3,p.P302L|NM_001242404,p.P302L|ENST00000537449,p.P115L|NM_001242402,p.P302L|uc021xya.1,p.P302L|NM_001242460,p.P280L|uc003jmt.3,p.P302L|uc021xyd.1,p.P280L|ENST00000357703,p.P280L	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xyd.1	nonsynonymous SNV	exon7	c.C839T	p.P280L	QQRIKMLILPPVPVPKIKGIDPDLL	QQRIKMLILPPVLVPKIKGIDPDLL	2.0	2.0	unscreened	-	3466_5:42718183-42718183 C>T_QQRIKMLILPPVLVPKIKGIDPDLL
8:67086725-67086725 C>T	0.0	3466	MELANOMA	-	-	-	-	TRIM55	NM_184085,p.P515L|ENST00000315962,p.P515L|uc003xvv.3,p.P515L	retained_intron, protein_coding	uc003xvv.3	nonsynonymous SNV	exon10	c.C1544T	p.P515L	PAATSQIGFEAPPLQGQAAAPASGS	PAATSQIGFEAPLLQGQAAAPASGS	1.0	9.0	unscreened	-	3466_8:67086725-67086725 C>T_PAATSQIGFEAPLLQGQAAAPASGS
X:57515280-57515280 G>A	0.0	3466	MELANOMA	-	-	-	-	FAAH2	uc004dvc.3,p.G505E|NM_174912,p.G505E|ENST00000374900,p.G505E	protein_coding, processed_transcript	uc004dvc.3	nonsynonymous SNV	exon11	c.G1514A	p.G505E	AKGLPLGIQVVAGPFNDHLTLAVAQ	AKGLPLGIQVVAEPFNDHLTLAVAQ	1.0	9.0	unscreened	-	3466_X:57515280-57515280 G>A_AKGLPLGIQVVAEPFNDHLTLAVAQ
9:136277440-136277440 G>A	1.0	3466	MELANOMA	-	-	-	-	REXO4	ENST00000453165,p.R282W|uc011mde.2,p.R160W|NM_001279351,p.R204W|uc004cdm.3,p.R297W|uc011mdf.2,p.R160W|ENST00000371942,p.R297W|NM_001279350,p.R160W|NM_020385,p.R297W|uc004cdn.3,p.R48W	protein_coding, processed_transcript	uc011mdf.2	nonsynonymous SNV	exon4	c.C478T	p.R160W	PVTDYRTAVSGIRPENLKQGEELEV	PVTDYRTAVSGIWPENLKQGEELEV	5.0	9.0	unscreened	-	3466_9:136277440-136277440 G>A_PVTDYRTAVSGIWPENLKQGEELEV
8:110416808-110416808 G>A	0.0	3466	MELANOMA	-	-	ID=COSM748804;OCCURENCE=1(lung)	-	PKHD1L1	NM_177531,p.E467K|ENST00000378402,p.E467K|uc003yne.3,p.E467K	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon15	c.G1399A	p.E467K	KGKEYYIEILLQEYRLSAFVDVGLY	KGKEYYIEILLQKYRLSAFVDVGLY	1.0	9.0	unscreened	-	3466_8:110416808-110416808 G>A_KGKEYYIEILLQKYRLSAFVDVGLY
19:17322949-17322949 C>T	1.0	3466	MELANOMA	-	-	-	-	MYO9B	NM_004145,p.R2102C|ENST00000594824,p.R2102C|uc010eak.3,p.R2102C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010eak.3	nonsynonymous SNV	exon40	c.C6304T	p.R2102C	AAAPVRRREPPARRPDQIHSVYITP	AAAPVRRREPPACRPDQIHSVYITP	10.0	8.0	-	-	3466_19:17322949-17322949 C>T_AAAPVRRREPPACRPDQIHSVYITP
12:78516204-78516204 G>A	1.0	3466	MELANOMA	-	-	-	-	NAV3	uc001syo.3,p.E1412K|ENST00000536525,p.E1412K|ENST00000397909,p.E1412K|ENST00000228327,p.E1412K|NM_001024383,p.E1412K|NM_014903,p.E1412K|uc001syp.3,p.E1412K	retained_intron, protein_coding, processed_transcript	uc001syp.3	nonsynonymous SNV	exon16	c.G4234A	p.E1412K	LMRTGSVRSTLSESMQLDRNTLPKK	LMRTGSVRSTLSKSMQLDRNTLPKK	7.0	9.0	unscreened	-	3466_12:78516204-78516204 G>A_LMRTGSVRSTLSKSMQLDRNTLPKK
2:182413485-182413485 G>A	0.0	3466	MELANOMA	-	-	-	-	CERKL	NM_001030311,p.A358V|ENST00000374969,p.A219V|NM_001160277,p.A314V|uc002uoa.3,p.A263V|NM_201548,p.A332V|uc002uob.3,p.A80V|uc002unx.3,p.A358V|NM_001030312,p.A219V|ENST00000339098,p.A358V|uc002uod.3,p.A127V|ENST00000374970,p.A263V|NM_001030313,p.A263V|uc021vtm.2,p.A127V|uc002unz.3,p.A80V|uc002uny.3,p.A332V|uc021vtl.1,p.A35V|ENST00000410087,p.A332V|uc010zfm.2,p.A314V|ENST00000409440,p.A314V|uc021vtk.1,p.A80V|uc002uoe.3,p.A332V|uc021vtj.1,p.A35V|uc021vth.1,p.A127V|uc021vti.1,p.A80V|uc002uoc.3,p.A219V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vtm.2	nonsynonymous SNV	exon8	c.C380T	p.A127V	FSAMFGFGGRTLALAEKYRWMSPNQ	FSAMFGFGGRTLVLAEKYRWMSPNQ	1.0	7.0	unscreened	-	3466_2:182413485-182413485 G>A_FSAMFGFGGRTLVLAEKYRWMSPNQ
8:1574931-1574931 G>A	0.0	3466	MELANOMA	-	-	-	-	DLGAP2	NM_001277161,p.D410N|NM_004745,p.D410N|uc003wpm.4,p.D410N|ENST00000421627,p.D410N|uc003wpl.4,p.D410N	retained_intron, protein_coding, processed_transcript	uc003wpm.4	nonsynonymous SNV	exon4	c.G1228A	p.D410N	EHQTQTYLQAASDVPVGHSLDPAAN	EHQTQTYLQAASNVPVGHSLDPAAN	1.0	9.0	unscreened	-	3466_8:1574931-1574931 G>A_EHQTQTYLQAASNVPVGHSLDPAAN
22:17072543-17072543 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1200212;OCCURENCE=1(large_intestine)	-	CCT8L2	NM_014406,p.D300N|ENST00000359963,p.D300N|uc002zlp.1,p.D300N	protein_coding	uc002zlp.1	nonsynonymous SNV	exon1	c.G898A	p.D300N	AGINVAVVLGEVDEETLTLADKYGI	AGINVAVVLGEVNEETLTLADKYGI	1.0	8.0	unscreened	-	3466_22:17072543-17072543 C>T_AGINVAVVLGEVNEETLTLADKYGI
1:40228242-40228242 T>G	1.0	3466	MELANOMA	-	-	-	-	PPIE	ENST00000372830,p.D297E|NM_001195007,p.D297E|uc001cdw.3,p.D297E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001cdw.3	nonsynonymous SNV	exon10	c.T891G	p.D297E	KASKARGSRKNKDGQERNWGKSQKV	KASKARGSRKNKEGQERNWGKSQKV	8.0	5.0	-	-	3466_1:40228242-40228242 T>G_KASKARGSRKNKEGQERNWGKSQKV
3:129150388-129150388 G>A	0.0	3466	MELANOMA	-	-	-	-	MBD4	NM_001276273,p.H249Y|uc003emk.2,p.H249Y|NM_001276270,p.H561Y|ENST00000429544,p.H561Y|uc003emh.2,p.H567Y|NM_003925,p.H567Y|ENST00000249910,p.H567Y|ENST00000393278,p.H249Y|uc003emj.2,p.H561Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003emk.2	nonsynonymous SNV	exon7	c.C745T	p.H249Y	QVHPEDHKLNKYHDWLWENHEKLSL	QVHPEDHKLNKYYDWLWENHEKLSL	8.0	6.0	-	-	3466_3:129150388-129150388 G>A_QVHPEDHKLNKYYDWLWENHEKLSL
14:24114039-24114039 C>T	1.0	3466	MELANOMA	-	-	-	-	DHRS2	NM_005794,p.H227Y|uc001wku.4,p.H227Y|ENST00000553600,p.H127Y|ENST00000250383,p.H227Y	retained_intron, protein_coding, processed_transcript	uc001wku.4	nonsynonymous SNV	exon8	c.C679T	p.H227Y	PGIIKTDFSKVFHGNESLWKNFKEH	PGIIKTDFSKVFYGNESLWKNFKEH	1.0	4.0	unscreened	-	3466_14:24114039-24114039 C>T_PGIIKTDFSKVFYGNESLWKNFKEH
X:135741266-135741266 C>G	0.0	3466	MELANOMA	-	-	-	-	CD40LG	uc010nsd.3,p.Q139E|ENST00000370628,p.Q139E|uc004faa.3,p.Q160E|NM_000074,p.Q160E|ENST00000370629,p.Q160E	protein_coding	uc010nsd.3	nonsynonymous SNV	exon4	c.C415G	p.Q139E	MSNNLVTLENGKQLTVKRQGLYYIY	MSNNLVTLENGKELTVKRQGLYYIY	1.0	9.0	unscreened	-	3466_X:135741266-135741266 C>G_MSNNLVTLENGKELTVKRQGLYYIY
21:15889271-15889271 G>A	0.0	3466	MELANOMA	-	-	-	-	SAMSN1	NM_022136,p.S74L|ENST00000400566,p.S74L|uc002yju.2,p.S74L|NM_001256370,p.S142L|uc002yjv.1,p.S142L|ENST00000285670,p.S142L	protein_coding, processed_transcript	uc002yjv.1	nonsynonymous SNV	exon4	c.C425T	p.S142L	NGGGLGKKMRAISWTMKKKVGKKYI	NGGGLGKKMRAILWTMKKKVGKKYI	5.0	8.0	unscreened	-	3466_21:15889271-15889271 G>A_NGGGLGKKMRAILWTMKKKVGKKYI
8:27320497-27320497 G>A	0.0	3466	MELANOMA	-	-	-	-	CHRNA2	ENST00000407991,p.S488L|NM_001282455,p.S473L|ENST00000520933,p.S488L|uc011lal.2,p.S473L|uc010lur.3,p.S488L|uc010lus.3,p.S290L|ENST00000240132,p.S473L|NM_000742,p.S488L	retained_intron, protein_coding, nonsense_mediated_decay	uc011lal.2	nonsynonymous SNV	exon6	c.C1418T	p.S473L	IADHLRSEDADSSVKEDWKYVAMVI	IADHLRSEDADSLVKEDWKYVAMVI	1.0	1.0	unscreened	-	3466_8:27320497-27320497 G>A_IADHLRSEDADSLVKEDWKYVAMVI
7:1131483-1131483 C>T	0.0	3466	MELANOMA	-	-	-	-	GPER1	NM_001098201,p.T40I|uc003sjz.1,p.T40I|NM_001039966,p.T40I|ENST00000401670,p.T40I|ENST00000397092,p.T40I|ENST00000413368,p.T40I|uc003skb.2,p.T40I|ENST00000397088,p.T40I|uc010ksd.1,p.T40I|ENST00000297469,p.T40I|uc003ska.1,p.T40I|NM_001505,p.T40I|uc021zyo.1,p.T40I	protein_coding	uc021zyo.1	nonsynonymous SNV	exon1	c.C119T	p.T40I	SPELNLSHPLLGTALANGTGELSEH	SPELNLSHPLLGIALANGTGELSEH	3.0	9.0	unscreened	-	3466_7:1131483-1131483 C>T_SPELNLSHPLLGIALANGTGELSEH
16:24366186-24366186 C>T	0.0	3466	MELANOMA	-	-	-	-	CACNG3	uc002dmf.3,p.L110F|NM_006539,p.L110F|ENST00000005284,p.L110F	protein_coding	uc002dmf.3	nonsynonymous SNV	exon3	c.C328T	p.L110F	LRAVRASSVFPILSVTLLFFGGLCV	LRAVRASSVFPIFSVTLLFFGGLCV	1.0	5.0	unscreened	-	3466_16:24366186-24366186 C>T_LRAVRASSVFPIFSVTLLFFGGLCV
1:204423912-204423912 C>T	0.0	3466	MELANOMA	-	-	-	-	PIK3C2B	ENST00000424712,p.D651N|uc010pqv.2,p.D651N|ENST00000367187,p.D651N|uc001hax.1,p.D651N|uc001haw.3,p.D651N|NM_002646,p.D651N	protein_coding, processed_transcript	uc010pqv.2	nonsynonymous SNV	exon13	c.G1951A	p.D651N	HRIPIIWATSYEDFYLSCSLSHGGK	HRIPIIWATSYENFYLSCSLSHGGK	4.0	8.0	unscreened	-	3466_1:204423912-204423912 C>T_HRIPIIWATSYENFYLSCSLSHGGK
6:47649491-47649491 C>T	0.0	3466	MELANOMA	-	-	-	-	GPR111	uc003oyy.3,p.S331F|ENST00000467205,p.S331F|ENST00000296862,p.S399F|ENST00000507065,p.S331F|ENST00000398742,p.S331F|NM_153839,p.S331F|uc010jzj.1,p.S399F	protein_coding, nonsense_mediated_decay	uc010jzj.1	nonsynonymous SNV	exon6	c.C1196T	p.S399F	SEERRTQCVGWHSVENRWDQQACKM	SEERRTQCVGWHFVENRWDQQACKM	1.0	9.0	unscreened	-	3466_6:47649491-47649491 C>T_SEERRTQCVGWHFVENRWDQQACKM
11:5475031-5475031 C>T	0.0	3466	MELANOMA	-	-	-	-	OR51I2	NM_001004754,p.H105Y|ENST00000341449,p.H105Y|uc010qzf.2,p.H105Y	protein_coding	uc010qzf.2	nonsynonymous SNV	exon1	c.C313T	p.H105Y	TFDACLIQMFLIHFFSMMESGILLA	TFDACLIQMFLIYFFSMMESGILLA	1.0	2.0	unscreened	-	3466_11:5475031-5475031 C>T_TFDACLIQMFLIYFFSMMESGILLA
11:56510485-56510485 C>T	0.0	3466	MELANOMA	-	-	-	-	OR9G4	NM_001005284,p.G268E|ENST00000302957,p.G268E|uc010rjo.2,p.G268E	protein_coding	uc010rjo.2	nonsynonymous SNV	exon1	c.G803A	p.G268E	CASHLISVMLFYGSLLFMYSRPSST	CASHLISVMLFYESLLFMYSRPSST	1.0	6.0	unscreened	-	3466_11:56510485-56510485 C>T_CASHLISVMLFYESLLFMYSRPSST
5:140719013-140719013 G>A	1.0	3466	MELANOMA	-	-	-	-	PCDHGA2	uc003ljk.2,p.D159N|NM_032009,p.D159N|ENST00000394576,p.D159N|uc011dao.2,p.D159N|NM_018915,p.D159N	retained_intron, protein_coding	uc011dao.2	nonsynonymous SNV	exon1	c.G475A	p.D159N	TPGFRIPLKNAHDADVGENALQKYA	TPGFRIPLKNAHNADVGENALQKYA	4.0	9.0	unscreened	-	3466_5:140719013-140719013 G>A_TPGFRIPLKNAHNADVGENALQKYA
11:6898650-6898650 C>T	0.0	3466	MELANOMA	-	-	-	-	OR10A4	NM_207186,p.L258F|ENST00000379829,p.L258F|uc010rat.2,p.L258F	protein_coding	uc010rat.2	nonsynonymous SNV	exon1	c.C772T	p.L258F	LLVVSLFYSTAILTYFRPQSSASSE	LLVVSLFYSTAIFTYFRPQSSASSE	1.0	8.0	unscreened	-	3466_11:6898650-6898650 C>T_LLVVSLFYSTAIFTYFRPQSSASSE
6:125379178-125379178 G>A	1.0	3466	MELANOMA	-	-	-	-	RNF217	NM_152553,p.D111N|ENST00000521654,p.D403N|uc003pzr.3,p.D168N|ENST00000359704,p.D111N|uc003pzs.3,p.D111N|ENST00000275184,p.D47N|NM_001286398,p.D403N|ENST00000560949,p.D168N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pzs.3	nonsynonymous SNV	exon5	c.G331A	p.D111N	HEGVNCKEYKKGDKLLRHWASEIEH	HEGVNCKEYKKGNKLLRHWASEIEH	8.0	9.0	-	-	3466_6:125379178-125379178 G>A_HEGVNCKEYKKGNKLLRHWASEIEH
1:173020072-173020072 C>T	0.0	3466	MELANOMA	-	-	-	-	TNFSF18	uc001giu.2,p.E11K|NM_005092,p.E11K|ENST00000404377,p.E11K	protein_coding	uc001giu.2	nonsynonymous SNV	exon1	c.G31A	p.E11K	MTLHPSPITCEFLFSTALISPKM	MTLHPSPITCKFLFSTALISPKM	1.0	2.0	unscreened	-	3466_1:173020072-173020072 C>T_MTLHPSPITCKFLFSTALISPKM
7:117397982-117397982 G>A	0.0	3466	MELANOMA	-	-	-	-	CTTNBP2	NM_033427,p.P1072L|ENST00000160373,p.P1072L|uc003vjf.3,p.P1072L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vjf.3	nonsynonymous SNV	exon11	c.C3215T	p.P1072L	VPWSVGQSFAQSPWDFMRKNKAEHI	VPWSVGQSFAQSLWDFMRKNKAEHI	2.0	1.0	unscreened	-	3466_7:117397982-117397982 G>A_VPWSVGQSFAQSLWDFMRKNKAEHI
1:92647516-92647516 C>T	0.0	3466	MELANOMA	-	-	-	-	KIAA1107	ENST00000370378,p.R988C|ENST00000409154,p.R1043C|uc010otd.2,p.R988C|NM_015237,p.R988C|uc001dop.3,p.R913C	protein_coding	uc010otd.2	nonsynonymous SNV	exon8	c.C2962T	p.R988C	NLAFEDATENECREFSANKKFKRSV	NLAFEDATENECCEFSANKKFKRSV	2.0	7.0	unscreened	Snp within 36 nucleotides, 1:92647532-92647532 C>A, residue 18 T>N PR	3466_1:92647516-92647516 C>T_NLAFEDATENECCEFSANKKFKRSV
12:21242879-21242879 C>T	0.0	3466	MELANOMA	-	-	-	-	SLCO1B7	NM_001009562,p.P588S|uc010sil.2,p.P696S|uc010sin.2,p.P588S|ENST00000554957,p.P635S|ENST00000540229,p.P696S|uc010sim.2,p.P635S|ENST00000553473,p.P696S|ENST00000381541,p.P635S|ENST00000421593,p.P588S	 nonsense_mediated_decay, processed_transcript,protein_coding	uc010sin.2	nonsynonymous SNV	exon13	c.C1762T	p.P588S	RAFFGLKVALIFPVLVLLTVFIFVV	RAFFGLKVALIFSVLVLLTVFIFVV	1.0	4.0	unscreened	-	3466_12:21242879-21242879 C>T_RAFFGLKVALIFSVLVLLTVFIFVV
1:158261127-158261127 C>T	0.0	3466	MELANOMA	-	-	ID=COSM107502;OCCURENCE=1(skin)	-	CD1C	ENST00000368170,p.R89C|uc001fru.3,p.R89C|NM_001765,p.R89C	protein_coding	uc001fru.3	nonsynonymous SNV	exon2	c.C265T	p.R89C	SNEELSDLELLFRFYLFGLTREIQD	SNEELSDLELLFCFYLFGLTREIQD	2.0	2.0	unscreened	-	3466_1:158261127-158261127 C>T_SNEELSDLELLFCFYLFGLTREIQD
11:3239337-3239337 G>A	0.0	3466	MELANOMA	-	-	-	-	MRGPRG	ENST00000332314,p.T236M|uc001lxp.2,p.T236M|NM_001164377,p.T236M	protein_coding	uc001lxp.2	nonsynonymous SNV	exon1	c.C707T	p.T236M	LNFLLPVFSPLATLLACVNSSSKPL	LNFLLPVFSPLAMLLACVNSSSKPL	1.0	6.0	unscreened	-	3466_11:3239337-3239337 G>A_LNFLLPVFSPLAMLLACVNSSSKPL
11:59132584-59132584 C>T	0.0	3466	MELANOMA	-	-	-	-	OR5AN1	uc010rks.2,p.S218F|ENST00000313940,p.S218F|NM_001004729,p.S218F	protein_coding	uc010rks.2	nonsynonymous SNV	exon1	c.C653T	p.S218F	FFGIASALVIMISYGYIGISIMKIT	FFGIASALVIMIFYGYIGISIMKIT	1.0	5.0	unscreened	-	3466_11:59132584-59132584 C>T_FFGIASALVIMIFYGYIGISIMKIT
11:43964473-43964473 G>A	0.0	3466	MELANOMA	-	-	-	-	C11orf96	ENST00000339446,p.E320K	protein_coding	ENST00000339446	nonsynonymous SNV	exon4	c.G958A	p.E320K	ADAGGAMAAKPGELMGICSSYQAVM	ADAGGAMAAKPGKLMGICSSYQAVM	5.0	1.0	unscreened	-	3466_11:43964473-43964473 G>A_ADAGGAMAAKPGKLMGICSSYQAVM
9:107361157-107361157 C>T	0.0	3466	MELANOMA	-	-	-	-	OR13C5	NM_001004482,p.E180K|uc011lvp.2,p.E180K|ENST00000374779,p.E180K	protein_coding	uc011lvp.2	nonsynonymous SNV	exon1	c.G538A	p.E180K	FCRNNIINHFTCEILAVMKLACADI	FCRNNIINHFTCKILAVMKLACADI	1.0	9.0	unscreened	-	3466_9:107361157-107361157 C>T_FCRNNIINHFTCKILAVMKLACADI
3:183954177-183954177 C>T	0.0	3466	MELANOMA	-	-	-	-	VWA5B2	ENST00000273794,p.P201L|ENST00000426955,p.P420L|uc011brb.2,p.P201L|NM_138345,p.P420L|uc003fnd.3,p.P140L|uc011bra.2,p.P420L	retained_intron, protein_coding	uc011brb.2	nonsynonymous SNV	exon7	c.C602T	p.P201L	QLICESIETLQVPSGPPDVLAALDW	QLICESIETLQVLSGPPDVLAALDW	1.0	4.0	unscreened	-	3466_3:183954177-183954177 C>T_QLICESIETLQVLSGPPDVLAALDW
10:96796934-96796934 C>T	0.0	3466	MELANOMA	-	-	-	2	CYP2C8	uc010qoa.2,p.G405E|uc021pwl.1,p.G405E|uc010qob.2,p.G389E|NM_001198853,p.G405E|ENST00000371270,p.G475E|ENST00000535898,p.G373E|NM_000770,p.G475E|uc001kkb.3,p.G475E|uc010qoc.2,p.G373E|NM_001198855,p.G405E|NM_001198854,p.G373E	retained_intron, protein_coding, nonsense_mediated_decay	uc021pwl.1	nonsynonymous SNV	exon10	c.G1214A	p.G405E	DLKNLNTTAVTKGIVSLPPSYQICF	DLKNLNTTAVTKEIVSLPPSYQICF	1.0	5.0	unscreened	-	3466_10:96796934-96796934 C>T_DLKNLNTTAVTKEIVSLPPSYQICF
11:58478210-58478210 G>C	0.0	3466	MELANOMA	-	-	-	-	GLYAT	uc001nnc.3,p.A114G|NM_005838,p.A114G|uc001nnb.3,p.A114G|ENST00000344743,p.A114G|ENST00000278400,p.A114G|NM_201648,p.A114G|ENST00000529732,p.A114G	retained_intron, protein_coding	uc001nnc.3	nonsynonymous SNV	exon5	c.C341G	p.A114G	LQIQSSQPSLNEAIQNLAAIKSFKV	LQIQSSQPSLNEGIQNLAAIKSFKV	1.0	4.0	unscreened	-	3466_11:58478210-58478210 G>C_LQIQSSQPSLNEGIQNLAAIKSFKV
16:24372769-24372769 C>A	0.0	3466	MELANOMA	-	-	-	-	CACNG3	uc002dmf.3,p.S178Y|ENST00000005284,p.S178Y|NM_006539,p.S178Y	protein_coding	uc002dmf.3	nonsynonymous SNV	exon4	c.C533A	p.S178Y	QRDSKKSYSYGWSFYFGAFSFIIAE	QRDSKKSYSYGWYFYFGAFSFIIAE	1.0	5.0	unscreened	-	3466_16:24372769-24372769 C>A_QRDSKKSYSYGWYFYFGAFSFIIAE
8:88363940-88363940 C>T	0.0	3466	MELANOMA	-	-	-	2	CNBD1	ENST00000518476,p.S357F|uc003ydy.2,p.S357F|NM_173538,p.S357F	retained_intron, protein_coding, processed_transcript	uc003ydy.2	nonsynonymous SNV	exon9	c.C1070T	p.S357F	PGHVIVESGNIISFVGYINSGCCNI	PGHVIVESGNIIFFVGYINSGCCNI	1.0	2.0	unscreened	-	3466_8:88363940-88363940 C>T_PGHVIVESGNIIFFVGYINSGCCNI
10:70644643-70644643 G>A	0.0	3466	MELANOMA	-	-	-	-	STOX1	ENST00000399169,p.R364Q|uc021prw.1,p.R254Q|NM_152709,p.R364Q|uc001joq.3,p.R254Q|NM_001130161,p.R364Q|ENST00000298596,p.R364Q|uc001jos.2,p.R364Q|ENST00000421961,p.R254Q	protein_coding	uc021prw.1	nonsynonymous SNV	exon3	c.G761A	p.R254Q	NIPRDVEHEIIKRINPILTVDNLIK	NIPRDVEHEIIKQINPILTVDNLIK	2.0	4.0	unscreened	-	3466_10:70644643-70644643 G>A_NIPRDVEHEIIKQINPILTVDNLIK
5:111595639-111595639 G>A	0.0	3466	MELANOMA	-	-	-	-	EPB41L4A	NM_022140,p.P227L|uc003kpv.1,p.P227L|ENST00000261486,p.P227L	retained_intron, protein_coding, processed_transcript	uc003kpv.1	nonsynonymous SNV	exon8	c.C680T	p.P227L	GENKSEYFLGLTPVGVVVYKNKKQV	GENKSEYFLGLTLVGVVVYKNKKQV	4.0	9.0	unscreened	-	3466_5:111595639-111595639 G>A_GENKSEYFLGLTLVGVVVYKNKKQV
1:17555264-17555264 C>T	0.0	3466	MELANOMA	-	-	-	-	PADI1	uc001bah.1,p.S266F|ENST00000375471,p.S266F|NM_013358,p.S266F	protein_coding, processed_transcript	uc001bah.1	nonsynonymous SNV	exon7	c.C797T	p.S266F	LTFPDADFLGLVSLSVSLVDPGTLP	LTFPDADFLGLVFLSVSLVDPGTLP	1.0	2.0	unscreened	-	3466_1:17555264-17555264 C>T_LTFPDADFLGLVFLSVSLVDPGTLP
6:136597122-136597122 G>A	0.0	3466	MELANOMA	-	-	-	2	BCLAF1	ENST00000530767,p.P341L|uc003qgw.1,p.P341L|NM_001077441,p.P341L|ENST00000534269,p.P339L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003qgw.1	nonsynonymous SNV	exon5	c.C1022T	p.P341L	ETAKTGKFLKSPPLHKNLDAREKST	ETAKTGKFLKSPLLHKNLDAREKST	10.0	1.0	unscreened	-	3466_6:136597122-136597122 G>A_ETAKTGKFLKSPLLHKNLDAREKST
2:196756519-196756519 C>T	0.0	3466	MELANOMA	-	-	-	-	DNAH7	NM_018897,p.E1636K|ENST00000312428,p.E1636K|uc002utj.4,p.E1636K	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon31	c.G4906A	p.E1636K	GALNDICEKGLMEENKVQITVLNPK	GALNDICEKGLMKENKVQITVLNPK	1.0	2.0	unscreened	-	3466_2:196756519-196756519 C>T_GALNDICEKGLMKENKVQITVLNPK
3:122632121-122632121 C>T	0.0	3466	MELANOMA	-	-	-	-	SEMA5B	uc031sbm.1,p.G865S|ENST00000195173,p.G810S|uc003egb.2,p.G811S|ENST00000393583,p.G811S|NM_001256348,p.G753S|uc010hro.2,p.G753S|NM_001256346,p.G811S|ENST00000451055,p.G865S|ENST00000357599,p.G811S|NM_001256347,p.G865S|uc011bju.2,p.G753S|NM_001031702,p.G811S|ENST00000475244,p.G811S|uc003efz.2,p.G811S	protein_coding, processed_transcript, nonsense_mediated_decay	uc031sbm.1	nonsynonymous SNV	exon17	c.G2593A	p.G865S	RFTCRAPLADPHGLQFGRRRTETRT	RFTCRAPLADPHSLQFGRRRTETRT	3.0	5.0	unscreened	-	3466_3:122632121-122632121 C>T_RFTCRAPLADPHSLQFGRRRTETRT
4:155457881-155457881 G>A	1.0	3466	MELANOMA	-	-	-	-	PLRG1	ENST00000503251,p.S79F	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000503251	nonsynonymous SNV	exon3	c.C236T	p.S79F	DGVLVSGDRRNSSSQLETRNYQEKE	DGVLVSGDRRNSFSQLETRNYQEKE	8.0	5.0	unscreened	-	3466_4:155457881-155457881 G>A_DGVLVSGDRRNSFSQLETRNYQEKE
5:137275829-137275829 G>A	1.0	3466	MELANOMA	0.0005	-	-	-	PKD2L2	ENST00000290431,p.R612Q|uc003lbw.1,p.R612Q|NM_014386,p.R612Q	protein_coding, nonsense_mediated_decay	uc003lbw.1	nonsynonymous SNV	exon14	c.G1835A	p.R612Q	KYKMRFSECLTKRI	KYKMRFSECLTKQI	2.0	9.0	unscreened	-	3466_5:137275829-137275829 G>A_KYKMRFSECLTKQI
10:48390142-48390142 G>A	0.0	3466	MELANOMA	-	-	-	-	RBP3	uc001jez.3,p.L246F|NM_002900,p.L246F|ENST00000224600,p.L246F	protein_coding	uc001jez.3	nonsynonymous SNV	exon1	c.C736T	p.L246F	QTRGVAEDIAHILKQMRRAIVVGER	QTRGVAEDIAHIFKQMRRAIVVGER	1.0	7.0	unscreened	-	3466_10:48390142-48390142 G>A_QTRGVAEDIAHIFKQMRRAIVVGER
6:52993717-52993717 C>T	0.0	3466	MELANOMA	-	-	-	-	GCM1	ENST00000259803,p.G200R|uc003pbp.3,p.G200R|NM_003643,p.G200R	protein_coding	uc003pbp.3	nonsynonymous SNV	exon6	c.G598A	p.G200R	ETRSLPGETQSQGSLPLTWSFQEGV	ETRSLPGETQSQRSLPLTWSFQEGV	1.0	1.0	unscreened	-	3466_6:52993717-52993717 C>T_ETRSLPGETQSQRSLPLTWSFQEGV
2:206166563-206166563 C>T	0.0	3466	MELANOMA	-	-	-	-	PARD3B	uc010fub.2,p.R914C|ENST00000462231,p.R914C	protein_coding, processed_transcript, nonsense_mediated_decay	uc010fub.2	nonsynonymous SNV	exon19	c.C2740T	p.R914C	LQPNAYGSQFCARSLSAEAEELFGE	LQPNAYGSQFCACSLSAEAEELFGE	5.0	2.0	unscreened	-	3466_2:206166563-206166563 C>T_LQPNAYGSQFCACSLSAEAEELFGE
6:44274758-44274758 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1079772;OCCURENCE=1(skin),1(endometrium)	-	AARS2	ENST00000244571,p.R351C	 processed_transcript,protein_coding	ENST00000244571	nonsynonymous SNV	exon7	c.C1051T	p.R351C	IFPGMSGPPLVLRRILRRAVRFSME	IFPGMSGPPLVLCRILRRAVRFSME	5.0	1.0	unscreened	-	3466_6:44274758-44274758 G>A_IFPGMSGPPLVLCRILRRAVRFSME
6:44274758-44274758 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1079772;OCCURENCE=1(skin),1(endometrium)	-	AARS2	NM_020745,p.R351C|uc010jza.1,p.R351C	 processed_transcript,protein_coding	uc010jza.1	nonsynonymous SNV	exon7	c.C1051T	p.R351C	VFPGMSGPPLVLRRILRRAVRFSME	VFPGMSGPPLVLCRILRRAVRFSME	5.0	1.0	unscreened	-	3466_6:44274758-44274758 G>A_VFPGMSGPPLVLCRILRRAVRFSME
6:29141978-29141978 C>T	0.0	3466	MELANOMA	-	-	-	-	OR2J2	NM_030905,p.S189L|ENST00000377167,p.S189L|uc011dlm.2,p.S189L	protein_coding	uc011dlm.2	nonsynonymous SNV	exon1	c.C566T	p.S189L	HFFCEVPALLRLSCVDTHANELTLM	HFFCEVPALLRLLCVDTHANELTLM	1.0	1.0	unscreened	-	3466_6:29141978-29141978 C>T_HFFCEVPALLRLLCVDTHANELTLM
5:35965751-35965751 G>A	0.0	3466	MELANOMA	-	-	-	-	UGT3A1	uc003jjy.2,p.H140Y|NM_001171873,p.H140Y|ENST00000507113,p.H160Y|ENST00000333811,p.H140Y|uc003jjv.2,p.H194Y|ENST00000274278,p.H194Y|uc011coq.2,p.H194Y|uc011cor.2,p.H160Y|ENST00000503189,p.H194Y|NM_152404,p.H194Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cor.2	nonsynonymous SNV	exon3	c.C478T	p.H160Y	SYVPVFPSLLTDHMDFWGRVKNFLM	SYVPVFPSLLTDYMDFWGRVKNFLM	1.0	2.0	unscreened	-	3466_5:35965751-35965751 G>A_SYVPVFPSLLTDYMDFWGRVKNFLM
3:108788579-108788579 C>T	0.0	3466	MELANOMA	-	-	-	-	MORC1	uc003dxl.3,p.A239T|ENST00000232603,p.A239T|uc011bhn.2,p.A239T|NM_014429,p.A239T|ENST00000483760,p.A239T	protein_coding	uc011bhn.2	nonsynonymous SNV	exon9	c.G715A	p.A239T	ALEDFPARWSFRAYTSVLYFNPWMR	ALEDFPARWSFRTYTSVLYFNPWMR	1.0	4.0	unscreened	-	3466_3:108788579-108788579 C>T_ALEDFPARWSFRTYTSVLYFNPWMR
11:124440091-124440091 C>T	0.0	3466	MELANOMA	-	-	-	-	OR8A1	uc010san.2,p.P43S|ENST00000284287,p.P43S|NM_001005194,p.P43S	protein_coding	uc010san.2	nonsynonymous SNV	exon1	c.C127T	p.P43S	LKGLTKRADLQLPLFLLFLGIYLVT	LKGLTKRADLQLSLFLLFLGIYLVT	1.0	5.0	unscreened	-	3466_11:124440091-124440091 C>T_LKGLTKRADLQLSLFLLFLGIYLVT
19:44988634-44988634 G>A	1.0	3466	MELANOMA	-	-	-	-	ZNF180	ENST00000586637,p.S58F	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000586637	nonsynonymous SNV	exon4	c.C173T	p.S58F	ASQVAGTTGFFPSSRDYHQSRGRRH	ASQVAGTTGFFPFSRDYHQSRGRRH	6.0	8.0	unscreened	-	3466_19:44988634-44988634 G>A_ASQVAGTTGFFPFSRDYHQSRGRRH
20:62174741-62174741 C>T	0.0	3466	MELANOMA	-	-	-	-	SRMS	NM_080823,p.E191K|ENST00000217188,p.E191K|uc002yfi.1,p.E191K	protein_coding	uc002yfi.1	nonsynonymous SNV	exon3	c.G571A	p.E191K	LYLQKGRLFPGLEELLTYYKANWKL	LYLQKGRLFPGLKELLTYYKANWKL	1.0	5.0	unscreened	-	3466_20:62174741-62174741 C>T_LYLQKGRLFPGLKELLTYYKANWKL
2:168105701-168105701 G>A	0.0	3466	MELANOMA	0.0009	-	-	-	XIRP2	uc002udx.3,p.G2600E|ENST00000409273,p.G2378E|uc002udy.3,p.G2425E|NM_152381,p.G2600E|ENST00000409195,p.G2600E|NM_001199144,p.G2378E|uc010fpq.3,p.G2378E|ENST00000295237,p.G2600E	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.G7133A	p.G2378E	PLQKTNEEVSLSGIDSECTVVQPSP	PLQKTNEEVSLSEIDSECTVVQPSP	3.0	7.0	unscreened	-	3466_2:168105701-168105701 G>A_PLQKTNEEVSLSEIDSECTVVQPSP
X:36379468-36379468 G>A	0.0	3466	MELANOMA	-	-	-	-	CXorf30	NM_001098843,p.E405K|ENST00000378657,p.E405K|uc011mkc.3,p.E405K|ENST00000378653,p.E690K	protein_coding	uc011mkc.3	nonsynonymous SNV	exon16	c.G1213A	p.E405K	EDPNEIPKIHEFEYEIQFESEAMKS	EDPNEIPKIHEFKYEIQFESEAMKS	1.0	9.0	unscreened	-	3466_X:36379468-36379468 G>A_EDPNEIPKIHEFKYEIQFESEAMKS
1:171168578-171168578 G>A	0.0	3466	MELANOMA	-	-	-	-	FMO2	ENST00000209929,p.G193E|uc001ghk.1,p.G193E|ENST00000441535,p.G193E	retained_intron, protein_coding, processed_transcript	uc001ghk.1	nonsynonymous SNV	exon5	c.G578A	p.G193E	GFEGKRILVIGMGNLGSDIAVELSK	GFEGKRILVIGMENLGSDIAVELSK	3.0	1.0	unscreened	Snps within 36 nucleotides, 1:171168584-171168584 C>T, 1:171168585-171168585 A>G, residue 15 S>L PR	3466_1:171168578-171168578 G>A_GFEGKRILVIGMENLGSDIAVELSK
3:183752991-183752991 C>T	0.0	3466	MELANOMA	-	-	-	-	HTR3D	ENST00000428798,p.S31L|NM_001145143,p.S31L|uc011bqu.2,p.S31L	protein_coding	uc011bqu.2	nonsynonymous SNV	exon2	c.C92T	p.S31L	LLLQDSHLQLVTSFLWLNMWNPDEC	LLLQDSHLQLVTLFLWLNMWNPDEC	1.0	7.0	unscreened	-	3466_3:183752991-183752991 C>T_LLLQDSHLQLVTLFLWLNMWNPDEC
11:82938800-82938800 C>T	0.0	3466	MELANOMA	-	-	-	-	ANKRD42	ENST00000260047,p.P266S|NM_182603,p.P239S|ENST00000533342,p.P267S|uc001pab.1,p.P266S|uc001ozz.1,p.P239S|NM_001300972,p.P267S|NM_001300973,p.P266S|uc010rsv.1,p.P267S|uc001paa.3,p.P267S|ENST00000393392,p.P239S|NM_001300975,p.P267S|ENST00000531895,p.P267S	protein_coding, processed_transcript	uc010rsv.1	nonsynonymous SNV	exon7	c.C799T	p.P267S	GKDLEDQETLAFPGHVAAFKGDLGM	GKDLEDQETLAFSGHVAAFKGDLGM	5.0	3.0	unscreened	-	3466_11:82938800-82938800 C>T_GKDLEDQETLAFSGHVAAFKGDLGM
20:31196443-31196443 C>T	0.0	3466	MELANOMA	-	-	-	-	LOC149950	ENST00000375670,p.S121F|uc002wxy.3,p.S121F|ENST00000375671,p.S121F	protein_coding	uc002wxy.3	nonsynonymous SNV	exon3	c.C362T	p.S121F	STDPQTLPLSFRSLLRCHQLCAASL	STDPQTLPLSFRFLLRCHQLCAASL	1.0	6.0	unscreened	-	3466_20:31196443-31196443 C>T_STDPQTLPLSFRFLLRCHQLCAASL
9:114840971-114840971 C>T	1.0	3466	MELANOMA	-	-	-	-	SUSD1	uc010mui.3,p.E534K|NM_001282640,p.E534K|uc010muj.3,p.E534K|ENST00000374270,p.E534K|ENST00000374263,p.E534K|NM_001282643,p.E534K|uc004bfu.3,p.E534K|ENST00000374264,p.E534K|NM_022486,p.E534K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010muj.3	nonsynonymous SNV	exon12	c.G1600A	p.E534K	LFHIWGQRWYQKEFAQEMTFNISSS	LFHIWGQRWYQKKFAQEMTFNISSS	4.0	9.0	-	-	3466_9:114840971-114840971 C>T_LFHIWGQRWYQKKFAQEMTFNISSS
3:113218369-113218369 C>T	1.0	3466	MELANOMA	-	-	-	-	SPICE1	uc011bie.1,p.E82K|uc003eag.4,p.E70K|uc003eai.1,p.E70K|ENST00000495812,p.E70K|NM_144718,p.E70K|ENST00000480527,p.E70K|ENST00000295872,p.E70K	retained_intron, protein_coding	uc011bie.1	nonsynonymous SNV	exon4	c.G244A	p.E82K	SKNRALVHWELQEKALKRKWRKQKP	SKNRALVHWELQKKALKRKWRKQKP	6.0	5.0	unscreened	-	3466_3:113218369-113218369 C>T_SKNRALVHWELQKKALKRKWRKQKP
10:11504711-11504711 A>G	1.0	3466	MELANOMA	-	-	-	-	USP6NL	uc001iks.1,p.V756A|uc001ikt.3,p.V739A|NM_014688,p.V739A|ENST00000277575,p.V756A|NM_001080491,p.V756A|ENST00000379237,p.V739A	protein_coding	uc001ikt.3	nonsynonymous SNV	exon15	c.T2216C	p.V739A	VDYLPDNRTWSEVSYTYRPETQGQS	VDYLPDNRTWSEASYTYRPETQGQS	8.0	7.0	-	-	3466_10:11504711-11504711 A>G_VDYLPDNRTWSEASYTYRPETQGQS
7:143039090-143039090 G>A	0.0	3466	MELANOMA	-	-	-	-	CLCN1	ENST00000343257,p.G551S|uc003wcr.1,p.G551S|NM_000083,p.G551S|uc011ktc.1,p.G163S	protein_coding, processed_transcript, nonsense_mediated_decay	uc011ktc.1	nonsynonymous SNV	exon14	c.G487A	p.G163S	TVSTAVICFELTGQIAHILPMMVAV	TVSTAVICFELTSQIAHILPMMVAV	1.0	1.0	unscreened	-	3466_7:143039090-143039090 G>A_TVSTAVICFELTSQIAHILPMMVAV
10:7627872-7627872 G>A	0.0	3466	MELANOMA	-	-	-	-	ITIH5	ENST00000298441,p.P153L|NM_032817,p.P153L|uc001ijr.2,p.P367L|NM_030569,p.P367L|ENST00000256861,p.P367L|ENST00000397145,p.P367L|uc021pmv.1,p.P367L|ENST00000446830,p.P149L|NM_001001851,p.P367L|ENST00000397146,p.P367L|uc021pmu.1,p.P153L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pmv.1	nonsynonymous SNV	exon8	c.C1100T	p.P367L	IRDGKVYIHHMSPTGGTDINGALQR	IRDGKVYIHHMSLTGGTDINGALQR	2.0	2.0	unscreened	-	3466_10:7627872-7627872 G>A_IRDGKVYIHHMSLTGGTDINGALQR
7:150269995-150269995 G>A	0.0	3466	MELANOMA	-	-	-	-	GIMAP4	uc011kuv.2,p.M293I|NM_018326,p.M279I|uc003whl.3,p.M279I|ENST00000255945,p.M279I|ENST00000461940,p.M293I|uc011kuu.2,p.M140I	protein_coding, processed_transcript	uc011kuv.2	nonsynonymous SNV	exon3	c.G879A	p.M293I	EDKVEQEKRKKQMEKKLAEQEAHYA	EDKVEQEKRKKQIEKKLAEQEAHYA	9.0	9.0	unscreened	-	3466_7:150269995-150269995 G>A_EDKVEQEKRKKQIEKKLAEQEAHYA
21:15872983-15872983 C>T	0.0	3466	MELANOMA	-	-	-	-	SAMSN1	uc002yju.2,p.G212E|ENST00000285670,p.G280E|NM_001256370,p.G280E|ENST00000400564,p.G44E|uc002yjv.1,p.G280E|NM_022136,p.G212E|uc010gky.2,p.G44E|NM_001286523,p.G143E|ENST00000400566,p.G212E	protein_coding, processed_transcript	uc010gky.2	nonsynonymous SNV	exon2	c.G131A	p.G44E	MGMWTGMLNNKVGNFKFIYVDVISE	MGMWTGMLNNKVENFKFIYVDVISE	5.0	6.0	unscreened	-	3466_21:15872983-15872983 C>T_MGMWTGMLNNKVENFKFIYVDVISE
4:70460927-70460927 C>T	0.0	3466	MELANOMA	-	-	-	-	UGT2A1,UGT2A2	NM_001301239,p.G302E|NM_001301233,p.G311E|NM_001105677,p.G355E|ENST00000512704,p.G302E|ENST00000286604,p.G346E|uc021xox.1,p.G311E|uc010ihu.3,p.G346E|uc011caq.2,p.G512E|uc003hem.4,p.G346E|ENST00000503640,p.G346E|ENST00000457664,p.G355E|uc010iht.3,p.G302E|NM_006798,p.G346E|NM_001252274,p.G512E|ENST00000514019,p.G512E|NM_001252275,p.G346E|uc010ihs.3,p.G355E	 processed_transcript,retained_intron, protein_coding	uc021xox.1	nonsynonymous SNV	exon3	c.G932A	p.G311E	LWRYKGKKPATLGNNTQLFDWIPQN	LWRYKGKKPATLENNTQLFDWIPQN	1.0	4.0	unscreened	-	3466_4:70460927-70460927 C>T_LWRYKGKKPATLENNTQLFDWIPQN
12:130884267-130884267 G>A	0.0	3466	MELANOMA	-	-	-	-	RIMBP2	ENST00000261655,p.S1030F|uc001uil.2,p.S1030F|NM_015347,p.S1030F	retained_intron, protein_coding, nonsense_mediated_decay	uc001uil.2	nonsynonymous SNV	exon18	c.C3089T	p.S1030F	PDDVEVYLSDAPSHYSQDTPMRSKA	PDDVEVYLSDAPFHYSQDTPMRSKA	1.0	9.0	unscreened	-	3466_12:130884267-130884267 G>A_PDDVEVYLSDAPFHYSQDTPMRSKA
15:48063299-48063299 C>T	1.0	3466	MELANOMA	-	-	-	-	SEMA6D	ENST00000389428,p.H772Y|uc010bek.3,p.H847Y|ENST00000558014,p.H785Y|ENST00000537942,p.H785Y|ENST00000358066,p.H785Y|ENST00000316364,p.H847Y|NM_153618,p.H847Y|NM_001198999,p.H785Y|uc001zwc.3,p.H772Y|ENST00000354744,p.H791Y|uc001zwb.3,p.H785Y|ENST00000389433,p.H828Y|NM_153616,p.H772Y|ENST00000536845,p.H847Y|NM_153617,p.H791Y|NM_020858,p.H785Y|uc001zvy.3,p.H847Y|ENST00000389432,p.H804Y|uc001zvw.3,p.H785Y|uc001zvz.3,p.H791Y	retained_intron, protein_coding	uc010bek.3	nonsynonymous SNV	exon19	c.C2539T	p.H847Y	HDYNTSFSNSNAHKAEKKLQNIDHP	HDYNTSFSNSNAYKAEKKLQNIDHP	4.0	7.0	unscreened	-	3466_15:48063299-48063299 C>T_HDYNTSFSNSNAYKAEKKLQNIDHP
10:43692445-43692445 C>T	1.0	3466	MELANOMA	-	-	-	-	RASGEF1A	ENST00000395810,p.A443T|uc001jap.1,p.A443T|NM_001282862,p.A451T|ENST00000374459,p.A451T|ENST00000395809,p.A443T|uc001jao.1,p.A451T|NM_145313,p.A443T	protein_coding, processed_transcript	uc001jap.1	nonsynonymous SNV	exon11	c.G1327A	p.A443T	EKDKKIQSYLLTAPIYSEEALFVAS	EKDKKIQSYLLTTPIYSEEALFVAS	4.0	4.0	unscreened	-	3466_10:43692445-43692445 C>T_EKDKKIQSYLLTTPIYSEEALFVAS
1:34033384-34033384 G>A	0.0	3466	MELANOMA	-	-	-	-	CSMD2	NM_001281956,p.S2730F|uc001bxm.1,p.S2730F|ENST00000373381,p.S2730F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxm.1	nonsynonymous SNV	exon53	c.C8189T	p.S2730F	SIFYKLLFDVLSSPSLTKAGHCGTP	SIFYKLLFDVLSFPSLTKAGHCGTP	1.0	2.0	unscreened	-	3466_1:34033384-34033384 G>A_SIFYKLLFDVLSFPSLTKAGHCGTP
11:1155566-1155566 G>C	0.0	3466	MELANOMA	-	-	-	-	MUC2,MUC5B	uc021qbr.1,p.G85A|ENST00000534821,p.G85A|ENST00000356191,p.G85A	protein_coding, processed_transcript	uc021qbr.1	nonsynonymous SNV	exon4	c.G254C	p.G85A	NPAHNGRVCSTWGSFHYKTFDGDVF	NPAHNGRVCSTWASFHYKTFDGDVF	1.0	1.0	unscreened	-	3466_11:1155566-1155566 G>C_NPAHNGRVCSTWASFHYKTFDGDVF
7:141464297-141464297 T>A	0.0	3466	MELANOMA	-	-	-	-	TAS2R3	NM_016943,p.S113R|uc003vwp.1,p.S113R|ENST00000247879,p.S113R	protein_coding	uc003vwp.1	nonsynonymous SNV	exon1	c.T339A	p.S113R	TCLGVLYCLKIASFSHPTFLWLKWR	TCLGVLYCLKIARFSHPTFLWLKWR	2.0	1.0	unscreened	-	3466_7:141464297-141464297 T>A_TCLGVLYCLKIARFSHPTFLWLKWR
9:80863242-80863242 C>T	1.0	3466	MELANOMA	-	-	-	-	CEP78	uc004aky.4,p.L310F|NM_032171,p.L310F|ENST00000376598,p.L310F|ENST00000277082,p.L310F|uc011lsp.1,p.L223F|uc010mpp.3,p.L310F|ENST00000424347,p.L310F|ENST00000376597,p.L310F|uc004akx.2,p.L310F|ENST00000415759,p.L310F|NM_001098802,p.L310F	retained_intron, protein_coding, processed_transcript	uc011lsp.1	nonsynonymous SNV	exon7	c.C667T	p.L223F	DHSMMKAVIKKVLQNGRSAKSEYQW	DHSMMKAVIKKVFQNGRSAKSEYQW	6.0	9.0	-	-	3466_9:80863242-80863242 C>T_DHSMMKAVIKKVFQNGRSAKSEYQW
5:31302286-31302286 G>A	1.0	3466	MELANOMA	-	-	-	-	CDH6	uc003jhe.2,p.D294N|NM_004932,p.D294N|uc003jhd.2,p.D294N|ENST00000265071,p.D294N|ENST00000514738,p.D239N	retained_intron, protein_coding	uc003jhe.2	nonsynonymous SNV	exon6	c.G880A	p.D294N	PPGTPIGRIKASDADVGENAEIEYS	PPGTPIGRIKASNADVGENAEIEYS	10.0	8.0	unscreened	-	3466_5:31302286-31302286 G>A_PPGTPIGRIKASNADVGENAEIEYS
1:205814636-205814636 T>G	0.0	3466	MELANOMA	-	-	-	-	PM20D1	ENST00000367136,p.E102D|NM_152491,p.E102D|uc001hdj.3,p.E102D	protein_coding, processed_transcript	uc001hdj.3	nonsynonymous SNV	exon3	c.A306C	p.E102D	VVSTSFIQHEVVEEYSHLFTIQGSD	VVSTSFIQHEVVDEYSHLFTIQGSD	1.0	6.0	unscreened	-	3466_1:205814636-205814636 T>G_VVSTSFIQHEVVDEYSHLFTIQGSD
11:123988953-123988953 G>A	1.0	3466	MELANOMA	-	-	-	-	VWA5A	uc010sae.2,p.G118R|uc001pzr.3,p.G102R|ENST00000392748,p.G102R|uc001pzu.3,p.G102R|ENST00000456829,p.G102R|ENST00000449321,p.G102R|NM_198315,p.G102R|NM_001130142,p.G102R|ENST00000361352,p.G102R|uc001pzt.3,p.G102R|NM_014622,p.G102R|uc001pzs.3,p.G102R|ENST00000392744,p.G118R|ENST00000360334,p.G102R	retained_intron, protein_coding	uc010sae.2	nonsynonymous SNV	exon5	c.G352A	p.G118R	AISQGHQAFLLEGDSSSRDVFSCNV	AISQGHQAFLLERDSSSRDVFSCNV	5.0	2.0	unscreened	-	3466_11:123988953-123988953 G>A_AISQGHQAFLLERDSSSRDVFSCNV
14:104484519-104484519 G>A	0.0	3466	MELANOMA	-	-	-	-	TDRD9	ENST00000339063,p.D808N|ENST00000409874,p.D808N|uc001yon.4,p.D546N|uc001yom.4,p.D808N|NM_153046,p.D808N	retained_intron, protein_coding, processed_transcript	uc001yon.4	nonsynonymous SNV	exon18	c.G1636A	p.D546N	FRQCGQVKSIVFDGAKAFVEFSRNP	FRQCGQVKSIVFNGAKAFVEFSRNP	1.0	9.0	unscreened	-	3466_14:104484519-104484519 G>A_FRQCGQVKSIVFNGAKAFVEFSRNP
2:179547439-179547439 C>T	0.0	3466	MELANOMA	-	-	-	-	TTN	NM_133378,p.E9783K|ENST00000589042,p.E11027K|uc031rqd.1,p.E10710K|NM_001256850,p.E10710K|uc010fre.1,p.E630K|uc031rqc.1,p.E11027K|uc002umz.1,p.E6444K|ENST00000414766,p.E641K|ENST00000342992,p.E9783K|NM_001267550,p.E11027K|uc021vsy.2,p.E9783K|ENST00000591111,p.E10710K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon133	c.G32128A	p.E10710K	YEEREYERYEEHEEYITEPEKPIPV	YEEREYERYEEHKEYITEPEKPIPV	5.0	7.0	unscreened	-	3466_2:179547439-179547439 C>T_YEEREYERYEEHKEYITEPEKPIPV
8:67086725-67086725 C>T	0.0	3466	MELANOMA	-	-	-	-	TRIM55	uc003xvw.3,p.P419L|ENST00000353317,p.P419L|NM_184086,p.P419L	retained_intron, protein_coding	uc003xvw.3	nonsynonymous SNV	exon9	c.C1256T	p.P419L	DAPVTQIGFEAPPLQGQAAAPASGS	DAPVTQIGFEAPLLQGQAAAPASGS	1.0	9.0	unscreened	-	3466_8:67086725-67086725 C>T_DAPVTQIGFEAPLLQGQAAAPASGS
X:36379468-36379468 G>A	0.0	3466	MELANOMA	-	-	-	-	CXorf30	ENST00000446478,p.E10K	protein_coding	ENST00000446478	nonsynonymous SNV	exon1	c.G28A	p.E10K	LEIPKIHEFEYEIQFESEAMKS	LEIPKIHEFKYEIQFESEAMKS	1.0	9.0	unscreened	-	3466_X:36379468-36379468 G>A_LEIPKIHEFKYEIQFESEAMKS
12:95926637-95926637 T>A	0.0	3466	MELANOMA	-	-	-	-	USP44	ENST00000552440,p.N466Y	retained_intron, protein_coding, processed_transcript	ENST00000552440	nonsynonymous SNV	exon1	c.A1396T	p.N466Y	QRKLIKQVLNVVNNIFHGQLLSQQS	QRKLIKQVLNVVYNIFHGQLLSQQS	1.0	1.0	unscreened	-	3466_12:95926637-95926637 T>A_QRKLIKQVLNVVYNIFHGQLLSQQS
X:122387393-122387393 G>A	0.0	3466	MELANOMA	-	-	-	-	GRIA3	NM_000828,p.G170R|uc004etr.4,p.G170R|uc004etq.4,p.G170R|ENST00000541091,p.G154R|ENST00000371256,p.G170R|ENST00000371251,p.G170R|uc011muf.1,p.G154R|ENST00000542149,p.G170R|NM_007325,p.G170R|ENST00000264357,p.G170R	protein_coding, processed_transcript	uc011muf.1	nonsynonymous SNV	exon3	c.G460A	p.G154R	WEKFVYLYDTERGFSILQAIMEAAV	WEKFVYLYDTERRFSILQAIMEAAV	2.0	9.0	unscreened	-	3466_X:122387393-122387393 G>A_WEKFVYLYDTERRFSILQAIMEAAV
11:56043350-56043350 C>T	0.0	3466	MELANOMA	-	-	-	-	OR5T1	ENST00000313033,p.S79L|uc001nio.1,p.S79L|NM_001004745,p.S79L	protein_coding	uc001nio.1	nonsynonymous SNV	exon1	c.C236T	p.S79L	LHSPMYYFLGVLSFLDVCYSTVVTP	LHSPMYYFLGVLLFLDVCYSTVVTP	1.0	4.0	unscreened	-	3466_11:56043350-56043350 C>T_LHSPMYYFLGVLLFLDVCYSTVVTP
19:9074280-9074280 G>A	0.0	3466	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.T4389I|NM_024690,p.T4389I|ENST00000397910,p.T4389I	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C13166T	p.T4389I	LIMTESSGVTITTQTGPTGAATQGP	LIMTESSGVTITIQTGPTGAATQGP	1.0	2.0	unscreened	-	3466_19:9074280-9074280 G>A_LIMTESSGVTITIQTGPTGAATQGP
8:76465427-76465427 G>A	0.0	3466	MELANOMA	-	-	-	-	HNF4G	ENST00000396423,p.D204N|NM_004133,p.D204N|uc003yar.3,p.D204N|uc003yaq.3,p.D167N|ENST00000354370,p.D167N	protein_coding, processed_transcript	uc003yar.3	nonsynonymous SNV	exon5	c.G610A	p.D204N	KYIPAFCELPLDDQVALLRAHAGEH	KYIPAFCELPLDNQVALLRAHAGEH	2.0	8.0	unscreened	-	3466_8:76465427-76465427 G>A_KYIPAFCELPLDNQVALLRAHAGEH
14:60903714-60903714 G>A	0.0	3466	MELANOMA	-	-	-	-	C14orf39	ENST00000321731,p.P538L|uc001xez.4,p.P538L|NM_174978,p.P538L|uc010apo.3,p.P249L	protein_coding, nonsense_mediated_decay	uc010apo.3	nonsynonymous SNV	exon13	c.C746T	p.P249L	KPEGEDGFTFSFPSDTSTHTFGAGK	KPEGEDGFTFSFLSDTSTHTFGAGK	1.0	4.0	unscreened	-	3466_14:60903714-60903714 G>A_KPEGEDGFTFSFLSDTSTHTFGAGK
1:171173094-171173094 C>T	0.0	3466	MELANOMA	-	-	ID=COSM108215;OCCURENCE=1(endometrium),1(skin)	-	FMO2	ENST00000209929,p.R240C|uc001ghk.1,p.R240C|uc010pmd.1,p.R20C|ENST00000441535,p.R240C	retained_intron, protein_coding, processed_transcript	uc010pmd.1	nonsynonymous SNV	exon4	c.C58T	p.R20C	GYPWDSVFHTRFRSMLRNVLPRTAV	GYPWDSVFHTRFCSMLRNVLPRTAV	3.0	6.0	unscreened	-	3466_1:171173094-171173094 C>T_GYPWDSVFHTRFCSMLRNVLPRTAV
4:188924533-188924533 C>T	0.0	3466	MELANOMA	-	-	-	-	ZFP42	uc003izh.1,p.P191L|NM_174900,p.P191L|uc003izi.1,p.P191L|ENST00000326866,p.P191L|uc021xvm.1,p.P191L|ENST00000509524,p.P191L	protein_coding	uc021xvm.1	nonsynonymous SNV	exon1	c.C572T	p.P191L	NKEYDSLSAIACPQSGCTRKLRNRA	NKEYDSLSAIACLQSGCTRKLRNRA	1.0	6.0	unscreened	-	3466_4:188924533-188924533 C>T_NKEYDSLSAIACLQSGCTRKLRNRA
2:230910475-230910475 C>T	0.0	3466	MELANOMA	0.0009	-	-	-	SLC16A14	uc002vqd.2,p.G456E|NM_152527,p.G456E|ENST00000295190,p.G456E	protein_coding	uc002vqd.2	nonsynonymous SNV	exon4	c.G1367A	p.G456E	IIICANGISALLGPPFAGWIYDITQ	IIICANGISALLEPPFAGWIYDITQ	4.0	8.0	unscreened	-	3466_2:230910475-230910475 C>T_IIICANGISALLEPPFAGWIYDITQ
8:70594552-70594552 T>A	0.0	3466	MELANOMA	-	-	-	-	SLCO5A1	ENST00000524945,p.N550I|NM_001146009,p.N495I|uc003xyk.3,p.N550I|uc010lzb.3,p.N495I|NM_001146008,p.N550I|uc003xyl.3,p.N550I|ENST00000530307,p.N495I|NM_030958,p.N550I|ENST00000260126,p.N550I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lzb.3	nonsynonymous SNV	exon5	c.A1484T	p.N495I	YTTGPSLTMPHRNLTGSCNVNCGCK	YTTGPSLTMPHRILTGSCNVNCGCK	1.0	9.0	unscreened	-	3466_8:70594552-70594552 T>A_YTTGPSLTMPHRILTGSCNVNCGCK
7:31146129-31146129 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1673090;OCCURENCE=2(skin),1(haematopoietic_and_lymphoid_tissue)	-	ADCYAP1R1	ENST00000304166,p.R413Q|NM_001199636,p.R440Q|ENST00000396211,p.R441Q|ENST00000409363,p.R392Q|NM_001118,p.R413Q|NM_001199635,p.R441Q|NM_001199637,p.R392Q|uc003tcb.2,p.R392Q|uc003tcc.2,p.R441Q|uc003tca.2,p.R413Q|ENST00000409489,p.R469Q|uc003tce.2,p.R440Q|uc003tcg.3,p.R441Q	protein_coding	uc003tcg.3	nonsynonymous SNV	exon17	c.G1322A	p.R441Q	CFLNGEVQAEIKRKWRSWKVNRYFA	CFLNGEVQAEIKQKWRSWKVNRYFA	1.0	9.0	unscreened	-	3466_7:31146129-31146129 G>A_CFLNGEVQAEIKQKWRSWKVNRYFA
11:87032371-87032371 C>T	1.0	3466	MELANOMA	-	-	-	-	TMEM135	ENST00000532959,p.S329F|ENST00000340353,p.S436F|uc001pch.3,p.S458F|ENST00000535167,p.S319F|uc010rtt.2,p.S319F|NM_001168724,p.S436F|NM_022918,p.S458F|uc001pci.3,p.S436F|ENST00000305494,p.S458F	retained_intron, protein_coding	uc010rtt.2	nonsynonymous SNV	exon14	c.C956T	p.S319F	YTTVTPELPTEFS	YTTVTPELPTEFF	7.0	4.0	unscreened	-	3466_11:87032371-87032371 C>T_YTTVTPELPTEFF
3:101090902-101090902 C>T	0.0	3466	MELANOMA	-	-	-	-	SENP7	uc003duu.3,p.R184Q|uc003duv.3,p.R216Q|uc003dux.3,p.R85Q|ENST00000394091,p.R85Q|uc003duw.3,p.R183Q|NM_001282801,p.R183Q|NM_001282802,p.R216Q|ENST00000358203,p.R85Q|NM_020654,p.R249Q|NM_001282804,p.R151Q|ENST00000394094,p.R184Q|ENST00000348610,p.R216Q|ENST00000314261,p.R183Q|NM_001077203,p.R184Q|ENST00000394095,p.R249Q|NM_001282803,p.R85Q|uc003dut.3,p.R249Q	retained_intron, protein_coding	uc003dux.3	nonsynonymous SNV	exon4	c.G254A	p.R85Q	NSAKQTAHNKEKRRKDDGISLLISD	NSAKQTAHNKEKQRKDDGISLLISD	8.0	4.0	unscreened	-	3466_3:101090902-101090902 C>T_NSAKQTAHNKEKQRKDDGISLLISD
11:6291970-6291970 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1703501,COSM1703502;OCCURENCE=1(skin),1(pancreas)	-	CCKBR	uc001mcq.3,p.R178C|uc001mcp.3,p.R250C|NM_176875,p.R250C|uc001mcr.3,p.R250C|uc001mcs.3,p.R250C|ENST00000532715,p.R166C|ENST00000525462,p.R250C|ENST00000334619,p.R250C	protein_coding, processed_transcript	uc001mcs.3	nonsynonymous SNV	exon4	c.C748T	p.R250C	YGLISRELYLGLRFDGDSDSDSQSR	YGLISRELYLGLCFDGDSDSDSQSR	1.0	7.0	unscreened	-	3466_11:6291970-6291970 C>T_YGLISRELYLGLCFDGDSDSDSQSR
11:5021066-5021066 T>C	0.0	3466	MELANOMA	-	-	-	-	OR51L1	uc010qyu.2,p.L285P|NM_001004755,p.L285P|ENST00000321543,p.L285P	protein_coding	uc010qyu.2	nonsynonymous SNV	exon1	c.T854C	p.L285P	IVHILMADMYLLLPPVLNPIVYSVR	IVHILMADMYLLPPPVLNPIVYSVR	1.0	7.0	unscreened	Snp within 36 nucleotides, 11:5021055-5021055 C>G, residue 9 I>M PR	3466_11:5021066-5021066 T>C_IVHILMADMYLLPPPVLNPIVYSVR
2:40397466-40397466 G>A	0.0	3466	MELANOMA	-	-	-	-	SLC8A1	ENST00000332839,p.H665Y|ENST00000408028,p.H657Y|uc002rsb.2,p.H657Y|NM_001252624,p.H657Y|uc002rrx.3,p.H665Y|ENST00000403092,p.H665Y|NM_021097,p.H665Y	protein_coding, nonsense_mediated_decay	uc002rsb.2	nonsynonymous SNV	exon5	c.C1969T	p.H657Y	KYLFGQPVFRKVHAREHPILSTVIT	KYLFGQPVFRKVYAREHPILSTVIT	6.0	7.0	unscreened	-	3466_2:40397466-40397466 G>A_KYLFGQPVFRKVYAREHPILSTVIT
2:40397466-40397466 G>A	0.0	3466	MELANOMA	-	-	-	-	SLC8A1	ENST00000405901,p.H660Y|NM_001112801,p.H652Y|NM_001112800,p.H660Y|ENST00000542756,p.H660Y|uc002rrz.3,p.H652Y|uc002rry.3,p.H660Y	protein_coding, nonsense_mediated_decay	uc002rrz.3	nonsynonymous SNV	exon4	c.C1954T	p.H652Y	FTITGQPVFRKVHAREHPILSTVIT	FTITGQPVFRKVYAREHPILSTVIT	6.0	7.0	unscreened	-	3466_2:40397466-40397466 G>A_FTITGQPVFRKVYAREHPILSTVIT
X:100169383-100169383 T>A	0.0	3466	MELANOMA	-	-	-	-	XKRX	uc011mre.1,p.R228W|NM_212559,p.R432W|ENST00000372956,p.R432W|ENST00000328526,p.R445W|uc004egn.2,p.R432W	protein_coding	uc011mre.1	nonsynonymous SNV	exon2	c.A682T	p.R228W	LHCVCCHQHPRTRVENSEPPFETEA	LHCVCCHQHPRTWVENSEPPFETEA	1.0	9.0	unscreened	-	3466_X:100169383-100169383 T>A_LHCVCCHQHPRTWVENSEPPFETEA
8:2855611-2855611 C>T	0.0	3466	MELANOMA	-	-	-	-	CSMD1	ENST00000602557,p.G2768S|NM_033225,p.G2767S|ENST00000542608,p.G2709S|ENST00000537824,p.G2767S|ENST00000520002,p.G2768S|uc022aqr.1,p.G2767S|ENST00000602723,p.G2710S|uc010lrg.3,p.G778S|ENST00000400186,p.G2710S|uc011kwj.2,p.G2097S	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon54	c.G8299A	p.G2767S	NLNDVVNFTCNTGYLLQGVSRAQCR	NLNDVVNFTCNTSYLLQGVSRAQCR	1.0	1.0	unscreened	-	3466_8:2855611-2855611 C>T_NLNDVVNFTCNTSYLLQGVSRAQCR
11:55798361-55798361 C>T	0.0	3466	MELANOMA	-	-	-	-	OR5AS1	ENST00000313555,p.S156L|uc010riw.2,p.S156L|NM_001001921,p.S156L	protein_coding	uc010riw.2	nonsynonymous SNV	exon1	c.C467T	p.S156L	FIVLAYFSGSTTSLVHVCLTFRLSF	FIVLAYFSGSTTLLVHVCLTFRLSF	1.0	5.0	unscreened	-	3466_11:55798361-55798361 C>T_FIVLAYFSGSTTLLVHVCLTFRLSF
15:91292713-91292713 C>T	1.0	3466	MELANOMA	-	-	-	1	BLM	ENST00000355112,p.S72F|NM_001287247,p.S72F|uc010uqh.2,p.S72F|uc010bnx.3,p.S72F|NM_001287246,p.S72F|ENST00000560509,p.S72F|uc002bpr.3,p.S72F|ENST00000559724,p.S72F|NM_000057,p.S72F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uqh.2	nonsynonymous SNV	exon4	c.C215T	p.S72F	LRNKDVNVTEDFSFSEPLPNTTNQQ	LRNKDVNVTEDFFFSEPLPNTTNQQ	5.0	8.0	-	-	3466_15:91292713-91292713 C>T_LRNKDVNVTEDFFFSEPLPNTTNQQ
16:1391486-1391486 C>T	0.0	3466	MELANOMA	-	-	-	-	BAIAP3	NM_001199097,p.L243F|ENST00000562208,p.L220F|NM_001199096,p.L243F|ENST00000426824,p.L243F|NM_001199099,p.L215F|uc010uva.2,p.L215F|ENST00000568887,p.L215F|ENST00000421665,p.L243F|ENST00000397489,p.L260F|uc002clj.3,p.L260F|uc002clk.2,p.L278F|NM_001286464,p.L260F|ENST00000397488,p.L260F|uc010uuz.2,p.L243F|NM_003933,p.L278F|NM_001199098,p.L220F|uc021tag.1,p.L220F|uc010uvb.2,p.L295F|ENST00000324385,p.L278F|uc010uvc.1,p.L243F	retained_intron, protein_coding, processed_transcript	uc021tag.1	nonsynonymous SNV	exon8	c.C658T	p.L220F	SSTLNPVWKEHFLFEIEDVSTDQLH	SSTLNPVWKEHFFFEIEDVSTDQLH	2.0	2.0	unscreened	-	3466_16:1391486-1391486 C>T_SSTLNPVWKEHFFFEIEDVSTDQLH
5:45303878-45303878 G>A	0.0	3466	MELANOMA	-	-	-	-	HCN1	uc003jok.3,p.P481S|ENST00000303230,p.P481S|NM_021072,p.P481S	protein_coding	uc003jok.3	nonsynonymous SNV	exon6	c.C1441T	p.P481S	LVATMPLFANADPNFVTAMLSKLRF	LVATMPLFANADSNFVTAMLSKLRF	1.0	8.0	unscreened	-	3466_5:45303878-45303878 G>A_LVATMPLFANADSNFVTAMLSKLRF
19:16006382-16006382 C>T	0.0	3466	MELANOMA	-	-	-	-	CYP4F2	uc002nbs.1,p.G93R|ENST00000586927,p.G93R|ENST00000221700,p.G93R|NM_001082,p.G93R	retained_intron, protein_coding, nonsense_mediated_decay	uc002nbs.1	nonsynonymous SNV	exon3	c.G277A	p.G93R	VATYPQGFKVWMGPISPLLSLCHPD	VATYPQGFKVWMRPISPLLSLCHPD	1.0	7.0	unscreened	-	3466_19:16006382-16006382 C>T_VATYPQGFKVWMRPISPLLSLCHPD
1:6196844-6196844 C>T	0.0	3466	MELANOMA	-	-	ID=COSM911246;OCCURENCE=1(endometrium),1(upper_aerodigestive_tract)	-	CHD5	uc001amb.2,p.E840K|ENST00000262450,p.E840K|NM_015557,p.E840K|ENST00000496404,p.E840K	protein_coding, nonsense_mediated_decay	uc001amb.2	nonsynonymous SNV	exon16	c.G2518A	p.E840K	LITIDQAILGSIEWACLVVDEAHRL	LITIDQAILGSIKWACLVVDEAHRL	1.0	1.0	unscreened	-	3466_1:6196844-6196844 C>T_LITIDQAILGSIKWACLVVDEAHRL
2:234601705-234601705 G>A	0.0	3466	MELANOMA	-	-	-	-	UGT1A6	uc002vuv.4,p.A19T|ENST00000441351,p.A19T|uc010zmy.1,p.A19T|NM_001072,p.A19T|ENST00000305139,p.A19T	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zmy.1	nonsynonymous SNV	exon1	c.G55A	p.A19T	SFQRISAGVFFLALWGMVVGDKLLV	SFQRISAGVFFLTLWGMVVGDKLLV	1.0	7.0	unscreened	-	3466_2:234601705-234601705 G>A_SFQRISAGVFFLTLWGMVVGDKLLV
18:31318883-31318883 G>A	0.0	3466	MELANOMA	-	-	-	-	ASXL3	ENST00000269197,p.M505I|NM_030632,p.M505I|uc010dmg.1,p.M505I|uc002kxq.2,p.M212I	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dmg.1	nonsynonymous SNV	exon11	c.G1515A	p.M505I	APPEDNLESCVMMNDVLETLPHIEV	APPEDNLESCVMINDVLETLPHIEV	1.0	5.0	unscreened	-	3466_18:31318883-31318883 G>A_APPEDNLESCVMINDVLETLPHIEV
1:175066618-175066618 G>A	1.0	3466	MELANOMA	-	-	-	-	TNN	ENST00000239462,p.D552N|NM_022093,p.D552N|uc001gkl.1,p.D552N	protein_coding	uc001gkl.1	nonsynonymous SNV	exon8	c.G1654A	p.D552N	DRVTENTATISWDPVQATIDKYVVR	DRVTENTATISWNPVQATIDKYVVR	1.0	1.0	unscreened	-	3466_1:175066618-175066618 G>A_DRVTENTATISWNPVQATIDKYVVR
2:71591116-71591116 C>T	1.0	3466	MELANOMA	-	-	-	-	ZNF638	ENST00000409544,p.P484L|uc010fec.2,p.P590L|NM_001252613,p.P484L|NM_014497,p.P484L|uc002sib.1,p.P484L|ENST00000377802,p.P484L|uc002shy.3,p.P484L|NM_001252612,p.P484L|NM_001014972,p.P484L|uc002shx.3,p.P484L|uc002sia.3,p.P484L|ENST00000355812,p.P484L|uc002shw.3,p.P484L|ENST00000264447,p.P484L|uc002shz.3,p.P484L|uc010yqw.1,p.P63L	retained_intron, protein_coding, processed_transcript	uc010yqw.1	nonsynonymous SNV	exon3	c.C188T	p.P63L	RRNEGNRKENETPRRRSHSPSPRRS	RRNEGNRKENETLRRRSHSPSPRRS	10.0	1.0	-	-	3466_2:71591116-71591116 C>T_RRNEGNRKENETLRRRSHSPSPRRS
5:180582342-180582342 C>T	0.0	3466	MELANOMA	-	-	-	-	OR2V2	ENST00000328275,p.P134S|uc011dhj.2,p.P134S|NM_206880,p.P134S	protein_coding	uc011dhj.2	nonsynonymous SNV	exon1	c.C400T	p.P134S	DRYVAISHPLHYPILMNQRVCLQIT	DRYVAISHPLHYSILMNQRVCLQIT	1.0	9.0	unscreened	-	3466_5:180582342-180582342 C>T_DRYVAISHPLHYSILMNQRVCLQIT
1:60106962-60106962 G>A	0.0	3466	MELANOMA	-	-	-	-	FGGY	ENST00000371218,p.G411E|uc009wac.3,p.G411E|NM_001113411,p.G411E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009wac.3	nonsynonymous SNV	exon12	c.G1232A	p.G411E	LADLTLKGMRTTGYLYIPALAALHS	LADLTLKGMRTTEYLYIPALAALHS	4.0	7.0	-	-	3466_1:60106962-60106962 G>A_LADLTLKGMRTTEYLYIPALAALHS
14:69262893-69262893 G>A	0.0	3466	MELANOMA	-	-	-	-	ZFP36L1	ENST00000408913,p.S40F|uc021rvf.1,p.S40F	protein_coding	uc021rvf.1	nonsynonymous SNV	exon1	c.C119T	p.S40F	TTTSKLKYLGRPSPRRDALQANGEG	TTTSKLKYLGRPFPRRDALQANGEG	10.0	7.0	unscreened	-	3466_14:69262893-69262893 G>A_TTTSKLKYLGRPFPRRDALQANGEG
11:64822123-64822123 C>T	0.0	3466	MELANOMA	-	-	ID=COSM689623;OCCURENCE=1(lung),1(breast),1(large_intestine)	-	NAALADL1	ENST00000358658,p.E231K|NM_005468,p.E231K|ENST00000339885,p.E231K|ENST00000356632,p.E231K|ENST00000355369,p.E231K|ENST00000355721,p.E190K|uc001ocn.3,p.E231K|ENST00000340252,p.E231K	retained_intron, protein_coding, nonsense_mediated_decay	uc001ocn.3	nonsynonymous SNV	exon5	c.G691A	p.E231K	PADINDGLSSPDETFPNSWYLPPSG	PADINDGLSSPDKTFPNSWYLPPSG	3.0	5.0	unscreened	-	3466_11:64822123-64822123 C>T_PADINDGLSSPDKTFPNSWYLPPSG
17:44060595-44060595 C>T	0.0	3466	MELANOMA	-	-	-	-	MAPT	uc002ijr.4,p.P142L|ENST00000262410,p.P142L|ENST00000344290,p.P142L|uc010dau.3,p.P142L|ENST00000571987,p.P142L|NM_016835,p.P142L|ENST00000415613,p.P142L|NM_001123066,p.P142L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dau.3	nonsynonymous SNV	exon6	c.C425T	p.P142L	KVVQEGFLREPGPPGLSHQLMSGMP	KVVQEGFLREPGLPGLSHQLMSGMP	1.0	9.0	unscreened	-	3466_17:44060595-44060595 C>T_KVVQEGFLREPGLPGLSHQLMSGMP
16:1398005-1398005 G>A	0.0	3466	MELANOMA	-	-	-	-	BAIAP3	uc002clj.3,p.E1063K|NM_001286464,p.E1063K|ENST00000397488,p.E1063K|ENST00000426824,p.E1046K|NM_001199096,p.E1010K|ENST00000562208,p.E1023K|ENST00000324385,p.E1081K|ENST00000421665,p.E1010K|NM_001199099,p.E1018K|uc010uuz.2,p.E1046K|uc002clk.2,p.E1081K|uc021tag.1,p.E1023K|NM_001199097,p.E1046K|uc010uvc.1,p.E1010K|NM_003933,p.E1081K|ENST00000568887,p.E1018K|ENST00000397489,p.E1063K|uc010uva.2,p.E1018K|NM_001199098,p.E1023K	retained_intron, protein_coding, processed_transcript	uc021tag.1	nonsynonymous SNV	exon32	c.G3067A	p.E1023K	QVKTRTLHPVYDELFYFSVPAEACR	QVKTRTLHPVYDKLFYFSVPAEACR	2.0	7.0	unscreened	-	3466_16:1398005-1398005 G>A_QVKTRTLHPVYDKLFYFSVPAEACR
16:51175117-51175117 G>A	0.0	3466	MELANOMA	-	-	-	-	SALL1	NM_001127892,p.P242L|NM_002968,p.P339L|ENST00000570206,p.P242L|uc021tif.1,p.P242L|ENST00000440970,p.P242L|uc021tid.1,p.P242L|uc021tie.1,p.P339L|ENST00000251020,p.P339L	protein_coding, processed_transcript	uc021tif.1	nonsynonymous SNV	exon2	c.C725T	p.P242L	GNTIIPSNSGSSPNMNILAAAVTTP	GNTIIPSNSGSSLNMNILAAAVTTP	1.0	6.0	unscreened	-	3466_16:51175117-51175117 G>A_GNTIIPSNSGSSLNMNILAAAVTTP
X:36402936-36402936 G>A	0.0	3466	MELANOMA	-	-	-	-	CXorf30	NM_001098843,p.E573K|ENST00000378653,p.E858K|uc011mkc.3,p.E573K|ENST00000378657,p.E573K	protein_coding	uc011mkc.3	nonsynonymous SNV	exon19	c.G1717A	p.E573K	LVIQTEEMYWKYEINGLTPTTVPPK	LVIQTEEMYWKYKINGLTPTTVPPK	1.0	9.0	unscreened	-	3466_X:36402936-36402936 G>A_LVIQTEEMYWKYKINGLTPTTVPPK
20:31379480-31379480 T>A	0.0	3466	MELANOMA	-	-	-	-	DNMT3B	ENST00000375623,p.V254D	protein_coding	ENST00000375623	nonsynonymous SNV	exon7	c.T761A	p.V254D	SQHFNLATFNKLVSYRKAMYHALER	SQHFNLATFNKLDSYRKAMYHALER	3.0	1.0	unscreened	-	3466_20:31379480-31379480 T>A_SQHFNLATFNKLDSYRKAMYHALER
9:125437994-125437994 G>A	0.0	3466	MELANOMA	-	-	-	-	OR1L3	NM_001005234,p.E196K|uc011lzb.2,p.E196K|ENST00000304820,p.E196K	protein_coding	uc011lzb.2	nonsynonymous SNV	exon1	c.G586A	p.E196K	VLKLSCSSTFVNEIVAMTEGLASVM	VLKLSCSSTFVNKIVAMTEGLASVM	1.0	9.0	unscreened	-	3466_9:125437994-125437994 G>A_VLKLSCSSTFVNKIVAMTEGLASVM
2:166892953-166892953 G>A	0.0	3466	MELANOMA	-	-	-	-	SCN1A	ENST00000375405,p.L1001F|NM_001202435,p.L1012F|NM_001165964,p.L984F|ENST00000303395,p.L1012F|NM_001165963,p.L1012F|uc010fpk.3,p.L984F|NM_006920,p.L1001F|ENST00000423058,p.L1012F|uc021vsb.1,p.L1001F|ENST00000409050,p.L984F|uc002udo.4,p.L1012F	retained_intron, protein_coding	uc021vsb.1	nonsynonymous SNV	exon16	c.C3001T	p.L1001F	LAATDDDNEMNNLQIAVDRMHKGVA	LAATDDDNEMNNFQIAVDRMHKGVA	1.0	2.0	unscreened	-	3466_2:166892953-166892953 G>A_LAATDDDNEMNNFQIAVDRMHKGVA
11:48152238-48152238 G>A	1.0	3466	MELANOMA	-	-	-	-	PTPRJ	NM_002843,p.G529R|ENST00000418331,p.G529R|uc001ngp.4,p.G529R	retained_intron, protein_coding, processed_transcript	uc001ngp.4	nonsynonymous SNV	exon8	c.G1585A	p.G529R	FEIVPKGPNGTEGASRTVCNRTVPS	FEIVPKGPNGTERASRTVCNRTVPS	9.0	2.0	unscreened	-	3466_11:48152238-48152238 G>A_FEIVPKGPNGTERASRTVCNRTVPS
11:5363833-5363833 G>A	0.0	3466	MELANOMA	-	-	-	-	OR51B5	uc001maq.2,p.H308Y|NM_001005567,p.H308Y|uc001map.1,p.H308Y|ENST00000300773,p.H308Y	protein_coding	uc001maq.2	nonsynonymous SNV	exon5	c.C922T	p.H308Y	QIQNAILHLFTTHRIGT	QIQNAILHLFTTYRIGT	1.0	2.0	unscreened	-	3466_11:5363833-5363833 G>A_QIQNAILHLFTTYRIGT
10:129906685-129906685 G>A	1.0	3466	MELANOMA	-	-	-	-	MKI67	NM_001145966,p.P780L|uc009yaw.1,p.P290L|NM_002417,p.P1140L|uc009yav.1,p.P715L|uc001lke.3,p.P1140L|ENST00000368653,p.P780L|ENST00000368654,p.P1140L|uc001lkf.3,p.P780L	protein_coding, processed_transcript	uc009yaw.1	nonsynonymous SNV	exon2	c.C869T	p.P290L	ACKSPPPESVDTPTSTKQWPKRSLR	ACKSPPPESVDTLTSTKQWPKRSLR	9.0	5.0	-	-	3466_10:129906685-129906685 G>A_ACKSPPPESVDTLTSTKQWPKRSLR
2:152432783-152432783 G>A	0.0	3466	MELANOMA	-	-	ID=COSM222709;OCCURENCE=1(skin)	-	NEB	uc021vrc.1,p.A5597V|uc021vrb.1,p.A3896V|NM_001164507,p.A5597V|ENST00000427231,p.A5597V|ENST00000603639,p.A5597V|uc021vrd.1,p.A3896V|ENST00000172853,p.A3896V|NM_001271208,p.A5597V|uc002txu.3,p.A5597V|ENST00000604864,p.A5597V|NM_001164508,p.A5597V|uc031rpp.1,p.A5597V|ENST00000413693,p.A327V|ENST00000409198,p.A3896V|uc002txr.3,p.A362V|ENST00000397345,p.A5597V	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon106	c.C16790T	p.A5597V	PQGSPEVLRVKNAQNIFCDSVYRTP	PQGSPEVLRVKNVQNIFCDSVYRTP	6.0	2.0	unscreened	-	3466_2:152432783-152432783 G>A_PQGSPEVLRVKNVQNIFCDSVYRTP
20:31379480-31379480 T>A	0.0	3466	MELANOMA	-	-	-	-	DNMT3B	NM_175848,p.V296D|uc002wyc.3,p.V296D|uc002wyd.3,p.V296D|uc010ztz.2,p.V254D|NM_175850,p.V308D|uc010zua.2,p.V220D|uc002wyf.3,p.V308D|NM_001207056,p.V220D|NM_001207055,p.V254D|ENST00000201963,p.V308D|ENST00000328111,p.V296D|ENST00000456297,p.V220D|ENST00000348286,p.V296D|ENST00000443239,p.V254D|ENST00000344505,p.V296D|uc002wye.3,p.V296D|NM_175849,p.V296D|NM_006892,p.V296D|ENST00000353855,p.V296D	protein_coding	uc010zua.2	nonsynonymous SNV	exon6	c.T659A	p.V220D	SQHFNLATFNKLVSYRKAMYHALEK	SQHFNLATFNKLDSYRKAMYHALEK	3.0	1.0	unscreened	-	3466_20:31379480-31379480 T>A_SQHFNLATFNKLDSYRKAMYHALEK
6:76333669-76333669 G>A	1.0	3466	MELANOMA	-	-	-	-	SENP6	ENST00000327284,p.G67E|uc003pie.4,p.G67E|ENST00000447266,p.G67E|NM_015571,p.G67E|uc003pid.4,p.G67E|ENST00000370010,p.G67E|ENST00000370014,p.G67E|uc003pic.2,p.G67E|NM_001100409,p.G67E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pie.4	nonsynonymous SNV	exon3	c.G200A	p.G67E	SVDEDEDSETSKGKKLNRRSEIVAN	SVDEDEDSETSKEKKLNRRSEIVAN	10.0	9.0	unscreened	-	3466_6:76333669-76333669 G>A_SVDEDEDSETSKEKKLNRRSEIVAN
12:47629048-47629048 G>A	0.0	3466	MELANOMA	-	-	-	-	PCED1B	NM_138371,p.G68S|ENST00000432328,p.G68S|ENST00000549500,p.G68S|ENST00000549630,p.G68S|NM_001281429,p.G68S|uc001rpn.3,p.G68S|uc021qxi.1,p.G68S|uc001rpq.3,p.G68S|ENST00000546455,p.G68S	protein_coding	uc021qxi.1	nonsynonymous SNV	exon1	c.G202A	p.G68S	FEQDELVDGGQRGHMHNGLNYREVR	FEQDELVDGGQRSHMHNGLNYREVR	6.0	9.0	unscreened	-	3466_12:47629048-47629048 G>A_FEQDELVDGGQRSHMHNGLNYREVR
1:190250828-190250828 G>A	0.0	3466	MELANOMA	-	-	-	-	BRINP3	uc001gse.1,p.L97F|ENST00000367462,p.L97F|NM_199051,p.L97F	protein_coding, processed_transcript	uc001gse.1	nonsynonymous SNV	exon3	c.C289T	p.L97F	KVNNLAVERRNFLGSPLPLAPEFFR	KVNNLAVERRNFFGSPLPLAPEFFR	1.0	2.0	unscreened	-	3466_1:190250828-190250828 G>A_KVNNLAVERRNFFGSPLPLAPEFFR
11:5462089-5462089 G>A	0.0	3466	MELANOMA	-	-	-	-	OR51I1	NM_001005288,p.S219F|ENST00000380211,p.S219F|uc010qze.2,p.S219F	protein_coding	uc010qze.2	nonsynonymous SNV	exon1	c.C656T	p.S219F	FTYGMDSTFILLSYALILRAMLVII	FTYGMDSTFILLFYALILRAMLVII	1.0	8.0	unscreened	-	3466_11:5462089-5462089 G>A_FTYGMDSTFILLFYALILRAMLVII
2:31147018-31147018 A>C	1.0	3466	MELANOMA	-	-	-	-	GALNT14	uc002rnq.3,p.C429W|ENST00000349752,p.C449W|ENST00000356174,p.C416W|uc010ymr.2,p.C414W|NM_024572,p.C449W|NM_001253827,p.C429W|uc002rns.3,p.C454W|ENST00000324589,p.C454W|ENST00000406653,p.C429W|ENST00000420311,p.C414W|uc002rnr.3,p.C449W|NM_001253826,p.C454W	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ymr.2	nonsynonymous SNV	exon14	c.T1242G	p.C414W	NNQETPNLKLSPCAKVKGEDAKSQV	NNQETPNLKLSPWAKVKGEDAKSQV	3.0	2.0	unscreened	-	3466_2:31147018-31147018 A>C_NNQETPNLKLSPWAKVKGEDAKSQV
11:113854009-113854009 C>T	0.0	3466	MELANOMA	-	-	-	-	HTR3A	ENST00000504030,p.T181I|NM_000869,p.T187I|ENST00000355556,p.T187I|NM_001161772,p.T166I|NM_213621,p.T187I|ENST00000299961,p.T166I|uc010rxc.2,p.T166I|ENST00000506841,p.T181I|uc010rxa.2,p.T187I|ENST00000375498,p.T187I|uc010rxb.2,p.T187I	retained_intron, protein_coding, nonsense_mediated_decay	uc010rxc.2	nonsynonymous SNV	exon5	c.C497T	p.T166I	QNCSLTFTSWLHTIQDINISLWRLP	QNCSLTFTSWLHIIQDINISLWRLP	1.0	3.0	unscreened	-	3466_11:113854009-113854009 C>T_QNCSLTFTSWLHIIQDINISLWRLP
22:39908384-39908384 C>T	1.0	3466	MELANOMA	-	-	-	-	MIEF1	ENST00000402881,p.A157V|ENST00000325301,p.A157V|NM_019008,p.A157V|uc003axx.3,p.A157V|ENST00000404569,p.A157V|uc003axw.3,p.A157V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003axx.3	nonsynonymous SNV	exon5	c.C470T	p.A157V	NRAAIPAGEQARAKQAAVDICAELR	NRAAIPAGEQARVKQAAVDICAELR	8.0	3.0	-	-	3466_22:39908384-39908384 C>T_NRAAIPAGEQARVKQAAVDICAELR
8:67786588-67786588 G>A	0.0	3466	MELANOMA	-	-	-	-	MCMDC2	NM_173518,p.R41Q|ENST00000313616,p.R41Q|uc003xwy.4,p.R41Q|NM_001136160,p.R41Q|ENST00000422365,p.R41Q|uc003xwz.4,p.R41Q|uc011lev.2,p.R41Q|NM_001136161,p.R41Q|ENST00000396592,p.R41Q|ENST00000492775,p.R41Q|uc003xwv.3,p.R41Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc011lev.2	nonsynonymous SNV	exon3	c.G122A	p.R41Q	YYNDSKQSYAVYRFKILINPSDVVE	YYNDSKQSYAVYQFKILINPSDVVE	1.0	9.0	unscreened	-	3466_8:67786588-67786588 G>A_YYNDSKQSYAVYQFKILINPSDVVE
19:55253710-55253710 G>A	0.0	3466	MELANOMA	-	-	-	-	KIR2DL3	NM_015868,p.D119N|ENST00000434419,p.D119N|uc010erw.1,p.D119N|ENST00000342376,p.D119N|uc002qgz.1,p.D29N|uc002qha.2,p.D29N|uc002qgx.3,p.D119N	protein_coding	uc010erw.1	nonsynonymous SNV	exon3	c.G355A	p.D119N	SPYQLSAPSDPLDIVITGLYEKPSL	SPYQLSAPSDPLNIVITGLYEKPSL	1.0	1.0	unscreened	-	3466_19:55253710-55253710 G>A_SPYQLSAPSDPLNIVITGLYEKPSL
19:51466627-51466627 G>A	0.0	3466	MELANOMA	-	-	-	-	KLK6	NM_001012964,p.P126S|ENST00000310157,p.P126S|uc002pui.3,p.P126S|NM_002774,p.P126S|ENST00000594641,p.P126S|uc002pul.3,p.P126S|ENST00000391808,p.P19S|NM_001012965,p.P19S|uc002pum.3,p.P19S|ENST00000456750,p.P19S|uc002puh.3,p.P135S|ENST00000376851,p.P126S|uc002puj.3,p.P19S	protein_coding, nonsense_mediated_decay	uc002pum.3	nonsynonymous SNV	exon4	c.C55T	p.P19S	RPAKLSELIQPLPLERDCSANTTSC	RPAKLSELIQPLSLERDCSANTTSC	1.0	8.0	unscreened	-	3466_19:51466627-51466627 G>A_RPAKLSELIQPLSLERDCSANTTSC
8:110454338-110454338 G>A	0.0	3466	MELANOMA	-	-	-	-	PKHD1L1	ENST00000378402,p.G1436E|NM_177531,p.G1436E|uc003yne.3,p.G1436E	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon35	c.G4307A	p.G1436E	WHWQTHPFLRGIGYRIFSVSSPGSV	WHWQTHPFLRGIEYRIFSVSSPGSV	1.0	9.0	unscreened	-	3466_8:110454338-110454338 G>A_WHWQTHPFLRGIEYRIFSVSSPGSV
X:135494458-135494458 G>T	0.0	3466	MELANOMA	-	-	-	-	GPR112	ENST00000394143,p.K2990N|ENST00000394141,p.K2785N|uc004ezu.1,p.K2990N|ENST00000412101,p.K2785N|ENST00000370652,p.K2990N|uc010nsb.1,p.K2785N|NM_153834,p.K2990N	protein_coding	uc010nsb.1	nonsynonymous SNV	exon21	c.G8355T	p.K2785N	QGFFIFVFHCVMKESVREQWQIHLC	QGFFIFVFHCVMNESVREQWQIHLC	1.0	9.0	unscreened	-	3466_X:135494458-135494458 G>T_QGFFIFVFHCVMNESVREQWQIHLC
2:228882872-228882872 T>G	0.0	3466	MELANOMA	-	-	-	-	SPHKAP	uc002vpq.2,p.N900H|uc002vpp.2,p.N900H|ENST00000392056,p.N900H|uc010zlx.1,p.N900H|NM_001142644,p.N900H|ENST00000344657,p.N900H|NM_030623,p.N900H	retained_intron, protein_coding	uc010zlx.1	nonsynonymous SNV	exon7	c.A2698C	p.N900H	NCATSRINEVQVNLSLLGDDLLLPA	NCATSRINEVQVHLSLLGDDLLLPA	1.0	2.0	unscreened	-	3466_2:228882872-228882872 T>G_NCATSRINEVQVHLSLLGDDLLLPA
1:177908878-177908878 G>A	1.0	3466	MELANOMA	-	-	-	-	SEC16B	uc009wwy.1,p.P276L|uc001gli.1,p.P721L|uc001glk.1,p.P398L|uc001glj.1,p.P722L|uc001glh.1,p.P380L|NM_033127,p.P721L|ENST00000308284,p.P721L|uc009wwz.1,p.P380L	retained_intron, protein_coding, processed_transcript	uc009wwz.1	nonsynonymous SNV	exon17	c.C1139T	p.P380L	EQKVAGDIGDPHPTRSDISGAGGTT	EQKVAGDIGDPHLTRSDISGAGGTT	4.0	6.0	unscreened	-	3466_1:177908878-177908878 G>A_EQKVAGDIGDPHLTRSDISGAGGTT
1:157773794-157773794 A>G	0.0	3466	MELANOMA	-	-	-	-	FCRL1	NM_052938,p.F54L|NM_001159398,p.F54L|ENST00000368176,p.F54L|NM_001159397,p.F54L|uc001fri.3,p.F54L|uc001frg.3,p.F54L|ENST00000358292,p.F54L|uc001frh.3,p.F54L|ENST00000491942,p.F54L	protein_coding, processed_transcript	uc001fri.3	nonsynonymous SNV	exon3	c.T160C	p.F54L	FLQSSDAQFQFCFFRDTRALGPGWS	FLQSSDAQFQFCLFRDTRALGPGWS	1.0	3.0	unscreened	-	3466_1:157773794-157773794 A>G_FLQSSDAQFQFCLFRDTRALGPGWS
7:142605849-142605849 C>T	0.0	3466	MELANOMA	-	-	-	-	TRPV5	uc003wby.1,p.G674E|NM_019841,p.G674E|ENST00000439304,p.G619E|ENST00000265310,p.G674E	protein_coding	uc003wby.1	nonsynonymous SNV	exon15	c.G2021A	p.G674E	HPSEKQPSGAESGTLARASLALPTS	HPSEKQPSGAESETLARASLALPTS	2.0	9.0	unscreened	-	3466_7:142605849-142605849 C>T_HPSEKQPSGAESETLARASLALPTS
2:234106749-234106749 C>T	0.0	3466	MELANOMA	-	-	-	-	INPP5D	ENST00000435188,p.P522L|ENST00000450745,p.P653L|ENST00000445964,p.P522L|ENST00000417661,p.P23L|ENST00000415617,p.P522L|ENST00000359570,p.P889L|ENST00000455936,p.P653L	retained_intron, protein_coding, processed_transcript	ENST00000455936	nonsynonymous SNV	exon20	c.C1958T	p.P653L	PMKQWEVTSRAPPCSGSSITEIINP	PMKQWEVTSRAPLCSGSSITEIINP	7.0	6.0	unscreened	-	3466_2:234106749-234106749 C>T_PMKQWEVTSRAPLCSGSSITEIINP
18:29044213-29044213 G>A	0.0	3466	MELANOMA	-	-	ID=COSM108465;OCCURENCE=1(skin)	-	DSG3	ENST00000257189,p.G380E|NM_001944,p.G380E|uc002kws.3,p.G380E	protein_coding	uc002kws.3	nonsynonymous SNV	exon9	c.G1139A	p.G380E	TPVTIQVINVREGIAFRPASKTFTV	TPVTIQVINVREEIAFRPASKTFTV	1.0	4.0	unscreened	-	3466_18:29044213-29044213 G>A_TPVTIQVINVREEIAFRPASKTFTV
19:46664062-46664062 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1394732;OCCURENCE=1(large_intestine)	-	IGFL2	ENST00000434646,p.D100N|NM_001135113,p.D89N|NM_001002915,p.D100N|ENST00000377693,p.D89N|uc010xxv.2,p.D89N|ENST00000601052,p.D55N|uc002peb.3,p.D100N	retained_intron, protein_coding, processed_transcript	uc010xxv.2	nonsynonymous SNV	exon3	c.G265A	p.D89N	ELCCLDSFGLTNDFVVKLKVQGVNS	ELCCLDSFGLTNNFVVKLKVQGVNS	1.0	2.0	unscreened	-	3466_19:46664062-46664062 G>A_ELCCLDSFGLTNNFVVKLKVQGVNS
18:28723666-28723666 G>A	0.0	3466	MELANOMA	-	-	-	-	DSC1	NM_004948,p.S343L|ENST00000257198,p.S343L|uc002kwm.3,p.S343L|NM_024421,p.S343L|ENST00000257197,p.S343L|uc002kwn.3,p.S343L	protein_coding	uc002kwn.3	nonsynonymous SNV	exon8	c.C1028T	p.S343L	PFGLFNTGTITISLEDENDNPPSFT	PFGLFNTGTITILLEDENDNPPSFT	1.0	6.0	unscreened	-	3466_18:28723666-28723666 G>A_PFGLFNTGTITILLEDENDNPPSFT
7:4089038-4089038 G>C	0.0	3466	MELANOMA	-	-	-	-	SDK1	NM_152744,p.Q887H|uc003smx.3,p.Q887H|ENST00000389531,p.Q887H|ENST00000404826,p.Q887H|uc010kso.3,p.Q163H	retained_intron, protein_coding, processed_transcript	uc010kso.3	nonsynonymous SNV	exon4	c.G489C	p.Q163H	NVQTEAVNSTTIQFLWNPPPQQFIN	NVQTEAVNSTTIHFLWNPPPQQFIN	3.0	9.0	unscreened	-	3466_7:4089038-4089038 G>C_NVQTEAVNSTTIHFLWNPPPQQFIN
5:45396809-45396809 C>T	0.0	3466	MELANOMA	-	-	ID=COSM227488;OCCURENCE=1(skin)	-	HCN1	ENST00000303230,p.D339N|uc003jok.3,p.D339N|NM_021072,p.D339N	protein_coding	uc003jok.3	nonsynonymous SNV	exon4	c.G1015A	p.D339N	PDCWVSLNEMVNDSWGKQYSYALFK	PDCWVSLNEMVNNSWGKQYSYALFK	1.0	4.0	unscreened	-	3466_5:45396809-45396809 C>T_PDCWVSLNEMVNNSWGKQYSYALFK
6:55128600-55128600 C>T	0.0	3466	MELANOMA	-	-	ID=COSM222105;OCCURENCE=2(skin)	-	HCRTR2	uc010jzw.1,p.R183C	protein_coding	uc010jzw.1	nonsynonymous SNV	exon4	c.C547T	p.R183C	LCLMVLAYLQIFRKLWCRQVYSFKY	LCLMVLAYLQIFCKLWCRQVYSFKY	1.0	1.0	unscreened	-	3466_6:55128600-55128600 C>T_LCLMVLAYLQIFCKLWCRQVYSFKY
7:50444386-50444386 G>A	0.0	3466	MELANOMA	-	-	-	1	IKZF1	ENST00000359197,p.G106R|uc022acx.1,p.G106R|NM_001220771,p.G106R|NM_006060,p.G106R|uc022acq.1,p.G106R|uc003tow.4,p.G106R|ENST00000440768,p.G106R|ENST00000331340,p.G106R|uc003toz.4,p.G76R|NM_001220768,p.G106R|ENST00000439701,p.G106R|ENST00000357364,p.G106R|NM_001291837,p.G106R|NM_001220765,p.G106R|ENST00000349824,p.G106R|uc003toy.4,p.G106R|uc003tox.4,p.G106R	retained_intron, protein_coding, processed_transcript	uc022acx.1	nonsynonymous SNV	exon4	c.G316A	p.G106R	GSHRDQGSSALSGVGGIRLPNGKLK	GSHRDQGSSALSRVGGIRLPNGKLK	6.0	8.0	unscreened	-	3466_7:50444386-50444386 G>A_GSHRDQGSSALSRVGGIRLPNGKLK
15:88423511-88423511 G>A	0.0	3466	MELANOMA	-	-	-	1	NTRK3	ENST00000557856,p.S753L|ENST00000357724,p.S767L|NM_001012338,p.S775L|ENST00000360948,p.S775L|ENST00000355254,p.S761L|uc002bmh.2,p.S753L|NM_002530,p.S761L|uc002bme.2,p.S775L|uc002bmf.2,p.S761L|NM_001243101,p.S753L|ENST00000394480,p.S761L|uc021sua.1,p.S753L	protein_coding, processed_transcript	uc021sua.1	nonsynonymous SNV	exon17	c.C2258T	p.S753L	IFTYGKQPWFQLSNTEVIECITQGR	IFTYGKQPWFQLLNTEVIECITQGR	4.0	7.0	unscreened	-	3466_15:88423511-88423511 G>A_IFTYGKQPWFQLLNTEVIECITQGR
18:14752964-14752964 G>A	0.0	3466	MELANOMA	-	-	-	-	ANKRD30B	ENST00000580206,p.V155M|uc021uhy.1,p.V155M|ENST00000358984,p.V155M|ENST00000447268,p.V155M|NM_001145029,p.V155M|uc010dlo.2,p.V155M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021uhy.1	nonsynonymous SNV	exon3	c.G463A	p.V155M	LHYAVYSENLLMVATLLSYGAVIEV	LHYAVYSENLLMMATLLSYGAVIEV	1.0	8.0	unscreened	-	3466_18:14752964-14752964 G>A_LHYAVYSENLLMMATLLSYGAVIEV
15:54786809-54786809 A>T	0.0	3466	MELANOMA	-	-	-	-	UNC13C	uc021sms.1,p.H1646L|ENST00000537900,p.H1644L|NM_001080534,p.H1646L|ENST00000545554,p.H1646L|ENST00000260323,p.H1646L	retained_intron, protein_coding	uc021sms.1	nonsynonymous SNV	exon19	c.A4937T	p.H1646L	LFALDMKYALEEHENQRLCKSTDYM	LFALDMKYALEELENQRLCKSTDYM	1.0	1.0	unscreened	-	3466_15:54786809-54786809 A>T_LFALDMKYALEELENQRLCKSTDYM
X:73961192-73961192 G>A	0.0	3466	MELANOMA	-	-	-	-	KIAA2022	ENST00000373468,p.S1067F|NM_001008537,p.S1067F|uc004eby.3,p.S1067F|ENST00000055682,p.S1067F	protein_coding	uc004eby.3	nonsynonymous SNV	exon3	c.C3200T	p.S1067F	ISNFTPDKFRHSSLSEMSPPDTPSL	ISNFTPDKFRHSFLSEMSPPDTPSL	1.0	9.0	unscreened	-	3466_X:73961192-73961192 G>A_ISNFTPDKFRHSFLSEMSPPDTPSL
1:208072337-208072337 G>A	0.0	3466	MELANOMA	-	-	-	-	CD34	ENST00000356522,p.P166L|NM_001025109,p.P166L|ENST00000310833,p.P166L|NM_001773,p.P166L|uc001hgw.1,p.P166L|uc001hgx.1,p.P166L	protein_coding, processed_transcript	uc001hgx.1	nonsynonymous SNV	exon3	c.C497T	p.P166L	ATSPTKPYTSSSPILSDIKAEIKCS	ATSPTKPYTSSSLILSDIKAEIKCS	5.0	7.0	unscreened	-	3466_1:208072337-208072337 G>A_ATSPTKPYTSSSLILSDIKAEIKCS
7:12399230-12399230 G>A	0.0	3466	MELANOMA	-	-	-	-	VWDE	uc011jxm.1,p.S537L|ENST00000452576,p.S1083L|NM_001135924,p.S1083L|uc003ssj.2,p.S1083L|ENST00000275358,p.S1083L	retained_intron, protein_coding, nonsense_mediated_decay	uc011jxm.1	nonsynonymous SNV	exon13	c.C1610T	p.S537L	PTSPCLICRPKISRFTWSFLENNQP	PTSPCLICRPKILRFTWSFLENNQP	1.0	1.0	unscreened	-	3466_7:12399230-12399230 G>A_PTSPCLICRPKILRFTWSFLENNQP
8:68981315-68981315 C>T	0.0	3466	MELANOMA	-	-	ID=COSM231642,COSM231641;OCCURENCE=1(skin)	1	PREX2	NM_024870,p.R463C|NM_025170,p.R463C|uc003xxu.1,p.R463C|ENST00000288368,p.R463C|uc003xxv.1,p.R463C|uc011lez.1,p.R398C	protein_coding, processed_transcript	uc011lez.1	nonsynonymous SNV	exon10	c.C1192T	p.R398C	HQFKPEQMLYRFRYDDGTFYPRNEM	HQFKPEQMLYRFCYDDGTFYPRNEM	3.0	9.0	unscreened	-	3466_8:68981315-68981315 C>T_HQFKPEQMLYRFCYDDGTFYPRNEM
19:9801782-9801782 C>T	0.0	3466	MELANOMA	-	-	-	-	ZNF812	uc010xkx.2,p.G29R|uc021uop.1,p.G133R|NM_001199814,p.G133R|ENST00000457674,p.G133R	protein_coding, processed_transcript	uc021uop.1	nonsynonymous SNV	exon6	c.G397A	p.G133R	KDILSVHKEASIGQELSKFNPCGKV	KDILSVHKEASIRQELSKFNPCGKV	1.0	1.0	unscreened	-	3466_19:9801782-9801782 C>T_KDILSVHKEASIRQELSKFNPCGKV
20:2845902-2845902 C>A	1.0	3466	MELANOMA	-	-	-	-	VPS16	uc002whf.3,p.L561I|uc002whg.3,p.L391I|ENST00000380445,p.L705I|uc002whe.3,p.L705I|NM_080413,p.L561I|NM_022575,p.L705I|ENST00000380469,p.L561I|ENST00000380443,p.L391I	protein_coding, processed_transcript	uc002whg.3	nonsynonymous SNV	exon9	c.C1171A	p.L391I	DLSLHDTVTTLILGGHNKRAEQLAR	DLSLHDTVTTLIIGGHNKRAEQLAR	8.0	6.0	-	-	3466_20:2845902-2845902 C>A_DLSLHDTVTTLIIGGHNKRAEQLAR
10:99968209-99968209 C>T	1.0	3466	MELANOMA	-	-	-	-	R3HCC1L	ENST00000298999,p.S113F|uc009xvx.3,p.S113F|NM_001256619,p.S113F|uc001koy.4,p.S113F|NM_138469,p.S113F|uc001kox.4,p.S113F|ENST00000370584,p.S113F|NM_014472,p.S113F|uc001kow.4,p.S113F|NM_001256620,p.S113F	protein_coding	uc009xvx.3	nonsynonymous SNV	exon4	c.C338T	p.S113F	TNRVCSKRGTTESKEVLSQGQQQGA	TNRVCSKRGTTEFKEVLSQGQQQGA	6.0	4.0	-	-	3466_10:99968209-99968209 C>T_TNRVCSKRGTTEFKEVLSQGQQQGA
4:141888805-141888805 C>T	0.0	3466	MELANOMA	-	-	ID=COSM175565,COSM175566;OCCURENCE=2(large_intestine),1(endometrium)	-	RNF150	ENST00000515673,p.R236Q|uc003iio.1,p.R236Q|ENST00000420921,p.R95Q|uc003iip.1,p.R236Q|NM_020724,p.R236Q|ENST00000506101,p.R67Q|ENST00000507500,p.R236Q|ENST00000379512,p.R95Q	protein_coding, processed_transcript	uc003iip.1	nonsynonymous SNV	exon2	c.G707A	p.R236Q	LAWLVFYYIQRFRYANARDRNQRRL	LAWLVFYYIQRFQYANARDRNQRRL	6.0	4.0	unscreened	-	3466_4:141888805-141888805 C>T_LAWLVFYYIQRFQYANARDRNQRRL
4:48027306-48027306 A>G	1.0	3466	MELANOMA	-	-	-	-	NIPAL1	uc003gxw.3,p.K90E|ENST00000511123,p.K55E|ENST00000295461,p.K90E|NM_207330,p.K90E|ENST00000511852,p.K90E	protein_coding, processed_transcript, nonsense_mediated_decay	uc003gxw.3	nonsynonymous SNV	exon2	c.A268G	p.K90E	SSIFIGSSFILKKKGLLQLASKGFT	SSIFIGSSFILKEKGLLQLASKGFT	3.0	9.0	unscreened	-	3466_4:48027306-48027306 A>G_SSIFIGSSFILKEKGLLQLASKGFT
1:204226488-204226488 G>A	0.0	3466	MELANOMA	-	-	-	-	PLEKHA6	ENST00000414478,p.S526F|NM_014935,p.S506F|ENST00000272203,p.S506F|uc001hau.4,p.S506F	protein_coding, processed_transcript	uc001hau.4	nonsynonymous SNV	exon9	c.C1517T	p.S506F	DPAAYVMRRSISSPKVPPYPEVFRD	DPAAYVMRRSISFPKVPPYPEVFRD	1.0	2.0	unscreened	-	3466_1:204226488-204226488 G>A_DPAAYVMRRSISFPKVPPYPEVFRD
1:204226488-204226488 G>A	0.0	3466	MELANOMA	-	-	-	-	PLEKHA6	uc009xax.1,p.S130F|uc009xaz.1,p.S130F|uc009xbb.1,p.S130F|uc009xba.1,p.S130F|uc009xaw.1,p.S130F|uc009xbc.1,p.S130F	protein_coding, processed_transcript	uc009xbc.1	nonsynonymous SNV	exon1	c.C389T	p.S130F	DPAAYVMRRSISSPKYDYLGDRRPV	DPAAYVMRRSISFPKYDYLGDRRPV	1.0	2.0	unscreened	-	3466_1:204226488-204226488 G>A_DPAAYVMRRSISFPKYDYLGDRRPV
10:18827191-18827191 A>G	0.0	3466	MELANOMA	-	-	-	-	CACNB2	uc001ipt.2,p.K424R|NM_201570,p.K414R|uc001ipy.2,p.K408R|NM_201596,p.K462R|ENST00000377331,p.K410R|NM_201593,p.K424R|uc001ipw.2,p.K369R|ENST00000377329,p.K408R|ENST00000396576,p.K407R|uc001iqa.2,p.K414R|ENST00000377315,p.K414R|uc001ipx.2,p.K407R|NM_000724,p.K407R|uc009xjz.1,p.K212R|ENST00000282343,p.K434R|uc001ipz.2,p.K384R|uc001ipv.3,p.K410R|ENST00000352115,p.K438R|NM_201572,p.K410R|NM_201571,p.K434R|uc001ips.2,p.K438R|uc009xka.2,p.K396R|NM_201590,p.K408R|NM_001167945,p.K396R|uc010qco.1,p.K376R|ENST00000377328,p.K212R|uc001ipu.3,p.K434R|ENST00000324631,p.K462R|NM_201597,p.K438R|uc001ipr.2,p.K462R|ENST00000377319,p.K369R	retained_intron, protein_coding, processed_transcript	uc010qco.1	nonsynonymous SNV	exon12	c.A1127G	p.K376R	CEHLADYLEAYWKATHPPSSSLPNP	CEHLADYLEAYWRATHPPSSSLPNP	1.0	8.0	unscreened	-	3466_10:18827191-18827191 A>G_CEHLADYLEAYWRATHPPSSSLPNP
6:148848652-148848652 C>T	1.0	3466	MELANOMA	-	-	-	-	SASH1	NM_015278,p.L450F|uc003qme.1,p.L450F|ENST00000367467,p.L450F|uc011eeb.1,p.L211F	protein_coding, processed_transcript	uc011eeb.1	nonsynonymous SNV	exon5	c.C631T	p.L211F	EVIKSPTASRISLGKKVKSVKETMR	EVIKSPTASRISFGKKVKSVKETMR	8.0	9.0	-	-	3466_6:148848652-148848652 C>T_EVIKSPTASRISFGKKVKSVKETMR
21:15954564-15954564 G>A	0.0	3466	MELANOMA	-	-	-	-	SAMSN1	uc002yjv.1,p.L52F|NM_001256370,p.L52F|ENST00000285670,p.L52F	protein_coding, processed_transcript	uc002yjv.1	nonsynonymous SNV	exon2	c.C154T	p.L52F	WKLFPENPLWTCLDFQIAQVGPWDH	WKLFPENPLWTCFDFQIAQVGPWDH	5.0	3.0	unscreened	Snp within 36 nucleotides, 21:15954593-15954593 G>A, residue 3 P>L PR	3466_21:15954564-15954564 G>A_WKLFPENPLWTCFDFQIAQVGPWDH
4:94137964-94137964 C>T	0.0	3466	MELANOMA	-	-	-	-	GRID2	ENST00000510992,p.P194S|uc011cdu.2,p.P194S|ENST00000282020,p.P289S|NM_001510,p.P289S|uc010ikx.3,p.P289S|NM_001286838,p.P194S|uc011cdt.2,p.P289S	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cdu.2	nonsynonymous SNV	exon5	c.C580T	p.P194S	SIGRLTIIRQTFPVPQNISQRCFRG	SIGRLTIIRQTFSVPQNISQRCFRG	1.0	4.0	unscreened	-	3466_4:94137964-94137964 C>T_SIGRLTIIRQTFSVPQNISQRCFRG
5:140953316-140953316 G>A	1.0	3466	MELANOMA	-	-	-	-	DIAPH1	uc003llc.4,p.P692S|ENST00000520569,p.P647S|ENST00000389057,p.P692S|uc021yep.1,p.P701S|ENST00000518047,p.P692S|ENST00000253811,p.P701S|uc003llb.4,p.P701S|ENST00000398562,p.P680S|uc021yeq.1,p.P692S|uc010jgc.1,p.P140S|NM_005219,p.P701S|ENST00000389054,p.P701S|ENST00000521457,p.P692S|ENST00000398566,p.P692S|ENST00000398557,p.P701S|NM_001079812,p.P692S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021yeq.1	nonsynonymous SNV	exon15	c.C2074T	p.P692S	PPPPPLPGSAGIPPPPPPLPGEAGM	PPPPPLPGSAGISPPPPPLPGEAGM	9.0	9.0	-	-	3466_5:140953316-140953316 G>A_PPPPPLPGSAGISPPPPPLPGEAGM
2:40401860-40401860 C>T	0.0	3466	MELANOMA	-	-	-	-	SLC8A1	uc002rsb.2,p.G644E|ENST00000408028,p.G644E|NM_001252624,p.G644E	protein_coding, nonsense_mediated_decay	uc002rsb.2	nonsynonymous SNV	exon4	c.G1931A	p.G644E	IRRGMKGGFTITGKYLFGQPVFRKV	IRRGMKGGFTITEKYLFGQPVFRKV	6.0	7.0	unscreened	-	3466_2:40401860-40401860 C>T_IRRGMKGGFTITEKYLFGQPVFRKV
18:77895203-77895203 C>A	1.0	3466	MELANOMA	-	-	-	-	ADNP2	uc002lnw.3,p.P636Q|ENST00000262198,p.P636Q|NM_014913,p.P636Q	protein_coding	uc002lnw.3	nonsynonymous SNV	exon4	c.C1907A	p.P636Q	LPVPPGGLATVAPPQMPIQLLPSGA	LPVPPGGLATVAQPQMPIQLLPSGA	8.0	5.0	-	-	3466_18:77895203-77895203 C>A_LPVPPGGLATVAQPQMPIQLLPSGA
2:137928311-137928311 G>A	0.0	3466	MELANOMA	-	-	-	-	THSD7B	ENST00000413152,p.G478E|ENST00000409968,p.G509E|uc002tvb.3,p.G368E|ENST00000272643,p.G509E|uc002tva.1,p.G478E	retained_intron, protein_coding, processed_transcript	uc002tvb.3	nonsynonymous SNV	exon5	c.G1103A	p.G368E	IHENCHDPQGKKGFRTRQRHVLMES	IHENCHDPQGKKEFRTRQRHVLMES	1.0	1.0	unscreened	-	3466_2:137928311-137928311 G>A_IHENCHDPQGKKEFRTRQRHVLMES
12:18658353-18658353 G>A	0.0	3466	MELANOMA	-	-	-	-	PIK3C2G	uc010sic.2,p.G872E|uc010sib.2,p.G1094E|NM_001288772,p.G1094E|ENST00000266497,p.G1053E|NM_004570,p.G1053E|ENST00000433979,p.G1053E|ENST00000538779,p.G1094E|uc001rdt.3,p.G1053E|NM_001288774,p.G872E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010sic.2	nonsynonymous SNV	exon23	c.G2615A	p.G872E	LTKSGHMFHIDFGKFLGHAQTFGGI	LTKSGHMFHIDFEKFLGHAQTFGGI	1.0	4.0	unscreened	-	3466_12:18658353-18658353 G>A_LTKSGHMFHIDFEKFLGHAQTFGGI
8:145660239-145660239 G>A	1.0	3466	MELANOMA	-	-	-	-	TONSL	ENST00000409379,p.P1014S|uc011llg.2,p.P1014S|NM_013432,p.P1014S	retained_intron, protein_coding	uc011llg.2	nonsynonymous SNV	exon20	c.C3040T	p.P1014S	EVLAEVTSWDLPPLTDRYRRACQSL	EVLAEVTSWDLPSLTDRYRRACQSL	3.0	8.0	-	-	3466_8:145660239-145660239 G>A_EVLAEVTSWDLPSLTDRYRRACQSL
19:51509964-51509964 G>A	0.0	3466	MELANOMA	-	-	-	-	KLK9	ENST00000544410,p.A20V	 nonsense_mediated_decay,nonsense_mediated_decay,protein_coding	ENST00000544410	nonsynonymous SNV	exon2	c.C59T	p.A20V	ALLSLLAGICGSALESTTSGNGRVR	ALLSLLAGICGSVLESTTSGNGRVR	1.0	2.0	unscreened	-	3466_19:51509964-51509964 G>A_ALLSLLAGICGSVLESTTSGNGRVR
10:50340029-50340029 C>T	0.0	3466	MELANOMA	-	-	ID=COSM229153;OCCURENCE=1(skin)	-	FAM170B	NM_001164484,p.D161N|ENST00000311787,p.D161N|uc001jhj.3,p.D161N	protein_coding	uc001jhj.3	nonsynonymous SNV	exon2	c.G481A	p.D161N	WNGSSFEMASNTDMRWDLEACKSNC	WNGSSFEMASNTNMRWDLEACKSNC	1.0	4.0	unscreened	-	3466_10:50340029-50340029 C>T_WNGSSFEMASNTNMRWDLEACKSNC
16:9858521-9858521 C>T	0.0	3466	MELANOMA	-	-	ID=COSM3818766;OCCURENCE=1(breast)	1	GRIN2A	uc002czr.4,p.M960I|ENST00000396573,p.M960I|NM_001134408,p.M960I|ENST00000396575,p.M960I|NM_000833,p.M960I|uc002czo.4,p.M960I|ENST00000535259,p.M803I|uc010uyn.2,p.M803I|ENST00000404927,p.M960I|ENST00000330684,p.M960I|ENST00000562109,p.M960I|NM_001134407,p.M960I|uc010uym.2,p.M960I	retained_intron, protein_coding, processed_transcript	uc010uyn.2	nonsynonymous SNV	exon12	c.G2409A	p.M803I	SFQGKESIFGDNMNELQTFVANRQK	SFQGKESIFGDNINELQTFVANRQK	1.0	8.0	unscreened	-	3466_16:9858521-9858521 C>T_SFQGKESIFGDNINELQTFVANRQK
11:5290698-5290698 G>A	0.0	3466	MELANOMA	-	-	-	-	HBE1	uc001mal.1,p.P101S|ENST00000380237,p.P101S|ENST00000292896,p.P101S|NM_005330,p.P101S|uc001mam.1,p.P101S	protein_coding	uc001mam.1	nonsynonymous SNV	exon4	c.C301T	p.P101S	LSELHCDKLHVDPENFKLLGNVMVI	LSELHCDKLHVDSENFKLLGNVMVI	1.0	2.0	unscreened	-	3466_11:5290698-5290698 G>A_LSELHCDKLHVDSENFKLLGNVMVI
10:46965717-46965717 C>T	0.0	3466	MELANOMA	-	-	-	-	SYT15	uc001jeb.3,p.E152K|ENST00000374323,p.E327K|NM_181519,p.E274K|uc001jdz.2,p.E274K|ENST00000374321,p.E274K|NM_031912,p.E274K|ENST00000374328,p.E64K|ENST00000374325,p.E274K|ENST00000503753,p.E274K|uc001jea.3,p.E274K	protein_coding, processed_transcript	uc001jeb.3	nonsynonymous SNV	exon4	c.G454A	p.E152K	RVIWRDLEAESLEPPSEFGDLQFCL	RVIWRDLEAESLKPPSEFGDLQFCL	1.0	1.0	unscreened	-	3466_10:46965717-46965717 C>T_RVIWRDLEAESLKPPSEFGDLQFCL
8:145577100-145577100 G>A	1.0	3466	MELANOMA	-	-	-	-	TMEM249	uc003zby.4,p.R206C|NM_001280561,p.R206C|ENST00000398633,p.R206C|uc011llb.2,p.R206C|NM_001252402,p.R206C	retained_intron, protein_coding	uc011llb.2	nonsynonymous SNV	exon5	c.C616T	p.R206C	FDYLATSYRHVVRHWPPPGAGTVMG	FDYLATSYRHVVCHWPPPGAGTVMG	2.0	8.0	unscreened	-	3466_8:145577100-145577100 G>A_FDYLATSYRHVVCHWPPPGAGTVMG
4:155505835-155505835 C>T	0.0	3466	MELANOMA	-	-	-	-	FGA	uc003iod.1,p.G681E|ENST00000302053,p.G681E|NM_000508,p.G681E	protein_coding	uc003iod.1	nonsynonymous SNV	exon6	c.G2042A	p.G681E	LGGWLLIQQRMDGSLNFNRTWQDYK	LGGWLLIQQRMDESLNFNRTWQDYK	1.0	4.0	unscreened	-	3466_4:155505835-155505835 C>T_LGGWLLIQQRMDESLNFNRTWQDYK
3:195954574-195954574 C>T	0.0	3466	MELANOMA	-	-	-	-	SLC51A	ENST00000296327,p.R110C|NM_152672,p.R110C|uc003fwd.3,p.R110C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003fwd.3	nonsynonymous SNV	exon4	c.C328T	p.R110C	VSVLCCFGLWIPRSLVLVEMTITSF	VSVLCCFGLWIPCSLVLVEMTITSF	1.0	6.0	unscreened	-	3466_3:195954574-195954574 C>T_VSVLCCFGLWIPCSLVLVEMTITSF
10:61831113-61831113 C>T	0.0	3466	MELANOMA	-	-	-	-	ANK3	uc001jky.3,p.E3176K|NM_020987,p.E3176K|ENST00000280772,p.E3176K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jky.3	nonsynonymous SNV	exon37	c.G9526A	p.E3176K	KSPLTPETPSSEEVSYEFTSKTPDS	KSPLTPETPSSEKVSYEFTSKTPDS	5.0	5.0	-	-	3466_10:61831113-61831113 C>T_KSPLTPETPSSEKVSYEFTSKTPDS
10:63964714-63964714 G>A	0.0	3466	MELANOMA	-	-	-	-	RTKN2	ENST00000373789,p.P363L|NM_145307,p.P363L|ENST00000395265,p.P384L|uc001jlv.3,p.P17L|ENST00000315289,p.P165L|uc001jlw.3,p.P363L|uc009xpf.1,p.P165L	protein_coding	uc009xpf.1	nonsynonymous SNV	exon6	c.C494T	p.P165L	AKKRIHNFSVINPVPGQAITQIFAV	AKKRIHNFSVINLVPGQAITQIFAV	4.0	5.0	unscreened	-	3466_10:63964714-63964714 G>A_AKKRIHNFSVINLVPGQAITQIFAV
19:45563845-45563845 C>T	1.0	3466	MELANOMA	-	-	ID=COSM247283;OCCURENCE=1(endometrium),1(prostate)	-	CLASRP	uc010xxh.2,p.R213W|uc002pam.3,p.R275W|ENST00000391952,p.R275W|NM_007056,p.R275W|ENST00000221455,p.R275W|ENST00000391953,p.R213W|ENST00000544944,p.R275W|NM_001278439,p.R213W|uc002pak.3,p.R275W	retained_intron, protein_coding, nonsense_mediated_decay	uc010xxh.2	nonsynonymous SNV	exon9	c.C637T	p.R213W	SGRRSRRQRREFREKRLRGRKISPP	SGRRSRRQRREFWEKRLRGRKISPP	9.0	1.0	-	-	3466_19:45563845-45563845 C>T_SGRRSRRQRREFWEKRLRGRKISPP
2:27375701-27375701 C>T	0.0	3466	MELANOMA	-	-	-	-	TCF23	uc010ylg.2,p.T204I|ENST00000296096,p.T204I|NM_175769,p.T204I	protein_coding, processed_transcript	uc010ylg.2	nonsynonymous SNV	exon3	c.C611T	p.T204I	SQVPGEADALLSTTPLSPALGDK	SQVPGEADALLSITPLSPALGDK	1.0	3.0	unscreened	-	3466_2:27375701-27375701 C>T_SQVPGEADALLSITPLSPALGDK
5:118969918-118969918 G>A	0.0	3466	MELANOMA	-	-	-	-	FAM170A	uc003ksl.2,p.E159K|ENST00000509264,p.E159K	protein_coding, nonsense_mediated_decay	uc003ksl.2	nonsynonymous SNV	exon3	c.G475A	p.E159K	ETLESLEKQPRMEEVTLSEVVRQLR	ETLESLEKQPRMKEVTLSEVVRQLR	1.0	9.0	unscreened	-	3466_5:118969918-118969918 G>A_ETLESLEKQPRMKEVTLSEVVRQLR
2:43937371-43937371 A>G	0.0	3466	MELANOMA	-	-	-	-	PLEKHH2	uc010yny.2,p.K706E|ENST00000282406,p.K706E|uc002rtf.3,p.K705E|NM_172069,p.K706E|uc002rte.3,p.K706E	retained_intron, protein_coding, nonsense_mediated_decay	uc010yny.2	nonsynonymous SNV	exon13	c.A2116G	p.K706E	SSSDNGKNEPLEKSGYLLKMSGKVK	SSSDNGKNEPLEESGYLLKMSGKVK	5.0	3.0	unscreened	-	3466_2:43937371-43937371 A>G_SSSDNGKNEPLEESGYLLKMSGKVK
7:72925114-72925114 T>C	1.0	3466	MELANOMA	-	-	-	-	BAZ1B	ENST00000339594,p.Q59R|NM_032408,p.Q59R|uc003tyc.3,p.Q59R|ENST00000404251,p.Q59R	retained_intron, protein_coding	uc003tyc.3	nonsynonymous SNV	exon2	c.A176G	p.Q59R	ERIWTCKSTGSSQLTHKEAWEEEQE	ERIWTCKSTGSSRLTHKEAWEEEQE	10.0	1.0	unscreened	-	3466_7:72925114-72925114 T>C_ERIWTCKSTGSSRLTHKEAWEEEQE
7:100491202-100491202 C>G	0.0	3466	MELANOMA	-	-	-	-	ACHE	ENST00000428317,p.V218L|uc003uxg.3,p.V218L|ENST00000241069,p.V218L|uc003uxi.3,p.V218L|NM_015831,p.V218L|ENST00000412389,p.V218L|ENST00000454485,p.V218L|ENST00000440755,p.V218L|uc003uxd.3,p.V218L|uc003uxh.3,p.V218L|uc003uxf.3,p.V218L|ENST00000430554,p.V218L|ENST00000426415,p.V218L|ENST00000302913,p.V218L|uc003uxj.1,p.V337L|NM_000665,p.V218L|ENST00000411582,p.V218L|uc003uxe.3,p.V218L|NM_001282449,p.V218L|ENST00000419336,p.V218L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxj.1	nonsynonymous SNV	exon2	c.G1009C	p.V337L	DQRLALQWVQENVAAFGGDPTSVTL	DQRLALQWVQENLAAFGGDPTSVTL	2.0	9.0	unscreened	-	3466_7:100491202-100491202 C>G_DQRLALQWVQENLAAFGGDPTSVTL
9:93624558-93624558 C>T	0.0	3466	MELANOMA	-	-	-	1	SYK	ENST00000375754,p.R217C|NM_001174167,p.R217C|uc004arb.3,p.R217C|NM_001174168,p.R217C|ENST00000375747,p.R217C|NM_003177,p.R217C|uc004ara.3,p.R217C|NM_001135052,p.R217C|ENST00000375751,p.R217C|uc004arc.3,p.R217C|uc004aqz.3,p.R217C|ENST00000375746,p.R217C	protein_coding, processed_transcript	uc004arc.3	nonsynonymous SNV	exon4	c.C649T	p.R217C	LCLLHEGKVLHYRIDKDKTGKLSIP	LCLLHEGKVLHYCIDKDKTGKLSIP	6.0	9.0	unscreened	-	3466_9:93624558-93624558 C>T_LCLLHEGKVLHYCIDKDKTGKLSIP
3:113655236-113655236 C>T	0.0	3466	MELANOMA	-	-	-	-	GRAMD1C	uc003ear.3,p.S360F|uc003eaq.4,p.S527F|NM_001172105,p.S322F|ENST00000462838,p.S322F|ENST00000472026,p.S360F|uc003eat.3,p.S186F|ENST00000358160,p.S527F|ENST00000440446,p.S322F|uc003eas.3,p.S322F|NM_017577,p.S527F|ENST00000452134,p.S256F|uc011bil.3,p.S256F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bil.3	nonsynonymous SNV	exon15	c.C767T	p.S256F	TFNRTAETVPKLSSQHSSGDVGLGA	TFNRTAETVPKLFSQHSSGDVGLGA	3.0	6.0	unscreened	-	3466_3:113655236-113655236 C>T_TFNRTAETVPKLFSQHSSGDVGLGA
14:33293371-33293371 C>T	0.0	3466	MELANOMA	-	-	-	-	AKAP6	uc001wrq.3,p.H2118Y|NM_004274,p.H2118Y|ENST00000280979,p.H2118Y	retained_intron, protein_coding, processed_transcript	uc001wrq.3	nonsynonymous SNV	exon13	c.C6352T	p.H2118Y	KGDFYSYLSLSSHDSDCGEVTNYIE	KGDFYSYLSLSSYDSDCGEVTNYIE	6.0	4.0	unscreened	-	3466_14:33293371-33293371 C>T_KGDFYSYLSLSSYDSDCGEVTNYIE
19:15052708-15052708 G>A	0.0	3466	MELANOMA	-	-	-	-	OR7C2	NM_012377,p.M136I|ENST00000248072,p.M136I|uc010xoc.2,p.M136I	protein_coding	uc010xoc.2	nonsynonymous SNV	exon1	c.G408A	p.M136I	VAICYPLHYTVIMNPRLCGLLVLGS	VAICYPLHYTVIINPRLCGLLVLGS	1.0	8.0	unscreened	-	3466_19:15052708-15052708 G>A_VAICYPLHYTVIINPRLCGLLVLGS
8:22973102-22973102 C>T	0.0	3466	MELANOMA	-	-	-	-	TNFRSF10C	uc003xcy.3,p.S121F|NM_003841,p.S121F|ENST00000356864,p.S121F|ENST00000540813,p.S19F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xcy.3	nonsynonymous SNV	exon4	c.C362T	p.S121F	CQCKEGTFRNENSPEMCRKCSRCPS	CQCKEGTFRNENFPEMCRKCSRCPS	1.0	7.0	unscreened	-	3466_8:22973102-22973102 C>T_CQCKEGTFRNENFPEMCRKCSRCPS
2:45171865-45171865 C>T	0.0	3466	MELANOMA	-	-	-	-	SIX3	ENST00000260653,p.S322L|NM_005413,p.S322L|uc002run.2,p.S322L	protein_coding	uc002run.2	nonsynonymous SNV	exon2	c.C965T	p.S322L	LTERADTGTSILSVTSSDSECDV	LTERADTGTSILLVTSSDSECDV	1.0	2.0	unscreened	-	3466_2:45171865-45171865 C>T_LTERADTGTSILLVTSSDSECDV
12:21926317-21926317 C>A	0.0	3466	MELANOMA	-	-	-	-	KCNJ8	uc001rff.4,p.M78I|NM_004982,p.M78I|ENST00000537950,p.M78I|ENST00000240662,p.M78I	protein_coding	uc001rff.4	nonsynonymous SNV	exon2	c.G234T	p.M78I	DLKWRHTLVIFTMSFLCSWLLFAIM	DLKWRHTLVIFTISFLCSWLLFAIM	5.0	5.0	unscreened	-	3466_12:21926317-21926317 C>A_DLKWRHTLVIFTISFLCSWLLFAIM
7:111428797-111428797 C>T	0.0	3466	MELANOMA	-	-	-	-	DOCK4	NM_014705,p.A1108T|uc003vfy.3,p.A1144T|ENST00000437633,p.A1108T|uc003vfw.3,p.A549T|ENST00000428084,p.A1108T|uc003vfx.3,p.A1108T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vfy.3	nonsynonymous SNV	exon33	c.G3430A	p.A1144T	EQRRSGNFKQVEAKLIDKLDSLMSE	EQRRSGNFKQVETKLIDKLDSLMSE	7.0	1.0	unscreened	-	3466_7:111428797-111428797 C>T_EQRRSGNFKQVETKLIDKLDSLMSE
18:32335966-32335966 G>A	0.0	3466	MELANOMA	-	-	-	-	DTNA	uc010dmm.3,p.G9E|uc010dmj.3,p.G9E|uc002kyb.4,p.G9E|uc002kxx.2,p.G9E|ENST00000590598,p.G9E|NM_001391,p.G9E|uc010dml.3,p.G9E|uc002kxv.4,p.G9E|ENST00000598334,p.G9E|NM_001198939,p.G9E|ENST00000590412,p.G9E|ENST00000269191,p.G9E|uc010xbx.2,p.G9E|NM_001198940,p.G9E|ENST00000588125,p.G9E|ENST00000348997,p.G9E|NM_032978,p.G9E|uc010dmn.1,p.G9E|ENST00000399113,p.G9E|ENST00000269190,p.G9E|ENST00000598142,p.G9E|NM_032975,p.G9E|NM_001128175,p.G9E|ENST00000315456,p.G9E|NM_001198941,p.G9E|ENST00000554864,p.G9E|ENST00000598774,p.G9E|ENST00000597599,p.G9E|NM_001198945,p.G9E|uc002kxu.2,p.G9E|uc002kxz.2,p.G9E|uc002kxy.2,p.G9E|NM_001198938,p.G9E|ENST00000596745,p.G9E|NM_001392,p.G9E|NM_001390,p.G9E|ENST00000595022,p.G9E|ENST00000283365,p.G9E|ENST00000444659,p.G9E|ENST00000399121,p.G9E|NM_032979,p.G9E|uc002kxw.2,p.G9E	protein_coding, processed_transcript	uc010xbx.2	nonsynonymous SNV	exon3	c.G26A	p.G9E	MIEDSGKRGNTMAERRQLFAE	MIEDSGKRENTMAERRQLFAE	4.0	3.0	unscreened	-	3466_18:32335966-32335966 G>A_MIEDSGKRENTMAERRQLFAE
18:6959439-6959439 G>A	1.0	3466	MELANOMA	-	-	-	-	LAMA1	uc010wzj.2,p.P2036L|uc002knl.3,p.P13L|NM_005559,p.P2560L|uc002knm.3,p.P2560L|ENST00000389658,p.P2560L	retained_intron, protein_coding	uc010wzj.2	nonsynonymous SNV	exon53	c.C6107T	p.P2036L	MLIGGNIEVHVNPGDGTGLRKALLH	MLIGGNIEVHVNLGDGTGLRKALLH	3.0	3.0	unscreened	-	3466_18:6959439-6959439 G>A_MLIGGNIEVHVNLGDGTGLRKALLH
2:26684650-26684650 G>A	0.0	3466	MELANOMA	-	-	-	-	OTOF	uc002rhh.3,p.S1049F|NM_004802,p.S1049F|uc002rhj.3,p.S1049F|NM_001287489,p.S1816F|ENST00000338581,p.S1049F|ENST00000339598,p.S1049F|NM_194322,p.S1126F|ENST00000272371,p.S1816F|NM_194323,p.S1049F|ENST00000402415,p.S1126F|uc010yla.2,p.S546F|ENST00000403946,p.S1816F|uc002rhi.3,p.S1126F|NM_194248,p.S1816F|uc002rhk.3,p.S1816F	retained_intron, protein_coding	uc010yla.2	nonsynonymous SNV	exon16	c.C1637T	p.S546F	EKIVISKKESMFSWDETEYKIPARL	EKIVISKKESMFFWDETEYKIPARL	1.0	4.0	unscreened	-	3466_2:26684650-26684650 G>A_EKIVISKKESMFFWDETEYKIPARL
8:77768516-77768516 G>A	1.0	3466	MELANOMA	-	-	-	-	ZFHX4	ENST00000050961,p.G3075E	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000050961	nonsynonymous SNV	exon10	c.G9224A	p.G3075E	LLPGMNGPSSLPGFPQNSNIASGML	LLPGMNGPSSLPEFPQNSNIASGML	4.0	1.0	unscreened	-	3466_8:77768516-77768516 G>A_LLPGMNGPSSLPEFPQNSNIASGML
1:196876120-196876120 C>T	0.0	3466	MELANOMA	-	-	-	-	CFHR4	ENST00000367416,p.S189F|NM_001201550,p.S190F|NM_001201551,p.S189F|uc009wyy.3,p.S189F|uc001gtp.3,p.S190F	protein_coding	uc009wyy.3	nonsynonymous SNV	exon4	c.C566T	p.S189F	DGYESSYGNTTDSIVCGEDGWSHLP	DGYESSYGNTTDFIVCGEDGWSHLP	1.0	1.0	unscreened	-	3466_1:196876120-196876120 C>T_DGYESSYGNTTDFIVCGEDGWSHLP
X:117043692-117043692 A>G	0.0	3466	MELANOMA	-	-	-	-	KLHL13	uc004eqk.3,p.L262S|NM_001168299,p.L316S|NM_001168301,p.L297S|ENST00000371878,p.L262S|ENST00000540167,p.L297S|ENST00000539496,p.L316S|uc004eql.3,p.L313S|uc011mto.2,p.L307S|ENST00000447671,p.L262S|uc022cde.1,p.L297S|ENST00000371882,p.L262S|NM_033495,p.L313S|ENST00000469946,p.L262S|NM_001168302,p.L297S|ENST00000545703,p.L271S|ENST00000262820,p.L313S|uc004eqm.3,p.L271S|uc011mtn.2,p.L153S|uc011mtq.2,p.L297S|uc011mtp.2,p.L316S|NM_001168300,p.L307S|NM_001168303,p.L271S|ENST00000541812,p.L297S|ENST00000371876,p.L262S	protein_coding	uc022cde.1	nonsynonymous SNV	exon6	c.T890C	p.L297S	FMRTDNTCVNLLLEASNYQMMPYMQ	FMRTDNTCVNLLSEASNYQMMPYMQ	1.0	9.0	unscreened	-	3466_X:117043692-117043692 A>G_FMRTDNTCVNLLSEASNYQMMPYMQ
16:23197875-23197875 C>T	0.0	3466	MELANOMA	-	-	-	-	SCNN1G	ENST00000300061,p.P95S|uc002dlm.1,p.P95S|NM_001039,p.P95S	protein_coding	uc002dlm.1	nonsynonymous SNV	exon2	c.C283T	p.P95S	VSIKVHFRKLDFPAVTICNINPYKY	VSIKVHFRKLDFSAVTICNINPYKY	1.0	3.0	unscreened	-	3466_16:23197875-23197875 C>T_VSIKVHFRKLDFSAVTICNINPYKY
18:28584276-28584276 G>A	0.0	3466	MELANOMA	-	-	-	-	DSC3	ENST00000434452,p.P649S|uc002kwj.4,p.P649S|NM_024423,p.P649S|ENST00000360428,p.P649S|uc002kwi.4,p.P649S|NM_001941,p.P649S	protein_coding	uc002kwj.4	nonsynonymous SNV	exon13	c.C1945T	p.P649S	YQKNAGFQEYTIPITVKDRAGQAAT	YQKNAGFQEYTISITVKDRAGQAAT	1.0	2.0	unscreened	-	3466_18:28584276-28584276 G>A_YQKNAGFQEYTISITVKDRAGQAAT
1:247587838-247587838 C>T	0.0	3466	MELANOMA	-	-	-	-	NLRP3	NM_001127462,p.P365S|uc001icu.3,p.P365S|NM_001079821,p.P365S|ENST00000366497,p.P365S|ENST00000348069,p.P365S|uc001icw.3,p.P365S|ENST00000391828,p.P365S|uc001ics.3,p.P365S|ENST00000366496,p.P365S|ENST00000336119,p.P365S|NM_001127461,p.P365S|uc010pyw.2,p.P363S|uc001ict.1,p.P363S|uc001icr.3,p.P365S|NM_004895,p.P365S|ENST00000391827,p.P365S|NM_183395,p.P365S|uc001icv.3,p.P365S|NM_001243133,p.P363S	protein_coding, processed_transcript	uc010pyw.2	nonsynonymous SNV	exon3	c.C1087T	p.P363S	VALEKLQHLLDHPRHVEILGFSEAK	VALEKLQHLLDHSRHVEILGFSEAK	4.0	8.0	unscreened	-	3466_1:247587838-247587838 C>T_VALEKLQHLLDHSRHVEILGFSEAK
12:52096657-52096657 C>T	1.0	3466	MELANOMA	-	-	ID=COSM940536,COSM940535;OCCURENCE=1(endometrium)	-	SCN8A	ENST00000551216,p.R163C|uc001ryy.2,p.R230C|ENST00000355133,p.R365C|uc001ryx.1,p.R230C|ENST00000354534,p.R365C|uc001ryz.1,p.R230C|uc001ryw.4,p.R365C|NM_014191,p.R365C|ENST00000545061,p.R365C|uc010snl.3,p.R365C|ENST00000550891,p.R365C|NM_001177984,p.R365C	protein_coding, processed_transcript	uc010snl.3	nonsynonymous SNV	exon9	c.C1093T	p.R365C	FDTFSWAFLALFRLMTQDYWENLYQ	FDTFSWAFLALFCLMTQDYWENLYQ	4.0	9.0	unscreened	-	3466_12:52096657-52096657 C>T_FDTFSWAFLALFCLMTQDYWENLYQ
9:139925737-139925737 G>A	0.0	3466	MELANOMA	-	-	-	-	FUT7	uc004ckq.2,p.P152S|NM_004479,p.P152S|ENST00000314412,p.P152S	protein_coding	uc004ckq.2	nonsynonymous SNV	exon2	c.C454T	p.P152S	VLSYRRDSDIFVPYGRLEPHWGPSP	VLSYRRDSDIFVSYGRLEPHWGPSP	1.0	9.0	unscreened	-	3466_9:139925737-139925737 G>A_VLSYRRDSDIFVSYGRLEPHWGPSP
16:88722107-88722107 G>A	1.0	3466	MELANOMA	-	-	-	-	MVD	uc002flg.1,p.T212I|ENST00000569177,p.T246I|NM_002461,p.T212I|uc002flf.1,p.T81I|ENST00000301012,p.T212I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002flg.1	nonsynonymous SNV	exon6	c.C635T	p.T212I	LVVSAEKKLTGSTVGMRASVETSPL	LVVSAEKKLTGSIVGMRASVETSPL	4.0	2.0	-	-	3466_16:88722107-88722107 G>A_LVVSAEKKLTGSIVGMRASVETSPL
7:82580360-82580360 G>A	0.0	3466	MELANOMA	-	-	-	-	PCLO	uc010lec.3,p.P147S|uc003uhx.2,p.P3182S|ENST00000423517,p.P3182S|uc003uhv.2,p.P3182S|ENST00000333891,p.P3182S|NM_033026,p.P3182S|NM_014510,p.P3182S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lec.3	nonsynonymous SNV	exon1	c.C439T	p.P147S	MESLTAETIDSVPTLTTASEVFPEV	MESLTAETIDSVSTLTTASEVFPEV	1.0	1.0	unscreened	-	3466_7:82580360-82580360 G>A_MESLTAETIDSVSTLTTASEVFPEV
2:212248420-212248420 C>T	0.0	3466	MELANOMA	-	-	-	1	ERBB4	uc010zjj.1,p.E1257K|uc010zji.1,p.E1273K|uc002veg.1,p.E1283K|NM_001042599,p.E1267K|ENST00000342788,p.E1283K|ENST00000436443,p.E1267K|ENST00000402597,p.E1273K|NM_005235,p.E1283K|uc002veh.1,p.E1267K	retained_intron, protein_coding, processed_transcript	uc010zjj.1	nonsynonymous SNV	exon27	c.G3769A	p.E1257K	NGRIRPIVAENPEYLSEFSLKPGTV	NGRIRPIVAENPKYLSEFSLKPGTV	1.0	7.0	unscreened	-	3466_2:212248420-212248420 C>T_NGRIRPIVAENPKYLSEFSLKPGTV
2:179531611-179531611 C>T	0.0	3466	MELANOMA	-	-	-	-	TTN	NM_001267550,p.E11939K|uc010zfk.2,p.E113K|uc031rqc.1,p.E11939K|ENST00000589042,p.E11939K	retained_intron, protein_coding	uc031rqc.1	nonsynonymous SNV	exon163	c.G35815A	p.E11939K	EHPPTEEFEVFKEVIPEGETPIVKR	EHPPTEEFEVFKKVIPEGETPIVKR	5.0	1.0	unscreened	-	3466_2:179531611-179531611 C>T_EHPPTEEFEVFKKVIPEGETPIVKR
15:82335655-82335655 G>A	0.0	3466	MELANOMA	-	-	-	-	MEX3B	ENST00000329713,p.S519F|uc002bgq.2,p.S519F|NM_032246,p.S519F	protein_coding	uc002bgq.2	nonsynonymous SNV	exon2	c.C1556T	p.S519F	SSGLRRKGSRDCSVCFESEVIAALV	SSGLRRKGSRDCFVCFESEVIAALV	5.0	2.0	unscreened	-	3466_15:82335655-82335655 G>A_SSGLRRKGSRDCFVCFESEVIAALV
13:111980637-111980637 C>T	0.0	3466	MELANOMA	-	-	-	-	TEX29	ENST00000283547,p.P56S|uc001vsa.3,p.P56S|NM_152324,p.P56S	protein_coding, nonsense_mediated_decay	uc001vsa.3	nonsynonymous SNV	exon3	c.C166T	p.P56S	CFYEGVCYKKAVPIYIHVFSALIVI	CFYEGVCYKKAVSIYIHVFSALIVI	1.0	9.0	unscreened	-	3466_13:111980637-111980637 C>T_CFYEGVCYKKAVSIYIHVFSALIVI
6:42893143-42893143 C>T	0.0	3466	MELANOMA	-	-	-	-	PTCRA	uc010jxz.3,p.A83V|ENST00000304672,p.A190V|NM_001243170,p.A83V|ENST00000441198,p.A165V|uc010jxy.3,p.A165V|NM_138296,p.A190V|uc003osx.3,p.A190V|NM_001243169,p.A165V|ENST00000446507,p.A83V|NM_001243168,p.A205V|uc021yzp.1,p.A205V	protein_coding	uc021yzp.1	nonsynonymous SNV	exon4	c.C614T	p.A205V	PLPSPATTTRLRALGSHRLHPATET	PLPSPATTTRLRVLGSHRLHPATET	2.0	9.0	unscreened	-	3466_6:42893143-42893143 C>T_PLPSPATTTRLRVLGSHRLHPATET
1:247751937-247751937 G>A	0.0	3466	MELANOMA	-	-	-	-	OR2G2	ENST00000320065,p.M92I|NM_001001915,p.M92I|uc010pyy.2,p.M92I	protein_coding	uc010pyy.2	nonsynonymous SNV	exon1	c.G276A	p.M92I	VIPQLLVNLWEPMKTIAYGGCLVHL	VIPQLLVNLWEPIKTIAYGGCLVHL	1.0	8.0	unscreened	-	3466_1:247751937-247751937 G>A_VIPQLLVNLWEPIKTIAYGGCLVHL
2:226447475-226447475 C>T	0.0	3466	MELANOMA	-	-	-	-	NYAP2	NM_020864,p.P448S|uc002voe.2,p.P448S|ENST00000272907,p.P448S|uc002vof.1,p.P218S	protein_coding	uc002vof.1	nonsynonymous SNV	exon1	c.C652T	p.P218S	SPSPVSMGRSLTPLSLKRPPPYDAV	SPSPVSMGRSLTSLSLKRPPPYDAV	1.0	3.0	unscreened	-	3466_2:226447475-226447475 C>T_SPSPVSMGRSLTSLSLKRPPPYDAV
3:128780839-128780839 C>T	0.0	3466	MELANOMA	-	-	ID=COSM311522;OCCURENCE=1(lung)	-	GP9	uc003elm.2,p.P86L|NM_000174,p.P86L|ENST00000307395,p.P86L|uc021xdn.1,p.P86L	protein_coding	uc021xdn.1	nonsynonymous SNV	exon1	c.C257T	p.P86L	LPQLQTLDVTQNPWHCDCSLTYLRL	LPQLQTLDVTQNLWHCDCSLTYLRL	1.0	2.0	unscreened	-	3466_3:128780839-128780839 C>T_LPQLQTLDVTQNLWHCDCSLTYLRL
7:31681843-31681843 G>A	0.0	3466	MELANOMA	-	-	-	-	CCDC129	uc011kae.3,p.E454K|uc003tci.1,p.E279K|uc003tck.1,p.E336K|NM_194300,p.E428K|NM_001257967,p.E438K|ENST00000451887,p.E454K|ENST00000319386,p.E280K|NM_001257968,p.E454K|ENST00000409210,p.E336K|uc003tcj.1,p.E428K|uc011kad.1,p.E438K|ENST00000407970,p.E428K	retained_intron, protein_coding, processed_transcript	uc011kae.3	nonsynonymous SNV	exon10	c.G1360A	p.E454K	ANSCQSDSSGFLEEPLEPLPLQMPS	ANSCQSDSSGFLKEPLEPLPLQMPS	1.0	8.0	unscreened	-	3466_7:31681843-31681843 G>A_ANSCQSDSSGFLKEPLEPLPLQMPS
16:20335327-20335327 C>T	0.0	3466	MELANOMA	-	-	-	-	GP2	uc002dgw.3,p.D116N|ENST00000381362,p.D116N|NM_001502,p.D116N|ENST00000572478,p.D51N|ENST00000575449,p.D116N|NM_001007240,p.D116N|ENST00000302555,p.D116N|ENST00000572347,p.D28N|uc002dgv.3,p.D116N	protein_coding, processed_transcript, nonsense_mediated_decay	uc002dgw.3	nonsynonymous SNV	exon3	c.G346A	p.D116N	SETCVQVHRCQTDAPMWLNGTHPAL	SETCVQVHRCQTNAPMWLNGTHPAL	1.0	7.0	unscreened	-	3466_16:20335327-20335327 C>T_SETCVQVHRCQTNAPMWLNGTHPAL
1:92696996-92696996 G>A	0.0	3466	MELANOMA	-	-	-	-	C1orf146	NM_001012425,p.E7K|uc001doq.3,p.E7K|ENST00000370375,p.E7K	protein_coding	uc001doq.3	nonsynonymous SNV	exon2	c.G19A	p.E7K	MAESGKEKIKWTTTIIISS	MAESGKKKIKWTTTIIISS	1.0	1.0	unscreened	-	3466_1:92696996-92696996 G>A_MAESGKKKIKWTTTIIISS
15:50546423-50546423 C>T	0.0	3466	MELANOMA	-	-	-	-	HDC	ENST00000267845,p.M208I|uc010beu.2,p.M208I|uc010uff.2,p.M208I|ENST00000543581,p.M208I|NM_002112,p.M208I|uc010bet.2,p.M129I|uc001zxz.3,p.M208I	retained_intron, protein_coding	uc010uff.2	nonsynonymous SNV	exon6	c.G624A	p.M208I	SVEKAGLISLVKMKFLPVDDNFSLR	SVEKAGLISLVKIKFLPVDDNFSLR	1.0	1.0	unscreened	-	3466_15:50546423-50546423 C>T_SVEKAGLISLVKIKFLPVDDNFSLR
6:135250253-135250253 C>T	0.0	3466	MELANOMA	-	-	-	-	ALDH8A1	ENST00000460753,p.G16D	protein_coding, nonsense_mediated_decay	ENST00000460753	nonsynonymous SNV	exon1	c.G47A	p.G16D	KRFVEATRKWKVGIPSDPLVRSYVK	KRFVEATRKWKVDIPSDPLVRSYVK	1.0	9.0	unscreened	-	3466_6:135250253-135250253 C>T_KRFVEATRKWKVDIPSDPLVRSYVK
18:48255761-48255761 C>T	0.0	3466	MELANOMA	-	-	-	-	MAPK4	uc002lev.3,p.S434L|uc010xdm.2,p.S223L|ENST00000540640,p.S223L|ENST00000400384,p.S434L|NM_001292039,p.S223L|NM_002747,p.S434L	protein_coding, processed_transcript	uc010xdm.2	nonsynonymous SNV	exon5	c.C668T	p.S223L	ADYGRSCDYKVGSPSYLDKLLWRDN	ADYGRSCDYKVGLPSYLDKLLWRDN	1.0	4.0	unscreened	-	3466_18:48255761-48255761 C>T_ADYGRSCDYKVGLPSYLDKLLWRDN
2:196771478-196771478 C>T	0.0	3466	MELANOMA	-	-	-	-	DNAH7	NM_018897,p.E1414K|ENST00000312428,p.E1414K|uc002utj.4,p.E1414K	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon27	c.G4240A	p.E1414K	RGINAGADILMFEGTELKLDPTCAV	RGINAGADILMFKGTELKLDPTCAV	1.0	2.0	unscreened	-	3466_2:196771478-196771478 C>T_RGINAGADILMFKGTELKLDPTCAV
3:109019262-109019262 C>T	0.0	3466	MELANOMA	-	-	-	-	DPPA2	uc003dxo.3,p.R292K|ENST00000478945,p.R292K|NM_138815,p.R292K	protein_coding	uc003dxo.3	nonsynonymous SNV	exon8	c.G875A	p.R292K	PDCAKRNKKMMKRLMTVEK	PDCAKRNKKMMKKLMTVEK	1.0	5.0	unscreened	-	3466_3:109019262-109019262 C>T_PDCAKRNKKMMKKLMTVEK
18:45555698-45555698 C>T	0.0	3466	MELANOMA	-	-	-	-	ZBTB7C	NM_001039360,p.G598D|ENST00000590800,p.G598D|ENST00000535628,p.G598D|uc010dnw.3,p.G598D|uc010dnv.3,p.G620D|ENST00000588982,p.G598D|ENST00000332053,p.G598D|uc010dnu.3,p.G607D|ENST00000586438,p.G598D|uc002ldb.3,p.G598D	protein_coding	uc010dnw.3	nonsynonymous SNV	exon5	c.G1793A	p.G598D	RPYFPLPDPWAAGLAGLPGLAGLNH	RPYFPLPDPWAADLAGLPGLAGLNH	1.0	3.0	unscreened	-	3466_18:45555698-45555698 C>T_RPYFPLPDPWAADLAGLPGLAGLNH
5:79032633-79032633 C>T	0.0	3466	MELANOMA	-	-	-	-	CMYA5	ENST00000446378,p.S2682L|NM_153610,p.S2682L|uc003kgc.3,p.S2682L	retained_intron, protein_coding, processed_transcript	uc003kgc.3	nonsynonymous SNV	exon2	c.C8045T	p.S2682L	SEEKEQFRESELSKGGSVDITKETV	SEEKEQFRESELLKGGSVDITKETV	3.0	9.0	unscreened	-	3466_5:79032633-79032633 C>T_SEEKEQFRESELLKGGSVDITKETV
8:145730470-145730470 C>T	0.0	3466	MELANOMA	-	-	-	-	GPT	uc031tcs.1,p.P88S|NM_005309,p.P151S|ENST00000394955,p.P151S|uc003zdh.4,p.P151S|ENST00000528431,p.P151S|uc011llj.1,p.P151S	retained_intron, protein_coding	uc031tcs.1	nonsynonymous SNV	exon3	c.C262T	p.P88S	YIERRDGGIPADPNNVFLSTGASDA	YIERRDGGIPADSNNVFLSTGASDA	1.0	8.0	unscreened	-	3466_8:145730470-145730470 C>T_YIERRDGGIPADSNNVFLSTGASDA
15:50534497-50534497 C>T	0.0	3466	MELANOMA	-	-	-	-	HDC	uc010uff.2,p.G617E|ENST00000543581,p.G617E|ENST00000267845,p.G650E|uc001zxy.3,p.G393E|NM_002112,p.G650E|uc001zxz.3,p.G650E	retained_intron, protein_coding	uc010uff.2	nonsynonymous SNV	exon11	c.G1850A	p.G617E	SVPSFPECSSQCGLQLPCCPLQAMV	SVPSFPECSSQCELQLPCCPLQAMV	1.0	2.0	unscreened	-	3466_15:50534497-50534497 C>T_SVPSFPECSSQCELQLPCCPLQAMV
12:81067033-81067033 G>A	0.0	3466	MELANOMA	-	-	-	-	PTPRQ	ENST00000266688,p.G2226R	retained_intron, protein_coding, processed_transcript	ENST00000266688	nonsynonymous SNV	exon48	c.G6676A	p.G2226R	QHINDHDFVDIYGLVAELRSERMCM	QHINDHDFVDIYRLVAELRSERMCM	1.0	9.0	unscreened	-	3466_12:81067033-81067033 G>A_QHINDHDFVDIYRLVAELRSERMCM
5:140480237-140480237 G>A	1.0	3466	MELANOMA	-	-	-	-	PCDHB3	uc003lio.3,p.E2K|NM_018937,p.E2K|ENST00000231130,p.E2K	protein_coding	uc003lio.3	nonsynonymous SNV	exon1	c.G4A	p.E2K	MEAGGERFLRQRQV	MKAGGERFLRQRQV	4.0	9.0	unscreened	-	3466_5:140480237-140480237 G>A_MKAGGERFLRQRQV
15:42445508-42445508 C>T	0.0	3466	MELANOMA	-	-	-	-	PLA2G4F	ENST00000561627,p.G112R	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000561627	nonsynonymous SNV	exon5	c.G334A	p.G112R	RARCLHLKSSPTGFWWLTPV	RARCLHLKSSPTRFWWLTPV	1.0	1.0	unscreened	-	3466_15:42445508-42445508 C>T_RARCLHLKSSPTRFWWLTPV
14:55448271-55448271 G>A	1.0	3466	MELANOMA	-	-	ID=COSM416663;OCCURENCE=1(urinary_tract)	-	WDHD1	ENST00000421192,p.P561S|uc001xbm.2,p.P684S|ENST00000359167,p.P202S|uc010aom.2,p.P201S|uc001xbn.2,p.P561S|NM_001008396,p.P561S|NM_007086,p.P684S|ENST00000420358,p.P561S|ENST00000360586,p.P684S	retained_intron, protein_coding, nonsense_mediated_decay	uc010aom.2	nonsynonymous SNV	exon4	c.C601T	p.P201S	SDHYWVVGIHENPQQLRCIPCKGSR	SDHYWVVGIHENSQQLRCIPCKGSR	7.0	4.0	unscreened	-	3466_14:55448271-55448271 G>A_SDHYWVVGIHENSQQLRCIPCKGSR
1:9067435-9067435 G>A	0.0	3466	MELANOMA	-	-	-	-	SLC2A7	uc009vmo.1,p.P376S|NM_207420,p.P376S|ENST00000400906,p.P376S	protein_coding	uc009vmo.1	nonsynonymous SNV	exon10	c.C1126T	p.P376S	VLTVVLLFQNRVPELSYLGIICVFA	VLTVVLLFQNRVSELSYLGIICVFA	1.0	4.0	unscreened	-	3466_1:9067435-9067435 G>A_VLTVVLLFQNRVSELSYLGIICVFA
11:17150922-17150922 G>A	1.0	3466	MELANOMA	-	-	-	-	PIK3C2A	uc001mmq.4,p.S775F|uc010rcw.2,p.S395F|ENST00000540361,p.S395F|NM_002645,p.S775F|ENST00000265970,p.S775F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010rcw.2	nonsynonymous SNV	exon12	c.C1184T	p.S395F	TLFGILNQSSGSSPDSNKQRKGPEA	TLFGILNQSSGSFPDSNKQRKGPEA	9.0	7.0	-	-	3466_11:17150922-17150922 G>A_TLFGILNQSSGSFPDSNKQRKGPEA
19:49399702-49399702 G>A	0.0	3466	MELANOMA	-	-	-	-	TULP2	ENST00000522945,p.L66F	retained_intron, protein_coding	ENST00000522945	nonsynonymous SNV	exon4	c.C196T	p.L66F	PWLWRSCLREERLLGLGNPFLRKKV	PWLWRSCLREERFLGLGNPFLRKKV	1.0	8.0	unscreened	-	3466_19:49399702-49399702 G>A_PWLWRSCLREERFLGLGNPFLRKKV
1:197021915-197021915 C>T	0.0	3466	MELANOMA	-	-	-	-	F13B	NM_001994,p.M468I|ENST00000367412,p.M468I|uc001gtt.1,p.M468I	protein_coding, processed_transcript	uc001gtt.1	nonsynonymous SNV	exon9	c.G1404A	p.M468I	VNVDYMNRNNIEMKWKYEGKVLHGD	VNVDYMNRNNIEIKWKYEGKVLHGD	1.0	6.0	unscreened	-	3466_1:197021915-197021915 C>T_VNVDYMNRNNIEIKWKYEGKVLHGD
21:15599232-15599232 T>C	1.0	3466	MELANOMA	-	-	-	-	RBM11	ENST00000400577,p.L155P|uc002yjn.4,p.L41P|NM_144770,p.L155P|uc002yjo.4,p.L155P|uc002yjp.4,p.L41P	retained_intron, protein_coding, processed_transcript	uc002yjp.4	nonsynonymous SNV	exon4	c.T122C	p.L41P	KMQWHVYNPVLQLPYYEMTAPLPNS	KMQWHVYNPVLQPPYYEMTAPLPNS	2.0	7.0	unscreened	-	3466_21:15599232-15599232 T>C_KMQWHVYNPVLQPPYYEMTAPLPNS
11:56086282-56086282 C>T	0.0	3466	MELANOMA	-	-	-	-	OR8K3	NM_001005202,p.S167F|uc010rjf.2,p.S167F|ENST00000312711,p.S167F	protein_coding	uc010rjf.2	nonsynonymous SNV	exon1	c.C500T	p.S167F	ISLLVTIKIFTLSFCGYNIISHFYC	ISLLVTIKIFTLFFCGYNVISHFYC	1.0	5.0	unscreened	Snp within 36 nucleotides, 11:56086299-56086299 G>A, residue 19 V>I PR	3466_11:56086282-56086282 C>T_ISLLVTIKIFTLFFCGYNVISHFYC
2:30987071-30987071 G>A, 2:30987072-30987072 G>T	0.0	3466	MELANOMA	-	-	-	-	CAPN13	ENST00000534090,p.P209T|uc002rnp.1,p.P209T|ENST00000458085,p.P209T|uc021vfm.1,p.P209T|NM_144575,p.P209T|uc021vfn.1,p.P209T|ENST00000295055,p.P209T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vfn.1	nonsynonymous SNV	exon5	c.C625A	p.P209T	GGVITNIHLHSSPVDLVKAVKTATK	GGVITNIHLHSSIVDLVKAVKTATK	1.0	1.0	unscreened	Dinculeotide variant, 2:30987071-30987071 G>A, residue 13 P>I PR	3466_2:30987071-30987071 G>A, 2:30987072-30987072 G>T_GGVITNIHLHSSIVDLVKAVKTATK
X:20030551-20030551 C>T	0.0	3466	MELANOMA	-	-	-	-	MAP7D2	ENST00000379643,p.G663E|uc011mjj.2,p.G577E|NM_001168465,p.G663E|ENST00000452324,p.G570E|uc011mji.2,p.G570E|ENST00000379651,p.G622E|ENST00000443379,p.G577E|uc004czq.2,p.G507E|NM_152780,p.G622E|NM_001168467,p.G570E|NM_001168466,p.G577E|ENST00000543767,p.G507E|uc004czr.2,p.G622E|uc010nfo.2,p.G663E	protein_coding, processed_transcript, nonsense_mediated_decay	uc011mjj.2	nonsynonymous SNV	exon13	c.G1730A	p.G577E	PQDIFSNGLKPAGGLIHLDALDGKS	PQDIFSNGLKPAEGLIHLDALDGKS	1.0	9.0	unscreened	-	3466_X:20030551-20030551 C>T_PQDIFSNGLKPAEGLIHLDALDGKS
5:140262832-140262832 A>T	0.0	3466	MELANOMA	-	-	-	-	PCDHA13	ENST00000289272,p.N327Y|uc003lif.2,p.N327Y|NM_031865,p.N327Y|NM_018904,p.N327Y|ENST00000409494,p.N327Y|uc003lie.1,p.N327Y|uc003lid.3,p.N327Y	protein_coding	uc003lif.2	nonsynonymous SNV	exon1	c.A979T	p.N327Y	LYEISVEAVDKGNIPMAGHCTLLVE	LYEISVEAVDKGYIPMAGHCTLLVE	1.0	9.0	unscreened	-	3466_5:140262832-140262832 A>T_LYEISVEAVDKGYIPMAGHCTLLVE
1:186329430-186329430 A>G	1.0	3466	MELANOMA	-	-	-	1	TPR	uc010pop.2,p.V465A|uc001grv.3,p.V389A|NM_003292,p.V389A|ENST00000367478,p.V389A	retained_intron, protein_coding, processed_transcript	uc010pop.2	nonsynonymous SNV	exon12	c.T1394C	p.V465A	AMSPTAAAVAKIVKPGMKLTELYNA	AMSPTAAAVAKIAKPGMKLTELYNA	9.0	5.0	-	-	3466_1:186329430-186329430 A>G_AMSPTAAAVAKIAKPGMKLTELYNA
19:9061332-9061332 G>A	0.0	3466	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.S8705F|uc002mkp.3,p.S8705F|NM_024690,p.S8705F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C26114T	p.S8705F	AFPETMMTQPTSSLTSGLREISTSQ	AFPETMMTQPTSFLTSGLREISTSQ	1.0	7.0	unscreened	-	3466_19:9061332-9061332 G>A_AFPETMMTQPTSFLTSGLREISTSQ
12:69264150-69264150 C>T	0.0	3466	MELANOMA	-	-	-	-	CPM	ENST00000548954,p.R154Q|uc001sur.3,p.R154Q|uc001suq.3,p.R154Q|NM_001874,p.R154Q|ENST00000546373,p.R154Q|ENST00000338356,p.R154Q|ENST00000551568,p.R154Q|uc001sup.3,p.R154Q|NM_198320,p.R154Q|NM_001005502,p.R154Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sur.3	nonsynonymous SNV	exon5	c.G461A	p.R154Q	IGRENYNQYDLNRNFPDAFEYNNVS	IGRENYNQYDLNQNFPDAFEYNNVS	5.0	9.0	unscreened	-	3466_12:69264150-69264150 C>T_IGRENYNQYDLNQNFPDAFEYNNVS
1:34189886-34189886 G>A	0.0	3466	MELANOMA	-	-	-	-	CSMD2	NM_052896,p.S931F|ENST00000373381,p.S971F|NM_001281956,p.S971F|uc001bxn.1,p.S931F|ENST00000241312,p.S931F|uc001bxm.1,p.S971F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxn.1	nonsynonymous SNV	exon19	c.C2792T	p.S931F	SCEALCGGFIQGSSGTILSPGFPDF	SCEALCGGFIQGFSGTILSPGFPDF	1.0	8.0	unscreened	-	3466_1:34189886-34189886 G>A_SCEALCGGFIQGFSGTILSPGFPDF
9:6255971-6255971 C>T	0.0	3466	MELANOMA	-	-	-	-	IL33	ENST00000417746,p.H80Y|ENST00000381434,p.H206Y|uc011lmh.2,p.H80Y|uc022bdf.1,p.H164Y|NM_001199640,p.H164Y|NM_033439,p.H206Y|uc003zjt.3,p.H206Y|uc011lmg.2,p.H164Y|NM_001199641,p.H80Y|ENST00000456383,p.H164Y	protein_coding, processed_transcript	uc022bdf.1	nonsynonymous SNV	exon6	c.C490T	p.H164Y	LHANNKEHSVELHKCEKPLPDQAFF	LHANNKEHSVELYKCEKPLPDQAFF	2.0	9.0	unscreened	-	3466_9:6255971-6255971 C>T_LHANNKEHSVELYKCEKPLPDQAFF
2:188210949-188210949 C>T	0.0	3466	MELANOMA	-	-	-	-	CALCRL	ENST00000409998,p.E450K|uc002upv.5,p.E450K|uc010frt.4,p.E450K|ENST00000392370,p.E450K|ENST00000410068,p.E450K|NM_005795,p.E450K|NM_001271751,p.E450K	retained_intron, protein_coding, processed_transcript	uc010frt.4	nonsynonymous SNV	exon14	c.G1348A	p.E450K	SEHLNGKSIHDIENVLLKPENLYN	SEHLNGKSIHDIKNVLLKPENLYN	5.0	2.0	unscreened	-	3466_2:188210949-188210949 C>T_SEHLNGKSIHDIKNVLLKPENLYN
1:44595407-44595407 C>T	0.0	3466	MELANOMA	-	-	-	-	KLF17	uc009vxf.1,p.P118L|NM_173484,p.P155L|uc001clp.3,p.P155L|ENST00000372299,p.P155L	protein_coding, processed_transcript	uc009vxf.1	nonsynonymous SNV	exon3	c.C353T	p.P118L	VARPFGGNLRMPPSGLPVSASTGIP	VARPFGGNLRMPLSGLPVSASTGIP	2.0	1.0	unscreened	Snp within 36 nucleotides, 1:44595410-44595410 A>G, residue 14 N>S PR	3466_1:44595407-44595407 C>T_VARPFGGNLRMPLSGLPVSASTGIP
3:148917610-148917610 T>C	0.0	3466	MELANOMA	-	-	-	-	CP	ENST00000481169,p.T464A|ENST00000264613,p.T464A|uc003ewy.4,p.T464A|uc003ewz.3,p.T464A|ENST00000494544,p.T247A|uc003ewx.4,p.T245A|uc010hvf.1,p.T190A|NM_000096,p.T464A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hvf.1	nonsynonymous SNV	exon4	c.A568G	p.T190A	VIWAEVGDTIRVTFHNKGAYPLSIE	VIWAEVGDTIRVAFHNKGAYPLSIE	4.0	4.0	unscreened	-	3466_3:148917610-148917610 T>C_VIWAEVGDTIRVAFHNKGAYPLSIE
7:48311895-48311895 C>T	0.0	3466	MELANOMA	-	-	-	-	ABCA13	ENST00000435803,p.H878Y|uc010kyr.2,p.H381Y|uc003toq.2,p.H878Y|NM_152701,p.H878Y	retained_intron, protein_coding, nonsense_mediated_decay	uc010kyr.2	nonsynonymous SNV	exon18	c.C1141T	p.H381Y	ILSTSFNFSQLFHSDWPKSPAMNID	ILSTSFNFSQLFYSDWPKSPAMNID	1.0	9.0	unscreened	-	3466_7:48311895-48311895 C>T_ILSTSFNFSQLFYSDWPKSPAMNID
12:21997714-21997714 G>A	0.0	3466	MELANOMA	-	-	-	-	ABCC9	uc001rfi.1,p.L1078F|NM_005691,p.L1078F|ENST00000261200,p.L1078F|ENST00000261201,p.L1078F|ENST00000544039,p.L705F|NM_020297,p.L1078F|uc001rfh.3,p.L1078F|ENST00000345162,p.L1042F	protein_coding	uc001rfi.1	nonsynonymous SNV	exon25	c.C3232T	p.L1078F	KNLHHNLLNKIILGPIRFFDTTPLG	KNLHHNLLNKIIFGPIRFFDTTPLG	5.0	5.0	unscreened	-	3466_12:21997714-21997714 G>A_KNLHHNLLNKIIFGPIRFFDTTPLG
13:103388354-103388354 T>G	0.0	3466	MELANOMA	-	-	-	-	CCDC168	uc001vpm.3,p.K4898T|NM_001146197,p.K4898T|ENST00000322527,p.K269T	protein_coding	uc001vpm.3	nonsynonymous SNV	exon4	c.A14693C	p.K4898T	VKIEGREGRILPKRIHLRAEALPLA	VKIEGREGRILPTRIHLRAEALPLA	1.0	9.0	unscreened	-	3466_13:103388354-103388354 T>G_VKIEGREGRILPTRIHLRAEALPLA
5:13814750-13814750 C>T	0.0	3466	MELANOMA	-	-	-	-	DNAH5	uc003jfd.2,p.M2398I|NM_001369,p.M2398I|ENST00000265104,p.M2398I	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon43	c.G7194A	p.M2398I	SPATVSRNGMVFMSSSILDWSPILE	SPATVSRNGMVFISSSILDWSPILE	1.0	3.0	unscreened	-	3466_5:13814750-13814750 C>T_SPATVSRNGMVFISSSILDWSPILE
19:2248300-2248300 C>T	1.0	3466	MELANOMA	-	-	-	-	SF3A2	NM_007165,p.P384S|ENST00000221494,p.P384S|uc002lvg.3,p.P384S	retained_intron, protein_coding, nonsense_mediated_decay	uc002lvg.3	nonsynonymous SNV	exon9	c.C1150T	p.P384S	VHPQAPGVHPAAPAVHPQAPGVHPP	VHPQAPGVHPAASAVHPQAPGVHPP	7.0	8.0	-	-	3466_19:2248300-2248300 C>T_VHPQAPGVHPAASAVHPQAPGVHPP
1:175116133-175116133 C>T	0.0	3466	MELANOMA	-	-	-	-	TNN	uc001gkl.1,p.P1276S|ENST00000239462,p.P1276S|NM_022093,p.P1276S	protein_coding	uc001gkl.1	nonsynonymous SNV	exon19	c.C3826T	p.P1276S	EFSIPYVELKIRPHGYSREPVLGRK	EFSIPYVELKIRSHGYSREPVLGRK	1.0	2.0	unscreened	-	3466_1:175116133-175116133 C>T_EFSIPYVELKIRSHGYSREPVLGRK
2:167263132-167263132 C>T	0.0	3466	MELANOMA	-	-	-	-	SCN7A	uc002udu.2,p.G1336E|ENST00000409855,p.G1336E|NM_002976,p.G1336E	retained_intron, protein_coding, nonsense_mediated_decay	uc002udu.2	nonsynonymous SNV	exon25	c.G4007A	p.G1336E	FSITGLCLPMTVGSYLVPPSLVQLI	FSITGLCLPMTVESYLVPPSLVQLI	4.0	5.0	unscreened	-	3466_2:167263132-167263132 C>T_FSITGLCLPMTVESYLVPPSLVQLI
4:8869687-8869687 C>T	0.0	3466	MELANOMA	-	-	-	-	HMX1	NM_018942,p.R260Q|ENST00000400677,p.R260Q|uc003izz.1,p.R260Q	protein_coding	uc003izz.1	nonsynonymous SNV	exon2	c.G779A	p.R260Q	KIWFQNRRNKWKRQLAAELEAASLS	KIWFQNRRNKWKQQLAAELEAASLS	1.0	9.0	unscreened	-	3466_4:8869687-8869687 C>T_KIWFQNRRNKWKQQLAAELEAASLS
7:98786113-98786113 G>A	0.0	3466	MELANOMA	-	-	-	-	KPNA7	ENST00000327442,p.T237I|uc010lft.2,p.T237I|NM_001145715,p.T237I	protein_coding	uc010lft.2	nonsynonymous SNV	exon6	c.C710T	p.T237I	NLCRNKNPYPCDTAVKQILPALLHL	NLCRNKNPYPCDIAVKQILPALLHL	1.0	1.0	unscreened	-	3466_7:98786113-98786113 G>A_NLCRNKNPYPCDIAVKQILPALLHL
11:48152238-48152238 G>A	1.0	3466	MELANOMA	-	-	-	-	PTPRJ	ENST00000440289,p.G529R|NM_001098503,p.G529R|uc001ngo.4,p.G529R	retained_intron, protein_coding, processed_transcript	uc001ngo.4	nonsynonymous SNV	exon8	c.G1585A	p.G529R	FEIVPKGPNGTEGASRTVCNRTG	FEIVPKGPNGTERASRTVCNRTG	9.0	2.0	unscreened	-	3466_11:48152238-48152238 G>A_FEIVPKGPNGTERASRTVCNRTG
16:23205589-23205589 G>A	0.0	3466	MELANOMA	-	-	-	-	SCNN1G	uc002dlm.1,p.E303K|ENST00000300061,p.E303K|NM_001039,p.E303K	protein_coding	uc002dlm.1	nonsynonymous SNV	exon5	c.G907A	p.E303K	NETILSTSMGGSEYGLQVILYINEE	NETILSTSMGGSKYGLQVILYINEE	1.0	6.0	unscreened	-	3466_16:23205589-23205589 G>A_NETILSTSMGGSKYGLQVILYINEE
6:31912519-31912519 G>A	0.0	3466	MELANOMA	-	-	-	-	C2	uc011doq.2,p.E611K|NM_000063,p.E640K|uc003nyf.3,p.E640K|uc011dor.2,p.E487K|NM_001178063,p.E426K|uc003nyh.2,p.E291K|NM_001282458,p.E611K|ENST00000442278,p.E508K|uc011doo.2,p.E394K|ENST00000452323,p.E426K|uc011dop.2,p.E426K|ENST00000556679,p.E487K|ENST00000469372,p.E394K|uc003nyc.2,p.E427K|NM_001145903,p.E508K|uc010jtk.3,p.E508K|ENST00000497706,p.E427K|ENST00000456570,p.E487K|ENST00000477310,p.E411K|NM_001282457,p.E394K|ENST00000299367,p.E640K	 processed_transcript,retained_intron, protein_coding, nonsense_mediated_decay	uc011dor.2	nonsynonymous SNV	exon13	c.G1459A	p.E487K	NLKMGVEWTSCAEVVSQEKTMFPNL	NLKMGVEWTSCAKVVSQEKTMFPNL	7.0	9.0	unscreened	-	3466_6:31912519-31912519 G>A_NLKMGVEWTSCAKVVSQEKTMFPNL
7:150557656-150557656 G>A	0.0	3466	MELANOMA	-	-	ID=COSM3396808,COSM225256;OCCURENCE=1(breast),1(NS)	-	AOC1	ENST00000360937,p.D642N|ENST00000416793,p.D661N|uc003wia.2,p.D661N|NM_001091,p.D642N|NM_001272072,p.D661N|uc003why.1,p.D642N|ENST00000467291,p.D642N|uc003whz.2,p.D642N|ENST00000493429,p.D642N	protein_coding, processed_transcript	uc003wia.2	nonsynonymous SNV	exon4	c.G1981A	p.D661N	SELCSSSIYHQNDPWHPPVVFEQFL	SELCSSSIYHQNNPWHPPVVFEQFL	1.0	8.0	unscreened	-	3466_7:150557656-150557656 G>A_SELCSSSIYHQNNPWHPPVVFEQFL
17:21319792-21319792 G>A	0.0	3466	MELANOMA	-	-	-	-	KCNJ12,KCNJ18	NM_001194958,p.E380K|uc002gyv.1,p.E380K|ENST00000583088,p.E380K|uc021tst.1,p.E380K|NM_021012,p.E380K|ENST00000331718,p.E380K|uc021tss.1,p.E380K	protein_coding	uc021tst.1	nonsynonymous SNV	exon1	c.G1138A	p.E380K	LLPSANSFCYENELAFLSRDEEDEA	LLPSANSFCYENKLAFLSRDEEDEA	1.0	2.0	unscreened	-	3466_17:21319792-21319792 G>A_LLPSANSFCYENKLAFLSRDEEDEA
8:109796904-109796904 C>T	0.0	3466	MELANOMA	-	-	-	-	TMEM74	NM_153015,p.E142K|ENST00000297459,p.E142K|uc022azr.1,p.E142K|uc003ymy.1,p.E142K	protein_coding, processed_transcript	uc022azr.1	nonsynonymous SNV	exon1	c.G424A	p.E142K	AKGHNHPGELGWENPNEWSQEAAIS	AKGHNHPGELGWKNPNEWSQEAAIS	1.0	9.0	unscreened	-	3466_8:109796904-109796904 C>T_AKGHNHPGELGWKNPNEWSQEAAIS
11:56086095-56086095 C>T	0.0	3466	MELANOMA	-	-	-	-	OR8K3	ENST00000312711,p.L105F|uc010rjf.2,p.L105F|NM_001005202,p.L105F	protein_coding	uc010rjf.2	nonsynonymous SNV	exon1	c.C313T	p.L105F	SYYFCATQLAFFLVFIGSELFILSA	SYYFCATQLAFFFVFIGSELFILSA	1.0	6.0	unscreened	-	3466_11:56086095-56086095 C>T_SYYFCATQLAFFFVFIGSELFILSA
6:55120087-55120087 C>T	0.0	3466	MELANOMA	-	-	-	-	HCRTR2	NM_001526,p.P186S|ENST00000370862,p.P186S|uc003pcl.3,p.P186S|uc010jzw.1,p.P121S	protein_coding	uc010jzw.1	nonsynonymous SNV	exon3	c.C361T	p.P121S	VIIWIVSCIIMIPQAIVMECSTVFP	VIIWIVSCIIMISQAIVMECSTVFP	1.0	1.0	unscreened	-	3466_6:55120087-55120087 C>T_VIIWIVSCIIMISQAIVMECSTVFP
3:140178504-140178504 C>T	0.0	3466	MELANOMA	-	-	-	-	CLSTN2	NM_022131,p.P372L|uc003etn.3,p.P372L|ENST00000458420,p.P372L|uc003etm.2,p.P372L	retained_intron, protein_coding	uc003etn.3	nonsynonymous SNV	exon7	c.C1115T	p.P372L	GRQGAKIPDGIVPKNLTDQFTITMW	GRQGAKIPDGIVLKNLTDQFTITMW	1.0	4.0	unscreened	Snp within 36 nucleotides, 3:140178485-140178485 G>A, residue 7 V>I PR	3466_3:140178504-140178504 C>T_GRQGAKIPDGIVLKNLTDQFTITMW
10:21076225-21076225 G>A, 10:21076226-21076226 G>A	0.0	3466	MELANOMA	-	-	-	-	NEBL	uc021pnu.1,p.P181L|ENST00000417816,p.P181L|uc001iqk.3,p.P181L|NM_001173484,p.P181L|NM_213569,p.P181L|ENST00000377159,p.P147L	retained_intron, protein_coding, processed_transcript	uc021pnu.1	nonsynonymous SNV	exon6	c.C542T	p.P181L	DRRPGIIVAPVLPGAYQQSHSQGYG	DRRPGIIVAPVLFGAYQQSHSQGYG	2.0	7.0	unscreened	Dinucleotide variant 10:21076226-21076226 G>A, residue 13 P>F PR	3466_10:21076225-21076225 G>A, 10:21076226-21076226 G>A_DRRPGIIVAPVLFGAYQQSHSQGYG
2:108881338-108881338 G>A	0.0	3466	MELANOMA	-	-	-	-	SULT1C3	uc010ywo.2,p.E227K|ENST00000329106,p.E227K|NM_001008743,p.E227K	protein_coding	uc010ywo.2	nonsynonymous SNV	exon6	c.G679A	p.E227K	KILKFLEKDISEEILNKIIYHTSFD	KILKFLEKDISEKILNKIIYHTSFD	1.0	3.0	unscreened	-	3466_2:108881338-108881338 G>A_KILKFLEKDISEKILNKIIYHTSFD
20:34135216-34135216 C>T	1.0	3466	MELANOMA	-	-	-	-	ERGIC3	ENST00000279052,p.R141C|uc002xcr.1,p.R141C|NM_015966,p.R141C|ENST00000447986,p.R141C|ENST00000357394,p.R141C|uc002xct.3,p.R141C|NM_198398,p.R141C|uc010zvg.2,p.R141C|uc002xcs.3,p.R141C|ENST00000348547,p.R141C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zvg.2	nonsynonymous SNV	exon5	c.C421T	p.R141C	VTVFDPDSLDPDRCESCYGAEAEDI	VTVFDPDSLDPDCCESCYGAEAEDI	10.0	2.0	-	-	3466_20:34135216-34135216 C>T_VTVFDPDSLDPDCCESCYGAEAEDI
16:72993990-72993990 G>A	0.0	3466	MELANOMA	-	-	-	1	ZFHX3	uc002fck.3,p.P19S|NM_006885,p.P19S|ENST00000268489,p.P19S	retained_intron, protein_coding	uc002fck.3	nonsynonymous SNV	exon2	c.C55T	p.P19S	PVVSGKDNGCGIPQHQQWTELNSTH	PVVSGKDNGCGISQHQQWTELNSTH	7.0	8.0	unscreened	-	3466_16:72993990-72993990 G>A_PVVSGKDNGCGISQHQQWTELNSTH
2:196709817-196709817 C>G, 2:196709818-196709818 C>A	0.0	3466	MELANOMA	-	-	-	-	DNAH7	ENST00000312428,p.M2951I|uc002utj.4,p.M2951I|NM_018897,p.M2951I	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon47	c.G8853T	p.M2951I	GRDIPCSDDCSLMGTLGEAVTIRTW	GRDIPCSDDCSLIRTLGEAVTIRTWN	1.0	6.0	unscreened	Dinucleotide variant, 2:196709817-196709817 C>G, residue 14 G>R PR	3466_2:196709817-196709817 C>G, 2:196709818-196709818 C>A_GRDIPCSDDCSLIRTLGEAVTIRTWN
20:40727095-40727095 G>A	0.0	3466	MELANOMA	-	-	-	1	PTPRT	ENST00000373193,p.S1274F|ENST00000373198,p.S1293F|uc010ggi.3,p.S474F|NM_007050,p.S1271F|ENST00000373187,p.S1271F|ENST00000373184,p.S1281F|NM_133170,p.S1290F|ENST00000356100,p.S1280F|ENST00000373190,p.S1270F|uc010ggj.3,p.S1290F|uc002xkg.3,p.S1271F|ENST00000373201,p.S1261F	protein_coding, processed_transcript	uc010ggj.3	nonsynonymous SNV	exon28	c.C3869T	p.S1290F	DFWRLVFDYNCSSVVMLNEMDTAQF	DFWRLVFDYNCSFVVMLNEMDTAQF	1.0	6.0	unscreened	-	3466_20:40727095-40727095 G>A_DFWRLVFDYNCSFVVMLNEMDTAQF
11:67191633-67191633 G>A	0.0	3466	MELANOMA	-	-	-	-	CARNS1	NM_001166222,p.G805E|ENST00000307823,p.G682E|NM_020811,p.G682E|ENST00000445895,p.G805E|ENST00000531040,p.G779E|ENST00000423745,p.G682E|uc001olc.4,p.G821E|uc010rpr.2,p.G805E|uc021qmh.1,p.G240E|uc009yrp.3,p.G682E	retained_intron, protein_coding, processed_transcript	uc021qmh.1	nonsynonymous SNV	exon1	c.G719A	p.G240E	LDGVFNVELKLTGAGPRLIEINPRM	LDGVFNVELKLTEAGPRLIEINPRM	1.0	4.0	unscreened	-	3466_11:67191633-67191633 G>A_LDGVFNVELKLTEAGPRLIEINPRM
2:29293694-29293694 G>A	0.0	3466	MELANOMA	-	-	-	-	C2orf71	NM_001029883,p.P1145L|uc002rmt.2,p.P1145L|ENST00000331664,p.P1145L	protein_coding	uc002rmt.2	nonsynonymous SNV	exon1	c.C3434T	p.P1145L	AKPPLSTAHPLTPPSLPPEAGGPLG	AKPPLSTAHPLTLPSLPPEAGGPLG	1.0	4.0	unscreened	-	3466_2:29293694-29293694 G>A_AKPPLSTAHPLTLPSLPPEAGGPLG
2:132021645-132021645 C>T	0.0	3466	MELANOMA	-	-	-	-	POTEE	uc002tsk.2,p.H473Y|ENST00000356920,p.H873Y|NM_001083538,p.H873Y|uc010fmy.1,p.H337Y|uc002tsn.2,p.H873Y|uc002tsl.2,p.H455Y	protein_coding	uc010fmy.1	nonsynonymous SNV	exon4	c.C1009T	p.H337Y	HTVPIYDGNALPHATLRLDLAGREL	HTVPIYDGNALPYATLRLDLAGREL	1.0	1.0	unscreened	Snp within 36 nucleotides, 2:132021629-132021629 G>T, residue 7 E>D PR	3466_2:132021645-132021645 C>T_HTVPIYDGNALPYATLRLDLAGREL
19:49399702-49399702 G>A	0.0	3466	MELANOMA	-	-	-	-	TULP2	uc002pkz.2,p.L66F|ENST00000221399,p.L66F|ENST00000520977,p.L47F|NM_003323,p.L66F	retained_intron, protein_coding	uc002pkz.2	nonsynonymous SNV	exon4	c.C196T	p.L66F	PWLWRSCLREERLLGDRGLGNPFLR	PWLWRSCLREERFLGDRGLGNPFLR	1.0	8.0	unscreened	-	3466_19:49399702-49399702 G>A_PWLWRSCLREERFLGDRGLGNPFLR
20:60908729-60908729 G>A	0.0	3466	MELANOMA	-	-	-	-	LAMA5	uc002ycq.3,p.P971L|uc021wfw.1,p.P971L|ENST00000252999,p.P971L|NM_005560,p.P971L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wfw.1	nonsynonymous SNV	exon24	c.C2912T	p.P971L	NCTAQSQPVAFPPSTEPAFITVPQR	NCTAQSQPVAFPLSTEPAFITVPQR	4.0	6.0	unscreened	-	3466_20:60908729-60908729 G>A_NCTAQSQPVAFPLSTEPAFITVPQR
1:16342172-16342172 G>A	0.0	3466	MELANOMA	-	-	-	-	HSPB7	NM_014424,p.S139L|ENST00000311890,p.S139L|ENST00000487046,p.S144L|ENST00000463576,p.S93L|uc001axq.2,p.S231L|ENST00000375718,p.S214L|uc001axr.2,p.S232L|uc001axo.2,p.S139L|ENST00000411503,p.S134L|uc001axs.2,p.S214L|ENST00000406363,p.S143L|uc001axp.2,p.S222L	retained_intron, protein_coding	uc001axs.2	nonsynonymous SNV	exon4	c.C641T	p.S214L	QLPEDVDPTSVTSALREDGSLTIRA	QLPEDVDPTSVTLALREDGSLTIRA	4.0	6.0	unscreened	-	3466_1:16342172-16342172 G>A_QLPEDVDPTSVTLALREDGSLTIRA
15:74467278-74467278 G>A	0.0	3466	MELANOMA	-	-	-	-	ISLR	NM_201526,p.E27K|uc002axg.1,p.E27K|ENST00000249842,p.E27K|uc021sqf.1,p.E27K|NM_005545,p.E27K|uc002axh.1,p.E27K|ENST00000395118,p.E27K|ENST00000559510,p.E27K|ENST00000560862,p.E27K	protein_coding	uc021sqf.1	nonsynonymous SNV	exon1	c.G79A	p.E27K	LAQACPEPCDCGEKYGFQIADCAYR	LAQACPEPCDCGKKYGFQIADCAYR	9.0	8.0	unscreened	-	3466_15:74467278-74467278 G>A_LAQACPEPCDCGKKYGFQIADCAYR
19:55873971-55873971 C>T	0.0	3466	MELANOMA	-	-	-	-	FAM71E2	uc002qkr.2,p.D94N|ENST00000424985,p.D94N|NM_001145402,p.D94N|uc002qkq.3,p.D26N	protein_coding, nonsense_mediated_decay	uc002qkr.2	nonsynonymous SNV	exon2	c.G280A	p.D94N	DILLIGQPAEDRDCSGLVLTRMIPL	DILLIGQPAEDRNCSGLVLTRMIPL	1.0	3.0	unscreened	-	3466_19:55873971-55873971 C>T_DILLIGQPAEDRNCSGLVLTRMIPL
7:107717445-107717445 A>C	0.0	3466	MELANOMA	-	-	-	-	LAMB4	ENST00000388780,p.F690V|ENST00000418464,p.F690V|NM_007356,p.F690V|uc010ljo.1,p.F690V|ENST00000388781,p.F690V|ENST00000414450,p.F690V|uc003vey.2,p.F690V|ENST00000205386,p.F690V	retained_intron, protein_coding, processed_transcript	uc010ljo.1	nonsynonymous SNV	exon17	c.T2068G	p.F690V	LEPDVQYSIDVYFSQPLQGESHAHS	LEPDVQYSIDVYVSQPLQGESHAHS	3.0	9.0	unscreened	-	3466_7:107717445-107717445 A>C_LEPDVQYSIDVYVSQPLQGESHAHS
5:128362975-128362975 G>A	0.0	3466	MELANOMA	-	-	-	-	SLC27A6	NM_001017372,p.D469N|ENST00000395266,p.D469N|ENST00000506176,p.D469N|ENST00000262462,p.D469N|NM_014031,p.D469N|uc003kuy.3,p.D469N|uc003kuz.3,p.D469N	protein_coding	uc003kuz.3	nonsynonymous SNV	exon7	c.G1405A	p.D469N	DVYLNTGDLIVQDQDNFLYFWDRTG	DVYLNTGDLIVQNQDNFLYFWDRTG	1.0	9.0	unscreened	-	3466_5:128362975-128362975 G>A_DVYLNTGDLIVQNQDNFLYFWDRTG
3:167189510-167189510 G>A	0.0	3466	MELANOMA	-	-	-	-	SERPINI2	ENST00000471111,p.S38F|uc003fes.2,p.S48F|ENST00000476257,p.S38F|ENST00000466903,p.S38F|ENST00000264677,p.S38F|ENST00000461846,p.S38F|NM_001012303,p.S48F|uc003fer.2,p.S38F|ENST00000467583,p.S38F|uc003fet.2,p.S38F|NM_006217,p.S38F	retained_intron, protein_coding, processed_transcript	uc003fet.2	nonsynonymous SNV	exon2	c.C113T	p.S38F	NTEFAVDLYQEVSLSHKDNIIFSPL	NTEFAVDLYQEVFLSHKDNIIFSPL	1.0	7.0	unscreened	-	3466_3:167189510-167189510 G>A_NTEFAVDLYQEVFLSHKDNIIFSPL
X:65824951-65824951 G>A	0.0	3466	MELANOMA	-	-	-	-	EDA2R	NM_021783,p.R69C|NM_001242310,p.R69C|ENST00000396050,p.R69C|NM_001199687,p.R69C|uc004dwq.3,p.R69C|ENST00000374719,p.R69C|uc004dwt.2,p.R69C|uc022byh.1,p.R69C|ENST00000450752,p.R69C|ENST00000253392,p.R69C|uc004dwr.3,p.R69C|uc004dws.3,p.R69C|ENST00000456230,p.R69C	protein_coding	uc022byh.1	nonsynonymous SNV	exon2	c.C205T	p.R69C	KCQSCITCAVINRVQKVNCTATSNA	KCQSCITCAVINCVQKVNCTATSNA	3.0	9.0	unscreened	Snp within 26 nucleotides, X:65824896-65824896 C>T, residue 1 R>K PR	3466_X:65824951-65824951 G>A_KCQSCITCAVINCVQKVNCTATSNA
4:138451727-138451727 C>T	0.0	3466	MELANOMA	-	-	-	-	PCDH18	ENST00000507846,p.E286K|uc003ihe.4,p.E506K|uc003ihg.4,p.E286K|uc003ihf.4,p.E499K|ENST00000412923,p.E506K|NM_001300828,p.E506K|NM_019035,p.E506K|ENST00000344876,p.E506K	protein_coding	uc003ihg.4	nonsynonymous SNV	exon2	c.G856A	p.E286K	LGENGQVTYTILESFILGSSITTYV	LGENGQVTYTILKSFILGSSITTYV	5.0	5.0	unscreened	-	3466_4:138451727-138451727 C>T_LGENGQVTYTILKSFILGSSITTYV
12:97023971-97023971 G>A	0.0	3466	MELANOMA	-	-	-	-	CDK17,NEDD1	uc001ter.1,p.E382K|uc001tes.3,p.E76K	retained_intron, protein_coding, processed_transcript	uc001tes.3	nonsynonymous SNV	exon4	c.G226A	p.E76K	ANKSLKFKAAVMEIGRSAEMQQRIR	ANKSLKFKAAVMKIGRSAEMQQRIR	1.0	9.0	unscreened	-	3466_12:97023971-97023971 G>A_ANKSLKFKAAVMKIGRSAEMQQRIR
19:6902024-6902024 C>T	0.0	3466	MELANOMA	-	-	ID=COSM349695;OCCURENCE=1(lung)	-	EMR1	NM_001256253,p.S218L|uc010dvb.4,p.S166L|ENST00000312053,p.S218L|ENST00000595026,p.S184L|ENST00000250572,p.S218L|uc010dvc.4,p.S218L|NM_001974,p.S218L|NM_001256252,p.S166L|ENST00000381404,p.S166L|uc002mfw.4,p.S218L	retained_intron, protein_coding, processed_transcript	uc010dvc.4	nonsynonymous SNV	exon6	c.C653T	p.S218L	SSGHLSFQGLKASCEDIDECTEMCP	SSGHLSFQGLKALCEDIDECTEMCP	2.0	2.0	unscreened	-	3466_19:6902024-6902024 C>T_SSGHLSFQGLKALCEDIDECTEMCP
12:70065338-70065338 C>T	0.0	3466	MELANOMA	-	-	-	-	BEST3	NM_032735,p.E324K|NM_001282614,p.E324K|ENST00000330891,p.E324K|NM_152439,p.E111K|ENST00000488961,p.E111K|uc001svg.3,p.E324K|NM_001282613,p.E218K|ENST00000553096,p.E218K|uc001svf.3,p.E111K|uc010stm.2,p.E218K|uc001svd.2,p.E324K|ENST00000476098,p.E111K|ENST00000331471,p.E324K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010stm.2	nonsynonymous SNV	exon7	c.G652A	p.E218K	DRNLQVSLLAVDEMHMSLPKMKKDI	DRNLQVSLLAVDKMHMSLPKMKKDI	1.0	9.0	unscreened	-	3466_12:70065338-70065338 C>T_DRNLQVSLLAVDKMHMSLPKMKKDI
21:40969914-40969914 C>T	0.0	3466	MELANOMA	-	-	-	-	B3GALT5-AS1	ENST00000380612,p.G52E|uc010gok.4,p.G52E	protein_coding, processed_transcript	uc010gok.4	nonsynonymous SNV	exon3	c.G155A	p.G52E	GTQGMLEQYLNRGGQKSHGLCWLLC	GTQGMLEQYLNREGQKSHGLCWLLC	1.0	1.0	unscreened	-	3466_21:40969914-40969914 C>T_GTQGMLEQYLNREGQKSHGLCWLLC
8:25745435-25745435 C>T	0.0	3466	MELANOMA	-	-	-	-	EBF2	uc003xes.2,p.A269T|ENST00000520164,p.A269T|ENST00000408929,p.A121T|NM_022659,p.A269T	retained_intron, protein_coding	uc003xes.2	nonsynonymous SNV	exon9	c.G805A	p.A269T	AISPSEGWTTGGAMVIIIGDNFFDG	AISPSEGWTTGGTMVIIIGDNFFDG	5.0	7.0	unscreened	-	3466_8:25745435-25745435 C>T_AISPSEGWTTGGTMVIIIGDNFFDG
17:7751165-7751165 C>T	1.0	3466	MELANOMA	-	-	-	-	KDM6B	uc002giw.1,p.P520L|ENST00000448097,p.P520L|ENST00000254846,p.P520L|NM_001080424,p.P520L	protein_coding, processed_transcript	uc002giw.1	nonsynonymous SNV	exon11	c.C1559T	p.P520L	TEGPPRPAPPPLPHREGFLGPPASR	TEGPPRPAPPPLLHREGFLGPPASR	6.0	9.0	unscreened	-	3466_17:7751165-7751165 C>T_TEGPPRPAPPPLLHREGFLGPPASR
20:9538374-9538374 C>T	0.0	3466	MELANOMA	-	-	-	-	PAK7	ENST00000378429,p.E542K|uc010gby.1,p.E542K|uc002wnk.2,p.E542K|ENST00000353224,p.E542K|NM_020341,p.E542K|NM_177990,p.E542K|uc002wnj.2,p.E542K|ENST00000378423,p.E542K|uc002wnl.2,p.E542K	protein_coding	uc010gby.1	nonsynonymous SNV	exon7	c.G1624A	p.E542K	ALTDIVTHTRMNEEQIATVCLSVLR	ALTDIVTHTRMNKEQIATVCLSVLR	1.0	6.0	unscreened	-	3466_20:9538374-9538374 C>T_ALTDIVTHTRMNKEQIATVCLSVLR
12:124311336-124311336 C>T	0.0	3466	MELANOMA	-	-	-	-	DNAH10	uc001uft.4,p.R1310W|ENST00000409039,p.R1310W|NM_207437,p.R1310W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uft.4	nonsynonymous SNV	exon24	c.C3928T	p.R1310W	IEGFLRALRKLPRPVRGLSVTYYLE	IEGFLRALRKLPWPVRGLSVTYYLE	1.0	9.0	unscreened	-	3466_12:124311336-124311336 C>T_IEGFLRALRKLPWPVRGLSVTYYLE
11:10508849-10508849 G>A	0.0	3466	MELANOMA	-	-	-	-	AMPD3	ENST00000529834,p.E293K|uc001mip.1,p.E300K|ENST00000396553,p.E293K|NM_001172431,p.E134K|ENST00000529507,p.E293K|ENST00000444303,p.E134K|uc010rbz.1,p.E134K|uc009yfy.2,p.E293K|NM_001172430,p.E293K|uc001mio.1,p.E293K|ENST00000396554,p.E302K|ENST00000528723,p.E300K|uc001min.1,p.E302K|NM_001025389,p.E293K|NM_001025390,p.E300K|NM_000480,p.E302K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rbz.1	nonsynonymous SNV	exon5	c.G400A	p.E134K	LESKFSLHEMLNEMSEFKELKSNPH	LESKFSLHEMLNKMSEFKELKSNPH	5.0	7.0	unscreened	-	3466_11:10508849-10508849 G>A_LESKFSLHEMLNKMSEFKELKSNPH
7:86394532-86394532 G>A	0.0	3466	MELANOMA	-	-	-	2	GRM3	ENST00000421579,p.G24E|ENST00000394720,p.G22E|ENST00000441140,p.G24E|ENST00000439827,p.G24E|ENST00000361669,p.G24E|uc010lef.3,p.G22E|NM_000840,p.G24E|uc003uid.3,p.G24E	protein_coding	uc010lef.3	nonsynonymous SNV	exon2	c.G65A	p.G22E	LALFSKGFLLSLGDHNFLRREIKIE	LALFSKGFLLSLEDHNFLRREIKIE	1.0	1.0	unscreened	-	3466_7:86394532-86394532 G>A_LALFSKGFLLSLEDHNFLRREIKIE
17:3585268-3585268 G>A	0.0	3466	MELANOMA	-	-	-	-	P2RX5	NM_175080,p.A304V|NM_001204519,p.A328V|ENST00000551178,p.A304V|uc002fwk.3,p.A328V|ENST00000550383,p.A329V|ENST00000225328,p.A329V|uc002fwl.3,p.A305V|uc002fwi.3,p.A329V|ENST00000552276,p.A328V|ENST00000552050,p.A269V|ENST00000435558,p.A329V|NM_002561,p.A329V|ENST00000547178,p.A328V|uc010vrx.2,p.A269V|uc002fwj.3,p.A304V|ENST00000345901,p.A305V|NM_001204520,p.A305V	 processed_transcript,retained_intron, protein_coding, nonsense_mediated_decay	uc010vrx.2	nonsynonymous SNV	exon8	c.C806T	p.A269V	GIRFDVMVNGKGAFFCDLVLIYLIK	GIRFDVMVNGKGVFFCDLVLIYLIK	2.0	9.0	unscreened	-	3466_17:3585268-3585268 G>A_GIRFDVMVNGKGVFFCDLVLIYLIK
2:116283537-116283537 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1398945,COSM1398944;OCCURENCE=1(large_intestine)	-	DPP10	uc002tla.2,p.D144N|uc002tlf.2,p.D137N|ENST00000310323,p.D137N|NM_001004360,p.D137N|uc002tlc.2,p.D140N|uc002tlb.2,p.D94N|uc002tle.3,p.D148N|NM_020868,p.D144N|NM_001178036,p.D94N|ENST00000410059,p.D144N|ENST00000393147,p.D148N|NM_001178034,p.D148N|ENST00000409163,p.D94N|ENST00000393146,p.D140N|NM_001178037,p.D140N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tlf.2	nonsynonymous SNV	exon5	c.G409A	p.D137N	VSPDLKYVLLAYDVKQIFHYSYTAS	VSPDLKYVLLAYNVKQIFHYSYTAS	1.0	3.0	unscreened	-	3466_2:116283537-116283537 G>A_VSPDLKYVLLAYNVKQIFHYSYTAS
13:39454604-39454604 G>A	1.0	3466	MELANOMA	-	-	-	-	FREM2	NM_207361,p.E3064K|ENST00000280481,p.E3064K|uc001uwv.3,p.E3064K	protein_coding, processed_transcript	uc001uwv.3	nonsynonymous SNV	exon24	c.G9190A	p.E3064K	KREIRSTPSLAWEIGAENSRGTNIQ	KREIRSTPSLAWKIGAENSRGTNIQ	6.0	9.0	unscreened	-	3466_13:39454604-39454604 G>A_KREIRSTPSLAWKIGAENSRGTNIQ
1:32740977-32740977 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1687340,COSM1687339;OCCURENCE=1(skin)	1	LCK	uc001buy.3,p.P112S|ENST00000373557,p.P156S|ENST00000333070,p.P112S|ENST00000336890,p.P112S|uc001bux.3,p.P112S|ENST00000495610,p.P112S|uc001bva.3,p.P170S|uc010ohc.1,p.P156S|NM_005356,p.P112S|ENST00000373562,p.P112S|ENST00000373564,p.P170S|uc001buz.3,p.P112S|ENST00000482949,p.P170S|NM_001042771,p.P112S	retained_intron, protein_coding	uc010ohc.1	nonsynonymous SNV	exon4	c.C466T	p.P156S	AQSLTTGQEGFIPFNFVAKANSLEP	AQSLTTGQEGFISFNFVAKANSLEP	4.0	7.0	unscreened	-	3466_1:32740977-32740977 C>T_AQSLTTGQEGFISFNFVAKANSLEP
11:59271530-59271530 C>T	0.0	3466	MELANOMA	-	-	-	-	OR4D11	ENST00000313253,p.S161F|uc001noa.1,p.S161F|NM_001004706,p.S161F	protein_coding	uc001noa.1	nonsynonymous SNV	exon1	c.C482T	p.S161F	WMGGFVHSIVQISLLLPLPFCGPNV	WMGGFVHSIVQIFLLLPLPFCGPNV	1.0	5.0	unscreened	-	3466_11:59271530-59271530 C>T_WMGGFVHSIVQIFLLLPLPFCGPNV
15:94910895-94910895 G>A	0.0	3466	MELANOMA	-	-	-	-	MCTP2	uc002btk.4,p.D43N|uc002btj.3,p.D455N|uc002bti.2,p.D455N|NM_001159643,p.D455N|NM_001159644,p.D43N|uc002btl.3,p.D43N|ENST00000557742,p.D43N|uc010boj.3,p.D184N|ENST00000357742,p.D455N|uc010bok.3,p.D455N|ENST00000331706,p.D43N|NM_018349,p.D455N|ENST00000451018,p.D455N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bok.3	nonsynonymous SNV	exon10	c.G1363A	p.D455N	PLKQANCLELPLDSCLGALLMLVTL	PLKQANCLELPLNSCLGALLMLVTL	5.0	1.0	unscreened	-	3466_15:94910895-94910895 G>A_PLKQANCLELPLNSCLGALLMLVTL
6:50016271-50016271 C>T	0.0	3466	MELANOMA	-	-	-	-	DEFB112	ENST00000322246,p.G32R|NM_001037498,p.G32R|uc011dws.2,p.G32R	protein_coding	uc011dws.2	nonsynonymous SNV	exon1	c.G94A	p.G32R	NTSSTIFEKARHGTEKISTARSEGH	NTSSTIFEKARHRTEKISTARSEGH	1.0	1.0	unscreened	-	3466_6:50016271-50016271 C>T_NTSSTIFEKARHRTEKISTARSEGH
10:48371305-48371305 C>T	0.0	3466	MELANOMA	-	-	-	-	ZNF488	NM_153034,p.S258L|ENST00000586537,p.S151L|ENST00000395702,p.S258L|uc001jex.3,p.S258L|uc021ppx.1,p.S258L	protein_coding	uc021ppx.1	nonsynonymous SNV	exon1	c.C773T	p.S258L	AQVPPPSSSSTTSWALLPPTLTSLG	AQVPPPSSSSTTLWALLPPTLTSLG	3.0	4.0	unscreened	-	3466_10:48371305-48371305 C>T_AQVPPPSSSSTTLWALLPPTLTSLG
1:40922736-40922736 C>T	1.0	3466	MELANOMA	-	-	-	-	ZFP69B	ENST00000484445,p.L83F	retained_intron, protein_coding	ENST00000484445	nonsynonymous SNV	exon3	c.C247T	p.L83F	PGGDAGELWEPGLSGMSAFQTWRDF	PGGDAGELWEPGFSGMSAFQTWRDF	4.0	7.0	unscreened	-	3466_1:40922736-40922736 C>T_PGGDAGELWEPGFSGMSAFQTWRDF
6:24467019-24467019 G>A	0.0	3466	MELANOMA	-	-	-	-	GPLD1	uc010jpr.1,p.P74L|ENST00000230036,p.P237L|uc010jps.1,p.P237L|uc003ned.2,p.P237L|NM_001503,p.P237L	retained_intron, protein_coding, processed_transcript	uc010jps.1	nonsynonymous SNV	exon10	c.C710T	p.P237L	VSKLYPTYSTKSPFLVEQFQEYFLG	VSKLYPTYSTKSLFLVEQFQEYFLG	1.0	8.0	unscreened	-	3466_6:24467019-24467019 G>A_VSKLYPTYSTKSLFLVEQFQEYFLG
20:60882502-60882502 C>T	1.0	3466	MELANOMA	-	-	-	-	ADRM1	NM_007002,p.S206F|NM_175573,p.S206F|uc002yco.3,p.S206F|NM_001281438,p.S167F|ENST00000253003,p.S206F|NM_001281437,p.S167F|uc002ycn.3,p.S206F	protein_coding, processed_transcript	uc002yco.3	nonsynonymous SNV	exon6	c.C617T	p.S206F	LLGSSGPPGSSSSSSSRSQSAAVTP	LLGSSGPPGSSSFSSSRSQSAAVTP	8.0	3.0	unscreened	-	3466_20:60882502-60882502 C>T_LLGSSGPPGSSSFSSSRSQSAAVTP
10:125601874-125601874 G>A	0.0	3466	MELANOMA	-	-	-	-	CPXM2	uc001lhk.1,p.S215F|NM_198148,p.S215F|ENST00000241305,p.S215F	protein_coding, processed_transcript	uc001lhk.1	nonsynonymous SNV	exon4	c.C644T	p.S215F	TRFTGVITQGRNSLWLSDWVTSYKV	TRFTGVITQGRNFLWLSDWVTSYKV	2.0	5.0	unscreened	-	3466_10:125601874-125601874 G>A_TRFTGVITQGRNFLWLSDWVTSYKV
1:176661363-176661363 C>T	0.0	3466	MELANOMA	-	-	-	-	PAPPA2	ENST00000367662,p.P845S|uc001gkz.3,p.P845S|NM_020318,p.P845S	protein_coding, processed_transcript	uc001gkz.3	nonsynonymous SNV	exon6	c.C2533T	p.P845S	VYQQWTESRKPTPIPIPPMVIGQTN	VYQQWTESRKPTSIPIPPMVIGQTN	1.0	2.0	unscreened	-	3466_1:176661363-176661363 C>T_VYQQWTESRKPTSIPIPPMVIGQTN
4:183714523-183714523 G>A	1.0	3466	MELANOMA	-	-	-	-	TENM3	NM_001080477,p.G2233E|ENST00000406950,p.G2233E|ENST00000511685,p.G2233E|uc003ivd.1,p.G2233E	retained_intron, protein_coding, processed_transcript	uc003ivd.1	nonsynonymous SNV	exon25	c.G6698A	p.G2233E	SGWTVIYRYDGLGRRVSSKTSLGQH	SGWTVIYRYDGLERRVSSKTSLGQH	8.0	3.0	-	-	3466_4:183714523-183714523 G>A_SGWTVIYRYDGLERRVSSKTSLGQH
5:157182104-157182104 C>G	0.0	3466	MELANOMA	-	-	-	-	LSM11	ENST00000286307,p.D305E|uc003lxe.1,p.D305E|NM_173491,p.D305E	protein_coding	uc003lxe.1	nonsynonymous SNV	exon4	c.C915G	p.D305E	SRSELSGRTTRTDGSSVGGTFSRAT	SRSELSGRTTRTEGSSVGGTFSRAT	3.0	9.0	unscreened	-	3466_5:157182104-157182104 C>G_SRSELSGRTTRTEGSSVGGTFSRAT
8:99591893-99591893 G>A	1.0	3466	MELANOMA	-	-	ID=COSM1102921;OCCURENCE=2(endometrium)	-	STK3	uc003yio.4,p.S344L|ENST00000518165,p.S205L|NM_006281,p.S316L|NM_001256313,p.S205L|ENST00000419617,p.S316L|NM_001256312,p.S344L|uc010mbm.2,p.S205L|ENST00000523601,p.S344L|uc003yip.4,p.S316L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010mbm.2	nonsynonymous SNV	exon6	c.C614T	p.S205L	EQQRELEEEEENSDEDELDSHTMVK	EQQRELEEEEENLDEDELDSHTMVK	8.0	1.0	unscreened	-	3466_8:99591893-99591893 G>A_EQQRELEEEEENLDEDELDSHTMVK
4:100756793-100756793 A>C	0.0	3466	MELANOMA	-	-	-	-	DAPP1	uc010ilh.3,p.N39H|uc003hvf.4,p.N39H|ENST00000296414,p.N39H|uc011cek.2,p.N39H|ENST00000512369,p.N39H|NM_014395,p.N39H	retained_intron, protein_coding	uc011cek.2	nonsynonymous SNV	exon2	c.A115C	p.N39H	AELLQDLGWYHGNLTRHAAEALLLS	AELLQDLGWYHGHLTRHAAEALLLS	5.0	3.0	unscreened	-	3466_4:100756793-100756793 A>C_AELLQDLGWYHGHLTRHAAEALLLS
11:5475133-5475133 G>A	0.0	3466	MELANOMA	-	-	-	-	OR51I2	uc010qzf.2,p.E139K|NM_001004754,p.E139K|ENST00000341449,p.E139K	protein_coding	uc010qzf.2	nonsynonymous SNV	exon1	c.G415A	p.E139K	CDPLRYATVLTTEVIAAMGLGAAAR	CDPLRYATVLTTKVIAAMGLGAAAR	1.0	2.0	unscreened	-	3466_11:5475133-5475133 G>A_CDPLRYATVLTTKVIAAMGLGAAAR
2:186658507-186658507 C>T	0.0	3466	MELANOMA	-	-	-	-	FSIP2	NM_173651,p.S2304L|ENST00000424728,p.S2215L|ENST00000343098,p.S2304L|uc002upl.3,p.S2304L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon16	c.C6911T	p.S2304L	KGSKTERKTERFSYSRNQKSAYADD	KGSKTERKTERFLYSRNQKSAYADD	1.0	7.0	unscreened	-	3466_2:186658507-186658507 C>T_KGSKTERKTERFLYSRNQKSAYADD
1:247588514-247588514 C>T	0.0	3466	MELANOMA	-	-	-	-	NLRP3	uc001icr.3,p.S590F|uc010pyw.2,p.S588F|uc001icw.3,p.S590F|uc001icv.3,p.S590F|uc001ics.3,p.S590F|ENST00000391827,p.S590F|uc001ict.1,p.S588F|ENST00000336119,p.S590F|ENST00000366496,p.S590F|NM_183395,p.S590F|NM_001127462,p.S590F|ENST00000391828,p.S590F|NM_004895,p.S590F|ENST00000348069,p.S590F|uc001icu.3,p.S590F|NM_001079821,p.S590F|NM_001243133,p.S588F|ENST00000366497,p.S590F|NM_001127461,p.S590F	protein_coding, processed_transcript	uc010pyw.2	nonsynonymous SNV	exon3	c.C1763T	p.S588F	RFLFGLVNQERTSYLEKKLSCKISQ	RFLFGLVNQERTFYLEKKLSCKISQ	4.0	1.0	unscreened	-	3466_1:247588514-247588514 C>T_RFLFGLVNQERTFYLEKKLSCKISQ
12:1995511-1995511 C>T	0.0	3466	MELANOMA	-	-	-	-	CACNA2D4	ENST00000382722,p.D291N|ENST00000588077,p.D227N|ENST00000444595,p.D291N|ENST00000585708,p.D227N|ENST00000587995,p.D291N|ENST00000586184,p.D291N|uc021qsx.1,p.D291N|NM_172364,p.D291N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qsx.1	nonsynonymous SNV	exon8	c.G871A	p.D291N	RGWYIQAATSPKDIVILVDVSGSMK	RGWYIQAATSPKNIVILVDVSGSMK	6.0	3.0	-	-	3466_12:1995511-1995511 C>T_RGWYIQAATSPKNIVILVDVSGSMK
1:62713343-62713343 C>T	0.0	3466	MELANOMA	-	-	-	-	KANK4	uc001dai.4,p.G267E|ENST00000371153,p.G895E|ENST00000354381,p.G267E|NM_181712,p.G895E|uc001daf.4,p.G33E|ENST00000317477,p.G33E|uc001dag.4,p.G251E|uc001dah.4,p.G895E|ENST00000371150,p.G251E	protein_coding	uc001dai.4	nonsynonymous SNV	exon8	c.G800A	p.G267E	LREGNVNIQATQGGQTALMLGVSHD	LREGNVNIQATQEGQTALMLGVSHD	2.0	4.0	unscreened	-	3466_1:62713343-62713343 C>T_LREGNVNIQATQEGQTALMLGVSHD
2:111753541-111753541 G>A	0.0	3466	MELANOMA	-	-	-	-	ACOXL	uc021vmm.1,p.R267K|ENST00000441974,p.R31K|uc021vmn.1,p.R237K|uc010yxk.1,p.R414K|ENST00000443586,p.R91K|ENST00000439055,p.R414K|ENST00000389811,p.R444K|ENST00000417074,p.R252K|NM_001142807,p.R414K	protein_coding, processed_transcript, nonsense_mediated_decay	uc021vmn.1	nonsynonymous SNV	exon8	c.G710A	p.R237K	LAFLLKAVKFRERVLQRGLVARIYY	LAFLLKAVKFREKVLQRGLVARIYY	1.0	1.0	unscreened	-	3466_2:111753541-111753541 G>A_LAFLLKAVKFREKVLQRGLVARIYY
1:3334501-3334501 C>T	0.0	3466	MELANOMA	-	-	-	1	PRDM16	uc001ake.3,p.S934F|NM_199454,p.S934F|ENST00000441472,p.S933F|uc001akf.3,p.S934F|ENST00000270722,p.S934F|ENST00000514189,p.S934F|ENST00000509860,p.S742F|uc009vlh.3,p.S634F|ENST00000442529,p.S933F|uc001akc.3,p.S933F|ENST00000511072,p.S935F|NM_022114,p.S934F|ENST00000378391,p.S934F|ENST00000378398,p.S934F	protein_coding, processed_transcript	uc009vlh.3	nonsynonymous SNV	exon11	c.C1901T	p.S634F	LQPLPHHPFNFRSPPPTLSDPILRK	LQPLPHHPFNFRFPPPTLSDPILRK	1.0	8.0	unscreened	-	3466_1:3334501-3334501 C>T_LQPLPHHPFNFRFPPPTLSDPILRK
15:55971553-55971553 G>A	0.0	3466	MELANOMA	-	-	-	-	PRTG	uc002adg.3,p.S355F|NM_173814,p.S355F|ENST00000389286,p.S355F	retained_intron, protein_coding, TEC	uc002adg.3	nonsynonymous SNV	exon7	c.C1064T	p.S355F	TARFVCQAEGIPSPKMSWLKNGRKI	TARFVCQAEGIPFPKMSWLKNGRKI	2.0	3.0	unscreened	-	3466_15:55971553-55971553 G>A_TARFVCQAEGIPFPKMSWLKNGRKI
11:78567023-78567023 G>A	0.0	3466	MELANOMA	-	-	ID=COSM3810517,COSM3810516;OCCURENCE=1(breast)	-	TENM4	ENST00000278550,p.P486S|NM_001098816,p.P486S|uc001ozl.4,p.P486S	retained_intron, protein_coding, processed_transcript	uc001ozl.4	nonsynonymous SNV	exon11	c.C1456T	p.P486S	ALVGIYGRKGLPPSHTQFDFVELLD	ALVGIYGRKGLPSSHTQFDFVELLD	7.0	7.0	unscreened	-	3466_11:78567023-78567023 G>A_ALVGIYGRKGLPSSHTQFDFVELLD
8:145165387-145165387 G>A	0.0	3466	MELANOMA	-	-	-	-	KIAA1875	uc011lky.1,p.D325N|ENST00000323662,p.D663N|ENST00000534167,p.D663N	retained_intron, protein_coding, nonsense_mediated_decay	uc011lky.1	nonsynonymous SNV	exon3	c.G973A	p.D325N	LGRRVTAGFEDPDSATYGLVQFGLG	LGRRVTAGFEDPNSATYGLVQFGLG	1.0	1.0	unscreened	-	3466_8:145165387-145165387 G>A_LGRRVTAGFEDPNSATYGLVQFGLG
11:7982074-7982074 G>A	0.0	3466	MELANOMA	-	-	-	-	NLRP10	NM_176821,p.S362F|uc001mfv.1,p.S362F|ENST00000328600,p.S362F	protein_coding	uc001mfv.1	nonsynonymous SNV	exon2	c.C1085T	p.S362F	ACQVPGICWVVCSWLQGQMERGKVV	ACQVPGICWVVCFWLQGQMERGKVV	1.0	7.0	unscreened	-	3466_11:7982074-7982074 G>A_ACQVPGICWVVCFWLQGQMERGKVV
22:37882067-37882067 T>C	0.0	3466	MELANOMA	-	-	-	-	MFNG	ENST00000356998,p.K50R|NM_001166343,p.K50R|NM_002405,p.K50R|uc011anj.2,p.K50R|uc003ass.2,p.K50R|ENST00000416983,p.K50R|ENST00000424765,p.K50R|ENST00000438891,p.K50R|ENST00000430411,p.K50R	retained_intron, protein_coding, nonsense_mediated_decay	uc011anj.2	nonsynonymous SNV	exon1	c.A149G	p.K50R	TPELSQPNPGPPKLQLHDVFIAVKT	TPELSQPNPGPPRLQLHDVFIAVKT	4.0	4.0	unscreened	-	3466_22:37882067-37882067 T>C_TPELSQPNPGPPRLQLHDVFIAVKT
6:135250253-135250253 C>T	0.0	3466	MELANOMA	-	-	-	-	ALDH8A1	uc003qew.3,p.G317D|ENST00000367847,p.G267D|uc011ecx.2,p.G267D|NM_001193480,p.G267D|NM_022568,p.G317D|ENST00000265605,p.G317D	protein_coding, nonsense_mediated_decay	uc011ecx.2	nonsynonymous SNV	exon5	c.G800A	p.G267D	KRFVEATRKWKVGIPSDPLVSIGAL	KRFVEATRKWKVDIPSDPLVSIGAL	1.0	9.0	unscreened	-	3466_6:135250253-135250253 C>T_KRFVEATRKWKVDIPSDPLVSIGAL
2:44051484-44051484 T>A	0.0	3466	MELANOMA	-	-	-	-	ABCG5	uc002rto.3,p.K160I|ENST00000260645,p.K331I|uc002rtn.3,p.K331I|ENST00000405322,p.K160I|NM_022436,p.K331I	protein_coding, nonsense_mediated_decay	uc002rto.3	nonsynonymous SNV	exon5	c.A479T	p.K160I	SKRVQMIESAYKKSAICHKTLKNIE	SKRVQMIESAYKISAICHKTLKNIE	1.0	3.0	unscreened	-	3466_2:44051484-44051484 T>A_SKRVQMIESAYKISAICHKTLKNIE
10:49996653-49996653 C>T	0.0	3466	MELANOMA	-	-	-	-	WDFY4	uc001jha.4,p.S1296F|NM_020945,p.S1296F|ENST00000325239,p.S1296F	protein_coding, processed_transcript	uc001jha.4	nonsynonymous SNV	exon21	c.C3887T	p.S1296F	ERVSFGLHIASSSITSVADIRNAYN	ERVSFGLHIASSFITSVADIRNAYN	4.0	6.0	unscreened	-	3466_10:49996653-49996653 C>T_ERVSFGLHIASSFITSVADIRNAYN
16:9943704-9943704 C>T	0.0	3466	MELANOMA	-	-	-	1	GRIN2A	uc002czo.4,p.E413K|ENST00000404927,p.E413K|uc010uym.2,p.E413K|uc002czr.4,p.E413K|ENST00000396575,p.E413K|NM_001134408,p.E413K|ENST00000396573,p.E413K|uc010uyn.2,p.E256K|ENST00000330684,p.E413K|ENST00000562109,p.E413K|ENST00000535259,p.E256K|NM_001134407,p.E413K|NM_000833,p.E413K	retained_intron, protein_coding, processed_transcript	uc010uyn.2	nonsynonymous SNV	exon4	c.G766A	p.E256K	PDDNHLSIVTLEEAPFVIVEDIDPL	PDDNHLSIVTLEKAPFVIVEDIDPL	1.0	1.0	unscreened	-	3466_16:9943704-9943704 C>T_PDDNHLSIVTLEKAPFVIVEDIDPL
12:113313531-113313531 C>T	0.0	3466	MELANOMA	-	-	-	-	RPH3A	ENST00000420983,p.P311S|uc010syl.2,p.P311S|uc001ttz.3,p.P311S|uc009zwe.1,p.P307S|ENST00000389385,p.P311S|ENST00000543106,p.P311S|ENST00000551052,p.P307S|uc010sym.2,p.P262S|uc001tua.3,p.P71S|ENST00000415485,p.P311S|ENST00000548866,p.P262S|ENST00000447659,p.P262S|uc001tty.3,p.P307S|NM_014954,p.P307S|NM_001143854,p.P311S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sym.2	nonsynonymous SNV	exon10	c.C784T	p.P262S	GSRPGPGPAGRFPDQKPEVAPSDPG	GSRPGPGPAGRFSDQKPEVAPSDPG	1.0	9.0	unscreened	-	3466_12:113313531-113313531 C>T_GSRPGPGPAGRFSDQKPEVAPSDPG
8:125131868-125131868 C>T	0.0	3466	MELANOMA	-	-	-	-	FER1L6	ENST00000522917,p.S1804L|NM_001039112,p.S1804L|ENST00000399018,p.S1804L|uc003yqw.3,p.S1804L	protein_coding	uc003yqw.3	nonsynonymous SNV	exon41	c.C5411T	p.S1804L	PLAKPNRPDTSFSWFMSPFKCLYYL	PLAKPNRPDTSFLWFMSPFKCLYYL	1.0	2.0	unscreened	-	3466_8:125131868-125131868 C>T_PLAKPNRPDTSFLWFMSPFKCLYYL
3:118865982-118865982 G>A	0.0	3466	MELANOMA	-	-	ID=COSM580819;OCCURENCE=1(lung)	-	C3orf30	ENST00000295622,p.E316K|uc003ecb.1,p.E316K|NM_152539,p.E316K|uc011biw.1,p.E316K|ENST00000494105,p.E316K	protein_coding, processed_transcript	uc011biw.1	nonsynonymous SNV	exon1	c.G946A	p.E316K	VKTHHQVYGQATELAEHQAIDQAHS	VKTHHQVYGQATKLAEHQAIDQAHS	1.0	4.0	unscreened	-	3466_3:118865982-118865982 G>A_VKTHHQVYGQATKLAEHQAIDQAHS
10:50118289-50118289 G>A	0.0	3466	MELANOMA	-	-	-	-	LRRC18	ENST00000374160,p.S260F|NM_001006939,p.S260F|uc001jhd.3,p.S260F	protein_coding	uc001jhd.3	nonsynonymous SNV	exon2	c.C779T	p.S260F	KDSWEDWRIRLTSS	KDSWEDWRIRLTFS	1.0	2.0	unscreened	-	3466_10:50118289-50118289 G>A_KDSWEDWRIRLTFS
6:49456144-49456144 T>C	1.0	3466	MELANOMA	-	-	-	-	CENPQ	uc003ozh.1,p.L186P|ENST00000335783,p.L186P|NM_018132,p.L186P	protein_coding	uc003ozh.1	nonsynonymous SNV	exon7	c.T557C	p.L186P	GNIQSLKNKIQILASEVEEEEERVK	GNIQSLKNKIQIPASEVEEEEERVK	4.0	9.0	unscreened	-	3466_6:49456144-49456144 T>C_GNIQSLKNKIQIPASEVEEEEERVK
11:56043428-56043428 C>T	0.0	3466	MELANOMA	-	-	-	-	OR5T1	uc001nio.1,p.S105L|NM_001004745,p.S105L|ENST00000313033,p.S105L	protein_coding	uc001nio.1	nonsynonymous SNV	exon1	c.C314T	p.S105L	MLVNFLAKNKSISFLGCATQMFLAC	MLVNFLAKNKSILFLGCATQMFLAC	1.0	4.0	unscreened	-	3466_11:56043428-56043428 C>T_MLVNFLAKNKSILFLGCATQMFLAC
3:100949927-100949927 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1693094;OCCURENCE=1(skin)	-	IMPG2	NM_016247,p.P1099L|uc003duq.2,p.P1099L|uc011bhe.2,p.P962L|ENST00000193391,p.P1099L	protein_coding	uc011bhe.2	nonsynonymous SNV	exon15	c.C2885T	p.P962L	YRGKHCEEFVSEPVIIGITIASVVG	YRGKHCEEFVSELVIIGITIASVVG	1.0	5.0	unscreened	-	3466_3:100949927-100949927 G>A_YRGKHCEEFVSELVIIGITIASVVG
2:31588858-31588858 C>T	0.0	3466	MELANOMA	-	-	-	-	XDH	uc002rnv.1,p.A814T|ENST00000379416,p.A814T|NM_000379,p.A814T	protein_coding, processed_transcript	uc002rnv.1	nonsynonymous SNV	exon22	c.G2440A	p.A814T	KETRSTVVSTAVALAAYKTGRPVRC	KETRSTVVSTAVTLAAYKTGRPVRC	1.0	8.0	unscreened	-	3466_2:31588858-31588858 C>T_KETRSTVVSTAVTLAAYKTGRPVRC
1:190423866-190423866 C>T	0.0	3466	MELANOMA	-	-	-	-	BRINP3	uc001gse.1,p.G52E|ENST00000367462,p.G52E|ENST00000445957,p.G52E|NM_199051,p.G52E	protein_coding, processed_transcript	uc001gse.1	nonsynonymous SNV	exon2	c.G155A	p.G52E	ATSPFDWLLSDKGPFHRSQEYTDFV	ATSPFDWLLSDKEPFHRSQEYTDFV	1.0	2.0	unscreened	-	3466_1:190423866-190423866 C>T_ATSPFDWLLSDKEPFHRSQEYTDFV
3:38739937-38739937 C>T	0.0	3466	MELANOMA	-	-	-	-	SCN10A	uc003ciq.3,p.G1592R|NM_001293306,p.G1591R|NM_006514,p.G1592R|NM_001293307,p.G1494R|ENST00000449082,p.G1592R	protein_coding	uc003ciq.3	nonsynonymous SNV	exon27	c.G4774A	p.G1592R	IGRILRLIRAAKGIRTLLFALMMSL	IGRILRLIRAAKRIRTLLFALMMSL	1.0	6.0	unscreened	-	3466_3:38739937-38739937 C>T_IGRILRLIRAAKRIRTLLFALMMSL
6:29141485-29141485 G>A	0.0	3466	MELANOMA	-	-	-	-	OR2J2	uc011dlm.2,p.E25K|ENST00000377167,p.E25K|NM_030905,p.E25K	protein_coding	uc011dlm.2	nonsynonymous SNV	exon1	c.G73A	p.E25K	FILLGFSNWPQLEVVLFVVILIFYL	FILLGFSNWPQLKVVLFVVILIFYL	1.0	9.0	unscreened	-	3466_6:29141485-29141485 G>A_FILLGFSNWPQLKVVLFVVILIFYL
19:4218059-4218059 G>A	0.0	3466	MELANOMA	-	-	-	-	ANKRD24	ENST00000600132,p.E968K|uc002lzt.2,p.E940K|uc010dtt.1,p.E968K|ENST00000318934,p.E968K|NM_133475,p.E968K|ENST00000262970,p.E1058K|uc002lzs.2,p.E939K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dtt.1	nonsynonymous SNV	exon18	c.G2902A	p.E968K	RERVCSVALSEHERIVGTLQANVAQ	RERVCSVALSEHKRIVGTLQANVAQ	2.0	1.0	unscreened	-	3466_19:4218059-4218059 G>A_RERVCSVALSEHKRIVGTLQANVAQ
3:121838341-121838341 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1037078;OCCURENCE=1(endometrium)	-	CD86	ENST00000469710,p.S235L|ENST00000330540,p.S317L|uc021xcz.1,p.S263L|NM_175862,p.S317L|NM_176892,p.S263L|uc011bjp.2,p.S205L|NM_001206925,p.S235L|ENST00000493101,p.S205L|NM_006889,p.S311L|NM_001206924,p.S205L|ENST00000393627,p.S311L|uc003eeu.3,p.S311L|uc003eet.3,p.S317L|ENST00000264468,p.S104L|uc011bjo.2,p.S235L	retained_intron, protein_coding, processed_transcript	uc021xcz.1	nonsynonymous SNV	exon6	c.C788T	p.S263L	ERSDEAQRVFKSSKTSSCDKSDTCF	ERSDEAQRVFKSLKTSSCDKSDTCF	7.0	8.0	unscreened	-	3466_3:121838341-121838341 C>T_ERSDEAQRVFKSLKTSSCDKSDTCF
1:62728920-62728920 G>A	0.0	3466	MELANOMA	-	-	-	-	KANK4	ENST00000354381,p.P167S|uc001dai.4,p.P167S|ENST00000371150,p.P151S|NM_181712,p.P795S|uc001dah.4,p.P795S|ENST00000371153,p.P795S|uc001dag.4,p.P151S	protein_coding	uc001dai.4	nonsynonymous SNV	exon6	c.C499T	p.P167S	EWFRVSSRKSSSPAVVASYLHEVQP	EWFRVSSRKSSSSAVVASYLHEVQP	2.0	1.0	unscreened	-	3466_1:62728920-62728920 G>A_EWFRVSSRKSSSSAVVASYLHEVQP
6:117622221-117622221 A>C	0.0	3466	MELANOMA	-	-	-	1	ROS1	NM_002944,p.L2217V|ENST00000368507,p.L2211V|ENST00000368508,p.L2217V|uc003pxp.1,p.L2217V	protein_coding	uc003pxp.1	nonsynonymous SNV	exon42	c.T6649G	p.L2217V	RPTFHRIQDQLQLFRNFFLNSIYKS	RPTFHRIQDQLQVFRNFFLNSIYKS	1.0	9.0	unscreened	-	3466_6:117622221-117622221 A>C_RPTFHRIQDQLQVFRNFFLNSIYKS
6:32023708-32023708 G>A	0.0	3466	MELANOMA	-	-	-	-	TNXB	ENST00000375244,p.P2796L|NM_019105,p.P2796L|uc003nzl.2,p.P2796L|ENST00000375247,p.P2796L	retained_intron, protein_coding	uc003nzl.2	nonsynonymous SNV	exon24	c.C8387T	p.P2796L	GEESEVTVGGLEPGRKYKMHLYGLH	GEESEVTVGGLELGRKYKMHLYGLH	3.0	9.0	unscreened	-	3466_6:32023708-32023708 G>A_GEESEVTVGGLELGRKYKMHLYGLH
1:169094161-169094161 C>T	1.0	3466	MELANOMA	-	-	ID=COSM1689122;OCCURENCE=1(skin)	-	ATP1B1	NM_001677,p.S89F|uc001gfr.1,p.S89F|ENST00000499679,p.S33F|ENST00000367815,p.S89F|ENST00000367816,p.S89F|ENST00000367813,p.S81F	protein_coding, processed_transcript	uc001gfr.1	nonsynonymous SNV	exon3	c.C266T	p.S89F	LTQIPQIQKTEISFRPNDPKSYEAY	LTQIPQIQKTEIFFRPNDPKSYEAY	10.0	2.0	-	-	3466_1:169094161-169094161 C>T_LTQIPQIQKTEIFFRPNDPKSYEAY
16:71094430-71094430 G>A	0.0	3466	MELANOMA	-	-	-	-	HYDIN	ENST00000538248,p.P863S|NM_017558,p.P836S|uc021tkq.2,p.P836S|ENST00000541601,p.P853S|uc010vmd.2,p.P863S|uc031qwy.1,p.P836S|ENST00000393567,p.P836S|ENST00000321489,p.P836S|ENST00000448089,p.P836S|ENST00000393552,p.P454S|NM_001270974,p.P836S|uc010cfz.2,p.P581S|NM_001198542,p.P863S|NM_001198543,p.P853S|uc010vmc.2,p.P853S|ENST00000448691,p.P836S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon18	c.C2506T	p.P836S	SRILNLCNQSFIPAFFQAHMAHKKS	SRILNLCNQSFISAFFQAHMAHKKS	3.0	3.0	unscreened	-	3466_16:71094430-71094430 G>A_SRILNLCNQSFISAFFQAHMAHKKS
10:129871724-129871724 G>A	1.0	3466	MELANOMA	-	-	-	-	PTPRE	uc001lkb.3,p.E530K|ENST00000306042,p.E472K|ENST00000254667,p.E530K|uc001lkd.3,p.E472K|NM_006504,p.E530K|uc010quq.1,p.E431K|NM_130435,p.E472K|uc009yat.3,p.E541K|uc009yau.2,p.E530K|ENST00000419012,p.E530K	protein_coding, processed_transcript	uc010quq.1	nonsynonymous SNV	exon12	c.G1291A	p.E431K	KSHTIVMLTEVQEREQDKCYQYWPT	KSHTIVMLTEVQKREQDKCYQYWPT	10.0	6.0	unscreened	-	3466_10:129871724-129871724 G>A_KSHTIVMLTEVQKREQDKCYQYWPT
8:105260939-105260939 C>T	0.0	3466	MELANOMA	-	-	ID=COSM136678,COSM136677;OCCURENCE=1(skin)	-	RIMS2	ENST00000339750,p.P99S|uc003ylw.2,p.P1170S|uc003yls.3,p.P1181S|ENST00000507740,p.P977S|ENST00000262231,p.P1002S|uc003ylq.3,p.P977S|uc003ylr.3,p.P1002S|NM_001100117,p.P1163S|ENST00000523362,p.P99S|ENST00000436393,p.P1181S|NM_001282881,p.P1002S|ENST00000406091,p.P1163S|uc003ylp.3,p.P1163S|ENST00000408894,p.P1170S|NM_001282882,p.P99S|NM_014677,p.P977S	retained_intron, protein_coding, processed_transcript	uc003ylw.2	nonsynonymous SNV	exon24	c.C3508T	p.P1170S	MNSYSSEGNLIFPGVRLASDSQFSD	MNSYSSEGNLIFSGVRLASDSQFSD	1.0	9.0	unscreened	-	3466_8:105260939-105260939 C>T_MNSYSSEGNLIFSGVRLASDSQFSD
5:118969918-118969918 G>A	0.0	3466	MELANOMA	-	-	-	-	FAM170A	NM_182761,p.E159K|uc003ksn.3,p.E159K|ENST00000335286,p.E159K|NM_001163991,p.E112K|uc003ksm.2,p.E159K|ENST00000504819,p.E112K|uc003kso.3,p.E112K|ENST00000379555,p.E112K|ENST00000515256,p.E159K	protein_coding, nonsense_mediated_decay	uc003kso.3	nonsynonymous SNV	exon2	c.G334A	p.E112K	ETLESLEKQPRMEEVTLSEVVRVGT	ETLESLEKQPRMKEVTLSEVVRVGT	1.0	9.0	unscreened	-	3466_5:118969918-118969918 G>A_ETLESLEKQPRMKEVTLSEVVRVGT
6:29408358-29408358 G>T	0.0	3466	MELANOMA	-	-	-	-	OR10C1	ENST00000444197,p.G189V|NM_013941,p.G189V|uc011dlp.2,p.G189V	protein_coding	uc011dlp.2	nonsynonymous SNV	exon1	c.G566T	p.G189V	FCEIQPVLQLVCGDTSLNELQIILA	FCEIQPVLQLVCVDTSLNELQIILA	1.0	9.0	unscreened	-	3466_6:29408358-29408358 G>T_FCEIQPVLQLVCVDTSLNELQIILA
1:47515764-47515764 G>A	0.0	3466	MELANOMA	-	-	-	-	CYP4X1	ENST00000538609,p.R482K|uc001cqs.3,p.R418K|ENST00000371901,p.R483K|NM_178033,p.R483K|uc001cqt.3,p.R483K|uc001cqr.3,p.R482K	protein_coding, processed_transcript	uc001cqt.3	nonsynonymous SNV	exon12	c.G1448A	p.R483K	ILLHFRVTPDPTRPLTFPNHFILKP	ILLHFRVTPDPTKPLTFPNHFILKP	1.0	1.0	unscreened	-	3466_1:47515764-47515764 G>A_ILLHFRVTPDPTKPLTFPNHFILKP
11:48347247-48347247 C>T	0.0	3466	MELANOMA	-	-	-	-	OR4C3	NM_001004702,p.S252F|uc010rhv.2,p.S252F|ENST00000319856,p.S252F	protein_coding	uc010rhv.2	nonsynonymous SNV	exon1	c.C755T	p.S252F	AASYIVILYSLRSHSADGRCKALST	AASYIVILYSLRFHSADGRCKALST	1.0	3.0	unscreened	-	3466_11:48347247-48347247 C>T_AASYIVILYSLRFHSADGRCKALST
8:110530540-110530540 C>T	0.0	3466	MELANOMA	-	-	-	-	PKHD1L1	ENST00000526472,p.S873F|uc003yne.3,p.S3945F|NM_177531,p.S3945F|ENST00000378402,p.S3945F	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon73	c.C11834T	p.S3945F	HTATVIFVSFQLSVATEDDFYTSHN	HTATVIFVSFQLFVATEDDFYTSHN	1.0	9.0	unscreened	-	3466_8:110530540-110530540 C>T_HTATVIFVSFQLFVATEDDFYTSHN
1:21887203-21887203 A>G	0.0	3466	MELANOMA	-	-	-	-	ALPL	uc010odn.2,p.T11A	protein_coding, processed_transcript	uc010odn.2	nonsynonymous SNV	exon3	c.A31G	p.T11A	MPWSFRSSTPTWLRMSSCSWEMG	MPWSFRSSTPAWLRMSSCSWEMG	3.0	7.0	unscreened	-	3466_1:21887203-21887203 A>G_MPWSFRSSTPAWLRMSSCSWEMG
1:21887203-21887203 A>G	0.0	3466	MELANOMA	-	-	-	-	ALPL	NM_001177520,p.T11A|uc010odp.2,p.T11A|ENST00000539907,p.T11A	protein_coding, processed_transcript	uc010odp.2	nonsynonymous SNV	exon2	c.A31G	p.T11A	MPWSFRSSTPTWLRMSSCSWEMT	MPWSFRSSTPAWLRMSSCSWEMT	3.0	7.0	unscreened	-	3466_1:21887203-21887203 A>G_MPWSFRSSTPAWLRMSSCSWEMT
3:124393248-124393248 C>T	0.0	3466	MELANOMA	-	-	-	-	KALRN	ENST00000393496,p.A667V|ENST00000428018,p.A598V|NM_001024660,p.A2327V|ENST00000459915,p.A418V|ENST00000360013,p.A2327V|uc003ehi.3,p.A667V|uc003ehg.3,p.A2327V|NM_007064,p.A630V|ENST00000291478,p.A630V|uc011bjz.2,p.A418V|uc003ehk.3,p.A630V	retained_intron, protein_coding, processed_transcript	uc011bjz.2	nonsynonymous SNV	exon13	c.C1253T	p.A418V	NDLGGCNGTSSMAVIKDYYALKENE	NDLGGCNGTSSMVVIKDYYALKENE	6.0	7.0	unscreened	-	3466_3:124393248-124393248 C>T_NDLGGCNGTSSMVVIKDYYALKENE
19:54313358-54313358 C>T	0.0	3466	MELANOMA	-	-	-	-	NLRP12	ENST00000391773,p.E519K|NM_144687,p.E519K|uc002qch.5,p.E519K|ENST00000535162,p.E519K|ENST00000324134,p.E519K|NM_001277129,p.E519K|ENST00000391772,p.E519K|ENST00000354278,p.E519K|ENST00000351894,p.E519K|uc010eqx.4,p.E519K|ENST00000345770,p.E519K|ENST00000391775,p.E519K|uc002qcj.5,p.E519K|uc002qci.5,p.E519K|NM_001277126,p.E519K	retained_intron, protein_coding	uc010eqx.4	nonsynonymous SNV	exon3	c.G1555A	p.E519K	ERYYSFIHLSFQEFFAAMYYILDEG	ERYYSFIHLSFQKFFAAMYYILDEG	1.0	8.0	unscreened	-	3466_19:54313358-54313358 C>T_ERYYSFIHLSFQKFFAAMYYILDEG
12:49445335-49445335 G>T	0.0	3466	MELANOMA	-	-	-	1	KMT2D	uc001rta.4,p.P711T|ENST00000301067,p.P711T|NM_003482,p.P711T	retained_intron, protein_coding, processed_transcript	uc001rta.4	nonsynonymous SNV	exon10	c.C2131A	p.P711T	SPPPEDSPASPPPEDSLMSLPLEES	SPPPEDSPASPPTEDSLMSLPLEES	8.0	9.0	-	-	3466_12:49445335-49445335 G>T_SPPPEDSPASPPTEDSLMSLPLEES
3:42742276-42742276 A>T	0.0	3466	MELANOMA	-	-	-	-	HHATL	ENST00000417472,p.Y15N|ENST00000457462,p.Y15N|ENST00000441594,p.Y15N|ENST00000310417,p.Y15N|ENST00000455195,p.Y15N|uc003clx.3,p.Y15N|ENST00000442469,p.Y15N|NM_020707,p.Y15N|ENST00000416756,p.Y15N|uc003clw.3,p.Y15N	retained_intron, protein_coding	uc003clx.3	nonsynonymous SNV	exon2	c.T43A	p.Y15N	IKTALPAAELGLYSLVLSGALAYAG	IKTALPAAELGLNSLVLSGALAYAG	1.0	6.0	unscreened	-	3466_3:42742276-42742276 A>T_IKTALPAAELGLNSLVLSGALAYAG
17:72519730-72519730 C>T	0.0	3466	MELANOMA	-	-	-	-	CD300LB	NM_174892,p.G144D|uc002jkx.2,p.G181D|ENST00000392621,p.G181D	protein_coding	uc002jkx.2	nonsynonymous SNV	exon3	c.G542A	p.G181D	SSPTNSNMAVFIGSHKRNHYMLLVF	SSPTNSNMAVFIDSHKRNHYMLLVF	2.0	9.0	unscreened	-	3466_17:72519730-72519730 C>T_SSPTNSNMAVFIDSHKRNHYMLLVF
3:124418847-124418847 G>A	0.0	3466	MELANOMA	0.0009	-	-	-	KALRN	uc003ehg.3,p.E2655K|ENST00000291478,p.E958K|ENST00000428018,p.E926K|uc003ehk.3,p.E958K|NM_007064,p.E958K|ENST00000360013,p.E2655K|NM_001024660,p.E2655K	retained_intron, protein_coding, processed_transcript	uc003ehk.3	nonsynonymous SNV	exon23	c.G2872A	p.E958K	SASNPWGISLPSEPSEFVRLPEYDA	SASNPWGISLPSKPSEFVRLPEYDA	6.0	5.0	unscreened	-	3466_3:124418847-124418847 G>A_SASNPWGISLPSKPSEFVRLPEYDA
8:87242056-87242056 G>A	0.0	3466	MELANOMA	-	-	-	-	SLC7A13	ENST00000419776,p.R151C|NM_138817,p.R151C|ENST00000297524,p.R151C|uc003ydq.1,p.R151C|uc003ydr.1,p.R151C	protein_coding, processed_transcript	uc003ydr.1	nonsynonymous SNV	exon1	c.C451T	p.R151C	LAMLWIVGILTSRGVKEVTWLQIAS	LAMLWIVGILTSCGVKEVTWLQIAS	1.0	2.0	unscreened	-	3466_8:87242056-87242056 G>A_LAMLWIVGILTSCGVKEVTWLQIAS
1:204226488-204226488 G>A	0.0	3466	MELANOMA	-	-	-	-	PLEKHA6	uc009xay.1,p.S130F	protein_coding, processed_transcript	uc009xay.1	nonsynonymous SNV	exon1	c.C389T	p.S130F	DPAAYVMRRSISSPKMSESETLISM	DPAAYVMRRSISFPKMSESETLISM	1.0	2.0	unscreened	-	3466_1:204226488-204226488 G>A_DPAAYVMRRSISFPKMSESETLISM
19:4237053-4237053 C>T	0.0	3466	MELANOMA	-	-	-	-	EBI3	NM_005755,p.P220S|uc002lzu.3,p.P220S|ENST00000221847,p.P220S	retained_intron, protein_coding	uc002lzu.3	nonsynonymous SNV	exon5	c.C658T	p.P220S	LTDYGELSDWSLPATATMSLGK	LTDYGELSDWSLSATATMSLGK	3.0	7.0	unscreened	-	3466_19:4237053-4237053 C>T_LTDYGELSDWSLSATATMSLGK
4:47953385-47953385 C>T	0.0	3466	MELANOMA	-	-	-	-	CNGA1	ENST00000514520,p.G74E|ENST00000513178,p.G74E|ENST00000544810,p.G74E|ENST00000358519,p.G74E|uc003gxu.3,p.G143E|NM_001142564,p.G143E|ENST00000420489,p.G74E|uc003gxv.1,p.G74E|ENST00000504722,p.G74E|NM_000087,p.G74E|uc003gxt.4,p.G74E|ENST00000514170,p.G74E|ENST00000402813,p.G143E	retained_intron, protein_coding	uc003gxv.1	nonsynonymous SNV	exon5	c.G221A	p.G74E	ARGSFSYKSLRKGGPSQREQYLPGA	ARGSFSYKSLRKEGPSQREQYLPGA	2.0	9.0	unscreened	-	3466_4:47953385-47953385 C>T_ARGSFSYKSLRKEGPSQREQYLPGA
3:48685809-48685809 G>A	1.0	3466	MELANOMA	-	-	-	-	CELSR3	uc003cuf.1,p.S2358F|uc010hkg.3,p.S271F|ENST00000164024,p.S2288F|NM_001407,p.S2288F|ENST00000544264,p.S2293F|uc003cul.3,p.S2288F	retained_intron, protein_coding	uc010hkg.3	nonsynonymous SNV	exon9	c.C812T	p.S271F	LWAALGQRAPGGSPGSAGLVRHLEE	LWAALGQRAPGGFPGSAGLVRHLEE	4.0	1.0	unscreened	-	3466_3:48685809-48685809 G>A_LWAALGQRAPGGFPGSAGLVRHLEE
X:24597532-24597532 C>T	0.0	3466	MELANOMA	-	-	-	-	PCYT1B	ENST00000496020,p.R151Q	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000496020	nonsynonymous SNV	exon5	c.G452A	p.R151Q	SFQRREQKASQHRTSLPELFVTMMF	SFQRREQKASQHQTSLPELFVTMMF	2.0	9.0	unscreened	-	3466_X:24597532-24597532 C>T_SFQRREQKASQHQTSLPELFVTMMF
16:20043378-20043378 C>T	0.0	3466	MELANOMA	-	-	-	-	GPR139	uc002dgu.1,p.M247I|ENST00000570682,p.M247I|NM_001002911,p.M247I|uc010vaw.1,p.M154I	protein_coding, nonsense_mediated_decay	uc010vaw.1	nonsynonymous SNV	exon3	c.G462A	p.M154I	SIFATLWAPRIIMILYHLYGAPIQN	SIFATLWAPRIIIILYHLYGAPIQN	1.0	7.0	unscreened	-	3466_16:20043378-20043378 C>T_SIFATLWAPRIIIILYHLYGAPIQN
19:42083902-42083902 C>T	0.0	3466	MELANOMA	-	-	-	-	CEACAM21	ENST00000457737,p.R139C	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000457737	nonsynonymous SNV	exon2	c.C415T	p.R139C	RNSQIEQASHHLRVYGECSKFDSEI	RNSQIEQASHHLCVYGECSKFDSEI	4.0	8.0	unscreened	-	3466_19:42083902-42083902 C>T_RNSQIEQASHHLCVYGECSKFDSEI
12:91348057-91348057 G>A	0.0	3466	MELANOMA	0.0014	-	ID=COSM84185;OCCURENCE=2(pancreas)	-	CCER1	uc001tbj.3,p.R155C|ENST00000358859,p.R155C|NM_152638,p.R155C	protein_coding, processed_transcript, nonsense_mediated_decay	uc001tbj.3	nonsynonymous SNV	exon1	c.C463T	p.R155C	WGRRGRGLRHHPRHSYPRSPPADVS	WGRRGRGLRHHPCHSYPRSPPADVS	1.0	9.0	unscreened	-	3466_12:91348057-91348057 G>A_WGRRGRGLRHHPCHSYPRSPPADVS
6:132006504-132006504 G>A	0.0	3466	MELANOMA	-	-	-	-	ENPP3	uc003qcu.4,p.G374E|uc003qcv.3,p.G374E|ENST00000414305,p.G374E|ENST00000358229,p.G374E|ENST00000357639,p.G374E|NM_005021,p.G374E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003qcv.3	nonsynonymous SNV	exon13	c.G1121A	p.G374E	HNCVNIILLADHGMDQTYCNKMEYM	HNCVNIILLADHEMDQTYCNKMEYM	1.0	9.0	unscreened	-	3466_6:132006504-132006504 G>A_HNCVNIILLADHEMDQTYCNKMEYM
2:179611589-179611589 C>T	0.0	3466	MELANOMA	-	-	-	-	TTN	ENST00000360870,p.E5180K|uc002unb.3,p.E5180K|NM_133379,p.E5180K	retained_intron, protein_coding	uc002unb.3	nonsynonymous SNV	exon46	c.G15538A	p.E5180K	GTPNEAIEPKDNEMPPSFIEPLTKR	GTPNEAIEPKDNKMPPSFIEPLTKR	5.0	2.0	unscreened	-	3466_2:179611589-179611589 C>T_GTPNEAIEPKDNKMPPSFIEPLTKR
10:91371746-91371746 G>A	1.0	3466	MELANOMA	-	-	-	-	PANK1	uc001kgn.2,p.P30S|ENST00000371774,p.P57S|ENST00000342512,p.P30S|ENST00000307534,p.P255S|uc001kgo.2,p.P30S|uc001kgp.2,p.P255S|NM_138316,p.P30S|NM_148977,p.P255S|uc009xtu.2,p.P57S|NM_148978,p.P30S|ENST00000322191,p.P30S	protein_coding, processed_transcript	uc009xtu.2	nonsynonymous SNV	exon3	c.C169T	p.P57S	IGGTLVKLVYFEPKDITAEEEQEEV	IGGTLVKLVYFESKDITAEEEQEEV	5.0	3.0	unscreened	-	3466_10:91371746-91371746 G>A_IGGTLVKLVYFESKDITAEEEQEEV
11:62951270-62951270 G>A	0.0	3466	MELANOMA	-	-	-	-	SLC22A25	ENST00000525295,p.S141L	protein_coding, nonsense_mediated_decay	ENST00000525295	nonsynonymous SNV	exon2	c.C422T	p.S141L	STIVTKVAGRVCSVAHYQQQTRRGL	STIVTKVAGRVCLVAHYQQQTRRGL	1.0	4.0	unscreened	-	3466_11:62951270-62951270 G>A_STIVTKVAGRVCLVAHYQQQTRRGL
5:176024465-176024465 G>C	1.0	3466	MELANOMA	-	-	-	-	GPRIN1	uc021yif.1,p.R791G|ENST00000303991,p.R791G|NM_052899,p.R791G|uc003meo.1,p.R791G	protein_coding	uc021yif.1	nonsynonymous SNV	exon1	c.C2371G	p.R791G	PEAAAPPPGPRTRDNFTKAPSWEAS	PEAAAPPPGPRTGDNFTKAPSWEAS	4.0	9.0	-	-	3466_5:176024465-176024465 G>C_PEAAAPPPGPRTGDNFTKAPSWEAS
14:99640763-99640763 C>T	0.0	3466	MELANOMA	-	-	-	1	BCL11B	NM_022898,p.V733M|NM_138576,p.V804M|uc001ygb.3,p.V733M|ENST00000443726,p.V610M|ENST00000357195,p.V804M|uc001yga.3,p.V804M|NM_001282237,p.V803M|uc031qqi.1,p.V732M|uc031qqh.1,p.V803M|ENST00000345514,p.V733M|NM_001282238,p.V732M	protein_coding	uc031qqi.1	nonsynonymous SNV	exon3	c.G2194A	p.V732M	GRRSDTCEYCGKVFKNCSNLTVHRR	GRRSDTCEYCGKMFKNCSNLTVHRR	3.0	9.0	unscreened	-	3466_14:99640763-99640763 C>T_GRRSDTCEYCGKMFKNCSNLTVHRR
22:40417404-40417404 A>C	0.0	3466	MELANOMA	-	-	-	-	FAM83F	ENST00000333407,p.E297A|uc003ayk.1,p.E297A|NM_138435,p.E297A	protein_coding, processed_transcript	uc003ayk.1	nonsynonymous SNV	exon4	c.A890C	p.E297A	DTEFRELYAISEEVDLYRQLSLAGR	DTEFRELYAISEAVDLYRQLSLAGR	1.0	4.0	unscreened	-	3466_22:40417404-40417404 A>C_DTEFRELYAISEAVDLYRQLSLAGR
2:179571649-179571649 C>T	0.0	3466	MELANOMA	-	-	-	-	TTN	uc031rqc.1,p.A9692T|NM_001267550,p.A9692T|ENST00000591111,p.A9375T|NM_133378,p.A8448T|uc021vsy.2,p.A8448T|uc002umz.1,p.A5109T|ENST00000589042,p.A9692T|ENST00000342992,p.A8448T|uc031rqd.1,p.A9375T|NM_001256850,p.A9375T	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon99	c.G28123A	p.A9375T	KDKPAVAPATKKAAVDGRLFFVSEP	KDKPAVAPATKKTAVDGRLFFVSEP	5.0	7.0	unscreened	-	3466_2:179571649-179571649 C>T_KDKPAVAPATKKTAVDGRLFFVSEP
19:40354475-40354475 G>A	0.0	3466	MELANOMA	-	-	-	-	FCGBP	uc002omp.4,p.R5332C|ENST00000221347,p.R5332C|NM_003890,p.R5332C	protein_coding, processed_transcript	uc002omp.4	nonsynonymous SNV	exon35	c.C15994T	p.R5332C	LPAEKLASVSVSRTPDGSLLVRQKA	LPAEKLASVSVSCTPDGSLLVRQKA	3.0	1.0	unscreened	-	3466_19:40354475-40354475 G>A_LPAEKLASVSVSCTPDGSLLVRQKA
19:50764888-50764888 C>T	1.0	3466	MELANOMA	-	-	-	-	MYH14	uc010enu.1,p.R861C|ENST00000440075,p.R861C|ENST00000598205,p.R828C|ENST00000425460,p.R828C|NM_024729,p.R820C|ENST00000376970,p.R853C|uc002prq.1,p.R828C|NM_001145809,p.R861C|uc002prr.1,p.R820C|ENST00000596571,p.R820C|ENST00000599920,p.R828C|ENST00000262269,p.R861C|NM_001077186,p.R828C|ENST00000601313,p.R861C	retained_intron, protein_coding	uc010enu.1	nonsynonymous SNV	exon21	c.C2581T	p.R861C	VSFQAAARGYLARRAFQKRQQQQSA	VSFQAAARGYLACRAFQKRQQQQSA	6.0	2.0	unscreened	-	3466_19:50764888-50764888 C>T_VSFQAAARGYLACRAFQKRQQQQSA
22:28410240-28410240 T>A	0.0	3466	MELANOMA	-	-	-	-	TTC28	NM_001145418,p.E1405V|uc003adp.4,p.E1405V|ENST00000397906,p.E1405V	retained_intron, protein_coding, processed_transcript	uc003adp.4	nonsynonymous SNV	exon14	c.A4214T	p.E1405V	LRALYDLLIAPMEGGLMHSSGPVGR	LRALYDLLIAPMVGGLMHSSGPVGR	4.0	7.0	unscreened	-	3466_22:28410240-28410240 T>A_LRALYDLLIAPMVGGLMHSSGPVGR
1:164790786-164790786 C>T	0.0	3466	MELANOMA	-	-	-	1	PBX1	uc001gct.3,p.R375C|uc010pku.2,p.R375C|ENST00000540246,p.R270C|NM_002585,p.R375C|ENST00000540236,p.R375C|ENST00000420696,p.R375C|NM_001204963,p.R375C|uc010pkv.2,p.R292C|uc010pkw.1,p.R265C|ENST00000560641,p.R270C	retained_intron, protein_coding, processed_transcript	uc010pkw.1	nonsynonymous SNV	exon7	c.C793T	p.R265C	VGANVQSQVDTLRHVISQTGGYSDG	VGANVQSQVDTLCHVISQTGGYSDG	3.0	2.0	unscreened	-	3466_1:164790786-164790786 C>T_VGANVQSQVDTLCHVISQTGGYSDG
X:103495543-103495543 C>T	0.0	3466	MELANOMA	-	-	-	-	ESX1	uc004ely.3,p.R196Q|ENST00000372588,p.R196Q|NM_153448,p.R196Q	protein_coding	uc004ely.3	nonsynonymous SNV	exon4	c.G587A	p.R196Q	QVWFQNRRAKWKRNQRVLMLRNTAT	QVWFQNRRAKWKQNQRVLMLRNTAT	1.0	9.0	unscreened	-	3466_X:103495543-103495543 C>T_QVWFQNRRAKWKQNQRVLMLRNTAT
5:140503930-140503930 G>A	1.0	3466	MELANOMA	-	-	ID=COSM110449;OCCURENCE=1(skin)	-	PCDHB4	uc003lip.1,p.E784K|NM_018938,p.E784K|ENST00000194152,p.E784K	protein_coding	uc003lip.1	nonsynonymous SNV	exon1	c.G2350A	p.E784K	NLLVQDTGREVKENPKFRNSLVFS	NLLVQDTGREVKKNPKFRNSLVFS	4.0	9.0	unscreened	-	3466_5:140503930-140503930 G>A_NLLVQDTGREVKKNPKFRNSLVFS
7:141919959-141919959 C>T	0.0	3466	MELANOMA	-	-	-	-	LOC93432	ENST00000477922,p.P1883L|NM_001293626,p.P1883L	retained_intron, protein_coding	NM_001293626	nonsynonymous SNV	exon48	c.C5648T	p.P1883L	VTTNTTVPDTTSPFPTSTTNASTNA	VTTNTTVPDTTSLFPTSTTNASTNA	1.0	1.0	unscreened	-	3466_7:141919959-141919959 C>T_VTTNTTVPDTTSLFPTSTTNASTNA
6:130762249-130762249 G>A	0.0	3466	MELANOMA	-	-	-	-	TMEM200A	ENST00000296978,p.E228K|NM_001258276,p.E228K|ENST00000392429,p.E228K|uc010kfi.4,p.E228K|uc003qcb.3,p.E228K|NM_052913,p.E228K|NM_001258277,p.E228K|NM_001258278,p.E228K|ENST00000545622,p.E228K|uc021zfg.1,p.E228K|uc003qca.4,p.E228K|uc010kfh.4,p.E228K	protein_coding	uc021zfg.1	nonsynonymous SNV	exon1	c.G682A	p.E228K	FRSSFRMDSSVEEDELMLNEGKSSG	FRSSFRMDSSVEKDELMLNEGKSSG	5.0	9.0	unscreened	-	3466_6:130762249-130762249 G>A_FRSSFRMDSSVEKDELMLNEGKSSG
15:51503147-51503147 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1708162;OCCURENCE=1(skin)	-	CYP19A1	NM_000103,p.R457Q|ENST00000396404,p.R457Q|ENST00000260433,p.R457Q|ENST00000396402,p.R457Q|uc001zyz.4,p.R457Q|uc001zza.4,p.R457Q|NM_031226,p.R457Q|ENST00000559878,p.R457Q	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc001zza.4	nonsynonymous SNV	exon10	c.G1370A	p.R457Q	VMMKAILVTLLRRFHVKTLQGQCVE	VMMKAILVTLLRQFHVKTLQGQCVE	1.0	2.0	unscreened	-	3466_15:51503147-51503147 C>T_VMMKAILVTLLRQFHVKTLQGQCVE
1:210415557-210415557 G>A	0.0	3466	MELANOMA	-	-	-	-	SERTAD4	NM_019605,p.D316N|uc009xcw.3,p.D316N|uc001hhy.3,p.D316N|ENST00000367012,p.D316N	protein_coding, processed_transcript	uc009xcw.3	nonsynonymous SNV	exon3	c.G946A	p.D316N	NDLAFECKGQFYDYFETGYNERNNV	NDLAFECKGQFYNYFETGYNERNNV	2.0	2.0	unscreened	-	3466_1:210415557-210415557 G>A_NDLAFECKGQFYNYFETGYNERNNV
X:105197052-105197052 G>A	0.0	3466	MELANOMA	-	-	-	-	NRK	uc011msi.2,p.G95R|NM_198465,p.G1514R|ENST00000428173,p.G1515R|ENST00000540278,p.G95R|ENST00000243300,p.G1514R	protein_coding	uc011msi.2	nonsynonymous SNV	exon3	c.G283A	p.G95R	SSIAFECTQRTTGWGQKAIEVRSLQ	SSIAFECTQRTTRWGQKAIEVRSLQ	1.0	9.0	unscreened	-	3466_X:105197052-105197052 G>A_SSIAFECTQRTTRWGQKAIEVRSLQ
4:106861719-106861719 G>A	0.0	3466	MELANOMA	-	-	-	-	NPNT	NM_001184692,p.R230Q|NM_001184691,p.R260Q|NM_001033047,p.R230Q|uc003hya.3,p.R230Q|ENST00000503451,p.R277Q|uc011cfc.2,p.R247Q|ENST00000427316,p.R260Q|ENST00000305572,p.R230Q|ENST00000379987,p.R230Q|ENST00000514622,p.R230Q|uc011cff.2,p.R230Q|NM_001184690,p.R247Q|ENST00000506666,p.R260Q|uc011cfe.2,p.R260Q|ENST00000453617,p.R247Q|uc011cfd.2,p.R260Q|NM_001184693,p.R260Q	retained_intron, protein_coding, processed_transcript	uc011cff.2	nonsynonymous SNV	exon7	c.G689A	p.R230Q	CSLGQYQCSSFARCYNVRGSYKCKC	CSLGQYQCSSFAQCYNVRGSYKCKC	4.0	5.0	unscreened	Snp within 26 nucleotides, 4:106861730-106861730 A>G, residue 17 I>V PR	3466_4:106861719-106861719 G>A_CSLGQYQCSSFAQCYNVRGSYKCKC
19:54313304-54313304 G>A	0.0	3466	MELANOMA	-	-	-	-	NLRP12	ENST00000351894,p.P537S|uc010eqx.4,p.P537S|uc002qch.5,p.P537S|NM_001277126,p.P537S|ENST00000345770,p.P537S|ENST00000535162,p.P537S|ENST00000324134,p.P537S|ENST00000391772,p.P537S|ENST00000391775,p.P537S|ENST00000354278,p.P537S|ENST00000391773,p.P537S|uc002qci.5,p.P537S|NM_001277129,p.P537S|uc002qcj.5,p.P537S|NM_144687,p.P537S	retained_intron, protein_coding	uc010eqx.4	nonsynonymous SNV	exon3	c.C1609T	p.P537S	YYILDEGEGGAGPDQDVTRLLTEYA	YYILDEGEGGAGSDQDVTRLLTEYA	1.0	1.0	unscreened	-	3466_19:54313304-54313304 G>A_YYILDEGEGGAGSDQDVTRLLTEYA
6:7559614-7559614 G>A	0.0	3466	MELANOMA	-	-	-	-	DSP	uc003mxp.1,p.G193E|NM_004415,p.G193E|ENST00000418664,p.G193E|ENST00000379802,p.G193E|uc021yle.1,p.G193E|NM_001008844,p.G193E|uc003mxq.1,p.G193E	retained_intron, protein_coding	uc021yle.1	nonsynonymous SNV	exon4	c.G578A	p.G193E	DEFTKHVTSECLGWMRQQRAEMDMV	DEFTKHVTSECLEWMRQQRAEMDMV	1.0	9.0	unscreened	-	3466_6:7559614-7559614 G>A_DEFTKHVTSECLEWMRQQRAEMDMV
15:22368579-22368579 G>A	0.0	3466	MELANOMA	-	-	-	-	OR4M2	ENST00000332663,p.E2K|uc010tzu.2,p.E2K|NM_001004719,p.E2K	protein_coding	uc010tzu.2	nonsynonymous SNV	exon1	c.G4A	p.E2K	METANYTKVTEFVL	MKTANYTKVTEFVL	1.0	1.0	unscreened	-	3466_15:22368579-22368579 G>A_MKTANYTKVTEFVL
6:31660880-31660880 G>A	1.0	3466	MELANOMA	-	-	-	-	ABHD16A	ENST00000440843,p.R151C|uc003nvy.2,p.R184C|ENST00000395952,p.R184C|NM_021160,p.R184C|uc011dny.2,p.R151C|NM_001177515,p.R151C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dny.2	nonsynonymous SNV	exon5	c.C451T	p.R151C	RGGPSRRGVALLRPEPLHRGTADTL	RGGPSRRGVALLCPEPLHRGTADTL	6.0	1.0	unscreened	-	3466_6:31660880-31660880 G>A_RGGPSRRGVALLCPEPLHRGTADTL
X:135730470-135730470 G>A	0.0	3466	MELANOMA	-	-	-	-	CD40LG	NM_000074,p.M21I|uc010nsd.3,p.M21I|ENST00000370629,p.M21I|uc004faa.3,p.M21I|ENST00000370628,p.M21I	protein_coding	uc010nsd.3	nonsynonymous SNV	exon1	c.G63A	p.M21I	SPRSAATGLPISMKIFMYLLTVFLI	SPRSAATGLPISIKIFMYLLTVFLI	1.0	9.0	unscreened	-	3466_X:135730470-135730470 G>A_SPRSAATGLPISIKIFMYLLTVFLI
6:84302218-84302218 G>A	0.0	3466	MELANOMA	-	-	ID=COSM3630237,COSM3630236;OCCURENCE=1(ovary)	-	SNAP91	ENST00000521743,p.S629L|NM_001242792,p.S629L|NM_014841,p.S629L|uc021zcf.1,p.S629L|ENST00000521931,p.S442L|ENST00000369694,p.S629L|NM_001256718,p.S510L|ENST00000195649,p.S629L|ENST00000428679,p.S629L|ENST00000439399,p.S629L|ENST00000521485,p.S629L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zcf.1	nonsynonymous SNV	exon20	c.C1886T	p.S629L	DAFAAPSPATTASPAKVDSSGVIDL	DAFAAPSPATTALPAKVDSSGVIDL	1.0	9.0	unscreened	-	3466_6:84302218-84302218 G>A_DAFAAPSPATTALPAKVDSSGVIDL
4:138451253-138451253 G>A	0.0	3466	MELANOMA	-	-	-	-	PCDH18	uc003ihf.4,p.P657S|ENST00000344876,p.P664S|uc003ihg.4,p.P444S|ENST00000507846,p.P444S|NM_001300828,p.P664S|uc003ihe.4,p.P664S|ENST00000412923,p.P664S|NM_019035,p.P664S	protein_coding	uc003ihg.4	nonsynonymous SNV	exon2	c.C1330T	p.P444S	WELSVIIQDKGNPQLHTKVLLKCMI	WELSVIIQDKGNSQLHTKVLLKCMI	5.0	5.0	unscreened	-	3466_4:138451253-138451253 G>A_WELSVIIQDKGNSQLHTKVLLKCMI
3:121976067-121976067 G>A	0.0	3466	MELANOMA	-	-	-	-	CASR	NM_001178065,p.E109K|ENST00000498619,p.E109K|ENST00000490131,p.E109K|uc003eew.4,p.E109K|ENST00000296154,p.E109K|NM_000388,p.E109K|uc003eev.4,p.E109K	retained_intron, protein_coding	uc003eew.4	nonsynonymous SNV	exon3	c.G325A	p.E109K	IFDTCNTVSKALEATLSFVAQNKID	IFDTCNTVSKALKATLSFVAQNKID	1.0	5.0	unscreened	-	3466_3:121976067-121976067 G>A_IFDTCNTVSKALKATLSFVAQNKID
22:18609703-18609703 C>T	0.0	3466	MELANOMA	0.0005	-	-	-	TUBA8	NM_001193414,p.R254W|uc021wkt.1,p.R254W|ENST00000416740,p.R344W|ENST00000316027,p.R254W|uc002znv.2,p.R320W|ENST00000330423,p.R320W|uc002znw.1,p.R344W|NM_018943,p.R320W	protein_coding	uc021wkt.1	nonsynonymous SNV	exon4	c.C760T	p.R254W	RHGKYMACCMLYRGDVVPKDVNVAI	RHGKYMACCMLYWGDVVPKDVNVAI	3.0	1.0	unscreened	-	3466_22:18609703-18609703 C>T_RHGKYMACCMLYWGDVVPKDVNVAI
7:100686030-100686030 C>T	0.0	3466	MELANOMA	-	-	-	-	MUC17	uc003uxp.1,p.S3778F|NM_001040105,p.S3778F|ENST00000379439,p.S3778F|ENST00000306151,p.S3778F	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.C11333T	p.S3778F	TRFPESSTPSIPSVYTSMSMTTASE	TRFPESSTPSIPFVYTSMSMTTASE	1.0	1.0	unscreened	-	3466_7:100686030-100686030 C>T_TRFPESSTPSIPFVYTSMSMTTASE
19:45790920-45790920 C>T	1.0	3466	MELANOMA	-	-	-	-	MARK4	uc002pbc.1,p.P364S	retained_intron, protein_coding, nonsense_mediated_decay	uc002pbc.1	nonsynonymous SNV	exon9	c.C1090T	p.P364S	EIPERRKDSTSTPVSDQGWGAGLGA	EIPERRKDSTSTSVSDQGWGAGLGA	6.0	2.0	unscreened	-	3466_19:45790920-45790920 C>T_EIPERRKDSTSTSVSDQGWGAGLGA
2:88828859-88828859 A>T	0.0	3466	MELANOMA	-	-	-	-	TEX37	NM_152670,p.D137V|ENST00000303254,p.D137V|uc002stb.2,p.D137V	protein_coding	uc002stb.2	nonsynonymous SNV	exon4	c.A410T	p.D137V	QVLQSADFPCLVDPKHQPAAEMAKG	QVLQSADFPCLVVPKHQPAAEMAKG	1.0	3.0	unscreened	-	3466_2:88828859-88828859 A>T_QVLQSADFPCLVVPKHQPAAEMAKG
11:92430609-92430609 G>A	0.0	3466	MELANOMA	-	-	-	2	FAT3	NM_001008781,p.E1223K|ENST00000525166,p.E1073K|ENST00000409404,p.E1223K|uc001pdj.4,p.E1223K|ENST00000298047,p.E1223K	retained_intron, protein_coding, processed_transcript	uc001pdj.4	nonsynonymous SNV	exon3	c.G3667A	p.E1223K	KLDREQQAEHFLEVTVTDGGPSPKQ	KLDREQQAEHFLKVTVTDGGPSPKQ	2.0	6.0	unscreened	-	3466_11:92430609-92430609 G>A_KLDREQQAEHFLKVTVTDGGPSPKQ
18:63489413-63489413 G>A	0.0	3466	MELANOMA	-	-	-	-	CDH7	ENST00000323011,p.G241E|uc002lkb.3,p.G241E|ENST00000536984,p.G241E|uc002lka.3,p.G241E|ENST00000397968,p.G241E|NM_033646,p.G241E|uc002ljz.3,p.G241E|NM_004361,p.G241E	protein_coding, processed_transcript	uc002lkb.3	nonsynonymous SNV	exon5	c.G722A	p.G241E	VIQAKDMVGQNGGLSGTTSVTVTLT	VIQAKDMVGQNGELSGTTSVTVTLT	1.0	5.0	unscreened	-	3466_18:63489413-63489413 G>A_VIQAKDMVGQNGELSGTTSVTVTLT
7:23809306-23809306 G>A	0.0	3466	MELANOMA	-	-	-	-	STK31	NM_032944,p.M525I|uc003sws.5,p.M548I|ENST00000428484,p.M525I|ENST00000355870,p.M548I|uc011jze.3,p.M548I|uc003swt.5,p.M525I|ENST00000433467,p.M548I|uc031swr.1,p.M525I|NM_001260504,p.M525I|ENST00000354639,p.M525I|NM_031414,p.M548I|NM_001260505,p.M548I|uc010kuq.4,p.M525I	retained_intron, protein_coding, processed_transcript	uc031swr.1	nonsynonymous SNV	exon13	c.G1575A	p.M525I	LSVEGSLISEDAMDNIDEILEKTES	LSVEGSLISEDAIDNIDEILEKTES	1.0	8.0	unscreened	-	3466_7:23809306-23809306 G>A_LSVEGSLISEDAIDNIDEILEKTES
12:70206778-70206778 G>A	1.0	3466	MELANOMA	-	-	-	-	RAB3IP	uc001svq.3,p.D405N|NM_175625,p.D405N|ENST00000483530,p.D389N|uc001svn.3,p.D389N|ENST00000362025,p.D405N|NM_175624,p.D389N	 nonsense_mediated_decay,retained_intron, protein_coding	uc001svq.3	nonsynonymous SNV	exon9	c.G1213A	p.D405N	KSLLYVTFLHTFDTFSRDS	KSLLYVTFLHTFNTFSRDS	4.0	9.0	unscreened	-	3466_12:70206778-70206778 G>A_KSLLYVTFLHTFNTFSRDS
16:77465247-77465247 C>T	0.0	3466	MELANOMA	-	-	-	-	ADAMTS18	ENST00000449265,p.G147E|ENST00000282849,p.G147E|NM_199355,p.G147E|uc002ffc.4,p.G147E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ffc.4	nonsynonymous SNV	exon3	c.G440A	p.G147E	TQKPEVQQCFYQGFIRNDSSSSVAV	TQKPEVQQCFYQEFIRNDSSSSVAV	1.0	2.0	unscreened	-	3466_16:77465247-77465247 C>T_TQKPEVQQCFYQEFIRNDSSSSVAV
15:52534300-52534300 G>A	0.0	3466	MELANOMA	-	-	-	-	MYO5C	ENST00000261839,p.T834I|NM_018728,p.T834I|uc010bff.3,p.T834I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bff.3	nonsynonymous SNV	exon20	c.C2501T	p.T834I	LVRSLYQLIRMATITMQAYSRGFLA	LVRSLYQLIRMAIITMQAYSRGFLA	1.0	8.0	unscreened	-	3466_15:52534300-52534300 G>A_LVRSLYQLIRMAIITMQAYSRGFLA
5:79030191-79030191 C>T	0.0	3466	MELANOMA	-	-	-	-	CMYA5	ENST00000446378,p.S1868L|uc003kgc.3,p.S1868L|NM_153610,p.S1868L	retained_intron, protein_coding, processed_transcript	uc003kgc.3	nonsynonymous SNV	exon2	c.C5603T	p.S1868L	LMRENLPLEQSKSFMTTKPADVKET	LMRENLPLEQSKLFMTTKPADVKET	3.0	9.0	unscreened	-	3466_5:79030191-79030191 C>T_LMRENLPLEQSKLFMTTKPADVKET
14:62536506-62536506 G>A	0.0	3466	MELANOMA	-	-	-	-	SYT16	uc001xfu.1,p.D237N|ENST00000555409,p.D237N|NM_031914,p.D237N|uc010tsd.1,p.D237N|ENST00000446982,p.D237N|ENST00000430451,p.D237N	protein_coding, nonsense_mediated_decay	uc010tsd.1	nonsynonymous SNV	exon3	c.G709A	p.D237N	PKFSRSLLTHGEDGTEVSACEDLDG	PKFSRSLLTHGENGTEVSACEDLDG	1.0	4.0	unscreened	-	3466_14:62536506-62536506 G>A_PKFSRSLLTHGENGTEVSACEDLDG
2:30957376-30957376 C>A	0.0	3466	MELANOMA	-	-	-	-	CAPN13	ENST00000295055,p.K579N|ENST00000534090,p.K579N|NM_144575,p.K579N|uc021vfn.1,p.K579N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vfn.1	nonsynonymous SNV	exon18	c.G1737T	p.K579N	WKRLVHYQHVFQKVQTSPGVLLSSD	WKRLVHYQHVFQNVQTSPGVLLSSD	1.0	7.0	unscreened	-	3466_2:30957376-30957376 C>A_WKRLVHYQHVFQNVQTSPGVLLSSD
19:15198775-15198775 C>T	0.0	3466	MELANOMA	-	-	-	-	OR1I1	NM_001004713,p.A300V|uc010xoe.2,p.A300V|ENST00000209540,p.A300V	protein_coding	uc010xoe.2	nonsynonymous SNV	exon1	c.C899T	p.A300V	FIYSIRNKDMKAALGKLIGKVAVPC	FIYSIRNKDMKAVLGKLIGKVAVPC	1.0	2.0	unscreened	-	3466_19:15198775-15198775 C>T_FIYSIRNKDMKAVLGKLIGKVAVPC
12:40823373-40823373 C>T	0.0	3466	MELANOMA	-	-	-	-	MUC19	ENST00000425730,p.T225I	retained_intron, protein_coding, processed_transcript	ENST00000425730	nonsynonymous SNV	exon14	c.C674T	p.T225I	SQCTCQDAKWSCTEALCPGRCKVEG	SQCTCQDAKWSCIEALCPGRCKVEG	1.0	9.0	unscreened	-	3466_12:40823373-40823373 C>T_SQCTCQDAKWSCIEALCPGRCKVEG
10:50574385-50574385 G>A	0.0	3466	MELANOMA	-	-	-	-	DRGX	uc010qgq.2,p.L195F|ENST00000434016,p.L195F|ENST00000374139,p.L190F|NM_001276451,p.L190F|uc021pqd.2,p.L190F	protein_coding	uc021pqd.2	nonsynonymous SNV	exon7	c.C568T	p.L190F	PLCSCCVPDPMGLSFLPTYGCQSNR	PLCSCCVPDPMGFSFLPTYGCQSNR	1.0	4.0	unscreened	-	3466_10:50574385-50574385 G>A_PLCSCCVPDPMGFSFLPTYGCQSNR
6:117252545-117252545 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1697808;OCCURENCE=1(skin)	-	RFX6	ENST00000332958,p.G888E|NM_173560,p.G888E|uc003pxm.3,p.G888E	retained_intron, protein_coding, processed_transcript	uc003pxm.3	nonsynonymous SNV	exon19	c.G2663A	p.G888E	TPIPSSSSQCMYGTSNQYPAQETLD	TPIPSSSSQCMYETSNQYPAQETLD	1.0	9.0	unscreened	-	3466_6:117252545-117252545 G>A_TPIPSSSSQCMYETSNQYPAQETLD
18:72999404-72999404 C>T	1.0	3466	MELANOMA	0.0005	-	-	-	TSHZ1	uc021uln.1,p.P636L|ENST00000322038,p.P636L|NM_005786,p.P636L|ENST00000580243,p.P681L|uc002lly.4,p.P636L	retained_intron, protein_coding	uc021uln.1	nonsynonymous SNV	exon1	c.C1907T	p.P636L	AASPIAKENKDFPKTEEVSGKPQKK	AASPIAKENKDFLKTEEVSGKPQKK	6.0	5.0	-	-	3466_18:72999404-72999404 C>T_AASPIAKENKDFLKTEEVSGKPQKK
15:57967172-57967172 G>A	0.0	3466	MELANOMA	-	-	-	-	GCOM1,MYZAP	uc031qsg.1,p.E404K|NM_001285900,p.E404K|NM_001018091,p.E404K|ENST00000380568,p.E404K|NM_001018100,p.E404K|ENST00000488175,p.E404K|uc002aem.3,p.E404K|NM_001018090,p.E404K|ENST00000380569,p.E404K|ENST00000396180,p.E373K|ENST00000380560,p.E335K|uc002aei.3,p.E404K|ENST00000267853,p.E404K|ENST00000574161,p.E404K|ENST00000471563,p.E335K|uc002aeo.3,p.E404K|ENST00000587652,p.E404K|ENST00000468886,p.E373K	protein_coding	uc031qsg.1	nonsynonymous SNV	exon12	c.G1210A	p.E404K	LEKISFLEGENNELQSRLDYLTETQ	LEKISFLEGENNKLQSRLDYLTETQ	2.0	8.0	unscreened	-	3466_15:57967172-57967172 G>A_LEKISFLEGENNKLQSRLDYLTETQ
5:121487867-121487867 A>C	0.0	3466	MELANOMA	-	-	-	-	ZNF474	ENST00000296600,p.K61T|uc003ksv.3,p.K61T|uc021ycy.1,p.K61T|NM_207317,p.K61T	protein_coding, processed_transcript	uc021ycy.1	nonsynonymous SNV	exon1	c.A182C	p.K61T	NPGENIKTDTQKKRPGTVILSKLSS	NPGENIKTDTQKTRPGTVILSKLSS	1.0	9.0	unscreened	-	3466_5:121487867-121487867 A>C_NPGENIKTDTQKTRPGTVILSKLSS
12:130184535-130184535 G>A	0.0	3466	MELANOMA	-	-	-	-	TMEM132D	ENST00000422113,p.P263L|NM_133448,p.P263L|uc009zyl.1,p.P263L	protein_coding	uc009zyl.1	nonsynonymous SNV	exon2	c.C788T	p.P263L	RTGHSDIDESGPPLQRIGSIFLYQT	RTGHSDIDESGPLLQRIGSIFLYQT	1.0	9.0	unscreened	-	3466_12:130184535-130184535 G>A_RTGHSDIDESGPLLQRIGSIFLYQT
16:11370113-11370113 C>T	0.0	3466	MELANOMA	-	-	-	-	PRM2	NM_001286357,p.E39K|ENST00000241808,p.E39K|NM_002762,p.E39K|uc002dau.1,p.E39K|NM_001286356,p.E39K|NM_001286358,p.E39K|NM_001286359,p.E39K|ENST00000435245,p.E39K	protein_coding	uc002dau.1	nonsynonymous SNV	exon1	c.G115A	p.E39K	GHHGQEEQGLSPEHVEVYERTHGQS	GHHGQEEQGLSPKHVEVYERTHGQS	1.0	8.0	unscreened	-	3466_16:11370113-11370113 C>T_GHHGQEEQGLSPKHVEVYERTHGQS
2:48915108-48915108 G>A	0.0	3466	MELANOMA	-	-	-	-	LHCGR	ENST00000344775,p.L548F|ENST00000294954,p.L610F|ENST00000405626,p.L583F|uc002rwu.4,p.L610F|NM_000233,p.L610F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002rwu.4	nonsynonymous SNV	exon11	c.C1828T	p.L610F	LITVTNSKVLLVLFYPINSCANPFL	LITVTNSKVLLVFFYPINSCANPFL	1.0	5.0	unscreened	-	3466_2:48915108-48915108 G>A_LITVTNSKVLLVFFYPINSCANPFL
15:72186088-72186088 G>A	1.0	3466	MELANOMA	-	-	-	-	MYO9A	uc002atm.1,p.P416S|uc002atn.1,p.P1673S|ENST00000444904,p.P1673S|ENST00000356056,p.P1692S|uc002atl.5,p.P1692S|ENST00000424560,p.P1692S|NM_006901,p.P1692S|uc002atk.3,p.P416S|ENST00000564571,p.P1692S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002atn.1	nonsynonymous SNV	exon24	c.C5017T	p.P1673S	PLVSKEALNSKNPQLHKEDEPAWKP	PLVSKEALNSKNSQLHKEDEPAWKP	8.0	2.0	-	-	3466_15:72186088-72186088 G>A_PLVSKEALNSKNSQLHKEDEPAWKP
6:74079022-74079022 C>T	0.0	3466	MELANOMA	-	-	-	-	OOEP	NM_001080507,p.E93K|ENST00000370363,p.E38K|ENST00000370359,p.E93K|uc003pgu.4,p.E93K|uc003pgv.4,p.E38K|ENST00000441145,p.E38K	protein_coding	uc003pgv.4	nonsynonymous SNV	exon3	c.G112A	p.E38K	LTVDIVDSGNLVEITVFGRPRVQNR	LTVDIVDSGNLVKITVFGRPRVQNR	1.0	9.0	unscreened	-	3466_6:74079022-74079022 C>T_LTVDIVDSGNLVKITVFGRPRVQNR
7:6193580-6193580 G>A	1.0	3466	MELANOMA	-	-	-	-	USP42	uc011jwr.1,p.E644K|NM_032172,p.E799K|uc011jwo.1,p.E799K|ENST00000306177,p.E799K|uc011jwq.2,p.E606K|uc011jwp.2,p.E799K|ENST00000426246,p.E645K	retained_intron, protein_coding, nonsense_mediated_decay	uc011jwr.1	nonsynonymous SNV	exon13	c.G1930A	p.E644K	KEGAWEAMAVAPEEPPPSAGEDIVG	KEGAWEAMAVAPKEPPPSAGEDIVG	7.0	9.0	unscreened	-	3466_7:6193580-6193580 G>A_KEGAWEAMAVAPKEPPPSAGEDIVG
20:60508126-60508126 G>A	1.0	3466	MELANOMA	-	-	ID=COSM1533828;OCCURENCE=1(lung)	-	CDH4	NM_001252338,p.D738N|ENST00000543233,p.D701N|ENST00000360469,p.D775N|uc002ybn.2,p.D775N|uc002ybr.2,p.D738N|uc002ybp.2,p.D701N|NM_001252339,p.D701N|NM_001794,p.D775N	protein_coding	uc002ybr.2	nonsynonymous SNV	exon13	c.G2212A	p.D738N	RHTKQLLIDPEDDVRDNILKYDEEG	RHTKQLLIDPEDNVRDNILKYDEEG	4.0	6.0	unscreened	-	3466_20:60508126-60508126 G>A_RHTKQLLIDPEDNVRDNILKYDEEG
1:172628352-172628352 C>T	0.0	3466	MELANOMA	-	-	-	-	FASLG	NM_000639,p.P4L|uc001gis.3,p.P4L|ENST00000340030,p.P4L|uc001git.3,p.P4L|ENST00000367721,p.P4L	protein_coding	uc001git.3	nonsynonymous SNV	exon1	c.C11T	p.P4L	MQQPFNYPYPQIYWVD	MQQLFNYPYPQIYWVD	3.0	7.0	unscreened	-	3466_1:172628352-172628352 C>T_MQQLFNYPYPQIYWVD
12:7867974-7867974 G>A	0.0	3466	MELANOMA	-	-	-	-	DPPA3	uc001qtf.3,p.R93K|NM_199286,p.R93K|ENST00000345088,p.R93K	protein_coding	uc001qtf.3	nonsynonymous SNV	exon2	c.G278A	p.R93K	SRRGVRTLLSVQREKMARLRYMLLG	SRRGVRTLLSVQKEKMARLRYMLLG	1.0	4.0	unscreened	-	3466_12:7867974-7867974 G>A_SRRGVRTLLSVQKEKMARLRYMLLG
7:150416160-150416160 G>A	0.0	3466	MELANOMA	-	-	-	-	GIMAP1,GIMAP1-GIMAP5	uc022apw.1,p.D9N|uc003whq.3,p.D9N|ENST00000307194,p.D9N|NM_001199577,p.D9N|NM_130759,p.D9N	retained_intron, protein_coding	uc022apw.1	nonsynonymous SNV	exon2	c.G25A	p.D9N	MGGRKMATDEENVYGLEENAQ	MGGRKMATNEENVYGLEENAQ	4.0	1.0	unscreened	-	3466_7:150416160-150416160 G>A_MGGRKMATNEENVYGLEENAQ
20:57896238-57896238 G>A	0.0	3466	MELANOMA	-	-	-	-	EDN3	uc002yar.3,p.D178N|ENST00000371028,p.D178N|NM_207032,p.D178N|NM_207034,p.D178N|uc002yap.3,p.D178N|ENST00000311585,p.D178N|uc002yaq.3,p.D178N|ENST00000337938,p.D178N|NM_000114,p.D178N	protein_coding	uc002yar.3	nonsynonymous SNV	exon3	c.G532A	p.D178N	DKACLHFCTQTLDVSSNSRTAEKTD	DKACLHFCTQTLNVSSNSRTAEKTD	1.0	2.0	unscreened	-	3466_20:57896238-57896238 G>A_DKACLHFCTQTLNVSSNSRTAEKTD
9:33442209-33442209 C>T	0.0	3466	MELANOMA	-	-	-	-	AQP3	uc010mju.3,p.D165N	protein_coding, processed_transcript	uc010mju.3	nonsynonymous SNV	exon5	c.G493A	p.D165N	GHLDMINGFFDQDRPALVVGAHRVP	GHLDMINGFFDQNRPALVVGAHRVP	3.0	9.0	unscreened	-	3466_9:33442209-33442209 C>T_GHLDMINGFFDQNRPALVVGAHRVP
8:18258294-18258294 G>A	0.0	3466	MELANOMA	-	-	-	-	NAT2	uc003wyw.1,p.E261K|ENST00000286479,p.E261K|ENST00000520116,p.E131K|NM_000015,p.E261K|uc022asl.1,p.E261K	protein_coding	uc022asl.1	nonsynonymous SNV	exon1	c.G781A	p.E261K	NTDLVEFKTLTEEEVEEVLRNIFKI	NTDLVEFKTLTEKEVEEVLRNIFKI	1.0	9.0	unscreened	-	3466_8:18258294-18258294 G>A_NTDLVEFKTLTEKEVEEVLRNIFKI
7:107818546-107818546 G>A	1.0	3466	MELANOMA	-	-	-	-	NRCAM	NM_001193584,p.P936S|NM_001037132,p.P955S|ENST00000413765,p.P936S|NM_005010,p.P939S|uc003vfe.3,p.P936S|ENST00000351718,p.P939S|uc003vfd.3,p.P936S|NM_001193582,p.P955S|ENST00000379028,p.P955S|uc022aka.1,p.P955S|ENST00000425651,p.P955S|uc003vfc.3,p.P939S|ENST00000379024,p.P936S|NM_001193583,p.P936S|ENST00000379022,p.P955S|uc011kmk.2,p.P955S	retained_intron, protein_coding, processed_transcript	uc022aka.1	nonsynonymous SNV	exon23	c.C2863T	p.P955S	RVFNTPEGVPSAPSSLKIVNPTLDS	RVFNTPEGVPSASSSLKIVNPTLDS	6.0	1.0	unscreened	-	3466_7:107818546-107818546 G>A_RVFNTPEGVPSASSSLKIVNPTLDS
X:114524333-114524333 C>T	0.0	3466	MELANOMA	-	-	ID=COSM3843287;OCCURENCE=1(breast)	-	LUZP4	ENST00000371920,p.S3L|uc004eqa.3,p.S3L|ENST00000371921,p.S3L|NM_016383,p.S3L	protein_coding	uc004eqa.3	nonsynonymous SNV	exon1	c.C8T	p.S3L	MASFRKLTLSEKVPP	MALFRKLTLSEKVPP	1.0	9.0	unscreened	-	3466_X:114524333-114524333 C>T_MALFRKLTLSEKVPP
4:37440675-37440675 C>T	0.0	3466	MELANOMA	-	-	-	-	NWD2	uc011bxz.2,p.S320F|ENST00000309447,p.S320F|NM_001144990,p.S320F	protein_coding	uc011bxz.2	nonsynonymous SNV	exon6	c.C959T	p.S320F	TIVASSNLRVYTSVTHCDMKLGYSQ	TIVASSNLRVYTFVTHCDMKLGYSQ	1.0	9.0	unscreened	-	3466_4:37440675-37440675 C>T_TIVASSNLRVYTFVTHCDMKLGYSQ
18:59166708-59166708 C>T	0.0	3466	MELANOMA	-	-	-	-	CDH20	uc010dps.1,p.P179L|ENST00000536675,p.P179L|uc002lif.2,p.P173L|ENST00000538374,p.P179L|NM_031891,p.P179L|ENST00000262717,p.P179L	protein_coding	uc010dps.1	nonsynonymous SNV	exon2	c.C536T	p.P179L	DGPYVATVPEMSPVGTSVIQVTATD	DGPYVATVPEMSLVGTSVIQVTATD	1.0	8.0	unscreened	-	3466_18:59166708-59166708 C>T_DGPYVATVPEMSLVGTSVIQVTATD
6:7861745-7861745 G>A	0.0	3466	MELANOMA	-	-	-	-	BMP6	NM_001718,p.E307K|ENST00000283147,p.E307K|uc003mxu.4,p.E307K	protein_coding	uc003mxu.4	nonsynonymous SNV	exon3	c.G919A	p.E307K	TRVVWASEEGWLEFDITATSNLWVV	TRVVWASEEGWLKFDITATSNLWVV	2.0	9.0	unscreened	-	3466_6:7861745-7861745 G>A_TRVVWASEEGWLKFDITATSNLWVV
18:29340381-29340381 G>A	0.0	3466	MELANOMA	-	-	-	-	SLC25A52	NM_001034172,p.R92C|uc002kxa.3,p.R92C|ENST00000579441,p.R82C|ENST00000269205,p.R92C	protein_coding	uc002kxa.3	nonsynonymous SNV	exon1	c.C274T	p.R92C	LQLRRDGFRNLYRGILPPLMQKTTT	LQLRRDGFRNLYCGILPPLMQKTTT	2.0	5.0	unscreened	-	3466_18:29340381-29340381 G>A_LQLRRDGFRNLYCGILPPLMQKTTT
10:52103667-52103667 C>T	1.0	3466	MELANOMA	-	-	-	-	SGMS1	uc001jje.3,p.E70K|ENST00000361543,p.E70K|ENST00000361781,p.E70K|uc021pqq.1,p.E70K|uc009xou.1,p.E70K|uc021pqo.1,p.E70K|NM_147156,p.E70K	protein_coding, processed_transcript	uc021pqq.1	nonsynonymous SNV	exon2	c.G208A	p.E70K	QRLLDMIETLKMEHHLEAHKNGHAN	QRLLDMIETLKMKHHLEAHKNGHAN	10.0	5.0	-	-	3466_10:52103667-52103667 C>T_QRLLDMIETLKMKHHLEAHKNGHAN
15:68653990-68653990 C>T	0.0	3466	MELANOMA	-	-	-	-	ITGA11	ENST00000423218,p.G137E|NM_001004439,p.G137E|uc002ari.3,p.G137E|ENST00000315757,p.G137E|uc010bib.3,p.G137E	retained_intron, protein_coding, processed_transcript	uc010bib.3	nonsynonymous SNV	exon5	c.G410A	p.G137E	WSHECGSSYYTTGMCSRVNSNFRFS	WSHECGSSYYTTEMCSRVNSNFRFS	4.0	5.0	-	-	3466_15:68653990-68653990 C>T_WSHECGSSYYTTEMCSRVNSNFRFS
2:228846549-228846549 G>A	0.0	3466	MELANOMA	-	-	-	-	SPHKAP	NM_030623,p.R1634W|NM_001142644,p.R1663W|uc002vpp.2,p.R1634W|ENST00000392056,p.R1663W|ENST00000344657,p.R1634W|uc002vpq.2,p.R1663W	retained_intron, protein_coding	uc002vpq.2	nonsynonymous SNV	exon12	c.C4987T	p.R1663W	IEKFLDVVQLVHRKSWKVGDIFHAV	IEKFLDVVQLVHWKSWKVGDIFHAV	1.0	2.0	unscreened	-	3466_2:228846549-228846549 G>A_IEKFLDVVQLVHWKSWKVGDIFHAV
11:4967879-4967879 G>A	0.0	3466	MELANOMA	-	-	-	-	OR51A4	NM_001005329,p.S151F|uc010qys.2,p.S151F|ENST00000380373,p.S151F	protein_coding	uc010qys.2	nonsynonymous SNV	exon1	c.C452T	p.S151F	TTVRVAQIGIVFSFKSMLLVLPFPF	TTVRVAQIGIVFFFKSMLLVLPFPF	1.0	2.0	unscreened	-	3466_11:4967879-4967879 G>A_TTVRVAQIGIVFFFKSMLLVLPFPF
11:123900997-123900997 C>T	0.0	3466	MELANOMA	-	-	-	-	OR10G8	NM_001004464,p.S223F|uc001pzp.1,p.S223F|ENST00000431524,p.S223F	protein_coding	uc001pzp.1	nonsynonymous SNV	exon1	c.C668T	p.S223F	VLIVLSYVSIVCSILRIRTSEGKHR	VLIVLSYVSIVCFILRIRTSEGKHR	1.0	5.0	unscreened	-	3466_11:123900997-123900997 C>T_VLIVLSYVSIVCFILRIRTSEGKHR
19:14199940-14199940 G>A	1.0	3466	MELANOMA	-	-	-	-	SAMD1	ENST00000533683,p.P291S	protein_coding, processed_transcript	ENST00000533683	nonsynonymous SNV	exon2	c.C871T	p.P291S	PHQGQDEGRGPAPGSGTRQVFSMAA	PHQGQDEGRGPASGSGTRQVFSMAA	5.0	6.0	-	-	3466_19:14199940-14199940 G>A_PHQGQDEGRGPASGSGTRQVFSMAA
5:41000800-41000800 G>A	0.0	3466	MELANOMA	-	-	-	-	MROH2B	uc003jmj.4,p.P1444S|ENST00000399564,p.P1444S|NM_173489,p.P1444S|uc003jmi.4,p.P999S|ENST00000506092,p.P999S	retained_intron, protein_coding	uc003jmj.4	nonsynonymous SNV	exon38	c.C4330T	p.P1444S	KSLISFLLHLWDPNPKIGVACRDVL	KSLISFLLHLWDSNPKIGVACRDVL	1.0	8.0	unscreened	-	3466_5:41000800-41000800 G>A_KSLISFLLHLWDSNPKIGVACRDVL
8:39821178-39821178 C>T	0.0	3466	MELANOMA	-	-	-	-	IDO2	ENST00000389060,p.P51S|uc010lwy.1,p.P64S|ENST00000502986,p.P64S|NM_194294,p.P64S	protein_coding, processed_transcript	uc010lwy.1	nonsynonymous SNV	exon3	c.C190T	p.P64S	HYRPWMEIANKLPQLIDAHQLQAHV	HYRPWMEIANKLSQLIDAHQLQAHV	1.0	9.0	unscreened	-	3466_8:39821178-39821178 C>T_HYRPWMEIANKLSQLIDAHQLQAHV
1:2939359-2939359 C>T	0.0	3466	MELANOMA	-	-	-	-	ACTRT2	ENST00000378404,p.S370F|NM_080431,p.S370F|uc001ajz.3,p.S370F	protein_coding	uc001ajz.3	nonsynonymous SNV	exon1	c.C1109T	p.S370F	WVTAADFKEFGTSVVQRRCF	WVTAADFKEFGTFVVQRRCF	1.0	6.0	unscreened	-	3466_1:2939359-2939359 C>T_WVTAADFKEFGTFVVQRRCF
2:201474083-201474083 G>A	0.0	3466	MELANOMA	-	-	ID=COSM3364485;OCCURENCE=1(kidney)	-	AOX1	ENST00000374700,p.D367N|NM_001159,p.D367N|uc002uvx.3,p.D367N	retained_intron, protein_coding, processed_transcript	uc002uvx.3	nonsynonymous SNV	exon12	c.G1099A	p.D367N	LGGHIISRHPDSDLNPILAVGNCTL	LGGHIISRHPDSNLNPILAVGNCTL	3.0	1.0	-	-	3466_2:201474083-201474083 G>A_LGGHIISRHPDSNLNPILAVGNCTL
2:202519587-202519587 G>A	0.0	3466	MELANOMA	-	-	-	-	MPP4	ENST00000315506,p.P408S|uc010zht.2,p.P394S|NM_033066,p.P452S|uc010ftj.3,p.P445S|uc002uyk.4,p.P452S|ENST00000447335,p.P445S|ENST00000428900,p.P428S|uc010zhq.2,p.P421S|ENST00000409474,p.P452S|ENST00000396886,p.P377S|ENST00000359962,p.P452S|ENST00000409143,p.P394S|uc010zhr.2,p.P428S|uc002uyj.4,p.P417S|uc002uyi.4,p.P70S|uc010ftk.3,p.P408S|uc010zhs.2,p.P377S	retained_intron, protein_coding, nonsense_mediated_decay	uc010zht.2	nonsynonymous SNV	exon13	c.C1180T	p.P394S	VNELRRQLIEFNPSHFQSAVPHTTR	VNELRRQLIEFNSSHFQSAVPHTTR	2.0	2.0	unscreened	-	3466_2:202519587-202519587 G>A_VNELRRQLIEFNSSHFQSAVPHTTR
15:33952446-33952446 C>T	0.0	3466	MELANOMA	-	-	-	-	RYR3	NM_001243996,p.P1482S|uc010bar.3,p.P1482S|uc001zhi.3,p.P1482S|ENST00000389232,p.P1482S|NM_001036,p.P1482S|ENST00000415757,p.P1482S	retained_intron, protein_coding, processed_transcript	uc010bar.3	nonsynonymous SNV	exon34	c.C4444T	p.P1482S	LSAAIFRSEEKNPVPQCPPRLDVQT	LSAAIFRSEEKNSVPQCPPRLDVQT	1.0	1.0	unscreened	-	3466_15:33952446-33952446 C>T_LSAAIFRSEEKNSVPQCPPRLDVQT
1:89843699-89843699 C>T	0.0	3466	MELANOMA	-	-	-	-	GBP6	uc001dnf.2,p.A119V|NM_198460,p.A119V|ENST00000370456,p.A119V	protein_coding, processed_transcript	uc001dnf.2	nonsynonymous SNV	exon4	c.C356T	p.A119V	GDPKNDSWIFALAVLLCSTFVYNSM	GDPKNDSWIFALVVLLCSTFVYNSM	1.0	2.0	unscreened	-	3466_1:89843699-89843699 C>T_GDPKNDSWIFALVVLLCSTFVYNSM
11:113854009-113854009 C>T	0.0	3466	MELANOMA	-	-	-	-	HTR3A	ENST00000510849,p.T181I	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000510849	nonsynonymous SNV	exon5	c.C542T	p.T181I	QNCSLTFTSWLHTSGHPPAAPLLCG	QNCSLTFTSWLHISGHPPAAPLLCG	1.0	3.0	unscreened	-	3466_11:113854009-113854009 C>T_QNCSLTFTSWLHISGHPPAAPLLCG
13:28942731-28942731 G>A	0.0	3466	MELANOMA	-	-	-	-	FLT1	ENST00000541932,p.S729L|uc010aar.1,p.S729L|NM_001160030,p.S729L	protein_coding	uc010aar.1	nonsynonymous SNV	exon15	c.C2186T	p.S729L	SSSPLSSSSSSSSSSSS	SSSPLSSSSSSSLSSSS	7.0	9.0	unscreened	-	3466_13:28942731-28942731 G>A_SSSPLSSSSSSSLSSSS
19:12936729-12936729 C>T	0.0	3466	MELANOMA	-	-	-	-	RTBDN	NM_001270442,p.D167N|uc002mvi.4,p.D161N|NM_001270441,p.D171N|NM_001270445,p.D155N|uc031rjm.1,p.D155N|uc031rjo.1,p.D167N|NM_031429,p.D193N|ENST00000590404,p.D167N|uc021upo.2,p.D171N|NM_001270444,p.D161N|NM_001270443,p.D161N|uc031rjn.1,p.D161N|ENST00000322912,p.D193N|ENST00000589681,p.D155N|uc031rjl.1,p.D161N|ENST00000586969,p.D161N|uc002mvj.4,p.D193N|ENST00000592204,p.D171N|NM_001080997,p.D161N|ENST00000589808,p.D161N|ENST00000458671,p.D161N	protein_coding	uc031rjo.1	nonsynonymous SNV	exon6	c.G499A	p.D167N	CLTYGQTFADGTDLCRSALGHALPV	CLTYGQTFADGTNLCRSALGHALPV	1.0	2.0	unscreened	-	3466_19:12936729-12936729 C>T_CLTYGQTFADGTNLCRSALGHALPV
4:122828624-122828624 G>A	0.0	3466	MELANOMA	-	-	-	-	TRPC3	NM_001130698,p.P631S|uc003ieg.2,p.P631S|uc010inr.2,p.P503S|ENST00000379645,p.P631S|uc011cgl.1,p.P295S|NM_003305,p.P558S|uc003ief.2,p.P558S|ENST00000264811,p.P558S|ENST00000513531,p.P503S	protein_coding, nonsense_mediated_decay	uc011cgl.1	nonsynonymous SNV	exon7	c.C883T	p.P295S	VVLSFSRIAYILPANESFGPLQISL	VVLSFSRIAYILSANESFGPLQISL	1.0	6.0	unscreened	-	3466_4:122828624-122828624 G>A_VVLSFSRIAYILSANESFGPLQISL
18:3879710-3879710 G>A	0.0	3466	MELANOMA	-	-	-	-	DLGAP1	ENST00000581527,p.T120I|ENST00000584874,p.T120I|uc002kmf.3,p.T120I|NM_001242761,p.T120I|uc010wyz.2,p.T120I|ENST00000515196,p.T120I|ENST00000315677,p.T120I|NM_004746,p.T120I|uc002kmk.2,p.T120I	protein_coding, processed_transcript	uc010wyz.2	nonsynonymous SNV	exon4	c.C359T	p.T120I	ERQLPLSRDGYHTLQYKRTAVEHRS	ERQLPLSRDGYHILQYKRTAVEHRS	1.0	6.0	unscreened	-	3466_18:3879710-3879710 G>A_ERQLPLSRDGYHILQYKRTAVEHRS
1:181701637-181701637 G>A	1.0	3466	MELANOMA	-	-	-	-	CACNA1E	ENST00000357570,p.M756I|ENST00000360108,p.M786I|ENST00000526775,p.M786I|uc009wxt.3,p.M805I|ENST00000367570,p.M805I|ENST00000367573,p.M805I|uc009wxs.3,p.M786I|uc001gox.1,p.M31I|NM_000721,p.M805I|ENST00000358338,p.M737I|NM_001205293,p.M805I|NM_001205294,p.M786I|ENST00000367567,p.M412I|uc001gow.3,p.M805I	retained_intron, protein_coding	uc009wxt.3	nonsynonymous SNV	exon20	c.G2415A	p.M805I	SQEALNREEAPTMNPLNPLNPLSSL	SQEALNREEAPTINPLNPLNPLSSL	1.0	5.0	-	-	3466_1:181701637-181701637 G>A_SQEALNREEAPTINPLNPLNPLSSL
3:54952688-54952688 G>A	0.0	3466	MELANOMA	-	-	-	-	LRTM1	NM_020678,p.P279L|ENST00000493075,p.P203L|ENST00000273286,p.P279L|uc003dhl.3,p.P279L	protein_coding	uc003dhl.3	nonsynonymous SNV	exon3	c.C836T	p.P279L	ELLECELKPKPRPANLRHAIATVII	ELLECELKPKPRLANLRHAIATVII	1.0	4.0	unscreened	-	3466_3:54952688-54952688 G>A_ELLECELKPKPRLANLRHAIATVII
6:50696978-50696978 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1697374;OCCURENCE=1(skin)	-	TFAP2D	ENST00000008391,p.G279E|uc003paf.3,p.G279E|NM_172238,p.G279E	protein_coding, processed_transcript	uc003paf.3	nonsynonymous SNV	exon5	c.G836A	p.G279E	EKLDRLGLNLPAGRRKAANVTLLTS	EKLDRLGLNLPAERRKAANVTLLTS	1.0	9.0	unscreened	-	3466_6:50696978-50696978 G>A_EKLDRLGLNLPAERRKAANVTLLTS
8:93029550-93029550 C>T	0.0	3466	MELANOMA	-	-	-	1	RUNX1T1	NM_001198631,p.D44N|uc011lgi.2,p.D55N|uc022axo.1,p.D44N|uc022axs.1,p.D103N|ENST00000521733,p.D17N|uc022axu.1,p.D24N|uc022axq.1,p.D44N|ENST00000396218,p.D17N|NM_001198630,p.D44N|uc022axv.1,p.D44N|NM_001198627,p.D44N|ENST00000519847,p.D44N|NM_004349,p.D17N|ENST00000518844,p.D17N|ENST00000518823,p.D17N|ENST00000517919,p.D44N|uc022axp.1,p.D44N|ENST00000522467,p.D44N|NM_001198634,p.D55N|NM_001198628,p.D44N|ENST00000523168,p.D44N|uc003yfd.3,p.D44N|ENST00000520974,p.D44N|NM_001198632,p.D17N|uc022axr.1,p.D44N|NM_001198625,p.D17N|ENST00000523629,p.D44N|ENST00000521375,p.D44N|ENST00000520583,p.D44N|NM_001198633,p.D24N|NM_001198679,p.D103N|NM_001198629,p.D44N|ENST00000518992,p.D44N|ENST00000265814,p.D44N|ENST00000518317,p.D17N|NM_001198626,p.D44N|NM_175634,p.D44N|uc003yfc.2,p.D17N|uc022axt.1,p.D44N|ENST00000436581,p.D55N|uc010mam.3,p.D17N|uc010mao.3,p.D17N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022axv.1	nonsynonymous SNV	exon3	c.G130A	p.D44N	TEKHSTMPDSPVDVKTQSRLTPPTM	TEKHSTMPDSPVNVKTQSRLTPPTM	4.0	8.0	unscreened	-	3466_8:93029550-93029550 C>T_TEKHSTMPDSPVNVKTQSRLTPPTM
20:57896238-57896238 G>A	0.0	3466	MELANOMA	-	-	-	-	EDN3	ENST00000395654,p.D178N|NM_207033,p.D178N|uc002yas.3,p.D178N	protein_coding	uc002yas.3	nonsynonymous SNV	exon3	c.G532A	p.D178N	DKACLHFCTQTLDVSRQVEVKDQQS	DKACLHFCTQTLNVSRQVEVKDQQS	1.0	2.0	unscreened	-	3466_20:57896238-57896238 G>A_DKACLHFCTQTLNVSRQVEVKDQQS
1:164790786-164790786 C>T	0.0	3466	MELANOMA	-	-	-	1	PBX1	ENST00000559240,p.R284C	retained_intron, protein_coding, processed_transcript	ENST00000559240	nonsynonymous SNV	exon6	c.C850T	p.R284C	KCGITVSQVDTLRHVISQTGGYSDG	KCGITVSQVDTLCHVISQTGGYSDG	3.0	2.0	unscreened	-	3466_1:164790786-164790786 C>T_KCGITVSQVDTLCHVISQTGGYSDG
3:26751476-26751476 G>A	0.0	3466	MELANOMA	-	-	-	-	LRRC3B	ENST00000456208,p.E105K|uc003cdq.3,p.E105K|uc031rys.1,p.E105K|uc003cdp.3,p.E105K|NM_052953,p.E105K|ENST00000396641,p.E105K|ENST00000432040,p.E105K|uc021wuj.1,p.E105K|ENST00000417744,p.E105K	protein_coding, processed_transcript	uc031rys.1	nonsynonymous SNV	exon3	c.G313A	p.E105K	LNLSKNGIEFIDEHAFKGVAETLQT	LNLSKNGIEFIDKHAFKGVAETLQT	2.0	3.0	unscreened	-	3466_3:26751476-26751476 G>A_LNLSKNGIEFIDKHAFKGVAETLQT
1:237863538-237863538 G>A	0.0	3466	MELANOMA	-	-	-	-	RYR2	ENST00000366574,p.M3046I|ENST00000360064,p.M3044I|ENST00000542537,p.M3030I|NM_001035,p.M3046I|uc001hyl.1,p.M3046I	protein_coding, processed_transcript	uc001hyl.1	nonsynonymous SNV	exon65	c.G9138A	p.M3046I	HILGQTLDARTVMKTGLESVKSALR	HILGQTLDARTVIKTGLESVKSALR	2.0	1.0	unscreened	-	3466_1:237863538-237863538 G>A_HILGQTLDARTVIKTGLESVKSALR
20:3652425-3652425 C>T	0.0	3466	MELANOMA	-	-	-	-	ADAM33	NM_001282447,p.D570N|ENST00000379861,p.D570N|NM_153202,p.D570N|uc031rsh.1,p.D92N|NM_025220,p.D570N|ENST00000350009,p.D570N|uc002wir.1,p.D570N|uc002wiu.3,p.D570N|ENST00000356518,p.D570N|uc002wit.3,p.D570N|uc002wis.3,p.D92N	protein_coding, processed_transcript	uc031rsh.1	nonsynonymous SNV	exon12	c.G274A	p.D92N	DSEGHFLPCAGRDALCGKLQCQGGK	DSEGHFLPCAGRNALCGKLQCQGGK	1.0	5.0	unscreened	-	3466_20:3652425-3652425 C>T_DSEGHFLPCAGRNALCGKLQCQGGK
3:12421290-12421290 C>T	0.0	3466	MELANOMA	-	-	-	1	PPARG	uc003bwr.3,p.S29F|NM_138712,p.S29F|ENST00000397026,p.S35F|NM_005037,p.S29F|uc031rym.1,p.S29F|ENST00000455517,p.S29F|ENST00000539812,p.S27F|ENST00000397012,p.S29F|ENST00000397029,p.S29F|uc003bwu.3,p.S29F|ENST00000396999,p.S29F|uc003bwv.3,p.S29F|uc003bwx.3,p.S57F|NM_015869,p.S57F|ENST00000309576,p.S29F|uc003bwt.1,p.S29F|ENST00000397010,p.S29F|NM_138711,p.S29F|uc003bws.3,p.S29F|uc003bww.1,p.S57F|ENST00000397015,p.S29F|ENST00000438682,p.S29F|ENST00000287820,p.S57F|ENST00000397000,p.S29F	retained_intron, protein_coding, nonsense_mediated_decay	uc031rym.1	nonsynonymous SNV	exon3	c.C86T	p.S29F	ISSVDLSVMEDHSHSFDIKPFTTVD	ISSVDLSVMEDHFHSFDIKPFTTVD	3.0	6.0	unscreened	-	3466_3:12421290-12421290 C>T_ISSVDLSVMEDHFHSFDIKPFTTVD
8:77768516-77768516 G>A	1.0	3466	MELANOMA	-	-	-	-	ZFHX4	ENST00000521891,p.G3120E|ENST00000455469,p.G3075E|NM_024721,p.G3120E|ENST00000518282,p.G3094E|uc003yau.2,p.G3120E	retained_intron, protein_coding, nonsense_mediated_decay	uc003yau.2	nonsynonymous SNV	exon10	c.G9359A	p.G3120E	LLPGMNGPSSLPGFPQNSNTLTPPG	LLPGMNGPSSLPEFPQNSNTLTPPG	4.0	1.0	unscreened	-	3466_8:77768516-77768516 G>A_LLPGMNGPSSLPEFPQNSNTLTPPG
11:2417152-2417152 G>T	1.0	3466	MELANOMA	-	-	-	-	CD81	ENST00000481687,p.K177N|NM_004356,p.K171N|ENST00000492252,p.K164N|ENST00000381036,p.K209N|ENST00000527343,p.K160N|NM_001297649,p.K100N|ENST00000526072,p.K100N|ENST00000492627,p.K100N|ENST00000263645,p.K171N|uc001lwf.1,p.K171N	retained_intron, protein_coding, processed_transcript	uc001lwf.1	nonsynonymous SNV	exon6	c.G513T	p.K171N	SSTLTALTTSVLKNNLCPSGSNIIS	SSTLTALTTSVLNNNLCPSGSNIIS	10.0	7.0	-	-	3466_11:2417152-2417152 G>T_SSTLTALTTSVLNNNLCPSGSNIIS
2:179597995-179597995 C>T	0.0	3466	MELANOMA	-	-	-	-	TTN	uc002umz.1,p.S759N|uc031rqc.1,p.S5342N|ENST00000589042,p.S5342N|uc021vsy.2,p.S4098N|ENST00000342992,p.S4098N|NM_001267550,p.S5342N|NM_133378,p.S4098N|NM_001256850,p.S5025N|uc031rqd.1,p.S5025N|ENST00000591111,p.S5025N	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon52	c.G15074A	p.S5025N	QYTFEISNEVGSSSCETTFTVLDRD	QYTFEISNEVGSNSCETTFTVLDRD	5.0	3.0	unscreened	-	3466_2:179597995-179597995 C>T_QYTFEISNEVGSNSCETTFTVLDRD
6:136597318-136597318 C>T	0.0	3466	MELANOMA	-	-	-	2	BCLAF1	NM_014739,p.E449K|ENST00000529826,p.E449K|uc003qgx.1,p.E449K|ENST00000527613,p.E449K|uc011ede.1,p.E447K|uc003qgy.1,p.E447K|ENST00000527759,p.E447K|ENST00000527536,p.E449K|NM_001077440,p.E447K|ENST00000531224,p.E449K|ENST00000530429,p.E447K|ENST00000353331,p.E447K|ENST00000392348,p.E447K|ENST00000532384,p.E449K|NM_001301038,p.E447K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ede.1	nonsynonymous SNV	exon5	c.G1339A	p.E447K	KYKSKVSLKGNRESDGFREEKNYKL	KYKSKVSLKGNRKSDGFREEKNYKL	10.0	1.0	unscreened	-	3466_6:136597318-136597318 C>T_KYKSKVSLKGNRKSDGFREEKNYKL
1:21050693-21050693 G>A	0.0	3466	MELANOMA	-	-	-	-	SH2D5	NM_001103161,p.P228S|ENST00000444387,p.P228S|ENST00000375031,p.P144S|NM_001103160,p.P144S|uc001bdt.1,p.P144S|uc009vpy.1,p.P228S	protein_coding, processed_transcript	uc009vpy.1	nonsynonymous SNV	exon7	c.C682T	p.P228S	SEGRARHARLGNPYCSPTLVRKKAI	SEGRARHARLGNSYCSPTLVRKKAI	1.0	2.0	unscreened	-	3466_1:21050693-21050693 G>A_SEGRARHARLGNSYCSPTLVRKKAI
11:55926911-55926911 C>T	0.0	3466	MELANOMA	-	-	-	-	OR8K5	uc010rja.2,p.E295K|NM_001004058,p.E295K|ENST00000313447,p.E295K	protein_coding	uc010rja.2	nonsynonymous SNV	exon1	c.G883A	p.E295K	PMLNPLIYSLRNEEVKNAFYKLFEN	PMLNPLIYSLRNKEVKNAFYKLFEN	1.0	5.0	unscreened	-	3466_11:55926911-55926911 C>T_PMLNPLIYSLRNKEVKNAFYKLFEN
4:40351329-40351329 G>A	0.0	3466	MELANOMA	-	-	-	-	CHRNA9	NM_017581,p.G266R|ENST00000310169,p.G266R|uc003gva.2,p.G266R	protein_coding, processed_transcript	uc003gva.2	nonsynonymous SNV	exon4	c.G796A	p.G266R	LAPLSFYLPAASGEKVSLGVTILLA	LAPLSFYLPAASREKVSLGVTILLA	1.0	9.0	unscreened	-	3466_4:40351329-40351329 G>A_LAPLSFYLPAASREKVSLGVTILLA
11:113283573-113283573 C>T	1.0	3466	MELANOMA	-	-	-	-	DRD2	NM_016574,p.M252I|uc001pob.4,p.M252I|ENST00000346454,p.M252I	retained_intron, protein_coding, processed_transcript	uc001pob.4	nonsynonymous SNV	exon6	c.G756A	p.M252I	LKEAARRAQELEMEMLSSTSPPERT	LKEAARRAQELEIEMLSSTSPPERT	3.0	3.0	unscreened	-	3466_11:113283573-113283573 C>T_LKEAARRAQELEIEMLSSTSPPERT
2:196824986-196824986 C>T	0.0	3466	MELANOMA	-	-	-	-	DNAH7	NM_018897,p.M963I|uc002utj.4,p.M963I|ENST00000312428,p.M963I	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon18	c.G2889A	p.M963I	RGSPFIKPYEKQMREWEGKLLLLQE	RGSPFIKPYEKQIREWEGKLLLLQE	1.0	8.0	unscreened	-	3466_2:196824986-196824986 C>T_RGSPFIKPYEKQIREWEGKLLLLQE
21:39772454-39772454 G>A	0.0	3466	MELANOMA	-	-	-	1	ERG	NM_001291391,p.P270S|uc002yxc.4,p.P270S	retained_intron, protein_coding, processed_transcript	uc002yxc.4	nonsynonymous SNV	exon8	c.C808T	p.P270S	KTPLCDLFIERHPRCPAEIRALSHV	KTPLCDLFIERHSRCPAEIRALSHV	5.0	8.0	unscreened	-	3466_21:39772454-39772454 G>A_KTPLCDLFIERHSRCPAEIRALSHV
11:113270679-113270679 T>A	0.0	3466	MELANOMA	-	-	-	-	ANKK1	ENST00000303941,p.L663H|NM_178510,p.L663H|uc001pny.3,p.L663H	protein_coding, nonsense_mediated_decay	uc001pny.3	nonsynonymous SNV	exon8	c.T1988A	p.L663H	DPNAAEQSGWTPLHLAVQRSTFLSV	DPNAAEQSGWTPHHLAVQRSTFLSV	1.0	5.0	unscreened	-	3466_11:113270679-113270679 T>A_DPNAAEQSGWTPHHLAVQRSTFLSV
2:209308228-209308228 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1691889;OCCURENCE=1(skin)	-	PTH2R	uc010zjb.2,p.S233F|NM_005048,p.S222F|ENST00000272847,p.S222F|uc002vdb.4,p.S222F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zjb.2	nonsynonymous SNV	exon6	c.C698T	p.S233F	LESLIMQDDPQNSIEATSVDKSQYI	LESLIMQDDPQNFIEATSVDKSQYI	1.0	8.0	unscreened	-	3466_2:209308228-209308228 C>T_LESLIMQDDPQNFIEATSVDKSQYI
10:103898911-103898911 G>A	1.0	3466	MELANOMA	-	-	-	-	PPRC1	uc001kum.3,p.E216K|NM_015062,p.E216K|NM_001288728,p.E96K|uc010qqj.2,p.E216K|ENST00000278070,p.E216K|ENST00000413464,p.E216K|uc001kun.3,p.E96K|NM_001288727,p.E216K	protein_coding, processed_transcript	uc010qqj.2	nonsynonymous SNV	exon5	c.G646A	p.E216K	DPSWDFSPPSFLETSSPKLPSWRPP	DPSWDFSPPSFLKTSSPKLPSWRPP	8.0	4.0	-	-	3466_10:103898911-103898911 G>A_DPSWDFSPPSFLKTSSPKLPSWRPP
10:90562794-90562794 G>A	0.0	3466	MELANOMA	-	-	-	-	LIPM	uc009xtm.1,p.M47I|ENST00000404743,p.M47I|NM_001128215,p.M47I	protein_coding	uc009xtm.1	nonsynonymous SNV	exon1	c.G141A	p.M47I	HMPTKAVDPEAFMNISEIIQHQGYP	HMPTKAVDPEAFINISEIIQHQGYP	1.0	6.0	unscreened	-	3466_10:90562794-90562794 G>A_HMPTKAVDPEAFINISEIIQHQGYP
18:28979385-28979385 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1711139,COSM1711138;OCCURENCE=1(skin)	-	DSG4	uc002kwr.2,p.H386Y|uc002kwq.2,p.H386Y|NM_177986,p.H386Y|ENST00000359747,p.H386Y|NM_001134453,p.H386Y|ENST00000308128,p.H386Y	protein_coding	uc002kwr.2	nonsynonymous SNV	exon9	c.C1156T	p.H386Y	IQVVDVREGPAFHPSTMAFSVREGI	IQVVDVREGPAFYPSTMAFSVREGI	1.0	6.0	unscreened	-	3466_18:28979385-28979385 C>T_IQVVDVREGPAFYPSTMAFSVREGI
2:48915936-48915936 C>T	0.0	3466	MELANOMA	-	-	-	-	LHCGR	uc002rwu.4,p.G334S|ENST00000344775,p.G272S|ENST00000405626,p.G307S|ENST00000294954,p.G334S|NM_000233,p.G334S	protein_coding, processed_transcript, nonsense_mediated_decay	uc002rwu.4	nonsynonymous SNV	exon11	c.G1000A	p.G334S	AESELSGWDYEYGFCLPKTPRCAPE	AESELSGWDYEYSFCLPKTPRCAPE	1.0	4.0	unscreened	-	3466_2:48915936-48915936 C>T_AESELSGWDYEYSFCLPKTPRCAPE
2:228173945-228173945 A>T	0.0	3466	MELANOMA	-	-	-	-	COL4A3	ENST00000396578,p.I1556F|NM_000091,p.I1556F|uc002vom.2,p.I1556F|uc021vxt.1,p.I57F	retained_intron, protein_coding, processed_transcript	uc021vxt.1	nonsynonymous SNV	exon3	c.A169T	p.I57F	YISRCTVCEGPAIAIAVHSQTTDIP	YISRCTVCEGPAFAIAVHSQTTDIP	1.0	3.0	unscreened	-	3466_2:228173945-228173945 A>T_YISRCTVCEGPAFAIAVHSQTTDIP
11:5968871-5968871 C>T	0.0	3466	MELANOMA	-	-	-	-	OR56A3	ENST00000329564,p.P99S|uc010qzt.2,p.P99S|NM_001003443,p.P99S	protein_coding	uc010qzt.2	nonsynonymous SNV	exon1	c.C295T	p.P99S	TIFWFDLRPISFPACFLQMYIMNCF	TIFWFDLRPISFSACFLQMYIMNCF	1.0	8.0	unscreened	-	3466_11:5968871-5968871 C>T_TIFWFDLRPISFSACFLQMYIMNCF
12:106851026-106851026 C>T	1.0	3466	MELANOMA	-	-	-	-	POLR3B	uc001tlq.3,p.P744S|ENST00000539066,p.P744S|ENST00000228347,p.P802S|NM_001160708,p.P744S|uc001tlp.3,p.P802S|NM_018082,p.P802S	protein_coding	uc001tlq.3	nonsynonymous SNV	exon21	c.C2230T	p.P744S	VMGPMLDAATRKPIWRHEILDADGI	VMGPMLDAATRKSIWRHEILDADGI	4.0	9.0	unscreened	-	3466_12:106851026-106851026 C>T_VMGPMLDAATRKSIWRHEILDADGI
7:95657551-95657551 C>T	1.0	3466	MELANOMA	-	-	-	-	DYNC1I1	uc003uod.4,p.S345L|uc003uoc.4,p.S362L|ENST00000537881,p.S325L|ENST00000447467,p.S345L|uc003uob.3,p.S325L|NM_001278422,p.S325L|NM_001278421,p.S342L|uc010lfl.3,p.S351L|NM_001135557,p.S325L|ENST00000359388,p.S325L|uc003uoe.4,p.S342L|ENST00000437599,p.S342L|ENST00000457059,p.S345L|NM_004411,p.S362L|ENST00000324972,p.S362L|NM_001135556,p.S345L	protein_coding, processed_transcript	uc010lfl.3	nonsynonymous SNV	exon11	c.C1052T	p.S351L	RFHPNLVVGGTYSGQIVLWDNRSHR	RFHPNLVVGGTYLGQIVLWDNRSHR	4.0	8.0	unscreened	-	3466_7:95657551-95657551 C>T_RFHPNLVVGGTYLGQIVLWDNRSHR
14:56763648-56763648 C>T	0.0	3466	MELANOMA	-	-	-	-	PELI2	uc001xch.3,p.P343S|ENST00000267460,p.P343S|NM_021255,p.P343S	protein_coding	uc001xch.3	nonsynonymous SNV	exon6	c.C1027T	p.P343S	NERECPMCRTVGPYVPLWLGCEAGF	NERECPMCRTVGSYVPLWLGCEAGF	4.0	4.0	unscreened	-	3466_14:56763648-56763648 C>T_NERECPMCRTVGSYVPLWLGCEAGF
6:51936965-51936965 C>T	0.0	3466	MELANOMA	-	-	-	-	PKHD1	ENST00000371117,p.G184R|NM_170724,p.G184R|NM_138694,p.G184R|uc003pah.1,p.G184R|ENST00000340994,p.G184R|uc003pai.3,p.G184R	protein_coding	uc003pai.3	nonsynonymous SNV	exon8	c.G550A	p.G184R	EYIDSPVILEAQGDKWVTPCSLINR	EYIDSPVILEAQRDKWVTPCSLINR	1.0	1.0	unscreened	-	3466_6:51936965-51936965 C>T_EYIDSPVILEAQRDKWVTPCSLINR
6:29012675-29012675 C>T	0.0	3466	MELANOMA	-	-	-	-	OR2W1	ENST00000377175,p.S93N|NM_030903,p.S93N|uc003nlw.2,p.S93N	protein_coding	uc003nlw.2	nonsynonymous SNV	exon1	c.G278A	p.S93N	MLVNLWGPDKTISYVGCIIQLYVYM	MLVNLWGPDKTINYVGCIIQLYVYM	1.0	9.0	unscreened	-	3466_6:29012675-29012675 C>T_MLVNLWGPDKTINYVGCIIQLYVYM
3:111782402-111782402 C>T	0.0	3466	MELANOMA	-	-	-	-	TMPRSS7	uc010hqb.2,p.S367F|ENST00000452346,p.S493F|ENST00000419127,p.S367F|uc011bhr.1,p.S222F|NM_001042575,p.S367F	protein_coding, nonsense_mediated_decay	uc011bhr.1	nonsynonymous SNV	exon11	c.C665T	p.S222F	SQPCPVGSFRCSSGLCVPQAQRCDG	SQPCPVGSFRCSFGLCVPQAQRCDG	1.0	4.0	unscreened	-	3466_3:111782402-111782402 C>T_SQPCPVGSFRCSFGLCVPQAQRCDG
6:127911350-127911350 G>A	0.0	3466	MELANOMA	-	-	-	-	C6orf58	uc003qbh.4,p.G265S|ENST00000329722,p.G265S|NM_001010905,p.G265S	protein_coding, processed_transcript	uc003qbh.4	nonsynonymous SNV	exon5	c.G793A	p.G265S	PTTLIRSYKFQKGMPPRILLNTDVA	PTTLIRSYKFQKSMPPRILLNTDVA	1.0	9.0	unscreened	-	3466_6:127911350-127911350 G>A_PTTLIRSYKFQKSMPPRILLNTDVA
4:8082418-8082418 G>A	0.0	3466	MELANOMA	-	-	-	-	ABLIM2	ENST00000447017,p.A189V|uc003gkj.4,p.A189V|uc003gkq.3,p.A189V|NM_001130088,p.A189V|ENST00000428004,p.A189V|ENST00000361737,p.A189V|uc003gkp.3,p.A189V|uc003gkr.3,p.A189V|NM_001130084,p.A189V|NM_032432,p.A189V|NM_001130086,p.A189V|ENST00000361581,p.A189V|NM_001130083,p.A189V|ENST00000505872,p.A189V|uc011bwl.1,p.A194V|ENST00000296372,p.A189V|uc003gkm.4,p.A189V|ENST00000546334,p.A189V|uc003gko.3,p.A189V|ENST00000407564,p.A189V|ENST00000545242,p.A189V|uc003gks.3,p.A189V|NM_001130085,p.A189V|ENST00000341937,p.A189V|NM_001130087,p.A189V	retained_intron, protein_coding, processed_transcript	uc011bwl.1	nonsynonymous SNV	exon5	c.C581T	p.A194V	CFKCKSCGKLLNAEYISKDGLPYCE	CFKCKSCGKLLNVEYISKDGLPYCE	2.0	9.0	unscreened	-	3466_4:8082418-8082418 G>A_CFKCKSCGKLLNVEYISKDGLPYCE
14:70420232-70420232 G>A	0.0	3466	MELANOMA	-	-	-	-	SMOC1	uc001xls.2,p.D121N|ENST00000361956,p.D121N|uc001xlt.2,p.D121N|NM_022137,p.D121N|ENST00000381280,p.D121N|NM_001034852,p.D121N	retained_intron, protein_coding, processed_transcript	uc001xlt.2	nonsynonymous SNV	exon3	c.G361A	p.D121N	PQEAVFVPECGEDGSFTQVQCHTYT	PQEAVFVPECGENGSFTQVQCHTYT	5.0	6.0	unscreened	-	3466_14:70420232-70420232 G>A_PQEAVFVPECGENGSFTQVQCHTYT
1:158389972-158389972 G>A	0.0	3466	MELANOMA	-	-	-	-	OR10K2	ENST00000314902,p.P229S|uc010pii.2,p.P229S|NM_001004476,p.P229S	protein_coding	uc010pii.2	nonsynonymous SNV	exon1	c.C685T	p.P229S	SYVHILSAILQFPSTLGRCKAFSTC	SYVHILSAILQFSSTLGRCKAFSTC	1.0	7.0	unscreened	-	3466_1:158389972-158389972 G>A_SYVHILSAILQFSSTLGRCKAFSTC
3:124196158-124196158 G>A	0.0	3466	MELANOMA	-	-	-	-	KALRN	uc003ehf.1,p.E1388K|ENST00000240874,p.E1388K|uc003ehg.3,p.E1388K|uc010hrv.1,p.E1379K|NM_001024660,p.E1388K|NM_003947,p.E1388K|uc003ehh.1,p.E734K|ENST00000360013,p.E1388K|ENST00000460856,p.E1379K|uc011bjy.1,p.E1379K	retained_intron, protein_coding, processed_transcript	uc011bjy.1	nonsynonymous SNV	exon27	c.G4135A	p.E1379K	CKNKPDSNQLILEHAGTFFDEIQQR	CKNKPDSNQLILKHAGTFFDEIQQR	6.0	6.0	unscreened	-	3466_3:124196158-124196158 G>A_CKNKPDSNQLILKHAGTFFDEIQQR
1:11596620-11596620 C>T	0.0	3466	MELANOMA	-	-	-	-	PTCHD2	ENST00000304391,p.P239S	protein_coding, processed_transcript	ENST00000304391	nonsynonymous SNV	exon5	c.C715T	p.P239S	AGHHGAQLFHSDPDFLPQGPGCRAA	AGHHGAQLFHSDSDFLPQGPGCRAA	1.0	1.0	unscreened	-	3466_1:11596620-11596620 C>T_AGHHGAQLFHSDSDFLPQGPGCRAA
11:60468545-60468545 C>T	0.0	3466	MELANOMA	-	-	-	-	MS4A8	NM_031457,p.T71I|uc009yne.1,p.T71I|ENST00000300226,p.T71I|uc001npv.3,p.T71I|ENST00000529752,p.T71I	retained_intron, protein_coding, nonsense_mediated_decay	uc009yne.1	nonsynonymous SNV	exon2	c.C212T	p.T71I	GQPVQKALKEGKTLGAIQIIIGLAH	GQPVQKALKEGKILGAIQIIIGLAH	1.0	8.0	unscreened	-	3466_11:60468545-60468545 C>T_GQPVQKALKEGKILGAIQIIIGLAH
5:78415084-78415084 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1070388;OCCURENCE=1(pancreas),1(endometrium)	-	BHMT	uc003kfu.4,p.R57C|NM_001713,p.R57C|ENST00000274353,p.R57C	retained_intron, protein_coding	uc003kfu.4	nonsynonymous SNV	exon3	c.C169T	p.R57C	TPEAAVEHPEAVRQLHREFLRAGSN	TPEAAVEHPEAVCQLHREFLRAGSN	1.0	9.0	unscreened	-	3466_5:78415084-78415084 C>T_TPEAAVEHPEAVCQLHREFLRAGSN
2:70515313-70515313 C>T	1.0	3466	MELANOMA	-	-	-	-	SNRPG	ENST00000454893,p.G23S|ENST00000272348,p.G23S|NM_003096,p.G23S|uc002sgp.3,p.G23S	retained_intron, protein_coding, processed_transcript	uc002sgp.3	nonsynonymous SNV	exon3	c.G67A	p.G23S	KFMDKKLSLKLNGGRHVQGILRGFD	KFMDKKLSLKLNSGRHVQGILRGFD	5.0	2.0	-	-	3466_2:70515313-70515313 C>T_KFMDKKLSLKLNSGRHVQGILRGFD
2:70515313-70515313 C>T	1.0	3466	MELANOMA	-	-	-	-	SNRPG	ENST00000413456,p.G15S	retained_intron, protein_coding, processed_transcript	ENST00000413456	nonsynonymous SNV	exon3	c.G43A	p.G15S	LFMDKKLSLKLNGGRHVQGILRGFD	LFMDKKLSLKLNSGRHVQGILRGFD	5.0	2.0	unscreened	-	3466_2:70515313-70515313 C>T_LFMDKKLSLKLNSGRHVQGILRGFD
1:226125178-226125178 G>A	0.0	3466	MELANOMA	-	-	-	-	LEFTY2	uc001hpt.2,p.S355L|ENST00000420304,p.S321L|NM_001172425,p.S321L|uc010pvk.2,p.S321L|ENST00000366820,p.S355L|NM_003240,p.S355L	protein_coding, processed_transcript	uc010pvk.2	nonsynonymous SNV	exon5	c.C962T	p.S321L	LPNMRVQKCSCASDGALVPRRLQP	LPNMRVQKCSCALDGALVPRRLQP	1.0	2.0	unscreened	-	3466_1:226125178-226125178 G>A_LPNMRVQKCSCALDGALVPRRLQP
11:1017676-1017676 T>A	0.0	3466	MELANOMA	-	-	-	-	MUC6	uc001lsw.2,p.T1709S|ENST00000421673,p.T1709S|NM_005961,p.T1709S	protein_coding	uc001lsw.2	nonsynonymous SNV	exon31	c.A5125T	p.T1709S	HTSSTHHAEATSTSTTNITPNPTST	HTSSTHHAEATSSSTTNITPNPTST	1.0	1.0	unscreened	-	3466_11:1017676-1017676 T>A_HTSSTHHAEATSSSTTNITPNPTST
1:78383879-78383879 A>T	1.0	3466	MELANOMA	-	-	-	-	NEXN	uc001dia.3,p.E123V|uc001dic.4,p.E123V|uc009wcb.1,p.E59V|NM_144573,p.E123V|ENST00000334785,p.E123V|ENST00000330010,p.E59V|uc001dib.4,p.E59V|ENST00000401035,p.E59V|NM_001172309,p.E59V|ENST00000440324,p.E123V|ENST00000457030,p.E123V|ENST00000294624,p.E123V|uc001did.1,p.E47V|uc001dif.1,p.E15V	protein_coding, processed_transcript	uc009wcb.1	nonsynonymous SNV	exon4	c.A176T	p.E59V	KQRQEEQRKRTEEERKRRIEQDMLE	KQRQEEQRKRTEVERKRRIEQDMLE	5.0	2.0	-	-	3466_1:78383879-78383879 A>T_KQRQEEQRKRTEVERKRRIEQDMLE
2:31000441-31000441 C>T	0.0	3466	MELANOMA	-	-	-	-	CAPN13	ENST00000534090,p.G88E|uc021vfm.1,p.G88E|uc002rnp.1,p.G88E|uc021vfn.1,p.G88E|NM_144575,p.G88E|ENST00000458085,p.G88E|ENST00000295055,p.G88E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vfn.1	nonsynonymous SNV	exon2	c.G263A	p.G88E	ILDDISRFDIQQGGAADCWFLAALG	ILDDISRFDIQQEGAADCWFLAALG	1.0	7.0	unscreened	-	3466_2:31000441-31000441 C>T_ILDDISRFDIQQEGAADCWFLAALG
20:57829185-57829185 C>T	0.0	3466	MELANOMA	-	-	ID=COSM110307;OCCURENCE=3(skin)	-	ZNF831	uc002yan.3,p.S1474F|NM_178457,p.S1474F|ENST00000371030,p.S1474F	protein_coding	uc002yan.3	nonsynonymous SNV	exon5	c.C4421T	p.S1474F	KPYIFSDAQRPSSFGSKGTFPHHDI	KPYIFSDAQRPSFFGSKGTFPHHDI	2.0	6.0	unscreened	-	3466_20:57829185-57829185 C>T_KPYIFSDAQRPSFFGSKGTFPHHDI
6:125397806-125397806 C>T	1.0	3466	MELANOMA	-	-	-	-	RNF217	uc003pzs.3,p.H137Y|ENST00000521654,p.H429Y|NM_001286398,p.H429Y|ENST00000560949,p.H194Y|ENST00000275184,p.H73Y|uc003pzr.3,p.H194Y|NM_152553,p.H137Y|ENST00000359704,p.H137Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pzs.3	nonsynonymous SNV	exon6	c.C409T	p.H137Y	QRNAQKCPKCKIHIQRTEGCDHMTC	QRNAQKCPKCKIYIQRTEGCDHMTC	8.0	9.0	-	-	3466_6:125397806-125397806 C>T_QRNAQKCPKCKIYIQRTEGCDHMTC
5:1032312-1032312 C>G	0.0	3466	MELANOMA	-	-	-	-	NKD2	NM_001271082,p.Q63E|uc010itf.2,p.Q63E|ENST00000274150,p.Q63E|NM_033120,p.Q63E|ENST00000296849,p.Q63E|uc003jbt.2,p.Q63E|ENST00000537972,p.Q63E	retained_intron, protein_coding	uc010itf.2	nonsynonymous SNV	exon4	c.C187G	p.Q63E	NGDPKEGPFREDQCPLQVALPAEKA	NGDPKEGPFREDECPLQVALPAEKA	2.0	2.0	unscreened	-	3466_5:1032312-1032312 C>G_NGDPKEGPFREDECPLQVALPAEKA
11:113283573-113283573 C>T	1.0	3466	MELANOMA	-	-	-	-	DRD2	ENST00000355319,p.M283I|ENST00000538967,p.M283I	retained_intron, protein_coding, processed_transcript	ENST00000538967	nonsynonymous SNV	exon7	c.G849A	p.M283I	VQEAARRAQELEMEMLSSTSPPERT	VQEAARRAQELEIEMLSSTSPPERT	3.0	3.0	unscreened	-	3466_11:113283573-113283573 C>T_VQEAARRAQELEIEMLSSTSPPERT
11:113283573-113283573 C>T	1.0	3466	MELANOMA	-	-	-	-	DRD2	ENST00000544518,p.M280I|uc010rwv.2,p.M280I|NM_000795,p.M281I|uc001poa.4,p.M281I|ENST00000362072,p.M281I|ENST00000542968,p.M281I|uc001pnz.3,p.M281I	retained_intron, protein_coding, processed_transcript	uc010rwv.2	nonsynonymous SNV	exon6	c.G840A	p.M280I	RVEAARRAQELEMEMLSSTSPPERT	RVEAARRAQELEIEMLSSTSPPERT	3.0	3.0	unscreened	-	3466_11:113283573-113283573 C>T_RVEAARRAQELEIEMLSSTSPPERT
17:18178276-18178276 G>A	1.0	3466	MELANOMA	-	-	-	-	TOP3A	uc010vxr.1,p.S479F|ENST00000321105,p.S949F|uc002gsx.1,p.S949F|uc010vxs.1,p.S847F|uc002gsw.1,p.S401F|uc010cpz.1,p.S401F|ENST00000580095,p.S924F|ENST00000542570,p.S854F|NM_004618,p.S949F|ENST00000540524,p.S479F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vxs.1	nonsynonymous SNV	exon18	c.C2540T	p.S847F	DENTAPGTSGAPSWTGDRGRTLESE	DENTAPGTSGAPFWTGDRGRTLESE	8.0	9.0	-	-	3466_17:18178276-18178276 G>A_DENTAPGTSGAPFWTGDRGRTLESE
19:39805109-39805109 G>A	0.0	3466	MELANOMA	-	-	-	-	LRFN1	ENST00000248668,p.P290S|uc002okw.2,p.P290S|NM_020862,p.P290S	protein_coding	uc002okw.2	nonsynonymous SNV	exon1	c.C868T	p.P290S	PEHLTDRYFWSIPEEEFLCEPPLIT	PEHLTDRYFWSISEEEFLCEPPLIT	1.0	1.0	unscreened	-	3466_19:39805109-39805109 G>A_PEHLTDRYFWSISEEEFLCEPPLIT
1:24421424-24421424 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1216493;OCCURENCE=1(large_intestine)	-	MYOM3	ENST00000330966,p.R284C|uc001bio.3,p.R283C|NM_152372,p.R283C|uc001bin.4,p.R283C|ENST00000329601,p.R283C|ENST00000374434,p.R283C	protein_coding, processed_transcript	uc001bio.3	nonsynonymous SNV	exon9	c.C847T	p.R283C	VEFTSVLKPVFAREKEPFSLSCLFS	VEFTSVLKPVFACEKEPFSLSCLFS	2.0	8.0	unscreened	-	3466_1:24421424-24421424 G>A_VEFTSVLKPVFACEKEPFSLSCLFS
16:81077824-81077824 T>G	1.0	3466	MELANOMA	-	-	-	-	ATMIN	uc010vnn.1,p.M345R|uc002fga.2,p.M416R|ENST00000299575,p.M574R|uc002fgb.1,p.M416R|ENST00000566488,p.M418R|NM_001300728,p.M418R|ENST00000564241,p.M418R|uc002ffz.1,p.M574R|NM_015251,p.M574R	retained_intron, protein_coding, processed_transcript	uc010vnn.1	nonsynonymous SNV	exon3	c.T1034G	p.M345R	SAPIINFSAQNSMLPSQNMTDNQTQ	SAPIINFSAQNSRLPSQNMTDNQTQ	8.0	2.0	-	-	3466_16:81077824-81077824 T>G_SAPIINFSAQNSRLPSQNMTDNQTQ
4:122853758-122853758 C>T	0.0	3466	MELANOMA	-	-	ID=COSM3781917,COSM3781916;OCCURENCE=1(pancreas)	-	TRPC3	NM_003305,p.D146N|ENST00000506449,p.D146N|uc003ief.2,p.D146N|uc003ieg.2,p.D219N|ENST00000513531,p.D146N|uc010inr.2,p.D146N|ENST00000379645,p.D219N|ENST00000264811,p.D146N|NM_001130698,p.D219N	protein_coding, nonsense_mediated_decay	uc010inr.2	nonsynonymous SNV	exon1	c.G436A	p.D146N	TLSPCEQELQDDDFYAYDEDGTRFS	TLSPCEQELQDDNFYAYDEDGTRFS	1.0	5.0	unscreened	-	3466_4:122853758-122853758 C>T_TLSPCEQELQDDNFYAYDEDGTRFS
19:57641786-57641786 G>A	0.0	3466	MELANOMA	-	-	ID=COSM3540315;OCCURENCE=1(oesophagus)	-	USP29	ENST00000598197,p.M581I|uc021vci.1,p.M581I|NM_020903,p.M581I|ENST00000254181,p.M581I|uc002qny.3,p.M581I	protein_coding	uc021vci.1	nonsynonymous SNV	exon1	c.G1743A	p.M581I	MISEINSPLTPSMKLTSESSDSLVL	MISEINSPLTPSIKLTSESSDSLVL	1.0	2.0	unscreened	-	3466_19:57641786-57641786 G>A_MISEINSPLTPSIKLTSESSDSLVL
11:5373539-5373539 C>T	0.0	3466	MELANOMA	-	-	-	-	OR51B6	NM_001004750,p.H268Y|uc010qzb.2,p.H268Y|ENST00000380219,p.H268Y	protein_coding	uc010qzb.2	nonsynonymous SNV	exon1	c.C802T	p.H268Y	LTFIHRFGKHVPHVVHITMSYIHFL	LTFIHRFGKHVPYVVHITMSYIHFL	1.0	7.0	unscreened	-	3466_11:5373539-5373539 C>T_LTFIHRFGKHVPYVVHITMSYIHFL
12:13526349-13526349 G>A	0.0	3466	MELANOMA	-	-	-	-	LINC01559	ENST00000527705,p.S69L|uc001rbs.2,p.S69L|ENST00000318426,p.S69L	protein_coding, processed_transcript	uc001rbs.2	nonsynonymous SNV	exon3	c.C206T	p.S69L	QRLWSNRFGNEESFPGRVRALVDTF	QRLWSNRFGNEELFPGRVRALVDTF	1.0	6.0	unscreened	-	3466_12:13526349-13526349 G>A_QRLWSNRFGNEELFPGRVRALVDTF
5:153078566-153078566 G>A	0.0	3466	MELANOMA	-	-	-	-	GRIA1	NM_001258020,p.G367E|NM_001258022,p.G472E|NM_001258021,p.G472E|NM_001258019,p.G382E|uc011dcx.2,p.G393E|ENST00000340592,p.G462E|uc010jia.1,p.G442E|uc003luy.4,p.G462E|ENST00000448073,p.G472E|ENST00000518142,p.G382E|ENST00000518783,p.G472E|NM_000827,p.G462E|NM_001114183,p.G462E|uc003luz.4,p.G367E|uc011dcy.2,p.G472E|ENST00000521843,p.G393E|ENST00000285900,p.G462E|uc011dcz.2,p.G472E|uc011dcw.2,p.G382E|uc003lva.4,p.G462E|NM_001258023,p.G393E	retained_intron, protein_coding, processed_transcript	uc011dcz.2	nonsynonymous SNV	exon10	c.G1415A	p.G472E	VGYSYRLEIVSDGKYGARDPDTKAW	VGYSYRLEIVSDEKYGARDPDTKAW	1.0	9.0	unscreened	-	3466_5:153078566-153078566 G>A_VGYSYRLEIVSDEKYGARDPDTKAW
7:87607726-87607726 C>T	0.0	3466	MELANOMA	-	-	-	-	ADAM22	ENST00000398204,p.H108Y|NM_021721,p.H108Y|ENST00000398203,p.H75Y|uc003ujj.2,p.H108Y|ENST00000398209,p.H108Y|ENST00000398201,p.H108Y|NM_021723,p.H108Y|uc003ujo.3,p.H108Y|uc003ujl.2,p.H108Y|NM_021722,p.H108Y|uc003ujp.1,p.H160Y|NM_004194,p.H108Y|ENST00000412441,p.H125Y|uc003ujk.2,p.H108Y|ENST00000265727,p.H108Y|uc003ujm.3,p.H108Y|uc003uji.2,p.H107Y|uc003ujn.3,p.H108Y|ENST00000439864,p.H108Y|NM_016351,p.H108Y|ENST00000315984,p.H108Y	protein_coding, processed_transcript	uc003ujp.1	nonsynonymous SNV	exon2	c.C478T	p.H160Y	FGTSFILDVVLNHDLLSSEYIERHI	FGTSFILDVVLNYDLLSSEYIERHI	2.0	8.0	unscreened	-	3466_7:87607726-87607726 C>T_FGTSFILDVVLNYDLLSSEYIERHI
17:27064724-27064724 G>A	0.0	3466	MELANOMA	-	-	-	-	NEK8	ENST00000543014,p.R340K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000543014	nonsynonymous SNV	exon5	c.G1019A	p.R340K	LQGREVRGPQQHREQDHQCPLQRYP	LQGREVRGPQQHKEQDHQCPLQRYP	3.0	9.0	unscreened	-	3466_17:27064724-27064724 G>A_LQGREVRGPQQHKEQDHQCPLQRYP
17:41004289-41004289 C>T	0.0	3466	MELANOMA	-	-	-	-	AOC3	NM_003734,p.P310L|uc002ibv.4,p.P310L|ENST00000308423,p.P310L|uc031rao.1,p.P310L|NM_001277731,p.P310L	protein_coding, nonsense_mediated_decay	uc031rao.1	nonsynonymous SNV	exon1	c.C929T	p.P310L	GSWSLKSPVPPGPAPPLQFYPQGPR	GSWSLKSPVPPGLAPPLQFYPQGPR	4.0	9.0	unscreened	-	3466_17:41004289-41004289 C>T_GSWSLKSPVPPGLAPPLQFYPQGPR
2:39553065-39553065 G>A	1.0	3466	MELANOMA	-	-	-	-	MAP4K3	NM_003618,p.P234S|ENST00000263881,p.P234S|ENST00000437545,p.P171S|ENST00000341681,p.P234S|NM_001270425,p.P234S|uc002rro.4,p.P234S|uc002rrp.4,p.P234S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002rrp.4	nonsynonymous SNV	exon10	c.C700T	p.P234S	ALFLMTKSNFQPPKLKDKMKWSNSF	ALFLMTKSNFQPSKLKDKMKWSNSF	7.0	3.0	-	-	3466_2:39553065-39553065 G>A_ALFLMTKSNFQPSKLKDKMKWSNSF
20:57896238-57896238 G>A	0.0	3466	MELANOMA	-	-	-	-	EDN3	uc002yao.1,p.D178N|ENST00000371025,p.D178N	protein_coding	uc002yao.1	nonsynonymous SNV	exon3	c.G532A	p.D178N	DKACLHFCTQTLDVSRLKSRTNKAS	DKACLHFCTQTLNVSRLKSRTNKAS	1.0	2.0	unscreened	-	3466_20:57896238-57896238 G>A_DKACLHFCTQTLNVSRLKSRTNKAS
1:237862318-237862318 G>A	0.0	3466	MELANOMA	-	-	-	-	RYR2	ENST00000360064,p.D3039N|ENST00000366574,p.D3041N|ENST00000542537,p.D3025N|uc001hyl.1,p.D3041N|NM_001035,p.D3041N	protein_coding, processed_transcript	uc001hyl.1	nonsynonymous SNV	exon64	c.G9121A	p.D3041N	IVNCLHILGQTLDARTVMKTGLESV	IVNCLHILGQTLNARTVMKTGLESV	2.0	1.0	unscreened	-	3466_1:237862318-237862318 G>A_IVNCLHILGQTLNARTVMKTGLESV
3:111604185-111604185 G>A	1.0	3466	MELANOMA	-	-	-	-	PHLDB2	ENST00000431670,p.G421R|ENST00000412622,p.G421R|uc003dyc.3,p.G448R|uc003dyg.3,p.G421R|NM_145753,p.G421R|ENST00000478922,p.G421R|ENST00000393923,p.G448R|NM_001134438,p.G421R|uc003dyf.4,p.G421R|ENST00000393925,p.G421R|uc003dyh.3,p.G421R|uc010hqa.3,p.G421R|ENST00000477695,p.G421R|NM_001134437,p.G448R|ENST00000498699,p.G421R|uc003dyd.3,p.G421R|NM_001134439,p.G421R|uc003dye.4,p.G421R|ENST00000481953,p.G421R	retained_intron, protein_coding, processed_transcript	uc010hqa.3	nonsynonymous SNV	exon2	c.G1261A	p.G421R	LRERKSSISSISGRDDLMDYHRRQR	LRERKSSISSISRRDDLMDYHRRQR	8.0	5.0	unscreened	-	3466_3:111604185-111604185 G>A_LRERKSSISSISRRDDLMDYHRRQR
2:152536242-152536242 G>C	0.0	3466	MELANOMA	-	-	-	-	NEB	ENST00000603639,p.A1083G|uc010fnx.3,p.A1083G|NM_001164508,p.A1083G|ENST00000172853,p.A1083G|uc002txu.3,p.A1083G|ENST00000604864,p.A1083G|ENST00000397345,p.A1083G|ENST00000427231,p.A1083G|uc021vrd.1,p.A1083G|uc031rpp.1,p.A1083G|NM_004543,p.A1083G|NM_001164507,p.A1083G|NM_001271208,p.A1083G|ENST00000409198,p.A1083G|uc021vrc.1,p.A1083G|uc021vrb.1,p.A1083G	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon32	c.C3248G	p.A1083G	IPIRAAKAARQAASDVQYKKDYEKA	IPIRAAKAARQAGSDVQYKKDYEKA	6.0	7.0	unscreened	-	3466_2:152536242-152536242 G>C_IPIRAAKAARQAGSDVQYKKDYEKA
19:31025807-31025807 C>T	1.0	3466	MELANOMA	-	-	-	-	ZNF536	uc002nsu.1,p.R742C|ENST00000355537,p.R742C|ENST00000585628,p.R742C|uc010edd.1,p.R742C|NM_014717,p.R742C	protein_coding, processed_transcript	uc010edd.1	nonsynonymous SNV	exon3	c.C2224T	p.R742C	GRSAGVQQPALLRDRSLGSAMKDCP	GRSAGVQQPALLCDRSLGSAMKDCP	7.0	8.0	unscreened	-	3466_19:31025807-31025807 C>T_GRSAGVQQPALLCDRSLGSAMKDCP
19:9010668-9010668 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1258204,COSM1258203;OCCURENCE=1(oesophagus)	2	MUC16	NM_024690,p.S12998F|ENST00000397910,p.S12998F|uc002mkp.3,p.S12998F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon38	c.C38993T	p.S12998F	TSTVDLGTSGTPSSLPSPTTAVPLL	TSTVDLGTSGTPFSLPSPTTAVPLL	1.0	7.0	unscreened	-	3466_19:9010668-9010668 G>A_TSTVDLGTSGTPFSLPSPTTAVPLL
18:31709954-31709954 A>T	0.0	3466	MELANOMA	-	-	-	-	NOL4	NM_001198546,p.L99I|uc010dmi.3,p.L99I|NM_003787,p.L99I|NM_001198548,p.L99I|uc010xbu.2,p.L99I|uc002kxt.4,p.L99I|ENST00000590712,p.L83I|ENST00000261592,p.L99I|ENST00000589544,p.L99I	protein_coding, processed_transcript, nonsense_mediated_decay	uc010xbu.2	nonsynonymous SNV	exon2	c.T295A	p.L99I	TTDGVGVDEKLSLRRVAVVEDFFDI	TTDGVGVDEKLSIRRVAVVEDFFDI	1.0	1.0	unscreened	-	3466_18:31709954-31709954 A>T_TTDGVGVDEKLSIRRVAVVEDFFDI
18:31709954-31709954 A>T	0.0	3466	MELANOMA	-	-	-	-	NOL4	ENST00000538587,p.L25I|uc010dmh.3,p.L25I|ENST00000591917,p.L25I|ENST00000586314,p.L25I|uc010xbt.2,p.L25I|NM_001198547,p.L25I	protein_coding, processed_transcript, nonsense_mediated_decay	uc010xbt.2	nonsynonymous SNV	exon2	c.T73A	p.L25I	ATDGVGVDEKLSLRRVAVVEDFFDI	ATDGVGVDEKLSIRRVAVVEDFFDI	1.0	1.0	unscreened	-	3466_18:31709954-31709954 A>T_ATDGVGVDEKLSIRRVAVVEDFFDI
2:169684709-169684709 A>T	0.0	3466	MELANOMA	-	-	-	-	NOSTRIN	ENST00000397209,p.K52I|NM_001039724,p.K80I|uc002uef.3,p.K80I|NM_001171632,p.K52I|ENST00000317647,p.K80I|uc002ueg.3,p.K80I|NM_001171631,p.K80I|ENST00000444448,p.K80I|ENST00000421711,p.K52I|ENST00000458381,p.K80I|uc010fpu.3,p.K52I	retained_intron, protein_coding, nonsense_mediated_decay	uc010fpu.3	nonsynonymous SNV	exon3	c.A155T	p.K52I	VSSAWAWASEGMKSTADLHQKLGKA	VSSAWAWASEGMISTADLHQKLGKA	2.0	3.0	unscreened	-	3466_2:169684709-169684709 A>T_VSSAWAWASEGMISTADLHQKLGKA
11:60468545-60468545 C>T	0.0	3466	MELANOMA	-	-	-	-	MS4A8	ENST00000532816,p.T71I	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000532816	nonsynonymous SNV	exon2	c.C212T	p.T71I	GQPVQKALKEGKTLGAFSERERKAT	GQPVQKALKEGKILGAFSERERKAT	1.0	8.0	unscreened	-	3466_11:60468545-60468545 C>T_GQPVQKALKEGKILGAFSERERKAT
19:9065230-9065230 G>A	0.0	3466	MELANOMA	-	-	-	2	MUC16	NM_024690,p.P7406S|ENST00000397910,p.P7406S|uc002mkp.3,p.P7406S	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C22216T	p.P7406S	SQLSLSAMISPSPVSSTLPASSHSS	SQLSLSAMISPSSVSSTLPASSHSS	1.0	6.0	unscreened	-	3466_19:9065230-9065230 G>A_SQLSLSAMISPSSVSSTLPASSHSS
X:84526358-84526358 G>A	0.0	3466	MELANOMA	-	-	-	-	ZNF711	ENST00000373165,p.D604N|ENST00000360700,p.D650N|uc004eep.3,p.D604N|NM_021998,p.D604N|uc004eeq.3,p.D650N|ENST00000395402,p.D612N|ENST00000276123,p.D604N|uc011mqy.1,p.D203N|ENST00000542798,p.D446N|uc004eeo.3,p.D604N	protein_coding	uc011mqy.1	nonsynonymous SNV	exon3	c.G607A	p.D203N	CPHCDHKSTNSSDLKRHIISVHTKD	CPHCDHKSTNSSNLKRHIISVHTKD	3.0	1.0	unscreened	-	3466_X:84526358-84526358 G>A_CPHCDHKSTNSSNLKRHIISVHTKD
18:48252542-48252542 C>T	0.0	3466	MELANOMA	-	-	-	-	MAPK4	uc010xdm.2,p.S144F|uc002lev.3,p.S355F|NM_001292039,p.S144F|NM_002747,p.S355F|ENST00000540640,p.S144F|ENST00000400384,p.S355F	protein_coding, processed_transcript	uc010xdm.2	nonsynonymous SNV	exon4	c.C431T	p.S144F	NQSQLSNWDTCSSRYPVSLSSDLEW	NQSQLSNWDTCSFRYPVSLSSDLEW	1.0	4.0	unscreened	-	3466_18:48252542-48252542 C>T_NQSQLSNWDTCSFRYPVSLSSDLEW
19:7936386-7936386 G>A	0.0	3466	MELANOMA	-	-	-	-	PRR36	ENST00000539422,p.L582F	protein_coding, processed_transcript	ENST00000539422	nonsynonymous SNV	exon5	c.C1744T	p.L582F	SMTTPPMQAPPSLQTIPPIQVPHSL	SMTTPPMQAPPSFQTIPPIQVPHSL	1.0	8.0	unscreened	-	3466_19:7936386-7936386 G>A_SMTTPPMQAPPSFQTIPPIQVPHSL
12:5154763-5154763 G>A	0.0	3466	MELANOMA	-	-	-	-	KCNA5	NM_002234,p.G484R|ENST00000252321,p.G484R|uc001qni.4,p.G484R	protein_coding	uc001qni.4	nonsynonymous SNV	exon1	c.G1450A	p.G484R	WWAVVTMTTVGYGDMRPITVGGKIV	WWAVVTMTTVGYRDMRPITVGGKIV	1.0	4.0	unscreened	-	3466_12:5154763-5154763 G>A_WWAVVTMTTVGYRDMRPITVGGKIV
1:89835185-89835185 C>T	0.0	3466	MELANOMA	-	-	-	-	GBP6	uc001dnf.2,p.H91Y|NM_198460,p.H91Y|ENST00000370456,p.H91Y	protein_coding, processed_transcript	uc001dnf.2	nonsynonymous SNV	exon3	c.C271T	p.H91Y	WMWCVPHPSKPNHTLVLLDTEGLGD	WMWCVPHPSKPNYTLVLLDTEGLGD	1.0	2.0	unscreened	-	3466_1:89835185-89835185 C>T_WMWCVPHPSKPNYTLVLLDTEGLGD
12:47172511-47172511 G>A	0.0	3466	MELANOMA	-	-	-	-	SLC38A4	uc001rpj.2,p.H256Y|uc001rpi.2,p.H256Y|NM_001143824,p.H256Y|ENST00000266579,p.H256Y|ENST00000447411,p.H256Y|NM_018018,p.H256Y	protein_coding	uc001rpj.2	nonsynonymous SNV	exon10	c.C766T	p.H256Y	KFQIPCPLPVLDHSVGNLSFNNTLP	KFQIPCPLPVLDYSVGNLSFNNTLP	1.0	9.0	unscreened	-	3466_12:47172511-47172511 G>A_KFQIPCPLPVLDYSVGNLSFNNTLP
6:35544878-35544878 C>A	0.0	3466	MELANOMA	-	-	-	-	FKBP5	uc003oky.2,p.A387S|uc011dte.1,p.A387S|uc003okx.2,p.A387S|NM_001145775,p.A387S|ENST00000536438,p.A387S|ENST00000357266,p.A387S|ENST00000539068,p.A387S|ENST00000540787,p.A208S|uc011dtf.1,p.A208S|NM_001145776,p.A387S|NM_004117,p.A387S	protein_coding	uc011dtf.1	nonsynonymous SNV	exon6	c.G622T	p.A208S	EKVLEVNPQNKAARLQISMCQKKAK	EKVLEVNPQNKASRLQISMCQKKAK	5.0	9.0	unscreened	-	3466_6:35544878-35544878 C>A_EKVLEVNPQNKASRLQISMCQKKAK
1:71534983-71534983 G>A	1.0	3466	MELANOMA	-	-	ID=COSM912028,COSM912029;OCCURENCE=1(endometrium)	-	ZRANB2	NM_203350,p.S249L|ENST00000370920,p.S249L|ENST00000254821,p.S249L|uc001dft.3,p.S249L|uc001dfs.3,p.S249L|NM_005455,p.S249L	protein_coding, processed_transcript	uc001dft.3	nonsynonymous SNV	exon8	c.C746T	p.S249L	SQSRSRSSSRERSRSRGSKSRSSSR	SQSRSRSSSRERLRSRGSKSRSSSR	10.0	6.0	-	-	3466_1:71534983-71534983 G>A_SQSRSRSSSRERLRSRGSKSRSSSR
17:10296152-10296152 G>A	0.0	3466	MELANOMA	0.0027	-	-	-	MYH8	ENST00000403437,p.A1820V|uc002gmm.2,p.A1820V|NM_002472,p.A1820V	protein_coding	uc002gmm.2	nonsynonymous SNV	exon37	c.C5459T	p.A1820V	LKGGKKQIQKLEARVRELEGEVENE	LKGGKKQIQKLEVRVRELEGEVENE	3.0	9.0	unscreened	-	3466_17:10296152-10296152 G>A_LKGGKKQIQKLEVRVRELEGEVENE
13:46287834-46287834 C>T	0.0	3466	MELANOMA	-	-	-	-	SPERT	uc001van.1,p.S225F|ENST00000310521,p.S225F|NM_001286342,p.S189F|ENST00000378966,p.S189F|NM_152719,p.S225F|uc001vao.2,p.S189F|NM_001286341,p.S198F	protein_coding	uc001vao.2	nonsynonymous SNV	exon2	c.C566T	p.S189F	RAPSPLLHKDSASLEVVKKDHVALQ	RAPSPLLHKDSAFLEVVKKDHVALQ	1.0	9.0	unscreened	-	3466_13:46287834-46287834 C>T_RAPSPLLHKDSAFLEVVKKDHVALQ
1:89846004-89846004 C>T	0.0	3466	MELANOMA	-	-	-	-	GBP6	ENST00000370456,p.P229S|uc010ost.1,p.P99S|uc001dnf.2,p.P229S|NM_198460,p.P229S|ENST00000535065,p.P99S	protein_coding, processed_transcript	uc010ost.1	nonsynonymous SNV	exon4	c.C295T	p.P99S	SNFPRECIRRFFPKRKCFVFDRPTN	SNFPRECIRRFFSKRKCFVFDRPTN	1.0	2.0	unscreened	-	3466_1:89846004-89846004 C>T_SNFPRECIRRFFSKRKCFVFDRPTN
3:180379652-180379652 T>G	0.0	3466	MELANOMA	-	-	-	-	CCDC39	ENST00000442201,p.K118N|NM_181426,p.K118N|ENST00000273654,p.K202N|uc010hxe.3,p.K118N|ENST00000476379,p.K118N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010hxe.3	nonsynonymous SNV	exon3	c.A354C	p.K118N	NEMASILEKKSDKENGIFKATQKLD	NEMASILEKKSDNENGIFKATQKLD	1.0	6.0	unscreened	-	3466_3:180379652-180379652 T>G_NEMASILEKKSDNENGIFKATQKLD
X:140995642-140995642 C>T	0.0	3466	MELANOMA	-	-	-	-	MAGEC1	uc004fbt.3,p.P818S|uc022cfi.1,p.P477S|NM_005462,p.P818S|ENST00000285879,p.P818S	protein_coding	uc022cfi.1	nonsynonymous SNV	exon1	c.C1429T	p.P477S	AQSPLQSPVSSFPSSTSSSLSQSSP	AQSPLQSPVSSFSSSTSSSLSQSSP	1.0	9.0	unscreened	-	3466_X:140995642-140995642 C>T_AQSPLQSPVSSFSSSTSSSLSQSSP
1:237608761-237608761 G>A	0.0	3466	MELANOMA	-	-	-	-	RYR2	NM_001035,p.E411K|ENST00000360064,p.E409K|ENST00000542537,p.E395K|ENST00000366574,p.E411K|uc001hyl.1,p.E411K	protein_coding, processed_transcript	uc001hyl.1	nonsynonymous SNV	exon14	c.G1231A	p.E411K	MDDGISLSRSQHEESRTARVIRSTV	MDDGISLSRSQHKESRTARVIRSTV	2.0	1.0	unscreened	-	3466_1:237608761-237608761 G>A_MDDGISLSRSQHKESRTARVIRSTV
9:114475431-114475431 C>T	0.0	3466	MELANOMA	-	-	-	-	C9orf84	uc010mug.4,p.D675N|ENST00000394777,p.D675N|uc004bfr.3,p.D749N|NM_173521,p.D749N|ENST00000374287,p.D749N|ENST00000394779,p.D710N|ENST00000318737,p.D749N|NM_001080551,p.D710N|uc004bfq.3,p.D710N	protein_coding	uc010mug.4	nonsynonymous SNV	exon13	c.G2023A	p.D675N	QQQIKVLIIIRMDSDGEKHFLIKIL	QQQIKVLIIIRMNSDGEKHFLIKIL	1.0	9.0	unscreened	-	3466_9:114475431-114475431 C>T_QQQIKVLIIIRMNSDGEKHFLIKIL
17:27580769-27580769 G>A	0.0	3466	MELANOMA	-	-	-	-	CRYBA1	NM_005208,p.E157K|ENST00000225387,p.E157K|uc002hdw.3,p.E157K	protein_coding, nonsense_mediated_decay	uc002hdw.3	nonsynonymous SNV	exon5	c.G469A	p.E157K	YPSLQAMGWFNNEVGSMKIQSGAWV	YPSLQAMGWFNNKVGSMKIQSGAWV	1.0	9.0	unscreened	-	3466_17:27580769-27580769 G>A_YPSLQAMGWFNNKVGSMKIQSGAWV
3:447360-447360 G>A	0.0	3466	MELANOMA	-	-	-	-	CHL1	ENST00000397491,p.G1198E|NM_006614,p.G1214E|NM_001253388,p.G1161E|uc003bot.3,p.G1214E|NM_001253387,p.G1198E|ENST00000256509,p.G1214E|uc003bou.3,p.G1198E|uc011asi.2,p.G1161E	protein_coding, processed_transcript, nonsense_mediated_decay	uc011asi.2	nonsynonymous SNV	exon25	c.G3482A	p.G1161E	AGSKEKGSVESNGSSTATFPLRA	AGSKEKGSVESNESSTATFPLRA	2.0	6.0	unscreened	-	3466_3:447360-447360 G>A_AGSKEKGSVESNESSTATFPLRA
8:24253266-24253266 G>A	0.0	3466	MELANOMA	-	-	ID=COSM231707;OCCURENCE=1(skin)	-	ADAMDEC1	uc003xdz.2,p.E133K|ENST00000256412,p.E133K|uc011lab.1,p.E54K|NM_001145271,p.E54K|ENST00000538205,p.E54K|uc010lub.2,p.E54K|ENST00000522298,p.E54K|NM_001145272,p.E54K|NM_014479,p.E133K	protein_coding, processed_transcript, nonsense_mediated_decay	uc011lab.1	nonsynonymous SNV	exon4	c.G160A	p.E54K	MEHCYYKGNILNEKNSVASISTCDG	MEHCYYKGNILNKKNSVASISTCDG	8.0	8.0	unscreened	-	3466_8:24253266-24253266 G>A_MEHCYYKGNILNKKNSVASISTCDG
10:112581657-112581657 C>T	0.0	3466	MELANOMA	-	-	-	-	RBM20	NM_001134363,p.L1094F|ENST00000369519,p.L1094F|uc001kzf.2,p.L1094F	retained_intron, protein_coding, processed_transcript	uc001kzf.2	nonsynonymous SNV	exon11	c.C3280T	p.L1094F	LEEKASPPIETDLQNQACQEVLTPE	LEEKASPPIETDFQNQACQEVLTPE	3.0	6.0	unscreened	-	3466_10:112581657-112581657 C>T_LEEKASPPIETDFQNQACQEVLTPE
19:17737482-17737482 C>T	0.0	3466	MELANOMA	-	-	-	-	UNC13A	uc031rjv.1,p.D1343N	retained_intron, protein_coding	uc031rjv.1	nonsynonymous SNV	exon33	c.G4027A	p.D1343N	NVPASACSSVAQDADNVLQPIMDLL	NVPASACSSVAQNADNVLQPIMDLL	1.0	2.0	unscreened	-	3466_19:17737482-17737482 C>T_NVPASACSSVAQNADNVLQPIMDLL
19:9086543-9086543 G>A	0.0	3466	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.P1758S|NM_024690,p.P1758S|ENST00000397910,p.P1758S	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.C5272T	p.P1758S	STSIPLTSSPTTPDVEFIGGSTFWT	STSIPLTSSPTTSDVEFIGGSTFWT	1.0	8.0	unscreened	-	3466_19:9086543-9086543 G>A_STSIPLTSSPTTSDVEFIGGSTFWT
10:50960265-50960265 C>T	0.0	3466	MELANOMA	-	-	-	-	OGDHL	ENST00000419399,p.D113N|uc010qgt.2,p.D113N|uc009xog.3,p.D197N|NM_001143996,p.D113N|NM_018245,p.D170N|ENST00000374103,p.D170N|uc001jie.3,p.D170N	protein_coding, processed_transcript	uc010qgt.2	nonsynonymous SNV	exon4	c.G337A	p.D113N	KLAFYDLQEADLDKEFQLPTTTFIG	KLAFYDLQEADLNKEFQLPTTTFIG	1.0	7.0	unscreened	-	3466_10:50960265-50960265 C>T_KLAFYDLQEADLNKEFQLPTTTFIG
3:155271928-155271928 G>A	0.0	3466	MELANOMA	-	-	-	-	PLCH1	NM_001130961,p.T364I|uc021xgd.1,p.T364I|uc021xgf.1,p.T346I|ENST00000334686,p.T346I|ENST00000414191,p.T346I|ENST00000340059,p.T364I|ENST00000447496,p.T364I|NM_001130960,p.T364I|ENST00000494598,p.T364I|uc021xge.1,p.T364I|NM_014996,p.T346I|ENST00000460012,p.T346I	retained_intron, protein_coding	uc021xgf.1	nonsynonymous SNV	exon8	c.C1037T	p.T346I	DGEPVVHHGYTLTSKILFRDVVETI	DGEPVVHHGYTLISKILFRDVVETI	2.0	3.0	unscreened	-	3466_3:155271928-155271928 G>A_DGEPVVHHGYTLISKILFRDVVETI
11:63233724-63233724 C>T	0.0	3466	MELANOMA	-	-	-	-	HRASLS5	ENST00000540857,p.G192E|uc001nwy.2,p.G202E|NM_001146728,p.G202E|uc001nwz.2,p.G192E|ENST00000301790,p.G202E|NM_001146729,p.G192E|NM_054108,p.G202E|ENST00000539221,p.G202E|uc010rmq.1,p.G202E	protein_coding, nonsense_mediated_decay	uc010rmq.1	nonsynonymous SNV	exon5	c.G605A	p.G202E	HGCSWKVNNKLDGTYLPLPVDKIIQ	HGCSWKVNNKLDETYLPLPVDKIIQ	1.0	3.0	unscreened	-	3466_11:63233724-63233724 C>T_HGCSWKVNNKLDETYLPLPVDKIIQ
9:77277396-77277396 G>A	0.0	3466	MELANOMA	-	-	-	-	RORB	ENST00000396204,p.E267K|uc004ajh.3,p.E256K|NM_006914,p.E256K|ENST00000376896,p.E256K|uc004aji.3,p.E267K	protein_coding	uc004aji.3	nonsynonymous SNV	exon6	c.G799A	p.E267K	YEEIKAYQSKSREALWQQCAIQITH	YEEIKAYQSKSRKALWQQCAIQITH	1.0	9.0	unscreened	-	3466_9:77277396-77277396 G>A_YEEIKAYQSKSRKALWQQCAIQITH
8:3263717-3263717 G>A	0.0	3466	MELANOMA	-	-	-	-	CSMD1	ENST00000537824,p.P700S|uc022aqr.1,p.P700S|ENST00000520002,p.P701S|ENST00000542608,p.P700S|uc011kwj.2,p.P93S|ENST00000602723,p.P701S|ENST00000602557,p.P701S|ENST00000400186,p.P701S|ENST00000539096,p.P700S|NM_033225,p.P700S	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon15	c.C2098T	p.P700S	TYTTFGQNECHDPGIPINGRRFGDR	TYTTFGQNECHDSGIPINGRRFGDR	1.0	2.0	unscreened	-	3466_8:3263717-3263717 G>A_TYTTFGQNECHDSGIPINGRRFGDR
12:11138663-11138663 G>A	0.0	3466	MELANOMA	-	-	-	-	TAS2R50	NM_176890,p.A266V|ENST00000506868,p.A266V|uc001qzl.2,p.A266V	protein_coding	uc001qzl.2	nonsynonymous SNV	exon1	c.C797T	p.A266V	RLRNDPVVMVSKAVGNIYLAFDSFI	RLRNDPVVMVSKVVGNIYLAFDSFI	2.0	6.0	unscreened	-	3466_12:11138663-11138663 G>A_RLRNDPVVMVSKVVGNIYLAFDSFI
1:43770621-43770621 G>A	0.0	3466	MELANOMA	-	-	-	-	TIE1	uc010oke.2,p.G8D|NM_001253357,p.G8D	protein_coding, processed_transcript	uc010oke.2	nonsynonymous SNV	exon2	c.G23A	p.G8D	MWAGAGRGSDAWGPPLLLEK	MWAGAGRDSDAWGPPLLLEK	6.0	2.0	unscreened	-	3466_1:43770621-43770621 G>A_MWAGAGRDSDAWGPPLLLEK
8:27327448-27327448 A>T	0.0	3466	MELANOMA	-	-	-	-	CHRNA2	ENST00000523695,p.S42T|NM_001282455,p.S42T|ENST00000524096,p.S42T|NM_000742,p.S42T|ENST00000407991,p.S42T|ENST00000240132,p.S42T|uc010lur.3,p.S42T|uc011lal.2,p.S42T|ENST00000520933,p.S42T|ENST00000518712,p.S42T	retained_intron, protein_coding, nonsense_mediated_decay	uc011lal.2	nonsynonymous SNV	exon3	c.T124A	p.S42T	KRPPPRAPGDPLSSPSPTALPQGGS	KRPPPRAPGDPLTSPSPTALPQGGS	1.0	8.0	unscreened	-	3466_8:27327448-27327448 A>T_KRPPPRAPGDPLTSPSPTALPQGGS
4:138442398-138442398 G>A	0.0	3466	MELANOMA	-	-	-	-	PCDH18	uc011cgz.2,p.P276S|ENST00000507846,p.P844S|uc011cha.2,p.P245S|uc003ihf.4,p.P1057S|uc003ihe.4,p.P1065S|ENST00000412923,p.P1064S|NM_019035,p.P1065S|ENST00000511115,p.P245S|uc003ihg.4,p.P844S|ENST00000344876,p.P1065S|NM_001300828,p.P1064S|ENST00000510305,p.P276S	protein_coding	uc011cha.2	nonsynonymous SNV	exon4	c.C733T	p.P245S	VAAWAASTHFQNPTTNCGPPLGTHS	VAAWAASTHFQNSTTNCGPPLGTHS	5.0	2.0	unscreened	-	3466_4:138442398-138442398 G>A_VAAWAASTHFQNSTTNCGPPLGTHS
6:87725311-87725311 C>T	0.0	3466	MELANOMA	-	-	-	-	HTR1E	uc003pli.3,p.R87C|ENST00000369584,p.R87C|ENST00000305344,p.R87C|uc021zcg.1,p.R87C|NM_000865,p.R87C	protein_coding	uc021zcg.1	nonsynonymous SNV	exon1	c.C259T	p.R87C	VMPLSIIYIVMDRWKLGYFLCEVWL	VMPLSIIYIVMDCWKLGYFLCEVWL	1.0	9.0	unscreened	-	3466_6:87725311-87725311 C>T_VMPLSIIYIVMDCWKLGYFLCEVWL
4:173804029-173804029 G>A	0.0	3466	MELANOMA	-	-	-	-	GALNTL6	NM_001034845,p.G338R|uc003isv.3,p.G338R|ENST00000506823,p.G338R|ENST00000508122,p.G321R	protein_coding, processed_transcript	uc003isv.3	nonsynonymous SNV	exon8	c.G1012A	p.G338R	ELGGYDPGLEIWGGEQYEISFKVWM	ELGGYDPGLEIWRGEQYEISFKVWM	1.0	6.0	unscreened	-	3466_4:173804029-173804029 G>A_ELGGYDPGLEIWRGEQYEISFKVWM
8:67086725-67086725 C>T	0.0	3466	MELANOMA	-	-	-	-	TRIM55	uc003xvx.3,p.P208L|ENST00000350034,p.P208L|NM_184087,p.P208L	retained_intron, protein_coding	uc003xvx.3	nonsynonymous SNV	exon5	c.C623T	p.P208L	TCKTIEIGFEAPPLQGQAAAPASGS	TCKTIEIGFEAPLLQGQAAAPASGS	1.0	9.0	unscreened	-	3466_8:67086725-67086725 C>T_TCKTIEIGFEAPLLQGQAAAPASGS
9:117119188-117119188 A>T	1.0	3466	MELANOMA	-	-	-	-	AKNA	uc004bio.3,p.V394D|ENST00000374075,p.V853D|ENST00000223791,p.V394D|uc010mve.2,p.V815D|uc004bir.3,p.V934D|uc004bip.3,p.V853D|NM_030767,p.V934D|ENST00000307564,p.V934D|uc004bin.3,p.V181D|ENST00000374088,p.V934D|uc004bis.3,p.V934D|uc004biq.3,p.V934D	protein_coding, processed_transcript	uc010mve.2	nonsynonymous SNV	exon12	c.T2444A	p.V815D	TDSGFVGSETSRVSPLTQTPEHRLS	TDSGFVGSETSRDSPLTQTPEHRLS	7.0	9.0	unscreened	-	3466_9:117119188-117119188 A>T_TDSGFVGSETSRDSPLTQTPEHRLS
6:46047904-46047904 C>T	0.0	3466	MELANOMA	-	-	-	-	CLIC5	NM_001114086,p.E26K|uc003oxv.3,p.E26K|ENST00000185206,p.E26K	protein_coding, processed_transcript	uc003oxv.3	nonsynonymous SNV	exon1	c.G76A	p.E26K	QNERTYEVPDQPEENESPHYDDVHE	QNERTYEVPDQPKENESPHYDDVHE	2.0	9.0	unscreened	-	3466_6:46047904-46047904 C>T_QNERTYEVPDQPKENESPHYDDVHE
16:58018586-58018586 G>A	0.0	3466	MELANOMA	-	-	-	-	TEPP	NM_199456,p.G166E|uc002emv.4,p.G166E|ENST00000441824,p.G166E|NM_199046,p.G166E|uc002emw.4,p.G166E|ENST00000290871,p.G166E	retained_intron, protein_coding, processed_transcript	uc002emw.4	nonsynonymous SNV	exon4	c.G497A	p.G166E	ATGQKLRNRYHEGKLAPIAPGINRV	ATGQKLRNRYHEEKLAPIAPGINRV	1.0	7.0	unscreened	-	3466_16:58018586-58018586 G>A_ATGQKLRNRYHEEKLAPIAPGINRV
19:38384452-38384452 G>A	0.0	3466	MELANOMA	-	-	-	-	WDR87	NM_001291088,p.R631W|uc002ohj.2,p.R631W|ENST00000303868,p.R592W|ENST00000447313,p.R631W|uc010efu.2,p.R592W|NM_031951,p.R592W	retained_intron, protein_coding	uc010efu.2	nonsynonymous SNV	exon4	c.C1774T	p.R592W	SLFVTGSADGSVRIWDFHGRLIAIL	SLFVTGSADGSVWIWDFHGRLIAIL	1.0	2.0	unscreened	Snp within 36 nucleotides, 19:38384421-38384421 G>C, residue 23 G>A PR	3466_19:38384452-38384452 G>A_SLFVTGSADGSVWIWDFHGRLIAIL
21:44108035-44108035 C>T	0.0	3466	MELANOMA	-	-	-	-	PDE9A	NM_001001570,p.T50I|uc002zbo.3,p.T50I|ENST00000539837,p.T15I|ENST00000291539,p.T50I|NM_002606,p.T50I|uc002zbx.3,p.T50I|ENST00000380328,p.T50I|uc002zbm.3,p.T50I|NM_001001567,p.T50I|ENST00000335512,p.T50I	retained_intron, protein_coding, processed_transcript	uc002zbx.3	nonsynonymous SNV	exon3	c.C149T	p.T50I	LFCIATGLPRNTTISLLTTDDAMVS	LFCIATGLPRNTIISLLTTDDAMVS	2.0	8.0	unscreened	-	3466_21:44108035-44108035 C>T_LFCIATGLPRNTIISLLTTDDAMVS
16:4903133-4903133 G>A	1.0	3466	MELANOMA	-	-	-	-	UBN1	ENST00000396658,p.R72Q|ENST00000545171,p.R72Q|NM_001079514,p.R72Q|ENST00000262376,p.R72Q|ENST00000590769,p.R72Q|NM_001288656,p.R72Q|uc002cyb.3,p.R72Q|uc010uxw.2,p.R72Q|uc002cyc.3,p.R72Q|ENST00000592120,p.R72Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uxw.2	nonsynonymous SNV	exon2	c.G215A	p.R72Q	PEFFYPELVKNIRGKVKGLQPGDKK	PEFFYPELVKNIQGKVKGLQPGDKK	9.0	1.0	-	-	3466_16:4903133-4903133 G>A_PEFFYPELVKNIQGKVKGLQPGDKK
12:2789594-2789594 C>T	0.0	3466	MELANOMA	-	-	-	-	CACNA1C	uc001qkm.2,p.P1826L|NM_001167625,p.P1826L|ENST00000406454,p.P1837L|ENST00000399634,p.P1837L|uc001qki.1,p.P1573L	retained_intron, protein_coding, processed_transcript	uc001qkm.2	nonsynonymous SNV	exon42	c.C5477T	p.P1826L	GTFPPALGPRRAPPCLHQQLQGSLA	GTFPPALGPRRALPCLHQQLQGSLA	5.0	5.0	unscreened	-	3466_12:2789594-2789594 C>T_GTFPPALGPRRALPCLHQQLQGSLA
3:130095416-130095416 C>T	0.0	3466	MELANOMA	-	-	-	-	COL6A5	ENST00000312481,p.P135L|ENST00000265379,p.P135L|NM_153264,p.P135L|NM_001278298,p.P135L|ENST00000432398,p.P135L|uc010htk.2,p.P135L|uc010htj.2,p.P135L	protein_coding, nonsense_mediated_decay	uc010htk.2	nonsynonymous SNV	exon3	c.C404T	p.P135L	SAPINGRDRKQFPPILVVLASAESE	SAPINGRDRKQFLPILVVLASAESE	1.0	6.0	unscreened	-	3466_3:130095416-130095416 C>T_SAPINGRDRKQFLPILVVLASAESE
9:137779070-137779070 G>A	0.0	3466	MELANOMA	-	-	-	-	FCN2	NM_015837,p.D213N|ENST00000291744,p.D251N|ENST00000350339,p.D213N|uc004cfh.1,p.D213N|uc004cfg.1,p.D251N|NM_004108,p.D251N	protein_coding	uc004cfh.1	nonsynonymous SNV	exon7	c.G637A	p.D213N	NNQSFSTKDQDNDLNTGNCAVMFQG	NNQSFSTKDQDNNLNTGNCAVMFQG	1.0	9.0	unscreened	-	3466_9:137779070-137779070 G>A_NNQSFSTKDQDNNLNTGNCAVMFQG
17:10427132-10427132 C>T	0.0	3466	MELANOMA	-	-	-	-	MYH2	ENST00000397183,p.D1749N|NM_001100112,p.D1749N|uc002gmp.4,p.D1749N|ENST00000245503,p.D1749N|NM_017534,p.D1749N|uc010coi.3,p.D1749N	protein_coding	uc010coi.3	nonsynonymous SNV	exon36	c.G5245A	p.D1749N	ETDISQMQGEMEDILQEARNAEEKA	ETDISQMQGEMENILQEARNAEEKA	4.0	9.0	unscreened	-	3466_17:10427132-10427132 C>T_ETDISQMQGEMENILQEARNAEEKA
7:150389965-150389965 A>C	0.0	3466	MELANOMA	-	-	-	-	GIMAP2	uc003who.3,p.E197D|NM_015660,p.E197D|ENST00000223293,p.E197D	retained_intron, protein_coding	uc003who.3	nonsynonymous SNV	exon3	c.A591C	p.E197D	RAEGSNQDDQVKELMDCIEDLLMEK	RAEGSNQDDQVKDLMDCIEDLLMEK	5.0	1.0	unscreened	-	3466_7:150389965-150389965 A>C_RAEGSNQDDQVKDLMDCIEDLLMEK
22:25264462-25264462 C>T	0.0	3466	MELANOMA	-	-	-	-	SGSM1	uc003abj.2,p.P372S|ENST00000400359,p.P372S|uc003abi.1,p.P347S|NM_133454,p.P372S|uc010guu.1,p.P372S|NM_001098497,p.P372S|uc003abh.2,p.P372S|NM_001098498,p.P372S|NM_001039948,p.P372S|uc003abg.2,p.P372S|ENST00000400358,p.P372S	retained_intron, protein_coding, processed_transcript	uc010guu.1	nonsynonymous SNV	exon11	c.C1114T	p.P372S	LQFLSCLENGLLPHGQLDPPLWSQR	LQFLSCLENGLLSHGQLDPPLWSQR	1.0	2.0	unscreened	-	3466_22:25264462-25264462 C>T_LQFLSCLENGLLSHGQLDPPLWSQR
3:186460078-186460078 G>A	0.0	3466	MELANOMA	-	-	-	-	KNG1	NM_001102416,p.M631I|uc011bsa.2,p.M631I|ENST00000265023,p.M631I	protein_coding	uc011bsa.2	nonsynonymous SNV	exon10	c.G1893A	p.M631I	WKSVSEINPTTQMKESYYFDLTDGL	WKSVSEINPTTQIKESYYFDLTDGL	1.0	4.0	unscreened	-	3466_3:186460078-186460078 G>A_WKSVSEINPTTQIKESYYFDLTDGL
16:4787940-4787940 T>G	1.0	3466	MELANOMA	-	-	-	-	C16orf71	ENST00000586724,p.L90R|ENST00000299320,p.L90R|NM_139170,p.L90R|uc002cxn.3,p.L90R	retained_intron, protein_coding	uc002cxn.3	nonsynonymous SNV	exon3	c.T269G	p.L90R	KSRAWVAAAEESLPEPVLVPAELAT	KSRAWVAAAEESRPEPVLVPAELAT	3.0	2.0	unscreened	-	3466_16:4787940-4787940 T>G_KSRAWVAAAEESRPEPVLVPAELAT
16:1537320-1537320 C>T	0.0	3466	MELANOMA	-	-	-	-	PTX4	uc010uvf.2,p.E260K|ENST00000293922,p.E260K|NM_001013658,p.E260K|ENST00000447419,p.E265K	protein_coding	uc010uvf.2	nonsynonymous SNV	exon2	c.G778A	p.E260K	PRQQAWSPQVPGEICGVGPTLVFPN	PRQQAWSPQVPGKICGVGPTLVFPN	1.0	1.0	unscreened	-	3466_16:1537320-1537320 C>T_PRQQAWSPQVPGKICGVGPTLVFPN
9:121929907-121929907 C>T	0.0	3466	MELANOMA	-	-	-	-	BRINP1	uc004bkc.2,p.E581K|NM_014618,p.E581K|ENST00000265922,p.E581K	protein_coding, processed_transcript	uc004bkc.2	nonsynonymous SNV	exon8	c.G1741A	p.E581K	GSHSEGWNMPFGEFGYPRWEKIRLQ	GSHSEGWNMPFGKFGYPRWEKIRLQ	1.0	9.0	unscreened	-	3466_9:121929907-121929907 C>T_GSHSEGWNMPFGKFGYPRWEKIRLQ
19:9075609-9075609 G>T	0.0	3466	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.P3946H|uc002mkp.3,p.P3946H|NM_024690,p.P3946H	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C11837A	p.P3946H	PSESTTDKEAIHPSTNTVETTGWVT	PSESTTDKEAIHHSTNTVETTGWVT	1.0	2.0	unscreened	-	3466_19:9075609-9075609 G>T_PSESTTDKEAIHHSTNTVETTGWVT
X:111698492-111698492 A>T	0.0	3466	MELANOMA	-	-	-	-	ZCCHC16	ENST00000340433,p.N179I|uc022cct.1,p.N179I|uc004epo.1,p.N179I|NM_001004308,p.N179I	protein_coding	uc022cct.1	nonsynonymous SNV	exon1	c.A536T	p.N179I	HLLAQNLICNETNQSGQFEKALANP	HLLAQNLICNETIQSGQFEKALANP	1.0	9.0	unscreened	Snp within 36 nucleotides, X:111698524-111698524 A>T, residue 24 D>N PR	3466_X:111698492-111698492 A>T_HLLAQNLICNETIQSGQFEKALANP
2:222301810-222301810 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1692051,COSM1692052;OCCURENCE=1(skin)	-	EPHA4	ENST00000409938,p.E703K|uc002vmq.3,p.E703K|ENST00000281821,p.E703K|NM_004438,p.E703K|uc002vmr.2,p.E703K|uc010zlm.1,p.E644K|ENST00000409854,p.E703K|ENST00000392071,p.E652K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zlm.1	nonsynonymous SNV	exon11	c.G1930A	p.E644K	KCKPVMIITEYMENGSLDAFLRKND	KCKPVMIITEYMKNGSLDAFLRKND	5.0	2.0	unscreened	-	3466_2:222301810-222301810 C>T_KCKPVMIITEYMKNGSLDAFLRKND
3:130120607-130120607 G>A	0.0	3466	MELANOMA	-	-	-	-	COL6A5	ENST00000432398,p.G1379E|ENST00000265379,p.G1379E|uc010htj.2,p.G1379E|uc010htk.2,p.G1379E|ENST00000312481,p.G1379E|NM_001278298,p.G1379E|NM_153264,p.G1379E	protein_coding, nonsense_mediated_decay	uc010htk.2	nonsynonymous SNV	exon12	c.G4136A	p.G1379E	MRELGKKLSQYLGNIAERTCCCTFC	MRELGKKLSQYLENIAERTCCCTFC	1.0	5.0	unscreened	-	3466_3:130120607-130120607 G>A_MRELGKKLSQYLENIAERTCCCTFC
2:84885425-84885425 G>A	0.0	3466	MELANOMA	-	-	-	-	DNAH6	uc010fgb.3,p.E1923K|ENST00000398278,p.E1923K|NM_001370,p.E1923K|ENST00000389394,p.E1923K|ENST00000237449,p.E1923K	retained_intron, protein_coding, processed_transcript	uc010fgb.3	nonsynonymous SNV	exon36	c.G5767A	p.E1923K	TWMKGISKKLTEETQEYILNLFQRY	TWMKGISKKLTEKTQEYILNLFQRY	1.0	3.0	unscreened	-	3466_2:84885425-84885425 G>A_TWMKGISKKLTEKTQEYILNLFQRY
10:125528182-125528182 C>T	0.0	3466	MELANOMA	-	-	-	-	CPXM2	NM_198148,p.E387K|uc001lhk.1,p.E387K|ENST00000241305,p.E387K	protein_coding, processed_transcript	uc001lhk.1	nonsynonymous SNV	exon9	c.G1159A	p.E387K	IAGAHGNEVLGRELLLLLVQFVCQE	IAGAHGNEVLGRKLLLLLVQFVCQE	2.0	4.0	unscreened	-	3466_10:125528182-125528182 C>T_IAGAHGNEVLGRKLLLLLVQFVCQE
6:117243264-117243264 G>A	0.0	3466	MELANOMA	-	-	-	-	RFX6	NM_173560,p.E463K|uc003pxm.3,p.E463K|ENST00000332958,p.E463K	retained_intron, protein_coding, processed_transcript	uc003pxm.3	nonsynonymous SNV	exon13	c.G1387A	p.E463K	ELKDLLKKNATVEAFIEWLDTVVEQ	ELKDLLKKNATVKAFIEWLDTVVEQ	1.0	9.0	unscreened	-	3466_6:117243264-117243264 G>A_ELKDLLKKNATVKAFIEWLDTVVEQ
5:140740588-140740588 G>A	1.0	3466	MELANOMA	-	-	-	-	PCDHGB2	uc003ljs.2,p.E296K|NM_018923,p.E296K|ENST00000522605,p.E296K|NM_032096,p.E296K|uc011dar.2,p.E296K	protein_coding	uc011dar.2	nonsynonymous SNV	exon1	c.G886A	p.E296K	VDEQVKHFFNLNEKTGEITTKDDLD	VDEQVKHFFNLNKKTGEITTKDDLD	8.0	9.0	unscreened	-	3466_5:140740588-140740588 G>A_VDEQVKHFFNLNKKTGEITTKDDLD
2:125284901-125284901 C>T	0.0	3466	MELANOMA	-	-	-	-	CNTNAP5	ENST00000431078,p.P505L|NM_130773,p.P505L|uc002tno.3,p.P505L|uc010flu.3,p.P506L	retained_intron, protein_coding, processed_transcript	uc010flu.3	nonsynonymous SNV	exon10	c.C1517T	p.P506L	CPDNLTDSQCLNPIKAFQGCMRLIF	CPDNLTDSQCLNLIKAFQGCMRLIF	1.0	7.0	unscreened	-	3466_2:125284901-125284901 C>T_CPDNLTDSQCLNLIKAFQGCMRLIF
19:53770761-53770761 T>C	0.0	3466	MELANOMA	-	-	-	-	VN1R4	ENST00000311170,p.N53S|uc010ydu.2,p.N53S|NM_173857,p.N53S	protein_coding	uc010ydu.2	nonsynonymous SNV	exon1	c.A158G	p.N53S	STDLIVKHLIVANFLALRCKGVPQT	STDLIVKHLIVASFLALRCKGVPQT	1.0	8.0	unscreened	-	3466_19:53770761-53770761 T>C_STDLIVKHLIVASFLALRCKGVPQT
7:12644139-12644139 G>A	0.0	3466	MELANOMA	-	-	-	-	SCIN	ENST00000518849,p.E14K|ENST00000523729,p.E14K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000523729	nonsynonymous SNV	exon3	c.G40A	p.E14K	ASLMSAFTLVQQEIYQWCGSSCNKY	ASLMSAFTLVQQKIYQWCGSSCNKY	5.0	1.0	unscreened	-	3466_7:12644139-12644139 G>A_ASLMSAFTLVQQKIYQWCGSSCNKY
7:123302473-123302473 A>G	0.0	3466	MELANOMA	-	-	-	-	LMOD2	NM_207163,p.N278S|uc003vky.2,p.N278S|ENST00000458573,p.N278S	protein_coding	uc003vky.2	nonsynonymous SNV	exon2	c.A833G	p.N278S	VNEHITNVNVESNFITGKGILAIMR	VNEHITNVNVESSFITGKGILAIMR	3.0	9.0	unscreened	-	3466_7:123302473-123302473 A>G_VNEHITNVNVESSFITGKGILAIMR
5:139251379-139251379 C>T	0.0	3466	MELANOMA	-	-	-	-	NRG2	ENST00000361474,p.E347K|NM_004883,p.E347K|NM_013983,p.E347K|uc003lex.2,p.E347K|ENST00000394770,p.E347K|ENST00000289409,p.E347K|ENST00000378238,p.E347K|NM_013982,p.E347K|uc003lev.2,p.E347K|ENST00000545385,p.E347K|ENST00000358522,p.E347K|NM_013981,p.E347K|ENST00000340391,p.E144K|ENST00000289422,p.E347K|uc003ley.2,p.E347K|uc003lew.2,p.E347K	protein_coding, processed_transcript	uc003ley.2	nonsynonymous SNV	exon4	c.G1039A	p.E347K	LSSWSGHARKCNETAKSYCVNGGVC	LSSWSGHARKCNKTAKSYCVNGGVC	2.0	9.0	unscreened	-	3466_5:139251379-139251379 C>T_LSSWSGHARKCNKTAKSYCVNGGVC
11:113934591-113934591 C>T	0.0	3466	MELANOMA	-	-	ID=COSM686291;OCCURENCE=1(lung)	1	ZBTB16	uc001pop.3,p.S190L|ENST00000335953,p.S190L|NM_006006,p.S190L|uc001poo.1,p.S190L|ENST00000392996,p.S190L|NM_001018011,p.S190L|uc001poq.3,p.S190L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001poq.3	nonsynonymous SNV	exon2	c.C569T	p.S190L	GPMVDQSPSVSTSFGLSAMSPTKAA	GPMVDQSPSVSTLFGLSAMSPTKAA	1.0	6.0	unscreened	-	3466_11:113934591-113934591 C>T_GPMVDQSPSVSTLFGLSAMSPTKAA
3:185252581-185252606 ACCATGGCTACTTTTCTGGTCTTACT>-	0.0	3466	MELANOMA	-	-	-	-	LIPH	uc010hyh.3,p.S122fs|ENST00000424591,p.S122fs|uc003fpm.3,p.S122fs|ENST00000296252,p.S122fs|NM_139248,p.S122fs	protein_coding, nonsense_mediated_decay	uc010hyh.3	frameshift deletion	exon2	c.364_389del	p.S122fs	RGATTLIYTHASSKTRKVAMVLKEF	RGATTLIYTHASLEGIY	1.0	3.0	unscreened	-	3466_3:185252581-185252606 ACCATGGCTACTTTTCTGGTCTTACT>-_RGATTLIYTHASLEGIY
8:134042144-134042144 G>A	0.0	3466	MELANOMA	-	-	-	-	TG	ENST00000220616,p.G2372E|uc011ljb.2,p.G741E|ENST00000377869,p.G2315E|uc011ljc.2,p.G505E|uc003ytw.3,p.G2372E|uc010mdw.3,p.G1131E|ENST00000542445,p.G742E|ENST00000519543,p.G505E|NM_003235,p.G2372E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ljc.2	nonsynonymous SNV	exon12	c.G1514A	p.G505E	VAALTWVQTHIRGFGGDPRRVSLAA	VAALTWVQTHIREFGGDPRRVSLAA	1.0	9.0	unscreened	-	3466_8:134042144-134042144 G>A_VAALTWVQTHIREFGGDPRRVSLAA
12:81762957-81762957 C>T	0.0	3466	MELANOMA	-	-	-	-	PPFIA2	ENST00000553058,p.G9E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000553058	nonsynonymous SNV	exon2	c.G26A	p.G9E	MFAAEERHGNIEERMRHLEGQ	MFAAEERHENIEERMRHLEGQ	3.0	9.0	unscreened	-	3466_12:81762957-81762957 C>T_MFAAEERHENIEERMRHLEGQ
4:144621129-144621129 G>A	0.0	3466	MELANOMA	-	-	-	-	FREM3	uc021xsj.1,p.L234F|ENST00000329798,p.L234F|NM_001168235,p.L234F	protein_coding, processed_transcript	uc021xsj.1	nonsynonymous SNV	exon1	c.C700T	p.L234F	KYGRLVDAVGAPLPRGKGVDCEAFL	KYGRLVDAVGAPFPRGKGVDCEAFL	1.0	5.0	unscreened	-	3466_4:144621129-144621129 G>A_KYGRLVDAVGAPFPRGKGVDCEAFL
19:19674337-19674337 C>T	1.0	3466	MELANOMA	-	-	-	-	PBX4	NM_025245,p.G338E|uc002nmy.3,p.G338E|ENST00000251203,p.G338E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nmy.3	nonsynonymous SNV	exon7	c.G1013A	p.G338E	LRTLASLQPPPGGGCLQSQAQGSWQ	LRTLASLQPPPGEGCLQSQAQGSWQ	5.0	5.0	unscreened	-	3466_19:19674337-19674337 C>T_LRTLASLQPPPGEGCLQSQAQGSWQ
12:81762957-81762957 C>T	0.0	3466	MELANOMA	-	-	-	-	PPFIA2	uc031qiw.1,p.G428E|ENST00000549396,p.G428E|NM_001220476,p.G428E|NM_001220478,p.G329E|uc031qiq.1,p.G410E|uc031qil.1,p.G329E|NM_001220475,p.G428E|ENST00000333447,p.G410E|ENST00000407050,p.G354E|uc031qix.1,p.G428E|uc031qiu.1,p.G354E|NM_001220477,p.G354E|ENST00000549325,p.G410E|uc031qiv.1,p.G329E|uc031qim.1,p.G428E|uc031qik.1,p.G354E|ENST00000443686,p.G329E|uc031qiy.1,p.G428E|NM_001220473,p.G428E|NM_001282536,p.G275E|ENST00000552948,p.G428E|uc031qio.1,p.G428E|ENST00000548586,p.G428E|uc031qis.1,p.G428E|NM_003625,p.G428E|uc031qin.1,p.G410E|uc031qir.1,p.G428E|uc031qip.1,p.G428E|NM_001220474,p.G410E|ENST00000550584,p.G428E|ENST00000550359,p.G275E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qiy.1	nonsynonymous SNV	exon10	c.G1283A	p.G428E	RIAALTKAEERHGNIEERMRHLEGQ	RIAALTKAEERHENIEERMRHLEGQ	3.0	9.0	unscreened	-	3466_12:81762957-81762957 C>T_RIAALTKAEERHENIEERMRHLEGQ
9:125154674-125154674 G>A	0.0	3466	MELANOMA	-	-	-	-	PTGS1	ENST00000373698,p.G442S|ENST00000540753,p.G489S|NM_080591,p.G514S|ENST00000223423,p.G514S|uc004bmg.2,p.G551S|uc010mwb.2,p.G405S|uc011lyt.2,p.G442S|uc031tez.1,p.G405S|uc011lys.2,p.G489S|NM_001271164,p.G503S|NM_000962,p.G551S|NM_001271368,p.G489S|ENST00000362012,p.G551S|uc031tey.1,p.G503S|uc004bmh.2,p.G442S|uc004bmf.2,p.G514S|NM_001271166,p.G405S|NM_001271165,p.G442S|NM_001271367,p.G405S	protein_coding	uc031tez.1	nonsynonymous SNV	exon11	c.G1213A	p.G405S	CSPEYWKPSTFGGEVGFNIVKTATL	CSPEYWKPSTFGSEVGFNIVKTATL	5.0	3.0	unscreened	-	3466_9:125154674-125154674 G>A_CSPEYWKPSTFGSEVGFNIVKTATL
1:166904549-166904549 C>T	0.0	3466	MELANOMA	-	-	-	-	ILDR2	NM_199351,p.G290E|ENST00000469934,p.G290E|ENST00000271417,p.G290E|ENST00000529071,p.G271E|uc001gdx.2,p.G290E	protein_coding	uc001gdx.2	nonsynonymous SNV	exon6	c.G869A	p.G290E	HPPPLAPSDSTGGSHSVRKGYRIQA	HPPPLAPSDSTGESHSVRKGYRIQA	1.0	7.0	unscreened	-	3466_1:166904549-166904549 C>T_HPPPLAPSDSTGESHSVRKGYRIQA
2:120388370-120388370 C>T	0.0	3466	MELANOMA	-	-	-	-	CFAP221	uc031rou.1,p.P623S|uc010yyq.3,p.P467S|ENST00000602047,p.P337S|uc002tmb.4,p.P338S|NM_001271049,p.P623S|ENST00000413369,p.P623S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rou.1	nonsynonymous SNV	exon19	c.C1867T	p.P623S	GAEDEVTTITALPKQDSTTQLSGKT	GAEDEVTTITALSKQDSTTQLSGKT	1.0	2.0	unscreened	-	3466_2:120388370-120388370 C>T_GAEDEVTTITALSKQDSTTQLSGKT
4:138452158-138452158 C>T	0.0	3466	MELANOMA	-	-	-	-	PCDH18	ENST00000507846,p.G142E|NM_001300828,p.G362E|uc003ihg.4,p.G142E|ENST00000344876,p.G362E|ENST00000412923,p.G362E|uc003ihf.4,p.G355E|NM_019035,p.G362E|uc003ihe.4,p.G362E	protein_coding	uc003ihg.4	nonsynonymous SNV	exon2	c.G425A	p.G142E	NKPEININLMSPGKEEISYIFEGDP	NKPEININLMSPEKEEISYIFEGDP	5.0	5.0	unscreened	-	3466_4:138452158-138452158 C>T_NKPEININLMSPEKEEISYIFEGDP
4:74279174-74279174 C>T	0.0	3466	MELANOMA	-	-	ID=COSM256286;OCCURENCE=3(large_intestine)	-	ALB	ENST00000295897,p.S294L|uc011cbf.2,p.S184L|ENST00000509063,p.S294L|ENST00000401494,p.S179L|uc003hgw.4,p.S102L|NM_000477,p.S294L|ENST00000415165,p.S102L|uc003hgs.4,p.S294L|ENST00000503124,p.S144L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cbf.2	nonsynonymous SNV	exon7	c.C551T	p.S184L	ADLAKYICENQDSISSKLKECCEKP	ADLAKYICENQDLISSKLKECCEKP	1.0	4.0	unscreened	-	3466_4:74279174-74279174 C>T_ADLAKYICENQDLISSKLKECCEKP
7:53103777-53103777 C>T	0.0	3466	MELANOMA	-	-	-	-	POM121L12	NM_182595,p.T138I|uc003tpz.3,p.T138I|ENST00000408890,p.T138I	protein_coding	uc003tpz.3	nonsynonymous SNV	exon1	c.C413T	p.T138I	RAWNPGRTWSPVTIGIAPSERQESP	RAWNPGRTWSPVIIGIAPSERQESP	1.0	9.0	unscreened	Snp within 36 nucleotides, 7:53103794-53103794 C>T, residue 19 P>S PR	3466_7:53103777-53103777 C>T_RAWNPGRTWSPVIIGIAPSERQESP
4:75937920-75937920 C>T	0.0	3466	MELANOMA	-	-	-	-	PARM1	ENST00000307428,p.S110L|uc003hih.2,p.S110L|NM_015393,p.S110L	protein_coding	uc003hih.2	nonsynonymous SNV	exon2	c.C329T	p.S110L	EGTNTDPSPSGFSSTSGGVHLTTTL	EGTNTDPSPSGFLSTSGGVHLTTTL	4.0	3.0	unscreened	-	3466_4:75937920-75937920 C>T_EGTNTDPSPSGFLSTSGGVHLTTTL
11:62359062-62359062 G>A	0.0	3466	MELANOMA	-	-	-	-	TUT1	uc001nto.2,p.P4S|NM_022830,p.P4S|ENST00000308436,p.P4S	retained_intron, protein_coding, nonsense_mediated_decay	uc001nto.2	nonsynonymous SNV	exon1	c.C10T	p.P4S	MSLPIGSAEVASERVE	MSLSIGSAEVASERVE	4.0	6.0	unscreened	-	3466_11:62359062-62359062 G>A_MSLSIGSAEVASERVE
X:151869950-151869950 G>A	0.0	3466	MELANOMA	-	-	-	-	MAGEA6	uc022chf.1,p.D214N|NM_005363,p.D214N|ENST00000457643,p.D214N|uc004ffq.1,p.D214N|ENST00000329342,p.D214N|NM_175868,p.D214N|uc004ffr.1,p.D214N	protein_coding	uc022chf.1	nonsynonymous SNV	exon1	c.G640A	p.D214N	LIIILAIIAKEGDCAPEEKIWEELS	LIIILAIIAKEGNCAPEEKIWEELS	1.0	9.0	unscreened	-	3466_X:151869950-151869950 G>A_LIIILAIIAKEGNCAPEEKIWEELS
22:18609385-18609385 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1231388;OCCURENCE=1(large_intestine)	-	TUBA8	ENST00000316027,p.R148C|ENST00000416740,p.R238C|uc002znv.2,p.R214C|NM_018943,p.R214C|uc021wkt.1,p.R148C|ENST00000330423,p.R214C|uc002znw.1,p.R238C|NM_001193414,p.R148C	protein_coding	uc021wkt.1	nonsynonymous SNV	exon4	c.C442T	p.R148C	FMVDNEAIYDICRRNLDIERPTYTN	FMVDNEAIYDICCRNLDIERPTYTN	3.0	2.0	unscreened	-	3466_22:18609385-18609385 C>T_FMVDNEAIYDICCRNLDIERPTYTN
12:79679678-79679678 G>A	1.0	3466	MELANOMA	-	-	-	-	SYT1	NM_001135805,p.G93E|NM_001291901,p.G93E|uc001sys.3,p.G93E|ENST00000552624,p.G93E|uc001syu.3,p.G93E|ENST00000552744,p.G93E|ENST00000261205,p.G93E|ENST00000393240,p.G93E|uc001syv.3,p.G93E|ENST00000446242,p.G93E|ENST00000457153,p.G93E|NM_001135806,p.G93E|uc001syt.3,p.G93E|NM_005639,p.G93E	protein_coding, processed_transcript	uc001syv.3	nonsynonymous SNV	exon4	c.G278A	p.G93E	KKCLFKKKNKKKGKEKGGKNAINMK	KKCLFKKKNKKKEKEKGGKNAINMK	5.0	9.0	unscreened	-	3466_12:79679678-79679678 G>A_KKCLFKKKNKKKEKEKGGKNAINMK
16:24366154-24366154 G>A	0.0	3466	MELANOMA	-	-	ID=COSM557398;OCCURENCE=1(lung)	-	CACNG3	uc002dmf.3,p.R99Q|NM_006539,p.R99Q|ENST00000005284,p.R99Q	protein_coding	uc002dmf.3	nonsynonymous SNV	exon3	c.G296A	p.R99Q	ADYEQDTAEYLLRAVRASSVFPILS	ADYEQDTAEYLLQAVRASSVFPILS	1.0	7.0	unscreened	-	3466_16:24366154-24366154 G>A_ADYEQDTAEYLLQAVRASSVFPILS
2:158991365-158991365 C>T	0.0	3466	MELANOMA	-	-	-	-	UPP2	uc002tzo.3,p.S363F|NM_001135098,p.S363F|ENST00000409859,p.S363F|uc002tzp.3,p.S306F|ENST00000005756,p.S306F|ENST00000605860,p.S363F|NM_173355,p.S306F	protein_coding, processed_transcript	uc002tzp.3	nonsynonymous SNV	exon7	c.C917T	p.S306F	LVEYQQRPQLLISNFIRRRLGLCD	LVEYQQRPQLLIFNFIRRRLGLCD	1.0	8.0	unscreened	-	3466_2:158991365-158991365 C>T_LVEYQQRPQLLIFNFIRRRLGLCD
7:95157400-95157400 C>T	0.0	3466	MELANOMA	-	-	-	-	ASB4	NM_016116,p.P255S|ENST00000325885,p.P255S|NM_145872,p.P255S|ENST00000428113,p.P255S|uc011kij.2,p.P255S|uc003unx.3,p.P255S	protein_coding, processed_transcript	uc011kij.2	nonsynonymous SNV	exon3	c.C763T	p.P255S	AEVNARDDDFKSPLHKAAWNCDHVL	AEVNARDDDFKSSLHKAAWNCDHVL	1.0	1.0	unscreened	-	3466_7:95157400-95157400 C>T_AEVNARDDDFKSSLHKAAWNCDHVL
11:56128522-56128522 C>T	0.0	3466	MELANOMA	-	-	-	-	OR8J1	ENST00000303039,p.S267L|NM_001005205,p.S267L|uc010rjh.2,p.S267L	protein_coding	uc010rjh.2	nonsynonymous SNV	exon1	c.C800T	p.S267L	LLFMYVQPRSNHSLDTDDKMASVFY	LLFMYVQPRSNHLLDTDDKMASVFY	1.0	4.0	unscreened	-	3466_11:56128522-56128522 C>T_LLFMYVQPRSNHLLDTDDKMASVFY
1:181686405-181686405 C>T	1.0	3466	MELANOMA	-	-	-	-	CACNA1E	ENST00000360108,p.H498Y|uc001gow.3,p.H498Y|NM_000721,p.H498Y|ENST00000367570,p.H498Y|NM_001205294,p.H498Y|ENST00000358338,p.H449Y|ENST00000367573,p.H498Y|NM_001205293,p.H498Y|uc009wxt.3,p.H498Y|ENST00000526775,p.H498Y|ENST00000357570,p.H449Y|ENST00000367567,p.H105Y|uc009wxs.3,p.H498Y	retained_intron, protein_coding	uc009wxt.3	nonsynonymous SNV	exon11	c.C1492T	p.H498Y	VALNTACVAIVHHNQPQWLTHLLYY	VALNTACVAIVHYNQPQWLTHLLYY	1.0	7.0	unscreened	-	3466_1:181686405-181686405 C>T_VALNTACVAIVHYNQPQWLTHLLYY
20:42315517-42315517 G>A	1.0	3466	MELANOMA	-	-	-	-	MYBL2	ENST00000217026,p.G102D|uc002xlb.1,p.G102D|ENST00000396863,p.G78D|uc010zwj.1,p.G78D|NM_001278610,p.G78D|NM_002466,p.G102D	protein_coding	uc010zwj.1	nonsynonymous SNV	exon4	c.G233A	p.G78D	EDQKVIELVKKYGTKQWTLIAKHLK	EDQKVIELVKKYDTKQWTLIAKHLK	4.0	5.0	-	-	3466_20:42315517-42315517 G>A_EDQKVIELVKKYDTKQWTLIAKHLK
2:133542520-133542520 C>T	0.0	3466	MELANOMA	-	-	-	-	NCKAP5	ENST00000317721,p.G622R|uc002ttp.3,p.G622R|ENST00000409261,p.G622R|NM_207363,p.G622R	protein_coding, processed_transcript	uc002ttp.3	nonsynonymous SNV	exon14	c.G1864A	p.G622R	TDKSVENLDVLVGFGKSLCGSPEEE	TDKSVENLDVLVRFGKSLCGSPEEE	2.0	6.0	unscreened	-	3466_2:133542520-133542520 C>T_TDKSVENLDVLVRFGKSLCGSPEEE
6:45882139-45882139 T>G	0.0	3466	MELANOMA	-	-	-	-	CLIC5	uc031sot.1,p.E5D	protein_coding, processed_transcript	uc031sot.1	nonsynonymous SNV	exon2	c.A15C	p.E5D	MPALERGLTKALKKLDD	MPALDRGLTKALKKLDD	2.0	1.0	unscreened	-	3466_6:45882139-45882139 T>G_MPALDRGLTKALKKLDD
12:21967622-21967622 G>A	0.0	3466	MELANOMA	-	-	-	-	ABCC9	uc001rfi.1,p.S1353L|ENST00000345162,p.S1317L|ENST00000261200,p.S1353L|NM_020297,p.S1353L|ENST00000544039,p.S980L|uc001rfh.3,p.S1353L|ENST00000261201,p.S1353L|NM_005691,p.S1353L	protein_coding	uc001rfi.1	nonsynonymous SNV	exon33	c.C4058T	p.S1353L	KVGICGRTGSGKSSLSLAFFRMVDI	KVGICGRTGSGKLSLSLAFFRMVDI	5.0	5.0	unscreened	-	3466_12:21967622-21967622 G>A_KVGICGRTGSGKLSLSLAFFRMVDI
3:36779061-36779061 C>T	0.0	3466	MELANOMA	-	-	-	-	DCLK3	ENST00000416516,p.D364N|NM_033403,p.D364N|uc003cgi.2,p.D364N	protein_coding, processed_transcript	uc003cgi.2	nonsynonymous SNV	exon2	c.G1090A	p.D364N	VEKHYETGRVIGDGNFAVVKECRHR	VEKHYETGRVIGNGNFAVVKECRHR	2.0	4.0	unscreened	-	3466_3:36779061-36779061 C>T_VEKHYETGRVIGNGNFAVVKECRHR
17:37947768-37947768 T>A	0.0	3466	MELANOMA	-	-	-	-	IKZF3	ENST00000350532,p.I165F|ENST00000535189,p.I131F|NM_001257408,p.I131F|uc002hsy.4,p.I165F|NM_183232,p.I165F|ENST00000346243,p.I165F|uc002hta.4,p.I165F|ENST00000293068,p.I165F|NM_001257409,p.I131F|NM_183230,p.I165F|uc010cwh.4,p.I78F|uc002hsv.4,p.I131F|NM_183229,p.I165F|ENST00000439167,p.I131F|NM_001257410,p.I78F|uc002hsu.4,p.I165F|uc002hsw.4,p.I165F|NM_012481,p.I165F|ENST00000377958,p.I78F|ENST00000351680,p.I165F|ENST00000346872,p.I165F|uc002htd.4,p.I131F	protein_coding, nonsense_mediated_decay	uc010cwh.4	nonsynonymous SNV	exon4	c.A232T	p.I78F	ASFTQKGNLLRHIKLHTGEKPFKCH	ASFTQKGNLLRHFKLHTGEKPFKCH	5.0	9.0	unscreened	-	3466_17:37947768-37947768 T>A_ASFTQKGNLLRHFKLHTGEKPFKCH
2:186655788-186655788 G>A	0.0	3466	MELANOMA	-	-	-	-	FSIP2	ENST00000343098,p.E1398K|NM_173651,p.E1398K|ENST00000424728,p.E1309K|uc002upl.3,p.E1398K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon16	c.G4192A	p.E1398K	KIVNIVLCAIQNELELHKENLNLRE	KIVNIVLCAIQNKLELHKENLNLRE	1.0	7.0	unscreened	-	3466_2:186655788-186655788 G>A_KIVNIVLCAIQNKLELHKENLNLRE
7:100678470-100678470 C>T	0.0	3466	MELANOMA	-	-	-	-	MUC17	ENST00000379439,p.S1258F|ENST00000306151,p.S1258F|uc003uxp.1,p.S1258F|NM_001040105,p.S1258F	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.C3773T	p.S1258F	TSTPVTTSAETSSSPTTAEGTSLPT	TSTPVTTSAETSFSPTTAEGTSLPT	1.0	9.0	unscreened	-	3466_7:100678470-100678470 C>T_TSTPVTTSAETSFSPTTAEGTSLPT
10:134942414-134942414 C>T	0.0	3466	MELANOMA	-	-	-	-	GPR123	NM_001291085,p.P264L|NM_001083909,p.P361L|ENST00000607359,p.P1080L|ENST00000392606,p.P264L|uc001llw.3,p.P1080L|uc001llx.4,p.P361L|ENST00000392607,p.P361L	protein_coding	uc001llx.4	nonsynonymous SNV	exon7	c.C1082T	p.P361L	LGQPRGFAHPPGPCKMTNLQAAQGH	LGQPRGFAHPPGLCKMTNLQAAQGH	1.0	4.0	unscreened	-	3466_10:134942414-134942414 C>T_LGQPRGFAHPPGLCKMTNLQAAQGH
19:15164302-15164302 G>A	0.0	3466	MELANOMA	-	-	-	-	CASP14	uc010dzv.2,p.D13N|NM_012114,p.D13N|ENST00000427043,p.D13N|ENST00000221740,p.D13N	retained_intron, protein_coding	uc010dzv.2	nonsynonymous SNV	exon3	c.G37A	p.D13N	MSNPRSLEEEKYDMSGARLALILCV	MSNPRSLEEEKYNMSGARLALILCV	1.0	2.0	unscreened	-	3466_19:15164302-15164302 G>A_MSNPRSLEEEKYNMSGARLALILCV
10:96443679-96443679 C>T	0.0	3466	MELANOMA	-	-	-	-	CYP2C18	ENST00000339022,p.P35S|uc001kjw.4,p.P35S|ENST00000285979,p.P35S|uc001kjv.4,p.P35S|NM_001128925,p.P35S|NM_000772,p.P35S	protein_coding, processed_transcript	uc001kjw.4	nonsynonymous SNV	exon1	c.C103T	p.P35S	SSGRGRLPSGPTPLPIIGNILQLDV	SSGRGRLPSGPTSLPIIGNILQLDV	1.0	7.0	unscreened	-	3466_10:96443679-96443679 C>T_SSGRGRLPSGPTSLPIIGNILQLDV
3:111794183-111794183 C>T	0.0	3466	MELANOMA	-	-	-	-	TMPRSS7	uc010hqb.2,p.S474F|ENST00000452346,p.S600F|uc011bhr.1,p.S329F|NM_001042575,p.S474F|ENST00000419127,p.S474F	protein_coding, nonsense_mediated_decay	uc011bhr.1	nonsynonymous SNV	exon14	c.C986T	p.S329F	GSDEEGCTCSRSSSALHRIIGGTDT	GSDEEGCTCSRSFSALHRIIGGTDT	1.0	7.0	unscreened	-	3466_3:111794183-111794183 C>T_GSDEEGCTCSRSFSALHRIIGGTDT
10:49997929-49997929 C>T	0.0	3466	MELANOMA	-	-	-	-	WDFY4	NM_020945,p.S1322L|ENST00000325239,p.S1322L|uc001jha.4,p.S1322L	protein_coding, processed_transcript	uc001jha.4	nonsynonymous SNV	exon22	c.C3965T	p.S1322L	VDSRLIAKEMNISSRDNAMPVFLLR	VDSRLIAKEMNILSRDNAMPVFLLR	4.0	5.0	unscreened	-	3466_10:49997929-49997929 C>T_VDSRLIAKEMNILSRDNAMPVFLLR
8:2027655-2027655 G>A	0.0	3466	MELANOMA	-	-	-	-	MYOM2	ENST00000262113,p.G493R|uc003wpx.4,p.G493R|NM_003970,p.G493R	retained_intron, protein_coding, processed_transcript	uc003wpx.4	nonsynonymous SNV	exon13	c.G1477A	p.G493R	LDLRRLQAVHLEGEKEIAIYQDDLE	LDLRRLQAVHLEREKEIAIYQDDLE	3.0	8.0	unscreened	-	3466_8:2027655-2027655 G>A_LDLRRLQAVHLEREKEIAIYQDDLE
10:68686876-68686876 C>T	0.0	3466	MELANOMA	-	-	-	-	LRRTM3	NM_178011,p.L68F|uc001jmz.1,p.L68F|uc001jmy.3,p.L68F|ENST00000361320,p.L68F	protein_coding, processed_transcript	uc001jmz.1	nonsynonymous SNV	exon2	c.C202T	p.L68F	PSSISAGCLGLSLRYNSLQKLKYNQ	PSSISAGCLGLSFRYNSLQKLKYNQ	1.0	5.0	unscreened	-	3466_10:68686876-68686876 C>T_PSSISAGCLGLSFRYNSLQKLKYNQ
5:42783576-42783576 G>A	0.0	3466	MELANOMA	-	-	-	-	CCDC152	uc003jmx.3,p.E110K|NM_001134848,p.E110K|ENST00000361970,p.E110K	protein_coding	uc003jmx.3	nonsynonymous SNV	exon6	c.G328A	p.E110K	DLIKEKLKSHEQEYKNNIAKLVSEM	DLIKEKLKSHEQKYKNNIAKLVSEM	2.0	1.0	unscreened	-	3466_5:42783576-42783576 G>A_DLIKEKLKSHEQKYKNNIAKLVSEM
6:46135702-46135702 G>A	0.0	3466	MELANOMA	0.0005	-	-	-	ENPP5	NM_001290072,p.R100W|ENST00000371383,p.R100W|uc010jzc.1,p.R100W|uc003oya.1,p.R100W|NM_021572,p.R100W|ENST00000230565,p.R100W|uc003oxz.1,p.R100W	protein_coding, processed_transcript	uc010jzc.1	nonsynonymous SNV	exon2	c.C298T	p.R100W	HGIVANDMFDPIRNKSFSLDHMNIY	HGIVANDMFDPIWNKSFSLDHMNIY	1.0	1.0	unscreened	-	3466_6:46135702-46135702 G>A_HGIVANDMFDPIWNKSFSLDHMNIY
13:67477653-67477653 C>T	0.0	3466	MELANOMA	-	-	-	-	PCDH9	uc001vik.3,p.E1041K|ENST00000377865,p.E1041K|NM_203487,p.E1041K|ENST00000544246,p.E1041K	protein_coding	uc001vik.3	nonsynonymous SNV	exon3	c.G3121A	p.E1041K	CPSSTGFHIQENEESHYESQRRVTF	CPSSTGFHIQENKESHYESQRRVTF	8.0	9.0	unscreened	-	3466_13:67477653-67477653 C>T_CPSSTGFHIQENKESHYESQRRVTF
19:38376579-38376579 C>T	0.0	3466	MELANOMA	-	-	-	-	WDR87	ENST00000303868,p.E2539K|uc010efu.2,p.E2539K|uc002ohj.2,p.E2578K|NM_001291088,p.E2578K|NM_031951,p.E2539K|ENST00000447313,p.E2578K	retained_intron, protein_coding	uc010efu.2	nonsynonymous SNV	exon6	c.G7615A	p.E2539K	WIRHVLERMEAGEQLSRDGFHRLCQ	WIRHVLERMEAGKQLSRDGFHRLCQ	1.0	8.0	unscreened	-	3466_19:38376579-38376579 C>T_WIRHVLERMEAGKQLSRDGFHRLCQ
11:65088805-65088805 G>A, 11:65088806-65088806 G>A	0.0	3466	MELANOMA	-	-	-	-	CDC42EP2	ENST00000533419,p.G146R|ENST00000279249,p.G146R|uc001odl.3,p.G146R|NM_006779,p.G146R|ENST00000544348,p.G146R|uc021qli.1,p.G146R	protein_coding	uc021qli.1	nonsynonymous SNV	exon1	c.G436A	p.G146R	HLETPQPSPQEGGSVDIWRIPETGS	HLETPQPSPQEGKSVDIWRIPETGS	4.0	5.0	unscreened	Dinucleotide variant, 11:65088806-65088806 G>A, residue 13 G>K PR	3466_11:65088805-65088805 G>A, 11:65088806-65088806 G>A_HLETPQPSPQEGKSVDIWRIPETGS
7:147092827-147092827 G>A	0.0	3466	MELANOMA	-	-	-	2	CNTNAP2	NM_014141,p.G542E|ENST00000361727,p.G542E|uc003weu.2,p.G542E	protein_coding, processed_transcript	uc003weu.2	nonsynonymous SNV	exon10	c.G1625A	p.G542E	LVNLYEVAQRKPGSFANVSIDMCAI	LVNLYEVAQRKPESFANVSIDMCAI	1.0	9.0	unscreened	-	3466_7:147092827-147092827 G>A_LVNLYEVAQRKPESFANVSIDMCAI
22:43894219-43894219 G>A	0.0	3466	MELANOMA	-	-	-	-	MPPED1	uc011apy.2,p.G246E|NM_001044370,p.G246E|uc011apz.2,p.G279E|ENST00000439548,p.G88E|uc011apx.2,p.G88E|ENST00000538182,p.G279E|ENST00000542779,p.G246E|ENST00000414469,p.G140E|uc011apw.2,p.G140E|ENST00000417669,p.G246E|uc011apv.2,p.G246E|ENST00000443721,p.G246E	protein_coding, processed_transcript	uc011apz.2	nonsynonymous SNV	exon5	c.G836A	p.G279E	LIPEGVDILITHGPPLGFLDWVPKK	LIPEGVDILITHEPPLGFLDWVPKK	1.0	5.0	unscreened	-	3466_22:43894219-43894219 G>A_LIPEGVDILITHEPPLGFLDWVPKK
4:126370470-126370470 A>T	0.0	3466	MELANOMA	-	-	-	1	FAT4	uc011cgp.2,p.N1065Y|uc003ifj.4,p.N2767Y|NM_001291285,p.N2769Y|ENST00000394329,p.N2767Y|NM_001291303,p.N2769Y|NM_024582,p.N2767Y|uc003ifi.1,p.N245Y|ENST00000335110,p.N1065Y	retained_intron, protein_coding	uc011cgp.2	nonsynonymous SNV	exon9	c.A3193T	p.N1065Y	TSVKVMINILDENDNAPRFSQIFSA	TSVKVMINILDEYDNAPRFSQIFSA	2.0	4.0	unscreened	-	3466_4:126370470-126370470 A>T_TSVKVMINILDEYDNAPRFSQIFSA
15:33954791-33954791 C>T	0.0	3466	MELANOMA	-	-	-	-	RYR3	ENST00000415757,p.P1687L|NM_001243996,p.P1687L|uc010bar.3,p.P1687L|ENST00000389232,p.P1687L|NM_001036,p.P1687L|uc001zhi.3,p.P1687L	retained_intron, protein_coding, processed_transcript	uc010bar.3	nonsynonymous SNV	exon35	c.C5060T	p.P1687L	TGEDHQKQSPEIPLESLRTKALSML	TGEDHQKQSPEILLESLRTKALSML	1.0	7.0	unscreened	-	3466_15:33954791-33954791 C>T_TGEDHQKQSPEILLESLRTKALSML
10:134259229-134259229 C>T	0.0	3466	MELANOMA	-	-	-	-	C10orf91	ENST00000321248,p.S20F|ENST00000392630,p.S20F|NM_173541,p.S20F|uc001llm.3,p.S20F	protein_coding, processed_transcript	uc001llm.3	nonsynonymous SNV	exon2	c.C59T	p.S20F	AESVSMGPVPGVSSLGACWTHDQDS	AESVSMGPVPGVFSLGACWTHDQDS	2.0	6.0	unscreened	-	3466_10:134259229-134259229 C>T_AESVSMGPVPGVFSLGACWTHDQDS
10:72495007-72495007 G>A	0.0	3466	MELANOMA	-	-	-	-	ADAMTS14	NM_080722,p.D479N|NM_139155,p.D482N|uc001jrg.3,p.D482N|uc001jrh.3,p.D479N|ENST00000373208,p.D482N|ENST00000373207,p.D479N	protein_coding	uc001jrh.3	nonsynonymous SNV	exon9	c.G1435A	p.D479N	QPPELPGINYSMDEQCRFDFGSGYQ	QPPELPGINYSMNEQCRFDFGSGYQ	4.0	7.0	unscreened	-	3466_10:72495007-72495007 G>A_QPPELPGINYSMNEQCRFDFGSGYQ
13:52952291-52952291 G>A	0.0	3466	MELANOMA	-	-	-	-	THSD1	ENST00000544466,p.S226F|ENST00000349258,p.S552F|NM_199263,p.S552F|ENST00000258613,p.S605F|uc001vgo.3,p.S605F|uc001vgp.3,p.S552F|uc010tgz.2,p.S226F|NM_018676,p.S605F	protein_coding	uc010tgz.2	nonsynonymous SNV	exon3	c.C677T	p.S226F	EQPAVSAGERPPSRLDLNVTQASCA	EQPAVSAGERPPFRLDLNVTQASCA	3.0	9.0	unscreened	-	3466_13:52952291-52952291 G>A_EQPAVSAGERPPFRLDLNVTQASCA
15:57967172-57967172 G>A	0.0	3466	MELANOMA	-	-	-	-	GCOM1,MYZAP	NM_152451,p.E376K|uc002aej.3,p.E376K|ENST00000380561,p.E345K|ENST00000496101,p.E345K|ENST00000380565,p.E376K|ENST00000460962,p.E376K|ENST00000572390,p.E376K	protein_coding	uc002aej.3	nonsynonymous SNV	exon11	c.G1126A	p.E376K	QKKVKQMVEENNELQSRLDYLTETQ	QKKVKQMVEENNKLQSRLDYLTETQ	2.0	8.0	unscreened	-	3466_15:57967172-57967172 G>A_QKKVKQMVEENNKLQSRLDYLTETQ
6:144033238-144033238 A>T	0.0	3466	MELANOMA	-	-	-	-	PHACTR2	NM_014721,p.K33N|uc003qjr.4,p.K44N|NM_001100165,p.K44N|ENST00000440869,p.K44N|ENST00000305766,p.K33N|ENST00000427704,p.K33N|uc003qjq.4,p.K33N|uc010khi.3,p.K44N|ENST00000397980,p.K44N|ENST00000367584,p.K101N|ENST00000367582,p.K44N|NM_001100166,p.K33N|NM_001100164,p.K44N|uc010khh.3,p.K33N|ENST00000451827,p.K44N	retained_intron, protein_coding	uc010khi.3	nonsynonymous SNV	exon2	c.A132T	p.K44N	AGSQTPPFKRKGKLSTIGKIFKPWK	AGSQTPPFKRKGNLSTIGKIFKPWK	7.0	9.0	unscreened	-	3466_6:144033238-144033238 A>T_AGSQTPPFKRKGNLSTIGKIFKPWK
X:35985766-35985766 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1714848,COSM1714847;OCCURENCE=1(skin)	-	CXorf22	NM_152632,p.G544E|uc004ddj.3,p.G544E|ENST00000493930,p.G544E|ENST00000297866,p.G544E	protein_coding, nonsense_mediated_decay	uc004ddj.3	nonsynonymous SNV	exon10	c.G1631A	p.G544E	DPGILPSIRNPTGKFVVKDLAKRKN	DPGILPSIRNPTEKFVVKDLAKRKN	1.0	9.0	unscreened	-	3466_X:35985766-35985766 G>A_DPGILPSIRNPTEKFVVKDLAKRKN
X:15599404-15599404 C>T	0.0	3466	MELANOMA	-	-	ID=COSM181616;OCCURENCE=1(large_intestine)	-	ACE2	ENST00000252519,p.G337E|uc004cxa.1,p.G337E|uc004cxb.2,p.G337E|ENST00000427411,p.G337E|NM_021804,p.G337E	protein_coding, processed_transcript	uc004cxb.2	nonsynonymous SNV	exon9	c.G1010A	p.G337E	QGFWENSMLTDPGNVQKAVCHPTAW	QGFWENSMLTDPENVQKAVCHPTAW	1.0	9.0	unscreened	-	3466_X:15599404-15599404 C>T_QGFWENSMLTDPENVQKAVCHPTAW
18:10714798-10714798 C>T	1.0	3466	MELANOMA	-	-	-	-	PIEZO2	ENST00000503781,p.R1738K|ENST00000580640,p.R1763K|NM_022068,p.R1738K|ENST00000302079,p.R1738K|uc002kos.2,p.R1738K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kos.2	nonsynonymous SNV	exon36	c.G5213A	p.R1738K	HPGAASGAQTAHRMDSLDSHDSISS	HPGAASGAQTAHKMDSLDSHDSISS	8.0	5.0	unscreened	-	3466_18:10714798-10714798 C>T_HPGAASGAQTAHKMDSLDSHDSISS
22:50987494-50987494 C>T	0.0	3466	MELANOMA	-	-	-	-	KLHDC7B	ENST00000395676,p.P300L|NM_138433,p.P300L|uc003bmi.3,p.P300L	protein_coding	uc003bmi.3	nonsynonymous SNV	exon1	c.C899T	p.P300L	LPSLYQGGRSGLPRGPRGEEPPAAA	LPSLYQGGRSGLLRGPRGEEPPAAA	3.0	7.0	unscreened	-	3466_22:50987494-50987494 C>T_LPSLYQGGRSGLLRGPRGEEPPAAA
19:6415658-6415658 G>A	1.0	3466	MELANOMA	-	-	-	-	KHSRP	ENST00000594745,p.P17S	retained_intron, protein_coding	ENST00000594745	nonsynonymous SNV	exon1	c.C49T	p.P17S	YSHYYQQPPGPVPGPAPAPAAPPAQ	YSHYYQQPPGPVSGPAPAPAAPPAQ	10.0	2.0	unscreened	-	3466_19:6415658-6415658 G>A_YSHYYQQPPGPVSGPAPAPAAPPAQ
2:242814042-242814042 C>T	0.0	3466	MELANOMA	-	-	-	-	RTP5	ENST00000343216,p.P112L|NM_173821,p.P112L|uc010fzu.1,p.P112L	protein_coding, nonsense_mediated_decay	uc010fzu.1	nonsynonymous SNV	exon2	c.C335T	p.P112L	PGDCQVRPPGEQPFLSRLVLHILQD	PGDCQVRPPGEQLFLSRLVLHILQD	1.0	6.0	unscreened	-	3466_2:242814042-242814042 C>T_PGDCQVRPPGEQLFLSRLVLHILQD
16:19234370-19234370 G>A	0.0	3466	MELANOMA	-	-	-	-	SYT17	ENST00000562034,p.E258K|uc002dfy.3,p.E315K|uc002dfw.3,p.E319K|ENST00000568115,p.E258K|NM_016524,p.E319K|uc002dfx.3,p.E258K|ENST00000355377,p.E319K|ENST00000562711,p.E315K	retained_intron, protein_coding, nonsense_mediated_decay	uc002dfy.3	nonsynonymous SNV	exon6	c.G943A	p.E315K	HWWKALIPSSQNEVELGELLLSLNY	HWWKALIPSSQNKVELGELLLSLNY	4.0	6.0	unscreened	-	3466_16:19234370-19234370 G>A_HWWKALIPSSQNKVELGELLLSLNY
1:248224664-248224664 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1296165;OCCURENCE=1(breast),1(urinary_tract)	-	OR2L3	uc001idx.1,p.M227I|ENST00000359959,p.M227I|NM_001004687,p.M227I	protein_coding	uc001idx.1	nonsynonymous SNV	exon1	c.G681A	p.M227I	CSYGRVLLAVYHMKSAEGRKKAYLT	CSYGRVLLAVYHIKSAEGRKKAYLT	2.0	8.0	unscreened	-	3466_1:248224664-248224664 G>A_CSYGRVLLAVYHIKSAEGRKKAYLT
X:107418346-107418346 C>T	0.0	3466	MELANOMA	-	-	-	-	COL4A6	ENST00000538570,p.G977E|uc004env.4,p.G977E|ENST00000394872,p.G978E|NM_001287760,p.G977E|NM_001847,p.G978E|ENST00000334504,p.G977E|NM_033641,p.G977E|NM_001287759,p.G977E|ENST00000545689,p.G977E|uc010npk.3,p.G977E|uc004enw.4,p.G978E|ENST00000372216,p.G978E|uc011msn.2,p.G977E|NM_001287758,p.G994E	retained_intron, protein_coding, processed_transcript	uc011msn.2	nonsynonymous SNV	exon30	c.G2930A	p.G977E	WLKGDKGSQGSAGSNGFPGPRGDKG	WLKGDKGSQGSAESNGFPGPRGDKG	1.0	9.0	unscreened	-	3466_X:107418346-107418346 C>T_WLKGDKGSQGSAESNGFPGPRGDKG
19:49442826-49442826 C>T	0.0	3466	MELANOMA	-	-	-	-	DHDH	ENST00000520557,p.P96L	protein_coding, nonsense_mediated_decay	ENST00000520557	nonsynonymous SNV	exon3	c.C287T	p.P96L	SGRIWEESHPRSPGRRPGPGWGGPA	SGRIWEESHPRSLGRRPGPGWGGPA	1.0	3.0	unscreened	-	3466_19:49442826-49442826 C>T_SGRIWEESHPRSLGRRPGPGWGGPA
10:49951100-49951100 G>A	0.0	3466	MELANOMA	-	-	-	-	WDFY4	uc001jha.4,p.D656N|NM_020945,p.D656N|ENST00000413659,p.D656N|ENST00000325239,p.D656N	protein_coding, processed_transcript	uc001jha.4	nonsynonymous SNV	exon12	c.G1966A	p.D656N	SSGFNGLLSLLSDLEGSLQEPPLQA	SSGFNGLLSLLSNLEGSLQEPPLQA	4.0	4.0	unscreened	-	3466_10:49951100-49951100 G>A_SSGFNGLLSLLSNLEGSLQEPPLQA
1:82456755-82456755 C>T	0.0	3466	MELANOMA	-	-	-	-	LPHN2	uc001diw.3,p.P1007S|ENST00000370730,p.P1393S|ENST00000370728,p.P1436S|uc001dit.4,p.P1380S|uc001diu.3,p.P1380S|NM_001297704,p.P1380S|uc001dis.3,p.P360S|ENST00000394879,p.P1438S|ENST00000370725,p.P1451S|ENST00000370721,p.P1361S|ENST00000359929,p.P1380S|ENST00000370727,p.P1408S|ENST00000319517,p.P1380S|ENST00000271029,p.P1408S|ENST00000370717,p.P1451S|ENST00000370723,p.P1438S|NM_012302,p.P1380S|ENST00000335786,p.P1393S	protein_coding, processed_transcript	uc001diw.3	nonsynonymous SNV	exon17	c.C3019T	p.P1007S	QISRGNSDGYIIPINKEGCIPEGDV	QISRGNSDGYIISINKEGCIPEGDV	4.0	3.0	unscreened	-	3466_1:82456755-82456755 C>T_QISRGNSDGYIISINKEGCIPEGDV
3:49898890-49898890 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1046320,COSM234497;OCCURENCE=1(endometrium),2(skin)	-	CAMKV	ENST00000466535,p.S128L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000466535	nonsynonymous SNV	exon5	c.C383T	p.S128L	SWRPWPICTHSRSCTGISSWRTWFT	SWRPWPICTHSRLCTGISSWRTWFT	1.0	4.0	unscreened	-	3466_3:49898890-49898890 G>A_SWRPWPICTHSRLCTGISSWRTWFT
16:89656313-89656313 G>A	0.0	3466	MELANOMA	-	-	-	-	CPNE7	NM_153636,p.R357K|uc002fnq.3,p.R357K|uc002fnp.3,p.R432K|NM_014427,p.R432K|ENST00000268720,p.R432K|ENST00000319518,p.R357K|ENST00000529800,p.R77K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002fnq.3	nonsynonymous SNV	exon11	c.G1070A	p.R357K	VGEICQDYDSDKRFSALGFGARIPP	VGEICQDYDSDKKFSALGFGARIPP	5.0	3.0	-	-	3466_16:89656313-89656313 G>A_VGEICQDYDSDKKFSALGFGARIPP
12:18891761-18891761 G>A	0.0	3466	MELANOMA	-	-	-	-	CAPZA3	NM_033328,p.G187R|uc001rdy.3,p.G187R|ENST00000317658,p.G187R	protein_coding	uc001rdy.3	nonsynonymous SNV	exon1	c.G559A	p.G187R	IFQVNPFLTQVTGRIFVQAHFFRCV	IFQVNPFLTQVTRRIFVQAHFFRCV	1.0	4.0	unscreened	-	3466_12:18891761-18891761 G>A_IFQVNPFLTQVTRRIFVQAHFFRCV
12:109366212-109366212 C>T	0.0	3466	MELANOMA	-	-	-	-	SVOP	ENST00000550436,p.G14E	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000550436	nonsynonymous SNV	exon1	c.G41A	p.G14E	GLCRHDVQLHALGKYLRPVRQENRA	GLCRHDVQLHALEKYLRPVRQENRA	1.0	9.0	unscreened	-	3466_12:109366212-109366212 C>T_GLCRHDVQLHALEKYLRPVRQENRA
1:156925522-156925522 C>T	1.0	3466	MELANOMA	-	-	-	-	ARHGEF11	uc001fqp.1,p.G70R	protein_coding, processed_transcript	uc001fqp.1	nonsynonymous SNV	exon2	c.G208A	p.G70R	EDKKRNPILKYIGKPKSSSQSIKPG	EDKKRNPILKYIRKPKSSSQSIKPG	9.0	1.0	unscreened	-	3466_1:156925522-156925522 C>T_EDKKRNPILKYIRKPKSSSQSIKPG
10:96534923-96534923 G>A	0.0	3466	MELANOMA	-	-	-	-	CYP2C19	NM_000769,p.E93K|uc010qnz.2,p.E93K|uc010qny.2,p.E71K|ENST00000371321,p.E93K	protein_coding, processed_transcript	uc010qnz.2	nonsynonymous SNV	exon2	c.G277A	p.E93K	EVVKEALIDLGEEFSGRGHFPLAER	EVVKEALIDLGEKFSGRGHFPLAER	1.0	4.0	unscreened	-	3466_10:96534923-96534923 G>A_EVVKEALIDLGEKFSGRGHFPLAER
15:42438337-42438337 C>T	0.0	3466	MELANOMA	-	-	-	-	PLA2G4F	ENST00000397272,p.E510K|ENST00000382396,p.E508K|uc001zoy.3,p.E140K|uc001zpa.3,p.E259K|NM_213600,p.E508K|uc010bcs.3,p.E295K|uc010bcr.3,p.E259K|uc001zoz.3,p.E508K	retained_intron, protein_coding, nonsense_mediated_decay	uc010bcs.3	nonsynonymous SNV	exon14	c.G883A	p.E295K	YTSVNVRTNLSGEDFAEWCEFTPYE	YTSVNVRTNLSGKDFAEWCEFTPYE	1.0	2.0	unscreened	-	3466_15:42438337-42438337 C>T_YTSVNVRTNLSGKDFAEWCEFTPYE
8:144620290-144620290 G>A	1.0	3466	MELANOMA	-	-	-	-	ZC3H3	NM_015117,p.S416L|ENST00000262577,p.S416L|uc003yyd.2,p.S416L	protein_coding	uc003yyd.2	nonsynonymous SNV	exon2	c.C1247T	p.S416L	ASQLSPVLSRSPSGDRPAVGHSGLK	ASQLSPVLSRSPLGDRPAVGHSGLK	5.0	7.0	-	-	3466_8:144620290-144620290 G>A_ASQLSPVLSRSPLGDRPAVGHSGLK
2:166003379-166003379 C>T	0.0	3466	MELANOMA	-	-	-	-	SCN3A	ENST00000409101,p.G514E|uc002ucy.3,p.G514E|NM_001081676,p.G514E|uc002ucz.3,p.G514E|ENST00000360093,p.G514E|uc002udb.1,p.G383E|uc002uda.1,p.G383E|NM_006922,p.G514E|ENST00000440431,p.G514E|NM_001081677,p.G514E|ENST00000283254,p.G514E|uc002ucx.3,p.G514E	retained_intron, protein_coding, processed_transcript	uc002udb.1	nonsynonymous SNV	exon8	c.G1148A	p.G383E	RRKKRRQREHLEGNNKGERDSFPKS	RRKKRRQREHLEENNKGERDSFPKS	1.0	2.0	unscreened	-	3466_2:166003379-166003379 C>T_RRKKRRQREHLEENNKGERDSFPKS
12:113304580-113304580 G>A	0.0	3466	MELANOMA	-	-	-	-	RPH3A	ENST00000415485,p.G127R|ENST00000548866,p.G78R|ENST00000547728,p.G127R|ENST00000551593,p.G127R|ENST00000420983,p.G127R|uc001ttz.3,p.G127R|ENST00000551052,p.G123R|ENST00000543106,p.G127R|NM_001143854,p.G127R|ENST00000447659,p.G78R|uc010sym.2,p.G78R|NM_014954,p.G123R|ENST00000389385,p.G127R|uc010syl.2,p.G127R|uc001tty.3,p.G123R|uc009zwe.1,p.G123R|ENST00000550901,p.G60R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sym.2	nonsynonymous SNV	exon5	c.G232A	p.G78R	CEDCKKNVCTKCGVETNNRLHSVWL	CEDCKKNVCTKCRVETNNRLHSVWL	1.0	9.0	unscreened	-	3466_12:113304580-113304580 G>A_CEDCKKNVCTKCRVETNNRLHSVWL
19:40903172-40903172 G>A	0.0	3466	MELANOMA	-	-	-	-	PRX	uc002onr.3,p.P363S|ENST00000324001,p.P363S|NM_181882,p.P363S|uc002onq.3,p.P224S	protein_coding, processed_transcript	uc002onr.3	nonsynonymous SNV	exon7	c.C1087T	p.P363S	PEVALKMPRLSFPRFGARAKEVAEA	PEVALKMPRLSFSRFGARAKEVAEA	4.0	1.0	unscreened	-	3466_19:40903172-40903172 G>A_PEVALKMPRLSFSRFGARAKEVAEA
3:30769837-30769837 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1692500,COSM1692501;OCCURENCE=1(skin)	-	GADL1	ENST00000282538,p.G488E|uc003cep.2,p.G488E|NM_207359,p.G488E	protein_coding, processed_transcript	uc003cep.2	nonsynonymous SNV	exon15	c.G1463A	p.G488E	KGSLMLGYQPHRGKVNFFRQVVISP	KGSLMLGYQPHREKVNFFRQVVISP	1.0	8.0	unscreened	-	3466_3:30769837-30769837 C>T_KGSLMLGYQPHREKVNFFRQVVISP
14:75245382-75245382 C>T	1.0	3466	MELANOMA	-	-	-	-	YLPM1	ENST00000238571,p.P369L|ENST00000325680,p.P369L|NM_019589,p.P369L|uc001xqj.4,p.P369L|ENST00000552421,p.P369L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xqj.4	nonsynonymous SNV	exon2	c.C1106T	p.P369L	NEEVPPPLPPEEPQSEDPEEDARLK	NEEVPPPLPPEELQSEDPEEDARLK	9.0	4.0	-	-	3466_14:75245382-75245382 C>T_NEEVPPPLPPEELQSEDPEEDARLK
6:45882139-45882139 T>G	0.0	3466	MELANOMA	-	-	-	-	CLIC5	NM_001114086,p.E297D|ENST00000544153,p.E138D|NM_001256023,p.E138D|NM_016929,p.E138D|ENST00000185206,p.E297D|uc003oxv.3,p.E297D|ENST00000339561,p.E138D|uc003oxx.4,p.E138D|uc003oxu.4,p.E138D	protein_coding, processed_transcript	uc003oxx.4	nonsynonymous SNV	exon5	c.A414C	p.E138D	IKNTKQQNNAALERGLTKALKKLDD	IKNTKQQNNAALDRGLTKALKKLDD	2.0	1.0	unscreened	-	3466_6:45882139-45882139 T>G_IKNTKQQNNAALDRGLTKALKKLDD
1:160109750-160109750 C>T	0.0	3466	MELANOMA	-	-	-	-	ATP1A2	ENST00000392233,p.L993F	protein_coding, processed_transcript	ENST00000392233	nonsynonymous SNV	exon22	c.C2977T	p.L993F	NLLIFIYDEVRKLILRRYPGGWVEK	NLLIFIYDEVRKFILRRYPGGWVEK	2.0	4.0	unscreened	-	3466_1:160109750-160109750 C>T_NLLIFIYDEVRKFILRRYPGGWVEK
1:160109750-160109750 C>T	0.0	3466	MELANOMA	-	-	-	-	ATP1A2	ENST00000361216,p.L1004F|uc001fvc.3,p.L1004F|NM_000702,p.L1004F|uc001fvd.3,p.L723F	protein_coding, processed_transcript	uc001fvd.3	nonsynonymous SNV	exon15	c.C2167T	p.L723F	SLLIFIYDEVRKLILRRYPGGWVEK	SLLIFIYDEVRKFILRRYPGGWVEK	2.0	4.0	unscreened	-	3466_1:160109750-160109750 C>T_SLLIFIYDEVRKFILRRYPGGWVEK
3:28566114-28566114 G>A	0.0	3466	MELANOMA	-	-	-	-	ZCWPW2	uc010hfo.3,p.G141R|NM_001040432,p.G336R|uc003cei.3,p.G336R|ENST00000421010,p.G336R|uc003ceh.3,p.G336R|ENST00000383768,p.G336R	protein_coding	uc010hfo.3	nonsynonymous SNV	exon8	c.G421A	p.G141R	DYLVIDGIKLKAGECIEDITNKFKE	DYLVIDGIKLKARECIEDITNKFKE	2.0	5.0	unscreened	-	3466_3:28566114-28566114 G>A_DYLVIDGIKLKARECIEDITNKFKE
16:19234370-19234370 G>A	0.0	3466	MELANOMA	-	-	-	-	SYT17	ENST00000568433,p.E13K	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000568433	nonsynonymous SNV	exon2	c.G37A	p.E13K	MGTFFAFMEKKNEVELGELLLSLNY	MGTFFAFMEKKNKVELGELLLSLNY	4.0	6.0	unscreened	-	3466_16:19234370-19234370 G>A_MGTFFAFMEKKNKVELGELLLSLNY
3:156763138-156763138 C>T	0.0	3466	MELANOMA	-	-	-	-	LEKR1	ENST00000470811,p.L256F|uc021xgh.1,p.L560F|NM_001004316,p.L560F|ENST00000356539,p.L560F	retained_intron, protein_coding, processed_transcript	uc021xgh.1	nonsynonymous SNV	exon13	c.C1678T	p.L560F	EQFNQSQEENTFLQETVRRECEERF	EQFNQSQEENTFFQETVRRECEERF	1.0	4.0	unscreened	-	3466_3:156763138-156763138 C>T_EQFNQSQEENTFFQETVRRECEERF
1:154519915-154519915 G>A	0.0	3466	MELANOMA	-	-	-	-	TDRD10	ENST00000368480,p.R328Q|NM_182499,p.R328Q|uc001ffd.3,p.R328Q|uc001ffe.3,p.R249Q|NM_001098475,p.R328Q|uc009wow.3,p.R328Q|ENST00000368482,p.R328Q	protein_coding, processed_transcript	uc009wow.3	nonsynonymous SNV	exon12	c.G983A	p.R328Q	EKDILSSYEVVHRILKGKITGALNS	EKDILSSYEVVHQILKGKITGALNS	2.0	3.0	unscreened	-	3466_1:154519915-154519915 G>A_EKDILSSYEVVHQILKGKITGALNS
1:156925522-156925522 C>T	1.0	3466	MELANOMA	-	-	-	-	ARHGEF11	uc001fqo.3,p.G541R|NM_014784,p.G541R|ENST00000361409,p.G541R|NM_198236,p.G581R|uc001fqn.3,p.G581R|ENST00000368194,p.G581R	protein_coding, processed_transcript	uc001fqo.3	nonsynonymous SNV	exon19	c.G1621A	p.G541R	EDKKRNPILKYIGKPKSSSQSTFHI	EDKKRNPILKYIRKPKSSSQSTFHI	9.0	1.0	-	-	3466_1:156925522-156925522 C>T_EDKKRNPILKYIRKPKSSSQSTFHI
11:8414173-8414173 G>A	0.0	3466	MELANOMA	-	-	-	-	STK33	uc001mgi.1,p.L477F|ENST00000396672,p.L477F|NM_001289058,p.L436F|ENST00000534493,p.L436F|ENST00000358872,p.L290F|ENST00000444064,p.L166F|uc001mgj.1,p.L477F|NM_030906,p.L477F|NM_001289059,p.L290F|ENST00000396673,p.L411F|uc001mgl.3,p.L290F|ENST00000315204,p.L477F|uc001mgk.1,p.L477F|NM_001289061,p.L477F|ENST00000447869,p.L477F|uc010rbn.1,p.L436F	retained_intron, protein_coding, processed_transcript	uc010rbn.1	nonsynonymous SNV	exon14	c.C1306T	p.L436F	DMCSSSFTSSKLLPAEIKGEMEKTP	DMCSSSFTSSKLFPAEIKGEMEKTP	1.0	2.0	unscreened	-	3466_11:8414173-8414173 G>A_DMCSSSFTSSKLFPAEIKGEMEKTP
12:80927888-80927888 G>A	0.0	3466	MELANOMA	-	-	-	-	PTPRQ	ENST00000266688,p.A921T	retained_intron, protein_coding, processed_transcript	ENST00000266688	nonsynonymous SNV	exon23	c.G2761A	p.A921T	LDYNVEYSAYVTASTRFGDGKTRSN	LDYNVEYSAYVTTSTRFGDGKTRSN	1.0	9.0	unscreened	-	3466_12:80927888-80927888 G>A_LDYNVEYSAYVTTSTRFGDGKTRSN
6:55223750-55223750 G>A	0.0	3466	MELANOMA	-	-	-	-	GFRAL	NM_207410,p.E256K|ENST00000340465,p.E256K|uc003pcm.1,p.E256K	protein_coding	uc003pcm.1	nonsynonymous SNV	exon6	c.G766A	p.E256K	CWQRVTRKCHEDENCISTLSKQDLT	CWQRVTRKCHEDKNCISTLSKQDLT	1.0	1.0	unscreened	-	3466_6:55223750-55223750 G>A_CWQRVTRKCHEDKNCISTLSKQDLT
2:230096680-230096680 C>T	0.0	3466	MELANOMA	-	-	-	-	PID1	ENST00000354069,p.A31T|uc002vpr.4,p.A31T	protein_coding, processed_transcript, nonsense_mediated_decay	uc002vpr.4	nonsynonymous SNV	exon1	c.G91A	p.A31T	SKCCSSHKTIKQARTLIMIFLASGT	SKCCSSHKTIKQTRTLIMIFLASGT	1.0	8.0	unscreened	-	3466_2:230096680-230096680 C>T_SKCCSSHKTIKQTRTLIMIFLASGT
6:55625290-55625290 C>T	0.0	3466	MELANOMA	-	-	-	2	BMP5	NM_021073,p.E357K|uc003pcq.3,p.E357K|ENST00000370830,p.E357K	protein_coding	uc003pcq.3	nonsynonymous SNV	exon5	c.G1069A	p.E357K	NTSEQKQACKKHELYVSFRDLGWQD	NTSEQKQACKKHKLYVSFRDLGWQD	2.0	9.0	unscreened	-	3466_6:55625290-55625290 C>T_NTSEQKQACKKHKLYVSFRDLGWQD
6:26413738-26413738 C>T	1.0	3466	MELANOMA	-	-	-	-	BTN3A1	uc003nhv.3,p.P454S|uc011dkk.2,p.P402S|NM_007048,p.P454S|ENST00000289361,p.P454S|NM_001145008,p.P402S|ENST00000414912,p.P402S	retained_intron, protein_coding	uc011dkk.2	nonsynonymous SNV	exon10	c.C1204T	p.P402S	RTLTEPRTNLKLPKPPKKVGVFLDY	RTLTEPRTNLKLSKPPKKVGVFLDY	10.0	9.0	unscreened	-	3466_6:26413738-26413738 C>T_RTLTEPRTNLKLSKPPKKVGVFLDY
8:98289103-98289103 G>A	0.0	3466	MELANOMA	-	-	-	-	TSPYL5	ENST00000322128,p.R324C|NM_033512,p.R324C|uc003yhy.3,p.R324C	protein_coding	uc003yhy.3	nonsynonymous SNV	exon1	c.C970T	p.R324C	EYGCGPSGQVVSRSTPIQWLPGHDL	EYGCGPSGQVVSCSTPIQWLPGHDL	4.0	9.0	unscreened	-	3466_8:98289103-98289103 G>A_EYGCGPSGQVVSCSTPIQWLPGHDL
18:28972164-28972164 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1711134,COSM1711135;OCCURENCE=1(skin)	-	DSG4	NM_001134453,p.R289Q|uc002kwq.2,p.R289Q|NM_177986,p.R289Q|ENST00000308128,p.R289Q|ENST00000359747,p.R289Q|uc002kwr.2,p.R289Q	protein_coding	uc002kwr.2	nonsynonymous SNV	exon8	c.G866A	p.R289Q	SIEENCLSSELIRLQAIDLDEEGTD	SIEENCLSSELIQLQAIDLDEEGTD	1.0	3.0	unscreened	-	3466_18:28972164-28972164 G>A_SIEENCLSSELIQLQAIDLDEEGTD
1:236917289-236917289 G>C	0.0	3466	MELANOMA	-	-	-	-	ACTN2	uc010pxu.1,p.E317Q|NM_001278343,p.E628Q|uc001hyf.2,p.E628Q|NM_001278344,p.E420Q|ENST00000366578,p.E628Q|ENST00000546208,p.E122Q|ENST00000542672,p.E628Q|NM_001103,p.E628Q|uc009xgi.1,p.E628Q|uc001hyg.2,p.E420Q	protein_coding, processed_transcript	uc010pxu.1	nonsynonymous SNV	exon9	c.G949C	p.E317Q	QLVPIRDQSLQEELARQHANERLRR	QLVPIRDQSLQEQLARQHANERLRR	5.0	1.0	unscreened	-	3466_1:236917289-236917289 G>C_QLVPIRDQSLQEQLARQHANERLRR
15:23931487-23931487 C>T	0.0	3466	MELANOMA	-	-	-	-	NDN	uc001ywk.3,p.R293Q|NM_002487,p.R293Q|ENST00000331837,p.R293Q	protein_coding	uc001ywk.3	nonsynonymous SNV	exon1	c.G878A	p.R293Q	RVFKKDPQAWPSRYREALEEARALR	RVFKKDPQAWPSQYREALEEARALR	4.0	2.0	unscreened	-	3466_15:23931487-23931487 C>T_RVFKKDPQAWPSQYREALEEARALR
16:20376766-20376766 C>T	0.0	3466	MELANOMA	-	-	-	-	PDILT	uc002dhc.1,p.E405K|NM_174924,p.E405K|ENST00000302451,p.E405K	protein_coding	uc002dhc.1	nonsynonymous SNV	exon9	c.G1213A	p.E405K	VGKNFNVVVFDKEKDVFVMFYAPWS	VGKNFNVVVFDKKKDVFVMFYAPWS	1.0	1.0	unscreened	-	3466_16:20376766-20376766 C>T_VGKNFNVVVFDKKKDVFVMFYAPWS
8:21996229-21996229 G>A	1.0	3466	MELANOMA	-	-	-	-	REEP4	NM_025232,p.P211S|ENST00000306306,p.P211S|uc003xau.1,p.P211S	retained_intron, protein_coding	uc003xau.1	nonsynonymous SNV	exon7	c.C631T	p.P211S	ECWSDTEAVPRAPARPREKPLIRSQ	ECWSDTEAVPRASARPREKPLIRSQ	6.0	8.0	unscreened	-	3466_8:21996229-21996229 G>A_ECWSDTEAVPRASARPREKPLIRSQ
7:131859545-131859545 C>T	0.0	3466	MELANOMA	-	-	-	-	PLXNA4	NM_020911,p.D1337N|ENST00000359827,p.D1337N|uc003vra.4,p.D1337N|ENST00000321063,p.D1337N	retained_intron, protein_coding	uc003vra.4	nonsynonymous SNV	exon21	c.G4009A	p.D1337N	LFPGIEDHPVLRDLEVPGYRQERVE	LFPGIEDHPVLRNLEVPGYRQERVE	5.0	1.0	unscreened	-	3466_7:131859545-131859545 C>T_LFPGIEDHPVLRNLEVPGYRQERVE
5:126755819-126755819 G>A	0.0	3466	MELANOMA	-	-	-	-	MEGF10	uc003kui.4,p.G504R|ENST00000274473,p.G504R|uc010jdd.1,p.G504R|ENST00000418761,p.G504R|uc010jdc.1,p.G504R|NM_032446,p.G504R|ENST00000508365,p.G504R|NM_001256545,p.G504R|ENST00000503335,p.G504R|uc003kuh.4,p.G504R	retained_intron, protein_coding, processed_transcript	uc010jdd.1	nonsynonymous SNV	exon12	c.G1510A	p.G504R	GFGCNLTCQCLNGGACNTLDGTCTC	GFGCNLTCQCLNRGACNTLDGTCTC	2.0	9.0	unscreened	-	3466_5:126755819-126755819 G>A_GFGCNLTCQCLNRGACNTLDGTCTC
6:43418636-43418636 C>T	0.0	3466	MELANOMA	-	-	-	-	DLK2	NM_001286656,p.G259R|NM_023932,p.G265R|ENST00000372485,p.G259R|ENST00000357338,p.G265R|ENST00000414245,p.G259R|uc003ova.3,p.G265R|ENST00000372488,p.G265R|NM_206539,p.G265R|NM_001286655,p.G228R|uc003ovb.3,p.G265R	protein_coding	uc003ovb.3	nonsynonymous SNV	exon6	c.G793A	p.G265R	VPDPPTTVDTPLGPTSAVVVPATGP	VPDPPTTVDTPLRPTSAVVVPATGP	1.0	9.0	unscreened	-	3466_6:43418636-43418636 C>T_VPDPPTTVDTPLRPTSAVVVPATGP
6:37618104-37618104 C>T	1.0	3466	MELANOMA	-	-	-	-	MDGA1	NM_153487,p.E464K|uc003onu.1,p.E464K|ENST00000297153,p.E464K|ENST00000434837,p.E464K|ENST00000505425,p.E464K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003onu.1	nonsynonymous SNV	exon8	c.G1390A	p.E464K	TVREGSPAELQCEVRGKPRPPVLWS	TVREGSPAELQCKVRGKPRPPVLWS	5.0	9.0	-	-	3466_6:37618104-37618104 C>T_TVREGSPAELQCKVRGKPRPPVLWS
8:87242134-87242134 G>A	0.0	3466	MELANOMA	-	-	-	-	SLC7A13	NM_138817,p.P125S|ENST00000297524,p.P125S|uc003ydr.1,p.P125S|uc003ydq.1,p.P125S|ENST00000419776,p.P125S	protein_coding, processed_transcript	uc003ydr.1	nonsynonymous SNV	exon1	c.C373T	p.P125S	LLLAEYSIQPFFPSCSVPKLPKKCL	LLLAEYSIQPFFSSCSVPKLPKKCL	1.0	8.0	unscreened	-	3466_8:87242134-87242134 G>A_LLLAEYSIQPFFSSCSVPKLPKKCL
2:160673378-160673378 A>C	0.0	3466	MELANOMA	-	-	-	-	LY75,LY75-CD302	ENST00000554112,p.F1440C|uc002ubb.4,p.F1440C|uc002ubc.4,p.F1440C|ENST00000553424,p.F1440C|ENST00000504764,p.F1440C|NM_001198759,p.F1440C|NM_001198760,p.F1440C|NM_002349,p.F1440C|ENST00000263636,p.F1440C|ENST00000505052,p.F1440C|uc010fos.3,p.F1440C	retained_intron, protein_coding, processed_transcript	uc010fos.3	nonsynonymous SNV	exon30	c.T4319G	p.F1440C	HLASVHNQNGQLFLEDIVKRDGFPL	HLASVHNQNGQLCLEDIVKRDGFPL	5.0	7.0	unscreened	-	3466_2:160673378-160673378 A>C_HLASVHNQNGQLCLEDIVKRDGFPL
12:52283252-52283252 C>T	0.0	3466	MELANOMA	-	-	-	-	ANKRD33	ENST00000301190,p.A208V|uc001rzd.3,p.A208V|NM_182608,p.A208V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rzd.3	nonsynonymous SNV	exon4	c.C623T	p.A208V	RDQRGLTALMKAAMRNRCADLTAVD	RDQRGLTALMKAVMRNRCADLTAVD	1.0	9.0	unscreened	-	3466_12:52283252-52283252 C>T_RDQRGLTALMKAVMRNRCADLTAVD
7:150501930-150501930 G>A	0.0	3466	MELANOMA	-	-	-	-	TMEM176A	NM_018487,p.E228K|ENST00000004103,p.E228K|ENST00000484928,p.E228K|ENST00000461345,p.E169K|uc003whx.1,p.E228K	retained_intron, protein_coding	uc003whx.1	nonsynonymous SNV	exon7	c.G682A	p.E228K	RMFPTKGKRDQKEMLEVSGI	RMFPTKGKRDQKKMLEVSGI	6.0	9.0	unscreened	-	3466_7:150501930-150501930 G>A_RMFPTKGKRDQKKMLEVSGI
1:240969562-240969562 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1685854,COSM1685856,COSM1685855;OCCURENCE=2(skin)	2	RGS7	ENST00000366562,p.E383K|uc009xgn.1,p.E330K|NM_002924,p.E383K|uc001hyt.2,p.E215K|NM_001282775,p.E383K|uc010pyh.2,p.E357K|ENST00000331110,p.E357K|ENST00000348120,p.E330K|ENST00000366565,p.E383K|ENST00000440928,p.E214K|uc001hyu.2,p.E383K|ENST00000446183,p.E299K|uc010pyj.1,p.E299K|ENST00000366564,p.E383K|ENST00000366563,p.E383K|uc001hyv.2,p.E383K|NM_001282778,p.E383K|ENST00000401882,p.E330K|uc001hyw.2,p.E383K|NM_001282773,p.E330K|ENST00000407727,p.E383K	protein_coding	uc010pyj.1	nonsynonymous SNV	exon15	c.G895A	p.E299K	KRPIKEVPSRVQEIWQEFLAPGAPS	KRPIKEVPSRVQKIWQEFLAPGAPS	1.0	8.0	unscreened	-	3466_1:240969562-240969562 C>T_KRPIKEVPSRVQKIWQEFLAPGAPS
22:21331002-21331002 G>A	0.0	3466	MELANOMA	-	-	-	-	AIFM3	uc002ztl.2,p.E371K|ENST00000399163,p.E365K|ENST00000335375,p.E353K|uc011ahx.1,p.E353K|ENST00000333607,p.E365K|NM_001146288,p.E371K|NM_144704,p.E365K|uc002ztj.2,p.E365K|ENST00000399167,p.E365K|uc002ztk.2,p.E365K|ENST00000405089,p.E371K|ENST00000440238,p.E365K|NM_001018060,p.E365K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ahx.1	nonsynonymous SNV	exon11	c.G1057A	p.E353K	EKAHSVSVVELEETPFRRFLGERVG	EKAHSVSVVELEKTPFRRFLGERVG	2.0	2.0	unscreened	-	3466_22:21331002-21331002 G>A_EKAHSVSVVELEKTPFRRFLGERVG
12:15637070-15637070 C>T	0.0	3466	MELANOMA	-	-	-	-	PTPRO	uc001rcu.2,p.P80S|uc001rcw.2,p.P80S|ENST00000543886,p.P80S|ENST00000348962,p.P80S|ENST00000281171,p.P80S|NM_030667,p.P80S|NM_002848,p.P80S|uc001rcv.2,p.P80S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rcw.2	nonsynonymous SNV	exon2	c.C238T	p.P80S	FFEFEEFNSTLPPPVIFKASYHGLY	FFEFEEFNSTLPSPVIFKASYHGLY	4.0	6.0	unscreened	-	3466_12:15637070-15637070 C>T_FFEFEEFNSTLPSPVIFKASYHGLY
11:55703252-55703252 C>T, 11:55703264-55703264 C>T	0.0	3466	MELANOMA	-	-	-	-	OR5I1	uc010ris.2,p.G205S|ENST00000301532,p.G205S|NM_006637,p.G205S	protein_coding	uc010ris.2	nonsynonymous SNV	exon1	c.G613A	p.G205S	DTTINEWLLSTYGSSVEIICFIIIIISYF	DTTINEWLLSTYSSSVKIICFIIIIISYF	1.0	4.0	unscreened	Additional variant within 36 nucleotides, 11:55703252-55703252 C>T, residue 17 E>K PR	3466_11:55703252-55703252 C>T, 11:55703264-55703264 C>T_DTTINEWLLSTYSSSVKIICFIIIIISYF
3:51266263-51266263 G>A	0.0	3466	MELANOMA	-	-	-	-	DOCK3	ENST00000266037,p.V607M|uc011bds.2,p.V607M|NM_004947,p.V607M	protein_coding	uc011bds.2	nonsynonymous SNV	exon18	c.G1819A	p.V607M	STQLSSTKLTQNVDLLALLKWKAFP	STQLSSTKLTQNMDLLALLKWKAFP	1.0	5.0	unscreened	-	3466_3:51266263-51266263 G>A_STQLSSTKLTQNMDLLALLKWKAFP
18:44057727-44057727 G>A	0.0	3466	MELANOMA	-	-	-	-	LOXHD1	uc010xcu.1,p.T416I|ENST00000398722,p.T1899I|ENST00000536736,p.T2115I|NM_001145473,p.T416I|uc002lcd.4,p.T416I|NM_144612,p.T2115I|ENST00000300591,p.T1066I|uc010xcv.2,p.T1048I|ENST00000398686,p.T416I|ENST00000579038,p.T970I|ENST00000398705,p.T416I|uc002lce.4,p.T970I|ENST00000441893,p.T1048I|uc002lcf.4,p.T1066I|NM_001145472,p.T1066I|NM_001173129,p.T416I|ENST00000582408,p.T1004I|ENST00000441551,p.T1971I|uc010xcw.1,p.T2115I	retained_intron, protein_coding, nonsense_mediated_decay	uc010xcw.1	nonsynonymous SNV	exon40	c.C6344T	p.T2115I	EPGAGTDANVFVTIFGANGDTGKRE	EPGAGTDANVFVIIFGANGDTGKRE	1.0	6.0	unscreened	-	3466_18:44057727-44057727 G>A_EPGAGTDANVFVIIFGANGDTGKRE
3:189612085-189612085 C>T	0.0	3466	MELANOMA	-	-	-	1	TP63	uc003fry.2,p.P613S|ENST00000382063,p.P528S|ENST00000456148,p.P515S|ENST00000440651,p.P609S|uc003fsc.2,p.P519S|uc010hzd.1,p.P434S|ENST00000354600,p.P519S|ENST00000264731,p.P613S|NM_003722,p.P613S|NM_001114980,p.P519S|ENST00000449992,p.P434S	retained_intron, protein_coding	uc010hzd.1	nonsynonymous SNV	exon11	c.C1300T	p.P434S	ILDHRQLHEFSSPSHLLRTPSSAST	ILDHRQLHEFSSSSHLLRTPSSAST	2.0	3.0	unscreened	-	3466_3:189612085-189612085 C>T_ILDHRQLHEFSSSSHLLRTPSSAST
9:107367089-107367089 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1701474;OCCURENCE=1(skin)	-	OR13C2	NM_001004481,p.D274N|ENST00000542196,p.D274N|uc011lvq.2,p.D274N	protein_coding	uc011lvq.2	nonsynonymous SNV	exon1	c.G820A	p.D274N	PKSKETLNSDDLDATDKIISMFYGV	PKSKETLNSDDLNATDKIISMFYGV	1.0	9.0	unscreened	-	3466_9:107367089-107367089 C>T_PKSKETLNSDDLNATDKIISMFYGV
7:37903010-37903010 C>T	0.0	3466	MELANOMA	-	-	-	-	NME8	ENST00000440017,p.P134S|ENST00000199447,p.P134S|NM_016616,p.P134S|ENST00000444718,p.P79S|ENST00000455500,p.P79S|uc003tfn.3,p.P134S	retained_intron, protein_coding, nonsense_mediated_decay	uc003tfn.3	nonsynonymous SNV	exon8	c.C400T	p.P134S	AGEMARPQYPEIPLVDSDSEVSEES	AGEMARPQYPEISLVDSDSEVSEES	1.0	8.0	unscreened	-	3466_7:37903010-37903010 C>T_AGEMARPQYPEISLVDSDSEVSEES
19:56423937-56423937 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1712900;OCCURENCE=1(skin)	-	NLRP13	uc010ygg.2,p.E416K|ENST00000588751,p.E416K|ENST00000342929,p.E416K|NM_176810,p.E416K	protein_coding	uc010ygg.2	nonsynonymous SNV	exon5	c.G1246A	p.E416K	EVEKILQQLRKNETLFHSCSAPMVC	EVEKILQQLRKNKTLFHSCSAPMVC	1.0	1.0	unscreened	-	3466_19:56423937-56423937 C>T_EVEKILQQLRKNKTLFHSCSAPMVC
11:20869214-20869214 C>T	0.0	3466	MELANOMA	-	-	-	-	NELL1	uc001mqf.3,p.P141S|ENST00000532434,p.P141S|ENST00000357134,p.P141S|NM_006157,p.P141S|NM_201551,p.P141S|uc001mqe.3,p.P141S|ENST00000298925,p.P169S|NM_001288713,p.P169S|uc009yid.3,p.P169S	retained_intron, protein_coding, processed_transcript	uc009yid.3	nonsynonymous SNV	exon5	c.C505T	p.P169S	YIHNGKPRTEALPYRMADGQWHKVA	YIHNGKPRTEALSYRMADGQWHKVA	1.0	7.0	unscreened	-	3466_11:20869214-20869214 C>T_YIHNGKPRTEALSYRMADGQWHKVA
10:124457329-124457329 C>T	0.0	3466	MELANOMA	-	-	-	-	C10orf120	ENST00000329446,p.D310N|uc001lgn.3,p.D310N|NM_001010912,p.D310N	protein_coding	uc001lgn.3	nonsynonymous SNV	exon3	c.G928A	p.D310N	SEFPGDLMLMNQDFISRRDHFSDLVKTYSLEEESI	SEFPGDLMLMNQNFISRRDHFSNLVKTYSLEEESI	1.0	3.0	unscreened	Additional variant within 36 nucleotides, 10:124457359-124457359 C>T. residue 23 Q>N PR	3466_10:124457329-124457329 C>T_SEFPGDLMLMNQNFISRRDHFSNLVKTYSLEEESI
3:100295834-100295834 G>A	1.0	3466	MELANOMA	-	-	-	-	TMEM45A	uc003dua.1,p.R283Q|NM_018004,p.R267Q|ENST00000403410,p.R283Q|uc003dtz.1,p.R267Q|ENST00000323523,p.R267Q	retained_intron, protein_coding, processed_transcript	uc003dua.1	nonsynonymous SNV	exon7	c.G848A	p.R283Q	CSSEVGLLKNAEREQESEEEM	CSSEVGLLKNAEQEQESEEEM	8.0	5.0	-	-	3466_3:100295834-100295834 G>A_CSSEVGLLKNAEQEQESEEEM
20:20243690-20243690 C>T	0.0	3466	MELANOMA	-	-	-	-	CFAP61	ENST00000245957,p.P807S|uc010zse.2,p.P787S|NM_015585,p.P807S|uc002wrv.3,p.P163S|ENST00000377308,p.P163S|ENST00000389656,p.P163S|ENST00000377309,p.P163S|uc002wru.3,p.P807S|ENST00000377293,p.P163S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zse.2	nonsynonymous SNV	exon21	c.C2359T	p.P787S	PNSSQRRYTGKVPCNHFTLNEEEDC	PNSSQRRYTGKVSCNHFTLNEEEDC	1.0	6.0	unscreened	-	3466_20:20243690-20243690 C>T_PNSSQRRYTGKVSCNHFTLNEEEDC
19:56244364-56244364 A>G	0.0	3466	MELANOMA	-	-	-	-	NLRP9	ENST00000332836,p.L278P|ENST00000590200,p.L278P|uc002qly.3,p.L278P|NM_176820,p.L278P	protein_coding	uc002qly.3	nonsynonymous SNV	exon2	c.T833C	p.L278P	LPESSLLIALGKLAMQKHYFMLRHP	LPESSLLIALGKPAMQKHYFMLRHP	1.0	1.0	unscreened	-	3466_19:56244364-56244364 A>G_LPESSLLIALGKPAMQKHYFMLRHP
X:125955489-125955489 C>T	0.0	3466	MELANOMA	-	-	-	-	PRR32	ENST00000371125,p.P290S|NM_001122716,p.P290S|uc010nra.3,p.P290S	protein_coding	uc010nra.3	nonsynonymous SNV	exon2	c.C868T	p.P290S	YFAHFHSGGMPAPASPNREHS	YFAHFHSGGMPASASPNREHS	1.0	9.0	unscreened	-	3466_X:125955489-125955489 C>T_YFAHFHSGGMPASASPNREHS
17:55962873-55962873 G>A	1.0	3466	MELANOMA	-	-	-	-	CUEDC1	NM_001271875,p.A18V|uc002ivd.2,p.A18V|ENST00000577830,p.A18V|ENST00000360238,p.A18V|NM_001292025,p.A18V|ENST00000407144,p.A18V|uc002ive.2,p.A18V	retained_intron, protein_coding, processed_transcript	uc002ive.2	nonsynonymous SNV	exon2	c.C53T	p.A18V	RRSSSGSGGGGTAGARGGGGGTAAP	RRSSSGSGGGGTVGARGGGGGTAAP	7.0	9.0	-	-	3466_17:55962873-55962873 G>A_RRSSSGSGGGGTVGARGGGGGTAAP
4:111469442-111469442 G>A	0.0	3466	MELANOMA	-	-	-	-	ENPEP	NM_001977,p.S704N|ENST00000265162,p.S704N|uc003iab.4,p.S704N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003iab.4	nonsynonymous SNV	exon14	c.G2111A	p.S704N	WQRVISAVTYIISMFEDDKELYPMI	WQRVISAVTYIINMFEDDKELYPMI	4.0	6.0	unscreened	-	3466_4:111469442-111469442 G>A_WQRVISAVTYIINMFEDDKELYPMI
12:52710665-52710665 G>A	0.0	3466	MELANOMA	-	-	-	-	KRT83	ENST00000293670,p.A298V|NM_002282,p.A298V|uc001saf.2,p.A298V	protein_coding	uc001saf.2	nonsynonymous SNV	exon5	c.C893T	p.A298V	QYDDIATRSRAEAESWYRSKCEEMK	QYDDIATRSRAEVESWYRSKCEEMK	1.0	9.0	unscreened	-	3466_12:52710665-52710665 G>A_QYDDIATRSRAEVESWYRSKCEEMK
20:60485508-60485508 G>A	0.0	3466	MELANOMA	-	-	-	-	CDH4	ENST00000543233,p.E333K|uc002ybn.2,p.E407K|ENST00000360469,p.E407K|uc002ybp.2,p.E333K|NM_001794,p.E407K|NM_001252339,p.E333K|NM_001252338,p.E370K|uc002ybr.2,p.E370K	protein_coding	uc002ybr.2	nonsynonymous SNV	exon8	c.G1108A	p.E370K	STFAGEVPENRVETVVANLTVMDRD	STFAGEVPENRVKTVVANLTVMDRD	4.0	6.0	unscreened	-	3466_20:60485508-60485508 G>A_STFAGEVPENRVKTVVANLTVMDRD
7:37890311-37890311 G>A	0.0	3466	MELANOMA	-	-	ID=COSM139700;OCCURENCE=1(skin)	-	NME8	NM_016616,p.E58K|ENST00000440017,p.E58K|uc003tfn.3,p.E58K|ENST00000199447,p.E58K	retained_intron, protein_coding, nonsense_mediated_decay	uc003tfn.3	nonsynonymous SNV	exon5	c.G172A	p.E58K	QPLFRKLKNELNEDEILHFAVAEAD	QPLFRKLKNELNKDEILHFAVAEAD	1.0	8.0	unscreened	-	3466_7:37890311-37890311 G>A_QPLFRKLKNELNKDEILHFAVAEAD
8:144789949-144789949 C>T	0.0	3466	MELANOMA	-	-	-	-	CCDC166	NM_001162914,p.E111K|ENST00000542437,p.E111K|uc011lkr.2,p.E111K	protein_coding	uc011lkr.2	nonsynonymous SNV	exon1	c.G331A	p.E111K	RVDLAQIHWQRAELASLYHGREDGV	RVDLAQIHWQRAKLASLYHGREDGV	1.0	8.0	-	-	3466_8:144789949-144789949 C>T_RVDLAQIHWQRAKLASLYHGREDGV
2:155711557-155711557 C>T	0.0	3466	MELANOMA	-	-	-	-	KCNJ3	ENST00000295101,p.P413L|NM_002239,p.P413L|uc002tyv.2,p.P413L	protein_coding, processed_transcript	uc002tyv.2	nonsynonymous SNV	exon3	c.C1238T	p.P413L	SKLQKITGREDFPKKLLRMSSTTSE	SKLQKITGREDFLKKLLRMSSTTSE	1.0	1.0	unscreened	-	3466_2:155711557-155711557 C>T_SKLQKITGREDFLKKLLRMSSTTSE
19:45296767-45296767 G>A	0.0	3466	MELANOMA	0.01	-	-	1	CBLC	NM_012116,p.E392K|ENST00000341505,p.E346K|uc002ozs.3,p.E392K|NM_001130852,p.E346K|uc010ejt.3,p.E346K|ENST00000270279,p.E392K	protein_coding	uc010ejt.3	nonsynonymous SNV	exon7	c.G1036A	p.E346K	HSDSQTCPFCRCEIKGWEAVSIYQF	HSDSQTCPFCRCKIKGWEAVSIYQF	1.0	1.0	unscreened	-	3466_19:45296767-45296767 G>A_HSDSQTCPFCRCKIKGWEAVSIYQF
1:62740318-62740318 C>T	0.0	3466	MELANOMA	-	-	-	-	KANK4	NM_181712,p.G153E|uc001dah.4,p.G153E|ENST00000371153,p.G153E	protein_coding	uc001dah.4	nonsynonymous SNV	exon3	c.G458A	p.G153E	EAAEPEDAELTFGSGRPQLLRASSM	EAAEPEDAELTFESGRPQLLRASSM	2.0	3.0	unscreened	-	3466_1:62740318-62740318 C>T_EAAEPEDAELTFESGRPQLLRASSM
11:58170078-58170078 C>T	0.0	3466	MELANOMA	-	-	-	-	OR5B3	uc010rkf.2,p.D269N|ENST00000309403,p.D269N|NM_001005469,p.D269N	protein_coding	uc010rkf.2	nonsynonymous SNV	exon1	c.G805A	p.D269N	YLQPSSSHSMDTDKMAPVFYTMVIP	YLQPSSSHSMDTNKMAPVFYTMVIP	1.0	4.0	unscreened	-	3466_11:58170078-58170078 C>T_YLQPSSSHSMDTNKMAPVFYTMVIP
1:196952084-196952084 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1689495,COSM1689494;OCCURENCE=1(skin)	-	CFHR5	NM_030787,p.S43F|uc001gts.4,p.S43F|ENST00000256785,p.S43F|ENST00000367414,p.S67F	protein_coding	uc001gts.4	nonsynonymous SNV	exon2	c.C128T	p.S43F	GFLYDEEDYNPFSQVPTGEVFYYSC	GFLYDEEDYNPFFQVPTGEVFYYSC	1.0	8.0	unscreened	-	3466_1:196952084-196952084 C>T_GFLYDEEDYNPFFQVPTGEVFYYSC
19:9086032-9086032 C>T	0.0	3466	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.G1928E|ENST00000397910,p.G1928E|NM_024690,p.G1928E	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.G5783A	p.G1928E	APGAETTLTSTPGNRAISLTLPFSS	APGAETTLTSTPENRAISLTLPFSS	1.0	2.0	unscreened	-	3466_19:9086032-9086032 C>T_APGAETTLTSTPENRAISLTLPFSS
10:112541377-112541377 C>T	0.0	3466	MELANOMA	-	-	-	-	RBM20	NM_001134363,p.P337L|ENST00000369519,p.P337L|uc001kzf.2,p.P337L	retained_intron, protein_coding, processed_transcript	uc001kzf.2	nonsynonymous SNV	exon2	c.C1010T	p.P337L	FSGQSKPDLTAGPMWPPPHNQPYEL	FSGQSKPDLTAGLMWPPPHNQPYEL	3.0	2.0	unscreened	-	3466_10:112541377-112541377 C>T_FSGQSKPDLTAGLMWPPPHNQPYEL
9:96051579-96051579 C>T	0.0	3466	MELANOMA	-	-	-	2	WNK2	uc004atk.3,p.P1152S|uc011lud.1,p.P1515S|NM_006648,p.P1515S|ENST00000395477,p.P1515S|uc004atj.3,p.P1515S|ENST00000349097,p.P1164S|NM_001282394,p.P1552S|ENST00000427277,p.P1127S|uc004atl.1,p.P110S|uc004ati.1,p.P1552S|ENST00000297954,p.P1552S	retained_intron, protein_coding, processed_transcript	uc011lud.1	nonsynonymous SNV	exon19	c.C4543T	p.P1515S	AVGAVSLATSQLPSPPLGPTVPPQP	AVGAVSLATSQLSSPPLGPTVPPQP	1.0	9.0	unscreened	-	3466_9:96051579-96051579 C>T_AVGAVSLATSQLSSPPLGPTVPPQP
1:55166012-55166012 G>A	0.0	3466	MELANOMA	-	-	-	-	MROH7	ENST00000414150,p.V995M|NM_001291332,p.V513M|uc010ood.1,p.V513M|ENST00000409996,p.V563M|ENST00000454855,p.V513M|uc010ooe.1,p.V995M|NM_001039464,p.V995M|uc009vzr.1,p.V197M|ENST00000421030,p.V995M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ooe.1	nonsynonymous SNV	exon18	c.G2983A	p.V995M	TAFFVELLQMEQVRRIPEEYSLGRM	TAFFVELLQMEQMRRIPEEYSLGRM	3.0	3.0	unscreened	-	3466_1:55166012-55166012 G>A_TAFFVELLQMEQMRRIPEEYSLGRM
6:55625290-55625290 C>T	0.0	3466	MELANOMA	-	-	-	2	BMP5	ENST00000446683,p.E357K|uc011dxf.2,p.E357K	protein_coding	uc011dxf.2	nonsynonymous SNV	exon5	c.G1069A	p.E357K	NTSEQKQACKKHELYVSFRDLGWQV	NTSEQKQACKKHKLYVSFRDLGWQV	2.0	9.0	unscreened	-	3466_6:55625290-55625290 C>T_NTSEQKQACKKHKLYVSFRDLGWQV
16:81960727-81960727 C>T	0.0	3466	MELANOMA	-	-	-	-	PLCG2	uc002fgt.3,p.P820S|ENST00000359376,p.P820S|NM_002661,p.P820S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002fgt.3	nonsynonymous SNV	exon23	c.C2458T	p.P820S	KGDYGTRIQQYFPSNYVEDISTADF	KGDYGTRIQQYFSSNYVEDISTADF	5.0	3.0	unscreened	-	3466_16:81960727-81960727 C>T_KGDYGTRIQQYFSSNYVEDISTADF
7:113559041-113559041 G>A	0.0	3466	MELANOMA	-	-	-	-	PPP1R3A	ENST00000284602,p.S4F|uc010ljy.1,p.S4F|NM_002711,p.S4F|ENST00000284601,p.S4F	protein_coding, nonsense_mediated_decay	uc010ljy.1	nonsynonymous SNV	exon1	c.C11T	p.S4F	MEPSEVPSQISKDNFL	MEPFEVPSQISKDNFL	1.0	8.0	unscreened	-	3466_7:113559041-113559041 G>A_MEPFEVPSQISKDNFL
10:20500603-20500603 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1675090;OCCURENCE=1(large_intestine)	-	PLXDC2	NM_001282736,p.S307F|uc001iqh.1,p.S307F|NM_032812,p.S356F|ENST00000377242,p.S307F|ENST00000377252,p.S356F|uc001iqg.1,p.S356F	protein_coding	uc001iqh.1	nonsynonymous SNV	exon9	c.C920T	p.S307F	FNCSWCSKLQRCSSGFDRHRQDWVD	FNCSWCSKLQRCFSGFDRHRQDWVD	8.0	2.0	unscreened	-	3466_10:20500603-20500603 C>T_FNCSWCSKLQRCFSGFDRHRQDWVD
12:129399478-129399478 G>A	0.0	3466	MELANOMA	-	-	-	-	GLT1D1	ENST00000539044,p.E121K|ENST00000441390,p.E121K	protein_coding, nonsense_mediated_decay	ENST00000539044	nonsynonymous SNV	exon5	c.G361A	p.E121K	RMLRVRSMSRVKELQQHQTPLLTGI	RMLRVRSMSRVKKLQQHQTPLLTGI	1.0	9.0	unscreened	-	3466_12:129399478-129399478 G>A_RMLRVRSMSRVKKLQQHQTPLLTGI
5:161309701-161309701 A>G	0.0	3466	MELANOMA	-	-	-	-	GABRA1	NM_000806,p.S233G|NM_001127644,p.S233G|ENST00000444819,p.S233G|ENST00000437025,p.S233G|ENST00000428797,p.S233G|uc010jjb.3,p.S233G|NM_001127648,p.S233G|ENST00000023897,p.S233G|NM_001127643,p.S233G|uc010jiw.3,p.S233G|NM_001127645,p.S233G|uc010jiy.3,p.S233G|ENST00000420560,p.S233G|uc003lyx.4,p.S233G|uc010jix.3,p.S233G|ENST00000393943,p.S233G	retained_intron, protein_coding	uc010jjb.3	nonsynonymous SNV	exon6	c.A697G	p.S233G	LGQTVDSGIVQSSTGEYVVMTTHFH	LGQTVDSGIVQSGTGEYVVMTTHFH	1.0	9.0	unscreened	-	3466_5:161309701-161309701 A>G_LGQTVDSGIVQSGTGEYVVMTTHFH
16:4787940-4787940 T>G	1.0	3466	MELANOMA	-	-	-	-	C16orf71	ENST00000590191,p.L90R	retained_intron, protein_coding	ENST00000590191	nonsynonymous SNV	exon3	c.T269G	p.L90R	KSRAWVAAAEESLPEVCGTQKSIRL	KSRAWVAAAEESRPEVCGTQKSIRL	3.0	2.0	unscreened	-	3466_16:4787940-4787940 T>G_KSRAWVAAAEESRPEVCGTQKSIRL
16:68009871-68009871 C>T	0.0	3466	MELANOMA	-	-	-	-	DPEP3	ENST00000268793,p.E447K|NM_022357,p.E447K|NM_001129758,p.E446K|uc002evc.4,p.E447K|uc010cex.3,p.E446K	protein_coding, processed_transcript	uc010cex.3	nonsynonymous SNV	exon10	c.G1336A	p.E446K	KVREESRAQSPVEAEFPYGQLSTSC	KVREESRAQSPVKAEFPYGQLSTSC	1.0	2.0	unscreened	-	3466_16:68009871-68009871 C>T_KVREESRAQSPVKAEFPYGQLSTSC
17:19319324-19319324 G>A	0.0	3466	MELANOMA	-	-	-	-	RNF112	ENST00000461366,p.E578K|uc010vyw.2,p.E578K|NM_007148,p.E578K	retained_intron, protein_coding, processed_transcript	uc010vyw.2	nonsynonymous SNV	exon14	c.G1732A	p.E578K	VGAGMAAAALAAEAGMVAAGAAVGA	VGAGMAAAALAAKAGMVAAGAAVGA	1.0	9.0	unscreened	-	3466_17:19319324-19319324 G>A_VGAGMAAAALAAKAGMVAAGAAVGA
15:94841928-94841928 C>T	0.0	3466	MELANOMA	-	-	-	-	MCTP2	uc010bok.3,p.S145F|ENST00000456504,p.S145F|ENST00000357742,p.S145F|ENST00000451018,p.S145F|uc002bti.2,p.S145F|uc010urg.1,p.S145F|uc002bth.4,p.S145F|uc002btg.4,p.S145F|ENST00000543482,p.S145F|NM_001159643,p.S145F|NM_018349,p.S145F|uc002btj.3,p.S145F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010urg.1	nonsynonymous SNV	exon2	c.C434T	p.S145F	VSSNGIFDLQKTSLGGDAPEEPEKL	VSSNGIFDLQKTFLGGDAPEEPEKL	5.0	7.0	unscreened	-	3466_15:94841928-94841928 C>T_VSSNGIFDLQKTFLGGDAPEEPEKL
14:21794020-21794020 G>A	0.0	3466	MELANOMA	-	-	-	-	RPGRIP1	uc001wag.3,p.E800K|uc001wak.3,p.E275K|ENST00000400017,p.E800K|ENST00000307974,p.E159K|uc010aim.3,p.E183K|ENST00000206660,p.E800K|uc001wam.3,p.E117K|uc001wah.3,p.E442K|ENST00000555587,p.E275K|uc001wal.3,p.E159K|ENST00000557771,p.E762K|NM_020366,p.E800K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010aim.3	nonsynonymous SNV	exon5	c.G547A	p.E183K	EEFRSESWEPQNELWIEITKCCGLR	EEFRSESWEPQNKLWIEITKCCGLR	1.0	5.0	unscreened	-	3466_14:21794020-21794020 G>A_EEFRSESWEPQNKLWIEITKCCGLR
14:99724117-99724117 C>T	0.0	3466	MELANOMA	-	-	-	1	BCL11B	uc001yga.3,p.E40K|NM_001282237,p.E39K|NM_022898,p.E40K|NM_001282238,p.E39K|ENST00000345514,p.E40K|NM_138576,p.E40K|uc031qqh.1,p.E39K|uc001ygb.3,p.E40K|ENST00000357195,p.E40K|uc031qqi.1,p.E39K	protein_coding	uc031qqi.1	nonsynonymous SNV	exon2	c.G115A	p.E39K	AILEEDEGLEIEEPSGLGLMVGGPD	AILEEDEGLEIEKPSGLGLMVGGPD	3.0	9.0	unscreened	-	3466_14:99724117-99724117 C>T_AILEEDEGLEIEKPSGLGLMVGGPD
4:69097038-69097038 C>T	0.0	3466	MELANOMA	-	-	-	-	TMPRSS11B	NM_182502,p.S190N|uc003hdw.4,p.S190N|ENST00000332644,p.S190N	retained_intron, protein_coding	uc003hdw.4	nonsynonymous SNV	exon7	c.G569A	p.S190N	SIITGNKIVNGKSSLEGAWPWQASM	SIITGNKIVNGKNSLEGAWPWQASM	1.0	1.0	unscreened	-	3466_4:69097038-69097038 C>T_SIITGNKIVNGKNSLEGAWPWQASM
7:30721924-30721924 G>A	0.0	3466	MELANOMA	-	-	-	-	CRHR2	uc010kwa.1,p.S70F|ENST00000445981,p.S70F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010kwa.1	nonsynonymous SNV	exon3	c.C209T	p.S70F	TNLSVTPGAHSHSLSARGCGTRWTR	TNLSVTPGAHSHFLSARGCGTRWTR	1.0	1.0	unscreened	-	3466_7:30721924-30721924 G>A_TNLSVTPGAHSHFLSARGCGTRWTR
3:38793981-38793981 C>T	0.0	3466	MELANOMA	-	-	-	-	SCN10A	uc003ciq.3,p.G495E|ENST00000449082,p.G495E|NM_001293306,p.G495E|NM_006514,p.G495E	protein_coding	uc003ciq.3	nonsynonymous SNV	exon11	c.G1484A	p.G495E	NQRRMSFLGLASGKRRASHGSVFHF	NQRRMSFLGLASEKRRASHGSVFHF	1.0	3.0	unscreened	-	3466_3:38793981-38793981 C>T_NQRRMSFLGLASEKRRASHGSVFHF
5:13794139-13794139 C>T	0.0	3466	MELANOMA	-	-	ID=COSM107111;OCCURENCE=1(skin)	-	DNAH5	ENST00000265104,p.R2639Q|uc003jfd.2,p.R2639Q|NM_001369,p.R2639Q	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon48	c.G7916A	p.R2639Q	MFQRTIESYVDKRMGTTYGPPAGKK	MFQRTIESYVDKQMGTTYGPPAGKK	1.0	1.0	unscreened	-	3466_5:13794139-13794139 C>T_MFQRTIESYVDKQMGTTYGPPAGKK
3:195497163-195497163 C>T	0.0	3466	MELANOMA	-	-	-	2	MUC4	ENST00000477756,p.G4441E|uc003fvo.3,p.G205E|uc021xjk.1,p.G182E|uc021xjp.1,p.G4441E|ENST00000478156,p.G4441E|NM_018406,p.G4441E|NM_004532,p.G205E|ENST00000463781,p.G4441E|uc003fvp.3,p.G154E|ENST00000349607,p.G154E|ENST00000346145,p.G205E|NM_138297,p.G154E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon6	c.G13322A	p.G4441E	QAESWIRKITNNGGYKARWALKVTW	QAESWIRKITNNEGYKARWALKVTW	1.0	2.0	unscreened	Snp within 36 nucleotides, 3:195497174-1954971674 C>G, residue 9 G>I PR	3466_3:195497163-195497163 C>T_QAESWIRKITNNEGYKARWALKVTW
19:4552588-4552588 C>T	1.0	3466	MELANOMA	-	-	-	-	SEMA6B	NM_032108,p.E279K|ENST00000301293,p.E279K|uc010dud.2,p.E279K|uc010xih.1,p.E279K|ENST00000586582,p.E279K|ENST00000586965,p.E279K	retained_intron, protein_coding	uc010xih.1	nonsynonymous SNV	exon10	c.G835A	p.E279K	CKNDVGGSPRVLEKQWTSFLKARLN	CKNDVGGSPRVLKKQWTSFLKARLN	5.0	3.0	unscreened	-	3466_19:4552588-4552588 C>T_CKNDVGGSPRVLKKQWTSFLKARLN
12:49438054-49438054 G>A	1.0	3466	MELANOMA	-	-	-	1	KMT2D	NM_003482,p.S1706F|uc001rta.4,p.S1706F|ENST00000301067,p.S1706F	retained_intron, protein_coding, processed_transcript	uc001rta.4	nonsynonymous SNV	exon21	c.C5117T	p.S1706F	PGIGGFMVRQRKSHTRTKKGPAAQA	PGIGGFMVRQRKFHTRTKKGPAAQA	8.0	9.0	unscreened	-	3466_12:49438054-49438054 G>A_PGIGGFMVRQRKFHTRTKKGPAAQA
18:580773-580773 C>T	0.0	3466	MELANOMA	-	-	ID=COSM989368;OCCURENCE=1(endometrium)	-	CETN1	ENST00000327228,p.S122L|uc002kko.1,p.S122L|NM_004066,p.S122L	protein_coding	uc002kko.1	nonsynonymous SNV	exon1	c.C365T	p.S122L	FRLFDDDETGKISFKNLKRVANELG	FRLFDDDETGKILFKNLKRVANELG	1.0	4.0	unscreened	-	3466_18:580773-580773 C>T_FRLFDDDETGKILFKNLKRVANELG
7:83029548-83029548 C>T	0.0	3466	MELANOMA	-	-	-	-	SEMA3E	ENST00000427262,p.G328R|NM_001178129,p.G328R|ENST00000307792,p.G388R|uc022agy.1,p.G328R|uc003uhy.2,p.G388R|NM_012431,p.G388R	protein_coding, nonsense_mediated_decay	uc022agy.1	nonsynonymous SNV	exon11	c.G982A	p.G328R	YPRPGSCASKVNGGRYGTTKDYPDD	YPRPGSCASKVNRGRYGTTKDYPDD	4.0	1.0	unscreened	-	3466_7:83029548-83029548 C>T_YPRPGSCASKVNRGRYGTTKDYPDD
4:77661911-77661911 C>T	0.0	3466	MELANOMA	-	-	-	-	SHROOM3	uc003hkg.3,p.P640L|uc011cbz.1,p.P686L|uc011cbx.2,p.P862L|ENST00000296043,p.P862L|NM_020859,p.P862L|uc003hkf.1,p.P737L	retained_intron, protein_coding, processed_transcript	uc011cbz.1	nonsynonymous SNV	exon4	c.C2057T	p.P686L	NGELKLEEASRQPCGQQLSGGASDS	NGELKLEEASRQLCGQQLSGGASDS	1.0	5.0	unscreened	-	3466_4:77661911-77661911 C>T_NGELKLEEASRQLCGQQLSGGASDS
4:164271851-164271851 G>A	0.0	3466	MELANOMA	-	-	-	-	NPY5R	NM_006174,p.M142I|ENST00000515560,p.M142I|uc003iqn.3,p.M142I|ENST00000338566,p.M142I|uc021xtw.1,p.M142I|ENST00000506953,p.M142I	protein_coding	uc021xtw.1	nonsynonymous SNV	exon1	c.G426A	p.M142I	LILISIAIVRYHMIKHPISNNLTAN	LILISIAIVRYHIIKHPISNNLTAN	1.0	4.0	unscreened	-	3466_4:164271851-164271851 G>A_LILISIAIVRYHIIKHPISNNLTAN
10:6061853-6061853 G>A	0.0	3466	MELANOMA	-	-	-	-	IL2RA	ENST00000256876,p.S203F|NM_000417,p.S212F|uc009xih.2,p.S140F|uc001iiz.2,p.S212F|ENST00000379959,p.S212F|ENST00000379954,p.S140F	protein_coding, processed_transcript	uc009xih.2	nonsynonymous SNV	exon4	c.C419T	p.S140F	QASPEGRPESETSCLVTTTDFQIQT	QASPEGRPESETFCLVTTTDFQIQT	4.0	7.0	unscreened	-	3466_10:6061853-6061853 G>A_QASPEGRPESETFCLVTTTDFQIQT
18:14779991-14779991 G>A	0.0	3466	MELANOMA	-	-	-	-	ANKRD30B	ENST00000447268,p.E485K|uc021uhy.1,p.E485K|uc010dlo.2,p.E485K|ENST00000358984,p.E485K|ENST00000580206,p.E485K|NM_001145029,p.E485K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021uhy.1	nonsynonymous SNV	exon11	c.G1453A	p.E485K	EDQMLPSESKREEDEEYSWDSGSLF	EDQMLPSESKREKDEEYSWDSGSLF	1.0	4.0	unscreened	Snp within 36 nucleotides, 18:14779969-14779969 C>G, residue 5 F>L PR	3466_18:14779991-14779991 G>A_EDQMLPSESKREKDEEYSWDSGSLF
1:117559838-117559838 G>A	0.0	3466	MELANOMA	0.0005	-	-	-	CD101	NM_004258,p.R452Q|NM_001256111,p.R390Q|ENST00000369470,p.R452Q|ENST00000256652,p.R452Q|uc010oxb.2,p.R452Q|uc010oxc.2,p.R452Q|NM_001256109,p.R452Q|NM_001256106,p.R452Q|uc010oxd.2,p.R390Q|uc009whd.4,p.R452Q	protein_coding, processed_transcript	uc010oxd.2	nonsynonymous SNV	exon5	c.G1169A	p.R390Q	ESPLSVSWWHIPRDQTQPEFVAGMG	ESPLSVSWWHIPQDQTQPEFVAGMG	1.0	1.0	unscreened	-	3466_1:117559838-117559838 G>A_ESPLSVSWWHIPQDQTQPEFVAGMG
10:19636879-19636879 C>T	0.0	3466	MELANOMA	-	-	-	-	MALRD1	NM_001142308,p.P1361S|ENST00000377266,p.P670S|ENST00000454679,p.P657S	protein_coding, processed_transcript	NM_001142308	nonsynonymous SNV	exon25	c.C4081T	p.P1361S	SSGHYIFINSLFPQQPMRAARISSP	SSGHYIFINSLFSQQPMRAARISSP	1.0	2.0	unscreened	Snp within 36 nucleotides, 10:19636869-19636869 G>T, residue 9 K>N PR	3466_10:19636879-19636879 C>T_SSGHYIFINSLFSQQPMRAARISSP
1:57157104-57157104 G>A	0.0	3466	MELANOMA	-	-	-	-	PRKAA2	ENST00000371244,p.V92I|uc001cyk.4,p.V92I|NM_006252,p.V92I	protein_coding	uc001cyk.4	nonsynonymous SNV	exon3	c.G274A	p.V92I	YQVISTPTDFFMVMEYVSGGELFDY	YQVISTPTDFFMIMEYVSGGELFDY	2.0	2.0	unscreened	-	3466_1:57157104-57157104 G>A_YQVISTPTDFFMIMEYVSGGELFDY
11:55703813-55703813 G>A	0.0	3466	MELANOMA	-	-	-	-	OR5I1	ENST00000301532,p.R22C|NM_006637,p.R22C|uc010ris.2,p.R22C	protein_coding	uc010ris.2	nonsynonymous SNV	exon1	c.C64T	p.R22C	LVTEFILLGFPTRPELQIVLFLMFL	LVTEFILLGFPTCPELQIVLFLMFL	1.0	5.0	unscreened	-	3466_11:55703813-55703813 G>A_LVTEFILLGFPTCPELQIVLFLMFL
3:121305164-121305164 C>T	0.0	3466	MELANOMA	-	-	-	-	ARGFX	uc003eef.3,p.S222F|ENST00000334384,p.S222F|NM_001012659,p.S222F	protein_coding	uc003eef.3	nonsynonymous SNV	exon5	c.C665T	p.S222F	WERLVASVPALYSDAYDIFQIIELY	WERLVASVPALYFDAYDIFQIIELY	1.0	4.0	unscreened	-	3466_3:121305164-121305164 C>T_WERLVASVPALYFDAYDIFQIIELY
11:116692155-116692155 C>T	0.0	3466	MELANOMA	0.0005	-	-	-	APOA4	NM_000482,p.E207K|ENST00000357780,p.E207K|uc001pps.1,p.E207K	protein_coding	uc001pps.1	nonsynonymous SNV	exon3	c.G619A	p.E207K	EELKGRLTPYADEFKVKIDQTVEEL	EELKGRLTPYADKFKVKIDQTVEEL	1.0	5.0	unscreened	-	3466_11:116692155-116692155 C>T_EELKGRLTPYADKFKVKIDQTVEEL
2:201507438-201507438 C>T	1.0	3466	MELANOMA	-	-	-	-	AOX1	uc010fsu.3,p.R287C|uc010zhf.2,p.R477C|ENST00000374700,p.R921C|NM_001159,p.R921C|uc002uvx.3,p.R921C	retained_intron, protein_coding, processed_transcript	uc010zhf.2	nonsynonymous SNV	exon13	c.C1429T	p.R477C	ACRTNLPSNTAFRGFGFPQAALITE	ACRTNLPSNTAFCGFGFPQAALITE	3.0	2.0	-	-	3466_2:201507438-201507438 C>T_ACRTNLPSNTAFCGFGFPQAALITE
15:53907744-53907744 C>T	0.0	3466	MELANOMA	-	-	-	-	WDR72	uc010bfi.1,p.G887R|ENST00000557913,p.G884R|ENST00000396328,p.G887R|ENST00000360509,p.G887R|ENST00000559418,p.G897R|uc031qse.1,p.G887R|NM_182758,p.G887R|uc002acj.2,p.G887R	protein_coding, processed_transcript	uc031qse.1	nonsynonymous SNV	exon15	c.G2659A	p.G887R	TATLPNQVGIPRGLENNCDSLRESD	TATLPNQVGIPRRLENNCDSLRESD	3.0	2.0	unscreened	-	3466_15:53907744-53907744 C>T_TATLPNQVGIPRRLENNCDSLRESD
12:102020665-102020665 C>T	0.0	3466	MELANOMA	-	-	-	-	MYBPC1	ENST00000392934,p.S14F|NM_001254723,p.S14F|uc010svq.2,p.S14F	retained_intron, protein_coding, processed_transcript	uc010svq.2	nonsynonymous SNV	exon2	c.C41T	p.S14F	PEPTKKEDEEEVSPPSALPPDWTLV	PEPTKKEDEEEVFPPSALPPDWTLV	4.0	9.0	unscreened	-	3466_12:102020665-102020665 C>T_PEPTKKEDEEEVFPPSALPPDWTLV
11:5776307-5776307 G>A	0.0	3466	MELANOMA	-	-	-	-	OR52N4	uc001mbu.3,p.E113K	protein_coding	uc001mbu.3	nonsynonymous SNV	exon1	c.G337A	p.E113K	VQMFFIHTFTGMESGVLMLMALDRY	VQMFFIHTFTGMKSGVLMLMALDRY	1.0	3.0	unscreened	-	3466_11:5776307-5776307 G>A_VQMFFIHTFTGMKSGVLMLMALDRY
11:4608584-4608584 G>A	0.0	3466	MELANOMA	-	-	-	-	OR52I2	NM_001005170,p.R181K|ENST00000312614,p.R181K|uc010qyh.2,p.R181K	protein_coding	uc010qyh.2	nonsynonymous SNV	exon1	c.G542A	p.R181K	QVMLGMSMAITIRAIIAITPLSWMV	QVMLGMSMAITIKAIIAITPLSWMV	1.0	6.0	unscreened	-	3466_11:4608584-4608584 G>A_QVMLGMSMAITIKAIIAITPLSWMV
7:143098605-143098605 G>A	0.0	3466	MELANOMA	0.0005	-	-	-	EPHA1	ENST00000275815,p.R82C|NM_005232,p.R82C|uc003wcz.3,p.R82C	retained_intron, protein_coding, processed_transcript	uc003wcz.3	nonsynonymous SNV	exon3	c.C244T	p.R82C	PMQGRRDTDHWLRSNWIYRGEEASR	PMQGRRDTDHWLCSNWIYRGEEASR	2.0	9.0	unscreened	-	3466_7:143098605-143098605 G>A_PMQGRRDTDHWLCSNWIYRGEEASR
1:237982372-237982372 G>A	0.0	3466	MELANOMA	-	-	-	-	RYR2	NM_001035,p.G4824R|uc010pyb.1,p.G257R|ENST00000542537,p.G4808R|ENST00000360064,p.G4830R|uc001hyl.1,p.G4824R|ENST00000366574,p.G4824R	protein_coding, processed_transcript	uc010pyb.1	nonsynonymous SNV	exon9	c.G769A	p.G257R	CYMFHMYVGVRAGGGIGDEIEDPAG	CYMFHMYVGVRARGGIGDEIEDPAG	2.0	1.0	unscreened	-	3466_1:237982372-237982372 G>A_CYMFHMYVGVRARGGIGDEIEDPAG
16:90000153-90000153 A>T	0.0	3466	MELANOMA	-	-	-	-	TUBB3	ENST00000553967,p.R148S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000553967	nonsynonymous SNV	exon3	c.A444T	p.R148S	ISPFYSWALEAQRKGSVGRTETTHA	ISPFYSWALEAQSKGSVGRTETTHA	9.0	1.0	unscreened	-	3466_16:90000153-90000153 A>T_ISPFYSWALEAQSKGSVGRTETTHA
7:111381678-111381678 G>A	0.0	3466	MELANOMA	-	-	-	-	DOCK4	uc003vfx.3,p.P1604S|uc011kmm.2,p.P511S|ENST00000428084,p.P1613S|ENST00000437633,p.P1604S|uc003vfw.3,p.P1054S|uc011kml.2,p.P485S|NM_014705,p.P1604S|ENST00000494651,p.P487S|uc003vfy.3,p.P1649S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kmm.2	nonsynonymous SNV	exon15	c.C1531T	p.P511S	FSACMQASPVHFPNGSPRVCRNSAP	FSACMQASPVHFSNGSPRVCRNSAP	7.0	8.0	unscreened	-	3466_7:111381678-111381678 G>A_FSACMQASPVHFSNGSPRVCRNSAP
20:13029636-13029636 C>T	0.0	3466	MELANOMA	-	-	-	-	SPTLC3	ENST00000399002,p.S54L|uc002woc.3,p.S54L|uc002wod.1,p.S54L|ENST00000434210,p.S54L|ENST00000378194,p.S54L|ENST00000450297,p.S27L|NM_018327,p.S54L	protein_coding, processed_transcript	uc002wod.1	nonsynonymous SNV	exon2	c.C161T	p.S54L	GKPHFYDKLIVESFEEAPLHVMVFT	GKPHFYDKLIVELFEEAPLHVMVFT	4.0	5.0	-	-	3466_20:13029636-13029636 C>T_GKPHFYDKLIVELFEEAPLHVMVFT
2:113956717-113956717 G>A	0.0	3466	MELANOMA	-	-	-	-	PSD4	uc002tjh.3,p.D130N|uc010yxs.2,p.D173N|uc002tjd.3,p.D563N|uc002tjc.3,p.D943N|NM_012455,p.D943N|uc002tjf.3,p.D564N|uc002tje.3,p.D913N|uc002tjg.3,p.D109N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yxs.2	nonsynonymous SNV	exon4	c.G517A	p.D173N	ENCLDAAADDLLDLQRNLPERRGRG	ENCLDAAADDLLNLQRNLPERRGRG	5.0	3.0	unscreened	-	3466_2:113956717-113956717 G>A_ENCLDAAADDLLNLQRNLPERRGRG
X:99657721-99657721 G>A	0.0	3466	MELANOMA	-	-	-	-	PCDH19	NM_020766,p.S759F|NM_001105243,p.S759F|ENST00000420881,p.S759F|uc004efx.4,p.S759F|uc010nmz.3,p.S806F|ENST00000373034,p.S806F|uc004efw.4,p.S759F|NM_001184880,p.S806F|ENST00000255531,p.S759F	protein_coding, processed_transcript	uc010nmz.3	nonsynonymous SNV	exon3	c.C2417T	p.S806F	EETDKMNVVSCSSLTSSLNYFDYHQ	EETDKMNVVSCSFLTSSLNYFDYHQ	1.0	9.0	unscreened	-	3466_X:99657721-99657721 G>A_EETDKMNVVSCSFLTSSLNYFDYHQ
12:52283252-52283252 C>T	0.0	3466	MELANOMA	-	-	-	-	ANKRD33	uc001rzi.4,p.A73V|ENST00000340970,p.A73V|uc001rze.3,p.A73V|NM_001130015,p.A73V|uc001rzf.4,p.A73V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rzi.4	nonsynonymous SNV	exon3	c.C218T	p.A73V	RDQRGLTALMKAAMRNRCECVATLL	RDQRGLTALMKAVMRNRCECVATLL	1.0	9.0	unscreened	-	3466_12:52283252-52283252 C>T_RDQRGLTALMKAVMRNRCECVATLL
7:139724560-139724560 G>A	1.0	3466	MELANOMA	-	-	-	-	PARP12	NM_022750,p.R636C|uc003vvl.1,p.R636C|ENST00000263549,p.R636C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vvl.1	nonsynonymous SNV	exon12	c.C1906T	p.R636C	VGEFVRGNASFVRPPAKEGWSNAFY	VGEFVRGNASFVCPPAKEGWSNAFY	9.0	9.0	unscreened	-	3466_7:139724560-139724560 G>A_VGEFVRGNASFVCPPAKEGWSNAFY
19:1278944-1278944 C>T	1.0	3466	MELANOMA	-	-	-	-	C19orf24	uc002lrx.5,p.R58C	retained_intron, protein_coding, processed_transcript	uc002lrx.5	nonsynonymous SNV	exon3	c.C172T	p.R58C	ANPRAPFGTCTARRPVATCTHRWTM	ANPRAPFGTCTACRPVATCTHRWTM	3.0	2.0	unscreened	-	3466_19:1278944-1278944 C>T_ANPRAPFGTCTACRPVATCTHRWTM
12:70946612-70946612 C>T	1.0	3466	MELANOMA	-	-	-	1	PTPRB	ENST00000451516,p.D1470N|uc001swa.4,p.D1690N|NM_001206971,p.D1470N|ENST00000261266,p.D1560N|ENST00000334414,p.D1778N|NM_001206972,p.D1470N|uc010stp.2,p.D1470N|NM_002837,p.D1560N|NM_001109754,p.D1778N|ENST00000538708,p.D1470N|ENST00000550857,p.D1470N|uc001swb.4,p.D1560N|uc010sto.2,p.D1470N|uc001swc.4,p.D1778N|ENST00000550358,p.D1690N	retained_intron, protein_coding, processed_transcript	uc010stp.2	nonsynonymous SNV	exon18	c.G4408A	p.D1470N	LGAEMESLGGKCDPTQQKFCDGPLK	LGAEMESLGGKCNPTQQKFCDGPLK	4.0	9.0	unscreened	-	3466_12:70946612-70946612 C>T_LGAEMESLGGKCNPTQQKFCDGPLK
2:179516393-179516393 C>T	0.0	3466	MELANOMA	-	-	-	-	TTN	ENST00000589042,p.V13155M|uc021vsy.2,p.V10721M|uc031rqc.1,p.V13155M|ENST00000591111,p.V11648M|NM_001256850,p.V11648M|NM_133378,p.V10721M|ENST00000342992,p.V10721M|uc031rqd.1,p.V11648M|NM_001267550,p.V13155M	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon161	c.G34942A	p.V11648M	VVAKKPELPPVKVPEVPKEVVPEKK	VVAKKPELPPVKMPEVPKEVVPEKK	5.0	6.0	unscreened	-	3466_2:179516393-179516393 C>T_VVAKKPELPPVKMPEVPKEVVPEKK
8:69621287-69621287 C>T	0.0	3466	MELANOMA	-	-	-	-	C8orf34	ENST00000325233,p.P92S|ENST00000539993,p.P348S|uc003xyb.3,p.P323S|ENST00000518698,p.P434S|NM_052958,p.P434S|ENST00000337103,p.P323S|uc010lyz.3,p.P434S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lyz.3	nonsynonymous SNV	exon9	c.C1300T	p.P434S	ERTEESLPILHSPDEKIPDSFDSLP	ERTEESLPILHSSDEKIPDSFDSLP	1.0	9.0	unscreened	-	3466_8:69621287-69621287 C>T_ERTEESLPILHSSDEKIPDSFDSLP
2:189871144-189871144 G>A	0.0	3466	MELANOMA	-	-	-	2	COL3A1	uc002uqj.1,p.G1056D|NM_000090,p.G1056D|ENST00000304636,p.G1056D	retained_intron, protein_coding	uc002uqj.1	nonsynonymous SNV	exon43	c.G3167A	p.G1056D	GAPGHPGPPGPVGPAGKSGDRGESG	GAPGHPGPPGPVDPAGKSGDRGESG	10.0	1.0	unscreened	-	3466_2:189871144-189871144 G>A_GAPGHPGPPGPVDPAGKSGDRGESG
10:123970341-123970341 C>T	1.0	3466	MELANOMA	-	-	-	-	TACC2	uc001lga.3,p.S212F|NM_206861,p.S280F|ENST00000514539,p.S229F|NM_206862,p.S2134F|uc001lfv.3,p.S2134F|ENST00000358010,p.S280F|ENST00000260733,p.S212F|ENST00000334433,p.S2134F|ENST00000453444,p.S2138F|ENST00000369005,p.S2134F|uc009xzx.3,p.S2089F|uc010qtv.2,p.S2138F|NM_206860,p.S212F|NM_001291876,p.S2089F|uc001lfw.3,p.S280F|ENST00000515603,p.S2089F|ENST00000513429,p.S280F|NM_001291877,p.S2138F|NM_001291878,p.S212F|ENST00000369004,p.S212F|ENST00000360561,p.S212F|uc001lfz.3,p.S212F|ENST00000368999,p.S212F|uc009xzy.3,p.S212F|uc010qtw.1,p.S229F|ENST00000515273,p.S2138F|uc001lgb.3,p.S169F|NM_006997,p.S212F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qtw.1	nonsynonymous SNV	exon3	c.C686T	p.S229F	STLKRTKKPRPPSLKKKQTTKKPTE	STLKRTKKPRPPFLKKKQTTKKPTE	8.0	5.0	-	-	3466_10:123970341-123970341 C>T_STLKRTKKPRPPFLKKKQTTKKPTE
6:56035795-56035795 C>T	0.0	3466	MELANOMA	-	-	ID=COSM221726;OCCURENCE=1(skin)	-	COL21A1	uc011dxi.1,p.E258K|ENST00000244728,p.E258K|ENST00000535941,p.E258K|uc003pcu.1,p.E258K|uc003pcs.3,p.E258K|ENST00000370819,p.E258K|NM_030820,p.E258K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxi.1	nonsynonymous SNV	exon5	c.G772A	p.E258K	RIQLSPKKIKGYEVTSKVDLSELTS	RIQLSPKKIKGYKVTSKVDLSELTS	1.0	1.0	unscreened	-	3466_6:56035795-56035795 C>T_RIQLSPKKIKGYKVTSKVDLSELTS
1:247586644-247586644 G>A	0.0	3466	MELANOMA	-	-	-	-	NLRP3	NM_001243133,p.M130I|uc010pyw.2,p.M130I|ENST00000348069,p.M132I|uc001ict.1,p.M130I|uc001icr.3,p.M132I|ENST00000391827,p.M132I|uc001icu.3,p.M132I|NM_004895,p.M132I|uc001ics.3,p.M132I|NM_001079821,p.M132I|NM_001127462,p.M132I|ENST00000366497,p.M132I|ENST00000366496,p.M132I|ENST00000391828,p.M132I|NM_183395,p.M132I|uc001icw.3,p.M132I|ENST00000336119,p.M132I|NM_001127461,p.M132I|uc001icv.3,p.M132I	protein_coding, processed_transcript	uc010pyw.2	nonsynonymous SNV	exon2	c.G390A	p.M130I	LLEYLSRISICKMKKDYRKKYRKYV	LLEYLSRISICKIKKDYRKKYRKYV	4.0	8.0	unscreened	-	3466_1:247586644-247586644 G>A_LLEYLSRISICKIKKDYRKKYRKYV
4:155298406-155298406 C>T	0.0	3466	MELANOMA	-	-	-	-	DCHS2	NM_001142552,p.G748E|ENST00000339452,p.G748E|uc003inx.2,p.G748E	protein_coding, processed_transcript	uc003inx.2	nonsynonymous SNV	exon2	c.G2243A	p.G748E	PATYDLLVEAKDGGGLSAQAFVRVD	PATYDLLVEAKDEGGLSAQAFVRVD	1.0	2.0	unscreened	-	3466_4:155298406-155298406 C>T_PATYDLLVEAKDEGGLSAQAFVRVD
4:173804020-173804020 G>A	0.0	3466	MELANOMA	-	-	-	-	GALNTL6	ENST00000508122,p.E318K|uc003isv.3,p.E335K|NM_001034845,p.E335K|ENST00000506823,p.E335K	protein_coding, processed_transcript	uc003isv.3	nonsynonymous SNV	exon8	c.G1003A	p.E335K	WFWELGGYDPGLEIWGGEQYEISFK	WFWELGGYDPGLKIWGGEQYEISFK	1.0	3.0	unscreened	-	3466_4:173804020-173804020 G>A_WFWELGGYDPGLKIWGGEQYEISFK
7:143701765-143701765 T>A	0.0	3466	MELANOMA	-	-	-	-	OR6B1	uc003wdt.1,p.L226I|ENST00000408922,p.L226I|NM_001005281,p.L226I	protein_coding	uc003wdt.1	nonsynonymous SNV	exon1	c.T676A	p.L226I	TVLSYGCILATILCMPTGKQKAFST	TVLSYGCILATIICMPTGKQKAFST	1.0	9.0	unscreened	-	3466_7:143701765-143701765 T>A_TVLSYGCILATIICMPTGKQKAFST
22:27024373-27024373 C>T	0.0	3466	MELANOMA	-	-	-	-	CRYBA4	ENST00000354760,p.S141F|uc003acz.4,p.S141F|NM_001886,p.S141F	protein_coding, processed_transcript	uc003acz.4	nonsynonymous SNV	exon5	c.C422T	p.S141F	LQAMGWEGNEVGSFHVHSGAWVCSQ	LQAMGWEGNEVGFFHVHSGAWVCSQ	1.0	8.0	unscreened	-	3466_22:27024373-27024373 C>T_LQAMGWEGNEVGFFHVHSGAWVCSQ
2:152502646-152502646 C>T	0.0	3466	MELANOMA	-	-	-	-	NEB	uc002txu.3,p.D2512N|uc010fnx.3,p.D2512N|ENST00000604864,p.D2512N|uc021vrb.1,p.D2512N|NM_004543,p.D2512N|NM_001164508,p.D2512N|uc021vrd.1,p.D2512N|ENST00000172853,p.D2512N|NM_001271208,p.D2512N|uc021vrc.1,p.D2512N|NM_001164507,p.D2512N|uc031rpp.1,p.D2512N|ENST00000603639,p.D2512N|ENST00000409198,p.D2512N|ENST00000427231,p.D2512N|ENST00000397345,p.D2512N	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon55	c.G7534A	p.D2512N	IVLAKANLINTSDKLYRMGYEELKR	IVLAKANLINTSNKLYRMGYEELKR	6.0	8.0	unscreened	-	3466_2:152502646-152502646 C>T_IVLAKANLINTSNKLYRMGYEELKR
19:58565276-58565276 C>T, 19:58565277-58565277 C>T	0.0	3466	MELANOMA	-	-	-	-	ZSCAN1	ENST00000282326,p.P362L|NM_182572,p.P362L|uc002qrc.1,p.P362L	protein_coding	uc002qrc.1	nonsynonymous SNV	exon6	c.C1085T	p.P362L	KAPRSKGPRESVPPRDGAQGPVAPR	KAPRSKGPRESVLPRDGAQGPVAPR	1.0	1.0	unscreened	Dinucleotide variant, 19:58565276-58565276 C>T, residue 13 P>L PR	3466_19:58565276-58565276 C>T, 19:58565277-58565277 C>T_KAPRSKGPRESVLPRDGAQGPVAPR
1:248789634-248789634 C>T	0.0	3466	MELANOMA	-	-	-	-	OR2T11	NM_001001964,p.E266K|uc001ier.1,p.E266K|ENST00000330803,p.E266K	protein_coding	uc001ier.1	nonsynonymous SNV	exon1	c.G796A	p.E266K	YTYVLPQSFHTPEQDKVVSAFYTIV	YTYVLPQSFHTPKQDKVVSAFYTIV	1.0	7.0	unscreened	-	3466_1:248789634-248789634 C>T_YTYVLPQSFHTPKQDKVVSAFYTIV
15:48537066-48537066 G>A	0.0	3466	MELANOMA	-	-	-	-	SLC12A1	uc001zwn.4,p.E473K|NM_001184832,p.E473K|NM_000338,p.E473K|ENST00000559641,p.E286K|ENST00000396577,p.E473K|uc001zwq.4,p.E244K|ENST00000558405,p.E473K|ENST00000380993,p.E473K|uc001zwr.4,p.E200K|uc010uew.1,p.E279K|uc010bem.3,p.E473K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uew.1	nonsynonymous SNV	exon10	c.G835A	p.E279K	CGLGYDFSRCRHEPCQYGLMNNFQV	CGLGYDFSRCRHKPCQYGLMNNFQV	1.0	1.0	unscreened	-	3466_15:48537066-48537066 G>A_CGLGYDFSRCRHKPCQYGLMNNFQV
8:70594552-70594552 T>A	0.0	3466	MELANOMA	-	-	-	-	SLCO5A1	ENST00000526750,p.I312F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000526750	nonsynonymous SNV	exon3	c.A934T	p.I312F	LYLDLLSPCPIGI	LYLDLLSPCPIGF	1.0	9.0	unscreened	-	3466_8:70594552-70594552 T>A_LYLDLLSPCPIGF
10:32978041-32978041 C>T	0.0	3466	MELANOMA	-	-	-	-	CCDC7	uc001iwl.1,p.S80L|NM_024688,p.S72L|uc001iwm.1,p.S86L|ENST00000375030,p.S80L|ENST00000302316,p.S72L|ENST00000375025,p.S72L|uc001iwn.4,p.S72L|ENST00000375028,p.S86L	protein_coding, processed_transcript, nonsense_mediated_decay	uc001iwn.4	nonsynonymous SNV	exon5	c.C215T	p.S72L	NLILRHQDSMSKSEMQVKEQRTLKG	NLILRHQDSMSKLEMQVKEQRTLKG	2.0	8.0	unscreened	-	3466_10:32978041-32978041 C>T_NLILRHQDSMSKLEMQVKEQRTLKG
19:42342084-42342084 G>A	0.0	3466	MELANOMA	-	-	-	-	LYPD4	ENST00000343055,p.P120S|uc002orq.1,p.P120S|ENST00000330743,p.P155S|NM_173506,p.P155S|uc002orp.1,p.P155S|NM_001291419,p.P120S|ENST00000601246,p.P120S	protein_coding	uc002orq.1	nonsynonymous SNV	exon4	c.C358T	p.P120S	PTCVGEHMKDCLPNFVTTNSCPLAA	PTCVGEHMKDCLSNFVTTNSCPLAA	1.0	3.0	unscreened	-	3466_19:42342084-42342084 G>A_PTCVGEHMKDCLSNFVTTNSCPLAA
11:45234086-45234086 C>T	0.0	3466	MELANOMA	-	-	-	-	PRDM11	uc021qgl.1,p.R20W	protein_coding, processed_transcript	uc021qgl.1	nonsynonymous SNV	exon1	c.C58T	p.R20W	QGSLFGCLCSGLRRKRPTWPGPPCS	QGSLFGCLCSGLWRKRPTWPGPPCS	4.0	1.0	unscreened	-	3466_11:45234086-45234086 C>T_QGSLFGCLCSGLWRKRPTWPGPPCS
12:102020665-102020665 C>T	0.0	3466	MELANOMA	-	-	-	-	MYBPC1	uc001tif.2,p.S40F|ENST00000549145,p.S40F	retained_intron, protein_coding, processed_transcript	uc001tif.2	nonsynonymous SNV	exon4	c.C119T	p.S40F	AGTTPAKDEEEVSPPSALPPDWTLV	AGTTPAKDEEEVFPPSALPPDWTLV	4.0	9.0	unscreened	-	3466_12:102020665-102020665 C>T_AGTTPAKDEEEVFPPSALPPDWTLV
X:83371290-83371290 C>T	0.0	3466	MELANOMA	-	-	-	-	RPS6KA6	uc011mqt.2,p.E319K|uc004eej.2,p.E319K|ENST00000543399,p.E319K|uc011mqu.2,p.E216K|NM_014496,p.E319K|ENST00000262752,p.E319K	protein_coding, processed_transcript	uc011mqu.2	nonsynonymous SNV	exon13	c.G646A	p.E216K	LFKRNPANRLGSEGVEEIKRHLFFA	LFKRNPANRLGSKGVEEIKRHLFFA	1.0	9.0	unscreened	-	3466_X:83371290-83371290 C>T_LFKRNPANRLGSKGVEEIKRHLFFA
X:114141408-114141408 G>A	0.0	3466	MELANOMA	-	-	-	-	HTR2C	NM_001256761,p.E238K|uc004epv.1,p.E238K|ENST00000371950,p.E238K	protein_coding	uc004epv.1	nonsynonymous SNV	exon6	c.G712A	p.E238K	WTKSGFPEVLQEEYGRGRELCKP	WTKSGFPEVLQEKYGRGRELCKP	1.0	9.0	unscreened	-	3466_X:114141408-114141408 G>A_WTKSGFPEVLQEKYGRGRELCKP
10:21959627-21959627 C>T	1.0	3466	MELANOMA	-	-	-	1	MLLT10	ENST00000446906,p.P349S|ENST00000377059,p.P349S|uc001iqs.3,p.P349S|uc001iqt.3,p.P349S|ENST00000307729,p.P349S|uc021pny.1,p.P349S|NM_001195626,p.P349S|NM_004641,p.P349S|ENST00000377072,p.P349S	protein_coding, processed_transcript	uc021pny.1	nonsynonymous SNV	exon9	c.C1045T	p.P349S	NPGTTVSAASPFPQGSFSGTPGSVK	NPGTTVSAASPFSQGSFSGTPGSVK	8.0	5.0	-	-	3466_10:21959627-21959627 C>T_NPGTTVSAASPFSQGSFSGTPGSVK
2:111666389-111666389 C>T	0.0	3466	MELANOMA	-	-	-	-	ACOXL	ENST00000389811,p.T271I|ENST00000439055,p.T271I|uc021vmn.1,p.T94I|uc021vmm.1,p.T94I|NM_001142807,p.T271I|ENST00000417074,p.T109I|uc010yxk.1,p.T271I	protein_coding, processed_transcript, nonsense_mediated_decay	uc021vmn.1	nonsynonymous SNV	exon5	c.C281T	p.T94I	RYSHSRRQFGPKTKEEVKIIEHQTQ	RYSHSRRQFGPKIKEEVKIIEHQTQ	1.0	1.0	unscreened	-	3466_2:111666389-111666389 C>T_RYSHSRRQFGPKIKEEVKIIEHQTQ
20:61944557-61944557 G>A	0.0	3466	MELANOMA	-	-	-	-	COL20A1	NM_020882,p.R722K|ENST00000358894,p.R722K|ENST00000435874,p.R729K|uc011aau.2,p.R722K|ENST00000326996,p.R722K|uc011aav.2,p.R543K|ENST00000422202,p.R729K	retained_intron, protein_coding, processed_transcript	uc011aav.2	nonsynonymous SNV	exon13	c.G1628A	p.R543K	HTEYDVTILAYYRDGARSDPVSLRY	HTEYDVTILAYYKDGARSDPVSLRY	2.0	3.0	unscreened	-	3466_20:61944557-61944557 G>A_HTEYDVTILAYYKDGARSDPVSLRY
10:106899195-106899195 G>A	0.0	3466	MELANOMA	-	-	ID=COSM914589;OCCURENCE=1(breast),1(endometrium)	-	SORCS3	uc001kyi.1,p.R418Q|NM_014978,p.R418Q|ENST00000369701,p.R418Q	protein_coding	uc001kyi.1	nonsynonymous SNV	exon8	c.G1253A	p.R418Q	TTSGRASYYVSYRREAFAQIKLPKY	TTSGRASYYVSYQREAFAQIKLPKY	1.0	5.0	unscreened	-	3466_10:106899195-106899195 G>A_TTSGRASYYVSYQREAFAQIKLPKY
11:58207591-58207591 G>T	0.0	3466	MELANOMA	-	-	-	-	OR5B12	ENST00000302572,p.L12I|NM_001004733,p.L12I|uc010rkh.2,p.L12I	protein_coding	uc010rkh.2	nonsynonymous SNV	exon1	c.C34A	p.L12I	MENNTEVTEFILVGLTDDPELQIP	MENNTEVTEFIIVGLTDDPELQIP	1.0	3.0	unscreened	-	3466_11:58207591-58207591 G>T_MENNTEVTEFIIVGLTDDPELQIP
12:102020665-102020665 C>T	0.0	3466	MELANOMA	-	-	-	-	MYBPC1	NM_206819,p.S40F|ENST00000361685,p.S40F|uc001tig.3,p.S40F|uc001tih.3,p.S40F|NM_002465,p.S40F|ENST00000361466,p.S40F	retained_intron, protein_coding, processed_transcript	uc001tih.3	nonsynonymous SNV	exon4	c.C119T	p.S40F	AGTTPAKDEEEVSPPSALPPGLGSR	AGTTPAKDEEEVFPPSALPPGLGSR	4.0	9.0	unscreened	-	3466_12:102020665-102020665 C>T_AGTTPAKDEEEVFPPSALPPGLGSR
19:39995882-39995882 C>T	0.0	3466	MELANOMA	-	-	-	-	DLL3	uc002olx.2,p.S295F|NM_203486,p.S295F|uc002olw.2,p.S295F|ENST00000356433,p.S295F|uc010egq.3,p.S295F|ENST00000205143,p.S295F|NM_016941,p.S295F	retained_intron, protein_coding, processed_transcript	uc010egq.3	nonsynonymous SNV	exon6	c.C884T	p.S295F	CANGGSCSETPRSFECTCPRGFYGL	CANGGSCSETPRFFECTCPRGFYGL	1.0	8.0	unscreened	-	3466_19:39995882-39995882 C>T_CANGGSCSETPRFFECTCPRGFYGL
8:25766007-25766007 C>T	0.0	3466	MELANOMA	-	-	-	-	EBF2	ENST00000408929,p.D58N|uc003xes.2,p.D206N|ENST00000520164,p.D206N|NM_022659,p.D206N	retained_intron, protein_coding	uc003xes.2	nonsynonymous SNV	exon7	c.G616A	p.D206N	NQNCLKTAGNPRDMRRFQVVLSTTV	NQNCLKTAGNPRNMRRFQVVLSTTV	5.0	1.0	unscreened	-	3466_8:25766007-25766007 C>T_NQNCLKTAGNPRNMRRFQVVLSTTV
2:74642502-74642502 G>A	0.0	3466	MELANOMA	-	-	-	-	C2orf81	ENST00000290390,p.P241S|ENST00000517883,p.P173S|NM_001145054,p.P241S|uc010yrq.1,p.P241S	protein_coding	uc010yrq.1	nonsynonymous SNV	exon4	c.C721T	p.P241S	LSASFQLSVEEAPADDADPSLDPYL	LSASFQLSVEEASADDADPSLDPYL	3.0	6.0	-	-	3466_2:74642502-74642502 G>A_LSASFQLSVEEASADDADPSLDPYL
2:171191899-171191899 C>T	0.0	3466	MELANOMA	0.0014	-	-	-	MYO3B	ENST00000409044,p.P252S|ENST00000334231,p.P261S|uc002uga.3,p.P239S|ENST00000408978,p.P252S|ENST00000317935,p.P252S|ENST00000484338,p.P261S|NM_138995,p.P252S|uc002ufy.3,p.P252S|uc002ufv.4,p.P252S|uc002ufz.3,p.P252S|NM_001083615,p.P252S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002uga.3	nonsynonymous SNV	exon7	c.C715T	p.P239S	HPVKTLFKIPRNPPPTLLHPEKWCE	HPVKTLFKIPRNSPPTLLHPEKWCE	1.0	8.0	unscreened	-	3466_2:171191899-171191899 C>T_HPVKTLFKIPRNSPPTLLHPEKWCE
1:169511495-169511495 C>T	0.0	3466	MELANOMA	-	-	-	-	F5	uc001ggg.1,p.G945R|NM_000130,p.G945R|ENST00000367796,p.G950R|ENST00000367797,p.G945R	protein_coding, processed_transcript	uc001ggg.1	nonsynonymous SNV	exon13	c.G2833A	p.G945R	LLKQSNSSKILVGRWHLASEKGSYE	LLKQSNSSKILVRRWHLASEKGSYE	3.0	6.0	unscreened	-	3466_1:169511495-169511495 C>T_LLKQSNSSKILVRRWHLASEKGSYE
8:52396266-52396266 T>G	0.0	3466	MELANOMA	-	-	-	-	PXDNL	NM_144651,p.H154P|ENST00000356297,p.H154P|uc003xqu.4,p.H154P|ENST00000543296,p.H154P	retained_intron, protein_coding, nonsense_mediated_decay	uc003xqu.4	nonsynonymous SNV	exon6	c.A461C	p.H154P	FGDLLRLERLFLHNNKLSKIPAGSF	FGDLLRLERLFLPNNKLSKIPAGSF	1.0	1.0	unscreened	-	3466_8:52396266-52396266 T>G_FGDLLRLERLFLPNNKLSKIPAGSF
7:82764137-82764137 C>T	0.0	3466	MELANOMA	-	-	-	-	PCLO	NM_014510,p.G910E|uc003uhx.2,p.G910E|NM_033026,p.G910E|ENST00000423517,p.G910E|ENST00000333891,p.G910E|uc003uhv.2,p.G910E	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon3	c.G2729A	p.G910E	PQEQSRRFSLNLGSITDAPKSQPTT	PQEQSRRFSLNLESITDAPKSQPTT	1.0	1.0	unscreened	-	3466_7:82764137-82764137 C>T_PQEQSRRFSLNLESITDAPKSQPTT
1:116666903-116666903 G>A	0.0	3466	MELANOMA	-	-	-	-	MAB21L3	ENST00000369500,p.D136N|uc001egc.1,p.D136N|NM_152367,p.D136N	protein_coding, processed_transcript	uc001egc.1	nonsynonymous SNV	exon4	c.G406A	p.D136N	WQWHETDVNIDGDIVPAKVLLVFRK	WQWHETDVNIDGNIVPAKVLLVFRK	1.0	1.0	unscreened	-	3466_1:116666903-116666903 G>A_WQWHETDVNIDGNIVPAKVLLVFRK
1:158224997-158224997 C>T	0.0	3466	MELANOMA	-	-	-	-	CD1A	uc001frt.3,p.S61F|NM_001763,p.S61F|ENST00000289429,p.S61F	protein_coding	uc001frt.3	nonsynonymous SNV	exon2	c.C182T	p.S61F	LSDLQTHTWDSNSSTIVFLCPWSRG	LSDLQTHTWDSNFSTIVFLCPWSRG	1.0	3.0	unscreened	-	3466_1:158224997-158224997 C>T_LSDLQTHTWDSNFSTIVFLCPWSRG
12:18242180-18242180 G>A	0.0	3466	MELANOMA	-	-	ID=COSM233251,COSM233252;OCCURENCE=1(skin),1(endometrium)	-	RERGL	ENST00000229002,p.S13F|uc001rdq.3,p.S13F|NM_024730,p.S13F	protein_coding, processed_transcript	uc001rdq.3	nonsynonymous SNV	exon2	c.C38T	p.S13F	MSNFLHLKYNEKSVSVTKALTVRFL	MSNFLHLKYNEKFVSVTKALTVRFL	1.0	6.0	unscreened	-	3466_12:18242180-18242180 G>A_MSNFLHLKYNEKFVSVTKALTVRFL
12:88420300-88420300 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1197980;OCCURENCE=1(large_intestine),1(skin)	-	C12orf50	NM_152589,p.R33Q|ENST00000551163,p.R33Q|ENST00000550553,p.R33Q|uc001tan.3,p.R87Q|uc001tam.1,p.R33Q|ENST00000298699,p.R33Q	protein_coding, processed_transcript	uc001tan.3	nonsynonymous SNV	exon3	c.G260A	p.R87Q	VKISCIFYHSKPRNINGLFLPPSSN	VKISCIFYHSKPQNINGLFLPPSSN	1.0	9.0	unscreened	-	3466_12:88420300-88420300 C>T_VKISCIFYHSKPQNINGLFLPPSSN
10:5247768-5247768 G>A	0.0	3466	MELANOMA	-	-	-	-	AKR1C4	ENST00000263126,p.D140N|uc001ihw.2,p.D140N|ENST00000380448,p.D140N|NM_001818,p.D140N	protein_coding, processed_transcript	uc001ihw.2	nonsynonymous SNV	exon4	c.G418A	p.D140N	PLPKDENGKVIFDTVDLCATWEVME	PLPKDENGKVIFNTVDLCATWEVME	1.0	3.0	unscreened	Snp within 36 nucleotides, 10:5247784-5247784 C>G, residue 18 S>C PR	3466_10:5247768-5247768 G>A_PLPKDENGKVIFNTVDLCATWEVME
2:141079576-141079576 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1691087;OCCURENCE=1(skin)	1	LRP1B	ENST00000389484,p.G4199E|uc002tvj.1,p.G4199E|NM_018557,p.G4199E	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon82	c.G12596A	p.G4199E	LNPSGATCVCPEGKYLINGTCNDDS	LNPSGATCVCPEEKYLINGTCNDDS	1.0	6.0	unscreened	-	3466_2:141079576-141079576 C>T_LNPSGATCVCPEEKYLINGTCNDDS
X:74670568-74670568 A>G	0.0	3466	MELANOMA	-	-	-	-	ZDHHC15	uc004eci.2,p.F141L|NM_001146257,p.F141L	protein_coding, processed_transcript	uc004eci.2	nonsynonymous SNV	exon3	c.T421C	p.F141L	LSKYLRKAKSYMFSN	LSKYLRKAKSYMLSN	1.0	9.0	unscreened	-	3466_X:74670568-74670568 A>G_LSKYLRKAKSYMLSN
12:118298107-118298107 C>T	0.0	3466	MELANOMA	-	-	-	-	KSR2	uc001two.2,p.E75K|ENST00000425217,p.E75K|ENST00000339824,p.E104K|NM_173598,p.E75K	retained_intron, protein_coding, processed_transcript	uc001two.2	nonsynonymous SNV	exon2	c.G223A	p.E75K	LRHWFRIVDVRKEVLEEISPGQLSL	LRHWFRIVDVRKKVLEEISPGQLSL	2.0	9.0	unscreened	-	3466_12:118298107-118298107 C>T_LRHWFRIVDVRKKVLEEISPGQLSL
X:151092842-151092842 G>A	0.0	3466	MELANOMA	-	-	-	-	MAGEA4	ENST00000393920,p.E236K|uc004ffd.3,p.E236K|uc004ffa.3,p.E236K|uc004ffb.3,p.E236K|NM_002362,p.E236K|uc022cgu.1,p.E264K|ENST00000370337,p.E236K|ENST00000370335,p.E236K|NM_001011550,p.E236K|ENST00000393921,p.E236K|uc022cgv.1,p.E236K|NM_001011548,p.E236K|ENST00000370340,p.E236K|ENST00000360243,p.E236K|uc004ffc.3,p.E236K|NM_001011549,p.E236K|ENST00000276344,p.E236K|uc004fez.3,p.E236K	protein_coding	uc022cgv.1	nonsynonymous SNV	exon1	c.G706A	p.E236K	EELGVMGVYDGREHTVYGEPRKLLT	EELGVMGVYDGRKHTVYGEPRKLLT	1.0	9.0	unscreened	-	3466_X:151092842-151092842 G>A_EELGVMGVYDGRKHTVYGEPRKLLT
2:43953498-43953498 G>A	0.0	3466	MELANOMA	-	-	-	-	PLEKHH2	ENST00000282406,p.G877R|NM_172069,p.G877R|uc010yny.2,p.G877R|uc002rtf.3,p.G876R	retained_intron, protein_coding, nonsense_mediated_decay	uc010yny.2	nonsynonymous SNV	exon17	c.G2629A	p.G877R	RSCDSDEDYEASGRSLLSTHYTIVI	RSCDSDEDYEASRRSLLSTHYTIVI	5.0	3.0	unscreened	-	3466_2:43953498-43953498 G>A_RSCDSDEDYEASRRSLLSTHYTIVI
9:137707809-137707809 G>A	1.0	3466	MELANOMA	-	-	ID=COSM1636081;OCCURENCE=1(liver)	-	COL5A1	NM_001278074,p.G1366E|NM_000093,p.G1366E|ENST00000371817,p.G1366E|uc031tfl.1,p.G1366E|uc004cfe.4,p.G1366E	retained_intron, protein_coding, processed_transcript	uc031tfl.1	nonsynonymous SNV	exon52	c.G4097A	p.G1366E	GPAGQDGPPGDKGDDGEPGQTGSPG	GPAGQDGPPGDKEDDGEPGQTGSPG	10.0	9.0	-	-	3466_9:137707809-137707809 G>A_GPAGQDGPPGDKEDDGEPGQTGSPG
11:59210885-59210885 C>T	0.0	3466	MELANOMA	-	-	-	-	OR5A1	ENST00000302030,p.P82S|NM_001004728,p.P82S|uc001nnx.1,p.P82S	protein_coding	uc001nnx.1	nonsynonymous SNV	exon1	c.C244T	p.P82S	SFIDICYSSAVAPNMLTDFFWEQKT	SFIDICYSSAVASNMLTDFFWEQKT	1.0	5.0	unscreened	-	3466_11:59210885-59210885 C>T_SFIDICYSSAVASNMLTDFFWEQKT
X:114141190-114141190 G>A	0.0	3466	MELANOMA	-	-	-	-	HTR2C	uc004epu.1,p.E197K|NM_001256760,p.E197K|ENST00000276198,p.E197K|uc010nqc.1,p.E197K|NM_000868,p.E197K|ENST00000371951,p.E197K	protein_coding	uc010nqc.1	nonsynonymous SNV	exon7	c.G589A	p.E197K	VSVPIPVIGLRDEEKVFVNNTTCVL	VSVPIPVIGLRDKEKVFVNNTTCVL	1.0	9.0	unscreened	-	3466_X:114141190-114141190 G>A_VSVPIPVIGLRDKEKVFVNNTTCVL
1:120306814-120306814 C>T	0.0	3466	MELANOMA	-	-	-	-	HMGCS2	uc021osx.1,p.M88I|NM_005518,p.M180I|ENST00000369406,p.M180I|uc001eid.3,p.M180I	protein_coding, processed_transcript	uc021osx.1	nonsynonymous SNV	exon1	c.G264A	p.M88I	GGTASLFNAANWMESSSWDGRYAMV	GGTASLFNAANWIESSSWDGRYAMV	1.0	8.0	unscreened	-	3466_1:120306814-120306814 C>T_GGTASLFNAANWIESSSWDGRYAMV
X:151123316-151123316 C>T	0.0	3466	MELANOMA	-	-	-	-	GABRE	ENST00000370328,p.V460I|NM_004961,p.V460I|uc004ffi.3,p.V460I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004ffi.3	nonsynonymous SNV	exon9	c.G1378A	p.V460I	EWCKRFKKYFCMVPDCEGSTWQQGR	EWCKRFKKYFCMIPDCEGSTWQQGR	4.0	9.0	unscreened	-	3466_X:151123316-151123316 C>T_EWCKRFKKYFCMIPDCEGSTWQQGR
19:17766723-17766723 G>A	0.0	3466	MELANOMA	-	-	-	-	UNC13A	ENST00000551649,p.P418S|uc031rjw.1,p.P418S|uc031rjv.1,p.P418S|ENST00000519716,p.P418S|ENST00000550896,p.P418S|NM_001080421,p.P418S|ENST00000428389,p.P506S|ENST00000552293,p.P418S|ENST00000252773,p.P418S	retained_intron, protein_coding	uc031rjw.1	nonsynonymous SNV	exon10	c.C1252T	p.P418S	ATPDKVPAAEQIPEAEPPKDEESFR	ATPDKVPAAEQISEAEPPKDEESFR	1.0	3.0	unscreened	-	3466_19:17766723-17766723 G>A_ATPDKVPAAEQISEAEPPKDEESFR
7:82785521-82785521 C>T	0.0	3466	MELANOMA	-	-	-	-	PCLO	uc003uhv.2,p.E146K|ENST00000423517,p.E146K|ENST00000333891,p.E146K|uc003uhx.2,p.E146K|NM_014510,p.E146K|NM_033026,p.E146K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon2	c.G436A	p.E146K	SLKESKSRTDLKEEHKSSMMPGFLS	SLKESKSRTDLKKEHKSSMMPGFLS	1.0	9.0	unscreened	-	3466_7:82785521-82785521 C>T_SLKESKSRTDLKKEHKSSMMPGFLS
20:5903989-5903989 G>A	0.0	3466	MELANOMA	-	-	-	-	CHGB	ENST00000378961,p.G400E|uc010zqz.2,p.G83E|NM_001819,p.G400E|uc002wmg.3,p.G400E	protein_coding, processed_transcript	uc010zqz.2	nonsynonymous SNV	exon4	c.G248A	p.G83E	NYPSLELDKMAHGYGEESEEERGLE	NYPSLELDKMAHEYGEESEEERGLE	2.0	5.0	unscreened	-	3466_20:5903989-5903989 G>A_NYPSLELDKMAHEYGEESEEERGLE
9:36170273-36170273 G>A	0.0	3466	MELANOMA	-	-	-	-	CCIN	uc003zzb.4,p.M258I|ENST00000335119,p.M258I|NM_005893,p.M258I	protein_coding	uc003zzb.4	nonsynonymous SNV	exon1	c.G774A	p.M258I	TSSHTTLIESVLMDRKQERPCSLLV	TSSHTTLIESVLIDRKQERPCSLLV	1.0	9.0	unscreened	-	3466_9:36170273-36170273 G>A_TSSHTTLIESVLIDRKQERPCSLLV
1:228467122-228467122 C>T	0.0	3466	MELANOMA	-	-	-	-	OBSCN	NM_001098623,p.S2458F|uc001hsn.4,p.S2458F|uc001hsq.2,p.S2887F|ENST00000284548,p.S2458F|ENST00000570156,p.S2887F|uc001hsp.2,p.S246F|ENST00000422127,p.S2458F|ENST00000366706,p.S306F|ENST00000359599,p.S1305F|NM_052843,p.S2458F|uc009xez.2,p.S2458F|NM_001271223,p.S2887F	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon27	c.C7373T	p.S2458F	TGPVHFTVGKSRSSARLVVSDIPVV	TGPVHFTVGKSRFSARLVVSDIPVV	4.0	7.0	unscreened	-	3466_1:228467122-228467122 C>T_TGPVHFTVGKSRFSARLVVSDIPVV
6:96652022-96652022 G>A	0.0	3466	MELANOMA	-	-	-	-	FUT9	uc021zcw.1,p.E331K|ENST00000302103,p.E331K|NM_006581,p.E331K|uc003pop.4,p.E331K	protein_coding, processed_transcript	uc021zcw.1	nonsynonymous SNV	exon1	c.G991A	p.E331K	RKDFTVNLPRFWESHACLACDHVKR	RKDFTVNLPRFWKSHACLACDHVKR	1.0	9.0	unscreened	-	3466_6:96652022-96652022 G>A_RKDFTVNLPRFWKSHACLACDHVKR
11:48285669-48285669 A>G	0.0	3466	MELANOMA	-	-	-	-	OR4X1	NM_001004726,p.K86R|ENST00000320048,p.K86R|uc010rht.2,p.K86R	protein_coding	uc010rht.2	nonsynonymous SNV	exon1	c.A257G	p.K86R	VMAPKLIFDSFIKRKVISLKGCLTQ	VMAPKLIFDSFIRRKVISLKGCLTQ	1.0	7.0	unscreened	-	3466_11:48285669-48285669 A>G_VMAPKLIFDSFIRRKVISLKGCLTQ
12:33532801-33532801 C>T	0.0	3466	MELANOMA	-	-	ID=COSM225327;OCCURENCE=1(NS),1(pancreas)	-	SYT10	uc001rll.1,p.R489Q|ENST00000228567,p.R489Q|ENST00000535526,p.R308Q|NM_198992,p.R489Q|uc009zju.1,p.R299Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc009zju.1	nonsynonymous SNV	exon8	c.G896A	p.R299Q	GRDHWNEMLAYHRKPITHWHPLLEL	GRDHWNEMLAYHQKPITHWHPLLEL	1.0	4.0	unscreened	-	3466_12:33532801-33532801 C>T_GRDHWNEMLAYHQKPITHWHPLLEL
20:62039796-62039796 C>T	0.0	3466	MELANOMA	-	-	-	-	KCNQ2	NM_172107,p.M619I|NM_172108,p.M588I|uc002yfb.1,p.M591I|uc002yfa.1,p.M601I|ENST00000359689,p.M619I|ENST00000430658,p.M588I|ENST00000360480,p.M591I|ENST00000354587,p.M627I|NM_004518,p.M591I|NM_172106,p.M601I|ENST00000370226,p.M589I|ENST00000370224,p.M627I|uc002yez.1,p.M588I|uc002yey.1,p.M619I|ENST00000344462,p.M615I|ENST00000357249,p.M601I|ENST00000359125,p.M619I	protein_coding, processed_transcript	uc002yfb.1	nonsynonymous SNV	exon14	c.G1773A	p.M591I	GPAEAELPEDPSMMGRLGKVEKQVL	GPAEAELPEDPSIMGRLGKVEKQVL	1.0	4.0	unscreened	-	3466_20:62039796-62039796 C>T_GPAEAELPEDPSIMGRLGKVEKQVL
4:155508671-155508671 C>T	0.0	3466	MELANOMA	-	-	-	-	FGA	NM_021871,p.R168Q|ENST00000403106,p.R168Q|uc003iod.1,p.R168Q|ENST00000302053,p.R168Q|uc003ioe.1,p.R168Q|NM_000508,p.R168Q	protein_coding	uc003ioe.1	nonsynonymous SNV	exon4	c.G503A	p.R168Q	QKNVRAQLVDMKRLEVDIDIKIRSC	QKNVRAQLVDMKQLEVDIDIKIRSC	1.0	3.0	unscreened	-	3466_4:155508671-155508671 C>T_QKNVRAQLVDMKQLEVDIDIKIRSC
1:65141177-65141177 G>A	1.0	3466	MELANOMA	-	-	-	-	CACHD1	ENST00000290039,p.E890K|NM_020925,p.E890K|uc001dbq.1,p.E645K|uc010opa.1,p.E134K|NM_001293274,p.E645K|uc001dbo.1,p.E890K|uc001dbp.1,p.E645K|ENST00000371073,p.E941K	retained_intron, protein_coding, processed_transcript	uc010opa.1	nonsynonymous SNV	exon6	c.G400A	p.E134K	IPGTNAFVGIVNETCDSLAFCACSM	IPGTNAFVGIVNKTCDSLAFCACSM	2.0	5.0	unscreened	-	3466_1:65141177-65141177 G>A_IPGTNAFVGIVNKTCDSLAFCACSM
14:81244351-81244351 G>A	1.0	3466	MELANOMA	-	-	-	-	CEP128	ENST00000281129,p.R751C|uc031qpo.1,p.R778C|uc001xux.2,p.R751C|NM_152446,p.R751C|ENST00000555265,p.R751C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qpo.1	nonsynonymous SNV	exon17	c.C2332T	p.R778C	ESLEEKNMAKIHRGQLEKLKSQCDR	ESLEEKNMAKIHCGQLEKLKSQCDR	4.0	3.0	unscreened	-	3466_14:81244351-81244351 G>A_ESLEEKNMAKIHCGQLEKLKSQCDR
X:151092293-151092293 G>A	0.0	3466	MELANOMA	-	-	-	-	MAGEA4	uc004ffb.3,p.E53K|ENST00000370340,p.E53K|ENST00000393921,p.E53K|ENST00000441865,p.E53K|ENST00000360243,p.E53K|ENST00000448295,p.E53K|ENST00000425182,p.E53K|NM_002362,p.E53K|ENST00000431963,p.E53K|NM_001011550,p.E53K|ENST00000370335,p.E53K|uc022cgv.1,p.E53K|uc022cgu.1,p.E81K|ENST00000430273,p.E53K|uc004fez.3,p.E53K|ENST00000416020,p.E53K|uc004ffc.3,p.E53K|ENST00000276344,p.E53K|ENST00000393920,p.E53K|uc004ffa.3,p.E53K|ENST00000370337,p.E53K|NM_001011549,p.E53K|ENST00000431971,p.E53K|NM_001011548,p.E53K|uc004ffd.3,p.E53K|ENST00000457310,p.E53K	protein_coding	uc022cgv.1	nonsynonymous SNV	exon1	c.G157A	p.E53K	SSSSPLVPGTLEEVPAAESAGPPQS	SSSSPLVPGTLEKVPAAESAGPPQS	1.0	9.0	unscreened	-	3466_X:151092293-151092293 G>A_SSSSPLVPGTLEKVPAAESAGPPQS
X:140995511-140995511 C>T	0.0	3466	MELANOMA	-	-	-	-	MAGEC1	NM_005462,p.P774L|uc022cfi.1,p.P433L|ENST00000285879,p.P774L|uc004fbt.3,p.P774L	protein_coding	uc022cfi.1	nonsynonymous SNV	exon1	c.C1298T	p.P433L	SPQSPPEGPAQSPLQRPVSSFFSYT	SPQSPPEGPAQSLLQRPVSSFFSYT	1.0	9.0	unscreened	-	3466_X:140995511-140995511 C>T_SPQSPPEGPAQSLLQRPVSSFFSYT
19:51169497-51169497 C>T	0.0	3466	MELANOMA	-	-	-	-	SHANK1	NM_016148,p.G1907E|ENST00000359082,p.G1898E|ENST00000293441,p.G1907E|uc002psx.1,p.G1907E|ENST00000391814,p.G1915E|ENST00000468654,p.G165E|ENST00000391813,p.G1294E|uc002psw.1,p.G1291E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002psx.1	nonsynonymous SNV	exon22	c.G5720A	p.G1907E	RGGSGGGGDSHHGGASYVPERTSSL	RGGSGGGGDSHHEGASYVPERTSSL	4.0	3.0	unscreened	-	3466_19:51169497-51169497 C>T_RGGSGGGGDSHHEGASYVPERTSSL
8:73850027-73850027 G>A	0.0	3466	MELANOMA	-	-	-	-	KCNB2	ENST00000523207,p.E813K|NM_004770,p.E813K|uc003xzb.3,p.E813K	protein_coding	uc003xzb.3	nonsynonymous SNV	exon3	c.G2437A	p.E813K	RRSFTEIDTGDDEDFLELPGAREEK	RRSFTEIDTGDDKDFLELPGAREEK	1.0	9.0	unscreened	-	3466_8:73850027-73850027 G>A_RRSFTEIDTGDDKDFLELPGAREEK
3:164755710-164755710 G>T	0.0	3466	MELANOMA	-	-	-	-	SI	NM_001041,p.P802T|ENST00000264382,p.P802T|uc003fei.3,p.P802T	retained_intron, protein_coding, nonsense_mediated_decay	uc003fei.3	nonsynonymous SNV	exon21	c.C2404A	p.P802T	HLRGGYIIPIQEPDVTTTASRKNPL	HLRGGYIIPIQETDVTTTASRKNPL	1.0	6.0	unscreened	-	3466_3:164755710-164755710 G>T_HLRGGYIIPIQETDVTTTASRKNPL
11:78567163-78567163 C>T	0.0	3466	MELANOMA	-	-	-	-	TENM4	uc001ozl.4,p.G439E|ENST00000278550,p.G439E|NM_001098816,p.G439E	retained_intron, protein_coding, processed_transcript	uc001ozl.4	nonsynonymous SNV	exon11	c.G1316A	p.G439E	EDSFIDSGEIDVGRRASQKIPPGTF	EDSFIDSGEIDVERRASQKIPPGTF	7.0	5.0	unscreened	-	3466_11:78567163-78567163 C>T_EDSFIDSGEIDVERRASQKIPPGTF
1:21887203-21887203 A>G	0.0	3466	MELANOMA	-	-	-	-	ALPL	uc001beu.4,p.N49S|ENST00000374832,p.N49S|NM_000478,p.N49S|uc001bet.3,p.N49S|ENST00000425315,p.N49S|ENST00000374840,p.N49S	protein_coding, processed_transcript	uc001beu.4	nonsynonymous SNV	exon3	c.A146G	p.N49S	LKYALELQKLNTNVAKNVIMFLGDG	LKYALELQKLNTSVAKNVIMFLGDG	3.0	7.0	unscreened	-	3466_1:21887203-21887203 A>G_LKYALELQKLNTSVAKNVIMFLGDG
5:140230044-140230044 G>A	0.0	3466	MELANOMA	-	-	-	-	PCDHA9	NM_014005,p.G655E|uc003lhu.2,p.G655E|ENST00000378122,p.G655E|NM_031857,p.G655E|uc003lht.1,p.G655E|ENST00000532602,p.G655E	protein_coding	uc003lhu.2	nonsynonymous SNV	exon1	c.G1964A	p.G655E	PRQRLLVLVKDHGEPALTATATVLV	PRQRLLVLVKDHEEPALTATATVLV	1.0	9.0	unscreened	-	3466_5:140230044-140230044 G>A_PRQRLLVLVKDHEEPALTATATVLV
18:54814632-54814632 C>T	0.0	3466	MELANOMA	-	-	-	-	BOD1L2	ENST00000585477,p.S30L|NM_001257964,p.S30L|uc002lgm.3,p.S30L	protein_coding	uc002lgm.3	nonsynonymous SNV	exon1	c.C89T	p.S30L	RASGGGGPINPASLPPGDPQLIAII	RASGGGGPINPALLPPGDPQLIAII	1.0	4.0	unscreened	-	3466_18:54814632-54814632 C>T_RASGGGGPINPALLPPGDPQLIAII
16:77393228-77393228 C>T	0.0	3466	MELANOMA	-	-	-	-	ADAMTS18	NM_199355,p.E437K|uc010chc.1,p.E25K|ENST00000282849,p.E437K|uc002ffe.1,p.E133K|uc002ffc.4,p.E437K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010chc.1	nonsynonymous SNV	exon3	c.G73A	p.E25K	DTGLGLAFTIAHESGHNFGMIHDGE	DTGLGLAFTIAHKSGHNFGMIHDGE	1.0	3.0	unscreened	-	3466_16:77393228-77393228 C>T_DTGLGLAFTIAHKSGHNFGMIHDGE
3:130120673-130120673 G>A	0.0	3466	MELANOMA	-	-	-	-	COL6A5	uc010htk.2,p.G1401E|ENST00000312481,p.G1401E|NM_153264,p.G1401E|ENST00000265379,p.G1401E|NM_001278298,p.G1401E|ENST00000432398,p.G1401E|uc010htj.2,p.G1401E	protein_coding, nonsense_mediated_decay	uc010htk.2	nonsynonymous SNV	exon12	c.G4202A	p.G1401E	TFCKCPGIPGPHGTRGLQAMKGSQG	TFCKCPGIPGPHETRGLQAMKGSQG	1.0	5.0	unscreened	-	3466_3:130120673-130120673 G>A_TFCKCPGIPGPHETRGLQAMKGSQG
7:103206734-103206734 C>T	0.0	3466	MELANOMA	-	-	-	-	RELN	NM_173054,p.G1625R|uc010liz.3,p.G1625R|NM_005045,p.G1625R|ENST00000428762,p.G1625R|uc022ajr.1,p.G1625R|uc022ajq.1,p.G1625R|ENST00000424685,p.G1625R|ENST00000343529,p.G1625R	retained_intron, protein_coding, processed_transcript	uc022ajr.1	nonsynonymous SNV	exon33	c.G4873A	p.G1625R	SIDLQANWYRIQGGQVDIDCLSMDT	SIDLQANWYRIQRGQVDIDCLSMDT	2.0	9.0	unscreened	-	3466_7:103206734-103206734 C>T_SIDLQANWYRIQRGQVDIDCLSMDT
2:228767781-228767781 A>G	0.0	3466	MELANOMA	-	-	-	-	DAW1	NM_178821,p.K202E|uc010zlw.1,p.K187E|ENST00000373666,p.K202E|ENST00000545118,p.K187E|ENST00000309931,p.K202E|uc002vpn.1,p.K202E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zlw.1	nonsynonymous SNV	exon8	c.A559G	p.K187E	TLVATGSMDTTAKLWDIQNGEEVYT	TLVATGSMDTTAELWDIQNGEEVYT	1.0	7.0	unscreened	-	3466_2:228767781-228767781 A>G_TLVATGSMDTTAELWDIQNGEEVYT
22:21984240-21984240 C>T	1.0	3466	MELANOMA	-	-	-	-	YDJC	uc002zvd.2,p.D22N|uc002zvb.2,p.D22N|ENST00000415762,p.D22N|NM_001017964,p.D22N|ENST00000292778,p.D22N|ENST00000398873,p.D22N	retained_intron, protein_coding, nonsense_mediated_decay	uc002zvd.2	nonsynonymous SNV	exon1	c.G64A	p.D22N	VTADDFGYCPRRDEGIVEAFLAGAV	VTADDFGYCPRRNEGIVEAFLAGAV	4.0	8.0	unscreened	-	3466_22:21984240-21984240 C>T_VTADDFGYCPRRNEGIVEAFLAGAV
1:47548045-47548045 A>T	0.0	3466	MELANOMA	-	-	-	-	CYP4Z1	NM_178134,p.K135M|ENST00000334194,p.K135M|uc001cqu.1,p.K135M	protein_coding, processed_transcript	uc001cqu.1	nonsynonymous SNV	exon4	c.A404T	p.K135M	RGLVTLDGSKWKKHRQIVKPGFNIS	RGLVTLDGSKWKMHRQIVKPGFNIS	1.0	3.0	unscreened	-	3466_1:47548045-47548045 A>T_RGLVTLDGSKWKMHRQIVKPGFNIS
2:48950608-48950608 C>T	0.0	3466	MELANOMA	-	-	-	-	LHCGR	ENST00000428232,p.E141K	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000428232	nonsynonymous SNV	exon6	c.G421A	p.E141K	TIPGNAFQGMNNESVTLPWQNCDEA	TIPGNAFQGMNNKSVTLPWQNCDEA	1.0	3.0	unscreened	-	3466_2:48950608-48950608 C>T_TIPGNAFQGMNNKSVTLPWQNCDEA
X:142718267-142718267 C>T	0.0	3466	MELANOMA	-	-	-	-	SLITRK4	uc022cfl.1,p.D220N|uc004fbx.3,p.D220N|uc022cfm.1,p.D220N|ENST00000356928,p.D220N|ENST00000338017,p.D220N|ENST00000381779,p.D220N|NM_173078,p.D220N|NM_001184749,p.D220N|NM_001184750,p.D220N|uc004fby.3,p.D220N	protein_coding	uc022cfm.1	nonsynonymous SNV	exon1	c.G658A	p.D220N	LQLEDNPWNCSCDLLPLKAWLENMP	LQLEDNPWNCSCNLLPLKAWLENMP	3.0	9.0	unscreened	-	3466_X:142718267-142718267 C>T_LQLEDNPWNCSCNLLPLKAWLENMP
10:74884934-74884934 C>T	1.0	3466	MELANOMA	-	-	-	-	NUDT13	ENST00000544879,p.P49L|ENST00000357321,p.P175L|uc010qkc.2,p.P49L|ENST00000349051,p.P175L|NM_001283014,p.P175L|uc001jtk.3,p.P175L|ENST00000372997,p.P175L|uc001jtj.3,p.P175L|NM_015901,p.P175L|NM_001283015,p.P175L|uc001jtl.3,p.P175L|NM_001283016,p.P49L	protein_coding, processed_transcript	uc010qkc.2	nonsynonymous SNV	exon7	c.C146T	p.P49L	HDAHQFCSRSGQPTKKNVAGSKRVC	HDAHQFCSRSGQLTKKNVAGSKRVC	3.0	6.0	unscreened	-	3466_10:74884934-74884934 C>T_HDAHQFCSRSGQLTKKNVAGSKRVC
X:105161640-105161640 C>T	0.0	3466	MELANOMA	-	-	-	-	NRK	uc010npc.1,p.R498C|ENST00000243300,p.R830C|uc004emd.3,p.R830C|NM_198465,p.R830C|ENST00000428173,p.R831C	protein_coding	uc010npc.1	nonsynonymous SNV	exon16	c.C1492T	p.R498C	KPIDIRQRSSQNRQNWLAASESSSE	KPIDIRQRSSQNCQNWLAASESSSE	1.0	9.0	unscreened	-	3466_X:105161640-105161640 C>T_KPIDIRQRSSQNCQNWLAASESSSE
6:52768488-52768488 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1080284;OCCURENCE=1(endometrium),1(breast)	-	GSTA3	ENST00000211122,p.G42E|NM_000847,p.G42E|uc003pbb.3,p.G42E	protein_coding, processed_transcript	uc003pbb.3	nonsynonymous SNV	exon3	c.G125A	p.G42E	FEEKFIGSAEDLGKLRNDGSLMFQQ	FEEKFIGSAEDLEKLRNDGSLMFQQ	1.0	9.0	unscreened	-	3466_6:52768488-52768488 C>T_FEEKFIGSAEDLEKLRNDGSLMFQQ
4:119163279-119163279 C>T	0.0	3466	MELANOMA	-	-	-	-	NDST3	NM_004784,p.H792Y|ENST00000296499,p.H792Y|uc003ibx.3,p.H792Y	retained_intron, protein_coding	uc003ibx.3	nonsynonymous SNV	exon12	c.C2374T	p.H792Y	MDEVQKFLGVLPHYNYSEALTFDSH	MDEVQKFLGVLPYYNYSEALTFDSH	1.0	3.0	unscreened	-	3466_4:119163279-119163279 C>T_MDEVQKFLGVLPYYNYSEALTFDSH
19:51169746-51169746 G>A, 19:51169747-51169747 G>A	0.0	3466	MELANOMA	-	-	-	-	SHANK1	NM_016148,p.P1824L|ENST00000391813,p.P1211L|ENST00000293441,p.P1824L|ENST00000468654,p.P82L|uc002psx.1,p.P1824L|ENST00000391814,p.P1832L|uc002psw.1,p.P1208L|ENST00000359082,p.P1815L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002psx.1	nonsynonymous SNV	exon22	c.C5471T	p.P1824L	AGGPVAVEPEVPPVPLPTASSLPRK	AGGPVAVEPEVPLVPLPTASSLPRK	4.0	8.0	unscreened	Dinucleotide variant, 19:51169747-51169747 G>A, residue 13 P>L PR	3466_19:51169746-51169746 G>A, 19:51169747-51169747 G>A_AGGPVAVEPEVPLVPLPTASSLPRK
3:38936346-38936346 C>T	0.0	3466	MELANOMA	-	-	-	-	SCN11A	ENST00000450244,p.R838Q|ENST00000444237,p.R838Q|ENST00000302328,p.R838Q|NM_014139,p.R838Q|NM_001287223,p.R838Q|ENST00000456224,p.R838Q|uc021wvy.1,p.R838Q	protein_coding	uc021wvy.1	nonsynonymous SNV	exon15	c.G2513A	p.R838Q	EARKTKVQLALDRFRRAFCFVRHTL	EARKTKVQLALDQFRRAFCFVRHTL	1.0	5.0	unscreened	-	3466_3:38936346-38936346 C>T_EARKTKVQLALDQFRRAFCFVRHTL
X:106804033-106804033 C>T	0.0	3466	MELANOMA	-	-	-	-	FRMPD3	ENST00000276185,p.L359F|ENST00000439554,p.L307F|NM_032428,p.L359F	protein_coding, processed_transcript	NM_032428	nonsynonymous SNV	exon11	c.C1075T	p.L359F	LQVIKEKNLRKSLSQQLKAHQTHPS	LQVIKEKNLRKSFSQQLKAHQTHPS	1.0	9.0	unscreened	-	3466_X:106804033-106804033 C>T_LQVIKEKNLRKSFSQQLKAHQTHPS
X:140984505-140984505 G>A	0.0	3466	MELANOMA	-	-	-	-	MAGEC3	uc010nsj.3,p.E23K|uc022cfh.1,p.E23K|ENST00000409007,p.E23K|NM_177456,p.E23K|ENST00000544766,p.E23K|uc004fbs.3,p.E23K|ENST00000536088,p.E23K	protein_coding, processed_transcript	uc022cfh.1	nonsynonymous SNV	exon1	c.G67A	p.E23K	SFEEDFQNPSVTEDLVDAQDSIDEE	SFEEDFQNPSVTKDLVDAQDSIDEE	1.0	9.0	unscreened	-	3466_X:140984505-140984505 G>A_SFEEDFQNPSVTKDLVDAQDSIDEE
16:68023280-68023280 G>A	0.0	3466	MELANOMA	-	-	-	-	DPEP2	ENST00000393847,p.A339V|ENST00000572888,p.A339V|uc002eve.4,p.A339V|ENST00000412757,p.A339V|NM_022355,p.A339V|uc010cey.3,p.A339V	retained_intron, protein_coding, nonsense_mediated_decay	uc010cey.3	nonsynonymous SNV	exon8	c.C1016T	p.A339V	VSTVADHFDHIKAVIGSKFIGIGGD	VSTVADHFDHIKVVIGSKFIGIGGD	1.0	7.0	unscreened	-	3466_16:68023280-68023280 G>A_VSTVADHFDHIKVVIGSKFIGIGGD
1:75805279-75805279 G>A	0.0	3466	MELANOMA	-	-	-	-	SLC44A5	uc001dgt.2,p.P30L|ENST00000370859,p.P30L|uc001dgu.3,p.P30L|ENST00000370855,p.P30L|uc010oqz.1,p.P69L|NM_152697,p.P30L|NM_001130058,p.P30L|uc010ora.2,p.P24L	protein_coding, processed_transcript	uc010ora.2	nonsynonymous SNV	exon2	c.C71T	p.P24L	GDPRTYDPDFKGPVANRSCTDVLCC	GDPRTYDPDFKGLVANRSCTDVLCC	1.0	2.0	unscreened	-	3466_1:75805279-75805279 G>A_GDPRTYDPDFKGLVANRSCTDVLCC
2:189860894-189860894 C>T	0.0	3466	MELANOMA	-	-	-	2	COL3A1	ENST00000317840,p.P551L|ENST00000304636,p.P551L|NM_000090,p.P551L|uc002uqj.1,p.P551L	retained_intron, protein_coding	uc002uqj.1	nonsynonymous SNV	exon23	c.C1652T	p.P551L	PGSPGGPGSDGKPGPPGSQGESGRP	PGSPGGPGSDGKLGPPGSQGESGRP	10.0	1.0	unscreened	-	3466_2:189860894-189860894 C>T_PGSPGGPGSDGKLGPPGSQGESGRP
7:113558466-113558466 G>A	0.0	3466	MELANOMA	-	-	-	-	PPP1R3A	uc010ljy.1,p.P196S|NM_002711,p.P196S|ENST00000284601,p.P196S	protein_coding, nonsense_mediated_decay	uc010ljy.1	nonsynonymous SNV	exon1	c.C586T	p.P196S	ETDQFSFKIVLVPPYQKDGSKVEFC	ETDQFSFKIVLVSPYQKDGSKVEFC	1.0	1.0	unscreened	-	3466_7:113558466-113558466 G>A_ETDQFSFKIVLVSPYQKDGSKVEFC
15:54306874-54306874 G>A	0.0	3466	MELANOMA	-	-	-	-	UNC13C	uc021smr.1,p.E592K|ENST00000537900,p.E592K|ENST00000260323,p.E592K|NM_001080534,p.E592K|uc021sms.1,p.E592K|ENST00000545554,p.E592K	retained_intron, protein_coding	uc021sms.1	nonsynonymous SNV	exon1	c.G1774A	p.E592K	SSSDRELWQRKQEGTATLYDSPKDQ	SSSDRELWQRKQKGTATLYDSPKDQ	1.0	2.0	unscreened	-	3466_15:54306874-54306874 G>A_SSSDRELWQRKQKGTATLYDSPKDQ
6:46047694-46047694 G>A	0.0	3466	MELANOMA	-	-	-	-	CLIC5	uc003oxv.3,p.P96S|NM_001114086,p.P96S|ENST00000185206,p.P96S	protein_coding, processed_transcript	uc003oxv.3	nonsynonymous SNV	exon1	c.C286T	p.P96S	PDEIYSELQEAHPGEPQEDRGISME	PDEIYSELQEAHSGEPQEDRGISME	2.0	1.0	unscreened	-	3466_6:46047694-46047694 G>A_PDEIYSELQEAHSGEPQEDRGISME
1:57169933-57169933 C>T	0.0	3466	MELANOMA	-	-	-	-	PRKAA2	uc031pms.1,p.P247S|NM_006252,p.P360S|uc031pmr.1,p.P247S|uc001cyk.4,p.P360S|ENST00000371244,p.P360S	protein_coding	uc031pms.1	nonsynonymous SNV	exon5	c.C739T	p.P247S	SGSFMDDSAMHIPPGLKPHPERMPP	SGSFMDDSAMHISPGLKPHPERMPP	2.0	3.0	unscreened	-	3466_1:57169933-57169933 C>T_SGSFMDDSAMHISPGLKPHPERMPP
10:21101809-21101809 C>T	0.0	3466	MELANOMA	-	-	-	-	NEBL	ENST00000377122,p.D803N|NM_006393,p.D803N|NM_001173484,p.D140N|uc001iqk.3,p.D140N|NM_213569,p.D140N|uc021pnu.1,p.D140N|ENST00000377159,p.D106N|uc001iqi.3,p.D803N|ENST00000417816,p.D140N	retained_intron, protein_coding, processed_transcript	uc021pnu.1	nonsynonymous SNV	exon5	c.G418A	p.D140N	KTKGRGFTPVVDDPVTERVRKNTQV	KTKGRGFTPVVDNPVTERVRKNTQV	2.0	2.0	unscreened	-	3466_10:21101809-21101809 C>T_KTKGRGFTPVVDNPVTERVRKNTQV
19:55294971-55294971 A>G	0.0	3466	MELANOMA	-	-	-	-	KIR2DL1	uc010erw.1,p.N285S|ENST00000434419,p.N284S|NM_014218,p.N284S|uc002qgz.1,p.N194S|ENST00000291633,p.N310S|ENST00000336077,p.N284S|uc002qhb.1,p.N284S|uc010erz.1,p.N310S	protein_coding	uc010erz.1	nonsynonymous SNV	exon8	c.A929G	p.N310S	KNAAVMDQESAGNRTANSEDSDEQD	KNAAVMDQESAGSRTANSEDSDEQD	1.0	1.0	unscreened	-	3466_19:55294971-55294971 A>G_KNAAVMDQESAGSRTANSEDSDEQD
3:108634977-108634977 C>T	0.0	3466	MELANOMA	-	-	-	-	GUCA1C	NM_005459,p.D147N|ENST00000261047,p.D147N|uc003dxj.2,p.D147N	protein_coding	uc003dxj.2	nonsynonymous SNV	exon3	c.G439A	p.D147N	INLVFHKIDINNDGELTLEEFINGM	INLVFHKIDINNNGELTLEEFINGM	1.0	6.0	unscreened	-	3466_3:108634977-108634977 C>T_INLVFHKIDINNNGELTLEEFINGM
2:165997196-165997196 C>T	0.0	3466	MELANOMA	-	-	-	-	SCN3A	uc002ucx.3,p.A662T|ENST00000283254,p.A662T|NM_006922,p.A662T|ENST00000360093,p.A662T	retained_intron, protein_coding, processed_transcript	uc002ucx.3	nonsynonymous SNV	exon13	c.G1984A	p.A662T	CNGVVSLVGGPSALTSPTGQLPPEG	CNGVVSLVGGPSTLTSPTGQLPPEG	1.0	6.0	unscreened	-	3466_2:165997196-165997196 C>T_CNGVVSLVGGPSTLTSPTGQLPPEG
13:92797151-92797151 G>A	0.0	3466	MELANOMA	-	-	-	-	GPC5	uc010tif.2,p.M490I|ENST00000377067,p.M490I|NM_004466,p.M490I	protein_coding, processed_transcript	uc010tif.2	nonsynonymous SNV	exon7	c.G1470A	p.M490I	KWELLQLGSGGGMVEQVSGDCDDED	KWELLQLGSGGGIVEQVSGDCDDED	1.0	9.0	unscreened	-	3466_13:92797151-92797151 G>A_KWELLQLGSGGGIVEQVSGDCDDED
6:29395416-29395416 C>T	0.0	3466	MELANOMA	-	-	-	-	OR11A1	ENST00000377147,p.M1I|uc003nmg.3,p.M1I|ENST00000377149,p.M1I|NM_013937,p.M1I|ENST00000377148,p.M1I	protein_coding	uc003nmg.3	nonsynonymous SNV	exon1	c.G3A	p.M1I	MEIVSTGNETITE	IEIVSTGNETITE	1.0	1.0	unscreened	-	3466_6:29395416-29395416 C>T_IEIVSTGNETITE
6:49583405-49583405 C>T	0.0	3466	MELANOMA	-	-	-	-	RHAG	uc010jzl.3,p.R191Q|ENST00000371175,p.R191Q|ENST00000229810,p.R191Q|uc003ozk.4,p.R191Q|uc010jzm.3,p.R191Q|NM_000324,p.R191Q	protein_coding	uc010jzm.3	nonsynonymous SNV	exon4	c.G572A	p.R191Q	AYFGLAVAGILYRSGLRKGHENEES	AYFGLAVAGILYQSGLRKGHENEES	1.0	9.0	unscreened	-	3466_6:49583405-49583405 C>T_AYFGLAVAGILYQSGLRKGHENEES
19:56424276-56424276 G>A	0.0	3466	MELANOMA	-	-	-	-	NLRP13	NM_176810,p.P303S|uc010ygg.2,p.P303S|ENST00000342929,p.P303S|ENST00000588751,p.P303S	protein_coding	uc010ygg.2	nonsynonymous SNV	exon5	c.C907T	p.P303S	DFDAPIEEFMSQPEKLLFIIDGFEE	DFDAPIEEFMSQSEKLLFIIDGFEE	1.0	6.0	unscreened	-	3466_19:56424276-56424276 G>A_DFDAPIEEFMSQSEKLLFIIDGFEE
10:105147383-105147383 G>A, 10:105147384-105147384 G>A	1.0	3466	MELANOMA	-	-	-	-	TAF5	NM_006951,p.G705R|uc010qqq.2,p.G650R|ENST00000351396,p.G650R|uc001kwv.3,p.G705R|ENST00000369839,p.G705R	protein_coding	uc010qqq.2	nonsynonymous SNV	exon9	c.G1948A	p.G650R	VLLWDIGHGLMVGELKGHTDTVCSL	VLLWDIGHGLMVKELKGHTDTVCSL	4.0	4.0	unscreened	Dinucleotide variant, 10:105147384-105147384 G>A, residue 13 G>K PR	3466_10:105147383-105147383 G>A, 10:105147384-105147384 G>A_VLLWDIGHGLMVKELKGHTDTVCSL
1:159825727-159825727 C>T	0.0	3466	MELANOMA	-	-	-	-	VSIG8	ENST00000368100,p.G306D|NM_001013661,p.G306D|uc001fuh.3,p.G306D	protein_coding	uc001fuh.3	nonsynonymous SNV	exon6	c.G917A	p.G306D	SGAGGARGAFGYGNGGGVGGGACGD	SGAGGARGAFGYDNGGGVGGGACGD	1.0	8.0	unscreened	-	3466_1:159825727-159825727 C>T_SGAGGARGAFGYDNGGGVGGGACGD
11:5322273-5322273 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1675765;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	OR51B4	NM_033179,p.R302C|ENST00000380224,p.R302C|uc010qza.2,p.R302C	protein_coding	uc010qza.2	nonsynonymous SNV	exon1	c.C904T	p.R302C	SIKTKQIQRSIIRLFSGQSRA	SIKTKQIQRSIICLFSGQSRA	1.0	8.0	unscreened	-	3466_11:5322273-5322273 G>A_SIKTKQIQRSIICLFSGQSRA
1:110302009-110302009 C>T	0.0	3466	MELANOMA	-	-	-	-	EPS8L3	uc009wfo.2,p.E33K	protein_coding, processed_transcript	uc009wfo.2	nonsynonymous SNV	exon4	c.G97A	p.E33K	TSEPTLLQHRVEEELDSYRLDSIQA	TSEPTLLQHRVEKELDSYRLDSIQA	1.0	2.0	unscreened	-	3466_1:110302009-110302009 C>T_TSEPTLLQHRVEKELDSYRLDSIQA
2:72968540-72968540 G>A	1.0	3466	MELANOMA	-	-	-	-	EXOC6B	ENST00000272427,p.R58C|uc002sij.2,p.R58C|NM_015189,p.R58C|ENST00000410104,p.R58C|uc010fep.3,p.R58C	protein_coding, processed_transcript, nonsense_mediated_decay	uc010fep.3	nonsynonymous SNV	exon2	c.C172T	p.R58C	HGRFMEKLETRIRNHDREIEKMCNF	HGRFMEKLETRICNHDREIEKMCNF	7.0	2.0	-	-	3466_2:72968540-72968540 G>A_HGRFMEKLETRICNHDREIEKMCNF
7:44924376-44924376 T>C	1.0	3466	MELANOMA	-	-	-	-	PURB	uc003tme.3,p.D191G|ENST00000395699,p.D191G|NM_033224,p.D191G	protein_coding	uc003tme.3	nonsynonymous SNV	exon1	c.A572G	p.D191G	LIEFRDALAKLIDDYGGEDDELAGG	LIEFRDALAKLIGDYGGEDDELAGG	9.0	8.0	-	-	3466_7:44924376-44924376 T>C_LIEFRDALAKLIGDYGGEDDELAGG
11:46408074-46408074 C>T	0.0	3466	MELANOMA	-	-	-	-	CHRM4	uc001nct.1,p.G12S|ENST00000433765,p.G12S|NM_000741,p.G12S	protein_coding	uc001nct.1	nonsynonymous SNV	exon1	c.G34A	p.G12S	MANFTPVNGSSGNQSVRLVTSSSH	MANFTPVNGSSSNQSVRLVTSSSH	1.0	2.0	unscreened	-	3466_11:46408074-46408074 C>T_MANFTPVNGSSSNQSVRLVTSSSH
15:40573924-40573924 G>C, 15:40573925-40573925 C>T	0.0	3466	MELANOMA	-	-	-	-	ANKRD63	NM_001190479,p.G288E|ENST00000434396,p.G288E|uc021sjf.1,p.G288E	protein_coding	uc021sjf.1	nonsynonymous SNV	exon1	c.G863A	p.G288E	ALMALPNSPQSSGTGRWRSQEVLEG	ALMALPNSPQSSDTGRWRSQEVLEG	1.0	1.0	unscreened	Dinucleotide variant, 15:40573924-40573924 G>C, residue 13 G>D PR	3466_15:40573924-40573924 G>C, 15:40573925-40573925 C>T_ALMALPNSPQSSDTGRWRSQEVLEG
12:81746983-81746983 G>C	0.0	3466	MELANOMA	-	-	-	-	PPFIA2	ENST00000548586,p.L637V|NM_001220477,p.L563V|ENST00000407050,p.L563V|uc031qik.1,p.L563V|uc031qin.1,p.L619V|uc031qim.1,p.L637V|uc031qii.1,p.L204V|ENST00000553058,p.L218V|NM_001220478,p.L538V|ENST00000550584,p.L637V|uc031qix.1,p.L637V|NM_001220474,p.L619V|uc031qiy.1,p.L637V|uc031qio.1,p.L637V|NM_001220473,p.L637V|uc031qil.1,p.L538V|uc031qiu.1,p.L563V|NM_001220476,p.L637V|ENST00000549325,p.L619V|ENST00000552948,p.L637V|ENST00000541570,p.L204V|uc031qiv.1,p.L538V|NM_001220479,p.L204V|NM_001282536,p.L484V|uc031qiw.1,p.L637V|ENST00000333447,p.L619V|ENST00000443686,p.L538V|uc031qis.1,p.L637V|NM_001220475,p.L637V|NM_003625,p.L637V|ENST00000549396,p.L637V|uc031qiq.1,p.L619V|uc031qih.1,p.L204V|ENST00000550359,p.L484V|uc031qip.1,p.L637V|uc031qir.1,p.L637V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qiy.1	nonsynonymous SNV	exon15	c.C1909G	p.L637V	DDDRETIFSSMDLLSPSGHSDAQTL	DDDRETIFSSMDVLSPSGHSDAQTL	3.0	9.0	unscreened	-	3466_12:81746983-81746983 G>C_DDDRETIFSSMDVLSPSGHSDAQTL
17:1840145-1840145 G>A	0.0	3466	MELANOMA	-	-	-	-	RTN4RL1	uc002ftp.3,p.A324V|ENST00000331238,p.A324V|NM_178568,p.A324V	protein_coding	uc002ftp.3	nonsynonymous SNV	exon2	c.C971T	p.A324V	QIKSHTLTTTDRAARKEHHSPHGPT	QIKSHTLTTTDRVARKEHHSPHGPT	1.0	9.0	unscreened	-	3466_17:1840145-1840145 G>A_QIKSHTLTTTDRVARKEHHSPHGPT
3:149042683-149042683 C>T	0.0	3466	MELANOMA	-	-	-	-	TM4SF18	ENST00000470080,p.E132K|uc021xfl.1,p.E132K|uc003exa.3,p.E132K|NM_138786,p.E132K|ENST00000296059,p.E132K|NM_001184723,p.E132K|ENST00000474754,p.E132K	retained_intron, protein_coding	uc021xfl.1	nonsynonymous SNV	exon3	c.G394A	p.E132K	YCRTLDGWEYAFEGTAGRFLTDSSI	YCRTLDGWEYAFKGTAGRFLTDSSI	3.0	3.0	unscreened	-	3466_3:149042683-149042683 C>T_YCRTLDGWEYAFKGTAGRFLTDSSI
1:223567307-223567307 G>A	0.0	3466	MELANOMA	-	-	-	-	CCDC185	NM_152610,p.E164K|ENST00000366875,p.E164K|uc001hoa.2,p.E164K	protein_coding	uc001hoa.2	nonsynonymous SNV	exon1	c.G490A	p.E164K	GAGTPLSGTFRVEKAQGGDQWAVPL	GAGTPLSGTFRVKKAQGGDQWAVPL	1.0	1.0	unscreened	-	3466_1:223567307-223567307 G>A_GAGTPLSGTFRVKKAQGGDQWAVPL
2:210685365-210685365 G>A	0.0	3466	MELANOMA	-	-	-	-	UNC80	NM_182587,p.G765S|uc010zjc.1,p.G765S|uc021vvx.1,p.G765S|ENST00000439458,p.G765S|ENST00000272845,p.G765S|NM_032504,p.G765S	retained_intron, protein_coding, processed_transcript	uc021vvx.1	nonsynonymous SNV	exon13	c.G2293A	p.G765S	GGGDGGGGGGGGGGPYEKNDKNQEK	GGGDGGGGGGGGSGPYEKNDKNQEK	2.0	1.0	unscreened	-	3466_2:210685365-210685365 G>A_GGGDGGGGGGGGSGPYEKNDKNQEK
6:74107414-74107414 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1081525;OCCURENCE=1(endometrium)	-	DDX43	NM_018665,p.R85C|ENST00000539829,p.R85C|ENST00000370336,p.R85C|uc003pgw.3,p.R85C	retained_intron, protein_coding, processed_transcript	uc003pgw.3	nonsynonymous SNV	exon2	c.C253T	p.R85C	ALKSHFVGAVIGRGGSKIKNIQSTT	ALKSHFVGAVIGCGGSKIKNIQSTT	1.0	9.0	unscreened	-	3466_6:74107414-74107414 C>T_ALKSHFVGAVIGCGGSKIKNIQSTT
5:19483497-19483497 T>C	0.0	3466	MELANOMA	-	-	-	-	CDH18	ENST00000507958,p.T599A|NM_004934,p.T599A|uc003jgc.3,p.T599A|ENST00000382275,p.T599A|NM_001291956,p.T599A|ENST00000274170,p.T599A|uc003jgd.3,p.T599A	protein_coding, processed_transcript	uc003jgd.3	nonsynonymous SNV	exon12	c.A1795G	p.T599A	RVCACERDGRVRTCHAEAFLSSAGL	RVCACERDGRVRACHAEAFLSSAGL	1.0	2.0	unscreened	-	3466_5:19483497-19483497 T>C_RVCACERDGRVRACHAEAFLSSAGL
10:23321808-23321808 G>A	0.0	3466	MELANOMA	-	-	-	-	ARMC3	NM_173081,p.M755I|ENST00000376528,p.M492I|uc001irm.4,p.M755I|ENST00000298032,p.M755I|ENST00000409983,p.M748I|NM_001282747,p.M492I|NM_001282745,p.M748I|uc010qcv.2,p.M748I|uc010qcw.2,p.M492I	protein_coding, processed_transcript	uc010qcw.2	nonsynonymous SNV	exon15	c.G1476A	p.M492I	QIEDLAKYVAEKMGGKIPKEKLPDF	QIEDLAKYVAEKIGGKIPKEKLPDF	1.0	1.0	unscreened	-	3466_10:23321808-23321808 G>A_QIEDLAKYVAEKIGGKIPKEKLPDF
19:19344630-19344630 C>T	0.0	3466	MELANOMA	-	-	-	-	NCAN	uc002nlz.3,p.L1018F|ENST00000538881,p.L469F|NM_004386,p.L1018F|uc010ecc.1,p.L582F|ENST00000252575,p.L1018F	retained_intron, protein_coding	uc010ecc.1	nonsynonymous SNV	exon3	c.C1744T	p.L582F	EVHSDPCENNPCLHGGTCNANGTMY	EVHSDPCENNPCFHGGTCNANGTMY	1.0	1.0	unscreened	-	3466_19:19344630-19344630 C>T_EVHSDPCENNPCFHGGTCNANGTMY
6:12296287-12296287 G>A	0.0	3466	MELANOMA	-	-	-	-	EDN1	NM_001955,p.R209Q|uc003naf.4,p.R208Q|ENST00000379375,p.R209Q|NM_001168319,p.R208Q|uc003nae.4,p.R209Q	protein_coding	uc003naf.4	nonsynonymous SNV	exon5	c.G623A	p.R208Q	GNPSRERYVTHNRAHW	GNPSRERYVTHNQAHW	2.0	8.0	unscreened	Snp within 36 nucleotides, 6:12296255-12296255 G>T, residue 2 G>N PR	3466_6:12296287-12296287 G>A_GNPSRERYVTHNQAHW
11:108385507-108385507 C>T	0.0	3466	MELANOMA	-	-	-	-	EXPH5	ENST00000428840,p.G167S|ENST00000525344,p.G236S|uc010rvz.2,p.G87S|ENST00000443411,p.G55S|uc010rvy.2,p.G55S|ENST00000526312,p.G167S|uc001pkk.3,p.G243S|ENST00000265843,p.G243S|NM_015065,p.G243S|ENST00000533052,p.G55S	protein_coding, processed_transcript	uc010rvz.2	nonsynonymous SNV	exon4	c.G259A	p.G87S	RTPLNYGSRTQFGHFYSSGNRHGNI	RTPLNYGSRTQFSHFYSSGNRHGNI	1.0	5.0	unscreened	-	3466_11:108385507-108385507 C>T_RTPLNYGSRTQFSHFYSSGNRHGNI
7:142566019-142566019 G>A	0.0	3466	MELANOMA	-	-	-	-	EPHB6	uc003wbs.3,p.D355N|uc011ksu.2,p.D647N|uc003wbu.3,p.D355N|uc003wbt.3,p.D121N|uc011kst.2,p.D647N|ENST00000411471,p.D370N|NM_001280795,p.D355N|NM_001280794,p.D355N|ENST00000442129,p.D647N|ENST00000392957,p.D647N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ksu.2	nonsynonymous SNV	exon14	c.G1939A	p.D647N	YSSPGLGVKYYIDPSTYEDPCQAIR	YSSPGLGVKYYINPSTYEDPCQAIR	1.0	9.0	unscreened	-	3466_7:142566019-142566019 G>A_YSSPGLGVKYYINPSTYEDPCQAIR
7:142566019-142566019 G>A	0.0	3466	MELANOMA	-	-	-	-	EPHB6	uc003wbv.3,p.D31N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003wbv.3	nonsynonymous SNV	exon1	c.G91A	p.D31N	HTPPGLGVKYYIDPSTYEDPCQAIR	HTPPGLGVKYYINPSTYEDPCQAIR	1.0	9.0	unscreened	-	3466_7:142566019-142566019 G>A_HTPPGLGVKYYINPSTYEDPCQAIR
2:165948986-165948986 C>T	0.0	3466	MELANOMA	-	-	-	-	SCN3A	NM_001081676,p.D1480N|ENST00000360093,p.D1529N|uc002ucx.3,p.D1529N|uc002ucz.3,p.D1480N|NM_006922,p.D1529N|ENST00000283254,p.D1529N|uc002ucy.3,p.D1480N|ENST00000409101,p.D1480N|NM_001081677,p.D1480N	retained_intron, protein_coding, processed_transcript	uc002ucz.3	nonsynonymous SNV	exon27	c.G4438A	p.D1480N	GMVFDFVTRQVFDISIMILICLNMV	GMVFDFVTRQVFNISIMILICLNMV	1.0	7.0	unscreened	-	3466_2:165948986-165948986 C>T_GMVFDFVTRQVFNISIMILICLNMV
8:103564010-103564010 G>A	0.0	3466	MELANOMA	-	-	-	-	ODF1	uc003ykt.2,p.D19N|ENST00000285402,p.D19N|NM_024410,p.D19N	protein_coding	uc003ykt.2	nonsynonymous SNV	exon1	c.G55A	p.D19N	LLDSVRRDIKKVDRELRQLRCIDEF	LLDSVRRDIKKVNRELRQLRCIDEF	1.0	9.0	unscreened	-	3466_8:103564010-103564010 G>A_LLDSVRRDIKKVNRELRQLRCIDEF
11:114401230-114401230 C>T	0.0	3466	MELANOMA	-	-	-	-	NXPE1	uc001ppa.3,p.S25N|NM_152315,p.S25N|ENST00000424269,p.S167N|ENST00000251921,p.S25N|ENST00000536312,p.S167N|uc001ppb.1,p.S167N	protein_coding	uc001ppb.1	nonsynonymous SNV	exon6	c.G500A	p.S167N	KVMDFNNGTYLVSFTLFWEGQVSLS	KVMDFNNGTYLVNFTLFWEGQVSLS	1.0	6.0	unscreened	-	3466_11:114401230-114401230 C>T_KVMDFNNGTYLVNFTLFWEGQVSLS
19:46254035-46254035 G>A	0.0	3466	MELANOMA	-	-	-	-	BHMG1	uc021uwa.1,p.G90R|ENST00000457052,p.G137R	protein_coding	uc021uwa.1	nonsynonymous SNV	exon3	c.G268A	p.G90R	ALFKCHITTGEGGLAGLGQKPAWGP	ALFKCHITTGEGRLAGLGQKPAWGP	1.0	4.0	unscreened	-	3466_19:46254035-46254035 G>A_ALFKCHITTGEGRLAGLGQKPAWGP
11:124056493-124056493 G>A	0.0	3466	MELANOMA	-	-	-	-	VWA5A,OR8G2	ENST00000318666,p.E173K|uc001pzv.2,p.E173K	protein_coding	uc001pzv.2	nonsynonymous SNV	exon1	c.G517A	p.E173K	SLTFTLPYCGPNEVDHFFCDIPALL	SLTFTLPYCGPNKVDHFFCDIPALL	1.0	5.0	unscreened	-	3466_11:124056493-124056493 G>A_SLTFTLPYCGPNKVDHFFCDIPALL
17:43246544-43246544 C>T	1.0	3466	MELANOMA	-	-	-	-	HEXIM2	ENST00000307275,p.P77S|ENST00000593138,p.P77S|ENST00000592695,p.P77S|ENST00000591576,p.P77S|ENST00000589230,p.P77S|NM_144608,p.P77S|uc010daf.1,p.P99S|ENST00000585340,p.P99S|ENST00000586681,p.P77S|uc002iih.1,p.P77S|uc002iii.1,p.P77S|uc002iij.1,p.P77S	protein_coding	uc010daf.1	nonsynonymous SNV	exon3	c.C295T	p.P99S	LGWNSRSPRTQSPGGCSAEAVLARK	LGWNSRSPRTQSSGGCSAEAVLARK	5.0	9.0	unscreened	-	3466_17:43246544-43246544 C>T_LGWNSRSPRTQSSGGCSAEAVLARK
1:43652406-43652406 C>T	0.0	3466	MELANOMA	-	-	-	-	CFAP57	uc010ojz.2,p.P322L|NM_001195831,p.P333L|ENST00000372492,p.P333L|uc021omk.1,p.P333L|uc001ciq.2,p.P333L|NM_001167965,p.P333L|NM_152498,p.P333L|ENST00000528956,p.P333L|uc001cip.2,p.P333L	retained_intron, protein_coding, nonsense_mediated_decay	uc021omk.1	nonsynonymous SNV	exon6	c.C998T	p.P333L	EIRIPVDPQSNDPSQSDKQDVLCLC	EIRIPVDPQSNDLSQSDKQDVLCLC	2.0	2.0	unscreened	-	3466_1:43652406-43652406 C>T_EIRIPVDPQSNDLSQSDKQDVLCLC
19:40360980-40360980 C>T, 19:40360981-40360981 C>T	0.0	3466	MELANOMA	-	-	-	-	FCGBP	uc002omp.4,p.G5143D|ENST00000221347,p.G5143D|NM_003890,p.G5143D	protein_coding, processed_transcript	uc002omp.4	nonsynonymous SNV	exon33	c.G15428A	p.G5143D	TRTCQGSCAALSGLTGCTTRCFEGC	TRTCQGSCAALSNLTGCTTRCFEGC	3.0	2.0	unscreened	Dinucleotide variant, 19:40360981-40360981 C>T, residue 13 G>N PR	3466_19:40360980-40360980 C>T, 19:40360981-40360981 C>T_TRTCQGSCAALSNLTGCTTRCFEGC
12:7805379-7805379 G>A	0.0	3466	MELANOMA	-	-	ID=COSM695009;OCCURENCE=1(lung),1(endometrium)	-	APOBEC1	uc001qtb.3,p.R33C|NM_001644,p.R33C|ENST00000229304,p.R33C	protein_coding, nonsense_mediated_decay	uc001qtb.3	nonsynonymous SNV	exon3	c.C97T	p.R33C	WEFDVFYDPRELRKEACLLYEIKWG	WEFDVFYDPRELCKEACLLYEIKWG	1.0	4.0	unscreened	-	3466_12:7805379-7805379 G>A_WEFDVFYDPRELCKEACLLYEIKWG
5:79029596-79029596 G>A	0.0	3466	MELANOMA	-	-	-	-	CMYA5	ENST00000446378,p.E1670K|uc003kgc.3,p.E1670K|NM_153610,p.E1670K	retained_intron, protein_coding, processed_transcript	uc003kgc.3	nonsynonymous SNV	exon2	c.G5008A	p.E1670K	KSPITETEDSVSEKGPAELRSREGK	KSPITETEDSVSKKGPAELRSREGK	3.0	9.0	unscreened	Snp within 36 nucleotides, 5:79029594-79029594 T>C, residue 12 L>S PR	3466_5:79029596-79029596 G>A_KSPITETEDSVSKKGPAELRSREGK
7:119914790-119914790 G>A	0.0	3466	MELANOMA	-	-	-	-	KCND2	NM_012281,p.R35K|ENST00000331113,p.R35K|uc003vjj.1,p.R35K	retained_intron, protein_coding	uc003vjj.1	nonsynonymous SNV	exon1	c.G104A	p.R35K	ASGPMPAPPRQERKRTQDALIVLNV	ASGPMPAPPRQEKKRTQDALIVLNV	1.0	1.0	unscreened	-	3466_7:119914790-119914790 G>A_ASGPMPAPPRQEKKRTQDALIVLNV
15:45403698-45403698 C>T	0.0	3466	MELANOMA	-	-	-	-	DUOX2	uc001zun.3,p.G200E|ENST00000389039,p.G200E|uc010bea.3,p.G200E|ENST00000603300,p.G200E|NM_014080,p.G200E	retained_intron, protein_coding	uc010bea.3	nonsynonymous SNV	exon6	c.G599A	p.G200E	SHSWSDALRSFSGGQLASGPDPAFP	SHSWSDALRSFSEGQLASGPDPAFP	1.0	8.0	unscreened	-	3466_15:45403698-45403698 C>T_SHSWSDALRSFSEGQLASGPDPAFP
17:42455873-42455873 C>T	0.0	3466	MELANOMA	-	-	-	-	ITGA2B	ENST00000353281,p.G651S|uc002igu.1,p.G132S|NM_000419,p.G651S|uc002igt.1,p.G651S|ENST00000262407,p.G651S	retained_intron, protein_coding	uc002igu.1	nonsynonymous SNV	exon8	c.G394A	p.G132S	CVPQLQLTASVTGSPLLVGADNVLE	CVPQLQLTASVTSSPLLVGADNVLE	1.0	9.0	unscreened	-	3466_17:42455873-42455873 C>T_CVPQLQLTASVTSSPLLVGADNVLE
2:228172567-228172567 T>C	0.0	3466	MELANOMA	-	-	-	-	COL4A3	NM_000091,p.V1465A|uc002vom.2,p.V1465A|ENST00000396578,p.V1465A	retained_intron, protein_coding, processed_transcript	uc002vom.2	nonsynonymous SNV	exon48	c.T4394C	p.V1465A	QTTAIPSCPEGTVPLYSGFSFLFVQ	QTTAIPSCPEGTAPLYSGFSFLFVQ	1.0	8.0	unscreened	-	3466_2:228172567-228172567 T>C_QTTAIPSCPEGTAPLYSGFSFLFVQ
8:39564406-39564406 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1700007;OCCURENCE=2(skin)	-	ADAM18	ENST00000541111,p.G81E|uc010lwx.3,p.G643E|ENST00000265707,p.G667E|NM_014237,p.G667E|ENST00000379866,p.G643E|uc003xni.3,p.G667E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lwx.3	nonsynonymous SNV	exon17	c.G1928A	p.G643E	FQFGSPGGSIDDGNFQKSGDFYTEK	FQFGSPGGSIDDENFQKSGDFYTEK	1.0	9.0	unscreened	-	3466_8:39564406-39564406 G>A_FQFGSPGGSIDDENFQKSGDFYTEK
2:188245213-188245213 T>G	0.0	3466	MELANOMA	-	-	-	-	CALCRL	NM_005795,p.N130T|uc002upv.5,p.N130T|uc010frt.4,p.N130T|ENST00000392370,p.N130T|ENST00000410068,p.N130T|ENST00000409998,p.N130T|NM_001271751,p.N130T	retained_intron, protein_coding, processed_transcript	uc010frt.4	nonsynonymous SNV	exon6	c.A389C	p.N130T	NRTWTNYTQCNVNTHEKVKTALNLF	NRTWTNYTQCNVTTHEKVKTALNLF	5.0	6.0	unscreened	-	3466_2:188245213-188245213 T>G_NRTWTNYTQCNVTTHEKVKTALNLF
X:18348772-18348772 G>A	0.0	3466	MELANOMA	-	-	-	-	SCML2	uc010nfd.1,p.S9F|NM_006089,p.S9F|ENST00000251900,p.S9F|uc004cyl.2,p.S9F	protein_coding, processed_transcript	uc010nfd.1	nonsynonymous SNV	exon3	c.C26T	p.S9F	MGQTVNEDSMDVKKENQEKTP	MGQTVNEDFMDVKKENQEKTP	1.0	9.0	unscreened	-	3466_X:18348772-18348772 G>A_MGQTVNEDFMDVKKENQEKTP
2:234698179-234698179 C>T	0.0	3466	MELANOMA	-	-	-	-	MROH2A	ENST00000389758,p.L105F|NM_001287395,p.L105F	retained_intron, protein_coding, processed_transcript	NM_001287395	nonsynonymous SNV	exon4	c.C313T	p.L105F	ISTQRKVNIYNILQDIIQQEGELEE	ISTQRKVNIYNIFQDIIQQEGELEE	1.0	2.0	unscreened	-	3466_2:234698179-234698179 C>T_ISTQRKVNIYNIFQDIIQQEGELEE
12:57865437-57865437 G>A	0.0	3466	MELANOMA	-	-	-	2	GLI1	ENST00000228682,p.E972K|uc021qzi.1,p.E931K|ENST00000528467,p.E931K|NM_001167609,p.E931K|ENST00000546141,p.E931K|ENST00000543426,p.E844K|uc009zpq.3,p.E844K|NM_005269,p.E972K|uc001snx.3,p.E972K|NM_001160045,p.E844K	retained_intron, protein_coding	uc021qzi.1	nonsynonymous SNV	exon11	c.G2791A	p.E931K	KSGSYPTPSPCHENFVVGANRASHR	KSGSYPTPSPCHKNFVVGANRASHR	1.0	9.0	unscreened	-	3466_12:57865437-57865437 G>A_KSGSYPTPSPCHKNFVVGANRASHR
6:76660322-76660322 C>T	0.0	3466	MELANOMA	-	-	-	-	IMPG1	uc003pik.1,p.S594N|NM_001282368,p.S516N|ENST00000369950,p.S594N|NM_001563,p.S594N	protein_coding	uc003pik.1	nonsynonymous SNV	exon13	c.G1781A	p.S594N	ANMAFSNDLFNKSSLEYRALEQQFT	ANMAFSNDLFNKNSLEYRALEQQFT	2.0	9.0	unscreened	-	3466_6:76660322-76660322 C>T_ANMAFSNDLFNKNSLEYRALEQQFT
3:24206743-24206743 C>T	0.0	3466	MELANOMA	-	-	-	-	LOC101927854	ENST00000280696,p.G35S|uc003cda.1,p.G35S	protein_coding	uc003cda.1	nonsynonymous SNV	exon1	c.G103A	p.G35S	STDYYAYFEDSPGYSGCDAQAVPSN	STDYYAYFEDSPSYSGCDAQAVPSN	2.0	4.0	unscreened	-	3466_3:24206743-24206743 C>T_STDYYAYFEDSPSYSGCDAQAVPSN
12:81647134-81647134 G>A	0.0	3466	MELANOMA	-	-	-	-	ACSS3	uc001szm.1,p.E589K|ENST00000261206,p.E589K|NM_024560,p.E590K|uc001szl.1,p.E590K|uc001szn.1,p.E272K|ENST00000548324,p.E272K|ENST00000548058,p.E590K	retained_intron, protein_coding, nonsense_mediated_decay	uc001szn.1	nonsynonymous SNV	exon9	c.G814A	p.E272K	HGTVADCAVVGKEDPLKGHVPLALC	HGTVADCAVVGKKDPLKGHVPLALC	3.0	9.0	unscreened	-	3466_12:81647134-81647134 G>A_HGTVADCAVVGKKDPLKGHVPLALC
1:110302009-110302009 C>T	0.0	3466	MELANOMA	-	-	-	-	EPS8L3	NM_139053,p.E86K|uc001dyr.2,p.E86K|NM_024526,p.E86K|uc001dyq.2,p.E86K|ENST00000361852,p.E86K|ENST00000369805,p.E86K|uc009wfn.2,p.E52K|NM_133181,p.E86K|ENST00000361965,p.E86K|uc001dys.2,p.E86K|uc009wfm.2,p.E52K	protein_coding, processed_transcript	uc009wfn.2	nonsynonymous SNV	exon5	c.G154A	p.E52K	DGWLQLLDIETKEELDSYRLDSIQA	DGWLQLLDIETKKELDSYRLDSIQA	1.0	2.0	unscreened	-	3466_1:110302009-110302009 C>T_DGWLQLLDIETKKELDSYRLDSIQA
11:1265717-1265717 G>A	0.0	3466	MELANOMA	-	-	-	-	MUC5B	NM_002458,p.S2536N|ENST00000447027,p.S2539N|uc001lta.3,p.S2536N|ENST00000529681,p.S2536N	retained_intron, protein_coding, processed_transcript	uc001lta.3	nonsynonymous SNV	exon31	c.G7607A	p.S2536N	ALRSTATTPTATSFTAIPSSSLGTT	ALRSTATTPTATNFTAIPSSSLGTT	5.0	8.0	unscreened	-	3466_11:1265717-1265717 G>A_ALRSTATTPTATNFTAIPSSSLGTT
1:155257853-155257853 C>T	0.0	3466	MELANOMA	-	-	-	-	HCN3	uc010pfz.2,p.L337F|uc001fjz.2,p.L642F|ENST00000368358,p.L642F|NM_020897,p.L642F	protein_coding, processed_transcript	uc010pfz.2	nonsynonymous SNV	exon8	c.C1009T	p.L337F	PLPLSPDSPATLLARSAWRSAGSPA	PLPLSPDSPATLFARSAWRSAGSPA	4.0	7.0	unscreened	-	3466_1:155257853-155257853 C>T_PLPLSPDSPATLFARSAWRSAGSPA
12:11506936-11506936 C>T	0.0	3466	MELANOMA	-	-	-	-	PRB1	ENST00000545626,p.G34E|uc001qzw.1,p.G34E|ENST00000500254,p.G34E|ENST00000546254,p.G34E|NM_199353,p.G34E|uc001qzu.1,p.G34E|uc001qzv.1,p.G34E|NM_199354,p.G34E	retained_intron, protein_coding	uc001qzw.1	nonsynonymous SNV	exon3	c.G101A	p.G34E	DVSQEESPSLIAGNPQGPSPQGGNK	DVSQEESPSLIAENPQGPSPQGGNK	1.0	2.0	unscreened	-	3466_12:11506936-11506936 C>T_DVSQEESPSLIAENPQGPSPQGGNK
16:855582-855582 G>A	0.0	3466	MELANOMA	-	-	-	-	PRR25	NM_001013638,p.G47E|ENST00000301698,p.G47E|uc010uut.2,p.G47E	protein_coding	uc010uut.2	nonsynonymous SNV	exon1	c.G140A	p.G47E	MGHRPRTCILLRGDQTTGGQAPSRE	MGHRPRTCILLREDQTTGGQAPSRE	1.0	1.0	unscreened	-	3466_16:855582-855582 G>A_MGHRPRTCILLREDQTTGGQAPSRE
1:43650980-43650980 G>A	0.0	3466	MELANOMA	-	-	-	-	CFAP57	uc010ojz.2,p.E297K|ENST00000372492,p.E308K|uc001ciq.2,p.E308K|NM_152498,p.E308K|uc021omk.1,p.E308K|NM_001167965,p.E308K|ENST00000528956,p.E308K|uc001cip.2,p.E308K|NM_001195831,p.E308K	retained_intron, protein_coding, nonsense_mediated_decay	uc021omk.1	nonsynonymous SNV	exon5	c.G922A	p.E308K	ACSAGPGRVLLFEKMEEKDFYRESR	ACSAGPGRVLLFKKMEEKDFYRESR	2.0	1.0	unscreened	-	3466_1:43650980-43650980 G>A_ACSAGPGRVLLFKKMEEKDFYRESR
7:23776524-23776524 G>A	0.0	3466	MELANOMA	-	-	-	-	STK31	NM_031414,p.E282K|uc003sws.5,p.E282K|ENST00000433467,p.E282K|ENST00000428484,p.E259K|ENST00000355870,p.E282K|NM_001260504,p.E259K|NM_032944,p.E259K|uc011jze.3,p.E282K|uc031swr.1,p.E259K|ENST00000354639,p.E259K|uc010kuq.4,p.E259K|NM_001260505,p.E282K|uc003swt.5,p.E259K	retained_intron, protein_coding, processed_transcript	uc031swr.1	nonsynonymous SNV	exon8	c.G775A	p.E259K	ENDAGNLITFPKESLAVGDFNLGSN	ENDAGNLITFPKKSLAVGDFNLGSN	1.0	9.0	unscreened	-	3466_7:23776524-23776524 G>A_ENDAGNLITFPKKSLAVGDFNLGSN
5:42718672-42718672 G>A	0.0	3466	MELANOMA	-	-	-	-	GHR	NM_001242406,p.E355K|uc021xxw.1,p.E355K|NM_000163,p.E355K|NM_001242404,p.E355K|ENST00000537449,p.E168K|uc003jmu.3,p.E355K|NM_001242402,p.E355K|NM_001242400,p.E355K|uc021xya.1,p.E355K|NM_001242403,p.E355K|ENST00000357703,p.E333K|uc021xxy.1,p.E355K|NM_001242405,p.E355K|NM_001242399,p.E362K|uc003jmt.3,p.E355K|uc003jmv.2,p.E355K|ENST00000230882,p.E355K|uc021xxz.1,p.E355K|uc011cpq.2,p.E168K|uc021xyd.1,p.E333K|NM_001242401,p.E355K|NM_001242460,p.E333K|uc021xxx.1,p.E355K|uc021xxv.1,p.E362K	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xyd.1	nonsynonymous SNV	exon8	c.G997A	p.E333K	VEFIELDIDEPDEKTEESDTDRLLS	VEFIELDIDEPDKKTEESDTDRLLS	2.0	1.0	unscreened	-	3466_5:42718672-42718672 G>A_VEFIELDIDEPDKKTEESDTDRLLS
12:18854530-18854530 C>T	0.0	3466	MELANOMA	-	-	-	-	PLCZ1	ENST00000538330,p.E90K|uc001rdu.2,p.E90K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rdu.2	nonsynonymous SNV	exon5	c.G268A	p.E90K	EEEEEEEEDKFKESEVLESVLGDNQ	EEEEEEEEDKFKKSEVLESVLGDNQ	1.0	6.0	unscreened	-	3466_12:18854530-18854530 C>T_EEEEEEEEDKFKKSEVLESVLGDNQ
2:230456314-230456314 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1669830;OCCURENCE=2(skin),3(haematopoietic_and_lymphoid_tissue)	-	DNER	uc002vpv.3,p.M189I|ENST00000341772,p.M189I|NM_139072,p.M189I	protein_coding, processed_transcript	uc002vpv.3	nonsynonymous SNV	exon2	c.G567A	p.M189I	TWQPKTGQKVVEMKWDQVEVIPDIA	TWQPKTGQKVVEIKWDQVEVIPDIA	1.0	7.0	unscreened	-	3466_2:230456314-230456314 C>T_TWQPKTGQKVVEIKWDQVEVIPDIA
7:82545855-82545855 C>T	0.0	3466	MELANOMA	-	-	-	-	PCLO	ENST00000437081,p.R536K|uc003uhx.2,p.R3816K|ENST00000333891,p.R3816K|NM_033026,p.R3816K|uc010lec.3,p.R781K|ENST00000423517,p.R3816K|NM_014510,p.R3816K|uc003uhv.2,p.R3816K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lec.3	nonsynonymous SNV	exon2	c.G2342A	p.R781K	GINRRKEALLKEREKRERAYLQGVA	GINRRKEALLKEKEKRERAYLQGVA	1.0	1.0	unscreened	-	3466_7:82545855-82545855 C>T_GINRRKEALLKEKEKRERAYLQGVA
1:155837962-155837962 G>A	1.0	3466	MELANOMA	-	-	-	-	SYT11	NM_152280,p.D81N|ENST00000368324,p.D81N|uc001fmg.3,p.D81N	protein_coding	uc001fmg.3	nonsynonymous SNV	exon2	c.G241A	p.D81N	LSNKKKIIKVRRDKDGPGREGGRRN	LSNKKKIIKVRRNKDGPGREGGRRN	10.0	2.0	-	-	3466_1:155837962-155837962 G>A_LSNKKKIIKVRRNKDGPGREGGRRN
11:4598983-4598983 C>T	0.0	3466	MELANOMA	-	-	-	-	C11orf40	NM_144663,p.R23K|uc010qyg.2,p.R23K|ENST00000307616,p.R23K	protein_coding	uc010qyg.2	nonsynonymous SNV	exon1	c.G68A	p.R23K	EREPKLSILQMDRGDPQHSSHWCPE	EREPKLSILQMDKGDPQHSSHWCPE	1.0	1.0	unscreened	-	3466_11:4598983-4598983 C>T_EREPKLSILQMDKGDPQHSSHWCPE
15:35084474-35084474 C>T	0.0	3466	MELANOMA	-	-	-	-	ACTC1	NM_005159,p.E209K|uc001ziu.1,p.E209K|ENST00000290378,p.E209K	retained_intron, protein_coding, processed_transcript	uc001ziu.1	nonsynonymous SNV	exon5	c.G625A	p.E209K	ERGYSFVTTAEREIVRDIKEKLCYV	ERGYSFVTTAERKIVRDIKEKLCYV	6.0	8.0	unscreened	-	3466_15:35084474-35084474 C>T_ERGYSFVTTAERKIVRDIKEKLCYV
17:34072291-34072291 G>A	0.0	3466	MELANOMA	-	-	-	-	GAS2L2	uc002hjv.2,p.S742L|NM_139285,p.S742L|ENST00000254466,p.S742L|ENST00000587565,p.S726L	protein_coding	uc002hjv.2	nonsynonymous SNV	exon6	c.C2225T	p.S742L	STVSASPEAPTPSPLDPNSDKAKAC	STVSASPEAPTPLPLDPNSDKAKAC	1.0	9.0	unscreened	-	3466_17:34072291-34072291 G>A_STVSASPEAPTPLPLDPNSDKAKAC
1:116932136-116932136 T>C	1.0	3466	MELANOMA	-	-	-	1	ATP1A1	NM_001160233,p.L277P|uc010owv.1,p.L246P|uc010owx.2,p.L246P|uc010oww.2,p.L277P|NM_000701,p.L277P|ENST00000369496,p.L246P|ENST00000295598,p.L277P|ENST00000537345,p.L277P|uc001ege.3,p.L277P|NM_001160234,p.L246P	retained_intron, protein_coding, processed_transcript	uc010owx.2	nonsynonymous SNV	exon8	c.T737C	p.L246P	TVMGRIATLASGLEGGQTPIAAEIE	TVMGRIATLASGPEGGQTPIAAEIE	10.0	7.0	-	-	3466_1:116932136-116932136 T>C_TVMGRIATLASGPEGGQTPIAAEIE
5:13901570-13901570 G>A	0.0	3466	MELANOMA	-	-	-	-	DNAH5	NM_001369,p.P615S|ENST00000265104,p.P615S|uc003jfd.2,p.P615S	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon14	c.C1843T	p.P615S	ISKLYTKQKYDPPLARNQPPIAGKI	ISKLYTKQKYDPSLARNQPPIAGKI	1.0	2.0	unscreened	-	3466_5:13901570-13901570 G>A_ISKLYTKQKYDPSLARNQPPIAGKI
12:78516204-78516204 G>A	1.0	3466	MELANOMA	-	-	-	-	NAV3	uc010sub.2,p.E912K|ENST00000550788,p.E55K	retained_intron, protein_coding, processed_transcript	uc010sub.2	nonsynonymous SNV	exon8	c.G2734A	p.E912K	LMRTGSVRSTLSERYTPSSRQANQE	LMRTGSVRSTLSKRYTPSSRQANQE	7.0	9.0	unscreened	-	3466_12:78516204-78516204 G>A_LMRTGSVRSTLSKRYTPSSRQANQE
2:179664416-179664416 C>T	0.0	3466	MELANOMA	-	-	-	-	TTN	ENST00000342175,p.E238K|ENST00000359218,p.E238K|uc031rqd.1,p.E238K|uc021vsz.2,p.E238K|NM_003319,p.E238K|ENST00000360870,p.E238K|NM_001256850,p.E238K|NM_133379,p.E238K|uc021vtb.2,p.E238K|ENST00000342992,p.E238K|uc021vta.2,p.E238K|ENST00000589042,p.E238K|NM_133432,p.E238K|NM_133437,p.E238K|uc031rqc.1,p.E238K|ENST00000591111,p.E238K|uc021vsy.2,p.E238K|uc002unb.3,p.E238K|NM_133378,p.E238K|uc002und.3,p.E238K|NM_001267550,p.E238K|ENST00000460472,p.E238K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon6	c.G712A	p.E238K	EAHFDARSIATVEMVIDGAAGQQLP	EAHFDARSIATVKMVIDGAAGQQLP	5.0	7.0	unscreened	-	3466_2:179664416-179664416 C>T_EAHFDARSIATVKMVIDGAAGQQLP
2:133541031-133541031 G>A	0.0	3466	MELANOMA	-	-	-	-	NCKAP5	NM_207363,p.S1118F|ENST00000409261,p.S1118F|ENST00000317721,p.S1118F|uc002ttp.3,p.S1118F	protein_coding, processed_transcript	uc002ttp.3	nonsynonymous SNV	exon14	c.C3353T	p.S1118F	GVNESPSSQVSSSSSSSSPAKSHNS	GVNESPSSQVSSFSSSSSPAKSHNS	2.0	8.0	unscreened	-	3466_2:133541031-133541031 G>A_GVNESPSSQVSSFSSSSSPAKSHNS
10:101563789-101563789 C>T	0.0	3466	MELANOMA	-	-	-	-	ABCC2	uc001kqf.2,p.S408F|ENST00000370449,p.S408F|NM_000392,p.S408F	protein_coding, processed_transcript	uc001kqf.2	nonsynonymous SNV	exon10	c.C1223T	p.S408F	IMASVYKKALTLSNLARKEYTVGET	IMASVYKKALTLFNLARKEYTVGET	1.0	3.0	unscreened	-	3466_10:101563789-101563789 C>T_IMASVYKKALTLFNLARKEYTVGET
2:179427469-179427469 T>C	0.0	3466	MELANOMA	-	-	-	-	TTN	NM_133432,p.K18857R|ENST00000591111,p.K26156R|NM_001256850,p.K26156R|uc031rqc.1,p.K27797R|ENST00000460472,p.K18732R|uc021vsz.2,p.K18924R|ENST00000359218,p.K18857R|NM_001267550,p.K27797R|NM_133378,p.K25229R|ENST00000342175,p.K18924R|NM_133437,p.K18924R|uc021vsy.2,p.K25229R|NM_003319,p.K18732R|uc031rqd.1,p.K26156R|ENST00000589042,p.K27797R|uc021vta.2,p.K18857R|ENST00000342992,p.K25229R|uc021vtb.2,p.K18732R	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon276	c.A78467G	p.K26156R	LSWEPPLIDGGAKITNYIVEKRETT	LSWEPPLIDGGARITNYIVEKRETT	5.0	2.0	unscreened	-	3466_2:179427469-179427469 T>C_LSWEPPLIDGGARITNYIVEKRETT
12:13717520-13717520 C>T	0.0	3466	MELANOMA	-	-	-	-	GRIN2B	NM_000834,p.M884I|ENST00000279593,p.M884I|uc001rbt.2,p.M884I	protein_coding	uc001rbt.2	nonsynonymous SNV	exon13	c.G2652A	p.M884I	IHGVAIEERQSVMNSPTATMNNTHS	IHGVAIEERQSVINSPTATMNNTHS	1.0	4.0	unscreened	-	3466_12:13717520-13717520 C>T_IHGVAIEERQSVINSPTATMNNTHS
11:123887023-123887023 C>T	0.0	3466	MELANOMA	-	-	-	-	OR10G4	uc010sac.2,p.L248F|NM_001004462,p.L248F|ENST00000320891,p.L248F	protein_coding	uc010sac.2	nonsynonymous SNV	exon1	c.C742T	p.L248F	AFQTCASHCIVVLCFFVPCVVIYLR	AFQTCASHCIVVFCFFVPCVVIYLR	1.0	4.0	unscreened	-	3466_11:123887023-123887023 C>T_AFQTCASHCIVVFCFFVPCVVIYLR
12:15103624-15103624 G>A	0.0	3466	MELANOMA	-	-	-	-	ARHGDIB	uc001rcq.1,p.P8L|ENST00000545895,p.P8L|ENST00000541644,p.P8L|NM_001175,p.P8L|ENST00000542276,p.P8L|ENST00000541546,p.P8L|ENST00000228945,p.P8L|ENST00000541380,p.P8L	retained_intron, protein_coding, processed_transcript	uc001rcq.1	nonsynonymous SNV	exon2	c.C23T	p.P8L	MTEKAPEPHVEEDDDDELDS	MTEKAPELHVEEDDDDELDS	10.0	5.0	unscreened	-	3466_12:15103624-15103624 G>A_MTEKAPELHVEEDDDDELDS
21:31045377-31045377 C>T	0.0	3466	MELANOMA	-	-	-	-	GRIK1	uc002ynn.3,p.E218K|ENST00000399914,p.E218K|uc002yno.1,p.E218K|uc010glq.1,p.E76K|ENST00000399909,p.E218K|ENST00000535441,p.E218K|NM_000830,p.E218K|ENST00000327783,p.E218K|ENST00000389125,p.E218K|ENST00000399913,p.E218K|NM_175611,p.E218K|ENST00000399907,p.E218K|ENST00000309434,p.E218K|uc011acs.2,p.E218K|uc002ynr.3,p.E218K|uc011act.2,p.E162K|ENST00000389124,p.E218K	protein_coding, processed_transcript	uc011act.2	nonsynonymous SNV	exon3	c.G484A	p.E162K	PSGNKDAKPLLKEMKKGKEFYVIFD	PSGNKDAKPLLKKMKKGKEFYVIFD	1.0	1.0	unscreened	-	3466_21:31045377-31045377 C>T_PSGNKDAKPLLKKMKKGKEFYVIFD
3:121647934-121647934 G>A	0.0	3466	MELANOMA	-	-	-	-	SLC15A2	NM_001145998,p.E452K|NM_021082,p.E483K|ENST00000295605,p.E452K|uc011bjn.1,p.E452K|uc003eep.2,p.E483K|ENST00000489711,p.E483K	protein_coding, processed_transcript	uc011bjn.1	nonsynonymous SNV	exon15	c.G1354A	p.E452K	HNLSLYTEHSVQEKNWYSLVIREDG	HNLSLYTEHSVQKKNWYSLVIREDG	2.0	5.0	unscreened	-	3466_3:121647934-121647934 G>A_HNLSLYTEHSVQKKNWYSLVIREDG
1:6188907-6188907 C>T	0.0	3466	MELANOMA	-	-	-	-	CHD5	uc001alz.2,p.D61N|NM_015557,p.D1204N|ENST00000378021,p.D61N|uc001amb.2,p.D1204N|ENST00000262450,p.D1204N	protein_coding, nonsense_mediated_decay	uc001amb.2	nonsynonymous SNV	exon23	c.G3610A	p.D1204N	ILKFGTEELFKDDVEGMMSQGQRPV	ILKFGTEELFKDNVEGMMSQGQRPV	1.0	8.0	unscreened	-	3466_1:6188907-6188907 C>T_ILKFGTEELFKDNVEGMMSQGQRPV
12:80935999-80935999 G>A	0.0	3466	MELANOMA	-	-	-	-	PTPRQ	ENST00000266688,p.E1189K	retained_intron, protein_coding, processed_transcript	ENST00000266688	nonsynonymous SNV	exon27	c.G3565A	p.E1189K	IISYDLTLQGPNENYSFITSDNYII	IISYDLTLQGPNKNYSFITSDNYII	1.0	9.0	unscreened	-	3466_12:80935999-80935999 G>A_IISYDLTLQGPNKNYSFITSDNYII
3:432711-432711 C>T	0.0	3466	MELANOMA	-	-	-	-	CHL1	NM_006614,p.S887L|ENST00000397491,p.S871L|uc003bot.3,p.S887L|uc011asi.2,p.S887L|uc003bou.3,p.S871L|uc003bow.2,p.S871L|ENST00000256509,p.S887L|NM_001253388,p.S887L|NM_001253387,p.S871L	protein_coding, processed_transcript, nonsense_mediated_decay	uc011asi.2	nonsynonymous SNV	exon20	c.C2660T	p.S887L	RTHPKEVNILRFSGQRNSGMVPSLD	RTHPKEVNILRFLGQRNSGMVPSLD	2.0	6.0	unscreened	-	3466_3:432711-432711 C>T_RTHPKEVNILRFLGQRNSGMVPSLD
1:201178993-201178993 G>A	0.0	3466	MELANOMA	-	-	-	-	IGFN1	NM_001164586,p.D1658N|uc001gwc.3,p.D1658N|ENST00000335211,p.D1658N	retained_intron, protein_coding, nonsense_mediated_decay	uc001gwc.3	nonsynonymous SNV	exon12	c.G4972A	p.D1658N	KGIGSGSKAGFRDGLGSSGEMGSMD	KGIGSGSKAGFRNGLGSSGEMGSMD	3.0	3.0	unscreened	-	3466_1:201178993-201178993 G>A_KGIGSGSKAGFRNGLGSSGEMGSMD
13:36744922-36744922 G>A	0.0	3466	MELANOMA	-	-	-	-	CCDC169-SOHLH2,SOHLH2	ENST00000554962,p.P412S|uc001uvj.3,p.P335S|NM_001198910,p.P412S|NM_017826,p.P335S|ENST00000511166,p.P412S|ENST00000379881,p.P335S|uc010tei.2,p.P412S	protein_coding	uc010tei.2	nonsynonymous SNV	exon15	c.C1234T	p.P412S	DAESSLDEAVRVPSSSASENAIGDP	DAESSLDEAVRVSSSSASENAIGDP	1.0	9.0	unscreened	-	3466_13:36744922-36744922 G>A_DAESSLDEAVRVSSSSASENAIGDP
20:57829554-57829554 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1734961;OCCURENCE=1(pancreas)	-	ZNF831	NM_178457,p.G1597E|uc002yan.3,p.G1597E|ENST00000371030,p.G1597E	protein_coding	uc002yan.3	nonsynonymous SNV	exon5	c.G4790A	p.G1597E	RHKTFFPSRGQYGCGEMTVPCPSLG	RHKTFFPSRGQYECGEMTVPCPSLG	2.0	3.0	unscreened	-	3466_20:57829554-57829554 G>A_RHKTFFPSRGQYECGEMTVPCPSLG
2:196723519-196723519 C>T	0.0	3466	MELANOMA	-	-	-	-	DNAH7	NM_018897,p.M2582I|uc002utj.4,p.M2582I|ENST00000312428,p.M2582I	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon43	c.G7746A	p.M2582I	FKLLLEKKRSEVMKMKKRYEVGLEK	FKLLLEKKRSEVIKMKKRYEVGLEK	1.0	7.0	unscreened	-	3466_2:196723519-196723519 C>T_FKLLLEKKRSEVIKMKKRYEVGLEK
5:156589792-156589792 G>A	0.0	3466	MELANOMA	-	-	-	-	FAM71B	uc003lwn.3,p.S495F|NM_130899,p.S495F|ENST00000302938,p.S495F	protein_coding	uc003lwn.3	nonsynonymous SNV	exon2	c.C1484T	p.S495F	KGYSNVRGKRHGSSRKSSTHSSTKK	KGYSNVRGKRHGFSRKSSTHSSTKK	1.0	9.0	unscreened	-	3466_5:156589792-156589792 G>A_KGYSNVRGKRHGFSRKSSTHSSTKK
5:154397012-154397012 G>A	0.0	3466	MELANOMA	-	-	-	-	KIF4B	NM_001099293,p.G1198E|uc010jih.1,p.G1198E|ENST00000435029,p.G1198E	protein_coding	uc010jih.1	nonsynonymous SNV	exon1	c.G3593A	p.G1198E	APSPFDLPESKHGATEYQQNKPPGK	APSPFDLPESKHEATEYQQNKPPGK	1.0	9.0	-	-	3466_5:154397012-154397012 G>A_APSPFDLPESKHEATEYQQNKPPGK
7:4014096-4014096 G>T	0.0	3466	MELANOMA	-	-	-	-	SDK1	NM_152744,p.W638L|ENST00000389531,p.W638L|ENST00000404826,p.W638L|uc003smx.3,p.W638L	retained_intron, protein_coding, processed_transcript	uc003smx.3	nonsynonymous SNV	exon13	c.G1913T	p.W638L	VEKDGSLLISQTWSGDIGDYSCEIV	VEKDGSLLISQTLSGDIGDYSCEIV	3.0	8.0	unscreened	-	3466_7:4014096-4014096 G>T_VEKDGSLLISQTLSGDIGDYSCEIV
22:37271770-37271770 G>A	0.0	3466	MELANOMA	-	-	-	-	NCF4	ENST00000397147,p.D235N|NM_000631,p.D235N|ENST00000248899,p.D235N|uc003apy.4,p.D235N|uc003apz.4,p.D235N|NM_013416,p.D235N|ENST00000447071,p.D132N	protein_coding	uc003apz.4	nonsynonymous SNV	exon8	c.G703A	p.D235N	FVKILKDFPEEDDPTNWLRCYYYED	FVKILKDFPEEDNPTNWLRCYYYED	4.0	3.0	unscreened	-	3466_22:37271770-37271770 G>A_FVKILKDFPEEDNPTNWLRCYYYED
11:30926711-30926711 C>T	0.0	3466	MELANOMA	-	-	-	-	DCDC5	uc009yjk.1,p.V817I|uc021qfk.1,p.V476I|ENST00000597505,p.V1369I|ENST00000339794,p.V448I|NM_020869,p.V476I|ENST00000406071,p.V104I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qfk.1	nonsynonymous SNV	exon12	c.G1426A	p.V476I	LQGPFKVISVAEVDLSCDKAEKTLS	LQGPFKVISVAEIDLSCDKAEKTLS	1.0	2.0	unscreened	-	3466_11:30926711-30926711 C>T_LQGPFKVISVAEIDLSCDKAEKTLS
12:124377875-124377875 G>A	0.0	3466	MELANOMA	-	-	-	-	DNAH10	uc001uft.4,p.E2913K|ENST00000409039,p.E2913K|NM_207437,p.E2913K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uft.4	nonsynonymous SNV	exon52	c.G8737A	p.E2913K	QEALKQGMGPAKESVWQYFVNKSAN	QEALKQGMGPAKKSVWQYFVNKSAN	1.0	9.0	unscreened	-	3466_12:124377875-124377875 G>A_QEALKQGMGPAKKSVWQYFVNKSAN
7:48312537-48312537 G>A	0.0	3466	MELANOMA	-	-	-	-	ABCA13	uc010kyr.2,p.E595K|uc003toq.2,p.E1092K|ENST00000435803,p.E1092K|NM_152701,p.E1092K	retained_intron, protein_coding, nonsense_mediated_decay	uc010kyr.2	nonsynonymous SNV	exon18	c.G1783A	p.E595K	FQYMSQFFNSSVEDLLDNKCLISDN	FQYMSQFFNSSVKDLLDNKCLISDN	1.0	9.0	unscreened	-	3466_7:48312537-48312537 G>A_FQYMSQFFNSSVKDLLDNKCLISDN
10:37455593-37455593 G>A	0.0	3466	MELANOMA	-	-	-	-	ANKRD30A	uc001iza.1,p.E653K|NM_052997,p.E653K|ENST00000374660,p.E653K|ENST00000361713,p.E653K|uc021ppc.1,p.E653K	protein_coding, processed_transcript	uc021ppc.1	nonsynonymous SNV	exon19	c.G1957A	p.E653K	KDVCLPKAAHQKEIDKINGKLEGSP	KDVCLPKAAHQKKIDKINGKLEGSP	1.0	3.0	unscreened	-	3466_10:37455593-37455593 G>A_KDVCLPKAAHQKKIDKINGKLEGSP
7:113522155-113522155 C>T	0.0	3466	MELANOMA	-	-	ID=COSM257791;OCCURENCE=1(large_intestine),1(stomach)	-	PPP1R3A	ENST00000284601,p.R302Q|uc010ljy.1,p.R302Q|NM_002711,p.R302Q	protein_coding, nonsense_mediated_decay	uc010ljy.1	nonsynonymous SNV	exon3	c.G905A	p.R302Q	SHEDKEDLEASNRNVKDVNREHDEH	SHEDKEDLEASNQNVKDVNREHDEH	1.0	1.0	unscreened	-	3466_7:113522155-113522155 C>T_SHEDKEDLEASNQNVKDVNREHDEH
10:61833195-61833195 C>T, 10:61833164-61833164 C>T	0.0	3466	MELANOMA	-	-	-	-	ANK3	NM_020987,p.E2482K|uc001jky.3,p.E2482K|ENST00000280772,p.E2482K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jky.3	nonsynonymous SNV	exon37	c.G7444A	p.E2482K	SEKLDVSHSDTEESVTDHAGPPSSELQGSDKRSRE	SEKLDVSHSDTEKSVTDHAGPPNSELQGSDKRSRE	5.0	4.0	unscreened	Additional variant within 36 nucleotides, 10:61833164-61833164 C>T, residue 23 S>N PR	3466_10:61833195-61833195 C>T, 10:61833164-61833164 C>T_SEKLDVSHSDTEKSVTDHAGPPNSELQGSDKRSRE
2:102638684-102638684 C>T	1.0	3466	MELANOMA	-	-	-	-	IL1R2	uc002tbo.2,p.P242S|NM_004633,p.P242S|NM_001261419,p.P242S|uc002tbm.3,p.P242S|ENST00000393414,p.P242S|uc031rop.1,p.P157S|ENST00000441002,p.P242S|ENST00000332549,p.P242S|uc002tbn.4,p.P242S	retained_intron, protein_coding, processed_transcript	uc031rop.1	nonsynonymous SNV	exon5	c.C469T	p.P157S	KKKEETIPVIISPLKTISASLGSRL	KKKEETIPVIISSLKTISASLGSRL	1.0	6.0	unscreened	-	3466_2:102638684-102638684 C>T_KKKEETIPVIISSLKTISASLGSRL
19:9076168-9076168 G>A	0.0	3466	MELANOMA	-	-	ID=COSM3743219,COSM3743218;OCCURENCE=1(liver)	2	MUC16	uc002mkp.3,p.P3760S|ENST00000397910,p.P3760S|NM_024690,p.P3760S	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C11278T	p.P3760S	TATTSAPQGATTPQELTLETMISPA	TATTSAPQGATTSQELTLETMISPA	1.0	8.0	unscreened	-	3466_19:9076168-9076168 G>A_TATTSAPQGATTSQELTLETMISPA
19:7830974-7830974 C>T	0.0	3466	MELANOMA	-	-	-	-	CLEC4M	ENST00000327325,p.S222F|uc002mhy.2,p.S166F|NM_001144905,p.S198F|NM_001144904,p.S171F|ENST00000357361,p.S222F|uc010xjx.2,p.S171F|ENST00000334806,p.S171F|NM_001144910,p.S199F|uc010xjv.1,p.S194F|ENST00000394122,p.S210F|NM_014257,p.S222F|ENST00000359059,p.S178F|ENST00000248228,p.S200F|uc010dvs.3,p.S198F|ENST00000596363,p.S194F|NM_001144911,p.S194F|ENST00000595751,p.S194F|uc002mic.3,p.S194F|uc002mih.3,p.S199F	retained_intron, protein_coding	uc010xjx.2	nonsynonymous SNV	exon4	c.C512T	p.S171F	ELKAAVGELPEKSKLQEIYQELTQL	ELKAAVGELPEKFKLQEIYQELTQL	1.0	3.0	unscreened	-	3466_19:7830974-7830974 C>T_ELKAAVGELPEKFKLQEIYQELTQL
19:7830974-7830974 C>T	0.0	3466	MELANOMA	-	-	-	-	CLEC4M	NM_001144909,p.S176F	retained_intron, protein_coding	NM_001144909	nonsynonymous SNV	exon5	c.C527T	p.S176F	RLKAAVGELPEKSKLQEIYQELTQL	RLKAAVGELPEKFKLQEIYQELTQL	1.0	3.0	unscreened	-	3466_19:7830974-7830974 C>T_RLKAAVGELPEKFKLQEIYQELTQL
2:109526934-109526934 G>A	0.0	3466	MELANOMA	-	-	-	-	EDAR	uc002teq.4,p.P262L|uc010fjn.3,p.P294L|ENST00000376651,p.P294L|uc010yws.2,p.P294L|ENST00000258443,p.P262L|NM_022336,p.P262L|ENST00000409271,p.P294L	protein_coding	uc010yws.2	nonsynonymous SNV	exon8	c.C881T	p.P294L	SEKDEFEKLTATPAKPTKSENDASS	SEKDEFEKLTATLAKPTKSENDASS	1.0	2.0	unscreened	-	3466_2:109526934-109526934 G>A_SEKDEFEKLTATLAKPTKSENDASS
5:156918862-156918862 T>C	1.0	3466	MELANOMA	-	-	-	-	ADAM19	ENST00000517905,p.K656R|ENST00000257527,p.K656R|ENST00000394020,p.K658R|ENST00000430702,p.K389R|uc003lwy.3,p.K255R|uc011ddr.1,p.K587R|uc003lwz.4,p.K656R|uc003lww.3,p.K389R|NM_033274,p.K656R	retained_intron, protein_coding, nonsense_mediated_decay	uc011ddr.1	nonsynonymous SNV	exon17	c.A1760G	p.K587R	RNTSFFETEGCGKKCNDHGVCNNNQ	RNTSFFETEGCGRKCNDHGVCNNNQ	9.0	9.0	unscreened	Snp within 36 nucleotides, 5:156918850-156918850 C>T, residue 17 G>D PR	3466_5:156918862-156918862 T>C_RNTSFFETEGCGRKCNDHGVCNNNQ
10:50315705-50315705 C>T	0.0	3466	MELANOMA	-	-	-	-	VSTM4	uc001jhh.2,p.E131K|ENST00000298454,p.E131K|NM_001031746,p.E131K|uc001jhf.2,p.E131K|ENST00000332853,p.E131K|NM_144984,p.E131K	protein_coding, processed_transcript	uc001jhh.2	nonsynonymous SNV	exon2	c.G391A	p.E131K	PSDQGHYVCRVQEISRHRNKWTAWS	PSDQGHYVCRVQKISRHRNKWTAWS	5.0	6.0	unscreened	-	3466_10:50315705-50315705 C>T_PSDQGHYVCRVQKISRHRNKWTAWS
12:73014973-73014973 C>T	0.0	3466	MELANOMA	-	-	-	-	TRHDE	NM_013381,p.S807F|ENST00000261180,p.S807F|uc001sxa.3,p.S807F	retained_intron, protein_coding, processed_transcript	uc001sxa.3	nonsynonymous SNV	exon14	c.C2420T	p.S807F	PKNNFNGSLVQASYQHEELRREVIM	PKNNFNGSLVQAFYQHEELRREVIM	1.0	9.0	unscreened	-	3466_12:73014973-73014973 C>T_PKNNFNGSLVQAFYQHEELRREVIM
22:50582670-50582670 G>A	0.0	3466	MELANOMA	-	-	-	-	MOV10L1	NM_001164105,p.E815K|uc011arp.2,p.E815K|ENST00000545383,p.E835K|NM_001164104,p.E835K|uc003bjk.4,p.E835K|ENST00000540615,p.E815K|ENST00000395858,p.E835K|ENST00000262794,p.E835K|NM_018995,p.E835K|uc003bjj.3,p.E835K	protein_coding, processed_transcript, nonsense_mediated_decay	uc011arp.2	nonsynonymous SNV	exon18	c.G2443A	p.E815K	TMVRVNATCRFEEIVIDAVKPYCRD	TMVRVNATCRFEKIVIDAVKPYCRD	1.0	3.0	unscreened	-	3466_22:50582670-50582670 G>A_TMVRVNATCRFEKIVIDAVKPYCRD
16:1263783-1263783 C>T	0.0	3466	MELANOMA	-	-	-	-	CACNA1H	uc002cku.3,p.A300V|NM_021098,p.A1594V|uc002cks.3,p.A1594V|ENST00000348261,p.A1594V	retained_intron, protein_coding	uc002cku.3	nonsynonymous SNV	exon10	c.C899T	p.A300V	ERRRRSTFPSPEAQRRPYYADYSPT	ERRRRSTFPSPEVQRRPYYADYSPT	2.0	3.0	unscreened	-	3466_16:1263783-1263783 C>T_ERRRRSTFPSPEVQRRPYYADYSPT
7:37947118-37947118 C>T	0.0	3466	MELANOMA	-	-	-	1	SFRP4	NM_003014,p.R335K|uc003tfo.4,p.R335K|ENST00000436072,p.R335K	retained_intron, protein_coding	uc003tfo.4	nonsynonymous SNV	exon6	c.G1004A	p.R335K	PKPASPKKNIKTRSAQKRTNPKRV	PKPASPKKNIKTKSAQKRTNPKRV	8.0	9.0	unscreened	-	3466_7:37947118-37947118 C>T_PKPASPKKNIKTKSAQKRTNPKRV
17:46863623-46863623 C>T, 17:46863624-46863624 C>T	1.0	3466	MELANOMA	-	-	-	-	TTLL6	ENST00000393382,p.G555E|uc002iob.3,p.G248E|NM_173623,p.G248E|uc021tzm.1,p.G555E|NM_001130918,p.G555E|uc002ioc.3,p.G308E|ENST00000433608,p.G248E|uc002iod.3,p.G402E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tzm.1	nonsynonymous SNV	exon12	c.G1664A	p.G555E	KPFQMKKKVEMQGESAGEQVRKKGM	KPFQMKKKVEMQKESAGEQVRKKGM	1.0	9.0	unscreened	Dinucleotide variant, 17:46863624-46863624 C>T, residue 13 G>K PR	3466_17:46863623-46863623 C>T, 17:46863624-46863624 C>T_KPFQMKKKVEMQKESAGEQVRKKGM
1:176526002-176526002 G>A	0.0	3466	MELANOMA	-	-	ID=COSM676945,COSM676944;OCCURENCE=2(NS),1(lung)	-	PAPPA2	NM_020318,p.E182K|NM_021936,p.E182K|uc001gkz.3,p.E182K|ENST00000367662,p.E182K|uc001gky.1,p.E182K|ENST00000367661,p.E182K	protein_coding, processed_transcript	uc001gkz.3	nonsynonymous SNV	exon2	c.G544A	p.E182K	ATTTTAIFTTLNEPKPETQRRGWAK	ATTTTAIFTTLNKPKPETQRRGWAK	1.0	1.0	unscreened	-	3466_1:176526002-176526002 G>A_ATTTTAIFTTLNKPKPETQRRGWAK
1:82456273-82456273 G>A	0.0	3466	MELANOMA	-	-	-	-	LPHN2	uc001dis.3,p.S199N|ENST00000370725,p.S1290N|uc001dit.4,p.S1219N|ENST00000370730,p.S1232N|ENST00000394879,p.S1277N|uc001diu.3,p.S1219N|ENST00000370717,p.S1290N|ENST00000370728,p.S1275N|ENST00000319517,p.S1219N|NM_012302,p.S1219N|ENST00000335786,p.S1232N|ENST00000271029,p.S1247N|ENST00000359929,p.S1219N|ENST00000370727,p.S1247N|ENST00000370721,p.S1200N|uc001diw.3,p.S846N|ENST00000370723,p.S1277N|NM_001297704,p.S1219N	protein_coding, processed_transcript	uc001diw.3	nonsynonymous SNV	exon17	c.G2537A	p.S846N	IISELVHNNLRGSSKTHNLELTLPV	IISELVHNNLRGNSKTHNLELTLPV	4.0	1.0	unscreened	-	3466_1:82456273-82456273 G>A_IISELVHNNLRGNSKTHNLELTLPV
15:23684973-23684973 T>G	0.0	3466	MELANOMA	-	-	-	-	GOLGA8S,MIR4508	uc021sfx.1,p.K74T|ENST00000312015,p.K557T	protein_coding, nonsense_mediated_decay	uc021sfx.1	nonsynonymous SNV	exon1	c.A221C	p.K74T	MMREKEERIRDQKEKMQERLPEHEE	MMREKEERIRDQTEKMQERLPEHEE	1.0	3.0	unscreened	Snp within 36 nucleotides, 15:23684104-23684104 T->CAT, residue 1 E>M PR	3466_15:23684973-23684973 T>G_MMREKEERIRDQTEKMQERLPEHEE
19:38377374-38377374 C>T	0.0	3466	MELANOMA	-	-	-	-	WDR87	NM_031951,p.E2274K|NM_001291088,p.E2313K	retained_intron, protein_coding	NM_031951	nonsynonymous SNV	exon6	c.G6820A	p.E2274K	EREEEEERKEEEEGEEKQVEKEEEE	EREEEEERKEEEKGEEKQVEKEEEE	1.0	1.0	unscreened	-	3466_19:38377374-38377374 C>T_EREEEEERKEEEKGEEKQVEKEEEE
17:10400655-10400655 C>T	0.0	3466	MELANOMA	-	-	-	-	MYH1	ENST00000226207,p.E1494K|uc002gmo.3,p.E1494K|NM_005963,p.E1494K	protein_coding	uc002gmo.3	nonsynonymous SNV	exon32	c.G4480A	p.E1494K	STELFKIKNAYEESLDQLETLKREN	STELFKIKNAYEKSLDQLETLKREN	3.0	9.0	unscreened	-	3466_17:10400655-10400655 C>T_STELFKIKNAYEKSLDQLETLKREN
12:96354255-96354255 G>A	0.0	3466	MELANOMA	-	-	-	-	AMDHD1	uc001tel.2,p.E223K|NM_152435,p.E223K|ENST00000266736,p.E223K|uc009zth.2,p.E114K	retained_intron, protein_coding, nonsense_mediated_decay	uc009zth.2	nonsynonymous SNV	exon4	c.G340A	p.E114K	HLPKLKELGRNGEIHVDNIDVFCEK	HLPKLKELGRNGKIHVDNIDVFCEK	3.0	9.0	unscreened	-	3466_12:96354255-96354255 G>A_HLPKLKELGRNGKIHVDNIDVFCEK
7:102194862-102194862 G>A	0.0	3466	MELANOMA	-	-	-	-	SPDYE2,SPDYE2B	uc011kkx.2,p.E73K|NM_001031618,p.E73K|NM_001166339,p.E73K|ENST00000507918,p.E73K	protein_coding	uc011kkx.2	nonsynonymous SNV	exon3	c.G217A	p.E73K	PPCRSLGWKRKREWSDESEEEPEKE	PPCRSLGWKRKRKWSDESEEEPEKE	1.0	1.0	unscreened	-	3466_7:102194862-102194862 G>A_PPCRSLGWKRKRKWSDESEEEPEKE
19:17737482-17737482 C>T	0.0	3466	MELANOMA	-	-	-	-	UNC13A	ENST00000551649,p.D1345N|ENST00000428389,p.D1433N|ENST00000550896,p.D1343N|ENST00000552293,p.D1345N|NM_001080421,p.D1345N|uc031rjw.1,p.D1345N|ENST00000252773,p.D1345N|ENST00000519716,p.D1345N	retained_intron, protein_coding	uc031rjw.1	nonsynonymous SNV	exon34	c.G4033A	p.D1345N	PASACSSVAQDADNVLQPIMDLLDS	PASACSSVAQDANNVLQPIMDLLDS	1.0	2.0	unscreened	-	3466_19:17737482-17737482 C>T_PASACSSVAQDANNVLQPIMDLLDS
3:169557892-169557892 G>A	0.0	3466	MELANOMA	-	-	-	-	LRRC31	NM_001277128,p.P457S|uc003fgc.2,p.P513S|ENST00000316428,p.P513S|NM_024727,p.P513S|uc010hwp.2,p.P457S|ENST00000264676,p.P457S	protein_coding, processed_transcript	uc010hwp.2	nonsynonymous SNV	exon8	c.C1369T	p.P457S	WFRHLLYAVTKLPQITEIGMKRWIL	WFRHLLYAVTKLSQITEIGMKRWIL	1.0	5.0	unscreened	-	3466_3:169557892-169557892 G>A_WFRHLLYAVTKLSQITEIGMKRWIL
1:175332877-175332877 C>T	0.0	3466	MELANOMA	0.0009	-	ID=COSM3385429;OCCURENCE=1(pancreas)	-	TNR	ENST00000263525,p.D892N|uc001gkp.1,p.D892N|uc009wwu.1,p.D892N|ENST00000367674,p.D892N|NM_003285,p.D892N	protein_coding	uc009wwu.1	nonsynonymous SNV	exon13	c.G2674A	p.D892N	VMVSWSPPVASFDYYRVSYRPTQVG	VMVSWSPPVASFNYYRVSYRPTQVG	1.0	2.0	unscreened	-	3466_1:175332877-175332877 C>T_VMVSWSPPVASFNYYRVSYRPTQVG
1:237947682-237947682 G>A	0.0	3466	MELANOMA	-	-	-	-	RYR2	ENST00000360064,p.E4230K|uc001hyl.1,p.E4224K|ENST00000542537,p.E4208K|ENST00000366574,p.E4224K|uc010pya.2,p.E639K|NM_001035,p.E4224K	protein_coding, processed_transcript	uc010pya.2	nonsynonymous SNV	exon16	c.G1915A	p.E639K	NERSANKEESEKERPEEQGPRMAFF	NERSANKEESEKKRPEEQGPRMAFF	2.0	1.0	unscreened	-	3466_1:237947682-237947682 G>A_NERSANKEESEKKRPEEQGPRMAFF
1:159175277-159175277 C>A	0.0	3466	MELANOMA	-	-	-	-	ACKR1	ENST00000435307,p.N18K|uc001ftp.4,p.N18K|NM_001122951,p.N18K|ENST00000368121,p.N18K	protein_coding	uc001ftp.4	nonsynonymous SNV	exon1	c.C54A	p.N18K	YVLQAELSPSTENSSQLDFEDVWNS	YVLQAELSPSTEKSSQLDFEDVWNS	2.0	3.0	unscreened	-	3466_1:159175277-159175277 C>A_YVLQAELSPSTEKSSQLDFEDVWNS
1:159175277-159175277 C>A	0.0	3466	MELANOMA	-	-	-	-	ACKR1	uc001fto.3,p.N16K|ENST00000537147,p.N16K|ENST00000368122,p.N16K|NM_002036,p.N16K	protein_coding	uc001fto.3	nonsynonymous SNV	exon2	c.C48A	p.N16K	CLHRAELSPSTENSSQLDFEDVWNS	CLHRAELSPSTEKSSQLDFEDVWNS	2.0	3.0	unscreened	-	3466_1:159175277-159175277 C>A_CLHRAELSPSTEKSSQLDFEDVWNS
3:447185-447185 G>A	0.0	3466	MELANOMA	-	-	-	-	CHL1	NM_001253387,p.D1140N|ENST00000397491,p.D1140N|uc011asi.2,p.D1103N|uc003bou.3,p.D1140N|NM_001253388,p.D1103N|uc003bot.3,p.D1156N|ENST00000256509,p.D1156N|NM_006614,p.D1156N	protein_coding, processed_transcript, nonsense_mediated_decay	uc011asi.2	nonsynonymous SNV	exon25	c.G3307A	p.D1103N	VKDETFGEYSDSDEKPLKGSLRSLN	VKDETFGEYSDSNEKPLKGSLRSLN	2.0	4.0	unscreened	-	3466_3:447185-447185 G>A_VKDETFGEYSDSNEKPLKGSLRSLN
2:179634644-179634644 C>T	0.0	3466	MELANOMA	-	-	-	-	TTN	NM_001267550,p.M2888I|NM_133437,p.M2842I|NM_003319,p.M2842I|ENST00000589042,p.M2888I|ENST00000360870,p.M2888I|NM_133432,p.M2842I|uc031rqd.1,p.M2888I|NM_001256850,p.M2888I|uc031rqc.1,p.M2888I|ENST00000591111,p.M2888I|ENST00000342992,p.M2888I|uc002unb.3,p.M2888I|uc021vsy.2,p.M2888I|ENST00000460472,p.M2842I|NM_133378,p.M2888I|uc021vtb.2,p.M2842I|ENST00000359218,p.M2842I|uc021vta.2,p.M2842I|ENST00000342175,p.M2842I|NM_133379,p.M2888I|uc021vsz.2,p.M2842I	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon37	c.G8664A	p.M2888I	KLFVETLHITKTMKNIEVPETKTAS	KLFVETLHITKTIKNIEVPETKTAS	5.0	7.0	unscreened	-	3466_2:179634644-179634644 C>T_KLFVETLHITKTIKNIEVPETKTAS
7:39379544-39379544 C>T	0.0	3466	MELANOMA	-	-	-	-	POU6F2	uc010kxo.3,p.P264L|ENST00000403058,p.P272L|uc003thb.2,p.P272L|ENST00000559001,p.P264L|NM_001166018,p.P272L|NM_007252,p.P272L|uc022acb.1,p.P272L|ENST00000524147,p.P264L|ENST00000520104,p.P264L|ENST00000518318,p.P272L	protein_coding, processed_transcript, nonsense_mediated_decay	uc022acb.1	nonsynonymous SNV	exon6	c.C815T	p.P272L	QNQPSPTQQSSSPPQKPSQSPGHGL	QNQPSPTQQSSSLPQKPSQSPGHGL	1.0	1.0	unscreened	-	3466_7:39379544-39379544 C>T_QNQPSPTQQSSSLPQKPSQSPGHGL
2:171573138-171573138 A>C	0.0	3466	MELANOMA	-	-	-	-	SP5	uc002uge.3,p.S141R|ENST00000375281,p.S141R|NM_001003845,p.S141R	protein_coding, processed_transcript	uc002uge.3	nonsynonymous SNV	exon2	c.A421C	p.S141R	KMLPSSMAALPASCAPAYVPYAAQA	KMLPSSMAALPARCAPAYVPYAAQA	1.0	6.0	unscreened	-	3466_2:171573138-171573138 A>C_KMLPSSMAALPARCAPAYVPYAAQA
11:6977184-6977184 C>T	0.0	3466	MELANOMA	-	-	-	-	ZNF215	uc010raw.3,p.P100S|uc001mey.3,p.P326S|uc010rax.2,p.P88S|ENST00000278319,p.P326S|ENST00000414517,p.P326S|NM_013250,p.P326S	protein_coding, processed_transcript	uc010rax.2	nonsynonymous SNV	exon5	c.C262T	p.P88S	SVSSICAIQVGIPSRKGSPKCDKFK	SVSSICAIQVGISSRKGSPKCDKFK	4.0	1.0	unscreened	-	3466_11:6977184-6977184 C>T_SVSSICAIQVGISSRKGSPKCDKFK
19:39362320-39362320 G>A	0.0	3466	MELANOMA	-	-	-	-	RINL	uc010xuo.2,p.P140S|uc002ojq.3,p.P26S|NM_198445,p.P26S|ENST00000598904,p.P26S|ENST00000340740,p.P26S|ENST00000591812,p.P140S|NM_001195833,p.P140S	retained_intron, protein_coding, processed_transcript	uc010xuo.2	nonsynonymous SNV	exon6	c.C418T	p.P140S	SRDVLPRTLLLPPPTLGPRDEHTDP	SRDVLPRTLLLPSPTLGPRDEHTDP	4.0	7.0	unscreened	-	3466_19:39362320-39362320 G>A_SRDVLPRTLLLPSPTLGPRDEHTDP
16:76311642-76311642 C>T	0.0	3466	MELANOMA	-	-	-	-	CNTNAP4	ENST00000377504,p.S27F|ENST00000307431,p.S27F	retained_intron, protein_coding, processed_transcript, TEC	ENST00000377504	nonsynonymous SNV	exon2	c.C80T	p.S27F	STQNWNRVEAGNSYDCDDPLVSALP	STQNWNRVEAGNFYDCDDPLVSALP	2.0	8.0	unscreened	-	3466_16:76311642-76311642 C>T_STQNWNRVEAGNFYDCDDPLVSALP
1:209791362-209791362 C>T	1.0	3466	MELANOMA	-	-	-	-	LAMB3	uc009xco.3,p.E981K|ENST00000455193,p.E50K|uc001hhh.3,p.E981K|NM_001017402,p.E981K|ENST00000367030,p.E981K|uc001hhg.3,p.E981K|ENST00000356082,p.E981K|NM_001127641,p.E981K|NM_000228,p.E981K|ENST00000391911,p.E981K	protein_coding	uc009xco.3	nonsynonymous SNV	exon20	c.G2941A	p.E981K	ARSRAHAVEGQVEDVVGNLRQGTVA	ARSRAHAVEGQVKDVVGNLRQGTVA	4.0	2.0	unscreened	-	3466_1:209791362-209791362 C>T_ARSRAHAVEGQVKDVVGNLRQGTVA
19:15586370-15586370 C>T	0.0	3466	MELANOMA	-	-	-	-	PGLYRP2	uc002nbg.3,p.E371K|NM_052890,p.E371K|ENST00000340880,p.E371K|ENST00000292609,p.E371K|uc002nbf.4,p.E371K	protein_coding	uc002nbg.3	nonsynonymous SNV	exon2	c.G1111A	p.E371K	EQLAQVAANATKEFTEAFLGCPAIH	EQLAQVAANATKKFTEAFLGCPAIH	1.0	8.0	unscreened	-	3466_19:15586370-15586370 C>T_EQLAQVAANATKKFTEAFLGCPAIH
18:76753766-76753766 C>T	0.0	3466	MELANOMA	-	-	-	-	SALL3	NM_171999,p.P592L|ENST00000537592,p.P592L|uc010dra.3,p.P199L|uc002lmt.3,p.P592L|ENST00000536229,p.P459L|ENST00000575389,p.P592L	protein_coding, processed_transcript	uc010dra.3	nonsynonymous SNV	exon1	c.C596T	p.P199L	TAESPQSLLGGPPLTKAEPVSLPCT	TAESPQSLLGGPLLTKAEPVSLPCT	1.0	4.0	unscreened	Snp within 36 nucleotides, 18:76753768-76753768 C>G, residue 14 L>V PR	3466_18:76753766-76753766 C>T_TAESPQSLLGGPLLTKAEPVSLPCT
13:29933414-29933414 G>A	0.0	3466	MELANOMA	-	-	-	-	MTUS2	uc001usl.4,p.R984K|ENST00000431530,p.R984K|NM_001033602,p.R984K	retained_intron, protein_coding, processed_transcript	uc001usl.4	nonsynonymous SNV	exon6	c.G2951A	p.R984K	TTKLHSPGYPKQRTAAARNGFPPKP	TTKLHSPGYPKQKTAAARNGFPPKP	1.0	9.0	unscreened	-	3466_13:29933414-29933414 G>A_TTKLHSPGYPKQKTAAARNGFPPKP
16:21053449-21053449 A>T	0.0	3466	MELANOMA	-	-	-	-	DNAH3	uc010vbe.2,p.I1513N|ENST00000261383,p.I1513N|NM_017539,p.I1513N|ENST00000415178,p.I1513N	retained_intron, protein_coding, processed_transcript	uc010vbe.2	nonsynonymous SNV	exon32	c.T4538A	p.I1513N	IQQAIIRKLKTFIFEGTELSLNPTC	IQQAIIRKLKTFNFEGTELSLNPTC	1.0	4.0	unscreened	-	3466_16:21053449-21053449 A>T_IQQAIIRKLKTFNFEGTELSLNPTC
6:24467020-24467020 G>A	0.0	3466	MELANOMA	-	-	-	-	GPLD1	uc003ned.2,p.P237S|NM_001503,p.P237S|uc010jpr.1,p.P74S|uc010jps.1,p.P237S|ENST00000230036,p.P237S	retained_intron, protein_coding, processed_transcript	uc010jps.1	nonsynonymous SNV	exon10	c.C709T	p.P237S	VSKLYPTYSTKSPFLVEQFQEYFLG	VSKLYPTYSTKSSFLVEQFQEYFLG	1.0	8.0	unscreened	-	3466_6:24467020-24467020 G>A_VSKLYPTYSTKSSFLVEQFQEYFLG
8:77768516-77768516 G>A	1.0	3466	MELANOMA	-	-	-	-	ZFHX4	uc003yaw.1,p.G3075E	retained_intron, protein_coding, nonsense_mediated_decay	uc003yaw.1	nonsynonymous SNV	exon9	c.G9224A	p.G3075E	LLPGMNGPSSLPGFPQNSNSKS	LLPGMNGPSSLPEFPQNSNSKS	4.0	1.0	unscreened	-	3466_8:77768516-77768516 G>A_LLPGMNGPSSLPEFPQNSNSKS
17:97003-97003 C>T	0.0	3466	MELANOMA	-	-	-	-	RPH3AL	NM_001190412,p.R142Q|uc010cjl.2,p.R142Q|NM_001190411,p.R171Q|uc021tmx.1,p.R171Q|ENST00000576420,p.R171Q|ENST00000536489,p.R142Q|uc002fre.2,p.R171Q|NM_006987,p.R171Q|ENST00000577079,p.R171Q|ENST00000331302,p.R171Q|NM_001190413,p.R142Q|uc002frf.2,p.R142Q|ENST00000323434,p.R142Q|uc010vpy.2,p.R171Q	retained_intron, protein_coding, processed_transcript	uc021tmx.1	nonsynonymous SNV	exon6	c.G512A	p.R171Q	LPKYILPLKTPGRADDPHFRPLPTE	LPKYILPLKTPGQADDPHFRPLPTE	1.0	9.0	unscreened	-	3466_17:97003-97003 C>T_LPKYILPLKTPGQADDPHFRPLPTE
6:73902311-73902311 G>A	0.0	3466	MELANOMA	-	-	-	-	KCNQ5	ENST00000414165,p.G468E|NM_001160133,p.G597E|uc011dyj.2,p.G468E|uc003pgk.3,p.G578E|uc011dyh.2,p.G597E|ENST00000402622,p.G588E|NM_019842,p.G578E|uc010kat.3,p.G569E|uc011dyi.2,p.G588E|ENST00000355194,p.G578E|NM_001160132,p.G588E|uc011dyk.2,p.G328E|NM_001160130,p.G569E|ENST00000403813,p.G569E|NM_001160134,p.G468E|ENST00000370398,p.G578E|ENST00000342056,p.G597E|ENST00000355635,p.G579E	protein_coding	uc011dyk.2	nonsynonymous SNV	exon11	c.G983A	p.G328E	SLQTRVDQILGKGQITSDKKSREKI	SLQTRVDQILGKEQITSDKKSREKI	1.0	9.0	unscreened	-	3466_6:73902311-73902311 G>A_SLQTRVDQILGKEQITSDKKSREKI
2:136567062-136567062 G>A	0.0	3466	MELANOMA	-	-	-	-	LCT	uc002tuu.1,p.A952V|ENST00000452974,p.A384V|ENST00000264162,p.A952V|NM_002299,p.A952V	protein_coding, nonsense_mediated_decay	uc002tuu.1	nonsynonymous SNV	exon8	c.C2855T	p.A952V	GSNVKDNATGDIACDSYHQLDADLN	GSNVKDNATGDIVCDSYHQLDADLN	1.0	2.0	unscreened	-	3466_2:136567062-136567062 G>A_GSNVKDNATGDIVCDSYHQLDADLN
2:48950608-48950608 C>T	0.0	3466	MELANOMA	-	-	-	-	LHCGR	ENST00000405626,p.E175K|ENST00000344775,p.E175K|uc002rwu.4,p.E175K|ENST00000403273,p.E175K|ENST00000602369,p.E150K|NM_000233,p.E175K|ENST00000294954,p.E175K|ENST00000401907,p.E175K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002rwu.4	nonsynonymous SNV	exon6	c.G523A	p.E175K	TIPGNAFQGMNNESVTLKLYGNGFE	TIPGNAFQGMNNKSVTLKLYGNGFE	1.0	3.0	unscreened	-	3466_2:48950608-48950608 C>T_TIPGNAFQGMNNKSVTLKLYGNGFE
14:92058241-92058241 C>T	0.0	3466	MELANOMA	-	-	ID=COSM231956;OCCURENCE=1(skin)	-	CATSPERB	uc001xzs.1,p.E939K|ENST00000256343,p.E939K|uc010aub.1,p.E461K|NM_024764,p.E939K	retained_intron, protein_coding, nonsense_mediated_decay	uc010aub.1	nonsynonymous SNV	exon9	c.G1381A	p.E461K	KFSHAVAFSDCREKVPRFKFPITQY	KFSHAVAFSDCRKKVPRFKFPITQY	1.0	9.0	unscreened	-	3466_14:92058241-92058241 C>T_KFSHAVAFSDCRKKVPRFKFPITQY
1:156555012-156555012 G>A	0.0	3466	MELANOMA	-	-	-	-	TTC24	ENST00000368236,p.G482E|NM_001105669,p.G482E|uc021pbf.1,p.G482E|ENST00000368237,p.G482E	protein_coding, processed_transcript	uc021pbf.1	nonsynonymous SNV	exon8	c.G1445A	p.G482E	ERSANVPVRAGPGRPELCFLPGTVN	ERSANVPVRAGPERPELCFLPGTVN	3.0	8.0	unscreened	-	3466_1:156555012-156555012 G>A_ERSANVPVRAGPERPELCFLPGTVN
X:111698524-111698524 G>A	0.0	3466	MELANOMA	-	-	-	-	ZCCHC16	NM_001004308,p.D190N|uc022cct.1,p.D190N|uc004epo.1,p.D190N|ENST00000340433,p.D190N	protein_coding	uc022cct.1	nonsynonymous SNV	exon1	c.G568A	p.D190N	TIQSGQFEKALADPNQDEESVTDMM	TIQSGQFEKALANPNQDEESVTDMM	1.0	9.0	unscreened	Snp within 36 nucleotides, X:111698492-111698492 A>T, residue 2 N>I PR	3466_X:111698524-111698524 G>A_TIQSGQFEKALANPNQDEESVTDMM
19:5783201-5783201 C>T	0.0	3466	MELANOMA	-	-	-	-	PRR22	NM_001134316,p.D353N|uc010xiv.1,p.D353N|ENST00000419421,p.D353N|uc002mdb.1,p.D351N	protein_coding	uc010xiv.1	nonsynonymous SNV	exon3	c.G1057A	p.D353N	SVPEILDTVSNVDYFFNFKALDEEQ	SVPEILDTVSNVNYFFNFKALDEEQ	2.0	7.0	unscreened	-	3466_19:5783201-5783201 C>T_SVPEILDTVSNVNYFFNFKALDEEQ
15:22369161-22369161 G>A	0.0	3466	MELANOMA	-	-	-	-	OR4M2	ENST00000332663,p.E196K|NM_001004719,p.E196K|uc010tzu.2,p.E196K	protein_coding	uc010tzu.2	nonsynonymous SNV	exon1	c.G586A	p.E196K	VVRIACANTFPEELVMICSSGLISV	VVRIACANTFPEKLVMICSSGLISV	1.0	4.0	unscreened	-	3466_15:22369161-22369161 G>A_VVRIACANTFPEKLVMICSSGLISV
2:84777114-84777114 G>A	0.0	3466	MELANOMA	-	-	-	-	DNAH6	uc010fgb.3,p.R473Q|ENST00000237449,p.R473Q|ENST00000389394,p.R473Q|ENST00000398278,p.R473Q|uc002soo.3,p.R52Q|NM_001370,p.R473Q|uc002sop.3,p.R52Q	retained_intron, protein_coding, processed_transcript	uc010fgb.3	nonsynonymous SNV	exon9	c.G1418A	p.R473Q	NSLLNHLTDKLKRTPSADVIQKWIT	NSLLNHLTDKLKQTPSADVIQKWIT	1.0	2.0	unscreened	-	3466_2:84777114-84777114 G>A_NSLLNHLTDKLKQTPSADVIQKWIT
2:40342521-40342521 C>T	0.0	3466	MELANOMA	-	-	-	-	SLC8A1	uc002rsa.3,p.E896K|NM_001252624,p.E924K|uc002rrz.3,p.E919K|uc002rsd.4,p.E896K|NM_001112800,p.E927K|ENST00000408028,p.E924K|ENST00000403092,p.E932K|uc002rsb.2,p.E924K|NM_001112801,p.E919K|ENST00000406391,p.E896K|uc002rry.3,p.E927K|ENST00000402441,p.E896K|uc002rrx.3,p.E932K|ENST00000542756,p.E927K|ENST00000542024,p.E896K|ENST00000332839,p.E932K|NM_001112802,p.E896K|ENST00000406785,p.E896K|NM_021097,p.E932K|ENST00000405901,p.E927K|ENST00000405269,p.E896K	protein_coding, nonsense_mediated_decay	uc002rsd.4	nonsynonymous SNV	exon8	c.G2686A	p.E896K	INVGVLLYRRRPEIGGELGGPRTAK	INVGVLLYRRRPKIGGELGGPRTAK	6.0	7.0	unscreened	-	3466_2:40342521-40342521 C>T_INVGVLLYRRRPKIGGELGGPRTAK
6:87725875-87725875 C>T	0.0	3466	MELANOMA	-	-	-	-	HTR1E	ENST00000369584,p.P275S|ENST00000305344,p.P275S|uc003pli.3,p.P275S|uc021zcg.1,p.P275S|NM_000865,p.P275S	protein_coding	uc021zcg.1	nonsynonymous SNV	exon1	c.C823T	p.P275S	IRIPPFDNDLDHPGERQQISSTRER	IRIPPFDNDLDHSGERQQISSTRER	1.0	9.0	unscreened	-	3466_6:87725875-87725875 C>T_IRIPPFDNDLDHSGERQQISSTRER
7:157926562-157926562 C>T	0.0	3466	MELANOMA	-	-	-	-	PTPRN2	uc003wnp.3,p.D438N|uc011kwa.2,p.D478N|uc003wno.3,p.D455N|NM_130843,p.D455N|NM_130842,p.D438N|ENST00000404321,p.D478N|ENST00000389416,p.D438N|NM_002847,p.D455N|ENST00000409483,p.D417N|ENST00000389418,p.D455N|ENST00000389413,p.D455N|uc003wnq.3,p.D455N|uc003wnr.3,p.D417N	protein_coding	uc011kwa.2	nonsynonymous SNV	exon9	c.G1432A	p.D478N	GVENVKSQTYSKDLLGQQPHSEPGA	GVENVKSQTYSKNLLGQQPHSEPGA	2.0	9.0	unscreened	-	3466_7:157926562-157926562 C>T_GVENVKSQTYSKNLLGQQPHSEPGA
1:190250801-190250801 C>T	0.0	3466	MELANOMA	-	-	-	-	BRINP3	ENST00000367462,p.E106K|NM_199051,p.E106K|uc001gse.1,p.E106K	protein_coding, processed_transcript	uc001gse.1	nonsynonymous SNV	exon3	c.G316A	p.E106K	RNFLGSPLPLAPEFFRNIRLLGRRP	RNFLGSPLPLAPKFFRNIRLLGRRP	1.0	8.0	unscreened	-	3466_1:190250801-190250801 C>T_RNFLGSPLPLAPKFFRNIRLLGRRP
1:158641240-158641240 A>T	0.0	3466	MELANOMA	-	-	-	-	SPTA1	uc001fst.1,p.F498I|ENST00000368147,p.F498I|ENST00000368148,p.F498I|NM_003126,p.F498I	protein_coding, processed_transcript	uc001fst.1	nonsynonymous SNV	exon12	c.T1492A	p.F498I	EQVDSWMSRQEAFLENEDLGNSLGS	EQVDSWMSRQEAILENEDLGNSLGS	4.0	8.0	unscreened	-	3466_1:158641240-158641240 A>T_EQVDSWMSRQEAILENEDLGNSLGS
2:167089941-167089941 A>C	0.0	3466	MELANOMA	-	-	-	-	SCN9A	uc010fpl.3,p.L1267R|ENST00000375387,p.L1279R|ENST00000409672,p.L1267R|ENST00000409435,p.L1278R|NM_002977,p.L1267R|ENST00000303354,p.L1279R	retained_intron, protein_coding	uc010fpl.3	nonsynonymous SNV	exon21	c.T3800G	p.L1267R	VDVSLVTLVANTLGYSDLGPIKSLR	VDVSLVTLVANTRGYSDLGPIKSLR	6.0	4.0	unscreened	-	3466_2:167089941-167089941 A>C_VDVSLVTLVANTRGYSDLGPIKSLR
6:117589634-117589634 G>A	0.0	3466	MELANOMA	-	-	-	-	VGLL2	uc003pxo.3,p.R124K|ENST00000352536,p.R124K|NM_153453,p.R124K	protein_coding	uc003pxo.3	nonsynonymous SNV	exon2	c.G371A	p.R124K	SYSPSCTSSKAPRSSGPWRARRYSL	SYSPSCTSSKAPKSSGPWRARRYSL	1.0	9.0	unscreened	-	3466_6:117589634-117589634 G>A_SYSPSCTSSKAPKSSGPWRARRYSL
10:106602615-106602615 G>T	0.0	3466	MELANOMA	-	-	-	-	SORCS3	NM_014978,p.W231C|uc001kyi.1,p.W231C|ENST00000369701,p.W231C	protein_coding	uc001kyi.1	nonsynonymous SNV	exon2	c.G693T	p.W231C	DFNLGSVTESSLWRSTDYGTTYEKL	DFNLGSVTESSLCRSTDYGTTYEKL	1.0	3.0	unscreened	-	3466_10:106602615-106602615 G>T_DFNLGSVTESSLCRSTDYGTTYEKL
1:209948709-209948709 G>C, 1:209948710-209948710 G>A	0.0	3466	MELANOMA	-	-	-	-	TRAF3IP3	uc001hhn.3,p.G244R|NM_025228,p.G264R|uc009xcr.3,p.G264R|ENST00000367026,p.G244R|ENST00000367025,p.G264R|ENST00000367024,p.G264R|ENST00000010338,p.G244R|ENST00000478359,p.G264R|uc001hho.3,p.G264R|ENST00000400959,p.G244R|uc001hhm.2,p.G264R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009xcr.3	nonsynonymous SNV	exon10	c.G790C	p.G264R	QLYTCTQKYSPWGMKKVLLEMEDQK	QLYTCTQKYSPWQMKKVLLEMEDQK	5.0	6.0	unscreened	Dinucleotide, 1:209948710-209948710 G>A, residue 13 G>Q PR	3466_1:209948709-209948709 G>C, 1:209948710-209948710 G>A_QLYTCTQKYSPWQMKKVLLEMEDQK
5:157053715-157053715 C>T	0.0	3466	MELANOMA	-	-	-	-	SOX30	ENST00000519442,p.S327N|ENST00000265007,p.S632N|uc003lxb.1,p.S632N|NM_178424,p.S632N|uc011dds.1,p.S327N	protein_coding	uc011dds.1	nonsynonymous SNV	exon6	c.G980A	p.S327N	GPHYFPSSTCPYSRPPFGYGNFPSS	GPHYFPSSTCPYNRPPFGYGNFPSS	1.0	9.0	unscreened	-	3466_5:157053715-157053715 C>T_GPHYFPSSTCPYNRPPFGYGNFPSS
2:242707275-242707275 T>A	1.0	3466	MELANOMA	-	-	-	-	D2HGDH	uc002wci.2,p.L185Q|NM_001287249,p.L352Q|uc002wce.1,p.L486Q|uc010fzq.1,p.L352Q|ENST00000403782,p.L352Q|ENST00000321264,p.L486Q|NM_152783,p.L486Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fzq.1	nonsynonymous SNV	exon9	c.T1055A	p.L352Q	AEHGVGFRKRDVLGYSKPPGALQLM	AEHGVGFRKRDVQGYSKPPGALQLM	5.0	2.0	unscreened	-	3466_2:242707275-242707275 T>A_AEHGVGFRKRDVQGYSKPPGALQLM
12:53721971-53721971 G>A	0.0	3466	MELANOMA	-	-	-	-	SP7	ENST00000536324,p.P419S|NM_152860,p.P419S|ENST00000303846,p.P419S|uc001scv.3,p.P419S|NM_001300837,p.P401S|NM_001173467,p.P419S|uc001scu.3,p.P401S|uc001sct.3,p.P419S|ENST00000537210,p.P401S	protein_coding	uc001scv.3	nonsynonymous SNV	exon3	c.C1255T	p.P419S	RPSASPATPEKAPGGSPEQSNLLEI	RPSASPATPEKASGGSPEQSNLLEI	1.0	9.0	unscreened	-	3466_12:53721971-53721971 G>A_RPSASPATPEKASGGSPEQSNLLEI
X:111698740-111698740 G>A	0.0	3466	MELANOMA	-	-	-	-	ZCCHC16	uc022cct.1,p.G262S|NM_001004308,p.G262S|ENST00000340433,p.G262S|uc004epo.1,p.G262S	protein_coding	uc022cct.1	nonsynonymous SNV	exon1	c.G784A	p.G262S	PPPKKGPIQLREGQLPLTPAKRARQ	PPPKKGPIQLRESQLPLTPAKRARQ	1.0	9.0	unscreened	-	3466_X:111698740-111698740 G>A_PPPKKGPIQLRESQLPLTPAKRARQ
7:82595572-82595572 C>T	0.0	3466	MELANOMA	-	-	-	-	PCLO	uc003uhx.2,p.E1178K|NM_033026,p.E1178K|ENST00000333891,p.E1178K|uc003uhv.2,p.E1178K|ENST00000423517,p.E1178K|NM_014510,p.E1178K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon4	c.G3532A	p.E1178K	TEAEKVILEKVKETLSMEKIPPMVT	TEAEKVILEKVKKTLSMEKIPPMVT	1.0	1.0	unscreened	-	3466_7:82595572-82595572 C>T_TEAEKVILEKVKKTLSMEKIPPMVT
22:40356063-40356063 T>A	0.0	3466	MELANOMA	-	-	-	-	GRAP2	ENST00000420971,p.F59I|NM_001291824,p.F59I|ENST00000407075,p.F59I|uc003ayh.2,p.F59I|NM_001291825,p.F59I|ENST00000344138,p.F59I|uc010gya.2,p.F59I|uc003ayj.2,p.F59I|NM_004810,p.F59I	retained_intron, protein_coding, processed_transcript	uc010gya.2	nonsynonymous SNV	exon4	c.T175A	p.F59I	PKNFIDIQFPKWFHEGLSRHQAENL	PKNFIDIQFPKWIHEGLSRHQAENL	4.0	3.0	unscreened	-	3466_22:40356063-40356063 T>A_PKNFIDIQFPKWIHEGLSRHQAENL
15:51696586-51696586 G>A	0.0	3466	MELANOMA	-	-	-	-	GLDN	ENST00000335449,p.E431K|NM_181789,p.E431K|ENST00000396399,p.E307K|uc002abb.3,p.E307K|uc002aba.3,p.E431K	retained_intron, protein_coding	uc002abb.3	nonsynonymous SNV	exon10	c.G919A	p.E307K	ANSKTYFNLAVDEKGLWIIYASSVD	ANSKTYFNLAVDKKGLWIIYASSVD	1.0	7.0	unscreened	-	3466_15:51696586-51696586 G>A_ANSKTYFNLAVDKKGLWIIYASSVD
17:48600412-48600412 G>A	0.0	3466	MELANOMA	-	-	-	-	MYCBPAP	ENST00000323776,p.R500Q|ENST00000436259,p.R463Q|NM_032133,p.R500Q|uc010wmr.2,p.R500Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wmr.2	nonsynonymous SNV	exon11	c.G1499A	p.R500Q	VNNGTVAIWYDWRRQHQPDTFQDLK	VNNGTVAIWYDWQRQHQPDTFQDLK	1.0	9.0	unscreened	-	3466_17:48600412-48600412 G>A_VNNGTVAIWYDWQRQHQPDTFQDLK
10:84118498-84118498 C>G	0.0	3466	MELANOMA	-	-	ID=COSM94870;OCCURENCE=1(lung)	-	NRG3	ENST00000556918,p.T106R|uc021pvi.1,p.T106R	protein_coding, nonsense_mediated_decay	uc021pvi.1	nonsynonymous SNV	exon4	c.C317G	p.T106R	TRVVRRQKQEQDTTTYSTERSEHFK	TRVVRRQKQEQDRTTYSTERSEHFK	1.0	3.0	unscreened	-	3466_10:84118498-84118498 C>G_TRVVRRQKQEQDRTTYSTERSEHFK
17:12666635-12666635 G>A	0.0	3466	MELANOMA	-	-	ID=COSM975594,COSM1153027;OCCURENCE=1(endometrium)	-	MYOCD	ENST00000443061,p.E541K|ENST00000343344,p.E831K|uc002gnn.2,p.E831K|NM_153604,p.E831K|uc002gnq.2,p.E555K|uc002gno.2,p.E879K|NM_001146312,p.E879K|ENST00000425538,p.E879K	protein_coding, nonsense_mediated_decay	uc002gnq.2	nonsynonymous SNV	exon6	c.G1663A	p.E555K	KMSDVTLLKIGSEEPHFDGIMDGFS	KMSDVTLLKIGSKEPHFDGIMDGFS	1.0	9.0	unscreened	-	3466_17:12666635-12666635 G>A_KMSDVTLLKIGSKEPHFDGIMDGFS
16:19451758-19451758 G>A	0.0	3466	MELANOMA	-	-	ID=COSM967855;OCCURENCE=1(endometrium)	-	TMC5	uc002dgb.4,p.R133Q|NM_001105249,p.R133Q|uc010vaq.2,p.R133Q|NM_001105248,p.R133Q|uc002dgc.4,p.R133Q|ENST00000542583,p.R133Q|uc010var.2,p.R133Q|NM_001261841,p.R133Q|ENST00000541464,p.R133Q|ENST00000381414,p.R133Q|ENST00000396229,p.R133Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010var.2	nonsynonymous SNV	exon3	c.G398A	p.R133Q	ASSRQPDYPGSQRNPDFAGSSSSGN	ASSRQPDYPGSQQNPDFAGSSSSGN	1.0	9.0	unscreened	-	3466_16:19451758-19451758 G>A_ASSRQPDYPGSQQNPDFAGSSSSGN
20:58606301-58606301 C>T	0.0	3466	MELANOMA	-	-	-	-	CDH26,C20orf197	uc002ybf.1,p.R310C|ENST00000244047,p.R730C	protein_coding, processed_transcript	uc002ybf.1	nonsynonymous SNV	exon8	c.C928T	p.R310C	MAETLNQSKERNRFSLSRGCIIPQG	MAETLNQSKERNCFSLSRGCIIPQG	2.0	4.0	unscreened	-	3466_20:58606301-58606301 C>T_MAETLNQSKERNCFSLSRGCIIPQG
4:47938832-47938832 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1055755;OCCURENCE=1(endometrium)	-	CNGA1	ENST00000420489,p.R560Q|ENST00000544810,p.R560Q|uc003gxt.4,p.R560Q|NM_001142564,p.R629Q|ENST00000402813,p.R629Q|ENST00000358519,p.R560Q|ENST00000514170,p.R560Q|NM_000087,p.R560Q|uc003gxu.3,p.R629Q	retained_intron, protein_coding	uc003gxu.3	nonsynonymous SNV	exon10	c.G1886A	p.R629Q	SILNIKGSKAGNRRTANIKSIGYSD	SILNIKGSKAGNQRTANIKSIGYSD	2.0	9.0	unscreened	-	3466_4:47938832-47938832 C>T_SILNIKGSKAGNQRTANIKSIGYSD
3:52556633-52556633 G>A	0.0	3466	MELANOMA	-	-	-	-	STAB1	ENST00000321725,p.E2225K|uc003del.3,p.E112K|NM_015136,p.E2225K|uc003dej.3,p.E2225K|uc003dek.1,p.E240K	retained_intron, protein_coding	uc003del.3	nonsynonymous SNV	exon5	c.G334A	p.E112K	QATSGPYGLNFSEAEAACEAQGAVL	QATSGPYGLNFSKAEAACEAQGAVL	8.0	4.0	unscreened	-	3466_3:52556633-52556633 G>A_QATSGPYGLNFSKAEAACEAQGAVL
1:197396928-197396928 G>A	0.0	3466	MELANOMA	-	-	-	-	CRB1	uc010poz.2,p.E756K|ENST00000484075,p.E825K|uc010ppd.2,p.E306K|ENST00000367397,p.E206K|NM_001193640,p.E713K|NM_201253,p.E825K|uc001gtz.3,p.E825K|ENST00000535699,p.E756K|uc001gub.1,p.E474K|ENST00000367400,p.E825K|uc009wza.3,p.E713K|ENST00000367399,p.E713K|ENST00000544212,p.E306K|NM_001257965,p.E756K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ppd.2	nonsynonymous SNV	exon3	c.G916A	p.E306K	NLGFISASTWKIEKGDVIYIGGLPD	NLGFISASTWKIKKGDVIYIGGLPD	1.0	7.0	unscreened	-	3466_1:197396928-197396928 G>A_NLGFISASTWKIKKGDVIYIGGLPD
14:75587851-75587851 G>A	1.0	3466	MELANOMA	-	-	-	-	NEK9	ENST00000557673,p.R24C|NM_033116,p.R142C|uc001xrl.3,p.R142C|ENST00000553823,p.R24C|ENST00000238616,p.R142C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xrl.3	nonsynonymous SNV	exon3	c.C424T	p.R142C	YCNGGNLYDKILRQKDKLFEEEMVV	YCNGGNLYDKILCQKDKLFEEEMVV	9.0	6.0	-	-	3466_14:75587851-75587851 G>A_YCNGGNLYDKILCQKDKLFEEEMVV
2:120395943-120395943 C>T	0.0	3466	MELANOMA	-	rs61978572	-	-	CFAP221	ENST00000602047,p.R409C|NM_001271049,p.R695C|uc031rou.1,p.R695C|ENST00000413369,p.R695C|uc002tmb.4,p.R410C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rou.1	nonsynonymous SNV	exon20	c.C2083T	p.R695C	CSHPKYKFTKESRHGSSIPVTQKQF	CSHPKYKFTKESCHGSSIPVTQKQF	1.0	7.0	unscreened	-	3466_2:120395943-120395943 C>T_CSHPKYKFTKESCHGSSIPVTQKQF
6:44274758-44274758 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1079772;OCCURENCE=1(skin),1(endometrium)	-	AARS2	ENST00000438774,p.E219K|uc003oxf.2,p.E219K	 processed_transcript,protein_coding	uc003oxf.2	nonsynonymous SNV	exon3	c.G655A	p.E219K	PWRNAQLDAGSDEEPA	PWRNAQLDAGSDKEPA	5.0	1.0	unscreened	-	3466_6:44274758-44274758 G>A_PWRNAQLDAGSDKEPA
16:76556115-76556115 G>A	0.0	3466	MELANOMA	-	-	-	-	CNTNAP4	ENST00000307431,p.G905R|ENST00000377504,p.G857R|uc002fev.1,p.G770R|ENST00000476707,p.G909R|uc010chb.1,p.G833R|ENST00000478060,p.G833R|NM_138994,p.G833R|uc002fex.1,p.G909R	retained_intron, protein_coding, processed_transcript, TEC	uc010chb.1	nonsynonymous SNV	exon16	c.G2497A	p.G833R	QLTPKTQPAPADGHVLLQLNSQLFV	QLTPKTQPAPADRHVLLQLNSQLFV	2.0	8.0	unscreened	-	3466_16:76556115-76556115 G>A_QLTPKTQPAPADRHVLLQLNSQLFV
11:26702759-26702759 C>T	0.0	3466	MELANOMA	-	-	-	-	SLC5A12	ENST00000527405,p.R253K	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000527405	nonsynonymous SNV	exon12	c.G758A	p.R253K	NRVPFCELEGCTRRSSYWNHLVILG	NRVPFCELEGCTKRSSYWNHLVILG	1.0	6.0	unscreened	-	3466_11:26702759-26702759 C>T_NRVPFCELEGCTKRSSYWNHLVILG
17:26114768-26114768 G>A	0.0	3466	MELANOMA	-	-	-	-	NOS2	ENST00000313735,p.P135S|uc010wab.1,p.P135S|uc010crh.1,p.P135S|NM_000625,p.P135S|uc002gzu.3,p.P135S	protein_coding	uc010wab.1	nonsynonymous SNV	exon5	c.C403T	p.P135S	KSLTRGPRDKPTPPDELLPQAIEFV	KSLTRGPRDKPTSPDELLPQAIEFV	1.0	9.0	unscreened	-	3466_17:26114768-26114768 G>A_KSLTRGPRDKPTSPDELLPQAIEFV
2:33518313-33518313 G>A, 2:33518314-33518314 G>A	0.0	3466	MELANOMA	-	-	-	-	LTBP1	ENST00000402934,p.G688S|ENST00000390003,p.G742S|NM_001166265,p.G688S|ENST00000404816,p.G1067S|ENST00000354476,p.G1068S|uc010ymz.2,p.G741S|uc002rou.3,p.G741S|NM_206943,p.G1067S|NM_001166266,p.G688S|NM_000627,p.G741S|ENST00000418533,p.G741S|ENST00000407925,p.G741S|uc010yna.2,p.G688S|ENST00000404525,p.G688S|uc002rov.3,p.G688S|uc021vft.1,p.G1067S|NM_001166264,p.G741S	protein_coding, processed_transcript	uc021vft.1	nonsynonymous SNV	exon20	c.G3199A	p.G1067S	NLEGSYMCSCHKGYTRTPDHKHCRD	NLEGSYMCSCHKNYTRTPDHKHCRD	8.0	6.0	unscreened	Dinucleotide variant, 2:33518314-33518314 G>A, residue 13 G>N PR	3466_2:33518313-33518313 G>A, 2:33518314-33518314 G>A_NLEGSYMCSCHKNYTRTPDHKHCRD
1:120306814-120306814 C>T	0.0	3466	MELANOMA	-	-	-	-	HMGCS2	ENST00000544913,p.M180I|uc010oxj.2,p.M180I|NM_001166107,p.M180I	protein_coding, processed_transcript	uc010oxj.2	nonsynonymous SNV	exon2	c.G540A	p.M180I	GGTASLFNAANWMESSSWDGLRGTH	GGTASLFNAANWIESSSWDGLRGTH	1.0	8.0	unscreened	-	3466_1:120306814-120306814 C>T_GGTASLFNAANWIESSSWDGLRGTH
12:22059189-22059189 C>T	0.0	3466	MELANOMA	-	-	-	-	ABCC9	uc001rfh.3,p.E497K|NM_020297,p.E497K|ENST00000544039,p.E160K|ENST00000261200,p.E497K|uc001rfi.1,p.E497K|NM_005691,p.E497K|ENST00000261201,p.E497K|ENST00000345162,p.E497K	protein_coding	uc001rfi.1	nonsynonymous SNV	exon10	c.G1489A	p.E497K	LDYSTERLKKTNEILKGIKLLKLYA	LDYSTERLKKTNKILKGIKLLKLYA	5.0	6.0	unscreened	-	3466_12:22059189-22059189 C>T_LDYSTERLKKTNKILKGIKLLKLYA
20:42693450-42693450 G>A	0.0	3466	MELANOMA	-	-	-	-	TOX2	ENST00000435864,p.E183K|ENST00000372999,p.E263K|uc010zwk.2,p.E183K|ENST00000341197,p.E305K|uc002xle.4,p.E263K|NM_001098796,p.E263K|uc010ggo.3,p.E305K|NM_032883,p.E263K|NM_001098797,p.E305K|uc010ggp.3,p.E263K|ENST00000423191,p.E263K	protein_coding	uc010zwk.2	nonsynonymous SNV	exon4	c.G547A	p.E183K	QAYKRKTEAAKKEYLKALAAYRASL	QAYKRKTEAAKKKYLKALAAYRASL	3.0	2.0	unscreened	-	3466_20:42693450-42693450 G>A_QAYKRKTEAAKKKYLKALAAYRASL
8:106811129-106811129 G>A	0.0	3466	MELANOMA	-	-	-	-	ZFPM2	uc011lhs.2,p.S37N|ENST00000517361,p.S174N|ENST00000378472,p.S37N|uc003ymd.3,p.S306N|ENST00000520492,p.S174N|ENST00000407775,p.S306N|NM_012082,p.S306N	protein_coding, processed_transcript	uc011lhs.2	nonsynonymous SNV	exon5	c.G110A	p.S37N	ISSLCPFPQCTKSFSNARALEMHLN	ISSLCPFPQCTKNFSNARALEMHLN	3.0	2.0	unscreened	-	3466_8:106811129-106811129 G>A_ISSLCPFPQCTKNFSNARALEMHLN
15:22743284-22743284 G>A	0.0	3466	MELANOMA	-	-	-	-	GOLGA6L1,GOLGA6L22	NM_001271664,p.E545K	protein_coding	NM_001271664	nonsynonymous SNV	exon9	c.G1633A	p.E545K	KIREQEEKIREQEEMMQEQEEKMGE	KIREQEEKIREQKEMMQEQEEKMGE	1.0	1.0	unscreened	-	3466_15:22743284-22743284 G>A_KIREQEEKIREQKEMMQEQEEKMGE
5:137781255-137781255 G>A	1.0	3466	MELANOMA	-	-	-	-	REEP2	ENST00000506158,p.A182T|uc011cyt.3,p.A181T|NM_016606,p.A220T|uc003lcz.4,p.A220T|uc031slg.1,p.A183T|NM_001271803,p.A222T|uc003lda.4,p.A222T|ENST00000254901,p.A220T|ENST00000378339,p.A222T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031slg.1	nonsynonymous SNV	exon7	c.G547A	p.A183T	SEDDMGDKAPKRAKPIKKAPKAEPL	SEDDMGDKAPKRTKPIKKAPKAEPL	6.0	9.0	unscreened	-	3466_5:137781255-137781255 G>A_SEDDMGDKAPKRTKPIKKAPKAEPL
2:21232139-21232139 C>T	0.0	3466	MELANOMA	-	-	-	-	APOB	NM_000384,p.R2534Q|ENST00000233242,p.R2534Q|uc002red.3,p.R2534Q	protein_coding	uc002red.3	nonsynonymous SNV	exon26	c.G7601A	p.R2534Q	RMYQMDIQQELQRYLSLVGQVYSTL	RMYQMDIQQELQQYLSLVGQVYSTL	1.0	7.0	unscreened	-	3466_2:21232139-21232139 C>T_RMYQMDIQQELQQYLSLVGQVYSTL
17:27064724-27064724 G>A	0.0	3466	MELANOMA	-	-	-	-	NEK8	ENST00000268766,p.G287R|NM_178170,p.G287R|uc002hcp.3,p.G287R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002hcp.3	nonsynonymous SNV	exon6	c.G859A	p.G287R	RRAEKSVAPSNTGSRTTSVRCRGIP	RRAEKSVAPSNTRSRTTSVRCRGIP	3.0	9.0	unscreened	-	3466_17:27064724-27064724 G>A_RRAEKSVAPSNTRSRTTSVRCRGIP
9:135545422-135545422 C>T	0.0	3466	MELANOMA	-	-	-	-	DDX31	ENST00000372153,p.R72K|ENST00000310532,p.R72K|uc004cbq.1,p.R72K|NM_022779,p.R72K|ENST00000372159,p.R72K|uc004cbs.2,p.R72K|uc004cbr.1,p.R72K|uc010mzu.1,p.R72K|NM_138620,p.R72K	protein_coding, processed_transcript	uc010mzu.1	nonsynonymous SNV	exon1	c.G215A	p.R72K	TSPYSWSRSGPGRGGGAGSSRVPRG	TSPYSWSRSGPGKGGGAGSSRVPRG	5.0	9.0	-	-	3466_9:135545422-135545422 C>T_TSPYSWSRSGPGKGGGAGSSRVPRG
14:35252434-35252434 G>A	1.0	3466	MELANOMA	-	-	ID=COSM955469;OCCURENCE=1(endometrium)	-	BAZ1A	ENST00000360310,p.R668C|uc001wsk.3,p.R668C|NM_182648,p.R636C|ENST00000382422,p.R668C|ENST00000358716,p.R636C|NM_013448,p.R668C|uc001wsl.3,p.R636C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wsl.3	nonsynonymous SNV	exon15	c.C1906T	p.R636C	HRKEREEAAARIRKRKEEKLKEQEQ	HRKEREEAAARICKRKEEKLKEQEQ	9.0	2.0	unscreened	-	3466_14:35252434-35252434 G>A_HRKEREEAAARICKRKEEKLKEQEQ
4:155410677-155410677 C>T	0.0	3466	MELANOMA	-	-	-	-	DCHS2	uc011cik.1,p.E611K|ENST00000456341,p.E604K|ENST00000443500,p.E611K|ENST00000339452,p.E611K|NM_001142552,p.E611K|uc003inx.2,p.E611K	protein_coding, processed_transcript	uc011cik.1	nonsynonymous SNV	exon1	c.G1831A	p.E611K	TAECGPSFAIDSESGAISTIRTLDR	TAECGPSFAIDSKSGAISTIRTLDR	1.0	3.0	unscreened	-	3466_4:155410677-155410677 C>T_TAECGPSFAIDSKSGAISTIRTLDR
2:178545572-178545572 T>C	0.0	3466	MELANOMA	-	-	-	-	PDE11A	NM_001077196,p.N358S|ENST00000286063,p.N802S|NM_001077358,p.N444S|NM_001077197,p.N552S|ENST00000449286,p.N444S|uc002ult.1,p.N552S|uc002ulr.3,p.N552S|uc002ulp.3,p.N358S|ENST00000409504,p.N444S|uc002ulu.1,p.N444S|ENST00000358450,p.N552S|uc002ulq.3,p.N802S|NM_016953,p.N802S|uc002uls.1,p.N444S|ENST00000389683,p.N358S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ulu.1	nonsynonymous SNV	exon15	c.A1331G	p.N444S	LVSKGEYDWNIKNHRDIFRSMLMTA	LVSKGEYDWNIKSHRDIFRSMLMTA	1.0	7.0	unscreened	-	3466_2:178545572-178545572 T>C_LVSKGEYDWNIKSHRDIFRSMLMTA
1:115161015-115161015 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1249955;OCCURENCE=1(oesophagus)	-	DENND2C	ENST00000393274,p.P439L|ENST00000393276,p.P382L|NM_198459,p.P382L|ENST00000393277,p.P439L|uc001efc.1,p.P382L|NM_001256404,p.P439L|uc001efd.1,p.P439L	protein_coding, processed_transcript	uc001efd.1	nonsynonymous SNV	exon8	c.C1316T	p.P439L	VKLHSYTGKELPPTKGETSGNESDA	VKLHSYTGKELPLTKGETSGNESDA	3.0	2.0	unscreened	-	3466_1:115161015-115161015 G>A_VKLHSYTGKELPLTKGETSGNESDA
6:70878559-70878559 G>A	0.0	3466	MELANOMA	-	-	-	-	COL19A1	ENST00000393344,p.D474N|NM_001858,p.D852N|ENST00000322773,p.D852N|uc003pfc.1,p.D852N	protein_coding, processed_transcript	uc003pfc.1	nonsynonymous SNV	exon40	c.G2554A	p.D852N	YPGPPGPPGPKGDPGPVGEPGAMGL	YPGPPGPPGPKGNPGPVGEPGAMGL	5.0	9.0	unscreened	-	3466_6:70878559-70878559 G>A_YPGPPGPPGPKGNPGPVGEPGAMGL
19:11152082-11152082 C>T	1.0	3466	MELANOMA	-	-	-	1	SMARCA4	uc002mqj.4,p.P1394S|NM_001128845,p.P1394S|NM_001128847,p.P1391S|ENST00000358026,p.P1456S|uc010dxq.3,p.P1391S|ENST00000589677,p.P1394S|ENST00000429416,p.P1424S|ENST00000450717,p.P1394S|ENST00000344626,p.P1424S|NM_001128844,p.P1424S|uc002mqh.4,p.P514S|NM_001128848,p.P1391S|ENST00000538456,p.P306S|NM_001128846,p.P1394S|NM_001128849,p.P1456S|ENST00000444061,p.P1391S|uc010dxo.3,p.P1456S|ENST00000413806,p.P1394S|NM_003072,p.P1424S|ENST00000590574,p.P1391S|ENST00000592158,p.P117S|uc002mqf.4,p.P1424S|uc010dxp.3,p.P1424S|uc010dxs.3,p.P1394S|uc010dxr.3,p.P1391S|ENST00000541122,p.P1394S	retained_intron, protein_coding, processed_transcript	uc010dxs.3	nonsynonymous SNV	exon28	c.C4180T	p.P1394S	KRKRDSDAGSSTPTTSTRSRDKDDE	KRKRDSDAGSSTSTTSTRSRDKDDE	10.0	2.0	-	-	3466_19:11152082-11152082 C>T_KRKRDSDAGSSTSTTSTRSRDKDDE
13:70281792-70281792 C>T	0.0	3466	MELANOMA	-	-	-	-	KLHL1	ENST00000377844,p.E718K|uc001vip.3,p.E718K|NM_001286725,p.E657K|ENST00000545028,p.E525K|NM_020866,p.E718K|uc010thm.2,p.E657K	protein_coding	uc010thm.2	nonsynonymous SNV	exon9	c.G1969A	p.E657K	GGYDGQTYLNTMESYDPQTNEWTQM	GGYDGQTYLNTMKSYDPQTNEWTQM	1.0	9.0	unscreened	-	3466_13:70281792-70281792 C>T_GGYDGQTYLNTMKSYDPQTNEWTQM
3:108677905-108677905 A>T	0.0	3466	MELANOMA	-	-	-	-	MORC1	ENST00000232603,p.D954E|ENST00000483760,p.D933E|uc011bhn.2,p.D933E|NM_014429,p.D954E|uc003dxl.3,p.D954E	protein_coding	uc011bhn.2	nonsynonymous SNV	exon27	c.T2799A	p.D933E	QTDTYLEALLKEDNLLFQNNLNKVT	QTDTYLEALLKEENLLFQNNLNKVT	1.0	5.0	unscreened	-	3466_3:108677905-108677905 A>T_QTDTYLEALLKEENLLFQNNLNKVT
7:83689841-83689841 C>T	1.0	3466	MELANOMA	-	-	-	-	SEMA3A	NM_006080,p.E163K|uc003uhz.3,p.E163K|ENST00000436949,p.E163K|ENST00000265362,p.E163K	protein_coding, processed_transcript	uc003uhz.3	nonsynonymous SNV	exon5	c.G487A	p.E163K	EDNIFKLENSHFENGRGKSPYDPKL	EDNIFKLENSHFKNGRGKSPYDPKL	10.0	8.0	-	-	3466_7:83689841-83689841 C>T_EDNIFKLENSHFKNGRGKSPYDPKL
X:102962354-102962354 T>G	0.0	3466	MELANOMA	-	-	-	-	GLRA4	ENST00000372617,p.E391A|NM_001024452,p.E391A|uc011mse.2,p.E391A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011mse.2	nonsynonymous SNV	exon9	c.A1172C	p.E391A	GHCLQARDGGPMEGSGIYSPQPPAP	GHCLQARDGGPMAGSGIYSPQPPAP	1.0	9.0	unscreened	-	3466_X:102962354-102962354 T>G_GHCLQARDGGPMAGSGIYSPQPPAP
7:83021910-83021910 G>A	0.0	3466	MELANOMA	-	-	-	-	SEMA3E	NM_012431,p.S543F|ENST00000307792,p.S543F|uc003uhy.2,p.S543F|uc022agy.1,p.S483F|NM_001178129,p.S483F|ENST00000427262,p.S483F	protein_coding, nonsense_mediated_decay	uc022agy.1	nonsynonymous SNV	exon14	c.C1448T	p.S483F	LARDPYCAWDGISCSRYYPTGTHAK	LARDPYCAWDGIFCSRYYPTGTHAK	4.0	8.0	unscreened	-	3466_7:83021910-83021910 G>A_LARDPYCAWDGIFCSRYYPTGTHAK
19:52003491-52003491 C>T	0.0	3466	MELANOMA	-	-	-	-	SIGLEC12	uc002pwx.1,p.G164D|ENST00000291707,p.G164D|uc002pww.1,p.G46D|ENST00000598614,p.G46D|NM_033329,p.G46D|NM_053003,p.G164D	protein_coding, nonsense_mediated_decay	uc002pwx.1	nonsynonymous SNV	exon2	c.G491A	p.G164D	RLEVPESVTVQEGLCVSVPCSVLYP	RLEVPESVTVQEDLCVSVPCSVLYP	1.0	8.0	unscreened	-	3466_19:52003491-52003491 C>T_RLEVPESVTVQEDLCVSVPCSVLYP
18:44559889-44559889 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1711307;OCCURENCE=1(skin)	-	TCEB3B	ENST00000332567,p.E583K|uc002lcr.1,p.E583K|NM_016427,p.E583K	protein_coding	uc002lcr.1	nonsynonymous SNV	exon1	c.G1747A	p.E583K	KKDNHALVRETDELRRNHCFQDFKE	KKDNHALVRETDKLRRNHCFQDFKE	1.0	5.0	unscreened	-	3466_18:44559889-44559889 C>T_KKDNHALVRETDKLRRNHCFQDFKE
7:76023021-76023021 C>T	0.0	3466	MELANOMA	-	-	-	-	SSC4D	ENST00000275560,p.R345Q|uc003ufb.3,p.R345Q|NM_080744,p.R345Q	protein_coding, processed_transcript	uc003ufb.3	nonsynonymous SNV	exon9	c.G1034A	p.R345Q	AAWAAGKKSGRLRLVGGPGPCRGRV	AAWAAGKKSGRLQLVGGPGPCRGRV	2.0	9.0	unscreened	-	3466_7:76023021-76023021 C>T_AAWAAGKKSGRLQLVGGPGPCRGRV
1:205027704-205027704 G>A	0.0	3466	MELANOMA	-	-	-	-	CNTN2	uc001hbq.1,p.E25K|uc009xbi.3,p.E25K	retained_intron, protein_coding	uc009xbi.3	nonsynonymous SNV	exon1	c.G73A	p.E25K	CLSPWSLPPVLQEFSKEERDPVKAH	CLSPWSLPPVLQKFSKEERDPVKAH	1.0	7.0	unscreened	-	3466_1:205027704-205027704 G>A_CLSPWSLPPVLQKFSKEERDPVKAH
X:114141190-114141190 G>A	0.0	3466	MELANOMA	-	-	-	-	HTR2C	NM_001256761,p.R165Q|uc004epv.1,p.R165Q|ENST00000371950,p.R165Q	protein_coding	uc004epv.1	nonsynonymous SNV	exon6	c.G494A	p.R165Q	CISSYPCDWTEGRRKGVREQHDVRA	CISSYPCDWTEGQRKGVREQHDVRA	1.0	9.0	unscreened	-	3466_X:114141190-114141190 G>A_CISSYPCDWTEGQRKGVREQHDVRA
12:104096971-104096971 G>A	0.0	3466	MELANOMA	-	-	-	-	STAB2	NM_017564,p.D1254N|ENST00000388887,p.D1254N|uc001tjw.3,p.D1254N	retained_intron, protein_coding, nonsense_mediated_decay	uc001tjw.3	nonsynonymous SNV	exon35	c.G3760A	p.D1254N	NEAPINYTNVATDKGVIHGLGKVLE	NEAPINYTNVATNKGVIHGLGKVLE	3.0	9.0	unscreened	-	3466_12:104096971-104096971 G>A_NEAPINYTNVATNKGVIHGLGKVLE
12:117665446-117665446 C>T	0.0	3466	MELANOMA	-	-	-	-	NOS1	uc001twn.2,p.G1170S|NM_001204218,p.G1170S|NM_001204214,p.G800S|ENST00000338101,p.G1170S|uc001twm.2,p.G1136S|NM_000620,p.G1136S|uc021reo.1,p.G800S|ENST00000317775,p.G1136S|uc021ren.1,p.G800S|NM_001204213,p.G800S	protein_coding, processed_transcript	uc021reo.1	nonsynonymous SNV	exon22	c.G2398A	p.G800S	EKEKQRLLVLSKGLQEYEEWKWGKN	EKEKQRLLVLSKSLQEYEEWKWGKN	1.0	9.0	unscreened	-	3466_12:117665446-117665446 C>T_EKEKQRLLVLSKSLQEYEEWKWGKN
2:113832317-113832317 C>T	0.0	3466	MELANOMA	-	-	-	-	IL1F10	ENST00000341010,p.P46S|NM_173161,p.P46S|NM_032556,p.P46S|uc002tiv.3,p.P46S|ENST00000393197,p.P46S|uc002tiu.3,p.P46S	retained_intron, protein_coding	uc002tiv.3	nonsynonymous SNV	exon3	c.C136T	p.P46S	ADNCCAEKICTLPNRGLDRTKVPIF	ADNCCAEKICTLSNRGLDRTKVPIF	1.0	2.0	unscreened	Snps within 36 nucleotides, 2:113832312-113832312 T>C, residue 11 I>T, 2:113832333-113832333 C>A, residue 18 A>D  PR	3466_2:113832317-113832317 C>T_ADNCCAEKICTLSNRGLDRTKVPIF
10:50533895-50533895 C>T	0.0	3466	MELANOMA	-	-	-	-	C10orf71	uc021pqa.2,p.S1102F|uc021pqb.1,p.S1102F|ENST00000374144,p.S1102F|NM_001135196,p.S1102F	protein_coding, processed_transcript	uc021pqb.1	nonsynonymous SNV	exon1	c.C3305T	p.S1102F	PEEPNQASPWASSSPARVTRREDLT	PEEPNQASPWASFSPARVTRREDLT	1.0	3.0	unscreened	-	3466_10:50533895-50533895 C>T_PEEPNQASPWASFSPARVTRREDLT
3:151475038-151475038 C>T	0.0	3466	MELANOMA	-	-	-	-	AADACL2	uc010hvn.3,p.P75S|NM_207365,p.P288S|ENST00000356517,p.P288S|uc003ezc.3,p.P288S	protein_coding, nonsense_mediated_decay	uc010hvn.3	nonsynonymous SNV	exon4	c.C223T	p.P75S	HLFKFVNWSILLPEKYRKDYVYTEP	HLFKFVNWSILLSEKYRKDYVYTEP	1.0	4.0	unscreened	-	3466_3:151475038-151475038 C>T_HLFKFVNWSILLSEKYRKDYVYTEP
5:13814848-13814848 G>A	0.0	3466	MELANOMA	-	-	ID=COSM228415;OCCURENCE=1(skin)	-	DNAH5	ENST00000265104,p.R2366W|uc003jfd.2,p.R2366W|NM_001369,p.R2366W	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon43	c.C7096T	p.R2366W	DDNKTLTLANGDRIPMAPNCKIIFE	DDNKTLTLANGDWIPMAPNCKIIFE	1.0	7.0	unscreened	-	3466_5:13814848-13814848 G>A_DDNKTLTLANGDWIPMAPNCKIIFE
2:182413485-182413485 G>A	0.0	3466	MELANOMA	-	-	-	-	CERKL	uc010frk.4,p.L33F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010frk.4	nonsynonymous SNV	exon5	c.C97T	p.L33F	SQPCLALVEELWLWQKNIDGCPLTN	SQPCLALVEELWFWQKNIDGCPLTN	1.0	7.0	unscreened	-	3466_2:182413485-182413485 G>A_SQPCLALVEELWFWQKNIDGCPLTN
2:230910475-230910475 C>T	0.0	3466	MELANOMA	0.0009	-	-	-	SLC16A14	ENST00000457406,p.G456E|uc002vqe.3,p.G456E|uc002vqf.3,p.G456E|ENST00000412034,p.G456E	protein_coding	uc002vqf.3	nonsynonymous SNV	exon4	c.G1367A	p.G456E	IIICANGISALLGPPFAGKLSEVLR	IIICANGISALLEPPFAGKLSEVLR	4.0	8.0	unscreened	-	3466_2:230910475-230910475 C>T_IIICANGISALLEPPFAGKLSEVLR
1:169702133-169702133 A>G	0.0	3466	MELANOMA	-	-	-	-	SELE	ENST00000367782,p.L15P|ENST00000367780,p.L15P|ENST00000333360,p.L15P|ENST00000367779,p.L15P|ENST00000367775,p.L15P|NM_000450,p.L15P|ENST00000367777,p.L15P|ENST00000367774,p.L15P|ENST00000367776,p.L15P|uc001ggm.4,p.L15P|ENST00000367781,p.L15P	protein_coding, processed_transcript	uc001ggm.4	nonsynonymous SNV	exon3	c.T44C	p.L15P	ASQFLSALTLVLLIKESGAWSYNTS	ASQFLSALTLVLPIKESGAWSYNTS	1.0	6.0	unscreened	-	3466_1:169702133-169702133 A>G_ASQFLSALTLVLPIKESGAWSYNTS
1:159778105-159778105 G>A	0.0	3466	MELANOMA	-	-	-	-	FCRL6	ENST00000339348,p.E64K|uc001fuc.2,p.E71K|ENST00000321935,p.E71K|ENST00000368106,p.E64K|uc010pix.1,p.E59K|uc001fud.4,p.E64K|uc009wsz.1,p.E64K|NM_001284217,p.E71K|ENST00000536257,p.E59K|ENST00000392235,p.E64K|NM_001004310,p.E64K|uc009wta.3,p.E64K	retained_intron, protein_coding	uc010pix.1	nonsynonymous SNV	exon3	c.G175A	p.E59K	FYRDGKFLHFSKENQTLSMGAATVQ	FYRDGKFLHFSKKNQTLSMGAATVQ	4.0	3.0	unscreened	-	3466_1:159778105-159778105 G>A_FYRDGKFLHFSKKNQTLSMGAATVQ
12:4700436-4700436 G>C	0.0	3466	MELANOMA	-	-	-	-	DYRK4	ENST00000010132,p.K30N|ENST00000543431,p.K30N|uc001qmx.3,p.K30N|ENST00000542744,p.K145N|uc001qmy.2,p.K30N|NM_003845,p.K30N|uc009zeh.1,p.K145N|ENST00000540757,p.K30N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zeh.1	nonsynonymous SNV	exon5	c.G435C	p.K145N	KTQDPKAEEKSPKKQKVTLTAAEAL	KTQDPKAEEKSPNKQKVTLTAAEAL	6.0	3.0	-	-	3466_12:4700436-4700436 G>C_KTQDPKAEEKSPNKQKVTLTAAEAL
6:87725857-87725857 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1315774;OCCURENCE=1(lung)	-	HTR1E	ENST00000369584,p.D269N|uc003pli.3,p.D269N|uc021zcg.1,p.D269N|ENST00000305344,p.D269N|NM_000865,p.D269N	protein_coding	uc021zcg.1	nonsynonymous SNV	exon1	c.G805A	p.D269N	EKFHASIRIPPFDNDLDHPGERQQI	EKFHASIRIPPFNNDLDHPGERQQI	1.0	9.0	unscreened	Additional variant within 36 nucleotides, 6:87725875-87725875 C>T, residue 19 P>S PR	3466_6:87725857-87725857 G>A_EKFHASIRIPPFNNDLDHPGERQQI
7:63726711-63726711 C>T	0.0	3466	MELANOMA	-	-	-	-	ZNF679	uc003tsx.3,p.H234Y|ENST00000255746,p.H234Y|NM_153363,p.H234Y|ENST00000421025,p.H234Y	protein_coding	uc003tsx.3	nonsynonymous SNV	exon5	c.C700T	p.H234Y	NCSSTLSKHKRIHTGEKPYRCEECG	NCSSTLSKHKRIYTGEKPYRCEECG	1.0	9.0	unscreened	-	3466_7:63726711-63726711 C>T_NCSSTLSKHKRIYTGEKPYRCEECG
1:180886201-180886201 C>T	0.0	3466	MELANOMA	-	-	-	-	KIAA1614	uc001gok.2,p.P321L|NM_020950,p.P321L|ENST00000367588,p.P321L	protein_coding, processed_transcript	uc001gok.2	nonsynonymous SNV	exon2	c.C962T	p.P321L	NVSGQSPRKVGTPAWTPSWDTAAPE	NVSGQSPRKVGTLAWTPSWDTAAPE	4.0	2.0	unscreened	-	3466_1:180886201-180886201 C>T_NVSGQSPRKVGTLAWTPSWDTAAPE
3:167039915-167039915 T>C	0.0	3466	MELANOMA	-	-	-	-	ZBBX	uc003fep.3,p.K325E|uc011bpc.2,p.K325E|NM_001199202,p.K296E|NM_024687,p.K325E|ENST00000392764,p.K296E|ENST00000392766,p.K325E|uc003feq.3,p.K296E|NM_001199201,p.K325E|ENST00000455345,p.K325E|ENST00000307529,p.K325E|ENST00000392767,p.K325E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bpc.2	nonsynonymous SNV	exon12	c.A973G	p.K325E	DILSYMEKLWLKKHRRTPQEQLFKM	DILSYMEKLWLKEHRRTPQEQLFKM	1.0	4.0	unscreened	-	3466_3:167039915-167039915 T>C_DILSYMEKLWLKEHRRTPQEQLFKM
1:152187003-152187003 C>T	0.0	3466	MELANOMA	-	rs78856265	-	-	HRNR	NM_001009931,p.E2368K|ENST00000368801,p.E2368K|uc001ezt.2,p.E2368K	protein_coding	uc001ezt.2	nonsynonymous SNV	exon3	c.G7102A	p.E2368K	QHGSGSGHSSSYEQHGSRSGQSSRG	QHGSGSGHSSSYKQHGSRSGQSSRG	1.0	1.0	unscreened	-	3466_1:152187003-152187003 C>T_QHGSGSGHSSSYKQHGSRSGQSSRG
15:94942193-94942193 A>G	0.0	3466	MELANOMA	-	-	-	-	MCTP2	ENST00000331706,p.R186G|uc002btk.4,p.R186G|ENST00000557742,p.R186G|uc010boj.3,p.R327G|ENST00000451018,p.R598G|ENST00000357742,p.R598G|uc010bok.3,p.R598G|NM_018349,p.R598G|uc002btj.3,p.R598G|NM_001159643,p.R598G|NM_001159644,p.R186G|uc002btl.3,p.R186G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bok.3	nonsynonymous SNV	exon14	c.A1792G	p.R598G	FLGKVAIPLLSIRDGQPNCYVLKNK	FLGKVAIPLLSIGDGQPNCYVLKNK	5.0	8.0	unscreened	-	3466_15:94942193-94942193 A>G_FLGKVAIPLLSIGDGQPNCYVLKNK
18:28983423-28983423 C>T	0.0	3466	MELANOMA	-	-	-	-	DSG4	ENST00000308128,p.P488S|uc002kwq.2,p.P488S|NM_001134453,p.P488S|NM_177986,p.P488S|ENST00000359747,p.P488S|uc002kwr.2,p.P488S	protein_coding	uc002kwr.2	nonsynonymous SNV	exon11	c.C1462T	p.P488S	GKTATGTICIEVPDINDYCPNIFPE	GKTATGTICIEVSDINDYCPNIFPE	1.0	6.0	unscreened	-	3466_18:28983423-28983423 C>T_GKTATGTICIEVSDINDYCPNIFPE
5:55110736-55110736 G>A	0.0	3466	MELANOMA	-	-	-	-	DDX4	ENST00000353507,p.E541K|NM_001166533,p.E555K|NM_001142549,p.E541K|ENST00000514278,p.E555K|uc003jqj.3,p.E426K|NM_001166534,p.E426K|NM_024415,p.E575K|uc003jqh.4,p.E541K|uc010ivz.3,p.E555K|ENST00000505374,p.E575K|ENST00000354991,p.E541K|ENST00000511853,p.E426K|uc003jqg.4,p.E575K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ivz.3	nonsynonymous SNV	exon19	c.G1663A	p.E555K	EKISTTSIHGDREQREREQALGDFR	EKISTTSIHGDRKQREREQALGDFR	1.0	9.0	unscreened	-	3466_5:55110736-55110736 G>A_EKISTTSIHGDRKQREREQALGDFR
1:62367115-62367115 G>A	0.0	3466	MELANOMA	-	-	-	-	INADL	ENST00000316485,p.G1122E|NM_176877,p.G1122E|ENST00000484937,p.G581E|uc001daa.2,p.G1122E|uc001dad.3,p.G819E|uc001dab.3,p.G1122E|ENST00000371158,p.G1122E|uc009waf.1,p.G1122E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009waf.1	nonsynonymous SNV	exon24	c.G3365A	p.G1122E	DSPAGKTNALKTGDKILEVSGVDLQ	DSPAGKTNALKTEDKILEVSGVDLQ	3.0	7.0	unscreened	-	3466_1:62367115-62367115 G>A_DSPAGKTNALKTEDKILEVSGVDLQ
9:34610840-34610840 G>A	1.0	3466	MELANOMA	-	-	-	-	RPP25L	NM_148179,p.P152S|uc022bgh.1,p.P152S|ENST00000297613,p.P152S|uc003zuv.3,p.P152S|ENST00000378959,p.P152S|uc003zuu.3,p.P152S|NM_148178,p.P152S	protein_coding	uc022bgh.1	nonsynonymous SNV	exon1	c.C454T	p.P152S	PGLGSMPSSSCGPRSRRRARDTRS	PGLGSMPSSSCGSRSRRRARDTRS	3.0	9.0	unscreened	-	3466_9:34610840-34610840 G>A_PGLGSMPSSSCGSRSRRRARDTRS
2:179647309-179647309 C>T	0.0	3466	MELANOMA	-	-	-	-	TTN	uc021vta.2,p.E995K|NM_133437,p.E995K|ENST00000342175,p.E995K|ENST00000360870,p.E1041K|NM_001267550,p.E1041K|ENST00000460472,p.E995K|NM_133379,p.E1041K|NM_133378,p.E1041K|ENST00000342992,p.E1041K|ENST00000591111,p.E1041K|NM_003319,p.E995K|uc021vtb.2,p.E995K|ENST00000359218,p.E995K|uc031rqc.1,p.E1041K|uc002unb.3,p.E1041K|uc021vsz.2,p.E995K|NM_133432,p.E995K|NM_001256850,p.E1041K|uc021vsy.2,p.E1041K|ENST00000589042,p.E1041K|uc031rqd.1,p.E1041K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon19	c.G3121A	p.E1041K	YLAVQVSEEFEKETTAVTEKFTTEE	YLAVQVSEEFEKKTTAVTEKFTTEE	5.0	3.0	unscreened	-	3466_2:179647309-179647309 C>T_YLAVQVSEEFEKKTTAVTEKFTTEE
15:22743284-22743284 G>A	0.0	3466	MELANOMA	-	-	-	-	GOLGA6L1,GOLGA6L22	ENST00000316397,p.E557K|ENST00000560659,p.E507K|NM_001001413,p.E557K|uc010tzx.1,p.E557K	protein_coding	uc010tzx.1	nonsynonymous SNV	exon8	c.G1669A	p.E557K	MMQEQEEKMGEQEEKMQEQEKMRRQ	MMQEQEEKMGEQKEKMQEQEKMRRQ	1.0	1.0	unscreened	-	3466_15:22743284-22743284 G>A_MMQEQEEKMGEQKEKMQEQEKMRRQ
18:61306882-61306882 A>C	0.0	3466	MELANOMA	-	-	-	-	SERPINB4	ENST00000341074,p.F200V|NM_002974,p.F200V|ENST00000436264,p.F157V|uc002ljf.3,p.F200V	retained_intron, protein_coding	uc002ljf.3	nonsynonymous SNV	exon6	c.T598G	p.F200V	NKFKKENTKEEKFWPNKNTYKSVQM	NKFKKENTKEEKVWPNKNTYKSVQM	1.0	5.0	unscreened	-	3466_18:61306882-61306882 A>C_NKFKKENTKEEKVWPNKNTYKSVQM
16:3254947-3254947 G>A	0.0	3466	MELANOMA	-	-	-	-	OR1F1	uc010uwu.2,p.R234K|ENST00000304646,p.R234K|NM_012360,p.R234K	protein_coding	uc010uwu.2	nonsynonymous SNV	exon1	c.G701A	p.R234K	TCTVLKVPSTKGRWKAFSTCGSHLA	TCTVLKVPSTKGKWKAFSTCGSHLA	2.0	2.0	unscreened	-	3466_16:3254947-3254947 G>A_TCTVLKVPSTKGKWKAFSTCGSHLA
3:191888334-191888334 C>T	0.0	3466	MELANOMA	-	-	-	-	FGF12	NM_021032,p.G176R|NM_004113,p.G114R|ENST00000448795,p.G90R|uc003fsy.3,p.G114R|ENST00000264730,p.G114R|ENST00000445105,p.G114R|ENST00000430714,p.G77R|uc003fsx.3,p.G176R|ENST00000450716,p.G114R|ENST00000454309,p.G176R|ENST00000440901,p.G71R	retained_intron, protein_coding, processed_transcript	uc003fsy.3	nonsynonymous SNV	exon5	c.G340A	p.G114R	YRQQESGRAWFLGLNKEGQIMKGNR	YRQQESGRAWFLRLNKEGQIMKGNR	2.0	5.0	unscreened	-	3466_3:191888334-191888334 C>T_YRQQESGRAWFLRLNKEGQIMKGNR
19:56319282-56319282 C>T	0.0	3466	MELANOMA	-	-	-	-	NLRP11	NM_001297743,p.G548D|ENST00000589093,p.G647D|ENST00000443188,p.G647D|ENST00000590409,p.G548D|NM_145007,p.G647D|uc010ygf.2,p.G647D|uc002qmb.3,p.G548D|ENST00000593244,p.G647D|ENST00000592953,p.G548D	protein_coding, nonsense_mediated_decay	uc010ygf.2	nonsynonymous SNV	exon6	c.G1940A	p.G647D	LRELHIFDNDLNGISERILSKALEH	LRELHIFDNDLNDISERILSKALEH	1.0	2.0	unscreened	-	3466_19:56319282-56319282 C>T_LRELHIFDNDLNDISERILSKALEH
17:10355617-10355617 C>T	0.0	3466	MELANOMA	-	-	-	-	MYH4	NM_017533,p.E1127K|uc002gmn.3,p.E1127K|ENST00000255381,p.E1127K	protein_coding	uc002gmn.3	nonsynonymous SNV	exon27	c.G3379A	p.E1127K	LQARIEELEEEIEAERASRAKAEKQ	LQARIEELEEEIKAERASRAKAEKQ	1.0	9.0	unscreened	-	3466_17:10355617-10355617 C>T_LQARIEELEEEIKAERASRAKAEKQ
3:125865699-125865699 G>A	0.0	3466	MELANOMA	-	-	-	-	ALDH1L1	uc011bki.2,p.A251V|ENST00000393431,p.A352V|uc003eim.2,p.A352V|ENST00000273450,p.A362V|ENST00000472186,p.A352V|uc031sbp.1,p.A362V|NM_001270364,p.A362V|uc003eio.3,p.A54V|ENST00000452905,p.A251V|NM_012190,p.A352V|ENST00000393434,p.A352V|uc010hsf.2,p.A378V|NM_001270365,p.A251V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031sbp.1	nonsynonymous SNV	exon9	c.C1085T	p.A362V	EVEDSTDFFKSGAASVDVVRLVEEV	EVEDSTDFFKSGVASVDVVRLVEEV	1.0	4.0	unscreened	-	3466_3:125865699-125865699 G>A_EVEDSTDFFKSGVASVDVVRLVEEV
16:10576048-10576048 G>A	0.0	3466	MELANOMA	-	-	-	-	ATF7IP2	uc002czu.3,p.R664Q|ENST00000396560,p.R664Q|ENST00000356427,p.R664Q|uc010uyp.2,p.R208Q|NM_024997,p.R664Q|ENST00000543967,p.R208Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uyp.2	nonsynonymous SNV	exon6	c.G623A	p.R208Q	YYFTVQSKDIFGRYGPFCDIKSIPG	YYFTVQSKDIFGQYGPFCDIKSIPG	4.0	2.0	unscreened	-	3466_16:10576048-10576048 G>A_YYFTVQSKDIFGQYGPFCDIKSIPG
19:49656760-49656760 C>T	0.0	3466	MELANOMA	-	-	-	-	HRC	ENST00000595625,p.E579K|ENST00000252825,p.E579K|uc002pmv.3,p.E579K|NM_002152,p.E579K	retained_intron, protein_coding	uc002pmv.3	nonsynonymous SNV	exon1	c.G1735A	p.E579K	SEEEEEEEEGLEEDEPRFTIIPNPL	SEEEEEEEEGLEKDEPRFTIIPNPL	1.0	7.0	unscreened	-	3466_19:49656760-49656760 C>T_SEEEEEEEEGLEKDEPRFTIIPNPL
7:150845992-150845992 C>T	0.0	3466	MELANOMA	-	-	-	-	GBX1	uc011kvg.2,p.G259E|ENST00000297537,p.G259E|NM_001098834,p.G259E	protein_coding	uc011kvg.2	nonsynonymous SNV	exon2	c.G776A	p.G259E	GAPVTAGVTAPGGKSRRRRTAFTSE	GAPVTAGVTAPGEKSRRRRTAFTSE	1.0	9.0	unscreened	-	3466_7:150845992-150845992 C>T_GAPVTAGVTAPGEKSRRRRTAFTSE
X:139038725-139038725 C>T	0.0	3466	MELANOMA	-	-	-	-	CXorf66	NM_001013403,p.R139K|uc004fbb.3,p.R139K|ENST00000370540,p.R139K	protein_coding	uc004fbb.3	nonsynonymous SNV	exon3	c.G416A	p.R139K	RASAQSSTEKLIRPSSLQKPSIPNS	RASAQSSTEKLIKPSSLQKPSIPNS	1.0	9.0	unscreened	-	3466_X:139038725-139038725 C>T_RASAQSSTEKLIKPSSLQKPSIPNS
17:10399779-10399779 C>T	0.0	3466	MELANOMA	-	-	-	-	MYH1	ENST00000226207,p.E1582K|NM_005963,p.E1582K|uc002gmo.3,p.E1582K	protein_coding	uc002gmo.3	nonsynonymous SNV	exon34	c.G4744A	p.E1582K	NQVKSEVDRKIAEKDEEIDQMKRNH	NQVKSEVDRKIAKKDEEIDQMKRNH	3.0	9.0	unscreened	-	3466_17:10399779-10399779 C>T_NQVKSEVDRKIAKKDEEIDQMKRNH
22:28389496-28389496 G>A	0.0	3466	MELANOMA	-	-	-	-	TTC28	NM_001145418,p.S1752F|ENST00000431039,p.S39F|ENST00000397906,p.S1752F|uc003adp.4,p.S1752F	retained_intron, protein_coding, processed_transcript	uc003adp.4	nonsynonymous SNV	exon18	c.C5255T	p.S1752F	DALRVLLHLVEKSLQRIQNGQRNAM	DALRVLLHLVEKFLQRIQNGQRNAM	4.0	7.0	unscreened	-	3466_22:28389496-28389496 G>A_DALRVLLHLVEKFLQRIQNGQRNAM
11:57982287-57982287 A>G	0.0	3466	MELANOMA	-	-	-	-	OR1S1	uc010rkc.2,p.E24G|NM_001004458,p.E24G|ENST00000309433,p.E24G	protein_coding	uc010rkc.2	nonsynonymous SNV	exon1	c.A71G	p.E24G	RNMHQGNQTTITEFILLGFFKQDEH	RNMHQGNQTTITGFILLGFFKQDEH	1.0	5.0	unscreened	-	3466_11:57982287-57982287 A>G_RNMHQGNQTTITGFILLGFFKQDEH
X:114427003-114427003 G>A	0.0	3466	MELANOMA	-	-	-	-	RBMXL3	NM_001145346,p.R1000K|uc011mte.1,p.R1000K|ENST00000424776,p.R1000K	protein_coding	uc011mte.1	nonsynonymous SNV	exon1	c.G2999A	p.R1000K	GSLPDAYSGDHDRSSNSYGRSDRYS	GSLPDAYSGDHDKSSNSYGRSDRYS	1.0	9.0	unscreened	-	3466_X:114427003-114427003 G>A_GSLPDAYSGDHDKSSNSYGRSDRYS
6:55925721-55925721 G>A	0.0	3466	MELANOMA	-	-	-	-	COL21A1	uc003pcr.3,p.P131S|uc003pcs.3,p.P774S|uc011dxh.3,p.P174S|ENST00000244728,p.P774S|ENST00000370808,p.P174S|uc011dxg.2,p.P147S|uc010jzz.3,p.P159S|NM_030820,p.P774S|ENST00000535941,p.P774S|ENST00000370819,p.P771S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxh.3	nonsynonymous SNV	exon13	c.C520T	p.P174S	PAGPKGQPGDPGPQGPPGLDGKPGR	PAGPKGQPGDPGSQGPPGLDGKPGR	1.0	9.0	unscreened	-	3466_6:55925721-55925721 G>A_PAGPKGQPGDPGSQGPPGLDGKPGR
11:100170047-100170047 T>A	0.0	3466	MELANOMA	-	-	-	-	CNTN5	ENST00000528682,p.F847I|NM_001243271,p.F847I|ENST00000279463,p.F847I|NM_001243270,p.F847I|uc021qpb.1,p.F847I|ENST00000527185,p.F847I|NM_175566,p.F773I|ENST00000418526,p.F773I|ENST00000524871,p.F847I|uc001pfz.3,p.F847I|uc010ruk.2,p.F118I|uc021qpc.1,p.F773I|NM_014361,p.F847I|uc001pga.3,p.F847I	retained_intron, protein_coding, processed_transcript	uc021qpc.1	nonsynonymous SNV	exon17	c.T2317A	p.F773I	IYRDESVPPLTPFEVKVGVYNNKGD	IYRDESVPPLTPIEVKVGVYNNKGD	1.0	6.0	unscreened	-	3466_11:100170047-100170047 T>A_IYRDESVPPLTPIEVKVGVYNNKGD
16:57755594-57755594 G>A	0.0	3466	MELANOMA	-	-	-	-	DRC7	NM_032269,p.D408N|uc002emj.3,p.D408N|ENST00000360716,p.D408N|uc002emi.3,p.D408N|uc002emk.3,p.D343N|ENST00000394337,p.D408N|NM_001289162,p.D408N|ENST00000336825,p.D343N|NM_001289163,p.D343N	retained_intron, protein_coding, nonsense_mediated_decay	uc002emk.3	nonsynonymous SNV	exon8	c.G1027A	p.D343N	EDDVENLGKEDEDKSFDMPHSWVEQ	EDDVENLGKEDENKSFDMPHSWVEQ	1.0	7.0	unscreened	-	3466_16:57755594-57755594 G>A_EDDVENLGKEDENKSFDMPHSWVEQ
7:143792901-143792901 G>A	0.0	3466	MELANOMA	-	-	-	-	OR2A12	NM_001004135,p.R234K|uc011kty.2,p.R234K|ENST00000408949,p.R234K	protein_coding	uc011kty.2	nonsynonymous SNV	exon1	c.G701A	p.R234K	VAILRIQSGEGRRKAFSTCSSHLCV	VAILRIQSGEGRKKAFSTCSSHLCV	1.0	9.0	unscreened	-	3466_7:143792901-143792901 G>A_VAILRIQSGEGRKKAFSTCSSHLCV
6:84930841-84930841 T>A, 6:84930844-84930844 A>T	1.0	3466	MELANOMA	-	-	-	-	CEP162	uc003pkk.2,p.S35T|ENST00000403245,p.S35T|uc010kbp.3,p.S35T|NM_014895,p.S35T|ENST00000435955,p.S35T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kbp.3	nonsynonymous SNV	exon3	c.T103A	p.S35T	DSFENSDKTARQSKKEMKKKDTVPW	DSFENSDKTARQTKKEMKKKDTVPW	6.0	9.0	unscreened	Additional variant within 36 nucleotides, 6:84930841-84930841 T>A, residue 14 G>X PR	3466_6:84930841-84930841 T>A, 6:84930844-84930844 A>T_DSFENSDKTARQTKKEMKKKDTVPW
11:123753948-123753948 G>A	0.0	3466	MELANOMA	-	-	-	-	TMEM225	uc001pzi.3,p.S192L|ENST00000375026,p.S192L|NM_001013743,p.S192L	protein_coding	uc001pzi.3	nonsynonymous SNV	exon4	c.C575T	p.S192L	ECKESENSIEDISLPERTAMPRSIV	ECKESENSIEDILLPERTAMPRSIV	1.0	5.0	unscreened	Snp within 36 nucleotides, 11:123753937-123753937 A>G, residue 17 C>R PR	3466_11:123753948-123753948 G>A_ECKESENSIEDILLPERTAMPRSIV
22:43614434-43614434 C>T	0.0	3466	MELANOMA	-	-	-	-	SCUBE1	ENST00000360835,p.R573Q|uc003bdt.2,p.R573Q|NM_173050,p.R573Q	protein_coding, processed_transcript	uc003bdt.2	nonsynonymous SNV	exon15	c.G1718A	p.R573Q	ASDTCEADCLRKRAEQSLQAAIKTL	ASDTCEADCLRKQAEQSLQAAIKTL	1.0	4.0	unscreened	-	3466_22:43614434-43614434 C>T_ASDTCEADCLRKQAEQSLQAAIKTL
11:32635470-32635470 C>T	0.0	3466	MELANOMA	-	-	-	-	CCDC73	ENST00000335185,p.M798I|uc001mtv.4,p.M798I|NM_001008391,p.M798I	protein_coding, processed_transcript	uc001mtv.4	nonsynonymous SNV	exon16	c.G2394A	p.M798I	ASQAKDVKTAVHMKTCTETEFSNKK	ASQAKDVKTAVHIKTCTETEFSNKK	1.0	2.0	unscreened	-	3466_11:32635470-32635470 C>T_ASQAKDVKTAVHIKTCTETEFSNKK
10:75551984-75551984 C>T	1.0	3466	MELANOMA	-	-	-	-	ZSWIM8	ENST00000492395,p.P182S|NM_001242487,p.P563S|ENST00000604729,p.P563S|NM_015037,p.P563S|ENST00000398706,p.P563S|uc001jvf.3,p.P563S|ENST00000605216,p.P563S|NM_001242488,p.P563S|ENST00000604524,p.P563S|uc001jvj.3,p.P563S|ENST00000433366,p.P563S|uc001jve.3,p.P563S|uc009xrl.3,p.P563S|ENST00000603114,p.P563S	protein_coding, processed_transcript, nonsense_mediated_decay	uc009xrl.3	nonsynonymous SNV	exon10	c.C1687T	p.P563S	GLGEGVPSSQRGPRRLSAEGGDKAL	GLGEGVPSSQRGSRRLSAEGGDKAL	9.0	7.0	unscreened	-	3466_10:75551984-75551984 C>T_GLGEGVPSSQRGSRRLSAEGGDKAL
1:205027704-205027704 G>A	0.0	3466	MELANOMA	-	-	-	-	CNTN2	NM_005076,p.E134K|uc001hbr.3,p.E134K|ENST00000331830,p.E134K	retained_intron, protein_coding	uc001hbr.3	nonsynonymous SNV	exon5	c.G400A	p.E134K	SREAILRFGFLQEFSKEERDPVKAH	SREAILRFGFLQKFSKEERDPVKAH	1.0	7.0	unscreened	-	3466_1:205027704-205027704 G>A_SREAILRFGFLQKFSKEERDPVKAH
7:31735183-31735183 A>T	0.0	3466	MELANOMA	-	-	-	-	PPP1R17	uc003tcl.3,p.K61N|NM_006658,p.K61N|ENST00000342032,p.K61N	protein_coding, processed_transcript	uc003tcl.3	nonsynonymous SNV	exon3	c.A183T	p.K61N	NVQATLNVESDQKKPRRKDTPALHI	NVQATLNVESDQNKPRRKDTPALHI	1.0	9.0	unscreened	-	3466_7:31735183-31735183 A>T_NVQATLNVESDQNKPRRKDTPALHI
6:117589634-117589634 G>A	0.0	3466	MELANOMA	-	-	-	-	VGLL2	NM_182645,p.R124K|uc003pxn.3,p.R124K|ENST00000326274,p.R124K	protein_coding	uc003pxn.3	nonsynonymous SNV	exon2	c.G371A	p.R124K	SYSPSCTSSKAPRSSGPWRDCSFPM	SYSPSCTSSKAPKSSGPWRDCSFPM	1.0	9.0	unscreened	-	3466_6:117589634-117589634 G>A_SYSPSCTSSKAPKSSGPWRDCSFPM
19:9091708-9091708 C>T	0.0	3466	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.G36E|NM_024690,p.G36E|ENST00000397910,p.G36E	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.G107A	p.G36E	TKATPEMDSGLTGATLSPKTSTGAI	TKATPEMDSGLTEATLSPKTSTGAI	1.0	3.0	unscreened	-	3466_19:9091708-9091708 C>T_TKATPEMDSGLTEATLSPKTSTGAI
19:16942454-16942454 G>A	1.0	3466	MELANOMA	-	-	-	-	SIN3B	NM_015260,p.S126N|NM_001297595,p.S126N|ENST00000248054,p.S126N|uc002new.3,p.S126N|uc002ney.2,p.S126N|ENST00000596802,p.S126N|ENST00000379803,p.S126N|uc002nez.2,p.S126N	retained_intron, protein_coding, processed_transcript	uc002nez.2	nonsynonymous SNV	exon3	c.G377A	p.S126N	KNGKLNIQSPLTSQENSHNHGDGAE	KNGKLNIQSPLTNQENSHNHGDGAE	9.0	3.0	unscreened	-	3466_19:16942454-16942454 G>A_KNGKLNIQSPLTNQENSHNHGDGAE
5:35921114-35921114 C>T	0.0	3466	MELANOMA	-	-	-	-	CAPSL	NM_001042625,p.G37S|uc003jjt.1,p.G37S|ENST00000514524,p.G37S|ENST00000397366,p.G37S|ENST00000513623,p.G37S|ENST00000397367,p.G37S|uc003jju.1,p.G37S|NM_144647,p.G37S	protein_coding	uc003jju.1	nonsynonymous SNV	exon2	c.G109A	p.G37S	PIERLRLQCLARGSAGIKGLGRVFR	PIERLRLQCLARSSAGIKGLGRVFR	1.0	7.0	unscreened	-	3466_5:35921114-35921114 C>T_PIERLRLQCLARSSAGIKGLGRVFR
9:21350330-21350330 C>T	0.0	3466	MELANOMA	-	-	-	-	IFNA6	uc011lni.2,p.R186K|ENST00000380210,p.R186K|NM_021002,p.R186K	protein_coding	uc011lni.2	nonsynonymous SNV	exon1	c.G557A	p.R186K	SFSSSRNLQERLRRKE	SFSSSRNLQERLKRKE	1.0	9.0	unscreened	-	3466_9:21350330-21350330 C>T_SFSSSRNLQERLKRKE
1:196309516-196309516 G>A	0.0	3466	MELANOMA	-	-	-	-	KCNT2	ENST00000367431,p.H530Y|NM_198503,p.H580Y|uc001gth.1,p.H101Y|ENST00000294725,p.H580Y|ENST00000451324,p.H191Y|uc009wyu.3,p.H580Y|NM_001287820,p.H530Y|ENST00000367433,p.H580Y|uc001gtd.1,p.H580Y|uc001gtf.1,p.H580Y|NM_001287819,p.H580Y|uc001gte.1,p.H530Y	protein_coding, processed_transcript	uc009wyu.3	nonsynonymous SNV	exon16	c.C1738T	p.H580Y	QQRKSNVSRSFYHGPSRLPVHSIIA	QQRKSNVSRSFYYGPSRLPVHSIIA	2.0	3.0	unscreened	-	3466_1:196309516-196309516 G>A_QQRKSNVSRSFYYGPSRLPVHSIIA
17:72540915-72540915 C>T	0.0	3466	MELANOMA	-	-	-	-	CD300C	NM_006678,p.R78K|uc002jky.2,p.R78K|ENST00000330793,p.R78K	protein_coding	uc002jky.2	nonsynonymous SNV	exon2	c.G233A	p.R78K	DKIVETKGSAGKRNGRVSIRDSPAN	DKIVETKGSAGKKNGRVSIRDSPAN	3.0	9.0	unscreened	-	3466_17:72540915-72540915 C>T_DKIVETKGSAGKKNGRVSIRDSPAN
17:27065742-27065742 G>A	0.0	3466	MELANOMA	-	-	-	-	NEK8	NM_178170,p.G426S|ENST00000268766,p.G426S|uc002hcp.3,p.G426S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002hcp.3	nonsynonymous SNV	exon9	c.G1276A	p.G426S	TFGSGSNGCLGHGSLTDISQPTIVE	TFGSGSNGCLGHSSLTDISQPTIVE	3.0	9.0	unscreened	-	3466_17:27065742-27065742 G>A_TFGSGSNGCLGHSSLTDISQPTIVE
11:8148274-8148274 C>T	0.0	3466	MELANOMA	-	-	-	-	RIC3	ENST00000396677,p.G39E|NM_024557,p.G200E|uc010rbl.1,p.G151E|ENST00000343202,p.G200E|ENST00000539720,p.G152E|uc010rbm.1,p.G229E|NM_001206671,p.G201E|uc001mgb.2,p.G39E|uc001mgd.2,p.G201E|ENST00000531450,p.G229E|uc001mgc.2,p.G200E|ENST00000309737,p.G201E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010rbm.1	nonsynonymous SNV	exon5	c.G686A	p.G229E	HQLREITRVMKEGKFIDRFSPEKEA	HQLREITRVMKEEKFIDRFSPEKEA	1.0	6.0	unscreened	-	3466_11:8148274-8148274 C>T_HQLREITRVMKEEKFIDRFSPEKEA
19:9046844-9046844 G>A	0.0	3466	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.S11596F|NM_024690,p.S11596F|uc002mkp.3,p.S11596F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon5	c.C34787T	p.S11596F	TSTTVSGTIPNFSHRGSDTAPSMVT	TSTTVSGTIPNFFHRGSDTAPSMVT	1.0	8.0	unscreened	-	3466_19:9046844-9046844 G>A_TSTTVSGTIPNFFHRGSDTAPSMVT
2:125521670-125521670 G>A	0.0	3466	MELANOMA	-	-	ID=COSM203172;OCCURENCE=1(large_intestine)	-	CNTNAP5	uc010flu.3,p.G827R|NM_130773,p.G826R|uc002tno.3,p.G826R|ENST00000431078,p.G826R	retained_intron, protein_coding, processed_transcript	uc010flu.3	nonsynonymous SNV	exon16	c.G2479A	p.G827R	DISFFFKTTALSGVFLENLGIKDFI	DISFFFKTTALSRVFLENLGIKDFI	1.0	7.0	unscreened	-	3466_2:125521670-125521670 G>A_DISFFFKTTALSRVFLENLGIKDFI
6:44116291-44116291 C>T	1.0	3466	MELANOMA	-	-	-	-	TMEM63B	uc003ows.3,p.T291I|ENST00000259746,p.T388I|uc003owr.3,p.T388I|NM_018426,p.T388I|ENST00000323267,p.T388I|uc003owq.1,p.T388I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ows.3	nonsynonymous SNV	exon11	c.C872T	p.T291I	LKDFNVCKCQGCTCRGEPRPSSCSE	LKDFNVCKCQGCICRGEPRPSSCSE	8.0	9.0	-	-	3466_6:44116291-44116291 C>T_LKDFNVCKCQGCICRGEPRPSSCSE
15:65621341-65621341 G>A	0.0	3466	MELANOMA	-	-	-	-	IGDCC3	ENST00000327987,p.P784L|uc002aor.1,p.P70L|NM_004884,p.P784L|uc002aos.2,p.P784L	retained_intron, protein_coding, processed_transcript	uc002aos.2	nonsynonymous SNV	exon14	c.C2351T	p.P784L	ATAPCAGLAAAPPPPDGGPGLLSEG	ATAPCAGLAAAPLPPDGGPGLLSEG	1.0	2.0	unscreened	-	3466_15:65621341-65621341 G>A_ATAPCAGLAAAPLPPDGGPGLLSEG
4:82058629-82058629 G>A	0.0	3466	MELANOMA	-	-	-	-	PRKG2	NM_001282481,p.R98C|NM_001282482,p.R69C|uc003hmh.2,p.R518C|uc011ccf.1,p.R98C|ENST00000418486,p.R489C|uc011ccg.1,p.R98C|ENST00000264399,p.R518C|NM_001282483,p.R38C|uc011cch.1,p.R489C|NM_001282485,p.R489C|ENST00000395578,p.R518C|ENST00000545647,p.R98C|NM_001282480,p.R98C|NM_006259,p.R518C	protein_coding, processed_transcript	uc011cch.1	nonsynonymous SNV	exon13	c.C1465T	p.R489C	EELCSPFIVKLYRTFKDNKYVYMLL	EELCSPFIVKLYCTFKDNKYVYMLL	1.0	2.0	unscreened	-	3466_4:82058629-82058629 G>A_EELCSPFIVKLYCTFKDNKYVYMLL
16:71008123-71008123 C>T	0.0	3466	MELANOMA	-	-	-	-	HYDIN	ENST00000393567,p.G1664R|uc031qwy.1,p.G1664R|NM_001270974,p.G1664R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon33	c.G4990A	p.G1664R	ETEIFEVRFDPQGANLPVGSKEVIL	ETEIFEVRFDPQRANLPVGSKEVIL	3.0	8.0	unscreened	-	3466_16:71008123-71008123 C>T_ETEIFEVRFDPQRANLPVGSKEVIL
X:69247760-69247760 C>T	0.0	3466	MELANOMA	-	-	-	-	EDA	ENST00000374552,p.P194S|NM_001005609,p.P194S|NM_001399,p.P194S|uc004dxs.3,p.P194S|uc011mpj.2,p.P194S|ENST00000374553,p.P194S|uc004dxr.3,p.P194S|NM_001005612,p.P194S|ENST00000524573,p.P194S|ENST00000503592,p.P62S	retained_intron, protein_coding, processed_transcript	uc011mpj.2	nonsynonymous SNV	exon4	c.C580T	p.P194S	PGPNGPPGPPGPPGPQGPPGIPGIP	PGPNGPPGPPGPSGPQGPPGIPGIP	1.0	9.0	unscreened	-	3466_X:69247760-69247760 C>T_PGPNGPPGPPGPSGPQGPPGIPGIP
6:36690267-36690267 G>A	0.0	3466	MELANOMA	-	-	-	-	RAB44	NM_001257357,p.E786K|ENST00000229824,p.E510K|uc010jwm.2,p.E786K	protein_coding	uc010jwm.2	nonsynonymous SNV	exon9	c.G2356A	p.E786K	QPRPSLTTAHAEEQGPPHSREPRAE	QPRPSLTTAHAEKQGPPHSREPRAE	1.0	9.0	unscreened	-	3466_6:36690267-36690267 G>A_QPRPSLTTAHAEKQGPPHSREPRAE
17:5993720-5993720 G>A	0.0	3466	MELANOMA	-	-	-	-	WSCD1	ENST00000573634,p.E92K|ENST00000317744,p.E208K|ENST00000539421,p.E208K|ENST00000574946,p.E208K|uc002gcn.3,p.E208K|NM_015253,p.E208K|uc002gco.3,p.E208K|ENST00000574232,p.E208K|uc031qyk.1,p.E92K|uc010cli.3,p.E208K	protein_coding, processed_transcript, nonsense_mediated_decay	uc031qyk.1	nonsynonymous SNV	exon3	c.G274A	p.E92K	CGNRLPAVSVGLEECNHECKGEKGS	CGNRLPAVSVGLKECNHECKGEKGS	2.0	9.0	unscreened	-	3466_17:5993720-5993720 G>A_CGNRLPAVSVGLKECNHECKGEKGS
17:10426953-10426953 C>T	0.0	3466	MELANOMA	-	-	-	-	MYH2	uc010coi.3,p.E1778K|ENST00000245503,p.E1778K|NM_017534,p.E1778K|NM_001100112,p.E1778K|uc002gmp.4,p.E1778K|ENST00000397183,p.E1778K	protein_coding	uc010coi.3	nonsynonymous SNV	exon37	c.G5332A	p.E1778K	TDAAMMAEELKKEQDTSAHLERMKK	TDAAMMAEELKKKQDTSAHLERMKK	4.0	9.0	unscreened	-	3466_17:10426953-10426953 C>T_TDAAMMAEELKKKQDTSAHLERMKK
8:10467233-10467233 C>T	0.0	3466	MELANOMA	0.0018	-	ID=COSM1582736;OCCURENCE=1(stomach),2(liver)	-	RP1L1	NM_178857,p.E1459K|uc003wtc.3,p.E1459K|ENST00000382483,p.E1459K	protein_coding, processed_transcript	uc003wtc.3	nonsynonymous SNV	exon4	c.G4375A	p.E1459K	TEEPTEPPSHLSETDPSASERQSGS	TEEPTEPPSHLSKTDPSASERQSGS	1.0	9.0	unscreened	-	3466_8:10467233-10467233 C>T_TEEPTEPPSHLSKTDPSASERQSGS
5:1420758-1420758 C>T	0.0	3466	MELANOMA	-	-	-	-	SLC6A3	ENST00000270349,p.V285I|NM_001044,p.V285I|ENST00000513308,p.V211I|uc003jck.3,p.V285I|ENST00000453492,p.V285I	retained_intron, protein_coding	uc003jck.3	nonsynonymous SNV	exon6	c.G853A	p.V285I	PYVVLTALLLRGVTLPGAIDGIRAY	PYVVLTALLLRGITLPGAIDGIRAY	1.0	6.0	unscreened	-	3466_5:1420758-1420758 C>T_PYVVLTALLLRGITLPGAIDGIRAY
3:125775250-125775250 A>C	0.0	3466	MELANOMA	-	-	-	-	SLC41A3	NM_001008487,p.L49R|uc003eii.3,p.L49R|ENST00000383598,p.L49R|ENST00000513723,p.L127R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003eii.3	nonsynonymous SNV	exon1	c.T146G	p.L49R	FTIMCQVVVPILLSGLCMMTAGLVM	FTIMCQVVVPILRSGLCMMTAGLVM	5.0	7.0	-	-	3466_3:125775250-125775250 A>C_FTIMCQVVVPILRSGLCMMTAGLVM
9:104340093-104340093 C>T	0.0	3466	MELANOMA	-	-	-	-	GRIN3A	NM_133445,p.E989K|uc004bbp.2,p.E989K|uc004bbo.2,p.E64K|uc004bbq.1,p.E989K|ENST00000361820,p.E989K	protein_coding, processed_transcript	uc004bbq.1	nonsynonymous SNV	exon8	c.G2965A	p.E989K	QRLHRAINTSFIEEKQQHFKTKRVE	QRLHRAINTSFIKEKQQHFKTKRVE	1.0	9.0	unscreened	-	3466_9:104340093-104340093 C>T_QRLHRAINTSFIKEKQQHFKTKRVE
11:56310679-56310679 C>T	0.0	3466	MELANOMA	-	-	-	-	OR5M11	NM_001005245,p.D19N|ENST00000528616,p.D19N|uc010rjl.2,p.D19N	protein_coding	uc010rjl.2	nonsynonymous SNV	exon1	c.G55A	p.D19N	SAITEFILLGLTDCPELQSLLFVLF	SAITEFILLGLTNCPELQSLLFVLF	1.0	5.0	unscreened	-	3466_11:56310679-56310679 C>T_SAITEFILLGLTNCPELQSLLFVLF
18:48241507-48241507 C>T	0.0	3466	MELANOMA	-	-	-	-	MAPK4	ENST00000592595,p.S202F|NM_001292040,p.S202F|ENST00000400384,p.S202F|uc010doz.3,p.S202F|uc002lev.3,p.S202F|NM_002747,p.S202F	protein_coding, processed_transcript	uc010doz.3	nonsynonymous SNV	exon3	c.C605T	p.S202F	VTKWYRSPRLLLSPNNYTKAIDMWA	VTKWYRSPRLLLFPNNYTKAIDMWA	1.0	5.0	unscreened	-	3466_18:48241507-48241507 C>T_VTKWYRSPRLLLFPNNYTKAIDMWA
1:110086681-110086681 G>A	0.0	3466	MELANOMA	-	-	-	-	GPR61	ENST00000404129,p.R346Q|uc001dxy.2,p.R346Q|ENST00000527748,p.R346Q|uc021orh.1,p.R346Q|NM_031936,p.R346Q|ENST00000469383,p.R346Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc021orh.1	nonsynonymous SNV	exon1	c.G1037A	p.R346Q	FTSNPFFYGCLNRQIRGELSKQFVC	FTSNPFFYGCLNQQIRGELSKQFVC	1.0	2.0	unscreened	-	3466_1:110086681-110086681 G>A_FTSNPFFYGCLNQQIRGELSKQFVC
11:17408470-17408470 G>A	0.0	3466	MELANOMA	-	-	-	-	KCNJ11	ENST00000339994,p.S390F|NM_001166290,p.S303F|ENST00000528731,p.S303F|NM_000525,p.S390F|uc001mna.3,p.S390F|uc001mnb.4,p.S303F	protein_coding, processed_transcript	uc001mnb.4	nonsynonymous SNV	exon2	c.C908T	p.S303F	AKPKFSISPDSLS	AKPKFSISPDSLF	1.0	5.0	unscreened	-	3466_11:17408470-17408470 G>A_AKPKFSISPDSLF
11:22399077-22399077 G>A	0.0	3466	MELANOMA	-	-	-	-	SLC17A6	uc001mqk.3,p.E514K|NM_020346,p.E514K|ENST00000263160,p.E514K	retained_intron, protein_coding	uc001mqk.3	nonsynonymous SNV	exon12	c.G1540A	p.E514K	KQPWADPEETSEEKCGFIHEDELDE	KQPWADPEETSEKKCGFIHEDELDE	1.0	2.0	unscreened	-	3466_11:22399077-22399077 G>A_KQPWADPEETSEKKCGFIHEDELDE
18:31326054-31326054 C>T	0.0	3466	MELANOMA	0.0009	-	ID=COSM1388508;OCCURENCE=1(large_intestine)	-	ASXL3	uc010dmg.1,p.S2081L|ENST00000269197,p.S2081L|uc002kxq.2,p.S1788L|NM_030632,p.S2081L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dmg.1	nonsynonymous SNV	exon12	c.C6242T	p.S2081L	WPQSTGICSNIKSEPLSFEEGLSSS	WPQSTGICSNIKLEPLSFEEGLSSS	1.0	6.0	unscreened	-	3466_18:31326054-31326054 C>T_WPQSTGICSNIKLEPLSFEEGLSSS
18:21422698-21422698 G>A	0.0	3466	MELANOMA	-	-	-	-	LAMA3	uc002kur.3,p.G1196E|ENST00000399516,p.G1196E|ENST00000313654,p.G1196E|uc002kuq.3,p.G1196E|NM_001127717,p.G1196E|NM_198129,p.G1196E	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc002kur.3	nonsynonymous SNV	exon29	c.G3587A	p.G1196E	EPEVAATVKVPEGKSLVLVRVLVVP	EPEVAATVKVPEEKSLVLVRVLVVP	2.0	6.0	unscreened	-	3466_18:21422698-21422698 G>A_EPEVAATVKVPEEKSLVLVRVLVVP
4:115891690-115891690 C>T	0.0	3466	MELANOMA	-	-	-	-	NDST4	NM_022569,p.E373K|uc003ibu.3,p.E373K|ENST00000264363,p.E373K	retained_intron, protein_coding, nonsense_mediated_decay	uc003ibu.3	nonsynonymous SNV	exon4	c.G1117A	p.E373K	DEGDDLLLRSVDEFWWFPHMWSHMQ	DEGDDLLLRSVDKFWWFPHMWSHMQ	1.0	5.0	unscreened	-	3466_4:115891690-115891690 C>T_DEGDDLLLRSVDKFWWFPHMWSHMQ
18:31463345-31463345 G>A	0.0	3466	MELANOMA	-	-	-	-	NOL4	NM_001198546,p.T465I|uc010xbt.2,p.T455I|ENST00000269185,p.T313I|ENST00000261592,p.T529I|uc010dmi.3,p.T529I|NM_001282527,p.T310I|ENST00000538587,p.T455I|NM_003787,p.T529I|NM_001198549,p.T244I|ENST00000535384,p.T244I|ENST00000589544,p.T427I|ENST00000590712,p.T449I|NM_001198547,p.T455I|NM_001198548,p.T427I|uc010xbu.2,p.T465I|uc010xbs.2,p.T244I|uc002kxr.4,p.T301I|uc010dmh.3,p.T391I|ENST00000535475,p.T310I|uc002kxt.4,p.T427I	protein_coding, processed_transcript, nonsense_mediated_decay	uc010xbu.2	nonsynonymous SNV	exon9	c.C1394T	p.T465I	SAPADKQCKPEATQATYSTSAVPGS	SAPADKQCKPEAIQATYSTSAVPGS	1.0	5.0	unscreened	-	3466_18:31463345-31463345 G>A_SAPADKQCKPEAIQATYSTSAVPGS
21:42840334-42840334 C>T	0.0	3466	MELANOMA	-	-	-	1	TMPRSS2	uc010gor.3,p.D472N|NM_001135099,p.D472N|ENST00000332149,p.D435N|ENST00000398585,p.D472N|ENST00000454499,p.D435N|NM_005656,p.D435N|ENST00000458356,p.D435N|uc010gos.1,p.D435N|uc002yzj.3,p.D435N	retained_intron, protein_coding, processed_transcript	uc010gos.1	nonsynonymous SNV	exon13	c.G1303A	p.D435N	AMICAGFLQGNVDSCQGDSGGPLVT	AMICAGFLQGNVNSCQGDSGGPLVT	1.0	8.0	unscreened	-	3466_21:42840334-42840334 C>T_AMICAGFLQGNVNSCQGDSGGPLVT
1:152324279-152324279 C>T	0.0	3466	MELANOMA	-	-	-	-	FLG2	uc001ezw.4,p.G1995R|ENST00000388718,p.G1995R|NM_001014342,p.G1995R	protein_coding	uc001ezw.4	nonsynonymous SNV	exon3	c.G5983A	p.G1995R	YPESGSSVHERHGTTHGQTADTTRH	YPESGSSVHERHRTTHGQTADTTRH	1.0	3.0	unscreened	-	3466_1:152324279-152324279 C>T_YPESGSSVHERHRTTHGQTADTTRH
1:159922126-159922126 G>A	0.0	3466	MELANOMA	-	-	-	-	SLAMF9	uc001fus.3,p.S197F|ENST00000368093,p.S197F|NM_033438,p.S197F	protein_coding, processed_transcript	uc001fus.3	nonsynonymous SNV	exon3	c.C590T	p.S197F	LSTSWRPGDSALSYTCRANNPISNV	LSTSWRPGDSALFYTCRANNPISNV	2.0	3.0	unscreened	-	3466_1:159922126-159922126 G>A_LSTSWRPGDSALFYTCRANNPISNV
19:45898964-45898964 G>A	1.0	3466	MELANOMA	-	-	-	-	PPP1R13L	uc002pbo.3,p.R362C|ENST00000360957,p.R362C|ENST00000418234,p.R362C|NM_001142502,p.R362C|uc002pbn.3,p.R362C|NM_006663,p.R362C|uc002pbp.2,p.R362C	retained_intron, protein_coding	uc002pbp.2	nonsynonymous SNV	exon7	c.C1084T	p.R362C	SRIPMPPSSPQPRGAPRQRPIPLSM	SRIPMPPSSPQPCGAPRQRPIPLSM	5.0	7.0	unscreened	-	3466_19:45898964-45898964 G>A_SRIPMPPSSPQPCGAPRQRPIPLSM
6:28542786-28542786 C>T	0.0	3466	MELANOMA	-	-	-	-	ZBED9	uc003nlo.3,p.E566K|NM_052923,p.E566K|ENST00000452236,p.E566K	protein_coding, processed_transcript	uc003nlo.3	nonsynonymous SNV	exon3	c.G1696A	p.E566K	DKELENTLRAQYEENIETGTDSSDI	DKELENTLRAQYKENIETGTDSSDI	1.0	9.0	unscreened	-	3466_6:28542786-28542786 C>T_DKELENTLRAQYKENIETGTDSSDI
11:10613144-10613144 C>T	0.0	3466	MELANOMA	-	-	-	-	MRVI1	NM_001100167,p.G416R|ENST00000527509,p.G640R|uc009ygd.1,p.G416R|ENST00000534266,p.G416R|NM_130385,p.G731R|NM_001206881,p.G416R|uc010rcc.1,p.G731R|ENST00000421747,p.G722R|ENST00000423302,p.G731R|NM_001100163,p.G640R|ENST00000541483,p.G525R|uc010rcb.1,p.G723R|ENST00000547195,p.G640R|uc010rcd.1,p.G525R|ENST00000558540,p.G416R|NM_001098579,p.G723R|ENST00000436272,p.G704R|ENST00000552103,p.G640R|ENST00000531107,p.G723R|uc001miz.2,p.G640R|ENST00000424001,p.G416R|NM_001206880,p.G525R|ENST00000545852,p.G416R|uc001mix.3,p.G416R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rcd.1	nonsynonymous SNV	exon17	c.G1573A	p.G525R	IPSLPALSESPNGKGSLPVTSALPA	IPSLPALSESPNRKGSLPVTSALPA	2.0	8.0	unscreened	-	3466_11:10613144-10613144 C>T_IPSLPALSESPNRKGSLPVTSALPA
12:53069140-53069140 G>A	0.0	3466	MELANOMA	-	-	-	-	KRT1	uc001sau.1,p.S591F|NM_006121,p.S591F|ENST00000252244,p.S591F|uc001sav.1,p.S584F	retained_intron, protein_coding	uc001sav.1	nonsynonymous SNV	exon10	c.C1751T	p.S584F	GSGSSSGGYRGGSGGGGGGSSGGRG	GSGSSSGGYRGGFGGGGGGSSGGRG	1.0	9.0	unscreened	-	3466_12:53069140-53069140 G>A_GSGSSSGGYRGGFGGGGGGSSGGRG
X:48542260-48542260 G>A	0.0	3466	MELANOMA	-	-	-	1	WAS	ENST00000450772,p.M6I|uc004dkm.4,p.M6I|NM_000377,p.M6I|ENST00000376701,p.M6I	protein_coding, processed_transcript	uc004dkm.4	nonsynonymous SNV	exon1	c.G18A	p.M6I	MSGGPMGGRPGGRGAPAV	MSGGPIGGRPGGRGAPAV	4.0	9.0	unscreened	-	3466_X:48542260-48542260 G>A_MSGGPIGGRPGGRGAPAV
8:141468462-141468462 C>T	0.0	3466	MELANOMA	-	-	-	-	TRAPPC9	ENST00000389328,p.D68N|NM_031466,p.D68N|uc003yvh.2,p.D68N	retained_intron, protein_coding, processed_transcript	uc003yvh.2	nonsynonymous SNV	exon1	c.G202A	p.D68N	GGYREGHRGCRRDPQWASAGPPPLS	GGYREGHRGCRRNPQWASAGPPPLS	4.0	9.0	unscreened	-	3466_8:141468462-141468462 C>T_GGYREGHRGCRRNPQWASAGPPPLS
X:73960772-73960772 C>T	0.0	3466	MELANOMA	-	-	-	-	KIAA2022	uc004eby.3,p.G1207E|NM_001008537,p.G1207E|ENST00000055682,p.G1207E|ENST00000373468,p.G1207E	protein_coding	uc004eby.3	nonsynonymous SNV	exon3	c.G3620A	p.G1207E	NTRKKSLKGNNKGIEKPPGKNSRQV	NTRKKSLKGNNKEIEKPPGKNSRQV	1.0	9.0	unscreened	-	3466_X:73960772-73960772 C>T_NTRKKSLKGNNKEIEKPPGKNSRQV
14:75587851-75587851 G>A	1.0	3466	MELANOMA	-	-	-	-	NEK9	ENST00000553945,p.R24C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000553945	nonsynonymous SNV	exon3	c.C70T	p.R24C	YCNGGNLYDKILRQKDKLFEEETPS	YCNGGNLYDKILCQKDKLFEEETPS	9.0	6.0	unscreened	-	3466_14:75587851-75587851 G>A_YCNGGNLYDKILCQKDKLFEEETPS
7:88964676-88964676 G>A	0.0	3466	MELANOMA	-	-	-	-	ZNF804B	ENST00000333190,p.E794K|uc011khi.2,p.E794K|NM_181646,p.E794K	protein_coding	uc011khi.2	nonsynonymous SNV	exon4	c.G2380A	p.E794K	ERNCKLWESFKNEKYSKRRYCHCRE	ERNCKLWESFKNKKYSKRRYCHCRE	1.0	9.0	unscreened	-	3466_7:88964676-88964676 G>A_ERNCKLWESFKNKKYSKRRYCHCRE
5:10988333-10988333 C>T	0.0	3466	MELANOMA	-	-	-	2	CTNND2	ENST00000359640,p.R1020Q|uc010itt.2,p.R987Q|NM_001288715,p.R987Q|NM_001332,p.R1078Q|NM_001288716,p.R741Q|uc011cmz.1,p.R645Q|uc011cmx.1,p.R670Q|uc003jfa.1,p.R1078Q|uc011cmy.1,p.R741Q|ENST00000503622,p.R741Q|ENST00000458100,p.R645Q|ENST00000513588,p.R857Q|ENST00000304623,p.R1078Q|ENST00000511377,p.R987Q|NM_001288717,p.R645Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cmz.1	nonsynonymous SNV	exon19	c.G1934A	p.R645Q	PNNRSASAPASPREMISLKERKTDY	PNNRSASAPASPQEMISLKERKTDY	1.0	2.0	unscreened	-	3466_5:10988333-10988333 C>T_PNNRSASAPASPQEMISLKERKTDY
10:90572914-90572914 C>T	0.0	3466	MELANOMA	-	-	-	-	LIPM	ENST00000539337,p.S69F|uc009xtn.1,p.S84F|NM_001128215,p.S109F|ENST00000404743,p.S109F|uc009xtm.1,p.S109F	protein_coding	uc009xtn.1	nonsynonymous SNV	exon4	c.C251T	p.S84F	QHGLVGGASNWISNLPNNSLGFILA	QHGLVGGASNWIFNLPNNSLGFILA	1.0	5.0	unscreened	-	3466_10:90572914-90572914 C>T_QHGLVGGASNWIFNLPNNSLGFILA
8:109796853-109796853 C>T	0.0	3466	MELANOMA	-	-	-	-	TMEM74	ENST00000297459,p.E159K|uc022azr.1,p.E159K|NM_153015,p.E159K|uc003ymy.1,p.E159K	protein_coding, processed_transcript	uc022azr.1	nonsynonymous SNV	exon1	c.G475A	p.E159K	WSQEAAISLISEEEDDTSSEATSSG	WSQEAAISLISEKEDDTSSEATSSG	1.0	9.0	unscreened	-	3466_8:109796853-109796853 C>T_WSQEAAISLISEKEDDTSSEATSSG
1:57481056-57481056 G>C	0.0	3466	MELANOMA	-	-	-	-	DAB1	uc001cyt.1,p.P313R|ENST00000420954,p.P313R|NM_021080,p.P315R|uc001cyq.1,p.P313R|ENST00000371236,p.P315R|ENST00000414851,p.P297R|ENST00000439789,p.P229R|uc001cyr.1,p.P229R|uc009vzx.1,p.P315R|uc001cys.1,p.P315R|ENST00000371231,p.P348R|uc009vzw.1,p.P297R|ENST00000371234,p.P315R	protein_coding, processed_transcript	uc009vzx.1	nonsynonymous SNV	exon12	c.C944G	p.P315R	MGAVLPSFWGQQPLVQQQMVMGAQP	MGAVLPSFWGQQRLVQQQMVMGAQP	5.0	3.0	unscreened	-	3466_1:57481056-57481056 G>C_MGAVLPSFWGQQRLVQQQMVMGAQP
19:19368862-19368862 C>T	0.0	3466	MELANOMA	-	-	-	-	HAPLN4	ENST00000291481,p.D325N|uc002nmb.3,p.D325N|uc002nmc.3,p.D325N|NM_023002,p.D325N	retained_intron, protein_coding	uc002nmc.3	nonsynonymous SNV	exon12	c.G973A	p.D325N	QLLDRCTAGWLADGSARYPIVNPRA	QLLDRCTAGWLANGSARYPIVNPRA	1.0	3.0	unscreened	-	3466_19:19368862-19368862 C>T_QLLDRCTAGWLANGSARYPIVNPRA
3:43074831-43074831 G>A	0.0	3466	MELANOMA	-	-	-	-	FAM198A	NM_001129908,p.R359Q|ENST00000273146,p.R359Q|ENST00000430121,p.R359Q|uc010hih.3,p.R332Q|uc003cmp.4,p.R359Q	retained_intron, protein_coding, nonsense_mediated_decay	uc010hih.3	nonsynonymous SNV	exon2	c.G995A	p.R332Q	VARRFHSPLLPYRYTDGGARPVIWW	VARRFHSPLLPYQYTDGGARPVIWW	1.0	4.0	unscreened	-	3466_3:43074831-43074831 G>A_VARRFHSPLLPYQYTDGGARPVIWW
1:196971620-196971620 G>A	0.0	3466	MELANOMA	-	-	ID=COSM230890;OCCURENCE=1(skin)	-	CFHR5	uc001gts.4,p.E386K|ENST00000256785,p.E386K|ENST00000367414,p.E410K|NM_030787,p.E386K	protein_coding	uc001gts.4	nonsynonymous SNV	exon8	c.G1156A	p.E386K	KWNPEVDCTEKREQFCPPPPQIPNA	KWNPEVDCTEKRKQFCPPPPQIPNA	1.0	2.0	unscreened	-	3466_1:196971620-196971620 G>A_KWNPEVDCTEKRKQFCPPPPQIPNA
2:113832317-113832317 C>T	0.0	3466	MELANOMA	-	-	-	-	IL1F10	uc002tiw.3,p.P38S|ENST00000337569,p.P46S	retained_intron, protein_coding	uc002tiw.3	nonsynonymous SNV	exon1	c.C112T	p.P38S	SLSSLLEKICTLPNRGLDRTKVPIF	SLSSLLEKICTLSNRGLDRTKVPIF	1.0	2.0	unscreened	Snps within 36 nucleotides, 2:113832312-113832312 T>C, residue 11 I>T, 2:113832333-113832333 C>A, residue 18 A>D  PR	3466_2:113832317-113832317 C>T_SLSSLLEKICTLSNRGLDRTKVPIF
9:113547272-113547272 G>A	0.0	3466	MELANOMA	-	-	-	-	MUSK	NM_001166280,p.R435K|NM_001166281,p.R425K|NM_005592,p.R521K|ENST00000374448,p.R521K|ENST00000189978,p.R521K|ENST00000416899,p.R513K|uc022blv.1,p.R521K	protein_coding	uc022blv.1	nonsynonymous SNV	exon12	c.G1562A	p.R521K	LLTITTLYCCRRRKQWKNKKRESAA	LLTITTLYCCRRKKQWKNKKRESAA	1.0	9.0	unscreened	-	3466_9:113547272-113547272 G>A_LLTITTLYCCRRKKQWKNKKRESAA
14:96887196-96887196 G>A	0.0	3466	MELANOMA	-	-	-	-	AK7	uc001yfn.3,p.R179Q|NM_152327,p.R179Q|ENST00000267584,p.R179Q	retained_intron, protein_coding, processed_transcript	uc001yfn.3	nonsynonymous SNV	exon5	c.G536A	p.R179Q	EDSEVPFTEEDYRRRKSHPNFLDHI	EDSEVPFTEEDYQRRKSHPNFLDHI	1.0	9.0	unscreened	-	3466_14:96887196-96887196 G>A_EDSEVPFTEEDYQRRKSHPNFLDHI
12:50749346-50749346 T>G	0.0	3466	MELANOMA	-	-	-	-	FAM186A	uc001rwl.2,p.Q423H|uc010smt.1,p.Q201H|ENST00000327337,p.Q423H|ENST00000543111,p.Q423H|NM_001145475,p.Q423H	protein_coding, nonsense_mediated_decay	uc010smt.1	nonsynonymous SNV	exon1	c.A603C	p.Q201H	AERTPDLTELRQQPVASEDISEDST	AERTPDLTELRQHPVASEDISEDST	1.0	9.0	unscreened	-	3466_12:50749346-50749346 T>G_AERTPDLTELRQHPVASEDISEDST
20:57415791-57415791 C>T	0.0	3466	MELANOMA	-	-	-	1	GNAS	ENST00000419558,p.P78L	retained_intron, protein_coding, processed_transcript	ENST00000419558	nonsynonymous SNV	exon1	c.C233T	p.P78L	DKDPRDPEESKEPKEEKQRRRCKPK	DKDPRDPEESKELKEEKQRRRCKPK	10.0	2.0	unscreened	-	3466_20:57415791-57415791 C>T_DKDPRDPEESKELKEEKQRRRCKPK
10:26559658-26559658 A>T	0.0	3466	MELANOMA	-	-	-	-	GAD2	uc001isp.2,p.K355N|uc001isq.2,p.K355N|ENST00000376261,p.K355N|ENST00000259271,p.K355N|NM_000818,p.K355N|NM_001134366,p.K355N	protein_coding	uc001isq.2	nonsynonymous SNV	exon10	c.A1065T	p.K355N	AFDPLLAVADICKKYKIWMHVDAAW	AFDPLLAVADICNKYKIWMHVDAAW	1.0	7.0	unscreened	-	3466_10:26559658-26559658 A>T_AFDPLLAVADICNKYKIWMHVDAAW
3:46497888-46497888 C>T	0.0	3466	MELANOMA	-	-	ID=COSM230979;OCCURENCE=1(skin)	-	LTF	NM_001199149,p.E26K|uc010hjh.3,p.E70K|ENST00000426532,p.E26K|ENST00000431944,p.E81K|NM_002343,p.E70K|uc003cpq.3,p.E70K|uc003cpr.3,p.E57K|uc003fzr.3,p.E26K|ENST00000443496,p.E57K|ENST00000415180,p.E26K|ENST00000231751,p.E70K|ENST00000417439,p.E70K	retained_intron, protein_coding, processed_transcript	uc010hjh.3	nonsynonymous SNV	exon3	c.G208A	p.E70K	RDSPIQCIQAIAENRADAVTLDGGF	RDSPIQCIQAIAKNRADAVTLDGGF	1.0	2.0	unscreened	-	3466_3:46497888-46497888 C>T_RDSPIQCIQAIAKNRADAVTLDGGF
15:75503386-75503386 C>T	1.0	3466	MELANOMA	-	-	-	-	C15orf39	ENST00000394987,p.H1025Y|uc002azq.4,p.H1025Y|ENST00000360639,p.H1025Y|NM_015492,p.H1025Y|uc002azp.4,p.H1025Y	protein_coding	uc002azq.4	nonsynonymous SNV	exon3	c.C3073T	p.H1025Y	AWLNGLALPTWGHKSSRPDQPSPCP	AWLNGLALPTWGYKSSRPDQPSPCP	6.0	8.0	-	-	3466_15:75503386-75503386 C>T_AWLNGLALPTWGYKSSRPDQPSPCP
4:122831348-122831348 C>T	0.0	3466	MELANOMA	-	-	-	-	TRPC3	NM_001130698,p.E585K|uc003ieg.2,p.E585K|NM_003305,p.E512K|uc010inr.2,p.E457K|uc011cgl.1,p.E249K|ENST00000513531,p.E457K|ENST00000264811,p.E512K|ENST00000379645,p.E585K|uc003ief.2,p.E512K	protein_coding, nonsense_mediated_decay	uc011cgl.1	nonsynonymous SNV	exon6	c.G745A	p.E249K	YVDSYVQESDLSEVTLPPEIQYFTY	YVDSYVQESDLSKVTLPPEIQYFTY	1.0	4.0	unscreened	-	3466_4:122831348-122831348 C>T_YVDSYVQESDLSKVTLPPEIQYFTY
17:4463750-4463750 C>T	0.0	3466	MELANOMA	-	-	-	-	GGT6	uc002fyd.4,p.E23K|ENST00000381550,p.E23K|NM_001122890,p.E23K|uc010vsc.2,p.E23K|NM_153338,p.E23K|NM_001288703,p.E23K|uc002fyc.4,p.E23K|ENST00000574584,p.E23K|NM_001288702,p.E23K|ENST00000574154,p.E23K|NM_001288704,p.E23K|ENST00000301395,p.E23K	retained_intron, protein_coding	uc010vsc.2	nonsynonymous SNV	exon1	c.G67A	p.E23K	QKLLPWEPSLESEEEVEEEETSEAL	QKLLPWEPSLESKEEVEEEETSEAL	1.0	9.0	unscreened	-	3466_17:4463750-4463750 C>T_QKLLPWEPSLESKEEVEEEETSEAL
8:7308422-7308422 C>T	0.0	3466	MELANOMA	-	-	-	-	SPAG11B	ENST00000398462,p.G72E|NM_058200,p.G72E|uc003wrg.1,p.G72E|NM_058201,p.G72E|ENST00000359758,p.G72E|uc003wrl.3,p.G72E	protein_coding, nonsense_mediated_decay	uc003wrl.3	nonsynonymous SNV	exon3	c.G215A	p.G72E	RDLLPPRTPPYQGDVPPGIRNTICH	RDLLPPRTPPYQEDVPPGIRNTICH	1.0	7.0	unscreened	-	3466_8:7308422-7308422 C>T_RDLLPPRTPPYQEDVPPGIRNTICH
10:98362077-98362077 C>T	0.0	3466	MELANOMA	-	-	-	-	PIK3AP1	uc001kmo.3,p.E373K|ENST00000371109,p.E373K|ENST00000339364,p.E774K|uc001kmp.3,p.E596K|ENST00000371110,p.E596K|NM_152309,p.E774K|uc001kmq.3,p.E774K	protein_coding, processed_transcript	uc001kmq.3	nonsynonymous SNV	exon16	c.G2320A	p.E774K	PPQVDGTPTMSLERPPRVPPRAASQ	PPQVDGTPTMSLKRPPRVPPRAASQ	7.0	6.0	unscreened	-	3466_10:98362077-98362077 C>T_PPQVDGTPTMSLKRPPRVPPRAASQ
19:9090794-9090794 C>T	0.0	3466	MELANOMA	-	-	-	2	MUC16	NM_024690,p.E341K|ENST00000397910,p.E341K|uc002mkp.3,p.E341K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.G1021A	p.E341K	FSMTLSNAETSAERVRSTISSLGTP	FSMTLSNAETSAKRVRSTISSLGTP	1.0	2.0	unscreened	-	3466_19:9090794-9090794 C>T_FSMTLSNAETSAKRVRSTISSLGTP
19:55870942-55870942 G>A	0.0	3466	MELANOMA	-	-	-	-	FAM71E2	ENST00000424985,p.P432S|NM_001145402,p.P432S|uc002qkr.2,p.P432S	protein_coding, nonsense_mediated_decay	uc002qkr.2	nonsynonymous SNV	exon9	c.C1294T	p.P432S	QKLPAVPASSWKPPPGLAPPQKAPA	QKLPAVPASSWKSPPGLAPPQKAPA	1.0	2.0	unscreened	-	3466_19:55870942-55870942 G>A_QKLPAVPASSWKSPPGLAPPQKAPA
19:55333143-55333143 G>A	0.0	3466	MELANOMA	-	rs201795773	-	-	KIR3DL1	ENST00000541392,p.G260E|uc002qhk.4,p.G260E|ENST00000402254,p.G260E|ENST00000391728,p.G260E|ENST00000538269,p.G260E|uc021vbo.1,p.G260E|uc010esf.3,p.G165E|NM_013289,p.G260E|uc021vbm.1,p.G260E|ENST00000358178,p.G165E|ENST00000326542,p.G260E|uc002qhl.4,p.G260E	protein_coding	uc021vbo.1	nonsynonymous SNV	exon5	c.G779A	p.G260E	SSYDMYHLSREGGAHERRLPAVRKV	SSYDMYHLSREGEAHERRLPAVRKV	1.0	8.0	unscreened	-	3466_19:55333143-55333143 G>A_SSYDMYHLSREGEAHERRLPAVRKV
1:216850658-216850658 C>T	0.0	3466	MELANOMA	-	-	-	-	ESRRG	NM_001243518,p.G83R|NM_001243510,p.G55R|uc001hla.2,p.G55R|ENST00000408911,p.G78R|NM_001243507,p.G55R|uc009xdp.1,p.G55R|NM_001243514,p.G55R|uc010puc.2,p.G55R|NM_001438,p.G78R|NM_001243519,p.G55R|NM_001243509,p.G55R|ENST00000493603,p.G55R|NM_206594,p.G55R|ENST00000469486,p.G55R|ENST00000493748,p.G55R|ENST00000359162,p.G55R|uc009xdo.2,p.G55R|NM_001243512,p.G55R|ENST00000391890,p.G55R|ENST00000366937,p.G83R|ENST00000360012,p.G55R|ENST00000463665,p.G55R|ENST00000366940,p.G55R|uc001hkz.2,p.G55R|NM_206595,p.G55R|NM_001243511,p.G55R|uc001hky.1,p.G55R|ENST00000366938,p.G55R|ENST00000487276,p.G55R|uc001hle.2,p.G55R|uc001hkw.2,p.G78R|ENST00000475275,p.G55R|ENST00000361525,p.G55R|uc001hlc.1,p.G55R|ENST00000361395,p.G55R|uc001hkx.2,p.G83R|uc001hld.1,p.G55R|NM_001243513,p.G55R|uc001hlb.2,p.G55R|NM_001134285,p.G55R|uc021piz.1,p.G55R|NM_001243515,p.G55R	protein_coding, processed_transcript, nonsense_mediated_decay	uc021piz.1	nonsynonymous SNV	exon2	c.G163A	p.G55R	GSYSSTMNGHQNGLDSPPLYPSAPI	GSYSSTMNGHQNRLDSPPLYPSAPI	1.0	3.0	unscreened	-	3466_1:216850658-216850658 C>T_GSYSSTMNGHQNRLDSPPLYPSAPI
4:123848876-123848876 G>A	1.0	3466	MELANOMA	-	-	-	-	SPATA5	NM_145207,p.R84Q|uc003iez.4,p.R84Q|uc003iey.3,p.R83Q|ENST00000274008,p.R84Q	protein_coding, processed_transcript	uc003iez.4	nonsynonymous SNV	exon2	c.G251A	p.R84Q	LNTMKSANICIGRPVLLTSLNGKQE	LNTMKSANICIGQPVLLTSLNGKQE	6.0	5.0	unscreened	-	3466_4:123848876-123848876 G>A_LNTMKSANICIGQPVLLTSLNGKQE
15:40846177-40846177 ->CTG	0.0	3466	MELANOMA	-	-	-	-	C15orf57	uc001zmb.1,p.E184delinsAE|uc001zmc.1,p.E184delinsAE|ENST00000559153,p.E184delinsAE|NM_052849,p.E184delinsAE|ENST00000416810,p.E184delinsAE|ENST00000358005,p.E184delinsAE|ENST00000559291,p.E184delinsAE|NM_001080792,p.E184delinsAE|ENST00000558750,p.E193delinsAE|NM_001080791,p.E193delinsAE|uc001zma.1,p.E193delinsAE	protein_coding, processed_transcript, nonsense_mediated_decay	uc001zmc.1	nonframeshift insertion	exon4	c.550_551insCAG	p.E184delinsAE	DEPAAGDKPAAAEQ	DEPAAGDKPAAAAEQ	4.0	3.0	unscreened	-	3466_15:40846177-40846177 ->CTG_DEPAAGDKPAAAAEQ
19:10114378-10114378 C>T	1.0	3466	MELANOMA	-	-	-	-	COL5A3	NM_015719,p.E238K|ENST00000264828,p.E238K|uc002mmq.1,p.E238K	retained_intron, protein_coding	uc002mmq.1	nonsynonymous SNV	exon6	c.G712A	p.E238K	NLAPAATVAPQGEPETPRPRRKGKG	NLAPAATVAPQGKPETPRPRRKGKG	7.0	2.0	-	-	3466_19:10114378-10114378 C>T_NLAPAATVAPQGKPETPRPRRKGKG
18:61304963-61304963 G>A	0.0	3466	MELANOMA	-	-	-	-	SERPINB4	NM_002974,p.S388L|uc002ljf.3,p.S388L|ENST00000356424,p.S336L|ENST00000341074,p.S388L|uc002lje.3,p.S367L|uc002ljg.3,p.S388L|NM_175041,p.S367L	retained_intron, protein_coding	uc002ljg.3	nonsynonymous SNV	exon7	c.C1163T	p.S388L	NKTNSILFYGRFSSP	NKTNSILFYGRFLSP	1.0	5.0	unscreened	-	3466_18:61304963-61304963 G>A_NKTNSILFYGRFLSP
4:122079883-122079883 C>T	0.0	3466	MELANOMA	-	-	-	-	TNIP3	ENST00000057513,p.D58N|ENST00000454328,p.D58N|uc011cgj.2,p.D128N|uc021xrj.1,p.D135N|NM_024873,p.D58N|NM_001128843,p.D128N|uc010ing.3,p.D58N|uc010ini.3,p.D58N|ENST00000507879,p.D128N|NM_001244764,p.D135N|ENST00000509841,p.D135N	retained_intron, protein_coding, processed_transcript	uc021xrj.1	nonsynonymous SNV	exon6	c.G403A	p.D135N	QRKELLEVNQQWDQQFRSMKELYER	QRKELLEVNQQWNQQFRSMKELYER	2.0	5.0	unscreened	-	3466_4:122079883-122079883 C>T_QRKELLEVNQQWNQQFRSMKELYER
13:24890275-24890275 G>A	0.0	3466	MELANOMA	-	-	-	-	C1QTNF9	ENST00000332018,p.R45Q|uc001upj.3,p.R45Q|ENST00000382071,p.R45Q|NM_178540,p.R45Q	protein_coding	uc001upj.3	nonsynonymous SNV	exon2	c.G134A	p.R45Q	NPGHNGLPGRDGRDGAKGDKGDAGE	NPGHNGLPGRDGQDGAKGDKGDAGE	1.0	9.0	unscreened	-	3466_13:24890275-24890275 G>A_NPGHNGLPGRDGQDGAKGDKGDAGE
6:137245493-137245493 G>A	0.0	3466	MELANOMA	-	-	-	-	SLC35D3	ENST00000331858,p.E304K|uc003qhe.3,p.E304K|NM_001008783,p.E304K	protein_coding	uc003qhe.3	nonsynonymous SNV	exon2	c.G910A	p.E304K	LGSIIYCVAKFMETRKQSNYEDLEA	LGSIIYCVAKFMKTRKQSNYEDLEA	1.0	9.0	unscreened	-	3466_6:137245493-137245493 G>A_LGSIIYCVAKFMKTRKQSNYEDLEA
12:81741383-81741383 C>T	0.0	3466	MELANOMA	-	-	-	-	PPFIA2	uc031qiv.1,p.G622R|ENST00000443686,p.G622R|NM_001220476,p.G721R|uc031qiu.1,p.G647R|NM_001220478,p.G622R|ENST00000333447,p.G703R|uc031qiq.1,p.G703R|uc031qis.1,p.G721R|NM_001220479,p.G288R|ENST00000552948,p.G721R|ENST00000548586,p.G721R|NM_001220475,p.G721R|uc031qim.1,p.G721R|uc031qio.1,p.G721R|uc031qix.1,p.G721R|ENST00000407050,p.G647R|ENST00000549396,p.G721R|uc031qip.1,p.G721R|NM_001220473,p.G721R|uc031qil.1,p.G622R|ENST00000549325,p.G703R|ENST00000541570,p.G288R|uc031qiy.1,p.G721R|ENST00000550359,p.G568R|uc031qik.1,p.G647R|uc031qii.1,p.G288R|uc031qih.1,p.G288R|NM_003625,p.G721R|NM_001282536,p.G568R|uc031qir.1,p.G721R|uc031qin.1,p.G703R|ENST00000550584,p.G721R|NM_001220474,p.G703R|uc031qiw.1,p.G721R|NM_001220477,p.G647R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qiy.1	nonsynonymous SNV	exon16	c.G2161A	p.G721R	TASSLASSSPPSGHSTPKLTPRSPA	TASSLASSSPPSRHSTPKLTPRSPA	3.0	9.0	unscreened	-	3466_12:81741383-81741383 C>T_TASSLASSSPPSRHSTPKLTPRSPA
10:28229677-28229677 C>T	0.0	3466	MELANOMA	-	-	-	-	ARMC4	ENST00000537576,p.E293K|NM_001290021,p.E126K|ENST00000305242,p.E601K|uc010qds.2,p.E126K|ENST00000545014,p.E126K|NM_018076,p.E601K|uc009xky.3,p.E601K|NM_001290020,p.E601K|uc010qdt.2,p.E293K|uc010qdu.1,p.E293K|uc001itz.3,p.E601K	protein_coding, processed_transcript	uc010qdu.1	nonsynonymous SNV	exon8	c.G877A	p.E293K	HDSTKPAQSSLYEARDVEVARCGAL	HDSTKPAQSSLYKARDVEVARCGAL	1.0	3.0	unscreened	-	3466_10:28229677-28229677 C>T_HDSTKPAQSSLYKARDVEVARCGAL
14:20711911-20711911 C>T	0.0	3466	MELANOMA	0.0005	-	ID=COSM276462;OCCURENCE=1(large_intestine)	-	OR11H4	NM_001004479,p.R321C|uc010tld.2,p.R321C|ENST00000315409,p.R321C	protein_coding	uc010tld.2	nonsynonymous SNV	exon1	c.C961T	p.R321C	LALRNVLFGMRIRQNS	LALRNVLFGMRICQNS	1.0	4.0	unscreened	-	3466_14:20711911-20711911 C>T_LALRNVLFGMRICQNS
15:74426030-74426030 C>T	0.0	3466	MELANOMA	-	-	-	-	ISLR2	NM_001130137,p.T312I|ENST00000419208,p.T312I|uc021sqe.1,p.T312I|uc002axd.3,p.T312I|ENST00000565540,p.T312I|uc010bjf.3,p.T312I|uc002axe.3,p.T312I|uc010bjg.3,p.T312I|NM_001130138,p.T312I|ENST00000435464,p.T312I|NM_001130136,p.T312I|ENST00000361742,p.T312I|ENST00000453268,p.T312I|ENST00000565159,p.T312I|NM_020851,p.T312I|ENST00000445793,p.T312I	protein_coding, processed_transcript	uc021sqe.1	nonsynonymous SNV	exon1	c.C935T	p.T312I	GEGEGDGDLLTQTQAQTPTPAPAWP	GEGEGDGDLLTQIQAQTPTPAPAWP	2.0	2.0	unscreened	-	3466_15:74426030-74426030 C>T_GEGEGDGDLLTQIQAQTPTPAPAWP
3:148558528-148558528 C>T	0.0	3466	MELANOMA	-	-	ID=COSM222006;OCCURENCE=1(skin)	-	CPB1	ENST00000468341,p.R110C|ENST00000491148,p.R110C|ENST00000282957,p.R110C|uc003ewl.3,p.R110C|NM_001871,p.R110C	retained_intron, protein_coding, processed_transcript	uc003ewl.3	nonsynonymous SNV	exon4	c.C328T	p.R110C	RNVVEAQFDSRVRATGHSYEKYNKW	RNVVEAQFDSRVCATGHSYEKYNKW	1.0	4.0	unscreened	-	3466_3:148558528-148558528 C>T_RNVVEAQFDSRVCATGHSYEKYNKW
5:35659250-35659250 G>A	0.0	3466	MELANOMA	-	-	-	-	SPEF2	ENST00000356031,p.E370K|uc003jjo.3,p.E370K|NM_024867,p.E370K|ENST00000440995,p.E370K|ENST00000509059,p.E370K|ENST00000282469,p.E370K|uc003jjn.1,p.E370K|uc003jjq.4,p.E370K|NM_144722,p.E370K	retained_intron, protein_coding, nonsense_mediated_decay	uc003jjq.4	nonsynonymous SNV	exon8	c.G1108A	p.E370K	EKEVLWQNRIFREKQHEERRLKDFQ	EKEVLWQNRIFRKKQHEERRLKDFQ	6.0	8.0	unscreened	-	3466_5:35659250-35659250 G>A_EKEVLWQNRIFRKKQHEERRLKDFQ
6:138655985-138655985 G>A	0.0	3466	MELANOMA	-	-	-	-	KIAA1244	uc003qhu.3,p.R2001Q|NM_020340,p.R2001Q|ENST00000251691,p.R2001Q	protein_coding	uc003qhu.3	nonsynonymous SNV	exon33	c.G6002A	p.R2001Q	PPSPKVEKKDPSRKKEWWENAGNKI	PPSPKVEKKDPSQKKEWWENAGNKI	2.0	9.0	unscreened	-	3466_6:138655985-138655985 G>A_PPSPKVEKKDPSQKKEWWENAGNKI
10:49982695-49982695 G>A	0.0	3466	MELANOMA	-	-	-	-	WDFY4	uc001jha.4,p.A916T|NM_020945,p.A916T|ENST00000413659,p.A916T|ENST00000325239,p.A916T	protein_coding, processed_transcript	uc001jha.4	nonsynonymous SNV	exon14	c.G2746A	p.A916T	RLIRIFEKLASQAIEPDVLRQFLGL	RLIRIFEKLASQTIEPDVLRQFLGL	4.0	5.0	unscreened	-	3466_10:49982695-49982695 G>A_RLIRIFEKLASQTIEPDVLRQFLGL
4:71509424-71509424 C>T	0.0	3466	MELANOMA	-	-	-	-	ENAM	ENST00000396073,p.P761S|NM_031889,p.P761S|uc011caw.1,p.P761S	retained_intron, protein_coding, processed_transcript	uc011caw.1	nonsynonymous SNV	exon9	c.C2281T	p.P761S	NNAAGPEESTLFPSRNSWDHRIQAQ	NNAAGPEESTLFSSRNSWDHRIQAQ	1.0	6.0	unscreened	-	3466_4:71509424-71509424 C>T_NNAAGPEESTLFSSRNSWDHRIQAQ
2:99438563-99438563 C>T	0.0	3466	MELANOMA	-	-	-	-	KIAA1211L	uc002szf.1,p.E725K|ENST00000397899,p.E725K|NM_207362,p.E725K	protein_coding, processed_transcript	uc002szf.1	nonsynonymous SNV	exon7	c.G2173A	p.E725K	VRLERSLTVLPKEEKCPLGTAPALR	VRLERSLTVLPKKEKCPLGTAPALR	1.0	2.0	unscreened	-	3466_2:99438563-99438563 C>T_VRLERSLTVLPKKEKCPLGTAPALR
4:124323480-124323480 C>T	0.0	3466	MELANOMA	-	-	-	-	SPRY1	ENST00000394339,p.P245L|NM_005841,p.P245L|uc003ifa.4,p.P245L|uc021xro.1,p.P245L|uc031sgz.1,p.P245L|NM_001258038,p.P245L|NM_001258039,p.P245L|uc003ifb.4,p.P245L|ENST00000339241,p.P245L|NM_199327,p.P245L|uc031sgy.1,p.P245L	protein_coding, processed_transcript	uc031sgz.1	nonsynonymous SNV	exon2	c.C734T	p.P245L	SNDDEGDSYSDNPCSCSQSHCCSRY	SNDDEGDSYSDNLCSCSQSHCCSRY	9.0	6.0	unscreened	-	3466_4:124323480-124323480 C>T_SNDDEGDSYSDNLCSCSQSHCCSRY
1:103428256-103428256 G>A	1.0	3466	MELANOMA	-	-	-	-	COL11A1	NM_001854,p.P993S|NM_001190709,p.P954S|uc001duk.3,p.P189S|ENST00000358392,p.P1005S|uc001dun.3,p.P954S|ENST00000512756,p.P877S|NM_080630,p.P877S|ENST00000370096,p.P993S|uc001dum.3,p.P1005S|uc001dul.3,p.P993S|uc009weh.3,p.P877S|ENST00000353414,p.P954S|NM_080629,p.P1005S	retained_intron, protein_coding, processed_transcript	uc009weh.3	nonsynonymous SNV	exon37	c.C2629T	p.P877S	IGERGHPGPPGPPGEQGLPGAAGKE	IGERGHPGPPGPSGEQGLPGAAGKE	10.0	3.0	-	-	3466_1:103428256-103428256 G>A_IGERGHPGPPGPSGEQGLPGAAGKE
4:138451538-138451538 C>T	0.0	3466	MELANOMA	-	-	-	-	PCDH18	ENST00000507846,p.E349K|ENST00000344876,p.E569K|NM_019035,p.E569K|uc003ihf.4,p.E562K|uc003ihe.4,p.E569K|uc003ihg.4,p.E349K|NM_001300828,p.E569K|ENST00000412923,p.E569K	protein_coding	uc003ihg.4	nonsynonymous SNV	exon2	c.G1045A	p.E349K	VSNTTVVLTIIDENDNVPVVIGPAL	VSNTTVVLTIIDKNDNVPVVIGPAL	5.0	5.0	unscreened	-	3466_4:138451538-138451538 C>T_VSNTTVVLTIIDKNDNVPVVIGPAL
2:79312367-79312367 G>A	0.0	3466	MELANOMA	-	-	-	-	REG1B	NM_006507,p.S159F|ENST00000305089,p.S159F|uc002sny.2,p.S159F	retained_intron, protein_coding	uc002sny.2	nonsynonymous SNV	exon6	c.C476T	p.S159F	KKWKDESCEKKFSFVCKFKN	KKWKDESCEKKFFFVCKFKN	1.0	6.0	unscreened	-	3466_2:79312367-79312367 G>A_KKWKDESCEKKFFFVCKFKN
15:54307936-54307936 G>A	0.0	3466	MELANOMA	-	-	-	-	UNC13C	ENST00000545554,p.E946K|NM_001080534,p.E946K|ENST00000537900,p.E946K|ENST00000260323,p.E946K|uc021sms.1,p.E946K|uc021smr.1,p.E946K	retained_intron, protein_coding	uc021sms.1	nonsynonymous SNV	exon1	c.G2836A	p.E946K	GLEPLNETSAEMEIREDENQNIPEQ	GLEPLNETSAEMKIREDENQNIPEQ	1.0	2.0	unscreened	-	3466_15:54307936-54307936 G>A_GLEPLNETSAEMKIREDENQNIPEQ
12:4919721-4919721 C>T	0.0	3466	MELANOMA	-	-	-	-	KCNA6	uc021qtr.1,p.P172S|NM_002235,p.P172S|ENST00000280684,p.P172S|ENST00000433855,p.P172S|uc001qng.3,p.P172S	protein_coding	uc021qtr.1	nonsynonymous SNV	exon1	c.C514T	p.P172S	VWLLFEYPESSGPARGIAIVSVLVI	VWLLFEYPESSGSARGIAIVSVLVI	1.0	5.0	unscreened	-	3466_12:4919721-4919721 C>T_VWLLFEYPESSGSARGIAIVSVLVI
3:50927466-50927466 C>T	0.0	3466	MELANOMA	-	-	-	-	DOCK3	uc011bds.2,p.P58S|ENST00000266037,p.P58S|NM_004947,p.P58S	protein_coding	uc011bds.2	nonsynonymous SNV	exon4	c.C172T	p.P58S	VSTKKPNVKGIFPANYIHLKKAIVS	VSTKKPNVKGIFSANYIHLKKAIVS	1.0	5.0	unscreened	-	3466_3:50927466-50927466 C>T_VSTKKPNVKGIFSANYIHLKKAIVS
1:201355731-201355731 C>T	0.0	3466	MELANOMA	-	-	-	-	LAD1	uc009wzu.1,p.R275K|NM_005558,p.R253K|uc001gwm.3,p.R253K|ENST00000391967,p.R253K|ENST00000367313,p.R267K	protein_coding, processed_transcript	uc009wzu.1	nonsynonymous SNV	exon4	c.G824A	p.R275K	KSLAPGMALGSGRRLVSEKASIFEK	KSLAPGMALGSGKRLVSEKASIFEK	1.0	2.0	unscreened	-	3466_1:201355731-201355731 C>T_KSLAPGMALGSGKRLVSEKASIFEK
10:17088035-17088035 G>A	0.0	3466	MELANOMA	-	-	-	-	CUBN	uc001ioo.3,p.P1130S|ENST00000377833,p.P1130S|NM_001081,p.P1130S	protein_coding	uc001ioo.3	nonsynonymous SNV	exon24	c.C3388T	p.P1130S	PLLGIFYGSNLPPTIISHSNKLWLK	PLLGIFYGSNLPSTIISHSNKLWLK	5.0	5.0	unscreened	-	3466_10:17088035-17088035 G>A_PLLGIFYGSNLPSTIISHSNKLWLK
20:58411576-58411576 C>T	0.0	3466	MELANOMA	-	-	-	-	PHACTR3	ENST00000395639,p.P338S|uc002yax.3,p.P338S|ENST00000395636,p.P408S|NM_001281507,p.P408S|ENST00000361300,p.P338S|NM_183244,p.P408S|NM_001199505,p.P446S|uc002yat.3,p.P446S|uc010zzw.2,p.P408S|NM_001199506,p.P408S|NM_080672,p.P449S|ENST00000355648,p.P408S|ENST00000541461,p.P408S|NM_183246,p.P338S|uc002yav.3,p.P408S|uc002yaw.3,p.P408S|ENST00000371015,p.P449S|ENST00000359926,p.P446S|uc002yau.3,p.P449S	retained_intron, protein_coding	uc010zzw.2	nonsynonymous SNV	exon9	c.C1222T	p.P408S	IEMKLSKRLSQRPAVEELERRNILK	IEMKLSKRLSQRSAVEELERRNILK	1.0	7.0	unscreened	-	3466_20:58411576-58411576 C>T_IEMKLSKRLSQRSAVEELERRNILK
20:58411576-58411576 C>T	0.0	3466	MELANOMA	-	-	-	-	PHACTR3	uc002yay.3,p.P18S	retained_intron, protein_coding	uc002yay.3	nonsynonymous SNV	exon1	c.C52T	p.P18S	ILVFFRRRLSQRPAVEELERRNILK	ILVFFRRRLSQRSAVEELERRNILK	1.0	7.0	unscreened	-	3466_20:58411576-58411576 C>T_ILVFFRRRLSQRSAVEELERRNILK
2:202352379-202352379 C>T	0.0	3466	MELANOMA	-	-	-	-	ALS2CR11	ENST00000286195,p.E610K|uc002uyf.3,p.E1807K|ENST00000439140,p.E1807K|NM_152525,p.E610K|uc002uye.3,p.E610K|NM_001168221,p.E1807K	protein_coding, processed_transcript	uc002uyf.3	nonsynonymous SNV	exon16	c.G5419A	p.E1807K	GLVHINDKTSDYEMHKMRPKKIKRG	GLVHINDKTSDYKMHKMRPKKIKRG	3.0	8.0	unscreened	-	3466_2:202352379-202352379 C>T_GLVHINDKTSDYKMHKMRPKKIKRG
2:21228465-21228465 G>A	0.0	3466	MELANOMA	-	-	-	-	APOB	NM_000384,p.P3759S|uc002red.3,p.P3759S|ENST00000233242,p.P3759S	protein_coding	uc002red.3	nonsynonymous SNV	exon26	c.C11275T	p.P3759S	PTFHVPFTDLQVPSCKLDFREIQIY	PTFHVPFTDLQVSSCKLDFREIQIY	1.0	6.0	unscreened	-	3466_2:21228465-21228465 G>A_PTFHVPFTDLQVSSCKLDFREIQIY
X:140996161-140996161 G>A	0.0	3466	MELANOMA	-	-	-	-	MAGEC1	ENST00000406005,p.E58K|uc022cfi.1,p.E650K|ENST00000285879,p.E991K|NM_005462,p.E991K|uc004fbt.3,p.E991K|uc010nsl.2,p.E58K	protein_coding	uc022cfi.1	nonsynonymous SNV	exon1	c.G1948A	p.E650K	TLDLTSEGCLSDEQGMSQNRLLILI	TLDLTSEGCLSDKQGMSQNRLLILI	1.0	9.0	unscreened	-	3466_X:140996161-140996161 G>A_TLDLTSEGCLSDKQGMSQNRLLILI
19:40581454-40581454 G>A	0.0	3466	MELANOMA	-	-	-	-	ZNF780A	NM_001142578,p.H299Y|uc002omz.3,p.H299Y|ENST00000340963,p.H299Y|NM_001010880,p.H299Y|ENST00000594395,p.H300Y|ENST00000450241,p.H265Y|ENST00000455521,p.H300Y|uc002omy.3,p.H299Y|ENST00000595687,p.H299Y|uc010xvh.2,p.H300Y|NM_001142577,p.H300Y	protein_coding, non_stop_decay	uc010xvh.2	nonsynonymous SNV	exon6	c.C898T	p.H300Y	NRGAHLIQHQKIHSNEKPFVCKECG	NRGAHLIQHQKIYSNEKPFVCKECG	5.0	7.0	unscreened	-	3466_19:40581454-40581454 G>A_NRGAHLIQHQKIYSNEKPFVCKECG
2:207173792-207173792 C>T	0.0	3466	MELANOMA	-	-	-	-	ZDBF2	NM_020923,p.P1514S|uc031rqy.1,p.P1512S|uc002vbp.2,p.P1514S|NM_001285549,p.P1512S|ENST00000374423,p.P1514S	protein_coding	uc031rqy.1	nonsynonymous SNV	exon7	c.C4534T	p.P1512S	SDVPFQIVVNQFPGSVKETHLPKVV	SDVPFQIVVNQFSGSVKETHLPKVV	5.0	6.0	unscreened	-	3466_2:207173792-207173792 C>T_SDVPFQIVVNQFSGSVKETHLPKVV
2:167168140-167168140 C>T	1.0	3466	MELANOMA	-	-	-	-	SCN9A	ENST00000303354,p.D43N|ENST00000409435,p.D43N|ENST00000375387,p.D43N|NM_002977,p.D43N|ENST00000409672,p.D43N|uc010fpl.3,p.D43N	retained_intron, protein_coding	uc010fpl.3	nonsynonymous SNV	exon2	c.G127A	p.D43N	KSKEPKEEKKDDDEEAPKPSSDLEA	KSKEPKEEKKDDNEEAPKPSSDLEA	6.0	2.0	unscreened	-	3466_2:167168140-167168140 C>T_KSKEPKEEKKDDNEEAPKPSSDLEA
18:59195335-59195335 G>A	0.0	3466	MELANOMA	-	-	-	-	CDH20	ENST00000536675,p.E385K|uc002lif.2,p.E379K|ENST00000262717,p.E385K|ENST00000538374,p.E385K|NM_031891,p.E385K|uc010dps.1,p.E385K	protein_coding	uc010dps.1	nonsynonymous SNV	exon6	c.G1153A	p.E385K	TTTVHISVEDVDEPPVFEPGFYFVE	TTTVHISVEDVDKPPVFEPGFYFVE	1.0	4.0	unscreened	-	3466_18:59195335-59195335 G>A_TTTVHISVEDVDKPPVFEPGFYFVE
11:5461810-5461810 G>A	0.0	3466	MELANOMA	-	-	-	-	OR51I1	ENST00000380211,p.S312F|uc010qze.2,p.S312F|NM_001005288,p.S312F	protein_coding	uc010qze.2	nonsynonymous SNV	exon1	c.C935T	p.S312F	EIRKGILKFFHKSQA	EIRKGILKFFHKFQA	1.0	8.0	unscreened	-	3466_11:5461810-5461810 G>A_EIRKGILKFFHKFQA
3:146167102-146167102 G>A	0.0	3466	MELANOMA	-	-	-	-	PLSCR2	NM_001199978,p.S252F|ENST00000497985,p.S252F|NM_020359,p.S179F|NM_001199979,p.S248F|ENST00000336685,p.S179F|uc003evw.2,p.S248F|uc003evv.2,p.S179F|uc021xfa.1,p.S252F	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xfa.1	nonsynonymous SNV	exon8	c.C755T	p.S252F	EQIVVGRISKHWSGFLREAFTDADN	EQIVVGRISKHWFGFLREAFTDADN	1.0	4.0	unscreened	-	3466_3:146167102-146167102 G>A_EQIVVGRISKHWFGFLREAFTDADN
3:38139308-38139308 C>T	0.0	3466	MELANOMA	-	-	-	-	DLEC1	NM_007335,p.S880F|NM_007337,p.S880F|ENST00000346219,p.S880F|uc003cho.1,p.S880F|uc010hgv.1,p.S880F|uc003chp.1,p.S880F|ENST00000452631,p.S880F|ENST00000308059,p.S880F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hgv.1	nonsynonymous SNV	exon18	c.C2639T	p.S880F	FGLLRLGQKATNSIQIRNVSQLPAT	FGLLRLGQKATNFIQIRNVSQLPAT	1.0	5.0	unscreened	-	3466_3:38139308-38139308 C>T_FGLLRLGQKATNFIQIRNVSQLPAT
19:3162963-3162963 G>T	0.0	3466	MELANOMA	-	-	-	-	GNA15	NM_002068,p.K357N|uc002lxf.2,p.K357N|ENST00000262958,p.K357N	retained_intron, protein_coding, nonsense_mediated_decay	uc002lxf.2	nonsynonymous SNV	exon7	c.G1071T	p.K357N	CATDTQNIRKVFKDVRDSVLARYLD	CATDTQNIRKVFNDVRDSVLARYLD	4.0	7.0	unscreened	-	3466_19:3162963-3162963 G>T_CATDTQNIRKVFNDVRDSVLARYLD
16:24231368-24231368 G>A	0.0	3466	MELANOMA	-	-	-	2	PRKCB	NM_212535,p.M650I|uc002dmd.3,p.M650I|ENST00000321728,p.M650I	retained_intron, protein_coding, processed_transcript	uc002dmd.3	nonsynonymous SNV	exon17	c.G1950A	p.M650I	PVELTPTDKLFIMNLDQNEFAGFSY	PVELTPTDKLFIINLDQNEFAGFSY	5.0	4.0	unscreened	-	3466_16:24231368-24231368 G>A_PVELTPTDKLFIINLDQNEFAGFSY
11:59224693-59224693 C>T	0.0	3466	MELANOMA	0.0027	-	-	-	OR4D6	ENST00000300127,p.S87L|uc010rku.2,p.S87L|NM_001004708,p.S87L	protein_coding	uc010rku.2	nonsynonymous SNV	exon1	c.C260T	p.S87L	SITVPKFLVDLLSDRKTISYNGCMA	SITVPKFLVDLLLDRKTISYNGCMA	1.0	4.0	unscreened	Snp within 36 nucleotides, 11:59224720-59224720 A>G, residue 22 D>G PR	3466_11:59224693-59224693 C>T_SITVPKFLVDLLLDRKTISYNGCMA
X:83129126-83129126 A>T	0.0	3466	MELANOMA	-	-	-	-	CYLC1	ENST00000329312,p.K470N|uc004eeh.2,p.K469N|NM_021118,p.K470N|uc004eei.2,p.K470N	protein_coding	uc004eei.2	nonsynonymous SNV	exon4	c.A1410T	p.K470N	KKDEKKGKKDSKKDDKKKDAKKNAE	KKDEKKGKKDSKNDDKKKDAKKNAE	1.0	9.0	unscreened	-	3466_X:83129126-83129126 A>T_KKDEKKGKKDSKNDDKKKDAKKNAE
7:72892521-72892521 G>A	1.0	3466	MELANOMA	-	-	-	-	BAZ1B	NM_032408,p.P424S|ENST00000404251,p.P424S|ENST00000339594,p.P424S|uc003tyc.3,p.P424S	retained_intron, protein_coding	uc003tyc.3	nonsynonymous SNV	exon7	c.C1270T	p.P424S	LNGQKSTGNSKSPKKGLKTPKTKMK	LNGQKSTGNSKSSKKGLKTPKTKMK	10.0	8.0	-	-	3466_7:72892521-72892521 G>A_LNGQKSTGNSKSSKKGLKTPKTKMK
14:70518766-70518766 G>A	0.0	3466	MELANOMA	-	-	-	-	SLC8A3	ENST00000357887,p.P656S|ENST00000533541,p.P15S|NM_183002,p.P658S|uc001xlu.3,p.P15S|uc001xlx.3,p.P656S|uc001xlv.3,p.P29S|uc001xlz.3,p.P652S|ENST00000356921,p.P652S|NM_001130417,p.P29S|NM_182936,p.P15S|NM_182932,p.P652S|ENST00000394330,p.P15S|NM_058240,p.P655S|ENST00000534137,p.P655S|ENST00000381269,p.P658S|ENST00000216568,p.P29S|ENST00000528359,p.P656S|uc001xlw.3,p.P655S|uc001xly.3,p.P658S|uc001xma.2,p.P15S|NM_033262,p.P656S	protein_coding, processed_transcript, nonsense_mediated_decay	uc001xma.2	nonsynonymous SNV	exon2	c.C43T	p.P15S	EEEAKRIAEMGKPVLGEHPKLEVII	EEEAKRIAEMGKSVLGEHPKLEVII	1.0	5.0	unscreened	-	3466_14:70518766-70518766 G>A_EEEAKRIAEMGKSVLGEHPKLEVII
10:21076225-21076225 G>A, 10:21076226-21076226 G>A	0.0	3466	MELANOMA	-	-	-	-	NEBL	NM_006393,p.P925L|uc001iqi.3,p.P925L|ENST00000377122,p.P925L	retained_intron, protein_coding, processed_transcript	uc001iqi.3	nonsynonymous SNV	exon27	c.C2774T	p.P925L	VTRPSDEGAPVLPGAYQQSHSQGYG	VTRPSDEGAPVLFGAYQQSHSQGYG	2.0	7.0	unscreened	Dinucleotide variant 10:21076226-21076226 G>A, residue 13 P>F PR	3466_10:21076225-21076225 G>A, 10:21076226-21076226 G>A_VTRPSDEGAPVLFGAYQQSHSQGYG
4:94436477-94436477 G>A	0.0	3466	MELANOMA	-	-	-	-	GRID2	ENST00000510992,p.S608N|ENST00000282020,p.S703N|uc011cdt.2,p.S703N|NM_001286838,p.S608N|uc011cdu.2,p.S608N|NM_001510,p.S703N	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cdu.2	nonsynonymous SNV	exon12	c.G1823A	p.S608N	VRMKGLNPFERDSMYSQMWRMINRS	VRMKGLNPFERDNMYSQMWRMINRS	1.0	5.0	unscreened	-	3466_4:94436477-94436477 G>A_VRMKGLNPFERDNMYSQMWRMINRS
4:68934460-68934460 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1694441;OCCURENCE=1(skin)	-	TMPRSS11F	uc003hdt.1,p.E211K|NM_207407,p.E211K|ENST00000356291,p.E211K	protein_coding	uc003hdt.1	nonsynonymous SNV	exon7	c.G631A	p.E211K	ASSSTQRIVQGRETAMEGEWPWQAS	ASSSTQRIVQGRKTAMEGEWPWQAS	1.0	2.0	unscreened	-	3466_4:68934460-68934460 C>T_ASSSTQRIVQGRKTAMEGEWPWQAS
16:3119309-3119309 G>A	1.0	3466	MELANOMA	-	-	-	-	IL32	ENST00000396887,p.E117K|uc002ctk.3,p.E117K|ENST00000551122,p.E117K|ENST00000549213,p.E117K|NM_001012633,p.E117K	retained_intron, protein_coding	uc002ctk.3	nonsynonymous SNV	exon8	c.G349A	p.E117K	CDKSYGAPRGDKEELTPQKCSEPQS	CDKSYGAPRGDKKELTPQKCSEPQS	10.0	2.0	unscreened	-	3466_16:3119309-3119309 G>A_CDKSYGAPRGDKKELTPQKCSEPQS
15:50489783-50489783 G>A	0.0	3466	MELANOMA	-	-	-	-	SLC27A2	NM_003645,p.D189N|uc001zxw.3,p.D189N|ENST00000267842,p.D189N|ENST00000380902,p.D189N|uc010bes.3,p.D189N|NM_001159629,p.D189N	retained_intron, protein_coding	uc010bes.3	nonsynonymous SNV	exon2	c.G565A	p.D189N	VSIYYVSRTSNTDGIDSFLDKVDEV	VSIYYVSRTSNTNGIDSFLDKVDEV	2.0	8.0	unscreened	-	3466_15:50489783-50489783 G>A_VSIYYVSRTSNTNGIDSFLDKVDEV
1:190423866-190423866 C>T	0.0	3466	MELANOMA	-	-	-	-	BRINP3	ENST00000534846,p.D14N|uc010pot.1,p.D14N	protein_coding, processed_transcript	uc010pot.1	nonsynonymous SNV	exon2	c.G40A	p.D14N	PQAPSTGSSLIRDPSIAHRNTQILW	PQAPSTGSSLIRNPSIAHRNTQILW	1.0	2.0	unscreened	-	3466_1:190423866-190423866 C>T_PQAPSTGSSLIRNPSIAHRNTQILW
16:68014037-68014037 G>A	0.0	3466	MELANOMA	-	-	ID=COSM398949;OCCURENCE=2(liver),1(lung)	-	DPEP3	uc002evc.4,p.R108C|uc010cex.3,p.R108C|NM_022357,p.R108C|ENST00000268793,p.R108C|NM_001129758,p.R108C	protein_coding, processed_transcript	uc010cex.3	nonsynonymous SNV	exon1	c.C322T	p.R108C	TPGTPKTLDLRGRAQALMRSFPLVD	TPGTPKTLDLRGCAQALMRSFPLVD	1.0	3.0	unscreened	-	3466_16:68014037-68014037 G>A_TPGTPKTLDLRGCAQALMRSFPLVD
11:68154146-68154146 G>A	0.0	3466	MELANOMA	-	-	-	-	LRP5	ENST00000294304,p.E460K|NM_002335,p.E460K|uc001ont.3,p.E460K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ont.3	nonsynonymous SNV	exon6	c.G1378A	p.E460K	TSRKILVSEDLDEPRAIALHPVMGL	TSRKILVSEDLDKPRAIALHPVMGL	2.0	6.0	unscreened	-	3466_11:68154146-68154146 G>A_TSRKILVSEDLDKPRAIALHPVMGL
3:160156057-160156057 C>T	0.0	3466	MELANOMA	-	-	-	-	TRIM59	ENST00000483754,p.M305I|uc003fdm.3,p.M305I|uc021xgt.1,p.M305I|ENST00000543469,p.M305I|ENST00000309784,p.M305I|NM_173084,p.M305I	protein_coding	uc021xgt.1	nonsynonymous SNV	exon1	c.G915A	p.M305I	EIGQIKNVLIPKMKISPKRMSCSWP	EIGQIKNVLIPKIKISPKRMSCSWP	5.0	5.0	unscreened	-	3466_3:160156057-160156057 C>T_EIGQIKNVLIPKIKISPKRMSCSWP
19:50461674-50461674 G>A	0.0	3466	MELANOMA	-	-	-	-	SIGLEC11	NM_052884,p.T506I|ENST00000447370,p.T506I|uc010ybh.2,p.T506I	protein_coding, nonsense_mediated_decay	uc010ybh.2	nonsynonymous SNV	exon8	c.C1517T	p.T506I	LEGNSSQGSFEVTPSSAGPWANSSL	LEGNSSQGSFEVIPSSAGPWANSSL	1.0	4.0	unscreened	-	3466_19:50461674-50461674 G>A_LEGNSSQGSFEVIPSSAGPWANSSL
1:178491499-178491499 G>A	0.0	3466	MELANOMA	-	-	-	-	TEX35	ENST00000319416,p.G209E|uc001glt.2,p.G209E|NM_032126,p.G209E	protein_coding, nonsense_mediated_decay	uc001glt.2	nonsynonymous SNV	exon9	c.G626A	p.G209E	NIPSEASGLYKGGEEPVTTQPSVGH	NIPSEASGLYKGEEEPVTTQPSVGH	1.0	7.0	unscreened	-	3466_1:178491499-178491499 G>A_NIPSEASGLYKGEEEPVTTQPSVGH
3:114014634-114014634 G>A	0.0	3466	MELANOMA	0.0005	-	ID=COSM296339;OCCURENCE=1(large_intestine)	-	TIGIT	ENST00000481065,p.D169N|ENST00000461158,p.D81N|uc003ebg.2,p.D102N|ENST00000484319,p.D81N|NM_173799,p.D102N|ENST00000486257,p.D102N|ENST00000383671,p.D102N	retained_intron, protein_coding, processed_transcript	uc003ebg.2	nonsynonymous SNV	exon2	c.G304A	p.D102N	GLGLTLQSLTVNDTGEYFCIYHTYP	GLGLTLQSLTVNNTGEYFCIYHTYP	5.0	5.0	unscreened	-	3466_3:114014634-114014634 G>A_GLGLTLQSLTVNNTGEYFCIYHTYP
18:31684117-31684117 C>T	0.0	3466	MELANOMA	-	-	-	-	NOL4	uc002kxt.4,p.G178E|uc010dmh.3,p.G104E|uc002kxr.4,p.G14E|uc010dmi.3,p.G178E|NM_001198548,p.G178E|ENST00000589544,p.G178E|ENST00000538587,p.G104E|ENST00000269185,p.G64E|ENST00000590712,p.G162E|uc010xbu.2,p.G178E|ENST00000535475,p.G23E|NM_003787,p.G178E|NM_001198547,p.G104E|NM_001198546,p.G178E|NM_001282527,p.G23E|ENST00000261592,p.G178E|uc010xbt.2,p.G104E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010xbu.2	nonsynonymous SNV	exon4	c.G533A	p.G178E	HLNPDGTDHKDNGKPPTLVTSMIDY	HLNPDGTDHKDNEKPPTLVTSMIDY	1.0	4.0	unscreened	-	3466_18:31684117-31684117 C>T_HLNPDGTDHKDNEKPPTLVTSMIDY
15:29429345-29429345 C>T	0.0	3466	MELANOMA	-	-	-	-	FAM189A1	uc001zcn.2,p.G32D|ENST00000261275,p.G228D|NM_015307,p.G228D|uc010azk.1,p.G228D	retained_intron, protein_coding, processed_transcript	uc010azk.1	nonsynonymous SNV	exon6	c.G683A	p.G228D	SHPANPTCVTPHGTVLHQTLDFDEF	SHPANPTCVTPHDTVLHQTLDFDEF	1.0	3.0	unscreened	-	3466_15:29429345-29429345 C>T_SHPANPTCVTPHDTVLHQTLDFDEF
4:166405673-166405673 G>A	0.0	3466	MELANOMA	-	-	ID=COSM32970;OCCURENCE=1(large_intestine)	-	CPE	NM_001873,p.R297Q|ENST00000402744,p.R297Q|uc003irg.4,p.R297Q	protein_coding, nonsense_mediated_decay	uc003irg.4	nonsynonymous SNV	exon5	c.G890A	p.R297Q	YSSFNPAMSDPNRPPCRKNDDDSSF	YSSFNPAMSDPNQPPCRKNDDDSSF	7.0	4.0	unscreened	-	3466_4:166405673-166405673 G>A_YSSFNPAMSDPNQPPCRKNDDDSSF
3:120973786-120973786 G>A	0.0	3466	MELANOMA	-	-	ID=COSM225175;OCCURENCE=1(NS)	-	STXBP5L	ENST00000497029,p.E496K|ENST00000471454,p.E496K|uc011bji.2,p.E496K|ENST00000471262,p.E496K|NM_014980,p.E496K|uc003eec.4,p.E496K|ENST00000472879,p.E496K|ENST00000273666,p.E496K|ENST00000492541,p.E496K	protein_coding, nonsense_mediated_decay	uc011bji.2	nonsynonymous SNV	exon16	c.G1486A	p.E496K	QMLYKLKTSKVFEKQKVGEGKQTCE	QMLYKLKTSKVFKKQKVGEGKQTCE	1.0	9.0	unscreened	-	3466_3:120973786-120973786 G>A_QMLYKLKTSKVFKKQKVGEGKQTCE
14:59112992-59112992 G>A	0.0	3466	MELANOMA	-	-	-	-	DACT1	uc010trv.2,p.E270K|ENST00000556859,p.E270K|uc001xdw.3,p.E551K|ENST00000335867,p.E551K|NM_001079520,p.E514K|uc010trw.2,p.E270K|ENST00000395153,p.E514K|uc001xdx.3,p.E514K|NM_016651,p.E551K|ENST00000395151,p.E270K|ENST00000541264,p.E270K	protein_coding, processed_transcript	uc010trw.2	nonsynonymous SNV	exon4	c.G808A	p.E270K	DFKSEGSSQSLEEAHLVKAQFIPGQ	DFKSEGSSQSLEKAHLVKAQFIPGQ	5.0	5.0	unscreened	-	3466_14:59112992-59112992 G>A_DFKSEGSSQSLEKAHLVKAQFIPGQ
5:1033579-1033579 C>T	0.0	3466	MELANOMA	-	-	-	-	NKD2	uc010itf.2,p.P99S|uc003jbt.2,p.P99S|ENST00000274150,p.P99S|ENST00000537972,p.P99S|ENST00000296849,p.P99S|NM_001271082,p.P99S|NM_033120,p.P99S	retained_intron, protein_coding	uc010itf.2	nonsynonymous SNV	exon5	c.C295T	p.P99S	ADDGERAANREGPRGPGGQRLNIDA	ADDGERAANREGSRGPGGQRLNIDA	2.0	8.0	unscreened	-	3466_5:1033579-1033579 C>T_ADDGERAANREGSRGPGGQRLNIDA
17:45297316-45297316 G>A	0.0	3466	MELANOMA	-	-	-	-	MYL4	ENST00000571981,p.R61K|ENST00000570772,p.R61K	protein_coding, nonsense_mediated_decay	ENST00000571981	nonsynonymous SNV	exon3	c.G182A	p.R61K	RPFHCLTGPRLER	RPFHCLTGPRLEK	3.0	9.0	unscreened	-	3466_17:45297316-45297316 G>A_RPFHCLTGPRLEK
2:231226365-231226365 G>A	1.0	3466	MELANOMA	-	-	-	-	SP140L	ENST00000444636,p.R159Q|ENST00000396563,p.R159Q|ENST00000243810,p.R159Q|uc010fxn.2,p.R72Q|NM_138402,p.R159Q|ENST00000415673,p.R159Q|uc010fxm.1,p.R159Q|ENST00000458341,p.R72Q	retained_intron, protein_coding	uc010fxn.2	nonsynonymous SNV	exon4	c.G215A	p.R72Q	AIQDKLSFQESDRKEREERPDIKLS	AIQDKLSFQESDQKEREERPDIKLS	8.0	8.0	-	-	3466_2:231226365-231226365 G>A_AIQDKLSFQESDQKEREERPDIKLS
20:44166704-44166704 C>T	0.0	3466	MELANOMA	0.0005	-	-	-	EPPIN-WFDC6,WFDC6	ENST00000555685,p.E141K|uc010zxc.2,p.E141K|NM_001198986,p.E141K|ENST00000504988,p.E141K	retained_intron, protein_coding,protein_coding	uc010zxc.2	nonsynonymous SNV	exon4	c.G421A	p.E141K	NKQPCPKIKVECEVEEIDQCTKPRD	NKQPCPKIKVECKVEEIDQCTKPRD	1.0	6.0	unscreened	-	3466_20:44166704-44166704 C>T_NKQPCPKIKVECKVEEIDQCTKPRD
20:44166704-44166704 C>T	0.0	3466	MELANOMA	0.0005	-	-	-	EPPIN-WFDC6,WFDC6	NM_080827,p.E41K|uc002xos.1,p.E41K|ENST00000600168,p.E41K|ENST00000372665,p.E41K|ENST00000372670,p.E41K	retained_intron, protein_coding,protein_coding	uc002xos.1	nonsynonymous SNV	exon2	c.G121A	p.E41K	LGKPCPKIKVECEVEEIDQCTKPRD	LGKPCPKIKVECKVEEIDQCTKPRD	1.0	6.0	unscreened	-	3466_20:44166704-44166704 C>T_LGKPCPKIKVECKVEEIDQCTKPRD
8:87241945-87241945 C>T	0.0	3466	MELANOMA	-	-	-	-	SLC7A13	ENST00000297524,p.E188K|uc003ydr.1,p.E188K|uc003ydq.1,p.E188K|NM_138817,p.E188K|ENST00000419776,p.E188K	protein_coding, processed_transcript	uc003ydr.1	nonsynonymous SNV	exon1	c.G562A	p.E188K	LTGVVFLIRGKKENVERFQNAFDAE	LTGVVFLIRGKKKNVERFQNAFDAE	1.0	8.0	unscreened	-	3466_8:87241945-87241945 C>T_LTGVVFLIRGKKKNVERFQNAFDAE
22:35478642-35478642 C>T	0.0	3466	MELANOMA	-	-	-	2	ISX	ENST00000404699,p.L121F|uc003anj.3,p.L121F|ENST00000308700,p.L121F|NM_001008494,p.L121F	protein_coding	uc003anj.3	nonsynonymous SNV	exon2	c.C361T	p.L121F	VHIRSQLAARINLPEARVQIWFQNQ	VHIRSQLAARINFPEARVQIWFQNQ	1.0	6.0	unscreened	-	3466_22:35478642-35478642 C>T_VHIRSQLAARINFPEARVQIWFQNQ
10:88446924-88446924 C>T	0.0	3466	MELANOMA	-	-	-	-	LDB3	ENST00000429277,p.T263I|NM_001171610,p.T263I|uc009xsy.3,p.T263I|NM_001080114,p.T148I|NM_001080116,p.T148I|uc001kdr.3,p.T148I|NM_001171611,p.T263I|ENST00000372066,p.T148I|ENST00000263066,p.T148I|uc001kdu.3,p.T148I|ENST00000372056,p.T263I|uc010qmm.2,p.T263I|ENST00000458213,p.T148I	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qmm.2	nonsynonymous SNV	exon6	c.C788T	p.T263I	KPIEVKGLGGKATIIHAQYNTPISM	KPIEVKGLGGKAIIIHAQYNTPISM	2.0	4.0	unscreened	-	3466_10:88446924-88446924 C>T_KPIEVKGLGGKAIIIHAQYNTPISM
12:55252022-55252022 C>T	0.0	3466	MELANOMA	-	-	-	-	MUCL1	ENST00000546809,p.P85L|NM_058173,p.P90L|uc001sgk.3,p.P90L|ENST00000308796,p.P90L	retained_intron, protein_coding, processed_transcript	uc001sgk.3	nonsynonymous SNV	exon4	c.C269T	p.P90L	KWVGDLPNGRVCP	KWVGDLPNGRVCL	1.0	9.0	unscreened	-	3466_12:55252022-55252022 C>T_KWVGDLPNGRVCL
16:71209524-71209524 G>A	0.0	3466	MELANOMA	-	-	-	-	HYDIN	ENST00000448089,p.P168S|uc002ezw.4,p.P185S|ENST00000538248,p.P195S|ENST00000448691,p.P168S|NM_001198543,p.P185S|ENST00000393550,p.P168S|ENST00000393567,p.P168S|NM_017558,p.P168S|ENST00000288168,p.P185S|uc031qwy.1,p.P168S|NM_001270974,p.P168S|uc010vmc.2,p.P185S|ENST00000541601,p.P185S|ENST00000321489,p.P168S|uc021tkq.2,p.P168S|uc010vmd.2,p.P195S|NM_001198542,p.P195S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon5	c.C502T	p.P168S	PGVPSIFRILFTPEENKDYAHTLTC	PGVPSIFRILFTSEENKDYAHTLTC	3.0	2.0	unscreened	-	3466_16:71209524-71209524 G>A_PGVPSIFRILFTSEENKDYAHTLTC
18:61306882-61306882 A>C	0.0	3466	MELANOMA	-	-	-	-	SERPINB4	ENST00000356424,p.F200V	retained_intron, protein_coding	ENST00000356424	nonsynonymous SNV	exon6	c.T598G	p.F200V	NKFKKENTKEEKFWPNKLEEKLTAE	NKFKKENTKEEKVWPNKLEEKLTAE	1.0	5.0	unscreened	-	3466_18:61306882-61306882 A>C_NKFKKENTKEEKVWPNKLEEKLTAE
10:55755411-55755411 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1702446,COSM1702444,COSM1702443,COSM1702445;OCCURENCE=1(skin)	-	PCDH15	uc001jjw.3,p.P956S|ENST00000373955,p.P956S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jjw.3	nonsynonymous SNV	exon21	c.C2866T	p.P956S	PITTVYAEDADPPVSRRH	PITTVYAEDADPSVSRRH	1.0	4.0	unscreened	-	3466_10:55755411-55755411 G>A_PITTVYAEDADPSVSRRH
2:116101464-116101464 G>A	0.0	3466	MELANOMA	-	-	-	-	DPP10	NM_001004360,p.D76N|ENST00000393146,p.D79N|uc002tlc.2,p.D79N|NM_020868,p.D83N|ENST00000436732,p.D33N|NM_001178034,p.D87N|ENST00000410059,p.D83N|ENST00000409163,p.D33N|ENST00000310323,p.D76N|uc002tlb.2,p.D33N|uc002tle.3,p.D87N|NM_001178036,p.D33N|uc002tlf.2,p.D76N|ENST00000393147,p.D87N|ENST00000419287,p.D33N|uc002tla.2,p.D83N|NM_001178037,p.D79N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tlf.2	nonsynonymous SNV	exon3	c.G226A	p.D76N	LEDLFRKDFVLHDPEARWINDTDVV	LEDLFRKDFVLHNPEARWINDTDVV	1.0	8.0	unscreened	-	3466_2:116101464-116101464 G>A_LEDLFRKDFVLHNPEARWINDTDVV
19:9091006-9091006 G>A	0.0	3466	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.P270L|NM_024690,p.P270L|uc002mkp.3,p.P270L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.C809T	p.P270L	LSTTGYPFSSPEPGSAGHSRISTSA	LSTTGYPFSSPELGSAGHSRISTSA	1.0	7.0	unscreened	-	3466_19:9091006-9091006 G>A_LSTTGYPFSSPELGSAGHSRISTSA
8:105440282-105440282 C>T	0.0	3466	MELANOMA	-	-	-	-	DPYS	ENST00000351513,p.D340N|uc003yly.4,p.D340N|NM_001385,p.D340N	retained_intron, protein_coding, processed_transcript	uc003yly.4	nonsynonymous SNV	exon6	c.G1018A	p.D340N	CTFNTCQKALGKDDFTKIPNGVNGV	CTFNTCQKALGKNDFTKIPNGVNGV	1.0	8.0	unscreened	-	3466_8:105440282-105440282 C>T_CTFNTCQKALGKNDFTKIPNGVNGV
19:52147098-52147098 C>T	0.0	3466	MELANOMA	-	-	-	-	SIGLEC14	uc002pxf.4,p.E316K|NM_001098612,p.E316K|ENST00000360844,p.E316K	retained_intron, protein_coding	uc002pxf.4	nonsynonymous SNV	exon5	c.G946A	p.E316K	LELPNIGAREGGEFTCRVQHPLGSQ	LELPNIGAREGGKFTCRVQHPLGSQ	2.0	7.0	unscreened	-	3466_19:52147098-52147098 C>T_LELPNIGAREGGKFTCRVQHPLGSQ
19:36027740-36027740 G>T	0.0	3466	MELANOMA	-	-	-	-	GAPDHS	NM_014364,p.E31D|ENST00000222286,p.E31D|uc002oaf.1,p.E31D	protein_coding, nonsense_mediated_decay	uc002oaf.1	nonsynonymous SNV	exon2	c.G93T	p.E31D	QPCPVTRAPPPPEPKAEVEPQPQPE	QPCPVTRAPPPPDPKAEVEPQPQPE	1.0	2.0	unscreened	-	3466_19:36027740-36027740 G>T_QPCPVTRAPPPPDPKAEVEPQPQPE
2:186659173-186659173 G>A	0.0	3466	MELANOMA	-	-	-	-	FSIP2	ENST00000343098,p.R2526K|ENST00000424728,p.R2437K|uc002upl.3,p.R2526K|NM_173651,p.R2526K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon16	c.G7577A	p.R2526K	SNEILLGHKEKERSTKKSLFTKYPL	SNEILLGHKEKEKSTKKSLFTKYPL	1.0	8.0	unscreened	Snp within 36 nucleotides, 2:186659184-186659184 C>A, residue 17 Q>K PR	3466_2:186659173-186659173 G>A_SNEILLGHKEKEKSTKKSLFTKYPL
5:13776753-13776753 C>T	0.0	3466	MELANOMA	-	-	-	-	DNAH5	ENST00000265104,p.M3056I|uc003jfd.2,p.M3056I|NM_001369,p.M3056I	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon55	c.G9168A	p.M3056I	EIDEINSDLASVMKKEFPRCLPTNE	EIDEINSDLASVIKKEFPRCLPTNE	1.0	2.0	unscreened	-	3466_5:13776753-13776753 C>T_EIDEINSDLASVIKKEFPRCLPTNE
4:77662462-77662462 G>A	0.0	3466	MELANOMA	-	-	-	-	SHROOM3	uc003hkg.3,p.G824R|uc011cbx.2,p.G1046R|NM_020859,p.G1046R|uc003hkf.1,p.G921R|ENST00000296043,p.G1046R|uc011cbz.1,p.G870R	retained_intron, protein_coding, processed_transcript	uc011cbz.1	nonsynonymous SNV	exon4	c.G2608A	p.G870R	EAEPAPLGPQRNGMRFPESSVADRR	EAEPAPLGPQRNRMRFPESSVADRR	1.0	3.0	unscreened	-	3466_4:77662462-77662462 G>A_EAEPAPLGPQRNRMRFPESSVADRR
19:56520207-56520207 G>A	0.0	3466	MELANOMA	-	-	-	-	NLRP5	uc002qmj.3,p.E166K|uc002qmi.3,p.E166K|ENST00000390649,p.E166K|ENST00000597673,p.E139K|NM_153447,p.E166K	protein_coding, nonsense_mediated_decay	uc002qmj.3	nonsynonymous SNV	exon3	c.G496A	p.E166K	PEATMTDQGPSKEKVPGISQAVQQD	PEATMTDQGPSKKKVPGISQAVQQD	1.0	2.0	unscreened	-	3466_19:56520207-56520207 G>A_PEATMTDQGPSKKKVPGISQAVQQD
3:77645811-77645811 C>T	0.0	3466	MELANOMA	-	-	-	2	ROBO2	uc011bgj.3,p.P329S|NM_001290040,p.P926S|uc021xat.1,p.P938S|ENST00000487694,p.P938S|ENST00000602589,p.P942S|uc003dpz.3,p.P926S|NM_002942,p.P922S|NM_001290039,p.P926S|NM_001290065,p.P329S|ENST00000332191,p.P922S|uc003dpy.4,p.P922S|uc003dqa.3,p.P49S|ENST00000461745,p.P922S|uc011bgk.2,p.P926S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xat.1	nonsynonymous SNV	exon19	c.C2812T	p.P938S	RPGLLNAGDPSYPWLADSWPATSLP	RPGLLNAGDPSYSWLADSWPATSLP	1.0	5.0	unscreened	-	3466_3:77645811-77645811 C>T_RPGLLNAGDPSYSWLADSWPATSLP
2:26684783-26684783 C>T	0.0	3466	MELANOMA	-	-	-	-	OTOF	NM_001287489,p.D1772N|ENST00000403946,p.D1772N|uc002rhi.3,p.D1082N|NM_194323,p.D1005N|ENST00000402415,p.D1082N|NM_004802,p.D1005N|uc002rhk.3,p.D1772N|ENST00000339598,p.D1005N|ENST00000338581,p.D1005N|NM_194322,p.D1082N|NM_194248,p.D1772N|ENST00000272371,p.D1772N|uc002rhh.3,p.D1005N|uc010yla.2,p.D502N|uc002rhj.3,p.D1005N	retained_intron, protein_coding	uc010yla.2	nonsynonymous SNV	exon16	c.G1504A	p.D502N	IFVRGWLKGQQEDKQDTDVHYHSLT	IFVRGWLKGQQENKQDTDVHYHSLT	1.0	6.0	unscreened	-	3466_2:26684783-26684783 C>T_IFVRGWLKGQQENKQDTDVHYHSLT
3:167245717-167245717 G>A	0.0	3466	MELANOMA	-	-	-	-	WDR49	ENST00000308378,p.S480F|NM_178824,p.S480F|uc003feu.1,p.S305F|ENST00000476376,p.S305F|uc003fev.1,p.S480F	protein_coding, nonsense_mediated_decay	uc003fev.1	nonsynonymous SNV	exon11	c.C1439T	p.S480F	IRSFQPHEDRISSLEMCEPGGQLLI	IRSFQPHEDRISFLEMCEPGGQLLI	1.0	4.0	unscreened	-	3466_3:167245717-167245717 G>A_IRSFQPHEDRISFLEMCEPGGQLLI
1:196300375-196300375 G>A	0.0	3466	MELANOMA	-	-	-	-	KCNT2	uc009wyu.3,p.P672S|NM_001287820,p.P622S|NM_001287819,p.P672S|uc001gtd.1,p.P672S|uc001gtf.1,p.P672S|ENST00000367433,p.P672S|uc001gte.1,p.P622S|ENST00000367431,p.P622S|ENST00000294725,p.P672S|ENST00000451324,p.P283S|uc001gth.1,p.P193S|NM_198503,p.P672S	protein_coding, processed_transcript	uc009wyu.3	nonsynonymous SNV	exon18	c.C2014T	p.P672S	EMSSNLEYAKGYPPYSPYIGSSPTF	EMSSNLEYAKGYSPYSPYIGSSPTF	2.0	2.0	unscreened	-	3466_1:196300375-196300375 G>A_EMSSNLEYAKGYSPYSPYIGSSPTF
5:442676-442676 C>T	0.0	3466	MELANOMA	-	-	-	-	C5orf55	NM_138464,p.G88S|ENST00000408966,p.G88S|uc010ita.3,p.G88S	protein_coding	uc010ita.3	nonsynonymous SNV	exon1	c.G262A	p.G88S	WHPRGNNASGMGGHRMFPGPLRGPA	WHPRGNNASGMGSHRMFPGPLRGPA	4.0	8.0	unscreened	-	3466_5:442676-442676 C>T_WHPRGNNASGMGSHRMFPGPLRGPA
10:84118498-84118498 C>G	0.0	3466	MELANOMA	-	-	ID=COSM94870;OCCURENCE=1(lung)	-	NRG3	NM_001165973,p.T55R|uc001kcp.2,p.T55R|ENST00000372142,p.T55R|uc021pvd.1,p.T55R|uc021pvg.1,p.T80R|uc021pve.1,p.T80R|ENST00000404576,p.T80R	protein_coding, nonsense_mediated_decay	uc021pvg.1	nonsynonymous SNV	exon3	c.C239G	p.T80R	VGLLLTNSYKFYTTTYSTERSEHFK	VGLLLTNSYKFYRTTYSTERSEHFK	1.0	3.0	unscreened	-	3466_10:84118498-84118498 C>G_VGLLLTNSYKFYRTTYSTERSEHFK
11:111404529-111404529 C>T	0.0	3466	MELANOMA	0	-	-	-	C11orf88	NM_001100388,p.S133L|uc009yyd.3,p.S160L|ENST00000375618,p.S133L|uc001plo.1,p.S160L|ENST00000529167,p.S160L|NM_207430,p.S160L|uc001pln.4,p.S133L|ENST00000332814,p.S160L	protein_coding, nonsense_mediated_decay	uc009yyd.3	nonsynonymous SNV	exon5	c.C479T	p.S160L	LQLLRKQREERISKELISLPYKPKA	LQLLRKQREERILKELISLPYKPKA	1.0	5.0	unscreened	-	3466_11:111404529-111404529 C>T_LQLLRKQREERILKELISLPYKPKA
4:126370645-126370645 G>A	0.0	3466	MELANOMA	-	-	-	1	FAT4	NM_024582,p.G2825E|uc003ifi.1,p.G303E|uc011cgp.2,p.G1123E|NM_001291303,p.G2827E|ENST00000394329,p.G2825E|NM_001291285,p.G2827E|uc003ifj.4,p.G2825E|ENST00000335110,p.G1123E	retained_intron, protein_coding	uc011cgp.2	nonsynonymous SNV	exon9	c.G3368A	p.G1123E	DASLPFTINPSTGDIVISRPLNRED	DASLPFTINPSTEDIVISRPLNRED	2.0	7.0	unscreened	-	3466_4:126370645-126370645 G>A_DASLPFTINPSTEDIVISRPLNRED
19:13414658-13414658 C>T	0.0	3466	MELANOMA	-	-	-	-	CACNA1A	ENST00000573710,p.G677E|uc010dzc.2,p.G202E|NM_001127222,p.G676E|ENST00000360228,p.G676E|NM_001127221,p.G677E|uc021upt.1,p.G677E|uc002mwy.3,p.G676E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021upt.1	nonsynonymous SNV	exon16	c.G2030A	p.G677E	LTGEDWNEVMYDGIKSQGGVQGGMV	LTGEDWNEVMYDEIKSQGGVQGGMV	2.0	7.0	unscreened	-	3466_19:13414658-13414658 C>T_LTGEDWNEVMYDEIKSQGGVQGGMV
1:36564059-36564059 G>A	0.0	3466	MELANOMA	-	-	-	-	COL8A2	ENST00000481785,p.P343L|ENST00000303143,p.P408L|ENST00000397799,p.P408L|uc001bzv.2,p.P408L|NM_001294347,p.P343L|uc001bzw.2,p.P343L|NM_005202,p.P408L	protein_coding	uc001bzw.2	nonsynonymous SNV	exon2	c.C1028T	p.P343L	QGPSGLAGKPGVPGERGLPGAHGPP	QGPSGLAGKPGVLGERGLPGAHGPP	3.0	3.0	unscreened	-	3466_1:36564059-36564059 G>A_QGPSGLAGKPGVLGERGLPGAHGPP
11:4869718-4869718 G>A	0.0	3466	MELANOMA	-	-	-	-	OR51S1	NM_001004758,p.R241C|uc010qyo.2,p.R241C|ENST00000322101,p.R241C	protein_coding	uc010qyo.2	nonsynonymous SNV	exon1	c.C721T	p.R241C	GKVLQGVESREDRWKAGQTCAAHLS	GKVLQGVESREDCWKAGQTCAAHLS	1.0	8.0	unscreened	-	3466_11:4869718-4869718 G>A_GKVLQGVESREDCWKAGQTCAAHLS
19:55420787-55420787 T>G	0.0	3466	MELANOMA	-	-	-	-	NCR1	ENST00000291890,p.V180G|NM_001242356,p.V85G|NM_001145458,p.V180G|uc010esj.2,p.V73G|uc002qif.2,p.V85G|NM_001145457,p.V180G|uc002qib.2,p.V180G|NM_004829,p.V180G|ENST00000598576,p.V168G|ENST00000594765,p.V180G|uc002qid.2,p.V85G|uc002qie.2,p.V180G|ENST00000447255,p.V180G|ENST00000357397,p.V73G|ENST00000350790,p.V85G|uc002qic.2,p.V180G|NM_001242357,p.V85G|ENST00000338835,p.V180G	retained_intron, protein_coding	uc010esj.2	nonsynonymous SNV	exon2	c.T218G	p.V73G	YGKVQAEFPLGPVTTAHRGTYRCFG	YGKVQAEFPLGPGTTAHRGTYRCFG	1.0	7.0	unscreened	-	3466_19:55420787-55420787 T>G_YGKVQAEFPLGPGTTAHRGTYRCFG
5:23522437-23522437 G>A	0.0	3466	MELANOMA	-	-	-	-	PRDM9	uc003jgo.3,p.R178K|NM_020227,p.R178K|ENST00000296682,p.R178K	protein_coding	uc003jgo.3	nonsynonymous SNV	exon7	c.G533A	p.R178K	RLKLELRKKETERKMYSLRERKGHA	RLKLELRKKETEKKMYSLRERKGHA	1.0	8.0	unscreened	-	3466_5:23522437-23522437 G>A_RLKLELRKKETEKKMYSLRERKGHA
14:21993353-21993353 G>A	0.0	3466	MELANOMA	-	-	-	-	SALL2	ENST00000327430,p.P170L|NM_005407,p.P170L|uc001wbe.3,p.P170L|ENST00000537235,p.P168L|uc010tly.2,p.P168L	protein_coding	uc010tly.2	nonsynonymous SNV	exon2	c.C503T	p.P168L	PAPPPPPPPPPPPGVGSGHLNIPLI	PAPPPPPPPPPPLGVGSGHLNIPLI	3.0	2.0	unscreened	-	3466_14:21993353-21993353 G>A_PAPPPPPPPPPPLGVGSGHLNIPLI
1:18807867-18807867 C>T	0.0	3466	MELANOMA	-	-	-	-	KLHDC7A	uc001bax.3,p.S131L|NM_152375,p.S131L|ENST00000400664,p.S131L	protein_coding	uc001bax.3	nonsynonymous SNV	exon1	c.C392T	p.S131L	RKGSGEERGGQGSDSEQVPPCCRSQ	RKGSGEERGGQGLDSEQVPPCCRSQ	1.0	2.0	unscreened	Snp within 36 nucleotides, 1:18807897-18807897 C>G, residue 23 P>R PR	3466_1:18807867-18807867 C>T_RKGSGEERGGQGLDSEQVPPCCRSQ
1:62740610-62740610 G>A	1.0	3466	MELANOMA	-	-	-	-	KANK4	uc001dah.4,p.P56S|ENST00000371153,p.P56S|NM_181712,p.P56S	protein_coding	uc001dah.4	nonsynonymous SNV	exon3	c.C166T	p.P56S	DDIEKGNTIKRIPIHRRAKQAKFST	DDIEKGNTIKRISIHRRAKQAKFST	2.0	2.0	unscreened	-	3466_1:62740610-62740610 G>A_DDIEKGNTIKRISIHRRAKQAKFST
2:185801882-185801882 G>A	0.0	3466	MELANOMA	-	-	-	-	ZNF804A	ENST00000302277,p.E587K|uc002uph.3,p.E587K|NM_194250,p.E587K	protein_coding	uc002uph.3	nonsynonymous SNV	exon4	c.G1759A	p.E587K	EKYNKIRLKETHEYWFHKSRRKKKR	EKYNKIRLKETHKYWFHKSRRKKKR	1.0	8.0	unscreened	-	3466_2:185801882-185801882 G>A_EKYNKIRLKETHKYWFHKSRRKKKR
16:87344766-87344766 G>A	0.0	3466	MELANOMA	-	-	-	-	C16orf95	NM_001195124,p.S156F|ENST00000567970,p.S156F|uc021tmh.1,p.S156F	protein_coding, processed_transcript, TEC	uc021tmh.1	nonsynonymous SNV	exon4	c.C467T	p.S156F	AVMPYWVPQVLRSQQQIVRRQQSLK	AVMPYWVPQVLRFQQQIVRRQQSLK	1.0	3.0	unscreened	-	3466_16:87344766-87344766 G>A_AVMPYWVPQVLRFQQQIVRRQQSLK
19:45575380-45575380 G>A	0.0	3466	MELANOMA	-	-	-	-	ZNF296	NM_145288,p.P303S|uc002pao.3,p.P303S|ENST00000303809,p.P303S	protein_coding	uc002pao.3	nonsynonymous SNV	exon3	c.C907T	p.P303S	MADTSQEQASAAPPEPAVHAAAPTS	MADTSQEQASAASPEPAVHAAAPTS	3.0	8.0	unscreened	-	3466_19:45575380-45575380 G>A_MADTSQEQASAASPEPAVHAAAPTS
2:17696791-17696791 C>T	0.0	3466	MELANOMA	-	-	-	-	RAD51AP2	ENST00000399080,p.M964I|uc010exn.1,p.M955I|uc002rcl.1,p.M964I|NM_001099218,p.M964I	protein_coding	uc010exn.1	nonsynonymous SNV	exon5	c.G2865A	p.M955I	STEALTIVKDFEMKRKFDLVLEELR	STEALTIVKDFEIKRKFDLVLEELR	1.0	3.0	unscreened	-	3466_2:17696791-17696791 C>T_STEALTIVKDFEIKRKFDLVLEELR
5:19747261-19747261 C>T	0.0	3466	MELANOMA	-	-	ID=COSM2150435,COSM2150434;OCCURENCE=2(central_nervous_system)	-	CDH18	uc003jgd.3,p.D105N|ENST00000274170,p.D105N|ENST00000382275,p.D105N|NM_001291956,p.D105N|ENST00000507958,p.D105N|ENST00000506372,p.D105N|ENST00000502796,p.D105N|uc021xwu.1,p.D105N|ENST00000511273,p.D105N|uc003jgc.3,p.D105N|NM_001291957,p.D105N|NM_001167667,p.D105N|ENST00000515257,p.D51N|uc011cnm.2,p.D105N|NM_004934,p.D105N	protein_coding, processed_transcript	uc021xwu.1	nonsynonymous SNV	exon4	c.G313A	p.D105N	TGEGAGTIFIIDDTTGDIHSTKSLD	TGEGAGTIFIIDNTTGDIHSTKSLD	1.0	6.0	unscreened	-	3466_5:19747261-19747261 C>T_TGEGAGTIFIIDNTTGDIHSTKSLD
10:123845757-123845757 G>A	0.0	3466	MELANOMA	-	-	-	-	TACC2	NM_001291877,p.A1248T|uc001lfv.3,p.A1248T|ENST00000369005,p.A1248T|NM_001291876,p.A1248T|uc009xzx.3,p.A1248T|uc010qtv.2,p.A1248T|NM_206862,p.A1248T|ENST00000515273,p.A1248T|ENST00000334433,p.A1248T|ENST00000515603,p.A1248T|ENST00000453444,p.A1248T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qtv.2	nonsynonymous SNV	exon4	c.G3742A	p.A1248T	PYLHVDSAAQRGAEDSGVKAVSSAD	PYLHVDSAAQRGTEDSGVKAVSSAD	8.0	6.0	-	-	3466_10:123845757-123845757 G>A_PYLHVDSAAQRGTEDSGVKAVSSAD
19:54561704-54561704 C>T	0.0	3466	MELANOMA	-	-	-	-	VSTM1	ENST00000425006,p.E71K|NM_198481,p.E71K|ENST00000338372,p.E71K|uc002qcx.4,p.E71K|NM_001288792,p.E71K|ENST00000447872,p.E71K|uc002qcw.4,p.E71K|ENST00000376626,p.E71K	protein_coding, nonsense_mediated_decay	uc002qcx.4	nonsynonymous SNV	exon3	c.G211A	p.E71K	VLRKVNDSGYKQEQSSAENEAEFPF	VLRKVNDSGYKQKQSSAENEAEFPF	1.0	7.0	unscreened	-	3466_19:54561704-54561704 C>T_VLRKVNDSGYKQKQSSAENEAEFPF
12:18849193-18849193 C>A	0.0	3466	MELANOMA	-	-	-	-	PLCZ1	NM_033123,p.E394D|ENST00000540421,p.E129D|ENST00000538330,p.E176D|uc021qvx.2,p.E394D|ENST00000266505,p.E394D|ENST00000541695,p.E257D|uc001rdw.5,p.E135D|ENST00000447925,p.E392D|ENST00000435379,p.E199D|ENST00000539875,p.E201D|uc001rdu.2,p.E176D|uc001rdv.5,p.E290D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qvx.2	nonsynonymous SNV	exon11	c.G1182T	p.E394D	TQARKLSKLRVHEFIFHTRKFITRI	TQARKLSKLRVHDFIFHTRKFITRI	1.0	6.0	unscreened	-	3466_12:18849193-18849193 C>A_TQARKLSKLRVHDFIFHTRKFITRI
16:57921872-57921872 C>T	0.0	3466	MELANOMA	-	-	-	-	CNGB1	ENST00000251102,p.G1117R|NM_001286130,p.G1111R|ENST00000564448,p.G1111R|NM_001297,p.G1117R|uc010cdh.2,p.G1111R|uc002emt.2,p.G1117R	retained_intron, protein_coding, processed_transcript	uc010cdh.2	nonsynonymous SNV	exon32	c.G3331A	p.G1111R	TPKLFNAALAMTGKMGGKGAKGGKL	TPKLFNAALAMTRKMGGKGAKGGKL	1.0	2.0	unscreened	-	3466_16:57921872-57921872 C>T_TPKLFNAALAMTRKMGGKGAKGGKL
11:12315468-12315468 G>A	0.0	3466	MELANOMA	-	-	-	-	MICALCL	ENST00000256186,p.E164K|NM_032867,p.E164K|uc001mkg.1,p.E164K	protein_coding, processed_transcript	uc001mkg.1	nonsynonymous SNV	exon3	c.G490A	p.E164K	EDREKGSTGARKEEEGGPVLVKEKL	EDREKGSTGARKKEEGGPVLVKEKL	2.0	2.0	unscreened	-	3466_11:12315468-12315468 G>A_EDREKGSTGARKKEEGGPVLVKEKL
17:36484597-36484597 C>T	0.0	3466	MELANOMA	-	-	-	-	GPR179	ENST00000342292,p.D1619N|NM_001004334,p.D1619N|uc002hpz.3,p.D1619N	retained_intron, protein_coding, processed_transcript	uc002hpz.3	nonsynonymous SNV	exon11	c.G4855A	p.D1619N	SAQVPRGGESQKDKEKMPGKSEIED	SAQVPRGGESQKNKEKMPGKSEIED	1.0	9.0	unscreened	-	3466_17:36484597-36484597 C>T_SAQVPRGGESQKNKEKMPGKSEIED
1:164790786-164790786 C>T	0.0	3466	MELANOMA	-	-	-	1	PBX1	ENST00000401534,p.S337L|uc001gcs.3,p.S337L|NM_001204961,p.S337L|ENST00000367897,p.S337L	retained_intron, protein_coding, processed_transcript	uc001gcs.3	nonsynonymous SNV	exon7	c.C1010T	p.S337L	SPSTPNSAGGYPSPCYQPDRRIQ	SPSTPNSAGGYPLPCYQPDRRIQ	3.0	2.0	unscreened	-	3466_1:164790786-164790786 C>T_SPSTPNSAGGYPLPCYQPDRRIQ
10:55755411-55755411 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1702446,COSM1702444,COSM1702443,COSM1702445;OCCURENCE=1(skin)	-	PCDH15	ENST00000395438,p.P956S|NM_001142766,p.P956S|uc010qib.1,p.P934S|uc010qhq.2,p.P961S|NM_001142768,p.P934S|ENST00000361849,p.P956S|uc010qhx.1,p.P885S|uc010qhy.1,p.P961S|NM_001142764,p.P956S|uc010qia.1,p.P934S|uc021pqz.1,p.P934S|uc021pqv.1,p.P956S|ENST00000320301,p.P956S|uc010qhv.1,p.P956S|ENST00000395430,p.P956S|uc021pqx.1,p.P956S|ENST00000437009,p.P885S|NM_001142763,p.P961S|ENST00000409834,p.P567S|ENST00000395433,p.P934S|uc021pqw.1,p.P968S|ENST00000414778,p.P961S|uc010qhw.1,p.P919S|uc010qht.2,p.P963S|uc001jju.1,p.P956S|ENST00000395445,p.P963S|ENST00000373965,p.P963S|NM_001142765,p.P885S|uc010qhz.1,p.P956S|uc010qhr.2,p.P956S|NM_001142773,p.P934S|NM_001142767,p.P919S|ENST00000395432,p.P919S|uc021pqy.1,p.P956S|NM_033056,p.P956S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqz.1	nonsynonymous SNV	exon19	c.C2800T	p.P934S	PITTVYAEDADPPGLPASRVRYRVD	PITTVYAEDADPSGLPASRVRYRVD	1.0	4.0	unscreened	-	3466_10:55755411-55755411 G>A_PITTVYAEDADPSGLPASRVRYRVD
19:50385607-50385607 C>T	1.0	3466	MELANOMA	-	-	-	-	TBC1D17	uc002pqo.3,p.P250S|NM_024682,p.P250S|uc010ybg.2,p.P217S|ENST00000535102,p.P217S|ENST00000594984,p.P29S|NM_001168222,p.P217S|ENST00000221543,p.P250S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ybg.2	nonsynonymous SNV	exon6	c.C649T	p.P217S	LQPQPEGAASDLPPPPDDEPEPGFE	LQPQPEGAASDLSPPPDDEPEPGFE	7.0	7.0	-	-	3466_19:50385607-50385607 C>T_LQPQPEGAASDLSPPPDDEPEPGFE
4:183710283-183710283 G>A	1.0	3466	MELANOMA	-	-	-	-	TENM3	NM_001080477,p.R1781Q|ENST00000406950,p.R1781Q|ENST00000511685,p.R1781Q|uc003ivd.1,p.R1781Q	retained_intron, protein_coding, processed_transcript	uc003ivd.1	nonsynonymous SNV	exon24	c.G5342A	p.R1781Q	VNGRNLLSVDFDRTTKTEKIYDDHR	VNGRNLLSVDFDQTTKTEKIYDDHR	8.0	5.0	-	-	3466_4:183710283-183710283 G>A_VNGRNLLSVDFDQTTKTEKIYDDHR
7:37901705-37901705 G>A	0.0	3466	MELANOMA	-	-	-	-	NME8	ENST00000455500,p.E61K|ENST00000440017,p.E116K|ENST00000444718,p.E61K|uc003tfn.3,p.E116K|ENST00000199447,p.E116K|NM_016616,p.E116K	retained_intron, protein_coding, nonsense_mediated_decay	uc003tfn.3	nonsynonymous SNV	exon7	c.G346A	p.E116K	PLVNKKVINLIDEERKIAAGEMARP	PLVNKKVINLIDKERKIAAGEMARP	1.0	8.0	unscreened	-	3466_7:37901705-37901705 G>A_PLVNKKVINLIDKERKIAAGEMARP
20:10030374-10030374 G>A	1.0	3466	MELANOMA	-	-	-	-	ANKEF1	ENST00000378392,p.R386Q|NM_022096,p.R386Q|uc010gbz.3,p.R197Q|uc002wno.3,p.R386Q|NM_198798,p.R386Q|ENST00000378380,p.R386Q|uc002wnp.3,p.R386Q	protein_coding, processed_transcript	uc010gbz.3	nonsynonymous SNV	exon7	c.G590A	p.R197Q	QLAAIAHLHEKTRGGGVNINEFFKG	QLAAIAHLHEKTQGGGVNINEFFKG	3.0	4.0	unscreened	-	3466_20:10030374-10030374 G>A_QLAAIAHLHEKTQGGGVNINEFFKG
12:6839937-6839937 C>T	1.0	3466	MELANOMA	-	-	-	-	COPS7A	ENST00000229251,p.P247S|uc001qqn.4,p.P247S|uc001qqi.3,p.P247S|ENST00000543155,p.P247S|NM_001164094,p.P247S|NM_016319,p.P247S|NM_001164093,p.P247S|uc001qqh.3,p.P247S|ENST00000539735,p.P247S|ENST00000534947,p.P247S|ENST00000534877,p.P247S|uc001qqj.3,p.P247S|NM_001164095,p.P247S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001qqn.4	nonsynonymous SNV	exon6	c.C739T	p.P247S	PEQHLTELREPAPGTNQRQPSKKAS	PEQHLTELREPASGTNQRQPSKKAS	9.0	4.0	-	-	3466_12:6839937-6839937 C>T_PEQHLTELREPASGTNQRQPSKKAS
1:63010671-63010671 G>A	0.0	3466	MELANOMA	-	-	-	-	DOCK7	NM_001271999,p.P936S|uc001dam.3,p.P116S|uc001daq.4,p.P936S|ENST00000251157,p.P936S	protein_coding, processed_transcript	uc001daq.4	nonsynonymous SNV	exon23	c.C2806T	p.P936S	LDRSNSWVNTGGPKAAPWGSNPSPS	LDRSNSWVNTGGSKAAPWGSNPSPS	9.0	8.0	-	-	3466_1:63010671-63010671 G>A_LDRSNSWVNTGGSKAAPWGSNPSPS
16:3119309-3119309 G>A	1.0	3466	MELANOMA	-	-	-	-	IL32	NM_001012631,p.E174K|NM_001012636,p.E165K|NM_001012635,p.E154K|ENST00000444393,p.E174K|ENST00000396890,p.E220K|uc002ctp.3,p.E154K|NM_001012634,p.E154K|ENST00000008180,p.E154K|uc002ctu.3,p.E165K|ENST00000548652,p.E165K|ENST00000530538,p.E174K|NM_004221,p.E174K|ENST00000552356,p.E154K|ENST00000533097,p.E174K|ENST00000548246,p.E134K|ENST00000528163,p.E174K|uc010btb.3,p.E164K|uc002cto.3,p.E220K|ENST00000440815,p.E174K|ENST00000531965,p.E164K|uc010uwr.2,p.E134K|uc002ctq.3,p.E220K|NM_001012632,p.E174K|ENST00000526464,p.E174K|ENST00000382213,p.E165K|ENST00000551513,p.E211K|ENST00000529699,p.E154K|NM_001012718,p.E174K|uc002ctl.3,p.E174K|uc002ctm.3,p.E174K|uc002ctr.3,p.E154K|ENST00000525643,p.E174K|ENST00000552664,p.E174K|uc010uwp.2,p.E154K|ENST00000548476,p.E220K|uc002ctn.3,p.E174K|ENST00000530890,p.E154K|ENST00000325568,p.E174K|uc002ctt.3,p.E174K|ENST00000552936,p.E198K|ENST00000529550,p.E174K|ENST00000534507,p.E220K	retained_intron, protein_coding	uc010uwr.2	nonsynonymous SNV	exon4	c.G400A	p.E134K	SFQSYGAPRGDKEELTPQKCSEPQS	SFQSYGAPRGDKKELTPQKCSEPQS	10.0	2.0	-	-	3466_16:3119309-3119309 G>A_SFQSYGAPRGDKKELTPQKCSEPQS
18:28968426-28968426 C>T	0.0	3466	MELANOMA	-	-	-	-	DSG4	NM_177986,p.R105C|NM_001134453,p.R105C|ENST00000308128,p.R105C|uc002kwq.2,p.R105C|uc002kwr.2,p.R105C|ENST00000359747,p.R105C	protein_coding	uc002kwr.2	nonsynonymous SNV	exon4	c.C313T	p.R105C	DRPPYGVFTINPRTGEINITSVVDR	DRPPYGVFTINPCTGEINITSVVDR	1.0	6.0	unscreened	-	3466_18:28968426-28968426 C>T_DRPPYGVFTINPCTGEINITSVVDR
2:29225437-29225437 C>T	0.0	3466	MELANOMA	-	-	-	-	FAM179A	NM_199280,p.P155S|uc010ymm.2,p.P155S|uc010ezl.3,p.P155S|ENST00000379558,p.P155S|ENST00000403861,p.P155S	retained_intron, protein_coding, processed_transcript	uc010ymm.2	nonsynonymous SNV	exon5	c.C463T	p.P155S	ASLDPGGGPQGVPLHSTIPRATSQR	ASLDPGGGPQGVSLHSTIPRATSQR	2.0	5.0	unscreened	-	3466_2:29225437-29225437 C>T_ASLDPGGGPQGVSLHSTIPRATSQR
1:153177469-153177469 C>A, 1:153177470-153177470 C>T	0.0	3466	MELANOMA	-	-	ID=COSM312480;OCCURENCE=1(lung)	-	LELP1	ENST00000368747,p.P96L|uc021ozv.1,p.P96L|uc001fbl.4,p.P96L|NM_001010857,p.P96L	protein_coding	uc021ozv.1	nonsynonymous SNV	exon1	c.C287T	p.P96L	SSCPHACPPPCPPPE	SSCPHACPPPCPLPE	1.0	2.0	unscreened	Dinucleotide variant, 1:153177469-153177469 C>A, residue 13 P>L PR	3466_1:153177469-153177469 C>A, 1:153177470-153177470 C>T_SSCPHACPPPCPLPE
2:168106486-168106486 C>T	0.0	3466	MELANOMA	-	-	-	-	XIRP2	uc010fpq.3,p.L2640F|uc002udx.3,p.L2862F|NM_152381,p.L2862F|ENST00000295237,p.L2862F|NM_001199144,p.L2640F|ENST00000409195,p.L2862F|ENST00000409273,p.L2640F|uc002udy.3,p.L2687F	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.C7918T	p.L2640F	PKVVKQKVIDAHLDSQTQNFQQTQI	PKVVKQKVIDAHFDSQTQNFQQTQI	3.0	8.0	unscreened	-	3466_2:168106486-168106486 C>T_PKVVKQKVIDAHFDSQTQNFQQTQI
18:21529837-21529837 C>T	0.0	3466	MELANOMA	-	-	-	-	LAMA3	uc002kuq.3,p.P3154S|NM_000227,p.P1545S|ENST00000587184,p.P1489S|uc002kut.4,p.P1489S|NM_198129,p.P3154S|uc002kus.4,p.P1545S|ENST00000399516,p.P3098S|ENST00000269217,p.P1545S|uc002kur.3,p.P3098S|NM_001127718,p.P1489S|ENST00000313654,p.P3154S|NM_001127717,p.P3098S	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc002kut.4	nonsynonymous SNV	exon33	c.C4465T	p.P1489S	SSSFGVSSCLGGPLEKGIYFSEEGG	SSSFGVSSCLGGSLEKGIYFSEEGG	2.0	6.0	unscreened	-	3466_18:21529837-21529837 C>T_SSSFGVSSCLGGSLEKGIYFSEEGG
19:9054252-9054252 G>A	0.0	3466	MELANOMA	-	-	ID=COSM3404848,COSM3404849;OCCURENCE=1(central_nervous_system)	2	MUC16	ENST00000397910,p.S10457L|NM_024690,p.S10457L|uc002mkp.3,p.S10457L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon4	c.C31370T	p.S10457L	TIRPVKGPQTSTSPASPKGLHTGGT	TIRPVKGPQTSTLPASPKGLHTGGT	1.0	8.0	unscreened	-	3466_19:9054252-9054252 G>A_TIRPVKGPQTSTLPASPKGLHTGGT
2:227942694-227942694 G>A	0.0	3466	MELANOMA	-	-	-	-	COL4A4	uc021vxs.1,p.P635S|ENST00000396625,p.P635S|uc021vxr.1,p.P635S|ENST00000329662,p.P635S|NM_000092,p.P635S	protein_coding	uc021vxs.1	nonsynonymous SNV	exon25	c.C1903T	p.P635S	KAGPVGPPGLGFPGPPGERGHPGVP	KAGPVGPPGLGFSGPPGERGHPGVP	1.0	2.0	unscreened	-	3466_2:227942694-227942694 G>A_KAGPVGPPGLGFSGPPGERGHPGVP
19:38897583-38897583 C>T	1.0	3466	MELANOMA	-	-	-	-	FAM98C	uc010xtz.1,p.P128L|ENST00000588262,p.P128L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xtz.1	nonsynonymous SNV	exon4	c.C383T	p.P128L	LRPRRGHEGSADPNSRGSDPRIGHL	LRPRRGHEGSADLNSRGSDPRIGHL	5.0	6.0	unscreened	-	3466_19:38897583-38897583 C>T_LRPRRGHEGSADLNSRGSDPRIGHL
9:125901876-125901876 C>T	1.0	3466	MELANOMA	-	-	-	-	STRBP	NM_001171137,p.E463K|NM_018387,p.E477K|uc004bnv.3,p.E477K|ENST00000360998,p.E463K|ENST00000348403,p.E477K|uc004bnu.3,p.E463K|uc004bnt.3,p.E295K|ENST00000447404,p.E477K|uc004bns.3,p.E477K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004bnv.3	nonsynonymous SNV	exon13	c.G1429A	p.E477K	SSDEKSDNESKNETVSSNSSNNTGN	SSDEKSDNESKNKTVSSNSSNNTGN	3.0	9.0	unscreened	-	3466_9:125901876-125901876 C>T_SSDEKSDNESKNKTVSSNSSNNTGN
3:24188225-24188225 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1685920;OCCURENCE=2(skin)	-	THRB	uc010hfe.3,p.R158Q|uc003ccx.4,p.R158Q|NM_000461,p.R158Q|ENST00000396671,p.R158Q|ENST00000416420,p.R158Q|ENST00000280696,p.R173Q|uc003ccz.4,p.R158Q|NM_001252634,p.R158Q|NM_001128176,p.R158Q|NM_001128177,p.R158Q|uc003ccy.4,p.R158Q|ENST00000356447,p.R158Q	protein_coding	uc010hfe.3	nonsynonymous SNV	exon7	c.G473A	p.R158Q	KYEGKCVIDKVTRNQCQECRFKKCI	KYEGKCVIDKVTQNQCQECRFKKCI	2.0	3.0	unscreened	-	3466_3:24188225-24188225 C>T_KYEGKCVIDKVTQNQCQECRFKKCI
10:55582031-55582031 G>A	0.0	3466	MELANOMA	-	-	-	-	PCDH15	ENST00000395430,p.P1816S|NM_001142763,p.P1826S|uc010qhy.1,p.P1826S|ENST00000395433,p.P1796S|uc010qhx.1,p.P1750S|uc010qia.1,p.P1799S|uc010qhv.1,p.P1816S|uc001jju.1,p.P1819S|NM_001142767,p.P1779S|uc021pqz.1,p.P1796S|NM_033056,p.P1819S|NM_001142764,p.P1821S|uc010qib.1,p.P1796S|ENST00000361849,p.P1821S|ENST00000320301,p.P1819S|ENST00000437009,p.P1750S|NM_001142773,p.P1796S|ENST00000395432,p.P1779S|uc010qhw.1,p.P1779S|NM_001142768,p.P1799S|uc010qhz.1,p.P1821S|NM_001142765,p.P1750S|NM_001142766,p.P1816S|uc021pqy.1,p.P1821S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqz.1	nonsynonymous SNV	exon31	c.C5386T	p.P1796S	TPPLLPPFPTPLPPPPPSIPCPPPP	TPPLLPPFPTPLSPPPPSIPCPPPP	1.0	8.0	unscreened	-	3466_10:55582031-55582031 G>A_TPPLLPPFPTPLSPPPPSIPCPPPP
2:179742773-179742773 G>A	0.0	3466	MELANOMA	-	-	-	-	CCDC141	ENST00000443758,p.A606V|ENST00000409284,p.A606V|ENST00000295723,p.A31V|uc002unf.1,p.A85V|ENST00000446116,p.A541V|ENST00000420890,p.A606V|uc002ung.3,p.A606V|NM_173648,p.A606V|ENST00000343876,p.A50V|uc002une.2,p.A606V	protein_coding, processed_transcript	uc002ung.3	nonsynonymous SNV	exon12	c.C1817T	p.A606V	QDDAKAKHCSDSAEKQWQLFLKKSF	QDDAKAKHCSDSVEKQWQLFLKKSF	3.0	7.0	unscreened	-	3466_2:179742773-179742773 G>A_QDDAKAKHCSDSVEKQWQLFLKKSF
3:49662556-49662556 C>T	0.0	3466	MELANOMA	-	-	-	-	BSN	uc003cxe.4,p.P125S|ENST00000296452,p.P125S|NM_003458,p.P125S	retained_intron, protein_coding	uc003cxe.4	nonsynonymous SNV	exon2	c.C373T	p.P125S	RAQGPAGQEADGPRRTLQVDSRTQR	RAQGPAGQEADGSRRTLQVDSRTQR	1.0	6.0	unscreened	-	3466_3:49662556-49662556 C>T_RAQGPAGQEADGSRRTLQVDSRTQR
14:38679109-38679109 C>A	0.0	3466	MELANOMA	-	-	-	-	SSTR1	ENST00000267377,p.T172N|uc021rsi.1,p.T172N|NM_001049,p.T172N|uc001wul.1,p.T172N	protein_coding	uc021rsi.1	nonsynonymous SNV	exon1	c.C515A	p.T172N	VHPIKAARYRRPTVAKVVNLGVWVL	VHPIKAARYRRPNVAKVVNLGVWVL	1.0	3.0	unscreened	-	3466_14:38679109-38679109 C>A_VHPIKAARYRRPNVAKVVNLGVWVL
3:108112955-108112955 G>A	0.0	3466	MELANOMA	-	-	-	-	MYH15	uc003dxa.1,p.R1748W|NM_014981,p.R1748W|ENST00000273353,p.R1748W	retained_intron, protein_coding, processed_transcript	uc003dxa.1	nonsynonymous SNV	exon37	c.C5242T	p.R1748W	LSQKKKLEADVARMQKEAEEVVQEC	LSQKKKLEADVAWMQKEAEEVVQEC	1.0	5.0	unscreened	-	3466_3:108112955-108112955 G>A_LSQKKKLEADVAWMQKEAEEVVQEC
10:87373381-87373381 C>T	0.0	3466	MELANOMA	-	-	-	-	GRID1	uc010qmf.1,p.G366E|ENST00000536331,p.G366E|uc001kdl.1,p.G795E|NM_017551,p.G795E|ENST00000327946,p.G795E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qmf.1	nonsynonymous SNV	exon8	c.G1097A	p.G366E	LFSQRILELQDTGDLDVLKQKWWPH	LFSQRILELQDTEDLDVLKQKWWPH	3.0	6.0	unscreened	-	3466_10:87373381-87373381 C>T_LFSQRILELQDTEDLDVLKQKWWPH
14:20711857-20711857 C>T	0.0	3466	MELANOMA	-	-	ID=COSM954192;OCCURENCE=1(endometrium)	-	OR11H4	uc010tld.2,p.R303C|ENST00000315409,p.R303C|NM_001004479,p.R303C	protein_coding	uc010tld.2	nonsynonymous SNV	exon1	c.C907T	p.R303C	TTPLFNPLIYTLRNKDMKLALRNVL	TTPLFNPLIYTLCNKDMKLALRNVL	1.0	4.0	unscreened	-	3466_14:20711857-20711857 C>T_TTPLFNPLIYTLCNKDMKLALRNVL
2:179658259-179658259 C>T	0.0	3466	MELANOMA	-	-	-	-	TTN	ENST00000589042,p.E470K|uc021vsz.2,p.E470K|ENST00000360870,p.E470K|uc021vta.2,p.E470K|NM_133379,p.E470K|uc021vsy.2,p.E470K|NM_001256850,p.E470K|uc010frg.1,p.E144K|uc002unb.3,p.E470K|uc031rqc.1,p.E470K|ENST00000342175,p.E470K|NM_133432,p.E470K|ENST00000436599,p.E66K|ENST00000591111,p.E470K|uc021vtb.2,p.E470K|NM_003319,p.E470K|ENST00000342992,p.E470K|uc031rqd.1,p.E470K|NM_133437,p.E470K|NM_133378,p.E470K|NM_001267550,p.E470K|ENST00000359218,p.E470K|ENST00000460472,p.E470K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon9	c.G1408A	p.E470K	VHIQPAQEQVRKEAEKTAVTKVVVA	VHIQPAQEQVRKKAEKTAVTKVVVA	5.0	3.0	unscreened	-	3466_2:179658259-179658259 C>T_VHIQPAQEQVRKKAEKTAVTKVVVA
17:44249319-44249319 C>T	1.0	3466	MELANOMA	-	-	ID=COSM1212131;OCCURENCE=1(large_intestine)	-	KANSL1	ENST00000575318,p.R64Q|ENST00000574655,p.R64Q|ENST00000572904,p.R64Q|ENST00000571698,p.R64Q|ENST00000574590,p.R64Q|NM_001193466,p.R64Q|uc002ikd.3,p.R64Q|ENST00000432791,p.R64Q|NM_015443,p.R64Q|uc002ikc.3,p.R64Q|ENST00000262419,p.R64Q|NM_001193465,p.R64Q|uc010dav.3,p.R64Q	retained_intron, protein_coding, processed_transcript	uc010dav.3	nonsynonymous SNV	exon3	c.G191A	p.R64Q	KAIAAEDPSLDFRNNPTKEDLGKLQ	KAIAAEDPSLDFQNNPTKEDLGKLQ	10.0	6.0	unscreened	-	3466_17:44249319-44249319 C>T_KAIAAEDPSLDFQNNPTKEDLGKLQ
2:196822037-196822037 C>T	0.0	3466	MELANOMA	-	-	-	-	DNAH7	uc002utj.4,p.R1009Q|ENST00000312428,p.R1009Q|NM_018897,p.R1009Q	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon19	c.G3026A	p.R1009Q	PDIMSQMPEEGRRFTAVDKTWRDIM	PDIMSQMPEEGRQFTAVDKTWRDIM	1.0	7.0	unscreened	-	3466_2:196822037-196822037 C>T_PDIMSQMPEEGRQFTAVDKTWRDIM
12:16342733-16342733 G>A	0.0	3466	MELANOMA	-	-	-	-	SLC15A5	ENST00000344941,p.H537Y|NM_001170798,p.H537Y|uc021qvs.1,p.H537Y	protein_coding	uc021qvs.1	nonsynonymous SNV	exon9	c.C1609T	p.H537Y	FCSVSQRYCNLNHFNAQNIRGSNLE	FCSVSQRYCNLNYFNAQNIRGSNLE	1.0	6.0	unscreened	-	3466_12:16342733-16342733 G>A_FCSVSQRYCNLNYFNAQNIRGSNLE
20:60904023-60904023 C>T	0.0	3466	MELANOMA	-	-	-	-	LAMA5	NM_005560,p.E1442K|uc002ycq.3,p.E1442K|uc021wfw.1,p.E1442K|ENST00000252999,p.E1442K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wfw.1	nonsynonymous SNV	exon34	c.G4324A	p.E1442K	FYNNGARPCGCHEVGATGPTCEPFG	FYNNGARPCGCHKVGATGPTCEPFG	4.0	3.0	unscreened	-	3466_20:60904023-60904023 C>T_FYNNGARPCGCHKVGATGPTCEPFG
2:228681093-228681093 C>T	0.0	3466	MELANOMA	-	-	-	-	CCL20	ENST00000409189,p.L87F|NM_004591,p.L88F|NM_001130046,p.L87F|uc002vpm.2,p.L87F|ENST00000358813,p.L88F|uc002vpl.2,p.L88F	retained_intron, protein_coding, processed_transcript	uc002vpm.2	nonsynonymous SNV	exon3	c.C259T	p.L87F	NPKQTWVKYIVRLLSKKVKNM	NPKQTWVKYIVRFLSKKVKNM	1.0	3.0	unscreened	-	3466_2:228681093-228681093 C>T_NPKQTWVKYIVRFLSKKVKNM
11:58980257-58980257 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1354979;OCCURENCE=1(large_intestine)	-	MPEG1	NM_001039396,p.E28K|uc001nnu.4,p.E28K|ENST00000361050,p.E28K	protein_coding	uc001nnu.4	nonsynonymous SNV	exon1	c.G82A	p.E28K	WAKSGKPSGEMDEVGVQKCKNALKL	WAKSGKPSGEMDKVGVQKCKNALKL	9.0	5.0	unscreened	-	3466_11:58980257-58980257 C>T_WAKSGKPSGEMDKVGVQKCKNALKL
11:26702759-26702759 C>T	0.0	3466	MELANOMA	-	-	-	-	SLC5A12	uc001mra.2,p.G440R|ENST00000396005,p.G440R|NM_178498,p.G440R	retained_intron, protein_coding, nonsense_mediated_decay	uc001mra.2	nonsynonymous SNV	exon12	c.G1318A	p.G440R	IVFPFVNWKGALGGLLTGITLSFWV	IVFPFVNWKGALRGLLTGITLSFWV	1.0	6.0	unscreened	-	3466_11:26702759-26702759 C>T_IVFPFVNWKGALRGLLTGITLSFWV
16:19567005-19567005 G>A	0.0	3466	MELANOMA	-	-	-	-	C16orf62	uc002dgo.2,p.G74E|uc002dgn.3,p.G74E|NM_020314,p.G74E|ENST00000438132,p.G74E|NM_001300743,p.G74E|uc002dgm.2,p.G74E|ENST00000539322,p.G74E|ENST00000538853,p.G74E|ENST00000542263,p.G74E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dgo.2	nonsynonymous SNV	exon1	c.G221A	p.G74E	RPRGAGSGGVRMGSRADGPRTSGHV	RPRGAGSGGVRMESRADGPRTSGHV	8.0	3.0	unscreened	-	3466_16:19567005-19567005 G>A_RPRGAGSGGVRMESRADGPRTSGHV
4:155298406-155298406 C>T	0.0	3466	MELANOMA	-	-	-	-	DCHS2	uc003inw.2,p.G142E|ENST00000357232,p.G142E|NM_017639,p.G142E	protein_coding, processed_transcript	uc003inw.2	nonsynonymous SNV	exon3	c.G425A	p.G142E	PATYDLLVEAKDGDEQRMTHLALVK	PATYDLLVEAKDEDEQRMTHLALVK	1.0	2.0	unscreened	-	3466_4:155298406-155298406 C>T_PATYDLLVEAKDEDEQRMTHLALVK
4:177142631-177142631 G>A	0.0	3466	MELANOMA	-	-	-	-	ASB5	uc003iuq.2,p.P169S|ENST00000296525,p.P169S|uc003iup.2,p.P116S|ENST00000512254,p.P116S|NM_080874,p.P169S	protein_coding, processed_transcript	uc003iuq.2	nonsynonymous SNV	exon4	c.C505T	p.P169S	EYGAKAQLESCLPSPTHEAASKGHH	EYGAKAQLESCLSSPTHEAASKGHH	4.0	4.0	unscreened	-	3466_4:177142631-177142631 G>A_EYGAKAQLESCLSSPTHEAASKGHH
19:57328892-57328892 T>A, 19:57328894-57328894 C>T	0.0	3466	MELANOMA	-	-	-	-	PEG3	ENST00000599534,p.E306D|ENST00000593695,p.E180D|uc010etr.2,p.E306D|ENST00000326441,p.E306D|NM_001146186,p.E306D|NM_001146184,p.E306D|ENST00000423103,p.E306D|uc002qnw.2,p.E182D|uc002qnt.2,p.E277D|ENST00000599577,p.E306D|uc002qnv.2,p.E306D|uc002qnu.2,p.E306D|ENST00000598410,p.E182D|NM_001146185,p.E180D|NM_006210,p.E306D|uc002qnx.2,p.E180D|NM_001146187,p.E182D|ENST00000600833,p.E151D	protein_coding, processed_transcript	uc010etr.2	nonsynonymous SNV	exon9	c.A918T	p.E306D	EAKKSTHRRGICEDESSHGVIMEKF	EAKKSTHRRGICNDESSHGVIMEKF	4.0	7.0	unscreened	Additional variant within 36 nucleotides, 19:57328894-57328894 C>T, residue 13 E>N PR	3466_19:57328892-57328892 T>A, 19:57328894-57328894 C>T_EAKKSTHRRGICNDESSHGVIMEKF
11:69625228-69625228 C>T	0.0	3466	MELANOMA	-	-	-	-	FGF3	ENST00000334134,p.E189K|NM_005247,p.E189K|uc001oph.3,p.E189K	protein_coding	uc001oph.3	nonsynonymous SNV	exon3	c.G565A	p.E189K	LFLPRVLDHRDHEMVRQLQSGLPRP	LFLPRVLDHRDHKMVRQLQSGLPRP	1.0	5.0	unscreened	-	3466_11:69625228-69625228 C>T_LFLPRVLDHRDHKMVRQLQSGLPRP
10:61833102-61833102 C>T	0.0	3466	MELANOMA	-	-	-	-	ANK3	NM_020987,p.E2513K|ENST00000280772,p.E2513K|uc001jky.3,p.E2513K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jky.3	nonsynonymous SNV	exon37	c.G7537A	p.E2513K	RSREKIATAPKKEILSKIYKDVSEN	RSREKIATAPKKKILSKIYKDVSEN	5.0	4.0	unscreened	-	3466_10:61833102-61833102 C>T_RSREKIATAPKKKILSKIYKDVSEN
20:9561486-9561486 G>A	0.0	3466	MELANOMA	-	-	ID=COSM229360;OCCURENCE=1(skin)	-	PAK7	uc010gby.1,p.S99F|NM_177990,p.S99F|NM_020341,p.S99F|uc002wnj.2,p.S99F|uc002wnk.2,p.S99F|ENST00000353224,p.S99F|ENST00000378429,p.S99F|uc002wnl.2,p.S99F|ENST00000378423,p.S99F	protein_coding	uc010gby.1	nonsynonymous SNV	exon4	c.C296T	p.S99F	EDFDNISVTRSNSLRKESPPTPDQG	EDFDNISVTRSNFLRKESPPTPDQG	1.0	5.0	unscreened	-	3466_20:9561486-9561486 G>A_EDFDNISVTRSNFLRKESPPTPDQG
2:220161751-220161751 C>T	0.0	3466	MELANOMA	-	-	ID=COSM142786;OCCURENCE=1(skin)	-	PTPRN	uc002vla.3,p.G702E|NM_002846,p.G731E|uc010zlc.2,p.G641E|ENST00000295718,p.G731E|ENST00000423636,p.G641E|ENST00000409251,p.G702E|NM_001199763,p.G702E|uc002vkz.3,p.G731E|NM_001199764,p.G641E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zlc.2	nonsynonymous SNV	exon15	c.G1922A	p.G641E	YQAEPNTCATAQGEGNIKKNRHPDF	YQAEPNTCATAQEEGNIKKNRHPDF	1.0	8.0	unscreened	-	3466_2:220161751-220161751 C>T_YQAEPNTCATAQEEGNIKKNRHPDF
11:55890126-55890126 C>T	0.0	3466	MELANOMA	-	-	-	-	OR8H3	NM_001005201,p.S93F|uc001nii.1,p.S93F|ENST00000313472,p.S93F	protein_coding	uc001nii.1	nonsynonymous SNV	exon1	c.C278T	p.S93F	KTLANLLTSNYISFTGCFAQMFCFV	KTLANLLTSNYIFFTGCFAQMFCFV	1.0	6.0	unscreened	-	3466_11:55890126-55890126 C>T_KTLANLLTSNYIFFTGCFAQMFCFV
19:18899559-18899559 C>T	0.0	3466	MELANOMA	-	-	-	-	COMP	NM_000095,p.G202S|ENST00000542601,p.G169S|ENST00000222271,p.G202S|uc002nkd.3,p.G169S|uc002nke.3,p.G202S|uc010xqj.2,p.G149S|ENST00000425807,p.G149S	retained_intron, protein_coding	uc010xqj.2	nonsynonymous SNV	exon6	c.G445A	p.G149S	NCVPNSVCINTRGSFQCGPCQPGFV	NCVPNSVCINTRSSFQCGPCQPGFV	1.0	2.0	unscreened	-	3466_19:18899559-18899559 C>T_NCVPNSVCINTRSSFQCGPCQPGFV
16:77398221-77398221 G>A	0.0	3466	MELANOMA	-	-	-	-	ADAMTS18	NM_199355,p.S279F|uc002ffc.4,p.S279F|ENST00000282849,p.S279F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ffc.4	nonsynonymous SNV	exon5	c.C836T	p.S279F	EDTYLRFDEYGSSGRPRRSAGKSQK	EDTYLRFDEYGSFGRPRRSAGKSQK	1.0	8.0	unscreened	-	3466_16:77398221-77398221 G>A_EDTYLRFDEYGSFGRPRRSAGKSQK
2:202357799-202357799 C>T	0.0	3466	MELANOMA	-	-	-	-	ALS2CR11	NM_001168221,p.G1089R|uc002uyf.3,p.G1089R|ENST00000439140,p.G1089R	protein_coding, processed_transcript	uc002uyf.3	nonsynonymous SNV	exon15	c.G3265A	p.G1089R	NVFFKYNHSERRGQPEKELERLIQP	NVFFKYNHSERRRQPEKELERLIQP	3.0	2.0	unscreened	-	3466_2:202357799-202357799 C>T_NVFFKYNHSERRRQPEKELERLIQP
10:118383542-118383542 C>T	0.0	3466	MELANOMA	-	-	-	-	PNLIPRP2	ENST00000537242,p.P46S	retained_intron, protein_coding, processed_transcript, polymorphic_pseudogene	ENST00000537242	nonsynonymous SNV	exon4	c.C136T	p.P46S	WAGTLQRPVKLLPWSPEDIDTRFLL	WAGTLQRPVKLLSWSPEDIDTRFLL	1.0	6.0	unscreened	-	3466_10:118383542-118383542 C>T_WAGTLQRPVKLLSWSPEDIDTRFLL
10:127461302-127461302 G>A	0.0	3466	MELANOMA	-	-	-	-	MMP21	NM_147191,p.P239S|ENST00000368808,p.P239S|uc001liu.3,p.P239S	protein_coding	uc001liu.3	nonsynonymous SNV	exon3	c.C715T	p.P239S	KLGFGRGRHLGCPRAFDGSGQEFAH	KLGFGRGRHLGCSRAFDGSGQEFAH	1.0	4.0	unscreened	-	3466_10:127461302-127461302 G>A_KLGFGRGRHLGCSRAFDGSGQEFAH
13:53421818-53421818 C>T	0.0	3466	MELANOMA	-	-	-	-	PCDH8	uc001vhj.3,p.E252K|NM_032949,p.E252K|ENST00000377942,p.E252K|ENST00000338862,p.E252K|uc001vhi.3,p.E252K|NM_002590,p.E252K	protein_coding	uc001vhj.3	nonsynonymous SNV	exon1	c.G754A	p.E252K	DHSPAFPQGAVAEVELAEDAPVGSL	DHSPAFPQGAVAKVELAEDAPVGSL	1.0	4.0	unscreened	-	3466_13:53421818-53421818 C>T_DHSPAFPQGAVAKVELAEDAPVGSL
10:25888112-25888112 G>A	0.0	3466	MELANOMA	-	-	-	-	GPR158	NM_020752,p.R1186K|uc001isj.3,p.R1186K|uc001isk.3,p.R561K|ENST00000376351,p.R1186K	protein_coding, processed_transcript	uc001isk.3	nonsynonymous SNV	exon3	c.G1682A	p.R561K	WEFETPAQPNAGRSVALPASSALSA	WEFETPAQPNAGKSVALPASSALSA	1.0	7.0	unscreened	-	3466_10:25888112-25888112 G>A_WEFETPAQPNAGKSVALPASSALSA
2:70188586-70188586 G>A	0.0	3466	MELANOMA	-	-	-	-	ASPRV1	NM_152792,p.P79S|uc002sfz.4,p.P79S|ENST00000320256,p.P79S	protein_coding	uc002sfz.4	nonsynonymous SNV	exon1	c.C235T	p.P79S	GFLFLAWVAAEVPEESSRMAGSGAR	GFLFLAWVAAEVSEESSRMAGSGAR	1.0	5.0	unscreened	-	3466_2:70188586-70188586 G>A_GFLFLAWVAAEVSEESSRMAGSGAR
8:76463644-76463644 G>A	1.0	3466	MELANOMA	-	-	-	-	HNF4G	ENST00000396423,p.R125K|NM_004133,p.R125K|ENST00000354370,p.R88K|uc003yar.3,p.R125K|uc003yaq.3,p.R88K	protein_coding, processed_transcript	uc003yar.3	nonsynonymous SNV	exon4	c.G374A	p.R125K	GMKKEAVQNERDRISTRRSTFDGSN	GMKKEAVQNERDKISTRRSTFDGSN	2.0	8.0	unscreened	-	3466_8:76463644-76463644 G>A_GMKKEAVQNERDKISTRRSTFDGSN
19:36342248-36342248 C>T	0.0	3466	MELANOMA	-	-	-	-	NPHS1	uc002oby.3,p.D105N|ENST00000378910,p.D105N|NM_004646,p.D105N|ENST00000353632,p.D105N	retained_intron, protein_coding	uc002oby.3	nonsynonymous SNV	exon3	c.G313A	p.D105N	EFHLHIEACDLSDDAEYECQVGRSE	EFHLHIEACDLSNDAEYECQVGRSE	1.0	3.0	unscreened	-	3466_19:36342248-36342248 C>T_EFHLHIEACDLSNDAEYECQVGRSE
5:41161821-41161821 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1695722;OCCURENCE=1(skin)	-	C6	ENST00000263413,p.E478K|uc003jml.2,p.E478K|NM_001115131,p.E478K|NM_000065,p.E478K|uc003jmk.3,p.E478K|ENST00000337836,p.E478K	retained_intron, protein_coding, processed_transcript	uc003jml.2	nonsynonymous SNV	exon10	c.G1432A	p.E478K	EKTFSEWLESVKENPAVIDFELAPI	EKTFSEWLESVKKNPAVIDFELAPI	1.0	7.0	unscreened	-	3466_5:41161821-41161821 C>T_EKTFSEWLESVKKNPAVIDFELAPI
1:233490752-233490752 G>A	0.0	3466	MELANOMA	-	-	ID=COSM107155;OCCURENCE=1(skin)	-	KIAA1804	uc001hvt.4,p.E436K|ENST00000366623,p.E436K|ENST00000366624,p.E436K|uc001hvs.1,p.E436K|NM_032435,p.E436K	protein_coding	uc001hvt.4	nonsynonymous SNV	exon4	c.G1306A	p.E436K	EIQQMFDELRTKEKELRSREEELTR	EIQQMFDELRTKKKELRSREEELTR	2.0	8.0	unscreened	-	3466_1:233490752-233490752 G>A_EIQQMFDELRTKKKELRSREEELTR
22:40356063-40356063 T>A	0.0	3466	MELANOMA	-	-	-	-	GRAP2	uc011aom.2,p.F33I	retained_intron, protein_coding, processed_transcript	uc011aom.2	nonsynonymous SNV	exon2	c.T97A	p.F33I	RHKLNPFSSKRWFHEGLSRHQAENL	RHKLNPFSSKRWIHEGLSRHQAENL	4.0	3.0	unscreened	-	3466_22:40356063-40356063 T>A_RHKLNPFSSKRWIHEGLSRHQAENL
3:108634977-108634977 C>T	0.0	3466	MELANOMA	-	-	-	-	GUCA1C	ENST00000393963,p.D147N|uc003dxk.2,p.D147N|ENST00000471108,p.D147N	protein_coding	uc003dxk.2	nonsynonymous SNV	exon3	c.G439A	p.D147N	INLVFHKIDINNDGNGATLYWITFP	INLVFHKIDINNNGNGATLYWITFP	1.0	6.0	unscreened	-	3466_3:108634977-108634977 C>T_INLVFHKIDINNNGNGATLYWITFP
8:24261565-24261565 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1098320;OCCURENCE=1(endometrium)	-	ADAMDEC1	NM_001145272,p.G378E|ENST00000522298,p.G378E|uc003xdz.2,p.G457E|uc010lub.2,p.G378E|uc011lab.1,p.G378E|NM_001145271,p.G378E|ENST00000538205,p.G378E|ENST00000256412,p.G457E|NM_014479,p.G457E	protein_coding, processed_transcript, nonsense_mediated_decay	uc011lab.1	nonsynonymous SNV	exon12	c.G1133A	p.G378E	LCCEALTCKLKPGTDCGGDAPNHTT	LCCEALTCKLKPETDCGGDAPNHTT	8.0	8.0	unscreened	-	3466_8:24261565-24261565 G>A_LCCEALTCKLKPETDCGGDAPNHTT
4:81967371-81967371 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1694598;OCCURENCE=1(skin)	-	BMP3	NM_001201,p.P266S|ENST00000282701,p.P266S|uc003hmg.4,p.P266S	protein_coding	uc003hmg.4	nonsynonymous SNV	exon2	c.C796T	p.P266S	SVVSSLQGHRNFPTGTVPKWDSHIR	SVVSSLQGHRNFSTGTVPKWDSHIR	1.0	5.0	unscreened	-	3466_4:81967371-81967371 C>T_SVVSSLQGHRNFSTGTVPKWDSHIR
16:31235540-31235540 C>T	0.0	3466	MELANOMA	-	-	-	-	TRIM72	ENST00000322122,p.P300S|NM_001008274,p.P300S|uc002ebn.2,p.P300S	protein_coding	uc002ebn.2	nonsynonymous SNV	exon7	c.C898T	p.P300S	LEELTFDPSSAHPSLVVSSSGRRVE	LEELTFDPSSAHSSLVVSSSGRRVE	1.0	6.0	unscreened	-	3466_16:31235540-31235540 C>T_LEELTFDPSSAHSSLVVSSSGRRVE
1:100757049-100757049 C>T	1.0	3466	MELANOMA	-	-	-	-	RTCA	NM_001130841,p.P377S|uc001dtd.3,p.P377S|ENST00000370128,p.P364S|NM_003729,p.P364S|ENST00000260563,p.P377S|uc001dtc.3,p.P364S	protein_coding, processed_transcript	uc001dtd.3	nonsynonymous SNV	exon12	c.C1129T	p.P377S	YIIECQGIGMTNPNL	YIIECQGIGMTNSNL	8.0	6.0	-	-	3466_1:100757049-100757049 C>T_YIIECQGIGMTNSNL
2:99438499-99438499 C>T	0.0	3466	MELANOMA	-	-	-	-	KIAA1211L	NM_207362,p.G746E|uc002szf.1,p.G746E|ENST00000397899,p.G746E	protein_coding, processed_transcript	uc002szf.1	nonsynonymous SNV	exon7	c.G2237A	p.G746E	PALRGTRAPSDQGKGKARPPEPLSS	PALRGTRAPSDQEKGKARPPEPLSS	1.0	8.0	unscreened	-	3466_2:99438499-99438499 C>T_PALRGTRAPSDQEKGKARPPEPLSS
10:19620359-19620359 C>T	0.0	3466	MELANOMA	-	-	-	-	MALRD1	ENST00000377266,p.S559F|ENST00000454679,p.S546F|NM_001142308,p.S1250F	protein_coding, processed_transcript	NM_001142308	nonsynonymous SNV	exon24	c.C3749T	p.S1250F	ISYIGDVAVDDISFQDCSPLLSPER	ISYIGDVAVDDIFFQDCSPLLSPER	1.0	7.0	unscreened	-	3466_10:19620359-19620359 C>T_ISYIGDVAVDDIFFQDCSPLLSPER
16:58314544-58314544 C>T	0.0	3466	MELANOMA	-	-	-	-	PRSS54	ENST00000219301,p.E258K|NM_001080492,p.E258K|uc002enf.3,p.E258K|uc002eng.3,p.E258K|ENST00000569079,p.E159K|ENST00000543437,p.E159K|uc010vie.2,p.E159K|ENST00000567164,p.E258K	protein_coding, processed_transcript	uc010vie.2	nonsynonymous SNV	exon6	c.G475A	p.E159K	ETCPGLFLYTKVEDYSKWITSKAER	ETCPGLFLYTKVKDYSKWITSKAER	2.0	8.0	unscreened	-	3466_16:58314544-58314544 C>T_ETCPGLFLYTKVKDYSKWITSKAER
1:196197368-196197368 C>T	0.0	3466	MELANOMA	-	-	-	-	KCNT2	NM_001287820,p.E1065K|uc001gte.1,p.E1065K|uc001gtd.1,p.E1132K|NM_198503,p.E1132K|uc001gtf.1,p.E1108K|ENST00000294725,p.E1132K|ENST00000367431,p.E1066K|NM_001287819,p.E1108K|ENST00000367433,p.E1108K	protein_coding, processed_transcript	uc001gtf.1	nonsynonymous SNV	exon27	c.G3322A	p.E1108K	SICNVTGQDSREETQL	SICNVTGQDSREKTQL	2.0	2.0	unscreened	-	3466_1:196197368-196197368 C>T_SICNVTGQDSREKTQL
2:168102859-168102859 G>A	0.0	3466	MELANOMA	-	-	-	-	XIRP2	NM_001199144,p.E1431K|uc010fpq.3,p.E1431K|NM_152381,p.E1653K|ENST00000409195,p.E1653K|ENST00000295237,p.E1653K|uc002udy.3,p.E1478K|ENST00000409273,p.E1431K|uc002udx.3,p.E1653K	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.G4291A	p.E1431K	LNRSTEFHAEKEEIVKGDVQQAIKN	LNRSTEFHAEKEKIVKGDVQQAIKN	3.0	7.0	unscreened	-	3466_2:168102859-168102859 G>A_LNRSTEFHAEKEKIVKGDVQQAIKN
2:103001445-103001445 G>A	1.0	3466	MELANOMA	-	-	-	-	IL18R1	uc010ywc.2,p.E266K|uc010ywd.2,p.E111K|ENST00000409599,p.E266K|NM_001282399,p.E111K|uc010fiy.3,p.E266K|NM_003855,p.E266K|uc002tbw.4,p.E266K|ENST00000233957,p.E266K|ENST00000410040,p.E266K	retained_intron, protein_coding	uc010ywd.2	nonsynonymous SNV	exon6	c.G331A	p.E111K	ENGSDPNIHEEKEMRIMTPEGKWHA	ENGSDPNIHEEKKMRIMTPEGKWHA	3.0	7.0	unscreened	-	3466_2:103001445-103001445 G>A_ENGSDPNIHEEKKMRIMTPEGKWHA
11:62931998-62931998 C>T	0.0	3466	MELANOMA	-	-	-	-	SLC22A25	uc001nwr.1,p.R465K|ENST00000306494,p.R465K|NM_199352,p.R465K	protein_coding, nonsense_mediated_decay	uc001nwr.1	nonsynonymous SNV	exon8	c.G1394A	p.R465K	TAQENELIPSIIRGRATGITGNFAN	TAQENELIPSIIKGRATGITGNFAN	1.0	3.0	unscreened	-	3466_11:62931998-62931998 C>T_TAQENELIPSIIKGRATGITGNFAN
1:158325195-158325195 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1721662;OCCURENCE=2(NS)	-	CD1E	ENST00000368160,p.S154F|NM_001042584,p.S154F|ENST00000434258,p.S152F|NM_001042585,p.S154F|uc001fsf.3,p.S154F|NM_001185114,p.S55F|uc001fsd.3,p.S154F|uc001fry.3,p.S154F|NM_001042583,p.S154F|uc001fse.3,p.S154F|ENST00000368167,p.S154F|ENST00000368163,p.S154F|ENST00000368161,p.S154F|uc009wsv.3,p.S55F|uc010pie.2,p.S55F|NM_030893,p.S154F|ENST00000444681,p.S55F|uc010pid.2,p.S152F	protein_coding, processed_transcript	uc010pie.2	nonsynonymous SNV	exon2	c.C164T	p.S55F	YQGSDFLSFQGISWEPSPGAGIRAQ	YQGSDFLSFQGIFWEPSPGAGIRAQ	2.0	6.0	unscreened	-	3466_1:158325195-158325195 C>T_YQGSDFLSFQGIFWEPSPGAGIRAQ
15:40030393-40030393 C>T	0.0	3466	MELANOMA	-	-	-	-	FSIP1	uc001zki.3,p.E264K|NM_152597,p.E264K|ENST00000350221,p.E264K	protein_coding, processed_transcript	uc001zki.3	nonsynonymous SNV	exon8	c.G790A	p.E264K	QDFIKRNIELAKESRNPVVMVDREK	QDFIKRNIELAKKSRNPVVMVDREK	1.0	7.0	unscreened	-	3466_15:40030393-40030393 C>T_QDFIKRNIELAKKSRNPVVMVDREK
1:11105524-11105524 C>T	0.0	3466	MELANOMA	-	-	-	-	MASP2	NM_139208,p.G162D|ENST00000400897,p.G162D|ENST00000400898,p.G162D|uc001arx.2,p.G162D|uc001aru.3,p.G162D|uc001arv.3,p.G162D|NM_006610,p.G162D	retained_intron, protein_coding	uc001arx.2	nonsynonymous SNV	exon4	c.G485A	p.G162D	PTCDHHCHNHLGGFYCSCRAGYVLH	PTCDHHCHNHLGDFYCSCRAGYVLH	1.0	4.0	unscreened	-	3466_1:11105524-11105524 C>T_PTCDHHCHNHLGDFYCSCRAGYVLH
12:4873175-4873175 A>C	0.0	3466	MELANOMA	-	-	-	-	GALNT8	uc001qne.1,p.T519P|NM_017417,p.T519P|ENST00000252318,p.T519P	protein_coding, processed_transcript	uc001qne.1	nonsynonymous SNV	exon9	c.A1555C	p.T519P	NVCLDQGPVPGNTPIMYYCHEFSSQ	NVCLDQGPVPGNPPIMYYCHEFSSQ	1.0	4.0	unscreened	-	3466_12:4873175-4873175 A>C_NVCLDQGPVPGNPPIMYYCHEFSSQ
16:3140647-3140647 C>T	0.0	3466	MELANOMA	-	-	-	-	ZSCAN10	NM_032805,p.G208E|ENST00000538082,p.G126E|uc002ctv.1,p.G208E|ENST00000252463,p.G208E|NM_001282416,p.G126E|ENST00000576985,p.G208E|uc002ctw.1,p.G126E|uc002ctx.1,p.G136E	retained_intron, protein_coding, processed_transcript	uc002ctx.1	nonsynonymous SNV	exon4	c.G407A	p.G136E	VPENKAWPAHPLGFGSRTPDKEEFK	VPENKAWPAHPLEFGSRTPDKEEFK	1.0	7.0	unscreened	-	3466_16:3140647-3140647 C>T_VPENKAWPAHPLEFGSRTPDKEEFK
19:22496907-22496907 C>T	0.0	3466	MELANOMA	-	-	-	-	ZNF729	NM_001242680,p.H230Y|uc021urs.1,p.H230Y|ENST00000601693,p.H230Y|ENST00000357491,p.H230Y	protein_coding	uc021urs.1	nonsynonymous SNV	exon4	c.C688T	p.H230Y	KSFSTLTKHKIIHTEDKPYKYKKCG	KSFSTLTKHKIIYTEDKPYKYKKCG	1.0	8.0	-	-	3466_19:22496907-22496907 C>T_KSFSTLTKHKIIYTEDKPYKYKKCG
15:90903413-90903413 T>C	0.0	3466	MELANOMA	-	-	-	-	ZNF774	NM_001004309,p.L117S|uc002bpk.4,p.L117S|ENST00000354377,p.L117S	protein_coding, processed_transcript, nonsense_mediated_decay	uc002bpk.4	nonsynonymous SNV	exon4	c.T350C	p.L117S	LSWGGNWEQGLELEGQHGTLPGEGQ	LSWGGNWEQGLESEGQHGTLPGEGQ	3.0	3.0	unscreened	-	3466_15:90903413-90903413 T>C_LSWGGNWEQGLESEGQHGTLPGEGQ
4:183268052-183268052 G>A	1.0	3466	MELANOMA	-	-	-	-	TENM3	uc010irv.1,p.E161K	retained_intron, protein_coding, processed_transcript	uc010irv.1	nonsynonymous SNV	exon3	c.G481A	p.E161K	SRSNSALTLTDTEHENKSDSENA	SRSNSALTLTDTKHENKSDSENA	8.0	7.0	unscreened	-	3466_4:183268052-183268052 G>A_SRSNSALTLTDTKHENKSDSENA
4:183268052-183268052 G>A	1.0	3466	MELANOMA	-	-	-	-	TENM3	ENST00000406950,p.E161K|uc003ivd.1,p.E161K|ENST00000511685,p.E161K|NM_001080477,p.E161K	retained_intron, protein_coding, processed_transcript	uc003ivd.1	nonsynonymous SNV	exon2	c.G481A	p.E161K	SRSNSALTLTDTEHENKSDSENEQP	SRSNSALTLTDTKHENKSDSENEQP	8.0	7.0	unscreened	-	3466_4:183268052-183268052 G>A_SRSNSALTLTDTKHENKSDSENEQP
3:9786772-9786772 C>T	1.0	3466	MELANOMA	-	-	-	-	BRPF1	ENST00000457855,p.P995S|ENST00000424362,p.P994S|NM_001003694,p.P1001S|uc003bsf.3,p.P1001S|ENST00000383829,p.P1001S|NM_004634,p.P995S|ENST00000433861,p.P900S|uc003bsg.3,p.P994S|uc011ati.2,p.P900S|uc003bse.3,p.P995S|ENST00000302054,p.P995S	retained_intron, protein_coding, processed_transcript	uc011ati.2	nonsynonymous SNV	exon9	c.C2698T	p.P900S	KSFLVYRNDCSLPRSSSDSESSSSS	KSFLVYRNDCSLSRSSSDSESSSSS	6.0	4.0	-	-	3466_3:9786772-9786772 C>T_KSFLVYRNDCSLSRSSSDSESSSSS
11:17582327-17582327 C>T	0.0	3466	MELANOMA	-	-	-	-	OTOG	ENST00000399397,p.P411S|NM_001292063,p.P472S|ENST00000399391,p.P484S|NM_001277269,p.P484S|uc031pzc.1,p.P484S	retained_intron, protein_coding, processed_transcript	uc031pzc.1	nonsynonymous SNV	exon12	c.C1450T	p.P484S	AECPCEFHGTLYPPGSVVKEDCNTC	AECPCEFHGTLYSPGSVVKEDCNTC	1.0	4.0	unscreened	-	3466_11:17582327-17582327 C>T_AECPCEFHGTLYSPGSVVKEDCNTC
1:91809000-91809000 A>T	0.0	3466	MELANOMA	-	-	-	-	HFM1	ENST00000370425,p.N774K|ENST00000370424,p.N453K|NM_001017975,p.N774K|uc010osu.2,p.N453K|uc010osv.1,p.N458K|uc001doa.4,p.N774K	retained_intron, protein_coding, processed_transcript	uc010osv.1	nonsynonymous SNV	exon14	c.T1374A	p.N458K	SSLDLIKMDEGVNFKPTEAGRLMAW	SSLDLIKMDEGVKFKPTEAGRLMAW	1.0	6.0	unscreened	-	3466_1:91809000-91809000 A>T_SSLDLIKMDEGVKFKPTEAGRLMAW
5:26903879-26903879 C>T	0.0	3466	MELANOMA	-	-	-	-	CDH9	NM_016279,p.R289K|ENST00000231021,p.R289K|uc010iug.3,p.R289K|uc003jgs.1,p.R289K	retained_intron, protein_coding	uc010iug.3	nonsynonymous SNV	exon6	c.G866A	p.R289K	SPESVPLGTHLGRIKANDPDVGENA	SPESVPLGTHLGKIKANDPDVGENA	1.0	3.0	unscreened	-	3466_5:26903879-26903879 C>T_SPESVPLGTHLGKIKANDPDVGENA
15:72432427-72432427 C>T	0.0	3466	MELANOMA	-	-	-	-	SENP8	NM_001172109,p.P155S|uc021spr.1,p.P155S|NM_001172111,p.P155S|ENST00000544411,p.P155S|ENST00000542035,p.P155S|NM_145204,p.P155S|ENST00000340912,p.P155S|uc021sps.1,p.P155S|uc021spu.1,p.P155S|uc002atp.3,p.P155S|uc021spt.1,p.P155S|NM_001172110,p.P155S|ENST00000544171,p.P155S|NM_001166340,p.P155S|uc021spq.1,p.P155S	protein_coding	uc021spu.1	nonsynonymous SNV	exon1	c.C463T	p.P155S	KGDKLAFVEEKAPAQQNSYDCGMYV	KGDKLAFVEEKASAQQNSYDCGMYV	3.0	8.0	unscreened	-	3466_15:72432427-72432427 C>T_KGDKLAFVEEKASAQQNSYDCGMYV
10:81702573-81702573 C>A	0.0	3466	MELANOMA	-	-	-	-	SFTPD	ENST00000444384,p.G101W|NM_003019,p.G88W|uc001kbh.3,p.G88W|ENST00000372292,p.G88W	protein_coding	uc001kbh.3	nonsynonymous SNV	exon3	c.G262T	p.G88W	GMPGQAGPVGPKGDNGSVGEPGPKG	GMPGQAGPVGPKWDNGSVGEPGPKG	1.0	5.0	unscreened	-	3466_10:81702573-81702573 C>A_GMPGQAGPVGPKWDNGSVGEPGPKG
2:150064839-150064839 C>T	0.0	3466	MELANOMA	-	-	-	-	LYPD6B	ENST00000409876,p.P57S|uc002tww.1,p.P43S|ENST00000409642,p.P81S|ENST00000409029,p.P57S|ENST00000280115,p.P81S|NM_177964,p.P81S|uc002twx.1,p.P43S|uc002twv.1,p.P81S	protein_coding, processed_transcript, nonsense_mediated_decay	uc002twx.1	nonsynonymous SNV	exon5	c.C127T	p.P43S	YNVRPPLDPTPFPNSFKCFTCENAG	YNVRPPLDPTPFSNSFKCFTCENAG	1.0	8.0	unscreened	-	3466_2:150064839-150064839 C>T_YNVRPPLDPTPFSNSFKCFTCENAG
19:57174976-57174976 G>A	0.0	3466	MELANOMA	-	-	-	-	ZNF835	ENST00000537055,p.P531S|uc010ygn.2,p.P531S|uc031rne.1,p.P531S|NM_001005850,p.P531S	protein_coding	uc031rne.1	nonsynonymous SNV	exon1	c.C1591T	p.P531S	GETCQQGCPGRNPRGPAED	GETCQQGCPGRNSRGPAED	1.0	2.0	unscreened	-	3466_19:57174976-57174976 G>A_GETCQQGCPGRNSRGPAED
18:7023304-7023304 T>C	1.0	3466	MELANOMA	-	-	-	-	LAMA1	uc002knm.3,p.N854D|NM_005559,p.N854D|ENST00000389658,p.N854D|uc010wzj.2,p.N330D	retained_intron, protein_coding	uc010wzj.2	nonsynonymous SNV	exon18	c.A988G	p.N330D	PGESCVPCDCSGNVDPSEAGHCDSV	PGESCVPCDCSGDVDPSEAGHCDSV	3.0	8.0	unscreened	-	3466_18:7023304-7023304 T>C_PGESCVPCDCSGDVDPSEAGHCDSV
11:60197220-60197220 T>C	0.0	3466	MELANOMA	-	-	-	-	MS4A5	ENST00000300190,p.S25P|ENST00000533885,p.S25P|uc001npo.3,p.S25P|ENST00000531403,p.S25P|NM_023945,p.S25P	protein_coding, processed_transcript, nonsense_mediated_decay	uc001npo.3	nonsynonymous SNV	exon1	c.T73C	p.S25P	VFPPEITASEYESTELSATTFSTQS	VFPPEITASEYEPTELSATTFSTQS	1.0	6.0	unscreened	-	3466_11:60197220-60197220 T>C_VFPPEITASEYEPTELSATTFSTQS
12:11546821-11546821 C>T	0.0	3466	MELANOMA	-	-	-	-	PRB2	ENST00000389362,p.G64E|uc010shk.1,p.G64E|NM_006248,p.G64E	protein_coding, processed_transcript	uc010shk.1	nonsynonymous SNV	exon3	c.G191A	p.G64E	SPPGKPQGPPPQGGNQPQGPPPPPG	SPPGKPQGPPPQEGNQPQGPPPPPG	1.0	7.0	unscreened	-	3466_12:11546821-11546821 C>T_SPPGKPQGPPPQEGNQPQGPPPPPG
5:11397211-11397211 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1695388;OCCURENCE=1(skin)	2	CTNND2	ENST00000513598,p.E91K|ENST00000359640,p.E182K|NM_001288715,p.E91K|uc003jfa.1,p.E182K|uc010itt.2,p.E91K|ENST00000504499,p.E182K|ENST00000304623,p.E182K|ENST00000511377,p.E91K|NM_001332,p.E182K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010itt.2	nonsynonymous SNV	exon5	c.G271A	p.E91K	ASYHSNQTLALGETTPSQLPARGTQ	ASYHSNQTLALGKTTPSQLPARGTQ	1.0	8.0	unscreened	-	3466_5:11397211-11397211 C>T_ASYHSNQTLALGKTTPSQLPARGTQ
4:115750986-115750986 C>T	0.0	3466	MELANOMA	-	-	-	-	NDST4	NM_022569,p.G820E|ENST00000264363,p.G820E|uc003ibu.3,p.G820E	retained_intron, protein_coding, nonsense_mediated_decay	uc003ibu.3	nonsynonymous SNV	exon13	c.G2459A	p.G820E	CQLLEGGKTKCLGKSKGRKYPPMDP	CQLLEGGKTKCLEKSKGRKYPPMDP	1.0	3.0	unscreened	-	3466_4:115750986-115750986 C>T_CQLLEGGKTKCLEKSKGRKYPPMDP
21:39087396-39087396 C>T	0.0	3466	MELANOMA	0.0005	-	-	-	KCNJ6	NM_002240,p.E22K|uc011aej.2,p.E22K|ENST00000400482,p.E22K|uc002ywo.3,p.E22K|ENST00000288309,p.E22K	protein_coding	uc011aej.2	nonsynonymous SNV	exon3	c.G64A	p.E22K	NVLEGDSMDQDVESPVAIHQPKLPK	NVLEGDSMDQDVKSPVAIHQPKLPK	1.0	8.0	unscreened	-	3466_21:39087396-39087396 C>T_NVLEGDSMDQDVKSPVAIHQPKLPK
19:3813841-3813841 C>T	0.0	3466	MELANOMA	-	-	-	-	ZFR2	ENST00000262961,p.R740Q|NM_015174,p.R740Q|uc002lyw.2,p.R740Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lyw.2	nonsynonymous SNV	exon14	c.G2219A	p.R740Q	MQVTISVTSPLMREDPSTDPGVEEP	MQVTISVTSPLMQEDPSTDPGVEEP	1.0	8.0	unscreened	-	3466_19:3813841-3813841 C>T_MQVTISVTSPLMQEDPSTDPGVEEP
11:3682641-3682641 C>T	0.0	3466	MELANOMA	-	-	-	-	ART1	uc001lye.1,p.S295L|NM_004314,p.S295L|ENST00000250693,p.S295L	protein_coding, processed_transcript	uc001lye.1	nonsynonymous SNV	exon4	c.C884T	p.S295L	KKCKSGPCHLDNSAMGQSPLSAVWS	KKCKSGPCHLDNLAMGQSPLSAVWS	1.0	3.0	unscreened	-	3466_11:3682641-3682641 C>T_KKCKSGPCHLDNLAMGQSPLSAVWS
10:84118498-84118498 C>G	0.0	3466	MELANOMA	-	-	ID=COSM94870;OCCURENCE=1(lung)	-	NRG3	uc010qlz.1,p.T276R|uc021pvc.1,p.T276R|NM_001165972,p.T276R|NM_001010848,p.T276R|ENST00000404547,p.T276R|ENST00000372141,p.T276R|uc001kco.2,p.T276R	protein_coding, nonsense_mediated_decay	uc021pvc.1	nonsynonymous SNV	exon2	c.C827G	p.T276R	TTPETSTSPKFHTTTYSTERSEHFK	TTPETSTSPKFHRTTYSTERSEHFK	1.0	3.0	unscreened	-	3466_10:84118498-84118498 C>G_TTPETSTSPKFHRTTYSTERSEHFK
3:57430525-57430525 C>T	0.0	3466	MELANOMA	-	-	-	-	DNAH12	uc003dit.2,p.D1459N|ENST00000351747,p.D1459N|ENST00000495027,p.D1482N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003dit.2	nonsynonymous SNV	exon29	c.G4375A	p.D1459N	ENEDILLLRSIKDVNEPKFLSHDIP	ENEDILLLRSIKNVNEPKFLSHDIP	1.0	5.0	unscreened	-	3466_3:57430525-57430525 C>T_ENEDILLLRSIKNVNEPKFLSHDIP
12:6575444-6575444 G>A	1.0	3466	MELANOMA	-	-	-	-	VAMP1	uc001qoj.3,p.P26S|NM_014231,p.P26S|NM_001297438,p.P26S|uc001qok.3,p.P26S|NM_016830,p.P26S|ENST00000396308,p.P26S|ENST00000400911,p.P26S|uc001qol.3,p.P26S|ENST00000535180,p.P26S|ENST00000361716,p.P26S|NM_199245,p.P26S	protein_coding, processed_transcript	uc001qol.3	nonsynonymous SNV	exon2	c.C76T	p.P26S	GTAPGGGPPGPPPNMTSNRRLQQTQ	GTAPGGGPPGPPSNMTSNRRLQQTQ	6.0	6.0	-	-	3466_12:6575444-6575444 G>A_GTAPGGGPPGPPSNMTSNRRLQQTQ
2:69049816-69049816 G>T	0.0	3466	MELANOMA	-	-	-	-	ARHGAP25	NM_001007231,p.E515D|uc010yql.2,p.E475D|NM_014882,p.E507D|ENST00000479844,p.E208D|ENST00000409202,p.E515D|ENST00000295381,p.E514D|ENST00000409030,p.E507D|uc010fdg.3,p.E515D|uc002sex.3,p.E508D|NM_001166276,p.E508D|ENST00000409220,p.E508D|uc002sew.3,p.E507D|NM_001166277,p.E475D|ENST00000467265,p.E475D	protein_coding, processed_transcript, nonsense_mediated_decay	uc010yql.2	nonsynonymous SNV	exon9	c.G1425T	p.E475D	YDNVPSLPGSPGEEASALSSQACDS	YDNVPSLPGSPGDEASALSSQACDS	5.0	4.0	unscreened	-	3466_2:69049816-69049816 G>T_YDNVPSLPGSPGDEASALSSQACDS
2:29295825-29295825 G>A	0.0	3466	MELANOMA	-	-	-	-	C2orf71	NM_001029883,p.L435F|uc002rmt.2,p.L435F|ENST00000331664,p.L435F	protein_coding	uc002rmt.2	nonsynonymous SNV	exon1	c.C1303T	p.L435F	QPRAQDEARSPCLSSTSPENITSPP	QPRAQDEARSPCFSSTSPENITSPP	1.0	7.0	unscreened	-	3466_2:29295825-29295825 G>A_QPRAQDEARSPCFSSTSPENITSPP
1:161029405-161029405 G>A	0.0	3466	MELANOMA	-	-	-	-	ARHGAP30	ENST00000490279,p.R67W	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000490279	nonsynonymous SNV	exon2	c.C199T	p.R67W	RLSGVSSNIQKLRRL	RLSGVSSNIQKLWRL	5.0	7.0	unscreened	-	3466_1:161029405-161029405 G>A_RLSGVSSNIQKLWRL
19:11216102-11216102 G>A	1.0	3466	MELANOMA	-	-	-	-	LDLR	uc010xlk.2,p.E174K|NM_000527,p.E174K|ENST00000557933,p.E174K|ENST00000535915,p.E133K|NM_001195798,p.E174K|uc021upc.1,p.E53K|uc010xll.2,p.E133K|NM_001195799,p.E133K|uc002mqk.4,p.E174K|uc010xlm.2,p.E27K|ENST00000558518,p.E174K|ENST00000558013,p.E174K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021upc.1	nonsynonymous SNV	exon3	c.G157A	p.E53K	PQLWACDNDPDCEDGSDEWPQRCRG	PQLWACDNDPDCKDGSDEWPQRCRG	7.0	7.0	-	-	3466_19:11216102-11216102 G>A_PQLWACDNDPDCKDGSDEWPQRCRG
16:55517005-55517005 T>C	1.0	3466	MELANOMA	-	-	-	-	MMP2	ENST00000570308,p.F37S|ENST00000543485,p.F37S|ENST00000437642,p.F63S|ENST00000568715,p.F37S|ENST00000219070,p.F113S|uc010ccc.3,p.F63S|ENST00000564864,p.F37S|NM_001127891,p.F63S|NM_004530,p.F113S|uc002ehz.4,p.F113S|uc010vhd.2,p.F37S	protein_coding, nonsense_mediated_decay	uc010vhd.2	nonsynonymous SNV	exon2	c.T110C	p.F37S	RCGNPDVANYNFFPRKPKWDKNQIT	RCGNPDVANYNFSPRKPKWDKNQIT	10.0	3.0	-	-	3466_16:55517005-55517005 T>C_RCGNPDVANYNFSPRKPKWDKNQIT
2:234675680-234675680 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1692202,COSM1692198,COSM1692200,COSM1692197,COSM1692199,COSM1692196,COSM1692201,COSM1692203,COSM1692204;OCCURENCE=1(skin)	-	UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9	ENST00000305208,p.E289K|ENST00000360418,p.E289K|uc002vvb.3,p.E289K|uc010znc.1,p.E289K|NM_000463,p.E289K	 nonsense_mediated_decay, processed_transcript,protein_coding	uc010znc.1	nonsynonymous SNV	exon2	c.G865A	p.E289K	GINCLHQNPLSQEFEAYINASGEHG	GINCLHQNPLSQKFEAYINASGEHG	1.0	3.0	unscreened	-	3466_2:234675680-234675680 G>A_GINCLHQNPLSQKFEAYINASGEHG
19:38964311-38964311 G>A	0.0	3466	MELANOMA	-	-	-	-	RYR1	uc002oit.3,p.E1354K|NM_001042723,p.E1354K|ENST00000355481,p.E1354K|uc002oiu.3,p.E1354K|ENST00000359596,p.E1354K|NM_000540,p.E1354K|ENST00000360985,p.E1354K	retained_intron, protein_coding, nonsense_mediated_decay	uc002oiu.3	nonsynonymous SNV	exon28	c.G4060A	p.E1354K	SEAENGKEGTAKEGAPGGTPQAGGE	SEAENGKEGTAKKGAPGGTPQAGGE	2.0	8.0	unscreened	-	3466_19:38964311-38964311 G>A_SEAENGKEGTAKKGAPGGTPQAGGE
2:234675680-234675680 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1692202,COSM1692198,COSM1692200,COSM1692197,COSM1692199,COSM1692196,COSM1692201,COSM1692203,COSM1692204;OCCURENCE=1(skin)	-	UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9	ENST00000373409,p.E290K|uc010zmz.1,p.E290K|ENST00000450233,p.E290K|NM_007120,p.E290K|uc010zna.1,p.E290K|uc002vuw.3,p.E290K|ENST00000373414,p.E290K|uc002vux.3,p.E290K|NM_019078,p.E290K	 nonsense_mediated_decay, processed_transcript,protein_coding	uc010zna.1	nonsynonymous SNV	exon2	c.G868A	p.E290K	GINCANGKPLSQEFEAYINASGEHG	GINCANGKPLSQKFEAYINASGEHG	1.0	3.0	unscreened	-	3466_2:234675680-234675680 G>A_GINCANGKPLSQKFEAYINASGEHG
2:234675680-234675680 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1692202,COSM1692198,COSM1692200,COSM1692197,COSM1692199,COSM1692196,COSM1692201,COSM1692203,COSM1692204;OCCURENCE=1(skin)	-	UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9	uc002vuy.3,p.E290K|NM_019093,p.E290K|ENST00000482026,p.E290K|uc010znb.1,p.E290K	 nonsense_mediated_decay, processed_transcript,protein_coding	uc010znb.1	nonsynonymous SNV	exon2	c.G868A	p.E290K	GINCANRKPLSQEFEAYINASGEHG	GINCANRKPLSQKFEAYINASGEHG	1.0	3.0	unscreened	-	3466_2:234675680-234675680 G>A_GINCANRKPLSQKFEAYINASGEHG
2:234675680-234675680 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1692202,COSM1692198,COSM1692200,COSM1692197,COSM1692199,COSM1692196,COSM1692201,COSM1692203,COSM1692204;OCCURENCE=1(skin)	-	UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9	uc010zmx.1,p.E286K|NM_019077,p.E286K|ENST00000373426,p.E286K|uc002vut.3,p.E286K	 nonsense_mediated_decay, processed_transcript,protein_coding	uc010zmx.1	nonsynonymous SNV	exon2	c.G856A	p.E286K	GINCHQGKPVPMEFEAYINASGEHG	GINCHQGKPVPMKFEAYINASGEHG	1.0	3.0	unscreened	-	3466_2:234675680-234675680 G>A_GINCHQGKPVPMKFEAYINASGEHG
2:234675680-234675680 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1692202,COSM1692198,COSM1692200,COSM1692197,COSM1692199,COSM1692196,COSM1692201,COSM1692203,COSM1692204;OCCURENCE=1(skin)	-	UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9	ENST00000354728,p.E286K|NM_021027,p.E286K|NM_019075,p.E286K|uc010zmv.1,p.E286K|ENST00000373445,p.E286K|uc002vuq.3,p.E286K|uc002vur.3,p.E286K|uc010zmw.1,p.E286K|NM_019076,p.E286K|ENST00000373450,p.E286K|uc002vup.3,p.E286K|ENST00000344644,p.E286K|uc002vus.3,p.E286K	 nonsense_mediated_decay, processed_transcript,protein_coding	uc010zmw.1	nonsynonymous SNV	exon2	c.G856A	p.E286K	GINCHQGKPLPMEFEAYINASGEHG	GINCHQGKPLPMKFEAYINASGEHG	1.0	3.0	unscreened	-	3466_2:234675680-234675680 G>A_GINCHQGKPLPMKFEAYINASGEHG
2:179451515-179451515 C>A, 2:179451516-179451516 C>T	0.0	3466	MELANOMA	-	-	-	-	TTN	NM_003319,p.R12306S|ENST00000342992,p.R18803S|uc031rqd.1,p.R19730S|NM_133437,p.R12498S|NM_133432,p.R12431S|NM_001256850,p.R19730S|ENST00000589042,p.R21371S|uc031rqc.1,p.R21371S|NM_133378,p.R18803S|uc021vsy.2,p.R18803S|uc021vta.2,p.R12431S|uc021vtb.2,p.R12306S|ENST00000591111,p.R19730S|ENST00000342175,p.R12498S|uc021vsz.2,p.R12498S|NM_001267550,p.R21371S|ENST00000460472,p.R12306S|ENST00000359218,p.R12431S	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon258	c.G59190T	p.R19730S	LASDPLSEPDPPRKLEVTEMTKNSA	LASDPLSEPDPPNKLEVTEMTKNSA	5.0	3.0	unscreened	Dinucleotide variant, 2:179451516-179451516 C>T, residue 13 R>N PR	3466_2:179451515-179451515 C>A, 2:179451516-179451516 C>T_LASDPLSEPDPPNKLEVTEMTKNSA
21:42729117-42729117 G>A	1.0	3466	MELANOMA	0.0027	-	-	-	FAM3B	ENST00000398647,p.R186Q|ENST00000398646,p.R257Q|uc002yzc.1,p.R186Q|ENST00000398652,p.R273Q|uc002yzb.1,p.R234Q|NM_058186,p.R234Q|ENST00000357985,p.R234Q|NM_206964,p.R186Q	protein_coding, processed_transcript	uc002yzc.1	nonsynonymous SNV	exon7	c.G557A	p.R186Q	AEIQIEGCIPKERS	AEIQIEGCIPKEQS	1.0	2.0	unscreened	-	3466_21:42729117-42729117 G>A_AEIQIEGCIPKEQS
3:62357024-62357024 C>T	0.0	3466	MELANOMA	-	-	-	-	FEZF2	ENST00000486811,p.E330K|uc003dli.2,p.E330K|ENST00000475839,p.E330K|NM_018008,p.E330K|uc003dlh.2,p.E330K|ENST00000283268,p.E330K	protein_coding	uc003dli.2	nonsynonymous SNV	exon4	c.G988A	p.E330K	STLCRHKIIHTQEKPHKCNQCGKAF	STLCRHKIIHTQKKPHKCNQCGKAF	1.0	3.0	unscreened	-	3466_3:62357024-62357024 C>T_STLCRHKIIHTQKKPHKCNQCGKAF
3:150645875-150645875 C>T	0.0	3466	MELANOMA	-	-	-	-	CLRN1	NM_001195794,p.E196K|ENST00000327047,p.E183K|ENST00000328863,p.E196K|NM_174878,p.E183K|uc003eyk.1,p.E183K|uc021xfs.1,p.E196K	retained_intron, protein_coding	uc021xfs.1	nonsynonymous SNV	exon4	c.G586A	p.E196K	YKEGTYVYKTQSEKYTTSFWVIFFC	YKEGTYVYKTQSKKYTTSFWVIFFC	1.0	3.0	unscreened	-	3466_3:150645875-150645875 C>T_YKEGTYVYKTQSKKYTTSFWVIFFC
4:141314998-141314998 C>T	0.0	3466	MELANOMA	-	-	-	-	CLGN	uc003iii.3,p.M449I|ENST00000537281,p.M449I|NM_004362,p.M449I|ENST00000325617,p.M449I|uc011chi.2,p.M449I|ENST00000414773,p.M449I|NM_001130675,p.M449I	protein_coding	uc011chi.2	nonsynonymous SNV	exon12	c.G1347A	p.M449I	DHWAADGWRWKIMIANANKPGVLKQ	DHWAADGWRWKIIIANANKPGVLKQ	1.0	5.0	unscreened	-	3466_4:141314998-141314998 C>T_DHWAADGWRWKIIIANANKPGVLKQ
2:179542540-179542540 C>T	0.0	3466	MELANOMA	-	-	-	-	TTN	NM_001256850,p.E11050K|ENST00000591111,p.E11050K|NM_001267550,p.E11367K|uc002umz.1,p.E6784K|NM_133378,p.E10123K|uc031rqc.1,p.E11367K|uc021vsy.2,p.E10123K|ENST00000589042,p.E11367K|ENST00000342992,p.E10123K|uc031rqd.1,p.E11050K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon144	c.G33148A	p.E11050K	EEIVPEEEVLPEEEEVLPEEEEVLP	EEIVPEEEVLPEKEEVLPEEEEVLP	5.0	7.0	unscreened	-	3466_2:179542540-179542540 C>T_EEIVPEEEVLPEKEEVLPEEEEVLP
8:62578013-62578013 G>A	0.0	3466	MELANOMA	-	-	-	-	ASPH	uc011lem.2,p.P144S|ENST00000522603,p.P144S|uc011lel.2,p.P159S|ENST00000389204,p.P159S|NM_032467,p.P144S|NM_020164,p.P159S	retained_intron, protein_coding, processed_transcript	uc011lem.2	nonsynonymous SNV	exon5	c.C430T	p.P144S	KIADADLSRKESPKGKKDREKEKVD	KIADADLSRKESSKGKKDREKEKVD	10.0	8.0	-	-	3466_8:62578013-62578013 G>A_KIADADLSRKESSKGKKDREKEKVD
20:57768655-57768655 G>A	0.0	3466	MELANOMA	0.0041	-	-	-	ZNF831	uc002yan.3,p.D861N|ENST00000371030,p.D861N|NM_178457,p.D861N	protein_coding	uc002yan.3	nonsynonymous SNV	exon1	c.G2581A	p.D861N	QPASLSSQKQDADPGEVPGGSKESA	QPASLSSQKQDANPGEVPGGSKESA	2.0	3.0	unscreened	-	3466_20:57768655-57768655 G>A_QPASLSSQKQDANPGEVPGGSKESA
2:14774372-14774372 G>A	0.0	3466	MELANOMA	-	-	-	-	FAM84A	uc021ved.1,p.R90Q|ENST00000331243,p.R90Q|NM_145175,p.R90Q|uc002rbz.2,p.R90Q|ENST00000295092,p.R90Q	protein_coding, processed_transcript	uc021ved.1	nonsynonymous SNV	exon1	c.G269A	p.R90Q	QLVLNETQFSAFRGQECIFSKVSGG	QLVLNETQFSAFQGQECIFSKVSGG	4.0	4.0	unscreened	-	3466_2:14774372-14774372 G>A_QLVLNETQFSAFQGQECIFSKVSGG
10:55582235-55582235 G>A	0.0	3466	MELANOMA	-	-	-	-	PCDH15	ENST00000437009,p.P1682S|ENST00000395432,p.P1711S|uc010qhz.1,p.P1753S|ENST00000361849,p.P1753S|uc021pqy.1,p.P1753S|ENST00000395433,p.P1728S|uc010qhy.1,p.P1758S|ENST00000395430,p.P1748S|uc010qhx.1,p.P1682S|NM_001142766,p.P1748S|uc001jju.1,p.P1751S|NM_001142768,p.P1731S|NM_001142765,p.P1682S|uc010qia.1,p.P1731S|ENST00000320301,p.P1751S|uc021pqz.1,p.P1728S|NM_001142764,p.P1753S|NM_001142773,p.P1728S|uc010qhv.1,p.P1748S|NM_001142767,p.P1711S|uc010qhw.1,p.P1711S|NM_001142763,p.P1758S|uc010qib.1,p.P1728S|NM_033056,p.P1751S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqz.1	nonsynonymous SNV	exon31	c.C5182T	p.P1728S	NISPSACPLPPPPPISPPSPPPAPA	NISPSACPLPPPSPISPPSPPPAPA	1.0	8.0	unscreened	-	3466_10:55582235-55582235 G>A_NISPSACPLPPPSPISPPSPPPAPA
1:166892019-166892019 G>A	0.0	3466	MELANOMA	-	-	-	-	ILDR2	NM_199351,p.S341F|ENST00000469934,p.S341F|ENST00000271417,p.S341F|uc001gdx.2,p.S341F|ENST00000525740,p.S214F|ENST00000526687,p.S233F|ENST00000529071,p.S322F|ENST00000528703,p.S282F	protein_coding	uc001gdx.2	nonsynonymous SNV	exon8	c.C1022T	p.S341F	RGRYNNTISELSSLHEEDSNFRQSF	RGRYNNTISELSFLHEEDSNFRQSF	1.0	6.0	unscreened	-	3466_1:166892019-166892019 G>A_RGRYNNTISELSFLHEEDSNFRQSF
2:179605026-179605026 C>T	0.0	3466	MELANOMA	-	-	ID=COSM230938,COSM230937,COSM230939;OCCURENCE=1(skin)	-	TTN	NM_133432,p.E4074K|NM_003319,p.E3949K|NM_133437,p.E4141K|uc031rqd.1,p.E3995K|uc021vta.2,p.E4074K|ENST00000460472,p.E3949K|ENST00000342175,p.E4141K|NM_001256850,p.E3995K|ENST00000589042,p.E4312K|ENST00000591111,p.E3995K|ENST00000359218,p.E4074K|NM_001267550,p.E4312K|uc031rqc.1,p.E4312K|uc021vtb.2,p.E3949K|uc021vsz.2,p.E4141K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon46	c.G11983A	p.E3995K	GGKILIESANPLENAGQDSAVRIEE	GGKILIESANPLKNAGQDSAVRIEE	5.0	7.0	unscreened	-	3466_2:179605026-179605026 C>T_GGKILIESANPLKNAGQDSAVRIEE
22:28379261-28379261 C>T	1.0	3466	MELANOMA	-	-	-	-	TTC28	ENST00000397906,p.D2132N|NM_001145418,p.D2132N|uc003adp.4,p.D2132N	retained_intron, protein_coding, processed_transcript	uc003adp.4	nonsynonymous SNV	exon23	c.G6394A	p.D2132N	SPFQKVGKLASSDTGESDQSSTETD	SPFQKVGKLASSNTGESDQSSTETD	4.0	2.0	unscreened	-	3466_22:28379261-28379261 C>T_SPFQKVGKLASSNTGESDQSSTETD
16:55844441-55844441 G>A	0.0	3466	MELANOMA	-	-	-	-	CES1	ENST00000422046,p.R434W|uc002eim.3,p.R435W|NM_001025195,p.R436W|uc002eil.3,p.R436W|ENST00000361503,p.R435W|uc002ein.3,p.R434W|ENST00000360526,p.R436W|NM_001266,p.R434W|NM_001025194,p.R435W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ein.3	nonsynonymous SNV	exon11	c.C1300T	p.R434W	DVMFGVPSVIVARNHRDAGAPTYMY	DVMFGVPSVIVAWNHRDAGAPTYMY	1.0	3.0	unscreened	-	3466_16:55844441-55844441 G>A_DVMFGVPSVIVAWNHRDAGAPTYMY
4:166965553-166965553 G>A	0.0	3466	MELANOMA	-	-	-	-	TLL1	ENST00000507499,p.A521T|uc011cjn.2,p.A521T	protein_coding, nonsense_mediated_decay	uc011cjn.2	nonsynonymous SNV	exon13	c.G1561A	p.A521T	QEHQENPGIASKARESLILIWKPIE	QEHQENPGIASKTRESLILIWKPIE	2.0	4.0	unscreened	-	3466_4:166965553-166965553 G>A_QEHQENPGIASKTRESLILIWKPIE
1:75037360-75037360 C>T, 1:75037361-75037361 C>T	0.0	3466	MELANOMA	-	-	-	-	ERICH3	NM_001002912,p.G1345E|uc001dgg.3,p.G1345E|ENST00000326665,p.G1345E	protein_coding, processed_transcript	uc001dgg.3	nonsynonymous SNV	exon14	c.G4034A	p.G1345E	GGGRVVAVEVLHGGGETAETAAEER	GGGRVVAVEVLHKGGETAETAAEER	2.0	7.0	unscreened	Dinucleotide, 1:75037361-75037361 C>T, residue 13 G>K PR	3466_1:75037360-75037360 C>T, 1:75037361-75037361 C>T_GGGRVVAVEVLHKGGETAETAAEER
19:35622193-35622193 C>T	0.0	3466	MELANOMA	0.0005	-	-	-	LGI4	uc002nya.3,p.R242Q|ENST00000591633,p.R242Q	retained_intron, protein_coding, processed_transcript	uc002nya.3	nonsynonymous SNV	exon6	c.G725A	p.R242Q	QEARLTPCPAISRSGKTLSKQHCLP	QEARLTPCPAISQSGKTLSKQHCLP	9.0	3.0	unscreened	-	3466_19:35622193-35622193 C>T_QEARLTPCPAISQSGKTLSKQHCLP
4:144620450-144620450 C>T	0.0	3466	MELANOMA	-	-	-	-	FREM3	NM_001168235,p.S460N|uc021xsj.1,p.S460N|ENST00000329798,p.S460N	protein_coding, processed_transcript	uc021xsj.1	nonsynonymous SNV	exon1	c.G1379A	p.S460N	SRPLSSTHSIPISDKDNLEEVKMAA	SRPLSSTHSIPINDKDNLEEVKMAA	1.0	3.0	unscreened	-	3466_4:144620450-144620450 C>T_SRPLSSTHSIPINDKDNLEEVKMAA
11:116969005-116969005 G>A	1.0	3466	MELANOMA	-	-	-	-	SIK3	NM_025164,p.P43S|NM_001281749,p.P43S|ENST00000375300,p.P43S|ENST00000446921,p.P43S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	NM_025164	nonsynonymous SNV	exon1	c.C127T	p.P43S	APGSPAAPAAVSPAAGQPRPPAPAS	APGSPAAPAAVSSAAGQPRPPAPAS	7.0	3.0	unscreened	-	3466_11:116969005-116969005 G>A_APGSPAAPAAVSSAAGQPRPPAPAS
2:234675680-234675680 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1692202,COSM1692198,COSM1692200,COSM1692197,COSM1692199,COSM1692196,COSM1692201,COSM1692203,COSM1692204;OCCURENCE=1(skin)	-	UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9	ENST00000446481,p.E21K|uc010zmy.1,p.E288K|ENST00000373424,p.E21K|uc002vuu.3,p.E21K|uc002vuv.4,p.E288K|ENST00000406651,p.E21K|ENST00000305139,p.E288K|NM_001072,p.E288K|NM_205862,p.E21K	 nonsense_mediated_decay, processed_transcript,protein_coding	uc010zmy.1	nonsynonymous SNV	exon2	c.G862A	p.E288K	GINCKKRKDLSQEFEAYINASGEHG	GINCKKRKDLSQKFEAYINASGEHG	1.0	3.0	unscreened	-	3466_2:234675680-234675680 G>A_GINCKKRKDLSQKFEAYINASGEHG
14:45431737-45431737 T>C	0.0	3466	MELANOMA	-	-	-	-	FAM179B	ENST00000557423,p.V38A|ENST00000361462,p.V38A|NM_015091,p.V38A|uc001wvw.3,p.V38A|ENST00000361577,p.V38A|uc001wvv.3,p.V38A|ENST00000382233,p.V38A|uc001wvu.3,p.V38A|uc010anb.1,p.V38A	retained_intron, protein_coding, nonsense_mediated_decay	uc010anb.1	nonsynonymous SNV	exon1	c.T113C	p.V38A	SRPSAPETDDSRVGGIMRGEKNYYF	SRPSAPETDDSRAGGIMRGEKNYYF	7.0	3.0	unscreened	-	3466_14:45431737-45431737 T>C_SRPSAPETDDSRAGGIMRGEKNYYF
19:56701483-56701483 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1612888,COSM1612889;OCCURENCE=2(liver)	-	ZSCAN5B	NM_001080456,p.H401Y|ENST00000358992,p.H401Y|uc010ygh.2,p.H401Y|ENST00000586855,p.H401Y	protein_coding	uc010ygh.2	nonsynonymous SNV	exon4	c.C1201T	p.H401Y	RKRFLQPSDLRVHQRVHTGERPYMC	RKRFLQPSDLRVYQRVHTGERPYMC	1.0	7.0	unscreened	-	3466_19:56701483-56701483 G>A_RKRFLQPSDLRVYQRVHTGERPYMC
2:101606851-101606851 C>T	0.0	3466	MELANOMA	-	-	-	-	NPAS2	uc002tap.1,p.S654F|uc010yvt.1,p.S719F|ENST00000542504,p.S719F|ENST00000335681,p.S654F|NM_002518,p.S654F	retained_intron, protein_coding, processed_transcript	uc010yvt.1	nonsynonymous SNV	exon18	c.C2156T	p.S719F	PPSLNLTTPASTSQDASQCQPSPDF	PPSLNLTTPASTFQDASQCQPSPDF	5.0	7.0	unscreened	-	3466_2:101606851-101606851 C>T_PPSLNLTTPASTFQDASQCQPSPDF
10:98188464-98188464 C>T	0.0	3466	MELANOMA	-	-	-	-	TLL2	ENST00000357947,p.E188K|uc001kml.2,p.E188K|NM_012465,p.E188K|uc009xvf.2,p.E136K	protein_coding, processed_transcript	uc009xvf.2	nonsynonymous SNV	exon4	c.G406A	p.E136K	QRAIFKQAMRHWEKHTCVTFIERTD	QRAIFKQAMRHWKKHTCVTFIERTD	1.0	5.0	unscreened	-	3466_10:98188464-98188464 C>T_QRAIFKQAMRHWKKHTCVTFIERTD
12:6690213-6690213 T>G	1.0	3466	MELANOMA	-	-	-	1	CHD4	uc001qpo.3,p.K1636Q|ENST00000544040,p.K1629Q|NM_001297553,p.K1629Q|ENST00000357008,p.K1636Q|uc001qpp.3,p.K1661Q|ENST00000309577,p.K1664Q|ENST00000544484,p.K1661Q|NM_001273,p.K1636Q|uc001qpn.3,p.K1629Q	retained_intron, protein_coding, processed_transcript	uc001qpp.3	nonsynonymous SNV	exon32	c.A4981C	p.K1661Q	KERTEEPMETEPKGAADVEKVEEKS	KERTEEPMETEPQGAADVEKVEEKS	10.0	4.0	-	-	3466_12:6690213-6690213 T>G_KERTEEPMETEPQGAADVEKVEEKS
11:70336362-70336362 G>A	0.0	3466	MELANOMA	-	-	-	-	SHANK2	ENST00000449116,p.P259L|uc010rqp.1,p.P259L|ENST00000409530,p.P268L|uc010rqo.1,p.P70L|ENST00000357171,p.P269L	protein_coding, processed_transcript	uc010rqp.1	nonsynonymous SNV	exon6	c.C776T	p.P259L	RRQKSIGKKCGTPPQKLPLGFQTQP	RRQKSIGKKCGTLPQKLPLGFQTQP	2.0	6.0	unscreened	-	3466_11:70336362-70336362 G>A_RRQKSIGKKCGTLPQKLPLGFQTQP
11:59604767-59604767 C>T	0.0	3466	MELANOMA	-	-	-	-	GIF	uc001noi.3,p.D251N|NM_005142,p.D251N|ENST00000541311,p.D226N|ENST00000257248,p.D251N	retained_intron, protein_coding, nonsense_mediated_decay	uc001noi.3	nonsynonymous SNV	exon6	c.G751A	p.D251N	PSKKEWNCKKTTDMILNEIKQGKFH	PSKKEWNCKKTTNMILNEIKQGKFH	1.0	6.0	unscreened	-	3466_11:59604767-59604767 C>T_PSKKEWNCKKTTNMILNEIKQGKFH
10:28378660-28378660 C>T	0.0	3466	MELANOMA	-	-	-	-	MPP7	uc001iua.1,p.E355K|ENST00000441595,p.E116K|uc001iub.1,p.E355K|ENST00000496637,p.E355K|ENST00000375719,p.E355K|uc009xla.2,p.E355K|ENST00000540098,p.E355K|ENST00000375732,p.E355K|ENST00000445954,p.E230K|NM_173496,p.E355K|ENST00000337532,p.E355K	protein_coding, processed_transcript	uc009xla.2	nonsynonymous SNV	exon12	c.G1063A	p.E355K	SDQYDTADVPTYEEVTPYRRQTNEK	SDQYDTADVPTYKEVTPYRRQTNEK	1.0	7.0	unscreened	-	3466_10:28378660-28378660 C>T_SDQYDTADVPTYKEVTPYRRQTNEK
8:101011582-101011582 C>T	0.0	3466	MELANOMA	-	-	-	-	RGS22	NM_001286693,p.E772K|uc003yjc.1,p.E941K|uc003yja.1,p.E772K|NM_001286692,p.E941K|uc003yjb.1,p.E953K|NM_015668,p.E953K|uc022azf.1,p.E342K|ENST00000523437,p.E941K|ENST00000360863,p.E953K|ENST00000523287,p.E772K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022azf.1	nonsynonymous SNV	exon8	c.G1024A	p.E342K	ILHEQLDAPVLVEIQKHVQNRLENV	ILHEQLDAPVLVKIQKHVQNRLENV	1.0	4.0	unscreened	-	3466_8:101011582-101011582 C>T_ILHEQLDAPVLVKIQKHVQNRLENV
19:51169921-51169921 C>T	0.0	3466	MELANOMA	-	-	-	-	SHANK1	ENST00000391813,p.G1153R|ENST00000359082,p.G1757R|NM_016148,p.G1766R|ENST00000293441,p.G1766R|ENST00000391814,p.G1774R|ENST00000468654,p.G24R|uc002psx.1,p.G1766R|uc002psw.1,p.G1150R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002psx.1	nonsynonymous SNV	exon22	c.G5296A	p.G1766R	PSKLRGRALGASGGLRPGPSGGLRD	PSKLRGRALGASRGLRPGPSGGLRD	4.0	7.0	unscreened	-	3466_19:51169921-51169921 C>T_PSKLRGRALGASRGLRPGPSGGLRD
12:29640803-29640803 C>T	0.0	3466	MELANOMA	-	-	-	-	OVCH1	NM_183378,p.G239R|uc001rix.1,p.G239R|ENST00000318184,p.G239R	protein_coding, nonsense_mediated_decay	uc001rix.1	nonsynonymous SNV	exon7	c.G715A	p.G239R	DWGMDACQGDSGGPLVCRRGGGIWI	DWGMDACQGDSGRPLVCRRGGGIWI	1.0	4.0	unscreened	-	3466_12:29640803-29640803 C>T_DWGMDACQGDSGRPLVCRRGGGIWI
1:62739983-62739983 C>T	0.0	3466	MELANOMA	-	-	-	-	KANK4	NM_181712,p.E265K|ENST00000371153,p.E265K|uc001dah.4,p.E265K	protein_coding	uc001dah.4	nonsynonymous SNV	exon3	c.G793A	p.E265K	SFQNVLVVLEDKEDEHNAREAEVLF	SFQNVLVVLEDKKDEHNAREAEVLF	2.0	8.0	unscreened	-	3466_1:62739983-62739983 C>T_SFQNVLVVLEDKKDEHNAREAEVLF
1:152659443-152659443 C>T	0.0	3466	MELANOMA	-	-	-	-	LCE2B	uc021ozd.1,p.P42S|ENST00000368780,p.P42S|NM_014357,p.P42S|ENST00000417924,p.P42S|uc001fai.3,p.P42S	protein_coding	uc021ozd.1	nonsynonymous SNV	exon1	c.C124T	p.P42S	PKCLPQCPAPCSPAVSSCCGPISGG	PKCLPQCPAPCSSAVSSCCGPISGG	1.0	8.0	unscreened	-	3466_1:152659443-152659443 C>T_PKCLPQCPAPCSSAVSSCCGPISGG
16:55844441-55844441 G>A	0.0	3466	MELANOMA	-	-	-	-	CES1	ENST00000563241,p.R43W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000563241	nonsynonymous SNV	exon1	c.C127T	p.R43W	DVMFGVPSVIVARNHREGASEEEIR	DVMFGVPSVIVAWNHREGASEEEIR	1.0	3.0	unscreened	-	3466_16:55844441-55844441 G>A_DVMFGVPSVIVAWNHREGASEEEIR
19:56206214-56206214 C>T	1.0	3466	MELANOMA	-	-	-	-	EPN1	NM_001130071,p.P549S|NM_013333,p.P437S|ENST00000270460,p.P463S|uc002qlw.3,p.P463S|NM_001130072,p.P463S|uc002qlv.3,p.P437S|ENST00000411543,p.P549S|ENST00000085079,p.P437S|uc010etd.3,p.P462S|uc002qlx.3,p.P549S	retained_intron, protein_coding, processed_transcript	uc010etd.3	nonsynonymous SNV	exon10	c.C1384T	p.P462S	AVGSPPPAATPTPTPPTRKTPESFL	AVGSPPPAATPTSTPPTRKTPESFL	7.0	7.0	-	-	3466_19:56206214-56206214 C>T_AVGSPPPAATPTSTPPTRKTPESFL
1:32950825-32950825 G>A	0.0	3466	MELANOMA	-	-	-	-	ZBTB8B	ENST00000415091,p.D432N|ENST00000480336,p.D432N|NM_001145720,p.D432N|uc001bvl.4,p.D432N	nonsense_mediated_decay,protein_coding	uc001bvl.4	nonsynonymous SNV	exon4	c.G1294A	p.D432N	LCDSCTCVTDTPDDDDDLMPINLSL	LCDSCTCVTDTPNDDDDLMPINLSL	1.0	3.0	unscreened	-	3466_1:32950825-32950825 G>A_LCDSCTCVTDTPNDDDDLMPINLSL
1:201331051-201331051 C>T	0.0	3466	MELANOMA	-	-	-	-	TNNT2	ENST00000360372,p.D222N|ENST00000367317,p.D227N|NM_001001430,p.D227N|ENST00000509001,p.D227N|ENST00000367318,p.D227N|NM_001001431,p.D224N|ENST00000367322,p.D224N|ENST00000236918,p.D232N|uc009wzr.4,p.D165N|uc001gwg.4,p.D224N|NM_001001432,p.D221N|NM_001276345,p.D237N|ENST00000438742,p.D221N|NM_001276347,p.D227N|uc021phc.2,p.D227N|NM_000364,p.D234N|uc001gwi.4,p.D194N|ENST00000421663,p.D230N|ENST00000367315,p.D224N|ENST00000367320,p.D194N|NM_001276346,p.D194N|ENST00000458432,p.D236N	retained_intron, protein_coding, processed_transcript	uc021phc.2	nonsynonymous SNV	exon12	c.G679A	p.D227N	RRKVLAIDHLNEDQLREKAKELWQS	RRKVLAIDHLNENQLREKAKELWQS	3.0	3.0	unscreened	-	3466_1:201331051-201331051 C>T_RRKVLAIDHLNENQLREKAKELWQS
8:7308422-7308422 C>T	0.0	3466	MELANOMA	-	-	-	-	SPAG11B	NM_058207,p.G19E|ENST00000458665,p.G19E|uc003wrj.3,p.G19E	protein_coding, nonsense_mediated_decay	uc003wrj.3	nonsynonymous SNV	exon2	c.G56A	p.G19E	FAVLFCLVQTNSGDVPPGIRNTICH	FAVLFCLVQTNSEDVPPGIRNTICH	1.0	7.0	unscreened	-	3466_8:7308422-7308422 C>T_FAVLFCLVQTNSEDVPPGIRNTICH
1:169511998-169511998 T>A	0.0	3466	MELANOMA	-	-	-	-	F5	uc001ggg.1,p.Y777F|ENST00000367796,p.Y782F|NM_000130,p.Y777F|ENST00000367797,p.Y777F	protein_coding, processed_transcript	uc001ggg.1	nonsynonymous SNV	exon13	c.A2330T	p.Y777F	VSSNTDIIVGSNYSSPSNISKFTVN	VSSNTDIIVGSNFSSPSNISKFTVN	3.0	6.0	unscreened	-	3466_1:169511998-169511998 T>A_VSSNTDIIVGSNFSSPSNISKFTVN
20:61460980-61460980 G>A	1.0	3466	MELANOMA	-	-	-	-	COL9A3	ENST00000343916,p.G352S|NM_001853,p.G352S|uc002ydm.3,p.G352S	retained_intron, protein_coding, processed_transcript	uc002ydm.3	nonsynonymous SNV	exon21	c.G1054A	p.G352S	GRAGSKGEKGERGRAGELGEAGPSG	GRAGSKGEKGERSRAGELGEAGPSG	10.0	4.0	-	-	3466_20:61460980-61460980 G>A_GRAGSKGEKGERSRAGELGEAGPSG
20:41306554-41306554 C>T	0.0	3466	MELANOMA	-	-	-	1	PTPRT	uc002xkg.3,p.G369S|ENST00000373190,p.G369S|ENST00000356100,p.G369S|ENST00000373184,p.G369S|ENST00000373198,p.G369S|ENST00000373193,p.G369S|uc010ggj.3,p.G369S|ENST00000373187,p.G369S|NM_133170,p.G369S|ENST00000373201,p.G369S|NM_007050,p.G369S	protein_coding, processed_transcript	uc010ggj.3	nonsynonymous SNV	exon7	c.G1105A	p.G369S	EIRVLLTRPGEGGTGPPGPPLTTRT	EIRVLLTRPGEGSTGPPGPPLTTRT	1.0	7.0	unscreened	-	3466_20:41306554-41306554 C>T_EIRVLLTRPGEGSTGPPGPPLTTRT
1:145747138-145747138 G>A	0.0	3466	MELANOMA	-	-	-	-	PDZK1	ENST00000417171,p.G32D|NM_001201326,p.G32D|ENST00000443667,p.G32D|ENST00000451928,p.G32D|NM_002614,p.G32D|uc001eon.2,p.G32D|NM_001201325,p.G32D|uc010oza.2,p.G32D|ENST00000344770,p.G32D|uc001eoo.2,p.G32D	protein_coding, processed_transcript	uc010oza.2	nonsynonymous SNV	exon2	c.G95A	p.G32D	YGFFLRIEKDTEGHLVRVVEKCSPA	YGFFLRIEKDTEDHLVRVVEKCSPA	3.0	6.0	unscreened	-	3466_1:145747138-145747138 G>A_YGFFLRIEKDTEDHLVRVVEKCSPA
1:57221585-57221585 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1687747;OCCURENCE=2(skin)	-	C1orf168	ENST00000343433,p.P372S|uc001cym.4,p.P372S|NM_001004303,p.P372S	retained_intron, protein_coding, processed_transcript	uc001cym.4	nonsynonymous SNV	exon7	c.C1114T	p.P372S	GIEELQKPGKNFPYPEPSAKHEDKK	GIEELQKPGKNFSYPEPSAKHEDKK	1.0	7.0	unscreened	-	3466_1:57221585-57221585 G>A_GIEELQKPGKNFSYPEPSAKHEDKK
15:72063529-72063529 G>A	0.0	3466	MELANOMA	-	-	-	-	THSD4	ENST00000357769,p.D606N|ENST00000355327,p.D966N|ENST00000261862,p.D966N|uc002atb.1,p.D966N|NM_001286429,p.D606N|NM_024817,p.D966N|uc002ate.2,p.D606N	retained_intron, protein_coding, processed_transcript	uc002ate.2	nonsynonymous SNV	exon11	c.G1816A	p.D606N	LKPEERESCNPQDCVPEVDENCKDK	LKPEERESCNPQNCVPEVDENCKDK	1.0	7.0	unscreened	-	3466_15:72063529-72063529 G>A_LKPEERESCNPQNCVPEVDENCKDK
1:145747137-145747137 G>A	0.0	3466	MELANOMA	-	-	-	-	PDZK1	uc010oza.2,p.G32S|ENST00000451928,p.G32S|uc001eoo.2,p.G32S|NM_001201326,p.G32S|uc001eon.2,p.G32S|NM_002614,p.G32S|ENST00000443667,p.G32S|NM_001201325,p.G32S|ENST00000417171,p.G32S|ENST00000344770,p.G32S	protein_coding, processed_transcript	uc010oza.2	nonsynonymous SNV	exon2	c.G94A	p.G32S	YGFFLRIEKDTEGHLVRVVEKCSPA	YGFFLRIEKDTESHLVRVVEKCSPA	3.0	6.0	unscreened	-	3466_1:145747137-145747137 G>A_YGFFLRIEKDTESHLVRVVEKCSPA
8:87738790-87738790 C>T	0.0	3466	MELANOMA	-	-	-	-	CNGB3	ENST00000320005,p.E103K|NM_019098,p.E103K|uc003ydx.3,p.E103K	protein_coding, processed_transcript	uc003ydx.3	nonsynonymous SNV	exon3	c.G307A	p.E103K	AAEPTGTVPEQKEMDPGKEGPNSPQ	AAEPTGTVPEQKKMDPGKEGPNSPQ	1.0	8.0	unscreened	-	3466_8:87738790-87738790 C>T_AAEPTGTVPEQKKMDPGKEGPNSPQ
3:150645875-150645875 C>T	0.0	3466	MELANOMA	-	-	-	-	CLRN1	uc003eyj.3,p.E107K|ENST00000295911,p.E107K|NM_052995,p.E107K	retained_intron, protein_coding	uc003eyj.3	nonsynonymous SNV	exon3	c.G319A	p.E107K	YKEGTYVYKTQSEKYTTSFWLTKGH	YKEGTYVYKTQSKKYTTSFWLTKGH	1.0	3.0	unscreened	-	3466_3:150645875-150645875 C>T_YKEGTYVYKTQSKKYTTSFWLTKGH
1:167358873-167358873 C>T	1.0	3466	MELANOMA	-	-	-	-	POU2F1	uc010plh.2,p.P225S|ENST00000367862,p.P277S|NM_001198783,p.P277S|ENST00000558944,p.P288S|ENST00000541643,p.P265S|ENST00000367866,p.P288S|uc001ged.3,p.P263S|NM_002697,p.P288S|NM_001198786,p.P225S|ENST00000443275,p.P173S|ENST00000429375,p.P225S|uc001geg.3,p.P163S|uc001gef.3,p.P277S|uc001gee.3,p.P288S|ENST00000420254,p.P265S|uc001gec.3,p.P265S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010plh.2	nonsynonymous SNV	exon8	c.C673T	p.P225S	TRTIAATPIQTLPQSQSTPKRIDTP	TRTIAATPIQTLSQSQSTPKRIDTP	6.0	7.0	unscreened	-	3466_1:167358873-167358873 C>T_TRTIAATPIQTLSQSQSTPKRIDTP
2:179733910-179733910 T>A	0.0	3466	MELANOMA	-	-	-	-	CCDC141	ENST00000443758,p.K776N|ENST00000295723,p.K201N|uc002une.2,p.K776N|ENST00000420890,p.K776N|ENST00000343876,p.K220N|NM_173648,p.K776N|uc002unf.1,p.K255N	protein_coding, processed_transcript	uc002unf.1	nonsynonymous SNV	exon5	c.A765T	p.K255N	QLKDLIHFHQKQKERIQDYEDILYK	QLKDLIHFHQKQNERIQDYEDILYK	3.0	3.0	unscreened	-	3466_2:179733910-179733910 T>A_QLKDLIHFHQKQNERIQDYEDILYK
10:84118498-84118498 C>G	0.0	3466	MELANOMA	-	-	ID=COSM94870;OCCURENCE=1(lung)	-	NRG3	ENST00000555784,p.R47G	protein_coding, nonsense_mediated_decay	ENST00000555784	nonsynonymous SNV	exon2	c.C139G	p.R47G	TIPEVFKEKPKIRRHIPQSDPSTSN	TIPEVFKEKPKIGRHIPQSDPSTSN	1.0	3.0	unscreened	-	3466_10:84118498-84118498 C>G_TIPEVFKEKPKIGRHIPQSDPSTSN
12:18889236-18889236 T>A	0.0	3466	MELANOMA	-	-	-	-	PLCZ1	ENST00000539072,p.K38N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000539072	nonsynonymous SNV	exon4	c.A114T	p.K38N	QRGQIQDDFRGGKINLEKTQRLLEK	QRGQIQDDFRGGNINLEKTQRLLEK	1.0	4.0	unscreened	-	3466_12:18889236-18889236 T>A_QRGQIQDDFRGGNINLEKTQRLLEK
2:140995777-140995777 G>A	0.0	3466	MELANOMA	-	-	-	1	LRP1B	NM_018557,p.H4502Y|ENST00000389484,p.H4502Y|uc002tvj.1,p.H4502Y	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon89	c.C13504T	p.H4502Y	IGNPSYNMYEVDHDHNDGGLLDPGF	IGNPSYNMYEVDYDHNDGGLLDPGF	1.0	7.0	unscreened	-	3466_2:140995777-140995777 G>A_IGNPSYNMYEVDYDHNDGGLLDPGF
1:160340669-160340669 C>T	0.0	3466	MELANOMA	-	-	-	-	NHLH1	uc001fwa.2,p.P50S|ENST00000302101,p.P50S|uc021pbs.1,p.P50S|NM_005598,p.P50S	protein_coding	uc021pbs.1	nonsynonymous SNV	exon1	c.C148T	p.P50S	GGPGGGQARGPEPGEPGRKDLQHLS	GGPGGGQARGPESGEPGRKDLQHLS	1.0	3.0	unscreened	-	3466_1:160340669-160340669 C>T_GGPGGGQARGPESGEPGRKDLQHLS
16:23203857-23203857 A>G	0.0	3466	MELANOMA	-	-	-	-	SCNN1G	uc002dlm.1,p.D268G|NM_001039,p.D268G|ENST00000300061,p.D268G	protein_coding	uc002dlm.1	nonsynonymous SNV	exon4	c.A803G	p.D268G	LLVTCFFDGVSCDARNFTLFHHPMH	LLVTCFFDGVSCGARNFTLFHHPMH	1.0	6.0	unscreened	-	3466_16:23203857-23203857 A>G_LLVTCFFDGVSCGARNFTLFHHPMH
12:18889236-18889236 T>A	0.0	3466	MELANOMA	-	-	-	-	PLCZ1	ENST00000435379,p.K16N|ENST00000539207,p.K18N|ENST00000266505,p.K18N|ENST00000447925,p.K16N|NM_033123,p.K18N|uc021qvx.2,p.K18N|ENST00000539875,p.K18N|ENST00000535429,p.K18N|ENST00000318197,p.K18N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qvx.2	nonsynonymous SNV	exon3	c.A54T	p.K18N	FLSKIQDDFRGGKINLEKTQRLLEK	FLSKIQDDFRGGNINLEKTQRLLEK	1.0	4.0	unscreened	-	3466_12:18889236-18889236 T>A_FLSKIQDDFRGGNINLEKTQRLLEK
20:40980868-40980868 C>T	0.0	3466	MELANOMA	-	-	-	1	PTPRT	NM_007050,p.G540R|ENST00000373198,p.G540R|uc010ggj.3,p.G540R|ENST00000373190,p.G540R|ENST00000373184,p.G540R|uc002xkg.3,p.G540R|ENST00000373193,p.G540R|ENST00000373201,p.G540R|NM_133170,p.G540R|ENST00000356100,p.G540R|ENST00000373187,p.G540R	protein_coding, processed_transcript	uc010ggj.3	nonsynonymous SNV	exon10	c.G1618A	p.G540R	SLDPSADLSSQRGKVFKLRNETHHL	SLDPSADLSSQRRKVFKLRNETHHL	1.0	3.0	unscreened	-	3466_20:40980868-40980868 C>T_SLDPSADLSSQRRKVFKLRNETHHL
1:152276743-152276743 C>G	0.0	3466	MELANOMA	-	-	-	-	FLG	uc001ezu.1,p.S3540T|ENST00000368799,p.S3540T|NM_002016,p.S3540T	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.G10619C	p.S3540T	GPRTSRNQGSSVSQDSDSQGHSEDS	GPRTSRNQGSSVTQDSDSQGHSEDS	1.0	8.0	unscreened	-	3466_1:152276743-152276743 C>G_GPRTSRNQGSSVTQDSDSQGHSEDS
16:7629830-7629830 G>A	0.0	3466	MELANOMA	-	-	-	-	RBFOX1	uc002cyt.2,p.E108K|uc010uyb.1,p.E108K|uc002cyw.2,p.E128K|ENST00000311745,p.E128K|uc002cyr.1,p.E107K|uc010buf.1,p.E108K|uc002cyy.2,p.E128K|ENST00000355637,p.E128K|NM_001142333,p.E108K|ENST00000422070,p.E151K|uc010uxz.1,p.E151K|ENST00000340209,p.E113K|NM_145891,p.E128K|uc010uyc.1,p.E128K|ENST00000550418,p.E108K|ENST00000547338,p.E108K|ENST00000551752,p.E108K|NM_001142334,p.E108K|ENST00000552089,p.E143K|ENST00000547372,p.E151K|uc002cyv.1,p.E108K|NM_145893,p.E128K|NM_018723,p.E108K|ENST00000436368,p.E128K|ENST00000570626,p.E110K|NM_145892,p.E128K|uc002cys.2,p.E108K|ENST00000547605,p.E107K|ENST00000553186,p.E108K|uc002cyx.2,p.E128K	retained_intron, protein_coding, processed_transcript	uc010uyc.1	nonsynonymous SNV	exon3	c.G382A	p.E128K	APTDGQPQTQPSENTENKSQPKRLH	APTDGQPQTQPSKNTENKSQPKRLH	1.0	8.0	unscreened	-	3466_16:7629830-7629830 G>A_APTDGQPQTQPSKNTENKSQPKRLH
19:2877888-2877888 G>A	0.0	3466	MELANOMA	-	-	-	-	ZNF556	ENST00000307635,p.G311E|NM_001300843,p.G310E|uc002lwp.1,p.G311E|uc002lwq.3,p.G310E|NM_024967,p.G311E|ENST00000586426,p.G310E	protein_coding, nonsense_mediated_decay	uc002lwq.3	nonsynonymous SNV	exon4	c.G929A	p.G310E	ATSFQRHVRIHNGEKPYKCGKCGKA	ATSFQRHVRIHNEEKPYKCGKCGKA	1.0	8.0	unscreened	-	3466_19:2877888-2877888 G>A_ATSFQRHVRIHNEEKPYKCGKCGKA
11:46726649-46726649 C>T	1.0	3466	MELANOMA	-	-	-	-	ZNF408	uc010rgw.2,p.P459S|NM_024741,p.P467S|uc001nde.2,p.P467S|NM_001184751,p.P459S|ENST00000311764,p.P467S	retained_intron, protein_coding	uc010rgw.2	nonsynonymous SNV	exon5	c.C1375T	p.P459S	HRKTHQVPAAPAPCPCPVCGRPLAN	HRKTHQVPAAPASCPCPVCGRPLAN	4.0	7.0	-	-	3466_11:46726649-46726649 C>T_HRKTHQVPAAPASCPCPVCGRPLAN
8:3076920-3076920 C>T	0.0	3466	MELANOMA	-	-	-	-	CSMD1	ENST00000602557,p.G1511E|ENST00000520002,p.G1511E|ENST00000602723,p.G1511E|uc011kwj.2,p.G903E|ENST00000542608,p.G1510E|NM_033225,p.G1510E|uc022aqr.1,p.G1510E|ENST00000400186,p.G1511E|uc003wqe.3,p.G667E|ENST00000539096,p.G1510E|ENST00000537824,p.G1510E	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon29	c.G4529A	p.G1510E	MEPSYDFLHIYEGEDSNSPLIGSYQ	MEPSYDFLHIYEEEDSNSPLIGSYQ	1.0	7.0	unscreened	-	3466_8:3076920-3076920 C>T_MEPSYDFLHIYEEEDSNSPLIGSYQ
10:50122158-50122158 G>T	0.0	3466	MELANOMA	-	-	-	-	LRRC18	ENST00000374160,p.L15I|uc001jhd.3,p.L15I|NM_001006939,p.L15I|ENST00000298124,p.L15I|uc001jhe.1,p.L15I	protein_coding	uc001jhe.1	nonsynonymous SNV	exon2	c.C43A	p.L15I	KGEKGPKGKKITLKVARNCIKITFD	KGEKGPKGKKITIKVARNCIKITFD	1.0	4.0	unscreened	-	3466_10:50122158-50122158 G>T_KGEKGPKGKKITIKVARNCIKITFD
19:7935405-7935405 G>A	0.0	3466	MELANOMA	-	-	-	-	PRR36	ENST00000539422,p.P909S	protein_coding, processed_transcript	ENST00000539422	nonsynonymous SNV	exon5	c.C2725T	p.P909S	APFSPPASPPVSPSATPPSQAPPSL	APFSPPASPPVSSSATPPSQAPPSL	1.0	7.0	unscreened	-	3466_19:7935405-7935405 G>A_APFSPPASPPVSSSATPPSQAPPSL
18:34647216-34647216 C>T	1.0	3466	MELANOMA	-	-	-	-	KIAA1328	ENST00000586135,p.R30C|ENST00000586501,p.R30C|ENST00000591619,p.R310C|uc002lab.3,p.R30C|NM_020776,p.R314C|uc002lac.1,p.R137C|uc002lad.3,p.R30C|ENST00000435985,p.R30C|uc002kzz.3,p.R314C|ENST00000543923,p.R206C|ENST00000280020,p.R314C	protein_coding, processed_transcript, nonsense_mediated_decay	uc002lad.3	nonsynonymous SNV	exon1	c.C88T	p.R30C	PSQCCGHRLAADRVHDSHPTNMTPQ	PSQCCGHRLAADCVHDSHPTNMTPQ	4.0	4.0	unscreened	-	3466_18:34647216-34647216 C>T_PSQCCGHRLAADCVHDSHPTNMTPQ
1:55130881-55130881 G>A	0.0	3466	MELANOMA	-	-	-	-	MROH7	uc010oog.1,p.E425K|ENST00000413188,p.E425K|ENST00000421030,p.E425K|ENST00000395690,p.E425K|ENST00000414150,p.E425K|ENST00000440047,p.E425K|NM_001039464,p.E425K|ENST00000425300,p.E450K|ENST00000422659,p.E425K|ENST00000339553,p.E425K|ENST00000606515,p.E425K|ENST00000438846,p.E425K|uc010ooe.1,p.E425K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010oog.1	nonsynonymous SNV	exon2	c.G1273A	p.E425K	FDEVTSCLVKVPEKTEGGNNMALVE	FDEVTSCLVKVPKKTEGGNNMALVE	3.0	3.0	unscreened	-	3466_1:55130881-55130881 G>A_FDEVTSCLVKVPKKTEGGNNMALVE
1:161029405-161029405 G>A	0.0	3466	MELANOMA	-	-	-	-	ARHGAP30	ENST00000368016,p.R67W|uc001fxl.3,p.R67W|NM_001025598,p.R67W|ENST00000368013,p.R67W|NM_181720,p.R67W|uc001fxk.3,p.R67W	retained_intron, protein_coding, nonsense_mediated_decay	uc001fxl.3	nonsynonymous SNV	exon2	c.C199T	p.R67W	RLSGVSSNIQKLRQEFESERKPDLR	RLSGVSSNIQKLWQEFESERKPDLR	5.0	7.0	unscreened	-	3466_1:161029405-161029405 G>A_RLSGVSSNIQKLWQEFESERKPDLR
11:124190083-124190083 G>A	0.0	3466	MELANOMA	-	-	-	-	OR8D2	NM_001002918,p.S4L|uc010sah.2,p.S4L|ENST00000357438,p.S4L	protein_coding	uc010sah.2	nonsynonymous SNV	exon1	c.C11T	p.S4L	MATSNHSSGAEFILAG	MATLNHSSGAEFILAG	1.0	5.0	unscreened	-	3466_11:124190083-124190083 G>A_MATLNHSSGAEFILAG
11:99786807-99786807 G>A	0.0	3466	MELANOMA	-	-	-	-	CNTN5	ENST00000527185,p.R200Q|NM_014361,p.R200Q|NM_001243271,p.R200Q|NM_001243270,p.R200Q|uc001pfz.3,p.R200Q|ENST00000279463,p.R200Q|uc009ywv.2,p.R200Q|NM_175566,p.R126Q|ENST00000528682,p.R200Q|uc001pga.3,p.R200Q|ENST00000418526,p.R126Q|uc021qpb.1,p.R200Q|uc021qpc.1,p.R126Q|ENST00000524871,p.R200Q	retained_intron, protein_coding, processed_transcript	uc021qpc.1	nonsynonymous SNV	exon4	c.G377A	p.R126Q	TLQFAYLGNFSGRTRSAVSVREGQG	TLQFAYLGNFSGQTRSAVSVREGQG	1.0	4.0	unscreened	-	3466_11:99786807-99786807 G>A_TLQFAYLGNFSGQTRSAVSVREGQG
3:46755957-46755957 G>A	0.0	3466	MELANOMA	-	-	-	-	PRSS50	uc003cqf.2,p.P83S|ENST00000315170,p.P169S|NM_013270,p.P169S|uc003cqe.1,p.P169S|ENST00000460241,p.P169S	protein_coding	uc003cqf.2	nonsynonymous SNV	exon6	c.C247T	p.P83S	WRDVIYSVRVGSPWIDQMTQTASDV	WRDVIYSVRVGSSWIDQMTQTASDV	1.0	6.0	unscreened	-	3466_3:46755957-46755957 G>A_WRDVIYSVRVGSSWIDQMTQTASDV
16:1263783-1263783 C>T	0.0	3466	MELANOMA	-	-	-	-	CACNA1H	uc002ckt.3,p.A1588V|ENST00000358590,p.A1588V|NM_001005407,p.A1588V|ENST00000565831,p.A1588V|uc002ckv.3,p.A294V	retained_intron, protein_coding	uc002ckv.3	nonsynonymous SNV	exon9	c.C881T	p.A294V	KRLRRLERRRRKAQRRPYYADYSPT	KRLRRLERRRRKVQRRPYYADYSPT	2.0	3.0	unscreened	-	3466_16:1263783-1263783 C>T_KRLRRLERRRRKVQRRPYYADYSPT
4:141315195-141315195 C>T	0.0	3466	MELANOMA	-	-	-	-	CLGN	ENST00000414773,p.G384R|uc011chi.2,p.G384R|NM_001130675,p.G384R|ENST00000537281,p.G384R|ENST00000325617,p.G384R|NM_004362,p.G384R|uc003iii.3,p.G384R	protein_coding	uc011chi.2	nonsynonymous SNV	exon12	c.G1150A	p.G384R	WRPPLVDNPNYQGIWSPRKIPNPDY	WRPPLVDNPNYQRIWSPRKIPNPDY	1.0	6.0	unscreened	-	3466_4:141315195-141315195 C>T_WRPPLVDNPNYQRIWSPRKIPNPDY
16:67029701-67029701 G>A	0.0	3466	MELANOMA	-	-	-	-	CES4A	uc002eqw.3,p.G37R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002eqw.3	nonsynonymous SNV	exon1	c.G109A	p.G37R	RFAPPEPPEPWKGIRDATTYPPGWS	RFAPPEPPEPWKRIRDATTYPPGWS	4.0	3.0	unscreened	-	3466_16:67029701-67029701 G>A_RFAPPEPPEPWKRIRDATTYPPGWS
16:67029701-67029701 G>A	0.0	3466	MELANOMA	-	-	-	-	CES4A	ENST00000540947,p.G77R|uc002eqv.3,p.G100R|ENST00000541479,p.G100R|uc010vix.2,p.G77R|ENST00000326686,p.G77R|ENST00000338718,p.G100R|ENST00000398354,p.G77R|ENST00000538199,p.G40R|NM_173815,p.G77R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vix.2	nonsynonymous SNV	exon2	c.G229A	p.G77R	RFAPPEPPEPWKGIRDATTYPPGCL	RFAPPEPPEPWKRIRDATTYPPGCL	4.0	3.0	unscreened	-	3466_16:67029701-67029701 G>A_RFAPPEPPEPWKRIRDATTYPPGCL
11:65618855-65618855 G>A	0.0	3466	MELANOMA	-	-	-	-	SNX32	NM_152760,p.E256K|ENST00000308342,p.E256K|uc001ofr.3,p.E256K	retained_intron, protein_coding, processed_transcript	uc001ofr.3	nonsynonymous SNV	exon8	c.G766A	p.E256K	PISAALSSLGTQEVNQLRTSFLKLA	PISAALSSLGTQKVNQLRTSFLKLA	2.0	6.0	unscreened	-	3466_11:65618855-65618855 G>A_PISAALSSLGTQKVNQLRTSFLKLA
12:12814367-12814367 C>T	0.0	3466	MELANOMA	-	-	-	-	GPR19	NM_006143,p.R339K|ENST00000332427,p.R339K|uc001rar.3,p.R339K|uc001raq.2,p.R339K|ENST00000540510,p.R339K|uc021qvj.1,p.R339K	protein_coding, processed_transcript	uc021qvj.1	nonsynonymous SNV	exon1	c.G1016A	p.R339K	PTLYSIYNANFRRGMKETFCMSSMK	PTLYSIYNANFRKGMKETFCMSSMK	2.0	4.0	unscreened	-	3466_12:12814367-12814367 C>T_PTLYSIYNANFRKGMKETFCMSSMK
11:30032434-30032434 G>A	0.0	3466	MELANOMA	-	-	ID=COSM261493;OCCURENCE=1(large_intestine)	-	KCNA4	uc021qfi.1,p.R598W|ENST00000328224,p.R598W|NM_002233,p.R598W|uc001msk.3,p.R598W	protein_coding, processed_transcript	uc021qfi.1	nonsynonymous SNV	exon1	c.C1792T	p.R598W	CPYLPSNLLKKFRSSTSSSLGDKSE	CPYLPSNLLKKFWSSTSSSLGDKSE	1.0	7.0	unscreened	-	3466_11:30032434-30032434 G>A_CPYLPSNLLKKFWSSTSSSLGDKSE
4:126372493-126372493 C>T	0.0	3466	MELANOMA	-	-	-	1	FAT4	NM_024582,p.S3441F|uc003ifi.1,p.S919F|ENST00000335110,p.S1739F|NM_001291285,p.S3443F|NM_001291303,p.S3443F|uc003ifj.4,p.S3441F|ENST00000394329,p.S3441F|uc011cgp.2,p.S1739F	retained_intron, protein_coding	uc011cgp.2	nonsynonymous SNV	exon9	c.C5216T	p.S1739F	FDSDSIPSWSRFSYFIGSGNENGAF	FDSDSIPSWSRFFYFIGSGNENGAF	2.0	4.0	unscreened	-	3466_4:126372493-126372493 C>T_FDSDSIPSWSRFFYFIGSGNENGAF
18:28574227-28574227 C>T	0.0	3466	MELANOMA	-	-	-	-	DSC3	NM_001941,p.E869K|ENST00000360428,p.E869K|uc002kwj.4,p.E869K	protein_coding	uc002kwj.4	nonsynonymous SNV	exon16	c.G2605A	p.E869K	RGSPAGSVGCCSEKQEEDGLDFLNN	RGSPAGSVGCCSKKQEEDGLDFLNN	1.0	3.0	unscreened	-	3466_18:28574227-28574227 C>T_RGSPAGSVGCCSKKQEEDGLDFLNN
10:98097961-98097961 C>T	0.0	3466	MELANOMA	-	-	-	-	DNTT	NM_004088,p.P504S|NM_001017520,p.P503S|ENST00000371174,p.P504S|ENST00000419175,p.P503S|uc001kmf.3,p.P504S|uc001kmg.3,p.P503S	protein_coding	uc001kmg.3	nonsynonymous SNV	exon11	c.C1507T	p.P503S	EIFAHLGLDYIEPWERNA	EIFAHLGLDYIESWERNA	1.0	4.0	unscreened	-	3466_10:98097961-98097961 C>T_EIFAHLGLDYIESWERNA
14:25043978-25043978 C>T	0.0	3466	MELANOMA	-	-	-	-	CTSG	NM_001911,p.R81K|uc001wpq.3,p.R81K|ENST00000216336,p.R81K	retained_intron, protein_coding	uc001wpq.3	nonsynonymous SNV	exon3	c.G242A	p.R81K	NINVTLGAHNIQRRENTQQHITARR	NINVTLGAHNIQKRENTQQHITARR	1.0	3.0	unscreened	-	3466_14:25043978-25043978 C>T_NINVTLGAHNIQKRENTQQHITARR
1:190067681-190067681 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1689440;OCCURENCE=1(skin)	-	BRINP3	uc001gse.1,p.E590K|ENST00000367462,p.E590K|uc010pot.1,p.E488K|ENST00000534846,p.E488K|NM_199051,p.E590K	protein_coding, processed_transcript	uc010pot.1	nonsynonymous SNV	exon7	c.G1462A	p.E488K	GSHSESWFMPVNENSFPDWERTKLD	GSHSESWFMPVNKNSFPDWERTKLD	1.0	3.0	unscreened	-	3466_1:190067681-190067681 C>T_GSHSESWFMPVNKNSFPDWERTKLD
19:3293437-3293437 C>T	0.0	3466	MELANOMA	-	-	-	-	CELF5	ENST00000292672,p.P484L|uc002lxm.3,p.P484L|NM_021938,p.P484L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lxm.3	nonsynonymous SNV	exon12	c.C1451T	p.P484L	KVQLKRPKDPGHPY	KVQLKRPKDPGHLY	1.0	6.0	unscreened	-	3466_19:3293437-3293437 C>T_KVQLKRPKDPGHLY
3:74411160-74411160 C>A	0.0	3466	MELANOMA	-	-	-	-	CNTN3	NM_020872,p.M415I|ENST00000263665,p.M415I|uc003dpm.1,p.M415I	protein_coding, processed_transcript	uc003dpm.1	nonsynonymous SNV	exon10	c.G1245T	p.M415I	VVASAPDFSKNPMKKLVQVQVGSLV	VVASAPDFSKNPIKKLVQVQVGSLV	1.0	4.0	unscreened	-	3466_3:74411160-74411160 C>A_VVASAPDFSKNPIKKLVQVQVGSLV
3:48606878-48606878 C>T	1.0	3466	MELANOMA	-	-	-	-	COL7A1	NM_000094,p.G2539D|ENST00000454817,p.G2507D|uc003ctz.2,p.G2539D|ENST00000328333,p.G2539D	retained_intron, protein_coding, processed_transcript	uc003ctz.2	nonsynonymous SNV	exon102	c.G7616A	p.G2539D	GPPGPRGAKGDMGERGPRGLDGDKG	GPPGPRGAKGDMDERGPRGLDGDKG	9.0	5.0	-	-	3466_3:48606878-48606878 C>T_GPPGPRGAKGDMDERGPRGLDGDKG
2:56570076-56570076 C>T	0.0	3466	MELANOMA	-	-	-	-	CCDC85A	uc002rzn.3,p.R435C|NM_001080433,p.R435C|ENST00000407595,p.R435C	protein_coding	uc002rzn.3	nonsynonymous SNV	exon3	c.C1303T	p.R435C	LEARVRQLEEENRMLPQASQNRRQP	LEARVRQLEEENCMLPQASQNRRQP	1.0	7.0	unscreened	-	3466_2:56570076-56570076 C>T_LEARVRQLEEENCMLPQASQNRRQP
16:88945830-88945830 C>T	0.0	3466	MELANOMA	-	-	-	1	CBFA2T3	uc002fml.2,p.E418K|ENST00000448839,p.E428K|NM_175931,p.E418K|ENST00000360302,p.E418K|uc002fmm.2,p.E504K|ENST00000268679,p.E504K|NM_005187,p.E504K|ENST00000327483,p.E418K|ENST00000436887,p.E466K	retained_intron, protein_coding, nonsense_mediated_decay	uc002fmm.2	nonsynonymous SNV	exon11	c.G1510A	p.E504K	EAVNEVKRQAMSELQKAVSDAERKA	EAVNEVKRQAMSKLQKAVSDAERKA	2.0	3.0	unscreened	-	3466_16:88945830-88945830 C>T_EAVNEVKRQAMSKLQKAVSDAERKA
15:23684973-23684973 T>G	0.0	3466	MELANOMA	-	-	-	-	GOLGA8S,MIR4508	ENST00000567107,p.E883D|ENST00000345070,p.E288D	protein_coding, nonsense_mediated_decay	ENST00000567107	nonsynonymous SNV	exon8	c.A2649C	p.E883D	DDAREGGEDTRSEREDAGEAARARG	DDAREGGEDTRSDREDAGEAARARG	1.0	3.0	unscreened	Snp within 36 nucleotides, 15:23684104-23684104 T->CAT, residue 1 G>D PR	3466_15:23684973-23684973 T>G_DDAREGGEDTRSDREDAGEAARARG
18:28934722-28934722 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1711119;OCCURENCE=1(skin)	-	DSG1	ENST00000462981,p.D214N|uc010xbp.2,p.D214N|uc002kwp.3,p.D855N|NM_001942,p.D855N|ENST00000257192,p.D855N	protein_coding	uc010xbp.2	nonsynonymous SNV	exon4	c.G640A	p.D214N	TSDTLKPSVHVHDNRPASNVVVTER	TSDTLKPSVHVHNNRPASNVVVTER	1.0	5.0	unscreened	-	3466_18:28934722-28934722 G>A_TSDTLKPSVHVHNNRPASNVVVTER
20:7886933-7886933 C>T	0.0	3466	MELANOMA	-	-	-	-	HAO1	NM_017545,p.E197K|ENST00000378789,p.E197K|uc002wmw.1,p.E197K|uc010gbu.3,p.E197K	protein_coding	uc010gbu.3	nonsynonymous SNV	exon4	c.G589A	p.E197K	NFETSTLSFSPEENFGDDSGLAAYV	NFETSTLSFSPEKNFGDDSGLAAYV	1.0	4.0	unscreened	-	3466_20:7886933-7886933 C>T_NFETSTLSFSPEKNFGDDSGLAAYV
3:180362000-180362000 C>T	0.0	3466	MELANOMA	-	-	-	-	CCDC39	ENST00000442201,p.E525K|ENST00000273654,p.E609K|ENST00000476379,p.E525K|NM_181426,p.E525K|uc010hxe.3,p.E525K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010hxe.3	nonsynonymous SNV	exon12	c.G1573A	p.E525K	YFIKKAHSKNSDEKQSLMTKINELN	YFIKKAHSKNSDKKQSLMTKINELN	1.0	5.0	unscreened	-	3466_3:180362000-180362000 C>T_YFIKKAHSKNSDKKQSLMTKINELN
19:49931980-49931980 C>T	0.0	3466	MELANOMA	-	-	-	-	GFY	uc021uxm.1,p.P488S|NM_001195256,p.P488S|ENST00000576655,p.P488S	protein_coding	uc021uxm.1	nonsynonymous SNV	exon3	c.C1462T	p.P488S	SHIATKQPPPTPPLPPKLPPPPRGG	SHIATKQPPPTPSLPPKLPPPPRGG	1.0	7.0	unscreened	-	3466_19:49931980-49931980 C>T_SHIATKQPPPTPSLPPKLPPPPRGG
10:124672288-124672288 G>A	0.0	3466	MELANOMA	-	-	-	-	FAM24A	ENST00000368894,p.D46N|uc001lgv.3,p.D46N|NM_001029888,p.D46N	protein_coding	uc001lgv.3	nonsynonymous SNV	exon3	c.G136A	p.D46N	YFKVAKALKAAKDPDAVAVKNHNPD	YFKVAKALKAAKNPDAVAVKNHNPD	1.0	5.0	unscreened	-	3466_10:124672288-124672288 G>A_YFKVAKALKAAKNPDAVAVKNHNPD
11:59604647-59604647 C>T	0.0	3466	MELANOMA	-	-	-	-	GIF	uc001noi.3,p.D291N|NM_005142,p.D291N|ENST00000541311,p.D266N|ENST00000257248,p.D291N	retained_intron, protein_coding, nonsense_mediated_decay	uc001noi.3	nonsynonymous SNV	exon6	c.G871A	p.D291N	TYLDVPQVTCSPDHEVQPTLPSNPG	TYLDVPQVTCSPNHEVQPTLPSNPG	1.0	4.0	unscreened	-	3466_11:59604647-59604647 C>T_TYLDVPQVTCSPNHEVQPTLPSNPG
16:23080158-23080158 G>A	1.0	3466	MELANOMA	-	-	-	-	USP31	NM_020718,p.P1090S|uc010vca.2,p.P393S|ENST00000567975,p.P383S|uc002dll.3,p.P1090S|uc002dlk.3,p.P362S|uc010bxm.3,p.P378S|ENST00000219689,p.P1090S	retained_intron, protein_coding	uc010vca.2	nonsynonymous SNV	exon3	c.C1177T	p.P393S	DSSSRGSGRHSSPAPAQPKKESSPK	DSSSRGSGRHSSSAPAQPKKESSPK	6.0	4.0	unscreened	-	3466_16:23080158-23080158 G>A_DSSSRGSGRHSSSAPAQPKKESSPK
1:173628530-173628530 C>T	0.0	3466	MELANOMA	-	-	-	-	ANKRD45	uc001gja.1,p.E10K|NM_198493,p.E10K|uc001gjb.4,p.E10K|ENST00000333279,p.E10K	retained_intron, protein_coding	uc001gjb.4	nonsynonymous SNV	exon2	c.G28A	p.E10K	MESEGPPESESSEFFSQQEEEN	MESEGPPESKSSEFFSQQEEEN	1.0	3.0	unscreened	-	3466_1:173628530-173628530 C>T_MESEGPPESKSSEFFSQQEEEN
3:36756926-36756926 C>T	0.0	3466	MELANOMA	-	-	-	-	DCLK3	ENST00000416516,p.E614K|uc003cgi.2,p.E614K|NM_033403,p.E614K	protein_coding, processed_transcript	uc003cgi.2	nonsynonymous SNV	exon5	c.G1840A	p.E614K	YTAHQVLQHPWIETAGKTNTVKRQK	YTAHQVLQHPWIKTAGKTNTVKRQK	2.0	5.0	unscreened	-	3466_3:36756926-36756926 C>T_YTAHQVLQHPWIKTAGKTNTVKRQK
12:8374798-8374798 C>T	0.0	3466	MELANOMA	-	-	ID=COSM136047;OCCURENCE=1(skin)	-	FAM90A1	ENST00000307435,p.E339K|NM_018088,p.E339K|uc001qui.2,p.E339K|uc001quh.2,p.E339K|ENST00000538603,p.E339K	protein_coding	uc001qui.2	nonsynonymous SNV	exon7	c.G1015A	p.E339K	APENLQPPPAATELGPRTSPQIGTR	APENLQPPPAATKLGPRTSPQIGTR	1.0	4.0	unscreened	Snp within 36 nucleotides, 12:8374770-8374770 T>G, residue 22 T>I PR	3466_12:8374798-8374798 C>T_APENLQPPPAATKLGPRTSPQIGTR
10:55663095-55663095 C>T	0.0	3466	MELANOMA	-	-	-	-	PCDH15	uc010qhz.1,p.E1137K|uc010qib.1,p.E1115K|NM_001142773,p.E1115K|uc021pqv.1,p.E1137K|ENST00000395445,p.E1144K|NM_001142765,p.E1066K|ENST00000409834,p.E748K|uc010qia.1,p.E1115K|NM_001142763,p.E1142K|ENST00000395438,p.E1137K|uc010qhr.2,p.E1137K|uc001jju.1,p.E1137K|NM_033056,p.E1137K|NM_001142767,p.E1100K|uc021pqy.1,p.E1137K|uc021pqw.1,p.E1149K|uc010qht.2,p.E1144K|ENST00000437009,p.E1066K|uc010qhy.1,p.E1142K|ENST00000395430,p.E1137K|ENST00000395432,p.E1100K|ENST00000373965,p.E1144K|uc010qhx.1,p.E1066K|uc010qhw.1,p.E1100K|ENST00000414778,p.E1142K|ENST00000395433,p.E1115K|ENST00000361849,p.E1137K|uc010qhq.2,p.E1142K|ENST00000320301,p.E1137K|NM_001142768,p.E1115K|uc021pqz.1,p.E1115K|NM_001142766,p.E1137K|uc010qhv.1,p.E1137K|uc021pqx.1,p.E1137K|NM_001142764,p.E1137K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqz.1	nonsynonymous SNV	exon24	c.G3343A	p.E1115K	SNTAKVYIEIQDENNHPPVFQKKFY	SNTAKVYIEIQDKNNHPPVFQKKFY	1.0	4.0	unscreened	-	3466_10:55663095-55663095 C>T_SNTAKVYIEIQDKNNHPPVFQKKFY
19:9090590-9090590 G>A	0.0	3466	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.P409S|ENST00000397910,p.P409S|NM_024690,p.P409S	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.C1225T	p.P409S	GGTSTSALTTTSPSTTLVSEETNTH	GGTSTSALTTTSSSTTLVSEETNTH	1.0	6.0	unscreened	-	3466_19:9090590-9090590 G>A_GGTSTSALTTTSSSTTLVSEETNTH
10:125558644-125558644 C>T	0.0	3466	MELANOMA	-	-	-	-	CPXM2	ENST00000241305,p.G242E|uc001lhk.1,p.G242E|NM_198148,p.G242E	protein_coding, processed_transcript	uc001lhk.1	nonsynonymous SNV	exon5	c.G725A	p.G242E	SNDSHTWVTVKNGSGDMIFEGNSEK	SNDSHTWVTVKNESGDMIFEGNSEK	2.0	5.0	unscreened	-	3466_10:125558644-125558644 C>T_SNDSHTWVTVKNESGDMIFEGNSEK
18:334973-334973 G>A	0.0	3466	MELANOMA	-	-	-	-	COLEC12	uc002kkm.3,p.P529S|NM_130386,p.P529S	retained_intron, protein_coding	uc002kkm.3	nonsynonymous SNV	exon6	c.C1585T	p.P529S	PGPQGPSGDPGPPGPPGKEGLPGPQ	PGPQGPSGDPGPSGPPGKEGLPGPQ	9.0	4.0	unscreened	-	3466_18:334973-334973 G>A_PGPQGPSGDPGPSGPPGKEGLPGPQ
18:334973-334973 G>A	0.0	3466	MELANOMA	-	-	-	-	COLEC12	ENST00000400256,p.P529S	retained_intron, protein_coding	ENST00000400256	nonsynonymous SNV	exon6	c.C1585T	p.P529S	PGPQGSSGDPGPPGPPGKEGLPGPQ	PGPQGSSGDPGPSGPPGKEGLPGPQ	9.0	4.0	unscreened	-	3466_18:334973-334973 G>A_PGPQGSSGDPGPSGPPGKEGLPGPQ
2:79253955-79253955 G>A	0.0	3466	MELANOMA	-	-	-	-	REG3G	NM_001008387,p.D65N|uc002snw.4,p.D65N|ENST00000272324,p.D65N|ENST00000393897,p.D65N|uc002snx.4,p.D65N|NM_198448,p.D65N	retained_intron, protein_coding	uc002snx.4	nonsynonymous SNV	exon3	c.G193A	p.D65N	ALFLSPKSWMDADLACQKRPSGKLV	ALFLSPKSWMDANLACQKRPSGKLV	1.0	7.0	unscreened	-	3466_2:79253955-79253955 G>A_ALFLSPKSWMDANLACQKRPSGKLV
1:176659561-176659561 A>G	0.0	3466	MELANOMA	-	-	-	-	PAPPA2	NM_020318,p.Y809C|ENST00000367662,p.Y809C|uc001gkz.3,p.Y809C	protein_coding, processed_transcript	uc001gkz.3	nonsynonymous SNV	exon5	c.A2426G	p.Y809C	RFPGAPFTNYMSYTDDNCTDNFTPN	RFPGAPFTNYMSCTDDNCTDNFTPN	1.0	3.0	unscreened	-	3466_1:176659561-176659561 A>G_RFPGAPFTNYMSCTDDNCTDNFTPN
2:166900378-166900378 C>T	0.0	3466	MELANOMA	-	-	ID=COSM3736534,COSM3736533,COSM3736532;OCCURENCE=1(skin)	-	SCN1A	uc002udo.4,p.G615E|ENST00000303395,p.G615E|NM_001202435,p.G615E|NM_006920,p.G615E|NM_001165964,p.G615E|ENST00000423058,p.G615E|ENST00000375405,p.G615E|NM_001165963,p.G615E|uc010fpk.3,p.G615E|uc021vsb.1,p.G615E|ENST00000409050,p.G615E	retained_intron, protein_coding	uc021vsb.1	nonsynonymous SNV	exon11	c.G1844A	p.G615E	SRRDSLFVPRRHGERRNSNLSQTSR	SRRDSLFVPRRHEERRNSNLSQTSR	1.0	3.0	unscreened	-	3466_2:166900378-166900378 C>T_SRRDSLFVPRRHEERRNSNLSQTSR
1:158627428-158627428 C>T	0.0	3466	MELANOMA	-	-	-	-	SPTA1	ENST00000368148,p.E882K|NM_003126,p.E882K|ENST00000368147,p.E882K|uc001fst.1,p.E882K	protein_coding, processed_transcript	uc001fst.1	nonsynonymous SNV	exon19	c.G2644A	p.E882K	VASRVKSLNQNMESLRARAARRQND	VASRVKSLNQNMKSLRARAARRQND	4.0	3.0	unscreened	-	3466_1:158627428-158627428 C>T_VASRVKSLNQNMKSLRARAARRQND
1:222696013-222696013 C>T	0.0	3466	MELANOMA	-	-	-	-	HHIPL2	uc001hnh.1,p.S702N|ENST00000343410,p.S702N|NM_024746,p.S702N	protein_coding, processed_transcript	uc001hnh.1	nonsynonymous SNV	exon9	c.G2105A	p.S702N	VGPHVRQGKRRKSLKSHSGRMRPSA	VGPHVRQGKRRKNLKSHSGRMRPSA	1.0	7.0	unscreened	-	3466_1:222696013-222696013 C>T_VGPHVRQGKRRKNLKSHSGRMRPSA
3:19961393-19961393 C>T	0.0	3466	MELANOMA	-	-	-	-	EFHB	ENST00000295824,p.G310R|uc003cbl.4,p.G310R|ENST00000344838,p.G180R|ENST00000440022,p.G47R|uc003cbm.3,p.G180R|NM_144715,p.G310R|ENST00000389256,p.G310R	protein_coding, processed_transcript	uc003cbm.3	nonsynonymous SNV	exon5	c.G538A	p.G180R	RYPPAGVERVFYGRANDPQIAPYLT	RYPPAGVERVFYRRANDPQIAPYLT	1.0	6.0	unscreened	-	3466_3:19961393-19961393 C>T_RYPPAGVERVFYRRANDPQIAPYLT
1:57258373-57258373 C>T	0.0	3466	MELANOMA	-	-	-	-	C1orf168	ENST00000343433,p.G38D|uc009vzv.1,p.G38D|uc001cym.4,p.G38D|NM_001004303,p.G38D	retained_intron, protein_coding, processed_transcript	uc009vzv.1	nonsynonymous SNV	exon2	c.G113A	p.G38D	GPIKFPAGVSPKGDIGGTQSTQILA	GPIKFPAGVSPKDDIGGTQSTQILA	1.0	3.0	unscreened	-	3466_1:57258373-57258373 C>T_GPIKFPAGVSPKDDIGGTQSTQILA
15:89753635-89753635 C>T	0.0	3466	MELANOMA	-	-	-	-	RLBP1	NM_000326,p.E279K|ENST00000268125,p.E279K|uc002bnl.3,p.E279K	retained_intron, protein_coding, nonsense_mediated_decay	uc002bnl.3	nonsynonymous SNV	exon9	c.G835A	p.E279K	FVHGDDLSGFYQEIDENILPSDFGG	FVHGDDLSGFYQKIDENILPSDFGG	1.0	5.0	unscreened	-	3466_15:89753635-89753635 C>T_FVHGDDLSGFYQKIDENILPSDFGG
19:4234675-4234675 C>T	0.0	3466	MELANOMA	-	-	-	-	EBI3	uc002lzu.3,p.P131S|NM_005755,p.P131S|ENST00000221847,p.P131S	retained_intron, protein_coding	uc002lzu.3	nonsynonymous SNV	exon4	c.C391T	p.P131S	VPFITEHIIKPDPPEGVRLSPLAER	VPFITEHIIKPDSPEGVRLSPLAER	3.0	6.0	unscreened	-	3466_19:4234675-4234675 C>T_VPFITEHIIKPDSPEGVRLSPLAER
3:167293764-167293764 C>T	0.0	3466	MELANOMA	-	-	-	-	WDR49	NM_178824,p.R143K|uc003fev.1,p.R143K|ENST00000308378,p.R143K|uc003few.1,p.R484K|ENST00000453925,p.R196K|ENST00000479765,p.R484K|uc011bpd.1,p.R196K	protein_coding, nonsense_mediated_decay	uc011bpd.1	nonsynonymous SNV	exon4	c.G587A	p.R196K	LALLAMKSEASKRVKSHEKAVTCVL	LALLAMKSEASKKVKSHEKAVTCVL	1.0	4.0	unscreened	-	3466_3:167293764-167293764 C>T_LALLAMKSEASKKVKSHEKAVTCVL
4:144545366-144545366 C>T	0.0	3466	MELANOMA	-	-	-	-	FREM3	uc021xsj.1,p.E1850K|ENST00000329798,p.E1850K|NM_001168235,p.E1850K	protein_coding, processed_transcript	uc021xsj.1	nonsynonymous SNV	exon4	c.G5548A	p.E1850K	TATWRVRIIPDNEYETSETFQIILS	TATWRVRIIPDNKYETSETFQIILS	1.0	5.0	unscreened	-	3466_4:144545366-144545366 C>T_TATWRVRIIPDNKYETSETFQIILS
1:182500037-182500037 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1689375,COSM1689374;OCCURENCE=1(skin)	-	RGSL1	NM_001137669,p.E786K|ENST00000443996,p.E821K|ENST00000542961,p.E821K|ENST00000294854,p.E786K|uc009wxw.3,p.E786K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009wxw.3	nonsynonymous SNV	exon13	c.G2356A	p.E786K	RKPSKIVSTYLQESQKKGWMRMISF	RKPSKIVSTYLQKSQKKGWMRMISF	1.0	8.0	unscreened	-	3466_1:182500037-182500037 G>A_RKPSKIVSTYLQKSQKKGWMRMISF
3:35723283-35723283 G>A	0.0	3466	MELANOMA	-	-	-	-	ARPP21	ENST00000417925,p.E14K|ENST00000438577,p.E14K|NM_198399,p.E14K|NM_001267616,p.E14K|ENST00000452563,p.E14K|ENST00000428373,p.E14K|uc011axx.3,p.E14K|ENST00000187397,p.E14K|ENST00000444190,p.E14K|uc003cga.3,p.E14K|NM_001267618,p.E14K|ENST00000421492,p.E14K|ENST00000474696,p.E14K|uc011axy.2,p.E14K|ENST00000396481,p.E14K|ENST00000441454,p.E14K|ENST00000413378,p.E14K|ENST00000396482,p.E14K|uc003cge.3,p.E14K|uc003cgb.3,p.E14K|ENST00000427542,p.E14K|ENST00000432450,p.E14K|ENST00000419330,p.E14K|ENST00000412048,p.E14K|ENST00000458225,p.E14K|ENST00000414496,p.E14K|uc003cgc.3,p.E14K|ENST00000438071,p.E14K|ENST00000432682,p.E14K|NM_001267619,p.E14K|NM_001025069,p.E14K|NM_016300,p.E14K|ENST00000337271,p.E14K|ENST00000450234,p.E14K|ENST00000449196,p.E14K|NM_001267617,p.E14K|NM_001025068,p.E14K|uc003cfz.4,p.E14K|ENST00000436702,p.E14K|uc003cgd.3,p.E14K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011axy.2	nonsynonymous SNV	exon2	c.G40A	p.E14K	SEQGDLNQAIAEEGGTEQETATPEN	SEQGDLNQAIAEKGGTEQETATPEN	3.0	7.0	unscreened	-	3466_3:35723283-35723283 G>A_SEQGDLNQAIAEKGGTEQETATPEN
10:105807844-105807844 C>T	0.0	3466	MELANOMA	-	-	-	-	COL17A1	ENST00000369733,p.G749E|NM_000494,p.G749E|uc001kxr.3,p.G749E|ENST00000353479,p.G749E	retained_intron, protein_coding, processed_transcript	uc001kxr.3	nonsynonymous SNV	exon30	c.G2246A	p.G749E	GAKGAMGPAGPDGHQGPRGEQGLTG	GAKGAMGPAGPDEHQGPRGEQGLTG	1.0	4.0	unscreened	-	3466_10:105807844-105807844 C>T_GAKGAMGPAGPDEHQGPRGEQGLTG
3:64526872-64526872 C>T	1.0	3466	MELANOMA	-	-	-	-	ADAMTS9	ENST00000295903,p.G1779E|uc011bfo.2,p.G1779E|ENST00000498707,p.G1807E|uc011bfp.1,p.G718E|uc003dmg.3,p.G1807E|NM_182920,p.G1807E	retained_intron, protein_coding, processed_transcript	uc011bfp.1	nonsynonymous SNV	exon17	c.G2153A	p.G718E	HRLHNPTECPYNGSRRDDCQCRKDY	HRLHNPTECPYNESRRDDCQCRKDY	9.0	6.0	unscreened	-	3466_3:64526872-64526872 C>T_HRLHNPTECPYNESRRDDCQCRKDY
4:71114907-71114907 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1694481;OCCURENCE=2(skin)	-	CSN3	uc003hfe.4,p.P94S|ENST00000304954,p.P94S|NM_005212,p.P94S	protein_coding	uc003hfe.4	nonsynonymous SNV	exon4	c.C280T	p.P94S	ANPAVVRPHAQIPQRQYLPNSHPPT	ANPAVVRPHAQISQRQYLPNSHPPT	1.0	5.0	unscreened	-	3466_4:71114907-71114907 C>T_ANPAVVRPHAQISQRQYLPNSHPPT
3:136728968-136728968 C>T	0.0	3466	MELANOMA	-	-	-	-	IL20RB	uc010hud.2,p.S138L|uc003eri.2,p.S280L|NM_144717,p.S280L|ENST00000329582,p.S280L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010hud.2	nonsynonymous SNV	exon7	c.C413T	p.S138L	VVVLPDTLKITNSPQKLISCRREEV	VVVLPDTLKITNLPQKLISCRREEV	2.0	4.0	unscreened	-	3466_3:136728968-136728968 C>T_VVVLPDTLKITNLPQKLISCRREEV
11:55607147-55607147 T>A	0.0	3466	MELANOMA	-	-	-	-	OR5D16	ENST00000378396,p.I307N|NM_001005496,p.I307N|uc010rio.2,p.I307N	protein_coding	uc010rio.2	nonsynonymous SNV	exon1	c.T920A	p.I307N	RNKDVKDAIRKIINTKYFHIKHRHW	RNKDVKDAIRKINNTKYFHIKHRHW	1.0	5.0	unscreened	-	3466_11:55607147-55607147 T>A_RNKDVKDAIRKINNTKYFHIKHRHW
3:11059012-11059012 G>A	0.0	3466	MELANOMA	-	-	-	-	SLC6A1	ENST00000287766,p.A39T|NM_003042,p.A39T|uc010hdq.3,p.A39T	retained_intron, protein_coding, processed_transcript	uc010hdq.3	nonsynonymous SNV	exon3	c.G115A	p.A39T	PKTLVVKVQKKAADLPDRDTWKGRF	PKTLVVKVQKKATDLPDRDTWKGRF	2.0	7.0	unscreened	-	3466_3:11059012-11059012 G>A_PKTLVVKVQKKATDLPDRDTWKGRF
1:201170922-201170922 G>A	0.0	3466	MELANOMA	-	-	-	-	IGFN1	uc001gwc.3,p.D237N|NM_001164586,p.D237N|ENST00000451870,p.D237N|ENST00000335211,p.D237N|ENST00000437879,p.D237N	retained_intron, protein_coding, nonsense_mediated_decay	uc001gwc.3	nonsynonymous SNV	exon9	c.G709A	p.D237N	TKDGNAKFDLELDLKDSQSKIYLYK	TKDGNAKFDLELNLKDSQSKIYLYK	3.0	6.0	-	-	3466_1:201170922-201170922 G>A_TKDGNAKFDLELNLKDSQSKIYLYK
22:36587338-36587338 G>A	0.0	3466	MELANOMA	-	-	-	-	APOL4	ENST00000352371,p.P280S|ENST00000332987,p.P277S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000352371	nonsynonymous SNV	exon6	c.C838T	p.P280S	INVVETLRTRGAPTRIVRKVARNLG	INVVETLRTRGASTRIVRKVARNLG	5.0	4.0	unscreened	-	3466_22:36587338-36587338 G>A_INVVETLRTRGASTRIVRKVARNLG
3:46450576-46450576 G>A	0.0	3466	MELANOMA	-	-	-	-	CCRL2	ENST00000400882,p.E336K|ENST00000357392,p.E348K|uc010hjf.3,p.E336K|NM_003965,p.E336K|NM_001130910,p.E348K|ENST00000399036,p.E336K|uc003cpp.4,p.E336K|ENST00000400880,p.E336K|uc010hjg.3,p.E348K|uc021wxc.1,p.E336K	protein_coding, processed_transcript	uc021wxc.1	nonsynonymous SNV	exon1	c.G1006A	p.E336K	QPRGQSAQGTSREEPDHSTEV	QPRGQSAQGTSRKEPDHSTEV	4.0	3.0	unscreened	-	3466_3:46450576-46450576 G>A_QPRGQSAQGTSRKEPDHSTEV
15:41803695-41803695 G>A	0.0	3466	MELANOMA	-	-	-	-	LTK	NM_001135685,p.R247W|NM_206961,p.R247W|ENST00000263800,p.R247W|NM_002344,p.R247W|uc001zoa.3,p.R247W|uc001zob.3,p.R247W|ENST00000453182,p.R247W|uc010ucx.1,p.R247W|ENST00000355166,p.R247W	retained_intron, protein_coding	uc010ucx.1	nonsynonymous SNV	exon6	c.C739T	p.R247W	GGRAYLRPRDRGRTQASPEKLENRS	GGRAYLRPRDRGWTQASPEKLENRS	2.0	7.0	unscreened	-	3466_15:41803695-41803695 G>A_GGRAYLRPRDRGWTQASPEKLENRS
4:119154221-119154221 C>A	0.0	3466	MELANOMA	-	-	-	-	NDST3	NM_004784,p.S625Y|uc003ibx.3,p.S625Y|ENST00000296499,p.S625Y	retained_intron, protein_coding	uc003ibx.3	nonsynonymous SNV	exon9	c.C1874A	p.S625Y	LFLVMHPSILSNSPSPKTFEEVQFF	LFLVMHPSILSNYPSPKTFEEVQFF	1.0	4.0	unscreened	-	3466_4:119154221-119154221 C>A_LFLVMHPSILSNYPSPKTFEEVQFF
10:26856301-26856301 G>T	0.0	3466	MELANOMA	-	-	-	-	APBB1IP	NM_019043,p.V629L|uc001iss.3,p.V629L|ENST00000376236,p.V629L	protein_coding, processed_transcript, nonsense_mediated_decay	uc001iss.3	nonsynonymous SNV	exon15	c.G1885T	p.V629L	ARPPPAVAKRPPVPPKRQENPGHPG	ARPPPAVAKRPPLPPKRQENPGHPG	7.0	4.0	unscreened	-	3466_10:26856301-26856301 G>T_ARPPPAVAKRPPLPPKRQENPGHPG
19:9086857-9086857 C>T	0.0	3466	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.G1653E|NM_024690,p.G1653E|ENST00000397910,p.G1653E	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.G4958A	p.G1653E	SGVTLGIAHLPIGTSSPAETSTNMA	SGVTLGIAHLPIETSSPAETSTNMA	1.0	7.0	unscreened	-	3466_19:9086857-9086857 C>T_SGVTLGIAHLPIETSSPAETSTNMA
4:159568248-159568248 G>A	0.0	3466	MELANOMA	-	-	-	-	RXFP1	ENST00000307765,p.E551K|uc011cjd.2,p.E470K|NM_001253730,p.E420K|ENST00000460056,p.E470K|NM_001253733,p.E395K|ENST00000343542,p.E503K|NM_001253727,p.E578K|ENST00000448688,p.E446K|NM_001253728,p.E518K|uc010iqn.3,p.E496K|uc011cjf.2,p.E420K|uc011cjb.2,p.E449K|uc010iql.3,p.E395K|NM_001253729,p.E503K|NM_001253732,p.E419K|uc011cja.2,p.E446K|uc010iqo.3,p.E503K|NM_021634,p.E551K|uc003ipz.3,p.E551K|ENST00000470033,p.E518K|uc010iqk.3,p.E419K|uc011cje.2,p.E578K|uc011cjc.2,p.E470K|uc010iqm.3,p.E518K	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cjf.2	nonsynonymous SNV	exon15	c.G1258A	p.E420K	GFIVAFIPLSNKEFFKNYYGTNGVC	GFIVAFIPLSNKKFFKNYYGTNGVC	1.0	4.0	unscreened	-	3466_4:159568248-159568248 G>A_GFIVAFIPLSNKKFFKNYYGTNGVC
20:23064978-23064978 C>T	0.0	3466	MELANOMA	-	-	-	-	CD93	NM_012072,p.E618K|ENST00000246006,p.E618K|uc002wsv.3,p.E618K	protein_coding	uc002wsv.3	nonsynonymous SNV	exon1	c.G1852A	p.E618K	YRKRRAKREEKKEKKPQNAADSYSW	YRKRRAKREEKKKKKPQNAADSYSW	7.0	5.0	unscreened	-	3466_20:23064978-23064978 C>T_YRKRRAKREEKKKKKPQNAADSYSW
11:55578952-55578952 G>A	0.0	3466	MELANOMA	-	-	ID=COSM106828;OCCURENCE=3(skin)	-	OR5L1	NM_001004738,p.E4K|ENST00000333973,p.E4K|uc001nhw.1,p.E4K	protein_coding	uc001nhw.1	nonsynonymous SNV	exon1	c.G10A	p.E4K	MGKENCTTVAEFILLG	MGKKNCTTVAEFILLG	1.0	4.0	unscreened	-	3466_11:55578952-55578952 G>A_MGKKNCTTVAEFILLG
19:51918242-51918242 T>G	0.0	3466	MELANOMA	-	-	-	-	SIGLEC10	NM_033130,p.E484A|uc002pwo.3,p.E484A|ENST00000439889,p.E426A|ENST00000356298,p.E484A|NM_001171156,p.E426A|ENST00000339313,p.E484A|uc002pwp.3,p.E426A	retained_intron, protein_coding	uc002pwp.3	nonsynonymous SNV	exon8	c.A1277C	p.E426A	PSLRWWLGEELLEGNSSQDSFEVTP	PSLRWWLGEELLAGNSSQDSFEVTP	6.0	7.0	unscreened	-	3466_19:51918242-51918242 T>G_PSLRWWLGEELLAGNSSQDSFEVTP
3:151155129-151155129 C>T	0.0	3466	MELANOMA	-	-	-	-	IGSF10	NM_178822,p.G2407E|uc011boc.2,p.G386E|ENST00000282466,p.G2407E|uc011bob.2,p.G434E|uc011bod.2,p.G2407E|NM_001178146,p.G386E|NM_001178145,p.G434E	protein_coding, processed_transcript	uc011bod.2	nonsynonymous SNV	exon6	c.G7220A	p.G2407E	SFIISKTTREDAGKYRCAARNKVGY	SFIISKTTREDAEKYRCAARNKVGY	2.0	5.0	unscreened	-	3466_3:151155129-151155129 C>T_SFIISKTTREDAEKYRCAARNKVGY
3:97331228-97331228 C>T	0.0	3466	MELANOMA	-	-	-	-	EPHA6	uc011bgp.2,p.P227S|ENST00000508345,p.P227S|ENST00000442602,p.P227S	protein_coding, nonsense_mediated_decay	uc011bgp.2	nonsynonymous SNV	exon10	c.C679T	p.P227S	ENGSLDSFLRLYPKAEYNGKQCSRY	ENGSLDSFLRLYSKAEYNGKQCSRY	1.0	3.0	unscreened	-	3466_3:97331228-97331228 C>T_ENGSLDSFLRLYSKAEYNGKQCSRY
2:98928365-98928365 G>A	0.0	3466	MELANOMA	-	-	-	-	VWA3B	NM_144992,p.R1202Q|uc002syr.1,p.R519Q|uc002syq.1,p.R478Q|uc002syp.1,p.R594Q|ENST00000477737,p.R1202Q|uc010yvi.1,p.R859Q|uc002syo.3,p.R1202Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yvi.1	nonsynonymous SNV	exon21	c.G2576A	p.R859Q	KEADTQDSREPRREKPRRKKRPAKQ	KEADTQDSREPRQEKPRRKKRPAKQ	1.0	3.0	unscreened	-	3466_2:98928365-98928365 G>A_KEADTQDSREPRQEKPRRKKRPAKQ
10:96541612-96541612 T>A	0.0	3466	MELANOMA	-	-	-	-	CYP2C19	uc009xus.1,p.F91Y|NM_000769,p.F226Y|uc010qnz.2,p.F226Y|ENST00000371321,p.F226Y|uc010qny.2,p.F204Y	protein_coding, processed_transcript	uc010qnz.2	nonsynonymous SNV	exon5	c.T677A	p.F226Y	QICNNFPTIIDYFPGTHNKLLKNLA	QICNNFPTIIDYYPGTHNKLLKNLA	1.0	4.0	unscreened	-	3466_10:96541612-96541612 T>A_QICNNFPTIIDYYPGTHNKLLKNLA
4:119154221-119154221 C>A	0.0	3466	MELANOMA	-	-	-	-	NDST3	ENST00000433996,p.S544Y|uc011cgf.1,p.S544Y	retained_intron, protein_coding	uc011cgf.1	nonsynonymous SNV	exon7	c.C1631A	p.S544Y	LFLVMHPSILSNSPSPKTFEEVYGF	LFLVMHPSILSNYPSPKTFEEVYGF	1.0	4.0	unscreened	-	3466_4:119154221-119154221 C>A_LFLVMHPSILSNYPSPKTFEEVYGF
18:61306882-61306882 A>C	0.0	3466	MELANOMA	-	-	-	-	SERPINB4	NM_175041,p.F200V|uc002lje.3,p.F200V	retained_intron, protein_coding	uc002lje.3	nonsynonymous SNV	exon5	c.T598G	p.F200V	NKFKKENTKEEKFWPNKDVQAKVLE	NKFKKENTKEEKVWPNKDVQAKVLE	1.0	5.0	unscreened	-	3466_18:61306882-61306882 A>C_NKFKKENTKEEKVWPNKDVQAKVLE
20:51871529-51871529 A>G	0.0	3466	MELANOMA	-	-	-	-	TSHZ2	uc021wex.1,p.K508R|ENST00000371497,p.K511R|NM_173485,p.K511R|ENST00000603338,p.K508R|NM_001193421,p.K508R|ENST00000329613,p.K508R|uc002xwo.3,p.K511R	protein_coding, processed_transcript	uc021wex.1	nonsynonymous SNV	exon2	c.A1523G	p.K508R	QYLREEDLEDGSKGGGDILKSLENT	QYLREEDLEDGSRGGGDILKSLENT	5.0	6.0	unscreened	-	3466_20:51871529-51871529 A>G_QYLREEDLEDGSRGGGDILKSLENT
2:71838387-71838387 G>A	0.0	3466	MELANOMA	-	-	-	-	DYSF	uc010yqz.2,p.D46N|NM_001130976,p.D1292N|uc010fef.3,p.D1323N|uc010fem.3,p.D1307N|NM_001130983,p.D1307N|uc010fel.3,p.D1293N|uc002sie.3,p.D1306N|NM_001130987,p.D1324N|uc010fee.3,p.D1306N|uc002sig.4,p.D1292N|uc010fej.3,p.D1293N|uc002sif.3,p.D1307N|NM_001130984,p.D1293N|NM_001130979,p.D1337N|ENST00000410041,p.D1324N|uc010feo.3,p.D1338N|uc010fei.3,p.D1323N|ENST00000258104,p.D1306N|ENST00000394120,p.D1307N|NM_001130980,p.D1323N|uc010fen.3,p.D1324N|NM_001130982,p.D1338N|ENST00000429174,p.D1306N|ENST00000409366,p.D1307N|NM_001130977,p.D1292N|NM_001130978,p.D1306N|ENST00000409744,p.D1293N|ENST00000409651,p.D1338N|ENST00000409582,p.D1323N|NM_001130986,p.D1293N|NM_001130985,p.D1324N|ENST00000413539,p.D1337N|uc010feh.3,p.D1292N|NM_001130455,p.D1307N|uc010fek.3,p.D1324N|uc010feg.3,p.D1337N|uc010yqy.2,p.D187N|NM_003494,p.D1306N|ENST00000410020,p.D1324N|ENST00000409762,p.D1323N|NM_001130981,p.D1323N	protein_coding, processed_transcript	uc010yqz.2	nonsynonymous SNV	exon3	c.G136A	p.D46N	ETSRILDESEDTDLPYPPPQREANI	ETSRILDESEDTNLPYPPPQREANI	4.0	6.0	unscreened	-	3466_2:71838387-71838387 G>A_ETSRILDESEDTNLPYPPPQREANI
22:40356063-40356063 T>A	0.0	3466	MELANOMA	-	-	-	-	GRAP2	uc011aoq.2,p.V2D|ENST00000399090,p.V2D|NM_001291828,p.V2D	retained_intron, protein_coding, processed_transcript	uc011aoq.2	nonsynonymous SNV	exon2	c.T5A	p.V2D	MVSRRPLSTPGREL	MDSRRPLSTPGREL	4.0	3.0	unscreened	-	3466_22:40356063-40356063 T>A_MDSRRPLSTPGREL
19:7680416-7680416 G>A	0.0	3466	MELANOMA	-	-	-	-	CAMSAP3	ENST00000160298,p.G975R|NM_020902,p.G975R|uc002mgu.4,p.G1002R|NM_001080429,p.G1002R|ENST00000446248,p.G1002R|uc002mgw.3,p.G105R|uc002mgv.4,p.G975R	retained_intron, protein_coding	uc002mgw.3	nonsynonymous SNV	exon2	c.G313A	p.G105R	RAPAEEEVGPRKGDFTRQEYERRAQ	RAPAEEEVGPRKRDFTRQEYERRAQ	1.0	4.0	unscreened	-	3466_19:7680416-7680416 G>A_RAPAEEEVGPRKRDFTRQEYERRAQ
19:17758109-17758109 C>T	0.0	3466	MELANOMA	-	-	-	-	UNC13A	uc031rjw.1,p.G670D|ENST00000428389,p.G758D|ENST00000551649,p.G670D|ENST00000252773,p.G670D|ENST00000519716,p.G670D|ENST00000552293,p.G670D|NM_001080421,p.G670D|ENST00000550896,p.G668D	retained_intron, protein_coding	uc031rjw.1	nonsynonymous SNV	exon17	c.G2009A	p.G670D	QQMKAVKQSVLDGTSKWSAKISITV	QQMKAVKQSVLDDTSKWSAKISITV	1.0	6.0	unscreened	-	3466_19:17758109-17758109 C>T_QQMKAVKQSVLDDTSKWSAKISITV
1:203740596-203740596 G>A	0.0	3466	MELANOMA	-	-	-	-	LAX1	uc001hab.3,p.E25K|uc010pql.2,p.E85K|NM_001282878,p.E25K|NM_017773,p.E101K|ENST00000442561,p.E101K|ENST00000367217,p.E85K|NM_001136190,p.E85K|uc001haa.3,p.E101K	protein_coding, processed_transcript	uc010pql.2	nonsynonymous SNV	exon3	c.G253A	p.E85K	AKNIYDILPWRQEDLGRHESRSMRI	AKNIYDILPWRQKDLGRHESRSMRI	3.0	7.0	unscreened	-	3466_1:203740596-203740596 G>A_AKNIYDILPWRQKDLGRHESRSMRI
8:7308421-7308421 C>T	0.0	3466	MELANOMA	-	-	-	-	SPAG11B	NM_016512,p.G98R|ENST00000528168,p.G45R|ENST00000297498,p.G98R|uc003wri.3,p.G45R|uc003wrk.3,p.G98R|NM_058206,p.G45R	protein_coding, nonsense_mediated_decay	uc003wrk.3	nonsynonymous SNV	exon4	c.G292A	p.G98R	ICVDFLGPRWARGCSTGN	ICVDFLGPRWARRCSTGN	1.0	7.0	unscreened	-	3466_8:7308421-7308421 C>T_ICVDFLGPRWARRCSTGN
20:43851630-43851630 C>T	0.0	3466	MELANOMA	-	-	-	-	SEMG2	NM_003008,p.P453S|uc002xnk.3,p.P453S|uc010ggz.3,p.P453S|ENST00000372769,p.P453S	protein_coding	uc010ggz.3	nonsynonymous SNV	exon2	c.C1357T	p.P453S	KIHGKSQNQVTIPSQDQEHGHKENK	KIHGKSQNQVTISSQDQEHGHKENK	1.0	3.0	unscreened	-	3466_20:43851630-43851630 C>T_KIHGKSQNQVTISSQDQEHGHKENK
15:57929968-57929968 G>A	0.0	3466	MELANOMA	-	-	-	-	GCOM1,MYZAP	ENST00000463717,p.E337K|ENST00000460962,p.E337K|ENST00000482814,p.E337K|ENST00000496101,p.E306K|ENST00000380565,p.E337K|uc002aei.3,p.E337K|ENST00000380569,p.E337K|ENST00000380560,p.E268K|ENST00000396180,p.E306K|ENST00000267853,p.E337K|NM_001018090,p.E337K|ENST00000587652,p.E337K|NM_001018091,p.E337K|ENST00000496627,p.E337K|uc031qsg.1,p.E337K|ENST00000574161,p.E337K|NM_001285900,p.E337K|ENST00000488175,p.E337K|NM_001018100,p.E337K|ENST00000461709,p.E52K|ENST00000380568,p.E337K|uc002aeo.3,p.E337K|uc002aej.3,p.E337K|ENST00000572390,p.E337K|NM_152451,p.E337K|ENST00000477282,p.E337K|ENST00000380561,p.E306K|ENST00000471563,p.E268K|ENST00000468886,p.E306K|uc002aem.3,p.E337K	protein_coding	uc031qsg.1	nonsynonymous SNV	exon9	c.G1009A	p.E337K	TEMSGELTDSDKERYQQLEEASASL	TEMSGELTDSDKKRYQQLEEASASL	2.0	7.0	unscreened	-	3466_15:57929968-57929968 G>A_TEMSGELTDSDKKRYQQLEEASASL
2:171375989-171375989 G>A	0.0	3466	MELANOMA	-	-	-	-	MYO3B	uc002ufz.3,p.E1145K|uc002ufy.3,p.E1172K|ENST00000334231,p.E1181K|ENST00000317935,p.E1145K|ENST00000409044,p.E1145K|uc002ufv.4,p.E1172K|ENST00000408978,p.E1172K|NM_138995,p.E1172K|NM_001083615,p.E1145K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ufz.3	nonsynonymous SNV	exon29	c.G3433A	p.E1145K	RGSVHRRSHSQAESNNGRTQTSSNS	RGSVHRRSHSQAKSNNGRTQTSSNS	1.0	3.0	unscreened	-	3466_2:171375989-171375989 G>A_RGSVHRRSHSQAKSNNGRTQTSSNS
2:60688311-60688311 T>C	0.0	3466	MELANOMA	-	-	-	1	BCL11A	uc010ypi.2,p.E248G|NM_018014,p.E579G|ENST00000356842,p.E579G|uc002sab.3,p.E579G|ENST00000358510,p.E545G|NM_022893,p.E579G|uc002sae.1,p.E579G|uc002saf.1,p.E545G|ENST00000538214,p.E545G|uc002sad.1,p.E427G|ENST00000537768,p.E248G|uc010ypj.2,p.E545G|ENST00000335712,p.E579G	protein_coding, processed_transcript	uc010ypj.2	nonsynonymous SNV	exon3	c.A1634G	p.E545G	GEKHKRGHLAEAEGHRDTCDEDSVA	GEKHKRGHLAEAGGHRDTCDEDSVA	1.0	3.0	unscreened	-	3466_2:60688311-60688311 T>C_GEKHKRGHLAEAGGHRDTCDEDSVA
1:207762055-207762055 G>A, 1:207762056-207762056 G>A	0.0	3466	MELANOMA	-	-	-	-	CR1	ENST00000367051,p.G1466R|uc009xcl.1,p.G1016R|ENST00000534202,p.G1016R|uc001hfx.3,p.G1916R|ENST00000367053,p.G1466R|NM_000651,p.G1916R|ENST00000400960,p.G1466R|ENST00000367052,p.G1466R|NM_000573,p.G1466R|ENST00000367049,p.G1916R|uc021pij.1,p.G1466R|uc001hfy.3,p.G1466R	retained_intron, protein_coding, processed_transcript	uc021pij.1	nonsynonymous SNV	exon27	c.G4396A	p.G1466R	RKSCGPPPEPFNGMVHINTDTQFGS	RKSCGPPPEPFNKMVHINTDTQFGS	2.0	4.0	unscreened	Dinucleoitde, 1:207762056-207762056 G>A, residue 13 G>K PR	3466_1:207762055-207762055 G>A, 1:207762056-207762056 G>A_RKSCGPPPEPFNKMVHINTDTQFGS
10:105906097-105906097 G>A	0.0	3466	MELANOMA	-	-	-	-	CFAP43	uc001kxw.3,p.S1260L|NM_025145,p.S1260L|ENST00000357060,p.S1260L	protein_coding, processed_transcript	uc001kxw.3	nonsynonymous SNV	exon30	c.C3779T	p.S1260L	YLTRKQHEKSQTSEAVRKSREDLDV	YLTRKQHEKSQTLEAVRKSREDLDV	1.0	4.0	unscreened	-	3466_10:105906097-105906097 G>A_YLTRKQHEKSQTLEAVRKSREDLDV
20:23545595-23545595 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1713287;OCCURENCE=2(skin)	-	CST9L	uc002wtk.4,p.G145E|NM_080610,p.G145E|ENST00000376979,p.G145E	protein_coding	uc002wtk.4	nonsynonymous SNV	exon3	c.G434A	p.G145E	TQFSLLNKTCLEGFH	TQFSLLNKTCLEEFH	1.0	6.0	unscreened	-	3466_20:23545595-23545595 C>T_TQFSLLNKTCLEEFH
16:62055147-62055147 C>T	0.0	3466	MELANOMA	-	-	-	-	CDH8	ENST00000584337,p.R54Q|ENST00000585315,p.R54Q|ENST00000584506,p.R54Q|uc002eog.2,p.R54Q|NM_001796,p.R54Q|ENST00000577390,p.R54Q|ENST00000299345,p.R54Q|ENST00000583382,p.R54Q|ENST00000577730,p.R54Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002eog.2	nonsynonymous SNV	exon2	c.G161A	p.R54Q	SPLELNSLGEEQRILNRSKRGWVWN	SPLELNSLGEEQQILNRSKRGWVWN	1.0	4.0	unscreened	-	3466_16:62055147-62055147 C>T_SPLELNSLGEEQQILNRSKRGWVWN
3:38770242-38770242 C>T, 3:38770244-38770244 C>T	0.0	3466	MELANOMA	-	-	-	-	SCN10A	NM_001293307,p.G712E|NM_001293306,p.G810E|ENST00000449082,p.G810E|NM_006514,p.G810E|uc003ciq.3,p.G810E	protein_coding	uc003ciq.3	nonsynonymous SNV	exon15	c.G2429A	p.G810E	VFVFALVGKQLLGENYRNNRKNISAP	VFVFALVGKQLLEKNYRNNRKNISAP	1.0	5.0	unscreened	Dinucleotide variant, 3:38770242-38770242 C>T, residue 14 E>K PR	3466_3:38770242-38770242 C>T, 3:38770244-38770244 C>T_VFVFALVGKQLLEKNYRNNRKNISAP
20:3652425-3652425 C>T	0.0	3466	MELANOMA	-	-	-	-	ADAM33	uc010gbb.1,p.D86N	protein_coding, processed_transcript	uc010gbb.1	nonsynonymous SNV	exon4	c.G256A	p.D86N	GQELLLELEKNQDALCGKLQCQGGK	GQELLLELEKNQNALCGKLQCQGGK	1.0	5.0	unscreened	-	3466_20:3652425-3652425 C>T_GQELLLELEKNQNALCGKLQCQGGK
16:24268220-24268220 G>A	0.0	3466	MELANOMA	-	-	ID=COSM471513;OCCURENCE=1(kidney),1(skin)	-	CACNG3	ENST00000005284,p.E49K|NM_006539,p.E49K|uc002dmf.3,p.E49K	protein_coding	uc002dmf.3	nonsynonymous SNV	exon1	c.G145A	p.E49K	RGVCRTKSTSDNETSRKNEEVMTHS	RGVCRTKSTSDNKTSRKNEEVMTHS	1.0	2.0	unscreened	-	3466_16:24268220-24268220 G>A_RGVCRTKSTSDNKTSRKNEEVMTHS
2:79253955-79253955 G>A	0.0	3466	MELANOMA	-	-	-	-	REG3G	NM_001270040,p.D65N|ENST00000409471,p.D65N|uc010ffu.4,p.D65N	retained_intron, protein_coding	uc010ffu.4	nonsynonymous SNV	exon3	c.G193A	p.D65N	ALFLSPKSWMDADGSEPDGDGWEWS	ALFLSPKSWMDANGSEPDGDGWEWS	1.0	7.0	unscreened	-	3466_2:79253955-79253955 G>A_ALFLSPKSWMDANGSEPDGDGWEWS
3:122000982-122000982 G>A	0.0	3466	MELANOMA	0.0005	-	-	-	CASR	uc003eev.4,p.R544Q|NM_000388,p.R544Q|ENST00000490131,p.R544Q|ENST00000296154,p.R544Q	retained_intron, protein_coding	uc003eev.4	nonsynonymous SNV	exon6	c.G1631A	p.R544Q	GFSREVPFSNCSRDCLAGTRKGIIE	GFSREVPFSNCSQDCLAGTRKGIIE	1.0	5.0	unscreened	-	3466_3:122000982-122000982 G>A_GFSREVPFSNCSQDCLAGTRKGIIE
2:1926820-1926820 C>T	0.0	3466	MELANOMA	-	-	-	-	MYT1L	NM_015025,p.E241K|uc002qxd.3,p.E241K|ENST00000399161,p.E241K|ENST00000428368,p.E241K|uc002qxe.3,p.E241K	retained_intron, protein_coding, processed_transcript	uc002qxe.3	nonsynonymous SNV	exon10	c.G721A	p.E241K	TSNSLEDDSDKNENLGRKSELSLDL	TSNSLEDDSDKNKNLGRKSELSLDL	1.0	3.0	unscreened	-	3466_2:1926820-1926820 C>T_TSNSLEDDSDKNKNLGRKSELSLDL
14:20483097-20483097 A>T	0.0	3466	MELANOMA	-	-	-	-	OR4K14	NM_001004712,p.F86I|ENST00000305045,p.F86I|uc010tky.2,p.F86I	protein_coding	uc010tky.2	nonsynonymous SNV	exon1	c.T256A	p.F86I	LASFATPKMIRDFLSDQKLISFGGC	LASFATPKMIRDILSDQKLISFGGC	1.0	6.0	unscreened	-	3466_14:20483097-20483097 A>T_LASFATPKMIRDILSDQKLISFGGC
10:127462865-127462865 C>T	0.0	3466	MELANOMA	-	-	-	-	MMP21	NM_147191,p.E78K|uc001liu.3,p.E78K|ENST00000368808,p.E78K	protein_coding	uc001liu.3	nonsynonymous SNV	exon2	c.G232A	p.E78K	WAAWGPSPEGPPETPKGAALAEAVR	WAAWGPSPEGPPKTPKGAALAEAVR	1.0	7.0	unscreened	-	3466_10:127462865-127462865 C>T_WAAWGPSPEGPPKTPKGAALAEAVR
11:125618620-125618620 G>A	0.0	3466	MELANOMA	-	-	-	-	PATE1	ENST00000437148,p.D113N|uc009zbr.3,p.D113N|uc001qct.3,p.D125N|NM_138294,p.D125N|ENST00000305738,p.D125N	retained_intron, protein_coding	uc009zbr.3	nonsynonymous SNV	exon4	c.G337A	p.D113N	FRCCRSHDLCNEDL	FRCCRSHDLCNENL	1.0	6.0	unscreened	-	3466_11:125618620-125618620 G>A_FRCCRSHDLCNENL
1:176709310-176709310 G>A	0.0	3466	MELANOMA	-	-	-	-	PAPPA2	uc001gkz.3,p.G1377R|ENST00000367662,p.G1377R|NM_020318,p.G1377R	protein_coding, processed_transcript	uc001gkz.3	nonsynonymous SNV	exon14	c.G4129A	p.G1377R	LSAPSNCISEDEGQNHQGQSCIHRP	LSAPSNCISEDERQNHQGQSCIHRP	1.0	3.0	unscreened	-	3466_1:176709310-176709310 G>A_LSAPSNCISEDERQNHQGQSCIHRP
1:175375612-175375612 G>A	0.0	3466	MELANOMA	-	-	-	-	TNR	uc010pmz.1,p.S80F|ENST00000367674,p.S80F|uc009wwu.1,p.S80F|NM_003285,p.S80F|ENST00000263525,p.S80F|uc001gkp.1,p.S80F	protein_coding	uc010pmz.1	nonsynonymous SNV	exon3	c.C239T	p.S80F	VYNINVPLDNLCSSGLEASAEQEVS	VYNINVPLDNLCFSGLEASAEQEVS	1.0	7.0	unscreened	-	3466_1:175375612-175375612 G>A_VYNINVPLDNLCFSGLEASAEQEVS
12:7294682-7294682 A>G	1.0	3466	MELANOMA	-	-	-	-	CLSTN3	uc001qsr.3,p.E496G|NM_014718,p.E496G|ENST00000537408,p.E508G|ENST00000266546,p.E496G|uc001qss.3,p.E508G	retained_intron, protein_coding, processed_transcript	uc001qss.3	nonsynonymous SNV	exon9	c.A1523G	p.E508G	REPALMIGACWTEEKNKEKEKGDNS	REPALMIGACWTGEKNKEKEKGDNS	8.0	4.0	unscreened	-	3466_12:7294682-7294682 A>G_REPALMIGACWTGEKNKEKEKGDNS
19:12985052-12985052 G>A	0.0	3466	MELANOMA	0.0041	-	-	-	MAST1	NM_014975,p.E1361K|ENST00000251472,p.E1361K|uc002mvm.3,p.E1361K	retained_intron, protein_coding	uc002mvm.3	nonsynonymous SNV	exon26	c.G4081A	p.E1361K	GASRPPVSSKEKESPGGAEACTPPR	GASRPPVSSKEKKSPGGAEACTPPR	1.0	7.0	unscreened	-	3466_19:12985052-12985052 G>A_GASRPPVSSKEKKSPGGAEACTPPR
19:38379939-38379939 C>T	0.0	3466	MELANOMA	-	-	-	-	WDR87	NM_031951,p.E1419K|uc010efu.2,p.E1419K|ENST00000447313,p.E1458K|ENST00000303868,p.E1419K|NM_001291088,p.E1458K|uc002ohj.2,p.E1458K	retained_intron, protein_coding	uc010efu.2	nonsynonymous SNV	exon6	c.G4255A	p.E1419K	VQKERKVGKIKREMTKEERDMSEEV	VQKERKVGKIKRKMTKEERDMSEEV	1.0	7.0	unscreened	-	3466_19:38379939-38379939 C>T_VQKERKVGKIKRKMTKEERDMSEEV
3:186571052-186571052 G>A	0.0	3466	MELANOMA	-	-	-	-	ADIPOQ	uc003fra.3,p.G69R|uc010hyy.3,p.G69R|NM_004797,p.G69R|ENST00000412955,p.G69R|ENST00000320741,p.G69R|ENST00000444204,p.G69R|NM_001177800,p.G69R	protein_coding	uc010hyy.3	nonsynonymous SNV	exon3	c.G205A	p.G69R	GRDGTPGEKGEKGDPGLIGPKGDIG	GRDGTPGEKGEKRDPGLIGPKGDIG	1.0	7.0	unscreened	-	3466_3:186571052-186571052 G>A_GRDGTPGEKGEKRDPGLIGPKGDIG
1:152882772-152882772 G>A	0.0	3466	MELANOMA	-	-	-	-	IVL	ENST00000392667,p.E21K|uc001fau.3,p.E167K|uc021ozl.1,p.E167K|NM_005547,p.E167K|ENST00000368764,p.E167K	protein_coding	uc021ozl.1	nonsynonymous SNV	exon1	c.G499A	p.E167K	LPEQQEGHLKHLEQQEGQLKHPEQQ	LPEQQEGHLKHLKQQEGQLKHPEQQ	1.0	7.0	unscreened	-	3466_1:152882772-152882772 G>A_LPEQQEGHLKHLKQQEGQLKHPEQQ
12:18466994-18466994 G>A	0.0	3466	MELANOMA	-	-	-	-	PIK3C2G	uc010sib.2,p.R378Q|NM_001288772,p.R378Q|uc010sic.2,p.R156Q|NM_004570,p.R378Q|ENST00000538779,p.R378Q|NM_001288774,p.R156Q|ENST00000433979,p.R378Q|ENST00000266497,p.R378Q|ENST00000535651,p.R378Q|uc001rdt.3,p.R378Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc010sic.2	nonsynonymous SNV	exon5	c.G467A	p.R156Q	LQKSREAPGKLSRKHEEDHSQFYLN	LQKSREAPGKLSQKHEEDHSQFYLN	1.0	6.0	unscreened	-	3466_12:18466994-18466994 G>A_LQKSREAPGKLSQKHEEDHSQFYLN
3:108682362-108682362 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1693136;OCCURENCE=1(skin)	-	MORC1	ENST00000232603,p.E900K|NM_014429,p.E900K|ENST00000483760,p.E879K|uc011bhn.2,p.E879K|uc003dxl.3,p.E900K	protein_coding	uc011bhn.2	nonsynonymous SNV	exon26	c.G2635A	p.E879K	IIYDSNTRGIHNEISLGQCENKRKI	IIYDSNTRGIHNKISLGQCENKRKI	1.0	6.0	unscreened	-	3466_3:108682362-108682362 C>T_IIYDSNTRGIHNKISLGQCENKRKI
22:40391131-40391131 G>A	0.0	3466	MELANOMA	-	-	-	-	FAM83F	NM_138435,p.E29K|ENST00000333407,p.E29K|uc003ayk.1,p.E29K	protein_coding, processed_transcript	uc003ayk.1	nonsynonymous SNV	exon1	c.G85A	p.E29K	KVTEAQAAFYYCERRRAALEALLGG	KVTEAQAAFYYCKRRRAALEALLGG	1.0	6.0	unscreened	-	3466_22:40391131-40391131 G>A_KVTEAQAAFYYCKRRRAALEALLGG
16:9857812-9857812 C>T	1.0	3466	MELANOMA	-	-	-	1	GRIN2A	ENST00000330684,p.G1197S|ENST00000396573,p.G1197S|ENST00000404927,p.G1197S|uc002czo.4,p.G1197S|ENST00000396575,p.G1197S|ENST00000562109,p.G1197S|ENST00000535259,p.G1040S|uc010uym.2,p.G1197S|NM_001134407,p.G1197S|NM_001134408,p.G1197S|NM_000833,p.G1197S|uc002czr.4,p.G1197S|uc010uyn.2,p.G1040S	retained_intron, protein_coding, processed_transcript	uc010uyn.2	nonsynonymous SNV	exon12	c.G3118A	p.G1040S	KLYSKHFTLKDKGSPHSETSERYRQ	KLYSKHFTLKDKSSPHSETSERYRQ	1.0	7.0	unscreened	-	3466_16:9857812-9857812 C>T_KLYSKHFTLKDKSSPHSETSERYRQ
1:47564769-47564769 G>A	0.0	3466	MELANOMA	-	-	ID=COSM3771764;OCCURENCE=1(pancreas)	-	CYP4Z1	NM_178134,p.E294K|uc001cqu.1,p.E294K|ENST00000334194,p.E294K	protein_coding, processed_transcript	uc001cqu.1	nonsynonymous SNV	exon8	c.G880A	p.E294K	WDFLDILLSAKSENTKDFSEADLQA	WDFLDILLSAKSKNTKDFSEADLQA	1.0	7.0	unscreened	-	3466_1:47564769-47564769 G>A_WDFLDILLSAKSKNTKDFSEADLQA
4:75250478-75250478 G>A	1.0	3466	MELANOMA	-	-	ID=COSM1694557;OCCURENCE=1(skin)	-	EREG	ENST00000244869,p.E155K|uc003hie.1,p.E155K|NM_001432,p.E155K	retained_intron, protein_coding, processed_transcript	uc003hie.1	nonsynonymous SNV	exon5	c.G463A	p.E155K	WYRNRKSKEPKKEYERVTSGDPELP	WYRNRKSKEPKKKYERVTSGDPELP	1.0	6.0	-	-	3466_4:75250478-75250478 G>A_WYRNRKSKEPKKKYERVTSGDPELP
3:130134499-130134499 G>A	0.0	3466	MELANOMA	-	-	-	-	COL6A5	uc010htk.2,p.G1591E|uc010htj.2,p.G1591E|ENST00000312481,p.G1591E|NM_153264,p.G1591E|ENST00000265379,p.G1591E|NM_001278298,p.G1591E|ENST00000432398,p.G1591E	protein_coding, nonsense_mediated_decay	uc010htk.2	nonsynonymous SNV	exon23	c.G4772A	p.G1591E	GAEGLQGPQGSQGNPGRKGEKGSQG	GAEGLQGPQGSQENPGRKGEKGSQG	1.0	4.0	unscreened	-	3466_3:130134499-130134499 G>A_GAEGLQGPQGSQENPGRKGEKGSQG
3:121712077-121712077 C>T	0.0	3466	MELANOMA	-	-	-	-	ILDR1	NM_001199800,p.E418K|ENST00000273691,p.E463K|uc003eer.3,p.E463K|NM_175924,p.E463K|ENST00000462014,p.E475K|uc003eeq.3,p.E475K|NM_001199799,p.E507K|ENST00000393631,p.E418K|uc003ees.3,p.E507K|uc010hrg.3,p.E418K|ENST00000344209,p.E507K	protein_coding, processed_transcript	uc010hrg.3	nonsynonymous SNV	exon5	c.G1252A	p.E418K	HRRGSHSPHWPEEKPPSYRSLDITP	HRRGSHSPHWPEKKPPSYRSLDITP	1.0	3.0	unscreened	-	3466_3:121712077-121712077 C>T_HRRGSHSPHWPEKKPPSYRSLDITP
18:32954228-32954228 G>A	0.0	3466	MELANOMA	-	-	-	-	ZNF396	NM_145756,p.S10L|ENST00000306346,p.S10L|ENST00000587422,p.S10L|ENST00000585522,p.S10L|ENST00000586687,p.S10L|uc010xcf.1,p.S10L|ENST00000589332,p.S10L	retained_intron, protein_coding	uc010xcf.1	nonsynonymous SNV	exon2	c.C29T	p.S10L	MSAKLGKSSSLLTQTSEECNGI	MSAKLGKSSLLLTQTSEECNGI	2.0	5.0	unscreened	-	3466_18:32954228-32954228 G>A_MSAKLGKSSLLLTQTSEECNGI
3:54952508-54952508 C>T	0.0	3466	MELANOMA	-	-	-	-	LRTM1	uc003dhl.3,p.R339Q|ENST00000493075,p.R263Q|ENST00000273286,p.R339Q|NM_020678,p.R339Q	protein_coding	uc003dhl.3	nonsynonymous SNV	exon3	c.G1016A	p.R339Q	QTNDPGKVEEKERFDSSPA	QTNDPGKVEEKEQFDSSPA	1.0	4.0	unscreened	-	3466_3:54952508-54952508 C>T_QTNDPGKVEEKEQFDSSPA
1:92647261-92647261 G>A	0.0	3466	MELANOMA	-	-	-	-	KIAA1107	uc010otd.2,p.E903K|ENST00000370378,p.E903K|uc001dop.3,p.E828K|NM_015237,p.E903K|ENST00000409154,p.E958K	protein_coding	uc010otd.2	nonsynonymous SNV	exon8	c.G2707A	p.E903K	NDLFQVNSTSDDEIPRKRPEIWSRS	NDLFQVNSTSDDKIPRKRPEIWSRS	2.0	7.0	unscreened	-	3466_1:92647261-92647261 G>A_NDLFQVNSTSDDKIPRKRPEIWSRS
20:10030488-10030488 G>A	0.0	3466	MELANOMA	-	-	-	-	ANKEF1	uc010gbz.3,p.G235E|ENST00000378392,p.G424E|NM_022096,p.G424E|uc002wnp.3,p.G424E|ENST00000378380,p.G424E|NM_198798,p.G424E|uc002wno.3,p.G424E	protein_coding, processed_transcript	uc010gbz.3	nonsynonymous SNV	exon7	c.G704A	p.G235E	EPKKKEKGMGKKGKKGKFVLPLPIC	EPKKKEKGMGKKEKKGKFVLPLPIC	3.0	4.0	unscreened	Snp within 36 nucleotides, 20:10030452-10030452 G>A, residue 1 G>E PR	3466_20:10030488-10030488 G>A_EPKKKEKGMGKKEKKGKFVLPLPIC
20:45717983-45717983 G>A	0.0	3466	MELANOMA	-	-	-	-	EYA2	ENST00000317304,p.S256N|ENST00000327619,p.S256N|uc002xsm.3,p.S256N|NM_005244,p.S256N|uc010ghp.3,p.S256N|uc002xsq.3,p.S256N|ENST00000458636,p.S127N|NM_172110,p.S256N|ENST00000357410,p.S256N|ENST00000497062,p.S232N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ghp.3	nonsynonymous SNV	exon8	c.G767A	p.S256N	ASDGKLRGRSKRSSDPSPAGDNEIE	ASDGKLRGRSKRNSDPSPAGDNEIE	1.0	3.0	unscreened	-	3466_20:45717983-45717983 G>A_ASDGKLRGRSKRNSDPSPAGDNEIE
16:9857811-9857811 C>T	1.0	3466	MELANOMA	-	-	-	1	GRIN2A	ENST00000396575,p.G1197D|uc010uym.2,p.G1197D|ENST00000562109,p.G1197D|ENST00000330684,p.G1197D|NM_001134408,p.G1197D|NM_001134407,p.G1197D|ENST00000535259,p.G1040D|uc002czr.4,p.G1197D|ENST00000396573,p.G1197D|uc010uyn.2,p.G1040D|ENST00000404927,p.G1197D|uc002czo.4,p.G1197D|NM_000833,p.G1197D	retained_intron, protein_coding, processed_transcript	uc010uyn.2	nonsynonymous SNV	exon12	c.G3119A	p.G1040D	KLYSKHFTLKDKGSPHSETSERYRQ	KLYSKHFTLKDKDSPHSETSERYRQ	1.0	7.0	unscreened	-	3466_16:9857811-9857811 C>T_KLYSKHFTLKDKDSPHSETSERYRQ
10:28023439-28023439 C>T	0.0	3466	MELANOMA	-	-	-	-	MKX	uc001itx.4,p.E262K|ENST00000419761,p.E262K|ENST00000375790,p.E262K|NM_173576,p.E262K|uc001ity.4,p.E262K|NM_001242702,p.E262K|ENST00000460919,p.E262K	protein_coding	uc001ity.4	nonsynonymous SNV	exon5	c.G784A	p.E262K	HSGSFSSNEFEEELVSPSSSETEGN	HSGSFSSNEFEEKLVSPSSSETEGN	1.0	7.0	unscreened	-	3466_10:28023439-28023439 C>T_HSGSFSSNEFEEKLVSPSSSETEGN
4:74280867-74280867 G>A	0.0	3466	MELANOMA	-	-	-	-	ALB	ENST00000415165,p.E200K|uc003hgw.4,p.E200K|ENST00000503124,p.E242K|ENST00000295897,p.E392K|uc011cbe.2,p.E71K|uc011cbf.2,p.E282K|ENST00000401494,p.E277K|ENST00000509063,p.E392K|uc003hgs.4,p.E392K|NM_000477,p.E392K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cbf.2	nonsynonymous SNV	exon8	c.G844A	p.E282K	TLEKCCAAADPHECYAKVFDEFKPL	TLEKCCAAADPHKCYAKVFDEFKPL	1.0	5.0	unscreened	-	3466_4:74280867-74280867 G>A_TLEKCCAAADPHKCYAKVFDEFKPL
16:30566892-30566892 C>T	0.0	3466	MELANOMA	-	-	-	-	ZNF764	uc002dyq.3,p.E284K|ENST00000252797,p.E284K|NM_001172679,p.E283K|NM_033410,p.E284K|uc002dyr.2,p.E283K|ENST00000395091,p.E283K	retained_intron, protein_coding	uc002dyr.2	nonsynonymous SNV	exon3	c.G847A	p.E283K	SALYQHRRVHSGETPFPCPDCGRAF	SALYQHRRVHSGKTPFPCPDCGRAF	5.0	4.0	unscreened	-	3466_16:30566892-30566892 C>T_SALYQHRRVHSGKTPFPCPDCGRAF
20:52601888-52601888 C>T	0.0	3466	MELANOMA	-	-	-	-	BCAS1	uc010zza.1,p.E118K|ENST00000448484,p.E267K|uc002xws.2,p.E360K|uc010gim.2,p.E308K|NM_003657,p.E360K|ENST00000371435,p.E360K|uc002xwt.2,p.E360K|uc010gil.1,p.E360K|ENST00000371440,p.E405K|uc010zzb.1,p.E308K|ENST00000434986,p.E118K|ENST00000395961,p.E360K	protein_coding	uc010zzb.1	nonsynonymous SNV	exon5	c.G922A	p.E308K	HTQSVTTPEPAKEGTKEKSGPTSLP	HTQSVTTPEPAKKGTKEKSGPTSLP	1.0	7.0	unscreened	-	3466_20:52601888-52601888 C>T_HTQSVTTPEPAKKGTKEKSGPTSLP
19:48052704-48052704 C>T	0.0	3466	MELANOMA	-	-	-	-	ZNF541	uc002phg.5,p.E116K|ENST00000448976,p.E116K|NM_001277075,p.E116K|uc010xyt.3,p.E116K|ENST00000391901,p.E116K|ENST00000314121,p.E116K	protein_coding, processed_transcript	uc010xyt.3	nonsynonymous SNV	exon2	c.G346A	p.E116K	LGLGVLKAKEADEGGRATSGSARKG	LGLGVLKAKEADKGGRATSGSARKG	1.0	7.0	unscreened	-	3466_19:48052704-48052704 C>T_LGLGVLKAKEADKGGRATSGSARKG
10:31791392-31791392 G>A	1.0	3466	MELANOMA	-	-	-	2	ZEB1	uc009xlp.3,p.D130N|uc010qeh.2,p.D79N|NM_030751,p.D146N|ENST00000559476,p.D130N|ENST00000424869,p.D147N|ENST00000446923,p.D130N|ENST00000320985,p.D146N|NM_001174093,p.D126N|uc001ivv.4,p.D126N|uc001ivs.4,p.D146N|NM_001174096,p.D147N|NM_001174095,p.D79N|ENST00000361642,p.D147N|ENST00000560721,p.D126N|NM_001128128,p.D130N|NM_001174094,p.D129N|uc001ivu.4,p.D147N|uc009xlo.2,p.D129N|ENST00000561212,p.D154N|ENST00000542815,p.D79N	retained_intron, protein_coding, processed_transcript	uc010qeh.2	nonsynonymous SNV	exon3	c.G235A	p.D79N	DTAVIFPEAPEEDQRQGTPEASGHD	DTAVIFPEAPEENQRQGTPEASGHD	9.0	6.0	unscreened	-	3466_10:31791392-31791392 G>A_DTAVIFPEAPEENQRQGTPEASGHD
1:114226208-114226208 G>A	0.0	3466	MELANOMA	-	-	-	-	MAGI3	uc001edk.3,p.D1340N|ENST00000307546,p.D1340N|NM_001142782,p.D1340N	protein_coding, processed_transcript	uc001edk.3	nonsynonymous SNV	exon21	c.G4018A	p.D1340N	PDGKEKSDVIRKDAKQNQLEKSRTR	PDGKEKSDVIRKNAKQNQLEKSRTR	4.0	3.0	unscreened	-	3466_1:114226208-114226208 G>A_PDGKEKSDVIRKNAKQNQLEKSRTR
10:118101623-118101623 G>A	0.0	3466	MELANOMA	-	-	-	-	CCDC172	uc001lck.3,p.E120K|NM_198515,p.E120K|ENST00000333254,p.E120K	protein_coding, processed_transcript	uc001lck.3	nonsynonymous SNV	exon5	c.G358A	p.E120K	FIKEITDFNNDYEITKKRELLMKEN	FIKEITDFNNDYKITKKRELLMKEN	1.0	5.0	unscreened	-	3466_10:118101623-118101623 G>A_FIKEITDFNNDYKITKKRELLMKEN
19:6916328-6916328 G>A	0.0	3466	MELANOMA	-	-	-	-	EMR1	NM_001256254,p.G316R|ENST00000312053,p.G457R|NM_001256252,p.G405R|NM_001256253,p.G457R|NM_001974,p.G457R|ENST00000450315,p.G280R|uc010dvb.4,p.G405R|uc010xjj.3,p.G280R|ENST00000381407,p.G316R|NM_001256255,p.G280R|ENST00000381404,p.G405R|uc002mfw.4,p.G457R|ENST00000250572,p.G457R|uc010dvc.4,p.G457R|uc010xji.3,p.G316R	retained_intron, protein_coding, processed_transcript	uc010xjj.3	nonsynonymous SNV	exon9	c.G838A	p.G280R	SEENVTLDLVAKGDKMKIGCSTIEE	SEENVTLDLVAKRDKMKIGCSTIEE	2.0	4.0	unscreened	-	3466_19:6916328-6916328 G>A_SEENVTLDLVAKRDKMKIGCSTIEE
3:1444146-1444146 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1692289;OCCURENCE=2(skin)	-	CNTN6	NM_014461,p.E988K|ENST00000446702,p.E988K|uc003boz.3,p.E988K|ENST00000350110,p.E988K|NM_001289080,p.E988K|ENST00000539053,p.E916K|NM_001289081,p.E916K|uc003bpa.3,p.E988K|uc011asj.2,p.E916K	retained_intron, protein_coding, nonsense_mediated_decay	uc011asj.2	nonsynonymous SNV	exon21	c.G2746A	p.E916K	TVSDGGDGSSSEEIRIPKMSSLSSR	TVSDGGDGSSSEKIRIPKMSSLSSR	1.0	5.0	unscreened	-	3466_3:1444146-1444146 G>A_TVSDGGDGSSSEKIRIPKMSSLSSR
3:122000982-122000982 G>A	0.0	3466	MELANOMA	0.0005	-	-	-	CASR	uc003eew.4,p.R554Q|ENST00000498619,p.R554Q|NM_001178065,p.R554Q	retained_intron, protein_coding	uc003eew.4	nonsynonymous SNV	exon6	c.G1661A	p.R554Q	LSVLQVPFSNCSRDCLAGTRKGIIE	LSVLQVPFSNCSQDCLAGTRKGIIE	1.0	5.0	unscreened	-	3466_3:122000982-122000982 G>A_LSVLQVPFSNCSQDCLAGTRKGIIE
1:57476832-57476832 C>T	1.0	3466	MELANOMA	-	-	-	-	DAB1	ENST00000420954,p.E518K|uc001cyq.1,p.E518K|ENST00000371234,p.E520K|uc001cyr.1,p.E434K|ENST00000414851,p.E502K|uc001cyt.1,p.E518K|uc009vzx.1,p.E520K|uc009vzw.1,p.E502K|uc001cys.1,p.E520K|NM_021080,p.E520K|ENST00000371236,p.E520K|ENST00000439789,p.E434K|ENST00000371231,p.E553K	protein_coding, processed_transcript	uc009vzx.1	nonsynonymous SNV	exon13	c.G1558A	p.E520K	IFEEGFESPSKSEEQEAPDGSQASS	IFEEGFESPSKSKEQEAPDGSQASS	5.0	7.0	unscreened	-	3466_1:57476832-57476832 C>T_IFEEGFESPSKSKEQEAPDGSQASS
10:50533399-50533399 G>A	0.0	3466	MELANOMA	-	-	-	-	C10orf71	NM_001135196,p.D937N|uc021pqa.2,p.D937N|uc021pqb.1,p.D937N|ENST00000374144,p.D937N	protein_coding, processed_transcript	uc021pqb.1	nonsynonymous SNV	exon1	c.G2809A	p.D937N	TRVKCMANEVMEDPGQGSSMARMEA	TRVKCMANEVMENPGQGSSMARMEA	1.0	5.0	unscreened	-	3466_10:50533399-50533399 G>A_TRVKCMANEVMENPGQGSSMARMEA
3:109047826-109047826 C>T	0.0	3466	MELANOMA	-	-	-	-	DPPA4	uc011bho.2,p.E165K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bho.2	nonsynonymous SNV	exon5	c.G493A	p.E165K	CWSSLGSRKARRESECTLLASCLQF	CWSSLGSRKARRKSECTLLASCLQF	1.0	6.0	unscreened	-	3466_3:109047826-109047826 C>T_CWSSLGSRKARRKSECTLLASCLQF
11:130278727-130278727 C>T	0.0	3466	MELANOMA	-	-	-	-	ADAMTS8	ENST00000257359,p.R620Q|NM_007037,p.R620Q|uc001qgf.3,p.R101Q|uc001qgg.4,p.R620Q	retained_intron, protein_coding	uc001qgg.4	nonsynonymous SNV	exon7	c.G1859A	p.R620Q	LQWVPKYAGVSPRDRCKLFCRARGR	LQWVPKYAGVSPQDRCKLFCRARGR	2.0	4.0	unscreened	-	3466_11:130278727-130278727 C>T_LQWVPKYAGVSPQDRCKLFCRARGR
18:70205419-70205419 G>A	0.0	3466	MELANOMA	-	-	-	-	CBLN2	ENST00000581073,p.P109S|NM_182511,p.P223S|uc002lkv.2,p.P223S|uc002lku.2,p.P223S|ENST00000269503,p.P223S|ENST00000584764,p.P107S|ENST00000585159,p.P223S	protein_coding, processed_transcript, ambiguous_orf	uc002lkv.2	nonsynonymous SNV	exon5	c.C667T	p.P223S	WKYSTFSGFLVFPL	WKYSTFSGFLVFSL	1.0	5.0	unscreened	-	3466_18:70205419-70205419 G>A_WKYSTFSGFLVFSL
3:129267886-129267886 G>A	0.0	3466	MELANOMA	-	-	-	-	H1FOO	NM_153833,p.A141T|uc003emu.3,p.A141T|ENST00000324382,p.A141T	protein_coding	uc003emu.3	nonsynonymous SNV	exon3	c.G421A	p.A141T	PKHKKKIQPRKMAPATAPRRAGEAK	PKHKKKIQPRKMTPATAPRRAGEAK	1.0	4.0	unscreened	-	3466_3:129267886-129267886 G>A_PKHKKKIQPRKMTPATAPRRAGEAK
2:219825530-219825530 G>A	0.0	3466	MELANOMA	-	-	-	-	CDK5R2	uc002vjf.4,p.E330K|NM_003936,p.E330K|ENST00000302625,p.E330K	protein_coding	uc002vjf.4	nonsynonymous SNV	exon1	c.G988A	p.E330K	FTQVFQDLKNEGEAAASGGGPPSGG	FTQVFQDLKNEGKAAASGGGPPSGG	1.0	7.0	unscreened	-	3466_2:219825530-219825530 G>A_FTQVFQDLKNEGKAAASGGGPPSGG
3:96533625-96533625 G>A	0.0	3466	MELANOMA	-	-	-	-	EPHA6	NM_001278301,p.R53Q|uc010how.1,p.R53Q|uc031sar.1,p.R53Q|uc003drp.1,p.R53Q|ENST00000470610,p.R53Q|ENST00000389672,p.R53Q|NM_001080448,p.R53Q	protein_coding, nonsense_mediated_decay	uc031sar.1	nonsynonymous SNV	exon1	c.G158A	p.R53Q	SRRGRPGTPPAGRVEEEEEEEEEDV	SRRGRPGTPPAGQVEEEEEEEEEDV	1.0	3.0	unscreened	-	3466_3:96533625-96533625 G>A_SRRGRPGTPPAGQVEEEEEEEEEDV
1:152286086-152286086 C>T	0.0	3466	MELANOMA	-	-	-	-	FLG	uc001ezu.1,p.E426K|ENST00000368799,p.E426K|NM_002016,p.E426K	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.G1276A	p.E426K	HRGSSGSQASDSEGHSENSDTQSVS	HRGSSGSQASDSKGHSENSDTQSVS	1.0	7.0	unscreened	-	3466_1:152286086-152286086 C>T_HRGSSGSQASDSKGHSENSDTQSVS
4:166978447-166978447 G>A	0.0	3466	MELANOMA	-	-	ID=COSM1695219;OCCURENCE=1(skin)	-	TLL1	uc011cjo.2,p.R435K|uc011cjn.2,p.R634K|uc003irh.2,p.R611K|NM_012464,p.R611K|ENST00000507499,p.R634K|ENST00000061240,p.R611K	protein_coding, nonsense_mediated_decay	uc011cjo.2	nonsynonymous SNV	exon14	c.G1304A	p.R435K	CACEPGYELGPDRRSCEAACGGLLT	CACEPGYELGPDKRSCEAACGGLLT	2.0	4.0	unscreened	-	3466_4:166978447-166978447 G>A_CACEPGYELGPDKRSCEAACGGLLT
15:56142892-56142892 G>A	1.0	3466	MELANOMA	-	-	-	-	NEDD4	uc010ugj.2,p.P802S|ENST00000435532,p.P399S|uc002adj.3,p.P818S|uc002adl.3,p.P399S|NM_198400,p.P746S|NM_006154,p.P399S|NM_001284338,p.P818S|ENST00000506154,p.P802S|ENST00000338963,p.P746S|uc002adi.3,p.P746S|uc010bfm.3,p.P801S|NM_001284339,p.P802S|NM_001284340,p.P801S|ENST00000508342,p.P818S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ugj.2	nonsynonymous SNV	exon10	c.C2404T	p.P802S	TSQLTSSQSSAGPQSQASTSDSGQQ	TSQLTSSQSSAGSQSQASTSDSGQQ	7.0	4.0	unscreened	-	3466_15:56142892-56142892 G>A_TSQLTSSQSSAGSQSQASTSDSGQQ
12:3678697-3678697 G>A	0.0	3466	MELANOMA	-	-	-	-	PRMT8	ENST00000452611,p.E218K|ENST00000382622,p.E227K|uc001qmg.3,p.E41K|NM_019854,p.E227K|uc009zed.3,p.E218K|NM_001256536,p.E218K|uc001qmf.4,p.E227K	retained_intron, protein_coding, processed_transcript	uc009zed.3	nonsynonymous SNV	exon6	c.G652A	p.E218K	FPDRAALYVVAIEDRQYKDFKIHWW	FPDRAALYVVAIKDRQYKDFKIHWW	1.0	5.0	unscreened	-	3466_12:3678697-3678697 G>A_FPDRAALYVVAIKDRQYKDFKIHWW
18:28576937-28576937 C>T	0.0	3466	MELANOMA	-	-	-	-	DSC3	uc002kwj.4,p.M771I|ENST00000434452,p.M771I|NM_024423,p.M771I|NM_001941,p.M771I|uc002kwi.4,p.M771I|ENST00000360428,p.M771I	protein_coding	uc002kwj.4	nonsynonymous SNV	exon15	c.G2313A	p.M771I	SSQGFCGTMGSGMKNGGQETIEMMK	SSQGFCGTMGSGIKNGGQETIEMMK	1.0	5.0	unscreened	-	3466_18:28576937-28576937 C>T_SSQGFCGTMGSGIKNGGQETIEMMK
1:153665883-153665883 G>A	0.0	3466	MELANOMA	-	-	-	-	NPR1	ENST00000368680,p.R1060Q|uc010pdz.2,p.R806Q|NM_000906,p.R1060Q|uc010pea.2,p.R538Q|uc001fcs.4,p.R1060Q	protein_coding	uc010pea.2	nonsynonymous SNV	exon14	c.G1613A	p.R538Q	TYWLLGERGSSTRG	TYWLLGERGSSTQG	1.0	3.0	unscreened	-	3466_1:153665883-153665883 G>A_TYWLLGERGSSTQG
3:147123174-147123174 G>A	0.0	3466	MELANOMA	-	-	-	-	ZIC4	ENST00000425731,p.P29S|NM_001168379,p.P29S|uc021xff.1,p.P29S	retained_intron, protein_coding, processed_transcript	uc021xff.1	nonsynonymous SNV	exon1	c.C85T	p.P29S	GCTSAVTVFRKLPLDSKAQSQKMRY	GCTSAVTVFRKLSLDSKAQSQKMRY	1.0	4.0	unscreened	-	3466_3:147123174-147123174 G>A_GCTSAVTVFRKLSLDSKAQSQKMRY
10:86007477-86007477 C>T	0.0	3466	MELANOMA	-	-	-	-	RGR	ENST00000372092,p.R54C|uc001kdb.1,p.R54C	protein_coding, processed_transcript	uc001kdb.1	nonsynonymous SNV	exon2	c.C160T	p.R54C	GSCGQWDQPECPRCSHIQPSPCLPQ	GSCGQWDQPECPCCSHIQPSPCLPQ	1.0	5.0	unscreened	-	3466_10:86007477-86007477 C>T_GSCGQWDQPECPCCSHIQPSPCLPQ
20:21687336-21687336 G>A	0.0	3466	MELANOMA	-	-	-	-	PAX1	ENST00000444366,p.D159N|uc002wsj.3,p.D183N|uc010zsl.3,p.D183N|uc010zsm.3,p.D159N|NM_006192,p.D183N|NM_001257096,p.D183N|ENST00000398485,p.D183N	retained_intron, protein_coding, processed_transcript	uc010zsm.3	nonsynonymous SNV	exon1	c.G475A	p.D159N	RVTTPNVVKHIRDYKQGDPGIFAWE	RVTTPNVVKHIRNYKQGDPGIFAWE	2.0	6.0	unscreened	-	3466_20:21687336-21687336 G>A_RVTTPNVVKHIRNYKQGDPGIFAWE
1:241834464-241834464 G>A	0.0	3466	MELANOMA	-	-	ID=COSM906445;OCCURENCE=1(endometrium)	-	WDR64	ENST00000468967,p.R122Q|NM_144625,p.R122Q|uc001hzg.2,p.R122Q|ENST00000437684,p.R122Q|ENST00000366552,p.R122Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc001hzg.2	nonsynonymous SNV	exon3	c.G365A	p.R122Q	EENLVFFVSRKRRILISGSRRRDVI	EENLVFFVSRKRQILISGSRRRDVI	1.0	4.0	unscreened	-	3466_1:241834464-241834464 G>A_EENLVFFVSRKRQILISGSRRRDVI
3:189689737-189689737 C>T	0.0	3466	MELANOMA	-	-	-	-	LEPREL1	NM_018192,p.D587N|ENST00000427335,p.D406N|ENST00000319332,p.D587N|NM_001134418,p.D406N|uc003fsg.3,p.D406N|uc011bsk.2,p.D587N	retained_intron, protein_coding	uc011bsk.2	nonsynonymous SNV	exon12	c.G1759A	p.D587N	LSHPIHADNCLLDPEANECWKEPPA	LSHPIHADNCLLNPEANECWKEPPA	4.0	6.0	unscreened	-	3466_3:189689737-189689737 C>T_LSHPIHADNCLLNPEANECWKEPPA
10:98155024-98155024 G>A	0.0	3466	MELANOMA	-	-	-	-	TLL2	uc001kml.2,p.S549L|ENST00000357947,p.S549L|NM_012465,p.S549L|uc009xvf.2,p.S527L	protein_coding, processed_transcript	uc009xvf.2	nonsynonymous SNV	exon13	c.C1580T	p.S527L	HFCGYEKPEDVKSSSNRLWMKFVSD	HFCGYEKPEDVKLSSNRLWMKFVSD	1.0	5.0	unscreened	-	3466_10:98155024-98155024 G>A_HFCGYEKPEDVKLSSNRLWMKFVSD
4:114288785-114288785 T>C	1.0	3466	MELANOMA	-	-	-	-	ANK2	uc003ibg.4,p.V598A|uc011cgc.2,p.V790A|ENST00000510275,p.V266A|NM_001148,p.V3699A|uc003ibd.4,p.V1605A|ENST00000264366,p.V3666A|ENST00000505342,p.V709A|NM_001127493,p.V1605A|ENST00000394537,p.V1614A|ENST00000506722,p.V1605A|uc003ibe.4,p.V3699A|uc003ibf.4,p.V1614A|NM_020977,p.V1614A|ENST00000509550,p.V790A|uc003ibh.4,p.V288A|ENST00000357077,p.V3699A	retained_intron, protein_coding, processed_transcript	uc011cgc.2	nonsynonymous SNV	exon20	c.T2369C	p.V790A	CTAQHKQKEEQAVSKESETCDHPPI	CTAQHKQKEEQAASKESETCDHPPI	6.0	5.0	unscreened	-	3466_4:114288785-114288785 T>C_CTAQHKQKEEQAASKESETCDHPPI
1:89849756-89849756 G>A	0.0	3466	MELANOMA	-	-	-	-	GBP6	uc010ost.1,p.E395K|ENST00000535065,p.E395K|uc001dnf.2,p.E525K|NM_198460,p.E525K|ENST00000370456,p.E525K	protein_coding, processed_transcript	uc010ost.1	nonsynonymous SNV	exon8	c.G1183A	p.E395K	QQQMEAQVKSRKENIAQLKEKLQME	QQQMEAQVKSRKKNIAQLKEKLQME	1.0	6.0	unscreened	Snp within 36 nucleotides, 1:89849742-89849742 A>T, residue 8 D>V PR	3466_1:89849756-89849756 G>A_QQQMEAQVKSRKKNIAQLKEKLQME
2:220166895-220166895 G>A	0.0	3466	MELANOMA	-	-	-	-	PTPRN	uc010zlc.2,p.R230C|uc002vkz.3,p.R320C|NM_001199763,p.R320C|ENST00000423636,p.R230C|NM_001199764,p.R230C|ENST00000295718,p.R320C|NM_002846,p.R320C|uc002vla.3,p.R320C|ENST00000409251,p.R320C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zlc.2	nonsynonymous SNV	exon6	c.C688T	p.R230C	SPEGYEKEGLGDRGEKPASPAVQPD	SPEGYEKEGLGDCGEKPASPAVQPD	1.0	6.0	unscreened	-	3466_2:220166895-220166895 G>A_SPEGYEKEGLGDCGEKPASPAVQPD
2:228883024-228883024 C>T	0.0	3466	MELANOMA	-	-	-	-	SPHKAP	uc010zlx.1,p.S849N|ENST00000344657,p.S849N|NM_030623,p.S849N|ENST00000392056,p.S849N|uc002vpq.2,p.S849N|NM_001142644,p.S849N|uc002vpp.2,p.S849N	retained_intron, protein_coding	uc010zlx.1	nonsynonymous SNV	exon7	c.G2546A	p.S849N	GIAGEDTKSPQHSENECRASSEGQR	GIAGEDTKSPQHNENECRASSEGQR	1.0	7.0	unscreened	Snp within 36 nucleotides, 2:228883029-228883029 A>T, residue 11 H>Q PR	3466_2:228883024-228883024 C>T_GIAGEDTKSPQHNENECRASSEGQR
10:61083817-61083817 C>T	0.0	3466	MELANOMA	-	-	-	-	FAM13C	uc001jko.3,p.G125E|ENST00000435852,p.G125E|NM_001001971,p.G125E|ENST00000422313,p.G125E|ENST00000373867,p.G42E|ENST00000373868,p.G125E|uc010qif.1,p.G147E|uc010qid.2,p.G42E|uc010qie.2,p.G42E|NM_001166698,p.G42E|NM_001143773,p.G42E|ENST00000468840,p.G42E|ENST00000277705,p.G125E|ENST00000419214,p.G125E|ENST00000442566,p.G125E|uc001jkn.3,p.G125E|uc001jkp.3,p.G42E|NM_198215,p.G125E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qif.1	nonsynonymous SNV	exon4	c.G440A	p.G147E	VVSSQSECQVRAGTPAHESPQNNAF	VVSSQSECQVRAETPAHESPQNNAF	3.0	4.0	unscreened	-	3466_10:61083817-61083817 C>T_VVSSQSECQVRAETPAHESPQNNAF
4:145032548-145032548 C>T	0.0	3466	MELANOMA	-	-	-	-	GYPA	uc031she.1,p.E92K|uc031shj.1,p.E125K	retained_intron, protein_coding, nonsense_mediated_decay	uc031shj.1	nonsynonymous SNV	exon6	c.G373A	p.E125K	GIRRLIKRQVINENLFTKPNVERTQ	GIRRLIKRQVINKNLFTKPNVERTQ	1.0	4.0	unscreened	-	3466_4:145032548-145032548 C>T_GIRRLIKRQVINKNLFTKPNVERTQ
3:170875281-170875281 C>T	1.0	3466	MELANOMA	-	-	-	-	TNIK	ENST00000538048,p.E397K|NM_001161563,p.E397K|ENST00000475336,p.E397K|ENST00000369326,p.E397K|ENST00000470834,p.E397K|uc003fhh.2,p.E397K|ENST00000357327,p.E397K|NM_015028,p.E397K|ENST00000341852,p.E397K|NM_001161564,p.E397K|NM_001161562,p.E397K|ENST00000284483,p.E397K|NM_001161566,p.E397K|NM_001161565,p.E397K|uc003fhj.2,p.E397K|uc003fhl.2,p.E397K|ENST00000436636,p.E397K|uc003fhi.2,p.E397K|uc003fho.2,p.E397K|ENST00000460047,p.E397K|uc003fhn.2,p.E397K|NM_001161561,p.E397K|uc003fhk.2,p.E397K|NM_001161560,p.E397K|ENST00000488470,p.E397K|uc003fhm.2,p.E397K	retained_intron, protein_coding, processed_transcript	uc003fho.2	nonsynonymous SNV	exon12	c.G1189A	p.E397K	RQLLAERQKRIEEQKEQRRRLEEQQ	RQLLAERQKRIEKQKEQRRRLEEQQ	9.0	5.0	-	-	3466_3:170875281-170875281 C>T_RQLLAERQKRIEKQKEQRRRLEEQQ
16:20432653-20432653 A>T	0.0	3466	MELANOMA	-	-	-	-	ACSM5	ENST00000573920,p.T20S|uc002dhe.3,p.T233S|ENST00000331849,p.T233S|NM_017888,p.T233S	retained_intron, protein_coding, nonsense_mediated_decay	uc002dhe.3	nonsynonymous SNV	exon5	c.A697T	p.T233S	SRDPLAIYFTSGTTGAPKMVEHSQS	SRDPLAIYFTSGSTGAPKMVEHSQS	1.0	4.0	-	-	3466_16:20432653-20432653 A>T_SRDPLAIYFTSGSTGAPKMVEHSQS
10:87379690-87379690 A>T	0.0	3466	MELANOMA	-	-	-	-	GRID1	ENST00000536331,p.I336N|NM_017551,p.I765N|ENST00000327946,p.I765N|uc001kdl.1,p.I765N|uc010qmf.1,p.I336N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qmf.1	nonsynonymous SNV	exon7	c.T1007A	p.I336N	DDDCSVTVIGNSISSKGYGIALQHG	DDDCSVTVIGNSNSSKGYGIALQHG	3.0	4.0	unscreened	-	3466_10:87379690-87379690 A>T_DDDCSVTVIGNSNSSKGYGIALQHG
11:66193446-66193446 G>A	0.0	3466	MELANOMA	-	-	-	-	NPAS4	NM_178864,p.E799K|uc001ohx.1,p.E799K|uc010rpc.1,p.E589K|ENST00000311034,p.E799K	retained_intron, protein_coding, nonsense_mediated_decay	uc010rpc.1	nonsynonymous SNV	exon7	c.G1765A	p.E589K	VQDSFHEDGSGGEPTF	VQDSFHEDGSGGKPTF	1.0	4.0	unscreened	-	3466_11:66193446-66193446 G>A_VQDSFHEDGSGGKPTF
10:135379003-135379003 C>T	0.0	3466	MELANOMA	-	-	-	-	SYCE1	uc001lno.2,p.E11K|uc031pxt.1,p.E11K|ENST00000343131,p.E11K|NM_001143763,p.E11K|ENST00000303903,p.E11K|NM_001143764,p.E11K|uc009ybn.2,p.E11K	protein_coding, processed_transcript	uc031pxt.1	nonsynonymous SNV	exon1	c.G31A	p.E11K	MAGRSLTSKAEPTAGAVDRAEKA	MAGRSLTSKAKPTAGAVDRAEKA	1.0	5.0	unscreened	-	3466_10:135379003-135379003 C>T_MAGRSLTSKAKPTAGAVDRAEKA
12:18656292-18656292 G>A	0.0	3466	MELANOMA	-	-	-	-	PIK3C2G	uc010sib.2,p.E1032K|ENST00000266497,p.E991K|NM_004570,p.E991K|ENST00000433979,p.E991K|NM_001288774,p.E810K|NM_001288772,p.E1032K|uc001rdt.3,p.E991K|ENST00000538779,p.E1032K|uc010sic.2,p.E810K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010sic.2	nonsynonymous SNV	exon22	c.G2428A	p.E810K	IHRHSGLIGPLKENTIKKWFSQHNH	IHRHSGLIGPLKKNTIKKWFSQHNH	1.0	6.0	unscreened	-	3466_12:18656292-18656292 G>A_IHRHSGLIGPLKKNTIKKWFSQHNH
2:179720995-179720995 C>T	0.0	3466	MELANOMA	-	-	-	-	CCDC141	uc002unf.1,p.E431K|ENST00000295723,p.E377K|ENST00000343876,p.E396K|uc002une.2,p.E952K|NM_173648,p.E952K|ENST00000420890,p.E952K	protein_coding, processed_transcript	uc002unf.1	nonsynonymous SNV	exon8	c.G1291A	p.E431K	LKYQIQQVDMYAEKMQALKRKMEKV	LKYQIQQVDMYAKKMQALKRKMEKV	3.0	7.0	unscreened	-	3466_2:179720995-179720995 C>T_LKYQIQQVDMYAKKMQALKRKMEKV
2:186655608-186655608 G>A	0.0	3466	MELANOMA	-	-	-	-	FSIP2	NM_173651,p.G1338R|uc002upl.3,p.G1338R|ENST00000424728,p.G1249R|ENST00000343098,p.G1338R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon16	c.G4012A	p.G1338R	DVDPEKPPWLKSGKSEPKPVDDIND	DVDPEKPPWLKSRKSEPKPVDDIND	1.0	7.0	unscreened	-	3466_2:186655608-186655608 G>A_DVDPEKPPWLKSRKSEPKPVDDIND
3:108102533-108102533 T>C	0.0	3466	MELANOMA	-	-	-	-	MYH15	uc003dxa.1,p.Q1912R|ENST00000273353,p.Q1912R|NM_014981,p.Q1912R	retained_intron, protein_coding, processed_transcript	uc003dxa.1	nonsynonymous SNV	exon41	c.A5735G	p.Q1912R	QANQYLSKYKKQQHELNEVKERAEV	QANQYLSKYKKQRHELNEVKERAEV	1.0	5.0	unscreened	-	3466_3:108102533-108102533 T>C_QANQYLSKYKKQRHELNEVKERAEV
4:74357600-74357600 G>A	0.0	3466	MELANOMA	-	-	-	-	AFM	NM_001133,p.M285I|uc003hhb.3,p.M285I|ENST00000226355,p.M285I	retained_intron, protein_coding	uc003hhb.3	nonsynonymous SNV	exon8	c.G855A	p.M285I	DVVQCIRDTSKVMNHICSKQDSISS	DVVQCIRDTSKVINHICSKQDSISS	1.0	6.0	unscreened	-	3466_4:74357600-74357600 G>A_DVVQCIRDTSKVINHICSKQDSISS
3:119456274-119456274 G>A	0.0	3466	MELANOMA	-	-	-	-	MAATS1	uc011bjd.2,p.R343K|uc011bje.2,p.R449K|uc010hra.2,p.R230K|uc010hqz.3,p.R407K|ENST00000273390,p.R469K|NM_033364,p.R469K|uc010hqy.2,p.R469K|uc003ede.4,p.R469K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bje.2	nonsynonymous SNV	exon11	c.G1346A	p.R449K	VLEVKKPPRFLQRNPIPQPRLPTPT	VLEVKKPPRFLQKNPIPQPRLPTPT	2.0	5.0	unscreened	-	3466_3:119456274-119456274 G>A_VLEVKKPPRFLQKNPIPQPRLPTPT
2:187692920-187692920 C>T	0.0	3466	MELANOMA	-	-	ID=COSM233852;OCCURENCE=1(lung),2(skin)	-	ZSWIM2	ENST00000295131,p.E565K|uc002upu.1,p.E565K|NM_182521,p.E565K	protein_coding, nonsense_mediated_decay	uc002upu.1	nonsynonymous SNV	exon9	c.G1693A	p.E565K	HNLKKTPATKIREDNKRSTLLPEDF	HNLKKTPATKIRKDNKRSTLLPEDF	1.0	7.0	unscreened	-	3466_2:187692920-187692920 C>T_HNLKKTPATKIRKDNKRSTLLPEDF
3:130158402-130158402 C>A	0.0	3466	MELANOMA	-	-	-	-	COL6A5	NM_001278298,p.P1924T|uc010htj.2,p.P1924T|uc010htk.2,p.P1924T|ENST00000312481,p.P1924T|NM_153264,p.P1924T|ENST00000265379,p.P1924T|ENST00000432398,p.P1924T	protein_coding, nonsense_mediated_decay	uc010htk.2	nonsynonymous SNV	exon34	c.C5770A	p.P1924T	FDNTGTFQVIPVPPNGENQTLERLR	FDNTGTFQVIPVTPNGENQTLERLR	1.0	5.0	unscreened	-	3466_3:130158402-130158402 C>A_FDNTGTFQVIPVTPNGENQTLERLR
22:26165273-26165273 G>A	0.0	3466	MELANOMA	-	-	-	-	MYO18B	NM_032608,p.E464K|ENST00000407587,p.E464K|uc003aca.1,p.E345K|uc010guy.1,p.E345K|ENST00000539302,p.E464K|ENST00000335473,p.E464K|uc003abz.1,p.E464K|uc010guz.1,p.E345K|ENST00000536101,p.E464K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010guz.1	nonsynonymous SNV	exon2	c.G1033A	p.E345K	AGDGAGALETELEGPSQPALEKDAE	AGDGAGALETELKGPSQPALEKDAE	1.0	4.0	unscreened	-	3466_22:26165273-26165273 G>A_AGDGAGALETELKGPSQPALEKDAE
2:119735421-119735421 G>A	0.0	3466	MELANOMA	-	-	-	-	MARCO	ENST00000541757,p.G148R|uc002tln.1,p.G226R|ENST00000327097,p.G226R|NM_006770,p.G226R|uc010yyf.1,p.G148R	retained_intron, protein_coding	uc010yyf.1	nonsynonymous SNV	exon9	c.G442A	p.G148R	GKQGATGTPGPQGEKGSKGDGGLIG	GKQGATGTPGPQREKGSKGDGGLIG	3.0	7.0	unscreened	-	3466_2:119735421-119735421 G>A_GKQGATGTPGPQREKGSKGDGGLIG
2:113877654-113877654 G>A	0.0	3466	MELANOMA	-	-	-	-	IL1RN	NM_173841,p.E8K|ENST00000259206,p.E8K|uc002tiz.3,p.E8K	retained_intron, protein_coding, processed_transcript	uc002tiz.3	nonsynonymous SNV	exon2	c.G22A	p.E8K	MALADLYEEGGGGGGEGEDN	MALADLYKEGGGGGGEGEDN	3.0	7.0	unscreened	-	3466_2:113877654-113877654 G>A_MALADLYKEGGGGGGEGEDN
18:7231170-7231170 G>A	0.0	3466	MELANOMA	-	-	-	-	LRRC30	uc010wzk.2,p.D12N|NM_001105581,p.D12N|ENST00000383467,p.D12N	protein_coding	uc010wzk.2	nonsynonymous SNV	exon1	c.G34A	p.D12N	MGARQSRASSKDKGPKRMLFTGRR	MGARQSRASSKNKGPKRMLFTGRR	1.0	4.0	unscreened	-	3466_18:7231170-7231170 G>A_MGARQSRASSKNKGPKRMLFTGRR
16:51171420-51171420 C>T	0.0	3466	MELANOMA	-	-	-	-	SALL1	NM_001127892,p.R1096Q|ENST00000440970,p.R1096Q|uc021tif.1,p.R1096Q|ENST00000541611,p.R16Q|ENST00000251020,p.R1193Q|NM_002968,p.R1193Q|ENST00000570206,p.R1096Q|uc010cbv.3,p.R45Q	protein_coding, processed_transcript	uc021tif.1	nonsynonymous SNV	exon3	c.G3287A	p.R1096Q	MGTHMWNSTPARRGRRLSVDGPMTF	MGTHMWNSTPARQGRRLSVDGPMTF	1.0	6.0	unscreened	-	3466_16:51171420-51171420 C>T_MGTHMWNSTPARQGRRLSVDGPMTF
12:13828696-13828696 C>T	0.0	3466	MELANOMA	-	-	-	-	GRIN2B	NM_000834,p.E370K|uc001rbt.2,p.E370K|ENST00000279593,p.E370K	protein_coding	uc001rbt.2	nonsynonymous SNV	exon4	c.G1108A	p.E370K	MHPKLVIILLNKERKWERVGKWKDK	MHPKLVIILLNKKRKWERVGKWKDK	1.0	4.0	unscreened	-	3466_12:13828696-13828696 C>T_MHPKLVIILLNKKRKWERVGKWKDK
1:197390987-197390987 G>A	0.0	3466	MELANOMA	-	-	-	-	CRB1	NM_201253,p.E677K|uc010ppd.2,p.E158K|uc009wza.3,p.E565K|NM_001257965,p.E608K|uc001gub.1,p.E326K|ENST00000367400,p.E677K|ENST00000367397,p.E58K|NM_001193640,p.E565K|ENST00000484075,p.E677K|NM_001257966,p.E677K|uc010ppb.2,p.E677K|ENST00000535699,p.E608K|uc010poz.2,p.E608K|uc001gtz.3,p.E677K|ENST00000544212,p.E158K|ENST00000538660,p.E677K|ENST00000367399,p.E565K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ppd.2	nonsynonymous SNV	exon2	c.G472A	p.E158K	NVKAGCVRKDWCESQPCQSRGRCIN	NVKAGCVRKDWCKSQPCQSRGRCIN	1.0	7.0	unscreened	-	3466_1:197390987-197390987 G>A_NVKAGCVRKDWCKSQPCQSRGRCIN
11:66192525-66192525 C>T	0.0	3466	MELANOMA	-	-	-	-	NPAS4	NM_178864,p.P722S|uc010rpc.1,p.P512S|ENST00000311034,p.P722S|uc001ohx.1,p.P722S	retained_intron, protein_coding, nonsense_mediated_decay	uc010rpc.1	nonsynonymous SNV	exon6	c.C1534T	p.P512S	VEDIFMDLSTPDPSEEWGSGDPEAE	VEDIFMDLSTPDSSEEWGSGDPEAE	1.0	6.0	unscreened	-	3466_11:66192525-66192525 C>T_VEDIFMDLSTPDSSEEWGSGDPEAE
1:200869277-200869277 G>A	0.0	3466	MELANOMA	-	-	-	-	C1orf106	NM_001142569,p.E76K|ENST00000451872,p.E76K|uc001gvo.4,p.E175K|ENST00000413687,p.E76K|NM_018265,p.E175K|ENST00000367342,p.E161K|uc010ppm.2,p.E76K	protein_coding, processed_transcript	uc010ppm.2	nonsynonymous SNV	exon4	c.G226A	p.E76K	GTLPAEYPLKPGEKAPKVRRRIGAA	GTLPAEYPLKPGKKAPKVRRRIGAA	1.0	6.0	unscreened	-	3466_1:200869277-200869277 G>A_GTLPAEYPLKPGKKAPKVRRRIGAA
12:11546300-11546300 G>A	0.0	3466	MELANOMA	-	-	-	-	PRB2	ENST00000389362,p.P238S|NM_006248,p.P238S|uc010shk.1,p.P238S	protein_coding, processed_transcript	uc010shk.1	nonsynonymous SNV	exon3	c.C712T	p.P238S	PQGDNKSQSARSPPGKPQGPPPQGG	PQGDNKSQSARSSPGKPQGPPPQGG	1.0	3.0	unscreened	-	3466_12:11546300-11546300 G>A_PQGDNKSQSARSSPGKPQGPPPQGG
4:77662352-77662352 G>A	0.0	3466	MELANOMA	-	-	-	-	SHROOM3	uc003hkf.1,p.R884Q|uc011cbz.1,p.R833Q|uc011cbx.2,p.R1009Q|uc003hkg.3,p.R787Q|NM_020859,p.R1009Q|ENST00000296043,p.R1009Q	retained_intron, protein_coding, processed_transcript	uc011cbz.1	nonsynonymous SNV	exon4	c.G2498A	p.R833Q	RPVPPAARRGARRRLTPEQKKRSYS	RPVPPAARRGARQRLTPEQKKRSYS	1.0	4.0	unscreened	-	3466_4:77662352-77662352 G>A_RPVPPAARRGARQRLTPEQKKRSYS
1:156837972-156837972 G>A, 1:156837973-156837973 G>A	0.0	3466	MELANOMA	-	-	-	1	NTRK1	NM_001007792,p.G139R|ENST00000368196,p.G169R|NM_001012331,p.G169R|ENST00000392302,p.G139R|uc001fqf.1,p.G139R|uc009wsk.1,p.G169R|NM_002529,p.G169R|uc001fqi.1,p.G169R|ENST00000524377,p.G169R|uc001fqh.1,p.G169R|ENST00000358660,p.G169R|ENST00000497019,p.G139R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009wsk.1	nonsynonymous SNV	exon5	c.G505A	p.G169R	RWLQRWEEEGLGGVPEQKLQCHGQG	RWLQRWEEEGLGKVPEQKLQCHGQG	2.0	6.0	unscreened	Dinucleotide variant, 1:156837973-156837973 G>A, residue 13 G>K PR	3466_1:156837972-156837972 G>A, 1:156837973-156837973 G>A_RWLQRWEEEGLGKVPEQKLQCHGQG
15:73660527-73660527 C>T	0.0	3466	MELANOMA	-	-	-	-	HCN4	uc002avp.3,p.E29K|ENST00000261917,p.E29K|NM_005477,p.E29K	protein_coding	uc002avp.3	nonsynonymous SNV	exon1	c.G85A	p.E29K	QQVGAKAWIMDEEEDAEEEGAGGRQ	QQVGAKAWIMDEKEDAEEEGAGGRQ	1.0	4.0	unscreened	-	3466_15:73660527-73660527 C>T_QQVGAKAWIMDEKEDAEEEGAGGRQ
11:56757283-56757283 G>A	0.0	3466	MELANOMA	-	-	-	-	OR5AK2	ENST00000326855,p.E299K|NM_001005323,p.E299K|uc010rjp.2,p.E299K	protein_coding	uc010rjp.2	nonsynonymous SNV	exon1	c.G895A	p.E299K	PLIYSLRNKEVKEALKVIGKKLF	PLIYSLRNKEVKKALKVIGKKLF	1.0	5.0	unscreened	-	3466_11:56757283-56757283 G>A_PLIYSLRNKEVKKALKVIGKKLF
1:145561561-145561561 C>T	0.0	3466	MELANOMA	-	-	-	-	ANKRD35	ENST00000355594,p.H417Y|NM_001280799,p.H327Y|NM_144698,p.H417Y|uc001eob.1,p.H417Y|uc010oyx.1,p.H260Y	protein_coding	uc010oyx.1	nonsynonymous SNV	exon9	c.C778T	p.H260Y	EDSAPGKIQYEVHGRSQPEEQGPPQ	EDSAPGKIQYEVYGRSQPEEQGPPQ	1.0	4.0	unscreened	-	3466_1:145561561-145561561 C>T_EDSAPGKIQYEVYGRSQPEEQGPPQ
10:124457463-124457463 G>A	0.0	3466	MELANOMA	-	-	-	-	C10orf120	NM_001010912,p.S265L|ENST00000329446,p.S265L|uc001lgn.3,p.S265L	protein_coding	uc001lgn.3	nonsynonymous SNV	exon3	c.C794T	p.S265L	KKCLTYHGNDRKSFLPTKKPERSIA	KKCLTYHGNDRKLFLPTKKPERSIA	1.0	6.0	unscreened	Snp within 36 nucleotides, 10:124457452-124457452 C>T, residue 17 A>T PR	3466_10:124457463-124457463 G>A_KKCLTYHGNDRKLFLPTKKPERSIA
11:60183976-60183976 C>T	0.0	3466	MELANOMA	-	-	-	-	MS4A14	NM_001261827,p.S528F|NM_032597,p.S512F|uc001npl.3,p.S250F|uc001npk.3,p.S495F|NM_001261828,p.S545F|uc031qbd.1,p.S545F|uc031qbc.1,p.S250F|uc001npj.3,p.S512F|ENST00000531787,p.S400F|ENST00000300187,p.S512F|ENST00000395005,p.S495F|uc031qbe.1,p.S528F|uc001npm.3,p.S250F|uc001npi.3,p.S400F|NM_001079692,p.S495F|uc001npn.3,p.S250F|ENST00000531783,p.S545F	protein_coding, nonsense_mediated_decay	uc031qbe.1	nonsynonymous SNV	exon5	c.C1583T	p.S528F	RHSLDVQAKGQKSSKRHSLDQQSKG	RHSLDVQAKGQKFSKRHSLDQQSKG	4.0	4.0	unscreened	-	3466_11:60183976-60183976 C>T_RHSLDVQAKGQKFSKRHSLDQQSKG
14:65264476-65264476 C>T	0.0	3466	MELANOMA	-	-	-	-	SPTB	ENST00000556626,p.D385N|ENST00000542895,p.D385N|uc001xhr.3,p.D385N|ENST00000389720,p.D385N|NM_000347,p.D385N|uc001xht.3,p.D385N|ENST00000389721,p.D385N|ENST00000389722,p.D385N|NM_001024858,p.D385N|uc001xhs.3,p.D385N|uc001xhu.3,p.D385N	retained_intron, protein_coding, processed_transcript	uc001xhu.3	nonsynonymous SNV	exon10	c.G1153A	p.D385N	MRANNQKVYTPHDGKLVSDINRAWE	MRANNQKVYTPHNGKLVSDINRAWE	2.0	5.0	unscreened	-	3466_14:65264476-65264476 C>T_MRANNQKVYTPHNGKLVSDINRAWE
1:23857084-23857084 G>A	0.0	3466	MELANOMA	-	-	-	-	E2F2	uc001bhe.2,p.H68Y|ENST00000361729,p.H68Y|NM_004091,p.H68Y	protein_coding, processed_transcript	uc001bhe.2	nonsynonymous SNV	exon1	c.C202T	p.H68Y	AAAPGTCLDATPHGPEGQVVRCLPA	AAAPGTCLDATPYGPEGQVVRCLPA	3.0	5.0	unscreened	-	3466_1:23857084-23857084 G>A_AAAPGTCLDATPYGPEGQVVRCLPA
4:78087069-78087069 C>T	1.0	3466	MELANOMA	-	-	-	-	CCNG2	ENST00000395640,p.P343S|uc003hkn.4,p.P343S|ENST00000316355,p.P343S|uc003hkp.4,p.P343S|ENST00000502280,p.P343S|NM_004354,p.P343S|uc003hkq.4,p.P343S	protein_coding, processed_transcript	uc003hkq.4	nonsynonymous SNV	exon8	c.C1027T	p.P343S	FFNFKVAQTLCFPS	FFNFKVAQTLCFSS	8.0	4.0	unscreened	-	3466_4:78087069-78087069 C>T_FFNFKVAQTLCFSS
1:196918629-196918629 G>A	0.0	3466	MELANOMA	-	-	-	-	CFHR2	ENST00000367421,p.D35N|NM_005666,p.D35N|ENST00000367415,p.D35N|uc001gtq.1,p.D35N	protein_coding, processed_transcript	uc001gtq.1	nonsynonymous SNV	exon2	c.G103A	p.D35N	CDFPKINHGILYDEEKYKPFSQVPT	CDFPKINHGILYNEEKYKPFSQVPT	1.0	5.0	unscreened	-	3466_1:196918629-196918629 G>A_CDFPKINHGILYNEEKYKPFSQVPT
4:79328864-79328864 G>A	0.0	3466	MELANOMA	-	-	-	-	FRAS1	uc003hlb.2,p.E1393K|uc003hkw.3,p.E1393K|ENST00000264895,p.E1393K|NM_025074,p.E1393K|ENST00000325942,p.E1393K|NM_001166133,p.E1393K	retained_intron, protein_coding, nonsense_mediated_decay	uc003hlb.2	nonsynonymous SNV	exon31	c.G4177A	p.E1393K	LLVNMPADSPADEGQHLPDGRTATP	LLVNMPADSPADKGQHLPDGRTATP	1.0	4.0	unscreened	-	3466_4:79328864-79328864 G>A_LLVNMPADSPADKGQHLPDGRTATP
3:12228874-12228874 C>T	0.0	3466	MELANOMA	-	-	-	-	SYN2	uc003bwn.3,p.P133S	retained_intron, protein_coding, processed_transcript, polymorphic_pseudogene	uc003bwn.3	nonsynonymous SNV	exon9	c.C397T	p.P133S	KTPPQRPPPQGGPGQPQGMQPPGKV	KTPPQRPPPQGGSGQPQGMQPPGKV	1.0	6.0	unscreened	-	3466_3:12228874-12228874 C>T_KTPPQRPPPQGGSGQPQGMQPPGKV
1:86581034-86581034 C>T	0.0	3466	MELANOMA	-	-	-	-	COL24A1	NM_152890,p.G507S|ENST00000370571,p.G507S|uc009wcq.3,p.G507S|uc001dlj.3,p.G507S|ENST00000426639,p.G507S|ENST00000436319,p.G507S	protein_coding, processed_transcript, nonsense_mediated_decay	uc009wcq.3	nonsynonymous SNV	exon4	c.G1519A	p.G507S	GPPGPPGPAGIPGPSGKRGPRGIPG	GPPGPPGPAGIPSPSGKRGPRGIPG	2.0	6.0	unscreened	-	3466_1:86581034-86581034 C>T_GPPGPPGPAGIPSPSGKRGPRGIPG
10:70332469-70332469 C>T	0.0	3466	MELANOMA	-	-	-	1	TET1	ENST00000373644,p.S125F|uc001jok.4,p.S125F|NM_030625,p.S125F	protein_coding	uc001jok.4	nonsynonymous SNV	exon2	c.C374T	p.S125F	RRLSQPPLVVAKSKKVPLSKGLEKQ	RRLSQPPLVVAKFKKVPLSKGLEKQ	3.0	5.0	unscreened	-	3466_10:70332469-70332469 C>T_RRLSQPPLVVAKFKKVPLSKGLEKQ
3:51975855-51975855 C>T	1.0	3466	MELANOMA	-	-	-	-	RRP9	NM_004704,p.R10Q|uc003dbw.2,p.R10Q|ENST00000232888,p.R10Q	protein_coding	uc003dbw.2	nonsynonymous SNV	exon1	c.G29A	p.R10Q	MSATAAARKRGKPASGAGAGAG	MSATAAARKQGKPASGAGAGAG	3.0	4.0	unscreened	-	3466_3:51975855-51975855 C>T_MSATAAARKQGKPASGAGAGAG
14:60976579-60976579 C>T	0.0	3466	MELANOMA	-	-	-	-	SIX6	NM_007374,p.P155S|ENST00000327720,p.P155S|uc001xfa.4,p.P155S	protein_coding	uc001xfa.4	nonsynonymous SNV	exon1	c.C463T	p.P155S	LREWYLQDPYPNPSKKRELAQATGL	LREWYLQDPYPNSSKKRELAQATGL	1.0	4.0	unscreened	-	3466_14:60976579-60976579 C>T_LREWYLQDPYPNSSKKRELAQATGL
20:3674148-3674148 C>T	0.0	3466	MELANOMA	-	-	-	-	SIGLEC1	NM_023068,p.G1152S|uc002wja.3,p.G1152S|ENST00000344754,p.G1152S|uc002wiz.4,p.G1152S|ENST00000202578,p.G1152S	protein_coding	uc002wja.3	nonsynonymous SNV	exon13	c.G3454A	p.G1152S	TVRDATSYRCGVGPPGRAPRLSRPI	TVRDATSYRCGVSPPGRAPRLSRPI	4.0	6.0	unscreened	-	3466_20:3674148-3674148 C>T_TVRDATSYRCGVSPPGRAPRLSRPI
19:50251672-50251672 C>T	0.0	3466	MELANOMA	-	-	-	-	TSKS	ENST00000246801,p.E152K|uc002ppm.3,p.E152K|NM_021733,p.E152K	retained_intron, protein_coding	uc002ppm.3	nonsynonymous SNV	exon3	c.G454A	p.E152K	LVRAKDSITSLKEKTNRVNQHVQSL	LVRAKDSITSLKKKTNRVNQHVQSL	1.0	6.0	unscreened	-	3466_19:50251672-50251672 C>T_LVRAKDSITSLKKKTNRVNQHVQSL
5:36985923-36985923 C>T	1.0	3466	MELANOMA	-	-	-	-	NIPBL	ENST00000282516,p.P881S|uc003jkm.1,p.P760S|NM_015384,p.P881S|ENST00000448238,p.P881S|uc003jkl.4,p.P881S|uc003jkk.4,p.P881S|NM_133433,p.P881S	retained_intron, protein_coding, processed_transcript	uc003jkm.1	nonsynonymous SNV	exon6	c.C2278T	p.P760S	KHRHESGDSRERPSSGEQKSRPDSP	KHRHESGDSRERSSSGEQKSRPDSP	10.0	6.0	-	-	3466_5:36985923-36985923 C>T_KHRHESGDSRERSSSGEQKSRPDSP
12:33031877-33031877 G>A	0.0	3466	MELANOMA	-	-	-	-	PKP2	ENST00000340811,p.P105S|uc001rlk.4,p.P105S|ENST00000070846,p.P105S|NM_001005242,p.P105S|NM_004572,p.P105S|uc001rlj.4,p.P105S|uc010skj.2,p.P105S	retained_intron, protein_coding, processed_transcript	uc010skj.2	nonsynonymous SNV	exon2	c.C313T	p.P105S	VENDFVGGRSPVPKTYDMLKAGTTA	VENDFVGGRSPVSKTYDMLKAGTTA	1.0	6.0	unscreened	-	3466_12:33031877-33031877 G>A_VENDFVGGRSPVSKTYDMLKAGTTA
2:14774977-14774977 G>A	0.0	3466	MELANOMA	-	-	-	-	FAM84A	ENST00000331243,p.E292K|ENST00000295092,p.E292K|NM_145175,p.E292K|uc021ved.1,p.E292K|uc002rbz.2,p.E292K	protein_coding, processed_transcript	uc021ved.1	nonsynonymous SNV	exon1	c.G874A	p.E292K	VLQELADLVDDKE	VLQELADLVDDKK	4.0	3.0	unscreened	-	3466_2:14774977-14774977 G>A_VLQELADLVDDKK
10:96818163-96818163 C>T	0.0	3466	MELANOMA	-	-	-	2	CYP2C8	uc001kkb.3,p.E250K|NM_001198853,p.E180K|uc021pwl.1,p.E180K|NM_000770,p.E250K|ENST00000539050,p.E164K|ENST00000535898,p.E148K|NM_001198854,p.E148K|ENST00000371270,p.E250K|uc010qod.1,p.E164K|ENST00000527420,p.E250K|uc010qoc.2,p.E148K|NM_001198855,p.E180K|uc010qoa.2,p.E180K|uc010qob.2,p.E164K	retained_intron, protein_coding, nonsense_mediated_decay	uc021pwl.1	nonsynonymous SNV	exon6	c.G538A	p.E180K	ALTRSYIREKVKEHQASLDVNNPRD	ALTRSYIREKVKKHQASLDVNNPRD	1.0	5.0	unscreened	-	3466_10:96818163-96818163 C>T_ALTRSYIREKVKKHQASLDVNNPRD
1:2421235-2421235 G>A	0.0	3466	MELANOMA	-	-	-	-	PLCH2	ENST00000378488,p.E482K|ENST00000419816,p.E482K|ENST00000378486,p.E482K|uc001ajj.1,p.E270K|ENST00000449969,p.E455K|uc001ajk.1,p.E270K|uc009vle.1,p.E270K|uc010nyz.2,p.E270K|NM_014638,p.E482K	retained_intron, protein_coding, processed_transcript	uc010nyz.2	nonsynonymous SNV	exon7	c.G808A	p.E270K	GKKLPANISEDAEEGEVSDEDSADE	GKKLPANISEDAKEGEVSDEDSADE	2.0	5.0	unscreened	-	3466_1:2421235-2421235 G>A_GKKLPANISEDAKEGEVSDEDSADE
3:168833856-168833856 C>T	0.0	3466	MELANOMA	-	-	-	1	MECOM	NM_001105078,p.E414K|ENST00000464456,p.E414K|ENST00000494292,p.E602K|uc003ffl.2,p.E574K|ENST00000392736,p.E414K|ENST00000264674,p.E479K|NM_001164000,p.E414K|ENST00000468789,p.E414K|uc010hwn.2,p.E602K|ENST00000460814,p.E414K|NM_001163999,p.E415K|uc011bpk.1,p.E414K|uc003ffi.3,p.E414K|uc003ffn.3,p.E414K|uc011bpj.1,p.E602K|NM_004991,p.E602K|NM_001105077,p.E479K|uc010hwk.1,p.E437K|ENST00000433243,p.E415K|ENST00000472280,p.E415K|uc003ffj.3,p.E479K|uc003ffk.2,p.E414K|NM_005241,p.E414K|uc011bpi.1,p.E415K|NM_001205194,p.E414K	retained_intron, protein_coding, processed_transcript	uc011bpk.1	nonsynonymous SNV	exon7	c.G1240A	p.E414K	GSDLETTSGSDLESDIESDKEKFKE	GSDLETTSGSDLKSDIESDKEKFKE	5.0	5.0	unscreened	-	3466_3:168833856-168833856 C>T_GSDLETTSGSDLKSDIESDKEKFKE
1:87025711-87025711 G>A	0.0	3466	MELANOMA	-	-	-	-	CLCA4	ENST00000370563,p.E86K|uc009wcs.3,p.E86K|NM_012128,p.E86K	protein_coding, processed_transcript	uc009wcs.3	nonsynonymous SNV	exon2	c.G256A	p.E86K	KNVSILIPENWKENPQYKRPKHENH	KNVSILIPENWKKNPQYKRPKHENH	1.0	6.0	unscreened	-	3466_1:87025711-87025711 G>A_KNVSILIPENWKKNPQYKRPKHENH
10:71678837-71678837 G>A	1.0	3466	MELANOMA	-	-	-	-	COL13A1	ENST00000398969,p.G293E|NM_080802,p.G328E|ENST00000398973,p.G350E|ENST00000398971,p.G350E|ENST00000398964,p.G321E|ENST00000398974,p.G338E|ENST00000357811,p.G328E|NM_080805,p.G299E|uc021prz.1,p.G328E|ENST00000398966,p.G328E|uc021psc.1,p.G331E|ENST00000398968,p.G331E|uc021psd.1,p.G328E|uc001jqk.2,p.G328E|NM_080801,p.G328E|ENST00000398978,p.G350E|ENST00000522165,p.G331E|ENST00000479733,p.G359E|uc010qjf.2,p.G293E|uc001jql.3,p.G350E|NM_080800,p.G331E|ENST00000398972,p.G350E|uc021psg.1,p.G328E|uc021psa.1,p.G293E|ENST00000520267,p.G293E|uc021pse.1,p.G299E|ENST00000356340,p.G350E|NM_001130103,p.G350E|uc021psh.1,p.G331E|ENST00000517713,p.G328E|uc021psf.1,p.G350E|ENST00000520133,p.G299E|NM_080798,p.G293E|uc021psb.1,p.G299E|ENST00000354547,p.G328E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021psh.1	nonsynonymous SNV	exon19	c.G992A	p.G331E	AVAGMKGEPGIPGTKGEKGAEGSPG	AVAGMKGEPGIPETKGEKGAEGSPG	6.0	5.0	unscreened	-	3466_10:71678837-71678837 G>A_AVAGMKGEPGIPETKGEKGAEGSPG
18:43310340-43310340 G>A	1.0	3466	MELANOMA	-	-	-	-	SLC14A1	ENST00000589891,p.E75K|uc002lbj.4,p.E75K|ENST00000586951,p.E19K|NM_001146037,p.E75K|ENST00000586142,p.E19K|ENST00000436407,p.E75K|uc021ujg.1,p.E19K|ENST00000586056,p.E19K|ENST00000321925,p.E19K|ENST00000588179,p.E75K|ENST00000589700,p.E19K|uc002lbf.4,p.E19K|NM_001146036,p.E19K|ENST00000415427,p.E75K|uc010xcn.2,p.E19K|uc010dnk.3,p.E75K|NM_001128588,p.E75K|uc002lbk.4,p.E19K|NM_015865,p.E19K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ujg.1	nonsynonymous SNV	exon1	c.G55A	p.E19K	MVRVDSPTMVRGENQVSPCQGRRCF	MVRVDSPTMVRGKNQVSPCQGRRCF	4.0	6.0	-	-	3466_18:43310340-43310340 G>A_MVRVDSPTMVRGKNQVSPCQGRRCF
3:155222354-155222354 C>T	0.0	3466	MELANOMA	-	-	-	-	PLCH1	ENST00000414191,p.G535E|ENST00000447496,p.G553E|ENST00000334686,p.G535E|uc021xgd.1,p.G553E|ENST00000460012,p.G535E|uc021xge.1,p.G553E|NM_014996,p.G535E|uc021xgf.1,p.G535E|ENST00000494598,p.G553E|NM_001130960,p.G553E|NM_001130961,p.G553E|ENST00000340059,p.G553E	retained_intron, protein_coding	uc021xgf.1	nonsynonymous SNV	exon12	c.G1604A	p.G535E	KKSHGRSLMTNFGKHKKTTKSRSKS	KKSHGRSLMTNFEKHKKTTKSRSKS	2.0	5.0	unscreened	-	3466_3:155222354-155222354 C>T_KKSHGRSLMTNFEKHKKTTKSRSKS
3:65342535-65342535 C>T	0.0	3466	MELANOMA	-	-	-	-	MAGI1	ENST00000402939,p.G1303R|uc003dmn.3,p.G1303R|NM_001033057,p.G1303R	retained_intron, protein_coding, processed_transcript	uc003dmn.3	nonsynonymous SNV	exon23	c.G3907A	p.G1303R	SGACRPKDRAPEGRRDAQAERAAAA	SGACRPKDRAPERRRDAQAERAAAA	4.0	5.0	unscreened	-	3466_3:65342535-65342535 C>T_SGACRPKDRAPERRRDAQAERAAAA
15:34080547-34080547 G>A	0.0	3466	MELANOMA	-	-	-	-	RYR3	NM_001036,p.G3240S|ENST00000389232,p.G3240S|NM_001243996,p.G3240S|uc001zhi.3,p.G3240S|uc010bar.3,p.G3240S|ENST00000415757,p.G3240S	retained_intron, protein_coding, processed_transcript	uc010bar.3	nonsynonymous SNV	exon67	c.G9718A	p.G3240S	KTVQEEEQLKADGKGDTQEAELLIL	KTVQEEEQLKADSKGDTQEAELLIL	1.0	5.0	unscreened	-	3466_15:34080547-34080547 G>A_KTVQEEEQLKADSKGDTQEAELLIL
14:24798608-24798608 C>T	0.0	3466	MELANOMA	-	-	-	-	ADCY4	NM_001198568,p.R450Q|ENST00000310677,p.R450Q|uc001wow.3,p.R450Q|ENST00000554068,p.R450Q|NM_139247,p.R450Q|uc001wox.3,p.R450Q|ENST00000396747,p.R143Q|uc001woy.3,p.R450Q|ENST00000418030,p.R450Q|uc010toh.2,p.R136Q|NM_001198592,p.R450Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010toh.2	nonsynonymous SNV	exon9	c.G407A	p.R136Q	ELGEPTYLVIDPRAEEEDEKGTAGG	ELGEPTYLVIDPQAEEEDEKGTAGG	4.0	6.0	unscreened	-	3466_14:24798608-24798608 C>T_ELGEPTYLVIDPQAEEEDEKGTAGG
2:170030474-170030474 C>T	0.0	3466	MELANOMA	-	-	-	-	LRP2	NM_004525,p.D3657N|uc002ues.3,p.D3657N|ENST00000263816,p.D3657N	retained_intron, protein_coding, processed_transcript	uc002ues.3	nonsynonymous SNV	exon56	c.G10969A	p.D3657N	GRCIPQAWKCDVDNDCGDHSDEPIE	GRCIPQAWKCDVNNDCGDHSDEPIE	1.0	6.0	unscreened	-	3466_2:170030474-170030474 C>T_GRCIPQAWKCDVNNDCGDHSDEPIE
3:111950327-111950327 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1693200;OCCURENCE=1(skin)	-	SLC9C1	uc003dyu.3,p.E485K|uc010hqc.3,p.E437K|NM_183061,p.E485K|ENST00000487372,p.E437K|ENST00000305815,p.E485K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010hqc.3	nonsynonymous SNV	exon12	c.G1309A	p.E437K	KAITLENPYMLNEEETTEHQKVKCP	KAITLENPYMLNKEETTEHQKVKCP	3.0	5.0	unscreened	-	3466_3:111950327-111950327 C>T_KAITLENPYMLNKEETTEHQKVKCP
18:57103196-57103196 G>A	0.0	3466	MELANOMA	-	-	-	-	CCBE1	ENST00000439986,p.H389Y|uc010dpq.3,p.H118Y|uc002lia.3,p.H242Y|uc002lib.3,p.H389Y|NM_133459,p.H389Y|ENST00000398179,p.H118Y	retained_intron, protein_coding	uc010dpq.3	nonsynonymous SNV	exon5	c.C352T	p.H118Y	YPEAMDLGSGDDHPRRTETRDLRAP	YPEAMDLGSGDDYPRRTETRDLRAP	2.0	5.0	unscreened	-	3466_18:57103196-57103196 G>A_YPEAMDLGSGDDYPRRTETRDLRAP
20:57876629-57876629 G>A	0.0	3466	MELANOMA	-	-	ID=COSM3707885,COSM3707884,COSM3707886;OCCURENCE=2(liver)	-	EDN3	ENST00000371025,p.G73S|NM_207033,p.G73S|ENST00000337938,p.G73S|uc002yaq.3,p.G73S|NM_000114,p.G73S|ENST00000311585,p.G73S|uc002yap.3,p.G73S|uc002yar.3,p.G73S|NM_207034,p.G73S|ENST00000395654,p.G73S|uc002yas.3,p.G73S|ENST00000371028,p.G73S|uc002yao.1,p.G73S|NM_207032,p.G73S	protein_coding	uc002yas.3	nonsynonymous SNV	exon2	c.G217A	p.G73S	PGEGTVAPTALQGPSPGSPGQEQAA	PGEGTVAPTALQSPSPGSPGQEQAA	1.0	6.0	unscreened	-	3466_20:57876629-57876629 G>A_PGEGTVAPTALQSPSPGSPGQEQAA
3:12228874-12228874 C>T	0.0	3466	MELANOMA	-	-	-	-	SYN2	uc003bwm.3,p.P455S	retained_intron, protein_coding, processed_transcript, polymorphic_pseudogene	uc003bwm.3	nonsynonymous SNV	exon15	c.C1363T	p.P455S	PDSSKTPPQRPPPQGGPGQPQGMQP	PDSSKTPPQRPPSQGGPGQPQGMQP	1.0	6.0	unscreened	-	3466_3:12228874-12228874 C>T_PDSSKTPPQRPPSQGGPGQPQGMQP
11:102668153-102668153 C>T	0.0	3466	MELANOMA	-	-	-	-	MMP1	uc001phi.2,p.E62K|NM_002421,p.E62K|ENST00000315274,p.E62K	protein_coding	uc001phi.2	nonsynonymous SNV	exon2	c.G184A	p.E62K	QVEKRRNSGPVVEKLKQMQEFFGLK	QVEKRRNSGPVVKKLKQMQEFFGLK	1.0	6.0	unscreened	-	3466_11:102668153-102668153 C>T_QVEKRRNSGPVVKKLKQMQEFFGLK
22:40042854-40042854 C>T	0.0	3466	MELANOMA	-	-	-	-	CACNA1I	uc003ayd.3,p.P477L|ENST00000404898,p.P477L|uc003ayf.3,p.P392L|ENST00000400164,p.P477L|ENST00000407673,p.P477L|NM_001003406,p.P477L	protein_coding, processed_transcript	uc003ayf.3	nonsynonymous SNV	exon7	c.C1175T	p.P392L	QALGPEAPAPAKPGPHAKEPRHYQL	QALGPEAPAPAKLGPHAKEPRHYQL	1.0	5.0	unscreened	-	3466_22:40042854-40042854 C>T_QALGPEAPAPAKLGPHAKEPRHYQL
1:152279563-152279563 C>T	1.0	3466	MELANOMA	-	-	-	-	FLG	ENST00000368799,p.R2600K|NM_002016,p.R2600K|uc001ezu.1,p.R2600K	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.G7799A	p.R2600K	SRNHHGSAQEQLRDGSRHPRSHQED	SRNHHGSAQEQLKDGSRHPRSHQED	1.0	5.0	unscreened	-	3466_1:152279563-152279563 C>T_SRNHHGSAQEQLKDGSRHPRSHQED
22:40042854-40042854 C>T	0.0	3466	MELANOMA	-	-	-	-	CACNA1I	uc003ayc.3,p.P477L|NM_021096,p.P477L|ENST00000402142,p.P477L|uc003aye.3,p.P392L|ENST00000401624,p.P477L|ENST00000336649,p.P477L	protein_coding, processed_transcript	uc003aye.3	nonsynonymous SNV	exon7	c.C1175T	p.P392L	QALGPEAPAPAKPGPHAKEPRHYHG	QALGPEAPAPAKLGPHAKEPRHYHG	1.0	5.0	unscreened	-	3466_22:40042854-40042854 C>T_QALGPEAPAPAKLGPHAKEPRHYHG
14:52899207-52899207 G>A	1.0	3466	MELANOMA	-	-	-	-	TXNDC16	NM_001160047,p.P760S|ENST00000281741,p.P765S|uc010tqu.2,p.P760S|NM_020784,p.P765S|uc001wzs.3,p.P765S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tqu.2	nonsynonymous SNV	exon21	c.C2278T	p.P760S	DAATSQRGTRKVPKCMKETDVQEND	DAATSQRGTRKVSKCMKETDVQEND	5.0	4.0	unscreened	-	3466_14:52899207-52899207 G>A_DAATSQRGTRKVSKCMKETDVQEND
12:7842491-7842491 C>T	0.0	3466	MELANOMA	-	-	-	-	GDF3	ENST00000329913,p.E360K|NM_020634,p.E360K|uc001qte.3,p.E360K	protein_coding	uc001qte.3	nonsynonymous SNV	exon2	c.G1078A	p.E360K	VILRHYEDMVVDECGCG	VILRHYEDMVVDKCGCG	1.0	4.0	unscreened	-	3466_12:7842491-7842491 C>T_VILRHYEDMVVDKCGCG
10:96709000-96709000 C>T, 10:96709003-96709003 C>T	0.0	3466	MELANOMA	-	-	-	-	CYP2C9	ENST00000260682,p.P260S|NM_000771,p.P260S|uc009xut.3,p.P260S|uc001kka.4,p.P260S	protein_coding, processed_transcript	uc009xut.3	nonsynonymous SNV	exon5	c.C778T	p.P260S	VKEHQESMDMNNPQDFIDCFLMKME	VKEHQESMDMNNS	1.0	7.0	unscreened	Additional variant within 36 nucleotides, 10:96709003-96709003 C>T, residue 14 Q>X	3466_10:96709000-96709000 C>T, 10:96709003-96709003 C>T_VKEHQESMDMNNS
16:57954342-57954342 C>T	0.0	3466	MELANOMA	-	-	-	-	CNGB1	uc010cdh.2,p.E578K|ENST00000564448,p.E578K|NM_001286130,p.E578K|NM_001297,p.E584K|ENST00000251102,p.E584K|uc002emt.2,p.E584K	retained_intron, protein_coding, processed_transcript	uc010cdh.2	nonsynonymous SNV	exon19	c.G1732A	p.E578K	VKLFKERTEKVKEKLIDPDVTSDEE	VKLFKERTEKVKKKLIDPDVTSDEE	1.0	5.0	unscreened	-	3466_16:57954342-57954342 C>T_VKLFKERTEKVKKKLIDPDVTSDEE
3:151105838-151105838 C>T	0.0	3466	MELANOMA	-	-	-	-	MED12L	uc003eyp.3,p.P1742S|uc011bnz.2,p.P1602S|NM_053002,p.P1742S|ENST00000474524,p.P1742S|ENST00000273432,p.P1602S|uc003eyy.1,p.P905S	protein_coding, processed_transcript	uc011bnz.2	nonsynonymous SNV	exon33	c.C4804T	p.P1602S	LPPEEEEEEPTSPVSQEPERKSAEL	LPPEEEEEEPTSSVSQEPERKSAEL	3.0	5.0	unscreened	-	3466_3:151105838-151105838 C>T_LPPEEEEEEPTSSVSQEPERKSAEL
3:57233910-57233910 C>T	0.0	3466	MELANOMA	-	-	-	-	HESX1	NM_003865,p.E13K|ENST00000295934,p.E13K|ENST00000473921,p.E13K|uc003din.4,p.E13K|ENST00000495160,p.E13K	protein_coding	uc003din.4	nonsynonymous SNV	exon1	c.G37A	p.E13K	MSPSLQEGAQLGENKPSTCSFSIER	MSPSLQEGAQLGKNKPSTCSFSIER	1.0	4.0	unscreened	-	3466_3:57233910-57233910 C>T_MSPSLQEGAQLGKNKPSTCSFSIER
2:79312367-79312367 G>A	0.0	3466	MELANOMA	-	-	-	-	REG1B	ENST00000454188,p.P139S	retained_intron, protein_coding	ENST00000454188	nonsynonymous SNV	exon4	c.C415T	p.P139S	RNGRMNLVRRSSPLFASSKTRGS	RNGRMNLVRRSSSLFASSKTRGS	1.0	6.0	unscreened	-	3466_2:79312367-79312367 G>A_RNGRMNLVRRSSSLFASSKTRGS
3:65377016-65377016 T>A	1.0	3466	MELANOMA	-	-	-	-	MAGI1	uc010hnx.1,p.K22N	retained_intron, protein_coding, processed_transcript	uc010hnx.1	nonsynonymous SNV	exon2	c.A66T	p.K22N	GLFFKEKQPLERKDSQNSSQHSVSS	GLFFKEKQPLERNDSQNSSQHSVSS	4.0	5.0	unscreened	-	3466_3:65377016-65377016 T>A_GLFFKEKQPLERNDSQNSSQHSVSS
3:38622577-38622577 C>T	0.0	3466	MELANOMA	-	-	-	-	SCN5A	uc021wvw.1,p.E636K|ENST00000413689,p.E1025K|ENST00000443581,p.E1025K|uc021wvn.1,p.E1025K|ENST00000423572,p.E1025K|ENST00000425664,p.E1025K|ENST00000449557,p.E1025K|uc021wvu.1,p.E1025K|ENST00000455624,p.E1025K|NM_001160161,p.E1025K|uc021wvr.1,p.E1025K|uc021wvi.1,p.E891K|ENST00000333535,p.E1025K|uc021wvm.1,p.E1025K|NM_198056,p.E1025K|NM_001160160,p.E1025K|ENST00000450102,p.E1025K|uc021wvq.1,p.E1025K|uc021wvp.1,p.E1025K|uc021wvt.1,p.E1025K|ENST00000451551,p.E1025K|NM_001099405,p.E1025K|uc021wvk.1,p.E1025K|uc021wvv.1,p.E1025K|uc021wvs.1,p.E1025K|NM_000335,p.E1025K|uc021wvl.1,p.E1025K|NM_001099404,p.E1025K|uc021wvj.1,p.E891K|ENST00000414099,p.E1025K|uc021wvo.1,p.E1025K	retained_intron, protein_coding, processed_transcript	uc021wvw.1	nonsynonymous SNV	exon8	c.G1906A	p.E636K	PPETEKVPPTRKETRFEEGEQPGQG	PPETEKVPPTRKKTRFEEGEQPGQG	1.0	5.0	unscreened	-	3466_3:38622577-38622577 C>T_PPETEKVPPTRKKTRFEEGEQPGQG
18:30873167-30873167 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1711186,COSM1711187;OCCURENCE=1(skin)	-	CCDC178	NM_198995,p.E378K|ENST00000406524,p.E378K|ENST00000402325,p.E378K|uc002kxp.3,p.E378K|ENST00000579947,p.E378K|uc002kxn.2,p.E378K|ENST00000403303,p.E378K|uc002kxo.2,p.E378K|NM_001105528,p.E378K|ENST00000383096,p.E378K|ENST00000300227,p.E378K|ENST00000583930,p.E378K|uc010xbr.1,p.E378K	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc010xbr.1	nonsynonymous SNV	exon11	c.G1132A	p.E378K	EEKEEEVTEAIRETKSSKNELHSLS	EEKEEEVTEAIRKTKSSKNELHSLS	1.0	5.0	unscreened	-	3466_18:30873167-30873167 C>T_EEKEEEVTEAIRKTKSSKNELHSLS
14:70518766-70518766 G>A	0.0	3466	MELANOMA	-	-	-	-	SLC8A3	ENST00000494208,p.A617V	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000494208	nonsynonymous SNV	exon3	c.C1850T	p.A617V	RRGGQEDSRDGKASIG	RRGGQEDSRDGKVSIG	1.0	5.0	unscreened	-	3466_14:70518766-70518766 G>A_RRGGQEDSRDGKVSIG
4:125593510-125593510 G>A, 4:125593511-125593511 T>A	1.0	3466	MELANOMA	-	-	-	-	ANKRD50	uc010inw.3,p.E307D|NM_001167882,p.E128D|uc011cgo.2,p.E128D|NM_020337,p.E307D|ENST00000504087,p.E307D|ENST00000515641,p.E128D	protein_coding	uc011cgo.2	nonsynonymous SNV	exon3	c.A384T	p.E128D	LHIKSSGCFLYLERVLDGVVENFIM	LHIKSSGCFLYLD	9.0	4.0	unscreened	Dinculeotide variant, 4:125593510-125593510 G>A, residue 14 R>X PR	3466_4:125593510-125593510 G>A, 4:125593511-125593511 T>A_LHIKSSGCFLYLD
3:65377016-65377016 T>A	1.0	3466	MELANOMA	-	-	-	-	MAGI1	ENST00000463103,p.K614N|uc003dmp.3,p.K739N|uc003dmn.3,p.K739N|uc003dmo.3,p.K739N|NM_015520,p.K739N|uc003dmm.3,p.K739N|NM_004742,p.K739N|ENST00000497477,p.K739N|ENST00000402939,p.K739N|NM_001033057,p.K739N|ENST00000330909,p.K739N|ENST00000472257,p.K525N|ENST00000483466,p.K739N	retained_intron, protein_coding, processed_transcript	uc003dmp.3	nonsynonymous SNV	exon14	c.A2217T	p.K739N	PKKSPKSQPLERKDSQNSSQHSVSS	PKKSPKSQPLERNDSQNSSQHSVSS	4.0	5.0	unscreened	-	3466_3:65377016-65377016 T>A_PKKSPKSQPLERNDSQNSSQHSVSS
1:53553768-53553768 G>A	0.0	3466	MELANOMA	-	-	-	-	SLC1A7	NM_001287597,p.R467C|uc021onm.1,p.R467C	protein_coding, processed_transcript	uc021onm.1	nonsynonymous SNV	exon10	c.C1399T	p.R467C	AHPGPHLPPPRPRSSGAG	AHPGPHLPPPRPCSSGAG	1.0	6.0	unscreened	Snp within 36 nucleotides, 1:53553754-53553754 T>C, residue 5 Q>P PR	3466_1:53553768-53553768 G>A_AHPGPHLPPPRPCSSGAG
15:32988799-32988799 G>A	1.0	3466	MELANOMA	-	-	-	-	SCG5	uc001zha.2,p.D210N|ENST00000497208,p.D192N|uc001zgz.2,p.D209N|ENST00000300175,p.D210N|NM_001144757,p.D210N|NM_003020,p.D209N|ENST00000494364,p.D191N|ENST00000413748,p.D209N	retained_intron, protein_coding, processed_transcript	uc001zha.2	nonsynonymous SNV	exon6	c.G628A	p.D210N	KKSVPHFSDEDKDPE	KKSVPHFSDEDKNPE	3.0	6.0	-	-	3466_15:32988799-32988799 G>A_KKSVPHFSDEDKNPE
10:115540535-115540535 G>A	1.0	3466	MELANOMA	-	-	-	-	PLEKHS1	ENST00000354462,p.E198K|ENST00000369312,p.E366K|NM_001193435,p.E366K|uc001lau.2,p.E282K|NM_001193434,p.E366K|ENST00000369309,p.E282K|uc001las.2,p.E366K|uc009xyc.2,p.E366K	protein_coding	uc009xyc.2	nonsynonymous SNV	exon13	c.G1096A	p.E366K	PAIKKSQQKGARE	PAIKKSQQKGARK	8.0	4.0	unscreened	-	3466_10:115540535-115540535 G>A_PAIKKSQQKGARK
4:88536170-88536170 A>T	0.0	3466	MELANOMA	-	-	-	-	DSPP	uc003hqu.3,p.N786Y|ENST00000399271,p.N786Y|ENST00000282478,p.N786Y|NM_014208,p.N786Y	protein_coding	uc003hqu.3	nonsynonymous SNV	exon5	c.A2356T	p.N786Y	SDSSDSSNSSDSNDSSNSSDSSDSS	SDSSDSSNSSDSYDSSNSSDSSDSS	1.0	6.0	unscreened	-	3466_4:88536170-88536170 A>T_SDSSDSSNSSDSYDSSNSSDSSDSS
11:108382084-108382084 C>T	0.0	3466	MELANOMA	-	-	-	-	EXPH5	uc010rvy.2,p.E1196K|uc001pkk.3,p.E1384K|ENST00000526312,p.E1308K|uc010rvz.2,p.E1228K|NM_015065,p.E1384K|ENST00000525344,p.E1377K|ENST00000428840,p.E1308K|ENST00000265843,p.E1384K|ENST00000443411,p.E1196K	protein_coding, processed_transcript	uc010rvz.2	nonsynonymous SNV	exon4	c.G3682A	p.E1228K	AKTPLGDSENKKERGKKLQSETLHT	AKTPLGDSENKKKRGKKLQSETLHT	1.0	6.0	unscreened	-	3466_11:108382084-108382084 C>T_AKTPLGDSENKKKRGKKLQSETLHT
2:74043106-74043106 G>A	0.0	3466	MELANOMA	-	-	-	-	C2orf78	NM_001080474,p.E586K|ENST00000409561,p.E586K|uc002sjr.1,p.E586K	protein_coding	uc002sjr.1	nonsynonymous SNV	exon3	c.G1756A	p.E586K	KGNRKNSSKKSEESKQSGKKVKVEE	KGNRKNSSKKSEKSKQSGKKVKVEE	1.0	6.0	unscreened	-	3466_2:74043106-74043106 G>A_KGNRKNSSKKSEKSKQSGKKVKVEE
2:177054866-177054866 C>T	0.0	3466	MELANOMA	-	-	ID=COSM1401457;OCCURENCE=1(large_intestine)	-	HOXD1	uc002ukv.5,p.S328L|NM_024501,p.S328L|ENST00000331462,p.S328L	protein_coding	uc002ukv.5	nonsynonymous SNV	exon2	c.C983T	p.S328L	KNPGSPSQSQEPS	KNPGSPSQSQEPL	2.0	5.0	unscreened	-	3466_2:177054866-177054866 C>T_KNPGSPSQSQEPL
12:117612137-117612137 G>T	1.0	3678	MELANOMA	-	-	-	-	FBXO21	NM_015002,p.S250Y|uc009zwq.3,p.S250Y|NM_033624,p.S250Y|ENST00000427718,p.S250Y|uc001twj.3,p.S250Y|uc001twk.3,p.S250Y|ENST00000330622,p.S250Y	protein_coding, processed_transcript	uc009zwq.3	nonsynonymous SNV	exon6	c.C749A	p.S250Y	RHPSLAFKAGESSMIMEIELQSQVL	RHPSLAFKAGESYMIMEIELQSQVL	9.0	5.0	CD8	-	3678_12:117612137-117612137 G>T_RHPSLAFKAGESYMIMEIELQSQVL
13:96547548-96547548 G>A	1.0	3678	MELANOMA	-	-	-	-	UGGT2	ENST00000376747,p.P882L|NM_020121,p.P882L|uc001vmt.3,p.P882L	retained_intron, protein_coding, processed_transcript	uc001vmt.3	nonsynonymous SNV	exon23	c.C2645T	p.P882L	EMGIVSNGRFLGPLDEDFYAEDFYL	EMGIVSNGRFLGLLDEDFYAEDFYL	9.0	10.0	CD8	-	3678_13:96547548-96547548 G>A_EMGIVSNGRFLGLLDEDFYAEDFYL
12:13061296-13061296 G>A	1.0	3678	MELANOMA	-	-	-	-	GPRC5A	NM_003979,p.G38E|ENST00000014914,p.G38E|uc001rba.3,p.G38E|ENST00000534831,p.G38E	retained_intron, protein_coding, processed_transcript	uc001rba.3	nonsynonymous SNV	exon2	c.G113A	p.G38E	AWGIVLETVATAGVVTSVAFMLTLP	AWGIVLETVATAEVVTSVAFMLTLP	8.0	6.0	-	-	3678_12:13061296-13061296 G>A_AWGIVLETVATAEVVTSVAFMLTLP
13:96536878-96536878 G>A	1.0	3678	MELANOMA	-	-	-	-	UGGT2	uc001vmu.1,p.S119F|uc001vmt.3,p.S1032F|NM_020121,p.S1032F|ENST00000376747,p.S1032F	retained_intron, protein_coding, processed_transcript	uc001vmu.1	nonsynonymous SNV	exon5	c.C356T	p.S119F	EPELMSGANDVSSLGPVAKFLDIPE	EPELMSGANDVSFLGPVAKFLDIPE	9.0	9.0	-	-	3678_13:96536878-96536878 G>A_EPELMSGANDVSFLGPVAKFLDIPE
10:111624956-111624956 A>T	1.0	3678	MELANOMA	-	-	-	-	XPNPEP1	uc001kyp.2,p.S663T|uc009xxt.2,p.S639T|NM_020383,p.S663T|ENST00000322238,p.S639T|ENST00000369683,p.S549T|NM_001167604,p.S639T|ENST00000502935,p.S663T|ENST00000369680,p.S620T|uc001kyq.2,p.S549T	retained_intron, protein_coding, processed_transcript	uc009xxt.2	nonsynonymous SNV	exon20	c.T1915A	p.S639T	ALEWLIRETQPISKQH	ALEWLIRETQPITKQH	9.0	9.0	CD8	-	3678_10:111624956-111624956 A>T_ALEWLIRETQPITKQH
13:36180563-36180563 G>A	1.0	3678	MELANOMA	-	-	-	2	NBEA	ENST00000379939,p.E2430K|ENST00000540320,p.E2433K|uc010tee.1,p.E226K|NM_015678,p.E2433K|NM_001204197,p.E226K|ENST00000537702,p.E226K|uc010abi.3,p.E1089K|ENST00000310336,p.E2433K|uc010teg.1,p.E226K|ENST00000400445,p.E2433K|uc010tef.2,p.E226K|uc021rid.1,p.E2433K	protein_coding, processed_transcript	uc021rid.1	nonsynonymous SNV	exon48	c.G7297A	p.E2433K	WRTSQRDTSDVKELIPEFYYLPEMF	WRTSQRDTSDVKKLIPEFYYLPEMF	6.0	2.0	-	-	3678_13:36180563-36180563 G>A_WRTSQRDTSDVKKLIPEFYYLPEMF
22:47189550-47189550 C>T	1.0	3678	MELANOMA	-	-	-	-	TBC1D22A	uc003bif.3,p.S44F|ENST00000380995,p.S44F|ENST00000441162,p.S44F|ENST00000407381,p.S91F|NM_001284305,p.S44F|NM_014346,p.S91F|NM_001284303,p.S72F|ENST00000337137,p.S91F|uc010haf.3,p.S61F|ENST00000406733,p.S44F|ENST00000394449,p.S91F|ENST00000355704,p.S72F|NM_001284304,p.S61F|uc003bib.3,p.S91F|uc003bie.3,p.S72F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010haf.3	nonsynonymous SNV	exon4	c.C182T	p.S61F	DELLAMAAESLNSEVVMETANRVLR	DELLAMAAESLNFEVVMETANRVLR	9.0	8.0	-	-	3678_22:47189550-47189550 C>T_DELLAMAAESLNFEVVMETANRVLR
17:73625056-73625056 G>A	1.0	3678	MELANOMA	-	-	-	-	RECQL5	NM_004259,p.P816L|ENST00000582548,p.P156L|uc010dgk.3,p.P789L|ENST00000423245,p.P789L|ENST00000317905,p.P816L|uc010dgl.3,p.P816L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dgl.3	nonsynonymous SNV	exon16	c.C2447T	p.P816L	YTGEEDGAGGHSPAPPQTEECLRER	YTGEEDGAGGHSLAPPQTEECLRER	8.0	8.0	CD8	-	3678_17:73625056-73625056 G>A_YTGEEDGAGGHSLAPPQTEECLRER
16:4463368-4463368 G>A	1.0	3678	MELANOMA	-	-	-	-	CORO7,CORO7-PAM16	NM_001201473,p.S33L|NM_001201472,p.S33L|uc010uxi.2,p.S33L|NM_001201479,p.S33L|ENST00000574025,p.S33L|uc002cwh.4,p.S33L|ENST00000572898,p.S33L|ENST00000572467,p.S33L|ENST00000571059,p.S33L|ENST00000537233,p.S33L|ENST00000251166,p.S33L|NM_024535,p.S33L|ENST00000571756,p.S33L|uc002cwf.3,p.S33L|ENST00000570928,p.S33L|ENST00000575850,p.S46L|uc010uxh.2,p.S33L|ENST00000575038,p.S33L|ENST00000575334,p.S33L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uxi.2	nonsynonymous SNV	exon2	c.C98T	p.S33L	SWISDIRAGTAPSCRNHIKSSCSLI	SWISDIRAGTAPLCRNHIKSSCSLI	8.0	3.0	CD8	-	3678_16:4463368-4463368 G>A_SWISDIRAGTAPLCRNHIKSSCSLI
5:89701603-89701603 G>A	1.0	3678	MELANOMA	-	-	-	-	CETN3	ENST00000518458,p.A49V|NM_004365,p.A56V|ENST00000522565,p.A56V|uc003kjo.3,p.A56V|NM_001297765,p.A56V|ENST00000522842,p.A56V|ENST00000522083,p.A56V|NM_001297768,p.A56V|ENST00000283122,p.A56V|ENST00000522864,p.A56V	protein_coding, nonsense_mediated_decay	uc003kjo.3	nonsynonymous SNV	exon3	c.C167T	p.A56V	AIDYHELKVAMRALGFDVKKADVLK	AIDYHELKVAMRVLGFDVKKADVLK	9.0	2.0	-	-	3678_5:89701603-89701603 G>A_AIDYHELKVAMRVLGFDVKKADVLK
17:64731637-64731637 G>A	1.0	3678	MELANOMA	-	-	ID=COSM3820296;OCCURENCE=1(breast)	-	PRKCA	uc002jfp.1,p.E363K|ENST00000413366,p.E363K|uc002jfo.1,p.E234K|NM_002737,p.E363K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jfp.1	nonsynonymous SNV	exon10	c.G1087A	p.E363K	GKVMLADRKGTEELYAIKILKKDVV	GKVMLADRKGTEKLYAIKILKKDVV	6.0	6.0	-	-	3678_17:64731637-64731637 G>A_GKVMLADRKGTEKLYAIKILKKDVV
11:598461-598461 C>T	1.0	3678	MELANOMA	-	-	-	-	PHRF1	uc009ybz.1,p.P119L|uc001lqe.3,p.P328L|ENST00000534320,p.P328L|ENST00000416188,p.P328L|uc010qwe.2,p.P324L|ENST00000264555,p.P328L|uc010qwd.2,p.P327L|uc010qwc.2,p.P328L|ENST00000413872,p.P327L|NM_020901,p.P328L|ENST00000533464,p.P324L|NM_001286581,p.P328L|NM_001286583,p.P324L|NM_001286582,p.P327L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qwe.2	nonsynonymous SNV	exon9	c.C971T	p.P324L	VATGLSTAVYQRPLTPRTPARRKRK	VATGLSTAVYQRLLTPRTPARRKRK	7.0	7.0	-	-	3678_11:598461-598461 C>T_VATGLSTAVYQRLLTPRTPARRKRK
3:122829849-122829849 C>A	1.0	3678	MELANOMA	-	-	-	-	PDIA5	uc003egc.2,p.P180H|NM_006810,p.P180H|ENST00000316218,p.P180H|ENST00000489923,p.P180H	protein_coding, processed_transcript, nonsense_mediated_decay	uc003egc.2	nonsynonymous SNV	exon7	c.C539A	p.P180H	KEEKPLLIMFYAPWCSMCKRMMPHF	KEEKPLLIMFYAHWCSMCKRMMPHF	8.0	1.0	-	-	3678_3:122829849-122829849 C>A_KEEKPLLIMFYAHWCSMCKRMMPHF
4:89361358-89361358 A>G	1.0	3678	MELANOMA	-	-	-	-	HERC6	NM_017912,p.K933R|NM_001165136,p.K897R|uc011cdl.3,p.K290R|ENST00000380265,p.K897R|uc011cdi.2,p.K933R|uc011cdj.2,p.K897R|ENST00000264346,p.K933R	retained_intron, protein_coding, nonsense_mediated_decay	uc011cdl.3	nonsynonymous SNV	exon19	c.A869G	p.K290R	YQKSHPTIQLFWKAFHKLTLDEKKK	YQKSHPTIQLFWRAFHKLTLDEKKK	8.0	7.0	-	-	3678_4:89361358-89361358 A>G_YQKSHPTIQLFWRAFHKLTLDEKKK
17:45199928-45199928 C>T	1.0	3678	MELANOMA	-	-	-	-	CDC27	ENST00000527547,p.M757I|ENST00000446365,p.M697I|uc002ild.4,p.M758I|ENST00000066544,p.M758I|NM_001293091,p.M697I|NM_001114091,p.M764I|NM_001293089,p.M757I|NM_001256,p.M758I|ENST00000531206,p.M764I|uc010wkp.2,p.M697I|uc002ile.4,p.M764I|uc002ilf.4,p.M757I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wkp.2	nonsynonymous SNV	exon17	c.G2091A	p.M697I	VYKKLGQTHLALMNFSWAMDLDPKG	VYKKLGQTHLALINFSWAMDLDPKG	9.0	8.0	-	-	3678_17:45199928-45199928 C>T_VYKKLGQTHLALINFSWAMDLDPKG
19:36259320-36259320 G>A	1.0	3678	MELANOMA	-	-	-	-	PROSER3	uc021usz.1,p.R439Q|ENST00000396908,p.R438Q|NM_001039887,p.R439Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021usz.1	nonsynonymous SNV	exon12	c.G1316A	p.R439Q	AELSRQKREADARLSFLLDQAEDLG	AELSRQKREADAQLSFLLDQAEDLG	9.0	4.0	-	-	3678_19:36259320-36259320 G>A_AELSRQKREADAQLSFLLDQAEDLG
1:155110536-155110536 T>A	1.0	3678	MELANOMA	-	-	-	-	SLC50A1	ENST00000368404,p.C176S|NM_001287587,p.C169S|NM_001287592,p.C58S|ENST00000368401,p.C121S|uc001fhl.4,p.C122S|uc001fhk.4,p.C121S|NM_001287586,p.C130S|NM_001122837,p.C121S|ENST00000484157,p.C111S|NM_018845,p.C176S|NM_001287591,p.C138S|NM_001122839,p.C122S|NM_001287589,p.C67S|ENST00000303343,p.C122S|NM_001287588,p.C121S|uc001fhj.4,p.C176S|NM_001287590,p.C111S	protein_coding, processed_transcript	uc001fhl.4	nonsynonymous SNV	exon4	c.T364A	p.C122S	LTIATLLTSASWCLYGFRLRDPYIM	LTIATLLTSASWSLYGFRLRDPYIM	8.0	2.0	-	-	3678_1:155110536-155110536 T>A_LTIATLLTSASWSLYGFRLRDPYIM
16:2126158-2126158 C>T	1.0	3678	MELANOMA	-	-	-	1	TSC2	ENST00000401874,p.P910L|uc002cop.3,p.P710L|uc002coo.3,p.P910L|uc002con.3,p.P910L|NM_001077183,p.P910L|ENST00000568454,p.P921L|ENST00000219476,p.P910L|ENST00000439673,p.P873L|ENST00000382538,p.P861L|ENST00000350773,p.P910L|uc010bsd.3,p.P910L|NM_000548,p.P910L|uc010uvw.2,p.P861L|NM_001114382,p.P910L|uc010uvv.2,p.P873L|ENST00000353929,p.P910L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uvw.2	nonsynonymous SNV	exon23	c.C2582T	p.P861L	IRCRLPFRKDFVPFITKGLRSNVLL	IRCRLPFRKDFVLFITKGLRSNVLL	10.0	10.0	-	-	3678_16:2126158-2126158 C>T_IRCRLPFRKDFVLFITKGLRSNVLL
18:77456034-77456034 G>A	1.0	3678	MELANOMA	-	-	-	-	CTDP1	ENST00000590635,p.M33I|NM_004715,p.M152I|uc002lni.2,p.M152I|ENST00000075430,p.M152I|ENST00000591598,p.M84I|uc010drd.2,p.M152I|uc002lnh.2,p.M152I|NM_001202504,p.M33I|NM_048368,p.M152I|ENST00000299543,p.M152I|uc021ult.1,p.M33I	retained_intron, protein_coding, processed_transcript	uc021ult.1	nonsynonymous SNV	exon3	c.G99A	p.M33I	KQQVPLSTATVSMVHSVPELMVSSE	KQQVPLSTATVSIVHSVPELMVSSE	6.0	7.0	-	-	3678_18:77456034-77456034 G>A_KQQVPLSTATVSIVHSVPELMVSSE
22:39813821-39813821 C>T	1.0	3678	MELANOMA	-	-	-	-	TAB1	ENST00000331454,p.L173F|uc003axt.3,p.L173F|uc003axu.1,p.L173F|uc003axr.3,p.L249F|NM_153497,p.L173F|NM_006116,p.L173F|ENST00000216160,p.L173F	retained_intron, protein_coding, processed_transcript	uc003axu.1	nonsynonymous SNV	exon5	c.C517T	p.L173F	EISGGAMAVVAVLLNNKLYVANVGT	EISGGAMAVVAVFLNNKLYVANVGT	7.0	3.0	-	-	3678_22:39813821-39813821 C>T_EISGGAMAVVAVFLNNKLYVANVGT
3:51677977-51677977 C>T	1.0	3678	MELANOMA	-	-	-	-	RAD54L2	uc011bdt.2,p.L813F|uc003dbj.3,p.L139F|uc003dbh.3,p.L402F|NM_015106,p.L813F|ENST00000296477,p.L507F|uc011bdu.2,p.L507F|ENST00000409535,p.L813F	retained_intron, protein_coding	uc011bdu.2	nonsynonymous SNV	exon11	c.C1519T	p.L507F	FNDPSNLTTWLFLLSTRAGCLGVNL	FNDPSNLTTWLFFLSTRAGCLGVNL	7.0	3.0	-	-	3678_3:51677977-51677977 C>T_FNDPSNLTTWLFFLSTRAGCLGVNL
6:57015651-57015651 G>A	1.0	3678	MELANOMA	-	-	-	-	ZNF451	uc003pdk.2,p.G915S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pdk.2	nonsynonymous SNV	exon11	c.G2743A	p.G915S	LPGHLNQGTFIWGFQGTVNKKNKRK	LPGHLNQGTFIWSFQGTVNKKNKRK	9.0	5.0	unscreened	-	3678_6:57015651-57015651 G>A_LPGHLNQGTFIWSFQGTVNKKNKRK
11:65838313-65838313 G>A	1.0	3678	MELANOMA	-	-	-	-	PACS1	NM_018026,p.R119K|uc001ogz.1,p.R119K|uc001oha.2,p.R119K|ENST00000320580,p.R119K	retained_intron, protein_coding, nonsense_mediated_decay	uc001oha.2	nonsynonymous SNV	exon1	c.G356A	p.R119K	WEVDRSSSSCVPRLFSLTLKKLVML	WEVDRSSSSCVPKLFSLTLKKLVML	9.0	5.0	-	-	3678_11:65838313-65838313 G>A_WEVDRSSSSCVPKLFSLTLKKLVML
12:6636068-6636068 G>A	1.0	3678	MELANOMA	-	-	-	-	NCAPD2	ENST00000545962,p.A871T|ENST00000382457,p.A788T|uc010sfd.1,p.A871T|uc001qoo.2,p.A916T|NM_014865,p.A916T|uc009zen.1,p.A788T|ENST00000315579,p.A916T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sfd.1	nonsynonymous SNV	exon21	c.G2611A	p.A871T	KRTSQEDPKESPAMLPTFLLMNLLS	KRTSQEDPKESPTMLPTFLLMNLLS	8.0	6.0	-	-	3678_12:6636068-6636068 G>A_KRTSQEDPKESPTMLPTFLLMNLLS
7:22186571-22186571 C>T	1.0	3678	MELANOMA	-	-	-	-	RAPGEF5	ENST00000401957,p.D348N|ENST00000344041,p.D498N|NM_012294,p.D498N|uc011jyl.1,p.D179N|uc003svg.3,p.D498N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011jyl.1	nonsynonymous SNV	exon7	c.G535A	p.D179N	QRSMRILGMNTWDLALELMNFDWSL	QRSMRILGMNTWNLALELMNFDWSL	6.0	9.0	-	-	3678_7:22186571-22186571 C>T_QRSMRILGMNTWNLALELMNFDWSL
5:176894486-176894486 G>A	1.0	3678	MELANOMA	-	-	-	-	DBN1	ENST00000393565,p.P158L|ENST00000309007,p.P158L|NM_004395,p.P158L|ENST00000292385,p.P160L|uc010jkn.1,p.P108L|NM_080881,p.P160L|ENST00000477391,p.P157L|uc003mgz.1,p.P95L|uc003mgx.2,p.P160L|uc003mgy.2,p.P158L	retained_intron, protein_coding	uc010jkn.1	nonsynonymous SNV	exon4	c.C323T	p.P108L	HRLRLREDENAEPVGTTYQKTDAAV	HRLRLREDENAELVGTTYQKTDAAV	8.0	5.0	-	-	3678_5:176894486-176894486 G>A_HRLRLREDENAELVGTTYQKTDAAV
12:124827580-124827580 G>A	1.0	3678	MELANOMA	-	-	-	1	NCOR2	ENST00000397355,p.S1627F|uc021rgc.1,p.S1626F|uc010tbc.2,p.S1626F|NM_001077261,p.S1626F|ENST00000429285,p.S1626F|ENST00000356219,p.S1643F|ENST00000405201,p.S1636F|NM_001206654,p.S1626F|uc010tba.2,p.S1644F|uc010tbb.2,p.S1636F|ENST00000404621,p.S1626F|NM_006312,p.S1636F|ENST00000404121,p.S1197F	retained_intron, protein_coding	uc021rgc.1	nonsynonymous SNV	exon34	c.C4877T	p.S1626F	YRSHIPLAFDPTSIPRGIPLDAAAA	YRSHIPLAFDPTFIPRGIPLDAAAA	10.0	2.0	-	-	3678_12:124827580-124827580 G>A_YRSHIPLAFDPTFIPRGIPLDAAAA
3:67411135-67411135 G>A	1.0	3678	MELANOMA	-	-	-	-	SUCLG2	ENST00000493112,p.S414L|uc021xae.1,p.S414L|NM_001177599,p.S414L	protein_coding	uc021xae.1	nonsynonymous SNV	exon11	c.C1241T	p.S414L	GSYMHIKQETGNSNENITGIQENVA	GSYMHIKQETGNLNENITGIQENVA	10.0	5.0	-	-	3678_3:67411135-67411135 G>A_GSYMHIKQETGNLNENITGIQENVA
11:93912839-93912839 C>T	1.0	3678	MELANOMA	-	-	-	-	PANX1	ENST00000436171,p.S206F|NM_015368,p.S206F|uc001peq.3,p.S206F|uc001per.3,p.S206F|ENST00000227638,p.S206F	protein_coding	uc001per.3	nonsynonymous SNV	exon4	c.C617T	p.S206F	PIVEQYLKTKKNSNNLIIKYISCRL	PIVEQYLKTKKNFNNLIIKYISCRL	7.0	1.0	-	-	3678_11:93912839-93912839 C>T_PIVEQYLKTKKNFNNLIIKYISCRL
5:137729061-137729061 G>C	1.0	3678	MELANOMA	-	-	-	-	KDM3B	NM_016604,p.R944T|uc010jew.1,p.R600T|ENST00000394866,p.R600T|ENST00000314358,p.R944T|uc003lcy.1,p.R944T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jew.1	nonsynonymous SNV	exon9	c.G1799C	p.R600T	DSTVACRFFHFRRLIFTRKGVLRVE	DSTVACRFFHFRTLIFTRKGVLRVE	9.0	3.0	-	-	3678_5:137729061-137729061 G>C_DSTVACRFFHFRTLIFTRKGVLRVE
3:133356901-133356901 G>A	1.0	3678	MELANOMA	-	-	-	-	TOPBP1	ENST00000260810,p.P780L|uc003eps.3,p.P780L|NM_007027,p.P780L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003eps.3	nonsynonymous SNV	exon14	c.C2339T	p.P780L	TRLQTHRKTVVTPLDMNRFQSKAFR	TRLQTHRKTVVTLLDMNRFQSKAFR	9.0	3.0	unscreened	-	3678_3:133356901-133356901 G>A_TRLQTHRKTVVTLLDMNRFQSKAFR
17:65163739-65163739 T>A	1.0	3678	MELANOMA	-	-	-	-	HELZ	uc010wqk.2,p.Y535F|uc002jfx.4,p.Y535F|NM_014877,p.Y535F|ENST00000417253,p.Y535F|ENST00000580168,p.Y535F|ENST00000358691,p.Y535F|ENST00000579953,p.Y535F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay	uc010wqk.2	nonsynonymous SNV	exon14	c.A1604T	p.Y535F	AGRLVMTKVNAVYLLPVPKQKLVQT	AGRLVMTKVNAVFLLPVPKQKLVQT	9.0	4.0	unscreened	-	3678_17:65163739-65163739 T>A_AGRLVMTKVNAVFLLPVPKQKLVQT
3:133356902-133356902 G>A	1.0	3678	MELANOMA	-	-	-	-	TOPBP1	ENST00000260810,p.P780S|uc003eps.3,p.P780S|NM_007027,p.P780S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003eps.3	nonsynonymous SNV	exon14	c.C2338T	p.P780S	TRLQTHRKTVVTPLDMNRFQSKAFR	TRLQTHRKTVVTSLDMNRFQSKAFR	9.0	3.0	unscreened	-	3678_3:133356902-133356902 G>A_TRLQTHRKTVVTSLDMNRFQSKAFR
19:57764507-57764507 C>T	1.0	3678	MELANOMA	-	-	-	-	ZNF805	uc010ygt.2,p.S107F|NM_001023563,p.S107F|ENST00000414468,p.S107F	protein_coding	uc010ygt.2	nonsynonymous SNV	exon4	c.C320T	p.S107F	PTTCELALSEGISFWGQLTQGASGD	PTTCELALSEGIFFWGQLTQGASGD	6.0	7.0	-	-	3678_19:57764507-57764507 C>T_PTTCELALSEGIFFWGQLTQGASGD
17:80391580-80391580 C>T	1.0	3678	MELANOMA	-	-	-	-	HEXDC	uc002kev.4,p.S110F|ENST00000577944,p.S110F|ENST00000337014,p.S110F|NM_173620,p.S110F|ENST00000578632,p.S63F|ENST00000580235,p.S18F|uc002kew.3,p.S110F|ENST00000327949,p.S110F	retained_intron, protein_coding, nonsense_mediated_decay	uc002kew.3	nonsynonymous SNV	exon4	c.C329T	p.S110F	KHTAFAHLREVGSFPCTLNPHEAES	KHTAFAHLREVGFFPCTLNPHEAES	6.0	7.0	-	-	3678_17:80391580-80391580 C>T_KHTAFAHLREVGFFPCTLNPHEAES
19:42583489-42583489 C>T	1.0	3678	MELANOMA	-	-	-	-	ZNF574	ENST00000359044,p.S244F|uc021uva.1,p.S244F|ENST00000600245,p.S244F|uc002osk.4,p.S334F|uc002osm.4,p.S244F|NM_022752,p.S244F|ENST00000222339,p.S334F	protein_coding	uc021uva.1	nonsynonymous SNV	exon1	c.C731T	p.S244F	HQATHFPAPVPESQEPALQQEVQAS	HQATHFPAPVPEFQEPALQQEVQAS	6.0	3.0	-	-	3678_19:42583489-42583489 C>T_HQATHFPAPVPEFQEPALQQEVQAS
4:79345550-79345550 G>A	1.0	3678	MELANOMA	-	-	-	-	FRAS1	NM_001166133,p.E1563K|ENST00000325942,p.E1563K|uc003hlb.2,p.E1563K|ENST00000264895,p.E1563K|NM_025074,p.E1563K|uc003hkw.3,p.E1563K	retained_intron, protein_coding, nonsense_mediated_decay	uc003hlb.2	nonsynonymous SNV	exon35	c.G4687A	p.E1563K	QELMAFSFAGLPESVKFHFTVSDGE	QELMAFSFAGLPKSVKFHFTVSDGE	6.0	2.0	-	-	3678_4:79345550-79345550 G>A_QELMAFSFAGLPKSVKFHFTVSDGE
12:112579011-112579011 C>T	1.0	3678	MELANOMA	-	-	-	-	TRAFD1	uc009zwb.2,p.S209L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zwb.2	nonsynonymous SNV	exon5	c.C626T	p.S209L	RTTNQRNITAQVSIQNNLCELCLGL	RTTNQRNITAQVLIQNNLCELCLGL	7.0	6.0	unscreened	-	3678_12:112579011-112579011 C>T_RTTNQRNITAQVLIQNNLCELCLGL
21:37742103-37742103 G>T	1.0	3678	MELANOMA	-	-	-	-	MORC3	ENST00000551788,p.A65S|ENST00000549948,p.A65S|uc002yvi.3,p.A813S|ENST00000400485,p.A813S|ENST00000546482,p.A65S|NM_015358,p.A813S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002yvi.3	nonsynonymous SNV	exon15	c.G2437T	p.A813S	SNNESKSEMDEMAVQLDDVFRQLDK	SNNESKSEMDEMSVQLDDVFRQLDK	10.0	8.0	-	-	3678_21:37742103-37742103 G>T_SNNESKSEMDEMSVQLDDVFRQLDK
13:23907705-23907705 G>A	1.0	3678	MELANOMA	-	-	-	-	SACS	ENST00000402364,p.P2687L|NM_001278055,p.P3290L|uc001uoo.3,p.P3290L|uc001uon.3,p.P3437L|ENST00000382292,p.P3437L|ENST00000382298,p.P3437L|NM_014363,p.P3437L	protein_coding, processed_transcript	uc001uoo.3	nonsynonymous SNV	exon8	c.C9869T	p.P3290L	KFGTCYVLTKSIPSAEVEKWTQSSS	KFGTCYVLTKSILSAEVEKWTQSSS	7.0	6.0	-	-	3678_13:23907705-23907705 G>A_KFGTCYVLTKSILSAEVEKWTQSSS
8:90796335-90796335 C>G	1.0	3678	MELANOMA	-	-	-	-	RIPK2	ENST00000540020,p.L196V|uc003yee.3,p.L333V|NM_003821,p.L333V|ENST00000220751,p.L333V|uc003yef.3,p.L196V	retained_intron, protein_coding, nonsense_mediated_decay	uc003yef.3	nonsynonymous SNV	exon7	c.C586G	p.L196V	IHLCDKKKMELSLNIPVNHGPQEES	IHLCDKKKMELSVNIPVNHGPQEES	8.0	7.0	-	-	3678_8:90796335-90796335 C>G_IHLCDKKKMELSVNIPVNHGPQEES
11:64055327-64055327 C>T	0.0	3678	MELANOMA	-	-	-	-	GPR137	ENST00000546139,p.S187F|ENST00000438980,p.S181F|uc001nzh.2,p.S181F|uc010rni.2,p.S239F|uc001nze.2,p.S181F|NM_001177358,p.S181F|NM_001170881,p.S181F|ENST00000411458,p.S239F|ENST00000539833,p.S181F|NM_020155,p.S181F|ENST00000543383,p.S181F|NM_001170726,p.S239F|NM_001170880,p.S181F|uc010rnj.2,p.S181F|ENST00000539851,p.S181F|uc001nzi.3,p.S181F|ENST00000377702,p.S181F|uc021qkt.1,p.S181F|ENST00000313074,p.S181F|uc001nzf.3,p.S181F	retained_intron, protein_coding, nonsense_mediated_decay	uc021qkt.1	nonsynonymous SNV	exon3	c.C542T	p.S181F	WALLLVRVLVSDSLFVICALSLAAC	WALLLVRVLVSDFLFVICALSLAAC	7.0	3.0	unscreened	-	3678_11:64055327-64055327 C>T_WALLLVRVLVSDFLFVICALSLAAC
16:75203876-75203876 C>T	1.0	3678	MELANOMA	-	-	-	-	ZFP1	ENST00000570010,p.H290Y|ENST00000332307,p.H257Y|uc002fdo.3,p.H290Y|uc010cgt.3,p.H257Y|uc002fdp.3,p.H235Y|uc010cgs.3,p.H235Y|uc002fdq.3,p.H290Y|NM_153688,p.H290Y|ENST00000393430,p.H290Y	protein_coding, processed_transcript	uc010cgt.3	nonsynonymous SNV	exon3	c.C769T	p.H257Y	AQKFELTTHQRIHTGERPYECNECA	AQKFELTTHQRIYTGERPYECNECA	8.0	5.0	-	-	3678_16:75203876-75203876 C>T_AQKFELTTHQRIYTGERPYECNECA
12:94769792-94769792 G>A	1.0	3678	MELANOMA	-	-	-	-	CEP83	ENST00000397809,p.A268V|ENST00000339839,p.A268V|uc001tdd.3,p.A268V|ENST00000547575,p.A268V|uc001tde.3,p.A268V|ENST00000547232,p.A235V|NM_016122,p.A268V|NM_001042399,p.A268V|ENST00000397807,p.A235V|uc001tdf.3,p.A268V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001tdf.3	nonsynonymous SNV	exon8	c.C803T	p.A268V	LAEMQATVRSLEAEKQSANLRAERL	LAEMQATVRSLEVEKQSANLRAERL	7.0	8.0	-	-	3678_12:94769792-94769792 G>A_LAEMQATVRSLEVEKQSANLRAERL
18:5415942-5415942 A>T	0.0	3678	MELANOMA	-	-	-	-	EPB41L3	ENST00000342933,p.F648I|uc002kmt.1,p.F648I|ENST00000341928,p.F648I|NM_012307,p.F648I	retained_intron, protein_coding, processed_transcript	uc002kmt.1	nonsynonymous SNV	exon13	c.T1942A	p.F648I	FLFIFFFLLSASFSVPYALTLSFPL	FLFIFFFLLSASISVPYALTLSFPL	10.0	4.0	unscreened	-	3678_18:5415942-5415942 A>T_FLFIFFFLLSASISVPYALTLSFPL
16:55530881-55530881 C>T	1.0	3678	MELANOMA	-	-	-	-	MMP2	uc002ehz.4,p.P506S|NM_004530,p.P506S|ENST00000219070,p.P506S|ENST00000543485,p.P430S|ENST00000570283,p.P131S|NM_001127891,p.P456S|uc010ccc.3,p.P456S|uc010vhd.2,p.P430S|ENST00000437642,p.P456S|ENST00000570308,p.P430S	protein_coding, nonsense_mediated_decay	uc010vhd.2	nonsynonymous SNV	exon10	c.C1288T	p.P430S	WRTVTPRDKPMGPLLVATFWPELPE	WRTVTPRDKPMGSLLVATFWPELPE	10.0	5.0	-	-	3678_16:55530881-55530881 C>T_WRTVTPRDKPMGSLLVATFWPELPE
16:27514195-27514195 A>C	0.0	3678	MELANOMA	-	-	-	-	GTF3C1	ENST00000356183,p.I631S|uc002dov.2,p.I631S|uc002dou.3,p.I631S|NM_001520,p.I631S|ENST00000561623,p.I631S|NM_001286242,p.I631S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dov.2	nonsynonymous SNV	exon11	c.T1892G	p.I631S	NLIIEAVTNLRLIESLFTIQKMIMD	NLIIEAVTNLRLSESLFTIQKMIMD	8.0	3.0	unscreened	-	3678_16:27514195-27514195 A>C_NLIIEAVTNLRLSESLFTIQKMIMD
6:138752187-138752187 C>T	1.0	3678	MELANOMA	-	-	-	-	NHSL1	uc003qhx.3,p.E1103K|NM_001144060,p.E1099K|ENST00000427025,p.E1103K|ENST00000343505,p.E1099K|uc011edp.2,p.E1099K|NM_020464,p.E1103K	retained_intron, protein_coding, processed_transcript	uc011edp.2	nonsynonymous SNV	exon6	c.G3295A	p.E1099K	AEAAQLSERTAQEQRTPVAPQYHLK	AEAAQLSERTAQKQRTPVAPQYHLK	9.0	6.0	-	-	3678_6:138752187-138752187 C>T_AEAAQLSERTAQKQRTPVAPQYHLK
17:28384850-28384850 C>T	1.0	3678	MELANOMA	-	-	-	-	EFCAB5	uc010wbj.2,p.S785F|ENST00000536908,p.S785F|ENST00000541045,p.S498F|NM_001145053,p.S785F|ENST00000440741,p.S841F|ENST00000394835,p.S841F|uc010csf.3,p.S720F|NM_198529,p.S841F|ENST00000394832,p.S841F|uc002het.3,p.S841F|ENST00000378738,p.S841F|uc010wbk.2,p.S498F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wbk.2	nonsynonymous SNV	exon12	c.C1493T	p.S498F	EDAPLSVSETLTSFFKEGYVETEQE	EDAPLSVSETLTFFFKEGYVETEQE	5.0	1.0	-	-	3678_17:28384850-28384850 C>T_EDAPLSVSETLTFFFKEGYVETEQE
6:135239743-135239743 G>A	1.0	3678	MELANOMA	-	-	-	-	ALDH8A1	ENST00000460753,p.S110F|NM_170771,p.S371F|ENST00000367845,p.S371F|uc003qex.3,p.S371F|NM_001193480,p.S375F|ENST00000265605,p.S425F|NM_022568,p.S425F|uc010kgh.3,p.S203F|uc011ecx.2,p.S375F|uc003qew.3,p.S425F|ENST00000367847,p.S375F	protein_coding, nonsense_mediated_decay	uc011ecx.2	nonsynonymous SNV	exon6	c.C1124T	p.S375F	NNVKYGLAATVWSSNVGRVHRVAKK	NNVKYGLAATVWFSNVGRVHRVAKK	6.0	3.0	-	-	3678_6:135239743-135239743 G>A_NNVKYGLAATVWFSNVGRVHRVAKK
7:149559035-149559035 T>C	1.0	3678	MELANOMA	-	-	ID=COSM485033;OCCURENCE=1(kidney)	-	ZNF862	uc010lpn.3,p.I929T|ENST00000223210,p.I929T|NM_001099220,p.I929T	retained_intron, protein_coding, processed_transcript	uc010lpn.3	nonsynonymous SNV	exon7	c.T2786C	p.I929T	FQADRERTVLTGIEYLQQRFDADRP	FQADRERTVLTGTEYLQQRFDADRP	7.0	8.0	-	-	3678_7:149559035-149559035 T>C_FQADRERTVLTGTEYLQQRFDADRP
11:121016634-121016634 C>T	1.0	3678	MELANOMA	-	-	-	-	TECTA	ENST00000392793,p.P1305L|uc010rzo.2,p.P1305L|NM_005422,p.P1305L|ENST00000264037,p.P1305L	protein_coding, processed_transcript	uc010rzo.2	nonsynonymous SNV	exon11	c.C3914T	p.P1305L	GFSKVQQLCSLIPNQNAAFSKCHSK	GFSKVQQLCSLILNQNAAFSKCHSK	3.0	4.0	-	-	3678_11:121016634-121016634 C>T_GFSKVQQLCSLILNQNAAFSKCHSK
1:201839865-201839865 T>C	1.0	3678	MELANOMA	-	-	-	-	IPO9	ENST00000361565,p.V763A|uc001gwz.3,p.V763A|NM_018085,p.V763A	protein_coding, processed_transcript	uc001gwz.3	nonsynonymous SNV	exon18	c.T2288C	p.V763A	LDPRTSEFTAAFVGRLVSTLISKAG	LDPRTSEFTAAFAGRLVSTLISKAG	8.0	5.0	-	-	3678_1:201839865-201839865 T>C_LDPRTSEFTAAFAGRLVSTLISKAG
2:128753998-128753998 C>A	1.0	3678	MELANOMA	-	-	-	-	SAP130	uc002tpn.2,p.R214S|ENST00000259235,p.R453S|NM_024545,p.R453S|NM_001145928,p.R453S|ENST00000357702,p.R453S|uc002tpp.2,p.R453S|uc002tpq.1,p.R426S|uc010fmd.2,p.R453S|ENST00000259234,p.R427S	protein_coding	uc010fmd.2	nonsynonymous SNV	exon11	c.G1359T	p.R453S	TSPRIQPDYPAERSSLIPISGHRAS	TSPRIQPDYPAESSSLIPISGHRAS	6.0	10.0	-	-	3678_2:128753998-128753998 C>A_TSPRIQPDYPAESSSLIPISGHRAS
17:29227457-29227457 A>C	1.0	3678	MELANOMA	-	-	-	-	TEFM	uc002hfu.2,p.Y207D|ENST00000581216,p.Y207D|NM_024683,p.Y207D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002hfu.2	nonsynonymous SNV	exon3	c.T619G	p.Y207D	QQSDRWSLMRGIYSSSVYLEEISSI	QQSDRWSLMRGIDSSSVYLEEISSI	7.0	5.0	unscreened	-	3678_17:29227457-29227457 A>C_QQSDRWSLMRGIDSSSVYLEEISSI
17:3928361-3928361 G>A	1.0	3678	MELANOMA	-	-	ID=COSM460337;OCCURENCE=1(cervix)	-	ZZEF1	NM_015113,p.S2315F|uc002fxh.3,p.S629F|ENST00000381638,p.S2315F|uc002fxi.3,p.S550F|uc002fxe.3,p.S2315F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002fxi.3	nonsynonymous SNV	exon14	c.C1649T	p.S550F	LVQKGGGQECGDSRAQLSQYSQHFA	LVQKGGGQECGDFRAQLSQYSQHFA	8.0	8.0	-	-	3678_17:3928361-3928361 G>A_LVQKGGGQECGDFRAQLSQYSQHFA
22:39438977-39438977 C>T	0.0	3678	MELANOMA	-	-	-	-	APOBEC3F	uc011aog.1,p.S18F|ENST00000381565,p.S18F|NM_145298,p.S18F|uc003aww.3,p.S18F|NM_001006666,p.S18F|uc003awv.3,p.S18F|ENST00000308521,p.S18F	retained_intron, protein_coding, processed_transcript	uc011aog.1	nonsynonymous SNV	exon2	c.C53T	p.S18F	RNTVERMYRDTFSYNFYNRPILSRR	RNTVERMYRDTFFYNFYNRPILSRR	6.0	1.0	unscreened	-	3678_22:39438977-39438977 C>T_RNTVERMYRDTFFYNFYNRPILSRR
X:135080654-135080654 G>A	1.0	3678	MELANOMA	-	-	-	-	SLC9A6	ENST00000370701,p.R154Q|uc011mvx.2,p.R154Q|NM_001177651,p.R154Q|ENST00000370695,p.R206Q|NM_006359,p.R174Q|ENST00000370698,p.R174Q|uc004ezj.3,p.R174Q|uc004ezk.3,p.R206Q|NM_001042537,p.R206Q	protein_coding	uc011mvx.2	nonsynonymous SNV	exon5	c.G461A	p.R154Q	YAGYSLKRRHFFRNLGSILAYAFLG	YAGYSLKRRHFFQNLGSILAYAFLG	7.0	9.0	-	-	3678_X:135080654-135080654 G>A_YAGYSLKRRHFFQNLGSILAYAFLG
3:194159638-194159638 G>A	1.0	3678	MELANOMA	0.0005	-	-	-	ATP13A3	ENST00000256031,p.R592C|uc003fty.4,p.R592C|ENST00000439040,p.R592C|uc003ftz.1,p.R298C|NM_024524,p.R592C	retained_intron, protein_coding	uc003ftz.1	nonsynonymous SNV	exon7	c.C892T	p.R298C	TALHNRIMPTVVRPPKQLLPESTPA	TALHNRIMPTVVCPPKQLLPESTPA	9.0	4.0	-	-	3678_3:194159638-194159638 G>A_TALHNRIMPTVVCPPKQLLPESTPA
4:2883633-2883633 T>G	1.0	3678	MELANOMA	-	-	-	-	ADD1	uc003gft.3,p.C68W|ENST00000446856,p.C68W|ENST00000355842,p.C68W|ENST00000398125,p.C68W|ENST00000511797,p.C68W|NM_001286645,p.C68W|ENST00000503455,p.C68W|NM_001119,p.C68W|uc003gfs.3,p.C68W|ENST00000513328,p.C68W|uc010ico.1,p.C68W|NM_176801,p.C68W|NM_014190,p.C68W|ENST00000264758,p.C68W|uc003gfr.3,p.C68W|ENST00000398123,p.C68W|uc003gfp.3,p.C68W|uc003gfo.3,p.C68W|NM_014189,p.C68W|uc003gfq.3,p.C68W|ENST00000398129,p.C68W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ico.1	nonsynonymous SNV	exon3	c.T204G	p.C68W	KRVSMILQSPAFCEELESMIQEQFK	KRVSMILQSPAFWEELESMIQEQFK	10.0	1.0	-	-	3678_4:2883633-2883633 T>G_KRVSMILQSPAFWEELESMIQEQFK
7:134134531-134134531 G>A	1.0	3678	MELANOMA	-	-	-	-	AKR1B1	ENST00000434222,p.P124S|ENST00000285930,p.P124S|NM_001628,p.P124S|uc003vrp.1,p.P124S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vrp.1	nonsynonymous SNV	exon4	c.C370T	p.P124S	WPTGFKPGKEFFPLDESGNVVPSDT	WPTGFKPGKEFFSLDESGNVVPSDT	10.0	1.0	-	-	3678_7:134134531-134134531 G>A_WPTGFKPGKEFFSLDESGNVVPSDT
6:43400229-43400229 C>T	1.0	3678	MELANOMA	-	-	-	-	ABCC10	uc003ouy.1,p.R171C|ENST00000244533,p.R128C|ENST00000372530,p.R171C|NM_001198934,p.R171C|NM_033450,p.R128C|uc003ouz.1,p.R128C	retained_intron, protein_coding, processed_transcript	uc003ouz.1	nonsynonymous SNV	exon1	c.C382T	p.R128C	TLLPPLLPGPMARLCLLILQLAALL	TLLPPLLPGPMACLCLLILQLAALL	7.0	7.0	-	-	3678_6:43400229-43400229 C>T_TLLPPLLPGPMACLCLLILQLAALL
17:73945826-73945826 G>A	1.0	3678	MELANOMA	-	-	-	-	ACOX1	NM_007292,p.T484I|ENST00000537812,p.T446I|ENST00000301608,p.T484I|uc002jqf.3,p.T484I|ENST00000293217,p.T484I|uc002jqe.3,p.T484I|uc010wsr.2,p.T416I|uc010wsq.2,p.T446I|NM_001185039,p.T446I|NM_004035,p.T484I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wsr.2	nonsynonymous SNV	exon11	c.C1247T	p.T416I	PTMVDINSPESLTEAYKLRAARLVE	PTMVDINSPESLIEAYKLRAARLVE	8.0	8.0	-	-	3678_17:73945826-73945826 G>A_PTMVDINSPESLIEAYKLRAARLVE
3:194790460-194790460 G>A	1.0	3678	MELANOMA	-	-	-	-	XXYLT1	uc003ful.3,p.P186L|NM_152531,p.P389L|ENST00000429994,p.P243L|ENST00000355729,p.P186L|ENST00000356740,p.P183L|uc003fum.4,p.P389L|ENST00000310380,p.P389L|uc003fuk.3,p.P183L|ENST00000437101,p.P186L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003fum.4	nonsynonymous SNV	exon4	c.C1166T	p.P389L	GHVKIYHGNCNTPIPED	GHVKIYHGNCNTLIPED	5.0	3.0	-	-	3678_3:194790460-194790460 G>A_GHVKIYHGNCNTLIPED
9:119460647-119460647 C>T	1.0	3678	MELANOMA	-	-	-	-	TRIM32	NM_012210,p.S209F|uc022bmo.1,p.S209F|uc004bjw.2,p.S209F|ENST00000450136,p.S209F|NM_001099679,p.S209F|uc004bjx.2,p.S209F|ENST00000373983,p.S209F	protein_coding	uc022bmo.1	nonsynonymous SNV	exon1	c.C626T	p.S209F	DELARSRKFFTGSLAEVEKSNSQVV	DELARSRKFFTGFLAEVEKSNSQVV	7.0	9.0	-	-	3678_9:119460647-119460647 C>T_DELARSRKFFTGFLAEVEKSNSQVV
17:29227457-29227457 A>C	1.0	3678	MELANOMA	-	-	-	-	TEFM	ENST00000580840,p.Y207D|uc002hfw.2,p.Y207D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002hfw.2	nonsynonymous SNV	exon3	c.T619G	p.Y207D	QQSDRWSLMRGIYSSSVYLEEVRQL	QQSDRWSLMRGIDSSSVYLEEVRQL	7.0	5.0	unscreened	-	3678_17:29227457-29227457 A>C_QQSDRWSLMRGIDSSSVYLEEVRQL
3:15686033-15686033 C>T	1.0	3678	MELANOMA	-	-	-	-	BTD	NM_001281725,p.P204S|uc011avw.2,p.P226S|ENST00000449107,p.P226S|ENST00000303498,p.P224S|ENST00000437172,p.P226S|uc011avv.2,p.P226S|NM_001281724,p.P226S|NM_000060,p.P224S|uc003cah.3,p.P224S|ENST00000436193,p.P204S|ENST00000383778,p.P204S|NM_001281723,p.P226S|uc011avx.2,p.P204S	protein_coding, processed_transcript, nonsense_mediated_decay	uc011avx.2	nonsynonymous SNV	exon4	c.C610T	p.P204S	KHNLYFEAAFDVPLKVDLITFDTPF	KHNLYFEAAFDVSLKVDLITFDTPF	8.0	8.0	-	-	3678_3:15686033-15686033 C>T_KHNLYFEAAFDVSLKVDLITFDTPF
1:156281999-156281999 G>A	1.0	3678	MELANOMA	-	-	-	-	CCT3	uc010phl.2,p.R284W|ENST00000368259,p.R292W|ENST00000368261,p.R285W|uc001fon.2,p.R292W|ENST00000295688,p.R330W|NM_001008800,p.R292W|ENST00000472765,p.R285W|NM_005998,p.R330W|uc010phj.2,p.R284W|uc010phk.2,p.R284W|uc001fol.2,p.R330W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010phl.2	nonsynonymous SNV	exon10	c.C850T	p.R284W	TDNNRIARACGARIVSRPEELREDD	TDNNRIARACGAWIVSRPEELREDD	10.0	10.0	-	-	3678_1:156281999-156281999 G>A_TDNNRIARACGAWIVSRPEELREDD
3:23574137-23574137 A>-	0.0	3678	MELANOMA	-	-	-	-	UBE2E2	NM_152653,p.L151fs|ENST00000425792,p.L151fs|ENST00000396703,p.L151fs|uc003ccg.2,p.L151fs	protein_coding, nonsense_mediated_decay	uc003ccg.2	frameshift deletion	exon5	c.453delA	p.L151fs	CLDILKDNWSPALTISKVLLSICSL	CLDILKDNWSPALLFLKFSSPSAHFLQIATLLTLWWAASPHST	8.0	6.0	unscreened	-	3678_3:23574137-23574137 A>-_CLDILKDNWSPALLFLKFSSPSAHFLQIATLLTLWWAASPHST
17:65163740-65163740 A>T	1.0	3678	MELANOMA	-	-	-	-	HELZ	NM_014877,p.Y535N|ENST00000417253,p.Y535N|ENST00000580168,p.Y535N|ENST00000579953,p.Y535N|ENST00000358691,p.Y535N|uc010wqk.2,p.Y535N|uc002jfx.4,p.Y535N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay	uc010wqk.2	nonsynonymous SNV	exon14	c.T1603A	p.Y535N	AGRLVMTKVNAVYLLPVPKQKLVQT	AGRLVMTKVNAVNLLPVPKQKLVQT	9.0	4.0	unscreened	-	3678_17:65163740-65163740 A>T_AGRLVMTKVNAVNLLPVPKQKLVQT
16:1706737-1706737 C>T	1.0	3678	MELANOMA	-	-	-	-	CRAMP1L	ENST00000262317,p.P38L|uc010uvh.2,p.P660L|ENST00000293925,p.P660L|ENST00000436138,p.P657L|ENST00000397412,p.P660L|NM_020825,p.P660L	retained_intron, protein_coding	uc010uvh.2	nonsynonymous SNV	exon9	c.C1979T	p.P660L	GPPPSQGQPAARPPKEVPASRLAQQ	GPPPSQGQPAARLPKEVPASRLAQQ	9.0	1.0	-	-	3678_16:1706737-1706737 C>T_GPPPSQGQPAARLPKEVPASRLAQQ
X:3229661-3229661 C>T	0.0	3678	MELANOMA	-	-	-	-	MXRA5	ENST00000217939,p.D2195N|NM_015419,p.D2195N|uc004crg.4,p.D2195N	protein_coding	uc004crg.4	nonsynonymous SNV	exon7	c.G6583A	p.D2195N	PSKRMIDALFSFDSRIKVFANGTLV	PSKRMIDALFSFNSRIKVFANGTLV	6.0	6.0	unscreened	-	3678_X:3229661-3229661 C>T_PSKRMIDALFSFNSRIKVFANGTLV
11:66258783-66258783 C>T	1.0	3678	MELANOMA	-	-	-	-	DPP3	ENST00000453114,p.P243S|NM_005700,p.P243S|uc001oig.2,p.P243S|uc001oif.2,p.P243S|ENST00000360510,p.P243S|NM_130443,p.P243S|uc010rpe.2,p.P213S|NM_001256670,p.P213S|ENST00000533725,p.P141S|ENST00000531863,p.P263S|ENST00000530165,p.P213S|ENST00000541961,p.P243S|ENST00000532677,p.P262S	retained_intron, protein_coding, processed_transcript	uc010rpe.2	nonsynonymous SNV	exon6	c.C637T	p.P213S	TSKLKSYEFRGSPFQVTRGDYAPIL	TSKLKSYEFRGSSFQVTRGDYAPIL	8.0	10.0	-	-	3678_11:66258783-66258783 C>T_TSKLKSYEFRGSSFQVTRGDYAPIL
15:101523808-101523808 G>A	1.0	3678	MELANOMA	-	-	-	-	LRRK1	ENST00000388948,p.E113K|ENST00000284395,p.E86K|uc002bwq.1,p.E113K|uc002bwr.3,p.E113K|NM_024652,p.E113K|ENST00000525284,p.E113K|ENST00000531270,p.E113K|ENST00000532029,p.E113K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bwr.3	nonsynonymous SNV	exon4	c.G337A	p.E113K	EMVRYLLSKRLVELPTEPTDDNPAV	EMVRYLLSKRLVKLPTEPTDDNPAV	6.0	2.0	-	-	3678_15:101523808-101523808 G>A_EMVRYLLSKRLVKLPTEPTDDNPAV
5:80074567-80074567 C>T	1.0	3678	MELANOMA	-	-	-	-	MSH3	NM_002439,p.P783S|ENST00000265081,p.P783S|uc003kgz.4,p.P783S	protein_coding, processed_transcript	uc003kgz.4	nonsynonymous SNV	exon17	c.C2347T	p.P783S	VGSTKAVSRFHSPFIVENYRHLNQL	VGSTKAVSRFHSSFIVENYRHLNQL	8.0	5.0	-	-	3678_5:80074567-80074567 C>T_VGSTKAVSRFHSSFIVENYRHLNQL
7:138268707-138268707 T>C	1.0	3678	MELANOMA	-	-	-	1	TRIM24	uc003vuc.3,p.F969S|NM_015905,p.F969S|uc003vub.3,p.F935S|ENST00000343526,p.F969S|NM_003852,p.F935S|ENST00000415680,p.F935S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vuc.3	nonsynonymous SNV	exon18	c.T2906C	p.F969S	SMYSKPEDFVADFRLIFQNCAEFNE	SMYSKPEDFVADSRLIFQNCAEFNE	9.0	1.0	-	-	3678_7:138268707-138268707 T>C_SMYSKPEDFVADSRLIFQNCAEFNE
13:32691492-32691492 C>T	1.0	3678	MELANOMA	-	-	-	-	FRY	ENST00000436046,p.L113F|ENST00000380250,p.L116F|uc001utx.3,p.L116F|NM_023037,p.L116F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001utx.3	nonsynonymous SNV	exon4	c.C346T	p.L116F	PQFDQVISSMSSLSEYCLPSILRTL	PQFDQVISSMSSFSEYCLPSILRTL	6.0	1.0	-	-	3678_13:32691492-32691492 C>T_PQFDQVISSMSSFSEYCLPSILRTL
13:98662205-98662205 C>A	1.0	3678	MELANOMA	-	-	-	-	IPO5	uc010til.1,p.P564Q|ENST00000261574,p.P642Q|ENST00000357602,p.P624Q|ENST00000539640,p.P499Q|uc010tik.1,p.P499Q|uc001vne.3,p.P642Q|ENST00000490680,p.P624Q|NM_002271,p.P642Q|uc001vng.1,p.P245Q|uc001vnf.1,p.P624Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010til.1	nonsynonymous SNV	exon16	c.C1691A	p.P564Q	CKILGKEFQQYLPVVMGPLMKTASI	CKILGKEFQQYLQVVMGPLMKTASI	10.0	3.0	-	-	3678_13:98662205-98662205 C>A_CKILGKEFQQYLQVVMGPLMKTASI
3:172096211-172096211 C>T	1.0	3678	MELANOMA	-	-	-	-	FNDC3B	ENST00000416957,p.P1054S|ENST00000336824,p.P1054S|uc003fhz.4,p.P1054S|ENST00000415807,p.P1054S|uc003fhy.3,p.P1054S|NM_022763,p.P1054S|NM_001135095,p.P1054S	retained_intron, protein_coding, processed_transcript	uc003fhz.4	nonsynonymous SNV	exon24	c.C3160T	p.P1054S	SETYTFSTTKSVPPTIKAPRVTQLE	SETYTFSTTKSVSPTIKAPRVTQLE	10.0	9.0	-	-	3678_3:172096211-172096211 C>T_SETYTFSTTKSVSPTIKAPRVTQLE
6:6224934-6224934 C>T	0.0	3678	MELANOMA	-	-	-	-	F13A1	uc003mwv.3,p.G320S|NM_000129,p.G320S|uc011dib.2,p.G257S|ENST00000264870,p.G320S	retained_intron, protein_coding	uc011dib.2	nonsynonymous SNV	exon6	c.G769A	p.G257S	NPVRYGQCWVFAGVFNTFLRCLGIP	NPVRYGQCWVFASVFNTFLRCLGIP	6.0	9.0	unscreened	-	3678_6:6224934-6224934 C>T_NPVRYGQCWVFASVFNTFLRCLGIP
19:37879874-37879874 G>A	0.0	3678	MELANOMA	-	-	-	-	ZNF527	uc010efk.1,p.G308E|ENST00000436120,p.G308E|NM_032453,p.G308E|uc002ogf.3,p.G276E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010efk.1	nonsynonymous SNV	exon5	c.G923A	p.G308E	HSGEKPYACNDCGKAFSHDFFLSEH	HSGEKPYACNDCEKAFSHDFFLSEH	6.0	7.0	unscreened	-	3678_19:37879874-37879874 G>A_HSGEKPYACNDCEKAFSHDFFLSEH
15:65319353-65319353 C>T	1.0	3678	MELANOMA	-	-	-	-	MTFMT	NM_139242,p.D79N|uc002aof.4,p.D79N|ENST00000543678,p.D79N|ENST00000558460,p.D79N|ENST00000220058,p.D79N|ENST00000560717,p.D74N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002aof.4	nonsynonymous SNV	exon2	c.G235A	p.D79N	HAARENKEEELIDKLEVVTMPSPSP	HAARENKEEELINKLEVVTMPSPSP	7.0	3.0	-	-	3678_15:65319353-65319353 C>T_HAARENKEEELINKLEVVTMPSPSP
14:77772726-77772726 T>G	1.0	3678	MELANOMA	-	-	-	-	POMT2	uc010asr.2,p.K20T|uc001xti.2,p.K131T|ENST00000554948,p.K40T|NM_013382,p.K131T|ENST00000261534,p.K131T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010asr.2	nonsynonymous SNV	exon2	c.A59C	p.K20T	YLSGYDGTFLFQKPGDKYEHHSYMG	YLSGYDGTFLFQTPGDKYEHHSYMG	9.0	6.0	-	-	3678_14:77772726-77772726 T>G_YLSGYDGTFLFQTPGDKYEHHSYMG
12:112579011-112579011 C>T	1.0	3678	MELANOMA	-	-	-	-	TRAFD1	uc001ttp.3,p.S209L|uc001tto.3,p.S209L|NM_001143906,p.S209L|ENST00000257604,p.S209L|ENST00000552896,p.S209L|ENST00000412615,p.S209L|NM_006700,p.S209L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ttp.3	nonsynonymous SNV	exon5	c.C626T	p.S209L	RTTNQRNITAQVSIQNNLFEEQERQ	RTTNQRNITAQVLIQNNLFEEQERQ	7.0	6.0	unscreened	-	3678_12:112579011-112579011 C>T_RTTNQRNITAQVLIQNNLFEEQERQ
8:95416464-95416464 G>A	1.0	3678	MELANOMA	-	-	-	-	RAD54B	ENST00000336148,p.S262F|NM_001205263,p.S78F|uc003ygk.3,p.S262F|NM_012415,p.S262F|uc010may.2,p.S78F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010may.2	nonsynonymous SNV	exon4	c.C233T	p.S78F	NCKPRHDPYTPNSLVMPRPDKNHQW	NCKPRHDPYTPNFLVMPRPDKNHQW	6.0	5.0	-	-	3678_8:95416464-95416464 G>A_NCKPRHDPYTPNFLVMPRPDKNHQW
1:7723848-7723848 C>T	0.0	3678	MELANOMA	-	-	-	1	CAMTA1	uc001aoi.3,p.P414L|NM_015215,p.P414L|ENST00000439411,p.P414L|ENST00000303635,p.P414L	protein_coding, processed_transcript, nonsense_mediated_decay	uc001aoi.3	nonsynonymous SNV	exon9	c.C1241T	p.P414L	SEVTNEAVYTMSPTAGPNHHLLSPD	SEVTNEAVYTMSLTAGPNHHLLSPD	9.0	10.0	unscreened	-	3678_1:7723848-7723848 C>T_SEVTNEAVYTMSLTAGPNHHLLSPD
1:154901580-154901580 G>A	1.0	3678	MELANOMA	-	-	-	-	PMVK	NM_006556,p.R78C|ENST00000368467,p.R78C|uc001ffq.3,p.R78C	protein_coding	uc001ffq.3	nonsynonymous SNV	exon3	c.C232T	p.R78C	STYKEAFRKDMIRWGEEKRQADPGF	STYKEAFRKDMICWGEEKRQADPGF	7.0	3.0	-	-	3678_1:154901580-154901580 G>A_STYKEAFRKDMICWGEEKRQADPGF
19:39008098-39008098 G>A	0.0	3678	MELANOMA	0.0005	-	-	-	RYR1	uc002oiu.3,p.R3262H|ENST00000359596,p.R3262H|ENST00000355481,p.R3262H|ENST00000360985,p.R3262H|uc002oit.3,p.R3262H|NM_001042723,p.R3262H|uc010xuf.1,p.R182H|NM_000540,p.R3262H	retained_intron, protein_coding, nonsense_mediated_decay	uc010xuf.1	nonsynonymous SNV	exon5	c.G545A	p.R182H	MADIGGLAESGARYTEMPHVIEITL	MADIGGLAESGAHYTEMPHVIEITL	8.0	6.0	unscreened	-	3678_19:39008098-39008098 G>A_MADIGGLAESGAHYTEMPHVIEITL
10:99640110-99640110 C>T	1.0	3678	MELANOMA	0.0009	-	-	-	CRTAC1	ENST00000298819,p.E558K|ENST00000413387,p.E454K|uc001kot.2,p.E348K	protein_coding, processed_transcript	uc001kot.2	nonsynonymous SNV	exon11	c.G1042A	p.E348K	PMNASSSHSCALETSPYVSTPMEAT	PMNASSSHSCALKTSPYVSTPMEAT	7.0	10.0	-	-	3678_10:99640110-99640110 C>T_PMNASSSHSCALKTSPYVSTPMEAT
7:82545765-82545765 C>T	1.0	3678	MELANOMA	-	-	ID=COSM1092190,COSM1092189;OCCURENCE=1(endometrium)	-	PCLO	ENST00000423517,p.R3846Q|uc003uhv.2,p.R3846Q|uc010lec.3,p.R811Q|ENST00000333891,p.R3846Q|ENST00000437081,p.R566Q|NM_033026,p.R3846Q|uc003uhx.2,p.R3846Q|NM_014510,p.R3846Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lec.3	nonsynonymous SNV	exon2	c.G2432A	p.R811Q	MSDSEVSSTRPTRIESQHGIERPRT	MSDSEVSSTRPTQIESQHGIERPRT	7.0	9.0	-	-	3678_7:82545765-82545765 C>T_MSDSEVSSTRPTQIESQHGIERPRT
15:90628552-90628552 C>A	1.0	3678	MELANOMA	-	-	-	1	IDH2	uc002box.3,p.E345D|uc010uqc.2,p.E215D|ENST00000539790,p.E215D|NM_001289910,p.E293D|uc010uqb.2,p.E293D|NM_001290114,p.E215D|ENST00000330062,p.E345D|ENST00000559482,p.E236D|NM_002168,p.E345D|ENST00000540499,p.E293D	protein_coding, nonsense_mediated_decay	uc010uqc.2	nonsynonymous SNV	exon6	c.G645T	p.E215D	VLVCPDGKTIEAEAAHGTVTRHYRE	VLVCPDGKTIEADAAHGTVTRHYRE	8.0	6.0	-	-	3678_15:90628552-90628552 C>A_VLVCPDGKTIEADAAHGTVTRHYRE
14:20779867-20779867 G>A	1.0	3678	MELANOMA	-	-	-	1	CCNB1IP1	ENST00000398169,p.R226W|ENST00000358932,p.R226W|ENST00000398160,p.R226W|uc001vwx.4,p.R226W|NM_182852,p.R226W|ENST00000437553,p.R226W|uc001vwv.4,p.R226W|NM_182849,p.R226W|uc001vwz.4,p.R226W|uc021rnp.2,p.R226W|NM_021178,p.R226W|ENST00000398163,p.R226W|ENST00000353689,p.R226W|uc001vwy.4,p.R226W	protein_coding, processed_transcript, nonsense_mediated_decay	uc021rnp.2	nonsynonymous SNV	exon8	c.C676T	p.R226W	SKFPLDNTPVRNRGDGDGDFQFRPF	SKFPLDNTPVRNWGDGDGDFQFRPF	9.0	6.0	-	-	3678_14:20779867-20779867 G>A_SKFPLDNTPVRNWGDGDGDFQFRPF
11:32954080-32954080 C>T	1.0	3678	MELANOMA	-	-	-	-	QSER1	uc001mty.3,p.P297S|ENST00000399302,p.P297S|NM_001076786,p.P297S	retained_intron, protein_coding, processed_transcript	uc001mty.3	nonsynonymous SNV	exon4	c.C889T	p.P297S	TEQPLTSTKTPKPQSIIPPVQTLSY	TEQPLTSTKTPKSQSIIPPVQTLSY	9.0	2.0	-	-	3678_11:32954080-32954080 C>T_TEQPLTSTKTPKSQSIIPPVQTLSY
X:3241150-3241150 G>A	0.0	3678	MELANOMA	-	-	-	-	MXRA5	NM_015419,p.S859F|ENST00000217939,p.S859F|uc004crg.4,p.S859F	protein_coding	uc004crg.4	nonsynonymous SNV	exon5	c.C2576T	p.S859F	LLGEEEHVLGTISSASMGLEHNHNG	LLGEEEHVLGTIFSASMGLEHNHNG	6.0	6.0	unscreened	-	3678_X:3241150-3241150 G>A_LLGEEEHVLGTIFSASMGLEHNHNG
9:32542310-32542310 T>G	1.0	3678	MELANOMA	-	-	-	-	TOPORS	NM_005802,p.E738A|NM_001195622,p.E673A|uc003zrc.3,p.E673A|uc003zrb.3,p.E738A|ENST00000360538,p.E738A|ENST00000379858,p.E673A	protein_coding	uc003zrc.3	nonsynonymous SNV	exon2	c.A2018C	p.E673A	SRAHYSRQSSSPEFRVQSFSERTNA	SRAHYSRQSSSPAFRVQSFSERTNA	7.0	10.0	-	-	3678_9:32542310-32542310 T>G_SRAHYSRQSSSPAFRVQSFSERTNA
6:10984132-10984132 C>T	1.0	3678	MELANOMA	-	-	ID=COSM1439748;OCCURENCE=2(large_intestine)	-	ELOVL2	NM_017770,p.R258Q|ENST00000354666,p.R258Q|uc003mzp.4,p.R258Q	protein_coding	uc003mzp.4	nonsynonymous SNV	exon8	c.G773A	p.R258Q	VILFLNFYVQTYRKKPMKKDMQEPP	VILFLNFYVQTYQKKPMKKDMQEPP	6.0	8.0	-	-	3678_6:10984132-10984132 C>T_VILFLNFYVQTYQKKPMKKDMQEPP
6:57015651-57015651 G>A	1.0	3678	MELANOMA	-	-	-	-	ZNF451	uc003pdl.4,p.G915S|ENST00000370706,p.G915S|uc003pdm.2,p.G915S|ENST00000491832,p.G915S|NM_001031623,p.G915S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pdm.2	nonsynonymous SNV	exon11	c.G2743A	p.G915S	LPGHLNQGTFIWGFQGGNTNWKPPL	LPGHLNQGTFIWSFQGGNTNWKPPL	9.0	5.0	-	-	3678_6:57015651-57015651 G>A_LPGHLNQGTFIWSFQGGNTNWKPPL
10:99640110-99640110 C>T	1.0	3678	MELANOMA	0.0009	-	-	-	CRTAC1	NM_018058,p.R572Q|uc001kov.3,p.R572Q|ENST00000370591,p.R572Q|ENST00000309155,p.R564Q|NM_001206528,p.R572Q|uc001kou.2,p.R572Q|ENST00000370597,p.R572Q	protein_coding, processed_transcript	uc001kov.3	nonsynonymous SNV	exon14	c.G1715A	p.R572Q	TNECIQFPFVCPRDKPVCVNTYGSY	TNECIQFPFVCPQDKPVCVNTYGSY	7.0	10.0	unscreened	-	3678_10:99640110-99640110 C>T_TNECIQFPFVCPQDKPVCVNTYGSY
10:18885208-18885208 C>T	1.0	3678	MELANOMA	-	-	-	-	NSUN6	ENST00000377304,p.E236K|NM_182543,p.E236K|uc010qcp.1,p.E236K	protein_coding, processed_transcript	uc010qcp.1	nonsynonymous SNV	exon7	c.G706A	p.E236K	ALVSHVLNPQPGEKILDLCAAPGGK	ALVSHVLNPQPGKKILDLCAAPGGK	7.0	1.0	-	-	3678_10:18885208-18885208 C>T_ALVSHVLNPQPGKKILDLCAAPGGK
16:2282244-2282244 C>T	1.0	3678	MELANOMA	0.0005	-	-	-	E4F1	NM_001288778,p.P163L|NM_004424,p.P163L|NM_001288776,p.P163L	retained_intron, protein_coding, nonsense_mediated_decay	NM_004424	nonsynonymous SNV	exon4	c.C488T	p.P163L	EAELGDGEMAEAPGSPHQQGLGLAG	EAELGDGEMAEALGSPHQQGLGLAG	6.0	9.0	unscreened	-	3678_16:2282244-2282244 C>T_EAELGDGEMAEALGSPHQQGLGLAG
16:70303666-70303666 C>T	1.0	3678	MELANOMA	-	-	-	-	AARS	uc002eyn.1,p.G273S|uc010vlu.1,p.G103S|NM_001605,p.G273S|ENST00000261772,p.G273S	retained_intron, protein_coding, processed_transcript	uc010vlu.1	nonsynonymous SNV	exon3	c.G307A	p.G103S	DLFVPYFEAIQKGTGARPYTGKVGA	DLFVPYFEAIQKSTGARPYTGKVGA	9.0	2.0	-	-	3678_16:70303666-70303666 C>T_DLFVPYFEAIQKSTGARPYTGKVGA
12:94575337-94575337 A>G	1.0	3678	MELANOMA	-	-	-	-	PLXNC1	ENST00000551850,p.Y56C|ENST00000258526,p.Y440C|uc001tdc.3,p.Y440C|NM_005761,p.Y440C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001tdc.3	nonsynonymous SNV	exon3	c.A1319G	p.Y440C	KLVPDPVKNIYIYLTAGKEVRRIRV	KLVPDPVKNIYICLTAGKEVRRIRV	10.0	8.0	-	-	3678_12:94575337-94575337 A>G_KLVPDPVKNIYICLTAGKEVRRIRV
16:2126158-2126158 C>T	1.0	3678	MELANOMA	-	-	-	1	TSC2	ENST00000483020,p.P4L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000483020	nonsynonymous SNV	exon1	c.C11T	p.P4L	DFVPFITKVGSGPVKA	DFVLFITKVGSGPVKA	10.0	10.0	unscreened	-	3678_16:2126158-2126158 C>T_DFVLFITKVGSGPVKA
10:16981131-16981131 T>C	1.0	3678	MELANOMA	-	-	-	-	CUBN	NM_001081,p.N1855S|ENST00000377833,p.N1855S|uc001ioo.3,p.N1855S	protein_coding	uc001ioo.3	nonsynonymous SNV	exon38	c.A5564G	p.N1855S	FQATFMKIFGNDNIVGTHGKVASPF	FQATFMKIFGNDSIVGTHGKVASPF	6.0	2.0	-	-	3678_10:16981131-16981131 T>C_FQATFMKIFGNDSIVGTHGKVASPF
2:179590692-179590692 C>T	0.0	3678	MELANOMA	-	-	ID=COSM1269132;OCCURENCE=1(oesophagus)	-	TTN	uc021vsy.2,p.G5542E|ENST00000591111,p.G6469E|NM_133378,p.G5542E|uc031rqd.1,p.G6469E|NM_001267550,p.G6786E|ENST00000589042,p.G6786E|uc031rqc.1,p.G6786E|NM_001256850,p.G6469E|ENST00000342992,p.G5542E|uc002umz.1,p.G2203E	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon68	c.G19406A	p.G6469E	KNAEVSLECELSGTPPFEVVWYKDK	KNAEVSLECELSETPPFEVVWYKDK	3.0	10.0	unscreened	-	3678_2:179590692-179590692 C>T_KNAEVSLECELSETPPFEVVWYKDK
1:90048925-90048925 A>G	1.0	3678	MELANOMA	-	-	-	-	LRRC8B	uc001dnj.3,p.E239G|NM_015350,p.E239G|ENST00000358200,p.E239G|ENST00000439853,p.E239G|ENST00000330947,p.E239G|NM_001134476,p.E239G|uc001dnh.3,p.E239G|uc001dni.3,p.E239G	protein_coding, processed_transcript	uc001dnj.3	nonsynonymous SNV	exon5	c.A716G	p.E239G	DKKEGEQAKAIFEKVKRFRMHVEQK	DKKEGEQAKAIFGKVKRFRMHVEQK	7.0	10.0	-	-	3678_1:90048925-90048925 A>G_DKKEGEQAKAIFGKVKRFRMHVEQK
1:31350055-31350055 G>A	1.0	3678	MELANOMA	-	-	-	-	SDC3	uc001bsd.2,p.P14S|ENST00000336798,p.P14S	protein_coding, processed_transcript	uc001bsd.2	nonsynonymous SNV	exon1	c.C40T	p.P14S	AIAYLGSSCPSQPPSSLALSLSPTP	AIAYLGSSCPSQSPSSLALSLSPTP	9.0	10.0	-	-	3678_1:31350055-31350055 G>A_AIAYLGSSCPSQSPSSLALSLSPTP
5:147261098-147261098 T>A	0.0	3678	MELANOMA	-	-	-	-	SCGB3A2	NM_054023,p.L49I|ENST00000296694,p.L49I|uc003lot.2,p.L49I	protein_coding, processed_transcript	uc003lot.2	nonsynonymous SNV	exon2	c.T145A	p.L49I	LPLDNILPFMDPLKLLLKTLGISVE	LPLDNILPFMDPIKLLLKTLGISVE	1.0	9.0	unscreened	-	3678_5:147261098-147261098 T>A_LPLDNILPFMDPIKLLLKTLGISVE
12:124957637-124957637 G>A	1.0	3678	MELANOMA	-	-	-	1	NCOR2	ENST00000448008,p.P72L|ENST00000405201,p.P151L|NM_006312,p.P151L|uc001ugj.1,p.P151L|ENST00000420698,p.P151L|ENST00000429285,p.P151L|uc001ugk.1,p.P151L|NM_001206654,p.P151L|ENST00000397355,p.P151L|uc010tba.2,p.P151L|uc010tbb.2,p.P151L|uc021rgc.1,p.P151L|ENST00000404621,p.P151L|NM_001077261,p.P151L|ENST00000458234,p.P151L|ENST00000356219,p.P151L|uc010tbc.2,p.P151L	retained_intron, protein_coding	uc021rgc.1	nonsynonymous SNV	exon6	c.C452T	p.P151L	RSLTGKLEPVSPPSPPHTDPELELV	RSLTGKLEPVSPLSPPHTDPELELV	10.0	7.0	-	-	3678_12:124957637-124957637 G>A_RSLTGKLEPVSPLSPPHTDPELELV
8:77618237-77618237 G>T	1.0	3678	MELANOMA	-	-	-	-	ZFHX4	ENST00000521891,p.R638S|ENST00000455469,p.R638S|uc003yat.1,p.R638S|NM_024721,p.R638S|ENST00000050961,p.R638S|uc003yau.2,p.R638S|uc003yaw.1,p.R638S|ENST00000518282,p.R638S	retained_intron, protein_coding, nonsense_mediated_decay	uc003yaw.1	nonsynonymous SNV	exon1	c.G1914T	p.R638S	RSLGGHMTMMHSRNSCKTLKCPKCN	RSLGGHMTMMHSSNSCKTLKCPKCN	6.0	7.0	-	-	3678_8:77618237-77618237 G>T_RSLGGHMTMMHSSNSCKTLKCPKCN
16:2282244-2282244 C>T	1.0	3678	MELANOMA	0.0005	-	-	-	E4F1	uc010bsj.3,p.P163L|ENST00000564139,p.P163L|ENST00000565090,p.P163L|uc002cpm.3,p.P163L|ENST00000301727,p.P163L|uc010bsi.3,p.P163L|ENST00000565413,p.P141L	retained_intron, protein_coding, nonsense_mediated_decay	uc010bsj.3	nonsynonymous SNV	exon4	c.C488T	p.P163L	EAELGDGEMAEAPGSPRQQGLGLAG	EAELGDGEMAEALGSPRQQGLGLAG	6.0	9.0	unscreened	-	3678_16:2282244-2282244 C>T_EAELGDGEMAEALGSPRQQGLGLAG
21:47836380-47836380 C>T	1.0	3678	MELANOMA	-	-	-	-	PCNT	ENST00000359568,p.S2183L|uc002zjj.3,p.S2065L|NM_006031,p.S2183L|uc002zji.4,p.S2183L	retained_intron, protein_coding, processed_transcript	uc002zjj.3	nonsynonymous SNV	exon30	c.C6194T	p.S2065L	PDEMPDSPIQEKSECQDMSLSSPTS	PDEMPDSPIQEKLECQDMSLSSPTS	8.0	4.0	-	-	3678_21:47836380-47836380 C>T_PDEMPDSPIQEKLECQDMSLSSPTS
3:122437754-122437754 A>G	1.0	3678	MELANOMA	-	-	-	-	PARP14	uc003efs.1,p.T1303A|uc003efq.4,p.T1586A|ENST00000474629,p.T1586A|ENST00000460683,p.T1427A|NM_017554,p.T1586A|uc021xdc.1,p.T1450A|uc003efr.3,p.T1303A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xdc.1	nonsynonymous SNV	exon11	c.A4348G	p.T1450A	RHYTVNLNTYTATDTKGHSLSVQRL	RHYTVNLNTYTAADTKGHSLSVQRL	10.0	1.0	-	-	3678_3:122437754-122437754 A>G_RHYTVNLNTYTAADTKGHSLSVQRL
3:49548035-49548035 C>T	1.0	3678	MELANOMA	-	-	-	-	DAG1	ENST00000538711,p.S23F|ENST00000431960,p.S23F|ENST00000541308,p.S23F|ENST00000452317,p.S23F|ENST00000435508,p.S23F|ENST00000421560,p.S23F|ENST00000545947,p.S23F|ENST00000308775,p.S23F|ENST00000418588,p.S23F|ENST00000515359,p.S23F|ENST00000539901,p.S23F|ENST00000428779,p.S23F|ENST00000452060,p.S23F	protein_coding, processed_transcript	ENST00000545947	nonsynonymous SNV	exon5	c.C68T	p.S23F	LPLSGRTFLLLLSVVMAQSHWPSEP	LPLSGRTFLLLLFVVMAQSHWPSEP	9.0	5.0	unscreened	-	3678_3:49548035-49548035 C>T_LPLSGRTFLLLLFVVMAQSHWPSEP
3:49548035-49548035 C>T	1.0	3678	MELANOMA	-	-	-	-	DAG1	NM_001177641,p.S23F|uc021wya.1,p.S23F|NM_001177642,p.S23F|NM_001177634,p.S23F|NM_001177639,p.S23F|NM_001177644,p.S23F|NM_001165928,p.S23F|NM_001177637,p.S23F|NM_001177635,p.S23F|uc021wyb.1,p.S23F|NM_001177638,p.S23F|uc021wyd.1,p.S23F|uc021wxz.1,p.S23F|uc021wyh.1,p.S23F|uc021wyj.1,p.S23F|NM_001177643,p.S23F|NM_004393,p.S23F|NM_001177640,p.S23F|uc021wyk.1,p.S23F|uc021wye.1,p.S23F|uc021wyg.1,p.S23F|NM_001177636,p.S23F|uc021wyi.1,p.S23F|uc021wyf.1,p.S23F|uc003cxc.4,p.S23F|uc021wyc.1,p.S23F	protein_coding, processed_transcript	uc021wyk.1	nonsynonymous SNV	exon3	c.C68T	p.S23F	LPLWGRTFLLLLSVVMAQSHWPSEP	LPLWGRTFLLLLFVVMAQSHWPSEP	9.0	5.0	unscreened	-	3678_3:49548035-49548035 C>T_LPLWGRTFLLLLFVVMAQSHWPSEP
19:39914273-39914273 C>T	1.0	3678	MELANOMA	-	-	-	-	PLEKHG2	NM_022835,p.P860L|ENST00000458508,p.P801L|uc010xuy.2,p.P801L|uc010xva.2,p.P638L|ENST00000409794,p.P860L|ENST00000600210,p.P69L|uc010xuz.2,p.P860L|ENST00000425673,p.P831L	retained_intron, protein_coding	uc010xva.2	nonsynonymous SNV	exon14	c.C1913T	p.P638L	RVLAQPQPSPCLPQEQAEPGLLPAF	RVLAQPQPSPCLLQEQAEPGLLPAF	7.0	7.0	-	-	3678_19:39914273-39914273 C>T_RVLAQPQPSPCLLQEQAEPGLLPAF
3:12613660-12613660 C>T	1.0	3678	MELANOMA	-	-	-	-	MKRN2	NM_001271707,p.P101S|ENST00000170447,p.P144S|ENST00000411987,p.P101S|uc011aus.3,p.P101S|NM_014160,p.P144S|uc003bxd.4,p.P144S|ENST00000448482,p.P142S	protein_coding	uc011aus.3	nonsynonymous SNV	exon3	c.C301T	p.P101S	SCSDPQPSPEMKPHSYLDAIRSGLD	SCSDPQPSPEMKSHSYLDAIRSGLD	8.0	7.0	-	-	3678_3:12613660-12613660 C>T_SCSDPQPSPEMKSHSYLDAIRSGLD
1:155253771-155253771 C>T	0.0	3678	MELANOMA	-	-	-	-	HCN3	ENST00000368358,p.H239Y|NM_020897,p.H239Y|uc001fjz.2,p.H239Y	protein_coding, processed_transcript	uc001fjz.2	nonsynonymous SNV	exon3	c.C715T	p.H239Y	LIRYIHQWEEIFHMTYDLASAVVRI	LIRYIHQWEEIFYMTYDLASAVVRI	4.0	4.0	unscreened	-	3678_1:155253771-155253771 C>T_LIRYIHQWEEIFYMTYDLASAVVRI
12:94703825-94703831 TCTGTAT>-	1.0	3678	MELANOMA	-	-	-	-	CEP83	uc001tdd.3,p.I622fs|ENST00000397809,p.I622fs|uc001tde.3,p.I622fs|ENST00000552632,p.I86fs|NM_001042399,p.I622fs|ENST00000339839,p.I622fs|NM_016122,p.I622fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001tde.3	frameshift deletion	exon15	c.1864_1870del	p.I622fs	EDYTRLQKRLKDIQRRHNEFRSLIL	EDYTRLQKRLKDEDIMNFEV	7.0	2.0	unscreened	-	3678_12:94703825-94703831 TCTGTAT>-_EDYTRLQKRLKDEDIMNFEV
1:33795685-33795685 T>C	1.0	3678	MELANOMA	-	-	-	-	PHC2	ENST00000373416,p.D176G|NM_198040,p.D711G|uc001bxg.1,p.D711G|NM_004427,p.D176G|ENST00000257118,p.D711G|ENST00000373422,p.D317G|uc001bxh.1,p.D683G|ENST00000373418,p.D176G|uc001bxf.1,p.D126G|ENST00000419414,p.D712G|uc009vuh.1,p.D712G|ENST00000431992,p.D682G|uc001bxe.1,p.D176G	protein_coding, processed_transcript	uc009vuh.1	nonsynonymous SNV	exon13	c.A2135G	p.D712G	RASKASLPPLTKDTKKQPTGTVPLS	RASKASLPPLTKGTKKQPTGTVPLS	8.0	10.0	-	-	3678_1:33795685-33795685 T>C_RASKASLPPLTKGTKKQPTGTVPLS
8:144620549-144620549 G>A	1.0	3678	MELANOMA	-	-	-	-	ZC3H3	NM_015117,p.P330S|ENST00000262577,p.P330S|uc003yyd.2,p.P330S	protein_coding	uc003yyd.2	nonsynonymous SNV	exon2	c.C988T	p.P330S	SKSPRVARRALSPRVAAENVCKASA	SKSPRVARRALSSRVAAENVCKASA	6.0	5.0	-	-	3678_8:144620549-144620549 G>A_SKSPRVARRALSSRVAAENVCKASA
8:82615095-82615095 T>A	1.0	3678	MELANOMA	-	-	-	-	ZFAND1	uc010lzx.2,p.L207F|NM_024699,p.L214F|uc003yck.2,p.L107F|ENST00000520635,p.L107F|uc022awu.1,p.L107F|uc003ycj.2,p.L214F|ENST00000522520,p.L107F|ENST00000521287,p.L107F|NM_001170796,p.L207F|ENST00000523096,p.L207F|ENST00000220669,p.L214F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022awu.1	nonsynonymous SNV	exon7	c.A321T	p.L107F	LKNDNNKFTAKKLRLCHITSGEALP	LKNDNNKFTAKKFRLCHITSGEALP	10.0	5.0	-	-	3678_8:82615095-82615095 T>A_LKNDNNKFTAKKFRLCHITSGEALP
2:170592285-170592285 C>T	0.0	3678	MELANOMA	-	-	-	-	KLHL23,PHOSPHO2-KLHL23	uc002ufi.2,p.S254F|ENST00000272797,p.S254F|uc002ufh.2,p.S254F|NM_001199290,p.S254F|ENST00000392647,p.S254F|ENST00000437875,p.S75F|NM_144711,p.S254F	retained_intron, protein_coding, processed_transcript	uc002ufi.2	nonsynonymous SNV	exon2	c.C761T	p.S254F	QRSCLLTENKIRSLIYNALNPMHKE	QRSCLLTENKIRFLIYNALNPMHKE	4.0	9.0	unscreened	-	3678_2:170592285-170592285 C>T_QRSCLLTENKIRFLIYNALNPMHKE
11:108384463-108384463 G>A	0.0	3678	MELANOMA	-	-	-	-	EXPH5	uc010rvz.2,p.H435Y|ENST00000265843,p.H591Y|ENST00000428840,p.H515Y|uc001pkk.3,p.H591Y|NM_015065,p.H591Y|ENST00000526312,p.H515Y|ENST00000443411,p.H403Y|ENST00000533052,p.H403Y|ENST00000525344,p.H584Y|uc010rvy.2,p.H403Y	protein_coding, processed_transcript	uc010rvz.2	nonsynonymous SNV	exon4	c.C1303T	p.H435Y	TPNVCSMTGSSYHVKSSELVSQQDS	TPNVCSMTGSSYYVKSSELVSQQDS	5.0	8.0	unscreened	-	3678_11:108384463-108384463 G>A_TPNVCSMTGSSYYVKSSELVSQQDS
9:104356881-104356881 G>A	0.0	3678	MELANOMA	-	-	-	-	PPP3R2	NM_147180,p.S111F|uc004bbr.3,p.S111F|ENST00000374806,p.S111F	protein_coding	uc004bbr.3	nonsynonymous SNV	exon1	c.C332T	p.S111F	FSIYDMDKDGYISNGELFQVLKMMV	FSIYDMDKDGYIFNGELFQVLKMMV	1.0	10.0	unscreened	-	3678_9:104356881-104356881 G>A_FSIYDMDKDGYIFNGELFQVLKMMV
6:106543578-106543578 C>T	0.0	3678	MELANOMA	-	-	-	1	PRDM1	ENST00000369091,p.P91L|NM_001198,p.P127L|uc003prd.2,p.P127L|ENST00000369096,p.P127L	retained_intron, protein_coding	uc003prd.2	nonsynonymous SNV	exon3	c.C380T	p.P127L	PLIGEIYTNDTVPKNANRKYFWRIY	PLIGEIYTNDTVLKNANRKYFWRIY	7.0	2.0	unscreened	-	3678_6:106543578-106543578 C>T_PLIGEIYTNDTVLKNANRKYFWRIY
12:80660270-80660270 C>T	0.0	3678	MELANOMA	-	-	-	-	OTOGL	uc001szd.3,p.S746F|NM_173591,p.S746F|ENST00000547103,p.S746F|ENST00000458043,p.S746F	protein_coding, nonsense_mediated_decay	uc001szd.3	nonsynonymous SNV	exon20	c.C2237T	p.S746F	VVCQKGMLYHHCSSFCLHSCISLSS	VVCQKGMLYHHCFSFCLHSCISLSS	2.0	1.0	unscreened	-	3678_12:80660270-80660270 C>T_VVCQKGMLYHHCFSFCLHSCISLSS
12:26639254-26639254 C>T	1.0	3678	MELANOMA	-	-	-	-	ITPR2	uc001rhg.3,p.G1865E|NM_002223,p.G1865E|ENST00000381340,p.G1865E|uc009zjg.1,p.G16E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zjg.1	nonsynonymous SNV	exon4	c.G47A	p.G16E	RDSTLHLKEGMKGQLTEASSATSKA	RDSTLHLKEGMKEQLTEASSATSKA	8.0	2.0	-	-	3678_12:26639254-26639254 C>T_RDSTLHLKEGMKEQLTEASSATSKA
6:49986746-49986746 C>T	0.0	3678	MELANOMA	-	-	-	-	DEFB110	uc003pac.3,p.E50K|ENST00000371148,p.E50K|NM_001037497,p.E50K	protein_coding	uc003pac.3	nonsynonymous SNV	exon2	c.G148A	p.E50K	GNGQCKNQCHENEIRIAYCIRPGTH	GNGQCKNQCHENKIRIAYCIRPGTH	1.0	8.0	unscreened	-	3678_6:49986746-49986746 C>T_GNGQCKNQCHENKIRIAYCIRPGTH
21:22582962-22582962 G>A	0.0	3678	MELANOMA	-	-	-	-	NCAM2	uc011acc.2,p.E28K|ENST00000535285,p.E28K	protein_coding, processed_transcript	uc011acc.2	nonsynonymous SNV	exon2	c.G82A	p.E28K	NRQGLFVDWKYNEALYLEEGQPETY	NRQGLFVDWKYNKALYLEEGQPETY	5.0	6.0	unscreened	-	3678_21:22582962-22582962 G>A_NRQGLFVDWKYNKALYLEEGQPETY
3:113380149-113380149 C>T	1.0	3678	MELANOMA	-	-	-	-	KIAA2018	uc003eal.3,p.G71E|ENST00000316407,p.G127E|NM_001009899,p.G127E|ENST00000478658,p.G127E|uc003eam.3,p.G127E	retained_intron, protein_coding	uc003eam.3	nonsynonymous SNV	exon7	c.G380A	p.G127E	ICLYDDPTIHWKGNLKNSKVSVVIP	ICLYDDPTIHWKENLKNSKVSVVIP	7.0	9.0	-	-	3678_3:113380149-113380149 C>T_ICLYDDPTIHWKENLKNSKVSVVIP
2:179596308-179596308 G>C	0.0	3678	MELANOMA	-	-	-	-	TTN	ENST00000591111,p.P5412A|uc021vsy.2,p.P4485A|uc031rqd.1,p.P5412A|ENST00000589042,p.P5729A|NM_133378,p.P4485A|NM_001267550,p.P5729A|uc002umz.1,p.P1146A|uc031rqc.1,p.P5729A|ENST00000342992,p.P4485A|NM_001256850,p.P5412A	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon57	c.C16234G	p.P5412A	SSICSARVTLREPPSFIKKIESTSS	SSICSARVTLREAPSFIKKIESTSS	3.0	9.0	unscreened	-	3678_2:179596308-179596308 G>C_SSICSARVTLREAPSFIKKIESTSS
15:53994410-53994410 A>T	0.0	3678	MELANOMA	-	-	-	-	WDR72	ENST00000360509,p.F497Y|uc010bfi.1,p.F497Y|ENST00000559418,p.F507Y|ENST00000560036,p.F497Y|uc002acj.2,p.F497Y|ENST00000396328,p.F497Y|uc031qse.1,p.F497Y|NM_182758,p.F497Y|ENST00000557913,p.F494Y	protein_coding, processed_transcript	uc031qse.1	nonsynonymous SNV	exon12	c.T1490A	p.F497Y	GDLDSCVILWDIFTEEILHKFFLEA	GDLDSCVILWDIYTEEILHKFFLEA	1.0	1.0	unscreened	-	3678_15:53994410-53994410 A>T_GDLDSCVILWDIYTEEILHKFFLEA
8:120584439-120584439 T>C	0.0	3678	MELANOMA	-	-	-	-	ENPP2	uc011lic.2,p.N124S|uc010mdd.2,p.N611S|NM_001130863,p.N611S|ENST00000522826,p.N611S|ENST00000427067,p.N607S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lic.2	nonsynonymous SNV	exon5	c.A371G	p.N124S	FRGSRNENKENINGNFEPRKERHLL	FRGSRNENKENISGNFEPRKERHLL	8.0	9.0	unscreened	-	3678_8:120584439-120584439 T>C_FRGSRNENKENISGNFEPRKERHLL
22:50717092-50717092 G>A	1.0	3678	MELANOMA	-	-	-	-	PLXNB2	ENST00000411680,p.S79L|uc003bkv.4,p.S1527L|ENST00000359337,p.S1527L|uc003bku.1,p.S512L|uc003bkt.1,p.S319L|NM_012401,p.S1527L|ENST00000449103,p.S1527L	retained_intron, protein_coding, processed_transcript	uc003bkv.4	nonsynonymous SNV	exon29	c.C4580T	p.S1527L	LEWRPGSTAQILSDLDLTSQREGRW	LEWRPGSTAQILLDLDLTSQREGRW	10.0	7.0	-	-	3678_22:50717092-50717092 G>A_LEWRPGSTAQILLDLDLTSQREGRW
15:50336873-50336873 G>A	0.0	3678	MELANOMA	-	-	ID=COSM228624;OCCURENCE=1(skin)	-	ATP8B4	ENST00000558906,p.S73F|ENST00000557955,p.S73F|ENST00000284509,p.S73F|NM_024837,p.S73F|ENST00000559829,p.S73F|ENST00000559726,p.S73F|uc001zxu.3,p.S73F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zxu.3	nonsynonymous SNV	exon5	c.C218T	p.S73F	LCLLILQLIPEISSLTWFTTIVPLV	LCLLILQLIPEIFSLTWFTTIVPLV	4.0	6.0	unscreened	-	3678_15:50336873-50336873 G>A_LCLLILQLIPEIFSLTWFTTIVPLV
14:24723986-24723986 G>A	0.0	3678	MELANOMA	-	-	-	-	TGM1	ENST00000206765,p.H658Y|NM_000359,p.H658Y|ENST00000544573,p.H216Y|uc001wod.3,p.H658Y|uc010tog.2,p.H216Y|ENST00000559669,p.H44Y	protein_coding	uc010tog.2	nonsynonymous SNV	exon7	c.C646T	p.H216Y	VTMPVAYKEYRPHLVDQGAMLLNVS	VTMPVAYKEYRPYLVDQGAMLLNVS	3.0	8.0	unscreened	-	3678_14:24723986-24723986 G>A_VTMPVAYKEYRPYLVDQGAMLLNVS
5:140745770-140745770 G>A	0.0	3678	MELANOMA	-	-	-	-	PCDHGA5	uc003lju.2,p.E625K|NM_018918,p.E625K|ENST00000518069,p.E625K|uc011das.2,p.E625K|NM_032054,p.E625K	protein_coding	uc011das.2	nonsynonymous SNV	exon1	c.G1873A	p.E625K	EPGLFAVGLHTGEVRTARALLDRDA	EPGLFAVGLHTGKVRTARALLDRDA	5.0	8.0	unscreened	-	3678_5:140745770-140745770 G>A_EPGLFAVGLHTGKVRTARALLDRDA
16:734373-734373 C>T	0.0	3678	MELANOMA	-	-	-	-	JMJD8	ENST00000454700,p.G53R|ENST00000293882,p.G53R	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000454700	nonsynonymous SNV	exon1	c.G157A	p.G53R	LPRRRSCRPMAGGWAQGSRRAARLP	LPRRRSCRPMAGRWAQGSRRAARLP	9.0	8.0	unscreened	-	3678_16:734373-734373 C>T_LPRRRSCRPMAGRWAQGSRRAARLP
6:28402433-28402433 G>A	1.0	3678	MELANOMA	-	-	-	-	ZSCAN23	ENST00000289788,p.H327Y|NM_001012455,p.H327Y|uc003nli.4,p.H327Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc003nli.4	nonsynonymous SNV	exon4	c.C979T	p.H327Y	SQNAGLFHHLRIHTGEKPYQCNQCN	SQNAGLFHHLRIYTGEKPYQCNQCN	5.0	3.0	-	-	3678_6:28402433-28402433 G>A_SQNAGLFHHLRIYTGEKPYQCNQCN
19:15083667-15083667 C>A	0.0	3678	MELANOMA	-	-	-	-	SLC1A6	ENST00000544886,p.R19L|uc002nab.4,p.R19L|uc002naa.2,p.R19L|ENST00000601761,p.R19L|uc010dzu.2,p.R19L|NM_001272088,p.R19L|ENST00000598504,p.R19L|NM_001272087,p.R19L|ENST00000600144,p.R19L|uc002nad.1,p.R19L|ENST00000221742,p.R19L|ENST00000595863,p.R19L|ENST00000594383,p.R19L|uc002nac.4,p.R19L|ENST00000597262,p.R19L|NM_005071,p.R19L	retained_intron, protein_coding	uc010dzu.2	nonsynonymous SNV	exon2	c.G56T	p.R19L	SLFLRESGQRLGRVGWLQRLQESLQ	SLFLRESGQRLGLVGWLQRLQESLQ	1.0	9.0	unscreened	-	3678_19:15083667-15083667 C>A_SLFLRESGQRLGLVGWLQRLQESLQ
7:70231204-70231204 C>T	1.0	3678	MELANOMA	-	-	-	-	AUTS2	uc003tvx.4,p.H525Y|NM_015570,p.H525Y|NM_001127231,p.H525Y|uc003tvw.4,p.H525Y|ENST00000406775,p.H525Y|ENST00000342771,p.H525Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003tvx.4	nonsynonymous SNV	exon9	c.C1573T	p.H525Y	SLGPPPYLRTEFHQHQHQHQHTHQH	SLGPPPYLRTEFYQHQHQHQHTHQH	9.0	1.0	-	-	3678_7:70231204-70231204 C>T_SLGPPPYLRTEFYQHQHQHQHTHQH
19:48047952-48047952 G>A	1.0	3678	MELANOMA	-	-	-	-	ZNF541	NM_001277075,p.H612Y|ENST00000448976,p.H612Y|uc010eli.4,p.H426Y|uc002phg.5,p.H612Y|uc010elh.4,p.H426Y|uc010xyt.3,p.H612Y|ENST00000391901,p.H612Y|ENST00000314121,p.H612Y	protein_coding, processed_transcript	uc010xyt.3	nonsynonymous SNV	exon3	c.C1834T	p.H612Y	QPPPLAPAVDSLHAGPGNPEAEGSP	QPPPLAPAVDSLYAGPGNPEAEGSP	5.0	7.0	-	-	3678_19:48047952-48047952 G>A_QPPPLAPAVDSLYAGPGNPEAEGSP
12:72416245-72416245 G>A	0.0	3678	MELANOMA	-	-	-	-	TPH2	uc001swy.2,p.G289R|ENST00000333850,p.G379R|NM_173353,p.G379R|uc009zrw.1,p.G379R	protein_coding, processed_transcript, nonsense_mediated_decay	uc009zrw.1	nonsynonymous SNV	exon9	c.G1135A	p.G379R	CKQEGQLRAYGAGLLSSIGELKHAL	CKQEGQLRAYGARLLSSIGELKHAL	1.0	1.0	unscreened	-	3678_12:72416245-72416245 G>A_CKQEGQLRAYGARLLSSIGELKHAL
10:6557082-6557082 G>A	0.0	3678	MELANOMA	-	-	-	-	PRKCQ	uc001iji.1,p.R39W	protein_coding	uc001iji.1	nonsynonymous SNV	exon1	c.C115T	p.R39W	VFFQGATMSPFLRIGLSNFDCGSCQ	VFFQGATMSPFLWIGLSNFDCGSCQ	4.0	1.0	unscreened	-	3678_10:6557082-6557082 G>A_VFFQGATMSPFLWIGLSNFDCGSCQ
1:209878363-209878363 G>A	0.0	3678	MELANOMA	-	-	-	-	HSD11B1	uc001hhk.3,p.E26K|ENST00000367028,p.E26K|NM_181755,p.E26K|NM_001206741,p.E26K|NM_005525,p.E26K|uc001hhj.3,p.E26K|ENST00000367027,p.E26K|uc021pin.1,p.E26K|ENST00000261465,p.E26K	protein_coding	uc021pin.1	nonsynonymous SNV	exon2	c.G76A	p.E26K	LFMAYYYYSANEEFRPEMLQGKKVI	LFMAYYYYSANEKFRPEMLQGKKVI	5.0	8.0	unscreened	-	3678_1:209878363-209878363 G>A_LFMAYYYYSANEKFRPEMLQGKKVI
7:75401481-75401481 G>A	0.0	3678	MELANOMA	-	-	-	-	CCL26	NM_006072,p.S5F|ENST00000394905,p.S5F|ENST00000005180,p.S5F|uc003udt.1,p.S5F	protein_coding	uc003udt.1	nonsynonymous SNV	exon2	c.C14T	p.S5F	MMGLSLASAVLLASLLS	MMGLFLASAVLLASLLS	2.0	1.0	unscreened	-	3678_7:75401481-75401481 G>A_MMGLFLASAVLLASLLS
12:75698595-75698595 G>A	0.0	3678	MELANOMA	-	-	-	-	CAPS2	uc001sxm.3,p.L28F|uc001sxj.4,p.L203F|ENST00000393284,p.L28F|NM_001286548,p.L28F|ENST00000552497,p.L155F|uc001sxl.3,p.L241F|ENST00000409799,p.L210F|ENST00000409445,p.L260F|uc001sxi.4,p.L28F|NM_032606,p.L260F|uc001sxk.4,p.L260F|NM_001286547,p.L210F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sxm.3	nonsynonymous SNV	exon9	c.C82T	p.L28F	NLAIEQKESDHILPDSKMTPLRFRK	NLAIEQKESDHIFPDSKMTPLRFRK	7.0	1.0	unscreened	-	3678_12:75698595-75698595 G>A_NLAIEQKESDHIFPDSKMTPLRFRK
7:100677114-100677114 C>T	0.0	3678	MELANOMA	-	-	-	-	MUC17	uc003uxp.1,p.P806L|ENST00000306151,p.P806L|ENST00000379439,p.P806L|NM_001040105,p.P806L	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.C2417T	p.P806L	TSMPISTPSEGSPLLTSIPVSITPV	TSMPISTPSEGSLLLTSIPVSITPV	1.0	10.0	unscreened	-	3678_7:100677114-100677114 C>T_TSMPISTPSEGSLLLTSIPVSITPV
20:43883162-43883162 G>A	0.0	3678	MELANOMA	-	-	-	-	SLPI	ENST00000338380,p.P8L|uc002xnm.1,p.P8L|NM_003064,p.P8L	protein_coding	uc002xnm.1	nonsynonymous SNV	exon1	c.C23T	p.P8L	MKSSGLFPFLVLLALGTLAP	MKSSGLFLFLVLLALGTLAP	1.0	1.0	unscreened	-	3678_20:43883162-43883162 G>A_MKSSGLFLFLVLLALGTLAP
11:57983115-57983115 C>T	0.0	3678	MELANOMA	-	-	-	-	OR1S1	uc010rkc.2,p.P300L|NM_001004458,p.P300L|ENST00000309433,p.P300L	protein_coding	uc010rkc.2	nonsynonymous SNV	exon1	c.C899T	p.P300L	AVLFTVVTPMINPFIYSLRNKDMKG	AVLFTVVTPMINLFIYSLRNKDMKG	1.0	9.0	unscreened	-	3678_11:57983115-57983115 C>T_AVLFTVVTPMINLFIYSLRNKDMKG
1:183486888-183486888 C>T	1.0	3678	MELANOMA	-	-	-	-	SMG7	uc001gqf.3,p.P82L|ENST00000508461,p.P40L|uc001gqh.3,p.P82L|ENST00000367537,p.P111L|uc001gqg.3,p.P82L|ENST00000515829,p.P82L|NM_201568,p.P82L|ENST00000456731,p.P40L|ENST00000440812,p.P82L|NM_201569,p.P82L|uc010pob.2,p.P111L|NM_001174061,p.P40L|ENST00000507469,p.P82L|uc021pga.1,p.P40L|NM_173156,p.P82L|ENST00000347615,p.P82L|uc010poc.2,p.P40L|ENST00000419169,p.P40L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pga.1	nonsynonymous SNV	exon3	c.C119T	p.P40L	TTLQGQAKNRANPNRSEVQANLSLF	TTLQGQAKNRANLNRSEVQANLSLF	9.0	6.0	-	-	3678_1:183486888-183486888 C>T_TTLQGQAKNRANLNRSEVQANLSLF
8:87242418-87242418 C>T	0.0	3678	MELANOMA	-	-	ID=COSM224349;OCCURENCE=1(skin)	-	SLC7A13	ENST00000297524,p.G30E|uc003ydr.1,p.G30E|uc003ydq.1,p.G30E|NM_138817,p.G30E|ENST00000419776,p.G30E	protein_coding, processed_transcript	uc003ydr.1	nonsynonymous SNV	exon1	c.G89A	p.G30E	GTSFLLINIIGAGIFVSPKGVLAYS	GTSFLLINIIGAEIFVSPKGVLAYS	1.0	3.0	unscreened	-	3678_8:87242418-87242418 C>T_GTSFLLINIIGAEIFVSPKGVLAYS
18:77806030-77806030 G>A	1.0	3678	MELANOMA	-	-	-	-	RBFA	ENST00000306735,p.D303N|NM_024805,p.D303N|uc002lns.3,p.D303N	retained_intron, protein_coding, processed_transcript	uc002lns.3	nonsynonymous SNV	exon7	c.G907A	p.D303N	SLKSYLSGEEVEDDLDLVGAPEYEC	SLKSYLSGEEVENDLDLVGAPEYEC	8.0	4.0	-	-	3678_18:77806030-77806030 G>A_SLKSYLSGEEVENDLDLVGAPEYEC
7:82785022-82785022 C>A	1.0	3678	MELANOMA	-	-	-	-	PCLO	ENST00000333891,p.G312V|uc003uhx.2,p.G312V|NM_014510,p.G312V|ENST00000423517,p.G312V|NM_033026,p.G312V|uc003uhv.2,p.G312V	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon2	c.G935T	p.G312V	SPSKPPIQQPTPGKPPAQQPGHEKS	SPSKPPIQQPTPVKPPAQQPGHEKS	7.0	9.0	-	-	3678_7:82785022-82785022 C>A_SPSKPPIQQPTPVKPPAQQPGHEKS
X:115304026-115304026 C>T	0.0	3678	MELANOMA	-	-	ID=COSM231727;OCCURENCE=1(skin)	-	AGTR2	NM_000686,p.P165S|uc022cdd.1,p.P165S|ENST00000371906,p.P165S|uc004eqh.4,p.P165S	protein_coding	uc022cdd.1	nonsynonymous SNV	exon1	c.C493T	p.P165S	QRRNPWQASYIVPLVWCMACLSSLP	QRRNPWQASYIVSLVWCMACLSSLP	1.0	9.0	unscreened	-	3678_X:115304026-115304026 C>T_QRRNPWQASYIVSLVWCMACLSSLP
3:121641632-121641632 C>T	0.0	3678	MELANOMA	-	-	-	-	SLC15A2	ENST00000295605,p.S233F|ENST00000489711,p.S264F|uc003eep.2,p.S264F|NM_021082,p.S264F|uc011bjn.1,p.S233F|NM_001145998,p.S233F	protein_coding, processed_transcript	uc011bjn.1	nonsynonymous SNV	exon8	c.C698T	p.S233F	VAQVFKCIWFAISNRFKNRSGDIPK	VAQVFKCIWFAIFNRFKNRSGDIPK	3.0	3.0	unscreened	-	3678_3:121641632-121641632 C>T_VAQVFKCIWFAIFNRFKNRSGDIPK
7:122635433-122635433 C>T	0.0	3678	MELANOMA	-	-	-	-	TAS2R16	uc003vkl.1,p.E86K|NM_016945,p.E86K|ENST00000249284,p.E86K	protein_coding	uc003vkl.1	nonsynonymous SNV	exon1	c.G256A	p.E86K	LNYVLCNLTITWEFFNILTFWLNSL	LNYVLCNLTITWKFFNILTFWLNSL	1.0	1.0	unscreened	-	3678_7:122635433-122635433 C>T_LNYVLCNLTITWKFFNILTFWLNSL
7:128317802-128317802 G>A	1.0	3678	MELANOMA	-	-	-	-	FAM71F2	ENST00000480462,p.D184N|NM_001012454,p.D184N|uc003vnk.4,p.D184N|NM_001128926,p.D175N|uc010llm.1,p.D175N|ENST00000434001,p.D175N|NM_001290255,p.D89N|ENST00000474069,p.D175N|ENST00000378704,p.D175N|NM_001290254,p.D89N	protein_coding, processed_transcript	uc010llm.1	nonsynonymous SNV	exon3	c.G523A	p.D175N	KILQKGLSITTKDPRIKFTHCLVPK	KILQKGLSITTKNPRIKFTHCLVPK	5.0	1.0	-	-	3678_7:128317802-128317802 G>A_KILQKGLSITTKNPRIKFTHCLVPK
20:50715039-50715039 G>A	0.0	3678	MELANOMA	-	-	-	-	ZFP64	ENST00000395989,p.P87L|ENST00000361387,p.P284L|ENST00000371518,p.P284L|NM_199427,p.P284L|ENST00000395979,p.P87L|uc002xwj.3,p.P65L|uc002xwk.3,p.P284L|ENST00000371523,p.P65L	protein_coding, processed_transcript	uc002xwk.3	nonsynonymous SNV	exon6	c.C851T	p.P284L	STDTPKAPVITLPSEAREQMATLGE	STDTPKAPVITLLSEAREQMATLGE	7.0	3.0	unscreened	-	3678_20:50715039-50715039 G>A_STDTPKAPVITLLSEAREQMATLGE
1:248651941-248651941 C>T	0.0	3678	MELANOMA	-	-	-	-	OR2T5	ENST00000366473,p.L18F|NM_001004697,p.L18F|uc001iem.1,p.L18F	protein_coding	uc001iem.1	nonsynonymous SNV	exon1	c.C52T	p.L18F	RMANHTGKLDFILMGLFRRSKHPAL	RMANHTGKLDFIFMGLFRRSKHPAL	1.0	4.0	unscreened	-	3678_1:248651941-248651941 C>T_RMANHTGKLDFIFMGLFRRSKHPAL
4:74442388-74442388 G>A	0.0	3678	MELANOMA	-	-	-	-	RASSF6	ENST00000335049,p.S249F|ENST00000307439,p.S261F|uc010iik.2,p.S227F|uc003hhc.2,p.S261F|NM_001270391,p.S227F|ENST00000395777,p.S227F|ENST00000342081,p.S293F|NM_177532,p.S261F|NM_001270392,p.S249F|NM_201431,p.S293F|uc010iil.2,p.S249F|uc003hhd.2,p.S293F	protein_coding, processed_transcript	uc010iil.2	nonsynonymous SNV	exon8	c.C746T	p.S249F	DIPLLQRLLQGPSEKNARIFLMDKD	DIPLLQRLLQGPFEKNARIFLMDKD	1.0	2.0	unscreened	-	3678_4:74442388-74442388 G>A_DIPLLQRLLQGPFEKNARIFLMDKD
12:15262415-15262415 C>A	0.0	3678	MELANOMA	-	-	-	-	RERG	NM_032918,p.G77W|ENST00000545567,p.G90W|uc001rcs.3,p.G77W|uc010shu.2,p.G58W|NM_001190726,p.G58W|ENST00000256953,p.G77W|uc001rct.3,p.G77W|ENST00000546331,p.G58W|ENST00000536465,p.G77W|ENST00000538313,p.G77W	retained_intron, protein_coding, processed_transcript	uc010shu.2	nonsynonymous SNV	exon4	c.G172T	p.G58W	EDTIQREGHMRWGEGFVLVYDITDR	EDTIQREGHMRWWEGFVLVYDITDR	4.0	8.0	unscreened	-	3678_12:15262415-15262415 C>A_EDTIQREGHMRWWEGFVLVYDITDR
12:10962152-10962152 G>A	0.0	3678	MELANOMA	-	-	-	-	TAS2R9	ENST00000240691,p.P175S|NM_023917,p.P175S|uc001qyx.3,p.P175S	protein_coding	uc001qyx.3	nonsynonymous SNV	exon1	c.C523T	p.P175S	ENITWKFKVSKIPGTFKQLTLNLGV	ENITWKFKVSKISGTFKQLTLNLGV	1.0	3.0	unscreened	-	3678_12:10962152-10962152 G>A_ENITWKFKVSKISGTFKQLTLNLGV
1:12835203-12835203 C>T	0.0	3678	MELANOMA	-	-	ID=COSM229855;OCCURENCE=1(NS)	-	PRAMEF12	NM_001080830,p.P65S|ENST00000357726,p.P65S|uc001aui.3,p.P65S	protein_coding	uc001aui.3	nonsynonymous SNV	exon1	c.C193T	p.P65S	TTMVQAWPFTCLPLGSLMKSCNLEI	TTMVQAWPFTCLSLGSLMKSCNLEI	1.0	10.0	unscreened	-	3678_1:12835203-12835203 C>T_TTMVQAWPFTCLSLGSLMKSCNLEI
1:205273257-205273257 T>C	0.0	3678	MELANOMA	-	-	-	-	NUAK2	ENST00000367157,p.N403S|NM_030952,p.N403S|uc001hce.3,p.N403S	protein_coding	uc001hce.3	nonsynonymous SNV	exon7	c.A1208G	p.N403S	TADDTAHRPGKSNLKLPKGILKKKV	TADDTAHRPGKSSLKLPKGILKKKV	5.0	3.0	unscreened	-	3678_1:205273257-205273257 T>C_TADDTAHRPGKSSLKLPKGILKKKV
16:21051225-21051225 G>A	0.0	3678	MELANOMA	-	-	-	-	DNAH3	ENST00000261383,p.A1560V|uc010vbe.2,p.A1560V|ENST00000415178,p.A1560V|NM_017539,p.A1560V	retained_intron, protein_coding, processed_transcript	uc010vbe.2	nonsynonymous SNV	exon33	c.C4679T	p.A1560V	LFRTVAMMVPDYALIGEISLYSMGF	LFRTVAMMVPDYVLIGEISLYSMGF	1.0	1.0	unscreened	-	3678_16:21051225-21051225 G>A_LFRTVAMMVPDYVLIGEISLYSMGF
17:7726863-7726863 G>A	0.0	3678	MELANOMA	-	-	-	-	DNAH2	ENST00000575105,p.G698E|NM_020877,p.G3749E|uc010cnm.1,p.G687E|ENST00000389173,p.G3749E|uc002giu.1,p.G3749E|ENST00000572933,p.G3749E	retained_intron, protein_coding, nonsense_mediated_decay	uc010cnm.1	nonsynonymous SNV	exon15	c.G2060A	p.G687E	NITELDKLTNFHGLMNSFEQYPRDW	NITELDKLTNFHELMNSFEQYPRDW	1.0	6.0	unscreened	-	3678_17:7726863-7726863 G>A_NITELDKLTNFHELMNSFEQYPRDW
4:186427718-186427718 C>T	1.0	3678	MELANOMA	-	-	-	-	PDLIM3	ENST00000284771,p.G203S|uc031sia.1,p.G163S|NM_001257962,p.G163S|NM_014476,p.G251S|uc003ixx.4,p.G203S|uc031sib.1,p.G84S|NM_001114107,p.G203S|ENST00000284770,p.G251S|uc003ixw.4,p.G251S|NM_001257963,p.G84S	retained_intron, protein_coding, nonsense_mediated_decay	uc031sib.1	nonsynonymous SNV	exon3	c.G250A	p.G84S	DNRNEPTQPRQSGSFRVLQGMVDDG	DNRNEPTQPRQSSSFRVLQGMVDDG	5.0	6.0	-	-	3678_4:186427718-186427718 C>T_DNRNEPTQPRQSSSFRVLQGMVDDG
11:5862498-5862498 C>A	0.0	3678	MELANOMA	-	-	-	-	OR52E6	uc010qzq.2,p.L210F|ENST00000379946,p.L214F|NM_001005167,p.L210F|ENST00000329322,p.L210F	protein_coding	uc010qzq.2	nonsynonymous SNV	exon1	c.G630T	p.L210F	IMFGLGSISLLLLDVLLIILSHIRI	IMFGLGSISLLLFDVLLIILSHIRI	1.0	4.0	unscreened	-	3678_11:5862498-5862498 C>A_IMFGLGSISLLLFDVLLIILSHIRI
3:175189445-175189445 C>A	0.0	3678	MELANOMA	-	-	-	-	NAALADL2	NM_207015,p.Q518K|uc010hwy.2,p.Q277K|uc003fiu.1,p.Q511K|uc010hwz.1,p.Q112K|ENST00000454872,p.Q518K|uc003fit.3,p.Q518K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hwz.1	nonsynonymous SNV	exon6	c.C334A	p.Q112K	SYEWGEDFKKVLQKNVVAYISLHSP	SYEWGEDFKKVLKKNVVAYISLHSP	9.0	4.0	unscreened	-	3678_3:175189445-175189445 C>A_SYEWGEDFKKVLKKNVVAYISLHSP
19:15198526-15198526 C>T	0.0	3678	MELANOMA	-	-	-	-	OR1I1	NM_001004713,p.S217L|ENST00000209540,p.S217L|uc010xoe.2,p.S217L	protein_coding	uc010xoe.2	nonsynonymous SNV	exon1	c.C650T	p.S217L	VVGTSPFSCILLSYIRIFWTVFKIP	VVGTSPFSCILLLYIRIFWTVFKIP	1.0	5.0	unscreened	-	3678_19:15198526-15198526 C>T_VVGTSPFSCILLLYIRIFWTVFKIP
3:111870731-111870731 G>A	0.0	3678	MELANOMA	-	-	-	-	SLC9C1	uc010hqc.3,p.S1118F|ENST00000487372,p.S1118F|uc003dyu.3,p.S1166F|NM_183061,p.S1166F|uc011bhu.2,p.S429F|ENST00000305815,p.S1166F	protein_coding, processed_transcript, nonsense_mediated_decay	uc011bhu.2	nonsynonymous SNV	exon21	c.C1286T	p.S429F	CSLLGTKFNCKESPRINLRKVRKE	CSLLGTKFNCKEFPRINLRKVRKE	4.0	1.0	unscreened	-	3678_3:111870731-111870731 G>A_CSLLGTKFNCKEFPRINLRKVRKE
16:2282243-2282243 C>T	1.0	3678	MELANOMA	-	-	-	-	E4F1	NM_001288778,p.P163S|NM_001288776,p.P163S|NM_004424,p.P163S	retained_intron, protein_coding, nonsense_mediated_decay	NM_004424	nonsynonymous SNV	exon4	c.C487T	p.P163S	EAELGDGEMAEAPGSPHQQGLGLAG	EAELGDGEMAEASGSPHQQGLGLAG	6.0	9.0	unscreened	-	3678_16:2282243-2282243 C>T_EAELGDGEMAEASGSPHQQGLGLAG
X:10188757-10188757 G>A	0.0	3678	MELANOMA	-	-	-	-	CLCN4	NM_001256944,p.E584K|NM_001830,p.E678K|ENST00000421085,p.E584K|ENST00000380833,p.E678K|uc011mid.3,p.E584K|ENST00000380829,p.E647K|uc004csy.4,p.E678K	protein_coding	uc011mid.3	nonsynonymous SNV	exon10	c.G1750A	p.E584K	EGIVSNSIMYFTEEPPELPANSPHP	EGIVSNSIMYFTKEPPELPANSPHP	4.0	8.0	unscreened	-	3678_X:10188757-10188757 G>A_EGIVSNSIMYFTKEPPELPANSPHP
3:7456730-7456730 T>A	0.0	3678	MELANOMA	-	-	-	-	GRM7	ENST00000445087,p.S9T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000445087	nonsynonymous SNV	exon2	c.T25A	p.S9T	MGFDAYFTSRTLENNRRNVWF	MGFDAYFTTRTLENNRRNVWF	3.0	4.0	unscreened	-	3678_3:7456730-7456730 T>A_MGFDAYFTTRTLENNRRNVWF
3:7456730-7456730 T>A	0.0	3678	MELANOMA	-	-	-	-	GRM7	ENST00000357716,p.S352T|uc010hcg.2,p.S352T|ENST00000389335,p.S352T|ENST00000403881,p.S352T|uc003bqm.2,p.S352T|ENST00000389336,p.S352T|ENST00000402647,p.S352T|NM_000844,p.S352T|NM_181874,p.S352T|ENST00000467425,p.S352T|ENST00000486284,p.S352T|ENST00000440923,p.S352T|uc003bql.2,p.S352T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hcg.2	nonsynonymous SNV	exon5	c.T1054A	p.S352T	RATVEGFDAYFTSRTLENNRRNVWF	RATVEGFDAYFTTRTLENNRRNVWF	3.0	4.0	unscreened	-	3678_3:7456730-7456730 T>A_RATVEGFDAYFTTRTLENNRRNVWF
12:132474551-132474551 C>T	1.0	3678	MELANOMA	0.0005	-	-	-	EP400	ENST00000389562,p.R817C|uc001ujm.3,p.R818C|uc001ujk.3,p.R854C|NM_015409,p.R818C|ENST00000330386,p.R818C|uc001ujn.3,p.R818C|uc001ujj.2,p.R781C|ENST00000333577,p.R854C|ENST00000389561,p.R818C|ENST00000332482,p.R781C	protein_coding, processed_transcript	uc001ujn.3	nonsynonymous SNV	exon8	c.C2452T	p.R818C	RTVVRHHEEKQLREERGKKEEQSRL	RTVVRHHEEKQLCEERGKKEEQSRL	7.0	1.0	-	-	3678_12:132474551-132474551 C>T_RTVVRHHEEKQLCEERGKKEEQSRL
12:20885888-20885888 G>A	0.0	3678	MELANOMA	-	-	ID=COSM1146971,COSM692869;OCCURENCE=1(lung)	-	SLCO1C1	uc001rei.3,p.G411E|uc009zip.3,p.G245E|NM_001145944,p.G293E|ENST00000545102,p.G293E|ENST00000381552,p.G411E|uc010sii.2,p.G411E|ENST00000266509,p.G411E|NM_001145945,p.G362E|NM_017435,p.G411E|ENST00000540354,p.G362E|uc010sik.2,p.G293E|ENST00000545604,p.G411E|NM_001145946,p.G411E|uc010sij.2,p.G362E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sik.2	nonsynonymous SNV	exon8	c.G878A	p.G293E	NIPAVALGIFSGGIVMKKFRISVCG	NIPAVALGIFSGEIVMKKFRISVCG	4.0	3.0	unscreened	-	3678_12:20885888-20885888 G>A_NIPAVALGIFSGEIVMKKFRISVCG
3:55922483-55922483 T>C	0.0	3678	MELANOMA	-	-	-	-	ERC2	uc021wzo.1,p.K833R|ENST00000288221,p.K833R|uc003dht.1,p.K312R|ENST00000460849,p.K833R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wzo.1	nonsynonymous SNV	exon13	c.A2498G	p.K833R	ARLASTQQSLAEKEAHLANLRIERR	ARLASTQQSLAEREAHLANLRIERR	2.0	6.0	unscreened	-	3678_3:55922483-55922483 T>C_ARLASTQQSLAEREAHLANLRIERR
10:98156964-98156964 C>T	0.0	3678	MELANOMA	-	-	-	-	TLL2	uc009xvf.2,p.G433S|NM_012465,p.G455S|uc001kml.2,p.G455S|ENST00000357947,p.G455S	protein_coding, processed_transcript	uc009xvf.2	nonsynonymous SNV	exon11	c.G1297A	p.G433S	VEFRSSSNILGKGFFAAYEATCGGD	VEFRSSSNILGKSFFAAYEATCGGD	1.0	10.0	unscreened	-	3678_10:98156964-98156964 C>T_VEFRSSSNILGKSFFAAYEATCGGD
17:37333631-37333633 GCA>-	0.0	3678	MELANOMA	-	-	-	-	CACNB1	NM_199247,p.479_480del|ENST00000394310,p.434_435del|NM_199248,p.434_435del|ENST00000344140,p.479_480del|uc002hrn.3,p.434_435del|uc002hro.3,p.479_480del	retained_intron, protein_coding, processed_transcript	uc002hro.3	nonframeshift deletion	exon13	c.1437_1439del	p.479_480del	PLLNRTMATAALAASPAPVSNLQVQ	PLLNRTMATAALASPAPVSNLQVQV	5.0	3.0	unscreened	-	3678_17:37333631-37333633 GCA>-_PLLNRTMATAALASPAPVSNLQVQV
10:115413821-115413821 C>T	0.0	3678	MELANOMA	-	-	ID=COSM914929;OCCURENCE=2(endometrium)	-	NRAP	uc001lal.4,p.E142K|uc001laj.4,p.E142K|ENST00000359988,p.E142K|ENST00000369360,p.E142K|NM_001261463,p.E142K|uc001lak.4,p.E142K|ENST00000369358,p.E142K|NM_198060,p.E142K|NM_006175,p.E142K|ENST00000360478,p.E142K	protein_coding	uc001lal.4	nonsynonymous SNV	exon5	c.G424A	p.E142K	GNAWCPGALPDPEIVRMVEARKSLG	GNAWCPGALPDPKIVRMVEARKSLG	1.0	10.0	unscreened	-	3678_10:115413821-115413821 C>T_GNAWCPGALPDPKIVRMVEARKSLG
5:78347127-78347127 C>T	0.0	3678	MELANOMA	-	-	-	-	DMGDH	uc011cte.1,p.R93K|ENST00000523732,p.R82K|ENST00000255189,p.R243K|uc003kfs.3,p.R243K|NM_013391,p.R243K	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cte.1	nonsynonymous SNV	exon2	c.G278A	p.R93K	DVETPQGSMRANRIVNAAGFWAREV	DVETPQGSMRANKIVNAAGFWAREV	6.0	2.0	unscreened	-	3678_5:78347127-78347127 C>T_DVETPQGSMRANKIVNAAGFWAREV
19:11417403-11417403 G>A	0.0	3678	MELANOMA	-	-	ID=COSM1740578;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	TSPAN16	uc002mqw.2,p.S29L	protein_coding, nonsense_mediated_decay	uc002mqw.2	nonsynonymous SNV	exon2	c.C86T	p.S29L	PVTFWWMTFGDTSRPSQDTLPMDLQ	PVTFWWMTFGDTLRPSQDTLPMDLQ	1.0	2.0	unscreened	-	3678_19:11417403-11417403 G>A_PVTFWWMTFGDTLRPSQDTLPMDLQ
2:167129267-167129267 C>T	0.0	3678	MELANOMA	-	-	-	-	SCN9A	ENST00000375387,p.G999E|ENST00000409672,p.G987E|uc010fpl.3,p.G987E|ENST00000409435,p.G998E|ENST00000303354,p.G999E|NM_002977,p.G987E	retained_intron, protein_coding	uc010fpl.3	nonsynonymous SNV	exon17	c.G2960A	p.G987E	NNLQIAVTRIKKGINYVKQTLREFI	NNLQIAVTRIKKEINYVKQTLREFI	1.0	9.0	unscreened	-	3678_2:167129267-167129267 C>T_NNLQIAVTRIKKEINYVKQTLREFI
8:35406833-35406833 C>T	0.0	3678	MELANOMA	-	-	-	-	UNC5D	ENST00000453357,p.P38S|uc003xjs.2,p.P38S	retained_intron, protein_coding	uc003xjs.2	nonsynonymous SNV	exon2	c.C112T	p.P38S	QTSPGTDNGEALPESIPSAPGTLPH	QTSPGTDNGEALSESIPSAPGTLPH	1.0	9.0	unscreened	-	3678_8:35406833-35406833 C>T_QTSPGTDNGEALSESIPSAPGTLPH
8:35406833-35406833 C>T	0.0	3678	MELANOMA	-	-	-	-	UNC5D	ENST00000404895,p.P43S|ENST00000416672,p.P43S|ENST00000420357,p.P43S|ENST00000287272,p.P43S|uc003xjr.2,p.P43S|NM_080872,p.P43S	retained_intron, protein_coding	uc003xjr.2	nonsynonymous SNV	exon2	c.C127T	p.P43S	AAARGTDNGEALPESIPSAPGTLPH	AAARGTDNGEALSESIPSAPGTLPH	1.0	9.0	unscreened	-	3678_8:35406833-35406833 C>T_AAARGTDNGEALSESIPSAPGTLPH
7:131982915-131982915 G>A	0.0	3678	MELANOMA	-	-	-	-	PLXNA4	uc003vra.4,p.P480S|ENST00000359827,p.P480S|ENST00000321063,p.P480S|NM_020911,p.P480S	retained_intron, protein_coding	uc003vra.4	nonsynonymous SNV	exon4	c.C1438T	p.P480S	LQYETVQVVDPGPVLRDMAFSKDHE	LQYETVQVVDPGSVLRDMAFSKDHE	1.0	1.0	unscreened	-	3678_7:131982915-131982915 G>A_LQYETVQVVDPGSVLRDMAFSKDHE
17:37333631-37333633 GCA>-	0.0	3678	MELANOMA	-	-	-	-	CACNB1	NM_000723,p.434_435del|ENST00000394303,p.434_435del|uc002hrl.1,p.206_207del|uc002hrm.2,p.434_435del	retained_intron, protein_coding, processed_transcript	uc002hrm.2	nonframeshift deletion	exon13	c.1302_1304del	p.434_435del	PLLNRTMATAALAASPAPVSNLQGP	PLLNRTMATAALASPAPVSNLQGPY	5.0	3.0	unscreened	-	3678_17:37333631-37333633 GCA>-_PLLNRTMATAALASPAPVSNLQGPY
19:15839422-15839422 G>A	0.0	3678	MELANOMA	-	-	-	-	OR10H2	uc002nbm.2,p.G190E|ENST00000305899,p.G190E|NM_013939,p.G190E	protein_coding	uc002nbm.2	nonsynonymous SNV	exon1	c.G569A	p.G190E	LCHVPPLLKLACGNNVPAVALGVGL	LCHVPPLLKLACENNVPAVALGVGL	1.0	6.0	unscreened	-	3678_19:15839422-15839422 G>A_LCHVPPLLKLACENNVPAVALGVGL
2:166183417-166183417 C>T	0.0	3678	MELANOMA	-	-	-	-	SCN2A	uc002udc.3,p.S691F|ENST00000375437,p.S691F|ENST00000375427,p.S691F|ENST00000283256,p.S691F|uc002udd.3,p.S691F|uc002ude.3,p.S691F|NM_001040142,p.S691F|NM_021007,p.S691F|NM_001040143,p.S691F|ENST00000357398,p.S691F	retained_intron, protein_coding	uc002ude.3	nonsynonymous SNV	exon12	c.C2072T	p.S691F	EIRKRRSSSYHVSMDLLEDPTSRQR	EIRKRRSSSYHVFMDLLEDPTSRQR	1.0	9.0	unscreened	-	3678_2:166183417-166183417 C>T_EIRKRRSSSYHVFMDLLEDPTSRQR
3:184045024-184045024 G>A	1.0	3678	MELANOMA	-	-	-	-	EIF4G1	uc003fnv.4,p.R1151Q|uc003fnr.3,p.R986Q|NM_004953,p.R955Q|uc003fnw.3,p.R1157Q|NM_001194947,p.R1157Q|ENST00000424196,p.R1157Q|uc003fnp.3,p.R1150Q|uc010hxy.3,p.R1157Q|ENST00000427845,p.R1064Q|uc003fns.3,p.R1110Q|ENST00000382330,p.R1157Q|NM_001194946,p.R1157Q|uc010hxx.3,p.R1157Q|ENST00000414031,p.R1110Q|ENST00000346169,p.R1150Q|ENST00000319274,p.R1150Q|NM_198242,p.R986Q|NM_001291157,p.R1110Q|uc003fnq.3,p.R1063Q|ENST00000441154,p.R987Q|ENST00000434061,p.R955Q|uc003fnt.3,p.R861Q|ENST00000411531,p.R1111Q|uc003fnx.3,p.R955Q|ENST00000342981,p.R1151Q|ENST00000352767,p.R1157Q|ENST00000392537,p.R1063Q|ENST00000435046,p.R954Q|NM_198244,p.R1063Q|NM_182917,p.R1151Q|NM_198241,p.R1150Q|ENST00000350481,p.R986Q	retained_intron, protein_coding, nonsense_mediated_decay	uc010hxy.3	nonsynonymous SNV	exon24	c.G3470A	p.R1157Q	RRVVQRSSLSRERGEKAGDRGDRLE	RRVVQRSSLSREQGEKAGDRGDRLE	10.0	2.0	-	-	3678_3:184045024-184045024 G>A_RRVVQRSSLSREQGEKAGDRGDRLE
11:99932099-99932099 C>T	0.0	3678	MELANOMA	-	-	ID=COSM1721721,COSM1721720;OCCURENCE=2(NS)	-	CNTN5	uc021qpc.1,p.S305F|NM_001243270,p.S379F|uc021qpb.1,p.S379F|uc001pfz.3,p.S379F|ENST00000527185,p.S379F|uc001pga.3,p.S379F|ENST00000418526,p.S305F|NM_001243271,p.S379F|ENST00000528682,p.S379F|ENST00000524871,p.S379F|NM_014361,p.S379F|NM_175566,p.S305F|uc009ywv.2,p.S379F|ENST00000279463,p.S379F	retained_intron, protein_coding, processed_transcript	uc021qpc.1	nonsynonymous SNV	exon7	c.C914T	p.S305F	YECRAENSRGKNSFRGQLQVYTYPH	YECRAENSRGKNFFRGQLQVYTYPH	1.0	7.0	unscreened	-	3678_11:99932099-99932099 C>T_YECRAENSRGKNFFRGQLQVYTYPH
19:57646599-57646599 C>T	0.0	3678	MELANOMA	-	-	-	-	ZIM3	ENST00000269834,p.G369E|uc002qnz.1,p.G369E|NM_052882,p.G369E	protein_coding	uc002qnz.1	nonsynonymous SNV	exon5	c.G1106A	p.G369E	HTGKRAYECDLCGNTFIQKKNLIQH	HTGKRAYECDLCENTFIQKKNLIQH	1.0	6.0	unscreened	-	3678_19:57646599-57646599 C>T_HTGKRAYECDLCENTFIQKKNLIQH
3:151163918-151163918 G>A	0.0	3678	MELANOMA	-	-	-	-	IGSF10	uc011bod.2,p.P1284L|NM_178822,p.P1284L|ENST00000282466,p.P1284L	protein_coding, processed_transcript	uc011bod.2	nonsynonymous SNV	exon4	c.C3851T	p.P1284L	HTTTKTHNPGSLPTKKELPFPPLNP	HTTTKTHNPGSLLTKKELPFPPLNP	4.0	8.0	unscreened	-	3678_3:151163918-151163918 G>A_HTTTKTHNPGSLLTKKELPFPPLNP
16:2282243-2282243 C>T	1.0	3678	MELANOMA	-	-	-	-	E4F1	uc010bsj.3,p.P163S|ENST00000564139,p.P163S|uc002cpm.3,p.P163S|uc010bsi.3,p.P163S|ENST00000565413,p.P141S|ENST00000565090,p.P163S|ENST00000301727,p.P163S	retained_intron, protein_coding, nonsense_mediated_decay	uc010bsj.3	nonsynonymous SNV	exon4	c.C487T	p.P163S	EAELGDGEMAEAPGSPRQQGLGLAG	EAELGDGEMAEASGSPRQQGLGLAG	6.0	9.0	unscreened	-	3678_16:2282243-2282243 C>T_EAELGDGEMAEASGSPRQQGLGLAG
1:47403800-47403800 C>T	0.0	3678	MELANOMA	-	-	-	-	CYP4A11	ENST00000310638,p.D69N|uc001cqq.2,p.D69N|ENST00000371905,p.D69N|uc001cqp.4,p.D69N|NM_000778,p.D69N|ENST00000371904,p.D69N	protein_coding, processed_transcript	uc001cqq.2	nonsynonymous SNV	exon2	c.G205A	p.D69N	HWLFGHIQELQQDQELQRIQKWVET	HWLFGHIQELQQNQELQRIQKWVET	1.0	10.0	unscreened	-	3678_1:47403800-47403800 C>T_HWLFGHIQELQQNQELQRIQKWVET
17:80373484-80373484 G>A	1.0	3678	MELANOMA	-	-	-	-	OGFOD3	NM_175902,p.P32S|ENST00000329197,p.P32S|NM_024648,p.P32S|ENST00000580445,p.P32S|uc002ket.2,p.P32S|uc002keu.2,p.P32S|ENST00000313056,p.P32S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002keu.2	nonsynonymous SNV	exon2	c.C94T	p.P32S	RRNRSSTKKDRAPREVQRLWQRPWL	RRNRSSTKKDRASREVQRLWQRPWL	8.0	7.0	-	-	3678_17:80373484-80373484 G>A_RRNRSSTKKDRASREVQRLWQRPWL
X:104463994-104463994 G>A	0.0	3678	MELANOMA	-	-	-	-	TEX13A	uc004emb.3,p.S295F|ENST00000372578,p.S295F|ENST00000372575,p.S295F	protein_coding	uc004emb.3	nonsynonymous SNV	exon3	c.C884T	p.S295F	TPGPEPHQNLFLSSSLPHTHTHTQA	TPGPEPHQNLFLFSSLPHTHTHTQA	1.0	10.0	unscreened	-	3678_X:104463994-104463994 G>A_TPGPEPHQNLFLFSSLPHTHTHTQA
12:104031812-104031812 G>A	0.0	3678	MELANOMA	0.0027	-	-	-	STAB2	uc001tjw.3,p.R243Q|ENST00000388887,p.R243Q|NM_017564,p.R243Q	retained_intron, protein_coding, nonsense_mediated_decay	uc001tjw.3	nonsynonymous SNV	exon8	c.G728A	p.R243Q	DGKYCDPINPCLRKICHPHAHCTYL	DGKYCDPINPCLQKICHPHAHCTYL	1.0	9.0	unscreened	-	3678_12:104031812-104031812 G>A_DGKYCDPINPCLQKICHPHAHCTYL
3:186370245-186370245 C>T	0.0	3678	MELANOMA	-	-	ID=COSM1730552;OCCURENCE=1(liver)	-	FETUB	uc010hys.3,p.P177L|uc003fqp.4,p.P260L|uc011brz.2,p.P177L|uc003fqn.3,p.P325L|ENST00000265029,p.P325L|NM_014375,p.P325L|ENST00000382136,p.P288L|uc010hyr.3,p.P288L|ENST00000382134,p.P260L|ENST00000539949,p.P177L|uc010hyq.3,p.P325L|ENST00000450521,p.P325L	protein_coding, processed_transcript, nonsense_mediated_decay	uc011brz.2	nonsynonymous SNV	exon5	c.C530T	p.P177L	KNSQEKGPQEAFPVHLDLTTNPQGE	KNSQEKGPQEAFLVHLDLTTNPQGE	1.0	5.0	unscreened	-	3678_3:186370245-186370245 C>T_KNSQEKGPQEAFLVHLDLTTNPQGE
2:228004951-228004951 C>T	0.0	3678	MELANOMA	-	-	-	-	COL4A4	uc021vxs.1,p.G40R|ENST00000396625,p.G40R|NM_000092,p.G40R|uc021vxr.1,p.G40R|ENST00000329662,p.G40R	protein_coding	uc021vxs.1	nonsynonymous SNV	exon4	c.G118A	p.G40R	LILFSVQYVYGSGKKYIGPCGGRDC	LILFSVQYVYGSRKKYIGPCGGRDC	2.0	8.0	unscreened	-	3678_2:228004951-228004951 C>T_LILFSVQYVYGSRKKYIGPCGGRDC
7:142568323-142568323 C>T	0.0	3678	MELANOMA	-	-	-	-	EPHB6	uc003wbt.3,p.P422S|uc003wbu.3,p.P656S|uc011ksu.2,p.P948S|NM_001280795,p.P656S|ENST00000442129,p.P948S|uc003wbs.3,p.P656S|NM_001280794,p.P656S|ENST00000411471,p.P671S|uc003wbv.3,p.P332S|ENST00000392957,p.P948S|uc011kst.2,p.P948S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ksu.2	nonsynonymous SNV	exon19	c.C2842T	p.P948S	SQALLTPVALDFPCLDSPQAWLSAI	SQALLTPVALDFSCLDSPQAWLSAI	2.0	10.0	unscreened	-	3678_7:142568323-142568323 C>T_SQALLTPVALDFSCLDSPQAWLSAI
19:41516028-41516028 C>T	0.0	3678	MELANOMA	-	-	-	-	CYP2B6	NM_000767,p.P318S|uc002opr.1,p.P318S|ENST00000324071,p.P318S	retained_intron, protein_coding, processed_transcript	uc002opr.1	nonsynonymous SNV	exon6	c.C952T	p.P318S	TLRYGFLLMLKYPHVAERVYREIEQ	TLRYGFLLMLKYSHVAERVYREIEQ	1.0	1.0	unscreened	-	3678_19:41516028-41516028 C>T_TLRYGFLLMLKYSHVAERVYREIEQ
14:38310788-38310788 C>A	0.0	3678	MELANOMA	-	-	-	1	FOXA1,SSTR1	uc001wuj.3,p.P543T|uc001wuh.3,p.P446T|ENST00000267368,p.P447T|ENST00000476979,p.P447T|ENST00000553443,p.P1813T	protein_coding, processed_transcript, nonsense_mediated_decay	uc001wuj.3	nonsynonymous SNV	exon13	c.C1627A	p.P543T	AKEDFANVIESCPFWAAVYFNRAHF	AKEDFANVIESCTFWAAVYFNRAHF	1.0	8.0	unscreened	-	3678_14:38310788-38310788 C>A_AKEDFANVIESCTFWAAVYFNRAHF
3:169548418-169548418 G>A	0.0	3678	MELANOMA	-	-	-	-	LRRIQ4	uc003fgb.3,p.A445T|ENST00000340806,p.A445T|NM_001080460,p.A445T	protein_coding	uc003fgb.3	nonsynonymous SNV	exon3	c.G1333A	p.A445T	LKQLPDAICQAQALKELRLEDNLLT	LKQLPDAICQAQTLKELRLEDNLLT	2.0	7.0	unscreened	-	3678_3:169548418-169548418 G>A_LKQLPDAICQAQTLKELRLEDNLLT
7:21788344-21788344 G>A	0.0	3678	MELANOMA	-	-	-	-	DNAH11	NM_001277115,p.G2886E|uc031swp.1,p.G2886E|uc031swq.1,p.G1083E|ENST00000409508,p.G2886E|ENST00000328843,p.G2893E	retained_intron, protein_coding, processed_transcript	uc031swq.1	nonsynonymous SNV	exon52	c.G3248A	p.G1083E	LEVFQITLTEGYGIQELRVDLANLY	LEVFQITLTEGYEIQELRVDLANLY	3.0	1.0	unscreened	-	3678_7:21788344-21788344 G>A_LEVFQITLTEGYEIQELRVDLANLY
6:150710568-150710568 G>T	0.0	3678	MELANOMA	-	-	-	-	IYD	ENST00000229447,p.V87F|NM_001164695,p.V87F|uc003qnu.2,p.V87F|uc003qnx.2,p.V87F|ENST00000344419,p.V87F|ENST00000425615,p.V32F|NM_001164694,p.V87F|uc003qnv.2,p.V87F|ENST00000392256,p.V87F|ENST00000500320,p.V87F|NM_203395,p.V87F|ENST00000392255,p.V87F|ENST00000367335,p.V87F|ENST00000422583,p.V46F	retained_intron, protein_coding, nonsense_mediated_decay	uc003qnx.2	nonsynonymous SNV	exon2	c.G259T	p.V87F	PFSHNHYPEKEMVKRSQEFYELLNK	PFSHNHYPEKEMFKRSQEFYELLNK	1.0	2.0	unscreened	-	3678_6:150710568-150710568 G>T_PFSHNHYPEKEMFKRSQEFYELLNK
X:46466454-46466454 C>T	1.0	3678	MELANOMA	-	-	-	-	SLC9A7	NM_001257291,p.G705E|ENST00000328306,p.G704E|uc004dgu.2,p.G704E|NM_032591,p.G704E	protein_coding, processed_transcript	uc004dgu.2	nonsynonymous SNV	exon17	c.G2111A	p.G704E	KSSSEEVLERDLGMGDQKVSSRGTR	KSSSEEVLERDLEMGDQKVSSRGTR	6.0	9.0	unscreened	-	3678_X:46466454-46466454 C>T_KSSSEEVLERDLEMGDQKVSSRGTR
20:36999956-36999956 G>C	0.0	3678	MELANOMA	-	-	-	-	LBP	ENST00000217407,p.G417A|uc002xic.2,p.G417A|NM_004139,p.G417A	protein_coding	uc002xic.2	nonsynonymous SNV	exon12	c.G1250C	p.G417A	GKVKVELKESKVGLFNAELLEALLN	GKVKVELKESKVALFNAELLEALLN	1.0	4.0	unscreened	-	3678_20:36999956-36999956 G>C_GKVKVELKESKVALFNAELLEALLN
6:159646695-159646695 C>T	0.0	3678	MELANOMA	-	-	-	-	FNDC1	uc010kjv.3,p.S338L|ENST00000297267,p.S338L|ENST00000340366,p.S338L|NM_032532,p.S338L|uc010kjw.1,p.S286L	protein_coding, processed_transcript	uc010kjw.1	nonsynonymous SNV	exon7	c.C857T	p.S286L	IPDTVYEFAVRISQGERDGKWSTSV	IPDTVYEFAVRILQGERDGKWSTSV	3.0	8.0	unscreened	-	3678_6:159646695-159646695 C>T_IPDTVYEFAVRILQGERDGKWSTSV
12:81471955-81471955 G>T	0.0	3678	MELANOMA	-	-	-	-	ACSS3	ENST00000261206,p.G19V|uc001szl.1,p.G19V|uc001szm.1,p.G19V|ENST00000548058,p.G19V|NM_024560,p.G19V	retained_intron, protein_coding, nonsense_mediated_decay	uc001szm.1	nonsynonymous SNV	exon1	c.G56T	p.G19V	QCRKVTSAGGLGGPLPGSSPARGAG	QCRKVTSAGGLGVPLPGSSPARGAG	7.0	10.0	unscreened	-	3678_12:81471955-81471955 G>T_QCRKVTSAGGLGVPLPGSSPARGAG
X:150869306-150869306 G>A	0.0	3678	MELANOMA	-	-	-	-	PRRG3	NM_024082,p.R166K|uc022cgt.1,p.R166K|ENST00000538575,p.R166K|ENST00000370353,p.R166K|uc004few.2,p.R166K	protein_coding	uc022cgt.1	nonsynonymous SNV	exon4	c.G497A	p.R166K	SPQVVLGPSRGGRTTVRLESTLYLP	SPQVVLGPSRGGKTTVRLESTLYLP	1.0	10.0	unscreened	-	3678_X:150869306-150869306 G>A_SPQVVLGPSRGGKTTVRLESTLYLP
1:16358746-16358746 C>T	0.0	3678	MELANOMA	-	-	-	-	CLCNKA	ENST00000375692,p.A602V|NM_001042704,p.A602V|uc001axv.3,p.A602V|ENST00000420078,p.A602V|ENST00000331433,p.A602V|NM_001257139,p.A559V|ENST00000439316,p.A559V|uc010obw.2,p.A559V|NM_004070,p.A602V|uc001axu.3,p.A602V	protein_coding, processed_transcript	uc010obw.2	nonsynonymous SNV	exon16	c.C1676T	p.A559V	LVGIVQRAQLVQALQAEPPSRAPGH	LVGIVQRAQLVQVLQAEPPSRAPGH	1.0	10.0	unscreened	-	3678_1:16358746-16358746 C>T_LVGIVQRAQLVQVLQAEPPSRAPGH
6:56880000-56880000 G>A	0.0	3678	MELANOMA	-	-	-	-	BEND6	NM_152731,p.G123E|uc010kab.3,p.G123E|uc003pdi.4,p.G25E|ENST00000545789,p.G25E|ENST00000370746,p.G123E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010kab.3	nonsynonymous SNV	exon4	c.G368A	p.G123E	LVGMAEALLKGGGTMSTSASTLWRA	LVGMAEALLKGGETMSTSASTLWRA	3.0	2.0	unscreened	-	3678_6:56880000-56880000 G>A_LVGMAEALLKGGETMSTSASTLWRA
X:140995709-140995709 C>T	0.0	3678	MELANOMA	-	-	ID=COSM1466112;OCCURENCE=1(large_intestine)	-	MAGEC1	NM_005462,p.S840L|ENST00000285879,p.S840L|uc004fbt.3,p.S840L|uc022cfi.1,p.S499L	protein_coding	uc022cfi.1	nonsynonymous SNV	exon1	c.C1496T	p.S499L	SSPVSSFPSSTSSSLSKSSPESPLQ	SSPVSSFPSSTSLSLSKSSPESPLQ	1.0	10.0	unscreened	-	3678_X:140995709-140995709 C>T_SSPVSSFPSSTSLSLSKSSPESPLQ
2:1907019-1907019 C>T	0.0	3678	MELANOMA	-	-	-	-	MYT1L	uc002qxe.3,p.R622K|ENST00000399161,p.R622K|NM_015025,p.R620K|ENST00000602387,p.R276K|uc002qxd.3,p.R620K|ENST00000428368,p.R620K	retained_intron, protein_coding, processed_transcript	uc002qxe.3	nonsynonymous SNV	exon14	c.G1865A	p.R622K	FVKQLEIPQYGYRNNVPTTTPRSNL	FVKQLEIPQYGYKNNVPTTTPRSNL	1.0	10.0	unscreened	-	3678_2:1907019-1907019 C>T_FVKQLEIPQYGYKNNVPTTTPRSNL
16:613629-613629 C>T	0.0	3678	MELANOMA	-	-	-	-	PRR35	NM_145270,p.P112L|ENST00000409413,p.P112L|uc002chk.3,p.P112L	protein_coding	uc002chk.3	nonsynonymous SNV	exon2	c.C335T	p.P112L	RQPQGARPTGAAPAPDLVVADIHSL	RQPQGARPTGAALAPDLVVADIHSL	1.0	7.0	unscreened	-	3678_16:613629-613629 C>T_RQPQGARPTGAALAPDLVVADIHSL
2:96690070-96690070 C>T	0.0	3678	MELANOMA	-	-	-	-	GPAT2	uc010yuh.2,p.G491E|uc002svg.3,p.G441E|ENST00000359548,p.G562E|ENST00000377137,p.G562E|uc002sve.3,p.G364E|ENST00000453542,p.G491E|NM_207328,p.G562E|uc002svf.3,p.G562E|ENST00000434632,p.G562E|uc002svh.3,p.G562E|uc002svd.3,p.G381E	retained_intron, protein_coding, processed_transcript	uc010yuh.2	nonsynonymous SNV	exon15	c.G1472A	p.G491E	FLSEAVGACAVRGLLAGRVPPQGPW	FLSEAVGACAVRELLAGRVPPQGPW	2.0	9.0	unscreened	-	3678_2:96690070-96690070 C>T_FLSEAVGACAVRELLAGRVPPQGPW
11:5862497-5862497 C>T	0.0	3678	MELANOMA	-	-	-	-	OR52E6	ENST00000379946,p.D215N|uc010qzq.2,p.D211N|NM_001005167,p.D211N|ENST00000329322,p.D211N	protein_coding	uc010qzq.2	nonsynonymous SNV	exon1	c.G631A	p.D211N	MFGLGSISLLLLDVLLIILSHIRIL	MFGLGSISLLLLNVLLIILSHIRIL	1.0	4.0	unscreened	-	3678_11:5862497-5862497 C>T_MFGLGSISLLLLNVLLIILSHIRIL
12:9020829-9020829 G>A	0.0	3678	MELANOMA	-	-	-	-	A2ML1	uc001qva.1,p.V893M|NM_144670,p.V1313M|NM_001282424,p.V822M|ENST00000539547,p.V822M|uc001quz.5,p.V1313M|ENST00000541459,p.V863M|ENST00000299698,p.V1313M|uc010sgm.3,p.V813M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sgm.3	nonsynonymous SNV	exon20	c.G2437A	p.V813M	EASGQGCVYVQTVLRYNILPPTNMK	EASGQGCVYVQTMLRYNILPPTNMK	1.0	2.0	unscreened	-	3678_12:9020829-9020829 G>A_EASGQGCVYVQTMLRYNILPPTNMK
5:169310634-169310634 C>T	0.0	3678	MELANOMA	-	-	-	-	FAM196B	ENST00000377365,p.G90E|uc003mag.2,p.G90E|NM_001129891,p.G90E	protein_coding, processed_transcript	uc003mag.2	nonsynonymous SNV	exon2	c.G269A	p.G90E	TYSLSFPRSQKAGGFRNIAIQTSPS	TYSLSFPRSQKAEGFRNIAIQTSPS	2.0	2.0	unscreened	-	3678_5:169310634-169310634 C>T_TYSLSFPRSQKAEGFRNIAIQTSPS
2:179603061-179603061 C>T	0.0	3678	MELANOMA	-	-	-	-	TTN	uc021vtb.2,p.E4344K|ENST00000589042,p.E4707K|NM_001267550,p.E4707K|uc021vsz.2,p.E4536K|ENST00000460472,p.E4344K|uc021vta.2,p.E4469K|NM_133432,p.E4469K|uc031rqd.1,p.E4390K|NM_001256850,p.E4390K|ENST00000359218,p.E4469K|NM_003319,p.E4344K|ENST00000591111,p.E4390K|NM_133437,p.E4536K|ENST00000342175,p.E4536K|uc031rqc.1,p.E4707K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon47	c.G13168A	p.E4390K	VKRAAPVIKRKIEPLEVALGHLAKF	VKRAAPVIKRKIKPLEVALGHLAKF	3.0	10.0	unscreened	-	3678_2:179603061-179603061 C>T_VKRAAPVIKRKIKPLEVALGHLAKF
1:15789232-15789232 T>C	0.0	3678	MELANOMA	-	-	-	-	CELA2A	ENST00000359621,p.S78P|uc001awk.3,p.S78P|NM_033440,p.S78P	protein_coding, processed_transcript	uc001awk.3	nonsynonymous SNV	exon4	c.T232C	p.S78P	SWVLTAAHCISSSRTYRVGLGRHNL	SWVLTAAHCISSPRTYRVGLGRHNL	1.0	10.0	unscreened	-	3678_1:15789232-15789232 T>C_SWVLTAAHCISSPRTYRVGLGRHNL
16:29883575-29883575 G>A	0.0	3678	MELANOMA	-	-	-	-	SEZ6L2	uc010ved.2,p.S848L|NM_012410,p.S822L|uc010vec.2,p.S892L|NM_001243332,p.S892L|NM_001114100,p.S778L|NM_001114099,p.S809L|ENST00000537485,p.S848L|NM_201575,p.S879L|ENST00000350527,p.S822L|uc002dus.4,p.S778L|uc002duq.4,p.S879L|ENST00000346932,p.S778L|NM_001243333,p.S848L|uc002dup.4,p.S822L|uc002dur.4,p.S809L|ENST00000308713,p.S879L	retained_intron, protein_coding, processed_transcript	uc010ved.2	nonsynonymous SNV	exon16	c.C2543T	p.S848L	YTKLQGKSLFGFSGSHSYSPITVES	YTKLQGKSLFGFLGSHSYSPITVES	4.0	7.0	unscreened	-	3678_16:29883575-29883575 G>A_YTKLQGKSLFGFLGSHSYSPITVES
2:179603061-179603061 C>T	0.0	3678	MELANOMA	-	-	-	-	TTN	ENST00000342992,p.E3463K|uc021vsy.2,p.E3463K|NM_133378,p.E3463K|uc002umz.1,p.E124K	retained_intron, protein_coding	uc021vsy.2	nonsynonymous SNV	exon46	c.G10387A	p.E3463K	EMKAAPVIKRKIEPLEVALGHLAKF	EMKAAPVIKRKIKPLEVALGHLAKF	3.0	10.0	unscreened	-	3678_2:179603061-179603061 C>T_EMKAAPVIKRKIKPLEVALGHLAKF
6:150710567-150710567 G>A	0.0	3678	MELANOMA	-	-	-	-	IYD	ENST00000422583,p.M45I|ENST00000229447,p.M86I|NM_203395,p.M86I|NM_001164695,p.M86I|ENST00000425615,p.M31I|ENST00000367335,p.M86I|ENST00000392255,p.M86I|ENST00000344419,p.M86I|NM_001164694,p.M86I|ENST00000392256,p.M86I|ENST00000500320,p.M86I	retained_intron, protein_coding, nonsense_mediated_decay	NM_203395	nonsynonymous SNV	exon2	c.G258A	p.M86I	IPFSHNHYPEKEMVKRSQEFYELLN	IPFSHNHYPEKEIVKRSQEFYELLN	1.0	2.0	unscreened	-	3678_6:150710567-150710567 G>A_IPFSHNHYPEKEIVKRSQEFYELLN
3:67054583-67054583 C>T	0.0	3678	MELANOMA	-	-	-	-	KBTBD8	uc003dmy.3,p.R398C|ENST00000295568,p.R372C|ENST00000417314,p.R398C|NM_032505,p.R398C	protein_coding, processed_transcript	uc003dmy.3	nonsynonymous SNV	exon3	c.C1192T	p.R398C	VYCCGKMYAIGGRVYEGDGRNSLKS	VYCCGKMYAIGGCVYEGDGRNSLKS	4.0	6.0	unscreened	-	3678_3:67054583-67054583 C>T_VYCCGKMYAIGGCVYEGDGRNSLKS
1:152188109-152188109 T>A	1.0	3678	MELANOMA	-	rs75280488	-	-	HRNR	ENST00000368801,p.Q1999L|uc001ezt.2,p.Q1999L|NM_001009931,p.Q1999L	protein_coding	uc001ezt.2	nonsynonymous SNV	exon3	c.A5996T	p.Q1999L	SSGLGHRESRSGQSSGYGQHGSSSG	SSGLGHRESRSGLSSGYGQHGSSSG	1.0	1.0	-	-	3678_1:152188109-152188109 T>A_SSGLGHRESRSGLSSGYGQHGSSSG
16:3139648-3139648 T>G	0.0	3678	MELANOMA	-	-	-	-	ZSCAN10	ENST00000538082,p.H459P|uc002ctx.1,p.H469P|uc002ctv.1,p.H541P|uc002ctw.1,p.H459P|uc002cty.1,p.H202P|NM_001282416,p.H459P|NM_032805,p.H541P|ENST00000252463,p.H541P|ENST00000575108,p.H202P|NM_001282415,p.H202P	retained_intron, protein_coding, processed_transcript	uc002cty.1	nonsynonymous SNV	exon5	c.A605C	p.H202P	GKRFVRRASLARHLLTHGGPRPHHC	GKRFVRRASLARPLLTHGGPRPHHC	1.0	8.0	unscreened	-	3678_16:3139648-3139648 T>G_GKRFVRRASLARPLLTHGGPRPHHC
8:124206271-124206271 C>T	0.0	3678	MELANOMA	-	-	-	-	FAM83A	uc003ypy.3,p.S163F|NM_001288587,p.S163F|ENST00000522648,p.S163F|ENST00000546351,p.S163F	retained_intron, protein_coding, processed_transcript	uc003ypy.3	nonsynonymous SNV	exon2	c.C488T	p.S163F	VRRCITRTSQNISIRSVEGEIYCAK	VRRCITRTSQNIFIRSVEGEIYCAK	1.0	4.0	unscreened	-	3678_8:124206271-124206271 C>T_VRRCITRTSQNIFIRSVEGEIYCAK
X:46466455-46466455 C>T	1.0	3678	MELANOMA	-	-	-	-	SLC9A7	NM_032591,p.G704R|uc004dgu.2,p.G704R|NM_001257291,p.G705R|ENST00000328306,p.G704R	protein_coding, processed_transcript	uc004dgu.2	nonsynonymous SNV	exon17	c.G2110A	p.G704R	KSSSEEVLERDLGMGDQKVSSRGTR	KSSSEEVLERDLRMGDQKVSSRGTR	6.0	9.0	unscreened	-	3678_X:46466455-46466455 C>T_KSSSEEVLERDLRMGDQKVSSRGTR
X:31089818-31089818 C>T	0.0	3678	MELANOMA	-	-	-	-	FTHL17	uc004dcl.1,p.D85N|NM_031894,p.D85N|ENST00000359202,p.D85N	protein_coding	uc004dcl.1	nonsynonymous SNV	exon1	c.G253A	p.D85N	LQNLRGGHICLHDIRKPECQGWESG	LQNLRGGHICLHNIRKPECQGWESG	1.0	10.0	unscreened	-	3678_X:31089818-31089818 C>T_LQNLRGGHICLHNIRKPECQGWESG
13:25439108-25439108 C>T	0.0	3678	MELANOMA	-	-	-	-	RNF17	NM_001184993,p.S1354F|NM_031277,p.S1358F|uc010tde.2,p.S1354F|uc001upr.3,p.S1358F|ENST00000255324,p.S1358F|ENST00000418120,p.S682F|uc001ups.3,p.S1297F|uc010aac.3,p.S550F	protein_coding, processed_transcript	uc010tde.2	nonsynonymous SNV	exon29	c.C4061T	p.S1354F	LSYFMAYYKYCTSEHTEEMLKEKPR	LSYFMAYYKYCTFEHTEEMLKEKPR	1.0	6.0	unscreened	-	3678_13:25439108-25439108 C>T_LSYFMAYYKYCTFEHTEEMLKEKPR
19:36214377-36214377 C>T	1.0	3678	MELANOMA	-	-	-	-	KMT2B	ENST00000420124,p.R1011W|NM_014727,p.R1011W|ENST00000222270,p.R1011W|uc021usu.2,p.R1011W|uc021usv.1,p.R1011W	-	uc021usv.1	nonsynonymous SNV	exon7	c.C3031T	p.R1011W	CCVYRKCDKIEARKMERLAKKGRTI	CCVYRKCDKIEAWKMERLAKKGRTI	1.0	5.0	-	-	3678_19:36214377-36214377 C>T_CCVYRKCDKIEAWKMERLAKKGRTI
9:139651602-139651602 C>T	0.0	3678	MELANOMA	-	-	-	-	LCN8	ENST00000371688,p.E15K|uc004cjc.1,p.E15K|NM_178469,p.E15K|uc004cjb.1,p.E15K	protein_coding, processed_transcript	uc004cjc.1	nonsynonymous SNV	exon2	c.G43A	p.E15K	ELDRQKIGGFWREVGVASDQSLVLT	ELDRQKIGGFWRKVGVASDQSLVLT	1.0	9.0	unscreened	-	3678_9:139651602-139651602 C>T_ELDRQKIGGFWRKVGVASDQSLVLT
9:126132741-126132741 C>T	0.0	3678	MELANOMA	-	-	-	-	CRB2	NM_173689,p.P470L|ENST00000373631,p.P470L|ENST00000359999,p.P470L|uc004bnw.1,p.P470L|uc004bnx.1,p.P470L|ENST00000373629,p.P138L|ENST00000460253,p.P138L	protein_coding, nonsense_mediated_decay	uc004bnx.1	nonsynonymous SNV	exon7	c.C1409T	p.P470L	PLGLALRFRTTLPAGTLATRNDTKE	PLGLALRFRTTLLAGTLATRNDTKE	1.0	7.0	unscreened	-	3678_9:126132741-126132741 C>T_PLGLALRFRTTLLAGTLATRNDTKE
4:70146547-70146547 C>T	0.0	3678	MELANOMA	-	-	-	-	UGT2B28	ENST00000335568,p.S110L|NM_001207004,p.S110L|uc010ihr.3,p.S110L|uc003hej.3,p.S110L|NM_053039,p.S110L|ENST00000511240,p.S110L	protein_coding	uc010ihr.3	nonsynonymous SNV	exon1	c.C329T	p.S110L	SDIQKDSFWLYFSQEQEILWEFHDI	SDIQKDSFWLYFLQEQEILWEFHDI	1.0	4.0	unscreened	-	3678_4:70146547-70146547 C>T_SDIQKDSFWLYFLQEQEILWEFHDI
13:28608339-28608339 C>T	0.0	3678	MELANOMA	-	-	-	1	FLT3	NM_004119,p.E573K|uc010tdn.2,p.E573K|ENST00000380987,p.E573K|ENST00000380982,p.E573K|uc001urw.3,p.E573K|ENST00000537084,p.E573K|ENST00000241453,p.E573K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tdn.2	nonsynonymous SNV	exon14	c.G1717A	p.E573K	LICHKYKKQFRYESQLQMVQVTGSS	LICHKYKKQFRYKSQLQMVQVTGSS	3.0	7.0	unscreened	-	3678_13:28608339-28608339 C>T_LICHKYKKQFRYKSQLQMVQVTGSS
7:128490054-128490054 G>A	0.0	3678	MELANOMA	-	-	-	-	FLNC	ENST00000325888,p.E1742K|uc003vnz.4,p.E1742K|NM_001458,p.E1742K	retained_intron, protein_coding	uc003vnz.4	nonsynonymous SNV	exon31	c.G5224A	p.E1742K	FHVLACDPLPHEEEPSEVPQLRQPY	FHVLACDPLPHEKEPSEVPQLRQPY	2.0	1.0	unscreened	-	3678_7:128490054-128490054 G>A_FHVLACDPLPHEKEPSEVPQLRQPY
2:179454249-179454249 C>T	0.0	3678	MELANOMA	-	-	-	-	TTN	NM_001256850,p.E19094K|ENST00000591111,p.E19094K|uc021vta.2,p.E11795K|NM_003319,p.E11670K|uc021vsy.2,p.E18167K|uc021vsz.2,p.E11862K|uc021vtb.2,p.E11670K|ENST00000359218,p.E11795K|ENST00000589042,p.E20735K|ENST00000342175,p.E11862K|uc031rqd.1,p.E19094K|NM_133432,p.E11795K|NM_001267550,p.E20735K|NM_133378,p.E18167K|NM_133437,p.E11862K|ENST00000460472,p.E11670K|ENST00000342992,p.E18167K|uc031rqc.1,p.E20735K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon254	c.G57280A	p.E19094K	IKETHYMVDRCVENQIYEFRVQTKN	IKETHYMVDRCVKNQIYEFRVQTKN	3.0	10.0	unscreened	-	3678_2:179454249-179454249 C>T_IKETHYMVDRCVKNQIYEFRVQTKN
2:179447251-179447251 C>T	0.0	3678	MELANOMA	-	-	-	-	TTN	NM_133437,p.E13105K|NM_003319,p.E12913K|uc031rqd.1,p.E20337K|NM_001267550,p.E21978K|ENST00000589042,p.E21978K|uc031rqc.1,p.E21978K|NM_133378,p.E19410K|NM_133432,p.E13038K|ENST00000460472,p.E12913K|ENST00000359218,p.E13038K|uc021vtb.2,p.E12913K|ENST00000342175,p.E13105K|uc021vta.2,p.E13038K|ENST00000591111,p.E20337K|ENST00000342992,p.E19410K|uc021vsy.2,p.E19410K|uc021vsz.2,p.E13105K|NM_001256850,p.E20337K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon264	c.G61009A	p.E20337K	NKMYSDRAMLSWEPPLEDGGSEITN	NKMYSDRAMLSWKPPLEDGGSEITN	3.0	6.0	unscreened	-	3678_2:179447251-179447251 C>T_NKMYSDRAMLSWKPPLEDGGSEITN
6:56879999-56879999 G>A	0.0	3678	MELANOMA	-	-	-	-	BEND6	ENST00000545789,p.G25R|ENST00000370746,p.G123R|uc003pdi.4,p.G25R|NM_152731,p.G123R|uc010kab.3,p.G123R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010kab.3	nonsynonymous SNV	exon4	c.G367A	p.G123R	LVGMAEALLKGGGTMSTSASTLWRA	LVGMAEALLKGGRTMSTSASTLWRA	3.0	2.0	unscreened	-	3678_6:56879999-56879999 G>A_LVGMAEALLKGGRTMSTSASTLWRA
17:8638542-8638542 C>T	0.0	3678	MELANOMA	-	-	-	-	CCDC42	NM_144681,p.A249T|ENST00000293845,p.A249T|uc002gln.3,p.A249T	protein_coding	uc002gln.3	nonsynonymous SNV	exon6	c.G745A	p.A249T	FWESRWAHIQNTAAKKTLLLGTIKM	FWESRWAHIQNTTAKKTLLLGTIKM	1.0	8.0	unscreened	-	3678_17:8638542-8638542 C>T_FWESRWAHIQNTTAKKTLLLGTIKM
17:8638542-8638542 C>T	0.0	3678	MELANOMA	-	-	-	-	CCDC42	NM_001158261,p.A175T|ENST00000539522,p.A175T|uc002glo.3,p.A175T	protein_coding	uc002glo.3	nonsynonymous SNV	exon5	c.G523A	p.A175T	SEESRWAHIQNTAAKKTLLLGTIKM	SEESRWAHIQNTTAKKTLLLGTIKM	1.0	8.0	unscreened	-	3678_17:8638542-8638542 C>T_SEESRWAHIQNTTAKKTLLLGTIKM
11:94908789-94908789 T>C	1.0	3678	MELANOMA	-	-	-	-	SESN3	ENST00000278499,p.Y283C|NM_001271594,p.Y283C|uc010rug.2,p.Y283C|uc001pfj.4,p.Y422C|NM_144665,p.Y422C|ENST00000536441,p.Y422C	protein_coding, processed_transcript	uc010rug.2	nonsynonymous SNV	exon8	c.A848G	p.Y283C	HCMFGIRYDDYDYGEVNQLLERSLK	HCMFGIRYDDYDCGEVNQLLERSLK	8.0	8.0	-	-	3678_11:94908789-94908789 T>C_HCMFGIRYDDYDCGEVNQLLERSLK
1:1597268-1597268 C>T	1.0	3678	MELANOMA	-	-	-	-	SLC35E2B	uc001ahe.4,p.R173Q	retained_intron, protein_coding	uc001ahe.4	nonsynonymous SNV	exon3	c.G518A	p.R173Q	AEPGCSHWPGPRRHSGAAASTGPQA	AEPGCSHWPGPRQHSGAAASTGPQA	7.0	10.0	unscreened	-	3678_1:1597268-1597268 C>T_AEPGCSHWPGPRQHSGAAASTGPQA
1:151115039-151115039 G>A	0.0	3678	MELANOMA	-	-	-	-	SEMA6C	NM_001178061,p.P20L|uc001eww.3,p.P20L|NM_001178062,p.P20L|uc001ewu.3,p.P20L|ENST00000368913,p.P20L|NM_030913,p.P20L|uc001ewv.3,p.P20L|ENST00000368914,p.P20L|ENST00000368912,p.P20L|ENST00000341697,p.P20L	protein_coding, processed_transcript	uc001eww.3	nonsynonymous SNV	exon3	c.C59T	p.P20L	MPLLLLLLLLSLPHTQAAFPQDPLP	MPLLLLLLLLSLLHTQAAFPQDPLP	3.0	7.0	unscreened	-	3678_1:151115039-151115039 G>A_MPLLLLLLLLSLLHTQAAFPQDPLP
19:11417403-11417403 G>A	0.0	3678	MELANOMA	-	-	ID=COSM1740578;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	TSPAN16	ENST00000589928,p.D2N	protein_coding, nonsense_mediated_decay	ENST00000589928	nonsynonymous SNV	exon1	c.G4A	p.D2N	RDVSPNVIHQKKLR	RNVSPNVIHQKKLR	1.0	2.0	unscreened	-	3678_19:11417403-11417403 G>A_RNVSPNVIHQKKLR
2:168106809-168106809 T>A	0.0	3678	MELANOMA	-	-	-	-	XIRP2	NM_001199144,p.N2747K|ENST00000295237,p.N2969K|uc010fpq.3,p.N2747K|ENST00000409195,p.N2969K|NM_152381,p.N2969K|uc002udx.3,p.N2969K|uc002udy.3,p.N2794K|ENST00000409273,p.N2747K	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.T8241A	p.N2747K	ILSRVKQFEAEPNKSGLKTFQTLLN	ILSRVKQFEAEPKKSGLKTFQTLLN	1.0	9.0	unscreened	-	3678_2:168106809-168106809 T>A_ILSRVKQFEAEPKKSGLKTFQTLLN
20:44238733-44238733 G>A	0.0	3678	MELANOMA	-	-	-	-	WFDC9	uc002xoy.3,p.P30S|NM_147198,p.P30S|ENST00000326000,p.P30S	protein_coding	uc002xoy.3	nonsynonymous SNV	exon3	c.C88T	p.P30S	LLPVLGSFWNKDPFLDMIRETEQCW	LLPVLGSFWNKDSFLDMIRETEQCW	1.0	1.0	unscreened	-	3678_20:44238733-44238733 G>A_LLPVLGSFWNKDSFLDMIRETEQCW
6:129636985-129636985 C>T	0.0	3678	MELANOMA	-	-	-	-	LAMA2	uc003qbn.3,p.P1272S|NM_001079823,p.P1272S|uc021zfb.1,p.P1272S|uc003qbo.3,p.P1272S|ENST00000421865,p.P1272S|NM_000426,p.P1272S	protein_coding, processed_transcript	uc021zfb.1	nonsynonymous SNV	exon26	c.C3814T	p.P1272S	EAREETGFSTYNPQVIIRGGTPTHA	EAREETGFSTYNSQVIIRGGTPTHA	1.0	1.0	unscreened	-	3678_6:129636985-129636985 C>T_EAREETGFSTYNSQVIIRGGTPTHA
19:11417403-11417403 G>A	0.0	3678	MELANOMA	-	-	ID=COSM1740578;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	TSPAN16	NM_001282510,p.D167N|NM_001282509,p.D192N|ENST00000590327,p.D192N|NM_012466,p.D192N|ENST00000316737,p.D192N|uc002mqv.1,p.D192N|ENST00000592955,p.D167N	protein_coding, nonsense_mediated_decay	uc002mqv.1	nonsynonymous SNV	exon5	c.G574A	p.D192N	CKSIGSVSCDGRDVSPNVIHQKGCF	CKSIGSVSCDGRNVSPNVIHQKGCF	1.0	2.0	unscreened	-	3678_19:11417403-11417403 G>A_CKSIGSVSCDGRNVSPNVIHQKGCF
1:1597268-1597268 C>T	1.0	3678	MELANOMA	-	-	-	-	SLC35E2B	uc001ahh.4,p.D391N|ENST00000234800,p.D391N|ENST00000378662,p.D391N|uc001ahg.4,p.D391N|NM_001110781,p.D391N|NM_001290264,p.D391N|uc001ahf.4,p.D391N	retained_intron, protein_coding	uc001ahh.4	nonsynonymous SNV	exon9	c.G1171A	p.D391N	QSLAAATGRAPDDTVEPLLPQDPRQ	QSLAAATGRAPDNTVEPLLPQDPRQ	7.0	10.0	-	-	3678_1:1597268-1597268 C>T_QSLAAATGRAPDNTVEPLLPQDPRQ
17:18061104-18061104 G>T	0.0	3678	MELANOMA	-	-	-	-	MYO15A	uc010vxi.2,p.A217S|ENST00000418233,p.A217S|uc021trm.1,p.A2953S|ENST00000205890,p.A2953S|NM_016239,p.A2953S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021trm.1	nonsynonymous SNV	exon50	c.G8857T	p.A2953S	GRFPSELVQPAAAPDFLQLPTEPGR	GRFPSELVQPAASPDFLQLPTEPGR	5.0	7.0	unscreened	-	3678_17:18061104-18061104 G>T_GRFPSELVQPAASPDFLQLPTEPGR
X:65393490-65393490 G>A	0.0	3678	MELANOMA	-	-	-	-	HEPH	ENST00000519389,p.G212R|uc011moz.2,p.G212R|NM_001282141,p.G161R|NM_138737,p.G212R|uc004dwn.3,p.G161R|ENST00000441993,p.G161R|NM_001130860,p.G161R|uc011mpa.2,p.G161R|ENST00000425114,p.G158R|ENST00000419594,p.G161R|uc010nkr.3,p.G161R|ENST00000458621,p.G158R|ENST00000343002,p.G158R|ENST00000374727,p.G161R	retained_intron, protein_coding, nonsense_mediated_decay	uc011mpa.2	nonsynonymous SNV	exon3	c.G481A	p.G161R	SGPLKADDSVPPGGSHIYNWTIPEG	SGPLKADDSVPPRGSHIYNWTIPEG	4.0	10.0	unscreened	-	3678_X:65393490-65393490 G>A_SGPLKADDSVPPRGSHIYNWTIPEG
9:1056832-1056832 T>G	1.0	3678	MELANOMA	-	-	-	-	DMRT2	NM_181872,p.S415R|uc003zha.3,p.S415R|ENST00000302441,p.S415R|ENST00000358146,p.S415R|uc011llv.2,p.S415R|uc003zgy.4,p.S259R|ENST00000382251,p.S415R	protein_coding	uc011llv.2	nonsynonymous SNV	exon3	c.T1245G	p.S415R	VLPHTPEIQTTRSDLQGHQAVPERS	VLPHTPEIQTTRRDLQGHQAVPERS	4.0	9.0	-	-	3678_9:1056832-1056832 T>G_VLPHTPEIQTTRRDLQGHQAVPERS
8:131921963-131921963 C>T	0.0	3678	MELANOMA	-	-	-	-	ADCY8	ENST00000522949,p.G159E|ENST00000377928,p.G544E|ENST00000286355,p.G544E|uc003ytd.4,p.G544E|uc010mds.3,p.G544E|NM_001115,p.G544E	protein_coding	uc010mds.3	nonsynonymous SNV	exon6	c.G1631A	p.G544E	WDVDIANKLESGGIPGRIHISKATL	WDVDIANKLESGEIPGRIHISKATL	1.0	7.0	unscreened	-	3678_8:131921963-131921963 C>T_WDVDIANKLESGEIPGRIHISKATL
1:197009661-197009661 G>A	0.0	3678	MELANOMA	-	-	-	-	F13B	NM_001994,p.P648L|ENST00000367412,p.P648L|uc001gtt.1,p.P648L	protein_coding, processed_transcript	uc001gtt.1	nonsynonymous SNV	exon11	c.C1943T	p.P648L	CDRGQLKYPRCIPRQSTLSYQEPLR	CDRGQLKYPRCILRQSTLSYQEPLR	1.0	3.0	unscreened	-	3678_1:197009661-197009661 G>A_CDRGQLKYPRCILRQSTLSYQEPLR
8:27903111-27903111 T>C	0.0	3678	MELANOMA	-	-	-	-	NUGGC	ENST00000341513,p.K460R|NM_001010906,p.K460R|ENST00000413272,p.K460R|uc003xgm.4,p.K460R	protein_coding	uc003xgm.4	nonsynonymous SNV	exon12	c.A1379G	p.K460R	KSLLDKKKRTVTKYVTEAFGLLLLT	KSLLDKKKRTVTRYVTEAFGLLLLT	3.0	2.0	unscreened	-	3678_8:27903111-27903111 T>C_KSLLDKKKRTVTRYVTEAFGLLLLT
17:77769215-77769215 G>A	0.0	3678	MELANOMA	-	-	-	-	CBX8	ENST00000427800,p.S105F|ENST00000269385,p.S130F|uc002jxd.2,p.S130F|NM_020649,p.S130F|ENST00000413392,p.S120F	protein_coding, processed_transcript	uc002jxd.2	nonsynonymous SNV	exon5	c.C389T	p.S130F	SRAREGLRNMGLSPPASSTSTSSTC	SRAREGLRNMGLFPPASSTSTSSTC	5.0	2.0	unscreened	-	3678_17:77769215-77769215 G>A_SRAREGLRNMGLFPPASSTSTSSTC
9:79933292-79933292 C>T	1.0	3678	MELANOMA	-	-	-	-	VPS13A	uc004akt.3,p.L40F|uc004aks.3,p.L1661F|ENST00000376636,p.L1661F|NM_033305,p.L1700F|ENST00000360280,p.L1700F|ENST00000357409,p.L1700F|uc010mpo.1,p.L296F|NM_001018038,p.L1700F|NM_001018037,p.L1661F|ENST00000376634,p.L1700F|NM_015186,p.L1700F|uc004akr.3,p.L1700F|uc004akq.4,p.L1700F|uc004akp.4,p.L1700F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010mpo.1	nonsynonymous SNV	exon11	c.C886T	p.L296F	EKKDTKTLKMWFLEESNETEKIAPT	EKKDTKTLKMWFFEESNETEKIAPT	7.0	9.0	-	-	3678_9:79933292-79933292 C>T_EKKDTKTLKMWFFEESNETEKIAPT
15:43584949-43584949 G>A	0.0	3678	MELANOMA	-	-	-	-	TGM7	NM_052955,p.P133S|ENST00000452443,p.P133S|uc001zrf.1,p.P133S	retained_intron, protein_coding	uc001zrf.1	nonsynonymous SNV	exon3	c.C397T	p.P133S	EISQGQGHSVTYPLGTFILLFNPWS	EISQGQGHSVTYSLGTFILLFNPWS	1.0	7.0	unscreened	-	3678_15:43584949-43584949 G>A_EISQGQGHSVTYSLGTFILLFNPWS
8:68956816-68956816 G>T	0.0	3678	MELANOMA	-	-	-	1	PREX2	uc011lez.1,p.D247Y|ENST00000288368,p.D312Y|uc003xxu.1,p.D312Y|NM_025170,p.D312Y|uc003xxv.1,p.D312Y|NM_024870,p.D312Y	protein_coding, processed_transcript	uc011lez.1	nonsynonymous SNV	exon6	c.G739T	p.D247Y	INTEVMEVENVDDGTADFHSSGHIV	INTEVMEVENVDYGTADFHSSGHIV	4.0	3.0	unscreened	-	3678_8:68956816-68956816 G>T_INTEVMEVENVDYGTADFHSSGHIV
12:49391439-49391439 G>A	0.0	3678	MELANOMA	-	-	-	-	DDN	ENST00000421952,p.P407L|uc001rsv.1,p.P407L|NM_015086,p.P407L	protein_coding	uc001rsv.1	nonsynonymous SNV	exon2	c.C1220T	p.P407L	PRHSQTLPRPWAPGGTGWRESLGLG	PRHSQTLPRPWALGGTGWRESLGLG	1.0	5.0	unscreened	-	3678_12:49391439-49391439 G>A_PRHSQTLPRPWALGGTGWRESLGLG
5:19838885-19838885 G>A	0.0	3678	MELANOMA	-	-	-	-	CDH18	ENST00000274170,p.P71S|uc021xwu.1,p.P71S|uc011cnm.2,p.P71S|NM_001291957,p.P71S|NM_001167667,p.P71S|uc003jgc.3,p.P71S|uc003jgd.3,p.P71S|ENST00000511273,p.P71S|ENST00000515257,p.P17S|ENST00000507958,p.P71S|ENST00000506372,p.P71S|NM_004934,p.P71S|NM_001291956,p.P71S|ENST00000382275,p.P71S|ENST00000502796,p.P71S	protein_coding, processed_transcript	uc021xwu.1	nonsynonymous SNV	exon3	c.C211T	p.P71S	QFFVLEEHMGPDPQYVGKLHSNSDK	QFFVLEEHMGPDSQYVGKLHSNSDK	2.0	1.0	unscreened	-	3678_5:19838885-19838885 G>A_QFFVLEEHMGPDSQYVGKLHSNSDK
21:28337977-28337977 G>A	0.0	3678	MELANOMA	-	-	-	-	ADAMTS5	ENST00000284987,p.S245L|uc002ymg.3,p.S245L|NM_007038,p.S245L	protein_coding	uc002ymg.3	nonsynonymous SNV	exon1	c.C734T	p.S245L	ALASQLLDQSALSPAGGSGPQTWWR	ALASQLLDQSALLPAGGSGPQTWWR	3.0	3.0	unscreened	-	3678_21:28337977-28337977 G>A_ALASQLLDQSALLPAGGSGPQTWWR
1:237754111-237754111 C>T	0.0	3678	MELANOMA	-	-	-	-	RYR2	ENST00000542537,p.L1311F|uc001hyl.1,p.L1327F|ENST00000360064,p.L1325F|NM_001035,p.L1327F|ENST00000366574,p.L1327F	protein_coding, processed_transcript	uc001hyl.1	nonsynonymous SNV	exon31	c.C3979T	p.L1327F	SKTVAGGLPGAGLFGPKNDLEDYDA	SKTVAGGLPGAGFFGPKNDLEDYDA	6.0	5.0	unscreened	-	3678_1:237754111-237754111 C>T_SKTVAGGLPGAGFFGPKNDLEDYDA
5:140257341-140257341 G>A	0.0	3678	MELANOMA	-	-	-	-	PCDHA12	ENST00000398631,p.E762K|NM_018903,p.E762K|uc011daf.2,p.E762K|NM_031864,p.E762K|uc003lic.2,p.E762K	protein_coding	uc011daf.2	nonsynonymous SNV	exon1	c.G2284A	p.E762K	YSQQRRQRVCSAESPPKTDLMAFSP	YSQQRRQRVCSAKSPPKTDLMAFSP	1.0	7.0	unscreened	-	3678_5:140257341-140257341 G>A_YSQQRRQRVCSAKSPPKTDLMAFSP
2:237075019-237075019 C>T	0.0	3678	MELANOMA	-	-	-	-	GBX2	NM_001301687,p.G208R|uc010zng.1,p.G198R|ENST00000551105,p.G208R	protein_coding, processed_transcript	uc010zng.1	nonsynonymous SNV	exon3	c.G592A	p.G198R	RRVKGGRRPEGQGGELLAGERCGLQ	RRVKGGRRPEGQRGELLAGERCGLQ	1.0	10.0	unscreened	-	3678_2:237075019-237075019 C>T_RRVKGGRRPEGQRGELLAGERCGLQ
10:73437319-73437319 G>A	0.0	3678	MELANOMA	-	-	-	-	CDH23	NM_001171930,p.E541K|NM_001171931,p.E541K|ENST00000224721,p.E546K|NM_022124,p.E541K|ENST00000299366,p.E586K	protein_coding, processed_transcript	NM_022124	nonsynonymous SNV	exon15	c.G1621A	p.E541K	FTLTIIARDGGGEETTGRVRINVLD	FTLTIIARDGGGKETTGRVRINVLD	2.0	9.0	unscreened	-	3678_10:73437319-73437319 G>A_FTLTIIARDGGGKETTGRVRINVLD
6:150710568-150710568 G>T	0.0	3678	MELANOMA	-	-	-	-	IYD	uc010kik.2,p.W27C	retained_intron, protein_coding, nonsense_mediated_decay	uc010kik.2	nonsynonymous SNV	exon2	c.G81T	p.W27C	SPSLITTILRRKWLRGLRNFMNFSI	SPSLITTILRRKCLRGLRNFMNFSI	1.0	2.0	unscreened	-	3678_6:150710568-150710568 G>T_SPSLITTILRRKCLRGLRNFMNFSI
17:18061104-18061104 G>T	0.0	3678	MELANOMA	-	-	-	-	MYO15A	uc021trl.1,p.A2951S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021trl.1	nonsynonymous SNV	exon50	c.G8851T	p.A2951S	RVGRFPSELVQPAAAPDFLQLPTEP	RVGRFPSELVQPSAAPDFLQLPTEP	5.0	7.0	unscreened	-	3678_17:18061104-18061104 G>T_RVGRFPSELVQPSAAPDFLQLPTEP
2:189859489-189859489 G>A	0.0	3678	MELANOMA	-	-	ID=COSM1691705;OCCURENCE=1(skin)	2	COL3A1	ENST00000304636,p.E463K|NM_000090,p.E463K|ENST00000317840,p.E463K|uc002uqj.1,p.E463K	retained_intron, protein_coding	uc002uqj.1	nonsynonymous SNV	exon20	c.G1387A	p.E463K	EAGIPGVPGAKGEDGKDGSPGEPGA	EAGIPGVPGAKGKDGKDGSPGEPGA	9.0	10.0	unscreened	-	3678_2:189859489-189859489 G>A_EAGIPGVPGAKGKDGKDGSPGEPGA
19:6848022-6848022 A>G	0.0	3678	MELANOMA	-	-	-	2	VAV1	ENST00000539284,p.M579V|ENST00000596764,p.M644V|NM_001258207,p.M644V|NM_001258206,p.M654V|ENST00000599806,p.M621V|uc002mfu.2,p.M676V|uc010dva.2,p.M654V|NM_005428,p.M676V|uc010xjh.2,p.M644V|ENST00000304076,p.M654V|ENST00000602142,p.M676V|uc002mfv.2,p.M621V	retained_intron, protein_coding	uc010xjh.2	nonsynonymous SNV	exon22	c.A1930G	p.M644V	QDLSVHLWYAGPMERAGAESILANR	QDLSVHLWYAGPVERAGAESILANR	5.0	3.0	unscreened	-	3678_19:6848022-6848022 A>G_QDLSVHLWYAGPVERAGAESILANR
4:20598174-20598174 G>A	0.0	3678	MELANOMA	-	-	-	-	SLIT2	uc003gpr.1,p.G1153R|ENST00000503837,p.G1149R|ENST00000273739,p.G1166R|NM_004787,p.G1153R|NM_001289136,p.G1145R|ENST00000503823,p.G1145R|NM_001289135,p.G1149R|uc003gps.1,p.G1145R|ENST00000504154,p.G1153R	retained_intron, protein_coding, processed_transcript	uc003gps.1	nonsynonymous SNV	exon31	c.G3433A	p.G1145R	NEPICQCLPGYQGEKCEKLVSVNFI	NEPICQCLPGYQREKCEKLVSVNFI	4.0	2.0	unscreened	-	3678_4:20598174-20598174 G>A_NEPICQCLPGYQREKCEKLVSVNFI
5:177421325-177421325 G>A	0.0	3678	MELANOMA	-	-	-	-	PROP1	NM_006261,p.P42S|ENST00000308304,p.P42S|uc003mif.1,p.P42S	protein_coding	uc003mif.1	nonsynonymous SNV	exon2	c.C124T	p.P42S	GTPTTTVDSSAPPCRRLPGAGGGRS	GTPTTTVDSSAPSCRRLPGAGGGRS	1.0	10.0	unscreened	-	3678_5:177421325-177421325 G>A_GTPTTTVDSSAPSCRRLPGAGGGRS
X:36368242-36368242 C>T	0.0	3678	MELANOMA	-	-	-	-	CXorf30	NM_001098843,p.P344L|ENST00000378657,p.P344L|ENST00000378653,p.P629L|uc011mkc.3,p.P344L	protein_coding	uc011mkc.3	nonsynonymous SNV	exon14	c.C1031T	p.P344L	IVGLPQAPPPKSPPVVIQCQSRKRA	IVGLPQAPPPKSLPVVIQCQSRKRA	1.0	2.0	unscreened	-	3678_X:36368242-36368242 C>T_IVGLPQAPPPKSLPVVIQCQSRKRA
15:89400147-89400147 G>A	0.0	3678	MELANOMA	-	-	-	-	ACAN	NM_001135,p.G1444E|uc010upo.1,p.G1444E|ENST00000559004,p.G1444E|uc010upp.1,p.G1444E|ENST00000352105,p.G1444E|NM_013227,p.G1444E|ENST00000561243,p.G1444E|ENST00000439576,p.G1444E	retained_intron, protein_coding	uc010upp.1	nonsynonymous SNV	exon12	c.G4331A	p.G1444E	LPSGEVLETTAPGVEEISGLPSGEV	LPSGEVLETTAPEVEEISGLPSGEV	2.0	3.0	unscreened	-	3678_15:89400147-89400147 G>A_LPSGEVLETTAPEVEEISGLPSGEV
11:618922-618922 C>T	0.0	3678	MELANOMA	-	-	-	-	CDHR5	NM_021924,p.G546E|ENST00000397542,p.G546E|uc001lqj.3,p.G546E|ENST00000358353,p.G546E|uc009ycd.3,p.G540E|uc001lql.3,p.G546E|NM_001171968,p.G540E|uc009ycc.3,p.G380E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009ycd.3	nonsynonymous SNV	exon13	c.G1619A	p.G540E	TPGGDTAQTPKPGTSQPMPPGVGTS	TPGGDTAQTPKPETSQPMPPGVGTS	1.0	10.0	unscreened	-	3678_11:618922-618922 C>T_TPGGDTAQTPKPETSQPMPPGVGTS
7:50136165-50136165 G>A	0.0	3678	MELANOMA	-	-	-	-	C7orf72	NM_001161834,p.E162K|ENST00000297001,p.E162K|uc011kcj.2,p.E162K	protein_coding	uc011kcj.2	nonsynonymous SNV	exon1	c.G484A	p.E162K	QTTIKRQKILSEELQQNRRWNSREV	QTTIKRQKILSEKLQQNRRWNSREV	1.0	2.0	unscreened	-	3678_7:50136165-50136165 G>A_QTTIKRQKILSEKLQQNRRWNSREV
12:54686366-54686366 C>T	0.0	3678	MELANOMA	-	-	-	-	NFE2	uc009znl.4,p.R305Q|ENST00000553070,p.R305Q|ENST00000540264,p.R305Q|NM_006163,p.R305Q|NM_001261461,p.R305Q|NM_001136023,p.R305Q|uc009znk.4,p.R305Q|uc001sfq.4,p.R305Q|ENST00000435572,p.R305Q|ENST00000312156,p.R305Q|uc001sfr.5,p.R305Q|ENST00000553198,p.R305Q	protein_coding	uc009znl.4	nonsynonymous SNV	exon4	c.G914A	p.R305Q	QLERELERLTNERERLLRARGEADR	QLERELERLTNEQERLLRARGEADR	1.0	9.0	unscreened	-	3678_12:54686366-54686366 C>T_QLERELERLTNEQERLLRARGEADR
20:58330375-58330375 C>T	0.0	3678	MELANOMA	-	-	-	-	PHACTR3	ENST00000355648,p.S125F|NM_001281507,p.S125F|ENST00000395636,p.S125F|NM_080672,p.S166F|ENST00000371015,p.S166F|uc002yat.3,p.S163F|uc002yax.3,p.S125F|NM_001199506,p.S125F|ENST00000395639,p.S125F|ENST00000359926,p.S163F|uc002yau.3,p.S166F|ENST00000541461,p.S125F|uc010zzw.2,p.S125F|NM_001199505,p.S163F|NM_183244,p.S125F|uc002yaw.3,p.S125F|NM_183246,p.S125F|ENST00000361300,p.S125F|uc002yav.3,p.S125F	retained_intron, protein_coding	uc010zzw.2	nonsynonymous SNV	exon4	c.C374T	p.S125F	PGSPLATGTDQVSLDKPLSSAAHLD	PGSPLATGTDQVFLDKPLSSAAHLD	2.0	6.0	unscreened	-	3678_20:58330375-58330375 C>T_PGSPLATGTDQVFLDKPLSSAAHLD
3:186978547-186978547 C>T	0.0	3678	MELANOMA	-	-	-	-	MASP1	uc003frj.3,p.D146N|ENST00000392475,p.D184N|ENST00000392472,p.D64N|ENST00000392470,p.D151N|uc003frh.2,p.D177N|uc003frk.2,p.D177N|uc003fri.3,p.D177N|NM_001879,p.D177N|ENST00000337774,p.D177N|ENST00000169293,p.D177N|uc011bse.2,p.D151N|NM_001031849,p.D177N|ENST00000296280,p.D177N|NM_139125,p.D177N	retained_intron, protein_coding, processed_transcript	uc011bse.2	nonsynonymous SNV	exon5	c.G451A	p.D151N	YCSCRFGYILHTDNRTCRVECSDNL	YCSCRFGYILHTNNRTCRVECSDNL	1.0	2.0	unscreened	-	3678_3:186978547-186978547 C>T_YCSCRFGYILHTNNRTCRVECSDNL
11:1093204-1093204 C>A	0.0	3678	MELANOMA	-	-	-	-	MUC2	ENST00000441003,p.P1675T|ENST00000359061,p.P1642T	protein_coding	ENST00000441003	nonsynonymous SNV	exon30	c.C5023A	p.P1675T	PTPTPTGTQSPTPTAITTTTTVTPT	PTPTPTGTQSPTTTAITTTTTVTPT	1.0	1.0	unscreened	-	3678_11:1093204-1093204 C>A_PTPTPTGTQSPTTTAITTTTTVTPT
19:7565888-7565888 G>C	0.0	3678	MELANOMA	-	-	-	-	C19orf45	ENST00000597207,p.Q60H|ENST00000601176,p.Q60H|ENST00000596132,p.Q60H|NM_198534,p.Q60H|uc002mgm.2,p.Q60H|ENST00000361664,p.Q60H	retained_intron, protein_coding, nonsense_mediated_decay	uc002mgm.2	nonsynonymous SNV	exon2	c.G180C	p.Q60H	AYPAATREPPSLQPPPALLFPMDPR	AYPAATREPPSLHPPPALLFPMDPR	2.0	7.0	unscreened	-	3678_19:7565888-7565888 G>C_AYPAATREPPSLHPPPALLFPMDPR
8:24300024-24300024 C>T	0.0	3678	MELANOMA	-	-	ID=COSM106832;OCCURENCE=2(skin),1(large_intestine)	-	ADAM7	ENST00000441335,p.R31C|ENST00000175238,p.R31C|uc003xea.1,p.R31C|uc003xeb.3,p.R31C|NM_003817,p.R31C|ENST00000380789,p.R31C	protein_coding	uc003xeb.3	nonsynonymous SNV	exon2	c.C91T	p.R31C	KFILGVEGQQLVRPKKLPLIQKRDT	KFILGVEGQQLVCPKKLPLIQKRDT	1.0	4.0	unscreened	-	3678_8:24300024-24300024 C>T_KFILGVEGQQLVCPKKLPLIQKRDT
15:40675131-40675131 G>A	0.0	3678	MELANOMA	-	-	-	2	KNSTRN	ENST00000416151,p.R32Q|uc001zll.3,p.R32Q|ENST00000560981,p.R32Q|NM_001142761,p.R32Q|uc001zlo.3,p.R32Q|ENST00000448395,p.R32Q|uc010ucp.2,p.R32Q|ENST00000249776,p.R32Q|NM_001142762,p.R32Q|NM_033286,p.R32Q	retained_intron, protein_coding, nonsense_mediated_decay	uc010ucp.2	nonsynonymous SNV	exon1	c.G95A	p.R32Q	TECDSHPLPPSYRKFLFETQAADLA	TECDSHPLPPSYQKFLFETQAADLA	7.0	2.0	unscreened	-	3678_15:40675131-40675131 G>A_TECDSHPLPPSYQKFLFETQAADLA
6:40360175-40360175 G>A	0.0	3678	MELANOMA	-	-	-	-	LRFN2	uc003oph.1,p.S626F|NM_020737,p.S626F|ENST00000338305,p.S626F	protein_coding	uc003oph.1	nonsynonymous SNV	exon3	c.C1877T	p.S626F	SLARASDSSSSSSLGSGEAAGLGRA	SLARASDSSSSSFLGSGEAAGLGRA	1.0	8.0	unscreened	-	3678_6:40360175-40360175 G>A_SLARASDSSSSSFLGSGEAAGLGRA
3:38739366-38739366 C>T	0.0	3678	MELANOMA	-	-	-	-	SCN10A	ENST00000449082,p.R1782Q|NM_001293306,p.R1781Q|NM_001293307,p.R1684Q|NM_006514,p.R1782Q|uc003ciq.3,p.R1782Q	protein_coding	uc003ciq.3	nonsynonymous SNV	exon27	c.G5345A	p.R1782Q	TLSGPLRIPKPNRNILIQMDLPLVP	TLSGPLRIPKPNQNILIQMDLPLVP	1.0	6.0	unscreened	-	3678_3:38739366-38739366 C>T_TLSGPLRIPKPNQNILIQMDLPLVP
1:223567233-223567233 C>T	0.0	3678	MELANOMA	-	-	-	-	CCDC185	uc001hoa.2,p.P139L|NM_152610,p.P139L|ENST00000366875,p.P139L	protein_coding	uc001hoa.2	nonsynonymous SNV	exon1	c.C416T	p.P139L	LPPQRPQPCPHYPLAQGDSPPPCPG	LPPQRPQPCPHYLLAQGDSPPPCPG	1.0	5.0	unscreened	-	3678_1:223567233-223567233 C>T_LPPQRPQPCPHYLLAQGDSPPPCPG
5:135601998-135601998 C>T	0.0	3678	MELANOMA	-	-	-	-	TRPC7	uc010jeh.2,p.E358K|ENST00000426057,p.E303K|uc003lbn.2,p.E419K|NM_020389,p.E419K|uc010jef.2,p.E355K|ENST00000513104,p.E419K|uc010jei.2,p.E303K|NM_001167577,p.E358K|ENST00000355180,p.E358K|NM_001167576,p.E303K	retained_intron, protein_coding, nonsense_mediated_decay	uc010jei.2	nonsynonymous SNV	exon3	c.G907A	p.E303K	SDRFEGVKTLPNETFTDYPKQIFRV	SDRFEGVKTLPNKTFTDYPKQIFRV	1.0	8.0	unscreened	-	3678_5:135601998-135601998 C>T_SDRFEGVKTLPNKTFTDYPKQIFRV
8:143614743-143614743 C>T	0.0	3678	MELANOMA	-	-	ID=COSM1569164;OCCURENCE=1(large_intestine)	-	BAI1	ENST00000521208,p.R1134C	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000521208	nonsynonymous SNV	exon24	c.C3400T	p.R1134C	DVGCARRHRPPLRPLPDPLRCLRLA	DVGCARRHRPPLCPLPDPLRCLRLA	3.0	9.0	unscreened	-	3678_8:143614743-143614743 C>T_DVGCARRHRPPLCPLPDPLRCLRLA
11:31815068-31815068 C>T	0.0	3678	MELANOMA	-	-	-	-	PAX6	uc031pzk.1,p.R181Q|NM_000280,p.R317Q|NM_001258465,p.R317Q|uc001mth.5,p.R317Q|ENST00000241001,p.R317Q|uc001mtf.5,p.R317Q|ENST00000379115,p.R331Q|uc031pzl.1,p.R181Q|NM_001604,p.R331Q|ENST00000419022,p.R331Q|ENST00000379123,p.R317Q|uc009yjr.3,p.R317Q|uc001mtd.4,p.R317Q|uc021qfm.1,p.R331Q|ENST00000379129,p.R331Q|NM_001127612,p.R317Q|ENST00000379109,p.R317Q|NM_001258462,p.R331Q|uc021qfl.1,p.R331Q|ENST00000379107,p.R331Q|ENST00000379132,p.R317Q|uc001mtg.5,p.R331Q|NM_001258463,p.R331Q|uc021qfn.1,p.R317Q|ENST00000379111,p.R317Q|uc001mte.5,p.R317Q|NM_001258464,p.R317Q	retained_intron, protein_coding, processed_transcript	uc031pzl.1	nonsynonymous SNV	exon8	c.G542A	p.R181Q	PVSSFTSGSMLGRTDTALTNTYSAL	PVSSFTSGSMLGQTDTALTNTYSAL	1.0	8.0	unscreened	-	3678_11:31815068-31815068 C>T_PVSSFTSGSMLGQTDTALTNTYSAL
1:24488016-24488016 G>A	0.0	3678	MELANOMA	-	-	-	-	IFNLR1	uc001biv.3,p.P176S|ENST00000374418,p.P176S	protein_coding	uc001biv.3	nonsynonymous SNV	exon4	c.C526T	p.P176S	KEGAGNKVGSSFPAPRLGPLLHPFL	KEGAGNKVGSSFSAPRLGPLLHPFL	2.0	8.0	unscreened	-	3678_1:24488016-24488016 G>A_KEGAGNKVGSSFSAPRLGPLLHPFL
19:408117-408117 G>A	0.0	3678	MELANOMA	-	-	-	-	C2CD4C	uc002loo.3,p.A82V|NM_001136263,p.A82V|uc021ulv.1,p.A82V|ENST00000332235,p.A82V	protein_coding	uc021ulv.1	nonsynonymous SNV	exon1	c.C245T	p.A82V	GPSTSEQNLASAAPRQTPRSPRLPA	GPSTSEQNLASAVPRQTPRSPRLPA	2.0	8.0	unscreened	-	3678_19:408117-408117 G>A_GPSTSEQNLASAVPRQTPRSPRLPA
14:94772488-94772488 C>T	0.0	3678	MELANOMA	-	-	-	-	SERPINA6	NM_001756,p.E318K|ENST00000341584,p.E318K|uc001ycv.3,p.E318K	protein_coding, nonsense_mediated_decay	uc001ycv.3	nonsynonymous SNV	exon4	c.G952A	p.E318K	ISGVYDLGDVLEEMGIADLFTNQAN	ISGVYDLGDVLEKMGIADLFTNQAN	1.0	5.0	unscreened	-	3678_14:94772488-94772488 C>T_ISGVYDLGDVLEKMGIADLFTNQAN
1:203465300-203465300 A>G	0.0	3678	MELANOMA	-	-	-	-	OPTC	uc001gzu.1,p.Y56C|NM_014359,p.Y56C|ENST00000448911,p.Y56C|ENST00000367222,p.Y56C	protein_coding	uc001gzu.1	nonsynonymous SNV	exon2	c.A167G	p.Y56C	LPLRNDVLNPDNYGEVIDLSNYEEL	LPLRNDVLNPDNCGEVIDLSNYEEL	1.0	6.0	unscreened	-	3678_1:203465300-203465300 A>G_LPLRNDVLNPDNCGEVIDLSNYEEL
1:190067681-190067681 C>T	0.0	3678	MELANOMA	-	-	ID=COSM1689440;OCCURENCE=1(skin)	-	BRINP3	uc010pot.1,p.E488K|ENST00000534846,p.E488K|ENST00000367462,p.E590K|uc001gse.1,p.E590K|NM_199051,p.E590K	protein_coding, processed_transcript	uc010pot.1	nonsynonymous SNV	exon7	c.G1462A	p.E488K	GSHSESWFMPVNENSFPDWERTKLD	GSHSESWFMPVNKNSFPDWERTKLD	1.0	2.0	unscreened	-	3678_1:190067681-190067681 C>T_GSHSESWFMPVNKNSFPDWERTKLD
8:125072886-125072886 C>T	0.0	3678	MELANOMA	-	-	ID=COSM1700610;OCCURENCE=1(skin)	-	FER1L6	uc003yqw.3,p.S1028F|ENST00000522917,p.S1028F|NM_001039112,p.S1028F|ENST00000399018,p.S1028F	protein_coding	uc003yqw.3	nonsynonymous SNV	exon24	c.C3083T	p.S1028F	QALIECGGQGVKSCVIQSYKNNPNF	QALIECGGQGVKFCVIQSYKNNPNF	1.0	4.0	unscreened	-	3678_8:125072886-125072886 C>T_QALIECGGQGVKFCVIQSYKNNPNF
19:14093001-14093001 G>A	0.0	3678	MELANOMA	-	-	-	-	RFX1	ENST00000254325,p.P185S|uc002mxv.3,p.P185S|NM_002918,p.P185S|uc010dzi.2,p.P185S	retained_intron, protein_coding, processed_transcript	uc010dzi.2	nonsynonymous SNV	exon5	c.C553T	p.P185S	LPTQRLVVQSAAPGSKGGQVSLTVH	LPTQRLVVQSAASGSKGGQVSLTVH	5.0	8.0	unscreened	-	3678_19:14093001-14093001 G>A_LPTQRLVVQSAASGSKGGQVSLTVH
1:117311163-117311163 A>G	0.0	3678	MELANOMA	-	-	-	-	CD2	NM_001767,p.T272A|uc001egu.4,p.T272A|ENST00000369478,p.T272A	protein_coding	uc001egu.4	nonsynonymous SNV	exon5	c.A814G	p.T272A	ERGRKPHQIPASTPQNPATSQHPPP	ERGRKPHQIPASAPQNPATSQHPPP	7.0	1.0	unscreened	-	3678_1:117311163-117311163 A>G_ERGRKPHQIPASAPQNPATSQHPPP
1:116380793-116380793 C>G	0.0	3678	MELANOMA	-	-	-	-	NHLH2	uc021osf.1,p.E67D|uc001efy.3,p.E67D|ENST00000320238,p.E67D|ENST00000429731,p.E67D|uc009wgz.3,p.E67D|NM_001111061,p.E67D|NM_005599,p.E67D|ENST00000369506,p.E67D	protein_coding	uc021osf.1	nonsynonymous SNV	exon1	c.G201C	p.E67D	ALYPHPQQLSREEKRRRRRATAKYR	ALYPHPQQLSREDKRRRRRATAKYR	4.0	1.0	unscreened	-	3678_1:116380793-116380793 C>G_ALYPHPQQLSREDKRRRRRATAKYR
11:85584267-85584267 G>A	0.0	3678	MELANOMA	-	-	-	-	CCDC83	ENST00000280245,p.E37K|uc001pbh.1,p.E37K|NM_173556,p.E37K|uc001pbg.1,p.E37K|ENST00000342404,p.E37K|NM_001286159,p.E37K	protein_coding, processed_transcript	uc001pbh.1	nonsynonymous SNV	exon3	c.G109A	p.E37K	SEALLDYQCQIKEDAVEQFMFQIKT	SEALLDYQCQIKKDAVEQFMFQIKT	1.0	5.0	unscreened	-	3678_11:85584267-85584267 G>A_SEALLDYQCQIKKDAVEQFMFQIKT
16:81301575-81301575 C>T	0.0	3678	MELANOMA	-	-	-	-	BCO1	NM_017429,p.R228C|ENST00000425577,p.R159C|uc010vnp.1,p.R159C|ENST00000258168,p.R228C|uc002fgn.1,p.R228C	protein_coding, nonsense_mediated_decay	uc010vnp.1	nonsynonymous SNV	exon5	c.C475T	p.R159C	WKHTEVFCSIPSRSLLSPSYYHSFG	WKHTEVFCSIPSCSLLSPSYYHSFG	1.0	4.0	unscreened	-	3678_16:81301575-81301575 C>T_WKHTEVFCSIPSCSLLSPSYYHSFG
19:4494456-4494456 C>T	1.0	3678	MELANOMA	-	-	-	-	HDGFRP2	uc002map.3,p.A403V|uc002mao.3,p.A403V|ENST00000586684,p.A403V|NM_032631,p.A403V|ENST00000301284,p.A403V|NM_001001520,p.A403V	protein_coding, nonsense_mediated_decay	uc002map.3	nonsynonymous SNV	exon9	c.C1208T	p.A403V	RGPPSSSDSEPEAELEREAKKSAKK	RGPPSSSDSEPEVELEREAKKSAKK	9.0	2.0	-	-	3678_19:4494456-4494456 C>T_RGPPSSSDSEPEVELEREAKKSAKK
20:32267771-32267771 G>A	0.0	3678	MELANOMA	-	-	ID=COSM1713365;OCCURENCE=3(skin)	-	E2F1	NM_005225,p.S121F|ENST00000343380,p.S121F|uc002wzu.4,p.S121F	protein_coding	uc002wzu.4	nonsynonymous SNV	exon3	c.C362T	p.S121F	RGRGRHPGKGVKSPGEKSRYETSLN	RGRGRHPGKGVKFPGEKSRYETSLN	5.0	6.0	unscreened	-	3678_20:32267771-32267771 G>A_RGRGRHPGKGVKFPGEKSRYETSLN
1:152186708-152186708 C>T	0.0	3678	MELANOMA	-	-	-	-	HRNR	ENST00000368801,p.R2466H|NM_001009931,p.R2466H|uc001ezt.2,p.R2466H	protein_coding	uc001ezt.2	nonsynonymous SNV	exon3	c.G7397A	p.R2466H	SGHSSGLGHRESRSGQSSGYGQHGS	SGHSSGLGHRESHSGQSSGYGQHGS	1.0	1.0	unscreened	-	3678_1:152186708-152186708 C>T_SGHSSGLGHRESHSGQSSGYGQHGS
4:93511335-93511335 G>A	0.0	3678	MELANOMA	-	-	-	-	GRID2	NM_001510,p.V48I|NM_001286838,p.V48I|ENST00000510992,p.V48I|ENST00000282020,p.V48I|uc011cdu.2,p.V48I|uc010ikx.3,p.V48I|uc011cdt.2,p.V48I	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cdu.2	nonsynonymous SNV	exon2	c.G142A	p.V48I	SAKKDDEVFRTAVGDLNQNEEILQT	SAKKDDEVFRTAIGDLNQNEEILQT	1.0	8.0	unscreened	-	3678_4:93511335-93511335 G>A_SAKKDDEVFRTAIGDLNQNEEILQT
11:1093204-1093204 C>A	0.0	3678	MELANOMA	-	-	-	-	MUC2	uc001lsx.1,p.P1675T|NM_002457,p.P1675T	protein_coding	uc001lsx.1	nonsynonymous SNV	exon31	c.C5023A	p.P1675T	TTPSPPITTTTTPPPTTTPSSPITT	TTPSPPITTTTTTPPTTTPSSPITT	1.0	1.0	unscreened	-	3678_11:1093204-1093204 C>A_TTPSPPITTTTTTPPTTTPSSPITT
X:8763286-8763286 C>T	0.0	3678	MELANOMA	-	-	-	-	FAM9A	NM_174951,p.E222K|uc022bsk.1,p.E222K|ENST00000381003,p.E222K|uc004csg.3,p.E222K|ENST00000543214,p.E222K|NM_001171186,p.E222K	protein_coding	uc022bsk.1	nonsynonymous SNV	exon7	c.G664A	p.E222K	AAAAAEVIVVEDEEEEEKEEEEEKE	AAAAAEVIVVEDKEEEEKEEEEEKE	1.0	1.0	unscreened	-	3678_X:8763286-8763286 C>T_AAAAAEVIVVEDKEEEEKEEEEEKE
19:49442816-49442816 C>T	0.0	3678	MELANOMA	-	-	-	-	DHDH	ENST00000520557,p.P93S	protein_coding, nonsense_mediated_decay	ENST00000520557	nonsynonymous SNV	exon3	c.C277T	p.P93S	PGGSGRIWEESHPRSPGRRPGPGWG	PGGSGRIWEESHSRSPGRRPGPGWG	2.0	4.0	unscreened	-	3678_19:49442816-49442816 C>T_PGGSGRIWEESHSRSPGRRPGPGWG
9:118974151-118974151 G>A	0.0	3678	MELANOMA	-	-	-	-	PAPPA	NM_002581,p.D620N|ENST00000328252,p.D620N|uc004bjn.3,p.D620N	protein_coding, processed_transcript	uc004bjn.3	nonsynonymous SNV	exon4	c.G1858A	p.D620N	KHKSCGDPGPGNDTCGFHSFFNTPY	KHKSCGDPGPGNNTCGFHSFFNTPY	3.0	9.0	unscreened	-	3678_9:118974151-118974151 G>A_KHKSCGDPGPGNNTCGFHSFFNTPY
8:139838948-139838948 C>T	0.0	3678	MELANOMA	-	-	-	-	COL22A1	ENST00000303045,p.E308K|NM_152888,p.E308K|ENST00000435777,p.E308K|uc003yvd.3,p.E308K	protein_coding, processed_transcript	uc003yvd.3	nonsynonymous SNV	exon6	c.G922A	p.E308K	VTTFRFRKTSRKEDWYIWQVIDQYS	VTTFRFRKTSRKKDWYIWQVIDQYS	3.0	8.0	unscreened	-	3678_8:139838948-139838948 C>T_VTTFRFRKTSRKKDWYIWQVIDQYS
19:51561890-51561890 G>A	0.0	3678	MELANOMA	-	-	ID=COSM999916;OCCURENCE=1(endometrium),1(skin)	-	KLK13	ENST00000595793,p.R184C|ENST00000595547,p.R111C|NM_015596,p.R184C|uc010eoo.3,p.R32C|ENST00000335422,p.R32C|uc010eon.3,p.R111C|uc002pvn.3,p.R184C	protein_coding, nonsense_mediated_decay	uc010eoo.3	nonsynonymous SNV	exon2	c.C94T	p.R32C	YPKTLQCANIQLRSDEECRQVYPGK	YPKTLQCANIQLCSDEECRQVYPGK	1.0	7.0	unscreened	-	3678_19:51561890-51561890 G>A_YPKTLQCANIQLCSDEECRQVYPGK
11:75509336-75509336 G>A	0.0	3678	MELANOMA	-	-	-	-	DGAT2	uc001oxb.3,p.E249K|NM_032564,p.E292K|ENST00000376262,p.E249K|uc001oxa.3,p.E292K|ENST00000228027,p.E292K|NM_001253891,p.E249K|ENST00000604733,p.E246K	protein_coding	uc001oxb.3	nonsynonymous SNV	exon6	c.G745A	p.E249K	GENEVYKQVIFEEGSWGRWVQKKFQ	GENEVYKQVIFEKGSWGRWVQKKFQ	4.0	4.0	unscreened	-	3678_11:75509336-75509336 G>A_GENEVYKQVIFEKGSWGRWVQKKFQ
12:7922720-7922720 G>A	0.0	3678	MELANOMA	0.01	-	-	-	NANOGNB	uc009zfx.2,p.E82K|NM_001145465,p.E82K|ENST00000382119,p.E82K	protein_coding	uc009zfx.2	nonsynonymous SNV	exon2	c.G244A	p.E82K	GRKREREKEEKNEKELQDEQENKRK	GRKREREKEEKNKKELQDEQENKRK	1.0	1.0	unscreened	-	3678_12:7922720-7922720 G>A_GRKREREKEEKNKKELQDEQENKRK
5:13793730-13793730 C>T	0.0	3678	MELANOMA	-	-	-	-	DNAH5	ENST00000265104,p.M2706I|uc003jfd.2,p.M2706I|NM_001369,p.M2706I	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon49	c.G8118A	p.M2706I	FTSIVDIQFLAAMIHPGGGRNDIPQ	FTSIVDIQFLAAIIHPGGGRNDIPQ	2.0	2.0	unscreened	-	3678_5:13793730-13793730 C>T_FTSIVDIQFLAAIIHPGGGRNDIPQ
19:9004899-9004899 C>T	0.0	3678	MELANOMA	-	-	-	2	MUC16	uc010dwj.3,p.E124K|ENST00000397910,p.E13307K|NM_024690,p.E13307K|uc002mkp.3,p.E13307K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dwj.3	nonsynonymous SNV	exon5	c.G370A	p.E124K	TPGTFTVQPETSETPSSLPGPTATG	TPGTFTVQPETSKTPSSLPGPTATG	1.0	5.0	unscreened	-	3678_19:9004899-9004899 C>T_TPGTFTVQPETSKTPSSLPGPTATG
19:10084885-10084885 G>A	1.0	3678	MELANOMA	-	-	-	-	COL5A3	NM_015719,p.P1156S|uc002mmq.1,p.P1156S|ENST00000264828,p.P1156S	retained_intron, protein_coding	uc002mmq.1	nonsynonymous SNV	exon47	c.C3466T	p.P1156S	IGPPGLQGLPGPPGEKGEVGDVGSM	IGPPGLQGLPGPSGEKGEVGDVGSM	5.0	6.0	-	-	3678_19:10084885-10084885 G>A_IGPPGLQGLPGPSGEKGEVGDVGSM
11:114393070-114393070 C>T	0.0	3678	MELANOMA	-	-	-	-	NXPE1	ENST00000251921,p.E280K|NM_152315,p.E280K|ENST00000536271,p.E138K|uc001ppa.3,p.E280K|uc010rxd.2,p.E129K|ENST00000424269,p.E422K	protein_coding	uc010rxd.2	nonsynonymous SNV	exon4	c.G385A	p.E129K	LYSLIDHDYIPREIDRLSGDKNTAI	LYSLIDHDYIPRKIDRLSGDKNTAI	1.0	3.0	unscreened	-	3678_11:114393070-114393070 C>T_LYSLIDHDYIPRKIDRLSGDKNTAI
19:51480934-51480934 C>T	0.0	3678	MELANOMA	-	-	-	-	KLK7	uc002puo.3,p.G207E|NM_001207053,p.G135E|uc002pup.3,p.G207E|NM_005046,p.G207E|ENST00000597707,p.G135E|ENST00000595820,p.G207E|ENST00000391807,p.G207E|uc021uyj.1,p.G200E|NM_139277,p.G207E|uc010eok.3,p.G135E|ENST00000336317,p.G94E|NM_001243126,p.G200E	protein_coding, processed_transcript, nonsense_mediated_decay	uc021uyj.1	nonsynonymous SNV	exon5	c.G599A	p.G200E	DSKKNACNGDSGGPLVCRGTLQGLV	DSKKNACNGDSGEPLVCRGTLQGLV	1.0	8.0	unscreened	-	3678_19:51480934-51480934 C>T_DSKKNACNGDSGEPLVCRGTLQGLV
19:54394940-54394940 G>A	0.0	3678	MELANOMA	-	-	ID=COSM1564240,COSM1564241;OCCURENCE=2(large_intestine)	-	PRKCG	uc010yeg.1,p.R181H|ENST00000540413,p.R181H|ENST00000263431,p.R181H|uc010yef.1,p.R181H|uc010yeh.1,p.R68H|uc010eqz.1,p.R181H|ENST00000536044,p.R181H|ENST00000542049,p.R68H|uc002qcq.1,p.R181H|NM_002739,p.R181H|ENST00000474397,p.R53H	protein_coding	uc010yeh.1	nonsynonymous SNV	exon4	c.G203A	p.R68H	TADEIHVTVGEARNLIPMDPNGLSD	TADEIHVTVGEAHNLIPMDPNGLSD	1.0	8.0	unscreened	-	3678_19:54394940-54394940 G>A_TADEIHVTVGEAHNLIPMDPNGLSD
6:40359870-40359870 C>T	0.0	3678	MELANOMA	-	-	-	-	LRFN2	ENST00000338305,p.D728N|uc003oph.1,p.D728N|NM_020737,p.D728N	protein_coding	uc003oph.1	nonsynonymous SNV	exon3	c.G2182A	p.D728N	GKAKRSHSFDMGDFAAAAAGGVVPG	GKAKRSHSFDMGNFAAAAAGGVVPG	1.0	2.0	unscreened	-	3678_6:40359870-40359870 C>T_GKAKRSHSFDMGNFAAAAAGGVVPG
17:42849004-42849004 C>T	0.0	3678	MELANOMA	-	-	ID=COSM1325031,COSM1325032;OCCURENCE=1(ovary)	-	ADAM11	uc002ihh.3,p.S145F|ENST00000200557,p.S145F|ENST00000355638,p.S145F|NM_002390,p.S145F|ENST00000587773,p.S39F	retained_intron, protein_coding, nonsense_mediated_decay	uc002ihh.3	nonsynonymous SNV	exon5	c.C434T	p.S145F	CYYQGKLRGNPHSFAALSTCQGLHG	CYYQGKLRGNPHFFAALSTCQGLHG	2.0	4.0	unscreened	-	3678_17:42849004-42849004 C>T_CYYQGKLRGNPHFFAALSTCQGLHG
15:89400146-89400146 G>A	0.0	3678	MELANOMA	-	-	-	-	ACAN	NM_001135,p.G1444R|ENST00000559004,p.G1444R|uc010upo.1,p.G1444R|ENST00000352105,p.G1444R|uc010upp.1,p.G1444R|ENST00000439576,p.G1444R|ENST00000561243,p.G1444R|NM_013227,p.G1444R	retained_intron, protein_coding	uc010upp.1	nonsynonymous SNV	exon12	c.G4330A	p.G1444R	LPSGEVLETTAPGVEEISGLPSGEV	LPSGEVLETTAPRVEEISGLPSGEV	2.0	3.0	unscreened	-	3678_15:89400146-89400146 G>A_LPSGEVLETTAPRVEEISGLPSGEV
19:19747573-19747573 C>T	0.0	3678	MELANOMA	-	-	-	-	GMIP	ENST00000203556,p.D424N|uc002nnd.3,p.D424N|ENST00000587238,p.D424N|uc010xrb.2,p.D424N|NM_016573,p.D424N|NM_001288999,p.D424N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xrb.2	nonsynonymous SNV	exon13	c.G1270A	p.D424N	QGTPGPTPGSDVDSVGGGSESRSLD	QGTPGPTPGSDVNSVGGGSESRSLD	6.0	5.0	unscreened	-	3678_19:19747573-19747573 C>T_QGTPGPTPGSDVNSVGGGSESRSLD
19:19747573-19747573 C>T	0.0	3678	MELANOMA	-	-	-	-	GMIP	ENST00000445806,p.D421N|uc010xrc.2,p.D421N|NM_001288998,p.D421N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xrc.2	nonsynonymous SNV	exon13	c.G1261A	p.D421N	WRWQGPTPGSDVDSVGGGSESRSLD	WRWQGPTPGSDVNSVGGGSESRSLD	6.0	5.0	unscreened	-	3678_19:19747573-19747573 C>T_WRWQGPTPGSDVNSVGGGSESRSLD
8:102570723-102570723 C>T	0.0	3678	MELANOMA	-	-	-	-	GRHL2	ENST00000251808,p.P121S|uc010mbu.3,p.P121S|NM_024915,p.P121S|ENST00000395927,p.P105S|uc011lhi.1,p.P121S	retained_intron, protein_coding, processed_transcript	uc011lhi.1	nonsynonymous SNV	exon4	c.C361T	p.P121S	GGENRVQVLKTVPVNLSLNQDHLEN	GGENRVQVLKTVSVNLSLNQDHLEN	1.0	5.0	unscreened	-	3678_8:102570723-102570723 C>T_GGENRVQVLKTVSVNLSLNQDHLEN
8:124206271-124206271 C>T	0.0	3678	MELANOMA	-	-	-	-	FAM83A	uc003ypx.3,p.S219F|ENST00000518448,p.S219F|uc003ypw.3,p.S219F|NM_207006,p.S219F|NM_032899,p.S219F|ENST00000536633,p.S219F|ENST00000276699,p.S219F|ENST00000318462,p.S219F|uc003ypv.3,p.S219F|uc003ypz.3,p.S219F	retained_intron, protein_coding, processed_transcript	uc003ypz.3	nonsynonymous SNV	exon3	c.C656T	p.S219F	KVQISDSHLKNISIRSVEGEIYCAK	KVQISDSHLKNIFIRSVEGEIYCAK	1.0	4.0	unscreened	-	3678_8:124206271-124206271 C>T_KVQISDSHLKNIFIRSVEGEIYCAK
20:3065239-3065239 C>T	0.0	3678	MELANOMA	-	-	-	-	AVP	NM_000490,p.G28S|ENST00000380293,p.G28S|uc002whu.3,p.G28S	protein_coding	uc002whu.3	nonsynonymous SNV	exon1	c.G82A	p.G28S	FSSACYFQNCPRGGKRAMSDLELRQ	FSSACYFQNCPRSGKRAMSDLELRQ	1.0	8.0	unscreened	-	3678_20:3065239-3065239 C>T_FSSACYFQNCPRSGKRAMSDLELRQ
12:70954679-70954679 G>A	0.0	3678	MELANOMA	-	-	-	1	PTPRB	ENST00000261266,p.R1184W|ENST00000538708,p.R1094W|uc009zrr.2,p.R1281W|ENST00000451516,p.R1094W|ENST00000548122,p.R1281W|ENST00000551525,p.R1401W|ENST00000334414,p.R1402W|NM_001109754,p.R1402W|uc001swa.4,p.R1314W|uc001swb.4,p.R1184W|uc010sto.2,p.R1094W|ENST00000550857,p.R1094W|uc001swd.4,p.R1401W|NM_001206971,p.R1094W|NM_002837,p.R1184W|uc001swc.4,p.R1402W|NM_001206972,p.R1094W|uc010stp.2,p.R1094W|ENST00000550358,p.R1314W	retained_intron, protein_coding, processed_transcript	uc010stp.2	nonsynonymous SNV	exon14	c.C3280T	p.R1094W	VPASVSHLRGSNRNTTDSLWFNWSP	VPASVSHLRGSNWNTTDSLWFNWSP	5.0	8.0	unscreened	-	3678_12:70954679-70954679 G>A_VPASVSHLRGSNWNTTDSLWFNWSP
8:92972498-92972498 G>A	0.0	3678	MELANOMA	-	-	-	1	RUNX1T1	uc022axp.1,p.P596L|NM_001198626,p.P596L|ENST00000523629,p.P596L|uc022axv.1,p.P596L|uc003yfe.2,p.P559L|uc010mam.3,p.P569L|uc022axs.1,p.P655L|NM_001198629,p.P596L|NM_001198625,p.P569L|NM_001198632,p.P569L|uc010mao.3,p.P569L|uc022axq.1,p.P596L|NM_001198630,p.P596L|ENST00000396218,p.P569L|NM_001198634,p.P607L|ENST00000518844,p.P569L|uc022axr.1,p.P596L|NM_001198633,p.P576L|NM_001198627,p.P596L|NM_001198628,p.P596L|NM_004349,p.P569L|ENST00000520724,p.P559L|NM_175635,p.P559L|ENST00000265814,p.P596L|NM_175636,p.P559L|uc011lgi.2,p.P607L|NM_175634,p.P596L|uc003yfd.3,p.P596L|ENST00000422361,p.P559L|uc003yfb.2,p.P559L|ENST00000436581,p.P607L|uc003yfc.2,p.P569L|uc022axt.1,p.P596L|uc022axo.1,p.P596L|uc010man.2,p.P221L|NM_001198631,p.P596L|uc022axu.1,p.P576L|NM_001198679,p.P655L|ENST00000360348,p.P559L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022axv.1	nonsynonymous SNV	exon12	c.C1787T	p.P596L	PAATPRSTTPGTPSTIETTPR	PAATPRSTTPGTLSTIETTPR	4.0	4.0	unscreened	-	3678_8:92972498-92972498 G>A_PAATPRSTTPGTLSTIETTPR
5:112769483-112769483 C>T	0.0	3678	MELANOMA	-	-	-	-	TSSK1B	uc003kqm.2,p.E352K|NM_032028,p.E352K|ENST00000390666,p.E352K	protein_coding	uc003kqm.2	nonsynonymous SNV	exon1	c.G1054A	p.E352K	EILGFPSKPSTMETEEGPPQQPPET	EILGFPSKPSTMKTEEGPPQQPPET	1.0	4.0	unscreened	-	3678_5:112769483-112769483 C>T_EILGFPSKPSTMKTEEGPPQQPPET
21:43327206-43327206 C>T	1.0	3678	MELANOMA	-	-	-	-	C2CD2	uc002yzx.1,p.E250K|NM_015500,p.E405K|uc002yzt.3,p.E21K|uc002yzv.3,p.E250K|NM_199050,p.E250K|ENST00000380486,p.E405K|uc002yzw.3,p.E405K|uc002yzu.3,p.E237K|ENST00000329623,p.E250K	retained_intron, protein_coding, processed_transcript	uc002yzx.1	nonsynonymous SNV	exon9	c.G748A	p.E250K	WPIPPPVPAAKIEKDRTVMPCGTVV	WPIPPPVPAAKIKKDRTVMPCGTVV	7.0	4.0	-	-	3678_21:43327206-43327206 C>T_WPIPPPVPAAKIKKDRTVMPCGTVV
6:100838809-100838809 C>T	0.0	3678	MELANOMA	-	-	-	-	SIM1	uc021zdg.1,p.E577K|uc010kcu.3,p.E577K|uc003pqj.4,p.E577K|NM_005068,p.E577K|ENST00000369208,p.E577K|ENST00000262901,p.E577K	retained_intron, protein_coding	uc021zdg.1	nonsynonymous SNV	exon11	c.G1729A	p.E577K	ETLIRATQQMIKEEENRLQLRKAPS	ETLIRATQQMIKKEENRLQLRKAPS	2.0	5.0	unscreened	-	3678_6:100838809-100838809 C>T_ETLIRATQQMIKKEENRLQLRKAPS
4:151773609-151773609 G>A	1.0	3678	MELANOMA	-	-	-	-	LRBA	NM_001199282,p.P1085S|ENST00000507224,p.P1085S|uc010ipj.3,p.P1085S|NM_006726,p.P1085S|uc003ilu.4,p.P1085S|ENST00000510413,p.P1085S|ENST00000357115,p.P1085S|ENST00000535741,p.P1085S	retained_intron, protein_coding, processed_transcript	uc010ipj.3	nonsynonymous SNV	exon23	c.C3253T	p.P1085S	MTVSEVTASISSPSEEDASEMPEFL	MTVSEVTASISSSSEEDASEMPEFL	8.0	5.0	-	-	3678_4:151773609-151773609 G>A_MTVSEVTASISSSSEEDASEMPEFL
3:151155406-151155406 C>T	0.0	3678	MELANOMA	-	-	-	-	IGSF10	uc011boc.2,p.A294T|uc011bob.2,p.A342T|NM_001178146,p.A294T|uc011bod.2,p.A2315T|ENST00000282466,p.A2315T|NM_001178145,p.A342T|NM_178822,p.A2315T	protein_coding, processed_transcript	uc011bod.2	nonsynonymous SNV	exon6	c.G6943A	p.A2315T	VRLSDSADFICVARNEGGESVLVVQ	VRLSDSADFICVTRNEGGESVLVVQ	4.0	3.0	unscreened	-	3678_3:151155406-151155406 C>T_VRLSDSADFICVTRNEGGESVLVVQ
X:17818903-17818903 C>T	0.0	3678	MELANOMA	-	-	-	-	RAI2	ENST00000451717,p.E410K|uc004cyg.3,p.E410K|NM_001172743,p.E410K|ENST00000415486,p.E360K|uc011miy.2,p.E360K|ENST00000360011,p.E410K|uc022btl.1,p.E410K|ENST00000545871,p.E410K|uc004cyh.4,p.E410K|ENST00000331511,p.E410K|uc022btm.1,p.E410K|uc004cyf.3,p.E410K|NM_001172732,p.E360K|NM_021785,p.E410K|NM_001172739,p.E410K|uc010nfa.3,p.E410K	protein_coding	uc022btm.1	nonsynonymous SNV	exon1	c.G1228A	p.E410K	MDSHISSSDAATEMLSQPNHPSGEV	MDSHISSSDAATKMLSQPNHPSGEV	2.0	2.0	unscreened	-	3678_X:17818903-17818903 C>T_MDSHISSSDAATKMLSQPNHPSGEV
6:38877357-38877357 G>A	0.0	3678	MELANOMA	-	-	-	-	DNAH8	uc021yzh.1,p.D3193N|ENST00000441566,p.D2940N|ENST00000449981,p.D3193N|ENST00000359357,p.D2976N|ENST00000327475,p.D3181N|uc003ooe.2,p.D2976N|NM_001206927,p.D3193N	protein_coding	uc021yzh.1	nonsynonymous SNV	exon65	c.G9577A	p.D3193N	LKFPGLISGCTMDWFSRWPREALIA	LKFPGLISGCTMNWFSRWPREALIA	1.0	3.0	unscreened	-	3678_6:38877357-38877357 G>A_LKFPGLISGCTMNWFSRWPREALIA
17:80071449-80071449 C>T	1.0	3678	MELANOMA	-	-	-	-	CCDC57	uc002kdy.3,p.R226Q|ENST00000392346,p.R277Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kdy.3	nonsynonymous SNV	exon5	c.G677A	p.R226Q	ASLVRSTWAPGMRGGMNGGSSSVCK	ASLVRSTWAPGMQGGMNGGSSSVCK	8.0	3.0	-	-	3678_17:80071449-80071449 C>T_ASLVRSTWAPGMQGGMNGGSSSVCK
5:13754354-13754354 C>T	0.0	3678	MELANOMA	-	-	-	-	DNAH5	uc003jfd.2,p.E3505K|ENST00000265104,p.E3505K|NM_001369,p.E3505K	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon62	c.G10513A	p.E3505K	ISGLAGEKERWTEQSQEFAAQTKRL	ISGLAGEKERWTKQSQEFAAQTKRL	2.0	5.0	unscreened	-	3678_5:13754354-13754354 C>T_ISGLAGEKERWTKQSQEFAAQTKRL
1:150681370-150681370 C>T	0.0	3678	MELANOMA	-	-	-	-	HORMAD1	ENST00000368995,p.S52N|ENST00000322343,p.S125N|NM_032132,p.S132N|uc001evm.2,p.S52N|ENST00000368987,p.S61N|ENST00000361824,p.S132N|uc001evk.2,p.S132N|NM_001199829,p.S125N|ENST00000442853,p.S54N|uc001evl.2,p.S125N|ENST00000368993,p.S132N	protein_coding, processed_transcript	uc001evm.2	nonsynonymous SNV	exon6	c.G155A	p.S52N	KYTNNGPLMDFISKNQSNESSMLST	KYTNNGPLMDFINKNQSNESSMLST	3.0	2.0	unscreened	-	3678_1:150681370-150681370 C>T_KYTNNGPLMDFINKNQSNESSMLST
15:66215218-66215218 G>T	0.0	3678	MELANOMA	-	-	-	-	MEGF11	uc002apl.2,p.P514T|ENST00000395625,p.P514T|ENST00000360698,p.P589T|uc002apm.2,p.P589T|NM_032445,p.P589T|ENST00000490495,p.P293T|ENST00000409699,p.P589T|uc002apn.1,p.P589T|ENST00000288745,p.P514T|ENST00000422354,p.P589T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002apn.1	nonsynonymous SNV	exon14	c.C1765A	p.P589T	VSCSCENGGSCSPEDGSCECAPGFR	VSCSCENGGSCSTEDGSCECAPGFR	1.0	7.0	unscreened	-	3678_15:66215218-66215218 G>T_VSCSCENGGSCSTEDGSCECAPGFR
19:42492651-42492651 C>G	0.0	3678	MELANOMA	-	-	-	-	ATP1A3	NM_001256213,p.D35H|uc010xwf.2,p.D35H|NM_001256214,p.D37H|ENST00000545399,p.D37H|uc002osh.4,p.D24H|ENST00000543770,p.D35H|NM_152296,p.D24H|uc002osg.4,p.D24H|uc010xwh.3,p.D37H|ENST00000441343,p.D24H|ENST00000302102,p.D24H	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc010xwh.3	nonsynonymous SNV	exon2	c.G109C	p.D37H	KKNKGKERRDLDDLKKEVAMTEHKM	KKNKGKERRDLDHLKKEVAMTEHKM	3.0	6.0	unscreened	-	3678_19:42492651-42492651 C>G_KKNKGKERRDLDHLKKEVAMTEHKM
1:207112542-207112542 C>T	0.0	3678	MELANOMA	-	-	-	-	PIGR	uc009xbz.3,p.D104N|NM_002644,p.D104N|uc001hez.3,p.D104N|ENST00000356495,p.D104N	protein_coding, processed_transcript	uc009xbz.3	nonsynonymous SNV	exon4	c.G310A	p.D104N	TFVVNIAQLSQDDSGRYKCGLGINS	TFVVNIAQLSQDNSGRYKCGLGINS	1.0	3.0	unscreened	-	3678_1:207112542-207112542 C>T_TFVVNIAQLSQDNSGRYKCGLGINS
8:54147340-54147340 C>T	0.0	3678	MELANOMA	-	-	-	-	OPRK1	NM_000912,p.G197R|uc010lyc.1,p.G108R|uc003xri.1,p.G197R|uc003xrh.1,p.G197R|ENST00000524278,p.G108R|ENST00000265572,p.G197R|ENST00000520287,p.G197R|NM_001282904,p.G108R|uc022aup.1,p.G77R	protein_coding, nonsense_mediated_decay	uc022aup.1	nonsynonymous SNV	exon2	c.G229A	p.G77R	LSSSVGISAIVLGGTKVREDVDVIE	LSSSVGISAIVLRGTKVREDVDVIE	1.0	5.0	unscreened	-	3678_8:54147340-54147340 C>T_LSSSVGISAIVLRGTKVREDVDVIE
20:2381065-2381065 G>A	0.0	3678	MELANOMA	-	-	-	-	TGM6	ENST00000202625,p.E322K|uc010gal.1,p.E322K|ENST00000381423,p.E322K|NM_198994,p.E322K|NM_001254734,p.E322K|uc002wfy.1,p.E322K	protein_coding, processed_transcript	uc010gal.1	nonsynonymous SNV	exon7	c.G964A	p.E322K	VDKYVDSFGRTLEDLTEDSMWNFHV	VDKYVDSFGRTLKDLTEDSMWNFHV	1.0	3.0	unscreened	-	3678_20:2381065-2381065 G>A_VDKYVDSFGRTLKDLTEDSMWNFHV
20:42089698-42089698 G>T	1.0	3678	MELANOMA	-	-	-	-	SRSF6	uc010zwg.2,p.D344Y|NM_006275,p.D344Y|uc002xki.3,p.D215Y|ENST00000244020,p.D344Y	protein_coding, nonsense_mediated_decay	uc010zwg.2	nonsynonymous SNV	exon6	c.G1030T	p.D344Y	SKSRSRSRSSSRD	SKSRSRSRSSSRY	9.0	4.0	unscreened	-	3678_20:42089698-42089698 G>T_SKSRSRSRSSSRY
17:42335498-42335498 C>T	0.0	3678	MELANOMA	-	-	ID=COSM1383637;OCCURENCE=1(large_intestine)	-	SLC4A1	ENST00000262418,p.G380R|NM_000342,p.G380R|uc002igf.4,p.G380R	retained_intron, protein_coding, processed_transcript	uc002igf.4	nonsynonymous SNV	exon11	c.G1138A	p.G380R	PDDPLQQTGQLFGGLVRDIRRRYPY	PDDPLQQTGQLFRGLVRDIRRRYPY	1.0	5.0	unscreened	-	3678_17:42335498-42335498 C>T_PDDPLQQTGQLFRGLVRDIRRRYPY
11:6977493-6977493 C>T	0.0	3678	MELANOMA	-	-	-	-	ZNF215	ENST00000414517,p.H429Y|ENST00000278319,p.H429Y|uc001mey.3,p.H429Y|NM_013250,p.H429Y|uc010rax.2,p.H191Y|uc010raw.3,p.H203Y	protein_coding, processed_transcript	uc010rax.2	nonsynonymous SNV	exon5	c.C571T	p.H191Y	NRRTNLTKHQKLHAEAKACTSNKCG	NRRTNLTKHQKLYAEAKACTSNKCG	5.0	5.0	unscreened	-	3678_11:6977493-6977493 C>T_NRRTNLTKHQKLYAEAKACTSNKCG
1:156900333-156900333 C>T	0.0	3678	MELANOMA	-	-	-	-	LRRC71	NM_144702,p.P418L|uc001fql.2,p.P203L|uc001fqm.2,p.P418L|ENST00000337428,p.P418L	protein_coding, processed_transcript	uc001fqm.2	nonsynonymous SNV	exon12	c.C1253T	p.P418L	DATKAGKGKVTIPEQKPSRAKGIKI	DATKAGKGKVTILEQKPSRAKGIKI	2.0	4.0	unscreened	-	3678_1:156900333-156900333 C>T_DATKAGKGKVTILEQKPSRAKGIKI
19:10124120-10124120 G>A	0.0	3678	MELANOMA	-	-	-	-	RDH8	ENST00000591589,p.G3S|NM_015725,p.G3S|uc002mmr.4,p.G3S	retained_intron, protein_coding	uc002mmr.4	nonsynonymous SNV	exon1	c.G7A	p.G3S	MNGQSQVLPGGGHES	MNSQSQVLPGGGHES	7.0	7.0	unscreened	-	3678_19:10124120-10124120 G>A_MNSQSQVLPGGGHES
13:28622574-28622574 C>T	0.0	3678	MELANOMA	-	-	-	1	FLT3	ENST00000537084,p.G348E|ENST00000241453,p.G348E|uc001urw.3,p.G348E|NM_004119,p.G348E|uc010tdn.2,p.G348E|ENST00000380982,p.G348E|ENST00000380987,p.G348E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tdn.2	nonsynonymous SNV	exon9	c.G1043A	p.G348E	PSQSALVTIVEKGFINATNSSEDYE	PSQSALVTIVEKEFINATNSSEDYE	3.0	7.0	unscreened	-	3678_13:28622574-28622574 C>T_PSQSALVTIVEKEFINATNSSEDYE
8:24349441-24349441 G>A	0.0	3678	MELANOMA	-	-	-	-	ADAM7	uc003xec.3,p.R233K|uc003xeb.3,p.R461K|NM_003817,p.R461K|ENST00000520720,p.R233K|ENST00000380789,p.R461K|ENST00000175238,p.R461K	protein_coding	uc003xec.3	nonsynonymous SNV	exon8	c.G698A	p.R233K	ESCQIKKAGSICRPAKDECDFPEMC	ESCQIKKAGSICKPAKDECDFPEMC	1.0	3.0	unscreened	-	3678_8:24349441-24349441 G>A_ESCQIKKAGSICKPAKDECDFPEMC
3:186459998-186459998 G>A	0.0	3678	MELANOMA	-	-	-	-	KNG1	NM_001102416,p.D605N|ENST00000265023,p.D605N|uc011bsa.2,p.D605N	protein_coding	uc011bsa.2	nonsynonymous SNV	exon10	c.G1813A	p.D605N	IDPNGLSFNPISDFPDTTSPKCPGR	IDPNGLSFNPISNFPDTTSPKCPGR	1.0	7.0	unscreened	-	3678_3:186459998-186459998 G>A_IDPNGLSFNPISNFPDTTSPKCPGR
12:6078557-6078557 C>T	0.0	3678	MELANOMA	-	-	-	-	VWF	NM_000552,p.V2517I|ENST00000261405,p.V2517I|uc001qnn.1,p.V2517I	protein_coding, processed_transcript, nonsense_mediated_decay	uc001qnn.1	nonsynonymous SNV	exon45	c.G7549A	p.V2517I	SPRGDSQSSWKSVGSQWASPENPCL	SPRGDSQSSWKSIGSQWASPENPCL	5.0	5.0	unscreened	-	3678_12:6078557-6078557 C>T_SPRGDSQSSWKSIGSQWASPENPCL
14:101195296-101195296 C>T	0.0	3678	MELANOMA	-	-	-	-	DLK1	ENST00000341267,p.P52L|NM_003836,p.P52L|ENST00000556051,p.P52L|ENST00000392848,p.P52L|uc001yhu.4,p.P52L|ENST00000331224,p.P52L|uc001yhs.4,p.P52L	retained_intron, protein_coding	uc001yhu.4	nonsynonymous SNV	exon3	c.C155T	p.P52L	DNVCRCQPGWQGPLCDQCVTSPGCL	DNVCRCQPGWQGLLCDQCVTSPGCL	1.0	4.0	unscreened	-	3678_14:101195296-101195296 C>T_DNVCRCQPGWQGLLCDQCVTSPGCL
6:7606349-7606349 G>C	1.0	3678	MELANOMA	-	-	-	-	SNRNP48	uc003mxr.3,p.D298H|NM_152551,p.D298H|ENST00000342415,p.D298H|uc003mxt.1,p.D50H	retained_intron, protein_coding	uc003mxt.1	nonsynonymous SNV	exon3	c.G148C	p.D50H	SYLDAECSRHRRDRSRSPHKRKRNK	SYLDAECSRHRRHRSRSPHKRKRNK	6.0	7.0	-	-	3678_6:7606349-7606349 G>C_SYLDAECSRHRRHRSRSPHKRKRNK
11:7981250-7981250 C>T	0.0	3678	MELANOMA	-	-	ID=COSM227564;OCCURENCE=1(skin)	-	NLRP10	NM_176821,p.E637K|uc001mfv.1,p.E637K|ENST00000328600,p.E637K	protein_coding	uc001mfv.1	nonsynonymous SNV	exon2	c.G1909A	p.E637K	KEGKDNIAGTQKEASTGKGRGTEET	KEGKDNIAGTQKKASTGKGRGTEET	1.0	3.0	unscreened	-	3678_11:7981250-7981250 C>T_KEGKDNIAGTQKKASTGKGRGTEET
16:48162452-48162452 G>A	0.0	3678	MELANOMA	-	-	-	-	ABCC12	ENST00000529084,p.P478L|ENST00000529504,p.P478L|uc002efe.1,p.P478L|ENST00000532494,p.P478L|NM_033226,p.P478L|ENST00000416054,p.P478L|ENST00000534418,p.P420L|ENST00000311303,p.P478L|ENST00000448542,p.P478L|ENST00000497206,p.P478L|uc002efc.1,p.P478L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002efe.1	nonsynonymous SNV	exon10	c.C1433T	p.P478L	KQRSEAYSERSPPAKGATGPEEQSD	KQRSEAYSERSPLAKGATGPEEQSD	1.0	7.0	unscreened	-	3678_16:48162452-48162452 G>A_KQRSEAYSERSPLAKGATGPEEQSD
19:11517249-11517249 C>T	0.0	3678	MELANOMA	-	-	-	-	RGL3	NM_001035223,p.R281Q|ENST00000393423,p.R281Q|uc002mrp.2,p.R281Q|uc002mrm.2,p.R45Q|ENST00000380456,p.R281Q|NM_001161616,p.R281Q|uc002mrn.2,p.R45Q|uc002mro.2,p.R281Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mrp.2	nonsynonymous SNV	exon7	c.G842A	p.R281Q	YECLGSVWSQRDRPGAAGASPTVRA	YECLGSVWSQRDQPGAAGASPTVRA	3.0	6.0	unscreened	-	3678_19:11517249-11517249 C>T_YECLGSVWSQRDQPGAAGASPTVRA
18:44559598-44559598 C>T	0.0	3678	MELANOMA	-	-	-	-	TCEB3B	NM_016427,p.G680R|uc002lcr.1,p.G680R|ENST00000332567,p.G680R	protein_coding	uc002lcr.1	nonsynonymous SNV	exon1	c.G2038A	p.G680R	ENGEIKPASKPAGSSHTPSSQSSSG	ENGEIKPASKPARSSHTPSSQSSSG	1.0	7.0	unscreened	-	3678_18:44559598-44559598 C>T_ENGEIKPASKPARSSHTPSSQSSSG
15:85147327-85147327 C>T	0.0	3678	MELANOMA	-	-	ID=COSM1708479;OCCURENCE=1(skin)	-	ZSCAN2	ENST00000448803,p.P57S|NM_181877,p.P57S|ENST00000546148,p.P57S|ENST00000538076,p.P57S|ENST00000485222,p.P57S|ENST00000327179,p.P57S|uc002bkr.3,p.P57S|NM_017894,p.P57S|ENST00000334141,p.P57S|uc002bkp.3,p.P57S|ENST00000541040,p.P57S|uc010uox.1,p.P56S|NM_001007072,p.P57S|ENST00000540936,p.P57S|uc010uoz.1,p.P56S|uc010bmz.1,p.P56S|uc010uoy.1,p.P56S|ENST00000379358,p.P57S|ENST00000540894,p.P57S|uc002bkq.3,p.P57S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010uoz.1	nonsynonymous SNV	exon1	c.C166T	p.P56S	VLQEDGPESEPFPQSAGKGGPQEEV	VLQEDGPESEPFSQSAGKGGPQEEV	5.0	4.0	unscreened	-	3678_15:85147327-85147327 C>T_VLQEDGPESEPFSQSAGKGGPQEEV
2:1946826-1946826 C>T	0.0	3678	MELANOMA	-	-	-	-	MYT1L	uc002qxe.3,p.D145N|ENST00000399161,p.D145N|uc002qxd.3,p.D145N|ENST00000428368,p.D145N|NM_015025,p.D145N	retained_intron, protein_coding, processed_transcript	uc002qxe.3	nonsynonymous SNV	exon9	c.G433A	p.D145N	EEIEEEDEDDDEDGEDVEDEEEEEE	EEIEEEDEDDDENGEDVEDEEEEEE	1.0	7.0	unscreened	-	3678_2:1946826-1946826 C>T_EEIEEEDEDDDENGEDVEDEEEEEE
19:40900205-40900205 G>A	0.0	3678	MELANOMA	-	-	-	-	PRX	uc002onq.3,p.P1213S|ENST00000324001,p.P1352S|NM_181882,p.P1352S|uc002onr.3,p.P1352S	protein_coding, processed_transcript	uc002onr.3	nonsynonymous SNV	exon7	c.C4054T	p.P1352S	QSEMVTGEGSPSPEEEEEEEEEGSG	QSEMVTGEGSPSSEEEEEEEEEGSG	3.0	7.0	unscreened	-	3678_19:40900205-40900205 G>A_QSEMVTGEGSPSSEEEEEEEEEGSG
12:7649448-7649448 A>G	0.0	3678	MELANOMA	-	-	-	-	CD163	ENST00000541972,p.Y342H|ENST00000432237,p.Y354H|NM_004244,p.Y354H|ENST00000359156,p.Y354H|NM_203416,p.Y354H|uc009zfw.2,p.Y354H|ENST00000396620,p.Y354H|uc001qta.3,p.Y354H|uc001qsz.3,p.Y354H	retained_intron, protein_coding, processed_transcript	uc009zfw.2	nonsynonymous SNV	exon5	c.T1060C	p.Y354H	IWQCKHHEWGKHYCNHNEDAGVTCS	IWQCKHHEWGKHHCNHNEDAGVTCS	7.0	4.0	unscreened	-	3678_12:7649448-7649448 A>G_IWQCKHHEWGKHHCNHNEDAGVTCS
3:130128206-130128206 G>A	0.0	3678	MELANOMA	-	-	-	-	COL6A5	uc010htj.2,p.G1506R|NM_153264,p.G1506R|ENST00000265379,p.G1506R|ENST00000432398,p.G1506R|ENST00000312481,p.G1506R|NM_001278298,p.G1506R|uc010htk.2,p.G1506R	protein_coding, nonsense_mediated_decay	uc010htk.2	nonsynonymous SNV	exon18	c.G4516A	p.G1506R	GSPGSRGAPGQYGEKGFPGDPGNPG	GSPGSRGAPGQYREKGFPGDPGNPG	2.0	4.0	unscreened	-	3678_3:130128206-130128206 G>A_GSPGSRGAPGQYREKGFPGDPGNPG
8:142487542-142487542 C>T	0.0	3678	MELANOMA	-	-	ID=COSM1455229,COSM1455230;OCCURENCE=1(large_intestine)	-	MROH5	uc003ywi.2,p.R469Q	protein_coding, polymorphic_pseudogene, nonsense_mediated_decay	uc003ywi.2	nonsynonymous SNV	exon12	c.G1406A	p.R469Q	LMEKEPQDTLCTRSRQQAMHIASSL	LMEKEPQDTLCTQSRQQAMHIASSL	1.0	6.0	unscreened	-	3678_8:142487542-142487542 C>T_LMEKEPQDTLCTQSRQQAMHIASSL
14:65260079-65260079 C>T	0.0	3678	MELANOMA	-	-	-	-	SPTB	ENST00000389722,p.G768S|uc001xht.3,p.G768S|ENST00000389721,p.G768S|uc001xhs.3,p.G768S|ENST00000556626,p.G768S|ENST00000389720,p.G768S|uc001xhr.3,p.G768S|uc001xhu.3,p.G768S|ENST00000542895,p.G768S|NM_000347,p.G768S|NM_001024858,p.G768S	retained_intron, protein_coding, processed_transcript	uc001xhu.3	nonsynonymous SNV	exon14	c.G2302A	p.G768S	KAWLQDAHRLLSGEDVGQDEGATRA	KAWLQDAHRLLSSEDVGQDEGATRA	1.0	4.0	unscreened	-	3678_14:65260079-65260079 C>T_KAWLQDAHRLLSSEDVGQDEGATRA
3:138724603-138724603 C>T	0.0	3678	MELANOMA	-	-	-	-	PRR23A	ENST00000383163,p.D170N|uc011bms.2,p.D170N|NM_001134659,p.D170N	protein_coding	uc011bms.2	nonsynonymous SNV	exon1	c.G508A	p.D170N	EDADPEFPELQMDSAAGSAAGLYSS	EDADPEFPELQMNSAAGSAAGLYSS	1.0	5.0	unscreened	-	3678_3:138724603-138724603 C>T_EDADPEFPELQMNSAAGSAAGLYSS
3:161221050-161221050 G>A	0.0	3678	MELANOMA	-	-	-	-	OTOL1	ENST00000327928,p.G252R|uc011bpb.2,p.G252R|NM_001080440,p.G252R	protein_coding	uc011bpb.2	nonsynonymous SNV	exon4	c.G754A	p.G252R	DKGCCGDSGERGGKGQKGEGGMKGE	DKGCCGDSGERGRKGQKGEGGMKGE	1.0	6.0	unscreened	-	3678_3:161221050-161221050 G>A_DKGCCGDSGERGRKGQKGEGGMKGE
19:57325337-57325337 T>A	0.0	3678	MELANOMA	-	-	-	-	PEG3	uc002qnx.2,p.E1365D|uc002qnw.2,p.E1367D|uc002qnu.2,p.E1491D|ENST00000598410,p.E1367D|ENST00000599577,p.E1491D|NM_001146187,p.E1367D|ENST00000599534,p.E1491D|uc002qnt.2,p.E1462D|uc002qnv.2,p.E1491D|NM_006210,p.E1491D|NM_001146185,p.E1365D|ENST00000593695,p.E1365D|NM_001146184,p.E1491D|uc010etr.2,p.E1491D|ENST00000423103,p.E1491D|NM_001146186,p.E1491D|ENST00000326441,p.E1491D	protein_coding, processed_transcript	uc010etr.2	nonsynonymous SNV	exon9	c.A4473T	p.E1491D	ADEPDGVGIEDPEEGEDQEIQVEEP	ADEPDGVGIEDPDEGEDQEIQVEEP	4.0	4.0	unscreened	-	3678_19:57325337-57325337 T>A_ADEPDGVGIEDPDEGEDQEIQVEEP
8:142367546-142367546 G>A	0.0	3678	MELANOMA	-	-	-	-	GPR20	uc003ywf.3,p.R160C|NM_005293,p.R160C|uc022bby.1,p.R160C|ENST00000377741,p.R160C	protein_coding	uc022bby.1	nonsynonymous SNV	exon1	c.C478T	p.R160C	RYLAIVRPEGSRRCRQPACARAVCA	RYLAIVRPEGSRCCRQPACARAVCA	1.0	5.0	unscreened	-	3678_8:142367546-142367546 G>A_RYLAIVRPEGSRCCRQPACARAVCA
17:44060828-44060828 G>A	0.0	3678	MELANOMA	-	-	-	-	MAPT	ENST00000344290,p.E220K|NM_001123066,p.E220K|ENST00000571987,p.E220K|NM_016835,p.E220K|uc010dau.3,p.E220K|uc002ijr.4,p.E220K|ENST00000262410,p.E220K|ENST00000415613,p.E220K|uc021tyx.1,p.E68K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tyx.1	nonsynonymous SNV	exon1	c.G202A	p.E68K	GKERPGSKEEVDEDRDVDESSPQDS	GKERPGSKEEVDKDRDVDESSPQDS	4.0	4.0	unscreened	-	3678_17:44060828-44060828 G>A_GKERPGSKEEVDKDRDVDESSPQDS
19:831861-831861 G>A	0.0	3678	MELANOMA	-	-	-	-	AZU1	ENST00000233997,p.G247E|NM_001700,p.G247E|uc002lpz.1,p.G247E	retained_intron, protein_coding	uc002lpz.1	nonsynonymous SNV	exon5	c.G740A	p.G247E	FRDWIDGVLNNPGPGPA	FRDWIDGVLNNPEPGPA	1.0	6.0	unscreened	-	3678_19:831861-831861 G>A_FRDWIDGVLNNPEPGPA
5:665341-665341 C>T	0.0	3678	MELANOMA	-	-	-	-	TPPP	uc003jbh.4,p.R179H|ENST00000360578,p.R179H|NM_007030,p.R179H|uc003jbg.4,p.R179H	protein_coding	uc003jbh.4	nonsynonymous SNV	exon4	c.G536A	p.R179H	TDTTKFTGSHKERFDPSGKGKGKAG	TDTTKFTGSHKEHFDPSGKGKGKAG	5.0	6.0	unscreened	-	3678_5:665341-665341 C>T_TDTTKFTGSHKEHFDPSGKGKGKAG
4:128651707-128651707 C>T	0.0	3678	MELANOMA	-	-	-	-	SLC25A31	NM_031291,p.R3C|ENST00000281154,p.R3C|uc003ifl.3,p.R3C	protein_coding	uc003ifl.3	nonsynonymous SNV	exon1	c.C7T	p.R3C	MHREPAKKKAEKRLF	MHCEPAKKKAEKRLF	1.0	3.0	unscreened	-	3678_4:128651707-128651707 C>T_MHCEPAKKKAEKRLF
19:42492654-42492654 C>T	0.0	3678	MELANOMA	-	-	-	-	ATP1A3	ENST00000545399,p.D36N|ENST00000441343,p.D23N|NM_001256214,p.D36N|uc002osh.4,p.D23N|ENST00000302102,p.D23N|NM_001256213,p.D34N|uc010xwf.2,p.D34N|ENST00000543770,p.D34N|uc002osg.4,p.D23N|uc010xwh.3,p.D36N|NM_152296,p.D23N	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc010xwh.3	nonsynonymous SNV	exon2	c.G106A	p.D36N	PKKNKGKERRDLDDLKKEVAMTEHK	PKKNKGKERRDLNDLKKEVAMTEHK	3.0	6.0	unscreened	-	3678_19:42492654-42492654 C>T_PKKNKGKERRDLNDLKKEVAMTEHK
18:61627430-61627430 G>A	0.0	3678	MELANOMA	-	-	-	-	HMSD	ENST00000526932,p.R53Q	protein_coding, processed_transcript	ENST00000526932	nonsynonymous SNV	exon2	c.G158A	p.R53Q	VLQIPVANSTKQR	VLQIPVANSTKQQ	1.0	6.0	unscreened	-	3678_18:61627430-61627430 G>A_VLQIPVANSTKQQ
3:42597481-42597481 G>A	1.0	3713	MELANOMA	-	-	-	-	SEC22C	ENST00000264454,p.H218Y|ENST00000417572,p.H218Y|NM_032970,p.H218Y|uc003cli.3,p.H218Y|uc011azo.2,p.H148Y|uc003clj.3,p.H218Y|NM_004206,p.H218Y|ENST00000456515,p.H218Y|ENST00000536332,p.H148Y|NM_001201572,p.H218Y|ENST00000273156,p.H218Y|uc003clh.3,p.H218Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011azo.2	nonsynonymous SNV	exon7	c.C442T	p.H148Y	GVHLAEHSLQVAHEEIGNILAFLVP	GVHLAEHSLQVAYEEIGNILAFLVP	9.0	8.0	CD8	-	3713_3:42597481-42597481 G>A_GVHLAEHSLQVAYEEIGNILAFLVP
11:62288510-62288510 G>A	1.0	3713	MELANOMA	-	-	-	-	AHNAK	uc001ntl.3,p.S4460F|ENST00000378024,p.S4460F|NM_001620,p.S4460F	protein_coding, processed_transcript	uc001ntl.3	nonsynonymous SNV	exon5	c.C13379T	p.S4460F	KMPEMNIKAPKISMPDFDLHLKGPK	KMPEMNIKAPKIFMPDFDLHLKGPK	10.0	10.0	CD8	-	3713_11:62288510-62288510 G>A_KMPEMNIKAPKIFMPDFDLHLKGPK
X:38033598-38033598 G>A	1.0	3713	MELANOMA	-	-	-	-	SRPX	NM_001170750,p.P35L|uc004ddz.2,p.P35L|ENST00000544439,p.P35L	protein_coding, processed_transcript	uc004ddz.2	nonsynonymous SNV	exon2	c.C104T	p.P35L	LRVPPSRSFPDTPWCSPIKVKYGDV	LRVPPSRSFPDTLWCSPIKVKYGDV	10.0	10.0	unscreened	-	3713_X:38033598-38033598 G>A_LRVPPSRSFPDTLWCSPIKVKYGDV
1:173776589-173776589 G>A	1.0	3713	MELANOMA	-	-	-	-	CENPL	NM_033319,p.P79L|ENST00000345664,p.P79L|ENST00000356198,p.P79L|NM_001127181,p.P79L|NM_001171182,p.P79L|uc001gje.4,p.P79L|ENST00000367710,p.P79L|uc001gjg.4,p.P79L|uc001gjf.4,p.P79L	protein_coding, processed_transcript	uc001gjg.4	nonsynonymous SNV	exon4	c.C236T	p.P79L	LLHKQWTLYSLTPLYKFSYSNLKEY	LLHKQWTLYSLTLLYKFSYSNLKEY	5.0	8.0	CD8	-	3713_1:173776589-173776589 G>A_LLHKQWTLYSLTLLYKFSYSNLKEY
20:62198871-62198871 C>T	1.0	3713	MELANOMA	-	-	ID=COSM1615869;OCCURENCE=2(liver)	-	HELZ2	ENST00000467148,p.D614N|ENST00000427522,p.D45N|NM_033405,p.D45N|uc002yfl.1,p.D45N|NM_001037335,p.D614N|uc002yfm.2,p.D614N	retained_intron, protein_coding, processed_transcript	uc002yfm.2	nonsynonymous SNV	exon7	c.G1840A	p.D614N	RVMYTDRPLSQTDPVTLQYCCLTDD	RVMYTDRPLSQTNPVTLQYCCLTDD	8.0	7.0	CD8	-	3713_20:62198871-62198871 C>T_RVMYTDRPLSQTNPVTLQYCCLTDD
1:1198734-1198734 G>A	1.0	3713	MELANOMA	-	-	-	-	UBE2J2	ENST00000477894,p.P55L|ENST00000464036,p.P55L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000477894	nonsynonymous SNV	exon3	c.C164T	p.P55L	EWHYVVRGPEMTPYEGIPVLDHLQL	EWHYVVRGPEMTLYEGIPVLDHLQL	9.0	10.0	unscreened	-	3713_1:1198734-1198734 G>A_EWHYVVRGPEMTLYEGIPVLDHLQL
12:120599720-120599720 G>A	1.0	3713	MELANOMA	-	-	-	-	GCN1L1	ENST00000300648,p.P769L|uc001txo.3,p.P769L|NM_006836,p.P769L	retained_intron, protein_coding	uc001txo.3	nonsynonymous SNV	exon21	c.C2306T	p.P769L	LVTREEFAIMQTPAGELYDKSIIQS	LVTREEFAIMQTLAGELYDKSIIQS	6.0	4.0	CD8	-	3713_12:120599720-120599720 G>A_LVTREEFAIMQTLAGELYDKSIIQS
10:120933972-120933972 G>A	1.0	3713	MELANOMA	-	-	-	-	PRDX3	uc021pzp.1,p.P83L|NM_014098,p.P83L|uc001lec.3,p.P101L|ENST00000356951,p.P83L|NM_006793,p.P101L|ENST00000298510,p.P101L	protein_coding, processed_transcript	uc021pzp.1	nonsynonymous SNV	exon3	c.C248T	p.P83L	DFKGKYLVLFFYPLDFTFVCPTEIV	DFKGKYLVLFFYLLDFTFVCPTEIV	8.0	9.0	CD8	-	3713_10:120933972-120933972 G>A_DFKGKYLVLFFYLLDFTFVCPTEIV
X:38033598-38033598 G>A	1.0	3713	MELANOMA	-	-	-	-	SRPX	ENST00000343800,p.P42L	protein_coding, processed_transcript	ENST00000343800	nonsynonymous SNV	exon2	c.C125T	p.P42L	RRCLIGESGHDTPWCSPIKVKYGDV	RRCLIGESGHDTLWCSPIKVKYGDV	10.0	10.0	unscreened	-	3713_X:38033598-38033598 G>A_RRCLIGESGHDTLWCSPIKVKYGDV
X:38033598-38033598 G>A	1.0	3713	MELANOMA	-	-	-	-	SRPX	NM_001170751,p.P55L|uc011mkh.2,p.P55L|ENST00000538295,p.P55L|ENST00000378533,p.P55L|NM_006307,p.P55L|uc004ddy.2,p.P55L|NM_001170752,p.P55L|ENST00000432886,p.P55L|uc011mki.2,p.P55L	protein_coding, processed_transcript	uc011mki.2	nonsynonymous SNV	exon3	c.C164T	p.P55L	EVGYSHPRYKDTPWCSPIKVKYGDV	EVGYSHPRYKDTLWCSPIKVKYGDV	10.0	10.0	CD8	-	3713_X:38033598-38033598 G>A_EVGYSHPRYKDTLWCSPIKVKYGDV
17:76198784-76198784 C>T	1.0	3713	MELANOMA	-	-	-	-	AFMID	ENST00000588800,p.A52V|uc002jvb.3,p.A52V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jvb.3	nonsynonymous SNV	exon3	c.C155T	p.A52V	EALRTYSQIGIEALPFFLFFHGGYW	EALRTYSQIGIEVLPFFLFFHGGYW	9.0	6.0	CD8	-	3713_17:76198784-76198784 C>T_EALRTYSQIGIEVLPFFLFFHGGYW
17:76198784-76198784 C>T	1.0	3713	MELANOMA	-	-	-	-	AFMID	uc002jva.3,p.A87V|NM_001145526,p.A87V|ENST00000409257,p.A87V|ENST00000588199,p.A87V|NM_001010982,p.A87V|uc002juz.3,p.A87V|uc010dhj.3,p.A87V|ENST00000327898,p.A87V|ENST00000591256,p.A87V|ENST00000586542,p.A87V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dhj.3	nonsynonymous SNV	exon4	c.C260T	p.A87V	KVDIYFPDESSEALPFFLFFHGGYW	KVDIYFPDESSEVLPFFLFFHGGYW	9.0	6.0	unscreened	-	3713_17:76198784-76198784 C>T_KVDIYFPDESSEVLPFFLFFHGGYW
1:182845267-182845267 C>T	1.0	3713	MELANOMA	-	-	-	-	DHX9	uc001gps.3,p.P419L|uc001gpr.3,p.P633L|ENST00000367549,p.P633L|NM_001357,p.P633L	protein_coding, processed_transcript	uc001gps.3	nonsynonymous SNV	exon18	c.C1256T	p.P419L	RLSMSQLNEKETPFELIEALLKYIE	RLSMSQLNEKETLFELIEALLKYIE	9.0	5.0	unscreened	-	3713_1:182845267-182845267 C>T_RLSMSQLNEKETLFELIEALLKYIE
20:30371683-30371683 C>T	1.0	3713	MELANOMA	-	-	-	-	TPX2	uc002wwp.1,p.H458Y|ENST00000300403,p.H458Y|uc010gdv.1,p.H494Y|ENST00000340513,p.H494Y|NM_012112,p.H458Y	protein_coding	uc010gdv.1	nonsynonymous SNV	exon13	c.C1480T	p.H494Y	SKKKTEDEHFEFHSRPCPTKILEDV	SKKKTEDEHFEFYSRPCPTKILEDV	7.0	6.0	CD8	-	3713_20:30371683-30371683 C>T_SKKKTEDEHFEFYSRPCPTKILEDV
6:33254984-33254984 G>A	1.0	3713	MELANOMA	-	-	-	-	WDR46	uc011dra.2,p.T246I|uc003ods.3,p.T300I|NM_005452,p.T300I|ENST00000444176,p.T227I|ENST00000374617,p.T300I|NM_001164267,p.T246I	retained_intron, protein_coding, processed_transcript	uc011dra.2	nonsynonymous SNV	exon9	c.C737T	p.T246I	FLLATASETGFLTYLDVSVGKIVAA	FLLATASETGFLIYLDVSVGKIVAA	8.0	3.0	CD8	-	3713_6:33254984-33254984 G>A_FLLATASETGFLIYLDVSVGKIVAA
22:29956729-29956729 G>A	1.0	3713	MELANOMA	-	-	-	-	NIPSNAP1	uc003afx.4,p.L234F|NM_001202502,p.L214F|NM_003634,p.L234F|ENST00000216121,p.L234F|uc011akp.2,p.L214F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011akp.2	nonsynonymous SNV	exon8	c.C640T	p.L214F	FSQIGELYVVHHLWAYKDLQSREET	FSQIGELYVVHHFWAYKDLQSREET	9.0	8.0	-	-	3713_22:29956729-29956729 G>A_FSQIGELYVVHHFWAYKDLQSREET
8:144886949-144886949 G>A	1.0	3713	MELANOMA	-	-	-	-	SCRIB	NM_015356,p.S933F|uc003yzo.1,p.S933F|uc003yzp.1,p.S933F|ENST00000377533,p.S852F|ENST00000356994,p.S933F|NM_182706,p.S933F|ENST00000320476,p.S933F	retained_intron, protein_coding, processed_transcript	uc003yzp.1	nonsynonymous SNV	exon21	c.C2798T	p.S933F	VDVTEARHDHAVSLLTAASPTIALL	VDVTEARHDHAVFLLTAASPTIALL	9.0	8.0	-	-	3713_8:144886949-144886949 G>A_VDVTEARHDHAVFLLTAASPTIALL
12:56998406-56998406 G>A	1.0	3713	MELANOMA	-	-	-	-	BAZ2A	NM_013449,p.L978F|ENST00000379441,p.L948F|uc001slp.1,p.L976F|NM_001300905,p.L976F|uc001slq.1,p.L978F|uc009zow.1,p.L946F|ENST00000549884,p.L976F|ENST00000179765,p.L946F|ENST00000551812,p.L978F	retained_intron, protein_coding, processed_transcript	uc009zow.1	nonsynonymous SNV	exon15	c.C2836T	p.L946F	QPPQQKAAVLAFLVHELNGSTLIIN	QPPQQKAAVLAFFVHELNGSTLIIN	9.0	5.0	-	-	3713_12:56998406-56998406 G>A_QPPQQKAAVLAFFVHELNGSTLIIN
3:48309639-48309639 C>T	1.0	3713	MELANOMA	-	-	-	-	ZNF589	uc011bbg.2,p.P152L|ENST00000440261,p.P152L	protein_coding, processed_transcript, nonsense_mediated_decay	uc011bbg.2	nonsynonymous SNV	exon4	c.C455T	p.P152L	EAEDQRVEGGVRPLFWILELGSPRS	EAEDQRVEGGVRLLFWILELGSPRS	9.0	6.0	unscreened	-	3713_3:48309639-48309639 C>T_EAEDQRVEGGVRLLFWILELGSPRS
6:43155493-43155493 G>A	1.0	3713	MELANOMA	-	-	-	-	CUL9	uc003ouk.3,p.E542K|NM_015089,p.E542K|uc003oul.3,p.E542K|ENST00000252050,p.E542K|uc003ouj.1,p.E432K|ENST00000372647,p.E542K|ENST00000354495,p.E432K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003oul.3	nonsynonymous SNV	exon7	c.G1624A	p.E542K	GEKALGEISVSVEMAESLLQVLSSR	GEKALGEISVSVKMAESLLQVLSSR	8.0	9.0	-	-	3713_6:43155493-43155493 G>A_GEKALGEISVSVKMAESLLQVLSSR
16:2160234-2160234 G>A	1.0	3713	MELANOMA	-	-	-	-	PKD1	ENST00000423118,p.P1645L|NM_000296,p.P1645L|ENST00000262304,p.P1645L|NM_001009944,p.P1645L|uc002cos.1,p.P1645L|uc002cot.1,p.P1645L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002cot.1	nonsynonymous SNV	exon15	c.C4934T	p.P1645L	EGLQVVGGGRYFPTNHTVQLQAVVR	EGLQVVGGGRYFLTNHTVQLQAVVR	10.0	1.0	unscreened	-	3713_16:2160234-2160234 G>A_EGLQVVGGGRYFLTNHTVQLQAVVR
3:53263106-53263106 G>A	1.0	3713	MELANOMA	-	-	-	-	TKT	NM_001064,p.R438W|uc003dgp.2,p.R70W|uc003dgo.3,p.R438W|ENST00000462138,p.R438W|uc003dgq.3,p.R438W|ENST00000423525,p.R438W|uc011beo.1,p.R391W|NM_001258028,p.R446W|NM_001135055,p.R438W|ENST00000296289,p.R391W|uc011beq.2,p.R446W|uc011ber.2,p.R240W|ENST00000423516,p.R446W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ber.2	nonsynonymous SNV	exon10	c.C718T	p.R240W	PSQMALEDLAMFRSVPTSTVFYPSD	PSQMALEDLAMFWSVPTSTVFYPSD	9.0	2.0	-	-	3713_3:53263106-53263106 G>A_PSQMALEDLAMFWSVPTSTVFYPSD
12:123046483-123046483 G>A	1.0	3713	MELANOMA	-	-	-	-	KNTC1	uc001ucv.3,p.D502N|ENST00000450485,p.D465N|ENST00000333479,p.D502N|NM_014708,p.D502N|uc010taf.2,p.D465N	retained_intron, protein_coding, processed_transcript	uc010taf.2	nonsynonymous SNV	exon18	c.G1393A	p.D465N	LNYAKTRLLKKEDKTALIYSDGLKE	LNYAKTRLLKKENKTALIYSDGLKE	8.0	9.0	-	-	3713_12:123046483-123046483 G>A_LNYAKTRLLKKENKTALIYSDGLKE
18:20562258-20562258 C>T	1.0	3713	MELANOMA	-	-	-	-	RBBP8	uc002kty.3,p.S169L|NM_002894,p.S169L|ENST00000399725,p.S169L|ENST00000399722,p.S169L|ENST00000582354,p.S169L|uc002ktz.3,p.S169L|uc002kua.3,p.S169L|ENST00000360790,p.S169L|ENST00000327155,p.S169L|uc002ktw.3,p.S169L|NM_203292,p.S169L|uc002ktx.1,p.S169L|NM_203291,p.S169L|ENST00000399721,p.S169L	retained_intron, protein_coding, processed_transcript	uc002kua.3	nonsynonymous SNV	exon7	c.C506T	p.S169L	EDVIPDSPITAFSFSGVNRLRRKEN	EDVIPDSPITAFLFSGVNRLRRKEN	8.0	5.0	-	-	3713_18:20562258-20562258 C>T_EDVIPDSPITAFLFSGVNRLRRKEN
15:78789516-78789516 C>T	1.0	3713	MELANOMA	-	-	-	-	IREB2	ENST00000258886,p.H882Y|uc002bdr.2,p.H882Y|NM_004136,p.H882Y|uc010unb.1,p.H632Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010unb.1	nonsynonymous SNV	exon20	c.C1894T	p.H632Y	VLAESYEKIHKDHLIGIGIAPLQFL	VLAESYEKIHKDYLIGIGIAPLQFL	7.0	2.0	unscreened	-	3713_15:78789516-78789516 C>T_VLAESYEKIHKDYLIGIGIAPLQFL
1:11288763-11288763 G>A	1.0	3713	MELANOMA	-	-	-	1	MTOR	uc001asd.3,p.L998F|NM_004958,p.L998F|ENST00000361445,p.L998F	protein_coding, processed_transcript	uc001asd.3	nonsynonymous SNV	exon19	c.C2992T	p.L998F	CVQFLPQVMPTFLNVIRVCDGAIRE	CVQFLPQVMPTFFNVIRVCDGAIRE	8.0	8.0	-	-	3713_1:11288763-11288763 G>A_CVQFLPQVMPTFFNVIRVCDGAIRE
17:73599360-73599360 C>T	1.0	3713	MELANOMA	-	-	-	-	MYO15B	uc002jon.1,p.P513L|ENST00000583560,p.P111L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jon.1	nonsynonymous SNV	exon16	c.C1538T	p.P513L	ILEAVGTRSANFPVRVPFEAFLASF	ILEAVGTRSANFLVRVPFEAFLASF	7.0	10.0	unscreened	-	3713_17:73599360-73599360 C>T_ILEAVGTRSANFLVRVPFEAFLASF
19:6733003-6733003 G>A	1.0	3713	MELANOMA	-	-	-	-	GPR108	ENST00000430424,p.H68Y|NM_001080452,p.H310Y|uc002mfp.3,p.H310Y|ENST00000264080,p.H310Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mfp.3	nonsynonymous SNV	exon10	c.C928T	p.H310Y	ALAFTKSISLLFHSINYYFINSQGH	ALAFTKSISLLFYSINYYFINSQGH	8.0	8.0	-	-	3713_19:6733003-6733003 G>A_ALAFTKSISLLFYSINYYFINSQGH
11:66372873-66372873 G>T	1.0	3713	MELANOMA	-	-	-	-	CCS	ENST00000533244,p.D185Y|ENST00000310190,p.D166Y|NM_005125,p.D185Y|uc001oir.3,p.D185Y	retained_intron, protein_coding, nonsense_mediated_decay	uc001oir.3	nonsynonymous SNV	exon6	c.G553T	p.D185Y	ADADGRAIFRMEDEQLKVWDVIGRS	ADADGRAIFRMEYEQLKVWDVIGRS	9.0	10.0	-	-	3713_11:66372873-66372873 G>T_ADADGRAIFRMEYEQLKVWDVIGRS
12:69127364-69127364 G>A	1.0	3713	MELANOMA	-	-	-	-	NUP107	uc001suf.3,p.R745Q|NM_020401,p.R745Q|uc010stj.2,p.R716Q|ENST00000539906,p.R716Q|ENST00000378905,p.R506Q|uc001sug.3,p.R504Q|ENST00000229179,p.R745Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010stj.2	nonsynonymous SNV	exon24	c.G2147A	p.R716Q	ESPLPAEDDNAIREHLCIRAYLEAH	ESPLPAEDDNAIQEHLCIRAYLEAH	7.0	4.0	-	-	3713_12:69127364-69127364 G>A_ESPLPAEDDNAIQEHLCIRAYLEAH
12:46231410-46231410 C>T	1.0	3713	MELANOMA	-	-	-	1	ARID2	NM_152641,p.S417L|uc001ros.1,p.S417L|ENST00000334344,p.S417L|uc009zkh.1,p.S63L|uc001rot.1,p.S63L|uc001ror.3,p.S417L|ENST00000422737,p.S268L|ENST00000444670,p.S46L	retained_intron, protein_coding, processed_transcript	uc009zkh.1	nonsynonymous SNV	exon2	c.C188T	p.S63L	CHLTLPDVLLVISTLEVLYMLTEMG	CHLTLPDVLLVILTLEVLYMLTEMG	6.0	5.0	-	-	3713_12:46231410-46231410 C>T_CHLTLPDVLLVILTLEVLYMLTEMG
6:149700528-149700528 C>T	1.0	3713	MELANOMA	-	-	-	-	TAB2	ENST00000470466,p.H493Y|NM_001292034,p.H493Y|ENST00000538427,p.H493Y|ENST00000536230,p.H461Y|ENST00000367456,p.H493Y|uc010kia.1,p.H493Y|uc011eec.2,p.H461Y|uc003qmj.3,p.H493Y|NM_015093,p.H493Y|NM_001292035,p.H461Y|ENST00000392282,p.H493Y|ENST00000286332,p.H493Y|uc010kib.2,p.H493Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc011eec.2	nonsynonymous SNV	exon2	c.C1381T	p.H461Y	VSPTFELTNLLNHPDHYVETENIQH	VSPTFELTNLLNYPDHYVETENIQH	9.0	7.0	-	-	3713_6:149700528-149700528 C>T_VSPTFELTNLLNYPDHYVETENIQH
17:73599360-73599360 C>T	1.0	3713	MELANOMA	-	-	-	-	MYO15B	uc002joq.4,p.P93L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002joq.4	nonsynonymous SNV	exon4	c.C278T	p.P93L	ILEAVGTRSANFPVRVPFEAFLARW	ILEAVGTRSANFLVRVPFEAFLARW	7.0	10.0	unscreened	-	3713_17:73599360-73599360 C>T_ILEAVGTRSANFLVRVPFEAFLARW
1:151384205-151384205 G>A	1.0	3713	MELANOMA	-	-	-	-	POGZ	uc021oyq.1,p.H555Y|uc010pdc.2,p.H546Y|uc001eyf.2,p.H564Y|NM_001194938,p.H546Y|ENST00000409503,p.H599Y|ENST00000392723,p.H555Y|uc001eyd.2,p.H608Y|ENST00000491586,p.H564Y|uc010pdd.2,p.H99Y|ENST00000368863,p.H513Y|ENST00000361398,p.H555Y|NM_207171,p.H555Y|NM_015100,p.H608Y|NM_001194937,p.H599Y|uc010pdb.2,p.H599Y|NM_145796,p.H513Y|ENST00000531094,p.H546Y|uc009wmv.2,p.H513Y|ENST00000271715,p.H608Y	retained_intron, protein_coding, nonsense_mediated_decay	uc021oyq.1	nonsynonymous SNV	exon10	c.C1663T	p.H555Y	QYRSSLYSEVDVHFRMIHEDTRHLL	QYRSSLYSEVDVYFRMIHEDTRHLL	10.0	8.0	-	-	3713_1:151384205-151384205 G>A_QYRSSLYSEVDVYFRMIHEDTRHLL
4:48545867-48545867 G>A	1.0	3713	MELANOMA	-	-	-	-	FRYL	ENST00000537810,p.S1850F|NM_015030,p.S1850F|ENST00000503238,p.S1850F|uc003gyg.1,p.S546F|uc003gyj.1,p.S145F|ENST00000358350,p.S1850F|uc003gyi.1,p.S738F|uc003gyh.1,p.S1850F	retained_intron, protein_coding, processed_transcript	uc003gyj.1	nonsynonymous SNV	exon3	c.C434T	p.S145F	QPLTATTLSDVLSRLVETVGDPGED	QPLTATTLSDVLFRLVETVGDPGED	7.0	3.0	-	-	3713_4:48545867-48545867 G>A_QPLTATTLSDVLFRLVETVGDPGED
6:31604700-31604700 C>T	1.0	3713	MELANOMA	-	-	-	-	PRRC2A	NM_080686,p.P2042L|NM_004638,p.P2042L|uc003nvb.4,p.P2042L|uc003nvc.4,p.P2042L|ENST00000376033,p.P2042L|ENST00000376007,p.P2042L	retained_intron, protein_coding, processed_transcript	uc003nvc.4	nonsynonymous SNV	exon28	c.C6125T	p.P2042L	ATRVLPSPARPFPASLGRAELHPVE	ATRVLPSPARPFLASLGRAELHPVE	10.0	3.0	-	-	3713_6:31604700-31604700 C>T_ATRVLPSPARPFLASLGRAELHPVE
3:52620556-52620556 G>-	1.0	3713	MELANOMA	-	-	-	1	PBRM1	uc003dfa.1,p.P437fs	retained_intron, protein_coding, nonsense_mediated_decay	uc003dfa.1	frameshift deletion	exon5	c.1310delC	p.P437fs	PISSVRFVPRDVPLPVVRVASVFAN	PISSVRFVPRDVLCLWFAWPLYLQMQIKVMMRRIQTTQRTVELKTILTWKRYAD	8.0	7.0	unscreened	-	3713_3:52620556-52620556 G>-_PISSVRFVPRDVLCLWFAWPLYLQMQIKVMMRRIQTTQRTVELKTILTWKRYAD
1:171526902-171526902 C>T	1.0	3713	MELANOMA	-	-	-	-	PRRC2C	ENST00000426496,p.S1882F|uc010pmg.2,p.S1882F|ENST00000392078,p.S1884F|ENST00000367742,p.S1884F|NM_015172,p.S1882F|uc010pmh.2,p.S859F|ENST00000338920,p.S1882F	retained_intron, protein_coding, processed_transcript	uc010pmh.2	nonsynonymous SNV	exon4	c.C2576T	p.S859F	STSAPTPAPAASSPAAPVITAPTIP	STSAPTPAPAASFPAAPVITAPTIP	9.0	1.0	unscreened	-	3713_1:171526902-171526902 C>T_STSAPTPAPAASFPAAPVITAPTIP
6:10557336-10557336 C>T	1.0	3713	MELANOMA	-	-	-	-	GCNT2	uc003mzd.3,p.T227I|ENST00000316170,p.T227I|NM_001491,p.T227I	retained_intron, protein_coding, processed_transcript	uc003mzd.3	nonsynonymous SNV	exon1	c.C680T	p.T227I	PGVLPPAHAIGRTKYVHQEHLGKEL	PGVLPPAHAIGRIKYVHQEHLGKEL	9.0	7.0	-	-	3713_6:10557336-10557336 C>T_PGVLPPAHAIGRIKYVHQEHLGKEL
3:52620556-52620556 G>-	1.0	3713	MELANOMA	-	-	-	1	PBRM1	uc003deu.2,p.P1106fs|ENST00000409114,p.P1106fs|uc003deq.2,p.P1091fs|uc003dez.1,p.P1090fs|uc003der.2,p.P1059fs|ENST00000394830,p.P1066fs|ENST00000410007,p.P1066fs|uc010hmk.1,p.P1066fs|uc003dew.2,p.P1091fs|ENST00000423351,p.P1090fs|uc003des.2,p.P1091fs|ENST00000409767,p.P1106fs|ENST00000337303,p.P1091fs|ENST00000296302,p.P1091fs|ENST00000409057,p.P1091fs|NM_018313,p.P1066fs|uc003det.2,p.P1106fs|ENST00000356770,p.P1059fs|uc003dey.2,p.P1066fs	retained_intron, protein_coding, nonsense_mediated_decay	uc010hmk.1	frameshift deletion	exon20	c.3197delC	p.P1066fs	PISSVRFVPRDVPLPVVRVASVFAN	PISSVRFVPRDVLCLWFAWPLYLQMQIKVMMRRIQTTQRTVELKTILTWKRKKKMSLWKCPMVNQVATTLSSSITMTCG	8.0	7.0	unscreened	-	3713_3:52620556-52620556 G>-_PISSVRFVPRDVLCLWFAWPLYLQMQIKVMMRRIQTTQRTVELKTILTWKRKKKMSLWKCPMVNQVATTLSSSITMTCG
7:92730681-92730681 G>A	1.0	3713	MELANOMA	-	-	-	-	SAMD9	NM_017654,p.S1577F|uc022ahg.1,p.S1577F|ENST00000379958,p.S1577F|uc003umf.3,p.S1577F|uc003umg.3,p.S1577F|NM_001193307,p.S1577F	protein_coding	uc022ahg.1	nonsynonymous SNV	exon1	c.C4730T	p.S1577F	RSIEKVSFYLGFSIGGPLAYDIEIV	RSIEKVSFYLGFFIGGPLAYDIEIV	7.0	6.0	-	-	3713_7:92730681-92730681 G>A_RSIEKVSFYLGFFIGGPLAYDIEIV
17:77918784-77918784 G>A	1.0	3713	MELANOMA	-	-	-	-	TBC1D16	uc002jxk.2,p.L249F|ENST00000570373,p.L250F|ENST00000340848,p.L249F|NM_019020,p.L611F|uc002jxg.2,p.L249F|ENST00000572862,p.L249F|ENST00000576768,p.L236F|ENST00000310924,p.L611F|uc002jxj.4,p.L611F|NM_001271845,p.L249F|NM_001271846,p.L249F|NM_001271844,p.L236F|uc002jxi.4,p.L236F	protein_coding, processed_transcript	uc002jxk.2	nonsynonymous SNV	exon6	c.C745T	p.L249F	EDGLQMLFCHRWLLLCFKREFPEAE	EDGLQMLFCHRWFLLCFKREFPEAE	8.0	10.0	unscreened	-	3713_17:77918784-77918784 G>A_EDGLQMLFCHRWFLLCFKREFPEAE
3:5249937-5249937 C>T	1.0	3713	MELANOMA	-	-	-	-	EDEM1	ENST00000445686,p.L305F|uc021wsl.1,p.L305F|uc003bqi.3,p.L500F|NM_014674,p.L500F|ENST00000256497,p.L500F	retained_intron, protein_coding, nonsense_mediated_decay	uc021wsl.1	nonsynonymous SNV	exon8	c.C913T	p.L305F	YPLRPELVESTYLLYQATKNPFYLH	YPLRPELVESTYFLYQATKNPFYLH	8.0	6.0	-	-	3713_3:5249937-5249937 C>T_YPLRPELVESTYFLYQATKNPFYLH
11:6243829-6243829 T>C	1.0	3713	MELANOMA	-	-	-	-	FAM160A2	ENST00000524416,p.E345G|uc001mck.4,p.E345G|uc001mcm.2,p.E345G|ENST00000265978,p.E345G|ENST00000449352,p.E345G|NM_001098794,p.E345G|NM_032127,p.E345G|uc001mcl.4,p.E345G	protein_coding, processed_transcript	uc001mcm.2	nonsynonymous SNV	exon6	c.A1034G	p.E345G	PVMGPALHKTSVEEMIASTAYLELF	PVMGPALHKTSVGEMIASTAYLELF	8.0	10.0	-	-	3713_11:6243829-6243829 T>C_PVMGPALHKTSVGEMIASTAYLELF
9:140082339-140082339 G>A	1.0	3713	MELANOMA	-	-	-	-	ANAPC2	uc011mer.1,p.L112F|ENST00000323927,p.L112F|NM_013366,p.L112F|uc004clr.1,p.L112F	protein_coding, processed_transcript	uc011mer.1	nonsynonymous SNV	exon2	c.C334T	p.L112F	NSADEPQCLLLLLDAFGLLESRLDP	NSADEPQCLLLLFDAFGLLESRLDP	7.0	8.0	-	-	3713_9:140082339-140082339 G>A_NSADEPQCLLLLFDAFGLLESRLDP
1:172411510-172411510 G>A	1.0	3713	MELANOMA	-	-	-	-	PIGC	uc021pey.1,p.L85F|uc001gin.3,p.L85F|ENST00000258324,p.L85F|NM_002642,p.L85F|NM_153747,p.L85F|ENST00000344529,p.L85F|uc001gio.3,p.L85F|ENST00000367728,p.L85F	protein_coding, processed_transcript	uc021pey.1	nonsynonymous SNV	exon1	c.C253T	p.L85F	WYMDEGLLAPHWLLGTGLASSLIGY	WYMDEGLLAPHWFLGTGLASSLIGY	8.0	4.0	unscreened	-	3713_1:172411510-172411510 G>A_WYMDEGLLAPHWFLGTGLASSLIGY
3:171944703-171944703 C>T	1.0	3713	MELANOMA	-	-	-	-	FNDC3B	ENST00000443501,p.P50L|uc003fhz.4,p.P77L|ENST00000416957,p.P77L|ENST00000336824,p.P77L|ENST00000415807,p.P77L|NM_001135095,p.P77L|NM_022763,p.P77L|uc003fhy.3,p.P77L	retained_intron, protein_coding, processed_transcript	uc003fhz.4	nonsynonymous SNV	exon4	c.C230T	p.P77L	AEVPMMSPNGSIPPIHVPPGYISQV	AEVPMMSPNGSILPIHVPPGYISQV	7.0	7.0	-	-	3713_3:171944703-171944703 C>T_AEVPMMSPNGSILPIHVPPGYISQV
17:8167810-8167810 C>T	1.0	3713	MELANOMA	-	-	-	-	PFAS	ENST00000545834,p.P223L|ENST00000314666,p.P647L|NM_012393,p.P647L|uc002gkr.3,p.P647L|uc010vuv.2,p.P223L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vuv.2	nonsynonymous SNV	exon15	c.C668T	p.P223L	KMPRKEFFLQRKPPMLQPLALPPGL	KMPRKEFFLQRKLPMLQPLALPPGL	6.0	9.0	-	-	3713_17:8167810-8167810 C>T_KMPRKEFFLQRKLPMLQPLALPPGL
16:3165842-3165842 C>T	1.0	3713	MELANOMA	-	-	-	-	ZNF205	ENST00000414351,p.P95L|ENST00000444510,p.P95L|NM_003456,p.P95L|NM_001278158,p.P95L|uc031quw.1,p.P95L|uc002cua.3,p.P95L|ENST00000382192,p.P95L|NM_001042428,p.P95L|uc002cub.3,p.P95L|ENST00000219091,p.P95L	protein_coding	uc031quw.1	nonsynonymous SNV	exon4	c.C284T	p.P95L	KALFLPGGALPSPRIPVLSREGRTR	KALFLPGGALPSLRIPVLSREGRTR	5.0	8.0	-	-	3713_16:3165842-3165842 C>T_KALFLPGGALPSLRIPVLSREGRTR
17:5434020-5434020 G>A	1.0	3713	MELANOMA	-	-	-	-	NLRP1	ENST00000544378,p.H1105Y|uc002gch.4,p.H1101Y|uc002gcl.3,p.H1071Y|uc002gck.3,p.H1101Y|uc002gcj.3,p.H1071Y|ENST00000572272,p.H1101Y|ENST00000354411,p.H1071Y|uc010clh.3,p.H1101Y|NM_033007,p.H1071Y|ENST00000345221,p.H1101Y|ENST00000269280,p.H1101Y|ENST00000262467,p.H1105Y|NM_033006,p.H1071Y|NM_033004,p.H1101Y|NM_001033053,p.H1105Y|uc002gci.3,p.H1101Y|ENST00000577119,p.H1071Y|uc002gcg.1,p.H1105Y|NM_014922,p.H1101Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010clh.3	nonsynonymous SNV	exon13	c.C3301T	p.H1101Y	EVVDKEKNLYRVHFPVAGSYRWPNT	EVVDKEKNLYRVYFPVAGSYRWPNT	7.0	5.0	-	-	3713_17:5434020-5434020 G>A_EVVDKEKNLYRVYFPVAGSYRWPNT
15:64458266-64458266 G>A	1.0	3713	MELANOMA	-	-	-	-	CSNK1G1	uc002anh.1,p.H447Y|uc002ang.1,p.H410Y|ENST00000607537,p.H447Y	protein_coding	uc002anh.1	nonsynonymous SNV	exon13	c.C1339T	p.H447Y	VEVVEEAKCIMFHKPWHWSQSSAVK	VEVVEEAKCIMFYKPWHWSQSSAVK	5.0	6.0	unscreened	-	3713_15:64458266-64458266 G>A_VEVVEEAKCIMFYKPWHWSQSSAVK
21:38441891-38441891 G>A	1.0	3713	MELANOMA	-	-	-	-	PIGP	uc002yvw.1,p.S63F|uc002yvx.1,p.S39F|NM_153682,p.S39F|NM_153681,p.S63F|ENST00000399102,p.S39F|ENST00000399103,p.S39F|ENST00000360525,p.S39F|ENST00000464265,p.S63F	retained_intron, protein_coding, processed_transcript	uc002yvx.1	nonsynonymous SNV	exon3	c.C116T	p.S39F	FILYLVWAFIPESWLNSLGLTYWPQ	FILYLVWAFIPEFWLNSLGLTYWPQ	7.0	8.0	-	-	3713_21:38441891-38441891 G>A_FILYLVWAFIPEFWLNSLGLTYWPQ
21:38441891-38441891 G>A	1.0	3713	MELANOMA	-	-	-	-	PIGP	uc002yvy.2,p.S13F|ENST00000399098,p.S13F|ENST00000430792,p.S13F	retained_intron, protein_coding, processed_transcript	uc002yvy.2	nonsynonymous SNV	exon4	c.C38T	p.S13F	MVLYLVWAFIPESWLNSLGLTYWPQ	MVLYLVWAFIPEFWLNSLGLTYWPQ	7.0	8.0	unscreened	-	3713_21:38441891-38441891 G>A_MVLYLVWAFIPEFWLNSLGLTYWPQ
1:148251987-148251987 G>A	1.0	3713	MELANOMA	-	-	-	-	NBPF14,NBPF9	NM_001277444,p.S1075L|uc021owk.2,p.S233L|uc010paj.3,p.S330L|uc001erd.5,p.S831L|uc001erb.4,p.S445L|NM_015383,p.S2783L|uc021owl.2,p.S721L|uc031pon.1,p.S1075L|ENST00000369202,p.S4585L|uc021owp.2,p.S2783L|uc021owj.2,p.S477L	protein_coding	uc031pon.1	nonsynonymous SNV	exon25	c.C3224T	p.S1075L	PDSFQHYRSVFYSFEEQHISFALYV	PDSFQHYRSVFYLFEEQHISFALYV	5.0	1.0	unscreened	-	3713_1:148251987-148251987 G>A_PDSFQHYRSVFYLFEEQHISFALYV
6:33037535-33037535 C>T	1.0	3713	MELANOMA	-	-	-	-	HLA-DPA1	ENST00000419277,p.E77K|ENST00000453337,p.E77K|ENST00000428995,p.E77K|uc021ywh.1,p.E77K|uc010juk.3,p.E77K|NM_033554,p.E77K|NM_001242525,p.E77K|NM_001242524,p.E77K|uc003ocs.2,p.E77K|uc021ywg.1,p.E77K	retained_intron, protein_coding, processed_transcript	uc021ywh.1	nonsynonymous SNV	exon3	c.G229A	p.E77K	VDLDKKETVWHLEEFGQAFSFEAQG	VDLDKKETVWHLKEFGQAFSFEAQG	10.0	1.0	unscreened	-	3713_6:33037535-33037535 C>T_VDLDKKETVWHLKEFGQAFSFEAQG
2:238671500-238671500 C>T	1.0	3713	MELANOMA	-	-	-	-	LRRFIP1	NM_004735,p.P358S|uc002vxd.3,p.P358S|uc002vxf.3,p.P326S|ENST00000289175,p.P326S|NM_001137553,p.P326S|ENST00000244815,p.P358S|NM_001137552,p.P382S|uc002vxe.3,p.P382S|ENST00000392000,p.P382S	retained_intron, protein_coding, processed_transcript	uc002vxf.3	nonsynonymous SNV	exon8	c.C976T	p.P326S	QVQSQILESSSLPENTVQVESNEVM	QVQSQILESSSLSENTVQVESNEVM	10.0	4.0	-	-	3713_2:238671500-238671500 C>T_QVQSQILESSSLSENTVQVESNEVM
7:116859215-116859215 C>G	1.0	3713	MELANOMA	-	-	-	-	ST7	ENST00000490039,p.R443G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000490039	nonsynonymous SNV	exon13	c.C1327G	p.R443G	FYPYPICTETADRELLPFPQHFVCP	FYPYPICTETADGELLPFPQHFVCP	9.0	9.0	unscreened	-	3713_7:116859215-116859215 C>G_FYPYPICTETADGELLPFPQHFVCP
1:1198734-1198734 G>A	1.0	3713	MELANOMA	-	-	-	-	UBE2J2	ENST00000339385,p.P20L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000339385	nonsynonymous SNV	exon2	c.C59T	p.P20L	GRHYVVRGPEMTPYEGGYYHGKLIF	GRHYVVRGPEMTLYEGGYYHGKLIF	9.0	10.0	unscreened	-	3713_1:1198734-1198734 G>A_GRHYVVRGPEMTLYEGGYYHGKLIF
1:1198734-1198734 G>A	1.0	3713	MELANOMA	-	-	-	-	UBE2J2	uc001ado.3,p.P71L|NM_194315,p.P71L|ENST00000400930,p.P71L|ENST00000422076,p.P71L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ado.3	nonsynonymous SNV	exon4	c.C212T	p.P71L	YRHYVVRGPEMTPYEGGYYHGKLIF	YRHYVVRGPEMTLYEGGYYHGKLIF	9.0	10.0	-	-	3713_1:1198734-1198734 G>A_YRHYVVRGPEMTLYEGGYYHGKLIF
1:1198734-1198734 G>A	1.0	3713	MELANOMA	-	-	-	-	UBE2J2	ENST00000360466,p.P55L|ENST00000502382,p.P55L|NM_058167,p.P55L|ENST00000349431,p.P55L|ENST00000435198,p.P55L|uc001adp.3,p.P55L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001adp.3	nonsynonymous SNV	exon3	c.C164T	p.P55L	EWHYVVRGPEMTPYEGGYYHGKLIF	EWHYVVRGPEMTLYEGGYYHGKLIF	9.0	10.0	unscreened	-	3713_1:1198734-1198734 G>A_EWHYVVRGPEMTLYEGGYYHGKLIF
16:24835013-24835013 C>T	1.0	3713	MELANOMA	-	-	-	-	TNRC6A	uc002dmm.3,p.S1925F|uc002dmr.3,p.S124F|uc002dmn.3,p.S1623F|ENST00000395799,p.S1925F|uc002dmo.3,p.S1564F|ENST00000432286,p.S403F|uc010bxs.3,p.S1672F|ENST00000450465,p.S869F|ENST00000315183,p.S1876F|NM_014494,p.S1925F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bxs.3	nonsynonymous SNV	exon22	c.C5015T	p.S1672F	LHGTSLWGTPHYSTSLWGPPSSSDP	LHGTSLWGTPHYFTSLWGPPSSSDP	9.0	3.0	unscreened	-	3713_16:24835013-24835013 C>T_LHGTSLWGTPHYFTSLWGPPSSSDP
20:39980554-39980554 C>T	1.0	3713	MELANOMA	-	-	-	-	LPIN3	uc002xjx.3,p.P399L|NM_001301860,p.P400L|NM_022896,p.P399L|uc010ggh.3,p.P400L|ENST00000373257,p.P399L	protein_coding, processed_transcript	uc010ggh.3	nonsynonymous SNV	exon8	c.C1199T	p.P400L	PSLDSENAALYFPQSDSGLGARRWS	PSLDSENAALYFLQSDSGLGARRWS	9.0	6.0	-	-	3713_20:39980554-39980554 C>T_PSLDSENAALYFLQSDSGLGARRWS
9:139569231-139569231 G>A	1.0	3713	MELANOMA	-	-	-	-	AGPAT2	ENST00000371694,p.S174F|NM_001012727,p.S174F|uc004cij.1,p.S174F	retained_intron, protein_coding	uc004cij.1	nonsynonymous SNV	exon4	c.C521T	p.S174F	RENVPIVPVVYSSFSSFYNTKKKFF	RENVPIVPVVYSFFSSFYNTKKKFF	6.0	2.0	-	-	3713_9:139569231-139569231 G>A_RENVPIVPVVYSFFSSFYNTKKKFF
9:139569231-139569231 G>A	1.0	3713	MELANOMA	-	-	-	-	AGPAT2	uc004cii.1,p.S206F|ENST00000371696,p.S206F|ENST00000538402,p.S206F|NM_006412,p.S206F	retained_intron, protein_coding	uc004cii.1	nonsynonymous SNV	exon5	c.C617T	p.S206F	QAQVPIVPVVYSSFSSFYNTKKKFF	QAQVPIVPVVYSFFSSFYNTKKKFF	6.0	2.0	unscreened	-	3713_9:139569231-139569231 G>A_QAQVPIVPVVYSFFSSFYNTKKKFF
9:97216294-97216294 C>T	1.0	3713	MELANOMA	-	-	-	-	HIATL1	uc011luh.2,p.L259F|NM_032558,p.L324F|ENST00000428393,p.L259F|ENST00000375344,p.L324F|uc004aur.3,p.L324F	protein_coding	uc011luh.2	nonsynonymous SNV	exon8	c.C775T	p.L259F	LMRSLGNKNTVLLGLGFQMLQLAWY	LMRSLGNKNTVLFGLGFQMLQLAWY	9.0	8.0	-	-	3713_9:97216294-97216294 C>T_LMRSLGNKNTVLFGLGFQMLQLAWY
12:105150995-105150995 C>T	1.0	3713	MELANOMA	-	-	-	2	CHST11	ENST00000549016,p.S118F|uc001tky.3,p.S153F|ENST00000549260,p.S153F|NM_018413,p.S158F|uc001tkz.3,p.S158F|NM_001173982,p.S153F|ENST00000303694,p.S158F	protein_coding, processed_transcript	uc001tkz.3	nonsynonymous SNV	exon3	c.C473T	p.S158F	DPMEIPANEAHVSANLKTLNQYSIP	DPMEIPANEAHVFANLKTLNQYSIP	7.0	5.0	unscreened	-	3713_12:105150995-105150995 C>T_DPMEIPANEAHVFANLKTLNQYSIP
17:33687286-33687286 C>T	1.0	3713	MELANOMA	-	-	-	-	SLFN11	NM_152270,p.E392K|NM_001104590,p.E392K|uc002hjh.4,p.E392K|uc010ctr.3,p.E392K|NM_001104587,p.E392K|ENST00000394566,p.E392K|uc002hjg.4,p.E392K|NM_001104588,p.E392K|uc010ctq.3,p.E392K|NM_001104589,p.E392K|uc010ctp.3,p.E392K|ENST00000308377,p.E392K	retained_intron, protein_coding	uc010ctr.3	nonsynonymous SNV	exon4	c.G1174A	p.E392K	PVYSKKGLEHKKELQQLLFSVPPGY	PVYSKKGLEHKKKLQQLLFSVPPGY	10.0	4.0	-	-	3713_17:33687286-33687286 C>T_PVYSKKGLEHKKKLQQLLFSVPPGY
X:153037720-153037720 C>T	1.0	3713	MELANOMA	-	-	-	-	PLXNB3	uc010nuk.2,p.S941L|uc011mzd.2,p.S571L|uc004fii.2,p.S918L|ENST00000538282,p.S528L|NM_001163257,p.S941L|NM_005393,p.S918L|ENST00000361971,p.S918L|ENST00000538966,p.S941L|ENST00000538776,p.S571L	protein_coding, processed_transcript	uc011mzd.2	nonsynonymous SNV	exon15	c.C1712T	p.S571L	VRVAIKSQPPGISSQHFTYQDPVLL	VRVAIKSQPPGILSQHFTYQDPVLL	9.0	10.0	-	-	3713_X:153037720-153037720 C>T_VRVAIKSQPPGILSQHFTYQDPVLL
8:25232133-25232133 C>T	1.0	3713	MELANOMA	-	-	-	-	DOCK5	uc003xek.3,p.A49V|uc003xeh.1,p.A974V|uc003xei.3,p.A830V|ENST00000276440,p.A1260V|NM_024940,p.A1260V|uc003xeg.3,p.A1260V	retained_intron, protein_coding, nonsense_mediated_decay	uc003xek.3	nonsynonymous SNV	exon3	c.C146T	p.A49V	RDLHRDCENYTEAAYTLLLHAELLQ	RDLHRDCENYTEVAYTLLLHAELLQ	7.0	4.0	-	-	3713_8:25232133-25232133 C>T_RDLHRDCENYTEVAYTLLLHAELLQ
15:89074380-89074380 G>A	1.0	3713	MELANOMA	-	-	-	-	DET1	uc002bmq.2,p.S197F|uc002bmr.2,p.S186F|ENST00000268148,p.S186F|ENST00000564406,p.S197F|ENST00000444300,p.S197F|NM_001144074,p.S186F|NM_017996,p.S197F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002bmr.2	nonsynonymous SNV	exon2	c.C557T	p.S186F	YRNSESVTPNPRSPLEDYSLHIIDL	YRNSESVTPNPRFPLEDYSLHIIDL	5.0	6.0	unscreened	-	3713_15:89074380-89074380 G>A_YRNSESVTPNPRFPLEDYSLHIIDL
15:22954270-22954270 C>T	1.0	3713	MELANOMA	-	-	-	-	CYFIP1	ENST00000560848,p.H474Y|NM_001287810,p.H474Y|uc001yus.3,p.H474Y|uc010aya.1,p.H502Y|uc001yut.3,p.H474Y|NM_014608,p.H474Y|ENST00000313077,p.H474Y	retained_intron, protein_coding, nonsense_mediated_decay	uc010aya.1	nonsynonymous SNV	exon13	c.C1504T	p.H502Y	QVLMGRMESVFNHAIRHTVYAALQD	QVLMGRMESVFNYAIRHTVYAALQD	7.0	8.0	-	-	3713_15:22954270-22954270 C>T_QVLMGRMESVFNYAIRHTVYAALQD
6:56472917-56472917 G>A	1.0	3713	MELANOMA	-	-	-	-	RNU6-71P	uc021zax.1,p.P1633L|ENST00000370754,p.P2137L|ENST00000439203,p.P1633L|ENST00000446842,p.P1633L|ENST00000361203,p.P1959L|ENST00000370769,p.P1959L|ENST00000312431,p.P1959L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zax.1	nonsynonymous SNV	exon26	c.C4898T	p.P1633L	NARRWLSFCKFQPSTVHDYRQEEDV	NARRWLSFCKFQLSTVHDYRQEEDV	10.0	2.0	unscreened	-	3713_6:56472917-56472917 G>A_NARRWLSFCKFQLSTVHDYRQEEDV
12:52380736-52380736 T>C	1.0	3713	MELANOMA	-	-	-	-	ACVR1B	uc001rzl.3,p.L424P|ENST00000415850,p.L424P	protein_coding, processed_transcript, nonsense_mediated_decay	uc001rzl.3	nonsynonymous SNV	exon7	c.T1271C	p.L424P	EIARRCNSGGTFLFCLCSYLPFQDA	EIARRCNSGGTFPFCLCSYLPFQDA	6.0	5.0	-	-	3713_12:52380736-52380736 T>C_EIARRCNSGGTFPFCLCSYLPFQDA
3:170802981-170802981 G>A	1.0	3713	MELANOMA	-	-	-	-	TNIK	uc003fhn.2,p.P938L|NM_015028,p.P975L|ENST00000460047,p.P912L|ENST00000284483,p.P967L|uc003fhm.2,p.P912L|uc003fhk.2,p.P967L|NM_001161566,p.P883L|ENST00000475336,p.P883L|ENST00000369326,p.P953L|NM_001161562,p.P938L|NM_001161564,p.P912L|uc003fhj.2,p.P946L|uc003fhh.2,p.P975L|NM_001161560,p.P967L|ENST00000538048,p.P927L|ENST00000488470,p.P920L|ENST00000470834,p.P938L|NM_001161565,p.P891L|uc003fhi.2,p.P920L|ENST00000357327,p.P946L|ENST00000341852,p.P891L|NM_001161563,p.P920L|ENST00000436636,p.P975L|uc003fhl.2,p.P891L|uc003fho.2,p.P883L|NM_001161561,p.P946L|uc003fhg.2,p.P153L	retained_intron, protein_coding, processed_transcript	uc003fho.2	nonsynonymous SNV	exon22	c.C2648T	p.P883L	YGMGSSTKASFTPFVDPRVYQTSPT	YGMGSSTKASFTLFVDPRVYQTSPT	9.0	7.0	-	-	3713_3:170802981-170802981 G>A_YGMGSSTKASFTLFVDPRVYQTSPT
2:231222552-231222552 G>A	1.0	3713	MELANOMA	-	-	-	-	SP140L	NM_138402,p.G47E|ENST00000243810,p.G47E|ENST00000415673,p.G47E|ENST00000444636,p.G47E|ENST00000396563,p.G47E|uc010fxm.1,p.G47E	retained_intron, protein_coding	uc010fxm.1	nonsynonymous SNV	exon3	c.G140A	p.G47E	QRLFTEDQDVDEGLVYDTVFKHFKR	QRLFTEDQDVDEELVYDTVFKHFKR	7.0	4.0	-	-	3713_2:231222552-231222552 G>A_QRLFTEDQDVDEELVYDTVFKHFKR
10:95134635-95134635 G>A	1.0	3713	MELANOMA	-	-	-	-	MYOF	ENST00000358334,p.S716F|uc001kin.3,p.S729F|ENST00000371502,p.S729F|ENST00000359263,p.S729F|uc001kio.3,p.S716F|NM_133337,p.S716F|NM_013451,p.S729F|ENST00000371501,p.S729F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001kio.3	nonsynonymous SNV	exon22	c.C2147T	p.S716F	VLDTQIRKLRSRSLSQIHEAAVRMR	VLDTQIRKLRSRFLSQIHEAAVRMR	8.0	6.0	-	-	3713_10:95134635-95134635 G>A_VLDTQIRKLRSRFLSQIHEAAVRMR
5:38959923-38959923 G>A	1.0	3713	MELANOMA	-	-	-	-	RICTOR	NM_152756,p.P670L|NM_001285440,p.P385L|NM_001285439,p.P670L|uc003jlp.2,p.P670L|ENST00000357387,p.P670L|uc003jlo.2,p.P670L|uc010ivf.2,p.P385L|ENST00000296782,p.P670L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ivf.2	nonsynonymous SNV	exon21	c.C1154T	p.P385L	HYFLFIGTLSCHPHGVKMLEKCSVF	HYFLFIGTLSCHLHGVKMLEKCSVF	7.0	4.0	unscreened	-	3713_5:38959923-38959923 G>A_HYFLFIGTLSCHLHGVKMLEKCSVF
11:248971-248971 C>T	1.0	3713	MELANOMA	-	-	-	-	PSMD13	ENST00000528906,p.R192W|ENST00000431206,p.R232W|uc001loo.2,p.R232W|NM_175932,p.R232W|uc001lol.2,p.R230W|ENST00000352303,p.R230W|uc001lon.2,p.R165W|ENST00000532097,p.R230W|NM_002817,p.R230W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001loo.2	nonsynonymous SNV	exon7	c.C694T	p.R232W	MHPVLESLRNTDRQWLIDTLYAFNS	MHPVLESLRNTDWQWLIDTLYAFNS	9.0	10.0	-	-	3713_11:248971-248971 C>T_MHPVLESLRNTDWQWLIDTLYAFNS
X:153037720-153037720 C>T	1.0	3713	MELANOMA	-	-	-	-	PLXNB3	uc011mzc.2,p.S600L	protein_coding, processed_transcript	uc011mzc.2	nonsynonymous SNV	exon16	c.C1799T	p.S600L	VRVAIKSQPPGISSQHFTYQGWVGG	VRVAIKSQPPGILSQHFTYQGWVGG	9.0	10.0	unscreened	-	3713_X:153037720-153037720 C>T_VRVAIKSQPPGILSQHFTYQGWVGG
15:68475983-68475983 C>T	1.0	3713	MELANOMA	-	-	-	-	PIAS1	ENST00000545237,p.P549L|ENST00000249636,p.P547L|uc002aqz.3,p.P547L|NM_016166,p.P547L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002aqz.3	nonsynonymous SNV	exon13	c.C1640T	p.P547L	PMPYDLQGLDFFPFLSGDNQHYNTS	PMPYDLQGLDFFLFLSGDNQHYNTS	6.0	7.0	unscreened	-	3713_15:68475983-68475983 C>T_PMPYDLQGLDFFLFLSGDNQHYNTS
7:107866703-107866703 G>A	1.0	3713	MELANOMA	-	-	-	-	NRCAM	uc011kmk.2,p.H224Y|NM_001193583,p.H224Y|uc003vfd.3,p.H224Y|ENST00000379028,p.H224Y|ENST00000379024,p.H224Y|ENST00000351718,p.H218Y|NM_001037132,p.H224Y|NM_001193584,p.H224Y|NM_005010,p.H218Y|uc003vfe.3,p.H224Y|uc003vfc.3,p.H218Y|ENST00000413765,p.H224Y|ENST00000425651,p.H224Y|ENST00000379022,p.H224Y|ENST00000417701,p.H218Y|NM_001193582,p.H224Y|uc022aka.1,p.H224Y	retained_intron, protein_coding, processed_transcript	uc022aka.1	nonsynonymous SNV	exon6	c.C670T	p.H224Y	TREDYICYARFNHTQTIQQKQPISV	TREDYICYARFNYTQTIQQKQPISV	8.0	6.0	unscreened	-	3713_7:107866703-107866703 G>A_TREDYICYARFNYTQTIQQKQPISV
7:33035946-33035946 C>T	1.0	3713	MELANOMA	-	-	-	2	FKBP9	ENST00000242209,p.T404I|ENST00000538443,p.T266I|uc011kam.2,p.T172I|NM_001284341,p.T457I|ENST00000490776,p.T172I|NM_007270,p.T404I|ENST00000418354,p.T172I|ENST00000538336,p.T457I|uc011kal.2,p.T457I|uc003tdh.3,p.T404I|NM_001284343,p.T172I	retained_intron, protein_coding, processed_transcript	uc011kam.2	nonsynonymous SNV	exon4	c.C515T	p.T172I	LKYHYNASLLDGTLLDSTWNLGKTY	LKYHYNASLLDGILLDSTWNLGKTY	9.0	7.0	-	-	3713_7:33035946-33035946 C>T_LKYHYNASLLDGILLDSTWNLGKTY
16:1497074-1497074 G>A	1.0	3713	MELANOMA	-	-	-	-	CLCN7	uc002clw.3,p.P731L|NM_001287,p.P755L|uc002clv.3,p.P755L|ENST00000382745,p.P755L|ENST00000448525,p.P731L|NM_001114331,p.P731L|uc002clu.3,p.P203L	retained_intron, protein_coding, processed_transcript	uc002clw.3	nonsynonymous SNV	exon23	c.C2192T	p.P731L	PSPYTVPQEASLPRVFKLFRALGLR	PSPYTVPQEASLLRVFKLFRALGLR	10.0	7.0	-	-	3713_16:1497074-1497074 G>A_PSPYTVPQEASLLRVFKLFRALGLR
2:96955035-96955035 G>A	1.0	3713	MELANOMA	-	-	-	-	SNRNP200	ENST00000323853,p.T1008I|uc002svu.3,p.T1008I|NM_014014,p.T1008I	retained_intron, protein_coding, nonsense_mediated_decay	uc002svu.3	nonsynonymous SNV	exon22	c.C3023T	p.T1008I	DTVQTYNQLLKPTLSEIELFRVFSL	DTVQTYNQLLKPILSEIELFRVFSL	9.0	5.0	-	-	3713_2:96955035-96955035 G>A_DTVQTYNQLLKPILSEIELFRVFSL
7:101845237-101845237 C>T	1.0	3713	MELANOMA	-	-	-	1	CUX1	ENST00000550008,p.S831F|ENST00000292535,p.S887F|NM_181552,p.S887F|uc003uys.4,p.S898F|ENST00000360264,p.S898F|ENST00000549414,p.S865F|uc003uyx.4,p.S887F|ENST00000546411,p.S785F|ENST00000556210,p.S729F|NM_001202543,p.S898F	retained_intron, protein_coding, processed_transcript	uc003uyx.4	nonsynonymous SNV	exon18	c.C2660T	p.S887F	SSEYWKEWPSAESPYSQSSELSLTG	SSEYWKEWPSAEFPYSQSSELSLTG	8.0	8.0	-	-	3713_7:101845237-101845237 C>T_SSEYWKEWPSAEFPYSQSSELSLTG
3:20153134-20153134 C>T	1.0	3713	MELANOMA	-	-	ID=COSM2948441;OCCURENCE=1(liver)	-	KAT2B	ENST00000263754,p.R300W|NM_003884,p.R300W|uc003cbq.3,p.R300W	retained_intron, protein_coding, processed_transcript	uc003cbq.3	nonsynonymous SNV	exon6	c.C898T	p.R300W	YCNVPQFCDSLPRYETTQVFGRTLL	YCNVPQFCDSLPWYETTQVFGRTLL	9.0	7.0	-	-	3713_3:20153134-20153134 C>T_YCNVPQFCDSLPWYETTQVFGRTLL
9:134501710-134501710 G>A	1.0	3713	MELANOMA	-	-	-	-	RAPGEF1	NM_198679,p.S435F|uc022bou.1,p.S422F|ENST00000372190,p.S435F|uc022bov.1,p.S422F|NM_005312,p.S417F|ENST00000372195,p.S434F|ENST00000372189,p.S417F|uc022bot.1,p.S417F|uc022bos.1,p.S435F	protein_coding, processed_transcript	uc022bov.1	nonsynonymous SNV	exon10	c.C1265T	p.S422F	QQTAWNLSPLPESLGESGSPFLGPP	QQTAWNLSPLPEFLGESGSPFLGPP	8.0	4.0	-	-	3713_9:134501710-134501710 G>A_QQTAWNLSPLPEFLGESGSPFLGPP
7:1477983-1477983 G>A	1.0	3713	MELANOMA	0.0005	-	-	-	MICALL2	NM_182924,p.P710L|ENST00000297508,p.P710L|uc003ski.4,p.P197L|uc003skj.4,p.P710L|ENST00000405088,p.P498L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003skj.4	nonsynonymous SNV	exon11	c.C2129T	p.P710L	EKKPHLQGKPGRPLSPANVPALPGE	EKKPHLQGKPGRLLSPANVPALPGE	10.0	3.0	unscreened	-	3713_7:1477983-1477983 G>A_EKKPHLQGKPGRLLSPANVPALPGE
16:29990608-29990608 C>T	1.0	3713	MELANOMA	-	-	-	-	TAOK2	uc021tgf.1,p.S181F|uc002dvb.2,p.S181F|ENST00000279394,p.S181F|NM_016151,p.S181F|uc010bzm.2,p.S181F|uc002dva.2,p.S181F|NM_004783,p.S181F|NM_001252043,p.S181F|uc002dvc.2,p.S181F|ENST00000543033,p.S181F|ENST00000308893,p.S181F	retained_intron, protein_coding	uc021tgf.1	nonsynonymous SNV	exon7	c.C542T	p.S181F	DFGSASIMAPANSFVGTPYWMAPEV	DFGSASIMAPANFFVGTPYWMAPEV	8.0	2.0	-	-	3713_16:29990608-29990608 C>T_DFGSASIMAPANFFVGTPYWMAPEV
1:226578207-226578207 G>A	1.0	3713	MELANOMA	-	-	-	-	PARP1	uc001hqd.4,p.P174L|NM_001618,p.P174L|ENST00000366794,p.P174L	protein_coding, processed_transcript	uc001hqd.4	nonsynonymous SNV	exon4	c.C521T	p.P174L	CFVKNREELGFRPEYSASQLKGFSL	CFVKNREELGFRLEYSASQLKGFSL	8.0	5.0	-	-	3713_1:226578207-226578207 G>A_CFVKNREELGFRLEYSASQLKGFSL
X:10437782-10437782 A>G	1.0	3713	MELANOMA	-	-	-	-	MID1	NM_001193278,p.Y465H|NM_033290,p.Y414H|NM_033289,p.Y376H|ENST00000380782,p.Y414H|uc004ctn.2,p.Y414H|ENST00000453318,p.Y414H|ENST00000380780,p.Y414H|uc004ctj.4,p.Y414H|uc004ctk.4,p.Y414H|NM_000381,p.Y414H|NM_001193279,p.Y414H|uc004cte.4,p.Y414H|uc004ctm.2,p.Y465H|uc004ctc.4,p.Y181H|ENST00000380779,p.Y414H|uc004cto.2,p.Y376H|uc004ctl.2,p.Y170H|uc004cti.4,p.Y414H|uc004csz.4,p.Y86H|ENST00000380787,p.Y414H|uc004ctb.4,p.Y74H|ENST00000317552,p.Y414H|NM_001193280,p.Y376H|uc004cth.4,p.Y376H|uc004ctg.4,p.Y414H|NM_001098624,p.Y414H|ENST00000413894,p.Y414H|ENST00000380785,p.Y414H|NM_001193277,p.Y414H|uc004cta.4,p.Y170H|uc004ctd.4,p.Y125H	protein_coding, processed_transcript	uc004cto.2	nonsynonymous SNV	exon6	c.T1126C	p.Y376H	HWTSDDEFSVVSYELQYTIFTGQAN	HWTSDDEFSVVSHELQYTIFTGQAN	8.0	10.0	-	-	3713_X:10437782-10437782 A>G_HWTSDDEFSVVSHELQYTIFTGQAN
1:35827251-35827251 C>T	1.0	3713	MELANOMA	-	-	-	-	ZMYM4	uc009vuu.3,p.S202F|uc001byt.3,p.S234F|ENST00000314607,p.S234F|NM_005095,p.S234F|ENST00000373297,p.S234F	protein_coding, processed_transcript	uc009vuu.3	nonsynonymous SNV	exon6	c.C605T	p.S202F	FRDSSYPFANKESIGSELGNSFASN	FRDSSYPFANKEFIGSELGNSFASN	9.0	10.0	unscreened	-	3713_1:35827251-35827251 C>T_FRDSSYPFANKEFIGSELGNSFASN
1:155887438-155887438 G>A	1.0	3713	MELANOMA	-	-	-	-	KIAA0907	ENST00000368320,p.P431L|uc001fmi.1,p.P431L|uc001fmj.1,p.P431L|ENST00000368321,p.P431L|NM_014949,p.P431L	protein_coding, processed_transcript	uc001fmj.1	nonsynonymous SNV	exon11	c.C1292T	p.P431L	STGQSPMGGPFIPAAPVKTALPAGP	STGQSPMGGPFILAAPVKTALPAGP	8.0	2.0	unscreened	-	3713_1:155887438-155887438 G>A_STGQSPMGGPFILAAPVKTALPAGP
5:14461179-14461179 C>T	1.0	3713	MELANOMA	-	-	-	-	TRIO	ENST00000344204,p.S1752F|uc003jff.3,p.S1752F|ENST00000537187,p.S1752F|uc003jfh.1,p.S1401F|ENST00000512070,p.S1693F|NM_007118,p.S1752F|ENST00000513206,p.S1485F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jfh.1	nonsynonymous SNV	exon30	c.C4202T	p.S1401F	SSNDASPPASVASLQPHMIGAQSSP	SSNDASPPASVAFLQPHMIGAQSSP	6.0	8.0	-	-	3713_5:14461179-14461179 C>T_SSNDASPPASVAFLQPHMIGAQSSP
12:420166-420166 G>A	1.0	3713	MELANOMA	-	-	-	1	KDM5A	uc010sdn.1,p.P993L|ENST00000399788,p.P1034L|ENST00000544760,p.P653L|ENST00000382815,p.P1034L|NM_001042603,p.P1034L|uc001qif.1,p.P1034L	retained_intron, protein_coding, processed_transcript	uc010sdn.1	nonsynonymous SNV	exon20	c.C2978T	p.P993L	QLESLSAKGRPIPVRLEALPQVESQ	QLESLSAKGRPILVRLEALPQVESQ	7.0	9.0	-	-	3713_12:420166-420166 G>A_QLESLSAKGRPILVRLEALPQVESQ
6:35565053-35565053 C>T	1.0	3713	MELANOMA	-	-	-	-	FKBP5	uc003okz.2,p.E213K|NM_001145777,p.E213K|ENST00000542713,p.E213K	protein_coding	uc003okz.2	nonsynonymous SNV	exon6	c.G637A	p.E213K	GIDKALEKMQREEQCILYLGPRPKN	GIDKALEKMQREKQCILYLGPRPKN	10.0	7.0	unscreened	-	3713_6:35565053-35565053 C>T_GIDKALEKMQREKQCILYLGPRPKN
21:27102077-27102077 G>A	1.0	3713	MELANOMA	-	-	-	-	ATP5J	uc002ylv.3,p.S18F|NM_001003701,p.S18F|ENST00000457143,p.S18F	retained_intron, protein_coding	uc002ylv.3	nonsynonymous SNV	exon2	c.C53T	p.S18F	GISMILQRLFRFSSVIRSAVSVHLR	GISMILQRLFRFFSVIRSAVSVHLR	10.0	7.0	-	-	3713_21:27102077-27102077 G>A_GISMILQRLFRFFSVIRSAVSVHLR
12:57501995-57501995 G>A	1.0	3713	MELANOMA	-	-	-	1	STAT6	ENST00000553275,p.P23S|uc009zpg.3,p.P72S|NM_001178079,p.P23S|NM_001178078,p.P23S|ENST00000554825,p.P23S|ENST00000543873,p.P23S|uc001sna.3,p.P23S|uc009zpf.3,p.P23S|ENST00000300134,p.P23S|ENST00000454075,p.P23S|ENST00000554663,p.P23S|ENST00000554764,p.P23S|ENST00000553397,p.P23S|ENST00000556155,p.P23S|ENST00000556259,p.P23S|ENST00000555849,p.P23S|uc009zpe.3,p.P23S|ENST00000553499,p.P23S|ENST00000555104,p.P23S|NM_003153,p.P23S|ENST00000557635,p.P23S	retained_intron, protein_coding, nonsense_mediated_decay	uc009zpg.3	nonsynonymous SNV	exon2	c.C214T	p.P72S	PPEKVQRLYVDFPQHLRHLLGDWLE	PPEKVQRLYVDFSQHLRHLLGDWLE	10.0	4.0	-	-	3713_12:57501995-57501995 G>A_PPEKVQRLYVDFSQHLRHLLGDWLE
6:155153217-155153217 C>T	1.0	3713	MELANOMA	-	-	-	-	SCAF8	ENST00000417268,p.S835F|NM_001286199,p.S835F|uc011efk.2,p.S880F|NM_014892,p.S835F|NM_001286189,p.S901F|NM_001286194,p.S880F|uc003qpz.3,p.S835F|ENST00000367186,p.S901F|ENST00000367178,p.S835F|NM_001286188,p.S913F|uc011efj.2,p.S901F|uc003qqa.3,p.S835F	protein_coding, processed_transcript	uc011efk.2	nonsynonymous SNV	exon21	c.C2639T	p.S880F	NSEILGVRPSNVSSSSGIIAAQPPN	NSEILGVRPSNVFSSSGIIAAQPPN	6.0	9.0	-	-	3713_6:155153217-155153217 C>T_NSEILGVRPSNVFSSSGIIAAQPPN
12:113357409-113357409 C>T	1.0	3713	MELANOMA	0.0032	-	-	-	OAS1	ENST00000445409,p.L386F|uc001tuc.3,p.L386F|NM_001032409,p.L386F	protein_coding, processed_transcript	uc001tuc.3	nonsynonymous SNV	exon6	c.C1156T	p.L386F	WGKGLQCYLDQFLHFQVGLLIQRGQ	WGKGLQCYLDQFFHFQVGLLIQRGQ	6.0	7.0	unscreened	-	3713_12:113357409-113357409 C>T_WGKGLQCYLDQFFHFQVGLLIQRGQ
1:55586423-55586423 G>A	1.0	3713	MELANOMA	-	-	-	-	USP24	uc001cyg.4,p.R1286W|ENST00000294383,p.R1452W|uc021onw.1,p.R1452W|ENST00000407756,p.R1292W|NM_015306,p.R1452W	retained_intron, protein_coding, processed_transcript	uc021onw.1	nonsynonymous SNV	exon38	c.C4354T	p.R1452W	DILLGSPSAEIRRVACDQLYTLSQT	DILLGSPSAEIRWVACDQLYTLSQT	8.0	9.0	-	-	3713_1:55586423-55586423 G>A_DILLGSPSAEIRWVACDQLYTLSQT
14:31763249-31763249 G>A	1.0	3713	MELANOMA	-	-	-	-	HEATR5A	uc001wrf.4,p.S1894F|ENST00000389961,p.S1888F|ENST00000543095,p.S1894F|uc010ami.3,p.S1424F|NM_015473,p.S1894F|ENST00000439348,p.S1813F|ENST00000439727,p.S1601F	retained_intron, protein_coding	uc010ami.3	nonsynonymous SNV	exon27	c.C4271T	p.S1424F	LHSIFQYPNPAVSYPYIYSLASCIM	LHSIFQYPNPAVFYPYIYSLASCIM	8.0	2.0	-	-	3713_14:31763249-31763249 G>A_LHSIFQYPNPAVFYPYIYSLASCIM
2:231036446-231036446 G>A	1.0	3713	MELANOMA	-	-	-	-	SP110	uc002vqg.3,p.P618L|ENST00000258381,p.P618L|NM_080424,p.P618L	retained_intron, protein_coding, processed_transcript	uc002vqg.3	nonsynonymous SNV	exon17	c.C1853T	p.P618L	KCEFLLLKAYCHPQSSFFTGIPFNI	KCEFLLLKAYCHLQSSFFTGIPFNI	9.0	4.0	-	-	3713_2:231036446-231036446 G>A_KCEFLLLKAYCHLQSSFFTGIPFNI
22:44368832-44368832 T>G	1.0	3713	MELANOMA	-	-	-	-	SAMM50	NM_015380,p.S171A|ENST00000350028,p.S171A|uc003bej.3,p.S171A	retained_intron, protein_coding, processed_transcript	uc003bej.3	nonsynonymous SNV	exon6	c.T511G	p.S171A	VTFQFSYGTKETSYGLSFFKPRPGN	VTFQFSYGTKETAYGLSFFKPRPGN	7.0	7.0	-	-	3713_22:44368832-44368832 T>G_VTFQFSYGTKETAYGLSFFKPRPGN
17:41369312-41369312 C>T	1.0	3713	MELANOMA	-	-	-	-	TMEM106A	NM_145041,p.H217Y|uc010why.1,p.H169Y|ENST00000588693,p.H217Y|ENST00000541594,p.H169Y|NM_001291588,p.H170Y|ENST00000331615,p.H217Y|ENST00000536052,p.H170Y|uc010cze.1,p.H217Y|NM_001291586,p.H217Y|ENST00000588659,p.H217Y|NM_001291587,p.H169Y|uc002idn.1,p.H217Y|uc010whz.1,p.H170Y	retained_intron, protein_coding, processed_transcript	uc010whz.1	nonsynonymous SNV	exon6	c.C508T	p.H170Y	YKICTWLEIKVHHVLLHIQGTLTCS	YKICTWLEIKVHYVLLHIQGTLTCS	6.0	10.0	unscreened	-	3713_17:41369312-41369312 C>T_YKICTWLEIKVHYVLLHIQGTLTCS
12:6703638-6703638 G>A	1.0	3713	MELANOMA	-	-	-	1	CHD4	ENST00000544040,p.S760F|NM_001273,p.S767F|uc001qpo.3,p.S767F|uc001qpp.3,p.S764F|ENST00000544484,p.S764F|NM_001297553,p.S760F|ENST00000309577,p.S767F|ENST00000357008,p.S767F|uc001qpn.3,p.S760F	retained_intron, protein_coding, processed_transcript	uc001qpp.3	nonsynonymous SNV	exon15	c.C2291T	p.S764F	LGKTVQTAVFLYSLYKEGHSKGPFL	LGKTVQTAVFLYFLYKEGHSKGPFL	9.0	6.0	-	-	3713_12:6703638-6703638 G>A_LGKTVQTAVFLYFLYKEGHSKGPFL
18:43492354-43492369 GCCCAGCGATAAATCA>-	1.0	3713	MELANOMA	-	-	-	-	EPG5	uc002lbn.2,p.L165fs|uc002lbm.3,p.L1290fs|ENST00000590884,p.L165fs|ENST00000587884,p.L165fs|ENST00000282041,p.L1290fs|uc002lbo.1,p.L1290fs|ENST00000592272,p.L165fs|NM_020964,p.L1290fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lbo.1	frameshift deletion	exon22	c.3869_3884del	p.L1290fs	LKLPIVPSLQRLLIYRWAHQALVTP	LKLPIVPSLQRLPTRLWSHLLITPSCHSFGRSSSFCIFTVRDHSMGYP	6.0	6.0	unscreened	-	3713_18:43492354-43492369 GCCCAGCGATAAATCA>-_LKLPIVPSLQRLPTRLWSHLLITPSCHSFGRSSSFCIFTVRDHSMGYP
15:99901582-99901582 C>T	1.0	3713	MELANOMA	-	-	-	-	LRRC28	uc010uru.1,p.S177F|ENST00000447360,p.S246F|ENST00000422500,p.S177F|NM_144598,p.S246F|uc010urt.1,p.S60F|ENST00000561276,p.S201F|uc002bvb.1,p.S92F|ENST00000301981,p.S246F|ENST00000558172,p.S142F|uc002bva.1,p.S246F|NM_001284400,p.S246F|uc002bvc.1,p.S246F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uru.1	nonsynonymous SNV	exon7	c.C530T	p.S177F	GAPIQVSEVKLLSFSSGQRTVFLPA	GAPIQVSEVKLLFFSSGQRTVFLPA	7.0	9.0	-	-	3713_15:99901582-99901582 C>T_GAPIQVSEVKLLFFSSGQRTVFLPA
22:21344786-21344786 C>T	1.0	3713	MELANOMA	-	-	-	1	LZTR1	uc011ahy.2,p.L236F|ENST00000215739,p.L255F|NM_006767,p.L255F|ENST00000389355,p.L236F|uc002zto.3,p.L255F|uc010gsr.1,p.L126F|uc002ztn.3,p.L214F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ahy.2	nonsynonymous SNV	exon7	c.C706T	p.L236F	FSGQSGAKITNNLFQFEFKDKTWTR	FSGQSGAKITNNFFQFEFKDKTWTR	10.0	6.0	-	-	3713_22:21344786-21344786 C>T_FSGQSGAKITNNFFQFEFKDKTWTR
22:30412617-30412617 C>T	1.0	3713	MELANOMA	-	-	-	-	MTMR3	uc003agv.4,p.S535F|uc003agu.4,p.S535F|ENST00000351488,p.S535F|ENST00000333027,p.S535F|NM_021090,p.S535F|ENST00000406629,p.S535F|ENST00000323630,p.S399F|uc003agw.4,p.S535F|NM_153050,p.S535F|NM_153051,p.S535F|ENST00000401950,p.S535F	retained_intron, protein_coding, processed_transcript	uc003agw.4	nonsynonymous SNV	exon15	c.C1604T	p.S535F	ERGEKHTQERTCSVWSLLRAGNKAF	ERGEKHTQERTCFVWSLLRAGNKAF	8.0	3.0	unscreened	-	3713_22:30412617-30412617 C>T_ERGEKHTQERTCFVWSLLRAGNKAF
7:100211216-100211216 C>T	1.0	3713	MELANOMA	-	-	-	-	MOSPD3	uc003uvs.3,p.S133F|ENST00000393950,p.S133F|ENST00000223054,p.S133F|NM_001040097,p.S133F|ENST00000424091,p.S123F|NM_023948,p.S133F|uc003uvq.3,p.S133F|uc003uvt.3,p.S123F|NM_001040099,p.S123F|NM_001040098,p.S133F|ENST00000493970,p.S133F|uc003uvr.3,p.S133F|ENST00000379527,p.S133F	retained_intron, protein_coding, nonsense_mediated_decay	uc003uvt.3	nonsynonymous SNV	exon3	c.C368T	p.S123F	AEGRVVGRKDITSILRAPAYPLELQ	AEGRVVGRKDITFILRAPAYPLELQ	8.0	2.0	unscreened	-	3713_7:100211216-100211216 C>T_AEGRVVGRKDITFILRAPAYPLELQ
12:121712208-121712208 G>A	1.0	3713	MELANOMA	-	-	-	-	CAMKK2	NM_172226,p.S41L|uc001tzt.3,p.S41L|uc001uaa.2,p.S41L|uc001tzx.3,p.S41L|ENST00000392473,p.S41L|uc001uab.3,p.S41L|ENST00000392474,p.S41L|NM_001270486,p.S41L|NM_172215,p.S41L|uc001tzy.3,p.S41L|ENST00000347034,p.S41L|ENST00000412367,p.S41L|uc001uad.2,p.S41L|ENST00000538733,p.S41L|uc001tzu.3,p.S41L|ENST00000337174,p.S41L|ENST00000543477,p.S41L|ENST00000402834,p.S41L|NM_001270485,p.S41L|uc001uac.3,p.S41L|uc001tzw.3,p.S41L|uc001tzv.3,p.S41L|ENST00000404169,p.S41L|NM_172214,p.S41L|ENST00000544485,p.S41L|NM_153500,p.S41L|ENST00000446440,p.S41L|NM_172216,p.S41L|ENST00000324774,p.S41L|NM_006549,p.S41L|NM_153499,p.S41L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uad.2	nonsynonymous SNV	exon3	c.C122T	p.S41L	ESQKPCEALRGLSSLSIHLGMESFI	ESQKPCEALRGLLSLSIHLGMESFI	8.0	6.0	-	-	3713_12:121712208-121712208 G>A_ESQKPCEALRGLLSLSIHLGMESFI
16:2127682-2127682 C>T	1.0	3713	MELANOMA	-	-	-	1	TSC2	NM_000548,p.A974V|uc002con.3,p.A974V|NM_001114382,p.A974V|uc010bsd.3,p.A974V|ENST00000350773,p.A974V|ENST00000219476,p.A974V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bsd.3	nonsynonymous SNV	exon26	c.C2921T	p.A974V	PVKEFKESSAAEAFRCRSISVSEHV	PVKEFKESSAAEVFRCRSISVSEHV	9.0	7.0	-	-	3713_16:2127682-2127682 C>T_PVKEFKESSAAEVFRCRSISVSEHV
14:53009170-53009170 A>T	1.0	3713	MELANOMA	-	-	-	-	TXNDC16	NM_020784,p.D54E|uc010tqu.2,p.D54E|ENST00000281741,p.D54E|uc001wzs.3,p.D54E|NM_001160047,p.D54E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tqu.2	nonsynonymous SNV	exon4	c.T162A	p.D54E	PGKASLAYFCQADSPRTSVFLEELN	PGKASLAYFCQAESPRTSVFLEELN	5.0	1.0	unscreened	-	3713_14:53009170-53009170 A>T_PGKASLAYFCQAESPRTSVFLEELN
10:127414358-127414358 C>T	1.0	3713	MELANOMA	-	-	ID=COSM1703224,COSM1703225;OCCURENCE=1(skin)	-	EDRF1	uc001lin.3,p.P248L|ENST00000356792,p.P248L|ENST00000337623,p.P248L|uc001liq.1,p.P248L|NM_015608,p.P248L|uc001lio.1,p.P248L|ENST00000368815,p.P248L|ENST00000481600,p.P248L|ENST00000419769,p.P248L|NM_001202438,p.P248L	retained_intron, protein_coding, nonsense_mediated_decay	uc001liq.1	nonsynonymous SNV	exon6	c.C743T	p.P248L	QTNDSEGASWPAPFEMPSSVSEDPS	QTNDSEGASWPALFEMPSSVSEDPS	6.0	9.0	unscreened	-	3713_10:127414358-127414358 C>T_QTNDSEGASWPALFEMPSSVSEDPS
12:50042899-50042899 G>A	1.0	3713	MELANOMA	-	-	-	-	FMNL3	ENST00000335154,p.H810Y|ENST00000293590,p.H810Y|uc001ruu.1,p.H660Y|NM_198900,p.H759Y|uc001rut.1,p.H376Y|ENST00000352151,p.H759Y|ENST00000550488,p.H810Y|NM_175736,p.H810Y|uc001ruv.1,p.H810Y|uc001ruw.1,p.H759Y	retained_intron, protein_coding, processed_transcript	uc001ruw.1	nonsynonymous SNV	exon20	c.C2275T	p.H759Y	DTKSTDRKMTLLHFIALTVKEKYPD	DTKSTDRKMTLLYFIALTVKEKYPD	7.0	6.0	-	-	3713_12:50042899-50042899 G>A_DTKSTDRKMTLLYFIALTVKEKYPD
5:179271225-179271225 G>A	1.0	3713	MELANOMA	-	-	-	-	C5orf45	uc003mky.2,p.S70F|ENST00000292586,p.S73F|NM_016175,p.S73F|uc003mla.3,p.S73F|ENST00000518235,p.S73F|uc011dgt.1,p.S73F|ENST00000521333,p.S73F|ENST00000403396,p.S115F|ENST00000518219,p.S73F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dgt.1	nonsynonymous SNV	exon4	c.C218T	p.S73F	LLQGQVSELPLRSLEETVSASEEEN	LLQGQVSELPLRFLEETVSASEEEN	10.0	8.0	-	-	3713_5:179271225-179271225 G>A_LLQGQVSELPLRFLEETVSASEEEN
1:202985185-202985185 C>T	1.0	3713	MELANOMA	-	-	-	-	TMEM183A,TMEM183B	ENST00000367242,p.H209Y|uc009xai.1,p.H209Y|NM_138391,p.H209Y|uc001gyw.1,p.H208Y	retained_intron, protein_coding, processed_transcript	uc009xai.1	nonsynonymous SNV	exon5	c.C625T	p.H209Y	RCLRACVIRSLYHMYEPFAARISKN	RCLRACVIRSLYYMYEPFAARISKN	8.0	4.0	unscreened	-	3713_1:202985185-202985185 C>T_RCLRACVIRSLYYMYEPFAARISKN
1:202985185-202985185 C>T	1.0	3713	MELANOMA	-	-	-	-	TMEM183A,TMEM183B	uc001gyu.1,p.H209Y|NM_001079809,p.H209Y	retained_intron, protein_coding, processed_transcript	uc001gyu.1	nonsynonymous SNV	exon5	c.C625T	p.H209Y	HCLRACVIRSLYHMYEPFAARISKN	HCLRACVIRSLYYMYEPFAARISKN	8.0	4.0	unscreened	-	3713_1:202985185-202985185 C>T_HCLRACVIRSLYYMYEPFAARISKN
1:25683335-25683335 T>A	1.0	3713	MELANOMA	-	-	-	-	TMEM50A	NM_014313,p.I140N|ENST00000374358,p.I140N|uc001bke.3,p.I140N|uc010oeq.2,p.I109N	protein_coding, processed_transcript	uc010oeq.2	nonsynonymous SNV	exon5	c.T326A	p.I109N	YPGIAVFFQNAFIFFGGLVFKFGRT	YPGIAVFFQNAFNFFGGLVFKFGRT	10.0	4.0	unscreened	-	3713_1:25683335-25683335 T>A_YPGIAVFFQNAFNFFGGLVFKFGRT
2:39090506-39090506 G>A	1.0	3713	MELANOMA	-	-	-	-	DHX57	NM_198963,p.S127F|uc002rrf.3,p.S127F|uc002rrg.3,p.S127F|ENST00000417233,p.S25F|ENST00000457308,p.S25F|ENST00000295373,p.S127F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002rrg.3	nonsynonymous SNV	exon3	c.C380T	p.S127F	LRDLQEQDADAGSERGLSGEEEDDE	LRDLQEQDADAGFERGLSGEEEDDE	6.0	8.0	-	-	3713_2:39090506-39090506 G>A_LRDLQEQDADAGFERGLSGEEEDDE
22:38121888-38121888 C>T	1.0	3713	MELANOMA	-	-	-	-	TRIOBP	uc003atq.1,p.P1109S|uc003atr.3,p.P1109S|uc003ats.1,p.P937S|ENST00000406386,p.P1109S|NM_001039141,p.P1109S|uc003atu.3,p.P937S	retained_intron, protein_coding, nonsense_mediated_decay	uc003atu.3	nonsynonymous SNV	exon5	c.C2809T	p.P937S	QCQSPQHEPLQLPAPVCIGYRDAPR	QCQSPQHEPLQLSAPVCIGYRDAPR	10.0	5.0	-	-	3713_22:38121888-38121888 C>T_QCQSPQHEPLQLSAPVCIGYRDAPR
3:133375559-133375559 G>A	1.0	3713	MELANOMA	-	-	-	-	TOPBP1	NM_007027,p.P169L|uc003eps.3,p.P169L|ENST00000260810,p.P169L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003eps.3	nonsynonymous SNV	exon5	c.C506T	p.P169L	LVAANLKKPILLPSWIKTLWEKSQE	LVAANLKKPILLLSWIKTLWEKSQE	8.0	3.0	-	-	3713_3:133375559-133375559 G>A_LVAANLKKPILLLSWIKTLWEKSQE
6:35565053-35565053 C>T	1.0	3713	MELANOMA	-	-	-	-	FKBP5	ENST00000357266,p.E213K|uc003oky.2,p.E213K|NM_004117,p.E213K|uc003okx.2,p.E213K|uc011dtf.1,p.E34K|ENST00000540787,p.E34K|ENST00000539068,p.E213K|NM_001145776,p.E213K|ENST00000536438,p.E213K|uc011dte.1,p.E213K|NM_001145775,p.E213K	protein_coding	uc011dtf.1	nonsynonymous SNV	exon2	c.G100A	p.E34K	GIDKALEKMQREEQCILYLGPRYGF	GIDKALEKMQREKQCILYLGPRYGF	10.0	7.0	-	-	3713_6:35565053-35565053 C>T_GIDKALEKMQREKQCILYLGPRYGF
1:22178331-22178331 G>A	1.0	3713	MELANOMA	-	-	-	-	HSPG2	uc001bfj.3,p.S2320F|NM_005529,p.S2320F|NM_001291860,p.S2321F|uc009vqd.3,p.S2321F|ENST00000374695,p.S2320F	protein_coding, processed_transcript, nonsense_mediated_decay	uc009vqd.3	nonsynonymous SNV	exon54	c.C6962T	p.S2321F	QYVCRASNGMEASITVTVTGTQGAN	QYVCRASNGMEAFITVTVTGTQGAN	10.0	3.0	-	-	3713_1:22178331-22178331 G>A_QYVCRASNGMEAFITVTVTGTQGAN
5:118829569-118829569 C>T	1.0	3713	MELANOMA	-	-	-	-	HSD17B4	ENST00000513628,p.P129S|uc011cwj.2,p.P119S|NM_001199292,p.P248S|ENST00000504811,p.P291S|uc003ksj.3,p.P266S|uc003ksk.4,p.P119S|uc011cwi.2,p.P291S|NM_001199291,p.P291S|uc011cwg.2,p.P242S|ENST00000414835,p.P126S|ENST00000510025,p.P242S|uc011cwh.2,p.P248S|ENST00000442060,p.P266S|NM_001292027,p.P242S|ENST00000515320,p.P248S|NM_001292028,p.P126S|ENST00000256216,p.P266S|NM_000414,p.P266S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cwj.2	nonsynonymous SNV	exon6	c.C355T	p.P119S	GAIVRQKNHPMTPEAVKANWKKICD	GAIVRQKNHPMTSEAVKANWKKICD	10.0	8.0	-	-	3713_5:118829569-118829569 C>T_GAIVRQKNHPMTSEAVKANWKKICD
14:64518903-64518903 C>T	1.0	3713	MELANOMA	-	-	-	-	SYNE2	NM_182914,p.P2758S|uc021ruh.1,p.P2791S|ENST00000554584,p.P2791S|ENST00000358025,p.P2758S|NM_015180,p.P2758S|uc001xgm.3,p.P2758S|ENST00000344113,p.P2758S|uc001xgl.3,p.P2758S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ruh.1	nonsynonymous SNV	exon48	c.C8371T	p.P2791S	LLGELNPSIPLLPDDILSQIRKCKV	LLGELNPSIPLLSDDILSQIRKCKV	10.0	9.0	-	-	3713_14:64518903-64518903 C>T_LLGELNPSIPLLSDDILSQIRKCKV
2:219617591-219617591 C>T	1.0	3713	MELANOMA	-	-	-	-	TTLL4	uc010zkm.1,p.P231S|NM_014640,p.P1028S|uc010zkl.1,p.P863S|uc010fvx.3,p.P964S|ENST00000457313,p.P863S|ENST00000392102,p.P1028S|ENST00000258398,p.P1028S|ENST00000442769,p.P964S|uc002viy.3,p.P1028S	retained_intron, protein_coding, nonsense_mediated_decay	uc010zkm.1	nonsynonymous SNV	exon10	c.C691T	p.P231S	EFSRRGQFERIFPSHISSRYLRFFE	EFSRRGQFERIFSSHISSRYLRFFE	8.0	4.0	-	-	3713_2:219617591-219617591 C>T_EFSRRGQFERIFSSHISSRYLRFFE
20:46291858-46291858 T>C	0.0	3713	MELANOMA	-	-	-	-	SULF2	ENST00000361612,p.T776A|NM_198596,p.T776A|NM_018837,p.T776A|ENST00000467815,p.T776A|uc010zyd.2,p.T55A|ENST00000359930,p.T776A|uc002xtq.3,p.T776A|uc002xtr.3,p.T776A|ENST00000484875,p.T776A|uc002xto.3,p.T776A|NM_001161841,p.T776A	retained_intron, protein_coding, processed_transcript	uc010zyd.2	nonsynonymous SNV	exon4	c.A163G	p.T55A	NETHNFLFCEFATGFLEYFDLNTDP	NETHNFLFCEFAAGFLEYFDLNTDP	7.0	6.0	unscreened	-	3713_20:46291858-46291858 T>C_NETHNFLFCEFAAGFLEYFDLNTDP
1:172411509-172411509 A>T	1.0	3713	MELANOMA	-	-	-	-	PIGC	uc001gin.3,p.L85H|ENST00000344529,p.L85H|uc021pey.1,p.L85H|NM_153747,p.L85H|ENST00000367728,p.L85H|NM_002642,p.L85H|uc001gio.3,p.L85H|ENST00000258324,p.L85H	protein_coding, processed_transcript	uc021pey.1	nonsynonymous SNV	exon1	c.T254A	p.L85H	WYMDEGLLAPHWLLGTGLASSLIGY	WYMDEGLLAPHWHLGTGLASSLIGY	8.0	4.0	unscreened	-	3713_1:172411509-172411509 A>T_WYMDEGLLAPHWHLGTGLASSLIGY
12:57987901-57987901 C>T	1.0	3713	MELANOMA	-	-	-	-	PIP4K2C	ENST00000540759,p.H90Y|ENST00000550095,p.H90Y|ENST00000422156,p.H90Y|uc001sou.3,p.H90Y|NM_001146260,p.H90Y|NM_024779,p.H90Y|ENST00000354947,p.H90Y|uc001sot.3,p.H90Y|uc010srt.2,p.H90Y|NM_001146258,p.H90Y|ENST00000551772,p.H69Y	protein_coding, nonsense_mediated_decay	uc010srt.2	nonsynonymous SNV	exon2	c.C268T	p.H90Y	ASSKIKVNNHLFHRENLPSHFKFKE	ASSKIKVNNHLFYRENLPSHFKFKE	7.0	5.0	-	-	3713_12:57987901-57987901 C>T_ASSKIKVNNHLFYRENLPSHFKFKE
16:24808890-24808890 C>T	1.0	3713	MELANOMA	-	-	-	-	TNRC6A	ENST00000315183,p.S1214L|ENST00000395799,p.S1214L|uc002dmo.3,p.S902L|uc002dmm.3,p.S1214L|uc002dmn.3,p.S961L|ENST00000450465,p.S207L|uc010bxs.3,p.S961L|NM_014494,p.S1214L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bxs.3	nonsynonymous SNV	exon7	c.C2882T	p.S961L	NPFVKQFSNISFSRDSPEENVQSNK	NPFVKQFSNISFLRDSPEENVQSNK	9.0	3.0	-	-	3713_16:24808890-24808890 C>T_NPFVKQFSNISFLRDSPEENVQSNK
2:75720534-75720534 G>A	1.0	3713	MELANOMA	-	-	ID=COSM139388;OCCURENCE=1(skin)	-	EVA1A	NM_032181,p.S96F|ENST00000233712,p.S96F|uc002snj.1,p.S83F|ENST00000432649,p.S96F|ENST00000410010,p.S84F|NM_001135032,p.S96F|ENST00000393913,p.S96F|ENST00000410071,p.S96F|uc002snk.1,p.S96F|ENST00000410113,p.S96F|uc002sni.2,p.S96F	protein_coding, processed_transcript	uc002snk.1	nonsynonymous SNV	exon4	c.C287T	p.S96F	SEDGSEDTVSDLSVRRHRRFERTLN	SEDGSEDTVSDLFVRRHRRFERTLN	9.0	4.0	-	-	3713_2:75720534-75720534 G>A_SEDGSEDTVSDLFVRRHRRFERTLN
1:155207256-155207256 G>A	1.0	3713	MELANOMA	-	-	-	-	GBA	ENST00000428024,p.P205L|uc001fjk.3,p.P292L|uc001fjh.3,p.P292L|NM_001005742,p.P292L|NM_001005741,p.P292L|NM_001171812,p.P243L|NM_001171811,p.P205L|uc010pfy.2,p.P205L|ENST00000536770,p.P179L|uc009wqk.2,p.P205L|uc010pfx.2,p.P243L|uc001fjl.3,p.P292L|ENST00000368373,p.P292L|ENST00000327247,p.P292L|NM_000157,p.P292L|uc010pfw.2,p.P179L|ENST00000427500,p.P243L	protein_coding, processed_transcript	uc010pfy.2	nonsynonymous SNV	exon6	c.C614T	p.P205L	LSGYPFQCLGFTPEHQRDFIARDLG	LSGYPFQCLGFTLEHQRDFIARDLG	8.0	4.0	-	-	3713_1:155207256-155207256 G>A_LSGYPFQCLGFTLEHQRDFIARDLG
2:209165733-209165733 C>T	1.0	3713	MELANOMA	-	-	ID=COSM1669703;OCCURENCE=1(large_intestine)	-	PIKFYVE	NM_152671,p.R278C|NM_015040,p.R375C|NM_001178000,p.R375C|uc002vcy.1,p.R375C|ENST00000452564,p.R375C|uc002vcx.3,p.R289C|uc002vcw.3,p.R375C|uc002vcv.3,p.R278C|ENST00000392202,p.R278C|uc002vcz.3,p.R375C|ENST00000308862,p.R289C|uc010fun.1,p.R56C|ENST00000407449,p.R375C|ENST00000264380,p.R375C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fun.1	nonsynonymous SNV	exon8	c.C166T	p.R56C	CHHSSGMEFQDHRYWLRTHPNCIVG	CHHSSGMEFQDHCYWLRTHPNCIVG	6.0	10.0	-	-	3713_2:209165733-209165733 C>T_CHHSSGMEFQDHCYWLRTHPNCIVG
16:11001928-11001928 C>T	1.0	3713	MELANOMA	-	-	-	1	CIITA	uc002daj.4,p.S861F|NM_000246,p.S860F|uc002dag.2,p.S860F|NM_001286402,p.S861F|uc002dai.4,p.S860F|uc002dah.2,p.S812F|ENST00000324288,p.S860F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002daj.4	nonsynonymous SNV	exon11	c.C2582T	p.S861F	LGKALEAAGQDFSLDLRSTGICPSG	LGKALEAAGQDFFLDLRSTGICPSG	10.0	8.0	unscreened	-	3713_16:11001928-11001928 C>T_LGKALEAAGQDFFLDLRSTGICPSG
X:138880883-138880883 G>A	1.0	3713	MELANOMA	-	-	-	-	ATP11C	ENST00000327569,p.L247F|ENST00000370543,p.L247F|uc004fba.3,p.L247F|ENST00000361648,p.L247F|NM_173694,p.L247F|uc004faz.3,p.L247F|ENST00000359686,p.L247F|ENST00000370557,p.L244F|NM_001010986,p.L247F	protein_coding, processed_transcript	uc004fba.3	nonsynonymous SNV	exon9	c.C739T	p.L247F	LEAVARSLGPENLLLKGATLKNTEK	LEAVARSLGPENFLLKGATLKNTEK	7.0	10.0	unscreened	-	3713_X:138880883-138880883 G>A_LEAVARSLGPENFLLKGATLKNTEK
18:51795974-51795974 G>A	1.0	3713	MELANOMA	-	-	-	-	POLI	uc010xds.2,p.D20N|NM_007195,p.D20N|ENST00000579534,p.D20N|ENST00000406285,p.D20N|uc002lfj.4,p.D20N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xds.2	nonsynonymous SNV	exon1	c.G58A	p.D20N	PEEEGGGDDDEEDAEAWAMELADVG	PEEEGGGDDDEENAEAWAMELADVG	9.0	4.0	unscreened	-	3713_18:51795974-51795974 G>A_PEEEGGGDDDEENAEAWAMELADVG
15:44615185-44615185 C>T	1.0	3713	MELANOMA	-	-	-	-	CASC4	ENST00000299957,p.S117L|ENST00000557945,p.S117L|uc001ztp.3,p.S117L|NM_138423,p.S117L|NM_177974,p.S117L|ENST00000360824,p.S117L|uc001ztq.3,p.S117L|ENST00000345795,p.S117L|uc001zto.2,p.S117L	protein_coding, processed_transcript, nonsense_mediated_decay	uc001ztq.3	nonsynonymous SNV	exon2	c.C350T	p.S117L	CEDDKVKLQNNISYQMADIHHLKEQ	CEDDKVKLQNNILYQMADIHHLKEQ	9.0	8.0	-	-	3713_15:44615185-44615185 C>T_CEDDKVKLQNNILYQMADIHHLKEQ
6:4056580-4056580 A>G	1.0	3713	MELANOMA	-	-	-	-	PRPF4B	NM_003913,p.K831R|ENST00000480058,p.K831R|uc003mvv.3,p.K831R|ENST00000481109,p.K411R|ENST00000538861,p.K817R|ENST00000337659,p.K831R	protein_coding, processed_transcript, nonsense_mediated_decay	uc003mvv.3	nonsynonymous SNV	exon12	c.A2492G	p.K831R	DNILVNESKTILKLCDFGSASHVAD	DNILVNESKTILRLCDFGSASHVAD	10.0	2.0	unscreened	-	3713_6:4056580-4056580 A>G_DNILVNESKTILRLCDFGSASHVAD
16:84914150-84914150 C>T	1.0	3713	MELANOMA	-	-	-	-	CRISPLD2	uc002fin.4,p.S422F|ENST00000262424,p.S422F|ENST00000567845,p.S421F|NM_031476,p.S422F|uc010voh.1,p.S422F|ENST00000564567,p.S422F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010voh.1	nonsynonymous SNV	exon13	c.C1265T	p.S422F	RIHCPAHCKDEPSYWAPVFGTNIYA	RIHCPAHCKDEPFYWAPVFGTNIYA	6.0	7.0	-	-	3713_16:84914150-84914150 C>T_RIHCPAHCKDEPFYWAPVFGTNIYA
12:7171672-7171672 C>T	1.0	3713	MELANOMA	-	-	-	-	C1S	uc001qsl.3,p.H165Y|uc001qsj.3,p.H165Y|ENST00000406697,p.H165Y|ENST00000328916,p.H165Y|uc001qsk.3,p.H165Y|ENST00000360817,p.H165Y|NM_201442,p.H165Y|NM_001734,p.H165Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001qsl.3	nonsynonymous SNV	exon5	c.C493T	p.H165Y	GYFCSCPPEYFLHDDMKNCGVNCSG	GYFCSCPPEYFLYDDMKNCGVNCSG	10.0	9.0	-	-	3713_12:7171672-7171672 C>T_GYFCSCPPEYFLYDDMKNCGVNCSG
1:9801223-9801223 G>A	1.0	3713	MELANOMA	-	-	ID=COSM415207;OCCURENCE=1(urinary_tract)	-	CLSTN1	uc001aqh.3,p.S483F|ENST00000435891,p.S303F|ENST00000377298,p.S483F|uc010oag.2,p.S483F|ENST00000377288,p.S483F|uc001aqi.3,p.S473F|NM_014944,p.S473F|ENST00000361311,p.S473F|NM_001009566,p.S483F	protein_coding, processed_transcript	uc010oag.2	nonsynonymous SNV	exon10	c.C1448T	p.S483F	TLYVDGTSHEPFSVTEDYPLHPSKI	TLYVDGTSHEPFFVTEDYPLHPSKI	9.0	1.0	-	-	3713_1:9801223-9801223 G>A_TLYVDGTSHEPFFVTEDYPLHPSKI
6:28872185-28872185 G>A	1.0	3713	MELANOMA	-	-	-	1	TRIM27	ENST00000377199,p.P402S|uc003nlr.3,p.P402S|NM_006510,p.P402S	retained_intron, protein_coding, processed_transcript	uc003nlr.3	nonsynonymous SNV	exon8	c.C1204T	p.P402S	DSVCRKGGVTSAPQNGFWAVSLWYG	DSVCRKGGVTSASQNGFWAVSLWYG	9.0	1.0	unscreened	-	3713_6:28872185-28872185 G>A_DSVCRKGGVTSASQNGFWAVSLWYG
7:138968617-138968617 C>T	1.0	3713	MELANOMA	-	-	-	-	UBN2	uc011kqr.2,p.P989L|NM_173569,p.P989L|ENST00000288561,p.P906L|ENST00000473989,p.P989L	protein_coding	uc011kqr.2	nonsynonymous SNV	exon15	c.C2966T	p.P989L	PLMYRLPLSTPSPGNGSQGSHPLVS	PLMYRLPLSTPSLGNGSQGSHPLVS	7.0	3.0	-	-	3713_7:138968617-138968617 C>T_PLMYRLPLSTPSLGNGSQGSHPLVS
15:41535904-41535904 C>T	1.0	3713	MELANOMA	-	-	-	-	CHP1	ENST00000334660,p.T36I|ENST00000560784,p.T36I|uc001znl.3,p.T36I|ENST00000560397,p.T36I|ENST00000392151,p.T36I|NM_007236,p.T36I	protein_coding, processed_transcript, nonsense_mediated_decay	uc001znl.3	nonsynonymous SNV	exon2	c.C107T	p.T36I	SHSQITRLYSRFTSLDKGENGTLSR	SHSQITRLYSRFISLDKGENGTLSR	9.0	4.0	unscreened	-	3713_15:41535904-41535904 C>T_SHSQITRLYSRFISLDKGENGTLSR
18:33780151-33780151 C>T	1.0	3713	MELANOMA	-	-	-	-	MOCOS	ENST00000261326,p.P269S|NM_017947,p.P269S|uc002kzq.4,p.P269S	protein_coding, processed_transcript	uc002kzq.4	nonsynonymous SNV	exon4	c.C805T	p.P269S	FVPISFYKIFGFPTGLGALLVHNRA	FVPISFYKIFGFSTGLGALLVHNRA	9.0	5.0	-	-	3713_18:33780151-33780151 C>T_FVPISFYKIFGFSTGLGALLVHNRA
1:156449443-156449443 G>A	1.0	3713	MELANOMA	-	-	-	-	MEF2D	ENST00000340875,p.P180L|NM_001271629,p.P181L|uc001fpc.4,p.P181L|ENST00000454816,p.P180L|ENST00000353795,p.P135L|ENST00000360595,p.P181L|uc001fpe.2,p.P181L|uc001fpb.4,p.P181L|uc001fpd.4,p.P181L|ENST00000348159,p.P181L|NM_005920,p.P181L|ENST00000368240,p.P181L	protein_coding, processed_transcript	uc001fpe.2	nonsynonymous SNV	exon5	c.C542T	p.P181L	VTSSLTDPRLLSPQQPALQRNSVSP	VTSSLTDPRLLSLQQPALQRNSVSP	7.0	8.0	unscreened	-	3713_1:156449443-156449443 G>A_VTSSLTDPRLLSLQQPALQRNSVSP
2:97217145-97217145 C>T	1.0	3713	MELANOMA	-	-	-	-	ARID5A	uc002swe.3,p.L294F|ENST00000454558,p.L226F|uc010yuq.2,p.L242F|uc002swg.3,p.L242F|uc002swf.3,p.L130F|ENST00000357485,p.L294F|NM_212481,p.L294F|uc031ron.1,p.L226F	retained_intron, protein_coding, nonsense_mediated_decay	uc031ron.1	nonsynonymous SNV	exon7	c.C676T	p.L226F	HGAEPQASPAVHLPESPQSPKGLTE	HGAEPQASPAVHFPESPQSPKGLTE	7.0	10.0	unscreened	-	3713_2:97217145-97217145 C>T_HGAEPQASPAVHFPESPQSPKGLTE
1:225592112-225592112 G>A	1.0	3713	MELANOMA	-	-	-	-	LBR	NM_002296,p.P561S|NM_194442,p.P561S|ENST00000272163,p.P561S|uc001hoy.3,p.P561S|ENST00000338179,p.P561S|uc001hoz.3,p.P561S	protein_coding, processed_transcript	uc001hoz.3	nonsynonymous SNV	exon13	c.C1681T	p.P561S	LGDLIMALAWSLPCGFNHILPYFYI	LGDLIMALAWSLSCGFNHILPYFYI	7.0	6.0	-	-	3713_1:225592112-225592112 G>A_LGDLIMALAWSLSCGFNHILPYFYI
1:154221812-154221812 C>T	1.0	3713	MELANOMA	-	-	-	-	UBAP2L	ENST00000428931,p.A371V|ENST00000343815,p.A371V|uc009wot.3,p.A371V|uc010pek.2,p.A363V|ENST00000361546,p.A371V|ENST00000271877,p.A382V|uc001fep.4,p.A371V|NM_001287816,p.A382V|uc010pen.2,p.A285V|NM_001287815,p.A364V|uc010pel.2,p.A381V|NM_001127320,p.A371V|NM_014847,p.A371V	protein_coding, processed_transcript	uc010pen.2	nonsynonymous SNV	exon9	c.C854T	p.A285V	GSQFLEQFKTAQALAQLAAQHSQSG	GSQFLEQFKTAQVLAQLAAQHSQSG	10.0	3.0	-	-	3713_1:154221812-154221812 C>T_GSQFLEQFKTAQVLAQLAAQHSQSG
7:140373824-140373824 C>T	1.0	3713	MELANOMA	-	-	-	-	ADCK2	uc003vvz.3,p.L232F|ENST00000072869,p.L232F|uc003vvy.1,p.L232F|NM_052853,p.L232F|ENST00000476491,p.L232F	retained_intron, protein_coding	uc003vvz.3	nonsynonymous SNV	exon1	c.C694T	p.L232F	NTAFLETDSVQRLGRASCLPPFSHT	NTAFLETDSVQRFGRASCLPPFSHT	7.0	9.0	-	-	3713_7:140373824-140373824 C>T_NTAFLETDSVQRFGRASCLPPFSHT
9:91083415-91083415 A>G	1.0	3713	MELANOMA	-	-	ID=COSM1674603;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	SPIN1	uc004apz.3,p.M162V|uc010mqk.3,p.M162V|uc004apy.3,p.M162V|uc010mqj.3,p.M162V|ENST00000541629,p.M162V|ENST00000375859,p.M162V|NM_006717,p.M162V	protein_coding, processed_transcript	uc010mqk.3	nonsynonymous SNV	exon6	c.A484G	p.M162V	EWRGMVLARAPVMNTWFYITYEKDP	EWRGMVLARAPVVNTWFYITYEKDP	9.0	8.0	-	-	3713_9:91083415-91083415 A>G_EWRGMVLARAPVVNTWFYITYEKDP
3:38168069-38168069 G>A	1.0	3713	MELANOMA	-	-	-	-	ACAA1	uc003chu.3,p.P217L|ENST00000301810,p.P217L|NM_001607,p.P250L|ENST00000450296,p.P209L|ENST00000544624,p.P98L|ENST00000333167,p.P250L|NM_001130410,p.P217L|uc003cht.3,p.P250L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003chu.3	nonsynonymous SNV	exon7	c.C650T	p.P217L	RSITVTQDEGIRPSTTMEGLAKLKP	RSITVTQDEGIRLSTTMEGLAKLKP	8.0	2.0	-	-	3713_3:38168069-38168069 G>A_RSITVTQDEGIRLSTTMEGLAKLKP
1:65313219-65313219 G>A	1.0	3713	MELANOMA	-	-	-	1	JAK1	ENST00000342505,p.S632F|NM_002227,p.S632F|uc009wam.1,p.S632F|uc001dbu.1,p.S632F	protein_coding, processed_transcript	uc009wam.1	nonsynonymous SNV	exon14	c.C1895T	p.S632F	ILKVLDPSHRDISLAFFEAASMMRQ	ILKVLDPSHRDIFLAFFEAASMMRQ	9.0	7.0	-	-	3713_1:65313219-65313219 G>A_ILKVLDPSHRDIFLAFFEAASMMRQ
13:21148598-21148598 C>T	1.0	3713	MELANOMA	-	-	-	-	IFT88	ENST00000389373,p.P25L|ENST00000537103,p.P25L|ENST00000319980,p.P34L|uc010tcq.2,p.P24L|ENST00000382778,p.P34L|uc001unj.3,p.P24L|uc001unh.3,p.P34L|NM_006531,p.P25L|uc001uni.3,p.P25L|NM_175605,p.P34L|ENST00000351808,p.P25L	protein_coding, processed_transcript	uc010tcq.2	nonsynonymous SNV	exon2	c.C71T	p.P24L	EDDLYSGYNDYNPIYDIEELENDAA	EDDLYSGYNDYNLIYDIEELENDAA	5.0	3.0	unscreened	-	3713_13:21148598-21148598 C>T_EDDLYSGYNDYNLIYDIEELENDAA
12:124497326-124497326 C>T	1.0	3713	MELANOMA	-	-	-	-	ZNF664	NM_001204298,p.S212L|ENST00000538932,p.S212L|ENST00000337815,p.S212L|NM_152437,p.S212L|uc001ugb.3,p.S212L|uc001uga.3,p.S212L|ENST00000392404,p.S212L|ENST00000539644,p.S212L|uc021rfz.1,p.S212L	retained_intron, protein_coding, processed_transcript	uc021rfz.1	nonsynonymous SNV	exon1	c.C635T	p.S212L	RCCGCGKAFSQSSSLCIHQRVHTGE	RCCGCGKAFSQSLSLCIHQRVHTGE	9.0	5.0	-	-	3713_12:124497326-124497326 C>T_RCCGCGKAFSQSLSLCIHQRVHTGE
9:75773675-75773675 C>T	1.0	3713	MELANOMA	-	-	-	-	ANXA1	ENST00000257497,p.P44L|ENST00000376911,p.P44L|uc004ajf.1,p.P44L|ENST00000415424,p.P44L|ENST00000456643,p.P55L|NM_000700,p.P44L|uc004ajg.1,p.P44L	protein_coding, processed_transcript	uc004ajg.1	nonsynonymous SNV	exon2	c.C131T	p.P44L	PGSAVSPYPTFNPSSDVAALHKAIM	PGSAVSPYPTFNLSSDVAALHKAIM	10.0	3.0	-	-	3713_9:75773675-75773675 C>T_PGSAVSPYPTFNLSSDVAALHKAIM
9:134003775-134003775 T>G	1.0	3713	MELANOMA	-	-	-	1	NUP214	NM_005085,p.L100V|ENST00000359428,p.L100V|ENST00000411637,p.L100V|uc004cah.3,p.L100V|uc004cag.3,p.L100V|uc004caf.1,p.L100V|ENST00000451030,p.L100V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004cah.3	nonsynonymous SNV	exon3	c.T298G	p.L100V	LVPMKFPIHHLALSCDNLTLSACMM	LVPMKFPIHHLAVSCDNLTLSACMM	9.0	5.0	-	-	3713_9:134003775-134003775 T>G_LVPMKFPIHHLAVSCDNLTLSACMM
13:113899523-113899523 C>T	1.0	3713	MELANOMA	-	-	-	-	CUL4A	uc021rmu.1,p.S401L|NM_001278514,p.S409L|ENST00000375440,p.S501L|ENST00000451881,p.S401L|uc010agu.3,p.S362L|NM_003589,p.S401L|uc021rmv.1,p.S501L|NM_001278513,p.S401L|ENST00000375441,p.S401L|ENST00000326335,p.S401L|NM_001008895,p.S501L|uc010tjz.2,p.S180L	protein_coding, processed_transcript	uc021rmv.1	nonsynonymous SNV	exon14	c.C1502T	p.S501L	SKLEGMFKDMELSKDIMVHFKQHMQ	SKLEGMFKDMELLKDIMVHFKQHMQ	9.0	3.0	-	-	3713_13:113899523-113899523 C>T_SKLEGMFKDMELLKDIMVHFKQHMQ
5:70341329-70341329 G>A	1.0	3713	MELANOMA	-	-	-	-	GTF2H2	uc003kau.4,p.P255S|ENST00000425596,p.P198S|NM_001515,p.P255S|ENST00000330280,p.P255S|ENST00000274400,p.P255S|uc003kav.4,p.P255S|uc011crt.2,p.P198S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011crt.2	nonsynonymous SNV	exon11	c.C592T	p.P198S	SSSECSLIRMGFPQHTIASLSDQDA	SSSECSLIRMGFSQHTIASLSDQDA	8.0	1.0	unscreened	-	3713_5:70341329-70341329 G>A_SSSECSLIRMGFSQHTIASLSDQDA
3:145914466-145914466 G>A	1.0	3713	MELANOMA	-	-	ID=COSM1221235;OCCURENCE=1(large_intestine)	-	PLSCR4	uc003evu.4,p.R142C|NM_001128304,p.R247C|uc010hva.3,p.R157C|NM_001128306,p.R157C|NM_001128305,p.R247C|uc010huy.3,p.R247C|ENST00000493382,p.R247C|NM_001177304,p.R142C|NM_020353,p.R247C|ENST00000460350,p.R247C|ENST00000446574,p.R247C|ENST00000433593,p.R142C|ENST00000354952,p.R247C|uc003evt.4,p.R247C|ENST00000383083,p.R157C|uc010huz.3,p.R247C	retained_intron, protein_coding	uc010hva.3	nonsynonymous SNV	exon5	c.C469T	p.R157C	IQNEKKENVMRVRGPCSTYGCGSDS	IQNEKKENVMRVCGPCSTYGCGSDS	6.0	3.0	CD8	-	3713_3:145914466-145914466 G>A_IQNEKKENVMRVCGPCSTYGCGSDS
1:179013115-179013115 A>T	1.0	3713	MELANOMA	-	-	-	-	FAM20B	ENST00000263733,p.M45L|ENST00000440702,p.M45L|NM_014864,p.M45L|uc001gmc.3,p.M45L	protein_coding	uc001gmc.3	nonsynonymous SNV	exon2	c.A133T	p.M45L	ANREDQRAFHRMMTGLRVELAPKLD	ANREDQRAFHRMLTGLRVELAPKLD	8.0	7.0	-	-	3713_1:179013115-179013115 A>T_ANREDQRAFHRMLTGLRVELAPKLD
6:39838149-39838149 G>A	1.0	3713	MELANOMA	-	-	-	-	DAAM2	NM_001201427,p.E303K|uc003oox.3,p.E303K|uc003oow.3,p.E303K|NM_015345,p.E303K|ENST00000538976,p.E303K|uc010jxc.3,p.E303K|ENST00000398904,p.E303K|ENST00000274867,p.E303K	retained_intron, protein_coding, processed_transcript	uc010jxc.3	nonsynonymous SNV	exon8	c.G907A	p.E303K	EDNLEFRLHLRYEFLMLGIQPVIDK	EDNLEFRLHLRYKFLMLGIQPVIDK	10.0	8.0	-	-	3713_6:39838149-39838149 G>A_EDNLEFRLHLRYKFLMLGIQPVIDK
14:74766912-74766912 G>A	1.0	3713	MELANOMA	-	-	-	-	ABCD4	ENST00000356924,p.P33L|NM_005050,p.P33L|ENST00000557588,p.P33L|ENST00000470637,p.P33L|uc001xpr.2,p.P33L|ENST00000554453,p.P33L|ENST00000553486,p.P33L|ENST00000460308,p.P33L|ENST00000481935,p.P33L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xpr.2	nonsynonymous SNV	exon2	c.C98T	p.P33L	LQRFLQILKVLFPSWSSQNALMFLT	LQRFLQILKVLFLSWSSQNALMFLT	9.0	3.0	-	-	3713_14:74766912-74766912 G>A_LQRFLQILKVLFLSWSSQNALMFLT
19:2115578-2115578 G>A	1.0	3713	MELANOMA	-	-	-	-	AP3D1	ENST00000345016,p.P703L|uc002lva.4,p.P703L|ENST00000350812,p.P534L|ENST00000355272,p.P703L|uc002luz.4,p.P703L|NM_001261826,p.P703L|NM_003938,p.P703L|uc031riw.1,p.P431L|ENST00000356926,p.P612L	retained_intron, protein_coding, processed_transcript	uc031riw.1	nonsynonymous SNV	exon12	c.C1292T	p.P431L	KRYQDTPGVEHIPVVQIDLSVPLKV	KRYQDTPGVEHILVVQIDLSVPLKV	8.0	4.0	-	-	3713_19:2115578-2115578 G>A_KRYQDTPGVEHILVVQIDLSVPLKV
1:155887439-155887439 G>A	1.0	3713	MELANOMA	-	-	-	-	KIAA0907	NM_014949,p.P431S|ENST00000368320,p.P431S|ENST00000368321,p.P431S|uc001fmi.1,p.P431S|uc001fmj.1,p.P431S	protein_coding, processed_transcript	uc001fmj.1	nonsynonymous SNV	exon11	c.C1291T	p.P431S	STGQSPMGGPFIPAAPVKTALPAGP	STGQSPMGGPFISAAPVKTALPAGP	8.0	2.0	unscreened	-	3713_1:155887439-155887439 G>A_STGQSPMGGPFISAAPVKTALPAGP
15:31320676-31320676 G>A	1.0	3713	MELANOMA	-	-	-	-	TRPM1	ENST00000558445,p.P1029L|ENST00000256552,p.P1051L|NM_002420,p.P1029L|NM_001252024,p.P1051L|ENST00000558768,p.P953L|ENST00000542188,p.P1068L|uc001zfm.3,p.P1029L|uc021sia.1,p.P1068L|ENST00000397795,p.P1029L|NM_001252020,p.P1068L|uc010azy.3,p.P936L|uc021shz.1,p.P1051L	retained_intron, protein_coding, nonsense_mediated_decay	uc021sia.1	nonsynonymous SNV	exon24	c.C3203T	p.P1068L	DQIDLYAMEINPPCGENLYDEEGKR	DQIDLYAMEINPLCGENLYDEEGKR	9.0	2.0	unscreened	-	3713_15:31320676-31320676 G>A_DQIDLYAMEINPLCGENLYDEEGKR
8:87568417-87568417 C>T	1.0	3713	MELANOMA	-	-	-	-	CPNE3	ENST00000198765,p.P448S|NM_003909,p.P448S|uc003ydw.1,p.P164S|ENST00000521271,p.P448S|uc003ydv.2,p.P448S	retained_intron, protein_coding	uc003ydw.1	nonsynonymous SNV	exon6	c.C490T	p.P164S	ETRQAIVNASRLPMSIIIVGVGGAD	ETRQAIVNASRLSMSIIIVGVGGAD	8.0	2.0	-	-	3713_8:87568417-87568417 C>T_ETRQAIVNASRLSMSIIIVGVGGAD
20:60963365-60963365 G>A	1.0	3713	MELANOMA	-	-	-	-	RPS21	ENST00000450116,p.G63S|uc002ycs.3,p.G63S|ENST00000343986,p.G63S|uc002ycr.3,p.G63S|NM_001024,p.G63S	protein_coding, processed_transcript	uc002ycs.3	nonsynonymous SNV	exon5	c.G187A	p.G63S	KTYAICGAIRRMGESDDSILRLAKA	KTYAICGAIRRMSESDDSILRLAKA	9.0	7.0	-	-	3713_20:60963365-60963365 G>A_KTYAICGAIRRMSESDDSILRLAKA
11:44958855-44958855 C>T	1.0	3713	MELANOMA	-	-	-	-	TP53I11	uc031pzx.1,p.M79I|NM_001258320,p.M79I|ENST00000525138,p.M107I|ENST00000533940,p.M79I|ENST00000354556,p.M79I|NM_001258323,p.M79I|NM_006034,p.M79I|uc031pzw.1,p.M79I|ENST00000525680,p.M79I|uc001myl.3,p.M79I|ENST00000308212,p.M79I|uc001myi.4,p.M79I|uc001mym.3,p.M26I|uc001myk.3,p.M79I|ENST00000531928,p.M79I|ENST00000533443,p.M79I|NM_001258322,p.M79I|ENST00000395648,p.M79I|NM_001258324,p.M79I|ENST00000525683,p.M79I|NM_001258321,p.M79I|ENST00000528473,p.M79I|uc031pzy.1,p.M79I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pzy.1	nonsynonymous SNV	exon4	c.G237A	p.M79I	FVSAVLFSGIAIMALAFPDQLYDAV	FVSAVLFSGIAIIALAFPDQLYDAV	6.0	4.0	unscreened	-	3713_11:44958855-44958855 C>T_FVSAVLFSGIAIIALAFPDQLYDAV
4:57830580-57830580 G>A	1.0	3713	MELANOMA	-	-	-	-	NOA1	uc003hck.3,p.S626F|NM_032313,p.S626F|ENST00000264230,p.S626F	protein_coding	uc003hck.3	nonsynonymous SNV	exon6	c.C1877T	p.S626F	LGASEAVADIKFSSAGWVSVTPNFK	LGASEAVADIKFFSAGWVSVTPNFK	5.0	5.0	-	-	3713_4:57830580-57830580 G>A_LGASEAVADIKFFSAGWVSVTPNFK
14:21822662-21822662 G>A	1.0	3713	MELANOMA	-	-	-	-	SUPT16H	ENST00000216297,p.L900F|uc001wao.2,p.L900F|NM_007192,p.L900F	retained_intron, protein_coding, nonsense_mediated_decay	uc001wao.2	nonsynonymous SNV	exon23	c.C2698T	p.L900F	SCDLKYTEGVQSLNWTKIMKTIVDD	SCDLKYTEGVQSFNWTKIMKTIVDD	10.0	2.0	-	-	3713_14:21822662-21822662 G>A_SCDLKYTEGVQSFNWTKIMKTIVDD
7:11076701-11076701 C>T	1.0	3713	MELANOMA	-	-	-	-	PHF14	uc011jxj.2,p.H370Y|uc011jxi.2,p.H370Y|ENST00000445996,p.H370Y|ENST00000403050,p.H655Y|NM_014660,p.H655Y|uc003sry.2,p.H655Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011jxj.2	nonsynonymous SNV	exon9	c.C1108T	p.H370Y	IKDKLENEQEKLHVEYNKLCESLEE	IKDKLENEQEKLYVEYNKLCESLEE	6.0	4.0	unscreened	-	3713_7:11076701-11076701 C>T_IKDKLENEQEKLYVEYNKLCESLEE
6:132271450-132271450 C>T	1.0	3713	MELANOMA	-	-	-	-	CTGF	ENST00000367976,p.V175I|uc003qcz.3,p.V175I|NM_001901,p.V175I	protein_coding	uc003qcz.3	nonsynonymous SNV	exon3	c.G523A	p.V175I	EWVCDEPKDQTVVGPALAAYRLEDT	EWVCDEPKDQTVIGPALAAYRLEDT	8.0	6.0	-	-	3713_6:132271450-132271450 C>T_EWVCDEPKDQTVIGPALAAYRLEDT
22:47058961-47058961 C>T	1.0	3713	MELANOMA	-	-	-	-	GRAMD4	uc003bhx.3,p.S164L|NM_015124,p.S164L|ENST00000406902,p.S164L|uc010had.3,p.S103L|ENST00000361034,p.S164L	protein_coding, processed_transcript	uc010had.3	nonsynonymous SNV	exon4	c.C308T	p.S103L	SNGAERRSQGLSSRLQKWFYERFGE	SNGAERRSQGLSLRLQKWFYERFGE	6.0	5.0	-	-	3713_22:47058961-47058961 C>T_SNGAERRSQGLSLRLQKWFYERFGE
13:110864223-110864223 C>T	1.0	3713	MELANOMA	-	-	-	-	COL4A1	NM_001845,p.G145E|ENST00000375820,p.G145E|uc001vqw.4,p.G145E|ENST00000543140,p.G145E	protein_coding, processed_transcript	uc001vqw.4	nonsynonymous SNV	exon7	c.G434A	p.G145E	GPLGPPGLPGFAGNPGPPGLPGMKG	GPLGPPGLPGFAENPGPPGLPGMKG	8.0	4.0	unscreened	-	3713_13:110864223-110864223 C>T_GPLGPPGLPGFAENPGPPGLPGMKG
1:52956444-52956444 G>A	1.0	3713	MELANOMA	-	-	-	-	ZCCHC11	ENST00000484723,p.H209Y|ENST00000371544,p.H450Y|ENST00000257177,p.H450Y|uc001cub.3,p.H450Y|ENST00000528642,p.H450Y|NM_015269,p.H450Y|uc001ctx.2,p.H450Y|uc009vzf.1,p.H209Y|uc009vze.1,p.H450Y|uc001cty.2,p.H450Y|NM_001009881,p.H450Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009vzf.1	nonsynonymous SNV	exon8	c.C625T	p.H209Y	KNVLYVDVESDFHAKVPVVVCRDRK	KNVLYVDVESDFYAKVPVVVCRDRK	9.0	1.0	unscreened	-	3713_1:52956444-52956444 G>A_KNVLYVDVESDFYAKVPVVVCRDRK
21:47776997-47776997 C>T	1.0	3713	MELANOMA	-	-	-	-	PCNT	NM_006031,p.S682L|uc002zji.4,p.S682L|uc002zjj.3,p.S564L|ENST00000359568,p.S682L	retained_intron, protein_coding, processed_transcript	uc002zjj.3	nonsynonymous SNV	exon13	c.C1691T	p.S564L	VLGLETEHKVQLSLLQTELKEEIEL	VLGLETEHKVQLLLLQTELKEEIEL	8.0	2.0	-	-	3713_21:47776997-47776997 C>T_VLGLETEHKVQLLLLQTELKEEIEL
3:48309639-48309639 C>T	1.0	3713	MELANOMA	-	-	-	-	ZNF589	NM_016089,p.P153L|ENST00000448461,p.P153L|uc003csl.4,p.P153L|uc010hjt.2,p.P150L|ENST00000354698,p.P153L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010hjt.2	nonsynonymous SNV	exon6	c.C449T	p.P150L	EAEDQRVEGGVRPLFWSTNERGALV	EAEDQRVEGGVRLLFWSTNERGALV	9.0	6.0	-	-	3713_3:48309639-48309639 C>T_EAEDQRVEGGVRLLFWSTNERGALV
6:31655472-31655472 G>A	1.0	3713	MELANOMA	-	-	-	-	ABHD16A	uc010jtc.2,p.S279F|uc003nvy.2,p.S498F|ENST00000395952,p.S498F|ENST00000440843,p.S465F|uc003nvx.2,p.S279F|NM_021160,p.S498F|uc011dny.2,p.S465F|NM_001177515,p.S465F|ENST00000375842,p.S279F|uc011dnz.2,p.S279F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dnz.2	nonsynonymous SNV	exon20	c.C836T	p.S279F	YSRWEVEEDWCLSVLRSYQAEHGPD	YSRWEVEEDWCLFVLRSYQAEHGPD	8.0	1.0	unscreened	-	3713_6:31655472-31655472 G>A_YSRWEVEEDWCLFVLRSYQAEHGPD
22:51007796-51007796 G>A	1.0	3713	MELANOMA	-	-	-	-	CPT1B	NM_001145134,p.L730F|uc011asb.2,p.L683F|ENST00000360719,p.L764F|NM_001145136,p.L683F|uc003bmk.4,p.L764F|NM_152246,p.L764F|ENST00000434492,p.L559F|NM_001145135,p.L764F|NM_152245,p.L764F|uc003bmp.3,p.L559F|NM_004377,p.L764F|ENST00000457250,p.L730F|NM_001145137,p.L764F|ENST00000395650,p.L764F|ENST00000405237,p.L764F|uc003bml.3,p.L764F|uc003bmo.3,p.L764F|ENST00000312108,p.L764F|uc003bmm.3,p.L764F|ENST00000440709,p.L683F|uc011asa.2,p.L730F|uc003bmn.3,p.L764F	retained_intron, protein_coding, nonsense_mediated_decay	uc011asb.2	nonsynonymous SNV	exon19	c.C2047T	p.L683F	NHIRKALLDIADLFQVPKAYS	NHIRKALLDIADFFQVPKAYS	9.0	3.0	-	-	3713_22:51007796-51007796 G>A_NHIRKALLDIADFFQVPKAYS
20:3515914-3515914 C>T	1.0	3713	MELANOMA	-	-	-	-	ATRN	NM_001207047,p.S26F|uc021vzz.1,p.S26F	protein_coding	uc021vzz.1	nonsynonymous SNV	exon2	c.C77T	p.S26F	WLQRRQLRLTGSSGFVTDGPGNYKY	WLQRRQLRLTGSFGFVTDGPGNYKY	7.0	9.0	unscreened	-	3713_20:3515914-3515914 C>T_WLQRRQLRLTGSFGFVTDGPGNYKY
17:58945948-58945948 C>T	1.0	3713	MELANOMA	-	-	-	-	BCAS3	ENST00000588462,p.P163L|ENST00000390652,p.P163L|NM_017679,p.P163L|ENST00000408905,p.P163L|uc002iyw.4,p.P159L|ENST00000589222,p.P163L|NM_001099432,p.P163L|ENST00000407086,p.P163L|uc002iyv.4,p.P163L|uc002iyu.4,p.P163L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002iyw.4	nonsynonymous SNV	exon8	c.C476T	p.P159L	VCKSIGSSGTSPPYCCVDLYSLRTG	VCKSIGSSGTSPLYCCVDLYSLRTG	8.0	9.0	-	-	3713_17:58945948-58945948 C>T_VCKSIGSSGTSPLYCCVDLYSLRTG
19:10790517-10790517 C>T	1.0	3713	MELANOMA	-	-	-	-	ILF3	ENST00000449870,p.S258F|uc002mpn.3,p.S258F|NM_001137673,p.S258F|ENST00000592763,p.S258F|ENST00000420083,p.S258F|ENST00000318511,p.S258F|ENST00000250241,p.S258F|uc002mpl.2,p.S258F|NM_004516,p.S258F|uc002mpp.3,p.S79F|uc002mpm.2,p.S258F|ENST00000590261,p.S258F|ENST00000589998,p.S258F|ENST00000407004,p.S258F|uc002mpk.2,p.S258F|ENST00000588657,p.S258F|uc002mpo.3,p.S258F|NM_153464,p.S258F|NM_017620,p.S258F|NM_012218,p.S258F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mpp.3	nonsynonymous SNV	exon4	c.C236T	p.S79F	LRGWPLELLCEKSIGTANRPMGAGE	LRGWPLELLCEKFIGTANRPMGAGE	10.0	8.0	-	-	3713_19:10790517-10790517 C>T_LRGWPLELLCEKFIGTANRPMGAGE
17:30221716-30221716 G>A	1.0	3713	MELANOMA	-	-	-	-	UTP6	uc002hgr.3,p.S87F|ENST00000261708,p.S87F|NM_018428,p.S87F|uc010wbw.1,p.S87F	retained_intron, protein_coding, processed_transcript	uc010wbw.1	nonsynonymous SNV	exon4	c.C260T	p.S87F	IGYSFKKDEIENSIVHRVQGVFQRA	IGYSFKKDEIENFIVHRVQGVFQRA	8.0	10.0	-	-	3713_17:30221716-30221716 G>A_IGYSFKKDEIENFIVHRVQGVFQRA
13:23910931-23910931 G>A	1.0	3713	MELANOMA	-	-	-	-	SACS	ENST00000382298,p.H2362Y|ENST00000382292,p.H2362Y|ENST00000402364,p.H1612Y|uc001uoo.3,p.H2215Y|NM_014363,p.H2362Y|NM_001278055,p.H2215Y|uc001uon.3,p.H2362Y	protein_coding, processed_transcript	uc001uoo.3	nonsynonymous SNV	exon8	c.C6643T	p.H2215Y	ENAYVDSEKVSFHLNFEAAPYLYQL	ENAYVDSEKVSFYLNFEAAPYLYQL	4.0	7.0	unscreened	-	3713_13:23910931-23910931 G>A_ENAYVDSEKVSFYLNFEAAPYLYQL
11:44958855-44958855 C>T	1.0	3713	MELANOMA	-	-	-	-	TP53I11	ENST00000528290,p.G60S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000528290	nonsynonymous SNV	exon3	c.G178A	p.G60S	RLCCALLRHCHHGISLIMWNALYTA	RLCCALLRHCHHSISLIMWNALYTA	6.0	4.0	-	-	3713_11:44958855-44958855 C>T_RLCCALLRHCHHSISLIMWNALYTA
7:74193642-74193642 G>A	1.0	3713	MELANOMA	-	rs201802880	-	-	NCF1	ENST00000442021,p.R97H|ENST00000289473,p.R90H|ENST00000433458,p.R90H|uc010lbs.1,p.R90H|uc003ubb.3,p.R90H	retained_intron, protein_coding, processed_transcript	uc010lbs.1	nonsynonymous SNV	exon4	c.G269A	p.R90H	PKWFDGQRAAENRQGTLTEYCGTLM	PKWFDGQRAAENHQGTLTEYCGTLM	7.0	1.0	unscreened	-	3713_7:74193642-74193642 G>A_PKWFDGQRAAENHQGTLTEYCGTLM
16:2160360-2160360 G>A	1.0	3713	MELANOMA	-	-	-	-	PKD1	NM_000296,p.S1603F|uc002cos.1,p.S1603F|NM_001009944,p.S1603F|ENST00000262304,p.S1603F|uc002cot.1,p.S1603F|ENST00000423118,p.S1603F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002cot.1	nonsynonymous SNV	exon15	c.C4808T	p.S1603F	IPGGPTISYTFRSVGTFNIIVTAEN	IPGGPTISYTFRFVGTFNIIVTAEN	10.0	3.0	unscreened	-	3713_16:2160360-2160360 G>A_IPGGPTISYTFRFVGTFNIIVTAEN
18:8798213-8798213 C>T	1.0	3713	MELANOMA	-	-	-	-	MTCL1	ENST00000306329,p.S1106F|ENST00000400050,p.S746F|uc002knr.2,p.S787F|ENST00000306285,p.S102F|uc002knq.2,p.S746F|uc002kns.2,p.S117F|ENST00000517570,p.S746F|NM_015210,p.S787F|ENST00000518815,p.S102F|ENST00000359865,p.S787F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kns.2	nonsynonymous SNV	exon3	c.C350T	p.S117F	SDRGCGFPVGEHSPHSRVQIGDHSL	SDRGCGFPVGEHFPHSRVQIGDHSL	6.0	1.0	-	-	3713_18:8798213-8798213 C>T_SDRGCGFPVGEHFPHSRVQIGDHSL
5:118860945-118860945 C>T	1.0	3713	MELANOMA	-	-	ID=COSM1696075;OCCURENCE=1(skin)	-	HSD17B4	ENST00000510025,p.P489L|ENST00000414835,p.P373L|NM_001292027,p.P489L|ENST00000256216,p.P513L|uc011cwg.2,p.P489L|uc010jcn.2,p.P251L|NM_001292028,p.P373L|uc003ksk.4,p.P366L|uc011cwh.2,p.P495L|uc011cwj.2,p.P366L|ENST00000513628,p.P376L|NM_001199291,p.P538L|ENST00000509514,p.P251L|ENST00000504811,p.P538L|NM_000414,p.P513L|ENST00000515320,p.P495L|NM_001199292,p.P495L|uc003ksj.3,p.P513L|uc011cwi.2,p.P538L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cwj.2	nonsynonymous SNV	exon13	c.C1097T	p.P366L	QAALYRLSGDWNPLHIDPNFASLAG	QAALYRLSGDWNLLHIDPNFASLAG	10.0	6.0	-	-	3713_5:118860945-118860945 C>T_QAALYRLSGDWNLLHIDPNFASLAG
X:77301952-77301952 C>T	1.0	3713	MELANOMA	-	-	-	-	ATP7A	ENST00000350425,p.S466F|ENST00000343533,p.S1385F|NM_001282224,p.S1385F|NM_000052,p.S1463F|uc004ecx.4,p.S1463F|ENST00000341514,p.S1463F	protein_coding	uc004ecx.4	nonsynonymous SNV	exon23	c.C4388T	p.S1463F	GLLDRIVNYSRASINSLLSDKRSLN	GLLDRIVNYSRAFINSLLSDKRSLN	7.0	10.0	-	-	3713_X:77301952-77301952 C>T_GLLDRIVNYSRAFINSLLSDKRSLN
12:102158720-102158720 G>A	1.0	3713	MELANOMA	-	-	-	-	GNPTAB	uc001tit.3,p.L659F|NM_024312,p.L659F|ENST00000299314,p.L659F	retained_intron, protein_coding, nonsense_mediated_decay	uc001tit.3	nonsynonymous SNV	exon13	c.C1975T	p.L659F	KGYENLVSPITLLPEAEILFEDIPK	KGYENLVSPITLFPEAEILFEDIPK	9.0	6.0	-	-	3713_12:102158720-102158720 G>A_KGYENLVSPITLFPEAEILFEDIPK
7:129764343-129764343 G>A	1.0	3713	MELANOMA	-	-	-	-	KLHDC10	ENST00000335420,p.G278S|uc003vpk.2,p.G249S|NM_014997,p.G278S|uc003vpj.2,p.G278S|uc010lmb.2,p.G175S	protein_coding, processed_transcript	uc010lmb.2	nonsynonymous SNV	exon4	c.G523A	p.G175S	AHDGQRIYILGGGTSWTAYSLNKIH	AHDGQRIYILGGSTSWTAYSLNKIH	8.0	5.0	-	-	3713_7:129764343-129764343 G>A_AHDGQRIYILGGSTSWTAYSLNKIH
9:123476329-123476329 G>A	1.0	3713	MELANOMA	-	-	-	-	MEGF9	ENST00000373930,p.T103I|ENST00000426959,p.T95I|uc022bms.1,p.T103I|uc004bkj.2,p.T95I|uc004bkk.4,p.T95I|NM_001080497,p.T103I	protein_coding	uc022bms.1	nonsynonymous SNV	exon1	c.C308T	p.T103I	LAATSPAQSPETTPLWATAGPSSTT	LAATSPAQSPETIPLWATAGPSSTT	8.0	1.0	unscreened	-	3713_9:123476329-123476329 G>A_LAATSPAQSPETIPLWATAGPSSTT
15:31320676-31320676 G>A	1.0	3713	MELANOMA	-	-	-	-	TRPM1	ENST00000559177,p.P144L	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000559177	nonsynonymous SNV	exon5	c.C431T	p.P144L	GAWIFTGGVSTAPCGENLYDEEGKR	GAWIFTGGVSTALCGENLYDEEGKR	9.0	2.0	unscreened	-	3713_15:31320676-31320676 G>A_GAWIFTGGVSTALCGENLYDEEGKR
2:74783913-74783913 C>T	1.0	3713	MELANOMA	-	-	ID=COSM1690730;OCCURENCE=1(skin)	-	DOK1	NM_001197260,p.P234L|ENST00000233668,p.P373L|ENST00000409429,p.P234L|uc002smt.3,p.P159L|uc002smu.3,p.P159L|NM_001381,p.P373L|uc010ffo.3,p.P234L|uc002smw.1,p.P159L|uc002smr.3,p.P234L|uc010yrz.2,p.P362L|uc002sms.3,p.P373L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yrz.2	nonsynonymous SNV	exon5	c.C1085T	p.P362L	IYDEPEGLAPVPPQGLYDLPREPKD	IYDEPEGLAPVPLQGLYDLPREPKD	6.0	10.0	unscreened	-	3713_2:74783913-74783913 C>T_IYDEPEGLAPVPLQGLYDLPREPKD
11:3733954-3733954 G>A	1.0	3713	MELANOMA	-	-	-	1	NUP98	ENST00000355260,p.S861F|NM_139132,p.S861F|ENST00000359171,p.S861F|uc001lyj.2,p.S861F|ENST00000397007,p.S878F|uc001lyk.2,p.S878F|uc001lyh.3,p.S861F|NM_016320,p.S861F|ENST00000397004,p.S861F|NM_005387,p.S878F|ENST00000324932,p.S861F|NM_139131,p.S861F|uc001lyi.3,p.S861F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001lyk.2	nonsynonymous SNV	exon20	c.C2633T	p.S878F	YRPETGSWVFKVSHFSKYGLQDSDE	YRPETGSWVFKVFHFSKYGLQDSDE	9.0	8.0	-	-	3713_11:3733954-3733954 G>A_YRPETGSWVFKVFHFSKYGLQDSDE
12:110427579-110427579 G>A	1.0	3713	MELANOMA	-	-	-	-	GIT2	ENST00000360185,p.A72V|uc001tpu.2,p.A72V|ENST00000356259,p.A72V|ENST00000355312,p.A72V|ENST00000320063,p.A72V|NM_139201,p.A72V|ENST00000551209,p.A72V|NM_014776,p.A72V|NM_001135214,p.A72V|uc001tpw.3,p.A72V|ENST00000338373,p.A72V|uc001tpv.2,p.A72V|ENST00000553118,p.A72V|NM_001135213,p.A72V|uc001tpt.2,p.A72V|ENST00000457474,p.A72V|NM_057170,p.A72V|uc001tps.2,p.A72V|ENST00000361006,p.A72V|ENST00000343646,p.A72V|NM_057169,p.A72V|uc010sxv.1,p.A72V|uc001tpq.2,p.A72V|ENST00000547815,p.A72V|ENST00000354574,p.A72V	retained_intron, protein_coding, processed_transcript	uc010sxv.1	nonsynonymous SNV	exon3	c.C215T	p.A72V	LLQMVETLYNNGANSIWEHSLLDPA	LLQMVETLYNNGVNSIWEHSLLDPA	9.0	6.0	-	-	3713_12:110427579-110427579 G>A_LLQMVETLYNNGVNSIWEHSLLDPA
7:99972056-99972056 G>A	1.0	3713	MELANOMA	-	-	-	-	PILRA	uc011kjn.1,p.G152S	retained_intron, protein_coding, processed_transcript	uc011kjn.1	nonsynonymous SNV	exon2	c.G454A	p.G152S	QSIEGTKLSITQGESSCPGTRFAHR	QSIEGTKLSITQSESSCPGTRFAHR	7.0	8.0	unscreened	-	3713_7:99972056-99972056 G>A_QSIEGTKLSITQSESSCPGTRFAHR
6:32713573-32713573 C>T	0.0	3713	MELANOMA	-	-	-	-	HLA-DQA2	NM_020056,p.P113S|uc003obx.3,p.P113S|ENST00000374940,p.P113S	protein_coding	uc003obx.3	nonsynonymous SNV	exon3	c.C337T	p.P113S	RQSNSTAATNEVPEVTVFSKFPVTL	RQSNSTAATNEVSEVTVFSKFPVTL	9.0	2.0	unscreened	-	3713_6:32713573-32713573 C>T_RQSNSTAATNEVSEVTVFSKFPVTL
20:3515914-3515914 C>T	1.0	3713	MELANOMA	-	-	-	-	ATRN	uc002wim.2,p.S142F|ENST00000446916,p.S142F|ENST00000262919,p.S142F|NM_139322,p.S142F|NM_139321,p.S142F|uc002wil.2,p.S142F	protein_coding	uc002wim.2	nonsynonymous SNV	exon2	c.C425T	p.S142F	QHCGGRFRLTGSSGFVTDGPGNYKY	QHCGGRFRLTGSFGFVTDGPGNYKY	7.0	9.0	-	-	3713_20:3515914-3515914 C>T_QHCGGRFRLTGSFGFVTDGPGNYKY
16:67911198-67911198 G>A	1.0	3713	MELANOMA	-	-	-	-	EDC4	uc002eur.3,p.G177D|uc010vkg.1,p.G109D|NM_014329,p.G177D|ENST00000358933,p.G177D	retained_intron, protein_coding, processed_transcript	uc010vkg.1	nonsynonymous SNV	exon5	c.G326A	p.G109D	STSERTLLKGFTGSVADLAFAHLNS	STSERTLLKGFTDSVADLAFAHLNS	7.0	9.0	-	-	3713_16:67911198-67911198 G>A_STSERTLLKGFTDSVADLAFAHLNS
5:171337597-171337597 C>T	1.0	3713	MELANOMA	-	-	-	-	FBXW11	ENST00000393802,p.D84N|ENST00000517395,p.D139N|uc003mbn.1,p.D84N|NM_033645,p.D84N|NM_033644,p.D105N|ENST00000265094,p.D118N|NM_012300,p.D118N|ENST00000296933,p.D105N|uc003mbl.1,p.D105N|uc011dey.1,p.D86N|ENST00000425623,p.D86N|uc003mbm.1,p.D118N	protein_coding, processed_transcript, nonsense_mediated_decay	uc011dey.1	nonsynonymous SNV	exon3	c.G256A	p.D86N	HINSYLKPMLQRDFITALPEQGLDH	HINSYLKPMLQRNFITALPEQGLDH	8.0	8.0	-	-	3713_5:171337597-171337597 C>T_HINSYLKPMLQRNFITALPEQGLDH
2:113950903-113950903 C>T	1.0	3713	MELANOMA	-	-	-	-	PSD4	ENST00000245796,p.S663F|NM_012455,p.S663F|uc002tjf.3,p.S284F|ENST00000441564,p.S635F|uc002tjd.3,p.S284F|uc002tje.3,p.S634F|uc002tjc.3,p.S663F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tjf.3	nonsynonymous SNV	exon6	c.C851T	p.S284F	ETQERERILYQFSRRFHHCNPGIFP	ETQERERILYQFFRRFHHCNPGIFP	6.0	7.0	unscreened	-	3713_2:113950903-113950903 C>T_ETQERERILYQFFRRFHHCNPGIFP
7:74193642-74193642 G>A	1.0	3713	MELANOMA	-	rs201802880	-	-	NCF1	NM_000265,p.R90H	retained_intron, protein_coding, processed_transcript	NM_000265	nonsynonymous SNV	exon4	c.G269A	p.R90H	PKWFDGQRAAENRQGTLTEYCSTLM	PKWFDGQRAAENHQGTLTEYCSTLM	7.0	1.0	unscreened	-	3713_7:74193642-74193642 G>A_PKWFDGQRAAENHQGTLTEYCSTLM
1:241797799-241797799 G>A	1.0	3713	MELANOMA	-	-	-	-	CHML	ENST00000366553,p.H424Y|NM_001821,p.H424Y|uc001hzd.3,p.H424Y	protein_coding	uc001hzd.3	nonsynonymous SNV	exon1	c.C1270T	p.H424Y	DKESGRCKAIIDHFGQRINAKYFIV	DKESGRCKAIIDYFGQRINAKYFIV	5.0	5.0	unscreened	-	3713_1:241797799-241797799 G>A_DKESGRCKAIIDYFGQRINAKYFIV
3:52620557-52620557 G>C	1.0	3713	MELANOMA	-	-	ID=COSM1633254,COSM1633253,COSM1633255;OCCURENCE=1(liver)	1	PBRM1	uc010hmk.1,p.P1066A|uc003det.2,p.P1106A|uc003deq.2,p.P1091A|ENST00000296302,p.P1091A|uc003dez.1,p.P1090A|uc003dew.2,p.P1091A|ENST00000337303,p.P1091A|uc003deu.2,p.P1106A|uc003des.2,p.P1091A|ENST00000423351,p.P1090A|ENST00000446103,p.P1049A|ENST00000409767,p.P1106A|ENST00000410007,p.P1066A|ENST00000394830,p.P1066A|NM_018313,p.P1066A|ENST00000409057,p.P1091A|uc003dfa.1,p.P437A|uc003der.2,p.P1059A|ENST00000356770,p.P1059A|uc003dey.2,p.P1066A|uc003dfb.1,p.P1003A|ENST00000409114,p.P1106A	retained_intron, protein_coding, nonsense_mediated_decay	uc010hmk.1	nonsynonymous SNV	exon20	c.C3196G	p.P1066A	PISSVRFVPRDVPLPVVRVASVFAN	PISSVRFVPRDVALPVVRVASVFAN	8.0	7.0	unscreened	-	3713_3:52620557-52620557 G>C_PISSVRFVPRDVALPVVRVASVFAN
1:211534455-211534455 C>T	1.0	3713	MELANOMA	-	-	-	-	TRAF5	NM_004619,p.P216L|NM_145759,p.P216L|NM_001033910,p.P216L|uc001hii.3,p.P216L|uc001hih.3,p.P216L|uc010psx.2,p.P227L|ENST00000367004,p.P216L|ENST00000336184,p.P216L|uc001hij.3,p.P216L|ENST00000261464,p.P216L	protein_coding, processed_transcript	uc010psx.2	nonsynonymous SNV	exon7	c.C680T	p.P227L	LKTEVDEHLAVCPEAEQDCPFKHYG	LKTEVDEHLAVCLEAEQDCPFKHYG	9.0	1.0	-	-	3713_1:211534455-211534455 C>T_LKTEVDEHLAVCLEAEQDCPFKHYG
3:122090574-122090574 G>A	1.0	3713	MELANOMA	-	-	-	-	CCDC58	ENST00000479899,p.S28F|uc003eey.3,p.S42F|ENST00000291458,p.S42F|NM_001017928,p.S42F	retained_intron, protein_coding, processed_transcript	uc003eey.3	nonsynonymous SNV	exon2	c.C125T	p.S42F	IVHELNTTVPTASFAGKIDASQTCK	IVHELNTTVPTAFFAGKIDASQTCK	5.0	1.0	unscreened	-	3713_3:122090574-122090574 G>A_IVHELNTTVPTAFFAGKIDASQTCK
17:73654511-73654511 G>A	1.0	3713	MELANOMA	-	-	-	-	RECQL5	ENST00000340830,p.S339F|uc002joz.4,p.S339F|ENST00000584999,p.S339F|ENST00000423245,p.S312F|NM_001003716,p.S339F|ENST00000420326,p.S339F|ENST00000578201,p.S339F|NM_004259,p.S339F|uc010dgl.3,p.S339F|ENST00000317905,p.S339F|uc010dgk.3,p.S312F|uc002jpb.2,p.S339F|NM_001003715,p.S339F|uc002jpa.4,p.S339F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dgl.3	nonsynonymous SNV	exon7	c.C1016T	p.S339F	NVRFVAHWNIAKSMAGYYQESGRAG	NVRFVAHWNIAKFMAGYYQESGRAG	10.0	7.0	-	-	3713_17:73654511-73654511 G>A_NVRFVAHWNIAKFMAGYYQESGRAG
3:93803195-93803195 C>T	1.0	3713	MELANOMA	-	-	-	-	NSUN3	uc003drl.1,p.P123S|ENST00000314622,p.P123S|NM_022072,p.P123S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003drl.1	nonsynonymous SNV	exon3	c.C367T	p.P123S	KKYYLLNAASLLPVLALELRDGEKV	KKYYLLNAASLLSVLALELRDGEKV	5.0	2.0	-	-	3713_3:93803195-93803195 C>T_KKYYLLNAASLLSVLALELRDGEKV
1:94338753-94338753 G>A	1.0	3713	MELANOMA	-	-	-	-	DNTTIP2	ENST00000359208,p.S562L	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000359208	nonsynonymous SNV	exon3	c.C1685T	p.S562L	NSTKAKLFCRKPSLHLILKKTTVFH	NSTKAKLFCRKPLLHLILKKTTVFH	10.0	7.0	unscreened	-	3713_1:94338753-94338753 G>A_NSTKAKLFCRKPLLHLILKKTTVFH
7:150499342-150499342 G>A	0.0	3713	MELANOMA	-	-	-	-	TMEM176A	ENST00000468689,p.G13R|ENST00000004103,p.G72R|ENST00000461345,p.G13R|ENST00000484928,p.G72R|ENST00000475536,p.G24R|NM_018487,p.G72R|uc003whx.1,p.G72R	retained_intron, protein_coding	uc003whx.1	nonsynonymous SNV	exon3	c.G214A	p.G72R	MQIVLGILSAVLGGFFYIRDYTLLV	MQIVLGILSAVLRGFFYIRDYTLLV	9.0	8.0	unscreened	-	3713_7:150499342-150499342 G>A_MQIVLGILSAVLRGFFYIRDYTLLV
16:2258780-2258780 C>T	1.0	3713	MELANOMA	-	-	-	-	MLST8	ENST00000569417,p.R295W|NM_001199174,p.R295W|ENST00000565250,p.R295W|uc002cpf.3,p.R295W|uc002cpb.3,p.R294W|NM_001199173,p.R295W|uc002cpe.3,p.R295W|ENST00000397124,p.R295W|ENST00000564088,p.R295W|uc010uvx.2,p.R229W|NM_001199175,p.R294W|ENST00000382450,p.R294W|uc002cpc.3,p.R295W|uc002coz.3,p.R295W|uc002cpd.3,p.R229W|NM_022372,p.R295W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uvx.2	nonsynonymous SNV	exon8	c.C685T	p.R229W	QYIVTASSDNLARLWCVETGEIKRE	QYIVTASSDNLAWLWCVETGEIKRE	8.0	2.0	-	-	3713_16:2258780-2258780 C>T_QYIVTASSDNLAWLWCVETGEIKRE
16:57073734-57073734 C>T	1.0	3713	MELANOMA	-	-	-	-	NLRC5	uc021tiv.1,p.P753L|uc021tiw.1,p.P753L|ENST00000436936,p.P948L|ENST00000308149,p.P948L|ENST00000262510,p.P948L|ENST00000543030,p.P247L|uc021tiu.1,p.P948L|ENST00000538110,p.P455L|ENST00000539144,p.P948L|ENST00000538453,p.P99L|NM_032206,p.P948L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tiw.1	nonsynonymous SNV	exon11	c.C2258T	p.P753L	QHKTVIFMFAQEPEEQKGPQERAAF	QHKTVIFMFAQELEEQKGPQERAAF	10.0	9.0	-	-	3713_16:57073734-57073734 C>T_QHKTVIFMFAQELEEQKGPQERAAF
14:24734885-24734885 T>A	1.0	3713	MELANOMA	-	-	-	-	RABGGTA	ENST00000560777,p.Q156L|NM_004581,p.Q547L|NM_182836,p.Q547L|ENST00000399409,p.Q547L|ENST00000216840,p.Q547L|uc001wof.4,p.Q547L|uc001wog.4,p.Q547L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, ambiguous_orf	uc001wog.4	nonsynonymous SNV	exon17	c.A1640T	p.Q547L	LVLLNLQGNPLCQAVGILEQLAELL	LVLLNLQGNPLCLAVGILEQLAELL	7.0	8.0	-	-	3713_14:24734885-24734885 T>A_LVLLNLQGNPLCLAVGILEQLAELL
11:68700928-68700928 C>T	1.0	3713	MELANOMA	-	-	-	-	IGHMBP2	uc001ool.1,p.S90F|NM_002180,p.S466F|ENST00000255078,p.S466F|uc001ook.1,p.S466F|uc001oom.1,p.S44F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001oom.1	nonsynonymous SNV	exon1	c.C131T	p.S44F	DTMYLGQLTAHSSVARHLLRDLPGV	DTMYLGQLTAHSFVARHLLRDLPGV	6.0	3.0	-	-	3713_11:68700928-68700928 C>T_DTMYLGQLTAHSFVARHLLRDLPGV
16:87735960-87735960 G>A	1.0	3713	MELANOMA	-	-	-	-	JPH3,KLHDC4	uc021tmj.1,p.P54L|ENST00000446344,p.P54L	protein_coding	uc021tmj.1	nonsynonymous SNV	exon1	c.C161T	p.P54L	ALPCRARPPAPAPSHPSSSLSLTPG	ALPCRARPPAPALSHPSSSLSLTPG	5.0	1.0	unscreened	-	3713_16:87735960-87735960 G>A_ALPCRARPPAPALSHPSSSLSLTPG
11:63720305-63720305 C>T	1.0	3713	MELANOMA	-	-	-	-	NAA40	ENST00000542163,p.A142V|ENST00000456907,p.A123V|NM_024771,p.A163V|ENST00000377793,p.A163V|uc010rmw.2,p.A123V|NM_001300800,p.A142V|uc010rmx.2,p.A142V|uc009yoz.3,p.A163V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rmx.2	nonsynonymous SNV	exon6	c.C425T	p.A142V	LGKFLIQILQLMANSTQMKKVMLTV	LGKFLIQILQLMVNSTQMKKVMLTV	8.0	3.0	unscreened	-	3713_11:63720305-63720305 C>T_LGKFLIQILQLMVNSTQMKKVMLTV
4:2515425-2515425 C>T	1.0	3713	MELANOMA	-	-	-	-	RNF4	ENST00000541204,p.S151F|ENST00000314289,p.S151F|uc003gfb.3,p.S151F|NM_002938,p.S151F|ENST00000502316,p.S151F|NM_001185009,p.S151F|ENST00000511600,p.S151F|ENST00000506706,p.S151F|uc003gfc.3,p.S151F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gfc.3	nonsynonymous SNV	exon9	c.C452T	p.S151F	YSEIVQNGRLIVSTECGHVFCSQCL	YSEIVQNGRLIVFTECGHVFCSQCL	8.0	5.0	-	-	3713_4:2515425-2515425 C>T_YSEIVQNGRLIVFTECGHVFCSQCL
1:161136711-161136711 C>T	1.0	3713	MELANOMA	-	-	-	-	PPOX	uc001fyj.2,p.P25L|ENST00000544598,p.P25L|uc010pkh.1,p.P25L|ENST00000367999,p.P25L|ENST00000539753,p.P25L|NM_001122764,p.P25L|NM_000309,p.P25L|ENST00000432542,p.P25L|ENST00000352210,p.P25L|uc001fyg.2,p.P25L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010pkh.1	nonsynonymous SNV	exon2	c.C74T	p.P25L	SGLAASYHLSRAPCPPKVVLVESSE	SGLAASYHLSRALCPPKVVLVESSE	9.0	5.0	unscreened	-	3713_1:161136711-161136711 C>T_SGLAASYHLSRALCPPKVVLVESSE
17:35563743-35563743 G>A	1.0	3713	MELANOMA	-	-	-	-	ACACA	uc002hnk.3,p.P1186L|NM_198836,p.P1264L|ENST00000394406,p.P1264L|uc002hnl.3,p.P1206L|NM_198834,p.P1301L|uc002hnm.3,p.P1264L|NM_198838,p.P1186L|ENST00000335166,p.P1186L|ENST00000360679,p.P1206L|NM_198839,p.P1264L|uc002hno.3,p.P1301L|ENST00000353139,p.P1301L|NM_198837,p.P1206L|uc002hnn.3,p.P1264L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay	uc002hno.3	nonsynonymous SNV	exon32	c.C3902T	p.P1301L	VMGCFSDSPPQSPTFPEAGHTSLYD	VMGCFSDSPPQSLTFPEAGHTSLYD	5.0	10.0	-	-	3713_17:35563743-35563743 G>A_VMGCFSDSPPQSLTFPEAGHTSLYD
6:143081591-143081591 G>A	1.0	3713	MELANOMA	-	-	-	-	HIVEP2	ENST00000367603,p.S1945F|ENST00000367604,p.S1945F|NM_006734,p.S1945F|uc003qjd.3,p.S1945F|ENST00000012134,p.S1945F	protein_coding, processed_transcript	uc003qjd.3	nonsynonymous SNV	exon9	c.C5834T	p.S1945F	SRSTSPQPPRFSSLPVNVGAVPHGV	SRSTSPQPPRFSFLPVNVGAVPHGV	6.0	1.0	unscreened	-	3713_6:143081591-143081591 G>A_SRSTSPQPPRFSFLPVNVGAVPHGV
1:27632755-27632755 C>T	1.0	3713	MELANOMA	-	-	-	-	WDTC1	ENST00000361771,p.P638S|NM_001276252,p.P639S|ENST00000319394,p.P639S|NM_015023,p.P638S|uc009vst.3,p.P639S|uc001bno.4,p.P638S|ENST00000472249,p.P87S	protein_coding, processed_transcript, nonsense_mediated_decay	uc009vst.3	nonsynonymous SNV	exon16	c.C1915T	p.P639S	ASQANQRRMNADPLEVMLLNMGYRI	ASQANQRRMNADSLEVMLLNMGYRI	8.0	2.0	-	-	3713_1:27632755-27632755 C>T_ASQANQRRMNADSLEVMLLNMGYRI
1:19952055-19952055 C>T	1.0	3713	MELANOMA	-	-	-	-	MINOS1	NM_001204083,p.P131L|uc021ohu.1,p.P131L	 processed_transcript,protein_coding	uc021ohu.1	nonsynonymous SNV	exon4	c.C392T	p.P131L	GTEAGSRPFPPLPGSSLSWHQS	GTEAGSRPFPPLLGSSLSWHQS	7.0	6.0	unscreened	-	3713_1:19952055-19952055 C>T_GTEAGSRPFPPLLGSSLSWHQS
9:6849697-6849697 C>T	1.0	3713	MELANOMA	-	-	-	-	KDM4C	uc003zkg.3,p.S209F|uc011lmi.1,p.S209F|NM_001146695,p.S209F|NM_001146696,p.S231F|uc010mhw.3,p.S209F|ENST00000442236,p.S28F|ENST00000381309,p.S209F|uc011lmk.2,p.S28F|ENST00000381306,p.S209F|NM_001146694,p.S209F|ENST00000543771,p.S209F|ENST00000536108,p.S28F|ENST00000535193,p.S231F|uc010mhu.2,p.S231F|NM_015061,p.S209F|uc003zkh.3,p.S209F|ENST00000438023,p.S209F	protein_coding, processed_transcript, nonsense_mediated_decay	uc011lmk.2	nonsynonymous SNV	exon4	c.C83T	p.S28F	YSINYLHFGEPKSWYAIPPEHGKRL	YSINYLHFGEPKFWYAIPPEHGKRL	6.0	6.0	-	-	3713_9:6849697-6849697 C>T_YSINYLHFGEPKFWYAIPPEHGKRL
9:20764884-20764884 A>G	1.0	3713	MELANOMA	-	-	-	-	FOCAD	NM_017794,p.I171V|ENST00000338382,p.I171V|uc003zog.1,p.I171V|ENST00000380249,p.I171V	protein_coding	uc003zog.1	nonsynonymous SNV	exon9	c.A511G	p.I171V	FQQCPERLEVSCIQIMAPFLWYLYC	FQQCPERLEVSCVQIMAPFLWYLYC	5.0	8.0	-	-	3713_9:20764884-20764884 A>G_FQQCPERLEVSCVQIMAPFLWYLYC
16:2160597-2160597 G>A	1.0	3713	MELANOMA	-	-	-	-	PKD1	ENST00000262304,p.T1524I|uc002cot.1,p.T1524I|NM_001009944,p.T1524I|NM_000296,p.T1524I|ENST00000423118,p.T1524I|uc002cos.1,p.T1524I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002cot.1	nonsynonymous SNV	exon15	c.C4571T	p.T1524I	EVTHAYNSTGDFTVRVAGWNEVSRS	EVTHAYNSTGDFIVRVAGWNEVSRS	10.0	7.0	unscreened	-	3713_16:2160597-2160597 G>A_EVTHAYNSTGDFIVRVAGWNEVSRS
21:44840298-44840298 G>A	1.0	3713	MELANOMA	-	-	-	-	SIK1	ENST00000270162,p.P263L|uc002zdf.2,p.P263L|NM_173354,p.P263L	retained_intron, protein_coding	uc002zdf.2	nonsynonymous SNV	exon8	c.C788T	p.P263L	CESLIRRMLVVDPARRITIAQIRQH	CESLIRRMLVVDLARRITIAQIRQH	9.0	1.0	unscreened	-	3713_21:44840298-44840298 G>A_CESLIRRMLVVDLARRITIAQIRQH
10:127414357-127414357 C>T	1.0	3713	MELANOMA	-	-	-	-	EDRF1	uc001lin.3,p.P248S|ENST00000368815,p.P248S|ENST00000481600,p.P248S|ENST00000356792,p.P248S|NM_015608,p.P248S|NM_001202438,p.P248S|ENST00000419769,p.P248S|ENST00000337623,p.P248S|uc001lio.1,p.P248S|uc001liq.1,p.P248S	retained_intron, protein_coding, nonsense_mediated_decay	uc001liq.1	nonsynonymous SNV	exon6	c.C742T	p.P248S	QTNDSEGASWPAPFEMPSSVSEDPS	QTNDSEGASWPASFEMPSSVSEDPS	6.0	9.0	unscreened	-	3713_10:127414357-127414357 C>T_QTNDSEGASWPASFEMPSSVSEDPS
6:149997431-149997431 A>T	1.0	3713	MELANOMA	-	-	-	-	LATS1	ENST00000543571,p.F950I|ENST00000253339,p.F950I|uc003qmu.2,p.F950I|uc003qmv.2,p.F950I|NM_004690,p.F950I|uc010kif.2,p.F845I	protein_coding, processed_transcript, nonsense_mediated_decay	uc010kif.2	nonsynonymous SNV	exon8	c.T2533A	p.F845I	VILFEMLVGQPPFLAQTPLETQMKV	VILFEMLVGQPPILAQTPLETQMKV	6.0	8.0	unscreened	-	3713_6:149997431-149997431 A>T_VILFEMLVGQPPILAQTPLETQMKV
18:9257054-9257054 G>T	1.0	3713	MELANOMA	-	-	-	-	ANKRD12	ENST00000400020,p.L1240F|NM_001083625,p.L1240F|uc010dkx.1,p.L970F|ENST00000262126,p.L1263F|uc002knx.3,p.L1240F|uc002knw.3,p.L1240F|uc002knv.3,p.L1263F|NM_015208,p.L1263F|ENST00000383440,p.L1240F|NM_001204056,p.L1240F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dkx.1	nonsynonymous SNV	exon4	c.G2910T	p.L970F	SIAKSPALHERELDSLADLPERIKP	SIAKSPALHEREFDSLADLPERIKP	8.0	10.0	-	-	3713_18:9257054-9257054 G>T_SIAKSPALHEREFDSLADLPERIKP
1:161136711-161136711 C>T	1.0	3713	MELANOMA	-	-	-	-	PPOX	ENST00000535223,p.P25L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000535223	nonsynonymous SNV	exon2	c.C74T	p.P25L	SGLAASYHLSRAPCPPKVMLGGSWL	SGLAASYHLSRALCPPKVMLGGSWL	9.0	5.0	unscreened	-	3713_1:161136711-161136711 C>T_SGLAASYHLSRALCPPKVMLGGSWL
2:219544686-219544686 C>T	1.0	3713	MELANOMA	-	-	-	-	STK36	ENST00000392106,p.P340L|ENST00000392105,p.P340L|NM_015690,p.P340L|ENST00000440309,p.P340L|NM_001243313,p.P340L|uc002viv.3,p.P340L|uc002viu.3,p.P340L|ENST00000295709,p.P340L	retained_intron, protein_coding, nonsense_mediated_decay	uc002viv.3	nonsynonymous SNV	exon9	c.C1019T	p.P340L	EDKTSKVAPGTAPLPRLGATPQESS	EDKTSKVAPGTALLPRLGATPQESS	9.0	5.0	-	-	3713_2:219544686-219544686 C>T_EDKTSKVAPGTALLPRLGATPQESS
19:52469189-52469189 G>A	1.0	3713	MELANOMA	-	-	-	-	ZNF350	uc002pyd.3,p.H173Y|ENST00000601430,p.H137Y|NM_021632,p.H173Y|ENST00000243644,p.H173Y	retained_intron, protein_coding, processed_transcript	uc002pyd.3	nonsynonymous SNV	exon5	c.C517T	p.H173Y	GDSFLHANHERLHTAIKFPASQKLI	GDSFLHANHERLYTAIKFPASQKLI	5.0	10.0	unscreened	-	3713_19:52469189-52469189 G>A_GDSFLHANHERLYTAIKFPASQKLI
1:84412811-84412811 G>T	1.0	3713	MELANOMA	-	-	-	-	TTLL7	NM_024686,p.H168N|ENST00000260505,p.H168N|ENST00000485638,p.H52N|uc001djc.3,p.H168N|ENST00000480174,p.H168N	protein_coding, processed_transcript, nonsense_mediated_decay	uc001djc.3	nonsynonymous SNV	exon6	c.C502A	p.H168N	TFIVKPANGAMGHGISLIRNGDKLP	TFIVKPANGAMGNGISLIRNGDKLP	7.0	2.0	-	-	3713_1:84412811-84412811 G>T_TFIVKPANGAMGNGISLIRNGDKLP
1:85817238-85817238 G>A	1.0	3713	MELANOMA	-	-	-	-	DDAH1	uc009wco.3,p.S40F|ENST00000542148,p.S43F|NM_001134445,p.S40F|ENST00000539042,p.S143F|uc010osb.2,p.S43F|ENST00000284031,p.S143F|ENST00000535924,p.S40F|uc001dlb.3,p.S143F|ENST00000426972,p.S50F|NM_012137,p.S143F|uc001dlc.3,p.S40F	protein_coding, processed_transcript	uc010osb.2	nonsynonymous SNV	exon3	c.C128T	p.S43F	VLFTGREFFVGLSKRTNQRGAEILA	VLFTGREFFVGLFKRTNQRGAEILA	6.0	9.0	unscreened	-	3713_1:85817238-85817238 G>A_VLFTGREFFVGLFKRTNQRGAEILA
5:38950693-38950693 G>A	1.0	3713	MELANOMA	-	-	-	-	RICTOR	NM_152756,p.P1086L|uc003jlp.2,p.P1086L|uc010ivf.2,p.P801L|NM_001285440,p.P801L|NM_001285439,p.P1086L|ENST00000357387,p.P1086L|uc003jlo.2,p.P1086L|ENST00000296782,p.P1086L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ivf.2	nonsynonymous SNV	exon31	c.C2402T	p.P801L	DRSGPIKDKNSFPFFASSKLVKNRI	DRSGPIKDKNSFLFFASSKLVKNRI	7.0	3.0	unscreened	-	3713_5:38950693-38950693 G>A_DRSGPIKDKNSFLFFASSKLVKNRI
9:35102710-35102710 C>T	1.0	3713	MELANOMA	-	-	-	-	STOML2	ENST00000452248,p.M52I|ENST00000356493,p.M52I|uc003zwi.3,p.M52I|NM_013442,p.M52I|uc011lou.2,p.M52I|NM_001287031,p.M52I	protein_coding, processed_transcript, nonsense_mediated_decay	uc011lou.2	nonsynonymous SNV	exon2	c.G156A	p.M52I	FVPQQEAWVVERMGRFHRILEPGLN	FVPQQEAWVVERIGRFHRILEPGLN	9.0	1.0	-	-	3713_9:35102710-35102710 C>T_FVPQQEAWVVERIGRFHRILEPGLN
5:140812757-140812757 ->TATA	0.0	3713	MELANOMA	-	-	-	-	PCDHGA12	uc011dba.2,p.L811fs|NM_032094,p.L811fs	protein_coding	uc011dba.2	frameshift insertion	exon1	c.2431_2432insTATA	p.L811fs	FSKDSHGLIEVSLYQIFFLFFF	FSKDSHGLIEVSLYISNLLSFFFL	9.0	1.0	unscreened	-	3713_5:140812757-140812757 ->TATA_FSKDSHGLIEVSLYISNLLSFFFL
14:21464435-21464435 C>T	1.0	3713	MELANOMA	-	-	-	-	METTL17	ENST00000339374,p.P355L|NM_022734,p.P355L|uc001vyn.3,p.P355L|ENST00000556670,p.P355L|ENST00000382985,p.P355L|uc001vyo.3,p.P355L|NM_001029991,p.P355L|uc001vym.3,p.P355L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001vyo.3	nonsynonymous SNV	exon12	c.C1064T	p.P355L	TNLACSFSQAYHPIPFSWNKKPKEE	TNLACSFSQAYHLIPFSWNKKPKEE	9.0	8.0	-	-	3713_14:21464435-21464435 C>T_TNLACSFSQAYHLIPFSWNKKPKEE
1:206775736-206775736 G>A	1.0	3713	MELANOMA	-	-	-	-	EIF2D	uc001heh.2,p.P286S|ENST00000437518,p.P258S|NM_006893,p.P286S|ENST00000271764,p.P286S	protein_coding, processed_transcript	uc001heh.2	nonsynonymous SNV	exon7	c.C856T	p.P286S	HALKCRVKKADLPLLTSTFLGSHMF	HALKCRVKKADLSLLTSTFLGSHMF	7.0	7.0	-	-	3713_1:206775736-206775736 G>A_HALKCRVKKADLSLLTSTFLGSHMF
3:184717528-184717528 G>A	1.0	3713	MELANOMA	-	-	ID=COSM270740;OCCURENCE=1(large_intestine)	-	VPS8	uc010hye.1,p.C721Y|uc003fpb.1,p.C1292Y|uc010hyd.1,p.C1202Y|uc021xik.1,p.C1294Y|ENST00000437079,p.C1294Y|NM_001009921,p.C1294Y|ENST00000287546,p.C1294Y|ENST00000436792,p.C1292Y|ENST00000446204,p.C1202Y|NM_015303,p.C1292Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xik.1	nonsynonymous SNV	exon44	c.G3881A	p.C1294Y	HLYHSFCLQNKECTVEFEGQTRWTC	HLYHSFCLQNKEYTVEFEGQTRWTC	9.0	1.0	unscreened	-	3713_3:184717528-184717528 G>A_HLYHSFCLQNKEYTVEFEGQTRWTC
7:23339074-23339074 C>T	1.0	3713	MELANOMA	-	-	-	-	MALSU1	ENST00000466681,p.R35W|NM_138446,p.R35W|uc003swd.1,p.R35W	retained_intron, protein_coding, processed_transcript	uc003swd.1	nonsynonymous SNV	exon1	c.C103T	p.R35W	VAGSAVGAEPGLRLLAVQRLPVGAA	VAGSAVGAEPGLWLLAVQRLPVGAA	9.0	1.0	unscreened	-	3713_7:23339074-23339074 C>T_VAGSAVGAEPGLWLLAVQRLPVGAA
15:51837884-51837884 C>T	1.0	3713	MELANOMA	-	-	-	-	DMXL2	uc010ufy.2,p.D276N|ENST00000449909,p.D276N|uc002abf.3,p.D276N|NM_015263,p.D276N|ENST00000543779,p.D276N|uc010bfa.3,p.D276N|ENST00000251076,p.D276N|NM_001174116,p.D276N|NM_001174117,p.D276N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ufy.2	nonsynonymous SNV	exon8	c.G826A	p.D276N	VCRLWAETLLPEDCLLGEQICETTT	VCRLWAETLLPENCLLGEQICETTT	8.0	6.0	-	-	3713_15:51837884-51837884 C>T_VCRLWAETLLPENCLLGEQICETTT
1:75217994-75217994 G>A	1.0	3713	MELANOMA	-	-	-	-	TYW3	ENST00000457880,p.G116S|NM_138467,p.G149S|ENST00000370867,p.G149S|uc010oqw.2,p.G116S|NM_001162916,p.G116S|uc001dgn.3,p.G149S	protein_coding, processed_transcript	uc010oqw.2	nonsynonymous SNV	exon4	c.G346A	p.G116S	RGKTMLAVRSTHGLEVPLSHKGKLM	RGKTMLAVRSTHSLEVPLSHKGKLM	8.0	8.0	-	-	3713_1:75217994-75217994 G>A_RGKTMLAVRSTHSLEVPLSHKGKLM
8:52773526-52773526 G>C	1.0	3713	MELANOMA	-	-	-	-	PCMTD1	uc003xqx.4,p.H62Q|ENST00000521344,p.H62Q|NM_052937,p.H62Q|ENST00000522514,p.H62Q|ENST00000360540,p.H62Q|uc011ldo.1,p.H62Q	retained_intron, protein_coding, processed_transcript	uc011ldo.1	nonsynonymous SNV	exon1	c.C186G	p.H62Q	AYKDLAWKHGNIHLSAPCIYSEVME	AYKDLAWKHGNIQLSAPCIYSEVME	8.0	9.0	unscreened	-	3713_8:52773526-52773526 G>C_AYKDLAWKHGNIQLSAPCIYSEVME
17:79980707-79980707 G>A	1.0	3713	MELANOMA	-	-	-	-	STRA13	uc031rey.1,p.R11W|ENST00000306704,p.R11W|ENST00000392359,p.R11W|NM_144998,p.R11W|uc002kdd.4,p.R11W|NM_001271006,p.R11W|ENST00000580435,p.R11W|NM_001271007,p.R11W|ENST00000584347,p.R11W|uc002kdc.4,p.R11W	retained_intron, protein_coding, processed_transcript	uc031rey.1	nonsynonymous SNV	exon1	c.C31T	p.R11W	MEGAGAGSGFRKELVSRLLHLHF	MEGAGAGSGFWKELVSRLLHLHF	9.0	8.0	unscreened	-	3713_17:79980707-79980707 G>A_MEGAGAGSGFWKELVSRLLHLHF
7:116859215-116859215 C>G	1.0	3713	MELANOMA	-	-	-	-	ST7	ENST00000393449,p.R490G|ENST00000393447,p.R452G|ENST00000432298,p.R449G|ENST00000323984,p.R495G|uc011knl.2,p.R472G|uc003vir.3,p.R415G|NM_018412,p.R472G|ENST00000265437,p.R495G|NM_021908,p.R495G|ENST00000393451,p.R472G|ENST00000393444,p.R429G|ENST00000393443,p.R417G|ENST00000422922,p.R426G|uc011knm.2,p.R452G|uc003vio.3,p.R472G|uc003vin.3,p.R495G|uc003viq.3,p.R449G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011knm.2	nonsynonymous SNV	exon14	c.C1354G	p.R452G	FYPYPICTETADRELLPSFHEVSVY	FYPYPICTETADGELLPSFHEVSVY	9.0	9.0	-	-	3713_7:116859215-116859215 C>G_FYPYPICTETADGELLPSFHEVSVY
2:102788261-102788261 G>A	1.0	3713	MELANOMA	-	-	-	-	IL1R1	uc002tbr.3,p.G241E|ENST00000409929,p.G241E|NM_000877,p.G241E|uc002tbq.3,p.G241E|NM_001288706,p.G241E|ENST00000410023,p.G241E|ENST00000409329,p.G241E|ENST00000424272,p.G241E|ENST00000409288,p.G241E|ENST00000233946,p.G241E|uc010fix.3,p.G241E|ENST00000428279,p.G97E	protein_coding, nonsense_mediated_decay	uc010fix.3	nonsynonymous SNV	exon8	c.G722A	p.G241E	VSPANETMEVDLGSQIQLICNVTGQ	VSPANETMEVDLESQIQLICNVTGQ	7.0	7.0	-	-	3713_2:102788261-102788261 G>A_VSPANETMEVDLESQIQLICNVTGQ
2:27275972-27275972 C>T	1.0	3713	MELANOMA	-	-	-	-	AGBL5	uc002rie.3,p.S49F|NM_001035507,p.S49F|ENST00000421915,p.S49F|uc002rid.3,p.S49F|ENST00000453161,p.S49F|ENST00000487078,p.S49F|ENST00000323064,p.S49F|NM_021831,p.S49F|ENST00000451003,p.S49F|ENST00000360131,p.S49F	retained_intron, protein_coding, nonsense_mediated_decay	uc002rie.3	nonsynonymous SNV	exon2	c.C146T	p.S49F	GGASALTSGIASSPDYEFNVWTRPD	GGASALTSGIASFPDYEFNVWTRPD	7.0	6.0	-	-	3713_2:27275972-27275972 C>T_GGASALTSGIASFPDYEFNVWTRPD
22:36537850-36537850 G>A	1.0	3713	MELANOMA	-	-	-	-	APOL3	uc003aoq.3,p.L132F|uc003aor.3,p.L132F|ENST00000397293,p.L132F|ENST00000349314,p.L203F|NM_145640,p.L203F|uc003aot.3,p.L203F|uc003aos.3,p.L132F	protein_coding, processed_transcript, nonsense_mediated_decay	uc003aot.3	nonsynonymous SNV	exon3	c.C607T	p.L203F	SSSTGAASGIMSLAGLVLAPFTAGT	SSSTGAASGIMSFAGLVLAPFTAGT	10.0	1.0	-	-	3713_22:36537850-36537850 G>A_SSSTGAASGIMSFAGLVLAPFTAGT
18:59828574-59828574 A>G	1.0	3713	MELANOMA	-	-	-	-	PIGN	ENST00000588571,p.F5L|ENST00000587134,p.F5L|ENST00000589339,p.F5L|NM_012327,p.F5L|ENST00000585344,p.F5L|NM_176787,p.F5L|ENST00000585926,p.F5L|ENST00000400334,p.F5L|uc021ulb.1,p.F5L|ENST00000357637,p.F5L|ENST00000589720,p.F5L|ENST00000585923,p.F5L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ulb.1	nonsynonymous SNV	exon1	c.T13C	p.F5L	MLLFFTLGLLIHFVFFA	MLLFLTLGLLIHFVFFA	7.0	5.0	-	-	3713_18:59828574-59828574 A>G_MLLFLTLGLLIHFVFFA
14:20874556-20874556 G>A	1.0	3713	MELANOMA	-	-	-	-	TEP1	ENST00000556935,p.R191C|uc001vxe.3,p.R191C|ENST00000555727,p.R191C|NM_007110,p.R191C|ENST00000262715,p.R191C|uc010tlg.1,p.R191C	retained_intron, protein_coding, nonsense_mediated_decay	uc010tlg.1	nonsynonymous SNV	exon3	c.C571T	p.R191C	SATETAQEATLGRWFDSEEKKGAET	SATETAQEATLGCWFDSEEKKGAET	9.0	8.0	-	-	3713_14:20874556-20874556 G>A_SATETAQEATLGCWFDSEEKKGAET
12:51449713-51449713 C>T	1.0	3713	MELANOMA	-	-	-	-	LETMD1	ENST00000262055,p.S190F|uc001rxm.3,p.S190F|NM_001243689,p.S203F|ENST00000418425,p.S203F|ENST00000551477,p.S157F|ENST00000550929,p.S134F|uc001rxl.3,p.S134F|NM_015416,p.S190F|uc009zlw.3,p.S203F|ENST00000552739,p.S73F|uc010smz.2,p.S140F|ENST00000549340,p.S140F|uc001rxn.3,p.S33F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc010smz.2	nonsynonymous SNV	exon4	c.C419T	p.S140F	DFLDIYHAFRKQSHPEIISYLEKVI	DFLDIYHAFRKQFHPEIISYLEKVI	10.0	5.0	-	-	3713_12:51449713-51449713 C>T_DFLDIYHAFRKQFHPEIISYLEKVI
12:14941897-14941897 G>A	1.0	3713	MELANOMA	-	-	-	-	WBP11	uc001rci.3,p.P494S|ENST00000537574,p.P460S|NM_016312,p.P494S|ENST00000261167,p.P494S	retained_intron, protein_coding, nonsense_mediated_decay	uc001rci.3	nonsynonymous SNV	exon11	c.C1480T	p.P494S	PPPRGPPPRLPPPAPPGIPPPRPGM	PPPRGPPPRLPPSAPPGIPPPRPGM	8.0	8.0	unscreened	-	3713_12:14941897-14941897 G>A_PPPRGPPPRLPPSAPPGIPPPRPGM
16:68856054-68856054 C>T	1.0	3713	MELANOMA	-	-	-	1	CDH1	uc010cfg.1,p.P560L|NM_004360,p.P621L|uc002ewg.1,p.P621L|ENST00000422392,p.P560L|ENST00000261769,p.P621L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, 3prime_overlapping_ncrna	uc010cfg.1	nonsynonymous SNV	exon11	c.C1679T	p.P560L	PQVINIIDADLPPNTSPFTAELTHG	PQVINIIDADLPLNTSPFTAELTHG	8.0	8.0	unscreened	-	3713_16:68856054-68856054 C>T_PQVINIIDADLPLNTSPFTAELTHG
11:119290158-119290158 G>A	1.0	3713	MELANOMA	-	-	-	-	THY1	ENST00000580275,p.S132F|ENST00000284240,p.S149F|NM_006288,p.S149F|ENST00000528522,p.S149F|uc001pwr.3,p.S149F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001pwr.3	nonsynonymous SNV	exon4	c.C446T	p.S149F	AQNTSWLLLLLLSLSLLQATDFMSL	AQNTSWLLLLLLFLSLLQATDFMSL	9.0	8.0	-	-	3713_11:119290158-119290158 G>A_AQNTSWLLLLLLFLSLLQATDFMSL
6:36940465-36940465 G>A	1.0	3713	MELANOMA	-	-	-	-	MTCH1	uc003ond.2,p.P290L|ENST00000373627,p.P290L|uc003one.5,p.P290L|NM_001271641,p.P290L	protein_coding, processed_transcript	uc003one.5	nonsynonymous SNV	exon8	c.C869T	p.P290L	NAYLVDDSVSDTPGGLGNDQNPGSQ	NAYLVDDSVSDTLGGLGNDQNPGSQ	10.0	1.0	unscreened	-	3713_6:36940465-36940465 G>A_NAYLVDDSVSDTLGGLGNDQNPGSQ
6:6167788-6167788 G>A	0.0	3713	MELANOMA	-	-	-	-	F13A1	ENST00000264870,p.S604F|uc003mwv.3,p.S604F|NM_000129,p.S604F|uc011dib.2,p.S541F	retained_intron, protein_coding	uc011dib.2	nonsynonymous SNV	exon12	c.C1622T	p.S541F	AGEYMGQLLEQASLHFFVTARINET	AGEYMGQLLEQAFLHFFVTARINET	7.0	1.0	unscreened	-	3713_6:6167788-6167788 G>A_AGEYMGQLLEQAFLHFFVTARINET
X:53222009-53222009 G>A	1.0	3713	MELANOMA	-	-	-	1	KDM5C	uc022bxe.1,p.L1353F|ENST00000452825,p.L1353F|NM_001146702,p.L1353F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022bxe.1	nonsynonymous SNV	exon24	c.C4057T	p.L1353F	VTLDENHSIPESLDFCILTPRYCSD	VTLDENHSIPESFDFCILTPRYCSD	8.0	1.0	unscreened	-	3713_X:53222009-53222009 G>A_VTLDENHSIPESFDFCILTPRYCSD
6:116757828-116757828 C>T	1.0	3713	MELANOMA	-	-	-	-	DSE	NM_013352,p.P733S|uc003pwt.3,p.P733S|ENST00000359564,p.P733S|uc003pwu.3,p.P400S|ENST00000331677,p.P733S|uc003pws.3,p.P733S|uc011ebg.2,p.P752S|NM_001080976,p.P733S|ENST00000452085,p.P733S|ENST00000537543,p.P752S	protein_coding	uc011ebg.2	nonsynonymous SNV	exon6	c.C2254T	p.P752S	FDRNSAIKSSIVPEVKDYAAIVEQN	FDRNSAIKSSIVSEVKDYAAIVEQN	7.0	9.0	unscreened	-	3713_6:116757828-116757828 C>T_FDRNSAIKSSIVSEVKDYAAIVEQN
4:2515425-2515425 C>T	1.0	3713	MELANOMA	-	-	-	-	RNF4	NM_001185010,p.P98S|ENST00000511859,p.P98S|uc010icj.3,p.P98S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010icj.3	nonsynonymous SNV	exon7	c.C292T	p.P98S	TQRSCRMDVSSFPQNAAMSSVASAS	TQRSCRMDVSSFSQNAAMSSVASAS	8.0	5.0	unscreened	-	3713_4:2515425-2515425 C>T_TQRSCRMDVSSFSQNAAMSSVASAS
11:118969170-118969170 G>A	1.0	3713	MELANOMA	-	-	-	-	DPAGT1	ENST00000442480,p.S174F|ENST00000432443,p.S117F|ENST00000409993,p.S224F|uc001pvm.1,p.S117F|uc010rza.2,p.S117F|ENST00000354202,p.S224F|uc001pvj.3,p.S117F|uc001pvi.3,p.S224F|uc001pvk.3,p.S52F|NM_001382,p.S224F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rza.2	nonsynonymous SNV	exon4	c.C350T	p.S117F	ELEGDCRDDHVFSLYFMIPFFFTTL	ELEGDCRDDHVFFLYFMIPFFFTTL	10.0	8.0	-	-	3713_11:118969170-118969170 G>A_ELEGDCRDDHVFFLYFMIPFFFTTL
16:70531289-70531289 G>A	1.0	3713	MELANOMA	-	-	-	-	COG4	uc002ezd.3,p.A439V|uc002ezc.3,p.A439V|NM_001195139,p.A439V|NM_015386,p.A439V|ENST00000323786,p.A439V|uc002eze.3,p.A133V	retained_intron, protein_coding, nonsense_mediated_decay	uc002eze.3	nonsynonymous SNV	exon9	c.C398T	p.A133V	MEEYFMRETVNKAVALDTYEKGQLT	MEEYFMRETVNKVVALDTYEKGQLT	7.0	7.0	-	-	3713_16:70531289-70531289 G>A_MEEYFMRETVNKVVALDTYEKGQLT
16:11348752-11348752 G>A	1.0	3713	MELANOMA	-	-	-	1	SOCS1	uc021tcz.1,p.P195L|NM_003745,p.P195L|ENST00000332029,p.P195L|uc002dar.1,p.P195L	protein_coding	uc021tcz.1	nonsynonymous SNV	exon1	c.C584T	p.P195L	VATVGRENLARIPLNPVLRDYLSSF	VATVGRENLARILLNPVLRDYLSSF	5.0	9.0	unscreened	-	3713_16:11348752-11348752 G>A_VATVGRENLARILLNPVLRDYLSSF
9:117808802-117808802 G>A	1.0	3713	MELANOMA	-	-	-	2	TNC	ENST00000346706,p.P1125L|ENST00000542877,p.P1308L|ENST00000535648,p.P1216L|ENST00000341037,p.P1489L|uc004bjj.4,p.P1671L|ENST00000340094,p.P1307L|uc022bmj.1,p.P1308L|ENST00000350763,p.P1671L|NM_002160,p.P1671L	protein_coding, processed_transcript	uc022bmj.1	nonsynonymous SNV	exon12	c.C3923T	p.P1308L	KQSEPLEITLLAPERTRDITGLREA	KQSEPLEITLLALERTRDITGLREA	10.0	8.0	-	-	3713_9:117808802-117808802 G>A_KQSEPLEITLLALERTRDITGLREA
12:32772645-32772645 T>C	0.0	3713	MELANOMA	-	-	-	-	FGD4	ENST00000266482,p.L203S|ENST00000531134,p.L536S|ENST00000525053,p.L563S|ENST00000534526,p.L588S|ENST00000427716,p.L451S|uc001rky.3,p.L203S|ENST00000381025,p.L203S|uc001rla.3,p.L107S|uc010ske.2,p.L563S|NM_139241,p.L451S|uc001rlc.3,p.L536S|uc001rkz.3,p.L451S|ENST00000546442,p.L358S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ske.2	nonsynonymous SNV	exon11	c.T1688C	p.L563S	AQERYLFLFNNMLLYCVPKFSLVGS	AQERYLFLFNNMSLYCVPKFSLVGS	6.0	4.0	unscreened	-	3713_12:32772645-32772645 T>C_AQERYLFLFNNMSLYCVPKFSLVGS
1:55586342-55586342 G>A	1.0	3713	MELANOMA	-	-	-	-	USP24	ENST00000294383,p.L1479F|NM_015306,p.L1479F|ENST00000407756,p.L1319F|uc001cyg.4,p.L1313F|uc021onw.1,p.L1479F	retained_intron, protein_coding, processed_transcript	uc021onw.1	nonsynonymous SNV	exon38	c.C4435T	p.L1479F	SAHPDVQKPNQFLLGVILTAQLPLW	SAHPDVQKPNQFFLGVILTAQLPLW	8.0	7.0	-	-	3713_1:55586342-55586342 G>A_SAHPDVQKPNQFFLGVILTAQLPLW
5:100147623-100147623 T>G	1.0	3713	MELANOMA	-	-	-	-	ST8SIA4	ENST00000231461,p.E336D|NM_005668,p.E336D|uc003knk.3,p.E336D	protein_coding, processed_transcript, nonsense_mediated_decay	uc003knk.3	nonsynonymous SNV	exon5	c.A1008C	p.E336D	YFSNASPHRMPLEFKTLNVLHNRGA	YFSNASPHRMPLDFKTLNVLHNRGA	5.0	5.0	unscreened	-	3713_5:100147623-100147623 T>G_YFSNASPHRMPLDFKTLNVLHNRGA
20:377195-377195 C>T	1.0	3713	MELANOMA	-	-	-	-	TRIB3	NM_001301193,p.P313L|NM_021158,p.P313L|uc002wdn.3,p.P340L|NM_001301201,p.P340L|NM_001301188,p.P313L|ENST00000422053,p.P340L|uc002wdm.3,p.P313L|NM_001301190,p.P313L|ENST00000217233,p.P313L|NM_001301196,p.P313L	protein_coding, processed_transcript	uc002wdn.3	nonsynonymous SNV	exon5	c.C1019T	p.P340L	AERLTATGILLHPWLRQDPMPLAPT	AERLTATGILLHLWLRQDPMPLAPT	6.0	5.0	-	-	3713_20:377195-377195 C>T_AERLTATGILLHLWLRQDPMPLAPT
6:99365275-99365275 C>A	1.0	3713	MELANOMA	-	-	-	-	FBXL4	ENST00000229971,p.G278V|ENST00000369244,p.G278V|NM_012160,p.G278V|uc003ppg.1,p.G278V|NM_001278716,p.G278V|uc003ppf.1,p.G278V	protein_coding	uc003ppg.1	nonsynonymous SNV	exon5	c.G833T	p.G278V	FSSAVLGEGPNNGYFDKLPYELIQL	FSSAVLGEGPNNVYFDKLPYELIQL	5.0	4.0	-	-	3713_6:99365275-99365275 C>A_FSSAVLGEGPNNVYFDKLPYELIQL
21:44841158-44841158 C>T	1.0	3713	MELANOMA	-	-	-	-	SIK1	uc002zdf.2,p.G197R|ENST00000270162,p.G197R|NM_173354,p.G197R	retained_intron, protein_coding	uc002zdf.2	nonsynonymous SNV	exon6	c.G589A	p.G197R	GSPPYAAPEVFEGKEYEGPQLDIWS	GSPPYAAPEVFERKEYEGPQLDIWS	9.0	9.0	unscreened	-	3713_21:44841158-44841158 C>T_GSPPYAAPEVFERKEYEGPQLDIWS
14:102792712-102792712 C>T	1.0	3713	MELANOMA	-	-	-	-	ZNF839	uc031qqo.1,p.P111S|NM_001267828,p.P111S|ENST00000262236,p.P111S|uc001ylq.1,p.P111S|uc001ylr.3,p.P111S|ENST00000559185,p.P111S|ENST00000559098,p.P163S|NM_001267827,p.P111S|uc010awk.2,p.P227S|uc001ylo.3,p.P111S|ENST00000442396,p.P227S|ENST00000558850,p.P111S|NM_018335,p.P227S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qqo.1	nonsynonymous SNV	exon2	c.C331T	p.P111S	LAVTSLSSSSAHPFISNLHTRHTEK	LAVTSLSSSSAHSFISNLHTRHTEK	6.0	9.0	-	-	3713_14:102792712-102792712 C>T_LAVTSLSSSSAHSFISNLHTRHTEK
X:71358570-71358570 C>T	1.0	3713	MELANOMA	-	-	-	-	NHSL2	ENST00000535692,p.S25F|uc010nli.2,p.S160F|uc011mqa.2,p.S391F|NM_001013627,p.S391F|uc004eak.1,p.S25F|ENST00000510661,p.S160F|ENST00000373677,p.S25F|ENST00000540800,p.S391F	protein_coding	uc011mqa.2	nonsynonymous SNV	exon6	c.C1172T	p.S391F	SCNGPTESTFSTSWKGDAFTYMTPS	SCNGPTESTFSTFWKGDAFTYMTPS	1.0	10.0	unscreened	-	3713_X:71358570-71358570 C>T_SCNGPTESTFSTFWKGDAFTYMTPS
2:61009883-61009883 C>T	1.0	3713	MELANOMA	-	-	-	-	PAPOLG	ENST00000412217,p.P32S|uc010fch.3,p.P53S|uc002saj.3,p.P53S|uc002sai.3,p.P364S|NM_022894,p.P364S|ENST00000238714,p.P364S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fch.3	nonsynonymous SNV	exon2	c.C157T	p.P53S	QGKSDWSKLLEPPNFFQKYRHYIVL	QGKSDWSKLLEPSNFFQKYRHYIVL	5.0	5.0	unscreened	-	3713_2:61009883-61009883 C>T_QGKSDWSKLLEPSNFFQKYRHYIVL
1:114511144-114511144 C>T	1.0	3713	MELANOMA	-	-	-	-	HIPK1	NM_198268,p.S882F|ENST00000369553,p.S488F|ENST00000340480,p.S508F|ENST00000369555,p.S837F|ENST00000369559,p.S882F|NM_152696,p.S882F|uc001eeq.3,p.S174F|NM_181358,p.S488F|ENST00000406344,p.S488F|ENST00000369558,p.S882F|ENST00000369554,p.S837F|ENST00000426820,p.S882F|uc001een.3,p.S882F|uc001eep.3,p.S488F|uc001eem.3,p.S882F|uc001eel.3,p.S882F|ENST00000369561,p.S848F|NM_198269,p.S508F|uc001eeo.3,p.S508F	protein_coding	uc001eeq.3	nonsynonymous SNV	exon4	c.C521T	p.S174F	GSSPLRTTSSYNSLVPVQDQHQPII	GSSPLRTTSSYNFLVPVQDQHQPII	7.0	7.0	-	-	3713_1:114511144-114511144 C>T_GSSPLRTTSSYNFLVPVQDQHQPII
8:105521183-105521183 C>T	1.0	3713	MELANOMA	-	-	ID=COSM3431999;OCCURENCE=1(large_intestine)	-	LRP12	uc003ymc.4,p.E67K	retained_intron, protein_coding, processed_transcript	uc003ymc.4	nonsynonymous SNV	exon2	c.G199A	p.E67K	INCSWFIRANPGEIITIR	INCSWFIRANPGKIITIR	6.0	4.0	unscreened	-	3713_8:105521183-105521183 C>T_INCSWFIRANPGKIITIR
19:8322827-8322827 C>T	1.0	3713	MELANOMA	-	-	ID=COSM1661111;OCCURENCE=1(kidney)	-	CERS4	ENST00000559450,p.S269F|uc002mji.3,p.S105F|NM_024552,p.S269F|ENST00000558331,p.S218F|ENST00000251363,p.S269F|uc002mjg.3,p.S269F	retained_intron, protein_coding, processed_transcript	uc002mji.3	nonsynonymous SNV	exon11	c.C314T	p.S105F	YQQVCDALFLIFSFVFFYTRLVLFP	YQQVCDALFLIFFFVFFYTRLVLFP	9.0	10.0	-	-	3713_19:8322827-8322827 C>T_YQQVCDALFLIFFFVFFYTRLVLFP
10:97141464-97141464 G>A	1.0	3713	MELANOMA	-	-	-	-	SORBS1	NM_001290294,p.S498F|ENST00000607232,p.S333F|uc001kkl.3,p.S146F|NM_001290298,p.S412F|NM_001034956,p.S429F|uc001kkq.3,p.S429F|ENST00000353505,p.S429F|ENST00000371246,p.S566F|uc001kkn.3,p.S331F|ENST00000277982,p.S566F|uc001kkw.3,p.S498F|ENST00000371239,p.S343F|NM_001290297,p.S343F|ENST00000354106,p.S514F|NM_001034955,p.S566F|ENST00000393949,p.S514F|uc001kkp.3,p.S544F|ENST00000347291,p.S412F|uc001kko.3,p.S566F|ENST00000371227,p.S498F|ENST00000361941,p.S544F|ENST00000371245,p.S429F|NM_001034954,p.S544F|NM_001290296,p.S514F|uc001kkm.3,p.S400F|ENST00000371247,p.S544F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001kkw.3	nonsynonymous SNV	exon16	c.C1493T	p.S498F	PKSIYEYQPGKSSVLTNEKMSRDIS	PKSIYEYQPGKSFVLTNEKMSRDIS	10.0	9.0	unscreened	-	3713_10:97141464-97141464 G>A_PKSIYEYQPGKSFVLTNEKMSRDIS
5:65458273-65458273 T>C	1.0	3713	MELANOMA	-	-	-	-	SREK1	NM_139168,p.F87S|uc010iwy.4,p.F87S|ENST00000380918,p.F87S|NM_001077199,p.F203S|uc003juo.4,p.F87S|uc003jun.4,p.F203S|ENST00000334121,p.F203S|NM_001270492,p.F87S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010iwy.4	nonsynonymous SNV	exon6	c.T260C	p.F87S	SQTTTADQLLEFFKQVGEVKFVRMA	SQTTTADQLLEFSKQVGEVKFVRMA	9.0	10.0	-	-	3713_5:65458273-65458273 T>C_SQTTTADQLLEFSKQVGEVKFVRMA
16:30749171-30749171 C>T	1.0	3713	MELANOMA	-	-	-	-	SRCAP	uc002dze.1,p.P2604S|ENST00000380361,p.P2427S|uc002dzg.1,p.P2399S|ENST00000344771,p.P2446S|ENST00000395059,p.P2542S|ENST00000262518,p.P2604S|NM_006662,p.P2604S	retained_intron, protein_coding, nonsense_mediated_decay	uc002dzg.1	nonsynonymous SNV	exon29	c.C7195T	p.P2399S	ILPVSEKNLSLTPSAPSLTLEAGSI	ILPVSEKNLSLTSSAPSLTLEAGSI	8.0	7.0	-	-	3713_16:30749171-30749171 C>T_ILPVSEKNLSLTSSAPSLTLEAGSI
14:102508006-102508006 C>T	1.0	3713	MELANOMA	-	-	-	-	DYNC1H1	NM_001376,p.L4013F|ENST00000360184,p.L4013F|uc001yks.2,p.L4013F	retained_intron, protein_coding, processed_transcript	uc001yks.2	nonsynonymous SNV	exon65	c.C12037T	p.L4013F	LLAMAHMFVSTNLGESFMSIMEQPL	LLAMAHMFVSTNFGESFMSIMEQPL	10.0	10.0	-	-	3713_14:102508006-102508006 C>T_LLAMAHMFVSTNFGESFMSIMEQPL
14:23282306-23282306 C>T	0.0	3713	MELANOMA	-	-	-	-	SLC7A7	uc001wgr.4,p.G101E|ENST00000488800,p.G101E|uc001wgt.4,p.G101E|ENST00000555911,p.G101E|uc001wgv.4,p.G101E|ENST00000397529,p.G101E|ENST00000397528,p.G101E|NM_001126105,p.G101E|NM_001126106,p.G101E|ENST00000555702,p.G101E|ENST00000285850,p.G101E|uc001wgs.4,p.G101E|ENST00000555251,p.G101E|ENST00000554758,p.G101E|ENST00000397532,p.G101E|ENST00000557629,p.G101E|ENST00000556287,p.G101E|uc001wgu.4,p.G101E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wgv.4	nonsynonymous SNV	exon2	c.G302A	p.G101E	CYAELGTTIKKSGASYAYILEAFGG	CYAELGTTIKKSEASYAYILEAFGG	7.0	9.0	unscreened	-	3713_14:23282306-23282306 C>T_CYAELGTTIKKSEASYAYILEAFGG
10:98469651-98469651 G>A	0.0	3713	MELANOMA	-	-	-	-	PIK3AP1	ENST00000339364,p.R35W|uc001kmq.3,p.R35W|NM_152309,p.R35W	protein_coding, processed_transcript	uc001kmq.3	nonsynonymous SNV	exon2	c.C103T	p.R35W	WCQYLQTLFLSSRQVRSQKILTHRL	WCQYLQTLFLSSWQVRSQKILTHRL	6.0	6.0	unscreened	-	3713_10:98469651-98469651 G>A_WCQYLQTLFLSSWQVRSQKILTHRL
9:117822261-117822261 C>T	1.0	3713	MELANOMA	-	-	-	2	TNC	ENST00000341037,p.D1261N	protein_coding, processed_transcript	ENST00000341037	nonsynonymous SNV	exon12	c.G3781A	p.D1261N	VEVLTEDLPQLGDLAVSEVGWDGLR	VEVLTEDLPQLGNLAVSEVGWDGLR	10.0	5.0	unscreened	-	3713_9:117822261-117822261 C>T_VEVLTEDLPQLGNLAVSEVGWDGLR
1:2234429-2234429 C>T	1.0	3713	MELANOMA	-	-	-	2	SKI	ENST00000378536,p.P328S|NM_003036,p.P328S|uc001aja.4,p.P328S	retained_intron, protein_coding, processed_transcript	uc001aja.4	nonsynonymous SNV	exon2	c.C982T	p.P328S	KYKRRVPRVSSEPPASIRPKTDDTS	KYKRRVPRVSSESPASIRPKTDDTS	9.0	7.0	-	-	3713_1:2234429-2234429 C>T_KYKRRVPRVSSESPASIRPKTDDTS
9:124110423-124110423 G>A	1.0	3713	MELANOMA	-	-	-	-	STOM	uc011lyk.3,p.T126I|NM_001270526,p.T177I|ENST00000286713,p.T177I|NM_004099,p.T177I|ENST00000538954,p.T126I|uc004blh.4,p.T177I|uc031tew.1,p.T177I	protein_coding	uc031tew.1	nonsynonymous SNV	exon6	c.C530T	p.T177I	SDREEIAHNMQSTLDDATDAWGIKV	SDREEIAHNMQSILDDATDAWGIKV	10.0	10.0	-	-	3713_9:124110423-124110423 G>A_SDREEIAHNMQSILDDATDAWGIKV
10:97141464-97141464 G>A	1.0	3713	MELANOMA	-	-	-	-	SORBS1	ENST00000371249,p.S466F|uc001kkv.3,p.S466F|NM_006434,p.S334F|uc001kks.3,p.S334F|uc001kku.3,p.S375F|NM_001034957,p.S334F|uc010qof.1,p.S696F|uc001kkk.3,p.S122F|ENST00000371241,p.S334F|ENST00000306402,p.S375F|uc001kkr.3,p.S334F|uc010qoe.2,p.S343F|NM_024991,p.S375F|NM_001290295,p.S343F|NM_015385,p.S466F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qof.1	nonsynonymous SNV	exon15	c.C2087T	p.S696F	PKSIYEYQPGKSSVLTNEKMSSAIS	PKSIYEYQPGKSFVLTNEKMSSAIS	10.0	9.0	unscreened	-	3713_10:97141464-97141464 G>A_PKSIYEYQPGKSFVLTNEKMSSAIS
11:95560969-95560969 C>T	1.0	3713	MELANOMA	-	-	-	-	CEP57	uc001pfr.2,p.A150V|NM_014679,p.A302V|NM_001243776,p.A293V|uc010ruh.2,p.A293V|uc001pfp.2,p.A302V|uc009ywn.2,p.A150V|ENST00000537677,p.A275V|ENST00000325542,p.A302V|ENST00000541150,p.A293V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ruh.2	nonsynonymous SNV	exon10	c.C878T	p.A293V	PFVAGKSTSPSHAVVANVQLVLHLM	PFVAGKSTSPSHVVVANVQLVLHLM	8.0	3.0	-	-	3713_11:95560969-95560969 C>T_PFVAGKSTSPSHVVVANVQLVLHLM
5:158588338-158588338 G>A	1.0	3713	MELANOMA	-	-	-	-	RNF145	uc010jiq.2,p.S551L|NM_001199380,p.S551L|uc003lxp.3,p.S521L|NM_001199383,p.S521L|ENST00000521606,p.S538L|NM_144726,p.S549L|ENST00000520638,p.S535L|ENST00000518802,p.S551L|uc011ddy.2,p.S535L|NM_001199381,p.S538L|ENST00000424310,p.S521L|uc003lxo.2,p.S549L|ENST00000274542,p.S549L|uc011ddz.2,p.S538L|NM_001199382,p.S535L|ENST00000519865,p.S521L	retained_intron, protein_coding, processed_transcript	uc011ddz.2	nonsynonymous SNV	exon10	c.C1613T	p.S538L	FLLRRDAVNKIKSLPIATKEQLEKH	FLLRRDAVNKIKLLPIATKEQLEKH	10.0	5.0	-	-	3713_5:158588338-158588338 G>A_FLLRRDAVNKIKLLPIATKEQLEKH
19:2193765-2193765 C>T	1.0	3713	MELANOMA	-	-	-	-	DOT1L	NM_032482,p.P191S|uc002lvb.4,p.P191S|ENST00000452696,p.P167S|ENST00000398665,p.P191S	retained_intron, protein_coding, processed_transcript	uc002lvb.4	nonsynonymous SNV	exon6	c.C571T	p.P191S	CKHHYGVEKADIPAKYAETMDREFR	CKHHYGVEKADISAKYAETMDREFR	6.0	6.0	-	-	3713_19:2193765-2193765 C>T_CKHHYGVEKADISAKYAETMDREFR
6:17637404-17637404 G>A	1.0	3713	MELANOMA	-	-	ID=COSM371549;OCCURENCE=1(lung)	-	NUP153	uc003ncd.2,p.S815F|ENST00000537253,p.S846F|NM_005124,p.S815F|NM_001278209,p.S846F|NM_001278210,p.S773F|uc010jpl.2,p.S773F|uc011dje.2,p.S846F|ENST00000262077,p.S815F	protein_coding	uc011dje.2	nonsynonymous SNV	exon17	c.C2537T	p.S846F	CVSNNAEDNKCVSCMSEKPGSSVPA	CVSNNAEDNKCVFCMSEKPGSSVPA	7.0	7.0	-	-	3713_6:17637404-17637404 G>A_CVSNNAEDNKCVFCMSEKPGSSVPA
8:105521183-105521183 C>T	1.0	3713	MELANOMA	-	-	ID=COSM3431999;OCCURENCE=1(large_intestine)	-	LRP12	uc003yma.3,p.E86K|NM_001135703,p.E67K|uc003ymb.3,p.E67K|ENST00000276654,p.E86K|NM_013437,p.E86K|ENST00000424843,p.E67K	retained_intron, protein_coding, processed_transcript	uc003ymb.3	nonsynonymous SNV	exon2	c.G199A	p.E67K	INCSWFIRANPGEIITISFQDFDIQ	INCSWFIRANPGKIITISFQDFDIQ	6.0	4.0	-	-	3713_8:105521183-105521183 C>T_INCSWFIRANPGKIITISFQDFDIQ
11:95560969-95560969 C>T	1.0	3713	MELANOMA	-	-	-	-	CEP57	ENST00000325486,p.A276V|NM_001243777,p.A276V|uc001pfq.2,p.A276V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001pfq.2	nonsynonymous SNV	exon8	c.C827T	p.A276V	SKPPEKSTSPSHAVVANVQLVLHLM	SKPPEKSTSPSHVVVANVQLVLHLM	8.0	3.0	-	-	3713_11:95560969-95560969 C>T_SKPPEKSTSPSHVVVANVQLVLHLM
4:87968330-87968330 G>A	1.0	3713	MELANOMA	-	-	-	1	AFF1	uc011ccy.2,p.V215I|uc011ccx.2,p.V149I|ENST00000503477,p.V215I|uc003hqk.4,p.V208I|uc003hqh.2,p.V215I|uc003hqj.4,p.V208I|ENST00000395146,p.V215I|NM_005935,p.V208I|ENST00000507468,p.V215I|ENST00000307808,p.V208I|uc011ccz.2,p.V215I|NM_001166693,p.V215I	retained_intron, protein_coding, processed_transcript	uc011ccz.2	nonsynonymous SNV	exon4	c.G643A	p.V215I	RELSPLISLPSPVPPLSPIHSNQQT	RELSPLISLPSPIPPLSPIHSNQQT	7.0	5.0	-	-	3713_4:87968330-87968330 G>A_RELSPLISLPSPIPPLSPIHSNQQT
1:155450922-155450922 G>A	1.0	3713	MELANOMA	-	-	-	-	ASH1L	uc009wqr.1,p.P580L|ENST00000392403,p.P580L|uc009wqq.3,p.P580L|uc001fkt.3,p.P580L|ENST00000368346,p.P580L|NM_018489,p.P580L	retained_intron, protein_coding, nonsense_mediated_decay	uc009wqr.1	nonsynonymous SNV	exon4	c.C1739T	p.P580L	TRSPPETSSQLAPNPLLLSSTTELI	TRSPPETSSQLALNPLLLSSTTELI	6.0	9.0	unscreened	-	3713_1:155450922-155450922 G>A_TRSPPETSSQLALNPLLLSSTTELI
7:92764074-92764074 C>T	1.0	3713	MELANOMA	-	-	-	-	SAMD9L	uc003umh.1,p.G404E|ENST00000437805,p.G404E|uc022ahh.1,p.G404E|NM_152703,p.G404E|uc010lfb.1,p.G404E|uc003umj.1,p.G404E|uc010lfd.1,p.G404E|uc003umk.1,p.G404E|uc003umi.1,p.G404E|ENST00000318238,p.G404E|ENST00000411955,p.G404E|uc010lfc.1,p.G404E	protein_coding, processed_transcript	uc022ahh.1	nonsynonymous SNV	exon1	c.G1211A	p.G404E	ESEGLKLVKLLIGNRDSLDNSYYDW	ESEGLKLVKLLIENRDSLDNSYYDW	9.0	8.0	-	-	3713_7:92764074-92764074 C>T_ESEGLKLVKLLIENRDSLDNSYYDW
4:108866527-108866527 C>T	1.0	3713	MELANOMA	-	-	-	-	CYP2U1	uc003hyp.3,p.L298F|ENST00000332884,p.L298F|uc011cfi.2,p.L89F|NM_183075,p.L298F|ENST00000508453,p.L89F	protein_coding, processed_transcript	uc011cfi.2	nonsynonymous SNV	exon4	c.C265T	p.L89F	ELRQIEKDITSFLKKIIKDHQESLD	ELRQIEKDITSFFKKIIKDHQESLD	8.0	5.0	-	-	3713_4:108866527-108866527 C>T_ELRQIEKDITSFFKKIIKDHQESLD
17:48262928-48262928 G>A	1.0	3713	MELANOMA	-	-	-	1	COL1A1	ENST00000225964,p.P1444S|NM_000088,p.P1444S|uc002iqm.3,p.P1444S	retained_intron, protein_coding	uc002iqm.3	nonsynonymous SNV	exon51	c.C4330T	p.P1444S	TKTSRLPIIDVAPLDVGAPDQEFGF	TKTSRLPIIDVASLDVGAPDQEFGF	10.0	2.0	-	-	3713_17:48262928-48262928 G>A_TKTSRLPIIDVASLDVGAPDQEFGF
3:135721545-135721545 C>T	1.0	3713	MELANOMA	-	-	-	-	PPP2R3A	ENST00000264977,p.P402L|NM_002718,p.P402L|uc003eqv.2,p.P402L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003eqv.2	nonsynonymous SNV	exon2	c.C1205T	p.P402L	AVQVQSQSLTMNPLENVSSDDLMET	AVQVQSQSLTMNLLENVSSDDLMET	5.0	4.0	unscreened	-	3713_3:135721545-135721545 C>T_AVQVQSQSLTMNLLENVSSDDLMET
16:57693432-57693432 C>T	1.0	3713	MELANOMA	-	-	-	-	GPR56	uc002emb.2,p.S471F|NM_001290143,p.S296F|uc002ema.1,p.S296F|uc002emf.2,p.S465F|uc010vhu.1,p.S290F|ENST00000456916,p.S471F|NM_001145772,p.S465F|uc010vht.1,p.S470F|ENST00000388813,p.S465F|NM_001145773,p.S470F|ENST00000544297,p.S290F|uc002emg.3,p.S465F|ENST00000379694,p.S301F|NM_001290142,p.S301F|NM_001145770,p.S465F|ENST00000538815,p.S465F|ENST00000379696,p.S471F|NM_201524,p.S465F|ENST00000540164,p.S465F|NM_005682,p.S471F|uc010vhs.1,p.S471F|NM_001290144,p.S290F|uc002elz.1,p.S301F|ENST00000567835,p.S471F|ENST00000388812,p.S471F|ENST00000568908,p.S465F|ENST00000562631,p.S465F|uc002emd.2,p.S465F|ENST00000568909,p.S471F|uc002emc.2,p.S465F|NM_001145771,p.S471F|NM_201525,p.S465F|ENST00000562558,p.S465F|NM_001145774,p.S465F|uc002eme.2,p.S465F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vhu.1	nonsynonymous SNV	exon11	c.C869T	p.S290F	SFLLSEPVALTGSEAGCRASAIFLH	SFLLSEPVALTGFEAGCRASAIFLH	9.0	7.0	-	-	3713_16:57693432-57693432 C>T_SFLLSEPVALTGFEAGCRASAIFLH
18:59828376-59828376 G>A	1.0	3713	MELANOMA	-	-	-	-	PIGN	ENST00000589720,p.P71S|ENST00000585344,p.P71S|ENST00000585923,p.P71S|ENST00000589339,p.P71S|uc021ulb.1,p.P71S|ENST00000585926,p.P71S|NM_176787,p.P71S|ENST00000400334,p.P71S|ENST00000588571,p.P71S|ENST00000590765,p.P35S|NM_012327,p.P71S|ENST00000357637,p.P71S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ulb.1	nonsynonymous SNV	exon1	c.C211T	p.P71S	LYELDENGNSRAPFIRNIIMHEGSW	LYELDENGNSRASFIRNIIMHEGSW	7.0	8.0	unscreened	-	3713_18:59828376-59828376 G>A_LYELDENGNSRASFIRNIIMHEGSW
1:75217994-75217994 G>A	1.0	3713	MELANOMA	-	-	-	-	TYW3	uc010oqx.2,p.G65S|ENST00000421739,p.G65S	protein_coding, processed_transcript	uc010oqx.2	nonsynonymous SNV	exon2	c.G193A	p.G65S	ILLLDRAVRSTHGLEVPLSHKGKLM	ILLLDRAVRSTHSLEVPLSHKGKLM	8.0	8.0	unscreened	-	3713_1:75217994-75217994 G>A_ILLLDRAVRSTHSLEVPLSHKGKLM
9:117822261-117822261 C>T	1.0	3713	MELANOMA	-	-	-	2	TNC	NM_002160,p.D1352N|uc004bjj.4,p.D1352N|uc010mvf.3,p.D1352N|ENST00000350763,p.D1352N|ENST00000423613,p.D1352N	protein_coding, processed_transcript	uc010mvf.3	nonsynonymous SNV	exon14	c.G4054A	p.D1352N	VEVVTEDLPQLGDLAVSEVGWDGLR	VEVVTEDLPQLGNLAVSEVGWDGLR	10.0	5.0	-	-	3713_9:117822261-117822261 C>T_VEVVTEDLPQLGNLAVSEVGWDGLR
15:89010568-89010568 C>T	1.0	3713	MELANOMA	-	-	-	-	MRPL46	uc002bmj.2,p.G14E|ENST00000560703,p.G14E|NM_022163,p.G14E|ENST00000312475,p.G14E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bmj.2	nonsynonymous SNV	exon1	c.G41A	p.G14E	AAPVRRTLLGVAGGWRRFERLWAGS	AAPVRRTLLGVAEGWRRFERLWAGS	7.0	5.0	unscreened	-	3713_15:89010568-89010568 C>T_AAPVRRTLLGVAEGWRRFERLWAGS
X:55513493-55513493 G>-	1.0	3713	MELANOMA	-	-	-	-	USP51	NM_201286,p.S627fs|uc004dun.2,p.S627fs|ENST00000500968,p.S627fs|uc022bxu.1,p.S627fs	protein_coding, processed_transcript	uc022bxu.1	frameshift deletion	exon1	c.1880delC	p.S627fs	FPLELDMTPFLASTKESRMKEGQPP	FPLELDMTPFLALLKRAE	5.0	10.0	unscreened	-	3713_X:55513493-55513493 G>-_FPLELDMTPFLALLKRAE
10:97096843-97096843 G>A	1.0	3713	MELANOMA	-	-	-	-	SORBS1	ENST00000361941,p.P1025L|uc001kkw.3,p.P979L|ENST00000371227,p.P979L|ENST00000371247,p.P1025L|NM_001034954,p.P1025L|uc001kkp.3,p.P1025L|NM_001290294,p.P979L	protein_coding, processed_transcript, nonsense_mediated_decay	uc001kkw.3	nonsynonymous SNV	exon28	c.C2936T	p.P979L	ASIYNTDHLALSPRASPSLSLSLPH	ASIYNTDHLALSLRASPSLSLSLPH	10.0	6.0	unscreened	-	3713_10:97096843-97096843 G>A_ASIYNTDHLALSLRASPSLSLSLPH
22:32270300-32270300 C>T	1.0	3713	MELANOMA	-	-	-	-	DEPDC5	NM_001242897,p.P1102L|NM_014662,p.P1171L|uc011alu.2,p.P1202L|uc011alx.2,p.P19L|uc003alw.3,p.P469L|ENST00000400249,p.P1171L|uc003alt.3,p.P1193L|ENST00000448753,p.P554L|NM_001242896,p.P1202L|NM_001136029,p.P1193L|ENST00000382105,p.P1124L|uc003alu.3,p.P620L|ENST00000382111,p.P1202L|uc011aly.2,p.P19L|uc011als.2,p.P1102L|ENST00000266091,p.P1180L|ENST00000400248,p.P1171L|ENST00000400246,p.P1202L|ENST00000382112,p.P1193L|ENST00000539165,p.P19L|uc003als.3,p.P1171L|uc010gwk.3,p.P197L|ENST00000535622,p.P1102L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011aly.2	nonsynonymous SNV	exon5	c.C56T	p.P19L	GVQLLSEQKGLSPYCFISAEVVHWL	GVQLLSEQKGLSLYCFISAEVVHWL	3.0	10.0	unscreened	-	3713_22:32270300-32270300 C>T_GVQLLSEQKGLSLYCFISAEVVHWL
14:103915295-103915295 C>T	1.0	3713	MELANOMA	-	-	-	-	MARK3	NM_002376,p.P113S|ENST00000553942,p.P113S|ENST00000303622,p.P113S|NM_001128919,p.P113S|uc010awp.3,p.P113S|NM_001128920,p.P113S|ENST00000416682,p.P113S|ENST00000335102,p.P113S|uc001ymy.4,p.P113S|ENST00000561225,p.P101S|ENST00000216288,p.P113S|ENST00000440884,p.P113S|ENST00000429436,p.P113S|NM_001128921,p.P113S|uc001ymx.4,p.P113S|uc001ymz.4,p.P113S|NM_001128918,p.P113S|uc001yna.4,p.P113S|uc001ymw.4,p.P113S|ENST00000560417,p.P95S	retained_intron, protein_coding, processed_transcript	uc010awp.3	nonsynonymous SNV	exon4	c.C337T	p.P113S	FREVRIMKILNHPNIVKLFEVIETE	FREVRIMKILNHSNIVKLFEVIETE	10.0	7.0	unscreened	-	3713_14:103915295-103915295 C>T_FREVRIMKILNHSNIVKLFEVIETE
20:368770-368770 C>T	1.0	3713	MELANOMA	-	-	-	-	TRIB3	ENST00000217233,p.P39L|NM_001301201,p.P66L|uc002wdm.3,p.P39L|NM_001301193,p.P39L|NM_001301188,p.P39L|uc002wdn.3,p.P66L|ENST00000449710,p.P39L|NM_021158,p.P39L|NM_001301190,p.P39L|NM_001301196,p.P39L|ENST00000422053,p.P66L	protein_coding, processed_transcript	uc002wdn.3	nonsynonymous SNV	exon3	c.C197T	p.P66L	TERPVQKRARSGPQPRLPPCLLPLS	TERPVQKRARSGLQPRLPPCLLPLS	6.0	6.0	-	-	3713_20:368770-368770 C>T_TERPVQKRARSGLQPRLPPCLLPLS
4:71099851-71099851 C>T	1.0	3713	MELANOMA	-	-	-	-	FDCSP	ENST00000317987,p.P69S|NM_152997,p.P69S|uc003hfd.3,p.P69S	protein_coding	uc003hfd.3	nonsynonymous SNV	exon4	c.C205T	p.P69S	PFPRFPWFRRNFPIPIPESAPTTPL	PFPRFPWFRRNFSIPIPESAPTTPL	6.0	9.0	unscreened	-	3713_4:71099851-71099851 C>T_PFPRFPWFRRNFSIPIPESAPTTPL
14:71575489-71575489 C>T	1.0	3713	MELANOMA	-	-	-	-	PCNX	uc010arf.1,p.S945L|ENST00000238570,p.S2085L|NM_014982,p.S2157L|uc001xmo.2,p.S2157L|ENST00000304743,p.S2157L|ENST00000439984,p.S2046L|uc001xmp.2,p.S241L|uc010are.1,p.S2046L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010arf.1	nonsynonymous SNV	exon23	c.C2834T	p.S945L	FVPCRRSSTSQISLRNLPSSIQSRL	FVPCRRSSTSQILLRNLPSSIQSRL	6.0	3.0	-	-	3713_14:71575489-71575489 C>T_FVPCRRSSTSQILLRNLPSSIQSRL
1:8420238-8420238 G>A	1.0	3713	MELANOMA	-	-	-	-	RERE	ENST00000337907,p.P1110L|ENST00000476556,p.P556L|uc010nzx.1,p.P842L|NM_012102,p.P1110L|uc001ape.3,p.P1110L|NM_001042682,p.P556L|NM_001042681,p.P1110L|uc001apd.3,p.P556L|ENST00000400908,p.P1110L|ENST00000377464,p.P842L|uc001apf.3,p.P1110L	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc010nzx.1	nonsynonymous SNV	exon12	c.C2525T	p.P842L	LDDAEEPESPPPPPRSPSPEPTVVD	LDDAEEPESPPPLPRSPSPEPTVVD	7.0	9.0	-	-	3713_1:8420238-8420238 G>A_LDDAEEPESPPPLPRSPSPEPTVVD
8:23159556-23159556 C>T	1.0	3713	MELANOMA	-	-	-	-	LOXL2	uc003xdh.1,p.G706E|ENST00000389131,p.G706E|NM_002318,p.G706E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xdh.1	nonsynonymous SNV	exon12	c.G2117A	p.G706E	DCQWVDITDVPPGDYLFQVVINPNF	DCQWVDITDVPPEDYLFQVVINPNF	6.0	4.0	-	-	3713_8:23159556-23159556 C>T_DCQWVDITDVPPEDYLFQVVINPNF
3:52455008-52455008 C>T	1.0	3713	MELANOMA	-	-	-	-	PHF7	NM_016483,p.S168F|ENST00000347025,p.S168F|uc003ddy.3,p.S168F|ENST00000478707,p.S168F|NM_001278221,p.S168F|ENST00000327906,p.S168F|uc003ddz.3,p.S168F	retained_intron, protein_coding, processed_transcript	uc003ddz.3	nonsynonymous SNV	exon7	c.C503T	p.S168F	GEESCILCCEDLSQQSVENIQSPCC	GEESCILCCEDLFQQSVENIQSPCC	8.0	2.0	-	-	3713_3:52455008-52455008 C>T_GEESCILCCEDLFQQSVENIQSPCC
5:154214236-154214236 C>T	1.0	3713	MELANOMA	-	-	-	-	FAXDC2	ENST00000518651,p.E42K|ENST00000326080,p.E65K|uc011dde.2,p.E42K|uc003lvs.4,p.E65K|ENST00000524363,p.E42K|NM_032385,p.E65K|ENST00000517938,p.E42K|ENST00000520968,p.E65K|ENST00000519501,p.E42K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dde.2	nonsynonymous SNV	exon3	c.G124A	p.E42K	WGASGYFWQAQWERLLTTFEGKEWI	WGASGYFWQAQWKRLLTTFEGKEWI	9.0	10.0	unscreened	-	3713_5:154214236-154214236 C>T_WGASGYFWQAQWKRLLTTFEGKEWI
X:79699096-79699096 C>T	1.0	3713	MELANOMA	-	-	-	-	FAM46D	uc022bzm.1,p.P353L|ENST00000308293,p.P353L|NM_152630,p.P353L|NM_001170574,p.P353L|uc004edm.2,p.P353L|uc004edl.1,p.P353L|ENST00000538312,p.P353L	protein_coding	uc022bzm.1	nonsynonymous SNV	exon1	c.C1058T	p.P353L	NTQKVTCFYQPAPYFAAEARYPIYV	NTQKVTCFYQPALYFAAEARYPIYV	1.0	7.0	unscreened	-	3713_X:79699096-79699096 C>T_NTQKVTCFYQPALYFAAEARYPIYV
9:138754401-138754401 C>A	1.0	3713	MELANOMA	-	-	-	-	CAMSAP1	uc004cgq.4,p.L130F|uc004cgr.4,p.L240F|NM_015447,p.L240F|ENST00000409386,p.L251F|ENST00000389532,p.L240F	retained_intron, protein_coding, processed_transcript	uc004cgr.4	nonsynonymous SNV	exon5	c.G720T	p.L240F	EHLSARQSPYFPLLEDLMRDGSDGA	EHLSARQSPYFPFLEDLMRDGSDGA	5.0	3.0	-	-	3713_9:138754401-138754401 C>A_EHLSARQSPYFPFLEDLMRDGSDGA
4:152024062-152024062 G>A	1.0	3713	MELANOMA	-	-	-	-	RPS3A	ENST00000512690,p.G132S|uc003ilz.4,p.G132S|ENST00000515792,p.G76S|ENST00000509736,p.G13S|uc011cie.2,p.G132S|ENST00000507327,p.G95S|ENST00000274065,p.G132S|ENST00000322686,p.G119S|NM_001006,p.G132S|ENST00000512797,p.G127S|ENST00000514682,p.G95S|ENST00000508783,p.G95S|ENST00000510993,p.G112S|ENST00000506126,p.G95S	retained_intron, protein_coding, nonsense_mediated_decay	uc011cie.2	nonsynonymous SNV	exon4	c.G394A	p.G132S	MIEAHVDVKTTDGYLLRLFCVGFTK	MIEAHVDVKTTDSYLLRLFCVGFTK	10.0	1.0	unscreened	-	3713_4:152024062-152024062 G>A_MIEAHVDVKTTDSYLLRLFCVGFTK
4:57211390-57211390 G>A	1.0	3713	MELANOMA	-	-	-	-	AASDH	NM_001286669,p.T699I|NM_001286670,p.T367I|NM_181806,p.T852I|NM_001286668,p.T752I|uc003hbn.3,p.T852I|ENST00000434343,p.T367I|uc011cab.2,p.T367I|uc010ihb.3,p.T367I|ENST00000513376,p.T752I|uc003hbo.3,p.T752I|ENST00000205214,p.T852I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cab.2	nonsynonymous SNV	exon9	c.C1100T	p.T367I	KSNSGEKYWMFTTEDAVKSSATMDP	KSNSGEKYWMFTIEDAVKSSATMDP	7.0	7.0	unscreened	-	3713_4:57211390-57211390 G>A_KSNSGEKYWMFTIEDAVKSSATMDP
13:38237742-38237742 G>A	1.0	3713	MELANOMA	-	-	-	-	TRPC4	uc010abw.3,p.S327F|ENST00000379673,p.S500F|uc010abx.3,p.S500F|uc001uws.3,p.S500F|ENST00000379705,p.S500F|ENST00000379679,p.S327F|uc001uwt.3,p.S500F|ENST00000379681,p.S500F|NM_016179,p.S500F|NM_001135957,p.S500F|NM_001135955,p.S500F|ENST00000447043,p.S500F|ENST00000355779,p.S500F|uc010aby.3,p.S500F|uc010tey.2,p.S500F|NM_001135958,p.S327F|uc010abv.3,p.S80F|ENST00000338947,p.S327F|ENST00000358477,p.S500F|NM_001135956,p.S500F|NM_003306,p.S500F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tey.2	nonsynonymous SNV	exon6	c.C1499T	p.S500F	SSLRLISLFTANSHLGPLQISLGRM	SSLRLISLFTANFHLGPLQISLGRM	1.0	10.0	-	-	3713_13:38237742-38237742 G>A_SSLRLISLFTANFHLGPLQISLGRM
8:28991588-28991588 G>A	1.0	3713	MELANOMA	-	-	-	-	KIF13B	uc003xhh.4,p.P918L|ENST00000524189,p.P918L|NM_015254,p.P918L	retained_intron, protein_coding, nonsense_mediated_decay	uc003xhh.4	nonsynonymous SNV	exon22	c.C2753T	p.P918L	EVDTSSSSVSKEPHCMVVFDHCNEF	EVDTSSSSVSKELHCMVVFDHCNEF	5.0	9.0	-	-	3713_8:28991588-28991588 G>A_EVDTSSSSVSKELHCMVVFDHCNEF
6:143092287-143092287 G>A	1.0	3713	MELANOMA	-	-	-	-	HIVEP2	ENST00000367604,p.P1197S|ENST00000012134,p.P1197S|NM_006734,p.P1197S|ENST00000367603,p.P1197S|uc003qjd.3,p.P1197S	protein_coding, processed_transcript	uc003qjd.3	nonsynonymous SNV	exon5	c.C3589T	p.P1197S	EQPHLFPHQETIPFSPIQNALFQFQ	EQPHLFPHQETISFSPIQNALFQFQ	6.0	2.0	-	-	3713_6:143092287-143092287 G>A_EQPHLFPHQETISFSPIQNALFQFQ
18:10770149-10770149 T>A	1.0	3713	MELANOMA	-	-	-	-	PIEZO2	uc002kou.2,p.K310N|NM_022068,p.K956N|uc002kos.2,p.K956N|ENST00000503781,p.K956N|ENST00000302079,p.K956N|ENST00000383408,p.K244N|ENST00000580640,p.K981N|ENST00000582913,p.K970N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kou.2	nonsynonymous SNV	exon7	c.A930T	p.K310N	KIVSSYIIWVSVKEVSLFNYVFLIS	KIVSSYIIWVSVNEVSLFNYVFLIS	2.0	6.0	unscreened	-	3713_18:10770149-10770149 T>A_KIVSSYIIWVSVNEVSLFNYVFLIS
18:44426698-44426698 G>A	1.0	3713	MELANOMA	-	-	ID=COSM1711306,COSM1711305;OCCURENCE=1(skin)	-	PIAS2	uc002lck.3,p.S278F|ENST00000585916,p.S278F|ENST00000324794,p.S278F|uc002lcm.3,p.S278F|uc002lcn.1,p.S282F|NM_004671,p.S278F|uc002lcl.3,p.S278F|NM_173206,p.S278F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002lcn.1	nonsynonymous SNV	exon6	c.C845T	p.S282F	LVRLSSAVPNQISISWASEIGKNYS	LVRLSSAVPNQIFISWASEIGKNYS	7.0	2.0	-	-	3713_18:44426698-44426698 G>A_LVRLSSAVPNQIFISWASEIGKNYS
1:89475120-89475120 G>T	1.0	3713	MELANOMA	-	-	-	-	GBP3	ENST00000370481,p.L474I|uc010oss.2,p.L395I|NM_018284,p.L474I|ENST00000445969,p.L54I|uc001dmu.3,p.L340I|uc021opp.1,p.L447I|uc001dmt.3,p.L474I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021opp.1	nonsynonymous SNV	exon9	c.C1339A	p.L447I	YLKSKESVTDAILQTDQILTEKEKE	YLKSKESVTDAIIQTDQILTEKEKE	8.0	1.0	unscreened	-	3713_1:89475120-89475120 G>T_YLKSKESVTDAIIQTDQILTEKEKE
18:19029666-19029666 C>T	1.0	3713	MELANOMA	-	-	-	-	GREB1L	uc002ktf.1,p.S530F|ENST00000400483,p.S530F|ENST00000581327,p.S24F|NM_001142966,p.S530F|ENST00000431264,p.S530F|ENST00000424526,p.S530F|ENST00000580732,p.S530F|uc010xam.2,p.S530F	retained_intron, protein_coding, processed_transcript	uc010xam.2	nonsynonymous SNV	exon12	c.C1589T	p.S530F	SQDLVHVVVTQNSLAEGISETLRTL	SQDLVHVVVTQNFLAEGISETLRTL	1.0	5.0	unscreened	-	3713_18:19029666-19029666 C>T_SQDLVHVVVTQNFLAEGISETLRTL
8:23159556-23159556 C>T	1.0	3713	MELANOMA	-	-	-	-	LOXL2	uc010lty.1,p.G245E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lty.1	nonsynonymous SNV	exon5	c.G734A	p.G245E	DCQWVDITDVPPGDYLFQVVPSAKR	DCQWVDITDVPPEDYLFQVVPSAKR	6.0	4.0	-	-	3713_8:23159556-23159556 C>T_DCQWVDITDVPPEDYLFQVVPSAKR
20:33934891-33934891 T>C	1.0	3713	MELANOMA	-	-	-	-	UQCC1	ENST00000397554,p.K217E|uc002xci.1,p.K171E|uc010gfd.2,p.K203E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010gfd.2	nonsynonymous SNV	exon7	c.A607G	p.K203E	REGFEFGVLSVVKWPCF	REGFEFGVLSVVEWPCF	10.0	9.0	-	-	3713_20:33934891-33934891 T>C_REGFEFGVLSVVEWPCF
4:40829157-40829157 G>A	1.0	3713	MELANOMA	-	-	-	-	APBB2	uc003gvm.3,p.P553L|ENST00000513140,p.P553L|NM_173075,p.P553L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gvm.3	nonsynonymous SNV	exon13	c.C1658T	p.P553L	SLQERANVNLDVPLQDFPTPKTELV	SLQERANVNLDVLLQDFPTPKTELV	7.0	5.0	-	-	3713_4:40829157-40829157 G>A_SLQERANVNLDVLLQDFPTPKTELV
4:25849296-25849296 G>A	0.0	3713	MELANOMA	-	-	-	-	SEL1L3	ENST00000399878,p.S118L|uc003gru.4,p.S118L|ENST00000264868,p.S83L|NM_015187,p.S118L|NM_001297592,p.S83L	retained_intron, protein_coding, processed_transcript	uc003gru.4	nonsynonymous SNV	exon2	c.C353T	p.S118L	SQPCVVNLEAVVSSEFRSSIPVYKK	SQPCVVNLEAVVLSEFRSSIPVYKK	9.0	4.0	unscreened	-	3713_4:25849296-25849296 G>A_SQPCVVNLEAVVLSEFRSSIPVYKK
10:48429501-48429501 G>A	0.0	3713	MELANOMA	-	-	-	-	GDF10	uc009xnp.3,p.L128F|uc009xnq.2,p.L129F|ENST00000224605,p.L129F|NM_004962,p.L129F|uc001jfb.3,p.L129F	protein_coding	uc009xnq.2	nonsynonymous SNV	exon2	c.C385T	p.L129F	FNLTSMQDSEMILTATFHFYSEPPR	FNLTSMQDSEMIFTATFHFYSEPPR	1.0	5.0	unscreened	-	3713_10:48429501-48429501 G>A_FNLTSMQDSEMIFTATFHFYSEPPR
8:142264149-142264149 A>T	0.0	3713	MELANOMA	-	-	-	-	SLC45A4	ENST00000517878,p.F60L|NM_001286646,p.F60L	protein_coding, processed_transcript	NM_001286646	nonsynonymous SNV	exon1	c.T180A	p.F60L	PMRLWVMHGAVMFGREFCYAMETAL	PMRLWVMHGAVMLGREFCYAMETAL	6.0	1.0	unscreened	-	3713_8:142264149-142264149 A>T_PMRLWVMHGAVMLGREFCYAMETAL
1:52520755-52520755 G>A	1.0	3713	MELANOMA	-	-	-	-	TXNDC12	NM_015913,p.P5L|ENST00000371626,p.P5L|uc001cti.4,p.P5L	protein_coding, processed_transcript	uc001cti.4	nonsynonymous SNV	exon1	c.C14T	p.P5L	METRPRLGATCLLGFSF	METRLRLGATCLLGFSF	9.0	7.0	-	-	3713_1:52520755-52520755 G>A_METRLRLGATCLLGFSF
15:40099220-40099220 T>A	1.0	3713	MELANOMA	-	-	-	-	GPR176	uc010uck.2,p.I93F|NM_001271854,p.I137F|uc001zkj.2,p.I138F|uc001zkk.2,p.I137F|NM_001271855,p.I93F|NM_007223,p.I138F|ENST00000561100,p.I138F|ENST00000543580,p.I93F|ENST00000299092,p.I137F	protein_coding, processed_transcript	uc010uck.2	nonsynonymous SNV	exon2	c.A277T	p.I93F	VFCSVTILSFPAIALDRYYSVLYPL	VFCSVTILSFPAFALDRYYSVLYPL	4.0	8.0	-	-	3713_15:40099220-40099220 T>A_VFCSVTILSFPAFALDRYYSVLYPL
17:59482955-59482955 C>T	1.0	3713	MELANOMA	-	-	-	-	TBX2	ENST00000240328,p.P482S|NM_005994,p.P482S|uc010wox.2,p.P482S|uc002izg.3,p.P328S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wox.2	nonsynonymous SNV	exon6	c.C1444T	p.P482S	FSSHLHGQQFFGPLGAGQPLFLHPG	FSSHLHGQQFFGSLGAGQPLFLHPG	8.0	2.0	unscreened	-	3713_17:59482955-59482955 C>T_FSSHLHGQQFFGSLGAGQPLFLHPG
11:119206488-119206488 T>A	1.0	3713	MELANOMA	-	-	-	-	RNF26	uc001pwh.3,p.L219H|ENST00000311413,p.L219H|NM_032015,p.L219H	protein_coding	uc001pwh.3	nonsynonymous SNV	exon1	c.T656A	p.L219H	QLALELLASAARLLASFVLVNLTGL	QLALELLASAARHLASFVLVNLTGL	7.0	8.0	-	-	3713_11:119206488-119206488 T>A_QLALELLASAARHLASFVLVNLTGL
2:135711995-135711995 C>T	1.0	3713	MELANOMA	-	-	-	-	CCNT2	uc002tud.2,p.S320F|ENST00000264157,p.S657F|NM_058241,p.S657F|uc002tuc.2,p.S657F	retained_intron, protein_coding, nonsense_mediated_decay	uc002tud.2	nonsynonymous SNV	exon10	c.C959T	p.S320F	SSSSSSVKQYISSHNSVFNHPLPPP	SSSSSSVKQYISFHNSVFNHPLPPP	6.0	4.0	unscreened	-	3713_2:135711995-135711995 C>T_SSSSSSVKQYISFHNSVFNHPLPPP
X:31893388-31893388 G>A	0.0	3713	MELANOMA	-	-	-	-	DMD	NM_004011,p.H998Y|ENST00000378677,p.H2335Y|NM_004012,p.H995Y|uc004dda.1,p.H2339Y|NM_004010,p.H2216Y|NM_004009,p.H2335Y|NM_004006,p.H2339Y|NM_000109,p.H2331Y|uc004dcw.2,p.H995Y|uc004dcx.2,p.H998Y|ENST00000357033,p.H2339Y|ENST00000358062,p.H35Y|uc004dcy.1,p.H2335Y|uc004ddb.1,p.H2331Y|uc004dcz.2,p.H2216Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004ddb.1	nonsynonymous SNV	exon48	c.C6991T	p.H2331Y	EKKLEDLEEQLNHLLLWLSPIRNQL	EKKLEDLEEQLNYLLLWLSPIRNQL	8.0	10.0	-	-	3713_X:31893388-31893388 G>A_EKKLEDLEEQLNYLLLWLSPIRNQL
12:27467532-27467532 C>T	0.0	3713	MELANOMA	-	-	-	-	STK38L	NM_015000,p.H205Y|ENST00000536093,p.H13Y|ENST00000545470,p.H164Y|ENST00000389032,p.H205Y|uc010sjm.2,p.H112Y|ENST00000539577,p.H112Y|uc001rhr.3,p.H205Y	retained_intron, protein_coding, nonsense_mediated_decay	uc010sjm.2	nonsynonymous SNV	exon5	c.C334T	p.H112Y	YISETVLAIDAIHQLGFIHRDIKPD	YISETVLAIDAIYQLGFIHRDIKPD	5.0	3.0	unscreened	-	3713_12:27467532-27467532 C>T_YISETVLAIDAIYQLGFIHRDIKPD
3:111564691-111564691 C>T	1.0	3713	MELANOMA	-	-	-	-	PLCXD2	uc003dxz.3,p.P297L|NM_153268,p.P297L|ENST00000393934,p.P297L	retained_intron, protein_coding, processed_transcript	uc003dxz.3	nonsynonymous SNV	exon4	c.C890T	p.P297L	TLVHRLALIPVYPLRFSRRS	TLVHRLALIPVYLLRFSRRS	1.0	2.0	-	-	3713_3:111564691-111564691 C>T_TLVHRLALIPVYLLRFSRRS
9:117853246-117853246 G>A	1.0	3713	MELANOMA	-	-	-	2	TNC	ENST00000341037,p.L18F|uc022bmj.1,p.L18F|ENST00000534839,p.L18F|ENST00000346706,p.L18F|ENST00000542877,p.L18F|ENST00000345230,p.L18F|ENST00000423613,p.L18F|NM_002160,p.L18F|uc004bjj.4,p.L18F|uc010mvf.3,p.L18F|ENST00000535648,p.L18F|ENST00000350763,p.L18F|ENST00000537320,p.L18F|ENST00000340094,p.L18F	protein_coding, processed_transcript	uc022bmj.1	nonsynonymous SNV	exon1	c.C52T	p.L18F	QLLAGVFLAFLALATEGGVLKKVIR	QLLAGVFLAFLAFATEGGVLKKVIR	10.0	3.0	unscreened	-	3713_9:117853246-117853246 G>A_QLLAGVFLAFLAFATEGGVLKKVIR
9:7128126-7128126 A>T	1.0	3713	MELANOMA	-	-	-	-	KDM4C	ENST00000381309,p.N891Y|NM_001146694,p.N891Y|uc003zkh.3,p.N891Y|uc011lml.2,p.N578Y|ENST00000420847,p.N268Y|uc003zkg.3,p.N891Y|NM_015061,p.N891Y|ENST00000442236,p.N636Y|ENST00000428870,p.N578Y|ENST00000381306,p.N891Y|uc011lmk.2,p.N636Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc011lml.2	nonsynonymous SNV	exon12	c.A1732T	p.N578Y	ISVGQTVITKHRNTRYYSCRVMAVT	ISVGQTVITKHRYTRYYSCRVMAVT	6.0	8.0	-	-	3713_9:7128126-7128126 A>T_ISVGQTVITKHRYTRYYSCRVMAVT
7:143400301-143400301 A>G	1.0	3713	MELANOMA	-	rs1568852	ID=COSM3366838;OCCURENCE=1(thyroid),1(breast),1(kidney)	-	FAM115C	uc003wdh.3,p.T72A|NM_001130025,p.T72A|ENST00000441159,p.T72A|uc003wdf.3,p.T72A|ENST00000357344,p.T72A|NM_173678,p.T72A|ENST00000444908,p.T72A	protein_coding	uc003wdh.3	nonsynonymous SNV	exon2	c.A214G	p.T72A	LVVVSHEGYLSHTGLAPFLLNAVSW	LVVVSHEGYLSHAGLAPFLLNAVSW	5.0	1.0	unscreened	-	3713_7:143400301-143400301 A>G_LVVVSHEGYLSHAGLAPFLLNAVSW
6:43172719-43172719 C>T	1.0	3713	MELANOMA	-	-	-	-	CUL9	uc003ouk.3,p.R1500C|uc003oul.3,p.R1500C|uc010jyk.3,p.R652C|ENST00000354495,p.R1390C|NM_015089,p.R1500C|ENST00000372647,p.R1500C|ENST00000252050,p.R1500C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jyk.3	nonsynonymous SNV	exon22	c.C1954T	p.R652C	LAAAWRAPDFVPRYCKLYEHLQRAG	LAAAWRAPDFVPCYCKLYEHLQRAG	8.0	2.0	-	-	3713_6:43172719-43172719 C>T_LAAAWRAPDFVPCYCKLYEHLQRAG
1:231155646-231155646 G>A	1.0	3713	MELANOMA	-	-	-	-	FAM89A	ENST00000366654,p.S173F|uc001hui.2,p.S173F|NM_198552,p.S173F	protein_coding, processed_transcript	uc001hui.2	nonsynonymous SNV	exon2	c.C518T	p.S173F	RGPPRDLSLPVSSLSSSDWILESI	RGPPRDLSLPVSFLSSSDWILESI	4.0	4.0	unscreened	-	3713_1:231155646-231155646 G>A_RGPPRDLSLPVSFLSSSDWILESI
4:151199078-151199078 C>T	1.0	3713	MELANOMA	-	-	-	-	LRBA	uc010ipj.3,p.D2810N|uc003ilt.4,p.D1458N|ENST00000535741,p.D2799N|NM_001199282,p.D2798N|uc003ils.4,p.D705N|ENST00000357115,p.D2810N|uc003ilu.4,p.D2798N|uc003ilr.4,p.D230N|ENST00000510413,p.D2798N|uc010ipi.3,p.D332N|NM_006726,p.D2810N	retained_intron, protein_coding, processed_transcript	uc010ipj.3	nonsynonymous SNV	exon57	c.G8428A	p.D2810N	GDRGVVVVRQVSDLKQLFAYPGCDA	GDRGVVVVRQVSNLKQLFAYPGCDA	6.0	5.0	-	-	3713_4:151199078-151199078 C>T_GDRGVVVVRQVSNLKQLFAYPGCDA
14:99927578-99927578 A>G	1.0	3713	MELANOMA	-	-	-	-	SETD3	uc001ygf.3,p.V99A|uc001ygd.3,p.V99A|uc001ygc.3,p.V99A|ENST00000436070,p.V99A|ENST00000331768,p.V99A|uc031qqj.1,p.V99A|ENST00000329331,p.V99A|NM_199123,p.V99A|NM_032233,p.V99A|uc021sbn.1,p.V99A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qqj.1	nonsynonymous SNV	exon4	c.T296C	p.V99A	SENGASVEGFEMVNFKEEGFGLRAT	SENGASVEGFEMANFKEEGFGLRAT	8.0	9.0	-	-	3713_14:99927578-99927578 A>G_SENGASVEGFEMANFKEEGFGLRAT
4:3424704-3424704 C>T	1.0	3713	MELANOMA	-	-	ID=COSM1310020;OCCURENCE=1(urinary_tract)	-	RGS12	NM_198229,p.R1036W|uc003ggz.3,p.R388W|ENST00000336727,p.R1036W|uc003ghb.2,p.R235W|ENST00000306648,p.R434W|uc011bvs.2,p.R378W|ENST00000382788,p.R1036W|uc010icu.1,p.R235W|uc003gha.3,p.R378W|uc003ggv.3,p.R1036W|uc003ggy.1,p.R434W|NM_002926,p.R1036W|ENST00000338806,p.R388W|ENST00000538395,p.R378W|ENST00000344733,p.R1036W|NM_198227,p.R388W|uc010icv.3,p.R235W|uc003ggw.3,p.R1036W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bvs.2	nonsynonymous SNV	exon9	c.C1132T	p.R378W	SRDLRLEKRTLFRLDLVPINRSVGL	SRDLRLEKRTLFWLDLVPINRSVGL	6.0	5.0	unscreened	-	3713_4:3424704-3424704 C>T_SRDLRLEKRTLFWLDLVPINRSVGL
10:45472922-45472922 G>A	1.0	3713	MELANOMA	-	-	-	-	C10orf10	uc001jbr.4,p.A186V|NM_007021,p.A186V|ENST00000298295,p.A186V|uc021ppn.1,p.A186V	protein_coding, processed_transcript	uc021ppn.1	nonsynonymous SNV	exon1	c.C557T	p.A186V	DLRSWTFGQSAQAMASRHRPRPSSV	DLRSWTFGQSAQVMASRHRPRPSSV	8.0	5.0	-	-	3713_10:45472922-45472922 G>A_DLRSWTFGQSAQVMASRHRPRPSSV
21:37418206-37418206 G>A	1.0	3713	MELANOMA	-	-	-	-	SETD4	NM_001007261,p.P110S|ENST00000399212,p.P110S|ENST00000399207,p.P134S|uc002yux.2,p.P110S|uc002yuz.3,p.P110S|ENST00000332131,p.P134S|uc021wiy.1,p.P134S|uc002yuy.3,p.P134S|NM_017438,p.P134S|ENST00000399215,p.P134S|ENST00000446166,p.P110S|ENST00000429161,p.P134S|uc002yuw.2,p.P134S|NM_001007259,p.P134S|ENST00000424303,p.P134S|ENST00000399205,p.P110S|uc002yva.3,p.P110S|ENST00000399208,p.P134S|ENST00000399201,p.P110S|NM_001286752,p.P110S	retained_intron, protein_coding, processed_transcript	uc021wiy.1	nonsynonymous SNV	exon6	c.C400T	p.P134S	HRSLWKPYLEILPKAYTCPVCLEPE	HRSLWKPYLEILSKAYTCPVCLEPE	8.0	9.0	-	-	3713_21:37418206-37418206 G>A_HRSLWKPYLEILSKAYTCPVCLEPE
3:14712469-14712469 C>T	1.0	3713	MELANOMA	-	-	-	-	CCDC174	uc010hej.3,p.A220V|ENST00000303688,p.A315V|ENST00000383794,p.A391V|uc003byw.3,p.A391V|NM_016474,p.A391V	retained_intron, protein_coding, processed_transcript	uc010hej.3	nonsynonymous SNV	exon6	c.C659T	p.A220V	QSDLRAERDPEFAPPSDYFVGQKRT	QSDLRAERDPEFVPPSDYFVGQKRT	6.0	10.0	-	-	3713_3:14712469-14712469 C>T_QSDLRAERDPEFVPPSDYFVGQKRT
2:43814067-43814067 A>C	1.0	3713	MELANOMA	-	-	-	-	THADA	NM_001271644,p.L126W|NM_001271643,p.L126W|ENST00000405975,p.L126W|ENST00000402360,p.L126W|NM_001083953,p.L126W|uc002rtc.4,p.L126W|uc002rsx.4,p.L126W|ENST00000398653,p.L126W|NM_022065,p.L126W|ENST00000404790,p.L126W|uc002rtd.3,p.L126W|ENST00000408045,p.L126W|ENST00000403856,p.L126W|uc002rsw.4,p.L126W|ENST00000405006,p.L126W|uc002rtb.2,p.L126W|ENST00000474159,p.L126W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002rtd.3	nonsynonymous SNV	exon6	c.T377G	p.L126W	AMHRFTSRLQEELNTTDLYSYRKVT	AMHRFTSRLQEEWNTTDLYSYRKVT	4.0	6.0	-	-	3713_2:43814067-43814067 A>C_AMHRFTSRLQEEWNTTDLYSYRKVT
5:71627141-71627141 T>A	1.0	3713	MELANOMA	-	-	-	-	PTCD2	ENST00000543322,p.F136Y|uc003kcb.3,p.F136Y|ENST00000308077,p.F136Y|NM_024754,p.F136Y|ENST00000515198,p.F136Y|ENST00000380639,p.F136Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc003kcb.3	nonsynonymous SNV	exon4	c.T407A	p.F136Y	NFTLGEYKFGPLFVRLCYELDLEES	NFTLGEYKFGPLYVRLCYELDLEES	4.0	7.0	-	-	3713_5:71627141-71627141 T>A_NFTLGEYKFGPLYVRLCYELDLEES
1:247264028-247264028 G>A	1.0	3713	MELANOMA	-	-	ID=COSM1690072;OCCURENCE=1(skin)	-	ZNF669	ENST00000448299,p.S262F|uc001icf.2,p.S262F|ENST00000343381,p.S348F|NM_001142572,p.S262F|uc001ice.2,p.S348F|NM_024804,p.S348F	protein_coding	uc001icf.2	nonsynonymous SNV	exon4	c.C785T	p.S262F	CTKCDKAFSCSTSLRYHGSIHTGER	CTKCDKAFSCSTFLRYHGSIHTGER	4.0	6.0	unscreened	-	3713_1:247264028-247264028 G>A_CTKCDKAFSCSTFLRYHGSIHTGER
3:184049058-184049058 C>T	1.0	3713	MELANOMA	-	-	-	-	EIF4G1	uc003fnt.3,p.P1100L|uc010hxx.3,p.P1396L|ENST00000382330,p.P1396L|ENST00000441154,p.P1226L|ENST00000319274,p.P1389L|uc003fnp.3,p.P1389L|uc003fnx.3,p.P1194L|uc003fnv.4,p.P1390L|ENST00000411531,p.P1350L|ENST00000342981,p.P1390L|uc003fnw.3,p.P1396L|ENST00000427845,p.P1303L|ENST00000424196,p.P1396L|ENST00000434061,p.P1194L|NM_198241,p.P1389L|NM_001194946,p.P1396L|ENST00000435046,p.P1193L|NM_198244,p.P1302L|NM_198242,p.P1225L|ENST00000346169,p.P1389L|NM_001291157,p.P1349L|NM_001194947,p.P1396L|ENST00000352767,p.P1396L|uc010hxy.3,p.P1396L|uc003fns.3,p.P1349L|ENST00000350481,p.P1225L|ENST00000392537,p.P1302L|ENST00000414031,p.P1349L|NM_182917,p.P1390L|uc003fnq.3,p.P1302L|uc003fnr.3,p.P1225L|NM_004953,p.P1194L	retained_intron, protein_coding, nonsense_mediated_decay	uc010hxy.3	nonsynonymous SNV	exon29	c.C4187T	p.P1396L	LEILGLLCKSMGPKKVGTLWREAGL	LEILGLLCKSMGLKKVGTLWREAGL	10.0	6.0	unscreened	-	3713_3:184049058-184049058 C>T_LEILGLLCKSMGLKKVGTLWREAGL
X:117043315-117043315 G>A	1.0	3713	MELANOMA	-	-	-	-	KLHL13	uc004eqk.3,p.L388F|uc011mtn.2,p.L279F|uc004eqm.3,p.L397F|NM_001168301,p.L423F|uc011mtp.2,p.L442F|uc004eql.3,p.L439F|NM_001168302,p.L423F|uc022cde.1,p.L423F|ENST00000447671,p.L388F|ENST00000371878,p.L388F|NM_033495,p.L439F|NM_001168299,p.L442F|NM_001168303,p.L397F|ENST00000541812,p.L423F|ENST00000539496,p.L442F|uc011mto.2,p.L433F|ENST00000469946,p.L388F|ENST00000262820,p.L439F|ENST00000371876,p.L388F|ENST00000371882,p.L388F|NM_001168300,p.L433F|ENST00000540167,p.L423F|uc011mtq.2,p.L423F|ENST00000545703,p.L397F	protein_coding	uc022cde.1	nonsynonymous SNV	exon6	c.C1267T	p.L423F	LNEKRTFFHLSALKGYLYAVGGRNA	LNEKRTFFHLSAFKGYLYAVGGRNA	1.0	10.0	unscreened	-	3713_X:117043315-117043315 G>A_LNEKRTFFHLSAFKGYLYAVGGRNA
11:44958855-44958855 C>T	1.0	3713	MELANOMA	-	-	-	-	TP53I11	ENST00000525145,p.M79I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000525145	nonsynonymous SNV	exon4	c.G237A	p.M79I	FVSAVLFSGIAIMVSPHPQPLRSGP	FVSAVLFSGIAIIVSPHPQPLRSGP	6.0	4.0	unscreened	-	3713_11:44958855-44958855 C>T_FVSAVLFSGIAIIVSPHPQPLRSGP
1:159176209-159176209 C>T	1.0	3713	MELANOMA	-	-	-	-	ACKR1	ENST00000537147,p.S327F|uc001fto.3,p.S327F|ENST00000368121,p.S329F|uc001ftp.4,p.S329F|NM_001122951,p.S329F|ENST00000368122,p.S327F|NM_002036,p.S327F	protein_coding	uc001ftp.4	nonsynonymous SNV	exon1	c.C986T	p.S329F	LLPSLPLPEGWSSHLDTLGSKS	LLPSLPLPEGWSFHLDTLGSKS	7.0	4.0	-	-	3713_1:159176209-159176209 C>T_LLPSLPLPEGWSFHLDTLGSKS
6:32096846-32096846 G>A	1.0	3713	MELANOMA	-	-	-	-	FKBPL	NM_022110,p.R238W|ENST00000375156,p.R238W|uc003nzr.3,p.R238W|uc021yvh.1,p.R238W	protein_coding	uc021yvh.1	nonsynonymous SNV	exon1	c.C712T	p.R238W	PEGAARCYGRALRLLLTLPPPGPPE	PEGAARCYGRALWLLLTLPPPGPPE	6.0	8.0	-	-	3713_6:32096846-32096846 G>A_PEGAARCYGRALWLLLTLPPPGPPE
17:44782198-44782198 C>T	1.0	3713	MELANOMA	-	-	ID=COSM706058;OCCURENCE=1(lung)	-	NSF	ENST00000575068,p.S478F|uc002iku.3,p.S483F|uc010wkf.2,p.S389F|ENST00000225282,p.S389F|uc010wke.2,p.S389F|NM_006178,p.S483F|ENST00000398238,p.S483F|uc010wkg.2,p.S478F	retained_intron, protein_coding, nonsense_mediated_decay	uc010wkg.2	nonsynonymous SNV	exon12	c.C1433T	p.S478F	ESLQVTRGDFLASLENDIKPAFGTN	ESLQVTRGDFLAFLENDIKPAFGTN	6.0	10.0	-	-	3713_17:44782198-44782198 C>T_ESLQVTRGDFLAFLENDIKPAFGTN
21:47976954-47976954 C>T	1.0	3713	MELANOMA	-	-	-	-	DIP2A	uc011afz.1,p.L1197F|ENST00000417564,p.L1201F|uc002zjo.2,p.L1201F|ENST00000318711,p.L1202F|NM_001146116,p.L1197F|uc002zjr.3,p.L168F|NM_015151,p.L1201F|ENST00000400274,p.L1197F	retained_intron, protein_coding, processed_transcript	uc011afz.1	nonsynonymous SNV	exon30	c.C3589T	p.L1197F	RQIAICLDPYCGLGFALWCLCSVYS	RQIAICLDPYCGFGFALWCLCSVYS	9.0	5.0	unscreened	-	3713_21:47976954-47976954 C>T_RQIAICLDPYCGFGFALWCLCSVYS
4:2515420-2515420 C>T	1.0	3713	MELANOMA	-	-	-	-	RNF4	uc010icj.3,p.S96L|ENST00000511859,p.S96L|NM_001185010,p.S96L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010icj.3	nonsynonymous SNV	exon7	c.C287T	p.S96L	TDTQRSCRMDVSSFPQNAAMSSVAS	TDTQRSCRMDVSLFPQNAAMSSVAS	8.0	3.0	unscreened	-	3713_4:2515420-2515420 C>T_TDTQRSCRMDVSLFPQNAAMSSVAS
12:9085828-9085828 G>A	1.0	3713	MELANOMA	-	-	-	-	PHC1	ENST00000543824,p.G592E|ENST00000544916,p.G592E|ENST00000433083,p.G547E|uc001qve.3,p.G592E|NM_004426,p.G592E|uc001qvd.3,p.G592E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001qve.3	nonsynonymous SNV	exon9	c.G1775A	p.G592E	GALQECPPTLAPGMTLAPVQGTAHV	GALQECPPTLAPEMTLAPVQGTAHV	8.0	7.0	unscreened	-	3713_12:9085828-9085828 G>A_GALQECPPTLAPEMTLAPVQGTAHV
1:89453955-89453955 G>A	1.0	3713	MELANOMA	-	-	-	-	CCBL2	ENST00000260508,p.L27F|NM_001008661,p.L27F|ENST00000370485,p.L27F|uc001dmp.2,p.L27F|ENST00000370486,p.L27F	protein_coding, processed_transcript	uc001dmp.2	nonsynonymous SNV	exon2	c.C79T	p.L27F	AKFLKTISSSKILGFSTSAKMSLKF	AKFLKTISSSKIFGFSTSAKMSLKF	7.0	3.0	unscreened	-	3713_1:89453955-89453955 G>A_AKFLKTISSSKIFGFSTSAKMSLKF
10:51769587-51769587 C>T	1.0	3713	MELANOMA	-	-	ID=COSM918778;OCCURENCE=1(endometrium)	-	AGAP6	ENST00000374056,p.R545C|uc001jix.4,p.R568C|ENST00000412531,p.R568C|NM_001077665,p.R568C	protein_coding	uc001jix.4	nonsynonymous SNV	exon8	c.C1702T	p.R568C	EKSTREEKERWIRSKYEEKLFLAPL	EKSTREEKERWICSKYEEKLFLAPL	6.0	7.0	unscreened	-	3713_10:51769587-51769587 C>T_EKSTREEKERWICSKYEEKLFLAPL
1:89237245-89237245 C>T	1.0	3713	MELANOMA	-	-	-	-	PKN2	ENST00000316005,p.S255L|ENST00000370513,p.S255L|ENST00000370505,p.S98L|NM_006256,p.S255L|uc001dmn.3,p.S255L|uc010osq.2,p.S98L|ENST00000370521,p.S255L|uc009wcv.3,p.S255L|uc010osp.2,p.S255L	protein_coding, processed_transcript	uc010osq.2	nonsynonymous SNV	exon4	c.C293T	p.S98L	LGSGKVTDRKALSEAQARFNESSQK	LGSGKVTDRKALLEAQARFNESSQK	9.0	9.0	-	-	3713_1:89237245-89237245 C>T_LGSGKVTDRKALLEAQARFNESSQK
17:64785081-64785081 C>T	1.0	3713	MELANOMA	-	-	-	-	PRKCA	ENST00000413366,p.P613L|NM_002737,p.P613L|uc002jfp.1,p.P613L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jfp.1	nonsynonymous SNV	exon16	c.C1838T	p.P613L	DWEKLENREIQPPFKPKVCGKGAEN	DWEKLENREIQPLFKPKVCGKGAEN	6.0	10.0	-	-	3713_17:64785081-64785081 C>T_DWEKLENREIQPLFKPKVCGKGAEN
2:207621972-207621972 C>T	1.0	3713	MELANOMA	-	-	-	-	MDH1B	ENST00000374412,p.E87K|NM_001282940,p.E87K|ENST00000432911,p.E87K|ENST00000454776,p.E87K|ENST00000436472,p.E87K|ENST00000392214,p.E87K|uc002vbs.3,p.E87K|NM_001039845,p.E87K|uc010fui.3,p.E87K	retained_intron, protein_coding, nonsense_mediated_decay	uc010fui.3	nonsynonymous SNV	exon3	c.G259A	p.E87K	KGLLLGGYNEFLEHAQLYYDVTSSM	KGLLLGGYNEFLKHAQLYYDVTSSM	3.0	8.0	unscreened	-	3713_2:207621972-207621972 C>T_KGLLLGGYNEFLKHAQLYYDVTSSM
1:14106899-14106899 C>T	1.0	3713	MELANOMA	-	-	-	2	PRDM2	uc021ogk.1,p.S633L|ENST00000311066,p.S870L|uc001avh.3,p.S870L|NM_015866,p.S870L|NM_012231,p.S870L|ENST00000413440,p.S669L|ENST00000235372,p.S870L|uc001avk.3,p.S669L|ENST00000343137,p.S669L|uc001avi.3,p.S870L|NM_001007257,p.S669L	protein_coding, processed_transcript, nonsense_mediated_decay, ambiguous_orf	uc021ogk.1	nonsynonymous SNV	exon4	c.C1898T	p.S633L	SDSEGKEFKESHSVQPTCSAVKKRK	SDSEGKEFKESHLVQPTCSAVKKRK	8.0	7.0	-	-	3713_1:14106899-14106899 C>T_SDSEGKEFKESHLVQPTCSAVKKRK
4:48230525-48230525 G>A	1.0	3713	MELANOMA	-	-	-	2	TEC	ENST00000381501,p.S36F|ENST00000505452,p.S36F|uc003gxz.3,p.S36F|NM_003215,p.S36F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gxz.3	nonsynonymous SNV	exon2	c.C107T	p.S36F	LNYKERLFVLTKSMLTYYEGRAEKK	LNYKERLFVLTKFMLTYYEGRAEKK	3.0	4.0	unscreened	-	3713_4:48230525-48230525 G>A_LNYKERLFVLTKFMLTYYEGRAEKK
4:103459054-103459054 C>T	1.0	3713	MELANOMA	-	-	-	-	NFKB1	NM_003998,p.H67Y|uc011cep.2,p.H67Y|ENST00000505458,p.H66Y|uc011ceq.2,p.H66Y|ENST00000226574,p.H67Y|ENST00000507079,p.H75Y|ENST00000394820,p.H66Y|NM_001165412,p.H66Y|ENST00000509165,p.H67Y	retained_intron, protein_coding, processed_transcript	uc011ceq.2	nonsynonymous SNV	exon5	c.C196T	p.H66Y	GFRFRYVCEGPSHGGLPGASSEKNK	GFRFRYVCEGPSYGGLPGASSEKNK	7.0	9.0	-	-	3713_4:103459054-103459054 C>T_GFRFRYVCEGPSYGGLPGASSEKNK
17:5462473-5462473 C>T	1.0	3713	MELANOMA	-	-	-	-	NLRP1	NM_014922,p.A515T|ENST00000572272,p.A515T|NM_033007,p.A515T|ENST00000571451,p.A515T|ENST00000544378,p.A515T|uc002gcl.3,p.A515T|ENST00000577119,p.A515T|uc010clh.3,p.A515T|NM_033004,p.A515T|NM_001033053,p.A515T|uc002gch.4,p.A515T|ENST00000262467,p.A515T|uc002gcg.1,p.A515T|ENST00000354411,p.A515T|NM_033006,p.A515T|ENST00000345221,p.A515T|ENST00000269280,p.A515T|uc002gci.3,p.A515T|uc002gck.3,p.A515T|uc002gcj.3,p.A515T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010clh.3	nonsynonymous SNV	exon5	c.G1543A	p.A515T	AFRLVKSNKELWALCLVPWVSWLAC	AFRLVKSNKELWTLCLVPWVSWLAC	7.0	10.0	-	-	3713_17:5462473-5462473 C>T_AFRLVKSNKELWTLCLVPWVSWLAC
6:90440633-90440633 G>A	1.0	3713	MELANOMA	-	-	-	-	MDN1	uc003pnn.1,p.S1651F|ENST00000369393,p.S1651F|ENST00000428876,p.S1651F|NM_014611,p.S1651F	protein_coding, processed_transcript, nonsense_mediated_decay	uc003pnn.1	nonsynonymous SNV	exon35	c.C4952T	p.S1651F	LVYIDGIGSGVTSSGFGTALLARKE	LVYIDGIGSGVTFSGFGTALLARKE	6.0	9.0	-	-	3713_6:90440633-90440633 G>A_LVYIDGIGSGVTFSGFGTALLARKE
11:58602305-58602305 C>T	1.0	3713	MELANOMA	-	-	-	-	GLYATL2	ENST00000287275,p.G161E|uc009ymq.3,p.G161E|uc001nnd.4,p.G161E|NM_145016,p.G161E|ENST00000532258,p.G161E	protein_coding, processed_transcript	uc009ymq.3	nonsynonymous SNV	exon7	c.G482A	p.G161E	MELFEVDDDNKEGNFSNMFLDASHA	MELFEVDDDNKEENFSNMFLDASHA	1.0	3.0	unscreened	-	3713_11:58602305-58602305 C>T_MELFEVDDDNKEENFSNMFLDASHA
16:1825375-1825375 C>T	1.0	3713	MELANOMA	-	-	-	-	EME2	uc002cmq.1,p.A254V|ENST00000307394,p.A254V	retained_intron, protein_coding, nonsense_mediated_decay	uc002cmq.1	nonsynonymous SNV	exon5	c.C761T	p.A254V	GTQQPESPKVAGAEVAVSWPEVEEV	GTQQPESPKVAGVEVAVSWPEVEEV	5.0	7.0	unscreened	-	3713_16:1825375-1825375 C>T_GTQQPESPKVAGVEVAVSWPEVEEV
12:54910690-54910690 C>T	0.0	3713	MELANOMA	-	-	-	-	NCKAP1L	NM_005337,p.H337Y|ENST00000548221,p.H337Y|ENST00000545638,p.H287Y|uc001sgc.4,p.H337Y|ENST00000293373,p.H337Y|uc010soy.2,p.H287Y|NM_001184976,p.H287Y	retained_intron, protein_coding, nonsense_mediated_decay	uc010soy.2	nonsynonymous SNV	exon11	c.C859T	p.H287Y	SKEHVIANSGQFHCQRRQFLRMAVK	SKEHVIANSGQFYCQRRQFLRMAVK	6.0	5.0	unscreened	-	3713_12:54910690-54910690 C>T_SKEHVIANSGQFYCQRRQFLRMAVK
18:12987030-12987030 C>T	1.0	3713	MELANOMA	-	-	ID=COSM1710998;OCCURENCE=1(skin)	-	SEH1L	uc002krq.3,p.P414S|ENST00000399892,p.P414S|NM_001013437,p.P414S	retained_intron, protein_coding, processed_transcript	uc002krq.3	nonsynonymous SNV	exon9	c.C1240T	p.P414S	HPRRRYLSRPLNPLPENEGI	HPRRRYLSRPLNSLPENEGI	8.0	2.0	unscreened	-	3713_18:12987030-12987030 C>T_HPRRRYLSRPLNSLPENEGI
2:30748536-30748536 C>T	1.0	3713	MELANOMA	-	-	-	-	LCLAT1	uc002rnk.1,p.P65L|ENST00000488144,p.P27L|ENST00000359433,p.P65L|uc002rnj.3,p.P65L|ENST00000466477,p.P27L|NM_001002257,p.P27L|ENST00000497423,p.P65L|ENST00000476038,p.P27L|ENST00000465538,p.P27L|ENST00000309052,p.P65L|uc010ymq.2,p.P27L|uc002rnl.3,p.P27L|ENST00000379509,p.P27L|NM_182551,p.P65L|ENST00000540623,p.P27L|ENST00000319406,p.P65L|ENST00000476535,p.P27L|ENST00000465200,p.P27L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ymq.2	nonsynonymous SNV	exon4	c.C80T	p.P27L	WGSFFGSIFMLSPFLPLMFVNPSWY	WGSFFGSIFMLSLFLPLMFVNPSWY	4.0	4.0	unscreened	-	3713_2:30748536-30748536 C>T_WGSFFGSIFMLSLFLPLMFVNPSWY
5:168138023-168138023 G>A	1.0	3713	MELANOMA	-	-	-	-	SLIT3	ENST00000332966,p.R866W|NM_003062,p.R866W|ENST00000519560,p.R866W|ENST00000404867,p.R866W|NM_001271946,p.R866W|uc003mab.4,p.R866W|uc010jjg.4,p.R866W	retained_intron, protein_coding, processed_transcript	uc010jjg.4	nonsynonymous SNV	exon25	c.C2596T	p.R866W	LGTNPLHCDCSLRWLSEWVKAGYKE	LGTNPLHCDCSLWWLSEWVKAGYKE	1.0	1.0	unscreened	-	3713_5:168138023-168138023 G>A_LGTNPLHCDCSLWWLSEWVKAGYKE
5:34008009-34008009 G>A	1.0	3713	MELANOMA	-	-	-	-	AMACR	ENST00000441713,p.S39F|uc003jil.2,p.S39F|ENST00000382072,p.S39F|ENST00000335606,p.S39F|uc003jig.3,p.S39F|uc003jij.3,p.S39F|uc003jik.2,p.S39F|ENST00000506639,p.S39F|uc003jih.3,p.S39F|ENST00000382085,p.S39F|NM_203382,p.S39F|ENST00000502637,p.S39F|NM_014324,p.S39F|NM_001167595,p.S39F	protein_coding, processed_transcript, nonsense_mediated_decay	uc003jil.2	nonsynonymous SNV	exon1	c.C116T	p.S39F	FGARVVRVDRPGSRYDVSRLGRGKR	FGARVVRVDRPGFRYDVSRLGRGKR	7.0	2.0	unscreened	-	3713_5:34008009-34008009 G>A_FGARVVRVDRPGFRYDVSRLGRGKR
9:131860571-131860571 G>A	1.0	3713	MELANOMA	-	-	-	-	CRAT	NM_001257363,p.P408S|uc004bxk.4,p.P408S|uc004bxh.3,p.P429S|ENST00000318080,p.P429S|NM_000755,p.P429S	protein_coding, processed_transcript, nonsense_mediated_decay	uc004bxk.4	nonsynonymous SNV	exon11	c.C1222T	p.P408S	FGKDFPKSEKLSPDAFIQMALQLAY	FGKDFPKSEKLSSDAFIQMALQLAY	5.0	9.0	-	-	3713_9:131860571-131860571 G>A_FGKDFPKSEKLSSDAFIQMALQLAY
X:2407314-2407314 G>A	1.0	3713	MELANOMA	-	-	-	-	ZBED1	uc004cqh.2,p.P483S|uc004cqg.2,p.P483S|uc022brw.1,p.P483S|ENST00000381222,p.P483S|ENST00000381223,p.P483S|ENST00000381218,p.P483S|uc022brx.1,p.P483S|NM_001171136,p.P483S|NM_001171135,p.P483S|NM_004729,p.P483S	protein_coding	uc022brx.1	nonsynonymous SNV	exon1	c.C1447T	p.P483S	VATFLDPRYKRLPFLSAFERQQVEN	VATFLDPRYKRLSFLSAFERQQVEN	8.0	7.0	unscreened	-	3713_X:2407314-2407314 G>A_VATFLDPRYKRLSFLSAFERQQVEN
2:183860526-183860526 G>A	1.0	3713	MELANOMA	-	-	-	-	NCKAP1	ENST00000361354,p.P215L|ENST00000360982,p.P221L|NM_205842,p.P221L|NM_013436,p.P215L|uc002upb.4,p.P221L|uc002upc.4,p.P215L	retained_intron, protein_coding, processed_transcript	uc002upc.4	nonsynonymous SNV	exon7	c.C644T	p.P215L	LSDALISLQMVYPRRNLSADQWRNA	LSDALISLQMVYLRRNLSADQWRNA	8.0	4.0	unscreened	-	3713_2:183860526-183860526 G>A_LSDALISLQMVYLRRNLSADQWRNA
16:1825375-1825375 C>T	1.0	3713	MELANOMA	-	-	-	-	EME2	ENST00000568449,p.A210V|NM_001257370,p.A210V|uc010brw.1,p.A210V	retained_intron, protein_coding, nonsense_mediated_decay	uc010brw.1	nonsynonymous SNV	exon5	c.C629T	p.A210V	GTQQPESPKVAGAEVAVSWPEVEEA	GTQQPESPKVAGVEVAVSWPEVEEA	5.0	7.0	unscreened	-	3713_16:1825375-1825375 C>T_GTQQPESPKVAGVEVAVSWPEVEEA
9:95022466-95022466 G>A	1.0	3713	MELANOMA	-	-	-	-	IARS	uc004ars.2,p.S458F|NM_002161,p.S613F|NM_013417,p.S613F|uc004aru.4,p.S613F|uc004art.2,p.S613F|ENST00000375643,p.S613F|uc010mqr.3,p.S503F|ENST00000447699,p.S503F|ENST00000443024,p.S613F	protein_coding, processed_transcript	uc010mqr.3	nonsynonymous SNV	exon17	c.C1508T	p.S503F	MSKRKKNYPDPVSIIQKYGADALRL	MSKRKKNYPDPVFIIQKYGADALRL	9.0	3.0	-	-	3713_9:95022466-95022466 G>A_MSKRKKNYPDPVFIIQKYGADALRL
1:155450923-155450923 G>A	1.0	3713	MELANOMA	-	-	-	-	ASH1L	uc001fkt.3,p.P580S|uc009wqq.3,p.P580S|uc009wqr.1,p.P580S|ENST00000368346,p.P580S|NM_018489,p.P580S|ENST00000392403,p.P580S	retained_intron, protein_coding, nonsense_mediated_decay	uc009wqr.1	nonsynonymous SNV	exon4	c.C1738T	p.P580S	TRSPPETSSQLAPNPLLLSSTTELI	TRSPPETSSQLASNPLLLSSTTELI	6.0	9.0	unscreened	-	3713_1:155450923-155450923 G>A_TRSPPETSSQLASNPLLLSSTTELI
1:160718179-160718179 C>T	0.0	3713	MELANOMA	-	-	-	-	SLAMF7	ENST00000359331,p.P84L|uc010pjo.2,p.P84L|ENST00000441662,p.P84L|uc001fwq.3,p.P84L|ENST00000368043,p.P84L|NM_021181,p.P84L|NM_001282589,p.P84L|ENST00000444090,p.P84L|NM_001282592,p.P84L|uc001fwr.3,p.P84L|uc010pjq.2,p.P84L|NM_001282588,p.P84L	protein_coding, processed_transcript	uc010pjq.2	nonsynonymous SNV	exon2	c.C251T	p.P84L	VTQNRNRERVDFPDGGYSLKLSKLK	VTQNRNRERVDFLDGGYSLKLSKLK	9.0	6.0	unscreened	-	3713_1:160718179-160718179 C>T_VTQNRNRERVDFLDGGYSLKLSKLK
12:6975191-6975191 C>T	1.0	3713	MELANOMA	-	-	-	-	USP5	ENST00000229268,p.P843S|uc001qri.4,p.P843S|ENST00000389231,p.P820S|NM_001098536,p.P843S|uc001qrh.4,p.P820S|NM_003481,p.P820S	retained_intron, protein_coding, processed_transcript	uc001qri.4	nonsynonymous SNV	exon20	c.C2527T	p.P843S	IYNDQKVCASEKPPKDLGYIYFYQR	IYNDQKVCASEKSPKDLGYIYFYQR	7.0	6.0	-	-	3713_12:6975191-6975191 C>T_IYNDQKVCASEKSPKDLGYIYFYQR
9:140611572-140611572 C>T	1.0	3713	MELANOMA	-	-	-	-	EHMT1	uc004coa.3,p.P194S|ENST00000334856,p.P163S|uc004cob.1,p.P163S|ENST00000462484,p.P194S|NM_024757,p.P194S|NM_001145527,p.P194S|ENST00000460843,p.P194S|uc011mfc.2,p.P194S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011mfc.2	nonsynonymous SNV	exon3	c.C580T	p.P194S	GSADTEDRKLPAPGADVKVHRARKT	GSADTEDRKLPASGADVKVHRARKT	8.0	4.0	-	-	3713_9:140611572-140611572 C>T_GSADTEDRKLPASGADVKVHRARKT
16:4016326-4016326 G>A	1.0	3713	MELANOMA	-	-	-	-	ADCY9	NM_001116,p.P1171L|ENST00000294016,p.P1171L|uc002cvx.3,p.P1171L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002cvx.3	nonsynonymous SNV	exon11	c.C3512T	p.P1171L	FNFKLRVGFNHGPLTAGVIGTTKLL	FNFKLRVGFNHGLLTAGVIGTTKLL	5.0	2.0	-	-	3713_16:4016326-4016326 G>A_FNFKLRVGFNHGLLTAGVIGTTKLL
20:62195308-62195308 T>C	1.0	3713	MELANOMA	-	-	-	-	HELZ2	ENST00000467148,p.T1623A|NM_033405,p.T1054A|ENST00000427522,p.T1054A|NM_001037335,p.T1623A|uc002yfm.2,p.T1623A|uc002yfl.1,p.T1054A	retained_intron, protein_coding, processed_transcript	uc002yfm.2	nonsynonymous SNV	exon9	c.A4867G	p.T1623A	RTQDYEQMVDLVTTDDMHPFLAPAG	RTQDYEQMVDLVATDDMHPFLAPAG	8.0	7.0	-	-	3713_20:62195308-62195308 T>C_RTQDYEQMVDLVATDDMHPFLAPAG
2:30748535-30748535 C>T	1.0	3713	MELANOMA	-	-	-	-	LCLAT1	ENST00000465200,p.P27S|uc002rnj.3,p.P65S|ENST00000319406,p.P65S|NM_182551,p.P65S|ENST00000488144,p.P27S|uc010ymq.2,p.P27S|ENST00000476038,p.P27S|uc002rnk.1,p.P65S|ENST00000497423,p.P65S|ENST00000466477,p.P27S|ENST00000359433,p.P65S|ENST00000465538,p.P27S|ENST00000379509,p.P27S|NM_001002257,p.P27S|ENST00000476535,p.P27S|uc002rnl.3,p.P27S|ENST00000540623,p.P27S|ENST00000309052,p.P65S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ymq.2	nonsynonymous SNV	exon4	c.C79T	p.P27S	WGSFFGSIFMLSPFLPLMFVNPSWY	WGSFFGSIFMLSSFLPLMFVNPSWY	4.0	4.0	unscreened	-	3713_2:30748535-30748535 C>T_WGSFFGSIFMLSSFLPLMFVNPSWY
11:107686558-107686558 A>T	1.0	3713	MELANOMA	-	-	-	-	SLC35F2	NM_017515,p.L82M|uc001pjq.3,p.L82M|ENST00000525071,p.L82M|ENST00000375682,p.L35M|ENST00000525815,p.L82M|ENST00000532513,p.L82M|uc001pjs.3,p.L82M|ENST00000429869,p.L82M	protein_coding, nonsense_mediated_decay	uc001pjs.3	nonsynonymous SNV	exon2	c.T244A	p.L82M	NTPMLQSFINYCLLFLIYTVMLAFR	NTPMLQSFINYCMLFLIYTVMLAFR	3.0	3.0	unscreened	-	3713_11:107686558-107686558 A>T_NTPMLQSFINYCMLFLIYTVMLAFR
3:93803294-93803294 G>A	1.0	3713	MELANOMA	-	-	-	-	NSUN3	NM_022072,p.G156S|uc003drl.1,p.G156S|ENST00000314622,p.G156S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003drl.1	nonsynonymous SNV	exon3	c.G466A	p.G156S	GKSIALLQCACPGYLHCNEYDSLRL	GKSIALLQCACPSYLHCNEYDSLRL	5.0	3.0	-	-	3713_3:93803294-93803294 G>A_GKSIALLQCACPSYLHCNEYDSLRL
2:73681129-73681129 C>T	1.0	3713	MELANOMA	-	-	-	-	ALMS1	ENST00000377715,p.S2491L|ENST00000423048,p.S769L|uc002sjh.1,p.S1879L|ENST00000409009,p.S2449L|uc002sjf.1,p.S2449L|ENST00000264448,p.S2491L|uc002sjg.3,p.S1879L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002sjh.1	nonsynonymous SNV	exon1	c.C5636T	p.S1879L	AAHVKNLLQCESSLNHAKEILRNAE	AAHVKNLLQCESLLNHAKEILRNAE	6.0	7.0	unscreened	-	3713_2:73681129-73681129 C>T_AAHVKNLLQCESLLNHAKEILRNAE
1:213414834-213414834 C>T	1.0	3713	MELANOMA	-	-	ID=COSM1689817;OCCURENCE=1(skin)	-	RPS6KC1	ENST00000543470,p.S460L|uc010ptv.2,p.S207L|uc010ptr.2,p.S672L|NM_012424,p.S672L|NM_001136138,p.S660L|ENST00000366959,p.S660L|ENST00000366960,p.S672L|uc010ptu.2,p.S491L|NM_001287221,p.S491L|NM_001287220,p.S207L|uc010pts.2,p.S460L|NM_001287219,p.S460L|NM_001287218,p.S460L|uc001hkd.3,p.S660L|ENST00000543354,p.S375L|uc010ptt.2,p.S460L|uc001hke.3,p.S491L	protein_coding, processed_transcript	uc010ptv.2	nonsynonymous SNV	exon9	c.C620T	p.S207L	ISRGSDDSVPVISFKDAAFDDVSGT	ISRGSDDSVPVILFKDAAFDDVSGT	6.0	4.0	-	-	3713_1:213414834-213414834 C>T_ISRGSDDSVPVILFKDAAFDDVSGT
11:95560969-95560969 C>T	1.0	3713	MELANOMA	-	-	-	-	CEP57	ENST00000537093,p.A61V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000537093	nonsynonymous SNV	exon3	c.C182T	p.A61V	QAKAAESTSPSHAVVANVQLVLHLM	QAKAAESTSPSHVVVANVQLVLHLM	8.0	3.0	unscreened	-	3713_11:95560969-95560969 C>T_QAKAAESTSPSHVVVANVQLVLHLM
9:96291930-96291930 T>A	1.0	3713	MELANOMA	-	-	-	-	FAM120A	uc004atv.3,p.V601D|NM_001286724,p.V601D|ENST00000375389,p.V601D	protein_coding, processed_transcript	uc004atv.3	nonsynonymous SNV	exon9	c.T1802A	p.V601D	CYLMSGHSYGCFVLLSFFEPFFCLT	CYLMSGHSYGCFDLLSFFEPFFCLT	9.0	2.0	-	-	3713_9:96291930-96291930 T>A_CYLMSGHSYGCFDLLSFFEPFFCLT
7:7636032-7636032 C>T	1.0	3713	MELANOMA	-	-	-	-	MIOS	uc003srg.3,p.P316S|ENST00000340080,p.P781S|NM_019005,p.P781S|uc010ktq.3,p.P176S|uc003srf.3,p.P781S|ENST00000405785,p.P781S	retained_intron, protein_coding, processed_transcript	uc010ktq.3	nonsynonymous SNV	exon5	c.C526T	p.P176S	KSKVTSCPGCRKPLPRCALCLINMG	KSKVTSCPGCRKSLPRCALCLINMG	7.0	8.0	-	-	3713_7:7636032-7636032 C>T_KSKVTSCPGCRKSLPRCALCLINMG
14:105350672-105350672 C>T	1.0	3713	MELANOMA	-	-	-	-	CEP170B	ENST00000556508,p.P449L|NM_001112726,p.P519L|ENST00000418279,p.P449L|ENST00000414716,p.P519L|uc001yps.3,p.P449L|NM_015005,p.P449L|uc010axb.4,p.P519L|ENST00000453495,p.P520L	retained_intron, protein_coding	uc010axb.4	nonsynonymous SNV	exon9	c.C1556T	p.P519L	CLRESSPAARPSPEKVPPVLPAPLT	CLRESSPAARPSLEKVPPVLPAPLT	7.0	8.0	unscreened	-	3713_14:105350672-105350672 C>T_CLRESSPAARPSLEKVPPVLPAPLT
9:91617104-91617104 C>T	1.0	3713	MELANOMA	-	-	-	-	S1PR3	uc022bjm.1,p.P330L|ENST00000358157,p.P330L|ENST00000375846,p.P330L|NM_005226,p.P330L|uc004aqe.4,p.P330L	protein_coding	uc022bjm.1	nonsynonymous SNV	exon1	c.C989T	p.P330L	VRGRGARASPIQPALDPSRSKSSSS	VRGRGARASPIQLALDPSRSKSSSS	5.0	4.0	unscreened	-	3713_9:91617104-91617104 C>T_VRGRGARASPIQLALDPSRSKSSSS
17:39680490-39680490 G>A	1.0	3713	MELANOMA	-	-	-	-	KRT19	uc010wfs.2,p.H448Y|ENST00000361566,p.H285Y|ENST00000593096,p.H109Y|NM_002276,p.H285Y|uc002hxd.4,p.H285Y	retained_intron, protein_coding	uc010wfs.2	nonsynonymous SNV	exon8	c.C1342T	p.H448Y	SRTEELNREVAGHTEQLQMSRSEVT	SRTEELNREVAGYTEQLQMSRSEVT	4.0	10.0	-	-	3713_17:39680490-39680490 G>A_SRTEELNREVAGYTEQLQMSRSEVT
12:49398903-49398903 C>T	1.0	3713	MELANOMA	-	-	-	-	PRKAG1	ENST00000551696,p.E68K|uc010sme.2,p.E119K|ENST00000395170,p.E35K|ENST00000548950,p.E35K|ENST00000551770,p.E94K|NM_001206710,p.E87K|ENST00000548065,p.E119K|uc010smd.2,p.E87K|ENST00000552212,p.E87K|ENST00000316299,p.E128K|NM_001206709,p.E128K|uc001rsz.3,p.E128K|uc001rsy.3,p.E119K|NM_002733,p.E119K|ENST00000552463,p.E87K|ENST00000547306,p.E68K|ENST00000551121,p.E87K	retained_intron, protein_coding, nonsense_mediated_decay	uc010sme.2	nonsynonymous SNV	exon6	c.G355A	p.E119K	YELEEHKIETWREVYLQDSFKPLVC	YELEEHKIETWRKVYLQDSFKPLVC	10.0	8.0	-	-	3713_12:49398903-49398903 C>T_YELEEHKIETWRKVYLQDSFKPLVC
2:113940694-113940694 G>A	1.0	3713	MELANOMA	-	-	-	-	PSD4	uc002tje.3,p.E220K|ENST00000441564,p.E221K|uc002tjc.3,p.E221K|NM_012455,p.E221K|ENST00000245796,p.E221K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tje.3	nonsynonymous SNV	exon2	c.G658A	p.E220K	EDSGEDSSEPEGEGQAWLREGTPDS	EDSGEDSSEPEGKGQAWLREGTPDS	6.0	10.0	unscreened	-	3713_2:113940694-113940694 G>A_EDSGEDSSEPEGKGQAWLREGTPDS
17:45916961-45916961 G>A	1.0	3713	MELANOMA	-	-	-	-	SCRN2	ENST00000579856,p.H75Y|ENST00000583090,p.H75Y	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000583090	nonsynonymous SNV	exon2	c.C223T	p.H75Y	TEQLCPGGLACDHRVTGALWAGGQL	TEQLCPGGLACDYRVTGALWAGGQL	8.0	2.0	unscreened	-	3713_17:45916961-45916961 G>A_TEQLCPGGLACDYRVTGALWAGGQL
12:58191722-58191722 A>T	1.0	3713	MELANOMA	-	-	-	-	AVIL	uc001sqj.2,p.F801L|NM_006576,p.F801L|ENST00000537081,p.F794L|ENST00000257861,p.F801L|uc009zqe.2,p.F794L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zqe.2	nonsynonymous SNV	exon20	c.T2382A	p.F794L	DFVSVFGITRGQFAALPGWKQLQMK	DFVSVFGITRGQLAALPGWKQLQMK	8.0	9.0	unscreened	-	3713_12:58191722-58191722 A>T_DFVSVFGITRGQLAALPGWKQLQMK
6:32549448-32549448 C>T	1.0	3713	MELANOMA	-	-	-	-	HLA-DRB1	NM_002124,p.G180R|uc003obp.4,p.G180R|ENST00000360004,p.G180R	protein_coding	uc003obp.4	nonsynonymous SNV	exon3	c.G538A	p.G180R	KAGMVSTGLIQNGDWTFQTLVMLET	KAGMVSTGLIQNRDWTFQTLVMLET	10.0	9.0	-	-	3713_6:32549448-32549448 C>T_KAGMVSTGLIQNRDWTFQTLVMLET
6:121625733-121625733 G>A	1.0	3713	MELANOMA	-	-	-	-	TBC1D32	uc003pyo.1,p.H270Y|ENST00000398212,p.H270Y|ENST00000275159,p.H270Y|NM_152730,p.H270Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pyo.1	nonsynonymous SNV	exon7	c.C808T	p.H270Y	KYLESYFLSRENHIPTLSAGVDITN	KYLESYFLSRENYIPTLSAGVDITN	2.0	9.0	unscreened	-	3713_6:121625733-121625733 G>A_KYLESYFLSRENYIPTLSAGVDITN
22:16449560-16449560 G>A	0.0	3713	MELANOMA	-	-	-	-	OR11H1	ENST00000252835,p.S82F|uc011agd.2,p.S82F|NM_001005239,p.S82F	protein_coding	uc011agd.2	nonsynonymous SNV	exon1	c.C245T	p.S82F	LHTPMYMFLGNFSFLEIWYVSSTVP	LHTPMYMFLGNFFFLEIWYVSSTVP	1.0	1.0	unscreened	-	3713_22:16449560-16449560 G>A_LHTPMYMFLGNFFFLEIWYVSSTVP
13:58298979-58298979 C>T	1.0	3713	MELANOMA	-	-	-	-	PCDH17	NM_001040429,p.L1011F|uc010aec.1,p.L1010F|uc001vhr.1,p.L100F|uc001vhq.1,p.L1011F|ENST00000377918,p.L1011F	protein_coding, nonsense_mediated_decay	uc010aec.1	nonsynonymous SNV	exon4	c.C3028T	p.L1010F	CTFGKDKREHTILIANVKPYLKAKR	CTFGKDKREHTIFIANVKPYLKAKR	3.0	4.0	unscreened	-	3713_13:58298979-58298979 C>T_CTFGKDKREHTIFIANVKPYLKAKR
6:17799576-17799576 G>A	1.0	3713	MELANOMA	-	-	-	-	KIF13A	ENST00000378843,p.A904V|ENST00000378826,p.A904V|NM_001105568,p.A904V|ENST00000378816,p.A904V|ENST00000378814,p.A904V|ENST00000259711,p.A904V|NM_001105566,p.A904V|NM_001105567,p.A904V|uc003nci.4,p.A904V|uc003nch.4,p.A904V|uc003ncg.4,p.A904V|uc003ncf.3,p.A904V|NM_022113,p.A904V	retained_intron, protein_coding, processed_transcript	uc003nci.4	nonsynonymous SNV	exon22	c.C2711T	p.A904V	QYTFWDQCESTVAAPVVDPEVPSPQ	QYTFWDQCESTVVAPVVDPEVPSPQ	8.0	2.0	-	-	3713_6:17799576-17799576 G>A_QYTFWDQCESTVVAPVVDPEVPSPQ
7:38462064-38462064 G>A	1.0	3713	MELANOMA	-	-	-	-	AMPH	NM_001635,p.S410L|uc003tgt.3,p.S337L|ENST00000356264,p.S410L|uc003tgv.3,p.S410L|uc003tgw.1,p.S475L|uc003tgu.3,p.S410L|NM_139316,p.S410L|ENST00000325590,p.S410L|ENST00000428293,p.S410L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003tgw.1	nonsynonymous SNV	exon3	c.C1424T	p.S475L	GSFNGFTQPQDTSLFTMQTDQSMIC	GSFNGFTQPQDTLLFTMQTDQSMIC	7.0	3.0	unscreened	-	3713_7:38462064-38462064 G>A_GSFNGFTQPQDTLLFTMQTDQSMIC
16:1496687-1496687 G>A	1.0	3713	MELANOMA	-	-	-	-	CLCN7	ENST00000448525,p.A764V|NM_001287,p.A788V|uc002clw.3,p.A764V|uc002clv.3,p.A788V|uc002clu.3,p.A236V|ENST00000382745,p.A788V|NM_001114331,p.A764V	retained_intron, protein_coding, processed_transcript	uc002clw.3	nonsynonymous SNV	exon24	c.C2291T	p.A764V	NQVVGLVTRKDLARYRLGKRGLEEL	NQVVGLVTRKDLVRYRLGKRGLEEL	10.0	1.0	unscreened	-	3713_16:1496687-1496687 G>A_NQVVGLVTRKDLVRYRLGKRGLEEL
1:213445882-213445882 C>T	1.0	3713	MELANOMA	-	-	-	-	RPS6KC1	NM_001287221,p.P855S|ENST00000366960,p.P1036S|uc010ptr.2,p.P1036S|uc010ptv.2,p.P571S|uc001hkd.3,p.P1024S|uc010ptu.2,p.P855S|NM_001287218,p.P824S|NM_001136138,p.P1024S|uc001hke.3,p.P855S|ENST00000543470,p.P824S|NM_012424,p.P1036S|ENST00000366959,p.P1024S|NM_001287219,p.P824S|NM_001287220,p.P571S|uc010pts.2,p.P824S|uc010ptt.2,p.P824S	protein_coding, processed_transcript	uc010ptv.2	nonsynonymous SNV	exon13	c.C1711T	p.P571S	ARSLIQQLLQFNPLERLGAGVAGVE	ARSLIQQLLQFNSLERLGAGVAGVE	6.0	9.0	-	-	3713_1:213445882-213445882 C>T_ARSLIQQLLQFNSLERLGAGVAGVE
3:12940927-12940927 G>A	1.0	3713	MELANOMA	-	-	-	-	IQSEC1	uc003bxt.3,p.P952S|NM_014869,p.P952S|ENST00000273221,p.P952S	protein_coding, processed_transcript	uc003bxt.3	nonsynonymous SNV	exon14	c.C2854T	p.P952S	SAGSLESNVEFQPFEPLQPSVLCS	SAGSLESNVEFQSFEPLQPSVLCS	5.0	1.0	unscreened	-	3713_3:12940927-12940927 G>A_SAGSLESNVEFQSFEPLQPSVLCS
1:186057373-186057373 C>T	1.0	3713	MELANOMA	-	-	-	-	HMCN1	ENST00000367492,p.P3181L|uc001grq.1,p.P3181L|NM_031935,p.P3181L|ENST00000271588,p.P3181L	protein_coding, processed_transcript	uc001grq.1	nonsynonymous SNV	exon62	c.C9542T	p.P3181L	VTLTCDATGIPPPTIAWLKNHKRIE	VTLTCDATGIPPLTIAWLKNHKRIE	8.0	2.0	-	-	3713_1:186057373-186057373 C>T_VTLTCDATGIPPLTIAWLKNHKRIE
12:344366-344366 G>A	0.0	3713	MELANOMA	-	-	-	-	SLC6A13	uc010sdl.2,p.P149S|uc009zdj.2,p.P241S|NM_001190997,p.P149S|ENST00000445055,p.P149S|NM_016615,p.P241S|ENST00000343164,p.P241S|uc010sdm.1,p.P122S|uc001qic.2,p.P241S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sdm.1	nonsynonymous SNV	exon4	c.C364T	p.P122S	STGKVVYFTATFPYLMLVVLLIRGV	STGKVVYFTATFSYLMLVVLLIRGV	1.0	6.0	unscreened	-	3713_12:344366-344366 G>A_STGKVVYFTATFSYLMLVVLLIRGV
7:116339255-116339255 G>A	1.0	3713	MELANOMA	-	-	-	1	MET	ENST00000436117,p.M39I|uc011knb.1,p.M39I|ENST00000456159,p.M58I|uc011kng.1,p.M39I|uc010lkh.3,p.M39I|uc011knf.2,p.M39I|uc003vij.3,p.M39I|uc010lkg.3,p.M39I|NM_000245,p.M39I|uc011kne.2,p.M39I|uc011kni.2,p.M39I|uc011knh.1,p.M39I|uc011kmz.1,p.M39I|NM_001127500,p.M39I|uc022akk.1,p.M39I|uc011kna.1,p.M39I|uc011knd.2,p.M39I|uc003vii.1,p.M58I|ENST00000397752,p.M39I|ENST00000318493,p.M39I|uc011knc.1,p.M39I	protein_coding, processed_transcript	uc022akk.1	nonsynonymous SNV	exon2	c.G117A	p.M39I	KEALAKSEMNVNMKYQLPNFTAETP	KEALAKSEMNVNIKYQLPNFTAETP	2.0	6.0	-	-	3713_7:116339255-116339255 G>A_KEALAKSEMNVNIKYQLPNFTAETP
7:140285423-140285423 G>A	1.0	3713	MELANOMA	-	-	-	-	DENND2A	ENST00000461883,p.S404F|uc010lnj.3,p.S404F|uc003vvw.3,p.S404F|ENST00000537639,p.S404F|uc003vvx.3,p.S404F|ENST00000275884,p.S404F|ENST00000492720,p.S404F|uc010lnk.3,p.S404F|ENST00000475837,p.S27F|ENST00000496613,p.S404F|NM_015689,p.S404F	protein_coding, nonsense_mediated_decay	uc010lnk.3	nonsynonymous SNV	exon5	c.C1211T	p.S404F	CLGKKCVLNFPASPTSSIPDTLTKQ	CLGKKCVLNFPAFPTSSIPDTLTKQ	4.0	5.0	-	-	3713_7:140285423-140285423 G>A_CLGKKCVLNFPAFPTSSIPDTLTKQ
2:172935770-172935770 C>T	1.0	3713	MELANOMA	-	-	-	-	METAP1D	NM_199227,p.P226S|ENST00000315796,p.P226S|uc010zdw.2,p.P108S|uc002uhk.3,p.P226S	protein_coding, processed_transcript	uc010zdw.2	nonsynonymous SNV	exon6	c.C322T	p.P108S	RDEAIAACRAGAPFSVIGNTISHIT	RDEAIAACRAGASFSVIGNTISHIT	8.0	4.0	-	-	3713_2:172935770-172935770 C>T_RDEAIAACRAGASFSVIGNTISHIT
1:19952054-19952054 C>G	1.0	3713	MELANOMA	-	-	-	-	MINOS1	uc021ohu.1,p.P131A|NM_001204083,p.P131A	 processed_transcript,protein_coding	uc021ohu.1	nonsynonymous SNV	exon4	c.C391G	p.P131A	GTEAGSRPFPPLPGSSLSWHQS	GTEAGSRPFPPLAGSSLSWHQS	7.0	6.0	unscreened	-	3713_1:19952054-19952054 C>G_GTEAGSRPFPPLAGSSLSWHQS
22:50902971-50902971 G>A	1.0	3713	MELANOMA	-	-	-	-	SBF1	ENST00000390679,p.P543L|NM_002972,p.P543L|uc003bli.2,p.P544L|uc003blh.3,p.P543L|uc011arx.2,p.P207L|ENST00000380817,p.P543L|ENST00000348911,p.P544L	retained_intron, protein_coding, processed_transcript	uc011arx.2	nonsynonymous SNV	exon8	c.C620T	p.P207L	VKAERRTTVPSGPPMTAILERCSGL	VKAERRTTVPSGLPMTAILERCSGL	8.0	4.0	-	-	3713_22:50902971-50902971 G>A_VKAERRTTVPSGLPMTAILERCSGL
9:139390656-139390656 G>-	1.0	3713	MELANOMA	-	-	ID=COSM29454;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	1	NOTCH1	uc004chz.3,p.P2512fs|ENST00000277541,p.P2512fs|NM_017617,p.P2512fs	protein_coding, processed_transcript	uc004chz.3	frameshift deletion	exon34	c.7535delC	p.P2512fs	HQLQVPEHPFLTPSPESPDQWSSSS	HQLQVPEHPFLTRPLSPLTSGPARPRIPTSPTGPRASPALPPACSPRSPAFRRPSS	6.0	3.0	unscreened	-	3713_9:139390656-139390656 G>-_HQLQVPEHPFLTRPLSPLTSGPARPRIPTSPTGPRASPALPPACSPRSPAFRRPSS
5:134705805-134705805 G>A	1.0	3713	MELANOMA	-	-	-	-	H2AFY	NM_001040158,p.A67V|uc003las.1,p.A67V|uc003lam.1,p.A67V|NM_138610,p.A67V|ENST00000510038,p.A67V|uc003lat.1,p.A67V|uc003lan.1,p.A67V|NM_138609,p.A67V|ENST00000506671,p.A67V|ENST00000304332,p.A67V|ENST00000511689,p.A67V|ENST00000312469,p.A67V|uc003lao.1,p.A67V|NM_004893,p.A67V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003lat.1	nonsynonymous SNV	exon3	c.C200T	p.A67V	YLTAEILELAGNAARDNKKGRVTPR	YLTAEILELAGNVARDNKKGRVTPR	10.0	8.0	-	-	3713_5:134705805-134705805 G>A_YLTAEILELAGNVARDNKKGRVTPR
9:131823546-131823546 C>T	1.0	3713	MELANOMA	-	-	-	-	FAM73B	ENST00000406926,p.P311S|NM_032809,p.P311S|uc011mbn.1,p.P311S|ENST00000358369,p.P311S|uc004bxa.3,p.P311S|ENST00000445183,p.P311S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011mbn.1	nonsynonymous SNV	exon9	c.C931T	p.P311S	LFESLQTGDYPIPLSRPAAAYEEAL	LFESLQTGDYPISLSRPAAAYEEAL	5.0	2.0	unscreened	-	3713_9:131823546-131823546 C>T_LFESLQTGDYPISLSRPAAAYEEAL
12:7310285-7310285 G>A	1.0	3713	MELANOMA	-	-	-	-	CLSTN3	uc001qst.3,p.E318K	retained_intron, protein_coding, processed_transcript	uc001qst.3	nonsynonymous SNV	exon2	c.G952A	p.E318K	DDSALTIIVNPMEVRGLGKRGSVGS	DDSALTIIVNPMKVRGLGKRGSVGS	8.0	1.0	unscreened	-	3713_12:7310285-7310285 G>A_DDSALTIIVNPMKVRGLGKRGSVGS
12:52115352-52115352 C>T	1.0	3713	MELANOMA	-	-	-	-	SCN8A	uc010snl.3,p.S553L|uc001ryy.2,p.S418L|uc001ryx.1,p.S418L|uc001ryz.1,p.S418L|ENST00000550891,p.S553L|ENST00000354534,p.S553L|uc001ryw.4,p.S553L|NM_014191,p.S553L|ENST00000551216,p.S351L|ENST00000545061,p.S553L|ENST00000355133,p.S553L|NM_001177984,p.S553L	protein_coding, processed_transcript	uc010snl.3	nonsynonymous SNV	exon12	c.C1658T	p.S553L	SIMNQSLLSIPGSPFLSRHNSKSSI	SIMNQSLLSIPGLPFLSRHNSKSSI	1.0	10.0	unscreened	-	3713_12:52115352-52115352 C>T_SIMNQSLLSIPGLPFLSRHNSKSSI
2:242615583-242615583 G>A	1.0	3713	MELANOMA	-	-	-	-	DTYMK	NM_001165031,p.R176C|ENST00000305784,p.R200C|uc002wbz.2,p.R200C|NM_012145,p.R200C|uc010zpa.2,p.R176C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zpa.2	nonsynonymous SNV	exon5	c.C526T	p.R176C	HEDIRVLSEDAIRTATEKPLGELWK	HEDIRVLSEDAICTATEKPLGELWK	7.0	1.0	unscreened	-	3713_2:242615583-242615583 G>A_HEDIRVLSEDAICTATEKPLGELWK
21:35773126-35773126 C>T	1.0	3713	MELANOMA	-	-	-	-	C21orf140	ENST00000410005,p.G82E|NM_001282537,p.G82E	protein_coding	NM_001282537	nonsynonymous SNV	exon1	c.G245A	p.G82E	PTWCIVHAAGSQGWVPWKYRVFLRD	PTWCIVHAAGSQEWVPWKYRVFLRD	1.0	6.0	unscreened	-	3713_21:35773126-35773126 C>T_PTWCIVHAAGSQEWVPWKYRVFLRD
4:40829157-40829157 G>A	1.0	3713	MELANOMA	-	-	-	-	APBB2	NM_001166050,p.P574L|ENST00000508593,p.P575L|ENST00000504305,p.P26L|ENST00000514920,p.P26L|uc003gvl.3,p.P574L|uc021xnt.1,p.P26L|NM_001166053,p.P26L|NM_001166051,p.P26L|uc003gvk.3,p.P26L|uc010ifu.3,p.P146L|ENST00000513516,p.P26L|uc003gvn.3,p.P575L|ENST00000295974,p.P574L|ENST00000543538,p.P26L|ENST00000510670,p.P26L|NM_001166054,p.P26L|ENST00000512510,p.P88L|NM_001166052,p.P26L|NM_004307,p.P575L|ENST00000502841,p.P26L|ENST00000506352,p.P553L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xnt.1	nonsynonymous SNV	exon3	c.C77T	p.P26L	SLQERANVNLDVPLQVDFPTPKTEL	SLQERANVNLDVLLQVDFPTPKTEL	7.0	5.0	unscreened	-	3713_4:40829157-40829157 G>A_SLQERANVNLDVLLQVDFPTPKTEL
7:99757694-99757694 G>A	1.0	3713	MELANOMA	-	-	ID=COSM199409;OCCURENCE=1(large_intestine)	-	GAL3ST4	uc003utt.3,p.R440W|ENST00000426974,p.R378W|ENST00000413800,p.R440W|ENST00000360039,p.R440W|NM_024637,p.R440W|uc003utu.3,p.R440W|uc022aii.1,p.R378W	retained_intron, protein_coding, processed_transcript	uc022aii.1	nonsynonymous SNV	exon2	c.C1132T	p.R378W	QFGSAKVLGYILRSGLSPQDQEECE	QFGSAKVLGYILWSGLSPQDQEECE	8.0	8.0	unscreened	-	3713_7:99757694-99757694 G>A_QFGSAKVLGYILWSGLSPQDQEECE
8:16026284-16026284 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1455800,COSM1455799;OCCURENCE=1(large_intestine)	-	MSR1	uc003wwz.3,p.E105K|ENST00000262101,p.E105K|NM_138715,p.E105K|ENST00000350896,p.E105K|uc003wxa.3,p.E105K|uc003wxb.3,p.E105K|ENST00000355282,p.E105K|uc010lsu.3,p.E123K|ENST00000381998,p.E105K|NM_138716,p.E105K|ENST00000445506,p.E123K|NM_002445,p.E105K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lsu.3	nonsynonymous SNV	exon4	c.G367A	p.E123K	ITQSLTGKGNDSEEEMRFQEVFMEH	ITQSLTGKGNDSKEEMRFQEVFMEH	9.0	3.0	unscreened	-	3713_8:16026284-16026284 C>T_ITQSLTGKGNDSKEEMRFQEVFMEH
19:14199566-14199566 G>A	1.0	3713	MELANOMA	-	-	-	-	SAMD1	ENST00000269724,p.P53S|ENST00000533683,p.P353S	protein_coding, processed_transcript	ENST00000533683	nonsynonymous SNV	exon4	c.C1057T	p.P353S	GCPPGRKEKPSDPVEWTVMDVVEYF	GCPPGRKEKPSDSVEWTVMDVVEYF	7.0	4.0	-	-	3713_19:14199566-14199566 G>A_GCPPGRKEKPSDSVEWTVMDVVEYF
7:82475901-82475901 G>A	1.0	3713	MELANOMA	-	-	-	-	PCLO	uc003uhx.2,p.H4605Y|ENST00000333891,p.H4605Y|ENST00000423517,p.H4605Y|uc003uht.1,p.H56Y|uc003uhv.2,p.H4605Y|NM_014510,p.H4605Y|NM_033026,p.H4605Y|uc003uhu.1,p.H35Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon12	c.C13813T	p.H4605Y	LSDSENSQHLELHEPPKAVDKAKSP	LSDSENSQHLELYEPPKAVDKAKSP	2.0	6.0	unscreened	-	3713_7:82475901-82475901 G>A_LSDSENSQHLELYEPPKAVDKAKSP
21:45861603-45861603 C>T	1.0	3713	MELANOMA	-	-	-	-	TRPM2	uc011aff.1,p.S153F|ENST00000300481,p.S1418F|ENST00000397932,p.S1522F|ENST00000300482,p.S1472F|uc002zex.1,p.S1258F|NM_003307,p.S1472F|uc002zey.1,p.S951F|uc002zeu.1,p.S1472F|ENST00000397928,p.S1472F|uc010gpt.1,p.S1522F|uc002zet.1,p.S1472F|uc002zew.1,p.S1472F	protein_coding, processed_transcript	uc011aff.1	nonsynonymous SNV	exon7	c.C458T	p.S153F	LNSNLHACDSGASIRWQVVDRRIPL	LNSNLHACDSGAFIRWQVVDRRIPL	5.0	2.0	unscreened	-	3713_21:45861603-45861603 C>T_LNSNLHACDSGAFIRWQVVDRRIPL
1:227947151-227947151 C>T	1.0	3713	MELANOMA	-	-	-	-	SNAP47	ENST00000366760,p.S121F|ENST00000366759,p.S363F|uc001hra.2,p.S121F|uc001hrf.2,p.S363F|uc001hre.3,p.S121F|ENST00000315781,p.S363F|NM_053052,p.S363F|uc001hrd.3,p.S363F	protein_coding, processed_transcript	uc001hrf.2	nonsynonymous SNV	exon3	c.C1088T	p.S363F	EDALVLRSARTSSPAEKSCSVWHAA	EDALVLRSARTSFPAEKSCSVWHAA	7.0	5.0	-	-	3713_1:227947151-227947151 C>T_EDALVLRSARTSFPAEKSCSVWHAA
2:74708997-74708997 G>A	1.0	3713	MELANOMA	-	-	-	-	CCDC142	uc002slp.2,p.P323L|uc002slq.3,p.P323L|uc002slr.3,p.P323L|ENST00000393965,p.P323L|NM_032779,p.P323L|ENST00000290418,p.P323L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002slr.3	nonsynonymous SNV	exon1	c.C968T	p.P323L	AACAQSLDLNLGPWRDPRATAQQLS	AACAQSLDLNLGLWRDPRATAQQLS	5.0	4.0	unscreened	-	3713_2:74708997-74708997 G>A_AACAQSLDLNLGLWRDPRATAQQLS
1:45470289-45470289 C>T	1.0	3713	MELANOMA	-	-	-	-	HECTD3	ENST00000372168,p.E319K|uc001cmx.4,p.E58K|ENST00000372172,p.E709K|uc009vxk.3,p.E709K|uc001cmy.4,p.E319K|NM_024602,p.E709K|uc010olh.2,p.E425K	protein_coding, processed_transcript	uc010olh.2	nonsynonymous SNV	exon14	c.G1273A	p.E425K	SRFIQLVQKARLEESKEQVAAMQAG	SRFIQLVQKARLKESKEQVAAMQAG	8.0	10.0	-	-	3713_1:45470289-45470289 C>T_SRFIQLVQKARLKESKEQVAAMQAG
9:136406109-136406109 G>A	1.0	3713	MELANOMA	-	-	-	-	ADAMTSL2	NM_014694,p.G223E|ENST00000354484,p.G223E|NM_001145320,p.G223E|ENST00000393061,p.G332E|uc011mdl.2,p.G223E|ENST00000393060,p.G223E|uc004cei.3,p.G223E	protein_coding	uc011mdl.2	nonsynonymous SNV	exon7	c.G668A	p.G223E	SSCTHVTGNYRKGNAHLGYSLVTHI	SSCTHVTGNYRKENAHLGYSLVTHI	1.0	4.0	unscreened	-	3713_9:136406109-136406109 G>A_SSCTHVTGNYRKENAHLGYSLVTHI
1:159162383-159162383 G>A	1.0	3713	MELANOMA	-	-	ID=COSM897972;OCCURENCE=1(endometrium),1(skin)	-	CADM3	uc001ftk.2,p.R116Q|NM_001127173,p.R82Q|ENST00000416746,p.R82Q|ENST00000368125,p.R82Q|uc001ftl.2,p.R82Q|ENST00000368124,p.R116Q|NM_021189,p.R116Q|uc009wsx.1,p.R116Q|uc009wsy.1,p.R82Q	protein_coding, processed_transcript	uc009wsy.1	nonsynonymous SNV	exon3	c.G245A	p.R82Q	LYFGEKRALRDNRIQLVTSTPHELS	LYFGEKRALRDNQIQLVTSTPHELS	10.0	5.0	-	-	3713_1:159162383-159162383 G>A_LYFGEKRALRDNQIQLVTSTPHELS
4:184626176-184626176 C>G	1.0	3713	MELANOMA	-	-	-	-	TRAPPC11	NM_021942,p.T1003S|uc003ivy.3,p.T609S|ENST00000334690,p.T1003S|uc003ivx.3,p.T1003S|uc010isc.3,p.T347S|ENST00000357207,p.T1003S|uc003ivw.3,p.T1003S|ENST00000512476,p.T609S|NM_199053,p.T1003S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010isc.3	nonsynonymous SNV	exon15	c.C1040G	p.T347S	AMENIPIITTVITLPHVIVENIPLH	AMENIPIITTVISLPHVIVENIPLH	6.0	4.0	-	-	3713_4:184626176-184626176 C>G_AMENIPIITTVISLPHVIVENIPLH
13:20797175-20797175 C>T	0.0	3713	MELANOMA	-	-	-	-	GJB6	uc001una.4,p.A149T|NM_001110219,p.A149T|ENST00000400066,p.A149T|ENST00000356192,p.A149T|uc021rhb.1,p.A149T|NM_001110220,p.A149T|uc001umz.4,p.A149T|NM_001110221,p.A149T|uc001unc.4,p.A149T|ENST00000400065,p.A149T|NM_006783,p.A149T|ENST00000241124,p.A149T|uc001unb.4,p.A149T|uc001und.4,p.A149T	protein_coding	uc021rhb.1	nonsynonymous SNV	exon1	c.G445A	p.A149T	TSSIFFRIIFEAAFMYVFYFLYNGY	TSSIFFRIIFEATFMYVFYFLYNGY	1.0	5.0	unscreened	-	3713_13:20797175-20797175 C>T_TSSIFFRIIFEATFMYVFYFLYNGY
3:97984040-97984040 G>A	0.0	3713	MELANOMA	-	-	-	-	OR5H6	ENST00000383696,p.M304I|NM_001005479,p.M304I|uc003dsi.1,p.M304I	protein_coding	uc003dsi.1	nonsynonymous SNV	exon1	c.G912A	p.M304I	LFYTVIVPLLNPMIYSLRNKQVIAS	LFYTVIVPLLNPIIYSLRNKQVIAS	1.0	3.0	unscreened	-	3713_3:97984040-97984040 G>A_LFYTVIVPLLNPIIYSLRNKQVIAS
2:150017300-150017300 C>T	1.0	3713	MELANOMA	-	-	-	-	LYPD6B	ENST00000280115,p.L10F	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000280115	nonsynonymous SNV	exon2	c.C28T	p.L10F	MRLITLSANLFTVPERSLTTTF	MRLITLSANFFTVPERSLTTTF	1.0	7.0	unscreened	-	3713_2:150017300-150017300 C>T_MRLITLSANFFTVPERSLTTTF
2:33487859-33487859 C>T	1.0	3713	MELANOMA	-	-	-	-	LTBP1	uc010ymz.2,p.S504F|uc021vft.1,p.S830F|ENST00000413303,p.S158F|uc002rov.3,p.S451F|ENST00000402934,p.S451F|NM_206943,p.S830F|uc002rou.3,p.S504F|ENST00000407925,p.S504F|NM_001166265,p.S451F|ENST00000404525,p.S451F|ENST00000418533,p.S504F|NM_000627,p.S504F|ENST00000404816,p.S830F|NM_001166264,p.S504F|uc010yna.2,p.S451F|NM_001166266,p.S451F	protein_coding, processed_transcript	uc021vft.1	nonsynonymous SNV	exon14	c.C2489T	p.S830F	LEPGQPQLSPGISTIHLHPQFPVVI	LEPGQPQLSPGIFTIHLHPQFPVVI	4.0	8.0	-	-	3713_2:33487859-33487859 C>T_LEPGQPQLSPGIFTIHLHPQFPVVI
19:4037439-4037439 T>G	1.0	3713	MELANOMA	-	-	-	-	PIAS4	uc002lzg.3,p.W404G|NM_015897,p.W404G|ENST00000262971,p.W404G	retained_intron, protein_coding, processed_transcript	uc002lzg.3	nonsynonymous SNV	exon10	c.T1210G	p.W404G	DADEIEYLVDGSWCPIRAEKERSCS	DADEIEYLVDGSGCPIRAEKERSCS	6.0	3.0	-	-	3713_19:4037439-4037439 T>G_DADEIEYLVDGSGCPIRAEKERSCS
18:12986899-12986899 C>T	1.0	3713	MELANOMA	-	-	-	-	SEH1L	NM_001013437,p.S370L|uc002krq.3,p.S370L|ENST00000399892,p.S370L	retained_intron, protein_coding, processed_transcript	uc002krq.3	nonsynonymous SNV	exon9	c.C1109T	p.S370L	YFFTPLDSPRAGSRWSSYAQLLPPP	YFFTPLDSPRAGLRWSSYAQLLPPP	8.0	8.0	unscreened	-	3713_18:12986899-12986899 C>T_YFFTPLDSPRAGLRWSSYAQLLPPP
1:180044257-180044257 C>T	1.0	3713	MELANOMA	0.0009	-	-	-	CEP350	NM_014810,p.R1890C|uc001gnv.3,p.R25C|uc001gnt.3,p.R1890C|uc009wxl.2,p.R1889C|ENST00000367607,p.R1890C	protein_coding, processed_transcript, nonsense_mediated_decay	uc009wxl.2	nonsynonymous SNV	exon27	c.C5665T	p.R1889C	WKRRLDAEEAEIRQMEKQALAAWDK	WKRRLDAEEAEICQMEKQALAAWDK	6.0	3.0	-	-	3713_1:180044257-180044257 C>T_WKRRLDAEEAEICQMEKQALAAWDK
2:150017300-150017300 C>T	1.0	3713	MELANOMA	-	-	-	-	LYPD6B	NM_177964,p.L10F|ENST00000409642,p.L10F|ENST00000450639,p.L10F|uc002twv.1,p.L10F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002twv.1	nonsynonymous SNV	exon3	c.C28T	p.L10F	MLLITLSANLFTVPERSLTTTF	MLLITLSANFFTVPERSLTTTF	1.0	7.0	unscreened	-	3713_2:150017300-150017300 C>T_MLLITLSANFFTVPERSLTTTF
6:18122191-18122191 G>A	0.0	3713	MELANOMA	-	-	-	-	NHLRC1	uc003ncl.1,p.S216F|NM_198586,p.S216F|ENST00000340650,p.S216F	protein_coding	uc003ncl.1	nonsynonymous SNV	exon1	c.C647T	p.S216F	FGQIKLVIGGQFSLPWGVETTPQNG	FGQIKLVIGGQFFLPWGVETTPQNG	3.0	1.0	unscreened	-	3713_6:18122191-18122191 G>A_FGQIKLVIGGQFFLPWGVETTPQNG
18:59828375-59828375 G>A	1.0	3713	MELANOMA	-	-	-	-	PIGN	NM_012327,p.P71L|ENST00000585923,p.P71L|ENST00000357637,p.P71L|ENST00000588571,p.P71L|ENST00000590765,p.P35L|ENST00000585926,p.P71L|ENST00000400334,p.P71L|ENST00000585344,p.P71L|uc021ulb.1,p.P71L|ENST00000589720,p.P71L|NM_176787,p.P71L|ENST00000589339,p.P71L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ulb.1	nonsynonymous SNV	exon1	c.C212T	p.P71L	LYELDENGNSRAPFIRNIIMHEGSW	LYELDENGNSRALFIRNIIMHEGSW	7.0	8.0	unscreened	-	3713_18:59828375-59828375 G>A_LYELDENGNSRALFIRNIIMHEGSW
2:33487859-33487859 C>T	1.0	3713	MELANOMA	-	-	-	-	LTBP1	ENST00000354476,p.S830F|ENST00000390003,p.S504F|ENST00000468091,p.S147F	protein_coding, processed_transcript	ENST00000468091	nonsynonymous SNV	exon4	c.C440T	p.S147F	LEPGQPQLSPGISTIHLHPQFPGIV	LEPGQPQLSPGIFTIHLHPQFPGIV	4.0	8.0	unscreened	-	3713_2:33487859-33487859 C>T_LEPGQPQLSPGIFTIHLHPQFPGIV
11:67160151-67160151 C>T	1.0	3713	MELANOMA	-	-	-	-	RAD9A	ENST00000538013,p.P21S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000538013	nonsynonymous SNV	exon2	c.C61T	p.P21S	NVKALPPDGELLPLCLCLLSLCPAL	NVKALPPDGELLSLCLCLLSLCPAL	5.0	8.0	unscreened	-	3713_11:67160151-67160151 C>T_NVKALPPDGELLSLCLCLLSLCPAL
10:14938948-14938948 C>T	1.0	3713	MELANOMA	-	-	-	-	SUV39H2	NM_001193425,p.S34F|uc001inj.3,p.S34F|NM_001193424,p.S94F|ENST00000412254,p.S34F|ENST00000354919,p.S94F|ENST00000313519,p.S34F|NM_024670,p.S34F|ENST00000420416,p.S34F|uc021png.1,p.S94F|uc001ini.3,p.S34F|uc001inh.3,p.S34F	protein_coding, nonsense_mediated_decay	uc021png.1	nonsynonymous SNV	exon3	c.C281T	p.S94F	QNLKCPLLLQQFSNDKHNYLSQVKK	QNLKCPLLLQQFFNDKHNYLSQVKK	6.0	6.0	unscreened	-	3713_10:14938948-14938948 C>T_QNLKCPLLLQQFFNDKHNYLSQVKK
11:65325326-65325328 CAG>-	0.0	3713	MELANOMA	-	-	-	-	LTBP3	uc010roj.3,p.35_35del|uc001oej.3,p.35_35del|ENST00000528516,p.35_35del|NM_001130144,p.35_35del|NM_021070,p.35_35del|ENST00000301873,p.35_35del|ENST00000322147,p.35_35del|uc001oei.3,p.35_35del	retained_intron, protein_coding, nonsense_mediated_decay	uc010roj.3	nonframeshift deletion	exon1	c.103_105del	p.35_35del	LLALLLLLLLLLLGLGGRVEGGPAG	LLALLLLLLLLLGLGGRVEGGPAGE	9.0	1.0	unscreened	-	3713_11:65325326-65325328 CAG>-_LLALLLLLLLLLGLGGRVEGGPAGE
6:12125786-12125786 C>T	1.0	3713	MELANOMA	-	-	-	-	HIVEP1	NM_002114,p.L1920F|ENST00000379388,p.L1920F|uc003nac.3,p.L1920F	protein_coding, nonsense_mediated_decay	uc003nac.3	nonsynonymous SNV	exon4	c.C5758T	p.L1920F	NIQEQSQQPVTSLSLFNIKDTQQLA	NIQEQSQQPVTSFSLFNIKDTQQLA	7.0	7.0	-	-	3713_6:12125786-12125786 C>T_NIQEQSQQPVTSFSLFNIKDTQQLA
22:50298030-50298030 C>T	1.0	3713	MELANOMA	-	-	-	-	ALG12	ENST00000330817,p.G373S|uc003biy.3,p.G373S|NM_024105,p.G373S	protein_coding, nonsense_mediated_decay	uc003biy.3	nonsynonymous SNV	exon8	c.G1117A	p.G373S	TALYVSHFNYPGGVAMQRLHQLVPP	TALYVSHFNYPGSVAMQRLHQLVPP	5.0	2.0	unscreened	-	3713_22:50298030-50298030 C>T_TALYVSHFNYPGSVAMQRLHQLVPP
10:14938948-14938948 C>T	1.0	3713	MELANOMA	-	-	-	-	SUV39H2	ENST00000433779,p.S34F|uc021pnh.1,p.S34F|NM_001193427,p.S34F|NM_001193426,p.S94F|uc001ing.3,p.S94F|ENST00000378325,p.S94F	protein_coding, nonsense_mediated_decay	uc021pnh.1	nonsynonymous SNV	exon3	c.C101T	p.S34F	QNLKCPLLLQQFSNDKHNYLSQVIT	QNLKCPLLLQQFFNDKHNYLSQVIT	6.0	6.0	unscreened	-	3713_10:14938948-14938948 C>T_QNLKCPLLLQQFFNDKHNYLSQVIT
22:40827451-40827451 G>A	1.0	3713	MELANOMA	-	-	-	1	MKL1	uc010gye.1,p.R33W|ENST00000402630,p.R33W|NM_001282660,p.R33W|uc003ayw.1,p.R33W|uc003ayv.1,p.R33W|NM_020831,p.R33W|ENST00000402042,p.R33W|NM_001282661,p.R33W|ENST00000396617,p.R33W|ENST00000422851,p.R60W|ENST00000407029,p.R33W|ENST00000355630,p.R33W|uc010gyf.1,p.R33W|NM_001282662,p.R33W	retained_intron, protein_coding, processed_transcript	uc010gyf.1	nonsynonymous SNV	exon6	c.C97T	p.R33W	RTEDYLKRKIRSRPERSELVRMHIL	RTEDYLKRKIRSWPERSELVRMHIL	7.0	3.0	-	-	3713_22:40827451-40827451 G>A_RTEDYLKRKIRSWPERSELVRMHIL
11:6636422-6636422 G>A	1.0	3713	MELANOMA	-	-	-	-	TPP1	uc001mek.1,p.P226S|uc001mel.1,p.P469S|NM_000391,p.P469S|ENST00000299427,p.P469S|ENST00000533371,p.P226S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001mel.1	nonsynonymous SNV	exon11	c.C1405T	p.P469S	DGYWVVSNRVPIPWVSGTSASTPVF	DGYWVVSNRVPISWVSGTSASTPVF	10.0	7.0	-	-	3713_11:6636422-6636422 G>A_DGYWVVSNRVPISWVSGTSASTPVF
7:73791033-73791033 C>G	1.0	3713	MELANOMA	-	-	-	-	CLIP2	ENST00000395060,p.R768G|ENST00000223398,p.R768G|NM_032421,p.R733G|uc003uam.3,p.R768G|uc003uan.3,p.R733G|ENST00000361545,p.R733G|uc003uao.3,p.R162G|NM_003388,p.R768G	retained_intron, protein_coding	uc003uao.3	nonsynonymous SNV	exon1	c.C484G	p.R162G	ISLAEKKMLDYERLQRAEAQGKQEV	ISLAEKKMLDYEGLQRAEAQGKQEV	8.0	9.0	-	-	3713_7:73791033-73791033 C>G_ISLAEKKMLDYEGLQRAEAQGKQEV
17:27064504-27064507 ACCG>-	0.0	3713	MELANOMA	-	-	-	-	NEK8	ENST00000543014,p.T267fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000543014	frameshift deletion	exon5	c.799_802del	p.T267fs	QPLCIRALLNLHTDVGSVRMRRPVQ	QPLCIRALLNLHTWAVSACGGLCRDSERSWAAGCGHPVGAQEV	2.0	1.0	unscreened	-	3713_17:27064504-27064507 ACCG>-_QPLCIRALLNLHTWAVSACGGLCRDSERSWAAGCGHPVGAQEV
11:74904272-74904272 G>A	0.0	3713	MELANOMA	-	-	-	-	SLCO2B1	uc001owb.3,p.R362K|ENST00000341411,p.R135K|uc010rrs.2,p.R246K|ENST00000531756,p.R107K|ENST00000454962,p.R135K|uc010rrq.2,p.R107K|ENST00000532236,p.R246K|ENST00000525650,p.R218K|NM_007256,p.R362K|ENST00000428359,p.R340K|ENST00000289575,p.R362K|NM_001145212,p.R218K|uc001owc.3,p.R135K|uc001owd.3,p.R340K|uc010rrr.2,p.R218K|NM_001145211,p.R340K	retained_intron, protein_coding, processed_transcript, TEC	uc010rrs.2	nonsynonymous SNV	exon7	c.G737A	p.R246K	NLTVIQFIKVFPRVLLQTLRHPIFL	NLTVIQFIKVFPKVLLQTLRHPIFL	9.0	10.0	unscreened	-	3713_11:74904272-74904272 G>A_NLTVIQFIKVFPKVLLQTLRHPIFL
17:19850794-19850794 G>A	1.0	3713	MELANOMA	-	-	-	-	AKAP10	ENST00000225737,p.T301I|uc010vze.2,p.T222I|uc002gwo.4,p.T301I|uc002gwp.2,p.T279I|uc010cqw.2,p.T279I|NM_007202,p.T301I|ENST00000395536,p.T301I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vze.2	nonsynonymous SNV	exon5	c.C665T	p.T222I	KLMKSIEQDAVNTFTKYISPDAAKP	KLMKSIEQDAVNIFTKYISPDAAKP	5.0	10.0	-	-	3713_17:19850794-19850794 G>A_KLMKSIEQDAVNIFTKYISPDAAKP
7:101882690-101882690 C>T	1.0	3713	MELANOMA	-	-	-	1	CUX1	ENST00000549414,p.P1216L|uc003uys.4,p.P1249L|ENST00000292535,p.P1238L|ENST00000550008,p.P1182L|uc003uyx.4,p.P1238L|NM_001202543,p.P1249L|NM_181552,p.P1238L|ENST00000556210,p.P1080L|ENST00000360264,p.P1249L|ENST00000546411,p.P1136L	retained_intron, protein_coding, processed_transcript	uc003uyx.4	nonsynonymous SNV	exon23	c.C3713T	p.P1238L	PSVGTEYSQGASPQPQHQLKKPRVV	PSVGTEYSQGASLQPQHQLKKPRVV	8.0	1.0	unscreened	-	3713_7:101882690-101882690 C>T_PSVGTEYSQGASLQPQHQLKKPRVV
18:39584422-39584422 T>A	1.0	3713	MELANOMA	-	-	-	-	PIK3C3	NM_002647,p.S363T|ENST00000398870,p.S300T|ENST00000262039,p.S363T|uc002lap.3,p.S363T|uc010xcl.2,p.S300T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xcl.2	nonsynonymous SNV	exon9	c.T898A	p.S300T	LLGKWKPMDVEDSLELLSSHYTNPT	LLGKWKPMDVEDTLELLSSHYTNPT	6.0	5.0	-	-	3713_18:39584422-39584422 T>A_LLGKWKPMDVEDTLELLSSHYTNPT
17:26096140-26096140 G>A	0.0	3713	MELANOMA	-	-	-	-	NOS2	uc002gzu.3,p.R633W|NM_000625,p.R633W|uc010wab.1,p.R598W|ENST00000313735,p.R633W	protein_coding	uc010wab.1	nonsynonymous SNV	exon16	c.C1792T	p.R598W	YAVFGLGSSMYPRFCAFAHDIDQKL	YAVFGLGSSMYPWFCAFAHDIDQKL	1.0	10.0	unscreened	-	3713_17:26096140-26096140 G>A_YAVFGLGSSMYPWFCAFAHDIDQKL
4:123165157-123165157 C>A	1.0	3713	MELANOMA	-	-	-	-	KIAA1109	ENST00000455637,p.P1631T|ENST00000388738,p.P1631T|uc003iek.2,p.P250T|uc003ieh.3,p.P1631T|NM_015312,p.P1631T|ENST00000264501,p.P1631T	retained_intron, protein_coding, processed_transcript	uc003iek.2	nonsynonymous SNV	exon3	c.C748A	p.P250T	VEVKGTVDIVLTPLVAEALDRYIEA	VEVKGTVDIVLTTLVAEALDRYIEA	8.0	8.0	-	-	3713_4:123165157-123165157 C>A_VEVKGTVDIVLTTLVAEALDRYIEA
7:158738280-158738280 C>T	1.0	3713	MELANOMA	-	-	-	-	WDR60	uc010lqw.3,p.A636V|ENST00000454771,p.A134V|uc003woe.4,p.A1004V|ENST00000407559,p.A1004V|NM_018051,p.A1004V	retained_intron, protein_coding, nonsense_mediated_decay	uc010lqw.3	nonsynonymous SNV	exon20	c.C1907T	p.A636V	VAKQQVSPNRLVAMAAVGEPEKAGG	VAKQQVSPNRLVVMAAVGEPEKAGG	7.0	8.0	-	-	3713_7:158738280-158738280 C>T_VAKQQVSPNRLVVMAAVGEPEKAGG
1:115615546-115615546 G>A	1.0	3713	MELANOMA	-	-	-	-	TSPAN2	ENST00000369516,p.S51F|NM_005725,p.S51F|uc001eft.3,p.S51F|uc021osc.1,p.S51F|ENST00000433172,p.S45F|ENST00000369515,p.S51F|ENST00000369514,p.S51F	protein_coding, processed_transcript	uc021osc.1	nonsynonymous SNV	exon2	c.C152T	p.S51F	GGAIKELSSEDKSPEYFYVGLYVLV	GGAIKELSSEDKFPEYFYVGLYVLV	1.0	3.0	unscreened	-	3713_1:115615546-115615546 G>A_GGAIKELSSEDKFPEYFYVGLYVLV
20:33329522-33329522 A>G	1.0	3713	MELANOMA	-	-	-	-	NCOA6	uc021wce.1,p.L1513P|uc002xav.3,p.L1513P|ENST00000359003,p.L1513P|uc002xaw.3,p.L1513P|ENST00000374796,p.L1513P|NM_014071,p.L1513P	retained_intron, protein_coding, processed_transcript	uc021wce.1	nonsynonymous SNV	exon9	c.T4538C	p.L1513P	PNVTIKPPGLTDLEVTPPVVSGEDL	PNVTIKPPGLTDPEVTPPVVSGEDL	7.0	10.0	-	-	3713_20:33329522-33329522 A>G_PNVTIKPPGLTDPEVTPPVVSGEDL
1:92646474-92646474 T>A	1.0	3713	MELANOMA	-	-	-	-	KIAA1107	NM_015237,p.D640E|ENST00000409154,p.D695E|uc001dop.3,p.D565E|ENST00000370378,p.D640E|uc010otd.2,p.D640E	protein_coding	uc010otd.2	nonsynonymous SNV	exon8	c.T1920A	p.D640E	DAANICCHSVGSDNVNSKFYSTTAL	DAANICCHSVGSENVNSKFYSTTAL	1.0	3.0	unscreened	-	3713_1:92646474-92646474 T>A_DAANICCHSVGSENVNSKFYSTTAL
6:36104467-36104467 C>T	1.0	3713	MELANOMA	-	-	-	-	MAPK13	ENST00000373759,p.A99V|uc003ols.4,p.A177V|NM_002754,p.A177V|ENST00000373766,p.A177V|ENST00000211287,p.A177V|ENST00000373761,p.A167V	protein_coding, processed_transcript	uc003ols.4	nonsynonymous SNV	exon7	c.C530T	p.A177V	KILDFGLARHADAEMTGYVVTRWYR	KILDFGLARHADVEMTGYVVTRWYR	4.0	8.0	-	-	3713_6:36104467-36104467 C>T_KILDFGLARHADVEMTGYVVTRWYR
19:11304307-11304307 G>A	1.0	3713	MELANOMA	-	-	-	-	KANK2	uc002mqo.4,p.P150L|uc002mqm.3,p.P150L|uc021upe.1,p.P150L|ENST00000586659,p.P150L|ENST00000589894,p.P150L|NM_001136191,p.P150L|ENST00000355150,p.P150L|ENST00000432929,p.P150L|uc002mqq.3,p.P150L|ENST00000589359,p.P150L|NM_015493,p.P150L	retained_intron, protein_coding, processed_transcript	uc021upe.1	nonsynonymous SNV	exon3	c.C449T	p.P150L	QAATPTGLGSLTPSAAGSTASLVGV	QAATPTGLGSLTLSAAGSTASLVGV	9.0	10.0	-	-	3713_19:11304307-11304307 G>A_QAATPTGLGSLTLSAAGSTASLVGV
20:37547200-37547200 G>A	0.0	3713	MELANOMA	-	-	-	-	PPP1R16B	NM_015568,p.G532E|uc010ggc.3,p.G490E|ENST00000373331,p.G490E|NM_001172735,p.G490E|uc002xje.3,p.G532E|ENST00000299824,p.G532E	protein_coding, processed_transcript	uc010ggc.3	nonsynonymous SNV	exon10	c.G1469A	p.G490E	LIGGRTSPYSSNGTSVYYTVTSGDP	LIGGRTSPYSSNETSVYYTVTSGDP	5.0	1.0	unscreened	-	3713_20:37547200-37547200 G>A_LIGGRTSPYSSNETSVYYTVTSGDP
1:94652145-94652145 G>A	1.0	3713	MELANOMA	-	-	-	-	ARHGAP29	ENST00000552844,p.H564Y|NM_004815,p.H564Y|uc001dqj.4,p.H564Y|uc001dqk.3,p.H130Y|ENST00000260526,p.H564Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001dqk.3	nonsynonymous SNV	exon4	c.C388T	p.H130Y	SLDSESISPGDFHRKLPRTPSSGTM	SLDSESISPGDFYRKLPRTPSSGTM	3.0	2.0	-	-	3713_1:94652145-94652145 G>A_SLDSESISPGDFYRKLPRTPSSGTM
7:814737-814737 A>T	1.0	3713	MELANOMA	-	-	-	-	HEATR2	uc010krz.1,p.N726I|uc003sjb.2,p.N106I|NM_017802,p.N726I|ENST00000313147,p.N726I|uc003siz.2,p.N594I|ENST00000403952,p.N151I|ENST00000297440,p.N726I|uc003sjc.2,p.N151I	retained_intron, protein_coding, processed_transcript	uc010krz.1	nonsynonymous SNV	exon11	c.A2177T	p.N726I	SKMTRLISCRIINTFLKTSGGMTDP	SKMTRLISCRIIITFLKTSGGMTDP	6.0	6.0	-	-	3713_7:814737-814737 A>T_SKMTRLISCRIIITFLKTSGGMTDP
11:102661231-102661231 C>T	0.0	3713	MELANOMA	-	-	-	-	MMP1	NM_002421,p.G441E|uc001phi.2,p.G441E|NM_001145938,p.G375E|ENST00000315274,p.G441E|uc010ruv.1,p.G375E	protein_coding	uc010ruv.1	nonsynonymous SNV	exon10	c.G1124A	p.G375E	VFMKDGFFYFFHGTRQYKFDPKTKR	VFMKDGFFYFFHETRQYKFDPKTKR	3.0	1.0	unscreened	-	3713_11:102661231-102661231 C>T_VFMKDGFFYFFHETRQYKFDPKTKR
6:166844017-166844017 C>T	1.0	3713	MELANOMA	-	-	-	-	RPS6KA2	uc003qvd.1,p.R527K|uc003qvb.1,p.R502K|ENST00000510118,p.R527K|ENST00000405189,p.R413K|uc010kkl.1,p.R413K|ENST00000503859,p.R510K|ENST00000481261,p.R413K|ENST00000265678,p.R502K|uc003qvc.1,p.R510K|NM_021135,p.R502K|NM_001006932,p.R510K|uc011ego.1,p.R413K	protein_coding, processed_transcript	uc011ego.1	nonsynonymous SNV	exon16	c.G1238A	p.R413K	RGGELLDRILRQRYFSEREASDVLC	RGGELLDRILRQKYFSEREASDVLC	6.0	8.0	-	-	3713_6:166844017-166844017 C>T_RGGELLDRILRQKYFSEREASDVLC
7:82545660-82545660 G>A	1.0	3713	MELANOMA	-	-	-	-	PCLO	ENST00000333891,p.P3881L|NM_033026,p.P3881L|ENST00000423517,p.P3881L|uc003uhv.2,p.P3881L|NM_014510,p.P3881L|uc010lec.3,p.P846L|ENST00000437081,p.P601L|uc003uhx.2,p.P3881L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lec.3	nonsynonymous SNV	exon2	c.C2537T	p.P846L	PPQTQTESQLVPPTSPYTQYQYSSP	PPQTQTESQLVPLTSPYTQYQYSSP	2.0	2.0	unscreened	-	3713_7:82545660-82545660 G>A_PPQTQTESQLVPLTSPYTQYQYSSP
19:15541936-15541936 G>A	1.0	3713	MELANOMA	-	-	-	-	WIZ	ENST00000599910,p.P12L|ENST00000599686,p.P12L|uc002nba.4,p.P12L|uc002nbc.3,p.P12L|ENST00000594915,p.P12L	retained_intron, protein_coding, processed_transcript	uc002nbc.3	nonsynonymous SNV	exon1	c.C35T	p.P12L	MVAMDLGSPSLPKKSLPVPGALEQ	MVAMDLGSPSLLKKSLPVPGALEQ	7.0	2.0	unscreened	-	3713_19:15541936-15541936 G>A_MVAMDLGSPSLLKKSLPVPGALEQ
1:12321053-12321053 C>T	1.0	3713	MELANOMA	-	-	-	-	VPS13D	uc001atv.3,p.P421S|ENST00000356315,p.P421S|NM_018156,p.P421S|NM_015378,p.P421S|ENST00000358136,p.P421S|uc001atw.3,p.P421S	protein_coding, processed_transcript	uc001atw.3	nonsynonymous SNV	exon12	c.C1261T	p.P421S	PQFDSPGACPGAPEPGGGSGMLQYL	PQFDSPGACPGASEPGGGSGMLQYL	8.0	8.0	-	-	3713_1:12321053-12321053 C>T_PQFDSPGACPGASEPGGGSGMLQYL
X:57146290-57146290 G>A	1.0	3713	MELANOMA	-	-	-	-	SPIN2B	NM_001006683,p.S258F|NM_001006682,p.S258F|NM_001282462,p.S157F|ENST00000374912,p.S258F|uc004dva.3,p.S258F|uc004duz.3,p.S258F|ENST00000374910,p.S157F|uc004duy.3,p.S258F|ENST00000275988,p.S258F|NM_001282461,p.S157F|ENST00000333933,p.S258F|NM_001006681,p.S258F|uc022bxw.1,p.S258F	protein_coding, processed_transcript	uc022bxw.1	nonsynonymous SNV	exon1	c.C773T	p.S258F	DFHIYVYDLVKKS	DFHIYVYDLVKKF	6.0	6.0	-	-	3713_X:57146290-57146290 G>A_DFHIYVYDLVKKF
3:134266215-134266215 C>T	1.0	3713	MELANOMA	-	-	-	-	CEP63	ENST00000337090,p.S323F|ENST00000513612,p.S323F|uc003eqn.1,p.S323F|ENST00000383229,p.S323F|NM_001042400,p.S323F|ENST00000606977,p.S323F|uc003eqo.1,p.S323F|NM_025180,p.S323F	retained_intron, protein_coding, processed_transcript	uc003eqo.1	nonsynonymous SNV	exon10	c.C968T	p.S323F	PREESLAEKKYTSQGQGDLDSVLSQ	PREESLAEKKYTFQGQGDLDSVLSQ	6.0	10.0	-	-	3713_3:134266215-134266215 C>T_PREESLAEKKYTFQGQGDLDSVLSQ
X:153006141-153006141 T>A	0.0	3713	MELANOMA	-	-	-	-	ABCD1	NM_000033,p.V583E|uc004fif.2,p.V583E|ENST00000218104,p.V583E	protein_coding	uc004fif.2	nonsynonymous SNV	exon7	c.T1748A	p.V583E	YSEQDLEAILDVVHLHHILQREGGW	YSEQDLEAILDVEHLHHILQREGGW	6.0	1.0	unscreened	-	3713_X:153006141-153006141 T>A_YSEQDLEAILDVEHLHHILQREGGW
20:61511172-61511172 G>A	1.0	3713	MELANOMA	-	-	-	-	DIDO1	uc002ydr.2,p.P2046S|ENST00000266070,p.P2046S|ENST00000395343,p.P2046S|uc002yds.2,p.P2046S|NM_033081,p.P2046S|NM_001193369,p.P2046S	protein_coding	uc002yds.2	nonsynonymous SNV	exon16	c.C6136T	p.P2046S	PQHRKDRWEEAGPPSALSSSAPGQG	PQHRKDRWEEAGSPSALSSSAPGQG	9.0	9.0	-	-	3713_20:61511172-61511172 G>A_PQHRKDRWEEAGSPSALSSSAPGQG
1:92648068-92648068 C>T	1.0	3713	MELANOMA	-	-	-	-	KIAA1107	NM_015237,p.R1172W|ENST00000409154,p.R1227W|uc001dop.3,p.R1097W|ENST00000370378,p.R1172W|uc010otd.2,p.R1172W	protein_coding	uc010otd.2	nonsynonymous SNV	exon8	c.C3514T	p.R1172W	PKNSSTKSLDSFRSQVLPQEGPVKE	PKNSSTKSLDSFWSQVLPQEGPVKE	1.0	10.0	unscreened	-	3713_1:92648068-92648068 C>T_PKNSSTKSLDSFWSQVLPQEGPVKE
5:178548703-178548703 G>A	1.0	3713	MELANOMA	-	-	-	-	ADAMTS2	NM_014244,p.S1046F|uc003mjw.3,p.S1046F|ENST00000251582,p.S1046F	retained_intron, protein_coding	uc003mjw.3	nonsynonymous SNV	exon21	c.C3137T	p.S1046F	DPSKKSYVVQWLSRPDPDSPIRKIS	DPSKKSYVVQWLFRPDPDSPIRKIS	3.0	2.0	-	-	3713_5:178548703-178548703 G>A_DPSKKSYVVQWLFRPDPDSPIRKIS
9:27202914-27202914 C>T	0.0	3713	MELANOMA	-	-	-	-	TEK	uc003zqi.4,p.S669F|NM_000459,p.S669F|uc011lnp.2,p.S522F|ENST00000519097,p.S522F|NM_001290077,p.S626F|ENST00000406359,p.S626F|NM_001290078,p.S522F|uc003zqj.1,p.S603F|ENST00000380036,p.S669F|uc011lno.2,p.S626F	protein_coding, nonsense_mediated_decay	uc011lnp.2	nonsynonymous SNV	exon11	c.C1565T	p.S522F	ISWTILDGYSISSITIRYKVQGKNE	ISWTILDGYSISFITIRYKVQGKNE	2.0	9.0	unscreened	-	3713_9:27202914-27202914 C>T_ISWTILDGYSISFITIRYKVQGKNE
20:47607733-47607733 G>A	1.0	3713	MELANOMA	-	-	-	-	ARFGEF2	uc010zyf.2,p.E284K|ENST00000371917,p.E991K|uc002xtx.4,p.E991K|NM_006420,p.E991K	protein_coding, processed_transcript	uc010zyf.2	nonsynonymous SNV	exon7	c.G850A	p.E284K	HTDGNYLGNSWHEILKCISQLELAQ	HTDGNYLGNSWHKILKCISQLELAQ	7.0	9.0	-	-	3713_20:47607733-47607733 G>A_HTDGNYLGNSWHKILKCISQLELAQ
14:104212803-104212803 G>A	1.0	3713	MELANOMA	-	-	-	-	PPP1R13B	ENST00000202556,p.P353S|uc001yof.1,p.P353S|NM_015316,p.P353S|uc001yog.1,p.P220S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001yog.1	nonsynonymous SNV	exon10	c.C658T	p.P220S	GRVAAVGPYIQVPSAGSFPVLGDPI	GRVAAVGPYIQVSSAGSFPVLGDPI	4.0	10.0	unscreened	-	3713_14:104212803-104212803 G>A_GRVAAVGPYIQVSSAGSFPVLGDPI
7:138429910-138429910 G>A	0.0	3713	MELANOMA	-	-	-	-	ATP6V0A4	uc003vuh.3,p.S479F|ENST00000393054,p.S479F|NM_130841,p.S479F|NM_020632,p.S479F|NM_130840,p.S479F|uc003vuf.3,p.S479F|ENST00000353492,p.S479F|ENST00000310018,p.S479F|uc003vug.3,p.S479F	retained_intron, protein_coding, processed_transcript	uc003vuh.3	nonsynonymous SNV	exon13	c.C1436T	p.S479F	NDCFSKSLNIFGSSWSVQPMFRNGT	NDCFSKSLNIFGFSWSVQPMFRNGT	2.0	1.0	unscreened	-	3713_7:138429910-138429910 G>A_NDCFSKSLNIFGFSWSVQPMFRNGT
3:10261383-10261383 C>T	1.0	3713	MELANOMA	-	-	-	-	IRAK2	ENST00000256458,p.P308L|NM_001570,p.P308L|uc003bve.1,p.P308L	protein_coding	uc003bve.1	nonsynonymous SNV	exon8	c.C923T	p.P308L	DRLQGQGGSDPLPWPQRVSICSGLL	DRLQGQGGSDPLLWPQRVSICSGLL	3.0	2.0	unscreened	-	3713_3:10261383-10261383 C>T_DRLQGQGGSDPLLWPQRVSICSGLL
7:129765759-129765759 C>T	1.0	3713	MELANOMA	-	-	-	-	KLHDC10	ENST00000335420,p.H307Y|NM_014997,p.H307Y|uc003vpj.2,p.H307Y|uc003vpk.2,p.H278Y|uc010lmb.2,p.H204Y	protein_coding, processed_transcript	uc010lmb.2	nonsynonymous SNV	exon5	c.C610T	p.H204Y	ETNAWEEIATKPHEKIGFPAARRCH	ETNAWEEIATKPYEKIGFPAARRCH	8.0	1.0	unscreened	-	3713_7:129765759-129765759 C>T_ETNAWEEIATKPYEKIGFPAARRCH
12:7980134-7980134 G>A	0.0	3713	MELANOMA	-	-	-	-	SLC2A14	NM_001286234,p.S274F|ENST00000535295,p.S188F|ENST00000543909,p.S297F|uc001qtn.3,p.S297F|NM_001286236,p.S188F|uc001qtm.3,p.S274F|uc001qtk.3,p.S297F|uc001qtl.3,p.S274F|NM_001286237,p.S312F|ENST00000431042,p.S274F|uc010sgh.2,p.S312F|ENST00000396589,p.S297F|uc010sgg.2,p.S188F|NM_001286235,p.S274F|ENST00000340749,p.S274F|ENST00000539924,p.S312F|ENST00000542546,p.S188F|NM_001286233,p.S297F|NM_153449,p.S297F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sgh.2	nonsynonymous SNV	exon6	c.C935T	p.S312F	FRVSSYRQPIIISIVLQLSQQLSGI	FRVSSYRQPIIIFIVLQLSQQLSGI	7.0	5.0	unscreened	-	3713_12:7980134-7980134 G>A_FRVSSYRQPIIIFIVLQLSQQLSGI
5:167933781-167933781 C>T	1.0	3713	MELANOMA	-	-	-	-	RARS	NM_002887,p.P431S|uc003lzx.3,p.P431S|uc011deo.2,p.P225S|ENST00000231572,p.P431S|ENST00000538719,p.P225S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011deo.2	nonsynonymous SNV	exon10	c.C673T	p.P225S	IFAAAQMIGWYDPKVTRVFHAGFGV	IFAAAQMIGWYDSKVTRVFHAGFGV	9.0	8.0	-	-	3713_5:167933781-167933781 C>T_IFAAAQMIGWYDSKVTRVFHAGFGV
5:161324352-161324352 G>A	0.0	3713	MELANOMA	-	-	-	-	GABRA1	uc010jix.3,p.G432E|ENST00000023897,p.G432E|ENST00000420560,p.G432E|uc010jiw.3,p.G432E|NM_001127644,p.G432E|ENST00000393943,p.G432E|NM_001127643,p.G432E|uc010jiy.3,p.G432E|NM_001127648,p.G432E|NM_001127645,p.G432E|NM_000806,p.G432E|uc010jjb.3,p.G432E|ENST00000444819,p.G432E|uc003lyx.4,p.G432E|ENST00000428797,p.G432E|ENST00000437025,p.G432E	retained_intron, protein_coding	uc010jjb.3	nonsynonymous SNV	exon9	c.G1295A	p.G432E	DRLSRIAFPLLFGIFNLVYWATYLN	DRLSRIAFPLLFEIFNLVYWATYLN	1.0	9.0	unscreened	-	3713_5:161324352-161324352 G>A_DRLSRIAFPLLFEIFNLVYWATYLN
20:3914823-3914823 G>A	1.0	3713	MELANOMA	-	-	ID=COSM178828;OCCURENCE=1(large_intestine)	-	RNF24	ENST00000545616,p.R133C|NM_007219,p.R112C|uc002wkh.2,p.R112C|ENST00000336095,p.R112C|uc002wki.2,p.R133C|NM_001134338,p.R133C|ENST00000432261,p.R133C|uc002wkj.2,p.R112C|ENST00000358395,p.R112C|NM_001134337,p.R112C	protein_coding	uc002wkj.2	nonsynonymous SNV	exon6	c.C334T	p.R112C	FHRKCLIKWLEVRKVCPLCNMPVLQ	FHRKCLIKWLEVCKVCPLCNMPVLQ	8.0	9.0	-	-	3713_20:3914823-3914823 G>A_FHRKCLIKWLEVCKVCPLCNMPVLQ
17:27064504-27064507 ACCG>-	0.0	3713	MELANOMA	-	-	-	-	NEK8	uc002hcp.3,p.T267fs|ENST00000268766,p.T267fs|NM_178170,p.T267fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002hcp.3	frameshift deletion	exon5	c.799_802del	p.T267fs	QPLCIRALLNLHTDVGSVRMRRAEK	QPLCIRALLNLHTWAVSACGGQRSPWPPATQGAGPPVSAAEVSPGDL	2.0	1.0	unscreened	-	3713_17:27064504-27064507 ACCG>-_QPLCIRALLNLHTWAVSACGGQRSPWPPATQGAGPPVSAAEVSPGDL
8:56864641-56864641 C>T	0.0	3713	MELANOMA	-	-	-	-	LYN	ENST00000519728,p.P202S|uc003xsk.4,p.P202S|uc003xsl.4,p.P181S|NM_002350,p.P202S|NM_001111097,p.P181S|ENST00000520220,p.P181S	protein_coding, processed_transcript	uc003xsl.4	nonsynonymous SNV	exon7	c.C541T	p.P181S	NGGYYISPRITFPCISDMIKHYQKQ	NGGYYISPRITFSCISDMIKHYQKQ	7.0	2.0	unscreened	-	3713_8:56864641-56864641 C>T_NGGYYISPRITFSCISDMIKHYQKQ
12:7310285-7310285 G>A	1.0	3713	MELANOMA	-	-	-	-	CLSTN3	NM_014718,p.E910K|ENST00000266546,p.E910K|ENST00000537408,p.E922K|uc001qss.3,p.E922K|uc001qsr.3,p.E910K	retained_intron, protein_coding, processed_transcript	uc001qss.3	nonsynonymous SNV	exon16	c.G2764A	p.E922K	DDSALTIIVNPMESYQNRQSCVTGA	DDSALTIIVNPMKSYQNRQSCVTGA	8.0	1.0	unscreened	-	3713_12:7310285-7310285 G>A_DDSALTIIVNPMKSYQNRQSCVTGA
3:124746237-124746237 A>C	1.0	3713	MELANOMA	-	-	-	-	HEG1	uc011bke.2,p.L242R|uc003ehs.4,p.L242R|ENST00000311127,p.L242R|NM_020733,p.L242R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bke.2	nonsynonymous SNV	exon3	c.T725G	p.L242R	TASEMGTERAMGLSEEWTVHSQEAT	TASEMGTERAMGRSEEWTVHSQEAT	6.0	9.0	-	-	3713_3:124746237-124746237 A>C_TASEMGTERAMGRSEEWTVHSQEAT
11:56143574-56143574 C>T	0.0	3713	MELANOMA	-	-	-	-	OR8U1,OR8U8	uc001nit.2,p.H159Y|ENST00000302270,p.H159Y|NM_001005204,p.H159Y	protein_coding	uc001nit.2	nonsynonymous SNV	exon1	c.C475T	p.H159Y	VPYSYSFLMALFHTILTFRLSYCHS	VPYSYSFLMALFYTILTFRLSYCHS	1.0	3.0	unscreened	-	3713_11:56143574-56143574 C>T_VPYSYSFLMALFYTILTFRLSYCHS
19:2228218-2228218 C>T	1.0	3713	MELANOMA	-	-	-	-	DOT1L	uc002lvc.1,p.R991W|ENST00000457590,p.R612W	retained_intron, protein_coding, processed_transcript	uc002lvc.1	nonsynonymous SNV	exon14	c.C2971T	p.R991W	RPSFTVHHQPLPRLALAQAAPGIPQ	RPSFTVHHQPLPWLALAQAAPGIPQ	6.0	3.0	-	-	3713_19:2228218-2228218 C>T_RPSFTVHHQPLPWLALAQAAPGIPQ
21:37586812-37586812 C>T	1.0	3713	MELANOMA	-	-	-	-	DOPEY2	uc002yvg.3,p.P363S|NM_005128,p.P363S|ENST00000399151,p.P363S|uc011aeb.2,p.P363S	retained_intron, protein_coding, processed_transcript	uc011aeb.2	nonsynonymous SNV	exon8	c.C1087T	p.P363S	ADVEERHHAYLKPFRVLISLLDKPE	ADVEERHHAYLKSFRVLISLLDKPE	4.0	8.0	-	-	3713_21:37586812-37586812 C>T_ADVEERHHAYLKSFRVLISLLDKPE
10:15326092-15326092 T>G	1.0	3713	MELANOMA	-	-	-	-	FAM171A1	uc001iob.3,p.K37T|ENST00000455654,p.K37T|ENST00000378116,p.K37T|NM_001010924,p.K37T	protein_coding, processed_transcript	uc001iob.3	nonsynonymous SNV	exon2	c.A110C	p.K37T	REPGAGAQEVTLKVHISDASTHQPV	REPGAGAQEVTLTVHISDASTHQPV	2.0	9.0	unscreened	-	3713_10:15326092-15326092 T>G_REPGAGAQEVTLTVHISDASTHQPV
7:76027105-76027105 C>T	1.0	3713	MELANOMA	-	-	-	-	SSC4D	uc003ufb.3,p.G200S|NM_080744,p.G200S|ENST00000275560,p.G200S	protein_coding, processed_transcript	uc003ufb.3	nonsynonymous SNV	exon6	c.G598A	p.G200S	SVRLVGGANLCQGRVEILHSGLWGT	SVRLVGGANLCQSRVEILHSGLWGT	1.0	1.0	unscreened	-	3713_7:76027105-76027105 C>T_SVRLVGGANLCQSRVEILHSGLWGT
9:139976454-139976454 C>T	1.0	3713	MELANOMA	-	-	-	-	UAP1L1	ENST00000409858,p.P457S|uc010ncb.3,p.P457S|uc004cla.4,p.P334S|NM_207309,p.P457S|ENST00000360271,p.P334S	retained_intron, protein_coding, processed_transcript	uc010ncb.3	nonsynonymous SNV	exon8	c.C1369T	p.P457S	AHGAWLPELPSLPPNGDPPAICEIS	AHGAWLPELPSLSPNGDPPAICEIS	8.0	4.0	-	-	3713_9:139976454-139976454 C>T_AHGAWLPELPSLSPNGDPPAICEIS
6:6196109-6196109 C>T	0.0	3713	MELANOMA	-	-	-	-	F13A1	uc011dib.2,p.R346Q|uc003mwv.3,p.R409Q|NM_000129,p.R409Q|ENST00000264870,p.R409Q	retained_intron, protein_coding	uc011dib.2	nonsynonymous SNV	exon9	c.G1037A	p.R346Q	DSTPQENSDGMYRCGPASVQAIKHG	DSTPQENSDGMYQCGPASVQAIKHG	7.0	1.0	unscreened	-	3713_6:6196109-6196109 C>T_DSTPQENSDGMYQCGPASVQAIKHG
17:19616024-19616024 C>T	0.0	3713	MELANOMA	-	-	-	-	SLC47A2	uc002gwg.4,p.G160R|uc002gwe.4,p.G160R|NM_001256663,p.G160R|NM_001099646,p.G160R|NM_152908,p.G160R|ENST00000350657,p.G160R|ENST00000325411,p.G160R|ENST00000574239,p.G160R|uc002gwf.4,p.G160R|ENST00000433844,p.G160R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gwg.4	nonsynonymous SNV	exon5	c.G478A	p.G160R	RLTQDYVMIFIPGLPVIFLYNLLAK	RLTQDYVMIFIPRLPVIFLYNLLAK	1.0	3.0	unscreened	-	3713_17:19616024-19616024 C>T_RLTQDYVMIFIPRLPVIFLYNLLAK
14:91700581-91700581 G>A	0.0	3713	MELANOMA	-	-	-	-	GPR68	NM_003485,p.L272F|uc001xzh.3,p.L272F|ENST00000529102,p.L272F|ENST00000535815,p.L272F|ENST00000238699,p.L282F|NM_001177676,p.L272F|uc021ryk.1,p.L272F|ENST00000531499,p.L272F|uc001xzg.3,p.L272F	protein_coding, processed_transcript	uc021ryk.1	nonsynonymous SNV	exon1	c.C814T	p.L272F	FAKGVFNAYHFSLLLTSFNCVADPV	FAKGVFNAYHFSFLLTSFNCVADPV	5.0	1.0	unscreened	-	3713_14:91700581-91700581 G>A_FAKGVFNAYHFSFLLTSFNCVADPV
22:38131009-38131009 G>A	0.0	3713	MELANOMA	-	-	-	-	TRIOBP	ENST00000406386,p.E1556K|uc003atu.3,p.E1384K|NM_001039141,p.E1556K|uc003atr.3,p.E1556K	retained_intron, protein_coding, nonsense_mediated_decay	uc003atu.3	nonsynonymous SNV	exon7	c.G4150A	p.E1384K	ACPYPRGSERRPELDWRDLLGLLRA	ACPYPRGSERRPKLDWRDLLGLLRA	10.0	6.0	-	-	3713_22:38131009-38131009 G>A_ACPYPRGSERRPKLDWRDLLGLLRA
2:96964654-96964654 G>A	1.0	3713	MELANOMA	-	-	-	-	SNRNP200	uc002svu.3,p.R261W|ENST00000323853,p.R261W|ENST00000349783,p.R261W|NM_014014,p.R261W	retained_intron, protein_coding, nonsense_mediated_decay	uc002svu.3	nonsynonymous SNV	exon7	c.C781T	p.R261W	ELMSSKKKDLHPRDIDAFWLQRQLS	ELMSSKKKDLHPWDIDAFWLQRQLS	9.0	4.0	-	-	3713_2:96964654-96964654 G>A_ELMSSKKKDLHPWDIDAFWLQRQLS
1:247752428-247752428 G>A	0.0	3713	MELANOMA	-	-	-	-	OR2G2	ENST00000320065,p.G256E|uc010pyy.2,p.G256E|NM_001001915,p.G256E	protein_coding	uc010pyy.2	nonsynonymous SNV	exon1	c.G767A	p.G256E	CFSHLTVVTIFYGTIIFMYLQPAKS	CFSHLTVVTIFYETIIFMYLQPAKS	1.0	5.0	unscreened	-	3713_1:247752428-247752428 G>A_CFSHLTVVTIFYETIIFMYLQPAKS
6:42832567-42832567 C>T	1.0	3713	MELANOMA	-	-	-	-	GLTSCR1L	uc003osp.1,p.H875Y|NM_015349,p.H875Y|ENST00000394168,p.H875Y|ENST00000314073,p.H875Y|uc003osn.1,p.H875Y|uc011duw.1,p.H875Y	protein_coding	uc011duw.1	nonsynonymous SNV	exon12	c.C2623T	p.H875Y	DRAKTGVTEPMNHDQFHLVPNHIVV	DRAKTGVTEPMNYDQFHLVPNHIVV	6.0	9.0	-	-	3713_6:42832567-42832567 C>T_DRAKTGVTEPMNYDQFHLVPNHIVV
6:168352220-168352220 C>T	1.0	3713	MELANOMA	-	-	-	1	MLLT4	uc003qwc.2,p.P1389S|NM_001207008,p.P1372S|ENST00000392112,p.P1372S|uc021zij.1,p.P1372S|uc003qwg.1,p.P698S|ENST00000447894,p.P1389S|ENST00000366806,p.P1389S|uc021zim.1,p.P935S|NM_001040000,p.P1389S|NM_001291964,p.P1348S|ENST00000392108,p.P1389S|ENST00000344191,p.P1389S|uc003qwb.1,p.P1373S|ENST00000400822,p.P1388S|ENST00000351017,p.P1396S|uc021zik.1,p.P1348S	retained_intron, protein_coding, processed_transcript	uc021zim.1	nonsynonymous SNV	exon22	c.C2803T	p.P935S	GDFDGMSMDLPLPPPPSANQIGLPS	GDFDGMSMDLPLSPPPSANQIGLPS	7.0	9.0	unscreened	-	3713_6:168352220-168352220 C>T_GDFDGMSMDLPLSPPPSANQIGLPS
1:144823176-144823176 C>A	1.0	3713	MELANOMA	-	-	-	-	NBPF8,NBPF9	uc010oxo.2,p.P617H	protein_coding, processed_transcript	uc010oxo.2	nonsynonymous SNV	exon13	c.C1850A	p.P617H	DQVKKEDQEATGPRLSRELLDEKEP	DQVKKEDQEATGHRLSRELLDEKEP	8.0	1.0	unscreened	-	3713_1:144823176-144823176 C>A_DQVKKEDQEATGHRLSRELLDEKEP
3:46450075-46450075 G>A	1.0	3713	MELANOMA	-	-	-	-	CCRL2	uc010hjf.3,p.V169I|ENST00000400882,p.V169I|ENST00000357392,p.V181I|NM_001130910,p.V181I|NM_003965,p.V169I|uc021wxc.1,p.V169I|uc003cpp.4,p.V169I|ENST00000400880,p.V169I|ENST00000399036,p.V169I|ENST00000433848,p.V169I|uc010hjg.3,p.V181I	protein_coding, processed_transcript	uc021wxc.1	nonsynonymous SNV	exon1	c.G505A	p.V169I	VTAILATLPEFVVYKPQMEDQKYKC	VTAILATLPEFVIYKPQMEDQKYKC	5.0	7.0	-	-	3713_3:46450075-46450075 G>A_VTAILATLPEFVIYKPQMEDQKYKC
1:144823176-144823176 C>A	1.0	3713	MELANOMA	-	-	-	-	NBPF8,NBPF9	ENST00000281815,p.P44H|uc021ouf.1,p.P277H|uc010oye.3,p.P418H|ENST00000440491,p.P359H|ENST00000338347,p.P359H	protein_coding, processed_transcript	uc021ouf.1	nonsynonymous SNV	exon8	c.C830A	p.P277H	DQVKKEDQEATGPRLSRELLDEKGP	DQVKKEDQEATGHRLSRELLDEKGP	8.0	1.0	unscreened	-	3713_1:144823176-144823176 C>A_DQVKKEDQEATGHRLSRELLDEKGP
10:135183484-135183484 G>A	1.0	3713	MELANOMA	-	-	-	-	ECHS1	uc001lmu.3,p.S113F|NM_004092,p.S113F|ENST00000368547,p.S113F	protein_coding	uc001lmu.3	nonsynonymous SNV	exon3	c.C338T	p.S113F	KEMQNLSFQDCYSSKFLKHWDHLTQ	KEMQNLSFQDCYFSKFLKHWDHLTQ	6.0	2.0	-	-	3713_10:135183484-135183484 G>A_KEMQNLSFQDCYFSKFLKHWDHLTQ
4:126242404-126242404 C>T	1.0	3713	MELANOMA	-	-	-	1	FAT4	ENST00000394329,p.S1613L|NM_024582,p.S1613L|NM_001291303,p.S1613L|NM_001291285,p.S1613L|uc003ifj.4,p.S1613L	retained_intron, protein_coding	uc003ifj.4	nonsynonymous SNV	exon1	c.C4838T	p.S1613L	VSATDLGPERRKSTTELTIILQGLD	VSATDLGPERRKLTTELTIILQGLD	1.0	6.0	unscreened	-	3713_4:126242404-126242404 C>T_VSATDLGPERRKLTTELTIILQGLD
2:21229058-21229058 G>A	0.0	3713	MELANOMA	-	-	-	-	APOB	NM_000384,p.S3561F|uc002red.3,p.S3561F|ENST00000233242,p.S3561F	protein_coding	uc002red.3	nonsynonymous SNV	exon26	c.C10682T	p.S3561F	NFAGEATLQRIYSLWEHSTKNHLQL	NFAGEATLQRIYFLWEHSTKNHLQL	1.0	8.0	unscreened	-	3713_2:21229058-21229058 G>A_NFAGEATLQRIYFLWEHSTKNHLQL
2:234545680-234545680 G>A	1.0	3713	MELANOMA	-	-	-	-	UGT1A10	uc002vuq.3,p.G171E|ENST00000344644,p.G171E|uc002vur.3,p.G171E|ENST00000373445,p.G171E|NM_019075,p.G171E	protein_coding	uc002vur.3	nonsynonymous SNV	exon1	c.G512A	p.G171E	KYFSLPSVVFTRGIFCHHLEEGAQC	KYFSLPSVVFTREIFCHHLEEGAQC	1.0	5.0	unscreened	-	3713_2:234545680-234545680 G>A_KYFSLPSVVFTREIFCHHLEEGAQC
1:153995694-153995694 G>A	0.0	3713	MELANOMA	-	-	-	-	NUP210L	uc009woq.3,p.P310L|NM_001159484,p.P1401L|ENST00000368553,p.P334L|uc001fdw.3,p.P1401L|NM_207308,p.P1401L|ENST00000271854,p.P1401L|uc010peh.2,p.P1401L|ENST00000368559,p.P1401L	protein_coding	uc010peh.2	nonsynonymous SNV	exon31	c.C4202T	p.P1401L	LYTAQGRTLSAFPLGMSLTFTVQFY	LYTAQGRTLSAFLLGMSLTFTVQFY	1.0	1.0	unscreened	-	3713_1:153995694-153995694 G>A_LYTAQGRTLSAFLLGMSLTFTVQFY
X:17744190-17744190 C>T	1.0	3713	MELANOMA	-	-	-	-	NHS	NM_198270,p.P634L|uc004cxz.3,p.P457L|uc004cxy.3,p.P478L|ENST00000398097,p.P478L|uc004cya.3,p.P357L|NM_001136024,p.P478L|NM_001291867,p.P655L|NM_001291868,p.P457L|uc004cxx.3,p.P634L|ENST00000380060,p.P634L|uc011mix.2,p.P655L	protein_coding, processed_transcript	uc011mix.2	nonsynonymous SNV	exon7	c.C1964T	p.P655L	SQTSETIPPAASPPLTGSSHCDSEL	SQTSETIPPAASLPLTGSSHCDSEL	2.0	6.0	unscreened	-	3713_X:17744190-17744190 C>T_SQTSETIPPAASLPLTGSSHCDSEL
8:30694682-30694682 G>A	0.0	3713	MELANOMA	-	-	-	-	TEX15	uc003xil.3,p.P2657S|NM_031271,p.P2657S|ENST00000256246,p.P2657S	protein_coding, processed_transcript	uc003xil.3	nonsynonymous SNV	exon3	c.C7969T	p.P2657S	YNSSEHLFGTSYPYSAWCVYQYSNS	YNSSEHLFGTSYSYSAWCVYQYSNS	1.0	9.0	unscreened	-	3713_8:30694682-30694682 G>A_YNSSEHLFGTSYSYSAWCVYQYSNS
12:49434955-49434955 G>A	1.0	3713	MELANOMA	-	-	-	1	KMT2D	uc001rta.4,p.P2200S|NM_003482,p.P2200S|ENST00000301067,p.P2200S	retained_intron, protein_coding, processed_transcript	uc001rta.4	nonsynonymous SNV	exon31	c.C6598T	p.P2200S	RFPTAPPTYPPYPSPTGAPAQPPML	RFPTAPPTYPPYSSPTGAPAQPPML	9.0	6.0	unscreened	-	3713_12:49434955-49434955 G>A_RFPTAPPTYPPYSSPTGAPAQPPML
12:7528385-7528385 C>T	1.0	3713	MELANOMA	-	-	-	-	CD163L1	uc010sge.2,p.G876E|ENST00000396630,p.G866E|ENST00000416109,p.G876E|ENST00000313599,p.G866E|uc001qsy.3,p.G866E|NM_174941,p.G866E|NM_001297650,p.G876E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sge.2	nonsynonymous SNV	exon10	c.G2627A	p.G876E	NGLTWAEKFQCEGSETHLALCPIVQ	NGLTWAEKFQCEESETHLALCPIVQ	1.0	6.0	unscreened	-	3713_12:7528385-7528385 C>T_NGLTWAEKFQCEESETHLALCPIVQ
5:149676950-149676950 G>A	1.0	3713	MELANOMA	-	-	-	-	ARSI	ENST00000328668,p.P513S|NM_001012301,p.P513S|uc003lrv.2,p.P513S|ENST00000515301,p.P370S	protein_coding	uc003lrv.2	nonsynonymous SNV	exon2	c.C1537T	p.P513S	PVRYPAENPRAHPDFNGGAWGPWAS	PVRYPAENPRAHSDFNGGAWGPWAS	5.0	5.0	unscreened	-	3713_5:149676950-149676950 G>A_PVRYPAENPRAHSDFNGGAWGPWAS
3:25805745-25805745 G>A	1.0	3713	MELANOMA	-	-	ID=COSM184002,COSM3592120;OCCURENCE=2(large_intestine)	-	NGLY1	ENST00000428257,p.R102C|uc003cdm.3,p.R102C|NM_001145295,p.R102C|NM_018297,p.R102C|ENST00000427041,p.R25C|ENST00000417874,p.R60C|ENST00000396649,p.R102C|ENST00000280700,p.R102C|ENST00000422724,p.R25C|uc011awo.2,p.R60C|NM_001145294,p.R60C|uc010hfg.3,p.R102C|uc003cdl.3,p.R102C|NM_001145293,p.R102C|ENST00000308710,p.R99C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011awo.2	nonsynonymous SNV	exon3	c.C178T	p.R60C	PKKASVEQLQKIRDLIAIERSSRLD	PKKASVEQLQKICDLIAIERSSRLD	7.0	2.0	-	-	3713_3:25805745-25805745 G>A_PKKASVEQLQKICDLIAIERSSRLD
3:10261382-10261382 C>T	1.0	3713	MELANOMA	-	-	-	-	IRAK2	NM_001570,p.P308S|uc003bve.1,p.P308S|ENST00000256458,p.P308S	protein_coding	uc003bve.1	nonsynonymous SNV	exon8	c.C922T	p.P308S	DRLQGQGGSDPLPWPQRVSICSGLL	DRLQGQGGSDPLSWPQRVSICSGLL	3.0	2.0	unscreened	-	3713_3:10261382-10261382 C>T_DRLQGQGGSDPLSWPQRVSICSGLL
17:21207862-21207862 G>A	0.0	3713	MELANOMA	-	-	-	-	MAP2K3	ENST00000361818,p.M202I|uc021tsq.1,p.M202I|ENST00000316920,p.M202I|uc002gys.3,p.M231I|NM_145109,p.M231I|ENST00000342679,p.M231I|uc021tsr.1,p.M202I|uc002gyt.3,p.M202I|NM_002756,p.M202I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tsr.1	nonsynonymous SNV	exon9	c.G606A	p.M202I	VAKTMDAGCKPYMAPERINPELNQK	VAKTMDAGCKPYIAPERINPELNQK	6.0	4.0	-	-	3713_17:21207862-21207862 G>A_VAKTMDAGCKPYIAPERINPELNQK
2:95847301-95847301 C>T	1.0	3713	MELANOMA	-	-	-	-	ZNF2	ENST00000453539,p.S256L|ENST00000340539,p.S243L|ENST00000425369,p.S163L|ENST00000398107,p.S201L|ENST00000295210,p.S205L|uc010fhs.3,p.S163L|uc010yue.2,p.S205L	protein_coding	uc010yue.2	nonsynonymous SNV	exon4	c.C614T	p.S205L	ECSVCSKAFFDRSSLTVHQRIHTGE	ECSVCSKAFFDRLSLTVHQRIHTGE	3.0	10.0	unscreened	-	3713_2:95847301-95847301 C>T_ECSVCSKAFFDRLSLTVHQRIHTGE
12:7632572-7632572 C>T	0.0	3713	MELANOMA	-	-	-	-	CD163	uc001qsz.3,p.D1122N|NM_004244,p.D1122N|ENST00000359156,p.D1122N	retained_intron, protein_coding, processed_transcript	uc001qsz.3	nonsynonymous SNV	exon16	c.G3364A	p.D1122N	LMNSSENSHESADFSAAELISVSKF	LMNSSENSHESANFSAAELISVSKF	10.0	6.0	unscreened	-	3713_12:7632572-7632572 C>T_LMNSSENSHESANFSAAELISVSKF
18:8819100-8819100 C>T	1.0	3713	MELANOMA	-	-	-	-	MTCL1	ENST00000359865,p.S1000F|ENST00000306285,p.S325F|NM_015210,p.S1000F|ENST00000517570,p.S959F|uc002kns.2,p.S340F|ENST00000306329,p.S1319F|ENST00000518815,p.S325F|uc002knr.2,p.S1000F|ENST00000400050,p.S959F|uc002knq.2,p.S959F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kns.2	nonsynonymous SNV	exon7	c.C1019T	p.S340F	RPVAMWPCADADSIPFEDRPLSKLK	RPVAMWPCADADFIPFEDRPLSKLK	6.0	6.0	unscreened	-	3713_18:8819100-8819100 C>T_RPVAMWPCADADFIPFEDRPLSKLK
2:24056859-24056859 G>A	1.0	3713	MELANOMA	-	-	-	-	ATAD2B	NM_017552,p.S553F|uc002rek.4,p.S553F|NM_001242338,p.S553F|uc002rei.4,p.S553F|ENST00000238789,p.S553F	retained_intron, protein_coding, processed_transcript	uc002rek.4	nonsynonymous SNV	exon14	c.C1658T	p.S553F	EIVVIGATNRLDSIDPALRRPGRFD	EIVVIGATNRLDFIDPALRRPGRFD	5.0	5.0	unscreened	-	3713_2:24056859-24056859 G>A_EIVVIGATNRLDFIDPALRRPGRFD
1:247024356-247024356 G>A	1.0	3713	MELANOMA	-	-	-	-	AHCTF1	uc001ibv.2,p.S1335L|NM_015446,p.S1335L|ENST00000326225,p.S1335L|ENST00000391829,p.S1326L|uc009xgs.1,p.S187L|ENST00000366508,p.S1361L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009xgs.1	nonsynonymous SNV	exon20	c.C560T	p.S187L	SDETTLEYQDAPSPEDLEETVFTAS	SDETTLEYQDAPLPEDLEETVFTAS	8.0	4.0	-	-	3713_1:247024356-247024356 G>A_SDETTLEYQDAPLPEDLEETVFTAS
3:190030743-190030743 C>T	1.0	3713	MELANOMA	-	-	ID=COSM1161455;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	CLDN1	uc003fsh.3,p.M102I|NM_021101,p.M102I|ENST00000295522,p.M102I	retained_intron, protein_coding	uc003fsh.3	nonsynonymous SNV	exon2	c.G306A	p.M102I	LGVIAIFVATVGMKCMKCLEDDEVQ	LGVIAIFVATVGIKCMKCLEDDEVQ	5.0	2.0	unscreened	-	3713_3:190030743-190030743 C>T_LGVIAIFVATVGIKCMKCLEDDEVQ
7:95216405-95216405 G>A	1.0	3713	MELANOMA	-	-	-	-	PDK4	uc003uoa.3,p.R338C|uc003unz.3,p.R126C|ENST00000005178,p.R338C|NM_002612,p.R338C	retained_intron, protein_coding	uc003uoa.3	nonsynonymous SNV	exon10	c.C1012T	p.R338C	PLAGFGYGLPISRLYAKYFQGDLNL	PLAGFGYGLPISCLYAKYFQGDLNL	4.0	2.0	unscreened	-	3713_7:95216405-95216405 G>A_PLAGFGYGLPISCLYAKYFQGDLNL
6:32411073-32411073 T>C	1.0	3713	MELANOMA	-	-	-	-	HLA-DRA	uc003obh.3,p.L147P|ENST00000374982,p.L122P|NM_019111,p.L147P|ENST00000395388,p.L147P|uc003obi.3,p.L122P	protein_coding, processed_transcript	uc003obi.3	nonsynonymous SNV	exon3	c.T365C	p.L122P	DKFTPPVVNVTWLRNGKPVTTGVSE	DKFTPPVVNVTWPRNGKPVTTGVSE	10.0	3.0	-	-	3713_6:32411073-32411073 T>C_DKFTPPVVNVTWPRNGKPVTTGVSE
12:7632572-7632572 C>T	0.0	3713	MELANOMA	-	-	-	-	CD163	ENST00000542280,p.D90N	retained_intron, protein_coding, processed_transcript	ENST00000542280	nonsynonymous SNV	exon3	c.G268A	p.D90N	QKATTENSHESADFSAAELISVSKF	QKATTENSHESANFSAAELISVSKF	10.0	6.0	unscreened	-	3713_12:7632572-7632572 C>T_QKATTENSHESANFSAAELISVSKF
13:99061619-99061619 C>T	0.0	3713	MELANOMA	-	-	-	-	FARP1	uc001vnh.3,p.S481F|ENST00000376586,p.S481F|uc001vnj.3,p.S481F|ENST00000319562,p.S481F|NM_001286839,p.S481F|NM_005766,p.S481F|ENST00000595437,p.S481F	retained_intron, protein_coding, processed_transcript	uc001vnj.3	nonsynonymous SNV	exon14	c.C1442T	p.S481F	PSTGSLTGSPHLSELSVNSQGGVAP	PSTGSLTGSPHLFELSVNSQGGVAP	6.0	4.0	unscreened	-	3713_13:99061619-99061619 C>T_PSTGSLTGSPHLFELSVNSQGGVAP
12:38714839-38714839 C>T	1.0	3713	MELANOMA	-	-	-	-	ALG10B	ENST00000308742,p.R416C|uc001rln.4,p.R416C|NM_001013620,p.R416C	retained_intron, protein_coding, nonsense_mediated_decay	uc001rln.4	nonsynonymous SNV	exon3	c.C1246T	p.R416C	FIVIVPQKLLEFRYFILPYVIYRLN	FIVIVPQKLLEFCYFILPYVIYRLN	3.0	6.0	unscreened	-	3713_12:38714839-38714839 C>T_FIVIVPQKLLEFCYFILPYVIYRLN
14:53223324-53223324 C>T	1.0	3713	MELANOMA	-	-	-	-	STYX	ENST00000354586,p.P100S|NM_001130701,p.P100S|NM_145251,p.P100S|uc001xaa.3,p.P100S|uc010tqy.2,p.P100S|ENST00000442123,p.P100S	protein_coding, processed_transcript	uc010tqy.2	nonsynonymous SNV	exon6	c.C298T	p.P100S	ADNPVENIIRFFPMTKEFIDGSLQM	ADNPVENIIRFFSMTKEFIDGSLQM	9.0	9.0	unscreened	-	3713_14:53223324-53223324 C>T_ADNPVENIIRFFSMTKEFIDGSLQM
8:63492149-63492149 C>T	1.0	3713	MELANOMA	-	-	-	-	NKAIN3	ENST00000524201,p.P36S|NM_173688,p.P36S|uc010lyq.1,p.P36S|ENST00000523211,p.P36S|ENST00000328472,p.P36S	protein_coding, processed_transcript	uc010lyq.1	nonsynonymous SNV	exon2	c.C106T	p.P36S	RQIFDFLGFQWAPILGNFLHIIVVI	RQIFDFLGFQWASILGNFLHIIVVI	1.0	3.0	unscreened	-	3713_8:63492149-63492149 C>T_RQIFDFLGFQWASILGNFLHIIVVI
11:58602296-58602296 G>A	1.0	3713	MELANOMA	-	-	-	-	GLYATL2	uc009ymq.3,p.S164L|uc001nnd.4,p.S164L|NM_145016,p.S164L|ENST00000532258,p.S164L|ENST00000287275,p.S164L	protein_coding, processed_transcript	uc009ymq.3	nonsynonymous SNV	exon7	c.C491T	p.S164L	FEVDDDNKEGNFSNMFLDASHAGLV	FEVDDDNKEGNFLNMFLDASHAGLV	1.0	8.0	unscreened	-	3713_11:58602296-58602296 G>A_FEVDDDNKEGNFLNMFLDASHAGLV
10:125780755-125780755 ->AA	0.0	3713	MELANOMA	-	-	-	-	CHST15	uc001lho.4,p.P455fs|uc010que.3,p.P455fs|ENST00000421115,p.P455fs|NM_001270765,p.P455fs|NM_014863,p.P455fs	protein_coding, processed_transcript	uc010que.3	frameshift insertion	exon6	c.1363_1364insTT	p.P455fs	TLNNAMPVCTPPPRTPRAGPWQKEL	TLNNAMPVCTPPLPVPPELAPGRRSWFVVIMQAALWVCVSA	6.0	2.0	unscreened	-	3713_10:125780755-125780755 ->AA_TLNNAMPVCTPPLPVPPELAPGRRSWFVVIMQAALWVCVSA
19:48254780-48254780 C>T	1.0	3713	MELANOMA	-	-	-	-	GLTSCR2	NM_015710,p.P201L|ENST00000597985,p.P82L|uc002phm.2,p.P201L|ENST00000246802,p.P201L	retained_intron, protein_coding, processed_transcript	uc002phm.2	nonsynonymous SNV	exon5	c.C602T	p.P201L	ERPFYDLWASDNPLDRPLVGQDEFF	ERPFYDLWASDNLLDRPLVGQDEFF	10.0	10.0	-	-	3713_19:48254780-48254780 C>T_ERPFYDLWASDNLLDRPLVGQDEFF
7:82545661-82545661 G>A	1.0	3713	MELANOMA	-	-	-	-	PCLO	uc010lec.3,p.P846S|ENST00000423517,p.P3881S|ENST00000333891,p.P3881S|NM_014510,p.P3881S|uc003uhx.2,p.P3881S|NM_033026,p.P3881S|ENST00000437081,p.P601S|uc003uhv.2,p.P3881S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lec.3	nonsynonymous SNV	exon2	c.C2536T	p.P846S	PPQTQTESQLVPPTSPYTQYQYSSP	PPQTQTESQLVPSTSPYTQYQYSSP	2.0	2.0	unscreened	-	3713_7:82545661-82545661 G>A_PPQTQTESQLVPSTSPYTQYQYSSP
20:44519228-44519228 G>A	1.0	3713	MELANOMA	-	-	-	-	NEURL2	NM_080749,p.P135S|NM_001278535,p.P135S|uc002xqg.2,p.P135S|ENST00000372518,p.P135S	protein_coding	uc002xqg.2	nonsynonymous SNV	exon1	c.C403T	p.P135S	PREGRPEAEAAAPSRPPTLLVEPYL	PREGRPEAEAAASSRPPTLLVEPYL	4.0	8.0	-	-	3713_20:44519228-44519228 G>A_PREGRPEAEAAASSRPPTLLVEPYL
X:153006137-153006137 G>A	0.0	3713	MELANOMA	-	-	-	-	ABCD1	uc004fif.2,p.V582I|ENST00000218104,p.V582I|NM_000033,p.V582I	protein_coding	uc004fif.2	nonsynonymous SNV	exon7	c.G1744A	p.V582I	GYSEQDLEAILDVVHLHHILQREGG	GYSEQDLEAILDIVHLHHILQREGG	6.0	1.0	unscreened	-	3713_X:153006137-153006137 G>A_GYSEQDLEAILDIVHLHHILQREGG
15:48766550-48766550 G>T	1.0	3713	MELANOMA	-	-	-	-	FBN1	ENST00000537463,p.P262T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000537463	nonsynonymous SNV	exon9	c.C784A	p.P262T	LSALIWTNVPMEPICAASMQTARIP	LSALIWTNVPMETICAASMQTARIP	3.0	10.0	unscreened	-	3713_15:48766550-48766550 G>T_LSALIWTNVPMETICAASMQTARIP
13:108861080-108861080 C>T	1.0	3713	MELANOMA	-	-	-	-	LIG4	ENST00000356922,p.R846Q|uc001vqp.3,p.R846Q|NM_002312,p.R846Q|NM_001098268,p.R846Q|ENST00000405925,p.R846Q|uc001vqn.3,p.R846Q|uc021rmk.1,p.R846Q|uc001vqo.3,p.R846Q|uc010agg.1,p.R779Q|NM_206937,p.R846Q|uc010agf.3,p.R846Q|ENST00000442234,p.R846Q	protein_coding	uc021rmk.1	nonsynonymous SNV	exon1	c.G2537A	p.R846Q	EGTRLAIKALELRFHGAKVVSCLAE	EGTRLAIKALELQFHGAKVVSCLAE	6.0	8.0	unscreened	-	3713_13:108861080-108861080 C>T_EGTRLAIKALELQFHGAKVVSCLAE
14:45645531-45645531 G>T	1.0	3713	MELANOMA	-	-	-	-	FANCM	uc001wwe.4,p.D728Y|ENST00000542564,p.D1166Y|ENST00000267430,p.D1192Y|ENST00000556250,p.D708Y|NM_020937,p.D1192Y|uc001wwd.4,p.D1192Y|uc010anf.3,p.D1166Y|uc010ang.3,p.D406Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ang.3	nonsynonymous SNV	exon1	c.G1216T	p.D406Y	DELLLDNNSELQDQITRDANSFKSR	DELLLDNNSELQYQITRDANSFKSR	4.0	2.0	unscreened	-	3713_14:45645531-45645531 G>T_DELLLDNNSELQYQITRDANSFKSR
1:248616859-248616859 G>A	0.0	3713	MELANOMA	-	-	-	-	OR2T2	NM_001004136,p.G254E|uc001iek.1,p.G254E|ENST00000342927,p.G254E	protein_coding	uc001iek.1	nonsynonymous SNV	exon1	c.G761A	p.G254E	CSSHIMVVSVFYGAAFYTNVLPHSY	CSSHIMVVSVFYEAAFYTNVLPHSY	1.0	1.0	unscreened	-	3713_1:248616859-248616859 G>A_CSSHIMVVSVFYEAAFYTNVLPHSY
7:142575768-142575768 G>A	0.0	3713	MELANOMA	-	-	-	-	TRPV6	NM_018646,p.S47F|ENST00000359396,p.S47F|uc003wbx.2,p.S47F	retained_intron, protein_coding	uc003wbx.2	nonsynonymous SNV	exon2	c.C140T	p.S47F	EQNLLQQKRIWESPLLLAAKDNDVQ	EQNLLQQKRIWEFPLLLAAKDNDVQ	1.0	7.0	unscreened	-	3713_7:142575768-142575768 G>A_EQNLLQQKRIWEFPLLLAAKDNDVQ
12:68646321-68646321 G>A	0.0	3713	MELANOMA	-	-	-	-	IL22	ENST00000328087,p.P120L|NM_020525,p.P120L|uc001sty.1,p.P120L|uc010stb.1,p.P120L|ENST00000538666,p.P120L	protein_coding	uc010stb.1	nonsynonymous SNV	exon4	c.C359T	p.P120L	SDRFQPYMQEVVPFLARLSNRLSTC	SDRFQPYMQEVVLFLARLSNRLSTC	1.0	6.0	unscreened	-	3713_12:68646321-68646321 G>A_SDRFQPYMQEVVLFLARLSNRLSTC
1:36031058-36031058 C>T	1.0	3713	MELANOMA	-	-	-	-	NCDN	ENST00000373253,p.R645C|ENST00000356090,p.R662C|NM_001014839,p.R662C|NM_001014841,p.R645C|NM_014284,p.R662C|ENST00000373243,p.R662C|uc001bzb.3,p.R662C|uc001bza.3,p.R662C|uc001bzc.3,p.R645C	protein_coding, processed_transcript	uc001bzc.3	nonsynonymous SNV	exon7	c.C1933T	p.R645C	LLPWLAPAALRSRWPQELLQLLGSV	LLPWLAPAALRSCWPQELLQLLGSV	9.0	7.0	-	-	3713_1:36031058-36031058 C>T_LLPWLAPAALRSCWPQELLQLLGSV
18:6955379-6955379 G>C	1.0	3713	MELANOMA	-	-	-	-	LAMA1	uc002knk.3,p.P57R|uc010wzj.2,p.P2203R|uc002knm.3,p.P2727R|ENST00000389658,p.P2727R|NM_005559,p.P2727R|uc002knl.3,p.P180R	retained_intron, protein_coding	uc010wzj.2	nonsynonymous SNV	exon56	c.C6608G	p.P2203R	QFGLTQNSHFILPFNQSAVRKKLSV	QFGLTQNSHFILRFNQSAVRKKLSV	8.0	6.0	unscreened	-	3713_18:6955379-6955379 G>C_QFGLTQNSHFILRFNQSAVRKKLSV
2:220331959-220331959 G>A	1.0	3713	MELANOMA	-	-	-	-	SPEG	uc010fwg.3,p.G982E|NM_005876,p.G982E|ENST00000312358,p.G982E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fwg.3	nonsynonymous SNV	exon10	c.G2945A	p.G982E	VLAPLQDVDVGAGEMALFECLVAGP	VLAPLQDVDVGAEEMALFECLVAGP	1.0	9.0	-	-	3713_2:220331959-220331959 G>A_VLAPLQDVDVGAEEMALFECLVAGP
1:200948729-200948729 G>A	1.0	3713	MELANOMA	-	-	-	-	KIF21B	ENST00000461742,p.S1365F|ENST00000422435,p.S1365F|uc009wzl.2,p.S1365F|uc001gvr.2,p.S1352F|NM_017596,p.S1352F|uc010ppn.2,p.S1352F|NM_001252100,p.S1365F|NM_001252102,p.S1365F|ENST00000360529,p.S1352F|ENST00000332129,p.S1352F|uc001gvs.2,p.S1365F|NM_001252103,p.S1352F	retained_intron, protein_coding, nonsense_mediated_decay	uc010ppn.2	nonsynonymous SNV	exon29	c.C4055T	p.S1352F	SIKYCSHSGLVFSVSTSYIKVWDIR	SIKYCSHSGLVFFVSTSYIKVWDIR	4.0	8.0	unscreened	-	3713_1:200948729-200948729 G>A_SIKYCSHSGLVFFVSTSYIKVWDIR
5:80074621-80074621 C>T	1.0	3713	MELANOMA	-	-	-	-	MSH3	ENST00000265081,p.L801F|uc003kgz.4,p.L801F|NM_002439,p.L801F	protein_coding, processed_transcript	uc003kgz.4	nonsynonymous SNV	exon17	c.C2401T	p.L801F	YRHLNQLREQLVLDCSAEWLDFLEK	YRHLNQLREQLVFDCSAEWLDFLEK	4.0	8.0	unscreened	-	3713_5:80074621-80074621 C>T_YRHLNQLREQLVFDCSAEWLDFLEK
16:70867926-70867926 G>A	0.0	3713	MELANOMA	-	-	-	-	HYDIN	ENST00000393567,p.L4515F|NM_001270974,p.L4515F|uc031qwy.1,p.L4515F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon79	c.C13543T	p.L4515F	EVFMECMGLLRPLFLLSGCCQALEI	EVFMECMGLLRPFFLLSGCCQALEI	1.0	2.0	unscreened	-	3713_16:70867926-70867926 G>A_EVFMECMGLLRPFFLLSGCCQALEI
4:10446935-10446935 G>A	0.0	3713	MELANOMA	-	-	-	-	ZNF518B	NM_053042,p.P340S|uc021xme.1,p.P340S|ENST00000326756,p.P340S|uc003gmn.3,p.P340S	retained_intron, protein_coding, processed_transcript	uc021xme.1	nonsynonymous SNV	exon1	c.C1018T	p.P340S	PLTVVAPAELVVPANCLAQLIDVKV	PLTVVAPAELVVSANCLAQLIDVKV	6.0	7.0	unscreened	-	3713_4:10446935-10446935 G>A_PLTVVAPAELVVSANCLAQLIDVKV
11:606576-606576 C>T	1.0	3713	MELANOMA	-	-	-	-	PHRF1	uc010qwd.2,p.S528F|ENST00000416188,p.S529F|NM_001286583,p.S526F|uc010qwe.2,p.S526F|ENST00000534320,p.S530F|NM_001286582,p.S528F|ENST00000413872,p.S528F|uc010qwc.2,p.S529F|NM_001286581,p.S530F|ENST00000533464,p.S526F|ENST00000264555,p.S530F|NM_020901,p.S529F|uc001lqe.3,p.S530F|uc009ybz.1,p.S320F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qwe.2	nonsynonymous SNV	exon13	c.C1577T	p.S526F	LGSSDVIIHRDGSLSAKRAAPVSFQ	LGSSDVIIHRDGFLSAKRAAPVSFQ	7.0	3.0	unscreened	-	3713_11:606576-606576 C>T_LGSSDVIIHRDGFLSAKRAAPVSFQ
5:115341655-115341655 C>T	0.0	3713	MELANOMA	-	-	-	-	AQPEP	ENST00000395528,p.S212F|ENST00000514509,p.S212F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000514509	nonsynonymous SNV	exon8	c.C635T	p.S212F	VIHRLQLIDDAFSLSNLQDFGHLKV	VIHRLQLIDDAFFLSNLQDFGHLKV	2.0	10.0	unscreened	-	3713_5:115341655-115341655 C>T_VIHRLQLIDDAFFLSNLQDFGHLKV
10:45799377-45799377 G>A	0.0	3713	MELANOMA	-	-	-	-	OR13A1	uc001jcd.1,p.A161V|uc001jcc.1,p.A165V|ENST00000536058,p.A165V|NM_001004297,p.A165V|uc021ppq.1,p.A165V|ENST00000374401,p.A165V|ENST00000553795,p.A165V	protein_coding	uc021ppq.1	nonsynonymous SNV	exon1	c.C494T	p.A165V	MMSKVFCSGLATAVWLLCAVNTAIH	MMSKVFCSGLATVVWLLCAVNTAIH	1.0	3.0	unscreened	-	3713_10:45799377-45799377 G>A_MMSKVFCSGLATVVWLLCAVNTAIH
11:46338999-46338999 G>A	1.0	3713	MELANOMA	-	-	-	1	CREB3L1	uc021qik.1,p.D407N|uc001ncg.3,p.D41N|NM_052854,p.D407N|uc021qil.1,p.D407N|ENST00000529193,p.D407N|ENST00000288400,p.D407N	retained_intron, protein_coding, processed_transcript	uc021qil.1	nonsynonymous SNV	exon10	c.G1219A	p.D407N	PEFSSGSQTVKEDPLAADGVYTASQ	PEFSSGSQTVKENPLAADGVYTASQ	1.0	2.0	-	-	3713_11:46338999-46338999 G>A_PEFSSGSQTVKENPLAADGVYTASQ
12:11091013-11091013 G>A	1.0	3713	MELANOMA	-	-	-	-	TAS2R14	uc001qzj.4,p.S124F|ENST00000537503,p.S265F|uc010shi.2,p.S265F|NM_023922,p.S265F	protein_coding, processed_transcript	uc010shi.2	nonsynonymous SNV	exon1	c.C794T	p.S265F	TSERLEENLIILSQVMGMAYPSCHS	TSERLEENLIILFQVMGMAYPSCHS	3.0	9.0	unscreened	-	3713_12:11091013-11091013 G>A_TSERLEENLIILFQVMGMAYPSCHS
3:155493606-155493606 G>A	1.0	3713	MELANOMA	-	-	-	-	C3orf33	uc003fal.1,p.P26L|uc003fam.1,p.P69L|NM_173657,p.P26L|ENST00000340171,p.P69L|ENST00000534941,p.P26L	protein_coding, nonsense_mediated_decay	uc003fam.1	nonsynonymous SNV	exon3	c.C206T	p.P69L	RLTSKFTSSSDIPVEFIRRNVKLRG	RLTSKFTSSSDILVEFIRRNVKLRG	3.0	5.0	unscreened	-	3713_3:155493606-155493606 G>A_RLTSKFTSSSDILVEFIRRNVKLRG
4:47538713-47538713 C>T	0.0	3713	MELANOMA	-	-	-	-	ATP10D	uc003gxk.1,p.P385L|ENST00000273859,p.P385L|NM_020453,p.P385L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gxk.1	nonsynonymous SNV	exon9	c.C1154T	p.P385L	FWTMIILLQVLIPISLYVSIEIVKL	FWTMIILLQVLILISLYVSIEIVKL	5.0	7.0	-	-	3713_4:47538713-47538713 C>T_FWTMIILLQVLILISLYVSIEIVKL
3:182759439-182759439 A>C	1.0	3713	MELANOMA	-	-	-	-	MCCC1	uc003fle.3,p.F395V|ENST00000539926,p.F260V|ENST00000497959,p.F357V|ENST00000476176,p.F348V|NM_001293273,p.F278V|ENST00000492597,p.F286V|uc003flf.3,p.F278V|uc011bqp.1,p.F348V|uc003flg.3,p.F286V|ENST00000265594,p.F395V|NM_020166,p.F395V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bqp.1	nonsynonymous SNV	exon10	c.T1042G	p.F348V	EARIYAEDPSNNFMPVAGPLVHLST	EARIYAEDPSNNVMPVAGPLVHLST	5.0	8.0	-	-	3713_3:182759439-182759439 A>C_EARIYAEDPSNNVMPVAGPLVHLST
2:138425419-138425419 C>T	0.0	3713	MELANOMA	-	-	-	-	THSD7B	ENST00000272643,p.S1579F|ENST00000413152,p.S1548F|ENST00000409968,p.S1576F	retained_intron, protein_coding, processed_transcript	ENST00000413152	nonsynonymous SNV	exon27	c.C4643T	p.S1548F	GAFLIMIFLIFTSYLVCKKPKPHQS	GAFLIMIFLIFTFYLVCKKPKPHQS	1.0	6.0	unscreened	-	3713_2:138425419-138425419 C>T_GAFLIMIFLIFTFYLVCKKPKPHQS
9:130566936-130566936 G>A	1.0	3713	MELANOMA	-	-	-	-	FPGS	uc011mal.1,p.E115K|ENST00000373245,p.E115K|NM_001288803,p.E115K|uc004bsi.1,p.E65K|NM_004957,p.E115K|ENST00000373247,p.E115K|NM_001018078,p.E65K|ENST00000431857,p.E65K|ENST00000423577,p.E65K|ENST00000373228,p.E115K|uc004bsg.1,p.E115K|ENST00000393706,p.E115K|ENST00000373225,p.E65K	protein_coding, processed_transcript	uc011mal.1	nonsynonymous SNV	exon4	c.G343A	p.E115K	GTKGKGSTCAFTECILRSYGLKTGF	GTKGKGSTCAFTKCILRSYGLKTGF	6.0	10.0	-	-	3713_9:130566936-130566936 G>A_GTKGKGSTCAFTKCILRSYGLKTGF
3:105377882-105377882 C>T	1.0	3713	MELANOMA	-	-	-	1	CBLB	uc003dwc.3,p.E961K|ENST00000264122,p.E961K|ENST00000407712,p.E176K|uc011bhi.2,p.E939K|ENST00000394027,p.E939K|NM_170662,p.E961K|uc003dwa.3,p.E176K|ENST00000394030,p.E300K	retained_intron, protein_coding	uc011bhi.2	nonsynonymous SNV	exon18	c.G2815A	p.E939K	VKRALEIAQNNVEVARSILREFAFP	VKRALEIAQNNVKVARSILREFAFP	8.0	3.0	-	-	3713_3:105377882-105377882 C>T_VKRALEIAQNNVKVARSILREFAFP
11:51515738-51515738 C>T	0.0	3713	MELANOMA	-	-	-	-	OR4C46	uc010ric.2,p.H153Y|NM_001004703,p.H153Y|ENST00000328188,p.H153Y	protein_coding	uc010ric.2	nonsynonymous SNV	exon1	c.C457T	p.H153Y	LLMGVVWMGGFLHATIQILFIFQLP	LLMGVVWMGGFLYATIQILFIFQLP	1.0	2.0	unscreened	-	3713_11:51515738-51515738 C>T_LLMGVVWMGGFLYATIQILFIFQLP
19:12243691-12243691 G>A	1.0	3713	MELANOMA	-	-	-	-	ZNF20	uc021upm.1,p.S434F|uc002mtf.2,p.S437F|uc002mtg.2,p.S437F|uc002mte.2,p.S402F|NM_001203250,p.S434F|NM_021143,p.S437F|ENST00000334213,p.S437F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021upm.1	nonsynonymous SNV	exon4	c.C1301T	p.S434F	CKQCGKAFRYFSSLHIHERTHTGDK	CKQCGKAFRYFSFLHIHERTHTGDK	2.0	10.0	unscreened	-	3713_19:12243691-12243691 G>A_CKQCGKAFRYFSFLHIHERTHTGDK
18:54398656-54398656 T>C	1.0	3713	MELANOMA	-	-	-	-	WDR7	uc002lgl.1,p.I606T|NM_015285,p.I606T|NM_052834,p.I606T|ENST00000590557,p.I27T|ENST00000254442,p.I606T|ENST00000357574,p.I606T|uc002lgk.1,p.I606T	retained_intron, protein_coding, nonsense_mediated_decay	uc002lgl.1	nonsynonymous SNV	exon14	c.T1817C	p.I606T	LDRCVMGITAVEILNACDEAVPAAV	LDRCVMGITAVETLNACDEAVPAAV	6.0	8.0	-	-	3713_18:54398656-54398656 T>C_LDRCVMGITAVETLNACDEAVPAAV
12:113758268-113758268 C>T	1.0	3713	MELANOMA	-	-	-	-	SLC8B1	ENST00000202831,p.G188S|uc001tvc.3,p.G188S|ENST00000552014,p.G188S|ENST00000549181,p.G188S|NM_024959,p.G188S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001tvc.3	nonsynonymous SNV	exon7	c.G562A	p.G188S	GAGVLVTTVVAGGITILHPFMAASR	GAGVLVTTVVAGSITILHPFMAASR	6.0	6.0	-	-	3713_12:113758268-113758268 C>T_GAGVLVTTVVAGSITILHPFMAASR
8:23429021-23429021 G>A	1.0	3713	MELANOMA	-	-	-	-	SLC25A37	uc003xdo.3,p.E224K|NM_016612,p.E224K|ENST00000519973,p.E224K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xdo.3	nonsynonymous SNV	exon4	c.G670A	p.E224K	QSIHFITYEFLQEQVNPHRTYNPQS	QSIHFITYEFLQKQVNPHRTYNPQS	9.0	10.0	-	-	3713_8:23429021-23429021 G>A_QSIHFITYEFLQKQVNPHRTYNPQS
20:1584470-1584470 G>A	1.0	3713	MELANOMA	-	-	-	-	SIRPB1	ENST00000279477,p.S357L|ENST00000568365,p.S357L|ENST00000565087,p.S36L|ENST00000566055,p.S36L|ENST00000569387,p.S36L|uc002wfl.4,p.S357L|ENST00000562014,p.S195L|NM_001135844,p.S357L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002wfl.4	nonsynonymous SNV	exon4	c.C1070T	p.S357L	DLKVSAHPKEQGSNTAPGPALASAA	DLKVSAHPKEQGLNTAPGPALASAA	7.0	10.0	-	-	3713_20:1584470-1584470 G>A_DLKVSAHPKEQGLNTAPGPALASAA
7:141854611-141854611 C>T	0.0	3713	MELANOMA	-	-	-	-	LOC93432	ENST00000477922,p.P630L|NM_001293626,p.P630L	retained_intron, protein_coding	NM_001293626	nonsynonymous SNV	exon17	c.C1889T	p.P630L	LCRRWMQLGAFYPLPRNHNGPGFRD	LCRRWMQLGAFYLLPRNHNGPGFRD	1.0	3.0	unscreened	-	3713_7:141854611-141854611 C>T_LCRRWMQLGAFYLLPRNHNGPGFRD
1:248801802-248801802 C>T	0.0	3713	MELANOMA	-	-	-	-	OR2T35	NM_001001827,p.G253E|uc001ies.1,p.G253E|ENST00000317450,p.G253E	protein_coding	uc001ies.1	nonsynonymous SNV	exon1	c.G758A	p.G253E	CSSHIMVVSVFYGAAFYTNVLPHSY	CSSHIMVVSVFYEAAFYTNVLPHSY	1.0	2.0	unscreened	-	3713_1:248801802-248801802 C>T_CSSHIMVVSVFYEAAFYTNVLPHSY
6:106649928-106649928 G>A	1.0	3713	MELANOMA	-	-	-	-	ATG5	uc031spi.1,p.R204C|ENST00000343245,p.R204C|NM_001286106,p.R204C|NM_001286107,p.R126C|uc003prf.3,p.R204C|uc003prg.3,p.R126C|ENST00000369070,p.R126C|ENST00000369076,p.R204C|NM_004849,p.R204C	protein_coding, processed_transcript	uc031spi.1	nonsynonymous SNV	exon7	c.C610T	p.R204C	TTTERPFIQKLFRPVAADGQLHTLG	TTTERPFIQKLFCPVAADGQLHTLG	5.0	6.0	-	-	3713_6:106649928-106649928 G>A_TTTERPFIQKLFCPVAADGQLHTLG
5:73207206-73207206 C>T	1.0	3713	MELANOMA	-	-	-	-	ARHGEF28	ENST00000426542,p.S1585L|uc003kda.4,p.S505L|ENST00000512883,p.S505L|ENST00000287898,p.S1541L|uc003kcz.4,p.S549L|ENST00000513042,p.S1585L|uc011csq.2,p.S1585L|ENST00000296794,p.S1585L|ENST00000296799,p.S1272L|NM_001177693,p.S1585L|NM_001080479,p.S1585L|uc010izf.3,p.S1585L|ENST00000545377,p.S1585L|NM_001244364,p.S1272L|uc011csr.2,p.S1272L|ENST00000437974,p.S1585L|uc021yam.1,p.S1585L	retained_intron, protein_coding, processed_transcript	uc021yam.1	nonsynonymous SNV	exon34	c.C4754T	p.S1585L	QMSFNTFNKLNPSVIHQDATYPTTQ	QMSFNTFNKLNPLVIHQDATYPTTQ	5.0	7.0	-	-	3713_5:73207206-73207206 C>T_QMSFNTFNKLNPLVIHQDATYPTTQ
20:3677752-3677752 G>A	0.0	3713	MELANOMA	-	-	-	-	SIGLEC1	uc002wiz.4,p.P787L|ENST00000202578,p.P787L|ENST00000344754,p.P787L|NM_023068,p.P787L|uc002wja.3,p.P787L	protein_coding	uc002wja.3	nonsynonymous SNV	exon9	c.C2360T	p.P787L	RILTEAGAQLSTPVLLSVLYPPDRP	RILTEAGAQLSTLVLLSVLYPPDRP	5.0	7.0	unscreened	-	3713_20:3677752-3677752 G>A_RILTEAGAQLSTLVLLSVLYPPDRP
11:128848781-128848781 G>A	1.0	3713	MELANOMA	-	-	-	-	ARHGAP32	uc009zcq.2,p.S615F|ENST00000310343,p.S655F|uc009zcp.3,p.S655F|NM_001142685,p.S655F|NM_014715,p.S306F|ENST00000524655,p.S581F|ENST00000527272,p.S306F|uc001qez.3,p.S306F|ENST00000392657,p.S306F	retained_intron, protein_coding	uc009zcq.2	nonsynonymous SNV	exon17	c.C1844T	p.S615F	LERKRPQNKMKKSPVGSWRSFFNLG	LERKRPQNKMKKFPVGSWRSFFNLG	5.0	8.0	unscreened	-	3713_11:128848781-128848781 G>A_LERKRPQNKMKKFPVGSWRSFFNLG
2:242009589-242009589 G>A	1.0	3713	MELANOMA	-	-	-	-	SNED1	ENST00000405547,p.E1188K|uc002wai.1,p.E423K|uc002wak.3,p.E275K|ENST00000342631,p.E1188K|NM_001080437,p.E1188K|ENST00000401884,p.E1188K|ENST00000310397,p.E1188K|uc002wah.1,p.E1188K|uc002waj.1,p.E275K	retained_intron, protein_coding, processed_transcript	uc002wak.3	nonsynonymous SNV	exon4	c.G823A	p.E275K	AVQSTELGPQHSEPAHLYIITSPRD	AVQSTELGPQHSKPAHLYIITSPRD	5.0	4.0	unscreened	-	3713_2:242009589-242009589 G>A_AVQSTELGPQHSKPAHLYIITSPRD
22:31521342-31521342 C>T	1.0	3713	MELANOMA	-	-	-	-	INPP5J	uc011alk.2,p.P139L|NM_001284285,p.P206L|uc010gwf.3,p.P206L|uc003aju.4,p.P206L|ENST00000331075,p.P206L|ENST00000412277,p.P139L|NM_001284286,p.P139L	retained_intron, protein_coding, processed_transcript	uc011alk.2	nonsynonymous SNV	exon3	c.C416T	p.P139L	QPPELPSTPSPVPSPVLSPTQEQAL	QPPELPSTPSPVLSPVLSPTQEQAL	4.0	2.0	unscreened	-	3713_22:31521342-31521342 C>T_QPPELPSTPSPVLSPVLSPTQEQAL
17:41245974-41245974 A>G	1.0	3713	MELANOMA	-	-	ID=COSM706223;OCCURENCE=1(lung)	1	BRCA1	ENST00000493795,p.V478A|ENST00000354071,p.V525A|uc010cyy.1,p.V525A|uc010cyz.2,p.V478A|NM_007297,p.V478A|ENST00000471181,p.V525A|uc010wht.1,p.V229A|uc002icp.4,p.V454A|ENST00000470026,p.V525A|uc002idd.3,p.V525A|NM_007294,p.V525A|uc010cyx.3,p.V478A|uc010whs.1,p.V525A|uc002ict.3,p.V525A|uc010cza.2,p.V499A|ENST00000357654,p.V525A|uc002ide.1,p.V356A|uc002icq.3,p.V525A|NM_007300,p.V525A|ENST00000346315,p.V525A|ENST00000309486,p.V229A|ENST00000477152,p.V499A	retained_intron, protein_coding, nonsense_mediated_decay, non_stop_decay	uc010wht.1	nonsynonymous SNV	exon2	c.T686C	p.V229A	HPEDFIKKADLAVQKTPEMINQGTN	HPEDFIKKADLAAQKTPEMINQGTN	8.0	3.0	-	-	3713_17:41245974-41245974 A>G_HPEDFIKKADLAAQKTPEMINQGTN
19:45899952-45899952 G>A	1.0	3713	MELANOMA	-	-	-	-	PPP1R13L	NM_001142502,p.P188L|uc002pbn.3,p.P188L|NM_006663,p.P188L|uc002pbo.3,p.P188L|ENST00000418234,p.P188L|ENST00000360957,p.P188L|uc002pbp.2,p.P188L	retained_intron, protein_coding	uc002pbp.2	nonsynonymous SNV	exon4	c.C563T	p.P188L	DFLGRAGSPRGSPLAEGPQAFFPER	DFLGRAGSPRGSLLAEGPQAFFPER	5.0	8.0	unscreened	-	3713_19:45899952-45899952 G>A_DFLGRAGSPRGSLLAEGPQAFFPER
10:124708280-124708280 G>A	1.0	3713	MELANOMA	-	-	-	-	C10orf88	uc001lgx.2,p.P80L|ENST00000481909,p.P178L|NM_024942,p.P178L|uc001lgw.2,p.P178L	protein_coding, processed_transcript	uc001lgx.2	nonsynonymous SNV	exon4	c.C239T	p.P80L	MRSVFANSSTSSPALGSRIDLDKVQ	MRSVFANSSTSSLALGSRIDLDKVQ	3.0	9.0	unscreened	-	3713_10:124708280-124708280 G>A_MRSVFANSSTSSLALGSRIDLDKVQ
4:56762946-56762946 C>T	1.0	3713	MELANOMA	-	-	-	-	EXOC1	ENST00000346134,p.P673S|ENST00000349598,p.P658S|uc003hbe.1,p.P673S|NM_018261,p.P673S|uc003hbf.1,p.P673S|NM_178237,p.P658S|ENST00000381295,p.P673S|NM_001024924,p.P673S|uc003hbg.1,p.P658S	retained_intron, protein_coding	uc003hbg.1	nonsynonymous SNV	exon15	c.C1972T	p.P658S	VKISKKSKVGILPFVAEFEEFAGLA	VKISKKSKVGILSFVAEFEEFAGLA	6.0	8.0	-	-	3713_4:56762946-56762946 C>T_VKISKKSKVGILSFVAEFEEFAGLA
13:77570260-77570260 C>T	1.0	3713	MELANOMA	-	-	-	-	CLN5	uc001vkc.3,p.S237L|ENST00000377453,p.S237L|NM_006493,p.S237L	protein_coding, processed_transcript	uc001vkc.3	nonsynonymous SNV	exon3	c.C710T	p.S237L	KENGTLVQVATISGNMFNQMAKWVK	KENGTLVQVATILGNMFNQMAKWVK	8.0	8.0	-	-	3713_13:77570260-77570260 C>T_KENGTLVQVATILGNMFNQMAKWVK
5:41033174-41033174 G>A	0.0	3713	MELANOMA	-	-	-	-	MROH2B	uc003jmi.4,p.S332F|NM_173489,p.S777F|ENST00000399564,p.S777F|uc003jmj.4,p.S777F|ENST00000506092,p.S332F	retained_intron, protein_coding	uc003jmj.4	nonsynonymous SNV	exon23	c.C2330T	p.S777F	AVQDAEDQGFQFSYKEMLIGYMLDF	AVQDAEDQGFQFFYKEMLIGYMLDF	1.0	10.0	unscreened	-	3713_5:41033174-41033174 G>A_AVQDAEDQGFQFFYKEMLIGYMLDF
6:35604865-35604865 C>T	1.0	3713	MELANOMA	-	-	-	-	FKBP5	NM_001145776,p.G59E|NM_001145775,p.G59E|ENST00000542713,p.G59E|ENST00000357266,p.G59E|uc003oky.2,p.G59E|NM_004117,p.G59E|uc011dte.1,p.G59E|uc003okz.2,p.G59E|ENST00000536438,p.G59E|NM_001145777,p.G59E|uc003okx.2,p.G59E|ENST00000539068,p.G59E	protein_coding	uc011dte.1	nonsynonymous SNV	exon3	c.G176A	p.G59E	PMIGDKVYVHYKGKLSNGKKFDSSH	PMIGDKVYVHYKEKLSNGKKFDSSH	10.0	8.0	-	-	3713_6:35604865-35604865 C>T_PMIGDKVYVHYKEKLSNGKKFDSSH
6:24503524-24503524 C>T	0.0	3713	MELANOMA	-	-	-	-	ALDH5A1	ENST00000491546,p.L130F	retained_intron, protein_coding	ENST00000491546	nonsynonymous SNV	exon2	c.C388T	p.L130F	KGKPLKEAHGEILYSAFFLEWFSEE	KGKPLKEAHGEIFYSAFFLEWFSEE	2.0	8.0	unscreened	-	3713_6:24503524-24503524 C>T_KGKPLKEAHGEIFYSAFFLEWFSEE
6:24503524-24503524 C>T	0.0	3713	MELANOMA	-	-	-	-	ALDH5A1	uc003neg.3,p.L158F|uc003nef.3,p.L158F|NM_170740,p.L158F|ENST00000357578,p.L158F|ENST00000546278,p.L70F|ENST00000348925,p.L158F|NM_001080,p.L158F	retained_intron, protein_coding	uc003neg.3	nonsynonymous SNV	exon3	c.C472T	p.L158F	SGKPLKEAHGEILYSAFFLEWFSEE	SGKPLKEAHGEIFYSAFFLEWFSEE	2.0	8.0	unscreened	-	3713_6:24503524-24503524 C>T_SGKPLKEAHGEIFYSAFFLEWFSEE
3:48629387-48629387 G>A	1.0	3713	MELANOMA	-	-	-	-	COL7A1	NM_000094,p.S434F|ENST00000454817,p.S434F|ENST00000328333,p.S434F|uc003ctz.2,p.S434F	retained_intron, protein_coding, processed_transcript	uc003ctz.2	nonsynonymous SNV	exon10	c.C1301T	p.S434F	RPVILGPTSILLSWNLVPEARGYRL	RPVILGPTSILLFWNLVPEARGYRL	4.0	7.0	-	-	3713_3:48629387-48629387 G>A_RPVILGPTSILLFWNLVPEARGYRL
3:37343751-37343751 C>T	1.0	3713	MELANOMA	-	-	-	-	GOLGA4	uc003cgv.3,p.R388C|ENST00000361924,p.R388C|ENST00000356847,p.R410C|uc003cgw.3,p.R410C|ENST00000437131,p.R259C|uc003cgx.3,p.R269C|NM_002078,p.R388C|NM_001172713,p.R410C|ENST00000450863,p.R393C	retained_intron, protein_coding, processed_transcript	uc003cgx.3	nonsynonymous SNV	exon8	c.C805T	p.R269C	TLEMKEEEIAQLRSRIKQMTTQGEE	TLEMKEEEIAQLCSRIKQMTTQGEE	9.0	4.0	-	-	3713_3:37343751-37343751 C>T_TLEMKEEEIAQLCSRIKQMTTQGEE
7:140380908-140380908 C>T	1.0	3713	MELANOMA	-	-	-	-	ADCK2	ENST00000473512,p.R66W|uc003vvz.3,p.R426W|ENST00000476491,p.R426W|uc003vvy.1,p.R426W|ENST00000072869,p.R426W|NM_052853,p.R426W	retained_intron, protein_coding	uc003vvz.3	nonsynonymous SNV	exon4	c.C1276T	p.R426W	AGIPVDLKRKIARLGINMLLKMIFV	AGIPVDLKRKIAWLGINMLLKMIFV	7.0	8.0	-	-	3713_7:140380908-140380908 C>T_AGIPVDLKRKIAWLGINMLLKMIFV
2:46313417-46313417 A>T	1.0	3713	MELANOMA	-	-	-	-	PRKCE	NM_005400,p.K503I|uc002rut.3,p.K503I|ENST00000306156,p.K503I	protein_coding, processed_transcript	uc002rut.3	nonsynonymous SNV	exon11	c.A1508T	p.K503I	GGDLMFQIQRSRKFDEPRSRFYAAE	GGDLMFQIQRSRIFDEPRSRFYAAE	5.0	10.0	unscreened	-	3713_2:46313417-46313417 A>T_GGDLMFQIQRSRIFDEPRSRFYAAE
8:145999288-145999288 G>A	1.0	3713	MELANOMA	-	-	-	-	ZNF34	ENST00000343459,p.S349F|uc003zdx.4,p.S328F|uc003zdy.4,p.S349F|NM_030580,p.S349F|uc010mgb.3,p.S246F|NM_001286769,p.S328F|NM_001286770,p.S309F|ENST00000429371,p.S328F	retained_intron, protein_coding	uc010mgb.3	nonsynonymous SNV	exon3	c.C737T	p.S246F	CGECGKHFSAYSSLIYHQRIHTGEK	CGECGKHFSAYSFLIYHQRIHTGEK	4.0	4.0	unscreened	-	3713_8:145999288-145999288 G>A_CGECGKHFSAYSFLIYHQRIHTGEK
7:20784927-20784927 G>A	0.0	3713	MELANOMA	-	-	-	-	ABCB5	uc003suw.4,p.E654K|ENST00000441315,p.E266K|NM_001163941,p.E1099K|ENST00000404938,p.E1099K|ENST00000258738,p.E654K|uc010kuh.3,p.E1099K|NM_178559,p.E654K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010kuh.3	nonsynonymous SNV	exon26	c.G3295A	p.E1099K	QWLRSQIAIVPQEPVLFNCSIAENI	QWLRSQIAIVPQKPVLFNCSIAENI	10.0	8.0	unscreened	-	3713_7:20784927-20784927 G>A_QWLRSQIAIVPQKPVLFNCSIAENI
8:16026278-16026278 C>T	0.0	3713	MELANOMA	-	-	ID=COSM140602,COSM1699754;OCCURENCE=4(skin)	-	MSR1	ENST00000445506,p.E125K|ENST00000355282,p.E107K|uc003wxb.3,p.E107K|NM_138716,p.E107K|uc003wwz.3,p.E107K|uc003wxa.3,p.E107K|uc010lsu.3,p.E125K|NM_138715,p.E107K|ENST00000381998,p.E107K|ENST00000350896,p.E107K|ENST00000262101,p.E107K|NM_002445,p.E107K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lsu.3	nonsynonymous SNV	exon4	c.G373A	p.E125K	QSLTGKGNDSEEEMRFQEVFMEHMS	QSLTGKGNDSEEKMRFQEVFMEHMS	9.0	3.0	unscreened	-	3713_8:16026278-16026278 C>T_QSLTGKGNDSEEKMRFQEVFMEHMS
2:173850192-173850192 T>C	1.0	3713	MELANOMA	-	-	-	-	RAPGEF4	uc010zef.1,p.F154S|ENST00000397087,p.F230S|uc010zee.1,p.F221S|uc010zed.1,p.F203S|ENST00000538974,p.F203S|NM_007023,p.F374S|NM_001282901,p.F154S|ENST00000264111,p.F373S|NM_001282900,p.F203S|ENST00000409036,p.F374S|uc010fqo.2,p.F203S|ENST00000540783,p.F221S|NM_001100397,p.F230S|uc010zeg.1,p.F201S|uc010zec.1,p.F221S|uc002uhw.4,p.F230S|ENST00000539331,p.F221S|uc010fqp.1,p.F154S|uc002uhv.4,p.F374S|ENST00000535187,p.F154S|ENST00000397081,p.F374S|NM_001282899,p.F221S|uc010zeh.1,p.F154S	retained_intron, protein_coding, processed_transcript	uc010zeh.1	nonsynonymous SNV	exon6	c.T461C	p.F154S	TTVKRELAGVLIFESHAKGGTVLFN	TTVKRELAGVLISESHAKGGTVLFN	1.0	6.0	unscreened	-	3713_2:173850192-173850192 T>C_TTVKRELAGVLISESHAKGGTVLFN
5:64859294-64859294 C>T	1.0	3713	MELANOMA	-	-	-	-	PPWD1	ENST00000503435,p.P53S|NM_015342,p.P53S|ENST00000510930,p.P53S|ENST00000511908,p.P53S|uc003jtv.5,p.P53S|ENST00000515447,p.P53S|ENST00000261308,p.P53S	retained_intron, protein_coding, nonsense_mediated_decay	uc003jtv.5	nonsynonymous SNV	exon1	c.C157T	p.P53S	ENDEENEERWVGPLPVEATLAKKRK	ENDEENEERWVGSLPVEATLAKKRK	9.0	2.0	unscreened	-	3713_5:64859294-64859294 C>T_ENDEENEERWVGSLPVEATLAKKRK
11:123894039-123894039 G>A	0.0	3713	MELANOMA	-	-	-	-	OR10G9	NM_001001953,p.G107E|uc010sad.2,p.G107E|ENST00000375024,p.G107E	protein_coding	uc010sad.2	nonsynonymous SNV	exon1	c.G320A	p.G107E	SCVAQLYFFHFLGSTECFLYTVMSY	SCVAQLYFFHFLESTECFLYTVMSY	1.0	10.0	unscreened	-	3713_11:123894039-123894039 G>A_SCVAQLYFFHFLESTECFLYTVMSY
9:90321761-90321761 C>T	1.0	3713	MELANOMA	-	-	ID=COSM1249678,COSM1249677;OCCURENCE=1(oesophagus),1(large_intestine)	-	DAPK1	uc004apd.3,p.R1259W|NM_001288730,p.R1259W|NM_004938,p.R1259W|uc004apc.3,p.R1259W|uc011lth.2,p.R996W|ENST00000491893,p.R1193W|ENST00000408954,p.R1259W|ENST00000472284,p.R1259W|ENST00000469640,p.R1284W|ENST00000358077,p.R1259W|NM_001288729,p.R1259W|uc004apg.2,p.R236W|NM_001288731,p.R1259W|uc011ltg.2,p.R1193W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lth.2	nonsynonymous SNV	exon24	c.C2986T	p.R996W	EPVMIYQPRDFFRAQTLKETSLTNT	EPVMIYQPRDFFWAQTLKETSLTNT	5.0	8.0	unscreened	-	3713_9:90321761-90321761 C>T_EPVMIYQPRDFFWAQTLKETSLTNT
4:68374796-68374796 C>A	1.0	3713	MELANOMA	-	-	-	-	CENPC	ENST00000273853,p.R547I|uc010ihm.1,p.R547I|ENST00000513216,p.R454I|NM_001812,p.R547I|uc003hdd.1,p.R547I	retained_intron, protein_coding, nonsense_mediated_decay	uc010ihm.1	nonsynonymous SNV	exon10	c.G1640T	p.R547I	SEESPVYSNSSVRNELPMHHNSSRK	SEESPVYSNSSVINELPMHHNSSRK	5.0	9.0	unscreened	-	3713_4:68374796-68374796 C>A_SEESPVYSNSSVINELPMHHNSSRK
18:47777930-47777930 C>T	1.0	3713	MELANOMA	-	-	-	-	CFAP53	ENST00000398545,p.G233E|uc002lee.2,p.G233E|NM_145020,p.G233E	protein_coding	uc002lee.2	nonsynonymous SNV	exon4	c.G698A	p.G233E	RRQKELMENTRLGLNAQITSIKAQR	RRQKELMENTRLELNAQITSIKAQR	1.0	5.0	unscreened	-	3713_18:47777930-47777930 C>T_RRQKELMENTRLELNAQITSIKAQR
2:68607936-68607936 C>T	0.0	3713	MELANOMA	-	-	-	-	PLEK	NM_002664,p.R94W|uc010fde.3,p.R94W|ENST00000234313,p.R94W|uc002sen.4,p.R94W	retained_intron, protein_coding	uc010fde.3	nonsynonymous SNV	exon3	c.C280T	p.R94W	QAAFLEERDAWVRDIKKAIKCIEGG	QAAFLEERDAWVWDIKKAIKCIEGG	8.0	4.0	unscreened	-	3713_2:68607936-68607936 C>T_QAAFLEERDAWVWDIKKAIKCIEGG
13:95899299-95899299 G>A	1.0	3713	MELANOMA	-	-	-	-	ABCC4	uc010afl.1,p.S36F|ENST00000412704,p.S79F|NM_001301830,p.S79F|uc001vmf.2,p.S36F|uc010afk.3,p.S79F|NM_001105515,p.S79F|ENST00000536256,p.S79F|ENST00000431522,p.S79F|NM_001301829,p.S79F|ENST00000376887,p.S79F|NM_005845,p.S79F|uc001vmd.4,p.S79F|uc010tih.1,p.S79F|uc001vme.2,p.S79F|uc010afm.1,p.S92F	protein_coding, processed_transcript	uc010tih.1	nonsynonymous SNV	exon3	c.C236T	p.S79F	EVLRAENDAQKPSLTRAIIKCYWKS	EVLRAENDAQKPFLTRAIIKCYWKS	1.0	3.0	-	-	3713_13:95899299-95899299 G>A_EVLRAENDAQKPFLTRAIIKCYWKS
10:24896731-24896731 G>A	1.0	3713	MELANOMA	-	-	-	-	ARHGAP21	ENST00000396432,p.P842S|uc009xkl.1,p.P842S|uc001isb.2,p.P842S|NM_020824,p.P842S|ENST00000320481,p.P629S|uc010qdc.1,p.P677S|ENST00000376410,p.P832S|ENST00000446003,p.P842S	retained_intron, protein_coding, processed_transcript	uc010qdc.1	nonsynonymous SNV	exon4	c.C2029T	p.P677S	ASTSQVPSIATVPPCLTTSAPLIRR	ASTSQVPSIATVSPCLTTSAPLIRR	8.0	5.0	-	-	3713_10:24896731-24896731 G>A_ASTSQVPSIATVSPCLTTSAPLIRR
19:6684808-6684808 C>T	1.0	3713	MELANOMA	-	-	-	-	C3	NM_000064,p.G1336E|ENST00000245907,p.G1336E|ENST00000596548,p.G30E|uc002mfm.3,p.G1336E	retained_intron, protein_coding, processed_transcript	uc002mfm.3	nonsynonymous SNV	exon31	c.G4007A	p.G1336E	TKENEGFTVTAEGKGQGTLSVVTMY	TKENEGFTVTAEEKGQGTLSVVTMY	9.0	4.0	-	-	3713_19:6684808-6684808 C>T_TKENEGFTVTAEEKGQGTLSVVTMY
1:74648519-74648519 A>C	1.0	3713	MELANOMA	-	-	-	-	LRRIQ3	uc001dfy.4,p.F92L|NM_001105659,p.F92L|ENST00000415760,p.F92L|ENST00000395089,p.F92L|ENST00000370911,p.F92L|ENST00000354431,p.F92L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001dfy.4	nonsynonymous SNV	exon3	c.T276G	p.F92L	HGNQIKSLPNTKFWNGLKNLKLLYL	HGNQIKSLPNTKLWNGLKNLKLLYL	4.0	3.0	unscreened	-	3713_1:74648519-74648519 A>C_HGNQIKSLPNTKLWNGLKNLKLLYL
10:15256467-15256467 G>A	1.0	3713	MELANOMA	-	-	-	-	FAM171A1	ENST00000378116,p.P374S|uc001iob.3,p.P374S|NM_001010924,p.P374S	protein_coding, processed_transcript	uc001iob.3	nonsynonymous SNV	exon8	c.C1120T	p.P374S	INLLFSRRASEFPGPLSVTSHGRPE	INLLFSRRASEFSGPLSVTSHGRPE	2.0	9.0	unscreened	-	3713_10:15256467-15256467 G>A_INLLFSRRASEFSGPLSVTSHGRPE
11:56020129-56020129 C>T	0.0	3713	MELANOMA	-	-	-	-	OR5T3	ENST00000303059,p.H152Y|uc010rjd.2,p.H152Y|NM_001004747,p.H152Y	protein_coding	uc010rjd.2	nonsynonymous SNV	exon1	c.C454T	p.H152Y	TECFLLAAMAYDHYVAIYNPLLYSV	TECFLLAAMAYDYYVAIYNPLLYSV	1.0	2.0	unscreened	-	3713_11:56020129-56020129 C>T_TECFLLAAMAYDYYVAIYNPLLYSV
5:82834606-82834606 T>A	0.0	3713	MELANOMA	-	-	-	-	VCAN	uc003kii.3,p.F1928L|NM_001164097,p.F941L|NM_004385,p.F1928L|ENST00000343200,p.F941L|uc003kij.3,p.F941L|ENST00000513960,p.F941L|uc003kil.3,p.F592L|ENST00000265077,p.F1928L	retained_intron, protein_coding, processed_transcript	uc003kil.3	nonsynonymous SNV	exon1	c.T1776A	p.F592L	NYGAEIRGFSTGFPLEEDFSGDFRE	NYGAEIRGFSTGLPLEEDFSGDFRE	7.0	3.0	unscreened	-	3713_5:82834606-82834606 T>A_NYGAEIRGFSTGLPLEEDFSGDFRE
7:133602355-133602355 G>C	0.0	3713	MELANOMA	-	-	-	-	EXOC4	ENST00000253861,p.E631Q|uc003vrk.3,p.E631Q|uc011kpo.2,p.E530Q|ENST00000539845,p.E530Q|NM_021807,p.E631Q|ENST00000545148,p.E241Q|uc011kpp.2,p.E163Q|uc003vrl.3,p.E241Q	retained_intron, protein_coding, processed_transcript	uc011kpp.2	nonsynonymous SNV	exon5	c.G487C	p.E163Q	CTAAYRGIVQSEEKLVISASWAKDD	CTAAYRGIVQSEQKLVISASWAKDD	9.0	1.0	unscreened	-	3713_7:133602355-133602355 G>C_CTAAYRGIVQSEQKLVISASWAKDD
3:9882455-9882455 G>A	1.0	3713	MELANOMA	-	-	-	-	RPUSD3	NM_001142547,p.P133S|NM_173659,p.P148S|uc011atl.2,p.P133S|uc011atk.2,p.P148S|ENST00000383820,p.P148S|ENST00000424438,p.P116S|uc011atm.1,p.P140S|ENST00000418713,p.P144S|ENST00000433535,p.P133S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011atm.1	nonsynonymous SNV	exon5	c.C418T	p.P140S	KESSGLVLLSSCPQTASRLQKYFTH	KESSGLVLLSSCSQTASRLQKYFTH	9.0	8.0	-	-	3713_3:9882455-9882455 G>A_KESSGLVLLSSCSQTASRLQKYFTH
X:32456459-32456459 G>A	1.0	3713	MELANOMA	0.0012	-	ID=COSM1599336,COSM171023,COSM1120602;OCCURENCE=2(endometrium),1(large_intestine)	-	DMD	NM_004010,p.R1201C|uc004dda.1,p.R1324C|ENST00000357033,p.R1324C|NM_004009,p.R1320C|NM_000109,p.R1316C|uc004ddb.1,p.R1316C|ENST00000378677,p.R1320C|NM_004006,p.R1324C|uc004dcz.2,p.R1201C|uc004dcy.1,p.R1320C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004ddb.1	nonsynonymous SNV	exon29	c.C3946T	p.R1316C	LMRHSEDNPNQIRILAQTLTDGGVM	LMRHSEDNPNQICILAQTLTDGGVM	8.0	10.0	-	-	3713_X:32456459-32456459 G>A_LMRHSEDNPNQICILAQTLTDGGVM
19:1969881-1969881 C>T	1.0	3713	MELANOMA	-	-	-	-	CSNK1G2	NM_001319,p.S37L|ENST00000255641,p.S37L|uc002lul.4,p.S37L|ENST00000591752,p.S37L|ENST00000589350,p.S37L	retained_intron, protein_coding, processed_transcript	uc002lul.4	nonsynonymous SNV	exon2	c.C110T	p.S37L	RSSHGIRSSGTSSGVLMVGPNFRVG	RSSHGIRSSGTSLGVLMVGPNFRVG	8.0	2.0	-	-	3713_19:1969881-1969881 C>T_RSSHGIRSSGTSLGVLMVGPNFRVG
7:116550353-116550353 C>T	1.0	3713	MELANOMA	-	-	-	-	CAPZA2	ENST00000458284,p.L165F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000458284	nonsynonymous SNV	exon6	c.C493T	p.L165F	YNHSFNHSSGWHLENSGSLL	YNHSFNHSSGWHFENSGSLL	9.0	8.0	-	-	3713_7:116550353-116550353 C>T_YNHSFNHSSGWHFENSGSLL
1:46463432-46463432 C>T	0.0	3713	MELANOMA	-	-	-	-	MAST2	uc001cov.3,p.P210L|ENST00000372009,p.P210L|ENST00000361297,p.P210L|uc001cox.1,p.P67L|ENST00000372008,p.P95L|uc001cow.3,p.P210L|uc001coz.1,p.P95L|uc009vya.3,p.P125L|NM_015112,p.P210L	protein_coding, processed_transcript	uc009vya.3	nonsynonymous SNV	exon4	c.C374T	p.P125L	GNSPLDSPRNFSPNAPAHFSFVPAR	GNSPLDSPRNFSLNAPAHFSFVPAR	9.0	2.0	-	-	3713_1:46463432-46463432 C>T_GNSPLDSPRNFSLNAPAHFSFVPAR
Y:2847930-2847930 A>G	1.0	3713	MELANOMA	-	-	-	-	ZFY	ENST00000431102,p.K577E|ENST00000155093,p.K768E|uc004fqj.3,p.K768E|NM_001145276,p.K577E|NM_003411,p.K768E|ENST00000449237,p.K691E|NM_001145275,p.K691E|uc010nwe.3,p.K691E|ENST00000383052,p.K768E|uc011nan.2,p.K577E	protein_coding, processed_transcript	uc011nan.2	nonsynonymous SNV	exon7	c.A1729G	p.K577E	SGFKRHVISIHTKDYPHRCEYCKKG	SGFKRHVISIHTEDYPHRCEYCKKG	4.0	10.0	unscreened	-	3713_Y:2847930-2847930 A>G_SGFKRHVISIHTEDYPHRCEYCKKG
3:36893302-36893302 C>T	1.0	3713	MELANOMA	-	-	-	-	TRANK1	ENST00000428977,p.E1005K|NM_014831,p.E1555K|ENST00000301807,p.E1005K|ENST00000429976,p.E1555K|uc003cgj.3,p.E1555K	protein_coding, processed_transcript	uc003cgj.3	nonsynonymous SNV	exon14	c.G4663A	p.E1555K	VANETAKEKIPEELGLALVLTIYEA	VANETAKEKIPEKLGLALVLTIYEA	5.0	9.0	unscreened	-	3713_3:36893302-36893302 C>T_VANETAKEKIPEKLGLALVLTIYEA
9:116276744-116276744 G>A	1.0	3713	MELANOMA	-	-	-	-	RGS3	ENST00000350696,p.G495E|ENST00000374140,p.G495E|uc010muy.4,p.G214E|NM_001276261,p.G214E|NM_130795,p.G214E|NM_017790,p.G383E|uc004bhr.4,p.G383E|ENST00000374136,p.G121E|ENST00000343817,p.G214E|NM_001282923,p.G385E|uc004bhs.4,p.G369E|uc004bhq.4,p.G495E|uc004bht.4,p.G214E|ENST00000317613,p.G383E|uc004bhu.3,p.G121E|ENST00000394646,p.G214E|NM_144488,p.G495E	retained_intron, protein_coding, processed_transcript	uc010muy.4	nonsynonymous SNV	exon6	c.G641A	p.G214E	PVYQEDTIPEESGSPSKGKSYTGLG	PVYQEDTIPEESESPSKGKSYTGLG	7.0	6.0	-	-	3713_9:116276744-116276744 G>A_PVYQEDTIPEESESPSKGKSYTGLG
1:248224344-248224344 C>T	0.0	3713	MELANOMA	-	-	-	-	OR2L3	NM_001004687,p.R121C|ENST00000359959,p.R121C|uc001idx.1,p.R121C	protein_coding	uc001idx.1	nonsynonymous SNV	exon1	c.C361T	p.R121C	AEALLLASMAYDRYIAICFPLHYPI	AEALLLASMAYDCYIAICFPLHYPI	1.0	2.0	unscreened	-	3713_1:248224344-248224344 C>T_AEALLLASMAYDCYIAICFPLHYPI
3:49308822-49308822 C>T	1.0	3713	MELANOMA	-	-	-	-	C3orf62	uc003cwm.2,p.E48K|ENST00000343010,p.E199K|NM_198562,p.E199K|uc003cwn.2,p.E199K	retained_intron, protein_coding, nonsense_mediated_decay	uc003cwn.2	nonsynonymous SNV	exon3	c.G595A	p.E199K	IEELAGKIEFENELNHMCGHCQDSP	IEELAGKIEFENKLNHMCGHCQDSP	6.0	4.0	-	-	3713_3:49308822-49308822 C>T_IEELAGKIEFENKLNHMCGHCQDSP
15:41863825-41863825 T>C	1.0	3713	MELANOMA	-	-	-	-	TYRO3	NM_006293,p.F565L|ENST00000263798,p.F565L|ENST00000559066,p.F520L|uc001zof.2,p.F565L	retained_intron, protein_coding, nonsense_mediated_decay	uc001zof.2	nonsynonymous SNV	exon14	c.T1693C	p.F565L	KADIIASSDIEEFLREAACMKEFDH	KADIIASSDIEELLREAACMKEFDH	8.0	9.0	-	-	3713_15:41863825-41863825 T>C_KADIIASSDIEELLREAACMKEFDH
4:128751917-128751917 C>T	1.0	3713	MELANOMA	-	-	-	-	HSPA4L	NM_014278,p.P764L|ENST00000505726,p.P738L|ENST00000508776,p.P764L|ENST00000296464,p.P764L|uc003ifm.3,p.P764L|uc011cgr.2,p.P731L|ENST00000439123,p.P795L	protein_coding, processed_transcript	uc011cgr.2	nonsynonymous SNV	exon18	c.C2192T	p.P731L	MNAQNKLSLTQDPVVKVSEIVAKSK	MNAQNKLSLTQDLVVKVSEIVAKSK	2.0	6.0	unscreened	-	3713_4:128751917-128751917 C>T_MNAQNKLSLTQDLVVKVSEIVAKSK
10:33510772-33510772 T>C	1.0	3713	MELANOMA	-	-	-	-	NRP1	uc001ixc.1,p.N386S|uc001iwy.4,p.N386S|ENST00000265371,p.N386S|uc001ixa.2,p.N386S|ENST00000395995,p.N386S|uc001iwx.4,p.N386S|uc001iww.4,p.N205S|NM_001244973,p.N386S|NM_001024629,p.N386S|ENST00000374867,p.N386S|ENST00000374823,p.N386S|uc009xlz.3,p.N386S|ENST00000374875,p.N205S|NM_003873,p.N386S|ENST00000432372,p.N59S|NM_001244972,p.N386S|ENST00000374822,p.N386S|ENST00000374816,p.N386S|ENST00000374821,p.N386S|uc001iwv.4,p.N386S|uc001ixb.2,p.N386S|uc001iwz.2,p.N386S|NM_001024628,p.N386S	protein_coding, processed_transcript	uc009xlz.3	nonsynonymous SNV	exon8	c.A1157G	p.N386S	EGNKPVLFQGNTNPTDVVVAVFPKP	EGNKPVLFQGNTSPTDVVVAVFPKP	9.0	5.0	-	-	3713_10:33510772-33510772 T>C_EGNKPVLFQGNTSPTDVVVAVFPKP
5:140750005-140750005 G>A	1.0	3713	MELANOMA	-	-	-	-	PCDHGB3	uc003ljw.2,p.R15Q|ENST00000576222,p.R15Q|uc011dat.2,p.R15Q|NM_018924,p.R15Q|NM_032097,p.R15Q	protein_coding	uc011dat.2	nonsynonymous SNV	exon1	c.G44A	p.R15Q	NSSGWRGPAGQRRMLFLFLLSLLDQ	NSSGWRGPAGQRQMLFLFLLSLLDQ	3.0	9.0	unscreened	-	3713_5:140750005-140750005 G>A_NSSGWRGPAGQRQMLFLFLLSLLDQ
11:123886601-123886601 G>A	0.0	3713	MELANOMA	-	-	-	-	OR10G4	uc010sac.2,p.G107E|ENST00000320891,p.G107E|NM_001004462,p.G107E	protein_coding	uc010sac.2	nonsynonymous SNV	exon1	c.G320A	p.G107E	SCVAQLYFFHFLGSTECFLYTVMSY	SCVAQLYFFHFLESTECFLYTVMSY	1.0	1.0	unscreened	-	3713_11:123886601-123886601 G>A_SCVAQLYFFHFLESTECFLYTVMSY
X:73751235-73751235 C>T	1.0	3713	MELANOMA	-	-	-	-	SLC16A2	uc010nlr.2,p.S162L	protein_coding	uc010nlr.2	nonsynonymous SNV	exon3	c.C485T	p.S162L	MWPSTLPVCPPSSGL	MWPSTLPVCPPSLGL	2.0	7.0	unscreened	-	3713_X:73751235-73751235 C>T_MWPSTLPVCPPSLGL
8:2976057-2976057 C>T	1.0	3713	MELANOMA	-	-	-	-	CSMD1	ENST00000400186,p.M2099I|uc011kwj.2,p.M1491I|ENST00000602723,p.M2099I|uc010lrg.3,p.M167I|uc022aqr.1,p.M2098I|ENST00000542608,p.M2098I|NM_033225,p.M2098I|ENST00000602557,p.M2099I|ENST00000537824,p.M2098I|ENST00000520002,p.M2099I	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon42	c.G6294A	p.M2098I	NCPDPPPFQNGYMINSDYSVGQSVS	NCPDPPPFQNGYIINSDYSVGQSVS	1.0	4.0	unscreened	-	3713_8:2976057-2976057 C>T_NCPDPPPFQNGYIINSDYSVGQSVS
17:79410479-79410479 C>T	1.0	3713	MELANOMA	-	-	-	-	BAHCC1	ENST00000307745,p.P702S	retained_intron, protein_coding, processed_transcript	ENST00000307745	nonsynonymous SNV	exon9	c.C2104T	p.P702S	DTTHGDGEVRQPPVGIAVALARQKD	DTTHGDGEVRQPSVGIAVALARQKD	7.0	6.0	unscreened	-	3713_17:79410479-79410479 C>T_DTTHGDGEVRQPSVGIAVALARQKD
1:64059235-64059235 G>A	1.0	3713	MELANOMA	-	-	-	-	PGM1	uc001dbh.3,p.V26M|NM_002633,p.V26M|ENST00000371084,p.V26M	protein_coding, processed_transcript	uc001dbh.3	nonsynonymous SNV	exon1	c.G76A	p.V26M	DQKPGTSGLRKRVKVFQSSANYAEN	DQKPGTSGLRKRMKVFQSSANYAEN	8.0	1.0	unscreened	-	3713_1:64059235-64059235 G>A_DQKPGTSGLRKRMKVFQSSANYAEN
7:142609838-142609838 G>A	0.0	3713	MELANOMA	-	-	-	-	TRPV5	NM_019841,p.T533I|ENST00000265310,p.T533I|ENST00000439304,p.T478I|uc003wby.1,p.T533I	protein_coding	uc003wby.1	nonsynonymous SNV	exon13	c.C1598T	p.T533I	GQFYDYPMALFTTFELFLTVIDAPA	GQFYDYPMALFTIFELFLTVIDAPA	1.0	4.0	unscreened	-	3713_7:142609838-142609838 G>A_GQFYDYPMALFTIFELFLTVIDAPA
11:6048037-6048037 C>T	0.0	3713	MELANOMA	-	-	-	-	OR56A1	uc010qzw.2,p.G300R|ENST00000316650,p.G300R|NM_001001917,p.G300R	protein_coding	uc010qzw.2	nonsynonymous SNV	exon1	c.G898A	p.G300R	HLIPPALNPIVYGVRTKEIKQGIQK	HLIPPALNPIVYRVRTKEIKQGIQK	1.0	2.0	unscreened	-	3713_11:6048037-6048037 C>T_HLIPPALNPIVYRVRTKEIKQGIQK
11:55594894-55594894 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1644865;OCCURENCE=1(salivary_gland)	-	OR5L2	ENST00000378397,p.S67F|NM_001004739,p.S67F|uc001nhy.1,p.S67F	protein_coding	uc001nhy.1	nonsynonymous SNV	exon1	c.C200T	p.S67F	LHTPVYFFLSHLSFVDFCYSSIIVP	LHTPVYFFLSHLFFVDFCYSSIIVP	1.0	7.0	unscreened	-	3713_11:55594894-55594894 C>T_LHTPVYFFLSHLFFVDFCYSSIIVP
3:99514816-99514816 G>A	1.0	3713	MELANOMA	-	-	-	-	COL8A1	NM_001850,p.E691K|uc003dth.2,p.E691K|ENST00000273342,p.E691K|NM_020351,p.E691K|ENST00000261037,p.E691K|uc003dtg.2,p.E691K|uc003dti.1,p.E692K	protein_coding, processed_transcript	uc003dti.1	nonsynonymous SNV	exon3	c.G2074A	p.E692K	FKNNEPVMYTYDEYKKGFLDQASGS	FKNNEPVMYTYDKYKKGFLDQASGS	7.0	2.0	unscreened	-	3713_3:99514816-99514816 G>A_FKNNEPVMYTYDKYKKGFLDQASGS
17:37071361-37071361 C>T	1.0	3713	MELANOMA	-	-	-	1	LASP1	uc010wdz.2,p.P136S|NM_001271608,p.P136S|ENST00000579123,p.P49S|uc002hra.3,p.P192S|ENST00000435347,p.P192S|ENST00000433206,p.P136S|ENST00000318008,p.P192S|NM_006148,p.P192S	retained_intron, protein_coding, nonsense_mediated_decay	uc010wdz.2	nonsynonymous SNV	exon5	c.C406T	p.P136S	AQSYGGYKEPAAPVSIQRSAPGGGG	AQSYGGYKEPAASVSIQRSAPGGGG	10.0	7.0	-	-	3713_17:37071361-37071361 C>T_AQSYGGYKEPAASVSIQRSAPGGGG
14:92047420-92047420 G>A	0.0	3713	MELANOMA	-	-	-	-	CATSPERB	ENST00000256343,p.P1055L|uc001xzs.1,p.P1055L|NM_024764,p.P1055L|uc010aub.1,p.P577L	retained_intron, protein_coding, nonsense_mediated_decay	uc010aub.1	nonsynonymous SNV	exon13	c.C1730T	p.P577L	FQIYVDEAPLPFPGHTLIAVATAVV	FQIYVDEAPLPFLGHTLIAVATAVV	1.0	3.0	unscreened	-	3713_14:92047420-92047420 G>A_FQIYVDEAPLPFLGHTLIAVATAVV
17:77709391-77709391 G>A	0.0	3713	MELANOMA	-	-	-	-	ENPP7	ENST00000576512,p.E18K|NM_178543,p.E317K|uc002jxa.3,p.E317K|ENST00000328313,p.E317K	protein_coding	uc002jxa.3	nonsynonymous SNV	exon3	c.G949A	p.E317K	PKLHVYKKEAFPEAFHYANNPRVTP	PKLHVYKKEAFPKAFHYANNPRVTP	1.0	10.0	unscreened	-	3713_17:77709391-77709391 G>A_PKLHVYKKEAFPKAFHYANNPRVTP
1:158687311-158687311 C>T	0.0	3713	MELANOMA	-	-	-	-	OR6K3	ENST00000368146,p.D215N|ENST00000368145,p.D199N|uc021pbn.1,p.D199N|NM_001005327,p.D199N	protein_coding	uc021pbn.1	nonsynonymous SNV	exon1	c.G595A	p.D199N	LACTDTSMILIEDVIHAVTIIITFL	LACTDTSMILIENVIHAVTIIITFL	1.0	2.0	unscreened	-	3713_1:158687311-158687311 C>T_LACTDTSMILIENVIHAVTIIITFL
10:135087270-135087270 G>A	0.0	3713	MELANOMA	-	-	-	-	ADAM8	ENST00000560135,p.P92L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000560135	nonsynonymous SNV	exon4	c.C275T	p.P92L	PGLSRQPQHLCRPQGFLPGGVRPAP	PGLSRQPQHLCRLQGFLPGGVRPAP	6.0	1.0	unscreened	-	3713_10:135087270-135087270 G>A_PGLSRQPQHLCRLQGFLPGGVRPAP
11:61511777-61511777 C>T	1.0	3713	MELANOMA	-	-	-	-	DAGLA	uc001nsa.3,p.P982L|NM_006133,p.P982L|ENST00000257215,p.P982L	protein_coding, nonsense_mediated_decay	uc001nsa.3	nonsynonymous SNV	exon20	c.C2945T	p.P982L	PKPPRLFAGSADPSSGISLSPSFPL	PKPPRLFAGSADLSSGISLSPSFPL	1.0	7.0	unscreened	-	3713_11:61511777-61511777 C>T_PKPPRLFAGSADLSSGISLSPSFPL
17:65907317-65907317 C>T	1.0	3713	MELANOMA	-	-	-	-	BPTF	uc002jge.3,p.P1232L|NM_182641,p.P1106L|uc002jgf.3,p.P1106L|NM_004459,p.P1232L|ENST00000424123,p.P1093L|ENST00000335221,p.P1232L|ENST00000321892,p.P1232L|ENST00000544778,p.P1169L|ENST00000306378,p.P1106L	retained_intron, protein_coding, processed_transcript	uc002jgf.3	nonsynonymous SNV	exon11	c.C3317T	p.P1106L	TSTNSSKNLSESPVITKAKEGCQSD	TSTNSSKNLSESLVITKAKEGCQSD	9.0	6.0	-	-	3713_17:65907317-65907317 C>T_TSTNSSKNLSESLVITKAKEGCQSD
7:31009539-31009539 C>T	0.0	3713	MELANOMA	-	-	-	-	GHRHR	uc003tby.3,p.P45L|NM_000823,p.P109L|ENST00000326139,p.P109L|uc003tbx.3,p.P109L|ENST00000396227,p.P45L|ENST00000409904,p.P45L|ENST00000337750,p.P45L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003tby.3	nonsynonymous SNV	exon1	c.C134T	p.P45L	TITGWSEPFPPYPVACPVPLELLAE	TITGWSEPFPPYLVACPVPLELLAE	1.0	1.0	unscreened	-	3713_7:31009539-31009539 C>T_TITGWSEPFPPYLVACPVPLELLAE
10:53822391-53822391 G>A	0.0	3713	MELANOMA	-	-	-	-	PRKG1	ENST00000373976,p.G170D	protein_coding	ENST00000373976	nonsynonymous SNV	exon6	c.G509A	p.G170D	GKGDWFGEKALQGWTWNLFEYVVE	GKGDWFGEKALQDWTWNLFEYVVE	1.0	5.0	unscreened	-	3713_10:53822391-53822391 G>A_GKGDWFGEKALQDWTWNLFEYVVE
12:2558208-2558208 G>A	1.0	3713	MELANOMA	-	-	-	-	CACNA1C	uc001qjz.2,p.G182R|uc001qkh.2,p.G182R|NM_001167623,p.G182R|NM_001129842,p.G182R|ENST00000399634,p.G182R|NM_001129830,p.G182R|ENST00000399601,p.G182R|NM_001129843,p.G182R|uc001qke.2,p.G182R|NM_001129841,p.G182R|NM_001129837,p.G182R|uc009zdw.1,p.G182R|ENST00000406454,p.G182R|uc001qks.2,p.G182R|ENST00000399649,p.G182R|NM_199460,p.G182R|uc001qkr.2,p.G182R|NM_001129834,p.G182R|ENST00000399644,p.G182R|ENST00000399638,p.G182R|uc001qkp.2,p.G182R|ENST00000399655,p.G182R|ENST00000399629,p.G182R|uc001qkc.2,p.G182R|NM_001167625,p.G182R|NM_001129831,p.G182R|uc001qkn.2,p.G182R|uc009zdu.1,p.G182R|NM_001129846,p.G182R|NM_001129829,p.G182R|NM_001129840,p.G182R|ENST00000399595,p.G182R|NM_001167624,p.G182R|NM_001129833,p.G182R|NM_001129827,p.G182R|ENST00000335762,p.G182R|uc001qku.2,p.G182R|uc009zdv.1,p.G182R|ENST00000399637,p.G182R|NM_001129844,p.G182R|uc001qkd.2,p.G182R|NM_001129835,p.G182R|uc001qkg.2,p.G182R|uc001qkt.2,p.G182R|uc001qkl.2,p.G182R|uc001qkj.2,p.G182R|NM_001129836,p.G182R|ENST00000344100,p.G182R|ENST00000327702,p.G182R|ENST00000399617,p.G182R|NM_001129832,p.G182R|ENST00000402845,p.G182R|ENST00000399597,p.G182R|ENST00000399591,p.G182R|ENST00000399606,p.G182R|uc001qkf.2,p.G182R|uc001qko.2,p.G182R|uc001qkk.2,p.G182R|NM_001129838,p.G182R|uc001qkb.2,p.G182R|ENST00000480911,p.G182R|NM_001129839,p.G182R|uc001qkq.2,p.G182R|ENST00000399621,p.G182R|ENST00000399603,p.G182R|ENST00000399641,p.G182R|NM_000719,p.G182R|ENST00000347598,p.G182R|uc001qkm.2,p.G182R	retained_intron, protein_coding, processed_transcript	uc009zdw.1	nonsynonymous SNV	exon4	c.G544A	p.G182R	FTVEAFLKVIAYGLLFHPNAYLRNG	FTVEAFLKVIAYRLLFHPNAYLRNG	2.0	5.0	unscreened	-	3713_12:2558208-2558208 G>A_FTVEAFLKVIAYRLLFHPNAYLRNG
12:66605307-66605307 A>T	0.0	3713	MELANOMA	-	-	-	-	IRAK3	ENST00000457197,p.E112V|NM_007199,p.E173V|ENST00000261233,p.E173V|NM_001142523,p.E112V|uc001sth.3,p.E173V|uc010ssy.2,p.E112V	protein_coding	uc010ssy.2	nonsynonymous SNV	exon4	c.A335T	p.E112V	GTRNFHKDFLIGEGEIFEVYRVEIQ	GTRNFHKDFLIGVGEIFEVYRVEIQ	4.0	6.0	unscreened	-	3713_12:66605307-66605307 A>T_GTRNFHKDFLIGVGEIFEVYRVEIQ
11:4903367-4903367 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1604637,COSM1604638;OCCURENCE=2(liver)	-	OR51T1	NM_001004759,p.L107F|ENST00000322049,p.L80F|uc010qyp.2,p.L107F|ENST00000380378,p.L107F	protein_coding	uc010qyp.2	nonsynonymous SNV	exon1	c.C319T	p.L107F	LAAVDLCLTITTLPTVLGVLWFHAR	LAAVDLCLTITTFPTVLGVLWFHAR	1.0	2.0	unscreened	-	3713_11:4903367-4903367 C>T_LAAVDLCLTITTFPTVLGVLWFHAR
7:1037317-1037317 G>A	1.0	3713	MELANOMA	-	-	-	-	C7orf50	ENST00000444428,p.P145S|NM_001134395,p.P177S|NM_032350,p.P177S|ENST00000397098,p.P177S|NM_001134396,p.P177S|uc011jvt.1,p.P177S|ENST00000357429,p.P177S|uc003sju.2,p.P177S|ENST00000491163,p.P177S|uc011jvu.1,p.P177S|ENST00000397100,p.P177S	retained_intron, protein_coding, processed_transcript	uc011jvu.1	nonsynonymous SNV	exon5	c.C529T	p.P177S	ALMRELDEEGSDPPLPGRAQRIRQV	ALMRELDEEGSDSPLPGRAQRIRQV	9.0	1.0	unscreened	-	3713_7:1037317-1037317 G>A_ALMRELDEEGSDSPLPGRAQRIRQV
2:234094525-234094525 G>A	0.0	3713	MELANOMA	-	-	-	-	INPP5D	ENST00000445964,p.G392E|ENST00000435188,p.G392E|ENST00000415617,p.G392E|ENST00000359570,p.G759E|ENST00000450745,p.G523E|ENST00000455936,p.G523E	retained_intron, protein_coding, processed_transcript	ENST00000455936	nonsynonymous SNV	exon16	c.G1568A	p.G523E	SFVKSQEGENEEGSEGELVVKFGET	SFVKSQEGENEEESEGELVVKFGET	8.0	5.0	unscreened	-	3713_2:234094525-234094525 G>A_SFVKSQEGENEEESEGELVVKFGET
4:141888805-141888805 C>T	0.0	3713	MELANOMA	-	-	ID=COSM175565,COSM175566;OCCURENCE=2(large_intestine),1(endometrium)	-	RNF150	ENST00000507500,p.R236Q|ENST00000515673,p.R236Q|ENST00000379512,p.R95Q|uc003iip.1,p.R236Q|uc003iio.1,p.R236Q|ENST00000506101,p.R67Q|NM_020724,p.R236Q|ENST00000420921,p.R95Q	protein_coding, processed_transcript	uc003iip.1	nonsynonymous SNV	exon2	c.G707A	p.R236Q	LAWLVFYYIQRFRYANARDRNQRRL	LAWLVFYYIQRFQYANARDRNQRRL	2.0	3.0	unscreened	-	3713_4:141888805-141888805 C>T_LAWLVFYYIQRFQYANARDRNQRRL
17:73814834-73814834 C>T	1.0	3713	MELANOMA	-	-	-	-	UNK	ENST00000589666,p.P495S|uc021udd.2,p.P495S|NM_001080419,p.P495S|ENST00000293218,p.P571S	retained_intron, protein_coding, nonsense_mediated_decay	uc021udd.2	nonsynonymous SNV	exon11	c.C1483T	p.P495S	ATPPSPVGTSSVPGMNANALPFYPT	ATPPSPVGTSSVSGMNANALPFYPT	8.0	7.0	-	-	3713_17:73814834-73814834 C>T_ATPPSPVGTSSVSGMNANALPFYPT
22:31644754-31644754 C>T	1.0	3713	MELANOMA	-	-	-	-	LIMK2	ENST00000340552,p.R18W|NM_001031801,p.R18W|ENST00000425203,p.R18W|uc003akj.3,p.R18W|ENST00000333611,p.R18W|uc003akk.3,p.R18W|NM_016733,p.R18W	retained_intron, protein_coding, processed_transcript	uc003akk.3	nonsynonymous SNV	exon1	c.C52T	p.R18W	SVPAYFTSRDLFRCSECQDSLTNWY	SVPAYFTSRDLFWCSECQDSLTNWY	7.0	3.0	-	-	3713_22:31644754-31644754 C>T_SVPAYFTSRDLFWCSECQDSLTNWY
19:8808421-8808421 C>T	0.0	3713	MELANOMA	-	-	-	-	ACTL9	ENST00000324436,p.G211S|uc002mkl.2,p.G211S|NM_178525,p.G211S	protein_coding	uc002mkl.2	nonsynonymous SNV	exon1	c.G631A	p.G211S	GHGVTYTVPVFQGYNLLHATERLDL	GHGVTYTVPVFQSYNLLHATERLDL	1.0	5.0	unscreened	-	3713_19:8808421-8808421 C>T_GHGVTYTVPVFQSYNLLHATERLDL
11:108594082-108594082 C>T	1.0	3713	MELANOMA	-	-	-	1	DDX10	uc001pkm.3,p.P620S|ENST00000526794,p.P620S|uc001pkl.1,p.P620S|ENST00000322536,p.P620S|NM_004398,p.P620S	retained_intron, protein_coding, processed_transcript	uc001pkm.3	nonsynonymous SNV	exon13	c.C1858T	p.P620S	PNTSEAQKIKEVPTQFLDRDEEEED	PNTSEAQKIKEVSTQFLDRDEEEED	7.0	2.0	-	-	3713_11:108594082-108594082 C>T_PNTSEAQKIKEVSTQFLDRDEEEED
10:15325930-15325930 G>A	1.0	3713	MELANOMA	-	-	-	-	FAM171A1	ENST00000378116,p.S91L|uc001iob.3,p.S91L|ENST00000455654,p.S91L|NM_001010924,p.S91L	protein_coding, processed_transcript	uc001iob.3	nonsynonymous SNV	exon2	c.C272T	p.S91L	QYKLGSQLIVTASKHAYVPNSAPWK	QYKLGSQLIVTALKHAYVPNSAPWK	2.0	7.0	unscreened	-	3713_10:15325930-15325930 G>A_QYKLGSQLIVTALKHAYVPNSAPWK
1:100353574-100353574 C>T	1.0	3713	MELANOMA	-	-	-	-	AGL	ENST00000294724,p.L908F|uc001dsn.1,p.L891F|NM_000642,p.L908F|uc001dsk.1,p.L908F|NM_000645,p.L891F|NM_000643,p.L908F|uc001dsi.1,p.L908F|ENST00000370165,p.L908F|ENST00000370163,p.L908F|ENST00000361915,p.L908F|ENST00000361522,p.L891F|uc001dsl.1,p.L908F|uc001dsj.1,p.L908F|NM_000646,p.L892F|NM_000028,p.L908F|ENST00000361302,p.L892F|uc001dsm.1,p.L892F|ENST00000370161,p.L892F|NM_000644,p.L908F	protein_coding, processed_transcript	uc001dsn.1	nonsynonymous SNV	exon19	c.C2671T	p.L891F	ASRLTLAELNQILYRCESEEKEDGG	ASRLTLAELNQIFYRCESEEKEDGG	4.0	8.0	-	-	3713_1:100353574-100353574 C>T_ASRLTLAELNQIFYRCESEEKEDGG
13:31821223-31821223 C>T	0.0	3713	MELANOMA	-	-	-	-	B3GALTL	NM_194318,p.P112S|uc010aaz.3,p.P112S|ENST00000343307,p.P112S	protein_coding, processed_transcript	uc010aaz.3	nonsynonymous SNV	exon5	c.C334T	p.P112S	QLAKQEGAWTILPLLPHFSVTYSRN	QLAKQEGAWTILSLLPHFSVTYSRN	3.0	2.0	unscreened	-	3713_13:31821223-31821223 C>T_QLAKQEGAWTILSLLPHFSVTYSRN
19:10675700-10675700 G>A	1.0	3713	MELANOMA	-	-	-	-	KRI1	uc002mox.1,p.P62L|ENST00000544397,p.P63L|ENST00000539027,p.P57L|ENST00000361821,p.P62L|ENST00000312962,p.P66L|uc002moy.1,p.P66L|NM_023008,p.P66L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002moy.1	nonsynonymous SNV	exon3	c.C197T	p.P66L	ESDSSDERVEFDPQQERDFYKTLSL	ESDSSDERVEFDLQQERDFYKTLSL	7.0	9.0	-	-	3713_19:10675700-10675700 G>A_ESDSSDERVEFDLQQERDFYKTLSL
22:21343966-21344002 GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA>-	0.0	3713	MELANOMA	-	-	-	1	LZTR1	uc002ztn.3,p.175_176del|ENST00000389355,p.197_198del|uc010gsr.1,p.87_88del|uc011ahy.2,p.197_198del|uc002zto.3,p.216_217del|NM_006767,p.216_217del|ENST00000215739,p.216_217del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ahy.2	nonframeshift deletion	exon6	c.589_594del	p.197_198del	TIGLQDRELTCWEEVAQSGEIPPSC	TIGLQDRELTCWVAQSGEIPPSCCN	10.0	1.0	unscreened	-	3713_22:21343966-21344002 GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA>-_TIGLQDRELTCWVAQSGEIPPSCCN
19:21605951-21605951 C>T	1.0	3713	MELANOMA	-	-	-	-	ZNF493	ENST00000392288,p.H164Y|uc002npw.3,p.H164Y|uc002npy.3,p.H36Y|ENST00000355504,p.H36Y|NM_001076678,p.H164Y|NM_175910,p.H36Y|uc002npx.3,p.H36Y|uc021urq.1,p.H36Y	retained_intron, protein_coding, nonsense_mediated_decay	uc021urq.1	nonsynonymous SNV	exon1	c.C106T	p.H36Y	KIFQCDKYVKVFHKLLNSNRHNTKH	KIFQCDKYVKVFYKLLNSNRHNTKH	6.0	10.0	unscreened	-	3713_19:21605951-21605951 C>T_KIFQCDKYVKVFYKLLNSNRHNTKH
1:157665275-157665275 G>A	0.0	3713	MELANOMA	-	-	-	-	FCRL3	ENST00000477837,p.H324Y|uc001frb.3,p.H419Y|uc001fqz.4,p.H419Y|ENST00000368186,p.H419Y|ENST00000492769,p.H425Y|ENST00000485028,p.H419Y|uc001fra.3,p.H145Y|NM_052939,p.H419Y|ENST00000368184,p.H419Y|uc001frc.1,p.H419Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc001frc.1	nonsynonymous SNV	exon8	c.C1255T	p.H419Y	LRGSPPILYRFYHEDVTLGNSSAPS	LRGSPPILYRFYYEDVTLGNSSAPS	5.0	1.0	unscreened	-	3713_1:157665275-157665275 G>A_LRGSPPILYRFYYEDVTLGNSSAPS
16:31382660-31382660 G>A	0.0	3713	MELANOMA	-	-	-	-	ITGAX	uc002ebt.3,p.R616K|uc002ebu.1,p.R616K|ENST00000268296,p.R616K|ENST00000562522,p.R616K|NM_001286375,p.R616K|NM_000887,p.R616K	retained_intron, protein_coding, processed_transcript	uc002ebu.1	nonsynonymous SNV	exon16	c.G1847A	p.R616K	VGARGQVLLLRTRPVLWVGVSMQFI	VGARGQVLLLRTKPVLWVGVSMQFI	8.0	1.0	unscreened	-	3713_16:31382660-31382660 G>A_VGARGQVLLLRTKPVLWVGVSMQFI
10:21141544-21141544 C>T	1.0	3713	MELANOMA	-	-	ID=COSM1675091;OCCURENCE=2(haematopoietic_and_lymphoid_tissue)	-	NEBL	uc001iqi.3,p.G313E|ENST00000377122,p.G313E|NM_006393,p.G313E	retained_intron, protein_coding, processed_transcript	uc001iqi.3	nonsynonymous SNV	exon10	c.G938A	p.G313E	GREYKKLFEENKGMYHFDADAVEHL	GREYKKLFEENKEMYHFDADAVEHL	1.0	5.0	unscreened	-	3713_10:21141544-21141544 C>T_GREYKKLFEENKEMYHFDADAVEHL
5:61826582-61826582 C>T	1.0	3713	MELANOMA	-	-	-	-	IPO11	ENST00000409296,p.R727C|uc011cqr.2,p.R727C|NM_016338,p.R687C|ENST00000325324,p.R687C|uc003jtc.3,p.R687C|ENST00000424533,p.R687C|NM_001134779,p.R727C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cqr.2	nonsynonymous SNV	exon22	c.C2179T	p.R727C	LENSPCITPELLRIFQNMSPLLELS	LENSPCITPELLCIFQNMSPLLELS	8.0	2.0	-	-	3713_5:61826582-61826582 C>T_LENSPCITPELLCIFQNMSPLLELS
4:113351652-113351652 C>T	1.0	3713	MELANOMA	-	-	-	-	ALPK1	uc011cfx.2,p.P239S|uc010imo.3,p.P145S|NM_001102406,p.P317S|ENST00000504176,p.P239S|NM_025144,p.P317S|ENST00000458497,p.P317S|uc003iap.4,p.P317S|ENST00000177648,p.P317S|uc003ian.4,p.P317S|NM_001253884,p.P239S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cfx.2	nonsynonymous SNV	exon10	c.C715T	p.P239S	TCLLSYSSSNDCPPELKNLHLCEAK	TCLLSYSSSNDCSPELKNLHLCEAK	7.0	4.0	unscreened	-	3713_4:113351652-113351652 C>T_TCLLSYSSSNDCSPELKNLHLCEAK
17:76533440-76533440 C>T	0.0	3713	MELANOMA	-	-	-	-	DNAH17	NM_173628,p.D934N|ENST00000389840,p.D934N|ENST00000585328,p.D931N|uc010dhp.2,p.D934N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dhp.2	nonsynonymous SNV	exon19	c.G2800A	p.D934N	RGFLALIEGLVNDIYNVARLIPRLA	RGFLALIEGLVNNIYNVARLIPRLA	1.0	9.0	unscreened	-	3713_17:76533440-76533440 C>T_RGFLALIEGLVNNIYNVARLIPRLA
11:88780928-88780928 C>T	0.0	3713	MELANOMA	-	-	-	-	GRM5	ENST00000393297,p.G38E|uc009yvm.3,p.G38E|NM_001143831,p.G38E|ENST00000305432,p.G38E|ENST00000418177,p.G38E|uc001pcq.3,p.G38E|ENST00000393294,p.G38E|ENST00000305447,p.G38E|uc009yvn.2,p.G38E|ENST00000455756,p.G38E|NM_000842,p.G38E	protein_coding	uc009yvn.2	nonsynonymous SNV	exon2	c.G113A	p.G38E	RVVAHMPGDIIIGALFSVHHQPTVD	RVVAHMPGDIIIEALFSVHHQPTVD	1.0	7.0	unscreened	-	3713_11:88780928-88780928 C>T_RVVAHMPGDIIIEALFSVHHQPTVD
16:31476373-31476373 C>T	1.0	3713	MELANOMA	-	-	ID=COSN160428;OCCURENCE=1(NS)	-	ARMC5	NM_024742,p.P677S|uc002eca.4,p.P677S|ENST00000457010,p.P677S	retained_intron, protein_coding, nonsense_mediated_decay	uc002eca.4	nonsynonymous SNV	exon4	c.C2029T	p.P677S	SPEWGGEQGVPVPPWAHRQSSAVSS	SPEWGGEQGVPVSPWAHRQSSAVSS	4.0	2.0	-	-	3713_16:31476373-31476373 C>T_SPEWGGEQGVPVSPWAHRQSSAVSS
5:167517696-167517696 G>A	0.0	3713	MELANOMA	-	-	-	-	TENM2	uc003lzr.5,p.D313N|uc003lzq.3,p.D424N|ENST00000545108,p.D545N|ENST00000518659,p.D545N|ENST00000403607,p.D378N|ENST00000519204,p.D424N|ENST00000520394,p.D313N|uc010jjd.3,p.D545N|NM_001122679,p.D545N	retained_intron, protein_coding, processed_transcript	uc010jjd.3	nonsynonymous SNV	exon8	c.G1633A	p.D545N	LVQNEAVFVQYLDVGLWHLAFYNDG	LVQNEAVFVQYLNVGLWHLAFYNDG	1.0	7.0	unscreened	-	3713_5:167517696-167517696 G>A_LVQNEAVFVQYLNVGLWHLAFYNDG
11:66192370-66192370 C>T	1.0	3713	MELANOMA	-	-	-	-	NPAS4	NM_178864,p.S670F|uc001ohx.1,p.S670F|uc010rpc.1,p.S460F|ENST00000311034,p.S670F	retained_intron, protein_coding, nonsense_mediated_decay	uc010rpc.1	nonsynonymous SNV	exon6	c.C1379T	p.S460F	GLEPLGGLEPLDSNLSLSGAGPPVL	GLEPLGGLEPLDFNLSLSGAGPPVL	1.0	8.0	unscreened	-	3713_11:66192370-66192370 C>T_GLEPLGGLEPLDFNLSLSGAGPPVL
9:131023069-131023069 G>A	1.0	3713	MELANOMA	-	-	-	-	GOLGA2	uc011maw.2,p.P451L|ENST00000421699,p.P451L|NM_004486,p.P451L	retained_intron, protein_coding	uc011maw.2	nonsynonymous SNV	exon17	c.C1352T	p.P451L	LAELRNQMAEPPPPEPPAGPSEVEQ	LAELRNQMAEPPLPEPPAGPSEVEQ	10.0	9.0	unscreened	-	3713_9:131023069-131023069 G>A_LAELRNQMAEPPLPEPPAGPSEVEQ
1:248039565-248039565 G>A	1.0	3713	MELANOMA	-	-	-	-	TRIM58	ENST00000366481,p.G412E|NM_015431,p.G412E|uc001ido.3,p.G412E	protein_coding	uc001ido.3	nonsynonymous SNV	exon6	c.G1235A	p.G412E	VPLLQLESPRCIGIFLDYEAGEISF	VPLLQLESPRCIEIFLDYEAGEISF	1.0	8.0	unscreened	-	3713_1:248039565-248039565 G>A_VPLLQLESPRCIEIFLDYEAGEISF
2:95847301-95847301 C>T	1.0	3713	MELANOMA	-	-	-	-	ZNF2	NM_001017396,p.S201L|uc002sug.3,p.S201L|NM_001282398,p.S205L|uc002suf.3,p.S243L|NM_001291605,p.S256L|NM_021088,p.S243L|NM_001291604,p.S163L	protein_coding	uc002sug.3	nonsynonymous SNV	exon4	c.C602T	p.S201L	CSVCSKAFFDRSSLTVHQRIHTGEK	CSVCSKAFFDRSLLTVHQRIHTGEK	3.0	10.0	unscreened	-	3713_2:95847301-95847301 C>T_CSVCSKAFFDRSLLTVHQRIHTGEK
20:10019289-10019289 G>A	1.0	3713	MELANOMA	-	-	-	-	ANKEF1	ENST00000378380,p.G114R|ENST00000378392,p.G114R|uc002wnp.3,p.G114R|NM_198798,p.G114R|uc002wno.3,p.G114R|NM_022096,p.G114R	protein_coding, processed_transcript	uc002wnp.3	nonsynonymous SNV	exon2	c.G340A	p.G114R	KAKADMTIVDNEGKGVLFYCILPTK	KAKADMTIVDNERKGVLFYCILPTK	1.0	7.0	unscreened	-	3713_20:10019289-10019289 G>A_KAKADMTIVDNERKGVLFYCILPTK
1:65124467-65124467 C>T	1.0	3713	MELANOMA	-	-	-	-	CACHD1	ENST00000371073,p.T621I|uc001dbo.1,p.T570I|NM_020925,p.T570I|uc001dbq.1,p.T325I|uc001dbp.1,p.T325I|ENST00000290039,p.T570I|NM_001293274,p.T325I	retained_intron, protein_coding, processed_transcript	uc001dbq.1	nonsynonymous SNV	exon13	c.C974T	p.T325I	PEIPVKQLKNLNTVPSSKLLYHRLD	PEIPVKQLKNLNIVPSSKLLYHRLD	3.0	10.0	unscreened	-	3713_1:65124467-65124467 C>T_PEIPVKQLKNLNIVPSSKLLYHRLD
1:158608019-158608019 C>T	1.0	3713	MELANOMA	-	-	-	-	SPTA1	ENST00000368148,p.D1665N|NM_003126,p.D1665N|ENST00000368147,p.D1665N|uc001fst.1,p.D1665N	protein_coding, processed_transcript	uc001fst.1	nonsynonymous SNV	exon36	c.G4993A	p.D1665N	EREMLAREDALKDLNTLAEDLLSSG	EREMLAREDALKNLNTLAEDLLSSG	6.0	6.0	unscreened	-	3713_1:158608019-158608019 C>T_EREMLAREDALKNLNTLAEDLLSSG
1:92554346-92554346 C>T	1.0	3713	MELANOMA	-	-	-	-	BTBD8	uc031pnb.1,p.P81S|ENST00000540648,p.P81S|NM_183242,p.P81S|ENST00000370382,p.P81S|ENST00000342818,p.P81S|uc001doo.3,p.P81S	protein_coding	uc031pnb.1	nonsynonymous SNV	exon2	c.C241T	p.P81S	FKAHKAVLLARVPDFYFHTIGQTSN	FKAHKAVLLARVSDFYFHTIGQTSN	1.0	8.0	unscreened	-	3713_1:92554346-92554346 C>T_FKAHKAVLLARVSDFYFHTIGQTSN
4:176622798-176622798 C>T	0.0	3713	MELANOMA	-	-	ID=COSM138467;OCCURENCE=1(skin)	-	GPM6A	ENST00000513365,p.G53E|NM_201592,p.G42E|NM_201591,p.G53E|uc003iuf.4,p.G53E|NM_001261448,p.G46E|uc003iuh.4,p.G42E|ENST00000515090,p.G46E|ENST00000280187,p.G53E|ENST00000393658,p.G53E|ENST00000506894,p.G42E|ENST00000505304,p.G46E|ENST00000503397,p.G45E|uc003iug.4,p.G53E|uc011ckj.2,p.G46E|NM_005277,p.G53E	retained_intron, protein_coding, processed_transcript	uc011ckj.2	nonsynonymous SNV	exon2	c.G137A	p.G46E	ALFCGCGHEALSGTVNILQTYFEMA	ALFCGCGHEALSETVNILQTYFEMA	3.0	9.0	unscreened	-	3713_4:176622798-176622798 C>T_ALFCGCGHEALSETVNILQTYFEMA
18:56204277-56204277 C>T	1.0	3713	MELANOMA	-	-	-	-	ALPK2	uc002lhk.1,p.V379I|ENST00000361673,p.V1048I|NM_052947,p.V1048I|uc002lhj.4,p.V1048I	retained_intron, protein_coding, processed_transcript	uc002lhk.1	nonsynonymous SNV	exon1	c.G1135A	p.V379I	TEERFPRASHEKVSQFPSQVQLDHI	TEERFPRASHEKISQFPSQVQLDHI	1.0	8.0	-	-	3713_18:56204277-56204277 C>T_TEERFPRASHEKISQFPSQVQLDHI
11:4976622-4976622 C>T	0.0	3713	MELANOMA	-	-	-	-	OR51A2	ENST00000380371,p.G108R|NM_001004748,p.G108R|uc010qyt.2,p.G108R	protein_coding	uc010qyt.2	nonsynonymous SNV	exon1	c.G322A	p.G108R	SSACFAQEFFIHGFSVLESSVLLIM	SSACFAQEFFIHRFSVLESSVLLIM	1.0	10.0	unscreened	-	3713_11:4976622-4976622 C>T_SSACFAQEFFIHRFSVLESSVLLIM
11:46391078-46391078 C>T	1.0	3713	MELANOMA	-	-	-	-	DGKZ	NM_001199268,p.S160L|uc010rgq.2,p.S165L|ENST00000318201,p.S160L|uc010rgs.1,p.S160L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rgs.1	nonsynonymous SNV	exon5	c.C479T	p.S160L	KINFRCKPSFRESGSRNVREGFQQK	KINFRCKPSFRELGSRNVREGFQQK	8.0	7.0	unscreened	-	3713_11:46391078-46391078 C>T_KINFRCKPSFRELGSRNVREGFQQK
1:225190487-225190487 C>T	0.0	3713	MELANOMA	-	-	-	-	DNAH14	uc001hot.4,p.S255L|NM_001145154,p.S278L|ENST00000439375,p.S278L|ENST00000366849,p.S255L|uc001how.2,p.S278L|uc001hou.4,p.S278L|ENST00000430092,p.S278L|NM_001373,p.S278L|ENST00000400952,p.S278L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001how.2	nonsynonymous SNV	exon9	c.C833T	p.S278L	LNVKRIKTEKSRSFLYHHLFLADDL	LNVKRIKTEKSRLFLYHHLFLADDL	5.0	4.0	unscreened	-	3713_1:225190487-225190487 C>T_LNVKRIKTEKSRLFLYHHLFLADDL
5:82837721-82837721 G>A	0.0	3713	MELANOMA	-	-	-	-	VCAN	uc003kij.3,p.E1980K|uc003kii.3,p.E2967K|ENST00000265077,p.E2967K|uc003kil.3,p.E1631K|NM_004385,p.E2967K|ENST00000343200,p.E1980K|NM_001164097,p.E1980K	retained_intron, protein_coding, processed_transcript	uc003kil.3	nonsynonymous SNV	exon1	c.G4891A	p.E1631K	EAGTVITTADEIELEGATQWPHSTS	EAGTVITTADEIKLEGATQWPHSTS	7.0	7.0	unscreened	-	3713_5:82837721-82837721 G>A_EAGTVITTADEIKLEGATQWPHSTS
12:106460633-106460633 C>T	1.0	3713	MELANOMA	-	-	-	-	NUAK1	uc001tlj.1,p.D645N|ENST00000261402,p.D645N|NM_014840,p.D645N	protein_coding	uc001tlj.1	nonsynonymous SNV	exon7	c.G1933A	p.D645N	ADSSFSLLTDMDDVTQVYKQALEIC	ADSSFSLLTDMDNVTQVYKQALEIC	4.0	6.0	unscreened	-	3713_12:106460633-106460633 C>T_ADSSFSLLTDMDNVTQVYKQALEIC
15:52350895-52350895 C>T	1.0	3713	MELANOMA	-	-	ID=COSM1373473;OCCURENCE=1(large_intestine)	-	MAPK6	NM_002748,p.R256C|ENST00000261845,p.R256C|uc002abp.3,p.R256C	protein_coding, processed_transcript	uc002abp.3	nonsynonymous SNV	exon4	c.C766T	p.R256C	ILESIPVVHEEDRQELLSVIPVYIR	ILESIPVVHEEDCQELLSVIPVYIR	8.0	1.0	-	-	3713_15:52350895-52350895 C>T_ILESIPVVHEEDCQELLSVIPVYIR
17:70119866-70119866 G>A	1.0	3713	MELANOMA	-	-	-	-	SOX9	NM_000346,p.D290N|ENST00000245479,p.D290N|uc002jiw.3,p.D290N	protein_coding	uc002jiw.3	nonsynonymous SNV	exon3	c.G868A	p.D290N	LSSDVISNIETFDVNEFDQYLPPNG	LSSDVISNIETFNVNEFDQYLPPNG	2.0	2.0	-	-	3713_17:70119866-70119866 G>A_LSSDVISNIETFNVNEFDQYLPPNG
12:6666553-6666553 G>A	1.0	3713	MELANOMA	-	-	-	-	NOP2	NM_001258309,p.P715L|ENST00000382421,p.P715L|ENST00000322166,p.P682L|ENST00000541778,p.P678L|ENST00000399466,p.P678L|uc021qua.2,p.P682L|NM_001033714,p.P678L|uc021qtz.2,p.P715L|uc021qtx.2,p.P678L|NM_001258308,p.P682L|ENST00000537442,p.P682L|NM_006170,p.P678L|uc021qtw.2,p.P678L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qua.2	nonsynonymous SNV	exon16	c.C2045T	p.P682L	TQASSSFQDSSQPAGKAEGIREPKV	TQASSSFQDSSQLAGKAEGIREPKV	9.0	6.0	-	-	3713_12:6666553-6666553 G>A_TQASSSFQDSSQLAGKAEGIREPKV
6:128643269-128643269 G>A	1.0	3713	MELANOMA	-	-	-	1	PTPRK	ENST00000368226,p.P137L|ENST00000368227,p.P137L|ENST00000368213,p.P137L|uc003qbj.3,p.P137L|NM_001291982,p.P137L|NM_001135648,p.P137L|uc010kfc.3,p.P137L|ENST00000368207,p.P137L|NM_001291984,p.P137L|ENST00000368210,p.P137L|ENST00000532331,p.P137L|uc011ebv.1,p.P137L|uc011ebu.2,p.P137L|NM_002844,p.P137L|uc003qbk.3,p.P137L|NM_001291981,p.P137L|uc003qbm.4,p.P66L|ENST00000368215,p.P137L|ENST00000525459,p.P137L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ebv.1	nonsynonymous SNV	exon3	c.C410T	p.P137L	ILVRVNKGPLANPIWNVTGFTGRDW	ILVRVNKGPLANLIWNVTGFTGRDW	1.0	9.0	unscreened	-	3713_6:128643269-128643269 G>A_ILVRVNKGPLANLIWNVTGFTGRDW
7:94935641-94935641 G>A	0.0	3713	MELANOMA	-	-	ID=COSM3833530;OCCURENCE=1(breast)	-	PON1	uc011kih.2,p.H246Y|uc003uns.3,p.H246Y|ENST00000222381,p.H246Y|NM_000446,p.H246Y|ENST00000542556,p.H246Y	retained_intron, protein_coding, nonsense_mediated_decay	uc011kih.2	nonsynonymous SNV	exon7	c.C736T	p.H246Y	YVYIAELLAHKIHVYEKHANWTLTP	YVYIAELLAHKIYVYEKHANWTLTP	1.0	8.0	unscreened	-	3713_7:94935641-94935641 G>A_YVYIAELLAHKIYVYEKHANWTLTP
X:19606777-19606777 G>A	1.0	3713	MELANOMA	-	-	-	-	SH3KBP1	ENST00000379697,p.P472S	protein_coding, processed_transcript	ENST00000379697	nonsynonymous SNV	exon14	c.C1414T	p.P472S	ALPPRRPERPVGPLTHTRYCCALTS	ALPPRRPERPVGSLTHTRYCCALTS	8.0	7.0	unscreened	-	3713_X:19606777-19606777 G>A_ALPPRRPERPVGSLTHTRYCCALTS
5:37244545-37244545 C>T	1.0	3713	MELANOMA	-	-	-	-	C5orf42	NM_023073,p.E168K|ENST00000425232,p.E168K|uc011cpa.1,p.E168K|ENST00000508244,p.E168K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cpa.1	nonsynonymous SNV	exon5	c.G502A	p.E168K	SLAGRWSQVIPEEAVLLPSTEDKEA	SLAGRWSQVIPEKAVLLPSTEDKEA	6.0	3.0	unscreened	-	3713_5:37244545-37244545 C>T_SLAGRWSQVIPEKAVLLPSTEDKEA
13:32366863-32366863 A>T	0.0	3713	MELANOMA	-	-	-	-	RXFP2	NM_130806,p.D475V|ENST00000380314,p.D451V|ENST00000298386,p.D475V|NM_001166058,p.D451V|uc001utt.3,p.D475V|uc010aba.3,p.D451V	protein_coding	uc010aba.3	nonsynonymous SNV	exon15	c.A1352T	p.D451V	LMGVYLFFVGIFDIKYRGQYQKYAL	LMGVYLFFVGIFVIKYRGQYQKYAL	1.0	3.0	unscreened	-	3713_13:32366863-32366863 A>T_LMGVYLFFVGIFVIKYRGQYQKYAL
9:95483028-95483028 C>T	1.0	3713	MELANOMA	-	-	-	-	BICD2	NM_001003800,p.E206K|uc004asp.1,p.E206K|ENST00000356884,p.E206K|NM_015250,p.E206K|uc004aso.1,p.E206K|ENST00000375512,p.E206K	protein_coding	uc004asp.1	nonsynonymous SNV	exon4	c.G616A	p.E206K	QVSVLRQNQVEFEGLKHEIKRLEEE	QVSVLRQNQVEFKGLKHEIKRLEEE	7.0	10.0	-	-	3713_9:95483028-95483028 C>T_QVSVLRQNQVEFKGLKHEIKRLEEE
1:79385897-79385897 G>A	0.0	3713	MELANOMA	-	-	-	-	ELTD1	uc001diq.4,p.L478F|NM_022159,p.L478F|ENST00000370742,p.L478F	protein_coding	uc001diq.4	nonsynonymous SNV	exon10	c.C1432T	p.L478F	LCCSLFLAELVFLVGINTNTNKLFC	LCCSLFLAELVFFVGINTNTNKLFC	3.0	1.0	unscreened	-	3713_1:79385897-79385897 G>A_LCCSLFLAELVFFVGINTNTNKLFC
5:143853232-143853232 C>T	0.0	3713	MELANOMA	-	-	-	-	KCTD16	uc003lnm.1,p.S281F|uc003lnn.1,p.S281F|NM_020768,p.S281F|ENST00000507359,p.S281F|ENST00000512467,p.S281F	protein_coding	uc003lnn.1	nonsynonymous SNV	exon3	c.C842T	p.S281F	SSYTEYVFYREPSRWSPSHCDCCCK	SSYTEYVFYREPFRWSPSHCDCCCK	1.0	2.0	unscreened	-	3713_5:143853232-143853232 C>T_SSYTEYVFYREPFRWSPSHCDCCCK
4:187557352-187557352 G>A	1.0	3713	MELANOMA	-	-	-	1	FAT1	uc003izf.3,p.S1337L|ENST00000441802,p.S1337L|NM_005245,p.S1337L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003izf.3	nonsynonymous SNV	exon6	c.C4010T	p.S1337L	IKAVDNGRPQKSSTTRLHIEWISKP	IKAVDNGRPQKSLTTRLHIEWISKP	8.0	6.0	-	-	3713_4:187557352-187557352 G>A_IKAVDNGRPQKSLTTRLHIEWISKP
19:21909931-21909931 G>A	1.0	3713	MELANOMA	-	-	-	-	ZNF100	uc002nqh.3,p.H331Y|ENST00000358296,p.H395Y|NM_173531,p.H395Y|uc002nqi.3,p.H395Y|ENST00000305570,p.H331Y	protein_coding, processed_transcript	uc002nqi.3	nonsynonymous SNV	exon5	c.C1183T	p.H395Y	YRFSYLTKHKTSHTGEKFYKCEECG	YRFSYLTKHKTSYTGEKFYKCEECG	5.0	10.0	unscreened	-	3713_19:21909931-21909931 G>A_YRFSYLTKHKTSYTGEKFYKCEECG
2:103120126-103120126 T>G	0.0	3713	MELANOMA	-	-	-	-	SLC9A4	NM_001011552,p.Y314D|ENST00000295269,p.Y314D|uc002tbz.4,p.Y314D	retained_intron, protein_coding	uc002tbz.4	nonsynonymous SNV	exon3	c.T940G	p.Y314D	EPLIVFMFSYLSYLAAETLYLSGIL	EPLIVFMFSYLSDLAAETLYLSGIL	1.0	8.0	unscreened	-	3713_2:103120126-103120126 T>G_EPLIVFMFSYLSDLAAETLYLSGIL
5:138715028-138715028 G>A	0.0	3713	MELANOMA	-	-	-	-	SLC23A1	NM_152685,p.P318L|uc003leg.3,p.P318L|ENST00000353963,p.P318L|NM_005847,p.P314L|uc003leh.3,p.P314L|ENST00000348729,p.P314L	retained_intron, protein_coding, processed_transcript	uc003leh.3	nonsynonymous SNV	exon9	c.C941T	p.P314L	WIRIPYPCQWGLPTVTAAAVLGMFS	WIRIPYPCQWGLLTVTAAAVLGMFS	1.0	9.0	unscreened	-	3713_5:138715028-138715028 G>A_WIRIPYPCQWGLLTVTAAAVLGMFS
6:42227098-42227098 G>A	1.0	3713	MELANOMA	-	-	-	-	TRERF1	NM_001297574,p.R770W|ENST00000354325,p.R667W|ENST00000340840,p.R667W|uc003ose.2,p.R770W|uc003osb.2,p.R506W|uc003osc.2,p.R506W|ENST00000541110,p.R770W|uc003osd.2,p.R750W|ENST00000372922,p.R750W|ENST00000372917,p.R667W|uc011duq.1,p.R667W|NM_033502,p.R750W|NM_001297573,p.R770W	protein_coding	uc011duq.1	nonsynonymous SNV	exon4	c.C1999T	p.R667W	PQLPLTPLTPTPRVLLCRSNSIDGS	PQLPLTPLTPTPWVLLCRSNSIDGS	3.0	10.0	unscreened	-	3713_6:42227098-42227098 G>A_PQLPLTPLTPTPWVLLCRSNSIDGS
12:130647498-130647498 C>T	0.0	3713	MELANOMA	-	-	-	-	FZD10	ENST00000229030,p.P4L|uc001uii.3,p.P4L|NM_007197,p.P4L	protein_coding	uc001uii.3	nonsynonymous SNV	exon1	c.C11T	p.P4L	MQRPGPRLWLVLQVMG	MQRLGPRLWLVLQVMG	1.0	1.0	unscreened	-	3713_12:130647498-130647498 C>T_MQRLGPRLWLVLQVMG
5:157181932-157181932 C>T	1.0	3713	MELANOMA	-	-	-	-	LSM11	ENST00000286307,p.S248F|uc003lxe.1,p.S248F|NM_173491,p.S248F	protein_coding	uc003lxe.1	nonsynonymous SNV	exon4	c.C743T	p.S248F	KKEADSKSAVEDSTLSRYSQTSTWK	KKEADSKSAVEDFTLSRYSQTSTWK	3.0	10.0	unscreened	-	3713_5:157181932-157181932 C>T_KKEADSKSAVEDFTLSRYSQTSTWK
17:8222200-8222200 G>A	0.0	3713	MELANOMA	-	-	-	-	ARHGEF15	uc010vuw.2,p.D558N|ENST00000421050,p.D669N|NM_173728,p.D669N|uc002glc.3,p.D669N|NM_025014,p.D669N|ENST00000361926,p.D669N|uc002gld.3,p.D669N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vuw.2	nonsynonymous SNV	exon10	c.G1672A	p.D558N	PRFTPLCLLLFSDLLLITQPKSGQR	PRFTPLCLLLFSNLLLITQPKSGQR	2.0	10.0	unscreened	-	3713_17:8222200-8222200 G>A_PRFTPLCLLLFSNLLLITQPKSGQR
1:204410630-204410630 G>A	0.0	3713	MELANOMA	-	-	-	-	PIK3C2B	uc010pqv.2,p.P1045L|ENST00000367187,p.P1073L|NM_002646,p.P1073L|ENST00000424712,p.P1045L|uc001haw.3,p.P1073L	protein_coding, processed_transcript	uc010pqv.2	nonsynonymous SNV	exon23	c.C3134T	p.P1045L	AVPLKLSFQNVDPLGENIRVIFKCG	AVPLKLSFQNVDLLGENIRVIFKCG	8.0	1.0	unscreened	-	3713_1:204410630-204410630 G>A_AVPLKLSFQNVDLLGENIRVIFKCG
9:43861084-43861084 C>T	0.0	3713	MELANOMA	-	-	-	-	CNTNAP3B	uc004ada.2,p.S653L|ENST00000377564,p.S653L|ENST00000479351,p.S560L|NM_001201380,p.S653L	protein_coding, processed_transcript, nonsense_mediated_decay	uc004ada.2	nonsynonymous SNV	exon13	c.C1958T	p.S653L	VTLRGAPSGHPLSAVSFAYAAGAGQ	VTLRGAPSGHPLLAVSFAYAAGAGQ	1.0	2.0	unscreened	-	3713_9:43861084-43861084 C>T_VTLRGAPSGHPLLAVSFAYAAGAGQ
11:66372873-66372873 G>T	1.0	3713	MELANOMA	-	-	-	-	CCS	ENST00000530961,p.R246S	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000530961	nonsynonymous SNV	exon6	c.G738T	p.R246S	VLMLTAAPSSEWRMSS	VLMLTAAPSSEWSMSS	9.0	10.0	unscreened	-	3713_11:66372873-66372873 G>T_VLMLTAAPSSEWSMSS
18:12493128-12493128 T>C	1.0	3713	MELANOMA	-	-	-	-	SPIRE1	uc002kre.3,p.K378E|ENST00000383356,p.K219E|NM_001128627,p.K258E|ENST00000440472,p.K219E|NM_020148,p.K378E|ENST00000309836,p.K181E|ENST00000453447,p.K258E|uc010wzw.2,p.K258E|ENST00000409402,p.K378E|ENST00000410092,p.K378E|uc010wzx.2,p.K181E|NM_001128626,p.K378E|uc010wzy.2,p.K378E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wzy.2	nonsynonymous SNV	exon8	c.A1132G	p.K378E	PRSLHERILEEIKAERKLRPVSPEE	PRSLHERILEEIEAERKLRPVSPEE	7.0	9.0	-	-	3713_18:12493128-12493128 T>C_PRSLHERILEEIEAERKLRPVSPEE
2:171793185-171793185 C>T	0.0	3713	MELANOMA	-	-	-	-	GORASP2	ENST00000452526,p.P16L|uc010zdl.2,p.P16L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zdl.2	nonsynonymous SNV	exon2	c.C47T	p.P16L	GSSTLSEIRKLKPGIMVCTCNPSYS	GSSTLSEIRKLKLGIMVCTCNPSYS	8.0	9.0	unscreened	-	3713_2:171793185-171793185 C>T_GSSTLSEIRKLKLGIMVCTCNPSYS
10:61412679-61412679 C>T	0.0	3713	MELANOMA	-	-	-	-	SLC16A9	NM_194298,p.D461N|ENST00000395347,p.D461N|ENST00000395348,p.D461N|uc010qig.1,p.D461N	protein_coding	uc010qig.1	nonsynonymous SNV	exon6	c.G1381A	p.D461N	IVGWFYDWTQTYDIAFYFSGFCVLL	IVGWFYDWTQTYNIAFYFSGFCVLL	1.0	9.0	unscreened	-	3713_10:61412679-61412679 C>T_IVGWFYDWTQTYNIAFYFSGFCVLL
1:111742318-111742318 A>G	0.0	3713	MELANOMA	-	-	-	-	DENND2D	ENST00000369752,p.L54P|uc001eal.2,p.L54P|ENST00000357640,p.L57P|NM_001271833,p.L54P|uc001eak.2,p.L57P|NM_024901,p.L57P	protein_coding, processed_transcript	uc001eal.2	nonsynonymous SNV	exon2	c.T161C	p.L54P	PNFAGGQHFFEYLLVVSLKKKRSED	PNFAGGQHFFEYPLVVSLKKKRSED	7.0	10.0	unscreened	-	3713_1:111742318-111742318 A>G_PNFAGGQHFFEYPLVVSLKKKRSED
19:57723658-57723658 C>T	1.0	3713	MELANOMA	-	-	-	-	ZNF264	uc002qob.3,p.P398L|NM_003417,p.P398L|ENST00000536056,p.P398L|ENST00000263095,p.P398L	protein_coding	uc002qob.3	nonsynonymous SNV	exon4	c.C1193T	p.P398L	LIHHYVIHTGEKPFECLECGKAFNH	LIHHYVIHTGEKLFECLECGKAFNH	3.0	10.0	unscreened	-	3713_19:57723658-57723658 C>T_LIHHYVIHTGEKLFECLECGKAFNH
1:21226222-21226222 G>A	1.0	3713	MELANOMA	-	-	-	-	EIF4G3	ENST00000264211,p.S600F|NM_003760,p.S600F|uc010odi.2,p.S204F|NM_001198801,p.S599F|ENST00000374937,p.S606F|NM_001198802,p.S606F|ENST00000374935,p.S320F|ENST00000400422,p.S600F|uc001bee.3,p.S606F|ENST00000602326,p.S606F|ENST00000536266,p.S204F|uc009vpz.3,p.S320F|uc001bec.3,p.S600F|ENST00000544689,p.S143F|ENST00000537738,p.S53F|uc001bef.3,p.S599F|uc010odj.2,p.S599F	protein_coding, processed_transcript	uc010odj.2	nonsynonymous SNV	exon10	c.C1796T	p.S599F	EGIDANSGSTDSSGDGVTFPFKPES	EGIDANSGSTDSFGDGVTFPFKPES	7.0	9.0	-	-	3713_1:21226222-21226222 G>A_EGIDANSGSTDSFGDGVTFPFKPES
1:53287176-53287176 C>T	1.0	3713	MELANOMA	-	-	-	-	ZYG11B	NM_024646,p.H704Y|uc010onj.2,p.H625Y|ENST00000294353,p.H704Y|uc001cuj.3,p.H704Y|uc009vzh.3,p.H126Y|ENST00000443756,p.H634Y	protein_coding	uc010onj.2	nonsynonymous SNV	exon12	c.C1873T	p.H625Y	EGGLQHLYNIKDHEHTDPHVQQIAV	EGGLQHLYNIKDYEHTDPHVQQIAV	6.0	1.0	-	-	3713_1:53287176-53287176 C>T_EGGLQHLYNIKDYEHTDPHVQQIAV
20:9402041-9402041 G>A	1.0	3713	MELANOMA	-	-	ID=COSM1029364;OCCURENCE=2(endometrium)	-	PLCB4	ENST00000378493,p.R739Q|ENST00000378473,p.R751Q|uc021wal.1,p.R739Q|uc010gbx.3,p.R751Q|ENST00000414679,p.R751Q|uc002wnh.3,p.R586Q|ENST00000378501,p.R739Q|ENST00000334005,p.R739Q|uc010gbw.1,p.R739Q|NM_001172646,p.R751Q|NM_182797,p.R739Q|NM_000933,p.R739Q|ENST00000278655,p.R739Q|uc021wam.1,p.R739Q	protein_coding, processed_transcript	uc021wam.1	nonsynonymous SNV	exon23	c.G2216A	p.R739Q	YGLPTDTIRKEFRTRMVMNNGLNPV	YGLPTDTIRKEFQTRMVMNNGLNPV	1.0	9.0	-	-	3713_20:9402041-9402041 G>A_YGLPTDTIRKEFQTRMVMNNGLNPV
19:21132426-21132426 C>T	1.0	3713	MELANOMA	-	-	-	-	ZNF85	uc002npg.4,p.P369L|NM_003429,p.P369L|NM_001256171,p.P399L|uc010eco.3,p.P317L|ENST00000596534,p.P317L|uc002npi.3,p.P310L|ENST00000328178,p.P369L|uc010ecn.3,p.P304L|uc031rjy.1,p.P305L|ENST00000345030,p.P336L|ENST00000601023,p.P310L|uc031rjx.1,p.P399L|NM_001256173,p.P305L	protein_coding	uc031rjy.1	nonsynonymous SNV	exon3	c.C914T	p.P305L	LTTHEVIHTGEKPYKCEKCGKAFNH	LTTHEVIHTGEKLYKCEKCGKAFNH	4.0	2.0	unscreened	-	3713_19:21132426-21132426 C>T_LTTHEVIHTGEKLYKCEKCGKAFNH
8:56436719-56436719 C>T	0.0	3713	MELANOMA	-	-	-	-	XKR4	NM_052898,p.P629L|uc003xsf.3,p.P629L|ENST00000327381,p.P629L	protein_coding	uc003xsf.3	nonsynonymous SNV	exon3	c.C1886T	p.P629L	RKAILAFECSPSPPRLQYKDDALIQ	RKAILAFECSPSLPRLQYKDDALIQ	1.0	2.0	unscreened	-	3713_8:56436719-56436719 C>T_RKAILAFECSPSLPRLQYKDDALIQ
16:7703847-7703847 C>T	0.0	3713	MELANOMA	-	-	-	-	RBFOX1	ENST00000355637,p.A283V|uc002cyw.2,p.A283V|uc002cyy.2,p.A283V|uc010uyb.1,p.A263V|NM_145892,p.A283V|ENST00000340209,p.A268V|ENST00000311745,p.A283V|ENST00000436368,p.A283V|ENST00000547372,p.A306V|uc010uya.1,p.A220V|uc010uxz.1,p.A306V|ENST00000535565,p.A220V|uc010buf.1,p.A263V|uc002cyx.2,p.A283V|NM_001142334,p.A263V|uc002cys.2,p.A263V|uc002cyr.1,p.A262V|ENST00000552089,p.A280V|uc002cyv.1,p.A263V|NM_018723,p.A263V|ENST00000422070,p.A306V|NM_145893,p.A283V|NM_145891,p.A283V|ENST00000547338,p.A263V|ENST00000550418,p.A263V	retained_intron, protein_coding, processed_transcript	uc010uyb.1	nonsynonymous SNV	exon10	c.C788T	p.A263V	SAMPGFPYPAATAAAAYRGAHLRGR	SAMPGFPYPAATVAAAYRGAHLRGR	1.0	4.0	unscreened	-	3713_16:7703847-7703847 C>T_SAMPGFPYPAATVAAAYRGAHLRGR
5:112170790-112170790 T>C	1.0	3713	MELANOMA	-	-	-	1	APC	ENST00000257430,p.L629S|uc011cvt.2,p.L611S|uc003kpz.4,p.L629S|ENST00000507379,p.L611S|NM_000038,p.L629S|NM_001127510,p.L629S|ENST00000508376,p.L629S|ENST00000512211,p.L629S|uc010jbz.3,p.L346S|ENST00000457016,p.L629S|uc003kpy.4,p.L629S|NM_001127511,p.L611S|ENST00000504915,p.L192S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cvt.2	nonsynonymous SNV	exon13	c.T1832C	p.L611S	VGTLTYRSQTNTLAIIESGGGILRN	VGTLTYRSQTNTSAIIESGGGILRN	6.0	9.0	unscreened	-	3713_5:112170790-112170790 T>C_VGTLTYRSQTNTSAIIESGGGILRN
15:99482538-99482538 C>T	1.0	3713	MELANOMA	-	-	-	-	IGF1R	uc002bul.3,p.L1136F|ENST00000558762,p.L1135F|NM_000875,p.L1136F|NM_001291858,p.L1135F|uc010bon.3,p.L1135F|ENST00000268035,p.L1136F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bon.3	nonsynonymous SNV	exon18	c.C3403T	p.L1135F	AYLNANKFVHRDLAARNCMVAEDFT	AYLNANKFVHRDFAARNCMVAEDFT	8.0	6.0	-	-	3713_15:99482538-99482538 C>T_AYLNANKFVHRDFAARNCMVAEDFT
3:169540551-169540551 C>T	0.0	3713	MELANOMA	-	-	-	-	LRRIQ4	uc003fgb.3,p.S281L|NM_001080460,p.S281L|ENST00000340806,p.S281L	protein_coding	uc003fgb.3	nonsynonymous SNV	exon1	c.C842T	p.S281L	LEKVPRLICRWTSLHLLYLGNTGLH	LEKVPRLICRWTLLHLLYLGNTGLH	2.0	3.0	unscreened	-	3713_3:169540551-169540551 C>T_LEKVPRLICRWTLLHLLYLGNTGLH
17:7640533-7640533 C>T	0.0	3713	MELANOMA	-	-	-	-	DNAH2	ENST00000572933,p.P376L|NM_020877,p.P376L|uc002git.3,p.P376L|uc002giu.1,p.P376L|ENST00000570791,p.P376L|uc010vuk.2,p.P376L|ENST00000082259,p.P376L|ENST00000389173,p.P376L	retained_intron, protein_coding, nonsense_mediated_decay	uc010vuk.2	nonsynonymous SNV	exon7	c.C1127T	p.P376L	LISLIRIIWVNSPHYNTRERLTSLF	LISLIRIIWVNSLHYNTRERLTSLF	1.0	8.0	unscreened	-	3713_17:7640533-7640533 C>T_LISLIRIIWVNSLHYNTRERLTSLF
6:128643270-128643270 G>A	1.0	3713	MELANOMA	-	-	-	1	PTPRK	NM_002844,p.P137S|ENST00000368226,p.P137S|ENST00000368215,p.P137S|uc003qbj.3,p.P137S|uc010kfc.3,p.P137S|uc011ebu.2,p.P137S|NM_001291982,p.P137S|NM_001135648,p.P137S|ENST00000368227,p.P137S|ENST00000368210,p.P137S|ENST00000368213,p.P137S|uc011ebv.1,p.P137S|ENST00000532331,p.P137S|NM_001291981,p.P137S|ENST00000525459,p.P137S|NM_001291984,p.P137S|uc003qbm.4,p.P66S|ENST00000368207,p.P137S|uc003qbk.3,p.P137S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ebv.1	nonsynonymous SNV	exon3	c.C409T	p.P137S	ILVRVNKGPLANPIWNVTGFTGRDW	ILVRVNKGPLANSIWNVTGFTGRDW	1.0	9.0	unscreened	-	3713_6:128643270-128643270 G>A_ILVRVNKGPLANSIWNVTGFTGRDW
12:108620906-108620906 C>T	0.0	3713	MELANOMA	-	-	-	-	WSCD2	uc001tmu.3,p.P63L|ENST00000261400,p.P315L|ENST00000549903,p.P315L|ENST00000547525,p.P315L|NM_014653,p.P315L|uc001tms.3,p.P315L|ENST00000332082,p.P315L|uc001tmt.3,p.P315L	retained_intron, protein_coding, processed_transcript	uc001tmu.3	nonsynonymous SNV	exon2	c.C188T	p.P63L	KCSAEEFESCGTPSYFIVYQTQVQD	KCSAEEFESCGTLSYFIVYQTQVQD	1.0	5.0	unscreened	-	3713_12:108620906-108620906 C>T_KCSAEEFESCGTLSYFIVYQTQVQD
20:62729652-62729652 C>T	1.0	3713	MELANOMA	-	-	-	-	OPRL1	uc002yid.3,p.P205S|ENST00000349451,p.P205S|NM_182647,p.P205S|uc002yic.3,p.P205S|ENST00000336866,p.P205S|uc021wgs.1,p.P205S|NM_001200019,p.P205S|uc002yif.4,p.P200S|ENST00000355631,p.P205S|NM_000913,p.P205S	protein_coding	uc021wgs.1	nonsynonymous SNV	exon6	c.C613T	p.P205S	VEDEEIECLVEIPTPQDYWGPVFAI	VEDEEIECLVEISTPQDYWGPVFAI	2.0	7.0	unscreened	-	3713_20:62729652-62729652 C>T_VEDEEIECLVEISTPQDYWGPVFAI
5:89949281-89949281 C>T	0.0	3713	MELANOMA	-	-	-	-	GPR98	uc003kju.3,p.P1297L|NM_032119,p.P1297L|ENST00000405460,p.P1297L	retained_intron, protein_coding, processed_transcript	uc003kju.3	nonsynonymous SNV	exon20	c.C3890T	p.P1297L	WEILSSEFPAGLPPMIDFLLVGIFP	WEILSSEFPAGLLPMIDFLLVGIFP	1.0	8.0	unscreened	-	3713_5:89949281-89949281 C>T_WEILSSEFPAGLLPMIDFLLVGIFP
4:189063605-189063605 C>T	0.0	3713	MELANOMA	-	-	-	-	TRIML1	NM_178556,p.S235L|ENST00000332517,p.S235L|uc003izm.1,p.S235L	protein_coding, processed_transcript	uc003izm.1	nonsynonymous SNV	exon3	c.C704T	p.S235L	RSLSKMIAQIESSSQSSAFESLEEV	RSLSKMIAQIESLSQSSAFESLEEV	1.0	10.0	unscreened	-	3713_4:189063605-189063605 C>T_RSLSKMIAQIESLSQSSAFESLEEV
10:106865160-106865160 C>T	0.0	3713	MELANOMA	-	-	-	-	SORCS3	NM_014978,p.H367Y|uc001kyi.1,p.H367Y|ENST00000369701,p.H367Y	protein_coding	uc001kyi.1	nonsynonymous SNV	exon7	c.C1099T	p.H367Y	VHMEVRTTDGYAHYLTCRIQECAET	VHMEVRTTDGYAYYLTCRIQECAET	1.0	4.0	unscreened	-	3713_10:106865160-106865160 C>T_VHMEVRTTDGYAYYLTCRIQECAET
5:475748-475748 C>T	1.0	3713	MELANOMA	-	-	-	-	SLC9A3	NM_004174,p.D727N|uc003jbe.2,p.D727N|uc011clx.1,p.D718N|ENST00000514375,p.D718N|NM_001284351,p.D718N|ENST00000264938,p.D727N	retained_intron, protein_coding	uc011clx.1	nonsynonymous SNV	exon15	c.G2152A	p.D718N	LELSDTEEPPNYDEEMSGGIEFLAS	LELSDTEEPPNYNEEMSGGIEFLAS	1.0	8.0	unscreened	-	3713_5:475748-475748 C>T_LELSDTEEPPNYNEEMSGGIEFLAS
4:115544175-115544175 G>A	1.0	3713	MELANOMA	-	-	-	-	UGT8	ENST00000394511,p.E47K|NM_001128174,p.E47K|ENST00000507710,p.E47K|uc003ibt.2,p.E47K|uc003ibs.2,p.E47K|NM_003360,p.E47K|ENST00000310836,p.E47K	protein_coding	uc003ibt.2	nonsynonymous SNV	exon1	c.G139A	p.E47K	MYIFKTLASALHERGHHTVFLLSEG	MYIFKTLASALHKRGHHTVFLLSEG	6.0	9.0	unscreened	-	3713_4:115544175-115544175 G>A_MYIFKTLASALHKRGHHTVFLLSEG
6:37605944-37605944 C>T	0.0	3713	MELANOMA	-	-	-	-	MDGA1	uc003onv.1,p.G207E|ENST00000505425,p.G938E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003onv.1	nonsynonymous SNV	exon7	c.G620A	p.G207E	GARREGGGGAESGGSCAWRGFLSVE	GARREGGGGAESEGSCAWRGFLSVE	4.0	1.0	unscreened	-	3713_6:37605944-37605944 C>T_GARREGGGGAESEGSCAWRGFLSVE
6:134350569-134350569 C>T	1.0	3713	MELANOMA	-	-	-	-	SLC2A12	ENST00000275230,p.V132I|NM_145176,p.V132I|uc003qem.1,p.V132I	protein_coding	uc003qem.1	nonsynonymous SNV	exon2	c.G394A	p.V132I	GSLVLILSLSYTVLIVGRIAIGVSI	GSLVLILSLSYTILIVGRIAIGVSI	1.0	8.0	unscreened	-	3713_6:134350569-134350569 C>T_GSLVLILSLSYTILIVGRIAIGVSI
17:21730892-21730892 C>T	0.0	3713	MELANOMA	-	-	-	-	C17orf51,FAM27L	ENST00000581769,p.S65L|uc002gyy.3,p.S65L|ENST00000584755,p.S65L|ENST00000578713,p.S65L	protein_coding	uc002gyy.3	nonsynonymous SNV	exon2	c.C194T	p.S65L	GRSLSDYNIQKESTLHLVLRRRGGM	GRSLSDYNIQKELTLHLVLRRRGGM	5.0	10.0	unscreened	-	3713_17:21730892-21730892 C>T_GRSLSDYNIQKELTLHLVLRRRGGM
1:186948515-186948515 C>T	0.0	3713	MELANOMA	-	-	-	-	PLA2G4A	ENST00000367466,p.P677S|NM_024420,p.P677S|ENST00000442353,p.P617S|uc001gsc.3,p.P677S|uc010pos.2,p.P617S	protein_coding, processed_transcript	uc010pos.2	nonsynonymous SNV	exon15	c.C1849T	p.P617S	IADFDIFDDPESPFSTFNFQYPNQA	IADFDIFDDPESSFSTFNFQYPNQA	1.0	9.0	unscreened	-	3713_1:186948515-186948515 C>T_IADFDIFDDPESSFSTFNFQYPNQA
4:81121289-81121289 C>A	1.0	3713	MELANOMA	-	-	-	-	PRDM8	ENST00000504452,p.Q19K|NM_001099403,p.Q19K|NM_020226,p.Q19K|ENST00000415738,p.Q19K|uc003hmc.4,p.Q19K|uc010ijo.3,p.Q19K|ENST00000515013,p.Q19K|uc003hmb.4,p.Q19K|ENST00000339711,p.Q19K	protein_coding, processed_transcript	uc010ijo.3	nonsynonymous SNV	exon6	c.C55A	p.Q19K	QRGIWDGDAKAVQQCLTDIFTSVYT	QRGIWDGDAKAVKQCLTDIFTSVYT	2.0	9.0	-	-	3713_4:81121289-81121289 C>A_QRGIWDGDAKAVKQCLTDIFTSVYT
16:7703847-7703847 C>T	0.0	3713	MELANOMA	-	-	-	-	RBFOX1	uc010uyc.1,p.A256V|ENST00000553186,p.A236V|uc002cyt.2,p.A236V|NM_001142333,p.A236V	retained_intron, protein_coding, processed_transcript	uc010uyc.1	nonsynonymous SNV	exon8	c.C767T	p.A256V	YAVPGFPYPAATAAAAYRGAHLRGR	YAVPGFPYPAATVAAAYRGAHLRGR	1.0	4.0	unscreened	-	3713_16:7703847-7703847 C>T_YAVPGFPYPAATVAAAYRGAHLRGR
6:12120747-12120747 C>T	1.0	3713	MELANOMA	-	-	-	-	HIVEP1	NM_002114,p.S240L|ENST00000379388,p.S240L|uc003nac.3,p.S240L	protein_coding, nonsense_mediated_decay	uc003nac.3	nonsynonymous SNV	exon4	c.C719T	p.S240L	KTARSPPKLKNSSMDAPNQTSQELV	KTARSPPKLKNSLMDAPNQTSQELV	7.0	2.0	-	-	3713_6:12120747-12120747 C>T_KTARSPPKLKNSLMDAPNQTSQELV
7:150389723-150389723 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1673665;OCCURENCE=1(large_intestine)	-	GIMAP2	ENST00000223293,p.R117C|uc003who.3,p.R117C|NM_015660,p.R117C	retained_intron, protein_coding	uc003who.3	nonsynonymous SNV	exon3	c.C349T	p.R117C	GPHVLLLVTQLGRYTSQDQQAAQRV	GPHVLLLVTQLGCYTSQDQQAAQRV	6.0	1.0	unscreened	-	3713_7:150389723-150389723 C>T_GPHVLLLVTQLGCYTSQDQQAAQRV
1:228509207-228509207 C>T	1.0	3713	MELANOMA	-	-	-	-	OBSCN	NM_001098623,p.R4889W|uc009xez.2,p.R4889W|uc001hsn.4,p.R4889W|ENST00000422127,p.R4889W|ENST00000570156,p.R5846W|ENST00000366709,p.R2008W|uc001hsq.2,p.R5846W|NM_052843,p.R4889W|ENST00000366707,p.R2523W|ENST00000284548,p.R4889W|NM_001271223,p.R5846W	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon55	c.C14665T	p.R4889W	VKIQAAFKGYKVRKEMKQQEGPMFS	VKIQAAFKGYKVWKEMKQQEGPMFS	5.0	7.0	unscreened	-	3713_1:228509207-228509207 C>T_VKIQAAFKGYKVWKEMKQQEGPMFS
7:155757366-155757366 G>A	0.0	3713	MELANOMA	-	-	-	-	LOC389602	NM_001291913,p.A223T|ENST00000377722,p.A223T	protein_coding	NM_001291913	nonsynonymous SNV	exon2	c.G667A	p.A223T	CFCSPVCPQEVRACLLFLHDHGRRG	CFCSPVCPQEVRTCLLFLHDHGRRG	1.0	1.0	unscreened	-	3713_7:155757366-155757366 G>A_CFCSPVCPQEVRTCLLFLHDHGRRG
19:48734984-48734984 G>A	1.0	3713	MELANOMA	-	-	ID=COSM229346,COSM1712547;OCCURENCE=2(skin)	-	CARD8	NM_001184903,p.R159C|uc021uwr.1,p.R54C|ENST00000520015,p.R159C|NM_001184902,p.R159C|uc010xzl.2,p.R109C|ENST00000519940,p.R159C|uc010els.3,p.R92C|uc002pif.4,p.R54C|uc002pie.4,p.R54C|ENST00000391898,p.R159C|uc010xzm.2,p.R159C|uc010xzj.2,p.R159C|uc010xzk.2,p.R78C|uc002pih.4,p.R109C|ENST00000447740,p.R109C|NM_001184900,p.R159C|NM_001184901,p.R109C|ENST00000519302,p.R109C|NM_014959,p.R109C|uc010xzi.1,p.R54C|uc002pii.4,p.R159C|uc031rlm.1,p.R49C|ENST00000521613,p.R109C|ENST00000520753,p.R159C|ENST00000359009,p.R54C|ENST00000520153,p.R109C|uc021uwq.1,p.R54C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rlm.1	nonsynonymous SNV	exon6	c.C145T	p.R49C	KVCFEIEEDYKNRQFLGPEGNVDVE	KVCFEIEEDYKNCQFLGPEGNVDVE	9.0	6.0	-	-	3713_19:48734984-48734984 G>A_KVCFEIEEDYKNCQFLGPEGNVDVE
20:25205929-25205929 C>T	1.0	3713	MELANOMA	-	-	-	-	ENTPD6	uc010zta.1,p.L459F|uc002wul.2,p.L458F|ENST00000433259,p.L425F|uc010ztb.1,p.L431F	protein_coding, processed_transcript	uc010ztb.1	nonsynonymous SNV	exon13	c.C1291T	p.L431F	PHLRQPATPGVRLSQEQSAEAHSEN	PHLRQPATPGVRFSQEQSAEAHSEN	10.0	9.0	-	-	3713_20:25205929-25205929 C>T_PHLRQPATPGVRFSQEQSAEAHSEN
3:47555032-47555032 C>T	1.0	3713	MELANOMA	-	-	-	-	ELP6	uc003crk.3,p.E17K|uc003crl.1,p.E17K|NM_001031703,p.E17K|ENST00000296149,p.E17K|ENST00000442215,p.E17K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003crl.1	nonsynonymous SNV	exon1	c.G49A	p.E17K	LNNLLNTTPDRAEQGKLTLLCDAKT	LNNLLNTTPDRAKQGKLTLLCDAKT	7.0	8.0	unscreened	-	3713_3:47555032-47555032 C>T_LNNLLNTTPDRAKQGKLTLLCDAKT
11:74883534-74883534 C>T	0.0	3713	MELANOMA	-	-	-	-	SLCO2B1	uc010rrs.2,p.P182S|NM_001145211,p.P276S|uc010rrq.2,p.P43S|ENST00000289575,p.P298S|ENST00000531756,p.P43S|uc001owb.3,p.P298S|uc001owc.3,p.P71S|NM_007256,p.P298S|uc001owd.3,p.P276S|ENST00000341411,p.P71S|uc010rrr.2,p.P154S|ENST00000525650,p.P154S|ENST00000532236,p.P182S|NM_001145212,p.P154S|ENST00000428359,p.P276S|ENST00000454962,p.P71S	retained_intron, protein_coding, processed_transcript, TEC	uc010rrs.2	nonsynonymous SNV	exon5	c.C544T	p.P182S	AVALAAIPYFFFPKEMPKEKRELQF	AVALAAIPYFFFSKEMPKEKRELQF	9.0	10.0	unscreened	-	3713_11:74883534-74883534 C>T_AVALAAIPYFFFSKEMPKEKRELQF
7:48547536-48547536 C>T	0.0	3713	MELANOMA	-	-	-	-	ABCA13	uc031sxh.1,p.S2154F	retained_intron, protein_coding, nonsense_mediated_decay	uc031sxh.1	nonsynonymous SNV	exon33	c.C6461T	p.S2154F	LCIVLGFSILSASIGSSVLFYLVSV	LCIVLGFSILSAFIGSSVLFYLVSV	1.0	7.0	unscreened	-	3713_7:48547536-48547536 C>T_LCIVLGFSILSAFIGSSVLFYLVSV
18:9257295-9257295 C>T	1.0	3713	MELANOMA	-	-	-	-	ANKRD12	NM_015208,p.P1344S|uc002knx.3,p.P1321S|uc002knw.3,p.P1321S|ENST00000383440,p.P1321S|NM_001083625,p.P1321S|uc010dkx.1,p.P1051S|ENST00000400020,p.P1321S|NM_001204056,p.P1321S|ENST00000262126,p.P1344S|uc002knv.3,p.P1344S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dkx.1	nonsynonymous SNV	exon4	c.C3151T	p.P1051S	QGSLLTVPGDTSPSPKPEVFSNVPE	QGSLLTVPGDTSSSPKPEVFSNVPE	8.0	2.0	-	-	3713_18:9257295-9257295 C>T_QGSLLTVPGDTSSSPKPEVFSNVPE
11:20657901-20657901 C>T	0.0	3713	MELANOMA	-	-	-	-	SLC6A5	uc009yic.3,p.P323L|uc001mqd.3,p.P558L|ENST00000525748,p.P558L|NM_004211,p.P558L	protein_coding, processed_transcript, nonsense_mediated_decay	uc009yic.3	nonsynonymous SNV	exon10	c.C968T	p.P323L	AFVVYPEALTRLPLSPFWAIIFFLM	AFVVYPEALTRLLLSPFWAIIFFLM	1.0	10.0	unscreened	-	3713_11:20657901-20657901 C>T_AFVVYPEALTRLLLSPFWAIIFFLM
10:94836918-94836918 C>T	0.0	3713	MELANOMA	-	-	-	-	CYP26A1	NM_000783,p.L451F|uc001kik.1,p.L382F|NM_057157,p.L382F|uc001kil.2,p.L451F|ENST00000394139,p.L382F|ENST00000371531,p.L382F|ENST00000224356,p.L451F	protein_coding	uc001kil.2	nonsynonymous SNV	exon7	c.C1351T	p.L451F	LRSCVGKEFAKILLKIFTVELARHC	LRSCVGKEFAKIFLKIFTVELARHC	1.0	6.0	unscreened	-	3713_10:94836918-94836918 C>T_LRSCVGKEFAKIFLKIFTVELARHC
20:3210096-3210096 G>A	1.0	3713	MELANOMA	-	-	-	-	SLC4A11	ENST00000380056,p.P598L|ENST00000539553,p.P582L|NM_001174089,p.P582L|ENST00000380059,p.P625L|uc010zqf.2,p.P582L|uc002wig.3,p.P598L|NM_032034,p.P598L|NM_001174090,p.P625L|uc010zqe.2,p.P625L	protein_coding, processed_transcript	uc010zqf.2	nonsynonymous SNV	exon15	c.C1745T	p.P582L	WLGYTLYQFKKSPYLHPCVREILSD	WLGYTLYQFKKSLYLHPCVREILSD	1.0	9.0	unscreened	-	3713_20:3210096-3210096 G>A_WLGYTLYQFKKSLYLHPCVREILSD
10:44140025-44140025 G>A	1.0	3713	MELANOMA	-	-	-	-	ZNF32	ENST00000374433,p.H99Y|uc001jbb.3,p.H99Y|uc001jbc.3,p.H99Y|NM_006973,p.H99Y|NM_001005368,p.H99Y|ENST00000395797,p.H99Y	protein_coding, processed_transcript	uc001jbc.3	nonsynonymous SNV	exon3	c.C295T	p.H99Y	RQKGSLTLHERIHTGQKPFECTHCG	RQKGSLTLHERIYTGQKPFECTHCG	8.0	9.0	-	-	3713_10:44140025-44140025 G>A_RQKGSLTLHERIYTGQKPFECTHCG
5:131396517-131396517 G>A	0.0	3713	MELANOMA	-	-	-	-	IL3	ENST00000296870,p.D40N|NM_000588,p.D40N|uc003kwe.1,p.D40N	protein_coding	uc003kwe.1	nonsynonymous SNV	exon1	c.G118A	p.D40N	LKTSWVNCSNMIDEIITHLKQPPLP	LKTSWVNCSNMINEIITHLKQPPLP	1.0	8.0	unscreened	-	3713_5:131396517-131396517 G>A_LKTSWVNCSNMINEIITHLKQPPLP
1:70504172-70504172 C>T	1.0	3713	MELANOMA	-	-	-	-	LRRC7	ENST00000310961,p.P856S|uc001deq.3,p.P92S|uc009wbg.3,p.P135S|NM_020794,p.P851S|ENST00000415775,p.P135S|uc001dep.3,p.P851S|ENST00000035383,p.P851S	protein_coding, processed_transcript, nonsense_mediated_decay	uc009wbg.3	nonsynonymous SNV	exon15	c.C403T	p.P135S	SNPWQNWTRTPSPFEDRTAFPSKLE	SNPWQNWTRTPSSFEDRTAFPSKLE	1.0	4.0	-	-	3713_1:70504172-70504172 C>T_SNPWQNWTRTPSSFEDRTAFPSKLE
2:173891402-173891402 G>A	0.0	3713	MELANOMA	-	-	-	-	RAPGEF4	NM_001282899,p.E633K|uc002uhw.4,p.E642K|ENST00000264111,p.E785K|NM_007023,p.E786K|uc002uhv.4,p.E786K|NM_001282901,p.E566K|ENST00000535187,p.E566K|ENST00000397085,p.E17K|ENST00000538974,p.E615K|ENST00000397087,p.E642K|ENST00000539331,p.E633K|ENST00000409036,p.E786K|NM_001282900,p.E615K|NM_001100397,p.E642K|ENST00000397081,p.E786K|ENST00000540783,p.E633K	retained_intron, protein_coding, processed_transcript	uc002uhw.4	nonsynonymous SNV	exon21	c.G1924A	p.E642K	KDLAYQMTIYDWELFNCVHELELIY	KDLAYQMTIYDWKLFNCVHELELIY	1.0	4.0	unscreened	-	3713_2:173891402-173891402 G>A_KDLAYQMTIYDWKLFNCVHELELIY
16:83781802-83781802 C>T	0.0	3713	MELANOMA	-	-	-	-	CDH13	ENST00000428848,p.S504F|NM_001220489,p.S504F|ENST00000268613,p.S590F|uc002fgx.3,p.S543F|NM_001220488,p.S590F|uc010vnt.2,p.S289F|NM_001257,p.S543F|uc010vns.2,p.S590F|uc010vnu.2,p.S504F|NM_001220490,p.S289F|ENST00000566620,p.S543F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vnu.2	nonsynonymous SNV	exon10	c.C1511T	p.S504F	GTVDTTAVLDRESPFVDNSVYTALF	GTVDTTAVLDREFPFVDNSVYTALF	3.0	1.0	-	-	3713_16:83781802-83781802 C>T_GTVDTTAVLDREFPFVDNSVYTALF
11:65373246-65373246 G>A	1.0	3713	MELANOMA	-	-	-	-	MAP3K11	uc010rol.2,p.P349L|uc001oew.3,p.P606L|ENST00000530153,p.P349L|uc001oex.1,p.P113L|uc001oev.3,p.P22L|ENST00000309100,p.P606L|ENST00000532507,p.P22L|NM_002419,p.P606L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rol.2	nonsynonymous SNV	exon8	c.C1046T	p.P349L	SDDSSPLGSPSTPPALNGNPPRPSL	SDDSSPLGSPSTLPALNGNPPRPSL	9.0	3.0	-	-	3713_11:65373246-65373246 G>A_SDDSSPLGSPSTLPALNGNPPRPSL
19:56896500-56896500 C>T	1.0	3713	MELANOMA	-	-	-	-	ZNF582	uc002qmz.1,p.E96K|ENST00000586929,p.E96K|ENST00000587778,p.E96K|ENST00000301310,p.E96K|NM_144690,p.E96K|uc002qmy.3,p.E127K|ENST00000593145,p.E96K	protein_coding, non_stop_decay	uc002qmz.1	nonsynonymous SNV	exon5	c.G286A	p.E96K	DTKELFPKQHVYEVESPQWEIMESL	DTKELFPKQHVYKVESPQWEIMESL	2.0	10.0	unscreened	-	3713_19:56896500-56896500 C>T_DTKELFPKQHVYKVESPQWEIMESL
3:121212455-121212455 G>A	1.0	3713	MELANOMA	-	-	-	1	POLQ	NM_199420,p.R798W|ENST00000264233,p.R798W|uc003eee.4,p.R798W	protein_coding, processed_transcript	uc003eee.4	nonsynonymous SNV	exon15	c.C2392T	p.R798W	TFGIQRELCDLVRVSLLNAQRARVL	TFGIQRELCDLVWVSLLNAQRARVL	2.0	4.0	unscreened	-	3713_3:121212455-121212455 G>A_TFGIQRELCDLVWVSLLNAQRARVL
18:61377501-61377501 G>A	1.0	3713	MELANOMA	-	-	-	-	SERPINB11	uc010dqf.3,p.G25E|uc002ljk.4,p.G25E|ENST00000538847,p.G25E	protein_coding, processed_transcript, polymorphic_pseudogene	uc010dqf.3	nonsynonymous SNV	exon1	c.G74A	p.G25E	LDVFKELNSNNIGDNIFFSSLSLLY	LDVFKELNSNNIEDNIFFSSLSLLY	1.0	9.0	unscreened	-	3713_18:61377501-61377501 G>A_LDVFKELNSNNIEDNIFFSSLSLLY
5:140712539-140712539 C>T	1.0	3713	MELANOMA	-	-	ID=COSM1062953,COSM1062952;OCCURENCE=1(endometrium)	-	PCDHGA1	uc003lji.2,p.S763L|NM_018912,p.S763L|ENST00000378105,p.S763L|NM_031993,p.S763L|uc011dan.2,p.S763L|ENST00000517417,p.S763L	protein_coding	uc011dan.2	nonsynonymous SNV	exon1	c.C2288T	p.S763L	QTYSHEVSLTADSRKSHLIFPQPNY	QTYSHEVSLTADLRKSHLIFPQPNY	1.0	9.0	unscreened	-	3713_5:140712539-140712539 C>T_QTYSHEVSLTADLRKSHLIFPQPNY
6:30916395-30916395 C>T	0.0	3713	MELANOMA	-	-	-	-	DPCR1	ENST00000462446,p.P52S|uc003nsg.2,p.P52S|NM_080870,p.P52S	protein_coding	uc003nsg.2	nonsynonymous SNV	exon2	c.C154T	p.P52S	ELSTSDHIFPLTPGLVYSIPFDHIV	ELSTSDHIFPLTSGLVYSIPFDHIV	1.0	1.0	unscreened	-	3713_6:30916395-30916395 C>T_ELSTSDHIFPLTSGLVYSIPFDHIV
6:118596721-118596721 G>A	0.0	3713	MELANOMA	-	-	-	-	SLC35F1	uc003pxx.4,p.R246Q|ENST00000360388,p.R246Q|NM_001029858,p.R246Q	protein_coding	uc003pxx.4	nonsynonymous SNV	exon5	c.G737A	p.R246Q	NVWEEYIIRTLSRVEFLGMIGLFGA	NVWEEYIIRTLSQVEFLGMIGLFGA	5.0	5.0	unscreened	-	3713_6:118596721-118596721 G>A_NVWEEYIIRTLSQVEFLGMIGLFGA
X:106093434-106093434 G>A	1.0	3713	MELANOMA	-	-	-	-	TBC1D8B	ENST00000357242,p.D673N|ENST00000276175,p.D667N|uc004emo.3,p.D673N|NM_017752,p.D673N	retained_intron, protein_coding	uc004emo.3	nonsynonymous SNV	exon12	c.G2017A	p.D673N	ESAVNVVDCFFYDGIKAILQLGLAI	ESAVNVVDCFFYNGIKAILQLGLAI	6.0	10.0	-	-	3713_X:106093434-106093434 G>A_ESAVNVVDCFFYNGIKAILQLGLAI
6:42034134-42034134 C>T	1.0	3713	MELANOMA	-	-	-	-	TAF8	ENST00000372977,p.R192C|ENST00000372982,p.R192C|ENST00000494547,p.R192C|ENST00000456846,p.R192C|uc003ort.3,p.R192C|uc003ors.3,p.R192C|uc003oru.1,p.R192C|ENST00000465926,p.R129C|uc003orv.1,p.R192C|NM_138572,p.R192C|uc011dun.2,p.R129C	retained_intron, protein_coding, processed_transcript	uc011dun.2	nonsynonymous SNV	exon6	c.C385T	p.R129C	ASQRRDVERALTRFMAKTGETQSLF	ASQRRDVERALTCFMAKTGETQSLF	8.0	8.0	-	-	3713_6:42034134-42034134 C>T_ASQRRDVERALTCFMAKTGETQSLF
14:34270163-34270163 C>T	1.0	3713	MELANOMA	-	-	-	-	NPAS3	uc001wru.3,p.P884S|ENST00000357798,p.P871S|ENST00000356141,p.P884S|NM_022123,p.P852S|ENST00000551634,p.P858S|uc001wrs.3,p.P871S|NM_001165893,p.P854S|ENST00000346562,p.P852S|uc001wrv.3,p.P854S|ENST00000551492,p.P889S|uc001wrt.3,p.P852S|NM_001164749,p.P884S|ENST00000548645,p.P854S|NM_173159,p.P871S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wrv.3	nonsynonymous SNV	exon11	c.C2560T	p.P854S	LYHHVHRLNMSGPFGGAVSAASLTQ	LYHHVHRLNMSGSFGGAVSAASLTQ	6.0	1.0	unscreened	-	3713_14:34270163-34270163 C>T_LYHHVHRLNMSGSFGGAVSAASLTQ
7:97766723-97766723 C>T	1.0	3713	MELANOMA	-	-	-	-	LMTK2	uc003upd.2,p.S67F|NM_014916,p.S67F|ENST00000297293,p.S67F	protein_coding, processed_transcript	uc003upd.2	nonsynonymous SNV	exon2	c.C200T	p.S67F	LIILIVLIANCVSCCKDPEIDFKEF	LIILIVLIANCVFCCKDPEIDFKEF	6.0	9.0	-	-	3713_7:97766723-97766723 C>T_LIILIVLIANCVFCCKDPEIDFKEF
18:61570436-61570436 G>A	1.0	3713	MELANOMA	-	-	-	-	SERPINB2	uc010xeu.2,p.G382E|ENST00000457692,p.G382E|ENST00000299502,p.G382E|NM_002575,p.G382E|NM_001143818,p.G382E|uc002ljo.3,p.G382E	protein_coding, processed_transcript	uc010xeu.2	nonsynonymous SNV	exon9	c.G1145A	p.G382E	AAGTGGVMTGRTGHGGPQFVADHPF	AAGTGGVMTGRTEHGGPQFVADHPF	1.0	1.0	unscreened	-	3713_18:61570436-61570436 G>A_AAGTGGVMTGRTEHGGPQFVADHPF
10:83637727-83637727 G>A	0.0	3713	MELANOMA	-	-	-	-	NRG3	uc021pvi.1,p.G4D|uc021pvg.1,p.G4D|NM_001165973,p.G4D|ENST00000372142,p.G4D|ENST00000404576,p.G4D|ENST00000555784,p.G4D|ENST00000556918,p.G4D|uc021pvd.1,p.G4D|ENST00000602794,p.G4D|uc001kcp.2,p.G4D|uc021pve.1,p.G4D	protein_coding, nonsense_mediated_decay	uc021pvi.1	nonsynonymous SNV	exon1	c.G11A	p.G4D	MECGIPPTLVCVGRGG	MECDIPPTLVCVGRGG	1.0	7.0	unscreened	-	3713_10:83637727-83637727 G>A_MECDIPPTLVCVGRGG
1:47403719-47403719 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1202882;OCCURENCE=1(large_intestine)	-	CYP4A11	NM_000778,p.R96C|uc001cqp.4,p.R96C|ENST00000310638,p.R96C|ENST00000371904,p.R96C|uc001cqq.2,p.R96C|ENST00000371905,p.R96C	protein_coding, processed_transcript	uc001cqq.2	nonsynonymous SNV	exon2	c.C286T	p.R96C	SACPHWLWGGKVRVQLYDPDYMKVI	SACPHWLWGGKVCVQLYDPDYMKVI	1.0	1.0	unscreened	-	3713_1:47403719-47403719 G>A_SACPHWLWGGKVCVQLYDPDYMKVI
6:31638937-31638937 T>A	1.0	3713	MELANOMA	-	-	-	-	LY6G5B	ENST00000375880,p.C188S|uc031snr.1,p.C188S	protein_coding, processed_transcript	uc031snr.1	nonsynonymous SNV	exon6	c.T562A	p.C188S	PKRPANQFVPSSCSRHPDVPLLPRR	PKRPANQFVPSSSSRHPDVPLLPRR	9.0	9.0	unscreened	-	3713_6:31638937-31638937 T>A_PKRPANQFVPSSSSRHPDVPLLPRR
18:29246237-29246237 T>C	1.0	3713	MELANOMA	-	-	-	-	B4GALT6	ENST00000306851,p.S72G|uc002kwz.4,p.S72G|ENST00000579372,p.S28G|uc010dmb.3,p.S72G|ENST00000383131,p.S72G|NM_004775,p.S72G	retained_intron, protein_coding	uc010dmb.3	nonsynonymous SNV	exon2	c.A214G	p.S72G	IGHMIRLYTNKNSTLNGTDYPEGNN	IGHMIRLYTNKNGTLNGTDYPEGNN	8.0	9.0	unscreened	-	3713_18:29246237-29246237 T>C_IGHMIRLYTNKNGTLNGTDYPEGNN
18:3135634-3135634 G>A	1.0	3713	MELANOMA	-	-	-	-	MYOM1	ENST00000400569,p.S707F|uc002klq.3,p.S707F|ENST00000261606,p.S707F|uc002klp.3,p.S707F|NM_019856,p.S707F|NM_003803,p.S707F|ENST00000356443,p.S707F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002klq.3	nonsynonymous SNV	exon15	c.C2120T	p.S707F	PRFALFDLAEGKSYCFRVRCSNSAG	PRFALFDLAEGKFYCFRVRCSNSAG	1.0	6.0	unscreened	-	3713_18:3135634-3135634 G>A_PRFALFDLAEGKFYCFRVRCSNSAG
15:85341985-85341985 C>T	1.0	3713	MELANOMA	-	-	-	-	ZNF592	uc002bld.3,p.A968V|ENST00000560079,p.A968V|NM_014630,p.A968V|ENST00000299927,p.A968V	protein_coding, nonsense_mediated_decay	uc002bld.3	nonsynonymous SNV	exon8	c.C2903T	p.A968V	SSLPSGRWGRPEAHRRVEARPRLRN	SSLPSGRWGRPEVHRRVEARPRLRN	6.0	10.0	-	-	3713_15:85341985-85341985 C>T_SSLPSGRWGRPEVHRRVEARPRLRN
2:220479947-220479947 C>T	1.0	3713	MELANOMA	-	-	-	-	STK11IP	ENST00000295641,p.P1012S|NM_052902,p.P1012S|uc002vml.3,p.P1012S|ENST00000456909,p.P1001S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002vml.3	nonsynonymous SNV	exon24	c.C3034T	p.P1012S	PAASGEASEKVPPSGPGPAVRVREQ	PAASGEASEKVPSSGPGPAVRVREQ	5.0	2.0	-	-	3713_2:220479947-220479947 C>T_PAASGEASEKVPSSGPGPAVRVREQ
1:57204318-57204318 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1687742;OCCURENCE=1(skin)	-	C1orf168	NM_001004303,p.S571F|uc001cym.4,p.S571F|ENST00000343433,p.S571F	retained_intron, protein_coding, processed_transcript	uc001cym.4	nonsynonymous SNV	exon14	c.C1712T	p.S571F	KKTKSKENLSAFSILLPDLELKSQE	KKTKSKENLSAFFILLPDLELKSQE	1.0	10.0	unscreened	-	3713_1:57204318-57204318 G>A_KKTKSKENLSAFFILLPDLELKSQE
3:134322770-134322770 C>T	0.0	3713	MELANOMA	-	-	-	-	KY	ENST00000423778,p.G546E|uc011blx.2,p.G525E|uc010hty.3,p.G546E|NM_178554,p.G546E|ENST00000508956,p.G525E	retained_intron, protein_coding, processed_transcript	uc011blx.2	nonsynonymous SNV	exon10	c.G1574A	p.G525E	ALKIFVKKRQEPGNYIFVFNYLVCC	ALKIFVKKRQEPENYIFVFNYLVCC	1.0	8.0	unscreened	-	3713_3:134322770-134322770 C>T_ALKIFVKKRQEPENYIFVFNYLVCC
14:105268110-105268110 G>T	1.0	3713	MELANOMA	-	-	-	-	ZBTB42	ENST00000555360,p.L192F|ENST00000342537,p.L192F|uc001ypp.3,p.L192F|uc021sem.1,p.L192F|NM_001137601,p.L192F	protein_coding	uc021sem.1	nonsynonymous SNV	exon1	c.G576T	p.L192F	VPEESDQALDLSLKSGPRQERVHPP	VPEESDQALDLSFKSGPRQERVHPP	4.0	1.0	unscreened	-	3713_14:105268110-105268110 G>T_VPEESDQALDLSFKSGPRQERVHPP
1:196197454-196197454 C>T	0.0	3713	MELANOMA	-	-	-	-	KCNT2	ENST00000367433,p.R1079Q|NM_001287820,p.R1036Q|ENST00000367431,p.R1037Q|NM_001287819,p.R1079Q|ENST00000294725,p.R1103Q|uc001gtd.1,p.R1103Q|uc001gtf.1,p.R1079Q|uc001gte.1,p.R1036Q|NM_198503,p.R1103Q	protein_coding, processed_transcript	uc001gtf.1	nonsynonymous SNV	exon27	c.G3236A	p.R1079Q	TRIELNDVVYLIRPDPLAYLPNSEP	TRIELNDVVYLIQPDPLAYLPNSEP	1.0	9.0	unscreened	-	3713_1:196197454-196197454 C>T_TRIELNDVVYLIQPDPLAYLPNSEP
20:58571056-58571056 G>A	0.0	3713	MELANOMA	-	-	-	-	CDH26	uc002ybf.1,p.G192E|ENST00000244047,p.G612E|uc002ybe.3,p.G612E|ENST00000348616,p.G612E|NM_177980,p.G612E	protein_coding, processed_transcript	uc002ybf.1	nonsynonymous SNV	exon4	c.G575A	p.G192E	GLTCVELADAEVGLHVGALFPVCAA	GLTCVELADAEVELHVGALFPVCAA	2.0	2.0	unscreened	-	3713_20:58571056-58571056 G>A_GLTCVELADAEVELHVGALFPVCAA
5:115341655-115341655 C>T	0.0	3713	MELANOMA	-	-	-	-	AQPEP	ENST00000357872,p.S695F|NM_173800,p.S695F|uc003kro.3,p.S695F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003kro.3	nonsynonymous SNV	exon13	c.C2084T	p.S695F	VIHRLQLIDDAFSLSKNNYIEIETA	VIHRLQLIDDAFFLSKNNYIEIETA	2.0	10.0	unscreened	-	3713_5:115341655-115341655 C>T_VIHRLQLIDDAFFLSKNNYIEIETA
12:20792873-20792873 G>A	0.0	3713	MELANOMA	-	-	-	-	PDE3A	NM_000921,p.G745R|uc001reh.2,p.G745R|NM_001244683,p.G423R|ENST00000359062,p.G745R|uc021qwa.1,p.G423R	retained_intron, protein_coding, processed_transcript	uc021qwa.1	nonsynonymous SNV	exon9	c.G1267A	p.G423R	REFMNYFHALEIGYRDIPYHNRIHA	REFMNYFHALEIRYRDIPYHNRIHA	3.0	6.0	unscreened	-	3713_12:20792873-20792873 G>A_REFMNYFHALEIRYRDIPYHNRIHA
4:169188777-169188777 G>A	1.0	3713	MELANOMA	-	-	-	-	DDX60	NM_017631,p.H999Y|uc003irp.3,p.H999Y|ENST00000393743,p.H999Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003irp.3	nonsynonymous SNV	exon22	c.C2995T	p.H999Y	EKHVCSIKHGDIHFDHFHPCAALTT	EKHVCSIKHGDIYFDHFHPCAALTT	5.0	9.0	-	-	3713_4:169188777-169188777 G>A_EKHVCSIKHGDIYFDHFHPCAALTT
15:75182975-75182975 G>A	1.0	3713	MELANOMA	-	-	-	-	MPI	ENST00000569233,p.E42K	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000569233	nonsynonymous SNV	exon2	c.G124A	p.E42K	LLASSDPLAQIAEDKPYAEWRKSQS	LLASSDPLAQIAKDKPYAEWRKSQS	6.0	6.0	unscreened	-	3713_15:75182975-75182975 G>A_LLASSDPLAQIAKDKPYAEWRKSQS
10:24835026-24835026 C>T	1.0	3713	MELANOMA	-	-	-	-	KIAA1217	NM_019590,p.H1869Y|NM_001098500,p.H1190Y|ENST00000376454,p.H1869Y|uc010qcz.2,p.H1275Y|uc001irs.3,p.H1190Y|uc001iru.4,p.H1869Y|uc010qcy.2,p.H1300Y|ENST00000376452,p.H1300Y|uc001irt.4,p.H1235Y|ENST00000458595,p.H1275Y|NM_001282767,p.H1300Y|NM_001282768,p.H1275Y|ENST00000376462,p.H1190Y	retained_intron, protein_coding, processed_transcript	uc010qcz.2	nonsynonymous SNV	exon18	c.C3823T	p.H1275Y	VSNGSLKFQSLTHTGKGHHLSFSPQ	VSNGSLKFQSLTYTGKGHHLSFSPQ	3.0	6.0	unscreened	-	3713_10:24835026-24835026 C>T_VSNGSLKFQSLTYTGKGHHLSFSPQ
5:140594968-140594968 G>A	1.0	3713	MELANOMA	-	-	-	-	PCDHB13	NM_018933,p.D425N|ENST00000341948,p.D425N|uc003lja.1,p.D425N	protein_coding	uc003lja.1	nonsynonymous SNV	exon1	c.G1273A	p.D425N	SRAEYNITITVTDLGTPMLITQLNM	SRAEYNITITVTNLGTPMLITQLNM	2.0	9.0	-	-	3713_5:140594968-140594968 G>A_SRAEYNITITVTNLGTPMLITQLNM
6:17507944-17507944 G>A	1.0	3713	MELANOMA	-	-	-	-	CAP2	uc003ncb.3,p.D173N|uc011dja.2,p.D147N|ENST00000229922,p.D173N|ENST00000378990,p.D147N|NM_006366,p.D173N|ENST00000479291,p.D147N	protein_coding, nonsense_mediated_decay	uc011dja.2	nonsynonymous SNV	exon5	c.G439A	p.D147N	DAATFYTNRVLKDYKHSDLRHVDWV	DAATFYTNRVLKNYKHSDLRHVDWV	3.0	1.0	unscreened	-	3713_6:17507944-17507944 G>A_DAATFYTNRVLKNYKHSDLRHVDWV
1:245530400-245530400 G>A	1.0	3713	MELANOMA	-	-	-	-	KIF26B	NM_018012,p.D244N|ENST00000407071,p.D244N|uc001ibf.1,p.D244N|uc010pyq.1,p.D244N|uc010pyr.2,p.D44N	retained_intron, protein_coding, processed_transcript	uc010pyr.2	nonsynonymous SNV	exon2	c.G130A	p.D44N	GSRHVGGLQQPRDWAFVPAPCATSN	GSRHVGGLQQPRNWAFVPAPCATSN	8.0	5.0	unscreened	-	3713_1:245530400-245530400 G>A_GSRHVGGLQQPRNWAFVPAPCATSN
1:86590835-86590835 G>A	0.0	3713	MELANOMA	-	-	-	-	COL24A1	uc009wcq.3,p.S395F|uc001dlj.3,p.S395F|NM_152890,p.S395F|ENST00000436319,p.S395F|ENST00000426639,p.S395F|ENST00000370571,p.S395F	protein_coding, processed_transcript, nonsense_mediated_decay	uc009wcq.3	nonsynonymous SNV	exon3	c.C1184T	p.S395F	RVTGLSLFKKMPSILPQIKQDTITN	RVTGLSLFKKMPFILPQIKQDTITN	2.0	7.0	unscreened	-	3713_1:86590835-86590835 G>A_RVTGLSLFKKMPFILPQIKQDTITN
1:185894184-185894184 C>T	1.0	3713	MELANOMA	-	-	-	-	HMCN1	uc001grq.1,p.P431S|ENST00000271588,p.P431S|NM_031935,p.P431S|ENST00000367492,p.P431S	protein_coding, processed_transcript	uc001grq.1	nonsynonymous SNV	exon9	c.C1291T	p.P431S	SSVSFSSIVPDAPKVTMPEKTPGYY	SSVSFSSIVPDASKVTMPEKTPGYY	8.0	5.0	unscreened	-	3713_1:185894184-185894184 C>T_SSVSFSSIVPDASKVTMPEKTPGYY
15:40750688-40750688 C>T	1.0	3713	MELANOMA	-	-	-	-	BAHD1	NM_014952,p.L9F|uc001zlv.2,p.L9F|uc001zlt.2,p.L9F|ENST00000416165,p.L9F|ENST00000561234,p.L9F|uc010bbp.1,p.L9F|ENST00000560846,p.L9F|uc001zlu.2,p.L9F|NM_001301132,p.L9F	retained_intron, protein_coding	uc010bbp.1	nonsynonymous SNV	exon2	c.C25T	p.L9F	MTHTRRKSLPMLSSGLTGRRE	MTHTRRKSFPMLSSGLTGRRE	4.0	10.0	-	-	3713_15:40750688-40750688 C>T_MTHTRRKSFPMLSSGLTGRRE
10:13523048-13523048 G>A	1.0	3713	MELANOMA	-	-	-	-	BEND7	ENST00000396898,p.T318I|ENST00000396900,p.T305I|NM_001100912,p.T266I|NM_152751,p.T253I|uc001imm.2,p.T253I|uc001imn.3,p.T14I|ENST00000341083,p.T253I|uc001imo.4,p.T266I|ENST00000378605,p.T266I	protein_coding, processed_transcript	uc001imo.4	nonsynonymous SNV	exon5	c.C797T	p.T266I	PKSQLDSILSNYTRSGSLLFRKLVC	PKSQLDSILSNYIRSGSLLFRKLVC	1.0	4.0	-	-	3713_10:13523048-13523048 G>A_PKSQLDSILSNYIRSGSLLFRKLVC
1:216144013-216144013 A>-	0.0	3713	MELANOMA	-	-	-	-	USH2A	ENST00000307340,p.F2304fs|uc001hku.1,p.F2304fs|ENST00000366943,p.F2304fs|NM_206933,p.F2304fs	retained_intron, protein_coding	uc001hku.1	frameshift deletion	exon36	c.6911delT	p.F2304fs	RAYGFAPWSLHSFRVQACTAKGCAL	RAYGFAPWSLHSSESKHARPKVVLWAHWWKIEL	1.0	7.0	unscreened	-	3713_1:216144013-216144013 A>-_RAYGFAPWSLHSSESKHARPKVVLWAHWWKIEL
4:71024256-71024256 C>T	0.0	3713	MELANOMA	-	-	-	-	PRR27	NM_214711,p.A96V|uc003hfa.4,p.A96V|uc003hfb.4,p.A96V|ENST00000344526,p.A96V|ENST00000502294,p.A96V	protein_coding, processed_transcript, nonsense_mediated_decay	uc003hfb.4	nonsynonymous SNV	exon3	c.C287T	p.A96V	FPYVYHIRGFPLATQLNVPPLPPRG	FPYVYHIRGFPLVTQLNVPPLPPRG	1.0	9.0	unscreened	-	3713_4:71024256-71024256 C>T_FPYVYHIRGFPLVTQLNVPPLPPRG
14:95905988-95905988 G>A	0.0	3713	MELANOMA	-	-	-	-	SYNE3	ENST00000557275,p.S736L|ENST00000334258,p.S736L|NM_152592,p.S736L|uc010avi.3,p.S736L|uc001yei.4,p.S736L|ENST00000554873,p.S493L	retained_intron, protein_coding	uc010avi.3	nonsynonymous SNV	exon12	c.C2207T	p.S736L	AVVQEELRELAESWRALRLLEESLL	AVVQEELRELAELWRALRLLEESLL	2.0	2.0	unscreened	-	3713_14:95905988-95905988 G>A_AVVQEELRELAELWRALRLLEESLL
21:34037261-34037261 C>T	1.0	3713	MELANOMA	-	-	-	-	SYNJ1	NM_203446,p.A795T|ENST00000433931,p.A795T|ENST00000357345,p.A756T|ENST00000322229,p.A756T|uc011ads.1,p.A751T|ENST00000382491,p.A751T|NM_001160306,p.A751T|uc002yqg.2,p.A751T|uc002yqh.2,p.A795T|NM_001160302,p.A756T|NM_003895,p.A795T|ENST00000382499,p.A795T|uc002yqi.2,p.A795T|uc002yqf.2,p.A756T	retained_intron, protein_coding, processed_transcript	uc011ads.1	nonsynonymous SNV	exon16	c.G2251A	p.A751T	ELIRQQNWDSLIAGDQLINQKNAGQ	ELIRQQNWDSLITGDQLINQKNAGQ	6.0	1.0	unscreened	-	3713_21:34037261-34037261 C>T_ELIRQQNWDSLITGDQLINQKNAGQ
13:53035634-53035634 G>A	1.0	3713	MELANOMA	-	-	-	-	CKAP2	uc001vgt.2,p.V225I|NM_001286686,p.V177I|ENST00000378034,p.V225I|NM_018204,p.V225I|ENST00000490903,p.V177I|ENST00000378037,p.V226I|uc001vgu.2,p.V225I|NM_001286687,p.V225I|NM_001098525,p.V226I|uc010tha.1,p.V177I|uc001vgv.2,p.V226I|ENST00000258607,p.V225I	retained_intron, protein_coding	uc010tha.1	nonsynonymous SNV	exon4	c.G529A	p.V177I	KATKPQPVNTSSVTVKSNRSSNMTA	KATKPQPVNTSSITVKSNRSSNMTA	7.0	7.0	-	-	3713_13:53035634-53035634 G>A_KATKPQPVNTSSITVKSNRSSNMTA
1:248458252-248458252 G>A	0.0	3713	MELANOMA	-	-	-	-	OR2T12	NM_001004692,p.S210F|uc010pzj.2,p.S210F|ENST00000317996,p.S210F	protein_coding	uc010pzj.2	nonsynonymous SNV	exon1	c.C629T	p.S210F	YICCVLMLLVPFSLILSSYGLILAA	YICCVLMLLVPFFLILSSYGLILAA	1.0	1.0	unscreened	-	3713_1:248458252-248458252 G>A_YICCVLMLLVPFFLILSSYGLILAA
14:20345076-20345076 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1707071;OCCURENCE=1(skin)	-	OR4K2	NM_001005501,p.S217L|uc001vwh.1,p.S217L|ENST00000298642,p.S217L	protein_coding	uc001vwh.1	nonsynonymous SNV	exon1	c.C650T	p.S217L	IIALSCFIVLFNSYVIVLVTVKHHS	IIALSCFIVLFNLYVIVLVTVKHHS	1.0	8.0	unscreened	-	3713_14:20345076-20345076 C>T_IIALSCFIVLFNLYVIVLVTVKHHS
6:4031837-4031837 G>A	1.0	3713	MELANOMA	-	-	-	-	PRPF4B	uc003mvv.3,p.G29E|ENST00000538861,p.G15E|ENST00000480058,p.G29E|NM_003913,p.G29E|ENST00000337659,p.G29E	protein_coding, processed_transcript, nonsense_mediated_decay	uc003mvv.3	nonsynonymous SNV	exon2	c.G86A	p.G29E	DANSEKSINEENGEVSEDQSQNKHS	DANSEKSINEENEEVSEDQSQNKHS	10.0	10.0	-	-	3713_6:4031837-4031837 G>A_DANSEKSINEENEEVSEDQSQNKHS
6:26217488-26217488 A>G	1.0	3713	MELANOMA	-	-	-	-	HIST1H2AE	uc003nha.1,p.K96E|ENST00000303910,p.K96E|NM_021052,p.K96E	protein_coding	uc003nha.1	nonsynonymous SNV	exon1	c.A286G	p.K96E	LQLAIRNDEELNKLLGRVTIAQGGV	LQLAIRNDEELNELLGRVTIAQGGV	4.0	2.0	unscreened	-	3713_6:26217488-26217488 A>G_LQLAIRNDEELNELLGRVTIAQGGV
1:79383560-79383560 C>T	0.0	3713	MELANOMA	-	-	-	-	ELTD1	NM_022159,p.G546E|ENST00000370742,p.G546E|uc001diq.4,p.G546E	protein_coding	uc001diq.4	nonsynonymous SNV	exon11	c.G1637A	p.G546E	YIFGYLSPAVVVGFSAALGYRYYGT	YIFGYLSPAVVVEFSAALGYRYYGT	3.0	4.0	unscreened	-	3713_1:79383560-79383560 C>T_YIFGYLSPAVVVEFSAALGYRYYGT
14:73577758-73577758 C>T	1.0	3713	MELANOMA	-	-	-	-	RBM25	NM_021239,p.P638S|uc001xno.3,p.P638S|ENST00000261973,p.P638S|uc010ttu.2,p.P638S|ENST00000527432,p.P638S|uc001xnp.3,p.P433S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ttu.2	nonsynonymous SNV	exon16	c.C1912T	p.P638S	VSSASGNATPNTPGDESPCGIIIPH	VSSASGNATPNTSGDESPCGIIIPH	10.0	2.0	-	-	3713_14:73577758-73577758 C>T_VSSASGNATPNTSGDESPCGIIIPH
7:39730020-39730020 C>T	1.0	3713	MELANOMA	-	-	-	-	RALA	ENST00000005257,p.R52W|uc003thd.3,p.R52W|NM_005402,p.R52W|ENST00000436179,p.R52W	protein_coding, processed_transcript, nonsense_mediated_decay	uc003thd.3	nonsynonymous SNV	exon3	c.C154T	p.R52W	VEDYEPTKADSYRKKVVLDGEEVQI	VEDYEPTKADSYWKKVVLDGEEVQI	8.0	9.0	-	-	3713_7:39730020-39730020 C>T_VEDYEPTKADSYWKKVVLDGEEVQI
17:33885045-33885045 G>A	0.0	3713	MELANOMA	-	-	-	-	SLFN14	ENST00000415846,p.P13S|uc010ctu.1,p.P13S|NM_001129820,p.P13S	protein_coding	uc010ctu.1	nonsynonymous SNV	exon1	c.C37T	p.P13S	MESLKTDTEMPYPEVIVDVGRVIFG	MESLKTDTEMPYSEVIVDVGRVIFG	1.0	2.0	unscreened	-	3713_17:33885045-33885045 G>A_MESLKTDTEMPYSEVIVDVGRVIFG
5:115341655-115341655 C>T	0.0	3713	MELANOMA	-	-	-	-	AQPEP	ENST00000504467,p.S695F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000504467	nonsynonymous SNV	exon13	c.C2084T	p.S695F	VIHRLQLIDDAFSLSKGTY	VIHRLQLIDDAFFLSKGTY	2.0	10.0	unscreened	-	3713_5:115341655-115341655 C>T_VIHRLQLIDDAFFLSKGTY
2:217525376-217525376 C>T	1.0	3713	MELANOMA	-	-	-	-	IGFBP2	ENST00000233809,p.P180L|ENST00000456764,p.P36L|uc010zju.2,p.P180L|ENST00000434997,p.P14L	retained_intron, protein_coding	uc010zju.2	nonsynonymous SNV	exon2	c.C539T	p.P180L	NMLGGGGSAGRKPLKSGMKELAVFR	NMLGGGGSAGRKLLKSGMKELAVFR	9.0	8.0	-	-	3713_2:217525376-217525376 C>T_NMLGGGGSAGRKLLKSGMKELAVFR
19:9296648-9296648 C>T	0.0	3713	MELANOMA	-	-	-	-	OR7D2	uc002mkz.1,p.S64F|ENST00000344248,p.S64F|NM_175883,p.S64F	protein_coding	uc002mkz.1	nonsynonymous SNV	exon1	c.C191T	p.S64F	DSHLHTPMYFFLSNLSWVDICFSTC	DSHLHTPMYFFLFNLSWVDICFSTC	1.0	10.0	unscreened	-	3713_19:9296648-9296648 C>T_DSHLHTPMYFFLFNLSWVDICFSTC
6:74079431-74079431 G>A	0.0	3713	MELANOMA	-	-	-	-	OOEP	NM_001080507,p.L29F|ENST00000370359,p.L29F|uc003pgu.4,p.L29F	protein_coding	uc003pgu.4	nonsynonymous SNV	exon1	c.C85T	p.L29F	PAHSLEQLRRLPLPPPQIRIRPWWF	PAHSLEQLRRLPFPPPQIRIRPWWF	3.0	5.0	unscreened	-	3713_6:74079431-74079431 G>A_PAHSLEQLRRLPFPPPQIRIRPWWF
11:123524484-123524484 G>A	0.0	3713	MELANOMA	-	-	-	-	SCN3B	ENST00000530277,p.P9L|ENST00000528267,p.P9L|ENST00000527836,p.P9L|ENST00000299333,p.P9L|uc001pzb.1,p.P9L|ENST00000392770,p.P9L|uc001pza.1,p.P9L|NM_001040151,p.P9L|NM_018400,p.P9L	retained_intron, protein_coding	uc001pzb.1	nonsynonymous SNV	exon1	c.C26T	p.P9L	MPAFNRLFPLASLVLIYWVSV	MPAFNRLFLLASLVLIYWVSV	1.0	8.0	unscreened	-	3713_11:123524484-123524484 G>A_MPAFNRLFLLASLVLIYWVSV
20:9561309-9561309 G>A	0.0	3713	MELANOMA	-	-	ID=COSM172069;OCCURENCE=1(large_intestine)	-	PAK7	ENST00000353224,p.P158L|uc010gby.1,p.P158L|ENST00000378423,p.P158L|uc002wnk.2,p.P158L|uc002wnl.2,p.P158L|NM_020341,p.P158L|NM_177990,p.P158L|ENST00000378429,p.P158L|uc002wnj.2,p.P158L	protein_coding	uc010gby.1	nonsynonymous SNV	exon4	c.C473T	p.P158L	YREKSLYGDDLDPYYRGSHAAKQNG	YREKSLYGDDLDLYYRGSHAAKQNG	1.0	10.0	unscreened	-	3713_20:9561309-9561309 G>A_YREKSLYGDDLDLYYRGSHAAKQNG
1:147230775-147230775 G>A	0.0	3713	MELANOMA	-	-	-	-	GJA5	ENST00000369237,p.P191L|NM_181703,p.P191L|ENST00000271348,p.P191L|uc021ovl.1,p.P191L|uc001eps.1,p.P191L|uc001ept.1,p.P191L|ENST00000430508,p.P191L|NM_005266,p.P191L	protein_coding	uc021ovl.1	nonsynonymous SNV	exon1	c.C572T	p.P191L	LTTLHVCRRSPCPHPVNCYVSRPTE	LTTLHVCRRSPCLHPVNCYVSRPTE	5.0	5.0	unscreened	-	3713_1:147230775-147230775 G>A_LTTLHVCRRSPCLHPVNCYVSRPTE
17:39776978-39776978 C>T	1.0	3713	MELANOMA	-	-	-	-	KRT17	uc002hxh.2,p.D372N|ENST00000311208,p.D372N|NM_000422,p.D372N|ENST00000540235,p.D531N	retained_intron, protein_coding	uc002hxh.2	nonsynonymous SNV	exon6	c.G1114A	p.D372N	MEQQNQEYKILLDVKTRLEQEIATY	MEQQNQEYKILLNVKTRLEQEIATY	3.0	1.0	-	-	3713_17:39776978-39776978 C>T_MEQQNQEYKILLNVKTRLEQEIATY
11:5799758-5799758 G>A	0.0	3713	MELANOMA	-	-	-	-	OR52N5	NM_001001922,p.S36F|ENST00000317093,p.S36F|uc010qzn.2,p.S36F	protein_coding	uc010qzn.2	nonsynonymous SNV	exon1	c.C107T	p.S36F	GIPGLERVHVWISLPLCTMYIIFLV	GIPGLERVHVWIFLPLCTMYIIFLV	1.0	10.0	unscreened	-	3713_11:5799758-5799758 G>A_GIPGLERVHVWIFLPLCTMYIIFLV
X:21515905-21515905 G>A	1.0	3713	MELANOMA	-	-	-	-	CNKSR2	NM_014927,p.G228S|uc004czw.3,p.G228S|ENST00000425654,p.G228S|ENST00000543067,p.G228S|NM_001168647,p.G228S|NM_001168649,p.G228S|uc011mjn.2,p.G228S|ENST00000379510,p.G228S|ENST00000279451,p.G228S|uc004czx.2,p.G228S|uc011mjo.2,p.G228S|NM_001168648,p.G228S	protein_coding, processed_transcript	uc011mjo.2	nonsynonymous SNV	exon7	c.G682A	p.G228S	IQLANIKPSEGLGMYIKSTYDGLHV	IQLANIKPSEGLSMYIKSTYDGLHV	3.0	10.0	unscreened	-	3713_X:21515905-21515905 G>A_IQLANIKPSEGLSMYIKSTYDGLHV
11:134182735-134182735 G>A	0.0	3713	MELANOMA	-	-	-	-	GLB1L3	ENST00000431683,p.G485E|NM_001080407,p.G485E|uc009zdf.3,p.G485E	retained_intron, protein_coding, nonsense_mediated_decay	uc009zdf.3	nonsynonymous SNV	exon15	c.G1454A	p.G485E	DVAQVFLDETMIGILNENNKDLHIP	DVAQVFLDETMIEILNENNKDLHIP	1.0	6.0	unscreened	-	3713_11:134182735-134182735 G>A_DVAQVFLDETMIEILNENNKDLHIP
9:19786072-19786072 C>T	0.0	3713	MELANOMA	-	-	-	-	SLC24A2	ENST00000341998,p.E265K|ENST00000286344,p.E265K|NM_001193288,p.E265K|NM_020344,p.E265K|uc003zoa.2,p.E265K|uc003zob.2,p.E265K	protein_coding	uc003zob.2	nonsynonymous SNV	exon1	c.G793A	p.E265K	IIFFLDNVIMWWESLLLLTAYFCYV	IIFFLDNVIMWWKSLLLLTAYFCYV	1.0	2.0	unscreened	-	3713_9:19786072-19786072 C>T_IIFFLDNVIMWWKSLLLLTAYFCYV
20:1629950-1629950 G>A	1.0	3713	MELANOMA	-	-	-	-	SIRPG	ENST00000216927,p.P60S|uc002wfo.1,p.P60S|ENST00000303415,p.P60S|uc002wfm.1,p.P60S|ENST00000344103,p.P60S|NM_001039508,p.P60S|ENST00000381583,p.P60S|ENST00000381580,p.P27S|NM_018556,p.P60S|NM_080816,p.P60S|uc002wfn.1,p.P60S	protein_coding, processed_transcript	uc002wfo.1	nonsynonymous SNV	exon2	c.C178T	p.P60S	TATLHCTVTSLLPVGPVLWFRGVGP	TATLHCTVTSLLSVGPVLWFRGVGP	4.0	2.0	unscreened	-	3713_20:1629950-1629950 G>A_TATLHCTVTSLLSVGPVLWFRGVGP
3:51274960-51274960 C>T	0.0	3713	MELANOMA	-	-	-	-	DOCK3	ENST00000266037,p.H681Y|uc011bds.2,p.H681Y|NM_004947,p.H681Y	protein_coding	uc011bds.2	nonsynonymous SNV	exon21	c.C2041T	p.H681Y	FIINLLRDIKYFHFRPVMDTYIQKH	FIINLLRDIKYFYFRPVMDTYIQKH	1.0	7.0	unscreened	-	3713_3:51274960-51274960 C>T_FIINLLRDIKYFYFRPVMDTYIQKH
9:127230936-127230936 C>T	0.0	3713	MELANOMA	-	-	-	-	PSMB7,NR5A1	uc010mwn.3,p.H765Y|ENST00000334810,p.H765Y	protein_coding	uc010mwn.3	nonsynonymous SNV	exon14	c.C2293T	p.H765Y	VSMHPGPGMRLYHATGWGVPVGIVA	VSMHPGPGMRLYYATGWGVPVGIVA	1.0	1.0	unscreened	-	3713_9:127230936-127230936 C>T_VSMHPGPGMRLYYATGWGVPVGIVA
14:77319653-77319653 G>A	0.0	3713	MELANOMA	-	-	-	-	LRRC74A	ENST00000393774,p.C303Y|uc010asn.1,p.C63Y|NM_194287,p.C303Y|uc001xsx.2,p.C303Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc010asn.1	nonsynonymous SNV	exon8	c.G188A	p.C63Y	ALALGEVLRLNRCLVYLDIGGNDIG	ALALGEVLRLNRYLVYLDIGGNDIG	1.0	10.0	unscreened	-	3713_14:77319653-77319653 G>A_ALALGEVLRLNRYLVYLDIGGNDIG
18:31326549-31326549 T>C	0.0	3713	MELANOMA	-	-	-	-	ASXL3	ENST00000269197,p.V2246A|uc010dmg.1,p.V2246A|uc002kxq.2,p.V1953A|NM_030632,p.V2246A	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dmg.1	nonsynonymous SNV	exon12	c.T6737C	p.V2246A	CIGPSKLCVACLVVR	CIGPSKLCVACLAVR	1.0	10.0	unscreened	-	3713_18:31326549-31326549 T>C_CIGPSKLCVACLAVR
2:109988120-109988120 C>T	0.0	3713	MELANOMA	-	-	-	-	SH3RF3	uc010ywt.1,p.P310S|NM_001099289,p.P310S|ENST00000418513,p.P310S|ENST00000309415,p.P310S	protein_coding	uc010ywt.1	nonsynonymous SNV	exon3	c.C928T	p.P310S	AEGMLGDKIGIFPLLYVELNDSAKQ	AEGMLGDKIGIFSLLYVELNDSAKQ	2.0	4.0	unscreened	-	3713_2:109988120-109988120 C>T_AEGMLGDKIGIFSLLYVELNDSAKQ
3:160395324-160395324 G>A	1.0	3713	MELANOMA	-	-	-	-	ARL14	uc003fdq.3,p.D64N|ENST00000320767,p.D64N|NM_025047,p.D64N	protein_coding	uc003fdq.3	nonsynonymous SNV	exon1	c.G190A	p.D64N	IELERNLSLTVWDVGGQEKMRTVWG	IELERNLSLTVWNVGGQEKMRTVWG	1.0	3.0	unscreened	-	3713_3:160395324-160395324 G>A_IELERNLSLTVWNVGGQEKMRTVWG
2:175437165-175437165 C>T	1.0	3713	MELANOMA	-	-	-	-	WIPF1	ENST00000409891,p.G123E|ENST00000392546,p.G123E|uc002ujb.2,p.G123E|ENST00000392547,p.G123E|uc010fqt.1,p.G123E|NM_003387,p.G123E|uc002ujc.1,p.G123E|uc002uja.3,p.G123E|ENST00000359761,p.G123E|ENST00000272746,p.G123E|NM_001077269,p.G123E|ENST00000409415,p.G123E|ENST00000455428,p.G120E|uc010zep.1,p.G123E|uc002uiz.3,p.G123E	retained_intron, protein_coding, processed_transcript	uc010zep.1	nonsynonymous SNV	exon5	c.G368A	p.G123E	LRSTANRDNDSGGSRPPLLPPGGRS	LRSTANRDNDSGESRPPLLPPGGRS	9.0	5.0	unscreened	-	3713_2:175437165-175437165 C>T_LRSTANRDNDSGESRPPLLPPGGRS
16:3293298-3293298 G>A	0.0	3713	MELANOMA	-	-	-	-	MEFV	uc021tbz.1,p.S149F|uc021tby.1,p.S233F|NM_000243,p.S730F|ENST00000219596,p.S730F|uc021tbx.1,p.S310F|ENST00000536379,p.S519F|ENST00000339854,p.S550F|uc002cun.1,p.S730F	retained_intron, protein_coding, nonsense_mediated_decay	uc021tbz.1	nonsynonymous SNV	exon6	c.C446T	p.S149F	VGIFVDYRVGSISFYNVTARSHIYT	VGIFVDYRVGSIFFYNVTARSHIYT	2.0	2.0	unscreened	-	3713_16:3293298-3293298 G>A_VGIFVDYRVGSIFFYNVTARSHIYT
6:116757015-116757015 C>T	0.0	3713	MELANOMA	-	-	-	-	DSE	ENST00000537543,p.P481S|ENST00000359564,p.P462S|uc003pws.3,p.P462S|NM_013352,p.P462S|ENST00000331677,p.P462S|ENST00000452085,p.P462S|uc003pwt.3,p.P462S|NM_001080976,p.P462S|uc003pwu.3,p.P129S|uc011ebg.2,p.P481S	protein_coding	uc011ebg.2	nonsynonymous SNV	exon6	c.C1441T	p.P481S	HEHPDQNSFTFAPNGVPFITEALYG	HEHPDQNSFTFASNGVPFITEALYG	7.0	5.0	unscreened	-	3713_6:116757015-116757015 C>T_HEHPDQNSFTFASNGVPFITEALYG
7:142658485-142658485 G>A	0.0	3713	MELANOMA	-	-	-	-	KEL	ENST00000467543,p.S43F|NM_000420,p.S62F|ENST00000476829,p.S62F|ENST00000355265,p.S62F|uc003wcb.3,p.S62F	retained_intron, protein_coding, processed_transcript	uc003wcb.3	nonsynonymous SNV	exon3	c.C185T	p.S62F	TAILILGLLLCFSVLLFYNFQNCGP	TAILILGLLLCFFVLLFYNFQNCGP	1.0	3.0	unscreened	-	3713_7:142658485-142658485 G>A_TAILILGLLLCFFVLLFYNFQNCGP
16:314848-314848 C>T	1.0	3713	MELANOMA	-	-	-	-	ITFG3	NM_032039,p.L496F|ENST00000301678,p.L496F|uc002cgh.3,p.L496F|ENST00000399932,p.L496F|uc002cgf.3,p.L496F|NM_001284497,p.L496F|uc002cgg.2,p.L496F|ENST00000450082,p.L496F|ENST00000301679,p.L496F	retained_intron, protein_coding	uc002cgh.3	nonsynonymous SNV	exon12	c.C1486T	p.L496F	VLFEPSRHAAYILLTGPADSEAPGL	VLFEPSRHAAYIFLTGPADSEAPGL	10.0	3.0	-	-	3713_16:314848-314848 C>T_VLFEPSRHAAYIFLTGPADSEAPGL
19:12155494-12155494 G>A	1.0	3713	MELANOMA	0.04	rs78408076	ID=COSM1390496,COSM1390495,COSM1390497;OCCURENCE=2(large_intestine)	-	ZNF878	NM_001080404,p.S241L|ENST00000547628,p.S241L|uc021upl.1,p.S241L|ENST00000602107,p.S288L	protein_coding	uc021upl.1	nonsynonymous SNV	exon4	c.C722T	p.S241L	CNICGKAFFSPSSLKRHEKSHTGEK	CNICGKAFFSPSLLKRHEKSHTGEK	1.0	3.0	unscreened	-	3713_19:12155494-12155494 G>A_CNICGKAFFSPSLLKRHEKSHTGEK
1:248309077-248309077 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1690138;OCCURENCE=1(skin)	-	OR2M5	uc010pze.2,p.P210S|ENST00000366476,p.P210S|NM_001004690,p.P210S	protein_coding	uc010pze.2	nonsynonymous SNV	exon1	c.C628T	p.P210S	VLFICCIVMIVFPVAIIIASYARVI	VLFICCIVMIVFSVAIIIASYARVI	1.0	9.0	unscreened	-	3713_1:248309077-248309077 C>T_VLFICCIVMIVFSVAIIIASYARVI
1:100361905-100361905 G>A	1.0	3713	MELANOMA	-	-	-	-	AGL	NM_000642,p.R1108K|ENST00000370165,p.R1108K|uc001dsl.1,p.R1108K|uc001dsi.1,p.R1108K|ENST00000361915,p.R1108K|NM_000646,p.R1092K|NM_000028,p.R1108K|ENST00000361522,p.R1091K|uc001dsm.1,p.R1092K|ENST00000361302,p.R1092K|NM_000644,p.R1108K|ENST00000370163,p.R1108K|uc001dsn.1,p.R1091K|uc001dsj.1,p.R1108K|ENST00000370161,p.R1092K|uc001dsk.1,p.R1108K|ENST00000294724,p.R1108K|NM_000645,p.R1091K|NM_000643,p.R1108K	protein_coding, processed_transcript	uc001dsn.1	nonsynonymous SNV	exon23	c.G3272A	p.R1091K	FRCWGRDTFIALRGILLITGRYVEA	FRCWGRDTFIALKGILLITGRYVEA	4.0	10.0	-	-	3713_1:100361905-100361905 G>A_FRCWGRDTFIALKGILLITGRYVEA
18:10770148-10770148 C>T	1.0	3713	MELANOMA	-	-	-	-	PIEZO2	ENST00000580640,p.E982K|ENST00000582913,p.E971K|NM_022068,p.E957K|uc002kos.2,p.E957K|ENST00000383408,p.E245K|uc002kou.2,p.E311K|ENST00000503781,p.E957K|ENST00000302079,p.E957K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kou.2	nonsynonymous SNV	exon7	c.G931A	p.E311K	IVSSYIIWVSVKEVSLFNYVFLISW	IVSSYIIWVSVKKVSLFNYVFLISW	2.0	6.0	unscreened	-	3713_18:10770148-10770148 C>T_IVSSYIIWVSVKKVSLFNYVFLISW
8:75156810-75156810 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1553217;OCCURENCE=1(lung)	-	JPH1	uc003yag.1,p.P484L|uc003yae.3,p.P620L|NM_020647,p.P620L|ENST00000342232,p.P620L|uc003yaf.3,p.P620L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003yag.1	nonsynonymous SNV	exon4	c.C1451T	p.P484L	KAKKSELAIPKNPASNDSCPALEKE	KAKKSELAIPKNLASNDSCPALEKE	1.0	1.0	unscreened	-	3713_8:75156810-75156810 G>A_KAKKSELAIPKNLASNDSCPALEKE
20:36997762-36997762 C>T	0.0	3713	MELANOMA	-	-	-	-	LBP	NM_004139,p.L369F|ENST00000217407,p.L369F|uc002xic.2,p.L369F	protein_coding	uc002xic.2	nonsynonymous SNV	exon10	c.C1105T	p.L369F	SVDPYMEIDAFVLLPSSSKEPVFRL	SVDPYMEIDAFVFLPSSSKEPVFRL	1.0	5.0	unscreened	-	3713_20:36997762-36997762 C>T_SVDPYMEIDAFVFLPSSSKEPVFRL
2:128758000-128758000 G>A	1.0	3713	MELANOMA	-	-	-	-	SAP130	NM_001145928,p.P326S|uc002tpp.2,p.P326S|uc002tpn.2,p.P87S|ENST00000357702,p.P326S|uc010fmd.2,p.P326S|ENST00000259235,p.P326S|ENST00000259234,p.P300S|NM_024545,p.P326S	protein_coding	uc010fmd.2	nonsynonymous SNV	exon8	c.C976T	p.P326S	ALSRPTLSIQHPPSAAISIQRPAQS	ALSRPTLSIQHPSSAAISIQRPAQS	4.0	2.0	-	-	3713_2:128758000-128758000 G>A_ALSRPTLSIQHPSSAAISIQRPAQS
2:128758000-128758000 G>A	1.0	3713	MELANOMA	-	-	-	-	SAP130	uc002tpq.1,p.P299S	protein_coding	uc002tpq.1	nonsynonymous SNV	exon8	c.C895T	p.P299S	SALRPTLSIQHPPSAAISIQRPAQS	SALRPTLSIQHPSSAAISIQRPAQS	4.0	2.0	unscreened	-	3713_2:128758000-128758000 G>A_SALRPTLSIQHPSSAAISIQRPAQS
11:64361248-64361248 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1704210;OCCURENCE=1(skin)	-	SLC22A12	uc001oam.2,p.P268L|uc009ypt.3,p.P86L|ENST00000377574,p.P268L|uc009ypr.1,p.P293L|ENST00000473690,p.P47L|uc009yps.2,p.P234L|uc001oal.2,p.P47L|NM_153378,p.P47L|NM_144585,p.P268L|ENST00000336464,p.P234L|NM_001276326,p.P234L	protein_coding	uc009ypt.3	nonsynonymous SNV	exon2	c.C257T	p.P86L	RDWTLLQLVVSVPFFLCFLYSWWLA	RDWTLLQLVVSVLFFLCFLYSWWLA	1.0	7.0	unscreened	-	3713_11:64361248-64361248 C>T_RDWTLLQLVVSVLFFLCFLYSWWLA
16:76528909-76528909 G>A	0.0	3713	MELANOMA	-	-	-	-	CNTNAP4	uc002fex.1,p.G731E|NM_138994,p.G655E|uc002fev.1,p.G592E|uc010chb.1,p.G655E|ENST00000377504,p.G679E|ENST00000476707,p.G731E|ENST00000307431,p.G727E|ENST00000478060,p.G655E|uc002few.2,p.G703E	retained_intron, protein_coding, processed_transcript, TEC	uc010chb.1	nonsynonymous SNV	exon13	c.G1964A	p.G655E	SPDLQKCTCGLEGNCIDSQYYCNCD	SPDLQKCTCGLEENCIDSQYYCNCD	1.0	3.0	unscreened	-	3713_16:76528909-76528909 G>A_SPDLQKCTCGLEENCIDSQYYCNCD
5:156770334-156770334 G>A	0.0	3713	MELANOMA	-	-	-	-	FNDC9	ENST00000520782,p.L71F|NM_001001343,p.L71F|uc003lwu.2,p.L71F|uc021ygp.1,p.L71F|ENST00000312349,p.L71F	protein_coding	uc021ygp.1	nonsynonymous SNV	exon1	c.C211T	p.L71F	SSVVLEHLAPSTLYFLCISCKKAAF	SSVVLEHLAPSTFYFLCISCKKAAF	1.0	3.0	unscreened	-	3713_5:156770334-156770334 G>A_SSVVLEHLAPSTFYFLCISCKKAAF
5:75954380-75954380 G>A	0.0	3713	MELANOMA	-	-	-	-	IQGAP2	ENST00000514350,p.R779Q|NM_001285462,p.R302Q|NM_001285461,p.R302Q|ENST00000379730,p.R308Q|ENST00000505766,p.R756Q|ENST00000514001,p.R359Q|ENST00000502745,p.R302Q|uc003kel.3,p.R302Q|uc011csv.2,p.R302Q|ENST00000274364,p.R806Q|ENST00000396234,p.R302Q|uc003kek.3,p.R806Q|NM_001285460,p.R756Q|NM_006633,p.R806Q|uc010izv.2,p.R359Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011csv.2	nonsynonymous SNV	exon9	c.G905A	p.R302Q	SDLDFQEELEVARLREEVVTKIRAN	SDLDFQEELEVAQLREEVVTKIRAN	6.0	7.0	unscreened	-	3713_5:75954380-75954380 G>A_SDLDFQEELEVAQLREEVVTKIRAN
10:96802736-96802736 C>T	0.0	3713	MELANOMA	-	-	-	2	CYP2C8	ENST00000535898,p.E252K|NM_000770,p.E354K|uc021pwl.1,p.E284K|uc001kkb.3,p.E354K|NM_001198855,p.E284K|ENST00000371270,p.E354K|NM_001198853,p.E284K|NM_001198854,p.E252K|uc010qoa.2,p.E284K|ENST00000539050,p.E268K|ENST00000527420,p.E354K|uc010qod.1,p.E268K|uc010qoc.2,p.E252K|uc010qob.2,p.E268K	retained_intron, protein_coding, nonsense_mediated_decay	uc021pwl.1	nonsynonymous SNV	exon8	c.G850A	p.E284K	RSHMPYTDAVVHEIQRYSDLVPTGV	RSHMPYTDAVVHKIQRYSDLVPTGV	1.0	4.0	unscreened	-	3713_10:96802736-96802736 C>T_RSHMPYTDAVVHKIQRYSDLVPTGV
7:150819863-150819863 C>A	1.0	3713	MELANOMA	-	-	-	-	AGAP3	ENST00000473312,p.L394I|ENST00000479901,p.L341I|uc003wjf.1,p.L394I|ENST00000335367,p.L574I|ENST00000468796,p.L175I|uc010lpy.1,p.L341I|uc003wjh.1,p.L574I|NM_001042535,p.L394I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lpy.1	nonsynonymous SNV	exon8	c.C1021A	p.L341I	SNFSSTKRPFQLLPN	SNFSSTKRPFQLIPN	10.0	4.0	-	-	3713_7:150819863-150819863 C>A_SNFSSTKRPFQLIPN
2:18764242-18764242 T>C	1.0	3713	MELANOMA	-	-	-	-	NT5C1B,NT5C1B-RDH14	uc010exs.3,p.R367G|uc010yju.2,p.R305G|NM_001199103,p.R307G|ENST00000600945,p.R365G|NM_001199086,p.R348G|uc010yjw.2,p.R348G|uc002rcy.3,p.R365G|NM_001199087,p.R382G|uc010yjv.2,p.R382G|NM_001199088,p.R367G|NM_001199104,p.R365G|ENST00000359846,p.R365G|ENST00000304081,p.R305G|NM_001002006,p.R365G|ENST00000532967,p.R365G|uc002rda.3,p.R305G|ENST00000444297,p.R307G|NM_033253,p.R305G|uc010exr.3,p.R307G|uc002rcz.3,p.R365G	retained_intron, processed_transcript,protein_coding, protein_coding, nonsense_mediated_decay	uc010yjw.2	nonsynonymous SNV	exon7	c.A1042G	p.R348G	FRFVKALQYVNARLRDLYPDEQDLF	FRFVKALQYVNAGLRDLYPDEQDLF	1.0	10.0	unscreened	-	3713_2:18764242-18764242 T>C_FRFVKALQYVNAGLRDLYPDEQDLF
2:167136899-167136899 C>T	1.0	3713	MELANOMA	-	-	ID=COSM207709;OCCURENCE=1(large_intestine)	-	SCN9A	uc010fpl.3,p.E760K|ENST00000303354,p.E772K|ENST00000375387,p.E772K|ENST00000409435,p.E771K|ENST00000409672,p.E760K|NM_002977,p.E760K	retained_intron, protein_coding	uc010fpl.3	nonsynonymous SNV	exon14	c.G2278A	p.E760K	LFMAMEHHPMTEEFKNVLAIGNLVF	LFMAMEHHPMTEKFKNVLAIGNLVF	1.0	4.0	unscreened	-	3713_2:167136899-167136899 C>T_LFMAMEHHPMTEKFKNVLAIGNLVF
18:3134693-3134693 G>A	1.0	3713	MELANOMA	-	-	-	-	MYOM1	NM_019856,p.S780F|NM_003803,p.S780F|uc002klp.3,p.S780F|ENST00000400569,p.S780F|uc002klq.3,p.S780F|ENST00000261606,p.S780F|ENST00000356443,p.S780F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002klq.3	nonsynonymous SNV	exon16	c.C2339T	p.S780F	LVGYYIEASVAGSGKWEPCNNNPVK	LVGYYIEASVAGFGKWEPCNNNPVK	1.0	5.0	unscreened	-	3713_18:3134693-3134693 G>A_LVGYYIEASVAGFGKWEPCNNNPVK
4:113505251-113505251 C>T	1.0	3713	MELANOMA	-	-	-	-	ZGRF1	ENST00000445413,p.G292E|uc003iau.3,p.G1394E|NM_018392,p.G1394E|ENST00000505019,p.G1394E	retained_intron, protein_coding, nonsense_mediated_decay	uc003iau.3	nonsynonymous SNV	exon15	c.G4181A	p.G1394E	CKFFKWLEDVTPGYSTQEGARPGMV	CKFFKWLEDVTPEYSTQEGARPGMV	3.0	7.0	unscreened	-	3713_4:113505251-113505251 C>T_CKFFKWLEDVTPEYSTQEGARPGMV
5:38352394-38352394 G>A	0.0	3713	MELANOMA	-	-	-	-	EGFLAM	uc003jlb.2,p.G169E|NM_001205301,p.G169E|uc003jlc.2,p.G169E|NM_152403,p.G169E|ENST00000322350,p.G169E|ENST00000354891,p.G169E	retained_intron, protein_coding, nonsense_mediated_decay	uc003jlc.2	nonsynonymous SNV	exon5	c.G506A	p.G169E	EVALSWKPGASEGSAPIQYYSVEFI	EVALSWKPGASEESAPIQYYSVEFI	3.0	8.0	unscreened	-	3713_5:38352394-38352394 G>A_EVALSWKPGASEESAPIQYYSVEFI
16:24801460-24801460 G>A	1.0	3713	MELANOMA	-	-	-	-	TNRC6A	uc002dmm.3,p.M499I|ENST00000315183,p.M499I|NM_014494,p.M499I|uc002dmn.3,p.M246I|uc002dmo.3,p.M246I|ENST00000395799,p.M499I|uc010bxs.3,p.M246I|uc010vcc.1,p.M246I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vcc.1	nonsynonymous SNV	exon1	c.G738A	p.M246I	TMNHPQMQAPSGMNGTSLSHLSNGE	TMNHPQMQAPSGINGTSLSHLSNGE	9.0	7.0	-	-	3713_16:24801460-24801460 G>A_TMNHPQMQAPSGINGTSLSHLSNGE
11:55944940-55944940 C>T	0.0	3713	MELANOMA	-	-	-	-	OR5J2	ENST00000312298,p.P283S|uc010rjb.2,p.P283S|NM_001005492,p.P283S	protein_coding	uc010rjb.2	nonsynonymous SNV	exon1	c.C847T	p.P283S	EKVVSMFYTLGIPMLNLLIHSLRNK	EKVVSMFYTLGISMLNLLIHSLRNK	1.0	2.0	unscreened	-	3713_11:55944940-55944940 C>T_EKVVSMFYTLGISMLNLLIHSLRNK
6:158489720-158489720 G>A	1.0	3713	MELANOMA	-	-	-	-	SYNJ2	uc003qqz.2,p.E204K|ENST00000355585,p.E587K|ENST00000367122,p.E587K|NM_001178088,p.E350K|ENST00000367121,p.E587K|uc003qqy.2,p.E350K|NM_003898,p.E587K|uc003qqx.2,p.E587K|uc003qqw.2,p.E587K	protein_coding, nonsense_mediated_decay	uc003qqz.2	nonsynonymous SNV	exon7	c.G610A	p.E204K	SSPADIFAVGFEEMVELSAGNIVNA	SSPADIFAVGFEKMVELSAGNIVNA	4.0	3.0	unscreened	-	3713_6:158489720-158489720 G>A_SSPADIFAVGFEKMVELSAGNIVNA
5:176863157-176863157 G>A	1.0	3713	MELANOMA	-	-	-	-	GRK6	NM_002082,p.G381S|NM_001004105,p.G381S|uc003mgq.2,p.G381S|ENST00000528793,p.G381S|uc021yit.1,p.G381S|ENST00000393576,p.G347S|ENST00000355472,p.G381S|NM_001004106,p.G381S|ENST00000507633,p.G381S|uc003mgs.1,p.G351S|uc021yiu.1,p.G381S|ENST00000355958,p.G381S	retained_intron, protein_coding, nonsense_mediated_decay	uc021yiu.1	nonsynonymous SNV	exon12	c.G1141A	p.G381S	WALGCLLYEMIAGQSPFQQRKKKIK	WALGCLLYEMIASQSPFQQRKKKIK	7.0	8.0	-	-	3713_5:176863157-176863157 G>A_WALGCLLYEMIASQSPFQQRKKKIK
7:150217232-150217232 G>A	0.0	3713	MELANOMA	-	-	-	-	GIMAP7	uc022apu.1,p.R57K|NM_153236,p.R57K|ENST00000313543,p.R57K|uc003whk.3,p.R57K	protein_coding	uc022apu.1	nonsynonymous SNV	exon1	c.G170A	p.R57K	KNCQKASREWQGRDLLVVDTPGLFD	KNCQKASREWQGKDLLVVDTPGLFD	8.0	8.0	unscreened	-	3713_7:150217232-150217232 G>A_KNCQKASREWQGKDLLVVDTPGLFD
9:79325538-79325538 G>A	1.0	3713	MELANOMA	-	-	-	-	PRUNE2	ENST00000376718,p.S551F|uc022bih.1,p.S373F|NM_015225,p.S551F|ENST00000428286,p.S192F|uc010mpk.3,p.S551F	protein_coding, processed_transcript	uc022bih.1	nonsynonymous SNV	exon7	c.C1118T	p.S373F	LDGMGTNMSNYSSSSLLSGAGKDSL	LDGMGTNMSNYSFSSLLSGAGKDSL	2.0	5.0	-	-	3713_9:79325538-79325538 G>A_LDGMGTNMSNYSFSSLLSGAGKDSL
18:10672857-10672857 C>T	0.0	3713	MELANOMA	-	-	-	-	PIEZO2	ENST00000302079,p.M2549I|ENST00000580640,p.M2637I|NM_022068,p.M2612I|uc002kos.2,p.M2612I|ENST00000503781,p.M2612I|uc002koq.3,p.M404I|ENST00000538948,p.M569I|ENST00000285141,p.M404I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kos.2	nonsynonymous SNV	exon51	c.G7836A	p.M2612I	KPIKQLLSENNFMDITIILSRDNTT	KPIKQLLSENNFIDITIILSRDNTT	2.0	4.0	unscreened	-	3713_18:10672857-10672857 C>T_KPIKQLLSENNFIDITIILSRDNTT
11:64508916-64508916 C>T	0.0	3713	MELANOMA	-	-	-	-	RASGRP2	ENST00000421556,p.G52S|ENST00000394429,p.G55S|ENST00000394428,p.G52S	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000421556	nonsynonymous SNV	exon4	c.G154A	p.G52S	QLQFPAGENVPPGQVLDLRLPSGV	QLQFPAGENVPPSQVLDLRLPSGV	6.0	1.0	unscreened	-	3713_11:64508916-64508916 C>T_QLQFPAGENVPPSQVLDLRLPSGV
1:247875702-247875702 G>A	0.0	3713	MELANOMA	-	-	-	-	OR6F1	ENST00000302084,p.A119V|uc001idj.1,p.A119V|NM_001005286,p.A119V	protein_coding	uc001idj.1	nonsynonymous SNV	exon1	c.C356T	p.A119V	LGCTEYFLLAAMAYDRCLAICYPLH	LGCTEYFLLAAMVYDRCLAICYPLH	1.0	8.0	unscreened	-	3713_1:247875702-247875702 G>A_LGCTEYFLLAAMVYDRCLAICYPLH
2:40657293-40657293 C>T	1.0	3713	MELANOMA	-	-	-	-	SLC8A1	NM_021097,p.G43E|ENST00000402441,p.G43E|ENST00000542024,p.G43E|ENST00000406391,p.G43E|NM_001252624,p.G43E|ENST00000448531,p.G43E|ENST00000455476,p.G43E|NM_001112801,p.G43E|NM_001112800,p.G43E|uc002rsc.1,p.G43E|uc002rrx.3,p.G43E|ENST00000417271,p.G43E|uc002rrz.3,p.G43E|NM_001112802,p.G43E|uc010fan.1,p.G43E|uc002rry.3,p.G43E|uc002rsa.3,p.G43E|ENST00000408028,p.G43E|ENST00000407929,p.G40E|ENST00000403092,p.G43E|ENST00000542756,p.G43E|ENST00000406785,p.G43E|uc002rsb.2,p.G43E|ENST00000405269,p.G43E|ENST00000405901,p.G43E|ENST00000332839,p.G43E|uc002rsd.4,p.G43E	protein_coding, nonsense_mediated_decay	uc010fan.1	nonsynonymous SNV	exon3	c.G128A	p.G43E	DHVIAETEMEGEGNETGECTGSYYC	DHVIAETEMEGEENETGECTGSYYC	4.0	6.0	-	-	3713_2:40657293-40657293 C>T_DHVIAETEMEGEENETGECTGSYYC
7:82586163-82586163 C>T	1.0	3713	MELANOMA	-	-	-	-	PCLO	ENST00000423517,p.G1369E|NM_014510,p.G1369E|NM_033026,p.G1369E|ENST00000333891,p.G1369E|uc003uhv.2,p.G1369E|uc003uhx.2,p.G1369E	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon5	c.G4106A	p.G1369E	PQGLSDTGYSSDGISSSLGEIPSLI	PQGLSDTGYSSDEISSSLGEIPSLI	2.0	9.0	unscreened	-	3713_7:82586163-82586163 C>T_PQGLSDTGYSSDEISSSLGEIPSLI
19:23544784-23544784 G>T	0.0	3713	MELANOMA	-	-	-	-	ZNF91	ENST00000300619,p.R333S|NM_001300951,p.R301S|uc002nre.3,p.R333S|ENST00000397082,p.R301S|NM_003430,p.R333S|uc010xrj.2,p.R301S	retained_intron, protein_coding, processed_transcript	uc010xrj.2	nonsynonymous SNV	exon3	c.C901A	p.R301S	PYKCEECGKAFSRSSTLAKHKRIHT	PYKCEECGKAFSSSSTLAKHKRIHT	7.0	1.0	unscreened	-	3713_19:23544784-23544784 G>T_PYKCEECGKAFSSSSTLAKHKRIHT
5:66449376-66449376 G>A	1.0	3713	MELANOMA	-	-	-	-	MAST4	NM_015183,p.V1017I|uc021xzk.1,p.V1206I|NM_001297651,p.V1012I|ENST00000403625,p.V1206I|NM_001164664,p.V1206I|NM_001290227,p.V945I|ENST00000405643,p.V1027I|ENST00000261569,p.V1012I|ENST00000404260,p.V1209I|NM_001290226,p.V1000I|uc003juw.3,p.V945I|ENST00000403666,p.V1017I|uc003jut.2,p.V1017I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xzk.1	nonsynonymous SNV	exon26	c.G3616A	p.V1206I	ITHINGEPVHGLVHTEVIELLLKSG	ITHINGEPVHGLIHTEVIELLLKSG	3.0	7.0	unscreened	-	3713_5:66449376-66449376 G>A_ITHINGEPVHGLIHTEVIELLLKSG
12:55863565-55863565 G>A	0.0	3713	MELANOMA	-	-	-	-	OR6C70	ENST00000327335,p.R120C|NM_001005499,p.R120C|uc010spn.2,p.R120C	protein_coding	uc010spn.2	nonsynonymous SNV	exon1	c.C358T	p.R120C	TEFFLLAALSYDRYVAICKPLRYMS	TEFFLLAALSYDCYVAICKPLRYMS	1.0	4.0	unscreened	-	3713_12:55863565-55863565 G>A_TEFFLLAALSYDCYVAICKPLRYMS
6:42074004-42074004 G>A	0.0	3713	MELANOMA	-	-	-	-	C6orf132	NM_001164446,p.P549L|ENST00000341865,p.P549L|uc003orw.2,p.P549L	protein_coding	uc003orw.2	nonsynonymous SNV	exon4	c.C1646T	p.P549L	LTETEAAPSLTLPSVDYIPQDSPTP	LTETEAAPSLTLLSVDYIPQDSPTP	1.0	1.0	unscreened	-	3713_6:42074004-42074004 G>A_LTETEAAPSLTLLSVDYIPQDSPTP
19:20045509-20045509 C>T	1.0	3713	MELANOMA	-	-	-	-	ZNF93	ENST00000343769,p.S582L|uc002non.3,p.S582L|NM_031218,p.S582L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002non.3	nonsynonymous SNV	exon4	c.C1745T	p.S582L	CGKAFNHSATLSSHKKIHSGEKPYE	CGKAFNHSATLSLHKKIHSGEKPYE	3.0	8.0	-	-	3713_19:20045509-20045509 C>T_CGKAFNHSATLSLHKKIHSGEKPYE
2:188223985-188223985 G>A	0.0	3713	MELANOMA	-	-	-	-	CALCRL	uc002upv.5,p.P266S|ENST00000392370,p.P266S|ENST00000409998,p.P266S|ENST00000410068,p.P266S|uc010frt.4,p.P266S|NM_001271751,p.P266S|NM_005795,p.P266S	retained_intron, protein_coding, processed_transcript	uc010frt.4	nonsynonymous SNV	exon10	c.C796T	p.P266S	WYYFLGWGFPLIPACIHAIARSLYY	WYYFLGWGFPLISACIHAIARSLYY	3.0	10.0	unscreened	-	3713_2:188223985-188223985 G>A_WYYFLGWGFPLISACIHAIARSLYY
12:41327275-41327275 C>T	0.0	3713	MELANOMA	-	-	-	-	CNTN1	ENST00000360099,p.P239L|NM_001843,p.P239L|uc001rmo.4,p.P239L|ENST00000348761,p.P228L|NM_001256064,p.P239L|uc031qgz.1,p.P228L|NM_001256063,p.P239L|ENST00000547702,p.P239L|uc001rmm.2,p.P239L|ENST00000347616,p.P239L|NM_175038,p.P228L|ENST00000551295,p.P239L|uc009zjy.3,p.P239L|ENST00000547849,p.P239L	protein_coding, processed_transcript, nonsense_mediated_decay	uc031qgz.1	nonsynonymous SNV	exon6	c.C683T	p.P228L	IPLIPIPERTTKPYPADIVVQFKDV	IPLIPIPERTTKLYPADIVVQFKDV	1.0	10.0	unscreened	-	3713_12:41327275-41327275 C>T_IPLIPIPERTTKLYPADIVVQFKDV
X:7812025-7812025 G>C	1.0	3713	MELANOMA	-	-	-	-	VCX	uc004crz.3,p.E197Q|NM_013452,p.E197Q|ENST00000341408,p.E177Q|ENST00000381059,p.E197Q	protein_coding	uc004crz.3	nonsynonymous SNV	exon3	c.G589C	p.E197Q	SQESQVEEPPSQESEMEELPSV	SQESQVEEPPSQQSEMEELPSV	1.0	1.0	unscreened	-	3713_X:7812025-7812025 G>C_SQESQVEEPPSQQSEMEELPSV
1:85817239-85817239 A>T	1.0	3713	MELANOMA	-	-	-	-	DDAH1	uc009wco.3,p.S40T|ENST00000542148,p.S43T|uc010osb.2,p.S43T|uc001dlb.3,p.S143T|ENST00000426972,p.S50T|uc001dlc.3,p.S40T|ENST00000539042,p.S143T|ENST00000535924,p.S40T|NM_001134445,p.S40T|ENST00000284031,p.S143T|NM_012137,p.S143T	protein_coding, processed_transcript	uc010osb.2	nonsynonymous SNV	exon3	c.T127A	p.S43T	VLFTGREFFVGLSKRTNQRGAEILA	VLFTGREFFVGLTKRTNQRGAEILA	6.0	9.0	unscreened	-	3713_1:85817239-85817239 A>T_VLFTGREFFVGLTKRTNQRGAEILA
3:148459441-148459441 C>T	0.0	3713	MELANOMA	-	-	-	-	AGTR1	uc021xfj.1,p.P207S|NM_031850,p.P242S|uc003ewk.4,p.P236S|NM_000685,p.P207S|NM_004835,p.P242S|ENST00000497524,p.P207S|uc003ewg.4,p.P242S|ENST00000542281,p.P207S|ENST00000461609,p.P207S|ENST00000404754,p.P207S|ENST00000349243,p.P207S|uc003ewj.3,p.P207S|NM_009585,p.P207S|ENST00000418473,p.P207S|uc003ewi.3,p.P207S|NM_032049,p.P236S|ENST00000402260,p.P207S|ENST00000474935,p.P207S|uc003ewh.4,p.P242S|ENST00000475347,p.P207S	protein_coding, processed_transcript	uc021xfj.1	nonsynonymous SNV	exon1	c.C619T	p.P207S	LGLTKNILGFLFPFLIILTSYTLIW	LGLTKNILGFLFSFLIILTSYTLIW	1.0	10.0	unscreened	-	3713_3:148459441-148459441 C>T_LGLTKNILGFLFSFLIILTSYTLIW
12:4771706-4771706 G>A	1.0	3713	MELANOMA	-	-	-	-	NDUFA9	uc001qnc.3,p.G187E|uc009zei.2,p.G187E|ENST00000266544,p.G187E|NM_005002,p.G187E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zei.2	nonsynonymous SNV	exon6	c.G560A	p.G187E	KSSSRYLRNKAVGEKVVRDAFPEAI	KSSSRYLRNKAVEEKVVRDAFPEAI	6.0	9.0	-	-	3713_12:4771706-4771706 G>A_KSSSRYLRNKAVEEKVVRDAFPEAI
18:47566609-47566609 T>A	0.0	3713	MELANOMA	-	-	-	-	MYO5B	ENST00000285039,p.N72Y|uc021ukb.1,p.N71Y|uc002leb.2,p.N72Y|NM_001080467,p.N72Y	retained_intron, protein_coding, processed_transcript	uc021ukb.1	nonsynonymous SNV	exon3	c.A211T	p.N71Y	PFLRNPDILVGENDLTALSYLHEPA	PFLRNPDILVGEYDLTALSYLHEPA	1.0	8.0	unscreened	-	3713_18:47566609-47566609 T>A_PFLRNPDILVGEYDLTALSYLHEPA
1:157660321-157660321 G>A	0.0	3713	MELANOMA	-	-	-	-	FCRL3	ENST00000477837,p.P377S|NM_052939,p.P472S|uc001fqz.4,p.P472S|uc001fra.3,p.P198S|ENST00000492769,p.P478S|ENST00000485028,p.P472S|ENST00000368184,p.P472S|ENST00000368186,p.P472S|uc001frc.1,p.P472S|uc001frb.3,p.P472S	protein_coding, processed_transcript, nonsense_mediated_decay	uc001frc.1	nonsynonymous SNV	exon9	c.C1414T	p.P472S	QHSHGVSLRVTVPVSRPVLTLRAPG	QHSHGVSLRVTVSVSRPVLTLRAPG	5.0	3.0	unscreened	-	3713_1:157660321-157660321 G>A_QHSHGVSLRVTVSVSRPVLTLRAPG
15:75182975-75182975 G>A	1.0	3713	MELANOMA	-	-	-	-	MPI	uc002azd.1,p.E42K|ENST00000323744,p.E42K|uc010ulv.2,p.E42K|ENST00000569931,p.E22K|NM_001289155,p.E42K|NM_001289157,p.E42K|ENST00000562606,p.E22K|ENST00000563786,p.E22K|ENST00000568907,p.E42K|ENST00000565576,p.E42K|uc002azc.1,p.E42K|uc002aze.1,p.E42K|ENST00000563422,p.E42K|ENST00000564633,p.E22K|ENST00000567570,p.E22K|ENST00000567177,p.E29K|ENST00000352410,p.E42K|ENST00000566377,p.E42K|ENST00000567132,p.E42K|ENST00000562800,p.E42K|NM_002435,p.E42K	retained_intron, protein_coding, nonsense_mediated_decay	uc010ulv.2	nonsynonymous SNV	exon2	c.G124A	p.E42K	LLASSDPLAQIAEDKPYAELWMGTH	LLASSDPLAQIAKDKPYAELWMGTH	6.0	6.0	-	-	3713_15:75182975-75182975 G>A_LLASSDPLAQIAKDKPYAELWMGTH
5:848756-848756 G>A	0.0	3713	MELANOMA	-	-	-	-	ZDHHC11	ENST00000424784,p.S81L|uc011cma.1,p.S81L|ENST00000283441,p.S81L|NM_024786,p.S81L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cma.1	nonsynonymous SNV	exon2	c.C242T	p.S81L	KYIAYVVTGGIFSFHLVVHLIASCI	KYIAYVVTGGIFLFHLVVHLIASCI	2.0	4.0	unscreened	-	3713_5:848756-848756 G>A_KYIAYVVTGGIFLFHLVVHLIASCI
1:60359363-60359363 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1687782;OCCURENCE=1(skin)	-	CYP2J2	uc001czq.3,p.S490F|NM_000775,p.S490F|ENST00000371204,p.S490F	protein_coding, processed_transcript	uc001czq.3	nonsynonymous SNV	exon9	c.C1469T	p.S490F	KLSLKFRMGITISPVSHRLCAVPQV	KLSLKFRMGITIFPVSHRLCAVPQV	1.0	4.0	unscreened	-	3713_1:60359363-60359363 G>A_KLSLKFRMGITIFPVSHRLCAVPQV
6:121602814-121602814 C>T	1.0	3713	MELANOMA	-	-	-	-	TBC1D32	NM_152730,p.S495N|ENST00000275159,p.S495N|uc003pyp.1,p.S14N|uc003pyo.1,p.S495N|ENST00000398212,p.S495N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pyp.1	nonsynonymous SNV	exon3	c.G41A	p.S14N	TSAAHSENYSPASMVTEVLWILSDQ	TSAAHSENYSPANMVTEVLWILSDQ	2.0	10.0	unscreened	-	3713_6:121602814-121602814 C>T_TSAAHSENYSPANMVTEVLWILSDQ
20:13279685-13279685 C>T	0.0	3713	MELANOMA	-	-	-	-	ISM1	uc010gce.1,p.S325F|NM_080826,p.S325F|ENST00000447521,p.S279F|ENST00000262487,p.S325F	protein_coding	uc010gce.1	nonsynonymous SNV	exon6	c.C974T	p.S325F	HKVMNDLPSCPCSYPTEVAYSTADI	HKVMNDLPSCPCFYPTEVAYSTADI	1.0	9.0	unscreened	-	3713_20:13279685-13279685 C>T_HKVMNDLPSCPCFYPTEVAYSTADI
11:44948282-44948282 C>T	0.0	3713	MELANOMA	-	-	-	-	TSPAN18	uc001myg.3,p.L225F	retained_intron, protein_coding	uc001myg.3	nonsynonymous SNV	exon6	c.C673T	p.L225F	NTFETYVYLAGALAIGVLAIEEERA	NTFETYVYLAGAFAIGVLAIEEERA	4.0	2.0	unscreened	-	3713_11:44948282-44948282 C>T_NTFETYVYLAGAFAIGVLAIEEERA
14:45478252-45478252 C>T	1.0	3713	MELANOMA	-	-	-	-	FAM179B	ENST00000361577,p.S1014F|NM_015091,p.S1014F|uc001wvw.3,p.S1014F|ENST00000361462,p.S1014F|uc001wvv.3,p.S1014F	retained_intron, protein_coding, nonsense_mediated_decay	uc001wvw.3	nonsynonymous SNV	exon6	c.C3041T	p.S1014F	KLDLTMDSPSLSSSPNINSYSESGV	KLDLTMDSPSLSFSPNINSYSESGV	4.0	9.0	-	-	3713_14:45478252-45478252 C>T_KLDLTMDSPSLSFSPNINSYSESGV
11:10826522-10826546 ATAGCTTGTCAAACTTTTCAGGAGT>-	0.0	3713	MELANOMA	-	-	-	-	EIF4G2	ENST00000526148,p.T89fs|ENST00000524932,p.T89fs|ENST00000532082,p.T89fs|ENST00000339995,p.T89fs|ENST00000531416,p.T89fs|ENST00000527526,p.T89fs|ENST00000532570,p.T89fs|ENST00000530702,p.T67fs|NM_001172705,p.T89fs|ENST00000530211,p.T89fs|ENST00000527419,p.T20fs|NM_001042559,p.T89fs|uc009ygf.3,p.T89fs|NM_001418,p.T89fs|uc001mjd.3,p.T89fs|ENST00000396525,p.T89fs|ENST00000525681,p.T89fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009ygf.3	frameshift deletion	exon5	c.265_289del	p.T89fs	IFRKVRGILNKLTPEKFDKLCLELL	IFRKVRGILNKLALSSSMWV	10.0	4.0	unscreened	-	3713_11:10826522-10826546 ATAGCTTGTCAAACTTTTCAGGAGT>-_IFRKVRGILNKLALSSSMWV
4:126239512-126239512 G>T	1.0	3713	MELANOMA	-	-	-	1	FAT4	ENST00000394329,p.R649I|NM_024582,p.R649I|uc003ifj.4,p.R649I|NM_001291303,p.R649I|NM_001291285,p.R649I	retained_intron, protein_coding	uc003ifj.4	nonsynonymous SNV	exon1	c.G1946T	p.R649I	VSGRLSTISSLDREEQAFYSLLVLA	VSGRLSTISSLDIEEQAFYSLLVLA	1.0	9.0	unscreened	-	3713_4:126239512-126239512 G>T_VSGRLSTISSLDIEEQAFYSLLVLA
2:238253199-238253199 C>T	0.0	3713	MELANOMA	-	-	-	-	COL6A3	NM_004369,p.E2488K|ENST00000353578,p.E2282K|uc002vwl.2,p.E2488K|uc010znj.1,p.E1881K|ENST00000347401,p.E2287K|ENST00000346358,p.E2288K|ENST00000295550,p.E2488K|NM_057166,p.E1881K|uc002vwo.2,p.E2282K|NM_057167,p.E2282K|ENST00000472056,p.E1881K|uc002vwp.1,p.E309K|ENST00000409809,p.E2282K	retained_intron, protein_coding, processed_transcript	uc010znj.1	nonsynonymous SNV	exon33	c.G5641A	p.E1881K	LQVALTSKQQSLETAMSFVARNTFK	LQVALTSKQQSLKTAMSFVARNTFK	10.0	4.0	unscreened	-	3713_2:238253199-238253199 C>T_LQVALTSKQQSLKTAMSFVARNTFK
10:26385335-26385335 T>C	0.0	3713	MELANOMA	-	-	-	-	MYO3A	uc009xkq.1,p.Y530H|uc001isn.2,p.Y530H|NM_017433,p.Y530H|ENST00000265944,p.Y530H|uc009xko.1,p.Y530H|ENST00000543632,p.Y530H	protein_coding, processed_transcript	uc009xkq.1	nonsynonymous SNV	exon15	c.T1588C	p.Y530H	HQAIGEKNFHIFYYIYAGLAEKKKL	HQAIGEKNFHIFHYIYAGLAEKKKL	1.0	4.0	unscreened	-	3713_10:26385335-26385335 T>C_HQAIGEKNFHIFHYIYAGLAEKKKL
9:101006303-101006303 G>A	1.0	3713	MELANOMA	-	-	-	-	TBC1D2	ENST00000375064,p.S207F|NM_018421,p.S207F|uc004ayq.3,p.S207F|ENST00000375066,p.S207F|NM_001267571,p.S207F|uc011lvb.2,p.S207F	protein_coding, processed_transcript	uc011lvb.2	nonsynonymous SNV	exon3	c.C620T	p.S207F	AALQPFPALQNISLKHLGTEIQNTM	AALQPFPALQNIFLKHLGTEIQNTM	4.0	8.0	-	-	3713_9:101006303-101006303 G>A_AALQPFPALQNIFLKHLGTEIQNTM
1:178436503-178436503 C>T	1.0	3713	MELANOMA	-	-	-	-	RASAL2	NM_004841,p.H1068Y|NM_170692,p.H1209Y|uc001glq.3,p.H1209Y|uc001glr.3,p.H1068Y|ENST00000367649,p.H1209Y|ENST00000462775,p.H1068Y|ENST00000448150,p.H1198Y|uc009wxc.3,p.H582Y	retained_intron, protein_coding, processed_transcript	uc009wxc.3	nonsynonymous SNV	exon7	c.C1744T	p.H582Y	RLMAVEEELKKDHAEMQAVIDAKQK	RLMAVEEELKKDYAEMQAVIDAKQK	5.0	1.0	unscreened	-	3713_1:178436503-178436503 C>T_RLMAVEEELKKDYAEMQAVIDAKQK
X:27766139-27766139 C>T	0.0	3713	MELANOMA	-	-	-	-	DCAF8L2	NM_001136533,p.P376L|ENST00000451261,p.P376L|uc011mjy.2,p.P376L	protein_coding, processed_transcript	uc011mjy.2	nonsynonymous SNV	exon1	c.C1127T	p.P376L	DKKVGLYTITVNPANTYQFAVGGQD	DKKVGLYTITVNLANTYQFAVGGQD	1.0	6.0	unscreened	-	3713_X:27766139-27766139 C>T_DKKVGLYTITVNLANTYQFAVGGQD
10:86131262-86131262 T>C	1.0	3713	MELANOMA	-	-	-	-	CCSER2	uc001kdh.1,p.F152L|NM_001284240,p.F152L|NM_018999,p.F152L|uc010qmd.1,p.F152L|ENST00000372088,p.F152L|ENST00000359979,p.F152L|ENST00000224756,p.F152L|uc001kdg.1,p.F152L|NM_001284241,p.F152L	protein_coding, processed_transcript	uc010qmd.1	nonsynonymous SNV	exon2	c.T454C	p.F152L	QKSFSGPSNLGKFTKGTLLGRTSYS	QKSFSGPSNLGKLTKGTLLGRTSYS	7.0	6.0	-	-	3713_10:86131262-86131262 T>C_QKSFSGPSNLGKLTKGTLLGRTSYS
16:57609004-57609004 G>A	0.0	3713	MELANOMA	-	-	-	-	GPR114	NM_153837,p.G496S|ENST00000349457,p.G496S|uc002elx.4,p.G496S|uc002ely.3,p.G496S|ENST00000340339,p.G496S	retained_intron, protein_coding, processed_transcript	uc002ely.3	nonsynonymous SNV	exon11	c.G1486A	p.G496S	QLFLFTILNSLYGFFLFLWFCSQRC	QLFLFTILNSLYSFFLFLWFCSQRC	2.0	6.0	unscreened	-	3713_16:57609004-57609004 G>A_QLFLFTILNSLYSFFLFLWFCSQRC
11:107686521-107686521 C>T	1.0	3713	MELANOMA	-	-	-	-	SLC35F2	uc001pjs.3,p.R94Q|ENST00000429869,p.R94Q|ENST00000525071,p.R94Q|NM_017515,p.R94Q|uc001pjq.3,p.R94Q|ENST00000532513,p.R94Q|ENST00000375682,p.R47Q|ENST00000525815,p.R94Q	protein_coding, nonsense_mediated_decay	uc001pjs.3	nonsynonymous SNV	exon2	c.G281A	p.R94Q	LLFLIYTVMLAFRSGSDNLLVILKR	LLFLIYTVMLAFQSGSDNLLVILKR	3.0	7.0	unscreened	-	3713_11:107686521-107686521 C>T_LLFLIYTVMLAFQSGSDNLLVILKR
2:25141769-25141769 G>A	1.0	3713	MELANOMA	0.0014	-	-	-	ADCY3	uc002rfs.4,p.R30C|ENST00000260600,p.R30C|ENST00000438445,p.R30C|ENST00000435135,p.R30C|NM_004036,p.R30C|uc010ykm.2,p.R30C	retained_intron, protein_coding, processed_transcript	uc010ykm.2	nonsynonymous SNV	exon1	c.C88T	p.R30C	AEYSVSLPSDPDRGVGRTHEISVRN	AEYSVSLPSDPDCGVGRTHEISVRN	9.0	4.0	unscreened	-	3713_2:25141769-25141769 G>A_AEYSVSLPSDPDCGVGRTHEISVRN
2:97873563-97873563 C>T	1.0	3713	MELANOMA	-	-	-	-	ANKRD36	NM_001164315,p.P1060L|uc010yva.2,p.P1060L|ENST00000420699,p.P1060L|ENST00000461153,p.P1060L	retained_intron, protein_coding	uc010yva.2	nonsynonymous SNV	exon53	c.C3179T	p.P1060L	DGEKSRTVSSEKPSGLKATSAEKDS	DGEKSRTVSSEKLSGLKATSAEKDS	7.0	1.0	unscreened	-	3713_2:97873563-97873563 C>T_DGEKSRTVSSEKLSGLKATSAEKDS
6:2679569-2679569 C>T	0.0	3713	MELANOMA	-	-	-	-	MYLK4	NM_001012418,p.D278N|ENST00000268446,p.D278N|ENST00000274643,p.D278N|uc003mty.4,p.D278N	protein_coding	uc003mty.4	nonsynonymous SNV	exon9	c.G832A	p.D278N	TPEFLAPEVVNYDFVSFPTDMWSVG	TPEFLAPEVVNYNFVSFPTDMWSVG	2.0	1.0	unscreened	-	3713_6:2679569-2679569 C>T_TPEFLAPEVVNYNFVSFPTDMWSVG
6:38942267-38942267 A>G	0.0	3713	MELANOMA	-	-	-	-	DNAH8	NM_001206927,p.M4266V|ENST00000441566,p.M4013V|ENST00000359357,p.M4049V|uc021yzh.1,p.M4266V|ENST00000327475,p.M4254V|uc003ooe.2,p.M4049V|uc003oog.1,p.M498V	protein_coding	uc021yzh.1	nonsynonymous SNV	exon85	c.A12796G	p.M4266V	LLDISNLPMWKPMLYTVAFLHSTVQ	LLDISNLPMWKPVLYTVAFLHSTVQ	1.0	3.0	unscreened	-	3713_6:38942267-38942267 A>G_LLDISNLPMWKPVLYTVAFLHSTVQ
X:139866023-139866023 C>T	0.0	3713	MELANOMA	-	-	ID=COSM319393;OCCURENCE=1(lung)	-	CDR1	uc004fbg.1,p.G170E|ENST00000370532,p.G170E|NM_004065,p.G170E	protein_coding	uc004fbg.1	nonsynonymous SNV	exon1	c.G509A	p.G170E	KLSGRLGLLGRRGFSGRLGGYWKTW	KLSGRLGLLGRREFSGRLGGYWKTW	1.0	10.0	unscreened	-	3713_X:139866023-139866023 C>T_KLSGRLGLLGRREFSGRLGGYWKTW
19:14752365-14752365 G>A	0.0	3713	MELANOMA	-	-	-	-	EMR3	NM_001289159,p.L246F|NM_001289158,p.L320F|ENST00000443157,p.L246F|uc010dzp.3,p.L320F|ENST00000253673,p.L372F|ENST00000344373,p.L320F|NM_032571,p.L372F|uc010xnv.2,p.L246F|ENST00000599900,p.L157F|uc002mzi.4,p.L372F	protein_coding	uc010xnv.2	nonsynonymous SNV	exon7	c.C736T	p.L246F	TYVGLSVSLLCLLLAALTFLLCKAI	TYVGLSVSLLCLFLAALTFLLCKAI	2.0	4.0	unscreened	-	3713_19:14752365-14752365 G>A_TYVGLSVSLLCLFLAALTFLLCKAI
12:7586120-7586120 G>A	0.0	3713	MELANOMA	-	-	-	-	CD163L1	NM_001297650,p.R99C|ENST00000416109,p.R99C|ENST00000396630,p.R99C|uc010sge.2,p.R99C|ENST00000313599,p.R99C|NM_174941,p.R99C|uc001qsy.3,p.R99C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sge.2	nonsynonymous SNV	exon3	c.C295T	p.R99C	KQLGCPFSFAMFRFGQAVTRHGKIW	KQLGCPFSFAMFCFGQAVTRHGKIW	1.0	6.0	unscreened	-	3713_12:7586120-7586120 G>A_KQLGCPFSFAMFCFGQAVTRHGKIW
16:67694198-67694198 G>A	1.0	3713	MELANOMA	-	-	ID=COSM135719;OCCURENCE=1(skin)	-	ACD	NM_022914,p.L62F|NM_001082486,p.L62F|uc002etr.4,p.L62F|NM_001082487,p.L62F|ENST00000393919,p.L62F|uc010vjt.1,p.L52F|uc002etq.4,p.L62F|ENST00000219251,p.L62F|uc002etp.4,p.L62F	protein_coding	uc010vjt.1	nonsynonymous SNV	exon1	c.C154T	p.L52F	LLLRPRPAKELPLPRKGGAWAPAGN	LLLRPRPAKELPFPRKGGAWAPAGN	2.0	3.0	unscreened	-	3713_16:67694198-67694198 G>A_LLLRPRPAKELPFPRKGGAWAPAGN
1:216144016-216144016 G>A	0.0	3713	MELANOMA	-	-	-	-	USH2A	ENST00000307340,p.S2303F|ENST00000366943,p.S2303F|NM_206933,p.S2303F|uc001hku.1,p.S2303F	retained_intron, protein_coding	uc001hku.1	nonsynonymous SNV	exon36	c.C6908T	p.S2303F	YRAYGFAPWSLHSFRVQACTAKGCA	YRAYGFAPWSLHFFRVQACTAKGCA	1.0	8.0	unscreened	-	3713_1:216144016-216144016 G>A_YRAYGFAPWSLHFFRVQACTAKGCA
17:40353760-40353760 G>A	1.0	3713	MELANOMA	-	-	-	1	STAT5B	ENST00000293328,p.S787L|NM_012448,p.S787L|uc002hzh.3,p.S787L	retained_intron, protein_coding	uc002hzh.3	nonsynonymous SNV	exon19	c.C2360T	p.S787L	RPMDSQWIPHAQS	RPMDSQWIPHAQL	8.0	1.0	-	-	3713_17:40353760-40353760 G>A_RPMDSQWIPHAQL
17:42981709-42981709 C>T	0.0	3713	MELANOMA	-	-	-	-	CCDC103	ENST00000412523,p.T171I|uc002ihp.1,p.T171I|ENST00000331733,p.T171I	protein_coding	uc002ihp.1	nonsynonymous SNV	exon1	c.C512T	p.T171I	ADEYYGHLHVFTTFWEWTPCDRCGV	ADEYYGHLHVFTIFWEWTPCDRCGV	2.0	2.0	unscreened	-	3713_17:42981709-42981709 C>T_ADEYYGHLHVFTIFWEWTPCDRCGV
2:73519171-73519171 C>A	0.0	3713	MELANOMA	-	-	-	-	EGR4	ENST00000436467,p.G292V|uc010yrk.1,p.G394V|NM_001965,p.G395V|ENST00000545030,p.G395V|uc010yrj.2,p.G395V	protein_coding	uc010yrk.1	nonsynonymous SNV	exon2	c.G1181T	p.G394V	AEGLPGLLTPPSGEGGSSGDGGEFL	AEGLPGLLTPPSVEGGSSGDGGEFL	1.0	8.0	unscreened	-	3713_2:73519171-73519171 C>A_AEGLPGLLTPPSVEGGSSGDGGEFL
12:56827705-56827705 C>T	1.0	3713	MELANOMA	-	-	-	-	TIMELESS	uc001slf.2,p.V35M|ENST00000229201,p.V35M|ENST00000553532,p.V35M|uc001slg.2,p.V35M|NM_003920,p.V35M|ENST00000554616,p.V35M	retained_intron, protein_coding	uc001slg.2	nonsynonymous SNV	exon3	c.G103A	p.V35M	DTYHKEPDCLESVKDLIRYLRHEDE	DTYHKEPDCLESMKDLIRYLRHEDE	3.0	7.0	-	-	3713_12:56827705-56827705 C>T_DTYHKEPDCLESMKDLIRYLRHEDE
3:151150566-151150566 C>T	1.0	3713	MELANOMA	-	-	-	-	MED12L	uc011bnz.2,p.P1802S|ENST00000474524,p.P2138S|ENST00000273432,p.P1802S|uc003eyp.3,p.P2138S|NM_053002,p.P2138S	protein_coding, processed_transcript	uc011bnz.2	nonsynonymous SNV	exon37	c.C5404T	p.P1802S	QLSSNQPQQGVTPYGHPSHF	QLSSNQPQQGVTSYGHPSHF	1.0	10.0	unscreened	-	3713_3:151150566-151150566 C>T_QLSSNQPQQGVTSYGHPSHF
12:10278033-10278033 G>A	0.0	3713	MELANOMA	-	-	-	-	CLEC7A	uc001qxi.2,p.P119S|NM_197948,p.P119S|ENST00000304084,p.P119S|NM_197947,p.P119S|uc001qxg.2,p.P119S|ENST00000533022,p.P119S|ENST00000529761,p.P119S|ENST00000531192,p.P119S	retained_intron, protein_coding, nonsense_mediated_decay	uc001qxi.2	nonsynonymous SNV	exon4	c.C355T	p.P119S	TKAVKTTGVLSSPCPPNWIIYEKSC	TKAVKTTGVLSSSCPPNWIIYEKSC	8.0	7.0	unscreened	-	3713_12:10278033-10278033 G>A_TKAVKTTGVLSSSCPPNWIIYEKSC
12:10278033-10278033 G>A	0.0	3713	MELANOMA	-	-	-	-	CLEC7A	ENST00000396484,p.P40S|uc001qxj.2,p.P40S|NM_197950,p.P40S	retained_intron, protein_coding, nonsense_mediated_decay	uc001qxj.2	nonsynonymous SNV	exon2	c.C118T	p.P40S	IAVVSEKGVLSSPCPPNWIIYEKSC	IAVVSEKGVLSSSCPPNWIIYEKSC	8.0	7.0	unscreened	-	3713_12:10278033-10278033 G>A_IAVVSEKGVLSSSCPPNWIIYEKSC
12:10278033-10278033 G>A	0.0	3713	MELANOMA	-	-	-	-	CLEC7A	ENST00000298523,p.P73S|ENST00000353231,p.P73S|uc001qxh.2,p.P73S|NM_022570,p.P73S|NM_197949,p.P73S|uc021quz.1,p.P73S|uc021qva.1,p.P73S|uc001qxf.2,p.P73S	retained_intron, protein_coding, nonsense_mediated_decay	uc021qva.1	nonsynonymous SNV	exon3	c.C217T	p.P73S	AVVLGTMGVLSSPCPPNWIIYEKSC	AVVLGTMGVLSSSCPPNWIIYEKSC	8.0	7.0	unscreened	-	3713_12:10278033-10278033 G>A_AVVLGTMGVLSSSCPPNWIIYEKSC
7:21659622-21659622 G>A	1.0	3713	MELANOMA	-	-	-	-	DNAH11	ENST00000409508,p.E1476K|uc031swp.1,p.E1476K|NM_001277115,p.E1476K|ENST00000328843,p.E1481K	retained_intron, protein_coding, processed_transcript	uc031swp.1	nonsynonymous SNV	exon25	c.G4426A	p.E1476K	ISQTWATMKFSYEVHYRTGIPLLKS	ISQTWATMKFSYKVHYRTGIPLLKS	1.0	5.0	unscreened	-	3713_7:21659622-21659622 G>A_ISQTWATMKFSYKVHYRTGIPLLKS
X:125298796-125298796 G>A	0.0	3713	MELANOMA	-	-	-	2	DCAF12L2	uc004euk.2,p.S371F|ENST00000538699,p.S371F|NM_001013628,p.S371F|ENST00000360028,p.S371F	protein_coding	uc004euk.2	nonsynonymous SNV	exon1	c.C1112T	p.S371F	YQHIITVGTGHGSLLFYDIRAQKFL	YQHIITVGTGHGFLLFYDIRAQKFL	1.0	10.0	unscreened	-	3713_X:125298796-125298796 G>A_YQHIITVGTGHGFLLFYDIRAQKFL
11:44948282-44948282 C>T	0.0	3713	MELANOMA	-	-	-	-	TSPAN18	NM_130783,p.L225F|ENST00000340160,p.L225F|uc001mye.4,p.L225F|ENST00000520358,p.L225F	retained_intron, protein_coding	uc001mye.4	nonsynonymous SNV	exon8	c.C673T	p.L225F	NTFETYVYLAGALAIGVLAIELFAM	NTFETYVYLAGAFAIGVLAIELFAM	4.0	2.0	unscreened	-	3713_11:44948282-44948282 C>T_NTFETYVYLAGAFAIGVLAIELFAM
6:138491835-138491835 C>T	1.0	3713	MELANOMA	-	-	-	-	KIAA1244	NM_020340,p.P41L|uc003qhu.3,p.P41L|ENST00000251691,p.P41L	protein_coding	uc003qhu.3	nonsynonymous SNV	exon2	c.C122T	p.P41L	ETLGGLDTIVKIPPHVLREKCLLPL	ETLGGLDTIVKILPHVLREKCLLPL	1.0	7.0	unscreened	-	3713_6:138491835-138491835 C>T_ETLGGLDTIVKILPHVLREKCLLPL
3:105258914-105258914 C>T	1.0	3713	MELANOMA	-	-	-	-	ALCAM	uc003dvy.3,p.P276S|NM_001243280,p.P276S|ENST00000472644,p.P276S|NM_001243281,p.P276S|ENST00000306107,p.P276S|NM_001627,p.P276S|ENST00000486979,p.P225S|uc003dvw.2,p.P276S|uc011bhh.1,p.P225S|uc003dvx.3,p.P276S	retained_intron, protein_coding, processed_transcript	uc011bhh.1	nonsynonymous SNV	exon8	c.C673T	p.P225S	DNITLKCLGNGNPPPEEFLFYLPGQ	DNITLKCLGNGNSPPEEFLFYLPGQ	6.0	9.0	-	-	3713_3:105258914-105258914 C>T_DNITLKCLGNGNSPPEEFLFYLPGQ
9:84607705-84607705 G>A	0.0	3713	MELANOMA	-	-	-	-	SPATA31D1	ENST00000344803,p.G774R|uc004amn.3,p.G774R|NM_001001670,p.G774R	protein_coding	uc004amn.3	nonsynonymous SNV	exon4	c.G2320A	p.G774R	NMLSMENVGNYQGYSQETVPKDHLL	NMLSMENVGNYQRYSQETVPKDHLL	1.0	10.0	unscreened	-	3713_9:84607705-84607705 G>A_NMLSMENVGNYQRYSQETVPKDHLL
14:26917877-26917877 G>A	0.0	3713	MELANOMA	-	-	-	-	NOVA1	uc001wpz.3,p.P247L|NM_002515,p.P271L|ENST00000449198,p.P230L|uc001wqa.3,p.P149L|uc001wpy.3,p.P271L|ENST00000539517,p.P271L|ENST00000267422,p.P149L|NM_006489,p.P247L|ENST00000465357,p.P247L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wqa.3	nonsynonymous SNV	exon6	c.C446T	p.P149L	TGPVANSNPTGSPYANTAEVLPTAA	TGPVANSNPTGSLYANTAEVLPTAA	1.0	1.0	unscreened	-	3713_14:26917877-26917877 G>A_TGPVANSNPTGSLYANTAEVLPTAA
17:56232857-56232857 C>T	0.0	3713	MELANOMA	-	-	-	-	OR4D1	NM_012374,p.L115F|uc010wno.2,p.L115F|ENST00000268912,p.L115F	protein_coding	uc010wno.2	nonsynonymous SNV	exon1	c.C343T	p.L115F	FFHLLGGGTVFFLSVMAYDRYIAIS	FFHLLGGGTVFFFSVMAYDRYIAIS	1.0	6.0	unscreened	-	3713_17:56232857-56232857 C>T_FFHLLGGGTVFFFSVMAYDRYIAIS
8:110445383-110445383 C>T	0.0	3713	MELANOMA	-	-	-	-	PKHD1L1	NM_177531,p.S1093F|uc003yne.3,p.S1093F|ENST00000378402,p.S1093F	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon28	c.C3278T	p.S1093F	EGTILTIVGSGFSPSSAVTVSVGPV	EGTILTIVGSGFFPSSAVTVSVGPV	1.0	3.0	unscreened	-	3713_8:110445383-110445383 C>T_EGTILTIVGSGFFPSSAVTVSVGPV
12:69127366-69127366 G>A	1.0	3713	MELANOMA	-	-	-	-	NUP107	ENST00000229179,p.E746K|uc001suf.3,p.E746K|uc001sug.3,p.E505K|NM_020401,p.E746K|uc010stj.2,p.E717K|ENST00000378905,p.E507K|ENST00000539906,p.E717K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010stj.2	nonsynonymous SNV	exon24	c.G2149A	p.E717K	SPLPAEDDNAIREHLCIRAYLEAHE	SPLPAEDDNAIRKHLCIRAYLEAHE	7.0	4.0	-	-	3713_12:69127366-69127366 G>A_SPLPAEDDNAIRKHLCIRAYLEAHE
5:36066833-36066833 G>A	0.0	3713	MELANOMA	-	-	-	-	UGT3A2	NM_001168316,p.S20L|uc011cos.2,p.S20L|ENST00000513300,p.S20L	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cos.2	nonsynonymous SNV	exon1	c.C59T	p.S20L	LLVGFLLPGVLLSEAAKILTISTVD	LLVGFLLPGVLLLEAAKILTISTVD	1.0	8.0	unscreened	-	3713_5:36066833-36066833 G>A_LLVGFLLPGVLLLEAAKILTISTVD
12:63989746-63989746 C>A	0.0	3713	MELANOMA	-	-	-	-	DPY19L2	NM_173812,p.K511N|uc001srp.1,p.K511N|ENST00000324472,p.K511N	retained_intron, protein_coding, nonsense_mediated_decay	uc001srp.1	nonsynonymous SNV	exon15	c.G1533T	p.K511N	PVVMVITCFIFKKTVRDISYVLATN	PVVMVITCFIFKNTVRDISYVLATN	7.0	3.0	unscreened	-	3713_12:63989746-63989746 C>A_PVVMVITCFIFKNTVRDISYVLATN
20:5283327-5283327 A>T	0.0	3713	MELANOMA	-	-	-	-	PROKR2	ENST00000546004,p.F172I|uc010zqy.2,p.F172I|uc010zqw.2,p.F172I|ENST00000217270,p.F172I|NM_144773,p.F172I|uc010zqx.2,p.F172I	protein_coding	uc010zqy.2	nonsynonymous SNV	exon3	c.T514A	p.F172I	PLKPRMNYQTASFLIALVWMVSILI	PLKPRMNYQTASILIALVWMVSILI	1.0	8.0	unscreened	-	3713_20:5283327-5283327 A>T_PLKPRMNYQTASILIALVWMVSILI
11:4790831-4790831 A>G	0.0	3713	MELANOMA	-	-	-	-	OR51F1	ENST00000343430,p.L106P|ENST00000380383,p.L113P|NM_001004752,p.L106P|uc010qyl.2,p.L106P	protein_coding	uc010qyl.2	nonsynonymous SNV	exon1	c.T317C	p.L106P	ISLYSCIVQMFFLHGFTFMESGVLV	ISLYSCIVQMFFPHGFTFMESGVLV	1.0	8.0	unscreened	-	3713_11:4790831-4790831 A>G_ISLYSCIVQMFFPHGFTFMESGVLV
19:45532197-45532197 G>A	1.0	3713	MELANOMA	-	-	-	-	RELB	ENST00000505236,p.G310E|ENST00000221452,p.G313E|ENST00000540120,p.G313E|uc021uvq.1,p.G313E	retained_intron, protein_coding, nonsense_mediated_decay	uc021uvq.1	nonsynonymous SNV	exon8	c.G938A	p.G313E	SELRICRINKESGPCTGGEELYLLC	SELRICRINKESEPCTGGEELYLLC	3.0	10.0	-	-	3713_19:45532197-45532197 G>A_SELRICRINKESEPCTGGEELYLLC
11:64518049-64518049 G>A	0.0	3713	MELANOMA	-	-	-	-	PYGM	NM_005609,p.P659L|NM_001164716,p.P571L|ENST00000377432,p.P571L|ENST00000164139,p.P659L|uc001oay.4,p.P571L|uc001oax.4,p.P659L	retained_intron, protein_coding, processed_transcript	uc001oay.4	nonsynonymous SNV	exon15	c.C1712T	p.P571L	ENYRVSLAEKVIPAADLSEQISTAG	ENYRVSLAEKVILAADLSEQISTAG	1.0	2.0	unscreened	-	3713_11:64518049-64518049 G>A_ENYRVSLAEKVILAADLSEQISTAG
3:121976022-121976022 G>A	0.0	3713	MELANOMA	-	-	-	-	CASR	uc003eew.4,p.G94R|ENST00000296154,p.G94R|uc003eev.4,p.G94R|NM_001178065,p.G94R|NM_000388,p.G94R|ENST00000490131,p.G94R|ENST00000498619,p.G94R	retained_intron, protein_coding	uc003eew.4	nonsynonymous SNV	exon3	c.G280A	p.G94R	NSSPALLPNLTLGYRIFDTCNTVSK	NSSPALLPNLTLRYRIFDTCNTVSK	1.0	9.0	unscreened	-	3713_3:121976022-121976022 G>A_NSSPALLPNLTLRYRIFDTCNTVSK
7:94937438-94937438 C>T	0.0	3713	MELANOMA	-	-	-	-	PON1	ENST00000542556,p.E195K|ENST00000222381,p.E195K|uc011kih.2,p.E195K|uc003uns.3,p.E195K|NM_000446,p.E195K	retained_intron, protein_coding, nonsense_mediated_decay	uc011kih.2	nonsynonymous SNV	exon6	c.G583A	p.E195K	DHYFLDPYLQSWEMYLGLAWSYVVY	DHYFLDPYLQSWKMYLGLAWSYVVY	1.0	8.0	unscreened	-	3713_7:94937438-94937438 C>T_DHYFLDPYLQSWKMYLGLAWSYVVY
6:47846814-47846814 C>A	0.0	3713	MELANOMA	-	-	-	-	PTCHD4	ENST00000339488,p.R589L|uc011dwn.2,p.R336L|NM_001013732,p.R589L|uc011dwm.2,p.R589L	protein_coding	uc011dwn.2	nonsynonymous SNV	exon3	c.G1007T	p.R336L	SSFLKKPEFQHFRNDIIFSKAGDES	SSFLKKPEFQHFLNDIIFSKAGDES	1.0	1.0	unscreened	-	3713_6:47846814-47846814 C>A_SSFLKKPEFQHFLNDIIFSKAGDES
1:157497655-157497655 C>T	0.0	3713	MELANOMA	-	-	-	-	FCRL5	uc010phv.1,p.R571K|uc001fqu.3,p.R571K|ENST00000356953,p.R571K|NM_031281,p.R571K|uc009wsm.3,p.R571K|ENST00000368190,p.R571K|ENST00000361835,p.R571K|ENST00000368191,p.R486K|uc010phw.1,p.R486K|NM_001195388,p.R571K	protein_coding, processed_transcript	uc010phw.1	nonsynonymous SNV	exon8	c.G1457A	p.R486K	VTVPVSRPILTLRVPRAQAVVGDLL	VTVPVSRPILTLKVPRAQAVVGDLL	8.0	3.0	unscreened	-	3713_1:157497655-157497655 C>T_VTVPVSRPILTLKVPRAQAVVGDLL
5:36066833-36066833 G>A	0.0	3713	MELANOMA	-	-	-	-	UGT3A2	ENST00000282507,p.S20L|uc003jjz.2,p.S20L|ENST00000515131,p.S20L|NM_174914,p.S20L|ENST00000504685,p.S20L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003jjz.2	nonsynonymous SNV	exon1	c.C59T	p.S20L	LLVGFLLPGVLLSEAAKILTISTVG	LLVGFLLPGVLLLEAAKILTISTVG	1.0	8.0	unscreened	-	3713_5:36066833-36066833 G>A_LLVGFLLPGVLLLEAAKILTISTVG
1:247875949-247875949 G>A	0.0	3713	MELANOMA	-	-	-	-	OR6F1	NM_001005286,p.L37F|uc001idj.1,p.L37F|ENST00000302084,p.L37F	protein_coding	uc001idj.1	nonsynonymous SNV	exon1	c.C109T	p.L37F	LSLFMLFLVMYILTVSGNVAILMLV	LSLFMLFLVMYIFTVSGNVAILMLV	1.0	4.0	unscreened	-	3713_1:247875949-247875949 G>A_LSLFMLFLVMYIFTVSGNVAILMLV
15:62270836-62270836 A>G	1.0	3713	MELANOMA	-	-	-	-	VPS13C	ENST00000261517,p.F760S|uc002ahb.2,p.F760S|NM_001018088,p.F760S|uc002aha.3,p.F717S|ENST00000395896,p.F760S|NM_020821,p.F760S|uc002agz.3,p.F760S|ENST00000249837,p.F717S|NM_018080,p.F717S|uc002ahc.2,p.F717S|ENST00000395898,p.F717S|NM_017684,p.F717S	retained_intron, protein_coding, processed_transcript	uc002ahc.2	nonsynonymous SNV	exon21	c.T2150C	p.F717S	KFDVEIKNVQLLFARAEETWKKCRF	KFDVEIKNVQLLSARAEETWKKCRF	9.0	2.0	-	-	3713_15:62270836-62270836 A>G_KFDVEIKNVQLLSARAEETWKKCRF
5:150029837-150029837 C>T	0.0	3713	MELANOMA	-	-	-	-	SYNPO	NM_007286,p.S667F|ENST00000307662,p.S667F|uc003lsp.3,p.S667F	protein_coding, processed_transcript	uc003lsp.3	nonsynonymous SNV	exon2	c.C2000T	p.S667F	SPRAKQAPRPSFSTRNAGIEAQDRR	SPRAKQAPRPSFFTRNAGIEAQDRR	7.0	8.0	unscreened	-	3713_5:150029837-150029837 C>T_SPRAKQAPRPSFFTRNAGIEAQDRR
6:30457628-30457628 C>T	1.0	3713	MELANOMA	-	-	-	-	HLA-E	ENST00000376630,p.P64S|NM_005516,p.P64S|uc003nqg.3,p.P64S|uc011dmh.2,p.P105S	retained_intron, protein_coding	uc011dmh.2	nonsynonymous SNV	exon1	c.C313T	p.P105S	TQFVRFDNDAASPRMVPRAPWMEQE	TQFVRFDNDAASSRMVPRAPWMEQE	10.0	9.0	unscreened	-	3713_6:30457628-30457628 C>T_TQFVRFDNDAASSRMVPRAPWMEQE
1:65124466-65124466 A>G	1.0	3713	MELANOMA	-	-	-	-	CACHD1	NM_001293274,p.T325A|ENST00000290039,p.T570A|uc001dbq.1,p.T325A|NM_020925,p.T570A|uc001dbo.1,p.T570A|uc001dbp.1,p.T325A|ENST00000371073,p.T621A	retained_intron, protein_coding, processed_transcript	uc001dbq.1	nonsynonymous SNV	exon13	c.A973G	p.T325A	PEIPVKQLKNLNTVPSSKLLYHRLD	PEIPVKQLKNLNAVPSSKLLYHRLD	3.0	10.0	unscreened	-	3713_1:65124466-65124466 A>G_PEIPVKQLKNLNAVPSSKLLYHRLD
12:50589640-50589640 G>A	1.0	3713	MELANOMA	-	-	-	-	LIMA1	ENST00000552720,p.R335C|ENST00000341247,p.R335C|NM_001243775,p.R33C|ENST00000552823,p.R175C|uc001rwj.4,p.R335C|ENST00000552491,p.R33C|uc001rwg.4,p.R33C|ENST00000552909,p.R175C|uc001rwh.4,p.R175C|NM_016357,p.R335C|ENST00000547825,p.R33C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rwj.4	nonsynonymous SNV	exon8	c.C1003T	p.R335C	EKISANENSLAVRSTPAEDDSRDSQ	EKISANENSLAVCSTPAEDDSRDSQ	10.0	10.0	-	-	3713_12:50589640-50589640 G>A_EKISANENSLAVCSTPAEDDSRDSQ
7:141843656-141843656 C>T	0.0	3713	MELANOMA	-	-	-	-	LOC93432	uc003vwz.3,p.H469Y|ENST00000550469,p.H469Y	retained_intron, protein_coding	uc003vwz.3	nonsynonymous SNV	exon13	c.C1405T	p.H469Y	EWWTDQVAKFHDHLEFDGVWIVSYY	EWWTDQVAKFHDYLEFDGVWIVSYY	1.0	5.0	unscreened	-	3713_7:141843656-141843656 C>T_EWWTDQVAKFHDYLEFDGVWIVSYY
3:10861483-10861483 A>G	0.0	3713	MELANOMA	-	-	-	-	SLC6A11	NM_014229,p.N160D|ENST00000454147,p.N160D|uc003bvy.1,p.N160D|ENST00000254488,p.N160D|uc003bvz.3,p.N160D	retained_intron, protein_coding	uc003bvz.3	nonsynonymous SNV	exon3	c.A478G	p.N160D	IIILAWAIFYLSNCFTTELPWATCG	IIILAWAIFYLSDCFTTELPWATCG	1.0	9.0	unscreened	-	3713_3:10861483-10861483 A>G_IIILAWAIFYLSDCFTTELPWATCG
19:58453016-58453016 G>A	1.0	3713	MELANOMA	-	-	-	-	ZNF256	uc002qqu.3,p.S387F|uc010euj.3,p.S234F|NM_005773,p.S387F|ENST00000282308,p.S387F	protein_coding	uc010euj.3	nonsynonymous SNV	exon2	c.C701T	p.S234F	GTRPYMCSECGKSFSQSCHLIKHRR	GTRPYMCSECGKFFSQSCHLIKHRR	4.0	9.0	unscreened	-	3713_19:58453016-58453016 G>A_GTRPYMCSECGKFFSQSCHLIKHRR
15:72698958-72698958 C>T	0.0	3713	MELANOMA	-	-	-	-	TMEM202	uc002auq.3,p.S118F|NM_001080462,p.S118F|ENST00000341689,p.S118F	protein_coding, nonsense_mediated_decay	uc002auq.3	nonsynonymous SNV	exon3	c.C353T	p.S118F	SHTPKPPYYLQYSRAFFLISVFTIL	SHTPKPPYYLQYFRAFFLISVFTIL	1.0	4.0	unscreened	-	3713_15:72698958-72698958 C>T_SHTPKPPYYLQYFRAFFLISVFTIL
10:24783503-24783503 C>T	1.0	3713	MELANOMA	-	-	-	-	KIAA1217	NM_019590,p.P585L|NM_001098500,p.P505L|ENST00000376454,p.P585L|uc001iru.4,p.P585L|ENST00000376462,p.P505L|uc001irs.3,p.P505L	retained_intron, protein_coding, processed_transcript	uc001iru.4	nonsynonymous SNV	exon7	c.C1754T	p.P585L	LTGLVQSALFKGPITSYSKDASSEK	LTGLVQSALFKGLITSYSKDASSEK	3.0	4.0	unscreened	-	3713_10:24783503-24783503 C>T_LTGLVQSALFKGLITSYSKDASSEK
19:50361828-50361828 G>-	1.0	3713	MELANOMA	-	-	-	-	PTOV1	ENST00000601675,p.R320fs|ENST00000601093,p.R51fs|ENST00000391842,p.R320fs|NM_017432,p.R320fs|uc002pqb.4,p.R288fs|ENST00000221557,p.R288fs|uc002pqf.1,p.R320fs|ENST00000599732,p.R320fs|ENST00000600603,p.R288fs|ENST00000601638,p.R288fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002pqf.1	frameshift deletion	exon10	c.959delG	p.R320fs	PQQLLTTLVPLFRNSRLVQFHFTKD	PQQLLTTLVPLFRTRAWSSSTSPRTWRH	8.0	10.0	unscreened	-	3713_19:50361828-50361828 G>-_PQQLLTTLVPLFRTRAWSSSTSPRTWRH
5:150029837-150029837 C>T	0.0	3713	MELANOMA	-	-	-	-	SYNPO	ENST00000394243,p.S911F|uc003lsn.3,p.S911F|NM_001166209,p.S911F|uc003lso.4,p.S667F|uc021yfv.1,p.S667F|NM_001166208,p.S911F|ENST00000522122,p.S911F|uc021yfu.1,p.S911F|NM_001109974,p.S667F|ENST00000519664,p.S667F	protein_coding, processed_transcript	uc021yfv.1	nonsynonymous SNV	exon1	c.C2000T	p.S667F	SPRAKQAPRPSFSTRNAGIEAQVWK	SPRAKQAPRPSFFTRNAGIEAQVWK	7.0	8.0	unscreened	-	3713_5:150029837-150029837 C>T_SPRAKQAPRPSFFTRNAGIEAQVWK
11:58715395-58715395 C>T	0.0	3713	MELANOMA	-	-	-	-	GLYATL1	ENST00000317391,p.S48F|uc001nni.2,p.S48F|NM_001220494,p.S48F|NM_080661,p.S79F|uc001nnh.2,p.S79F|NM_001220496,p.S48F|ENST00000526351,p.S71F|uc001nnj.2,p.S48F|ENST00000300079,p.S79F|ENST00000525608,p.S48F|ENST00000532726,p.S48F|uc001nnf.3,p.S48F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001nnj.2	nonsynonymous SNV	exon3	c.C143T	p.S48F	HGNPFNMEVLVDSWPEYQMVIIRPQ	HGNPFNMEVLVDFWPEYQMVIIRPQ	1.0	8.0	unscreened	-	3713_11:58715395-58715395 C>T_HGNPFNMEVLVDFWPEYQMVIIRPQ
9:118997664-118997664 C>T	1.0	3713	MELANOMA	-	-	-	-	PAPPA	ENST00000328252,p.S827F|NM_002581,p.S827F|uc011lxp.1,p.S522F|uc004bjn.3,p.S827F	protein_coding, processed_transcript	uc011lxp.1	nonsynonymous SNV	exon5	c.C1565T	p.S522F	DIKLLAVSGKNISLGPQNVFCDVPL	DIKLLAVSGKNIFLGPQNVFCDVPL	1.0	3.0	-	-	3713_9:118997664-118997664 C>T_DIKLLAVSGKNIFLGPQNVFCDVPL
12:50589640-50589640 G>A	1.0	3713	MELANOMA	-	-	-	-	LIMA1	ENST00000394943,p.R335C|uc001rwk.4,p.R335C|NM_001113546,p.R335C|uc001rwi.4,p.R175C|NM_001113547,p.R175C|ENST00000552783,p.R175C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rwk.4	nonsynonymous SNV	exon8	c.C1003T	p.R335C	EKISANENSLAVRSTPAEDDSPGDS	EKISANENSLAVCSTPAEDDSPGDS	10.0	10.0	unscreened	-	3713_12:50589640-50589640 G>A_EKISANENSLAVCSTPAEDDSPGDS
10:135087270-135087270 G>A	0.0	3713	MELANOMA	-	-	-	-	ADAM8	uc021qbe.1,p.L127F|ENST00000415217,p.L127F|NM_001164489,p.L127F|ENST00000486609,p.L192F|NM_001109,p.L127F|ENST00000445355,p.L127F|uc010qvb.1,p.L102F|uc009ybi.3,p.L127F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qbe.1	nonsynonymous SNV	exon5	c.C379T	p.L127F	PDSAASLSTCAGLRGFFQVGSDLHL	PDSAASLSTCAGFRGFFQVGSDLHL	6.0	1.0	unscreened	-	3713_10:135087270-135087270 G>A_PDSAASLSTCAGFRGFFQVGSDLHL
12:47629209-47629209 G>A	0.0	3713	MELANOMA	-	-	-	-	PCED1B	uc001rpn.3,p.M121I|uc001rpq.3,p.M121I|ENST00000549500,p.M121I|ENST00000432328,p.M121I|NM_001281429,p.M121I|ENST00000546455,p.M121I|ENST00000549630,p.M121I|NM_138371,p.M121I|uc021qxi.1,p.M121I	protein_coding	uc021qxi.1	nonsynonymous SNV	exon1	c.G363A	p.M121I	LQSGEHAPDLVIMNSCLWDISRYGP	LQSGEHAPDLVIINSCLWDISRYGP	8.0	6.0	unscreened	-	3713_12:47629209-47629209 G>A_LQSGEHAPDLVIINSCLWDISRYGP
7:131831396-131831396 G>A	0.0	3713	MELANOMA	-	-	-	-	PLXNA4	uc003vra.4,p.P1643L|ENST00000359827,p.P1643L|ENST00000321063,p.P1643L|NM_020911,p.P1643L	retained_intron, protein_coding	uc003vra.4	nonsynonymous SNV	exon28	c.C4928T	p.P1643L	PDSLRSRTPMITPDLESGVKMWHLV	PDSLRSRTPMITLDLESGVKMWHLV	1.0	10.0	unscreened	-	3713_7:131831396-131831396 G>A_PDSLRSRTPMITLDLESGVKMWHLV
16:83636101-83636101 G>A	1.0	3713	MELANOMA	-	-	-	-	CDH13	uc010vns.2,p.D382N|NM_001220488,p.D382N|uc010vnt.2,p.D81N|NM_001220490,p.D81N|uc010vnu.2,p.D296N|NM_001220489,p.D296N|uc002fgx.3,p.D335N|ENST00000268613,p.D382N|NM_001257,p.D335N|ENST00000428848,p.D296N|ENST00000566620,p.D335N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vnu.2	nonsynonymous SNV	exon7	c.G886A	p.D296N	ENPKYELIIEAQDMAGLDVGLTGTA	ENPKYELIIEAQNMAGLDVGLTGTA	3.0	7.0	-	-	3713_16:83636101-83636101 G>A_ENPKYELIIEAQNMAGLDVGLTGTA
3:36899505-36899505 C>T	0.0	3713	MELANOMA	-	-	-	-	TRANK1	NM_014831,p.D526N|uc003cgj.3,p.D526N|ENST00000429976,p.D526N	protein_coding, processed_transcript	uc003cgj.3	nonsynonymous SNV	exon12	c.G1576A	p.D526N	ADIGFSFLSHLLDLFWSNPTEFDYL	ADIGFSFLSHLLNLFWSNPTEFDYL	5.0	3.0	unscreened	-	3713_3:36899505-36899505 C>T_ADIGFSFLSHLLNLFWSNPTEFDYL
12:6753412-6753412 G>A	0.0	3713	MELANOMA	-	-	-	-	ACRBP	uc001qpu.1,p.P279S|ENST00000414226,p.P246S|ENST00000536350,p.P279S|NM_032489,p.P279S|ENST00000229243,p.P279S|uc010sfg.1,p.P246S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sfg.1	nonsynonymous SNV	exon5	c.C736T	p.P246S	SFAPRVREVESTPMIMENIQELIRS	SFAPRVREVESTSMIMENIQELIRS	3.0	10.0	unscreened	-	3713_12:6753412-6753412 G>A_SFAPRVREVESTSMIMENIQELIRS
14:65264550-65264550 C>T	0.0	3713	MELANOMA	-	-	-	-	SPTB	ENST00000542895,p.G360E|ENST00000389720,p.G360E|uc001xht.3,p.G360E|ENST00000556626,p.G360E|NM_001024858,p.G360E|NM_000347,p.G360E|uc001xhu.3,p.G360E|ENST00000389722,p.G360E|uc001xhs.3,p.G360E|uc001xhr.3,p.G360E|ENST00000389721,p.G360E	retained_intron, protein_coding, processed_transcript	uc001xhu.3	nonsynonymous SNV	exon10	c.G1079A	p.G360E	RTVEKPPKFQEKGNLEVLLFTIQSR	RTVEKPPKFQEKENLEVLLFTIQSR	1.0	3.0	unscreened	-	3713_14:65264550-65264550 C>T_RTVEKPPKFQEKENLEVLLFTIQSR
16:9923321-9923321 C>T	0.0	3713	MELANOMA	-	-	-	1	GRIN2A	ENST00000562109,p.E656K|ENST00000396575,p.E656K|uc010uyn.2,p.E499K|ENST00000535259,p.E499K|uc010uym.2,p.E656K|ENST00000396573,p.E656K|NM_000833,p.E656K|ENST00000404927,p.E656K|uc002czr.4,p.E656K|NM_001134407,p.E656K|ENST00000330684,p.E656K|NM_001134408,p.E656K|uc002czo.4,p.E656K	retained_intron, protein_coding, processed_transcript	uc010uyn.2	nonsynonymous SNV	exon8	c.G1495A	p.E499K	SYTANLAAFMIQEEFVDQVTGLSDK	SYTANLAAFMIQKEFVDQVTGLSDK	1.0	2.0	unscreened	-	3713_16:9923321-9923321 C>T_SYTANLAAFMIQKEFVDQVTGLSDK
1:248112774-248112774 T>G	0.0	3713	MELANOMA	-	-	-	-	OR2L8	ENST00000357191,p.F205L|NM_001001963,p.F205L|uc001idt.1,p.F205L	protein_coding	uc001idt.1	nonsynonymous SNV	exon1	c.T615G	p.F205L	VYEGTVFLSATIFLVFPFIGISCSY	VYEGTVFLSATILLVFPFIGISCSY	1.0	1.0	unscreened	-	3713_1:248112774-248112774 T>G_VYEGTVFLSATILLVFPFIGISCSY
1:12855650-12855650 G>A	0.0	3713	MELANOMA	-	-	-	-	PRAMEF1	uc001auj.2,p.M310I|ENST00000332296,p.M310I|ENST00000400814,p.M65I|NM_023013,p.M310I|NM_001294139,p.M65I	protein_coding	uc001auj.2	nonsynonymous SNV	exon4	c.G930A	p.M310I	LELTYGYLLEEDMKCLSQYPSLGYL	LELTYGYLLEEDIKCLSQYPSLGYL	1.0	2.0	unscreened	-	3713_1:12855650-12855650 G>A_LELTYGYLLEEDIKCLSQYPSLGYL
X:35988928-35988928 G>A	0.0	3713	MELANOMA	-	-	-	-	CXorf22	ENST00000493930,p.D620N|NM_152632,p.D620N|ENST00000297866,p.D620N|uc004ddj.3,p.D620N	protein_coding, nonsense_mediated_decay	uc004ddj.3	nonsynonymous SNV	exon11	c.G1858A	p.D620N	FTKVPRFNYVNHDFAYTTFEKQQKK	FTKVPRFNYVNHNFAYTTFEKQQKK	1.0	9.0	unscreened	-	3713_X:35988928-35988928 G>A_FTKVPRFNYVNHNFAYTTFEKQQKK
7:99972056-99972056 G>A	1.0	3713	MELANOMA	-	-	-	-	PILRA	ENST00000198536,p.A152T|uc003uuo.1,p.A152T|NM_013439,p.A152T	retained_intron, protein_coding, processed_transcript	uc003uuo.1	nonsynonymous SNV	exon2	c.G454A	p.A152T	QSIEGTKLSITQAVTTTTQRPSSMT	QSIEGTKLSITQTVTTTTQRPSSMT	7.0	8.0	unscreened	-	3713_7:99972056-99972056 G>A_QSIEGTKLSITQTVTTTTQRPSSMT
8:141460944-141460944 G>A	1.0	3713	MELANOMA	-	-	-	-	TRAPPC9	ENST00000389328,p.L275F|NM_001160372,p.L177F|uc003yvh.2,p.L275F|ENST00000389327,p.L177F|uc003yvj.2,p.L177F|uc003yvi.1,p.L177F|NM_031466,p.L275F|ENST00000438773,p.L177F	retained_intron, protein_coding, processed_transcript	uc003yvj.2	nonsynonymous SNV	exon2	c.C529T	p.L177F	DRATDKSGDKIPLLCVPFEKKDFVG	DRATDKSGDKIPFLCVPFEKKDFVG	3.0	10.0	-	-	3713_8:141460944-141460944 G>A_DRATDKSGDKIPFLCVPFEKKDFVG
7:20198989-20198989 G>A	0.0	3713	MELANOMA	-	-	-	-	MACC1	uc010kug.3,p.T332I|NM_182762,p.T332I|uc003sus.4,p.T332I|ENST00000589011,p.T332I|ENST00000400331,p.T332I|ENST00000332878,p.T332I	retained_intron, protein_coding, processed_transcript	uc010kug.3	nonsynonymous SNV	exon3	c.C995T	p.T332I	FKVLSNCYIYKDTIQVKLIDLSQVM	FKVLSNCYIYKDIIQVKLIDLSQVM	1.0	9.0	unscreened	-	3713_7:20198989-20198989 G>A_FKVLSNCYIYKDIIQVKLIDLSQVM
20:45633655-45633655 G>A	0.0	3713	MELANOMA	-	-	-	-	EYA2	uc002xsm.3,p.G77E|uc002xsq.3,p.G77E|ENST00000458636,p.G30E|NM_005244,p.G77E|NM_172110,p.G77E|ENST00000327619,p.G77E|ENST00000357410,p.G77E|uc010ghp.3,p.G77E|ENST00000317304,p.G77E|ENST00000497062,p.G77E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ghp.3	nonsynonymous SNV	exon4	c.G230A	p.G77E	AMAAYGQTQYSAGIQQATPYTAYPP	AMAAYGQTQYSAEIQQATPYTAYPP	1.0	3.0	unscreened	-	3713_20:45633655-45633655 G>A_AMAAYGQTQYSAEIQQATPYTAYPP
12:120510439-120510439 C>T	1.0	3713	MELANOMA	-	-	ID=COSM1510944,COSM3792249;OCCURENCE=1(lung),1(urinary_tract)	-	CCDC64	uc001txk.2,p.S405L|ENST00000397558,p.S405L|uc010szf.1,p.S54L|ENST00000257583,p.S54L|NM_207311,p.S405L|ENST00000548673,p.S75L|uc001txl.1,p.S405L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010szf.1	nonsynonymous SNV	exon2	c.C161T	p.S54L	STDSSMDESSETSSAKDVPAGSLRT	STDSSMDESSETLSAKDVPAGSLRT	4.0	7.0	unscreened	-	3713_12:120510439-120510439 C>T_STDSSMDESSETLSAKDVPAGSLRT
14:95081190-95081190 G>A	0.0	3713	MELANOMA	-	-	-	-	SERPINA3	ENST00000393078,p.G138R|uc001yds.3,p.G138R|uc001ydp.3,p.G138R|ENST00000556968,p.G138R|NM_001085,p.G138R|ENST00000467132,p.G138R|uc001ydo.4,p.G163R|ENST00000393080,p.G138R|uc010avg.3,p.G138R|ENST00000553947,p.G163R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010avg.3	nonsynonymous SNV	exon2	c.G412A	p.G138R	LNQSSDELQLSMGNAMFVKEQLSLL	LNQSSDELQLSMRNAMFVKEQLSLL	1.0	10.0	unscreened	-	3713_14:95081190-95081190 G>A_LNQSSDELQLSMRNAMFVKEQLSLL
22:23656786-23656786 C>G	0.0	3713	MELANOMA	-	-	ID=COSM3785508;OCCURENCE=1(pancreas)	1	BCR	NM_021574,p.A1160G|uc002zww.3,p.A1204G|uc002zwx.3,p.A1160G|ENST00000305877,p.A1204G|uc011aiy.2,p.A793G|NM_004327,p.A1204G|ENST00000359540,p.A1160G	retained_intron, protein_coding, processed_transcript	uc011aiy.2	nonsynonymous SNV	exon22	c.C2378G	p.A793G	KEAVNKMSLHNLATVFGPTLLRPSE	KEAVNKMSLHNLGTVFGPTLLRPSE	6.0	1.0	unscreened	-	3713_22:23656786-23656786 C>G_KEAVNKMSLHNLGTVFGPTLLRPSE
12:20876029-20876029 C>T	0.0	3713	MELANOMA	-	-	-	-	SLCO1C1	uc010sii.2,p.L343F|uc010sij.2,p.L294F|NM_001145945,p.L294F|uc001rei.3,p.L343F|ENST00000545604,p.L343F|uc009zip.3,p.L177F|ENST00000381552,p.L343F|ENST00000266509,p.L343F|ENST00000545102,p.L225F|NM_001145944,p.L225F|NM_001145946,p.L343F|uc010sik.2,p.L225F|ENST00000540354,p.L294F|NM_017435,p.L343F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sik.2	nonsynonymous SNV	exon7	c.C673T	p.L225F	ENAKIMEMARDFLPSLKNLFGNPVY	ENAKIMEMARDFFPSLKNLFGNPVY	1.0	6.0	unscreened	-	3713_12:20876029-20876029 C>T_ENAKIMEMARDFFPSLKNLFGNPVY
9:107267045-107267045 C>T	0.0	3713	MELANOMA	-	-	ID=COSM455080;OCCURENCE=1(breast)	-	OR13F1	uc011lvm.2,p.L168F|ENST00000334726,p.L168F|NM_001004485,p.L168F	protein_coding	uc011lvm.2	nonsynonymous SNV	exon1	c.C502T	p.L168F	AMVEMMSVLPLSLCGNSIINHFTCE	AMVEMMSVLPLSFCGNSIINHFTCE	1.0	8.0	unscreened	-	3713_9:107267045-107267045 C>T_AMVEMMSVLPLSFCGNSIINHFTCE
4:120517689-120517689 G>A	1.0	3713	MELANOMA	-	-	-	-	PDE5A	ENST00000264805,p.H232Y|uc003idf.3,p.H232Y|uc003idg.3,p.H222Y|ENST00000354960,p.H274Y|NM_033437,p.H222Y|NM_033430,p.H232Y|uc003idh.3,p.H274Y|ENST00000394439,p.H222Y|NM_001083,p.H274Y	retained_intron, protein_coding, processed_transcript	uc003idh.3	nonsynonymous SNV	exon3	c.C820T	p.H274Y	KTQSILCMPIKNHREEVVGVAQAIN	KTQSILCMPIKNYREEVVGVAQAIN	3.0	10.0	-	-	3713_4:120517689-120517689 G>A_KTQSILCMPIKNYREEVVGVAQAIN
9:123877420-123877420 A>G	1.0	3713	MELANOMA	-	-	-	1	CNTRL	NM_007018,p.Q466R|uc004bky.1,p.Q70R|ENST00000373855,p.Q466R|ENST00000238341,p.Q466R|uc004bkx.1,p.Q466R	protein_coding, processed_transcript	uc004bky.1	nonsynonymous SNV	exon3	c.A209G	p.Q70R	SELHDEIEKAEQQILRATEEFKQLE	SELHDEIEKAEQRILRATEEFKQLE	4.0	10.0	-	-	3713_9:123877420-123877420 A>G_SELHDEIEKAEQRILRATEEFKQLE
1:151108595-151108595 G>A	1.0	3713	MELANOMA	-	-	ID=COSM3788669,COSM3788670;OCCURENCE=1(urinary_tract)	-	SEMA6C	NM_030913,p.S384F|ENST00000368914,p.S384F|ENST00000341697,p.S384F|uc001ewv.3,p.S384F|uc001eww.3,p.S344F|uc001ewu.3,p.S384F|ENST00000368913,p.S384F|NM_001178062,p.S344F|ENST00000368912,p.S344F|NM_001178061,p.S384F	protein_coding, processed_transcript	uc001eww.3	nonsynonymous SNV	exon12	c.C1031T	p.S344F	SCAGVGGAALFSSSRDLPDDVLTFI	SCAGVGGAALFSFSRDLPDDVLTFI	3.0	3.0	unscreened	-	3713_1:151108595-151108595 G>A_SCAGVGGAALFSFSRDLPDDVLTFI
5:10290672-10290672 C>T	0.0	3713	MELANOMA	-	-	-	-	CMBL	NM_138809,p.G68E|uc003jes.3,p.G68E|ENST00000296658,p.G68E	retained_intron, protein_coding, processed_transcript	uc003jes.3	nonsynonymous SNV	exon2	c.G203A	p.G68E	LPNTRYIADMISGNGYTTIVPDFFV	LPNTRYIADMISENGYTTIVPDFFV	1.0	9.0	unscreened	-	3713_5:10290672-10290672 C>T_LPNTRYIADMISENGYTTIVPDFFV
8:37978454-37978454 C>T	1.0	3713	MELANOMA	-	-	-	-	ASH2L	uc003xkt.5,p.P318S|ENST00000428278,p.P224S|ENST00000250635,p.P224S|NM_001105214,p.P224S|NM_001282272,p.P179S|uc003xku.5,p.P224S|ENST00000521652,p.P224S|ENST00000343823,p.P318S|uc010lwa.4,p.P224S|uc011lbk.3,p.P179S|ENST00000545394,p.P179S|NM_004674,p.P318S|NM_001261832,p.P224S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lbk.3	nonsynonymous SNV	exon9	c.C535T	p.P179S	GTTGTTKKARSDPLFSAQRLPPHGY	GTTGTTKKARSDSLFSAQRLPPHGY	7.0	10.0	-	-	3713_8:37978454-37978454 C>T_GTTGTTKKARSDSLFSAQRLPPHGY
7:123269256-123269256 G>A	0.0	3713	MELANOMA	-	-	-	-	ASB15	NM_080928,p.G403E|ENST00000451558,p.G403E|ENST00000434204,p.G403E|ENST00000275699,p.G403E|ENST00000451215,p.G403E|ENST00000540573,p.G403E|NM_001290258,p.G403E|uc003vku.1,p.G403E|uc003vkw.1,p.G403E	protein_coding	uc003vkw.1	nonsynonymous SNV	exon8	c.G1208A	p.G403E	NNYEIVRLLLSHGANVNCYFMHVND	NNYEIVRLLLSHEANVNCYFMHVND	1.0	7.0	unscreened	-	3713_7:123269256-123269256 G>A_NNYEIVRLLLSHEANVNCYFMHVND
X:74644584-74644584 G>A	0.0	3713	MELANOMA	-	-	-	-	ZDHHC15	ENST00000373361,p.S173F	protein_coding, processed_transcript	ENST00000373361	nonsynonymous SNV	exon7	c.C518T	p.S173F	WGNYPVFALSSMSFFFSLWPACFLS	WGNYPVFALSSMFFFFSLWPACFLS	1.0	10.0	unscreened	-	3713_X:74644584-74644584 G>A_WGNYPVFALSSMFFFFSLWPACFLS
1:93202012-93202012 G>A	1.0	3713	MELANOMA	-	-	-	-	EVI5	ENST00000543509,p.P75L|ENST00000540033,p.P75L|NM_005665,p.P75L|uc010otf.2,p.P75L|ENST00000370331,p.P75L|uc001dox.3,p.P75L	protein_coding, processed_transcript	uc010otf.2	nonsynonymous SNV	exon2	c.C224T	p.P75L	TTLSTPALSPSSPSQLSPDDLELLA	TTLSTPALSPSSLSQLSPDDLELLA	6.0	8.0	-	-	3713_1:93202012-93202012 G>A_TTLSTPALSPSSLSQLSPDDLELLA
7:21744069-21744069 A>-	1.0	3713	MELANOMA	-	-	-	-	DNAH11	NM_001277115,p.L2097fs|ENST00000409508,p.L2097fs|uc031swq.1,p.L294fs|uc031swp.1,p.L2097fs|ENST00000328843,p.L2104fs	retained_intron, protein_coding, processed_transcript	uc031swq.1	frameshift deletion	exon38	c.882delA	p.L294fs	KNRPEDQVLMRALRDFNMPKIVTDD	KNRPEDQVLMRALGISICPK	1.0	7.0	unscreened	-	3713_7:21744069-21744069 A>-_KNRPEDQVLMRALGISICPK
2:27320438-27320438 C>T	1.0	3713	MELANOMA	-	-	ID=COSM1211819,COSM1211820;OCCURENCE=1(large_intestine)	-	KHK	ENST00000429697,p.P207L|NM_000221,p.P162L|uc002rio.2,p.P78L|ENST00000260599,p.P162L|NM_006488,p.P162L|ENST00000260598,p.P162L|uc002rim.2,p.P162L|uc002ril.2,p.P162L	retained_intron, protein_coding, processed_transcript	uc002rio.2	nonsynonymous SNV	exon3	c.C233T	p.P78L	LQRIDAHNTRQPPEQKIRVSVEVEK	LQRIDAHNTRQPLEQKIRVSVEVEK	5.0	5.0	unscreened	-	3713_2:27320438-27320438 C>T_LQRIDAHNTRQPLEQKIRVSVEVEK
1:228538595-228538595 G>A	0.0	3713	MELANOMA	-	-	-	-	OBSCN	NM_001271223,p.D7081N|NM_001098623,p.D6124N|uc009xez.2,p.D6124N|ENST00000422127,p.D6124N|ENST00000284548,p.D6124N|ENST00000366709,p.D3243N|ENST00000366707,p.D3758N|uc001hsq.2,p.D7081N|uc001hsn.4,p.D6124N|NM_052843,p.D6124N|ENST00000570156,p.D7081N|uc001hsr.1,p.D753N	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon77	c.G18370A	p.D6124N	NKVRASPFVEGEDAQFTCTIEGAPY	NKVRASPFVEGENAQFTCTIEGAPY	5.0	1.0	unscreened	-	3713_1:228538595-228538595 G>A_NKVRASPFVEGENAQFTCTIEGAPY
3:155203343-155203343 T>A	1.0	3713	MELANOMA	-	-	-	-	PLCH1	NM_001130960,p.M934L|ENST00000460012,p.M896L|ENST00000414191,p.M896L|ENST00000340059,p.M934L|NM_014996,p.M896L|uc021xge.1,p.M934L|NM_001130961,p.M934L|ENST00000334686,p.M896L|uc021xgf.1,p.M896L|uc021xgd.1,p.M934L|ENST00000494598,p.M914L|ENST00000447496,p.M934L	retained_intron, protein_coding	uc021xgf.1	nonsynonymous SNV	exon21	c.A2686T	p.M896L	ASAPAKGRKKSKMGFQEMVEIKDSV	ASAPAKGRKKSKLGFQEMVEIKDSV	1.0	10.0	unscreened	-	3713_3:155203343-155203343 T>A_ASAPAKGRKKSKLGFQEMVEIKDSV
21:47421932-47421932 G>A	1.0	3713	MELANOMA	-	-	-	-	COL6A1	ENST00000361866,p.E672K|uc002zhu.1,p.E672K|NM_001848,p.E672K	retained_intron, protein_coding, processed_transcript	uc002zhu.1	nonsynonymous SNV	exon31	c.G2014A	p.E672K	AGVVQYSHSQMQEHVSLRSPSIRNV	AGVVQYSHSQMQKHVSLRSPSIRNV	10.0	5.0	-	-	3713_21:47421932-47421932 G>A_AGVVQYSHSQMQKHVSLRSPSIRNV
11:55111078-55111078 G>A	0.0	3713	MELANOMA	-	-	-	-	OR4A16	NM_001005274,p.M134I|ENST00000314721,p.M134I|uc010rie.2,p.M134I	protein_coding	uc010rie.2	nonsynonymous SNV	exon1	c.G402A	p.M134I	VAISKPLHYLNIMNRLVCILLLVVA	VAISKPLHYLNIINRLVCILLLVVA	1.0	8.0	unscreened	-	3713_11:55111078-55111078 G>A_VAISKPLHYLNIINRLVCILLLVVA
17:3181694-3181694 C>T	0.0	3713	MELANOMA	-	-	-	-	OR3A2	uc002fvg.3,p.G179D|ENST00000408891,p.G179D|NM_002551,p.G179D	protein_coding	uc002fvg.3	nonsynonymous SNV	exon1	c.G536A	p.G179D	THTVAMSTLNFCGPNEVNHFYCDLP	THTVAMSTLNFCDPNEVNHFYCDLP	1.0	10.0	unscreened	-	3713_17:3181694-3181694 C>T_THTVAMSTLNFCDPNEVNHFYCDLP
2:179413261-179413261 C>T	0.0	3713	MELANOMA	-	-	-	-	TTN	NM_133437,p.G22158E|uc031rqd.1,p.G29390E|NM_133378,p.G28463E|ENST00000460472,p.G21966E|uc031rqc.1,p.G31031E|NM_133432,p.G22091E|ENST00000591111,p.G29390E|ENST00000359218,p.G22091E|uc021vtb.2,p.G21966E|ENST00000342992,p.G28463E|uc021vta.2,p.G22091E|uc021vsz.2,p.G22158E|NM_003319,p.G21966E|NM_001256850,p.G29390E|ENST00000589042,p.G31031E|NM_001267550,p.G31031E|ENST00000342175,p.G22158E|uc021vsy.2,p.G28463E	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon289	c.G88169A	p.G29390E	PPGPITFKDVTRGSATLMWDAPLLD	PPGPITFKDVTRESATLMWDAPLLD	1.0	10.0	unscreened	-	3713_2:179413261-179413261 C>T_PPGPITFKDVTRESATLMWDAPLLD
17:67082776-67082776 G>A	1.0	3713	MELANOMA	-	-	-	-	ABCA6	NM_080284,p.S1307F|ENST00000284425,p.S1307F|uc002jhw.1,p.S1307F	retained_intron, protein_coding, processed_transcript	uc002jhw.1	nonsynonymous SNV	exon30	c.C3920T	p.S1307F	SKRKKKIAARNISFCVQEGEILGLL	SKRKKKIAARNIFFCVQEGEILGLL	4.0	10.0	unscreened	-	3713_17:67082776-67082776 G>A_SKRKKKIAARNIFFCVQEGEILGLL
10:91222211-91222211 G>A	1.0	3713	MELANOMA	-	-	-	-	SLC16A12	NM_213606,p.P42L|uc001kgm.3,p.P42L|ENST00000371790,p.P42L	protein_coding	uc001kgm.3	nonsynonymous SNV	exon3	c.C125T	p.P42L	TMAKVNRARSTSPPDGGWGWMIVAG	TMAKVNRARSTSLPDGGWGWMIVAG	1.0	4.0	unscreened	-	3713_10:91222211-91222211 G>A_TMAKVNRARSTSLPDGGWGWMIVAG
2:234545531-234545531 T>A	1.0	3713	MELANOMA	-	-	-	-	UGT1A10	ENST00000344644,p.F121L|uc002vur.3,p.F121L|NM_019075,p.F121L|uc002vuq.3,p.F121L|ENST00000373445,p.F121L	protein_coding	uc002vur.3	nonsynonymous SNV	exon1	c.T363A	p.F121L	LMSSSSGFLDLFFSHCRSLFNDRKL	LMSSSSGFLDLFLSHCRSLFNDRKL	1.0	8.0	unscreened	-	3713_2:234545531-234545531 T>A_LMSSSSGFLDLFLSHCRSLFNDRKL
3:195501062-195501062 G>A	0.0	3713	MELANOMA	-	-	-	2	MUC4	ENST00000466475,p.L4358F|uc003fuz.3,p.L33F|ENST00000479406,p.L4358F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003fuz.3	nonsynonymous SNV	exon1	c.C97T	p.L33F	SSSRRLASPLAPLSVIPSTSQTMAR	SSSRRLASPLAPFSVIPSTSQTMAR	1.0	9.0	unscreened	-	3713_3:195501062-195501062 G>A_SSSRRLASPLAPFSVIPSTSQTMAR
22:50728775-50728775 G>A	1.0	3713	MELANOMA	-	-	ID=COSM726727;OCCURENCE=1(lung)	-	PLXNB2	uc003bkv.4,p.P80L|ENST00000359337,p.P80L|ENST00000425954,p.P80L|ENST00000449103,p.P80L|NM_012401,p.P80L|ENST00000432455,p.P80L	retained_intron, protein_coding, processed_transcript	uc003bkv.4	nonsynonymous SNV	exon3	c.C239T	p.P80L	ATGPALDNKKCTPPIEASQCHEAEM	ATGPALDNKKCTLPIEASQCHEAEM	10.0	7.0	unscreened	-	3713_22:50728775-50728775 G>A_ATGPALDNKKCTLPIEASQCHEAEM
2:70188585-70188585 G>A	0.0	3713	MELANOMA	-	-	-	-	ASPRV1	ENST00000320256,p.P79L|NM_152792,p.P79L|uc002sfz.4,p.P79L	protein_coding	uc002sfz.4	nonsynonymous SNV	exon1	c.C236T	p.P79L	GFLFLAWVAAEVPEESSRMAGSGAR	GFLFLAWVAAEVLEESSRMAGSGAR	1.0	10.0	unscreened	-	3713_2:70188585-70188585 G>A_GFLFLAWVAAEVLEESSRMAGSGAR
5:38884169-38884169 G>A	1.0	3713	MELANOMA	-	-	-	-	OSMR	NM_003999,p.G220E|ENST00000274276,p.G220E|ENST00000502536,p.G220E|uc003jlm.2,p.G220E|NM_001168355,p.G220E|uc003jln.2,p.G220E	protein_coding, nonsense_mediated_decay	uc003jln.2	nonsynonymous SNV	exon5	c.G659A	p.G220E	NKGTNIYCEASQGNVSEGMKGIVLF	NKGTNIYCEASQENVSEGMKGIVLF	6.0	3.0	-	-	3713_5:38884169-38884169 G>A_NKGTNIYCEASQENVSEGMKGIVLF
1:173569263-173569263 G>A	0.0	3713	MELANOMA	-	-	-	-	SLC9C2	ENST00000367714,p.S74F|uc001giz.2,p.S74F|NM_178527,p.S74F	protein_coding, processed_transcript	uc001giz.2	nonsynonymous SNV	exon3	c.C221T	p.S74F	LSGFVIGHMAYNSVEVHQIVYPLLR	LSGFVIGHMAYNFVEVHQIVYPLLR	1.0	5.0	unscreened	-	3713_1:173569263-173569263 G>A_LSGFVIGHMAYNFVEVHQIVYPLLR
16:20330980-20330980 C>T	0.0	3713	MELANOMA	-	-	-	-	GP2	ENST00000381362,p.M326I|ENST00000381360,p.M179I|NM_001007240,p.M326I|uc002dgy.3,p.M176I|uc002dgw.3,p.M323I|NM_001007241,p.M179I|ENST00000341642,p.M176I|uc002dgx.3,p.M179I|NM_001502,p.M323I|NM_001007242,p.M176I|uc002dgv.3,p.M326I|ENST00000302555,p.M323I	protein_coding, processed_transcript, nonsense_mediated_decay	uc002dgy.3	nonsynonymous SNV	exon5	c.G528A	p.M176I	LNINFQCAYPLDMKVSLQAALQPIV	LNINFQCAYPLDIKVSLQAALQPIV	1.0	4.0	unscreened	-	3713_16:20330980-20330980 C>T_LNINFQCAYPLDIKVSLQAALQPIV
16:50745009-50745009 C>T	0.0	3713	MELANOMA	-	-	-	-	NOD2	NM_001293557,p.S369F|uc002egm.1,p.S396F|uc010cbk.1,p.S369F|ENST00000300589,p.S396F|NM_022162,p.S396F|uc021tia.1,p.S228F|uc010cbl.1,p.S174F|uc002egl.1,p.S174F|uc010cbm.1,p.S174F	protein_coding, processed_transcript, nonsense_mediated_decay	uc021tia.1	nonsynonymous SNV	exon5	c.C683T	p.S228F	FKFRFTDRERHCSPTDPTSVQTLLF	FKFRFTDRERHCFPTDPTSVQTLLF	5.0	6.0	unscreened	-	3713_16:50745009-50745009 C>T_FKFRFTDRERHCFPTDPTSVQTLLF
19:30934591-30934591 C>T	0.0	3713	MELANOMA	-	-	-	-	ZNF536	NM_014717,p.S41F|ENST00000585628,p.S41F|uc010edd.1,p.S41F|uc002nsu.1,p.S41F|ENST00000591488,p.S41F|ENST00000355537,p.S41F	protein_coding, processed_transcript	uc010edd.1	nonsynonymous SNV	exon2	c.C122T	p.S41F	QYAMSQKLHQITSQLSHAFPELHPR	QYAMSQKLHQITFQLSHAFPELHPR	1.0	5.0	unscreened	-	3713_19:30934591-30934591 C>T_QYAMSQKLHQITFQLSHAFPELHPR
5:150945404-150945404 G>A	0.0	3713	MELANOMA	-	-	ID=COSM225222;OCCURENCE=1(NS)	-	FAT2	NM_001447,p.P1030L|uc003lue.4,p.P1030L|uc010jhx.1,p.P1030L|ENST00000261800,p.P1030L	protein_coding	uc010jhx.1	nonsynonymous SNV	exon1	c.C3089T	p.P1030L	VIVLDVNENLHPPHFASFVHQGQVQ	VIVLDVNENLHPLHFASFVHQGQVQ	1.0	10.0	unscreened	-	3713_5:150945404-150945404 G>A_VIVLDVNENLHPLHFASFVHQGQVQ
X:152613396-152613396 C>T	1.0	3713	MELANOMA	-	-	-	-	ZNF275	ENST00000421401,p.S418L|uc011myn.2,p.S355L|ENST00000370249,p.S365L|ENST00000440091,p.S448L|uc022cht.1,p.S355L	protein_coding	uc022cht.1	nonsynonymous SNV	exon2	c.C1064T	p.S355L	ECSQCGRVFKRRSALQKHQPTHHE	ECSQCGRVFKRRLALQKHQPTHHE	3.0	10.0	unscreened	-	3713_X:152613396-152613396 C>T_ECSQCGRVFKRRLALQKHQPTHHE
10:92508612-92508612 T>C	1.0	3713	MELANOMA	-	-	-	-	HTR7	ENST00000371721,p.R427G	protein_coding	ENST00000371721	nonsynonymous SNV	exon2	c.A1279G	p.R427G	MHEALKLAERPERPEFVLITRTSGV	MHEALKLAERPEGPEFVLITRTSGV	2.0	7.0	unscreened	-	3713_10:92508612-92508612 T>C_MHEALKLAERPEGPEFVLITRTSGV
7:24747822-24747822 G>A	0.0	3713	MELANOMA	-	-	-	-	DFNA5	ENST00000419307,p.P141L|NM_004403,p.P305L|ENST00000409970,p.P141L|ENST00000409775,p.P305L|NM_001127453,p.P305L|ENST00000342947,p.P305L|NM_001127454,p.P141L|ENST00000545231,p.P141L|uc003sxa.1,p.P305L|uc010kus.1,p.P305L|uc010kut.1,p.P141L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kut.1	nonsynonymous SNV	exon6	c.C422T	p.P141L	ERNFHPFAELPEPQQTALSDIFQAV	ERNFHPFAELPELQQTALSDIFQAV	5.0	9.0	-	-	3713_7:24747822-24747822 G>A_ERNFHPFAELPELQQTALSDIFQAV
6:17539648-17539648 C>T	1.0	3713	MELANOMA	-	-	-	-	CAP2	uc011djc.2,p.A150V|NM_006366,p.A262V|uc003ncb.3,p.A262V|uc011djb.2,p.A198V|ENST00000378990,p.A236V|ENST00000489374,p.A150V|ENST00000465994,p.A198V|ENST00000229922,p.A262V|uc011dja.2,p.A236V	protein_coding, nonsense_mediated_decay	uc011djc.2	nonsynonymous SNV	exon5	c.C449T	p.A150V	EGKKEESSPSRSALFAQLNQGEAIT	EGKKEESSPSRSVLFAQLNQGEAIT	3.0	9.0	unscreened	-	3713_6:17539648-17539648 C>T_EGKKEESSPSRSVLFAQLNQGEAIT
12:118198891-118198891 C>T	0.0	3713	MELANOMA	-	-	-	-	KSR2	ENST00000425217,p.G275E|ENST00000339824,p.G304E|uc001two.2,p.G275E|NM_173598,p.G275E	retained_intron, protein_coding, processed_transcript	uc001two.2	nonsynonymous SNV	exon4	c.G824A	p.G275E	PPSSRKLIHLIPGFTALHRSKSHEF	PPSSRKLIHLIPEFTALHRSKSHEF	1.0	5.0	unscreened	-	3713_12:118198891-118198891 C>T_PPSSRKLIHLIPEFTALHRSKSHEF
2:27016112-27016112 C>T	1.0	3713	MELANOMA	-	-	-	-	CENPA	ENST00000335756,p.R130W|NM_001809,p.R130W|ENST00000233505,p.R104W|uc002rhs.3,p.R104W|uc002rhr.3,p.R130W|NM_001042426,p.R104W	protein_coding, processed_transcript, nonsense_mediated_decay	uc002rhs.3	nonsynonymous SNV	exon3	c.C310T	p.R104W	RVTLFPKDVQLARRIRGLEEGLG	RVTLFPKDVQLAWRIRGLEEGLG	4.0	10.0	-	-	3713_2:27016112-27016112 C>T_RVTLFPKDVQLAWRIRGLEEGLG
2:113764184-113764184 C>T	0.0	3713	MELANOMA	-	-	-	-	IL36A	uc010yxr.2,p.A45V|NM_014440,p.A45V|ENST00000259211,p.A45V	protein_coding	uc010yxr.2	nonsynonymous SNV	exon3	c.C134T	p.A45V	VPRKDRMSPVTIALISCRHVETLEK	VPRKDRMSPVTIVLISCRHVETLEK	1.0	4.0	unscreened	-	3713_2:113764184-113764184 C>T_VPRKDRMSPVTIVLISCRHVETLEK
12:70088168-70088168 G>A	0.0	3713	MELANOMA	-	-	-	-	BEST3	ENST00000548658,p.P77S	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000548658	nonsynonymous SNV	exon3	c.C229T	p.P77S	LSIYCDRYAEQIPVTFVLGFMTTDE	LSIYCDRYAEQISVTFVLGFMTTDE	1.0	9.0	unscreened	-	3713_12:70088168-70088168 G>A_LSIYCDRYAEQISVTFVLGFMTTDE
13:43843653-43843653 C>T	1.0	3713	MELANOMA	-	-	ID=COSM1706740,COSM1706739;OCCURENCE=1(skin)	-	ENOX1	NM_017993,p.E503K|NM_001127615,p.E503K|NM_001242863,p.E503K|ENST00000412891,p.E503K|uc001uzb.4,p.E503K|uc001uza.4,p.E503K|ENST00000261488,p.E503K|uc001uzc.4,p.E503K	protein_coding, processed_transcript	uc001uzc.4	nonsynonymous SNV	exon13	c.G1507A	p.E503K	LNNKKSELEQAKEEQSHTQALLKVL	LNNKKSELEQAKKEQSHTQALLKVL	2.0	6.0	unscreened	-	3713_13:43843653-43843653 C>T_LNNKKSELEQAKKEQSHTQALLKVL
4:81187997-81187997 C>T	0.0	3713	MELANOMA	-	-	-	-	FGF5	ENST00000312465,p.L7F|uc003hmd.3,p.L7F|ENST00000456523,p.L7F|NM_004464,p.L7F|uc003hme.3,p.L7F|NM_033143,p.L7F	protein_coding, processed_transcript, nonsense_mediated_decay	uc003hme.3	nonsynonymous SNV	exon1	c.C19T	p.L7F	MSLSFLLLLFFSHLILSAW	MSLSFLFLLFFSHLILSAW	1.0	5.0	unscreened	-	3713_4:81187997-81187997 C>T_MSLSFLFLLFFSHLILSAW
1:158151824-158151824 C>T	0.0	3713	MELANOMA	-	-	-	-	CD1D	NM_001766,p.P111S|ENST00000368171,p.P111S|uc009wss.3,p.P111S|uc009wsr.1,p.P111S|uc001frr.3,p.P111S	protein_coding	uc009wss.3	nonsynonymous SNV	exon3	c.C331T	p.P111S	VKEFAKMLRLSYPLELQVSAGCEVH	VKEFAKMLRLSYSLELQVSAGCEVH	3.0	5.0	unscreened	-	3713_1:158151824-158151824 C>T_VKEFAKMLRLSYSLELQVSAGCEVH
4:115760683-115760683 G>A	0.0	3713	MELANOMA	-	-	ID=COSM353251;OCCURENCE=1(lung)	-	NDST4	uc003ibu.3,p.P713S|ENST00000264363,p.P713S|NM_022569,p.P713S	retained_intron, protein_coding, nonsense_mediated_decay	uc003ibu.3	nonsynonymous SNV	exon11	c.C2137T	p.P713S	YSWYQHQRSHEDPAALRFNFYEVIS	YSWYQHQRSHEDSAALRFNFYEVIS	1.0	10.0	unscreened	-	3713_4:115760683-115760683 G>A_YSWYQHQRSHEDSAALRFNFYEVIS
7:141831413-141831413 C>T	0.0	3713	MELANOMA	-	-	-	-	LOC93432	uc003vwz.3,p.R136W|ENST00000477922,p.R136W|ENST00000550469,p.R136W|NM_001293626,p.R136W	retained_intron, protein_coding	uc003vwz.3	nonsynonymous SNV	exon5	c.C406T	p.R136W	TTLFTAEYQTSNRFHFKITDFNNIR	TTLFTAEYQTSNWFHFKITDFNNIR	1.0	7.0	unscreened	-	3713_7:141831413-141831413 C>T_TTLFTAEYQTSNWFHFKITDFNNIR
19:15905342-15905342 G>A	0.0	3713	MELANOMA	-	-	-	-	OR10H5	ENST00000308940,p.A162T|uc010xos.2,p.A162T|NM_001004466,p.A162T	protein_coding	uc010xos.2	nonsynonymous SNV	exon1	c.G484A	p.A162T	AGGLVMGMVVTSAIFHLAFCGHKEI	AGGLVMGMVVTSTIFHLAFCGHKEI	1.0	9.0	unscreened	-	3713_19:15905342-15905342 G>A_AGGLVMGMVVTSTIFHLAFCGHKEI
2:50758469-50758469 G>A	0.0	3713	MELANOMA	-	-	-	-	NRXN1	uc021vhh.1,p.S748F|ENST00000406316,p.S748F|NM_004801,p.S748F|uc021vhg.1,p.S788F|ENST00000406859,p.S748F|ENST00000404971,p.S788F|ENST00000405472,p.S740F|uc002rxb.4,p.S420F|ENST00000402717,p.S740F|ENST00000401669,p.S748F|NM_001135659,p.S788F	retained_intron, protein_coding, processed_transcript	uc021vhh.1	nonsynonymous SNV	exon10	c.C2243T	p.S748F	HTEAEDVSLRFRSQRAYGILMATTS	HTEAEDVSLRFRFQRAYGILMATTS	1.0	8.0	unscreened	-	3713_2:50758469-50758469 G>A_HTEAEDVSLRFRFQRAYGILMATTS
12:124885163-124885163 G>A	1.0	3713	MELANOMA	-	-	-	1	NCOR2	ENST00000404121,p.S136F|ENST00000404621,p.S565F|ENST00000356219,p.S566F|ENST00000458234,p.S566F|uc001ugj.1,p.S566F|NM_001206654,p.S565F|ENST00000397355,p.S566F|uc010tbb.2,p.S566F|ENST00000429285,p.S565F|uc010tba.2,p.S566F|ENST00000405201,p.S566F|uc010tbc.2,p.S565F|NM_006312,p.S566F|NM_001077261,p.S565F|uc021rgc.1,p.S565F	retained_intron, protein_coding	uc021rgc.1	nonsynonymous SNV	exon17	c.C1694T	p.S565F	SGEDNDEKEAVASKGRKTANSQGRR	SGEDNDEKEAVAFKGRKTANSQGRR	6.0	9.0	unscreened	-	3713_12:124885163-124885163 G>A_SGEDNDEKEAVAFKGRKTANSQGRR
X:115585582-115585582 C>T	0.0	3713	MELANOMA	-	-	-	-	SLC6A14	NM_007231,p.L460F|uc004eqi.3,p.L460F|ENST00000371900,p.L460F	protein_coding, processed_transcript	uc004eqi.3	nonsynonymous SNV	exon10	c.C1378T	p.L460F	VPITLGCCLVLFLLGLVCVTQAGIY	VPITLGCCLVLFFLGLVCVTQAGIY	1.0	10.0	unscreened	-	3713_X:115585582-115585582 C>T_VPITLGCCLVLFFLGLVCVTQAGIY
11:106680916-106680916 G>A	1.0	3713	MELANOMA	-	-	-	-	GUCY1A2	uc010rvo.2,p.P520S|uc001pjg.2,p.P499S|ENST00000282249,p.P499S|ENST00000526355,p.P499S|NM_001256424,p.P499S|ENST00000347596,p.P520S|NM_000855,p.P499S|uc001pjf.5,p.P499S	protein_coding	uc010rvo.2	nonsynonymous SNV	exon6	c.C1558T	p.P520S	KKKTVDLLYSIFPGDVAQQLWQGQQ	KKKTVDLLYSIFSGDVAQQLWQGQQ	2.0	7.0	unscreened	-	3713_11:106680916-106680916 G>A_KKKTVDLLYSIFSGDVAQQLWQGQQ
3:14861564-14861564 C>T	0.0	3713	MELANOMA	-	-	-	-	FGD5	ENST00000543601,p.P88L|ENST00000285046,p.P329L|uc003bzc.3,p.P329L|uc011avk.2,p.P329L|NM_152536,p.P329L	retained_intron, protein_coding, processed_transcript	uc011avk.2	nonsynonymous SNV	exon1	c.C986T	p.P329L	QDESAEESCQIVPFENDCMEDFVTS	QDESAEESCQIVLFENDCMEDFVTS	3.0	2.0	unscreened	-	3713_3:14861564-14861564 C>T_QDESAEESCQIVLFENDCMEDFVTS
10:61029806-61029806 G>A	0.0	3713	MELANOMA	-	-	-	-	FAM13C	uc001jko.3,p.S219F|uc010qid.2,p.S136F|uc001jkn.3,p.S219F|NM_198215,p.S219F|ENST00000277705,p.S240F|NM_001166698,p.S136F|NM_001143773,p.S136F|ENST00000468840,p.S136F|ENST00000422313,p.S219F|uc001jkp.3,p.S136F|NM_001001971,p.S219F|uc010qif.1,p.S241F|ENST00000373868,p.S219F|ENST00000373867,p.S136F|uc010qie.2,p.S136F|ENST00000435852,p.S219F|ENST00000419214,p.S219F|ENST00000442566,p.S240F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qif.1	nonsynonymous SNV	exon7	c.C722T	p.S241F	QNEADSAPEDLHSVGTSRLLYHITD	QNEADSAPEDLHFVGTSRLLYHITD	3.0	4.0	unscreened	-	3713_10:61029806-61029806 G>A_QNEADSAPEDLHFVGTSRLLYHITD
12:112609047-112609047 G>C	1.0	3713	MELANOMA	-	-	-	-	HECTD4	uc021reb.1,p.R3802G|NM_001109662,p.R3802G|ENST00000377560,p.R3764G|ENST00000550722,p.R3790G|ENST00000430131,p.R3514G	retained_intron, protein_coding, processed_transcript	uc021reb.1	nonsynonymous SNV	exon68	c.C11404G	p.R3802G	VACLLNVPIESLRLRFALLQSLNTT	VACLLNVPIESLGLRFALLQSLNTT	4.0	9.0	-	-	3713_12:112609047-112609047 G>C_VACLLNVPIESLGLRFALLQSLNTT
8:48842416-48842416 G>C	1.0	3713	MELANOMA	-	-	-	-	PRKDC	uc003xqi.3,p.F683L|uc003xqj.3,p.F683L|ENST00000338368,p.F683L|ENST00000314191,p.F683L	retained_intron, protein_coding, processed_transcript	uc003xqj.3	nonsynonymous SNV	exon18	c.C2049G	p.F683L	SITVRNAKKIKYFEGVSPKSLKHSP	SITVRNAKKIKYLEGVSPKSLKHSP	8.0	10.0	-	-	3713_8:48842416-48842416 G>C_SITVRNAKKIKYLEGVSPKSLKHSP
1:62739232-62739232 C>T	0.0	3713	MELANOMA	-	-	-	-	KANK4	NM_181712,p.G515E|uc001dah.4,p.G515E|ENST00000371153,p.G515E	protein_coding	uc001dah.4	nonsynonymous SNV	exon3	c.G1544A	p.G515E	EAGTEQEGGPQGGTRGAGGFLWGSD	EAGTEQEGGPQGETRGAGGFLWGSD	1.0	3.0	unscreened	-	3713_1:62739232-62739232 C>T_EAGTEQEGGPQGETRGAGGFLWGSD
11:76901083-76901083 C>T	0.0	3713	MELANOMA	-	-	-	-	MYO7A	ENST00000458169,p.H398Y|uc009yut.1,p.H428Y|uc001oyc.2,p.H1217Y|NM_001127180,p.H1217Y|uc001oyb.2,p.H1217Y|uc010rsm.1,p.H1206Y|ENST00000458637,p.H1217Y|ENST00000409619,p.H1206Y|ENST00000409709,p.H1217Y|NM_000260,p.H1217Y	retained_intron, protein_coding, processed_transcript	uc010rsm.1	nonsynonymous SNV	exon30	c.C3616T	p.H1206Y	SEKFVKYLRNFIHGGPPGYAPYCEE	SEKFVKYLRNFIYGGPPGYAPYCEE	4.0	1.0	unscreened	-	3713_11:76901083-76901083 C>T_SEKFVKYLRNFIYGGPPGYAPYCEE
22:31487817-31487817 G>A	1.0	3713	MELANOMA	-	-	-	-	SMTN	ENST00000333137,p.G539E|NM_134270,p.G539E|uc003ajl.2,p.G539E|NM_006932,p.G539E|uc003ajm.2,p.G539E|ENST00000347557,p.G539E|NM_134269,p.G539E|NM_001207018,p.G595E|uc003ajk.2,p.G539E|uc011alf.2,p.G595E|ENST00000358743,p.G539E	retained_intron, protein_coding, processed_transcript	uc011alf.2	nonsynonymous SNV	exon10	c.G1784A	p.G595E	VTSFSHAPPSSRGGCSIKMEAEPAE	VTSFSHAPPSSREGCSIKMEAEPAE	7.0	7.0	-	-	3713_22:31487817-31487817 G>A_VTSFSHAPPSSREGCSIKMEAEPAE
2:168104834-168104834 C>T	0.0	3713	MELANOMA	-	-	-	-	XIRP2	NM_152381,p.P2311L|uc002udx.3,p.P2311L|ENST00000409273,p.P2089L|NM_001199144,p.P2089L|ENST00000295237,p.P2311L|uc002udy.3,p.P2136L|ENST00000409195,p.P2311L|uc010fpq.3,p.P2089L	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.C6266T	p.P2089L	PSNASSEIEFPLPPPPPLMMFPEKN	PSNASSEIEFPLLPPPPLMMFPEKN	1.0	10.0	unscreened	-	3713_2:168104834-168104834 C>T_PSNASSEIEFPLLPPPPLMMFPEKN
4:59360-59360 C>T	0.0	3713	MELANOMA	-	-	-	-	ZNF595,ZNF718	uc003fzt.4,p.S14F	retained_intron, protein_coding, processed_transcript	uc003fzt.4	nonsynonymous SNV	exon2	c.C41T	p.S14F	ELLTFKDVAIEFSPEEWKCLDISQQ	ELLTFKDVAIEFFPEEWKCLDISQQ	1.0	1.0	unscreened	-	3713_4:59360-59360 C>T_ELLTFKDVAIEFFPEEWKCLDISQQ
10:115922711-115922711 G>A	1.0	3713	MELANOMA	-	-	-	-	CCDC186	ENST00000369286,p.S106L|ENST00000369285,p.S106L|ENST00000369287,p.S106L|uc001lbc.1,p.S106L|uc001lbb.1,p.S106L|uc001lbe.3,p.S106L|NM_018017,p.S106L|uc001lbd.3,p.S106L	protein_coding, processed_transcript	uc001lbe.3	nonsynonymous SNV	exon2	c.C317T	p.S106L	ANFPSGNFAKHISKTNETEQKVTQI	ANFPSGNFAKHILKTNETEQKVTQI	5.0	5.0	unscreened	-	3713_10:115922711-115922711 G>A_ANFPSGNFAKHILKTNETEQKVTQI
12:54930745-54930745 C>T	0.0	3713	MELANOMA	-	-	-	-	NCKAP1L	uc010soy.2,p.H981Y|ENST00000293373,p.H1031Y|uc010sox.2,p.H573Y|NM_001184976,p.H981Y|NM_005337,p.H1031Y|uc001sgc.4,p.H1031Y|ENST00000545638,p.H981Y	retained_intron, protein_coding, nonsense_mediated_decay	uc010soy.2	nonsynonymous SNV	exon29	c.C2941T	p.H981Y	YSIEKDGYNNNIHCLTKAIIQVSAA	YSIEKDGYNNNIYCLTKAIIQVSAA	6.0	6.0	unscreened	-	3713_12:54930745-54930745 C>T_YSIEKDGYNNNIYCLTKAIIQVSAA
5:1255437-1255437 G>A	0.0	3713	MELANOMA	-	-	-	1	TERT	ENST00000310581,p.S1041F|ENST00000334602,p.S978F|uc003jcc.1,p.S978F|NM_001193376,p.S978F|uc003jbz.1,p.S237F|NM_198253,p.S1041F|uc003jcb.1,p.S1041F|uc003jca.1,p.S1029F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jcc.1	nonsynonymous SNV	exon13	c.C2933T	p.S978F	PTFFLRVISDTASLCYSILKAKNAG	PTFFLRVISDTAFLCYSILKAKNAG	2.0	6.0	unscreened	-	3713_5:1255437-1255437 G>A_PTFFLRVISDTAFLCYSILKAKNAG
3:111664188-111664188 C>T	1.0	3713	MELANOMA	-	-	-	-	PHLDB2	NM_001134438,p.P824L|uc003dyh.3,p.P781L|ENST00000498699,p.P781L|ENST00000431670,p.P824L|uc003dyc.3,p.P808L|uc003dyd.3,p.P781L|uc003dyg.3,p.P824L|NM_145753,p.P781L|ENST00000393925,p.P824L|NM_001134437,p.P808L|ENST00000412622,p.P781L|ENST00000481953,p.P781L|uc010hqa.3,p.P824L|ENST00000393923,p.P808L|NM_001134439,p.P824L	retained_intron, protein_coding, processed_transcript	uc010hqa.3	nonsynonymous SNV	exon9	c.C2471T	p.P824L	SSLSGGKGFPVNPNTLKEGYISVNE	SSLSGGKGFPVNLNTLKEGYISVNE	2.0	2.0	unscreened	-	3713_3:111664188-111664188 C>T_SSLSGGKGFPVNLNTLKEGYISVNE
19:17057916-17057916 G>A	0.0	3713	MELANOMA	-	-	-	-	CPAMD8	uc002nfb.3,p.S924F|ENST00000443236,p.S924F|NM_015692,p.S924F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nfb.3	nonsynonymous SNV	exon21	c.C2771T	p.S924F	APGEAEPIWVVLSFSDLGLNNITAK	APGEAEPIWVVLFFSDLGLNNITAK	1.0	4.0	unscreened	-	3713_19:17057916-17057916 G>A_APGEAEPIWVVLFFSDLGLNNITAK
1:228487000-228487000 G>T	1.0	3713	MELANOMA	-	-	-	-	OBSCN	ENST00000366707,p.E1107D|uc001hsq.2,p.E4417D|ENST00000570156,p.E4417D|NM_001271223,p.E4417D	retained_intron, protein_coding, processed_transcript	uc001hsq.2	nonsynonymous SNV	exon50	c.G13251T	p.E4417D	LPARFTEGLRNEEAMEGATATLQCE	LPARFTEGLRNEDAMEGATATLQCE	5.0	1.0	unscreened	-	3713_1:228487000-228487000 G>T_LPARFTEGLRNEDAMEGATATLQCE
16:31501820-31501820 G>A	1.0	3713	MELANOMA	-	-	-	-	SLC5A2	ENST00000330498,p.M661I|NM_003041,p.M661I|uc002ecf.4,p.M661I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ecf.4	nonsynonymous SNV	exon14	c.G1983A	p.M661I	WARVVNLNALLMMAVAVFLWGFYA	WARVVNLNALLMIAVAVFLWGFYA	1.0	2.0	unscreened	-	3713_16:31501820-31501820 G>A_WARVVNLNALLMIAVAVFLWGFYA
2:191898652-191898652 G>A	0.0	3713	MELANOMA	-	-	-	-	STAT4	ENST00000392320,p.P567L|ENST00000358470,p.P567L|uc002usm.2,p.P567L|uc010zgk.1,p.P412L|uc002uso.2,p.P567L|NM_001243835,p.P567L|uc002usn.2,p.P567L|NM_003151,p.P567L	retained_intron, protein_coding, processed_transcript	uc010zgk.1	nonsynonymous SNV	exon14	c.C1235T	p.P412L	EAILDLIKKHILPLWIDGYVMGFVS	EAILDLIKKHILLLWIDGYVMGFVS	4.0	3.0	unscreened	-	3713_2:191898652-191898652 G>A_EAILDLIKKHILLLWIDGYVMGFVS
6:27783159-27783159 C>T	0.0	3713	MELANOMA	-	-	-	-	HIST1H2BM	NM_003521,p.S113F|uc003njo.3,p.S113F|ENST00000359465,p.S113F	protein_coding	uc003njo.3	nonsynonymous SNV	exon1	c.C338T	p.S113F	LLLPGELAKHAVSEGTKAVTKYTSS	LLLPGELAKHAVFEGTKAVTKYTSS	1.0	1.0	unscreened	-	3713_6:27783159-27783159 C>T_LLLPGELAKHAVFEGTKAVTKYTSS
12:70088168-70088168 G>A	0.0	3713	MELANOMA	-	-	-	-	BEST3	NM_032735,p.P77S|ENST00000330891,p.P77S|ENST00000331471,p.P77S|uc001svd.2,p.P77S|uc001svg.3,p.P77S|NM_001282614,p.P77S	protein_coding, processed_transcript, nonsense_mediated_decay	uc001svg.3	nonsynonymous SNV	exon3	c.C229T	p.P77S	LSIYCDRYAEQIPVTFVLGFYVTLV	LSIYCDRYAEQISVTFVLGFYVTLV	1.0	9.0	unscreened	-	3713_12:70088168-70088168 G>A_LSIYCDRYAEQISVTFVLGFYVTLV
14:44973758-44973758 T>A	0.0	3713	MELANOMA	-	-	-	-	FSCB	ENST00000340446,p.E811D|NM_032135,p.E811D|uc001wvn.3,p.E811D	protein_coding	uc001wvn.3	nonsynonymous SNV	exon1	c.A2433T	p.E811D	NTNDGQAPTLEIESVFHIELKQRPP	NTNDGQAPTLEIDSVFHIELKQRPP	1.0	3.0	unscreened	-	3713_14:44973758-44973758 T>A_NTNDGQAPTLEIDSVFHIELKQRPP
11:4968095-4968095 G>A	0.0	3713	MELANOMA	-	-	-	-	OR51A4	NM_001005329,p.S79F|ENST00000380373,p.S79F|uc010qys.2,p.S79F	protein_coding	uc010qys.2	nonsynonymous SNV	exon1	c.C236T	p.S79F	MLAMSDLGLSLSSLPTVLSIFLFNA	MLAMSDLGLSLSFLPTVLSIFLFNA	1.0	1.0	unscreened	-	3713_11:4968095-4968095 G>A_MLAMSDLGLSLSFLPTVLSIFLFNA
1:156449444-156449444 G>A	1.0	3713	MELANOMA	-	-	-	-	MEF2D	ENST00000454816,p.P180S|ENST00000353795,p.P135S|ENST00000368240,p.P181S|ENST00000360595,p.P181S|ENST00000340875,p.P180S|ENST00000348159,p.P181S|uc001fpd.4,p.P181S|NM_005920,p.P181S|uc001fpc.4,p.P181S|NM_001271629,p.P181S|uc001fpb.4,p.P181S|uc001fpe.2,p.P181S	protein_coding, processed_transcript	uc001fpe.2	nonsynonymous SNV	exon5	c.C541T	p.P181S	VTSSLTDPRLLSPQQPALQRNSVSP	VTSSLTDPRLLSSQQPALQRNSVSP	7.0	8.0	unscreened	-	3713_1:156449444-156449444 G>A_VTSSLTDPRLLSSQQPALQRNSVSP
5:140574262-140574262 G>A	1.0	3713	MELANOMA	-	-	-	-	PCDHB10	uc003lix.3,p.V713M|ENST00000239446,p.V713M|NM_018930,p.V713M	protein_coding	uc003lix.3	nonsynonymous SNV	exon1	c.G2137A	p.V713M	SLFLLSVLLFVAVRLCRRSRAASVG	SLFLLSVLLFVAMRLCRRSRAASVG	2.0	8.0	unscreened	-	3713_5:140574262-140574262 G>A_SLFLLSVLLFVAMRLCRRSRAASVG
6:27419498-27419498 A>C	1.0	3713	MELANOMA	-	-	-	-	ZNF184	uc003njj.3,p.Y614D|ENST00000377419,p.Y614D|NM_007149,p.Y614D|uc010jqv.3,p.Y614D|ENST00000211936,p.Y614D|uc003nji.3,p.Y614D	protein_coding	uc010jqv.3	nonsynonymous SNV	exon6	c.T1840G	p.Y614D	TQHKRIHTGAKPYECAECGKAFRHC	TQHKRIHTGAKPDECAECGKAFRHC	6.0	2.0	unscreened	-	3713_6:27419498-27419498 A>C_TQHKRIHTGAKPDECAECGKAFRHC
11:44958855-44958855 C>T	1.0	3713	MELANOMA	-	-	-	-	TP53I11	ENST00000532253,p.G60S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000532253	nonsynonymous SNV	exon3	c.G178A	p.G60S	RLCCALLRHCHHGACLP	RLCCALLRHCHHSACLP	6.0	4.0	unscreened	-	3713_11:44958855-44958855 C>T_RLCCALLRHCHHSACLP
2:232880245-232880245 C>T	1.0	3713	MELANOMA	-	-	-	-	DIS3L2	uc031rrt.1,p.P25L|NM_001257282,p.P25L|ENST00000390005,p.P25L|ENST00000445090,p.P25L|ENST00000433430,p.P25L|ENST00000360410,p.P25L|ENST00000325385,p.P25L|NM_001257281,p.P25L|ENST00000273009,p.P25L|uc010fxz.3,p.P25L|ENST00000441279,p.P25L|NM_152383,p.P25L|ENST00000409307,p.P25L|ENST00000409401,p.P25L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rrt.1	nonsynonymous SNV	exon3	c.C74T	p.P25L	LGTPRGVSAVAGPHDIGASPGDKKS	LGTPRGVSAVAGLHDIGASPGDKKS	7.0	8.0	-	-	3713_2:232880245-232880245 C>T_LGTPRGVSAVAGLHDIGASPGDKKS
1:216348673-216348673 C>T	0.0	3713	MELANOMA	-	-	-	-	USH2A	ENST00000366943,p.M1516I|uc001hkv.3,p.M1516I|ENST00000366942,p.M1516I|uc001hku.1,p.M1516I|ENST00000307340,p.M1516I|NM_206933,p.M1516I|NM_007123,p.M1516I	retained_intron, protein_coding	uc001hkv.3	nonsynonymous SNV	exon21	c.G4548A	p.M1516I	RRESSLPALMTTMMKGIRFIGNGYC	RRESSLPALMTTIMKGIRFIGNGYC	1.0	4.0	unscreened	-	3713_1:216348673-216348673 C>T_RRESSLPALMTTIMKGIRFIGNGYC
7:92132489-92132489 C>T	1.0	3713	MELANOMA	-	-	-	-	PEX1	NM_001282677,p.E641K|uc010ley.3,p.E641K|ENST00000428214,p.E641K	retained_intron, protein_coding, nonsense_mediated_decay	uc010ley.3	nonsynonymous SNV	exon12	c.G1921A	p.E641K	CKALRALNDMIKEFISMGSLVALIA	CKALRALNDMIKKFISMGSLVALIA	8.0	8.0	-	-	3713_7:92132489-92132489 C>T_CKALRALNDMIKKFISMGSLVALIA
7:123672426-123672426 G>A	0.0	3713	MELANOMA	-	-	-	-	TMEM229A	NM_001136002,p.A211V|ENST00000455783,p.A211V|uc011kob.2,p.A211V	protein_coding	uc011kob.2	nonsynonymous SNV	exon1	c.C632T	p.A211V	QQRRGALPVPPGARVPTAAGARRRR	QQRRGALPVPPGVRVPTAAGARRRR	1.0	1.0	unscreened	-	3713_7:123672426-123672426 G>A_QQRRGALPVPPGVRVPTAAGARRRR
5:131915672-131915672 C>T	1.0	3713	MELANOMA	-	-	-	-	RAD50	ENST00000453394,p.R224C|ENST00000378823,p.R85C|uc003kxh.3,p.R85C|uc003kxg.1,p.R125C|NM_005732,p.R224C|ENST00000423956,p.R224C|uc003kxi.3,p.R224C|ENST00000265335,p.R224C	protein_coding, processed_transcript, nonsense_mediated_decay	uc003kxi.3	nonsynonymous SNV	exon5	c.C670T	p.R224C	YLKQYKEKACEIRDQITSKEAQLTS	YLKQYKEKACEICDQITSKEAQLTS	9.0	2.0	unscreened	-	3713_5:131915672-131915672 C>T_YLKQYKEKACEICDQITSKEAQLTS
5:31323267-31323267 G>A	0.0	3713	MELANOMA	-	-	-	-	CDH6	NM_004932,p.G742D|uc003jhe.2,p.G742D|ENST00000265071,p.G742D	retained_intron, protein_coding	uc003jhe.2	nonsynonymous SNV	exon12	c.G2225A	p.G742D	PPYDSLATYAYEGTGSVADSLSSLE	PPYDSLATYAYEDTGSVADSLSSLE	1.0	4.0	unscreened	-	3713_5:31323267-31323267 G>A_PPYDSLATYAYEDTGSVADSLSSLE
11:5510414-5510414 T>G	0.0	3713	MELANOMA	-	-	-	-	OR52D1	NM_001005163,p.S160A|uc010qzg.2,p.S160A|ENST00000322641,p.S160A	protein_coding	uc010qzg.2	nonsynonymous SNV	exon1	c.T478G	p.S160A	GFVGLFRSVAIVSPFIFLLRRLPYC	GFVGLFRSVAIVAPFIFLLRRLPYC	1.0	6.0	unscreened	-	3713_11:5510414-5510414 T>G_GFVGLFRSVAIVAPFIFLLRRLPYC
7:30921827-30921827 C>T	1.0	3713	MELANOMA	-	-	-	-	FAM188B	NM_032222,p.P668L|uc011kac.1,p.P14L|uc003tbu.3,p.P188L|uc003tbt.3,p.P668L|uc010kwe.3,p.P639L|ENST00000265299,p.P668L|ENST00000509504,p.P131L|ENST00000434909,p.P14L	protein_coding, processed_transcript	uc011kac.1	nonsynonymous SNV	exon5	c.C41T	p.P14L	CQVGCFLKTPRFPIWVVCSESHFSI	CQVGCFLKTPRFLIWVVCSESHFSI	5.0	9.0	unscreened	-	3713_7:30921827-30921827 C>T_CQVGCFLKTPRFLIWVVCSESHFSI
16:20482991-20482991 G>A	0.0	3713	MELANOMA	-	-	-	-	ACSM2A	uc010vax.1,p.D213N|NM_001010845,p.D292N|ENST00000575690,p.D292N|ENST00000573854,p.D292N|uc010bwe.3,p.D292N|ENST00000536134,p.D64N|ENST00000219054,p.D292N|uc010vay.2,p.D213N|ENST00000396104,p.D292N|ENST00000417235,p.D213N|uc002dhf.4,p.D292N|uc002dhg.4,p.D292N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vay.2	nonsynonymous SNV	exon5	c.G637A	p.D213N	GACTFVHLLPKFDPLVILKTLSSYP	GACTFVHLLPKFNPLVILKTLSSYP	1.0	3.0	unscreened	-	3713_16:20482991-20482991 G>A_GACTFVHLLPKFNPLVILKTLSSYP
19:21607160-21607160 C>T	1.0	3713	MELANOMA	-	-	-	-	ZNF493	ENST00000355504,p.H439Y|uc002npx.3,p.H439Y|uc002npw.3,p.H567Y|NM_175910,p.H439Y|uc002npy.3,p.H439Y|NM_001076678,p.H567Y|ENST00000392288,p.H567Y|uc021urq.1,p.H439Y	retained_intron, protein_coding, nonsense_mediated_decay	uc021urq.1	nonsynonymous SNV	exon1	c.C1315T	p.H439Y	NRSSHLTTHKRIHTGHKPYKCKECG	NRSSHLTTHKRIYTGHKPYKCKECG	6.0	9.0	unscreened	-	3713_19:21607160-21607160 C>T_NRSSHLTTHKRIYTGHKPYKCKECG
1:201179776-201179776 G>A	1.0	3713	MELANOMA	-	-	-	-	IGFN1	ENST00000335211,p.G1919R|uc001gwc.3,p.G1919R|NM_001164586,p.G1919R	retained_intron, protein_coding, nonsense_mediated_decay	uc001gwc.3	nonsynonymous SNV	exon12	c.G5755A	p.G1919R	GFRDGLGSSVEMGSVNEAGYRKDLG	GFRDGLGSSVEMRSVNEAGYRKDLG	1.0	1.0	unscreened	-	3713_1:201179776-201179776 G>A_GFRDGLGSSVEMRSVNEAGYRKDLG
6:69772894-69772894 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1081134;OCCURENCE=1(endometrium)	-	BAI3	NM_001704,p.S801L|uc010kak.3,p.S801L|uc003pev.4,p.S801L|ENST00000370598,p.S801L	protein_coding	uc010kak.3	nonsynonymous SNV	exon15	c.C2402T	p.S801L	VVTIRPEPKTTDSFLEIELAHLANG	VVTIRPEPKTTDLFLEIELAHLANG	1.0	7.0	unscreened	-	3713_6:69772894-69772894 C>T_VVTIRPEPKTTDLFLEIELAHLANG
1:160327005-160327005 C>T	1.0	3713	MELANOMA	-	-	-	-	NCSTN	NM_001290184,p.R637C|ENST00000368065,p.R399C|uc010pjg.2,p.R399C|NM_001290186,p.R519C|uc010pjf.2,p.R519C|ENST00000368063,p.R637C|ENST00000294785,p.R657C|ENST00000535857,p.R519C|uc001fvy.3,p.R637C|uc001fvx.3,p.R657C|ENST00000392212,p.R637C|NM_015331,p.R657C	protein_coding, processed_transcript	uc010pjg.2	nonsynonymous SNV	exon11	c.C1195T	p.R399C	YSTWTESRWKDIRARIFLIASKELE	YSTWTESRWKDICARIFLIASKELE	10.0	3.0	-	-	3713_1:160327005-160327005 C>T_YSTWTESRWKDICARIFLIASKELE
3:113667758-113667758 C>T	1.0	3713	MELANOMA	-	-	-	-	ZDHHC23	uc003eav.3,p.H31Y|NM_173570,p.H37Y|ENST00000491556,p.H37Y|ENST00000478793,p.H37Y|uc003eau.3,p.H37Y|ENST00000498275,p.H31Y|ENST00000330212,p.H37Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc003eav.3	nonsynonymous SNV	exon3	c.C91T	p.H31Y	CCEYIDRNGEKNHVATCLCDCQDLD	CCEYIDRNGEKNYVATCLCDCQDLD	3.0	1.0	-	-	3713_3:113667758-113667758 C>T_CCEYIDRNGEKNYVATCLCDCQDLD
1:159827703-159827703 C>T	0.0	3713	MELANOMA	-	-	-	-	VSIG8	ENST00000368100,p.D162N|NM_001013661,p.D162N|uc001fuh.3,p.D162N	protein_coding	uc001fuh.3	nonsynonymous SNV	exon4	c.G484A	p.D162N	MCWTEGHMTYGNDVVLKCYASGGSQ	MCWTEGHMTYGNNVVLKCYASGGSQ	1.0	8.0	unscreened	-	3713_1:159827703-159827703 C>T_MCWTEGHMTYGNNVVLKCYASGGSQ
1:94643263-94643263 G>A	1.0	3713	MELANOMA	-	-	ID=COSM1688068;OCCURENCE=1(skin)	-	ARHGAP29	uc001dqj.4,p.S937L|NM_004815,p.S937L|ENST00000552844,p.S937L|uc001dqk.3,p.S503L|ENST00000260526,p.S937L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001dqk.3	nonsynonymous SNV	exon10	c.C1508T	p.S503L	SLFFSSKEDIHTSESESKIFERATS	SLFFSSKEDIHTLESESKIFERATS	3.0	2.0	unscreened	-	3713_1:94643263-94643263 G>A_SLFFSSKEDIHTLESESKIFERATS
15:42436667-42436667 C>T	0.0	3713	MELANOMA	-	-	-	-	PLA2G4F	uc010bcq.3,p.G5E	retained_intron, protein_coding, nonsense_mediated_decay	uc010bcq.3	nonsynonymous SNV	exon2	c.G14A	p.G5E	MWLAGSSWPGKVLKMTE	MWLAESSWPGKVLKMTE	1.0	1.0	unscreened	-	3713_15:42436667-42436667 C>T_MWLAESSWPGKVLKMTE
2:86697455-86697455 C>T	1.0	3713	MELANOMA	-	-	-	-	KDM3A	ENST00000441719,p.R550C|uc010ytj.2,p.R550C|NM_001146688,p.R550C|NM_018433,p.R550C|ENST00000542128,p.R498C|ENST00000409556,p.R550C|ENST00000409064,p.R550C|ENST00000312912,p.R550C|uc002sri.4,p.R550C|uc010ytk.2,p.R498C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ytk.2	nonsynonymous SNV	exon9	c.C1492T	p.R498C	NIVAQLPKCRECRLDSLRKDKEQQK	NIVAQLPKCRECCLDSLRKDKEQQK	7.0	8.0	-	-	3713_2:86697455-86697455 C>T_NIVAQLPKCRECCLDSLRKDKEQQK
2:56098174-56098174 C>T	1.0	3713	MELANOMA	-	-	ID=COSM1204981;OCCURENCE=1(skin),1(large_intestine)	-	EFEMP1	uc010ypc.2,p.R224Q|ENST00000394555,p.R362Q|NM_001039349,p.R362Q|ENST00000394554,p.R362Q|ENST00000424836,p.R224Q|NM_001039348,p.R362Q|uc002rzi.3,p.R362Q|uc002rzj.3,p.R362Q|ENST00000355426,p.R362Q	retained_intron, protein_coding, processed_transcript	uc010ypc.2	nonsynonymous SNV	exon7	c.G671A	p.R224Q	CWNYHGGFRCYPRNPCQDPYILTPE	CWNYHGGFRCYPQNPCQDPYILTPE	6.0	8.0	unscreened	-	3713_2:56098174-56098174 C>T_CWNYHGGFRCYPQNPCQDPYILTPE
1:61872307-61872307 C>T	0.0	3713	MELANOMA	-	-	-	-	NFIA	uc001czv.3,p.P443L|ENST00000371191,p.P466L|uc001czy.3,p.P435L|ENST00000407417,p.P435L|NM_005595,p.P443L|ENST00000371189,p.P488L|ENST00000357977,p.P91L|uc001czx.3,p.P91L|uc010oos.2,p.P488L|ENST00000371187,p.P443L|ENST00000371185,p.P421L|uc001czw.3,p.P443L|ENST00000403491,p.P443L|ENST00000371184,p.P314L|ENST00000485903,p.P400L|NM_001145512,p.P488L|NM_001145511,p.P435L|NM_001134673,p.P443L	protein_coding, processed_transcript	uc010oos.2	nonsynonymous SNV	exon10	c.C1463T	p.P488L	FLPTPMLPPPPPPPMARPVPLPVPD	FLPTPMLPPPPPLPMARPVPLPVPD	2.0	2.0	unscreened	-	3713_1:61872307-61872307 C>T_FLPTPMLPPPPPLPMARPVPLPVPD
3:81586139-81586139 G>A	1.0	3713	MELANOMA	0.0005	-	-	-	GBE1	uc021xax.1,p.R535C|ENST00000429644,p.R576C|ENST00000489715,p.R535C|uc021xav.1,p.R576C|NM_000158,p.R576C	retained_intron, protein_coding, processed_transcript	uc021xax.1	nonsynonymous SNV	exon13	c.C1603T	p.R535C	RRQFHLTDDDLLRYKFLNNFDRDMN	RRQFHLTDDDLLCYKFLNNFDRDMN	4.0	2.0	-	-	3713_3:81586139-81586139 G>A_RRQFHLTDDDLLCYKFLNNFDRDMN
4:25677947-25677947 C>T	0.0	3713	MELANOMA	-	-	-	1	SLC34A2	uc003grs.3,p.A549V|NM_001177999,p.A549V|NM_001177998,p.A549V|uc003grr.3,p.A550V|ENST00000504570,p.A549V|NM_006424,p.A550V|ENST00000503434,p.A549V|ENST00000382051,p.A550V|uc010iev.3,p.A549V	protein_coding, processed_transcript	uc010iev.3	nonsynonymous SNV	exon13	c.C1646T	p.A549V	FLIPLTVFGLSLAGWRVLVGVGVPV	FLIPLTVFGLSLVGWRVLVGVGVPV	4.0	5.0	unscreened	-	3713_4:25677947-25677947 C>T_FLIPLTVFGLSLVGWRVLVGVGVPV
2:218759766-218759766 G>A	0.0	3713	MELANOMA	-	-	-	-	TNS1	uc002vgr.2,p.S61F|ENST00000430930,p.S61F|ENST00000419504,p.S61F|NM_022648,p.S61F|ENST00000413554,p.S129F|uc010fvk.1,p.S186F|uc002vgs.2,p.S61F|uc002vgt.2,p.S61F|uc010fvj.1,p.S129F|ENST00000413280,p.S61F|uc002vgu.3,p.S92F|ENST00000446903,p.S186F|ENST00000171887,p.S61F|ENST00000310858,p.S92F|uc010zjv.1,p.S61F	retained_intron, protein_coding, processed_transcript	uc010zjv.1	nonsynonymous SNV	exon7	c.C182T	p.S61F	SKHGGNYLLFNLSERRPDITKLHAK	SKHGGNYLLFNLFERRPDITKLHAK	8.0	10.0	unscreened	-	3713_2:218759766-218759766 G>A_SKHGGNYLLFNLFERRPDITKLHAK
17:73736141-73736141 C>T	0.0	3713	MELANOMA	-	-	-	-	ITGB4	ENST00000339591,p.P812L|uc002jpj.3,p.P812L|uc010dgo.3,p.P812L|ENST00000579662,p.P812L|ENST00000450894,p.P812L|ENST00000449880,p.P812L|uc002jpg.3,p.P812L|NM_001005619,p.P812L|uc010dgp.1,p.P812L|NM_000213,p.P812L|NM_001005731,p.P812L|ENST00000200181,p.P812L|uc002jpi.4,p.P812L|uc002jph.3,p.P812L	retained_intron, protein_coding, processed_transcript	uc010dgp.1	nonsynonymous SNV	exon19	c.C2435T	p.P812L	RPGFATHAASINPTELVPYGLSLRL	RPGFATHAASINLTELVPYGLSLRL	1.0	1.0	unscreened	-	3713_17:73736141-73736141 C>T_RPGFATHAASINLTELVPYGLSLRL
1:75708654-75708654 C>T	0.0	3713	MELANOMA	-	-	-	-	SLC44A5	uc001dgt.2,p.E130K|uc010ora.2,p.E124K|uc001dgu.3,p.E130K|ENST00000370855,p.E130K|NM_152697,p.E130K|NM_001130058,p.E130K|ENST00000370859,p.E130K|uc001dgs.2,p.E88K|uc010oqz.1,p.E169K|uc001dgr.2,p.E88K	protein_coding, processed_transcript	uc010ora.2	nonsynonymous SNV	exon6	c.G370A	p.E124K	VSKCPEKFLTYVEMQLLYTKDKSYW	VSKCPEKFLTYVKMQLLYTKDKSYW	1.0	2.0	unscreened	-	3713_1:75708654-75708654 C>T_VSKCPEKFLTYVKMQLLYTKDKSYW
2:18764241-18764241 C>T	1.0	3713	MELANOMA	-	-	-	-	NT5C1B,NT5C1B-RDH14	NM_001199087,p.R382K|uc002rcy.3,p.R365K|uc010exs.3,p.R367K|NM_001199086,p.R348K|ENST00000304081,p.R305K|ENST00000359846,p.R365K|uc010yjv.2,p.R382K|uc002rcz.3,p.R365K|ENST00000600945,p.R365K|ENST00000444297,p.R307K|NM_001199088,p.R367K|uc010exr.3,p.R307K|NM_033253,p.R305K|NM_001002006,p.R365K|ENST00000532967,p.R365K|uc010yju.2,p.R305K|uc010yjw.2,p.R348K|NM_001199104,p.R365K|NM_001199103,p.R307K|uc002rda.3,p.R305K	retained_intron, processed_transcript,protein_coding, protein_coding, nonsense_mediated_decay	uc010yjw.2	nonsynonymous SNV	exon7	c.G1043A	p.R348K	FRFVKALQYVNARLRDLYPDEQDLF	FRFVKALQYVNAKLRDLYPDEQDLF	1.0	9.0	unscreened	-	3713_2:18764241-18764241 C>T_FRFVKALQYVNAKLRDLYPDEQDLF
3:191888351-191888351 C>T	0.0	3713	MELANOMA	-	-	-	-	FGF12	ENST00000454309,p.G170D|uc003fsy.3,p.G108D|ENST00000450716,p.G108D|NM_021032,p.G170D|ENST00000448795,p.G84D|uc003fsx.3,p.G170D|ENST00000440901,p.G65D|NM_004113,p.G108D|ENST00000430714,p.G71D|ENST00000264730,p.G108D|ENST00000445105,p.G108D	retained_intron, protein_coding, processed_transcript	uc003fsy.3	nonsynonymous SNV	exon5	c.G323A	p.G108D	IYSSTLYRQQESGRAWFLGLNKEGQ	IYSSTLYRQQESDRAWFLGLNKEGQ	1.0	9.0	unscreened	-	3713_3:191888351-191888351 C>T_IYSSTLYRQQESDRAWFLGLNKEGQ
4:59360-59360 C>T	0.0	3713	MELANOMA	-	-	-	-	ZNF595,ZNF718	NM_001039127,p.S14F	retained_intron, protein_coding, processed_transcript	NM_001039127	nonsynonymous SNV	exon2	c.C41T	p.S14F	ELLTFKDVAIEFSPEEWKCLDTSQQ	ELLTFKDVAIEFFPEEWKCLDTSQQ	1.0	1.0	unscreened	-	3713_4:59360-59360 C>T_ELLTFKDVAIEFFPEEWKCLDTSQQ
15:91795187-91795187 G>A	0.0	3713	MELANOMA	-	-	-	-	SV2B	ENST00000330276,p.G197E|ENST00000557410,p.G197E|uc002bqv.3,p.G197E|ENST00000394232,p.G197E|NM_001167580,p.G46E|uc002bqt.3,p.G197E|NM_014848,p.G197E|uc010uqv.2,p.G46E|ENST00000545111,p.G46E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uqv.2	nonsynonymous SNV	exon2	c.G137A	p.G46E	NASFASLSSFVQGYGAFLFCRLISG	NASFASLSSFVQEYGAFLFCRLISG	1.0	9.0	unscreened	-	3713_15:91795187-91795187 G>A_NASFASLSSFVQEYGAFLFCRLISG
11:124189418-124189418 G>A	0.0	3713	MELANOMA	-	-	-	-	OR8D2	NM_001002918,p.L226F|ENST00000357438,p.L226F|uc010sah.2,p.L226F	protein_coding	uc010sah.2	nonsynonymous SNV	exon1	c.C676T	p.L226F	VLISYAFIFSSILGIHSTEGQSKAF	VLISYAFIFSSIFGIHSTEGQSKAF	1.0	8.0	unscreened	-	3713_11:124189418-124189418 G>A_VLISYAFIFSSIFGIHSTEGQSKAF
5:82786075-82786075 G>A	0.0	3713	MELANOMA	-	-	-	-	VCAN	uc003kij.3,p.D77N|ENST00000513984,p.D77N|ENST00000342785,p.D77N|ENST00000265077,p.D77N|NM_001126336,p.D77N|NM_001164097,p.D77N|ENST00000513960,p.D77N|NM_004385,p.D77N|uc003kii.3,p.D77N|ENST00000343200,p.D77N|ENST00000512590,p.D29N|ENST00000502527,p.D77N|NM_001164098,p.D77N|uc003kih.4,p.D77N|uc003kik.3,p.D77N|uc010jau.2,p.D77N	retained_intron, protein_coding, processed_transcript	uc010jau.2	nonsynonymous SNV	exon3	c.G229A	p.D77N	KWSKIEVDKNGKDLKETTVLVAQNG	KWSKIEVDKNGKNLKETTVLVAQNG	7.0	7.0	unscreened	-	3713_5:82786075-82786075 G>A_KWSKIEVDKNGKNLKETTVLVAQNG
15:23811407-23811407 C>T	1.0	3713	MELANOMA	-	-	-	-	MKRN3	uc010ayi.1,p.P160S|NM_005664,p.P160S|ENST00000314520,p.P160S|uc001ywh.4,p.P160S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ayi.1	nonsynonymous SNV	exon1	c.C478T	p.P160S	HIEPPTQEVAEAPPAASSLSLPVIG	HIEPPTQEVAEASPAASSLSLPVIG	3.0	7.0	unscreened	-	3713_15:23811407-23811407 C>T_HIEPPTQEVAEASPAASSLSLPVIG
7:103048326-103048326 G>A	0.0	3713	MELANOMA	-	-	-	-	SLC26A5	ENST00000393729,p.P250L|ENST00000393735,p.P287L|ENST00000423416,p.P287L|ENST00000339444,p.P287L|uc003vbt.2,p.P287L|uc003vbx.3,p.P287L|ENST00000306312,p.P287L|ENST00000393730,p.P287L|ENST00000454864,p.P287L|ENST00000393727,p.P287L|NM_206885,p.P287L|uc003vbu.2,p.P287L|NM_001167962,p.P287L|ENST00000393723,p.P287L|ENST00000432958,p.P287L|NM_206884,p.P287L|uc003vbz.3,p.P287L|ENST00000356767,p.P287L|NM_198999,p.P287L|uc003vbv.2,p.P287L|NM_206883,p.P287L	retained_intron, protein_coding, nonsense_mediated_decay	uc003vbz.3	nonsynonymous SNV	exon8	c.C860T	p.P287L	GKEFNERFKEKLPAPIPLEFFAVVM	GKEFNERFKEKLLAPIPLEFFAVVM	1.0	9.0	unscreened	-	3713_7:103048326-103048326 G>A_GKEFNERFKEKLLAPIPLEFFAVVM
1:146418220-146418220 A>T	0.0	3713	MELANOMA	-	-	-	-	NBPF12	NM_001278141,p.R845W|uc021ovf.1,p.R303W|uc031poi.1,p.R845W|ENST00000442909,p.R845W|uc010ozl.3,p.R113W|ENST00000309471,p.R499W	protein_coding	uc031poi.1	nonsynonymous SNV	exon23	c.A2533T	p.R845W	DEGYSTLSIPPERLASYQSYSSTFH	DEGYSTLSIPPEWLASYQSYSSTFH	5.0	1.0	unscreened	-	3713_1:146418220-146418220 A>T_DEGYSTLSIPPEWLASYQSYSSTFH
11:58190574-58190574 T>G	0.0	3713	MELANOMA	-	-	-	-	OR5B2	uc010rkg.2,p.H54P|NM_001005566,p.H54P|ENST00000302581,p.H54P	protein_coding	uc010rkg.2	nonsynonymous SNV	exon1	c.A161C	p.H54P	GMMLLILMDSCLHTPMYFFLSNLSL	GMMLLILMDSCLPTPMYFFLSNLSL	1.0	10.0	unscreened	-	3713_11:58190574-58190574 T>G_GMMLLILMDSCLPTPMYFFLSNLSL
2:198540074-198540074 C>T	0.0	3713	MELANOMA	-	-	-	-	RFTN2	uc002uuo.4,p.E37K|ENST00000295049,p.E37K|NM_144629,p.E37K|ENST00000429081,p.E37K	retained_intron, protein_coding	uc002uuo.4	nonsynonymous SNV	exon1	c.G109A	p.E37K	RPQVETKTEFAYEYVLLDFTLQASS	RPQVETKTEFAYKYVLLDFTLQASS	1.0	5.0	unscreened	-	3713_2:198540074-198540074 C>T_RPQVETKTEFAYKYVLLDFTLQASS
7:31378864-31378864 C>T	0.0	3713	MELANOMA	-	-	-	-	NEUROD6	NM_022728,p.D7N|uc003tch.4,p.D7N|ENST00000297142,p.D7N|uc022abi.1,p.D7N	protein_coding	uc022abi.1	nonsynonymous SNV	exon1	c.G19A	p.D7N	MLTLPFDESVVMPESQMCR	MLTLPFNESVVMPESQMCR	1.0	6.0	unscreened	-	3713_7:31378864-31378864 C>T_MLTLPFNESVVMPESQMCR
11:76944165-76944165 A>G	0.0	3713	MELANOMA	-	-	-	-	GDPD4	ENST00000376217,p.W432R|NM_182833,p.W432R|ENST00000315938,p.W432R|uc001oyf.3,p.W432R	retained_intron, protein_coding, processed_transcript	uc001oyf.3	nonsynonymous SNV	exon13	c.T1294C	p.W432R	NIHINVYTVNEPWLFSLAWCSRINS	NIHINVYTVNEPRLFSLAWCSRINS	1.0	10.0	unscreened	-	3713_11:76944165-76944165 A>G_NIHINVYTVNEPRLFSLAWCSRINS
11:4976708-4976708 G>A	0.0	3713	MELANOMA	-	-	-	-	OR51A2	ENST00000380371,p.S79F|uc010qyt.2,p.S79F|NM_001004748,p.S79F	protein_coding	uc010qyt.2	nonsynonymous SNV	exon1	c.C236T	p.S79F	MLAMSDLGLSLSSLPTVLSIFLFNA	MLAMSDLGLSLSFLPTVLSIFLFNA	1.0	9.0	unscreened	-	3713_11:4976708-4976708 G>A_MLAMSDLGLSLSFLPTVLSIFLFNA
17:33749015-33749015 C>T	1.0	3713	MELANOMA	-	-	-	-	SLFN12	ENST00000452764,p.E345K|ENST00000304905,p.E345K|uc010cts.3,p.E345K|uc002hjj.4,p.E345K|NM_001289009,p.E345K|uc002hji.4,p.E345K|ENST00000394562,p.E345K|NM_018042,p.E345K	retained_intron, protein_coding, processed_transcript	uc010cts.3	nonsynonymous SNV	exon2	c.G1033A	p.E345K	TRKEWIQFMVEAEPKFSSSYEEVIS	TRKEWIQFMVEAKPKFSSSYEEVIS	5.0	10.0	-	-	3713_17:33749015-33749015 C>T_TRKEWIQFMVEAKPKFSSSYEEVIS
3:194842770-194842770 G>A	0.0	3713	MELANOMA	-	-	-	-	XXYLT1	ENST00000356740,p.S51F|uc003fuk.3,p.S51F	protein_coding, processed_transcript, nonsense_mediated_decay	uc003fuk.3	nonsynonymous SNV	exon1	c.C152T	p.S51F	QTQNQWARWSWTSQPLELHTFWQFR	QTQNQWARWSWTFQPLELHTFWQFR	5.0	4.0	unscreened	-	3713_3:194842770-194842770 G>A_QTQNQWARWSWTFQPLELHTFWQFR
3:9825875-9825875 C>T	1.0	3713	MELANOMA	-	-	-	-	TADA3	ENST00000343450,p.E315K|NM_133480,p.E315K|uc031ryh.1,p.E90K|uc010hcn.2,p.E315K|uc003bsy.4,p.E315K|ENST00000440161,p.E315K|uc003bsw.2,p.E144K|uc003bsx.2,p.E315K|NM_001278270,p.E315K|NM_006354,p.E315K|ENST00000301964,p.E315K	retained_intron, protein_coding, processed_transcript	uc031ryh.1	nonsynonymous SNV	exon6	c.G268A	p.E90K	NKPFSVPHTKSLESRIKEELIAQGL	NKPFSVPHTKSLKSRIKEELIAQGL	8.0	10.0	-	-	3713_3:9825875-9825875 C>T_NKPFSVPHTKSLKSRIKEELIAQGL
1:16377493-16377493 C>T	0.0	3713	MELANOMA	-	-	-	-	CLCNKB	uc001axx.5,p.H393Y|ENST00000375667,p.H224Y|uc001axy.5,p.H224Y|NM_000085,p.H393Y|NM_001165945,p.H224Y|ENST00000375679,p.H393Y	protein_coding	uc001axy.5	nonsynonymous SNV	exon5	c.C670T	p.H224Y	ELDPQHLWWEWYHPRFTIFGTLAFF	ELDPQHLWWEWYYPRFTIFGTLAFF	1.0	8.0	unscreened	-	3713_1:16377493-16377493 C>T_ELDPQHLWWEWYYPRFTIFGTLAFF
20:33875600-33875600 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1713392;OCCURENCE=1(skin)	-	FAM83C	NM_178468,p.A328T|uc021wck.1,p.A328T|ENST00000374408,p.A328T	protein_coding	uc021wck.1	nonsynonymous SNV	exon4	c.G982A	p.A328T	PLSPRALRPPPVALAFRPDVPSPTS	PLSPRALRPPPVTLAFRPDVPSPTS	1.0	1.0	unscreened	-	3713_20:33875600-33875600 C>T_PLSPRALRPPPVTLAFRPDVPSPTS
X:26157808-26157808 C>T	0.0	3713	MELANOMA	-	-	-	-	MAGEB18	uc004dbq.2,p.L236F|ENST00000325250,p.L236F|uc022bub.1,p.L236F|NM_173699,p.L236F	protein_coding	uc022bub.1	nonsynonymous SNV	exon1	c.C706T	p.L236F	NMMGVYADRKHFLYGDPRKVMTKDL	NMMGVYADRKHFFYGDPRKVMTKDL	1.0	7.0	unscreened	-	3713_X:26157808-26157808 C>T_NMMGVYADRKHFFYGDPRKVMTKDL
11:102565797-102565797 C>T	0.0	3713	MELANOMA	-	-	-	-	MMP27	uc001phd.1,p.D312N|NM_022122,p.D312N|ENST00000260229,p.D312N	protein_coding	uc001phd.1	nonsynonymous SNV	exon7	c.G934A	p.D312N	GRHLWRIYYDITDVEFELIASFWPS	GRHLWRIYYDITNVEFELIASFWPS	1.0	1.0	unscreened	-	3713_11:102565797-102565797 C>T_GRHLWRIYYDITNVEFELIASFWPS
19:11537357-11537357 G>A	1.0	3713	MELANOMA	-	-	-	-	CCDC151	ENST00000586836,p.S59F|NM_145045,p.S250F|uc002mrr.3,p.S185F|ENST00000545100,p.S196F|uc002mrs.3,p.S250F|ENST00000356392,p.S250F	retained_intron, protein_coding, nonsense_mediated_decay	uc002mrs.3	nonsynonymous SNV	exon6	c.C749T	p.S250F	MDESLNLENRLDSMEAEVVRTKHEL	MDESLNLENRLDFMEAEVVRTKHEL	1.0	4.0	unscreened	-	3713_19:11537357-11537357 G>A_MDESLNLENRLDFMEAEVVRTKHEL
19:11537357-11537357 G>A	1.0	3713	MELANOMA	-	-	-	-	CCDC151	ENST00000591179,p.S190F|uc010dxz.3,p.S190F	retained_intron, protein_coding, nonsense_mediated_decay	uc010dxz.3	nonsynonymous SNV	exon4	c.C569T	p.S190F	KDESLNLENRLDSMEAEVVRTKHEL	KDESLNLENRLDFMEAEVVRTKHEL	1.0	4.0	unscreened	-	3713_19:11537357-11537357 G>A_KDESLNLENRLDFMEAEVVRTKHEL
8:110516561-110516561 A>G	0.0	3713	MELANOMA	-	-	-	-	PKHD1L1	ENST00000378402,p.T3612A|NM_177531,p.T3612A|ENST00000526472,p.T540A|uc003yne.3,p.T3612A	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon68	c.A10834G	p.T3612A	NAISGLLDISGSTFVGFKNVCSGET	NAISGLLDISGSAFVGFKNVCSGET	1.0	10.0	unscreened	-	3713_8:110516561-110516561 A>G_NAISGLLDISGSAFVGFKNVCSGET
1:146418220-146418220 A>T	0.0	3713	MELANOMA	-	-	-	-	NBPF12	uc010ozk.2,p.K179N|ENST00000446760,p.K573N	protein_coding	uc010ozk.2	nonsynonymous SNV	exon23	c.A537T	p.K179N	GMKVIRLSQFLLKGHRWDQVKKEDQ	GMKVIRLSQFLLNGHRWDQVKKEDQ	5.0	1.0	unscreened	-	3713_1:146418220-146418220 A>T_GMKVIRLSQFLLNGHRWDQVKKEDQ
5:170308814-170308814 C>T	0.0	3713	MELANOMA	-	-	-	-	RANBP17	ENST00000519949,p.S57F|ENST00000523189,p.S57F|uc003mba.3,p.S57F|uc011dew.2,p.S57F|ENST00000519256,p.S57F|ENST00000522533,p.S57F|NM_022897,p.S57F|ENST00000389118,p.S57F|uc003maw.3,p.S57F|ENST00000522066,p.S57F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dew.2	nonsynonymous SNV	exon3	c.C170T	p.S57F	SKCQLLLEQGTTSYAQLLAATCLSK	SKCQLLLEQGTTFYAQLLAATCLSK	1.0	7.0	unscreened	-	3713_5:170308814-170308814 C>T_SKCQLLLEQGTTFYAQLLAATCLSK
4:59360-59360 C>T	0.0	3713	MELANOMA	-	-	-	-	ZNF595,ZNF718	uc010iay.2,p.S14F|uc003fzv.1,p.S14F|ENST00000509152,p.S14F|ENST00000526473,p.S14F	retained_intron, protein_coding, processed_transcript	uc010iay.2	nonsynonymous SNV	exon2	c.C41T	p.S14F	ELVTFRDVAIEFSPEEWKCLDPAQQ	ELVTFRDVAIEFFPEEWKCLDPAQQ	1.0	1.0	unscreened	-	3713_4:59360-59360 C>T_ELVTFRDVAIEFFPEEWKCLDPAQQ
3:111664188-111664188 C>T	1.0	3713	MELANOMA	-	-	-	-	PHLDB2	ENST00000495180,p.P410L|uc003dyi.3,p.P410L	retained_intron, protein_coding, processed_transcript	uc003dyi.3	nonsynonymous SNV	exon8	c.C1229T	p.P410L	SSLSGGKGFPVNPNTLKEAHLPLGQ	SSLSGGKGFPVNLNTLKEAHLPLGQ	2.0	2.0	unscreened	-	3713_3:111664188-111664188 C>T_SSLSGGKGFPVNLNTLKEAHLPLGQ
5:140731509-140731509 C>T	1.0	3713	MELANOMA	-	-	-	-	PCDHGB1	uc003ljo.2,p.P561L|uc011daq.2,p.P561L|NM_032095,p.P561L|ENST00000523390,p.P561L|NM_018922,p.P561L	protein_coding	uc011daq.2	nonsynonymous SNV	exon1	c.C1682T	p.P561L	GDLNDNAPRVLYPALGPDGSALFDM	GDLNDNAPRVLYLALGPDGSALFDM	3.0	9.0	unscreened	-	3713_5:140731509-140731509 C>T_GDLNDNAPRVLYLALGPDGSALFDM
17:12887871-12887871 C>T	0.0	3713	MELANOMA	-	-	-	-	ARHGAP44	uc010vvl.2,p.P649S|uc002gnr.4,p.P655S|ENST00000262444,p.P655S|NM_014859,p.P655S|uc002gns.4,p.P449S|ENST00000340825,p.P649S|uc010vvk.2,p.P655S|ENST00000379672,p.P655S|uc010vvm.2,p.P649S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, lincRNA	uc010vvm.2	nonsynonymous SNV	exon19	c.C1945T	p.P649S	TLRKVSKKLAPIPPKVPFGQPGAMA	TLRKVSKKLAPISPKVPFGQPGAMA	1.0	10.0	unscreened	-	3713_17:12887871-12887871 C>T_TLRKVSKKLAPISPKVPFGQPGAMA
14:70924688-70924688 G>A	0.0	3713	MELANOMA	-	-	-	-	ADAM21	uc021rvq.1,p.V158I|uc001xmd.3,p.V158I|NM_003813,p.V158I|ENST00000267499,p.V158I|ENST00000603540,p.V158I	protein_coding	uc021rvq.1	nonsynonymous SNV	exon1	c.G472A	p.V158I	EPIRHSATFEHLVYKINSNETQFPA	EPIRHSATFEHLIYKINSNETQFPA	1.0	10.0	unscreened	-	3713_14:70924688-70924688 G>A_EPIRHSATFEHLIYKINSNETQFPA
22:18028326-18028326 C>T	0.0	3713	MELANOMA	-	-	-	-	CECR2	uc010gqv.1,p.P953S|NM_001290046,p.P953S|uc002zml.2,p.P954S|ENST00000262608,p.P1096S|ENST00000400585,p.P953S|ENST00000400573,p.P1095S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010gqv.1	nonsynonymous SNV	exon17	c.C2857T	p.P953S	DPGLTGGTVSQFPPLYMPGLEYPNS	DPGLTGGTVSQFSPLYMPGLEYPNS	2.0	1.0	unscreened	-	3713_22:18028326-18028326 C>T_DPGLTGGTVSQFSPLYMPGLEYPNS
X:150773180-150773180 G>A	0.0	3713	MELANOMA	-	-	-	-	PASD1	ENST00000370357,p.D31N|NM_173493,p.D31N|uc004fev.4,p.D31N	retained_intron, protein_coding	uc004fev.4	nonsynonymous SNV	exon3	c.G91A	p.D31N	RKLNWIPSFPTYDYFNQVTLQLLDG	RKLNWIPSFPTYNYFNQVTLQLLDG	1.0	7.0	unscreened	-	3713_X:150773180-150773180 G>A_RKLNWIPSFPTYNYFNQVTLQLLDG
10:26849693-26849693 C>T	0.0	3713	MELANOMA	-	-	-	-	APBB1IP	uc001iss.3,p.A430V|NM_019043,p.A430V|ENST00000376236,p.A430V	protein_coding, processed_transcript, nonsense_mediated_decay	uc001iss.3	nonsynonymous SNV	exon13	c.C1289T	p.A430V	KYGKTLYDNYQRAVAKAGLASRWTN	KYGKTLYDNYQRVVAKAGLASRWTN	5.0	6.0	unscreened	-	3713_10:26849693-26849693 C>T_KYGKTLYDNYQRVVAKAGLASRWTN
4:175897802-175897802 G>A	0.0	3713	MELANOMA	-	-	-	-	ADAM29	ENST00000445694,p.E376K|uc011cki.2,p.E376K|NM_001130705,p.E376K|NM_001130704,p.E376K|NM_001130703,p.E376K|NM_001278125,p.E376K|uc010irr.3,p.E376K|uc021xuo.1,p.E376K|ENST00000404450,p.E376K|NM_014269,p.E376K|ENST00000359240,p.E376K|uc003iud.3,p.E376K|NM_001278126,p.E376K|ENST00000514159,p.E376K|NM_001278127,p.E376K|uc003iuc.3,p.E376K|uc031shw.1,p.E376K|uc031shu.1,p.E376K|uc031shv.1,p.E376K	retained_intron, protein_coding, processed_transcript	uc031shw.1	nonsynonymous SNV	exon2	c.G1126A	p.E376K	TKFSNCSYGDFWEYTVERTKCLLET	TKFSNCSYGDFWKYTVERTKCLLET	1.0	4.0	unscreened	-	3713_4:175897802-175897802 G>A_TKFSNCSYGDFWKYTVERTKCLLET
5:9630012-9630012 C>T	0.0	3713	MELANOMA	-	-	-	-	TAS2R1	uc003jem.1,p.D45N|NM_019599,p.D45N|ENST00000382492,p.D45N	protein_coding	uc003jem.1	nonsynonymous SNV	exon1	c.G133A	p.D45N	IDLIKHRKMAPLDLLLSCLAVSRIF	IDLIKHRKMAPLNLLLSCLAVSRIF	1.0	4.0	unscreened	-	3713_5:9630012-9630012 C>T_IDLIKHRKMAPLNLLLSCLAVSRIF
1:144882501-144882501 A>C	1.0	3713	MELANOMA	-	-	-	1	PDE4DIP	ENST00000530740,p.F1310C|NM_001198834,p.F1173C|ENST00000369356,p.F1173C|ENST00000369354,p.F1173C|uc001elv.4,p.F180C|uc001elw.4,p.F1173C|ENST00000369359,p.F1310C|uc021ouh.1,p.F1173C|NM_014644,p.F1173C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ouh.1	nonsynonymous SNV	exon24	c.T3518G	p.F1173C	QHQEEGNVTVRPFPRPQSLDLGATF	QHQEEGNVTVRPCPRPQSLDLGATF	10.0	2.0	unscreened	-	3713_1:144882501-144882501 A>C_QHQEEGNVTVRPCPRPQSLDLGATF
16:28950014-28950014 G>A	0.0	3713	MELANOMA	-	-	-	-	CD19	NM_001178098,p.D503N|uc010byo.2,p.D503N|ENST00000567541,p.D503N|ENST00000538922,p.D503N	retained_intron, protein_coding	uc010byo.2	nonsynonymous SNV	exon13	c.G1507A	p.D503N	EATSLAGSQSYEDMRGILYAAPQLR	EATSLAGSQSYENMRGILYAAPQLR	4.0	1.0	unscreened	-	3713_16:28950014-28950014 G>A_EATSLAGSQSYENMRGILYAAPQLR
16:28950014-28950014 G>A	0.0	3713	MELANOMA	-	-	-	-	CD19	uc002drs.3,p.D502N|ENST00000324662,p.D502N|NM_001770,p.D502N	retained_intron, protein_coding	uc002drs.3	nonsynonymous SNV	exon13	c.G1504A	p.D502N	REATSLGSQSYEDMRGILYAAPQLR	REATSLGSQSYENMRGILYAAPQLR	4.0	1.0	unscreened	-	3713_16:28950014-28950014 G>A_REATSLGSQSYENMRGILYAAPQLR
3:13461573-13461573 C>A	0.0	3713	MELANOMA	-	-	-	-	NUP210	uc003bxv.1,p.G52C|NM_024923,p.G52C|ENST00000254508,p.G52C	retained_intron, protein_coding, processed_transcript	uc003bxv.1	nonsynonymous SNV	exon1	c.G154T	p.G52C	ATRVNFTLEASEGCYRWLSTRPEVA	ATRVNFTLEASECCYRWLSTRPEVA	3.0	8.0	unscreened	-	3713_3:13461573-13461573 C>A_ATRVNFTLEASECCYRWLSTRPEVA
3:38805023-38805023 C>T	0.0	3713	MELANOMA	-	-	-	-	SCN10A	NM_001293307,p.A222T|NM_006514,p.A222T|ENST00000449082,p.A222T|NM_001293306,p.A222T|uc003ciq.3,p.A222T	protein_coding	uc003ciq.3	nonsynonymous SNV	exon5	c.G664A	p.A222T	GISGLRTFRVLRALKTVSVIPGLKV	GISGLRTFRVLRTLKTVSVIPGLKV	1.0	8.0	unscreened	-	3713_3:38805023-38805023 C>T_GISGLRTFRVLRTLKTVSVIPGLKV
11:27679565-27679565 C>G	1.0	3713	MELANOMA	-	-	-	-	BDNF	NM_170731,p.E191Q|ENST00000395981,p.E183Q|uc009yjd.3,p.E183Q|uc001mru.3,p.E183Q|NM_001143811,p.E183Q|uc001msa.3,p.E191Q|NM_170734,p.E198Q|ENST00000533246,p.E183Q|NM_170733,p.E183Q|ENST00000395978,p.E183Q|uc001mrw.4,p.E183Q|NM_001143812,p.E183Q|ENST00000395980,p.E183Q|uc010rdw.2,p.E183Q|ENST00000530861,p.E183Q|ENST00000314915,p.E191Q|ENST00000439476,p.E183Q|uc009yje.3,p.E265Q|NM_001143816,p.E183Q|uc001mry.4,p.E183Q|ENST00000420794,p.E183Q|uc001mrx.3,p.E183Q|NM_001143814,p.E183Q|NM_001143813,p.E183Q|NM_001143809,p.E212Q|ENST00000525528,p.E183Q|uc001mrt.3,p.E198Q|uc009yjf.3,p.E212Q|ENST00000525950,p.E183Q|ENST00000418212,p.E183Q|NM_001143805,p.E183Q|ENST00000395983,p.E183Q|uc021qff.1,p.E183Q|ENST00000356660,p.E183Q|uc001mrv.3,p.E183Q|NM_001143806,p.E183Q|uc001mrz.4,p.E183Q|NM_170732,p.E183Q|ENST00000533131,p.E183Q|uc010rdu.2,p.E183Q|uc010rdx.2,p.E183Q|NM_001709,p.E183Q|uc010rdy.2,p.E183Q|ENST00000532997,p.E183Q|NM_001143808,p.E183Q|NM_001143810,p.E265Q|ENST00000395986,p.E198Q|uc009yjg.3,p.E183Q|ENST00000438929,p.E265Q|NM_170735,p.E183Q|NM_001143807,p.E183Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc021qff.1	nonsynonymous SNV	exon1	c.G547C	p.E183Q	PVSKGQLKQYFYETKCNPMGYTKEG	PVSKGQLKQYFYQTKCNPMGYTKEG	1.0	7.0	-	-	3713_11:27679565-27679565 C>G_PVSKGQLKQYFYQTKCNPMGYTKEG
1:67438613-67438613 G>A	1.0	3713	MELANOMA	-	-	-	-	MIER1	uc001ddh.2,p.R231K|NM_001146113,p.R231K|NM_020948,p.R311K|ENST00000371016,p.R311K|uc001ddj.1,p.R294K|uc001ddf.2,p.R311K|uc001ddg.2,p.R267K|uc010opg.1,p.R311K|uc001ddc.2,p.R347K|uc010opf.1,p.R311K|ENST00000371018,p.R311K|NM_001077700,p.R347K|uc001dde.2,p.R347K|NM_001146110,p.R311K|NM_001146111,p.R311K|ENST00000355977,p.R231K|ENST00000371014,p.R347K|NM_001077701,p.R294K|ENST00000401042,p.R294K|NM_001146112,p.R267K|NM_001077703,p.R347K|uc001ddi.2,p.R294K|NM_001077702,p.R311K|ENST00000355356,p.R294K|uc009way.2,p.R311K|NM_001077704,p.R294K|ENST00000401041,p.R347K|ENST00000357692,p.R311K	protein_coding, processed_transcript	uc010opg.1	nonsynonymous SNV	exon12	c.G932A	p.R311K	REELSVWTEEECRNFEQGLKAYGKD	REELSVWTEEECKNFEQGLKAYGKD	7.0	4.0	-	-	3713_1:67438613-67438613 G>A_REELSVWTEEECKNFEQGLKAYGKD
11:63884605-63884605 C>A	1.0	3713	MELANOMA	-	-	-	-	FLRT1	ENST00000246841,p.T289K|NM_013280,p.T289K|uc021qks.1,p.T289K|uc001nyi.1,p.T289K	protein_coding	uc021qks.1	nonsynonymous SNV	exon1	c.C866A	p.T289K	LQDNAISHIPYNTLAKMRELERLDL	LQDNAISHIPYNKLAKMRELERLDL	1.0	10.0	unscreened	-	3713_11:63884605-63884605 C>A_LQDNAISHIPYNKLAKMRELERLDL
6:7584645-7584645 C>T	0.0	3713	MELANOMA	-	-	-	-	DSP	ENST00000379802,p.H2384Y|ENST00000418664,p.H1785Y|uc003mxq.1,p.H1785Y|uc021yle.1,p.H1941Y|NM_001008844,p.H1785Y|NM_004415,p.H2384Y|uc003mxp.1,p.H2384Y	retained_intron, protein_coding	uc021yle.1	nonsynonymous SNV	exon24	c.C5821T	p.H1941Y	IATGGIIDPKESHRLPVDIAYKRGY	IATGGIIDPKESYRLPVDIAYKRGY	1.0	1.0	unscreened	-	3713_6:7584645-7584645 C>T_IATGGIIDPKESYRLPVDIAYKRGY
2:179611351-179611351 T>C	0.0	3713	MELANOMA	-	-	-	-	TTN	uc002unb.3,p.N5259S|ENST00000360870,p.N5259S|NM_133379,p.N5259S	retained_intron, protein_coding	uc002unb.3	nonsynonymous SNV	exon46	c.A15776G	p.N5259S	KGEGGEYMCHAVNIIGEAKSFANVD	KGEGGEYMCHAVSIIGEAKSFANVD	1.0	8.0	unscreened	-	3713_2:179611351-179611351 T>C_KGEGGEYMCHAVSIIGEAKSFANVD
9:36171034-36171034 C>T	0.0	3713	MELANOMA	-	-	-	-	CCIN	ENST00000335119,p.P512L|NM_005893,p.P512L|uc003zzb.4,p.P512L	protein_coding	uc003zzb.4	nonsynonymous SNV	exon1	c.C1535T	p.P512L	TTTSVPVLPNSCPLDVSHAICSIGD	TTTSVPVLPNSCLLDVSHAICSIGD	1.0	7.0	unscreened	-	3713_9:36171034-36171034 C>T_TTTSVPVLPNSCLLDVSHAICSIGD
6:160176585-160176585 C>T	1.0	3713	MELANOMA	-	-	-	-	WTAP	NM_001270531,p.S378F|uc003qso.4,p.S259F|ENST00000358372,p.S378F|uc031sqv.1,p.S378F|uc003qsl.4,p.S378F|NM_004906,p.S378F	protein_coding, processed_transcript	uc031sqv.1	nonsynonymous SNV	exon8	c.C1133T	p.S378F	KAVSGKGNRTVGSRHVQNGLDSSVN	KAVSGKGNRTVGFRHVQNGLDSSVN	8.0	7.0	-	-	3713_6:160176585-160176585 C>T_KAVSGKGNRTVGFRHVQNGLDSSVN
3:164767663-164767663 C>T	0.0	3713	MELANOMA	-	-	-	-	SI	ENST00000264382,p.D505N|NM_001041,p.D505N|uc003fei.3,p.D505N	retained_intron, protein_coding, nonsense_mediated_decay	uc003fei.3	nonsynonymous SNV	exon14	c.G1513A	p.D505N	FHQEVQYDGLWIDMNEVSSFIQGST	FHQEVQYDGLWINMNEVSSFIQGST	1.0	2.0	unscreened	-	3713_3:164767663-164767663 C>T_FHQEVQYDGLWINMNEVSSFIQGST
12:101731902-101731902 C>T	1.0	3713	MELANOMA	-	-	-	-	UTP20	NM_014503,p.L1239F|uc001tia.1,p.L1239F|ENST00000261637,p.L1239F	retained_intron, protein_coding	uc001tia.1	nonsynonymous SNV	exon30	c.C3715T	p.L1239F	PECDILTNVFAILSAKNLSDATASI	PECDILTNVFAIFSAKNLSDATASI	3.0	5.0	-	-	3713_12:101731902-101731902 C>T_PECDILTNVFAIFSAKNLSDATASI
17:76128447-76128447 C>T	0.0	3713	MELANOMA	0.0	-	-	-	TMC8	uc010dhh.1,p.R164W|ENST00000590799,p.R164W	retained_intron, protein_coding, processed_transcript	uc010dhh.1	nonsynonymous SNV	exon4	c.C490T	p.R164W	QTSGPRSTPRPLRHRNSVLLHLPPL	QTSGPRSTPRPLWHRNSVLLHLPPL	7.0	1.0	unscreened	-	3713_17:76128447-76128447 C>T_QTSGPRSTPRPLWHRNSVLLHLPPL
19:43372238-43372238 C>T	1.0	3713	MELANOMA	-	-	-	-	PSG1	NM_006905,p.A420T|ENST00000244296,p.A420T|uc002ovd.1,p.A420T	retained_intron, protein_coding, processed_transcript	uc002ovd.1	nonsynonymous SNV	exon5	c.G1258A	p.A420T	SMTVEVSGKWIPASLAIGF	SMTVEVSGKWIPTSLAIGF	1.0	10.0	-	-	3713_19:43372238-43372238 C>T_SMTVEVSGKWIPTSLAIGF
2:228855759-228855759 G>A	0.0	3713	MELANOMA	-	-	-	-	SPHKAP	NM_030623,p.P1610L|ENST00000392056,p.P1639L|NM_001142644,p.P1639L|uc002vpp.2,p.P1610L|uc002vpq.2,p.P1639L|ENST00000344657,p.P1610L	retained_intron, protein_coding	uc002vpq.2	nonsynonymous SNV	exon11	c.C4916T	p.P1639L	TLQWIAASELGIPTIYFKKSQENRI	TLQWIAASELGILTIYFKKSQENRI	1.0	4.0	unscreened	-	3713_2:228855759-228855759 G>A_TLQWIAASELGILTIYFKKSQENRI
2:110883254-110883254 G>A	1.0	3713	MELANOMA	-	-	ID=COSM1217697;OCCURENCE=1(lung),1(large_intestine)	-	NPHP1	uc002tfo.4,p.S511L|uc002tfl.4,p.S630L|NM_001128179,p.S511L|ENST00000417665,p.S573L|ENST00000316534,p.S630L|NM_001128178,p.S574L|uc002tfn.4,p.S629L|uc002tfm.4,p.S574L|NM_000272,p.S630L|uc010fjv.1,p.S573L|ENST00000393272,p.S629L|ENST00000355301,p.S511L|NM_207181,p.S629L|uc010ywx.2,p.S573L|ENST00000445609,p.S574L	retained_intron, protein_coding, nonsense_mediated_decay	uc010ywx.2	nonsynonymous SNV	exon19	c.C1718T	p.S573L	LEQPDVMDALRSSWAGKESTLKRSE	LEQPDVMDALRSLWAGKESTLKRSE	3.0	8.0	unscreened	-	3713_2:110883254-110883254 G>A_LEQPDVMDALRSLWAGKESTLKRSE
7:40277285-40277285 C>T	1.0	3713	MELANOMA	-	-	-	-	SUGCT	ENST00000309930,p.A186V|NM_001193312,p.A186V|NM_001193311,p.A186V|ENST00000401647,p.A186V|NM_001193313,p.A186V|ENST00000335693,p.A186V|NM_024728,p.A149V|uc003thn.2,p.A186V|uc022acd.1,p.A186V|uc003tho.2,p.A186V	protein_coding, processed_transcript, nonsense_mediated_decay	uc022acd.1	nonsynonymous SNV	exon7	c.C557T	p.A186V	GPISQRAGYDAVASAVSGLMHITGP	GPISQRAGYDAVVSAVSGLMHITGP	5.0	1.0	unscreened	-	3713_7:40277285-40277285 C>T_GPISQRAGYDAVVSAVSGLMHITGP
6:90604224-90604224 G>A	0.0	3713	MELANOMA	-	-	-	-	GJA10	NM_032602,p.E13K|ENST00000369352,p.E13K|uc011eaa.2,p.E13K	protein_coding	uc011eaa.2	nonsynonymous SNV	exon1	c.G37A	p.E13K	MGDWNLLGGILEEVHSHSTIVGKIW	MGDWNLLGGILEKVHSHSTIVGKIW	1.0	6.0	unscreened	-	3713_6:90604224-90604224 G>A_MGDWNLLGGILEKVHSHSTIVGKIW
13:25671847-25671847 C>T	0.0	3713	MELANOMA	-	-	-	-	PABPC3	uc001upy.3,p.P504L|ENST00000281589,p.P504L|NM_030979,p.P504L	protein_coding	uc001upy.3	nonsynonymous SNV	exon1	c.C1511T	p.P504L	AAAAATPAVRTVPRYKYAAGVRNPQ	AAAAATPAVRTVLRYKYAAGVRNPQ	7.0	3.0	unscreened	-	3713_13:25671847-25671847 C>T_AAAAATPAVRTVLRYKYAAGVRNPQ
3:49932751-49932751 G>A	0.0	3713	MELANOMA	-	-	-	-	MST1R	ENST00000411578,p.S1014F	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000411578	nonsynonymous SNV	exon13	c.C3041T	p.S1014F	VWIPPLVSMEHPSPIVKMNPVCHCC	VWIPPLVSMEHPFPIVKMNPVCHCC	3.0	8.0	unscreened	-	3713_3:49932751-49932751 G>A_VWIPPLVSMEHPFPIVKMNPVCHCC
2:171264318-171264318 C>T	0.0	3713	MELANOMA	-	-	-	-	MYO3B	uc002ufv.4,p.L872F|ENST00000484338,p.L881F|ENST00000408978,p.L872F|uc002ufz.3,p.L872F|uc002ufy.3,p.L872F|NM_138995,p.L872F|ENST00000409044,p.L872F|ENST00000334231,p.L881F|ENST00000317935,p.L872F|NM_001083615,p.L872F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ufz.3	nonsynonymous SNV	exon22	c.C2614T	p.L872F	VVVVLRTSENKLLQQLFSIPLTKTG	VVVVLRTSENKLFQQLFSIPLTKTG	1.0	4.0	unscreened	-	3713_2:171264318-171264318 C>T_VVVVLRTSENKLFQQLFSIPLTKTG
2:27529175-27529175 G>A	1.0	3713	MELANOMA	-	-	-	-	TRIM54	uc002rjn.3,p.E363K|ENST00000296098,p.E363K|ENST00000380075,p.E321K|NM_032546,p.E363K|uc002rjo.3,p.E321K|NM_187841,p.E321K	retained_intron, protein_coding	uc002rjo.3	nonsynonymous SNV	exon7	c.G961A	p.E321K	MEQFTVRVEHVAEMLRTIDFQPGAS	MEQFTVRVEHVAKMLRTIDFQPGAS	1.0	10.0	unscreened	-	3713_2:27529175-27529175 G>A_MEQFTVRVEHVAKMLRTIDFQPGAS
19:44130381-44130381 G>A	1.0	3713	MELANOMA	-	-	-	-	CADM4	uc002oxc.1,p.R187C|ENST00000222374,p.R187C|NM_145296,p.R187C	protein_coding, processed_transcript	uc002oxc.1	nonsynonymous SNV	exon5	c.C559T	p.R187C	GKVWSVASTVRFRVDRKDDGGIIIC	GKVWSVASTVRFCVDRKDDGGIIIC	2.0	10.0	-	-	3713_19:44130381-44130381 G>A_GKVWSVASTVRFCVDRKDDGGIIIC
10:92508612-92508612 T>C	1.0	3713	MELANOMA	-	-	-	-	HTR7	NM_019859,p.R427G|uc001kha.3,p.R427G|ENST00000336152,p.R427G	protein_coding	uc001kha.3	nonsynonymous SNV	exon2	c.A1279G	p.R427G	MHEALKLAERPERPEFVLRACTRRV	MHEALKLAERPEGPEFVLRACTRRV	2.0	7.0	-	-	3713_10:92508612-92508612 T>C_MHEALKLAERPEGPEFVLRACTRRV
1:223400942-223400942 G>A	0.0	3713	MELANOMA	-	-	-	-	SUSD4	uc001hny.4,p.P352L|NM_017982,p.P352L|uc010puw.2,p.P192L|ENST00000366878,p.P352L|ENST00000454695,p.P192L|ENST00000343846,p.P352L|uc001hnx.3,p.P352L	protein_coding, processed_transcript	uc010puw.2	nonsynonymous SNV	exon8	c.C575T	p.P192L	ARMFQTKFKAHFPPRGPPRSSSSDP	ARMFQTKFKAHFLPRGPPRSSSSDP	1.0	8.0	unscreened	-	3713_1:223400942-223400942 G>A_ARMFQTKFKAHFLPRGPPRSSSSDP
21:43962524-43962524 G>A	0.0	3713	MELANOMA	-	-	-	-	SLC37A1	ENST00000352133,p.G166E|ENST00000398341,p.G166E|NM_018964,p.G166E|uc002zbj.3,p.G166E|uc002zbi.3,p.G166E	retained_intron, protein_coding, processed_transcript	uc002zbj.3	nonsynonymous SNV	exon7	c.G497A	p.G166E	SFGFYVVTQVINGLVQTTGWPSVVT	SFGFYVVTQVINELVQTTGWPSVVT	3.0	5.0	unscreened	-	3713_21:43962524-43962524 G>A_SFGFYVVTQVINELVQTTGWPSVVT
8:6874236-6874236 G>A	0.0	3713	MELANOMA	-	-	-	-	DEFA1,DEFA1B,DEFA3	ENST00000327857,p.S46F|NM_005217,p.S46F|NM_001042500,p.S46F|uc003wqz.1,p.S46F|NM_004084,p.S46F	protein_coding	uc003wqz.1	nonsynonymous SNV	exon2	c.C137T	p.S46F	EQIAADIPEVVVSLAWDESLAPKHP	EQIAADIPEVVVFLAWDESLAPKHP	1.0	1.0	unscreened	-	3713_8:6874236-6874236 G>A_EQIAADIPEVVVFLAWDESLAPKHP
3:19975432-19975432 G>A	0.0	3713	MELANOMA	-	-	-	-	EFHB	uc003cbl.4,p.P27S|NM_144715,p.P27S|ENST00000389256,p.P27S|ENST00000295824,p.P27S	protein_coding, processed_transcript	uc003cbl.4	nonsynonymous SNV	exon1	c.C79T	p.P27S	LGDKRVIMGTKFPMELGIRVGLGKE	LGDKRVIMGTKFSMELGIRVGLGKE	2.0	9.0	unscreened	-	3713_3:19975432-19975432 G>A_LGDKRVIMGTKFSMELGIRVGLGKE
4:70455251-70455251 G>A	0.0	3713	MELANOMA	-	-	-	-	UGT2A1,UGT2A2	ENST00000457664,p.R484W|uc011caq.2,p.R641W|uc021xox.1,p.R440W|uc010ihs.3,p.R484W|NM_001301239,p.R431W|NM_001252274,p.R641W|uc003hem.4,p.R475W|NM_001301233,p.R440W|NM_006798,p.R475W|uc010ihu.3,p.R475W|ENST00000286604,p.R475W|NM_001105677,p.R484W|NM_001252275,p.R475W|ENST00000512704,p.R431W|ENST00000503640,p.R475W|ENST00000514019,p.R641W|uc010iht.3,p.R431W	 processed_transcript,retained_intron, protein_coding	uc021xox.1	nonsynonymous SNV	exon5	c.C1318T	p.R440W	EFVMRHKGAKHLRVAAHDLTWFQYH	EFVMRHKGAKHLWVAAHDLTWFQYH	1.0	9.0	unscreened	-	3713_4:70455251-70455251 G>A_EFVMRHKGAKHLWVAAHDLTWFQYH
3:178984479-178984479 G>A	0.0	3713	MELANOMA	-	-	-	-	KCNMB3	uc011bqc.1,p.P7L|NM_001163677,p.P7L|NM_171828,p.P7L|ENST00000349697,p.P7L|ENST00000497599,p.P7L|uc003fjp.1,p.P7L	protein_coding, processed_transcript, nonsense_mediated_decay	uc011bqc.1	nonsynonymous SNV	exon1	c.C20T	p.P7L	MQPFSIPVQITLQGSRRRQ	MQPFSILVQITLQGSRRRQ	1.0	1.0	unscreened	-	3713_3:178984479-178984479 G>A_MQPFSILVQITLQGSRRRQ
12:75601249-75601249 G>A	0.0	3713	MELANOMA	-	-	-	-	KCNC2	uc009zry.4,p.P172L|NM_001260498,p.P172L|ENST00000298972,p.P172L|NM_139137,p.P172L|NM_139136,p.P172L|NM_001260499,p.P172L|ENST00000341669,p.P172L|uc001sxg.2,p.P172L|uc031qif.1,p.P172L|ENST00000550433,p.P172L|uc001sxe.4,p.P172L|NM_001260497,p.P172L|NM_153748,p.P172L|ENST00000549446,p.P172L|ENST00000540018,p.P172L|ENST00000548513,p.P172L|uc010stw.2,p.P172L|ENST00000350228,p.P172L|ENST00000393288,p.P172L|uc001sxf.4,p.P172L	protein_coding, processed_transcript	uc031qif.1	nonsynonymous SNV	exon2	c.C515T	p.P172L	RDAEEALDIFETPDLIGGDPGDDED	RDAEEALDIFETLDLIGGDPGDDED	1.0	1.0	unscreened	-	3713_12:75601249-75601249 G>A_RDAEEALDIFETLDLIGGDPGDDED
14:55423840-55423840 G>A	1.0	3713	MELANOMA	-	-	-	-	WDHD1	ENST00000420358,p.S820F|ENST00000359167,p.S461F|ENST00000421192,p.S820F|NM_001008396,p.S820F|uc001xbn.2,p.S820F|ENST00000360586,p.S943F|uc001xbm.2,p.S943F|NM_007086,p.S943F|uc010aom.2,p.S460F	retained_intron, protein_coding, nonsense_mediated_decay	uc010aom.2	nonsynonymous SNV	exon11	c.C1379T	p.S460F	RSTNILDNMGKSSKKSTALSRTTNN	RSTNILDNMGKSFKKSTALSRTTNN	5.0	4.0	-	-	3713_14:55423840-55423840 G>A_RSTNILDNMGKSFKKSTALSRTTNN
4:69962806-69962806 C>T	0.0	3713	MELANOMA	-	-	-	-	UGT2B7	NM_001074,p.P190S|uc003heg.4,p.P190S|uc010ihq.3,p.P190S|ENST00000305231,p.P190S|ENST00000508661,p.P190S	protein_coding, processed_transcript	uc010ihq.3	nonsynonymous SNV	exon1	c.C568T	p.P190S	YTFEKHSGGFIFPPSYVPVVMSELT	YTFEKHSGGFIFSPSYVPVVMSELT	1.0	10.0	unscreened	-	3713_4:69962806-69962806 C>T_YTFEKHSGGFIFSPSYVPVVMSELT
12:60168456-60168456 A>G	0.0	3713	MELANOMA	-	-	-	-	SLC16A7	ENST00000548610,p.N127S|uc001sqs.4,p.N127S|ENST00000547379,p.N127S|ENST00000543448,p.N28S|uc010ssi.3,p.N28S|ENST00000261187,p.N127S|uc001sqt.4,p.N127S|ENST00000552432,p.N127S|NM_004731,p.N127S|ENST00000552024,p.N127S|uc009zqi.4,p.N28S|NM_001270622,p.N127S|NM_001270623,p.N127S|uc001squ.4,p.N127S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ssi.3	nonsynonymous SNV	exon6	c.A83G	p.N28S	TMGFITGLGLAFNLQPALTIIGKYF	TMGFITGLGLAFSLQPALTIIGKYF	1.0	8.0	unscreened	-	3713_12:60168456-60168456 A>G_TMGFITGLGLAFSLQPALTIIGKYF
5:140308149-140308149 C>T	0.0	3713	MELANOMA	-	-	ID=COSM106552;OCCURENCE=1(skin)	-	PCDHAC1	ENST00000409700,p.P558S|NM_018898,p.P558S|ENST00000253807,p.P558S|uc003lih.2,p.P558S|uc003lig.1,p.P558S|NM_031882,p.P558S	protein_coding	uc003lih.2	nonsynonymous SNV	exon1	c.C1672T	p.P558S	VDRNDNYPVILFPLPRNGSVPVEIV	VDRNDNYPVILFSLPRNGSVPVEIV	1.0	2.0	unscreened	-	3713_5:140308149-140308149 C>T_VDRNDNYPVILFSLPRNGSVPVEIV
10:102824101-102824101 C>T	1.0	3713	MELANOMA	-	-	-	-	KAZALD1	ENST00000370200,p.P199S|uc001kst.1,p.P199S|NM_030929,p.P199S|uc001ksr.3,p.P199S	protein_coding, processed_transcript	uc001kst.1	nonsynonymous SNV	exon2	c.C595T	p.P199S	QDVIFGCEVFAYPMASIEWRKDGLD	QDVIFGCEVFAYSMASIEWRKDGLD	3.0	5.0	unscreened	-	3713_10:102824101-102824101 C>T_QDVIFGCEVFAYSMASIEWRKDGLD
19:36258873-36258873 C>T	1.0	3713	MELANOMA	-	-	-	-	PROSER3	uc021usz.1,p.P376S|NM_001039887,p.P376S|ENST00000396908,p.P376S|ENST00000544099,p.P376S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021usz.1	nonsynonymous SNV	exon9	c.C1126T	p.P376S	VKASPPAFQVGSPEALAPPPPAADH	VKASPPAFQVGSSEALAPPPPAADH	6.0	7.0	unscreened	-	3713_19:36258873-36258873 C>T_VKASPPAFQVGSSEALAPPPPAADH
5:60060105-60060105 G>A	0.0	3713	MELANOMA	-	-	-	-	ELOVL7	NM_001104558,p.H150Y|ENST00000511799,p.H150Y|ENST00000508821,p.H150Y|NM_024930,p.H150Y|uc003jsi.4,p.H150Y|uc003jsj.4,p.H137Y|ENST00000425382,p.H150Y|NM_001297617,p.H137Y|ENST00000438340,p.H150Y|ENST00000505959,p.H137Y|ENST00000507047,p.H150Y|uc010iwk.3,p.H150Y|uc011cqo.2,p.H63Y|NM_001297618,p.H63Y	protein_coding, nonsense_mediated_decay	uc011cqo.2	nonsynonymous SNV	exon6	c.C187T	p.H63Y	KKNSQVTFLHVFHHTIMPWTWWFGV	KKNSQVTFLHVFYHTIMPWTWWFGV	1.0	3.0	unscreened	-	3713_5:60060105-60060105 G>A_KKNSQVTFLHVFYHTIMPWTWWFGV
19:36258874-36258874 C>A	1.0	3713	MELANOMA	-	-	-	-	PROSER3	ENST00000544099,p.P376Q|uc021usz.1,p.P376Q|NM_001039887,p.P376Q|ENST00000396908,p.P376Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021usz.1	nonsynonymous SNV	exon9	c.C1127A	p.P376Q	VKASPPAFQVGSPEALAPPPPAADH	VKASPPAFQVGSQEALAPPPPAADH	6.0	8.0	unscreened	-	3713_19:36258874-36258874 C>A_VKASPPAFQVGSQEALAPPPPAADH
6:136589442-136589442 G>A	0.0	3713	MELANOMA	-	-	-	2	BCLAF1	uc011edb.1,p.S80L|ENST00000530767,p.S579L|uc003qgw.1,p.S579L|ENST00000527536,p.S752L|uc003qgy.1,p.S750L|uc011ede.1,p.S750L|ENST00000527759,p.S750L|NM_014739,p.S752L|NM_001077440,p.S750L|NM_001301038,p.S750L|ENST00000392348,p.S750L|ENST00000353331,p.S750L|NM_001077441,p.S579L|uc003qgx.1,p.S752L|ENST00000531224,p.S752L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ede.1	nonsynonymous SNV	exon10	c.C2249T	p.S750L	SKHKREQDHSRSSSSSASPSSPSSR	SKHKREQDHSRSLSSSASPSSPSSR	9.0	1.0	unscreened	-	3713_6:136589442-136589442 G>A_SKHKREQDHSRSLSSSASPSSPSSR
4:70465032-70465032 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1694469,COSM1694470;OCCURENCE=1(skin)	-	UGT2A1,UGT2A2	uc003hem.4,p.R266C|NM_006798,p.R266C|NM_001301233,p.R275C|ENST00000286604,p.R310C|ENST00000514019,p.R476C|uc011caq.2,p.R476C|NM_001105677,p.R275C|uc010iht.3,p.R266C|NM_001252275,p.R310C|uc021xox.1,p.R275C|ENST00000512704,p.R266C|NM_001301239,p.R266C|ENST00000457664,p.R275C|NM_001252274,p.R476C|uc010ihu.3,p.R310C|ENST00000503640,p.R266C|uc010ihs.3,p.R275C	 processed_transcript,retained_intron, protein_coding	uc021xox.1	nonsynonymous SNV	exon2	c.C823T	p.R275C	WLIRTYWDFEFPRPYLPNFEFVGGL	WLIRTYWDFEFPCPYLPNFEFVGGL	1.0	9.0	unscreened	-	3713_4:70465032-70465032 G>A_WLIRTYWDFEFPCPYLPNFEFVGGL
10:92508612-92508612 T>C	1.0	3713	MELANOMA	-	-	-	-	HTR7	NM_000872,p.R427G|uc001kgz.3,p.R427G|ENST00000277874,p.R427G	protein_coding	uc001kgz.3	nonsynonymous SNV	exon2	c.A1279G	p.R427G	MHEALKLAERPERPEFVLQNADYCR	MHEALKLAERPEGPEFVLQNADYCR	2.0	7.0	unscreened	-	3713_10:92508612-92508612 T>C_MHEALKLAERPEGPEFVLQNADYCR
5:26903912-26903912 G>A	0.0	3713	MELANOMA	-	-	-	-	CDH9	NM_016279,p.P278L|uc003jgs.1,p.P278L|ENST00000231021,p.P278L|uc010iug.3,p.P278L	retained_intron, protein_coding	uc010iug.3	nonsynonymous SNV	exon6	c.C833T	p.P278L	PRFPQSTYQFNSPESVPLGTHLGRI	PRFPQSTYQFNSLESVPLGTHLGRI	1.0	10.0	unscreened	-	3713_5:26903912-26903912 G>A_PRFPQSTYQFNSLESVPLGTHLGRI
5:156898815-156898815 G>A	1.0	3713	MELANOMA	-	-	-	-	NIPAL4	uc003lwx.4,p.M254I|NM_001099287,p.M254I|ENST00000311946,p.M254I|uc011ddq.2,p.M235I|ENST00000435489,p.M235I|NM_001172292,p.M235I	protein_coding, processed_transcript, nonsense_mediated_decay	uc011ddq.2	nonsynonymous SNV	exon4	c.G705A	p.M235I	EKVTTIMEMASKMKDTGFIVFAVLL	EKVTTIMEMASKIKDTGFIVFAVLL	1.0	8.0	unscreened	-	3713_5:156898815-156898815 G>A_EKVTTIMEMASKIKDTGFIVFAVLL
22:19121773-19121773 G>A	1.0	3713	MELANOMA	-	-	-	-	DGCR14	NM_022719,p.P456L|uc002zou.3,p.P456L|ENST00000252137,p.P456L	retained_intron, protein_coding, nonsense_mediated_decay	uc002zou.3	nonsynonymous SNV	exon10	c.C1367T	p.P456L	PGSATRTPLTQDPASITDNLLQLPA	PGSATRTPLTQDLASITDNLLQLPA	4.0	4.0	unscreened	-	3713_22:19121773-19121773 G>A_PGSATRTPLTQDLASITDNLLQLPA
6:32261308-32261308 G>A	0.0	3713	MELANOMA	-	-	-	-	C6orf10	NM_006781,p.S381F|NM_001286474,p.S379F|ENST00000442822,p.S372F|ENST00000375015,p.S380F|NM_001286475,p.S365F|ENST00000375007,p.S379F|uc011dpz.2,p.S379F|ENST00000447241,p.S381F|uc021yvu.1,p.S379F|uc011dpx.2,p.S372F|ENST00000533191,p.S379F|uc021yvv.1,p.S365F|ENST00000527965,p.S365F|uc021yvt.1,p.S381F	protein_coding	uc021yvv.1	nonsynonymous SNV	exon24	c.C1094T	p.S365F	EKSEMGVPRRQESQVKKSQSGVSKG	EKSEMGVPRRQEFQVKKSQSGVSKG	1.0	1.0	unscreened	-	3713_6:32261308-32261308 G>A_EKSEMGVPRRQEFQVKKSQSGVSKG
16:20801993-20801993 C>T	0.0	3713	MELANOMA	-	-	-	-	ACSM3	ENST00000450120,p.L429F|ENST00000289416,p.L437F|NM_005622,p.L437F|uc002dhr.3,p.L437F|uc010vba.2,p.L466F	retained_intron, protein_coding, processed_transcript	uc010vba.2	nonsynonymous SNV	exon10	c.C1396T	p.L466F	IGIQVLPNRPFGLFTHYVDNPSKTA	IGIQVLPNRPFGFFTHYVDNPSKTA	1.0	3.0	unscreened	-	3713_16:20801993-20801993 C>T_IGIQVLPNRPFGFFTHYVDNPSKTA
3:118624493-118624493 G>A	1.0	3713	MELANOMA	-	-	-	-	IGSF11	uc010hqs.3,p.S217F|ENST00000393775,p.S218F|uc003ebw.3,p.S218F|ENST00000425327,p.S217F|ENST00000491903,p.S218F|NM_152538,p.S217F|uc003eby.3,p.S217F|NM_001015887,p.S218F|ENST00000354673,p.S217F|uc011biv.2,p.S218F	protein_coding, processed_transcript	uc011biv.2	nonsynonymous SNV	exon5	c.C653T	p.S218F	SALSSGLYQCVASNAIGTSTCLLDL	SALSSGLYQCVAFNAIGTSTCLLDL	5.0	8.0	unscreened	-	3713_3:118624493-118624493 G>A_SALSSGLYQCVAFNAIGTSTCLLDL
6:36981810-36981810 G>A	0.0	3713	MELANOMA	-	-	-	-	FGD2	uc010jwp.1,p.E253K|NM_173558,p.E253K|ENST00000274963,p.E253K|uc003oni.1,p.E59K	retained_intron, protein_coding, nonsense_mediated_decay	uc010jwp.1	nonsynonymous SNV	exon6	c.G757A	p.E253K	HMLEPVQRIPRYELLLKEYIQKLPA	HMLEPVQRIPRYKLLLKEYIQKLPA	7.0	1.0	unscreened	-	3713_6:36981810-36981810 G>A_HMLEPVQRIPRYKLLLKEYIQKLPA
22:31487817-31487817 G>A	1.0	3713	MELANOMA	-	-	-	-	SMTN	NM_001207017,p.G593E|uc011ale.2,p.G593E|uc003ajn.2,p.G531E	retained_intron, protein_coding, processed_transcript	uc011ale.2	nonsynonymous SNV	exon11	c.G1778A	p.G593E	VTSFSHAPPSSRGGCSIKAAEDAGT	VTSFSHAPPSSREGCSIKAAEDAGT	7.0	7.0	-	-	3713_22:31487817-31487817 G>A_VTSFSHAPPSSREGCSIKAAEDAGT
13:58207031-58207031 G>A	1.0	3713	MELANOMA	-	-	-	-	PCDH17	ENST00000377918,p.M117I|uc010aec.1,p.M117I|ENST00000484979,p.M117I|NM_001040429,p.M117I|uc001vhq.1,p.M117I	protein_coding, nonsense_mediated_decay	uc010aec.1	nonsynonymous SNV	exon1	c.G351A	p.M117I	SLEVFANDKEICMIKVEIQDINDNA	SLEVFANDKEICIIKVEIQDINDNA	3.0	5.0	unscreened	-	3713_13:58207031-58207031 G>A_SLEVFANDKEICIIKVEIQDINDNA
3:183211926-183211926 C>T	0.0	3713	MELANOMA	-	-	-	-	KLHL6	uc003flr.3,p.G431S|NM_130446,p.G431S|ENST00000341319,p.G431S|ENST00000468734,p.G420S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003flr.3	nonsynonymous SNV	exon5	c.G1291A	p.G431S	LGGKVYVIGGFDGLQRINNVETYDP	LGGKVYVIGGFDSLQRINNVETYDP	5.0	2.0	unscreened	-	3713_3:183211926-183211926 C>T_LGGKVYVIGGFDSLQRINNVETYDP
18:67508594-67508594 G>A	0.0	3713	MELANOMA	-	-	-	-	DOK6	NM_152721,p.S324N|uc002lkl.3,p.S324N|ENST00000382713,p.S324N	protein_coding, processed_transcript	uc002lkl.3	nonsynonymous SNV	exon8	c.G971A	p.S324N	QQPLSRSSSYGFSYSSSLIQ	QQPLSRSSSYGFNYSSSLIQ	1.0	10.0	unscreened	-	3713_18:67508594-67508594 G>A_QQPLSRSSSYGFNYSSSLIQ
20:3682106-3682106 G>A	0.0	3713	MELANOMA	-	-	-	-	SIGLEC1	ENST00000344754,p.P471S|uc002wja.3,p.P471S|uc002wiz.4,p.P471S|ENST00000202578,p.P471S|NM_023068,p.P471S	protein_coding	uc002wja.3	nonsynonymous SNV	exon6	c.C1411T	p.P471S	SDHSPRFSGTSGPNSLRLEIRDLEE	SDHSPRFSGTSGSNSLRLEIRDLEE	5.0	10.0	unscreened	-	3713_20:3682106-3682106 G>A_SDHSPRFSGTSGSNSLRLEIRDLEE
3:184049057-184049057 C>T	1.0	3713	MELANOMA	-	-	ID=COSM1693886;OCCURENCE=1(skin)	-	EIF4G1	uc003fnt.3,p.P1100S|ENST00000319274,p.P1389S|ENST00000352767,p.P1396S|NM_182917,p.P1390S|NM_001194946,p.P1396S|ENST00000350481,p.P1225S|uc003fnw.3,p.P1396S|ENST00000435046,p.P1193S|ENST00000346169,p.P1389S|NM_198241,p.P1389S|ENST00000424196,p.P1396S|ENST00000411531,p.P1350S|NM_001194947,p.P1396S|ENST00000427845,p.P1303S|ENST00000382330,p.P1396S|uc010hxy.3,p.P1396S|ENST00000414031,p.P1349S|uc003fnr.3,p.P1225S|uc010hxx.3,p.P1396S|uc003fnp.3,p.P1389S|ENST00000392537,p.P1302S|NM_004953,p.P1194S|NM_198244,p.P1302S|NM_001291157,p.P1349S|ENST00000441154,p.P1226S|ENST00000342981,p.P1390S|uc003fns.3,p.P1349S|uc003fnv.4,p.P1390S|uc003fnq.3,p.P1302S|uc003fnx.3,p.P1194S|NM_198242,p.P1225S|ENST00000434061,p.P1194S	retained_intron, protein_coding, nonsense_mediated_decay	uc010hxy.3	nonsynonymous SNV	exon29	c.C4186T	p.P1396S	LEILGLLCKSMGPKKVGTLWREAGL	LEILGLLCKSMGSKKVGTLWREAGL	10.0	6.0	unscreened	-	3713_3:184049057-184049057 C>T_LEILGLLCKSMGSKKVGTLWREAGL
3:97356810-97356810 C>T	0.0	3713	MELANOMA	-	-	-	-	EPHA6	NM_001278300,p.H282Y|ENST00000477384,p.H214Y|uc003drt.4,p.H282Y|ENST00000514100,p.H282Y|NM_001080448,p.H890Y|ENST00000502694,p.H282Y|NM_173655,p.H282Y|uc003drr.5,p.H282Y|uc010how.1,p.H890Y|ENST00000389672,p.H890Y|uc003drs.5,p.H282Y	protein_coding, nonsense_mediated_decay	uc010how.1	nonsynonymous SNV	exon14	c.C2668T	p.H890Y	SGMKYLSDMGYVHRDLAARNILVNS	SGMKYLSDMGYVYRDLAARNILVNS	1.0	7.0	unscreened	-	3713_3:97356810-97356810 C>T_SGMKYLSDMGYVYRDLAARNILVNS
11:26743197-26743197 G>A	0.0	3713	MELANOMA	-	-	-	-	SLC5A12	uc001mra.2,p.S22F|NM_178498,p.S22F|ENST00000396005,p.S22F|ENST00000280467,p.S22F|uc001mrc.4,p.S22F	retained_intron, protein_coding, nonsense_mediated_decay	uc001mrc.4	nonsynonymous SNV	exon1	c.C65T	p.S22F	DYVVFAALFFISSGIGVFFAIKERK	DYVVFAALFFISFGIGVFFAIKERK	1.0	7.0	unscreened	-	3713_11:26743197-26743197 G>A_DYVVFAALFFISFGIGVFFAIKERK
7:130139748-130139748 C>T	1.0	3713	MELANOMA	-	-	-	-	MEST	uc011kph.2,p.L176F|ENST00000437945,p.L190F|ENST00000378576,p.L181F|NM_177525,p.L181F|ENST00000393187,p.L181F|uc003vqc.3,p.L181F|NM_001253900,p.L176F|ENST00000223215,p.L190F|uc003vqg.3,p.L190F|ENST00000427521,p.L181F|ENST00000421001,p.L181F|uc022alp.1,p.L181F|NM_001253902,p.L181F|NM_177524,p.L181F|NM_002402,p.L190F|ENST00000341441,p.L181F|NM_001253901,p.L181F|ENST00000416162,p.L181F|ENST00000463263,p.L48F|uc003vqd.3,p.L181F|uc003vqf.3,p.L181F	retained_intron, protein_coding, processed_transcript	uc022alp.1	nonsynonymous SNV	exon7	c.C541T	p.L181F	GGIFPETHRPLLLQKLLKDGGVLSP	GGIFPETHRPLLFQKLLKDGGVLSP	4.0	7.0	-	-	3713_7:130139748-130139748 C>T_GGIFPETHRPLLFQKLLKDGGVLSP
8:31498081-31498081 C>T	0.0	3713	MELANOMA	-	-	-	1	NRG1	NM_013962,p.P194L|uc003xip.3,p.P194L|ENST00000523534,p.P47L|ENST00000520407,p.P194L	retained_intron, protein_coding, processed_transcript	uc003xip.3	nonsynonymous SNV	exon1	c.C581T	p.P194L	TVRLGTWGHPAFPSCGRLKEDSRYI	TVRLGTWGHPAFLSCGRLKEDSRYI	1.0	9.0	unscreened	-	3713_8:31498081-31498081 C>T_TVRLGTWGHPAFLSCGRLKEDSRYI
X:140993770-140993770 C>T	1.0	3713	MELANOMA	-	-	-	-	MAGEC1	uc004fbt.3,p.P194S|NM_005462,p.P194S|ENST00000285879,p.P194S	protein_coding	uc004fbt.3	nonsynonymous SNV	exon4	c.C580T	p.P194S	SPESTQSPFEGFPQSPLQIPVSRSF	SPESTQSPFEGFSQSPLQIPVSRSF	1.0	10.0	unscreened	-	3713_X:140993770-140993770 C>T_SPESTQSPFEGFSQSPLQIPVSRSF
2:21231956-21231956 C>T	0.0	3713	MELANOMA	-	-	-	-	APOB	NM_000384,p.G2595E|uc002red.3,p.G2595E|ENST00000233242,p.G2595E	protein_coding	uc002red.3	nonsynonymous SNV	exon26	c.G7784A	p.G2595E	QGFTVPEIKTILGTMPAFEVSLQAL	QGFTVPEIKTILETMPAFEVSLQAL	1.0	8.0	unscreened	-	3713_2:21231956-21231956 C>T_QGFTVPEIKTILETMPAFEVSLQAL
7:92132489-92132489 C>T	1.0	3713	MELANOMA	-	-	-	-	PEX1	ENST00000541751,p.E115K|ENST00000248633,p.E698K|NM_001282678,p.E490K|uc003uly.3,p.E698K|ENST00000438045,p.E376K|uc011khs.2,p.E376K|uc011khr.2,p.E490K|NM_000466,p.E698K	retained_intron, protein_coding, nonsense_mediated_decay	uc011khs.2	nonsynonymous SNV	exon10	c.G1126A	p.E376K	QRLAHALNDMIKEFISMGSLVALIA	QRLAHALNDMIKKFISMGSLVALIA	8.0	8.0	-	-	3713_7:92132489-92132489 C>T_QRLAHALNDMIKKFISMGSLVALIA
10:72539420-72539420 T>C	0.0	3713	MELANOMA	-	-	-	-	TBATA	uc009xqj.1,p.K114E	protein_coding	uc009xqj.1	nonsynonymous SNV	exon3	c.A340G	p.K114E	PPCLSQLSFPAVKWGYPPSLSPLET	PPCLSQLSFPAVEWGYPPSLSPLET	1.0	5.0	unscreened	-	3713_10:72539420-72539420 T>C_PPCLSQLSFPAVEWGYPPSLSPLET
1:158597486-158597486 C>T	1.0	3713	MELANOMA	-	-	-	-	SPTA1	ENST00000368148,p.E1865K|NM_003126,p.E1865K|ENST00000368147,p.E1865K|uc001fst.1,p.E1865K	protein_coding, processed_transcript	uc001fst.1	nonsynonymous SNV	exon40	c.G5593A	p.E1865K	ATQSLLMKHEALENDFAVHETRVQN	ATQSLLMKHEALKNDFAVHETRVQN	6.0	2.0	unscreened	-	3713_1:158597486-158597486 C>T_ATQSLLMKHEALKNDFAVHETRVQN
4:54344809-54344809 C>T	0.0	3713	MELANOMA	-	-	-	-	LNX1	NM_032622,p.R433K|ENST00000263925,p.R529K|NM_001126328,p.R529K|uc003hag.5,p.R529K|ENST00000306888,p.R433K|uc003haf.4,p.R433K	retained_intron, protein_coding, processed_transcript	uc003hag.5	nonsynonymous SNV	exon8	c.G1586A	p.R529K	SLGMTVAGGASHREWDLPIYVISVE	SLGMTVAGGASHKEWDLPIYVISVE	1.0	3.0	unscreened	-	3713_4:54344809-54344809 C>T_SLGMTVAGGASHKEWDLPIYVISVE
8:133187738-133187738 C>T	0.0	3713	MELANOMA	-	-	-	-	KCNQ3	ENST00000521134,p.E179K|uc003yti.3,p.E179K|uc003ytj.3,p.E299K|ENST00000519445,p.E299K|NM_001204824,p.E179K|uc010mdt.3,p.E299K|ENST00000388996,p.E299K|NM_004519,p.E299K	retained_intron, protein_coding	uc010mdt.3	nonsynonymous SNV	exon5	c.G895A	p.E299K	PEVDAQGEEMKEEFETYADALWWGL	PEVDAQGEEMKEKFETYADALWWGL	2.0	2.0	unscreened	-	3713_8:133187738-133187738 C>T_PEVDAQGEEMKEKFETYADALWWGL
4:169227748-169227748 C>T	1.0	3713	MELANOMA	-	-	-	-	DDX60	NM_017631,p.E130K|ENST00000393743,p.E130K|uc003irp.3,p.E130K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003irp.3	nonsynonymous SNV	exon5	c.G388A	p.E130K	DVRTTFSRCLSKEWGSFLEESYPYF	DVRTTFSRCLSKKWGSFLEESYPYF	5.0	4.0	unscreened	-	3713_4:169227748-169227748 C>T_DVRTTFSRCLSKKWGSFLEESYPYF
7:20199187-20199187 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1088245;OCCURENCE=1(endometrium)	-	MACC1	ENST00000400331,p.S266L|ENST00000589011,p.S266L|NM_182762,p.S266L|ENST00000332878,p.S266L|uc010kug.3,p.S266L|uc003sus.4,p.S266L	retained_intron, protein_coding, processed_transcript	uc010kug.3	nonsynonymous SNV	exon3	c.C797T	p.S266L	FLDPPHMLNHDLSCTVSPLLEIMLG	FLDPPHMLNHDLLCTVSPLLEIMLG	1.0	7.0	unscreened	-	3713_7:20199187-20199187 G>A_FLDPPHMLNHDLLCTVSPLLEIMLG
10:90974598-90974598 C>T	1.0	3713	MELANOMA	-	-	-	-	LIPA	uc001kgb.4,p.R340K|NM_001288979,p.R280K|ENST00000336233,p.R396K|NM_001127605,p.R396K|uc009xtq.3,p.R396K|uc001kgc.4,p.R398K|uc001kga.4,p.R396K|NM_000235,p.R396K|ENST00000371837,p.R340K|uc010qnf.2,p.R201K|ENST00000456827,p.R396K	protein_coding, processed_transcript	uc010qnf.2	nonsynonymous SNV	exon5	c.G602A	p.R201K	PWRLYNKIINLMRKYQ	PWRLYNKIINLMKKYQ	10.0	5.0	-	-	3713_10:90974598-90974598 C>T_PWRLYNKIINLMKKYQ
9:137622286-137622286 C>T	1.0	3713	MELANOMA	-	-	-	-	COL5A1	ENST00000371817,p.P377S|NM_001278074,p.P377S|uc031tfl.1,p.P377S|uc004cfe.4,p.P377S|NM_000093,p.P377S	retained_intron, protein_coding, processed_transcript	uc031tfl.1	nonsynonymous SNV	exon7	c.C1129T	p.P377S	DQPTDPGAGAEIPTSTADTSNSSNP	DQPTDPGAGAEISTSTADTSNSSNP	6.0	2.0	-	-	3713_9:137622286-137622286 C>T_DQPTDPGAGAEISTSTADTSNSSNP
8:55371624-55371624 C>T	0.0	3713	MELANOMA	-	-	-	-	SOX17	NM_022454,p.S105L|uc003xsb.4,p.S105L|ENST00000297316,p.S105L	protein_coding	uc003xsb.4	nonsynonymous SNV	exon2	c.C314T	p.S105L	LHNAELSKMLGKSWKALTLAEKRPF	LHNAELSKMLGKLWKALTLAEKRPF	1.0	5.0	unscreened	-	3713_8:55371624-55371624 C>T_LHNAELSKMLGKLWKALTLAEKRPF
6:86322616-86322616 G>A	1.0	3713	MELANOMA	-	-	-	-	SYNCRIP	NM_001159677,p.P558L|uc003pkw.3,p.P523L|uc003pkx.3,p.P406L|NM_001159674,p.P523L|uc003pky.3,p.P460L|NM_001253771,p.P406L|ENST00000355238,p.P558L|uc003pkv.3,p.P558L|NM_001159673,p.P460L	protein_coding, nonsense_mediated_decay	uc003pky.3	nonsynonymous SNV	exon11	c.C1379T	p.P460L	RGRGQGKGVEAGPDLLQ	RGRGQGKGVEAGLDLLQ	8.0	10.0	-	-	3713_6:86322616-86322616 G>A_RGRGQGKGVEAGLDLLQ
10:135087270-135087270 G>A	0.0	3713	MELANOMA	-	-	-	-	ADAM8	NM_001164490,p.P92L|uc010qva.2,p.P92L|ENST00000485491,p.P92L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qva.2	nonsynonymous SNV	exon4	c.C275T	p.P92L	PGLSRQPQHLCRPQVGSDLHLIEPL	PGLSRQPQHLCRLQVGSDLHLIEPL	6.0	1.0	unscreened	-	3713_10:135087270-135087270 G>A_PGLSRQPQHLCRLQVGSDLHLIEPL
10:43280965-43280965 C>T	1.0	3713	MELANOMA	-	-	-	-	BMS1	NM_014753,p.P71L|ENST00000374518,p.P71L|uc001jaj.3,p.P71L	protein_coding	uc001jaj.3	nonsynonymous SNV	exon3	c.C212T	p.P71L	RTQDLKTKKHHIPVVDRTPLEPPPI	RTQDLKTKKHHILVVDRTPLEPPPI	5.0	6.0	-	-	3713_10:43280965-43280965 C>T_RTQDLKTKKHHILVVDRTPLEPPPI
4:62775416-62775416 A>C	1.0	3713	MELANOMA	-	-	-	-	LPHN3	ENST00000504896,p.N608H|NM_015236,p.N608H|ENST00000514157,p.N608H|ENST00000508946,p.N608H|ENST00000514591,p.N608H|uc003hcs.1,p.N437H|ENST00000511324,p.N676H|ENST00000509896,p.N676H|ENST00000512091,p.N608H|ENST00000506746,p.N676H|ENST00000507625,p.N676H|ENST00000506700,p.N608H|ENST00000514996,p.N608H|uc003hct.3,p.N14H|ENST00000508693,p.N676H|ENST00000507164,p.N676H|uc010ihh.3,p.N608H|ENST00000545650,p.N608H|ENST00000506720,p.N676H|uc003hcq.4,p.N608H	retained_intron, protein_coding, processed_transcript	uc010ihh.3	nonsynonymous SNV	exon9	c.A1822C	p.N608H	DQLVGLLDVQLRNLTPGGKDSAARS	DQLVGLLDVQLRHLTPGGKDSAARS	1.0	9.0	unscreened	-	3713_4:62775416-62775416 A>C_DQLVGLLDVQLRHLTPGGKDSAARS
6:128643005-128643005 C>T	1.0	3713	MELANOMA	-	-	-	1	PTPRK	ENST00000525459,p.R225K|uc003qbm.4,p.R154K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003qbm.4	nonsynonymous SNV	exon4	c.G461A	p.R154K	IHRYTYASHGNERLPLFLPHPVDEE	IHRYTYASHGNEKLPLFLPHPVDEE	1.0	5.0	unscreened	-	3713_6:128643005-128643005 C>T_IHRYTYASHGNEKLPLFLPHPVDEE
11:4388714-4388714 G>A	0.0	3713	MELANOMA	-	-	-	-	OR52B4	NM_001005161,p.P271L|ENST00000408920,p.P271L|uc010qye.2,p.P271L	protein_coding	uc010qye.2	nonsynonymous SNV	exon1	c.C812T	p.P271L	FTILTQRFGRHIPPCIHIPLANVCI	FTILTQRFGRHILPCIHIPLANVCI	1.0	10.0	unscreened	-	3713_11:4388714-4388714 G>A_FTILTQRFGRHILPCIHIPLANVCI
7:48547536-48547536 C>T	0.0	3713	MELANOMA	-	-	-	-	ABCA13	uc031sxg.1,p.S2154F|uc010kys.2,p.S2154F|ENST00000411975,p.S245F|uc010kyu.1,p.S202F|uc003toq.2,p.S4472F|NM_152701,p.S4472F|ENST00000435803,p.S4472F|ENST00000544596,p.S202F	retained_intron, protein_coding, nonsense_mediated_decay	uc031sxg.1	nonsynonymous SNV	exon33	c.C6461T	p.S2154F	LCIVLGFSILSASIGSSVVRDRVIG	LCIVLGFSILSAFIGSSVVRDRVIG	1.0	7.0	unscreened	-	3713_7:48547536-48547536 C>T_LCIVLGFSILSAFIGSSVVRDRVIG
1:117559972-117559972 G>A	0.0	3713	MELANOMA	-	-	-	-	CD101	NM_001256109,p.E497K|uc010oxb.2,p.E497K|NM_001256106,p.E497K|ENST00000256652,p.E497K|uc009whd.4,p.E497K|NM_004258,p.E497K|ENST00000369470,p.E497K|uc010oxd.2,p.E435K|NM_001256111,p.E435K|uc010oxc.2,p.E497K	protein_coding, processed_transcript	uc010oxd.2	nonsynonymous SNV	exon5	c.G1303A	p.E435K	RLEKMDWATFQLEITFTAITDSGTY	RLEKMDWATFQLKITFTAITDSGTY	1.0	1.0	unscreened	-	3713_1:117559972-117559972 G>A_RLEKMDWATFQLKITFTAITDSGTY
2:108924889-108924889 G>A	0.0	3713	MELANOMA	-	-	-	-	SULT1C2	uc002tdy.3,p.G287E|ENST00000409880,p.G250E|ENST00000437390,p.G301E|NM_176825,p.G298E|ENST00000326853,p.G298E|uc002tdx.3,p.G298E|NM_001056,p.G287E|uc010ywq.2,p.G301E|ENST00000251481,p.G287E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ywq.2	nonsynonymous SNV	exon8	c.G902A	p.G301E	ERFDEIYRRKMEGTSINFCMEL	ERFDEIYRRKMEETSINFCMEL	1.0	7.0	unscreened	-	3713_2:108924889-108924889 G>A_ERFDEIYRRKMEETSINFCMEL
3:111769572-111769572 C>T	0.0	3713	MELANOMA	-	-	-	-	TMPRSS7	ENST00000452346,p.S382L|uc010hqb.2,p.S256L|NM_001042575,p.S256L|uc011bhr.1,p.S111L|ENST00000419127,p.S256L	protein_coding, nonsense_mediated_decay	uc011bhr.1	nonsynonymous SNV	exon8	c.C332T	p.S111L	LVKDITGFEGKISSPYYPSYYPPKC	LVKDITGFEGKILSPYYPSYYPPKC	1.0	7.0	unscreened	-	3713_3:111769572-111769572 C>T_LVKDITGFEGKILSPYYPSYYPPKC
3:49699885-49699885 C>T	0.0	3713	MELANOMA	-	-	ID=COSM231861;OCCURENCE=1(skin)	-	BSN	ENST00000296452,p.S3536F|NM_003458,p.S3536F|uc003cxe.4,p.S3536F	retained_intron, protein_coding	uc003cxe.4	nonsynonymous SNV	exon6	c.C10607T	p.S3536F	GGDTCPQFCSSHSMPDVQEHVKDGP	GGDTCPQFCSSHFMPDVQEHVKDGP	1.0	7.0	unscreened	-	3713_3:49699885-49699885 C>T_GGDTCPQFCSSHFMPDVQEHVKDGP
6:90648029-90648029 G>A	0.0	3713	MELANOMA	-	-	-	-	BACH2	uc011eab.2,p.P626L|ENST00000257749,p.P626L|uc003pnw.3,p.P626L|NM_021813,p.P626L|ENST00000343122,p.P626L|ENST00000537989,p.P626L|NM_001170794,p.P626L	protein_coding, processed_transcript	uc011eab.2	nonsynonymous SNV	exon8	c.C1877T	p.P626L	KLPFPVDQITDLPRNDFQMMIKMHK	KLPFPVDQITDLLRNDFQMMIKMHK	3.0	6.0	unscreened	-	3713_6:90648029-90648029 G>A_KLPFPVDQITDLLRNDFQMMIKMHK
X:70145769-70145769 C>T	0.0	3713	MELANOMA	-	-	-	-	SLC7A3	ENST00000374299,p.G585E|uc004dyo.3,p.G585E|NM_001048164,p.G585E|ENST00000298085,p.G585E|uc004dyn.3,p.G585E|NM_032803,p.G585E	protein_coding	uc004dyo.3	nonsynonymous SNV	exon12	c.G1754A	p.G585E	WMLIGFAIYFGYGIQHSLEEIKSNQ	WMLIGFAIYFGYEIQHSLEEIKSNQ	1.0	7.0	unscreened	-	3713_X:70145769-70145769 C>T_WMLIGFAIYFGYEIQHSLEEIKSNQ
5:150945405-150945405 G>A	0.0	3713	MELANOMA	-	-	-	-	FAT2	uc003lue.4,p.P1030S|ENST00000261800,p.P1030S|uc010jhx.1,p.P1030S|NM_001447,p.P1030S	protein_coding	uc010jhx.1	nonsynonymous SNV	exon1	c.C3088T	p.P1030S	VIVLDVNENLHPPHFASFVHQGQVQ	VIVLDVNENLHPSHFASFVHQGQVQ	1.0	10.0	unscreened	-	3713_5:150945405-150945405 G>A_VIVLDVNENLHPSHFASFVHQGQVQ
3:77611857-77611857 C>T	0.0	3713	MELANOMA	-	-	-	2	ROBO2	ENST00000602589,p.S518F|ENST00000473767,p.S498F|ENST00000461745,p.S498F|ENST00000332191,p.S498F|ENST00000487694,p.S514F|NM_002942,p.S498F|NM_001290040,p.S502F|uc021xat.1,p.S514F|NM_001290039,p.S502F|uc003dpy.4,p.S498F|uc003dpz.3,p.S502F|uc011bgk.2,p.S502F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xat.1	nonsynonymous SNV	exon10	c.C1541T	p.S514F	YTCVATSSSGETSWSAVLDVTESGA	YTCVATSSSGETFWSAVLDVTESGA	1.0	3.0	unscreened	-	3713_3:77611857-77611857 C>T_YTCVATSSSGETFWSAVLDVTESGA
6:130530691-130530691 G>A	0.0	3713	MELANOMA	-	-	-	-	SAMD3	ENST00000437477,p.P111L|ENST00000529723,p.P109L|ENST00000324172,p.P111L|ENST00000457563,p.P135L|uc003qbz.1,p.P70L|uc031spp.1,p.P135L|uc003qby.4,p.P111L|uc003qbw.4,p.P111L|NM_001277185,p.P135L|NM_001017373,p.P111L|uc010kfg.2,p.P111L|ENST00000532763,p.P109L|ENST00000531544,p.P111L|NM_001258275,p.P111L|ENST00000532309,p.P111L|ENST00000439090,p.P111L|ENST00000368134,p.P111L|uc003qbx.4,p.P111L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031spp.1	nonsynonymous SNV	exon4	c.C404T	p.P135L	PARHGEQMPSFYPAENLDNGLIDQR	PARHGEQMPSFYLAENLDNGLIDQR	2.0	6.0	unscreened	-	3713_6:130530691-130530691 G>A_PARHGEQMPSFYLAENLDNGLIDQR
18:31319128-31319128 G>A	0.0	3713	MELANOMA	-	-	-	-	ASXL3	uc002kxq.2,p.G294E|uc010dmg.1,p.G587E|ENST00000269197,p.G587E|NM_030632,p.G587E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dmg.1	nonsynonymous SNV	exon11	c.G1760A	p.G587E	GSSSLEGQFPNEGIAIDMELQSDPE	GSSSLEGQFPNEEIAIDMELQSDPE	1.0	6.0	unscreened	-	3713_18:31319128-31319128 G>A_GSSSLEGQFPNEEIAIDMELQSDPE
7:135080473-135080473 G>A	1.0	3713	MELANOMA	-	-	-	-	CNOT4	ENST00000423368,p.P348S|NM_013316,p.P345S|ENST00000414802,p.P348S|NM_001190849,p.P345S|ENST00000541284,p.P348S|ENST00000356162,p.P348S|ENST00000315544,p.P348S|uc003vsv.2,p.P348S|ENST00000428680,p.P345S|uc011kpz.2,p.P345S|NM_001008225,p.P345S|NM_001190847,p.P348S|ENST00000361528,p.P345S|uc003vst.3,p.P348S|uc011kpy.2,p.P348S|uc003vsu.2,p.P345S|uc003vss.3,p.P345S|NM_001190848,p.P348S|NM_001190850,p.P348S|ENST00000451834,p.P345S	protein_coding, processed_transcript	uc011kpz.2	nonsynonymous SNV	exon9	c.C1033T	p.P345S	LFSDNFRHPNPIPSGLPPFPSSPQT	LFSDNFRHPNPISSGLPPFPSSPQT	8.0	3.0	-	-	3713_7:135080473-135080473 G>A_LFSDNFRHPNPISSGLPPFPSSPQT
5:169127065-169127065 C>T	1.0	3713	MELANOMA	-	-	ID=COSM1065700;OCCURENCE=1(endometrium)	-	DOCK2	uc003maf.3,p.R394C|ENST00000524185,p.R394C|ENST00000256935,p.R394C|NM_004946,p.R394C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003maf.3	nonsynonymous SNV	exon13	c.C1180T	p.R394C	TMKMLVGDIIQIRKDYPHLVDRTTV	TMKMLVGDIIQICKDYPHLVDRTTV	5.0	6.0	-	-	3713_5:169127065-169127065 C>T_TMKMLVGDIIQICKDYPHLVDRTTV
1:2535633-2535633 G>T	0.0	3713	MELANOMA	-	-	-	-	MMEL1	NM_033467,p.Q302K|ENST00000504800,p.Q302K|ENST00000288709,p.Q293K|ENST00000378412,p.Q302K|uc001ajy.2,p.Q302K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ajy.2	nonsynonymous SNV	exon10	c.C904A	p.Q302K	EDANLPRDSCLVQEDMVQVLELETQ	EDANLPRDSCLVKEDMVQVLELETQ	1.0	10.0	unscreened	-	3713_1:2535633-2535633 G>T_EDANLPRDSCLVKEDMVQVLELETQ
4:169819744-169819744 G>A	1.0	3713	MELANOMA	-	-	-	-	PALLD	ENST00000507735,p.G280E|NM_001166108,p.G784E|uc003iru.3,p.G767E|NM_016081,p.G767E|NM_001166109,p.G385E|ENST00000505667,p.G784E|ENST00000335742,p.G609E|ENST00000261509,p.G767E|ENST00000512127,p.G385E|uc003irw.3,p.G280E|NM_001166110,p.G280E|uc003irv.3,p.G385E|uc011cjx.2,p.G784E|ENST00000510998,p.G60E|ENST00000393726,p.G60E	retained_intron, protein_coding	uc011cjx.2	nonsynonymous SNV	exon14	c.G2351A	p.G784E	SPVDESGDEVQYGDVPVENGMAPFF	SPVDESGDEVQYEDVPVENGMAPFF	7.0	6.0	-	-	3713_4:169819744-169819744 G>A_SPVDESGDEVQYEDVPVENGMAPFF
19:51981835-51981835 G>A	0.0	3713	MELANOMA	-	-	-	-	CEACAM18	uc002pwv.1,p.G41E|ENST00000451626,p.G41E	protein_coding	uc002pwv.1	nonsynonymous SNV	exon2	c.G122A	p.G41E	RQPLCQETQVLEGAEEVAVSLEGPL	RQPLCQETQVLEEAEEVAVSLEGPL	1.0	10.0	unscreened	-	3713_19:51981835-51981835 G>A_RQPLCQETQVLEEAEEVAVSLEGPL
21:19726160-19726160 G>A	1.0	3713	MELANOMA	-	-	-	-	TMPRSS15	NM_002772,p.P301S|uc002ykw.3,p.P301S|ENST00000284885,p.P301S	protein_coding, processed_transcript	uc002ykw.3	nonsynonymous SNV	exon9	c.C901T	p.P301S	SKILRASIWETNPGTIRIFSNQVTA	SKILRASIWETNSGTIRIFSNQVTA	1.0	7.0	unscreened	-	3713_21:19726160-19726160 G>A_SKILRASIWETNSGTIRIFSNQVTA
1:47264788-47264788 C>T	0.0	3713	MELANOMA	-	-	-	-	CYP4B1	NM_000779,p.S12F|uc009vym.3,p.S12F|ENST00000371919,p.S12F|uc001cqn.4,p.S12F|ENST00000534708,p.S12F|ENST00000271153,p.S12F|ENST00000529715,p.S12F|NM_001099772,p.S12F|ENST00000371923,p.S12F|ENST00000464439,p.S12F|uc001cqm.4,p.S12F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009vym.3	nonsynonymous SNV	exon1	c.C35T	p.S12F	MVPSFLSLSFSSLGLWASGLILVL	MVPSFLSLSFSFLGLWASGLILVL	1.0	10.0	unscreened	-	3713_1:47264788-47264788 C>T_MVPSFLSLSFSFLGLWASGLILVL
9:113704334-113704334 C>T	1.0	3713	MELANOMA	-	-	-	-	LPAR1	ENST00000538760,p.G55R|uc004bfc.3,p.G54R|NM_001401,p.G54R|ENST00000358883,p.G54R|uc004bfb.3,p.G54R|ENST00000374431,p.G54R|ENST00000374430,p.G54R|NM_057159,p.G54R|uc011lwn.2,p.G36R|uc004bfa.3,p.G54R|ENST00000441240,p.G54R|uc011lwm.2,p.G55R|uc011lwo.2,p.G55R|uc010mub.3,p.G54R|ENST00000541779,p.G55R	protein_coding	uc011lwo.2	nonsynonymous SNV	exon2	c.G163A	p.G55R	ATEWNTVSKLVMGLGITVCIFIMLA	ATEWNTVSKLVMRLGITVCIFIMLA	3.0	4.0	-	-	3713_9:113704334-113704334 C>T_ATEWNTVSKLVMRLGITVCIFIMLA
12:97078989-97078989 G>A	0.0	3713	MELANOMA	-	-	-	-	CDK17,NEDD1	ENST00000524981,p.G447E|uc021rcc.1,p.G421E	-	uc021rcc.1	nonsynonymous SNV	exon9	c.G1262A	p.G421E	FLSRVGIWGCLQGAVISAKIAQFIK	FLSRVGIWGCLQEAVISAKIAQFIK	1.0	4.0	unscreened	-	3713_12:97078989-97078989 G>A_FLSRVGIWGCLQEAVISAKIAQFIK
15:90272279-90272279 C>T	0.0	3713	MELANOMA	-	-	-	-	WDR93	NM_001284395,p.P360S|NM_020212,p.P360S|ENST00000560294,p.P360S|ENST00000557825,p.P77S|ENST00000444934,p.P77S|uc010upz.2,p.P77S|uc010bnr.3,p.P360S|uc002boj.3,p.P360S|ENST00000268130,p.P360S	protein_coding	uc010upz.2	nonsynonymous SNV	exon4	c.C229T	p.P77S	EPLSTATFYFLLPSCLFAMPPEVKG	EPLSTATFYFLLSSCLFAMPPEVKG	1.0	8.0	unscreened	-	3713_15:90272279-90272279 C>T_EPLSTATFYFLLSSCLFAMPPEVKG
19:44661673-44661673 C>T	1.0	3713	MELANOMA	-	-	-	-	ZNF234	uc002oym.3,p.H502Y|NM_001144824,p.H502Y|ENST00000426739,p.H502Y|NM_006630,p.H502Y|ENST00000592437,p.H502Y|uc002oyl.4,p.H502Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc002oym.3	nonsynonymous SNV	exon6	c.C1504T	p.H502Y	GKGFSRRADLKIHCRIHTGEKPYNC	GKGFSRRADLKIYCRIHTGEKPYNC	6.0	6.0	unscreened	-	3713_19:44661673-44661673 C>T_GKGFSRRADLKIYCRIHTGEKPYNC
5:41929840-41929840 C>T	1.0	3713	MELANOMA	-	-	ID=COSM4141824,COSM4141823;OCCURENCE=1(ovary)	-	FBXO4	NM_001297437,p.S156F|ENST00000296812,p.S156F|ENST00000509134,p.S156F|NM_033484,p.S156F|ENST00000281623,p.S156F|NM_012176,p.S156F|uc003jmp.3,p.S156F|uc003jmq.3,p.S156F	retained_intron, protein_coding, nonsense_mediated_decay	uc003jmq.3	nonsynonymous SNV	exon3	c.C467T	p.S156F	RMCCPYTRRASKSSRPMYGAVTSFL	RMCCPYTRRASKFSRPMYGAVTSFL	3.0	6.0	-	-	3713_5:41929840-41929840 C>T_RMCCPYTRRASKFSRPMYGAVTSFL
12:54914488-54914488 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1705731;OCCURENCE=1(skin)	-	NCKAP1L	ENST00000293373,p.R546C|NM_005337,p.R546C|uc001sgc.4,p.R546C|ENST00000545638,p.R496C|uc010sox.2,p.R88C|uc010soy.2,p.R496C|NM_001184976,p.R496C	retained_intron, protein_coding, nonsense_mediated_decay	uc010soy.2	nonsynonymous SNV	exon17	c.C1486T	p.R496C	ETSDLSTFCFHLRIFEKMFAMTLEE	ETSDLSTFCFHLCIFEKMFAMTLEE	6.0	5.0	unscreened	-	3713_12:54914488-54914488 C>T_ETSDLSTFCFHLCIFEKMFAMTLEE
12:49425353-49425353 G>A	1.0	3713	MELANOMA	-	-	-	1	KMT2D	uc001rta.4,p.P4379S|ENST00000301067,p.P4379S|NM_003482,p.P4379S	retained_intron, protein_coding, processed_transcript	uc001rta.4	nonsynonymous SNV	exon39	c.C13135T	p.P4379S	DTLFSKGLGPWDPPDNLAETQKPEQ	DTLFSKGLGPWDSPDNLAETQKPEQ	9.0	5.0	-	-	3713_12:49425353-49425353 G>A_DTLFSKGLGPWDSPDNLAETQKPEQ
11:92085564-92085564 G>A	0.0	3713	MELANOMA	-	-	-	2	FAT3	uc001pdj.4,p.E96K|ENST00000409404,p.E96K|ENST00000298047,p.E96K|ENST00000541502,p.E96K|NM_001008781,p.E96K	retained_intron, protein_coding, processed_transcript	uc001pdj.4	nonsynonymous SNV	exon1	c.G286A	p.E96K	VSGDEEGFFKAEEVIIADFCFLRIR	VSGDEEGFFKAEKVIIADFCFLRIR	1.0	10.0	unscreened	-	3713_11:92085564-92085564 G>A_VSGDEEGFFKAEKVIIADFCFLRIR
5:140626812-140626812 G>A	1.0	3713	MELANOMA	-	-	-	-	PCDHB15	ENST00000231173,p.D556N|uc003lje.3,p.D556N|NM_018935,p.D556N	protein_coding	uc003lje.3	nonsynonymous SNV	exon1	c.G1666A	p.D556N	EALVRVLVLDANDNSPFVLYPLQNG	EALVRVLVLDANNNSPFVLYPLQNG	3.0	3.0	unscreened	-	3713_5:140626812-140626812 G>A_EALVRVLVLDANNNSPFVLYPLQNG
9:38611314-38611314 C>T	0.0	3713	MELANOMA	-	-	-	-	ANKRD18A	uc004abg.4,p.G167E|uc010mme.3,p.G167E|NM_147195,p.G167E|ENST00000399703,p.G167E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010mme.3	nonsynonymous SNV	exon4	c.G500A	p.G167E	SHHANIEALNKEGNTPLLFAINSRR	SHHANIEALNKEENTPLLFAINSRR	2.0	2.0	unscreened	-	3713_9:38611314-38611314 C>T_SHHANIEALNKEENTPLLFAINSRR
7:50737501-50737501 G>A	0.0	3713	MELANOMA	-	-	-	-	GRB10	uc010kzb.2,p.P83L|ENST00000357271,p.P141L|ENST00000398810,p.P83L|ENST00000398812,p.P141L|ENST00000402578,p.P83L|uc003tpj.2,p.P141L|uc003tpi.2,p.P141L|ENST00000402497,p.P83L|ENST00000335866,p.P83L|NM_001001550,p.P83L|uc003tph.3,p.P83L|ENST00000407526,p.P83L|ENST00000403097,p.P135L|ENST00000439599,p.P135L|NM_001001549,p.P141L|NM_001001555,p.P83L|ENST00000406641,p.P83L|NM_005311,p.P141L|uc003tpk.2,p.P141L|uc003tpm.2,p.P83L|ENST00000401949,p.P141L|uc003tpl.2,p.P135L	retained_intron, protein_coding, processed_transcript	uc010kzb.2	nonsynonymous SNV	exon6	c.C248T	p.P83L	QFRTSSLPAIPNPFPELCGPGSPPV	QFRTSSLPAIPNLFPELCGPGSPPV	2.0	5.0	unscreened	-	3713_7:50737501-50737501 G>A_QFRTSSLPAIPNLFPELCGPGSPPV
5:35065777-35065777 G>A	0.0	3713	MELANOMA	-	-	-	-	PRLR	ENST00000382002,p.S428F|ENST00000511486,p.S327F|NM_001204314,p.S327F|ENST00000342362,p.S327F|uc003jjl.4,p.S327F|NM_000949,p.S428F|uc003jjm.3,p.S428F	protein_coding, processed_transcript, nonsense_mediated_decay	uc003jjm.3	nonsynonymous SNV	exon10	c.C1283T	p.S428F	WPLPQPSQHNPRSSYHNITDVCELA	WPLPQPSQHNPRFSYHNITDVCELA	1.0	10.0	unscreened	-	3713_5:35065777-35065777 G>A_WPLPQPSQHNPRFSYHNITDVCELA
10:50189487-50189487 A>G	0.0	3713	MELANOMA	-	-	-	-	WDFY4	ENST00000325239,p.K3151R|uc001jha.4,p.K3151R|NM_020945,p.K3151R	protein_coding, processed_transcript	uc001jha.4	nonsynonymous SNV	exon61	c.A9452G	p.K3151R	LDVSIALTGKPSKTSPAVTALAVSR	LDVSIALTGKPSRTSPAVTALAVSR	3.0	4.0	unscreened	-	3713_10:50189487-50189487 A>G_LDVSIALTGKPSRTSPAVTALAVSR
8:139160840-139160840 G>A	0.0	3713	MELANOMA	-	-	-	2	FAM135B	uc003yuy.3,p.P1124L|uc003yva.3,p.P686L|uc003yux.3,p.P1025L|NM_015912,p.P1124L|ENST00000395297,p.P1124L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yva.3	nonsynonymous SNV	exon2	c.C2057T	p.P686L	LYSDLTVLASDIPYFPPEEEEENLE	LYSDLTVLASDILYFPPEEEEENLE	1.0	1.0	unscreened	-	3713_8:139160840-139160840 G>A_LYSDLTVLASDILYFPPEEEEENLE
2:234526786-234526786 G>A	0.0	3713	MELANOMA	-	-	-	-	UGT1A8	uc002vup.3,p.V145M|uc010zmv.1,p.V145M|NM_019076,p.V145M|ENST00000373450,p.V145M	protein_coding	uc010zmv.1	nonsynonymous SNV	exon1	c.G433A	p.V145M	LVEYLKESSFDAVFLDPFDACGLIV	LVEYLKESSFDAMFLDPFDACGLIV	1.0	8.0	unscreened	-	3713_2:234526786-234526786 G>A_LVEYLKESSFDAMFLDPFDACGLIV
1:180914573-180914573 G>A	1.0	3713	MELANOMA	-	-	-	-	KIAA1614	NM_020950,p.G1141E|uc001gom.1,p.G232E|ENST00000367587,p.G762E|ENST00000367588,p.G1141E|uc001gok.2,p.G1141E|uc001gol.1,p.G762E	protein_coding, processed_transcript	uc001gom.1	nonsynonymous SNV	exon5	c.G695A	p.G232E	DGTSQLQLQRSPGGTFGFCVASGNG	DGTSQLQLQRSPEGTFGFCVASGNG	1.0	9.0	unscreened	-	3713_1:180914573-180914573 G>A_DGTSQLQLQRSPEGTFGFCVASGNG
12:53227716-53227716 G>A	0.0	3713	MELANOMA	-	-	-	-	KRT79	ENST00000330553,p.P110L|NM_175834,p.P110L|uc001sbb.3,p.P110L	retained_intron, protein_coding	uc001sbb.3	nonsynonymous SNV	exon1	c.C329T	p.P110L	QGAGRQTFGPACPPGGIQEVTVNQS	QGAGRQTFGPACLPGGIQEVTVNQS	1.0	8.0	unscreened	-	3713_12:53227716-53227716 G>A_QGAGRQTFGPACLPGGIQEVTVNQS
11:64564647-64564647 G>A	1.0	3713	MELANOMA	-	-	-	-	MAP4K2	ENST00000294066,p.P432S|uc001obh.3,p.P432S|NM_004579,p.P432S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001obh.3	nonsynonymous SNV	exon19	c.C1294T	p.P432S	PLSSPPGTLPPPPSGPNSSPLLPTA	PLSSPPGTLPPPSSGPNSSPLLPTA	6.0	1.0	unscreened	-	3713_11:64564647-64564647 G>A_PLSSPPGTLPPPSSGPNSSPLLPTA
6:32184754-32184754 G>A	0.0	3713	MELANOMA	-	-	-	-	NOTCH4	NM_004557,p.A610V|ENST00000375023,p.A610V|uc003obb.3,p.A610V	retained_intron, protein_coding, processed_transcript	uc003obb.3	nonsynonymous SNV	exon11	c.C1829T	p.A610V	CPVGASCLDLPGAFFCLCPSGFTGQ	CPVGASCLDLPGVFFCLCPSGFTGQ	7.0	8.0	unscreened	-	3713_6:32184754-32184754 G>A_CPVGASCLDLPGVFFCLCPSGFTGQ
16:49672168-49672168 G>A	0.0	3713	MELANOMA	-	-	-	-	ZNF423	ENST00000561648,p.H299Y|NM_015069,p.H299Y|ENST00000562871,p.H239Y|ENST00000262383,p.H299Y|uc031qwe.1,p.H239Y|NM_001271620,p.H239Y|ENST00000562520,p.H239Y|uc010vgn.3,p.H182Y|ENST00000535559,p.H182Y|ENST00000567169,p.H182Y|uc031qwd.1,p.H299Y|ENST00000563137,p.H239Y	retained_intron, protein_coding	uc031qwe.1	nonsynonymous SNV	exon4	c.C715T	p.H239Y	PQLSEKADLQCIHCPEVFVDENTLL	PQLSEKADLQCIYCPEVFVDENTLL	1.0	7.0	unscreened	-	3713_16:49672168-49672168 G>A_PQLSEKADLQCIYCPEVFVDENTLL
5:35763637-35763637 C>T	0.0	3713	MELANOMA	-	-	-	-	SPEF2	ENST00000356031,p.P1212S|ENST00000440995,p.P1207S|uc003jjo.3,p.P1212S|NM_024867,p.P1212S|uc003jjp.1,p.P698S	retained_intron, protein_coding, nonsense_mediated_decay	uc003jjp.1	nonsynonymous SNV	exon16	c.C2092T	p.P698S	DNSESQLRIPLVPRISISLETVTPK	DNSESQLRIPLVSRISISLETVTPK	1.0	10.0	unscreened	-	3713_5:35763637-35763637 C>T_DNSESQLRIPLVSRISISLETVTPK
6:152473255-152473255 C>T	1.0	3713	MELANOMA	-	-	-	-	SYNE1	ENST00000265368,p.E8051K|uc003qoq.4,p.E253K|NM_033071,p.E7980K|uc003qos.4,p.E2575K|uc003qou.4,p.E8051K|ENST00000539504,p.E206K|ENST00000367255,p.E8051K|ENST00000367257,p.E697K|ENST00000448038,p.E7980K|ENST00000423061,p.E7980K|uc003qor.4,p.E951K|ENST00000354674,p.E206K|ENST00000341594,p.E7663K|uc011eez.2,p.E253K|ENST00000367251,p.E973K|ENST00000356820,p.E2575K|NM_182961,p.E8051K|uc003qot.4,p.E7980K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011eez.2	nonsynonymous SNV	exon7	c.G757A	p.E253K	LKKFEAFQRQVHECLTQLELINKQY	LKKFEAFQRQVHKCLTQLELINKQY	7.0	1.0	unscreened	-	3713_6:152473255-152473255 C>T_LKKFEAFQRQVHKCLTQLELINKQY
4:155410794-155410794 C>T	0.0	3713	MELANOMA	-	-	-	-	DCHS2	ENST00000339452,p.D572N|ENST00000456341,p.D565N|NM_001142552,p.D572N|ENST00000443500,p.D572N|uc003inx.2,p.D572N|uc011cik.1,p.D572N	protein_coding, processed_transcript	uc011cik.1	nonsynonymous SNV	exon1	c.G1714A	p.D572N	WVSASDADEAGSDHAWLRYTVVQLS	WVSASDADEAGSNHAWLRYTVVQLS	2.0	7.0	unscreened	-	3713_4:155410794-155410794 C>T_WVSASDADEAGSNHAWLRYTVVQLS
20:30602812-30602812 C>T	0.0	3713	MELANOMA	-	-	-	-	CCM2L	ENST00000262659,p.P46S|uc002wxf.2,p.P46S|NM_080625,p.P46S|ENST00000300415,p.P46S	protein_coding	uc002wxf.2	nonsynonymous SNV	exon2	c.C136T	p.P46S	VSRRPLHSMPLYPPDYLIDPQILLC	VSRRPLHSMPLYSPDYLIDPQILLC	2.0	10.0	unscreened	-	3713_20:30602812-30602812 C>T_VSRRPLHSMPLYSPDYLIDPQILLC
6:13327103-13327103 G>A	1.0	3713	MELANOMA	-	-	ID=COSM1073471;OCCURENCE=1(endometrium)	-	TBC1D7	ENST00000420456,p.R10C|ENST00000356436,p.R10C|NM_001143964,p.R10C|ENST00000450347,p.R10C|ENST00000607658,p.R10C|uc003naq.3,p.R10C|uc003nal.3,p.R10C|ENST00000452989,p.R10C|ENST00000446018,p.R10C|ENST00000343141,p.R10C|NM_001143965,p.R10C|uc003nan.3,p.R10C|ENST00000379307,p.R10C|ENST00000428109,p.R10C|uc003nam.3,p.R10C|ENST00000422136,p.R10C|ENST00000607230,p.R10C|ENST00000416436,p.R10C|ENST00000421203,p.R10C|uc003nao.3,p.R10C|ENST00000379300,p.R10C|uc010jpd.4,p.R10C|NM_001143966,p.R10C|ENST00000606370,p.R10C|ENST00000606541,p.R10C|ENST00000379291,p.R10C|uc003naj.3,p.R10C|NM_016495,p.R10C|ENST00000606214,p.R10C|NM_001258457,p.R10C	protein_coding	uc010jpd.4	nonsynonymous SNV	exon2	c.C28T	p.R10C	MTEDSQRNFRSVYYEKVGFRGV	MTEDSQRNFCSVYYEKVGFRGV	4.0	1.0	unscreened	-	3713_6:13327103-13327103 G>A_MTEDSQRNFCSVYYEKVGFRGV
11:2334972-2334972 C>T	0.0	3713	MELANOMA	-	-	-	-	TSPAN32	uc001lwc.1,p.A93V|uc009ydk.1,p.A158V|ENST00000446063,p.A148V|ENST00000182290,p.A148V|uc001lvz.1,p.A118V|NM_139022,p.A148V|uc010qxk.2,p.A183V|ENST00000451520,p.A137V|uc001lwb.1,p.A118V|ENST00000381117,p.A93V|ENST00000381121,p.A148V|uc001lvy.1,p.A148V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qxk.2	nonsynonymous SNV	exon5	c.C548T	p.A183V	KGTSHVRRQELAAIQDVFLCCGKKS	KGTSHVRRQELAVIQDVFLCCGKKS	3.0	7.0	unscreened	-	3713_11:2334972-2334972 C>T_KGTSHVRRQELAVIQDVFLCCGKKS
3:164710168-164710168 G>A	0.0	3713	MELANOMA	-	-	-	-	SI	NM_001041,p.P1620L|ENST00000264382,p.P1620L|uc003fei.3,p.P1620L	retained_intron, protein_coding, nonsense_mediated_decay	uc003fei.3	nonsynonymous SNV	exon42	c.C4859T	p.P1620L	IRPLLHEFFDEKPTWDIFKQFLWGP	IRPLLHEFFDEKLTWDIFKQFLWGP	1.0	2.0	unscreened	-	3713_3:164710168-164710168 G>A_IRPLLHEFFDEKLTWDIFKQFLWGP
3:138724422-138724422 G>A	0.0	3713	MELANOMA	-	-	-	-	PRR23A	NM_001134659,p.P230L|uc011bms.2,p.P230L|ENST00000383163,p.P230L	protein_coding	uc011bms.2	nonsynonymous SNV	exon1	c.C689T	p.P230L	PEFRLLEPVPSSPLQPLPPSPRVGS	PEFRLLEPVPSSLLQPLPPSPRVGS	1.0	9.0	unscreened	-	3713_3:138724422-138724422 G>A_PEFRLLEPVPSSLLQPLPPSPRVGS
21:32119366-32119366 C>T	0.0	3713	MELANOMA	-	-	-	-	KRTAP21-2	ENST00000333892,p.G52E|NM_181617,p.G52E|uc011adh.2,p.G52E	protein_coding	uc011adh.2	nonsynonymous SNV	exon1	c.G155A	p.G52E	GSGYGTGCGYGCGYGSGCGYGCGYS	GSGYGTGCGYGCEYGSGCGYGCGYS	1.0	7.0	unscreened	-	3713_21:32119366-32119366 C>T_GSGYGTGCGYGCEYGSGCGYGCGYS
11:4843466-4843466 C>T	0.0	3713	MELANOMA	-	-	-	-	OR51F2	ENST00000322110,p.P284L|NM_001004753,p.P284L|uc010qyn.2,p.P284L	protein_coding	uc010qyn.2	nonsynonymous SNV	exon1	c.C851T	p.P284L	LSLVHRYGHSAPPFVHIIMANVFLL	LSLVHRYGHSAPLFVHIIMANVFLL	1.0	2.0	unscreened	-	3713_11:4843466-4843466 C>T_LSLVHRYGHSAPLFVHIIMANVFLL
20:9440415-9440415 C>T	1.0	3713	MELANOMA	-	-	-	-	PLCB4	uc021wam.1,p.A1057V|uc002wnh.3,p.A904V|NM_001172646,p.A1069V|ENST00000378501,p.A1057V|uc021wal.1,p.A1057V|uc010gbx.3,p.A1069V|NM_182797,p.A1057V|ENST00000378493,p.A1057V|ENST00000414679,p.A1069V|ENST00000334005,p.A1057V|ENST00000278655,p.A1057V|NM_000933,p.A1057V|ENST00000378473,p.A1069V	protein_coding, processed_transcript	uc021wam.1	nonsynonymous SNV	exon31	c.C3170T	p.A1057V	QQCELLKKLLINAHEQQTQQLKLSH	QQCELLKKLLINVHEQQTQQLKLSH	1.0	9.0	-	-	3713_20:9440415-9440415 C>T_QQCELLKKLLINVHEQQTQQLKLSH
19:5866992-5866992 C>T	0.0	3713	MELANOMA	-	-	-	-	FUT5	uc010duo.3,p.E249K|uc002mdo.4,p.E249K|ENST00000588525,p.E249K|NM_002034,p.E249K|uc021uno.1,p.E249K|ENST00000252675,p.E249K	protein_coding	uc021uno.1	nonsynonymous SNV	exon1	c.G745A	p.E249K	RSHKPLPKGTMMETLSRYKFYLAFE	RSHKPLPKGTMMKTLSRYKFYLAFE	1.0	9.0	unscreened	-	3713_19:5866992-5866992 C>T_RSHKPLPKGTMMKTLSRYKFYLAFE
18:53263387-53263387 G>A	0.0	3713	MELANOMA	-	-	-	-	TCF4	ENST00000565124,p.P89L|uc021uko.2,p.P24L|uc021ukp.1,p.P89L	retained_intron, protein_coding, processed_transcript	uc021ukp.1	nonsynonymous SNV	exon2	c.C266T	p.P89L	QWHHLSSLQPPPPRFKLSSCLSLLS	QWHHLSSLQPPPLRFKLSSCLSLLS	5.0	1.0	unscreened	-	3713_18:53263387-53263387 G>A_QWHHLSSLQPPPLRFKLSSCLSLLS
4:87696448-87696448 C>T	0.0	3713	MELANOMA	-	-	-	1	PTPN13	NM_006264,p.P1859L|uc003hqa.3,p.P1859L|uc003hpz.3,p.P1878L|NM_080684,p.P1687L|NM_080685,p.P1883L|ENST00000511467,p.P1883L|ENST00000316707,p.P1687L|uc003hqb.3,p.P1687L|ENST00000436978,p.P1883L|uc003hqc.1,p.P244L|ENST00000427191,p.P1859L|ENST00000411767,p.P1878L|NM_080683,p.P1878L|uc003hpy.3,p.P1883L	retained_intron, protein_coding	uc003hqc.1	nonsynonymous SNV	exon6	c.C731T	p.P244L	GRVLELPRIPMLPHLLPDITLTCNK	GRVLELPRIPMLLHLLPDITLTCNK	4.0	5.0	unscreened	-	3713_4:87696448-87696448 C>T_GRVLELPRIPMLLHLLPDITLTCNK
16:20681184-20681184 G>A	0.0	3713	MELANOMA	-	-	-	-	ACSM1	ENST00000520010,p.H293Y|NM_052956,p.H293Y|ENST00000307493,p.H293Y|uc010bwg.1,p.H293Y|uc002dhm.1,p.H293Y	retained_intron, protein_coding, nonsense_mediated_decay	uc010bwg.1	nonsynonymous SNV	exon6	c.C877T	p.H293Y	EPWTAGCTVFIHHLPQFDTKVIIQT	EPWTAGCTVFIHYLPQFDTKVIIQT	1.0	2.0	unscreened	-	3713_16:20681184-20681184 G>A_EPWTAGCTVFIHYLPQFDTKVIIQT
6:86322616-86322616 G>A	1.0	3713	MELANOMA	-	-	-	-	SYNCRIP	uc003pku.3,p.P557L|NM_001159676,p.P557L	protein_coding, nonsense_mediated_decay	uc003pku.3	nonsynonymous SNV	exon11	c.C1670T	p.P557L	QRGRGGKGVEAGPDLLQ	QRGRGGKGVEAGLDLLQ	8.0	10.0	unscreened	-	3713_6:86322616-86322616 G>A_QRGRGGKGVEAGLDLLQ
2:173659829-173659829 C>T	0.0	3713	MELANOMA	-	-	-	-	RAPGEF4	ENST00000264111,p.H48Y|ENST00000397081,p.H48Y|ENST00000409036,p.H48Y|NM_007023,p.H48Y|uc002uhv.4,p.H48Y|uc002uhu.2,p.H48Y|uc010fqn.3,p.H31Y	retained_intron, protein_coding, processed_transcript	uc010fqn.3	nonsynonymous SNV	exon2	c.C91T	p.H31Y	TRLKEVKAFEKFHPNLLHQICLCGY	TRLKEVKAFEKFYPNLLHQICLCGY	1.0	7.0	unscreened	-	3713_2:173659829-173659829 C>T_TRLKEVKAFEKFYPNLLHQICLCGY
3:402002-402002 G>A	0.0	3713	MELANOMA	-	-	-	-	CHL1	NM_006614,p.E401K|uc003bot.3,p.E401K|uc003bow.2,p.E385K|uc011asi.2,p.E401K|NM_001253387,p.E385K|ENST00000256509,p.E401K|ENST00000397491,p.E385K|NM_001253388,p.E401K|uc003bou.3,p.E385K	protein_coding, processed_transcript, nonsense_mediated_decay	uc011asi.2	nonsynonymous SNV	exon10	c.G1201A	p.E401K	NHPFAGDVVFPREISFTNLQPNHTA	NHPFAGDVVFPRKISFTNLQPNHTA	4.0	9.0	unscreened	-	3713_3:402002-402002 G>A_NHPFAGDVVFPRKISFTNLQPNHTA
19:16268230-16268230 G>A	0.0	3713	MELANOMA	-	-	-	-	HSH2D	ENST00000593154,p.E229K|uc002ndr.3,p.E172K|ENST00000588246,p.E229K	protein_coding, nonsense_mediated_decay	uc002ndr.3	nonsynonymous SNV	exon6	c.G514A	p.E172K	VRQQLKKPPRHCELVVTLGCPEIHG	VRQQLKKPPRHCKLVVTLGCPEIHG	6.0	3.0	unscreened	-	3713_19:16268230-16268230 G>A_VRQQLKKPPRHCKLVVTLGCPEIHG
6:55360230-55360230 A>C	1.0	3713	MELANOMA	-	-	-	-	HMGCLL1	NM_001287746,p.L162R|uc010jzx.3,p.L162R|ENST00000370850,p.L158R|uc003pco.3,p.L261R|NM_001287741,p.L229R|NM_001287753,p.L158R|NM_001042406,p.L261R|uc011dxd.2,p.L158R|uc011dxc.2,p.L229R|NM_019036,p.L291R|ENST00000398661,p.L291R|ENST00000308161,p.L229R|ENST00000274901,p.L261R|uc003pcn.3,p.L291R	protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxd.2	nonsynonymous SNV	exon4	c.T473G	p.L158R	CHDTYGQALANILTALQMGINVVDS	CHDTYGQALANIRTALQMGINVVDS	1.0	10.0	unscreened	-	3713_6:55360230-55360230 A>C_CHDTYGQALANIRTALQMGINVVDS
9:113197602-113197602 C>T	1.0	3713	MELANOMA	-	-	-	-	SVEP1	uc010mtz.3,p.G1603R|ENST00000374469,p.G1580R|ENST00000401783,p.G1603R|NM_153366,p.G1603R	protein_coding, processed_transcript	uc010mtz.3	nonsynonymous SNV	exon29	c.G4807A	p.G1603R	SLATSCPEELSKGNVLAWPDFLSGI	SLATSCPEELSKRNVLAWPDFLSGI	2.0	8.0	-	-	3713_9:113197602-113197602 C>T_SLATSCPEELSKRNVLAWPDFLSGI
9:127217225-127217225 C>T	0.0	3713	MELANOMA	-	-	-	-	PSMB7,NR5A1	ENST00000334810,p.P423L|uc010mwn.3,p.P423L	protein_coding	uc010mwn.3	nonsynonymous SNV	exon7	c.C1268T	p.P423L	GLLEHVLAMEMAPLGPAALLAVVRF	GLLEHVLAMEMALLGPAALLAVVRF	1.0	1.0	unscreened	-	3713_9:127217225-127217225 C>T_GLLEHVLAMEMALLGPAALLAVVRF
1:77528794-77528794 A>G	0.0	3713	MELANOMA	-	-	-	-	ST6GALNAC5	ENST00000477717,p.K305R|NM_030965,p.K305R|uc001dhi.3,p.K305R	protein_coding, processed_transcript, nonsense_mediated_decay	uc001dhi.3	nonsynonymous SNV	exon5	c.A914G	p.K305R	SHHRFITEKRVFKNWARTFNIHFFQ	SHHRFITEKRVFRNWARTFNIHFFQ	3.0	10.0	unscreened	-	3713_1:77528794-77528794 A>G_SHHRFITEKRVFRNWARTFNIHFFQ
19:1003468-1003468 C>T	0.0	3713	MELANOMA	-	-	-	-	GRIN3B	uc002lqo.1,p.P256S|ENST00000234389,p.P256S|NM_138690,p.P256S	protein_coding, processed_transcript	uc002lqo.1	nonsynonymous SNV	exon2	c.C766T	p.P256S	RARRVLEAVPPGPHWLLGTPLPPKA	RARRVLEAVPPGSHWLLGTPLPPKA	1.0	2.0	unscreened	-	3713_19:1003468-1003468 C>T_RARRVLEAVPPGSHWLLGTPLPPKA
1:232941155-232941155 C>T	0.0	3713	MELANOMA	-	-	-	-	MAP10	NM_019090,p.S129L|ENST00000418460,p.S129L|uc001hvh.2,p.S129L	protein_coding	uc001hvh.2	nonsynonymous SNV	exon1	c.C386T	p.S129L	LRFLVRPRGFSFSFAEPAAAFPGAT	LRFLVRPRGFSFLFAEPAAAFPGAT	1.0	4.0	unscreened	-	3713_1:232941155-232941155 C>T_LRFLVRPRGFSFLFAEPAAAFPGAT
20:46265115-46265115 C>T	1.0	3713	MELANOMA	-	-	-	-	NCOA3	NM_006534,p.S662F|ENST00000341724,p.S672F|ENST00000371998,p.S662F|ENST00000372004,p.S662F|ENST00000371997,p.S672F|NM_181659,p.S662F|NM_001174087,p.S662F|uc010ght.2,p.S672F|uc002xtk.3,p.S662F|uc002xtm.3,p.S662F|uc002xtl.3,p.S662F|NM_001174088,p.S672F|uc010zyc.2,p.S457F|uc002xtn.3,p.S662F	protein_coding, processed_transcript	uc010zyc.2	nonsynonymous SNV	exon7	c.C1370T	p.S457F	SVSVTSPSGVSSSTSGGVSSTSNMH	SVSVTSPSGVSSFTSGGVSSTSNMH	8.0	5.0	-	-	3713_20:46265115-46265115 C>T_SVSVTSPSGVSSFTSGGVSSTSNMH
1:196658693-196658693 G>A	0.0	3713	MELANOMA	-	-	-	-	CFH	ENST00000359637,p.D306N|uc009wyx.3,p.D306N|uc009wyw.3,p.D345N|NM_000186,p.D370N|ENST00000439155,p.D370N|NM_001014975,p.D370N|uc001gti.4,p.D370N|ENST00000367429,p.D370N|uc001gtj.4,p.D370N	retained_intron, protein_coding, ambiguous_orf	uc009wyx.3	nonsynonymous SNV	exon7	c.G916A	p.D306N	DEHFETPSGSYWDHIHCTQDGWSPA	DEHFETPSGSYWNHIHCTQDGWSPA	8.0	1.0	unscreened	-	3713_1:196658693-196658693 G>A_DEHFETPSGSYWNHIHCTQDGWSPA
7:120935629-120935629 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1548033;OCCURENCE=1(lung)	-	CPED1	NM_024913,p.H1002Y|uc003vjq.4,p.H1002Y|ENST00000310396,p.H1002Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc003vjq.4	nonsynonymous SNV	exon23	c.C3004T	p.H1002Y	QQGTVTNFRSPYHVRGPINQVCSEI	QQGTVTNFRSPYYVRGPINQVCSEI	3.0	1.0	-	-	3713_7:120935629-120935629 C>T_QQGTVTNFRSPYYVRGPINQVCSEI
13:84455252-84455252 C>T	0.0	3713	MELANOMA	-	-	-	-	SLITRK1	NM_052910,p.D131N|ENST00000377084,p.D131N|NM_001281503,p.D131N|uc001vlk.3,p.D131N	protein_coding	uc001vlk.3	nonsynonymous SNV	exon1	c.G391A	p.D131N	KSFRKQTFLGLDDLEYLQADFNLLR	KSFRKQTFLGLDNLEYLQADFNLLR	1.0	5.0	unscreened	-	3713_13:84455252-84455252 C>T_KSFRKQTFLGLDNLEYLQADFNLLR
8:122641368-122641368 C>T	1.0	3713	MELANOMA	-	-	-	-	HAS2	NM_005328,p.M71I|ENST00000303924,p.M71I|uc003yph.2,p.M71I	protein_coding	uc003yph.2	nonsynonymous SNV	exon2	c.G213A	p.M71I	IQSLFAFLEHRKMKKSLETPIKLNK	IQSLFAFLEHRKIKKSLETPIKLNK	3.0	9.0	unscreened	-	3713_8:122641368-122641368 C>T_IQSLFAFLEHRKIKKSLETPIKLNK
13:36223799-36223799 T>A	1.0	3713	MELANOMA	-	-	-	2	NBEA	uc021ric.1,p.L2569H	protein_coding, processed_transcript	uc021ric.1	nonsynonymous SNV	exon50	c.T7706A	p.L2569H	IEPHPPRSSAMHLCFLPQSPLMFKD	IEPHPPRSSAMHHCFLPQSPLMFKD	3.0	5.0	unscreened	-	3713_13:36223799-36223799 T>A_IEPHPPRSSAMHHCFLPQSPLMFKD
14:20528750-20528750 C>T	0.0	3713	MELANOMA	-	-	-	-	OR4L1	uc001vwn.1,p.L183F|ENST00000315683,p.L183F|NM_001004717,p.L183F	protein_coding	uc001vwn.1	nonsynonymous SNV	exon1	c.C547T	p.L183F	HNVINNIFCDLPLVIKLACIETYTL	HNVINNIFCDLPFVIKLACIETYTL	1.0	8.0	unscreened	-	3713_14:20528750-20528750 C>T_HNVINNIFCDLPFVIKLACIETYTL
6:32184754-32184754 G>A	0.0	3713	MELANOMA	-	-	-	-	NOTCH4	uc003obc.3,p.A610V	retained_intron, protein_coding, processed_transcript	uc003obc.3	nonsynonymous SNV	exon11	c.C1829T	p.A610V	CPVGASCLDLPGAFFCLCPSGFTGS	CPVGASCLDLPGVFFCLCPSGFTGS	7.0	8.0	unscreened	-	3713_6:32184754-32184754 G>A_CPVGASCLDLPGVFFCLCPSGFTGS
1:117564291-117564291 G>A	0.0	3713	MELANOMA	-	-	-	-	CD101	NM_001256109,p.G705E|uc010oxc.2,p.G705E|NM_004258,p.G705E|NM_001256111,p.G643E|NM_001256106,p.G705E|uc010oxd.2,p.G643E|uc010oxb.2,p.G705E|ENST00000369470,p.G705E|ENST00000256652,p.G705E|uc009whd.4,p.G705E	protein_coding, processed_transcript	uc010oxd.2	nonsynonymous SNV	exon7	c.G1928A	p.G643E	TDIECSILSRSNGNLQLAIIWYFSP	TDIECSILSRSNENLQLAIIWYFSP	1.0	4.0	unscreened	-	3713_1:117564291-117564291 G>A_TDIECSILSRSNENLQLAIIWYFSP
6:41708965-41708965 T>A	0.0	3713	MELANOMA	-	-	-	-	PGC	uc021yzm.1,p.R232S|NM_001166424,p.R232S|ENST00000425343,p.R232S	protein_coding	uc021yzm.1	nonsynonymous SNV	exon7	c.A696T	p.R232S	ESSGLGPLLTPSRAAPPSSTLQLPE	ESSGLGPLLTPSSAAPPSSTLQLPE	1.0	1.0	unscreened	-	3713_6:41708965-41708965 T>A_ESSGLGPLLTPSSAAPPSSTLQLPE
1:94487458-94487458 C>T	0.0	3713	MELANOMA	-	-	-	-	ABCA4	ENST00000370225,p.G1573R|uc001dqh.3,p.G1573R|NM_000350,p.G1573R	protein_coding, processed_transcript	uc001dqh.3	nonsynonymous SNV	exon33	c.G4717A	p.G1573R	SIGGKLPVVPITGEALVGFLSDLGR	SIGGKLPVVPITREALVGFLSDLGR	1.0	4.0	unscreened	-	3713_1:94487458-94487458 C>T_SIGGKLPVVPITREALVGFLSDLGR
X:91090519-91090519 G>A	0.0	3713	MELANOMA	-	-	-	-	PCDH11X	ENST00000298274,p.G6R|uc004efj.1,p.G6R|ENST00000504220,p.G6R|ENST00000395337,p.G6R|uc004efn.2,p.G6R|uc004efo.2,p.G6R|uc004efk.2,p.G6R|ENST00000406881,p.G6R|uc010nmv.2,p.G6R|uc004efh.2,p.G6R|NM_001168360,p.G6R|ENST00000361724,p.G6R|ENST00000361655,p.G6R|NM_001168362,p.G6R|NM_001168363,p.G6R|NM_032968,p.G6R|ENST00000373088,p.G6R|NM_032969,p.G6R|uc004efl.2,p.G6R|uc004efm.2,p.G6R|NM_001168361,p.G6R|ENST00000373097,p.G6R|ENST00000373094,p.G6R	protein_coding	uc010nmv.2	nonsynonymous SNV	exon1	c.G16A	p.G6R	MDLLSGTYIFAVLLACVV	MDLLSRTYIFAVLLACVV	1.0	6.0	unscreened	-	3713_X:91090519-91090519 G>A_MDLLSRTYIFAVLLACVV
22:37891972-37891972 T>C	0.0	3713	MELANOMA	-	-	-	-	CARD10	uc011ank.1,p.K18E|uc003asx.1,p.K700E|ENST00000437756,p.K341E|ENST00000251973,p.K700E|ENST00000403299,p.K700E|NM_014550,p.K700E|ENST00000406271,p.K414E|ENST00000433485,p.K172E|uc003asy.1,p.K700E|uc003asw.1,p.K414E	retained_intron, protein_coding, processed_transcript	uc011ank.1	nonsynonymous SNV	exon2	c.A52G	p.K18E	CQSFHEALEAWAKGPGAEPFYIRAN	CQSFHEALEAWAEGPGAEPFYIRAN	2.0	2.0	unscreened	-	3713_22:37891972-37891972 T>C_CQSFHEALEAWAEGPGAEPFYIRAN
14:76249651-76249651 C>T	1.0	3713	MELANOMA	-	-	-	-	TTLL5	uc001xrz.3,p.P497S|uc010ask.2,p.P936S|ENST00000298832,p.P922S|ENST00000557636,p.P936S|uc001xrx.3,p.P922S|ENST00000556893,p.P473S|NM_015072,p.P922S|ENST00000554510,p.P431S	retained_intron, protein_coding, processed_transcript	uc010ask.2	nonsynonymous SNV	exon27	c.C2806T	p.P936S	PGPCHHSSLSQIPSAIPSMPHQPTI	PGPCHHSSLSQISSAIPSMPHQPTI	5.0	9.0	-	-	3713_14:76249651-76249651 C>T_PGPCHHSSLSQISSAIPSMPHQPTI
1:157768025-157768025 G>A	0.0	3713	MELANOMA	-	-	-	-	FCRL1	ENST00000368176,p.P347L|ENST00000358292,p.P308L|NM_001159397,p.P308L|NM_052938,p.P347L|NM_001159398,p.P347L|uc001frh.3,p.P347L|uc001frg.3,p.P347L|ENST00000491942,p.P347L|uc001fri.3,p.P308L	protein_coding, processed_transcript	uc001fri.3	nonsynonymous SNV	exon7	c.C923T	p.P308L	GRRSARDPLRSLPSPLPQEFTYLNS	GRRSARDPLRSLLSPLPQEFTYLNS	3.0	9.0	unscreened	-	3713_1:157768025-157768025 G>A_GRRSARDPLRSLLSPLPQEFTYLNS
20:44314568-44314568 C>T	1.0	3713	MELANOMA	-	-	-	-	WFDC10B	ENST00000330523,p.G22R|uc002xpb.3,p.G22R|NM_172006,p.G22R	protein_coding	uc002xpb.3	nonsynonymous SNV	exon3	c.G64A	p.G22R	LVLCVLLLQAQGGYRDKMRMQRIKV	LVLCVLLLQAQGRYRDKMRMQRIKV	1.0	5.0	unscreened	-	3713_20:44314568-44314568 C>T_LVLCVLLLQAQGRYRDKMRMQRIKV
7:123593674-123593674 C>T	0.0	3713	MELANOMA	-	-	-	-	SPAM1	ENST00000223028,p.S17L|uc003vle.3,p.S17L|NM_003117,p.S17L|uc022aks.1,p.S17L|ENST00000340011,p.S17L|uc003vlf.4,p.S17L|uc010lku.3,p.S17L|uc003vld.3,p.S17L|NM_001174046,p.S17L|ENST00000413927,p.S17L|ENST00000460182,p.S17L|ENST00000439500,p.S17L|NM_153189,p.S17L|ENST00000402183,p.S17L|NM_001174044,p.S17L|NM_001174045,p.S17L	protein_coding	uc022aks.1	nonsynonymous SNV	exon3	c.C50T	p.S17L	KFKHIFFRSFVKSSGVSQIVFTFLL	KFKHIFFRSFVKLSGVSQIVFTFLL	1.0	1.0	unscreened	-	3713_7:123593674-123593674 C>T_KFKHIFFRSFVKLSGVSQIVFTFLL
17:40940365-40940365 G>A	1.0	3713	MELANOMA	-	-	-	-	WNK4	uc002ibk.1,p.M432I|NM_032387,p.M660I|uc002ibj.3,p.M660I|ENST00000246914,p.M660I|uc010wgx.2,p.M324I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wgx.2	nonsynonymous SNV	exon9	c.G972A	p.M324I	SGLSDVGEGMGQMRRPPGRNLRRRP	SGLSDVGEGMGQIRRPPGRNLRRRP	7.0	10.0	-	-	3713_17:40940365-40940365 G>A_SGLSDVGEGMGQIRRPPGRNLRRRP
12:48272770-48272770 C>T	1.0	3713	MELANOMA	-	-	-	-	VDR	uc001rqn.3,p.G43S|ENST00000550314,p.G43S|NM_001017536,p.G93S|NM_000376,p.G43S|ENST00000548664,p.G43S|ENST00000395324,p.G43S|uc001rqm.3,p.G43S|ENST00000546653,p.G43S|uc001rql.3,p.G93S|NM_001017535,p.G43S|ENST00000229022,p.G43S|ENST00000550325,p.G93S|ENST00000549336,p.G43S	protein_coding, nonsense_mediated_decay	uc001rqn.3	nonsynonymous SNV	exon3	c.G127A	p.G43S	ATGFHFNAMTCEGCKGFFRRSMKRK	ATGFHFNAMTCESCKGFFRRSMKRK	5.0	4.0	-	-	3713_12:48272770-48272770 C>T_ATGFHFNAMTCESCKGFFRRSMKRK
X:151123973-151123973 G>A	0.0	3713	MELANOMA	-	-	-	-	GABRE	ENST00000370328,p.S335F|uc004ffi.3,p.S335F|NM_004961,p.S335F|ENST00000370325,p.S335F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004ffi.3	nonsynonymous SNV	exon8	c.C1004T	p.S335F	LGTFSRKNFPRVSYITALDFYIAIC	LGTFSRKNFPRVFYITALDFYIAIC	4.0	7.0	unscreened	-	3713_X:151123973-151123973 G>A_LGTFSRKNFPRVFYITALDFYIAIC
9:21201916-21201916 C>T	0.0	3713	MELANOMA	-	-	-	-	IFNA7	uc003zop.1,p.M83I|ENST00000239347,p.M83I|NM_021057,p.M83I	protein_coding	uc003zop.1	nonsynonymous SNV	exon1	c.G249A	p.M83I	FQKTQAISVLHEMIQQTFNLFSTED	FQKTQAISVLHEIIQQTFNLFSTED	1.0	2.0	unscreened	-	3713_9:21201916-21201916 C>T_FQKTQAISVLHEIIQQTFNLFSTED
6:31473645-31473645 G>A	1.0	3713	MELANOMA	-	-	-	-	MICB	uc011dnm.2,p.G76R|ENST00000538442,p.G76R|uc003ntn.4,p.G108R|ENST00000252229,p.G108R|NM_005931,p.G108R|NM_001289160,p.G76R|uc021yuq.1,p.G76R	retained_intron, protein_coding	uc021yuq.1	nonsynonymous SNV	exon2	c.G226A	p.G76R	LRRTLTHIKDQKGGLHSLQEIRVCE	LRRTLTHIKDQKRGLHSLQEIRVCE	6.0	1.0	unscreened	-	3713_6:31473645-31473645 G>A_LRRTLTHIKDQKRGLHSLQEIRVCE
21:39672093-39672093 G>A	0.0	3713	MELANOMA	-	-	-	-	KCNJ15	ENST00000398932,p.E304K|NM_170737,p.E304K|uc031rvl.1,p.E304K|NM_170736,p.E304K|NM_002243,p.E304K|uc002ywv.4,p.E304K|NM_001276436,p.E304K|uc021wjc.1,p.E304K|ENST00000398930,p.E304K|uc002ywx.4,p.E304K|uc031rvk.1,p.E304K|uc002yww.4,p.E304K|NM_001276439,p.E304K|NM_001276435,p.E304K|ENST00000398938,p.E304K|NM_001276438,p.E304K|NM_001276437,p.E304K|ENST00000328656,p.E304K|uc031rvj.1,p.E304K|uc031rvn.1,p.E304K|ENST00000398934,p.E304K|uc031rvm.1,p.E304K	protein_coding	uc031rvn.1	nonsynonymous SNV	exon5	c.G910A	p.E304K	AVCQSRTSYIPEEIYWGFEFVPVVS	AVCQSRTSYIPEKIYWGFEFVPVVS	4.0	7.0	unscreened	-	3713_21:39672093-39672093 G>A_AVCQSRTSYIPEKIYWGFEFVPVVS
17:79496168-79496168 C>T	0.0	3713	MELANOMA	-	-	-	-	FSCN2	uc010wuo.2,p.P204L|ENST00000334850,p.P204L|NM_001077182,p.P204L|NM_012418,p.P204L|uc010wup.2,p.P204L|ENST00000417245,p.P204L	retained_intron, protein_coding	uc010wup.2	nonsynonymous SNV	exon1	c.C611T	p.P204L	RYLRSDGRLVWEPEPRACYTLEFKA	RYLRSDGRLVWELEPRACYTLEFKA	1.0	2.0	unscreened	-	3713_17:79496168-79496168 C>T_RYLRSDGRLVWELEPRACYTLEFKA
3:13383512-13383512 G>A	0.0	3713	MELANOMA	-	-	-	-	NUP210	ENST00000254508,p.P1026S|uc003bxv.1,p.P1026S|NM_024923,p.P1026S	retained_intron, protein_coding, processed_transcript	uc003bxv.1	nonsynonymous SNV	exon22	c.C3076T	p.P1026S	FPFMDLKLRAASPIITLVALDEALD	FPFMDLKLRAASSIITLVALDEALD	3.0	3.0	unscreened	-	3713_3:13383512-13383512 G>A_FPFMDLKLRAASSIITLVALDEALD
7:95157599-95157599 C>T	0.0	3713	MELANOMA	-	-	-	-	ASB4	ENST00000428113,p.P321L|uc003unx.3,p.P321L|NM_145872,p.P321L	protein_coding, processed_transcript	uc003unx.3	nonsynonymous SNV	exon3	c.C962T	p.P321L	QLLLNHGAARIYPPQFHKVRLCPVV	QLLLNHGAARIYLPQFHKVRLCPVV	1.0	8.0	unscreened	-	3713_7:95157599-95157599 C>T_QLLLNHGAARIYLPQFHKVRLCPVV
2:31489307-31489307 G>A	0.0	3713	MELANOMA	-	-	-	-	EHD3	uc002rnu.3,p.D449N|ENST00000322054,p.D449N|NM_014600,p.D449N	protein_coding	uc002rnu.3	nonsynonymous SNV	exon6	c.G1345A	p.D449N	AEWVVARDKPMYDEIFYTLSPVDGK	AEWVVARDKPMYNEIFYTLSPVDGK	3.0	7.0	unscreened	-	3713_2:31489307-31489307 G>A_AEWVVARDKPMYNEIFYTLSPVDGK
7:6071121-6071121 G>A	1.0	3713	MELANOMA	-	-	-	-	ANKRD61	ENST00000409061,p.E39K|NM_001271700,p.E39K|uc031swn.1,p.E39K	protein_coding	uc031swn.1	nonsynonymous SNV	exon1	c.G115A	p.E39K	ALHSKLYEAIMREDCTTIEVLLRNH	ALHSKLYEAIMRKDCTTIEVLLRNH	1.0	6.0	unscreened	-	3713_7:6071121-6071121 G>A_ALHSKLYEAIMRKDCTTIEVLLRNH
5:140735606-140735606 C>T	1.0	3713	MELANOMA	-	-	-	-	PCDHGA4	NM_032053,p.S311F|uc003ljp.1,p.S280F|uc003ljq.2,p.S280F|NM_018917,p.S311F|ENST00000571252,p.S280F	protein_coding	uc003ljq.2	nonsynonymous SNV	exon1	c.C839T	p.S280F	DPDEGANGDVTYSFRKVRDKISQLF	DPDEGANGDVTYFFRKVRDKISQLF	3.0	9.0	unscreened	-	3713_5:140735606-140735606 C>T_DPDEGANGDVTYFFRKVRDKISQLF
11:57799072-57799072 G>A	0.0	3713	MELANOMA	-	-	-	-	OR6Q1	ENST00000302622,p.M216I|uc010rjz.2,p.M216I|NM_001005186,p.M216I	protein_coding	uc010rjz.2	nonsynonymous SNV	exon1	c.G648A	p.M216I	FLVSLAVLLASSMVIAVSYGNIVWT	FLVSLAVLLASSIVIAVSYGNIVWT	1.0	7.0	unscreened	-	3713_11:57799072-57799072 G>A_FLVSLAVLLASSIVIAVSYGNIVWT
18:47788427-47788427 G>A	1.0	3713	MELANOMA	-	-	-	-	CFAP53	ENST00000398545,p.L78F|NM_145020,p.L78F|uc002lee.2,p.L78F	protein_coding	uc002lee.2	nonsynonymous SNV	exon2	c.C232T	p.L78F	WDQHNDCKILDSLVRARIKDAVQGF	WDQHNDCKILDSFVRARIKDAVQGF	1.0	1.0	unscreened	-	3713_18:47788427-47788427 G>A_WDQHNDCKILDSFVRARIKDAVQGF
15:66995928-66995928 G>A	1.0	3713	MELANOMA	-	-	-	-	SMAD6	ENST00000557916,p.G111E|ENST00000288840,p.G111E|ENST00000457357,p.G111E|NM_005585,p.G111E|uc002aqf.3,p.G111E	protein_coding, nonsense_mediated_decay	uc002aqf.3	nonsynonymous SNV	exon1	c.G332A	p.G111E	GAGSSLLDVAEPGGPGWLPESDCET	GAGSSLLDVAEPEGPGWLPESDCET	5.0	8.0	unscreened	-	3713_15:66995928-66995928 G>A_GAGSSLLDVAEPEGPGWLPESDCET
11:62300115-62300115 G>A	1.0	3713	MELANOMA	-	-	-	-	AHNAK	NM_001620,p.P592S|uc001ntl.3,p.P592S|ENST00000378024,p.P592S	protein_coding, processed_transcript	uc001ntl.3	nonsynonymous SNV	exon5	c.C1774T	p.P592S	APKVKGGVDVTLPRVEGKVKVPEVD	APKVKGGVDVTLSRVEGKVKVPEVD	10.0	2.0	-	-	3713_11:62300115-62300115 G>A_APKVKGGVDVTLSRVEGKVKVPEVD
19:7677892-7677892 C>T	0.0	3713	MELANOMA	-	-	-	-	CAMSAP3	NM_001080429,p.A865V|ENST00000160298,p.A838V|uc002mgv.4,p.A838V|ENST00000446248,p.A865V|uc002mgu.4,p.A865V|NM_020902,p.A838V	retained_intron, protein_coding	uc002mgv.4	nonsynonymous SNV	exon11	c.C2513T	p.A838V	ILLAEETPPEEPAARPGLIEIPLGS	ILLAEETPPEEPVARPGLIEIPLGS	1.0	1.0	unscreened	-	3713_19:7677892-7677892 C>T_ILLAEETPPEEPVARPGLIEIPLGS
19:9076059-9076059 G>A	0.0	3713	MELANOMA	-	-	-	2	MUC16	NM_024690,p.S3796F|ENST00000397910,p.S3796F|uc002mkp.3,p.S3796F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C11387T	p.S3796F	TSAVTPAAMARSSGVTFSRPDPTSK	TSAVTPAAMARSFGVTFSRPDPTSK	1.0	4.0	unscreened	-	3713_19:9076059-9076059 G>A_TSAVTPAAMARSFGVTFSRPDPTSK
15:83790674-83790674 G>A	0.0	3713	MELANOMA	-	-	-	-	TM6SF1	NM_023003,p.E134K|ENST00000565982,p.E43K|ENST00000565774,p.E134K|ENST00000379390,p.E134K|ENST00000322019,p.E134K|uc010bmq.3,p.E134K|NM_001144903,p.E134K|uc002bjq.3,p.E134K|uc002bjp.3,p.E134K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010bmq.3	nonsynonymous SNV	exon5	c.G400A	p.E134K	MYLVMVAAIAWEETYRTIGLYWVGS	MYLVMVAAIAWEKTYRTIGLYWVGS	4.0	9.0	unscreened	-	3713_15:83790674-83790674 G>A_MYLVMVAAIAWEKTYRTIGLYWVGS
7:55272964-55272964 C>T	1.0	3713	MELANOMA	-	-	ID=COSM1451619;OCCURENCE=1(large_intestine)	1	EGFR	ENST00000275493,p.S1096F|ENST00000454757,p.S1043F|uc003tqk.3,p.S1096F|uc022adn.1,p.S1051F|uc011kco.2,p.S1043F|NM_005228,p.S1096F	retained_intron, protein_coding, processed_transcript	uc022adn.1	nonsynonymous SNV	exon27	c.C3152T	p.S1051F	DTFLPVPEYINQSVPKRPAGSVQNP	DTFLPVPEYINQFVPKRPAGSVQNP	2.0	3.0	-	-	3713_7:55272964-55272964 C>T_DTFLPVPEYINQFVPKRPAGSVQNP
2:125530442-125530442 C>T	0.0	3713	MELANOMA	-	-	-	-	CNTNAP5	uc010flu.3,p.P867L|NM_130773,p.P866L|ENST00000431078,p.P866L|uc002tno.3,p.P866L	retained_intron, protein_coding, processed_transcript	uc010flu.3	nonsynonymous SNV	exon17	c.C2600T	p.P867L	VGNGPVELVVQSPSLLNDNQWHYVR	VGNGPVELVVQSLSLLNDNQWHYVR	1.0	10.0	unscreened	-	3713_2:125530442-125530442 C>T_VGNGPVELVVQSLSLLNDNQWHYVR
7:95157599-95157599 C>T	0.0	3713	MELANOMA	-	-	-	-	ASB4	ENST00000325885,p.P321L|uc011kij.2,p.P321L|NM_016116,p.P321L	protein_coding, processed_transcript	uc011kij.2	nonsynonymous SNV	exon3	c.C962T	p.P321L	QLLLNHGAARIYPPQFHKVIQACHS	QLLLNHGAARIYLPQFHKVIQACHS	1.0	8.0	unscreened	-	3713_7:95157599-95157599 C>T_QLLLNHGAARIYLPQFHKVIQACHS
8:39872928-39872928 G>A	0.0	3713	MELANOMA	-	-	-	-	IDO2	NM_194294,p.R357Q|ENST00000502986,p.R357Q|uc010lwy.1,p.R357Q|uc003xnp.1,p.R98Q|ENST00000389060,p.R344Q|uc010lwz.1,p.R98Q	protein_coding, processed_transcript	uc010lwz.1	nonsynonymous SNV	exon7	c.G293A	p.R98Q	AYNQCVQALAELRSYHITMVTKYLI	AYNQCVQALAELQSYHITMVTKYLI	1.0	2.0	unscreened	-	3713_8:39872928-39872928 G>A_AYNQCVQALAELQSYHITMVTKYLI
2:241830976-241830976 G>A	0.0	3713	MELANOMA	-	-	-	-	C2orf54	NM_024861,p.P72L|NM_001282921,p.P91L|uc002wad.3,p.P91L|NM_001085437,p.P240L|ENST00000402775,p.P72L|ENST00000388934,p.P240L|uc002wae.4,p.P240L|uc002wac.3,p.P72L|ENST00000307486,p.P91L	protein_coding	uc002wae.4	nonsynonymous SNV	exon2	c.C719T	p.P240L	LRRILSQGVDLVPASAQLWRTSTDY	LRRILSQGVDLVLASAQLWRTSTDY	1.0	10.0	unscreened	-	3713_2:241830976-241830976 G>A_LRRILSQGVDLVLASAQLWRTSTDY
11:4790757-4790757 G>A	0.0	3713	MELANOMA	-	-	-	-	OR51F1	ENST00000380383,p.P138S|uc010qyl.2,p.P131S|ENST00000343430,p.P131S|NM_001004752,p.P131S	protein_coding	uc010qyl.2	nonsynonymous SNV	exon1	c.C391T	p.P131S	ATAFDRYVAICDPLRYTTILTNSRI	ATAFDRYVAICDSLRYTTILTNSRI	1.0	3.0	unscreened	-	3713_11:4790757-4790757 G>A_ATAFDRYVAICDSLRYTTILTNSRI
20:61444301-61444301 A>G	1.0	3713	MELANOMA	-	-	-	-	OGFR	ENST00000370461,p.Q393R|NM_007346,p.Q445R|uc002ydl.3,p.Q393R|uc002ydk.3,p.Q428R|uc002ydj.3,p.Q445R|ENST00000290291,p.Q445R	protein_coding	uc002ydl.3	nonsynonymous SNV	exon5	c.A1178G	p.Q393R	GQDPGEAVQPCRQPLGARVADKVRK	GQDPGEAVQPCRRPLGARVADKVRK	9.0	10.0	-	-	3713_20:61444301-61444301 A>G_GQDPGEAVQPCRRPLGARVADKVRK
16:84066964-84066964 G>A	0.0	3713	MELANOMA	-	-	-	-	SLC38A8	NM_001080442,p.P167S|uc002fhg.1,p.P167S|ENST00000299709,p.P167S|ENST00000568178,p.P167S	retained_intron, protein_coding	uc002fhg.1	nonsynonymous SNV	exon3	c.C499T	p.P167S	LLSVLVILPLSAPREIAFQKYTSIL	LLSVLVILPLSASREIAFQKYTSIL	1.0	8.0	unscreened	-	3713_16:84066964-84066964 G>A_LLSVLVILPLSASREIAFQKYTSIL
4:70351077-70351077 C>T	0.0	3713	MELANOMA	-	-	-	-	UGT2B4	ENST00000381096,p.G251R|NM_001297616,p.G251R|uc011cap.2,p.G251R|ENST00000305107,p.G387R|uc003hek.4,p.G387R|NM_021139,p.G387R	protein_coding, processed_transcript	uc011cap.2	nonsynonymous SNV	exon6	c.G751A	p.G251R	GGANGIYEAIYHGIPMVGVPLFADQ	GGANGIYEAIYHRIPMVGVPLFADQ	1.0	9.0	unscreened	-	3713_4:70351077-70351077 C>T_GGANGIYEAIYHRIPMVGVPLFADQ
10:56077164-56077164 G>A	0.0	3713	MELANOMA	-	-	-	-	PCDH15	uc010qib.1,p.T226I|ENST00000395432,p.T211I|uc001jju.1,p.T248I|uc010qhr.2,p.T248I|NM_001142773,p.T226I|uc010qhx.1,p.T248I|uc010qhz.1,p.T248I|uc010qhw.1,p.T211I|uc001jjw.3,p.T248I|uc010qhq.2,p.T253I|NM_001142763,p.T253I|ENST00000448885,p.T248I|uc021pqz.1,p.T226I|NM_001142765,p.T248I|NM_001142767,p.T211I|ENST00000361849,p.T248I|uc001jjv.1,p.T226I|NM_033056,p.T248I|NM_001142768,p.T226I|ENST00000395438,p.T248I|NM_001142766,p.T248I|ENST00000373965,p.T248I|ENST00000437009,p.T248I|NM_001142764,p.T248I|ENST00000414367,p.T248I|ENST00000373957,p.T226I|ENST00000395445,p.T248I|uc021pqy.1,p.T248I|ENST00000395433,p.T226I|ENST00000395442,p.T248I|uc010qht.2,p.T248I|uc010qia.1,p.T226I|ENST00000395440,p.T248I|uc021pqw.1,p.T253I|ENST00000395430,p.T248I|ENST00000373955,p.T248I|uc010qhv.1,p.T248I|ENST00000414778,p.T253I|ENST00000320301,p.T248I|uc021pqv.1,p.T248I|uc010qhy.1,p.T253I|ENST00000395446,p.T248I|uc021pqx.1,p.T248I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqz.1	nonsynonymous SNV	exon6	c.C677T	p.T226I	DRAQNLNERRTTTTTLTVDVLDGDD	DRAQNLNERRTTITTLTVDVLDGDD	1.0	7.0	unscreened	-	3713_10:56077164-56077164 G>A_DRAQNLNERRTTITTLTVDVLDGDD
5:40936586-40936586 G>A	0.0	3713	MELANOMA	-	-	-	-	C7	ENST00000313164,p.G143S|NM_000587,p.G143S|uc003jmh.3,p.G143S	retained_intron, protein_coding, processed_transcript	uc003jmh.3	nonsynonymous SNV	exon5	c.G427A	p.G143S	DKPPPNIELTGNGYNELTGQFRNRV	DKPPPNIELTGNSYNELTGQFRNRV	7.0	3.0	unscreened	-	3713_5:40936586-40936586 G>A_DKPPPNIELTGNSYNELTGQFRNRV
7:82476534-82476534 G>A	1.0	3713	MELANOMA	-	-	-	-	PCLO	uc003uhv.2,p.P4562S|uc003uhx.2,p.P4562S|ENST00000423517,p.P4562S|NM_033026,p.P4562S|NM_014510,p.P4562S|uc003uht.1,p.P13S|ENST00000333891,p.P4562S	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon11	c.C13684T	p.P4562S	MEGMQVLEWNGIPLTSKTYEEVQSI	MEGMQVLEWNGISLTSKTYEEVQSI	2.0	9.0	unscreened	-	3713_7:82476534-82476534 G>A_MEGMQVLEWNGISLTSKTYEEVQSI
11:48347288-48347288 G>A	0.0	3713	MELANOMA	-	-	-	-	OR4C3	uc010rhv.2,p.G266R|NM_001004702,p.G266R|ENST00000319856,p.G266R	protein_coding	uc010rhv.2	nonsynonymous SNV	exon1	c.G796A	p.G266R	SADGRCKALSTCGAHFIVVALFFVP	SADGRCKALSTCRAHFIVVALFFVP	1.0	2.0	unscreened	-	3713_11:48347288-48347288 G>A_SADGRCKALSTCRAHFIVVALFFVP
6:54806180-54806180 C>T	0.0	3713	MELANOMA	-	-	-	-	FAM83B	ENST00000306858,p.S804F|NM_001010872,p.S804F|uc003pck.4,p.S804F	protein_coding	uc003pck.4	nonsynonymous SNV	exon5	c.C2411T	p.S804F	NKAPAFYRLCSSSDTLVSEGEENQK	NKAPAFYRLCSSFDTLVSEGEENQK	1.0	1.0	unscreened	-	3713_6:54806180-54806180 C>T_NKAPAFYRLCSSFDTLVSEGEENQK
5:35010132-35010132 C>T	0.0	3713	MELANOMA	-	-	-	-	AGXT2	uc011com.2,p.M362I|NM_031900,p.M437I|ENST00000231420,p.M437I|ENST00000510428,p.M362I|uc003jje.1,p.M90I|uc003jjf.3,p.M437I	retained_intron, protein_coding, nonsense_mediated_decay	uc011com.2	nonsynonymous SNV	exon10	c.G1086A	p.M362I	FEIVGDVRGKGLMIGIEMVQDKISC	FEIVGDVRGKGLIIGIEMVQDKISC	1.0	10.0	unscreened	-	3713_5:35010132-35010132 C>T_FEIVGDVRGKGLIIGIEMVQDKISC
11:72292991-72292991 C>T	1.0	3713	MELANOMA	-	-	-	-	PDE2A	uc010rrb.2,p.A609T|uc010rrd.2,p.A503T|ENST00000542223,p.A49T|NM_001146209,p.A609T|NM_001143839,p.A611T|uc001oso.3,p.A597T|ENST00000334456,p.A618T|ENST00000418754,p.A503T|uc010rra.2,p.A611T|NM_001243784,p.A597T|ENST00000444035,p.A609T|NM_002599,p.A618T|ENST00000441209,p.A159T|uc010rrc.2,p.A618T|ENST00000544570,p.A611T|ENST00000376450,p.A362T|ENST00000540345,p.A609T|uc001osn.3,p.A362T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rrd.2	nonsynonymous SNV	exon18	c.G1507A	p.A503T	TPRSLPEDDTSMAILSMLQDMNFIN	TPRSLPEDDTSMTILSMLQDMNFIN	3.0	7.0	unscreened	-	3713_11:72292991-72292991 C>T_TPRSLPEDDTSMTILSMLQDMNFIN
9:35957789-35957789 C>G	0.0	3713	MELANOMA	-	-	-	-	OR2S2	NM_019897,p.A103P|ENST00000341959,p.A103P|uc011lpi.2,p.A103P	protein_coding	uc011lpi.2	nonsynonymous SNV	exon1	c.G307C	p.A103P	ETISFSACAVQMALSFAMAGTECLL	ETISFSACAVQMPLSFAMAGTECLL	1.0	9.0	unscreened	-	3713_9:35957789-35957789 C>G_ETISFSACAVQMPLSFAMAGTECLL
11:40136158-40136158 G>A	0.0	3713	MELANOMA	-	-	-	-	LRRC4C	NM_020929,p.P562L|ENST00000528697,p.P562L|NM_001258419,p.P562L|uc031pzt.1,p.P562L|uc031pzu.1,p.P562L|uc001mxb.2,p.P558L|uc031pzs.1,p.P558L|ENST00000278198,p.P562L|ENST00000530763,p.P562L|uc021qgf.1,p.P562L|ENST00000527150,p.P562L	protein_coding, processed_transcript	uc031pzu.1	nonsynonymous SNV	exon5	c.C1685T	p.P562L	MRKQHHRQNHHAPTRTVEIINVDDE	MRKQHHRQNHHALTRTVEIINVDDE	1.0	2.0	unscreened	-	3713_11:40136158-40136158 G>A_MRKQHHRQNHHALTRTVEIINVDDE
1:225490876-225490876 C>T	0.0	3713	MELANOMA	-	-	-	-	DNAH14	ENST00000439375,p.H2791Y|uc001how.2,p.H2791Y|NM_001373,p.H2791Y|ENST00000430092,p.H2791Y|ENST00000445597,p.H2138Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001how.2	nonsynonymous SNV	exon55	c.C8371T	p.H2791Y	LSFFQKRIYKNLHIFVIMSPEGPSF	LSFFQKRIYKNLYIFVIMSPEGPSF	5.0	3.0	unscreened	-	3713_1:225490876-225490876 C>T_LSFFQKRIYKNLYIFVIMSPEGPSF
1:176857210-176857210 G>A	0.0	3713	MELANOMA	-	-	-	-	ASTN1	ENST00000367654,p.P1032L|uc001glc.3,p.P1024L|uc001gld.1,p.P1024L|uc001glb.1,p.P1024L|ENST00000424564,p.P1024L|NM_004319,p.P1024L|ENST00000367657,p.P1024L|NM_001286164,p.P1024L|NM_207108,p.P1024L|ENST00000361833,p.P1024L	protein_coding, processed_transcript	uc001gld.1	nonsynonymous SNV	exon18	c.C3071T	p.P1024L	ADGLPTCAPLPQPVLRLSTVHEPSS	ADGLPTCAPLPQLVLRLSTVHEPSS	1.0	3.0	unscreened	-	3713_1:176857210-176857210 G>A_ADGLPTCAPLPQLVLRLSTVHEPSS
15:50601929-50601929 G>A	0.0	3713	MELANOMA	-	-	-	-	GABPB1	uc001zyf.3,p.R23C|ENST00000359031,p.R23C|ENST00000558335,p.R23C|ENST00000220429,p.R23C|ENST00000560825,p.R23C|NM_181427,p.R23C|uc001zyd.3,p.R23C|uc001zyc.3,p.R23C|NM_005254,p.R23C|ENST00000558970,p.R23C|NM_002041,p.R23C|NM_016655,p.R23C|ENST00000396464,p.R23C|ENST00000380877,p.R23C|uc001zyb.3,p.R23C|uc001zya.3,p.R23C|NM_016654,p.R23C|ENST00000429662,p.R23C|uc001zye.3,p.R23C	retained_intron, protein_coding, TEC	uc001zyf.3	nonsynonymous SNV	exon3	c.C67T	p.R23C	LEAARAGQDDEVRILMANGAPFTTD	LEAARAGQDDEVCILMANGAPFTTD	8.0	2.0	-	-	3713_15:50601929-50601929 G>A_LEAARAGQDDEVCILMANGAPFTTD
9:116191623-116191623 C>T	1.0	3713	MELANOMA	-	-	-	-	C9orf43	ENST00000288462,p.T448I|uc004bho.4,p.T448I|NM_001278630,p.T466I|ENST00000374165,p.T448I|NM_001278629,p.T448I|NM_152786,p.T448I|uc004bhp.3,p.T448I	protein_coding, processed_transcript	uc004bhp.3	nonsynonymous SNV	exon14	c.C1343T	p.T448I	NSELKLLRILQDTDDEDEEDQSSGA	NSELKLLRILQDIDDEDEEDQSSGA	1.0	8.0	unscreened	-	3713_9:116191623-116191623 C>T_NSELKLLRILQDIDDEDEEDQSSGA
11:93754566-93754566 T>A	0.0	3713	MELANOMA	-	-	-	-	HEPHL1	uc001pep.2,p.F11Y|NM_001098672,p.F11Y|ENST00000315765,p.F11Y	protein_coding	uc001pep.2	nonsynonymous SNV	exon1	c.T32A	p.F11Y	MPRKQPAGCIFLLTFLGLSGLVG	MPRKQPAGCIYLLTFLGLSGLVG	1.0	8.0	unscreened	-	3713_11:93754566-93754566 T>A_MPRKQPAGCIYLLTFLGLSGLVG
3:148577704-148577704 C>T	0.0	3713	MELANOMA	-	-	-	-	CPB1	NM_001871,p.P390L|uc003ewl.3,p.P390L|ENST00000491148,p.P390L|ENST00000282957,p.P390L	retained_intron, protein_coding, processed_transcript	uc003ewl.3	nonsynonymous SNV	exon11	c.C1169T	p.P390L	ELRDTGRYGFLLPESQIRATCEETF	ELRDTGRYGFLLLESQIRATCEETF	1.0	10.0	unscreened	-	3713_3:148577704-148577704 C>T_ELRDTGRYGFLLLESQIRATCEETF
8:110437354-110437354 G>A	0.0	3713	MELANOMA	-	-	-	-	PKHD1L1	uc003yne.3,p.G913E|NM_177531,p.G913E|ENST00000378402,p.G913E	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon24	c.G2738A	p.G913E	ITHETENEFVYRGNNWPGESKIHIQ	ITHETENEFVYRENNWPGESKIHIQ	1.0	3.0	unscreened	-	3713_8:110437354-110437354 G>A_ITHETENEFVYRENNWPGESKIHIQ
5:140201380-140201380 G>A	0.0	3713	MELANOMA	-	-	-	-	PCDHA5	NM_018908,p.G7E|ENST00000378126,p.G7E|uc003lhl.2,p.G7E|ENST00000529619,p.G7E|uc003lhk.1,p.G7E|ENST00000529859,p.G7E|NM_031501,p.G7E|uc003lhj.1,p.G7E	protein_coding	uc003lhl.2	nonsynonymous SNV	exon1	c.G20A	p.G7E	MVYSRRGSLGSRLLLLWLL	MVYSRRESLGSRLLLLWLL	1.0	8.0	unscreened	-	3713_5:140201380-140201380 G>A_MVYSRRESLGSRLLLLWLL
14:76088539-76088539 C>T	0.0	3713	MELANOMA	-	-	-	-	FLVCR2	ENST00000553341,p.L11F	retained_intron, protein_coding, processed_transcript	ENST00000553341	nonsynonymous SNV	exon1	c.C31T	p.L11F	MFYIIGGVATLLLILVIIGLNAG	MFYIIGGVATFLLILVIIGLNAG	3.0	9.0	unscreened	-	3713_14:76088539-76088539 C>T_MFYIIGGVATFLLILVIIGLNAG
20:44681721-44681721 G>A	0.0	3713	MELANOMA	-	-	-	-	SLC12A5	ENST00000243964,p.G835R|uc002xrb.2,p.G835R|NM_001134771,p.G858R|NM_020708,p.G835R|uc010zxl.1,p.G858R|ENST00000454036,p.G858R	protein_coding	uc010zxl.1	nonsynonymous SNV	exon19	c.G2572A	p.G858R	EGSIDVWWIVHDGGMLMLLPFLLRH	EGSIDVWWIVHDRGMLMLLPFLLRH	1.0	1.0	unscreened	-	3713_20:44681721-44681721 G>A_EGSIDVWWIVHDRGMLMLLPFLLRH
18:7013911-7013911 G>A	1.0	3713	MELANOMA	-	-	-	-	LAMA1	uc002knm.3,p.P1089L|NM_005559,p.P1089L|ENST00000389658,p.P1089L|uc010wzj.2,p.P565L	retained_intron, protein_coding	uc010wzj.2	nonsynonymous SNV	exon22	c.C1694T	p.P565L	CSLGYRDFPDCVPCDCDLRGTSGDA	CSLGYRDFPDCVLCDCDLRGTSGDA	8.0	9.0	unscreened	-	3713_18:7013911-7013911 G>A_CSLGYRDFPDCVLCDCDLRGTSGDA
4:13616423-13616423 G>A	1.0	3713	MELANOMA	-	-	-	-	BOD1L1	uc003gmz.1,p.P191S|ENST00000040738,p.P191S|NM_148894,p.P191S	retained_intron, protein_coding, nonsense_mediated_decay	uc003gmz.1	nonsynonymous SNV	exon4	c.C571T	p.P191S	PDTSLITQGVPTPGPSANVANDAMS	PDTSLITQGVPTSGPSANVANDAMS	7.0	3.0	unscreened	-	3713_4:13616423-13616423 G>A_PDTSLITQGVPTSGPSANVANDAMS
7:123595054-123595054 G>A	0.0	3713	MELANOMA	-	-	-	-	SPAM1	uc003vld.3,p.E320K|ENST00000439500,p.E320K|ENST00000223028,p.E320K|ENST00000402183,p.E320K|NM_153189,p.E320K|NM_001174046,p.E320K|NM_003117,p.E320K|uc003vlf.4,p.E320K|uc010lku.3,p.E320K|ENST00000340011,p.E320K|NM_001174044,p.E320K|NM_001174045,p.E320K|uc022aks.1,p.E320K|uc003vle.3,p.E320K|ENST00000460182,p.E320K	protein_coding	uc022aks.1	nonsynonymous SNV	exon4	c.G958A	p.E320K	FTDQVLKFLSQDELVYTFGETVALG	FTDQVLKFLSQDKLVYTFGETVALG	1.0	8.0	unscreened	-	3713_7:123595054-123595054 G>A_FTDQVLKFLSQDKLVYTFGETVALG
9:125512316-125512316 C>T	0.0	3713	MELANOMA	-	-	-	-	OR1L6	ENST00000373684,p.L100F|uc022bna.1,p.L64F|NM_001004453,p.L64F|ENST00000304720,p.L64F	protein_coding	uc022bna.1	nonsynonymous SNV	exon1	c.C190T	p.L64F	SDPRLHTPMYFFLSNLSFMDICFTT	SDPRLHTPMYFFFSNLSFMDICFTT	1.0	4.0	unscreened	-	3713_9:125512316-125512316 C>T_SDPRLHTPMYFFFSNLSFMDICFTT
8:55540749-55540749 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1700104;OCCURENCE=1(skin)	-	RP1	NM_006269,p.S1436F|ENST00000220676,p.S1436F|uc003xsd.1,p.S1436F	protein_coding	uc003xsd.1	nonsynonymous SNV	exon4	c.C4307T	p.S1436F	SLRKFQDENAYTSFDMEEPRTSEEP	SLRKFQDENAYTFFDMEEPRTSEEP	1.0	10.0	unscreened	-	3713_8:55540749-55540749 C>T_SLRKFQDENAYTFFDMEEPRTSEEP
20:2082685-2082685 C>T	1.0	3713	MELANOMA	-	-	-	-	STK35	NM_080836,p.S53F|ENST00000381482,p.S53F|uc002wfw.4,p.S53F	protein_coding, nonsense_mediated_decay	uc002wfw.4	nonsynonymous SNV	exon1	c.C158T	p.S53F	QASPASAAAAEGSATRRARAATSRA	QASPASAAAAEGFATRRARAATSRA	7.0	1.0	unscreened	-	3713_20:2082685-2082685 C>T_QASPASAAAAEGFATRRARAATSRA
17:10267652-10267652 C>T	0.0	3713	MELANOMA	-	-	-	-	MYH13	NM_003802,p.D66N|ENST00000570743,p.D66N|ENST00000252172,p.D66N|uc002gmk.1,p.D66N|ENST00000418404,p.D66N	protein_coding	uc002gmk.1	nonsynonymous SNV	exon3	c.G196A	p.D66N	TRENDKVIVKTLDDRMLTLNNDQVF	TRENDKVIVKTLNDRMLTLNNDQVF	1.0	9.0	unscreened	-	3713_17:10267652-10267652 C>T_TRENDKVIVKTLNDRMLTLNNDQVF
4:70512672-70512672 C>T	0.0	3713	MELANOMA	-	-	-	-	UGT2A1	uc011caq.2,p.D231N|ENST00000514019,p.D231N|NM_001252274,p.D231N	 processed_transcript,retained_intron, protein_coding	uc011caq.2	nonsynonymous SNV	exon2	c.G691A	p.D231N	QDYMFETLWKSWDSYYSKALDGSHW	QDYMFETLWKSWNSYYSKALDGSHW	1.0	10.0	unscreened	-	3713_4:70512672-70512672 C>T_QDYMFETLWKSWNSYYSKALDGSHW
5:90025525-90025525 C>T	0.0	3713	MELANOMA	-	-	-	-	GPR98	NM_032119,p.S3498F|uc003kju.3,p.S3498F|ENST00000405460,p.S3498F|uc003kjv.3,p.S1098F	retained_intron, protein_coding, processed_transcript	uc003kjv.3	nonsynonymous SNV	exon18	c.C3293T	p.S1098F	WEMGQSSFRYFQSVDFAAVNRIHSF	WEMGQSSFRYFQFVDFAAVNRIHSF	1.0	2.0	unscreened	-	3713_5:90025525-90025525 C>T_WEMGQSSFRYFQFVDFAAVNRIHSF
6:54805208-54805208 G>A	0.0	3713	MELANOMA	-	-	-	-	FAM83B	NM_001010872,p.R480Q|uc003pck.4,p.R480Q|ENST00000306858,p.R480Q	protein_coding	uc003pck.4	nonsynonymous SNV	exon5	c.G1439A	p.R480Q	NGTDNHIRFLQQRMPTLEHTTKSFL	NGTDNHIRFLQQQMPTLEHTTKSFL	1.0	10.0	unscreened	-	3713_6:54805208-54805208 G>A_NGTDNHIRFLQQQMPTLEHTTKSFL
10:47682837-47682837 C>T	0.0	3713	MELANOMA	-	-	-	-	ANTXRL	ENST00000447511,p.T422I|NM_001278688,p.T422I|ENST00000537271,p.T422I	retained_intron, protein_coding, nonsense_mediated_decay	NM_001278688	nonsynonymous SNV	exon15	c.C1265T	p.T422I	PPLPPPPPAPVNTCPTVIICCCGCQ	PPLPPPPPAPVNICPTVIICCCGCQ	1.0	2.0	unscreened	-	3713_10:47682837-47682837 C>T_PPLPPPPPAPVNICPTVIICCCGCQ
2:173825518-173825518 C>T	0.0	3713	MELANOMA	-	-	-	-	RAPGEF4	uc010zeg.1,p.R17C	retained_intron, protein_coding, processed_transcript	uc010zeg.1	nonsynonymous SNV	exon2	c.C49T	p.R17C	VLTPLIEPHVPLRPANTITKVPSEK	VLTPLIEPHVPLCPANTITKVPSEK	1.0	3.0	unscreened	-	3713_2:173825518-173825518 C>T_VLTPLIEPHVPLCPANTITKVPSEK
2:173825518-173825518 C>T	0.0	3713	MELANOMA	-	-	-	-	RAPGEF4	NM_001282899,p.R37C|ENST00000539331,p.R37C|ENST00000540783,p.R37C|ENST00000397081,p.R190C|uc002uhw.4,p.R46C|ENST00000409036,p.R190C|uc010zec.1,p.R37C|NM_007023,p.R190C|NM_001100397,p.R46C|uc002uhu.2,p.R190C|uc010zee.1,p.R37C|ENST00000397087,p.R46C|uc002uhv.4,p.R190C	retained_intron, protein_coding, processed_transcript	uc010zee.1	nonsynonymous SNV	exon4	c.C109T	p.R37C	ENTPLIEPHVPLRPANTITKVPSEK	ENTPLIEPHVPLCPANTITKVPSEK	1.0	3.0	unscreened	-	3713_2:173825518-173825518 C>T_ENTPLIEPHVPLCPANTITKVPSEK
2:173825518-173825518 C>T	0.0	3713	MELANOMA	-	-	-	-	RAPGEF4	ENST00000264111,p.R189C	retained_intron, protein_coding, processed_transcript	ENST00000264111	nonsynonymous SNV	exon7	c.C565T	p.R189C	EMTPLIEPHVPLRPANTITKVPSEK	EMTPLIEPHVPLCPANTITKVPSEK	1.0	3.0	unscreened	-	3713_2:173825518-173825518 C>T_EMTPLIEPHVPLCPANTITKVPSEK
10:49951310-49951310 G>A	0.0	3713	MELANOMA	-	-	-	-	WDFY4	NM_020945,p.E726K|ENST00000413659,p.E726K|ENST00000325239,p.E726K|uc001jha.4,p.E726K	protein_coding, processed_transcript	uc001jha.4	nonsynonymous SNV	exon12	c.G2176A	p.E726K	DLCLLGCFGALEEEGNLLRSWVDTK	DLCLLGCFGALEKEGNLLRSWVDTK	3.0	10.0	unscreened	-	3713_10:49951310-49951310 G>A_DLCLLGCFGALEKEGNLLRSWVDTK
7:97867888-97867888 G>A	1.0	3713	MELANOMA	-	-	-	-	TECPR1	ENST00000542604,p.P253L|NM_015395,p.P323L|ENST00000447648,p.P323L|ENST00000379795,p.P323L|uc003upg.4,p.P323L|uc003uph.2,p.P253L	retained_intron, protein_coding, processed_transcript	uc003uph.2	nonsynonymous SNV	exon8	c.C758T	p.P253L	KVWFRRGVNSHNPCGTSWIEMVGEM	KVWFRRGVNSHNLCGTSWIEMVGEM	6.0	6.0	-	-	3713_7:97867888-97867888 G>A_KVWFRRGVNSHNLCGTSWIEMVGEM
3:189712072-189712072 C>T	1.0	3713	MELANOMA	-	-	-	-	LEPREL1	uc011bsk.2,p.E212K|NM_018192,p.E212K|ENST00000444866,p.E31K|NM_001134418,p.E31K|ENST00000319332,p.E212K|ENST00000427335,p.E31K|uc003fsg.3,p.E31K|ENST00000426003,p.E31K	retained_intron, protein_coding	uc011bsk.2	nonsynonymous SNV	exon3	c.G634A	p.E212K	LQLVDREAKPHMESYNAGVKHYEAD	LQLVDREAKPHMKSYNAGVKHYEAD	2.0	7.0	-	-	3713_3:189712072-189712072 C>T_LQLVDREAKPHMKSYNAGVKHYEAD
17:56573125-56573125 G>A	1.0	3713	MELANOMA	-	-	-	-	MTMR4	uc002iwj.2,p.A793V|ENST00000323456,p.A793V|ENST00000579925,p.A736V|NM_004687,p.A793V	retained_intron, protein_coding, nonsense_mediated_decay	uc002iwj.2	nonsynonymous SNV	exon16	c.C2378T	p.A793V	SSQNSPTGTPQQAQPDSMLGVPSKC	SSQNSPTGTPQQVQPDSMLGVPSKC	9.0	6.0	-	-	3713_17:56573125-56573125 G>A_SSQNSPTGTPQQVQPDSMLGVPSKC
6:54805346-54805346 C>T	0.0	3713	MELANOMA	-	-	-	-	FAM83B	NM_001010872,p.P526L|ENST00000306858,p.P526L|uc003pck.4,p.P526L	protein_coding	uc003pck.4	nonsynonymous SNV	exon5	c.C1577T	p.P526L	SALGDRFEGYDNPENLKANALYTHS	SALGDRFEGYDNLENLKANALYTHS	1.0	9.0	unscreened	-	3713_6:54805346-54805346 C>T_SALGDRFEGYDNLENLKANALYTHS
1:16256061-16256061 C>T	1.0	3713	MELANOMA	-	-	-	1	SPEN	ENST00000375759,p.S1109L|uc010obp.1,p.S1068L|uc001axk.1,p.S1109L|NM_015001,p.S1109L	protein_coding, processed_transcript	uc010obp.1	nonsynonymous SNV	exon10	c.C3203T	p.S1068L	ENQEVQSKKPIPSKPQLKQLQVLDD	ENQEVQSKKPIPLKPQLKQLQVLDD	8.0	9.0	-	-	3713_1:16256061-16256061 C>T_ENQEVQSKKPIPLKPQLKQLQVLDD
9:35819385-35819385 G>A	0.0	3713	MELANOMA	-	-	-	-	FAM221B	NM_001012446,p.S287L|ENST00000377984,p.S287L|uc011lpg.1,p.S287L|uc010mlc.2,p.S287L|ENST00000423537,p.S287L	protein_coding, nonsense_mediated_decay	uc011lpg.1	nonsynonymous SNV	exon6	c.C860T	p.S287L	HLLREHRIISDISVPCKVSQCRCFM	HLLREHRIISDILVPCKVSQCRCFM	1.0	3.0	unscreened	-	3713_9:35819385-35819385 G>A_HLLREHRIISDILVPCKVSQCRCFM
12:70963716-70963716 G>A	1.0	3713	MELANOMA	-	-	-	1	PTPRB	uc009zrr.2,p.P1004S|NM_002837,p.P907S|uc001swa.4,p.P1037S|uc001swb.4,p.P907S|NM_001206972,p.P907S|ENST00000550358,p.P1037S|NM_001109754,p.P1125S|uc010stp.2,p.P817S|NM_001206971,p.P817S|ENST00000261266,p.P907S|uc001swd.4,p.P1124S|ENST00000551525,p.P1124S|uc010sto.2,p.P907S|ENST00000548122,p.P1004S|ENST00000538708,p.P907S|ENST00000451516,p.P817S|uc001swc.4,p.P1125S|ENST00000334414,p.P1125S|ENST00000550857,p.P817S	retained_intron, protein_coding, processed_transcript	uc010stp.2	nonsynonymous SNV	exon11	c.C2449T	p.P817S	VQQSAFIEGFTVPSAVKNIHISPNG	VQQSAFIEGFTVSSAVKNIHISPNG	2.0	6.0	-	-	3713_12:70963716-70963716 G>A_VQQSAFIEGFTVSSAVKNIHISPNG
1:62728967-62728967 G>A	0.0	3713	MELANOMA	-	-	-	-	KANK4	uc001dag.4,p.T135I|uc001dah.4,p.T779I|ENST00000371150,p.T135I|uc001dai.4,p.T151I|ENST00000371153,p.T779I|NM_181712,p.T779I|ENST00000354381,p.T151I	protein_coding	uc001dai.4	nonsynonymous SNV	exon6	c.C452T	p.T151I	TTTDQLLRQSLNTISQEWFRVSSRK	TTTDQLLRQSLNIISQEWFRVSSRK	1.0	10.0	unscreened	-	3713_1:62728967-62728967 G>A_TTTDQLLRQSLNIISQEWFRVSSRK
18:28662359-28662359 C>G	0.0	3713	MELANOMA	-	-	-	-	DSC2	uc002kwl.4,p.D370H|NM_004949,p.D370H|ENST00000280904,p.D370H|uc002kwk.4,p.D370H|NM_024422,p.D370H|ENST00000251081,p.D370H	protein_coding	uc002kwl.4	nonsynonymous SNV	exon9	c.G1108C	p.D370H	TSYVTSVEENTVDVEILRVTVEDKD	TSYVTSVEENTVHVEILRVTVEDKD	2.0	1.0	unscreened	-	3713_18:28662359-28662359 C>G_TSYVTSVEENTVHVEILRVTVEDKD
8:144789219-144789219 G>A	0.0	3713	MELANOMA	-	-	-	-	CCDC166	ENST00000542437,p.A322V|uc011lkr.2,p.A322V|NM_001162914,p.A322V	protein_coding	uc011lkr.2	nonsynonymous SNV	exon2	c.C965T	p.A322V	TPSVVPSRAAPRASSVVPSREASRV	TPSVVPSRAAPRVSSVVPSREASRV	1.0	3.0	unscreened	-	3713_8:144789219-144789219 G>A_TPSVVPSRAAPRVSSVVPSREASRV
9:34723524-34723524 G>A	0.0	3713	MELANOMA	-	-	-	-	FAM205A	uc011lor.2,p.A1238V|ENST00000378788,p.A1238V|NM_001141917,p.A1238V	protein_coding	uc011lor.2	nonsynonymous SNV	exon4	c.C3713T	p.A1238V	TKGKGHEDSMFSAAAKVAKTRKENV	TKGKGHEDSMFSVAAKVAKTRKENV	1.0	10.0	unscreened	-	3713_9:34723524-34723524 G>A_TKGKGHEDSMFSVAAKVAKTRKENV
4:166978420-166978420 A>C	0.0	3713	MELANOMA	-	-	-	-	TLL1	uc003irh.2,p.E602A|ENST00000507499,p.E625A|ENST00000061240,p.E602A|NM_012464,p.E602A|uc011cjn.2,p.E625A|uc011cjo.2,p.E426A	protein_coding, nonsense_mediated_decay	uc011cjo.2	nonsynonymous SNV	exon14	c.A1277C	p.E426A	CLNTLGSYQCACEPGYELGPDRRSC	CLNTLGSYQCACAPGYELGPDRRSC	1.0	2.0	unscreened	-	3713_4:166978420-166978420 A>C_CLNTLGSYQCACAPGYELGPDRRSC
4:115997514-115997514 G>A	0.0	3713	MELANOMA	-	-	-	-	NDST4	uc003ibu.3,p.H227Y|ENST00000264363,p.H227Y|NM_022569,p.H227Y	retained_intron, protein_coding, nonsense_mediated_decay	uc003ibu.3	nonsynonymous SNV	exon2	c.C679T	p.H227Y	LPGEDWTIFQYNHSTYQPVLLTELQ	LPGEDWTIFQYNYSTYQPVLLTELQ	1.0	9.0	unscreened	-	3713_4:115997514-115997514 G>A_LPGEDWTIFQYNYSTYQPVLLTELQ
11:4976383-4976383 C>T	0.0	3713	MELANOMA	-	-	-	-	OR51A2	uc010qyt.2,p.M187I|NM_001004748,p.M187I|ENST00000380371,p.M187I	protein_coding	uc010qyt.2	nonsynonymous SNV	exon1	c.G561A	p.M187I	QLSHSYCLHQDVMKLACSDNRIDVI	QLSHSYCLHQDVIKLACSDNRIDVI	1.0	10.0	unscreened	-	3713_11:4976383-4976383 C>T_QLSHSYCLHQDVIKLACSDNRIDVI
6:32184747-32184747 A>C	0.0	3713	MELANOMA	-	-	-	-	NOTCH4	uc003obc.3,p.F612L	retained_intron, protein_coding, processed_transcript	uc003obc.3	nonsynonymous SNV	exon11	c.T1836G	p.F612L	VGASCLDLPGAFFCLCPSGFTGSQG	VGASCLDLPGAFLCLCPSGFTGSQG	7.0	9.0	unscreened	-	3713_6:32184747-32184747 A>C_VGASCLDLPGAFLCLCPSGFTGSQG
6:117709105-117709105 C>T	1.0	3713	MELANOMA	-	-	-	1	ROS1	uc003pxp.1,p.D618N|ENST00000368507,p.D613N|ENST00000368508,p.D618N|NM_002944,p.D618N	protein_coding	uc003pxp.1	nonsynonymous SNV	exon13	c.G1852A	p.D618N	QNWTYEVKVSTQDPPEVTHIFLNIS	QNWTYEVKVSTQNPPEVTHIFLNIS	1.0	5.0	unscreened	-	3713_6:117709105-117709105 C>T_QNWTYEVKVSTQNPPEVTHIFLNIS
1:44085794-44085794 G>A	1.0	3713	MELANOMA	-	-	-	-	PTPRF	ENST00000372407,p.G786R|NM_002840,p.G1714R|ENST00000438120,p.G1705R|uc001cju.3,p.G1103R|NM_130440,p.G1705R|uc009vwt.3,p.G1274R|ENST00000359947,p.G1714R|uc001cjs.3,p.G1705R|ENST00000372413,p.G1705R|uc001cjw.3,p.G940R|uc001cjr.3,p.G1714R|ENST00000372414,p.G1714R|uc001cjv.3,p.G1185R|ENST00000422171,p.G1073R	protein_coding, processed_transcript	uc009vwt.3	nonsynonymous SNV	exon21	c.G3820A	p.G1274R	GYRQQKAYIATQGPLAESTEDFWRM	GYRQQKAYIATQRPLAESTEDFWRM	8.0	6.0	-	-	3713_1:44085794-44085794 G>A_GYRQQKAYIATQRPLAESTEDFWRM
3:35730811-35730811 A>T	0.0	3713	MELANOMA	-	-	-	-	ARPP21	ENST00000414496,p.N92Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000414496	nonsynonymous SNV	exon6	c.A274T	p.N92Y	GGESLQDQIAAKNTRILQA	GGESLQDQIAAKYTRILQA	1.0	3.0	unscreened	-	3713_3:35730811-35730811 A>T_GGESLQDQIAAKYTRILQA
1:202287725-202287725 C>T	0.0	3713	MELANOMA	-	-	-	-	LGR6	ENST00000439764,p.A626V|uc001gxu.3,p.A765V|ENST00000367278,p.A765V|NM_001017404,p.A626V|uc001gxv.3,p.A713V|uc001gxw.3,p.A626V|NM_021636,p.A713V|ENST00000255432,p.A713V|NM_001017403,p.A765V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001gxw.3	nonsynonymous SNV	exon16	c.C1877T	p.A626V	KLYCDLPRGDFEAVWDCAMVRHVAW	KLYCDLPRGDFEVVWDCAMVRHVAW	1.0	7.0	unscreened	-	3713_1:202287725-202287725 C>T_KLYCDLPRGDFEVVWDCAMVRHVAW
5:140175879-140175879 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1061839,COSM1061840;OCCURENCE=1(endometrium)	-	PCDHA2	NM_031496,p.E444K|ENST00000526136,p.E444K|ENST00000378132,p.E444K|NM_018905,p.E444K|uc003lhd.2,p.E444K|ENST00000520672,p.E444K|NM_031495,p.E444K|uc003lhc.1,p.E444K|uc011czy.2,p.E444K	protein_coding	uc011czy.2	nonsynonymous SNV	exon1	c.G1330A	p.E444K	SPSLWATTSVSIEVADVNDNAPAFA	SPSLWATTSVSIKVADVNDNAPAFA	1.0	9.0	unscreened	-	3713_5:140175879-140175879 G>A_SPSLWATTSVSIKVADVNDNAPAFA
16:20976156-20976156 C>T	0.0	3713	MELANOMA	-	-	-	-	DNAH3	uc010vbd.2,p.R452Q|NM_017539,p.R3017Q|uc010vbe.2,p.R3017Q|ENST00000261383,p.R3017Q	retained_intron, protein_coding, processed_transcript	uc010vbe.2	nonsynonymous SNV	exon53	c.G9050A	p.R3017Q	TVAYLGAFTVDYRVQCQNQWLAECK	TVAYLGAFTVDYQVQCQNQWLAECK	1.0	2.0	unscreened	-	3713_16:20976156-20976156 C>T_TVAYLGAFTVDYQVQCQNQWLAECK
5:54570829-54570829 G>A	1.0	3713	MELANOMA	-	-	-	-	DHX29	uc003jpx.3,p.P813S|NM_019030,p.P813S|ENST00000251636,p.P813S	retained_intron, protein_coding	uc003jpx.3	nonsynonymous SNV	exon15	c.C2437T	p.P813S	KAGGIKKYQEYIPVQTGAHADLNPF	KAGGIKKYQEYISVQTGAHADLNPF	5.0	10.0	-	-	3713_5:54570829-54570829 G>A_KAGGIKKYQEYISVQTGAHADLNPF
9:125316310-125316310 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1701670;OCCURENCE=1(skin)	-	OR1N2	NM_001004457,p.E288K|uc011lyx.2,p.E288K|ENST00000373688,p.E288K	protein_coding	uc011lyx.2	nonsynonymous SNV	exon1	c.G862A	p.E288K	YLLPPSTYSTERESRAAVLYMVIIP	YLLPPSTYSTERKSRAAVLYMVIIP	1.0	10.0	unscreened	-	3713_9:125316310-125316310 G>A_YLLPPSTYSTERKSRAAVLYMVIIP
7:92761164-92761164 T>G	1.0	3713	MELANOMA	-	-	-	-	SAMD9L	ENST00000437805,p.K1374T|uc022ahh.1,p.K1374T|NM_152703,p.K1374T|ENST00000318238,p.K1374T|uc010lfd.1,p.K1374T|uc003umi.1,p.K1374T|uc003umj.1,p.K1374T|ENST00000411955,p.K1374T|uc010lfb.1,p.K1374T|uc010lfc.1,p.K1374T|uc003umh.1,p.K1374T|uc003umk.1,p.K1374T	protein_coding, processed_transcript	uc022ahh.1	nonsynonymous SNV	exon1	c.A4121C	p.K1374T	NEYAFLLQQNSKKPMTNEKQNSILA	NEYAFLLQQNSKTPMTNEKQNSILA	9.0	9.0	-	-	3713_7:92761164-92761164 T>G_NEYAFLLQQNSKTPMTNEKQNSILA
19:39805136-39805136 G>A	0.0	3713	MELANOMA	-	-	-	-	LRFN1	uc002okw.2,p.L281F|NM_020862,p.L281F|ENST00000248668,p.L281F	protein_coding	uc002okw.2	nonsynonymous SNV	exon1	c.C841T	p.L281F	EDDLETCATPEHLTDRYFWSIPEEE	EDDLETCATPEHFTDRYFWSIPEEE	2.0	6.0	unscreened	-	3713_19:39805136-39805136 G>A_EDDLETCATPEHFTDRYFWSIPEEE
5:140431134-140431134 G>A	0.0	3713	MELANOMA	-	-	-	-	PCDHB1	NM_013340,p.D27N|uc003lik.1,p.D27N|ENST00000306549,p.D27N	protein_coding	uc003lik.1	nonsynonymous SNV	exon1	c.G79A	p.D27N	GSLLIFLCISVGDATTIRYSVAEEM	GSLLIFLCISVGNATTIRYSVAEEM	1.0	9.0	unscreened	-	3713_5:140431134-140431134 G>A_GSLLIFLCISVGNATTIRYSVAEEM
17:48680413-48680413 A>C	0.0	3713	MELANOMA	-	-	-	-	CACNA1G	NM_001256360,p.Y1341S|ENST00000515765,p.Y1341S|ENST00000514181,p.Y1341S|ENST00000503436,p.Y1318S|ENST00000442258,p.Y1318S|NM_198378,p.Y1341S|ENST00000514717,p.Y1318S|ENST00000506520,p.Y156S|ENST00000354983,p.Y1318S|uc002isj.3,p.Y65S|NM_018896,p.Y1341S|ENST00000511765,p.Y1341S|ENST00000511768,p.Y1318S|ENST00000507896,p.Y1341S|NM_001256332,p.Y1318S|NM_198396,p.Y1318S|ENST00000506406,p.Y1341S|uc002irw.2,p.Y1318S|ENST00000502264,p.Y1318S|NM_198388,p.Y1318S|uc002iru.2,p.Y1318S|ENST00000507336,p.Y1341S|ENST00000505165,p.Y1341S|uc002ish.2,p.Y1341S|ENST00000514079,p.Y1341S|uc002irt.2,p.Y1341S|uc002irs.2,p.Y1341S|ENST00000504076,p.Y1341S|NM_001256328,p.Y1341S|ENST00000507609,p.Y1341S|ENST00000515165,p.Y1341S|uc002iro.2,p.Y1318S|uc002isd.2,p.Y1341S|uc002isc.2,p.Y1341S|NM_198379,p.Y1318S|ENST00000416767,p.Y1341S|uc002irr.2,p.Y1341S|NM_198385,p.Y1341S|NM_198386,p.Y1341S|uc002iry.2,p.Y1341S|NM_001256331,p.Y1341S|NM_001256327,p.Y1341S|uc002irl.2,p.Y1318S|NM_198376,p.Y1318S|NM_001256326,p.Y1341S|ENST00000352832,p.Y1318S|NM_001256361,p.Y1341S|ENST00000429973,p.Y1341S|NM_001256325,p.Y1341S|uc002isf.2,p.Y1341S|uc002isb.2,p.Y1341S|NM_198383,p.Y1318S|ENST00000507510,p.Y1341S|ENST00000513689,p.Y1341S|ENST00000503607,p.Y1318S|ENST00000358244,p.Y1318S|uc002irv.2,p.Y1341S|ENST00000360761,p.Y1318S|uc002irz.2,p.Y1341S|NM_001256359,p.Y1341S|ENST00000512389,p.Y1341S|uc002isi.2,p.Y1318S|uc002isg.2,p.Y1341S|ENST00000510366,p.Y1341S|NM_001256333,p.Y1341S|uc002irk.2,p.Y1341S|ENST00000510115,p.Y1318S|uc002irx.2,p.Y1341S|NM_198384,p.Y1341S|uc002irp.2,p.Y1341S|uc002irj.2,p.Y1318S|NM_001256329,p.Y1341S|NM_001256334,p.Y1341S|uc002ise.2,p.Y1341S|uc002irn.2,p.Y1318S|NM_198380,p.Y1341S|NM_198382,p.Y1318S|ENST00000503485,p.Y1341S|NM_001256324,p.Y1341S|uc002irm.2,p.Y1318S|ENST00000515411,p.Y1341S|ENST00000513964,p.Y1341S|uc002isa.2,p.Y1341S|NM_198387,p.Y1318S|uc031rde.1,p.Y1254S|NM_001256330,p.Y1341S|ENST00000359106,p.Y1341S|NM_198377,p.Y1341S	protein_coding, nonsense_mediated_decay	uc031rde.1	nonsynonymous SNV	exon20	c.A3761C	p.Y1254S	VVALGWCFGEQAYLRSSWNVLDGLL	VVALGWCFGEQASLRSSWNVLDGLL	1.0	10.0	unscreened	-	3713_17:48680413-48680413 A>C_VVALGWCFGEQASLRSSWNVLDGLL
7:140481412-140481412 C>T	0.0	3713	MELANOMA	-	-	ID=COSM253328;OCCURENCE=1(skin),1(large_intestine)	1	BRAF	NM_004333,p.G466R|ENST00000288602,p.G466R|uc003vwc.4,p.G466R	retained_intron, protein_coding, nonsense_mediated_decay	uc003vwc.4	nonsynonymous SNV	exon11	c.G1396A	p.G466R	DGQITVGQRIGSGSFGTVYKGKWHG	DGQITVGQRIGSRSFGTVYKGKWHG	8.0	5.0	-	-	3713_7:140481412-140481412 C>T_DGQITVGQRIGSRSFGTVYKGKWHG
14:100377768-100377768 G>A	1.0	3713	MELANOMA	-	-	-	-	EML1	uc010tww.2,p.R438Q|ENST00000327921,p.R438Q|uc001ygq.3,p.R469Q|uc001ygs.3,p.R450Q|ENST00000262233,p.R450Q|NM_001008707,p.R469Q|ENST00000334192,p.R469Q|uc001ygr.3,p.R469Q|NM_004434,p.R450Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tww.2	nonsynonymous SNV	exon14	c.G1313A	p.R438Q	SGNILVWGKGTNRISYAVQGAHEGG	SGNILVWGKGTNQISYAVQGAHEGG	2.0	2.0	unscreened	-	3713_14:100377768-100377768 G>A_SGNILVWGKGTNQISYAVQGAHEGG
11:114442014-114442014 T>A	0.0	3713	MELANOMA	-	-	-	-	NXPE4	uc001ppc.3,p.K427N|NM_017678,p.K143N|ENST00000375478,p.K427N|ENST00000424261,p.K143N|NM_001077639,p.K427N|uc001ppd.3,p.K143N	protein_coding	uc001ppd.3	nonsynonymous SNV	exon6	c.A429T	p.K143N	YLTRAIDRTGGEKNTVIVISLGQHF	YLTRAIDRTGGENNTVIVISLGQHF	1.0	10.0	unscreened	-	3713_11:114442014-114442014 T>A_YLTRAIDRTGGENNTVIVISLGQHF
16:1888117-1888117 C>T	0.0	3713	MELANOMA	-	-	-	-	FAHD1	ENST00000382666,p.S246F|uc002cnd.3,p.S246F|NM_001018104,p.S246F	protein_coding	uc002cnd.3	nonsynonymous SNV	exon2	c.C737T	p.S246F	LELPGSSNPPSASRF	LELPGSSNPPSAFRF	8.0	1.0	unscreened	-	3713_16:1888117-1888117 C>T_LELPGSSNPPSAFRF
13:46824550-46824550 C>T	0.0	3713	MELANOMA	-	-	-	-	LRRC63	NM_001282460,p.P384S|uc001vbc.3,p.P384S|ENST00000446175,p.P384S|ENST00000595396,p.P384S|ENST00000378805,p.P384S	protein_coding, non_stop_decay	uc001vbc.3	nonsynonymous SNV	exon7	c.C1150T	p.P384S	ILKLRNNPIKEIPSEIQQLEFLRIF	ILKLRNNPIKEISSEIQQLEFLRIF	1.0	1.0	unscreened	-	3713_13:46824550-46824550 C>T_ILKLRNNPIKEISSEIQQLEFLRIF
6:32184747-32184747 A>C	0.0	3713	MELANOMA	-	-	-	-	NOTCH4	ENST00000375023,p.F612L|uc003obb.3,p.F612L|NM_004557,p.F612L	retained_intron, protein_coding, processed_transcript	uc003obb.3	nonsynonymous SNV	exon11	c.T1836G	p.F612L	VGASCLDLPGAFFCLCPSGFTGQLC	VGASCLDLPGAFLCLCPSGFTGQLC	7.0	9.0	unscreened	-	3713_6:32184747-32184747 A>C_VGASCLDLPGAFLCLCPSGFTGQLC
15:35086922-35086922 G>A	0.0	3713	MELANOMA	-	-	-	-	ACTC1	uc001ziu.1,p.R30C|NM_005159,p.R30C|ENST00000290378,p.R30C	retained_intron, protein_coding, processed_transcript	uc001ziu.1	nonsynonymous SNV	exon2	c.C88T	p.R30C	LVKAGFAGDDAPRAVFPSIVGRPRH	LVKAGFAGDDAPCAVFPSIVGRPRH	1.0	8.0	unscreened	-	3713_15:35086922-35086922 G>A_LVKAGFAGDDAPCAVFPSIVGRPRH
17:43922298-43922298 C>T	0.0	3713	MELANOMA	-	-	-	-	SPPL2C	uc010wka.2,p.P9L|NM_175882,p.P9L|ENST00000329196,p.P9L	protein_coding	uc010wka.2	nonsynonymous SNV	exon1	c.C26T	p.P9L	MACLGFLLPVGFLLLISTVAG	MACLGFLLLVGFLLLISTVAG	1.0	6.0	-	-	3713_17:43922298-43922298 C>T_MACLGFLLLVGFLLLISTVAG
21:45709570-45709570 G>A	0.0	3713	MELANOMA	-	-	-	-	AIRE	ENST00000291582,p.G228E|uc002zei.3,p.G228E|NM_000383,p.G228E	retained_intron, protein_coding, nonsense_mediated_decay	uc002zei.3	nonsynonymous SNV	exon6	c.G683A	p.G228E	ESGGSKKCIQVGGEFYTPSKFEDSG	ESGGSKKCIQVGEEFYTPSKFEDSG	1.0	7.0	unscreened	-	3713_21:45709570-45709570 G>A_ESGGSKKCIQVGEEFYTPSKFEDSG
8:36661576-36661576 C>T	0.0	3713	MELANOMA	-	-	-	-	KCNU1	ENST00000399881,p.S116F|ENST00000522372,p.S116F|uc010lvw.3,p.S116F|NM_001031836,p.S116F|ENST00000523973,p.S116F	protein_coding, nonsense_mediated_decay	uc010lvw.3	nonsynonymous SNV	exon3	c.C347T	p.S116F	VLVILVFVLSIGSLIIYFINSADPV	VLVILVFVLSIGFLIIYFINSADPV	1.0	3.0	unscreened	-	3713_8:36661576-36661576 C>T_VLVILVFVLSIGFLIIYFINSADPV
12:101561891-101561891 G>A	0.0	3713	MELANOMA	-	-	-	-	SLC5A8	NM_145913,p.P435S|ENST00000536262,p.P435S|uc001thz.4,p.P435S	protein_coding	uc001thz.4	nonsynonymous SNV	exon11	c.C1303T	p.P435S	PLMGLFALGILVPFANSIGALVGLM	PLMGLFALGILVSFANSIGALVGLM	1.0	10.0	unscreened	-	3713_12:101561891-101561891 G>A_PLMGLFALGILVSFANSIGALVGLM
3:114069627-114069627 G>A	1.0	3713	MELANOMA	-	-	-	-	ZBTB20	ENST00000464560,p.P360L|ENST00000462705,p.P360L|ENST00000357258,p.P360L|NM_015642,p.P360L|uc003ebi.3,p.P433L|uc010hqp.3,p.P360L|NM_001164343,p.P360L|ENST00000481632,p.P360L|NM_001164342,p.P433L|NM_001164346,p.P360L|uc003ebk.3,p.P360L|ENST00000474710,p.P433L|ENST00000471418,p.P360L|uc003ebm.3,p.P360L|ENST00000393785,p.P360L|NM_001164347,p.P360L|uc003ebn.3,p.P360L|NM_001164345,p.P360L|uc003ebl.3,p.P360L|uc003ebj.3,p.P360L|NM_001164344,p.P360L	protein_coding, processed_transcript	uc010hqp.3	nonsynonymous SNV	exon5	c.C1079T	p.P360L	PQTNQLETGASSPERSNEVEMDSTV	PQTNQLETGASSLERSNEVEMDSTV	2.0	3.0	unscreened	-	3713_3:114069627-114069627 G>A_PQTNQLETGASSLERSNEVEMDSTV
1:67205180-67205180 G>A	0.0	3713	MELANOMA	-	-	-	-	SGIP1	uc001dct.3,p.G334R|ENST00000371037,p.G732R|ENST00000371035,p.G522R|uc010opd.2,p.G332R|uc001dcs.3,p.G332R|ENST00000237247,p.G763R|ENST00000435165,p.G237R|NM_032291,p.G732R|uc001dcu.3,p.G237R|ENST00000371036,p.G534R|uc001dcr.3,p.G732R|uc009wat.3,p.G526R|ENST00000371039,p.G535R	protein_coding, processed_transcript	uc010opd.2	nonsynonymous SNV	exon15	c.G994A	p.G332R	LNNVQFLVPIDGGVTKLQAVLPPAV	LNNVQFLVPIDGRVTKLQAVLPPAV	3.0	8.0	unscreened	-	3713_1:67205180-67205180 G>A_LNNVQFLVPIDGRVTKLQAVLPPAV
11:7847515-7847515 C>T	0.0	3713	MELANOMA	-	-	-	-	OR5P3	uc010rbg.2,p.G2E|ENST00000328375,p.G2E|NM_153445,p.G2E	protein_coding	uc010rbg.2	nonsynonymous SNV	exon1	c.G5A	p.G2E	MGTGNDTTVVEFTL	METGNDTTVVEFTL	1.0	2.0	unscreened	-	3713_11:7847515-7847515 C>T_METGNDTTVVEFTL
8:121219275-121219275 G>A	0.0	3713	MELANOMA	-	-	-	-	COL14A1	ENST00000537875,p.G378E|uc003yoy.3,p.G56E|ENST00000297848,p.G378E|NM_021110,p.G378E|ENST00000434620,p.G191E|uc003yox.4,p.G378E|ENST00000498051,p.G378E|ENST00000247781,p.G283E|ENST00000309791,p.G378E|uc010mde.1,p.G56E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010mde.1	nonsynonymous SNV	exon3	c.G167A	p.G56E	ARSFMVNWTHAPGNVEKYRVVYYPT	ARSFMVNWTHAPENVEKYRVVYYPT	3.0	9.0	unscreened	-	3713_8:121219275-121219275 G>A_ARSFMVNWTHAPENVEKYRVVYYPT
12:9345235-9345235 C>T	0.0	3713	MELANOMA	-	-	-	-	PZP	uc009zgl.3,p.G321E|ENST00000261336,p.G452E|NM_002864,p.G452E|uc001qvl.3,p.G452E|ENST00000381997,p.G321E	protein_coding, processed_transcript, nonsense_mediated_decay	uc009zgl.3	nonsynonymous SNV	exon11	c.G962A	p.G321E	AQHTANRVFSLSGSYIHLEPVAGTL	AQHTANRVFSLSESYIHLEPVAGTL	1.0	6.0	unscreened	-	3713_12:9345235-9345235 C>T_AQHTANRVFSLSESYIHLEPVAGTL
7:94898613-94898613 C>T	0.0	3713	MELANOMA	-	-	-	-	PPP1R9A	ENST00000433360,p.P973L|NM_001166161,p.P933L|uc003unq.3,p.P951L|uc003unr.3,p.P24L|NM_001166162,p.P951L|NM_001166160,p.P973L|ENST00000424654,p.P951L|ENST00000456331,p.P951L|uc011kif.2,p.P933L|ENST00000289495,p.P933L|uc010lfj.3,p.P973L	protein_coding	uc011kif.2	nonsynonymous SNV	exon12	c.C2798T	p.P933L	LRTSSPESDSGVPPLTPVDSNVPFS	LRTSSPESDSGVLPLTPVDSNVPFS	3.0	9.0	unscreened	-	3713_7:94898613-94898613 C>T_LRTSSPESDSGVLPLTPVDSNVPFS
1:170985409-170985409 G>A	0.0	3713	MELANOMA	-	-	-	-	MROH9	NM_001163629,p.E614K|ENST00000367759,p.E614K|uc010plz.2,p.E614K	protein_coding	uc010plz.2	nonsynonymous SNV	exon17	c.G1840A	p.E614K	LQALLTLRRLLNELDKVTYSLGTRI	LQALLTLRRLLNKLDKVTYSLGTRI	1.0	3.0	unscreened	-	3713_1:170985409-170985409 G>A_LQALLTLRRLLNKLDKVTYSLGTRI
6:7585175-7585175 G>A	0.0	3713	MELANOMA	-	-	-	-	DSP	NM_004415,p.M2560I|NM_001008844,p.M1961I|uc003mxq.1,p.M1961I|uc021yle.1,p.M2117I|ENST00000418664,p.M1961I|ENST00000379802,p.M2560I|uc003mxp.1,p.M2560I	retained_intron, protein_coding	uc021yle.1	nonsynonymous SNV	exon24	c.G6351A	p.M2117I	RSGSLSLTQFADMISLKNGVGTSSS	RSGSLSLTQFADIISLKNGVGTSSS	1.0	1.0	unscreened	-	3713_6:7585175-7585175 G>A_RSGSLSLTQFADIISLKNGVGTSSS
1:17402191-17402191 G>A	0.0	3713	MELANOMA	-	-	-	-	PADI2	uc010ocm.2,p.P364S|NM_007365,p.P480S|ENST00000444885,p.P364S|uc001baf.3,p.P480S|ENST00000375486,p.P480S	protein_coding, processed_transcript	uc010ocm.2	nonsynonymous SNV	exon9	c.C1090T	p.P364S	TVGHVDEFMSFVPIPGTKKFLLLMA	TVGHVDEFMSFVSIPGTKKFLLLMA	3.0	8.0	unscreened	-	3713_1:17402191-17402191 G>A_TVGHVDEFMSFVSIPGTKKFLLLMA
2:79971629-79971629 A>T	1.0	3713	MELANOMA	-	-	-	2	CTNNA2	ENST00000466387,p.E73D|ENST00000496558,p.E73D|uc010ysf.2,p.E73D|ENST00000361291,p.E107D|NM_001164883,p.E73D|ENST00000541047,p.E73D|ENST00000409971,p.E73D|NM_004389,p.E73D|NM_001282597,p.E73D|ENST00000540488,p.E73D|NM_001282598,p.E107D|uc010ysh.2,p.E73D|uc010ysg.2,p.E73D|ENST00000402739,p.E73D|uc010yse.2,p.E73D	retained_intron, protein_coding, processed_transcript	uc010ysh.2	nonsynonymous SNV	exon2	c.A219T	p.E73D	AASVEQATQNFLEKGEQIAKESQDL	AASVEQATQNFLDKGEQIAKESQDL	5.0	8.0	unscreened	-	3713_2:79971629-79971629 A>T_AASVEQATQNFLDKGEQIAKESQDL
5:140236739-140236739 C>T	0.0	3713	MELANOMA	-	-	-	-	PCDHA10	NM_031859,p.A369V|NM_031860,p.A369V|ENST00000307360,p.A369V|NM_018901,p.A369V|ENST00000506939,p.A369V|uc003lhw.2,p.A369V|uc011dad.2,p.A369V|uc003lhx.2,p.A369V	protein_coding	uc011dad.2	nonsynonymous SNV	exon1	c.C1106T	p.A369V	PVKEDAQVGTVIALISVSDHDSGAN	PVKEDAQVGTVIVLISVSDHDSGAN	1.0	10.0	unscreened	-	3713_5:140236739-140236739 C>T_PVKEDAQVGTVIVLISVSDHDSGAN
14:71209217-71209217 G>A	1.0	3713	MELANOMA	-	-	-	-	MAP3K9	ENST00000554752,p.A473V|uc001xml.3,p.A473V|NM_001284230,p.A473V|ENST00000554146,p.A210V|uc010ttk.2,p.A210V|ENST00000553414,p.A167V|ENST00000381250,p.A473V|NM_001284232,p.A167V|NM_033141,p.A473V|NM_001284231,p.A210V|uc001xmk.3,p.A167V|ENST00000555993,p.A473V|uc001xmm.3,p.A473V	retained_intron, protein_coding	uc010ttk.2	nonsynonymous SNV	exon6	c.C629T	p.A210V	QEELLRRREQELAEREIDILERELN	QEELLRRREQELVEREIDILERELN	2.0	1.0	unscreened	-	3713_14:71209217-71209217 G>A_QEELLRRREQELVEREIDILERELN
19:40408298-40408298 G>A	0.0	3713	MELANOMA	-	rs200357016	ID=COSM3933040;OCCURENCE=1(urinary_tract)	-	FCGBP	uc002omp.4,p.A1514V|ENST00000221347,p.A1514V|NM_003890,p.A1514V	protein_coding, processed_transcript	uc002omp.4	nonsynonymous SNV	exon8	c.C4541T	p.A1514V	CSNIHAYVSACQAAGGHVEPWRTET	CSNIHAYVSACQVAGGHVEPWRTET	2.0	1.0	unscreened	-	3713_19:40408298-40408298 G>A_CSNIHAYVSACQVAGGHVEPWRTET
4:70512672-70512672 C>T	0.0	3713	MELANOMA	-	-	-	-	UGT2A1	NM_006798,p.D231N|ENST00000512704,p.D231N|NM_001301239,p.D231N|uc003hem.4,p.D231N|ENST00000503640,p.D231N|uc010iht.3,p.D231N	 processed_transcript,retained_intron, protein_coding	uc010iht.3	nonsynonymous SNV	exon1	c.G691A	p.D231N	QDYMFETLWKSWDSYYSKALGRPTT	QDYMFETLWKSWNSYYSKALGRPTT	1.0	10.0	unscreened	-	3713_4:70512672-70512672 C>T_QDYMFETLWKSWNSYYSKALGRPTT
4:70512672-70512672 C>T	0.0	3713	MELANOMA	-	-	-	-	UGT2A1	ENST00000286604,p.D231N|uc010ihu.3,p.D231N|NM_001252275,p.D231N	 processed_transcript,retained_intron, protein_coding	uc010ihu.3	nonsynonymous SNV	exon2	c.G691A	p.D231N	QDYMFETLWKSWDSYYSKALGGLLL	QDYMFETLWKSWNSYYSKALGGLLL	1.0	10.0	unscreened	-	3713_4:70512672-70512672 C>T_QDYMFETLWKSWNSYYSKALGGLLL
11:78780863-78780863 C>T	0.0	3713	MELANOMA	-	-	-	-	TENM4	ENST00000278550,p.E43K|NM_001098816,p.E43K|uc001ozl.4,p.E43K|uc009yvc.3,p.E43K|uc021qnz.1,p.E43K	retained_intron, protein_coding, processed_transcript	uc021qnz.1	nonsynonymous SNV	exon1	c.G127A	p.E43K	EGKAPQKSYSSSETLKAYDQDARLA	EGKAPQKSYSSSKTLKAYDQDARLA	3.0	2.0	unscreened	-	3713_11:78780863-78780863 C>T_EGKAPQKSYSSSKTLKAYDQDARLA
1:248756279-248756279 G>A	0.0	3713	MELANOMA	-	-	-	-	OR2T10	ENST00000330500,p.S264F|NM_001004693,p.S264F|uc010pzn.2,p.S264F	protein_coding	uc010pzn.2	nonsynonymous SNV	exon1	c.C791T	p.S264F	YGAAIYNYMLPSSYQTPEKDMMSSF	YGAAIYNYMLPSFYQTPEKDMMSSF	1.0	9.0	unscreened	-	3713_1:248756279-248756279 G>A_YGAAIYNYMLPSFYQTPEKDMMSSF
14:80669341-80669341 C>T	1.0	3713	MELANOMA	-	-	-	-	DIO2	ENST00000557125,p.R46Q	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000557125	nonsynonymous SNV	exon2	c.G137A	p.R46Q	STLMRLIHQMAGRYRGTPLCLLR	STLMRLIHQMAGQYRGTPLCLLR	1.0	3.0	unscreened	-	3713_14:80669341-80669341 C>T_STLMRLIHQMAGQYRGTPLCLLR
12:80935910-80935910 C>T	0.0	3713	MELANOMA	-	-	-	-	PTPRQ	ENST00000266688,p.S1159F	retained_intron, protein_coding, processed_transcript	ENST00000266688	nonsynonymous SNV	exon27	c.C3476T	p.S1159F	ETSPIINTFKNLSSTSVLLSWDPPV	ETSPIINTFKNLFSTSVLLSWDPPV	1.0	3.0	unscreened	-	3713_12:80935910-80935910 C>T_ETSPIINTFKNLFSTSVLLSWDPPV
X:44120329-44120329 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1205008;OCCURENCE=1(large_intestine)	-	EFHC2	ENST00000420999,p.R200W|NM_025184,p.R200W|uc004dgb.4,p.R200W	protein_coding	uc004dgb.4	nonsynonymous SNV	exon4	c.C598T	p.R200W	PVQCPEDPYMKIRREVVEHVEPLRP	PVQCPEDPYMKIWREVVEHVEPLRP	1.0	9.0	unscreened	-	3713_X:44120329-44120329 G>A_PVQCPEDPYMKIWREVVEHVEPLRP
1:171605208-171605208 C>T	0.0	3713	MELANOMA	-	-	-	-	MYOC	ENST00000037502,p.G458S|uc001ghu.3,p.G458S|NM_000261,p.G458S|uc010pmk.2,p.G400S	protein_coding	uc010pmk.2	nonsynonymous SNV	exon4	c.G1198A	p.G400S	DATVNFAYDTGTGISKTLTIPFKNR	DATVNFAYDTGTSISKTLTIPFKNR	1.0	5.0	unscreened	-	3713_1:171605208-171605208 C>T_DATVNFAYDTGTSISKTLTIPFKNR
12:27533314-27533314 T>C	0.0	3713	MELANOMA	-	-	-	-	ARNTL2	uc001rhu.2,p.V140A|uc001rht.2,p.V154A|ENST00000395901,p.V117A|ENST00000261178,p.V106A|uc010sjp.2,p.V117A|ENST00000266503,p.V154A|ENST00000311001,p.V140A|uc009zji.2,p.V120A|NM_001248004,p.V106A|NM_001248005,p.V117A|NM_020183,p.V154A|ENST00000546179,p.V117A|ENST00000542388,p.V69A|NM_001248003,p.V117A|ENST00000544915,p.V120A|NM_001248002,p.V140A|uc001rhv.2,p.V106A|uc001rhw.3,p.V117A	protein_coding, processed_transcript	uc010sjp.2	nonsynonymous SNV	exon3	c.T350C	p.V117A	RKLDKLTVLRMAVQHLRSLKGLTNS	RKLDKLTVLRMAAQHLRSLKGLTNS	2.0	9.0	unscreened	-	3713_12:27533314-27533314 T>C_RKLDKLTVLRMAAQHLRSLKGLTNS
19:15839493-15839493 C>T	0.0	3713	MELANOMA	-	-	-	-	OR10H2	NM_013939,p.L214F|ENST00000305899,p.L214F|uc002nbm.2,p.L214F	protein_coding	uc002nbm.2	nonsynonymous SNV	exon1	c.C640T	p.L214F	LVCIMALLGCFLLILLSYAFIVADI	LVCIMALLGCFLFILLSYAFIVADI	1.0	5.0	unscreened	-	3713_19:15839493-15839493 C>T_LVCIMALLGCFLFILLSYAFIVADI
2:196852740-196852740 T>A	0.0	3713	MELANOMA	-	-	-	-	DNAH7	uc002utj.4,p.I523L|ENST00000312428,p.I523L|NM_018897,p.I523L	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon13	c.A1567T	p.I523L	NFLAENHSYEKIIDEICKYQKLIEE	NFLAENHSYEKILDEICKYQKLIEE	1.0	10.0	unscreened	-	3713_2:196852740-196852740 T>A_NFLAENHSYEKILDEICKYQKLIEE
10:105138125-105138125 C>A	1.0	3713	MELANOMA	-	-	-	-	TAF5	uc001kwv.3,p.R311S|ENST00000351396,p.R311S|uc010qqq.2,p.R311S|NM_006951,p.R311S|ENST00000369839,p.R311S	protein_coding	uc010qqq.2	nonsynonymous SNV	exon3	c.C931A	p.R311S	DFRTSKFVLRISRDSYQLLKRHLQE	DFRTSKFVLRISSDSYQLLKRHLQE	3.0	4.0	unscreened	-	3713_10:105138125-105138125 C>A_DFRTSKFVLRISSDSYQLLKRHLQE
2:152417188-152417188 C>T	1.0	3713	MELANOMA	-	-	-	-	NEB	NM_001271208,p.R6411K|ENST00000409198,p.R4710K|ENST00000172853,p.R4710K|NM_001164508,p.R6411K|uc031rpp.1,p.R6411K|ENST00000604864,p.R6411K|ENST00000427231,p.R6411K|ENST00000397345,p.R6411K|uc002txu.3,p.R6411K|uc021vrd.1,p.R4710K|NM_001164507,p.R6411K|uc021vrc.1,p.R6411K|ENST00000603639,p.R6411K|uc021vrb.1,p.R4710K|ENST00000413693,p.R1141K|uc002txr.3,p.R1176K	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon124	c.G19232A	p.R6411K	LYSSNLYKEAWDRVKATSYILPSST	LYSSNLYKEAWDKVKATSYILPSST	2.0	4.0	unscreened	-	3713_2:152417188-152417188 C>T_LYSSNLYKEAWDKVKATSYILPSST
8:21986157-21986157 G>A	0.0	3713	MELANOMA	-	-	-	-	HR	ENST00000312841,p.P176L|NM_018411,p.P176L|uc003xas.3,p.P176L|NM_005144,p.P176L|uc003xat.3,p.P176L|uc010lts.2,p.P176L|ENST00000381418,p.P176L	retained_intron, protein_coding, processed_transcript	uc010lts.2	nonsynonymous SNV	exon2	c.C527T	p.P176L	PPYLVSGLPPEHPCDWPLTPHPWVY	PPYLVSGLPPEHLCDWPLTPHPWVY	2.0	3.0	unscreened	-	3713_8:21986157-21986157 G>A_PPYLVSGLPPEHLCDWPLTPHPWVY
3:114070497-114070497 G>A	0.0	3713	MELANOMA	-	-	-	-	ZBTB20	uc003ebi.3,p.P143L|ENST00000481632,p.P70L|NM_001164342,p.P143L|NM_001164347,p.P70L|NM_001164345,p.P70L|ENST00000357258,p.P70L|uc003ebn.3,p.P70L|NM_001164344,p.P70L|NM_001164343,p.P70L|ENST00000464560,p.P70L|uc003ebm.3,p.P70L|uc003ebl.3,p.P70L|ENST00000393785,p.P70L|ENST00000462705,p.P70L|NM_015642,p.P70L|uc003ebk.3,p.P70L|ENST00000474710,p.P143L|NM_001164346,p.P70L|uc003ebj.3,p.P70L|uc010hqp.3,p.P70L|ENST00000471418,p.P70L	protein_coding, processed_transcript	uc010hqp.3	nonsynonymous SNV	exon5	c.C209T	p.P70L	DKLLLGYSDIEIPSVVSVQSVQKLI	DKLLLGYSDIEILSVVSVQSVQKLI	2.0	9.0	unscreened	-	3713_3:114070497-114070497 G>A_DKLLLGYSDIEILSVVSVQSVQKLI
16:31338223-31338223 G>A	0.0	3713	MELANOMA	-	-	-	-	ITGAM	uc010can.3,p.G298E|NM_000632,p.G892E|uc002ebq.3,p.G892E|uc002ebr.3,p.G893E|ENST00000287497,p.G892E|NM_001145808,p.G893E|ENST00000544665,p.G893E	retained_intron, protein_coding	uc010can.3	nonsynonymous SNV	exon9	c.G893A	p.G298E	NITFDVDSKASLGNKLLLKANVTSE	NITFDVDSKASLENKLLLKANVTSE	5.0	7.0	unscreened	-	3713_16:31338223-31338223 G>A_NITFDVDSKASLENKLLLKANVTSE
20:10030241-10030241 G>A	0.0	3713	MELANOMA	-	-	-	-	ANKEF1	uc002wno.3,p.E342K|uc002wnp.3,p.E342K|ENST00000378380,p.E342K|NM_022096,p.E342K|uc010gbz.3,p.E153K|NM_198798,p.E342K|ENST00000378392,p.E342K	protein_coding, processed_transcript	uc010gbz.3	nonsynonymous SNV	exon7	c.G457A	p.E153K	HDWSVEREAFLREAFAVLDRGDGSI	HDWSVEREAFLRKAFAVLDRGDGSI	1.0	7.0	unscreened	-	3713_20:10030241-10030241 G>A_HDWSVEREAFLRKAFAVLDRGDGSI
2:186654847-186654847 C>T	0.0	3713	MELANOMA	-	-	-	-	FSIP2	ENST00000424728,p.P995L|uc002upl.3,p.P1084L|NM_173651,p.P1084L|ENST00000343098,p.P1084L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon16	c.C3251T	p.P1084L	PRSGRPFPPINVPGMVLYSDDENEE	PRSGRPFPPINVLGMVLYSDDENEE	1.0	4.0	unscreened	-	3713_2:186654847-186654847 C>T_PRSGRPFPPINVLGMVLYSDDENEE
15:89401314-89401314 A>T	0.0	3713	MELANOMA	-	-	-	-	ACAN	NM_013227,p.D1833V|uc010upp.1,p.D1833V|uc010upo.1,p.D1833V|ENST00000439576,p.D1833V|ENST00000352105,p.D1833V|NM_001135,p.D1833V|ENST00000561243,p.D1833V|ENST00000559004,p.D1833V	retained_intron, protein_coding	uc010upp.1	nonsynonymous SNV	exon12	c.A5498T	p.D1833V	SGSGESSGITFVDTSLVEVAPTTFK	SGSGESSGITFVVTSLVEVAPTTFK	2.0	7.0	unscreened	-	3713_15:89401314-89401314 A>T_SGSGESSGITFVVTSLVEVAPTTFK
3:7188344-7188344 C>T	0.0	3713	MELANOMA	-	-	-	-	GRM7	uc003bqm.2,p.S242F|ENST00000448328,p.S34F|ENST00000389335,p.S242F|ENST00000357716,p.S242F|uc010hcg.2,p.S242F|ENST00000402647,p.S242F|ENST00000389336,p.S242F|NM_181874,p.S242F|ENST00000403881,p.S242F|uc003bql.2,p.S242F|ENST00000486284,p.S242F|NM_000844,p.S242F|ENST00000467425,p.S242F|ENST00000440923,p.S242F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hcg.2	nonsynonymous SNV	exon2	c.C725T	p.S242F	YGEKGVESFTQISKEAGGLCIAQSV	YGEKGVESFTQIFKEAGGLCIAQSV	1.0	9.0	unscreened	-	3713_3:7188344-7188344 C>T_YGEKGVESFTQIFKEAGGLCIAQSV
2:185802645-185802645 C>T	0.0	3713	MELANOMA	-	-	-	-	ZNF804A	uc002uph.3,p.S841F|NM_194250,p.S841F|ENST00000302277,p.S841F	protein_coding	uc002uph.3	nonsynonymous SNV	exon4	c.C2522T	p.S841F	KENTDYPVKDNSSLNPLDRLISEDK	KENTDYPVKDNSFLNPLDRLISEDK	1.0	10.0	unscreened	-	3713_2:185802645-185802645 C>T_KENTDYPVKDNSFLNPLDRLISEDK
2:84908638-84908638 C>T	0.0	3713	MELANOMA	-	-	-	-	DNAH6	NM_001370,p.S2301F|ENST00000389394,p.S2301F|ENST00000237449,p.S2301F|uc010fgb.3,p.S2301F	retained_intron, protein_coding, processed_transcript	uc010fgb.3	nonsynonymous SNV	exon42	c.C6902T	p.S2301F	AKSHYVFNLRDLSKCVQGILQCDPG	AKSHYVFNLRDLFKCVQGILQCDPG	1.0	10.0	unscreened	-	3713_2:84908638-84908638 C>T_AKSHYVFNLRDLFKCVQGILQCDPG
1:144865845-144865845 C>T	1.0	3713	MELANOMA	-	-	ID=COSM1583334,COSM1583335,COSM895066;OCCURENCE=1(endometrium)	1	PDE4DIP	uc001elx.4,p.R1806Q|uc001elv.4,p.R919Q|NM_001198834,p.R1912Q|ENST00000369354,p.R1912Q|ENST00000530740,p.R1997Q|uc001elw.4,p.R1912Q|ENST00000369356,p.R1912Q|NM_014644,p.R1912Q|ENST00000369359,p.R2048Q|ENST00000313382,p.R1806Q|NM_001198832,p.R1806Q|uc001ema.3,p.R99Q|uc021ouh.1,p.R1912Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ouh.1	nonsynonymous SNV	exon35	c.G5735A	p.R1912Q	LCNENRVLREDNRRLQAQLSHVSRE	LCNENRVLREDNQRLQAQLSHVSRE	10.0	1.0	-	-	3713_1:144865845-144865845 C>T_LCNENRVLREDNQRLQAQLSHVSRE
1:170521499-170521499 C>T	1.0	3713	MELANOMA	-	-	ID=COSM677209;OCCURENCE=1(lung)	-	GORAB	uc009wvx.2,p.P181S|ENST00000367763,p.P361S|uc001ghb.2,p.P181S|uc001ghd.2,p.P154S|NM_152281,p.P361S|uc001ghc.2,p.P181S|uc001gha.2,p.P361S	protein_coding, processed_transcript	uc009wvx.2	nonsynonymous SNV	exon5	c.C541T	p.P181S	KENRKCQEQAVSPKVDDQCGNSSSI	KENRKCQEQAVSSKVDDQCGNSSSI	7.0	9.0	-	-	3713_1:170521499-170521499 C>T_KENRKCQEQAVSSKVDDQCGNSSSI
16:68597118-68597118 C>T	1.0	3713	MELANOMA	-	-	-	-	ZFP90	ENST00000398253,p.S143F|NM_133458,p.S143F|ENST00000570495,p.S143F|uc002ewd.3,p.S143F|uc002ewe.3,p.S143F|uc010cff.3,p.S143F|ENST00000563169,p.S143F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cff.3	nonsynonymous SNV	exon5	c.C428T	p.S143F	QENWKRHLGSEASTQKKIITPQENF	QENWKRHLGSEAFTQKKIITPQENF	3.0	3.0	-	-	3713_16:68597118-68597118 C>T_QENWKRHLGSEAFTQKKIITPQENF
8:133099956-133099956 T>C	0.0	3713	MELANOMA	-	-	-	-	HHLA1	uc011liy.1,p.E207G|ENST00000414222,p.E207G|NM_001145095,p.E207G|ENST00000434736,p.E243G	retained_intron, protein_coding	uc011liy.1	nonsynonymous SNV	exon9	c.A620G	p.E207G	KSGRNLSDFWEIEEKYPIINYTFTS	KSGRNLSDFWEIGEKYPIINYTFTS	1.0	5.0	unscreened	-	3713_8:133099956-133099956 T>C_KSGRNLSDFWEIGEKYPIINYTFTS
7:86468442-86468442 G>A	0.0	3713	MELANOMA	-	-	ID=COSM229505;OCCURENCE=2(skin)	2	GRM3	ENST00000361669,p.E538K|uc010leh.3,p.E130K|uc003uid.3,p.E538K|ENST00000546348,p.E130K|NM_000840,p.E538K|uc010leg.3,p.E410K|ENST00000536043,p.E410K	protein_coding	uc010leh.3	nonsynonymous SNV	exon2	c.G388A	p.E130K	VCCWICIPCEPYEYLADEFTCMDCG	VCCWICIPCEPYKYLADEFTCMDCG	1.0	9.0	unscreened	-	3713_7:86468442-86468442 G>A_VCCWICIPCEPYKYLADEFTCMDCG
X:150349144-150349144 G>A	0.0	3713	MELANOMA	-	-	-	-	GPR50	ENST00000218316,p.M363I|uc010ntg.2,p.M363I|NM_004224,p.M363I	protein_coding	uc010ntg.2	nonsynonymous SNV	exon2	c.G1089A	p.M363I	RAHACPAVEETPMNVRNVPLPGDAA	RAHACPAVEETPINVRNVPLPGDAA	1.0	10.0	unscreened	-	3713_X:150349144-150349144 G>A_RAHACPAVEETPINVRNVPLPGDAA
13:33017980-33017980 G>A	1.0	3713	MELANOMA	-	-	ID=COSM1717506;OCCURENCE=2(NS),1(ovary)	-	N4BP2L2	uc001uug.2,p.P115S|ENST00000505213,p.P661S|NM_001278432,p.P217S|uc010tdz.1,p.P217S|ENST00000504114,p.P217S|ENST00000357505,p.P217S|uc010abd.1,p.P145S|NM_033111,p.P232S|uc001uuh.2,p.P63S|uc010abe.1,p.P232S|ENST00000399396,p.P232S	retained_intron, protein_coding, processed_transcript	uc010tdz.1	nonsynonymous SNV	exon7	c.C649T	p.P217S	TGYKEKRWKNKDPKDSFQNVMSIVE	TGYKEKRWKNKDSKDSFQNVMSIVE	10.0	7.0	-	-	3713_13:33017980-33017980 G>A_TGYKEKRWKNKDSKDSFQNVMSIVE
7:141954928-141954928 G>A	0.0	3713	MELANOMA	-	-	-	-	PRSS58	ENST00000552471,p.S128F|NM_001001317,p.S128F|uc003vxc.4,p.S128F|uc003vxb.3,p.S128F|ENST00000547058,p.S128F	protein_coding	uc003vxc.4	nonsynonymous SNV	exon4	c.C383T	p.S128F	YVKLANLPYQTISENTMCSVSTWSY	YVKLANLPYQTIFENTMCSVSTWSY	1.0	7.0	unscreened	-	3713_7:141954928-141954928 G>A_YVKLANLPYQTIFENTMCSVSTWSY
5:9066727-9066727 G>A	0.0	3713	MELANOMA	-	-	-	-	SEMA5A	uc003jek.2,p.P702L|NM_003966,p.P702L|ENST00000382496,p.P702L	protein_coding, nonsense_mediated_decay	uc003jek.2	nonsynonymous SNV	exon17	c.C2105T	p.P702L	NVEYQSCNTNPCPELKKTTPWTPWT	NVEYQSCNTNPCLELKKTTPWTPWT	2.0	10.0	unscreened	-	3713_5:9066727-9066727 G>A_NVEYQSCNTNPCLELKKTTPWTPWT
9:119065135-119065135 G>A	1.0	3713	MELANOMA	-	-	-	-	PAPPA	uc011lxq.2,p.G393E|ENST00000328252,p.G1018E|uc011lxp.1,p.G713E|NM_002581,p.G1018E|uc004bjn.3,p.G1018E|ENST00000534838,p.G56E	protein_coding, processed_transcript	uc011lxq.2	nonsynonymous SNV	exon4	c.G1178A	p.G393E	TSIKDCGVYTPQGFLDQWASNASVS	TSIKDCGVYTPQEFLDQWASNASVS	1.0	8.0	-	-	3713_9:119065135-119065135 G>A_TSIKDCGVYTPQEFLDQWASNASVS
1:157514702-157514702 C>T	0.0	3713	MELANOMA	-	-	-	-	FCRL5	ENST00000368190,p.D160N|uc010phw.1,p.D75N|ENST00000361835,p.D160N|uc001fqv.1,p.D160N|ENST00000356953,p.D160N|uc010phv.1,p.D160N|uc009wsm.3,p.D160N|NM_031281,p.D160N|ENST00000368189,p.D160N|NM_001195388,p.D160N|ENST00000368191,p.D75N|uc001fqu.3,p.D160N	protein_coding, processed_transcript	uc010phw.1	nonsynonymous SNV	exon3	c.G223A	p.D75N	RTDFHIPHACLKDNGAYRCTGYKES	RTDFHIPHACLKNNGAYRCTGYKES	8.0	2.0	unscreened	-	3713_1:157514702-157514702 C>T_RTDFHIPHACLKNNGAYRCTGYKES
15:72119235-72119235 G>T	1.0	3713	MELANOMA	0.0005	-	-	-	MYO9A	ENST00000424560,p.H2516N|ENST00000444904,p.H2426N|uc002atk.3,p.H1240N|NM_006901,p.H2445N|ENST00000356056,p.H2445N|uc002atl.5,p.H2445N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002atl.5	nonsynonymous SNV	exon42	c.C7333A	p.H2445N	VSSLCLSNTASSHGTRKLFQIYSKS	VSSLCLSNTASSNGTRKLFQIYSKS	6.0	1.0	-	-	3713_15:72119235-72119235 G>T_VSSLCLSNTASSNGTRKLFQIYSKS
6:136500196-136500196 G>A	1.0	3713	MELANOMA	-	-	-	-	PDE7B	ENST00000308191,p.E289K|NM_018945,p.E289K|uc003qgr.3,p.E341K|uc003qgp.3,p.E289K	protein_coding	uc003qgr.3	nonsynonymous SNV	exon9	c.G1021A	p.E341K	SLILATDINRQNEFLTRLKAHLHNK	SLILATDINRQNKFLTRLKAHLHNK	2.0	10.0	-	-	3713_6:136500196-136500196 G>A_SLILATDINRQNKFLTRLKAHLHNK
X:11317037-11317037 C>T	0.0	3713	MELANOMA	-	-	-	-	AMELX	NM_182681,p.P156S|ENST00000380712,p.P186S|uc004cut.3,p.P172S|NM_001142,p.P172S|uc004cus.3,p.P186S|NM_182680,p.P186S|uc004cuu.3,p.P156S|ENST00000380714,p.P172S|ENST00000348912,p.P156S	protein_coding	uc004cuu.3	nonsynonymous SNV	exon4	c.C466T	p.P156S	PMFPMQPLPPMLPDLTLEAWPSTDK	PMFPMQPLPPMLSDLTLEAWPSTDK	1.0	10.0	unscreened	-	3713_X:11317037-11317037 C>T_PMFPMQPLPPMLSDLTLEAWPSTDK
3:195516253-195516253 G>T	0.0	3713	MELANOMA	-	-	-	2	MUC4	ENST00000477756,p.S733Y|ENST00000479406,p.S733Y|ENST00000475231,p.S733Y|ENST00000462323,p.S733Y|ENST00000480843,p.S733Y|NM_018406,p.S733Y|ENST00000463781,p.S733Y|uc021xjq.1,p.S615Y|ENST00000477086,p.S733Y|ENST00000478156,p.S733Y|ENST00000466475,p.S733Y|uc021xjp.1,p.S733Y|ENST00000470451,p.S733Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjq.1	nonsynonymous SNV	exon1	c.C1844A	p.S615Y	DATLGPSGGTSLSKTGALTLANSVV	DATLGPSGGTSLYKTGALTLANSVV	1.0	3.0	unscreened	-	3713_3:195516253-195516253 G>T_DATLGPSGGTSLYKTGALTLANSVV
6:17292195-17292195 G>A	0.0	3713	MELANOMA	-	-	-	-	RBM24	ENST00000425446,p.G128R|NM_001143941,p.G128R|uc011dix.2,p.G128R|uc003nbz.4,p.G186R|ENST00000379052,p.G186R|uc003nca.3,p.G141R|ENST00000318204,p.G141R|NM_153020,p.G141R|NM_001143942,p.G186R	protein_coding, processed_transcript	uc011dix.2	nonsynonymous SNV	exon4	c.G382A	p.G128R	DQYPYAASPAAAGYVTAGGYGYAVQ	DQYPYAASPAAARYVTAGGYGYAVQ	1.0	1.0	unscreened	-	3713_6:17292195-17292195 G>A_DQYPYAASPAAARYVTAGGYGYAVQ
2:234627728-234627728 G>A	0.0	3713	MELANOMA	-	-	-	-	UGT1A4	NM_007120,p.E88K|uc010zna.1,p.E88K|ENST00000450233,p.E88K|ENST00000373409,p.E88K|uc002vux.3,p.E88K	protein_coding, nonsense_mediated_decay	uc010zna.1	nonsynonymous SNV	exon1	c.G262A	p.E88K	TLTAYAVPWTQKEFDRVTLGYTQGF	TLTAYAVPWTQKKFDRVTLGYTQGF	1.0	10.0	unscreened	-	3713_2:234627728-234627728 G>A_TLTAYAVPWTQKKFDRVTLGYTQGF
7:142723646-142723646 C>T	0.0	3713	MELANOMA	-	-	-	-	OR9A2	NM_001001658,p.E192K|ENST00000350513,p.E192K|uc003wcc.1,p.E192K	protein_coding	uc003wcc.1	nonsynonymous SNV	exon1	c.G574A	p.E192K	LLKLSCDNTLLTEFILFLMAVFILI	LLKLSCDNTLLTKFILFLMAVFILI	1.0	5.0	unscreened	-	3713_7:142723646-142723646 C>T_LLKLSCDNTLLTKFILFLMAVFILI
4:77816953-77816953 C>A	0.0	3713	MELANOMA	-	-	-	-	SOWAHB	NM_001029870,p.G684W|uc003hki.3,p.G684W|ENST00000334306,p.G684W	protein_coding	uc003hki.3	nonsynonymous SNV	exon1	c.G2050T	p.G684W	TPLHLAAIHGHQGVIKLLVQRLASR	TPLHLAAIHGHQWVIKLLVQRLASR	1.0	10.0	unscreened	-	3713_4:77816953-77816953 C>A_TPLHLAAIHGHQWVIKLLVQRLASR
3:164908425-164908425 C>T	0.0	3713	MELANOMA	-	-	-	-	SLITRK3	uc021xgy.1,p.G65E|ENST00000475390,p.G65E|uc003fej.4,p.G65E|ENST00000497724,p.G65E|NM_014926,p.G65E|uc003fek.3,p.G65E|ENST00000241274,p.G65E	protein_coding	uc021xgy.1	nonsynonymous SNV	exon1	c.G194A	p.G65E	KESLFHIHCDSKGFTNISQITEFWS	KESLFHIHCDSKEFTNISQITEFWS	1.0	3.0	unscreened	-	3713_3:164908425-164908425 C>T_KESLFHIHCDSKEFTNISQITEFWS
3:125271508-125271508 A>T	1.0	3713	MELANOMA	-	-	-	-	OSBPL11	ENST00000296220,p.F391I|NM_022776,p.F391I|uc003eic.3,p.F391I	protein_coding	uc003eic.3	nonsynonymous SNV	exon9	c.T1171A	p.F391I	LGMDLTRVVLPTFILEKRSLLEMYA	LGMDLTRVVLPTIILEKRSLLEMYA	3.0	7.0	-	-	3713_3:125271508-125271508 A>T_LGMDLTRVVLPTIILEKRSLLEMYA
1:47401286-47401286 G>A	0.0	3713	MELANOMA	-	-	-	-	CYP4A11	ENST00000457840,p.P78S|uc001cqp.4,p.P182S|ENST00000310638,p.P182S|NM_000778,p.P182S|uc001cqq.2,p.P182S|ENST00000371905,p.P182S|ENST00000371904,p.P182S	protein_coding, processed_transcript	uc001cqq.2	nonsynonymous SNV	exon5	c.C544T	p.P182S	LDKWEELLGQDSPLEVFQHVSLMTL	LDKWEELLGQDSSLEVFQHVSLMTL	1.0	9.0	unscreened	-	3713_1:47401286-47401286 G>A_LDKWEELLGQDSSLEVFQHVSLMTL
14:95670665-95670665 C>T	1.0	3713	MELANOMA	-	-	-	-	CLMN	uc001yef.2,p.E341K|ENST00000298912,p.E341K|NM_024734,p.E341K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001yef.2	nonsynonymous SNV	exon9	c.G1021A	p.E341K	TENGERTYTVNHETSHPPPSKVFVC	TENGERTYTVNHKTSHPPPSKVFVC	7.0	3.0	-	-	3713_14:95670665-95670665 C>T_TENGERTYTVNHKTSHPPPSKVFVC
3:100328762-100328762 C>T	0.0	3713	MELANOMA	-	-	-	-	GPR128	NM_032787,p.T21I|ENST00000273352,p.T21I|uc003duc.3,p.T21I	protein_coding, processed_transcript	uc003duc.3	nonsynonymous SNV	exon1	c.C62T	p.T21I	LRVLVAVVCGLLTGIILGLGIWRIV	LRVLVAVVCGLLIGIILGLGIWRIV	1.0	7.0	unscreened	-	3713_3:100328762-100328762 C>T_LRVLVAVVCGLLIGIILGLGIWRIV
15:66220865-66220865 C>T	0.0	3713	MELANOMA	-	-	-	-	MEGF11	ENST00000422354,p.D525N|ENST00000360698,p.D525N|NM_032445,p.D525N|ENST00000288745,p.D450N|uc002apm.2,p.D525N|uc002apn.1,p.D525N|uc002apl.2,p.D450N|ENST00000409699,p.D525N|ENST00000395625,p.D450N|ENST00000490495,p.D229N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002apn.1	nonsynonymous SNV	exon13	c.G1573A	p.D525N	GWLGDTCELPCPDGTFGLNCSEHCD	GWLGDTCELPCPNGTFGLNCSEHCD	1.0	9.0	unscreened	-	3713_15:66220865-66220865 C>T_GWLGDTCELPCPNGTFGLNCSEHCD
7:95625320-95625320 G>A	0.0	3713	MELANOMA	-	-	-	-	DYNC1I1	uc003uoc.4,p.G319R|NM_004411,p.G319R|NM_001278421,p.G299R|NM_001278422,p.G282R|uc003uob.3,p.G282R|ENST00000324972,p.G319R|uc003uoe.4,p.G299R|ENST00000457059,p.G302R|uc003uod.4,p.G302R|ENST00000447467,p.G302R|ENST00000359388,p.G282R|NM_001135556,p.G302R|ENST00000437599,p.G299R|uc010lfl.3,p.G308R|ENST00000537881,p.G282R|NM_001135557,p.G282R	protein_coding, processed_transcript	uc010lfl.3	nonsynonymous SNV	exon10	c.G922A	p.G308R	YNNNEDAPHEPDGVALVWNMKFKKT	YNNNEDAPHEPDRVALVWNMKFKKT	1.0	5.0	unscreened	-	3713_7:95625320-95625320 G>A_YNNNEDAPHEPDRVALVWNMKFKKT
21:15884796-15884796 C>T	0.0	3713	MELANOMA	-	-	-	-	SAMSN1	uc002yju.2,p.M126I|NM_001286523,p.M57I|uc002yjv.1,p.M194I|NM_022136,p.M126I|ENST00000285670,p.M194I|NM_001256370,p.M194I|ENST00000400566,p.M126I	protein_coding, processed_transcript	uc002yjv.1	nonsynonymous SNV	exon5	c.G582A	p.M194I	HTEKVSLKASDSMDSLYSGQSSSSG	HTEKVSLKASDSIDSLYSGQSSSSG	5.0	9.0	unscreened	-	3713_21:15884796-15884796 C>T_HTEKVSLKASDSIDSLYSGQSSSSG
8:145095193-145095193 C>T	0.0	3713	MELANOMA	-	-	-	-	SPATC1	ENST00000377470,p.L199F|ENST00000447830,p.L199F|uc011lkx.2,p.L199F|uc011lkw.2,p.L199F|NM_198572,p.L199F|NM_001134374,p.L199F	protein_coding	uc011lkx.2	nonsynonymous SNV	exon2	c.C595T	p.L199F	VMGTVAVSLSSPLLSSTATPPGVSQ	VMGTVAVSLSSPFLSSTATPPGVSQ	2.0	10.0	unscreened	-	3713_8:145095193-145095193 C>T_VMGTVAVSLSSPFLSSTATPPGVSQ
8:99440970-99440970 T>C	0.0	3713	MELANOMA	-	-	-	-	KCNS2	ENST00000521839,p.F255L|ENST00000287042,p.F255L|uc022azb.1,p.F255L|NM_020697,p.F255L|uc003yin.3,p.F255L	protein_coding	uc022azb.1	nonsynonymous SNV	exon1	c.T763C	p.F255L	VARFAVAPDFLKFFKNALNLIDLMS	VARFAVAPDFLKLFKNALNLIDLMS	1.0	10.0	unscreened	-	3713_8:99440970-99440970 T>C_VARFAVAPDFLKLFKNALNLIDLMS
2:125262047-125262047 C>T	0.0	3713	MELANOMA	-	-	-	-	CNTNAP5	uc010flu.3,p.S414L|uc002tno.3,p.S413L|ENST00000431078,p.S413L|NM_130773,p.S413L	retained_intron, protein_coding, processed_transcript	uc010flu.3	nonsynonymous SNV	exon8	c.C1241T	p.S414L	DGLLLSTELSEGSGTLLLSLEGGIL	DGLLLSTELSEGLGTLLLSLEGGIL	1.0	7.0	unscreened	-	3713_2:125262047-125262047 C>T_DGLLLSTELSEGLGTLLLSLEGGIL
2:141250233-141250233 G>A	0.0	3713	MELANOMA	-	-	-	1	LRP1B	NM_018557,p.H3022Y|uc002tvj.1,p.H3022Y|ENST00000389484,p.H3022Y	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon57	c.C9064T	p.H3022Y	LSDEEPFLILADHHEIRKISTDGSN	LSDEEPFLILADYHEIRKISTDGSN	1.0	7.0	unscreened	-	3713_2:141250233-141250233 G>A_LSDEEPFLILADYHEIRKISTDGSN
2:179489212-179489212 G>A	0.0	3713	MELANOMA	-	-	-	-	TTN	uc021vsz.2,p.S6059F|NM_133378,p.S12364F|ENST00000589042,p.S14932F|NM_001256850,p.S13291F|ENST00000460472,p.S5867F|uc021vsy.2,p.S12364F|NM_003319,p.S5867F|ENST00000342992,p.S12364F|ENST00000591111,p.S13291F|NM_001267550,p.S14932F|NM_133432,p.S5992F|uc031rqc.1,p.S14932F|uc031rqd.1,p.S13291F|ENST00000342175,p.S6059F|uc021vta.2,p.S5992F|NM_133437,p.S6059F|uc021vtb.2,p.S5867F|ENST00000359218,p.S5992F	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon192	c.C39872T	p.S13291F	KTYTCDAKDFKTSCNLNVVPPHVEF	KTYTCDAKDFKTFCNLNVVPPHVEF	1.0	10.0	unscreened	-	3713_2:179489212-179489212 G>A_KTYTCDAKDFKTFCNLNVVPPHVEF
8:144941795-144941795 C>T	1.0	3713	MELANOMA	-	-	-	-	EPPK1	NM_031308,p.G1876E|ENST00000525985,p.G1876E|uc003zaa.1,p.G1876E	protein_coding	uc003zaa.1	nonsynonymous SNV	exon1	c.G5627A	p.G1876E	VIDQKTLHTLRVGRTGGQALSTLEC	VIDQKTLHTLRVERTGGQALSTLEC	1.0	10.0	unscreened	-	3713_8:144941795-144941795 C>T_VIDQKTLHTLRVERTGGQALSTLEC
4:148968175-148968175 G>A	1.0	3713	MELANOMA	-	-	-	-	ARHGAP10	uc003ilf.3,p.G667E|NM_024605,p.G667E|uc003ili.3,p.G100E|ENST00000336498,p.G667E|uc003ilh.3,p.G248E	retained_intron, protein_coding, processed_transcript	uc003ili.3	nonsynonymous SNV	exon2	c.G299A	p.G100E	PGPDKNHLLADGGSFGDWASTIPGQ	PGPDKNHLLADGESFGDWASTIPGQ	2.0	6.0	unscreened	-	3713_4:148968175-148968175 G>A_PGPDKNHLLADGESFGDWASTIPGQ
11:65650743-65650743 G>A	0.0	3713	MELANOMA	-	-	-	-	CTSW	uc001ogc.1,p.D290N|ENST00000307886,p.D290N|NM_001335,p.D290N|ENST00000528419,p.D290N	retained_intron, protein_coding	uc001ogc.1	nonsynonymous SNV	exon9	c.G868A	p.D290N	KATPTTCDPQLVDHSVLLVGFGSVK	KATPTTCDPQLVNHSVLLVGFGSVK	2.0	10.0	unscreened	-	3713_11:65650743-65650743 G>A_KATPTTCDPQLVNHSVLLVGFGSVK
2:107041700-107041700 T>C	0.0	3713	MELANOMA	-	-	-	2	RGPD3	uc010ywi.1,p.K908R|ENST00000409886,p.K908R|ENST00000304514,p.K908R|NM_001144013,p.K908R	retained_intron, protein_coding	uc010ywi.1	nonsynonymous SNV	exon20	c.A2723G	p.K908R	VTPTKGSSNTEFKSTKEGFSIPVSA	VTPTKGSSNTEFRSTKEGFSIPVSA	3.0	1.0	unscreened	-	3713_2:107041700-107041700 T>C_VTPTKGSSNTEFRSTKEGFSIPVSA
12:89916858-89916858 G>A	1.0	3713	MELANOMA	-	-	-	-	GALNT4,POC1B-GALNT4	ENST00000548729,p.S487L|uc010suo.2,p.S318L|NM_001199781,p.S487L|NM_003774,p.S490L|ENST00000529983,p.S490L|uc001tbe.3,p.S487L|uc001tbd.3,p.S490L|ENST00000413530,p.S318L|NM_001199782,p.S318L	protein_coding	uc010suo.2	nonsynonymous SNV	exon3	c.C953T	p.S318L	HGQGGNQFFEYTSNKEIRFNSVTEL	HGQGGNQFFEYTLNKEIRFNSVTEL	4.0	4.0	unscreened	-	3713_12:89916858-89916858 G>A_HGQGGNQFFEYTLNKEIRFNSVTEL
7:138453544-138453544 C>T	0.0	3713	MELANOMA	-	-	-	-	ATP6V0A4	ENST00000310018,p.R91Q|ENST00000393054,p.R91Q|uc003vuf.3,p.R91Q|NM_130840,p.R91Q|uc003vug.3,p.R91Q|NM_020632,p.R91Q|uc003vuh.3,p.R91Q|NM_130841,p.R91Q|ENST00000353492,p.R91Q	retained_intron, protein_coding, processed_transcript	uc003vuh.3	nonsynonymous SNV	exon4	c.G272A	p.R91Q	QLLEKSPLTPLPREMITLETVLEKL	QLLEKSPLTPLPQEMITLETVLEKL	2.0	6.0	unscreened	-	3713_7:138453544-138453544 C>T_QLLEKSPLTPLPQEMITLETVLEKL
7:141756675-141756675 G>A	0.0	3713	MELANOMA	-	-	-	-	MGAM	ENST00000475668,p.G1209E|ENST00000549489,p.G1209E|uc003vwy.3,p.G1209E|NM_004668,p.G1209E	retained_intron, protein_coding, processed_transcript	uc003vwy.3	nonsynonymous SNV	exon30	c.G3626A	p.G1209E	FQPLPALTYRTTGGVLDFYVFLGPT	FQPLPALTYRTTEGVLDFYVFLGPT	1.0	7.0	unscreened	-	3713_7:141756675-141756675 G>A_FQPLPALTYRTTEGVLDFYVFLGPT
X:18767927-18767927 C>T	0.0	3713	MELANOMA	-	-	-	-	PPEF1	NM_006240,p.L85F|ENST00000544635,p.L20F|ENST00000543630,p.L85F|uc004cyp.3,p.L85F|NM_152226,p.L85F|NM_152224,p.L85F|ENST00000349874,p.L85F|uc011mja.2,p.L20F|uc011mjb.2,p.L29F|uc004cyr.3,p.L85F|uc004cys.3,p.L85F|uc004cyq.3,p.L85F|ENST00000361511,p.L85F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011mjb.2	nonsynonymous SNV	exon3	c.C85T	p.L29F	IHKEELELRNQSLESEQDMRDRWDY	IHKEELELRNQSFESEQDMRDRWDY	1.0	10.0	unscreened	-	3713_X:18767927-18767927 C>T_IHKEELELRNQSFESEQDMRDRWDY
4:153691234-153691234 G>A	0.0	3713	MELANOMA	-	-	-	-	TIGD4	uc021xtf.1,p.P308L|uc003imy.3,p.P308L|ENST00000304337,p.P308L|NM_145720,p.P308L	protein_coding	uc021xtf.1	nonsynonymous SNV	exon1	c.C923T	p.P308L	VKNLKSIELAFFPSCLSSKCIAMKQ	VKNLKSIELAFFLSCLSSKCIAMKQ	2.0	6.0	unscreened	-	3713_4:153691234-153691234 G>A_VKNLKSIELAFFLSCLSSKCIAMKQ
11:55032413-55032413 G>A	0.0	3713	MELANOMA	-	-	-	-	TRIM48	NM_024114,p.E28K|uc010rid.2,p.E28K|ENST00000417545,p.E28K	protein_coding	uc010rid.2	nonsynonymous SNV	exon2	c.G82A	p.E28K	NMNSGISQVFQRELTCPICMNYFID	NMNSGISQVFQRKLTCPICMNYFID	1.0	9.0	unscreened	-	3713_11:55032413-55032413 G>A_NMNSGISQVFQRKLTCPICMNYFID
19:50155178-50155178 C>T	1.0	3713	MELANOMA	-	-	-	-	SCAF1	uc002poq.3,p.A511V|ENST00000360565,p.A511V|NM_021228,p.A511V	protein_coding	uc002poq.3	nonsynonymous SNV	exon7	c.C1532T	p.A511V	PSPAPAPAPAAAAGPPTRKKSRRER	PSPAPAPAPAAAVGPPTRKKSRRER	6.0	10.0	unscreened	-	3713_19:50155178-50155178 C>T_PSPAPAPAPAAAVGPPTRKKSRRER
1:79403949-79403949 C>T	0.0	3713	MELANOMA	-	-	-	-	ELTD1	uc001diq.4,p.E138K|NM_022159,p.E138K|ENST00000370742,p.E138K	protein_coding	uc001diq.4	nonsynonymous SNV	exon5	c.G412A	p.E138K	INKTLTKIRSIKEPVALLQEVYRNS	INKTLTKIRSIKKPVALLQEVYRNS	3.0	10.0	unscreened	-	3713_1:79403949-79403949 C>T_INKTLTKIRSIKKPVALLQEVYRNS
X:71895960-71895960 C>T	0.0	3713	MELANOMA	-	-	-	-	PHKA1	ENST00000339490,p.G193E|NM_001172436,p.G193E|ENST00000541944,p.G193E|NM_002637,p.G193E|ENST00000373545,p.G193E|NM_001122670,p.G193E|uc004eax.4,p.G193E|uc004eay.4,p.G193E|ENST00000373539,p.G193E|uc011mqi.2,p.G193E|ENST00000373542,p.G193E	protein_coding	uc011mqi.2	nonsynonymous SNV	exon6	c.G578A	p.G193E	FGIWERGDKTNQGISELNASSVGMA	FGIWERGDKTNQEISELNASSVGMA	1.0	10.0	unscreened	-	3713_X:71895960-71895960 C>T_FGIWERGDKTNQEISELNASSVGMA
18:44260090-44260090 G>A	0.0	3713	MELANOMA	-	-	-	-	ST8SIA5	uc002lcj.1,p.A349V|ENST00000315087,p.A349V|ENST00000536490,p.A318V|ENST00000538168,p.A385V|uc010xcz.1,p.A318V|uc010xcy.1,p.A385V|uc002lci.1,p.A196V|NM_013305,p.A349V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xcz.1	nonsynonymous SNV	exon6	c.C953T	p.A318V	YYDNVKPRPGFHAMPSEIFNFLHLH	YYDNVKPRPGFHVMPSEIFNFLHLH	1.0	4.0	unscreened	-	3713_18:44260090-44260090 G>A_YYDNVKPRPGFHVMPSEIFNFLHLH
5:140432922-140432922 G>A	0.0	3713	MELANOMA	-	-	ID=COSM222075;OCCURENCE=1(skin)	-	PCDHB1	NM_013340,p.G623R|ENST00000306549,p.G623R|uc003lik.1,p.G623R	protein_coding	uc003lik.1	nonsynonymous SNV	exon1	c.G1867A	p.G623R	TDLGLFSVQRQNGEIHTLRQISERD	TDLGLFSVQRQNREIHTLRQISERD	1.0	9.0	unscreened	-	3713_5:140432922-140432922 G>A_TDLGLFSVQRQNREIHTLRQISERD
11:30255174-30255174 G>A	0.0	3713	MELANOMA	-	-	-	-	FSHB	NM_001018080,p.E73K|ENST00000254122,p.E73K|ENST00000533718,p.E73K|ENST00000417547,p.E73K|uc001msm.3,p.E73K|uc001msl.3,p.E73K|uc001msn.3,p.E73K|NM_000510,p.E73K	protein_coding	uc001msn.3	nonsynonymous SNV	exon2	c.G217A	p.E73K	ARPKIQKTCTFKELVYETVRVPGCA	ARPKIQKTCTFKKLVYETVRVPGCA	1.0	8.0	unscreened	-	3713_11:30255174-30255174 G>A_ARPKIQKTCTFKKLVYETVRVPGCA
17:48272838-48272838 C>T	1.0	3713	MELANOMA	-	-	-	1	COL1A1	NM_000088,p.G386E|ENST00000225964,p.G386E|uc002iqm.3,p.G386E	retained_intron, protein_coding	uc002iqm.3	nonsynonymous SNV	exon18	c.G1157A	p.G386E	GPPGPAGAAGPAGNPGADGQPGAKG	GPPGPAGAAGPAENPGADGQPGAKG	10.0	3.0	-	-	3713_17:48272838-48272838 C>T_GPPGPAGAAGPAENPGADGQPGAKG
22:20760252-20760252 G>A	1.0	3713	MELANOMA	-	-	-	-	ZNF74	NM_003426,p.G310E|ENST00000405993,p.G278E|uc002zsh.4,p.G310E|uc010gsm.4,p.G310E|NM_001256524,p.G310E|uc010gsn.4,p.G239E|NM_001256525,p.G239E|ENST00000400451,p.G310E|ENST00000356671,p.G310E|uc002zsg.4,p.G239E	retained_intron, protein_coding, nonsense_mediated_decay	uc010gsn.4	nonsynonymous SNV	exon6	c.G716A	p.G239E	HTGEKPFFCGECGKAFSCHSSLNVH	HTGEKPFFCGECEKAFSCHSSLNVH	5.0	3.0	unscreened	-	3713_22:20760252-20760252 G>A_HTGEKPFFCGECEKAFSCHSSLNVH
10:135438647-135438647 C>T	0.0	3713	MELANOMA	-	-	-	-	FRG2B	NM_001080998,p.E265K|uc010qvg.2,p.E265K|ENST00000443774,p.E266K|ENST00000425520,p.E265K	protein_coding, processed_transcript	uc010qvg.2	nonsynonymous SNV	exon4	c.G793A	p.E265K	ALDREAHPFPGQEITETVSGSDEAK	ALDREAHPFPGQKITETVSGSDEAK	1.0	4.0	unscreened	-	3713_10:135438647-135438647 C>T_ALDREAHPFPGQKITETVSGSDEAK
15:54592513-54592513 G>A	0.0	3713	MELANOMA	-	-	-	-	UNC13C	NM_001080534,p.E1404K|uc002acl.3,p.E234K|uc021sms.1,p.E1404K|ENST00000545554,p.E1404K|ENST00000537900,p.E1402K|ENST00000260323,p.E1404K	retained_intron, protein_coding	uc021sms.1	nonsynonymous SNV	exon12	c.G4210A	p.E1404K	EAWKVFFDDASQEIVDEFAMRYGIE	EAWKVFFDDASQKIVDEFAMRYGIE	1.0	9.0	unscreened	-	3713_15:54592513-54592513 G>A_EAWKVFFDDASQKIVDEFAMRYGIE
3:53707813-53707813 T>A	0.0	3713	MELANOMA	-	-	-	1	CACNA1D	ENST00000288139,p.V397D|NM_000720,p.V397D|uc003dgu.5,p.V397D	retained_intron, protein_coding, processed_transcript	uc003dgu.5	nonsynonymous SNV	exon8	c.T1190A	p.V397D	YFVSLIILGSFFVLNLVLGVLSGEF	YFVSLIILGSFFDLNLVLGVLSGEF	1.0	2.0	unscreened	-	3713_3:53707813-53707813 T>A_YFVSLIILGSFFDLNLVLGVLSGEF
12:7527173-7527173 C>T	1.0	3713	MELANOMA	-	-	-	-	CD163L1	uc010sge.2,p.G1102R|ENST00000313599,p.G1092R|NM_001297650,p.G1102R|uc001qsy.3,p.G1092R|NM_174941,p.G1092R|ENST00000396630,p.G1092R|ENST00000416109,p.G1102R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sge.2	nonsynonymous SNV	exon13	c.G3304A	p.G1102R	GVAFNATVSAHFGEGSGPIWLDDLN	GVAFNATVSAHFREGSGPIWLDDLN	1.0	6.0	unscreened	-	3713_12:7527173-7527173 C>T_GVAFNATVSAHFREGSGPIWLDDLN
19:18235168-18235168 G>A	1.0	3713	MELANOMA	-	-	-	-	MAST3	NM_015016,p.E284K|ENST00000262811,p.E284K|uc002nhz.4,p.E284K	retained_intron, protein_coding	uc002nhz.4	nonsynonymous SNV	exon9	c.G850A	p.E284K	LLIIISRPARLLECLEFDPEEFYHL	LLIIISRPARLLKCLEFDPEEFYHL	4.0	10.0	-	-	3713_19:18235168-18235168 G>A_LLIIISRPARLLKCLEFDPEEFYHL
14:76088539-76088539 C>T	0.0	3713	MELANOMA	-	-	-	-	FLVCR2	NM_001195283,p.L58F|NM_017791,p.L263F|ENST00000539311,p.L58F|uc010tvd.1,p.L58F|ENST00000238667,p.L263F|uc001xrs.2,p.L263F	retained_intron, protein_coding, processed_transcript	uc010tvd.1	nonsynonymous SNV	exon2	c.C172T	p.L58F	SIMFYIIGGVATLLLILVIIVFKEK	SIMFYIIGGVATFLLILVIIVFKEK	3.0	9.0	unscreened	-	3713_14:76088539-76088539 C>T_SIMFYIIGGVATFLLILVIIVFKEK
10:106153125-106153125 G>A	0.0	3713	MELANOMA	-	-	-	-	CFAP58	uc001kyh.3,p.M522I|ENST00000369704,p.M522I|NM_001008723,p.M522I	protein_coding	uc001kyh.3	nonsynonymous SNV	exon11	c.G1566A	p.M522I	DEITDMKRKLKIMIHQVDELKEDIS	DEITDMKRKLKIIIHQVDELKEDIS	1.0	6.0	unscreened	-	3713_10:106153125-106153125 G>A_DEITDMKRKLKIIIHQVDELKEDIS
5:122361558-122361558 G>A	1.0	3713	MELANOMA	-	-	-	-	PPIC	ENST00000306442,p.S144F|uc003kth.3,p.S144F|NM_000943,p.S144F	retained_intron, protein_coding	uc003kth.3	nonsynonymous SNV	exon4	c.C431T	p.S144F	VSMANAGPDTNGSQFFITLTKPTWL	VSMANAGPDTNGFQFFITLTKPTWL	2.0	8.0	-	-	3713_5:122361558-122361558 G>A_VSMANAGPDTNGFQFFITLTKPTWL
1:32203326-32203326 G>A	1.0	3713	MELANOMA	-	-	-	-	BAI2	NM_001294336,p.P935S|uc010ogp.2,p.P868S|uc001bto.3,p.P935S|ENST00000257070,p.P935S|ENST00000373655,p.P935S|uc010ogo.2,p.P577S|ENST00000527361,p.P935S|ENST00000440175,p.P577S|uc001btn.3,p.P935S|ENST00000398547,p.P868S|ENST00000398556,p.P883S|NM_001294335,p.P935S|ENST00000373658,p.P935S|uc010ogq.2,p.P935S|ENST00000398542,p.P868S|ENST00000398538,p.P923S	retained_intron, protein_coding, processed_transcript	uc010ogq.2	nonsynonymous SNV	exon17	c.C2803T	p.P935S	DLTLELAGSPSVPLVIGCAVSCMAL	DLTLELAGSPSVSLVIGCAVSCMAL	3.0	2.0	unscreened	-	3713_1:32203326-32203326 G>A_DLTLELAGSPSVSLVIGCAVSCMAL
7:47835742-47835742 C>T	0.0	3713	MELANOMA	-	-	-	-	PKD1L1	uc003tny.2,p.G2734S|ENST00000289672,p.G2734S|NM_138295,p.G2734S	retained_intron, protein_coding, processed_transcript	uc003tny.2	nonsynonymous SNV	exon55	c.G8200A	p.G2734S	IVSATLCFGMLRGFLMTLPQKRKSF	IVSATLCFGMLRSFLMTLPQKRKSF	1.0	9.0	unscreened	-	3713_7:47835742-47835742 C>T_IVSATLCFGMLRSFLMTLPQKRKSF
1:47512254-47512254 G>A	0.0	3713	MELANOMA	-	-	-	-	CYP4X1	uc001cqr.3,p.G396R|ENST00000371901,p.G397R|ENST00000538609,p.G396R|uc001cqs.3,p.G332R|uc001cqt.3,p.G397R|NM_178033,p.G397R	protein_coding, processed_transcript	uc001cqt.3	nonsynonymous SNV	exon9	c.G1189A	p.G397R	SRDLSKPLTFPDGCTLPAGITVVLS	SRDLSKPLTFPDRCTLPAGITVVLS	1.0	2.0	unscreened	-	3713_1:47512254-47512254 G>A_SRDLSKPLTFPDRCTLPAGITVVLS
11:35313946-35313946 G>A	0.0	3713	MELANOMA	-	-	-	-	SLC1A2	ENST00000395750,p.H318Y|ENST00000395753,p.H318Y|uc001mwd.3,p.H327Y|ENST00000278379,p.H327Y|uc010rev.1,p.H327Y|NM_004171,p.H327Y|uc001mwe.3,p.H318Y|ENST00000606205,p.H327Y|uc021qfx.1,p.H318Y|NM_001195728,p.H318Y|NM_001252652,p.H318Y	protein_coding, processed_transcript	uc021qfx.1	nonsynonymous SNV	exon8	c.C952T	p.H318Y	MYMVTVIIGLIIHGGIFLPLIYFVV	MYMVTVIIGLIIYGGIFLPLIYFVV	1.0	3.0	unscreened	-	3713_11:35313946-35313946 G>A_MYMVTVIIGLIIYGGIFLPLIYFVV
1:39920725-39920725 C>T	1.0	3713	MELANOMA	-	-	-	-	MACF1	ENST00000361689,p.P4952S|ENST00000317713,p.P4952S|uc031pme.1,p.P1008S|ENST00000289893,p.P5454S|ENST00000545844,p.P4952S|ENST00000372915,p.P6910S|ENST00000567887,p.P7048S|ENST00000539005,p.P4822S|NM_012090,p.P4952S|ENST00000564288,p.P7011S|uc021olt.1,p.P4952S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pme.1	nonsynonymous SNV	exon19	c.C3022T	p.P1008S	ETTLIQRDQEPIPQNIDRVKALIAE	ETTLIQRDQEPISQNIDRVKALIAE	10.0	7.0	-	-	3713_1:39920725-39920725 C>T_ETTLIQRDQEPISQNIDRVKALIAE
17:4381921-4381921 G>A	0.0	3713	MELANOMA	0.0009	-	-	-	SPNS3	uc002fxt.3,p.D390N|NM_182538,p.D390N|uc002fxu.3,p.D263N|ENST00000355530,p.D390N|ENST00000333476,p.D263N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002fxu.3	nonsynonymous SNV	exon8	c.G787A	p.D263N	ELLLSCNWAVVADILLSVVVPRCRG	ELLLSCNWAVVANILLSVVVPRCRG	1.0	7.0	unscreened	-	3713_17:4381921-4381921 G>A_ELLLSCNWAVVANILLSVVVPRCRG
2:152419263-152419263 C>T	0.0	3713	MELANOMA	-	-	-	-	NEB	NM_001271208,p.M6251I|NM_001164507,p.M6251I|uc002txu.3,p.M6251I|ENST00000604864,p.M6251I|ENST00000397345,p.M6251I|uc021vrd.1,p.M4550I|ENST00000172853,p.M4550I|ENST00000603639,p.M6251I|uc031rpp.1,p.M6251I|uc002txr.3,p.M1016I|uc021vrb.1,p.M4550I|uc021vrc.1,p.M6251I|ENST00000427231,p.M6251I|ENST00000413693,p.M981I|NM_001164508,p.M6251I|ENST00000409198,p.M4550I	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon120	c.G18753A	p.M6251I	EDTKANVHIPNDMMNHVLAKRCQYI	EDTKANVHIPNDIMNHVLAKRCQYI	2.0	7.0	unscreened	-	3713_2:152419263-152419263 C>T_EDTKANVHIPNDIMNHVLAKRCQYI
2:84908638-84908638 C>T	0.0	3713	MELANOMA	-	-	-	-	DNAH6	ENST00000602588,p.S322F|uc002sor.3,p.S322F|ENST00000398278,p.S2301F	retained_intron, protein_coding, processed_transcript	uc002sor.3	nonsynonymous SNV	exon7	c.C965T	p.S322F	AKSHYVFNLRDLSKCVQDKHFGIAI	AKSHYVFNLRDLFKCVQDKHFGIAI	1.0	10.0	unscreened	-	3713_2:84908638-84908638 C>T_AKSHYVFNLRDLFKCVQDKHFGIAI
8:17810690-17810690 C>T	1.0	3713	MELANOMA	-	-	-	1	PCM1	uc003wyi.4,p.S428L|uc003wyj.4,p.S428L|ENST00000524226,p.S428L|uc010lta.1,p.S467L|ENST00000518537,p.S467L|ENST00000519253,p.S428L|ENST00000325083,p.S428L|NM_006197,p.S428L|uc011kyh.2,p.S428L|ENST00000517730,p.S467L|uc003wyh.3,p.S467L|uc022asj.1,p.S467L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022asj.1	nonsynonymous SNV	exon8	c.C1400T	p.S467L	ELHTLRDQHLNNSSSSPQRSVDQRS	ELHTLRDQHLNNLSSSPQRSVDQRS	9.0	8.0	-	-	3713_8:17810690-17810690 C>T_ELHTLRDQHLNNLSSSPQRSVDQRS
1:7993276-7993276 G>A	0.0	3713	MELANOMA	-	-	-	-	TNFRSF9	uc001aot.3,p.R209C|ENST00000474475,p.R57C|NM_001561,p.R209C|ENST00000377507,p.R209C	protein_coding, nonsense_mediated_decay	uc001aot.3	nonsynonymous SNV	exon8	c.C625T	p.R209C	TALLFLLFFLTLRFSVVKRGRKKLL	TALLFLLFFLTLCFSVVKRGRKKLL	3.0	1.0	unscreened	-	3713_1:7993276-7993276 G>A_TALLFLLFFLTLCFSVVKRGRKKLL
5:35957389-35957389 C>T	0.0	3713	MELANOMA	-	-	-	-	UGT3A1	ENST00000507113,p.G292R|uc011cor.2,p.G292R|ENST00000503189,p.G326R|uc011coq.2,p.G326R|uc003jjv.2,p.G326R|ENST00000274278,p.G326R|NM_152404,p.G326R	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cor.2	nonsynonymous SNV	exon4	c.G874A	p.G292R	KKMHNAFAHLPQGVIWTCQSSHWPR	KKMHNAFAHLPQRVIWTCQSSHWPR	1.0	3.0	unscreened	-	3713_5:35957389-35957389 C>T_KKMHNAFAHLPQRVIWTCQSSHWPR
2:58425718-58425718 G>A	0.0	3713	MELANOMA	-	-	-	-	FANCL	ENST00000402135,p.P184L|NM_001114636,p.P184L|uc002rzx.4,p.P184L|ENST00000417361,p.P67L	retained_intron, protein_coding, processed_transcript	uc002rzx.4	nonsynonymous SNV	exon7	c.C551T	p.P184L	PFCASWTPQVNSPQSSLISIYSQFL	PFCASWTPQVNSLQSSLISIYSQFL	6.0	7.0	-	-	3713_2:58425718-58425718 G>A_PFCASWTPQVNSLQSSLISIYSQFL
5:140501656-140501656 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1696393;OCCURENCE=1(skin)	-	PCDHB4	uc003lip.1,p.R26C|NM_018938,p.R26C|ENST00000194152,p.R26C	protein_coding	uc003lip.1	nonsynonymous SNV	exon1	c.C76T	p.R26C	LAFILMVFLSQVRLEPIRYSVLEET	LAFILMVFLSQVCLEPIRYSVLEET	1.0	8.0	unscreened	-	3713_5:140501656-140501656 C>T_LAFILMVFLSQVCLEPIRYSVLEET
6:40399582-40399582 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1173224;OCCURENCE=2(oesophagus)	-	LRFN2	NM_020737,p.R424Q|ENST00000338305,p.R424Q|uc003oph.1,p.R424Q	protein_coding	uc003oph.1	nonsynonymous SNV	exon2	c.G1271A	p.R424Q	SGGGEPPKSPPERAVLVSEVTTTSA	SGGGEPPKSPPEQAVLVSEVTTTSA	1.0	10.0	unscreened	-	3713_6:40399582-40399582 C>T_SGGGEPPKSPPEQAVLVSEVTTTSA
1:46546359-46546359 G>A	1.0	3713	MELANOMA	-	-	-	-	PIK3R3	ENST00000420542,p.S57F|ENST00000540385,p.S103F|uc009vyc.3,p.S74F|ENST00000425892,p.S57F|NM_003629,p.S57F|NM_001114172,p.S57F|uc001cpb.4,p.S57F|uc010olw.2,p.S103F|ENST00000423209,p.S57F|ENST00000372006,p.S57F|ENST00000354242,p.S57F|uc009vyb.3,p.S57F|ENST00000262741,p.S57F|uc001cpc.4,p.S57F	protein_coding, processed_transcript	uc010olw.2	nonsynonymous SNV	exon2	c.C308T	p.S103F	MTSAVPNGMKDSSVSLQDAEWYWGD	MTSAVPNGMKDSFVSLQDAEWYWGD	4.0	2.0	unscreened	-	3713_1:46546359-46546359 G>A_MTSAVPNGMKDSFVSLQDAEWYWGD
6:46135762-46135762 C>T	0.0	3713	MELANOMA	-	-	-	-	ENPP5	uc003oya.1,p.V80I|ENST00000371383,p.V80I|NM_021572,p.V80I|NM_001290072,p.V80I|ENST00000230565,p.V80I|uc003oxz.1,p.V80I|uc010jzc.1,p.V80I	protein_coding, processed_transcript	uc010jzc.1	nonsynonymous SNV	exon2	c.G238A	p.V80I	FITKTYPNHYTLVTGLFAENHGIVA	FITKTYPNHYTLITGLFAENHGIVA	2.0	7.0	unscreened	-	3713_6:46135762-46135762 C>T_FITKTYPNHYTLITGLFAENHGIVA
5:127727770-127727770 G>A	0.0	3713	MELANOMA	-	-	-	-	FBN2	uc003kuu.3,p.S515L|ENST00000508053,p.S515L|uc003kuv.2,p.S482L|ENST00000508989,p.S482L|ENST00000262464,p.S515L|NM_001999,p.S515L	retained_intron, protein_coding, processed_transcript	uc003kuv.2	nonsynonymous SNV	exon10	c.C1445T	p.S482L	NLCLNGRCIPTVSSYRCECNMGYKQ	NLCLNGRCIPTVLSYRCECNMGYKQ	1.0	8.0	unscreened	-	3713_5:127727770-127727770 G>A_NLCLNGRCIPTVLSYRCECNMGYKQ
10:61835474-61835474 G>A	0.0	3713	MELANOMA	-	-	-	-	ANK3	ENST00000280772,p.P1722L|uc001jky.3,p.P1722L|NM_020987,p.P1722L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jky.3	nonsynonymous SNV	exon37	c.C5165T	p.P1722L	HAEVALVNGSISPLKYPSSSTLING	HAEVALVNGSISLLKYPSSSTLING	4.0	6.0	unscreened	-	3713_10:61835474-61835474 G>A_HAEVALVNGSISLLKYPSSSTLING
20:9520176-9520176 G>A	0.0	3713	MELANOMA	-	-	-	-	PAK7	NM_020341,p.P698L|ENST00000378429,p.P698L|uc010gby.1,p.P611L|NM_177990,p.P698L|uc002wnj.2,p.P698L|ENST00000353224,p.P698L|uc002wnl.2,p.P698L|uc002wnk.2,p.P698L|ENST00000378423,p.P698L	protein_coding	uc010gby.1	nonsynonymous SNV	exon8	c.C1832T	p.P611L	SQRATAQELLGHPFLKLAGPPSCIV	SQRATAQELLGHLFLKLAGPPSCIV	1.0	8.0	unscreened	-	3713_20:9520176-9520176 G>A_SQRATAQELLGHLFLKLAGPPSCIV
7:150164342-150164342 C>T	0.0	3713	MELANOMA	0.0023	-	-	-	GIMAP8	NM_175571,p.L186F|uc003whj.3,p.L186F|ENST00000307271,p.L186F	protein_coding	uc003whj.3	nonsynonymous SNV	exon2	c.C556T	p.L186F	SKDEQITQVLELLRKVESLVNTNGG	SKDEQITQVLELFRKVESLVNTNGG	6.0	2.0	unscreened	-	3713_7:150164342-150164342 C>T_SKDEQITQVLELFRKVESLVNTNGG
2:240981273-240981273 C>G	0.0	3713	MELANOMA	-	-	-	-	PRR21	ENST00000486799,p.C376S|ENST00000408934,p.C376S|NM_001080835,p.C376S|uc010zod.2,p.C376S	protein_coding	uc010zod.2	nonsynonymous SNV	exon1	c.G1127C	p.C376S	VLLLSARATFNTCLLVSNMYFLIIS	VLLLSARATFNTSLLVSNMYFLIIS	1.0	5.0	unscreened	-	3713_2:240981273-240981273 C>G_VLLLSARATFNTSLLVSNMYFLIIS
1:204942470-204942470 G>C	1.0	3713	MELANOMA	-	-	-	-	NFASC	ENST00000513543,p.S412T|ENST00000367171,p.S401T|ENST00000360049,p.S412T|NM_015090,p.S412T|ENST00000338586,p.S401T|NM_001160331,p.S412T|uc001hbj.3,p.S401T|uc010prb.2,p.S412T|ENST00000367169,p.S401T|NM_001160332,p.S412T|ENST00000401399,p.S401T|ENST00000367170,p.S401T|uc001hbh.3,p.S401T|ENST00000504476,p.S418T|NM_001005389,p.S401T|uc009xbg.1,p.S485T|uc010pra.2,p.S412T|NM_001005388,p.S401T|NM_001160333,p.S395T|ENST00000339876,p.S401T|uc001hbk.1,p.S222T|uc010pqz.2,p.S395T|ENST00000367172,p.S401T|ENST00000539706,p.S412T|ENST00000404907,p.S412T|ENST00000338515,p.S401T|ENST00000404076,p.S395T|uc001hbi.3,p.S412T|ENST00000403080,p.S401T|ENST00000430393,p.S388T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010prb.2	nonsynonymous SNV	exon10	c.G1235C	p.S412T	AGDTIIFRDTQISSRAVYQCNTSNE	AGDTIIFRDTQITSRAVYQCNTSNE	1.0	9.0	-	-	3713_1:204942470-204942470 G>C_AGDTIIFRDTQITSRAVYQCNTSNE
1:57140147-57140147 G>A	0.0	3713	MELANOMA	-	-	-	-	PRKAA2	uc001cyk.4,p.R63Q|ENST00000371244,p.R63Q|NM_006252,p.R63Q	protein_coding	uc001cyk.4	nonsynonymous SNV	exon2	c.G188A	p.R63Q	KIRSLDVVGKIKREIQNLKLFRHPH	KIRSLDVVGKIKQEIQNLKLFRHPH	1.0	3.0	unscreened	-	3713_1:57140147-57140147 G>A_KIRSLDVVGKIKQEIQNLKLFRHPH
9:27950375-27950375 C>T	0.0	3713	MELANOMA	-	-	-	-	LINGO2	NM_001258282,p.G99R|uc010mjf.2,p.G99R|ENST00000308675,p.G99R|NM_152570,p.G99R|uc022bfc.1,p.G99R|uc003zqv.2,p.G99R|ENST00000379992,p.G99R|uc003zqu.2,p.G99R	protein_coding, processed_transcript	uc022bfc.1	nonsynonymous SNV	exon1	c.G295A	p.G99R	DLSDNIIANVEPGAFNNLFNLRSLR	DLSDNIIANVEPRAFNNLFNLRSLR	1.0	8.0	unscreened	-	3713_9:27950375-27950375 C>T_DLSDNIIANVEPRAFNNLFNLRSLR
10:135352416-135352416 G>A	0.0	3713	MELANOMA	-	-	-	-	CYP2E1	NM_000773,p.G477E|uc009ybm.1,p.G131E|ENST00000463117,p.G477E|ENST00000252945,p.G477E|uc001lnk.1,p.G340E|uc009ybl.1,p.G278E|uc001lnj.1,p.G477E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009ybm.1	nonsynonymous SNV	exon6	c.G392A	p.G131E	DPKDIDLSPIHIGFGCIPPRYKLCV	DPKDIDLSPIHIEFGCIPPRYKLCV	2.0	5.0	unscreened	-	3713_10:135352416-135352416 G>A_DPKDIDLSPIHIEFGCIPPRYKLCV
10:47700929-47700929 C>T	0.0	3713	MELANOMA	-	-	-	-	ANTXRL	NM_001278688,p.S502F|ENST00000447511,p.S502F	retained_intron, protein_coding, nonsense_mediated_decay	NM_001278688	nonsynonymous SNV	exon17	c.C1505T	p.S502F	PRICFPHSQECLSLPQAPCSPRMCL	PRICFPHSQECLFLPQAPCSPRMCL	1.0	1.0	unscreened	-	3713_10:47700929-47700929 C>T_PRICFPHSQECLFLPQAPCSPRMCL
8:77775842-77775842 C>T	0.0	3713	MELANOMA	-	-	-	-	ZFHX4	NM_024721,p.P3298S|ENST00000455469,p.P3253S|ENST00000521891,p.P3298S|uc003yau.2,p.P3298S|ENST00000050961,p.P3249S|ENST00000518282,p.P3272S	retained_intron, protein_coding, nonsense_mediated_decay	uc003yau.2	nonsynonymous SNV	exon11	c.C9892T	p.P3298S	YFPPVCGMESLFPYGPTMPQTLAGL	YFPPVCGMESLFSYGPTMPQTLAGL	1.0	4.0	unscreened	-	3713_8:77775842-77775842 C>T_YFPPVCGMESLFSYGPTMPQTLAGL
1:12921332-12921332 T>C	0.0	3713	MELANOMA	-	rs1063796	-	-	PRAMEF2	NM_023014,p.C375R|uc001aum.1,p.C375R|ENST00000240189,p.C375R	protein_coding	uc001aum.1	nonsynonymous SNV	exon4	c.T1123C	p.C375R	YSQLSAILPGLSCCSQLTTFYFGSN	YSQLSAILPGLSRCSQLTTFYFGSN	1.0	1.0	unscreened	-	3713_1:12921332-12921332 T>C_YSQLSAILPGLSRCSQLTTFYFGSN
10:61829829-61829829 G>A	0.0	3713	MELANOMA	-	-	-	-	ANK3	ENST00000280772,p.H3604Y|NM_020987,p.H3604Y|uc001jky.3,p.H3604Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jky.3	nonsynonymous SNV	exon37	c.C10810T	p.H3604Y	STPTSEPNPFPFHEGKMFEMTRSGA	STPTSEPNPFPFYEGKMFEMTRSGA	4.0	6.0	unscreened	-	3713_10:61829829-61829829 G>A_STPTSEPNPFPFYEGKMFEMTRSGA
16:31338223-31338223 G>A	0.0	3713	MELANOMA	-	-	-	-	ITGAM	uc002ebs.1,p.G298E	retained_intron, protein_coding	uc002ebs.1	nonsynonymous SNV	exon8	c.G893A	p.G298E	NITFDVDSKASLGNKLLLKANVTRC	NITFDVDSKASLENKLLLKANVTRC	5.0	7.0	unscreened	-	3713_16:31338223-31338223 G>A_NITFDVDSKASLENKLLLKANVTRC
7:87183103-87183103 C>T	1.0	3713	MELANOMA	-	-	-	-	ABCB1	uc003uiz.2,p.E325K|uc011khc.2,p.E261K|ENST00000265724,p.E325K|ENST00000543898,p.E261K|NM_000927,p.E325K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011khc.2	nonsynonymous SNV	exon7	c.G781A	p.E261K	AFWYGTTLVLSGEYSIGQVLTVFFS	AFWYGTTLVLSGKYSIGQVLTVFFS	1.0	6.0	unscreened	-	3713_7:87183103-87183103 C>T_AFWYGTTLVLSGKYSIGQVLTVFFS
2:1652964-1652964 G>A	1.0	3713	MELANOMA	-	-	-	-	PXDN	NM_012293,p.P863L|uc002qxa.3,p.P863L|ENST00000252804,p.P863L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002qxa.3	nonsynonymous SNV	exon17	c.C2588T	p.P863L	CSNDPPCFSVMIPPNDSRARSGARC	CSNDPPCFSVMILPNDSRARSGARC	5.0	10.0	unscreened	-	3713_2:1652964-1652964 G>A_CSNDPPCFSVMILPNDSRARSGARC
19:15794313-15794313 G>A	0.0	3713	MELANOMA	-	-	-	-	CYP4F12	NM_023944,p.E220K|ENST00000324632,p.E220K|ENST00000550308,p.E220K|uc002nbl.3,p.E220K	retained_intron, protein_coding, nonsense_mediated_decay	uc002nbl.3	nonsynonymous SNV	exon7	c.G658A	p.E220K	FSFDSHCQERPSEYIATILELSALV	FSFDSHCQERPSKYIATILELSALV	1.0	10.0	unscreened	-	3713_19:15794313-15794313 G>A_FSFDSHCQERPSKYIATILELSALV
9:8528668-8528668 G>A	0.0	3713	MELANOMA	-	-	-	-	PTPRD	NM_002839,p.P155L|uc003zkt.1,p.P155L|ENST00000358503,p.P155L|ENST00000537002,p.P155L|uc003zkk.3,p.P155L|ENST00000463477,p.P155L|ENST00000360074,p.P155L|ENST00000356435,p.P155L|uc003zkq.3,p.P155L|ENST00000397611,p.P155L|NM_130393,p.P155L|ENST00000397606,p.P155L|ENST00000381196,p.P155L|NM_130391,p.P155L|uc003zks.3,p.P155L|ENST00000540109,p.P155L|ENST00000355233,p.P155L|NM_001171025,p.P155L|ENST00000397617,p.P155L|ENST00000486161,p.P155L|uc003zkp.3,p.P155L|uc022bdj.1,p.P155L|NM_130392,p.P155L|NM_001040712,p.P155L|uc003zkr.3,p.P155L	retained_intron, protein_coding, processed_transcript	uc022bdj.1	nonsynonymous SNV	exon4	c.C464T	p.P155L	ATMLCAASGNPDPEITWFKDFLPVD	ATMLCAASGNPDLEITWFKDFLPVD	1.0	1.0	unscreened	-	3713_9:8528668-8528668 G>A_ATMLCAASGNPDLEITWFKDFLPVD
11:4903155-4903155 C>T	0.0	3713	MELANOMA	-	-	-	-	OR51T1	NM_001004759,p.S36L|uc010qyp.2,p.S36L|ENST00000380378,p.S36L	protein_coding	uc010qyp.2	nonsynonymous SNV	exon1	c.C107T	p.S36L	LQPTMAIFNNTTSSSSNFLLTAFPG	LQPTMAIFNNTTLSSSNFLLTAFPG	1.0	2.0	unscreened	-	3713_11:4903155-4903155 C>T_LQPTMAIFNNTTLSSSNFLLTAFPG
15:42172458-42172458 G>A	0.0	3713	MELANOMA	-	-	-	-	SPTBN5	uc001zos.4,p.S904F|ENST00000320955,p.S904F|NM_016642,p.S904F	retained_intron, protein_coding	uc001zos.4	nonsynonymous SNV	exon14	c.C2711T	p.S904F	LEEAMALFGFCSSCGELQLWLEKQT	LEEAMALFGFCSFCGELQLWLEKQT	3.0	3.0	unscreened	-	3713_15:42172458-42172458 G>A_LEEAMALFGFCSFCGELQLWLEKQT
3:147128057-147128057 C>T	0.0	3713	MELANOMA	-	-	ID=COSM299633;OCCURENCE=1(large_intestine)	-	ZIC1	uc003ewe.3,p.S53L|ENST00000282928,p.S53L|NM_003412,p.S53L	protein_coding, processed_transcript	uc003ewe.3	nonsynonymous SNV	exon1	c.C158T	p.S53L	ADGMGAFKLNPSSHELASAGQTAFT	ADGMGAFKLNPSLHELASAGQTAFT	1.0	3.0	unscreened	-	3713_3:147128057-147128057 C>T_ADGMGAFKLNPSLHELASAGQTAFT
13:101257339-101257339 G>A	1.0	3713	MELANOMA	-	-	-	-	TMTC4	NM_032813,p.S731F|ENST00000376234,p.S712F|NM_001079669,p.S712F|NM_001286453,p.S601F|ENST00000328767,p.S601F|uc010tja.2,p.S601F|ENST00000342624,p.S731F|uc001vot.3,p.S731F|uc001vou.3,p.S712F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tja.2	nonsynonymous SNV	exon16	c.C1802T	p.S601F	GHLDLAKKHYEISLQLDPTASGTKE	GHLDLAKKHYEIFLQLDPTASGTKE	5.0	8.0	-	-	3713_13:101257339-101257339 G>A_GHLDLAKKHYEIFLQLDPTASGTKE
4:68780325-68780325 C>T	0.0	3713	MELANOMA	-	-	-	-	TMPRSS11A	ENST00000396188,p.G359E|uc003hds.1,p.G359E|uc003hdr.1,p.G362E|NM_001114387,p.G359E|ENST00000513536,p.G326E|NM_182606,p.G362E|ENST00000334830,p.G362E|ENST00000508048,p.G358E	protein_coding	uc003hds.1	nonsynonymous SNV	exon9	c.G1076A	p.G359E	IKPGMFCAGYMEGIYDACRGDSGGP	IKPGMFCAGYMEEIYDACRGDSGGP	1.0	5.0	unscreened	-	3713_4:68780325-68780325 C>T_IKPGMFCAGYMEEIYDACRGDSGGP
14:63246471-63246471 G>A	0.0	3713	MELANOMA	-	-	-	-	KCNH5	uc001xfz.1,p.T607I|ENST00000394968,p.T607I	protein_coding	uc001xfz.1	nonsynonymous SNV	exon10	c.C1820T	p.T607I	YTAFANSFSRNLTLTCNLRKRGWFS	YTAFANSFSRNLILTCNLRKRGWFS	1.0	10.0	unscreened	-	3713_14:63246471-63246471 G>A_YTAFANSFSRNLILTCNLRKRGWFS
1:113051909-113051909 G>A	1.0	3713	MELANOMA	0.0046	-	-	-	WNT2B	ENST00000369684,p.E9K|uc001ecb.3,p.E9K|NM_024494,p.E9K	protein_coding, processed_transcript	uc001ecb.3	nonsynonymous SNV	exon1	c.G25A	p.E9K	MLRPGGAEEAAQLPLRRASAP	MLRPGGAEKAAQLPLRRASAP	2.0	8.0	unscreened	-	3713_1:113051909-113051909 G>A_MLRPGGAEKAAQLPLRRASAP
7:12443287-12443287 T>C	0.0	3713	MELANOMA	-	-	-	-	VWDE	ENST00000452576,p.E19G|ENST00000326715,p.E19G|ENST00000521169,p.E19G|NM_001135924,p.E19G|ENST00000275358,p.E19G|uc003ssj.2,p.E19G	retained_intron, protein_coding, nonsense_mediated_decay	uc003ssj.2	nonsynonymous SNV	exon1	c.A56G	p.E19G	VLVIALMFLAWGEAQECSPGGHQFL	VLVIALMFLAWGGAQECSPGGHQFL	1.0	1.0	unscreened	-	3713_7:12443287-12443287 T>C_VLVIALMFLAWGGAQECSPGGHQFL
1:209797190-209797190 G>A	1.0	3713	MELANOMA	-	-	-	-	LAMB3	NM_000228,p.P711L|NM_001127641,p.P711L|ENST00000356082,p.P711L|ENST00000391911,p.P711L|NM_001017402,p.P711L|uc001hhg.3,p.P711L|ENST00000367030,p.P711L|uc001hhh.3,p.P711L|uc009xco.3,p.P711L	protein_coding	uc009xco.3	nonsynonymous SNV	exon15	c.C2132T	p.P711L	KREQFEKISSADPSGAFRMLSTAYE	KREQFEKISSADLSGAFRMLSTAYE	1.0	6.0	-	-	3713_1:209797190-209797190 G>A_KREQFEKISSADLSGAFRMLSTAYE
2:192922412-192922412 C>T	0.0	3713	MELANOMA	-	-	-	-	TMEFF2	NM_016192,p.D177N|uc031rqm.1,p.D177N|ENST00000392314,p.D177N|uc002utc.3,p.D177N|ENST00000272771,p.D177N	protein_coding, processed_transcript	uc031rqm.1	nonsynonymous SNV	exon5	c.G529A	p.D177N	CQFGAECDEDAEDVWCVCNIDCSQT	CQFGAECDEDAENVWCVCNIDCSQT	1.0	4.0	unscreened	-	3713_2:192922412-192922412 C>T_CQFGAECDEDAENVWCVCNIDCSQT
14:63246471-63246471 G>A	0.0	3713	MELANOMA	-	-	-	-	KCNH5	ENST00000322893,p.T665I|uc001xfx.3,p.T665I|NM_139318,p.T665I	protein_coding	uc001xfx.3	nonsynonymous SNV	exon10	c.C1994T	p.T665I	YTAFANSFSRNLTLTCNLRKRIIFR	YTAFANSFSRNLILTCNLRKRIIFR	1.0	10.0	unscreened	-	3713_14:63246471-63246471 G>A_YTAFANSFSRNLILTCNLRKRIIFR
15:32928613-32928613 G>A	1.0	3713	MELANOMA	-	-	-	-	ARHGAP11A	uc010ubx.1,p.E358K|ENST00000565905,p.E358K|NM_014783,p.E547K|uc010ubw.1,p.E358K|ENST00000543522,p.E358K|ENST00000361627,p.E547K|NM_001286480,p.E358K|NM_001286479,p.E358K|uc001zgy.1,p.E547K	retained_intron, protein_coding, processed_transcript	uc010ubx.1	nonsynonymous SNV	exon13	c.G1072A	p.E358K	NEASSMVENLEVENSLEPDIMVEKS	NEASSMVENLEVKNSLEPDIMVEKS	5.0	9.0	-	-	3713_15:32928613-32928613 G>A_NEASSMVENLEVKNSLEPDIMVEKS
1:179983074-179983074 C>T	1.0	3713	MELANOMA	-	-	-	-	CEP350	uc001gnu.3,p.R330W|NM_014810,p.R496W|uc009wxl.2,p.R495W|uc001gnt.3,p.R496W|ENST00000367607,p.R496W	protein_coding, processed_transcript, nonsense_mediated_decay	uc009wxl.2	nonsynonymous SNV	exon9	c.C1483T	p.R495W	LQRNSERSRSKSRSENNIKKLASSL	LQRNSERSRSKSWSENNIKKLASSL	6.0	8.0	-	-	3713_1:179983074-179983074 C>T_LQRNSERSRSKSWSENNIKKLASSL
11:99932099-99932099 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1721721,COSM1721720;OCCURENCE=2(NS)	-	CNTN5	uc001pfz.3,p.S379F|NM_175566,p.S305F|uc009ywv.2,p.S379F|uc001pga.3,p.S379F|uc021qpb.1,p.S379F|ENST00000524871,p.S379F|ENST00000528682,p.S379F|ENST00000418526,p.S305F|NM_014361,p.S379F|NM_001243270,p.S379F|ENST00000527185,p.S379F|ENST00000279463,p.S379F|uc021qpc.1,p.S305F|NM_001243271,p.S379F	retained_intron, protein_coding, processed_transcript	uc021qpc.1	nonsynonymous SNV	exon7	c.C914T	p.S305F	YECRAENSRGKNSFRGQLQVYTYPH	YECRAENSRGKNFFRGQLQVYTYPH	1.0	4.0	unscreened	-	3713_11:99932099-99932099 C>T_YECRAENSRGKNFFRGQLQVYTYPH
1:3440719-3440719 G>T	0.0	3713	MELANOMA	-	-	-	-	MEGF6	NM_001409,p.F191L|uc001akk.3,p.F86L|uc001akl.3,p.F191L|ENST00000485002,p.F198L|ENST00000356575,p.F191L|ENST00000294599,p.F86L	retained_intron, protein_coding, nonsense_mediated_decay	uc001akl.3	nonsynonymous SNV	exon5	c.C573A	p.F191L	TPGSYLCECKPGFRLHTDSRTCLAI	TPGSYLCECKPGLRLHTDSRTCLAI	1.0	6.0	unscreened	-	3713_1:3440719-3440719 G>T_TPGSYLCECKPGLRLHTDSRTCLAI
4:148968175-148968175 G>A	1.0	3713	MELANOMA	-	-	-	-	ARHGAP10	ENST00000414545,p.G316E|uc003ilg.3,p.G316E	retained_intron, protein_coding, processed_transcript	uc003ilg.3	nonsynonymous SNV	exon11	c.G947A	p.G316E	PGPDKNHLLADGGSFGDWASTIIRS	PGPDKNHLLADGESFGDWASTIIRS	2.0	6.0	unscreened	-	3713_4:148968175-148968175 G>A_PGPDKNHLLADGESFGDWASTIIRS
15:68642976-68642976 C>T	0.0	3713	MELANOMA	-	-	-	-	ITGA11	ENST00000315757,p.D347N|uc010bib.3,p.D347N|uc002ari.3,p.D347N|NM_001004439,p.D347N|ENST00000423218,p.D347N	retained_intron, protein_coding, processed_transcript	uc010bib.3	nonsynonymous SNV	exon9	c.G1039A	p.D347N	EAALKDIVDALGDRIFSLEGTNKNE	EAALKDIVDALGNRIFSLEGTNKNE	3.0	4.0	unscreened	-	3713_15:68642976-68642976 C>T_EAALKDIVDALGNRIFSLEGTNKNE
1:6194294-6194294 G>A	0.0	3713	MELANOMA	-	-	-	-	CHD5	ENST00000496404,p.S1013F|uc001amb.2,p.S1013F|NM_015557,p.S1013F|ENST00000262450,p.S1013F	protein_coding, nonsense_mediated_decay	uc001amb.2	nonsynonymous SNV	exon20	c.C3038T	p.S1013F	VAAVEAPVLPNGSYDGSSLVKSSGK	VAAVEAPVLPNGFYDGSSLVKSSGK	1.0	7.0	unscreened	-	3713_1:6194294-6194294 G>A_VAAVEAPVLPNGFYDGSSLVKSSGK
10:15688992-15688992 G>A	0.0	3713	MELANOMA	-	-	-	-	ITGA8	uc001ioc.1,p.P354S|uc010qcb.1,p.P339S|NM_003638,p.P354S|ENST00000378076,p.P354S|NM_001291494,p.P339S	protein_coding, processed_transcript	uc010qcb.1	nonsynonymous SNV	exon11	c.C1015T	p.P339S	APLFMEREFESNPREVGQIYLYLQV	APLFMEREFESNSREVGQIYLYLQV	2.0	5.0	unscreened	-	3713_10:15688992-15688992 G>A_APLFMEREFESNSREVGQIYLYLQV
1:203044805-203044805 C>T	0.0	3713	MELANOMA	-	-	-	-	PPFIA4	ENST00000272198,p.T659I|ENST00000414050,p.T872I|ENST00000367240,p.T1144I|NM_015053,p.T659I|uc001gyz.3,p.T659I|ENST00000295706,p.T650I|ENST00000599966,p.T650I|uc010pqf.2,p.T872I|uc001gza.3,p.T650I|uc009xaj.3,p.T1290I|uc001gzb.1,p.T345I|ENST00000447715,p.T1143I|uc001gzc.1,p.T201I	retained_intron, protein_coding, processed_transcript	uc010pqf.2	nonsynonymous SNV	exon23	c.C2615T	p.T872I	HGRGGMLSASAETLPAGFRVSTLGT	HGRGGMLSASAEILPAGFRVSTLGT	4.0	5.0	unscreened	-	3713_1:203044805-203044805 C>T_HGRGGMLSASAEILPAGFRVSTLGT
22:26224796-26224796 C>T	0.0	3713	MELANOMA	-	-	-	-	MYO18B	ENST00000536101,p.P947L|ENST00000407587,p.P947L|ENST00000335473,p.P947L|uc010guz.1,p.P828L|uc010guy.1,p.P828L|uc003aca.1,p.P828L|NM_032608,p.P947L|uc011akb.1,p.P460L|uc003abz.1,p.P947L|uc011aka.1,p.P101L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011akb.1	nonsynonymous SNV	exon11	c.C1379T	p.P460L	HLSMASIMVVDSPGFQNPRHQGKDR	HLSMASIMVVDSLGFQNPRHQGKDR	1.0	5.0	unscreened	-	3713_22:26224796-26224796 C>T_HLSMASIMVVDSLGFQNPRHQGKDR
21:43327184-43327184 G>A	0.0	3713	MELANOMA	-	-	-	-	C2CD2	uc002yzu.3,p.P244L|uc002yzv.3,p.P257L|uc002yzw.3,p.P412L|ENST00000380486,p.P412L|NM_015500,p.P412L|NM_199050,p.P257L|uc002yzt.3,p.P28L|ENST00000329623,p.P257L|uc002yzx.1,p.P257L	retained_intron, protein_coding, processed_transcript	uc002yzx.1	nonsynonymous SNV	exon9	c.C770T	p.P257L	PAAKIEKDRTVMPCGTVVTTVTAVK	PAAKIEKDRTVMLCGTVVTTVTAVK	4.0	4.0	unscreened	-	3713_21:43327184-43327184 G>A_PAAKIEKDRTVMLCGTVVTTVTAVK
16:71423652-71423652 G>A	1.0	3713	MELANOMA	-	-	-	-	CALB2	NM_001740,p.E234K|uc002faa.4,p.E234K|ENST00000302628,p.E234K	retained_intron, protein_coding	uc002faa.4	nonsynonymous SNV	exon11	c.G700A	p.E234K	ALLKDLYEKNKKEMNIQQLTNYRKS	ALLKDLYEKNKKKMNIQQLTNYRKS	1.0	3.0	-	-	3713_16:71423652-71423652 G>A_ALLKDLYEKNKKKMNIQQLTNYRKS
1:214837030-214837030 C>T	1.0	3713	MELANOMA	-	-	-	-	CENPF	uc001hkm.3,p.P3080S|ENST00000366955,p.P3080S|NM_016343,p.P3080S	protein_coding, processed_transcript	uc001hkm.3	nonsynonymous SNV	exon20	c.C9238T	p.P3080S	KSVPVNNLPERSPTDSPREGLRVKR	KSVPVNNLPERSSTDSPREGLRVKR	7.0	2.0	-	-	3713_1:214837030-214837030 C>T_KSVPVNNLPERSSTDSPREGLRVKR
9:107379818-107379818 G>A	0.0	3713	MELANOMA	-	-	-	-	OR13C9	ENST00000259362,p.S223F|NM_001001956,p.S223F|uc011lvr.2,p.S223F	protein_coding	uc011lvr.2	nonsynonymous SNV	exon1	c.C668T	p.S223F	LLLIVISYSLIISSILKIHSSEGRS	LLLIVISYSLIIFSILKIHSSEGRS	1.0	10.0	unscreened	-	3713_9:107379818-107379818 G>A_LLLIVISYSLIIFSILKIHSSEGRS
15:84652048-84652048 C>T	0.0	3713	MELANOMA	-	-	-	-	ADAMTSL3	NM_001301110,p.A1223V|NM_207517,p.A1223V|ENST00000567476,p.A1223V|uc002bjz.4,p.A1223V|uc010bmt.1,p.A1223V|ENST00000286744,p.A1223V	retained_intron, protein_coding, processed_transcript	uc010bmt.1	nonsynonymous SNV	exon21	c.C3668T	p.A1223V	INILCDLITPSEATYTWTKDGTLLQ	INILCDLITPSEVTYTWTKDGTLLQ	2.0	9.0	unscreened	-	3713_15:84652048-84652048 C>T_INILCDLITPSEVTYTWTKDGTLLQ
16:21063139-21063139 C>T	0.0	3713	MELANOMA	-	-	-	-	DNAH3	uc010vbe.2,p.D1364N|NM_017539,p.D1364N|ENST00000261383,p.D1364N|ENST00000415178,p.D1364N	retained_intron, protein_coding, processed_transcript	uc010vbe.2	nonsynonymous SNV	exon29	c.G4090A	p.D1364N	AKLSEDRVSDLNDFQWISQLRYYWV	AKLSEDRVSDLNNFQWISQLRYYWV	1.0	2.0	unscreened	-	3713_16:21063139-21063139 C>T_AKLSEDRVSDLNNFQWISQLRYYWV
1:118509303-118509303 C>T	0.0	3713	MELANOMA	-	-	-	-	SPAG17	uc001ehk.2,p.G2154E|ENST00000437255,p.G634E|NM_206996,p.G2154E|uc021osr.1,p.G664E|ENST00000336338,p.G2154E	protein_coding, processed_transcript	uc021osr.1	nonsynonymous SNV	exon17	c.G1991A	p.G664E	LFATAVGEDGAKGSAHISHNIEIMT	LFATAVGEDGAKESAHISHNIEIMT	1.0	10.0	unscreened	-	3713_1:118509303-118509303 C>T_LFATAVGEDGAKESAHISHNIEIMT
11:111369497-111369497 C>T	0.0	3713	MELANOMA	-	-	-	-	BTG4	ENST00000356018,p.R2K|ENST00000525791,p.R2K|uc001plk.3,p.R2K|NM_017589,p.R2K|uc001plj.3,p.R2K|ENST00000456861,p.R2K	protein_coding	uc001plk.3	nonsynonymous SNV	exon2	c.G5A	p.R2K	MRDEIATTVFFVTR	MKDEIATTVFFVTR	1.0	4.0	unscreened	-	3713_11:111369497-111369497 C>T_MKDEIATTVFFVTR
18:55024601-55024601 G>A	0.0	3713	MELANOMA	-	-	-	-	ST8SIA3	NM_015879,p.A254T|uc002lgn.3,p.A254T|ENST00000324000,p.A254T	protein_coding, lincRNA	uc002lgn.3	nonsynonymous SNV	exon3	c.G760A	p.A254T	ILWIPAFFFHTSATVTRTLVDFFVE	ILWIPAFFFHTSTTVTRTLVDFFVE	1.0	2.0	unscreened	-	3713_18:55024601-55024601 G>A_ILWIPAFFFHTSTTVTRTLVDFFVE
2:175436646-175436646 G>A	1.0	3713	MELANOMA	-	-	-	-	WIPF1	NM_003387,p.S296F|uc002uiz.3,p.S296F|ENST00000409415,p.S296F|ENST00000359761,p.S296F|ENST00000409891,p.S296F|ENST00000392546,p.S296F|uc002ujc.1,p.S296F|uc010fqt.1,p.S296F|NM_001077269,p.S296F|uc002ujb.2,p.S296F|ENST00000272746,p.S296F|uc002uja.3,p.S296F|uc010zep.1,p.S296F|ENST00000392547,p.S296F	retained_intron, protein_coding, processed_transcript	uc010zep.1	nonsynonymous SNV	exon5	c.C887T	p.S296F	PPPPQNNKPPVPSTPRPSASSQAPP	PPPPQNNKPPVPFTPRPSASSQAPP	9.0	8.0	unscreened	-	3713_2:175436646-175436646 G>A_PPPPQNNKPPVPFTPRPSASSQAPP
1:47515687-47515687 G>T	0.0	3713	MELANOMA	-	-	-	-	CYP4X1	uc001cqt.3,p.Q457H|uc001cqr.3,p.Q456H|ENST00000538609,p.Q456H|NM_178033,p.Q457H|uc001cqs.3,p.Q392H|ENST00000371901,p.Q457H	protein_coding, processed_transcript	uc001cqt.3	nonsynonymous SNV	exon12	c.G1371T	p.Q457H	LPFSAGSRNCIGQEFAMIELKVTIA	LPFSAGSRNCIGHEFAMIELKVTIA	1.0	10.0	unscreened	-	3713_1:47515687-47515687 G>T_LPFSAGSRNCIGHEFAMIELKVTIA
7:123105039-123105039 C>T	0.0	3713	MELANOMA	-	-	-	-	IQUB	ENST00000324698,p.E536K|uc003vkp.1,p.E536K|uc003vkn.3,p.E536K|NM_001282855,p.E536K|NM_178827,p.E536K|ENST00000466202,p.E536K|ENST00000434450,p.E536K|uc003vko.3,p.E536K|ENST00000484508,p.E536K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vkp.1	nonsynonymous SNV	exon10	c.G1606A	p.E536K	HTVKEHECKLTQEILELIDREVDLM	HTVKEHECKLTQKILELIDREVDLM	1.0	1.0	unscreened	-	3713_7:123105039-123105039 C>T_HTVKEHECKLTQKILELIDREVDLM
5:109963543-109963543 G>A	0.0	3713	MELANOMA	-	-	-	-	TMEM232	ENST00000512003,p.S55F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000512003	nonsynonymous SNV	exon3	c.C164T	p.S55F	LAIWSSYDFLYFSCMVI	LAIWSSYDFLYFFCMVI	1.0	7.0	unscreened	-	3713_5:109963543-109963543 G>A_LAIWSSYDFLYFFCMVI
22:26242110-26242110 C>T	0.0	3713	MELANOMA	-	-	-	-	MYO18B	uc010guy.1,p.P1020S|uc011aka.1,p.P292S|ENST00000407587,p.P1139S|uc010guz.1,p.P1019S|uc011akb.1,p.P651S|uc003abz.1,p.P1138S|NM_032608,p.P1138S|ENST00000536101,p.P1138S|uc003aca.1,p.P1019S|ENST00000335473,p.P1138S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011akb.1	nonsynonymous SNV	exon15	c.C1951T	p.P651S	LRSLFQARAKLPPVCRAVAGLEGTS	LRSLFQARAKLPSVCRAVAGLEGTS	1.0	3.0	unscreened	-	3713_22:26242110-26242110 C>T_LRSLFQARAKLPSVCRAVAGLEGTS
3:97806680-97806680 C>T	0.0	3713	MELANOMA	-	-	-	-	OR5AC2	uc011bgs.2,p.R222C|ENST00000358642,p.R222C|NM_054106,p.R222C	protein_coding	uc011bgs.2	nonsynonymous SNV	exon1	c.C664T	p.R222C	IPTLMTIIISYTRVLFDILKKKSEK	IPTLMTIIISYTCVLFDILKKKSEK	1.0	8.0	unscreened	-	3713_3:97806680-97806680 C>T_IPTLMTIIISYTCVLFDILKKKSEK
11:12263852-12263852 G>A	1.0	3713	MELANOMA	-	-	-	-	MICAL2	NM_001282664,p.R810K|uc001mjz.3,p.R810K|NM_001282663,p.R810K|ENST00000342902,p.R810K|ENST00000256194,p.R810K|NM_014632,p.R810K|uc001mka.3,p.R810K|uc010rci.2,p.R810K	retained_intron, protein_coding, processed_transcript	uc010rci.2	nonsynonymous SNV	exon18	c.G2429A	p.R810K	AGSECLSRPWRARAKSDLQLGGTEN	AGSECLSRPWRAKAKSDLQLGGTEN	7.0	10.0	-	-	3713_11:12263852-12263852 G>A_AGSECLSRPWRAKAKSDLQLGGTEN
1:32833981-32833981 G>A	1.0	3713	MELANOMA	-	-	-	-	BSDC1	uc001bvi.3,p.P460S|NM_001300958,p.P460S|uc001bvj.3,p.P339S|ENST00000341071,p.P460S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001bvj.3	nonsynonymous SNV	exon10	c.C1015T	p.P339S	EPNGPGCESSPQPAQLSPQEGPCSC	EPNGPGCESSPQSAQLSPQEGPCSC	9.0	7.0	-	-	3713_1:32833981-32833981 G>A_EPNGPGCESSPQSAQLSPQEGPCSC
5:101575018-101575018 C>T	0.0	3713	MELANOMA	-	-	-	-	SLCO4C1	NM_180991,p.G651R|uc003knm.3,p.G651R|ENST00000310954,p.G651R	protein_coding	uc003knm.3	nonsynonymous SNV	exon12	c.G1951A	p.G651R	DSTCILWDINDCGIKGACWIYDNIK	DSTCILWDINDCRIKGACWIYDNIK	1.0	7.0	unscreened	-	3713_5:101575018-101575018 C>T_DSTCILWDINDCRIKGACWIYDNIK
4:147830201-147830201 C>T	0.0	3713	MELANOMA	-	-	-	-	TTC29	NM_001300761,p.R152K|NM_031956,p.R126K|ENST00000398886,p.R152K|uc003ikx.4,p.R152K|ENST00000325106,p.R126K|uc010ipd.1,p.R126K|ENST00000508306,p.R126K|uc003ikw.4,p.R126K|ENST00000513335,p.R152K|ENST00000504425,p.R126K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ipd.1	nonsynonymous SNV	exon5	c.G377A	p.R126K	PDKLDYLYHYLTRAEDAERKESFED	PDKLDYLYHYLTKAEDAERKESFED	1.0	5.0	unscreened	-	3713_4:147830201-147830201 C>T_PDKLDYLYHYLTKAEDAERKESFED
14:70925507-70925507 G>A	0.0	3713	MELANOMA	-	-	-	-	ADAM21	ENST00000267499,p.D431N|uc001xmd.3,p.D431N|NM_003813,p.D431N|ENST00000603540,p.D431N|uc021rvq.1,p.D431N	protein_coding	uc021rvq.1	nonsynonymous SNV	exon1	c.G1291A	p.D431N	QCDCGSVQQCEQDACCLLNCTLRPG	QCDCGSVQQCEQNACCLLNCTLRPG	1.0	9.0	unscreened	-	3713_14:70925507-70925507 G>A_QCDCGSVQQCEQNACCLLNCTLRPG
6:41318504-41318504 C>T	0.0	3713	MELANOMA	-	-	-	-	NCR2	NM_004828,p.P245S|uc003oqh.2,p.P245S|ENST00000373089,p.P245S	protein_coding	uc003oqh.2	nonsynonymous SNV	exon5	c.C733T	p.P245S	KATCHLQQVTDLPWTSVSSPVEREI	KATCHLQQVTDLSWTSVSSPVEREI	1.0	2.0	unscreened	-	3713_6:41318504-41318504 C>T_KATCHLQQVTDLSWTSVSSPVEREI
13:28942770-28942770 G>A	0.0	3713	MELANOMA	-	-	-	-	FLT1	ENST00000541932,p.S716L|uc010aar.1,p.S716L|NM_001160030,p.S716L	protein_coding	uc010aar.1	nonsynonymous SNV	exon15	c.C2147T	p.S716L	EPELYTSTSPSSSSSSPLSSSSSSS	EPELYTSTSPSSLSSSPLSSSSSSS	5.0	8.0	unscreened	-	3713_13:28942770-28942770 G>A_EPELYTSTSPSSLSSSPLSSSSSSS
7:82595557-82595557 C>T	0.0	3713	MELANOMA	-	-	-	-	PCLO	ENST00000333891,p.E1183K|uc003uhx.2,p.E1183K|ENST00000423517,p.E1183K|uc003uhv.2,p.E1183K|NM_033026,p.E1183K|NM_014510,p.E1183K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon4	c.G3547A	p.E1183K	VILEKVKETLSMEKIPPMVTTDQKQ	VILEKVKETLSMKKIPPMVTTDQKQ	2.0	1.0	unscreened	-	3713_7:82595557-82595557 C>T_VILEKVKETLSMKKIPPMVTTDQKQ
1:173933987-173933987 G>A	1.0	3713	MELANOMA	-	-	-	-	RC3H1	NM_001300851,p.P536S|uc010pms.2,p.P536S|ENST00000367694,p.P536S|uc010pmt.2,p.P536S|NM_001300850,p.P536S|uc001gjv.3,p.P536S|uc001gju.4,p.P536S|NM_172071,p.P536S|ENST00000258349,p.P536S|ENST00000367696,p.P536S|NM_001300852,p.P536S	retained_intron, protein_coding	uc010pmt.2	nonsynonymous SNV	exon9	c.C1606T	p.P536S	KIDHLSSSAPGSPPDLLESVPKSIS	KIDHLSSSAPGSSPDLLESVPKSIS	5.0	3.0	unscreened	-	3713_1:173933987-173933987 G>A_KIDHLSSSAPGSSPDLLESVPKSIS
4:128811338-128811338 C>T	1.0	3713	MELANOMA	-	-	-	-	PLK4	NM_014264,p.P593S|ENST00000270861,p.P593S|NM_001190801,p.P552S|uc011cgs.2,p.P561S|NM_001190799,p.P561S|ENST00000514379,p.P552S|uc003ifo.3,p.P593S|uc011cgt.2,p.P552S|ENST00000513090,p.P561S|ENST00000507249,p.P559S|ENST00000515069,p.P515S	retained_intron, protein_coding, processed_transcript	uc011cgt.2	nonsynonymous SNV	exon7	c.C1654T	p.P552S	GYQNRTLRSITSPLVAHRLKPIRQK	GYQNRTLRSITSSLVAHRLKPIRQK	3.0	6.0	-	-	3713_4:128811338-128811338 C>T_GYQNRTLRSITSSLVAHRLKPIRQK
17:32612889-32612889 G>A	0.0	3713	MELANOMA	-	-	-	-	CCL11	uc002hia.1,p.G21E|ENST00000305869,p.G21E|NM_002986,p.G21E	protein_coding	uc002hia.1	nonsynonymous SNV	exon1	c.G62A	p.G21E	WLLLIAAAFSPQGLAGPASVPTTCC	WLLLIAAAFSPQELAGPASVPTTCC	1.0	4.0	unscreened	-	3713_17:32612889-32612889 G>A_WLLLIAAAFSPQELAGPASVPTTCC
16:55705790-55705790 G>A	0.0	3713	MELANOMA	-	-	-	-	SLC6A2	ENST00000567238,p.G11E|NM_001172502,p.G11E|uc002eii.3,p.G11E	protein_coding	uc002eii.3	nonsynonymous SNV	exon1	c.G32A	p.G11E	MGVQWWSHTQGEVAVGLGLGDSY	MGVQWWSHTQEEVAVGLGLGDSY	1.0	1.0	unscreened	-	3713_16:55705790-55705790 G>A_MGVQWWSHTQEEVAVGLGLGDSY
5:138714336-138714336 C>T	0.0	3713	MELANOMA	-	-	-	-	SLC23A1	ENST00000353963,p.G375R|NM_005847,p.G371R|ENST00000348729,p.G371R|uc003leg.3,p.G375R|NM_152685,p.G375R|uc003leh.3,p.G371R	retained_intron, protein_coding, processed_transcript	uc003leh.3	nonsynonymous SNV	exon10	c.G1111A	p.G371R	GIFTEGICCIIAGLLGTGNGSTSSS	GIFTEGICCIIARLLGTGNGSTSSS	1.0	2.0	unscreened	-	3713_5:138714336-138714336 C>T_GIFTEGICCIIARLLGTGNGSTSSS
14:92189435-92189435 C>T	0.0	3713	MELANOMA	-	-	-	-	CATSPERB	NM_024764,p.M89I|ENST00000256343,p.M89I|uc001xzs.1,p.M89I	retained_intron, protein_coding, nonsense_mediated_decay	uc001xzs.1	nonsynonymous SNV	exon4	c.G267A	p.M89I	FTSGGLAPSLGIMNSTYNGIFHFNL	FTSGGLAPSLGIINSTYNGIFHFNL	1.0	2.0	unscreened	-	3713_14:92189435-92189435 C>T_FTSGGLAPSLGIINSTYNGIFHFNL
5:180057279-180057279 G>A	0.0	3713	MELANOMA	-	-	-	1	FLT4	uc011dha.1,p.P137L	retained_intron, protein_coding, processed_transcript	uc011dha.1	nonsynonymous SNV	exon4	c.C410T	p.P137L	AASSYVFVRGRTPCGCPVWCPSPAS	AASSYVFVRGRTLCGCPVWCPSPAS	4.0	5.0	unscreened	-	3713_5:180057279-180057279 G>A_AASSYVFVRGRTLCGCPVWCPSPAS
11:613022-613022 C>T	1.0	3713	MELANOMA	-	-	-	-	IRF7	uc010qwf.2,p.E444K|ENST00000397574,p.E445K|uc001lqf.3,p.E152K|NM_004029,p.E416K|NM_004031,p.E458K|NM_001572,p.E445K|ENST00000397570,p.E416K|uc010qwh.2,p.E152K|ENST00000525445,p.E339K|uc001lqh.3,p.E445K|uc009ycb.3,p.E339K|uc031pxz.1,p.E429K|uc001lqi.3,p.E416K|uc010qwg.2,p.E152K|ENST00000397566,p.E458K|ENST00000348655,p.E416K|uc001lqg.3,p.E458K|ENST00000397562,p.E152K|ENST00000330243,p.E458K	retained_intron, protein_coding, nonsense_mediated_decay	uc031pxz.1	nonsynonymous SNV	exon7	c.G1285A	p.E429K	GFGQDLSAGRPKEKSLVLVKLEPWL	GFGQDLSAGRPKKKSLVLVKLEPWL	8.0	2.0	-	-	3713_11:613022-613022 C>T_GFGQDLSAGRPKKKSLVLVKLEPWL
1:6314839-6314839 C>T	1.0	3713	MELANOMA	-	-	-	-	GPR153	ENST00000377893,p.E43K|NM_207370,p.E43K|uc001amp.2,p.E43K	protein_coding	uc001amp.2	nonsynonymous SNV	exon2	c.G127A	p.E43K	SVGAKQKKWKPLEFLLCTLAATHML	SVGAKQKKWKPLKFLLCTLAATHML	7.0	1.0	unscreened	-	3713_1:6314839-6314839 C>T_SVGAKQKKWKPLKFLLCTLAATHML
4:152080480-152080480 G>A	0.0	3713	MELANOMA	-	-	-	-	SH3D19	NM_001128924,p.P240L|ENST00000424281,p.P240L|uc003imc.2,p.P240L|ENST00000427414,p.P240L	retained_intron, protein_coding, processed_transcript	uc003imc.2	nonsynonymous SNV	exon2	c.C719T	p.P240L	EMVLGLHEDPQSPPPLPAEKPIGNT	EMVLGLHEDPQSLPPLPAEKPIGNT	5.0	2.0	unscreened	-	3713_4:152080480-152080480 G>A_EMVLGLHEDPQSLPPLPAEKPIGNT
7:123594274-123594274 G>A	0.0	3713	MELANOMA	-	-	-	-	SPAM1	uc003vlf.4,p.G217D|ENST00000402183,p.G217D|uc003vle.3,p.G217D|ENST00000340011,p.G217D|NM_153189,p.G217D|NM_001174046,p.G217D|NM_001174044,p.G217D|uc022aks.1,p.G217D|ENST00000460182,p.G217D|ENST00000439500,p.G217D|NM_003117,p.G217D|NM_001174045,p.G217D|uc010lku.3,p.G217D|ENST00000223028,p.G217D|uc003vld.3,p.G217D	protein_coding	uc022aks.1	nonsynonymous SNV	exon3	c.G650A	p.G217D	KLGKLLRPNHLWGYYLFPDCYNHHY	KLGKLLRPNHLWDYYLFPDCYNHHY	1.0	8.0	unscreened	-	3713_7:123594274-123594274 G>A_KLGKLLRPNHLWDYYLFPDCYNHHY
9:84605828-84605828 C>T	0.0	3713	MELANOMA	-	-	-	-	SPATA31D1	ENST00000344803,p.S148F|uc004amn.3,p.S148F|NM_001001670,p.S148F	protein_coding	uc004amn.3	nonsynonymous SNV	exon4	c.C443T	p.S148F	ATADIQQLLSWESLKDAAPSVSPLA	ATADIQQLLSWEFLKDAAPSVSPLA	1.0	8.0	unscreened	-	3713_9:84605828-84605828 C>T_ATADIQQLLSWEFLKDAAPSVSPLA
6:142399925-142399925 C>T	0.0	3713	MELANOMA	0.0005	-	-	-	NMBR	uc003qiu.3,p.V180M|NM_002511,p.V180M|ENST00000258042,p.V180M	protein_coding, processed_transcript	uc003qiu.3	nonsynonymous SNV	exon2	c.G538A	p.V180M	WVVSVLLAVPEAVFSEVARISSLDN	WVVSVLLAVPEAMFSEVARISSLDN	1.0	7.0	unscreened	-	3713_6:142399925-142399925 C>T_WVVSVLLAVPEAMFSEVARISSLDN
19:17306069-17306069 C>T	1.0	3713	MELANOMA	-	-	-	-	MYO9B	ENST00000595641,p.P1278L|NM_004145,p.P1278L|uc002nfi.3,p.P1278L|uc010eak.3,p.P1278L|uc002nfj.1,p.P1278L|NM_001130065,p.P1278L|ENST00000594824,p.P1278L|ENST00000595618,p.P1278L|ENST00000397274,p.P1278L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010eak.3	nonsynonymous SNV	exon22	c.C3833T	p.P1278L	GSAPETPEDKSKPCGSPRVQEKPDS	GSAPETPEDKSKLCGSPRVQEKPDS	10.0	9.0	-	-	3713_19:17306069-17306069 C>T_GSAPETPEDKSKLCGSPRVQEKPDS
X:140785678-140785678 G>A	0.0	3713	MELANOMA	-	-	-	-	SPANXC,SPANXD	uc004fbq.3,p.L80F|NM_022661,p.L80F	protein_coding	uc004fbq.3	nonsynonymous SNV	exon2	c.C238T	p.L80F	VNDHARENRINPLQMEEEEFMEIMV	VNDHARENRINPFQMEEEEFMEIMV	1.0	7.0	unscreened	-	3713_X:140785678-140785678 G>A_VNDHARENRINPFQMEEEEFMEIMV
7:90012346-90012346 C>T	1.0	3713	MELANOMA	-	-	-	-	GTPBP10	ENST00000417207,p.A212V|uc003uko.2,p.A95V|ENST00000222511,p.A285V|uc003ukn.2,p.A206V|uc003ukm.2,p.A285V|ENST00000257659,p.A206V|NM_033107,p.A285V|NM_001042717,p.A206V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uko.2	nonsynonymous SNV	exon8	c.C284T	p.A95V	ALLAVNKMDLPDAQDKFHELMSQLQ	ALLAVNKMDLPDVQDKFHELMSQLQ	6.0	8.0	unscreened	-	3713_7:90012346-90012346 C>T_ALLAVNKMDLPDVQDKFHELMSQLQ
5:52221307-52221307 C>T	1.0	3713	MELANOMA	-	-	-	-	ITGA1	uc003jow.3,p.S399L|NM_181501,p.S868L|uc003jou.3,p.S868L|ENST00000282588,p.S868L	retained_intron, protein_coding, processed_transcript	uc003jow.3	nonsynonymous SNV	exon8	c.C1196T	p.S399L	RTIVHYSPNLVFSGIEAIQKDSCES	RTIVHYSPNLVFLGIEAIQKDSCES	4.0	6.0	-	-	3713_5:52221307-52221307 C>T_RTIVHYSPNLVFLGIEAIQKDSCES
12:7805417-7805417 G>A	0.0	3713	MELANOMA	-	-	-	-	APOBEC1	ENST00000229304,p.P20L|NM_001644,p.P20L|uc001qtb.3,p.P20L	protein_coding, nonsense_mediated_decay	uc001qtb.3	nonsynonymous SNV	exon3	c.C59T	p.P20L	STGDPTLRRRIEPWEFDVFYDPREL	STGDPTLRRRIELWEFDVFYDPREL	1.0	5.0	unscreened	-	3713_12:7805417-7805417 G>A_STGDPTLRRRIELWEFDVFYDPREL
X:47774379-47774379 C>T	1.0	3713	MELANOMA	-	-	-	-	ZNF81	uc022bvq.1,p.H112Y|ENST00000376954,p.H112Y|ENST00000338637,p.H112Y|NM_007137,p.H112Y|uc010nhy.2,p.H112Y	protein_coding, processed_transcript	uc022bvq.1	nonsynonymous SNV	exon5	c.C334T	p.H112Y	PSQRRISGKSTFHSEMEGEDTRDDS	PSQRRISGKSTFYSEMEGEDTRDDS	4.0	7.0	unscreened	-	3713_X:47774379-47774379 C>T_PSQRRISGKSTFYSEMEGEDTRDDS
5:102491662-102491662 C>T	1.0	3713	MELANOMA	-	-	-	-	PPIP5K2	NM_015216,p.P485S|NM_001276277,p.P485S|uc010jbo.2,p.P407S|ENST00000414217,p.P485S|ENST00000321521,p.P485S|uc003koe.4,p.P485S|uc003kod.5,p.P485S|ENST00000507921,p.P407S|ENST00000358359,p.P485S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jbo.2	nonsynonymous SNV	exon12	c.C1219T	p.P407S	SGINRKVQLTYLPHGCPKTSSEEED	SGINRKVQLTYLSHGCPKTSSEEED	8.0	5.0	-	-	3713_5:102491662-102491662 C>T_SGINRKVQLTYLSHGCPKTSSEEED
3:13661292-13661292 C>T	0.0	3713	MELANOMA	-	-	-	2	FBLN2	uc011ava.2,p.P706S|ENST00000295760,p.P706S|uc011auz.2,p.P732S|NM_001165035,p.P706S|NM_001004019,p.P706S|ENST00000535798,p.P732S|uc011avb.2,p.P706S|ENST00000492059,p.P706S|NM_001998,p.P706S|ENST00000404922,p.P706S|uc011avc.2,p.P706S	retained_intron, protein_coding	uc011avc.2	nonsynonymous SNV	exon8	c.C2116T	p.P706S	STVGGSAICSCFPGYAIMADGVSCE	STVGGSAICSCFSGYAIMADGVSCE	3.0	8.0	unscreened	-	3713_3:13661292-13661292 C>T_STVGGSAICSCFSGYAIMADGVSCE
9:3248172-3248172 G>A	0.0	3713	MELANOMA	-	-	-	-	RFX3	ENST00000302303,p.R610W|NM_002919,p.R610W|uc003zhr.3,p.R610W|uc003zhs.1,p.R610W|NM_001282116,p.R610W|ENST00000449234,p.R75W|ENST00000358730,p.R610W|uc010mhd.3,p.R610W|NM_134428,p.R610W|ENST00000382004,p.R610W	protein_coding	uc010mhd.3	nonsynonymous SNV	exon15	c.C1828T	p.R610W	LLKWSFYSSMVIRDLTLRSAASFGS	LLKWSFYSSMVIWDLTLRSAASFGS	4.0	2.0	unscreened	-	3713_9:3248172-3248172 G>A_LLKWSFYSSMVIWDLTLRSAASFGS
2:186659803-186659803 C>T	0.0	3713	MELANOMA	-	-	-	-	FSIP2	NM_173651,p.P2736L|uc002upl.3,p.P2736L|ENST00000343098,p.P2736L|ENST00000424728,p.P2647L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon16	c.C8207T	p.P2736L	MVLNKITNFVSLPLKVSPKDNPKPC	MVLNKITNFVSLLLKVSPKDNPKPC	1.0	5.0	unscreened	-	3713_2:186659803-186659803 C>T_MVLNKITNFVSLLLKVSPKDNPKPC
11:66134021-66134021 G>A	1.0	3713	MELANOMA	-	-	-	-	SLC29A2	uc001oht.3,p.P250S|uc009yrf.3,p.P130S|ENST00000357440,p.P250S|ENST00000546034,p.P250S|ENST00000540386,p.P250S|NM_001300868,p.P250S|uc001ohu.3,p.P250S|ENST00000544554,p.P250S|NM_001532,p.P250S	protein_coding, nonsense_mediated_decay	uc009yrf.3	nonsynonymous SNV	exon8	c.C388T	p.P130S	KAELLQSDENGIPSSPQKVALTLDL	KAELLQSDENGISSSPQKVALTLDL	2.0	5.0	unscreened	-	3713_11:66134021-66134021 G>A_KAELLQSDENGISSSPQKVALTLDL
10:94366084-94366084 G>A	1.0	3713	MELANOMA	-	-	-	-	KIF11	ENST00000260731,p.R47Q|uc001kic.3,p.R47Q|NM_004523,p.R47Q	protein_coding	uc001kic.3	nonsynonymous SNV	exon2	c.G140A	p.R47Q	ASAHSIVECDPVRKEVSVRTGGLAD	ASAHSIVECDPVQKEVSVRTGGLAD	5.0	5.0	-	-	3713_10:94366084-94366084 G>A_ASAHSIVECDPVQKEVSVRTGGLAD
5:19483619-19483619 C>T	1.0	3713	MELANOMA	-	-	ID=COSM1132177,COSM1132178;OCCURENCE=2(large_intestine),1(prostate)	-	CDH18	ENST00000274170,p.R558Q|NM_001291956,p.R558Q|uc003jgd.3,p.R558Q|ENST00000507958,p.R558Q|ENST00000382275,p.R558Q|uc003jgc.3,p.R558Q|NM_004934,p.R558Q	protein_coding, processed_transcript	uc003jgd.3	nonsynonymous SNV	exon12	c.G1673A	p.R558Q	TASILTRRRRFSRTVQDVYYLPIMI	TASILTRRRRFSQTVQDVYYLPIMI	1.0	3.0	unscreened	-	3713_5:19483619-19483619 C>T_TASILTRRRRFSQTVQDVYYLPIMI
19:58598365-58598365 G>A	1.0	3713	MELANOMA	-	-	-	-	ZSCAN18	uc002qrj.3,p.S218F|NM_023926,p.S218F|ENST00000600404,p.S274F|NM_001145542,p.S274F|ENST00000433686,p.S116F|uc010yhs.1,p.S83F|NM_001145543,p.S218F|uc002qri.2,p.S218F|ENST00000601144,p.S218F|ENST00000421612,p.S83F|ENST00000240727,p.S218F|uc002qrh.2,p.S218F|uc010yht.1,p.S274F|NM_001145544,p.S83F	retained_intron, protein_coding, processed_transcript	uc010yht.1	nonsynonymous SNV	exon5	c.C821T	p.S274F	EDGPANTEQKLKSFPEDPQHLGEWG	EDGPANTEQKLKFFPEDPQHLGEWG	8.0	10.0	-	-	3713_19:58598365-58598365 G>A_EDGPANTEQKLKFFPEDPQHLGEWG
18:44555022-44555022 G>A	0.0	3713	MELANOMA	-	-	-	-	TCEB3C,TCEB3CL	NM_145653,p.L398F|ENST00000330682,p.L398F|uc010xdb.2,p.L398F|NM_001100817,p.L398F	protein_coding	uc010xdb.2	nonsynonymous SNV	exon1	c.C1192T	p.L398F	ARETDELWRIHCLQDFKEEKPQEHE	ARETDELWRIHCFQDFKEEKPQEHE	1.0	1.0	unscreened	-	3713_18:44555022-44555022 G>A_ARETDELWRIHCFQDFKEEKPQEHE
6:132891606-132891606 G>A	0.0	3713	MELANOMA	-	-	-	-	TAAR6	ENST00000275198,p.G49E|uc011eck.2,p.G49E|NM_175067,p.G49E	protein_coding	uc011eck.2	nonsynonymous SNV	exon1	c.G146A	p.G49E	IVFGFGAVLAVFGNLLVMISILHFK	IVFGFGAVLAVFENLLVMISILHFK	1.0	9.0	unscreened	-	3713_6:132891606-132891606 G>A_IVFGFGAVLAVFENLLVMISILHFK
12:132249193-132249193 A>C	1.0	3713	MELANOMA	-	-	-	-	SFSWAP	uc001uja.2,p.K638T|uc001ujb.1,p.K431T|NM_001261411,p.K638T|ENST00000535236,p.K431T|NM_004592,p.K638T|uc010tbn.2,p.K638T|ENST00000541286,p.K638T|ENST00000261674,p.K638T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tbn.2	nonsynonymous SNV	exon12	c.A1913C	p.K638T	AVAPPCVVVEEKKPQLTQEELEAKQ	AVAPPCVVVEEKTPQLTQEELEAKQ	7.0	9.0	-	-	3713_12:132249193-132249193 A>C_AVAPPCVVVEEKTPQLTQEELEAKQ
1:177133809-177133809 C>A	0.0	3713	MELANOMA	-	-	-	-	ASTN1	ENST00000361833,p.A2S|uc001glc.3,p.A2S|NM_001286164,p.A2S|ENST00000424564,p.A2S|uc009wwx.1,p.A2S|NM_207108,p.A2S|NM_004319,p.A2S|uc001gld.1,p.A2S|ENST00000367654,p.A2S|ENST00000367657,p.A2S|uc001glb.1,p.A2S	protein_coding, processed_transcript	uc009wwx.1	nonsynonymous SNV	exon1	c.G4T	p.A2S	MALAGLCALLACCW	MSLAGLCALLACCW	1.0	8.0	unscreened	-	3713_1:177133809-177133809 C>A_MSLAGLCALLACCW
18:28980941-28980941 A>T	0.0	3713	MELANOMA	-	-	-	-	DSG4	NM_001134453,p.I459F|ENST00000308128,p.I459F|uc002kwr.2,p.I459F|ENST00000359747,p.I459F|uc002kwq.2,p.I459F|NM_177986,p.I459F	protein_coding	uc002kwr.2	nonsynonymous SNV	exon10	c.A1375T	p.I459F	QFSREFDKKSKYIINGIYTAEILAI	QFSREFDKKSKYFINGIYTAEILAI	1.0	10.0	unscreened	-	3713_18:28980941-28980941 A>T_QFSREFDKKSKYFINGIYTAEILAI
14:65053972-65053972 G>A	0.0	3713	MELANOMA	-	-	-	-	PPP1R36	NM_172365,p.E258K|uc001xhl.1,p.E258K|ENST00000298705,p.E258K	retained_intron, protein_coding, nonsense_mediated_decay	uc001xhl.1	nonsynonymous SNV	exon10	c.G772A	p.E258K	VAWIVFRRQHLTEIEEEVGRLFRTN	VAWIVFRRQHLTKIEEEVGRLFRTN	1.0	10.0	unscreened	-	3713_14:65053972-65053972 G>A_VAWIVFRRQHLTKIEEEVGRLFRTN
7:95125267-95125267 C>T	0.0	3713	MELANOMA	-	-	-	-	ASB4	ENST00000325885,p.R129C|NM_145872,p.R129C|ENST00000428113,p.R129C|uc011kij.2,p.R129C|NM_016116,p.R129C|uc003unx.3,p.R129C	protein_coding, processed_transcript	uc011kij.2	nonsynonymous SNV	exon2	c.C385T	p.R129C	MANVDCVKILCDRGAKLNCYSLSGH	MANVDCVKILCDCGAKLNCYSLSGH	1.0	6.0	unscreened	-	3713_7:95125267-95125267 C>T_MANVDCVKILCDCGAKLNCYSLSGH
3:97852205-97852205 C>T	0.0	3713	MELANOMA	-	-	-	-	OR5H1	NM_001005338,p.L222F|uc011bgt.2,p.L222F|ENST00000354565,p.L222F	protein_coding	uc011bgt.2	nonsynonymous SNV	exon1	c.C664T	p.L222F	SIVTILVSYTFVLFAILKKKSDKGV	SIVTILVSYTFVFFAILKKKSDKGV	1.0	9.0	unscreened	-	3713_3:97852205-97852205 C>T_SIVTILVSYTFVFFAILKKKSDKGV
11:5530003-5530003 C>T	0.0	3713	MELANOMA	-	-	-	-	UBQLN3	ENST00000311659,p.M262I|NM_017481,p.M262I|uc001may.1,p.M262I|uc021qcw.1,p.M262I	protein_coding	uc021qcw.1	nonsynonymous SNV	exon1	c.G786A	p.M262I	GYNVLCTMYTDIMDPMLNAVQEQFG	GYNVLCTMYTDIIDPMLNAVQEQFG	1.0	8.0	unscreened	-	3713_11:5530003-5530003 C>T_GYNVLCTMYTDIIDPMLNAVQEQFG
9:14784497-14784497 C>T	0.0	3713	MELANOMA	-	-	-	-	FREM1	ENST00000380880,p.R1438Q|ENST00000380881,p.R1439Q|uc003zlm.3,p.R1438Q|NM_144966,p.R1438Q|ENST00000422223,p.R1438Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zlm.3	nonsynonymous SNV	exon25	c.G4313A	p.R1438Q	PEELLYVITSPPRYGQIEYVHYPGV	PEELLYVITSPPQYGQIEYVHYPGV	3.0	7.0	unscreened	-	3713_9:14784497-14784497 C>T_PEELLYVITSPPQYGQIEYVHYPGV
5:13839514-13839514 C>T	0.0	3713	MELANOMA	-	-	-	-	DNAH5	uc003jfd.2,p.E1945K|NM_001369,p.E1945K|ENST00000265104,p.E1945K	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon35	c.G5833A	p.E1945K	IHITDVAFIYQNEFLGCTDRLVITP	IHITDVAFIYQNKFLGCTDRLVITP	1.0	10.0	unscreened	-	3713_5:13839514-13839514 C>T_IHITDVAFIYQNKFLGCTDRLVITP
5:156381738-156381738 C>T	0.0	3713	MELANOMA	-	-	-	-	TIMD4	NM_138379,p.E30K|ENST00000274532,p.E30K|NM_001146726,p.E30K|uc003lwh.2,p.E30K|ENST00000407087,p.E30K|uc010jii.2,p.E30K	protein_coding	uc010jii.2	nonsynonymous SNV	exon2	c.G88A	p.E30K	YLTPVTSETVVTEVLGHRVTLPCLY	YLTPVTSETVVTKVLGHRVTLPCLY	1.0	3.0	unscreened	-	3713_5:156381738-156381738 C>T_YLTPVTSETVVTKVLGHRVTLPCLY
4:20550128-20550128 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1694189;OCCURENCE=1(skin)	-	SLIT2	ENST00000273739,p.R792K|uc003gps.1,p.R780K|ENST00000504154,p.R788K|uc003gpr.1,p.R788K|NM_001289136,p.R780K|NM_001289135,p.R784K|NM_004787,p.R788K|ENST00000503837,p.R784K|ENST00000503823,p.R780K	retained_intron, protein_coding, processed_transcript	uc003gps.1	nonsynonymous SNV	exon22	c.G2339A	p.R780K	YKHLTLIDLSNNRISTLSNQSFSNM	YKHLTLIDLSNNKISTLSNQSFSNM	3.0	4.0	unscreened	-	3713_4:20550128-20550128 G>A_YKHLTLIDLSNNKISTLSNQSFSNM
5:161524759-161524759 C>T	0.0	3713	MELANOMA	-	-	-	-	GABRG2	ENST00000393933,p.P53L|ENST00000356592,p.P148L|NM_198904,p.P148L|ENST00000414552,p.P148L|ENST00000361925,p.P148L|ENST00000522053,p.P53L|uc010jjc.3,p.P148L|NM_198903,p.P148L|uc003lyz.4,p.P148L|NM_000816,p.P148L|uc003lyy.4,p.P148L|uc011dej.2,p.P53L	protein_coding, nonsense_mediated_decay	uc011dej.2	nonsynonymous SNV	exon5	c.C158T	p.P53L	RLNSNMVGKIWIPDTFFRNSKKADA	RLNSNMVGKIWILDTFFRNSKKADA	1.0	8.0	unscreened	-	3713_5:161524759-161524759 C>T_RLNSNMVGKIWILDTFFRNSKKADA
17:18075514-18075514 C>T	0.0	3713	MELANOMA	-	-	ID=COSM347878;OCCURENCE=1(lung)	-	MYO15A	uc010vxm.2,p.S244L|ENST00000579848,p.S227L|ENST00000451725,p.S214L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vxm.2	nonsynonymous SNV	exon8	c.C731T	p.S244L	SAPYLCSAPPSSSSRAAATLLCQPL	SAPYLCSAPPSSLSRAAATLLCQPL	2.0	10.0	unscreened	-	3713_17:18075514-18075514 C>T_SAPYLCSAPPSSLSRAAATLLCQPL
13:58299375-58299375 G>A	1.0	3713	MELANOMA	-	-	-	-	PCDH17	uc001vhr.1,p.D232N|NM_001040429,p.D1143N|ENST00000377918,p.D1143N|uc001vhq.1,p.D1143N|uc010aec.1,p.D1142N	protein_coding, nonsense_mediated_decay	uc010aec.1	nonsynonymous SNV	exon4	c.G3424A	p.D1142N	ESVDAEEVVREIDKLLQDCRGNDPV	ESVDAEEVVREINKLLQDCRGNDPV	3.0	5.0	unscreened	-	3713_13:58299375-58299375 G>A_ESVDAEEVVREINKLLQDCRGNDPV
11:10826549-10826549 G>T	1.0	3713	MELANOMA	-	-	-	-	EIF4G2	ENST00000532082,p.L88I|ENST00000524932,p.L88I|ENST00000525681,p.L88I|ENST00000527526,p.L88I|NM_001042559,p.L88I|NM_001172705,p.L88I|ENST00000396525,p.L88I|NM_001418,p.L88I|ENST00000530211,p.L88I|ENST00000532570,p.L88I|ENST00000339995,p.L88I|uc001mjd.3,p.L88I|ENST00000531416,p.L88I|uc009ygf.3,p.L88I|ENST00000530702,p.L66I|ENST00000526148,p.L88I|ENST00000527419,p.L19I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009ygf.3	nonsynonymous SNV	exon5	c.C262A	p.L88I	AIFRKVRGILNKLTPEKFDKLCLEL	AIFRKVRGILNKITPEKFDKLCLEL	10.0	5.0	unscreened	-	3713_11:10826549-10826549 G>T_AIFRKVRGILNKITPEKFDKLCLEL
1:154680478-154680478 G>A	0.0	3713	MELANOMA	-	-	-	-	KCNN3	uc001ffp.3,p.P724S|NM_170782,p.P419S|uc001ffo.3,p.P419S|ENST00000358505,p.P411S|uc031ppq.1,p.P411S|uc021pah.1,p.P739S|NM_002249,p.P724S|NM_001204087,p.P739S|ENST00000361147,p.P419S|ENST00000271915,p.P724S	protein_coding	uc031ppq.1	nonsynonymous SNV	exon8	c.C1231T	p.P411S	SPIGVSSTSFPTPYTSSSSC	SPIGVSSTSFPTSYTSSSSC	3.0	1.0	unscreened	-	3713_1:154680478-154680478 G>A_SPIGVSSTSFPTSYTSSSSC
2:231112645-231112645 G>A	0.0	3713	MELANOMA	-	-	-	-	SP140	ENST00000420434,p.G253R|uc010fxl.3,p.G253R|NM_007237,p.G253R|uc002vql.3,p.G253R|ENST00000392045,p.G253R|NM_001278451,p.G253R|uc002vqk.2,p.G253R	retained_intron, protein_coding, processed_transcript	uc010fxl.3	nonsynonymous SNV	exon8	c.G757A	p.G253R	LLPYDTEVLESNGMIDAARTYSTAP	LLPYDTEVLESNRMIDAARTYSTAP	5.0	5.0	unscreened	-	3713_2:231112645-231112645 G>A_LLPYDTEVLESNRMIDAARTYSTAP
4:119958334-119958334 C>T	0.0	3713	MELANOMA	-	-	-	-	SYNPO2	NM_001128934,p.S1107F|ENST00000434046,p.S1107F|uc010ina.3,p.S1107F	protein_coding	uc010ina.3	nonsynonymous SNV	exon5	c.C3320T	p.S1107F	DIIRTYFPAYLSSST	DIIRTYFPAYLSFST	3.0	8.0	unscreened	-	3713_4:119958334-119958334 C>T_DIIRTYFPAYLSFST
6:167754215-167754215 G>A	0.0	3713	MELANOMA	-	-	-	-	TTLL2	NM_031949,p.G276E|uc003qvs.1,p.G276E|ENST00000239587,p.G276E|ENST00000515138,p.G276E	protein_coding, nonsense_mediated_decay	uc003qvs.1	nonsynonymous SNV	exon3	c.G827A	p.G276E	GFKPLTIYVYQEGLVRFATEKFDLS	GFKPLTIYVYQEELVRFATEKFDLS	1.0	2.0	unscreened	-	3713_6:167754215-167754215 G>A_GFKPLTIYVYQEELVRFATEKFDLS
11:113803037-113803037 T>G	0.0	3713	MELANOMA	-	-	-	-	HTR3B	uc001pol.3,p.L121R|NM_006028,p.L132R|uc001pok.3,p.L132R|ENST00000260191,p.L132R|ENST00000537778,p.L121R	protein_coding	uc001pol.3	nonsynonymous SNV	exon4	c.T362G	p.L121R	INEFVDIERYPDLPYVYVNSSGTIE	INEFVDIERYPDRPYVYVNSSGTIE	1.0	3.0	unscreened	-	3713_11:113803037-113803037 T>G_INEFVDIERYPDRPYVYVNSSGTIE
3:17053263-17053263 C>T	0.0	3713	MELANOMA	-	-	ID=COSM228913;OCCURENCE=1(skin)	-	PLCL2	uc011awd.2,p.P683S|NM_015184,p.P683S|ENST00000396755,p.P683S|ENST00000418129,p.P683S|ENST00000432376,p.P683S	protein_coding, processed_transcript	uc011awd.2	nonsynonymous SNV	exon2	c.C2047T	p.P683S	QRTKTVHQNGDAPIFDESFEFQINL	QRTKTVHQNGDASIFDESFEFQINL	4.0	7.0	unscreened	-	3713_3:17053263-17053263 C>T_QRTKTVHQNGDASIFDESFEFQINL
10:115973754-115973754 G>A	0.0	3713	MELANOMA	-	-	ID=COSM233559;OCCURENCE=1(skin)	-	TDRD1	ENST00000369280,p.G698E|uc001lbf.3,p.G632E|uc001lbh.1,p.G689E|uc001lbi.1,p.G689E|ENST00000369281,p.G641E|NM_198795,p.G698E|ENST00000422662,p.G302E|uc001lbg.1,p.G698E|ENST00000251864,p.G698E|uc010qsc.2,p.G302E|ENST00000369282,p.G698E|uc001lbj.3,p.G407E	protein_coding	uc010qsc.2	nonsynonymous SNV	exon7	c.G905A	p.G302E	DVKETSVPLGVEGKVNPLEWTWVEL	DVKETSVPLGVEEKVNPLEWTWVEL	1.0	5.0	unscreened	-	3713_10:115973754-115973754 G>A_DVKETSVPLGVEEKVNPLEWTWVEL
4:152080480-152080480 G>A	0.0	3713	MELANOMA	-	-	-	-	SH3D19	uc003imb.2,p.P54L|ENST00000455740,p.P276L|uc003ime.2,p.P276L|ENST00000514152,p.P276L|uc010ipm.2,p.P276L|NM_001243349,p.P276L|NM_001009555,p.P276L|uc010ipl.1,p.P276L|ENST00000409252,p.P276L|ENST00000304527,p.P276L|ENST00000409598,p.P276L|NM_001128923,p.P276L	retained_intron, protein_coding, processed_transcript	uc010ipm.2	nonsynonymous SNV	exon9	c.C827T	p.P276L	KPGKCLHEDPQSPPPLPAEKPIGNT	KPGKCLHEDPQSLPPLPAEKPIGNT	5.0	2.0	unscreened	-	3713_4:152080480-152080480 G>A_KPGKCLHEDPQSLPPLPAEKPIGNT
10:95556983-95556983 G>A	0.0	3713	MELANOMA	-	-	-	-	LGI1	NM_005097,p.G366E|uc010qnv.2,p.G318E|ENST00000542308,p.G318E|uc001kjc.4,p.G366E|ENST00000371418,p.G366E	protein_coding, processed_transcript	uc010qnv.2	nonsynonymous SNV	exon6	c.G953A	p.G318E	AGFTTIYKWNGNGFYSHQSLHAWYR	AGFTTIYKWNGNEFYSHQSLHAWYR	1.0	6.0	unscreened	-	3713_10:95556983-95556983 G>A_AGFTTIYKWNGNEFYSHQSLHAWYR
6:32181926-32181926 G>A	0.0	3713	MELANOMA	-	-	-	-	NOTCH4	ENST00000375023,p.P710S|NM_004557,p.P710S|uc003obb.3,p.P710S	retained_intron, protein_coding, processed_transcript	uc003obb.3	nonsynonymous SNV	exon13	c.C2128T	p.P710S	APCAHGGTCYPQPSGYNCTCPTGYT	APCAHGGTCYPQSSGYNCTCPTGYT	7.0	1.0	unscreened	-	3713_6:32181926-32181926 G>A_APCAHGGTCYPQSSGYNCTCPTGYT
9:34521585-34521585 G>A	1.0	3713	MELANOMA	-	-	-	-	ENHO	uc003zun.1,p.R37C|NM_198573,p.R37C|ENST00000399775,p.R37C|uc022bgf.1,p.R37C	protein_coding	uc022bgf.1	nonsynonymous SNV	exon1	c.C109T	p.R37C	LLWVILCWACHSRSADVDSLSESSP	LLWVILCWACHSCSADVDSLSESSP	4.0	8.0	-	-	3713_9:34521585-34521585 G>A_LLWVILCWACHSCSADVDSLSESSP
16:77353898-77353898 G>A	0.0	3713	MELANOMA	-	-	-	-	ADAMTS18	NM_199355,p.L794F|uc010chc.1,p.L382F|uc002ffe.1,p.L490F|uc002ffc.4,p.L794F|ENST00000282849,p.L794F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010chc.1	nonsynonymous SNV	exon11	c.C1144T	p.L382F	LQVSSSYLAVRSLSQKYYLTGGWSI	LQVSSSYLAVRSFSQKYYLTGGWSI	1.0	1.0	unscreened	-	3713_16:77353898-77353898 G>A_LQVSSSYLAVRSFSQKYYLTGGWSI
6:44392244-44392244 C>T	1.0	3713	MELANOMA	-	-	-	-	CDC5L	NM_001253,p.A498V|uc003oxl.3,p.A498V|ENST00000371477,p.A498V	protein_coding	uc003oxl.3	nonsynonymous SNV	exon11	c.C1493T	p.A498V	PKNDFEIVLPENAEKELEEREIDDT	PKNDFEIVLPENVEKELEEREIDDT	6.0	3.0	-	-	3713_6:44392244-44392244 C>T_PKNDFEIVLPENVEKELEEREIDDT
6:4032737-4032737 C>T	1.0	3713	MELANOMA	-	-	-	-	PRPF4B	NM_003913,p.P329L|ENST00000538861,p.P315L|ENST00000480058,p.P329L|uc003mvv.3,p.P329L|ENST00000337659,p.P329L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003mvv.3	nonsynonymous SNV	exon2	c.C986T	p.P329L	SETDKEKKPIKSPSKDASSGKENRS	SETDKEKKPIKSLSKDASSGKENRS	10.0	2.0	unscreened	-	3713_6:4032737-4032737 C>T_SETDKEKKPIKSLSKDASSGKENRS
15:81212498-81212498 G>A	1.0	3713	MELANOMA	-	-	-	-	CEMIP	ENST00000394685,p.E621K|NM_018689,p.E621K|ENST00000356249,p.E621K|ENST00000220244,p.E621K|uc002bfw.1,p.E621K|NM_001293304,p.E621K|NM_001293298,p.E621K|uc010unn.1,p.E621K	retained_intron, protein_coding, nonsense_mediated_decay	uc010unn.1	nonsynonymous SNV	exon15	c.G1861A	p.E621K	LGHCFFTEDGPEERNTFDHCLGLLV	LGHCFFTEDGPEKRNTFDHCLGLLV	5.0	9.0	-	-	3713_15:81212498-81212498 G>A_LGHCFFTEDGPEKRNTFDHCLGLLV
1:43804298-43804298 G>A	1.0	3713	MELANOMA	-	-	-	1	MPL	NM_005373,p.E100K|uc001civ.3,p.E100K|ENST00000413998,p.E100K|ENST00000372470,p.E100K|uc009vwr.3,p.E93K|uc001ciw.3,p.E100K	protein_coding	uc009vwr.3	nonsynonymous SNV	exon3	c.G277A	p.E93K	GTRYVCQFPDQEEVRLFFPLHLWVK	GTRYVCQFPDQEKVRLFFPLHLWVK	1.0	2.0	unscreened	-	3713_1:43804298-43804298 G>A_GTRYVCQFPDQEKVRLFFPLHLWVK
19:9084982-9084982 G>A	0.0	3713	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.S2278L|ENST00000397910,p.S2278L|NM_024690,p.S2278L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.C6833T	p.S2278L	FPEKTTHSFRTISSLTHELTSRVTP	FPEKTTHSFRTILSLTHELTSRVTP	1.0	8.0	unscreened	-	3713_19:9084982-9084982 G>A_FPEKTTHSFRTILSLTHELTSRVTP
7:150710968-150710968 G>A	0.0	3713	MELANOMA	-	-	-	-	NOS3	NM_000603,p.E1138K|ENST00000297494,p.E1138K|uc003wif.3,p.E1138K|uc011kuy.2,p.E932K|ENST00000461406,p.E932K	retained_intron, protein_coding, processed_transcript	uc011kuy.2	nonsynonymous SNV	exon23	c.G2794A	p.E932K	TVQRILATEGDMELDEAGDVIGVLR	TVQRILATEGDMKLDEAGDVIGVLR	4.0	1.0	unscreened	-	3713_7:150710968-150710968 G>A_TVQRILATEGDMKLDEAGDVIGVLR
5:80476057-80476057 G>A	0.0	3713	MELANOMA	-	-	-	-	RASGRF2	ENST00000265080,p.R917Q|ENST00000503795,p.R917Q|uc003kha.2,p.R917Q|NM_006909,p.R917Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc003kha.2	nonsynonymous SNV	exon18	c.G2750A	p.R917Q	DKEFIIRRTATNRVLNVLRHWVSKH	DKEFIIRRTATNQVLNVLRHWVSKH	2.0	2.0	unscreened	-	3713_5:80476057-80476057 G>A_DKEFIIRRTATNQVLNVLRHWVSKH
20:2411598-2411598 C>T	0.0	3713	MELANOMA	-	-	-	-	TGM6	NM_198994,p.P631L|ENST00000202625,p.P631L|uc002wfy.1,p.P631L	protein_coding, processed_transcript	uc002wfy.1	nonsynonymous SNV	exon12	c.C1892T	p.P631L	GVAVTVEVTVVNPLIERVKDCALMV	GVAVTVEVTVVNLLIERVKDCALMV	1.0	7.0	unscreened	-	3713_20:2411598-2411598 C>T_GVAVTVEVTVVNLLIERVKDCALMV
X:123780653-123780653 C>T	1.0	3713	MELANOMA	-	-	-	-	TENM1	ENST00000422452,p.M529I|NM_001163278,p.M529I|ENST00000371130,p.M529I|uc004euj.3,p.M529I|NM_014253,p.M529I|NM_001163279,p.M528I|uc011muj.2,p.M528I|uc010nqy.3,p.M529I	protein_coding, processed_transcript	uc011muj.2	nonsynonymous SNV	exon9	c.G1584A	p.M528I	EQVFVLTTAIEIMDDCSTNCNGNGE	EQVFVLTTAIEIIDDCSTNCNGNGE	1.0	10.0	unscreened	-	3713_X:123780653-123780653 C>T_EQVFVLTTAIEIIDDCSTNCNGNGE
15:34032111-34032111 G>A	0.0	3713	MELANOMA	-	-	-	-	RYR3	NM_001036,p.D2579N|ENST00000389232,p.D2579N|NM_001243996,p.D2579N|uc001zhi.3,p.D2579N|ENST00000415757,p.D2579N|uc010bar.3,p.D2579N	retained_intron, protein_coding, processed_transcript	uc010bar.3	nonsynonymous SNV	exon51	c.G7735A	p.D2579N	SAIAGALPPDYLDTRITATLEKQIS	SAIAGALPPDYLNTRITATLEKQIS	1.0	3.0	unscreened	-	3713_15:34032111-34032111 G>A_SAIAGALPPDYLNTRITATLEKQIS
7:98460742-98460742 C>T	0.0	3713	MELANOMA	-	-	-	-	TMEM130	uc011kiq.2,p.G104S|ENST00000450876,p.G39S|ENST00000416379,p.G123S|ENST00000546258,p.G104S|ENST00000339375,p.G123S|uc003upo.3,p.G123S|uc011kir.2,p.G123S|NM_001134450,p.G123S|NM_152913,p.G123S	protein_coding, processed_transcript	uc011kir.2	nonsynonymous SNV	exon2	c.G367A	p.G123S	AADCWMCQPVARGFVVLPITEFLVG	AADCWMCQPVARSFVVLPITEFLVG	1.0	8.0	unscreened	-	3713_7:98460742-98460742 C>T_AADCWMCQPVARSFVVLPITEFLVG
7:100391446-100391446 G>A	0.0	3713	MELANOMA	-	-	-	-	ZAN	ENST00000542585,p.M2618I	protein_coding, polymorphic_pseudogene	ENST00000542585	nonsynonymous SNV	exon43	c.G7854A	p.M2618I	ALAGWRDRTLCAMECPAGTIYQSCM	ALAGWRDRTLCAIECPAGTIYQSCM	1.0	6.0	unscreened	-	3713_7:100391446-100391446 G>A_ALAGWRDRTLCAIECPAGTIYQSCM
X:125298636-125298636 C>T	0.0	3713	MELANOMA	-	-	-	2	DCAF12L2	uc004euk.2,p.M424I|ENST00000360028,p.M424I|NM_001013628,p.M424I|ENST00000538699,p.M424I	protein_coding	uc004euk.2	nonsynonymous SNV	exon1	c.G1272A	p.M424I	NQDDVWVNYFGGMGEFPNALYTHCY	NQDDVWVNYFGGIGEFPNALYTHCY	1.0	10.0	unscreened	-	3713_X:125298636-125298636 C>T_NQDDVWVNYFGGIGEFPNALYTHCY
2:231112645-231112645 G>A	0.0	3713	MELANOMA	-	-	-	-	SP140	ENST00000343805,p.G227R|uc002vqm.3,p.G227R|NM_001278452,p.G227R	retained_intron, protein_coding, processed_transcript	uc002vqm.3	nonsynonymous SNV	exon7	c.G679A	p.G227R	SLLPGGGVLESNGMIDAARTYSTAP	SLLPGGGVLESNRMIDAARTYSTAP	5.0	5.0	unscreened	-	3713_2:231112645-231112645 G>A_SLLPGGGVLESNRMIDAARTYSTAP
1:41094969-41094969 G>A	0.0	3713	MELANOMA	-	-	ID=COSM216314;OCCURENCE=3(pancreas)	-	RIMS3	uc001cfv.1,p.P183L|NM_014747,p.P183L|uc001cfu.1,p.P183L|ENST00000372684,p.P183L|ENST00000372683,p.P183L	protein_coding	uc001cfv.1	nonsynonymous SNV	exon6	c.C548T	p.P183L	LEVEVIEARGLTPKPGSKSLPATYI	LEVEVIEARGLTLKPGSKSLPATYI	2.0	1.0	unscreened	-	3713_1:41094969-41094969 G>A_LEVEVIEARGLTLKPGSKSLPATYI
1:155172908-155172908 G>A	1.0	3713	MELANOMA	-	-	-	-	THBS3	ENST00000428962,p.P112S	protein_coding, processed_transcript	ENST00000428962	nonsynonymous SNV	exon4	c.C334T	p.P112S	LHSILGEGNVPDPKHHYGVSGFHEQ	LHSILGEGNVPDSKHHYGVSGFHEQ	7.0	5.0	-	-	3713_1:155172908-155172908 G>A_LHSILGEGNVPDSKHHYGVSGFHEQ
14:20444362-20444362 T>C	0.0	3713	MELANOMA	-	-	-	-	OR4K15	ENST00000305051,p.F229L|uc010tkx.2,p.F229L|NM_001005486,p.F229L	protein_coding	uc010tkx.2	nonsynonymous SNV	exon1	c.T685C	p.F229L	YVVSLLIVADSGFLSLSSFLLLVVS	YVVSLLIVADSGLLSLSSFLLLVVS	1.0	6.0	unscreened	-	3713_14:20444362-20444362 T>C_YVVSLLIVADSGLLSLSSFLLLVVS
17:30349469-30349469 C>T	1.0	3713	MELANOMA	-	-	-	-	LRRC37B	ENST00000394713,p.P435L|ENST00000327564,p.P462L|uc010wbx.2,p.P353L|ENST00000584368,p.P447L|uc010csu.3,p.P435L|uc002hgu.3,p.P435L|uc031qzt.1,p.P353L|ENST00000341671,p.P435L|uc031qzs.1,p.P353L|ENST00000543378,p.P353L|NM_052888,p.P435L|ENST00000578674,p.P447L|uc031qzu.1,p.P353L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qzu.1	nonsynonymous SNV	exon1	c.C1058T	p.P353L	LSITTEPTTEVKPSPTTEETSAQPP	LSITTEPTTEVKLSPTTEETSAQPP	9.0	6.0	unscreened	-	3713_17:30349469-30349469 C>T_LSITTEPTTEVKLSPTTEETSAQPP
16:48177938-48177938 G>A	0.0	3713	MELANOMA	-	-	-	-	ABCC12	ENST00000527640,p.S53F|ENST00000416054,p.S53F|ENST00000529504,p.S53F|ENST00000311303,p.S53F|ENST00000448542,p.S53F|ENST00000532494,p.S53F|ENST00000497206,p.S53F|ENST00000529084,p.S53F|uc002efc.1,p.S53F|ENST00000533639,p.S53F|ENST00000534418,p.S53F|NM_033226,p.S53F|uc002efe.1,p.S53F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002efe.1	nonsynonymous SNV	exon3	c.C158T	p.S53F	LAPNPVDDAGLLSFATFSWLTPVMV	LAPNPVDDAGLLFFATFSWLTPVMV	1.0	2.0	unscreened	-	3713_16:48177938-48177938 G>A_LAPNPVDDAGLLFFATFSWLTPVMV
11:71146774-71146774 C>T	1.0	3713	MELANOMA	-	-	-	-	DHCR7	ENST00000407721,p.D359N|ENST00000355527,p.D359N|NM_001360,p.D359N|NM_001163817,p.D359N|uc001oqk.3,p.D359N|ENST00000533800,p.D109N|uc001oql.3,p.D359N	retained_intron, protein_coding	uc001oql.3	nonsynonymous SNV	exon9	c.G1075A	p.D359N	GYYIFRVANHQKDLFRRTDGRCLIW	GYYIFRVANHQKNLFRRTDGRCLIW	5.0	7.0	-	-	3713_11:71146774-71146774 C>T_GYYIFRVANHQKNLFRRTDGRCLIW
7:99272168-99272168 C>T	0.0	3713	MELANOMA	-	-	ID=COSM230123;OCCURENCE=1(NS)	-	CYP3A5	uc003urt.3,p.G69E|uc011kiy.2,p.G59E|NM_001291830,p.G59E|ENST00000222982,p.G69E|ENST00000343703,p.G59E|uc003urq.3,p.G69E|NM_000777,p.G69E|ENST00000439761,p.G69E|NM_001190484,p.G69E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kiy.2	nonsynonymous SNV	exon4	c.G176A	p.G59E	LWKFDTECYKKYGKMWGTYEGQLPV	LWKFDTECYKKYEKMWGTYEGQLPV	1.0	9.0	unscreened	-	3713_7:99272168-99272168 C>T_LWKFDTECYKKYEKMWGTYEGQLPV
10:5541200-5541200 C>T	0.0	3713	MELANOMA	-	-	-	-	CALML5	uc001iic.2,p.E68K|NM_017422,p.E68K|ENST00000380332,p.E68K	protein_coding	uc001iic.2	nonsynonymous SNV	exon1	c.G202A	p.E68K	VDSDGDGEISFQEFLTAAKKARAGL	VDSDGDGEISFQKFLTAAKKARAGL	1.0	9.0	unscreened	-	3713_10:5541200-5541200 C>T_VDSDGDGEISFQKFLTAAKKARAGL
1:151810795-151810795 G>A	0.0	3713	MELANOMA	-	-	-	-	C2CD4D	uc021oyv.1,p.S224F|NM_001136003,p.S224F|uc010pdq.1,p.S224F|ENST00000454109,p.S224F	protein_coding	uc021oyv.1	nonsynonymous SNV	exon1	c.C671T	p.S224F	LRLGPRGGQLRLSTEYQAGPGRLRL	LRLGPRGGQLRLFTEYQAGPGRLRL	1.0	1.0	unscreened	-	3713_1:151810795-151810795 G>A_LRLGPRGGQLRLFTEYQAGPGRLRL
11:107224460-107224460 A>T	1.0	3713	MELANOMA	-	-	-	-	CWF19L2	NM_152434,p.F625L|uc010rvp.2,p.F625L|ENST00000433523,p.F625L|ENST00000282251,p.F625L|ENST00000431778,p.F506L	retained_intron, protein_coding, nonsense_mediated_decay	uc010rvp.2	nonsynonymous SNV	exon13	c.T1875A	p.F625L	NQNKLFMRMASKFMGKTDGDYYTLD	NQNKLFMRMASKLMGKTDGDYYTLD	4.0	6.0	-	-	3713_11:107224460-107224460 A>T_NQNKLFMRMASKLMGKTDGDYYTLD
15:39880781-39880781 G>A	1.0	3713	MELANOMA	-	-	-	-	THBS1	NM_003246,p.G509E|ENST00000260356,p.G509E|uc001zkh.3,p.G509E	retained_intron, protein_coding	uc001zkh.3	nonsynonymous SNV	exon10	c.G1526A	p.G509E	PWSPWDICSVTCGGGVQKRSRLCNN	PWSPWDICSVTCEGGVQKRSRLCNN	10.0	9.0	-	-	3713_15:39880781-39880781 G>A_PWSPWDICSVTCEGGVQKRSRLCNN
15:101593590-101593590 G>A	0.0	3713	MELANOMA	-	-	-	-	LRRK1	ENST00000388948,p.S1340N|uc002bwr.3,p.S1340N|NM_024652,p.S1340N|ENST00000284395,p.S1337N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bwr.3	nonsynonymous SNV	exon26	c.G4019A	p.S1340N	HPLCFALELAPLSSLNTVLSENARD	HPLCFALELAPLNSLNTVLSENARD	3.0	8.0	unscreened	-	3713_15:101593590-101593590 G>A_HPLCFALELAPLNSLNTVLSENARD
19:21992040-21992040 A>G	1.0	3713	MELANOMA	-	-	-	-	ZNF43	NM_003423,p.F267L|ENST00000598381,p.F261L|ENST00000595461,p.F261L|uc002nql.4,p.F261L|uc002nqm.4,p.F261L|NM_001256648,p.F261L|uc002nqj.4,p.F267L|NM_001256653,p.F276L|ENST00000594012,p.F261L|ENST00000354959,p.F267L|NM_001256650,p.F261L|uc031rka.1,p.F276L|uc002nqk.4,p.F202L|uc010ecv.4,p.F261L|NM_001256649,p.F261L|NM_001256654,p.F202L|uc031rkb.1,p.F202L|NM_001256651,p.F202L	retained_intron, protein_coding, processed_transcript	uc031rkb.1	nonsynonymous SNV	exon3	c.T604C	p.F202L	YKLYKCEECGKAFNKSSILTTHKII	YKLYKCEECGKALNKSSILTTHKII	4.0	4.0	unscreened	-	3713_19:21992040-21992040 A>G_YKLYKCEECGKALNKSSILTTHKII
9:101304321-101304321 G>A	0.0	3713	MELANOMA	-	-	-	-	GABBR2	NM_005458,p.S155F|uc004ays.3,p.S155F|ENST00000259455,p.S155F	protein_coding, processed_transcript	uc004ays.3	nonsynonymous SNV	exon3	c.C464T	p.S155F	AESLQGWNLVQLSFAATTPVLADKK	AESLQGWNLVQLFFAATTPVLADKK	1.0	8.0	unscreened	-	3713_9:101304321-101304321 G>A_AESLQGWNLVQLFFAATTPVLADKK
14:20020183-20020183 G>A	0.0	3713	MELANOMA	-	-	-	-	POTEM	uc001vwc.3,p.S13F|ENST00000551509,p.S13F|NM_001145442,p.S13F|ENST00000547848,p.S13F|ENST00000547722,p.S13F	protein_coding, nonsense_mediated_decay	uc001vwc.3	nonsynonymous SNV	exon1	c.C38T	p.S13F	MVAEAGSMPAASSVKKPFGLRSKMG	MVAEAGSMPAASFVKKPFGLRSKMG	1.0	1.0	unscreened	-	3713_14:20020183-20020183 G>A_MVAEAGSMPAASFVKKPFGLRSKMG
4:70146547-70146547 C>T	0.0	3713	MELANOMA	-	-	-	-	UGT2B28	uc003hej.3,p.S110L|ENST00000335568,p.S110L|NM_001207004,p.S110L|NM_053039,p.S110L|uc010ihr.3,p.S110L|ENST00000511240,p.S110L	protein_coding	uc010ihr.3	nonsynonymous SNV	exon1	c.C329T	p.S110L	SDIQKDSFWLYFSQEQEILWEFHDI	SDIQKDSFWLYFLQEQEILWEFHDI	1.0	4.0	unscreened	-	3713_4:70146547-70146547 C>T_SDIQKDSFWLYFLQEQEILWEFHDI
11:56954826-56954826 G>A	0.0	3713	MELANOMA	-	-	-	-	LRRC55	ENST00000497933,p.D300N|NM_001005210,p.D300N|uc001njl.2,p.D300N	protein_coding	uc001njl.2	nonsynonymous SNV	exon2	c.G898A	p.D300N	SFKACHLTLTLDDYLFIAFVGFVVS	SFKACHLTLTLDNYLFIAFVGFVVS	1.0	3.0	unscreened	-	3713_11:56954826-56954826 G>A_SFKACHLTLTLDNYLFIAFVGFVVS
14:60903682-60903682 C>T	0.0	3713	MELANOMA	-	-	-	-	C14orf39	ENST00000321731,p.G549R|uc001xez.4,p.G549R|uc010apo.3,p.G260R|NM_174978,p.G549R	protein_coding, nonsense_mediated_decay	uc010apo.3	nonsynonymous SNV	exon13	c.G778A	p.G260R	FPSDTSTHTFGAGKDDFSFPFSFGQ	FPSDTSTHTFGARKDDFSFPFSFGQ	1.0	10.0	unscreened	-	3713_14:60903682-60903682 C>T_FPSDTSTHTFGARKDDFSFPFSFGQ
3:133099759-133099759 G>A	0.0	3713	MELANOMA	-	-	-	-	TMEM108	NM_001136469,p.E402K|NM_023943,p.E402K|ENST00000321871,p.E402K|uc003eph.3,p.E402K|uc003epj.1,p.E402K|ENST00000393130,p.E402K|ENST00000515826,p.E402K|uc003epi.3,p.E402K	retained_intron, protein_coding, processed_transcript	uc003epj.1	nonsynonymous SNV	exon3	c.G1204A	p.E402K	SRVSESTISGAKEETVATLTMTDRV	SRVSESTISGAKKETVATLTMTDRV	1.0	2.0	unscreened	-	3713_3:133099759-133099759 G>A_SRVSESTISGAKKETVATLTMTDRV
7:93055703-93055703 G>A	0.0	3713	MELANOMA	-	-	-	-	CALCR	ENST00000359558,p.P498S|ENST00000426151,p.P464S|ENST00000421592,p.P480S|uc003umv.2,p.P498S|ENST00000394441,p.P464S|NM_001742,p.P464S|NM_001164738,p.P464S|ENST00000360249,p.P480S|uc003umw.2,p.P464S|uc022ahi.1,p.P464S|NM_001164737,p.P498S	protein_coding, nonsense_mediated_decay	uc022ahi.1	nonsynonymous SNV	exon13	c.C1390T	p.P464S	ANNQGEESAEIIPLNIIEQESSA	ANNQGEESAEIISLNIIEQESSA	1.0	5.0	unscreened	-	3713_7:93055703-93055703 G>A_ANNQGEESAEIISLNIIEQESSA
9:3898820-3898820 C>T	1.0	3713	MELANOMA	-	-	-	-	GLIS3	ENST00000324333,p.E512K|uc003zhz.1,p.E445K|NM_152629,p.E512K|uc010mhf.1,p.E61K|uc003zhw.1,p.E512K|ENST00000381971,p.E667K|NM_001042413,p.E667K|uc003zhx.1,p.E667K|uc003zhy.1,p.E445K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010mhf.1	nonsynonymous SNV	exon4	c.G181A	p.E61K	EQQARKKLRSSTELHPDLLTDCLTV	EQQARKKLRSSTKLHPDLLTDCLTV	1.0	2.0	-	-	3713_9:3898820-3898820 C>T_EQQARKKLRSSTKLHPDLLTDCLTV
15:39880416-39880416 C>T	1.0	3713	MELANOMA	-	-	-	-	THBS1	ENST00000260356,p.P490S|uc001zkh.3,p.P490S|NM_003246,p.P490S	retained_intron, protein_coding	uc001zkh.3	nonsynonymous SNV	exon9	c.C1468T	p.P490S	ARETKACKKDACPINGGWGPWSPWD	ARETKACKKDACSINGGWGPWSPWD	10.0	9.0	-	-	3713_15:39880416-39880416 C>T_ARETKACKKDACSINGGWGPWSPWD
5:90025524-90025524 T>C	0.0	3713	MELANOMA	-	-	-	-	GPR98	uc003kjv.3,p.S1098P|NM_032119,p.S3498P|ENST00000405460,p.S3498P|uc003kju.3,p.S3498P	retained_intron, protein_coding, processed_transcript	uc003kjv.3	nonsynonymous SNV	exon18	c.T3292C	p.S1098P	WEMGQSSFRYFQSVDFAAVNRIHSF	WEMGQSSFRYFQPVDFAAVNRIHSF	1.0	2.0	unscreened	-	3713_5:90025524-90025524 T>C_WEMGQSSFRYFQPVDFAAVNRIHSF
11:6048104-6048104 C>T	0.0	3713	MELANOMA	-	-	-	-	OR56A1	uc010qzw.2,p.M277I|ENST00000316650,p.M277I|NM_001001917,p.M277I	protein_coding	uc010qzw.2	nonsynonymous SNV	exon1	c.G831A	p.M277I	VVLTNVARKKVPMDILILLNVLHHL	VVLTNVARKKVPIDILILLNVLHHL	1.0	3.0	unscreened	-	3713_11:6048104-6048104 C>T_VVLTNVARKKVPIDILILLNVLHHL
11:63276396-63276396 C>T	0.0	3713	MELANOMA	-	-	-	-	LGALS12	NM_033101,p.P124L|ENST00000255684,p.P124L|ENST00000394618,p.P124L|uc009yot.2,p.P84L|uc001nxb.2,p.P124L|NM_001142537,p.P63L|uc001nxe.2,p.P63L|ENST00000425950,p.P63L|ENST00000340246,p.P125L|NM_001142535,p.P125L|NM_001142538,p.P63L|NM_001142536,p.P124L|uc001nxd.2,p.P63L|uc001nxa.2,p.P124L|uc001nxc.2,p.P125L|ENST00000415491,p.P63L	protein_coding	uc009yot.2	nonsynonymous SNV	exon2	c.C251T	p.P84L	LHGGRWQREARWPHLALRRGSSFLI	LHGGRWQREARWLHLALRRGSSFLI	1.0	3.0	unscreened	-	3713_11:63276396-63276396 C>T_LHGGRWQREARWLHLALRRGSSFLI
2:48897003-48897003 G>A	0.0	3713	MELANOMA	-	-	-	-	GTF2A1L,STON1-GTF2A1L	ENST00000394751,p.G1031E|uc002rwp.2,p.G1078E|NM_001193487,p.G340E|uc002rws.2,p.G374E|uc010yol.2,p.G1031E|NM_006872,p.G374E|ENST00000430487,p.G340E|ENST00000403751,p.G374E|ENST00000405008,p.G1078E|NM_001198593,p.G1078E|ENST00000508440,p.G23E|ENST00000394754,p.G1078E|uc010yom.2,p.G340E|NM_001198594,p.G1031E|ENST00000402114,p.G1078E|NM_172311,p.G1078E|ENST00000309827,p.G1078E|uc021vhf.1,p.G1078E	protein_coding, processed_transcript, nonsense_mediated_decay	uc021vhf.1	nonsynonymous SNV	exon9	c.G3233A	p.G1078E	GSTRDADENEFLGNIDGGDLKVPEE	GSTRDADENEFLENIDGGDLKVPEE	2.0	10.0	unscreened	-	3713_2:48897003-48897003 G>A_GSTRDADENEFLENIDGGDLKVPEE
7:54636881-54636881 C>T	0.0	3713	MELANOMA	-	-	-	-	VSTM2A	ENST00000404951,p.S300F|ENST00000402613,p.S231F|NM_001301009,p.S231F	retained_intron, protein_coding, processed_transcript	NM_001301009	nonsynonymous SNV	exon5	c.C692T	p.S231F	KSTERTAKLTLNSKHHPAPTVL	KSTERTAKLTLNFKHHPAPTVL	1.0	9.0	unscreened	-	3713_7:54636881-54636881 C>T_KSTERTAKLTLNFKHHPAPTVL
X:44094668-44094668 G>A	0.0	3713	MELANOMA	-	-	ID=COSM256846;OCCURENCE=1(large_intestine)	-	EFHC2	NM_025184,p.R436C|ENST00000420999,p.R436C|uc004dgb.4,p.R436C|uc022bvg.1,p.R14C	protein_coding	uc022bvg.1	nonsynonymous SNV	exon4	c.C40T	p.R14C	EKDSYGSKSNILRFFAKLVTDKCVD	EKDSYGSKSNILCFFAKLVTDKCVD	1.0	10.0	unscreened	-	3713_X:44094668-44094668 G>A_EKDSYGSKSNILCFFAKLVTDKCVD
3:195501062-195501062 G>A	0.0	3713	MELANOMA	-	-	-	2	MUC4	uc021xjp.1,p.S4353F|ENST00000463781,p.S4353F|ENST00000349607,p.S66F|ENST00000475231,p.S4353F|uc003fvp.3,p.S66F|uc003fvo.3,p.S117F|uc021xjk.1,p.S94F|ENST00000480843,p.S4353F|ENST00000346145,p.S117F|NM_018406,p.S4353F|ENST00000478156,p.S4353F|ENST00000477756,p.S4353F|NM_004532,p.S117F|uc021xjn.1,p.S94F|NM_138297,p.S66F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon4	c.C13058T	p.S4353F	LFKPATGFPLGSSLRDSLYFTDNGQ	LFKPATGFPLGSFLRDSLYFTDNGQ	1.0	9.0	unscreened	-	3713_3:195501062-195501062 G>A_LFKPATGFPLGSFLRDSLYFTDNGQ
15:43572095-43572095 G>A	0.0	3713	MELANOMA	-	-	-	-	TGM7	NM_052955,p.P469L|ENST00000452443,p.P469L|uc001zrf.1,p.P469L	retained_intron, protein_coding	uc001zrf.1	nonsynonymous SNV	exon10	c.C1406T	p.P469L	AVFMKASRKMLGPQRASLPFLDLLE	AVFMKASRKMLGLQRASLPFLDLLE	1.0	9.0	unscreened	-	3713_15:43572095-43572095 G>A_AVFMKASRKMLGLQRASLPFLDLLE
15:90335684-90335684 G>A	0.0	3713	MELANOMA	-	-	-	-	ANPEP	ENST00000300060,p.P787S|NM_001150,p.P787S|uc002bop.4,p.P787S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bop.4	nonsynonymous SNV	exon17	c.C2359T	p.P787S	LFKQWMENPNNNPIHPNLRSTVYCN	LFKQWMENPNNNSIHPNLRSTVYCN	5.0	9.0	unscreened	-	3713_15:90335684-90335684 G>A_LFKQWMENPNNNSIHPNLRSTVYCN
1:223284560-223284560 G>A	0.0	3713	MELANOMA	-	-	-	-	TLR5	uc001hnv.2,p.P605L|ENST00000540964,p.P605L|uc001hnw.2,p.P605L|NM_003268,p.P605L|ENST00000342210,p.P605L|uc021pjl.1,p.P605L|ENST00000366881,p.P605L	protein_coding, processed_transcript	uc021pjl.1	nonsynonymous SNV	exon1	c.C1814T	p.P605L	WLNHTNVTIAGPPADIYCVYPDSFS	WLNHTNVTIAGPLADIYCVYPDSFS	4.0	1.0	unscreened	-	3713_1:223284560-223284560 G>A_WLNHTNVTIAGPLADIYCVYPDSFS
20:8717692-8717692 T>G	1.0	3713	MELANOMA	-	-	-	-	PLCB1	ENST00000378641,p.F687L|uc002wna.4,p.F687L|ENST00000338037,p.F687L|uc010zrb.1,p.F586L|uc002wnd.1,p.F264L|NM_015192,p.F687L|NM_182734,p.F687L|ENST00000378637,p.F687L|uc002wnc.1,p.F586L|uc002wnb.4,p.F687L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zrb.1	nonsynonymous SNV	exon20	c.T1758G	p.F586L	ANTLSVKIISGQFLSDKKVGTYVEV	ANTLSVKIISGQLLSDKKVGTYVEV	1.0	9.0	-	-	3713_20:8717692-8717692 T>G_ANTLSVKIISGQLLSDKKVGTYVEV
18:61468205-61468259 ATAAACATGTACGTTCTGCTGCCTGAGAATGACCTCTCTGAAGTAAGTTACGACT>-	0.0	3713	MELANOMA	-	-	-	-	SERPINB7	uc002ljm.4,p.235_248del|NM_001261831,p.218_231del|ENST00000546027,p.235_248del|ENST00000540675,p.218_231del|NM_001261830,p.235_248del|NM_001040147,p.235_248del|uc002ljl.4,p.235_248del|ENST00000336429,p.235_248del|NM_003784,p.235_248del|uc010xet.3,p.218_231del|ENST00000398019,p.235_248del|uc010dqg.4,p.235_248del	protein_coding	uc010xet.3	nonframeshift deletion	exon6	c.652_693del	p.218_231del	SMKILELRYNGGINMYVLLPENDLS	SMKILELRYNGGIENKLTFQNLMEW	1.0	1.0	unscreened	-	3713_18:61468205-61468259 ATAAACATGTACGTTCTGCTGCCTGAGAATGACCTCTCTGAAGTAAGTTACGACT>-_SMKILELRYNGGIENKLTFQNLMEW
7:126086327-126086327 G>A	0.0	3713	MELANOMA	-	-	-	-	GRM8	ENST00000472701,p.H844Y|ENST00000339582,p.H844Y|NM_000845,p.H844Y|ENST00000444921,p.H844Y|uc003vlr.2,p.H844Y|NM_001127323,p.H844Y|ENST00000358373,p.H844Y|uc003vlt.2,p.H844Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc003vlt.2	nonsynonymous SNV	exon10	c.C2530T	p.H844Y	MLYMPKVYIIIFHPEQNVQKRKRSF	MLYMPKVYIIIFYPEQNVQKRKRSF	1.0	2.0	unscreened	-	3713_7:126086327-126086327 G>A_MLYMPKVYIIIFYPEQNVQKRKRSF
17:18945159-18945159 C>T	0.0	3713	MELANOMA	-	-	-	-	GRAP	NM_006613,p.G46E|ENST00000573099,p.G46E|ENST00000395635,p.G17E|ENST00000284154,p.G46E|uc002guy.3,p.G46E|ENST00000583020,p.G46E	retained_intron, protein_coding, nonsense_mediated_decay	uc002guy.3	nonsynonymous SNV	exon2	c.G137A	p.G46E	QNWYKAELRGVEGFIPKNYIRVKPH	QNWYKAELRGVEEFIPKNYIRVKPH	3.0	5.0	unscreened	-	3713_17:18945159-18945159 C>T_QNWYKAELRGVEEFIPKNYIRVKPH
12:10962107-10962107 G>A	0.0	3713	MELANOMA	-	-	-	-	TAS2R9	NM_023917,p.P190S|uc001qyx.3,p.P190S|ENST00000240691,p.P190S	protein_coding	uc001qyx.3	nonsynonymous SNV	exon1	c.C568T	p.P190S	FKQLTLNLGVMVPFILCLISFFLLL	FKQLTLNLGVMVSFILCLISFFLLL	1.0	5.0	unscreened	-	3713_12:10962107-10962107 G>A_FKQLTLNLGVMVSFILCLISFFLLL
3:50323918-50323918 G>A	1.0	3713	MELANOMA	-	-	-	-	LSMEM2	ENST00000316436,p.M25I|NM_153215,p.M25I|uc003cyz.3,p.M25I	protein_coding	uc003cyz.3	nonsynonymous SNV	exon2	c.G75A	p.M25I	MPEETQEDSVAPMMPSQRSRGPLAP	MPEETQEDSVAPIMPSQRSRGPLAP	1.0	1.0	unscreened	-	3713_3:50323918-50323918 G>A_MPEETQEDSVAPIMPSQRSRGPLAP
9:43853589-43853589 C>T	0.0	3713	MELANOMA	-	-	-	-	CNTNAP3B	NM_001201380,p.P617S|uc004ada.2,p.P617S|ENST00000479351,p.P524S|ENST00000377564,p.P617S	protein_coding, processed_transcript, nonsense_mediated_decay	uc004ada.2	nonsynonymous SNV	exon12	c.C1849T	p.P617S	YYIDADGSGPLGPFLVYCNMTADSA	YYIDADGSGPLGSFLVYCNMTADSA	1.0	1.0	unscreened	-	3713_9:43853589-43853589 C>T_YYIDADGSGPLGSFLVYCNMTADSA
3:120833858-120833858 C>T	0.0	3713	MELANOMA	-	-	-	-	STXBP5L	NM_014980,p.S186F|ENST00000497029,p.S186F|uc003eec.4,p.S186F|ENST00000472879,p.S186F|ENST00000471454,p.S186F|ENST00000471262,p.S186F|ENST00000273666,p.S186F|uc011bji.2,p.S186F|ENST00000492541,p.S186F	protein_coding, nonsense_mediated_decay	uc011bji.2	nonsynonymous SNV	exon6	c.C557T	p.S186F	TERGNTHIVNIESFILSGYVIMWNK	TERGNTHIVNIEFFILSGYVIMWNK	1.0	7.0	unscreened	-	3713_3:120833858-120833858 C>T_TERGNTHIVNIEFFILSGYVIMWNK
12:124416001-124416001 G>A	1.0	3713	MELANOMA	-	-	-	-	DNAH10	ENST00000409039,p.E4182K|NM_207437,p.E4182K|uc001uft.4,p.E4182K|uc001ufu.4,p.E95K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ufu.4	nonsynonymous SNV	exon6	c.G283A	p.E95K	TQAARDMWAHLLELQPQTGESSSGI	TQAARDMWAHLLKLQPQTGESSSGI	1.0	6.0	unscreened	-	3713_12:124416001-124416001 G>A_TQAARDMWAHLLKLQPQTGESSSGI
9:77377698-77377698 T>A	0.0	3713	MELANOMA	-	-	-	-	TRPM6	NM_017662,p.R1297W|NM_001177310,p.R1292W|ENST00000360774,p.R1297W|uc004ajl.1,p.R1297W|uc004ajk.1,p.R1292W|ENST00000361255,p.R1292W|uc022bib.1,p.R1292W|uc004ajj.1,p.R253W|ENST00000451710,p.R1297W|ENST00000449912,p.R1292W|NM_001177311,p.R1292W|ENST00000376864,p.R1297W	protein_coding, processed_transcript	uc022bib.1	nonsynonymous SNV	exon26	c.A3874T	p.R1292W	SLAGGRHPPRVQRGALLEITNSKRE	SLAGGRHPPRVQWGALLEITNSKRE	1.0	3.0	unscreened	-	3713_9:77377698-77377698 T>A_SLAGGRHPPRVQWGALLEITNSKRE
11:108382870-108382870 C>T	0.0	3713	MELANOMA	-	-	-	-	EXPH5	NM_015065,p.A1122T|ENST00000525344,p.A1115T|ENST00000265843,p.A1122T|ENST00000443411,p.A934T|uc001pkk.3,p.A1122T|uc010rvy.2,p.A934T|ENST00000428840,p.A1046T|ENST00000526312,p.A1046T|uc010rvz.2,p.A966T|ENST00000533052,p.A934T	protein_coding, processed_transcript	uc010rvz.2	nonsynonymous SNV	exon4	c.G2896A	p.A966T	VRKGPLPFLINRAMSCPSGEPHAST	VRKGPLPFLINRTMSCPSGEPHAST	1.0	2.0	unscreened	-	3713_11:108382870-108382870 C>T_VRKGPLPFLINRTMSCPSGEPHAST
8:6912991-6912991 C>T	0.0	3713	MELANOMA	-	-	-	-	DEFA5	uc003wra.1,p.E83K|NM_021010,p.E83K|ENST00000330590,p.E83K	protein_coding	uc003wra.1	nonsynonymous SNV	exon2	c.G247A	p.E83K	RCATRESLSGVCEISGRLYRLCCR	RCATRESLSGVCKISGRLYRLCCR	1.0	9.0	unscreened	-	3713_8:6912991-6912991 C>T_RCATRESLSGVCKISGRLYRLCCR
8:4277495-4277495 C>T	0.0	3713	MELANOMA	-	-	-	-	CSMD1	ENST00000539096,p.G132D|ENST00000542608,p.G132D|ENST00000602557,p.G132D|ENST00000537824,p.G132D|ENST00000602723,p.G132D|NM_033225,p.G132D|uc022aqr.1,p.G132D|ENST00000400186,p.G132D|ENST00000520002,p.G132D	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon3	c.G395A	p.G132D	LWFTTDFAVSAQGFKALYEVLPSHT	LWFTTDFAVSAQDFKALYEVLPSHT	1.0	1.0	unscreened	-	3713_8:4277495-4277495 C>T_LWFTTDFAVSAQDFKALYEVLPSHT
9:136509409-136509409 G>A	0.0	3713	MELANOMA	-	-	-	-	DBH	NM_000787,p.E331K|ENST00000393056,p.E331K|uc004cel.3,p.E331K	protein_coding	uc004cel.3	nonsynonymous SNV	exon5	c.G991A	p.E331K	FGGPGSSRYLRLEVHYHNPLVIEGR	FGGPGSSRYLRLKVHYHNPLVIEGR	1.0	10.0	unscreened	-	3713_9:136509409-136509409 G>A_FGGPGSSRYLRLKVHYHNPLVIEGR
21:15872876-15872876 C>T	0.0	3713	MELANOMA	-	-	-	-	SAMSN1	uc002yju.2,p.E248K|NM_022136,p.E248K|NM_001286523,p.E179K|ENST00000400566,p.E248K|ENST00000285670,p.E316K|ENST00000400564,p.E80K|uc010gky.2,p.E80K|uc002yjv.1,p.E316K|NM_001256370,p.E316K	protein_coding, processed_transcript	uc010gky.2	nonsynonymous SNV	exon2	c.G238A	p.E80K	RRSNSKKSKTLQEFLERIHLQEYTS	RRSNSKKSKTLQKFLERIHLQEYTS	5.0	2.0	unscreened	-	3713_21:15872876-15872876 C>T_RRSNSKKSKTLQKFLERIHLQEYTS
X:129200784-129200784 C>T	1.0	3713	MELANOMA	-	-	-	1	ELF4	NM_001421,p.G635E|uc004eve.4,p.G635E|uc004evd.4,p.G635E|ENST00000335997,p.G635E|NM_001127197,p.G635E|ENST00000308167,p.G635E	protein_coding	uc004eve.4	nonsynonymous SNV	exon9	c.G1904A	p.G635E	SLLMAEPSVTTSGSLLTRSPTPAPF	SLLMAEPSVTTSESLLTRSPTPAPF	4.0	8.0	-	-	3713_X:129200784-129200784 C>T_SLLMAEPSVTTSESLLTRSPTPAPF
18:31250692-31250692 C>T	0.0	3713	MELANOMA	-	-	-	-	ASXL3	NM_030632,p.T178I|ENST00000592288,p.T179I|ENST00000269197,p.T178I|uc010dmg.1,p.T178I	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dmg.1	nonsynonymous SNV	exon6	c.C533T	p.T178I	KRRNGVSMMVNKTVPRVVLTPLKVS	KRRNGVSMMVNKIVPRVVLTPLKVS	1.0	4.0	unscreened	-	3713_18:31250692-31250692 C>T_KRRNGVSMMVNKIVPRVVLTPLKVS
17:27064506-27064571 CGACGTGGGCAGTGTCCGCATGCGGAGGCCTGTGCAGGGACAGCGAGCGGTCCTGGGCGGCAGGGT>-	0.0	3713	MELANOMA	-	-	-	-	NEK8	ENST00000543014,p.267_289del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000543014	nonframeshift deletion	exon5	c.801_866del	p.267_289del	QPLCIRALLNLHTDVGSVRMRRPVQ	QPLCIRALLNLHTWAPSGSTGGLRQ	2.0	1.0	unscreened	-	3713_17:27064506-27064571 CGACGTGGGCAGTGTCCGCATGCGGAGGCCTGTGCAGGGACAGCGAGCGGTCCTGGGCGGCAGGGT>-_QPLCIRALLNLHTWAPSGSTGGLRQ
19:4817812-4817812 G>A	1.0	3713	MELANOMA	-	-	-	-	TICAM1	uc002mbi.4,p.S193F|NM_182919,p.S193F|ENST00000248244,p.S193F|uc021unj.1,p.S193F	protein_coding	uc021unj.1	nonsynonymous SNV	exon1	c.C578T	p.S193F	PIDGVSDWSQGCSLRSTGSPASLAS	PIDGVSDWSQGCFLRSTGSPASLAS	5.0	3.0	unscreened	-	3713_19:4817812-4817812 G>A_PIDGVSDWSQGCFLRSTGSPASLAS
7:130021618-130021618 G>A	0.0	3713	MELANOMA	-	-	-	-	CPA1	NM_001868,p.E99K|ENST00000011292,p.E99K|uc003vpx.3,p.E99K	retained_intron, protein_coding	uc003vpx.3	nonsynonymous SNV	exon3	c.G295A	p.E99K	ETMIEDVQSLLDEEQEQMFAFRSRA	ETMIEDVQSLLDKEQEQMFAFRSRA	1.0	3.0	unscreened	-	3713_7:130021618-130021618 G>A_ETMIEDVQSLLDKEQEQMFAFRSRA
16:3819212-3819212 G>A	1.0	3713	MELANOMA	-	-	-	1	CREBBP	uc002cvw.3,p.P970L|NM_004380,p.P1008L|ENST00000262367,p.P1008L|ENST00000382070,p.P970L|NM_001079846,p.P970L|uc002cvv.3,p.P1008L	retained_intron, protein_coding	uc002cvw.3	nonsynonymous SNV	exon14	c.C2909T	p.P970L	EMKTETQAEDTEPDPGESKGEPRSE	EMKTETQAEDTELDPGESKGEPRSE	7.0	9.0	-	-	3713_16:3819212-3819212 G>A_EMKTETQAEDTELDPGESKGEPRSE
2:167094687-167094687 C>T	0.0	3713	MELANOMA	-	-	-	-	SCN9A	ENST00000409672,p.E1229K|ENST00000409435,p.E1240K|ENST00000303354,p.E1241K|uc010fpl.3,p.E1229K|NM_002977,p.E1229K|ENST00000375387,p.E1241K	retained_intron, protein_coding	uc010fpl.3	nonsynonymous SNV	exon20	c.G3685A	p.E1229K	YADKIFTYIFILEMLLKWIAYGYKT	YADKIFTYIFILKMLLKWIAYGYKT	1.0	5.0	unscreened	-	3713_2:167094687-167094687 C>T_YADKIFTYIFILKMLLKWIAYGYKT
19:16025578-16025578 G>A	1.0	3713	MELANOMA	-	-	-	-	CYP4F11	ENST00000402119,p.P415S|ENST00000248041,p.P415S|NM_021187,p.P415S|uc002nbt.2,p.P415S|uc002nbu.2,p.P415S|NM_001128932,p.P415S	retained_intron, protein_coding	uc002nbu.2	nonsynonymous SNV	exon10	c.C1243T	p.P415S	TQDFVLPDGRVIPKGIVCLINIIGI	TQDFVLPDGRVISKGIVCLINIIGI	1.0	4.0	-	-	3713_19:16025578-16025578 G>A_TQDFVLPDGRVISKGIVCLINIIGI
X:7243418-7243418 C>T	1.0	3713	MELANOMA	-	-	-	-	STS	NM_000351,p.P379S|ENST00000217961,p.P379S|uc004cry.4,p.P379S	protein_coding	uc004cry.4	nonsynonymous SNV	exon8	c.C1135T	p.P379S	GKANNWEGGIRVPGILRWPRVIQAG	GKANNWEGGIRVSGILRWPRVIQAG	4.0	10.0	-	-	3713_X:7243418-7243418 C>T_GKANNWEGGIRVSGILRWPRVIQAG
18:66678171-66678171 G>A	0.0	3713	MELANOMA	-	-	-	-	CCDC102B	ENST00000360242,p.E422K|ENST00000584156,p.E422K|uc002lkk.2,p.E422K|uc002lki.2,p.E422K|NM_001093729,p.E422K|ENST00000319445,p.E422K|NM_024781,p.E422K	retained_intron, protein_coding, processed_transcript	uc002lkk.2	nonsynonymous SNV	exon9	c.G1264A	p.E422K	KMSQIDLQEKNQELLNLQHAYYKLN	KMSQIDLQEKNQKLLNLQHAYYKLN	4.0	7.0	unscreened	-	3713_18:66678171-66678171 G>A_KMSQIDLQEKNQKLLNLQHAYYKLN
1:202128505-202128505 G>A	0.0	3713	MELANOMA	-	-	-	-	PTPN7	ENST00000367279,p.S48F|NM_080588,p.S48F|NM_001199797,p.S83F|uc001gxn.3,p.S114F|uc010ppx.2,p.S83F|uc001gxm.2,p.S114F|uc001gxl.2,p.S48F|ENST00000477554,p.S90F|ENST00000309017,p.S114F|NM_002832,p.S114F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ppx.2	nonsynonymous SNV	exon2	c.C248T	p.S83F	PHLSMVQAHGGRSRAQPLTLSLGAA	PHLSMVQAHGGRFRAQPLTLSLGAA	6.0	5.0	unscreened	-	3713_1:202128505-202128505 G>A_PHLSMVQAHGGRFRAQPLTLSLGAA
18:73139442-73139442 C>T	0.0	3713	MELANOMA	-	-	-	-	SMIM21	uc002lma.1,p.G26E|ENST00000382638,p.G26E|ENST00000579022,p.G26E|uc010dqw.2,p.G26E|uc002lmb.2,p.G26E|NM_001037331,p.G26E|ENST00000584508,p.G26E	protein_coding	uc010dqw.2	nonsynonymous SNV	exon1	c.G77A	p.G26E	IAQLGTFKQDSAGMGRIFKGNLLQK	IAQLGTFKQDSAEMGRIFKGNLLQK	1.0	6.0	unscreened	-	3713_18:73139442-73139442 C>T_IAQLGTFKQDSAEMGRIFKGNLLQK
6:117677887-117677887 T>A	0.0	3713	MELANOMA	-	-	-	1	ROS1	ENST00000368508,p.K1349I|NM_002944,p.K1349I|ENST00000368507,p.K1344I|uc003pxp.1,p.K1349I	protein_coding	uc003pxp.1	nonsynonymous SNV	exon25	c.A4046T	p.K1349I	SGAMAIDTSNLEKPLIYFAKAQEIW	SGAMAIDTSNLEIPLIYFAKAQEIW	1.0	6.0	unscreened	-	3713_6:117677887-117677887 T>A_SGAMAIDTSNLEIPLIYFAKAQEIW
19:41383792-41383792 C>T	0.0	3713	MELANOMA	-	-	-	-	CYP2A7	uc002opo.3,p.G313D|NM_000764,p.G313D|ENST00000301146,p.G313D|ENST00000291764,p.G262D|uc002opm.3,p.G313D|NM_030589,p.G262D|uc002opn.3,p.G262D	retained_intron, protein_coding, nonsense_mediated_decay	uc002opo.3	nonsynonymous SNV	exon6	c.G938A	p.G313D	AGTETVSTTLRYGFLLLMKHPEVEA	AGTETVSTTLRYDFLLLMKHPEVEA	1.0	9.0	unscreened	-	3713_19:41383792-41383792 C>T_AGTETVSTTLRYDFLLLMKHPEVEA
12:1988168-1988168 G>A	0.0	3713	MELANOMA	-	-	-	-	CACNA2D4	uc009zdt.1,p.S421L|ENST00000382722,p.S533L|uc021qsx.1,p.S533L|ENST00000587995,p.S533L|ENST00000586184,p.S533L|ENST00000585708,p.S469L|ENST00000585732,p.S418L|ENST00000588077,p.S469L|ENST00000444595,p.S533L|NM_172364,p.S533L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qsx.1	nonsynonymous SNV	exon15	c.C1598T	p.S533L	TRSHGILLGVVGSDVALRELMKLAP	TRSHGILLGVVGLDVALRELMKLAP	3.0	6.0	unscreened	-	3713_12:1988168-1988168 G>A_TRSHGILLGVVGLDVALRELMKLAP
10:88988152-88988152 C>T	1.0	3713	MELANOMA	-	-	-	1	NUTM2A	ENST00000381707,p.P172L|uc001kek.3,p.P172L|ENST00000381689,p.P172L|NM_001099338,p.P172L	protein_coding	uc001kek.3	nonsynonymous SNV	exon2	c.C515T	p.P172L	AHGPLLVTAGAPPGGPLVLSTLPST	AHGPLLVTAGAPLGGPLVLSTLPST	3.0	1.0	unscreened	-	3713_10:88988152-88988152 C>T_AHGPLLVTAGAPLGGPLVLSTLPST
12:55886637-55886637 G>A	0.0	3713	MELANOMA	-	-	-	-	OR6C68	NM_001005519,p.S159N|ENST00000548615,p.S159N|ENST00000379662,p.S164N|uc031qhq.1,p.S159N	protein_coding	uc031qhq.1	nonsynonymous SNV	exon1	c.G476A	p.S159N	WMAALMIILPPLSLGFHLEFCDSNV	WMAALMIILPPLNLGFHLEFCDSNV	1.0	6.0	unscreened	-	3713_12:55886637-55886637 G>A_WMAALMIILPPLNLGFHLEFCDSNV
17:11522989-11522989 A>G	0.0	3713	MELANOMA	-	-	-	-	DNAH9	NM_001372,p.N414S|ENST00000262442,p.N414S|uc002gne.3,p.N414S|ENST00000454412,p.N414S	retained_intron, protein_coding, processed_transcript	uc002gne.3	nonsynonymous SNV	exon6	c.A1241G	p.N414S	SFFKQEFQDRRENLHTYFKENQEVK	SFFKQEFQDRRESLHTYFKENQEVK	1.0	10.0	unscreened	-	3713_17:11522989-11522989 A>G_SFFKQEFQDRRESLHTYFKENQEVK
14:79746864-79746864 C>T	0.0	3713	MELANOMA	-	-	-	-	NRXN3	uc001xur.5,p.S77F|ENST00000557594,p.S77F|ENST00000428277,p.S77F|NM_001272020,p.S77F|NM_001105250,p.S77F|ENST00000281127,p.S77F|NM_138970,p.S77F|uc010asw.4,p.S77F|uc001xuq.3,p.S77F|ENST00000555387,p.S77F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010asw.4	nonsynonymous SNV	exon1	c.C230T	p.S77F	HSVPISIYRSPVSLRGGHAGATYIF	HSVPISIYRSPVFLRGGHAGATYIF	1.0	3.0	unscreened	-	3713_14:79746864-79746864 C>T_HSVPISIYRSPVFLRGGHAGATYIF
5:64587295-64587295 G>A	1.0	3713	MELANOMA	-	-	-	-	ADAMTS6	uc003jto.4,p.S14L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jto.4	nonsynonymous SNV	exon11	c.C41T	p.S14L	PASDVFRRRLCSSGRGTCLDNEPPK	PASDVFRRRLCSLGRGTCLDNEPPK	2.0	7.0	unscreened	-	3713_5:64587295-64587295 G>A_PASDVFRRRLCSLGRGTCLDNEPPK
2:108482763-108482763 C>T	0.0	3713	MELANOMA	-	-	-	-	RGPD4	ENST00000408999,p.H863Y|uc002tdu.3,p.H50Y|uc010ywk.2,p.H863Y|NM_182588,p.H863Y|ENST00000354986,p.H863Y	protein_coding	uc010ywk.2	nonsynonymous SNV	exon18	c.C2587T	p.H863Y	SVPDGYQGSQTFHGAPLTVATTGPS	SVPDGYQGSQTFYGAPLTVATTGPS	1.0	3.0	unscreened	-	3713_2:108482763-108482763 C>T_SVPDGYQGSQTFYGAPLTVATTGPS
X:114424647-114424647 C>T	0.0	3713	MELANOMA	-	-	-	-	RBMXL3	NM_001145346,p.R215C|uc011mte.1,p.R215C|ENST00000424776,p.R215C	protein_coding	uc011mte.1	nonsynonymous SNV	exon1	c.C643T	p.R215C	PHKRAVPRSSLARIGGSGMPGKAPA	PHKRAVPRSSLACIGGSGMPGKAPA	1.0	10.0	unscreened	-	3713_X:114424647-114424647 C>T_PHKRAVPRSSLACIGGSGMPGKAPA
9:125941304-125941304 G>A	1.0	3713	MELANOMA	-	-	-	-	STRBP	ENST00000360998,p.A55V|uc004bns.3,p.A69V|NM_018387,p.A69V|uc004bnu.3,p.A55V|uc004bnv.3,p.A69V|NM_001171137,p.A55V|ENST00000348403,p.A69V|ENST00000447404,p.A69V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004bnv.3	nonsynonymous SNV	exon3	c.C206T	p.A69V	KTEGETEVKKDEAGENYSKDQGGRT	KTEGETEVKKDEVGENYSKDQGGRT	4.0	2.0	-	-	3713_9:125941304-125941304 G>A_KTEGETEVKKDEVGENYSKDQGGRT
2:220149680-220149680 G>A	1.0	3713	MELANOMA	-	-	-	-	DNAJB2	uc010zlb.1,p.E132K|ENST00000336576,p.E316K|uc002vkx.1,p.E316K|NM_006736,p.E316K	retained_intron, protein_coding, processed_transcript	uc010zlb.1	nonsynonymous SNV	exon4	c.G394A	p.E132K	RGEATKRSPSPEEKASRCLIL	RGEATKRSPSPEKKASRCLIL	9.0	10.0	-	-	3713_2:220149680-220149680 G>A_RGEATKRSPSPEKKASRCLIL
11:22381033-22381033 G>A	0.0	3713	MELANOMA	-	-	-	-	SLC17A6	uc001mqk.3,p.G178E|ENST00000263160,p.G178E|NM_020346,p.G178E	retained_intron, protein_coding	uc001mqk.3	nonsynonymous SNV	exon4	c.G533A	p.G178E	NMLIPSAARVHYGCVIFVRILQGLV	NMLIPSAARVHYECVIFVRILQGLV	1.0	3.0	unscreened	-	3713_11:22381033-22381033 G>A_NMLIPSAARVHYECVIFVRILQGLV
2:231086426-231086426 C>T	0.0	3713	MELANOMA	-	-	-	-	SP110	uc021vxx.1,p.G4D|ENST00000540870,p.G4D|NM_001185015,p.G4D	retained_intron, protein_coding, processed_transcript	uc021vxx.1	nonsynonymous SNV	exon2	c.G11A	p.G4D	MGRGFRMFTMTRAMEE	MGRDFRMFTMTRAMEE	9.0	9.0	unscreened	-	3713_2:231086426-231086426 C>T_MGRDFRMFTMTRAMEE
11:17613094-17613094 C>T	0.0	3713	MELANOMA	-	-	-	-	OTOG	uc031pzc.1,p.P1001S|NM_001292063,p.P989S|NM_001277269,p.P1001S|ENST00000399391,p.P1001S|ENST00000399397,p.P928S	retained_intron, protein_coding, processed_transcript	uc031pzc.1	nonsynonymous SNV	exon24	c.C3001T	p.P1001S	YGDRHYRTFDGLPFDFVGACKVHLV	YGDRHYRTFDGLSFDFVGACKVHLV	1.0	10.0	unscreened	-	3713_11:17613094-17613094 C>T_YGDRHYRTFDGLSFDFVGACKVHLV
20:40979329-40979329 C>T	0.0	3713	MELANOMA	-	-	-	1	PTPRT	ENST00000373193,p.E602K|ENST00000373184,p.E602K|ENST00000373198,p.E602K|ENST00000373187,p.E602K|NM_007050,p.E602K|uc010ggj.3,p.E602K|ENST00000373190,p.E602K|ENST00000373201,p.E602K|ENST00000356100,p.E602K|NM_133170,p.E602K|uc002xkg.3,p.E602K	protein_coding, processed_transcript	uc010ggj.3	nonsynonymous SNV	exon11	c.G1804A	p.E602K	SMPEYDTDTPLNETDTTITVMLKPA	SMPEYDTDTPLNKTDTTITVMLKPA	1.0	6.0	unscreened	-	3713_20:40979329-40979329 C>T_SMPEYDTDTPLNKTDTTITVMLKPA
14:20502694-20502694 G>A	0.0	3713	MELANOMA	-	-	-	-	OR4K13	uc010tkz.2,p.S75F|NM_001004714,p.S75F|ENST00000315693,p.S75F	protein_coding	uc010tkz.2	nonsynonymous SNV	exon1	c.C224T	p.S75F	LSNLSCIDMILASFATPKMIVDFLR	LSNLSCIDMILAFFATPKMIVDFLR	1.0	6.0	unscreened	-	3713_14:20502694-20502694 G>A_LSNLSCIDMILAFFATPKMIVDFLR
X:37027300-37027300 G>A	0.0	3713	MELANOMA	-	-	-	2	FAM47C	ENST00000358047,p.E273K|NM_001013736,p.E273K|uc004ddl.2,p.E273K	protein_coding	uc004ddl.2	nonsynonymous SNV	exon1	c.G817A	p.E273K	EPPETGVSHLYLEPPGTGVSHLCPE	EPPETGVSHLYLKPPGTGVSHLCPE	1.0	10.0	unscreened	-	3713_X:37027300-37027300 G>A_EPPETGVSHLYLKPPGTGVSHLCPE
11:78482096-78482096 C>T	0.0	3713	MELANOMA	-	-	-	-	TENM4	uc001ozl.4,p.G827E|ENST00000278550,p.G827E|NM_001098816,p.G827E	retained_intron, protein_coding, processed_transcript	uc001ozl.4	nonsynonymous SNV	exon18	c.G2480A	p.G827E	NGWHCVCQLGWRGAGCDTSMETACG	NGWHCVCQLGWREAGCDTSMETACG	3.0	1.0	unscreened	-	3713_11:78482096-78482096 C>T_NGWHCVCQLGWREAGCDTSMETACG
4:47953416-47953416 C>T	0.0	3713	MELANOMA	-	-	-	-	CNGA1	ENST00000514520,p.G64S|ENST00000402813,p.G133S|ENST00000513178,p.G64S|uc003gxv.1,p.G64S|ENST00000544810,p.G64S|uc003gxu.3,p.G133S|NM_001142564,p.G133S|NM_000087,p.G64S|ENST00000514170,p.G64S|ENST00000504722,p.G64S|ENST00000420489,p.G64S|ENST00000358519,p.G64S|uc003gxt.4,p.G64S	retained_intron, protein_coding	uc003gxv.1	nonsynonymous SNV	exon5	c.G190A	p.G64S	SEESENENPHARGSFSYKSLRKGGP	SEESENENPHARSSFSYKSLRKGGP	1.0	5.0	unscreened	-	3713_4:47953416-47953416 C>T_SEESENENPHARSSFSYKSLRKGGP
7:137374711-137374711 G>A	0.0	3713	MELANOMA	-	-	-	-	DGKI	uc003vtt.3,p.P147S|ENST00000424189,p.P147S|ENST00000446122,p.P147S|NM_004717,p.P147S|ENST00000288490,p.P147S	retained_intron, protein_coding, processed_transcript	uc003vtt.3	nonsynonymous SNV	exon2	c.C439T	p.P147S	KAISRAGLQHLAPAHPLSLPVANGP	KAISRAGLQHLASAHPLSLPVANGP	1.0	4.0	unscreened	-	3713_7:137374711-137374711 G>A_KAISRAGLQHLASAHPLSLPVANGP
6:76715217-76715217 A>C	0.0	3713	MELANOMA	-	-	-	-	IMPG1	ENST00000369950,p.F308V|NM_001563,p.F308V|NM_001282368,p.F230V|uc003pik.1,p.F308V	protein_coding	uc003pik.1	nonsynonymous SNV	exon10	c.T922G	p.F308V	GSSSTEMQLTAIFKRHSAEAKSPAS	GSSSTEMQLTAIVKRHSAEAKSPAS	1.0	2.0	unscreened	-	3713_6:76715217-76715217 A>C_GSSSTEMQLTAIVKRHSAEAKSPAS
11:31123812-31123812 C>T	0.0	3713	MELANOMA	-	-	-	-	DCDC5,DCDC1	uc009yjl.1,p.G8E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009yjl.1	nonsynonymous SNV	exon5	c.G23A	p.G8E	MCWEVCEGFPINFNCTSQQI	MCWEVCEEFPINFNCTSQQI	1.0	8.0	unscreened	-	3713_11:31123812-31123812 C>T_MCWEVCEEFPINFNCTSQQI
3:4747986-4747986 C>T	1.0	3713	MELANOMA	-	-	-	-	ITPR1	uc003bqc.3,p.S1583F|ENST00000354582,p.S1598F|ENST00000456211,p.S1574F|ENST00000423119,p.S1589F|ENST00000443694,p.S1583F|ENST00000357086,p.S1589F|NM_001099952,p.S1589F|uc021wsj.1,p.S1574F|uc021wsi.1,p.S1589F|NM_001168272,p.S1583F|NM_002222,p.S1574F|ENST00000302640,p.S1583F	retained_intron, protein_coding, processed_transcript	uc021wsj.1	nonsynonymous SNV	exon36	c.C4721T	p.S1574F	WRLSARNAARRDSVLAASRDYRNII	WRLSARNAARRDFVLAASRDYRNII	4.0	4.0	unscreened	-	3713_3:4747986-4747986 C>T_WRLSARNAARRDFVLAASRDYRNII
17:8046619-8046619 G>A	1.0	3713	MELANOMA	-	-	-	1	PER1	NM_002616,p.P1013S|uc002gkd.3,p.P1013S|ENST00000581082,p.P990S|ENST00000317276,p.P1013S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gkd.3	nonsynonymous SNV	exon19	c.C3037T	p.P1013S	AGGPGSSAGPPPPSAEAAEPEARLA	AGGPGSSAGPPPSSAEAAEPEARLA	10.0	1.0	unscreened	-	3713_17:8046619-8046619 G>A_AGGPGSSAGPPPSSAEAAEPEARLA
5:140724589-140724589 G>A	1.0	3713	MELANOMA	-	-	-	-	PCDHGA3	NM_032011,p.R330K|NM_018916,p.R330K|uc003ljm.2,p.R330K|uc011dap.2,p.R330K|ENST00000253812,p.R330K	protein_coding	uc011dap.2	nonsynonymous SNV	exon1	c.G989A	p.R330K	KIEAQDGPGLLSRAKILVTVLDVND	KIEAQDGPGLLSKAKILVTVLDVND	3.0	6.0	-	-	3713_5:140724589-140724589 G>A_KIEAQDGPGLLSKAKILVTVLDVND
14:21052565-21052565 C>T	0.0	3713	MELANOMA	-	-	-	-	RNASE11	ENST00000557503,p.M23I|ENST00000432835,p.M23I|ENST00000553849,p.M23I|ENST00000398009,p.M23I|uc010ahv.3,p.M23I|ENST00000557105,p.M23I|ENST00000413502,p.M23I|ENST00000443456,p.M23I|NM_145250,p.M23I|ENST00000555841,p.M23I|ENST00000398008,p.M23I|uc010ahx.3,p.M23I|ENST00000335950,p.M23I|uc021rnu.1,p.M23I|uc010ahw.3,p.M23I|uc001vxs.3,p.M23I|ENST00000554842,p.M23I	protein_coding	uc021rnu.1	nonsynonymous SNV	exon1	c.G69A	p.M23I	LGLVLAEASESTMKIIKEEFTDEEM	LGLVLAEASESTIKIIKEEFTDEEM	1.0	1.0	unscreened	-	3713_14:21052565-21052565 C>T_LGLVLAEASESTIKIIKEEFTDEEM
1:155450964-155450964 G>A	1.0	3713	MELANOMA	-	-	-	-	ASH1L	ENST00000392403,p.P566L|NM_018489,p.P566L|ENST00000368346,p.P566L|uc009wqr.1,p.P566L|uc001fkt.3,p.P566L|uc009wqq.3,p.P566L	retained_intron, protein_coding, nonsense_mediated_decay	uc009wqr.1	nonsynonymous SNV	exon4	c.C1697T	p.P566L	NLPSPSPTVSVNPLTRSPPETSSQL	NLPSPSPTVSVNLLTRSPPETSSQL	6.0	5.0	unscreened	-	3713_1:155450964-155450964 G>A_NLPSPSPTVSVNLLTRSPPETSSQL
14:73729381-73729381 C>T	1.0	3713	MELANOMA	-	-	-	-	PAPLN	ENST00000554301,p.L857F|ENST00000557061,p.L155F|ENST00000381166,p.L857F|ENST00000555445,p.L841F|uc001xnw.4,p.L830F|ENST00000555123,p.L830F|uc010ttx.2,p.L857F|ENST00000427855,p.L857F|ENST00000340738,p.L830F|uc010arn.3,p.L57F|uc010tty.2,p.L841F|NM_173462,p.L830F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tty.2	nonsynonymous SNV	exon18	c.C2521T	p.L841F	AAVQRKPWPSGGLWRQDQQPGPGEA	AAVQRKPWPSGGFWRQDQQPGPGEA	6.0	1.0	unscreened	-	3713_14:73729381-73729381 C>T_AAVQRKPWPSGGFWRQDQQPGPGEA
9:125941304-125941304 G>A	1.0	3713	MELANOMA	-	-	-	-	STRBP	ENST00000407982,p.A69V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000407982	nonsynonymous SNV	exon3	c.C206T	p.A69V	KTEGETEVKKDEAGENYSKWSDIVW	KTEGETEVKKDEVGENYSKWSDIVW	4.0	2.0	unscreened	-	3713_9:125941304-125941304 G>A_KTEGETEVKKDEVGENYSKWSDIVW
12:82147871-82147871 G>A	0.0	3713	MELANOMA	-	-	-	-	PPFIA2	NM_001220474,p.R44C|uc031qiw.1,p.R44C|NM_001220476,p.R44C|uc031qip.1,p.R44C|ENST00000552948,p.R44C|uc031qix.1,p.R44C|NM_001220473,p.R44C|uc031qim.1,p.R44C|ENST00000551442,p.R44C|ENST00000549396,p.R44C|uc031qir.1,p.R44C|NM_003625,p.R44C|ENST00000549325,p.R44C|NM_001220475,p.R44C|uc031qis.1,p.R44C|uc031qiy.1,p.R44C|uc031qin.1,p.R44C|uc031qiq.1,p.R44C|ENST00000333447,p.R44C|ENST00000547623,p.R44C|ENST00000548586,p.R44C|ENST00000550584,p.R44C|uc031qio.1,p.R44C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qiy.1	nonsynonymous SNV	exon1	c.C130T	p.R44C	EQLMVNMLDERDRLLDTLRETQESL	EQLMVNMLDERDCLLDTLRETQESL	1.0	9.0	unscreened	-	3713_12:82147871-82147871 G>A_EQLMVNMLDERDCLLDTLRETQESL
12:52788871-52788871 G>A	0.0	3713	MELANOMA	-	-	-	-	KRT82	NM_033033,p.T477I|ENST00000257974,p.T477I|uc001sai.1,p.T477I	protein_coding	uc001sai.1	nonsynonymous SNV	exon9	c.C1430T	p.T477I	VLRSNGGCSIVGTGELYVPCEPQGL	VLRSNGGCSIVGIGELYVPCEPQGL	1.0	5.0	unscreened	-	3713_12:52788871-52788871 G>A_VLRSNGGCSIVGIGELYVPCEPQGL
2:179606565-179606565 C>T	0.0	3713	MELANOMA	-	-	ID=COSM21079;OCCURENCE=1(skin)	-	TTN	NM_001267550,p.E3799K|ENST00000342175,p.E3628K|NM_001256850,p.E3482K|uc031rqd.1,p.E3482K|NM_003319,p.E3436K|NM_133437,p.E3628K|ENST00000359218,p.E3561K|uc021vta.2,p.E3561K|ENST00000460472,p.E3436K|uc021vtb.2,p.E3436K|ENST00000591111,p.E3482K|NM_133432,p.E3561K|uc031rqc.1,p.E3799K|uc021vsz.2,p.E3628K|ENST00000589042,p.E3799K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon46	c.G10444A	p.E3482K	AELQLSKINETLELLSESPVYPTKF	AELQLSKINETLKLLSESPVYPTKF	1.0	10.0	unscreened	-	3713_2:179606565-179606565 C>T_AELQLSKINETLKLLSESPVYPTKF
7:141864657-141864657 A>C	0.0	3713	MELANOMA	-	-	-	-	LOC93432	NM_001293626,p.N829T|ENST00000477922,p.N829T	retained_intron, protein_coding	NM_001293626	nonsynonymous SNV	exon24	c.A2486C	p.N829T	KKYILYDFSVTSNHLQAKIINNNYM	KKYILYDFSVTSTHLQAKIINNNYM	1.0	5.0	unscreened	-	3713_7:141864657-141864657 A>C_KKYILYDFSVTSTHLQAKIINNNYM
7:128482396-128482396 G>A	1.0	3713	MELANOMA	-	-	-	-	FLNC	uc003voa.4,p.G745R|uc003vnz.4,p.G745R|ENST00000325888,p.G745R|ENST00000346177,p.G745R|NM_001458,p.G745R|NM_001127487,p.G745R	retained_intron, protein_coding	uc003voa.4	nonsynonymous SNV	exon14	c.G2233A	p.G745R	TKPIKHTIIISWGGVNVPKSPFRVN	TKPIKHTIIISWRGVNVPKSPFRVN	1.0	10.0	-	-	3713_7:128482396-128482396 G>A_TKPIKHTIIISWRGVNVPKSPFRVN
13:32826078-32826078 A>G	0.0	3713	MELANOMA	-	-	-	-	FRY	ENST00000380250,p.K2412E|NM_023037,p.K2412E|uc010tdw.3,p.K1138E|uc001utx.3,p.K2412E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tdw.3	nonsynonymous SNV	exon50	c.A3412G	p.K1138E	VLSLCGQEVGLSKNPSVIFSSCGDL	VLSLCGQEVGLSENPSVIFSSCGDL	1.0	3.0	unscreened	-	3713_13:32826078-32826078 A>G_VLSLCGQEVGLSENPSVIFSSCGDL
11:121448013-121448013 G>A	0.0	3713	MELANOMA	-	-	-	-	SORL1	ENST00000534286,p.E72K	retained_intron, protein_coding, processed_transcript	ENST00000534286	nonsynonymous SNV	exon2	c.G214A	p.E72K	LLSREMHQCRSDEYNCSSGMCIRSS	LLSREMHQCRSDKYNCSSGMCIRSS	5.0	10.0	unscreened	-	3713_11:121448013-121448013 G>A_LLSREMHQCRSDKYNCSSGMCIRSS
4:36148921-36148921 C>T	0.0	3713	MELANOMA	-	-	-	-	ARAP2	uc003gsq.2,p.G1087E|ENST00000303965,p.G1087E|NM_015230,p.G1087E	retained_intron, protein_coding, processed_transcript	uc003gsq.2	nonsynonymous SNV	exon19	c.G3260A	p.G1087E	GEKLDVLLLVEKGRTLYIHGHTKLD	GEKLDVLLLVEKERTLYIHGHTKLD	4.0	10.0	unscreened	-	3713_4:36148921-36148921 C>T_GEKLDVLLLVEKERTLYIHGHTKLD
4:167021919-167021919 G>A	0.0	3713	MELANOMA	-	-	-	-	TLL1	uc011cjn.2,p.G1001E|NM_012464,p.G978E|uc003irh.2,p.G978E|ENST00000507499,p.G1001E|uc011cjo.2,p.G802E|ENST00000061240,p.G978E	protein_coding, nonsense_mediated_decay	uc011cjo.2	nonsynonymous SNV	exon21	c.G2405A	p.G802E	CGSGPPEEIYSIGDSVLIHFHTDDT	CGSGPPEEIYSIEDSVLIHFHTDDT	1.0	3.0	unscreened	-	3713_4:167021919-167021919 G>A_CGSGPPEEIYSIEDSVLIHFHTDDT
7:132193224-132193224 C>T	0.0	3713	MELANOMA	-	-	-	-	PLXNA4	uc003vrb.3,p.D77N|NM_020911,p.D77N|uc003vra.4,p.D77N|ENST00000423507,p.D77N|uc003vrc.2,p.D77N|ENST00000378539,p.D77N|ENST00000359827,p.D77N|ENST00000321063,p.D77N|NM_001105543,p.D77N|NM_181775,p.D77N	retained_intron, protein_coding	uc003vrc.2	nonsynonymous SNV	exon2	c.G229A	p.D77N	LGAVNRIYKLSSDLKVLVTHETGPD	LGAVNRIYKLSSNLKVLVTHETGPD	1.0	1.0	unscreened	-	3713_7:132193224-132193224 C>T_LGAVNRIYKLSSNLKVLVTHETGPD
2:186673300-186673300 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1207612,COSM1207611;OCCURENCE=1(large_intestine)	-	FSIP2	uc002upl.3,p.D6512N|NM_173651,p.D6512N|ENST00000424728,p.D6423N|ENST00000343098,p.D6512N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon17	c.G19534A	p.D6512N	NPENTERIYQVVDSVYSNILQQSGT	NPENTERIYQVVNSVYSNILQQSGT	1.0	4.0	unscreened	-	3713_2:186673300-186673300 G>A_NPENTERIYQVVNSVYSNILQQSGT
20:33330230-33330230 G>A	1.0	3713	MELANOMA	-	-	-	-	NCOA6	uc002xav.3,p.P1277L|uc002xaw.3,p.P1277L|ENST00000374796,p.P1277L|ENST00000359003,p.P1277L|uc021wce.1,p.P1277L|NM_014071,p.P1277L	retained_intron, protein_coding, processed_transcript	uc021wce.1	nonsynonymous SNV	exon9	c.C3830T	p.P1277L	NLNRGFDQQGLNPTTLKAIGQAPSN	NLNRGFDQQGLNLTTLKAIGQAPSN	7.0	4.0	-	-	3713_20:33330230-33330230 G>A_NLNRGFDQQGLNLTTLKAIGQAPSN
3:49927923-49927923 C>T	0.0	3713	MELANOMA	-	-	-	-	MST1R	uc011bdc.2,p.D1220N|uc003cxy.4,p.D1269N|NM_001244937,p.D1220N|ENST00000344206,p.D1220N|ENST00000296474,p.D1269N|uc031rzw.1,p.D1163N|NM_002447,p.D1269N	retained_intron, protein_coding, nonsense_mediated_decay	uc031rzw.1	nonsynonymous SNV	exon16	c.G3487A	p.D1163N	ESLQTYRFTTKSDVWSFGVLLWELL	ESLQTYRFTTKSNVWSFGVLLWELL	3.0	2.0	unscreened	-	3713_3:49927923-49927923 C>T_ESLQTYRFTTKSNVWSFGVLLWELL
12:56397532-56397532 G>A	1.0	3713	MELANOMA	-	-	-	-	SUOX	ENST00000550065,p.G120E|ENST00000548274,p.G120E|ENST00000394109,p.G120E|uc001siz.3,p.G120E|ENST00000546833,p.G120E|NM_000456,p.G120E|uc001six.3,p.G120E|ENST00000394115,p.G120E|ENST00000266971,p.G120E|uc001sja.3,p.G120E|ENST00000356124,p.G120E|NM_001032386,p.G120E|NM_001032387,p.G120E|uc001siy.3,p.G120E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sja.3	nonsynonymous SNV	exon3	c.G359A	p.G120E	VFDVTEFVDLHPGGPSKLMLAAGGP	VFDVTEFVDLHPEGPSKLMLAAGGP	7.0	9.0	-	-	3713_12:56397532-56397532 G>A_VFDVTEFVDLHPEGPSKLMLAAGGP
17:62856828-62856828 T>C	0.0	3713	MELANOMA	-	-	-	-	LRRC37A3	uc010wqf.1,p.T184A|NM_199340,p.T1146A|uc031rdq.1,p.T1095A|uc002jex.1,p.T123A|ENST00000584306,p.T1146A|uc031rdn.1,p.T152A|ENST00000334962,p.T123A|uc010dek.2,p.T1071A|uc031rdo.1,p.T184A|ENST00000339474,p.T264A|ENST00000319651,p.T1146A|uc031rea.1,p.T1122A|uc031reb.1,p.T1097A|ENST00000400877,p.T184A|uc031rdu.1,p.T1022A|uc010wqg.1,p.T264A|uc002jey.2,p.T1146A|uc031rdz.1,p.T1122A|uc031rdx.1,p.T1152A	protein_coding, processed_transcript	uc031reb.1	nonsynonymous SNV	exon7	c.A3289G	p.T1097A	VKSLLLPFIKLPTTGNSLAKIQTVG	VKSLLLPFIKLPATGNSLAKIQTVG	4.0	1.0	unscreened	-	3713_17:62856828-62856828 T>C_VKSLLLPFIKLPATGNSLAKIQTVG
1:201170931-201170931 G>A	1.0	3713	MELANOMA	-	-	-	-	IGFN1	ENST00000437879,p.D240N|ENST00000335211,p.D240N|uc001gwc.3,p.D240N|ENST00000451870,p.D240N|NM_001164586,p.D240N	retained_intron, protein_coding, nonsense_mediated_decay	uc001gwc.3	nonsynonymous SNV	exon9	c.G718A	p.D240N	GNAKFDLELDLKDSQSKIYLYKDGE	GNAKFDLELDLKNSQSKIYLYKDGE	1.0	9.0	-	-	3713_1:201170931-201170931 G>A_GNAKFDLELDLKNSQSKIYLYKDGE
3:42242525-42242525 A>G	1.0	3713	MELANOMA	-	-	-	-	TRAK1	ENST00000449246,p.E395G|NM_001265609,p.E395G|uc003cky.4,p.E469G|NM_001042646,p.E469G|ENST00000341421,p.E411G|uc003ckz.5,p.E395G|ENST00000427771,p.E187G|ENST00000396175,p.E411G|NM_014965,p.E411G|uc011azi.3,p.E469G|uc011azj.3,p.E395G|NM_001265610,p.E395G|NM_001265608,p.E469G|ENST00000327628,p.E469G|uc011azh.3,p.E469G|uc003cla.4,p.E411G	protein_coding, processed_transcript, nonsense_mediated_decay	uc011azj.3	nonsynonymous SNV	exon11	c.A1184G	p.E395G	VVLDNKTNSIILETEAADLGNDERS	VVLDNKTNSIILGTEAADLGNDERS	9.0	7.0	-	-	3713_3:42242525-42242525 A>G_VVLDNKTNSIILGTEAADLGNDERS
3:85984998-85984998 G>A	0.0	3713	MELANOMA	-	-	-	-	CADM2	uc021xba.1,p.G144E|NM_001167674,p.G252E|NM_001167675,p.G261E|NM_001256504,p.G144E|ENST00000407528,p.G252E|ENST00000383699,p.G261E|uc003dqm.2,p.G144E|uc003dqk.3,p.G261E|NM_153184,p.G254E|NM_001256502,p.G144E|ENST00000405615,p.G254E|NM_001256503,p.G144E|uc021xay.1,p.G144E|uc021xaz.1,p.G144E|uc003dqj.3,p.G252E|uc003dql.3,p.G254E|NM_001256505,p.G144E	protein_coding, processed_transcript	uc021xba.1	nonsynonymous SNV	exon6	c.G431A	p.G144E	EGQPLILTCESKGKPLPEPVLWTKD	EGQPLILTCESKEKPLPEPVLWTKD	1.0	3.0	unscreened	-	3713_3:85984998-85984998 G>A_EGQPLILTCESKEKPLPEPVLWTKD
15:90214721-90214721 G>A	1.0	3713	MELANOMA	-	-	-	-	PLIN1	uc002boh.2,p.P109S|ENST00000300055,p.P109S|uc010upx.1,p.P109S|NM_002666,p.P109S|NM_001145311,p.P109S|ENST00000430628,p.P109S	retained_intron, protein_coding	uc010upx.1	nonsynonymous SNV	exon4	c.C325T	p.P109S	HLEEKIPALQYPPEKIASELKDTIS	HLEEKIPALQYPSEKIASELKDTIS	1.0	8.0	unscreened	-	3713_15:90214721-90214721 G>A_HLEEKIPALQYPSEKIASELKDTIS
3:7620745-7620745 T>C	0.0	3713	MELANOMA	-	-	-	-	GRM7	ENST00000389336,p.F718L|ENST00000467425,p.F718L|uc010hch.1,p.F229L|NM_181874,p.F718L|ENST00000357716,p.F718L|uc003bqm.2,p.F718L|ENST00000486284,p.F718L|ENST00000402647,p.F718L|NM_000844,p.F718L|uc003bql.2,p.F718L|ENST00000440923,p.F718L|ENST00000403881,p.F718L|uc010hcg.2,p.F718L|uc003bqn.1,p.F301L|ENST00000389335,p.F718L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hch.1	nonsynonymous SNV	exon6	c.T685C	p.F229L	TSSLISVQLLGVFIWFGVDPPNIII	TSSLISVQLLGVLIWFGVDPPNIII	1.0	10.0	unscreened	-	3713_3:7620745-7620745 T>C_TSSLISVQLLGVLIWFGVDPPNIII
12:81051812-81051812 C>T	0.0	3713	MELANOMA	-	-	-	-	PTPRQ	ENST00000266688,p.S2051L	retained_intron, protein_coding, processed_transcript	ENST00000266688	nonsynonymous SNV	exon44	c.C6152T	p.S2051L	RVKLIADASVPGSDYINASYISGYL	RVKLIADASVPGLDYINASYISGYL	1.0	4.0	unscreened	-	3713_12:81051812-81051812 C>T_RVKLIADASVPGLDYINASYISGYL
6:138655580-138655580 C>T	1.0	3713	MELANOMA	-	-	-	-	KIAA1244	ENST00000251691,p.T1866I|NM_020340,p.T1866I|uc003qhu.3,p.T1866I	protein_coding	uc003qhu.3	nonsynonymous SNV	exon33	c.C5597T	p.T1866I	QCSSEDEDIFEETAQVSPPRGKEKR	QCSSEDEDIFEEIAQVSPPRGKEKR	1.0	6.0	unscreened	-	3713_6:138655580-138655580 C>T_QCSSEDEDIFEEIAQVSPPRGKEKR
1:233161005-233161005 C>T	0.0	3713	MELANOMA	-	-	-	-	PCNXL2	ENST00000344698,p.E150K|uc001hvl.2,p.E1498K|uc001hvk.1,p.E150K|NM_014801,p.E1498K|ENST00000258229,p.E1498K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001hvl.2	nonsynonymous SNV	exon26	c.G4492A	p.E1498K	CNAAFHLRWLTWEITQTQYILEGYS	CNAAFHLRWLTWKITQTQYILEGYS	3.0	1.0	-	-	3713_1:233161005-233161005 C>T_CNAAFHLRWLTWKITQTQYILEGYS
6:15487700-15487700 C>T	1.0	3713	MELANOMA	-	-	-	-	JARID2	ENST00000341776,p.S278F|ENST00000397311,p.S106F|NM_004973,p.S278F|uc011div.3,p.S106F|uc011diw.1,p.S240F|uc011diu.1,p.S142F|NM_001267040,p.S106F|ENST00000541660,p.S240F|uc003nbj.4,p.S278F	protein_coding, processed_transcript	uc011diw.1	nonsynonymous SNV	exon5	c.C719T	p.S240F	SANHPAAAPSTGSSAKGLAATHHHP	SANHPAAAPSTGFSAKGLAATHHHP	6.0	2.0	-	-	3713_6:15487700-15487700 C>T_SANHPAAAPSTGFSAKGLAATHHHP
9:101787211-101787211 G>A	1.0	3713	MELANOMA	-	-	-	-	COL15A1	NM_001855,p.G637E|uc004azb.2,p.G637E|ENST00000375001,p.G637E	retained_intron, protein_coding, processed_transcript	uc004azb.2	nonsynonymous SNV	exon15	c.G1910A	p.G637E	GPPGLPGIPGKPGTDVFMGPPGSPG	GPPGLPGIPGKPETDVFMGPPGSPG	4.0	10.0	unscreened	-	3713_9:101787211-101787211 G>A_GPPGLPGIPGKPETDVFMGPPGSPG
1:23720394-23720394 A>G	0.0	3713	MELANOMA	-	-	-	-	TCEA3	NM_003196,p.L266P|ENST00000450454,p.L266P|uc009vqm.2,p.L35P|uc021oig.1,p.L266P	protein_coding, processed_transcript	uc021oig.1	nonsynonymous SNV	exon8	c.T797C	p.L266P	RRNVLSGAISAGLIAKMTAEEMASD	RRNVLSGAISAGPIAKMTAEEMASD	1.0	10.0	unscreened	-	3713_1:23720394-23720394 A>G_RRNVLSGAISAGPIAKMTAEEMASD
16:20335551-20335551 G>A	0.0	3713	MELANOMA	-	-	ID=COSM182687;OCCURENCE=4(large_intestine),1(endometrium)	-	GP2	uc002dgv.3,p.S41L|uc002dgw.3,p.S41L|NM_001502,p.S41L|NM_001007240,p.S41L|ENST00000575449,p.S41L|ENST00000381362,p.S41L|ENST00000302555,p.S41L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002dgw.3	nonsynonymous SNV	exon3	c.C122T	p.S41L	VQRGYGNPIEASSYGLDLDCGAPGT	VQRGYGNPIEASLYGLDLDCGAPGT	1.0	4.0	unscreened	-	3713_16:20335551-20335551 G>A_VQRGYGNPIEASLYGLDLDCGAPGT
3:195511205-195511205 G>A	0.0	3713	MELANOMA	-	-	-	2	MUC4	ENST00000462323,p.H2416Y|ENST00000470451,p.H2416Y|ENST00000479406,p.H2416Y|ENST00000478156,p.H2416Y|ENST00000466475,p.H2416Y|ENST00000480843,p.H2416Y|ENST00000477756,p.H2416Y|ENST00000475231,p.H2416Y|NM_018406,p.H2416Y|ENST00000463781,p.H2416Y|ENST00000477086,p.H2416Y|uc021xjp.1,p.H2416Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C7246T	p.H2416Y	TDTSSASTGHATHLPVTGLSSASTG	TDTSSASTGHATYLPVTGLSSASTG	1.0	1.0	unscreened	-	3713_3:195511205-195511205 G>A_TDTSSASTGHATYLPVTGLSSASTG
15:83790674-83790674 G>A	0.0	3713	MELANOMA	-	-	-	-	TM6SF1	ENST00000379386,p.E137K	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000379386	nonsynonymous SNV	exon5	c.G409A	p.E137K	VMVAAIAWDCYRETYRTIGLYWVGS	VMVAAIAWDCYRKTYRTIGLYWVGS	4.0	9.0	unscreened	-	3713_15:83790674-83790674 G>A_VMVAAIAWDCYRKTYRTIGLYWVGS
1:115418717-115418717 C>T	0.0	3713	MELANOMA	-	-	ID=COSM354037;OCCURENCE=1(lung)	-	SYCP1	uc001efr.3,p.R229C|uc001efq.3,p.R229C|NM_003176,p.R229C|uc009wgw.3,p.R229C|NM_001282541,p.R229C|ENST00000369518,p.R229C|NM_001282542,p.R229C|ENST00000455987,p.R229C|ENST00000369522,p.R229C	protein_coding, processed_transcript	uc009wgw.3	nonsynonymous SNV	exon10	c.C685T	p.R229C	NIEKMITAFEELRVQAENSRLEMHF	NIEKMITAFEELCVQAENSRLEMHF	1.0	10.0	unscreened	-	3713_1:115418717-115418717 C>T_NIEKMITAFEELCVQAENSRLEMHF
2:179605631-179605631 C>A	0.0	3713	MELANOMA	-	-	-	-	TTN	uc031rqd.1,p.G3793V|NM_001267550,p.G4110V|ENST00000342175,p.G3939V|uc021vsz.2,p.G3939V|uc031rqc.1,p.G4110V|NM_133432,p.G3872V|ENST00000591111,p.G3793V|ENST00000460472,p.G3747V|ENST00000589042,p.G4110V|NM_133437,p.G3939V|ENST00000359218,p.G3872V|NM_003319,p.G3747V|uc021vtb.2,p.G3747V|uc021vta.2,p.G3872V|NM_001256850,p.G3793V	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon46	c.G11378T	p.G3793V	AKANELSSQLPLGAQELQSILEQDK	AKANELSSQLPLVAQELQSILEQDK	1.0	8.0	unscreened	-	3713_2:179605631-179605631 C>A_AKANELSSQLPLVAQELQSILEQDK
19:22498571-22498571 G>A	0.0	3713	MELANOMA	-	-	-	-	ZNF729	NM_001242680,p.M784I|ENST00000357491,p.M784I|uc021urs.1,p.M784I|ENST00000601693,p.M784I	protein_coding	uc021urs.1	nonsynonymous SNV	exon4	c.G2352A	p.M784I	ECVKAFNSFSALMKHKVIHTGEKPY	ECVKAFNSFSALIKHKVIHTGEKPY	1.0	10.0	unscreened	-	3713_19:22498571-22498571 G>A_ECVKAFNSFSALIKHKVIHTGEKPY
19:24115937-24115937 C>T	0.0	3713	MELANOMA	-	-	-	-	ZNF726	ENST00000322487,p.P340L|NM_001244038,p.P340L|ENST00000594466,p.P340L|uc021urw.1,p.P340L	protein_coding	uc021urw.1	nonsynonymous SNV	exon4	c.C1019T	p.P340L	LTRHKRLHSGEKPYKCEECAKAFSQ	LTRHKRLHSGEKLYKCEECAKAFSQ	4.0	10.0	unscreened	-	3713_19:24115937-24115937 C>T_LTRHKRLHSGEKLYKCEECAKAFSQ
4:71115112-71115112 C>T	0.0	3713	MELANOMA	-	-	-	-	CSN3	NM_005212,p.S162L|ENST00000304954,p.S162L|uc003hfe.4,p.S162L	protein_coding	uc003hfe.4	nonsynonymous SNV	exon4	c.C485T	p.S162L	PTVDSVVTPEAFSESIITSTPETTT	PTVDSVVTPEAFLESIITSTPETTT	1.0	9.0	unscreened	-	3713_4:71115112-71115112 C>T_PTVDSVVTPEAFLESIITSTPETTT
9:15191205-15191205 C>T	0.0	3713	MELANOMA	-	-	-	-	TTC39B	uc011lmq.2,p.G327R|NM_001168341,p.G258R|ENST00000355694,p.G261R|uc011lmr.2,p.G258R|ENST00000507993,p.G162R|uc010mif.2,p.G327R|uc003zlr.2,p.G327R|uc010mie.2,p.G325R|NM_001168340,p.G327R|ENST00000507285,p.G162R|NM_152574,p.G327R|uc011lmp.2,p.G162R|ENST00000380850,p.G327R|ENST00000297615,p.G258R|NM_001168342,p.G162R|uc010mig.1,p.G230R|ENST00000512701,p.G327R|uc003zlq.2,p.G230R|NM_001168339,p.G325R|uc003zls.1,p.G162R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lmr.2	nonsynonymous SNV	exon8	c.G772A	p.G258R	LPARIIRLLEFIGFSGNRELGLLQL	LPARIIRLLEFIRFSGNRELGLLQL	4.0	8.0	unscreened	-	3713_9:15191205-15191205 C>T_LPARIIRLLEFIRFSGNRELGLLQL
19:55085836-55085836 C>T	0.0	3713	MELANOMA	-	-	-	-	LILRA2	ENST00000251377,p.L47F|uc010ern.3,p.L47F|NM_001290271,p.L47F|uc010yfg.1,p.L47F|uc002qgg.4,p.L47F|ENST00000391737,p.L35F|NM_001130917,p.L47F|ENST00000439534,p.L47F|ENST00000251376,p.L47F|uc002qgf.3,p.L47F|NM_001290270,p.L35F|NM_006866,p.L47F|uc010ero.3,p.L35F|uc010yfe.1,p.L47F|ENST00000391738,p.L47F|uc010yff.1,p.L35F	protein_coding, processed_transcript	uc010yfg.1	nonsynonymous SNV	exon3	c.C139T	p.L47F	PGSVIIQGSPVTLRCQGSLQAEEYH	PGSVIIQGSPVTFRCQGSLQAEEYH	1.0	10.0	unscreened	-	3713_19:55085836-55085836 C>T_PGSVIIQGSPVTFRCQGSLQAEEYH
6:52131456-52131456 G>A	1.0	3713	MELANOMA	-	-	-	-	MCM3	ENST00000229854,p.S704L|ENST00000419835,p.S658L|NM_002388,p.S749L|ENST00000421471,p.S199L|NM_001270472,p.S714L|ENST00000596288,p.S749L|uc011dwu.2,p.S714L|uc003pan.2,p.S749L	protein_coding, processed_transcript, nonsense_mediated_decay	uc011dwu.2	nonsynonymous SNV	exon14	c.C2141T	p.S714L	RKTRQPDAKDGDSYDPYDFSDTEEE	RKTRQPDAKDGDLYDPYDFSDTEEE	9.0	2.0	unscreened	-	3713_6:52131456-52131456 G>A_RKTRQPDAKDGDLYDPYDFSDTEEE
19:40317459-40317459 G>A	1.0	3713	MELANOMA	-	-	-	-	DYRK1B	NM_006484,p.P394S|ENST00000430012,p.P382S|ENST00000323039,p.P422S|ENST00000593685,p.P422S|uc002omj.3,p.P422S|ENST00000597639,p.P394S|NM_004714,p.P422S|ENST00000348817,p.P394S|uc002omi.3,p.P394S|NM_006483,p.P382S|uc002omk.3,p.P382S	retained_intron, protein_coding	uc002omk.3	nonsynonymous SNV	exon9	c.C1144T	p.P382S	RMLEYEPAARISPLGALQHGFFRRT	RMLEYEPAARISSLGALQHGFFRRT	4.0	3.0	unscreened	-	3713_19:40317459-40317459 G>A_RMLEYEPAARISSLGALQHGFFRRT
10:61973198-61973198 C>T	0.0	3713	MELANOMA	-	-	-	-	ANK3	NM_001204403,p.R317Q|ENST00000373827,p.R317Q|uc010qih.2,p.R306Q|uc001jky.3,p.R323Q|uc001jkz.4,p.R317Q|NM_020987,p.R323Q|ENST00000280772,p.R323Q|NM_001204404,p.R306Q|ENST00000503366,p.R306Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qih.2	nonsynonymous SNV	exon9	c.G917A	p.R306Q	SGHEQVVEMLLDRAAPILSKTKNGL	SGHEQVVEMLLDQAAPILSKTKNGL	4.0	9.0	unscreened	-	3713_10:61973198-61973198 C>T_SGHEQVVEMLLDQAAPILSKTKNGL
X:84537238-84537238 T>A	0.0	3713	MELANOMA	-	-	-	-	POF1B	uc004eer.2,p.I579F|ENST00000262753,p.I579F|NM_024921,p.I579F	protein_coding, nonsense_mediated_decay	uc004eer.2	nonsynonymous SNV	exon16	c.A1735T	p.I579F	YIPPGSETQTIVIEKTEDKYTCP	YIPPGSETQTIVFEKTEDKYTCP	1.0	10.0	unscreened	-	3713_X:84537238-84537238 T>A_YIPPGSETQTIVFEKTEDKYTCP
7:144072687-144072687 C>T	0.0	3713	MELANOMA	-	-	-	-	ARHGEF5	NM_005435,p.P1460L|uc003wel.3,p.P1460L|ENST00000471847,p.P382L|ENST00000056217,p.P1460L|uc003wek.3,p.P1460L	protein_coding	uc003wel.3	nonsynonymous SNV	exon12	c.C4379T	p.P1460L	IRGEKCEMKLHGPHKNLFRLFLRQN	IRGEKCEMKLHGLHKNLFRLFLRQN	1.0	3.0	unscreened	-	3713_7:144072687-144072687 C>T_IRGEKCEMKLHGLHKNLFRLFLRQN
19:9056614-9056614 C>T	0.0	3713	MELANOMA	-	-	-	2	MUC16	NM_024690,p.V10278M|uc002mkp.3,p.V10278M|ENST00000397910,p.V10278M	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.G30832A	p.V10278M	LLPSAETISTGTVMPSLSEAMTSFA	LLPSAETISTGTMMPSLSEAMTSFA	1.0	3.0	unscreened	-	3713_19:9056614-9056614 C>T_LLPSAETISTGTMMPSLSEAMTSFA
8:105261796-105261796 C>T	0.0	3713	MELANOMA	-	-	-	-	RIMS2	NM_001282881,p.P1063L|NM_001282882,p.P160L|uc003ylr.3,p.P1063L|uc003ylp.3,p.P1224L|uc003ylq.3,p.P1038L|ENST00000507740,p.P1038L|ENST00000406091,p.P1224L|ENST00000262231,p.P1063L|ENST00000339750,p.P160L|NM_001100117,p.P1224L|uc003ylw.2,p.P1231L|NM_014677,p.P1038L|uc003yls.3,p.P1242L|ENST00000408894,p.P1231L|ENST00000523362,p.P160L|ENST00000436393,p.P1242L	retained_intron, protein_coding, processed_transcript	uc003ylw.2	nonsynonymous SNV	exon25	c.C3692T	p.P1231L	VEIIRARGLVVKPGSKTLPAPYVKV	VEIIRARGLVVKLGSKTLPAPYVKV	1.0	1.0	unscreened	-	3713_8:105261796-105261796 C>T_VEIIRARGLVVKLGSKTLPAPYVKV
8:2806860-2806860 G>A	1.0	3713	MELANOMA	-	-	-	-	CSMD1	ENST00000520002,p.H3456Y|ENST00000602557,p.H3456Y|ENST00000542608,p.H3278Y|ENST00000537824,p.H3455Y|ENST00000400186,p.H3279Y|uc011kwj.2,p.H2770Y|ENST00000602723,p.H3279Y|uc010lrg.3,p.H1347Y|NM_033225,p.H3455Y|uc022aqr.1,p.H3455Y	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon68	c.C10363T	p.H3455Y	LERGGFTFQGDIHGKDFGKFKLERQ	LERGGFTFQGDIYGKDFGKFKLERQ	1.0	9.0	unscreened	-	3713_8:2806860-2806860 G>A_LERGGFTFQGDIYGKDFGKFKLERQ
19:40362835-40362835 C>T	0.0	3713	MELANOMA	-	-	-	-	FCGBP	uc002omp.4,p.D5079N|ENST00000221347,p.D5079N|NM_003890,p.D5079N	protein_coding, processed_transcript	uc002omp.4	nonsynonymous SNV	exon32	c.G15235A	p.D5079N	LSPSEYFRQCVYDLCAQKGDKAFLC	LSPSEYFRQCVYNLCAQKGDKAFLC	2.0	10.0	unscreened	-	3713_19:40362835-40362835 C>T_LSPSEYFRQCVYNLCAQKGDKAFLC
19:9000453-9000453 G>A	0.0	3713	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.L13511F|NM_024690,p.L13511F|ENST00000397910,p.L13511F|uc010dwj.3,p.L328F|ENST00000380951,p.L152F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dwj.3	nonsynonymous SNV	exon11	c.C982T	p.L328F	PGSRKFNTTERVLQGLLRPVFKNTS	PGSRKFNTTERVFQGLLRPVFKNTS	1.0	10.0	unscreened	-	3713_19:9000453-9000453 G>A_PGSRKFNTTERVFQGLLRPVFKNTS
19:56321360-56321360 C>T	0.0	3713	MELANOMA	-	-	-	-	NLRP11	NM_145007,p.D206N|uc010ygf.2,p.D206N|uc002qlz.3,p.D107N|ENST00000593244,p.D206N|ENST00000590409,p.D107N|ENST00000443188,p.D206N|NM_001297743,p.D107N|ENST00000589824,p.D206N|uc002qmb.3,p.D107N|ENST00000360133,p.D206N|ENST00000589093,p.D206N|ENST00000592953,p.D107N	protein_coding, nonsense_mediated_decay	uc010ygf.2	nonsynonymous SNV	exon5	c.G616A	p.D206N	MTNSSLAELIAKDWPDGQAPIADIL	MTNSSLAELIAKNWPDGQAPIADIL	1.0	10.0	unscreened	-	3713_19:56321360-56321360 C>T_MTNSSLAELIAKNWPDGQAPIADIL
7:148876325-148876325 C>T	1.0	3713	MELANOMA	-	-	-	-	ZNF398	ENST00000426851,p.P283L|ENST00000475153,p.P454L|NM_170686,p.P454L|ENST00000335901,p.P283L|ENST00000540950,p.P459L|ENST00000491174,p.P283L|ENST00000483892,p.P283L|uc011kum.2,p.P459L|NM_020781,p.P283L|ENST00000420008,p.P283L|uc011kul.2,p.P283L|uc003wfl.3,p.P454L	protein_coding, processed_transcript	uc011kum.2	nonsynonymous SNV	exon7	c.C1376T	p.P459L	LTSHRRAHASERPFRCAQCGRSFSL	LTSHRRAHASERLFRCAQCGRSFSL	5.0	7.0	unscreened	-	3713_7:148876325-148876325 C>T_LTSHRRAHASERLFRCAQCGRSFSL
14:80327878-80327878 G>A	1.0	3713	MELANOMA	-	-	-	-	NRXN3	ENST00000557594,p.M495I|uc001xuq.3,p.M495I|NM_001272020,p.M495I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xuq.3	nonsynonymous SNV	exon6	c.G1485A	p.M495I	SSGMVPKLPAGKMNNRDLKPQPDIV	SSGMVPKLPAGKINNRDLKPQPDIV	1.0	2.0	unscreened	-	3713_14:80327878-80327878 G>A_SSGMVPKLPAGKINNRDLKPQPDIV
11:7021542-7021542 G>A	1.0	3713	MELANOMA	-	-	-	-	ZNF214	uc009yfh.1,p.R458C|uc010ray.1,p.R458C|ENST00000536068,p.R458C|NM_013249,p.R458C|uc001mfa.2,p.R458C|ENST00000278314,p.R458C	protein_coding, processed_transcript	uc010ray.1	nonsynonymous SNV	exon4	c.C1372T	p.R458C	DCGKDFSHSSDLRIHQRVHTGEKPY	DCGKDFSHSSDLCIHQRVHTGEKPY	1.0	7.0	unscreened	-	3713_11:7021542-7021542 G>A_DCGKDFSHSSDLCIHQRVHTGEKPY
15:40675068-40675068 G>A	0.0	3713	MELANOMA	-	-	-	2	KNSTRN	ENST00000249776,p.R11K|uc010ucp.2,p.R11K|ENST00000448395,p.R11K|uc001zll.3,p.R11K|NM_033286,p.R11K|NM_001142762,p.R11K|ENST00000416151,p.R11K|ENST00000560981,p.R11K|uc001zlo.3,p.R11K|NM_001142761,p.R11K	retained_intron, protein_coding, nonsense_mediated_decay	uc010ucp.2	nonsynonymous SNV	exon1	c.G32A	p.R11K	MAAPEAPPLDRVFRTTWLSTECD	MAAPEAPPLDKVFRTTWLSTECD	6.0	8.0	unscreened	-	3713_15:40675068-40675068 G>A_MAAPEAPPLDKVFRTTWLSTECD
19:49713970-49713970 T>C	1.0	3713	MELANOMA	-	-	-	-	TRPM4	ENST00000252826,p.V1111A|NM_017636,p.V1111A|ENST00000355712,p.V757A|uc010yal.2,p.V757A|ENST00000427978,p.V966A|NM_001195227,p.V966A|uc002pmy.3,p.V453A|uc002pmx.3,p.V937A|uc010yak.2,p.V575A|uc010emu.3,p.V966A|uc002pmw.3,p.V1111A|uc010emv.3,p.V996A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yal.2	nonsynonymous SNV	exon17	c.T2270C	p.V757A	PQPSSPALEHFRVYLSKEAERKLLT	PQPSSPALEHFRAYLSKEAERKLLT	3.0	10.0	-	-	3713_19:49713970-49713970 T>C_PQPSSPALEHFRAYLSKEAERKLLT
16:28619830-28619830 G>C	0.0	3713	MELANOMA	-	-	-	-	SULT1A1	uc002dqn.3,p.F172L|uc002dqj.3,p.F81L|ENST00000395609,p.F81L|ENST00000569554,p.F81L|NM_177529,p.F81L|uc002dqk.3,p.F81L|ENST00000566189,p.F81L|NM_177534,p.F81L|ENST00000314752,p.F81L|uc002dql.3,p.F81L|ENST00000395607,p.F81L|uc002dqi.3,p.F81L|NM_177530,p.F81L|NM_001055,p.F81L|uc002dqp.3,p.F81L	retained_intron, protein_coding, nonsense_mediated_decay	uc002dqp.3	nonsynonymous SNV	exon5	c.C243G	p.F81L	KCHRAPIFMRVPFLEFKAPGIPSGM	KCHRAPIFMRVPLLEFKAPGIPSGM	3.0	2.0	unscreened	-	3713_16:28619830-28619830 G>C_KCHRAPIFMRVPLLEFKAPGIPSGM
5:55407299-55407299 G>A	1.0	3713	MELANOMA	-	-	-	-	ANKRD55	ENST00000434982,p.R138C|uc003jqt.3,p.R138C|ENST00000341048,p.R426C|NM_024669,p.R426C|uc003jqu.3,p.R426C|ENST00000504958,p.R383C	protein_coding, processed_transcript	uc003jqu.3	nonsynonymous SNV	exon10	c.C1276T	p.R426C	SKYLLPEKKPLARKGLPPIRTQSLP	SKYLLPEKKPLACKGLPPIRTQSLP	1.0	3.0	unscreened	-	3713_5:55407299-55407299 G>A_SKYLLPEKKPLACKGLPPIRTQSLP
6:30916917-30916917 C>T	0.0	3713	MELANOMA	-	-	-	-	DPCR1	ENST00000462446,p.P226S|uc003nsg.2,p.P226S|NM_080870,p.P226S	protein_coding	uc003nsg.2	nonsynonymous SNV	exon2	c.C676T	p.P226S	GNSQTKQKSTSFPEKITAASKTTYK	GNSQTKQKSTSFSEKITAASKTTYK	1.0	1.0	unscreened	-	3713_6:30916917-30916917 C>T_GNSQTKQKSTSFSEKITAASKTTYK
1:17405886-17405886 G>A	0.0	3713	MELANOMA	-	-	-	-	PADI2	NM_007365,p.R395W|uc001baf.3,p.R395W|ENST00000375481,p.R395W|ENST00000375486,p.R395W|uc010ocm.2,p.R279W|uc001bag.1,p.R395W|ENST00000444885,p.R279W	protein_coding, processed_transcript	uc010ocm.2	nonsynonymous SNV	exon8	c.C835T	p.R279W	KELLGPDFGYVTREPLFESVTSLDS	KELLGPDFGYVTWEPLFESVTSLDS	3.0	3.0	unscreened	-	3713_1:17405886-17405886 G>A_KELLGPDFGYVTWEPLFESVTSLDS
X:20031231-20031231 C>T	0.0	3713	MELANOMA	-	-	-	-	MAP7D2	ENST00000443379,p.G523E|NM_001168465,p.G609E|NM_001168466,p.G523E|ENST00000379643,p.G609E|uc004czr.2,p.G568E|ENST00000452324,p.G516E|uc011mjj.2,p.G523E|ENST00000379651,p.G568E|uc004czq.2,p.G453E|NM_152780,p.G568E|uc010nfo.2,p.G609E|uc011mji.2,p.G516E|NM_001168467,p.G516E|ENST00000543767,p.G453E	protein_coding, processed_transcript, nonsense_mediated_decay	uc011mjj.2	nonsynonymous SNV	exon12	c.G1568A	p.G523E	VSPQVKKEDPKVGVQPAVCVEKKTK	VSPQVKKEDPKVEVQPAVCVEKKTK	1.0	10.0	unscreened	-	3713_X:20031231-20031231 C>T_VSPQVKKEDPKVEVQPAVCVEKKTK
12:10962601-10962601 C>T	0.0	3713	MELANOMA	-	-	-	-	TAS2R9	uc001qyx.3,p.G25E|ENST00000240691,p.G25E|NM_023917,p.G25E	protein_coding	uc001qyx.3	nonsynonymous SNV	exon1	c.G74A	p.G25E	IAGELTIGIWGNGFIVLVNCIDWLK	IAGELTIGIWGNEFIVLVNCIDWLK	1.0	6.0	unscreened	-	3713_12:10962601-10962601 C>T_IAGELTIGIWGNEFIVLVNCIDWLK
9:38596061-38596061 G>T	0.0	3713	MELANOMA	-	-	-	-	ANKRD18A	NM_147195,p.L426M|ENST00000399703,p.L426M|uc004abg.4,p.L426M|uc004abf.1,p.L103M|uc010mme.3,p.L425M	protein_coding, processed_transcript, nonsense_mediated_decay	uc010mme.3	nonsynonymous SNV	exon9	c.C1273A	p.L425M	RLEAEVESLHSSLATAINEYNEIVE	RLEAEVESLHSSMATAINEYNEIVE	2.0	2.0	unscreened	-	3713_9:38596061-38596061 G>T_RLEAEVESLHSSMATAINEYNEIVE
7:141885813-141885813 C>T	0.0	3713	MELANOMA	-	-	-	-	LOC93432	ENST00000477922,p.P1338S|NM_001293626,p.P1338S	retained_intron, protein_coding	NM_001293626	nonsynonymous SNV	exon35	c.C4012T	p.P1338S	TQVKLYRAYVAFPDFFRNSTAAWWK	TQVKLYRAYVAFSDFFRNSTAAWWK	1.0	1.0	unscreened	-	3713_7:141885813-141885813 C>T_TQVKLYRAYVAFSDFFRNSTAAWWK
16:84485542-84485542 C>T	0.0	3713	MELANOMA	-	-	-	-	ATP2C2	NM_001291454,p.S408F|NM_014861,p.S559F|uc002fhx.3,p.S559F|ENST00000416219,p.S559F|NM_001286527,p.S559F|uc010chj.3,p.S559F|ENST00000262429,p.S559F|uc002fhz.3,p.S408F|uc002fhy.3,p.S576F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc010chj.3	nonsynonymous SNV	exon18	c.C1676T	p.S559F	MGSLGLRVLALASGPELGRLTFLGL	MGSLGLRVLALAFGPELGRLTFLGL	1.0	7.0	unscreened	-	3713_16:84485542-84485542 C>T_MGSLGLRVLALAFGPELGRLTFLGL
17:36997588-36997588 C>T	0.0	3713	MELANOMA	-	-	-	-	C17orf98	uc002hqv.2,p.G19R|ENST00000398575,p.G19R|NM_001080465,p.G19R	protein_coding	uc002hqv.2	nonsynonymous SNV	exon1	c.G55A	p.G19R	CRLRLEKGFILDGVAVSTAARAYGR	CRLRLEKGFILDRVAVSTAARAYGR	1.0	2.0	unscreened	-	3713_17:36997588-36997588 C>T_CRLRLEKGFILDRVAVSTAARAYGR
21:47546145-47546145 T>C	1.0	3713	MELANOMA	-	-	-	-	COL6A2	ENST00000357838,p.C806R|NM_001849,p.C806R|ENST00000310645,p.C806R|ENST00000300527,p.C806R|uc002zia.1,p.C806R|NM_058174,p.C806R|NM_058175,p.C806R|ENST00000409416,p.C806R|ENST00000397763,p.C806R|uc002zhy.1,p.C806R|uc002zhz.1,p.C806R	retained_intron, protein_coding, processed_transcript	uc002zia.1	nonsynonymous SNV	exon26	c.T2416C	p.C806R	AEKFIDDMEDVLCPDPQIVCPDLPC	AEKFIDDMEDVLRPDPQIVCPDLPC	10.0	2.0	-	-	3713_21:47546145-47546145 T>C_AEKFIDDMEDVLRPDPQIVCPDLPC
2:107051514-107051514 G>A	0.0	3713	MELANOMA	-	-	-	2	RGPD3	uc010ywi.1,p.H635Y|NM_001144013,p.H635Y|ENST00000409886,p.H635Y|ENST00000304514,p.H635Y	retained_intron, protein_coding	uc010ywi.1	nonsynonymous SNV	exon13	c.C1903T	p.H635Y	IPEPIDPLFKHFHSVDIQASEIVEY	IPEPIDPLFKHFYSVDIQASEIVEY	3.0	1.0	unscreened	-	3713_2:107051514-107051514 G>A_IPEPIDPLFKHFYSVDIQASEIVEY
X:34148535-34148535 C>T	0.0	3713	MELANOMA	-	-	-	-	FAM47A	NM_203408,p.D621N|uc004ddg.3,p.D621N|ENST00000346193,p.D621N	protein_coding	uc004ddg.3	nonsynonymous SNV	exon1	c.G1861A	p.D621N	REFFKWAGDLGADEESIRNLFDFTP	REFFKWAGDLGANEESIRNLFDFTP	1.0	10.0	unscreened	-	3713_X:34148535-34148535 C>T_REFFKWAGDLGANEESIRNLFDFTP
20:22562661-22562661 C>T	0.0	3713	MELANOMA	-	-	-	-	FOXA2	uc002wsn.3,p.D401N|NM_021784,p.D407N|ENST00000319993,p.D407N|uc002wsm.3,p.D407N|NM_153675,p.D401N|ENST00000419308,p.D401N|ENST00000377115,p.D401N	protein_coding	uc002wsn.3	nonsynonymous SNV	exon3	c.G1201A	p.D401N	HHSHHHHQPHKMDLKAYEQVMHYPG	HHSHHHHQPHKMNLKAYEQVMHYPG	1.0	10.0	unscreened	-	3713_20:22562661-22562661 C>T_HHSHHHHQPHKMNLKAYEQVMHYPG
3:44938232-44938232 C>T	0.0	3713	MELANOMA	-	-	-	-	TGM4	NM_003241,p.S194F|uc003cob.3,p.S49F|uc003coc.4,p.S194F|ENST00000296125,p.S194F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003coc.4	nonsynonymous SNV	exon6	c.C581T	p.S194F	GQFEKNVLDCCISLLTESSLKPTDR	GQFEKNVLDCCIFLLTESSLKPTDR	1.0	3.0	unscreened	-	3713_3:44938232-44938232 C>T_GQFEKNVLDCCIFLLTESSLKPTDR
6:154412120-154412120 C>T	0.0	3713	MELANOMA	-	-	-	-	OPRM1	uc011efe.2,p.P319L|uc010kjg.2,p.P126L|ENST00000337049,p.P226L|NM_000914,p.P226L|ENST00000524163,p.P226L|ENST00000518759,p.P145L|uc011efh.1,p.P226L|NM_001008505,p.P226L|NM_001145287,p.P126L|ENST00000414028,p.P226L|ENST00000522739,p.P226L|ENST00000360422,p.P226L|ENST00000522236,p.P126L|uc003qpn.2,p.P226L|NM_001008504,p.P226L|NM_001285527,p.P126L|ENST00000452687,p.P226L|ENST00000434900,p.P319L|uc011eff.1,p.P226L|NM_001145284,p.P226L|uc003qpr.2,p.P226L|uc003qpu.2,p.P126L|uc031sqm.1,p.P288L|NM_001145282,p.P226L|uc003qpo.1,p.P226L|uc011efg.1,p.P226L|ENST00000519083,p.P226L|NM_001145283,p.P226L|ENST00000435918,p.P226L|NM_001145286,p.P226L|uc003qpt.1,p.P226L|NM_001285524,p.P319L|NM_001145285,p.P226L|ENST00000428397,p.P226L|NM_001145279,p.P319L|ENST00000229768,p.P226L|NM_001145281,p.P145L|uc003qpq.1,p.P226L|uc011efc.1,p.P145L|NM_001285526,p.P126L|NM_001285523,p.P226L|ENST00000520708,p.P126L|uc011efd.2,p.P126L|uc011efi.2,p.P226L|NM_001145280,p.P126L|NM_001008503,p.P226L|ENST00000419506,p.P226L|ENST00000330432,p.P226L|ENST00000522555,p.P126L|NM_001285528,p.P126L	protein_coding, processed_transcript, nonsense_mediated_decay	uc031sqm.1	nonsynonymous SNV	exon3	c.C863T	p.P288L	QGSIDCTLTFSHPTWYWENLLKICV	QGSIDCTLTFSHLTWYWENLLKICV	1.0	6.0	unscreened	-	3713_6:154412120-154412120 C>T_QGSIDCTLTFSHLTWYWENLLKICV
2:107041182-107041182 C>T	0.0	3713	MELANOMA	-	-	-	2	RGPD3	uc010ywi.1,p.G1081S|ENST00000409886,p.G1081S|ENST00000304514,p.G1081S|NM_001144013,p.G1081S	retained_intron, protein_coding	uc010ywi.1	nonsynonymous SNV	exon20	c.G3241A	p.G1081S	RFDAEVSQWKERGLGNLKILKNEVN	RFDAEVSQWKERSLGNLKILKNEVN	3.0	1.0	unscreened	-	3713_2:107041182-107041182 C>T_RFDAEVSQWKERSLGNLKILKNEVN
7:103180717-103180717 G>A	0.0	3713	MELANOMA	-	-	-	-	RELN	NM_005045,p.S2286F|uc010liz.3,p.S2286F|ENST00000424685,p.S2286F|uc022ajq.1,p.S2286F|uc022ajr.1,p.S2286F|NM_173054,p.S2286F|ENST00000343529,p.S2286F|ENST00000428762,p.S2286F	retained_intron, protein_coding, processed_transcript	uc022ajr.1	nonsynonymous SNV	exon44	c.C6857T	p.S2286F	RYIALEIPLKARSGSTRLRWWQPSE	RYIALEIPLKARFGSTRLRWWQPSE	1.0	8.0	unscreened	-	3713_7:103180717-103180717 G>A_RYIALEIPLKARFGSTRLRWWQPSE
X:84537238-84537238 T>A	0.0	3713	MELANOMA	-	-	-	-	POF1B	ENST00000373145,p.I579F|uc004ees.3,p.I579F	protein_coding, nonsense_mediated_decay	uc004ees.3	nonsynonymous SNV	exon16	c.A1735T	p.I579F	YIPPGSETQTIVIEKTEDKYTCVSS	YIPPGSETQTIVFEKTEDKYTCVSS	1.0	10.0	unscreened	-	3713_X:84537238-84537238 T>A_YIPPGSETQTIVFEKTEDKYTCVSS
X:37587359-37587359 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1714869;OCCURENCE=1(skin)	-	XK	uc004ddq.3,p.E327K|NM_021083,p.E327K|ENST00000378616,p.E327K	protein_coding	uc004ddq.3	nonsynonymous SNV	exon3	c.G979A	p.E327K	YQLLVYYMIRFIENAILLLLWYLFK	YQLLVYYMIRFIKNAILLLLWYLFK	1.0	6.0	unscreened	-	3713_X:37587359-37587359 G>A_YQLLVYYMIRFIKNAILLLLWYLFK
3:126916088-126916088 C>T	0.0	3713	MELANOMA	-	-	-	-	C3orf56	uc003eji.1,p.P187L|ENST00000398112,p.P187L|NM_001007534,p.P187L	protein_coding	uc003eji.1	nonsynonymous SNV	exon2	c.C560T	p.P187L	RGAPYLKTCKAPPSEWASRFGIWAP	RGAPYLKTCKAPLSEWASRFGIWAP	1.0	4.0	unscreened	-	3713_3:126916088-126916088 C>T_RGAPYLKTCKAPLSEWASRFGIWAP
10:96985083-96985083 G>A	0.0	3713	MELANOMA	-	-	-	-	ACSM6	uc001kke.3,p.E413K|NM_207321,p.E413K|ENST00000341686,p.E413K|uc009xuu.1,p.E323K|ENST00000394005,p.E413K	protein_coding, nonsense_mediated_decay	uc009xuu.1	nonsynonymous SNV	exon10	c.G967A	p.E323K	IVDENSNLLPPGEEGNIAIRIKLNQ	IVDENSNLLPPGKEGNIAIRIKLNQ	1.0	6.0	unscreened	-	3713_10:96985083-96985083 G>A_IVDENSNLLPPGKEGNIAIRIKLNQ
10:124392380-124392380 C>T	0.0	3713	MELANOMA	-	-	-	-	DMBT1	uc021qaf.1,p.P1995L|NM_004406,p.P1367L|ENST00000368956,p.P1367L|ENST00000330163,p.P1367L|uc001lgl.1,p.P1985L|ENST00000344338,p.P1985L|uc001lgk.1,p.P1995L|uc021qah.1,p.P1367L|uc009yab.1,p.P698L|ENST00000359586,p.P715L|ENST00000368909,p.P1995L|uc021qag.1,p.P1985L|uc010qtx.1,p.P715L|uc001lgm.1,p.P1367L|NM_017579,p.P1985L|ENST00000338354,p.P1995L|NM_007329,p.P1995L|uc009yac.1,p.P289L|ENST00000368955,p.P1985L	protein_coding	uc021qah.1	nonsynonymous SNV	exon35	c.C4100T	p.P1367L	VICSGNHLSTPAPFLNITRPNTDYS	VICSGNHLSTPALFLNITRPNTDYS	1.0	4.0	unscreened	-	3713_10:124392380-124392380 C>T_VICSGNHLSTPALFLNITRPNTDYS
3:38938521-38938521 C>T	0.0	3713	MELANOMA	-	-	-	-	SCN11A	NM_014139,p.G740S|ENST00000456224,p.G740S|NM_001287223,p.G740S|uc021wvy.1,p.G740S|ENST00000302328,p.G740S|ENST00000444237,p.G740S|ENST00000450244,p.G740S	protein_coding	uc021wvy.1	nonsynonymous SNV	exon14	c.G2218A	p.G740S	NSQKSPKLCNPTGPTVSCLRHWHMG	NSQKSPKLCNPTSPTVSCLRHWHMG	1.0	3.0	unscreened	-	3713_3:38938521-38938521 C>T_NSQKSPKLCNPTSPTVSCLRHWHMG
7:141873101-141873101 G>A	0.0	3713	MELANOMA	-	-	-	-	LOC93432	ENST00000477922,p.D1212N|NM_001293626,p.D1212N	retained_intron, protein_coding	NM_001293626	nonsynonymous SNV	exon31	c.G3634A	p.D1212N	LGFHLSRYGYQNDAEISSLYDAMVA	LGFHLSRYGYQNNAEISSLYDAMVA	1.0	1.0	unscreened	-	3713_7:141873101-141873101 G>A_LGFHLSRYGYQNNAEISSLYDAMVA
6:94120377-94120377 G>A	0.0	3713	MELANOMA	-	-	-	2	EPHA7	uc011eac.2,p.S225F|NM_001288630,p.S225F|ENST00000369297,p.S225F|NM_001288629,p.S225F|uc003pof.3,p.S225F|ENST00000369303,p.S225F|NM_004440,p.S225F|uc003pog.4,p.S225F|uc003poe.3,p.S225F	protein_coding	uc011eac.2	nonsynonymous SNV	exon3	c.C674T	p.S225F	AIFPDTVTGSEFSSLVEVRGTCVSS	AIFPDTVTGSEFFSLVEVRGTCVSS	1.0	7.0	unscreened	-	3713_6:94120377-94120377 G>A_AIFPDTVTGSEFFSLVEVRGTCVSS
18:47462659-47462659 G>A	0.0	3713	MELANOMA	-	-	-	-	MYO5B	NM_001080467,p.R656C|ENST00000285039,p.R656C|uc002leb.2,p.R656C	retained_intron, protein_coding, processed_transcript	uc002leb.2	nonsynonymous SNV	exon16	c.C1966T	p.R656C	METLNATTPHYVRCIKPNDEKLPFH	METLNATTPHYVCCIKPNDEKLPFH	1.0	1.0	unscreened	-	3713_18:47462659-47462659 G>A_METLNATTPHYVCCIKPNDEKLPFH
2:179440067-179440067 C>T	0.0	3713	MELANOMA	-	-	-	-	TTN	NM_133437,p.G14725R|ENST00000591111,p.G21957R|uc021vsy.2,p.G21030R|uc031rqc.1,p.G23598R|uc021vtb.2,p.G14533R|NM_003319,p.G14533R|ENST00000460472,p.G14533R|ENST00000359218,p.G14658R|uc031rqd.1,p.G21957R|ENST00000342992,p.G21030R|ENST00000342175,p.G14725R|NM_001267550,p.G23598R|NM_133432,p.G14658R|NM_133378,p.G21030R|ENST00000589042,p.G23598R|uc021vta.2,p.G14658R|NM_001256850,p.G21957R|uc021vsz.2,p.G14725R	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon276	c.G65869A	p.G21957R	KGLECVVRNLTEGEEYTFQVMAVNS	KGLECVVRNLTEREEYTFQVMAVNS	1.0	8.0	unscreened	-	3713_2:179440067-179440067 C>T_KGLECVVRNLTEREEYTFQVMAVNS
3:38936334-38936334 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1537885;OCCURENCE=2(lung)	-	SCN11A	NM_014139,p.A842V|ENST00000450244,p.A842V|uc021wvy.1,p.A842V|ENST00000456224,p.A842V|NM_001287223,p.A842V|ENST00000302328,p.A842V|ENST00000444237,p.A842V	protein_coding	uc021wvy.1	nonsynonymous SNV	exon15	c.C2525T	p.A842V	TKVQLALDRFRRAFCFVRHTLEHFC	TKVQLALDRFRRVFCFVRHTLEHFC	1.0	7.0	unscreened	-	3713_3:38936334-38936334 G>A_TKVQLALDRFRRVFCFVRHTLEHFC
9:35806217-35806217 C>T	1.0	3713	MELANOMA	0.0032	-	-	-	NPR2	uc010mlb.3,p.R763W|ENST00000447210,p.R46W|ENST00000342694,p.R787W|uc003zyd.3,p.R787W|NM_003995,p.R787W	retained_intron, protein_coding, nonsense_mediated_decay	uc010mlb.3	nonsynonymous SNV	exon14	c.C2287T	p.R763W	ERPDFGQIKGFIRRFNKEGGTSILD	ERPDFGQIKGFIWRFNKEGGTSILD	4.0	7.0	-	-	3713_9:35806217-35806217 C>T_ERPDFGQIKGFIWRFNKEGGTSILD
3:189681871-189681871 T>A	1.0	3713	MELANOMA	-	-	-	-	LEPREL1	uc003fsg.3,p.K456I|NM_001134418,p.K456I|NM_018192,p.K637I|uc011bsk.2,p.K637I|ENST00000427335,p.K456I|ENST00000319332,p.K637I	retained_intron, protein_coding	uc011bsk.2	nonsynonymous SNV	exon14	c.A1910T	p.K637I	MDAKTVTASIKPKCGRMISFSSGGE	MDAKTVTASIKPICGRMISFSSGGE	2.0	3.0	-	-	3713_3:189681871-189681871 T>A_MDAKTVTASIKPICGRMISFSSGGE
1:170928662-170928662 G>A	0.0	3713	MELANOMA	-	-	-	-	MROH9	NM_001163629,p.G71E|uc001ghg.3,p.G71E|ENST00000367758,p.G71E|ENST00000367759,p.G71E|NM_025063,p.G71E|uc010plz.2,p.G71E	protein_coding	uc010plz.2	nonsynonymous SNV	exon5	c.G212A	p.G71E	FESQLKIIESSFGMLVVMPSLDKVK	FESQLKIIESSFEMLVVMPSLDKVK	1.0	5.0	unscreened	-	3713_1:170928662-170928662 G>A_FESQLKIIESSFEMLVVMPSLDKVK
1:248366835-248366835 G>A	0.0	3713	MELANOMA	-	-	-	-	OR2M3	ENST00000456743,p.G156R|NM_001004689,p.G156R|uc010pzg.2,p.G156R	protein_coding	uc010pzg.2	nonsynonymous SNV	exon1	c.G466A	p.G156R	MTAFSWILGSTDGIIDVVATFSFSY	MTAFSWILGSTDRIIDVVATFSFSY	1.0	6.0	unscreened	-	3713_1:248366835-248366835 G>A_MTAFSWILGSTDRIIDVVATFSFSY
3:33194342-33194342 C>T	0.0	3713	MELANOMA	-	-	-	-	SUSD5	NM_015551,p.M594I|ENST00000309558,p.M594I|uc003cfo.1,p.M594I	protein_coding	uc003cfo.1	nonsynonymous SNV	exon5	c.G1782A	p.M594I	VLCLLLLLAGVGMVWGYRKCQHKSS	VLCLLLLLAGVGIVWGYRKCQHKSS	1.0	2.0	unscreened	-	3713_3:33194342-33194342 C>T_VLCLLLLLAGVGIVWGYRKCQHKSS
17:39674643-39674643 G>A	1.0	3713	MELANOMA	-	-	-	-	KRT15	NM_002275,p.P146L	retained_intron, protein_coding, nonsense_mediated_decay	NM_002275	nonsynonymous SNV	exon1	c.C437T	p.P146L	EVKIHDWYQKQTPTSPECDYSQYFK	EVKIHDWYQKQTLTSPECDYSQYFK	1.0	10.0	unscreened	-	3713_17:39674643-39674643 G>A_EVKIHDWYQKQTLTSPECDYSQYFK
16:56936314-56936314 C>T	0.0	3713	MELANOMA	-	-	-	-	SLC12A3	NM_001126108,p.P917L|NM_001126107,p.P925L|ENST00000566786,p.P925L|uc002ekd.4,p.P926L|NM_000339,p.P926L|ENST00000438926,p.P926L|uc010ccm.3,p.P917L|ENST00000563236,p.P917L|uc010ccn.3,p.P925L|ENST00000262502,p.P916L	retained_intron, protein_coding, processed_transcript	uc010ccn.3	nonsynonymous SNV	exon24	c.C2774T	p.P925L	AEHTKRFEDMIAPFRLNDGFKDEAT	AEHTKRFEDMIALFRLNDGFKDEAT	1.0	1.0	unscreened	-	3713_16:56936314-56936314 C>T_AEHTKRFEDMIALFRLNDGFKDEAT
5:35065850-35065850 G>A	0.0	3713	MELANOMA	-	-	-	-	PRLR	NM_001204314,p.P303S|ENST00000342362,p.P303S|uc003jjl.4,p.P303S|ENST00000511486,p.P303S|uc003jjm.3,p.P404S|ENST00000382002,p.P404S|NM_000949,p.P404S	protein_coding, processed_transcript, nonsense_mediated_decay	uc003jjm.3	nonsynonymous SNV	exon10	c.C1210T	p.P404S	WDPQCISMEGKIPYFHAGGSKCSTW	WDPQCISMEGKISYFHAGGSKCSTW	1.0	7.0	unscreened	-	3713_5:35065850-35065850 G>A_WDPQCISMEGKISYFHAGGSKCSTW
1:48231764-48231764 G>A	0.0	3713	MELANOMA	-	-	-	-	TRABD2B	uc021ong.1,p.P455L|ENST00000371865,p.P455L|NM_001194986,p.P455L	protein_coding, processed_transcript	uc021ong.1	nonsynonymous SNV	exon7	c.C1364T	p.P455L	LWVRIEDSTTASPPPLPLQPTHSSG	LWVRIEDSTTASLPPLPLQPTHSSG	1.0	4.0	unscreened	-	3713_1:48231764-48231764 G>A_LWVRIEDSTTASLPPLPLQPTHSSG
19:14991450-14991450 T>C	0.0	3713	MELANOMA	-	-	-	-	OR7A17	NM_030901,p.T240A|ENST00000327462,p.T240A|uc010xob.2,p.T240A	protein_coding	uc010xob.2	nonsynonymous SNV	exon1	c.A718G	p.T240A	ISSAQGKYKAFSTCASHLSVVSLFC	ISSAQGKYKAFSACASHLSVVSLFC	1.0	10.0	unscreened	-	3713_19:14991450-14991450 T>C_ISSAQGKYKAFSACASHLSVVSLFC
19:48374818-48374818 G>A	0.0	3713	MELANOMA	-	-	-	-	SULT2A1	ENST00000222002,p.S251F|uc002phr.2,p.S251F|NM_003167,p.S251F	protein_coding	uc002phr.2	nonsynonymous SNV	exon6	c.C752T	p.S251F	VVDKAQLLRKGVSGDWKNHFTVAQA	VVDKAQLLRKGVFGDWKNHFTVAQA	1.0	10.0	unscreened	-	3713_19:48374818-48374818 G>A_VVDKAQLLRKGVFGDWKNHFTVAQA
5:42713597-42713597 T>C	0.0	3713	MELANOMA	-	-	-	-	GHR	uc021xyb.1,p.V284A	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xyb.1	nonsynonymous SNV	exon7	c.T851C	p.V284A	IFGIFGLTVMLFVFLFSKQQSSSSK	IFGIFGLTVMLFAFLFSKQQSSSSK	1.0	10.0	unscreened	-	3713_5:42713597-42713597 T>C_IFGIFGLTVMLFAFLFSKQQSSSSK
4:96761392-96761392 G>A	0.0	3713	MELANOMA	-	-	-	-	PDHA2	NM_005390,p.D31N|uc003htr.4,p.D31N|ENST00000295266,p.D31N	protein_coding	uc003htr.4	nonsynonymous SNV	exon1	c.G91A	p.D31N	RRVLVASRNSSNDATFEIKKCDLYL	RRVLVASRNSSNNATFEIKKCDLYL	1.0	9.0	unscreened	-	3713_4:96761392-96761392 G>A_RRVLVASRNSSNNATFEIKKCDLYL
1:205890903-205890903 G>A	0.0	3713	MELANOMA	-	-	-	-	SLC26A9	ENST00000367135,p.P616S|ENST00000340781,p.P616S|uc001hdo.3,p.P284S|uc001hdq.3,p.P616S|uc001hdp.3,p.P616S|NM_052934,p.P616S|NM_134325,p.P616S|ENST00000367134,p.P616S	retained_intron, protein_coding	uc001hdq.3	nonsynonymous SNV	exon17	c.C1846T	p.P616S	NAPPTDPNNNQTPANGTSVSYITFS	NAPPTDPNNNQTSANGTSVSYITFS	1.0	1.0	unscreened	-	3713_1:205890903-205890903 G>A_NAPPTDPNNNQTSANGTSVSYITFS
5:157075849-157075849 C>T	0.0	3713	MELANOMA	-	-	-	-	SOX30	ENST00000265007,p.M341I|NM_178424,p.M341I|uc003lxb.1,p.M341I|uc003lxc.1,p.M341I|ENST00000519442,p.M36I|ENST00000311371,p.M341I|NM_007017,p.M341I|uc011dds.1,p.M36I	protein_coding	uc011dds.1	nonsynonymous SNV	exon3	c.G108A	p.M36I	FSKDRNGHVKRPMNAFMVWARIHRP	FSKDRNGHVKRPINAFMVWARIHRP	1.0	4.0	unscreened	-	3713_5:157075849-157075849 C>T_FSKDRNGHVKRPINAFMVWARIHRP
19:54803718-54803718 C>T	0.0	3713	MELANOMA	-	-	-	-	LILRA3	NM_001172654,p.G36S|ENST00000251390,p.G36S|uc002qfd.3,p.G36S|ENST00000391745,p.G53S|NM_006865,p.G36S|uc010erk.3,p.G36S|ENST00000391744,p.G36S	protein_coding	uc010erk.3	nonsynonymous SNV	exon3	c.G106A	p.G36S	GPLPKPTLWAEPGSVITQGSPVTLR	GPLPKPTLWAEPSSVITQGSPVTLR	1.0	9.0	unscreened	-	3713_19:54803718-54803718 C>T_GPLPKPTLWAEPSSVITQGSPVTLR
19:49639999-49639999 C>T	1.0	3713	MELANOMA	-	-	-	-	PPFIA3	NM_003660,p.P562S|uc002pmr.3,p.P562S|uc002pms.3,p.P430S|ENST00000602655,p.P562S|uc010emt.3,p.P486S|ENST00000602351,p.P562S|ENST00000334186,p.P562S	protein_coding	uc010emt.3	nonsynonymous SNV	exon13	c.C1456T	p.P486S	KEEPSKDWERSAPAGSIPPPFPGEL	KEEPSKDWERSASAGSIPPPFPGEL	2.0	8.0	unscreened	-	3713_19:49639999-49639999 C>T_KEEPSKDWERSASAGSIPPPFPGEL
17:68171237-68171237 G>A	1.0	3713	MELANOMA	-	-	-	-	KCNJ2	uc021ucj.1,p.M19I|ENST00000535240,p.M19I|ENST00000243457,p.M19I|NM_000891,p.M19I|uc002jir.3,p.M19I|uc010dfg.3,p.M19I	protein_coding	uc021ucj.1	nonsynonymous SNV	exon1	c.G57A	p.M19I	NRYSIVSSEEDGMKLATMAVANGFG	NRYSIVSSEEDGIKLATMAVANGFG	3.0	7.0	unscreened	-	3713_17:68171237-68171237 G>A_NRYSIVSSEEDGIKLATMAVANGFG
X:69424192-69424192 G>A	0.0	3713	MELANOMA	-	-	-	-	DGAT2L6	ENST00000333026,p.E229K|uc004dxx.1,p.E229K|NM_198512,p.E229K	protein_coding	uc004dxx.1	nonsynonymous SNV	exon6	c.G685A	p.E229K	AYLVPSYSFGENEVFNQETFPEGTW	AYLVPSYSFGENKVFNQETFPEGTW	1.0	10.0	unscreened	-	3713_X:69424192-69424192 G>A_AYLVPSYSFGENKVFNQETFPEGTW
17:12887871-12887871 C>T	0.0	3713	MELANOMA	-	-	-	-	ARHGAP44	ENST00000544416,p.S516F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, lincRNA	ENST00000544416	nonsynonymous SNV	exon17	c.C1547T	p.S516F	YKKDGFKEAGTDSTQGPLWPAGGYG	YKKDGFKEAGTDFTQGPLWPAGGYG	1.0	10.0	unscreened	-	3713_17:12887871-12887871 C>T_YKKDGFKEAGTDFTQGPLWPAGGYG
14:65236445-65236445 C>T	0.0	3713	MELANOMA	-	-	-	-	SPTB	ENST00000389722,p.D1934N|uc001xht.3,p.D1934N|ENST00000389720,p.D1934N|ENST00000542895,p.D1934N|uc001xhu.3,p.D1934N|uc001xhs.3,p.D1934N|ENST00000553938,p.D599N|ENST00000389721,p.D1934N|uc010aqi.3,p.D595N|uc001xhr.3,p.D1934N|NM_001024858,p.D1934N|NM_000347,p.D1934N|ENST00000556626,p.D1934N	retained_intron, protein_coding, processed_transcript	uc010aqi.3	nonsynonymous SNV	exon9	c.G1783A	p.D595N	IIRQIETQERPRDVSSVELLMKYHQ	IIRQIETQERPRNVSSVELLMKYHQ	1.0	10.0	unscreened	-	3713_14:65236445-65236445 C>T_IIRQIETQERPRNVSSVELLMKYHQ
14:70634926-70634926 C>T	0.0	3713	MELANOMA	-	-	-	-	SLC8A3	NM_033262,p.D72N|ENST00000528359,p.D72N|uc001xlw.3,p.D72N|uc001xlx.3,p.D72N|ENST00000381269,p.D72N|NM_182932,p.D72N|uc001xlz.3,p.D72N|NM_183002,p.D72N|ENST00000534137,p.D72N|uc001xly.3,p.D72N|ENST00000357887,p.D72N|NM_058240,p.D72N|ENST00000356921,p.D72N|ENST00000494208,p.D72N	protein_coding, processed_transcript, nonsense_mediated_decay	uc001xlz.3	nonsynonymous SNV	exon2	c.G214A	p.D72N	LPIWYPENPSLGDKIARVIVYFVAL	LPIWYPENPSLGNKIARVIVYFVAL	1.0	10.0	unscreened	-	3713_14:70634926-70634926 C>T_LPIWYPENPSLGNKIARVIVYFVAL
4:126238191-126238191 G>A	1.0	3713	MELANOMA	-	-	-	1	FAT4	ENST00000394329,p.D209N|NM_024582,p.D209N|uc003ifj.4,p.D209N|NM_001291303,p.D209N|NM_001291285,p.D209N	retained_intron, protein_coding	uc003ifj.4	nonsynonymous SNV	exon1	c.G625A	p.D209N	GAFLHLVSKGGLDREVTPQYQLLVE	GAFLHLVSKGGLNREVTPQYQLLVE	1.0	9.0	unscreened	-	3713_4:126238191-126238191 G>A_GAFLHLVSKGGLNREVTPQYQLLVE
8:77618596-77618596 C>T	0.0	3713	MELANOMA	-	-	ID=COSM3650993,COSM3650994;OCCURENCE=1(oesophagus)	-	ZFHX4	uc003yat.1,p.P758L|ENST00000050961,p.P758L|ENST00000455469,p.P758L|ENST00000521891,p.P758L|ENST00000518282,p.P758L|uc003yaw.1,p.P758L|uc003yau.2,p.P758L|NM_024721,p.P758L	retained_intron, protein_coding, nonsense_mediated_decay	uc003yaw.1	nonsynonymous SNV	exon1	c.C2273T	p.P758L	PNTSLSGCGTPSPSKPKQKPTWRCE	PNTSLSGCGTPSLSKPKQKPTWRCE	1.0	1.0	unscreened	-	3713_8:77618596-77618596 C>T_PNTSLSGCGTPSLSKPKQKPTWRCE
5:131325186-131325186 C>T	0.0	3713	MELANOMA	-	-	-	2	ACSL6	ENST00000430403,p.E131K|ENST00000416557,p.E131K|NM_001205247,p.E121K|ENST00000413683,p.E131K|ENST00000357096,p.E96K|NM_001205248,p.E131K|uc003kvy.2,p.E156K|uc003kwb.3,p.E121K|ENST00000543479,p.E131K|ENST00000296869,p.E156K|NM_015256,p.E156K|uc010jdn.2,p.E131K|ENST00000544770,p.E40K|NM_001205250,p.E142K|uc003kwc.1,p.E96K|ENST00000379255,p.E96K|NM_001009185,p.E156K|ENST00000379272,p.E131K|ENST00000431707,p.E96K|NM_001205251,p.E96K|ENST00000419502,p.E131K|uc003kwa.2,p.E142K|ENST00000379246,p.E142K|ENST00000434099,p.E96K|uc003kwd.1,p.E131K|ENST00000379240,p.E131K|ENST00000379249,p.E131K|uc003kvx.2,p.E156K|uc021ydh.1,p.E96K|ENST00000379244,p.E131K|uc003kvz.2,p.E96K|ENST00000379264,p.E156K|uc010jdo.2,p.E131K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ydh.1	nonsynonymous SNV	exon5	c.G286A	p.E96K	QWLSYQEVADRAEFLGSGLLQHNCK	QWLSYQEVADRAKFLGSGLLQHNCK	2.0	3.0	unscreened	-	3713_5:131325186-131325186 C>T_QWLSYQEVADRAKFLGSGLLQHNCK
7:136699887-136699887 G>A	0.0	3713	MELANOMA	-	-	-	-	CHRM2	ENST00000397608,p.G92E|ENST00000402486,p.G92E|ENST00000453373,p.G92E|uc022ame.1,p.G92E|uc003vtk.1,p.G92E|ENST00000401861,p.G92E|NM_000739,p.G92E|uc003vtl.1,p.G92E|uc003vtg.1,p.G92E|NM_001006631,p.G92E|NM_001006630,p.G92E|uc003vto.1,p.G92E|NM_001006632,p.G92E|ENST00000445907,p.G92E|uc003vtm.1,p.G92E|NM_001006629,p.G92E|NM_001006628,p.G92E|uc003vtj.1,p.G92E|uc003vtf.1,p.G92E|uc003vtn.1,p.G92E|NM_001006627,p.G92E|uc003vti.1,p.G92E|ENST00000320658,p.G92E|NM_001006626,p.G92E	protein_coding, processed_transcript	uc022ame.1	nonsynonymous SNV	exon1	c.G275A	p.G92E	YTLYTVIGYWPLGPVVCDLWLALDY	YTLYTVIGYWPLEPVVCDLWLALDY	1.0	9.0	unscreened	-	3713_7:136699887-136699887 G>A_YTLYTVIGYWPLEPVVCDLWLALDY
18:61585272-61585272 A>G	0.0	3713	MELANOMA	-	-	-	-	SERPINB10	uc010xev.2,p.N103S|uc010xew.2,p.N103S|ENST00000238508,p.N103S|NM_005024,p.N103S	protein_coding	uc010xew.2	nonsynonymous SNV	exon3	c.A308G	p.N103S	DFQTLISEILKPNDDYLLKTANAIY	DFQTLISEILKPSDDYLLKTANAIY	1.0	10.0	unscreened	-	3713_18:61585272-61585272 A>G_DFQTLISEILKPSDDYLLKTANAIY
2:179495094-179495094 C>T	0.0	3713	MELANOMA	-	-	-	-	TTN	NM_001267550,p.D14719N|NM_001256850,p.D13078N|ENST00000359218,p.D5779N|uc031rqd.1,p.D13078N|uc021vsy.2,p.D12151N|NM_003319,p.D5654N|uc021vsz.2,p.D5846N|ENST00000589042,p.D14719N|uc031rqc.1,p.D14719N|ENST00000460472,p.D5654N|NM_133432,p.D5779N|ENST00000591111,p.D13078N|ENST00000342992,p.D12151N|NM_133437,p.D5846N|ENST00000342175,p.D5846N|NM_133378,p.D12151N|uc021vta.2,p.D5779N|uc021vtb.2,p.D5654N	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon189	c.G39232A	p.D13078N	WKLKGEALLQTPDCEIKEEGKIHSL	WKLKGEALLQTPNCEIKEEGKIHSL	1.0	10.0	unscreened	-	3713_2:179495094-179495094 C>T_WKLKGEALLQTPNCEIKEEGKIHSL
3:93803294-93803294 G>A	1.0	3713	MELANOMA	-	-	-	-	NSUN3	ENST00000483378,p.R73K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000483378	nonsynonymous SNV	exon3	c.G218A	p.R73K	REINSSAAVCLSRLSSL	REINSSAAVCLSKLSSL	5.0	3.0	unscreened	-	3713_3:93803294-93803294 G>A_REINSSAAVCLSKLSSL
1:175360441-175360441 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1229977;OCCURENCE=1(large_intestine)	-	TNR	ENST00000367674,p.S497L|uc001gkp.1,p.S497L|uc009wwu.1,p.S497L|NM_003285,p.S497L|ENST00000263525,p.S497L	protein_coding	uc009wwu.1	nonsynonymous SNV	exon7	c.C1490T	p.S497L	VALKEQARSPPTSASVSTVIDGPTQ	VALKEQARSPPTLASVSTVIDGPTQ	1.0	8.0	unscreened	-	3713_1:175360441-175360441 G>A_VALKEQARSPPTLASVSTVIDGPTQ
5:89970009-89970009 G>A	0.0	3713	MELANOMA	-	-	-	-	GPR98	ENST00000405460,p.E1690K|NM_032119,p.E1690K|uc003kju.3,p.E1690K	retained_intron, protein_coding, processed_transcript	uc003kju.3	nonsynonymous SNV	exon23	c.G5068A	p.E1690K	TPTSGASIDPEKETTDITIKASDHP	TPTSGASIDPEKKTTDITIKASDHP	1.0	10.0	unscreened	-	3713_5:89970009-89970009 G>A_TPTSGASIDPEKKTTDITIKASDHP
9:4118775-4118775 G>A	1.0	3713	MELANOMA	-	-	-	-	GLIS3	uc010mhi.1,p.P42S|uc003zif.1,p.P13S|uc003zie.1,p.P235S|uc003zig.1,p.P79S|uc003zib.1,p.P79S|uc003zhy.1,p.P13S|NM_152629,p.P80S|ENST00000324333,p.P80S|uc003zhz.1,p.P13S|uc003zid.1,p.P13S|ENST00000381971,p.P235S|uc010mhg.1,p.P13S|uc003zic.1,p.P235S|uc003zih.1,p.P13S|uc003zhw.1,p.P80S|uc003zhx.1,p.P235S|uc010mhh.1,p.P110S|NM_001042413,p.P235S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010mhi.1	nonsynonymous SNV	exon2	c.C124T	p.P42S	MKQEWSQGYRALPSLSNHGSQNGLD	MKQEWSQGYRALSSLSNHGSQNGLD	1.0	9.0	-	-	3713_9:4118775-4118775 G>A_MKQEWSQGYRALSSLSNHGSQNGLD
X:84522352-84522352 C>T	0.0	3713	MELANOMA	-	-	-	-	ZNF711	ENST00000395402,p.P307S|uc004eeq.3,p.P329S|ENST00000360700,p.P329S|ENST00000542798,p.P125S	protein_coding	uc004eeq.3	nonsynonymous SNV	exon7	c.C985T	p.P329S	EVIVGEEEGTSLPEIQLEDSDVNKT	EVIVGEEEGTSLSEIQLEDSDVNKT	1.0	10.0	unscreened	-	3713_X:84522352-84522352 C>T_EVIVGEEEGTSLSEIQLEDSDVNKT
19:19337523-19337523 G>A	0.0	3713	MELANOMA	-	-	-	-	NCAN	NM_004386,p.G434E|uc002nlz.3,p.G434E|ENST00000252575,p.G434E	retained_intron, protein_coding	uc002nlz.3	nonsynonymous SNV	exon7	c.G1301A	p.G434E	KQESQQTLSPTPGDPMLASWPTGEV	KQESQQTLSPTPEDPMLASWPTGEV	1.0	5.0	unscreened	-	3713_19:19337523-19337523 G>A_KQESQQTLSPTPEDPMLASWPTGEV
4:90170672-90170672 C>T	0.0	3713	MELANOMA	0.0037	-	-	-	GPRIN3	uc003hsm.1,p.G197E|ENST00000333209,p.G197E|uc021xqb.1,p.G197E|NM_198281,p.G197E	protein_coding	uc021xqb.1	nonsynonymous SNV	exon1	c.G590A	p.G197E	VSCEFPSPETIQGTVQTPVTAARVV	VSCEFPSPETIQETVQTPVTAARVV	5.0	6.0	unscreened	-	3713_4:90170672-90170672 C>T_VSCEFPSPETIQETVQTPVTAARVV
X:140785678-140785678 G>A	0.0	3713	MELANOMA	-	-	-	-	SPANXC,SPANXD	ENST00000370515,p.L80F|NM_032417,p.L80F	protein_coding	NM_032417	nonsynonymous SNV	exon2	c.C238T	p.L80F	VNDHARKNRINPLQMEEEEFMEIMV	VNDHARKNRINPFQMEEEEFMEIMV	1.0	7.0	unscreened	-	3713_X:140785678-140785678 G>A_VNDHARKNRINPFQMEEEEFMEIMV
12:70065338-70065338 C>T	0.0	3713	MELANOMA	-	-	-	-	BEST3	uc001svf.3,p.E111K|NM_152439,p.E111K|uc010stm.2,p.E218K|NM_001282614,p.E324K|ENST00000476098,p.E111K|ENST00000331471,p.E324K|ENST00000330891,p.E324K|uc001svd.2,p.E324K|NM_001282613,p.E218K|uc001svg.3,p.E324K|NM_032735,p.E324K|ENST00000553096,p.E218K|ENST00000488961,p.E111K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010stm.2	nonsynonymous SNV	exon7	c.G652A	p.E218K	DRNLQVSLLAVDEMHMSLPKMKKDI	DRNLQVSLLAVDKMHMSLPKMKKDI	1.0	10.0	unscreened	-	3713_12:70065338-70065338 C>T_DRNLQVSLLAVDKMHMSLPKMKKDI
1:175335154-175335154 C>T	0.0	3713	MELANOMA	-	-	-	-	TNR	NM_003285,p.G725E|ENST00000367674,p.G725E|uc009wwu.1,p.G725E|ENST00000263525,p.G725E|uc001gkp.1,p.G725E	protein_coding	uc009wwu.1	nonsynonymous SNV	exon11	c.G2174A	p.G725E	IDHYRITFTPSSGIASEVTVPKDRT	IDHYRITFTPSSEIASEVTVPKDRT	1.0	4.0	unscreened	-	3713_1:175335154-175335154 C>T_IDHYRITFTPSSEIASEVTVPKDRT
7:126341821-126341821 G>A	0.0	3713	MELANOMA	-	-	-	-	GRM8	ENST00000405249,p.S473F|ENST00000341617,p.S473F	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000405249	nonsynonymous SNV	exon7	c.C1418T	p.S473F	SLPWPTLFTPSFSSSWAVLALLSLL	SLPWPTLFTPSFFSSWAVLALLSLL	1.0	6.0	unscreened	-	3713_7:126341821-126341821 G>A_SLPWPTLFTPSFFSSWAVLALLSLL
1:197026242-197026242 C>T	0.0	3713	MELANOMA	-	-	-	-	F13B	NM_001994,p.D358N|uc001gtt.1,p.D358N|ENST00000367412,p.D358N	protein_coding, processed_transcript	uc001gtt.1	nonsynonymous SNV	exon7	c.G1072A	p.D358N	AANLHSKIYYNGDKVTYACKSGYLL	AANLHSKIYYNGNKVTYACKSGYLL	1.0	8.0	unscreened	-	3713_1:197026242-197026242 C>T_AANLHSKIYYNGNKVTYACKSGYLL
X:107838784-107838784 C>T	1.0	3713	MELANOMA	-	-	-	-	COL4A5	NM_000495,p.S490L|uc004eob.1,p.S98L|uc004enz.2,p.S490L|uc022ccg.2,p.S490L|ENST00000361603,p.S490L|ENST00000328300,p.S490L	retained_intron, protein_coding, processed_transcript	uc022ccg.2	nonsynonymous SNV	exon22	c.C1469T	p.S490L	GDTCFNCIGTGISGPPGQPGLPGLP	GDTCFNCIGTGILGPPGQPGLPGLP	2.0	10.0	-	-	3713_X:107838784-107838784 C>T_GDTCFNCIGTGILGPPGQPGLPGLP
4:90034231-90034231 G>A	1.0	3713	MELANOMA	-	-	-	-	TIGD2	ENST00000317005,p.G36R|NM_145715,p.G36R|uc003hsk.3,p.G36R	protein_coding	uc003hsk.3	nonsynonymous SNV	exon1	c.G106A	p.G36R	EGISFKKLSVVYGIGESTVRDIKKN	EGISFKKLSVVYRIGESTVRDIKKN	5.0	6.0	unscreened	-	3713_4:90034231-90034231 G>A_EGISFKKLSVVYRIGESTVRDIKKN
14:70634264-70634264 C>T	0.0	3713	MELANOMA	-	-	-	-	SLC8A3	NM_182932,p.M292I|ENST00000356921,p.M292I|NM_183002,p.M292I|ENST00000381269,p.M292I|ENST00000534137,p.M292I|NM_033262,p.M292I|ENST00000357887,p.M292I|ENST00000528359,p.M292I|uc001xlz.3,p.M292I|NM_058240,p.M292I|ENST00000494208,p.M292I|uc001xlw.3,p.M292I|uc001xlx.3,p.M292I|uc001xly.3,p.M292I	protein_coding, processed_transcript, nonsense_mediated_decay	uc001xlz.3	nonsynonymous SNV	exon2	c.G876A	p.M292I	DHPKGIEMDGKMMNSHFLDGNLVPL	DHPKGIEMDGKMINSHFLDGNLVPL	1.0	10.0	unscreened	-	3713_14:70634264-70634264 C>T_DHPKGIEMDGKMINSHFLDGNLVPL
6:44243255-44243255 G>A	0.0	3713	MELANOMA	-	-	-	-	TMEM151B	ENST00000451188,p.R231Q|NM_001137560,p.R231Q|uc003oxh.2,p.R231Q	protein_coding, nonsense_mediated_decay	uc003oxh.2	nonsynonymous SNV	exon3	c.G692A	p.R231Q	KTLVGLEGAPATRLRFTKCFSFASV	KTLVGLEGAPATQLRFTKCFSFASV	1.0	1.0	unscreened	-	3713_6:44243255-44243255 G>A_KTLVGLEGAPATQLRFTKCFSFASV
4:57876584-57876584 C>T	1.0	3713	MELANOMA	-	-	-	-	POLR2B	uc011caf.1,p.P413S|uc011cae.1,p.P481S|ENST00000431623,p.P413S|ENST00000381227,p.P488S|NM_000938,p.P488S|ENST00000314595,p.P488S|uc003hcl.1,p.P488S|ENST00000441246,p.P481S	retained_intron, protein_coding, processed_transcript	uc011caf.1	nonsynonymous SNV	exon10	c.C1237T	p.P413S	ASTLSHLRRLNSPIGRDGKLAKPRQ	ASTLSHLRRLNSSIGRDGKLAKPRQ	9.0	6.0	-	-	3713_4:57876584-57876584 C>T_ASTLSHLRRLNSSIGRDGKLAKPRQ
7:98534799-98534799 T>C	1.0	3713	MELANOMA	-	-	-	1	TRRAP	ENST00000446306,p.Y1377H|uc003upr.3,p.Y1070H|NM_001244580,p.Y1378H|ENST00000355540,p.Y1378H|uc003upp.3,p.Y1378H|uc011kis.2,p.Y1378H|ENST00000359863,p.Y1378H|NM_003496,p.Y1378H	retained_intron, protein_coding	uc011kis.2	nonsynonymous SNV	exon29	c.T4132C	p.Y1378H	RIAALNALAACNYLPQSREKIIAAL	RIAALNALAACNHLPQSREKIIAAL	5.0	8.0	-	-	3713_7:98534799-98534799 T>C_RIAALNALAACNHLPQSREKIIAAL
2:179422481-179422481 C>T	0.0	3713	MELANOMA	-	-	-	-	TTN	NM_001267550,p.M29200I|ENST00000591111,p.M27559I|uc021vtb.2,p.M20135I|ENST00000342175,p.M20327I|ENST00000359218,p.M20260I|uc021vta.2,p.M20260I|NM_133378,p.M26632I|ENST00000342992,p.M26632I|NM_133432,p.M20260I|NM_133437,p.M20327I|ENST00000460472,p.M20135I|uc031rqc.1,p.M29200I|uc031rqd.1,p.M27559I|ENST00000589042,p.M29200I|uc021vsz.2,p.M20327I|uc021vsy.2,p.M26632I|NM_001256850,p.M27559I|NM_003319,p.M20135I	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon278	c.G82677A	p.M27559I	VSATVARTMMKVMKLTTGEEYQFRI	VSATVARTMMKVIKLTTGEEYQFRI	1.0	8.0	unscreened	-	3713_2:179422481-179422481 C>T_VSATVARTMMKVIKLTTGEEYQFRI
X:2933343-2933343 C>T	0.0	3713	MELANOMA	-	-	-	-	ARSH	uc011mhj.2,p.L225F|ENST00000381130,p.L225F|NM_001011719,p.L225F	protein_coding	uc011mhj.2	nonsynonymous SNV	exon4	c.C673T	p.L225F	SSYGFTRRWNCILMRNHEIIQQPMK	SSYGFTRRWNCIFMRNHEIIQQPMK	1.0	10.0	unscreened	-	3713_X:2933343-2933343 C>T_SSYGFTRRWNCIFMRNHEIIQQPMK
2:223386537-223386537 C>T	0.0	3713	MELANOMA	-	-	-	-	SGPP2	ENST00000321276,p.P144S|uc010zlo.2,p.P144S|uc010zlp.2,p.P16S|NM_152386,p.P144S	protein_coding	uc010zlp.2	nonsynonymous SNV	exon4	c.C46T	p.P16S	GQVAKDVLKWPRPSSPPVVKLEKRL	GQVAKDVLKWPRSSSPPVVKLEKRL	2.0	4.0	unscreened	-	3713_2:223386537-223386537 C>T_GQVAKDVLKWPRSSSPPVVKLEKRL
7:138312170-138312170 C>T	0.0	3713	MELANOMA	-	-	-	-	SVOPL	ENST00000419765,p.G369E|ENST00000436657,p.G217E|uc011kqh.2,p.G369E|ENST00000441685,p.G122E|NM_174959,p.G217E|NM_001139456,p.G369E|ENST00000288513,p.G217E|uc003vue.3,p.G217E|ENST00000421622,p.G249E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kqh.2	nonsynonymous SNV	exon11	c.G1106A	p.G369E	LNPLNILGINFLGRRLSLSITMGCT	LNPLNILGINFLERRLSLSITMGCT	1.0	1.0	unscreened	-	3713_7:138312170-138312170 C>T_LNPLNILGINFLERRLSLSITMGCT
2:149248135-149248135 C>T	0.0	3713	MELANOMA	-	-	-	-	MBD5	uc002twp.3,p.S462L|NM_018328,p.S1412L|uc002two.3,p.S670L|uc002twm.4,p.S1412L|ENST00000404807,p.S1645L|ENST00000407073,p.S1412L	retained_intron, protein_coding, processed_transcript	uc002twp.3	nonsynonymous SNV	exon2	c.C1385T	p.S462L	PGKLVREDDVHNSCQQSPEEGKVEP	PGKLVREDDVHNLCQQSPEEGKVEP	5.0	4.0	unscreened	-	3713_2:149248135-149248135 C>T_PGKLVREDDVHNLCQQSPEEGKVEP
6:24448234-24448234 G>A	0.0	3713	MELANOMA	-	-	-	-	GPLD1	uc003ned.2,p.L517F|NM_001503,p.L517F|uc010jpr.1,p.L354F|uc010jps.1,p.L517F|ENST00000230036,p.L517F	retained_intron, protein_coding, processed_transcript	uc010jps.1	nonsynonymous SNV	exon17	c.C1549T	p.L517F	SCQDIYCNLGWTLLAADVNGDSEPD	SCQDIYCNLGWTFLAADVNGDSEPD	2.0	9.0	unscreened	-	3713_6:24448234-24448234 G>A_SCQDIYCNLGWTFLAADVNGDSEPD
11:31123812-31123812 C>T	0.0	3713	MELANOMA	-	-	-	-	DCDC5,DCDC1	ENST00000597505,p.G632E|uc001msu.2,p.G251E|uc009yjk.1,p.G80E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009yjk.1	nonsynonymous SNV	exon3	c.G239A	p.G80E	LLPGCGNWEVCEGFPINFNCTSQQI	LLPGCGNWEVCEEFPINFNCTSQQI	1.0	8.0	unscreened	-	3713_11:31123812-31123812 C>T_LLPGCGNWEVCEEFPINFNCTSQQI
3:53857506-53857506 G>A	0.0	3713	MELANOMA	-	-	-	-	CHDH	NM_018397,p.A177V|ENST00000315251,p.A177V|uc003dgz.3,p.A177V	protein_coding	uc003dgz.3	nonsynonymous SNV	exon3	c.C530T	p.A177V	PYFRKAQGHELGASRYRGADGPLRV	PYFRKAQGHELGVSRYRGADGPLRV	1.0	1.0	unscreened	-	3713_3:53857506-53857506 G>A_PYFRKAQGHELGVSRYRGADGPLRV
3:195501062-195501062 G>A	0.0	3713	MELANOMA	-	-	-	2	MUC4	ENST00000462323,p.S4353F|ENST00000477086,p.S4353F|ENST00000470451,p.S4353F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000477086	nonsynonymous SNV	exon4	c.C13058T	p.S4353F	LFKPATGFPLGSSLRDSLYASQAGT	LFKPATGFPLGSFLRDSLYASQAGT	1.0	9.0	unscreened	-	3713_3:195501062-195501062 G>A_LFKPATGFPLGSFLRDSLYASQAGT
15:74476319-74476319 C>T	0.0	3713	MELANOMA	-	-	-	-	STRA6	uc002axn.3,p.R384Q|uc021sqg.1,p.R408Q|ENST00000574278,p.R408Q|uc002axj.3,p.R432Q|uc010ulh.2,p.R431Q|uc002axm.3,p.R393Q|uc010bji.3,p.R393Q|ENST00000563965,p.R432Q|NM_022369,p.R393Q|ENST00000395105,p.R393Q|uc010uli.2,p.R430Q|ENST00000449139,p.R393Q|ENST00000423167,p.R384Q|NM_001142617,p.R393Q|ENST00000416286,p.R385Q|NM_001199040,p.R430Q|NM_001142618,p.R393Q|ENST00000323940,p.R393Q|ENST00000535552,p.R430Q|NM_001199042,p.R432Q|uc002axk.3,p.R393Q|NM_001199041,p.R408Q|uc002axl.3,p.R325Q|NM_001142619,p.R384Q|uc002axi.3,p.R202Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021sqg.1	nonsynonymous SNV	exon14	c.G1223A	p.R408Q	LMRSLVTHRTNLRALHRGAALDLSP	LMRSLVTHRTNLQALHRGAALDLSP	2.0	10.0	unscreened	-	3713_15:74476319-74476319 C>T_LMRSLVTHRTNLQALHRGAALDLSP
10:124402661-124402661 G>A	0.0	3713	MELANOMA	-	-	-	-	DMBT1	uc009yab.1,p.G1033E|ENST00000368955,p.G2320E|uc001lgl.1,p.G2320E|ENST00000368956,p.G1702E|uc001lgm.1,p.G1702E|NM_017579,p.G2320E|NM_004406,p.G1702E|uc001lgk.1,p.G2330E|NM_007329,p.G2330E|ENST00000359586,p.G1050E|ENST00000338354,p.G2330E|ENST00000330163,p.G1702E|uc021qag.1,p.G2320E|uc009yac.1,p.G624E|uc021qaf.1,p.G2330E|ENST00000368909,p.G2330E|uc010qtx.1,p.G1050E|uc021qah.1,p.G1702E|uc009xzz.1,p.G2329E|ENST00000344338,p.G2320E	protein_coding	uc021qah.1	nonsynonymous SNV	exon40	c.G5105A	p.G1702E	LIRSGCVRDDTYGPYSSPSLRIARF	LIRSGCVRDDTYEPYSSPSLRIARF	1.0	10.0	unscreened	-	3713_10:124402661-124402661 G>A_LIRSGCVRDDTYEPYSSPSLRIARF
1:220825438-220825438 C>T	0.0	3713	MELANOMA	-	-	-	-	MARK1	NM_018650,p.P561L|uc009xdw.3,p.P561L|NM_001286126,p.P561L|ENST00000366918,p.P539L|ENST00000402574,p.P426L|NM_001286124,p.P561L|ENST00000366917,p.P561L|uc001hmm.4,p.P539L|uc010pun.2,p.P561L|uc001hmn.4,p.P561L|NM_001286128,p.P539L	protein_coding, processed_transcript	uc010pun.2	nonsynonymous SNV	exon15	c.C1682T	p.P561L	PRHQKSMSTSGHPIKVTLPTIKDGS	PRHQKSMSTSGHLIKVTLPTIKDGS	1.0	2.0	unscreened	-	3713_1:220825438-220825438 C>T_PRHQKSMSTSGHLIKVTLPTIKDGS
14:100331910-100331910 C>T	1.0	3713	MELANOMA	-	-	-	-	EML1	uc010tww.2,p.P73S|uc001ygr.3,p.P104S|ENST00000556835,p.P73S|ENST00000555145,p.P91S|uc001ygq.3,p.P104S|NM_004434,p.P104S|ENST00000554479,p.P91S|ENST00000556714,p.P73S|ENST00000334192,p.P104S|ENST00000556947,p.P110S|uc001ygs.3,p.P104S|NM_001008707,p.P104S|ENST00000262233,p.P104S|ENST00000556199,p.P73S|ENST00000327921,p.P73S|uc010avt.1,p.P91S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tww.2	nonsynonymous SNV	exon3	c.C217T	p.P73S	PLRTTVNNGTVLPKKPTGSLPSPSG	PLRTTVNNGTVLSKKPTGSLPSPSG	2.0	10.0	unscreened	-	3713_14:100331910-100331910 C>T_PLRTTVNNGTVLSKKPTGSLPSPSG
14:60193684-60193684 A>G	1.0	3713	MELANOMA	-	-	-	-	RTN1	NM_021136,p.L573P|uc001xen.1,p.L573P|ENST00000267484,p.L573P|uc001xem.1,p.L153P	retained_intron, protein_coding, processed_transcript	uc001xen.1	nonsynonymous SNV	exon3	c.T1718C	p.L573P	NQSPAATKGPGPLGPGAPPPLLFLN	NQSPAATKGPGPPGPGAPPPLLFLN	4.0	9.0	unscreened	-	3713_14:60193684-60193684 A>G_NQSPAATKGPGPPGPGAPPPLLFLN
2:27151166-27151166 G>A	0.0	3713	MELANOMA	-	-	-	-	DPYSL5	uc002rhv.4,p.G215E|uc021vev.1,p.G215E|uc002rhu.4,p.G215E|NM_001253723,p.G215E|ENST00000401478,p.G215E|NM_001253724,p.G215E|ENST00000288699,p.G215E|NM_020134,p.G215E	retained_intron, protein_coding	uc021vev.1	nonsynonymous SNV	exon5	c.G644A	p.G215E	KEALDLGITGPEGIEISRPEELEAE	KEALDLGITGPEEIEISRPEELEAE	1.0	1.0	unscreened	-	3713_2:27151166-27151166 G>A_KEALDLGITGPEEIEISRPEELEAE
6:93979257-93979257 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1721886;OCCURENCE=1(NS)	2	EPHA7	uc003pof.3,p.G524E|uc011eac.2,p.G524E|ENST00000369303,p.G524E|uc003poe.3,p.G524E|NM_001288629,p.G524E|NM_004440,p.G524E	protein_coding	uc011eac.2	nonsynonymous SNV	exon7	c.G1571A	p.G524E	VFQIRAFTAAGYGNYSPRLDVATLE	VFQIRAFTAAGYENYSPRLDVATLE	1.0	6.0	unscreened	-	3713_6:93979257-93979257 C>T_VFQIRAFTAAGYENYSPRLDVATLE
3:4714878-4714878 G>A	1.0	3713	MELANOMA	-	-	-	-	ITPR1	ENST00000456211,p.E740K|ENST00000443694,p.E740K|uc003bqc.3,p.E740K|uc021wsj.1,p.E740K|NM_001099952,p.E755K|ENST00000354582,p.E755K|NM_002222,p.E740K|ENST00000357086,p.E755K|ENST00000302640,p.E740K|uc021wsi.1,p.E755K|NM_001168272,p.E740K|ENST00000423119,p.E755K	retained_intron, protein_coding, processed_transcript	uc021wsj.1	nonsynonymous SNV	exon20	c.G2218A	p.E740K	RMCLDRQYLAINEISGQLDVDLILR	RMCLDRQYLAINKISGQLDVDLILR	4.0	7.0	unscreened	-	3713_3:4714878-4714878 G>A_RMCLDRQYLAINKISGQLDVDLILR
4:178274759-178274759 A>G	1.0	3713	MELANOMA	-	-	-	-	NEIL3	uc003iut.2,p.K446R|NM_018248,p.K446R|ENST00000264596,p.K446R	protein_coding, nonsense_mediated_decay	uc003iut.2	nonsynonymous SNV	exon8	c.A1337G	p.K446R	KKTTNDITQPSSKVNISPTISSESK	KKTTNDITQPSSRVNISPTISSESK	2.0	4.0	-	-	3713_4:178274759-178274759 A>G_KKTTNDITQPSSRVNISPTISSESK
11:75438588-75438588 G>A	0.0	3713	MELANOMA	-	-	-	-	MOGAT2	NM_025098,p.G127S|uc001oww.1,p.G127S|uc010rrv.2,p.G45S|ENST00000525093,p.G127S|ENST00000198801,p.G127S|uc010rru.2,p.G127S|ENST00000526712,p.G45S	protein_coding, nonsense_mediated_decay, TEC	uc010rrv.2	nonsynonymous SNV	exon2	c.G133A	p.G45S	VGAFANLCTESTGFSSIFPGIRPHL	VGAFANLCTESTSFSSIFPGIRPHL	1.0	8.0	unscreened	-	3713_11:75438588-75438588 G>A_VGAFANLCTESTSFSSIFPGIRPHL
14:60041740-60041740 G>A	0.0	3713	MELANOMA	-	-	-	-	CCDC175	uc021rtw.1,p.S55L|NM_001164399,p.S55L|ENST00000281581,p.S55L|ENST00000537690,p.S55L	protein_coding	uc021rtw.1	nonsynonymous SNV	exon2	c.C164T	p.S55L	VEALEQLFVVEQSLQSDYFKCNEEA	VEALEQLFVVEQLLQSDYFKCNEEA	1.0	9.0	unscreened	-	3713_14:60041740-60041740 G>A_VEALEQLFVVEQLLQSDYFKCNEEA
8:77768521-77768521 C>T	0.0	3713	MELANOMA	-	-	ID=COSM229756;OCCURENCE=1(skin)	-	ZFHX4	ENST00000050961,p.P3077S	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000050961	nonsynonymous SNV	exon10	c.C9229T	p.P3077S	PGMNGPSSLPGFPQNSNIASGMLGF	PGMNGPSSLPGFSQNSNIASGMLGF	1.0	9.0	unscreened	-	3713_8:77768521-77768521 C>T_PGMNGPSSLPGFSQNSNIASGMLGF
X:152482383-152482383 G>A	0.0	3713	MELANOMA	-	-	-	-	MAGEA1	ENST00000356661,p.P210S|uc004fhf.2,p.P210S|NM_004988,p.P210S|uc022chs.1,p.P210S	protein_coding	uc022chs.1	nonsynonymous SNV	exon1	c.C628T	p.P210S	VLVMIAMEGGHAPEEEIWEELSVME	VLVMIAMEGGHASEEEIWEELSVME	1.0	10.0	unscreened	-	3713_X:152482383-152482383 G>A_VLVMIAMEGGHASEEEIWEELSVME
9:117797-117797 G>A	0.0	3713	MELANOMA	-	-	-	-	FOXD4	uc003zfz.4,p.S108L|NM_207305,p.S108L|ENST00000382500,p.S108L	protein_coding	uc003zfz.4	nonsynonymous SNV	exon1	c.C323T	p.S108L	SEDARQPAKPPSSYIALITMAILQS	SEDARQPAKPPSLYIALITMAILQS	1.0	1.0	unscreened	-	3713_9:117797-117797 G>A_SEDARQPAKPPSLYIALITMAILQS
17:6980112-6980112 C>T	0.0	3713	MELANOMA	-	-	-	-	CLEC10A	uc002gek.3,p.E98K|uc002gej.3,p.E98K|ENST00000576617,p.E98K|ENST00000416562,p.E98K|NM_006344,p.E98K|ENST00000571664,p.E98K|uc010clv.2,p.E98K|NM_182906,p.E98K|ENST00000254868,p.E98K	retained_intron, protein_coding	uc010clv.2	nonsynonymous SNV	exon5	c.G292A	p.E98K	EIQALTSQGSSLEETIASLKAEVEG	EIQALTSQGSSLKETIASLKAEVEG	5.0	3.0	unscreened	-	3713_17:6980112-6980112 C>T_EIQALTSQGSSLKETIASLKAEVEG
19:9013908-9013908 G>A	0.0	3713	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.P12828S|NM_024690,p.P12828S|uc002mkp.3,p.P12828S	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon33	c.C38482T	p.P12828S	FTHQTSAPNTSTPGTSTVDLGTSGT	FTHQTSAPNTSTSGTSTVDLGTSGT	1.0	10.0	unscreened	-	3713_19:9013908-9013908 G>A_FTHQTSAPNTSTSGTSTVDLGTSGT
X:83361387-83361387 C>T	0.0	3713	MELANOMA	-	-	-	-	RPS6KA6	uc011mqt.2,p.E451K|NM_014496,p.E451K|ENST00000262752,p.E451K|uc011mqu.2,p.E348K|ENST00000543399,p.E451K|uc004eej.2,p.E451K	protein_coding, processed_transcript	uc011mqu.2	nonsynonymous SNV	exon16	c.G1042A	p.E348K	VCKRCIHATTNMEFAVKIIDKSKRD	VCKRCIHATTNMKFAVKIIDKSKRD	1.0	10.0	unscreened	-	3713_X:83361387-83361387 C>T_VCKRCIHATTNMKFAVKIIDKSKRD
8:110534499-110534499 G>A	0.0	3713	MELANOMA	-	-	-	-	PKHD1L1	ENST00000378402,p.G4039E|uc003yne.3,p.G4039E|ENST00000526472,p.G967E|NM_177531,p.G4039E	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon74	c.G12116A	p.G4039E	QAVILGNISSILGFNISSMSITNPL	QAVILGNISSILEFNISSMSITNPL	1.0	9.0	unscreened	-	3713_8:110534499-110534499 G>A_QAVILGNISSILEFNISSMSITNPL
18:72010828-72010828 G>A	0.0	3713	MELANOMA	-	-	-	-	C18orf63	ENST00000579455,p.S290N|uc002llj.3,p.S290N|NM_001174123,p.S290N	protein_coding	uc002llj.3	nonsynonymous SNV	exon11	c.G869A	p.S290N	FFPRVDSEVVLKSFLSDLKSKLPHI	FFPRVDSEVVLKNFLSDLKSKLPHI	1.0	9.0	unscreened	-	3713_18:72010828-72010828 G>A_FFPRVDSEVVLKNFLSDLKSKLPHI
2:179456174-179456174 C>T	0.0	3713	MELANOMA	-	-	-	-	TTN	uc031rqc.1,p.G20093E|NM_001256850,p.G18452E|NM_003319,p.G11028E|uc021vsz.2,p.G11220E|ENST00000359218,p.G11153E|uc021vta.2,p.G11153E|NM_001267550,p.G20093E|NM_133378,p.G17525E|uc021vsy.2,p.G17525E|ENST00000589042,p.G20093E|ENST00000460472,p.G11028E|NM_133437,p.G11220E|ENST00000591111,p.G18452E|uc031rqd.1,p.G18452E|ENST00000342175,p.G11220E|ENST00000342992,p.G17525E|uc021vtb.2,p.G11028E|NM_133432,p.G11153E	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon254	c.G55355A	p.G18452E	DVKLIEGLVVKAGTTVRFPAIIRGV	DVKLIEGLVVKAETTVRFPAIIRGV	1.0	5.0	unscreened	-	3713_2:179456174-179456174 C>T_DVKLIEGLVVKAETTVRFPAIIRGV
5:31294198-31294198 G>A	0.0	3713	MELANOMA	-	-	-	-	CDH6	ENST00000514738,p.E65K|ENST00000265071,p.E120K|NM_004932,p.E120K|uc003jhe.2,p.E120K|uc003jhd.2,p.E120K	retained_intron, protein_coding	uc003jhe.2	nonsynonymous SNV	exon3	c.G358A	p.E120K	GDIQATKRLDREEKPVYILRAQAIN	GDIQATKRLDREKKPVYILRAQAIN	1.0	10.0	unscreened	-	3713_5:31294198-31294198 G>A_GDIQATKRLDREKKPVYILRAQAIN
16:72094686-72094686 G>A	0.0	3713	MELANOMA	-	-	-	-	HP	ENST00000355906,p.G373E|uc010cgm.3,p.G314E|NM_005143,p.G373E|ENST00000570083,p.G314E|uc002fbr.4,p.G373E|NM_001126102,p.G314E|uc002fbt.5,p.G328E|ENST00000565574,p.G314E|uc021tld.1,p.G314E|ENST00000398131,p.G314E	retained_intron, protein_coding	uc021tld.1	nonsynonymous SNV	exon5	c.G941A	p.G314E	VHDLEEDTWYATGILSFDKSCAVAE	VHDLEEDTWYATEILSFDKSCAVAE	1.0	9.0	unscreened	-	3713_16:72094686-72094686 G>A_VHDLEEDTWYATEILSFDKSCAVAE
20:30418850-30418850 G>T	0.0	3713	MELANOMA	-	-	-	-	MYLK2	uc002wws.2,p.G61W|ENST00000375985,p.G444W|uc002wwq.2,p.G444W|NM_033118,p.G444W|ENST00000375994,p.G444W	protein_coding, processed_transcript	uc002wws.2	nonsynonymous SNV	exon3	c.G181T	p.G61W	RYNPNEKLKVNFGTPEFLSPEVVNY	RYNPNEKLKVNFWTPEFLSPEVVNY	1.0	6.0	unscreened	-	3713_20:30418850-30418850 G>T_RYNPNEKLKVNFWTPEFLSPEVVNY
1:200880703-200880703 C>T	0.0	3713	MELANOMA	-	-	-	-	C1orf106	uc010ppm.2,p.P361L|NM_018265,p.P460L|uc001gvo.4,p.P460L|ENST00000413687,p.P361L|NM_001142569,p.P361L|ENST00000367342,p.P446L	protein_coding, processed_transcript	uc010ppm.2	nonsynonymous SNV	exon9	c.C1082T	p.P361L	PDSCFPATKPPLPHAACHSCSEDSG	PDSCFPATKPPLLHAACHSCSEDSG	1.0	8.0	unscreened	-	3713_1:200880703-200880703 C>T_PDSCFPATKPPLLHAACHSCSEDSG
3:123049767-123049767 C>T	0.0	3713	MELANOMA	-	-	-	-	ADCY5	ENST00000462833,p.E539K|uc003egi.1,p.E98K|uc003egg.2,p.E172K|NM_183357,p.E539K|uc021xdd.1,p.E189K|uc003egh.2,p.E539K|NM_001199642,p.E189K|ENST00000491190,p.E172K|ENST00000309879,p.E189K|ENST00000466617,p.E98K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xdd.1	nonsynonymous SNV	exon5	c.G565A	p.E189K	PEARADHAHCCVEMGMDMIEAISLV	PEARADHAHCCVKMGMDMIEAISLV	1.0	8.0	unscreened	-	3713_3:123049767-123049767 C>T_PEARADHAHCCVKMGMDMIEAISLV
2:241662052-241662052 G>T	0.0	3713	MELANOMA	-	-	-	-	KIF1A	uc010fzk.3,p.L1496M|ENST00000320389,p.L1395M|NM_001244008,p.L1496M|uc031rsb.1,p.L1395M|uc002vzx.3,p.L122M|ENST00000498729,p.L1496M|NM_004321,p.L1395M|uc002vzw.3,p.L56M	retained_intron, protein_coding	uc031rsb.1	nonsynonymous SNV	exon40	c.C4183A	p.L1395M	SLLQEVEKTRHYLLLREKLETAQRP	SLLQEVEKTRHYMLLREKLETAQRP	1.0	3.0	unscreened	-	3713_2:241662052-241662052 G>T_SLLQEVEKTRHYMLLREKLETAQRP
6:117127855-117127855 G>A	0.0	3713	MELANOMA	-	-	-	-	GPRC6A	uc003pxj.1,p.S338F|ENST00000368549,p.S338F|NM_148963,p.S338F|NM_001286355,p.S338F|uc003pxl.1,p.S338F|ENST00000310357,p.S338F	protein_coding	uc003pxl.1	nonsynonymous SNV	exon3	c.C1013T	p.S338F	FAFRRGNISSFHSFLQNLHLLPSDS	FAFRRGNISSFHFFLQNLHLLPSDS	1.0	7.0	unscreened	-	3713_6:117127855-117127855 G>A_FAFRRGNISSFHFFLQNLHLLPSDS
11:124757635-124757635 T>A	1.0	3713	MELANOMA	-	-	-	-	ROBO4	uc010sas.2,p.S539C|ENST00000533054,p.S539C|NM_001301088,p.S539C|uc001qbh.2,p.S574C|uc001qbg.3,p.S684C|NM_019055,p.S684C|uc001qbi.3,p.S242C|ENST00000306534,p.S684C	retained_intron, protein_coding, processed_transcript	uc010sas.2	nonsynonymous SNV	exon13	c.A1615T	p.S539C	ELGNRGSKNLSQSPGAVPQALVAWR	ELGNRGSKNLSQCPGAVPQALVAWR	2.0	9.0	unscreened	-	3713_11:124757635-124757635 T>A_ELGNRGSKNLSQCPGAVPQALVAWR
19:15164362-15164362 G>A	0.0	3713	MELANOMA	-	-	-	-	CASP14	ENST00000221740,p.E33K|NM_012114,p.E33K|ENST00000427043,p.E33K|uc010dzv.2,p.E33K	retained_intron, protein_coding	uc010dzv.2	nonsynonymous SNV	exon3	c.G97A	p.E33K	LILCVTKAREGSEEDLDALEHMFRQ	LILCVTKAREGSKEDLDALEHMFRQ	1.0	10.0	unscreened	-	3713_19:15164362-15164362 G>A_LILCVTKAREGSKEDLDALEHMFRQ
11:18955719-18955719 C>T	0.0	3713	MELANOMA	-	-	-	-	MRGPRX1	NM_147199,p.G205R|ENST00000302797,p.G205R|uc001mpg.3,p.G205R	protein_coding, processed_transcript	uc001mpg.3	nonsynonymous SNV	exon1	c.G613A	p.G205R	GSSLVLLIRILCGSRKIPLTRLYVT	GSSLVLLIRILCRSRKIPLTRLYVT	1.0	10.0	unscreened	-	3713_11:18955719-18955719 C>T_GSSLVLLIRILCRSRKIPLTRLYVT
9:35548146-35548146 C>T	1.0	3713	MELANOMA	-	-	-	-	RUSC2	ENST00000361226,p.S543F|uc003zwx.4,p.S543F|NM_014806,p.S543F|NM_001135999,p.S543F|ENST00000455600,p.S543F|uc003zww.3,p.S543F	protein_coding, processed_transcript	uc003zwx.4	nonsynonymous SNV	exon2	c.C1628T	p.S543F	MAGPGSPPRRVTSFAELAKGRKKTG	MAGPGSPPRRVTFFAELAKGRKKTG	5.0	3.0	-	-	3713_9:35548146-35548146 C>T_MAGPGSPPRRVTFFAELAKGRKKTG
2:87013080-87013080 G>A	0.0	3713	MELANOMA	-	-	-	-	CD8A	ENST00000538832,p.S265L|ENST00000352580,p.S187L|ENST00000456996,p.S187L|NM_001768,p.S224L|uc002srv.3,p.S224L|NM_001145873,p.S224L|ENST00000283635,p.S224L|ENST00000409511,p.S224L|uc002srt.3,p.S224L|ENST00000409781,p.S187L|uc002sru.3,p.S187L|NM_171827,p.S187L|uc010ytn.2,p.S265L	protein_coding	uc010ytn.2	nonsynonymous SNV	exon7	c.C794T	p.S265L	RRVCKCPRPVVKSGDKPSLSARYV	RRVCKCPRPVVKLGDKPSLSARYV	8.0	4.0	unscreened	-	3713_2:87013080-87013080 G>A_RRVCKCPRPVVKLGDKPSLSARYV
6:2623791-2623791 G>A	0.0	3713	MELANOMA	-	-	-	-	C6orf195	NM_152554,p.S89F|ENST00000296847,p.S89F|uc003mtw.2,p.S89F|uc021ykp.1,p.S89F	protein_coding	uc021ykp.1	nonsynonymous SNV	exon1	c.C266T	p.S89F	PHCGCCQAWSISSFTFTGPTPFKIN	PHCGCCQAWSISFFTFTGPTPFKIN	1.0	1.0	unscreened	-	3713_6:2623791-2623791 G>A_PHCGCCQAWSISFFTFTGPTPFKIN
13:30014159-30014159 G>A	0.0	3713	MELANOMA	-	-	-	-	MTUS2	uc001usm.4,p.E32K|NM_001033602,p.E1063K|ENST00000431530,p.E1063K|uc001usl.4,p.E1063K|ENST00000380808,p.E32K|NM_015233,p.E32K	retained_intron, protein_coding, processed_transcript	uc001usm.4	nonsynonymous SNV	exon2	c.G94A	p.E32K	ESALVKEKELSIELANIRDEVAFHT	ESALVKEKELSIKLANIRDEVAFHT	1.0	5.0	unscreened	-	3713_13:30014159-30014159 G>A_ESALVKEKELSIKLANIRDEVAFHT
19:1080903-1080903 G>A	0.0	3713	MELANOMA	-	-	-	-	HMHA1	ENST00000539243,p.G693D|NM_001258328,p.G693D|ENST00000543365,p.G560D|uc002lrb.1,p.G560D|uc002lqz.2,p.G677D|ENST00000590577,p.G312D|uc010xge.2,p.G545D|ENST00000536472,p.G545D|ENST00000586866,p.G681D|NM_001282334,p.G312D|ENST00000313093,p.G677D|uc002lra.1,p.G517D|ENST00000590214,p.G704D|uc002lrc.2,p.G312D|uc010xgd.2,p.G693D|NM_012292,p.G677D|NM_001282335,p.G560D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xge.2	nonsynonymous SNV	exon15	c.G1634A	p.G545D	AGASAFEQADLNGMTPELPVAVPSG	AGASAFEQADLNDMTPELPVAVPSG	7.0	2.0	unscreened	-	3713_19:1080903-1080903 G>A_AGASAFEQADLNDMTPELPVAVPSG
7:45222913-45222913 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1698651;OCCURENCE=1(skin)	-	RAMP3	ENST00000481345,p.E117K|ENST00000496212,p.E117K|NM_005856,p.E117K|uc003tnb.3,p.E117K|ENST00000242249,p.E117K	protein_coding	uc003tnb.3	nonsynonymous SNV	exon3	c.G349A	p.E117K	TVDRVHLEDPPDEVLIPLIVIPVVL	TVDRVHLEDPPDKVLIPLIVIPVVL	3.0	1.0	unscreened	-	3713_7:45222913-45222913 G>A_TVDRVHLEDPPDKVLIPLIVIPVVL
9:43800955-43800955 C>T	0.0	3713	MELANOMA	-	-	-	-	CNTNAP3B	uc004ada.2,p.A161V|ENST00000377564,p.A161V|ENST00000479351,p.A161V|ENST00000276974,p.A161V|NM_001201380,p.A161V	protein_coding, processed_transcript, nonsense_mediated_decay	uc004ada.2	nonsynonymous SNV	exon4	c.C482T	p.A161V	PFEARFLRFLPLAWNPRGRIGMRIE	PFEARFLRFLPLVWNPRGRIGMRIE	1.0	2.0	unscreened	-	3713_9:43800955-43800955 C>T_PFEARFLRFLPLVWNPRGRIGMRIE
11:89608817-89608817 G>T	0.0	3713	MELANOMA	-	-	-	-	TRIM64B	NM_001164397,p.H123Q|ENST00000329862,p.H123Q|uc021qoo.1,p.H123Q	protein_coding	uc021qoo.1	nonsynonymous SNV	exon1	c.C369A	p.H123Q	CGPCSESPEHMAHSHSPIGWAAEEC	CGPCSESPEHMAQSHSPIGWAAEEC	1.0	1.0	unscreened	-	3713_11:89608817-89608817 G>T_CGPCSESPEHMAQSHSPIGWAAEEC
17:27064506-27064571 CGACGTGGGCAGTGTCCGCATGCGGAGGCCTGTGCAGGGACAGCGAGCGGTCCTGGGCGGCAGGGT>-	0.0	3713	MELANOMA	-	-	-	-	NEK8	uc002hcp.3,p.267_276del|ENST00000268766,p.267_276del|NM_178170,p.267_276del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002hcp.3	nonframeshift deletion	exon5	c.801_827del	p.267_276del	QPLCIRALLNLHTDVGSVRMRRAEK	QPLCIRALLNLHTAEKSVAPSNTGS	2.0	1.0	unscreened	-	3713_17:27064506-27064571 CGACGTGGGCAGTGTCCGCATGCGGAGGCCTGTGCAGGGACAGCGAGCGGTCCTGGGCGGCAGGGT>-_QPLCIRALLNLHTAEKSVAPSNTGS
10:15761739-15761739 C>T	0.0	3713	MELANOMA	-	-	-	-	ITGA8	uc001ioc.1,p.G11E|NM_001291494,p.G11E|ENST00000378076,p.G11E|uc010qcb.1,p.G11E|NM_003638,p.G11E	protein_coding, processed_transcript	uc010qcb.1	nonsynonymous SNV	exon1	c.G32A	p.G11E	MSPGASRGPRGSQAPLIAPLCCA	MSPGASRGPRESQAPLIAPLCCA	2.0	1.0	unscreened	-	3713_10:15761739-15761739 C>T_MSPGASRGPRESQAPLIAPLCCA
X:101624624-101624624 C>T	0.0	3713	MELANOMA	-	-	-	-	NXF2,NXF2B	uc022cav.1,p.M89I|uc004ejb.4,p.M89I|ENST00000457521,p.M89I|NM_001099686,p.M89I|ENST00000372750,p.M89I|NM_022053,p.M89I|ENST00000412230,p.M89I|ENST00000372749,p.M89I|uc004eiy.4,p.M89I	protein_coding, processed_transcript	uc022cav.1	nonsynonymous SNV	exon9	c.G267A	p.M89I	RHTPYSIRCERRMKWHSEDEIRITT	RHTPYSIRCERRIKWHSEDEIRITT	1.0	1.0	unscreened	-	3713_X:101624624-101624624 C>T_RHTPYSIRCERRIKWHSEDEIRITT
4:173804029-173804029 G>A	0.0	3713	MELANOMA	-	-	-	-	GALNTL6	ENST00000508122,p.G321R|NM_001034845,p.G338R|ENST00000506823,p.G338R|uc003isv.3,p.G338R	protein_coding, processed_transcript	uc003isv.3	nonsynonymous SNV	exon8	c.G1012A	p.G338R	ELGGYDPGLEIWGGEQYEISFKVWM	ELGGYDPGLEIWRGEQYEISFKVWM	1.0	5.0	unscreened	-	3713_4:173804029-173804029 G>A_ELGGYDPGLEIWRGEQYEISFKVWM
2:149226629-149226629 C>T	0.0	3713	MELANOMA	-	-	-	-	MBD5	uc002twm.4,p.P373S|ENST00000407073,p.P373S|NM_018328,p.P373S|ENST00000404807,p.P373S	retained_intron, protein_coding, processed_transcript	uc002twm.4	nonsynonymous SNV	exon9	c.C1117T	p.P373S	LDPIPSKPVNQNPVIINPTSFHSNV	LDPIPSKPVNQNSVIINPTSFHSNV	5.0	5.0	unscreened	-	3713_2:149226629-149226629 C>T_LDPIPSKPVNQNSVIINPTSFHSNV
10:124392380-124392380 C>T	0.0	3713	MELANOMA	-	-	-	-	DMBT1	uc009xzz.1,p.P1995L	protein_coding	uc009xzz.1	nonsynonymous SNV	exon48	c.C5984T	p.P1995L	VICSGNHLSTPAPFLNITRPNNYSC	VICSGNHLSTPALFLNITRPNNYSC	1.0	4.0	unscreened	-	3713_10:124392380-124392380 C>T_VICSGNHLSTPALFLNITRPNNYSC
5:140188687-140188687 G>A	0.0	3713	MELANOMA	-	-	-	-	PCDHA4	uc011daa.2,p.E639K|ENST00000356878,p.E639K|NM_018907,p.E639K|ENST00000530339,p.E639K|uc003lhh.1,p.E639K|uc003lhi.2,p.E639K|NM_031500,p.E639K|ENST00000512229,p.E639K	protein_coding	uc011daa.2	nonsynonymous SNV	exon1	c.G1915A	p.E639K	YTGEISTTRALDETDAPRHRLLVLV	YTGEISTTRALDKTDAPRHRLLVLV	1.0	9.0	unscreened	-	3713_5:140188687-140188687 G>A_YTGEISTTRALDKTDAPRHRLLVLV
8:110984919-110984919 C>T	0.0	3713	MELANOMA	-	-	-	-	KCNV1	ENST00000524391,p.G187R|uc010mcw.3,p.G187R|uc003ynr.4,p.G187R|NM_014379,p.G187R|ENST00000297404,p.G187R	protein_coding	uc010mcw.3	nonsynonymous SNV	exon3	c.G559A	p.G187R	ESQHESEQDFSQGPCPTVRQKLWNI	ESQHESEQDFSQRPCPTVRQKLWNI	1.0	2.0	unscreened	-	3713_8:110984919-110984919 C>T_ESQHESEQDFSQRPCPTVRQKLWNI
10:63445871-63445871 C>T	0.0	3713	MELANOMA	-	-	-	-	C10orf107	ENST00000330194,p.S48L|uc010qik.2,p.S48L|NM_173554,p.S48L	protein_coding	uc010qik.2	nonsynonymous SNV	exon3	c.C143T	p.S48L	LGEVMAEIGPTHSQKSEDWNIFDVK	LGEVMAEIGPTHLQKSEDWNIFDVK	1.0	5.0	unscreened	-	3713_10:63445871-63445871 C>T_LGEVMAEIGPTHLQKSEDWNIFDVK
6:29556203-29556203 C>T	0.0	3713	MELANOMA	-	-	-	-	OR2H2	ENST00000383640,p.T161I|NM_007160,p.T161I|uc003nmr.1,p.T161I	protein_coding	uc003nmr.1	nonsynonymous SNV	exon1	c.C482T	p.T161I	IGLVESVVQTPSTLHLPFCPDRQVD	IGLVESVVQTPSILHLPFCPDRQVD	1.0	2.0	unscreened	-	3713_6:29556203-29556203 C>T_IGLVESVVQTPSILHLPFCPDRQVD
5:42713597-42713597 T>C	0.0	3713	MELANOMA	-	-	-	-	GHR	NM_001242462,p.V284A|uc021xyc.1,p.V284A	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xyc.1	nonsynonymous SNV	exon7	c.T851C	p.V284A	IFGIFGLTVMLFVFLFSKQQRKEN	IFGIFGLTVMLFAFLFSKQQRKEN	1.0	10.0	unscreened	-	3713_5:42713597-42713597 T>C_IFGIFGLTVMLFAFLFSKQQRKEN
22:21384146-21384146 C>T	0.0	3713	MELANOMA	-	-	-	-	SLC7A4	ENST00000403586,p.G493S|uc002zue.3,p.G493S|ENST00000382932,p.G493S|NM_004173,p.G493S|uc002zud.3,p.G493S	protein_coding	uc002zue.3	nonsynonymous SNV	exon3	c.G1477A	p.G493S	ALGVMLASAITIGCVLVFGNSTLHL	ALGVMLASAITISCVLVFGNSTLHL	1.0	3.0	unscreened	-	3713_22:21384146-21384146 C>T_ALGVMLASAITISCVLVFGNSTLHL
3:195513076-195513076 C>G	0.0	3713	MELANOMA	-	-	-	2	MUC4	ENST00000475231,p.R1792P|ENST00000480843,p.R1792P|ENST00000479406,p.R1792P|ENST00000478156,p.R1792P|ENST00000477086,p.R1792P|ENST00000463781,p.R1792P|uc021xjp.1,p.R1792P|ENST00000466475,p.R1792P|ENST00000462323,p.R1792P|NM_018406,p.R1792P|ENST00000477756,p.R1792P|ENST00000470451,p.R1792P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G5375C	p.R1792P	TGLSSASTDDTTRLPVTDVSSASTG	TGLSSASTDDTTPLPVTDVSSASTG	1.0	1.0	unscreened	-	3713_3:195513076-195513076 C>G_TGLSSASTDDTTPLPVTDVSSASTG
1:223567272-223567272 G>A	0.0	3713	MELANOMA	-	-	-	-	CCDC185	uc001hoa.2,p.G152E|ENST00000366875,p.G152E|NM_152610,p.G152E	protein_coding	uc001hoa.2	nonsynonymous SNV	exon1	c.G455A	p.G152E	LAQGDSPPPCPGGAGTPLSGTFRVE	LAQGDSPPPCPGEAGTPLSGTFRVE	1.0	3.0	unscreened	-	3713_1:223567272-223567272 G>A_LAQGDSPPPCPGEAGTPLSGTFRVE
2:241979800-241979800 G>A	1.0	3713	MELANOMA	-	-	-	-	SNED1	ENST00000420591,p.E53K	retained_intron, protein_coding, processed_transcript	ENST00000420591	nonsynonymous SNV	exon2	c.G157A	p.E53K	VDLVGNYTCLCAEPFKGLRCETVVT	VDLVGNYTCLCAKPFKGLRCETVVT	5.0	6.0	unscreened	-	3713_2:241979800-241979800 G>A_VDLVGNYTCLCAKPFKGLRCETVVT
10:61832883-61832883 C>T	0.0	3713	MELANOMA	-	-	-	-	ANK3	NM_020987,p.E2586K|uc001jky.3,p.E2586K|ENST00000280772,p.E2586K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jky.3	nonsynonymous SNV	exon37	c.G7756A	p.E2586K	EDRVDRTVKEAEEKLTEVSQFFRDK	EDRVDRTVKEAEKKLTEVSQFFRDK	4.0	6.0	unscreened	-	3713_10:61832883-61832883 C>T_EDRVDRTVKEAEKKLTEVSQFFRDK
1:144955253-144955253 C>T	1.0	3713	MELANOMA	-	-	-	1	PDE4DIP	ENST00000530740,p.E198K|ENST00000369359,p.E198K|uc001emg.2,p.E61K|ENST00000369354,p.E61K|ENST00000534536,p.E64K|ENST00000531369,p.E128K|NM_001002810,p.E61K|uc021ouh.1,p.E61K|uc001emd.2,p.E61K|NM_001198832,p.E127K|uc021ouj.1,p.E29K|uc001emc.2,p.E61K|NM_014644,p.E61K|uc021oui.1,p.E64K|NM_001195261,p.E64K|NM_022359,p.E198K|ENST00000369351,p.E61K|NM_001198834,p.E61K|NM_001195260,p.E29K|ENST00000313382,p.E127K|uc001elw.4,p.E61K|ENST00000369347,p.E61K|NM_001002812,p.E61K|ENST00000369356,p.E61K|ENST00000369348,p.E198K|ENST00000369349,p.E61K|uc001emh.3,p.E198K|uc001elx.4,p.E127K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ouj.1	nonsynonymous SNV	exon3	c.G85A	p.E29K	IELKVEVESLKRELQDKKQHLDKTW	IELKVEVESLKRKLQDKKQHLDKTW	10.0	3.0	-	-	3713_1:144955253-144955253 C>T_IELKVEVESLKRKLQDKKQHLDKTW
5:176323117-176323117 G>A	0.0	3713	MELANOMA	-	-	-	-	HK3	NM_002115,p.T15I|ENST00000292432,p.T15I|uc003mfa.3,p.T15I	retained_intron, protein_coding, nonsense_mediated_decay	uc003mfa.3	nonsynonymous SNV	exon2	c.C44T	p.T15I	SIGSSGLRQGEETLSCSEEGLPGPS	SIGSSGLRQGEEILSCSEEGLPGPS	5.0	10.0	unscreened	-	3713_5:176323117-176323117 G>A_SIGSSGLRQGEEILSCSEEGLPGPS
10:18690881-18690881 C>T	0.0	3713	MELANOMA	-	-	-	-	CACNB2	ENST00000377319,p.P26L|uc001ipw.2,p.P26L|uc001ipx.2,p.P26L|ENST00000396576,p.P26L|NM_000724,p.P26L	retained_intron, protein_coding, processed_transcript	uc001ipx.2	nonsynonymous SNV	exon2	c.C77T	p.P26L	VSYGSADSYTSRPSDSDVSLEEDRE	VSYGSADSYTSRLSDSDVSLEEDRE	1.0	4.0	unscreened	-	3713_10:18690881-18690881 C>T_VSYGSADSYTSRLSDSDVSLEEDRE
10:18690881-18690881 C>T	0.0	3713	MELANOMA	-	-	-	-	CACNB2	NM_201597,p.P81L|NM_201571,p.P53L|ENST00000352115,p.P81L|ENST00000282343,p.P53L|uc001ipr.2,p.P81L|uc009xjz.1,p.P81L|uc001ips.2,p.P81L|uc001ipv.3,p.P53L|uc001ipu.3,p.P53L|NM_201596,p.P81L|NM_001167945,p.P53L|ENST00000324631,p.P81L|ENST00000377331,p.P53L|NM_201593,p.P81L|ENST00000377328,p.P81L|NM_201572,p.P53L|uc001ipt.2,p.P81L|uc009xka.2,p.P53L	retained_intron, protein_coding, processed_transcript	uc009xka.2	nonsynonymous SNV	exon3	c.C158T	p.P53L	VRQGSADSYTSRPSDSDVSLEEDRE	VRQGSADSYTSRLSDSDVSLEEDRE	1.0	4.0	unscreened	-	3713_10:18690881-18690881 C>T_VRQGSADSYTSRLSDSDVSLEEDRE
10:18690881-18690881 C>T	0.0	3713	MELANOMA	-	-	-	-	CACNB2	ENST00000377329,p.P27L|uc001ipy.2,p.P27L|uc009xkb.1,p.P27L|uc010qcm.2,p.P27L|NM_201590,p.P27L|uc001ipz.2,p.P27L	retained_intron, protein_coding, processed_transcript	uc010qcm.2	nonsynonymous SNV	exon2	c.C80T	p.P27L	IPGGSADSYTSRPSDSDVSLEEDRE	IPGGSADSYTSRLSDSDVSLEEDRE	1.0	4.0	unscreened	-	3713_10:18690881-18690881 C>T_IPGGSADSYTSRLSDSDVSLEEDRE
10:18690881-18690881 C>T	0.0	3713	MELANOMA	-	-	-	-	CACNB2	ENST00000377315,p.P33L|NM_201570,p.P33L|uc001iqa.2,p.P33L|uc010qco.1,p.P33L|uc010qcn.2,p.P33L	retained_intron, protein_coding, processed_transcript	uc010qco.1	nonsynonymous SNV	exon2	c.C98T	p.P33L	DICGSADSYTSRPSDSDVSLEEDRE	DICGSADSYTSRLSDSDVSLEEDRE	1.0	4.0	unscreened	-	3713_10:18690881-18690881 C>T_DICGSADSYTSRLSDSDVSLEEDRE
10:19569135-19569135 C>T	0.0	3713	MELANOMA	-	-	-	-	MALRD1	ENST00000377266,p.S389L|NM_001142308,p.S1080L|ENST00000454679,p.S376L	protein_coding, processed_transcript	NM_001142308	nonsynonymous SNV	exon20	c.C3239T	p.S1080L	QKCDFKYDCPDKSDEASCVMEVCSF	QKCDFKYDCPDKLDEASCVMEVCSF	1.0	4.0	unscreened	-	3713_10:19569135-19569135 C>T_QKCDFKYDCPDKLDEASCVMEVCSF
10:34671827-34671827 G>A	1.0	3713	MELANOMA	-	-	-	-	PARD3	uc001ixp.2,p.A347V|uc010qep.2,p.A303V|ENST00000545693,p.A347V|uc010qej.2,p.A347V|ENST00000350537,p.A347V|uc001ixo.2,p.A77V|NM_019619,p.A347V|ENST00000346874,p.A347V|NM_001184793,p.A347V|ENST00000374790,p.A303V|uc010qel.2,p.A347V|uc010qen.2,p.A347V|ENST00000544292,p.A77V|ENST00000340077,p.A347V|ENST00000545260,p.A303V|NM_001184790,p.A303V|ENST00000374773,p.A347V|uc010qeo.2,p.A347V|ENST00000374776,p.A347V|ENST00000374788,p.A347V|ENST00000374789,p.A347V|NM_001184785,p.A347V|uc001ixu.2,p.A303V|uc010qeq.2,p.A303V|uc001ixq.2,p.A347V|ENST00000374794,p.A303V|NM_001184791,p.A303V|NM_001184794,p.A347V|uc001ixr.2,p.A347V|uc010qek.2,p.A347V|NM_001184788,p.A347V|NM_001184792,p.A347V|NM_001184787,p.A347V|uc001ixt.1,p.A168V|NM_001184786,p.A347V|uc010qem.2,p.A347V|NM_001184789,p.A347V	protein_coding, processed_transcript	uc010qeq.2	nonsynonymous SNV	exon8	c.C908T	p.A303V	RRFEQAQHMFRQAMRTPIIWFHVVP	RRFEQAQHMFRQVMRTPIIWFHVVP	4.0	5.0	-	-	3713_10:34671827-34671827 G>A_RRFEQAQHMFRQVMRTPIIWFHVVP
7:141750076-141750076 G>A	0.0	3713	MELANOMA	-	-	-	-	MGAM	ENST00000549489,p.V877I|NM_004668,p.V877I|uc003vwy.3,p.V877I|ENST00000475668,p.V877I	retained_intron, protein_coding, processed_transcript	uc003vwy.3	nonsynonymous SNV	exon23	c.G2629A	p.V877I	VANKVYLLCEFSVTQNRLEVNISQS	VANKVYLLCEFSITQNRLEVNISQS	1.0	4.0	unscreened	-	3713_7:141750076-141750076 G>A_VANKVYLLCEFSITQNRLEVNISQS
6:35747230-35747230 G>A	0.0	3713	MELANOMA	-	-	-	-	CLPSL2	NM_001286550,p.E129K|uc003olc.1,p.E129K|ENST00000360454,p.E129K	protein_coding, processed_transcript	uc003olc.1	nonsynonymous SNV	exon4	c.G385A	p.E129K	LDVFPPVPYDLEEDAGWSLLPWGHR	LDVFPPVPYDLEKDAGWSLLPWGHR	1.0	1.0	unscreened	-	3713_6:35747230-35747230 G>A_LDVFPPVPYDLEKDAGWSLLPWGHR
16:58438421-58438421 C>T	1.0	3713	MELANOMA	-	-	ID=COSM3818177,COSM3818178;OCCURENCE=1(breast)	-	GINS3	uc002enh.4,p.R147C|uc010cdj.3,p.R186C|ENST00000426538,p.R186C|NM_022770,p.R147C|ENST00000318129,p.R147C|NM_001126129,p.R186C	retained_intron, protein_coding, processed_transcript	uc010cdj.3	nonsynonymous SNV	exon4	c.C556T	p.R186C	SQSLLQTFIGRFRRIMDSSQNAYNE	SQSLLQTFIGRFCRIMDSSQNAYNE	4.0	2.0	-	-	3713_16:58438421-58438421 C>T_SQSLLQTFIGRFCRIMDSSQNAYNE
9:27950374-27950374 C>T	0.0	3713	MELANOMA	-	-	-	-	LINGO2	ENST00000379992,p.G99E|NM_152570,p.G99E|uc003zqu.2,p.G99E|ENST00000308675,p.G99E|uc022bfc.1,p.G99E|uc003zqv.2,p.G99E|uc010mjf.2,p.G99E|NM_001258282,p.G99E	protein_coding, processed_transcript	uc022bfc.1	nonsynonymous SNV	exon1	c.G296A	p.G99E	DLSDNIIANVEPGAFNNLFNLRSLR	DLSDNIIANVEPEAFNNLFNLRSLR	1.0	8.0	unscreened	-	3713_9:27950374-27950374 C>T_DLSDNIIANVEPEAFNNLFNLRSLR
12:7519861-7519861 C>A	0.0	3713	MELANOMA	-	-	-	-	CD163L1	uc010sge.2,p.R1427I|uc001qsy.3,p.R1417I|NM_001297650,p.R1427I|ENST00000313599,p.R1417I|ENST00000416109,p.R1427I|NM_174941,p.R1417I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sge.2	nonsynonymous SNV	exon18	c.G4280T	p.R1427I	ENLFHEMETCLKREDPHGTRTSDDT	ENLFHEMETCLKIEDPHGTRTSDDT	1.0	7.0	unscreened	-	3713_12:7519861-7519861 C>A_ENLFHEMETCLKIEDPHGTRTSDDT
2:179436405-179436405 C>T	0.0	3713	MELANOMA	-	-	-	-	TTN	ENST00000591111,p.M23177I|NM_133432,p.M15878I|NM_133437,p.M15945I|uc031rqc.1,p.M24818I|NM_133378,p.M22250I|ENST00000589042,p.M24818I|uc021vsy.2,p.M22250I|ENST00000460472,p.M15753I|ENST00000342992,p.M22250I|NM_001267550,p.M24818I|ENST00000359218,p.M15878I|ENST00000342175,p.M15945I|NM_003319,p.M15753I|uc021vsz.2,p.M15945I|uc021vta.2,p.M15878I|uc021vtb.2,p.M15753I|uc031rqd.1,p.M23177I|NM_001256850,p.M23177I	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon276	c.G69531A	p.M23177I	LDKPGPPTGPVKMDEVTADSITLSW	LDKPGPPTGPVKIDEVTADSITLSW	1.0	10.0	unscreened	-	3713_2:179436405-179436405 C>T_LDKPGPPTGPVKIDEVTADSITLSW
8:95182742-95182742 C>T	0.0	3713	MELANOMA	-	-	ID=COSM606823;OCCURENCE=1(skin),1(endometrium),1(lung)	2	CDH17	uc003ygh.2,p.G317R|ENST00000450165,p.G317R|NM_001144663,p.G317R|ENST00000027335,p.G317R|uc011lgp.1,p.G317R|NM_004063,p.G317R	protein_coding, nonsense_mediated_decay	uc011lgp.1	nonsynonymous SNV	exon9	c.G949A	p.G317R	AYVFYAVAKDEYGKPLSYPLEIHVK	AYVFYAVAKDEYRKPLSYPLEIHVK	1.0	3.0	unscreened	-	3713_8:95182742-95182742 C>T_AYVFYAVAKDEYRKPLSYPLEIHVK
9:43624960-43624960 G>A	0.0	3713	MELANOMA	-	-	-	-	SPATA31A6	NM_001145196,p.P1243S|ENST00000332857,p.P1243S|uc011lrb.2,p.P1243S	protein_coding, processed_transcript	uc011lrb.2	nonsynonymous SNV	exon4	c.C3727T	p.P1243S	HKQKFQAPVCGFPCNHRHLFYSEHG	HKQKFQAPVCGFSCNHRHLFYSEHG	1.0	6.0	unscreened	-	3713_9:43624960-43624960 G>A_HKQKFQAPVCGFSCNHRHLFYSEHG
1:109260494-109260494 C>T	0.0	3713	MELANOMA	-	-	-	-	FNDC7	uc001dvx.3,p.L60F|NM_001144937,p.L60F|ENST00000370017,p.L60F|ENST00000271311,p.L61F	protein_coding	uc001dvx.3	nonsynonymous SNV	exon3	c.C178T	p.L60F	EWATVPGATSYLLTAEDGDTVIETT	EWATVPGATSYLFTAEDGDTVIETT	1.0	3.0	unscreened	-	3713_1:109260494-109260494 C>T_EWATVPGATSYLFTAEDGDTVIETT
14:19553882-19553882 G>A	1.0	3713	MELANOMA	-	-	-	-	POTEG	ENST00000552966,p.D156N|NM_001005356,p.D156N|ENST00000547889,p.D156N|ENST00000409832,p.D156N|uc001vuz.1,p.D156N	protein_coding, nonsense_mediated_decay	uc001vuz.1	nonsynonymous SNV	exon1	c.G466A	p.D156N	HRAAWWGKVPRKDLIVMLKDTDMNK	HRAAWWGKVPRKNLIVMLKDTDMNK	1.0	5.0	unscreened	-	3713_14:19553882-19553882 G>A_HRAAWWGKVPRKNLIVMLKDTDMNK
2:166231448-166231448 G>A	0.0	3713	MELANOMA	-	-	-	-	SCN2A	NM_001040142,p.G1409E|uc002ude.3,p.G1409E|uc002udd.3,p.G1409E|ENST00000375427,p.G1409E|ENST00000375437,p.G1409E|NM_001040143,p.G1409E|uc002udc.3,p.G1409E|ENST00000283256,p.G1409E|ENST00000357398,p.G1409E|NM_021007,p.G1409E	retained_intron, protein_coding	uc002ude.3	nonsynonymous SNV	exon21	c.G4226A	p.G1409E	RWKNVKVNFDNVGLGYLSLLQVATF	RWKNVKVNFDNVELGYLSLLQVATF	1.0	4.0	unscreened	-	3713_2:166231448-166231448 G>A_RWKNVKVNFDNVELGYLSLLQVATF
7:12420323-12420323 C>T	0.0	3713	MELANOMA	-	-	-	-	VWDE	ENST00000452576,p.G193E|NM_001135924,p.G193E|uc003ssj.2,p.G193E|ENST00000521169,p.G193E|ENST00000275358,p.G193E	retained_intron, protein_coding, nonsense_mediated_decay	uc003ssj.2	nonsynonymous SNV	exon5	c.G578A	p.G193E	RQLAASLPPPPAGRPEVLVELIESR	RQLAASLPPPPAERPEVLVELIESR	1.0	9.0	unscreened	-	3713_7:12420323-12420323 C>T_RQLAASLPPPPAERPEVLVELIESR
18:14851838-14851838 C>T	0.0	3713	MELANOMA	-	-	-	-	ANKRD30B	uc021uhy.1,p.P1180S|uc010dlo.2,p.P1180S|NM_001145029,p.P1180S|ENST00000358984,p.P1180S|uc010xal.1,p.P322S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021uhy.1	nonsynonymous SNV	exon36	c.C3538T	p.P1180S	KEILETEIESHHPRLASALQDHDQS	KEILETEIESHHSRLASALQDHDQS	1.0	10.0	unscreened	-	3713_18:14851838-14851838 C>T_KEILETEIESHHSRLASALQDHDQS
5:64587295-64587295 G>A	1.0	3713	MELANOMA	-	-	-	-	ADAMTS6	uc003jtp.3,p.S458L|ENST00000381055,p.S458L|ENST00000464680,p.S458L|NM_197941,p.S458L|uc003jtr.1,p.S79L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jtr.1	nonsynonymous SNV	exon10	c.C236T	p.S79L	ACSRDYITSFLDSGRGTCLDNEPPK	ACSRDYITSFLDLGRGTCLDNEPPK	2.0	7.0	unscreened	-	3713_5:64587295-64587295 G>A_ACSRDYITSFLDLGRGTCLDNEPPK
1:12941851-12941851 C>T	0.0	3713	MELANOMA	-	-	-	-	PRAMEF4	ENST00000235349,p.M233I|uc001aun.2,p.M233I|NM_001009611,p.M233I	protein_coding	uc001aun.2	nonsynonymous SNV	exon3	c.G699A	p.M233I	PILTQFTPYLGHMRNLQKLILSHMD	PILTQFTPYLGHIRNLQKLILSHMD	1.0	1.0	unscreened	-	3713_1:12941851-12941851 C>T_PILTQFTPYLGHIRNLQKLILSHMD
6:29142131-29142131 G>A	0.0	3713	MELANOMA	-	-	-	-	OR2J2	ENST00000377167,p.R240K|NM_030905,p.R240K|uc011dlm.2,p.R240K	protein_coding	uc011dlm.2	nonsynonymous SNV	exon1	c.G719A	p.R240K	SMQSTTGLQKVFRTCGAHLMVVSLF	SMQSTTGLQKVFKTCGAHLMVVSLF	1.0	1.0	unscreened	-	3713_6:29142131-29142131 G>A_SMQSTTGLQKVFKTCGAHLMVVSLF
16:71103239-71103239 C>T	0.0	3713	MELANOMA	-	-	ID=COSM704262,COSM704265;OCCURENCE=1(lung)	-	HYDIN	NM_001198542,p.M662I|uc002ezw.4,p.M652I|ENST00000541601,p.M652I|NM_001270974,p.M635I|ENST00000393552,p.M253I|ENST00000393550,p.M650I|uc010vmd.2,p.M662I|uc010cfz.2,p.M380I|uc031qwy.1,p.M635I|ENST00000288168,p.M652I|ENST00000448089,p.M635I|NM_001198543,p.M652I|uc010vmc.2,p.M652I|ENST00000321489,p.M635I|ENST00000393567,p.M635I|uc021tkq.2,p.M635I|ENST00000448691,p.M635I|NM_017558,p.M635I|ENST00000538248,p.M662I|ENST00000545230,p.M438I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon14	c.G1905A	p.M635I	KRPSWTKEEISSMKPKEFTISPDCG	KRPSWTKEEISSIKPKEFTISPDCG	1.0	1.0	unscreened	-	3713_16:71103239-71103239 C>T_KRPSWTKEEISSIKPKEFTISPDCG
6:161056274-161056274 C>T	0.0	3713	MELANOMA	-	-	-	-	LPA	uc003qtl.3,p.R319K|NM_005577,p.R319K|ENST00000316300,p.R319K|ENST00000447678,p.R319K	protein_coding, processed_transcript	uc003qtl.3	nonsynonymous SNV	exon8	c.G956A	p.R319K	NPDAVAAPYCYTRDPGVRWEYCNLT	NPDAVAAPYCYTKDPGVRWEYCNLT	1.0	1.0	unscreened	-	3713_6:161056274-161056274 C>T_NPDAVAAPYCYTKDPGVRWEYCNLT
19:7830082-7830082 C>T	0.0	3713	MELANOMA	-	-	-	-	CLEC4M	ENST00000596363,p.H20Y|NM_001144904,p.H20Y|uc010xjx.2,p.H20Y|NM_001144911,p.H20Y|ENST00000334806,p.H20Y|uc002mic.3,p.H20Y	retained_intron, protein_coding	uc010xjx.2	nonsynonymous SNV	exon2	c.C58T	p.H20Y	RVQQLGLLGCLGHGALVLQLLSFML	RVQQLGLLGCLGYGALVLQLLSFML	1.0	10.0	unscreened	-	3713_19:7830082-7830082 C>T_RVQQLGLLGCLGYGALVLQLLSFML
8:139165303-139165303 G>A	0.0	3713	MELANOMA	-	-	-	2	FAM135B	uc003yuy.3,p.S472F|ENST00000395297,p.S472F|uc003yvb.3,p.S34F|ENST00000276737,p.S472F|uc003yva.3,p.S34F|NM_015912,p.S472F|uc003yux.3,p.S373F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yvb.3	nonsynonymous SNV	exon1	c.C101T	p.S34F	LVLSTIKPSQMDSDEEVIRCPEPGE	LVLSTIKPSQMDFDEEVIRCPEPGE	1.0	3.0	unscreened	-	3713_8:139165303-139165303 G>A_LVLSTIKPSQMDFDEEVIRCPEPGE
10:23244836-23244836 G>A	0.0	3713	MELANOMA	-	-	-	-	ARMC3	NM_001282745,p.M89I|NM_173081,p.M89I|ENST00000409983,p.M89I|uc010qcv.2,p.M89I|ENST00000409049,p.M89I|NM_001282746,p.M89I|ENST00000298032,p.M89I|uc001irm.4,p.M89I	protein_coding, processed_transcript	uc010qcv.2	nonsynonymous SNV	exon4	c.G267A	p.M89I	THEDKIVRRNATMIFGILASNNDVK	THEDKIVRRNATIIFGILASNNDVK	1.0	10.0	unscreened	-	3713_10:23244836-23244836 G>A_THEDKIVRRNATIIFGILASNNDVK
8:2808734-2808734 C>T	0.0	3713	MELANOMA	-	-	-	-	CSMD1	ENST00000602557,p.R3369K|ENST00000542608,p.R3191K|NM_033225,p.R3368K|ENST00000400186,p.R3192K|uc022aqr.1,p.R3368K|uc010lrg.3,p.R1260K|ENST00000537824,p.R3368K|uc011kwj.2,p.R2683K|ENST00000520002,p.R3369K|ENST00000602723,p.R3192K	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon66	c.G10103A	p.R3368K	SLWKGYYEYLGKRQPATLTVDWFNA	SLWKGYYEYLGKKQPATLTVDWFNA	1.0	1.0	unscreened	-	3713_8:2808734-2808734 C>T_SLWKGYYEYLGKKQPATLTVDWFNA
6:155743829-155743829 T>C	0.0	3713	MELANOMA	-	-	-	-	NOX3	NM_015718,p.K436R|ENST00000159060,p.K436R|uc003qqm.3,p.K436R	protein_coding	uc003qqm.3	nonsynonymous SNV	exon10	c.A1307G	p.K436R	KCSEAQTPLKLSKVYFYWICRDARA	KCSEAQTPLKLSRVYFYWICRDARA	1.0	7.0	unscreened	-	3713_6:155743829-155743829 T>C_KCSEAQTPLKLSRVYFYWICRDARA
3:111637937-111637937 G>A	1.0	3713	MELANOMA	-	-	-	-	PHLDB2	uc010hqa.3,p.E580K|uc003dyi.3,p.E166K|NM_145753,p.E580K|ENST00000412622,p.E580K|ENST00000393925,p.E580K|uc003dyh.3,p.E580K|NM_001134438,p.E580K|uc003dyg.3,p.E580K|NM_001134437,p.E607K|ENST00000495180,p.E166K|ENST00000481953,p.E580K|ENST00000431670,p.E580K|NM_001134439,p.E580K|ENST00000498699,p.E580K|uc003dyc.3,p.E607K|ENST00000393923,p.E607K|uc003dyd.3,p.E580K	retained_intron, protein_coding, processed_transcript	uc010hqa.3	nonsynonymous SNV	exon4	c.G1738A	p.E580K	LSILPKTPEGISEEQRSQELAAMEE	LSILPKTPEGISKEQRSQELAAMEE	2.0	10.0	-	-	3713_3:111637937-111637937 G>A_LSILPKTPEGISKEQRSQELAAMEE
3:150645901-150645901 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1149620,COSM136380;OCCURENCE=1(skin),1(lung)	-	CLRN1	ENST00000295911,p.G98E|uc003eyj.3,p.G98E|ENST00000468836,p.G98E|ENST00000327047,p.G174E|uc003eyk.1,p.G174E|uc021xfs.1,p.G187E|ENST00000328863,p.G187E|NM_001195794,p.G187E|NM_052995,p.G98E|NM_174878,p.G174E	retained_intron, protein_coding	uc021xfs.1	nonsynonymous SNV	exon4	c.G560A	p.G187E	HHLSEKIANYKEGTYVYKTQSEKYT	HHLSEKIANYKEETYVYKTQSEKYT	1.0	4.0	unscreened	-	3713_3:150645901-150645901 C>T_HHLSEKIANYKEETYVYKTQSEKYT
16:23767500-23767500 G>A	0.0	3713	MELANOMA	-	-	-	-	CHP2	uc002dmb.1,p.R113K|NM_022097,p.R113K|ENST00000300113,p.R113K	protein_coding	uc002dmb.1	nonsynonymous SNV	exon4	c.G338A	p.R113K	QDPKKPEPLNSRRNKLHYAFQLYDL	QDPKKPEPLNSRKNKLHYAFQLYDL	1.0	1.0	unscreened	-	3713_16:23767500-23767500 G>A_QDPKKPEPLNSRKNKLHYAFQLYDL
12:70149378-70149378 C>T	0.0	3713	MELANOMA	-	-	-	-	RAB3IP	ENST00000552199,p.P80S|ENST00000417413,p.P64S|ENST00000378809,p.P80S|uc001svq.3,p.P80S|NM_022456,p.P64S|uc001svn.3,p.P64S|ENST00000549760,p.P64S|NM_175623,p.P80S|ENST00000483530,p.P64S|ENST00000362025,p.P80S|ENST00000550536,p.P80S|ENST00000247833,p.P64S|uc001svm.3,p.P64S|ENST00000378815,p.P64S|NM_175625,p.P80S|uc001svp.3,p.P80S|NM_175624,p.P64S|uc021rao.1,p.P64S	retained_intron, protein_coding, nonsense_mediated_decay	uc021rao.1	nonsynonymous SNV	exon2	c.C190T	p.P64S	PIQANALDVSELPTQPVYSSPRRLN	PIQANALDVSELSTQPVYSSPRRLN	1.0	6.0	unscreened	-	3713_12:70149378-70149378 C>T_PIQANALDVSELSTQPVYSSPRRLN
2:209324627-209324627 G>A	0.0	3713	MELANOMA	-	-	-	-	PTH2R	uc010zjb.2,p.E319K|uc002vdb.4,p.E308K|NM_005048,p.E308K|ENST00000272847,p.E308K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zjb.2	nonsynonymous SNV	exon9	c.G955A	p.E319K	VARATLADARCWELSAGDIKWIYQA	VARATLADARCWKLSAGDIKWIYQA	1.0	8.0	unscreened	-	3713_2:209324627-209324627 G>A_VARATLADARCWKLSAGDIKWIYQA
2:96993028-96993028 G>A	0.0	3713	MELANOMA	-	-	-	-	ITPRIPL1	ENST00000439118,p.G220E|NM_001008949,p.G220E|ENST00000536814,p.G212E|uc010yul.2,p.G212E|uc002svx.3,p.G220E|ENST00000542887,p.G212E|NM_178495,p.G228E|uc002svy.3,p.G228E|NM_001163523,p.G212E|uc010yuk.2,p.G212E|ENST00000361124,p.G228E|NM_001163524,p.G212E	protein_coding	uc010yul.2	nonsynonymous SNV	exon2	c.G635A	p.G212E	EAHPQLEDCLGIGAAFEKWGTLHET	EAHPQLEDCLGIEAAFEKWGTLHET	3.0	3.0	unscreened	-	3713_2:96993028-96993028 G>A_EAHPQLEDCLGIEAAFEKWGTLHET
5:140307828-140307828 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1719898;OCCURENCE=2(NS)	-	PCDHAC1	uc003lih.2,p.E451K|ENST00000409700,p.E451K|NM_031882,p.E451K|NM_018898,p.E451K|uc003lig.1,p.E451K|ENST00000253807,p.E451K	protein_coding	uc003lih.2	nonsynonymous SNV	exon1	c.G1351A	p.E451K	NDNTPNFPQPQQELFVAENNGPGAS	NDNTPNFPQPQQKLFVAENNGPGAS	1.0	9.0	unscreened	-	3713_5:140307828-140307828 G>A_NDNTPNFPQPQQKLFVAENNGPGAS
11:17393638-17393638 A>T	0.0	3713	MELANOMA	-	-	-	-	NCR3LG1	uc001mmz.4,p.K315I|NM_001202439,p.K315I|ENST00000530403,p.K315I|ENST00000338965,p.K315I	protein_coding, nonsense_mediated_decay	uc001mmz.4	nonsynonymous SNV	exon5	c.A944T	p.K315I	KHWNSFDTQTLKKEHLIFFCTRAWP	KHWNSFDTQTLKIEHLIFFCTRAWP	1.0	8.0	unscreened	-	3713_11:17393638-17393638 A>T_KHWNSFDTQTLKIEHLIFFCTRAWP
12:54963384-54963384 C>T	0.0	3713	MELANOMA	-	-	-	-	PDE1B	ENST00000550285,p.S176L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000550285	nonsynonymous SNV	exon5	c.C527T	p.S176L	TPLWAPLTLLRFSTVSRTWISGALM	TPLWAPLTLLRFLTVSRTWISGALM	2.0	5.0	unscreened	-	3713_12:54963384-54963384 C>T_TPLWAPLTLLRFLTVSRTWISGALM
1:62672695-62672695 A>T	0.0	3713	MELANOMA	-	-	-	-	L1TD1	uc001dae.4,p.N132I|NM_001164835,p.N132I|ENST00000498273,p.N132I|uc021ooc.1,p.N132I|NM_019079,p.N132I	protein_coding	uc021ooc.1	nonsynonymous SNV	exon4	c.A395T	p.N132I	EGENSKIGDDNENLTFKLEVNELSG	EGENSKIGDDNEILTFKLEVNELSG	2.0	2.0	unscreened	-	3713_1:62672695-62672695 A>T_EGENSKIGDDNEILTFKLEVNELSG
8:142178477-142178477 G>A	1.0	3713	MELANOMA	-	-	ID=COSM3319837;OCCURENCE=1(large_intestine)	-	DENND3	uc003yvy.3,p.E630K|ENST00000519811,p.E710K|ENST00000262585,p.E630K|ENST00000424248,p.E578K|uc003yvz.1,p.E314K|NM_014957,p.E630K|uc010mep.3,p.E591K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010mep.3	nonsynonymous SNV	exon11	c.G1771A	p.E591K	MRLISEILDKPHEASKLDDHVKKFK	MRLISEILDKPHKASKLDDHVKKFK	9.0	9.0	unscreened	-	3713_8:142178477-142178477 G>A_MRLISEILDKPHKASKLDDHVKKFK
X:111155782-111155782 T>C	0.0	3713	MELANOMA	-	-	-	-	TRPC5	NM_012471,p.S213G|uc004epl.1,p.S213G|ENST00000262839,p.S213G|uc004epm.1,p.S213G	protein_coding	uc004epm.1	nonsynonymous SNV	exon3	c.A637G	p.S213G	KALASPSLIALSSEDPILTAFRLGW	KALASPSLIALSGEDPILTAFRLGW	1.0	6.0	unscreened	-	3713_X:111155782-111155782 T>C_KALASPSLIALSGEDPILTAFRLGW
19:7830082-7830082 C>T	0.0	3713	MELANOMA	-	-	-	-	CLEC4M	ENST00000394122,p.H40Y|ENST00000248228,p.H48Y|NM_001144909,p.H48Y|ENST00000327325,p.H48Y|NM_001144908,p.H48Y|uc002mih.3,p.H48Y|NM_001144910,p.H48Y|ENST00000357361,p.H48Y|uc010dvt.3,p.H48Y|ENST00000597522,p.H48Y|uc010dvs.3,p.H47Y|uc002mhz.3,p.H48Y|NM_014257,p.H48Y|NM_001144905,p.H47Y	retained_intron, protein_coding	uc010dvt.3	nonsynonymous SNV	exon3	c.C142T	p.H48Y	IHGHKSSTGCLGHGALVLQLLSFML	IHGHKSSTGCLGYGALVLQLLSFML	1.0	10.0	unscreened	-	3713_19:7830082-7830082 C>T_IHGHKSSTGCLGYGALVLQLLSFML
11:45868998-45868998 C>T	0.0	3713	MELANOMA	-	-	-	-	CRY2	ENST00000443527,p.A7V|uc010rgn.2,p.A7V|NM_021117,p.A7V	retained_intron, protein_coding, processed_transcript	uc010rgn.2	nonsynonymous SNV	exon1	c.C20T	p.A7V	MGGVHVAYRGGAGVAGAVW	MGGVHVVYRGGAGVAGAVW	6.0	2.0	unscreened	-	3713_11:45868998-45868998 C>T_MGGVHVVYRGGAGVAGAVW
3:404923-404923 C>T	0.0	3713	MELANOMA	-	-	-	-	CHL1	uc011asi.2,p.P481L|NM_006614,p.P481L|NM_001253388,p.P481L|NM_001253387,p.P465L|uc003bot.3,p.P481L|uc003bou.3,p.P465L|ENST00000256509,p.P481L|ENST00000397491,p.P465L|uc003bow.2,p.P465L	protein_coding, processed_transcript, nonsense_mediated_decay	uc011asi.2	nonsynonymous SNV	exon12	c.C1442T	p.P481L	AVVSWQKVEEVKPLEGRRYHIYENG	AVVSWQKVEEVKLLEGRRYHIYENG	4.0	7.0	unscreened	-	3713_3:404923-404923 C>T_AVVSWQKVEEVKLLEGRRYHIYENG
12:125609519-125609519 G>A	1.0	3713	MELANOMA	-	-	-	-	AACS	uc001uhc.3,p.E420K|ENST00000538851,p.E85K|ENST00000316543,p.E18K|uc001uhd.3,p.E420K|NM_023928,p.E420K|ENST00000441247,p.E239K|ENST00000316519,p.E420K|uc009zyi.3,p.E18K|ENST00000261686,p.E420K	protein_coding, processed_transcript, nonsense_mediated_decay	uc009zyi.3	nonsynonymous SNV	exon5	c.G52A	p.E18K	LSTGSPLKAQSYEYVYRCIKSSILL	LSTGSPLKAQSYKYVYRCIKSSILL	3.0	9.0	-	-	3713_12:125609519-125609519 G>A_LSTGSPLKAQSYKYVYRCIKSSILL
8:125110030-125110030 G>A	0.0	3713	MELANOMA	-	-	-	-	FER1L6	ENST00000522917,p.E1597K|NM_001039112,p.E1597K|ENST00000399018,p.E1597K|uc003yqw.3,p.E1597K	protein_coding	uc003yqw.3	nonsynonymous SNV	exon37	c.G4789A	p.E1597K	PVDISPRRPKGYELRVTIWNTEDVI	PVDISPRRPKGYKLRVTIWNTEDVI	1.0	10.0	unscreened	-	3713_8:125110030-125110030 G>A_PVDISPRRPKGYKLRVTIWNTEDVI
6:105572527-105572527 C>T	1.0	3713	MELANOMA	-	-	-	-	BVES	NM_007073,p.M181I|ENST00000336775,p.M181I|NM_147147,p.M181I|uc003pqw.3,p.M181I|uc003pqx.3,p.M181I|uc003pqy.3,p.M181I|NM_001199563,p.M181I|ENST00000314641,p.M181I|ENST00000446408,p.M181I	protein_coding	uc003pqy.3	nonsynonymous SNV	exon5	c.G543A	p.M181I	VDDRLSILLKGKMKVSYRGHFLHNI	VDDRLSILLKGKIKVSYRGHFLHNI	3.0	7.0	unscreened	-	3713_6:105572527-105572527 C>T_VDDRLSILLKGKIKVSYRGHFLHNI
6:83938563-83938563 T>G	0.0	3713	MELANOMA	-	-	-	-	ME1	ENST00000543031,p.K297Q|uc003pjy.3,p.K372Q|ENST00000541327,p.K206Q|NM_002395,p.K372Q|ENST00000369705,p.K372Q|uc011dzc.2,p.K206Q|uc011dzb.2,p.K297Q	protein_coding	uc011dzc.2	nonsynonymous SNV	exon8	c.A616C	p.K206Q	EMKNLEAIVQEIKPTALIGVAAIGG	EMKNLEAIVQEIQPTALIGVAAIGG	2.0	7.0	unscreened	-	3713_6:83938563-83938563 T>G_EMKNLEAIVQEIQPTALIGVAAIGG
2:1946940-1946940 C>T	0.0	3713	MELANOMA	-	-	-	-	MYT1L	uc002qxd.3,p.G107R|ENST00000399161,p.G107R|ENST00000428368,p.G107R|uc002qxe.3,p.G107R|NM_015025,p.G107R	retained_intron, protein_coding, processed_transcript	uc002qxe.3	nonsynonymous SNV	exon9	c.G319A	p.G107R	GTEDMDEKEEDEGEEYSEDNDEPGD	GTEDMDEKEEDEREEYSEDNDEPGD	1.0	10.0	unscreened	-	3713_2:1946940-1946940 C>T_GTEDMDEKEEDEREEYSEDNDEPGD
X:37028770-37028770 C>T	0.0	3713	MELANOMA	-	-	ID=COSM311061,COSM311060;OCCURENCE=1(lung)	2	FAM47C	uc004ddl.2,p.R763C|ENST00000358047,p.R763C|NM_001013736,p.R763C	protein_coding	uc004ddl.2	nonsynonymous SNV	exon1	c.C2287T	p.R763C	RPEPLETRVSHLRPEPPETGVSHLH	RPEPLETRVSHLCPEPPETGVSHLH	1.0	10.0	unscreened	-	3713_X:37028770-37028770 C>T_RPEPLETRVSHLCPEPPETGVSHLH
11:4904070-4904070 C>T	0.0	3713	MELANOMA	-	-	-	-	OR51T1	NM_001004759,p.S341L|ENST00000380378,p.S341L|ENST00000322049,p.S314L|uc010qyp.2,p.S341L	protein_coding	uc010qyp.2	nonsynonymous SNV	exon1	c.C1022T	p.S341L	RQAMFQLLQSKGSWGFNVRGLRGRW	RQAMFQLLQSKGLWGFNVRGLRGRW	1.0	3.0	unscreened	-	3713_11:4904070-4904070 C>T_RQAMFQLLQSKGLWGFNVRGLRGRW
17:42335483-42335483 C>T	0.0	3713	MELANOMA	-	-	-	-	SLC4A1	NM_000342,p.D385N|ENST00000262418,p.D385N|uc002igf.4,p.D385N	retained_intron, protein_coding, processed_transcript	uc002igf.4	nonsynonymous SNV	exon11	c.G1153A	p.D385N	QQTGQLFGGLVRDIRRRYPYYLSDI	QQTGQLFGGLVRNIRRRYPYYLSDI	1.0	10.0	unscreened	-	3713_17:42335483-42335483 C>T_QQTGQLFGGLVRNIRRRYPYYLSDI
6:100841740-100841740 G>A	0.0	3713	MELANOMA	-	-	-	-	SIM1	NM_005068,p.S398L|ENST00000262901,p.S398L|uc003pqj.4,p.S398L|uc021zdg.1,p.S398L|uc010kcu.3,p.S398L|ENST00000369208,p.S398L	retained_intron, protein_coding	uc021zdg.1	nonsynonymous SNV	exon10	c.C1193T	p.S398L	PYPQYSGFHTERSESDHDSQWGGSP	PYPQYSGFHTERLESDHDSQWGGSP	1.0	6.0	unscreened	-	3713_6:100841740-100841740 G>A_PYPQYSGFHTERLESDHDSQWGGSP
16:58438421-58438421 C>T	1.0	3713	MELANOMA	-	-	ID=COSM3818177,COSM3818178;OCCURENCE=1(breast)	-	GINS3	uc002enj.4,p.R69C|NM_001126130,p.R69C|ENST00000328514,p.R69C	retained_intron, protein_coding, processed_transcript	uc002enj.4	nonsynonymous SNV	exon2	c.C205T	p.R69C	DNAVPQTFIGRFRRIMDSSQNAYNE	DNAVPQTFIGRFCRIMDSSQNAYNE	4.0	2.0	unscreened	-	3713_16:58438421-58438421 C>T_DNAVPQTFIGRFCRIMDSSQNAYNE
10:30315698-30315698 C>T	0.0	3713	MELANOMA	-	-	-	-	KIAA1462	ENST00000375377,p.E1127K|uc001iuz.3,p.E989K|uc009xle.2,p.E1127K|uc001iux.3,p.E1127K|NM_020848,p.E1127K	protein_coding, processed_transcript	uc009xle.2	nonsynonymous SNV	exon3	c.G3379A	p.E1127K	DASACTPESPQEELLSRPAPADVPR	DASACTPESPQEKLLSRPAPADVPR	4.0	10.0	unscreened	-	3713_10:30315698-30315698 C>T_DASACTPESPQEKLLSRPAPADVPR
12:52162809-52162809 C>T	0.0	3713	MELANOMA	-	-	-	-	SCN8A	NM_014191,p.A1021V|ENST00000545061,p.A1021V|ENST00000354534,p.A1021V|NM_001177984,p.A1021V|uc010snl.3,p.A1021V|uc001ryw.4,p.A1021V|ENST00000355133,p.A1021V	protein_coding, processed_transcript	uc010snl.3	nonsynonymous SNV	exon17	c.C3062T	p.A1021V	AWTKLKVHAFMQAHFKQREADEVKP	AWTKLKVHAFMQVHFKQREADEVKP	1.0	6.0	unscreened	-	3713_12:52162809-52162809 C>T_AWTKLKVHAFMQVHFKQREADEVKP
9:33798550-33798550 C>T	0.0	3713	MELANOMA	-	-	-	-	PRSS3	uc003ztj.4,p.S231F|NM_002771,p.S174F|ENST00000379405,p.S174F|NM_001197097,p.S188F|uc022bfu.1,p.S167F|uc003ztl.4,p.S174F|ENST00000342836,p.S188F|NM_001197098,p.S167F|uc003zti.4,p.S188F|NM_007343,p.S231F|ENST00000429677,p.S167F|ENST00000361005,p.S231F	protein_coding, processed_transcript	uc022bfu.1	nonsynonymous SNV	exon4	c.C500T	p.S167F	DAPVLTQAECKASYPGKITNSMFCV	DAPVLTQAECKAFYPGKITNSMFCV	1.0	9.0	unscreened	-	3713_9:33798550-33798550 C>T_DAPVLTQAECKAFYPGKITNSMFCV
19:9073342-9073342 C>T	0.0	3713	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.E4702K|uc002mkp.3,p.E4702K|NM_024690,p.E4702K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.G14104A	p.E4702K	SKIPLALDTSTLETSAGTPSVVTEG	SKIPLALDTSTLKTSAGTPSVVTEG	1.0	3.0	unscreened	-	3713_19:9073342-9073342 C>T_SKIPLALDTSTLKTSAGTPSVVTEG
7:93098051-93098051 G>A	0.0	3713	MELANOMA	-	-	-	-	CALCR	ENST00000359558,p.S184F|ENST00000423724,p.S166F|uc003umv.2,p.S184F|ENST00000360249,p.S166F|ENST00000421592,p.S166F|NM_001164737,p.S184F	protein_coding, nonsense_mediated_decay	uc003umv.2	nonsynonymous SNV	exon8	c.C551T	p.S184F	VGHSLSIFTLVISLGIFVFFRKLTT	VGHSLSIFTLVIFLGIFVFFRKLTT	1.0	9.0	unscreened	-	3713_7:93098051-93098051 G>A_VGHSLSIFTLVIFLGIFVFFRKLTT
19:56538933-56538933 G>A	0.0	3713	MELANOMA	-	-	-	-	NLRP5	uc002qmi.3,p.G426E|NM_153447,p.G445E|uc002qmj.3,p.G445E|ENST00000390649,p.G445E	protein_coding, nonsense_mediated_decay	uc002qmj.3	nonsynonymous SNV	exon7	c.G1334A	p.G445E	SGEQRIHLLLERGIGEHQKTQGLRA	SGEQRIHLLLEREIGEHQKTQGLRA	1.0	10.0	unscreened	-	3713_19:56538933-56538933 G>A_SGEQRIHLLLEREIGEHQKTQGLRA
19:6586405-6586405 C>T	1.0	3713	MELANOMA	-	-	-	-	CD70	NM_001252,p.D70N|uc010xjf.1,p.D70N|ENST00000245903,p.D70N|uc002mfi.3,p.D70N|ENST00000423145,p.D70N	protein_coding	uc010xjf.1	nonsynonymous SNV	exon3	c.G208A	p.D70N	AELQLNHTGPQQDPRLYWQGGPALG	AELQLNHTGPQQNPRLYWQGGPALG	2.0	10.0	-	-	3713_19:6586405-6586405 C>T_AELQLNHTGPQQNPRLYWQGGPALG
9:129973030-129973030 C>T	0.0	3713	MELANOMA	-	-	-	-	RALGPS1	uc004bqq.4,p.S365F|ENST00000424082,p.S365F|NM_001190729,p.S365F|uc011mac.2,p.S365F|NM_001190728,p.S365F|ENST00000373434,p.S365F	protein_coding, processed_transcript	uc011mac.2	nonsynonymous SNV	exon13	c.C1094T	p.S365F	TLGPNWRVPVRNSPRTRSCVYSPTG	TLGPNWRVPVRNFPRTRSCVYSPTG	5.0	3.0	unscreened	-	3713_9:129973030-129973030 C>T_TLGPNWRVPVRNFPRTRSCVYSPTG
8:2876146-2876146 G>A	1.0	3713	MELANOMA	-	-	-	-	CSMD1	uc022aqr.1,p.P2628S|NM_033225,p.P2628S|uc011kwj.2,p.P1958S|ENST00000602557,p.P2629S|ENST00000520002,p.P2629S|ENST00000537824,p.P2628S	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon52	c.C7882T	p.P2628S	SCRVISCGSLSFPPNGNKIGTLTVY	SCRVISCGSLSFSPNGNKIGTLTVY	1.0	10.0	unscreened	-	3713_8:2876146-2876146 G>A_SCRVISCGSLSFSPNGNKIGTLTVY
19:15302408-15302408 C>T	0.0	3713	MELANOMA	-	-	-	-	NOTCH3	uc002nao.1,p.G288E|uc002nan.3,p.G288E|ENST00000263388,p.G288E|ENST00000601011,p.G287E|NM_000435,p.G288E	retained_intron, protein_coding, nonsense_mediated_decay	uc002nao.1	nonsynonymous SNV	exon6	c.G863A	p.G288E	DECQLQPNACHNGGTCFNTLGGHSC	DECQLQPNACHNEGTCFNTLGGHSC	4.0	8.0	unscreened	-	3713_19:15302408-15302408 C>T_DECQLQPNACHNEGTCFNTLGGHSC
11:57313818-57313818 G>A	1.0	3713	MELANOMA	-	-	-	-	SMTNL1	ENST00000399154,p.E359K|uc021qjh.1,p.E396K|ENST00000527972,p.E396K|NM_001105565,p.E396K|ENST00000457912,p.E414K	protein_coding	uc021qjh.1	nonsynonymous SNV	exon5	c.G1186A	p.E396K	LLEWCRAMTKKYEHVDIQNFSSSWS	LLEWCRAMTKKYKHVDIQNFSSSWS	1.0	1.0	unscreened	-	3713_11:57313818-57313818 G>A_LLEWCRAMTKKYKHVDIQNFSSSWS
20:18370346-18370346 G>A	1.0	3713	MELANOMA	-	-	-	-	DZANK1	ENST00000262547,p.P673S|uc010zsa.2,p.P692S|uc010zrz.2,p.P211S|ENST00000357236,p.P559S|ENST00000329494,p.P651S|NM_001099407,p.P673S|uc002wqp.4,p.P383S|uc002wqs.4,p.P559S|ENST00000377630,p.P506S|uc002wqq.4,p.P673S	protein_coding, processed_transcript	uc010zsa.2	nonsynonymous SNV	exon19	c.C2074T	p.P692S	VQRGADIDQQWGPLRNTALHEATLL	VQRGADIDQQWGSLRNTALHEATLL	5.0	7.0	unscreened	-	3713_20:18370346-18370346 G>A_VQRGADIDQQWGSLRNTALHEATLL
5:161578743-161578743 G>A	0.0	3713	MELANOMA	-	-	ID=COSM2156243;OCCURENCE=1(central_nervous_system)	-	GABRG2	NM_198904,p.R379Q|uc010jjc.3,p.R419Q|NM_198903,p.R419Q|uc003lyy.4,p.R379Q|ENST00000414552,p.R419Q|ENST00000356592,p.R379Q	protein_coding, nonsense_mediated_decay	uc010jjc.3	nonsynonymous SNV	exon10	c.G1256A	p.R419Q	KDKDKKKKNPLLRMFSFKAPTIDIR	KDKDKKKKNPLLQMFSFKAPTIDIR	1.0	9.0	unscreened	-	3713_5:161578743-161578743 G>A_KDKDKKKKNPLLQMFSFKAPTIDIR
2:103040310-103040310 G>A	0.0	3713	MELANOMA	-	-	-	-	IL18RAP	uc002tbx.3,p.R37K|ENST00000264260,p.R37K|NM_003853,p.R37K	retained_intron, protein_coding	uc002tbx.3	nonsynonymous SNV	exon4	c.G110A	p.R37K	CSTKKLLWTYSTRSEEEFVLFCDLP	CSTKKLLWTYSTKSEEEFVLFCDLP	2.0	10.0	unscreened	-	3713_2:103040310-103040310 G>A_CSTKKLLWTYSTKSEEEFVLFCDLP
1:47610294-47610294 G>A	0.0	3713	MELANOMA	-	-	-	-	CYP4A22	uc009vyo.3,p.D324N|ENST00000371891,p.D324N|uc001cqv.1,p.D324N|NM_001010969,p.D324N|ENST00000294337,p.D324N	protein_coding, processed_transcript	uc009vyo.3	nonsynonymous SNV	exon8	c.G970A	p.D324N	RAEVDTFMFEGHDTTASGISWILYA	RAEVDTFMFEGHNTTASGISWILYA	1.0	6.0	unscreened	-	3713_1:47610294-47610294 G>A_RAEVDTFMFEGHNTTASGISWILYA
16:68265971-68265971 C>T	0.0	3713	MELANOMA	-	-	-	-	ESRP2	ENST00000473183,p.E345K|ENST00000565858,p.E355K|uc010cfa.1,p.E355K|uc002evq.1,p.E345K|NM_024939,p.E345K	retained_intron, protein_coding, nonsense_mediated_decay	uc010cfa.1	nonsynonymous SNV	exon10	c.G1063A	p.E355K	GTSLEVARFLSREDQVILRLRGLPF	GTSLEVARFLSRKDQVILRLRGLPF	1.0	8.0	unscreened	-	3713_16:68265971-68265971 C>T_GTSLEVARFLSRKDQVILRLRGLPF
19:16003246-16003246 C>T	0.0	3713	MELANOMA	-	-	-	-	CYP4F2	uc002nbs.1,p.G133E|ENST00000221700,p.G133E|NM_001082,p.G133E|ENST00000586927,p.G133E|ENST00000592328,p.G133E	retained_intron, protein_coding, nonsense_mediated_decay	uc002nbs.1	nonsynonymous SNV	exon5	c.G398A	p.G133E	DKFFYSFLEPWLGDGLLLSAGDKWS	DKFFYSFLEPWLEDGLLLSAGDKWS	1.0	4.0	unscreened	-	3713_19:16003246-16003246 C>T_DKFFYSFLEPWLEDGLLLSAGDKWS
19:40383573-40383573 G>A	0.0	3713	MELANOMA	-	-	-	-	FCGBP	uc002omp.4,p.A3346V|NM_003890,p.A3346V|ENST00000221347,p.A3346V	protein_coding, processed_transcript	uc002omp.4	nonsynonymous SNV	exon21	c.C10037T	p.A3346V	TLQIYNHSLTLSARWPRKLQVDGVF	TLQIYNHSLTLSVRWPRKLQVDGVF	2.0	1.0	unscreened	-	3713_19:40383573-40383573 G>A_TLQIYNHSLTLSVRWPRKLQVDGVF
9:123731375-123731375 C>T	0.0	3713	MELANOMA	-	-	-	-	C5	uc004bkv.3,p.G1395E|ENST00000223642,p.G1395E|NM_001735,p.G1395E	retained_intron, protein_coding, processed_transcript	uc004bkv.3	nonsynonymous SNV	exon33	c.G4184A	p.G1395E	TQDIEASHYRGYGNSDYKRIVACAS	TQDIEASHYRGYENSDYKRIVACAS	2.0	3.0	unscreened	-	3713_9:123731375-123731375 C>T_TQDIEASHYRGYENSDYKRIVACAS
1:225511982-225511982 C>T	0.0	3713	MELANOMA	-	-	-	-	DNAH14	uc001how.2,p.S3092L|ENST00000430092,p.S3092L|NM_001373,p.S3092L|ENST00000439375,p.S3092L|ENST00000445597,p.S2439L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001how.2	nonsynonymous SNV	exon61	c.C9275T	p.S3092L	IVTLPDFNPHKISLVSVACCSLCQW	IVTLPDFNPHKILLVSVACCSLCQW	5.0	5.0	unscreened	-	3713_1:225511982-225511982 C>T_IVTLPDFNPHKILLVSVACCSLCQW
4:20599984-20599984 G>A	1.0	3713	MELANOMA	-	-	-	-	SLIT2	uc003gps.1,p.D1212N|ENST00000504154,p.D1220N|ENST00000503837,p.D1216N|NM_001289136,p.D1212N|ENST00000503823,p.D1212N|ENST00000273739,p.D1233N|NM_001289135,p.D1216N|uc003gpr.1,p.D1220N|NM_004787,p.D1220N	retained_intron, protein_coding, processed_transcript	uc003gps.1	nonsynonymous SNV	exon32	c.G3634A	p.D1212N	VELYRGRVRASYDTGSHPASAIYSV	VELYRGRVRASYNTGSHPASAIYSV	3.0	10.0	-	-	3713_4:20599984-20599984 G>A_VELYRGRVRASYNTGSHPASAIYSV
18:19057242-19057242 C>G	0.0	3713	MELANOMA	-	-	-	-	GREB1L	uc010dlp.1,p.F718L|ENST00000269218,p.F718L|ENST00000580732,p.F827L|ENST00000424526,p.F827L|NM_001142966,p.F827L|uc010xan.1,p.F243L|uc010xam.2,p.F827L	retained_intron, protein_coding, processed_transcript	uc010xan.1	nonsynonymous SNV	exon5	c.C729G	p.F243L	EAFNLLVLQVSSFPYTLQTQQSRIS	EAFNLLVLQVSSLPYTLQTQQSRIS	1.0	6.0	unscreened	-	3713_18:19057242-19057242 C>G_EAFNLLVLQVSSLPYTLQTQQSRIS
2:56145148-56145148 C>T	1.0	3713	MELANOMA	-	-	-	-	EFEMP1	NM_001039349,p.G57S|ENST00000429909,p.G57S|ENST00000394555,p.G57S|ENST00000440439,p.G57S|NM_001039348,p.G57S|ENST00000394554,p.G57S|uc002rzi.3,p.G57S|ENST00000439193,p.G57S|uc002rzj.3,p.G57S|ENST00000438672,p.G57S|ENST00000355426,p.G57S	retained_intron, protein_coding, processed_transcript	uc002rzj.3	nonsynonymous SNV	exon4	c.G169A	p.G57S	IDECDIVPDACKGGMKCVNHYGGYL	IDECDIVPDACKSGMKCVNHYGGYL	6.0	5.0	-	-	3713_2:56145148-56145148 C>T_IDECDIVPDACKSGMKCVNHYGGYL
5:120021914-120021914 C>T	1.0	3713	MELANOMA	-	-	-	-	PRR16	uc003ksq.3,p.P142L|ENST00000379551,p.P119L|ENST00000446965,p.P72L|NM_001300783,p.P142L|ENST00000505123,p.P72L|uc003ksp.3,p.P119L|ENST00000407149,p.P142L|NM_016644,p.P119L|uc003ksr.3,p.P72L|ENST00000509923,p.P72L	protein_coding	uc003ksr.3	nonsynonymous SNV	exon3	c.C215T	p.P72L	TPVKCEDPKRVVPTANPVKTNGTLL	TPVKCEDPKRVVLTANPVKTNGTLL	1.0	2.0	-	-	3713_5:120021914-120021914 C>T_TPVKCEDPKRVVLTANPVKTNGTLL
16:67681824-67681824 G>A	0.0	3713	MELANOMA	-	-	-	-	RLTPR	uc002etn.3,p.G345E|uc010vjr.2,p.G345E|ENST00000545661,p.G345E|ENST00000334583,p.G345E|NM_001013838,p.G345E|uc010cel.1,p.G345E	protein_coding	uc010vjr.2	nonsynonymous SNV	exon13	c.G1034A	p.G345E	AFDSTLTHLDLSGNPGALGASEDSG	AFDSTLTHLDLSENPGALGASEDSG	2.0	7.0	unscreened	-	3713_16:67681824-67681824 G>A_AFDSTLTHLDLSENPGALGASEDSG
2:189858767-189858767 C>T	0.0	3713	MELANOMA	-	-	-	2	COL3A1	NM_000090,p.P385S|ENST00000304636,p.P385S|uc002uqj.1,p.P385S|ENST00000317840,p.P385S	retained_intron, protein_coding	uc002uqj.1	nonsynonymous SNV	exon17	c.C1153T	p.P385S	PQGHAGAQGPPGPPGINGSPGGKGE	PQGHAGAQGPPGSPGINGSPGGKGE	10.0	10.0	unscreened	-	3713_2:189858767-189858767 C>T_PQGHAGAQGPPGSPGINGSPGGKGE
10:45498850-45498850 C>T	1.0	3713	MELANOMA	-	-	-	-	ZNF22	ENST00000298299,p.R12W|uc021ppo.1,p.R12W|uc001jbw.3,p.R12W|NM_006963,p.R12W	protein_coding	uc021ppo.1	nonsynonymous SNV	exon1	c.C34T	p.R12W	MRLAKPKAGISRSSSQGKAYENKR	MRLAKPKAGISWSSSQGKAYENKR	8.0	4.0	unscreened	-	3713_10:45498850-45498850 C>T_MRLAKPKAGISWSSSQGKAYENKR
19:55146713-55146713 C>T	0.0	3713	MELANOMA	-	-	-	-	LILRB1	ENST00000448689,p.P496L|ENST00000421584,p.P496L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000448689	nonsynonymous SNV	exon10	c.C1487T	p.P496L	RHRRQGKHWTSSPAQLPMPRKKTSM	RHRRQGKHWTSSLAQLPMPRKKTSM	7.0	3.0	unscreened	-	3713_19:55146713-55146713 C>T_RHRRQGKHWTSSLAQLPMPRKKTSM
10:28149592-28149592 C>T	1.0	3713	MELANOMA	0.0014	-	-	-	ARMC4	uc009xky.3,p.D995N|uc010qdt.2,p.D687N|NM_018076,p.D995N|NM_001290021,p.D520N|uc001itz.3,p.D995N|ENST00000545014,p.D520N|ENST00000537576,p.D687N|uc010qds.2,p.D520N|NM_001290020,p.D995N|ENST00000305242,p.D995N	protein_coding, processed_transcript	uc010qdt.2	nonsynonymous SNV	exon14	c.G2059A	p.D687N	TAQALYQLSEDADNCITMHENGAVK	TAQALYQLSEDANNCITMHENGAVK	1.0	5.0	unscreened	-	3713_10:28149592-28149592 C>T_TAQALYQLSEDANNCITMHENGAVK
1:158449791-158449791 G>A	0.0	3713	MELANOMA	-	-	-	-	OR10R2	NM_001004472,p.E42K|ENST00000368152,p.E42K|uc010pik.2,p.E42K	protein_coding	uc010pik.2	nonsynonymous SNV	exon1	c.G124A	p.E42K	TEFLLLGFSSLGEIQLALFVVFLFL	TEFLLLGFSSLGKIQLALFVVFLFL	1.0	4.0	unscreened	-	3713_1:158449791-158449791 G>A_TEFLLLGFSSLGKIQLALFVVFLFL
8:32617737-32617737 G>A	1.0	3713	MELANOMA	-	-	-	1	NRG1	ENST00000523534,p.E434K|NM_013957,p.E358K|ENST00000338921,p.E369K|uc010lvs.2,p.E103K|NM_001159996,p.E207K|ENST00000539990,p.E204K|ENST00000518104,p.E328K|uc003xiw.2,p.E358K|NM_001160004,p.E358K|ENST00000519301,p.E311K|uc022ats.1,p.E311K|ENST00000405005,p.E361K|uc010lvr.2,p.E103K|uc010lvo.2,p.E358K|uc011lbf.1,p.E358K|NM_001160008,p.E358K|uc003xiu.2,p.E366K|ENST00000287840,p.E361K|uc003xiv.2,p.E361K|uc003xja.2,p.E172K|NM_013960,p.E361K|NM_013956,p.E366K|ENST00000356819,p.E366K|ENST00000523079,p.E358K|ENST00000287842,p.E358K|uc003xit.2,p.E361K|NM_013964,p.E361K|ENST00000287845,p.E332K|uc011lbh.1,p.E204K|uc011lbg.1,p.E207K|ENST00000521670,p.E361K	retained_intron, protein_coding, processed_transcript	uc022ats.1	nonsynonymous SNV	exon10	c.G931A	p.E311K	QTPSHSWSNGHTESILSESHSVIVM	QTPSHSWSNGHTKSILSESHSVIVM	1.0	8.0	unscreened	-	3713_8:32617737-32617737 G>A_QTPSHSWSNGHTKSILSESHSVIVM
15:90784150-90784150 C>T	1.0	3713	MELANOMA	-	-	-	-	GDPGP1	ENST00000558017,p.P4S|uc021suh.1,p.P4S|ENST00000329600,p.P4S|NM_001013657,p.P4S|uc002bpc.3,p.P4S|ENST00000559204,p.P4S|ENST00000561433,p.P4S	protein_coding	uc021suh.1	nonsynonymous SNV	exon1	c.C10T	p.P4S	MALPHDSNETSYLLPP	MALSHDSNETSYLLPP	5.0	7.0	unscreened	-	3713_15:90784150-90784150 C>T_MALSHDSNETSYLLPP
3:195509830-195509830 G>A	0.0	3713	MELANOMA	-	-	-	2	MUC4	ENST00000480843,p.S2874F|ENST00000477756,p.S2874F|ENST00000475231,p.S2874F|ENST00000463781,p.S2874F|ENST00000462323,p.S2874F|ENST00000466475,p.S2874F|ENST00000470451,p.S2874F|uc021xjp.1,p.S2874F|NM_018406,p.S2874F|ENST00000479406,p.S2874F|ENST00000477086,p.S2874F|ENST00000478156,p.S2874F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C8621T	p.S2874F	ATSLPVTDASSVSTGHATPLPVTDA	ATSLPVTDASSVFTGHATPLPVTDA	1.0	1.0	unscreened	-	3713_3:195509830-195509830 G>A_ATSLPVTDASSVFTGHATPLPVTDA
3:14963489-14963489 G>A	0.0	3713	MELANOMA	-	-	-	-	FGD5	NM_152536,p.A1212T|uc011avk.2,p.A1212T|ENST00000285046,p.A1212T|uc003bzd.3,p.A290T|uc003bzc.3,p.A1212T|ENST00000543601,p.A971T	retained_intron, protein_coding, processed_transcript	uc011avk.2	nonsynonymous SNV	exon14	c.G3634A	p.A1212T	GCLSRALPEDYKAQALAAFHHSVEI	GCLSRALPEDYKTQALAAFHHSVEI	3.0	9.0	unscreened	-	3713_3:14963489-14963489 G>A_GCLSRALPEDYKTQALAAFHHSVEI
22:20720924-20720924 A>G	0.0	3713	MELANOMA	-	-	-	-	RIMBP3,ZNF74	uc011ahp.1,p.F93S|uc011ahq.1,p.F201S|ENST00000454608,p.F275S	protein_coding, processed_transcript	uc011ahq.1	nonsynonymous SNV	exon6	c.T602C	p.F201S	NSQTRKICHSLYFPQSLDFSQILPM	NSQTRKICHSLYSPQSLDFSQILPM	1.0	4.0	unscreened	-	3713_22:20720924-20720924 A>G_NSQTRKICHSLYSPQSLDFSQILPM
19:56370290-56370290 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1712884,COSM1712883;OCCURENCE=1(skin)	-	NLRP4	uc002qmf.3,p.E436K|NM_134444,p.E511K|ENST00000587891,p.E436K|ENST00000301295,p.E511K|ENST00000346986,p.E511K|uc002qmd.4,p.E511K|uc010etf.3,p.E342K	protein_coding	uc010etf.3	nonsynonymous SNV	exon1	c.G1024A	p.E342K	LGCFLTGLLNKKEQEKLDAFFGFQL	LGCFLTGLLNKKKQEKLDAFFGFQL	1.0	10.0	unscreened	-	3713_19:56370290-56370290 G>A_LGCFLTGLLNKKKQEKLDAFFGFQL
11:36615291-36615291 T>A	0.0	3713	MELANOMA	-	-	-	-	RAG2	uc001mwv.4,p.N143I|NM_001243786,p.N143I|uc021qge.1,p.N143I|NM_001243785,p.N143I|uc021qgd.1,p.N143I|uc021qgc.1,p.N143I|ENST00000311485,p.N143I|NM_000536,p.N143I	protein_coding, processed_transcript	uc021qge.1	nonsynonymous SNV	exon1	c.A428T	p.N143I	GDVPEARYGHSINVVYSRGKSMGVL	GDVPEARYGHSIIVVYSRGKSMGVL	1.0	3.0	unscreened	-	3713_11:36615291-36615291 T>A_GDVPEARYGHSIIVVYSRGKSMGVL
5:178460165-178460165 G>T	0.0	3713	MELANOMA	-	-	-	-	ZNF879	uc003mjt.4,p.G406W|NM_001136116,p.G406W|ENST00000444149,p.G406W	protein_coding	uc003mjt.4	nonsynonymous SNV	exon5	c.G1216T	p.G406W	HTGEKPYACKECGKAFSQSSALIQH	HTGEKPYACKECWKAFSQSSALIQH	3.0	8.0	unscreened	-	3713_5:178460165-178460165 G>T_HTGEKPYACKECWKAFSQSSALIQH
17:60865875-60865875 C>T	0.0	3713	MELANOMA	-	-	-	-	MARCH10	uc010ddr.3,p.R59K|uc002jah.2,p.R59K|NM_152598,p.R59K|ENST00000583600,p.R59K|uc002jag.4,p.R59K|ENST00000456609,p.R59K|NM_001288779,p.R59K|ENST00000544856,p.R59K|NM_001100875,p.R59K|uc010dds.3,p.R59K|ENST00000311269,p.R59K|NM_001288780,p.R59K	protein_coding, processed_transcript	uc010dds.3	nonsynonymous SNV	exon3	c.G176A	p.R59K	RDQFWGQETSFERSRFSSRSSSKQS	RDQFWGQETSFEKSRFSSRSSSKQS	1.0	9.0	unscreened	-	3713_17:60865875-60865875 C>T_RDQFWGQETSFEKSRFSSRSSSKQS
15:28951616-28951616 C>T	0.0	3713	MELANOMA	-	-	-	-	GOLGA8M	ENST00000563027,p.D239N|NM_001282468,p.D239N|ENST00000340249,p.D158N	protein_coding, processed_transcript	NM_001282468	nonsynonymous SNV	exon10	c.G715A	p.D239N	LKESFQQVQLERDEYSEHLKGERAR	LKESFQQVQLERNEYSEHLKGERAR	1.0	1.0	unscreened	-	3713_15:28951616-28951616 C>T_LKESFQQVQLERNEYSEHLKGERAR
19:4523788-4523788 G>A	0.0	3713	MELANOMA	-	-	-	-	PLIN5	uc002mas.3,p.L382F|NM_001013706,p.L382F|ENST00000381848,p.L382F	retained_intron, protein_coding	uc002mas.3	nonsynonymous SNV	exon8	c.C1144T	p.L382F	PLPWLVGPFAPILVERPEPLPDLAD	PLPWLVGPFAPIFVERPEPLPDLAD	1.0	2.0	unscreened	-	3713_19:4523788-4523788 G>A_PLPWLVGPFAPIFVERPEPLPDLAD
4:71346607-71346607 C>T	0.0	3713	MELANOMA	-	-	-	-	MUC7	NM_001145006,p.P49L|NM_152291,p.P49L|ENST00000413702,p.P49L|ENST00000304887,p.P49L|ENST00000456088,p.P49L|uc011cau.2,p.P49L|uc011cat.2,p.P49L|NM_001145007,p.P49L|ENST00000505411,p.P49L|uc003hfj.3,p.P49L	retained_intron, protein_coding, processed_transcript	uc011cau.2	nonsynonymous SNV	exon4	c.C146T	p.P49L	QSPKSHFELPHYPGLLAHQKPFIRK	QSPKSHFELPHYLGLLAHQKPFIRK	1.0	6.0	unscreened	-	3713_4:71346607-71346607 C>T_QSPKSHFELPHYLGLLAHQKPFIRK
2:127828379-127828379 C>T	1.0	3713	MELANOMA	-	-	-	-	BIN1	uc002tnw.2,p.R60Q|uc010yzf.2,p.R36Q|ENST00000348750,p.R60Q|NM_139345,p.R60Q|ENST00000409400,p.R60Q|ENST00000376113,p.R60Q|NM_139348,p.R60Q|uc002tny.2,p.R60Q|NM_139346,p.R60Q|uc002toa.2,p.R60Q|uc002tnx.2,p.R60Q|uc002toc.2,p.R60Q|ENST00000352848,p.R60Q|uc002tnv.2,p.R60Q|ENST00000351659,p.R60Q|uc010yzg.2,p.R60Q|uc002tnz.2,p.R60Q|uc002tnt.2,p.R60Q|NM_139349,p.R60Q|NM_139350,p.R60Q|ENST00000393041,p.R60Q|ENST00000259238,p.R60Q|ENST00000357970,p.R60Q|uc002tob.2,p.R60Q|uc002tnu.2,p.R60Q|NM_139347,p.R60Q|ENST00000346226,p.R60Q|ENST00000393040,p.R60Q|ENST00000316724,p.R60Q|NM_139351,p.R60Q|uc002tns.2,p.R60Q|NM_139344,p.R60Q|NM_004305,p.R60Q|NM_139343,p.R60Q	retained_intron, protein_coding, processed_transcript	uc010yzg.2	nonsynonymous SNV	exon3	c.G179A	p.R60Q	VQNFNKQLTEGTRLQKDLRTYLASV	VQNFNKQLTEGTQLQKDLRTYLASV	4.0	1.0	unscreened	-	3713_2:127828379-127828379 C>T_VQNFNKQLTEGTQLQKDLRTYLASV
3:78695302-78695302 C>T	1.0	3713	MELANOMA	-	-	-	-	ROBO1	uc011bgl.1,p.G532R|uc003dqc.2,p.G915R|NM_002941,p.G960R|uc003dqd.2,p.G915R|uc003dqe.2,p.G960R|uc010hoh.2,p.G152R|NM_133631,p.G915R|NM_001145845,p.G915R|ENST00000467549,p.G915R|ENST00000436010,p.G921R|ENST00000464233,p.G960R|uc003dqb.2,p.G921R|ENST00000495273,p.G915R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bgl.1	nonsynonymous SNV	exon11	c.G1594A	p.G532R	TYQRGGEAVSSGGRPGLLNISEPAA	TYQRGGEAVSSGRRPGLLNISEPAA	7.0	2.0	unscreened	-	3713_3:78695302-78695302 C>T_TYQRGGEAVSSGRRPGLLNISEPAA
6:41165951-41165951 G>A	0.0	3713	MELANOMA	-	-	ID=COSM3949209;OCCURENCE=1(lung)	-	TREML2	NM_024807,p.T91I|uc010jxm.1,p.T91I|ENST00000483722,p.T91I	protein_coding	uc010jxm.1	nonsynonymous SNV	exon2	c.C272T	p.T91I	LQDDAQAKVVNITMVALKLQDSGRY	LQDDAQAKVVNIIMVALKLQDSGRY	1.0	9.0	unscreened	-	3713_6:41165951-41165951 G>A_LQDDAQAKVVNIIMVALKLQDSGRY
16:87678064-87678064 G>A	0.0	3713	MELANOMA	-	-	-	-	JPH3	ENST00000284262,p.G195S|NM_020655,p.G195S|uc002fkd.4,p.G195S	protein_coding, processed_transcript	uc002fkd.4	nonsynonymous SNV	exon2	c.G583A	p.G195S	PAVAGSPAVSRGGFVLVAHSDSEIL	PAVAGSPAVSRGSFVLVAHSDSEIL	1.0	7.0	unscreened	-	3713_16:87678064-87678064 G>A_PAVAGSPAVSRGSFVLVAHSDSEIL
11:19077457-19077457 C>T	0.0	3713	MELANOMA	-	-	-	-	MRGPRX2	NM_054030,p.G165R|uc001mph.3,p.G165R|ENST00000329773,p.G165R|uc021qer.1,p.G165R	protein_coding	uc021qer.1	nonsynonymous SNV	exon1	c.G493A	p.G165R	LWALSLLLSILEGKFCGFLFSDGDS	LWALSLLLSILERKFCGFLFSDGDS	1.0	3.0	unscreened	-	3713_11:19077457-19077457 C>T_LWALSLLLSILERKFCGFLFSDGDS
3:14755600-14755600 G>A	0.0	3713	MELANOMA	-	-	-	-	C3orf20	uc003byz.3,p.G294E|uc003bza.3,p.G294E|uc003byy.3,p.G416E|ENST00000435614,p.G294E|ENST00000253697,p.G416E|NM_001184958,p.G294E|NM_032137,p.G416E|ENST00000412910,p.G294E|NM_001184957,p.G294E	protein_coding, processed_transcript	uc003bza.3	nonsynonymous SNV	exon8	c.G881A	p.G294E	GRTITCLFNDIPGFSLLALFNTEGQ	GRTITCLFNDIPEFSLLALFNTEGQ	1.0	4.0	unscreened	-	3713_3:14755600-14755600 G>A_GRTITCLFNDIPEFSLLALFNTEGQ
7:31014632-31014632 G>A	0.0	3713	MELANOMA	-	-	-	-	GHRHR	NM_000823,p.G287R|uc003tbx.3,p.G287R|ENST00000326139,p.G287R|ENST00000409904,p.G223R|uc003tby.3,p.G223R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003tby.3	nonsynonymous SNV	exon6	c.G667A	p.G223R	LDDTSPYWWIIKGPIVLSVGVNFGL	LDDTSPYWWIIKRPIVLSVGVNFGL	1.0	9.0	unscreened	-	3713_7:31014632-31014632 G>A_LDDTSPYWWIIKRPIVLSVGVNFGL
20:57768851-57768851 C>T	0.0	3713	MELANOMA	-	-	-	-	ZNF831	ENST00000371030,p.P926L|uc002yan.3,p.P926L|NM_178457,p.P926L	protein_coding	uc002yan.3	nonsynonymous SNV	exon1	c.C2777T	p.P926L	AEHPSLATPPQAPRVLSALADNAFS	AEHPSLATPPQALRVLSALADNAFS	3.0	5.0	unscreened	-	3713_20:57768851-57768851 C>T_AEHPSLATPPQALRVLSALADNAFS
14:104643606-104643606 C>T	0.0	3713	MELANOMA	-	-	-	-	KIF26A	ENST00000315264,p.P1355L|ENST00000423312,p.P1494L|NM_015656,p.P1494L|uc001yos.4,p.P1494L	protein_coding	uc001yos.4	nonsynonymous SNV	exon12	c.C4481T	p.P1494L	SGAAKAVGAPKPPVGGGKGRGLVAG	SGAAKAVGAPKPLVGGGKGRGLVAG	1.0	9.0	unscreened	-	3713_14:104643606-104643606 C>T_SGAAKAVGAPKPLVGGGKGRGLVAG
14:19553885-19553885 C>A	0.0	3713	MELANOMA	-	-	-	-	POTEG	NM_001005356,p.L157I|uc001vuz.1,p.L157I|ENST00000547889,p.L157I|ENST00000552966,p.L157I|ENST00000409832,p.L157I	protein_coding, nonsense_mediated_decay	uc001vuz.1	nonsynonymous SNV	exon1	c.C469A	p.L157I	RAAWWGKVPRKDLIVMLKDTDMNKK	RAAWWGKVPRKDIIVMLKDTDMNKK	1.0	1.0	unscreened	-	3713_14:19553885-19553885 C>A_RAAWWGKVPRKDIIVMLKDTDMNKK
9:113449500-113449500 G>A	1.0	3713	MELANOMA	-	-	-	-	MUSK	uc022blu.1,p.G104S|NM_001166281,p.G104S|uc004bez.2,p.G104S|ENST00000189978,p.G104S|NM_005592,p.G104S|uc022blt.1,p.G104S|uc022blv.1,p.G104S|NM_001166280,p.G104S|ENST00000416899,p.G104S|ENST00000374448,p.G104S	protein_coding	uc022blv.1	nonsynonymous SNV	exon3	c.G310A	p.G104S	SDDGIYCCTANNGVGGAVESCGALQ	SDDGIYCCTANNSVGGAVESCGALQ	1.0	10.0	-	-	3713_9:113449500-113449500 G>A_SDDGIYCCTANNSVGGAVESCGALQ
20:239766-239766 G>A	0.0	3713	MELANOMA	-	-	-	-	DEFB132	uc002wdb.3,p.R36K|NM_207469,p.R36K|ENST00000382376,p.R36K	protein_coding	uc002wdb.3	nonsynonymous SNV	exon2	c.G107A	p.R36K	GSKCVSNTPGYCRTCCHWGETALFM	GSKCVSNTPGYCKTCCHWGETALFM	1.0	1.0	unscreened	-	3713_20:239766-239766 G>A_GSKCVSNTPGYCKTCCHWGETALFM
7:148876324-148876324 C>T	1.0	3713	MELANOMA	-	-	-	-	ZNF398	ENST00000426851,p.P283S|ENST00000475153,p.P454S|ENST00000491174,p.P283S|NM_020781,p.P283S|ENST00000540950,p.P459S|NM_170686,p.P454S|ENST00000335901,p.P283S|uc011kum.2,p.P459S|uc003wfl.3,p.P454S|ENST00000483892,p.P283S|uc011kul.2,p.P283S|ENST00000420008,p.P283S	protein_coding, processed_transcript	uc011kum.2	nonsynonymous SNV	exon7	c.C1375T	p.P459S	LTSHRRAHASERPFRCAQCGRSFSL	LTSHRRAHASERSFRCAQCGRSFSL	5.0	6.0	unscreened	-	3713_7:148876324-148876324 C>T_LTSHRRAHASERSFRCAQCGRSFSL
6:84388517-84388517 C>T	0.0	3713	MELANOMA	-	-	-	-	SNAP91	uc003pkb.3,p.R2K|NM_001256717,p.R2K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pkb.3	nonsynonymous SNV	exon5	c.G5A	p.R2K	MRAFKNNNNLIQAT	MKAFKNNNNLIQAT	1.0	8.0	unscreened	-	3713_6:84388517-84388517 C>T_MKAFKNNNNLIQAT
19:55672080-55672080 G>A	1.0	3713	MELANOMA	-	-	-	-	DNAAF3	uc002qji.2,p.R326C|NM_001256714,p.R394C|ENST00000455045,p.R272C|NM_001256716,p.R272C|uc002qjl.2,p.R394C|uc002qjj.2,p.R373C|uc002qjk.2,p.R272C|NM_178837,p.R373C|ENST00000527223,p.R394C|ENST00000524407,p.R326C|ENST00000391720,p.R373C|uc002qjh.2,p.R141C|NM_001256715,p.R326C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002qjl.2	nonsynonymous SNV	exon9	c.C1180T	p.R394C	VTELLRDVAAWGRARATGGDLEEQQ	VTELLRDVAAWGCARATGGDLEEQQ	1.0	10.0	unscreened	-	3713_19:55672080-55672080 G>A_VTELLRDVAAWGCARATGGDLEEQQ
10:90332759-90332761 CCC>-	1.0	3713	MELANOMA	-	-	-	-	RNLS	NM_001031709,p.142_143del|NM_018363,p.142_143del|ENST00000371947,p.142_143del|uc010qms.1,p.59_60del|ENST00000437752,p.59_60del|ENST00000331772,p.142_143del|uc001kfe.3,p.142_143del|uc001kfd.2,p.142_143del	protein_coding, processed_transcript	uc010qms.1	nonframeshift deletion	exon2	c.176_178del	p.59_60del	HRVTQINLRDDKWEVSKQTGSPEQF	HRVTQINLRDDKVSKQTGSPEQFD	4.0	9.0	unscreened	-	3713_10:90332759-90332761 CCC>-_HRVTQINLRDDKVSKQTGSPEQFD
10:106849555-106849555 G>A	0.0	3713	MELANOMA	-	-	-	-	SORCS3	NM_014978,p.E351K|uc001kyi.1,p.E351K|ENST00000369701,p.E351K	protein_coding	uc001kyi.1	nonsynonymous SNV	exon6	c.G1051A	p.E351K	NRFYWSVAGLDKEADLVHMEVRTTD	NRFYWSVAGLDKKADLVHMEVRTTD	1.0	5.0	unscreened	-	3713_10:106849555-106849555 G>A_NRFYWSVAGLDKKADLVHMEVRTTD
2:21247909-21247909 G>A	0.0	3713	MELANOMA	-	-	-	-	APOB	NM_000384,p.R778C|uc002red.3,p.R778C|ENST00000233242,p.R778C|ENST00000399256,p.R778C	protein_coding	uc002red.3	nonsynonymous SNV	exon16	c.C2332T	p.R778C	KSKEVPEARAYLRILGEELGFASLH	KSKEVPEARAYLCILGEELGFASLH	1.0	4.0	unscreened	-	3713_2:21247909-21247909 G>A_KSKEVPEARAYLCILGEELGFASLH
17:6718620-6718620 T>C	0.0	3713	MELANOMA	-	-	-	-	TEKT1	uc002gdt.3,p.N164S|uc010vth.2,p.N18S|ENST00000535086,p.N18S|NM_053285,p.N164S|ENST00000338694,p.N164S	retained_intron, protein_coding, nonsense_mediated_decay	uc010vth.2	nonsynonymous SNV	exon4	c.A53G	p.N18S	RTLEEASEQIRMNRSAKYNLEKDLK	RTLEEASEQIRMSRSAKYNLEKDLK	1.0	10.0	unscreened	-	3713_17:6718620-6718620 T>C_RTLEEASEQIRMSRSAKYNLEKDLK
10:115381711-115381711 T>G	0.0	3713	MELANOMA	-	-	-	-	NRAP	ENST00000369358,p.K904Q|uc001laj.4,p.K896Q|ENST00000359988,p.K896Q|ENST00000360478,p.K861Q|uc001lak.4,p.K861Q|NM_001261463,p.K896Q|uc001lal.4,p.K896Q|NM_198060,p.K896Q|ENST00000369360,p.K869Q|NM_006175,p.K861Q	protein_coding	uc001lal.4	nonsynonymous SNV	exon24	c.A2686C	p.K896Q	RKAQHLATDVGYKTAEHHFTALPTD	RKAQHLATDVGYQTAEHHFTALPTD	1.0	9.0	unscreened	-	3713_10:115381711-115381711 T>G_RKAQHLATDVGYQTAEHHFTALPTD
X:138643811-138643811 G>A	0.0	3713	MELANOMA	0.0006	-	ID=COSM24388;OCCURENCE=1(lung)	-	F9	uc004fas.1,p.E323K|uc004fat.1,p.E285K|ENST00000218099,p.E323K|ENST00000394090,p.E285K|NM_000133,p.E323K	protein_coding, processed_transcript	uc004fat.1	nonsynonymous SNV	exon7	c.G853A	p.E285K	KYNHDIALLELDEPLVLNSYVTPIC	KYNHDIALLELDKPLVLNSYVTPIC	1.0	7.0	unscreened	-	3713_X:138643811-138643811 G>A_KYNHDIALLELDKPLVLNSYVTPIC
X:30269586-30269586 C>T	0.0	3713	MELANOMA	0.0	-	-	-	MAGEB1	ENST00000397550,p.R326C|NM_002363,p.R326C|uc004dce.3,p.R326C|NM_177415,p.R326C|uc004dcc.3,p.R326C|uc022buh.1,p.R326C|ENST00000397548,p.R326C|NM_177404,p.R326C|ENST00000378981,p.R326C|uc004dcd.3,p.R326C	protein_coding	uc022buh.1	nonsynonymous SNV	exon1	c.C976T	p.R326C	RAQVRSSVRARRRTTATTFRARSRA	RAQVRSSVRARRCTTATTFRARSRA	1.0	10.0	unscreened	-	3713_X:30269586-30269586 C>T_RAQVRSSVRARRCTTATTFRARSRA
7:100685636-100685636 G>A	0.0	3713	MELANOMA	-	-	-	-	MUC17	uc003uxp.1,p.V3647M|NM_001040105,p.V3647M|ENST00000306151,p.V3647M|ENST00000379439,p.V3647M	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.G10939A	p.V3647M	TPLTIMPVSTTSVTISEAGTASTLP	TPLTIMPVSTTSMTISEAGTASTLP	1.0	7.0	unscreened	-	3713_7:100685636-100685636 G>A_TPLTIMPVSTTSMTISEAGTASTLP
2:152424916-152424916 C>A	0.0	3713	MELANOMA	-	-	-	-	NEB	NM_001164507,p.D5884Y|uc021vrd.1,p.D4183Y|uc002txu.3,p.D5884Y|uc002txr.3,p.D649Y|ENST00000397345,p.D5884Y|uc021vrb.1,p.D4183Y|ENST00000409198,p.D4183Y|NM_001164508,p.D5884Y|NM_001271208,p.D5884Y|ENST00000603639,p.D5884Y|ENST00000413693,p.D614Y|ENST00000427231,p.D5884Y|uc031rpp.1,p.D5884Y|uc021vrc.1,p.D5884Y|ENST00000604864,p.D5884Y|ENST00000172853,p.D4183Y	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon112	c.G17650T	p.D5884Y	SGEILDDIKYRKDWNATKSKYTLTE	SGEILDDIKYRKYWNATKSKYTLTE	2.0	9.0	unscreened	-	3713_2:152424916-152424916 C>A_SGEILDDIKYRKYWNATKSKYTLTE
9:127230936-127230936 C>T	0.0	3713	MELANOMA	-	-	-	-	PSMB7,NR5A1	uc010mwo.1,p.P45L	protein_coding	uc010mwo.1	nonsynonymous SNV	exon1	c.C134T	p.P45L	CEHAPGPRHAALPRHRLGATVKPVL	CEHAPGPRHAALLRHRLGATVKPVL	1.0	1.0	unscreened	-	3713_9:127230936-127230936 C>T_CEHAPGPRHAALLRHRLGATVKPVL
14:94395344-94395344 G>A	0.0	3713	MELANOMA	-	-	-	-	FAM181A	NM_001207073,p.S238N|ENST00000267594,p.S300N|NM_001207071,p.S238N|uc021saz.1,p.S238N|uc010aus.2,p.S238N|uc021say.1,p.S238N|uc001ybz.2,p.S300N|NM_001207072,p.S238N|uc031qqc.1,p.S238N|ENST00000557000,p.S238N|NM_138344,p.S300N|ENST00000556222,p.S238N|NM_001207074,p.S238N|uc001yca.2,p.S238N|ENST00000557719,p.S238N	protein_coding	uc031qqc.1	nonsynonymous SNV	exon1	c.G713A	p.S238N	GPLGALPQSPVPSLGLWRKSPAFPG	GPLGALPQSPVPNLGLWRKSPAFPG	1.0	2.0	unscreened	-	3713_14:94395344-94395344 G>A_GPLGALPQSPVPNLGLWRKSPAFPG
11:130275559-130275559 C>T	0.0	3713	MELANOMA	-	-	-	-	ADAMTS8	NM_007037,p.R855Q|uc001qgf.3,p.R336Q|ENST00000257359,p.R855Q|uc001qgg.4,p.R855Q	retained_intron, protein_coding	uc001qgg.4	nonsynonymous SNV	exon9	c.G2564A	p.R855Q	ECSSTCGAGWQRRTVECRDPSGQAS	ECSSTCGAGWQRQTVECRDPSGQAS	1.0	9.0	unscreened	-	3713_11:130275559-130275559 C>T_ECSSTCGAGWQRQTVECRDPSGQAS
2:70188586-70188586 G>A	0.0	3713	MELANOMA	-	-	-	-	ASPRV1	NM_152792,p.P79S|ENST00000320256,p.P79S|uc002sfz.4,p.P79S	protein_coding	uc002sfz.4	nonsynonymous SNV	exon1	c.C235T	p.P79S	GFLFLAWVAAEVPEESSRMAGSGAR	GFLFLAWVAAEVSEESSRMAGSGAR	1.0	10.0	unscreened	-	3713_2:70188586-70188586 G>A_GFLFLAWVAAEVSEESSRMAGSGAR
7:93098051-93098051 G>A	0.0	3713	MELANOMA	-	-	-	-	CALCR	uc003umw.2,p.S166F|NM_001164738,p.S166F|ENST00000394441,p.S166F|NM_001742,p.S166F|ENST00000415529,p.S166F|uc022ahi.1,p.S166F|ENST00000426151,p.S166F	protein_coding, nonsense_mediated_decay	uc022ahi.1	nonsynonymous SNV	exon6	c.C497T	p.S166F	VGHSLSIFTLVISLGIFVFFRSLGC	VGHSLSIFTLVIFLGIFVFFRSLGC	1.0	9.0	unscreened	-	3713_7:93098051-93098051 G>A_VGHSLSIFTLVIFLGIFVFFRSLGC
5:140306769-140306769 G>A	0.0	3713	MELANOMA	-	-	-	-	PCDHAC1	uc003lig.1,p.D98N|ENST00000253807,p.D98N|uc003lih.2,p.D98N|ENST00000409700,p.D98N|NM_018898,p.D98N|NM_031882,p.D98N	protein_coding	uc003lih.2	nonsynonymous SNV	exon1	c.G292A	p.D98N	LCRAKAACVLTYDLVLEDPLELHKI	LCRAKAACVLTYNLVLEDPLELHKI	1.0	3.0	unscreened	-	3713_5:140306769-140306769 G>A_LCRAKAACVLTYNLVLEDPLELHKI
1:57254778-57254778 G>A	0.0	3713	MELANOMA	-	-	-	-	C1orf168	uc001cym.4,p.L263F|ENST00000343433,p.L263F|NM_001004303,p.L263F|uc009vzv.1,p.L263F	retained_intron, protein_coding, processed_transcript	uc009vzv.1	nonsynonymous SNV	exon3	c.C787T	p.L263F	APEKQPDVRHHHLPKTKPLPSIDSL	APEKQPDVRHHHFPKTKPLPSIDSL	1.0	10.0	unscreened	-	3713_1:57254778-57254778 G>A_APEKQPDVRHHHFPKTKPLPSIDSL
20:58606428-58606428 G>A	0.0	3713	MELANOMA	-	-	-	-	CDH26,C20orf197	ENST00000244047,p.G772E|uc002ybf.1,p.G352E	protein_coding, processed_transcript	uc002ybf.1	nonsynonymous SNV	exon8	c.G1055A	p.G352E	PRRLTQTGKRKHGALARTPSFKKVV	PRRLTQTGKRKHEALARTPSFKKVV	2.0	2.0	unscreened	-	3713_20:58606428-58606428 G>A_PRRLTQTGKRKHEALARTPSFKKVV
10:50025443-50025443 G>A	0.0	3713	MELANOMA	-	-	-	-	WDFY4	NM_020945,p.G1832R|ENST00000325239,p.G1832R|uc001jha.4,p.G1832R|uc001jhb.1,p.G360R	protein_coding, processed_transcript	uc001jhb.1	nonsynonymous SNV	exon9	c.G1078A	p.G360R	FLQTLAIAAFPLGAQKGVGAESTRN	FLQTLAIAAFPLRAQKGVGAESTRN	3.0	2.0	unscreened	-	3713_10:50025443-50025443 G>A_FLQTLAIAAFPLRAQKGVGAESTRN
7:123256492-123256492 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1699303,COSM1699302;OCCURENCE=1(skin)	-	ASB15	ENST00000437535,p.P79S|NM_001290258,p.P79S|uc003vku.1,p.P79S|ENST00000451215,p.P79S|ENST00000540573,p.P79S|ENST00000451558,p.P79S|NM_080928,p.P79S|ENST00000275699,p.P79S|ENST00000434204,p.P79S|ENST00000447789,p.P79S|uc003vkv.1,p.P79S|uc003vkw.1,p.P79S	protein_coding	uc003vkw.1	nonsynonymous SNV	exon4	c.C235T	p.P79S	YAMDEADEKGWFPLHEAVVQPIQQI	YAMDEADEKGWFSLHEAVVQPIQQI	1.0	1.0	unscreened	-	3713_7:123256492-123256492 C>T_YAMDEADEKGWFSLHEAVVQPIQQI
12:2676942-2676942 G>A	0.0	3713	MELANOMA	-	-	-	-	CACNA1C	NM_001129835,p.R626K|uc001qkq.2,p.R626K|uc001qko.2,p.R626K|NM_001129829,p.R626K|uc001qkf.2,p.R626K|NM_000719,p.R626K|uc001qkn.2,p.R626K|NM_001129840,p.R626K|uc001qkt.2,p.R626K|NM_001129834,p.R626K|NM_001129833,p.R626K|NM_001129839,p.R626K|ENST00000399649,p.R626K|ENST00000399597,p.R626K|ENST00000327702,p.R626K|uc009zdv.1,p.R623K|uc001qkp.2,p.R626K|NM_001167625,p.R626K|NM_001167624,p.R626K|NM_001167623,p.R626K|ENST00000399617,p.R626K|NM_001129830,p.R626K|uc001qku.2,p.R626K|uc001qkd.2,p.R626K|NM_001129831,p.R626K|ENST00000399595,p.R626K|uc009zdw.1,p.R626K|ENST00000399591,p.R626K|uc001qkr.2,p.R626K|ENST00000347598,p.R626K|ENST00000480911,p.R626K|uc001qkg.2,p.R626K|uc001qkh.2,p.R626K|uc001qks.2,p.R626K|uc001qka.1,p.R161K|NM_001129827,p.R626K|NM_001129832,p.R626K|ENST00000399629,p.R626K|ENST00000399601,p.R626K|ENST00000406454,p.R626K|uc001qki.1,p.R362K|ENST00000402845,p.R626K|uc001qkk.2,p.R626K|uc001qjz.2,p.R626K|NM_001129836,p.R626K|uc001qkl.2,p.R626K|ENST00000399606,p.R626K|NM_001129843,p.R626K|ENST00000399655,p.R626K|ENST00000399637,p.R626K|uc009zdu.1,p.R626K|ENST00000344100,p.R626K|NM_001129844,p.R623K|ENST00000399638,p.R626K|NM_001129838,p.R626K|ENST00000399603,p.R626K|ENST00000399644,p.R626K|uc001qkb.2,p.R626K|uc001qkj.2,p.R626K|ENST00000399641,p.R626K|ENST00000399634,p.R626K|NM_001129837,p.R626K|ENST00000335762,p.R651K|uc001qke.2,p.R626K|NM_001129842,p.R626K|ENST00000399621,p.R626K|NM_001129841,p.R626K|uc001qkm.2,p.R626K|NM_199460,p.R626K|NM_001129846,p.R626K|uc001qkc.2,p.R626K	retained_intron, protein_coding, processed_transcript	uc009zdw.1	nonsynonymous SNV	exon13	c.G1877A	p.R626K	LGISVLRCVRLLRIFKITRYWNSLS	LGISVLRCVRLLKIFKITRYWNSLS	2.0	9.0	unscreened	-	3713_12:2676942-2676942 G>A_LGISVLRCVRLLKIFKITRYWNSLS
1:2430594-2430594 C>A	0.0	3713	MELANOMA	-	-	-	-	PLCH2	ENST00000378486,p.L836I|NM_014638,p.L836I|uc001ajj.1,p.L624I|ENST00000378488,p.L800I|ENST00000449969,p.L809I|uc009vle.1,p.L588I|uc001ajk.1,p.L624I|ENST00000288766,p.L124I|ENST00000419816,p.L836I|uc010nyz.2,p.L624I	retained_intron, protein_coding, processed_transcript	uc010nyz.2	nonsynonymous SNV	exon16	c.C1870A	p.L624I	MVHMPEIALVRFLVWDHDPIGRDFI	MVHMPEIALVRFIVWDHDPIGRDFI	2.0	4.0	unscreened	-	3713_1:2430594-2430594 C>A_MVHMPEIALVRFIVWDHDPIGRDFI
X:37028731-37028731 C>T	0.0	3713	MELANOMA	-	-	-	2	FAM47C	NM_001013736,p.L750F|ENST00000358047,p.L750F|uc004ddl.2,p.L750F	protein_coding	uc004ddl.2	nonsynonymous SNV	exon1	c.C2248T	p.L750F	LRPEPPKPRVSSLRPEPLETRVSHL	LRPEPPKPRVSSFRPEPLETRVSHL	1.0	10.0	unscreened	-	3713_X:37028731-37028731 C>T_LRPEPPKPRVSSFRPEPLETRVSHL
6:114379002-114379002 C>T	1.0	3713	MELANOMA	-	-	ID=COSM232508;OCCURENCE=1(skin)	-	HS3ST5	uc003pwg.4,p.E154K|uc003pwh.4,p.E154K|ENST00000411826,p.E154K|ENST00000312719,p.E154K|NM_153612,p.E154K	protein_coding, processed_transcript	uc003pwh.4	nonsynonymous SNV	exon5	c.G460A	p.E154K	KMPFSYPQQITIEKSPAYFITEEVP	KMPFSYPQQITIKKSPAYFITEEVP	1.0	3.0	unscreened	-	3713_6:114379002-114379002 C>T_KMPFSYPQQITIKKSPAYFITEEVP
5:40928728-40928728 G>A	0.0	3713	MELANOMA	-	-	-	-	C7	uc003jmh.3,p.S18N|ENST00000313164,p.S18N|NM_000587,p.S18N	retained_intron, protein_coding, processed_transcript	uc003jmh.3	nonsynonymous SNV	exon2	c.G53A	p.S18N	LFILVGFIGEFQSFSSASSPVNCQW	LFILVGFIGEFQNFSSASSPVNCQW	7.0	5.0	unscreened	-	3713_5:40928728-40928728 G>A_LFILVGFIGEFQNFSSASSPVNCQW
5:42713597-42713597 T>C	0.0	3713	MELANOMA	-	-	-	-	GHR	uc021xyd.1,p.V262A|uc003jmt.3,p.V284A|ENST00000537449,p.V97A|uc021xya.1,p.V284A|NM_001242406,p.V284A|NM_001242404,p.V284A|uc003jmv.2,p.V284A|NM_001242405,p.V284A|uc021xxz.1,p.V284A|uc021xxw.1,p.V284A|uc021xxv.1,p.V291A|uc011cpq.2,p.V97A|NM_001242403,p.V284A|uc021xxx.1,p.V284A|NM_001242401,p.V284A|uc003jmu.3,p.V284A|ENST00000230882,p.V284A|NM_001242460,p.V262A|ENST00000357703,p.V262A|NM_001242399,p.V291A|NM_000163,p.V284A|uc021xxy.1,p.V284A|NM_001242402,p.V284A|NM_001242400,p.V284A	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xyd.1	nonsynonymous SNV	exon6	c.T785C	p.V262A	IFGIFGLTVMLFVFLFSKQQRIKML	IFGIFGLTVMLFAFLFSKQQRIKML	1.0	10.0	unscreened	-	3713_5:42713597-42713597 T>C_IFGIFGLTVMLFAFLFSKQQRIKML
17:18654344-18654344 C>T	0.0	3713	MELANOMA	-	-	-	-	FBXW10	uc002guk.3,p.P367L|uc002gul.3,p.P396L|ENST00000395665,p.P367L|NM_001267586,p.P367L|NM_001267585,p.P367L|uc031qze.1,p.P131L|uc010cqh.2,p.P367L|ENST00000301938,p.P367L|ENST00000308799,p.P396L|ENST00000395667,p.P367L	protein_coding, processed_transcript, nonsense_mediated_decay	uc031qze.1	nonsynonymous SNV	exon5	c.C392T	p.P131L	MVDDGKSMRVKHPKWKLRTKNEYNL	MVDDGKSMRVKHLKWKLRTKNEYNL	1.0	10.0	unscreened	-	3713_17:18654344-18654344 C>T_MVDDGKSMRVKHLKWKLRTKNEYNL
3:49689283-49689283 C>T	0.0	3713	MELANOMA	-	-	-	-	BSN	ENST00000296452,p.S765F|uc003cxe.4,p.S765F|NM_003458,p.S765F	retained_intron, protein_coding	uc003cxe.4	nonsynonymous SNV	exon5	c.C2294T	p.S765F	TGEEQKQRPHSLSITPEAFDSDEEL	TGEEQKQRPHSLFITPEAFDSDEEL	1.0	10.0	unscreened	-	3713_3:49689283-49689283 C>T_TGEEQKQRPHSLFITPEAFDSDEEL
6:117245850-117245850 G>A	0.0	3713	MELANOMA	-	-	ID=COSM284561;OCCURENCE=2(large_intestine),1(oesophagus)	-	RFX6	ENST00000332958,p.R525Q|uc003pxm.3,p.R525Q|NM_173560,p.R525Q	retained_intron, protein_coding, processed_transcript	uc003pxm.3	nonsynonymous SNV	exon15	c.G1574A	p.R525Q	NNASSFGSFHLIRMLLDEYILLAME	NNASSFGSFHLIQMLLDEYILLAME	1.0	3.0	unscreened	-	3713_6:117245850-117245850 G>A_NNASSFGSFHLIQMLLDEYILLAME
14:24845620-24845620 C>T	1.0	3713	MELANOMA	-	-	-	-	NFATC4	ENST00000250373,p.P726L|ENST00000553469,p.P758L|uc010tol.2,p.P789L|NM_004554,p.P726L|uc010toq.2,p.P758L|ENST00000555393,p.P14L|uc010top.2,p.P758L|uc010tov.2,p.P714L|ENST00000555167,p.P261L|uc010tos.2,p.P656L|uc010too.2,p.P739L|uc010alv.3,p.P714L|uc001wpd.3,p.P261L|uc001wpc.3,p.P726L|NM_001198966,p.P656L|ENST00000557767,p.P14L|uc010tok.2,p.P789L|uc010tox.2,p.P656L|ENST00000554050,p.P726L|ENST00000422617,p.P714L|ENST00000556759,p.P261L|ENST00000556169,p.P714L|uc010tow.2,p.P656L|uc010toy.2,p.P261L|ENST00000555802,p.P14L|ENST00000554966,p.P739L|ENST00000553708,p.P726L|ENST00000555453,p.P714L|uc010alt.3,p.P758L|uc010tor.2,p.P726L|ENST00000424781,p.P739L|ENST00000554473,p.P261L|uc010tom.2,p.P739L|uc010tou.2,p.P656L|ENST00000556279,p.P758L|ENST00000557451,p.P656L|uc010tpb.2,p.P14L|ENST00000539237,p.P758L|ENST00000554661,p.P656L|ENST00000555590,p.P739L|uc010tot.2,p.P714L|uc010ton.2,p.P739L|uc010tpa.2,p.P14L|ENST00000413692,p.P789L|uc010alr.3,p.P789L|NM_001136022,p.P789L|ENST00000553879,p.P656L|NM_001288802,p.P714L|ENST00000554591,p.P789L|ENST00000554344,p.P656L|NM_001198965,p.P726L|NM_001198967,p.P789L|uc010toz.2,p.P261L	retained_intron, protein_coding, processed_transcript	uc010tpb.2	nonsynonymous SNV	exon4	c.C41T	p.P14L	DFSPPRPPYPSYPHEDPACETPYLS	DFSPPRPPYPSYLHEDPACETPYLS	4.0	6.0	-	-	3713_14:24845620-24845620 C>T_DFSPPRPPYPSYLHEDPACETPYLS
11:121448013-121448013 G>A	0.0	3713	MELANOMA	-	-	-	-	SORL1	NM_003105,p.E1162K|ENST00000525532,p.E106K|uc001pxx.3,p.E1162K|ENST00000260197,p.E1162K	retained_intron, protein_coding, processed_transcript	uc001pxx.3	nonsynonymous SNV	exon25	c.G3484A	p.E1162K	ESHCEMHQCRSDEYNCSSGMCIRSS	ESHCEMHQCRSDKYNCSSGMCIRSS	5.0	10.0	unscreened	-	3713_11:121448013-121448013 G>A_ESHCEMHQCRSDKYNCSSGMCIRSS
2:179592998-179592998 C>T	0.0	3713	MELANOMA	-	-	-	-	TTN	uc031rqc.1,p.G6518E|NM_133378,p.G5274E|ENST00000589042,p.G6518E|uc031rqd.1,p.G6201E|uc021vsy.2,p.G5274E|NM_001256850,p.G6201E|ENST00000591111,p.G6201E|NM_001267550,p.G6518E|uc002umz.1,p.G1935E|ENST00000342992,p.G5274E	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon65	c.G18602A	p.G6201E	GSLPISAQWFKDGKEISTSAKYRLV	GSLPISAQWFKDEKEISTSAKYRLV	1.0	4.0	unscreened	-	3713_2:179592998-179592998 C>T_GSLPISAQWFKDEKEISTSAKYRLV
12:2690881-2690881 G>A	0.0	3713	MELANOMA	-	-	ID=COSM375183,COSM375184,COSM375185;OCCURENCE=1(lung)	-	CACNA1C	ENST00000399591,p.G674E|NM_001167623,p.G674E|ENST00000399649,p.G674E|NM_001129842,p.G674E|uc001qku.2,p.G674E|NM_001129835,p.G674E|uc001qkh.2,p.G674E|NM_001129846,p.G674E|NM_001129841,p.G674E|ENST00000335762,p.G699E|NM_001129834,p.G674E|uc001qke.2,p.G674E|uc001qko.2,p.G674E|uc001qkd.2,p.G674E|uc001qkl.2,p.G674E|ENST00000399638,p.G674E|ENST00000399597,p.G674E|uc001qkf.2,p.G674E|uc001qjz.2,p.G674E|uc009zdw.1,p.G674E|uc001qkr.2,p.G674E|NM_001129840,p.G674E|NM_001129833,p.G674E|NM_001129838,p.G674E|ENST00000399603,p.G674E|ENST00000399621,p.G674E|uc001qkt.2,p.G674E|NM_001129827,p.G674E|ENST00000399601,p.G674E|uc001qkb.2,p.G674E|uc001qka.1,p.G209E|NM_001129844,p.G671E|ENST00000399644,p.G674E|uc001qks.2,p.G674E|uc001qkm.2,p.G674E|NM_001129831,p.G674E|NM_001129837,p.G674E|ENST00000399617,p.G674E|ENST00000402845,p.G674E|uc009zdu.1,p.G674E|NM_001129832,p.G674E|NM_199460,p.G674E|ENST00000480911,p.G674E|uc001qkp.2,p.G674E|NM_001129836,p.G674E|uc001qkk.2,p.G674E|uc001qkq.2,p.G674E|ENST00000399629,p.G674E|uc001qkn.2,p.G674E|ENST00000399606,p.G674E|NM_000719,p.G674E|ENST00000399637,p.G674E|uc001qkg.2,p.G674E|NM_001129830,p.G674E|uc001qkc.2,p.G674E|NM_001167625,p.G674E|ENST00000406454,p.G674E|ENST00000399595,p.G674E|ENST00000399641,p.G674E|ENST00000399634,p.G674E|ENST00000347598,p.G674E|NM_001129839,p.G674E|ENST00000344100,p.G674E|ENST00000327702,p.G674E|NM_001129843,p.G674E|NM_001129829,p.G674E|NM_001167624,p.G674E|uc009zdv.1,p.G671E|uc001qkj.2,p.G674E|ENST00000399655,p.G674E|uc001qki.1,p.G410E	retained_intron, protein_coding, processed_transcript	uc009zdw.1	nonsynonymous SNV	exon14	c.G2021A	p.G674E	IIIFSLLGMQLFGGKFNFDEMQTRR	IIIFSLLGMQLFEGKFNFDEMQTRR	2.0	4.0	unscreened	-	3713_12:2690881-2690881 G>A_IIIFSLLGMQLFEGKFNFDEMQTRR
13:39587525-39587525 G>A	1.0	3713	MELANOMA	-	-	-	-	PROSER1	ENST00000350125,p.P600S|NM_025138,p.P622S|uc001uwy.4,p.P622S|ENST00000352251,p.P622S	protein_coding, processed_transcript	uc001uwy.4	nonsynonymous SNV	exon11	c.C1864T	p.P622S	EPTSPTPSAFKGPSHSGNPSHGTLG	EPTSPTPSAFKGSSHSGNPSHGTLG	7.0	10.0	-	-	3713_13:39587525-39587525 G>A_EPTSPTPSAFKGSSHSGNPSHGTLG
16:24226087-24226087 G>A	0.0	3713	MELANOMA	-	-	-	2	PRKCB	NM_002738,p.G658R|ENST00000303531,p.G658R|uc002dme.3,p.G658R	retained_intron, protein_coding, processed_transcript	uc002dme.3	nonsynonymous SNV	exon17	c.G1972A	p.G658R	EVIRNIDQSEFEGFSFVNSEFLKPE	EVIRNIDQSEFERFSFVNSEFLKPE	3.0	4.0	unscreened	-	3713_16:24226087-24226087 G>A_EVIRNIDQSEFERFSFVNSEFLKPE
1:207697078-207697078 G>A	0.0	3713	MELANOMA	-	-	-	-	CR1	ENST00000400960,p.V204M|ENST00000534202,p.V204M|uc001hfy.3,p.V204M|uc009xcl.1,p.V204M|ENST00000367053,p.V204M|ENST00000367049,p.V204M|uc001hfx.3,p.V204M|uc009xck.1,p.V204M|uc009xcj.1,p.V204M|NM_000573,p.V204M|ENST00000367052,p.V204M|uc021pij.1,p.V204M|NM_000651,p.V204M	retained_intron, protein_coding, processed_transcript	uc021pij.1	nonsynonymous SNV	exon5	c.G610A	p.V204M	TYRCNPGSGGRKVFELVGEPSIYCT	TYRCNPGSGGRKMFELVGEPSIYCT	3.0	3.0	unscreened	-	3713_1:207697078-207697078 G>A_TYRCNPGSGGRKMFELVGEPSIYCT
1:167086768-167086768 G>A	0.0	3713	MELANOMA	-	-	-	-	DUSP27	uc001geb.1,p.V137I|ENST00000443333,p.V137I|NM_001080426,p.V137I|ENST00000361200,p.V137I|ENST00000271385,p.V137I	protein_coding, processed_transcript	uc001geb.1	nonsynonymous SNV	exon3	c.G409A	p.V137I	DRQEAPWNEVDEVWPNVFIAEKSVA	DRQEAPWNEVDEIWPNVFIAEKSVA	1.0	5.0	unscreened	-	3713_1:167086768-167086768 G>A_DRQEAPWNEVDEIWPNVFIAEKSVA
1:157660052-157660052 A>T	0.0	3713	MELANOMA	-	-	-	-	FCRL3	uc001fqz.4,p.N561K|ENST00000368186,p.N561K|ENST00000477837,p.N466K|uc001frc.1,p.N561K|ENST00000368184,p.N561K|uc001fra.3,p.N287K|uc001frb.3,p.N561K|NM_052939,p.N561K|ENST00000485028,p.N561K|ENST00000492769,p.N567K	protein_coding, processed_transcript, nonsense_mediated_decay	uc001frc.1	nonsynonymous SNV	exon9	c.T1683A	p.N561K	GLGAQHSKVVTLNVTGTSRNRTGLT	GLGAQHSKVVTLKVTGTSRNRTGLT	5.0	8.0	unscreened	-	3713_1:157660052-157660052 A>T_GLGAQHSKVVTLKVTGTSRNRTGLT
2:241808675-241808675 C>T	0.0	3713	MELANOMA	-	-	-	-	AGXT	NM_000030,p.A85V|ENST00000307503,p.A85V|uc002waa.4,p.A85V|uc010zoi.1,p.A85V	retained_intron, protein_coding	uc010zoi.1	nonsynonymous SNV	exon2	c.C254T	p.A85V	PLTLVISGSGHCALEAALVNVLEPG	PLTLVISGSGHCVLEAALVNVLEPG	1.0	6.0	unscreened	-	3713_2:241808675-241808675 C>T_PLTLVISGSGHCVLEAALVNVLEPG
12:50186677-50186677 G>A	1.0	3713	MELANOMA	-	-	-	-	NCKAP5L	uc001rvb.2,p.P738S|NM_001037806,p.P1145S|uc001rvc.3,p.P349S|ENST00000335999,p.P1145S|uc009zlk.2,p.P1145S	retained_intron, protein_coding, processed_transcript	uc009zlk.2	nonsynonymous SNV	exon11	c.C3433T	p.P1145S	DHGSSGTPSKNLPKTKPPRLDPPPG	DHGSSGTPSKNLSKTKPPRLDPPPG	6.0	8.0	unscreened	-	3713_12:50186677-50186677 G>A_DHGSSGTPSKNLSKTKPPRLDPPPG
8:53025805-53025805 C>T	0.0	3713	MELANOMA	-	-	-	-	ST18	NM_014682,p.A1033T|uc003xqz.2,p.A1033T|uc003xra.2,p.A1033T|ENST00000276480,p.A1033T|uc011ldr.1,p.A998T|uc011ldq.1,p.A680T|uc011lds.1,p.A938T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lds.1	nonsynonymous SNV	exon21	c.G2812A	p.A938T	SNLERDYSPECKALLESIKQAVKGI	SNLERDYSPECKTLLESIKQAVKGI	1.0	9.0	unscreened	-	3713_8:53025805-53025805 C>T_SNLERDYSPECKTLLESIKQAVKGI
11:134252719-134252719 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1352787;OCCURENCE=1(large_intestine)	-	B3GAT1	NM_018644,p.R268Q|uc010scv.1,p.R281Q|ENST00000524765,p.R268Q|uc001qhq.3,p.R268Q|NM_054025,p.R268Q|ENST00000392580,p.R268Q|uc001qhr.3,p.R268Q|ENST00000312527,p.R268Q|ENST00000537389,p.R281Q	retained_intron, protein_coding, processed_transcript	uc010scv.1	nonsynonymous SNV	exon4	c.G842A	p.R281Q	AGFAVNLRLILQRSQAYFKLRGVKG	AGFAVNLRLILQQSQAYFKLRGVKG	1.0	9.0	unscreened	-	3713_11:134252719-134252719 C>T_AGFAVNLRLILQQSQAYFKLRGVKG
15:66727442-66727442 T>G	1.0	3713	MELANOMA	-	-	-	1	MAP2K1	uc010bhq.3,p.F53C|uc010ujp.2,p.F31C|ENST00000307102,p.F53C|NM_002755,p.F53C	retained_intron, protein_coding	uc010ujp.2	nonsynonymous SNV	exon2	c.T92G	p.F31C	ELDEQQRKRLEAFLTQKQKVGELKD	ELDEQQRKRLEACLTQKQKVGELKD	7.0	10.0	unscreened	-	3713_15:66727442-66727442 T>G_ELDEQQRKRLEACLTQKQKVGELKD
19:46443381-46443381 C>T	0.0	3713	MELANOMA	-	-	-	-	NOVA2	ENST00000263257,p.E407K|NM_002516,p.E407K|uc002pdv.2,p.E407K	protein_coding, processed_transcript	uc002pdv.2	nonsynonymous SNV	exon4	c.G1219A	p.E407K	LTAEKLAAESAKELVEIAVPENLVG	LTAEKLAAESAKKLVEIAVPENLVG	1.0	9.0	unscreened	-	3713_19:46443381-46443381 C>T_LTAEKLAAESAKKLVEIAVPENLVG
6:62687973-62687973 G>A	0.0	3713	MELANOMA	-	-	-	-	KHDRBS2	ENST00000281156,p.P161S|NM_152688,p.P161S|uc003peg.2,p.P161S	protein_coding	uc003peg.2	nonsynonymous SNV	exon4	c.C481T	p.P161S	SHALEEIKKFLVPDYNDEIRQEQLR	SHALEEIKKFLVSDYNDEIRQEQLR	1.0	9.0	unscreened	-	3713_6:62687973-62687973 G>A_SHALEEIKKFLVSDYNDEIRQEQLR
12:97051756-97051756 G>A	0.0	3713	MELANOMA	-	-	-	-	CDK17,NEDD1	uc021rcc.1,p.D158N|ENST00000524981,p.D184N	-	uc021rcc.1	nonsynonymous SNV	exon4	c.G472A	p.D158N	NGGSSLTFEHPLDDVNVVDLKWIHD	NGGSSLTFEHPLNDVNVVDLKWIHD	1.0	4.0	unscreened	-	3713_12:97051756-97051756 G>A_NGGSSLTFEHPLNDVNVVDLKWIHD
15:75182975-75182975 G>A	1.0	3713	MELANOMA	-	-	-	-	MPI	ENST00000568828,p.E42K	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000568828	nonsynonymous SNV	exon2	c.G124A	p.E42K	LLASSDPLAQIAEDKPYAEILDNRI	LLASSDPLAQIAKDKPYAEILDNRI	6.0	6.0	unscreened	-	3713_15:75182975-75182975 G>A_LLASSDPLAQIAKDKPYAEILDNRI
15:72698959-72698959 C>T	0.0	3713	MELANOMA	-	-	-	-	TMEM202	ENST00000567679,p.P33L|ENST00000568167,p.P33L	protein_coding, nonsense_mediated_decay	ENST00000568167	nonsynonymous SNV	exon2	c.C98T	p.P33L	GNRKYQRIISNIPGPSFSSLSLPYL	GNRKYQRIISNILGPSFSSLSLPYL	1.0	4.0	unscreened	-	3713_15:72698959-72698959 C>T_GNRKYQRIISNILGPSFSSLSLPYL
12:106461334-106461334 G>A	0.0	3713	MELANOMA	-	-	-	-	NUAK1	uc001tlj.1,p.S411F|NM_014840,p.S411F|ENST00000261402,p.S411F	protein_coding	uc001tlj.1	nonsynonymous SNV	exon7	c.C1232T	p.S411F	GILKKRSNSEHRSHSTGFIEGVVGP	GILKKRSNSEHRFHSTGFIEGVVGP	4.0	4.0	unscreened	-	3713_12:106461334-106461334 G>A_GILKKRSNSEHRFHSTGFIEGVVGP
1:45297411-45297411 C>T	0.0	3713	MELANOMA	-	-	-	-	PTCH2	NM_001166292,p.G195E|ENST00000447098,p.G195E|NM_003738,p.G195E|ENST00000372192,p.G195E|uc010olf.2,p.G195E|uc021omv.1,p.G195E	protein_coding	uc021omv.1	nonsynonymous SNV	exon5	c.G584A	p.G195E	CVILTPLDCFWEGAKLQGGSAYLPG	CVILTPLDCFWEEAKLQGGSAYLPG	1.0	1.0	unscreened	-	3713_1:45297411-45297411 C>T_CVILTPLDCFWEEAKLQGGSAYLPG
7:150174689-150174689 G>A	0.0	3713	MELANOMA	-	-	-	-	GIMAP8	ENST00000307271,p.G607S|NM_175571,p.G607S|uc003whj.3,p.G607S	protein_coding	uc003whj.3	nonsynonymous SNV	exon5	c.G1819A	p.G607S	GRRVCAFNNKETGQAQETQVKALLT	GRRVCAFNNKETSQAQETQVKALLT	6.0	4.0	unscreened	-	3713_7:150174689-150174689 G>A_GRRVCAFNNKETSQAQETQVKALLT
14:51345483-51345483 G>C	0.0	3713	MELANOMA	-	-	-	-	ABHD12B	ENST00000557345,p.G42A|ENST00000382029,p.G42A	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000557345	nonsynonymous SNV	exon2	c.G125C	p.G42A	VDRNLRQSPISCGFKETRVKDSSHS	VDRNLRQSPISCAFKETRVKDSSHS	1.0	10.0	unscreened	-	3713_14:51345483-51345483 G>C_VDRNLRQSPISCAFKETRVKDSSHS
20:61981282-61981282 G>A	0.0	3713	MELANOMA	-	-	-	-	CHRNA4	uc002yes.3,p.P494L|uc002yet.2,p.P318L|NM_001256573,p.P318L|ENST00000370263,p.P494L|uc010gkf.2,p.P318L|uc002yev.2,p.P318L|NM_000744,p.P494L|uc010gke.1,p.P423L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010gkf.2	nonsynonymous SNV	exon5	c.C953T	p.P318L	VRCRSRSIQYCVPRDDAAPEADGQA	VRCRSRSIQYCVLRDDAAPEADGQA	1.0	1.0	unscreened	-	3713_20:61981282-61981282 G>A_VRCRSRSIQYCVLRDDAAPEADGQA
9:139091590-139091590 C>T	0.0	3713	MELANOMA	-	-	-	-	LHX3	uc004cha.3,p.E130K|uc004cgz.3,p.E135K|NM_014564,p.E135K|ENST00000371746,p.E135K|ENST00000371748,p.E130K|NM_178138,p.E130K	protein_coding	uc004cha.3	nonsynonymous SNV	exon3	c.G388A	p.E130K	CVVCKRQLATGDEFYLMEDSRLVCK	CVVCKRQLATGDKFYLMEDSRLVCK	1.0	9.0	unscreened	-	3713_9:139091590-139091590 C>T_CVVCKRQLATGDKFYLMEDSRLVCK
19:31768294-31768294 G>A	1.0	3713	MELANOMA	-	-	ID=COSM994492,COSM994493;OCCURENCE=1(endometrium)	-	TSHZ3	NM_020856,p.S802F|ENST00000240587,p.S802F|uc002nsy.4,p.S802F	protein_coding, processed_transcript	uc002nsy.4	nonsynonymous SNV	exon2	c.C2405T	p.S802F	IDLTKGKSDKGCSLGSVLLSPTSTA	IDLTKGKSDKGCFLGSVLLSPTSTA	3.0	10.0	unscreened	-	3713_19:31768294-31768294 G>A_IDLTKGKSDKGCFLGSVLLSPTSTA
5:41067320-41067320 C>T	0.0	3713	MELANOMA	-	-	-	-	MROH2B	ENST00000399564,p.E31K|NM_173489,p.E31K|uc003jmj.4,p.E31K|uc021xxt.1,p.E31K	retained_intron, protein_coding	uc021xxt.1	nonsynonymous SNV	exon3	c.G91A	p.E31K	LGMLNKEDIVNKEDIYSHLTSVIQN	LGMLNKEDIVNKKDIYSHLTSVIQN	1.0	9.0	unscreened	-	3713_5:41067320-41067320 C>T_LGMLNKEDIVNKKDIYSHLTSVIQN
10:134218350-134218350 C>T	0.0	3713	MELANOMA	-	-	-	-	PWWP2B	uc001lll.4,p.P116S|NM_138499,p.P116S|NM_001098637,p.P116S|uc009ybe.3,p.P116S|ENST00000368609,p.P116S|ENST00000305233,p.P116S	protein_coding	uc009ybe.3	nonsynonymous SNV	exon2	c.C346T	p.P116S	PLVPPLPAGSLPPYPPYFEGAPFPH	PLVPPLPAGSLPSYPPYFEGAPFPH	2.0	1.0	unscreened	-	3713_10:134218350-134218350 C>T_PLVPPLPAGSLPSYPPYFEGAPFPH
2:228884522-228884522 C>T	0.0	3713	MELANOMA	-	-	-	-	SPHKAP	ENST00000344657,p.D350N|NM_030623,p.D350N|uc002vpq.2,p.D350N|ENST00000392056,p.D350N|NM_001142644,p.D350N|uc010zlx.1,p.D350N|uc002vpp.2,p.D350N	retained_intron, protein_coding	uc010zlx.1	nonsynonymous SNV	exon7	c.G1048A	p.D350N	LYIPKDAYFSMMDKDVPSACAVAEQ	LYIPKDAYFSMMNKDVPSACAVAEQ	1.0	10.0	unscreened	-	3713_2:228884522-228884522 C>T_LYIPKDAYFSMMNKDVPSACAVAEQ
6:150290284-150290284 C>T	0.0	3713	MELANOMA	-	-	-	-	ULBP1	NM_025218,p.S138F|ENST00000367345,p.S138F|ENST00000229708,p.S138F|uc003qnp.3,p.S138F	protein_coding	uc003qnp.3	nonsynonymous SNV	exon3	c.C413T	p.S138F	SCEHEAHGHGRGSWQFLFNGQKFLL	SCEHEAHGHGRGFWQFLFNGQKFLL	1.0	3.0	unscreened	-	3713_6:150290284-150290284 C>T_SCEHEAHGHGRGFWQFLFNGQKFLL
10:15730013-15730013 C>T	0.0	3713	MELANOMA	-	-	-	-	ITGA8	uc001ioc.1,p.G123E|NM_001291494,p.G123E|ENST00000378076,p.G123E|uc010qcb.1,p.G123E|NM_003638,p.G123E	protein_coding, processed_transcript	uc010qcb.1	nonsynonymous SNV	exon3	c.G368A	p.G123E	FDTTNNRKIRVNGTKEPIEFKSNQW	FDTTNNRKIRVNETKEPIEFKSNQW	2.0	4.0	unscreened	-	3713_10:15730013-15730013 C>T_FDTTNNRKIRVNETKEPIEFKSNQW
9:113170247-113170247 C>T	1.0	3713	MELANOMA	-	-	-	-	SVEP1	ENST00000374469,p.D2522N|uc010mtz.3,p.D2545N|NM_153366,p.D2545N|ENST00000297826,p.D471N|uc010mty.3,p.D471N|ENST00000401783,p.D2545N	protein_coding, processed_transcript	uc010mtz.3	nonsynonymous SNV	exon38	c.G7633A	p.D2545N	PSALTCLETGDWDVDAPSCNAIHCD	PSALTCLETGDWNVDAPSCNAIHCD	2.0	3.0	-	-	3713_9:113170247-113170247 C>T_PSALTCLETGDWNVDAPSCNAIHCD
17:39081649-39081649 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1710242;OCCURENCE=1(skin)	-	KRT23	NM_001282433,p.E230K|ENST00000209718,p.E367K|uc010cxf.1,p.E154K|ENST00000436344,p.E230K|NM_015515,p.E367K|uc010wfl.1,p.E230K|uc010cxg.3,p.E367K|uc002hvm.1,p.E367K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wfl.1	nonsynonymous SNV	exon6	c.G688A	p.E230K	QVLLGIKTHLEKEITTYRRLLEGES	QVLLGIKTHLEKKITTYRRLLEGES	1.0	7.0	unscreened	-	3713_17:39081649-39081649 C>T_QVLLGIKTHLEKKITTYRRLLEGES
8:144297264-144297264 A>C	0.0	3713	MELANOMA	-	-	-	-	GPIHBP1	uc003yxu.2,p.Q142H|ENST00000330824,p.Q142H|NM_178172,p.Q142H	protein_coding	uc003yxu.2	nonsynonymous SNV	exon4	c.A426C	p.Q142H	CCQSSLCNVPPWQSSRVQDPTGKGA	CCQSSLCNVPPWHSSRVQDPTGKGA	1.0	2.0	unscreened	-	3713_8:144297264-144297264 A>C_CCQSSLCNVPPWHSSRVQDPTGKGA
7:20825260-20825260 G>A	0.0	3713	MELANOMA	-	-	-	-	SP8	uc003suy.3,p.S41F|uc003suz.3,p.S59F|NM_182700,p.S59F|ENST00000361443,p.S41F|ENST00000418710,p.S59F|uc022aak.1,p.S41F|NM_198956,p.S41F	protein_coding	uc022aak.1	nonsynonymous SNV	exon1	c.C122T	p.S41F	GFHPWKRSSSSSSASCNVVGSSLSS	GFHPWKRSSSSSFASCNVVGSSLSS	1.0	1.0	unscreened	-	3713_7:20825260-20825260 G>A_GFHPWKRSSSSSFASCNVVGSSLSS
7:54617869-54617869 G>A	0.0	3713	MELANOMA	-	-	-	-	VSTM2A	ENST00000402026,p.E213K|uc022adk.1,p.E214K|ENST00000302287,p.E214K	retained_intron, protein_coding, processed_transcript	uc022adk.1	nonsynonymous SNV	exon4	c.G640A	p.E214K	AKIPKQSPQSGMETHFEPFILPLTN	AKIPKQSPQSGMKTHFEPFILPLTN	1.0	2.0	unscreened	-	3713_7:54617869-54617869 G>A_AKIPKQSPQSGMKTHFEPFILPLTN
7:20199637-20199637 G>A	0.0	3713	MELANOMA	-	-	-	-	MACC1	NM_182762,p.S116F|ENST00000332878,p.S116F|ENST00000589011,p.S116F|ENST00000400331,p.S116F|uc003sus.4,p.S116F|uc010kug.3,p.S116F	retained_intron, protein_coding, processed_transcript	uc010kug.3	nonsynonymous SNV	exon3	c.C347T	p.S116F	CREIENGNSFDSSGDELDVHQLLRQ	CREIENGNSFDSFGDELDVHQLLRQ	1.0	8.0	unscreened	-	3713_7:20199637-20199637 G>A_CREIENGNSFDSFGDELDVHQLLRQ
3:121838341-121838341 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1037078;OCCURENCE=1(endometrium)	-	CD86	uc011bjo.2,p.S235L|ENST00000393627,p.S311L|NM_001206924,p.S205L|uc021xcz.1,p.S263L|NM_176892,p.S263L|ENST00000469710,p.S235L|uc011bjp.2,p.S205L|uc003eet.3,p.S317L|ENST00000264468,p.S104L|NM_175862,p.S317L|ENST00000330540,p.S317L|NM_006889,p.S311L|uc003eeu.3,p.S311L|ENST00000493101,p.S205L|NM_001206925,p.S235L	retained_intron, protein_coding, processed_transcript	uc021xcz.1	nonsynonymous SNV	exon6	c.C788T	p.S263L	ERSDEAQRVFKSSKTSSCDKSDTCF	ERSDEAQRVFKSLKTSSCDKSDTCF	7.0	3.0	unscreened	-	3713_3:121838341-121838341 C>T_ERSDEAQRVFKSLKTSSCDKSDTCF
12:113515303-113515303 G>A	0.0	3713	MELANOMA	-	-	-	-	DTX1	uc001tuk.1,p.E112K|ENST00000257600,p.E112K|NM_004416,p.E112K	protein_coding, processed_transcript	uc001tuk.1	nonsynonymous SNV	exon2	c.G334A	p.E112K	SSAPGKGIVWEWENDGGAWTAYDMD	SSAPGKGIVWEWKNDGGAWTAYDMD	1.0	3.0	unscreened	-	3713_12:113515303-113515303 G>A_SSAPGKGIVWEWKNDGGAWTAYDMD
7:94897988-94897988 C>T	1.0	3713	MELANOMA	-	-	-	-	PPP1R9A	ENST00000340694,p.S909F|ENST00000433881,p.S909F|NM_017650,p.S909F|uc011kig.2,p.S909F|NM_001166163,p.S909F|uc003unp.3,p.S909F	protein_coding	uc011kig.2	nonsynonymous SNV	exon11	c.C2726T	p.S909F	RPSRTRLYDSVSSTDGEDSLERKNF	RPSRTRLYDSVSFTDGEDSLERKNF	3.0	4.0	unscreened	-	3713_7:94897988-94897988 C>T_RPSRTRLYDSVSFTDGEDSLERKNF
7:94897988-94897988 C>T	1.0	3713	MELANOMA	-	-	-	-	PPP1R9A	ENST00000289495,p.S909F|NM_001166161,p.S909F|uc011kif.2,p.S909F	protein_coding	uc011kif.2	nonsynonymous SNV	exon11	c.C2726T	p.S909F	RPSRTRLYDSVSSTDGEDSLERKGL	RPSRTRLYDSVSFTDGEDSLERKGL	3.0	4.0	unscreened	-	3713_7:94897988-94897988 C>T_RPSRTRLYDSVSFTDGEDSLERKGL
7:94897988-94897988 C>T	1.0	3713	MELANOMA	-	-	-	-	PPP1R9A	uc010lfj.3,p.S931F|ENST00000456331,p.S909F|NM_001166162,p.S909F|ENST00000433360,p.S931F|uc003unq.3,p.S909F|NM_001166160,p.S931F|ENST00000424654,p.S909F	protein_coding	uc010lfj.3	nonsynonymous SNV	exon13	c.C2792T	p.S931F	RPSRTRLYDSVSSTDGEDSLERKPS	RPSRTRLYDSVSFTDGEDSLERKPS	3.0	4.0	unscreened	-	3713_7:94897988-94897988 C>T_RPSRTRLYDSVSFTDGEDSLERKPS
16:71603801-71603801 G>A	0.0	3713	MELANOMA	-	-	-	-	TAT	ENST00000355962,p.P361S|NM_000353,p.P361S|uc002fap.2,p.P361S	retained_intron, protein_coding	uc002fap.2	nonsynonymous SNV	exon10	c.C1081T	p.P361S	NADLCYGALAAIPGLRPVRPSGAMY	NADLCYGALAAISGLRPVRPSGAMY	1.0	2.0	unscreened	-	3713_16:71603801-71603801 G>A_NADLCYGALAAISGLRPVRPSGAMY
6:84270587-84270587 C>T	0.0	3713	MELANOMA	-	-	-	-	SNAP91	uc011dze.2,p.G839E|uc011dzd.3,p.G715E|uc003pka.3,p.G839E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dze.2	nonsynonymous SNV	exon26	c.G2516A	p.G839E	VAGAPSVGQPGAGFGMPPAGTGMPM	VAGAPSVGQPGAEFGMPPAGTGMPM	1.0	5.0	unscreened	-	3713_6:84270587-84270587 C>T_VAGAPSVGQPGAEFGMPPAGTGMPM
1:16103708-16103708 C>T	0.0	3713	MELANOMA	-	-	-	-	FBLIM1	ENST00000332305,p.P215S|uc001axi.1,p.P215S|ENST00000400773,p.P215S|ENST00000375766,p.P312S|uc001axh.1,p.P215S|NM_001024216,p.P215S|ENST00000375771,p.P312S|uc001axd.1,p.P312S|NM_017556,p.P312S|uc001axe.1,p.P312S	protein_coding, processed_transcript	uc001axi.1	nonsynonymous SNV	exon4	c.C643T	p.P215S	APVCSICENPIIPRDGKDAFKIECM	APVCSICENPIISRDGKDAFKIECM	4.0	1.0	-	-	3713_1:16103708-16103708 C>T_APVCSICENPIISRDGKDAFKIECM
6:110714234-110714234 C>T	1.0	3713	MELANOMA	-	-	-	-	DDO	ENST00000368924,p.R285Q|uc003pud.3,p.R226Q|uc003puc.3,p.R285Q|NM_004032,p.R226Q|ENST00000368925,p.R257Q|NM_003649,p.R285Q|ENST00000368923,p.R226Q	protein_coding, nonsense_mediated_decay	uc003pud.3	nonsynonymous SNV	exon4	c.G677A	p.R226Q	SPDAENSREILSRCCALEPSLHGAC	SPDAENSREILSQCCALEPSLHGAC	2.0	4.0	unscreened	-	3713_6:110714234-110714234 C>T_SPDAENSREILSQCCALEPSLHGAC
16:68225261-68225261 C>T	1.0	3713	MELANOMA	-	-	-	-	NFATC3	uc002evk.3,p.P897S|uc002evl.3,p.P418S|uc010vkn.2,p.P418S|uc010vlb.2,p.P418S|uc010vks.2,p.P418S|uc010vla.2,p.P418S|uc002evo.2,p.P897S|uc010vkx.2,p.P418S|uc002evn.2,p.P897S|uc010vko.2,p.P418S|uc010vkw.2,p.P418S|uc010vkr.2,p.P418S|uc010vku.2,p.P418S|ENST00000349223,p.P897S|ENST00000329524,p.P897S|uc010vlc.2,p.P418S|NM_173165,p.P897S|ENST00000346183,p.P897S|uc010vkv.2,p.P418S|NM_004555,p.P897S|uc010vky.2,p.P418S|uc010vkl.2,p.P418S|uc010vkp.2,p.P418S|uc010vkm.2,p.P418S|NM_173163,p.P897S|uc002evm.2,p.P897S|uc010vkq.2,p.P418S|uc010vkt.2,p.P418S|ENST00000575270,p.P897S|uc010vkz.2,p.P418S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vlc.2	nonsynonymous SNV	exon9	c.C1252T	p.P418S	HCSNTGQRSLSSPVADQITGQPSSQ	HCSNTGQRSLSSSVADQITGQPSSQ	7.0	4.0	-	-	3713_16:68225261-68225261 C>T_HCSNTGQRSLSSSVADQITGQPSSQ
9:101980805-101980805 G>A	1.0	3713	MELANOMA	-	-	-	-	ALG2	ENST00000476832,p.P221L|NM_033087,p.P221L|uc004azg.3,p.P128L|ENST00000319033,p.P128L|uc004azf.3,p.P221L	protein_coding, nonsense_mediated_decay	uc004azg.3	nonsynonymous SNV	exon3	c.C383T	p.P128L	DSVVPEKLDDLVPKGKKFLLLSINR	DSVVPEKLDDLVLKGKKFLLLSINR	8.0	4.0	-	-	3713_9:101980805-101980805 G>A_DSVVPEKLDDLVLKGKKFLLLSINR
2:31621532-31621532 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1494918;OCCURENCE=1(kidney)	-	XDH	uc002rnv.1,p.G114R|NM_000379,p.G114R|ENST00000379416,p.G114R	protein_coding, processed_transcript	uc002rnv.1	nonsynonymous SNV	exon5	c.G340A	p.G114R	QERIAKSHGSQCGFCTPGIVMSMYT	QERIAKSHGSQCRFCTPGIVMSMYT	1.0	6.0	unscreened	-	3713_2:31621532-31621532 C>T_QERIAKSHGSQCRFCTPGIVMSMYT
4:166946521-166946521 C>T	0.0	3713	MELANOMA	-	-	-	-	TLL1	uc003irh.2,p.P366S|NM_012464,p.P366S|uc021xud.1,p.P366S|NM_001204760,p.P366S|ENST00000507499,p.P366S|ENST00000513213,p.P366S|ENST00000061240,p.P366S|uc011cjn.2,p.P366S|uc011cjo.2,p.P190S	protein_coding, nonsense_mediated_decay	uc021xud.1	nonsynonymous SNV	exon9	c.C1096T	p.P366S	QESNGNLSSPGFPNGYPSYTHCIWR	QESNGNLSSPGFSNGYPSYTHCIWR	1.0	9.0	unscreened	-	3713_4:166946521-166946521 C>T_QESNGNLSSPGFSNGYPSYTHCIWR
1:19168327-19168327 G>A	0.0	3713	MELANOMA	-	-	-	-	TAS1R2	uc001bba.1,p.S496F|ENST00000375371,p.S496F|NM_152232,p.S496F	protein_coding	uc001bba.1	nonsynonymous SNV	exon5	c.C1487T	p.S496F	HTINNTIPMSMCSKRCQSGQKKKPV	HTINNTIPMSMCFKRCQSGQKKKPV	1.0	10.0	unscreened	-	3713_1:19168327-19168327 G>A_HTINNTIPMSMCFKRCQSGQKKKPV
12:129348717-129348717 G>A	0.0	3713	MELANOMA	-	-	-	-	GLT1D1	ENST00000537468,p.D10N|uc010tbh.1,p.D10N	protein_coding, nonsense_mediated_decay	uc010tbh.1	nonsynonymous SNV	exon1	c.G28A	p.D10N	MLTARCLSDDTLAHLEAAGHVC	MLTARCLSDNTLAHLEAAGHVC	1.0	8.0	unscreened	-	3713_12:129348717-129348717 G>A_MLTARCLSDNTLAHLEAAGHVC
2:179615765-179615765 C>T	0.0	3713	MELANOMA	-	-	-	-	TTN	uc002unb.3,p.E3788K|NM_133379,p.E3788K|ENST00000360870,p.E3788K	retained_intron, protein_coding	uc002unb.3	nonsynonymous SNV	exon46	c.G11362A	p.E3788K	LSNQMDQNIESEELPTSFQTIVDEE	LSNQMDQNIESEKLPTSFQTIVDEE	1.0	3.0	unscreened	-	3713_2:179615765-179615765 C>T_LSNQMDQNIESEKLPTSFQTIVDEE
3:109050788-109050788 G>A	0.0	3713	MELANOMA	-	-	-	-	DPPA4	uc011bho.2,p.P90L|NM_018189,p.P90L|ENST00000335658,p.P90L|uc011bhp.1,p.P90L|uc003dxq.4,p.P90L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bhp.1	nonsynonymous SNV	exon3	c.C269T	p.P90L	KIPIPPLPSKLPPVNLIHRDILRAW	KIPIPPLPSKLPLVNLIHRDILRAW	1.0	3.0	unscreened	-	3713_3:109050788-109050788 G>A_KIPIPPLPSKLPLVNLIHRDILRAW
1:12941726-12941726 A>G	0.0	3713	MELANOMA	-	-	-	-	PRAMEF4	uc001aun.2,p.L275P|ENST00000235349,p.L275P|NM_001009611,p.L275P	protein_coding	uc001aun.2	nonsynonymous SNV	exon3	c.T824C	p.L275P	TTQFLKLRCLQKLYMNSVSFLEGHL	TTQFLKLRCLQKPYMNSVSFLEGHL	1.0	9.0	unscreened	-	3713_1:12941726-12941726 A>G_TTQFLKLRCLQKPYMNSVSFLEGHL
10:102049845-102049845 G>A	0.0	3713	MELANOMA	-	-	-	-	PKD2L1	uc001kqx.1,p.S726F|NM_016112,p.S726F|NM_001253837,p.S679F|ENST00000338519,p.S651F|uc009xwm.1,p.S679F|ENST00000353274,p.S726F|ENST00000318222,p.S726F	protein_coding, nonsense_mediated_decay	uc009xwm.1	nonsynonymous SNV	exon14	c.C2036T	p.S679F	VLQLETVLEGVVSQIDAVGSKLKML	VLQLETVLEGVVFQIDAVGSKLKML	1.0	5.0	unscreened	-	3713_10:102049845-102049845 G>A_VLQLETVLEGVVFQIDAVGSKLKML
6:49700978-49700978 C>T	0.0	3713	MELANOMA	-	-	-	-	CRISP3	NM_006061,p.G164R|ENST00000263045,p.G164R|ENST00000433368,p.G174R|ENST00000423399,p.G61R|ENST00000354620,p.G174R|ENST00000393666,p.G151R|ENST00000371159,p.G182R|uc021zai.1,p.G174R|uc003ozs.3,p.G164R|NM_001190986,p.G174R	protein_coding	uc021zai.1	nonsynonymous SNV	exon6	c.G520A	p.G174R	YTQVVWYSSYLVGCGNAYCPNQKVL	YTQVVWYSSYLVRCGNAYCPNQKVL	1.0	8.0	unscreened	-	3713_6:49700978-49700978 C>T_YTQVVWYSSYLVRCGNAYCPNQKVL
2:160690657-160690657 G>A	0.0	3713	MELANOMA	-	-	-	-	LY75,LY75-CD302	uc002ubb.4,p.P1247S|ENST00000505052,p.P1247S|NM_001198759,p.P1247S|ENST00000553424,p.P1247S|NM_001198760,p.P1247S|ENST00000554112,p.P1247S|NM_002349,p.P1247S|ENST00000263636,p.P1247S|uc002ubc.4,p.P1247S|ENST00000504764,p.P1247S|uc010fos.3,p.P1247S	retained_intron, protein_coding, processed_transcript	uc010fos.3	nonsynonymous SNV	exon27	c.C3739T	p.P1247S	DSVKCPSPVLNTPWIPFQNCCYNFI	DSVKCPSPVLNTSWIPFQNCCYNFI	3.0	4.0	unscreened	-	3713_2:160690657-160690657 G>A_DSVKCPSPVLNTSWIPFQNCCYNFI
22:28194532-28194532 G>A	0.0	3713	MELANOMA	-	-	-	1	MN1	ENST00000302326,p.P667L|uc003adj.3,p.P667L|NM_002430,p.P667L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003adj.3	nonsynonymous SNV	exon1	c.C2000T	p.P667L	DCGPHDPSLAPPPPPGGSGVLFRGP	DCGPHDPSLAPPLPPGGSGVLFRGP	3.0	1.0	unscreened	-	3713_22:28194532-28194532 G>A_DCGPHDPSLAPPLPPGGSGVLFRGP
2:108488776-108488776 G>A	0.0	3713	MELANOMA	-	-	-	-	RGPD4	uc010ywk.2,p.R1439K|NM_182588,p.R1439K|ENST00000354986,p.R1439K|uc002tdu.3,p.R626K|ENST00000408999,p.R1439K	protein_coding	uc010ywk.2	nonsynonymous SNV	exon20	c.G4316A	p.R1439K	WVWTACDFADGERKVEHLAVRFKLQ	WVWTACDFADGEKKVEHLAVRFKLQ	1.0	1.0	unscreened	-	3713_2:108488776-108488776 G>A_WVWTACDFADGEKKVEHLAVRFKLQ
6:123319301-123319301 G>A	0.0	3713	MELANOMA	-	-	-	-	CLVS2	ENST00000275162,p.D127N|NM_001010852,p.D127N|uc003pzi.1,p.D127N	protein_coding	uc003pzi.1	nonsynonymous SNV	exon2	c.G379A	p.D127N	GRKILVLFAANWDQSRYTLVDILRA	GRKILVLFAANWNQSRYTLVDILRA	1.0	8.0	unscreened	-	3713_6:123319301-123319301 G>A_GRKILVLFAANWNQSRYTLVDILRA
1:172437597-172437597 C>T	0.0	3713	MELANOMA	-	-	-	-	C1orf105	NM_001300760,p.H129Y|uc001gik.3,p.H139Y|ENST00000367725,p.H129Y|NM_139240,p.H139Y|ENST00000367727,p.H139Y	protein_coding, processed_transcript	uc001gik.3	nonsynonymous SNV	exon7	c.C415T	p.H139Y	EPFHDDIPTESIHYRLPILGPRTAV	EPFHDDIPTESIYYRLPILGPRTAV	1.0	3.0	unscreened	-	3713_1:172437597-172437597 C>T_EPFHDDIPTESIYYRLPILGPRTAV
20:57829536-57829536 C>T	0.0	3713	MELANOMA	-	-	-	-	ZNF831	NM_178457,p.P1591L|uc002yan.3,p.P1591L|ENST00000371030,p.P1591L	protein_coding	uc002yan.3	nonsynonymous SNV	exon5	c.C4772T	p.P1591L	SHHKEGRHKTFFPSRGQYGCGEMTV	SHHKEGRHKTFFLSRGQYGCGEMTV	3.0	5.0	unscreened	-	3713_20:57829536-57829536 C>T_SHHKEGRHKTFFLSRGQYGCGEMTV
14:51345483-51345483 G>C	0.0	3713	MELANOMA	-	-	-	-	ABHD12B	uc001wys.3,p.D85H|ENST00000337334,p.D85H|NM_001206673,p.D85H	protein_coding, processed_transcript, nonsense_mediated_decay	uc001wys.3	nonsynonymous SNV	exon3	c.G253C	p.D85H	IYFNFFKAPFLVDLKKPELKIPHTV	IYFNFFKAPFLVHLKKPELKIPHTV	1.0	10.0	unscreened	-	3713_14:51345483-51345483 G>C_IYFNFFKAPFLVHLKKPELKIPHTV
11:89914838-89914838 C>T	0.0	3713	MELANOMA	-	-	-	-	NAALAD2	ENST00000534061,p.H637Y|ENST00000321955,p.H604Y|uc009yvx.3,p.H604Y|NM_001300930,p.H604Y|NM_005467,p.H637Y|uc001pdf.4,p.H637Y	retained_intron, protein_coding, nonsense_mediated_decay	uc009yvx.3	nonsynonymous SNV	exon16	c.C1810T	p.H604Y	AVKNFSEAASDFHKRLIQVDLNNPI	AVKNFSEAASDFYKRLIQVDLNNPI	1.0	8.0	unscreened	-	3713_11:89914838-89914838 C>T_AVKNFSEAASDFYKRLIQVDLNNPI
18:21494393-21494393 G>A	1.0	3713	MELANOMA	-	-	-	-	LAMA3	uc002kus.4,p.G841D|NM_001127718,p.G785D|uc002kuq.3,p.G2450D|ENST00000269217,p.G841D|ENST00000313654,p.G2450D|NM_198129,p.G2450D|uc002kur.3,p.G2394D|NM_000227,p.G841D|NM_001127717,p.G2394D|uc002kut.4,p.G785D|ENST00000587184,p.G785D|ENST00000399516,p.G2394D	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc002kut.4	nonsynonymous SNV	exon19	c.G2354A	p.G785D	YLGNKDASRDYIGMAVVDGQLTCVY	YLGNKDASRDYIDMAVVDGQLTCVY	1.0	2.0	unscreened	-	3713_18:21494393-21494393 G>A_YLGNKDASRDYIDMAVVDGQLTCVY
1:12952806-12952806 G>A	0.0	3713	MELANOMA	-	-	-	-	PRAMEF4,PRAMEF7	uc001auo.3,p.P456S|ENST00000235347,p.P456S	protein_coding	uc001auo.3	nonsynonymous SNV	exon4	c.C1366T	p.P456S	VRQPKRIFFGPVPCPNCGSWPSEKV	VRQPKRIFFGPVSCPNCGSWPSEKV	1.0	1.0	unscreened	-	3713_1:12952806-12952806 G>A_VRQPKRIFFGPVSCPNCGSWPSEKV
2:179399601-179399601 C>T	0.0	3713	MELANOMA	-	-	-	-	TTN	uc021vsz.2,p.R25041K|uc021vsy.2,p.R31346K|ENST00000460472,p.R24849K|ENST00000342992,p.R31346K|uc021vta.2,p.R24974K|ENST00000359218,p.R24974K|NM_001256850,p.R32273K|ENST00000591111,p.R32273K|uc021vtb.2,p.R24849K|ENST00000342175,p.R25041K|NM_133437,p.R25041K|NM_133432,p.R24974K|uc031rqc.1,p.R33914K|NM_001267550,p.R33914K|uc031rqd.1,p.R32273K|NM_003319,p.R24849K|NM_133378,p.R31346K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon308	c.G96818A	p.R32273K	ERINTSAFELNEREIVSYVHQVCEA	ERINTSAFELNEKEIVSYVHQVCEA	1.0	6.0	unscreened	-	3713_2:179399601-179399601 C>T_ERINTSAFELNEKEIVSYVHQVCEA
16:28997749-28997749 C>T	1.0	3713	MELANOMA	-	-	ID=COSM174748;OCCURENCE=1(large_intestine)	-	LAT	uc010vdk.1,p.R98W	-	uc010vdk.1	nonsynonymous SNV	exon5	c.C292T	p.R98W	QPLGGSHRTPSSRRDSDGEPACEDA	QPLGGSHRTPSSWRDSDGEPACEDA	8.0	9.0	unscreened	-	3713_16:28997749-28997749 C>T_QPLGGSHRTPSSWRDSDGEPACEDA
8:69434148-69434148 C>T	0.0	3713	MELANOMA	-	-	-	-	C8orf34	uc003xyb.3,p.P183S|NM_052958,p.P294S|ENST00000518698,p.P294S|ENST00000539993,p.P208S|ENST00000521406,p.P183S|ENST00000348340,p.P208S|uc010lyy.2,p.P294S|ENST00000337103,p.P183S|uc010lyz.3,p.P294S|NM_001195639,p.P294S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lyz.3	nonsynonymous SNV	exon6	c.C880T	p.P294S	DPLAAEMLQPPIPRSKNDQWESEDS	DPLAAEMLQPPISRSKNDQWESEDS	1.0	10.0	unscreened	-	3713_8:69434148-69434148 C>T_DPLAAEMLQPPISRSKNDQWESEDS
4:38829447-38829447 C>T	1.0	3713	MELANOMA	-	-	-	-	TLR6	ENST00000381950,p.E550K|uc010ifg.2,p.E550K|ENST00000436693,p.E550K|uc003gtm.3,p.E550K|NM_006068,p.E550K	protein_coding	uc010ifg.2	nonsynonymous SNV	exon2	c.G1648A	p.E550K	REFVKNIDQVSSEVLEGWPDSYKCD	REFVKNIDQVSSKVLEGWPDSYKCD	4.0	6.0	unscreened	-	3713_4:38829447-38829447 C>T_REFVKNIDQVSSKVLEGWPDSYKCD
6:41303927-41303927 A>T	0.0	3713	MELANOMA	-	-	-	-	NCR2	uc003oqi.2,p.K52I|uc003oqh.2,p.K52I|ENST00000373086,p.K52I|NM_001199510,p.K52I|NM_004828,p.K52I|ENST00000373083,p.K52I|NM_001199509,p.K52I|ENST00000373089,p.K52I|uc003oqj.2,p.K52I	protein_coding	uc003oqj.2	nonsynonymous SNV	exon2	c.A155T	p.K52I	CQYPPTGSLYEKKGWCKEASALVCI	CQYPPTGSLYEKIGWCKEASALVCI	1.0	2.0	unscreened	-	3713_6:41303927-41303927 A>T_CQYPPTGSLYEKIGWCKEASALVCI
9:140138198-140138198 C>T	0.0	3713	MELANOMA	-	-	-	-	FAM166A	NM_001001710,p.R303Q|ENST00000344774,p.R303Q|uc004cmi.1,p.R303Q	protein_coding, nonsense_mediated_decay	uc004cmi.1	nonsynonymous SNV	exon7	c.G908A	p.R303Q	QDNYALTFGNSTRRAYWKEWAKRNH	QDNYALTFGNSTQRAYWKEWAKRNH	1.0	10.0	unscreened	-	3713_9:140138198-140138198 C>T_QDNYALTFGNSTQRAYWKEWAKRNH
18:21523870-21523870 G>A	1.0	3713	MELANOMA	-	-	-	-	LAMA3	ENST00000587184,p.G1384R|uc002kus.4,p.G1440R|ENST00000269217,p.G1440R|NM_000227,p.G1440R|NM_198129,p.G3049R|NM_001127718,p.G1384R|ENST00000313654,p.G3049R|uc002kuq.3,p.G3049R|ENST00000399516,p.G2993R|uc002kut.4,p.G1384R|uc002kur.3,p.G2993R|NM_001127717,p.G2993R	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc002kut.4	nonsynonymous SNV	exon31	c.G4150A	p.G1384R	LYLSKGRLVFALGTDGKKLRIKSKE	LYLSKGRLVFALRTDGKKLRIKSKE	1.0	9.0	unscreened	-	3713_18:21523870-21523870 G>A_LYLSKGRLVFALRTDGKKLRIKSKE
14:20345162-20345162 G>T	0.0	3713	MELANOMA	-	-	-	-	OR4K2	ENST00000298642,p.V246F|NM_001005501,p.V246F|uc001vwh.1,p.V246F	protein_coding	uc001vwh.1	nonsynonymous SNV	exon1	c.G736T	p.V246F	SKALSTCTAHFIVVFLFFGPCIFIY	SKALSTCTAHFIFVFLFFGPCIFIY	1.0	5.0	unscreened	-	3713_14:20345162-20345162 G>T_SKALSTCTAHFIFVFLFFGPCIFIY
22:50298026-50298027 AC>-	1.0	3713	MELANOMA	-	-	-	-	ALG12	NM_024105,p.V374fs|ENST00000330817,p.V374fs|uc003biy.3,p.V374fs	protein_coding, nonsense_mediated_decay	uc003biy.3	frameshift deletion	exon8	c.1120_1121del	p.V374fs	ALYVSHFNYPGGVAMQRLHQLVPPQ	ALYVSHFNYPGGRNAEAAPAGAPPDRRPSAH	5.0	2.0	unscreened	-	3713_22:50298026-50298027 AC>-_ALYVSHFNYPGGRNAEAAPAGAPPDRRPSAH
16:48239411-48239411 C>T	0.0	3713	MELANOMA	-	-	-	-	ABCC11	NM_033151,p.S573N|ENST00000394747,p.S573N|uc002efg.1,p.S573N|uc002efh.1,p.S573N|uc002eff.1,p.S573N|ENST00000353782,p.S573N|NM_032583,p.S573N|ENST00000356608,p.S573N|ENST00000394748,p.S573N|NM_145186,p.S573N|ENST00000537808,p.S573N	retained_intron, protein_coding, processed_transcript	uc002efh.1	nonsynonymous SNV	exon13	c.G1718A	p.S573N	MHLLEGSVGVQGSLAYVPQQAWIVS	MHLLEGSVGVQGNLAYVPQQAWIVS	1.0	5.0	unscreened	-	3713_16:48239411-48239411 C>T_MHLLEGSVGVQGNLAYVPQQAWIVS
16:81219170-81219170 C>A	0.0	3713	MELANOMA	-	-	-	-	PKD1L2	ENST00000337114,p.G642C|uc002fgj.3,p.G642C|NM_001076780,p.G642C|ENST00000599697,p.G642C	retained_intron, protein_coding, processed_transcript, polymorphic_pseudogene	uc002fgj.3	nonsynonymous SNV	exon11	c.G1924T	p.G642C	DSAVTLRLAVLRGQELENRAEQCLY	DSAVTLRLAVLRCQELENRAEQCLY	3.0	1.0	unscreened	-	3713_16:81219170-81219170 C>A_DSAVTLRLAVLRCQELENRAEQCLY
1:235577773-235577773 C>T	1.0	3713	MELANOMA	-	-	-	-	TBCE	uc001hwz.1,p.R71C|ENST00000543662,p.R71C|NM_001287801,p.R71C|NM_001079515,p.R71C|NM_003193,p.R71C|uc001hxa.1,p.R71C|ENST00000406207,p.R71C|uc010pxr.1,p.R71C|ENST00000366601,p.R71C	protein_coding, processed_transcript	uc010pxr.1	nonsynonymous SNV	exon4	c.C211T	p.R71C	FKCRHPTGGSFIRPNKVNFGTDFLT	FKCRHPTGGSFICPNKVNFGTDFLT	5.0	3.0	-	-	3713_1:235577773-235577773 C>T_FKCRHPTGGSFICPNKVNFGTDFLT
12:48963788-48963788 G>A	0.0	3713	MELANOMA	-	-	-	-	LALBA	uc001rrt.3,p.P6S|NM_002289,p.P6S|ENST00000549817,p.P6S|ENST00000301046,p.P6S	protein_coding	uc001rrt.3	nonsynonymous SNV	exon1	c.C16T	p.P6S	MRFFVPLFLVGILFPAIL	MRFFVSLFLVGILFPAIL	1.0	8.0	unscreened	-	3713_12:48963788-48963788 G>A_MRFFVSLFLVGILFPAIL
3:164709214-164709214 C>T	0.0	3713	MELANOMA	-	-	-	-	SI	NM_001041,p.D1679N|ENST00000264382,p.D1679N|uc003fei.3,p.D1679N	retained_intron, protein_coding, nonsense_mediated_decay	uc003fei.3	nonsynonymous SNV	exon44	c.G5035A	p.D1679N	VRGQFQTFNASYDTINLHVRGGHIL	VRGQFQTFNASYNTINLHVRGGHIL	1.0	3.0	unscreened	-	3713_3:164709214-164709214 C>T_VRGQFQTFNASYNTINLHVRGGHIL
16:71682831-71682831 G>A	1.0	3713	MELANOMA	-	-	-	-	PHLPP2	ENST00000568954,p.R1312W|NM_001289003,p.R1245W|ENST00000356272,p.R1312W|uc010cgf.3,p.R1245W|NM_015020,p.R1312W|ENST00000393524,p.R1245W|ENST00000567016,p.R1347W|uc002fax.3,p.R1312W	retained_intron, protein_coding, nonsense_mediated_decay	uc010cgf.3	nonsynonymous SNV	exon18	c.C3733T	p.R1245W	DSRLEPEPHEEDRTEPPEEFDTAL	DSRLEPEPHEEDWTEPPEEFDTAL	4.0	6.0	-	-	3713_16:71682831-71682831 G>A_DSRLEPEPHEEDWTEPPEEFDTAL
6:54804874-54804874 C>T	0.0	3713	MELANOMA	-	-	-	-	FAM83B	ENST00000306858,p.P369S|NM_001010872,p.P369S|uc003pck.4,p.P369S	protein_coding	uc003pck.4	nonsynonymous SNV	exon5	c.C1105T	p.P369S	GYKPHFVPNFNGPNAIRQFQPNQIN	GYKPHFVPNFNGSNAIRQFQPNQIN	1.0	7.0	unscreened	-	3713_6:54804874-54804874 C>T_GYKPHFVPNFNGSNAIRQFQPNQIN
10:89505657-89505657 C>T	0.0	3713	MELANOMA	-	-	-	-	PAPSS2	NM_001015880,p.P597L|ENST00000456849,p.P597L|uc001kew.3,p.P597L|ENST00000427144,p.P596L|uc001kex.3,p.P592L|ENST00000361175,p.P592L|NM_004670,p.P592L	protein_coding, processed_transcript	uc001kex.3	nonsynonymous SNV	exon12	c.C1775T	p.P592L	RMRKLAREGENPPDGFMAPKAWKVL	RMRKLAREGENPLDGFMAPKAWKVL	2.0	9.0	unscreened	-	3713_10:89505657-89505657 C>T_RMRKLAREGENPLDGFMAPKAWKVL
19:15272075-15272075 G>A	0.0	3713	MELANOMA	-	-	-	-	NOTCH3	ENST00000263388,p.P2122S|NM_000435,p.P2122S|uc002nan.3,p.P2122S	retained_intron, protein_coding, nonsense_mediated_decay	uc002nan.3	nonsynonymous SNV	exon33	c.C6364T	p.P2122S	PFGGPPASPGGFPLEGPYAAATATA	PFGGPPASPGGFSLEGPYAAATATA	4.0	7.0	unscreened	-	3713_19:15272075-15272075 G>A_PFGGPPASPGGFSLEGPYAAATATA
2:166901612-166901612 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1691332,COSM1691333;OCCURENCE=1(skin)	-	SCN1A	ENST00000423058,p.R535C|NM_001165964,p.R535C|NM_001202435,p.R535C|NM_006920,p.R535C|ENST00000303395,p.R535C|NM_001165963,p.R535C|ENST00000409050,p.R535C|uc021vsb.1,p.R535C|uc010fpk.3,p.R535C|uc002udo.4,p.R535C|ENST00000375405,p.R535C	retained_intron, protein_coding	uc021vsb.1	nonsynonymous SNV	exon10	c.C1603T	p.R535C	SESEDSIRRKGFRFSIEGNRLTYEK	SESEDSIRRKGFCFSIEGNRLTYEK	1.0	7.0	unscreened	-	3713_2:166901612-166901612 G>A_SESEDSIRRKGFCFSIEGNRLTYEK
X:71846854-71846854 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1715137;OCCURENCE=1(skin)	-	PHKA1	NM_002637,p.R587Q|ENST00000373542,p.R587Q|NM_001172436,p.R587Q|NM_001122670,p.R587Q|uc004eax.4,p.R587Q|ENST00000373545,p.R587Q|ENST00000373539,p.R587Q|uc011mqi.2,p.R587Q|ENST00000339490,p.R587Q|uc004eay.4,p.R587Q|ENST00000541944,p.R587Q	protein_coding	uc011mqi.2	nonsynonymous SNV	exon17	c.G1760A	p.R587Q	GTSLNSSILAALRKMQDGYFGGARV	GTSLNSSILAALQKMQDGYFGGARV	1.0	10.0	unscreened	-	3713_X:71846854-71846854 C>T_GTSLNSSILAALQKMQDGYFGGARV
6:55940302-55940302 C>T	0.0	3713	MELANOMA	-	-	-	-	COL21A1	uc003pcs.3,p.G629E|ENST00000244728,p.G629E|ENST00000535941,p.G629E|NM_030820,p.G629E|uc010jzz.3,p.G14E|uc011dxg.2,p.G14E|ENST00000370808,p.G29E|ENST00000370819,p.G626E|uc011dxh.3,p.G29E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxh.3	nonsynonymous SNV	exon6	c.G86A	p.G29E	GQKGEIGPPGQQGKKGAPGMPGLMG	GQKGEIGPPGQQEKKGAPGMPGLMG	1.0	2.0	unscreened	-	3713_6:55940302-55940302 C>T_GQKGEIGPPGQQEKKGAPGMPGLMG
3:57488191-57488191 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1718634,COSM1718635;OCCURENCE=2(NS)	-	DNAH12	ENST00000495027,p.P368S|ENST00000389536,p.P368S|uc003dit.2,p.P368S|ENST00000351747,p.P368S|NM_198564,p.P368S|ENST00000311202,p.P368S|uc003diu.2,p.P368S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003diu.2	nonsynonymous SNV	exon10	c.C1102T	p.P368S	RIAEALQNVQTIPSWLSGTSTPVNL	RIAEALQNVQTISSWLSGTSTPVNL	1.0	10.0	unscreened	-	3713_3:57488191-57488191 G>A_RIAEALQNVQTISSWLSGTSTPVNL
16:49672365-49672365 G>A	0.0	3713	MELANOMA	-	-	-	-	ZNF423	uc031qwd.1,p.S233F|NM_015069,p.S233F|ENST00000561648,p.S233F|NM_001271620,p.S173F|uc031qwe.1,p.S173F|ENST00000262383,p.S233F|ENST00000567169,p.S116F|ENST00000562520,p.S173F|ENST00000535559,p.S116F|uc010vgn.3,p.S116F|ENST00000562871,p.S173F|ENST00000563137,p.S173F	retained_intron, protein_coding	uc031qwe.1	nonsynonymous SNV	exon4	c.C518T	p.S173F	PFKCTVCKRGFSSTSSLQSHMQAHK	PFKCTVCKRGFSFTSSLQSHMQAHK	1.0	7.0	unscreened	-	3713_16:49672365-49672365 G>A_PFKCTVCKRGFSFTSSLQSHMQAHK
3:12856801-12856801 G>A	0.0	3713	MELANOMA	-	-	-	-	CAND2	ENST00000456430,p.E390K|NM_012298,p.E297K|uc003bxk.2,p.E390K|ENST00000295989,p.E297K|NM_001162499,p.E390K|uc003bxj.2,p.E297K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003bxk.2	nonsynonymous SNV	exon8	c.G1168A	p.E390K	APVLIRRFKEREENVKADVFTAYIV	APVLIRRFKEREKNVKADVFTAYIV	2.0	1.0	unscreened	-	3713_3:12856801-12856801 G>A_APVLIRRFKEREKNVKADVFTAYIV
1:1158641-1158641 A>C	1.0	3713	MELANOMA	-	-	-	-	SDF4	ENST00000545427,p.L187R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000545427	nonsynonymous SNV	exon4	c.T560G	p.L187R	KEVADAIRLNEELKVDEERHGPPGP	KEVADAIRLNEERKVDEERHGPPGP	10.0	4.0	unscreened	-	3713_1:1158641-1158641 A>C_KEVADAIRLNEERKVDEERHGPPGP
4:119239674-119239674 C>T	1.0	3713	MELANOMA	-	-	-	-	PRSS12	ENST00000296498,p.E337K|NM_003619,p.E337K|uc003ica.2,p.E337K	retained_intron, protein_coding, processed_transcript	uc003ica.2	nonsynonymous SNV	exon5	c.G1009A	p.E337K	GIAKAWHQAYFGEGSGPVMLDEVRC	GIAKAWHQAYFGKGSGPVMLDEVRC	3.0	9.0	-	-	3713_4:119239674-119239674 C>T_GIAKAWHQAYFGKGSGPVMLDEVRC
1:3639924-3639924 C>T	0.0	3713	MELANOMA	-	-	-	-	TP73	NM_001204185,p.S208F|uc021ofb.1,p.S208F|NM_001126241,p.S159F|NM_001204186,p.S208F|uc021ofi.1,p.S159F|uc001akp.3,p.S208F|ENST00000378280,p.S159F|uc021off.1,p.S208F|uc010nzj.2,p.S159F|NM_001204190,p.S159F|ENST00000378290,p.S137F|uc010nzk.2,p.S137F|ENST00000357733,p.S208F|ENST00000354437,p.S208F|NM_005427,p.S208F|ENST00000604074,p.S208F|uc021ofe.1,p.S208F|NM_001204187,p.S208F|uc009vlk.2,p.S159F|uc021ofc.1,p.S208F|ENST00000378288,p.S159F|ENST00000378285,p.S159F|ENST00000603362,p.S208F|NM_001204184,p.S208F|ENST00000346387,p.S208F|NM_001126240,p.S159F|uc021ofd.1,p.S208F|NM_001204192,p.S137F|ENST00000604479,p.S208F|uc001aks.3,p.S159F|NM_001204191,p.S159F|ENST00000378295,p.S208F|NM_001204188,p.S208F|uc021ofh.1,p.S159F|uc021ofg.1,p.S159F|NM_001204189,p.S159F|uc001akr.3,p.S159F|NM_001126242,p.S159F	protein_coding	uc021ofi.1	nonsynonymous SNV	exon4	c.C476T	p.S159F	NHELGRDFNEGQSAPASHLIRVEGN	NHELGRDFNEGQFAPASHLIRVEGN	1.0	7.0	unscreened	-	3713_1:3639924-3639924 C>T_NHELGRDFNEGQFAPASHLIRVEGN
X:111155641-111155641 G>A	0.0	3713	MELANOMA	-	-	-	-	TRPC5	uc004epl.1,p.R260W|NM_012471,p.R260W|uc004epm.1,p.R260W|ENST00000262839,p.R260W	protein_coding	uc004epm.1	nonsynonymous SNV	exon3	c.C778T	p.R260W	CKLFAKDLLDQARSSRELEIILNHR	CKLFAKDLLDQAWSSRELEIILNHR	1.0	10.0	unscreened	-	3713_X:111155641-111155641 G>A_CKLFAKDLLDQAWSSRELEIILNHR
17:65941890-65941890 C>T	1.0	3713	MELANOMA	-	-	-	-	BPTF	uc002jge.3,p.P2482S|NM_004459,p.P2482S|ENST00000424123,p.P2343S|uc002jgf.3,p.P2356S|uc021uca.1,p.P156S|NM_182641,p.P2356S|ENST00000544778,p.P2419S|ENST00000306378,p.P2356S|ENST00000335221,p.P2482S|uc002jgg.3,p.P156S|ENST00000321892,p.P2482S	retained_intron, protein_coding, processed_transcript	uc021uca.1	nonsynonymous SNV	exon2	c.C466T	p.P156S	QSPSQTRIRPSTPSQLSPGQQSQVQ	QSPSQTRIRPSTSSQLSPGQQSQVQ	9.0	2.0	-	-	3713_17:65941890-65941890 C>T_QSPSQTRIRPSTSSQLSPGQQSQVQ
7:135378979-135378979 C>T	1.0	3713	MELANOMA	-	-	-	-	SLC13A4	NM_012450,p.E342K|ENST00000354042,p.E342K|uc003vtb.3,p.E343K|uc003vta.3,p.E342K	retained_intron, protein_coding, processed_transcript	uc003vtb.3	nonsynonymous SNV	exon10	c.G1027A	p.E343K	WMHWLFLGCNFKETCSLSKKKKTKR	WMHWLFLGCNFKKTCSLSKKKKTKR	1.0	1.0	unscreened	-	3713_7:135378979-135378979 C>T_WMHWLFLGCNFKKTCSLSKKKKTKR
19:7755085-7755085 C>T	0.0	3713	MELANOMA	-	-	-	-	FCER2	uc021unx.1,p.G229R|uc002mhm.2,p.G230R|ENST00000597921,p.G230R|NM_001220500,p.G230R|ENST00000346664,p.G230R|ENST00000360067,p.G229R|uc002mhn.3,p.G230R|NM_002002,p.G230R|NM_001207019,p.G229R	retained_intron, protein_coding	uc021unx.1	nonsynonymous SNV	exon9	c.G685A	p.G229R	GSWIGLRNLDLKGEFIWVDGSHVDY	GSWIGLRNLDLKREFIWVDGSHVDY	1.0	10.0	unscreened	-	3713_19:7755085-7755085 C>T_GSWIGLRNLDLKREFIWVDGSHVDY
8:110455313-110455313 T>C	0.0	3713	MELANOMA	-	-	-	-	PKHD1L1	ENST00000378402,p.F1511S|NM_177531,p.F1511S|uc003yne.3,p.F1511S	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon36	c.T4532C	p.F1511S	LPAETRHIPLHLFVGRSEATYAYGG	LPAETRHIPLHLSVGRSEATYAYGG	1.0	2.0	unscreened	-	3713_8:110455313-110455313 T>C_LPAETRHIPLHLSVGRSEATYAYGG
20:1220019-1220019 C>T	0.0	3713	MELANOMA	-	-	ID=COSM230397,COSM230396;OCCURENCE=1(NS)	-	RAD21L1	NM_001136566,p.S237F|ENST00000402452,p.S237F|uc010gab.1,p.S237F|ENST00000409241,p.S237F|ENST00000381882,p.S237F	protein_coding, processed_transcript	uc010gab.1	nonsynonymous SNV	exon7	c.C710T	p.S237F	ILLEDMHLNREISLPSEPPNSLAVE	ILLEDMHLNREIFLPSEPPNSLAVE	1.0	2.0	unscreened	-	3713_20:1220019-1220019 C>T_ILLEDMHLNREIFLPSEPPNSLAVE
12:16392638-16392638 C>T	0.0	3713	MELANOMA	-	-	-	-	SLC15A5	ENST00000344941,p.G380E|uc021qvs.1,p.G380E|NM_001170798,p.G380E	protein_coding	uc021qvs.1	nonsynonymous SNV	exon5	c.G1139A	p.G380E	YFSTCLFPSKRVGSFLSTCIIAGNL	YFSTCLFPSKRVESFLSTCIIAGNL	1.0	5.0	unscreened	-	3713_12:16392638-16392638 C>T_YFSTCLFPSKRVESFLSTCIIAGNL
10:106118153-106118153 G>A	0.0	3713	MELANOMA	-	-	-	-	CFAP58	ENST00000369704,p.D22N|uc001kyh.3,p.D22N|NM_001008723,p.D22N	protein_coding	uc001kyh.3	nonsynonymous SNV	exon2	c.G64A	p.D22N	VLEESAFEEMERDFQGVLHELSGDK	VLEESAFEEMERNFQGVLHELSGDK	1.0	3.0	unscreened	-	3713_10:106118153-106118153 G>A_VLEESAFEEMERNFQGVLHELSGDK
7:116435733-116435733 G>A	1.0	3713	MELANOMA	-	-	-	1	MET	ENST00000318493,p.E1293K|ENST00000539704,p.E145K|ENST00000397752,p.E1275K|uc010lkh.3,p.E1293K|uc011knj.2,p.E845K|NM_001127500,p.E1293K|uc003vij.3,p.E1275K|NM_000245,p.E1275K	protein_coding, processed_transcript	uc011knj.2	nonsynonymous SNV	exon20	c.G2533A	p.E845K	KSDVWSFGVLLWELMTRGAPPYPDV	KSDVWSFGVLLWKLMTRGAPPYPDV	2.0	5.0	unscreened	-	3713_7:116435733-116435733 G>A_KSDVWSFGVLLWKLMTRGAPPYPDV
7:84629132-84629132 C>T	1.0	3713	MELANOMA	-	-	ID=COSM3833391;OCCURENCE=1(breast)	-	SEMA3D	ENST00000284136,p.R653Q|uc003uib.3,p.R292Q|uc003uic.3,p.R653Q|uc010led.3,p.R653Q|NM_152754,p.R653Q	retained_intron, protein_coding, processed_transcript	uc010led.3	nonsynonymous SNV	exon18	c.G1958A	p.R653Q	ERIIKTEYGLLIRSLQKKDSGMYYC	ERIIKTEYGLLIQSLQKKDSGMYYC	3.0	6.0	-	-	3713_7:84629132-84629132 C>T_ERIIKTEYGLLIQSLQKKDSGMYYC
20:52583551-52583551 G>C	0.0	3713	MELANOMA	-	-	-	-	BCAS1	uc010zzb.1,p.T363R|ENST00000371440,p.T446R|uc002xws.2,p.T415R|uc002xwt.2,p.T401R|ENST00000448484,p.T308R|NM_003657,p.T415R|ENST00000395961,p.T415R	protein_coding	uc010zzb.1	nonsynonymous SNV	exon7	c.C1088G	p.T363R	IIKSKEVESALQTVDLNEGDAAPEP	IIKSKEVESALQRVDLNEGDAAPEP	1.0	1.0	unscreened	-	3713_20:52583551-52583551 G>C_IIKSKEVESALQRVDLNEGDAAPEP
22:22989584-22989584 C>T	0.0	3713	MELANOMA	-	-	-	-	GGTLC2	uc010gts.2,p.L146F|NM_001282879,p.L146F	retained_intron, protein_coding	uc010gts.2	nonsynonymous SNV	exon3	c.C436T	p.L146F	TTATALICVTPFLPGRAHPAQPPSH	TTATALICVTPFFPGRAHPAQPPSH	1.0	1.0	unscreened	-	3713_22:22989584-22989584 C>T_TTATALICVTPFFPGRAHPAQPPSH
6:90718419-90718419 G>A	0.0	3713	MELANOMA	-	-	-	-	BACH2	ENST00000453877,p.R49W|ENST00000343122,p.R49W|ENST00000406998,p.R49W|NM_001170794,p.R49W|NM_021813,p.R49W|ENST00000257749,p.R49W|uc010kch.3,p.R49W|uc003pnw.3,p.R49W|ENST00000537989,p.R49W|uc011eab.2,p.R49W	protein_coding, processed_transcript	uc011eab.2	nonsynonymous SNV	exon6	c.C145T	p.R49W	CDVTLIVERKEFRAHRAVLAACSEY	CDVTLIVERKEFWAHRAVLAACSEY	3.0	6.0	unscreened	-	3713_6:90718419-90718419 G>A_CDVTLIVERKEFWAHRAVLAACSEY
1:155156282-155156282 G>A	1.0	3713	MELANOMA	0.0014	-	-	-	TRIM46	uc021pao.2,p.R86Q	protein_coding, processed_transcript	uc021pao.2	nonsynonymous SNV	exon1	c.G257A	p.R86Q	ISSPTPASAGTTRTAGTTAVPRMPQ	ISSPTPASAGTTQTAGTTAVPRMPQ	4.0	3.0	unscreened	-	3713_1:155156282-155156282 G>A_ISSPTPASAGTTQTAGTTAVPRMPQ
8:139163446-139163446 C>T	0.0	3713	MELANOMA	-	-	-	2	FAM135B	ENST00000395297,p.R1091K|NM_015912,p.R1091K|uc003yva.3,p.R653K|uc003yuy.3,p.R1091K|uc003yux.3,p.R992K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yva.3	nonsynonymous SNV	exon1	c.G1958A	p.R653K	THSSTLDEEVSERMFSFYQAKEKFK	THSSTLDEEVSEKMFSFYQAKEKFK	1.0	5.0	unscreened	-	3713_8:139163446-139163446 C>T_THSSTLDEEVSEKMFSFYQAKEKFK
1:161017571-161017571 C>A	0.0	3713	MELANOMA	-	-	-	-	ARHGAP30	uc001fxl.3,p.L1080F|ENST00000368016,p.L869F|NM_181720,p.L869F|NM_001025598,p.L1080F|ENST00000368015,p.L903F|NM_001287602,p.L903F|NM_001287600,p.L932F|uc009wtx.3,p.L753F|ENST00000368013,p.L1080F|uc001fxk.3,p.L869F|uc001fxm.3,p.L926F	retained_intron, protein_coding, nonsense_mediated_decay	uc009wtx.3	nonsynonymous SNV	exon10	c.G2259T	p.L753F	LPPREPQVPDPLLSSQRRSYAFETQ	LPPREPQVPDPLFSSQRRSYAFETQ	7.0	6.0	unscreened	-	3713_1:161017571-161017571 C>A_LPPREPQVPDPLFSSQRRSYAFETQ
19:15124564-15124564 G>A	0.0	3713	MELANOMA	-	-	-	-	CCDC105	uc002nae.2,p.M217I|ENST00000292574,p.M217I|NM_173482,p.M217I	protein_coding	uc002nae.2	nonsynonymous SNV	exon2	c.G651A	p.M217I	ELKSMKRKMERDMEKSEVLLKTLAS	ELKSMKRKMERDIEKSEVLLKTLAS	1.0	10.0	unscreened	-	3713_19:15124564-15124564 G>A_ELKSMKRKMERDIEKSEVLLKTLAS
1:64644503-64644503 G>A	1.0	3713	MELANOMA	-	-	-	-	ROR1	ENST00000371079,p.G927R|ENST00000545203,p.G378R|uc001dbj.3,p.G927R|NM_005012,p.G927R	protein_coding, processed_transcript	uc001dbj.3	nonsynonymous SNV	exon9	c.G2779A	p.G927R	KQASLLGDANIHGHTESMISAEL	KQASLLGDANIHRHTESMISAEL	4.0	1.0	-	-	3713_1:64644503-64644503 G>A_KQASLLGDANIHRHTESMISAEL
7:29980462-29980462 G>A	0.0	3713	MELANOMA	-	-	-	-	SCRN1	ENST00000409497,p.S192L|ENST00000421434,p.S192L|uc011jzy.2,p.S124L|ENST00000242059,p.S192L|uc011kaa.2,p.S212L|uc011jzz.2,p.S192L|NM_001145514,p.S212L|ENST00000426154,p.S192L|uc010kvp.3,p.S192L|ENST00000434476,p.S212L|ENST00000425819,p.S124L|NM_001145513,p.S192L|NM_014766,p.S192L|uc003tak.3,p.S192L|NM_001145515,p.S124L	protein_coding, processed_transcript	uc011kaa.2	nonsynonymous SNV	exon5	c.C635T	p.S212L	VTEGVRCICSQLSLTTKMDAEHPEL	VTEGVRCICSQLLLTTKMDAEHPEL	4.0	9.0	unscreened	-	3713_7:29980462-29980462 G>A_VTEGVRCICSQLLLTTKMDAEHPEL
X:152088917-152088917 G>C	0.0	3713	MELANOMA	-	-	-	-	ZNF185	ENST00000535861,p.E192D|NM_001178110,p.E192D|NM_001178108,p.E192D|NM_001178107,p.E192D|ENST00000539731,p.E192D|uc011myg.2,p.E192D|uc011myi.2,p.E192D|NM_001178106,p.E192D|ENST00000318504,p.E192D|ENST00000324823,p.E57D|uc011myj.2,p.E192D|uc010ntv.2,p.E192D|uc011myk.2,p.E192D|NM_007150,p.E192D|uc011myh.2,p.E192D|ENST00000449285,p.E192D|ENST00000370270,p.E52D|ENST00000370268,p.E192D|NM_001178109,p.E192D	protein_coding	uc011myk.2	nonsynonymous SNV	exon8	c.G576C	p.E192D	AASGVLRRTAPREHSYVLSAAKKST	AASGVLRRTAPRDHSYVLSAAKKST	3.0	9.0	unscreened	-	3713_X:152088917-152088917 G>C_AASGVLRRTAPRDHSYVLSAAKKST
17:7256563-7256563 T>C	1.0	3713	MELANOMA	-	-	-	-	KCTD11	uc002gge.4,p.V101A|NM_001002914,p.V101A|ENST00000333751,p.V101A	protein_coding, processed_transcript	uc002gge.4	nonsynonymous SNV	exon1	c.T302C	p.V101A	LLHADVDVSPRLVHFSARRGPHHYE	LLHADVDVSPRLAHFSARRGPHHYE	3.0	1.0	unscreened	-	3713_17:7256563-7256563 T>C_LLHADVDVSPRLAHFSARRGPHHYE
11:1092926-1092926 C>G	0.0	3713	MELANOMA	-	-	-	-	MUC2	ENST00000441003,p.T1582R	protein_coding	ENST00000441003	nonsynonymous SNV	exon30	c.C4745G	p.T1582R	TPTPTPTGTQTPTSTPITTTTTVTP	TPTPTPTGTQTPRSTPITTTTTVTP	1.0	1.0	unscreened	-	3713_11:1092926-1092926 C>G_TPTPTPTGTQTPRSTPITTTTTVTP
6:161127481-161127481 C>T	0.0	3713	MELANOMA	-	-	-	-	PLG	uc003qtm.4,p.A31V|NM_001168338,p.A31V|NM_000301,p.A31V|ENST00000308192,p.A31V|ENST00000366924,p.A31V|uc021zhr.1,p.A31V|ENST00000418964,p.A31V	retained_intron, protein_coding, processed_transcript	uc021zhr.1	nonsynonymous SNV	exon2	c.C92T	p.A31V	GEPLDDYVNTQGASLFSVTKKQLGA	GEPLDDYVNTQGVSLFSVTKKQLGA	1.0	9.0	unscreened	-	3713_6:161127481-161127481 C>T_GEPLDDYVNTQGVSLFSVTKKQLGA
9:136082624-136082624 C>T	0.0	3713	MELANOMA	-	-	-	-	OBP2B	ENST00000372034,p.G126E|NM_001288987,p.G126E|uc004ccz.3,p.G126E|uc011mcy.2,p.G58E|NM_014581,p.G126E	protein_coding, processed_transcript, nonsense_mediated_decay	uc011mcy.2	nonsynonymous SNV	exon3	c.G173A	p.G58E	CKDQHHGGLLHMGKLVGRNSDTNRE	CKDQHHGGLLHMEKLVGRNSDTNRE	1.0	10.0	unscreened	-	3713_9:136082624-136082624 C>T_CKDQHHGGLLHMEKLVGRNSDTNRE
11:59863103-59863103 G>A	0.0	3713	MELANOMA	-	-	-	-	MS4A2	uc001nop.3,p.E237K|NM_001256916,p.E192K|NM_000139,p.E237K|ENST00000278888,p.E237K|uc021qka.1,p.E192K	retained_intron, protein_coding	uc021qka.1	nonsynonymous SNV	exon6	c.G574A	p.E192K	YSATYSELEDPGEMSPPIDL	YSATYSELEDPGKMSPPIDL	1.0	10.0	unscreened	-	3713_11:59863103-59863103 G>A_YSATYSELEDPGKMSPPIDL
12:86374116-86374116 C>T	0.0	3713	MELANOMA	-	-	-	-	MGAT4C	uc010sum.2,p.E154K|ENST00000604798,p.E130K|uc001tai.4,p.E130K|uc001tal.4,p.E130K|ENST00000549405,p.E130K|ENST00000393205,p.E159K|uc001taj.4,p.E130K|ENST00000548651,p.E130K|uc001tak.4,p.E130K|ENST00000332156,p.E130K|ENST00000552808,p.E130K|NM_013244,p.E130K|ENST00000547225,p.E130K|uc001tah.4,p.E130K	protein_coding, processed_transcript	uc010sum.2	nonsynonymous SNV	exon6	c.G460A	p.E154K	ETIKSIFEQSSYEELKEISVVVHLA	ETIKSIFEQSSYKELKEISVVVHLA	1.0	6.0	unscreened	-	3713_12:86374116-86374116 C>T_ETIKSIFEQSSYKELKEISVVVHLA
2:33783383-33783383 G>A	1.0	3713	MELANOMA	-	-	-	-	RASGRP3	NM_001139488,p.G562E|NM_170672,p.G562E|uc010ync.2,p.G562E|ENST00000403687,p.G562E|ENST00000402538,p.G562E|ENST00000407811,p.G561E|NM_015376,p.G561E|uc002rox.3,p.G562E|uc002roy.3,p.G561E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ync.2	nonsynonymous SNV	exon16	c.G1685A	p.G562E	APSLSSGHGSLPGSPSLPPAQDEVF	APSLSSGHGSLPESPSLPPAQDEVF	4.0	8.0	unscreened	-	3713_2:33783383-33783383 G>A_APSLSSGHGSLPESPSLPPAQDEVF
4:155252767-155252767 A>G	0.0	3713	MELANOMA	-	-	-	-	DCHS2	ENST00000357232,p.V778A|uc003inw.2,p.V778A|NM_017639,p.V778A	protein_coding, processed_transcript	uc003inw.2	nonsynonymous SNV	exon10	c.T2333C	p.V778A	DFAFSSDELQAFVLKSLFCELGEGE	DFAFSSDELQAFALKSLFCELGEGE	2.0	9.0	unscreened	-	3713_4:155252767-155252767 A>G_DFAFSSDELQAFALKSLFCELGEGE
13:60686294-60686294 A>C	1.0	3713	MELANOMA	-	-	-	-	DIAPH3	NM_001258367,p.I69M|ENST00000377908,p.I69M|ENST00000400320,p.I69M|uc010aed.2,p.I69M|uc001vhw.2,p.I69M|NM_001258366,p.I69M	protein_coding, processed_transcript	uc010aed.2	nonsynonymous SNV	exon2	c.T207G	p.I69M	RPKFLDKFASIRIPGSKKERPPLPN	RPKFLDKFASIRMPGSKKERPPLPN	2.0	4.0	unscreened	-	3713_13:60686294-60686294 A>C_RPKFLDKFASIRMPGSKKERPPLPN
9:6328825-6328825 C>T	0.0	3713	MELANOMA	-	-	-	-	TPD52L3	ENST00000314556,p.S77F|NM_033516,p.S77F|ENST00000344545,p.S77F|uc003zjv.3,p.S77F|ENST00000381428,p.S77F|uc003zjx.2,p.S77F|NM_001001874,p.S77F|uc003zjw.3,p.S77F|NM_001001875,p.S77F	protein_coding	uc003zjx.2	nonsynonymous SNV	exon1	c.C230T	p.S77F	GLTALVGLRQNLSKSWLDVQVSNTY	GLTALVGLRQNLFKSWLDVQVSNTY	1.0	2.0	unscreened	-	3713_9:6328825-6328825 C>T_GLTALVGLRQNLFKSWLDVQVSNTY
4:169433274-169433274 C>T	0.0	3713	MELANOMA	-	-	-	-	PALLD	NM_016081,p.P207S|ENST00000333488,p.P84S|ENST00000261509,p.P207S|NM_001166108,p.P207S|ENST00000505667,p.P207S|uc003iru.3,p.P207S|uc011cjx.2,p.P207S|ENST00000508898,p.P186S	retained_intron, protein_coding	uc011cjx.2	nonsynonymous SNV	exon2	c.C619T	p.P207S	GESSSPDSGYLSPKNQPSALLSASA	GESSSPDSGYLSSKNQPSALLSASA	7.0	5.0	-	-	3713_4:169433274-169433274 C>T_GESSSPDSGYLSSKNQPSALLSASA
1:44133643-44133643 G>C	1.0	3713	MELANOMA	-	-	-	-	KDM4A	uc010oki.2,p.E372D|ENST00000372396,p.E372D|uc001cjx.3,p.E372D|NM_014663,p.E372D	protein_coding, processed_transcript	uc010oki.2	nonsynonymous SNV	exon9	c.G1116C	p.E372D	PPRAGNEEECPEEDMEGVEDGEEGD	PPRAGNEEECPEDDMEGVEDGEEGD	7.0	10.0	-	-	3713_1:44133643-44133643 G>C_PPRAGNEEECPEDDMEGVEDGEEGD
12:64712485-64712485 G>A	0.0	3713	MELANOMA	-	-	-	-	C12orf56	NM_001170633,p.S255F|ENST00000543942,p.S255F|uc021qzu.1,p.S255F	retained_intron, protein_coding, processed_transcript	uc021qzu.1	nonsynonymous SNV	exon4	c.C764T	p.S255F	CNGNGNEFYLGNSLLDSPSQSNSNL	CNGNGNEFYLGNFLLDSPSQSNSNL	1.0	3.0	unscreened	-	3713_12:64712485-64712485 G>A_CNGNGNEFYLGNFLLDSPSQSNSNL
16:85946763-85946763 G>A	0.0	3713	MELANOMA	-	-	-	-	IRF8	ENST00000564803,p.M158I|NM_002163,p.M158I|uc002fjh.3,p.M158I|ENST00000268638,p.M158I	retained_intron, protein_coding	uc002fjh.3	nonsynonymous SNV	exon5	c.G474A	p.M158I	LIKEPSVDDYMGMIKRSPSPPEACR	LIKEPSVDDYMGIIKRSPSPPEACR	6.0	8.0	unscreened	-	3713_16:85946763-85946763 G>A_LIKEPSVDDYMGIIKRSPSPPEACR
6:142396806-142396806 C>T	0.0	3713	MELANOMA	-	-	-	-	NMBR	ENST00000258042,p.M384I|uc003qiu.3,p.M384I|NM_002511,p.M384I	protein_coding, processed_transcript	uc003qiu.3	nonsynonymous SNV	exon3	c.G1152A	p.M384I	MVTNSVLLNGHSMKQEMAL	MVTNSVLLNGHSIKQEMAL	1.0	1.0	unscreened	-	3713_6:142396806-142396806 C>T_MVTNSVLLNGHSIKQEMAL
19:57646671-57646671 G>A	0.0	3713	MELANOMA	-	-	-	-	ZIM3	uc002qnz.1,p.S345F|ENST00000269834,p.S345F|NM_052882,p.S345F	protein_coding	uc002qnz.1	nonsynonymous SNV	exon5	c.C1034T	p.S345F	KPYKCSICEKAFSQKSNVIDHEKIH	KPYKCSICEKAFFQKSNVIDHEKIH	1.0	10.0	unscreened	-	3713_19:57646671-57646671 G>A_KPYKCSICEKAFFQKSNVIDHEKIH
20:57829535-57829535 C>T	0.0	3713	MELANOMA	-	-	-	-	ZNF831	NM_178457,p.P1591S|uc002yan.3,p.P1591S|ENST00000371030,p.P1591S	protein_coding	uc002yan.3	nonsynonymous SNV	exon5	c.C4771T	p.P1591S	SHHKEGRHKTFFPSRGQYGCGEMTV	SHHKEGRHKTFFSSRGQYGCGEMTV	3.0	5.0	unscreened	-	3713_20:57829535-57829535 C>T_SHHKEGRHKTFFSSRGQYGCGEMTV
9:139301695-139301695 G>A	1.0	3713	MELANOMA	-	-	-	-	SDCCAG3	ENST00000371725,p.P168S|NM_006643,p.P218S|uc004chi.3,p.P241S|NM_001039707,p.P241S|uc004chk.3,p.P168S|ENST00000371723,p.P191S|NM_001039708,p.P168S|uc004chj.3,p.P218S|ENST00000298537,p.P218S|ENST00000357365,p.P241S	protein_coding, processed_transcript	uc004chk.3	nonsynonymous SNV	exon3	c.C502T	p.P168S	SWALSDTDSRVSPASPAGSPSADFA	SWALSDTDSRVSSASPAGSPSADFA	9.0	9.0	-	-	3713_9:139301695-139301695 G>A_SWALSDTDSRVSSASPAGSPSADFA
9:139266482-139266482 A>C	0.0	3713	MELANOMA	-	-	-	-	CARD9	uc004chg.3,p.F17V|NM_052814,p.F17V|ENST00000489932,p.F17V|NM_052813,p.F17V|ENST00000371732,p.F17V|uc022bpp.1,p.F17V|uc010nbj.2,p.F17V|uc022bpo.1,p.F17V|ENST00000315908,p.F17V|ENST00000371734,p.F17V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022bpp.1	nonsynonymous SNV	exon2	c.T49G	p.F17V	ENDDECWSVLEGFRVTLTSVIDPSR	ENDDECWSVLEGVRVTLTSVIDPSR	3.0	6.0	unscreened	-	3713_9:139266482-139266482 A>C_ENDDECWSVLEGVRVTLTSVIDPSR
2:241979800-241979800 G>A	1.0	3713	MELANOMA	-	-	-	-	SNED1	ENST00000405547,p.E415K|ENST00000310397,p.E415K|ENST00000342631,p.E415K|uc002wah.1,p.E415K|NM_001080437,p.E415K|ENST00000401884,p.E415K	retained_intron, protein_coding, processed_transcript	uc002wah.1	nonsynonymous SNV	exon8	c.G1243A	p.E415K	VDLVGNYTCLCAEPFKGLRCETGDH	VDLVGNYTCLCAKPFKGLRCETGDH	5.0	6.0	unscreened	-	3713_2:241979800-241979800 G>A_VDLVGNYTCLCAKPFKGLRCETGDH
2:88082717-88082717 G>A	0.0	3713	MELANOMA	-	-	-	-	RGPD1,RGPD2	NM_001078170,p.R1276C|uc010fhc.2,p.R1276C|ENST00000327544,p.R533C|NM_001024457,p.R1268C|ENST00000398146,p.R1276C|uc021vkn.1,p.R1268C|uc002ssm.1,p.R533C|ENST00000420840,p.R1268C	protein_coding, processed_transcript	uc021vkn.1	nonsynonymous SNV	exon20	c.C3802T	p.R1268C	PLASSPVRKNIFRFDESTTGFNFSF	PLASSPVRKNIFCFDESTTGFNFSF	3.0	1.0	unscreened	-	3713_2:88082717-88082717 G>A_PLASSPVRKNIFCFDESTTGFNFSF
8:55541319-55541319 G>A	0.0	3713	MELANOMA	-	-	ID=COSM106448;OCCURENCE=1(skin)	-	RP1	ENST00000220676,p.G1626E|uc003xsd.1,p.G1626E|NM_006269,p.G1626E	protein_coding	uc003xsd.1	nonsynonymous SNV	exon4	c.G4877A	p.G1626E	SGELTQEKEYNIGFVKRAIEKLYGK	SGELTQEKEYNIEFVKRAIEKLYGK	1.0	4.0	unscreened	-	3713_8:55541319-55541319 G>A_SGELTQEKEYNIEFVKRAIEKLYGK
19:46998617-46998617 C>T	0.0	3713	MELANOMA	-	-	-	-	PNMAL2	NM_020709,p.E36K|ENST00000599531,p.E36K|uc002pes.2,p.E36K|ENST00000377655,p.E36K	protein_coding, processed_transcript	uc002pes.2	nonsynonymous SNV	exon1	c.G106A	p.E36K	TGIPEGLEQADVEAVLQPTLLPLGT	TGIPEGLEQADVKAVLQPTLLPLGT	1.0	9.0	unscreened	-	3713_19:46998617-46998617 C>T_TGIPEGLEQADVKAVLQPTLLPLGT
4:175898532-175898532 C>T	0.0	3713	MELANOMA	-	-	-	-	ADAM29	uc031shv.1,p.T619I|ENST00000514159,p.T619I|NM_001278126,p.T619I|uc010irr.3,p.T619I|ENST00000359240,p.T619I|NM_001130704,p.T619I|uc031shw.1,p.T619I|uc003iud.3,p.T619I|NM_014269,p.T619I|uc021xuo.1,p.T619I|NM_001278125,p.T619I|NM_001130705,p.T619I|ENST00000445694,p.T619I|ENST00000404450,p.T619I|uc031shu.1,p.T619I|NM_001130703,p.T619I|NM_001278127,p.T619I|uc003iuc.3,p.T619I|uc011cki.2,p.T619I	retained_intron, protein_coding, processed_transcript	uc031shw.1	nonsynonymous SNV	exon2	c.C1856T	p.T619I	DHICIHRHCVHITILNSNCSPAFCN	DHICIHRHCVHIIILNSNCSPAFCN	1.0	5.0	unscreened	-	3713_4:175898532-175898532 C>T_DHICIHRHCVHIIILNSNCSPAFCN
20:35060373-35060373 G>A	0.0	3713	MELANOMA	-	-	-	-	DLGAP4	uc002xff.3,p.E85K|ENST00000339266,p.E85K|ENST00000373913,p.E85K|ENST00000373907,p.E85K|uc010zvp.2,p.E85K|NM_014902,p.E85K|ENST00000401952,p.E85K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zvp.2	nonsynonymous SNV	exon2	c.G253A	p.E85K	RIHYNSHFEVPEESPFPSHAQATKI	RIHYNSHFEVPEKSPFPSHAQATKI	10.0	9.0	-	-	3713_20:35060373-35060373 G>A_RIHYNSHFEVPEKSPFPSHAQATKI
17:61958073-61958073 C>T	0.0	3713	MELANOMA	-	-	-	-	GH2	ENST00000332800,p.G172E|uc002jcl.2,p.G172E|NM_022557,p.G172E	protein_coding	uc002jcl.2	nonsynonymous SNV	exon4	c.G515A	p.G172E	PNPGAPLASRDWGEKHCCPLFSSQA	PNPGAPLASRDWEEKHCCPLFSSQA	1.0	9.0	unscreened	-	3713_17:61958073-61958073 C>T_PNPGAPLASRDWEEKHCCPLFSSQA
18:61262348-61262348 G>A	0.0	3713	MELANOMA	-	-	-	-	SERPINB13	uc010xer.2,p.G55E|NM_012397,p.G234E|ENST00000344731,p.G234E|ENST00000415733,p.G83E|uc002ljd.3,p.G98E|uc010xep.2,p.G243E|uc002ljc.3,p.G234E|uc010xeq.2,p.G55E	retained_intron, protein_coding, nonsense_mediated_decay	uc010xer.2	nonsynonymous SNV	exon5	c.G164A	p.G55E	FTFLEDLQAKILGIPYKNNDLSMFV	FTFLEDLQAKILEIPYKNNDLSMFV	1.0	9.0	unscreened	-	3713_18:61262348-61262348 G>A_FTFLEDLQAKILEIPYKNNDLSMFV
2:179440505-179440505 C>T	0.0	3713	MELANOMA	-	-	-	-	TTN	uc021vta.2,p.V14512I|uc021vsy.2,p.V20884I|ENST00000359218,p.V14512I|uc031rqd.1,p.V21811I|uc021vsz.2,p.V14579I|NM_133432,p.V14512I|ENST00000460472,p.V14387I|ENST00000342175,p.V14579I|ENST00000589042,p.V23452I|NM_133378,p.V20884I|ENST00000342992,p.V20884I|NM_133437,p.V14579I|ENST00000591111,p.V21811I|uc021vtb.2,p.V14387I|NM_003319,p.V14387I|uc031rqc.1,p.V23452I|NM_001256850,p.V21811I|NM_001267550,p.V23452I	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon276	c.G65431A	p.V21811I	LNLRPTDITKDSVTLHWDLPLIDGG	LNLRPTDITKDSITLHWDLPLIDGG	1.0	8.0	unscreened	-	3713_2:179440505-179440505 C>T_LNLRPTDITKDSITLHWDLPLIDGG
20:39991347-39991347 C>T	0.0	3713	MELANOMA	-	-	-	-	EMILIN3	NM_052846,p.E288K|uc002xjy.1,p.E288K|ENST00000332312,p.E288K	protein_coding	uc002xjy.1	nonsynonymous SNV	exon4	c.G862A	p.E288K	ALGHEAHLQRLREAPPSPLTSLALL	ALGHEAHLQRLRKAPPSPLTSLALL	1.0	1.0	unscreened	-	3713_20:39991347-39991347 C>T_ALGHEAHLQRLRKAPPSPLTSLALL
20:36975043-36975043 G>A	0.0	3713	MELANOMA	-	-	-	-	LBP	ENST00000217407,p.A42T|uc002xic.2,p.A42T|NM_004139,p.A42T	protein_coding	uc002xic.2	nonsynonymous SNV	exon1	c.G124A	p.A42T	LVARITDKGLQYAAQEGLLALQSEL	LVARITDKGLQYTAQEGLLALQSEL	1.0	6.0	unscreened	-	3713_20:36975043-36975043 G>A_LVARITDKGLQYTAQEGLLALQSEL
16:28997749-28997749 C>T	1.0	3713	MELANOMA	-	-	ID=COSM174748;OCCURENCE=1(large_intestine)	-	LAT	uc002dsb.3,p.R98W|uc010vdl.1,p.R97W|uc010vdj.2,p.R134W|NM_001014988,p.R97W|NM_001014987,p.R98W|NM_001014989,p.R134W|uc002dsc.3,p.R97W|uc002dsd.3,p.R98W|NM_014387,p.R98W	-	uc010vdl.1	nonsynonymous SNV	exon5	c.C289T	p.R97W	QPLGGSHRTPSSRRDSDGANSVASY	QPLGGSHRTPSSWRDSDGANSVASY	8.0	9.0	-	-	3713_16:28997749-28997749 C>T_QPLGGSHRTPSSWRDSDGANSVASY
10:8007211-8007211 C>T	1.0	3713	MELANOMA	-	-	-	-	TAF3	ENST00000344293,p.L580F|NM_031923,p.L580F|uc010qbd.3,p.L580F	protein_coding	uc010qbd.3	nonsynonymous SNV	exon3	c.C1738T	p.L580F	TGRETKYPWKEFLKEEEADPYKFKI	TGRETKYPWKEFFKEEEADPYKFKI	4.0	5.0	-	-	3713_10:8007211-8007211 C>T_TGRETKYPWKEFFKEEEADPYKFKI
12:71029509-71029509 C>T	1.0	3713	MELANOMA	-	-	-	1	PTPRB	ENST00000551525,p.M130I|uc001swc.4,p.M131I|ENST00000550358,p.M131I|ENST00000334414,p.M131I|uc001swd.4,p.M130I|NM_001109754,p.M131I|uc001swa.4,p.M131I|uc001swe.3,p.M131I	retained_intron, protein_coding, processed_transcript	uc001swe.3	nonsynonymous SNV	exon2	c.G393A	p.M131I	VVKKARKYLHSWMKIDVNKEGKLVN	VVKKARKYLHSWIKIDVNKEGKLVN	2.0	6.0	-	-	3713_12:71029509-71029509 C>T_VVKKARKYLHSWIKIDVNKEGKLVN
16:55601329-55601329 C>T	0.0	3713	MELANOMA	0.0018	-	-	-	CAPNS2	ENST00000457326,p.R221C|uc002eid.1,p.R221C|NM_032330,p.R221C	protein_coding	uc002eid.1	nonsynonymous SNV	exon1	c.C661T	p.R221C	FISCLVRLDAMFRAFKSLDRDRDGL	FISCLVRLDAMFCAFKSLDRDRDGL	1.0	2.0	unscreened	-	3713_16:55601329-55601329 C>T_FISCLVRLDAMFCAFKSLDRDRDGL
22:27003962-27003962 T>C	0.0	3713	MELANOMA	-	-	-	-	CRYBB1	uc003acy.1,p.N108S|ENST00000215939,p.N108S|NM_001887,p.N108S	protein_coding	uc003acy.1	nonsynonymous SNV	exon4	c.A323G	p.N108S	VSAGPWVAFEQSNFRGEMFILEKGE	VSAGPWVAFEQSSFRGEMFILEKGE	1.0	2.0	unscreened	-	3713_22:27003962-27003962 T>C_VSAGPWVAFEQSSFRGEMFILEKGE
5:158250198-158250198 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1728657;OCCURENCE=1(liver)	1	EBF1	ENST00000313708,p.S255F|uc010jip.3,p.S255F|NM_024007,p.S255F	retained_intron, protein_coding, processed_transcript	uc010jip.3	nonsynonymous SNV	exon8	c.C764T	p.S255F	RARRLDPSEGTPSYLEHATPCIKAI	RARRLDPSEGTPFYLEHATPCIKAI	2.0	4.0	unscreened	-	3713_5:158250198-158250198 G>A_RARRLDPSEGTPFYLEHATPCIKAI
15:101464887-101464887 C>T	0.0	3713	MELANOMA	0.0005	-	-	-	LRRK1	ENST00000531270,p.P17L|ENST00000532029,p.P17L|ENST00000388948,p.P17L|NM_024652,p.P17L|uc002bwq.1,p.P17L|ENST00000525284,p.P17L|ENST00000534045,p.P17L|uc002bwr.3,p.P17L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bwr.3	nonsynonymous SNV	exon2	c.C50T	p.P17L	SQRPPSMYWCVGPEESAVCPERAME	SQRPPSMYWCVGLEESAVCPERAME	3.0	8.0	unscreened	-	3713_15:101464887-101464887 C>T_SQRPPSMYWCVGLEESAVCPERAME
3:39184881-39184881 G>A	1.0	3713	MELANOMA	-	-	-	-	CSRNP1	uc003cjh.3,p.P479S|ENST00000273153,p.P479S|NM_033027,p.P479S|uc003cjg.3,p.P479S|ENST00000514182,p.P479S	protein_coding	uc003cjh.3	nonsynonymous SNV	exon5	c.C1435T	p.P479S	NGGLEGSREGSLPGTSVPPSMDAGR	NGGLEGSREGSLSGTSVPPSMDAGR	4.0	4.0	-	-	3713_3:39184881-39184881 G>A_NGGLEGSREGSLSGTSVPPSMDAGR
2:149226630-149226630 C>T	0.0	3713	MELANOMA	-	-	-	-	MBD5	uc002twm.4,p.P373L|ENST00000407073,p.P373L|NM_018328,p.P373L|ENST00000404807,p.P373L	retained_intron, protein_coding, processed_transcript	uc002twm.4	nonsynonymous SNV	exon9	c.C1118T	p.P373L	LDPIPSKPVNQNPVIINPTSFHSNV	LDPIPSKPVNQNLVIINPTSFHSNV	5.0	5.0	unscreened	-	3713_2:149226630-149226630 C>T_LDPIPSKPVNQNLVIINPTSFHSNV
11:6422860-6422860 G>A	1.0	3713	MELANOMA	0.0005	-	ID=COSM1580511;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),2(large_intestine)	-	APBB1	uc010rad.2,p.R200C|NM_001164,p.R483C|ENST00000299402,p.R481C|NM_145689,p.R481C|NM_001257321,p.R224C|ENST00000530885,p.R261C|uc001mdd.4,p.R261C|NM_001257319,p.R263C|ENST00000533407,p.R222C|NM_001257325,p.R248C|uc031pyu.1,p.R481C|NM_001257323,p.R261C|ENST00000311051,p.R481C|NM_001257326,p.R224C|uc001mdc.1,p.R481C|NM_001257320,p.R224C|ENST00000389906,p.R483C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pyu.1	nonsynonymous SNV	exon9	c.C1441T	p.R481C	DKLTQMLKCHVFRCEAPAKNIATSL	DKLTQMLKCHVFCCEAPAKNIATSL	4.0	3.0	-	-	3713_11:6422860-6422860 G>A_DKLTQMLKCHVFCCEAPAKNIATSL
12:130647497-130647497 C>T	0.0	3713	MELANOMA	-	-	-	-	FZD10	uc001uii.3,p.P4S|NM_007197,p.P4S|ENST00000229030,p.P4S	protein_coding	uc001uii.3	nonsynonymous SNV	exon1	c.C10T	p.P4S	MQRPGPRLWLVLQVMG	MQRSGPRLWLVLQVMG	1.0	5.0	unscreened	-	3713_12:130647497-130647497 C>T_MQRSGPRLWLVLQVMG
5:41018451-41018451 C>T	0.0	3713	MELANOMA	-	-	-	-	MROH2B	NM_173489,p.D919N|ENST00000399564,p.D919N|ENST00000506092,p.D474N|uc003jmi.4,p.D474N|uc003jmj.4,p.D919N	retained_intron, protein_coding	uc003jmj.4	nonsynonymous SNV	exon27	c.G2755A	p.D919N	RAFQITAKVLTNDIEAPENFKIGSL	RAFQITAKVLTNNIEAPENFKIGSL	1.0	10.0	unscreened	-	3713_5:41018451-41018451 C>T_RAFQITAKVLTNNIEAPENFKIGSL
16:31372492-31372492 G>A	0.0	3713	MELANOMA	-	-	-	-	ITGAX	uc002ebt.3,p.D324N|NM_000887,p.D324N|NM_001286375,p.D324N|ENST00000268296,p.D324N|ENST00000562522,p.D324N|uc002ebu.1,p.D324N	retained_intron, protein_coding, processed_transcript	uc002ebu.1	nonsynonymous SNV	exon9	c.G970A	p.D324N	HIFKVEDFDALKDIQNQLKEKIFAI	HIFKVEDFDALKNIQNQLKEKIFAI	8.0	3.0	unscreened	-	3713_16:31372492-31372492 G>A_HIFKVEDFDALKNIQNQLKEKIFAI
5:178459877-178459877 C>T	1.0	3713	MELANOMA	-	-	-	-	ZNF879	uc003mjt.4,p.H310Y|ENST00000444149,p.H310Y|NM_001136116,p.H310Y	protein_coding	uc003mjt.4	nonsynonymous SNV	exon5	c.C928T	p.H310Y	KGSSSLNNHQRIHTGEKPYKCNECG	KGSSSLNNHQRIYTGEKPYKCNECG	3.0	1.0	unscreened	-	3713_5:178459877-178459877 C>T_KGSSSLNNHQRIYTGEKPYKCNECG
1:57161811-57161811 G>A	0.0	3713	MELANOMA	-	-	ID=COSM3865862,COSM3865863;OCCURENCE=1(lung)	-	PRKAA2	NM_006252,p.R256Q|ENST00000371244,p.R256Q|uc031pms.1,p.R143Q|uc031pmr.1,p.R143Q|uc001cyk.4,p.R256Q	protein_coding	uc031pms.1	nonsynonymous SNV	exon4	c.G428A	p.R143Q	LLMHMLQVDPLKRATIKDIREHEWF	LLMHMLQVDPLKQATIKDIREHEWF	1.0	10.0	unscreened	-	3713_1:57161811-57161811 G>A_LLMHMLQVDPLKQATIKDIREHEWF
12:11286746-11286746 A>G	0.0	3713	MELANOMA	-	-	-	-	TAS2R30	uc009zhs.1,p.I33T|ENST00000539585,p.I33T|NM_001097643,p.I33T	protein_coding	uc009zhs.1	nonsynonymous SNV	exon1	c.T98C	p.I33T	NFANGFIALVNSIEWVKRQKISFVD	NFANGFIALVNSTEWVKRQKISFVD	1.0	1.0	unscreened	-	3713_12:11286746-11286746 A>G_NFANGFIALVNSTEWVKRQKISFVD
X:15580051-15580051 C>T	0.0	3713	MELANOMA	-	-	-	-	ACE2	uc004cxa.1,p.D799N|ENST00000427411,p.D799N|ENST00000252519,p.D799N|uc004cxb.2,p.D799N|NM_021804,p.D799N	protein_coding, processed_transcript	uc004cxb.2	nonsynonymous SNV	exon19	c.G2395A	p.D799N	SKGENNPGFQNTDDVQTSF	SKGENNPGFQNTNDVQTSF	1.0	10.0	unscreened	-	3713_X:15580051-15580051 C>T_SKGENNPGFQNTNDVQTSF
2:100919418-100919418 G>A	0.0	3713	MELANOMA	-	-	-	-	LONRF2	uc002tal.4,p.P296S|ENST00000409647,p.P53S|ENST00000393437,p.P296S|NM_198461,p.P296S	protein_coding	uc002tal.4	nonsynonymous SNV	exon3	c.C886T	p.P296S	VLKEFLYCLALNPECNSVKKEAQKV	VLKEFLYCLALNSECNSVKKEAQKV	1.0	3.0	unscreened	-	3713_2:100919418-100919418 G>A_VLKEFLYCLALNSECNSVKKEAQKV
9:79320418-79320418 C>T	0.0	3713	MELANOMA	-	-	-	-	PRUNE2	ENST00000428286,p.E1899K|uc022bih.1,p.E2080K|NM_015225,p.E2258K|ENST00000376718,p.E2258K|uc010mpk.3,p.E2258K	protein_coding, processed_transcript	uc022bih.1	nonsynonymous SNV	exon7	c.G6238A	p.E2080K	GDGSWISDSFSPESQPGARALFDGD	GDGSWISDSFSPKSQPGARALFDGD	2.0	8.0	-	-	3713_9:79320418-79320418 C>T_GDGSWISDSFSPKSQPGARALFDGD
4:175414342-175414342 C>T	0.0	3713	MELANOMA	-	-	-	-	HPGD	ENST00000422112,p.D140N|ENST00000510901,p.D87N|uc011ckg.2,p.D140N|NM_001256307,p.D87N|ENST00000296522,p.D208N|ENST00000506910,p.D87N|uc011ckh.1,p.D87N|ENST00000541923,p.D87N|NM_001256306,p.D140N|NM_000860,p.D208N|uc011ckf.2,p.D87N|uc003itu.3,p.D208N|NM_001256301,p.D87N	retained_intron, protein_coding, nonsense_mediated_decay	uc011ckh.1	nonsynonymous SNV	exon6	c.G259A	p.D87N	KEENMGQYIEYKDHIKDMIKYYGIL	KEENMGQYIEYKNHIKDMIKYYGIL	1.0	10.0	unscreened	-	3713_4:175414342-175414342 C>T_KEENMGQYIEYKNHIKDMIKYYGIL
10:49414943-49414943 C>T	0.0	3713	MELANOMA	-	-	-	-	FRMPD2	NM_001018071,p.V549I|uc001jgi.3,p.V549I|uc001jgj.3,p.V518I|ENST00000305531,p.V524I|uc001jgh.3,p.V517I|ENST00000374201,p.V549I|ENST00000407470,p.V517I	retained_intron, protein_coding, processed_transcript	uc001jgj.3	nonsynonymous SNV	exon13	c.G1552A	p.V518I	RVTQQLPEYGVLVHQVFSEKRRPEE	RVTQQLPEYGVLIHQVFSEKRRPEE	1.0	6.0	unscreened	-	3713_10:49414943-49414943 C>T_RVTQQLPEYGVLIHQVFSEKRRPEE
2:179449180-179449180 C>T	0.0	3713	MELANOMA	-	-	-	-	TTN	uc031rqd.1,p.E20059K|NM_133378,p.E19132K|NM_003319,p.E12635K|ENST00000591111,p.E20059K|uc021vsz.2,p.E12827K|NM_001267550,p.E21700K|ENST00000589042,p.E21700K|uc021vsy.2,p.E19132K|NM_001256850,p.E20059K|ENST00000460472,p.E12635K|ENST00000342992,p.E19132K|ENST00000342175,p.E12827K|NM_133432,p.E12760K|uc021vta.2,p.E12760K|uc031rqc.1,p.E21700K|ENST00000359218,p.E12760K|NM_133437,p.E12827K|uc021vtb.2,p.E12635K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon261	c.G60175A	p.E20059K	GSPIIGYLIERKERNSLLWVKANDT	GSPIIGYLIERKKRNSLLWVKANDT	1.0	10.0	unscreened	-	3713_2:179449180-179449180 C>T_GSPIIGYLIERKKRNSLLWVKANDT
7:123109360-123109360 C>T	0.0	3713	MELANOMA	-	-	-	-	IQUB	ENST00000466202,p.E497K|ENST00000434450,p.E497K|ENST00000484508,p.E497K|uc003vkn.3,p.E497K|ENST00000324698,p.E497K|NM_001282855,p.E497K|uc003vkp.1,p.E497K|uc003vko.3,p.E497K|NM_178827,p.E497K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vkp.1	nonsynonymous SNV	exon9	c.G1489A	p.E497K	IEMDTQFTIRARELQNIYKCIMLKN	IEMDTQFTIRARKLQNIYKCIMLKN	1.0	1.0	unscreened	-	3713_7:123109360-123109360 C>T_IEMDTQFTIRARKLQNIYKCIMLKN
8:134125688-134125688 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1455005;OCCURENCE=1(large_intestine)	-	TG	uc003ytw.3,p.R2532Q|ENST00000220616,p.R2532Q|ENST00000377869,p.R2475Q|ENST00000542445,p.R902Q|uc010mdw.3,p.R1291Q|uc011ljc.2,p.R665Q|ENST00000519543,p.R665Q|NM_003235,p.R2532Q|uc011ljb.2,p.R901Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ljc.2	nonsynonymous SNV	exon15	c.G1994A	p.R665Q	AKAVKQFEESRGRTSSKTAFYQALQ	AKAVKQFEESRGQTSSKTAFYQALQ	1.0	2.0	unscreened	-	3713_8:134125688-134125688 G>A_AKAVKQFEESRGQTSSKTAFYQALQ
16:28506633-28506633 G>A	1.0	3713	MELANOMA	-	-	-	-	APOBR	ENST00000564831,p.E91K|NM_018690,p.E91K|ENST00000431282,p.E91K|ENST00000328423,p.E91K|uc002dqb.2,p.E91K	protein_coding	uc002dqb.2	nonsynonymous SNV	exon2	c.G271A	p.E91K	GRLRGPGDDRRHEVGSSAVEQTWGW	GRLRGPGDDRRHKVGSSAVEQTWGW	4.0	1.0	unscreened	-	3713_16:28506633-28506633 G>A_GRLRGPGDDRRHKVGSSAVEQTWGW
1:11596736-11596736 C>T	0.0	3713	MELANOMA	-	-	-	-	PTCHD2	ENST00000294484,p.S1391F|NM_020780,p.S1391F|uc001ash.4,p.S1391F|ENST00000389575,p.S1391F	protein_coding, processed_transcript	uc001ash.4	nonsynonymous SNV	exon21	c.C4172T	p.S1391F	QSGYKIPLPAGASL	QSGYKIPLPAGAFL	1.0	5.0	unscreened	-	3713_1:11596736-11596736 C>T_QSGYKIPLPAGAFL
1:85733408-85733408 G>A	0.0	3713	MELANOMA	-	-	-	1	BCL10	uc021opd.1,p.P202S|ENST00000370580,p.P202S|NM_003921,p.P202S	protein_coding	uc021opd.1	nonsynonymous SNV	exon3	c.C604T	p.P202S	TTLPRPGDPGAPPLPPDLQLEEEGT	TTLPRPGDPGAPSLPPDLQLEEEGT	5.0	1.0	unscreened	-	3713_1:85733408-85733408 G>A_TTLPRPGDPGAPSLPPDLQLEEEGT
4:110223004-110223004 C>T	0.0	3713	MELANOMA	-	-	-	-	COL25A1	ENST00000494183,p.D58N|uc003hzg.4,p.D58N|uc003hze.2,p.D58N|ENST00000399127,p.D58N|uc021xqo.1,p.D58N|NM_198721,p.D58N|ENST00000505591,p.D58N|ENST00000399132,p.D58N|NM_032518,p.D58N|uc021xqp.2,p.D58N|uc003hzf.4,p.D58N|ENST00000399126,p.D58N|NM_001256074,p.D58N|uc003hzh.2,p.D58N	retained_intron, protein_coding, nonsense_mediated_decay	uc021xqp.2	nonsynonymous SNV	exon1	c.G172A	p.D58N	VVSCLYLGVKTNDLQARIAALESAK	VVSCLYLGVKTNNLQARIAALESAK	1.0	6.0	unscreened	-	3713_4:110223004-110223004 C>T_VVSCLYLGVKTNNLQARIAALESAK
16:2868815-2868815 G>A	0.0	3713	MELANOMA	-	-	-	-	PRSS21	uc002crr.4,p.G132E|NM_144956,p.G130E|uc002crs.4,p.G130E|uc002crt.4,p.G132E|NM_006799,p.G132E|NM_001270452,p.G130E|ENST00000455114,p.G130E|NM_144957,p.G132E|ENST00000005995,p.G132E|ENST00000450020,p.G132E|uc031qus.1,p.G130E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qus.1	nonsynonymous SNV	exon4	c.G389A	p.G130E	FVSNIYLSPRYLGNSPYDIALVKLS	FVSNIYLSPRYLENSPYDIALVKLS	1.0	3.0	unscreened	-	3713_16:2868815-2868815 G>A_FVSNIYLSPRYLENSPYDIALVKLS
11:7982863-7982863 C>T	0.0	3713	MELANOMA	-	-	-	-	NLRP10	NM_176821,p.R99K|ENST00000328600,p.R99K|uc001mfv.1,p.R99K	protein_coding	uc001mfv.1	nonsynonymous SNV	exon2	c.G296A	p.R99K	VDQLSHICLHDYREVYREHVRCLEE	VDQLSHICLHDYKEVYREHVRCLEE	1.0	3.0	unscreened	-	3713_11:7982863-7982863 C>T_VDQLSHICLHDYKEVYREHVRCLEE
1:158651403-158651403 C>T	0.0	3713	MELANOMA	-	-	-	-	SPTA1	ENST00000368148,p.E149K|uc001fst.1,p.E149K|NM_003126,p.E149K|ENST00000368147,p.E149K	protein_coding, processed_transcript	uc001fst.1	nonsynonymous SNV	exon4	c.G445A	p.E149K	RHLWDLLLELTLEKGDQLLRALKFQ	RHLWDLLLELTLKKGDQLLRALKFQ	6.0	1.0	unscreened	-	3713_1:158651403-158651403 C>T_RHLWDLLLELTLKKGDQLLRALKFQ
5:151179537-151179537 C>T	1.0	3713	MELANOMA	-	-	-	-	G3BP1	uc003lun.3,p.P311S|ENST00000356245,p.P311S|uc010jhz.3,p.P129S|ENST00000543466,p.P129S|ENST00000394123,p.P311S|uc003lum.3,p.P311S|NM_005754,p.P311S|uc011dcu.2,p.P129S|NM_198395,p.P311S	retained_intron, protein_coding, nonsense_mediated_decay	uc011dcu.2	nonsynonymous SNV	exon9	c.C385T	p.P129S	RDQRVREQRINIPPQRGPRPIREAG	RDQRVREQRINISPQRGPRPIREAG	9.0	7.0	-	-	3713_5:151179537-151179537 C>T_RDQRVREQRINISPQRGPRPIREAG
14:39716400-39716400 C>T	0.0	3713	MELANOMA	-	-	ID=COSM230285;OCCURENCE=1(skin),1(prostate),1(NS)	-	MIA2	NM_054024,p.R208C|uc001wux.3,p.R208C|ENST00000556784,p.R207C|ENST00000280082,p.R208C|ENST00000553728,p.R208C|uc010amy.2,p.R139C	protein_coding	uc010amy.2	nonsynonymous SNV	exon4	c.C415T	p.R139C	WEEVVVESMEQDRIPEVHVPPSSAV	WEEVVVESMEQDCIPEVHVPPSSAV	1.0	2.0	unscreened	-	3713_14:39716400-39716400 C>T_WEEVVVESMEQDCIPEVHVPPSSAV
19:50755925-50755925 G>A	0.0	3713	MELANOMA	-	-	-	-	MYH14	ENST00000601313,p.M620I|uc002prq.1,p.M620I|ENST00000596571,p.M612I|ENST00000440075,p.M620I|NM_001077186,p.M620I|ENST00000376970,p.M612I|ENST00000262269,p.M620I|ENST00000425460,p.M620I|NM_024729,p.M612I|ENST00000599920,p.M620I|ENST00000598205,p.M620I|uc010enu.1,p.M620I|NM_001145809,p.M620I|uc002prr.1,p.M612I	retained_intron, protein_coding	uc010enu.1	nonsynonymous SNV	exon16	c.G1860A	p.M620I	AGKVDYKANEWLMKNMDPLNDNVAA	AGKVDYKANEWLIKNMDPLNDNVAA	1.0	9.0	unscreened	-	3713_19:50755925-50755925 G>A_AGKVDYKANEWLIKNMDPLNDNVAA
X:54978349-54978349 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1123567;OCCURENCE=1(endometrium)	-	PFKFB1	uc031tjq.1,p.R52C|NM_002625,p.R279C|NM_001271804,p.R257C|uc011mol.2,p.R214C|ENST00000375006,p.R279C|NM_001271805,p.R214C|ENST00000545676,p.R214C|uc004dty.2,p.R279C|uc031tjp.1,p.R257C	protein_coding	uc031tjq.1	nonsynonymous SNV	exon7	c.C154T	p.R52C	RGRIGGDSGLSVRGKQYAYALANFI	RGRIGGDSGLSVCGKQYAYALANFI	1.0	7.0	unscreened	-	3713_X:54978349-54978349 G>A_RGRIGGDSGLSVCGKQYAYALANFI
2:45171801-45171801 G>A	0.0	3713	MELANOMA	-	-	-	-	SIX3	NM_005413,p.A301T|ENST00000260653,p.A301T|uc002run.2,p.A301T	protein_coding	uc002run.2	nonsynonymous SNV	exon2	c.G901A	p.A301T	PTHGSAESPSTAASPTTSVSSLTER	PTHGSAESPSTATSPTTSVSSLTER	1.0	8.0	unscreened	-	3713_2:45171801-45171801 G>A_PTHGSAESPSTATSPTTSVSSLTER
1:228402583-228402583 C>T	0.0	3713	MELANOMA	-	-	-	-	OBSCN	ENST00000570156,p.H538Y|uc009xez.2,p.H538Y|NM_001098623,p.H538Y|NM_052843,p.H538Y|NM_001271223,p.H538Y|uc001hsq.2,p.H538Y|ENST00000422127,p.H538Y|ENST00000284548,p.H538Y|uc001hsn.4,p.H538Y	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon5	c.C1612T	p.H538Y	ESSVILSWSPPPHGERPVTIDGYLV	ESSVILSWSPPPYGERPVTIDGYLV	5.0	4.0	unscreened	-	3713_1:228402583-228402583 C>T_ESSVILSWSPPPYGERPVTIDGYLV
11:114576508-114576508 G>A	0.0	3713	MELANOMA	-	-	-	-	NXPE2	NM_182495,p.E312K|uc009yyy.2,p.E312K|ENST00000389586,p.E312K	protein_coding, processed_transcript	uc009yyy.2	nonsynonymous SNV	exon5	c.G934A	p.E312K	FTPIEVIPCNKSENIKKNCQIGMKT	FTPIEVIPCNKSKNIKKNCQIGMKT	1.0	10.0	unscreened	-	3713_11:114576508-114576508 G>A_FTPIEVIPCNKSKNIKKNCQIGMKT
11:57958119-57958119 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1354878;OCCURENCE=1(large_intestine)	-	OR9Q2	NM_001005283,p.R53C|uc010rka.2,p.R53C|ENST00000311591,p.R53C	protein_coding	uc010rka.2	nonsynonymous SNV	exon1	c.C157T	p.R53C	GNTGMILLIRGDRRLHTPMYFFLSH	GNTGMILLIRGDCRLHTPMYFFLSH	1.0	8.0	unscreened	-	3713_11:57958119-57958119 C>T_GNTGMILLIRGDCRLHTPMYFFLSH
7:8268297-8268297 G>A	0.0	3713	MELANOMA	-	-	-	-	ICA1	uc010ktr.3,p.H64Y|ENST00000430867,p.H63Y|ENST00000402384,p.H64Y|uc003srs.2,p.H64Y|ENST00000406470,p.H64Y|uc003srq.4,p.H64Y|ENST00000422063,p.H64Y|ENST00000339809,p.H64Y|ENST00000265577,p.H63Y|uc003srr.4,p.H63Y|ENST00000317367,p.H52Y|ENST00000407906,p.H64Y|ENST00000457755,p.H64Y|NM_001136020,p.H64Y|ENST00000455539,p.H64Y|uc003sro.5,p.H64Y|ENST00000396675,p.H64Y|NM_001276478,p.H63Y|NM_004968,p.H64Y|NM_022307,p.H64Y|ENST00000401396,p.H52Y|uc003srm.3,p.H64Y|ENST00000447326,p.H64Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ktr.3	nonsynonymous SNV	exon3	c.C190T	p.H64Y	SDADLDAKLELFHSIQRTCLDLSKA	SDADLDAKLELFYSIQRTCLDLSKA	2.0	2.0	unscreened	-	3713_7:8268297-8268297 G>A_SDADLDAKLELFYSIQRTCLDLSKA
16:57761244-57761244 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1709227;OCCURENCE=1(skin)	-	DRC7	uc002emi.3,p.E707K|NM_032269,p.E707K|NM_001289162,p.E707K|NM_001289163,p.E642K|ENST00000336825,p.E642K|ENST00000394337,p.E707K|ENST00000360716,p.E707K|uc002emk.3,p.E642K|uc002emj.3,p.E707K	retained_intron, protein_coding, nonsense_mediated_decay	uc002emk.3	nonsynonymous SNV	exon14	c.G1924A	p.E642K	EVLEILKLREEEEAAHTLTISIYDT	EVLEILKLREEEKAAHTLTISIYDT	1.0	9.0	unscreened	-	3713_16:57761244-57761244 G>A_EVLEILKLREEEKAAHTLTISIYDT
4:36212159-36212159 T>A	0.0	3713	MELANOMA	-	-	-	-	ARAP2	NM_015230,p.N447I|uc003gsq.2,p.N447I|uc003gsr.1,p.N447I|ENST00000303965,p.N447I	retained_intron, protein_coding, processed_transcript	uc003gsr.1	nonsynonymous SNV	exon6	c.A1340T	p.N447I	SRTQKALILDSVNRHSYPLSSTSGN	SRTQKALILDSVIRHSYPLSSTSGN	4.0	3.0	unscreened	-	3713_4:36212159-36212159 T>A_SRTQKALILDSVIRHSYPLSSTSGN
6:152823854-152823854 C>T	0.0	3713	MELANOMA	-	-	-	-	SYNE1	ENST00000413186,p.E268K|ENST00000448038,p.E275K|ENST00000466159,p.E268K|ENST00000367255,p.E268K|uc010kjb.1,p.E268K|NM_033071,p.E275K|NM_182961,p.E268K|uc003qpa.1,p.E268K|uc003qot.4,p.E275K|ENST00000341594,p.E268K|ENST00000265368,p.E268K|ENST00000537750,p.E268K|ENST00000423061,p.E275K|uc031sql.1,p.E275K|ENST00000367248,p.E275K|uc003qou.4,p.E268K|ENST00000367253,p.E268K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031sql.1	nonsynonymous SNV	exon11	c.G823A	p.E275K	LDPEDVDVDKPDEKSIMTYVAQFLK	LDPEDVDVDKPDKKSIMTYVAQFLK	7.0	2.0	unscreened	-	3713_6:152823854-152823854 C>T_LDPEDVDVDKPDKKSIMTYVAQFLK
15:40588817-40588817 C>T	0.0	3713	MELANOMA	-	-	-	-	PLCB2	ENST00000260402,p.G502E|NM_004573,p.G502E|ENST00000558588,p.G502E|NM_001284298,p.G502E|uc001zld.3,p.G502E|uc010ucm.2,p.G502E|ENST00000456256,p.G502E	retained_intron, protein_coding, nonsense_mediated_decay	uc010ucm.2	nonsynonymous SNV	exon15	c.G1505A	p.G502E	PAGEGTVWAGEEGTELEEEEVEEEE	PAGEGTVWAGEEETELEEEEVEEEE	8.0	2.0	unscreened	-	3713_15:40588817-40588817 C>T_PAGEGTVWAGEEETELEEEEVEEEE
X:140995487-140995487 C>T	1.0	3713	MELANOMA	-	-	-	-	MAGEC1	uc004fbt.3,p.P766L|uc022cfi.1,p.P425L|NM_005462,p.P766L|ENST00000285879,p.P766L	protein_coding	uc022cfi.1	nonsynonymous SNV	exon1	c.C1274T	p.P425L	SLPQSFPESPQSPPEGPAQSPLQRP	SLPQSFPESPQSLPEGPAQSPLQRP	1.0	5.0	unscreened	-	3713_X:140995487-140995487 C>T_SLPQSFPESPQSLPEGPAQSPLQRP
X:140335748-140335748 C>T	0.0	3713	MELANOMA	-	-	-	-	LDOC1,SPANXA2-OT1	uc004fbk.3,p.E66K|ENST00000358993,p.E66K	protein_coding	uc004fbk.3	nonsynonymous SNV	exon2	c.G196A	p.E66K	RYRRNVKRTSPEELLNDHARENRIN	RYRRNVKRTSPEKLLNDHARENRIN	1.0	10.0	unscreened	-	3713_X:140335748-140335748 C>T_RYRRNVKRTSPEKLLNDHARENRIN
13:109672173-109672173 G>A	0.0	3713	MELANOMA	-	-	-	-	MYO16	NM_015011,p.V882M|uc010agk.2,p.V904M|uc001vqu.1,p.V682M|NM_001198950,p.V904M|ENST00000251041,p.V882M|uc001vqt.1,p.V882M|ENST00000357550,p.V882M|ENST00000356711,p.V882M|uc010tjh.1,p.V394M|ENST00000457511,p.V394M	protein_coding, processed_transcript	uc010tjh.1	nonsynonymous SNV	exon11	c.G1180A	p.V394M	LQSLLESSNTNAVYSPMKDGNGNVA	LQSLLESSNTNAMYSPMKDGNGNVA	1.0	7.0	unscreened	-	3713_13:109672173-109672173 G>A_LQSLLESSNTNAMYSPMKDGNGNVA
15:40588817-40588817 C>T	0.0	3713	MELANOMA	-	-	-	-	PLCB2	ENST00000557821,p.G498E|NM_001284297,p.G498E|uc010bbo.3,p.G498E	retained_intron, protein_coding, nonsense_mediated_decay	uc010bbo.3	nonsynonymous SNV	exon15	c.G1493A	p.G498E	PPSAPAVWAGEEGTELEEEEVEEEE	PPSAPAVWAGEEETELEEEEVEEEE	8.0	2.0	unscreened	-	3713_15:40588817-40588817 C>T_PPSAPAVWAGEEETELEEEEVEEEE
19:45853668-45853668 G>A	1.0	3713	MELANOMA	-	-	-	-	KLC3	uc002pbg.1,p.E419K|ENST00000470402,p.E419K|ENST00000391946,p.E405K|uc010ejy.1,p.E404K|NM_177417,p.E405K|ENST00000585434,p.E404K|uc002pbf.1,p.E405K	retained_intron, protein_coding	uc010ejy.1	nonsynonymous SNV	exon9	c.G1210A	p.E404K	QAEELYKEILHKEDLPAPLGAPNTG	QAEELYKEILHKKDLPAPLGAPNTG	1.0	10.0	-	-	3713_19:45853668-45853668 G>A_QAEELYKEILHKKDLPAPLGAPNTG
X:12937689-12937689 T>C	0.0	3713	MELANOMA	-	-	-	-	TLR8	ENST00000311912,p.L195S|NM_138636,p.L177S|ENST00000218032,p.L177S|uc004cve.3,p.L177S|NM_016610,p.L195S|uc004cvd.3,p.L195S	protein_coding	uc004cve.3	nonsynonymous SNV	exon2	c.T530C	p.L177S	GISRLINLKNLYLAWNCYFNKVCEK	GISRLINLKNLYSAWNCYFNKVCEK	4.0	7.0	unscreened	-	3713_X:12937689-12937689 T>C_GISRLINLKNLYSAWNCYFNKVCEK
12:41900364-41900364 G>A	0.0	3713	MELANOMA	-	-	-	-	PDZRN4	ENST00000402685,p.S317N|uc010skn.2,p.S317N|ENST00000539469,p.S59N|ENST00000298919,p.S57N|NM_013377,p.S59N|uc009zjz.3,p.S57N|uc001rmq.4,p.S59N|NM_001164595,p.S317N	retained_intron, protein_coding	uc010skn.2	nonsynonymous SNV	exon4	c.G950A	p.S317N	PIVVQVLRRTPLSRPAYGMASEVQL	PIVVQVLRRTPLNRPAYGMASEVQL	1.0	10.0	unscreened	-	3713_12:41900364-41900364 G>A_PIVVQVLRRTPLNRPAYGMASEVQL
1:45297412-45297412 C>T	0.0	3713	MELANOMA	-	-	-	-	PTCH2	uc021omv.1,p.G195R|uc010olf.2,p.G195R|ENST00000447098,p.G195R|ENST00000372192,p.G195R|NM_001166292,p.G195R|NM_003738,p.G195R	protein_coding	uc021omv.1	nonsynonymous SNV	exon5	c.G583A	p.G195R	CVILTPLDCFWEGAKLQGGSAYLPG	CVILTPLDCFWERAKLQGGSAYLPG	1.0	1.0	unscreened	-	3713_1:45297412-45297412 C>T_CVILTPLDCFWERAKLQGGSAYLPG
10:50081627-50081627 A>G	0.0	3713	MELANOMA	-	-	-	-	WDFY4	NM_020945,p.E2278G|ENST00000325239,p.E2278G|uc001jha.4,p.E2278G	protein_coding, processed_transcript	uc001jha.4	nonsynonymous SNV	exon41	c.A6833G	p.E2278G	QLFGELGLWSQGEETKPCSPWELDW	QLFGELGLWSQGGETKPCSPWELDW	3.0	4.0	unscreened	-	3713_10:50081627-50081627 A>G_QLFGELGLWSQGGETKPCSPWELDW
2:168105599-168105599 C>T	0.0	3713	MELANOMA	-	-	-	-	XIRP2	ENST00000409195,p.S2566F|uc002udy.3,p.S2391F|uc002udx.3,p.S2566F|ENST00000409273,p.S2344F|NM_152381,p.S2566F|ENST00000295237,p.S2566F|NM_001199144,p.S2344F|uc010fpq.3,p.S2344F	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.C7031T	p.S2344F	QKEEIEKQKQESSYYNIVKTQSQNQ	QKEEIEKQKQESFYYNIVKTQSQNQ	1.0	4.0	unscreened	-	3713_2:168105599-168105599 C>T_QKEEIEKQKQESFYYNIVKTQSQNQ
3:170908539-170908539 C>T	1.0	3713	MELANOMA	-	-	-	-	TNIK	uc003fhl.2,p.R152Q|ENST00000468757,p.R126Q|uc003fhh.2,p.R152Q|NM_001161564,p.R152Q|uc003fhj.2,p.R152Q|NM_001161562,p.R152Q|ENST00000460047,p.R152Q|ENST00000470834,p.R152Q|uc003fhn.2,p.R152Q|ENST00000475336,p.R152Q|ENST00000357327,p.R152Q|ENST00000369326,p.R152Q|NM_001161561,p.R152Q|uc003fhm.2,p.R152Q|NM_001161565,p.R152Q|uc003fho.2,p.R152Q|NM_015028,p.R152Q|ENST00000488470,p.R152Q|ENST00000538048,p.R152Q|ENST00000284483,p.R152Q|NM_001161563,p.R152Q|NM_001161560,p.R152Q|uc003fhk.2,p.R152Q|uc003fhi.2,p.R152Q|ENST00000341852,p.R152Q|NM_001161566,p.R152Q|ENST00000436636,p.R152Q	retained_intron, protein_coding, processed_transcript	uc003fho.2	nonsynonymous SNV	exon6	c.G455A	p.R152Q	GLSHLHQHKVIHRDIKGQNVLLTEN	GLSHLHQHKVIHQDIKGQNVLLTEN	9.0	7.0	-	-	3713_3:170908539-170908539 C>T_GLSHLHQHKVIHQDIKGQNVLLTEN
12:113557057-113557057 T>C	0.0	3713	MELANOMA	-	-	-	-	RASAL1	NM_001193520,p.K173R|uc001tum.2,p.K173R|NM_001301202,p.K173R|ENST00000548055,p.K173R|uc001tun.2,p.K173R|uc001tul.3,p.K173R|uc010syr.2,p.K173R|uc010syp.2,p.K173R|uc001tuo.4,p.K173R|ENST00000261729,p.K173R|ENST00000446861,p.K173R|NM_001193521,p.K173R|uc010syq.2,p.K173R|NM_004658,p.K173R|ENST00000546530,p.K173R	retained_intron, protein_coding, processed_transcript	uc010syr.2	nonsynonymous SNV	exon7	c.A518G	p.K173R	FWGSQSLETSTIKKTRFPHWDEVLE	FWGSQSLETSTIRKTRFPHWDEVLE	2.0	10.0	unscreened	-	3713_12:113557057-113557057 T>C_FWGSQSLETSTIRKTRFPHWDEVLE
11:65124148-65124148 C>T	0.0	3713	MELANOMA	-	-	-	-	TIGD3	uc021qlj.1,p.S290F|uc001odo.4,p.S290F|ENST00000309880,p.S290F|NM_145719,p.S290F	protein_coding	uc021qlj.1	nonsynonymous SNV	exon1	c.C869T	p.S290F	GLYHVKLLPLAASSTTPPLPSSVVR	GLYHVKLLPLAAFSTTPPLPSSVVR	1.0	2.0	unscreened	-	3713_11:65124148-65124148 C>T_GLYHVKLLPLAAFSTTPPLPSSVVR
7:92099423-92099423 C>T	0.0	3713	MELANOMA	-	-	-	-	GATAD1,PEX1	ENST00000603053,p.M91I|uc022ahe.1,p.M91I|ENST00000493463,p.M91I	protein_coding	uc022ahe.1	nonsynonymous SNV	exon1	c.G273A	p.M91I	CMHANTHYWTGKMINPSCPGGLGVT	CMHANTHYWTGKIINPSCPGGLGVT	1.0	1.0	unscreened	-	3713_7:92099423-92099423 C>T_CMHANTHYWTGKIINPSCPGGLGVT
12:43858458-43858458 C>T	0.0	3713	MELANOMA	0.0005	-	ID=COSM693990,COSM693989;OCCURENCE=1(lung)	-	ADAMTS20	ENST00000389420,p.R482Q|ENST00000553158,p.R482Q|uc010skx.2,p.R482Q|NM_025003,p.R482Q	protein_coding	uc010skx.2	nonsynonymous SNV	exon10	c.G1445A	p.R482Q	EIYNLPSELPGSRYDGNKQCELAFG	EIYNLPSELPGSQYDGNKQCELAFG	1.0	2.0	unscreened	-	3713_12:43858458-43858458 C>T_EIYNLPSELPGSQYDGNKQCELAFG
15:32460354-32460354 G>A	0.0	3713	MELANOMA	-	-	-	-	CHRNA7	NM_000746,p.D402N|ENST00000455693,p.D221N|ENST00000454250,p.D431N|uc010baf.4,p.D221N|NM_001190455,p.D431N|ENST00000306901,p.D402N|uc021sic.2,p.D431N|uc010bak.3,p.D317N|uc001zft.4,p.D402N	protein_coding, nonsense_mediated_decay	uc021sic.2	nonsynonymous SNV	exon10	c.G1291A	p.D431N	RGLDGVHCVPTPDSGVVCGRMACSP	RGLDGVHCVPTPNSGVVCGRMACSP	1.0	3.0	unscreened	-	3713_15:32460354-32460354 G>A_RGLDGVHCVPTPNSGVVCGRMACSP
12:49742869-49742869 G>A	1.0	3713	MELANOMA	-	-	-	-	DNAJC22	uc001rua.3,p.V72M|NM_024902,p.V72M|ENST00000549441,p.V72M|ENST00000395069,p.V72M|uc001rub.3,p.V72M	retained_intron, protein_coding, processed_transcript	uc001rub.3	nonsynonymous SNV	exon3	c.G214A	p.V72M	NRAQGQRQSPRGVTPPLSPIRFAAQ	NRAQGQRQSPRGMTPPLSPIRFAAQ	2.0	4.0	-	-	3713_12:49742869-49742869 G>A_NRAQGQRQSPRGMTPPLSPIRFAAQ
2:179634831-179634831 G>A	0.0	3713	MELANOMA	-	-	-	-	TTN	ENST00000342175,p.A2820V|uc031rqc.1,p.A2866V|NM_133432,p.A2820V|uc031rqd.1,p.A2866V|uc021vta.2,p.A2820V|ENST00000359218,p.A2820V|NM_001267550,p.A2866V|ENST00000360870,p.A2866V|ENST00000342992,p.A2866V|ENST00000589042,p.A2866V|NM_133379,p.A2866V|NM_133378,p.A2866V|uc021vtb.2,p.A2820V|uc021vsz.2,p.A2820V|ENST00000591111,p.A2866V|uc002unb.3,p.A2866V|NM_003319,p.A2820V|NM_133437,p.A2820V|NM_001256850,p.A2866V|uc021vsy.2,p.A2866V|ENST00000460472,p.A2820V	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon36	c.C8597T	p.A2866V	QNISPSDAGEYTAVVGQLECKAKLF	QNISPSDAGEYTVVVGQLECKAKLF	1.0	5.0	unscreened	-	3713_2:179634831-179634831 G>A_QNISPSDAGEYTVVVGQLECKAKLF
5:138729681-138729681 C>T	0.0	3713	MELANOMA	-	-	-	-	PROB1	uc011czc.1,p.D364N|NM_001161546,p.D364N|ENST00000434752,p.D364N	protein_coding	uc011czc.1	nonsynonymous SNV	exon1	c.G1090A	p.D364N	EARKTRFPREAPDRTVQRARSPPFE	EARKTRFPREAPNRTVQRARSPPFE	2.0	5.0	unscreened	-	3713_5:138729681-138729681 C>T_EARKTRFPREAPNRTVQRARSPPFE
19:7184378-7184378 T>C	1.0	3713	MELANOMA	-	-	-	-	INSR	NM_000208,p.N308S|uc002mge.1,p.N308S|uc002mgd.1,p.N308S|NM_001079817,p.N308S|ENST00000302850,p.N308S|uc002mgf.3,p.N308S|ENST00000341500,p.N308S	retained_intron, protein_coding	uc002mgf.3	nonsynonymous SNV	exon3	c.A923G	p.N308S	SRRQGCHQYVIHNNKCIPECPSGYT	SRRQGCHQYVIHSNKCIPECPSGYT	4.0	1.0	unscreened	-	3713_19:7184378-7184378 T>C_SRRQGCHQYVIHSNKCIPECPSGYT
6:32362758-32362758 C>T	0.0	3713	MELANOMA	-	-	-	-	BTNL2	uc010jua.1,p.G165R|ENST00000414363,p.G165R|uc003obg.1,p.G375R|ENST00000374993,p.G375R|ENST00000454136,p.G375R|ENST00000544175,p.G98R|ENST00000374995,p.G281R|ENST00000540315,p.G165R|NM_019602,p.G375R	protein_coding, nonsense_mediated_decay	uc010jua.1	nonsynonymous SNV	exon4	c.G493A	p.G165R	SSPLITVEGQEDGEMQPMCSSDGWF	SSPLITVEGQEDREMQPMCSSDGWF	1.0	8.0	unscreened	-	3713_6:32362758-32362758 C>T_SSPLITVEGQEDREMQPMCSSDGWF
X:3240677-3240677 A>C	0.0	3713	MELANOMA	-	-	-	-	MXRA5	ENST00000217939,p.L1017V|uc004crg.4,p.L1017V|NM_015419,p.L1017V	protein_coding	uc004crg.4	nonsynonymous SNV	exon5	c.T3049G	p.L1017V	PTIWVNDSSTSQLFEDSTIGEPGVP	PTIWVNDSSTSQVFEDSTIGEPGVP	5.0	10.0	unscreened	-	3713_X:3240677-3240677 A>C_PTIWVNDSSTSQVFEDSTIGEPGVP
5:157073794-157073794 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1065057;OCCURENCE=1(endometrium)	-	SOX30	NM_007017,p.R413Q|ENST00000311371,p.R413Q|uc003lxb.1,p.R413Q|uc011dds.1,p.R108Q|uc003lxc.1,p.R413Q|ENST00000265007,p.R413Q|NM_178424,p.R413Q|ENST00000519442,p.R108Q	protein_coding	uc011dds.1	nonsynonymous SNV	exon4	c.G323A	p.R108Q	FPGWVYQPRPGKRKRFPLSVSNVFS	FPGWVYQPRPGKQKRFPLSVSNVFS	1.0	10.0	unscreened	-	3713_5:157073794-157073794 C>T_FPGWVYQPRPGKQKRFPLSVSNVFS
12:56873669-56873669 C>T	0.0	3713	MELANOMA	-	-	-	-	GLS2	NM_013267,p.G100E|ENST00000424141,p.G100E|ENST00000539272,p.G100E|ENST00000486896,p.G100E|ENST00000311966,p.G100E|uc001slj.3,p.G100E|ENST00000479952,p.G100E|ENST00000486433,p.G100E|ENST00000461077,p.G100E|uc021qzb.1,p.G63E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qzb.1	nonsynonymous SNV	exon2	c.G188A	p.G63E	PIHKFTTALKATGLQTSDPRLRDCM	PIHKFTTALKATELQTSDPRLRDCM	2.0	3.0	unscreened	-	3713_12:56873669-56873669 C>T_PIHKFTTALKATELQTSDPRLRDCM
6:132031110-132031110 C>T	0.0	3713	MELANOMA	-	-	-	-	CTAGE9	NM_001145659,p.E350K|ENST00000314099,p.E350K|uc011ece.2,p.E350K	protein_coding	uc011ece.2	nonsynonymous SNV	exon1	c.G1048A	p.E350K	IIIQLSEVDKTKEELTEHIKNLQTQ	IIIQLSEVDKTKKELTEHIKNLQTQ	1.0	1.0	unscreened	-	3713_6:132031110-132031110 C>T_IIIQLSEVDKTKKELTEHIKNLQTQ
4:165890680-165890680 C>T	1.0	3713	MELANOMA	-	-	-	-	TRIM61	NM_001012414,p.E159K|uc003iqw.3,p.E159K|ENST00000329314,p.E159K	protein_coding	uc003iqw.3	nonsynonymous SNV	exon3	c.G475A	p.E159K	YNAPWKERVELIEKVITMQTRKSLE	YNAPWKERVELIKKVITMQTRKSLE	1.0	7.0	unscreened	-	3713_4:165890680-165890680 C>T_YNAPWKERVELIKKVITMQTRKSLE
6:44241187-44241187 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1229574;OCCURENCE=1(large_intestine)	-	TMEM151B	ENST00000438774,p.R174C|NM_001137560,p.R174C|uc003oxf.2,p.R174C|ENST00000451188,p.R174C|uc003oxh.2,p.R174C	protein_coding, nonsense_mediated_decay	uc003oxh.2	nonsynonymous SNV	exon2	c.C520T	p.R174C	CIWWKAISYHYVRRTRQVTRYRNGD	CIWWKAISYHYVCRTRQVTRYRNGD	1.0	5.0	unscreened	-	3713_6:44241187-44241187 C>T_CIWWKAISYHYVCRTRQVTRYRNGD
2:103001338-103001338 G>A	0.0	3713	MELANOMA	-	-	-	-	IL18R1	ENST00000410040,p.G230E|uc010ywd.2,p.G75E|NM_001282399,p.G75E|ENST00000233957,p.G230E|uc010ywc.2,p.G230E|uc002tbw.4,p.G230E|uc010fiy.3,p.G230E|ENST00000409599,p.G230E|NM_003855,p.G230E	retained_intron, protein_coding	uc010ywd.2	nonsynonymous SNV	exon6	c.G224A	p.G75E	LGPKLNHVAVELGKNVRLNCSALLN	LGPKLNHVAVELEKNVRLNCSALLN	3.0	10.0	unscreened	-	3713_2:103001338-103001338 G>A_LGPKLNHVAVELEKNVRLNCSALLN
7:91793247-91793247 G>A	0.0	3713	MELANOMA	-	-	-	-	LRRD1	ENST00000458448,p.H424Y|ENST00000430130,p.H424Y|NM_001161528,p.H424Y|uc011khp.1,p.H424Y	protein_coding, processed_transcript	uc011khp.1	nonsynonymous SNV	exon1	c.C1270T	p.H424Y	KYIHKLNNLRKLHVNRNNMVKITDC	KYIHKLNNLRKLYVNRNNMVKITDC	1.0	9.0	unscreened	-	3713_7:91793247-91793247 G>A_KYIHKLNNLRKLYVNRNNMVKITDC
17:15522784-15522784 G>A	0.0	3713	MELANOMA	-	-	-	-	CDRT1	NM_001282540,p.R15C|ENST00000395906,p.R15C|uc002gov.4,p.R15C|NM_006382,p.R15C	retained_intron, protein_coding, nonsense_mediated_decay	uc002gov.4	nonsynonymous SNV	exon1	c.C43T	p.R15C	NLESRLKNAPYFRCEKGTDSIPLCR	NLESRLKNAPYFCCEKGTDSIPLCR	2.0	1.0	unscreened	-	3713_17:15522784-15522784 G>A_NLESRLKNAPYFCCEKGTDSIPLCR
3:14860792-14860792 C>T	0.0	3713	MELANOMA	-	-	-	-	FGD5	NM_152536,p.P72S|uc003bzc.3,p.P72S|ENST00000285046,p.P72S|uc011avk.2,p.P72S	retained_intron, protein_coding, processed_transcript	uc011avk.2	nonsynonymous SNV	exon1	c.C214T	p.P72S	ETDEDYIVVPRVPLREDEPKDEGSV	ETDEDYIVVPRVSLREDEPKDEGSV	3.0	2.0	unscreened	-	3713_3:14860792-14860792 C>T_ETDEDYIVVPRVSLREDEPKDEGSV
X:114424981-114424981 G>A	0.0	3713	MELANOMA	-	-	-	-	RBMXL3	uc011mte.1,p.G326E|NM_001145346,p.G326E|ENST00000424776,p.G326E	protein_coding	uc011mte.1	nonsynonymous SNV	exon1	c.G977A	p.G326E	APVWGTPPSYGGGCRYEEYQGNSPD	APVWGTPPSYGGECRYEEYQGNSPD	1.0	9.0	unscreened	-	3713_X:114424981-114424981 G>A_APVWGTPPSYGGECRYEEYQGNSPD
7:14622746-14622746 C>T	0.0	3713	MELANOMA	-	-	-	-	DGKB	ENST00000402815,p.D484N|ENST00000399322,p.D485N|uc003sta.3,p.D485N|ENST00000258767,p.D485N|ENST00000444700,p.D466N|ENST00000406247,p.D485N|uc011jxu.2,p.D484N|ENST00000403951,p.D485N|uc003ssz.3,p.D485N|ENST00000407950,p.D477N|uc011jxt.2,p.D466N|NM_145695,p.D485N|NM_004080,p.D485N	retained_intron, protein_coding, processed_transcript	uc011jxu.2	nonsynonymous SNV	exon17	c.G1450A	p.D484N	GNGPMPGLNFFRDVPDFRVLACGGD	GNGPMPGLNFFRNVPDFRVLACGGD	1.0	8.0	unscreened	-	3713_7:14622746-14622746 C>T_GNGPMPGLNFFRNVPDFRVLACGGD
11:6891575-6891575 C>T	0.0	3713	MELANOMA	-	-	-	-	OR10A2	ENST00000307322,p.P197L|NM_001004460,p.P197L|uc001meu.1,p.P197L	protein_coding	uc001meu.1	nonsynonymous SNV	exon1	c.C590T	p.P197L	YAIVGTILVVMIPCLLILCSYTHIA	YAIVGTILVVMILCLLILCSYTHIA	1.0	7.0	unscreened	-	3713_11:6891575-6891575 C>T_YAIVGTILVVMILCLLILCSYTHIA
3:58190496-58190496 C>T	0.0	3713	MELANOMA	-	-	-	-	DNASE1L3	ENST00000483681,p.A145T|ENST00000477209,p.A19T|ENST00000394549,p.A145T|uc011bfd.2,p.A115T|NM_004944,p.A145T|ENST00000486455,p.A115T|ENST00000318316,p.A145T|uc003djo.2,p.A145T|ENST00000461914,p.A145T|NM_001256560,p.A115T|uc003djq.1,p.A145T	retained_intron, protein_coding	uc011bfd.2	nonsynonymous SNV	exon3	c.G343A	p.A115T	EPFVVWFQSPHTAVKDFVIIPLHTT	EPFVVWFQSPHTTVKDFVIIPLHTT	1.0	3.0	unscreened	-	3713_3:58190496-58190496 C>T_EPFVVWFQSPHTTVKDFVIIPLHTT
7:150325166-150325166 C>T	0.0	3713	MELANOMA	-	-	-	-	GIMAP6	uc031szs.1,p.E196K|uc022apv.1,p.E244K|NM_024711,p.E174K|ENST00000328902,p.E174K|uc003whn.3,p.E174K|NM_001244072,p.E244K	protein_coding	uc031szs.1	nonsynonymous SNV	exon2	c.G586A	p.E196K	FTRKEDLAGGSLEDYVRETNNQALA	FTRKEDLAGGSLKDYVRETNNQALA	7.0	1.0	unscreened	-	3713_7:150325166-150325166 C>T_FTRKEDLAGGSLKDYVRETNNQALA
1:156351627-156351627 G>A	0.0	3713	MELANOMA	-	-	-	-	RHBG	NM_020407,p.G291R|ENST00000255013,p.G222R|ENST00000537040,p.G129R|NM_001256396,p.G261R|ENST00000368249,p.G291R|uc031pqo.1,p.G261R|uc031pqn.1,p.G222R|uc010pho.3,p.G291R|uc010phm.2,p.G129R|NM_001256395,p.G222R|ENST00000368246,p.G291R|uc009wrz.4,p.G259R|ENST00000400992,p.G259R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pqo.1	nonsynonymous SNV	exon7	c.G781A	p.G261R	DMVHIQNAALAGGVVVGTSSEMMLT	DMVHIQNAALAGRVVVGTSSEMMLT	1.0	4.0	unscreened	-	3713_1:156351627-156351627 G>A_DMVHIQNAALAGRVVVGTSSEMMLT
6:38877462-38877462 G>A	0.0	3713	MELANOMA	-	-	-	-	DNAH8	uc021yzh.1,p.E3228K|NM_001206927,p.E3228K|uc003ooe.2,p.E3011K|ENST00000441566,p.E2975K|ENST00000449981,p.E3228K|ENST00000327475,p.E3216K|ENST00000359357,p.E3011K	protein_coding	uc021yzh.1	nonsynonymous SNV	exon65	c.G9682A	p.E3228K	IVCSSEIKRQVVETMGLFHDMVSES	IVCSSEIKRQVVKTMGLFHDMVSES	1.0	7.0	unscreened	-	3713_6:38877462-38877462 G>A_IVCSSEIKRQVVKTMGLFHDMVSES
7:103338341-103338341 C>T	0.0	3713	MELANOMA	-	-	ID=COSM145857;OCCURENCE=1(skin),2(haematopoietic_and_lymphoid_tissue)	-	RELN	ENST00000424685,p.D368N|NM_005045,p.D368N|uc010liz.3,p.D368N|ENST00000428762,p.D368N|uc022ajr.1,p.D368N|NM_173054,p.D368N|uc022ajq.1,p.D368N|ENST00000343529,p.D368N	retained_intron, protein_coding, processed_transcript	uc022ajr.1	nonsynonymous SNV	exon10	c.G1102A	p.D368N	RQVVLEDSLDPVDTGNWLFFPGATV	RQVVLEDSLDPVNTGNWLFFPGATV	1.0	1.0	unscreened	-	3713_7:103338341-103338341 C>T_RQVVLEDSLDPVNTGNWLFFPGATV
4:188924160-188924160 G>A	0.0	3713	MELANOMA	-	-	-	-	ZFP42	ENST00000326866,p.D67N|NM_174900,p.D67N|ENST00000509524,p.D67N|uc003izh.1,p.D67N|uc003izi.1,p.D67N|uc021xvm.1,p.D67N	protein_coding	uc021xvm.1	nonsynonymous SNV	exon1	c.G199A	p.D67N	CYEPGPQALGGDDFSDCYIECVIRG	CYEPGPQALGGDNFSDCYIECVIRG	1.0	10.0	unscreened	-	3713_4:188924160-188924160 G>A_CYEPGPQALGGDNFSDCYIECVIRG
1:151337409-151337409 G>A	0.0	3713	MELANOMA	-	-	-	-	SELENBP1	ENST00000368868,p.L417F|uc001exx.4,p.L417F|NM_001258289,p.L459F|NM_003944,p.L417F|ENST00000426705,p.L459F|uc010pcy.3,p.L459F|uc001eya.4,p.L353F|NM_001258288,p.L355F|ENST00000447402,p.L355F|uc010pcz.3,p.L355F|ENST00000435071,p.L353F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010pcz.3	nonsynonymous SNV	exon10	c.C1063T	p.L355F	LYSAWDKQFYPDLIREGSVMLQVDV	LYSAWDKQFYPDFIREGSVMLQVDV	3.0	2.0	unscreened	-	3713_1:151337409-151337409 G>A_LYSAWDKQFYPDFIREGSVMLQVDV
6:29408054-29408054 C>T	0.0	3713	MELANOMA	-	-	-	-	OR10C1	uc011dlp.2,p.R88W|ENST00000444197,p.R88W|NM_013941,p.R88W	protein_coding	uc011dlp.2	nonsynonymous SNV	exon1	c.C262T	p.R88W	TVPLLLHHLLTGRRHISRSGCALQM	TVPLLLHHLLTGWRHISRSGCALQM	1.0	1.0	unscreened	-	3713_6:29408054-29408054 C>T_TVPLLLHHLLTGWRHISRSGCALQM
X:35820606-35820606 C>T	0.0	3713	MELANOMA	-	-	-	-	MAGEB16	ENST00000399989,p.S98F|ENST00000399985,p.S98F|ENST00000399992,p.S130F|ENST00000399987,p.S98F|uc022bus.1,p.S98F|uc010ngt.1,p.S98F|NM_001099921,p.S98F|ENST00000399988,p.S98F	protein_coding	uc022bus.1	nonsynonymous SNV	exon1	c.C293T	p.S98F	ASSNQEEEDSPSSSEDTSDPRNVPA	ASSNQEEEDSPSFSEDTSDPRNVPA	1.0	10.0	unscreened	-	3713_X:35820606-35820606 C>T_ASSNQEEEDSPSFSEDTSDPRNVPA
1:57340760-57340760 G>A	0.0	3713	MELANOMA	-	-	-	-	C8A	NM_000562,p.E104K|uc001cyo.2,p.E104K|ENST00000361249,p.E104K	protein_coding	uc001cyo.2	nonsynonymous SNV	exon3	c.G310A	p.E104K	RQAQCGQDFQCKETGRCLKRHLVCN	RQAQCGQDFQCKKTGRCLKRHLVCN	1.0	1.0	unscreened	-	3713_1:57340760-57340760 G>A_RQAQCGQDFQCKKTGRCLKRHLVCN
15:22369480-22369480 A>G	0.0	3713	MELANOMA	-	-	-	-	OR4M2	NM_001004719,p.K302R|ENST00000332663,p.K302R|uc010tzu.2,p.K302R	protein_coding	uc010tzu.2	nonsynonymous SNV	exon1	c.A905G	p.K302R	TLRNKEVKAAMRKLVTKYILCKEK	TLRNKEVKAAMRRLVTKYILCKEK	1.0	1.0	unscreened	-	3713_15:22369480-22369480 A>G_TLRNKEVKAAMRRLVTKYILCKEK
14:94044287-94044287 C>T	0.0	3713	MELANOMA	-	-	-	-	UNC79	uc001ybs.1,p.P594S|uc001ybv.1,p.P594S|ENST00000555664,p.P771S|ENST00000393151,p.P771S|ENST00000256339,p.P594S|ENST00000553484,p.P771S|NM_020818,p.P594S	retained_intron, protein_coding	uc001ybv.1	nonsynonymous SNV	exon15	c.C1780T	p.P594S	PFQSPFRSPLRSPFRSPFKNFGHPG	PFQSPFRSPLRSSFRSPFKNFGHPG	1.0	10.0	unscreened	-	3713_14:94044287-94044287 C>T_PFQSPFRSPLRSSFRSPFKNFGHPG
11:7068003-7068003 C>T	0.0	3713	MELANOMA	-	-	-	-	NLRP14	ENST00000299481,p.S688L|NM_176822,p.S688L|uc001mfb.1,p.S688L	protein_coding	uc001mfb.1	nonsynonymous SNV	exon5	c.C2063T	p.S688L	RELDLYHSNLDKSAMNILHHELRHP	RELDLYHSNLDKLAMNILHHELRHP	1.0	7.0	unscreened	-	3713_11:7068003-7068003 C>T_RELDLYHSNLDKLAMNILHHELRHP
12:97151350-97151350 C>T	0.0	3713	MELANOMA	-	-	-	-	CDK17,NEDD1	uc021rcc.1,p.S1100L|ENST00000524981,p.S1126L	-	uc021rcc.1	nonsynonymous SNV	exon25	c.C3299T	p.S1100L	FHLKKPKIKISGSPLTLKPPLRRSS	FHLKKPKIKISGLPLTLKPPLRRSS	1.0	5.0	unscreened	-	3713_12:97151350-97151350 C>T_FHLKKPKIKISGLPLTLKPPLRRSS
2:179466156-179466156 C>T	0.0	3713	MELANOMA	-	-	-	-	TTN	uc021vtb.2,p.G9458E|ENST00000460472,p.G9458E|ENST00000589042,p.G18523E|NM_133378,p.G15955E|ENST00000342992,p.G15955E|NM_003319,p.G9458E|NM_133432,p.G9583E|NM_001256850,p.G16882E|ENST00000359218,p.G9583E|ENST00000342175,p.G9650E|uc021vsy.2,p.G15955E|uc031rqc.1,p.G18523E|NM_133437,p.G9650E|uc021vta.2,p.G9583E|ENST00000591111,p.G16882E|uc021vsz.2,p.G9650E|uc031rqd.1,p.G16882E|NM_001267550,p.G18523E	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon237	c.G50645A	p.G16882E	IKGYVIEKRTIDGKAWTKVNPDCGS	IKGYVIEKRTIDEKAWTKVNPDCGS	1.0	10.0	unscreened	-	3713_2:179466156-179466156 C>T_IKGYVIEKRTIDEKAWTKVNPDCGS
5:140307270-140307270 A>G	0.0	3713	MELANOMA	-	-	-	-	PCDHAC1	NM_031882,p.N265D|ENST00000253807,p.N265D|uc003lig.1,p.N265D|uc003lih.2,p.N265D|NM_018898,p.N265D|ENST00000409700,p.N265D	protein_coding	uc003lih.2	nonsynonymous SNV	exon1	c.A793G	p.N265D	FRVQALDPDEGSNGEVQYSLSNSTQ	FRVQALDPDEGSDGEVQYSLSNSTQ	1.0	9.0	unscreened	-	3713_5:140307270-140307270 A>G_FRVQALDPDEGSDGEVQYSLSNSTQ
13:28589370-28589370 G>A	0.0	3713	MELANOMA	-	-	-	1	FLT3	ENST00000241453,p.P893S|ENST00000380982,p.P896S|ENST00000537084,p.P852S|uc010tdn.2,p.P852S|uc001urw.3,p.P893S|NM_004119,p.P893S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tdn.2	nonsynonymous SNV	exon21	c.C2554T	p.P852S	IFSLGVNPYPGIPVDANFYKLIQNG	IFSLGVNPYPGISVDANFYKLIQNG	1.0	3.0	unscreened	-	3713_13:28589370-28589370 G>A_IFSLGVNPYPGISVDANFYKLIQNG
9:136509415-136509415 C>T	0.0	3713	MELANOMA	-	-	-	-	DBH	NM_000787,p.H333Y|uc004cel.3,p.H333Y|ENST00000393056,p.H333Y	protein_coding	uc004cel.3	nonsynonymous SNV	exon5	c.C997T	p.H333Y	GPGSSRYLRLEVHYHNPLVIEGRND	GPGSSRYLRLEVYYHNPLVIEGRND	1.0	3.0	unscreened	-	3713_9:136509415-136509415 C>T_GPGSSRYLRLEVYYHNPLVIEGRND
1:115161030-115161030 C>A	0.0	3713	MELANOMA	-	-	-	-	DENND2C	uc001efc.1,p.G377V|ENST00000393274,p.G434V|NM_001256404,p.G434V|ENST00000393276,p.G377V|ENST00000393277,p.G434V|NM_198459,p.G377V|uc001efd.1,p.G434V	protein_coding, processed_transcript	uc001efd.1	nonsynonymous SNV	exon8	c.G1301T	p.G434V	RGKKKVKLHSYTGKELPPTKGETSG	RGKKKVKLHSYTVKELPPTKGETSG	1.0	6.0	unscreened	-	3713_1:115161030-115161030 C>A_RGKKKVKLHSYTVKELPPTKGETSG
8:23564063-23564063 G>C	0.0	3713	MELANOMA	-	-	-	-	NKX2-6	ENST00000325017,p.L17V|NM_001136271,p.L17V|uc011kzy.3,p.L17V	protein_coding	uc011kzy.3	nonsynonymous SNV	exon1	c.C49G	p.L17V	PVTSTPFSVKDILRLERERSCPAAS	PVTSTPFSVKDIVRLERERSCPAAS	1.0	2.0	unscreened	-	3713_8:23564063-23564063 G>C_PVTSTPFSVKDIVRLERERSCPAAS
1:112308595-112308595 C>T	1.0	3713	MELANOMA	-	-	-	-	DDX20	uc010owf.2,p.P279S|uc001ebt.3,p.P125S|NM_007204,p.P517S|uc001ebs.3,p.P517S|ENST00000475700,p.P125S|ENST00000369702,p.P517S	retained_intron, protein_coding, nonsense_mediated_decay	uc010owf.2	nonsynonymous SNV	exon10	c.C835T	p.P279S	SVKSKNNTKQKLPVKSHSECGIIEK	SVKSKNNTKQKLSVKSHSECGIIEK	5.0	10.0	-	-	3713_1:112308595-112308595 C>T_SVKSKNNTKQKLSVKSHSECGIIEK
6:7585023-7585023 G>A	0.0	3713	MELANOMA	-	-	-	-	DSP	NM_004415,p.G2510R|NM_001008844,p.G1911R|uc021yle.1,p.G2067R|uc003mxq.1,p.G1911R|uc003mxp.1,p.G2510R|ENST00000379802,p.G2510R|ENST00000418664,p.G1911R	retained_intron, protein_coding	uc021yle.1	nonsynonymous SNV	exon24	c.G6199A	p.G2067R	EQECEWEEITITGSDGSTRVVLVDR	EQECEWEEITITRSDGSTRVVLVDR	1.0	2.0	unscreened	-	3713_6:7585023-7585023 G>A_EQECEWEEITITRSDGSTRVVLVDR
8:3047632-3047632 G>A	0.0	3713	MELANOMA	-	-	-	-	CSMD1	NM_033225,p.P1734S|uc011kwj.2,p.P1127S|ENST00000400186,p.P1735S|uc022aqr.1,p.P1734S|ENST00000542608,p.P1734S|ENST00000520002,p.P1735S|ENST00000602557,p.P1735S|ENST00000537824,p.P1734S|ENST00000539096,p.P1734S|ENST00000602723,p.P1735S|uc003wqe.3,p.P891S	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon34	c.C5200T	p.P1734S	SARGFHFVYQAVPRTSDTQCSSVPE	SARGFHFVYQAVSRTSDTQCSSVPE	1.0	9.0	unscreened	-	3713_8:3047632-3047632 G>A_SARGFHFVYQAVSRTSDTQCSSVPE
1:1158641-1158641 A>C	1.0	3713	MELANOMA	-	-	-	-	SDF4	uc001adj.1,p.L65R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001adj.1	nonsynonymous SNV	exon2	c.T194G	p.L65R	KEVADAIRLNEELKVDEESECSARL	KEVADAIRLNEERKVDEESECSARL	10.0	4.0	unscreened	-	3713_1:1158641-1158641 A>C_KEVADAIRLNEERKVDEESECSARL
15:89753629-89753629 C>T	0.0	3713	MELANOMA	-	-	ID=COSM167765;OCCURENCE=2(large_intestine)	-	RLBP1	ENST00000268125,p.D281N|uc002bnl.3,p.D281N|NM_000326,p.D281N	retained_intron, protein_coding, nonsense_mediated_decay	uc002bnl.3	nonsynonymous SNV	exon9	c.G841A	p.D281N	HGDDLSGFYQEIDENILPSDFGGTL	HGDDLSGFYQEINENILPSDFGGTL	1.0	7.0	unscreened	-	3713_15:89753629-89753629 C>T_HGDDLSGFYQEINENILPSDFGGTL
1:228558793-228558793 G>A	1.0	3713	MELANOMA	-	-	-	-	OBSCN	ENST00000366707,p.D4406N|uc001hsr.1,p.D1401N|NM_001271223,p.D7729N|uc001hsq.2,p.D7729N|ENST00000422127,p.D6772N|uc009xez.2,p.D6772N|NM_001098623,p.D6772N|ENST00000570156,p.D7729N	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon94	c.G20314A	p.D6772N	MRSIPELLRGPPDSPSLGVARHLCR	MRSIPELLRGPPNSPSLGVARHLCR	5.0	8.0	unscreened	-	3713_1:228558793-228558793 G>A_MRSIPELLRGPPNSPSLGVARHLCR
16:52497914-52497914 G>A	0.0	3713	MELANOMA	-	-	-	-	TOX3	NM_001080430,p.P114S|NM_001146188,p.P109S|uc010vgt.1,p.P109S|ENST00000219746,p.P114S|uc002egw.2,p.P114S|ENST00000407228,p.P109S|ENST00000563091,p.P78S	retained_intron, protein_coding, nonsense_mediated_decay	uc010vgt.1	nonsynonymous SNV	exon4	c.C325T	p.P109S	FTPQFPPQSLDLPSITISRNLVEQD	FTPQFPPQSLDLSSITISRNLVEQD	1.0	4.0	unscreened	-	3713_16:52497914-52497914 G>A_FTPQFPPQSLDLSSITISRNLVEQD
12:126068397-126068397 G>A	0.0	3713	MELANOMA	-	-	-	-	TMEM132B	ENST00000299308,p.D427N|uc021rgl.1,p.D317N|NM_052907,p.D427N|uc001uhe.1,p.D427N	retained_intron, protein_coding, processed_transcript	uc021rgl.1	nonsynonymous SNV	exon4	c.G949A	p.D317N	QTTFVGIVPLAMDTEVLNTAILTGK	QTTFVGIVPLAMNTEVLNTAILTGK	1.0	5.0	unscreened	-	3713_12:126068397-126068397 G>A_QTTFVGIVPLAMNTEVLNTAILTGK
4:100774504-100774504 C>T	0.0	3713	MELANOMA	-	-	-	-	DAPP1	NM_014395,p.S163F|ENST00000296414,p.S163F|uc003hvf.4,p.S163F|ENST00000512369,p.S163F|uc010ilh.3,p.S163F	retained_intron, protein_coding	uc010ilh.3	nonsynonymous SNV	exon4	c.C488T	p.S163F	GRTEDDLVPTAPSLGTKEGYLTKQG	GRTEDDLVPTAPFLGTKEGYLTKQG	5.0	4.0	unscreened	-	3713_4:100774504-100774504 C>T_GRTEDDLVPTAPFLGTKEGYLTKQG
18:21404458-21404458 G>A	0.0	3713	MELANOMA	-	-	-	-	LAMA3	ENST00000399516,p.G834S|ENST00000313654,p.G834S|NM_198129,p.G834S|uc002kuq.3,p.G834S|uc002kur.3,p.G834S|NM_001127717,p.G834S	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc002kur.3	nonsynonymous SNV	exon21	c.G2500A	p.G834S	SKEPAFVTVPGNGFADPFSITPGIW	SKEPAFVTVPGNSFADPFSITPGIW	1.0	2.0	unscreened	-	3713_18:21404458-21404458 G>A_SKEPAFVTVPGNSFADPFSITPGIW
18:56414805-56414805 C>T	1.0	3713	MELANOMA	-	-	-	1	MALT1	ENST00000345724,p.P725S|ENST00000348428,p.P736S|NM_006785,p.P736S|uc002lhm.1,p.P736S|NM_173844,p.P725S|uc002lhn.1,p.P725S	retained_intron, protein_coding	uc002lhn.1	nonsynonymous SNV	exon16	c.C2173T	p.P725S	KTCFQTCLMSNGPYQSSAATSGGAG	KTCFQTCLMSNGSYQSSAATSGGAG	6.0	5.0	-	-	3713_18:56414805-56414805 C>T_KTCFQTCLMSNGSYQSSAATSGGAG
6:27278157-27278157 G>A	0.0	3713	MELANOMA	-	-	-	-	POM121L2	ENST00000377451,p.S534F|uc011dku.1,p.S598F|NM_033482,p.S598F|ENST00000444565,p.S598F	protein_coding	uc011dku.1	nonsynonymous SNV	exon1	c.C1793T	p.S598F	PLKTTPMIAPFSSKQTPPPFTHAST	PLKTTPMIAPFSFKQTPPPFTHAST	1.0	1.0	unscreened	-	3713_6:27278157-27278157 G>A_PLKTTPMIAPFSFKQTPPPFTHAST
8:77768338-77768338 C>A	0.0	3713	MELANOMA	-	-	-	-	ZFHX4	ENST00000518282,p.Q3035K|uc003yaw.1,p.Q3016K|ENST00000050961,p.Q3016K|ENST00000455469,p.Q3016K|ENST00000521891,p.Q3061K|NM_024721,p.Q3061K|uc003yau.2,p.Q3061K	retained_intron, protein_coding, nonsense_mediated_decay	uc003yaw.1	nonsynonymous SNV	exon9	c.C9046A	p.Q3016K	YLAPTTVRQLMAQQELDRIKKASDV	YLAPTTVRQLMAKQELDRIKKASDV	1.0	10.0	unscreened	-	3713_8:77768338-77768338 C>A_YLAPTTVRQLMAKQELDRIKKASDV
16:58324923-58324923 G>A	0.0	3713	MELANOMA	-	-	-	-	PRSS54	uc002enf.3,p.A68V|ENST00000219301,p.A68V|ENST00000569727,p.A68V|uc002eng.3,p.A68V|ENST00000567164,p.A68V|NM_001080492,p.A68V	protein_coding, processed_transcript	uc002eng.3	nonsynonymous SNV	exon4	c.C203T	p.A68V	VVSLQDSQYTHLAFGCILSEFWVLS	VVSLQDSQYTHLVFGCILSEFWVLS	1.0	5.0	unscreened	-	3713_16:58324923-58324923 G>A_VVSLQDSQYTHLVFGCILSEFWVLS
12:65720710-65720710 G>A	1.0	3713	MELANOMA	-	-	-	-	MSRB3	ENST00000355192,p.E68K|uc021qzy.1,p.E61K|uc009zqp.3,p.E61K|NM_001193461,p.E61K|NM_001193460,p.E61K|ENST00000535239,p.E61K|ENST00000538045,p.E61K|ENST00000540804,p.E68K|ENST00000308259,p.E61K|NM_001031679,p.E61K|NM_198080,p.E68K|uc001ssn.3,p.E68K|uc001ssm.3,p.E61K|ENST00000535664,p.E61K	protein_coding, processed_transcript, nonsense_mediated_decay	uc021qzy.1	nonsynonymous SNV	exon3	c.G181A	p.E61K	PLQYHVTQEKGTESAFEGEYTHHKD	PLQYHVTQEKGTKSAFEGEYTHHKD	5.0	3.0	unscreened	-	3713_12:65720710-65720710 G>A_PLQYHVTQEKGTKSAFEGEYTHHKD
9:107360791-107360791 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1701471;OCCURENCE=1(skin)	-	OR13C5	NM_001004482,p.D302N|ENST00000374779,p.D302N|uc011lvp.2,p.D302N	protein_coding	uc011lvp.2	nonsynonymous SNV	exon1	c.G904A	p.D302N	MMNPLIYSLRNKDVKEAVKHLLRRK	MMNPLIYSLRNKNVKEAVKHLLRRK	1.0	10.0	unscreened	-	3713_9:107360791-107360791 C>T_MMNPLIYSLRNKNVKEAVKHLLRRK
3:167245747-167245747 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1693750;OCCURENCE=2(skin)	-	WDR49	ENST00000476376,p.S295L|NM_178824,p.S470L|ENST00000308378,p.S470L|uc003fev.1,p.S470L|uc003feu.1,p.S295L	protein_coding, nonsense_mediated_decay	uc003fev.1	nonsynonymous SNV	exon11	c.C1409T	p.S470L	KNKITKAPTLIRSFQPHEDRISSLE	KNKITKAPTLIRLFQPHEDRISSLE	1.0	1.0	unscreened	-	3713_3:167245747-167245747 G>A_KNKITKAPTLIRLFQPHEDRISSLE
14:101348064-101348064 C>T	0.0	3713	MELANOMA	-	-	-	-	RTL1	NM_001134888,p.G1021E|uc010txj.1,p.G1021E|ENST00000534062,p.G1021E	protein_coding	uc010txj.1	nonsynonymous SNV	exon1	c.G3062A	p.G1021E	TAARQTLLLASRGFPRDPSTESGEE	TAARQTLLLASREFPRDPSTESGEE	1.0	9.0	unscreened	-	3713_14:101348064-101348064 C>T_TAARQTLLLASREFPRDPSTESGEE
4:185940985-185940985 G>A	0.0	3713	MELANOMA	-	-	-	-	HELT	NM_001300782,p.G73R|ENST00000505610,p.G73R|uc003ixa.3,p.G73R|uc011ckp.1,p.G17R	retained_intron, protein_coding	uc011ckp.1	nonsynonymous SNV	exon2	c.G49A	p.G17R	YLRALHSADFPRGREKELLAEFANY	YLRALHSADFPRRREKELLAEFANY	1.0	9.0	unscreened	-	3713_4:185940985-185940985 G>A_YLRALHSADFPRRREKELLAEFANY
7:48232616-48232616 C>T	0.0	3713	MELANOMA	-	-	-	-	ABCA13	ENST00000417403,p.R44C|NM_152701,p.R44C|ENST00000435803,p.R44C|uc003toq.2,p.R44C|uc003top.2,p.R44C	retained_intron, protein_coding, nonsense_mediated_decay	uc003toq.2	nonsynonymous SNV	exon2	c.C130T	p.R44C	WPCILFVILTVLRFQEPPRYRDICY	WPCILFVILTVLCFQEPPRYRDICY	1.0	4.0	unscreened	-	3713_7:48232616-48232616 C>T_WPCILFVILTVLCFQEPPRYRDICY
1:152058104-152058104 G>A	0.0	3713	MELANOMA	-	-	-	-	TCHHL1	uc001ezo.1,p.S685F|ENST00000368806,p.S685F|NM_001008536,p.S685F	protein_coding	uc001ezo.1	nonsynonymous SNV	exon3	c.C2054T	p.S685F	TGALDEDFTDQLSLMQLPGKGDSRN	TGALDEDFTDQLFLMQLPGKGDSRN	1.0	5.0	unscreened	-	3713_1:152058104-152058104 G>A_TGALDEDFTDQLFLMQLPGKGDSRN
16:78062066-78062066 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1709446;OCCURENCE=1(skin)	-	CLEC3A	ENST00000575655,p.E60K|NM_005752,p.E69K|uc002ffh.5,p.E69K|ENST00000299642,p.E69K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002ffh.5	nonsynonymous SNV	exon2	c.G205A	p.E69K	IEKLWTEVNALKEIQALQTVCLRGT	IEKLWTEVNALKKIQALQTVCLRGT	1.0	9.0	unscreened	-	3713_16:78062066-78062066 G>A_IEKLWTEVNALKKIQALQTVCLRGT
7:100680768-100680768 C>T	0.0	3713	MELANOMA	-	-	-	-	MUC17	ENST00000379439,p.S2024L|uc003uxp.1,p.S2024L|NM_001040105,p.S2024L|ENST00000306151,p.S2024L	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.C6071T	p.S2024L	TSTPATTSTEGSSSPTTAGGTSIQT	TSTPATTSTEGSLSPTTAGGTSIQT	1.0	1.0	unscreened	-	3713_7:100680768-100680768 C>T_TSTPATTSTEGSLSPTTAGGTSIQT
15:83013652-83013652 C>T	0.0	3713	MELANOMA	-	-	-	-	GOLGA6L10	NM_001164465,p.E311K	retained_intron, protein_coding	NM_001164465	nonsynonymous SNV	exon6	c.G931A	p.E311K	LREQEERLCEQEERLCEQEERLCEQ	LREQEERLCEQEKRLCEQEERLCEQ	1.0	1.0	unscreened	-	3713_15:83013652-83013652 C>T_LREQEERLCEQEKRLCEQEERLCEQ
9:77415264-77415264 C>T	0.0	3713	MELANOMA	-	-	-	-	TRPM6	uc004ajl.1,p.G715E|NM_001177311,p.G710E|ENST00000376864,p.G715E|ENST00000449912,p.G710E|uc004ajk.1,p.G710E|uc022bib.1,p.G710E|ENST00000451710,p.G715E|NM_001177310,p.G710E|NM_017662,p.G715E|ENST00000360774,p.G715E|ENST00000361255,p.G710E	protein_coding, processed_transcript	uc022bib.1	nonsynonymous SNV	exon17	c.G2129A	p.G710E	SNSTCLKLAVSGGLRPFVSHTCTQM	SNSTCLKLAVSGELRPFVSHTCTQM	1.0	5.0	unscreened	-	3713_9:77415264-77415264 C>T_SNSTCLKLAVSGELRPFVSHTCTQM
19:45822829-45822829 G>A	0.0	3713	MELANOMA	-	-	-	-	CKM	uc002pbd.4,p.P48L|ENST00000221476,p.P48L|NM_001824,p.P48L	protein_coding	uc002pbd.4	nonsynonymous SNV	exon2	c.C143T	p.P48L	LELYKKLRDKETPSGFTVDDVIQTG	LELYKKLRDKETLSGFTVDDVIQTG	1.0	7.0	unscreened	-	3713_19:45822829-45822829 G>A_LELYKKLRDKETLSGFTVDDVIQTG
18:59221488-59221488 G>A	0.0	3713	MELANOMA	-	-	-	-	CDH20	uc002lif.2,p.E650K|NM_031891,p.E656K|ENST00000538374,p.E656K|ENST00000536675,p.E656K|ENST00000262717,p.E656K|ENST00000587582,p.E53K|uc010dps.1,p.E656K	protein_coding	uc010dps.1	nonsynonymous SNV	exon11	c.G1966A	p.E656K	RHRKQPYIIDDEENIHENIVRYDDE	RHRKQPYIIDDEKNIHENIVRYDDE	1.0	1.0	unscreened	-	3713_18:59221488-59221488 G>A_RHRKQPYIIDDEKNIHENIVRYDDE
9:8501017-8501017 C>G	0.0	3713	MELANOMA	-	-	-	-	PTPRD	ENST00000356435,p.S622T|ENST00000540109,p.S622T|ENST00000381196,p.S622T|ENST00000358503,p.S609T|uc003zkk.3,p.S622T|ENST00000360074,p.S609T|NM_002839,p.S622T	retained_intron, protein_coding, processed_transcript	uc003zkk.3	nonsynonymous SNV	exon24	c.G1865C	p.S622T	SAPPQDISCTSPSSTSILVSWQPPP	SAPPQDISCTSPTSTSILVSWQPPP	1.0	7.0	unscreened	-	3713_9:8501017-8501017 C>G_SAPPQDISCTSPTSTSILVSWQPPP
7:99227369-99227369 C>T	1.0	3713	MELANOMA	-	-	-	-	ZSCAN25	ENST00000394152,p.T454I|NM_145115,p.T454I|uc003urm.1,p.T290I|ENST00000334715,p.T454I|uc010lge.1,p.T290I|ENST00000262941,p.T382I|uc003url.1,p.T454I|uc003uro.1,p.T238I|uc010lgf.1,p.T382I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lgf.1	nonsynonymous SNV	exon3	c.C1145T	p.T382I	RRQHLQVHRRTHTGEKPYTCECGKS	RRQHLQVHRRTHIGEKPYTCECGKS	6.0	9.0	-	-	3713_7:99227369-99227369 C>T_RRQHLQVHRRTHIGEKPYTCECGKS
1:157485409-157485409 C>T	0.0	3713	MELANOMA	-	-	-	-	FCRL5	NM_001195388,p.G994R|uc009wsm.3,p.G994R	protein_coding, processed_transcript	uc009wsm.3	nonsynonymous SNV	exon17	c.G2980A	p.G994R	CCFSLCTPKFPLGEKQH	CCFSLCTPKFPLREKQH	8.0	9.0	unscreened	-	3713_1:157485409-157485409 C>T_CCFSLCTPKFPLREKQH
16:77326983-77326983 G>A	0.0	3713	MELANOMA	0.0009	-	-	-	ADAMTS18	ENST00000282849,p.S1060L|uc002ffc.4,p.S1060L|NM_199355,p.S1060L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ffc.4	nonsynonymous SNV	exon20	c.C3179T	p.S1060L	CPKNSRLQWVASSWSECSATCGLGV	CPKNSRLQWVASLWSECSATCGLGV	1.0	7.0	unscreened	-	3713_16:77326983-77326983 G>A_CPKNSRLQWVASLWSECSATCGLGV
5:178391739-178391739 G>A	0.0	3713	MELANOMA	-	-	-	-	ZNF454	ENST00000519564,p.E112K|NM_182594,p.E112K|uc021yjc.1,p.E112K|uc010jkz.2,p.E112K|uc003mjo.2,p.E112K|ENST00000320129,p.E112K|NM_001178090,p.E112K|NM_001178089,p.E112K	retained_intron, protein_coding	uc021yjc.1	nonsynonymous SNV	exon5	c.G334A	p.E112K	IPEEELDQWTIKERFSSSSHWKCAS	IPEEELDQWTIKKRFSSSSHWKCAS	1.0	9.0	unscreened	-	3713_5:178391739-178391739 G>A_IPEEELDQWTIKKRFSSSSHWKCAS
16:66945091-66945091 C>T	0.0	3713	MELANOMA	-	-	-	-	CDH16	NM_001204744,p.D640N|ENST00000394055,p.D640N|uc010cdy.3,p.D640N	protein_coding, nonsense_mediated_decay	uc010cdy.3	nonsynonymous SNV	exon14	c.G1918A	p.D640N	PGDTYTVLVEAQDTALTLAPVPSQY	PGDTYTVLVEAQNTALTLAPVPSQY	1.0	4.0	unscreened	-	3713_16:66945091-66945091 C>T_PGDTYTVLVEAQNTALTLAPVPSQY
6:52698962-52698962 G>A	0.0	3713	MELANOMA	-	-	-	-	GSTA5	ENST00000370989,p.R131C|NM_153699,p.R131C|uc003pba.1,p.R131C|ENST00000284562,p.R131C	protein_coding, processed_transcript	uc003pba.1	nonsynonymous SNV	exon5	c.C391T	p.R131C	AKTALVKEKIKNRYFPAFEKVLKSH	AKTALVKEKIKNCYFPAFEKVLKSH	1.0	1.0	unscreened	-	3713_6:52698962-52698962 G>A_AKTALVKEKIKNCYFPAFEKVLKSH
19:54803750-54803750 G>T	0.0	3713	MELANOMA	-	rs149807835	ID=COSM1318254;OCCURENCE=1(large_intestine),3(haematopoietic_and_lymphoid_tissue)	-	LILRA3	ENST00000391745,p.P42H|uc010erk.3,p.P25H|NM_006865,p.P25H|uc002qfd.3,p.P25H|ENST00000251390,p.P25H|NM_001172654,p.P25H|ENST00000391744,p.P25H	protein_coding	uc010erk.3	nonsynonymous SNV	exon3	c.C74A	p.P25H	LSLDPRTHVQAGPLPKPTLWAEPGS	LSLDPRTHVQAGHLPKPTLWAEPGS	1.0	1.0	unscreened	-	3713_19:54803750-54803750 G>T_LSLDPRTHVQAGHLPKPTLWAEPGS
13:109475540-109475540 G>A	0.0	3713	MELANOMA	-	-	-	-	MYO16	NM_001198950,p.M337I|uc001vqt.1,p.M315I|ENST00000357550,p.M315I|uc010agk.2,p.M337I|ENST00000356711,p.M315I|ENST00000251041,p.M315I|NM_015011,p.M315I|uc001vqu.1,p.M115I	protein_coding, processed_transcript	uc010agk.2	nonsynonymous SNV	exon9	c.G1011A	p.M337I	MLLKAEIAWEEKMKEPLSASTLAQE	MLLKAEIAWEEKIKEPLSASTLAQE	1.0	3.0	unscreened	-	3713_13:109475540-109475540 G>A_MLLKAEIAWEEKIKEPLSASTLAQE
19:43680072-43680072 C>T	1.0	3713	MELANOMA	-	-	ID=COSM997583;OCCURENCE=1(endometrium)	-	PSG5	NM_002781,p.R220Q|ENST00000599812,p.R313Q|ENST00000366175,p.R220Q|ENST00000342951,p.R220Q|uc002ovu.3,p.R220Q|NM_001130014,p.R220Q|ENST00000404580,p.R220Q|ENST00000407356,p.R220Q|uc002ovx.3,p.R220Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ovx.3	nonsynonymous SNV	exon3	c.G659A	p.R220Q	TRNETGPYECEIRDRDGGMRSDPVT	TRNETGPYECEIQDRDGGMRSDPVT	1.0	10.0	unscreened	-	3713_19:43680072-43680072 C>T_TRNETGPYECEIQDRDGGMRSDPVT
13:111102127-111102127 G>A	1.0	3713	MELANOMA	-	-	-	-	COL4A2	ENST00000360467,p.G394R|NM_001846,p.G394R|uc001vqx.3,p.G394R	protein_coding, processed_transcript	uc001vqx.3	nonsynonymous SNV	exon19	c.G1180A	p.G394R	DPGLPGPPGLSIGDGDQRRGLPGEM	DPGLPGPPGLSIRDGDQRRGLPGEM	8.0	3.0	unscreened	-	3713_13:111102127-111102127 G>A_DPGLPGPPGLSIRDGDQRRGLPGEM
12:25267667-25267667 C>T	0.0	3713	MELANOMA	-	-	-	-	CASC1	uc010sjf.2,p.E394K|uc001rgk.3,p.E512K|ENST00000537577,p.E394K|NM_001204102,p.E466K|uc010sje.2,p.E447K|ENST00000395990,p.E466K|NM_001082973,p.E506K|NM_001204101,p.E447K|ENST00000395987,p.E512K|ENST00000354189,p.E570K|uc001rgm.4,p.E570K|NM_018272,p.E512K|NM_001082972,p.E570K|ENST00000320267,p.E506K|uc001rgj.3,p.E466K|ENST00000545133,p.E447K|uc001rgl.3,p.E506K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sjf.2	nonsynonymous SNV	exon11	c.G1180A	p.E394K	QDAHINMPYQSWELRPLDVNKVLLT	QDAHINMPYQSWKLRPLDVNKVLLT	1.0	7.0	unscreened	-	3713_12:25267667-25267667 C>T_QDAHINMPYQSWKLRPLDVNKVLLT
1:207643178-207643178 G>A	0.0	3713	MELANOMA	-	-	-	-	CR2	NM_001006658,p.G319E|uc001hfv.3,p.G319E|uc009xch.3,p.G319E|ENST00000367059,p.G319E|ENST00000367057,p.G319E|NM_001877,p.G319E|ENST00000367058,p.G319E|ENST00000458541,p.G319E|uc001hfw.3,p.G319E	protein_coding, processed_transcript	uc009xch.3	nonsynonymous SNV	exon6	c.G956A	p.G319E	PDPEEGVNFILIGESTLRCTVDSQK	PDPEEGVNFILIEESTLRCTVDSQK	1.0	5.0	unscreened	-	3713_1:207643178-207643178 G>A_PDPEEGVNFILIEESTLRCTVDSQK
7:16502522-16502522 C>T	0.0	3713	MELANOMA	-	-	-	-	SOSTDC1	ENST00000396652,p.S115N|uc003stg.3,p.S91N|uc003sth.3,p.S115N|NM_015464,p.S91N|ENST00000307068,p.S91N	protein_coding	uc003sth.3	nonsynonymous SNV	exon5	c.G344A	p.S115N	RSTKYISDGQCTSISPLKELVCAGE	RSTKYISDGQCTNISPLKELVCAGE	1.0	8.0	unscreened	-	3713_7:16502522-16502522 C>T_RSTKYISDGQCTNISPLKELVCAGE
3:27758665-27758665 C>T	0.0	3713	MELANOMA	-	-	-	-	EOMES	uc011axc.2,p.E377K|NM_005442,p.E653K|ENST00000537516,p.E377K|ENST00000295743,p.E653K|ENST00000449599,p.E672K|uc003cdy.4,p.E672K|NM_001278182,p.E672K|NM_001278183,p.E377K|uc003cdx.4,p.E653K	protein_coding, processed_transcript	uc011axc.2	nonsynonymous SNV	exon6	c.G1129A	p.E377K	KRRRLSPSNSSNENSPSIKCEDINA	KRRRLSPSNSSNKNSPSIKCEDINA	6.0	2.0	unscreened	-	3713_3:27758665-27758665 C>T_KRRRLSPSNSSNKNSPSIKCEDINA
15:21051303-21051303 C>T	0.0	3713	MELANOMA	-	-	-	-	POTEB,POTEB2,POTEB3	NM_001277304,p.G386E|NM_001277303,p.G386E|ENST00000454856,p.G386E	protein_coding	NM_001277304	nonsynonymous SNV	exon9	c.G1157A	p.G386E	CDREVEEEIKKHGSNPVGLPENLTN	CDREVEEEIKKHESNPVGLPENLTN	1.0	1.0	unscreened	-	3713_15:21051303-21051303 C>T_CDREVEEEIKKHESNPVGLPENLTN
5:147510892-147510892 C>T	0.0	3713	MELANOMA	-	-	-	-	SPINK5	uc003lox.2,p.P1012L|ENST00000256084,p.P1012L|uc003loy.2,p.P1042L|NM_006846,p.P1012L|ENST00000359874,p.P1042L|NM_001127698,p.P1042L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003loy.2	nonsynonymous SNV	exon32	c.C3125T	p.P1042L	PRIGYLCPKDLKPVCGDDGQTYNNP	PRIGYLCPKDLKLVCGDDGQTYNNP	1.0	8.0	unscreened	-	3713_5:147510892-147510892 C>T_PRIGYLCPKDLKLVCGDDGQTYNNP
17:79515039-79515039 G>A	1.0	3713	MELANOMA	-	-	-	-	C17orf70	uc002kao.1,p.P6S|ENST00000425898,p.P6S	protein_coding, nonsense_mediated_decay	uc002kao.1	nonsynonymous SNV	exon1	c.C16T	p.P6S	MHHPAPAWPRCGWCASHT	MHHPASAWPRCGWCASHT	7.0	3.0	unscreened	-	3713_17:79515039-79515039 G>A_MHHPASAWPRCGWCASHT
1:1158641-1158641 A>C	1.0	3713	MELANOMA	-	-	-	-	SDF4	uc001adh.4,p.L187R|uc001adi.4,p.L187R|NM_016547,p.L187R|NM_016176,p.L187R|ENST00000263741,p.L187R|ENST00000360001,p.L187R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001adi.4	nonsynonymous SNV	exon4	c.T560G	p.L187R	KEVADAIRLNEELKVDEETQEVLEN	KEVADAIRLNEERKVDEETQEVLEN	10.0	4.0	unscreened	-	3713_1:1158641-1158641 A>C_KEVADAIRLNEERKVDEETQEVLEN
11:1267490-1267490 C>T	0.0	3713	MELANOMA	-	-	-	-	MUC5B	NM_002458,p.S3127F|ENST00000529681,p.S3127F|ENST00000447027,p.S3130F|uc001lta.3,p.S3127F	retained_intron, protein_coding, processed_transcript	uc001lta.3	nonsynonymous SNV	exon31	c.C9380T	p.S3127F	TTRATSSMSTPSSTPGTTWILTELT	TTRATSSMSTPSFTPGTTWILTELT	1.0	3.0	unscreened	-	3713_11:1267490-1267490 C>T_TTRATSSMSTPSFTPGTTWILTELT
6:55659203-55659203 C>T	0.0	3713	MELANOMA	-	-	-	2	BMP5	ENST00000370830,p.D236N|uc003pcq.3,p.D236N|uc011dxf.2,p.D236N|ENST00000446683,p.D236N|NM_021073,p.D236N	protein_coding	uc011dxf.2	nonsynonymous SNV	exon3	c.G706A	p.D236N	EYTNRDADLFLLDTRKAQALDVGWL	EYTNRDADLFLLNTRKAQALDVGWL	1.0	1.0	unscreened	-	3713_6:55659203-55659203 C>T_EYTNRDADLFLLNTRKAQALDVGWL
3:36873549-36873549 C>T	0.0	3713	MELANOMA	-	-	-	-	TRANK1	ENST00000301807,p.E1915K|ENST00000428977,p.E1915K|ENST00000429976,p.E2465K|uc003cgj.3,p.E2465K|NM_014831,p.E2465K	protein_coding, processed_transcript	uc003cgj.3	nonsynonymous SNV	exon21	c.G7393A	p.E2465K	DKELGDVFSIIQEYKPKDVTRAIQD	DKELGDVFSIIQKYKPKDVTRAIQD	5.0	3.0	unscreened	-	3713_3:36873549-36873549 C>T_DKELGDVFSIIQKYKPKDVTRAIQD
7:143269861-143269861 A>T	0.0	3713	MELANOMA	-	-	-	-	CTAGE15	uc011kth.3,p.K317N|ENST00000420911,p.K317N|NM_001008747,p.K317N	-	uc011kth.3	nonsynonymous SNV	exon1	c.A951T	p.K317N	ANLDDPLKGALKKLIHAAKLNVSLK	ANLDDPLKGALKNLIHAAKLNVSLK	1.0	1.0	unscreened	-	3713_7:143269861-143269861 A>T_ANLDDPLKGALKNLIHAAKLNVSLK
1:1158641-1158641 A>C	1.0	3713	MELANOMA	-	-	-	-	SDF4	ENST00000465727,p.L187R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000465727	nonsynonymous SNV	exon4	c.T560G	p.L187R	KEVADAIRLNEELKVDEESCAPLST	KEVADAIRLNEERKVDEESCAPLST	10.0	4.0	unscreened	-	3713_1:1158641-1158641 A>C_KEVADAIRLNEERKVDEESCAPLST
16:28353966-28353966 G>A	0.0	3713	MELANOMA	-	-	-	-	NPIPB6	uc010vcr.2,p.H414Y|uc010vcq.2,p.H396Y|ENST00000532254,p.H414Y|ENST00000533640,p.H396Y|NM_001282524,p.H414Y	protein_coding	uc010vcr.2	nonsynonymous SNV	exon7	c.C1240T	p.H414Y	PKRRRLSKLRTRHCTQAWAIRINP	PKRRRLSKLRTRYCTQAWAIRINP	1.0	1.0	unscreened	-	3713_16:28353966-28353966 G>A_PKRRRLSKLRTRYCTQAWAIRINP
16:67328523-67328523 C>T	0.0	3713	MELANOMA	-	-	-	-	KCTD19	uc002esu.2,p.G517E|NM_001100915,p.G517E|uc002est.2,p.G289E|uc010vjj.1,p.G260E|ENST00000304372,p.G517E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vjj.1	nonsynonymous SNV	exon10	c.G779A	p.G260E	AFSIRRLHVVTEGPGSLVEFSRDTK	AFSIRRLHVVTEEPGSLVEFSRDTK	1.0	3.0	unscreened	-	3713_16:67328523-67328523 C>T_AFSIRRLHVVTEEPGSLVEFSRDTK
7:21698624-21698624 C>T	0.0	3713	MELANOMA	-	-	-	-	DNAH11	uc031swp.1,p.A1768V|NM_001277115,p.A1768V|ENST00000328843,p.A1773V|ENST00000409508,p.A1768V	retained_intron, protein_coding, processed_transcript	uc031swp.1	nonsynonymous SNV	exon30	c.C5303T	p.A1768V	IAFSRLEEGYETALKDFHKKQISQL	IAFSRLEEGYETVLKDFHKKQISQL	1.0	2.0	unscreened	-	3713_7:21698624-21698624 C>T_IAFSRLEEGYETVLKDFHKKQISQL
8:110131592-110131592 G>A	0.0	3713	MELANOMA	-	-	-	-	TRHR	ENST00000518632,p.D369N|ENST00000311762,p.D369N|NM_003301,p.D369N|uc003ymz.4,p.D369N	protein_coding	uc003ymz.4	nonsynonymous SNV	exon2	c.G1105A	p.D369N	IKESDHFSTELDDITVTDTYLSATK	IKESDHFSTELDNITVTDTYLSATK	1.0	5.0	unscreened	-	3713_8:110131592-110131592 G>A_IKESDHFSTELDNITVTDTYLSATK
15:89400860-89400860 G>A	0.0	3713	MELANOMA	-	-	-	-	ACAN	ENST00000561243,p.G1682R|ENST00000559004,p.G1682R|uc010upp.1,p.G1682R|NM_001135,p.G1682R|uc010upo.1,p.G1682R|NM_013227,p.G1682R|ENST00000439576,p.G1682R|ENST00000352105,p.G1682R	retained_intron, protein_coding	uc010upp.1	nonsynonymous SNV	exon12	c.G5044A	p.G1682R	VTASTASELEGRGTIGISGAGEISG	VTASTASELEGRRTIGISGAGEISG	2.0	9.0	unscreened	-	3713_15:89400860-89400860 G>A_VTASTASELEGRRTIGISGAGEISG
2:179580465-179580465 C>T	0.0	3713	MELANOMA	-	-	-	-	TTN	NM_001256850,p.R8242K|ENST00000589042,p.R8559K|uc002umz.1,p.R3976K|uc031rqd.1,p.R8242K|NM_133378,p.R7315K|ENST00000591111,p.R8242K|NM_001267550,p.R8559K|uc031rqc.1,p.R8559K|uc021vsy.2,p.R7315K|ENST00000342992,p.R7315K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon87	c.G24725A	p.R8242K	EPPRFIKKLEPSRIVKQDEFTRYEC	EPPRFIKKLEPSKIVKQDEFTRYEC	1.0	10.0	unscreened	-	3713_2:179580465-179580465 C>T_EPPRFIKKLEPSKIVKQDEFTRYEC
6:100369123-100369123 G>A	0.0	3713	MELANOMA	-	-	-	-	MCHR2	ENST00000369212,p.P239L|NM_001040179,p.P239L|NM_032503,p.P239L|ENST00000281806,p.P239L|uc003pqi.1,p.P239L|uc003pqh.1,p.P239L|ENST00000445970,p.P239L	protein_coding	uc003pqi.1	nonsynonymous SNV	exon6	c.C716T	p.P239L	MYQQNKDARCCNPSVPKQRVMKLTK	MYQQNKDARCCNLSVPKQRVMKLTK	1.0	9.0	unscreened	-	3713_6:100369123-100369123 G>A_MYQQNKDARCCNLSVPKQRVMKLTK
2:185800850-185800850 G>A	0.0	3713	MELANOMA	-	-	-	-	ZNF804A	uc002uph.3,p.G243R|NM_194250,p.G243R|ENST00000302277,p.G243R	protein_coding	uc002uph.3	nonsynonymous SNV	exon4	c.G727A	p.G243R	AAFSEYSDDASVGKGFSRKSRFVPS	AAFSEYSDDASVRKGFSRKSRFVPS	1.0	10.0	unscreened	-	3713_2:185800850-185800850 G>A_AAFSEYSDDASVRKGFSRKSRFVPS
16:89017749-89017749 T>G	0.0	3713	MELANOMA	-	-	-	1	LOC100129697	ENST00000378347,p.L408R|NM_001290330,p.L408R	protein_coding	NM_001290330	nonsynonymous SNV	exon2	c.T1223G	p.L408R	VECWHLSSGSPSLPLFVE	VECWHLSSGSPSRPLFVE	1.0	1.0	unscreened	-	3713_16:89017749-89017749 T>G_VECWHLSSGSPSRPLFVE
6:29342358-29342358 G>A	0.0	3713	MELANOMA	-	-	-	-	OR12D3	uc003nme.3,p.A236V|NM_030959,p.A236V|ENST00000396806,p.A236V	protein_coding	uc003nme.3	nonsynonymous SNV	exon1	c.C707T	p.A236V	LFKNRSCRILHKALSTCASHFMVVC	LFKNRSCRILHKVLSTCASHFMVVC	1.0	4.0	unscreened	-	3713_6:29342358-29342358 G>A_LFKNRSCRILHKVLSTCASHFMVVC
4:79428740-79428740 T>G	0.0	3713	MELANOMA	-	-	-	-	FRAS1	ENST00000264895,p.L3161R|NM_025074,p.L3161R|uc003hlc.1,p.L163R|uc003hlb.2,p.L3161R	retained_intron, protein_coding, nonsense_mediated_decay	uc003hlc.1	nonsynonymous SNV	exon3	c.T488G	p.L163R	TVTILDQEAAGSLILPAPPIVVTLA	TVTILDQEAAGSRILPAPPIVVTLA	1.0	6.0	unscreened	-	3713_4:79428740-79428740 T>G_TVTILDQEAAGSRILPAPPIVVTLA
12:10962118-10962118 C>T	0.0	3713	MELANOMA	-	-	-	-	TAS2R9	ENST00000240691,p.G186E|uc001qyx.3,p.G186E|NM_023917,p.G186E	protein_coding	uc001qyx.3	nonsynonymous SNV	exon1	c.G557A	p.G186E	IPGTFKQLTLNLGVMVPFILCLISF	IPGTFKQLTLNLEVMVPFILCLISF	1.0	5.0	unscreened	-	3713_12:10962118-10962118 C>T_IPGTFKQLTLNLEVMVPFILCLISF
3:168812989-168812989 T>C	1.0	3713	MELANOMA	-	-	-	1	MECOM	uc011bpk.1,p.Q777R|ENST00000472280,p.Q778R|ENST00000468789,p.Q777R|NM_005241,p.Q777R|NM_001164000,p.Q768R|uc003ffn.3,p.Q777R|uc003ffj.3,p.Q842R|ENST00000392736,p.Q777R|uc011bpj.1,p.Q965R|uc010hwk.1,p.Q791R|NM_001205194,p.Q777R|ENST00000433243,p.Q778R|uc011bpi.1,p.Q769R|NM_001105078,p.Q777R|uc003ffk.2,p.Q768R|ENST00000264674,p.Q842R|ENST00000494292,p.Q956R|NM_001163999,p.Q769R|NM_004991,p.Q965R|uc003ffi.3,p.Q777R|ENST00000464456,p.Q768R|ENST00000460814,p.Q768R|uc003ffl.2,p.Q928R|NM_001105077,p.Q842R	retained_intron, protein_coding, processed_transcript	uc011bpk.1	nonsynonymous SNV	exon12	c.A2330G	p.Q777R	YCDRSFSISSNLQRHVRNIHNKEKP	YCDRSFSISSNLRRHVRNIHNKEKP	2.0	9.0	-	-	3713_3:168812989-168812989 T>C_YCDRSFSISSNLRRHVRNIHNKEKP
6:83728759-83728759 C>T	1.0	3713	MELANOMA	-	-	-	-	UBE3D	uc003pjp.2,p.D315N|uc003pjq.3,p.D105N|NM_198920,p.D315N|ENST00000369747,p.D315N	protein_coding, processed_transcript, nonsense_mediated_decay	uc003pjq.3	nonsynonymous SNV	exon4	c.G313A	p.D105N	KKFPLLENTFKADSSSAWSAVKVLY	KKFPLLENTFKANSSSAWSAVKVLY	4.0	9.0	unscreened	-	3713_6:83728759-83728759 C>T_KKFPLLENTFKANSSSAWSAVKVLY
4:102117208-102117208 G>A	1.0	3713	MELANOMA	-	-	-	-	PPP3CA	ENST00000512215,p.R42C|ENST00000394853,p.R42C|ENST00000394854,p.R42C|uc010ilj.2,p.R42C|NM_000944,p.R42C|uc010ilk.2,p.R42C|uc003hvt.2,p.R29C|NM_001130692,p.R42C|ENST00000323055,p.R42C|uc003hvu.2,p.R42C|uc011cen.1,p.R42C|NM_001130691,p.R42C	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cen.1	nonsynonymous SNV	exon2	c.C124T	p.R42C	TAKEVFDNDGKPRVDILKAHLMKEG	TAKEVFDNDGKPCVDILKAHLMKEG	6.0	5.0	-	-	3713_4:102117208-102117208 G>A_TAKEVFDNDGKPCVDILKAHLMKEG
15:84904593-84904593 C>T	0.0	3713	MELANOMA	-	-	-	-	GOLGA6L4	uc021stn.2,p.P3S|NM_001267536,p.P3S|ENST00000510439,p.P3S	retained_intron, protein_coding	uc021stn.2	nonsynonymous SNV	exon1	c.C7T	p.P3S	MWPQPRFPPHPAMSE	MWSQPRFPPHPAMSE	4.0	1.0	unscreened	-	3713_15:84904593-84904593 C>T_MWSQPRFPPHPAMSE
16:21211138-21211138 G>A	0.0	3713	MELANOMA	-	-	ID=COSM182954;OCCURENCE=1(large_intestine)	-	ZP2	ENST00000574002,p.H586Y|uc010bwn.1,p.H616Y|ENST00000219593,p.H586Y|NM_003460,p.H586Y|ENST00000574091,p.H577Y|NM_001290104,p.H577Y|uc002dii.2,p.H586Y	retained_intron, protein_coding	uc010bwn.1	nonsynonymous SNV	exon15	c.C1846T	p.H616Y	QTTFHPVGSSVTHPDHYQRFDMKAF	QTTFHPVGSSVTYPDHYQRFDMKAF	1.0	8.0	unscreened	-	3713_16:21211138-21211138 G>A_QTTFHPVGSSVTYPDHYQRFDMKAF
8:133107843-133107843 T>C	0.0	3713	MELANOMA	-	-	-	-	HHLA1	NM_001145095,p.N124S|ENST00000434736,p.N160S|ENST00000414222,p.N124S|uc011liy.1,p.N124S	retained_intron, protein_coding	uc011liy.1	nonsynonymous SNV	exon6	c.A371G	p.N124S	FHKFSVAVYNISNLKTVDPAKFPTR	FHKFSVAVYNISSLKTVDPAKFPTR	1.0	2.0	unscreened	-	3713_8:133107843-133107843 T>C_FHKFSVAVYNISSLKTVDPAKFPTR
12:123465215-123465215 C>T	1.0	3713	MELANOMA	-	-	-	-	ARL6IP4	ENST00000453766,p.P94L|ENST00000315580,p.P94L|uc001uec.3,p.P94L|NM_001002251,p.P155L|uc001uee.3,p.P94L|uc001ued.3,p.P94L|NM_001278378,p.P155L|ENST00000392435,p.P94L|NM_001002252,p.P155L|ENST00000544323,p.P94L|ENST00000543566,p.P94L|uc001uef.3,p.P94L|NM_016638,p.P155L|ENST00000539770,p.P94L|NM_018694,p.P155L|ENST00000542099,p.P94L	retained_intron, protein_coding, nonsense_mediated_decay	uc001uef.3	nonsynonymous SNV	exon1	c.C281T	p.P94L	AALPSRPASRAAPRPEASSPPLPLE	AALPSRPASRAALRPEASSPPLPLE	9.0	6.0	unscreened	-	3713_12:123465215-123465215 C>T_AALPSRPASRAALRPEASSPPLPLE
1:118629326-118629326 C>T	0.0	3713	MELANOMA	-	-	-	-	SPAG17	uc001ehk.2,p.D527N|NM_206996,p.D527N|ENST00000336338,p.D527N	protein_coding, processed_transcript	uc001ehk.2	nonsynonymous SNV	exon12	c.G1579A	p.D527N	AVPKGPLLLNYHDAHAHKKYALQDQ	AVPKGPLLLNYHNAHAHKKYALQDQ	1.0	1.0	unscreened	-	3713_1:118629326-118629326 C>T_AVPKGPLLLNYHNAHAHKKYALQDQ
6:38691236-38691236 G>A	0.0	3713	MELANOMA	-	-	-	-	DNAH8	uc021yzh.1,p.D172N|NM_001206927,p.D172N|ENST00000373278,p.D172N|ENST00000449981,p.D172N|ENST00000327475,p.D160N	protein_coding	uc021yzh.1	nonsynonymous SNV	exon3	c.G514A	p.D172N	GLDIVTVEELILDCPSLEAFTNFFA	GLDIVTVEELILNCPSLEAFTNFFA	1.0	2.0	unscreened	-	3713_6:38691236-38691236 G>A_GLDIVTVEELILNCPSLEAFTNFFA
1:22142438-22142438 C>T	0.0	3713	MELANOMA	-	-	-	-	LDLRAD2	NM_001013693,p.P172S|ENST00000344642,p.P172S|uc001bfg.1,p.P172S|ENST00000543870,p.P172S	protein_coding, processed_transcript	uc001bfg.1	nonsynonymous SNV	exon3	c.C514T	p.P172S	DFVGEVTSFRLGPCGAYFRCQNGRC	DFVGEVTSFRLGSCGAYFRCQNGRC	1.0	3.0	unscreened	-	3713_1:22142438-22142438 C>T_DFVGEVTSFRLGSCGAYFRCQNGRC
7:50136214-50136214 C>T	0.0	3713	MELANOMA	-	-	-	-	C7orf72	uc011kcj.2,p.S178F|ENST00000297001,p.S178F|NM_001161834,p.S178F	protein_coding	uc011kcj.2	nonsynonymous SNV	exon1	c.C533T	p.S178F	NRRWNSREVPDISIRARLGGWTSPL	NRRWNSREVPDIFIRARLGGWTSPL	1.0	2.0	unscreened	-	3713_7:50136214-50136214 C>T_NRRWNSREVPDIFIRARLGGWTSPL
17:71199915-71199915 G>A	1.0	3713	MELANOMA	-	-	-	-	COG1	uc002jjg.3,p.E789K|ENST00000299886,p.E789K|uc002jjh.3,p.E789K|uc002jjf.1,p.E789K|NM_018714,p.E789K	retained_intron, protein_coding, nonsense_mediated_decay	uc002jjh.3	nonsynonymous SNV	exon9	c.G2365A	p.E789K	MVQVVAAYEKLSEEKQIKKEGAFPV	MVQVVAAYEKLSKEKQIKKEGAFPV	9.0	10.0	-	-	3713_17:71199915-71199915 G>A_MVQVVAAYEKLSKEKQIKKEGAFPV
11:56756999-56756999 G>A	0.0	3713	MELANOMA	-	-	-	-	OR5AK2	uc010rjp.2,p.G204E|ENST00000326855,p.G204E|NM_001005323,p.G204E	protein_coding	uc010rjp.2	nonsynonymous SNV	exon1	c.G611A	p.G204E	VDINIMLLVVFVGSNLIFTGLVVIF	VDINIMLLVVFVESNLIFTGLVVIF	1.0	7.0	unscreened	-	3713_11:56756999-56756999 G>A_VDINIMLLVVFVESNLIFTGLVVIF
14:20019764-20019764 G>A	0.0	3713	MELANOMA	-	-	-	-	POTEM	NM_001145442,p.P153S|uc001vwc.3,p.P153S|ENST00000547848,p.P153S|ENST00000547722,p.P153S|ENST00000551509,p.P153S	protein_coding, nonsense_mediated_decay	uc001vwc.3	nonsynonymous SNV	exon1	c.C457T	p.P153S	DKLHRAAWWGKVPRKDLIVMLKDTD	DKLHRAAWWGKVSRKDLIVMLKDTD	1.0	1.0	unscreened	-	3713_14:20019764-20019764 G>A_DKLHRAAWWGKVSRKDLIVMLKDTD
8:77616327-77616327 G>A	1.0	3713	MELANOMA	-	-	-	-	ZFHX4	uc003yaw.1,p.E2K|ENST00000517585,p.E2K|uc003yat.1,p.E2K|ENST00000050961,p.E2K|ENST00000518282,p.E2K|ENST00000520307,p.E2K|ENST00000523809,p.E2K|ENST00000521891,p.E2K|ENST00000455469,p.E2K|uc003yau.2,p.E2K|ENST00000523885,p.E2K|NM_024721,p.E2K	retained_intron, protein_coding, nonsense_mediated_decay	uc003yaw.1	nonsynonymous SNV	exon1	c.G4A	p.E2K	METCDSPPISRQEN	MKTCDSPPISRQEN	1.0	10.0	unscreened	-	3713_8:77616327-77616327 G>A_MKTCDSPPISRQEN
20:1277800-1277800 C>T	0.0	3713	MELANOMA	-	-	-	-	SNPH	ENST00000381873,p.P21L|ENST00000381867,p.P65L|NM_014723,p.P21L|uc002wes.3,p.P21L|uc002wet.3,p.P65L	protein_coding	uc002wet.3	nonsynonymous SNV	exon5	c.C194T	p.P65L	RRTSAGSRRRTSPPVSVRDAYGTSS	RRTSAGSRRRTSLPVSVRDAYGTSS	1.0	1.0	unscreened	-	3713_20:1277800-1277800 C>T_RRTSAGSRRRTSLPVSVRDAYGTSS
19:57175732-57175732 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1234689;OCCURENCE=1(large_intestine)	-	ZNF835	ENST00000537055,p.R279C|NM_001005850,p.R279C|uc010ygn.2,p.R279C|uc031rne.1,p.R279C	protein_coding	uc031rne.1	nonsynonymous SNV	exon1	c.C835T	p.R279C	RHQRIHTEEKPYRCGQCAKAFAQIA	RHQRIHTEEKPYCCGQCAKAFAQIA	1.0	10.0	unscreened	-	3713_19:57175732-57175732 G>A_RHQRIHTEEKPYCCGQCAKAFAQIA
6:33996001-33996001 G>A	0.0	3713	MELANOMA	-	-	-	-	GRM4	ENST00000374177,p.A746V|uc003oiq.4,p.A729V|NM_001256812,p.A693V|NM_001256809,p.A746V|uc010jvi.4,p.A554V|uc031sol.1,p.A554V|NM_001256811,p.A815V|ENST00000455714,p.A722V|ENST00000538487,p.A862V|ENST00000374181,p.A862V|ENST00000544773,p.A693V|uc031som.1,p.A746V|ENST00000535756,p.A729V|NM_000841,p.A862V|NM_001282847,p.A554V|uc011dsl.3,p.A722V|NM_001256813,p.A729V|uc003oio.4,p.A554V|uc010jvh.4,p.A862V|ENST00000545715,p.A554V|uc011dsm.3,p.A693V|uc011dsn.3,p.A815V	protein_coding	uc031som.1	nonsynonymous SNV	exon8	c.C2237T	p.A746V	EQNVPKRKRSLKAVVTAATMSNKFT	EQNVPKRKRSLKVVVTAATMSNKFT	1.0	2.0	unscreened	-	3713_6:33996001-33996001 G>A_EQNVPKRKRSLKVVVTAATMSNKFT
19:22941036-22941036 G>A	0.0	3713	MELANOMA	-	-	-	-	ZNF99	ENST00000596209,p.H559Y|ENST00000397104,p.H468Y|NM_001080409,p.H559Y|uc021urt.1,p.H559Y	protein_coding	uc021urt.1	nonsynonymous SNV	exon4	c.C1675T	p.H559Y	NNSSTLMKHKIIHTGKKPYKCEECG	NNSSTLMKHKIIYTGKKPYKCEECG	1.0	9.0	unscreened	-	3713_19:22941036-22941036 G>A_NNSSTLMKHKIIYTGKKPYKCEECG
3:130285974-130285974 G>A	0.0	3713	MELANOMA	-	-	-	-	COL6A6	ENST00000358511,p.G571R|ENST00000453409,p.G571R|NM_001102608,p.G571R|uc010htl.3,p.G571R	protein_coding, nonsense_mediated_decay	uc010htl.3	nonsynonymous SNV	exon4	c.G1711A	p.G571R	RLREEHIRVYAIGIKEANQTQLREI	RLREEHIRVYAIRIKEANQTQLREI	2.0	2.0	unscreened	-	3713_3:130285974-130285974 G>A_RLREEHIRVYAIRIKEANQTQLREI
1:57340745-57340745 G>A	0.0	3713	MELANOMA	-	-	-	-	C8A	ENST00000361249,p.D99N|NM_000562,p.D99N|uc001cyo.2,p.D99N	protein_coding	uc001cyo.2	nonsynonymous SNV	exon3	c.G295A	p.D99N	STTCVRQAQCGQDFQCKETGRCLKR	STTCVRQAQCGQNFQCKETGRCLKR	1.0	10.0	unscreened	-	3713_1:57340745-57340745 G>A_STTCVRQAQCGQNFQCKETGRCLKR
2:209308198-209308198 C>T	0.0	3713	MELANOMA	-	-	-	-	PTH2R	NM_005048,p.S212F|uc002vdb.4,p.S212F|uc010zjb.2,p.S223F|ENST00000272847,p.S212F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zjb.2	nonsynonymous SNV	exon6	c.C668T	p.S223F	VVHAHIGVKELESLIMQDDPQNSIE	VVHAHIGVKELEFLIMQDDPQNSIE	1.0	4.0	unscreened	-	3713_2:209308198-209308198 C>T_VVHAHIGVKELEFLIMQDDPQNSIE
14:19990556-19990556 C>T	0.0	3713	MELANOMA	-	-	-	-	POTEM	uc001vwc.3,p.E507K|ENST00000551509,p.E507K|NM_001145442,p.E507K	protein_coding, nonsense_mediated_decay	uc001vwc.3	nonsynonymous SNV	exon10	c.G1519A	p.E507K	IHEEKQIEVAENEF	IHEEKQIEVAENKF	1.0	1.0	unscreened	-	3713_14:19990556-19990556 C>T_IHEEKQIEVAENKF
12:129559070-129559070 C>T	0.0	3713	MELANOMA	-	-	-	-	TMEM132D	ENST00000422113,p.D884N|uc001uia.2,p.D422N|NM_133448,p.D884N|ENST00000389441,p.D422N|uc009zyl.1,p.D884N	protein_coding	uc009zyl.1	nonsynonymous SNV	exon9	c.G2650A	p.D884N	LDDNSHLQTIPSDLTSFPAQVDLPR	LDDNSHLQTIPSNLTSFPAQVDLPR	1.0	5.0	unscreened	-	3713_12:129559070-129559070 C>T_LDDNSHLQTIPSNLTSFPAQVDLPR
22:35480395-35480395 G>A	0.0	3713	MELANOMA	-	-	-	2	ISX	ENST00000404699,p.R134Q|uc003anj.3,p.R134Q|ENST00000308700,p.R134Q|NM_001008494,p.R134Q	protein_coding	uc003anj.3	nonsynonymous SNV	exon3	c.G401A	p.R134Q	PEARVQIWFQNQRAKWRKQEKIGNL	PEARVQIWFQNQQAKWRKQEKIGNL	1.0	10.0	unscreened	-	3713_22:35480395-35480395 G>A_PEARVQIWFQNQQAKWRKQEKIGNL
5:11022942-11022942 C>T	0.0	3713	MELANOMA	-	-	-	2	CTNND2	ENST00000503622,p.A643T|NM_001332,p.A980T|uc011cmx.1,p.A572T|ENST00000304623,p.A980T|ENST00000513588,p.A759T|NM_001288716,p.A643T|ENST00000458100,p.A547T|uc003jfa.1,p.A980T|uc011cmy.1,p.A643T|uc011cmz.1,p.A547T|NM_001288717,p.A547T|ENST00000359640,p.A922T|NM_001288715,p.A889T|ENST00000511377,p.A889T|uc010itt.2,p.A889T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cmz.1	nonsynonymous SNV	exon16	c.G1639A	p.A547T	HEVITKNMENAKALRDAGGIEKLVG	HEVITKNMENAKTLRDAGGIEKLVG	1.0	10.0	unscreened	-	3713_5:11022942-11022942 C>T_HEVITKNMENAKTLRDAGGIEKLVG
19:51483543-51483543 C>T	0.0	3713	MELANOMA	-	-	-	-	KLK7	NM_005046,p.G141E|uc002pup.3,p.G141E|uc002puo.3,p.G141E|uc010eok.3,p.G69E|NM_001207053,p.G69E|ENST00000597707,p.G69E|NM_139277,p.G141E|ENST00000391807,p.G141E|ENST00000336317,p.G28E|NM_001243126,p.G134E|ENST00000595820,p.G141E|uc021uyj.1,p.G134E	protein_coding, processed_transcript, nonsense_mediated_decay	uc021uyj.1	nonsynonymous SNV	exon3	c.G401A	p.G134E	KKVRLPSRCEPPGTTCTVSGWGTTT	KKVRLPSRCEPPETTCTVSGWGTTT	1.0	5.0	unscreened	-	3713_19:51483543-51483543 C>T_KKVRLPSRCEPPETTCTVSGWGTTT
20:47989947-47989947 G>A	0.0	3713	MELANOMA	-	-	-	-	KCNB1	NM_004975,p.A717V|ENST00000371741,p.A717V|uc002xus.1,p.A717V|uc002xur.1,p.A717V	protein_coding	uc002xus.1	nonsynonymous SNV	exon3	c.C2150T	p.A717V	VAGLECATLLDKAVLSPESSIYTTA	VAGLECATLLDKVVLSPESSIYTTA	1.0	8.0	unscreened	-	3713_20:47989947-47989947 G>A_VAGLECATLLDKVVLSPESSIYTTA
10:116417745-116417745 C>T	0.0	3713	MELANOMA	-	-	-	-	ABLIM1	NM_002313,p.G72E|uc021pyx.1,p.G72E|ENST00000277895,p.G72E|uc021pyw.1,p.G72E	protein_coding, processed_transcript	uc021pyx.1	nonsynonymous SNV	exon1	c.G215A	p.G72E	LLYLCPKDYCPRGRVCNSVDPFVAH	LLYLCPKDYCPRERVCNSVDPFVAH	5.0	5.0	unscreened	-	3713_10:116417745-116417745 C>T_LLYLCPKDYCPRERVCNSVDPFVAH
7:82579279-82579279 C>T	0.0	3713	MELANOMA	-	-	-	-	PCLO	ENST00000437081,p.R262Q|NM_033026,p.R3542Q|uc003uhv.2,p.R3542Q|NM_014510,p.R3542Q|uc010lec.3,p.R507Q|ENST00000333891,p.R3542Q|ENST00000423517,p.R3542Q|uc003uhx.2,p.R3542Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lec.3	nonsynonymous SNV	exon1	c.G1520A	p.R507Q	PVGTIRTPSIRARVDAKVEIIKHIS	PVGTIRTPSIRAQVDAKVEIIKHIS	2.0	1.0	unscreened	-	3713_7:82579279-82579279 C>T_PVGTIRTPSIRAQVDAKVEIIKHIS
17:46114273-46114273 A>T	0.0	3713	MELANOMA	-	-	-	-	COPZ2	ENST00000006101,p.Y42N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000006101	nonsynonymous SNV	exon3	c.T124A	p.Y42N	EPSGLRLQEPSLYTIKAVFILDNDG	EPSGLRLQEPSLNTIKAVFILDNDG	1.0	3.0	unscreened	-	3713_17:46114273-46114273 A>T_EPSGLRLQEPSLNTIKAVFILDNDG
2:141072527-141072527 C>T	0.0	3713	MELANOMA	-	-	-	1	LRP1B	uc002tvj.1,p.G4261E|ENST00000389484,p.G4261E|NM_018557,p.G4261E	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon83	c.G12782A	p.G4261E	EVNHCSNYCQNGGTCVPSVLGRPTC	EVNHCSNYCQNGETCVPSVLGRPTC	1.0	5.0	unscreened	-	3713_2:141072527-141072527 C>T_EVNHCSNYCQNGETCVPSVLGRPTC
2:179577272-179577272 C>T	0.0	3713	MELANOMA	-	-	-	-	TTN	NM_001267550,p.G9126E|ENST00000591111,p.G8809E|NM_133378,p.G7882E|ENST00000342992,p.G7882E|uc031rqc.1,p.G9126E|ENST00000589042,p.G9126E|uc031rqd.1,p.G8809E|NM_001256850,p.G8809E|uc021vsy.2,p.G7882E|uc002umz.1,p.G4543E	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon93	c.G26426A	p.G8809E	FVKRLNDYSIEKGKPLILEGTFTGT	FVKRLNDYSIEKEKPLILEGTFTGT	1.0	6.0	unscreened	-	3713_2:179577272-179577272 C>T_FVKRLNDYSIEKEKPLILEGTFTGT
3:35730811-35730811 A>T	0.0	3713	MELANOMA	-	-	-	-	ARPP21	uc003cgb.3,p.E140V|NM_001267619,p.E140V|NM_001267617,p.E140V|uc003cga.3,p.E140V|uc011axy.2,p.E140V|ENST00000458225,p.E140V|ENST00000187397,p.E140V|ENST00000444190,p.E140V|NM_016300,p.E140V|ENST00000417925,p.E140V|ENST00000337271,p.E140V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011axy.2	nonsynonymous SNV	exon6	c.A419T	p.E140V	PKIRMLSKDCSQEYTDSTGIDLHEF	PKIRMLSKDCSQVYTDSTGIDLHEF	1.0	3.0	unscreened	-	3713_3:35730811-35730811 A>T_PKIRMLSKDCSQVYTDSTGIDLHEF
10:19613012-19613012 G>A	0.0	3713	MELANOMA	-	-	-	-	MALRD1	NM_001142308,p.G1185E|ENST00000377266,p.G494E|ENST00000454679,p.G481E	protein_coding, processed_transcript	NM_001142308	nonsynonymous SNV	exon22	c.G3554A	p.G1185E	PKCTLVFWTHMNGATVGSLQVLIKK	PKCTLVFWTHMNEATVGSLQVLIKK	1.0	6.0	unscreened	-	3713_10:19613012-19613012 G>A_PKCTLVFWTHMNEATVGSLQVLIKK
6:54001736-54001736 C>T	0.0	3713	MELANOMA	0.0009	-	-	-	MLIP	ENST00000503951,p.S238L|ENST00000514921,p.S279L|NM_001281746,p.S279L|uc011dwz.1,p.S238L|ENST00000502396,p.S290L|uc011dxa.2,p.S290L|NM_001281747,p.S290L|uc003pcf.2,p.S279L	protein_coding, processed_transcript	uc011dxa.2	nonsynonymous SNV	exon4	c.C869T	p.S290L	FQTTAHSTPFSASKGTSSTLLFPHS	FQTTAHSTPFSALKGTSSTLLFPHS	4.0	1.0	unscreened	-	3713_6:54001736-54001736 C>T_FQTTAHSTPFSALKGTSSTLLFPHS
7:117227829-117227829 C>A	0.0	3713	MELANOMA	-	-	ID=COSM1084469;OCCURENCE=1(endometrium)	-	CFTR	ENST00000003084,p.L541I|ENST00000454343,p.L480I|uc003vjd.3,p.L541I|NM_000492,p.L541I|ENST00000426809,p.L511I	protein_coding, processed_transcript, nonsense_mediated_decay	uc003vjd.3	nonsynonymous SNV	exon12	c.C1621A	p.L541I	DISKFAEKDNIVLGEGGITLSGGQR	DISKFAEKDNIVIGEGGITLSGGQR	1.0	8.0	unscreened	-	3713_7:117227829-117227829 C>A_DISKFAEKDNIVIGEGGITLSGGQR
10:96698485-96698485 C>T	0.0	3713	MELANOMA	-	-	-	-	CYP2C9	uc009xut.3,p.L16F|uc001kjz.3,p.L16F|uc001kka.4,p.L16F|NM_000771,p.L16F|ENST00000260682,p.L16F	protein_coding, processed_transcript	uc009xut.3	nonsynonymous SNV	exon1	c.C46T	p.L16F	LVVLVLCLSCLLLLSLWRQSSGRGK	LVVLVLCLSCLLFLSLWRQSSGRGK	1.0	5.0	unscreened	-	3713_10:96698485-96698485 C>T_LVVLVLCLSCLLFLSLWRQSSGRGK
5:35954372-35954372 G>A	0.0	3713	MELANOMA	-	-	-	-	UGT3A1	uc003jjv.2,p.L502F|NM_152404,p.L502F|ENST00000274278,p.L502F	protein_coding, processed_transcript, nonsense_mediated_decay	uc003jjv.2	nonsynonymous SNV	exon7	c.C1504T	p.L502F	VFLLGLTLGTMWLCGKLLGVVARWL	VFLLGLTLGTMWFCGKLLGVVARWL	1.0	3.0	unscreened	-	3713_5:35954372-35954372 G>A_VFLLGLTLGTMWFCGKLLGVVARWL
6:126080418-126080418 A>C	1.0	3713	MELANOMA	-	-	-	-	HEY2	uc011ebr.2,p.T116P|uc003qad.3,p.T162P|ENST00000368365,p.T116P|NM_012259,p.T162P|ENST00000368364,p.T162P	protein_coding	uc011ebr.2	nonsynonymous SNV	exon5	c.A346C	p.T116P	RVRLVSHLSTCATQREAAAMTSSMA	RVRLVSHLSTCAPQREAAAMTSSMA	3.0	10.0	unscreened	-	3713_6:126080418-126080418 A>C_RVRLVSHLSTCAPQREAAAMTSSMA
19:16025578-16025578 G>A	1.0	3713	MELANOMA	-	-	-	-	CYP4F11	uc010eab.1,p.P415S|ENST00000326742,p.P415S	retained_intron, protein_coding	uc010eab.1	nonsynonymous SNV	exon9	c.C1243T	p.P415S	TQDFVLPDGRVIPKGLRPLPFRPRE	TQDFVLPDGRVISKGLRPLPFRPRE	1.0	4.0	unscreened	-	3713_19:16025578-16025578 G>A_TQDFVLPDGRVISKGLRPLPFRPRE
11:114450967-114450967 G>A	0.0	3713	MELANOMA	-	-	-	-	NXPE4	ENST00000375478,p.S329F|uc001ppd.3,p.S45F|ENST00000424261,p.S45F|uc001ppc.3,p.S329F|NM_017678,p.S45F|NM_001077639,p.S329F	protein_coding	uc001ppd.3	nonsynonymous SNV	exon5	c.C134T	p.S45F	SGHVWRNTWNPVSCSLATVKMKECL	SGHVWRNTWNPVFCSLATVKMKECL	1.0	7.0	unscreened	-	3713_11:114450967-114450967 G>A_SGHVWRNTWNPVFCSLATVKMKECL
12:14613764-14613764 C>T	1.0	3713	MELANOMA	-	-	-	-	ATF7IP	NM_181352,p.P840S|NM_018179,p.P832S|NM_001286514,p.P831S|uc001rbv.1,p.P831S|NM_001286515,p.P831S|uc001rbu.3,p.P832S|uc001rbw.3,p.P832S|uc001rbx.3,p.P831S|uc001rby.4,p.P832S|ENST00000536444,p.P831S|uc001rca.3,p.P832S|ENST00000544627,p.P840S|ENST00000261168,p.P832S|ENST00000540793,p.P832S|ENST00000543189,p.P831S	retained_intron, protein_coding, processed_transcript	uc001rca.3	nonsynonymous SNV	exon8	c.C2494T	p.P832S	QSPPTVSGLTKNPVSLPSLPNPTKP	QSPPTVSGLTKNSVSLPSLPNPTKP	6.0	6.0	-	-	3713_12:14613764-14613764 C>T_QSPPTVSGLTKNSVSLPSLPNPTKP
10:106960878-106960878 G>A	0.0	3713	MELANOMA	-	-	-	-	SORCS3	uc001kyi.1,p.G710R|NM_014978,p.G710R|ENST00000369701,p.G710R	protein_coding	uc001kyi.1	nonsynonymous SNV	exon16	c.G2128A	p.G710R	KEDYQTWHLLNQGEPCVMGERKIFK	KEDYQTWHLLNQREPCVMGERKIFK	1.0	9.0	unscreened	-	3713_10:106960878-106960878 G>A_KEDYQTWHLLNQREPCVMGERKIFK
15:75042297-75042297 G>A	0.0	3713	MELANOMA	-	-	-	-	CYP1A2	NM_000761,p.G73E|ENST00000343932,p.G73E|uc002ayr.1,p.G73E	protein_coding	uc002ayr.1	nonsynonymous SNV	exon2	c.G218A	p.G73E	PHLALSRMSQRYGDVLQIRIGSTPV	PHLALSRMSQRYEDVLQIRIGSTPV	1.0	7.0	unscreened	-	3713_15:75042297-75042297 G>A_PHLALSRMSQRYEDVLQIRIGSTPV
9:113170296-113170296 A>-	1.0	3713	MELANOMA	-	-	-	-	SVEP1	ENST00000297826,p.F454fs|uc010mtz.3,p.F2528fs|uc010mty.3,p.F454fs|NM_153366,p.F2528fs|ENST00000401783,p.F2528fs|ENST00000374469,p.F2505fs	protein_coding, processed_transcript	uc010mtz.3	frameshift deletion	exon38	c.7584delT	p.F2528fs	YGQTVTYSCNRGFRLEGPSALTCLE	YGQTVTYSCNRGFGSKVPVP	2.0	10.0	-	-	3713_9:113170296-113170296 A>-_YGQTVTYSCNRGFGSKVPVP
12:97078988-97078988 G>A	0.0	3713	MELANOMA	-	-	-	-	CDK17,NEDD1	ENST00000524981,p.G447R|uc021rcc.1,p.G421R	-	uc021rcc.1	nonsynonymous SNV	exon9	c.G1261A	p.G421R	FLSRVGIWGCLQGAVISAKIAQFIK	FLSRVGIWGCLQRAVISAKIAQFIK	1.0	4.0	unscreened	-	3713_12:97078988-97078988 G>A_FLSRVGIWGCLQRAVISAKIAQFIK
Y:23545437-23545437 C>T	0.0	3713	MELANOMA	-	-	-	-	PRORY	ENST00000382764,p.R112Q|NM_001282471,p.R112Q	protein_coding	NM_001282471	nonsynonymous SNV	exon3	c.G335A	p.R112Q	RTSPRPPPGPLPRYRPQQHLLLPLG	RTSPRPPPGPLPQYRPQQHLLLPLG	1.0	10.0	unscreened	-	3713_Y:23545437-23545437 C>T_RTSPRPPPGPLPQYRPQQHLLLPLG
5:121786523-121786523 G>A	0.0	3713	MELANOMA	-	-	ID=COSM225216,COSM225215;OCCURENCE=1(NS)	-	SNCAIP	uc003ksx.1,p.E708K|uc011cwm.1,p.E295K|uc003ksw.1,p.E661K|uc010jcw.1,p.E355K|ENST00000261368,p.E661K|ENST00000509154,p.E601K|uc011cwl.1,p.E219K|ENST00000379536,p.E601K|ENST00000542191,p.E219K|NM_001242935,p.E295K|uc003ksy.1,p.E295K|ENST00000379538,p.E295K|uc010jcu.2,p.E257K|uc003ksz.1,p.E295K|ENST00000414317,p.E263K|uc010jcx.1,p.E601K|ENST00000379533,p.E708K|uc003ktc.1,p.E177K|NM_005460,p.E661K|ENST00000261367,p.E708K|uc003kta.1,p.E293K	retained_intron, protein_coding, nonsense_mediated_decay	uc011cwm.1	nonsynonymous SNV	exon8	c.G883A	p.E295K	SRNSKKIPLEKRELKLARLRQLMQR	SRNSKKIPLEKRKLKLARLRQLMQR	1.0	10.0	unscreened	-	3713_5:121786523-121786523 G>A_SRNSKKIPLEKRKLKLARLRQLMQR
11:62369868-62369868 G>T	1.0	3713	MELANOMA	-	-	-	-	EML3	ENST00000494176,p.T859N|uc001ntr.1,p.T859N|uc010rly.1,p.T887N|NM_001300793,p.T888N|NM_001300794,p.T887N|ENST00000529309,p.T887N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rly.1	nonsynonymous SNV	exon22	c.C2660A	p.T887N	APPCPSLAQSPTTRGRLFPGLTSRH	APPCPSLAQSPTNRGRLFPGLTSRH	8.0	7.0	-	-	3713_11:62369868-62369868 G>T_APPCPSLAQSPTNRGRLFPGLTSRH
1:21071567-21071567 G>A	1.0	3713	MELANOMA	-	-	-	-	HP1BP3	uc001bdv.1,p.P424L|uc010odh.1,p.P424L|uc010odf.1,p.P121L|uc010odg.1,p.P310L|uc001bdy.1,p.P462L|uc001bdw.1,p.P462L|ENST00000312239,p.P462L|ENST00000375003,p.P310L|NM_016287,p.P462L	protein_coding, processed_transcript	uc010odh.1	nonsynonymous SNV	exon12	c.C1271T	p.P424L	EPPPKRRLQKKTPAKSPGKAASVKQ	EPPPKRRLQKKTLAKSPGKAASVKQ	10.0	6.0	-	-	3713_1:21071567-21071567 G>A_EPPPKRRLQKKTLAKSPGKAASVKQ
1:152195654-152195654 C>T	1.0	3713	MELANOMA	-	-	-	-	HRNR	uc001ezt.2,p.D26N|ENST00000368801,p.D26N|NM_001009931,p.D26N	protein_coding	uc001ezt.2	nonsynonymous SNV	exon2	c.G76A	p.D26N	VFYQYATQHGEYDTLNKAELKELLE	VFYQYATQHGEYNTLNKAELKELLE	1.0	7.0	unscreened	-	3713_1:152195654-152195654 C>T_VFYQYATQHGEYNTLNKAELKELLE
5:158250198-158250198 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1728657;OCCURENCE=1(liver)	1	EBF1	uc011ddx.3,p.S241F|NM_001290360,p.S255F|uc011ddw.2,p.S122F	retained_intron, protein_coding, processed_transcript	uc011ddx.3	nonsynonymous SNV	exon8	c.C722T	p.S241F	RARRLDPSEGTPSYLEHAATPCIKA	RARRLDPSEGTPFYLEHAATPCIKA	2.0	4.0	unscreened	-	3713_5:158250198-158250198 G>A_RARRLDPSEGTPFYLEHAATPCIKA
10:49997929-49997929 C>T	0.0	3713	MELANOMA	-	-	-	-	WDFY4	ENST00000325239,p.S1322L|NM_020945,p.S1322L|uc001jha.4,p.S1322L	protein_coding, processed_transcript	uc001jha.4	nonsynonymous SNV	exon22	c.C3965T	p.S1322L	VDSRLIAKEMNISSRDNAMPVFLLR	VDSRLIAKEMNILSRDNAMPVFLLR	3.0	6.0	unscreened	-	3713_10:49997929-49997929 C>T_VDSRLIAKEMNILSRDNAMPVFLLR
14:79454484-79454484 C>T	0.0	3713	MELANOMA	-	-	-	-	NRXN3	ENST00000335750,p.P715S|uc001xun.4,p.P715S|NM_004796,p.P715S|ENST00000554738,p.P1077S|ENST00000554719,p.P715S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xun.4	nonsynonymous SNV	exon12	c.C2143T	p.P715S	SMTSYSGNQCNDPGATYIFGKSGGL	SMTSYSGNQCNDSGATYIFGKSGGL	1.0	3.0	unscreened	-	3713_14:79454484-79454484 C>T_SMTSYSGNQCNDSGATYIFGKSGGL
6:85472439-85472439 C>T	0.0	3713	MELANOMA	-	-	-	-	TBX18	uc003pkl.2,p.G107E|ENST00000369663,p.G107E|NM_001080508,p.G107E	protein_coding	uc003pkl.2	nonsynonymous SNV	exon2	c.G320A	p.G107E	GAAGGCEDGFQQGASPLASPGGSPK	GAAGGCEDGFQQEASPLASPGGSPK	1.0	1.0	unscreened	-	3713_6:85472439-85472439 C>T_GAAGGCEDGFQQEASPLASPGGSPK
X:65824325-65824325 C>T	0.0	3713	MELANOMA	-	-	-	-	EDA2R	NM_021783,p.G97E|ENST00000450752,p.G97E|uc004dwq.3,p.G97E|NM_001242310,p.G97E|uc004dwr.3,p.G97E|NM_001199687,p.G97E|uc004dws.3,p.G97E|uc022byh.1,p.G97E|ENST00000253392,p.G97E|uc004dwt.2,p.G97E|ENST00000456230,p.G97E|ENST00000374719,p.G97E|ENST00000396050,p.G97E	protein_coding	uc022byh.1	nonsynonymous SNV	exon3	c.G290A	p.G97E	DCLPRFYRKTRIGGLQDQECIPCTK	DCLPRFYRKTRIEGLQDQECIPCTK	1.0	10.0	unscreened	-	3713_X:65824325-65824325 C>T_DCLPRFYRKTRIEGLQDQECIPCTK
14:23874334-23874334 G>A	0.0	3713	MELANOMA	-	-	-	-	MYH6	uc001wjv.3,p.R169W|ENST00000405093,p.R169W|NM_002471,p.R169W|uc010akp.2,p.R169W|ENST00000356287,p.R169W	retained_intron, protein_coding	uc010akp.2	nonsynonymous SNV	exon6	c.C505T	p.R169W	ISDNAYQYMLTDRENQSILITGESG	ISDNAYQYMLTDWENQSILITGESG	1.0	6.0	unscreened	-	3713_14:23874334-23874334 G>A_ISDNAYQYMLTDWENQSILITGESG
10:115370316-115370316 A>T	0.0	3713	MELANOMA	-	-	-	-	NRAP	uc001laj.4,p.Y1169N|NM_198060,p.Y1169N|NM_006175,p.Y1134N|uc001lal.4,p.Y1169N|ENST00000369360,p.Y1142N|ENST00000359988,p.Y1169N|uc001lak.4,p.Y1134N|ENST00000360478,p.Y1134N|ENST00000369358,p.Y1177N|NM_001261463,p.Y1169N	protein_coding	uc001lal.4	nonsynonymous SNV	exon31	c.T3505A	p.Y1169N	AKKAHKLQSENLYRSDLNFMRGVAC	AKKAHKLQSENLNRSDLNFMRGVAC	1.0	9.0	unscreened	-	3713_10:115370316-115370316 A>T_AKKAHKLQSENLNRSDLNFMRGVAC
8:41566480-41566480 G>A	0.0	3713	MELANOMA	-	-	-	2	ANK1	ENST00000396945,p.P605L|ENST00000396942,p.P605L|NM_000037,p.P605L|ENST00000289734,p.P605L|uc003xoi.3,p.P605L|ENST00000379758,p.P605L|ENST00000347528,p.P605L|ENST00000265709,p.P638L|ENST00000352337,p.P605L|NM_020475,p.P605L|uc003xol.3,p.P605L|NM_001142446,p.P638L|NM_020476,p.P605L|uc003xom.3,p.P638L|uc003xoj.3,p.P605L|NM_020477,p.P605L|uc003xok.3,p.P605L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xom.3	nonsynonymous SNV	exon17	c.C1913T	p.P638L	GSPHSPAWNGYTPLHIAAKQNQVEV	GSPHSPAWNGYTLLHIAAKQNQVEV	1.0	2.0	unscreened	-	3713_8:41566480-41566480 G>A_GSPHSPAWNGYTLLHIAAKQNQVEV
2:219227558-219227558 G>A	0.0	3713	MELANOMA	0.0005	-	-	-	CATIP	ENST00000289388,p.R188Q|uc002vhr.3,p.R188Q|NM_198559,p.R188Q	retained_intron, protein_coding, processed_transcript	uc002vhr.3	nonsynonymous SNV	exon6	c.G563A	p.R188Q	ANLVLLRVMAWRRMVPSNARFLTLD	ANLVLLRVMAWRQMVPSNARFLTLD	1.0	5.0	unscreened	-	3713_2:219227558-219227558 G>A_ANLVLLRVMAWRQMVPSNARFLTLD
4:185940991-185940991 G>A	0.0	3713	MELANOMA	-	-	-	-	HELT	uc011cko.2,p.E75K|NM_001300781,p.E75K|uc011ckq.2,p.E160K|ENST00000338875,p.E160K|ENST00000515777,p.E75K	retained_intron, protein_coding	uc011ckq.2	nonsynonymous SNV	exon3	c.G478A	p.E160K	RALHSADFPRGREKAELLAEFANYF	RALHSADFPRGRKKAELLAEFANYF	1.0	9.0	unscreened	-	3713_4:185940991-185940991 G>A_RALHSADFPRGRKKAELLAEFANYF
9:14841531-14841531 G>A	0.0	3713	MELANOMA	-	-	-	-	FREM1	ENST00000380881,p.R600C|NM_144966,p.R599C|ENST00000380875,p.R599C|ENST00000380880,p.R599C|uc003zlm.3,p.R599C|ENST00000422223,p.R599C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zlm.3	nonsynonymous SNV	exon11	c.C1795T	p.R599C	LQRDLFNGIIYYRHFGGEIFEDSFQ	LQRDLFNGIIYYCHFGGEIFEDSFQ	3.0	7.0	unscreened	-	3713_9:14841531-14841531 G>A_LQRDLFNGIIYYCHFGGEIFEDSFQ
17:39925404-39925404 G>A	1.0	3713	MELANOMA	-	-	-	-	JUP	ENST00000393931,p.S175L|ENST00000420370,p.S175L|uc002hxr.2,p.S175L|uc002hxq.2,p.S175L|NM_002230,p.S175L|uc010wfs.2,p.S175L|ENST00000540235,p.S175L|ENST00000424457,p.S175L|uc002hxs.2,p.S175L|ENST00000437187,p.S175L|ENST00000393930,p.S175L|ENST00000310706,p.S175L|NM_021991,p.S175L|ENST00000449889,p.S175L	retained_intron, protein_coding	uc010wfs.2	nonsynonymous SNV	exon3	c.C524T	p.S175L	AMIVNQLSKKEASRRALMGSPQLVA	AMIVNQLSKKEALRRALMGSPQLVA	3.0	3.0	-	-	3713_17:39925404-39925404 G>A_AMIVNQLSKKEALRRALMGSPQLVA
9:125154586-125154586 G>A	0.0	3713	MELANOMA	-	-	-	-	PTGS1	ENST00000540753,p.M459I|NM_001271164,p.M473I|uc011lyt.2,p.M412I|uc031tey.1,p.M473I|uc010mwb.2,p.M375I|uc004bmg.2,p.M521I|NM_001271166,p.M375I|uc004bmh.2,p.M412I|ENST00000362012,p.M521I|NM_000962,p.M521I|NM_080591,p.M484I|ENST00000373698,p.M412I|uc004bmf.2,p.M484I|ENST00000223423,p.M484I|NM_001271367,p.M375I|uc011lys.2,p.M459I|NM_001271165,p.M412I|NM_001271368,p.M459I|uc031tez.1,p.M375I	protein_coding	uc031tez.1	nonsynonymous SNV	exon11	c.G1125A	p.M375I	EKCHPNSIFGESMIEIGAPFSLKGL	EKCHPNSIFGESIIEIGAPFSLKGL	4.0	4.0	unscreened	-	3713_9:125154586-125154586 G>A_EKCHPNSIFGESIIEIGAPFSLKGL
4:109675807-109675807 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1694802;OCCURENCE=1(skin)	-	ETNPPL	ENST00000296486,p.G157E|NM_031279,p.G157E|uc003hzc.3,p.G157E|ENST00000512646,p.G99E|ENST00000510706,p.G117E|uc010imc.3,p.G151E|NM_001146590,p.G151E|uc011cfo.2,p.G99E|ENST00000411864,p.G151E|NM_001146627,p.G99E|uc011cfm.2,p.G117E|uc011cfn.2,p.G84E	retained_intron, protein_coding, nonsense_mediated_decay	uc011cfo.2	nonsynonymous SNV	exon4	c.G296A	p.G99E	SLIEISPYKFQKGKDVKKEFVHVAP	SLIEISPYKFQKEKDVKKEFVHVAP	1.0	9.0	unscreened	-	3713_4:109675807-109675807 C>T_SLIEISPYKFQKEKDVKKEFVHVAP
1:240494023-240494023 C>T	0.0	3713	MELANOMA	-	-	-	-	FMN2	uc010pye.2,p.P1524S|uc010pyg.2,p.P116S|uc010pyf.1,p.P166S|ENST00000319653,p.P1520S|ENST00000545751,p.P116S|uc010pyd.2,p.P1520S|NM_020066,p.P1520S	protein_coding, processed_transcript	uc010pyg.2	nonsynonymous SNV	exon4	c.C346T	p.P116S	RGQADGFGLDILPKLKDVKSSDNSR	RGQADGFGLDILSKLKDVKSSDNSR	1.0	1.0	unscreened	-	3713_1:240494023-240494023 C>T_RGQADGFGLDILSKLKDVKSSDNSR
3:108705748-108705748 C>T	0.0	3713	MELANOMA	-	-	-	-	MORC1	NM_014429,p.E746K|uc003dxl.3,p.E746K|uc011bhn.2,p.E725K|ENST00000232603,p.E746K|ENST00000483760,p.E725K	protein_coding	uc011bhn.2	nonsynonymous SNV	exon21	c.G2173A	p.E725K	SNTDVSLKQEKKEIPLLNQEKQELC	SNTDVSLKQEKKKIPLLNQEKQELC	1.0	10.0	unscreened	-	3713_3:108705748-108705748 C>T_SNTDVSLKQEKKKIPLLNQEKQELC
11:75319213-75319213 C>T	0.0	3713	MELANOMA	-	-	-	-	MAP6	NM_033063,p.V354I|ENST00000434603,p.V354I|ENST00000304771,p.V354I|ENST00000526740,p.V25I|NM_207577,p.V354I|uc001owv.3,p.V354I|uc001owu.3,p.V354I	protein_coding, processed_transcript	uc001owv.3	nonsynonymous SNV	exon2	c.G1060A	p.V354I	GEASKPTTADNKVIDRRRIRSLYSE	GEASKPTTADNKIIDRRRIRSLYSE	1.0	10.0	unscreened	-	3713_11:75319213-75319213 C>T_GEASKPTTADNKIIDRRRIRSLYSE
5:174936051-174936051 C>T	1.0	3713	MELANOMA	-	-	-	-	SFXN1	NM_022754,p.P61S|uc003mda.2,p.P61S|ENST00000507017,p.P61S|ENST00000506963,p.P61S|ENST00000502393,p.P61S|ENST00000321442,p.P61S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003mda.2	nonsynonymous SNV	exon3	c.C181T	p.P61S	KIVHDYRQGIVPPGLTENELWRAKY	KIVHDYRQGIVPSGLTENELWRAKY	8.0	2.0	unscreened	-	3713_5:174936051-174936051 C>T_KIVHDYRQGIVPSGLTENELWRAKY
13:97484898-97484898 G>A	0.0	3713	MELANOMA	-	-	-	-	HS6ST3	ENST00000376705,p.D288N|NM_153456,p.D288N|uc001vmw.4,p.D288N	protein_coding	uc001vmw.4	nonsynonymous SNV	exon2	c.G862A	p.D288N	PTPDELPTCYPGDDWSGVSLREFMD	PTPDELPTCYPGNDWSGVSLREFMD	1.0	9.0	unscreened	-	3713_13:97484898-97484898 G>A_PTPDELPTCYPGNDWSGVSLREFMD
3:120973939-120973939 G>A	0.0	3713	MELANOMA	-	-	-	-	STXBP5L	uc003eec.4,p.E547K|ENST00000497029,p.E547K|uc011bji.2,p.E547K|ENST00000273666,p.E547K|ENST00000471262,p.E547K|NM_014980,p.E547K|ENST00000472879,p.E547K|ENST00000492541,p.E547K|ENST00000471454,p.E547K	protein_coding, nonsense_mediated_decay	uc011bji.2	nonsynonymous SNV	exon16	c.G1639A	p.E547K	SAYVIIYKFSRHEITTEIVSLEVRL	SAYVIIYKFSRHKITTEIVSLEVRL	1.0	8.0	unscreened	-	3713_3:120973939-120973939 G>A_SAYVIIYKFSRHKITTEIVSLEVRL
2:152388364-152388364 G>A	0.0	3713	MELANOMA	-	-	-	-	NEB	uc021vrd.1,p.S5454L|ENST00000413693,p.S1885L|ENST00000427231,p.S7155L|ENST00000603639,p.S7155L|ENST00000172853,p.S5454L|ENST00000604864,p.S7155L|ENST00000397345,p.S7155L|uc002txr.3,p.S1920L|uc021vrc.1,p.S7155L|uc002txu.3,p.S7155L|NM_001271208,p.S7190L|uc031rpp.1,p.S7190L|ENST00000409198,p.S5454L|uc021vrb.1,p.S5454L|NM_001164507,p.S7155L|NM_001164508,p.S7155L	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon145	c.C21569T	p.S7190L	RKNYEKSKDKFTSIVDTPEHLRTTK	RKNYEKSKDKFTLIVDTPEHLRTTK	2.0	4.0	unscreened	-	3713_2:152388364-152388364 G>A_RKNYEKSKDKFTLIVDTPEHLRTTK
11:6806546-6806546 C>T	0.0	3713	MELANOMA	-	-	ID=COSM222198;OCCURENCE=1(skin)	-	OR2AG1	uc001mer.2,p.S93F|NM_001004489,p.S93F|ENST00000307401,p.S93F	protein_coding	uc001mer.2	nonsynonymous SNV	exon1	c.C278T	p.S93F	ALADFLRRENTISFGGCALQMFLAL	ALADFLRRENTIFFGGCALQMFLAL	1.0	7.0	unscreened	-	3713_11:6806546-6806546 C>T_ALADFLRRENTIFFGGCALQMFLAL
11:6891574-6891574 C>T	0.0	3713	MELANOMA	-	-	-	-	OR10A2	uc001meu.1,p.P197S|NM_001004460,p.P197S|ENST00000307322,p.P197S	protein_coding	uc001meu.1	nonsynonymous SNV	exon1	c.C589T	p.P197S	YAIVGTILVVMIPCLLILCSYTHIA	YAIVGTILVVMISCLLILCSYTHIA	1.0	7.0	unscreened	-	3713_11:6891574-6891574 C>T_YAIVGTILVVMISCLLILCSYTHIA
2:55106777-55106792 GGTAAGAAGCTGCCGG>-	0.0	3713	MELANOMA	-	-	-	-	EML6	NM_001039753,p.R813fs|uc002ryb.4,p.R813fs|ENST00000356458,p.R813fs	retained_intron, protein_coding, processed_transcript	uc002ryb.4	frameshift deletion	exon16	c.2438_2438del	p.R813fs	WDWKKGEKIATTRGHKDKIFVVKCN	WDWKKGEKIATTKDIKIRYLW	1.0	5.0	unscreened	-	3713_2:55106777-55106792 GGTAAGAAGCTGCCGG>-_WDWKKGEKIATTKDIKIRYLW
19:9083191-9083191 G>A	0.0	3713	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.S2875L|NM_024690,p.S2875L|ENST00000397910,p.S2875L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.C8624T	p.S2875L	VSASSSPSKAFASLTTAPPTWGIPQ	VSASSSPSKAFALLTTAPPTWGIPQ	1.0	4.0	unscreened	-	3713_19:9083191-9083191 G>A_VSASSSPSKAFALLTTAPPTWGIPQ
8:88298767-88298767 G>A	0.0	3713	MELANOMA	-	-	-	2	CNBD1	ENST00000518476,p.E304K|uc003ydy.2,p.E304K|NM_173538,p.E304K	retained_intron, protein_coding, processed_transcript	uc003ydy.2	nonsynonymous SNV	exon8	c.G910A	p.E304K	KIPAKGYAKIKEEKIKLENMQKLKL	KIPAKGYAKIKEKKIKLENMQKLKL	1.0	10.0	unscreened	-	3713_8:88298767-88298767 G>A_KIPAKGYAKIKEKKIKLENMQKLKL
10:124339292-124339292 C>T	0.0	3713	MELANOMA	-	-	-	-	DMBT1	uc009xzz.1,p.S293L|NM_004406,p.S293L|ENST00000338354,p.S293L|uc021qag.1,p.S293L|NM_017579,p.S293L|uc001lgl.1,p.S293L|uc021qah.1,p.S293L|ENST00000368955,p.S293L|NM_007329,p.S293L|ENST00000368909,p.S293L|ENST00000344338,p.S293L|uc021qaf.1,p.S293L|uc001lgm.1,p.S293L|ENST00000330163,p.S293L|ENST00000368956,p.S293L|uc001lgk.1,p.S293L|uc009yaa.1,p.S145L	protein_coding	uc021qah.1	nonsynonymous SNV	exon10	c.C878T	p.S293L	MSAPGNAQFGQGSGPIVLDDVRCSG	MSAPGNAQFGQGLGPIVLDDVRCSG	1.0	7.0	unscreened	-	3713_10:124339292-124339292 C>T_MSAPGNAQFGQGLGPIVLDDVRCSG
13:29041745-29041745 G>A	0.0	3713	MELANOMA	-	-	-	-	FLT1	uc010tdp.1,p.S25L|uc001usc.3,p.S25L|NM_001160031,p.S25L|ENST00000539099,p.S25L|ENST00000541932,p.S25L|uc001usb.3,p.S25L|NM_001160030,p.S25L|NM_001159920,p.S25L|ENST00000282397,p.S25L|NM_002019,p.S25L|uc010aar.1,p.S25L|uc001usd.3,p.S25L	protein_coding	uc010tdp.1	nonsynonymous SNV	exon2	c.C74T	p.S25L	ALLSCLLLTGSSSGSKLKDPELSLK	ALLSCLLLTGSSLGSKLKDPELSLK	5.0	5.0	unscreened	-	3713_13:29041745-29041745 G>A_ALLSCLLLTGSSLGSKLKDPELSLK
1:181680128-181680128 G>A	0.0	3713	MELANOMA	-	-	-	-	CACNA1E	ENST00000367570,p.R365K|uc009wxt.3,p.R365K|NM_000721,p.R365K|ENST00000360108,p.R365K|ENST00000357570,p.R316K|uc009wxs.3,p.R365K|ENST00000526775,p.R365K|NM_001205293,p.R365K|ENST00000367573,p.R365K|NM_001205294,p.R365K|ENST00000524607,p.R365K|uc001gow.3,p.R365K|ENST00000358338,p.R316K	retained_intron, protein_coding	uc009wxt.3	nonsynonymous SNV	exon8	c.G1094A	p.R365K	EFAKERERVENRRAFMKLRRQQQIE	EFAKERERVENRKAFMKLRRQQQIE	1.0	8.0	unscreened	-	3713_1:181680128-181680128 G>A_EFAKERERVENRKAFMKLRRQQQIE
19:45895344-45895344 G>A	1.0	3713	MELANOMA	-	-	-	-	PPP1R13L	uc002pbo.3,p.P537S|ENST00000418234,p.P537S|NM_006663,p.P537S|NM_001142502,p.P537S|uc002pbm.3,p.P116S|uc002pbn.3,p.P537S|ENST00000360957,p.P537S	retained_intron, protein_coding	uc002pbo.3	nonsynonymous SNV	exon8	c.C1609T	p.P537S	GSMEQAPAVALPPTHKKQYQQIISR	GSMEQAPAVALPSTHKKQYQQIISR	5.0	9.0	unscreened	-	3713_19:45895344-45895344 G>A_GSMEQAPAVALPSTHKKQYQQIISR
3:3081785-3081785 G>A	0.0	3713	MELANOMA	-	-	-	-	CNTN4	uc003bpe.3,p.G415D|ENST00000397461,p.G743D|NM_001206956,p.G414D|uc021wsg.1,p.G743D|NM_175607,p.G743D|uc003bpb.1,p.G414D|ENST00000418658,p.G743D|ENST00000427331,p.G743D|NM_001206955,p.G743D|uc003bpc.3,p.G743D|ENST00000397459,p.G415D|ENST00000358480,p.G524D|ENST00000448906,p.G415D|NM_175613,p.G415D|uc003bpf.3,p.G414D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wsg.1	nonsynonymous SNV	exon19	c.G2228A	p.G743D	RGFGYVVAFRPYGKMIWMLTVLASA	RGFGYVVAFRPYDKMIWMLTVLASA	1.0	2.0	unscreened	-	3713_3:3081785-3081785 G>A_RGFGYVVAFRPYDKMIWMLTVLASA
8:69243450-69243450 G>A	0.0	3713	MELANOMA	-	-	-	-	C8orf34	uc010lyx.2,p.G68E|NM_001195639,p.G68E|uc010lyz.3,p.G68E|ENST00000518698,p.G68E|uc010lyy.2,p.G68E|NM_052958,p.G68E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lyz.3	nonsynonymous SNV	exon1	c.G203A	p.G68E	GPSPGKRRVVPSGGAQPRVLPALSS	GPSPGKRRVVPSEGAQPRVLPALSS	1.0	8.0	unscreened	-	3713_8:69243450-69243450 G>A_GPSPGKRRVVPSEGAQPRVLPALSS
3:36897417-36897417 C>T	1.0	3713	MELANOMA	-	-	ID=COSM228351,COSM228353,COSM228352;OCCURENCE=1(skin)	-	TRANK1	NM_014831,p.E1222K|ENST00000301807,p.E672K|uc003cgj.3,p.E1222K|ENST00000429976,p.E1222K|ENST00000428977,p.E672K	protein_coding, processed_transcript	uc003cgj.3	nonsynonymous SNV	exon12	c.G3664A	p.E1222K	DASLPKPFFLRNEDGSLKRTIIGWS	DASLPKPFFLRNKDGSLKRTIIGWS	5.0	9.0	unscreened	-	3713_3:36897417-36897417 C>T_DASLPKPFFLRNKDGSLKRTIIGWS
14:99641683-99641683 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1516507;OCCURENCE=1(lung)	1	BCL11B	NM_001282237,p.S496F|uc031qqi.1,p.S425F|NM_138576,p.S497F|ENST00000357195,p.S497F|uc031qqh.1,p.S496F|ENST00000345514,p.S426F|NM_001282238,p.S425F|ENST00000443726,p.S303F|uc001yga.3,p.S497F|NM_022898,p.S426F|uc001ygb.3,p.S426F	protein_coding	uc031qqi.1	nonsynonymous SNV	exon3	c.C1274T	p.S425F	AGRSDDGLSAASSPEPGTSELAGEG	AGRSDDGLSAASFPEPGTSELAGEG	3.0	2.0	unscreened	-	3713_14:99641683-99641683 G>A_AGRSDDGLSAASFPEPGTSELAGEG
5:140723728-140723728 C>T	0.0	3713	MELANOMA	-	-	-	-	PCDHGA3	ENST00000253812,p.S43F|NM_018916,p.S43F|NM_032011,p.S43F|uc003ljm.2,p.S43F|uc011dap.2,p.S43F	protein_coding	uc011dap.2	nonsynonymous SNV	exon1	c.C128T	p.S43F	IRYSVSEELDKGSFVGNIANDLGLE	IRYSVSEELDKGFFVGNIANDLGLE	3.0	9.0	-	-	3713_5:140723728-140723728 C>T_IRYSVSEELDKGFFVGNIANDLGLE
19:40402267-40402267 C>T	0.0	3713	MELANOMA	-	-	-	-	FCGBP	ENST00000221347,p.G1711D|uc002omp.4,p.G1711D|NM_003890,p.G1711D	protein_coding, processed_transcript	uc002omp.4	nonsynonymous SNV	exon11	c.G5132A	p.G1711D	LATTGCPGVSTQGLTPFTVTTKNQN	LATTGCPGVSTQDLTPFTVTTKNQN	2.0	2.0	unscreened	-	3713_19:40402267-40402267 C>T_LATTGCPGVSTQDLTPFTVTTKNQN
1:40230474-40230474 G>A	0.0	3713	MELANOMA	-	-	-	-	BMP8B	NM_001720,p.P230L|ENST00000372827,p.P230L|uc001cdz.1,p.P230L	protein_coding	uc001cdz.1	nonsynonymous SNV	exon4	c.C689T	p.P230L	LYVETEDGHSVDPGLAGLLGQRAPR	LYVETEDGHSVDLGLAGLLGQRAPR	4.0	1.0	unscreened	-	3713_1:40230474-40230474 G>A_LYVETEDGHSVDLGLAGLLGQRAPR
22:45258447-45258447 C>T	0.0	3713	MELANOMA	-	-	-	-	ARHGAP8,PRR5-ARHGAP8	ENST00000389773,p.P547L|ENST00000356099,p.P425L|uc003bfj.3,p.P456L|uc003bfk.3,p.P425L|NM_181335,p.P425L|NM_181334,p.P556L|NM_001017526,p.P456L|ENST00000517296,p.P635L|ENST00000389774,p.P456L|ENST00000361473,p.P556L|uc011aqj.2,p.P478L|ENST00000352766,p.P635L|uc011aqi.2,p.P547L|uc003bfd.3,p.P635L	 processed_transcript,retained_intron, protein_coding, nonsense_mediated_decay	uc011aqj.2	nonsynonymous SNV	exon13	c.C1433T	p.P478L	ATGLTKPTLPPSPLMAARRRL	ATGLTKPTLPPSLLMAARRRL	1.0	3.0	unscreened	-	3713_22:45258447-45258447 C>T_ATGLTKPTLPPSLLMAARRRL
16:77401601-77401601 C>T	0.0	3713	MELANOMA	-	-	ID=COSM225376;OCCURENCE=1(skin),1(NS)	-	ADAMTS18	NM_199355,p.R172Q|uc002ffc.4,p.R172Q|ENST00000449265,p.R172Q|ENST00000282849,p.R172Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ffc.4	nonsynonymous SNV	exon4	c.G515A	p.R172Q	STCAGLSGLIRTRKNEFLISPLPQL	STCAGLSGLIRTQKNEFLISPLPQL	1.0	1.0	unscreened	-	3713_16:77401601-77401601 C>T_STCAGLSGLIRTQKNEFLISPLPQL
1:2103749-2103749 G>A	0.0	3713	MELANOMA	-	-	-	-	PRKCZ	uc001ait.3,p.G251S|NM_001242874,p.G299S|ENST00000378567,p.G403S|ENST00000478770,p.G216S|uc010nyw.2,p.G299S|uc001aiq.3,p.G403S|NM_001033582,p.G220S|NM_002744,p.G403S|ENST00000400921,p.G220S|uc001ais.3,p.G220S|ENST00000461106,p.G299S|ENST00000400920,p.G220S|uc001air.3,p.G220S|NM_001033581,p.G220S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010nyw.2	nonsynonymous SNV	exon10	c.G895A	p.G299S	KLTDYGMCKEGLGPGDTTSTFCGTP	KLTDYGMCKEGLSPGDTTSTFCGTP	4.0	1.0	unscreened	-	3713_1:2103749-2103749 G>A_KLTDYGMCKEGLSPGDTTSTFCGTP
17:10225010-10225010 C>T	0.0	3713	MELANOMA	-	-	-	-	MYH13	uc002gmk.1,p.E984K|ENST00000252172,p.E984K|ENST00000570743,p.E984K|NM_003802,p.E984K|uc010vve.1,p.E82K|ENST00000418404,p.E984K	protein_coding	uc010vve.1	nonsynonymous SNV	exon2	c.G244A	p.E82K	KHATENKVKNLSEEMTALEENISKL	KHATENKVKNLSKEMTALEENISKL	1.0	9.0	unscreened	-	3713_17:10225010-10225010 C>T_KHATENKVKNLSKEMTALEENISKL
7:157370781-157370781 C>T	0.0	3713	MELANOMA	-	-	-	-	PTPRN2	ENST00000389413,p.E821K|NM_130843,p.E821K|ENST00000409483,p.E812K|NM_130842,p.E833K|ENST00000389418,p.E850K|uc003wnq.3,p.E821K|uc003wnr.3,p.E812K|ENST00000389416,p.E833K|uc003wno.3,p.E850K|uc003wnp.3,p.E833K|ENST00000404321,p.E873K|NM_002847,p.E850K|uc011kwa.2,p.E873K	protein_coding	uc011kwa.2	nonsynonymous SNV	exon18	c.G2617A	p.E873K	GCVVIVMLTPLAENGVRQCYHYWPD	GCVVIVMLTPLAKNGVRQCYHYWPD	2.0	1.0	unscreened	-	3713_7:157370781-157370781 C>T_GCVVIVMLTPLAKNGVRQCYHYWPD
9:95738566-95738566 C>T	0.0	3713	MELANOMA	-	-	-	-	FGD3	NM_001083536,p.P10S|uc004asz.2,p.P10S|ENST00000467786,p.P10S|NM_033086,p.P10S|uc004asx.2,p.P10S|ENST00000337352,p.P10S|ENST00000375482,p.P10S|NM_001286993,p.P10S|uc004asw.2,p.P10S|ENST00000416701,p.P10S	protein_coding, processed_transcript, nonsense_mediated_decay	uc004asz.2	nonsynonymous SNV	exon3	c.C28T	p.P10S	MESGRGSSTPPGPIAALGMPDT	MESGRGSSTSPGPIAALGMPDT	5.0	8.0	unscreened	-	3713_9:95738566-95738566 C>T_MESGRGSSTSPGPIAALGMPDT
13:23910027-23910027 G>A	0.0	3713	MELANOMA	-	-	-	-	SACS	NM_001278055,p.P2516L|uc001uoo.3,p.P2516L|ENST00000382298,p.P2663L|ENST00000382292,p.P2663L|uc001uon.3,p.P2663L|ENST00000402364,p.P1913L|NM_014363,p.P2663L	protein_coding, processed_transcript	uc001uoo.3	nonsynonymous SNV	exon8	c.C7547T	p.P2516L	HARYAPGATSISPGRMFRDLDADFR	HARYAPGATSISLGRMFRDLDADFR	4.0	2.0	unscreened	-	3713_13:23910027-23910027 G>A_HARYAPGATSISLGRMFRDLDADFR
5:167673777-167673777 C>T	0.0	3713	MELANOMA	-	-	-	-	TENM2	uc010jje.3,p.L1200F|ENST00000520394,p.L1706F|ENST00000403607,p.L1769F|ENST00000545108,p.L1944F|ENST00000519204,p.L1824F|ENST00000518659,p.L1945F|NM_001122679,p.L1936F|uc010jjd.3,p.L1936F|uc003lzt.4,p.L1309F|uc003lzr.5,p.L1706F	retained_intron, protein_coding, processed_transcript	uc010jje.3	nonsynonymous SNV	exon16	c.C3598T	p.L1200F	SYSYLDKSMVLLLQSQRQYIFEYDS	SYSYLDKSMVLLFQSQRQYIFEYDS	1.0	6.0	unscreened	-	3713_5:167673777-167673777 C>T_SYSYLDKSMVLLFQSQRQYIFEYDS
15:45402093-45402093 G>A	0.0	3713	MELANOMA	-	-	ID=COSM3420336;OCCURENCE=1(large_intestine)	-	DUOX2	uc010bea.3,p.R376W|uc001zun.3,p.R376W|NM_014080,p.R376W|ENST00000389039,p.R376W|ENST00000603300,p.R376W	retained_intron, protein_coding	uc010bea.3	nonsynonymous SNV	exon10	c.C1126T	p.R376W	SQALRVCNNYWIRENPNLNSTQEVN	SQALRVCNNYWIWENPNLNSTQEVN	1.0	2.0	unscreened	-	3713_15:45402093-45402093 G>A_SQALRVCNNYWIWENPNLNSTQEVN
5:140603450-140603450 G>A	1.0	3713	MELANOMA	-	-	-	-	PCDHB14	uc003ljb.3,p.D125N|ENST00000239449,p.D125N|NM_018934,p.D125N	protein_coding	uc003ljb.3	nonsynonymous SNV	exon1	c.G373A	p.D125N	PLQFFRFELCVKDINDHSPTFLDKE	PLQFFRFELCVKNINDHSPTFLDKE	2.0	7.0	unscreened	-	3713_5:140603450-140603450 G>A_PLQFFRFELCVKNINDHSPTFLDKE
7:142655448-142655448 C>T	0.0	3713	MELANOMA	-	-	-	-	KEL	ENST00000467543,p.M137I|ENST00000355265,p.M156I|NM_000420,p.M156I|ENST00000476829,p.M156I|uc003wcb.3,p.M156I	retained_intron, protein_coding, processed_transcript	uc003wcb.3	nonsynonymous SNV	exon5	c.G468A	p.M156I	GEEKAFQFYNSCMDTLAIEAAGTGP	GEEKAFQFYNSCIDTLAIEAAGTGP	1.0	8.0	unscreened	-	3713_7:142655448-142655448 C>T_GEEKAFQFYNSCIDTLAIEAAGTGP
17:66924165-66924165 G>A	0.0	3713	MELANOMA	-	-	-	-	ABCA8	NM_007168,p.P389S|uc002jhq.3,p.P389S|NM_001288985,p.P389S|NM_001288986,p.P389S|uc010wqq.2,p.P389S|uc010wqr.2,p.P328S|ENST00000269080,p.P389S|uc002jhp.3,p.P389S|uc002jhr.3,p.P389S|ENST00000430352,p.P389S|ENST00000586539,p.P389S	retained_intron, protein_coding, non_stop_decay	uc010wqr.2	nonsynonymous SNV	exon8	c.C982T	p.P328S	LHLDYDLNSNAFPHPSDGSNLIVAT	LHLDYDLNSNAFSHPSDGSNLIVAT	1.0	10.0	unscreened	-	3713_17:66924165-66924165 G>A_LHLDYDLNSNAFSHPSDGSNLIVAT
3:19975140-19975140 C>T	0.0	3713	MELANOMA	-	-	-	-	EFHB	NM_144715,p.R124Q|ENST00000389256,p.R124Q|ENST00000295824,p.R124Q|uc003cbl.4,p.R124Q	protein_coding, processed_transcript	uc003cbl.4	nonsynonymous SNV	exon1	c.G371A	p.R124Q	ENESLLAGYTHERIIQPPLGRVCGS	ENESLLAGYTHEQIIQPPLGRVCGS	2.0	2.0	unscreened	-	3713_3:19975140-19975140 C>T_ENESLLAGYTHEQIIQPPLGRVCGS
6:54806195-54806195 C>T	0.0	3713	MELANOMA	-	-	-	-	FAM83B	NM_001010872,p.S809F|ENST00000306858,p.S809F|uc003pck.4,p.S809F	protein_coding	uc003pck.4	nonsynonymous SNV	exon5	c.C2426T	p.S809F	FYRLCSSSDTLVSEGEENQKPKKSD	FYRLCSSSDTLVFEGEENQKPKKSD	1.0	1.0	unscreened	-	3713_6:54806195-54806195 C>T_FYRLCSSSDTLVFEGEENQKPKKSD
4:20482373-20482373 G>A	0.0	3713	MELANOMA	-	-	-	-	SLIT2	uc003gps.1,p.D168N|ENST00000504154,p.D168N|ENST00000508824,p.D129N|NM_001289136,p.D168N|NM_001289135,p.D168N|uc003gpr.1,p.D168N|ENST00000503823,p.D168N|ENST00000273739,p.D168N|NM_004787,p.D168N|ENST00000503837,p.D168N	retained_intron, protein_coding, processed_transcript	uc003gps.1	nonsynonymous SNV	exon6	c.G502A	p.D168N	LQLDYNQISCIEDGAFRALRDLEVL	LQLDYNQISCIENGAFRALRDLEVL	3.0	5.0	-	-	3713_4:20482373-20482373 G>A_LQLDYNQISCIENGAFRALRDLEVL
3:108705739-108705739 G>A	0.0	3713	MELANOMA	-	-	-	-	MORC1	NM_014429,p.L749F|ENST00000483760,p.L728F|ENST00000232603,p.L749F|uc003dxl.3,p.L749F|uc011bhn.2,p.L728F	protein_coding	uc011bhn.2	nonsynonymous SNV	exon21	c.C2182T	p.L728F	DVSLKQEKKEIPLLNQEKQELCNDV	DVSLKQEKKEIPFLNQEKQELCNDV	1.0	1.0	unscreened	-	3713_3:108705739-108705739 G>A_DVSLKQEKKEIPFLNQEKQELCNDV
19:9000489-9000489 G>A	0.0	3713	MELANOMA	-	-	-	2	MUC16	uc010dwj.3,p.P316S|ENST00000380951,p.P140S|NM_024690,p.P13499S|ENST00000397910,p.P13499S|uc002mkp.3,p.P13499S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dwj.3	nonsynonymous SNV	exon11	c.C946T	p.P316S	ITNLRYEENMHHPGSRKFNTTERVL	ITNLRYEENMHHSGSRKFNTTERVL	1.0	10.0	unscreened	-	3713_19:9000489-9000489 G>A_ITNLRYEENMHHSGSRKFNTTERVL
11:47354118-47354118 T>C	0.0	3713	MELANOMA	-	-	-	-	MYBPC3	ENST00000545968,p.K1209R|ENST00000399249,p.K1209R|uc021qis.1,p.K1209R|NM_000256,p.K1209R|ENST00000256993,p.K1208R	protein_coding, nonsense_mediated_decay	uc021qis.1	nonsynonymous SNV	exon32	c.A3626G	p.K1209R	TAMLCCAVRGSPKPKISWFKNGLDL	TAMLCCAVRGSPRPKISWFKNGLDL	1.0	10.0	unscreened	-	3713_11:47354118-47354118 T>C_TAMLCCAVRGSPRPKISWFKNGLDL
5:73188009-73188009 G>A	1.0	3713	MELANOMA	-	-	-	-	ARHGEF28	NM_001080479,p.E1174K|ENST00000426542,p.E1174K|uc011csr.2,p.E861K|ENST00000512883,p.E138K|uc003kda.4,p.E138K|uc021yam.1,p.E1174K|ENST00000296799,p.E861K|ENST00000296794,p.E1174K|uc010izf.3,p.E1174K|uc003kcz.4,p.E138K|uc011csq.2,p.E1174K|ENST00000545377,p.E1174K|NM_001244364,p.E861K|ENST00000437974,p.E1174K|ENST00000513042,p.E1174K|NM_001177693,p.E1174K|ENST00000287898,p.E1174K	retained_intron, protein_coding, processed_transcript	uc021yam.1	nonsynonymous SNV	exon26	c.G3520A	p.E1174K	GPEMYEIHTNSKEERNNWMRRIQQA	GPEMYEIHTNSKKERNNWMRRIQQA	5.0	9.0	-	-	3713_5:73188009-73188009 G>A_GPEMYEIHTNSKKERNNWMRRIQQA
17:10300005-10300005 C>T	0.0	3713	MELANOMA	-	-	-	-	MYH8	ENST00000403437,p.E1465K|uc002gmm.2,p.E1465K|NM_002472,p.E1465K	protein_coding	uc002gmm.2	nonsynonymous SNV	exon32	c.G4393A	p.E1465K	DKVLSEWKQKYEETQAELEASQKES	DKVLSEWKQKYEKTQAELEASQKES	1.0	10.0	unscreened	-	3713_17:10300005-10300005 C>T_DKVLSEWKQKYEKTQAELEASQKES
10:27964177-27964177 G>A	0.0	3713	MELANOMA	-	-	-	-	MKX	NM_173576,p.P347L|uc001itx.4,p.P347L|ENST00000375790,p.P347L|ENST00000419761,p.P347L|uc001ity.4,p.P347L|NM_001242702,p.P347L	protein_coding	uc001ity.4	nonsynonymous SNV	exon7	c.C1040T	p.P347L	SSHIAEVKTVKVPLVQQF	SSHIAEVKTVKVLLVQQF	1.0	6.0	unscreened	-	3713_10:27964177-27964177 G>A_SSHIAEVKTVKVLLVQQF
1:36769574-36769574 G>A	1.0	3713	MELANOMA	-	-	-	2	THRAP3	ENST00000354618,p.E942K|NM_005119,p.E942K|ENST00000469141,p.E942K|uc001cae.4,p.E942K|uc001caf.4,p.E942K	protein_coding, processed_transcript	uc001caf.4	nonsynonymous SNV	exon13	c.G2824A	p.E942K	EEGEIEDDESGTENREEKDNIQPTT	EEGEIEDDESGTKNREEKDNIQPTT	9.0	10.0	-	-	3713_1:36769574-36769574 G>A_EEGEIEDDESGTKNREEKDNIQPTT
10:124380578-124380578 G>A	0.0	3713	MELANOMA	-	-	-	-	DMBT1	uc021qah.1,p.E1007K|ENST00000368956,p.E1007K|ENST00000368955,p.E1625K|uc001lgk.1,p.E1635K|NM_004406,p.E1007K|uc001lgl.1,p.E1625K|uc021qaf.1,p.E1635K|NM_017579,p.E1625K|ENST00000338354,p.E1635K|uc001lgm.1,p.E1007K|ENST00000368909,p.E1635K|uc021qag.1,p.E1625K|uc009xzz.1,p.E1635K|NM_007329,p.E1635K|ENST00000344338,p.E1625K|ENST00000330163,p.E1007K|uc009yab.1,p.E338K	protein_coding	uc021qah.1	nonsynonymous SNV	exon28	c.G3019A	p.E1007K	LTTNLPALTVGSESSLALRLVNGGD	LTTNLPALTVGSKSSLALRLVNGGD	1.0	3.0	unscreened	-	3713_10:124380578-124380578 G>A_LTTNLPALTVGSKSSLALRLVNGGD
12:4919746-4919746 C>T	0.0	3713	MELANOMA	-	-	-	-	KCNA6	ENST00000280684,p.S180F|uc021qtr.1,p.S180F|NM_002235,p.S180F|uc001qng.3,p.S180F|ENST00000433855,p.S180F	protein_coding	uc021qtr.1	nonsynonymous SNV	exon1	c.C539T	p.S180F	ESSGPARGIAIVSVLVILISIVIFC	ESSGPARGIAIVFVLVILISIVIFC	1.0	5.0	unscreened	-	3713_12:4919746-4919746 C>T_ESSGPARGIAIVFVLVILISIVIFC
15:45778844-45778844 G>A	0.0	3713	MELANOMA	-	-	-	-	SLC30A4	ENST00000261867,p.S367L|uc001zvj.3,p.S367L|NM_013309,p.S367L	protein_coding, processed_transcript	uc001zvj.3	nonsynonymous SNV	exon7	c.C1100T	p.S367L	YSVEDLNIWSLTSGKSTAIVHIQLI	YSVEDLNIWSLTLGKSTAIVHIQLI	3.0	3.0	unscreened	-	3713_15:45778844-45778844 G>A_YSVEDLNIWSLTLGKSTAIVHIQLI
5:66055648-66055648 G>A	0.0	3713	MELANOMA	-	-	-	-	MAST4	NM_001290228,p.G159R|NM_198828,p.G159R|uc021xzk.1,p.G159R|ENST00000403625,p.G159R|ENST00000432817,p.G31R|ENST00000406039,p.G159R|ENST00000404260,p.G159R|NM_001164664,p.G159R|ENST00000406374,p.G159R|uc010iwz.3,p.G159R|uc003jur.4,p.G159R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xzk.1	nonsynonymous SNV	exon2	c.G475A	p.G159R	KSLKYKRQLSEDGRQLRRGSLGGAL	KSLKYKRQLSEDRRQLRRGSLGGAL	3.0	10.0	unscreened	-	3713_5:66055648-66055648 G>A_KSLKYKRQLSEDRRQLRRGSLGGAL
1:43777671-43777671 C>T	0.0	3713	MELANOMA	-	-	-	-	TIE1	uc010okd.2,p.P500L|uc001ciu.3,p.P500L|ENST00000433781,p.P145L|uc010okg.2,p.P145L|uc010okf.1,p.P145L|NM_005424,p.P500L|NM_001253357,p.P455L|uc010oke.2,p.P455L|uc009vwq.3,p.P456L|ENST00000372476,p.P500L	protein_coding, processed_transcript	uc010okg.2	nonsynonymous SNV	exon6	c.C434T	p.P145L	DSTMDWSTIVVDPSENVTLMNLRPK	DSTMDWSTIVVDLSENVTLMNLRPK	3.0	8.0	unscreened	-	3713_1:43777671-43777671 C>T_DSTMDWSTIVVDLSENVTLMNLRPK
18:50976983-50976983 G>A	0.0	3713	MELANOMA	-	-	-	2	DCC	ENST00000581580,p.V750I|uc010dpf.2,p.V750I|ENST00000442544,p.V1115I|NM_005215,p.V1115I|uc002lfe.2,p.V1115I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dpf.2	nonsynonymous SNV	exon20	c.G2248A	p.V750I	VVTVGVITVLVVVIVAVICTRRSSA	VVTVGVITVLVVIIVAVICTRRSSA	1.0	4.0	unscreened	-	3713_18:50976983-50976983 G>A_VVTVGVITVLVVIIVAVICTRRSSA
16:77326983-77326983 G>A	0.0	3713	MELANOMA	0.0009	-	-	-	ADAMTS18	uc010chc.1,p.S648L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010chc.1	nonsynonymous SNV	exon15	c.C1943T	p.S648L	CPKNSRLQWVASSWSEVWIRSHCWV	CPKNSRLQWVASLWSEVWIRSHCWV	1.0	7.0	unscreened	-	3713_16:77326983-77326983 G>A_CPKNSRLQWVASLWSEVWIRSHCWV
17:18647600-18647600 C>T	0.0	3713	MELANOMA	-	-	-	-	FBXW10	uc010cqh.2,p.R15C|ENST00000395665,p.R15C|ENST00000301938,p.R15C|ENST00000395667,p.R15C|NM_001267585,p.R15C|uc002gul.3,p.R15C|NM_001267586,p.R15C|ENST00000574478,p.R15C|uc002guk.3,p.R15C|ENST00000308799,p.R15C	protein_coding, processed_transcript, nonsense_mediated_decay	uc010cqh.2	nonsynonymous SNV	exon1	c.C43T	p.R15C	NLESRLKNAPYFRCEKGTDSIPLCR	NLESRLKNAPYFCCEKGTDSIPLCR	1.0	9.0	unscreened	-	3713_17:18647600-18647600 C>T_NLESRLKNAPYFCCEKGTDSIPLCR
1:167666498-167666498 G>A	0.0	3713	MELANOMA	-	-	-	-	RCSD1	ENST00000537350,p.A183T|uc010pli.2,p.A183T|NM_052862,p.A213T|uc001gem.3,p.A213T|ENST00000367854,p.A213T	protein_coding, processed_transcript	uc010pli.2	nonsynonymous SNV	exon5	c.G547A	p.A183T	EDGDEVLPSKSKAPGSPLSSEGAAG	EDGDEVLPSKSKTPGSPLSSEGAAG	6.0	6.0	unscreened	-	3713_1:167666498-167666498 G>A_EDGDEVLPSKSKTPGSPLSSEGAAG
10:98192671-98192671 G>A	0.0	3713	MELANOMA	-	-	-	-	TLL2	ENST00000357947,p.A138V|NM_012465,p.A138V|uc001kml.2,p.A138V	protein_coding, processed_transcript	uc001kml.2	nonsynonymous SNV	exon4	c.C413T	p.A138V	NTTLLHSPGTLHAAAKTFSPRVRRA	NTTLLHSPGTLHVAAKTFSPRVRRA	1.0	5.0	unscreened	-	3713_10:98192671-98192671 G>A_NTTLLHSPGTLHVAAKTFSPRVRRA
6:29430249-29430249 G>A	0.0	3713	MELANOMA	-	-	-	-	OR2H1	ENST00000377132,p.A235T|uc021ytr.1,p.A235T|uc003nmj.1,p.A235T|NM_030883,p.A235T|ENST00000442615,p.A235T|ENST00000377136,p.A235T|uc031smz.1,p.A157T|ENST00000396792,p.A235T|ENST00000377133,p.A235T|uc003nmi.3,p.A235T	protein_coding, processed_transcript	uc031smz.1	nonsynonymous SNV	exon2	c.G469A	p.A157T	VLRINSATAWRKAFGTCSSHLTVVT	VLRINSATAWRKTFGTCSSHLTVVT	1.0	3.0	unscreened	-	3713_6:29430249-29430249 G>A_VLRINSATAWRKTFGTCSSHLTVVT
5:137289039-137289039 C>T	1.0	3713	MELANOMA	-	-	-	-	FAM13B	uc003lcb.2,p.E494K|NM_001101800,p.E590K|uc003lbz.2,p.E590K|ENST00000420893,p.E590K|NM_001101801,p.E494K|ENST00000425075,p.E494K|ENST00000033079,p.E590K|uc003lca.2,p.E590K|NM_016603,p.E590K	retained_intron, protein_coding	uc003lcb.2	nonsynonymous SNV	exon15	c.G1480A	p.E494K	KKIRQFEEQFERERNSKPSYSDIAA	KKIRQFEEQFERKRNSKPSYSDIAA	7.0	9.0	-	-	3713_5:137289039-137289039 C>T_KKIRQFEEQFERKRNSKPSYSDIAA
14:80963862-80963862 C>T	1.0	3713	MELANOMA	-	-	-	-	CEP128	ENST00000555265,p.G1082E|uc031qpo.1,p.G1109E|ENST00000281129,p.G1082E|uc001xux.2,p.G1082E|NM_152446,p.G1082E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qpo.1	nonsynonymous SNV	exon26	c.G3326A	p.G1109E	DSASNKEDATMNGTSSQPKKEEYGS	DSASNKEDATMNETSSQPKKEEYGS	4.0	9.0	-	-	3713_14:80963862-80963862 C>T_DSASNKEDATMNETSSQPKKEEYGS
19:57326176-57326176 G>A	0.0	3713	MELANOMA	-	-	-	-	PEG3	uc002qnv.2,p.R1212C|NM_001146187,p.R1088C|ENST00000593695,p.R1086C|NM_001146185,p.R1086C|uc010etr.2,p.R1212C|uc002qnt.2,p.R1183C|ENST00000326441,p.R1212C|ENST00000599577,p.R1212C|ENST00000599534,p.R1212C|uc002qnw.2,p.R1088C|ENST00000598410,p.R1088C|NM_006210,p.R1212C|uc002qnu.2,p.R1212C|NM_001146186,p.R1212C|NM_001146184,p.R1212C|ENST00000423103,p.R1212C|uc002qnx.2,p.R1086C	protein_coding, processed_transcript	uc010etr.2	nonsynonymous SNV	exon9	c.C3634T	p.R1212C	FIALLPMKPRRNRAAERNPALAGSA	FIALLPMKPRRNCAAERNPALAGSA	1.0	5.0	unscreened	-	3713_19:57326176-57326176 G>A_FIALLPMKPRRNCAAERNPALAGSA
6:62442651-62442651 C>T	0.0	3713	MELANOMA	-	-	-	-	KHDRBS2	NM_152688,p.G277R|ENST00000281156,p.G277R|uc003peg.2,p.G277R	protein_coding	uc003peg.2	nonsynonymous SNV	exon7	c.G829A	p.G277R	EAYEEYGYDDGYGGEYDDQTYETYD	EAYEEYGYDDGYRGEYDDQTYETYD	1.0	9.0	unscreened	-	3713_6:62442651-62442651 C>T_EAYEEYGYDDGYRGEYDDQTYETYD
15:50279605-50279605 C>T	0.0	3713	MELANOMA	-	-	-	-	ATP8B4	uc010ufd.2,p.G117E|ENST00000284509,p.G244E|uc010ber.3,p.G117E|ENST00000559829,p.G244E|uc001zxu.3,p.G244E|NM_024837,p.G244E|ENST00000557955,p.G244E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ufd.2	nonsynonymous SNV	exon11	c.G350A	p.G117E	RGCILRNTSWCFGMVIFAGPDTKLM	RGCILRNTSWCFEMVIFAGPDTKLM	2.0	9.0	unscreened	-	3713_15:50279605-50279605 C>T_RGCILRNTSWCFEMVIFAGPDTKLM
10:98715354-98715354 C>T	1.0	3713	MELANOMA	-	-	-	-	LCOR	ENST00000371097,p.P326L|uc001kms.2,p.P326L|NM_032440,p.P326L|uc001kmr.3,p.P326L|NM_001170766,p.P326L|ENST00000371103,p.P326L|uc001kmu.2,p.P326L|uc021pwp.1,p.P66L|ENST00000356016,p.P326L|ENST00000540664,p.P326L|NM_001170765,p.P326L	protein_coding, processed_transcript	uc021pwp.1	nonsynonymous SNV	exon1	c.C197T	p.P66L	SDAEQSTSGQPYPTSDQEGDPGSKQ	SDAEQSTSGQPYLTSDQEGDPGSKQ	4.0	5.0	unscreened	-	3713_10:98715354-98715354 C>T_SDAEQSTSGQPYLTSDQEGDPGSKQ
8:110984991-110984991 C>T	0.0	3713	MELANOMA	-	-	-	-	KCNV1	NM_014379,p.E163K|ENST00000524391,p.E163K|uc003ynr.4,p.E163K|ENST00000297404,p.E163K|uc010mcw.3,p.E163K	protein_coding	uc010mcw.3	nonsynonymous SNV	exon3	c.G487A	p.E163K	CRDRYFRRKELSETLDFKKDTEDQE	CRDRYFRRKELSKTLDFKKDTEDQE	1.0	9.0	unscreened	-	3713_8:110984991-110984991 C>T_CRDRYFRRKELSKTLDFKKDTEDQE
11:117241965-117241965 A>G	1.0	3713	MELANOMA	-	-	-	-	CEP164	NM_001271933,p.E312G|ENST00000278935,p.E312G|NM_014956,p.E312G|uc001prb.4,p.E312G|uc001prc.3,p.E312G|uc010rxk.1,p.E286G	retained_intron, protein_coding, processed_transcript	uc010rxk.1	nonsynonymous SNV	exon7	c.A857G	p.E286G	GRQGSGARPGLPEKEENEKSEPKIC	GRQGSGARPGLPGKEENEKSEPKIC	8.0	1.0	unscreened	-	3713_11:117241965-117241965 A>G_GRQGSGARPGLPGKEENEKSEPKIC
2:131369356-131369356 G>A	0.0	3713	MELANOMA	-	-	-	-	POTEJ	uc021vor.2,p.G84E|ENST00000409602,p.G84E|NM_001277083,p.G84E	protein_coding	uc021vor.2	nonsynonymous SNV	exon1	c.G251A	p.G84E	CRGSGKSNVGAWGDYDDSAFVEPRY	CRGSGKSNVGAWEDYDDSAFVEPRY	1.0	1.0	unscreened	-	3713_2:131369356-131369356 G>A_CRGSGKSNVGAWEDYDDSAFVEPRY
5:9066581-9066581 C>T	0.0	3713	MELANOMA	-	-	ID=COSM180280;OCCURENCE=1(large_intestine),1(pancreas)	-	SEMA5A	uc003jek.2,p.E751K|ENST00000382496,p.E751K|NM_003966,p.E751K	protein_coding, nonsense_mediated_decay	uc003jek.2	nonsynonymous SNV	exon17	c.G2251A	p.E751K	DPNLLEVGRQRIEMRYCSSDGTSGC	DPNLLEVGRQRIKMRYCSSDGTSGC	2.0	9.0	unscreened	-	3713_5:9066581-9066581 C>T_DPNLLEVGRQRIKMRYCSSDGTSGC
15:48766550-48766550 G>T	1.0	3713	MELANOMA	-	-	-	-	FBN1	uc001zwx.2,p.T1371N|NM_000138,p.T1371N|ENST00000316623,p.T1371N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zwx.2	nonsynonymous SNV	exon34	c.C4112A	p.T1371N	IKCTDLDECSNGTHMCSQHADCKNT	IKCTDLDECSNGNHMCSQHADCKNT	3.0	10.0	-	-	3713_15:48766550-48766550 G>T_IKCTDLDECSNGNHMCSQHADCKNT
15:57731321-57731321 G>A	0.0	3713	MELANOMA	-	-	-	-	CGNL1	NM_001252335,p.R375Q|uc010bfw.3,p.R375Q|uc002aeg.3,p.R375Q|NM_032866,p.R375Q|ENST00000281282,p.R375Q	protein_coding, processed_transcript	uc010bfw.3	nonsynonymous SNV	exon3	c.G1124A	p.R375Q	KPGLQRRGRSGKRNRINTDDRKRSR	KPGLQRRGRSGKQNRINTDDRKRSR	2.0	10.0	unscreened	-	3713_15:57731321-57731321 G>A_KPGLQRRGRSGKQNRINTDDRKRSR
15:83013652-83013652 C>T	0.0	3713	MELANOMA	-	-	-	-	GOLGA6L10	ENST00000557886,p.E311K	retained_intron, protein_coding	ENST00000557886	nonsynonymous SNV	exon6	c.G931A	p.E311K	LREQEERLCEQEERLREQEERLCEQ	LREQEERLCEQEKRLREQEERLCEQ	1.0	1.0	unscreened	-	3713_15:83013652-83013652 C>T_LREQEERLCEQEKRLREQEERLCEQ
11:51411879-51411879 G>A	0.0	3713	MELANOMA	-	-	-	-	OR4A5	ENST00000319760,p.H173Y|NM_001005272,p.H173Y|uc001nhi.2,p.H173Y	protein_coding	uc001nhi.2	nonsynonymous SNV	exon1	c.C517T	p.H173Y	YSLPFCGPNVIVHFSCDMHPLLELA	YSLPFCGPNVIVYFSCDMHPLLELA	1.0	3.0	unscreened	-	3713_11:51411879-51411879 G>A_YSLPFCGPNVIVYFSCDMHPLLELA
7:132169747-132169747 C>T	0.0	3713	MELANOMA	-	-	-	-	PLXNA4	NM_181775,p.G466E|ENST00000378539,p.G466E|uc003vrb.3,p.G466E	retained_intron, protein_coding	uc003vrb.3	nonsynonymous SNV	exon5	c.G1397A	p.G466E	KLKKSFGTGPQGGITQEWIGVEGDP	KLKKSFGTGPQGEITQEWIGVEGDP	1.0	6.0	unscreened	-	3713_7:132169747-132169747 C>T_KLKKSFGTGPQGEITQEWIGVEGDP
1:169580872-169580872 C>T	0.0	3713	MELANOMA	-	-	-	-	SELP	uc001ggi.4,p.M335I|ENST00000367788,p.M273I|ENST00000367793,p.M273I|uc001ggh.3,p.M170I|uc009wvr.3,p.M335I|ENST00000426706,p.M334I|ENST00000263686,p.M335I|NM_003005,p.M335I	protein_coding, processed_transcript	uc009wvr.3	nonsynonymous SNV	exon7	c.G1005A	p.M335I	QCQHLEAPSEGTMDCVHPLTAFAYG	QCQHLEAPSEGTIDCVHPLTAFAYG	1.0	6.0	unscreened	-	3713_1:169580872-169580872 C>T_QCQHLEAPSEGTIDCVHPLTAFAYG
4:144621126-144621126 G>A	0.0	3713	MELANOMA	-	-	-	-	FREM3	uc021xsj.1,p.P235S|ENST00000329798,p.P235S|NM_001168235,p.P235S	protein_coding, processed_transcript	uc021xsj.1	nonsynonymous SNV	exon1	c.C703T	p.P235S	YGRLVDAVGAPLPRGKGVDCEAFLR	YGRLVDAVGAPLSRGKGVDCEAFLR	1.0	10.0	unscreened	-	3713_4:144621126-144621126 G>A_YGRLVDAVGAPLSRGKGVDCEAFLR
2:141259393-141259393 G>A	0.0	3713	MELANOMA	-	-	-	1	LRP1B	ENST00000389484,p.P2905S|uc002tvj.1,p.P2905S|NM_018557,p.P2905S	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon55	c.C8713T	p.P2905S	SSFFMCKNGRCIPSGGLCDNKDDCG	SSFFMCKNGRCISSGGLCDNKDDCG	1.0	10.0	unscreened	-	3713_2:141259393-141259393 G>A_SSFFMCKNGRCISSGGLCDNKDDCG
X:148037471-148037471 A>T	0.0	3713	MELANOMA	-	-	-	-	AFF2	NM_001169122,p.K599N|ENST00000370457,p.K599N|NM_001170628,p.K273N|uc011mxb.2,p.K597N|ENST00000342251,p.K599N|NM_001169123,p.K622N|uc004fcs.3,p.K599N|NM_001169124,p.K597N|ENST00000370460,p.K632N|uc004fcq.3,p.K622N|uc004fcp.3,p.K632N|uc011mxc.2,p.K273N|NM_001169125,p.K593N|ENST00000286437,p.K273N|uc004fcr.3,p.K593N|NM_002025,p.K632N	protein_coding	uc011mxc.2	nonsynonymous SNV	exon8	c.A819T	p.K273N	TVSQRTIGKKQPKKVEKNTSTDEFT	TVSQRTIGKKQPNKVEKNTSTDEFT	1.0	10.0	unscreened	-	3713_X:148037471-148037471 A>T_TVSQRTIGKKQPNKVEKNTSTDEFT
10:104171566-104171566 T>C	0.0	3713	MELANOMA	-	-	-	-	PSD	ENST00000406432,p.K614E|ENST00000020673,p.K614E|uc009xxd.2,p.K614E|NM_001270965,p.K614E|NM_001270966,p.K235E|uc001kvh.2,p.K235E|NM_002779,p.K614E|uc001kvg.2,p.K614E	protein_coding, processed_transcript	uc009xxd.2	nonsynonymous SNV	exon9	c.A1840G	p.K614E	GMTLDQALRVFLKELALMGETQERE	GMTLDQALRVFLEELALMGETQERE	4.0	5.0	unscreened	-	3713_10:104171566-104171566 T>C_GMTLDQALRVFLEELALMGETQERE
16:58079094-58079094 C>T	1.0	3713	MELANOMA	-	-	-	-	MMP15	ENST00000219271,p.P585L|uc002ena.3,p.P585L|NM_002428,p.P585L	protein_coding	uc002ena.3	nonsynonymous SNV	exon10	c.C1754T	p.P585L	ARPPFNPHGGAEPGADSAEGDVGDG	ARPPFNPHGGAELGADSAEGDVGDG	3.0	1.0	unscreened	-	3713_16:58079094-58079094 C>T_ARPPFNPHGGAELGADSAEGDVGDG
18:28714741-28714741 C>T	0.0	3713	MELANOMA	-	-	ID=COSM987489,COSM987488;OCCURENCE=1(endometrium)	-	DSC1	uc002kwm.3,p.R557Q|uc002kwn.3,p.R557Q|ENST00000257198,p.R557Q|NM_004948,p.R557Q|NM_024421,p.R557Q|ENST00000257197,p.R557Q	protein_coding	uc002kwn.3	nonsynonymous SNV	exon12	c.G1670A	p.R557Q	YNISVVAVDAVGRSCTGTLVVHLDD	YNISVVAVDAVGQSCTGTLVVHLDD	1.0	9.0	unscreened	-	3713_18:28714741-28714741 C>T_YNISVVAVDAVGQSCTGTLVVHLDD
10:95400704-95400704 G>A	0.0	3713	MELANOMA	-	-	-	-	PDE6C	uc001kiu.4,p.D589N|ENST00000371447,p.D589N|NM_006204,p.D589N	protein_coding, processed_transcript	uc001kiu.4	nonsynonymous SNV	exon14	c.G1765A	p.D589N	LLMTGRLKKYYTDLEAFAMLAAAFC	LLMTGRLKKYYTNLEAFAMLAAAFC	1.0	3.0	unscreened	-	3713_10:95400704-95400704 G>A_LLMTGRLKKYYTNLEAFAMLAAAFC
10:115405648-115405648 G>A	0.0	3713	MELANOMA	0.0014	-	-	-	NRAP	ENST00000360478,p.S349L|NM_198060,p.S349L|ENST00000369358,p.S349L|ENST00000369360,p.S349L|ENST00000359988,p.S349L|uc001laj.4,p.S349L|NM_006175,p.S349L|uc001lak.4,p.S349L|uc001lal.4,p.S349L|NM_001261463,p.S349L	protein_coding	uc001lal.4	nonsynonymous SNV	exon11	c.C1046T	p.S349L	DFNKMKGAAHYHSLPAQDNLVLKQA	DFNKMKGAAHYHLLPAQDNLVLKQA	1.0	6.0	unscreened	-	3713_10:115405648-115405648 G>A_DFNKMKGAAHYHLLPAQDNLVLKQA
3:18393510-18393510 T>A	0.0	3713	MELANOMA	-	-	-	-	SATB1	ENST00000417717,p.I585F|uc003cbi.3,p.I585F|NM_001195470,p.I585F	retained_intron, protein_coding	uc003cbi.3	nonsynonymous SNV	exon10	c.A1753T	p.I585F	AVHHHGDRPPHIIHVPAEQIQSPSP	AVHHHGDRPPHIFHVPAEQIQSPSP	4.0	3.0	unscreened	-	3713_3:18393510-18393510 T>A_AVHHHGDRPPHIFHVPAEQIQSPSP
10:13541783-13541783 G>A	0.0	3713	MELANOMA	-	-	-	-	BEND7	ENST00000396898,p.S148F|uc001imo.4,p.S96F|ENST00000378605,p.S96F|NM_001100912,p.S96F	protein_coding, processed_transcript	uc001imo.4	nonsynonymous SNV	exon2	c.C287T	p.S96F	RTFQSQPHPTTSSNGMVVNKHSEGS	RTFQSQPHPTTSFNGMVVNKHSEGS	1.0	4.0	unscreened	-	3713_10:13541783-13541783 G>A_RTFQSQPHPTTSFNGMVVNKHSEGS
5:80388670-80388670 C>A	0.0	3713	MELANOMA	-	-	-	-	RASGRF2	ENST00000503795,p.R481S|NM_006909,p.R481S|ENST00000265080,p.R481S|uc003kha.2,p.R481S	protein_coding, processed_transcript, nonsense_mediated_decay	uc003kha.2	nonsynonymous SNV	exon10	c.C1441A	p.R481S	VPSVERGKLSKVRLGSLSLKKEGER	VPSVERGKLSKVSLGSLSLKKEGER	2.0	6.0	unscreened	-	3713_5:80388670-80388670 C>A_VPSVERGKLSKVSLGSLSLKKEGER
8:87683300-87683300 G>A	0.0	3713	MELANOMA	-	-	-	-	CNGB3	NM_019098,p.P122L|uc003ydx.3,p.P122L|ENST00000320005,p.P122L	protein_coding, processed_transcript	uc003ydx.3	nonsynonymous SNV	exon4	c.C365T	p.P122L	GPNSPQNKPPAAPVINEYADAQLHN	GPNSPQNKPPAALVINEYADAQLHN	1.0	9.0	unscreened	-	3713_8:87683300-87683300 G>A_GPNSPQNKPPAALVINEYADAQLHN
3:99567893-99567893 C>T	0.0	3713	MELANOMA	-	-	-	-	FILIP1L	uc003dto.3,p.G876E|NM_001282793,p.G452E|NM_001042459,p.G876E|uc003dtn.3,p.G636E|ENST00000487087,p.G452E|uc021xbr.1,p.G636E|ENST00000331335,p.G876E|NM_001282794,p.G636E|ENST00000471562,p.G636E|uc003dtp.1,p.G636E|uc010hpg.3,p.G636E|uc003dtm.3,p.G876E|NM_182909,p.G876E|NM_014890,p.G636E|ENST00000495625,p.G636E|ENST00000354552,p.G876E|ENST00000383694,p.G636E|uc010hpf.3,p.G452E	protein_coding, processed_transcript	uc021xbr.1	nonsynonymous SNV	exon1	c.G1907A	p.G636E	PWMKSKEGHLQNGKMQTKPNANFVQ	PWMKSKEGHLQNEKMQTKPNANFVQ	6.0	8.0	unscreened	-	3713_3:99567893-99567893 C>T_PWMKSKEGHLQNEKMQTKPNANFVQ
11:55111613-55111613 C>T	0.0	3713	MELANOMA	-	-	-	-	OR4A16	uc010rie.2,p.P313S|ENST00000314721,p.P313S|NM_001005274,p.P313S	protein_coding	uc010rie.2	nonsynonymous SNV	exon1	c.C937T	p.P313S	CEKLSIVRKRVSPTLNIFIPSSKAT	CEKLSIVRKRVSSTLNIFIPSSKAT	1.0	3.0	unscreened	-	3713_11:55111613-55111613 C>T_CEKLSIVRKRVSSTLNIFIPSSKAT
22:26219488-26219488 C>T	0.0	3713	MELANOMA	-	-	-	-	MYO18B	ENST00000539302,p.S798L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000539302	nonsynonymous SNV	exon11	c.C2393T	p.S798L	GMGVWSKWVGSSS	GMGVWSKWVGSSL	1.0	2.0	unscreened	-	3713_22:26219488-26219488 C>T_GMGVWSKWVGSSL
7:82785144-82785144 T>G	1.0	3713	MELANOMA	-	-	-	-	PCLO	ENST00000333891,p.K271N|NM_014510,p.K271N|uc003uhv.2,p.K271N|ENST00000423517,p.K271N|NM_033026,p.K271N|uc003uhx.2,p.K271N	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon2	c.A813C	p.K271N	QGPTQTPQTDHAKLPLQRDASRPQT	QGPTQTPQTDHANLPLQRDASRPQT	2.0	8.0	unscreened	-	3713_7:82785144-82785144 T>G_QGPTQTPQTDHANLPLQRDASRPQT
6:44310963-44310963 G>A	0.0	3713	MELANOMA	-	-	-	-	SPATS1	NM_145026,p.R44K|ENST00000288390,p.R44K|ENST00000323108,p.R44K|uc003oxk.3,p.R44K|uc021yzz.1,p.R44K|ENST00000515220,p.R44K	protein_coding, nonsense_mediated_decay	uc021yzz.1	nonsynonymous SNV	exon2	c.G131A	p.R44K	PEKRDSGMTEVERTYSANCSDFLES	PEKRDSGMTEVEKTYSANCSDFLES	1.0	1.0	unscreened	-	3713_6:44310963-44310963 G>A_PEKRDSGMTEVEKTYSANCSDFLES
3:47284595-47284595 G>A	0.0	3713	MELANOMA	-	-	-	-	KIF9	ENST00000452770,p.S552F|uc010hjp.3,p.S552F|ENST00000335044,p.S552F|NM_182902,p.S552F|uc003cqx.3,p.S552F|NM_001134878,p.S552F|ENST00000265529,p.S552F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hjp.3	nonsynonymous SNV	exon17	c.C1655T	p.S552F	DVKDMLSRDRETSSIEPLPSDSPKE	DVKDMLSRDRETFSIEPLPSDSPKE	1.0	3.0	unscreened	-	3713_3:47284595-47284595 G>A_DVKDMLSRDRETFSIEPLPSDSPKE
22:19222139-19222139 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1535153;OCCURENCE=1(lung)	1	CLTCL1	ENST00000505027,p.R354C|ENST00000353891,p.R354C|uc021wle.1,p.R354C|uc021wlf.1,p.R354C|uc021wld.1,p.R354C|NM_001835,p.R354C|uc021wlc.1,p.R354C|NM_007098,p.R354C|uc011agw.1,p.R354C|ENST00000427926,p.R354C|ENST00000263200,p.R354C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wlf.1	nonsynonymous SNV	exon7	c.C1060T	p.R354C	LQNPDLGLRLAVRSNLAGAEKLFVR	LQNPDLGLRLAVCSNLAGAEKLFVR	4.0	1.0	unscreened	-	3713_22:19222139-19222139 G>A_LQNPDLGLRLAVCSNLAGAEKLFVR
21:39775497-39775497 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1205631;OCCURENCE=1(large_intestine)	1	ERG	ENST00000398919,p.D182N|ENST00000417133,p.D182N|uc002yxc.4,p.D182N|NM_182918,p.D175N|ENST00000398907,p.D175N|uc010gnw.3,p.D182N|ENST00000398911,p.D182N|uc002yxb.3,p.D182N|NM_004449,p.D182N|NM_001243432,p.D182N|ENST00000453032,p.D83N|ENST00000288319,p.D175N|ENST00000442448,p.D182N|uc002yxa.3,p.D175N|NM_001136155,p.D83N|NM_001243428,p.D182N|NM_001136154,p.D182N|uc010gnx.3,p.D182N|ENST00000398897,p.D83N|NM_001291391,p.D182N|NM_001243429,p.D83N|uc021wjd.1,p.D182N|uc010gnv.3,p.D83N|ENST00000398910,p.D182N|ENST00000398905,p.D175N|uc011ael.2,p.D182N|uc011aek.2,p.D83N	retained_intron, protein_coding, processed_transcript	uc021wjd.1	nonsynonymous SNV	exon6	c.G544A	p.D182N	IDGKELCKMTKDDFQRLTPSYNADI	IDGKELCKMTKDNFQRLTPSYNADI	2.0	2.0	unscreened	-	3713_21:39775497-39775497 C>T_IDGKELCKMTKDNFQRLTPSYNADI
7:100363005-100363005 C>T	0.0	3713	MELANOMA	-	-	-	-	ZAN	ENST00000542585,p.S1433F|uc003uwk.3,p.S1433F|uc003uwj.3,p.S1433F|ENST00000538115,p.S1433F|ENST00000546292,p.S1433F	protein_coding, polymorphic_pseudogene	uc003uwk.3	nonsynonymous SNV	exon23	c.C4298T	p.S1433F	FCPMACPPNSKYSLCAKPCPDTCHS	FCPMACPPNSKYFLCAKPCPDTCHS	1.0	1.0	unscreened	-	3713_7:100363005-100363005 C>T_FCPMACPPNSKYFLCAKPCPDTCHS
16:51174904-51174904 C>T	0.0	3713	MELANOMA	-	-	-	-	SALL1	uc021tie.1,p.G410E|ENST00000251020,p.G410E|NM_001127892,p.G313E|ENST00000570206,p.G313E|ENST00000440970,p.G313E|NM_002968,p.G410E|uc021tid.1,p.G313E|uc021tif.1,p.G313E	protein_coding, processed_transcript	uc021tif.1	nonsynonymous SNV	exon2	c.G938A	p.G313E	ANSVFPSPLPNIGTTAEDLNSLSAL	ANSVFPSPLPNIETTAEDLNSLSAL	1.0	2.0	unscreened	-	3713_16:51174904-51174904 C>T_ANSVFPSPLPNIETTAEDLNSLSAL
6:84270587-84270587 C>T	0.0	3713	MELANOMA	-	-	-	-	SNAP91	ENST00000437520,p.G534E|ENST00000523448,p.G182E|uc003pkd.3,p.G534E|uc021zcf.1,p.G841E|NM_014841,p.G841E|uc003pkb.3,p.G750E|NM_001256717,p.G750E|ENST00000521485,p.G836E|ENST00000369694,p.G841E|NM_001256718,p.G717E|ENST00000195649,p.G836E|uc003pkc.3,p.G811E|NM_001242793,p.G811E|ENST00000521743,p.G841E|ENST00000520302,p.G811E|NM_001242794,p.G534E|NM_001242792,p.G841E|ENST00000520213,p.G534E|ENST00000428679,p.G841E|ENST00000439399,p.G841E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zcf.1	nonsynonymous SNV	exon26	c.G2522A	p.G841E	GAPSVGQPGAGFGMPPAGTGMPMMP	GAPSVGQPGAGFEMPPAGTGMPMMP	1.0	5.0	unscreened	-	3713_6:84270587-84270587 C>T_GAPSVGQPGAGFEMPPAGTGMPMMP
10:28274042-28274042 C>T	0.0	3713	MELANOMA	-	-	-	-	ARMC4	ENST00000434029,p.D55N|uc009xky.3,p.D161N|NM_001290020,p.D161N|uc001itz.3,p.D161N|ENST00000239715,p.D18N|ENST00000305242,p.D161N|NM_018076,p.D161N	protein_coding, processed_transcript	uc009xky.3	nonsynonymous SNV	exon4	c.G481A	p.D161N	IALNILGKITRDDDPESEIKMKIAM	IALNILGKITRDNDPESEIKMKIAM	1.0	10.0	unscreened	-	3713_10:28274042-28274042 C>T_IALNILGKITRDNDPESEIKMKIAM
11:5323068-5323068 G>A	0.0	3713	MELANOMA	-	-	-	-	OR51B4	uc010qza.2,p.L37F|ENST00000380224,p.L37F|NM_033179,p.L37F	protein_coding	uc010qza.2	nonsynonymous SNV	exon1	c.C109T	p.L37F	ISMSFFVIYFSVLFGNGTLLVLIWN	ISMSFFVIYFSVFFGNGTLLVLIWN	1.0	7.0	unscreened	-	3713_11:5323068-5323068 G>A_ISMSFFVIYFSVFFGNGTLLVLIWN
1:153391726-153391726 G>A	0.0	3713	MELANOMA	0.0014	-	-	-	S100A7A	ENST00000368729,p.A83T|uc001fbt.1,p.A83T|NM_176823,p.A83T|ENST00000368728,p.A83T|ENST00000329256,p.A83T	protein_coding	uc001fbt.1	nonsynonymous SNV	exon3	c.G247A	p.A83T	DFSEFLSLLGDIAADYHKQSHGAAP	DFSEFLSLLGDITADYHKQSHGAAP	1.0	5.0	unscreened	-	3713_1:153391726-153391726 G>A_DFSEFLSLLGDITADYHKQSHGAAP
10:19820254-19820254 G>A	0.0	3713	MELANOMA	-	-	-	-	MALRD1	ENST00000454679,p.D1184N|NM_001142308,p.D1818N|ENST00000377266,p.D1197N	protein_coding, processed_transcript	NM_001142308	nonsynonymous SNV	exon32	c.G5452A	p.D1818N	GMCTVRFWFYMIDPRSMGILKVYTI	GMCTVRFWFYMINPRSMGILKVYTI	1.0	4.0	unscreened	-	3713_10:19820254-19820254 G>A_GMCTVRFWFYMINPRSMGILKVYTI
19:9056979-9056979 C>T	0.0	3713	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.G10156E|NM_024690,p.G10156E|uc002mkp.3,p.G10156E	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.G30467A	p.G10156E	ISTSMPANFETTGFEAEPFSHLTSG	ISTSMPANFETTEFEAEPFSHLTSG	1.0	3.0	unscreened	-	3713_19:9056979-9056979 C>T_ISTSMPANFETTEFEAEPFSHLTSG
6:109850173-109850173 G>A	0.0	3713	MELANOMA	-	-	-	-	AK9	uc011eat.1,p.S304F|ENST00000355283,p.S304F	retained_intron, protein_coding	uc011eat.1	nonsynonymous SNV	exon5	c.C911T	p.S304F	SSFVFFFKTGSHSVAQGRVQWHNHS	SSFVFFFKTGSHFVAQGRVQWHNHS	4.0	4.0	unscreened	-	3713_6:109850173-109850173 G>A_SSFVFFFKTGSHFVAQGRVQWHNHS
7:53103386-53103386 G>A	0.0	3713	MELANOMA	-	-	-	-	POM121L12	NM_182595,p.E8K|ENST00000408890,p.E8K|uc003tpz.3,p.E8K	protein_coding	uc003tpz.3	nonsynonymous SNV	exon1	c.G22A	p.E8K	MGAAAPAESADLGNFWKAGE	MGAAAPAKSADLGNFWKAGE	1.0	1.0	unscreened	-	3713_7:53103386-53103386 G>A_MGAAAPAKSADLGNFWKAGE
8:3855614-3855614 C>T	0.0	3713	MELANOMA	-	-	-	-	CSMD1	ENST00000537824,p.G210E|ENST00000542608,p.G210E|ENST00000602557,p.G210E|uc022aqr.1,p.G210E|NM_033225,p.G210E|ENST00000602723,p.G210E|ENST00000539096,p.G210E|ENST00000400186,p.G210E|ENST00000520002,p.G210E	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon5	c.G629A	p.G210E	PAPFCRAEGACGGTLRGTSSSISSP	PAPFCRAEGACGETLRGTSSSISSP	1.0	8.0	unscreened	-	3713_8:3855614-3855614 C>T_PAPFCRAEGACGETLRGTSSSISSP
11:5529537-5529537 C>T	0.0	3713	MELANOMA	-	-	-	-	UBQLN3	uc001may.1,p.E418K|NM_017481,p.E418K|uc021qcw.1,p.E418K|ENST00000311659,p.E418K	protein_coding	uc021qcw.1	nonsynonymous SNV	exon1	c.G1252A	p.E418K	RSSCPAFLRYPTENSTGQGGDQDGA	RSSCPAFLRYPTKNSTGQGGDQDGA	1.0	10.0	unscreened	-	3713_11:5529537-5529537 C>T_RSSCPAFLRYPTKNSTGQGGDQDGA
12:124885164-124885164 A>G	1.0	3713	MELANOMA	-	-	-	1	NCOR2	ENST00000356219,p.S566P|uc021rgc.1,p.S565P|NM_001206654,p.S565P|ENST00000458234,p.S566P|uc010tbb.2,p.S566P|ENST00000404121,p.S136P|ENST00000405201,p.S566P|ENST00000404621,p.S565P|uc001ugj.1,p.S566P|NM_001077261,p.S565P|ENST00000397355,p.S566P|uc010tba.2,p.S566P|uc010tbc.2,p.S565P|ENST00000429285,p.S565P|NM_006312,p.S566P	retained_intron, protein_coding	uc021rgc.1	nonsynonymous SNV	exon17	c.T1693C	p.S565P	SGEDNDEKEAVASKGRKTANSQGRR	SGEDNDEKEAVAPKGRKTANSQGRR	6.0	9.0	unscreened	-	3713_12:124885164-124885164 A>G_SGEDNDEKEAVAPKGRKTANSQGRR
2:173679124-173679124 G>A	0.0	3713	MELANOMA	-	-	-	-	RAPGEF4	uc010fqn.3,p.E122K	retained_intron, protein_coding, processed_transcript	uc010fqn.3	nonsynonymous SNV	exon4	c.G364A	p.E122K	IVTRESSELLRIEQKDFKALWEVSP	IVTRESSELLRIKQKDFKALWEVSP	1.0	6.0	unscreened	-	3713_2:173679124-173679124 G>A_IVTRESSELLRIKQKDFKALWEVSP
16:70917898-70917898 C>T	0.0	3713	MELANOMA	-	-	-	-	HYDIN	uc031qwy.1,p.D3302N|ENST00000393567,p.D3302N|NM_001270974,p.D3302N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon59	c.G9904A	p.D3302N	DAMGKCEEFIAIDISGRDPAVHPAG	DAMGKCEEFIAINISGRDPAVHPAG	1.0	8.0	unscreened	-	3713_16:70917898-70917898 C>T_DAMGKCEEFIAINISGRDPAVHPAG
4:183659601-183659601 G>A	0.0	3713	MELANOMA	-	-	-	-	TENM3	NM_001080477,p.E1095K|ENST00000511685,p.E1095K|uc003ivd.1,p.E1095K|uc003ive.1,p.E501K|ENST00000406950,p.E1095K	retained_intron, protein_coding, processed_transcript	uc003ive.1	nonsynonymous SNV	exon10	c.G1501A	p.E501K	YEYESCLDLTLWEKRTAILQGYELD	YEYESCLDLTLWKKRTAILQGYELD	2.0	9.0	unscreened	-	3713_4:183659601-183659601 G>A_YEYESCLDLTLWKKRTAILQGYELD
3:17051376-17051376 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1720044,COSM1720043;OCCURENCE=2(NS)	-	PLCL2	uc011awd.2,p.D54N|NM_015184,p.D54N|uc010het.1,p.D54N|ENST00000396755,p.D54N|ENST00000418129,p.D54N|ENST00000432376,p.D54N	protein_coding, processed_transcript	uc011awd.2	nonsynonymous SNV	exon2	c.G160A	p.D54N	DMQSLRWEPSKKDSEKAKIDIKSIK	DMQSLRWEPSKKNSEKAKIDIKSIK	4.0	10.0	unscreened	-	3713_3:17051376-17051376 G>A_DMQSLRWEPSKKNSEKAKIDIKSIK
1:34291361-34291361 C>T	0.0	3713	MELANOMA	-	-	-	-	CSMD2	NM_001281956,p.E350K|ENST00000373381,p.E350K|NM_052896,p.E310K|ENST00000241312,p.E310K|uc001bxm.1,p.E350K|uc001bxn.1,p.E310K	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxn.1	nonsynonymous SNV	exon7	c.G928A	p.E310K	GFSAQYQVKKQIELKSRGVKLMPSK	GFSAQYQVKKQIKLKSRGVKLMPSK	1.0	10.0	unscreened	-	3713_1:34291361-34291361 C>T_GFSAQYQVKKQIKLKSRGVKLMPSK
2:170537714-170537714 G>A	0.0	3713	MELANOMA	-	-	-	-	CCDC173	NM_001085447,p.L33F|uc002ufe.2,p.L33F|ENST00000447353,p.L33F	protein_coding	uc002ufe.2	nonsynonymous SNV	exon2	c.C97T	p.L33F	STEIRNSEEDQVLYLPLLPSKVDLQ	STEIRNSEEDQVFYLPLLPSKVDLQ	1.0	5.0	unscreened	-	3713_2:170537714-170537714 G>A_STEIRNSEEDQVFYLPLLPSKVDLQ
1:109391682-109391682 C>T	0.0	3713	MELANOMA	-	-	-	-	AKNAD1	NM_152763,p.G345E|ENST00000472781,p.G345E|ENST00000370001,p.G345E|ENST00000474186,p.G345E|uc001dwa.4,p.G345E|ENST00000369994,p.G345E|ENST00000369995,p.G345E|ENST00000357393,p.G52E|ENST00000461774,p.G345E|uc010ovb.3,p.G52E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ovb.3	nonsynonymous SNV	exon3	c.G155A	p.G52E	EPIVHIHQELLTGIESEASLSKLSP	EPIVHIHQELLTEIESEASLSKLSP	1.0	4.0	unscreened	-	3713_1:109391682-109391682 C>T_EPIVHIHQELLTEIESEASLSKLSP
1:175049361-175049361 G>A	0.0	3713	MELANOMA	-	-	-	-	TNN	uc010pmx.1,p.E283K|uc001gkl.1,p.E283K|ENST00000239462,p.E283K|NM_022093,p.E283K	protein_coding	uc010pmx.1	nonsynonymous SNV	exon3	c.G847A	p.E283K	LKNTEDSLLVSWEPSSQVDHYLLSY	LKNTEDSLLVSWKPSSQVDHYLLSY	1.0	3.0	unscreened	-	3713_1:175049361-175049361 G>A_LKNTEDSLLVSWKPSSQVDHYLLSY
11:1092926-1092926 C>G	0.0	3713	MELANOMA	-	-	-	-	MUC2	uc001lsx.1,p.T1582R|NM_002457,p.T1582R	protein_coding	uc001lsx.1	nonsynonymous SNV	exon31	c.C4745G	p.T1582R	TTPPPTTTPSPPTTTTPSPPTITTT	TTPPPTTTPSPPRTTTPSPPTITTT	1.0	1.0	unscreened	-	3713_11:1092926-1092926 C>G_TTPPPTTTPSPPRTTTPSPPTITTT
12:674547-674547 C>T	0.0	3713	MELANOMA	0.0005	-	-	-	NINJ2	ENST00000305108,p.V141I|NM_016533,p.V141I|ENST00000542920,p.V59I|uc001qil.3,p.V141I|ENST00000397265,p.V88I|NM_001294346,p.V59I|NM_001294345,p.V88I	protein_coding, processed_transcript	uc001qil.3	nonsynonymous SNV	exon3	c.G421A	p.V141I	LLVVIARLNLNEVEKQWRLNQLNNA	LLVVIARLNLNEIEKQWRLNQLNNA	2.0	6.0	unscreened	-	3713_12:674547-674547 C>T_LLVVIARLNLNEIEKQWRLNQLNNA
11:92532001-92532001 T>A	0.0	3713	MELANOMA	-	-	-	2	FAT3	uc001pdj.4,p.I1941K|ENST00000298047,p.I1941K|NM_001008781,p.I1941K|ENST00000525166,p.I1791K|ENST00000409404,p.I1941K	retained_intron, protein_coding, processed_transcript	uc001pdj.4	nonsynonymous SNV	exon9	c.T5822A	p.I1941K	HFLIDSNSGVLTIKNNNLSKDHYML	HFLIDSNSGVLTKKNNNLSKDHYML	1.0	10.0	unscreened	-	3713_11:92532001-92532001 T>A_HFLIDSNSGVLTKKNNNLSKDHYML
7:33767506-33767506 C>T	0.0	3713	MELANOMA	-	-	-	-	BBS9,BMPER	uc003tdu.3,p.P89S|ENST00000311067,p.P89S	protein_coding	uc003tdu.3	nonsynonymous SNV	exon2	c.C265T	p.P89S	ETGNSPAPPHPTPQALLVGVGQGEL	ETGNSPAPPHPTSQALLVGVGQGEL	1.0	5.0	unscreened	-	3713_7:33767506-33767506 C>T_ETGNSPAPPHPTSQALLVGVGQGEL
2:26538494-26538494 C>T	0.0	3713	MELANOMA	-	-	-	-	GPR113	ENST00000311519,p.G273E|NM_001145169,p.G204E|uc002rhe.4,p.G273E|NM_001145168,p.G273E|uc010yky.1,p.G204E|ENST00000421160,p.G204E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010yky.1	nonsynonymous SNV	exon5	c.G611A	p.G204E	EATNLSWFLRHPGSPSPILLQPGTQ	EATNLSWFLRHPESPSPILLQPGTQ	1.0	1.0	unscreened	-	3713_2:26538494-26538494 C>T_EATNLSWFLRHPESPSPILLQPGTQ
6:119283079-119283079 G>A	0.0	3713	MELANOMA	-	-	-	-	FAM184A	ENST00000352896,p.P894L|uc003pyl.4,p.P859L|NM_001288576,p.P859L|ENST00000521043,p.P191L|uc003pyk.4,p.P894L|ENST00000521531,p.P979L|ENST00000368475,p.P859L|NM_024581,p.P1063L|uc003pyj.3,p.P1063L|ENST00000338891,p.P1063L|NM_001100411,p.P894L	retained_intron, protein_coding, nonsense_mediated_decay	uc003pyl.4	nonsynonymous SNV	exon15	c.C2576T	p.P859L	NDKSPTNRFVSVPNLSALESGGVGN	NDKSPTNRFVSVLNLSALESGGVGN	2.0	7.0	unscreened	-	3713_6:119283079-119283079 G>A_NDKSPTNRFVSVLNLSALESGGVGN
16:88780635-88780635 ->GTGT	0.0	3713	MELANOMA	-	-	ID=COSM1479162,COSM1479163;OCCURENCE=4(breast)	-	CTU2	NM_001012759,p.R366fs|uc010chz.3,p.R437fs|uc002flm.3,p.R366fs|uc010cia.3,p.R279fs|ENST00000453996,p.R366fs|NM_001012762,p.R366fs|ENST00000312060,p.R366fs|uc002fln.3,p.R366fs|ENST00000567949,p.R437fs|ENST00000378384,p.R279fs	retained_intron, protein_coding, nonsense_mediated_decay	uc010cia.3	frameshift insertion	exon9	c.836_837insGTGT	p.R279fs	QTQFPSTVSTVYRTSEKLVKGPRDG	QTQFPSTVSTVYRCDK	5.0	1.0	unscreened	-	3713_16:88780635-88780635 ->GTGT_QTQFPSTVSTVYRCDK
20:33874595-33874595 C>T	0.0	3713	MELANOMA	-	-	-	-	FAM83C	uc002xcb.1,p.A318T|NM_178468,p.A663T|ENST00000374408,p.A663T|uc021wck.1,p.A663T	protein_coding	uc021wck.1	nonsynonymous SNV	exon4	c.G1987A	p.A663T	PNGLPISSPARTAGAGSGDEKRLTL	PNGLPISSPARTTGAGSGDEKRLTL	1.0	10.0	unscreened	-	3713_20:33874595-33874595 C>T_PNGLPISSPARTTGAGSGDEKRLTL
6:49700971-49700971 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1697359;OCCURENCE=1(skin)	-	CRISP3	uc021zai.1,p.G176E|uc003ozs.3,p.G166E|ENST00000433368,p.G176E|ENST00000263045,p.G166E|ENST00000423399,p.G63E|NM_006061,p.G166E|ENST00000393666,p.G153E|ENST00000371159,p.G184E|NM_001190986,p.G176E|ENST00000354620,p.G176E	protein_coding	uc021zai.1	nonsynonymous SNV	exon6	c.G527A	p.G176E	QVVWYSSYLVGCGNAYCPNQKVLKY	QVVWYSSYLVGCENAYCPNQKVLKY	1.0	3.0	unscreened	-	3713_6:49700971-49700971 C>T_QVVWYSSYLVGCENAYCPNQKVLKY
12:24989501-24989501 C>T	0.0	3713	MELANOMA	-	-	-	-	BCAT1	ENST00000261192,p.G283S|uc010six.2,p.G295S|NM_005504,p.G283S|ENST00000539780,p.G246S|ENST00000342945,p.G222S|uc001rge.4,p.G222S|NM_001178092,p.G222S|NM_001178093,p.G295S|uc010siy.2,p.G246S|uc001rgc.3,p.G282S|NM_001178091,p.G246S|ENST00000538118,p.G282S|ENST00000539282,p.G295S|NM_001178094,p.G282S|uc001rgd.4,p.G283S	protein_coding, processed_transcript	uc010siy.2	nonsynonymous SNV	exon7	c.G736A	p.G246S	DGEEELATPPLDGIILPGVTRRCIL	DGEEELATPPLDSIILPGVTRRCIL	5.0	6.0	unscreened	-	3713_12:24989501-24989501 C>T_DGEEELATPPLDSIILPGVTRRCIL
2:84949779-84949779 G>A	0.0	3713	MELANOMA	-	-	-	-	DNAH6	uc002sot.3,p.E34K|ENST00000237449,p.E3275K|NM_001370,p.E3275K|uc010fgb.3,p.E3275K|ENST00000389394,p.E3275K	retained_intron, protein_coding, processed_transcript	uc010fgb.3	nonsynonymous SNV	exon60	c.G9823A	p.E3275K	SKITSGAIKTRLEEAESTEQMINVA	SKITSGAIKTRLKEAESTEQMINVA	1.0	4.0	unscreened	-	3713_2:84949779-84949779 G>A_SKITSGAIKTRLKEAESTEQMINVA
7:100686080-100686080 C>T	0.0	3713	MELANOMA	-	-	-	-	MUC17	NM_001040105,p.P3795S|ENST00000379439,p.P3795S|uc003uxp.1,p.P3795S|ENST00000306151,p.P3795S	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.C11383T	p.P3795S	MSMTTASEGSSSPTTLEGTTTMPMS	MSMTTASEGSSSSTTLEGTTTMPMS	1.0	1.0	unscreened	-	3713_7:100686080-100686080 C>T_MSMTTASEGSSSSTTLEGTTTMPMS
1:89630420-89630420 C>T	0.0	3713	MELANOMA	-	-	-	-	GBP7	ENST00000294671,p.M104I|NM_207398,p.M104I|uc001dna.2,p.M104I	protein_coding	uc001dna.2	nonsynonymous SNV	exon3	c.G312A	p.M104I	TLILLDTEGLGDMEKSDPKSDSWIF	TLILLDTEGLGDIEKSDPKSDSWIF	1.0	10.0	unscreened	-	3713_1:89630420-89630420 C>T_TLILLDTEGLGDIEKSDPKSDSWIF
X:151909198-151909198 G>A	1.0	3713	MELANOMA	-	-	-	-	CSAG1	NM_153478,p.G76D|NM_001102576,p.G76D|ENST00000452779,p.G76D|ENST00000370287,p.G76D|uc004fgf.3,p.G76D|uc004fge.3,p.G76D	protein_coding, nonsense_mediated_decay	uc004fgf.3	nonsynonymous SNV	exon4	c.G227A	p.G76D	EKGPVKEVPGTKGSP	EKGPVKEVPGTKDSP	4.0	10.0	-	-	3713_X:151909198-151909198 G>A_EKGPVKEVPGTKDSP
11:92539549-92539549 C>T	0.0	3713	MELANOMA	-	-	-	2	FAT3	ENST00000409404,p.P3039S|uc001pdj.4,p.P3039S|NM_001008781,p.P3039S|ENST00000298047,p.P3039S|ENST00000525166,p.P2889S	retained_intron, protein_coding, processed_transcript	uc001pdj.4	nonsynonymous SNV	exon11	c.C9115T	p.P3039S	PVCDQVAYTALLPEDIPSNKIILKV	PVCDQVAYTALLSEDIPSNKIILKV	1.0	2.0	unscreened	-	3713_11:92539549-92539549 C>T_PVCDQVAYTALLSEDIPSNKIILKV
4:185940991-185940991 G>A	0.0	3713	MELANOMA	-	-	-	-	HELT	uc003ixa.3,p.E75K|uc011ckp.1,p.E19K|NM_001300782,p.E75K|ENST00000505610,p.E75K	retained_intron, protein_coding	uc011ckp.1	nonsynonymous SNV	exon2	c.G55A	p.E19K	RALHSADFPRGREKELLAEFANYFH	RALHSADFPRGRKKELLAEFANYFH	1.0	9.0	unscreened	-	3713_4:185940991-185940991 G>A_RALHSADFPRGRKKELLAEFANYFH
8:30703810-30703810 A>T	0.0	3713	MELANOMA	-	-	-	-	TEX15	ENST00000256246,p.N908K|NM_031271,p.N908K|uc003xil.3,p.N908K	protein_coding, processed_transcript	uc003xil.3	nonsynonymous SNV	exon1	c.T2724A	p.N908K	FTKSKTDYNDTKNKKEVESRISKRK	FTKSKTDYNDTKKKKEVESRISKRK	1.0	10.0	unscreened	-	3713_8:30703810-30703810 A>T_FTKSKTDYNDTKKKKEVESRISKRK
3:49898730-49898730 C>T	0.0	3713	MELANOMA	-	-	-	-	CAMKV	uc011bda.1,p.E106K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bda.1	nonsynonymous SNV	exon6	c.G316A	p.E106K	EYFIFLELNLKLENLVYYNRLKNSK	EYFIFLELNLKLKNLVYYNRLKNSK	1.0	4.0	unscreened	-	3713_3:49898730-49898730 C>T_EYFIFLELNLKLKNLVYYNRLKNSK
1:221054559-221054559 G>A	0.0	3713	MELANOMA	-	-	-	-	HLX	NM_021958,p.G206R|ENST00000366903,p.G206R|uc001hmv.4,p.G206R	protein_coding	uc001hmv.4	nonsynonymous SNV	exon2	c.G616A	p.G206R	NTLRDLTSLLTGGRPAGVHLSGLQP	NTLRDLTSLLTGRRPAGVHLSGLQP	1.0	4.0	unscreened	-	3713_1:221054559-221054559 G>A_NTLRDLTSLLTGRRPAGVHLSGLQP
7:122338165-122338165 G>A	0.0	3713	MELANOMA	0.0009	-	-	-	RNF133	ENST00000340112,p.R270C|uc003vkj.1,p.R270C|NM_139175,p.R270C	protein_coding	uc003vkj.1	nonsynonymous SNV	exon1	c.C808T	p.R270C	ICFERYKPNDIVRILTCKHFFHKNC	ICFERYKPNDIVCILTCKHFFHKNC	1.0	2.0	unscreened	-	3713_7:122338165-122338165 G>A_ICFERYKPNDIVCILTCKHFFHKNC
2:179457942-179457942 G>A	0.0	3713	MELANOMA	-	-	-	-	TTN	uc021vtb.2,p.P10600S|ENST00000591111,p.P18024S|ENST00000359218,p.P10725S|ENST00000342992,p.P17097S|ENST00000342175,p.P10792S|uc031rqd.1,p.P18024S|NM_133378,p.P17097S|NM_133432,p.P10725S|NM_003319,p.P10600S|NM_133437,p.P10792S|NM_001267550,p.P19665S|ENST00000589042,p.P19665S|NM_001256850,p.P18024S|uc021vsy.2,p.P17097S|uc031rqc.1,p.P19665S|uc021vta.2,p.P10725S|ENST00000460472,p.P10600S|uc021vsz.2,p.P10792S	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon249	c.C54070T	p.P18024S	RVSAENEIGIGDPSPPSKPVFAKDP	RVSAENEIGIGDSSPPSKPVFAKDP	1.0	10.0	unscreened	-	3713_2:179457942-179457942 G>A_RVSAENEIGIGDSSPPSKPVFAKDP
12:72388295-72388295 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1513187;OCCURENCE=1(lung)	-	TPH2	uc009zrw.1,p.G340S|NM_173353,p.G340S|ENST00000333850,p.G340S|uc001swy.2,p.G250S	protein_coding, processed_transcript, nonsense_mediated_decay	uc009zrw.1	nonsynonymous SNV	exon8	c.G1018A	p.G340S	ADPKFAQFSQEIGLASLGASDEDVQ	ADPKFAQFSQEISLASLGASDEDVQ	1.0	4.0	unscreened	-	3713_12:72388295-72388295 G>A_ADPKFAQFSQEISLASLGASDEDVQ
X:52677374-52677374 C>T	0.0	3713	MELANOMA	-	-	ID=COSM457709;OCCURENCE=1(breast)	-	SSX7	ENST00000298181,p.D135N|NM_173358,p.D135N|uc004dqx.1,p.D135N	protein_coding	uc004dqx.1	nonsynonymous SNV	exon6	c.G403A	p.D135N	SKGVPEASGSQNDGKHLCPPGKPST	SKGVPEASGSQNNGKHLCPPGKPST	1.0	10.0	unscreened	-	3713_X:52677374-52677374 C>T_SKGVPEASGSQNNGKHLCPPGKPST
5:146257753-146257753 C>T	0.0	3713	MELANOMA	-	-	-	-	PPP2R2B	ENST00000504565,p.D6N	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000504565	nonsynonymous SNV	exon3	c.G16A	p.D6N	MQNCSDHGAVPLAPLPPS	MQNCSNHGAVPLAPLPPS	2.0	8.0	unscreened	-	3713_5:146257753-146257753 C>T_MQNCSNHGAVPLAPLPPS
2:179465887-179465887 G>A	0.0	3713	MELANOMA	-	-	-	-	TTN	uc021vtb.2,p.P9517S|NM_003319,p.P9517S|uc021vsz.2,p.P9709S|ENST00000460472,p.P9517S|ENST00000342175,p.P9709S|ENST00000589042,p.P18582S|uc031rqc.1,p.P18582S|uc021vta.2,p.P9642S|uc021vsy.2,p.P16014S|NM_001267550,p.P18582S|NM_133432,p.P9642S|NM_001256850,p.P16941S|NM_133437,p.P9709S|NM_133378,p.P16014S|ENST00000359218,p.P9642S|ENST00000591111,p.P16941S|uc031rqd.1,p.P16941S|ENST00000342992,p.P16014S	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon238	c.C50821T	p.P16941S	RTTARDPIYPPDPPIKLKIGLITKN	RTTARDPIYPPDSPIKLKIGLITKN	1.0	5.0	unscreened	-	3713_2:179465887-179465887 G>A_RTTARDPIYPPDSPIKLKIGLITKN
18:23738183-23738183 C>T	0.0	3713	MELANOMA	-	-	-	-	PSMA8	uc002kvq.3,p.P157L|ENST00000415576,p.P151L|uc002kvp.3,p.P151L|uc002kvo.3,p.P113L|NM_144662,p.P157L|ENST00000308268,p.P157L|ENST00000343848,p.P113L|NM_001025096,p.P151L|uc002kvr.3,p.P125L|NM_001025097,p.P113L	protein_coding, nonsense_mediated_decay	uc002kvr.3	nonsynonymous SNV	exon5	c.C374T	p.P125L	DDDGISRLYQTDPSGTYHAWKANAI	DDDGISRLYQTDLSGTYHAWKANAI	1.0	2.0	unscreened	-	3713_18:23738183-23738183 C>T_DDDGISRLYQTDLSGTYHAWKANAI
3:17051295-17051295 C>T	0.0	3713	MELANOMA	-	-	-	-	PLCL2	ENST00000432376,p.R27C|ENST00000396755,p.R27C|uc011awd.2,p.R27C|ENST00000418129,p.R27C|uc010het.1,p.R27C|NM_015184,p.R27C	protein_coding, processed_transcript	uc011awd.2	nonsynonymous SNV	exon2	c.C79T	p.R27C	NSMVEGSELKKVRSNSRIYHRYFLL	NSMVEGSELKKVCSNSRIYHRYFLL	4.0	8.0	unscreened	-	3713_3:17051295-17051295 C>T_NSMVEGSELKKVCSNSRIYHRYFLL
11:60164061-60164061 A>G	0.0	3713	MELANOMA	-	-	-	-	MS4A14	ENST00000527841,p.T4A|NM_001261828,p.T4A|uc001npk.3,p.T4A|ENST00000531783,p.T4A|ENST00000526375,p.T4A|uc031qbd.1,p.T4A|NM_001079692,p.T4A|ENST00000300187,p.T4A|NM_001261827,p.T4A|uc001npj.3,p.T4A|ENST00000531949,p.T4A|NM_032597,p.T4A|uc031qbe.1,p.T4A|ENST00000525397,p.T4A|ENST00000395005,p.T4A|ENST00000530662,p.T4A	protein_coding, nonsense_mediated_decay	uc031qbe.1	nonsynonymous SNV	exon1	c.A10G	p.T4A	MESTSQDRRATHVITI	MESASQDRRATHVITI	4.0	10.0	unscreened	-	3713_11:60164061-60164061 A>G_MESASQDRRATHVITI
16:89017751-89017751 C>T	0.0	3713	MELANOMA	-	-	-	1	LOC100129697	ENST00000378347,p.P409S|NM_001290330,p.P409S	protein_coding	NM_001290330	nonsynonymous SNV	exon2	c.C1225T	p.P409S	ECWHLSSGSPSLPLFVE	ECWHLSSGSPSLSLFVE	1.0	1.0	unscreened	-	3713_16:89017751-89017751 C>T_ECWHLSSGSPSLSLFVE
1:152279012-152279012 C>T	1.0	3713	MELANOMA	-	-	-	-	FLG	uc001ezu.1,p.D2784N|ENST00000368799,p.D2784N|NM_002016,p.D2784N	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.G8350A	p.D2784N	DSSRHSASQDGQDTIRGHPGSSRGG	DSSRHSASQDGQNTIRGHPGSSRGG	1.0	2.0	unscreened	-	3713_1:152279012-152279012 C>T_DSSRHSASQDGQNTIRGHPGSSRGG
5:41199882-41199882 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1437618;OCCURENCE=3(skin),1(large_intestine)	-	C6	ENST00000337836,p.R145C|uc003jmk.3,p.R145C|NM_000065,p.R145C|ENST00000263413,p.R145C|uc003jml.2,p.R145C|NM_001115131,p.R145C	retained_intron, protein_coding, processed_transcript	uc003jml.2	nonsynonymous SNV	exon4	c.C433T	p.R145C	CKIEEADCKNKFRCDSGRCIARKLE	CKIEEADCKNKFCCDSGRCIARKLE	1.0	10.0	unscreened	-	3713_5:41199882-41199882 G>A_CKIEEADCKNKFCCDSGRCIARKLE
X:151817790-151817790 G>A	0.0	3713	MELANOMA	-	-	-	-	GABRQ	ENST00000370306,p.E202K|NM_018558,p.E202K|uc004ffp.1,p.E202K	protein_coding	uc004ffp.1	nonsynonymous SNV	exon5	c.G604A	p.E202K	FPMDKQACNLVVESYGYTVEDIILF	FPMDKQACNLVVKSYGYTVEDIILF	1.0	8.0	unscreened	-	3713_X:151817790-151817790 G>A_FPMDKQACNLVVKSYGYTVEDIILF
22:46795768-46795768 G>A	0.0	3713	MELANOMA	-	-	-	-	CELSR1	uc011arc.1,p.S74F|ENST00000262738,p.S1753F|uc003bhw.1,p.S1753F|NM_014246,p.S1753F	retained_intron, protein_coding, processed_transcript	uc011arc.1	nonsynonymous SNV	exon2	c.C221T	p.S74F	LQILNNYLQFEVSHGPSDVESVMLS	LQILNNYLQFEVFHGPSDVESVMLS	2.0	7.0	unscreened	-	3713_22:46795768-46795768 G>A_LQILNNYLQFEVFHGPSDVESVMLS
6:50016297-50016297 G>A	0.0	3713	MELANOMA	-	-	-	-	DEFB112	NM_001037498,p.S23F|uc011dws.2,p.S23F|ENST00000322246,p.S23F	protein_coding	uc011dws.2	nonsynonymous SNV	exon1	c.C68T	p.S23F	KLEKMYSKTNTSSTIFEKARHGTEK	KLEKMYSKTNTSFTIFEKARHGTEK	1.0	4.0	unscreened	-	3713_6:50016297-50016297 G>A_KLEKMYSKTNTSFTIFEKARHGTEK
X:16716378-16716378 G>A	0.0	3713	MELANOMA	-	-	-	-	CTPS2	uc004cxm.3,p.P140L|ENST00000380241,p.P140L|ENST00000443824,p.P140L|ENST00000359276,p.P140L|NM_001144002,p.P140L|uc004cxk.3,p.P140L|uc004cxl.3,p.P140L|NM_175859,p.P140L|NM_019857,p.P140L	protein_coding, processed_transcript	uc004cxm.3	nonsynonymous SNV	exon4	c.C419T	p.P140L	QAKVPVDGNKEEPQICVIELGGTIG	QAKVPVDGNKEELQICVIELGGTIG	2.0	6.0	unscreened	-	3713_X:16716378-16716378 G>A_QAKVPVDGNKEELQICVIELGGTIG
7:100658939-100658939 C>T	0.0	3713	MELANOMA	-	-	-	-	MUC12	ENST00000379442,p.P5425S|ENST00000536621,p.P5282S|NM_001164462,p.P5282S|uc003uxo.3,p.P5282S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon10	c.C15844T	p.P5282S	YDVPQEWRKEGTPGIFQKTAIWEDQ	YDVPQEWRKEGTSGIFQKTAIWEDQ	1.0	2.0	unscreened	-	3713_7:100658939-100658939 C>T_YDVPQEWRKEGTSGIFQKTAIWEDQ
2:27500791-27500791 G>A	0.0	3713	MELANOMA	-	-	-	-	DNAJC5G	ENST00000296097,p.D95N|ENST00000404433,p.D79N|uc002rjm.1,p.D95N|ENST00000402462,p.D95N|uc002rjl.1,p.D95N|NM_173650,p.D95N	retained_intron, protein_coding	uc002rjm.1	nonsynonymous SNV	exon4	c.G283A	p.D95N	AILSDSKKRKIYDQHGSLGIYLYDH	AILSDSKKRKIYNQHGSLGIYLYDH	1.0	5.0	unscreened	-	3713_2:27500791-27500791 G>A_AILSDSKKRKIYNQHGSLGIYLYDH
16:84270604-84270604 C>T	0.0	3713	MELANOMA	-	-	-	-	KCNG4	uc010voc.2,p.R163Q|ENST00000568181,p.R163Q|uc002fhu.1,p.R163Q|NM_172347,p.R163Q|ENST00000308251,p.R163Q	protein_coding	uc010voc.2	nonsynonymous SNV	exon2	c.G488A	p.R163Q	GIEEAHLERCCLRKLLRKLEELEEL	GIEEAHLERCCLQKLLRKLEELEEL	1.0	1.0	unscreened	-	3713_16:84270604-84270604 C>T_GIEEAHLERCCLQKLLRKLEELEEL
12:4705427-4705427 T>G	0.0	3713	MELANOMA	-	-	-	-	DYRK4	uc009zeh.1,p.L247R|ENST00000010132,p.L132R|uc001qmy.2,p.L132R|ENST00000542744,p.L247R|ENST00000543431,p.L132R|ENST00000540757,p.L132R|NM_003845,p.L132R|uc001qmx.3,p.L132R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zeh.1	nonsynonymous SNV	exon7	c.T740G	p.L247R	KCLDHKNNELVALKIIRNKKRFHQQ	KCLDHKNNELVARKIIRNKKRFHQQ	5.0	9.0	-	-	3713_12:4705427-4705427 T>G_KCLDHKNNELVARKIIRNKKRFHQQ
17:48456544-48456544 G>A	1.0	3713	MELANOMA	-	-	-	-	EME1	uc010dbp.2,p.A410T|ENST00000511648,p.A410T|ENST00000338165,p.A397T|NM_001166131,p.A410T|ENST00000393271,p.A410T|uc002iqs.2,p.A397T|NM_152463,p.A397T	retained_intron, protein_coding, nonsense_mediated_decay	uc010dbp.2	nonsynonymous SNV	exon6	c.G1228A	p.A410T	KQTKKQQQRQPEASIGSMVSRVDAE	KQTKKQQQRQPETSIGSMVSRVDAE	5.0	3.0	-	-	3713_17:48456544-48456544 G>A_KQTKKQQQRQPETSIGSMVSRVDAE
6:30123504-30123504 C>T	0.0	3713	MELANOMA	-	-	-	-	TRIM10	uc003npo.3,p.A310T|ENST00000449742,p.A310T|uc003npn.2,p.A310T|NM_052828,p.A310T|NM_006778,p.A310T|ENST00000376704,p.A310T	protein_coding	uc003npo.3	nonsynonymous SNV	exon6	c.G928A	p.A310T	LEKLCFELDYEPAHISLDPQTSHPK	LEKLCFELDYEPTHISLDPQTSHPK	1.0	9.0	unscreened	-	3713_6:30123504-30123504 C>T_LEKLCFELDYEPTHISLDPQTSHPK
3:120760555-120760555 G>A	0.0	3713	MELANOMA	-	-	-	-	STXBP5L	ENST00000472879,p.R99K|ENST00000273666,p.R99K|NM_014980,p.R99K|ENST00000497029,p.R99K|uc011bji.2,p.R99K|ENST00000471454,p.R99K|ENST00000471262,p.R99K|ENST00000495504,p.R99K|ENST00000492541,p.R99K|uc003eec.4,p.R99K	protein_coding, nonsense_mediated_decay	uc011bji.2	nonsynonymous SNV	exon4	c.G296A	p.R99K	IGTRTGAIRILGRPGVDCYCQHESG	IGTRTGAIRILGKPGVDCYCQHESG	1.0	2.0	unscreened	-	3713_3:120760555-120760555 G>A_IGTRTGAIRILGKPGVDCYCQHESG
20:57769573-57769573 C>T	0.0	3713	MELANOMA	-	-	-	-	ZNF831	uc002yan.3,p.P1167S|ENST00000371030,p.P1167S|NM_178457,p.P1167S	protein_coding	uc002yan.3	nonsynonymous SNV	exon1	c.C3499T	p.P1167S	HSGTSRSHSTRSPHSTQNPFPSLKA	HSGTSRSHSTRSSHSTQNPFPSLKA	3.0	8.0	unscreened	-	3713_20:57769573-57769573 C>T_HSGTSRSHSTRSSHSTQNPFPSLKA
1:20640924-20640924 C>T	0.0	3713	MELANOMA	-	-	-	-	VWA5B1	ENST00000485375,p.H116Y	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000485375	nonsynonymous SNV	exon4	c.C346T	p.H116Y	FGADPVRGQPGDHCPHGECHHLHQH	FGADPVRGQPGDYCPHGECHHLHQH	1.0	10.0	unscreened	-	3713_1:20640924-20640924 C>T_FGADPVRGQPGDYCPHGECHHLHQH
7:26192362-26192362 G>A	1.0	3713	MELANOMA	-	-	-	-	NFE2L3	ENST00000056233,p.D82N|uc003sxq.3,p.D82N|NM_004289,p.D82N	protein_coding	uc003sxq.3	nonsynonymous SNV	exon1	c.G244A	p.D82N	RAGHLHPKGRELDPAAPPEGQLLRE	RAGHLHPKGRELNPAAPPEGQLLRE	6.0	2.0	unscreened	-	3713_7:26192362-26192362 G>A_RAGHLHPKGRELNPAAPPEGQLLRE
7:82784668-82784668 G>A	0.0	3713	MELANOMA	-	-	-	-	PCLO	NM_033026,p.P430L|NM_014510,p.P430L|uc003uhx.2,p.P430L|uc003uhv.2,p.P430L|ENST00000423517,p.P430L|ENST00000333891,p.P430L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon2	c.C1289T	p.P430L	PKPLAQQPGLQSPAKAPGPTKTPVQ	PKPLAQQPGLQSLAKAPGPTKTPVQ	2.0	1.0	unscreened	-	3713_7:82784668-82784668 G>A_PKPLAQQPGLQSLAKAPGPTKTPVQ
5:156655340-156655340 G>A	0.0	3713	MELANOMA	-	-	-	1	ITK	ENST00000422843,p.E228K|NM_005546,p.E228K|uc003lwo.1,p.E228K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003lwo.1	nonsynonymous SNV	exon7	c.G682A	p.E228K	GHEGYVPSSYLVEKSPNNLETYEWY	GHEGYVPSSYLVKKSPNNLETYEWY	6.0	6.0	unscreened	-	3713_5:156655340-156655340 G>A_GHEGYVPSSYLVKKSPNNLETYEWY
10:22675700-22675700 G>A	0.0	3713	MELANOMA	-	-	-	-	SPAG6	uc009xkh.3,p.V142M|NM_172242,p.V164M|ENST00000376603,p.V240M|NM_001253854,p.V139M|ENST00000376624,p.V164M|uc001irj.3,p.V164M|NM_001253855,p.V142M|uc001iri.3,p.V164M|ENST00000538630,p.V139M|NM_012443,p.V164M|ENST00000313311,p.V164M|uc010qct.2,p.V139M	protein_coding, processed_transcript	uc010qct.2	nonsynonymous SNV	exon8	c.G415A	p.V139M	IARHNAELSQAVVDAGAVPLLVLCI	IARHNAELSQAVMDAGAVPLLVLCI	1.0	6.0	unscreened	-	3713_10:22675700-22675700 G>A_IARHNAELSQAVMDAGAVPLLVLCI
6:159653516-159653516 C>T	0.0	3713	MELANOMA	-	-	-	-	FNDC1	ENST00000340366,p.H595Y|NM_032532,p.H658Y|uc010kjv.3,p.H658Y|ENST00000297267,p.H658Y|uc010kjw.1,p.H543Y	protein_coding, processed_transcript	uc010kjw.1	nonsynonymous SNV	exon9	c.C1627T	p.H543Y	DSDEDERAVGSLHPKGAFAQPRPAL	DSDEDERAVGSLYPKGAFAQPRPAL	1.0	8.0	unscreened	-	3713_6:159653516-159653516 C>T_DSDEDERAVGSLYPKGAFAQPRPAL
22:37891969-37891969 C>T	0.0	3713	MELANOMA	-	-	-	-	CARD10	ENST00000406271,p.G415R|uc003asw.1,p.G415R|ENST00000437756,p.G342R|NM_014550,p.G701R|uc011ank.1,p.G19R|ENST00000403299,p.G701R|uc003asx.1,p.G701R|ENST00000251973,p.G701R|ENST00000433485,p.G173R|uc003asy.1,p.G701R	retained_intron, protein_coding, processed_transcript	uc011ank.1	nonsynonymous SNV	exon2	c.G55A	p.G19R	QSFHEALEAWAKGPGAEPFYIRANL	QSFHEALEAWAKRPGAEPFYIRANL	2.0	1.0	unscreened	-	3713_22:37891969-37891969 C>T_QSFHEALEAWAKRPGAEPFYIRANL
X:114425349-114425349 G>A	0.0	3713	MELANOMA	-	-	-	-	RBMXL3	ENST00000424776,p.D449N|uc011mte.1,p.D449N|NM_001145346,p.D449N	protein_coding	uc011mte.1	nonsynonymous SNV	exon1	c.G1345A	p.D449N	GRSTDAHSRGRSDDAYSGGHDSSSW	GRSTDAHSRGRSNDAYSGGHDSSSW	1.0	10.0	unscreened	-	3713_X:114425349-114425349 G>A_GRSTDAHSRGRSNDAYSGGHDSSSW
1:144220837-144220837 C>T	0.0	3713	MELANOMA	-	-	-	-	NBPF20	uc021otv.1,p.S281L|ENST00000369373,p.S35L|uc001ekk.2,p.S281L|uc021otu.1,p.S281L|uc010oyd.2,p.S37L|uc021otp.1,p.S525L|NM_001278267,p.S1559L|uc010oxn.2,p.S608L|uc021oto.2,p.S525L	protein_coding	uc021otv.1	nonsynonymous SNV	exon13	c.C842T	p.S281L	LLDEKEPEVLQDSLDRCYSTPSGYL	LLDEKEPEVLQDLLDRCYSTPSGYL	4.0	1.0	unscreened	-	3713_1:144220837-144220837 C>T_LLDEKEPEVLQDLLDRCYSTPSGYL
15:54305411-54305411 A>G	0.0	3713	MELANOMA	-	-	-	-	UNC13C	uc021smr.1,p.K104R|NM_001080534,p.K104R|ENST00000537900,p.K104R|uc021sms.1,p.K104R|ENST00000545554,p.K104R|ENST00000260323,p.K104R	retained_intron, protein_coding	uc021sms.1	nonsynonymous SNV	exon1	c.A311G	p.K104R	FSYRVAIANGLQKNAKVTNSDNEDL	FSYRVAIANGLQRNAKVTNSDNEDL	1.0	1.0	unscreened	-	3713_15:54305411-54305411 A>G_FSYRVAIANGLQRNAKVTNSDNEDL
X:110366487-110366487 C>G	1.0	3713	MELANOMA	-	-	-	-	PAK3	uc010npt.1,p.F52L|NM_001128172,p.F52L|uc010npv.1,p.F52L|NM_001128168,p.F52L|uc010npw.1,p.F52L|ENST00000372010,p.F52L|ENST00000518291,p.F52L|uc004eoz.2,p.F52L|uc010npu.1,p.F52L|uc004epa.2,p.F52L|ENST00000425146,p.F52L|ENST00000262836,p.F52L|NM_001128173,p.F52L|ENST00000372007,p.F52L|ENST00000519681,p.F52L|NM_001128167,p.F52L|ENST00000417227,p.F52L|ENST00000429193,p.F52L|NM_002578,p.F52L|NM_001128166,p.F52L|ENST00000360648,p.F52L|ENST00000446737,p.F52L	protein_coding, processed_transcript	uc010npw.1	nonsynonymous SNV	exon1	c.C156G	p.F52L	EEKNKKARLRSIFPGGGDKTNKKKE	EEKNKKARLRSILPGGGDKTNKKKE	1.0	10.0	unscreened	-	3713_X:110366487-110366487 C>G_EEKNKKARLRSILPGGGDKTNKKKE
2:166897931-166897931 G>A	0.0	3713	MELANOMA	-	-	-	-	SCN1A	NM_001202435,p.S742F|ENST00000409050,p.S714F|ENST00000303395,p.S742F|NM_006920,p.S731F|NM_001165963,p.S742F|uc010fpk.3,p.S714F|ENST00000423058,p.S742F|ENST00000375405,p.S731F|NM_001165964,p.S714F|uc021vsb.1,p.S731F|uc002udo.4,p.S742F	retained_intron, protein_coding	uc021vsb.1	nonsynonymous SNV	exon13	c.C2192T	p.S731F	SRQKCPPCWYKFSNIFLIWDCSPYW	SRQKCPPCWYKFFNIFLIWDCSPYW	1.0	4.0	unscreened	-	3713_2:166897931-166897931 G>A_SRQKCPPCWYKFFNIFLIWDCSPYW
19:57286283-57286283 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1001965;OCCURENCE=1(endometrium),1(large_intestine)	-	ZIM2	uc010ygq.1,p.R249C|ENST00000601070,p.R453C|ENST00000599935,p.R453C|NM_001146327,p.R453C|NM_015363,p.R453C|uc010ygs.1,p.R453C|ENST00000593711,p.R453C|uc010ygr.1,p.R249C|NM_001146326,p.R453C|uc010etp.2,p.R453C|uc002qnq.2,p.R453C|ENST00000391708,p.R453C|uc002qnr.2,p.R453C|ENST00000221722,p.R453C	retained_intron, protein_coding, nonsense_mediated_decay	uc010ygs.1	nonsynonymous SNV	exon11	c.C1357T	p.R453C	PPGLSHSKTYLIRYQRKHDYVGERA	PPGLSHSKTYLICYQRKHDYVGERA	1.0	6.0	unscreened	-	3713_19:57286283-57286283 G>A_PPGLSHSKTYLICYQRKHDYVGERA
2:85035628-85035628 G>A	0.0	3713	MELANOMA	-	-	-	-	DNAH6	ENST00000237449,p.E3901K|uc010fgb.3,p.E3901K|ENST00000389394,p.E3901K|NM_001370,p.E3901K	retained_intron, protein_coding, processed_transcript	uc010fgb.3	nonsynonymous SNV	exon72	c.G11701A	p.E3901K	GRLNSLTTVLGQEVDRFNNLLKLIH	GRLNSLTTVLGQKVDRFNNLLKLIH	1.0	3.0	unscreened	-	3713_2:85035628-85035628 G>A_GRLNSLTTVLGQKVDRFNNLLKLIH
12:40619019-40619019 G>C	0.0	3713	MELANOMA	-	-	-	-	LRRK2	uc001rmg.4,p.G29A|ENST00000343742,p.G29A|ENST00000298910,p.G29A|NM_198578,p.G29A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rmg.4	nonsynonymous SNV	exon1	c.G86C	p.G29A	KKLIVRLNNVQEGKQIETLVQILED	KKLIVRLNNVQEAKQIETLVQILED	4.0	4.0	unscreened	-	3713_12:40619019-40619019 G>C_KKLIVRLNNVQEAKQIETLVQILED
2:179485625-179485625 C>T	0.0	3713	MELANOMA	-	-	-	-	TTN	uc021vsz.2,p.A6365T|NM_001256850,p.A13597T|ENST00000460472,p.A6173T|NM_003319,p.A6173T|uc021vta.2,p.A6298T|ENST00000589042,p.A15238T|ENST00000342992,p.A12670T|NM_133432,p.A6298T|uc021vtb.2,p.A6173T|NM_001267550,p.A15238T|ENST00000591111,p.A13597T|NM_133378,p.A12670T|uc021vsy.2,p.A12670T|uc031rqd.1,p.A13597T|ENST00000359218,p.A6298T|NM_133437,p.A6365T|uc031rqc.1,p.A15238T|ENST00000342175,p.A6365T	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon197	c.G40789A	p.A13597T	VFNCEVNTEGAKAKWFRNEEAIFDS	VFNCEVNTEGAKTKWFRNEEAIFDS	1.0	7.0	unscreened	-	3713_2:179485625-179485625 C>T_VFNCEVNTEGAKTKWFRNEEAIFDS
2:99013549-99013549 C>T	0.0	3713	MELANOMA	-	-	-	-	CNGA3	ENST00000409937,p.T643I|ENST00000393504,p.T639I|ENST00000436404,p.T621I|ENST00000272602,p.T639I|uc002syt.3,p.T639I|uc010fij.3,p.T643I|NM_001298,p.T639I|uc002syu.3,p.T621I|NM_001079878,p.T621I	retained_intron, protein_coding	uc010fij.3	nonsynonymous SNV	exon8	c.C1928T	p.T643I	EEKVEQLGSSLDTLQTRFARLLAEY	EEKVEQLGSSLDILQTRFARLLAEY	1.0	8.0	unscreened	-	3713_2:99013549-99013549 C>T_EEKVEQLGSSLDILQTRFARLLAEY
19:3449071-3449071 C>T	1.0	3713	MELANOMA	-	-	-	-	NFIC	uc010xhj.2,p.P340S|ENST00000346156,p.P307S|ENST00000443272,p.P340S|NM_001245002,p.P340S|uc010xhi.2,p.P340S|NM_001245004,p.P340S|NM_001245005,p.P331S|uc002lxp.3,p.P340S|ENST00000589123,p.P331S|uc010xhh.2,p.P331S|ENST00000341919,p.P340S|ENST00000586919,p.P307S|NM_205843,p.P331S|NM_005597,p.P340S|ENST00000395111,p.P331S|uc002lxo.3,p.P331S|ENST00000590282,p.P340S	retained_intron, protein_coding, processed_transcript	uc010xhj.2	nonsynonymous SNV	exon7	c.C1018T	p.P340S	TEMDKSPFNSPSPQDSPRLSSFTQH	TEMDKSPFNSPSSQDSPRLSSFTQH	7.0	4.0	-	-	3713_19:3449071-3449071 C>T_TEMDKSPFNSPSSQDSPRLSSFTQH
4:40752775-40752775 T>G	0.0	3713	MELANOMA	-	-	-	-	NSUN7	uc003gvi.4,p.L22R|ENST00000381782,p.L22R|uc003gvj.4,p.L22R|NM_024677,p.L22R|uc003gvh.2,p.L22R|ENST00000316607,p.L22R	retained_intron, protein_coding, processed_transcript	uc003gvj.4	nonsynonymous SNV	exon2	c.T65G	p.L22R	FSNEEDPEIISQLTSLPLSGGKSSA	FSNEEDPEIISQRTSLPLSGGKSSA	1.0	7.0	unscreened	-	3713_4:40752775-40752775 T>G_FSNEEDPEIISQRTSLPLSGGKSSA
16:88499819-88499819 G>A	0.0	3713	MELANOMA	-	-	-	-	ZNF469	NM_001127464,p.G1953R|ENST00000565624,p.G1981R|uc002fku.2,p.G1953R|ENST00000437464,p.G1953R	protein_coding	uc002fku.2	nonsynonymous SNV	exon2	c.G5857A	p.G1953R	AVAGHQLGLEADGHWGLLGQAEKTQ	AVAGHQLGLEADRHWGLLGQAEKTQ	2.0	2.0	unscreened	-	3713_16:88499819-88499819 G>A_AVAGHQLGLEADRHWGLLGQAEKTQ
15:68123212-68123212 G>A	1.0	3713	MELANOMA	-	-	-	-	SKOR1	ENST00000380035,p.E858K|ENST00000554240,p.E819K|ENST00000341418,p.E761K|uc031qsn.1,p.E761K|ENST00000389002,p.E814K|NM_001258024,p.E761K|ENST00000554054,p.E830K	protein_coding	uc031qsn.1	nonsynonymous SNV	exon11	c.G2281A	p.E761K	DVTGTHLVEKDIENLAREELQKLLL	DVTGTHLVEKDIKNLAREELQKLLL	1.0	1.0	unscreened	-	3713_15:68123212-68123212 G>A_DVTGTHLVEKDIKNLAREELQKLLL
4:36162082-36162082 T>C	0.0	3713	MELANOMA	-	-	-	-	ARAP2	NM_015230,p.K814R|ENST00000303965,p.K814R|uc003gsq.2,p.K814R	retained_intron, protein_coding, processed_transcript	uc003gsq.2	nonsynonymous SNV	exon13	c.A2441G	p.K814R	TLLASLTKEELNKALCAAVVKPDVL	TLLASLTKEELNRALCAAVVKPDVL	4.0	9.0	unscreened	-	3713_4:36162082-36162082 T>C_TLLASLTKEELNRALCAAVVKPDVL
8:97157543-97157543 C>T	0.0	3713	MELANOMA	-	-	-	-	GDF6	ENST00000287020,p.G206R|NM_001001557,p.G206R|uc003yhp.3,p.G206R	protein_coding	uc003yhp.3	nonsynonymous SNV	exon2	c.G616A	p.G206R	PLLLDARTLDPQGAPPAGWEVFDVW	PLLLDARTLDPQRAPPAGWEVFDVW	1.0	2.0	unscreened	-	3713_8:97157543-97157543 C>T_PLLLDARTLDPQRAPPAGWEVFDVW
11:1092926-1092926 C>G	0.0	3713	MELANOMA	-	-	-	-	MUC2	ENST00000359061,p.T1583R	protein_coding	ENST00000359061	nonsynonymous SNV	exon30	c.C4748G	p.T1583R	TPTPTPTGTQTPTSTPITTTTTTPT	TPTPTPTGTQTPRSTPITTTTTTPT	1.0	1.0	unscreened	-	3713_11:1092926-1092926 C>G_TPTPTPTGTQTPRSTPITTTTTTPT
9:116346363-116346363 G>A	0.0	3713	MELANOMA	-	-	-	-	RGS3	uc004bhz.4,p.G233R|uc004bhv.4,p.G212R|NM_001276260,p.G212R|uc004bhs.4,p.G765R|ENST00000350696,p.G891R|NM_001282922,p.G212R|uc011lxh.3,p.G212R|uc010muz.2,p.G230R|ENST00000374134,p.G212R|ENST00000343817,p.G610R|NM_001282923,p.G781R|uc031teu.1,p.G201R|NM_130795,p.G610R|ENST00000374140,p.G891R|uc004bhy.1,p.G201R|NM_144488,p.G891R|uc004bht.4,p.G610R|uc004bhq.4,p.G891R|ENST00000462143,p.G212R	retained_intron, protein_coding, processed_transcript	uc031teu.1	nonsynonymous SNV	exon3	c.G601A	p.G201R	EEDAEEAEEVEEGEEGEEDEDEDTS	EEDAEEAEEVEEREEGEEDEDEDTS	7.0	9.0	unscreened	-	3713_9:116346363-116346363 G>A_EEDAEEAEEVEEREEGEEDEDEDTS
2:188216990-188216990 C>T	0.0	3713	MELANOMA	-	-	-	-	CALCRL	uc002upv.5,p.E327K|NM_001271751,p.E327K|ENST00000410068,p.E327K|ENST00000392370,p.E327K|ENST00000409998,p.E327K|NM_005795,p.E327K|uc010frt.4,p.E327K	retained_intron, protein_coding, processed_transcript	uc010frt.4	nonsynonymous SNV	exon12	c.G979A	p.E327K	VLITKLKVTHQAESNLYMKAVRATL	VLITKLKVTHQAKSNLYMKAVRATL	3.0	3.0	unscreened	-	3713_2:188216990-188216990 C>T_VLITKLKVTHQAKSNLYMKAVRATL
2:215440510-215440510 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1565104;OCCURENCE=1(large_intestine)	-	VWC2L	ENST00000312504,p.S212L|uc002vet.2,p.S212L|NM_001080500,p.S212L	retained_intron, protein_coding	uc002vet.2	nonsynonymous SNV	exon4	c.C635T	p.S212L	CHNGDWWKPAQCSKRECQGKQTV	CHNGDWWKPAQCLKRECQGKQTV	1.0	10.0	unscreened	-	3713_2:215440510-215440510 C>T_CHNGDWWKPAQCLKRECQGKQTV
3:44488554-44488554 C>A	1.0	3713	MELANOMA	-	-	-	-	ZNF445	uc011azv.1,p.C858F|ENST00000396077,p.C870F|uc003cnf.2,p.C870F|NM_181489,p.C870F|uc011azw.1,p.C870F|ENST00000425708,p.C870F	retained_intron, protein_coding	uc011azw.1	nonsynonymous SNV	exon7	c.G2609T	p.C870F	HKGIHSGEKRYKCNLCGKSYDRNYR	HKGIHSGEKRYKFNLCGKSYDRNYR	3.0	7.0	unscreened	-	3713_3:44488554-44488554 C>A_HKGIHSGEKRYKFNLCGKSYDRNYR
6:54185413-54185413 C>T	0.0	3713	MELANOMA	-	-	-	-	TINAG	ENST00000370869,p.S127L|uc003pcj.2,p.S131L|ENST00000259782,p.S131L|NM_014464,p.S131L|ENST00000370864,p.S113L	protein_coding, processed_transcript	uc003pcj.2	nonsynonymous SNV	exon2	c.C392T	p.S131L	GCFKDGQHYEEGSVIKENCNSCTCS	GCFKDGQHYEEGLVIKENCNSCTCS	1.0	1.0	unscreened	-	3713_6:54185413-54185413 C>T_GCFKDGQHYEEGLVIKENCNSCTCS
3:128780706-128780706 G>A	0.0	3713	MELANOMA	-	-	-	-	GP9	ENST00000307395,p.G42R|NM_000174,p.G42R|uc021xdn.1,p.G42R|uc003elm.2,p.G42R	protein_coding	uc021xdn.1	nonsynonymous SNV	exon1	c.G124A	p.G42R	ETMGLWVDCRGHGLTALPALPARTR	ETMGLWVDCRGHRLTALPALPARTR	1.0	7.0	unscreened	-	3713_3:128780706-128780706 G>A_ETMGLWVDCRGHRLTALPALPARTR
3:36756926-36756926 C>T	0.0	3713	MELANOMA	-	-	-	-	DCLK3	uc003cgi.2,p.E614K|ENST00000416516,p.E614K|NM_033403,p.E614K	protein_coding, processed_transcript	uc003cgi.2	nonsynonymous SNV	exon5	c.G1840A	p.E614K	YTAHQVLQHPWIETAGKTNTVKRQK	YTAHQVLQHPWIKTAGKTNTVKRQK	1.0	3.0	unscreened	-	3713_3:36756926-36756926 C>T_YTAHQVLQHPWIKTAGKTNTVKRQK
2:179197394-179197394 C>A	1.0	3713	MELANOMA	-	-	-	-	OSBPL6	NM_032523,p.S133R|ENST00000359685,p.S133R|ENST00000409045,p.S133R|uc002ulw.3,p.S133R|NM_001201481,p.S133R|uc002ulx.3,p.S133R|uc002ulz.3,p.S133R|NM_001201482,p.S133R|ENST00000392505,p.S133R|NM_001201480,p.S133R|ENST00000315022,p.S112R|ENST00000357080,p.S133R|NM_145739,p.S112R|uc002uly.3,p.S133R|uc002uma.3,p.S112R|ENST00000409631,p.S133R|uc010zfe.2,p.S133R|ENST00000190611,p.S133R	protein_coding, processed_transcript	uc010zfe.2	nonsynonymous SNV	exon7	c.C399A	p.S133R	APLDIQKGKVHGSIDVGLSVMSIKK	APLDIQKGKVHGRIDVGLSVMSIKK	2.0	4.0	unscreened	-	3713_2:179197394-179197394 C>A_APLDIQKGKVHGRIDVGLSVMSIKK
12:43822246-43822246 G>A	0.0	3713	MELANOMA	-	-	-	-	ADAMTS20	uc001rno.1,p.P366L|uc010skx.2,p.P1248L|uc001rnp.1,p.P402L|ENST00000549670,p.P378L|ENST00000389420,p.P1248L|NM_025003,p.P1248L|ENST00000553158,p.P1248L|ENST00000395541,p.P366L	protein_coding	uc010skx.2	nonsynonymous SNV	exon26	c.C3743T	p.P1248L	NYHQPIDENYCDPEVRPLMEQECSL	NYHQPIDENYCDLEVRPLMEQECSL	1.0	3.0	unscreened	-	3713_12:43822246-43822246 G>A_NYHQPIDENYCDLEVRPLMEQECSL
1:175372603-175372603 C>T	0.0	3713	MELANOMA	-	-	-	-	TNR	uc009wwu.1,p.G217S|uc010pmz.1,p.G217S|NM_003285,p.G217S|uc001gkp.1,p.G217S|ENST00000367674,p.G217S|ENST00000263525,p.G217S	protein_coding	uc010pmz.1	nonsynonymous SNV	exon4	c.G649A	p.G217S	PLGCSSRGVCVDGQCICDSEYSGDD	PLGCSSRGVCVDSQCICDSEYSGDD	1.0	2.0	unscreened	-	3713_1:175372603-175372603 C>T_PLGCSSRGVCVDSQCICDSEYSGDD
7:140219438-140219438 C>T	0.0	3713	MELANOMA	-	-	-	-	DENND2A	ENST00000496613,p.G998R|uc010lnj.3,p.G998R|ENST00000275884,p.G998R|ENST00000537639,p.G998R|uc010lnk.3,p.G998R|NM_015689,p.G998R|uc003vvw.3,p.G998R	protein_coding, nonsense_mediated_decay	uc010lnk.3	nonsynonymous SNV	exon19	c.G2992A	p.G998R	SGEHSGVNKFLKGLGNKMKFLHKK	SGEHSGVNKFLKRLGNKMKFLHKK	4.0	1.0	unscreened	-	3713_7:140219438-140219438 C>T_SGEHSGVNKFLKRLGNKMKFLHKK
X:52825638-52825638 C>T	0.0	3713	MELANOMA	-	-	ID=COSM277438;OCCURENCE=1(large_intestine)	-	SPANXN5	NM_001009616,p.E37K|uc004drc.1,p.E37K|ENST00000375511,p.E37K	protein_coding	uc004drc.1	nonsynonymous SNV	exon2	c.G109A	p.E37K	EMQETPNRDLVLEPSLKKMKTSEYS	EMQETPNRDLVLKPSLKKMKTSEYS	1.0	10.0	unscreened	-	3713_X:52825638-52825638 C>T_EMQETPNRDLVLKPSLKKMKTSEYS
17:11583258-11583258 G>A	0.0	3713	MELANOMA	-	-	-	-	DNAH9	ENST00000454412,p.E1180K|uc002gne.3,p.E1180K|uc010coo.3,p.E474K|ENST00000262442,p.E1180K|NM_001372,p.E1180K	retained_intron, protein_coding, processed_transcript	uc010coo.3	nonsynonymous SNV	exon6	c.G1420A	p.E474K	PLKQTIELLKTYEQELPETVFKQLE	PLKQTIELLKTYKQELPETVFKQLE	1.0	9.0	unscreened	-	3713_17:11583258-11583258 G>A_PLKQTIELLKTYKQELPETVFKQLE
9:78790198-78790198 G>A	0.0	3713	MELANOMA	-	-	-	-	PCSK5	ENST00000376767,p.E685K|uc004ajy.2,p.E685K	protein_coding	uc004ajy.2	nonsynonymous SNV	exon14	c.G2053A	p.E685K	GMEWNGMEWNRIESNRIE	GMEWNGMEWNRIKSNRIE	1.0	1.0	unscreened	-	3713_9:78790198-78790198 G>A_GMEWNGMEWNRIKSNRIE
11:429575-429575 C>T	0.0	3713	MELANOMA	-	-	-	-	ANO9	ENST00000332826,p.E304K|uc001lpi.2,p.E304K|NM_001012302,p.E304K|uc010qvv.1,p.E160K	retained_intron, protein_coding	uc010qvv.1	nonsynonymous SNV	exon10	c.G478A	p.E160K	VVLHWDLYVWDEEQEEMALQLINCP	VVLHWDLYVWDEKQEEMALQLINCP	5.0	3.0	unscreened	-	3713_11:429575-429575 C>T_VVLHWDLYVWDEKQEEMALQLINCP
7:82584919-82584919 C>T	1.0	3713	MELANOMA	-	-	-	-	PCLO	ENST00000423517,p.E1784K|NM_014510,p.E1784K|uc003uhx.2,p.E1784K|NM_033026,p.E1784K|uc003uhv.2,p.E1784K|ENST00000333891,p.E1784K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon5	c.G5350A	p.E1784K	DSSEEEELREEEELLKEQEKQREIE	DSSEEEELREEEKLLKEQEKQREIE	2.0	1.0	unscreened	-	3713_7:82584919-82584919 C>T_DSSEEEELREEEKLLKEQEKQREIE
8:36663898-36663898 G>T	0.0	3713	MELANOMA	-	-	-	-	KCNU1	NM_001031836,p.G194C|ENST00000399881,p.G194C|ENST00000523973,p.G194C|uc010lvw.3,p.G194C|ENST00000522372,p.G194C	protein_coding, nonsense_mediated_decay	uc010lvw.3	nonsynonymous SNV	exon5	c.G580T	p.G194C	TFISYYLKSNWLGLRFLRALRLLEL	TFISYYLKSNWLCLRFLRALRLLEL	1.0	4.0	unscreened	-	3713_8:36663898-36663898 G>T_TFISYYLKSNWLCLRFLRALRLLEL
8:2071500-2071500 G>A	0.0	3713	MELANOMA	-	-	-	-	MYOM2	uc003wpx.4,p.E1214K|ENST00000523438,p.E639K|uc011kwi.2,p.E639K|NM_003970,p.E1214K|ENST00000262113,p.E1214K	retained_intron, protein_coding, processed_transcript	uc011kwi.2	nonsynonymous SNV	exon17	c.G1915A	p.E639K	LKDDRGQDVSILEIAGKVYDDMILA	LKDDRGQDVSILKIAGKVYDDMILA	2.0	2.0	unscreened	-	3713_8:2071500-2071500 G>A_LKDDRGQDVSILKIAGKVYDDMILA
18:55024677-55024677 G>A	0.0	3713	MELANOMA	-	-	ID=COSM107591;OCCURENCE=1(skin)	-	ST8SIA3	uc002lgn.3,p.G279E|NM_015879,p.G279E|ENST00000324000,p.G279E	protein_coding, lincRNA	uc002lgn.3	nonsynonymous SNV	exon3	c.G836A	p.G279E	HRGQLKVQLAWPGNIMQHVNRYWKN	HRGQLKVQLAWPENIMQHVNRYWKN	1.0	6.0	unscreened	-	3713_18:55024677-55024677 G>A_HRGQLKVQLAWPENIMQHVNRYWKN
3:108568021-108568021 G>A	0.0	3713	MELANOMA	-	-	-	-	TRAT1	uc003dxi.1,p.D75N|uc010hpx.1,p.D38N|ENST00000426646,p.D38N|ENST00000295756,p.D75N|NM_016388,p.D75N	protein_coding, processed_transcript	uc010hpx.1	nonsynonymous SNV	exon4	c.G112A	p.D38N	YGNLDDMISEPMDENCYEQMKARPE	YGNLDDMISEPMNENCYEQMKARPE	5.0	2.0	unscreened	-	3713_3:108568021-108568021 G>A_YGNLDDMISEPMNENCYEQMKARPE
2:165947774-165947774 C>T	0.0	3713	MELANOMA	-	-	-	-	SCN3A	ENST00000360093,p.R1630Q|uc002ucy.3,p.R1581Q|uc002ucx.3,p.R1630Q|NM_001081677,p.R1581Q|ENST00000409101,p.R1581Q|uc010zcy.2,p.R113Q|uc002ucz.3,p.R1581Q|ENST00000283254,p.R1630Q|NM_001081676,p.R1581Q|NM_006922,p.R1630Q|ENST00000540861,p.R113Q	retained_intron, protein_coding, processed_transcript	uc010zcy.2	nonsynonymous SNV	exon3	c.G338A	p.R113Q	TLFRVIRLARIGRILRLIKGAKGIR	TLFRVIRLARIGQILRLIKGAKGIR	2.0	8.0	unscreened	-	3713_2:165947774-165947774 C>T_TLFRVIRLARIGQILRLIKGAKGIR
11:45671242-45671242 G>A	0.0	3713	MELANOMA	-	-	-	-	CHST1	ENST00000308064,p.S411L|NM_003654,p.S411L|uc001mys.2,p.S411L|uc021qgn.1,p.S411L	retained_intron, protein_coding, processed_transcript	uc021qgn.1	nonsynonymous SNV	exon1	c.C1232T	p.S411L	VSLVEERDFRPFS	VSLVEERDFRPFL	2.0	1.0	unscreened	-	3713_11:45671242-45671242 G>A_VSLVEERDFRPFL
2:111753534-111753534 C>T	0.0	3713	MELANOMA	0.0018	-	-	-	ACOXL	ENST00000441974,p.R29C|ENST00000389811,p.R442C|uc021vmn.1,p.R235C|NM_001142807,p.R412C|uc021vmm.1,p.R265C|ENST00000443586,p.R89C|ENST00000439055,p.R412C|ENST00000417074,p.R250C|uc010yxk.1,p.R412C	protein_coding, processed_transcript, nonsense_mediated_decay	uc021vmn.1	nonsynonymous SNV	exon8	c.C703T	p.R235C	DDLAFLLKAVKFRERVLQRGLVARI	DDLAFLLKAVKFCERVLQRGLVARI	1.0	5.0	unscreened	-	3713_2:111753534-111753534 C>T_DDLAFLLKAVKFCERVLQRGLVARI
7:143096894-143096894 C>T	0.0	3713	MELANOMA	-	-	-	-	EPHA1	ENST00000275815,p.G229R|NM_005232,p.G229R|uc003wcz.3,p.G229R	retained_intron, protein_coding, processed_transcript	uc003wcz.3	nonsynonymous SNV	exon4	c.G685A	p.G229R	TLPGPAGLVEVAGTCLPHARASPRP	TLPGPAGLVEVARTCLPHARASPRP	1.0	7.0	unscreened	-	3713_7:143096894-143096894 C>T_TLPGPAGLVEVARTCLPHARASPRP
8:110393743-110393743 G>A	0.0	3713	MELANOMA	-	-	-	-	PKHD1L1	NM_177531,p.R103K|uc003yne.3,p.R103K|ENST00000378402,p.R103K	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon3	c.G308A	p.R103K	DASHSTQITCYTRAMPEDSYTVRVS	DASHSTQITCYTKAMPEDSYTVRVS	1.0	3.0	unscreened	-	3713_8:110393743-110393743 G>A_DASHSTQITCYTKAMPEDSYTVRVS
22:50537909-50537909 G>A	0.0	3713	MELANOMA	-	-	-	-	MOV10L1	uc010han.3,p.R87K|ENST00000395858,p.R107K|uc003bjk.4,p.R107K|uc003bjj.3,p.R107K|NM_001164104,p.R107K|ENST00000262794,p.R107K|ENST00000540615,p.R87K|NM_018995,p.R107K|NM_001164105,p.R87K|uc011arp.2,p.R87K|ENST00000545383,p.R107K	protein_coding, processed_transcript, nonsense_mediated_decay	uc011arp.2	nonsynonymous SNV	exon3	c.G260A	p.R87K	VEAVSDKWEDDSRNHGSPSDCGPRV	VEAVSDKWEDDSKNHGSPSDCGPRV	1.0	10.0	unscreened	-	3713_22:50537909-50537909 G>A_VEAVSDKWEDDSKNHGSPSDCGPRV
19:57327084-57327084 G>A	0.0	3713	MELANOMA	-	-	-	-	PEG3	ENST00000423103,p.P909L|ENST00000599577,p.P909L|NM_001146187,p.P785L|uc002qnu.2,p.P909L|uc010etr.2,p.P909L|uc002qnx.2,p.P783L|NM_006210,p.P909L|NM_001146185,p.P783L|NM_001146184,p.P909L|ENST00000599534,p.P909L|ENST00000598410,p.P785L|ENST00000593695,p.P783L|ENST00000326441,p.P909L|uc002qnw.2,p.P785L|NM_001146186,p.P909L|uc002qnt.2,p.P880L|uc002qnv.2,p.P909L	protein_coding, processed_transcript	uc010etr.2	nonsynonymous SNV	exon9	c.C2726T	p.P909L	QSVFRAKPQKSVPGEGSGEFKKDGE	QSVFRAKPQKSVLGEGSGEFKKDGE	1.0	9.0	unscreened	-	3713_19:57327084-57327084 G>A_QSVFRAKPQKSVLGEGSGEFKKDGE
14:24886071-24886071 C>T	0.0	3713	MELANOMA	-	-	-	-	NYNRIN	NM_025081,p.R1706W|uc001wpf.4,p.R1706W|ENST00000382554,p.R1706W	protein_coding, processed_transcript	uc001wpf.4	nonsynonymous SNV	exon9	c.C5116T	p.R1706W	GLALGAQVASLSRDLQFPCLTSSGA	GLALGAQVASLSWDLQFPCLTSSGA	2.0	7.0	unscreened	-	3713_14:24886071-24886071 C>T_GLALGAQVASLSWDLQFPCLTSSGA
6:7379113-7379113 C>T	0.0	3713	MELANOMA	-	-	-	-	CAGE1	ENST00000512691,p.E154K|ENST00000458291,p.E142K|ENST00000502583,p.E142K|uc003mxl.2,p.E142K|ENST00000512086,p.E142K|ENST00000379918,p.E142K|NM_001170693,p.E142K|ENST00000442019,p.E142K|uc003mxk.2,p.E142K|ENST00000338150,p.E142K|NM_001170692,p.E142K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003mxl.2	nonsynonymous SNV	exon4	c.G424A	p.E142K	VEAFDDEMTEKPEFQSQVYNYAKDN	VEAFDDEMTEKPKFQSQVYNYAKDN	1.0	2.0	unscreened	-	3713_6:7379113-7379113 C>T_VEAFDDEMTEKPKFQSQVYNYAKDN
X:114424980-114424980 G>A	0.0	3713	MELANOMA	-	-	-	-	RBMXL3	ENST00000424776,p.G326R|uc011mte.1,p.G326R|NM_001145346,p.G326R	protein_coding	uc011mte.1	nonsynonymous SNV	exon1	c.G976A	p.G326R	APVWGTPPSYGGGCRYEEYQGNSPD	APVWGTPPSYGGRCRYEEYQGNSPD	1.0	9.0	unscreened	-	3713_X:114424980-114424980 G>A_APVWGTPPSYGGRCRYEEYQGNSPD
5:140187748-140187748 G>A	0.0	3713	MELANOMA	-	-	-	-	PCDHA4	ENST00000512229,p.G326R|NM_031500,p.G326R|uc003lhh.1,p.G326R|NM_018907,p.G326R|ENST00000530339,p.G326R|uc003lhi.2,p.G326R|ENST00000356878,p.G326R|uc011daa.2,p.G326R	protein_coding	uc011daa.2	nonsynonymous SNV	exon1	c.G976A	p.G326R	KSYEIIVEGIDKGQLPLSGHCRVIV	KSYEIIVEGIDKRQLPLSGHCRVIV	1.0	9.0	unscreened	-	3713_5:140187748-140187748 G>A_KSYEIIVEGIDKRQLPLSGHCRVIV
7:141885891-141885891 G>A	0.0	3713	MELANOMA	-	-	-	-	LOC93432	ENST00000477922,p.E1364K|NM_001293626,p.E1364K	retained_intron, protein_coding	NM_001293626	nonsynonymous SNV	exon35	c.G4090A	p.E1364K	EIEELYANPREPEKSLKFDGLWIDM	EIEELYANPREPKKSLKFDGLWIDM	1.0	1.0	unscreened	-	3713_7:141885891-141885891 G>A_EIEELYANPREPKKSLKFDGLWIDM
6:32725081-32725081 C>T	0.0	3713	MELANOMA	-	-	-	-	HLA-DQB2	NM_001300790,p.G253E|ENST00000437316,p.G253E	protein_coding	NM_001300790	nonsynonymous SNV	exon5	c.G758A	p.G253E	GLGLIIRHRGQKGPRGPPPAGLLH	GLGLIIRHRGQKEPRGPPPAGLLH	7.0	2.0	unscreened	-	3713_6:32725081-32725081 C>T_GLGLIIRHRGQKEPRGPPPAGLLH
6:31000134-31000134 G>A	0.0	3713	MELANOMA	-	-	-	-	MUC22	uc021yuh.1,p.A1614T|ENST00000561890,p.A1611T|uc021yug.1,p.A1611T|NM_001198815,p.A1611T	protein_coding	uc021yuh.1	nonsynonymous SNV	exon4	c.G4840A	p.A1614T	GTSTMGASSTTSAHGVRTTTGSTRE	GTSTMGASSTTSTHGVRTTTGSTRE	1.0	1.0	unscreened	-	3713_6:31000134-31000134 G>A_GTSTMGASSTTSTHGVRTTTGSTRE
3:126208165-126208173 GGGGCTGTC>-	0.0	3713	MELANOMA	-	-	-	-	UROC1	NM_001165974,p.612_614del|uc003eiz.2,p.552_554del|ENST00000290868,p.552_554del|NM_144639,p.552_554del|uc010hsi.2,p.612_614del|ENST00000383579,p.612_614del	protein_coding	uc010hsi.2	nonframeshift deletion	exon18	c.1834_1842del	p.612_614del	VLSRDHHDVSGTDSPFRETSNIYDG	VLSRDHHDVSGTFRETSNIYDGSAF	1.0	6.0	unscreened	-	3713_3:126208165-126208173 GGGGCTGTC>-_VLSRDHHDVSGTFRETSNIYDGSAF
5:41161938-41161938 T>G	0.0	3713	MELANOMA	-	-	-	-	C6	uc003jml.2,p.K439Q|NM_001115131,p.K439Q|NM_000065,p.K439Q|ENST00000337836,p.K439Q|ENST00000263413,p.K439Q|uc003jmk.3,p.K439Q	retained_intron, protein_coding, processed_transcript	uc003jml.2	nonsynonymous SNV	exon10	c.A1315C	p.K439Q	EKHEGSFIQGAEKSISLIRGGRSEY	EKHEGSFIQGAEQSISLIRGGRSEY	1.0	8.0	unscreened	-	3713_5:41161938-41161938 T>G_EKHEGSFIQGAEQSISLIRGGRSEY
X:150906962-150906962 G>A	0.0	3713	MELANOMA	-	-	-	-	CNGA2	uc004fey.1,p.E3K|NM_005140,p.E3K|ENST00000329903,p.E3K	protein_coding	uc004fey.1	nonsynonymous SNV	exon2	c.G7A	p.E3K	MTEKTNGVKSSPANN	MTKKTNGVKSSPANN	1.0	10.0	unscreened	-	3713_X:150906962-150906962 G>A_MTKKTNGVKSSPANN
6:29641196-29641196 A>C	0.0	3713	MELANOMA	-	-	-	-	ZFP57	uc011dlw.2,p.F231C|ENST00000488757,p.F231C|ENST00000376881,p.F211C|ENST00000376883,p.F211C|NM_001109809,p.F231C	protein_coding	uc011dlw.2	nonsynonymous SNV	exon4	c.T692G	p.F231C	SYHRRMHLGERPFCCTLCDKTYCDA	SYHRRMHLGERPCCCTLCDKTYCDA	1.0	3.0	unscreened	-	3713_6:29641196-29641196 A>C_SYHRRMHLGERPCCCTLCDKTYCDA
7:82544610-82544610 G>A	1.0	3713	MELANOMA	-	-	ID=COSM222128;OCCURENCE=1(skin)	-	PCLO	NM_014510,p.S4231F|uc003uhx.2,p.S4231F|uc010lec.3,p.S1196F|NM_033026,p.S4231F|ENST00000437081,p.S951F|ENST00000423517,p.S4231F|ENST00000333891,p.S4231F|uc003uhv.2,p.S4231F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lec.3	nonsynonymous SNV	exon2	c.C3587T	p.S1196F	YMTSSTSSIGGISSRARLLQDDITF	YMTSSTSSIGGIFSRARLLQDDITF	2.0	8.0	unscreened	-	3713_7:82544610-82544610 G>A_YMTSSTSSIGGIFSRARLLQDDITF
6:159659644-159659644 C>T	0.0	3713	MELANOMA	-	-	-	-	FNDC1	uc010kjv.3,p.S1376L|ENST00000340366,p.S1313L|uc010kjw.1,p.S1261L|ENST00000297267,p.S1376L|NM_032532,p.S1376L	protein_coding, processed_transcript	uc010kjw.1	nonsynonymous SNV	exon11	c.C3782T	p.S1261L	LVLNAEGRYLQDSHGNPLRIKLGGD	LVLNAEGRYLQDLHGNPLRIKLGGD	1.0	8.0	unscreened	-	3713_6:159659644-159659644 C>T_LVLNAEGRYLQDLHGNPLRIKLGGD
20:2777206-2777206 C>T	0.0	3713	MELANOMA	-	-	-	-	CPXM1	NM_019609,p.E338K|uc002wgu.3,p.E338K|ENST00000380605,p.E338K|uc010gas.3,p.E338K|NM_001184699,p.E338K	protein_coding	uc010gas.3	nonsynonymous SNV	exon8	c.G1012A	p.E338K	GKSYQGLKLYVMEMSDKPGEHELGE	GKSYQGLKLYVMKMSDKPGEHELGE	3.0	9.0	unscreened	-	3713_20:2777206-2777206 C>T_GKSYQGLKLYVMKMSDKPGEHELGE
7:106508514-106508514 G>A	0.0	3713	MELANOMA	-	-	-	-	PIK3CG	uc003vdv.4,p.D170N|NM_001282427,p.D170N|uc003vdw.3,p.D170N|NM_001282426,p.D170N|ENST00000359195,p.D170N|NM_002649,p.D170N|ENST00000440650,p.D170N|uc003vdu.3,p.D170N|ENST00000496166,p.D170N	protein_coding, processed_transcript	uc003vdw.3	nonsynonymous SNV	exon2	c.G508A	p.D170N	IGYDVTDVSNVHDDELEFTRRGLVT	IGYDVTDVSNVHNDELEFTRRGLVT	4.0	1.0	unscreened	-	3713_7:106508514-106508514 G>A_IGYDVTDVSNVHNDELEFTRRGLVT
9:23762043-23762043 C>T	0.0	3713	MELANOMA	-	-	-	-	ELAVL2	uc003zpw.3,p.E64K|uc003zps.3,p.E64K|ENST00000397312,p.E64K|uc003zpu.3,p.E64K|ENST00000380117,p.E64K|NM_001171197,p.E64K|NM_004432,p.E64K|ENST00000544538,p.E64K|ENST00000223951,p.E64K|NM_001171195,p.E64K|ENST00000380110,p.E93K|ENST00000440102,p.E64K|uc003zpt.3,p.E64K|uc003zpv.3,p.E64K	protein_coding, processed_transcript	uc003zpw.3	nonsynonymous SNV	exon2	c.G190A	p.E64K	QEELKSLFGSIGEIESCKLVRDKIT	QEELKSLFGSIGKIESCKLVRDKIT	1.0	9.0	unscreened	-	3713_9:23762043-23762043 C>T_QEELKSLFGSIGKIESCKLVRDKIT
12:41949540-41949540 G>A	0.0	3713	MELANOMA	-	-	-	-	PDZRN4	ENST00000539469,p.R190Q|uc001rmr.3,p.R75Q|NM_001164595,p.R448Q|ENST00000298919,p.R188Q|uc001rmq.4,p.R190Q|NM_013377,p.R190Q|uc009zjz.3,p.R188Q|uc010skn.2,p.R448Q|ENST00000402685,p.R448Q	retained_intron, protein_coding	uc010skn.2	nonsynonymous SNV	exon7	c.G1343A	p.R448Q	DPNSIAAKDGRIREGDRILQINGED	DPNSIAAKDGRIQEGDRILQINGED	1.0	2.0	unscreened	-	3713_12:41949540-41949540 G>A_DPNSIAAKDGRIQEGDRILQINGED
5:64756161-64756161 C>T	1.0	3713	MELANOMA	-	-	-	-	ADAMTS6	ENST00000464680,p.G156D|ENST00000381055,p.G156D|ENST00000536360,p.G156D|NM_197941,p.G156D|uc003jtp.3,p.G156D|ENST00000381052,p.G156D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jtp.3	nonsynonymous SNV	exon4	c.G467A	p.G156D	TKVALSNCVGLHGVIATEDEEYFIE	TKVALSNCVGLHDVIATEDEEYFIE	2.0	8.0	unscreened	-	3713_5:64756161-64756161 C>T_TKVALSNCVGLHDVIATEDEEYFIE
15:23892643-23892643 G>A	0.0	3713	MELANOMA	-	-	-	-	MAGEL2	uc001ywj.4,p.P83S|NM_019066,p.P83S	protein_coding	uc001ywj.4	nonsynonymous SNV	exon1	c.C247T	p.P83S	QLPAPVVPMTQPPALGGPIVPAPPL	QLPAPVVPMTQPSALGGPIVPAPPL	2.0	3.0	unscreened	-	3713_15:23892643-23892643 G>A_QLPAPVVPMTQPSALGGPIVPAPPL
14:42356769-42356769 C>T	0.0	3713	MELANOMA	-	-	-	-	LRFN5	ENST00000554171,p.P314L|uc001wvm.3,p.P314L|ENST00000298119,p.P314L|uc010ana.3,p.P314L|ENST00000554120,p.P314L|NM_152447,p.P314L	protein_coding, processed_transcript	uc010ana.3	nonsynonymous SNV	exon5	c.C941T	p.P314L	QRATLRCKARGDPEPAIHWISPEGK	QRATLRCKARGDLEPAIHWISPEGK	1.0	9.0	unscreened	-	3713_14:42356769-42356769 C>T_QRATLRCKARGDLEPAIHWISPEGK
1:177249777-177249777 G>A	0.0	3713	MELANOMA	-	-	-	-	BRINP2	uc001glf.3,p.G489R|ENST00000361539,p.G489R|uc001glg.3,p.G384R|NM_021165,p.G489R	protein_coding, processed_transcript	uc001glg.3	nonsynonymous SNV	exon5	c.G1150A	p.G384R	CGSCNPGYVLAQGLCRPEVAESLEN	CGSCNPGYVLAQRLCRPEVAESLEN	1.0	5.0	unscreened	-	3713_1:177249777-177249777 G>A_CGSCNPGYVLAQRLCRPEVAESLEN
1:112524447-112524447 G>A	0.0	3713	MELANOMA	-	-	-	-	KCND3	NM_004980,p.S301F|ENST00000315987,p.S301F|ENST00000369697,p.S301F|ENST00000302127,p.S301F|NM_172198,p.S301F|uc001ebu.1,p.S301F|uc001ebv.1,p.S301F	protein_coding	uc001ebv.1	nonsynonymous SNV	exon2	c.C902T	p.S301F	LRVFRVFRIFKFSRHSQGLRILGYT	LRVFRVFRIFKFFRHSQGLRILGYT	1.0	8.0	unscreened	-	3713_1:112524447-112524447 G>A_LRVFRVFRIFKFFRHSQGLRILGYT
11:63065058-63065058 A>G	0.0	3713	MELANOMA	-	-	-	-	SLC22A10	ENST00000533483,p.K178R|NM_001039752,p.K230R|ENST00000332793,p.K230R|uc009yor.3,p.K230R|ENST00000544661,p.K75R|ENST00000535888,p.K20R	protein_coding, processed_transcript, nonsense_mediated_decay	uc009yor.3	nonsynonymous SNV	exon4	c.A689G	p.K230R	SLPITEWIRPNSKALVVILSSGALS	SLPITEWIRPNSRALVVILSSGALS	1.0	7.0	unscreened	-	3713_11:63065058-63065058 A>G_SLPITEWIRPNSRALVVILSSGALS
X:67938254-67938254 G>A	1.0	3713	MELANOMA	-	-	-	-	STARD8	ENST00000252336,p.E420K|uc004dxc.4,p.E420K|uc004dxa.3,p.E420K|NM_001142503,p.E500K|uc004dxb.3,p.E500K|NM_001142504,p.E420K|NM_014725,p.E420K|ENST00000374599,p.E500K|ENST00000374597,p.E420K	protein_coding, processed_transcript, nonsense_mediated_decay	uc004dxc.4	nonsynonymous SNV	exon5	c.G1258A	p.E420K	APAPAPAQDSEQEAHSGGEPTFASS	APAPAPAQDSEQKAHSGGEPTFASS	3.0	8.0	-	-	3713_X:67938254-67938254 G>A_APAPAPAQDSEQKAHSGGEPTFASS
1:178389736-178389736 C>T	1.0	3713	MELANOMA	-	-	ID=COSM1689278,COSM1689277,COSM1689279;OCCURENCE=1(skin)	-	RASAL2	uc001glq.3,p.L219F|ENST00000462775,p.L71F|NM_170692,p.L219F|NM_004841,p.L71F|ENST00000448150,p.L201F|uc001glr.3,p.L71F|ENST00000367649,p.L219F	retained_intron, protein_coding, processed_transcript	uc001glr.3	nonsynonymous SNV	exon3	c.C211T	p.L71F	KLDRNTSFRLPSLRSTDDRSRGLPK	KLDRNTSFRLPSFRSTDDRSRGLPK	5.0	9.0	-	-	3713_1:178389736-178389736 C>T_KLDRNTSFRLPSFRSTDDRSRGLPK
11:45924109-45924109 G>A	0.0	3713	MELANOMA	-	-	-	-	MAPK8IP1	ENST00000241014,p.R264Q|ENST00000395629,p.R254Q|NM_005456,p.R264Q|uc001nbr.3,p.R264Q	retained_intron, protein_coding, processed_transcript	uc001nbr.3	nonsynonymous SNV	exon5	c.G791A	p.R264Q	PAAPPGGRGHSHRDRIHYQADVRLE	PAAPPGGRGHSHQDRIHYQADVRLE	2.0	1.0	unscreened	-	3713_11:45924109-45924109 G>A_PAAPPGGRGHSHQDRIHYQADVRLE
6:34003696-34003696 C>T	0.0	3713	MELANOMA	-	-	-	-	GRM4	NM_001256812,p.D562N|uc003oiq.4,p.D598N|ENST00000544773,p.D562N|ENST00000374181,p.D731N|ENST00000455714,p.D591N|uc031sol.1,p.D423N|uc010jvi.4,p.D423N|NM_000841,p.D731N|ENST00000545715,p.D423N|uc011dsl.3,p.D591N|uc011dsm.3,p.D562N|ENST00000535756,p.D598N|NM_001256811,p.D684N|NM_001282847,p.D423N|uc010jvh.4,p.D731N|NM_001256809,p.D615N|NM_001256813,p.D598N|uc003oio.4,p.D423N|ENST00000538487,p.D731N|ENST00000374177,p.D615N|uc031som.1,p.D615N|uc011dsn.3,p.D684N	protein_coding	uc031som.1	nonsynonymous SNV	exon7	c.G1843A	p.D615N	VVDPSHSVVDFQDQRTLDPRFARGV	VVDPSHSVVDFQNQRTLDPRFARGV	1.0	1.0	unscreened	-	3713_6:34003696-34003696 C>T_VVDPSHSVVDFQNQRTLDPRFARGV
6:54185413-54185413 C>T	0.0	3713	MELANOMA	-	-	-	-	TINAG	uc003pci.3,p.S131L	protein_coding, processed_transcript	uc003pci.3	nonsynonymous SNV	exon2	c.C392T	p.S131L	GCFKDGQHYEEGSVIKENCNSW	GCFKDGQHYEEGLVIKENCNSW	1.0	1.0	unscreened	-	3713_6:54185413-54185413 C>T_GCFKDGQHYEEGLVIKENCNSW
1:12853656-12853656 C>T	0.0	3713	MELANOMA	-	-	-	-	PRAMEF1	ENST00000332296,p.R94C|uc001auj.2,p.R94C|NM_023013,p.R94C	protein_coding	uc001auj.2	nonsynonymous SNV	exon2	c.C280T	p.R94C	LEGLHMLLTQKDRPRRWKLQVLDLR	LEGLHMLLTQKDCPRRWKLQVLDLR	1.0	2.0	unscreened	-	3713_1:12853656-12853656 C>T_LEGLHMLLTQKDCPRRWKLQVLDLR
3:43074075-43074075 C>T	0.0	3713	MELANOMA	-	-	-	-	FAM198A	ENST00000430121,p.S107F|uc010hih.3,p.S80F|NM_001129908,p.S107F|ENST00000273146,p.S107F|uc003cmp.4,p.S107F	retained_intron, protein_coding, nonsense_mediated_decay	uc010hih.3	nonsynonymous SNV	exon2	c.C239T	p.S80F	QGHRARVDRSRESPGGDLRHPGRVR	QGHRARVDRSREFPGGDLRHPGRVR	1.0	2.0	unscreened	-	3713_3:43074075-43074075 C>T_QGHRARVDRSREFPGGDLRHPGRVR
1:110151317-110151317 C>T	0.0	3713	MELANOMA	-	-	-	-	GNAT2	NM_005272,p.D133N|uc001dya.3,p.D133N|ENST00000351050,p.D133N	protein_coding	uc001dya.3	nonsynonymous SNV	exon4	c.G397A	p.D133N	PELVEVIRRLWKDGGVQACFERAAE	PELVEVIRRLWKNGGVQACFERAAE	1.0	3.0	unscreened	-	3713_1:110151317-110151317 C>T_PELVEVIRRLWKNGGVQACFERAAE
3:119456258-119456258 C>T	0.0	3713	MELANOMA	-	-	-	-	MAATS1	uc011bjd.2,p.P338S|uc010hra.2,p.P225S|uc011bje.2,p.P444S|NM_033364,p.P464S|uc010hqz.3,p.P402S|uc010hqy.2,p.P464S|ENST00000273390,p.P464S|uc003ede.4,p.P464S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bje.2	nonsynonymous SNV	exon11	c.C1330T	p.P444S	DKKNKVLEVKKPPRFLQRNPIPQPR	DKKNKVLEVKKPSRFLQRNPIPQPR	1.0	1.0	unscreened	-	3713_3:119456258-119456258 C>T_DKKNKVLEVKKPSRFLQRNPIPQPR
12:112370443-112370443 T>C	1.0	3713	MELANOMA	-	-	-	-	TMEM116	uc001ttf.2,p.K160E|ENST00000549537,p.K66E|ENST00000355445,p.K217E|NM_138341,p.K160E|ENST00000552374,p.K252E|NM_001193531,p.K252E|uc001ttd.2,p.K252E|uc001tte.2,p.K217E|NM_001193453,p.K217E|ENST00000437003,p.K160E|uc001ttc.2,p.K160E|NM_001294314,p.K160E|ENST00000354825,p.K160E|ENST00000550831,p.K160E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ttf.2	nonsynonymous SNV	exon9	c.A478G	p.K160E	CCWGPAVILMIIKLTKPQDTKLHMA	CCWGPAVILMIIELTKPQDTKLHMA	2.0	6.0	unscreened	-	3713_12:112370443-112370443 T>C_CCWGPAVILMIIELTKPQDTKLHMA
11:100912790-100912790 C>T	0.0	3713	MELANOMA	-	-	-	-	PGR	ENST00000534013,p.M250I|NM_001271161,p.M578I|ENST00000263463,p.M742I|NM_001271162,p.M250I|uc001pgh.2,p.M844I|NM_000926,p.M844I|uc001pgi.3,p.M578I|uc001pgg.2,p.M225I|ENST00000325455,p.M844I|uc031qdi.1,p.M250I|NM_001202474,p.M680I	retained_intron, protein_coding, nonsense_mediated_decay	uc031qdi.1	nonsynonymous SNV	exon7	c.G750A	p.M250I	LEGLRSQTQFEEMRSSYIRELIKAI	LEGLRSQTQFEEIRSSYIRELIKAI	1.0	8.0	unscreened	-	3713_11:100912790-100912790 C>T_LEGLRSQTQFEEIRSSYIRELIKAI
9:123636998-123636998 G>A	1.0	3713	MELANOMA	-	-	-	-	PHF19	NM_001286840,p.P27S	retained_intron, protein_coding, processed_transcript	NM_001286840	nonsynonymous SNV	exon2	c.C79T	p.P27S	CQGKLMENRALDPGTRDSYGATSHL	CQGKLMENRALDSGTRDSYGATSHL	9.0	3.0	unscreened	-	3713_9:123636998-123636998 G>A_CQGKLMENRALDSGTRDSYGATSHL
20:42635214-42635214 G>A	0.0	3713	MELANOMA	0.0005	-	-	-	TOX2	ENST00000372999,p.E23K|NM_001098797,p.E65K|NM_001098798,p.E74K|uc002xlf.4,p.E74K|ENST00000341197,p.E65K|ENST00000358131,p.E74K|uc010ggp.3,p.E23K|uc010ggo.3,p.E65K|ENST00000442881,p.E23K|uc002xle.4,p.E23K|uc021wdz.2,p.E65K|ENST00000423191,p.E23K|NM_032883,p.E23K|NM_001098796,p.E23K	protein_coding	uc021wdz.2	nonsynonymous SNV	exon3	c.G193A	p.E65K	TSQTYNGQSENNEDYEIPPITPPNL	TSQTYNGQSENNKDYEIPPITPPNL	4.0	2.0	-	-	3713_20:42635214-42635214 G>A_TSQTYNGQSENNKDYEIPPITPPNL
8:21562500-21562500 G>A	0.0	3713	MELANOMA	-	-	-	-	GFRA2	ENST00000518077,p.L215F|uc003wzu.1,p.L348F|ENST00000400782,p.L243F|ENST00000517328,p.L348F|NM_001165039,p.L215F|uc003wzv.1,p.L243F|uc003wzw.1,p.L215F|ENST00000524240,p.L348F|NM_001495,p.L348F|NM_001165038,p.L243F|ENST00000517892,p.L243F	protein_coding, processed_transcript, nonsense_mediated_decay	uc003wzw.1	nonsynonymous SNV	exon4	c.C643T	p.L215F	EKFLRDFTENPCLRNAIQAFGNGTD	EKFLRDFTENPCFRNAIQAFGNGTD	1.0	4.0	unscreened	-	3713_8:21562500-21562500 G>A_EKFLRDFTENPCFRNAIQAFGNGTD
17:39643376-39643376 C>T	0.0	3713	MELANOMA	-	-	-	-	KRT36	ENST00000393986,p.S295N|NM_003771,p.S345N|uc002hwt.3,p.S345N|ENST00000328119,p.S345N	protein_coding	uc002hwt.3	nonsynonymous SNV	exon6	c.G1034A	p.S345N	LESTLAETEARYSSQLAQMQCLISN	LESTLAETEARYNSQLAQMQCLISN	1.0	2.0	unscreened	-	3713_17:39643376-39643376 C>T_LESTLAETEARYNSQLAQMQCLISN
4:41682037-41682037 G>T	1.0	3713	MELANOMA	-	-	-	-	LIMCH1	NM_001289124,p.K647N|uc003gvv.4,p.K794N|ENST00000513024,p.K647N|ENST00000503057,p.K1178N|uc003gwd.4,p.K627N|uc003gvz.4,p.K1178N|uc003gwc.4,p.K639N|ENST00000396595,p.K639N|uc003gvw.4,p.K793N|NM_001112720,p.K627N|ENST00000514096,p.K634N|NM_001112717,p.K794N|uc011byu.2,p.K627N|uc003gvu.4,p.K794N|uc003gwa.4,p.K634N|ENST00000508501,p.K793N|uc003gvy.4,p.K622N|NM_014988,p.K794N|NM_001289122,p.K806N|NM_001112718,p.K793N|uc011byv.2,p.K544N|ENST00000381753,p.K627N|ENST00000512820,p.K806N|ENST00000313860,p.K794N|ENST00000512946,p.K794N|uc011byw.2,p.K93N|ENST00000511496,p.K634N|ENST00000509277,p.K627N|NM_001112719,p.K639N|uc003gvx.4,p.K806N	protein_coding, processed_transcript	uc011byw.2	nonsynonymous SNV	exon5	c.G279T	p.K93N	QEQERLLQERYQKEQDKLKEEWEKA	QEQERLLQERYQNEQDKLKEEWEKA	4.0	4.0	-	-	3713_4:41682037-41682037 G>T_QEQERLLQERYQNEQDKLKEEWEKA
4:41682037-41682037 G>T	1.0	3713	MELANOMA	-	-	-	-	LIMCH1	ENST00000512632,p.K717N|uc003gwe.4,p.K717N	protein_coding, processed_transcript	uc003gwe.4	nonsynonymous SNV	exon16	c.G2151T	p.K717N	VELVLSQKERYQKEQDKLKEEWEKA	VELVLSQKERYQNEQDKLKEEWEKA	4.0	4.0	-	-	3713_4:41682037-41682037 G>T_VELVLSQKERYQNEQDKLKEEWEKA
20:23065370-23065370 C>T	0.0	3713	MELANOMA	-	-	-	-	CD93	ENST00000246006,p.G487E|NM_012072,p.G487E|uc002wsv.3,p.G487E	protein_coding	uc002wsv.3	nonsynonymous SNV	exon1	c.G1460A	p.G487E	GPPSGPPDEEDKGEKEGSTVPRAAT	GPPSGPPDEEDKEEKEGSTVPRAAT	6.0	2.0	unscreened	-	3713_20:23065370-23065370 C>T_GPPSGPPDEEDKEEKEGSTVPRAAT
19:16003245-16003245 C>T	0.0	3713	MELANOMA	-	-	-	-	CYP4F2	ENST00000587671,p.G53R	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000587671	nonsynonymous SNV	exon4	c.G157A	p.G53R	QVLLQLPGALAGGWAPAECW	QVLLQLPGALAGRWAPAECW	1.0	4.0	unscreened	-	3713_19:16003245-16003245 C>T_QVLLQLPGALAGRWAPAECW
9:133946965-133946965 G>A	0.0	3713	MELANOMA	-	-	-	-	LAMC3	ENST00000361069,p.G1055E|uc004caa.1,p.G1055E|NM_006059,p.G1055E	protein_coding, processed_transcript	uc004caa.1	nonsynonymous SNV	exon18	c.G3164A	p.G1055E	CGSPWGPLDILLGEAPRGDVYQGHH	CGSPWGPLDILLEEAPRGDVYQGHH	2.0	7.0	unscreened	-	3713_9:133946965-133946965 G>A_CGSPWGPLDILLEEAPRGDVYQGHH
9:34552243-34552243 C>T	0.0	3713	MELANOMA	-	-	-	-	CNTFR	ENST00000378980,p.G345E|NM_147164,p.G345E|NM_001207011,p.G345E|uc022bgg.1,p.G345E|ENST00000351266,p.G345E|uc003zuq.2,p.G345E|NM_001842,p.G345E|uc003zup.2,p.G345E	protein_coding	uc022bgg.1	nonsynonymous SNV	exon9	c.G1034A	p.G345E	KICDPGELGSGGGPSAPFLVSVPIT	KICDPGELGSGGEPSAPFLVSVPIT	1.0	7.0	unscreened	-	3713_9:34552243-34552243 C>T_KICDPGELGSGGEPSAPFLVSVPIT
7:148800964-148800967 GGAA>-	0.0	3713	MELANOMA	-	-	-	-	ZNF425	NM_001001661,p.F666fs|ENST00000378061,p.F666fs|uc003wfj.3,p.F666fs	retained_intron, protein_coding, processed_transcript	uc003wfj.3	frameshift deletion	exon4	c.1996_1999del	p.F666fs	TEHIRVHSGEKPFQCPECDKSYCIR	TEHIRVHSGEKPSVRSVTRATASGAA	1.0	1.0	unscreened	-	3713_7:148800964-148800967 GGAA>-_TEHIRVHSGEKPSVRSVTRATASGAA
18:48252367-48252367 C>T	0.0	3713	MELANOMA	-	-	-	-	MAPK4	uc010xdm.2,p.P86S|ENST00000540640,p.P86S|NM_002747,p.P297S|ENST00000400384,p.P297S|uc002lev.3,p.P297S|NM_001292039,p.P86S	protein_coding, processed_transcript	uc010xdm.2	nonsynonymous SNV	exon4	c.C256T	p.P86S	AIDFLEKILTFNPMDRLTAEMGLQH	AIDFLEKILTFNSMDRLTAEMGLQH	1.0	5.0	unscreened	-	3713_18:48252367-48252367 C>T_AIDFLEKILTFNSMDRLTAEMGLQH
2:182543224-182543224 C>T	0.0	3713	MELANOMA	-	-	-	-	NEUROD1	uc002uof.4,p.D122N|ENST00000295108,p.D122N|NM_002500,p.D122N|uc021vto.1,p.D122N	protein_coding, processed_transcript	uc021vto.1	nonsynonymous SNV	exon1	c.G364A	p.D122N	ERNRMHGLNAALDNLRKVVPCYSKT	ERNRMHGLNAALNNLRKVVPCYSKT	1.0	8.0	unscreened	-	3713_2:182543224-182543224 C>T_ERNRMHGLNAALNNLRKVVPCYSKT
1:160811006-160811006 G>A	0.0	3713	MELANOMA	-	-	-	-	CD244	ENST00000492063,p.H217Y|ENST00000368034,p.H217Y|ENST00000368032,p.H217Y|NM_001166663,p.H222Y|NM_016382,p.H217Y|uc001fxa.3,p.H217Y|ENST00000368033,p.H222Y|uc009wtq.3,p.H222Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc009wtq.3	nonsynonymous SNV	exon3	c.C664T	p.H222Y	HTLNLTQDCQNAHQEFRFWPFLVII	HTLNLTQDCQNAYQEFRFWPFLVII	2.0	7.0	unscreened	-	3713_1:160811006-160811006 G>A_HTLNLTQDCQNAYQEFRFWPFLVII
16:51175110-51175110 C>T	0.0	3713	MELANOMA	-	-	-	-	SALL1	ENST00000440970,p.M244I|ENST00000251020,p.M341I|uc021tif.1,p.M244I|NM_002968,p.M341I|ENST00000570206,p.M244I|NM_001127892,p.M244I|uc021tie.1,p.M341I|uc021tid.1,p.M244I	protein_coding, processed_transcript	uc021tif.1	nonsynonymous SNV	exon2	c.G732A	p.M244I	TIIPSNSGSSPNMNILAAAVTTPSS	TIIPSNSGSSPNINILAAAVTTPSS	1.0	2.0	unscreened	-	3713_16:51175110-51175110 C>T_TIIPSNSGSSPNINILAAAVTTPSS
X:19606777-19606777 G>A	1.0	3713	MELANOMA	-	-	-	-	SH3KBP1	ENST00000379726,p.P408S|uc004czm.3,p.P428S|uc011mjf.2,p.P190S|uc011mje.2,p.P167S|NM_001184960,p.P190S|NM_001024666,p.P391S|uc004czl.3,p.P391S|ENST00000379698,p.P391S|ENST00000541422,p.P167S|NM_031892,p.P428S|ENST00000397821,p.P428S|ENST00000379716,p.P190S	protein_coding, processed_transcript	uc011mjf.2	nonsynonymous SNV	exon7	c.C568T	p.P190S	ALPPRRPERPVGPLTHTRGDSPKID	ALPPRRPERPVGSLTHTRGDSPKID	8.0	7.0	-	-	3713_X:19606777-19606777 G>A_ALPPRRPERPVGSLTHTRGDSPKID
12:122248593-122248593 A>G	1.0	3713	MELANOMA	-	-	-	-	SETD1B	uc001ubi.3,p.D581G|ENST00000267197,p.D581G|NM_015048,p.D581G|ENST00000604567,p.D581G|ENST00000542440,p.D581G|uc021rfg.1,p.D581G	protein_coding	uc021rfg.1	nonsynonymous SNV	exon5	c.A1742G	p.D581G	LEDISPTPLPDSDEDEELDLGLGPR	LEDISPTPLPDSGEDEELDLGLGPR	5.0	9.0	unscreened	-	3713_12:122248593-122248593 A>G_LEDISPTPLPDSGEDEELDLGLGPR
8:139163792-139163792 G>A	0.0	3713	MELANOMA	-	-	-	2	FAM135B	uc003yvb.3,p.P538S|ENST00000276737,p.P976S|uc003yux.3,p.P877S|NM_015912,p.P976S|uc003yva.3,p.P538S|ENST00000395297,p.P976S|ENST00000467365,p.P286S|uc003yuy.3,p.P976S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yvb.3	nonsynonymous SNV	exon1	c.C1612T	p.P538S	DDTAFNRGVNAFPEAKHKAGTVCPT	DDTAFNRGVNAFSEAKHKAGTVCPT	1.0	9.0	unscreened	-	3713_8:139163792-139163792 G>A_DDTAFNRGVNAFSEAKHKAGTVCPT
8:92972504-92972504 C>T	0.0	3713	MELANOMA	-	-	-	1	RUNX1T1	NM_175634,p.G594E|ENST00000265814,p.G594E|uc010mao.3,p.G567E|uc003yfd.3,p.G594E|uc010man.2,p.G219E|ENST00000518844,p.G567E|ENST00000436581,p.G605E|NM_001198628,p.G594E|uc003yfe.2,p.G557E|NM_001198634,p.G605E|NM_001198631,p.G594E|NM_001198630,p.G594E|NM_175636,p.G557E|uc010mam.3,p.G567E|NM_001198633,p.G574E|NM_001198626,p.G594E|uc022axt.1,p.G594E|uc022axv.1,p.G594E|uc003yfc.2,p.G567E|uc022axu.1,p.G574E|NM_175635,p.G557E|uc022axp.1,p.G594E|NM_001198679,p.G653E|NM_001198629,p.G594E|ENST00000396218,p.G567E|uc022axr.1,p.G594E|ENST00000520724,p.G557E|uc022axq.1,p.G594E|NM_001198625,p.G567E|ENST00000422361,p.G557E|uc022axo.1,p.G594E|ENST00000360348,p.G557E|uc003yfb.2,p.G557E|uc022axs.1,p.G653E|NM_001198627,p.G594E|uc011lgi.2,p.G605E|ENST00000523629,p.G594E|NM_001198632,p.G567E|NM_004349,p.G567E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022axv.1	nonsynonymous SNV	exon12	c.G1781A	p.G594E	TPPAATPRSTTPGTPSTIETTPR	TPPAATPRSTTPETPSTIETTPR	2.0	2.0	unscreened	-	3713_8:92972504-92972504 C>T_TPPAATPRSTTPETPSTIETTPR
1:223441934-223441934 C>T	0.0	3713	MELANOMA	-	-	-	-	SUSD4	uc001hny.4,p.E149K|ENST00000366878,p.E149K|ENST00000343846,p.E149K|uc001hnx.3,p.E149K|NM_017982,p.E149K|uc001hnz.2,p.E149K|uc010pux.1,p.E78K|ENST00000344029,p.E149K|NM_001037175,p.E149K	protein_coding, processed_transcript	uc010pux.1	nonsynonymous SNV	exon3	c.G232A	p.E78K	YRHGEKLIITCHEGFKIRYPDLHNM	YRHGEKLIITCHKGFKIRYPDLHNM	1.0	5.0	unscreened	-	3713_1:223441934-223441934 C>T_YRHGEKLIITCHKGFKIRYPDLHNM
5:42718559-42718559 G>A	0.0	3713	MELANOMA	-	-	-	-	GHR	uc021xya.1,p.G317E|NM_001242402,p.G317E|ENST00000230882,p.G317E|ENST00000357703,p.G295E|NM_001242400,p.G317E|uc021xxz.1,p.G317E|NM_000163,p.G317E|uc021xxx.1,p.G317E|NM_001242403,p.G317E|uc021xxy.1,p.G317E|NM_001242406,p.G317E|ENST00000537449,p.G130E|uc021xxw.1,p.G317E|NM_001242405,p.G317E|uc011cpq.2,p.G130E|uc003jmt.3,p.G317E|uc003jmu.3,p.G317E|uc003jmv.2,p.G317E|NM_001242399,p.G324E|NM_001242401,p.G317E|NM_001242404,p.G317E|uc021xyd.1,p.G295E|uc021xxv.1,p.G324E|NM_001242460,p.G295E	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xyd.1	nonsynonymous SNV	exon8	c.G884A	p.G295E	KIKGIDPDLLKEGKLEEVNTILAIH	KIKGIDPDLLKEEKLEEVNTILAIH	1.0	3.0	unscreened	-	3713_5:42718559-42718559 G>A_KIKGIDPDLLKEEKLEEVNTILAIH
2:168101095-168101095 G>A	0.0	3713	MELANOMA	-	-	-	-	XIRP2	ENST00000409195,p.D1065N|ENST00000409273,p.D843N|NM_001199144,p.D843N|uc010fpq.3,p.D843N|uc002udy.3,p.D890N|ENST00000295237,p.D1065N|uc002udx.3,p.D1065N|NM_152381,p.D1065N	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.G2527A	p.D843N	KSAKWLFETQPLDSIKYFSDVEETE	KSAKWLFETQPLNSIKYFSDVEETE	1.0	7.0	unscreened	-	3713_2:168101095-168101095 G>A_KSAKWLFETQPLNSIKYFSDVEETE
7:51096500-51096500 C>T	0.0	3713	MELANOMA	-	-	-	-	COBL	uc003tps.3,p.G822R|uc003tpp.4,p.G551R|NM_015198,p.G765R|NM_001287436,p.G822R|ENST00000395542,p.G847R|uc003tpq.4,p.G706R|uc003tpr.4,p.G765R|ENST00000265136,p.G765R|uc003tpo.4,p.G307R|ENST00000445054,p.G657R|ENST00000431948,p.G650R|uc011kcl.2,p.G765R	retained_intron, protein_coding	uc011kcl.2	nonsynonymous SNV	exon10	c.G2293A	p.G765R	SSSVPEAESQPIGKVREFWRCNSVE	SSSVPEAESQPIRKVREFWRCNSVE	1.0	5.0	unscreened	-	3713_7:51096500-51096500 C>T_SSSVPEAESQPIRKVREFWRCNSVE
1:159827661-159827661 G>T	0.0	3713	MELANOMA	-	-	-	-	VSIG8	ENST00000368100,p.L176I|uc001fuh.3,p.L176I|NM_001013661,p.L176I	protein_coding	uc001fuh.3	nonsynonymous SNV	exon4	c.C526A	p.L176I	VLKCYASGGSQPLSYKWAKISGHHY	VLKCYASGGSQPISYKWAKISGHHY	1.0	8.0	unscreened	-	3713_1:159827661-159827661 G>T_VLKCYASGGSQPISYKWAKISGHHY
7:92764921-92764921 C>T	1.0	3713	MELANOMA	-	-	-	-	SAMD9L	uc010lfb.1,p.D122N|ENST00000437805,p.D122N|ENST00000318238,p.D122N|uc003umh.1,p.D122N|uc022ahh.1,p.D122N|uc010lfc.1,p.D122N|NM_152703,p.D122N|uc003umk.1,p.D122N|uc003umj.1,p.D122N|uc010lfd.1,p.D122N|uc003umi.1,p.D122N|ENST00000411955,p.D122N	protein_coding, processed_transcript	uc022ahh.1	nonsynonymous SNV	exon1	c.G364A	p.D122N	EEENSMSSNIDYDPREIRDIKQEES	EEENSMSSNIDYNPREIRDIKQEES	9.0	8.0	-	-	3713_7:92764921-92764921 C>T_EEENSMSSNIDYNPREIRDIKQEES
1:87012950-87012950 G>A	0.0	3713	MELANOMA	-	-	-	-	CLCA4	ENST00000370563,p.E50K|NM_012128,p.E50K|uc009wcs.3,p.E50K	protein_coding, processed_transcript	uc009wcs.3	nonsynonymous SNV	exon1	c.G148A	p.E50K	IDPSVPEDEKIIEQIEDMVTTASTY	IDPSVPEDEKIIKQIEDMVTTASTY	1.0	2.0	unscreened	-	3713_1:87012950-87012950 G>A_IDPSVPEDEKIIKQIEDMVTTASTY
15:100537771-100537771 G>A	0.0	3713	MELANOMA	-	-	-	-	ADAMTS17	uc002bvv.1,p.P872L|ENST00000268070,p.P872L|NM_139057,p.P872L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bvv.1	nonsynonymous SNV	exon19	c.C2615T	p.P872L	PCQSRWVAGPWSPCSATCEKGFQHR	PCQSRWVAGPWSLCSATCEKGFQHR	1.0	7.0	unscreened	-	3713_15:100537771-100537771 G>A_PCQSRWVAGPWSLCSATCEKGFQHR
2:210806134-210806134 C>T	0.0	3713	MELANOMA	-	-	-	-	UNC80	NM_182587,p.T2208I|uc021vvx.1,p.T2208I|uc010zjc.1,p.T2213I|ENST00000272845,p.T2208I|ENST00000439458,p.T2213I|NM_032504,p.T2213I|uc002vdk.2,p.T1374I	retained_intron, protein_coding, processed_transcript	uc021vvx.1	nonsynonymous SNV	exon43	c.C6623T	p.T2208I	PEDSALLRQYAATVINTAVHFNHLF	PEDSALLRQYAAIVINTAVHFNHLF	1.0	6.0	unscreened	-	3713_2:210806134-210806134 C>T_PEDSALLRQYAAIVINTAVHFNHLF
12:81042696-81042696 C>T	0.0	3713	MELANOMA	-	-	-	-	PTPRQ	ENST00000266688,p.S1975F	retained_intron, protein_coding, processed_transcript	ENST00000266688	nonsynonymous SNV	exon41	c.C5924T	p.S1975F	DERLTRLLSYRKSIKPISKKSFLQH	DERLTRLLSYRKFIKPISKKSFLQH	1.0	1.0	unscreened	-	3713_12:81042696-81042696 C>T_DERLTRLLSYRKFIKPISKKSFLQH
10:72539420-72539420 T>C	0.0	3713	MELANOMA	-	-	-	-	TBATA	uc010qjn.1,p.Q119R|ENST00000299290,p.Q119R|uc010qjm.1,p.Q119R|uc010qjo.1,p.Q108R|ENST00000456372,p.Q119R|NM_152710,p.Q119R|uc010qjp.1,p.Q108R|ENST00000545575,p.Q109R|uc001jrj.1,p.Q119R	protein_coding	uc010qjp.1	nonsynonymous SNV	exon3	c.A323G	p.Q108R	APLPESTVFSGCQMGIPTISVPIGD	APLPESTVFSGCRMGIPTISVPIGD	1.0	5.0	unscreened	-	3713_10:72539420-72539420 T>C_APLPESTVFSGCRMGIPTISVPIGD
1:225428299-225428299 G>A	0.0	3713	MELANOMA	-	-	-	-	DNAH14	ENST00000430092,p.E2153K|ENST00000445597,p.E1748K|NM_001373,p.E2153K|uc001how.2,p.E2153K|ENST00000439375,p.E2153K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001how.2	nonsynonymous SNV	exon42	c.G6457A	p.E2153K	ESVTFKDIEKRDENTWYPEKNPDKL	ESVTFKDIEKRDKNTWYPEKNPDKL	5.0	1.0	unscreened	-	3713_1:225428299-225428299 G>A_ESVTFKDIEKRDKNTWYPEKNPDKL
9:107367329-107367329 C>T	0.0	3713	MELANOMA	-	-	-	-	OR13C2	NM_001004481,p.D194N|uc011lvq.2,p.D194N|ENST00000542196,p.D194N	protein_coding	uc011lvq.2	nonsynonymous SNV	exon1	c.G580A	p.D194N	LAVMKLACADISDNEFIMLVATTLF	LAVMKLACADISNNEFIMLVATTLF	1.0	3.0	unscreened	-	3713_9:107367329-107367329 C>T_LAVMKLACADISNNEFIMLVATTLF
9:39086805-39086805 G>A	0.0	3713	MELANOMA	-	-	-	-	CNTNAP3	ENST00000358144,p.P1000S|uc004abj.3,p.P1007S|uc004abi.3,p.P1088S|ENST00000377656,p.P1007S|NM_033655,p.P1088S|ENST00000297668,p.P1088S|uc004abk.1,p.P1088S	protein_coding, processed_transcript, nonsense_mediated_decay	uc004abk.1	nonsynonymous SNV	exon20	c.C3262T	p.P1088S	LQIRYKLDRHQNPDAFTFDFKNMAD	LQIRYKLDRHQNSDAFTFDFKNMAD	1.0	2.0	unscreened	-	3713_9:39086805-39086805 G>A_LQIRYKLDRHQNSDAFTFDFKNMAD
20:18143506-18143506 G>A	1.0	3713	MELANOMA	-	-	-	-	CSRP2BP	uc010zru.2,p.E401K|NM_020536,p.E530K|ENST00000489634,p.E402K|uc021wbb.1,p.E530K|ENST00000278816,p.E530K|ENST00000435364,p.E530K|ENST00000377681,p.E529K|uc002wqk.3,p.E402K	protein_coding, processed_transcript	uc021wbb.1	nonsynonymous SNV	exon6	c.G1588A	p.E530K	ALLLVDGIYGAKEGGISRLPAGQAT	ALLLVDGIYGAKKGGISRLPAGQAT	5.0	9.0	-	-	3713_20:18143506-18143506 G>A_ALLLVDGIYGAKKGGISRLPAGQAT
2:112541962-112541962 C>T	0.0	3713	MELANOMA	-	-	-	-	ANAPC1	NM_022662,p.E1645K|ENST00000341068,p.E1645K|uc002thi.3,p.E1645K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002thi.3	nonsynonymous SNV	exon41	c.G4933A	p.E1645K	LLEVTYKGTQWYEQTKEELMAPTLL	LLEVTYKGTQWYKQTKEELMAPTLL	4.0	1.0	unscreened	-	3713_2:112541962-112541962 C>T_LLEVTYKGTQWYKQTKEELMAPTLL
7:51096302-51096302 C>T	0.0	3713	MELANOMA	-	-	-	-	COBL	uc003tpq.4,p.E772K|uc003tpp.4,p.E617K|NM_015198,p.E831K|ENST00000431948,p.E716K|ENST00000265136,p.E831K|uc011kcl.2,p.E831K|uc003tpo.4,p.E373K|ENST00000395542,p.E913K|NM_001287436,p.E888K|uc003tps.3,p.E888K|ENST00000445054,p.E723K|uc003tpr.4,p.E831K	retained_intron, protein_coding	uc011kcl.2	nonsynonymous SNV	exon10	c.G2491A	p.E831K	KSAHHEGRNPLGEGRNQPPTMGMGH	KSAHHEGRNPLGKGRNQPPTMGMGH	1.0	1.0	unscreened	-	3713_7:51096302-51096302 C>T_KSAHHEGRNPLGKGRNQPPTMGMGH
6:32939748-32939748 G>A	1.0	3713	MELANOMA	-	-	-	-	BRD2	ENST00000496118,p.D162N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000496118	nonsynonymous SNV	exon2	c.G484A	p.D162N	FPVGLCGTLLPGD	FPVGLCGTLLPGN	10.0	10.0	unscreened	-	3713_6:32939748-32939748 G>A_FPVGLCGTLLPGN
3:2908504-2908504 G>A	0.0	3713	MELANOMA	-	-	-	-	CNTN4	ENST00000427741,p.E175K|ENST00000427331,p.E175K|ENST00000418658,p.E175K|uc003bpd.1,p.E175K|NM_175607,p.E175K|uc003bpc.3,p.E175K|uc021wsg.1,p.E175K|NM_001206955,p.E175K|ENST00000397461,p.E175K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wsg.1	nonsynonymous SNV	exon7	c.G523A	p.E175K	PSYQDNRRFVSQETGNLYIAKVEKS	PSYQDNRRFVSQKTGNLYIAKVEKS	1.0	2.0	unscreened	-	3713_3:2908504-2908504 G>A_PSYQDNRRFVSQKTGNLYIAKVEKS
18:57106810-57106810 C>T	0.0	3713	MELANOMA	-	-	-	-	CCBE1	ENST00000398179,p.G35S|uc010dpq.3,p.G35S	retained_intron, protein_coding	uc010dpq.3	nonsynonymous SNV	exon3	c.G103A	p.G35S	DLLACLGARALPGPPGAPGRDGSKG	DLLACLGARALPSPPGAPGRDGSKG	2.0	1.0	-	-	3713_18:57106810-57106810 C>T_DLLACLGARALPSPPGAPGRDGSKG
7:86416405-86416405 G>A	0.0	3713	MELANOMA	-	-	-	2	GRM3	uc010lef.3,p.D431N|ENST00000394720,p.D431N|ENST00000439827,p.D433N	protein_coding	uc010lef.3	nonsynonymous SNV	exon3	c.G1291A	p.D431N	AMKILDGKKLYKDYLLKINFTGADD	AMKILDGKKLYKNYLLKINFTGADD	1.0	5.0	unscreened	-	3713_7:86416405-86416405 G>A_AMKILDGKKLYKNYLLKINFTGADD
16:25704031-25704031 C>T	0.0	3713	MELANOMA	-	-	-	-	HS3ST4	uc002dof.3,p.P98L|NM_006040,p.P98L|ENST00000331351,p.P98L	protein_coding, processed_transcript	uc002dof.3	nonsynonymous SNV	exon1	c.C293T	p.P98L	PTPVRLGAPSQPPAPPPLDNASHGE	PTPVRLGAPSQPLAPPPLDNASHGE	1.0	1.0	unscreened	-	3713_16:25704031-25704031 C>T_PTPVRLGAPSQPLAPPPLDNASHGE
20:9416254-9416254 G>A	0.0	3713	MELANOMA	-	-	-	-	PLCB4	NM_001172646,p.E858K|NM_000933,p.E846K|ENST00000378501,p.E846K|ENST00000378493,p.E846K|ENST00000334005,p.E846K|ENST00000278655,p.E846K|uc010gbw.1,p.E846K|uc021wal.1,p.E846K|uc021wam.1,p.E846K|uc010gbx.3,p.E858K|ENST00000378473,p.E858K|NM_182797,p.E846K|uc002wnh.3,p.E693K|ENST00000414679,p.E858K	protein_coding, processed_transcript	uc021wam.1	nonsynonymous SNV	exon25	c.G2536A	p.E846K	ALSDPKKFLSITEKRADQMRAMGIE	ALSDPKKFLSITKKRADQMRAMGIE	1.0	1.0	unscreened	-	3713_20:9416254-9416254 G>A_ALSDPKKFLSITKKRADQMRAMGIE
5:151772006-151772006 G>A	0.0	3713	MELANOMA	-	-	-	-	NMUR2	NM_020167,p.R332C|ENST00000255262,p.R332C|uc003luv.2,p.R332C	protein_coding, processed_transcript	uc003luv.2	nonsynonymous SNV	exon4	c.C994T	p.R332C	SAVNPIIYNLLSRRFQAAFQNVISS	SAVNPIIYNLLSCRFQAAFQNVISS	1.0	7.0	unscreened	-	3713_5:151772006-151772006 G>A_SAVNPIIYNLLSCRFQAAFQNVISS
19:49254349-49254349 G>A	0.0	3713	MELANOMA	-	-	-	-	FUT1	NM_000148,p.P64S|uc002pkk.3,p.P64S|uc021uwy.1,p.P64S|ENST00000310160,p.P64S	protein_coding, processed_transcript	uc021uwy.1	nonsynonymous SNV	exon1	c.C190T	p.P64S	VAIFCLPGTAMGPNASSSCPQHPAS	VAIFCLPGTAMGSNASSSCPQHPAS	1.0	10.0	unscreened	-	3713_19:49254349-49254349 G>A_VAIFCLPGTAMGSNASSSCPQHPAS
3:181430515-181430515 G>A	0.0	3713	MELANOMA	-	-	-	1	SOX2	uc003fkx.3,p.D123N|ENST00000325404,p.D123N|ENST00000431565,p.D123N|NM_003106,p.D123N	protein_coding	uc003fkx.3	nonsynonymous SNV	exon1	c.G367A	p.D123N	RPRRKTKTLMKKDKYTLPGGLLAPG	RPRRKTKTLMKKNKYTLPGGLLAPG	7.0	7.0	unscreened	-	3713_3:181430515-181430515 G>A_RPRRKTKTLMKKNKYTLPGGLLAPG
8:77768521-77768521 C>T	0.0	3713	MELANOMA	-	-	ID=COSM229756;OCCURENCE=1(skin)	-	ZFHX4	ENST00000521891,p.P3122S|ENST00000455469,p.P3077S|ENST00000518282,p.P3096S|uc003yau.2,p.P3122S|NM_024721,p.P3122S	retained_intron, protein_coding, nonsense_mediated_decay	uc003yau.2	nonsynonymous SNV	exon10	c.C9364T	p.P3122S	PGMNGPSSLPGFPQNSNTLTPPGAG	PGMNGPSSLPGFSQNSNTLTPPGAG	1.0	9.0	unscreened	-	3713_8:77768521-77768521 C>T_PGMNGPSSLPGFSQNSNTLTPPGAG
1:196927143-196927143 G>A	0.0	3713	MELANOMA	-	-	-	-	CFHR2	uc001gtq.1,p.E185K|uc001gtr.1,p.E61K|NM_005666,p.E185K|ENST00000367421,p.E185K|ENST00000367415,p.E185K	protein_coding, processed_transcript	uc001gtr.1	nonsynonymous SNV	exon2	c.G181A	p.E61K	SVEYQCQNLYQLEGNNQITCRNGQW	SVEYQCQNLYQLKGNNQITCRNGQW	1.0	9.0	unscreened	-	3713_1:196927143-196927143 G>A_SVEYQCQNLYQLKGNNQITCRNGQW
6:30917802-30917802 G>A	0.0	3713	MELANOMA	-	-	-	-	DPCR1	ENST00000462446,p.E521K|NM_080870,p.E521K|uc003nsg.2,p.E521K	protein_coding	uc003nsg.2	nonsynonymous SNV	exon2	c.G1561A	p.E521K	NEKTTSSSAEPTEHGERTPLANENT	NEKTTSSSAEPTKHGERTPLANENT	1.0	1.0	unscreened	-	3713_6:30917802-30917802 G>A_NEKTTSSSAEPTKHGERTPLANENT
6:123588881-123588881 C>T	0.0	3713	MELANOMA	-	-	-	-	TRDN	uc010kem.2,p.R86Q|uc003pzj.2,p.R585Q|ENST00000334268,p.R585Q|NM_006073,p.R585Q|ENST00000398178,p.R585Q	protein_coding	uc010kem.2	nonsynonymous SNV	exon19	c.G257A	p.R86Q	TAKPKPTKKAEHREREPPSIKTDKP	TAKPKPTKKAEHQEREPPSIKTDKP	1.0	1.0	unscreened	-	3713_6:123588881-123588881 C>T_TAKPKPTKKAEHQEREPPSIKTDKP
16:863661-863661 G>A	0.0	3713	MELANOMA	-	-	-	-	PRR25	NM_001013638,p.E337K|uc010uut.2,p.E337K|ENST00000301698,p.E337K	protein_coding	uc010uut.2	nonsynonymous SNV	exon3	c.G1009A	p.E337K	GVAAGIWLVEPGEAAQDPATRRTAP	GVAAGIWLVEPGKAAQDPATRRTAP	1.0	1.0	unscreened	-	3713_16:863661-863661 G>A_GVAAGIWLVEPGKAAQDPATRRTAP
9:95838234-95838234 C>T	0.0	3713	MELANOMA	-	-	-	-	SUSD3	ENST00000375469,p.S73L|ENST00000375472,p.S86L|NM_001287005,p.S73L|NM_001287006,p.S86L|uc004atb.3,p.S86L|uc004atc.3,p.S73L|NM_145006,p.S86L	protein_coding, processed_transcript	uc004atc.3	nonsynonymous SNV	exon3	c.C218T	p.S73L	TCTWKGSIAEWSSGSPVCKLVPPHE	TCTWKGSIAEWSLGSPVCKLVPPHE	4.0	6.0	unscreened	-	3713_9:95838234-95838234 C>T_TCTWKGSIAEWSLGSPVCKLVPPHE
1:145416466-145416466 G>A	0.0	3713	MELANOMA	-	-	-	-	HFE2	NM_213653,p.G271R|uc001enj.2,p.G45R|uc001enl.2,p.G45R|ENST00000497365,p.G45R|uc001enk.2,p.G158R|NM_202004,p.G45R|ENST00000336751,p.G271R|NM_213652,p.G45R|ENST00000357836,p.G158R|uc021oux.1,p.G45R|uc001eni.2,p.G271R|NM_145277,p.G158R|ENST00000475797,p.G45R	protein_coding	uc021oux.1	nonsynonymous SNV	exon1	c.G133A	p.G45R	GGSSLSIQTANPGNHVEIQAAYIGT	GGSSLSIQTANPRNHVEIQAAYIGT	1.0	2.0	unscreened	-	3713_1:145416466-145416466 G>A_GGSSLSIQTANPRNHVEIQAAYIGT
4:166935631-166935631 G>A	0.0	3713	MELANOMA	-	-	-	-	TLL1	uc003irh.2,p.G321S|NM_012464,p.G321S|ENST00000061240,p.G321S|uc011cjo.2,p.G145S|ENST00000513213,p.G321S|uc021xud.1,p.G321S|NM_001204760,p.G321S|ENST00000507499,p.G321S|uc011cjn.2,p.G321S	protein_coding, nonsense_mediated_decay	uc021xud.1	nonsynonymous SNV	exon8	c.G961A	p.G321S	FLDTILPSRDDNGIRPAIGQRTRLS	FLDTILPSRDDNSIRPAIGQRTRLS	1.0	9.0	unscreened	-	3713_4:166935631-166935631 G>A_FLDTILPSRDDNSIRPAIGQRTRLS
19:36342200-36342200 C>T	0.0	3713	MELANOMA	-	-	-	-	NPHS1	uc002oby.3,p.E121K|ENST00000353632,p.E121K|NM_004646,p.E121K|ENST00000378910,p.E121K	retained_intron, protein_coding	uc002oby.3	nonsynonymous SNV	exon3	c.G361A	p.E121K	YECQVGRSEMGPELVSPRVILSILV	YECQVGRSEMGPKLVSPRVILSILV	1.0	7.0	unscreened	-	3713_19:36342200-36342200 C>T_YECQVGRSEMGPKLVSPRVILSILV
6:46655977-46655977 G>A	0.0	3713	MELANOMA	-	-	-	-	TDRD6	uc003oyj.3,p.E38K|NM_001168359,p.E38K|ENST00000316081,p.E38K|NM_001010870,p.E38K|uc010jze.3,p.E38K|ENST00000544460,p.E38K	protein_coding	uc010jze.3	nonsynonymous SNV	exon1	c.G112A	p.E38K	DVIPVQLWGLVGERRGEYLRLSREI	DVIPVQLWGLVGKRRGEYLRLSREI	1.0	1.0	unscreened	-	3713_6:46655977-46655977 G>A_DVIPVQLWGLVGKRRGEYLRLSREI
3:49898730-49898730 C>T	0.0	3713	MELANOMA	-	-	-	-	CAMKV	NM_024046,p.E149K|uc011bcz.1,p.E112K|uc003cxu.2,p.E149K|uc011bcy.1,p.E74K|uc003cxv.1,p.E149K|uc003cxt.1,p.E149K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bcz.1	nonsynonymous SNV	exon6	c.G334A	p.E112K	HSLKIVHRNLKLENLVYYNRLKNSK	HSLKIVHRNLKLKNLVYYNRLKNSK	1.0	4.0	unscreened	-	3713_3:49898730-49898730 C>T_HSLKIVHRNLKLKNLVYYNRLKNSK
12:41421689-41421689 C>T	0.0	3713	MELANOMA	-	-	-	-	CNTN1	ENST00000551295,p.S914L|ENST00000348761,p.S903L|ENST00000347616,p.S914L|NM_175038,p.S903L|NM_001843,p.S914L|uc031qgz.1,p.S903L|uc001rmm.2,p.S914L	protein_coding, processed_transcript, nonsense_mediated_decay	uc031qgz.1	nonsynonymous SNV	exon20	c.C2708T	p.S903L	KAPPSQPPRIISSVRSGSRYIITWD	KAPPSQPPRIISLVRSGSRYIITWD	1.0	3.0	unscreened	-	3713_12:41421689-41421689 C>T_KAPPSQPPRIISLVRSGSRYIITWD
1:114641885-114641885 G>A	0.0	3713	MELANOMA	-	-	-	-	SYT6	NM_001270805,p.P314S|ENST00000369547,p.P314S|NM_205848,p.P314S|uc001eev.3,p.P314S|ENST00000393296,p.P399S|uc021orz.1,p.P314S	protein_coding, processed_transcript	uc021orz.1	nonsynonymous SNV	exon5	c.C940T	p.P314S	NLKAMDITGYSDPYVKVSLLCDGRR	NLKAMDITGYSDSYVKVSLLCDGRR	1.0	8.0	unscreened	-	3713_1:114641885-114641885 G>A_NLKAMDITGYSDSYVKVSLLCDGRR
4:37445294-37445294 G>A	0.0	3713	MELANOMA	-	-	-	-	NWD2	uc011bxz.2,p.E562K|ENST00000309447,p.E562K|NM_001144990,p.E562K	protein_coding	uc011bxz.2	nonsynonymous SNV	exon7	c.G1684A	p.E562K	HGILQKLRCLIHEEDNYIELIPRDR	HGILQKLRCLIHKEDNYIELIPRDR	1.0	5.0	unscreened	-	3713_4:37445294-37445294 G>A_HGILQKLRCLIHKEDNYIELIPRDR
2:107040297-107040297 C>T	0.0	3713	MELANOMA	-	-	-	2	RGPD3	uc010ywi.1,p.E1376K|ENST00000304514,p.E1376K|ENST00000409886,p.E1376K|NM_001144013,p.E1376K	retained_intron, protein_coding	uc010ywi.1	nonsynonymous SNV	exon20	c.G4126A	p.E1376K	FYRYDKDVGQWKERGIGDIKILQNY	FYRYDKDVGQWKKRGIGDIKILQNY	3.0	1.0	unscreened	-	3713_2:107040297-107040297 C>T_FYRYDKDVGQWKKRGIGDIKILQNY
6:32064387-32064387 C>T	0.0	3713	MELANOMA	-	-	-	-	TNXB	ENST00000375244,p.E415K|NM_019105,p.E415K|ENST00000375247,p.E415K|ENST00000479795,p.E415K|uc003nzl.2,p.E415K	retained_intron, protein_coding	uc003nzl.2	nonsynonymous SNV	exon3	c.G1243A	p.E415K	SCPGDCNQRGRCEDGRCVCWPGYTG	SCPGDCNQRGRCKDGRCVCWPGYTG	2.0	1.0	unscreened	-	3713_6:32064387-32064387 C>T_SCPGDCNQRGRCKDGRCVCWPGYTG
2:84800595-84800595 C>T	0.0	3713	MELANOMA	-	-	-	-	DNAH6	NM_001370,p.T603I|ENST00000398278,p.T603I|uc002sop.3,p.T182I|ENST00000389394,p.T603I|ENST00000237449,p.T603I|uc010fgb.3,p.T603I|uc002soo.3,p.T182I	retained_intron, protein_coding, processed_transcript	uc010fgb.3	nonsynonymous SNV	exon12	c.C1808T	p.T603I	KNFHTIISQIKETIQAAFESARIYA	KNFHTIISQIKEIIQAAFESARIYA	1.0	8.0	unscreened	-	3713_2:84800595-84800595 C>T_KNFHTIISQIKEIIQAAFESARIYA
7:143964186-143964186 G>A	0.0	3713	MELANOMA	-	-	-	-	CTAGE4,CTAGE8	ENST00000487179,p.P720S|uc010lpe.3,p.P720S|NM_198495,p.P720S|NM_001278507,p.P720S	protein_coding	uc010lpe.3	nonsynonymous SNV	exon1	c.C2158T	p.P720S	VDTRGPFMRRGPPFPPPPPGTMFGA	VDTRGPFMRRGPSFPPPPPGTMFGA	2.0	1.0	unscreened	-	3713_7:143964186-143964186 G>A_VDTRGPFMRRGPSFPPPPPGTMFGA
16:57609394-57609394 G>A	0.0	3713	MELANOMA	-	-	-	-	GPR114	uc002ely.3,p.E511K|ENST00000340339,p.E511K|uc002elx.4,p.E511K|NM_153837,p.E511K|ENST00000349457,p.E511K	retained_intron, protein_coding, processed_transcript	uc002ely.3	nonsynonymous SNV	exon12	c.G1531A	p.E511K	LFLWFCSQRCRSEAEAKAQIEAFSS	LFLWFCSQRCRSKAEAKAQIEAFSS	2.0	9.0	unscreened	-	3713_16:57609394-57609394 G>A_LFLWFCSQRCRSKAEAKAQIEAFSS
2:187693133-187693133 G>A	0.0	3713	MELANOMA	-	-	-	-	ZSWIM2	ENST00000295131,p.P494S|uc002upu.1,p.P494S|NM_182521,p.P494S	protein_coding, nonsense_mediated_decay	uc002upu.1	nonsynonymous SNV	exon9	c.C1480T	p.P494S	KLTYDYKISQHFPRYLQDLPTVSFG	KLTYDYKISQHFSRYLQDLPTVSFG	1.0	5.0	unscreened	-	3713_2:187693133-187693133 G>A_KLTYDYKISQHFSRYLQDLPTVSFG
17:10352291-10352291 C>T	0.0	3713	MELANOMA	-	-	-	-	MYH4	uc002gmn.3,p.E1419K|ENST00000255381,p.E1419K|NM_017533,p.E1419K	protein_coding	uc002gmn.3	nonsynonymous SNV	exon31	c.G4255A	p.E1419K	HVEAVNSKCASLEKTKQRLQNEVED	HVEAVNSKCASLKKTKQRLQNEVED	1.0	10.0	unscreened	-	3713_17:10352291-10352291 C>T_HVEAVNSKCASLKKTKQRLQNEVED
4:79420877-79420877 C>T	0.0	3713	MELANOMA	-	-	-	-	FRAS1	NM_025074,p.P3040S|uc003hlc.1,p.P42S|uc003hlb.2,p.P3040S|ENST00000264895,p.P3040S	retained_intron, protein_coding, nonsense_mediated_decay	uc003hlc.1	nonsynonymous SNV	exon2	c.C124T	p.P42S	MATITISNDEDAPTIEFEEAAYQVR	MATITISNDEDASTIEFEEAAYQVR	1.0	6.0	unscreened	-	3713_4:79420877-79420877 C>T_MATITISNDEDASTIEFEEAAYQVR
18:31324849-31324849 T>G	0.0	3713	MELANOMA	-	-	-	-	ASXL3	NM_030632,p.F1679L|uc002kxq.2,p.F1386L|uc010dmg.1,p.F1679L|ENST00000269197,p.F1679L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dmg.1	nonsynonymous SNV	exon12	c.T5037G	p.F1679L	PVKSELHEADKGFRMDTEDFPGPEL	PVKSELHEADKGLRMDTEDFPGPEL	1.0	6.0	unscreened	-	3713_18:31324849-31324849 T>G_PVKSELHEADKGLRMDTEDFPGPEL
7:122635433-122635433 C>T	0.0	3713	MELANOMA	-	-	-	-	TAS2R16	NM_016945,p.E86K|uc003vkl.1,p.E86K|ENST00000249284,p.E86K	protein_coding	uc003vkl.1	nonsynonymous SNV	exon1	c.G256A	p.E86K	LNYVLCNLTITWEFFNILTFWLNSL	LNYVLCNLTITWKFFNILTFWLNSL	1.0	6.0	unscreened	-	3713_7:122635433-122635433 C>T_LNYVLCNLTITWKFFNILTFWLNSL
6:38980042-38980042 C>T	0.0	3713	MELANOMA	-	-	-	-	DNAH8	NM_001206927,p.L4475F|uc003ooe.2,p.L4258F|uc021yzh.1,p.L4475F|ENST00000359357,p.L4258F|ENST00000441566,p.L4222F|ENST00000327475,p.L4463F	protein_coding	uc021yzh.1	nonsynonymous SNV	exon90	c.C13423T	p.L4475F	IKMGHLNSMNIFLRQEIDRMQRVIS	IKMGHLNSMNIFFRQEIDRMQRVIS	1.0	7.0	unscreened	-	3713_6:38980042-38980042 C>T_IKMGHLNSMNIFFRQEIDRMQRVIS
11:59611511-59611511 C>T	0.0	3713	MELANOMA	-	-	-	-	GIF	uc010rkz.1,p.E33K|uc001noi.3,p.E33K|NM_005142,p.E33K|ENST00000257248,p.E33K	retained_intron, protein_coding, nonsense_mediated_decay	uc010rkz.1	nonsynonymous SNV	exon2	c.G97A	p.E33K	QTQSSCSVPSAQEPLVNGIQVLMEN	QTQSSCSVPSAQKPLVNGIQVLMEN	1.0	8.0	unscreened	-	3713_11:59611511-59611511 C>T_QTQSSCSVPSAQKPLVNGIQVLMEN
3:166960308-166960308 C>T	0.0	3713	MELANOMA	-	-	-	-	ZBBX	NM_024687,p.G754E|ENST00000392766,p.G754E|ENST00000392767,p.G754E|NM_001199201,p.G793E|ENST00000392764,p.G725E|uc011bpc.2,p.G793E|NM_001199202,p.G725E|ENST00000455345,p.G793E|uc003feq.3,p.G725E|ENST00000307529,p.G793E|uc003fep.3,p.G754E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bpc.2	nonsynonymous SNV	exon21	c.G2378A	p.G793E	DFLKTSHVRGPCGVEELSCSGRDTK	DFLKTSHVRGPCEVEELSCSGRDTK	1.0	2.0	unscreened	-	3713_3:166960308-166960308 C>T_DFLKTSHVRGPCEVEELSCSGRDTK
22:42415331-42415331 C>T	0.0	3713	MELANOMA	-	-	-	-	WBP2NL	ENST00000445185,p.P27S|ENST00000328823,p.P27S|ENST00000436265,p.P27S|ENST00000329620,p.P27S|uc003bbt.3,p.P27S|NM_152613,p.P27S|ENST00000412113,p.P27S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003bbt.3	nonsynonymous SNV	exon2	c.C79T	p.P27S	LIPNGESLLKRSPNVELSFPQRSEG	LIPNGESLLKRSSNVELSFPQRSEG	3.0	6.0	unscreened	-	3713_22:42415331-42415331 C>T_LIPNGESLLKRSSNVELSFPQRSEG
19:7056841-7056841 C>T	0.0	3713	MELANOMA	-	-	-	-	MBD3L3	NM_001164425,p.R40Q|ENST00000333843,p.R40Q|uc021uns.1,p.R40Q	protein_coding	uc021uns.1	nonsynonymous SNV	exon2	c.G119A	p.R40Q	QKKREIHMAKAHRRRAARSALPMRL	QKKREIHMAKAHQRRAARSALPMRL	1.0	1.0	unscreened	-	3713_19:7056841-7056841 C>T_QKKREIHMAKAHQRRAARSALPMRL
17:34499318-34499318 C>T	0.0	3713	MELANOMA	-	-	-	-	CCL4,CCL3L3	uc002hky.2,p.M131I|ENST00000398801,p.M131I|ENST00000454519,p.M131I	retained_intron, protein_coding, nonsense_mediated_decay	uc002hky.2	nonsynonymous SNV	exon7	c.G393A	p.M131I	EMKLKNPGRYQIMKEKGKRSSEHIQ	EMKLKNPGRYQIIKEKGKRSSEHIQ	6.0	1.0	unscreened	-	3713_17:34499318-34499318 C>T_EMKLKNPGRYQIIKEKGKRSSEHIQ
11:118773473-118773473 G>A	1.0	3713	MELANOMA	-	-	-	1	BCL9L	NM_182557,p.P327S|ENST00000334801,p.P327S|uc001pug.3,p.P327S|uc009zal.3,p.P322S	protein_coding, processed_transcript	uc009zal.3	nonsynonymous SNV	exon6	c.C964T	p.P322S	GSAPPALPPEGPPEDSSQDLAPNSV	GSAPPALPPEGPSEDSSQDLAPNSV	7.0	9.0	-	-	3713_11:118773473-118773473 G>A_GSAPPALPPEGPSEDSSQDLAPNSV
1:209796968-209796968 C>T	1.0	3713	MELANOMA	-	-	-	-	LAMB3	NM_001017402,p.R747K|uc009xco.3,p.R747K|ENST00000367030,p.R747K|uc001hhg.3,p.R747K|uc001hhh.3,p.R747K|NM_001127641,p.R747K|ENST00000391911,p.R747K|ENST00000356082,p.R747K|NM_000228,p.R747K	protein_coding	uc009xco.3	nonsynonymous SNV	exon16	c.G2240A	p.R747K	SSRLLDQLRDSRREAERLVRQAGGG	SSRLLDQLRDSRKEAERLVRQAGGG	1.0	9.0	-	-	3713_1:209796968-209796968 C>T_SSRLLDQLRDSRKEAERLVRQAGGG
5:126676251-126676251 G>A	1.0	3713	MELANOMA	-	-	-	-	MEGF10	uc010jdd.1,p.G83E|ENST00000508365,p.G83E|ENST00000274473,p.G83E|uc010jdc.1,p.G83E|uc003kui.4,p.G83E|NM_032446,p.G83E|ENST00000503335,p.G83E|ENST00000418761,p.G83E|NM_001256545,p.G83E|uc003kuh.4,p.G83E	retained_intron, protein_coding, processed_transcript	uc010jdd.1	nonsynonymous SNV	exon4	c.G248A	p.G83E	RHRVSYRTAYRHGEKTMYRRKSQCC	RHRVSYRTAYRHEEKTMYRRKSQCC	4.0	8.0	unscreened	-	3713_5:126676251-126676251 G>A_RHRVSYRTAYRHEEKTMYRRKSQCC
8:57080045-57080045 G>A	0.0	3713	MELANOMA	-	-	-	1	PLAG1	uc003xsq.4,p.S87F|ENST00000316981,p.S87F|NM_001114634,p.S87F|ENST00000429357,p.S87F|uc003xsr.4,p.S87F|uc010lyi.3,p.S87F|NM_002655,p.S87F	retained_intron, protein_coding, processed_transcript	uc010lyi.3	nonsynonymous SNV	exon4	c.C260T	p.S87F	SKYKLQRHMATHSPEKTHKCNYCEK	SKYKLQRHMATHFPEKTHKCNYCEK	2.0	1.0	unscreened	-	3713_8:57080045-57080045 G>A_SKYKLQRHMATHFPEKTHKCNYCEK
16:46744673-46744673 C>T	0.0	3713	MELANOMA	-	-	-	-	MYLK3	ENST00000394809,p.E715K|uc002eei.4,p.E715K|NM_182493,p.E715K|ENST00000536476,p.E374K|uc010vge.2,p.E374K	retained_intron, protein_coding, processed_transcript	uc010vge.2	nonsynonymous SNV	exon10	c.G1120A	p.E374K	YMLLSGLSPFLGETDAETMNFIVNC	YMLLSGLSPFLGKTDAETMNFIVNC	1.0	6.0	unscreened	-	3713_16:46744673-46744673 C>T_YMLLSGLSPFLGKTDAETMNFIVNC
1:171509789-171509789 C>T	1.0	3713	MELANOMA	-	-	-	-	PRRC2C	NM_015172,p.P1060S|ENST00000392078,p.P1062S|ENST00000367742,p.P1062S|ENST00000338920,p.P1060S|uc010pmg.2,p.P1060S|uc010pmh.2,p.P37S|ENST00000426496,p.P1060S	retained_intron, protein_coding, processed_transcript	uc010pmh.2	nonsynonymous SNV	exon1	c.C109T	p.P37S	VKPEKTEKKDLPPPPPPPQPPAPIQ	VKPEKTEKKDLPSPPPPPQPPAPIQ	9.0	9.0	-	-	3713_1:171509789-171509789 C>T_VKPEKTEKKDLPSPPPPPQPPAPIQ
6:56470483-56470483 T>A	1.0	3713	MELANOMA	-	-	-	-	RNU6-71P	uc021zax.1,p.E2444D|ENST00000370754,p.E2948D|ENST00000361203,p.E2770D|ENST00000439203,p.E2444D|ENST00000446842,p.E2444D|ENST00000312431,p.E2770D|ENST00000370769,p.E2770D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zax.1	nonsynonymous SNV	exon26	c.A7332T	p.E2444D	LPELTDSVKGKDEYFKNMTPKVDSS	LPELTDSVKGKDDYFKNMTPKVDSS	10.0	9.0	-	-	3713_6:56470483-56470483 T>A_LPELTDSVKGKDDYFKNMTPKVDSS
21:34166582-34166582 C>T	0.0	3713	MELANOMA	-	-	-	-	C21orf62	ENST00000382373,p.D98N|ENST00000490358,p.D51N|NM_001162496,p.D51N|uc011adu.2,p.D51N|ENST00000536776,p.D51N|NM_019596,p.D51N|ENST00000487113,p.D51N|ENST00000479548,p.D51N|NM_001162495,p.D51N|uc010glz.3,p.D51N|uc011adt.2,p.D51N|uc021wik.1,p.D51N	protein_coding	uc021wik.1	nonsynonymous SNV	exon1	c.G151A	p.D51N	TIRNCSCSADIRDCDYSLANLMCNC	TIRNCSCSADIRNCDYSLANLMCNC	1.0	9.0	unscreened	-	3713_21:34166582-34166582 C>T_TIRNCSCSADIRNCDYSLANLMCNC
17:43515244-43515244 C>T	1.0	3713	MELANOMA	-	-	-	-	PLEKHM1	ENST00000421073,p.E962K|NM_014798,p.E1051K|uc010wjm.2,p.E1023K|ENST00000430334,p.E1051K|uc002ija.3,p.E1051K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wjm.2	nonsynonymous SNV	exon11	c.G3067A	p.E1023K	GCPRCARRRKYQEQNIFA	GCPRCARRRKYQKQNIFA	7.0	2.0	unscreened	-	3713_17:43515244-43515244 C>T_GCPRCARRRKYQKQNIFA
1:158450538-158450538 G>A	0.0	3713	MELANOMA	-	-	-	-	OR10R2	NM_001004472,p.D291N|ENST00000368152,p.D291N|uc010pik.2,p.D291N	protein_coding	uc010pik.2	nonsynonymous SNV	exon1	c.G871A	p.D291N	YLRPTANYVSNKDRLVTVTYTIVTP	YLRPTANYVSNKNRLVTVTYTIVTP	1.0	8.0	unscreened	-	3713_1:158450538-158450538 G>A_YLRPTANYVSNKNRLVTVTYTIVTP
4:36162082-36162082 T>C	0.0	3713	MELANOMA	-	-	-	-	ARAP2	uc003gsr.1,p.K814R	retained_intron, protein_coding, processed_transcript	uc003gsr.1	nonsynonymous SNV	exon13	c.A2441G	p.K814R	TLLASLTKEELNKVFN	TLLASLTKEELNRVFN	4.0	9.0	unscreened	-	3713_4:36162082-36162082 T>C_TLLASLTKEELNRVFN
8:2857630-2857630 G>A	0.0	3713	MELANOMA	-	-	-	-	CSMD1	ENST00000520002,p.P2686S|NM_033225,p.P2685S|uc022aqr.1,p.P2685S|uc011kwj.2,p.P2015S|ENST00000537824,p.P2685S|ENST00000602557,p.P2686S	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon53	c.C8053T	p.P2685S	TRCLAGHCGSPDPIVNGHISGDGFS	TRCLAGHCGSPDSIVNGHISGDGFS	1.0	2.0	unscreened	-	3713_8:2857630-2857630 G>A_TRCLAGHCGSPDSIVNGHISGDGFS
6:159457400-159457400 C>T	0.0	3713	MELANOMA	-	-	-	-	TAGAP	NM_001278733,p.R489Q|uc011eft.2,p.R489Q|NM_152133,p.R374Q|NM_054114,p.R552Q|ENST00000367066,p.R552Q|ENST00000326965,p.R374Q|uc003qsa.3,p.R374Q|uc003qrz.3,p.R552Q	protein_coding	uc011eft.2	nonsynonymous SNV	exon6	c.G1466A	p.R489Q	PRGVRKESQLAGRIVQENGCETHNQ	PRGVRKESQLAGQIVQENGCETHNQ	5.0	8.0	unscreened	-	3713_6:159457400-159457400 C>T_PRGVRKESQLAGQIVQENGCETHNQ
7:86416405-86416405 G>A	0.0	3713	MELANOMA	-	-	-	2	GRM3	NM_000840,p.D433N|uc003uid.3,p.D433N|uc010leg.3,p.D305N|ENST00000536043,p.D305N|ENST00000361669,p.D433N	protein_coding	uc010leg.3	nonsynonymous SNV	exon2	c.G913A	p.D305N	AMKILDGKKLYKDYLLKINFTAPFN	AMKILDGKKLYKNYLLKINFTAPFN	1.0	5.0	unscreened	-	3713_7:86416405-86416405 G>A_AMKILDGKKLYKNYLLKINFTAPFN
17:38816246-38816246 C>T	0.0	3713	MELANOMA	-	-	-	-	KRT222	ENST00000394052,p.E147K|uc010cxc.3,p.E107K|NM_152349,p.E147K|ENST00000476049,p.E147K|uc002hvc.2,p.E147K|uc002hvb.2,p.E107K	protein_coding,nonsense_mediated_decay, nonsense_mediated_decay	uc010cxc.3	nonsynonymous SNV	exon3	c.G319A	p.E107K	EIATYRHLLEKEEIRYYGCIQGGKK	EIATYRHLLEKEKIRYYGCIQGGKK	1.0	8.0	unscreened	-	3713_17:38816246-38816246 C>T_EIATYRHLLEKEKIRYYGCIQGGKK
14:37154055-37154055 G>A	0.0	3713	MELANOMA	-	-	-	-	SLC25A21	ENST00000555449,p.P227S|uc021rsf.1,p.P227S|uc001wtz.2,p.P227S|NM_001171170,p.P227S|ENST00000331299,p.P227S|NM_030631,p.P227S	retained_intron, protein_coding, processed_transcript	uc021rsf.1	nonsynonymous SNV	exon8	c.C679T	p.P227S	LLSGTIASVINIPFDVAKSRIQGPQ	LLSGTIASVINISFDVAKSRIQGPQ	1.0	6.0	unscreened	-	3713_14:37154055-37154055 G>A_LLSGTIASVINISFDVAKSRIQGPQ
12:123498588-123498588 T>C	1.0	3713	MELANOMA	-	-	-	-	PITPNM2	ENST00000542210,p.K27R|ENST00000280562,p.K27R|ENST00000542749,p.K27R|NM_001300801,p.K27R|ENST00000392428,p.K27R|uc001uek.1,p.K27R|NM_020845,p.K27R|uc009zxu.1,p.K27R|ENST00000546049,p.K27R|ENST00000320201,p.K27R|uc001uej.1,p.K27R	retained_intron, protein_coding, processed_transcript	uc009zxu.1	nonsynonymous SNV	exon3	c.A80G	p.K27R	EEYRIAQLYMIQKKSRNETYGEGSG	EEYRIAQLYMIQRKSRNETYGEGSG	4.0	8.0	-	-	3713_12:123498588-123498588 T>C_EEYRIAQLYMIQRKSRNETYGEGSG
18:14513771-14513771 C>T	1.0	3713	MELANOMA	-	-	-	-	POTEC	uc010dln.3,p.D475N|NM_001137671,p.D475N|ENST00000358970,p.D475N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dln.3	nonsynonymous SNV	exon10	c.G1423A	p.D475N	TENEEYHSDEQNDTRKQLSEEQNTG	TENEEYHSDEQNNTRKQLSEEQNTG	1.0	1.0	unscreened	-	3713_18:14513771-14513771 C>T_TENEEYHSDEQNNTRKQLSEEQNTG
1:172628510-172628510 C>T	0.0	3713	MELANOMA	-	-	-	-	FASLG	ENST00000367721,p.P57S|uc001gis.3,p.P57S|uc001git.3,p.P57S|ENST00000340030,p.P57S|NM_000639,p.P57S	protein_coding	uc001git.3	nonsynonymous SNV	exon1	c.C169T	p.P57S	PPPPPPPPPLPPPPPPPPLPPLPLP	PPPPPPPPPLPPSPPPPPLPPLPLP	3.0	1.0	unscreened	-	3713_1:172628510-172628510 C>T_PPPPPPPPPLPPSPPPPPLPPLPLP
7:82585567-82585567 C>T	1.0	3713	MELANOMA	-	-	-	-	PCLO	ENST00000333891,p.D1568N|ENST00000423517,p.D1568N|uc003uhx.2,p.D1568N|NM_033026,p.D1568N|uc003uhv.2,p.D1568N|NM_014510,p.D1568N	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon5	c.G4702A	p.D1568N	IRKQIIEMSADEDASGSEDDEFIRN	IRKQIIEMSADENASGSEDDEFIRN	2.0	2.0	unscreened	-	3713_7:82585567-82585567 C>T_IRKQIIEMSADENASGSEDDEFIRN
6:129663545-129663545 G>A	0.0	3713	MELANOMA	-	-	ID=COSM594022;OCCURENCE=1(lung)	-	LAMA2	NM_000426,p.G1457R|ENST00000421865,p.G1457R|uc003qbo.3,p.G1457R|uc021zfb.1,p.G1457R|uc003qbn.3,p.G1457R|NM_001079823,p.G1457R	protein_coding, processed_transcript	uc021zfb.1	nonsynonymous SNV	exon30	c.G4369A	p.G1457R	GDFCERCALGYYGIVKGLPNDCQQC	GDFCERCALGYYRIVKGLPNDCQQC	1.0	7.0	unscreened	-	3713_6:129663545-129663545 G>A_GDFCERCALGYYRIVKGLPNDCQQC
2:186671372-186671372 G>A	0.0	3713	MELANOMA	-	-	-	-	FSIP2	uc002upl.3,p.G5869E|ENST00000424728,p.G5780E|ENST00000343098,p.G5869E|NM_173651,p.G5869E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon17	c.G17606A	p.G5869E	PDDPQNQRESKPGIFPAKFLEDVIT	PDDPQNQRESKPEIFPAKFLEDVIT	1.0	4.0	unscreened	-	3713_2:186671372-186671372 G>A_PDDPQNQRESKPEIFPAKFLEDVIT
10:24874738-24874738 C>T	1.0	3713	MELANOMA	-	-	-	-	ARHGAP21	uc001isb.2,p.G1494R|NM_020824,p.G1494R|ENST00000396432,p.G1494R	retained_intron, protein_coding, processed_transcript	uc001isb.2	nonsynonymous SNV	exon26	c.G4480A	p.G1494R	DPSTTKDEKISLGKESTPSEEPSPP	DPSTTKDEKISLRKESTPSEEPSPP	8.0	9.0	-	-	3713_10:24874738-24874738 C>T_DPSTTKDEKISLRKESTPSEEPSPP
4:156135142-156135142 G>A	0.0	3713	MELANOMA	-	-	-	-	NPY2R	NM_000910,p.M17I|uc003ioq.3,p.M17I|uc021xtm.1,p.M17I|ENST00000506608,p.M17I|uc003ior.3,p.M17I|ENST00000329476,p.M17I	protein_coding	uc021xtm.1	nonsynonymous SNV	exon1	c.G51A	p.M17I	GAEADENQTVEEMKVEQYGPQTTPR	GAEADENQTVEEIKVEQYGPQTTPR	1.0	5.0	unscreened	-	3713_4:156135142-156135142 G>A_GAEADENQTVEEIKVEQYGPQTTPR
8:59404289-59404289 C>G	0.0	3713	MELANOMA	-	-	-	-	CYP7A1	NM_000780,p.K420N|ENST00000301645,p.K420N|uc003xtm.4,p.K420N	protein_coding	uc003xtm.4	nonsynonymous SNV	exon6	c.G1260C	p.K420N	KYDRYLDENGKTKTTFYCNGLKLKY	KYDRYLDENGKTNTTFYCNGLKLKY	1.0	3.0	unscreened	-	3713_8:59404289-59404289 C>G_KYDRYLDENGKTNTTFYCNGLKLKY
X:117796720-117796720 G>A	1.0	3713	MELANOMA	-	-	-	-	DOCK11	uc004eqq.2,p.E1460K|NM_144658,p.E1681K|ENST00000276202,p.E1681K|uc004eqp.2,p.E1681K|ENST00000276204,p.E1681K	protein_coding, processed_transcript	uc004eqq.2	nonsynonymous SNV	exon40	c.G4378A	p.E1460K	ITPNIDEEGAMKEDAGMMDVHYSEE	ITPNIDEEGAMKKDAGMMDVHYSEE	3.0	7.0	unscreened	-	3713_X:117796720-117796720 G>A_ITPNIDEEGAMKKDAGMMDVHYSEE
2:179472398-179472398 C>T	1.0	3713	MELANOMA	-	-	-	-	TTN	ENST00000460472,p.E8608K|ENST00000342992,p.E15105K|NM_133378,p.E15105K|NM_003319,p.E8608K|NM_001267550,p.E17673K|uc031rqd.1,p.E16032K|uc021vsy.2,p.E15105K|uc031rqc.1,p.E17673K|uc021vtb.2,p.E8608K|NM_133437,p.E8800K|ENST00000589042,p.E17673K|NM_133432,p.E8733K|NM_001256850,p.E16032K|uc021vsz.2,p.E8800K|ENST00000359218,p.E8733K|ENST00000591111,p.E16032K|ENST00000342175,p.E8800K|uc021vta.2,p.E8733K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon227	c.G48094A	p.E16032K	VTVAEPQEPPAVELDVSVKGGIQIM	VTVAEPQEPPAVKLDVSVKGGIQIM	1.0	4.0	unscreened	-	3713_2:179472398-179472398 C>T_VTVAEPQEPPAVKLDVSVKGGIQIM
1:16525147-16525147 G>C	1.0	3713	MELANOMA	-	-	-	-	ARHGEF19	ENST00000270747,p.R782G|uc001ayc.1,p.R782G|NM_153213,p.R782G	protein_coding, processed_transcript	uc001ayc.1	nonsynonymous SNV	exon16	c.C2344G	p.R782G	YVEEISSLSARLRNLRENKRVTSAT	YVEEISSLSARLGNLRENKRVTSAT	3.0	9.0	-	-	3713_1:16525147-16525147 G>C_YVEEISSLSARLGNLRENKRVTSAT
3:50402536-50402536 C>T	0.0	3713	MELANOMA	-	-	-	-	CACNA2D2	ENST00000479441,p.A1067T|NM_001174051,p.A1067T|uc003dap.3,p.A1060T|ENST00000424201,p.A1060T|uc003daq.3,p.A1067T|ENST00000429770,p.A1061T|NM_006030,p.A1060T	retained_intron, protein_coding, processed_transcript	uc003daq.3	nonsynonymous SNV	exon37	c.G3199A	p.A1067T	VVAEKPLCSQCEAGRLLQKETHSDG	VVAEKPLCSQCETGRLLQKETHSDG	1.0	2.0	unscreened	-	3713_3:50402536-50402536 C>T_VVAEKPLCSQCETGRLLQKETHSDG
12:7559212-7559212 C>T	1.0	3713	MELANOMA	-	-	-	-	CD163L1	uc010sge.2,p.E345K|ENST00000396630,p.E335K|uc001qsy.3,p.E335K|NM_001297650,p.E345K|NM_174941,p.E335K|ENST00000313599,p.E335K|ENST00000416109,p.E345K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sge.2	nonsynonymous SNV	exon5	c.G1033A	p.E345K	VVWLDGVSCSGNESFLWDCRHSGTV	VVWLDGVSCSGNKSFLWDCRHSGTV	1.0	9.0	unscreened	-	3713_12:7559212-7559212 C>T_VVWLDGVSCSGNKSFLWDCRHSGTV
1:161019347-161019347 C>T	0.0	3713	MELANOMA	-	-	-	-	ARHGAP30	uc001fxm.3,p.S364N|uc001fxn.1,p.S364N|NM_181720,p.S518N|NM_001287600,p.S370N|ENST00000368015,p.S341N|NM_001287602,p.S341N|uc001fxk.3,p.S518N|uc001fxl.3,p.S518N|uc009wtx.3,p.S191N|NM_001025598,p.S518N|ENST00000368013,p.S518N|ENST00000368016,p.S518N	retained_intron, protein_coding, nonsense_mediated_decay	uc009wtx.3	nonsynonymous SNV	exon9	c.G572A	p.S191N	VQDSFSFLEDSSSSEPEWVGAEDGE	VQDSFSFLEDSSNSEPEWVGAEDGE	7.0	2.0	unscreened	-	3713_1:161019347-161019347 C>T_VQDSFSFLEDSSNSEPEWVGAEDGE
12:11506333-11506333 G>A	0.0	3713	MELANOMA	-	-	-	-	PRB1	uc001qzw.1,p.P234L	retained_intron, protein_coding	uc001qzw.1	nonsynonymous SNV	exon4	c.C701T	p.P234L	PPPQGGNQPQGPPPPPGKPQGPPPQ	PPPQGGNQPQGPLPPPGKPQGPPPQ	1.0	1.0	unscreened	-	3713_12:11506333-11506333 G>A_PPPQGGNQPQGPLPPPGKPQGPPPQ
18:3879555-3879555 C>T	0.0	3713	MELANOMA	-	-	ID=COSM709567;OCCURENCE=1(lung)	-	DLGAP1	uc010wyz.2,p.E172K|uc002kmf.3,p.E172K|ENST00000584874,p.E172K|ENST00000581527,p.E172K|NM_004746,p.E172K|NM_001242761,p.E172K|uc002kmk.2,p.E172K|ENST00000515196,p.E172K|ENST00000315677,p.E172K	protein_coding, processed_transcript	uc010wyz.2	nonsynonymous SNV	exon4	c.G514A	p.E172K	KGSVNGGKASPDEAQAARYGKRSKS	KGSVNGGKASPDKAQAARYGKRSKS	1.0	1.0	unscreened	-	3713_18:3879555-3879555 C>T_KGSVNGGKASPDKAQAARYGKRSKS
21:45856958-45856958 G>A	1.0	3713	MELANOMA	0.01	-	-	-	TRPM2	ENST00000300481,p.E1305K|uc010gpt.1,p.E1409K|uc002zeu.1,p.E1359K|uc011aff.1,p.E40K|uc002zew.1,p.E1359K|uc002zey.1,p.E838K|uc002zex.1,p.E1145K|ENST00000397932,p.E1409K|NM_003307,p.E1359K|ENST00000397928,p.E1359K|uc002zet.1,p.E1359K|ENST00000300482,p.E1359K	protein_coding, processed_transcript	uc011aff.1	nonsynonymous SNV	exon4	c.G118A	p.E40K	TLYPMVTRWRRNEDGAICRKSIKKM	TLYPMVTRWRRNKDGAICRKSIKKM	5.0	1.0	unscreened	-	3713_21:45856958-45856958 G>A_TLYPMVTRWRRNKDGAICRKSIKKM
17:44067416-44067416 C>T	1.0	3713	MELANOMA	-	-	-	-	MAPT	ENST00000571987,p.S452F|NM_016835,p.S452F|uc010dau.3,p.S452F|ENST00000262410,p.S452F|uc002ijr.4,p.S452F|ENST00000344290,p.S452F|NM_001123066,p.S452F|ENST00000415613,p.S452F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dau.3	nonsynonymous SNV	exon8	c.C1355T	p.S452F	KYVSSVTSRTGSSGAKEMKLKGADG	KYVSSVTSRTGSFGAKEMKLKGADG	1.0	7.0	unscreened	-	3713_17:44067416-44067416 C>T_KYVSSVTSRTGSFGAKEMKLKGADG
3:24188225-24188225 C>T	1.0	3713	MELANOMA	-	-	ID=COSM1685920;OCCURENCE=2(skin)	-	THRB	uc003ccx.4,p.R158Q|NM_000461,p.R158Q|uc010hfe.3,p.R158Q|NM_001128177,p.R158Q|ENST00000356447,p.R158Q|NM_001252634,p.R158Q|ENST00000416420,p.R158Q|ENST00000396671,p.R158Q|ENST00000280696,p.R173Q|NM_001128176,p.R158Q|uc003ccz.4,p.R158Q|uc003ccy.4,p.R158Q	protein_coding	uc010hfe.3	nonsynonymous SNV	exon7	c.G473A	p.R158Q	KYEGKCVIDKVTRNQCQECRFKKCI	KYEGKCVIDKVTQNQCQECRFKKCI	1.0	7.0	unscreened	-	3713_3:24188225-24188225 C>T_KYEGKCVIDKVTQNQCQECRFKKCI
2:119914550-119914550 G>A	0.0	3713	MELANOMA	-	-	-	-	C1QL2	uc002tlo.2,p.A231V|NM_182528,p.A231V|ENST00000272520,p.A231V	protein_coding	uc002tlo.2	nonsynonymous SNV	exon2	c.C692T	p.A231V	MWADLCKNGQVRASAIAQDADQNYD	MWADLCKNGQVRVSAIAQDADQNYD	1.0	1.0	unscreened	-	3713_2:119914550-119914550 G>A_MWADLCKNGQVRVSAIAQDADQNYD
5:140720480-140720480 G>A	1.0	3713	MELANOMA	-	-	-	-	PCDHGA2	uc011dao.2,p.D648N|NM_018915,p.D648N|NM_032009,p.D648N|uc003ljk.2,p.D648N|ENST00000394576,p.D648N	retained_intron, protein_coding	uc011dao.2	nonsynonymous SNV	exon1	c.G1942A	p.D648N	DALKQSLVVAIQDHGQPPLSATVTL	DALKQSLVVAIQNHGQPPLSATVTL	3.0	8.0	-	-	3713_5:140720480-140720480 G>A_DALKQSLVVAIQNHGQPPLSATVTL
4:88903662-88903662 G>A	0.0	3713	MELANOMA	-	-	-	-	SPP1	NM_001040058,p.E187K|ENST00000360804,p.E160K|NM_001251829,p.E146K|uc003hra.3,p.E187K|uc003hrd.3,p.E146K|ENST00000508233,p.E146K|uc011cde.2,p.E200K|ENST00000395080,p.E187K|ENST00000237623,p.E173K|uc003hrc.3,p.E173K|NM_000582,p.E173K|NM_001251830,p.E200K|uc003hrb.3,p.E160K|NM_001040060,p.E160K	retained_intron, protein_coding, processed_transcript	uc011cde.2	nonsynonymous SNV	exon8	c.G598A	p.E200K	RRPDIQYPDATDEDITSHMESEELN	RRPDIQYPDATDKDITSHMESEELN	10.0	6.0	unscreened	-	3713_4:88903662-88903662 G>A_RRPDIQYPDATDKDITSHMESEELN
1:75608816-75608816 C>T	0.0	3713	MELANOMA	-	-	-	-	LHX8	uc001dgq.3,p.R74C|NM_001256114,p.R125C|ENST00000356261,p.R125C|uc021oou.1,p.R135C|ENST00000294638,p.R135C|uc031pmx.1,p.R125C|NM_001001933,p.R135C|uc001dgo.3,p.R135C	protein_coding	uc031pmx.1	nonsynonymous SNV	exon5	c.C373T	p.R125C	FCKLDYFRRYGTRCSRCGRHIHSTD	FCKLDYFRRYGTCCSRCGRHIHSTD	1.0	1.0	unscreened	-	3713_1:75608816-75608816 C>T_FCKLDYFRRYGTCCSRCGRHIHSTD
7:155559248-155559248 G>A	1.0	3713	MELANOMA	-	-	-	-	RBM33	ENST00000341148,p.E28K|NM_053043,p.E1092K|uc003wmg.2,p.E28K|ENST00000401878,p.E1092K|uc011kvv.1,p.E902K|uc010lqk.1,p.E1092K	protein_coding, processed_transcript, nonsense_mediated_decay	uc011kvv.1	nonsynonymous SNV	exon11	c.G2704A	p.E902K	RLMPNKQNLRVVECKPQPCVVSVEG	RLMPNKQNLRVVKCKPQPCVVSVEG	8.0	7.0	-	-	3713_7:155559248-155559248 G>A_RLMPNKQNLRVVKCKPQPCVVSVEG
15:39910339-39910339 T>G	1.0	3713	MELANOMA	-	-	-	-	FSIP1	uc001zki.3,p.E432D|NM_152597,p.E432D|ENST00000350221,p.E432D	protein_coding, processed_transcript	uc001zki.3	nonsynonymous SNV	exon11	c.A1296C	p.E432D	KSIIKLSSERKKEDIEDVTPVFPQL	KSIIKLSSERKKDDIEDVTPVFPQL	1.0	3.0	unscreened	-	3713_15:39910339-39910339 T>G_KSIIKLSSERKKDDIEDVTPVFPQL
2:50699567-50699567 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1021473,COSM1021474,COSM1592170;OCCURENCE=1(endometrium)	-	NRXN1	uc021vhg.1,p.S1078F|uc021vhh.1,p.S1038F|ENST00000406859,p.S1038F|ENST00000406316,p.S1038F|NM_001135659,p.S1078F|ENST00000404971,p.S1078F|NM_004801,p.S1038F|ENST00000402717,p.S1030F|uc002rxb.4,p.S710F|ENST00000405472,p.S1030F|ENST00000401710,p.S47F|ENST00000401669,p.S1038F	retained_intron, protein_coding, processed_transcript	uc021vhh.1	nonsynonymous SNV	exon15	c.C3113T	p.S1038F	LYIGGVAKETYKSLPKLVHAKEGFQ	LYIGGVAKETYKFLPKLVHAKEGFQ	1.0	4.0	unscreened	-	3713_2:50699567-50699567 G>A_LYIGGVAKETYKFLPKLVHAKEGFQ
19:3282389-3282389 C>T	0.0	3713	MELANOMA	-	-	-	-	CELF5	uc002lxm.3,p.P311L|ENST00000292672,p.P311L|uc002lxl.2,p.P311L|ENST00000334293,p.P197L|NM_021938,p.P311L|ENST00000588350,p.P172L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lxm.3	nonsynonymous SNV	exon8	c.C932T	p.P311L	LHSPPLLGTTAVPGLVAPITNGFAG	LHSPPLLGTTAVLGLVAPITNGFAG	1.0	7.0	unscreened	-	3713_19:3282389-3282389 C>T_LHSPPLLGTTAVLGLVAPITNGFAG
9:21166236-21166236 C>T	0.0	3713	MELANOMA	-	-	-	-	IFNA21	ENST00000380225,p.E126K|NM_002175,p.E126K|uc003zom.2,p.E126K	protein_coding	uc003zom.2	nonsynonymous SNV	exon1	c.G376A	p.E126K	QQLNDLEACVIQEVGVEETPLMNVD	QQLNDLEACVIQKVGVEETPLMNVD	1.0	6.0	unscreened	-	3713_9:21166236-21166236 C>T_QQLNDLEACVIQKVGVEETPLMNVD
8:99440707-99440707 G>A	1.0	3713	MELANOMA	-	-	-	-	KCNS2	uc003yin.3,p.G167D|ENST00000521839,p.G167D|NM_020697,p.G167D|uc022azb.1,p.G167D|ENST00000287042,p.G167D	protein_coding	uc022azb.1	nonsynonymous SNV	exon1	c.G500A	p.G167D	YNDASKFDGQPLGNFRRQLWLALDN	YNDASKFDGQPLDNFRRQLWLALDN	1.0	4.0	unscreened	-	3713_8:99440707-99440707 G>A_YNDASKFDGQPLDNFRRQLWLALDN
9:8486254-8486254 C>T	0.0	3713	MELANOMA	-	-	-	-	PTPRD	ENST00000381196,p.G855S|ENST00000540109,p.G855S|ENST00000358503,p.G833S|NM_002839,p.G855S|ENST00000356435,p.G855S|ENST00000360074,p.G842S|uc003zkk.3,p.G855S	retained_intron, protein_coding, processed_transcript	uc003zkk.3	nonsynonymous SNV	exon28	c.G2563A	p.G855S	WHPPVDTFGPLQGYRLKFGRKDMEP	WHPPVDTFGPLQSYRLKFGRKDMEP	1.0	2.0	unscreened	-	3713_9:8486254-8486254 C>T_WHPPVDTFGPLQSYRLKFGRKDMEP
1:22927864-22927864 C>T	0.0	3713	MELANOMA	-	-	-	-	EPHA8	uc001bfx.1,p.T934I|NM_020526,p.T934I|ENST00000166244,p.T934I	protein_coding	uc001bfx.1	nonsynonymous SNV	exon16	c.C2801T	p.T934I	DLRGGSGGGGGLTVGDWLDSIRMGR	DLRGGSGGGGGLIVGDWLDSIRMGR	1.0	4.0	unscreened	-	3713_1:22927864-22927864 C>T_DLRGGSGGGGGLIVGDWLDSIRMGR
6:167587358-167587358 G>A	0.0	3713	MELANOMA	-	-	-	-	TCP10L2	NM_001145121,p.E88K|uc010kkp.3,p.E88K|ENST00000283507,p.E88K|ENST00000366832,p.E88K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kkp.3	nonsynonymous SNV	exon3	c.G262A	p.E88K	QSHMDALRKQNRELREELRGLQRQQ	QSHMDALRKQNRKLREELRGLQRQQ	1.0	1.0	unscreened	-	3713_6:167587358-167587358 G>A_QSHMDALRKQNRKLREELRGLQRQQ
22:37499382-37499382 C>T	0.0	3713	MELANOMA	-	-	-	-	TMPRSS6	ENST00000423761,p.G26R|ENST00000406856,p.G26R|uc003aqt.1,p.G26R|NM_001289000,p.G26R|ENST00000442782,p.G35R|uc003aqu.3,p.G26R|ENST00000406725,p.G26R|uc003aqs.1,p.G35R|NM_001289001,p.G26R|ENST00000346753,p.G35R|NM_153609,p.G35R|ENST00000381792,p.G26R	protein_coding	uc003aqu.3	nonsynonymous SNV	exon2	c.G76A	p.G26R	GDGGDGEEAEPEGMFKACEDSKRKA	GDGGDGEEAEPERMFKACEDSKRKA	1.0	7.0	unscreened	-	3713_22:37499382-37499382 C>T_GDGGDGEEAEPERMFKACEDSKRKA
6:125584040-125584040 G>A	0.0	3713	MELANOMA	-	-	-	-	TPD52L1	NM_001003395,p.A154T|uc003pzu.1,p.A183T|uc003pzy.1,p.A154T|ENST00000527711,p.A170T|NM_001300994,p.A170T|ENST00000534000,p.A183T|ENST00000532429,p.A154T|ENST00000304877,p.A188T|NM_003287,p.A183T	retained_intron, protein_coding, processed_transcript	uc003pzy.1	nonsynonymous SNV	exon7	c.G460A	p.A154T	NGGSFEEVLSSTAHASAQSLAGGSR	NGGSFEEVLSSTTHASAQSLAGGSR	1.0	7.0	unscreened	-	3713_6:125584040-125584040 G>A_NGGSFEEVLSSTTHASAQSLAGGSR
18:57105368-57105368 C>T	1.0	3713	MELANOMA	-	-	-	-	CCBE1	uc002lib.3,p.G321E|ENST00000439986,p.G321E|NM_133459,p.G321E|uc010dpq.3,p.G50E|uc002lia.3,p.G174E|ENST00000398179,p.G50E	retained_intron, protein_coding	uc010dpq.3	nonsynonymous SNV	exon4	c.G149A	p.G50E	GAPGRDGSKGERGAPGPRGSPGPPG	GAPGRDGSKGEREAPGPRGSPGPPG	2.0	9.0	-	-	3713_18:57105368-57105368 C>T_GAPGRDGSKGEREAPGPRGSPGPPG
2:179599590-179599590 C>T	0.0	3713	MELANOMA	-	-	-	-	TTN	NM_133378,p.E3777K|NM_001267550,p.E5021K|uc031rqd.1,p.E4704K|uc031rqc.1,p.E5021K|uc002umz.1,p.E438K|ENST00000342992,p.E3777K|uc021vsy.2,p.E3777K|NM_001256850,p.E4704K|ENST00000589042,p.E5021K|ENST00000591111,p.E4704K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon49	c.G14110A	p.E4704K	PVIQVTWFKNNKELSESNTVRMYFV	PVIQVTWFKNNKKLSESNTVRMYFV	1.0	5.0	unscreened	-	3713_2:179599590-179599590 C>T_PVIQVTWFKNNKKLSESNTVRMYFV
1:176918468-176918468 G>A	0.0	3713	MELANOMA	-	-	-	-	ASTN1	ENST00000367654,p.P644L|ENST00000361833,p.P636L|uc001glc.3,p.P636L|NM_001286164,p.P636L|uc009wwx.1,p.P636L|ENST00000367657,p.P636L|uc001glb.1,p.P636L|NM_207108,p.P636L|NM_004319,p.P636L|uc001gld.1,p.P636L|ENST00000424564,p.P636L	protein_coding, processed_transcript	uc009wwx.1	nonsynonymous SNV	exon12	c.C1907T	p.P636L	DSTGCVCPSGLSPMKDSSGCYDRHI	DSTGCVCPSGLSLMKDSSGCYDRHI	1.0	2.0	unscreened	-	3713_1:176918468-176918468 G>A_DSTGCVCPSGLSLMKDSSGCYDRHI
10:47000183-47000183 G>A	0.0	3713	MELANOMA	-	-	-	-	GPRIN2	NM_014696,p.G435R|uc021ppt.1,p.G435R|ENST00000374314,p.G435R|uc001jec.3,p.G435R|ENST00000374317,p.G435R	protein_coding	uc021ppt.1	nonsynonymous SNV	exon1	c.G1303A	p.G435R	ASEDSLSVEGRRGPLRAVMQSLRRP	ASEDSLSVEGRRRPLRAVMQSLRRP	1.0	1.0	unscreened	-	3713_10:47000183-47000183 G>A_ASEDSLSVEGRRRPLRAVMQSLRRP
5:71494506-71494506 G>T	1.0	3713	MELANOMA	-	-	-	-	MAP1B	uc010iyx.1,p.G1649V|uc003kbw.4,p.G1775V|uc010iyy.1,p.G1649V|NM_005909,p.G1775V|ENST00000296755,p.G1775V|uc010iyw.1,p.G1792V	protein_coding, processed_transcript, nonsense_mediated_decay	uc010iyy.1	nonsynonymous SNV	exon4	c.G4946T	p.G1649V	ASLTSEKVQSLEGEKLSPKSDISPL	ASLTSEKVQSLEVEKLSPKSDISPL	3.0	7.0	unscreened	-	3713_5:71494506-71494506 G>T_ASLTSEKVQSLEVEKLSPKSDISPL
8:6302371-6302371 C>G	0.0	3713	MELANOMA	-	-	-	-	MCPH1	uc011kwl.2,p.S328R|NM_024596,p.S376R|ENST00000344683,p.S376R|uc003wqh.3,p.S376R|ENST00000519480,p.S376R|NM_001172574,p.S376R|uc003wqi.3,p.S376R|ENST00000522905,p.S328R|NM_001172575,p.S328R	protein_coding, processed_transcript	uc011kwl.2	nonsynonymous SNV	exon7	c.C984G	p.S328R	HSPPKEKCKRKRSTRRSIMPRLQLC	HSPPKEKCKRKRRTRRSIMPRLQLC	6.0	2.0	-	-	3713_8:6302371-6302371 C>G_HSPPKEKCKRKRRTRRSIMPRLQLC
6:31922413-31922413 C>T	1.0	3713	MELANOMA	-	-	-	-	NELFE	ENST00000375425,p.D228N|ENST00000454913,p.D221N|ENST00000436289,p.D216N|ENST00000441998,p.D216N|uc003nyk.3,p.D221N|ENST00000375429,p.D221N|ENST00000444811,p.D191N|uc011dot.2,p.D191N|NM_002904,p.D221N	retained_intron, protein_coding, nonsense_mediated_decay	uc011dot.2	nonsynonymous SNV	exon7	c.G571A	p.D191N	DRDRDRERDRDRDRDRDRDRERDRD	DRDRDRERDRDRNRDRDRDRERDRD	9.0	9.0	unscreened	-	3713_6:31922413-31922413 C>T_DRDRDRERDRDRNRDRDRDRERDRD
15:57745960-57745960 G>A	0.0	3713	MELANOMA	-	-	-	-	CGNL1	uc002aeg.3,p.D712N|uc010bfw.3,p.D712N|NM_001252335,p.D712N|NM_032866,p.D712N|ENST00000281282,p.D712N	protein_coding, processed_transcript	uc010bfw.3	nonsynonymous SNV	exon8	c.G2134A	p.D712N	IRDLQDQLSEMHDELDSAKRSEDRE	IRDLQDQLSEMHNELDSAKRSEDRE	2.0	9.0	unscreened	-	3713_15:57745960-57745960 G>A_IRDLQDQLSEMHNELDSAKRSEDRE
16:58429118-58429118 T>C	1.0	3713	MELANOMA	-	-	-	-	GINS3	uc010cdj.3,p.L100S|ENST00000426538,p.L100S|NM_001126129,p.L100S	retained_intron, protein_coding, processed_transcript	uc010cdj.3	nonsynonymous SNV	exon2	c.T299C	p.L100S	EILPPQPPMWLVLQGSKLELPLWLA	EILPPQPPMWLVSQGSKLELPLWLA	4.0	4.0	unscreened	-	3713_16:58429118-58429118 T>C_EILPPQPPMWLVSQGSKLELPLWLA
6:44310963-44310963 G>A	0.0	3713	MELANOMA	-	-	-	-	SPATS1	ENST00000506468,p.R44K	protein_coding, nonsense_mediated_decay	ENST00000506468	nonsynonymous SNV	exon1	c.G131A	p.R44K	PEKRDSGMTEVERTYKSTTKAESLI	PEKRDSGMTEVEKTYKSTTKAESLI	1.0	1.0	unscreened	-	3713_6:44310963-44310963 G>A_PEKRDSGMTEVEKTYKSTTKAESLI
8:3443672-3443672 C>T	0.0	3713	MELANOMA	-	-	-	-	CSMD1	ENST00000520002,p.R404K|ENST00000537824,p.R403K|ENST00000542608,p.R403K|ENST00000400186,p.R404K|ENST00000602557,p.R404K|ENST00000602723,p.R404K|ENST00000539096,p.R403K|NM_033225,p.R403K|uc022aqr.1,p.R403K	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon9	c.G1208A	p.R403K	RVTETLAAWSDHRPICRARTCGSNL	RVTETLAAWSDHKPICRARTCGSNL	1.0	2.0	unscreened	-	3713_8:3443672-3443672 C>T_RVTETLAAWSDHKPICRARTCGSNL
13:109445978-109445978 G>A	0.0	3713	MELANOMA	-	-	-	-	MYO16	NM_001198950,p.G244E|uc001vqu.1,p.G22E|uc010agk.2,p.G244E|ENST00000357550,p.G222E|uc001vqt.1,p.G222E|NM_015011,p.G222E|ENST00000251041,p.G222E|ENST00000356711,p.G222E	protein_coding, processed_transcript	uc010agk.2	nonsynonymous SNV	exon6	c.G731A	p.G244E	SSGGNVNEKNDEGVTLLHMACASGY	SSGGNVNEKNDEEVTLLHMACASGY	1.0	7.0	unscreened	-	3713_13:109445978-109445978 G>A_SSGGNVNEKNDEEVTLLHMACASGY
6:87994495-87994495 C>T	0.0	3713	MELANOMA	-	-	-	-	GJB7	uc021zcj.1,p.D46N|ENST00000296882,p.D46N|NM_198568,p.D46N|uc003plo.2,p.D46N|ENST00000369576,p.D46N|ENST00000525899,p.D46N	protein_coding, processed_transcript	uc021zcj.1	nonsynonymous SNV	exon1	c.G136A	p.D46N	LVYMVAAEHVWKDEQKEFECNSRQP	LVYMVAAEHVWKNEQKEFECNSRQP	1.0	3.0	unscreened	-	3713_6:87994495-87994495 C>T_LVYMVAAEHVWKNEQKEFECNSRQP
17:7534597-7534597 G>A	0.0	3713	MELANOMA	-	-	-	-	SHBG	NM_001289116,p.G42E	retained_intron, protein_coding, nonsense_mediated_decay	NM_001289116	nonsynonymous SNV	exon4	c.G125A	p.G42E	SLRWVLRLRQVSGPLTSKRHPIMRI	SLRWVLRLRQVSEPLTSKRHPIMRI	1.0	9.0	unscreened	-	3713_17:7534597-7534597 G>A_SLRWVLRLRQVSEPLTSKRHPIMRI
17:7534597-7534597 G>A	0.0	3713	MELANOMA	-	-	-	-	SHBG	uc010cmt.2,p.G100E|uc010vuf.1,p.G158E|NM_001289114,p.G100E|NM_001146281,p.G158E|uc002gid.3,p.G100E|NM_001040,p.G158E|uc010cmu.2,p.G100E|uc010cmp.2,p.G100E|uc010cnb.2,p.G158E|NM_001289113,p.G100E|NM_001146280,p.G158E|NM_001146279,p.G158E|uc002gie.2,p.G158E|uc010vue.1,p.G158E|NM_001289115,p.G100E|uc010cmz.2,p.G100E|uc010cmy.2,p.G100E	retained_intron, protein_coding, nonsense_mediated_decay	uc010vuf.1	nonsynonymous SNV	exon4	c.G473A	p.G158E	DGEEVLRLRQVSGPLTSKRHPIMRI	DGEEVLRLRQVSEPLTSKRHPIMRI	1.0	9.0	unscreened	-	3713_17:7534597-7534597 G>A_DGEEVLRLRQVSEPLTSKRHPIMRI
9:125075619-125075619 C>T	1.0	3713	MELANOMA	-	-	-	-	MRRF	NM_138777,p.S222F|ENST00000373729,p.S178F|uc011lyr.2,p.S170F|ENST00000297908,p.S170F|NM_001173512,p.S170F|ENST00000344641,p.S222F|uc010mwa.3,p.S222F	protein_coding, nonsense_mediated_decay	uc011lyr.2	nonsynonymous SNV	exon5	c.C509T	p.S170F	KVRTNSMNKLKKSKDTVSEDTIRLI	KVRTNSMNKLKKFKDTVSEDTIRLI	7.0	5.0	-	-	3713_9:125075619-125075619 C>T_KVRTNSMNKLKKFKDTVSEDTIRLI
18:42530180-42530180 C>T	0.0	3713	MELANOMA	-	-	-	1	SETBP1	uc010dni.3,p.S292F|ENST00000282030,p.S292F|NM_015559,p.S292F	protein_coding	uc010dni.3	nonsynonymous SNV	exon4	c.C875T	p.S292F	NNKDLLLGGVAPSPSSHSSPAPPSS	NNKDLLLGGVAPFPSSHSSPAPPSS	1.0	2.0	unscreened	-	3713_18:42530180-42530180 C>T_NNKDLLLGGVAPFPSSHSSPAPPSS
12:117660615-117660615 C>T	0.0	3713	MELANOMA	-	-	-	-	NOS1	NM_000620,p.D1294N|NM_001204213,p.D958N|NM_001204218,p.D1328N|ENST00000338101,p.D1328N|uc001twn.2,p.D1328N|uc021reo.1,p.D958N|uc001twm.2,p.D1294N|NM_001204214,p.D958N|ENST00000317775,p.D1294N|uc021ren.1,p.D958N	protein_coding, processed_transcript	uc021reo.1	nonsynonymous SNV	exon25	c.G2872A	p.D958N	MVLVFGCRQSKIDHIYREETLQAKN	MVLVFGCRQSKINHIYREETLQAKN	1.0	4.0	unscreened	-	3713_12:117660615-117660615 C>T_MVLVFGCRQSKINHIYREETLQAKN
2:88828730-88828730 C>T	0.0	3713	MELANOMA	-	-	-	-	TEX37	ENST00000303254,p.A94V|uc002stb.2,p.A94V|NM_152670,p.A94V	protein_coding	uc002stb.2	nonsynonymous SNV	exon4	c.C281T	p.A94V	GLPGFFPSQEHEATREDERKFTSTC	GLPGFFPSQEHEVTREDERKFTSTC	1.0	3.0	unscreened	-	3713_2:88828730-88828730 C>T_GLPGFFPSQEHEVTREDERKFTSTC
4:1795671-1795671 C>T	0.0	3713	MELANOMA	-	-	-	1	FGFR3	ENST00000352904,p.P4S|ENST00000412135,p.P4S|ENST00000481110,p.P4S|ENST00000440486,p.P4S|ENST00000340107,p.P4S|NM_022965,p.P4S|uc003gdr.3,p.P4S|uc003gdq.3,p.P4S|NM_000142,p.P4S|uc003gds.3,p.P4S|ENST00000260795,p.P4S|uc003gdu.2,p.P4S|NM_001163213,p.P4S	retained_intron, protein_coding, processed_transcript	uc003gdu.2	nonsynonymous SNV	exon2	c.C10T	p.P4S	MGAPACALALCVAVAI	MGASACALALCVAVAI	1.0	9.0	unscreened	-	3713_4:1795671-1795671 C>T_MGASACALALCVAVAI
6:134350155-134350155 G>A	1.0	3713	MELANOMA	-	-	ID=COSM3620843;OCCURENCE=1(breast)	-	SLC2A12	NM_145176,p.R270C|uc003qem.1,p.R270C|ENST00000275230,p.R270C	protein_coding	uc003qem.1	nonsynonymous SNV	exon2	c.C808T	p.R270C	KDEYQYSFWDLFRSKDNMRTRIMIG	KDEYQYSFWDLFCSKDNMRTRIMIG	1.0	7.0	unscreened	-	3713_6:134350155-134350155 G>A_KDEYQYSFWDLFCSKDNMRTRIMIG
18:28908281-28908281 G>A	0.0	3713	MELANOMA	0.0005	-	-	-	DSG1	uc002kwp.3,p.D116N|NM_001942,p.D116N|ENST00000257192,p.D116N	protein_coding	uc002kwp.3	nonsynonymous SNV	exon4	c.G346A	p.D116N	QKTGEINITSIVDREVTPFFIIYCR	QKTGEINITSIVNREVTPFFIIYCR	1.0	7.0	unscreened	-	3713_18:28908281-28908281 G>A_QKTGEINITSIVNREVTPFFIIYCR
1:157771259-157771259 C>T	0.0	3713	MELANOMA	-	-	-	-	FCRL1	ENST00000368176,p.R332K|ENST00000491942,p.R332K|NM_052938,p.R332K|NM_001159398,p.R332K|uc001frg.3,p.R332K|uc001frh.3,p.R332K	protein_coding, processed_transcript	uc001frh.3	nonsynonymous SNV	exon6	c.G995A	p.R332K	ATVALLFCYGLKRKIGRRSARDPLR	ATVALLFCYGLKKKIGRRSARDPLR	3.0	1.0	unscreened	-	3713_1:157771259-157771259 C>T_ATVALLFCYGLKKKIGRRSARDPLR
3:18393510-18393510 T>A	0.0	3713	MELANOMA	-	-	-	-	SATB1	uc003cbj.3,p.I585F|NM_001131010,p.I585F|uc003cbh.3,p.I585F|ENST00000454909,p.I585F|NM_002971,p.I585F|ENST00000338745,p.I585F	retained_intron, protein_coding	uc003cbj.3	nonsynonymous SNV	exon10	c.A1753T	p.I585F	AVHHHGDRPPHIIHVPAEQIQQQQQ	AVHHHGDRPPHIFHVPAEQIQQQQQ	4.0	3.0	unscreened	-	3713_3:18393510-18393510 T>A_AVHHHGDRPPHIFHVPAEQIQQQQQ
1:152957839-152957839 G>A	0.0	3713	MELANOMA	-	-	-	-	SPRR1A	ENST00000307122,p.V45M|ENST00000368762,p.V45M|uc009wnu.2,p.V45M|NM_005987,p.V45M|NM_001199828,p.V45M|uc001faw.3,p.V45M|uc021ozn.1,p.V45M	protein_coding	uc021ozn.1	nonsynonymous SNV	exon1	c.G133A	p.V45M	CIPKTKEPCHPKVPEPCHPKVPEPC	CIPKTKEPCHPKMPEPCHPKVPEPC	1.0	6.0	unscreened	-	3713_1:152957839-152957839 G>A_CIPKTKEPCHPKMPEPCHPKVPEPC
16:15931818-15931818 C>T	0.0	3713	MELANOMA	-	-	-	1	MYH11	ENST00000452625,p.E98K|NM_002474,p.E98K|NM_001040113,p.E98K|uc002ddy.3,p.E98K|uc002ddv.3,p.E98K|uc002ddx.3,p.E98K|uc002ddw.3,p.E98K|NM_001040114,p.E98K|ENST00000338282,p.E98K|NM_022844,p.E98K|ENST00000396324,p.E98K|ENST00000576790,p.E98K|uc002deb.3,p.E98K|ENST00000300036,p.E98K	retained_intron, protein_coding, processed_transcript	uc002deb.3	nonsynonymous SNV	exon2	c.G292A	p.E98K	KVEDMAELTCLNEASVLHNLRERYF	KVEDMAELTCLNKASVLHNLRERYF	1.0	2.0	unscreened	-	3713_16:15931818-15931818 C>T_KVEDMAELTCLNKASVLHNLRERYF
15:30384328-30384328 G>A	0.0	3713	MELANOMA	-	-	-	-	GOLGA8J	ENST00000341650,p.E267K|ENST00000567927,p.E454K|NM_001282472,p.E454K	protein_coding, processed_transcript	NM_001282472	nonsynonymous SNV	exon15	c.G1360A	p.E454K	PMPSVPEDPESREAMSSFMDHLEEK	PMPSVPEDPESRKAMSSFMDHLEEK	1.0	1.0	unscreened	-	3713_15:30384328-30384328 G>A_PMPSVPEDPESRKAMSSFMDHLEEK
11:6007877-6007877 G>A	0.0	3713	MELANOMA	-	-	-	-	OR52L1	ENST00000332249,p.T95I|uc001mcd.2,p.T95I|NM_001005173,p.T95I	protein_coding	uc001mcd.2	nonsynonymous SNV	exon1	c.C284T	p.T95I	MLAAIDLVLASSTAPKALAVLLVHA	MLAAIDLVLASSIAPKALAVLLVHA	1.0	3.0	unscreened	-	3713_11:6007877-6007877 G>A_MLAAIDLVLASSIAPKALAVLLVHA
5:140362076-140362076 G>A	0.0	3713	MELANOMA	-	-	-	-	PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2	uc003lhi.2,p.E821K|NM_031849,p.E560K|NM_018908,p.E810K|uc003lhf.2,p.E824K|uc003lic.2,p.E815K|ENST00000525929,p.E811K|ENST00000512229,p.E821K|ENST00000530339,p.E821K|uc003lhk.1,p.E810K|uc003lhw.2,p.E559K|uc003lhb.2,p.E824K|uc003lhq.2,p.E811K|uc003lii.3,p.E881K|NM_018909,p.E824K|NM_018899,p.E881K|NM_031857,p.E824K|ENST00000307360,p.E822K|ENST00000253807,p.E837K|uc003lhu.2,p.E824K|NM_018902,p.E823K|ENST00000289272,p.E824K|ENST00000529310,p.E824K|uc003lia.2,p.E823K|uc003lhx.2,p.E822K|uc003lhs.2,p.E824K|NM_018905,p.E822K|ENST00000532602,p.E824K|ENST00000409494,p.E824K|uc003lha.2,p.E560K|uc003lhd.2,p.E822K|ENST00000506939,p.E559K|ENST00000398631,p.E815K|ENST00000526136,p.E822K|ENST00000522353,p.E824K|uc003lhh.1,p.E821K|uc003lho.2,p.E824K|ENST00000289269,p.E881K|uc003lhl.2,p.E810K|NM_018904,p.E824K|ENST00000531613,p.E824K|NM_018906,p.E824K|NM_018901,p.E822K|NM_018911,p.E824K|uc003lie.1,p.E824K|ENST00000529619,p.E810K|NM_018907,p.E821K|ENST00000394633,p.E560K|NM_018903,p.E815K|ENST00000398640,p.E823K|ENST00000504120,p.E824K|uc003lih.2,p.E837K|NM_018898,p.E837K|uc003lif.2,p.E824K|ENST00000527624,p.E560K|NM_018910,p.E811K|uc003lhn.2,p.E560K|NM_031411,p.E560K|NM_018900,p.E824K|NM_031860,p.E559K|ENST00000529859,p.E810K	protein_coding	uc003lii.3	nonsynonymous SNV	exon3	c.G2641A	p.E881K	LRAGMHSSVHLEEAGILRAGPGGPD	LRAGMHSSVHLEKAGILRAGPGGPD	1.0	9.0	unscreened	-	3713_5:140362076-140362076 G>A_LRAGMHSSVHLEKAGILRAGPGGPD
22:45782890-45782890 C>T	0.0	3713	MELANOMA	-	-	-	-	SMC1B	uc003bgd.3,p.G590S|NM_001291501,p.G590S|ENST00000357450,p.G590S|uc003bgc.3,p.G590S|NM_148674,p.G590S|ENST00000404354,p.G590S|uc003bge.1,p.G373S	protein_coding	uc003bge.1	nonsynonymous SNV	exon9	c.G1117A	p.G373S	IKPINERLRELKGCKMVIDVIKTQF	IKPINERLRELKSCKMVIDVIKTQF	1.0	1.0	unscreened	-	3713_22:45782890-45782890 C>T_IKPINERLRELKSCKMVIDVIKTQF
6:24436962-24436962 C>T	0.0	3713	MELANOMA	-	-	-	-	GPLD1	NM_001503,p.E734K|uc003ned.2,p.E734K|ENST00000230036,p.E734K	retained_intron, protein_coding, processed_transcript	uc003ned.2	nonsynonymous SNV	exon22	c.G2200A	p.E734K	LHLSDLDDDGLDEIIMAAPLRIADV	LHLSDLDDDGLDKIIMAAPLRIADV	2.0	2.0	unscreened	-	3713_6:24436962-24436962 C>T_LHLSDLDDDGLDKIIMAAPLRIADV
2:172182564-172182564 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1590886;OCCURENCE=1(endometrium)	-	METTL8	uc010zdp.2,p.R274C|ENST00000375258,p.R319C|uc002ugu.4,p.R319C|uc010zdo.2,p.R319C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zdp.2	nonsynonymous SNV	exon7	c.C820T	p.R274C	FRDYGRYDKTQLRFKKGHCLSENFY	FRDYGRYDKTQLCFKKGHCLSENFY	6.0	3.0	unscreened	-	3713_2:172182564-172182564 G>A_FRDYGRYDKTQLCFKKGHCLSENFY
15:72698958-72698958 C>T	0.0	3713	MELANOMA	-	-	-	-	TMEM202	ENST00000567679,p.P33S|ENST00000568167,p.P33S	protein_coding, nonsense_mediated_decay	ENST00000568167	nonsynonymous SNV	exon2	c.C97T	p.P33S	GNRKYQRIISNIPGPSFSSLSLPYL	GNRKYQRIISNISGPSFSSLSLPYL	1.0	4.0	unscreened	-	3713_15:72698958-72698958 C>T_GNRKYQRIISNISGPSFSSLSLPYL
5:140476316-140476316 G>A	1.0	3713	MELANOMA	-	-	-	-	PCDHB2	NM_018936,p.D648N|uc003lim.1,p.D309N|uc003lil.3,p.D648N|ENST00000194155,p.D648N	protein_coding	uc003lim.1	nonsynonymous SNV	exon2	c.G925A	p.D309N	DAAKQRLVVLVKDNGEPPRSATATL	DAAKQRLVVLVKNNGEPPRSATATL	2.0	1.0	unscreened	-	3713_5:140476316-140476316 G>A_DAAKQRLVVLVKNNGEPPRSATATL
6:170176735-170176735 C>T	1.0	3713	MELANOMA	-	-	-	-	ERMARD	uc011ehb.1,p.R443C|uc003qxi.1,p.R217C|ENST00000366773,p.R569C|ENST00000392095,p.R443C|ENST00000588451,p.R433C|NM_018341,p.R569C|NM_001278532,p.R443C|uc003qxg.1,p.R569C	retained_intron, protein_coding, nonsense_mediated_decay	uc011ehb.1	nonsynonymous SNV	exon15	c.C1327T	p.R443C	RHRQWVERTLRSRQRQNYLRMWSSI	RHRQWVERTLRSCQRQNYLRMWSSI	4.0	2.0	-	-	3713_6:170176735-170176735 C>T_RHRQWVERTLRSCQRQNYLRMWSSI
5:172745038-172745038 C>T	1.0	3713	MELANOMA	-	-	ID=COSM1696765;OCCURENCE=1(skin)	-	STC2	NM_003714,p.E241K|uc003mco.1,p.E241K|uc003mcn.1,p.E156K|ENST00000265087,p.E241K	retained_intron, protein_coding, processed_transcript	uc003mco.1	nonsynonymous SNV	exon4	c.G721A	p.E241K	VDRTKLSRAHHGEAGHHLPEPSSRE	VDRTKLSRAHHGKAGHHLPEPSSRE	2.0	9.0	-	-	3713_5:172745038-172745038 C>T_VDRTKLSRAHHGKAGHHLPEPSSRE
9:140685417-140685417 C>T	1.0	3713	MELANOMA	-	-	-	-	EHMT1	ENST00000462942,p.P453S|ENST00000460843,p.P834S|uc011mfc.2,p.P834S|NM_024757,p.P834S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011mfc.2	nonsynonymous SNV	exon16	c.C2500T	p.P834S	VKYLIKAGALVDPKDAEGSTCLHLA	VKYLIKAGALVDSKDAEGSTCLHLA	8.0	5.0	-	-	3713_9:140685417-140685417 C>T_VKYLIKAGALVDSKDAEGSTCLHLA
16:50667616-50667616 G>A	0.0	3713	MELANOMA	-	-	-	-	NKD1	uc002egg.2,p.G446E|ENST00000268459,p.G446E|NM_033119,p.G446E	retained_intron, protein_coding, processed_transcript	uc002egg.2	nonsynonymous SNV	exon10	c.G1337A	p.G446E	ELPALVVYESQAGQPVQRHEHHHHH	ELPALVVYESQAEQPVQRHEHHHHH	1.0	3.0	unscreened	-	3713_16:50667616-50667616 G>A_ELPALVVYESQAEQPVQRHEHHHHH
9:43630548-43630548 C>T	0.0	3713	MELANOMA	-	-	-	-	SPATA31A6	NM_001145196,p.D52N|ENST00000332857,p.D52N|uc011lrb.2,p.D52N	protein_coding, processed_transcript	uc011lrb.2	nonsynonymous SNV	exon1	c.G154A	p.D52N	FLLLPYLSYFHCDDPPSPSPGKRKC	FLLLPYLSYFHCNDPPSPSPGKRKC	1.0	1.0	unscreened	-	3713_9:43630548-43630548 C>T_FLLLPYLSYFHCNDPPSPSPGKRKC
3:52256980-52256980 C>T	0.0	3713	MELANOMA	-	-	-	-	TLR9	uc003dda.2,p.G451E|ENST00000360658,p.G451E|NM_017442,p.G451E|ENST00000597542,p.G475E|uc003ddb.3,p.G548E	protein_coding	uc003ddb.3	nonsynonymous SNV	exon5	c.G1643A	p.G548E	EADGGEKVWLQPGDLAPAPVDTPSS	EADGGEKVWLQPEDLAPAPVDTPSS	2.0	7.0	unscreened	-	3713_3:52256980-52256980 C>T_EADGGEKVWLQPEDLAPAPVDTPSS
16:20976259-20976259 C>T	0.0	3713	MELANOMA	-	-	-	-	DNAH3	uc010vbd.2,p.E418K|NM_017539,p.E2983K|uc010vbe.2,p.E2983K|ENST00000261383,p.E2983K	retained_intron, protein_coding, processed_transcript	uc010vbe.2	nonsynonymous SNV	exon53	c.G8947A	p.E2983K	ISGLGGEKDRWTEAARQLGIRYTNL	ISGLGGEKDRWTKAARQLGIRYTNL	1.0	9.0	unscreened	-	3713_16:20976259-20976259 C>T_ISGLGGEKDRWTKAARQLGIRYTNL
3:109027920-109027920 C>T	0.0	3713	MELANOMA	-	-	-	-	DPPA2	NM_138815,p.E117K|ENST00000478945,p.E117K|uc003dxo.3,p.E117K	protein_coding	uc003dxo.3	nonsynonymous SNV	exon5	c.G349A	p.E117K	QQLGLSTNGKKIEVYLRLHRHAYPE	QQLGLSTNGKKIKVYLRLHRHAYPE	1.0	2.0	unscreened	-	3713_3:109027920-109027920 C>T_QQLGLSTNGKKIKVYLRLHRHAYPE
8:10557974-10557974 G>A	0.0	3713	MELANOMA	-	-	-	-	C8orf74	uc003wtd.1,p.R293K|ENST00000304519,p.R293K|NM_001040032,p.R293K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003wtd.1	nonsynonymous SNV	exon4	c.G878A	p.R293K	PQRASKGKKAKARK	PQRASKGKKAKAKK	1.0	10.0	unscreened	-	3713_8:10557974-10557974 G>A_PQRASKGKKAKAKK
2:107029563-107029563 C>T	0.0	3713	MELANOMA	-	-	-	2	RGPD3	ENST00000304514,p.G1748E	retained_intron, protein_coding	ENST00000304514	nonsynonymous SNV	exon22	c.G5243A	p.G1748E	INTMLQLSLEEKGKLAAVAQAERGF	INTMLQLSLEEKEKLAAVAQAERGF	3.0	2.0	unscreened	-	3713_2:107029563-107029563 C>T_INTMLQLSLEEKEKLAAVAQAERGF
18:3188769-3188769 C>T	1.0	3713	MELANOMA	-	-	-	-	MYOM1	ENST00000261606,p.E250K|uc002klq.3,p.E250K|NM_003803,p.E250K|NM_019856,p.E250K|uc002klp.3,p.E250K|ENST00000400569,p.E250K|ENST00000356443,p.E250K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002klq.3	nonsynonymous SNV	exon4	c.G748A	p.E250K	KKSRKVVIREKAERLSLRKTLEETE	KKSRKVVIREKAKRLSLRKTLEETE	1.0	1.0	unscreened	-	3713_18:3188769-3188769 C>T_KKSRKVVIREKAKRLSLRKTLEETE
4:265222-265222 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1186494,COSM1186493;OCCURENCE=1(lung)	-	ZNF732	uc021xka.1,p.R475K|ENST00000419098,p.R475K	protein_coding	uc021xka.1	nonsynonymous SNV	exon4	c.G1424A	p.R475K	KHKKIHTGEKPYRCEECGKAFLCSR	KHKKIHTGEKPYKCEECGKAFLCSR	1.0	9.0	unscreened	-	3713_4:265222-265222 C>T_KHKKIHTGEKPYKCEECGKAFLCSR
19:36330398-36330398 C>T	0.0	3713	MELANOMA	-	-	-	-	NPHS1	ENST00000378910,p.R976K|uc002oby.3,p.R976K|NM_004646,p.R976K|ENST00000353632,p.R976K	retained_intron, protein_coding	uc002oby.3	nonsynonymous SNV	exon21	c.G2927A	p.R976K	GFDGGLPQRFCIRYEALGTPGFHYV	GFDGGLPQRFCIKYEALGTPGFHYV	1.0	6.0	unscreened	-	3713_19:36330398-36330398 C>T_GFDGGLPQRFCIKYEALGTPGFHYV
7:31014632-31014632 G>A	0.0	3713	MELANOMA	-	-	-	-	GHRHR	uc003tbz.3,p.R53K|ENST00000409316,p.R53K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003tbz.3	nonsynonymous SNV	exon6	c.G158A	p.R53K	PGRHLPLLVDHQRAHCPLGRGELWA	PGRHLPLLVDHQKAHCPLGRGELWA	1.0	9.0	unscreened	-	3713_7:31014632-31014632 G>A_PGRHLPLLVDHQKAHCPLGRGELWA
15:54306967-54306967 G>A	0.0	3713	MELANOMA	-	-	-	-	UNC13C	ENST00000537900,p.E623K|uc021sms.1,p.E623K|NM_001080534,p.E623K|uc021smr.1,p.E623K|ENST00000260323,p.E623K|ENST00000545554,p.E623K	retained_intron, protein_coding	uc021sms.1	nonsynonymous SNV	exon1	c.G1867A	p.E623K	QGIQGQTETENTETVDSGMSNGMVC	QGIQGQTETENTKTVDSGMSNGMVC	1.0	9.0	unscreened	-	3713_15:54306967-54306967 G>A_QGIQGQTETENTKTVDSGMSNGMVC
1:20140969-20140969 G>A	0.0	3713	MELANOMA	-	-	-	-	RNF186	uc001bcr.3,p.S209F|ENST00000375121,p.S209F|NM_019062,p.S209F	protein_coding	uc001bcr.3	nonsynonymous SNV	exon1	c.C626T	p.S209F	CCLPSTRGSCWPSSRTLFCREQKHS	CCLPSTRGSCWPFSRTLFCREQKHS	1.0	6.0	unscreened	-	3713_1:20140969-20140969 G>A_CCLPSTRGSCWPFSRTLFCREQKHS
10:21158766-21158766 G>A	0.0	3713	MELANOMA	-	-	-	-	NEBL	ENST00000377119,p.S162F|NM_006393,p.S162F|ENST00000377122,p.S162F|uc001iqi.3,p.S162F	retained_intron, protein_coding, processed_transcript	uc001iqi.3	nonsynonymous SNV	exon6	c.C485T	p.S162F	HAMEVNKHQSNISYRKDVQDTHTYS	HAMEVNKHQSNIFYRKDVQDTHTYS	1.0	6.0	unscreened	-	3713_10:21158766-21158766 G>A_HAMEVNKHQSNIFYRKDVQDTHTYS
22:29885380-29885380 C>T	0.0	3713	MELANOMA	-	-	-	-	NEFH	NM_021076,p.A584V|ENST00000310624,p.A584V|uc003afo.3,p.A584V	protein_coding	uc003afo.3	nonsynonymous SNV	exon4	c.C1751T	p.A584V	AKSPAEVKSPEKAKSPAKEEAKSPA	AKSPAEVKSPEKVKSPAKEEAKSPA	1.0	1.0	unscreened	-	3713_22:29885380-29885380 C>T_AKSPAEVKSPEKVKSPAKEEAKSPA
5:35065210-35065210 A>T	0.0	3713	MELANOMA	-	-	-	-	PRLR	NM_000949,p.F617Y|ENST00000382002,p.F617Y|uc003jjm.3,p.F617Y|ENST00000342362,p.F516Y|uc003jjl.4,p.F516Y|ENST00000511486,p.F516Y|NM_001204314,p.F516Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc003jjm.3	nonsynonymous SNV	exon10	c.T1850A	p.F617Y	QLGGLDYLDPACFTHSFH	QLGGLDYLDPACYTHSFH	1.0	6.0	unscreened	-	3713_5:35065210-35065210 A>T_QLGGLDYLDPACYTHSFH
X:72433458-72433458 A>T	0.0	3713	MELANOMA	-	-	-	-	NAP1L2	ENST00000373517,p.F291I|ENST00000536638,p.F149I|uc004ebi.3,p.F291I|NM_021963,p.F291I	protein_coding	uc004ebi.3	nonsynonymous SNV	exon1	c.T871A	p.F291I	PGEPLSFTLEFHFKPNEYFKNELLT	PGEPLSFTLEFHIKPNEYFKNELLT	1.0	6.0	unscreened	-	3713_X:72433458-72433458 A>T_PGEPLSFTLEFHIKPNEYFKNELLT
18:57106810-57106810 C>T	0.0	3713	MELANOMA	-	-	-	-	CCBE1	ENST00000439986,p.G306S|uc002lib.3,p.G306S|uc002lia.3,p.G159S|NM_133459,p.G306S	retained_intron, protein_coding	uc002lib.3	nonsynonymous SNV	exon9	c.G916A	p.G306S	LSHIKQGRRGPVGPPGAPGRDGSKG	LSHIKQGRRGPVSPPGAPGRDGSKG	2.0	1.0	unscreened	-	3713_18:57106810-57106810 C>T_LSHIKQGRRGPVSPPGAPGRDGSKG
13:111117923-111117923 C>T	1.0	3713	MELANOMA	0.0	-	ID=COSM1300020;OCCURENCE=1(urinary_tract)	-	COL4A2	ENST00000360467,p.P650S|uc001vqx.3,p.P650S|NM_001846,p.P650S	protein_coding, processed_transcript	uc001vqx.3	nonsynonymous SNV	exon25	c.C1948T	p.P650S	AGLPGPPGFLGPPGPAGTPGQIDCD	AGLPGPPGFLGPSGPAGTPGQIDCD	8.0	2.0	unscreened	-	3713_13:111117923-111117923 C>T_AGLPGPPGFLGPSGPAGTPGQIDCD
8:8234777-8234777 G>A	0.0	3713	MELANOMA	-	-	-	-	SGK223	ENST00000330777,p.P381L|uc003wsh.4,p.P381L|ENST00000520004,p.P381L	protein_coding	uc003wsh.4	nonsynonymous SNV	exon2	c.C1142T	p.P381L	EPAPEKQQDPGCPGVTPSRCLGLTG	EPAPEKQQDPGCLGVTPSRCLGLTG	3.0	2.0	unscreened	-	3713_8:8234777-8234777 G>A_EPAPEKQQDPGCLGVTPSRCLGLTG
18:42530755-42530755 G>A	0.0	3713	MELANOMA	-	-	-	1	SETBP1	ENST00000282030,p.G484R|NM_015559,p.G484R|uc010dni.3,p.G484R	protein_coding	uc010dni.3	nonsynonymous SNV	exon4	c.G1450A	p.G484R	ENESPSVGLETGGNAEKVIPGGVSK	ENESPSVGLETGRNAEKVIPGGVSK	1.0	1.0	unscreened	-	3713_18:42530755-42530755 G>A_ENESPSVGLETGRNAEKVIPGGVSK
1:172417629-172417629 G>A	0.0	3713	MELANOMA	-	-	-	-	C1orf105	ENST00000367727,p.M52I|NM_139240,p.M52I|uc001gik.3,p.M52I|ENST00000488100,p.M23I	protein_coding, processed_transcript	uc001gik.3	nonsynonymous SNV	exon3	c.G156A	p.M52I	TSATFLTSSKKNMNLPILFQVPDVL	TSATFLTSSKKNINLPILFQVPDVL	1.0	3.0	unscreened	-	3713_1:172417629-172417629 G>A_TSATFLTSSKKNINLPILFQVPDVL
5:35065373-35065373 C>T	0.0	3713	MELANOMA	-	-	-	-	PRLR	uc003jjl.4,p.D462N|uc003jjm.3,p.D563N|ENST00000342362,p.D462N|ENST00000511486,p.D462N|NM_001204314,p.D462N|NM_000949,p.D563N|ENST00000382002,p.D563N	protein_coding, processed_transcript, nonsense_mediated_decay	uc003jjm.3	nonsynonymous SNV	exon10	c.G1687A	p.D563N	GVMDNNILVLVPDPHAKNVACFEES	GVMDNNILVLVPNPHAKNVACFEES	1.0	4.0	unscreened	-	3713_5:35065373-35065373 C>T_GVMDNNILVLVPNPHAKNVACFEES
16:67688512-67688512 C>T	0.0	3713	MELANOMA	-	-	-	-	RLTPR	ENST00000545661,p.R1131C|NM_001013838,p.R1167C|ENST00000334583,p.R1167C|uc010vjr.2,p.R1131C|uc002etn.3,p.R1167C	protein_coding	uc010vjr.2	nonsynonymous SNV	exon32	c.C3391T	p.R1131C	TSSPDPAGRSRPRYTRDSKAYSMIL	TSSPDPAGRSRPCYTRDSKAYSMIL	2.0	1.0	unscreened	-	3713_16:67688512-67688512 C>T_TSSPDPAGRSRPCYTRDSKAYSMIL
2:179613037-179613037 G>A	0.0	3713	MELANOMA	-	-	-	-	TTN	NM_133379,p.S4697F|uc002unb.3,p.S4697F|ENST00000360870,p.S4697F	retained_intron, protein_coding	uc002unb.3	nonsynonymous SNV	exon46	c.C14090T	p.S4697F	RTMVEKSSIDENSISLEKEVRHVQE	RTMVEKSSIDENFISLEKEVRHVQE	1.0	8.0	unscreened	-	3713_2:179613037-179613037 G>A_RTMVEKSSIDENFISLEKEVRHVQE
11:59611511-59611511 C>T	0.0	3713	MELANOMA	-	-	-	-	GIF	ENST00000541311,p.E8K	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000541311	nonsynonymous SNV	exon2	c.G22A	p.E8K	MAVPSAQEPLVNGIQVLMEN	MAVPSAQKPLVNGIQVLMEN	1.0	8.0	unscreened	-	3713_11:59611511-59611511 C>T_MAVPSAQKPLVNGIQVLMEN
12:108634157-108634157 G>A	0.0	3713	MELANOMA	-	-	-	-	WSCD2	uc001tmt.3,p.R394Q|ENST00000261400,p.R394Q|uc001tmu.3,p.R142Q|uc001tms.3,p.R394Q|ENST00000332082,p.R394Q|ENST00000547525,p.R394Q|ENST00000549903,p.R394Q|NM_014653,p.R394Q	retained_intron, protein_coding, processed_transcript	uc001tmu.3	nonsynonymous SNV	exon4	c.G425A	p.R142Q	GFKGERDHWRSGRTICIKTHESGQK	GFKGERDHWRSGQTICIKTHESGQK	1.0	9.0	unscreened	-	3713_12:108634157-108634157 G>A_GFKGERDHWRSGQTICIKTHESGQK
14:94089022-94089022 C>T	0.0	3713	MELANOMA	-	-	-	-	UNC79	uc001ybv.1,p.P1660S|ENST00000256339,p.P1638S|ENST00000555664,p.P1815S|ENST00000553484,p.P1837S|uc001ybs.1,p.P1638S|ENST00000393151,p.P1815S|NM_020818,p.P1638S	retained_intron, protein_coding	uc001ybv.1	nonsynonymous SNV	exon28	c.C4978T	p.P1660S	PDTSAESDTEQNPERKVEEDGAEES	PDTSAESDTEQNSERKVEEDGAEES	1.0	9.0	unscreened	-	3713_14:94089022-94089022 C>T_PDTSAESDTEQNSERKVEEDGAEES
3:50402536-50402536 C>T	0.0	3713	MELANOMA	-	-	-	-	CACNA2D2	NM_001291101,p.A991T|ENST00000423994,p.A1068T|NM_001005505,p.A1060T|ENST00000360963,p.A991T|ENST00000266039,p.A1060T	retained_intron, protein_coding, processed_transcript	NM_001291101	nonsynonymous SNV	exon36	c.G2971A	p.A991T	VVAEKPLCSQCEAGRLLQKETHCPA	VVAEKPLCSQCETGRLLQKETHCPA	1.0	2.0	unscreened	-	3713_3:50402536-50402536 C>T_VVAEKPLCSQCETGRLLQKETHCPA
6:127768485-127768485 C>T	0.0	3713	MELANOMA	-	-	-	-	KIAA0408	NM_014702,p.E327K|uc011ebs.2,p.E327K|uc003qbb.3,p.E210K|ENST00000483725,p.E327K|uc003qbc.3,p.E327K	retained_intron, protein_coding	uc011ebs.2	nonsynonymous SNV	exon5	c.G979A	p.E327K	LRQQEMSMLYPNEGKTSKDGIIFSS	LRQQEMSMLYPNKGKTSKDGIIFSS	1.0	1.0	unscreened	-	3713_6:127768485-127768485 C>T_LRQQEMSMLYPNKGKTSKDGIIFSS
1:57399065-57399065 C>T	0.0	3713	MELANOMA	-	-	-	-	C8B	uc001cyp.3,p.E499K|NM_001278544,p.E437K|uc010ooo.2,p.E447K|uc010oon.2,p.E437K|NM_001278543,p.E447K|ENST00000543257,p.E447K|ENST00000535057,p.E437K|NM_000066,p.E499K|ENST00000371237,p.E499K	retained_intron, protein_coding, processed_transcript	uc010ooo.2	nonsynonymous SNV	exon11	c.G1339A	p.E447K	QNMKQALEEFQKEVSSCHCAPCQGN	QNMKQALEEFQKKVSSCHCAPCQGN	1.0	1.0	unscreened	-	3713_1:57399065-57399065 C>T_QNMKQALEEFQKKVSSCHCAPCQGN
7:131831321-131831321 C>T	0.0	3713	MELANOMA	-	-	-	-	PLXNA4	ENST00000321063,p.R1668Q|uc003vra.4,p.R1668Q|ENST00000359827,p.R1668Q|NM_020911,p.R1668Q	retained_intron, protein_coding	uc003vra.4	nonsynonymous SNV	exon28	c.G5003A	p.R1668Q	KNHEHGDQKEGDRGSKMVSEIYLTR	KNHEHGDQKEGDQGSKMVSEIYLTR	1.0	1.0	unscreened	-	3713_7:131831321-131831321 C>T_KNHEHGDQKEGDQGSKMVSEIYLTR
20:6093144-6093144 G>A	0.0	3713	MELANOMA	-	-	-	-	FERMT1	ENST00000217289,p.P171L|NM_017671,p.P171L|uc002wms.3,p.P171L|uc002wmr.3,p.P171L	protein_coding, processed_transcript	uc002wms.3	nonsynonymous SNV	exon4	c.C512T	p.P171L	PIIEDILNLESSPTASGSSVSPGLY	PIIEDILNLESSLTASGSSVSPGLY	1.0	2.0	unscreened	-	3713_20:6093144-6093144 G>A_PIIEDILNLESSLTASGSSVSPGLY
8:24349461-24349461 G>A	0.0	3713	MELANOMA	-	-	-	-	ADAM7	ENST00000175238,p.D468N|uc003xec.3,p.D240N|NM_003817,p.D468N|uc003xeb.3,p.D468N|ENST00000520720,p.D240N|ENST00000380789,p.D468N	protein_coding	uc003xec.3	nonsynonymous SNV	exon8	c.G718A	p.D240N	AGSICRPAKDECDFPEMCTGHSPAC	AGSICRPAKDECNFPEMCTGHSPAC	1.0	3.0	unscreened	-	3713_8:24349461-24349461 G>A_AGSICRPAKDECNFPEMCTGHSPAC
5:79030683-79030683 C>T	0.0	3713	MELANOMA	-	-	-	-	CMYA5	NM_153610,p.S2032F|uc003kgc.3,p.S2032F|ENST00000446378,p.S2032F	retained_intron, protein_coding, processed_transcript	uc003kgc.3	nonsynonymous SNV	exon2	c.C6095T	p.S2032F	LLEKANTELSWPSKEDSQEKIKLPP	LLEKANTELSWPFKEDSQEKIKLPP	1.0	8.0	unscreened	-	3713_5:79030683-79030683 C>T_LLEKANTELSWPFKEDSQEKIKLPP
1:22915745-22915745 C>T	0.0	3713	MELANOMA	-	-	-	-	EPHA8	ENST00000538803,p.S454F|ENST00000374644,p.S454F|uc001bfw.3,p.S454F|NM_001006943,p.S454F	protein_coding	uc001bfw.3	nonsynonymous SNV	exon5	c.C1361T	p.S454F	RNSVPQRPGPPASPASDPSRDQSSA	RNSVPQRPGPPAFPASDPSRDQSSA	1.0	1.0	unscreened	-	3713_1:22915745-22915745 C>T_RNSVPQRPGPPAFPASDPSRDQSSA
6:31473645-31473645 G>A	1.0	3713	MELANOMA	-	-	-	-	MICB	NM_001289161,p.G108R|uc003nto.4,p.G108R|ENST00000399150,p.G108R	retained_intron, protein_coding	uc003nto.4	nonsynonymous SNV	exon2	c.G322A	p.G108R	LRRTLTHIKDQKGVPQSSRAQTLAM	LRRTLTHIKDQKRVPQSSRAQTLAM	6.0	1.0	unscreened	-	3713_6:31473645-31473645 G>A_LRRTLTHIKDQKRVPQSSRAQTLAM
11:117321309-117321309 G>A	0.0	3713	MELANOMA	-	-	-	-	DSCAML1	ENST00000321322,p.R1282C|NM_020693,p.R1282C|ENST00000527706,p.R1012C|uc001prh.1,p.R1282C	protein_coding	uc001prh.1	nonsynonymous SNV	exon20	c.C3844T	p.R1282C	SWLPPTKPNGVIRKYTIFCSSPGSG	SWLPPTKPNGVICKYTIFCSSPGSG	1.0	8.0	unscreened	-	3713_11:117321309-117321309 G>A_SWLPPTKPNGVICKYTIFCSSPGSG
17:59489905-59489905 G>A	0.0	3713	MELANOMA	-	-	-	-	C17orf82	ENST00000335108,p.R190Q	protein_coding	ENST00000335108	nonsynonymous SNV	exon1	c.G569A	p.R190Q	PGLGPRQLLTGPRDGAAGQGPGRGL	PGLGPRQLLTGPQDGAAGQGPGRGL	2.0	1.0	unscreened	-	3713_17:59489905-59489905 G>A_PGLGPRQLLTGPQDGAAGQGPGRGL
17:59489905-59489905 G>A	0.0	3713	MELANOMA	-	-	-	-	C17orf82	uc002izh.1,p.R190Q|NM_203425,p.R190Q	protein_coding	uc002izh.1	nonsynonymous SNV	exon1	c.G569A	p.R190Q	PGLGPRQLPTGPRDGAAGQGPGRGL	PGLGPRQLPTGPQDGAAGQGPGRGL	2.0	1.0	unscreened	-	3713_17:59489905-59489905 G>A_PGLGPRQLPTGPQDGAAGQGPGRGL
1:220863916-220863916 G>A	0.0	3713	MELANOMA	-	-	-	-	C1orf115	ENST00000294889,p.E58K|NM_024709,p.E58K|uc001hmp.1,p.E58K	protein_coding	uc001hmp.1	nonsynonymous SNV	exon1	c.G172A	p.E58K	EAAAESGTSAADERGPGTRGARRVH	EAAAESGTSAADKRGPGTRGARRVH	1.0	1.0	unscreened	-	3713_1:220863916-220863916 G>A_EAAAESGTSAADKRGPGTRGARRVH
17:10430031-10430031 C>T	0.0	3713	MELANOMA	-	-	-	-	MYH2	uc010coi.3,p.E1358K|ENST00000397183,p.E1358K|NM_001100112,p.E1358K|uc002gmp.4,p.E1358K|NM_017534,p.E1358K|ENST00000245503,p.E1358K	protein_coding	uc010coi.3	nonsynonymous SNV	exon30	c.G4072A	p.E1358K	CDLLREQYEEEQESKAELQRALSKA	CDLLREQYEEEQKSKAELQRALSKA	1.0	9.0	unscreened	-	3713_17:10430031-10430031 C>T_CDLLREQYEEEQKSKAELQRALSKA
16:28509183-28509183 G>A	1.0	3713	MELANOMA	-	-	-	-	APOBR	uc010byg.2,p.E470K|NM_018690,p.E941K|ENST00000431282,p.E932K|ENST00000328423,p.E932K|ENST00000564831,p.E941K|uc002dqb.2,p.E941K	protein_coding	uc010byg.2	nonsynonymous SNV	exon3	c.G1408A	p.E470K	RAEAKETEPESLEHVRGQEEQPTHQ	RAEAKETEPESLKHVRGQEEQPTHQ	4.0	9.0	unscreened	-	3713_16:28509183-28509183 G>A_RAEAKETEPESLKHVRGQEEQPTHQ
12:109865391-109865391 G>A	0.0	3713	MELANOMA	-	-	-	-	MYO1H	NM_001101421,p.R634K|uc010sxn.1,p.R634K|ENST00000310903,p.R634K|ENST00000431443,p.R644K	retained_intron, protein_coding, processed_transcript	uc010sxn.1	nonsynonymous SNV	exon18	c.G1901A	p.R634K	FAYRRKYEHFLQRYKSLCPDTWPHW	FAYRRKYEHFLQKYKSLCPDTWPHW	1.0	4.0	unscreened	-	3713_12:109865391-109865391 G>A_FAYRRKYEHFLQKYKSLCPDTWPHW
10:37431005-37431005 G>A	0.0	3713	MELANOMA	-	-	-	-	ANKRD30A	uc021ppc.1,p.E338K|NM_052997,p.E338K|ENST00000374660,p.E338K|ENST00000602533,p.E338K|uc001iza.1,p.E338K|ENST00000361713,p.E338K	protein_coding, processed_transcript	uc021ppc.1	nonsynonymous SNV	exon7	c.G1012A	p.E338K	KIAWEKKEDTPREIMSPAKETSEKF	KIAWEKKEDTPRKIMSPAKETSEKF	1.0	9.0	unscreened	-	3713_10:37431005-37431005 G>A_KIAWEKKEDTPRKIMSPAKETSEKF
12:7653999-7653999 C>T	0.0	3713	MELANOMA	-	-	-	-	CD163	ENST00000432237,p.E65K|ENST00000396620,p.E65K|NM_203416,p.E65K|ENST00000541972,p.E53K|uc009zfw.2,p.E65K|uc001qta.3,p.E65K|NM_004244,p.E65K|uc001qsz.3,p.E65K|ENST00000359156,p.E65K	retained_intron, protein_coding, processed_transcript	uc009zfw.2	nonsynonymous SNV	exon3	c.G193A	p.E65K	LVDGENKCSGRVEVKVQEEWGTVCN	LVDGENKCSGRVKVKVQEEWGTVCN	10.0	4.0	unscreened	-	3713_12:7653999-7653999 C>T_LVDGENKCSGRVKVKVQEEWGTVCN
17:61566469-61566469 G>A	0.0	3713	MELANOMA	-	-	-	-	ACE	NM_001178057,p.G299R|uc002jav.2,p.G299R|uc002jau.2,p.G873R|NM_152830,p.G299R|ENST00000582761,p.G129R|ENST00000290863,p.G299R|uc010wpj.2,p.G299R|uc031rdj.1,p.G873R|ENST00000577647,p.G299R|ENST00000428043,p.G873R|ENST00000490216,p.G299R|ENST00000290866,p.G873R|ENST00000413513,p.G299R|uc010ddv.2,p.G100R|NM_000789,p.G873R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rdj.1	nonsynonymous SNV	exon17	c.G2617A	p.G873R	HRHYGAQHINLEGPIPAHLLGNMWA	HRHYGAQHINLERPIPAHLLGNMWA	3.0	2.0	unscreened	-	3713_17:61566469-61566469 G>A_HRHYGAQHINLERPIPAHLLGNMWA
12:50189599-50189599 C>T	1.0	3713	MELANOMA	-	-	-	-	NCKAP5L	ENST00000335999,p.E682K|uc001rvb.2,p.E275K|NM_001037806,p.E682K|uc009zlk.2,p.E682K	retained_intron, protein_coding, processed_transcript	uc009zlk.2	nonsynonymous SNV	exon8	c.G2044A	p.E682K	KLKTGPEGALGSEKNGVPARPGTEK	KLKTGPEGALGSKKNGVPARPGTEK	6.0	9.0	unscreened	-	3713_12:50189599-50189599 C>T_KLKTGPEGALGSKKNGVPARPGTEK
8:69243494-69243494 C>T	0.0	3713	MELANOMA	-	-	-	-	C8orf34	ENST00000518698,p.H83Y|uc010lyz.3,p.H83Y|NM_052958,p.H83Y|uc010lyx.2,p.H83Y|uc010lyy.2,p.H83Y|NM_001195639,p.H83Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lyz.3	nonsynonymous SNV	exon1	c.C247T	p.H83Y	QPRVLPALSSRSHLFPMASHPQTRI	QPRVLPALSSRSYLFPMASHPQTRI	1.0	4.0	unscreened	-	3713_8:69243494-69243494 C>T_QPRVLPALSSRSYLFPMASHPQTRI
3:38645271-38645271 C>T	0.0	3713	MELANOMA	-	-	-	-	SCN5A	ENST00000333535,p.D608N|uc021wvu.1,p.D608N|uc021wvw.1,p.D219N|ENST00000451551,p.D608N|uc021wvq.1,p.D608N|ENST00000413689,p.D608N|uc021wvi.1,p.D474N|uc021wvl.1,p.D608N|uc021wvs.1,p.D608N|NM_198056,p.D608N|NM_001160161,p.D608N|ENST00000449557,p.D608N|ENST00000455624,p.D608N|ENST00000414099,p.D608N|uc021wvk.1,p.D608N|ENST00000443581,p.D608N|uc021wvp.1,p.D608N|uc021wvr.1,p.D608N|NM_001099405,p.D608N|uc021wvm.1,p.D608N|ENST00000423572,p.D608N|NM_000335,p.D608N|NM_001099404,p.D608N|ENST00000425664,p.D608N|ENST00000450102,p.D608N|uc021wvj.1,p.D474N|uc021wvo.1,p.D608N|uc021wvv.1,p.D608N|uc021wvt.1,p.D608N|uc021wvn.1,p.D608N|NM_001160160,p.D608N	retained_intron, protein_coding, processed_transcript	uc021wvw.1	nonsynonymous SNV	exon3	c.G655A	p.D219N	DCNGVVSLLGAGDPEATSPGSHLLR	DCNGVVSLLGAGNPEATSPGSHLLR	1.0	2.0	unscreened	-	3713_3:38645271-38645271 C>T_DCNGVVSLLGAGNPEATSPGSHLLR
7:82387980-82387980 C>T	0.0	3713	MELANOMA	-	-	-	-	PCLO	NM_033026,p.E5114K|uc003uhx.2,p.E5114K|ENST00000333891,p.E5114K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon25	c.G15340A	p.E5114K	NGGKFMKKTLIGEACIWLDKVDLRK	NGGKFMKKTLIGKACIWLDKVDLRK	2.0	8.0	unscreened	-	3713_7:82387980-82387980 C>T_NGGKFMKKTLIGKACIWLDKVDLRK
20:30607085-30607085 G>A	0.0	3713	MELANOMA	-	-	-	-	CCM2L	NM_080625,p.R269Q|uc002wxf.2,p.R269Q|ENST00000300415,p.R269Q|ENST00000262659,p.R269Q|ENST00000452892,p.R22Q	protein_coding	uc002wxf.2	nonsynonymous SNV	exon5	c.G806A	p.R269Q	GGGAGKPGGSWERRQAGSGGGGSWE	GGGAGKPGGSWEQRQAGSGGGGSWE	2.0	1.0	unscreened	-	3713_20:30607085-30607085 G>A_GGGAGKPGGSWEQRQAGSGGGGSWE
8:17163453-17163453 C>T	0.0	3713	MELANOMA	-	-	-	-	MTMR7	ENST00000180173,p.D389N|uc003wxm.3,p.D389N|uc003wxn.3,p.D168N|ENST00000521857,p.D389N|NM_004686,p.D389N|uc011kya.2,p.D23N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kya.2	nonsynonymous SNV	exon3	c.G67A	p.D23N	FGHKFNHRYGNLDGDPKEISPVIDQ	FGHKFNHRYGNLNGDPKEISPVIDQ	1.0	9.0	unscreened	-	3713_8:17163453-17163453 C>T_FGHKFNHRYGNLNGDPKEISPVIDQ
18:10773532-10773532 C>T	0.0	3713	MELANOMA	-	-	-	-	PIEZO2	uc002kos.2,p.G863E|ENST00000383408,p.G151E|ENST00000302079,p.G863E|ENST00000580640,p.G888E|ENST00000503781,p.G863E|uc002kou.2,p.G217E|NM_022068,p.G863E|ENST00000582913,p.G877E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kou.2	nonsynonymous SNV	exon6	c.G650A	p.G217E	LEKPEVRKLAEPGEEKLEGYSEKAQ	LEKPEVRKLAEPEEEKLEGYSEKAQ	2.0	2.0	-	-	3713_18:10773532-10773532 C>T_LEKPEVRKLAEPEEEKLEGYSEKAQ
6:31741146-31741146 C>T	0.0	3713	MELANOMA	-	-	-	-	VWA7	NM_025258,p.D264N|ENST00000447450,p.D264N|ENST00000375688,p.D264N|uc011dog.2,p.D264N|ENST00000375686,p.D264N	retained_intron, protein_coding, processed_transcript	uc011dog.2	nonsynonymous SNV	exon6	c.G790A	p.D264N	SSSQPPRGGINKDSTSPGFSPHHML	SSSQPPRGGINKNSTSPGFSPHHML	4.0	1.0	unscreened	-	3713_6:31741146-31741146 C>T_SSSQPPRGGINKNSTSPGFSPHHML
8:110465026-110465026 C>T	0.0	3713	MELANOMA	-	-	-	-	PKHD1L1	uc003yne.3,p.S2196F|NM_177531,p.S2196F|ENST00000378402,p.S2196F	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon43	c.C6587T	p.S2196F	FSWGGKSPPEEGSLVVITKGQTILL	FSWGGKSPPEEGFLVVITKGQTILL	1.0	4.0	unscreened	-	3713_8:110465026-110465026 C>T_FSWGGKSPPEEGFLVVITKGQTILL
5:39289018-39289018 C>T	0.0	3713	MELANOMA	-	-	ID=COSM136477;OCCURENCE=1(skin)	-	C9	uc003jlv.4,p.M484I|ENST00000263408,p.M484I|NM_001737,p.M484I	retained_intron, protein_coding, processed_transcript	uc003jlv.4	nonsynonymous SNV	exon10	c.G1452A	p.M484I	KLSPIYNLVPVKMKNAHLKKQNLER	KLSPIYNLVPVKIKNAHLKKQNLER	1.0	3.0	unscreened	-	3713_5:39289018-39289018 C>T_KLSPIYNLVPVKIKNAHLKKQNLER
8:105106920-105106920 G>A	0.0	3713	MELANOMA	-	-	-	-	RIMS2	uc003yls.3,p.E1037K|ENST00000436393,p.E1037K	retained_intron, protein_coding, processed_transcript	uc003yls.3	nonsynonymous SNV	exon22	c.G3109A	p.E1037K	HEQGKEKEQWNKEDLQRRFSQDDTS	HEQGKEKEQWNKKDLQRRFSQDDTS	1.0	1.0	unscreened	-	3713_8:105106920-105106920 G>A_HEQGKEKEQWNKKDLQRRFSQDDTS
20:34117096-34117096 C>T	0.0	3713	MELANOMA	-	-	-	-	C20orf173	uc010zvf.1,p.R36Q|ENST00000444723,p.R36Q|ENST00000374345,p.R36Q|NM_001145350,p.R36Q	protein_coding	uc010zvf.1	nonsynonymous SNV	exon2	c.G107A	p.R36Q	LDLTPESAPQEKRMYLVPQHCDCPW	LDLTPESAPQEKQMYLVPQHCDCPW	1.0	1.0	unscreened	-	3713_20:34117096-34117096 C>T_LDLTPESAPQEKQMYLVPQHCDCPW
7:76891536-76891536 G>A	0.0	3713	MELANOMA	-	-	-	-	CCDC146	uc010ldp.3,p.R108Q|uc003uga.3,p.R362Q|ENST00000285871,p.R362Q|NM_020879,p.R362Q|ENST00000431197,p.R108Q	retained_intron, protein_coding, processed_transcript	uc010ldp.3	nonsynonymous SNV	exon2	c.G323A	p.R108Q	LSRKQREKERDFRNLRKMELLLKVS	LSRKQREKERDFQNLRKMELLLKVS	5.0	3.0	unscreened	-	3713_7:76891536-76891536 G>A_LSRKQREKERDFQNLRKMELLLKVS
12:52710729-52710729 C>T	0.0	3713	MELANOMA	-	-	-	-	KRT83	ENST00000293670,p.D277N|uc001saf.2,p.D277N|NM_002282,p.D277N	protein_coding	uc001saf.2	nonsynonymous SNV	exon5	c.G829A	p.D277N	VVKLDNSRDLNMDCIVAEIKAQYDD	VVKLDNSRDLNMNCIVAEIKAQYDD	1.0	5.0	unscreened	-	3713_12:52710729-52710729 C>T_VVKLDNSRDLNMNCIVAEIKAQYDD
6:106552828-106552828 G>A	0.0	3713	MELANOMA	-	-	-	1	PRDM1	ENST00000369096,p.D265N|ENST00000450060,p.D144N|ENST00000369089,p.D131N|uc003prd.2,p.D265N|NM_001198,p.D265N|NM_182907,p.D131N|ENST00000369091,p.D229N|uc003pre.3,p.D131N	retained_intron, protein_coding	uc003pre.3	nonsynonymous SNV	exon3	c.G391A	p.D131N	ILKLDSNPSKGKDLYRSNISPLTSE	ILKLDSNPSKGKNLYRSNISPLTSE	6.0	6.0	unscreened	-	3713_6:106552828-106552828 G>A_ILKLDSNPSKGKNLYRSNISPLTSE
19:54803637-54803637 C>T	0.0	3713	MELANOMA	-	-	-	-	LILRA3	NM_001172654,p.E63K|uc002qfd.3,p.E63K|NM_006865,p.E63K|ENST00000391744,p.E63K|ENST00000251390,p.E63K|ENST00000391745,p.E80K|uc010erk.3,p.E63K	protein_coding	uc010erk.3	nonsynonymous SNV	exon3	c.G187A	p.E63K	GSLETQEYHLYREKKTALWITRIPQ	GSLETQEYHLYRKKKTALWITRIPQ	1.0	9.0	unscreened	-	3713_19:54803637-54803637 C>T_GSLETQEYHLYRKKKTALWITRIPQ
7:127252031-127252031 G>A	0.0	3713	MELANOMA	-	-	-	-	PAX4	ENST00000483494,p.P237S	retained_intron, protein_coding	ENST00000483494	nonsynonymous SNV	exon6	c.C709T	p.P237S	MQLPGASQGLTVPRVAPGIISAQGP	MQLPGASQGLTVSRVAPGIISAQGP	1.0	3.0	unscreened	-	3713_7:127252031-127252031 G>A_MQLPGASQGLTVSRVAPGIISAQGP
19:45206660-45206660 G>A	0.0	3713	MELANOMA	-	-	-	-	CEACAM16	ENST00000587331,p.E27K|NM_001039213,p.E27K|ENST00000405314,p.E27K|uc010xxd.2,p.E27K	protein_coding	uc010xxd.2	nonsynonymous SNV	exon3	c.G79A	p.E27K	FLNVGAEISITLEPAQPSEGDNVTL	FLNVGAEISITLKPAQPSEGDNVTL	1.0	2.0	unscreened	-	3713_19:45206660-45206660 G>A_FLNVGAEISITLKPAQPSEGDNVTL
2:54482714-54482714 C>T	0.0	3713	MELANOMA	-	-	-	-	TSPYL6	NM_001003937,p.G192E|ENST00000317802,p.G192E|uc002rxr.2,p.G192E	protein_coding	uc002rxr.2	nonsynonymous SNV	exon1	c.G575A	p.G192E	IDEVNREAGPGPGPGPLNVGLHLNP	IDEVNREAGPGPEPGPLNVGLHLNP	1.0	9.0	unscreened	-	3713_2:54482714-54482714 C>T_IDEVNREAGPGPEPGPLNVGLHLNP
6:30917535-30917535 G>A	0.0	3713	MELANOMA	-	-	-	-	DPCR1	NM_080870,p.E432K|uc003nsg.2,p.E432K|ENST00000462446,p.E432K	protein_coding	uc003nsg.2	nonsynonymous SNV	exon2	c.G1294A	p.E432K	STEHGERTPLANENTTPSPAEPTEN	STEHGERTPLANKNTTPSPAEPTEN	1.0	1.0	unscreened	-	3713_6:30917535-30917535 G>A_STEHGERTPLANKNTTPSPAEPTEN
8:144789273-144789273 G>A	0.0	3713	MELANOMA	-	-	-	-	CCDC166	uc011lkr.2,p.S304L|NM_001162914,p.S304L|ENST00000542437,p.S304L	protein_coding	uc011lkr.2	nonsynonymous SNV	exon2	c.C911T	p.S304L	SRPGSLAAPISPSRAASQTPSVVPS	SRPGSLAAPISPLRAASQTPSVVPS	1.0	4.0	unscreened	-	3713_8:144789273-144789273 G>A_SRPGSLAAPISPLRAASQTPSVVPS
7:31614327-31614327 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1199817,COSM1199818;OCCURENCE=2(large_intestine)	-	CCDC129	NM_001257967,p.R200Q|NM_001257968,p.R216Q|uc011kae.3,p.R216Q|ENST00000407970,p.R190Q|uc003tci.1,p.R189Q|uc011kad.1,p.R200Q|uc003tcj.1,p.R190Q|ENST00000451887,p.R216Q|ENST00000319386,p.R190Q|NM_194300,p.R190Q|ENST00000409210,p.R98Q|uc003tck.1,p.R98Q	retained_intron, protein_coding, processed_transcript	uc011kae.3	nonsynonymous SNV	exon7	c.G647A	p.R216Q	INIRVFLEAQKQRMDIENPNLYGRF	INIRVFLEAQKQQMDIENPNLYGRF	1.0	7.0	unscreened	-	3713_7:31614327-31614327 G>A_INIRVFLEAQKQQMDIENPNLYGRF
11:12315928-12315928 C>T	1.0	3713	MELANOMA	-	-	-	-	MICALCL	uc001mkg.1,p.T317I|ENST00000256186,p.T317I|NM_032867,p.T317I	protein_coding, processed_transcript	uc001mkg.1	nonsynonymous SNV	exon3	c.C950T	p.T317I	AQACTRSFSLRKTNSNKDGDQHSPG	AQACTRSFSLRKINSNKDGDQHSPG	1.0	8.0	unscreened	-	3713_11:12315928-12315928 C>T_AQACTRSFSLRKINSNKDGDQHSPG
5:132150299-132150299 G>A	0.0	3713	MELANOMA	-	-	-	-	SOWAHA	NM_175873,p.G329E|uc003kxw.3,p.G329E|ENST00000378693,p.G329E	protein_coding	uc003kxw.3	nonsynonymous SNV	exon1	c.G986A	p.G329E	RTAGGRWTHQLHGLLLRDRGLAAKR	RTAGGRWTHQLHELLLRDRGLAAKR	1.0	5.0	unscreened	-	3713_5:132150299-132150299 G>A_RTAGGRWTHQLHELLLRDRGLAAKR
8:82441839-82441839 C>T	0.0	3713	MELANOMA	-	-	-	-	FABP12	NM_001105281,p.G27E|ENST00000360464,p.G27E|uc011lfp.2,p.G27E	protein_coding, nonsense_mediated_decay	uc011lfp.2	nonsynonymous SNV	exon2	c.G80A	p.G27E	ENSEDYMKELGIGRASRKLGRLAKP	ENSEDYMKELGIERASRKLGRLAKP	1.0	2.0	unscreened	-	3713_8:82441839-82441839 C>T_ENSEDYMKELGIERASRKLGRLAKP
3:53766844-53766844 G>A	0.0	3713	MELANOMA	-	-	-	1	CACNA1D	ENST00000481478,p.G519R|ENST00000288139,p.G846R|uc003dgu.5,p.G846R|NM_000720,p.G846R|uc003dgw.4,p.G493R|uc003dgv.5,p.G826R|NM_001128840,p.G826R|ENST00000422281,p.G826R|NM_001128839,p.G826R|uc003dgy.5,p.G826R|ENST00000350061,p.G826R	retained_intron, protein_coding, processed_transcript	uc003dgy.5	nonsynonymous SNV	exon19	c.G2476A	p.G826R	DKDPYPPCDVPVGEEEEEEEEDEPE	DKDPYPPCDVPVREEEEEEEEDEPE	1.0	1.0	unscreened	-	3713_3:53766844-53766844 G>A_DKDPYPPCDVPVREEEEEEEEDEPE
1:157769875-157769875 C>T	0.0	3713	MELANOMA	-	-	ID=COSM244486;OCCURENCE=1(prostate)	-	FCRL1	uc001fri.3,p.G296E|NM_001159397,p.G296E|ENST00000358292,p.G296E	protein_coding, processed_transcript	uc001fri.3	nonsynonymous SNV	exon6	c.G887A	p.G296E	AQRSEAVTLNFTGRRSARDPLRSLP	AQRSEAVTLNFTERRSARDPLRSLP	3.0	2.0	unscreened	-	3713_1:157769875-157769875 C>T_AQRSEAVTLNFTERRSARDPLRSLP
19:40380672-40380672 C>T	0.0	3713	MELANOMA	-	-	-	-	FCGBP	NM_003890,p.G3548D|uc002omp.4,p.G3548D|ENST00000221347,p.G3548D	protein_coding, processed_transcript	uc002omp.4	nonsynonymous SNV	exon23	c.G10643A	p.G3548D	FQCPAHSHYELCGDSCPGSCPSLSA	FQCPAHSHYELCDDSCPGSCPSLSA	2.0	1.0	unscreened	-	3713_19:40380672-40380672 C>T_FQCPAHSHYELCDDSCPGSCPSLSA
12:52450319-52450319 C>T	1.0	3713	MELANOMA	-	-	-	-	NR4A1	uc010sno.2,p.P363S|ENST00000360284,p.P363S|NM_173157,p.P350S|ENST00000243050,p.P350S|NM_001202233,p.P363S|NM_002135,p.P350S|uc001rzt.3,p.P350S|uc001rzs.3,p.P350S|ENST00000550082,p.P363S|ENST00000545748,p.P404S|NM_001202234,p.P404S|ENST00000394824,p.P350S|ENST00000394825,p.P350S	retained_intron, protein_coding, processed_transcript	uc010sno.2	nonsynonymous SNV	exon5	c.C1087T	p.P363S	RTDSLKGRRGRLPSKPKQPPDASPA	RTDSLKGRRGRLSSKPKQPPDASPA	7.0	9.0	unscreened	-	3713_12:52450319-52450319 C>T_RTDSLKGRRGRLSSKPKQPPDASPA
12:11545882-11545882 G>A	0.0	3713	MELANOMA	-	-	-	-	PRB2	ENST00000389362,p.P377L|uc010shk.1,p.P377L|NM_006248,p.P377L	protein_coding, processed_transcript	uc010shk.1	nonsynonymous SNV	exon3	c.C1130T	p.P377L	KPQGPPQQEGNNPQGPPPPAGGNPQ	KPQGPPQQEGNNLQGPPPPAGGNPQ	1.0	1.0	unscreened	-	3713_12:11545882-11545882 G>A_KPQGPPQQEGNNLQGPPPPAGGNPQ
11:46391078-46391078 C>T	1.0	3713	MELANOMA	-	-	-	-	DGKZ	uc010rgr.2,p.S164L|ENST00000421244,p.S160L|ENST00000456247,p.S159L|uc001ncn.1,p.S348L|uc001nch.2,p.S176L|NM_001105540,p.S348L|ENST00000343674,p.S176L|uc001ncl.2,p.S160L|ENST00000527911,p.S160L|ENST00000454345,p.S348L|ENST00000395574,p.S126L|ENST00000532868,p.S164L|NM_001199266,p.S160L|uc001ncm.2,p.S159L|NM_201533,p.S164L|uc009yky.1,p.S160L|NM_003646,p.S160L|NM_001199267,p.S159L|NM_201532,p.S176L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rgr.2	nonsynonymous SNV	exon5	c.C491T	p.S164L	KINFRCKPSFRESGSRNVREPTFVR	KINFRCKPSFRELGSRNVREPTFVR	8.0	7.0	-	-	3713_11:46391078-46391078 C>T_KINFRCKPSFRELGSRNVREPTFVR
11:46391078-46391078 C>T	1.0	3713	MELANOMA	-	-	-	-	DGKZ	ENST00000524448,p.S44L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000524448	nonsynonymous SNV	exon2	c.C131T	p.S44L	LINFRCKPSFRESGSRNVREPTFVR	LINFRCKPSFRELGSRNVREPTFVR	8.0	7.0	unscreened	-	3713_11:46391078-46391078 C>T_LINFRCKPSFRELGSRNVREPTFVR
3:50402536-50402536 C>T	0.0	3713	MELANOMA	-	-	-	-	CACNA2D2	ENST00000435965,p.A1067T|ENST00000395083,p.A1060T	retained_intron, protein_coding, processed_transcript	ENST00000435965	nonsynonymous SNV	exon37	c.G3199A	p.A1067T	VVAEKPLCSQCEAGRLLQKETHCCP	VVAEKPLCSQCETGRLLQKETHCCP	1.0	2.0	unscreened	-	3713_3:50402536-50402536 C>T_VVAEKPLCSQCETGRLLQKETHCCP
10:61844474-61844474 C>T	0.0	3713	MELANOMA	-	-	-	-	ANK3	ENST00000373827,p.M1314I|ENST00000503366,p.M1321I|uc009xpa.3,p.M454I|uc001jkz.4,p.M1314I|uc001jkx.3,p.M498I|NM_020987,p.M1320I|uc001jlb.1,p.M838I|NM_001204404,p.M1321I|uc001jkw.3,p.M454I|uc001jky.3,p.M1320I|ENST00000355288,p.M454I|NM_001204403,p.M1314I|ENST00000280772,p.M1320I|uc010qih.2,p.M1321I|NM_001149,p.M454I|uc001jla.1,p.M386I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qih.2	nonsynonymous SNV	exon33	c.G3963A	p.M1321I	VPYMAKFVVFAKMNDPVESSLRCFC	VPYMAKFVVFAKINDPVESSLRCFC	4.0	6.0	unscreened	-	3713_10:61844474-61844474 C>T_VPYMAKFVVFAKINDPVESSLRCFC
5:17275764-17275764 G>A	1.0	3713	MELANOMA	-	-	-	-	BASP1	ENST00000322611,p.E147K|uc003jfx.4,p.E147K|NM_006317,p.E147K|uc031siz.1,p.E147K|NM_001271606,p.E147K|uc021xws.1,p.E147K	protein_coding	uc031siz.1	nonsynonymous SNV	exon2	c.G439A	p.E147K	PAAGEEPSKEEGEPKKTEAPAAPAA	PAAGEEPSKEEGKPKKTEAPAAPAA	6.0	1.0	unscreened	-	3713_5:17275764-17275764 G>A_PAAGEEPSKEEGKPKKTEAPAAPAA
6:127899884-127899884 C>T	0.0	3713	MELANOMA	-	-	-	-	C6orf58	ENST00000329722,p.H119Y|uc003qbh.4,p.H119Y|NM_001010905,p.H119Y	protein_coding, processed_transcript	uc003qbh.4	nonsynonymous SNV	exon2	c.C355T	p.H119Y	TRRTNCGYESGDHMCISVDSWWADL	TRRTNCGYESGDYMCISVDSWWADL	1.0	2.0	unscreened	-	3713_6:127899884-127899884 C>T_TRRTNCGYESGDYMCISVDSWWADL
3:138724377-138724377 G>A	0.0	3713	MELANOMA	-	-	-	-	PRR23A	uc011bms.2,p.P245L|NM_001134659,p.P245L|ENST00000383163,p.P245L	protein_coding	uc011bms.2	nonsynonymous SNV	exon1	c.C734T	p.P245L	PLPPSPRVGSPGPHAHPPLPKRPPC	PLPPSPRVGSPGLHAHPPLPKRPPC	1.0	9.0	unscreened	-	3713_3:138724377-138724377 G>A_PLPPSPRVGSPGLHAHPPLPKRPPC
8:53062479-53062479 C>T	0.0	3713	MELANOMA	-	-	-	-	ST18	uc011ldr.1,p.R587Q|uc003xqz.2,p.R622Q|uc011lds.1,p.R527Q|uc011ldq.1,p.R269Q|uc003xra.2,p.R622Q|ENST00000276480,p.R622Q|NM_014682,p.R622Q|uc003xrb.2,p.R622Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lds.1	nonsynonymous SNV	exon11	c.G1580A	p.R527Q	ENGTLDLSMKKNRILDKSAPLTSSN	ENGTLDLSMKKNQILDKSAPLTSSN	1.0	2.0	unscreened	-	3713_8:53062479-53062479 C>T_ENGTLDLSMKKNQILDKSAPLTSSN
4:100205765-100205765 G>A	0.0	3713	MELANOMA	-	-	-	-	ADH1A	ENST00000209668,p.P120S|uc003hur.2,p.P120S|NM_000667,p.P120S	retained_intron, protein_coding, processed_transcript	uc003hur.2	nonsynonymous SNV	exon5	c.C358T	p.P120S	ESNYCLKNDVSNPQGTLQDGTSRFT	ESNYCLKNDVSNSQGTLQDGTSRFT	1.0	9.0	unscreened	-	3713_4:100205765-100205765 G>A_ESNYCLKNDVSNSQGTLQDGTSRFT
5:140476577-140476577 C>T	1.0	3713	MELANOMA	-	-	-	-	PCDHB2	NM_018936,p.P735S|uc003lim.1,p.P396S|uc003lil.3,p.P735S|ENST00000194155,p.P735S	protein_coding	uc003lim.1	nonsynonymous SNV	exon2	c.C1186T	p.P396S	SVGRCSVPEGPFPGQMVDVSGTGTL	SVGRCSVPEGPFSGQMVDVSGTGTL	2.0	7.0	unscreened	-	3713_5:140476577-140476577 C>T_SVGRCSVPEGPFSGQMVDVSGTGTL
15:101602845-101602845 G>A	0.0	3713	MELANOMA	-	-	-	-	LRRK1	NM_024652,p.D1622N|ENST00000284395,p.D1619N|ENST00000388948,p.D1622N|uc002bwr.3,p.D1622N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bwr.3	nonsynonymous SNV	exon31	c.G4864A	p.D1622N	GMCPLNTPQQALDTPAVVTCFLAVP	GMCPLNTPQQALNTPAVVTCFLAVP	3.0	7.0	unscreened	-	3713_15:101602845-101602845 G>A_GMCPLNTPQQALNTPAVVTCFLAVP
6:117086651-117086651 C>T	0.0	3713	MELANOMA	-	-	-	-	FAM162B	NM_001085480,p.R30Q|uc003pxi.2,p.R30Q|ENST00000368557,p.R30Q	protein_coding	uc003pxi.2	nonsynonymous SNV	exon1	c.G89A	p.R30Q	RCGPGAPLEATRRPAPALPPRGLPC	RCGPGAPLEATRQPAPALPPRGLPC	3.0	3.0	unscreened	-	3713_6:117086651-117086651 C>T_RCGPGAPLEATRQPAPALPPRGLPC
19:48305294-48305294 C>T	0.0	3713	MELANOMA	-	-	-	-	TPRX1	NM_198479,p.G325E|ENST00000535759,p.G422E|ENST00000543508,p.G315E|uc002php.2,p.G325E|ENST00000322175,p.G325E	protein_coding	uc002php.2	nonsynonymous SNV	exon2	c.G974A	p.G325E	GSGSVPAPIPGPGSLPAPAPLWPQS	GSGSVPAPIPGPESLPAPAPLWPQS	1.0	2.0	unscreened	-	3713_19:48305294-48305294 C>T_GSGSVPAPIPGPESLPAPAPLWPQS
6:22570186-22570186 G>A	0.0	3713	MELANOMA	-	-	-	-	HDGFL1	ENST00000230012,p.E128K|NM_138574,p.E128K|ENST00000510882,p.E128K|uc003nds.3,p.E128K	protein_coding	uc003nds.3	nonsynonymous SNV	exon1	c.G382A	p.E128K	EDKPTHAGGGGDELGKPDDDKPTEE	EDKPTHAGGGGDKLGKPDDDKPTEE	1.0	1.0	unscreened	-	3713_6:22570186-22570186 G>A_EDKPTHAGGGGDKLGKPDDDKPTEE
1:1133105-1133105 G>A	0.0	3713	MELANOMA	-	-	-	-	TTLL10	ENST00000379290,p.D634N|NM_001130045,p.D634N|uc010nyg.1,p.D634N|ENST00000379289,p.D634N|uc001acy.2,p.D634N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010nyg.1	nonsynonymous SNV	exon16	c.G1900A	p.D634N	PRPPGPDLDSAHDGEPQAPGTEQSG	PRPPGPDLDSAHNGEPQAPGTEQSG	1.0	9.0	unscreened	-	3713_1:1133105-1133105 G>A_PRPPGPDLDSAHNGEPQAPGTEQSG
17:39240729-39240729 A>G	0.0	3713	MELANOMA	-	-	-	-	KRTAP4-7	ENST00000391417,p.M91V|uc010wfn.2,p.M91V|NM_033061,p.M91V	protein_coding	uc010wfn.2	nonsynonymous SNV	exon1	c.A271G	p.M91V	CCISSCCRPSCCMSSCCKPQCCQSV	CCISSCCRPSCCVSSCCKPQCCQSV	1.0	1.0	unscreened	-	3713_17:39240729-39240729 A>G_CCISSCCRPSCCVSSCCKPQCCQSV
12:80735917-80735917 G>A	0.0	3713	MELANOMA	-	-	-	-	OTOGL	uc001szd.3,p.R1738K|ENST00000458043,p.R1738K|NM_173591,p.R1738K|ENST00000547103,p.R1726K	protein_coding, nonsense_mediated_decay	uc001szd.3	nonsynonymous SNV	exon43	c.G5213A	p.R1738K	HDCSQCIDLLNRRIFIPCHDKVSPE	HDCSQCIDLLNRKIFIPCHDKVSPE	1.0	6.0	unscreened	-	3713_12:80735917-80735917 G>A_HDCSQCIDLLNRKIFIPCHDKVSPE
15:54825158-54825158 G>A	0.0	3713	MELANOMA	-	-	-	-	UNC13C	ENST00000545554,p.E1864K|uc021sms.1,p.E1864K|NM_001080534,p.E1864K|ENST00000537900,p.E1862K|ENST00000260323,p.E1864K	retained_intron, protein_coding	uc021sms.1	nonsynonymous SNV	exon25	c.G5590A	p.E1864K	VIIEECIKQMSFELNQMRANGNTTS	VIIEECIKQMSFKLNQMRANGNTTS	1.0	2.0	unscreened	-	3713_15:54825158-54825158 G>A_VIIEECIKQMSFKLNQMRANGNTTS
12:54349218-54349218 G>A	0.0	3713	MELANOMA	-	-	-	-	HOXC12	NM_173860,p.D169N|uc010soq.2,p.D169N|ENST00000243103,p.D169N	protein_coding	uc010soq.2	nonsynonymous SNV	exon1	c.G505A	p.D169N	PHDPPSCQSLESDSSSSLLNEGNKG	PHDPPSCQSLESNSSSSLLNEGNKG	1.0	1.0	unscreened	-	3713_12:54349218-54349218 G>A_PHDPPSCQSLESNSSSSLLNEGNKG
16:71127770-71127770 C>T	0.0	3713	MELANOMA	-	-	-	-	HYDIN	ENST00000448691,p.E466K|ENST00000321489,p.E466K|uc002ezw.4,p.E483K|NM_017558,p.E466K|uc010cfz.2,p.E211K|uc010vmd.2,p.E493K|ENST00000393552,p.E84K|ENST00000393550,p.E466K|ENST00000538248,p.E493K|NM_001270974,p.E466K|uc010vmc.2,p.E483K|ENST00000541601,p.E483K|ENST00000288168,p.E483K|NM_001198542,p.E493K|NM_001198543,p.E483K|ENST00000545230,p.E254K|ENST00000393567,p.E466K|uc031qwy.1,p.E466K|uc021tkq.2,p.E466K|ENST00000448089,p.E466K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon11	c.G1396A	p.E466K	GEGMGPKIHFNFELLDIGKVFTGSA	GEGMGPKIHFNFKLLDIGKVFTGSA	1.0	7.0	unscreened	-	3713_16:71127770-71127770 C>T_GEGMGPKIHFNFKLLDIGKVFTGSA
19:48522991-48522991 C>T	0.0	3713	MELANOMA	-	-	-	-	ELSPBP1	NM_022142,p.S124F|uc002pht.3,p.S124F|ENST00000596043,p.S78F|ENST00000339841,p.S124F	protein_coding	uc002pht.3	nonsynonymous SNV	exon5	c.C371T	p.S124F	WKFCETNEYGGNSLRKPCIFPSIYR	WKFCETNEYGGNFLRKPCIFPSIYR	1.0	7.0	unscreened	-	3713_19:48522991-48522991 C>T_WKFCETNEYGGNFLRKPCIFPSIYR
11:64375023-64375023 G>A	0.0	3713	MELANOMA	-	-	-	-	NRXN2	ENST00000377559,p.P1525L|uc021qkw.1,p.P1595L|NM_138732,p.P1525L|ENST00000409571,p.P1588L|uc001oaq.3,p.P1262L|uc001oas.3,p.P1525L|uc001oap.3,p.P549L|uc021qkx.1,p.P1525L|uc001oao.3,p.P235L|ENST00000377551,p.P1595L|ENST00000265459,p.P1595L|NM_015080,p.P1595L|NM_138734,p.P549L|ENST00000301894,p.P549L	retained_intron, protein_coding, processed_transcript	uc021qkx.1	nonsynonymous SNV	exon20	c.C4574T	p.P1525L	GAPTSFEPRRPPPLRPGVTSAPGFP	GAPTSFEPRRPPLLRPGVTSAPGFP	2.0	2.0	unscreened	-	3713_11:64375023-64375023 G>A_GAPTSFEPRRPPLLRPGVTSAPGFP
19:38985106-38985106 G>A	0.0	3713	MELANOMA	-	-	-	-	RYR1	ENST00000359596,p.G2130E|ENST00000360985,p.G2130E|NM_000540,p.G2130E|uc002oiu.3,p.G2130E|NM_001042723,p.G2130E|uc002oit.3,p.G2130E|ENST00000355481,p.G2130E	retained_intron, protein_coding, nonsense_mediated_decay	uc002oiu.3	nonsynonymous SNV	exon39	c.G6389A	p.G2130E	RAMFSLLHRQYDGLGELLRALPRAY	RAMFSLLHRQYDELGELLRALPRAY	1.0	7.0	unscreened	-	3713_19:38985106-38985106 G>A_RAMFSLLHRQYDELGELLRALPRAY
7:133943116-133943116 G>A	0.0	3713	MELANOMA	-	-	-	-	LRGUK	ENST00000285928,p.G769E|NM_144648,p.G769E|uc003vrm.1,p.G769E	protein_coding, processed_transcript	uc003vrm.1	nonsynonymous SNV	exon19	c.G2306A	p.G769E	FQPPEGSISSHLGSGASDSETEETR	FQPPEGSISSHLESGASDSETEETR	1.0	1.0	unscreened	-	3713_7:133943116-133943116 G>A_FQPPEGSISSHLESGASDSETEETR
17:74014199-74014199 C>T	0.0	3713	MELANOMA	-	-	-	-	EVPL	uc010wss.1,p.R527K|ENST00000586740,p.R527K	retained_intron, protein_coding	uc010wss.1	nonsynonymous SNV	exon13	c.G1580A	p.R527K	QGGPGRGGCGARRSRFRLPTAPSGS	QGGPGRGGCGARKSRFRLPTAPSGS	1.0	9.0	unscreened	-	3713_17:74014199-74014199 C>T_QGGPGRGGCGARKSRFRLPTAPSGS
6:139264705-139264705 C>G	1.0	3713	MELANOMA	-	-	-	-	REPS1	uc003qii.3,p.A309P|ENST00000415951,p.A309P|NM_001286612,p.A309P|NM_001128617,p.A309P|ENST00000258062,p.A309P|ENST00000450536,p.A309P|ENST00000529597,p.A295P|ENST00000409812,p.A309P|uc011edr.2,p.A309P|NM_001286611,p.A309P|ENST00000431346,p.A74P|uc003qij.3,p.A309P|uc003qig.4,p.A309P|NM_031922,p.A309P|ENST00000367663,p.A309P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011edr.2	nonsynonymous SNV	exon7	c.G925C	p.A309P	QPDLNGFIPGSAAKEFFTKSKLPIL	QPDLNGFIPGSAPKEFFTKSKLPIL	5.0	8.0	-	-	3713_6:139264705-139264705 C>G_QPDLNGFIPGSAPKEFFTKSKLPIL
20:43379267-43379267 C>T	0.0	3713	MELANOMA	-	-	-	-	KCNK15	ENST00000372861,p.P261S|NM_022358,p.P261S|uc002xmr.3,p.P261S	protein_coding	uc002xmr.3	nonsynonymous SNV	exon2	c.C781T	p.P261S	ASADWPERAARTPSPRPPGAPESRG	ASADWPERAARTSSPRPPGAPESRG	1.0	9.0	unscreened	-	3713_20:43379267-43379267 C>T_ASADWPERAARTSSPRPPGAPESRG
4:69434052-69434052 G>A	0.0	3713	MELANOMA	-	-	-	-	UGT2B17	ENST00000317746,p.H51Y|NM_001077,p.H51Y|uc021xov.1,p.H51Y	protein_coding	uc021xov.1	nonsynonymous SNV	exon1	c.C151T	p.H51Y	MKTILEELVQRGHEVIVLTSSASIL	MKTILEELVQRGYEVIVLTSSASIL	1.0	5.0	unscreened	-	3713_4:69434052-69434052 G>A_MKTILEELVQRGYEVIVLTSSASIL
5:35776457-35776457 G>A	0.0	3713	MELANOMA	-	-	-	-	SPEF2	NM_024867,p.E1393K|uc003jjp.1,p.E879K|ENST00000440995,p.E1388K|ENST00000356031,p.E1393K|uc003jjo.3,p.E1393K	retained_intron, protein_coding, nonsense_mediated_decay	uc003jjp.1	nonsynonymous SNV	exon19	c.G2635A	p.E879K	LVTKVVDVYKLMEKWLGERYLNEMA	LVTKVVDVYKLMKKWLGERYLNEMA	1.0	3.0	unscreened	-	3713_5:35776457-35776457 G>A_LVTKVVDVYKLMKKWLGERYLNEMA
2:160994584-160994584 C>T	0.0	3713	MELANOMA	-	-	-	-	ITGB6	ENST00000283249,p.G412R|uc010zcq.1,p.G370R|NM_001282355,p.G412R|uc010fov.1,p.G412R|NM_001282353,p.G412R|NM_001282354,p.G317R|ENST00000409967,p.G412R|ENST00000428609,p.G370R|NM_001282389,p.G339R|uc010fou.2,p.G412R|NM_000888,p.G412R|NM_001282390,p.G274R|uc002ubh.2,p.G412R|ENST00000409872,p.G412R|NM_001282388,p.G370R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zcq.1	nonsynonymous SNV	exon8	c.G1108A	p.G370R	FQHQKKCSHMKVGDTASFSVTVNIP	FQHQKKCSHMKVRDTASFSVTVNIP	1.0	4.0	unscreened	-	3713_2:160994584-160994584 C>T_FQHQKKCSHMKVRDTASFSVTVNIP
2:179912067-179912067 G>T	0.0	3713	MELANOMA	-	-	-	-	CCDC141	ENST00000420890,p.Q57K|ENST00000409284,p.Q57K|uc002une.2,p.Q57K|NM_173648,p.Q57K|uc002ung.3,p.Q57K|ENST00000446116,p.Q57K|ENST00000443758,p.Q57K	protein_coding, processed_transcript	uc002ung.3	nonsynonymous SNV	exon2	c.C169A	p.Q57K	ESQPNLLEIGSSQDETKKLLHDHEL	ESQPNLLEIGSSKDETKKLLHDHEL	1.0	1.0	unscreened	-	3713_2:179912067-179912067 G>T_ESQPNLLEIGSSKDETKKLLHDHEL
5:23527752-23527752 G>A	0.0	3713	MELANOMA	-	-	-	-	PRDM9	ENST00000296682,p.R852K|NM_020227,p.R852K|uc003jgo.3,p.R852K	protein_coding	uc003jgo.3	nonsynonymous SNV	exon11	c.G2555A	p.R852K	GFRNKSHLLRHQRTHTGEKPYVCRE	GFRNKSHLLRHQKTHTGEKPYVCRE	1.0	9.0	unscreened	-	3713_5:23527752-23527752 G>A_GFRNKSHLLRHQKTHTGEKPYVCRE
10:96609774-96609774 G>A	0.0	3713	MELANOMA	-	-	ID=COSM232122;OCCURENCE=1(skin)	-	CYP2C19	NM_000769,p.G417E|uc010qnz.2,p.G417E|uc010qny.2,p.G395E|ENST00000371321,p.G417E	protein_coding, processed_transcript	uc010qnz.2	nonsynonymous SNV	exon8	c.G1250A	p.G417E	EMFDPRHFLDEGGNFKKSNYFMPFS	EMFDPRHFLDEGENFKKSNYFMPFS	1.0	6.0	unscreened	-	3713_10:96609774-96609774 G>A_EMFDPRHFLDEGENFKKSNYFMPFS
4:185940985-185940985 G>A	0.0	3713	MELANOMA	-	-	-	-	HELT	uc011cko.2,p.G73R|ENST00000338875,p.G158R|NM_001300781,p.G73R|ENST00000515777,p.G73R|uc011ckq.2,p.G158R	retained_intron, protein_coding	uc011ckq.2	nonsynonymous SNV	exon3	c.G472A	p.G158R	YLRALHSADFPRGREKAELLAEFAN	YLRALHSADFPRRREKAELLAEFAN	1.0	9.0	unscreened	-	3713_4:185940985-185940985 G>A_YLRALHSADFPRRREKAELLAEFAN
11:113630943-113630943 G>A	1.0	3713	MELANOMA	-	-	-	-	ZW10	ENST00000535142,p.P190S|NM_004724,p.P190S|ENST00000200135,p.P190S|uc001poe.3,p.P190S	protein_coding, nonsense_mediated_decay	uc001poe.3	nonsynonymous SNV	exon5	c.C568T	p.P190S	GEEWQKLIVWKFPPSKDTSSLESYL	GEEWQKLIVWKFSPSKDTSSLESYL	3.0	2.0	-	-	3713_11:113630943-113630943 G>A_GEEWQKLIVWKFSPSKDTSSLESYL
2:231774792-231774792 G>A	0.0	3713	MELANOMA	-	-	ID=COSM3709468;OCCURENCE=2(liver)	-	GPR55	ENST00000392040,p.R296C|uc021vxz.1,p.R296C|ENST00000444078,p.R296C|NM_005683,p.R296C|ENST00000392039,p.R296C|uc010fxs.1,p.R296C|uc002vrg.3,p.R296C	protein_coding, nonsense_mediated_decay	uc021vxz.1	nonsynonymous SNV	exon1	c.C886T	p.R296C	DVFCYYFVIKEFRMNIRAHRPSRVQ	DVFCYYFVIKEFCMNIRAHRPSRVQ	1.0	4.0	unscreened	-	3713_2:231774792-231774792 G>A_DVFCYYFVIKEFCMNIRAHRPSRVQ
11:45671264-45671264 C>T	0.0	3713	MELANOMA	-	-	-	-	CHST1	ENST00000308064,p.E404K|uc021qgn.1,p.E404K|NM_003654,p.E404K|uc001mys.2,p.E404K	retained_intron, protein_coding, processed_transcript	uc021qgn.1	nonsynonymous SNV	exon1	c.G1210A	p.E404K	EELKNPSVSLVEERDFRPFS	EELKNPSVSLVEKRDFRPFS	2.0	9.0	unscreened	-	3713_11:45671264-45671264 C>T_EELKNPSVSLVEKRDFRPFS
1:155156283-155156283 G>A	1.0	3713	MELANOMA	-	-	-	-	TRIM46	uc001fhs.2,p.D633N|NM_001256600,p.D591N|uc031pps.1,p.D620N|NM_025058,p.D633N|uc010pfa.2,p.D507N|ENST00000334634,p.D633N|uc001fhu.2,p.D610N|NM_001256599,p.D610N|ENST00000545012,p.D507N|NM_001256601,p.D620N|ENST00000368382,p.D610N|NM_001282378,p.D507N	protein_coding, processed_transcript	uc031pps.1	nonsynonymous SNV	exon10	c.G1858A	p.D620N	GAPDVISPRYDPDSGHDSGAEDATV	GAPDVISPRYDPNSGHDSGAEDATV	4.0	1.0	-	-	3713_1:155156283-155156283 G>A_GAPDVISPRYDPNSGHDSGAEDATV
16:88501487-88501487 G>A	0.0	3713	MELANOMA	-	-	-	-	ZNF469	ENST00000565624,p.E2537K|NM_001127464,p.E2509K|uc002fku.2,p.E2509K|ENST00000437464,p.E2509K	protein_coding	uc002fku.2	nonsynonymous SNV	exon2	c.G7525A	p.E2509K	PPRKKSHRVSGKERPNHSRGDPSHV	PPRKKSHRVSGKKRPNHSRGDPSHV	2.0	1.0	unscreened	-	3713_16:88501487-88501487 G>A_PPRKKSHRVSGKKRPNHSRGDPSHV
7:1477983-1477983 G>A	1.0	3713	MELANOMA	0.0005	-	-	-	MICALL2	ENST00000413446,p.P667S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000413446	nonsynonymous SNV	exon10	c.C1999T	p.P667S	RRNLTFRANQGDPCPRPMSLLCLAR	RRNLTFRANQGDSCPRPMSLLCLAR	10.0	3.0	unscreened	-	3713_7:1477983-1477983 G>A_RRNLTFRANQGDSCPRPMSLLCLAR
5:71627141-71627141 T>A	1.0	3713	MELANOMA	-	-	-	-	PTCD2	ENST00000511752,p.L93M	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000511752	nonsynonymous SNV	exon3	c.T277A	p.L93M	ISLWGSINLDRFL	ISLWGSINLDRFM	4.0	7.0	unscreened	-	3713_5:71627141-71627141 T>A_ISLWGSINLDRFM
13:36223799-36223799 T>A	1.0	3713	MELANOMA	-	-	-	2	NBEA	ENST00000379939,p.L2569H|ENST00000400445,p.L2572H|uc001uvd.3,p.L150H|uc010tef.2,p.L365H|uc021rid.1,p.L2572H|uc010abi.3,p.L1228H|NM_001204197,p.L365H|ENST00000540320,p.L2572H|ENST00000537702,p.L365H|uc010tee.1,p.L365H|ENST00000310336,p.L2572H|ENST00000379922,p.L150H|NM_015678,p.L2572H	protein_coding, processed_transcript	uc021rid.1	nonsynonymous SNV	exon51	c.T7715A	p.L2572H	HPPRSSAMHLCFLPQSPLMFKDQMQ	HPPRSSAMHLCFHPQSPLMFKDQMQ	3.0	5.0	unscreened	-	3713_13:36223799-36223799 T>A_HPPRSSAMHLCFHPQSPLMFKDQMQ
10:131639189-131639189 C>T	0.0	3713	MELANOMA	-	-	-	-	EBF3	NM_001005463,p.G485R|ENST00000355311,p.G494R|ENST00000368648,p.G485R|uc001lki.2,p.G485R|uc021qav.2,p.G485R	protein_coding, processed_transcript	uc021qav.2	nonsynonymous SNV	exon14	c.G1453A	p.G485R	NYNTVSTSMNGYGSGAMASLGVPGS	NYNTVSTSMNGYRSGAMASLGVPGS	1.0	3.0	unscreened	-	3713_10:131639189-131639189 C>T_NYNTVSTSMNGYRSGAMASLGVPGS
10:61832247-61832247 C>T	0.0	3713	MELANOMA	-	-	-	-	ANK3	NM_020987,p.E2798K|ENST00000280772,p.E2798K|uc001jky.3,p.E2798K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jky.3	nonsynonymous SNV	exon37	c.G8392A	p.E2798K	VLKTKDEHAQSNEIVVNDSGSDNVK	VLKTKDEHAQSNKIVVNDSGSDNVK	4.0	9.0	unscreened	-	3713_10:61832247-61832247 C>T_VLKTKDEHAQSNKIVVNDSGSDNVK
8:106814408-106814408 G>A	0.0	3713	MELANOMA	-	-	-	-	ZFPM2	ENST00000520492,p.E568K|uc011lhs.2,p.E431K|uc003ymd.3,p.E700K|NM_012082,p.E700K|ENST00000378472,p.E431K|ENST00000517361,p.E568K|ENST00000407775,p.E700K	protein_coding, processed_transcript	uc011lhs.2	nonsynonymous SNV	exon6	c.G1291A	p.E431K	TCEACNITFSRHETYMVHKQYYCAT	TCEACNITFSRHKTYMVHKQYYCAT	1.0	3.0	unscreened	-	3713_8:106814408-106814408 G>A_TCEACNITFSRHKTYMVHKQYYCAT
18:29775386-29775386 C>T	0.0	3713	MELANOMA	-	-	-	-	MEP1B	ENST00000581447,p.S63F|ENST00000581184,p.S31F|NM_005925,p.S63F|uc002kxj.4,p.S63F|ENST00000269202,p.S63F	retained_intron, protein_coding	uc002kxj.4	nonsynonymous SNV	exon5	c.C188T	p.S63F	GDIRLDRAQIRNSIIGEKYRWPHTI	GDIRLDRAQIRNFIIGEKYRWPHTI	1.0	5.0	unscreened	-	3713_18:29775386-29775386 C>T_GDIRLDRAQIRNFIIGEKYRWPHTI
3:13860782-13860782 G>A	0.0	3713	MELANOMA	-	-	-	-	WNT7A	uc003bye.1,p.H237Y|NM_004625,p.H237Y|ENST00000285018,p.H237Y	protein_coding, processed_transcript	uc003bye.1	nonsynonymous SNV	exon4	c.C709T	p.H237Y	GYVLKDKYNEAVHVEPVRASRNKRP	GYVLKDKYNEAVYVEPVRASRNKRP	1.0	4.0	unscreened	-	3713_3:13860782-13860782 G>A_GYVLKDKYNEAVYVEPVRASRNKRP
12:55361663-55361663 C>T	0.0	3713	MELANOMA	-	-	-	-	TESPA1	NM_001136030,p.G74R|uc010spd.2,p.G74R|uc001sgn.4,p.G74R|ENST00000449076,p.G74R|NM_001098815,p.G74R|ENST00000316577,p.G74R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010spd.2	nonsynonymous SNV	exon4	c.G220A	p.G74R	EDWLQDCGYSEEGFSEEAGQFIYNG	EDWLQDCGYSEERFSEEAGQFIYNG	3.0	4.0	unscreened	-	3713_12:55361663-55361663 C>T_EDWLQDCGYSEERFSEEAGQFIYNG
18:29111167-29111167 G>A	0.0	3713	MELANOMA	-	-	-	-	DSG2	uc002kwu.4,p.G411E|NM_001943,p.G411E|ENST00000261590,p.G411E	protein_coding	uc002kwu.4	nonsynonymous SNV	exon9	c.G1232A	p.G411E	ESMDRSSKGQIIGNFQAFDEDTGLP	ESMDRSSKGQIIENFQAFDEDTGLP	1.0	6.0	unscreened	-	3713_18:29111167-29111167 G>A_ESMDRSSKGQIIENFQAFDEDTGLP
21:31015174-31015174 C>T	0.0	3713	MELANOMA	-	-	-	-	GRIK1	ENST00000399914,p.G357E|ENST00000327783,p.G357E|NM_000830,p.G357E|NM_175611,p.G357E|uc002ynn.3,p.G357E|ENST00000399913,p.G357E|ENST00000399909,p.G357E|uc011act.2,p.G301E|uc011acs.2,p.G357E|uc002yno.1,p.G357E|ENST00000389124,p.G357E|ENST00000389125,p.G357E|uc002ynr.3,p.G357E|ENST00000399907,p.G357E|uc010glq.1,p.G215E	protein_coding, processed_transcript	uc011act.2	nonsynonymous SNV	exon6	c.G902A	p.G301E	SLQCHRHKPWRLGPRFMNLIKEARW	SLQCHRHKPWRLEPRFMNLIKEARW	1.0	3.0	unscreened	-	3713_21:31015174-31015174 C>T_SLQCHRHKPWRLEPRFMNLIKEARW
11:111154989-111154989 G>A	0.0	3713	MELANOMA	-	-	-	-	C11orf53	ENST00000280325,p.G66R|uc001plc.3,p.G66R|NM_198498,p.G66R	protein_coding	uc001plc.3	nonsynonymous SNV	exon3	c.G196A	p.G66R	ALLEPYFPQEPYGDYRPPALTPNAG	ALLEPYFPQEPYRDYRPPALTPNAG	1.0	2.0	unscreened	-	3713_11:111154989-111154989 G>A_ALLEPYFPQEPYRDYRPPALTPNAG
17:76127701-76127701 G>A	0.0	3713	MELANOMA	-	-	-	-	TMC8	NM_152468,p.R11Q|uc010dhh.1,p.R11Q|uc002jup.2,p.R11Q|ENST00000318430,p.R11Q|ENST00000590799,p.R11Q	retained_intron, protein_coding, processed_transcript	uc010dhh.1	nonsynonymous SNV	exon2	c.G32A	p.R11Q	MLLPRSVSSERAPGVPEPEELWE	MLLPRSVSSEQAPGVPEPEELWE	7.0	6.0	unscreened	-	3713_17:76127701-76127701 G>A_MLLPRSVSSEQAPGVPEPEELWE
2:131403816-131403816 C>T	0.0	3713	MELANOMA	-	-	-	-	POTEJ	NM_001277083,p.P534S|uc021vor.2,p.P534S|ENST00000409602,p.P534S	protein_coding	uc021vor.2	nonsynonymous SNV	exon13	c.C1600T	p.P534S	GATAGNGDDGLIPPRKSRTPESQQF	GATAGNGDDGLISPRKSRTPESQQF	1.0	1.0	unscreened	-	3713_2:131403816-131403816 C>T_GATAGNGDDGLISPRKSRTPESQQF
16:88496976-88496976 G>A	0.0	3713	MELANOMA	-	-	-	-	ZNF469	ENST00000565624,p.R1033K|uc002fku.2,p.R1033K|ENST00000437464,p.R1033K|NM_001127464,p.R1033K	protein_coding	uc002fku.2	nonsynonymous SNV	exon1	c.G3098A	p.R1033K	ETRSSRRRRLPPRKDPRKRKARGGA	ETRSSRRRRLPPKKDPRKRKARGGA	2.0	1.0	unscreened	-	3713_16:88496976-88496976 G>A_ETRSSRRRRLPPKKDPRKRKARGGA
7:100684005-100684005 G>A	0.0	3713	MELANOMA	-	-	-	-	MUC17	ENST00000379439,p.G3103E|NM_001040105,p.G3103E|ENST00000306151,p.G3103E|uc003uxp.1,p.G3103E	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.G9308A	p.G3103E	EGTSMPISTYSEGSTPLTGVPVSTT	EGTSMPISTYSEESTPLTGVPVSTT	1.0	5.0	unscreened	-	3713_7:100684005-100684005 G>A_EGTSMPISTYSEESTPLTGVPVSTT
1:74507096-74507096 C>T	0.0	3713	MELANOMA	-	-	-	-	LRRIQ3	NM_001105659,p.E507K|ENST00000354431,p.E507K|uc001dfy.4,p.E507K|ENST00000395089,p.E507K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001dfy.4	nonsynonymous SNV	exon7	c.G1519A	p.E507K	EKARERKALFLKEKSQKASERLLVQ	EKARERKALFLKKKSQKASERLLVQ	4.0	1.0	unscreened	-	3713_1:74507096-74507096 C>T_EKARERKALFLKKKSQKASERLLVQ
7:55886861-55886861 C>T	0.0	3713	MELANOMA	-	-	-	-	SEPT14	ENST00000388975,p.R259K|uc003tqz.2,p.R259K|NM_207366,p.R259K	protein_coding, processed_transcript	uc003tqz.2	nonsynonymous SNV	exon7	c.G776A	p.R259K	VVGSTDEVKVGKRMVRGRHYPWGVL	VVGSTDEVKVGKKMVRGRHYPWGVL	1.0	6.0	unscreened	-	3713_7:55886861-55886861 C>T_VVGSTDEVKVGKKMVRGRHYPWGVL
20:15866443-15866443 G>A	0.0	3713	MELANOMA	-	-	-	-	MACROD2	uc002wpb.3,p.M19I|uc002wot.3,p.M254I|NM_001033087,p.M19I|ENST00000402914,p.M19I|uc002woz.3,p.M19I|ENST00000310348,p.M254I|NM_080676,p.M254I|ENST00000378058,p.M19I|uc002wou.3,p.M254I|ENST00000217246,p.M254I	protein_coding, processed_transcript	uc002wpb.3	nonsynonymous SNV	exon3	c.G57A	p.M19I	VDDNNEEEEDVEMKEDSDENGPEEK	VDDNNEEEEDVEIKEDSDENGPEEK	2.0	1.0	unscreened	-	3713_20:15866443-15866443 G>A_VDDNNEEEEDVEIKEDSDENGPEEK
3:77681721-77681721 T>C	0.0	3713	MELANOMA	-	-	-	2	ROBO2	ENST00000332191,p.F1286S|NM_001290040,p.F1290S|uc003dpz.3,p.F1290S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003dpz.3	nonsynonymous SNV	exon25	c.T3869C	p.F1290S	RSSVGSSSDGSIFASGSFAQALVAA	RSSVGSSSDGSISASGSFAQALVAA	1.0	2.0	unscreened	-	3713_3:77681721-77681721 T>C_RSSVGSSSDGSISASGSFAQALVAA
10:55582396-55582396 G>A	0.0	3713	MELANOMA	-	-	-	-	PCDH15	uc001jju.1,p.S1697F|uc010qhx.1,p.S1628F|NM_001142773,p.S1674F|uc010qhz.1,p.S1699F|NM_001142764,p.S1699F|NM_001142765,p.S1628F|ENST00000361849,p.S1699F|NM_001142768,p.S1677F|NM_001142766,p.S1694F|uc010qhv.1,p.S1694F|NM_001142763,p.S1704F|uc021pqz.1,p.S1674F|ENST00000437009,p.S1628F|uc010qib.1,p.S1674F|ENST00000395430,p.S1694F|ENST00000320301,p.S1697F|ENST00000395433,p.S1674F|uc010qhy.1,p.S1704F|NM_001142767,p.S1657F|ENST00000395432,p.S1657F|uc021pqy.1,p.S1699F|uc010qhw.1,p.S1657F|uc010qia.1,p.S1677F|NM_033056,p.S1697F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqz.1	nonsynonymous SNV	exon31	c.C5021T	p.S1674F	SEPNVISSPAECSLELSPSRPCVLH	SEPNVISSPAECFLELSPSRPCVLH	1.0	4.0	unscreened	-	3713_10:55582396-55582396 G>A_SEPNVISSPAECFLELSPSRPCVLH
19:7056736-7056736 C>T	0.0	3713	MELANOMA	-	-	-	-	MBD3L3	NM_001164425,p.R75K|uc021uns.1,p.R75K|ENST00000333843,p.R75K	protein_coding	uc021uns.1	nonsynonymous SNV	exon2	c.G224A	p.R75K	RIRSHPDNQVRRRKGDEHLEKPQQL	RIRSHPDNQVRRKKGDEHLEKPQQL	1.0	1.0	unscreened	-	3713_19:7056736-7056736 C>T_RIRSHPDNQVRRKKGDEHLEKPQQL
12:11506304-11506304 G>A	0.0	3713	MELANOMA	-	-	-	-	PRB1	uc001qzw.1,p.P244S	retained_intron, protein_coding	uc001qzw.1	nonsynonymous SNV	exon4	c.C730T	p.P244S	GPPPPPGKPQGPPPQGGNKPQGPPP	GPPPPPGKPQGPSPQGGNKPQGPPP	1.0	1.0	unscreened	-	3713_12:11506304-11506304 G>A_GPPPPPGKPQGPSPQGGNKPQGPPP
5:128994346-128994346 A>G	0.0	3713	MELANOMA	-	-	-	-	ADAMTS19	NM_133638,p.R775G|ENST00000274487,p.R775G|uc003kvb.1,p.R775G	protein_coding, processed_transcript, nonsense_mediated_decay	uc003kvb.1	nonsynonymous SNV	exon15	c.A2323G	p.R775G	KVGCDGLLGSLAREDHCGVCNGNGK	KVGCDGLLGSLAGEDHCGVCNGNGK	1.0	3.0	unscreened	-	3713_5:128994346-128994346 A>G_KVGCDGLLGSLAGEDHCGVCNGNGK
6:26234623-26234623 G>-	0.0	3713	MELANOMA	-	-	-	-	HIST1H1D	uc003nhd.3,p.T180fs|NM_005320,p.T180fs|ENST00000244534,p.T180fs	protein_coding	uc003nhd.3	frameshift deletion	exon1	c.539delC	p.T180fs	TKKVAKSAKKVKTPQPKKAAKSPAK	TKKVAKSAKKVKNLSQKKLPRVQLRPKPLSPRRPSLSRGSRRLQRQRRQLRRKS	1.0	8.0	unscreened	-	3713_6:26234623-26234623 G>-_TKKVAKSAKKVKNLSQKKLPRVQLRPKPLSPRRPSLSRGSRRLQRQRRQLRRKS
20:40045969-40045969 C>T	1.0	3713	MELANOMA	-	-	ID=COSM390183;OCCURENCE=1(lung)	-	CHD6	ENST00000373233,p.E2050K|NM_032221,p.E2050K|uc002xka.1,p.E2050K	protein_coding, processed_transcript	uc002xka.1	nonsynonymous SNV	exon32	c.G6148A	p.E2050K	NCHSQDYPGKYSEEESKSSTSGITG	NCHSQDYPGKYSKEESKSSTSGITG	8.0	9.0	-	-	3713_20:40045969-40045969 C>T_NCHSQDYPGKYSKEESKSSTSGITG
2:98834400-98834400 G>A	0.0	3713	MELANOMA	-	-	-	-	VWA3B	ENST00000477737,p.R643K|uc002syo.3,p.R643K|uc002syp.1,p.R35K|uc002sym.3,p.R643K|NM_144992,p.R643K|uc010yvi.1,p.R300K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yvi.1	nonsynonymous SNV	exon8	c.G899A	p.R300K	TISFNYNDEIANRFLKEVAALTGGE	TISFNYNDEIANKFLKEVAALTGGE	1.0	7.0	unscreened	-	3713_2:98834400-98834400 G>A_TISFNYNDEIANKFLKEVAALTGGE
13:31549009-31549009 C>T	0.0	3713	MELANOMA	-	-	ID=COSM946654;OCCURENCE=1(endometrium)	-	TEX26	ENST00000380473,p.R279C|uc001uti.3,p.R279C|NM_152325,p.R279C	protein_coding, processed_transcript, nonsense_mediated_decay	uc001uti.3	nonsynonymous SNV	exon7	c.C835T	p.R279C	SYKDRQIIDRFIRTHCDTNKKKK	SYKDRQIIDRFICTHCDTNKKKK	1.0	3.0	unscreened	-	3713_13:31549009-31549009 C>T_SYKDRQIIDRFICTHCDTNKKKK
2:166898855-166898855 G>A	0.0	3713	MELANOMA	-	-	-	-	SCN1A	ENST00000375405,p.S697F|NM_006920,p.S697F|ENST00000303395,p.S708F|ENST00000423058,p.S708F|NM_001165964,p.S680F|uc021vsb.1,p.S697F|NM_001165963,p.S708F|uc002udo.4,p.S708F|uc010fpk.3,p.S680F|NM_001202435,p.S708F|ENST00000409050,p.S680F	retained_intron, protein_coding	uc021vsb.1	nonsynonymous SNV	exon12	c.C2090T	p.S697F	SFHVSMDFLEDPSQRQRAMSIASIL	SFHVSMDFLEDPFQRQRAMSIASIL	1.0	8.0	unscreened	-	3713_2:166898855-166898855 G>A_SFHVSMDFLEDPFQRQRAMSIASIL
11:71276920-71276920 C>T	0.0	3713	MELANOMA	-	-	-	-	KRTAP5-10	ENST00000398531,p.S96F|uc001oqt.1,p.S96F|NM_001012710,p.S96F	protein_coding	uc001oqt.1	nonsynonymous SNV	exon1	c.C287T	p.S96F	CGSCGGSKGGCGSCGGSKGGCGSCG	CGSCGGSKGGCGFCGGSKGGCGSCG	1.0	1.0	unscreened	-	3713_11:71276920-71276920 C>T_CGSCGGSKGGCGFCGGSKGGCGSCG
12:129569208-129569208 C>T	0.0	3713	MELANOMA	-	-	-	-	TMEM132D	NM_133448,p.E495K|ENST00000389441,p.E33K|ENST00000422113,p.E495K|uc001uia.2,p.E33K|uc009zyl.1,p.E495K	protein_coding	uc009zyl.1	nonsynonymous SNV	exon6	c.G1483A	p.E495K	SDRCDYVFVNGKEMKGKVNVVVNFT	SDRCDYVFVNGKKMKGKVNVVVNFT	1.0	6.0	unscreened	-	3713_12:129569208-129569208 C>T_SDRCDYVFVNGKKMKGKVNVVVNFT
10:50315878-50315878 G>A	0.0	3713	MELANOMA	-	-	-	-	VSTM4	uc001jhf.2,p.A73V|ENST00000298454,p.A73V|NM_144984,p.A73V|NM_001031746,p.A73V|uc001jhh.2,p.A73V|ENST00000332853,p.A73V	protein_coding, processed_transcript	uc001jhh.2	nonsynonymous SNV	exon2	c.C218T	p.A73V	RWFFAHSFDSQEALMVKMTKLRVVQ	RWFFAHSFDSQEVLMVKMTKLRVVQ	3.0	4.0	unscreened	-	3713_10:50315878-50315878 G>A_RWFFAHSFDSQEVLMVKMTKLRVVQ
11:58723297-58723297 G>A	0.0	3713	MELANOMA	-	-	-	-	GLYATL1	ENST00000300079,p.E267K|uc001nni.2,p.E236K|NM_001220496,p.E236K|uc031qbb.1,p.E195K|ENST00000317391,p.E236K|uc001nnh.2,p.E267K|NM_001220494,p.E236K|uc001nnj.2,p.E236K|NM_080661,p.E267K|uc001nnf.3,p.E236K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qbb.1	nonsynonymous SNV	exon4	c.G583A	p.E195K	DPSCEVGMAYSMEKYRRTGNMARVM	DPSCEVGMAYSMKKYRRTGNMARVM	1.0	3.0	unscreened	-	3713_11:58723297-58723297 G>A_DPSCEVGMAYSMKKYRRTGNMARVM
7:82763871-82763871 C>T	1.0	3713	MELANOMA	-	-	-	-	PCLO	NM_014510,p.E999K|NM_033026,p.E999K|uc003uhx.2,p.E999K|uc003uhv.2,p.E999K|ENST00000333891,p.E999K|ENST00000423517,p.E999K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon3	c.G2995A	p.E999K	PPAPAKSIPVKKETKAPAAEKLEPK	PPAPAKSIPVKKKTKAPAAEKLEPK	2.0	7.0	unscreened	-	3713_7:82763871-82763871 C>T_PPAPAKSIPVKKKTKAPAAEKLEPK
17:48916942-48916942 G>A	0.0	3713	MELANOMA	-	-	-	-	WFIKKN2	NM_175575,p.G98E|uc002isv.4,p.G98E|ENST00000311378,p.G98E	protein_coding	uc002isv.4	nonsynonymous SNV	exon2	c.G293A	p.G98E	KSCVAARYMDVKGKKGPVGMPKEAT	KSCVAARYMDVKEKKGPVGMPKEAT	1.0	3.0	unscreened	-	3713_17:48916942-48916942 G>A_KSCVAARYMDVKEKKGPVGMPKEAT
10:74684056-74684056 G>A	0.0	3713	MELANOMA	-	-	-	-	OIT3	uc001jte.1,p.G341R|ENST00000334011,p.G341R|NM_152635,p.G341R	protein_coding	uc001jte.1	nonsynonymous SNV	exon7	c.G1021A	p.G341R	VTGLPKQTPGSSGDFIIRTSKLLIP	VTGLPKQTPGSSRDFIIRTSKLLIP	1.0	2.0	unscreened	-	3713_10:74684056-74684056 G>A_VTGLPKQTPGSSRDFIIRTSKLLIP
7:100243919-100243919 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1446610;OCCURENCE=1(large_intestine)	-	ACTL6B	ENST00000160382,p.E385K|uc003uvy.3,p.E385K|NM_016188,p.E385K	retained_intron, protein_coding	uc003uvy.3	nonsynonymous SNV	exon13	c.G1153A	p.E385K	MRLKLIASNSTMERKFSPWIGGSIL	MRLKLIASNSTMKRKFSPWIGGSIL	1.0	1.0	unscreened	-	3713_7:100243919-100243919 C>T_MRLKLIASNSTMKRKFSPWIGGSIL
8:101624243-101624243 A>G	0.0	3713	MELANOMA	-	-	-	-	SNX31	uc003yjr.3,p.V199A|ENST00000428383,p.V100A|NM_152628,p.V199A|uc011lhb.2,p.V100A|ENST00000311812,p.V199A	protein_coding, processed_transcript	uc011lhb.2	nonsynonymous SNV	exon4	c.T299C	p.V100A	VSLGSSEVENCKVGLRKWYMAPSLD	VSLGSSEVENCKAGLRKWYMAPSLD	1.0	3.0	unscreened	-	3713_8:101624243-101624243 A>G_VSLGSSEVENCKAGLRKWYMAPSLD
18:10789319-10789319 C>T	0.0	3713	MELANOMA	-	-	-	-	PIEZO2	ENST00000582913,p.E643K|ENST00000580640,p.E643K|ENST00000503781,p.E643K|uc002kos.2,p.E643K|NM_022068,p.E643K|ENST00000302079,p.E643K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kos.2	nonsynonymous SNV	exon15	c.G1927A	p.E643K	LQDIQVEGEPKEEEEEEAKEEKQER	LQDIQVEGEPKEKEEEEAKEEKQER	2.0	1.0	unscreened	-	3713_18:10789319-10789319 C>T_LQDIQVEGEPKEKEEEEAKEEKQER
1:2491302-2491302 G>A	1.0	3713	MELANOMA	-	-	-	1	TNFRSF14	uc001ajt.1,p.R285K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ajt.1	nonsynonymous SNV	exon3	c.G854A	p.R285K	WACARAGTAPGQRTPCVAAAQATSA	WACARAGTAPGQKTPCVAAAQATSA	10.0	5.0	unscreened	-	3713_1:2491302-2491302 G>A_WACARAGTAPGQKTPCVAAAQATSA
17:79096523-79096523 C>T	1.0	3713	MELANOMA	-	-	-	-	AATK	ENST00000417379,p.E302K|NM_001080395,p.E405K|ENST00000326724,p.E405K|ENST00000374792,p.E405K|NM_004920,p.E302K|uc010dia.3,p.E405K|uc021ueu.1,p.E302K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ueu.1	nonsynonymous SNV	exon10	c.G904A	p.E302K	LLLSYLCAKGATEAEEEFERRWRSL	LLLSYLCAKGATKAEEEFERRWRSL	3.0	4.0	unscreened	-	3713_17:79096523-79096523 C>T_LLLSYLCAKGATKAEEEFERRWRSL
6:133836477-133836477 A>G	1.0	3713	MELANOMA	-	-	-	-	EYA4	uc011ecs.2,p.K513R|uc003qec.4,p.K507R|uc011ecq.2,p.K453R|NM_172103,p.K484R|ENST00000452339,p.K453R|ENST00000431403,p.K507R|uc003qee.4,p.K484R|ENST00000355286,p.K484R|uc011ecr.2,p.K459R|NM_004100,p.K507R|ENST00000355167,p.K507R|NM_001301012,p.K453R|NM_001301013,p.K513R|NM_172105,p.K507R|uc003qed.4,p.K507R|ENST00000531901,p.K513R|ENST00000525849,p.K484R|ENST00000430974,p.K459R|ENST00000367895,p.K507R	retained_intron, protein_coding, processed_transcript	uc011ecs.2	nonsynonymous SNV	exon17	c.A1538G	p.K513R	YKNNVGGLLGPAKRDAWLQLRAEIE	YKNNVGGLLGPARRDAWLQLRAEIE	1.0	8.0	unscreened	-	3713_6:133836477-133836477 A>G_YKNNVGGLLGPARRDAWLQLRAEIE
1:152280643-152280643 C>T	0.0	3713	MELANOMA	-	-	-	-	FLG	uc001ezu.1,p.G2240E|NM_002016,p.G2240E|ENST00000368799,p.G2240E	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.G6719A	p.G2240E	GQSSGPRTSRPRGSSVSQDSDSEGH	GQSSGPRTSRPRESSVSQDSDSEGH	1.0	2.0	unscreened	-	3713_1:152280643-152280643 C>T_GQSSGPRTSRPRESSVSQDSDSEGH
19:9047777-9047777 G>A	0.0	3713	MELANOMA	-	-	-	2	MUC16	NM_024690,p.S11285F|ENST00000397910,p.S11285F|uc002mkp.3,p.S11285F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon5	c.C33854T	p.S11285F	SSSTLPRTTSRFSHSELDTMPSTVT	SSSTLPRTTSRFFHSELDTMPSTVT	1.0	8.0	unscreened	-	3713_19:9047777-9047777 G>A_SSSTLPRTTSRFFHSELDTMPSTVT
1:74957824-74957824 C>T	0.0	3713	MELANOMA	-	-	-	-	FPGT-TNNI3K,TNNI3K	uc001dgf.2,p.P742L|ENST00000326637,p.P742L|ENST00000370891,p.P843L|NM_015978,p.P742L|ENST00000557284,p.P843L|uc001dge.2,p.P843L|NM_001112808,p.P856L	 processed_transcript,retained_intron,protein_coding, protein_coding	uc001dgf.2	nonsynonymous SNV	exon23	c.C2225T	p.P742L	SPASSNSSGSLSPSSSSDCLVNRGG	SPASSNSSGSLSLSSSSDCLVNRGG	1.0	8.0	unscreened	-	3713_1:74957824-74957824 C>T_SPASSNSSGSLSLSSSSDCLVNRGG
4:166935632-166935632 G>A	0.0	3713	MELANOMA	-	-	-	-	TLL1	uc011cjo.2,p.G145D|ENST00000513213,p.G321D|NM_001204760,p.G321D|uc003irh.2,p.G321D|uc011cjn.2,p.G321D|ENST00000061240,p.G321D|NM_012464,p.G321D|ENST00000507499,p.G321D|uc021xud.1,p.G321D	protein_coding, nonsense_mediated_decay	uc021xud.1	nonsynonymous SNV	exon8	c.G962A	p.G321D	FLDTILPSRDDNGIRPAIGQRTRLS	FLDTILPSRDDNDIRPAIGQRTRLS	1.0	9.0	unscreened	-	3713_4:166935632-166935632 G>A_FLDTILPSRDDNDIRPAIGQRTRLS
3:135741999-135741999 C>T	0.0	3713	MELANOMA	-	-	-	-	PPP2R3A	ENST00000334546,p.P30S|NM_181897,p.P30S|uc003eqw.2,p.P30S	protein_coding, processed_transcript, nonsense_mediated_decay	uc003eqw.2	nonsynonymous SNV	exon1	c.C88T	p.P30S	LAFLARGCDFVLPSRFKKRLKSFQQ	LAFLARGCDFVLSSRFKKRLKSFQQ	5.0	4.0	unscreened	-	3713_3:135741999-135741999 C>T_LAFLARGCDFVLSSRFKKRLKSFQQ
9:140409963-140409963 C>T	1.0	3713	MELANOMA	-	-	-	-	PNPLA7	uc011mfa.1,p.G72S	protein_coding, processed_transcript, nonsense_mediated_decay	uc011mfa.1	nonsynonymous SNV	exon4	c.G214A	p.G72S	RLQESCDSADHGGGRPAAAGPLLKR	RLQESCDSADHGSGRPAAAGPLLKR	3.0	9.0	unscreened	-	3713_9:140409963-140409963 C>T_RLQESCDSADHGSGRPAAAGPLLKR
9:140409963-140409963 C>T	1.0	3713	MELANOMA	-	-	-	-	PNPLA7	ENST00000277531,p.G340S|uc004cnf.2,p.G340S|NM_001098537,p.G365S|ENST00000434090,p.G331S|NM_152286,p.G340S|uc010ncj.1,p.G365S|ENST00000406427,p.G365S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ncj.1	nonsynonymous SNV	exon12	c.G1093A	p.G365S	PRLQESCDSDHGGGRPAAAGPLLKR	PRLQESCDSDHGSGRPAAAGPLLKR	3.0	9.0	unscreened	-	3713_9:140409963-140409963 C>T_PRLQESCDSDHGSGRPAAAGPLLKR
3:13612537-13612537 C>T	0.0	3713	MELANOMA	-	-	-	2	FBLN2	NM_001165035,p.P228S|ENST00000535798,p.P254S|ENST00000404922,p.P228S|ENST00000492059,p.P228S|uc011ava.2,p.P228S|NM_001004019,p.P228S|uc011avc.2,p.P228S|uc011auz.2,p.P254S|ENST00000295760,p.P228S|uc011avb.2,p.P228S|NM_001998,p.P228S	retained_intron, protein_coding	uc011avc.2	nonsynonymous SNV	exon2	c.C682T	p.P228S	VQAGAVQAGAGGPPAALGGGSQPLS	VQAGAVQAGAGGSPAALGGGSQPLS	3.0	2.0	unscreened	-	3713_3:13612537-13612537 C>T_VQAGAVQAGAGGSPAALGGGSQPLS
6:82461727-82461727 ->CCGCCGAAGTCGCCG	0.0	3713	MELANOMA	-	-	-	-	FAM46A	ENST00000369754,p.G63delinsGGDFGG|ENST00000320172,p.G44delinsGGDFGG|uc003pjf.3,p.G63delinsGGDFGG|ENST00000369756,p.G125delinsGGDFGG|NM_017633,p.G44delinsGGDFGG|uc003pjh.1,p.G44delinsGGDFGG|uc003pjg.3,p.G44delinsGGDFGG	protein_coding	uc003pjh.1	nonframeshift insertion	exon2	c.131_132insCGGCGACTTCGGCGG	p.G44delinsGGDFGG	FGGGDFGGGDFGGGGSFGGHCLDYC	FGGGDFGGGDFGGGDFGGGGSFGGH	5.0	2.0	unscreened	-	3713_6:82461727-82461727 ->CCGCCGAAGTCGCCG_FGGGDFGGGDFGGGDFGGGGSFGGH
19:34263601-34263601 G>A	0.0	3713	MELANOMA	-	-	-	-	CHST8	ENST00000438847,p.G303D|ENST00000262622,p.G303D|NM_001127895,p.G303D|NM_001127896,p.G303D|uc002nus.4,p.G303D|uc002nut.4,p.G303D|NM_022467,p.G303D|uc002nuu.3,p.G303D|ENST00000434302,p.G303D	protein_coding	uc002nuu.3	nonsynonymous SNV	exon4	c.G908A	p.G303D	YRANASREALRTGSGVRFPEFVQYL	YRANASREALRTDSGVRFPEFVQYL	1.0	5.0	unscreened	-	3713_19:34263601-34263601 G>A_YRANASREALRTDSGVRFPEFVQYL
7:107710279-107710279 C>T	0.0	3713	MELANOMA	-	-	-	-	LAMB4	ENST00000388781,p.D726N|uc003vey.2,p.D726N|ENST00000205386,p.D726N|ENST00000388780,p.D726N|NM_007356,p.D726N|uc010ljo.1,p.D726N	retained_intron, protein_coding, processed_transcript	uc010ljo.1	nonsynonymous SNV	exon18	c.G2176A	p.D726N	QINSLENFCSKQDLDEYQLHNCVEI	QINSLENFCSKQNLDEYQLHNCVEI	1.0	8.0	unscreened	-	3713_7:107710279-107710279 C>T_QINSLENFCSKQNLDEYQLHNCVEI
22:17072291-17072291 C>T	0.0	3713	MELANOMA	-	-	-	-	CCT8L2	ENST00000359963,p.G384R|uc002zlp.1,p.G384R|NM_014406,p.G384R	protein_coding	uc002zlp.1	nonsynonymous SNV	exon1	c.G1150A	p.G384R	ALTVVLRGATTQGLRSAEQAVYHGI	ALTVVLRGATTQRLRSAEQAVYHGI	1.0	2.0	unscreened	-	3713_22:17072291-17072291 C>T_ALTVVLRGATTQRLRSAEQAVYHGI
6:54805310-54805310 C>T	0.0	3713	MELANOMA	-	-	-	-	FAM83B	uc003pck.4,p.S514L|NM_001010872,p.S514L|ENST00000306858,p.S514L	protein_coding	uc003pck.4	nonsynonymous SNV	exon5	c.C1541T	p.S514L	NDHSEATPDSNGSALGDRFEGYDNP	NDHSEATPDSNGLALGDRFEGYDNP	1.0	2.0	unscreened	-	3713_6:54805310-54805310 C>T_NDHSEATPDSNGLALGDRFEGYDNP
4:183664419-183664419 C>T	0.0	3713	MELANOMA	-	-	-	-	TENM3	ENST00000406950,p.S1159F|uc003ivd.1,p.S1159F|NM_001080477,p.S1159F|ENST00000511685,p.S1159F|uc003ive.1,p.S565F	retained_intron, protein_coding, processed_transcript	uc003ive.1	nonsynonymous SNV	exon11	c.C1694T	p.S565F	SSIMGNGRRRSISCPSCNGQADGNK	SSIMGNGRRRSIFCPSCNGQADGNK	2.0	9.0	unscreened	-	3713_4:183664419-183664419 C>T_SSIMGNGRRRSIFCPSCNGQADGNK
3:111795980-111795980 G>A	0.0	3713	MELANOMA	-	-	-	-	TMPRSS7	NM_001042575,p.R612K|ENST00000419127,p.R612K|uc010hqb.2,p.R612K|uc011bhr.1,p.R467K|ENST00000452346,p.R738K	protein_coding, nonsense_mediated_decay	uc011bhr.1	nonsynonymous SNV	exon15	c.G1400A	p.R467K	SGEKCWVTGWGRRHEADNKGSLVLQ	SGEKCWVTGWGRKHEADNKGSLVLQ	1.0	9.0	unscreened	-	3713_3:111795980-111795980 G>A_SGEKCWVTGWGRKHEADNKGSLVLQ
8:108509564-108509564 C>T	0.0	3713	MELANOMA	-	-	-	-	ANGPT1	NM_001199859,p.E75K|ENST00000517746,p.E75K|ENST00000297450,p.E75K|NM_001146,p.E75K|uc003ymn.3,p.E75K|uc003ymo.3,p.E75K	retained_intron, protein_coding, processed_transcript	uc003ymo.3	nonsynonymous SNV	exon1	c.G223A	p.E75K	NTNALQRDAPHVEPDFSSQKLQHLE	NTNALQRDAPHVKPDFSSQKLQHLE	1.0	9.0	unscreened	-	3713_8:108509564-108509564 C>T_NTNALQRDAPHVKPDFSSQKLQHLE
3:9757160-9757160 C>T	0.0	3713	MELANOMA	-	-	-	-	CPNE9	uc021wst.1,p.L258F|ENST00000383831,p.L258F|ENST00000383832,p.L258F	retained_intron, protein_coding	uc021wst.1	nonsynonymous SNV	exon13	c.C772T	p.L258F	SKAQNQFTVYEVLNPRKKCKKKKYV	SKAQNQFTVYEVFNPRKKCKKKKYV	1.0	7.0	unscreened	-	3713_3:9757160-9757160 C>T_SKAQNQFTVYEVFNPRKKCKKKKYV
15:83330601-83330601 C>T	0.0	3713	MELANOMA	-	-	-	-	AP3B2	ENST00000535348,p.E947K|NM_004644,p.E979K|NM_001278511,p.E947K|ENST00000261722,p.E979K|uc010uoh.2,p.E979K|uc010uog.2,p.E615K|uc010uoi.2,p.E998K|uc010uoj.2,p.E947K|NM_001278512,p.E998K|uc010bmp.3,p.E42K|ENST00000535359,p.E998K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uoj.2	nonsynonymous SNV	exon23	c.G2839A	p.E947K	PVGELMAPVFMSENEFKKEQGKLMG	PVGELMAPVFMSKNEFKKEQGKLMG	1.0	9.0	unscreened	-	3713_15:83330601-83330601 C>T_PVGELMAPVFMSKNEFKKEQGKLMG
1:12835098-12835098 G>A	0.0	3713	MELANOMA	-	-	-	-	PRAMEF12	NM_001080830,p.E30K|ENST00000357726,p.E30K|uc001aui.3,p.E30K	protein_coding	uc001aui.3	nonsynonymous SNV	exon1	c.G88A	p.E30K	LRDRALAIPTLEELPRELFPPLFME	LRDRALAIPTLEKLPRELFPPLFME	1.0	4.0	unscreened	-	3713_1:12835098-12835098 G>A_LRDRALAIPTLEKLPRELFPPLFME
17:11968-11968 C>T	0.0	3713	MELANOMA	-	-	-	-	DOC2B	ENST00000343572,p.R181K|uc010vpx.1,p.R181K|NM_003585,p.R181K	protein_coding, processed_transcript	uc010vpx.1	nonsynonymous SNV	exon4	c.G542A	p.R181K	HLLPGASKANKLRTKTLRNTLNPTW	HLLPGASKANKLKTKTLRNTLNPTW	1.0	9.0	unscreened	-	3713_17:11968-11968 C>T_HLLPGASKANKLKTKTLRNTLNPTW
2:71778803-71778803 G>A	0.0	3713	MELANOMA	-	-	-	-	DYSF	ENST00000410041,p.E587K|NM_001130980,p.E586K|uc010fek.3,p.E587K|uc010fen.3,p.E587K|uc002sif.3,p.E570K|uc010fee.3,p.E569K|NM_001130976,p.E555K|ENST00000409651,p.E601K|uc010feh.3,p.E555K|NM_003494,p.E569K|NM_001130977,p.E555K|ENST00000258104,p.E569K|ENST00000409582,p.E586K|NM_001130986,p.E556K|uc002sig.4,p.E555K|uc010fef.3,p.E586K|NM_001130984,p.E556K|uc010fem.3,p.E570K|NM_001130981,p.E586K|ENST00000409762,p.E586K|uc010fel.3,p.E556K|uc010feo.3,p.E601K|uc010fej.3,p.E556K|NM_001130987,p.E587K|ENST00000429174,p.E569K|ENST00000410020,p.E587K|uc010feg.3,p.E600K|uc002sie.3,p.E569K|ENST00000413539,p.E600K|NM_001130978,p.E569K|ENST00000409744,p.E556K|ENST00000394120,p.E570K|NM_001130982,p.E601K|NM_001130455,p.E570K|NM_001130979,p.E600K|NM_001130985,p.E587K|ENST00000409366,p.E570K|NM_001130983,p.E570K|uc010fei.3,p.E586K	protein_coding, processed_transcript	uc010feo.3	nonsynonymous SNV	exon20	c.G1801A	p.E601K	LLSLETKLVEHSEQKVEDLPADDIL	LLSLETKLVEHSKQKVEDLPADDIL	3.0	2.0	unscreened	-	3713_2:71778803-71778803 G>A_LLSLETKLVEHSKQKVEDLPADDIL
18:9859260-9859260 G>A	0.0	3713	MELANOMA	-	-	-	-	RAB31	NM_006868,p.G176R|ENST00000578921,p.G176R|uc002kog.2,p.G176R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kog.2	nonsynonymous SNV	exon7	c.G526A	p.G176R	SRQIPPLDPHENGNNGTIKVEKPTM	SRQIPPLDPHENRNNGTIKVEKPTM	7.0	5.0	-	-	3713_18:9859260-9859260 G>A_SRQIPPLDPHENRNNGTIKVEKPTM
7:82508677-82508677 C>T	1.0	3713	MELANOMA	-	-	-	-	PCLO	uc003uhv.2,p.E4544K|NM_033026,p.E4544K|ENST00000333891,p.E4544K|uc003uhx.2,p.E4544K|ENST00000423517,p.E4544K|NM_014510,p.E4544K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon10	c.G13630A	p.E4544K	AYIAKILPGGSAEQTGKLMEGMQVL	AYIAKILPGGSAKQTGKLMEGMQVL	2.0	8.0	unscreened	-	3713_7:82508677-82508677 C>T_AYIAKILPGGSAKQTGKLMEGMQVL
1:224500772-224500772 G>A	0.0	3713	MELANOMA	-	-	-	-	NVL	ENST00000436927,p.P14S|uc010pvg.2,p.P124S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010pvg.2	nonsynonymous SNV	exon5	c.C370T	p.P124S	AYRSLDVPGPSDPPTAASQVAGITG	AYRSLDVPGPSDSPTAASQVAGITG	5.0	2.0	unscreened	-	3713_1:224500772-224500772 G>A_AYRSLDVPGPSDSPTAASQVAGITG
9:21141350-21141350 C>T	0.0	3713	MELANOMA	-	-	-	-	IFNW1	ENST00000380229,p.A74T|NM_002177,p.A74T|uc003zol.1,p.A74T	protein_coding	uc003zol.1	nonsynonymous SNV	exon1	c.G220A	p.A74T	PQEMVKGSQLQKAHVMSVLHEMLQQ	PQEMVKGSQLQKTHVMSVLHEMLQQ	1.0	7.0	unscreened	-	3713_9:21141350-21141350 C>T_PQEMVKGSQLQKTHVMSVLHEMLQQ
8:133740055-133740055 G>A	0.0	3713	MELANOMA	-	-	-	-	TMEM71	NM_144649,p.S203L|ENST00000523829,p.S222L|ENST00000356838,p.S203L|uc003ytm.2,p.S43L|uc003ytn.3,p.S203L	retained_intron, protein_coding, processed_transcript	uc003ytn.3	nonsynonymous SNV	exon6	c.C608T	p.S203L	QLTASERFQENSSDHSETRLLQEVF	QLTASERFQENSLDHSETRLLQEVF	4.0	2.0	unscreened	-	3713_8:133740055-133740055 G>A_QLTASERFQENSLDHSETRLLQEVF
2:173850192-173850192 T>C	1.0	3713	MELANOMA	-	-	-	-	RAPGEF4	uc002uhu.2,p.F374S	retained_intron, protein_coding, processed_transcript	uc002uhu.2	nonsynonymous SNV	exon12	c.T1121C	p.F374S	TTVKRELAGVLIFESHAKGGTVCK	TTVKRELAGVLISESHAKGGTVCK	1.0	6.0	unscreened	-	3713_2:173850192-173850192 T>C_TTVKRELAGVLISESHAKGGTVCK
4:77274311-77274311 C>T	0.0	3713	MELANOMA	-	-	-	-	CCDC158	ENST00000388914,p.E804K|uc003hkb.4,p.E804K|NM_001042784,p.E804K	retained_intron, protein_coding, processed_transcript	uc003hkb.4	nonsynonymous SNV	exon15	c.G2410A	p.E804K	LEVLRSQERRLKEKVTNMEVALDKA	LEVLRSQERRLKKKVTNMEVALDKA	1.0	9.0	unscreened	-	3713_4:77274311-77274311 C>T_LEVLRSQERRLKKKVTNMEVALDKA
21:31015174-31015174 C>T	0.0	3713	MELANOMA	-	-	-	-	GRIK1	ENST00000309434,p.G357E|ENST00000535441,p.G357E	protein_coding, processed_transcript	ENST00000535441	nonsynonymous SNV	exon7	c.G1070A	p.G357E	SLQCHRHKPWRLGPRFMNLIKEATA	SLQCHRHKPWRLEPRFMNLIKEATA	1.0	3.0	unscreened	-	3713_21:31015174-31015174 C>T_SLQCHRHKPWRLEPRFMNLIKEATA
1:220835494-220835494 G>A	0.0	3713	MELANOMA	-	-	-	-	MARK1	ENST00000402574,p.E642K|uc009xdw.3,p.E793K|NM_001286126,p.E777K|uc001hmn.4,p.E792K|uc010pun.2,p.E777K|uc001hmm.4,p.E755K|NM_001286124,p.E793K|ENST00000366918,p.E755K|NM_001286128,p.E755K|ENST00000366917,p.E792K|NM_018650,p.E792K	protein_coding, processed_transcript	uc010pun.2	nonsynonymous SNV	exon17	c.G2329A	p.E777K	IAFKNIASKIANELKL	IAFKNIASKIANKLKL	1.0	4.0	unscreened	-	3713_1:220835494-220835494 G>A_IAFKNIASKIANKLKL
20:43739371-43739371 G>A	0.0	3713	MELANOMA	-	-	-	-	WFDC5	ENST00000372789,p.S44L|uc002xne.2,p.S44L|ENST00000307971,p.S44L|NM_145652,p.S44L	protein_coding	uc002xne.2	nonsynonymous SNV	exon2	c.C131T	p.S44L	GGCPPDDGPCLLSVPDQCVEDSQCP	GGCPPDDGPCLLLVPDQCVEDSQCP	1.0	6.0	unscreened	-	3713_20:43739371-43739371 G>A_GGCPPDDGPCLLLVPDQCVEDSQCP
5:140767825-140767825 A>T	0.0	3713	MELANOMA	-	-	-	-	PCDHGB4	NM_003736,p.D125V|uc003lkc.2,p.D125V|NM_032098,p.D125V|ENST00000519479,p.D125V	protein_coding	uc003lkc.2	nonsynonymous SNV	exon1	c.A374T	p.D125V	PLNFYHVNVEIEDINDHTPKFTQNS	PLNFYHVNVEIEVINDHTPKFTQNS	3.0	7.0	unscreened	-	3713_5:140767825-140767825 A>T_PLNFYHVNVEIEVINDHTPKFTQNS
5:150275179-150275179 C>T	1.0	3713	MELANOMA	-	-	ID=COSM258445;OCCURENCE=1(large_intestine),2(endometrium)	-	ZNF300	uc021yfy.1,p.R541Q|NM_001172832,p.R505Q|ENST00000274599,p.R541Q|uc021yfx.1,p.R557Q|NM_001172831,p.R557Q|ENST00000394226,p.R541Q|NM_052860,p.R541Q|ENST00000446148,p.R557Q|ENST00000418587,p.R505Q|uc021yfz.1,p.R505Q	protein_coding	uc021yfz.1	nonsynonymous SNV	exon5	c.G1514A	p.R505Q	AFSQKSHLPGHQRIHTGEKPYICAE	AFSQKSHLPGHQQIHTGEKPYICAE	4.0	7.0	unscreened	-	3713_5:150275179-150275179 C>T_AFSQKSHLPGHQQIHTGEKPYICAE
14:20296293-20296293 C>T	0.0	3713	MELANOMA	-	-	-	-	OR4N2	NM_001004723,p.S229F|ENST00000315947,p.S229F|uc010tkv.2,p.S229F	protein_coding	uc010tkv.2	nonsynonymous SNV	exon1	c.C686T	p.S229F	SYAVILCRIRGSSSEAKNKAMSTCI	SYAVILCRIRGSFSEAKNKAMSTCI	1.0	2.0	unscreened	-	3713_14:20296293-20296293 C>T_SYAVILCRIRGSFSEAKNKAMSTCI
7:94054477-94054477 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1292578;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	COL1A2	uc003ung.1,p.P908S|ENST00000297268,p.P908S|NM_000089,p.P908S	retained_intron, protein_coding	uc003ung.1	nonsynonymous SNV	exon42	c.C2722T	p.P908S	PLGIAGPPGARGPPGAVGSPGVNGA	PLGIAGPPGARGSPGAVGSPGVNGA	10.0	2.0	unscreened	-	3713_7:94054477-94054477 C>T_PLGIAGPPGARGSPGAVGSPGVNGA
2:44078875-44078875 C>T	0.0	3713	MELANOMA	-	-	-	-	ABCG8	NM_022437,p.P159S|ENST00000272286,p.P159S|uc010yoa.2,p.P159S|uc002rtq.3,p.P159S	protein_coding	uc010yoa.2	nonsynonymous SNV	exon4	c.C475T	p.P159S	CVAHVRQHNQLLPNLTVRETLAFIA	CVAHVRQHNQLLSNLTVRETLAFIA	1.0	4.0	unscreened	-	3713_2:44078875-44078875 C>T_CVAHVRQHNQLLSNLTVRETLAFIA
2:179464554-179464554 C>T	0.0	3713	MELANOMA	-	-	-	-	TTN	ENST00000359218,p.E9752K|uc021vsy.2,p.E16124K|ENST00000589042,p.E18692K|ENST00000460472,p.E9627K|NM_133437,p.E9819K|uc031rqd.1,p.E17051K|uc031rqc.1,p.E18692K|uc021vtb.2,p.E9627K|NM_133432,p.E9752K|NM_133378,p.E16124K|uc021vta.2,p.E9752K|NM_001256850,p.E17051K|ENST00000591111,p.E17051K|ENST00000342992,p.E16124K|uc021vsz.2,p.E9819K|ENST00000342175,p.E9819K|NM_003319,p.E9627K|NM_001267550,p.E18692K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon239	c.G51151A	p.E17051K	KDQTCPPSIDLKEFMEVEEGTNVNI	KDQTCPPSIDLKKFMEVEEGTNVNI	1.0	8.0	unscreened	-	3713_2:179464554-179464554 C>T_KDQTCPPSIDLKKFMEVEEGTNVNI
12:40951280-40951280 G>A	0.0	3713	MELANOMA	-	-	-	-	MUC19	uc009zjx.1,p.G250S	retained_intron, protein_coding, processed_transcript	uc009zjx.1	nonsynonymous SNV	exon15	c.G748A	p.G250S	QPTGSKTGYTVTGSGTTALPGGFRT	QPTGSKTGYTVTSSGTTALPGGFRT	1.0	4.0	unscreened	-	3713_12:40951280-40951280 G>A_QPTGSKTGYTVTSSGTTALPGGFRT
9:78848389-78848389 G>A	0.0	3713	MELANOMA	-	-	-	-	PCSK5	uc004akc.2,p.G915S|ENST00000424854,p.G588S|ENST00000545128,p.G915S|NM_001190482,p.G915S	protein_coding	uc004akc.2	nonsynonymous SNV	exon22	c.G2743A	p.G915S	CTTCPMTRIFDDGRCVSNCPSWKFE	CTTCPMTRIFDDSRCVSNCPSWKFE	1.0	4.0	unscreened	-	3713_9:78848389-78848389 G>A_CTTCPMTRIFDDSRCVSNCPSWKFE
6:41708723-41708723 G>A	0.0	3713	MELANOMA	-	-	-	-	PGC	ENST00000425343,p.S313L|uc021yzm.1,p.S313L|NM_001166424,p.S313L	protein_coding	uc021yzm.1	nonsynonymous SNV	exon7	c.C938T	p.S313L	PTTRGPPRSQHHSGA	PTTRGPPRSQHHLGA	1.0	1.0	unscreened	-	3713_6:41708723-41708723 G>A_PTTRGPPRSQHHLGA
12:122260561-122260561 A>G	1.0	3713	MELANOMA	-	-	-	-	SETD1B	ENST00000267197,p.H1316R|NM_015048,p.H1316R|uc021rfg.1,p.H1359R|ENST00000542440,p.H1316R|ENST00000604567,p.H1359R|uc001ubi.3,p.H1316R	protein_coding	uc021rfg.1	nonsynonymous SNV	exon11	c.A4076G	p.H1359R	HPSVPPEPLAEDHPPHTPGLCGSLA	HPSVPPEPLAEDRPPHTPGLCGSLA	5.0	8.0	unscreened	-	3713_12:122260561-122260561 A>G_HPSVPPEPLAEDRPPHTPGLCGSLA
2:152423777-152423777 C>T	0.0	3713	MELANOMA	-	-	-	-	NEB	uc021vrd.1,p.D4320N|NM_001271208,p.D6021N|ENST00000603639,p.D6021N|ENST00000172853,p.D4320N|ENST00000397345,p.D6021N|uc002txu.3,p.D6021N|NM_001164507,p.D6021N|ENST00000604864,p.D6021N|ENST00000427231,p.D6021N|ENST00000409198,p.D4320N|uc031rpp.1,p.D6021N|uc002txr.3,p.D786N|uc021vrc.1,p.D6021N|ENST00000413693,p.D751N|uc021vrb.1,p.D4320N|NM_001164508,p.D6021N	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon114	c.G18061A	p.D6021N	VLAAKQGQTLVSDIDYRNYLHQWMC	VLAAKQGQTLVSNIDYRNYLHQWMC	2.0	5.0	unscreened	-	3713_2:152423777-152423777 C>T_VLAAKQGQTLVSNIDYRNYLHQWMC
12:11506304-11506304 G>A	0.0	3713	MELANOMA	-	-	-	-	PRB1	ENST00000500254,p.P112S|ENST00000546254,p.P112S|uc001qzu.1,p.P112S|NM_199353,p.P112S	retained_intron, protein_coding	uc001qzu.1	nonsynonymous SNV	exon4	c.C334T	p.P112S	PPPQGGKPQGPPPQGGNKPQGPPPP	PPPQGGKPQGPPSQGGNKPQGPPPP	1.0	1.0	unscreened	-	3713_12:11506304-11506304 G>A_PPPQGGKPQGPPSQGGNKPQGPPPP
2:170028582-170028582 G>A	0.0	3713	MELANOMA	-	-	ID=COSM219422;OCCURENCE=1(breast),1(large_intestine)	-	LRP2	uc002ues.3,p.R3736C|NM_004525,p.R3736C|ENST00000263816,p.R3736C	retained_intron, protein_coding, processed_transcript	uc002ues.3	nonsynonymous SNV	exon58	c.C11206T	p.R3736C	DFRCKNHHCIPLRWQCDGQNDCGDN	DFRCKNHHCIPLCWQCDGQNDCGDN	2.0	6.0	unscreened	-	3713_2:170028582-170028582 G>A_DFRCKNHHCIPLCWQCDGQNDCGDN
9:32430551-32430551 G>A	1.0	3713	MELANOMA	-	-	ID=COSM1108128,COSM1108130;OCCURENCE=1(endometrium)	-	ACO1	uc010mjh.1,p.D403N|uc003zqw.4,p.D569N|NM_001278352,p.D569N|NM_002197,p.D569N|ENST00000541043,p.D470N|ENST00000309951,p.D569N|ENST00000379923,p.D569N|uc003zqx.4,p.D569N	protein_coding	uc010mjh.1	nonsynonymous SNV	exon13	c.G1207A	p.D403N	VIAYAIAGTIRIDFEKEPLGVNAKG	VIAYAIAGTIRINFEKEPLGVNAKG	5.0	6.0	-	-	3713_9:32430551-32430551 G>A_VIAYAIAGTIRINFEKEPLGVNAKG
19:39360730-39360730 C>T	0.0	3713	MELANOMA	-	-	-	-	RINL	ENST00000591812,p.G399R|NM_198445,p.G285R|ENST00000340740,p.G285R|NM_001195833,p.G399R|ENST00000598904,p.G285R|uc010xuo.2,p.G399R|uc002ojq.3,p.G285R	retained_intron, protein_coding, processed_transcript	uc010xuo.2	nonsynonymous SNV	exon9	c.G1195A	p.G399R	AGPPGAQGPGPEGQSPAPALRSRIH	AGPPGAQGPGPERQSPAPALRSRIH	6.0	3.0	unscreened	-	3713_19:39360730-39360730 C>T_AGPPGAQGPGPERQSPAPALRSRIH
5:63509732-63509732 G>A	0.0	3713	MELANOMA	-	-	-	-	RNF180	NM_001113561,p.M193I|uc003jti.3,p.M193I|ENST00000296615,p.M193I|ENST00000389100,p.M193I|NM_178532,p.M193I|uc003jth.4,p.M193I	protein_coding	uc003jti.3	nonsynonymous SNV	exon4	c.G579A	p.M193I	ALCLEVRPTYFEMKNEKLLSKASEP	ALCLEVRPTYFEIKNEKLLSKASEP	1.0	7.0	unscreened	-	3713_5:63509732-63509732 G>A_ALCLEVRPTYFEIKNEKLLSKASEP
6:93982066-93982066 C>T	0.0	3713	MELANOMA	-	-	-	2	EPHA7	ENST00000369303,p.E467K|uc011eac.2,p.E467K|uc003pof.3,p.E467K|NM_001288629,p.E467K|NM_004440,p.E467K|uc003poe.3,p.E467K	protein_coding	uc011eac.2	nonsynonymous SNV	exon6	c.G1399A	p.E467K	LQRSVELSWQEPEHPNGVITEYEIK	LQRSVELSWQEPKHPNGVITEYEIK	1.0	6.0	unscreened	-	3713_6:93982066-93982066 C>T_LQRSVELSWQEPKHPNGVITEYEIK
4:7735134-7735134 G>A	0.0	3713	MELANOMA	-	-	-	-	SORCS2	uc011bwi.2,p.R893Q|uc003gkb.4,p.R1065Q|NM_020777,p.R1065Q|ENST00000329016,p.R893Q|ENST00000507866,p.R1065Q	protein_coding, processed_transcript	uc011bwi.2	nonsynonymous SNV	exon24	c.G2678A	p.R893Q	LLRGGVRVLVALRDTGTGAEQLGGG	LLRGGVRVLVALQDTGTGAEQLGGG	1.0	8.0	unscreened	-	3713_4:7735134-7735134 G>A_LLRGGVRVLVALQDTGTGAEQLGGG
16:72821334-72821334 C>T	1.0	3713	MELANOMA	-	-	-	1	ZFHX3	ENST00000268489,p.R3614K|uc002fck.3,p.R3614K|ENST00000397992,p.R2700K|uc002fcl.3,p.R2700K|NM_001164766,p.R2700K|NM_006885,p.R3614K	retained_intron, protein_coding	uc002fcl.3	nonsynonymous SNV	exon9	c.G8099A	p.R2700K	AAAPSSASPHASRKSWPQVVSRASA	AAAPSSASPHASKKSWPQVVSRASA	5.0	2.0	-	-	3713_16:72821334-72821334 C>T_AAAPSSASPHASKKSWPQVVSRASA
20:55748215-55748215 C>G	0.0	3713	MELANOMA	-	-	-	-	BMP7	ENST00000450594,p.G396A|uc002xyc.3,p.G396A	retained_intron, protein_coding, processed_transcript	uc002xyc.3	nonsynonymous SNV	exon6	c.G1187C	p.G396A	GVTPSWGVVTWAGQAAGPPDPAASK	GVTPSWGVVTWAAQAAGPPDPAASK	3.0	9.0	unscreened	-	3713_20:55748215-55748215 C>G_GVTPSWGVVTWAAQAAGPPDPAASK
5:112770377-112770377 C>T	0.0	3713	MELANOMA	-	-	-	-	TSSK1B	ENST00000390666,p.E54K|uc003kqm.2,p.E54K|NM_032028,p.E54K	protein_coding	uc003kqm.2	nonsynonymous SNV	exon1	c.G160A	p.E54K	IIDRKKAPADFLEKFLPREIEILAM	IIDRKKAPADFLKKFLPREIEILAM	1.0	6.0	unscreened	-	3713_5:112770377-112770377 C>T_IIDRKKAPADFLKKFLPREIEILAM
11:65793121-65793121 C>T	0.0	3713	MELANOMA	0.04	rs79062509	ID=COSM1356129;OCCURENCE=1(large_intestine)	-	CATSPER1	ENST00000312106,p.G244R|NM_053054,p.G244R|uc001ogt.3,p.G244R	retained_intron, protein_coding	uc001ogt.3	nonsynonymous SNV	exon1	c.G730A	p.G244R	HEAHQHGKSPHHGETISPHSSVGSY	HEAHQHGKSPHHRETISPHSSVGSY	1.0	3.0	unscreened	-	3713_11:65793121-65793121 C>T_HEAHQHGKSPHHRETISPHSSVGSY
19:58189590-58189590 G>A	0.0	3713	MELANOMA	-	-	-	-	ZSCAN4	ENST00000318203,p.E207K|NM_152677,p.E207K|uc002qpu.3,p.E207K	protein_coding	uc002qpu.3	nonsynonymous SNV	exon5	c.G619A	p.E207K	GWNSSSKTTRVNENITNQGNQIVSL	GWNSSSKTTRVNKNITNQGNQIVSL	1.0	9.0	unscreened	-	3713_19:58189590-58189590 G>A_GWNSSSKTTRVNKNITNQGNQIVSL
1:152777915-152777915 G>A	0.0	3713	MELANOMA	-	-	-	-	LCE1C	uc031ppd.1,p.P14S|ENST00000606576,p.P14S|NM_001276331,p.P14S	protein_coding	uc031ppd.1	nonsynonymous SNV	exon2	c.C40T	p.P14S	SCQQSQQQCQPPPNVSSGGCCGSSS	SCQQSQQQCQPPSNVSSGGCCGSSS	1.0	1.0	unscreened	-	3713_1:152777915-152777915 G>A_SCQQSQQQCQPPSNVSSGGCCGSSS
X:142795263-142795263 C>T	0.0	3713	MELANOMA	-	-	-	-	SPANXN2	NM_001009615,p.E139K|ENST00000370498,p.E139K|uc004fbz.3,p.E139K	protein_coding	uc004fbz.3	nonsynonymous SNV	exon2	c.G415A	p.E139K	DLDSSEGSSQEDEDLDSSEGSSQED	DLDSSEGSSQEDKDLDSSEGSSQED	1.0	1.0	unscreened	-	3713_X:142795263-142795263 C>T_DLDSSEGSSQEDKDLDSSEGSSQED
19:17950298-17950298 G>A	0.0	3713	MELANOMA	-	-	-	1	JAK3	uc010xpx.1,p.P477S	retained_intron, protein_coding, processed_transcript	uc010xpx.1	nonsynonymous SNV	exon10	c.C1429T	p.P477S	DGVAVTLTSCCIPRPKGTARCEPCH	DGVAVTLTSCCISRPKGTARCEPCH	7.0	2.0	unscreened	-	3713_19:17950298-17950298 G>A_DGVAVTLTSCCISRPKGTARCEPCH
18:63477177-63477177 G>A	0.0	3713	MELANOMA	-	-	-	-	CDH7	ENST00000397968,p.E150K|ENST00000323011,p.E150K|uc002ljz.3,p.E150K|ENST00000536984,p.E150K|uc002lka.3,p.E150K|NM_004361,p.E150K|uc002lkb.3,p.E150K|NM_033646,p.E150K	protein_coding, processed_transcript	uc002lkb.3	nonsynonymous SNV	exon3	c.G448A	p.E150K	EFVIKIQDINDNEPKFLDGPYTAGV	EFVIKIQDINDNKPKFLDGPYTAGV	1.0	9.0	unscreened	-	3713_18:63477177-63477177 G>A_EFVIKIQDINDNKPKFLDGPYTAGV
3:155198941-155198941 G>A	0.0	3713	MELANOMA	-	-	-	-	PLCH1	ENST00000414191,p.S1595F|uc021xgf.1,p.S1595F|NM_014996,p.S1595F|ENST00000340059,p.S1633F|uc021xge.1,p.S1633F|ENST00000334686,p.S1595F|NM_001130960,p.S1633F|ENST00000460012,p.S1595F	retained_intron, protein_coding	uc021xgf.1	nonsynonymous SNV	exon22	c.C4784T	p.S1595F	APTPAVNRHSTGSYIAGYLKNTKGG	APTPAVNRHSTGFYIAGYLKNTKGG	1.0	4.0	unscreened	-	3713_3:155198941-155198941 G>A_APTPAVNRHSTGFYIAGYLKNTKGG
15:35082749-35082749 G>A	0.0	3713	MELANOMA	-	-	-	-	ACTC1	uc001ziu.1,p.A333V|ENST00000290378,p.A333V|NM_005159,p.A333V	retained_intron, protein_coding, processed_transcript	uc001ziu.1	nonsynonymous SNV	exon7	c.C998T	p.A333V	ALAPSTMKIKIIAPPERKYSVWIGG	ALAPSTMKIKIIVPPERKYSVWIGG	1.0	3.0	unscreened	-	3713_15:35082749-35082749 G>A_ALAPSTMKIKIIVPPERKYSVWIGG
7:98581730-98581730 T>A	1.0	3713	MELANOMA	-	-	-	1	TRRAP	uc011kis.2,p.Y2988N|ENST00000355540,p.Y2988N|uc003upr.3,p.Y2705N|ENST00000446306,p.Y2988N|NM_003496,p.Y2988N	retained_intron, protein_coding	uc011kis.2	nonsynonymous SNV	exon59	c.T8962A	p.Y2988N	WRQHHYQAIVTAYENSSQHDPSSNN	WRQHHYQAIVTANENSSQHDPSSNN	5.0	9.0	-	-	3713_7:98581730-98581730 T>A_WRQHHYQAIVTANENSSQHDPSSNN
7:103214615-103214615 C>T	0.0	3713	MELANOMA	-	-	-	-	RELN	uc022ajr.1,p.D1479N|uc010liz.3,p.D1479N|NM_173054,p.D1479N|ENST00000343529,p.D1479N|NM_005045,p.D1479N|ENST00000428762,p.D1479N|ENST00000424685,p.D1479N|uc022ajq.1,p.D1479N	retained_intron, protein_coding, processed_transcript	uc022ajr.1	nonsynonymous SNV	exon30	c.G4435A	p.D1479N	GAQVGTGCGTLNDGKSLYFNGPGKR	GAQVGTGCGTLNNGKSLYFNGPGKR	1.0	8.0	unscreened	-	3713_7:103214615-103214615 C>T_GAQVGTGCGTLNNGKSLYFNGPGKR
11:20982052-20982052 T>A	0.0	3713	MELANOMA	-	-	-	-	NELL1	uc001mqe.3,p.C416S|NM_006157,p.C416S|uc010rdp.2,p.C176S|uc010rdo.2,p.C359S|ENST00000325319,p.C359S|NM_001288714,p.C359S|NM_201551,p.C416S|ENST00000532434,p.C416S|uc009yid.3,p.C444S|ENST00000298925,p.C444S|uc001mqf.3,p.C416S|ENST00000357134,p.C416S|NM_001288713,p.C444S	retained_intron, protein_coding, processed_transcript	uc010rdp.2	nonsynonymous SNV	exon9	c.T526A	p.C176S	NSECKNWNTKATCECKSGYISVQGD	NSECKNWNTKATSECKSGYISVQGD	1.0	2.0	unscreened	-	3713_11:20982052-20982052 T>A_NSECKNWNTKATSECKSGYISVQGD
X:125299730-125299730 C>T	0.0	3713	MELANOMA	-	-	-	2	DCAF12L2	NM_001013628,p.V60I|ENST00000360028,p.V60I|ENST00000538699,p.V60I|uc004euk.2,p.V60I	protein_coding	uc004euk.2	nonsynonymous SNV	exon1	c.G178A	p.V60I	RRRLVHYLKGREVGARGPAGLQGFE	RRRLVHYLKGREIGARGPAGLQGFE	1.0	7.0	unscreened	-	3713_X:125299730-125299730 C>T_RRRLVHYLKGREIGARGPAGLQGFE
16:52497935-52497935 G>A	0.0	3713	MELANOMA	-	-	-	-	TOX3	NM_001080430,p.P107S|uc010vgt.1,p.P102S|ENST00000219746,p.P107S|uc002egw.2,p.P107S|ENST00000563091,p.P71S|ENST00000407228,p.P102S|NM_001146188,p.P102S	retained_intron, protein_coding, nonsense_mediated_decay	uc010vgt.1	nonsynonymous SNV	exon4	c.C304T	p.P102S	LPSQGSEFTPQFPPQSLDLPSITIS	LPSQGSEFTPQFSPQSLDLPSITIS	1.0	4.0	unscreened	-	3713_16:52497935-52497935 G>A_LPSQGSEFTPQFSPQSLDLPSITIS
1:75078383-75078383 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1737076;OCCURENCE=1(central_nervous_system)	-	ERICH3	uc001dgg.3,p.R371W|ENST00000326665,p.R371W|uc001dgi.4,p.R165W|NM_001002912,p.R371W|ENST00000420661,p.R174W	protein_coding, processed_transcript	uc001dgi.4	nonsynonymous SNV	exon4	c.C493T	p.R165W	VNRLSSCCEYKHRKGSRLGGKRGYF	VNRLSSCCEYKHWKGSRLGGKRGYF	1.0	9.0	unscreened	-	3713_1:75078383-75078383 G>A_VNRLSSCCEYKHWKGSRLGGKRGYF
8:106813496-106813496 G>A	1.0	3713	MELANOMA	-	-	-	-	ZFPM2	ENST00000378472,p.D127N|ENST00000407775,p.D396N|NM_012082,p.D396N|ENST00000520492,p.D264N|uc003ymd.3,p.D396N|ENST00000517361,p.D264N|uc011lhs.2,p.D127N	protein_coding, processed_transcript	uc011lhs.2	nonsynonymous SNV	exon6	c.G379A	p.D127N	LHVPSGKLPRESDMEHSPSATEDSL	LHVPSGKLPRESNMEHSPSATEDSL	1.0	9.0	unscreened	-	3713_8:106813496-106813496 G>A_LHVPSGKLPRESNMEHSPSATEDSL
11:64517849-64517849 C>T	0.0	3713	MELANOMA	-	-	-	-	PYGM	NM_005609,p.G726R|uc001oay.4,p.G638R|ENST00000377432,p.G638R|ENST00000164139,p.G726R|uc001oax.4,p.G726R|NM_001164716,p.G638R	retained_intron, protein_coding, processed_transcript	uc001oay.4	nonsynonymous SNV	exon15	c.G1912A	p.G638R	MRVEDVDKLDQRGYNAQEYYDRIPE	MRVEDVDKLDQRRYNAQEYYDRIPE	1.0	2.0	unscreened	-	3713_11:64517849-64517849 C>T_MRVEDVDKLDQRRYNAQEYYDRIPE
20:55748216-55748216 C>T	0.0	3713	MELANOMA	-	-	-	-	BMP7	ENST00000450594,p.G396R|uc002xyc.3,p.G396R	retained_intron, protein_coding, processed_transcript	uc002xyc.3	nonsynonymous SNV	exon6	c.G1186A	p.G396R	GVTPSWGVVTWAGQAAGPPDPAASK	GVTPSWGVVTWARQAAGPPDPAASK	3.0	9.0	unscreened	-	3713_20:55748216-55748216 C>T_GVTPSWGVVTWARQAAGPPDPAASK
17:61557842-61557842 G>A	0.0	3713	MELANOMA	-	-	-	-	ACE	uc010wpi.2,p.G267E|uc031rdj.1,p.G267E|ENST00000428043,p.G267E|NM_000789,p.G267E|ENST00000582627,p.G267E|ENST00000538928,p.G267E|ENST00000290866,p.G267E|uc002jau.2,p.G267E|uc010ddu.2,p.G84E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rdj.1	nonsynonymous SNV	exon5	c.G800A	p.G267E	HAFVRRALHRRYGDRYINLRGPIPA	HAFVRRALHRRYEDRYINLRGPIPA	3.0	8.0	unscreened	-	3713_17:61557842-61557842 G>A_HAFVRRALHRRYEDRYINLRGPIPA
18:44143078-44143078 G>A	0.0	3713	MELANOMA	-	-	-	-	LOXHD1	ENST00000398722,p.L572F|uc002lcg.1,p.L572F|NM_144612,p.L850F|ENST00000441551,p.L850F|ENST00000536736,p.L850F|uc010xcw.1,p.L850F	retained_intron, protein_coding, nonsense_mediated_decay	uc010xcw.1	nonsynonymous SNV	exon18	c.C2548T	p.L850F	IYGEKGKTEVLFLSSRSKVFERASK	IYGEKGKTEVLFFSSRSKVFERASK	1.0	8.0	unscreened	-	3713_18:44143078-44143078 G>A_IYGEKGKTEVLFFSSRSKVFERASK
21:35206692-35206692 C>T	1.0	3713	MELANOMA	-	-	-	-	ITSN1	NM_001001132,p.P1145S|uc002ysz.3,p.P1069S|uc010gmj.3,p.P1024S|ENST00000399349,p.P1069S|uc002yta.1,p.P1145S|ENST00000381291,p.P1145S|uc010gmg.3,p.P1032S|ENST00000381285,p.P1145S|ENST00000381318,p.P1145S|NM_003024,p.P1145S|uc002ytj.2,p.P1140S|uc002ysx.3,p.P1103S|ENST00000399353,p.P1103S|uc002ysw.3,p.P1145S|uc002ytb.1,p.P1140S|ENST00000437442,p.P1140S|uc021wip.1,p.P963S|uc002yte.3,p.P1008S|ENST00000399352,p.P1140S|uc010gmk.3,p.P1037S|ENST00000399355,p.P1074S|uc002ysy.3,p.P1140S|uc010gmi.3,p.P1108S|ENST00000399367,p.P1140S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wip.1	nonsynonymous SNV	exon20	c.C2887T	p.P963S	VKLLSPGTSKITPTEPPKSTALAAV	VKLLSPGTSKITSTEPPKSTALAAV	4.0	8.0	-	-	3713_21:35206692-35206692 C>T_VKLLSPGTSKITSTEPPKSTALAAV
17:61574681-61574681 C>T	0.0	3713	MELANOMA	-	-	-	-	ACE	uc010wpj.2,p.S677F|uc010ddv.2,p.S519F|NM_001178057,p.S677F|ENST00000290866,p.S1292F|uc002jau.2,p.S1292F|ENST00000413513,p.S677F|uc010wpk.2,p.S497F|uc002jav.2,p.S718F|NM_152830,p.S718F|ENST00000290863,p.S718F|NM_000789,p.S1292F|ENST00000421982,p.S497F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wpk.2	nonsynonymous SNV	exon12	c.C1490T	p.S497F	LFSIRHRSLHRHSHGPQFGSEVELR	LFSIRHRSLHRHFHGPQFGSEVELR	3.0	2.0	unscreened	-	3713_17:61574681-61574681 C>T_LFSIRHRSLHRHFHGPQFGSEVELR
12:97093815-97093815 G>A	0.0	3713	MELANOMA	-	-	-	-	CDK17,NEDD1	uc021rcc.1,p.G565R|ENST00000524981,p.G591R	-	uc021rcc.1	nonsynonymous SNV	exon13	c.G1693A	p.G565R	SEAFYEISQIFYGKNMPCPIPAGYK	SEAFYEISQIFYRKNMPCPIPAGYK	1.0	6.0	unscreened	-	3713_12:97093815-97093815 G>A_SEAFYEISQIFYRKNMPCPIPAGYK
18:50451648-50451648 C>T	0.0	3713	MELANOMA	-	-	-	2	DCC	ENST00000442544,p.S298F|uc002lfe.2,p.S298F|uc010xdr.1,p.S146F|ENST00000412726,p.S146F|NM_005215,p.S298F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xdr.1	nonsynonymous SNV	exon5	c.C437T	p.S146F	KYSLLGGSNLLISNVTDDDSGMYTC	KYSLLGGSNLLIFNVTDDDSGMYTC	1.0	6.0	unscreened	-	3713_18:50451648-50451648 C>T_KYSLLGGSNLLIFNVTDDDSGMYTC
6:32725081-32725081 C>T	0.0	3713	MELANOMA	-	-	-	-	HLA-DQB2	ENST00000411527,p.R216Q|NM_001198858,p.R216Q|uc003oby.4,p.R216Q	protein_coding	uc003oby.4	nonsynonymous SNV	exon4	c.G647A	p.R216Q	HPSLQSPITVEWRPRGPPPAGLLH	HPSLQSPITVEWQPRGPPPAGLLH	7.0	2.0	unscreened	-	3713_6:32725081-32725081 C>T_HPSLQSPITVEWQPRGPPPAGLLH
1:3383786-3383786 C>T	0.0	3713	MELANOMA	-	-	-	-	ARHGEF16	NM_014448,p.S230F|uc001akg.4,p.S230F|ENST00000378378,p.S230F	retained_intron, protein_coding	uc001akg.4	nonsynonymous SNV	exon4	c.C689T	p.S230F	EIQERGLNTSQESDDDILDESSSPE	EIQERGLNTSQEFDDDILDESSSPE	1.0	7.0	unscreened	-	3713_1:3383786-3383786 C>T_EIQERGLNTSQEFDDDILDESSSPE
10:119303110-119303110 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1504379;OCCURENCE=1(lung)	-	EMX2	ENST00000553456,p.S111L|uc001ldi.4,p.S111L|uc001ldh.4,p.S111L|ENST00000442245,p.S111L|NM_001165924,p.S111L|NM_004098,p.S111L	protein_coding, processed_transcript	uc001ldi.4	nonsynonymous SNV	exon1	c.C332T	p.S111L	LPSSHSPHPLFASQQRDPSTFYPWL	LPSSHSPHPLFALQQRDPSTFYPWL	1.0	5.0	unscreened	-	3713_10:119303110-119303110 C>T_LPSSHSPHPLFALQQRDPSTFYPWL
2:107029563-107029563 C>T	0.0	3713	MELANOMA	-	-	-	2	RGPD3	uc010ywi.1,p.G1748E|NM_001144013,p.G1748E|ENST00000409886,p.G1748E	retained_intron, protein_coding	uc010ywi.1	nonsynonymous SNV	exon22	c.G5243A	p.G1748E	INTMLQLSLEEKGKLAAVAQGEE	INTMLQLSLEEKEKLAAVAQGEE	3.0	2.0	unscreened	-	3713_2:107029563-107029563 C>T_INTMLQLSLEEKEKLAAVAQGEE
10:72492066-72492066 G>A	1.0	3713	MELANOMA	-	-	-	-	ADAMTS14	NM_139155,p.E390K|NM_080722,p.E387K|ENST00000373208,p.E390K|ENST00000373207,p.E387K|uc001jrh.3,p.E387K|uc001jrg.3,p.E390K	protein_coding	uc001jrh.3	nonsynonymous SNV	exon7	c.G1159A	p.E387K	MCHPLRSCALNHEDGFSSAFVIAHE	MCHPLRSCALNHKDGFSSAFVIAHE	2.0	7.0	-	-	3713_10:72492066-72492066 G>A_MCHPLRSCALNHKDGFSSAFVIAHE
10:72291208-72291208 G>A	0.0	3713	MELANOMA	-	-	-	-	PALD1	NM_014431,p.E211K|uc001jrd.4,p.E211K|ENST00000263563,p.E211K	protein_coding	uc001jrd.4	nonsynonymous SNV	exon5	c.G631A	p.E211K	VRVESLELAIRKEIHDFAQLSENTY	VRVESLELAIRKKIHDFAQLSENTY	3.0	6.0	unscreened	-	3713_10:72291208-72291208 G>A_VRVESLELAIRKKIHDFAQLSENTY
13:48528645-48528645 G>A	1.0	3713	MELANOMA	-	-	-	-	SUCLA2	ENST00000543413,p.R226C|ENST00000434484,p.R214C|ENST00000544100,p.R150C|uc010tgd.2,p.R224C|ENST00000433022,p.R136C|ENST00000378654,p.R284C|uc010tgb.2,p.R224C|ENST00000534875,p.R226C|NM_003850,p.R284C|uc010tgc.2,p.R150C|uc001vbs.3,p.R284C	protein_coding, processed_transcript	uc010tgd.2	nonsynonymous SNV	exon8	c.C670T	p.R224C	DAKINFDSNSAYRQKKIFDLQDWTQ	DAKINFDSNSAYCQKKIFDLQDWTQ	5.0	3.0	unscreened	-	3713_13:48528645-48528645 G>A_DAKINFDSNSAYCQKKIFDLQDWTQ
7:92146709-92146709 G>A	1.0	3713	MELANOMA	-	-	-	-	PEX1	ENST00000428214,p.H374Y|ENST00000248633,p.H374Y|NM_001282677,p.H374Y|NM_000466,p.H374Y|uc011khr.2,p.H166Y|NM_001282678,p.H166Y|uc010ley.3,p.H374Y|uc003uly.3,p.H374Y	retained_intron, protein_coding, nonsense_mediated_decay	uc011khr.2	nonsynonymous SNV	exon5	c.C496T	p.H166Y	SEPLDQKKIRSDHNEEDEKACVLQV	SEPLDQKKIRSDYNEEDEKACVLQV	8.0	2.0	-	-	3713_7:92146709-92146709 G>A_SEPLDQKKIRSDYNEEDEKACVLQV
1:12819352-12819352 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1600677;OCCURENCE=2(liver)	-	C1orf158	ENST00000288048,p.P112L|uc010obe.1,p.P112L|ENST00000376210,p.P74L|uc001auh.3,p.P112L|NM_152290,p.P112L	protein_coding, processed_transcript	uc010obe.1	nonsynonymous SNV	exon3	c.C335T	p.P112L	DHYNRHGYNPGLPPLRTWNGQKLLW	DHYNRHGYNPGLLPLRTWNGQKLLW	1.0	8.0	unscreened	-	3713_1:12819352-12819352 C>T_DHYNRHGYNPGLLPLRTWNGQKLLW
1:120337285-120337285 C>T	0.0	3713	MELANOMA	-	-	ID=COSM222545;OCCURENCE=2(skin),1(endometrium)	-	REG4	NM_001159352,p.E145K|ENST00000256585,p.E145K|uc001eif.3,p.E145K|NM_032044,p.E145K|ENST00000354219,p.E145K|uc001eig.3,p.E145K	protein_coding	uc001eig.3	nonsynonymous SNV	exon7	c.G433A	p.E145K	SSNNNFLTWSSNECNKRQHFLCKYR	SSNNNFLTWSSNKCNKRQHFLCKYR	1.0	1.0	unscreened	-	3713_1:120337285-120337285 C>T_SSNNNFLTWSSNKCNKRQHFLCKYR
15:75042296-75042296 G>A	0.0	3713	MELANOMA	0.0005	-	-	-	CYP1A2	ENST00000343932,p.G73R|uc002ayr.1,p.G73R|NM_000761,p.G73R	protein_coding	uc002ayr.1	nonsynonymous SNV	exon2	c.G217A	p.G73R	PHLALSRMSQRYGDVLQIRIGSTPV	PHLALSRMSQRYRDVLQIRIGSTPV	1.0	7.0	unscreened	-	3713_15:75042296-75042296 G>A_PHLALSRMSQRYRDVLQIRIGSTPV
9:35957395-35957395 C>T	0.0	3713	MELANOMA	-	-	-	-	OR2S2	ENST00000341959,p.G234E|uc011lpi.2,p.G234E|NM_019897,p.G234E	protein_coding	uc011lpi.2	nonsynonymous SNV	exon1	c.G701A	p.G234E	IITTILRIPSAEGRKKVFSTCSAHL	IITTILRIPSAEERKKVFSTCSAHL	1.0	2.0	unscreened	-	3713_9:35957395-35957395 C>T_IITTILRIPSAEERKKVFSTCSAHL
7:7472322-7472322 C>T	0.0	3713	MELANOMA	-	-	-	-	COL28A1	NM_001037763,p.G624S|uc003srd.3,p.G179S|uc011jxe.1,p.G307S|ENST00000435823,p.G41S|uc003src.1,p.G624S|ENST00000399429,p.G624S|uc003sre.1,p.G45S	retained_intron, protein_coding, nonsense_mediated_decay	uc011jxe.1	nonsynonymous SNV	exon25	c.G919A	p.G307S	PGLSIRGPKGVQGPRGPVGAPGLKG	PGLSIRGPKGVQSPRGPVGAPGLKG	2.0	9.0	unscreened	-	3713_7:7472322-7472322 C>T_PGLSIRGPKGVQSPRGPVGAPGLKG
2:168100465-168100465 G>A	0.0	3713	MELANOMA	-	-	-	-	XIRP2	uc002udy.3,p.E680K|ENST00000295237,p.E855K|uc010fpq.3,p.E633K|uc002udx.3,p.E855K|NM_001199144,p.E633K|ENST00000409273,p.E633K|ENST00000409195,p.E855K|NM_152381,p.E855K	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.G1897A	p.E633K	WMFETQPLDILKEVPDADSLQREEI	WMFETQPLDILKKVPDADSLQREEI	1.0	5.0	unscreened	-	3713_2:168100465-168100465 G>A_WMFETQPLDILKKVPDADSLQREEI
11:56086466-56086466 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1703984;OCCURENCE=1(skin)	-	OR8K3	uc010rjf.2,p.M228I|ENST00000312711,p.M228I|NM_001005202,p.M228I	protein_coding	uc010rjf.2	nonsynonymous SNV	exon1	c.G684A	p.M228I	LSYLLILVAILRMNSAGRQKAFSTC	LSYLLILVAILRINSAGRQKAFSTC	1.0	8.0	unscreened	-	3713_11:56086466-56086466 G>A_LSYLLILVAILRINSAGRQKAFSTC
14:24878429-24878429 C>T	0.0	3713	MELANOMA	-	-	-	-	NYNRIN	uc001wpf.4,p.P477S|ENST00000382554,p.P477S|NM_025081,p.P477S	protein_coding, processed_transcript	uc001wpf.4	nonsynonymous SNV	exon4	c.C1429T	p.P477S	SSDVKDKVSSDLPQIGPPLTSTPQL	SSDVKDKVSSDLSQIGPPLTSTPQL	2.0	9.0	unscreened	-	3713_14:24878429-24878429 C>T_SSDVKDKVSSDLSQIGPPLTSTPQL
2:179721055-179721055 C>T	0.0	3713	MELANOMA	-	-	-	-	CCDC141	ENST00000295723,p.E357K|NM_173648,p.E932K|ENST00000420890,p.E932K|uc002unf.1,p.E411K|ENST00000343876,p.E376K|ENST00000443758,p.E932K|uc002une.2,p.E932K	protein_coding, processed_transcript	uc002unf.1	nonsynonymous SNV	exon8	c.G1231A	p.E411K	FNNLKFNYTKKNEKSRNLKALKYQI	FNNLKFNYTKKNKKSRNLKALKYQI	1.0	9.0	unscreened	-	3713_2:179721055-179721055 C>T_FNNLKFNYTKKNKKSRNLKALKYQI
9:140685417-140685417 C>T	1.0	3713	MELANOMA	-	-	-	-	EHMT1	ENST00000334856,p.P803S|uc004cob.1,p.P803S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004cob.1	nonsynonymous SNV	exon15	c.C2407T	p.P803S	VKYLIKAGALVDPKIQKTSKVYTES	VKYLIKAGALVDSKIQKTSKVYTES	8.0	5.0	unscreened	-	3713_9:140685417-140685417 C>T_VKYLIKAGALVDSKIQKTSKVYTES
2:128397851-128397851 C>T	0.0	3713	MELANOMA	-	-	-	-	LIMS2	uc002toz.3,p.G261S|uc010fmb.3,p.G176S|NM_017980,p.G290S|ENST00000409286,p.G114S|uc002tow.4,p.G114S|ENST00000409455,p.G261S|uc002toy.3,p.G261S|ENST00000409254,p.G114S|ENST00000355119,p.G266S|NM_001136037,p.G288S|uc010yzm.2,p.G288S|NM_001256542,p.G114S|uc002tpa.3,p.G266S|ENST00000545738,p.G288S|ENST00000410038,p.G114S|uc002tov.3,p.G114S|uc002tox.3,p.G290S|NM_001161403,p.G266S|NM_001161404,p.G261S|ENST00000324938,p.G290S|ENST00000409754,p.G114S|ENST00000410011,p.G261S|ENST00000409808,p.G261S|uc002tpb.3,p.G261S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yzm.2	nonsynonymous SNV	exon9	c.G862A	p.G288S	GDVCYNCSHVIEGDVVSALNKAWCV	GDVCYNCSHVIESDVVSALNKAWCV	3.0	3.0	unscreened	-	3713_2:128397851-128397851 C>T_GDVCYNCSHVIESDVVSALNKAWCV
1:161069174-161069174 G>A	0.0	3713	MELANOMA	-	-	-	-	KLHDC9	ENST00000368011,p.G189D|NM_152366,p.G189D|NM_001007255,p.G189D|uc001fxr.3,p.G189D|uc001fxs.3,p.G189D|ENST00000392192,p.G189D	retained_intron, protein_coding, processed_transcript	uc001fxs.3	nonsynonymous SNV	exon2	c.G566A	p.G189D	YKQEGCHTASRSGHCAALLQTPGPH	YKQEGCHTASRSDHCAALLQTPGPH	1.0	6.0	unscreened	-	3713_1:161069174-161069174 G>A_YKQEGCHTASRSDHCAALLQTPGPH
11:66204330-66204330 G>A	1.0	3713	MELANOMA	-	-	-	-	MRPL11	uc001ohy.4,p.P175L|NM_170739,p.P175L|ENST00000528272,p.P57L|ENST00000329819,p.P175L	protein_coding, processed_transcript, nonsense_mediated_decay	uc001ohy.4	nonsynonymous SNV	exon5	c.C524T	p.P175L	NVLRNGKISMKDPSGRSSV	NVLRNGKISMKDLSGRSSV	7.0	8.0	-	-	3713_11:66204330-66204330 G>A_NVLRNGKISMKDLSGRSSV
14:79454484-79454484 C>T	0.0	3713	MELANOMA	-	-	-	-	NRXN3	uc010asv.1,p.R840C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010asv.1	nonsynonymous SNV	exon11	c.C2518T	p.R840C	SMTSYSGNQCNDRKYNNLSYWNFVK	SMTSYSGNQCNDCKYNNLSYWNFVK	1.0	3.0	unscreened	-	3713_14:79454484-79454484 C>T_SMTSYSGNQCNDCKYNNLSYWNFVK
5:121488698-121488698 G>A	1.0	3713	MELANOMA	-	-	-	-	ZNF474	NM_207317,p.R338K|uc021ycy.1,p.R338K|uc003ksv.3,p.R338K|ENST00000296600,p.R338K	protein_coding, processed_transcript	uc021ycy.1	nonsynonymous SNV	exon1	c.G1013A	p.R338K	LKEYTNSKQQRNRAAPSVTDKVIHA	LKEYTNSKQQRNKAAPSVTDKVIHA	1.0	3.0	unscreened	-	3713_5:121488698-121488698 G>A_LKEYTNSKQQRNKAAPSVTDKVIHA
7:47698798-47698798 G>A	0.0	3713	MELANOMA	-	-	-	-	C7orf65	NM_001123065,p.G143E|uc010kyp.1,p.G143E|ENST00000408988,p.G143E	protein_coding	uc010kyp.1	nonsynonymous SNV	exon3	c.G428A	p.G143E	AWILIVSCKKGKGTPEREGRN	AWILIVSCKKGKETPEREGRN	1.0	9.0	unscreened	-	3713_7:47698798-47698798 G>A_AWILIVSCKKGKETPEREGRN
5:132150298-132150298 G>A	0.0	3713	MELANOMA	-	-	-	-	SOWAHA	ENST00000378693,p.G329R|NM_175873,p.G329R|uc003kxw.3,p.G329R	protein_coding	uc003kxw.3	nonsynonymous SNV	exon1	c.G985A	p.G329R	RTAGGRWTHQLHGLLLRDRGLAAKR	RTAGGRWTHQLHRLLLRDRGLAAKR	1.0	5.0	unscreened	-	3713_5:132150298-132150298 G>A_RTAGGRWTHQLHRLLLRDRGLAAKR
3:48677635-48677635 C>T	1.0	3713	MELANOMA	-	-	-	-	CELSR3	uc003cuf.1,p.R3226Q|ENST00000544264,p.R3133Q|uc010hkg.3,p.R1111Q|ENST00000164024,p.R3128Q|NM_001407,p.R3128Q|uc010hkf.3,p.R418Q|uc003cul.3,p.R3128Q	retained_intron, protein_coding	uc010hkg.3	nonsynonymous SNV	exon24	c.G3332A	p.R1111Q	DRGSTLPRRQPPRDYPGAMAGRFGS	DRGSTLPRRQPPQDYPGAMAGRFGS	3.0	2.0	unscreened	-	3713_3:48677635-48677635 C>T_DRGSTLPRRQPPQDYPGAMAGRFGS
X:47434559-47434559 C>T	0.0	3713	MELANOMA	-	-	-	-	SYN1	ENST00000340666,p.D425N|uc004die.3,p.D425N|ENST00000295987,p.D425N|NM_006950,p.D425N|NM_133499,p.D425N|uc004did.3,p.D425N	protein_coding	uc004die.3	nonsynonymous SNV	exon10	c.G1273A	p.D425N	KMAQALPRQRQRDASPGRGSHGQTP	KMAQALPRQRQRNASPGRGSHGQTP	1.0	9.0	unscreened	-	3713_X:47434559-47434559 C>T_KMAQALPRQRQRNASPGRGSHGQTP
12:8672928-8672928 C>T	0.0	3713	MELANOMA	-	-	-	-	CLEC4D	ENST00000299665,p.P164L|NM_080387,p.P164L|uc001qun.3,p.P164L	protein_coding	uc001qun.3	nonsynonymous SNV	exon5	c.C491T	p.P164L	GQWRWVDQTPFNPRRVFWHKNEPDN	GQWRWVDQTPFNLRRVFWHKNEPDN	2.0	4.0	unscreened	-	3713_12:8672928-8672928 C>T_GQWRWVDQTPFNLRRVFWHKNEPDN
7:98581730-98581730 T>A	1.0	3713	MELANOMA	-	-	-	1	TRRAP	uc003upp.3,p.Y3017N|NM_001244580,p.Y3017N|ENST00000359863,p.Y3017N	retained_intron, protein_coding	uc003upp.3	nonsynonymous SNV	exon60	c.T9049A	p.Y3017N	WSGMHSSSIVTAYENSSQHDPSSNN	WSGMHSSSIVTANENSSQHDPSSNN	5.0	9.0	unscreened	-	3713_7:98581730-98581730 T>A_WSGMHSSSIVTANENSSQHDPSSNN
10:55570420-55570420 C>T	0.0	3713	MELANOMA	-	-	-	-	PCDH15	ENST00000395438,p.M1483I|ENST00000409834,p.M1094I|uc021pqv.1,p.M1483I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqv.1	nonsynonymous SNV	exon34	c.G4449A	p.M1483I	NMDKIITVMSMGMKCLNMGVAVDCY	NMDKIITVMSMGIKCLNMGVAVDCY	1.0	5.0	unscreened	-	3713_10:55570420-55570420 C>T_NMDKIITVMSMGIKCLNMGVAVDCY
15:54305561-54305561 G>A	0.0	3713	MELANOMA	-	-	-	-	UNC13C	uc021sms.1,p.R154K|ENST00000537900,p.R154K|ENST00000545554,p.R154K|ENST00000260323,p.R154K|uc021smr.1,p.R154K|NM_001080534,p.R154K	retained_intron, protein_coding	uc021sms.1	nonsynonymous SNV	exon1	c.G461A	p.R154K	AQSTHTMPVRRNRKSSSSLAPSEGS	AQSTHTMPVRRNKKSSSSLAPSEGS	1.0	9.0	unscreened	-	3713_15:54305561-54305561 G>A_AQSTHTMPVRRNKKSSSSLAPSEGS
19:51022147-51022147 C>T	0.0	3713	MELANOMA	-	-	-	-	LRRC4B	ENST00000599957,p.D275N|ENST00000389201,p.D275N|NM_001080457,p.D275N|uc002pss.3,p.D275N	protein_coding	uc002pss.3	nonsynonymous SNV	exon3	c.G823A	p.D275N	AQVATIERNAFDDLKSLEELNLSHN	AQVATIERNAFDNLKSLEELNLSHN	1.0	4.0	unscreened	-	3713_19:51022147-51022147 C>T_AQVATIERNAFDNLKSLEELNLSHN
3:133557095-133557095 G>A	0.0	3713	MELANOMA	-	-	-	-	RAB6B	ENST00000486858,p.T124I|ENST00000285208,p.T137I|NM_016577,p.T137I|ENST00000477759,p.T104I|uc003epy.3,p.T137I|uc011blu.1,p.T124I|ENST00000543906,p.T137I	protein_coding	uc011blu.1	nonsynonymous SNV	exon7	c.C371T	p.T124I	GNKTDLADKRQITIEEGEQRAKELS	GNKTDLADKRQIIIEEGEQRAKELS	1.0	4.0	unscreened	-	3713_3:133557095-133557095 G>A_GNKTDLADKRQIIIEEGEQRAKELS
4:185012391-185012391 G>C	0.0	3713	MELANOMA	-	-	-	-	ENPP6	ENST00000296741,p.A421G|uc003iwc.3,p.A421G|NM_153343,p.A421G	retained_intron, protein_coding	uc003iwc.3	nonsynonymous SNV	exon8	c.C1262G	p.A421G	RVMCMLKGRASTAPPVWPSHCALAL	RVMCMLKGRASTGPPVWPSHCALAL	1.0	3.0	unscreened	-	3713_4:185012391-185012391 G>C_RVMCMLKGRASTGPPVWPSHCALAL
8:13959892-13959892 T>G	0.0	3713	MELANOMA	-	-	-	-	SGCZ	ENST00000382080,p.E246A|ENST00000421524,p.E199A|NM_139167,p.E246A|uc003wwq.3,p.E246A|uc010lss.3,p.E199A	protein_coding	uc010lss.3	nonsynonymous SNV	exon5	c.A596C	p.E199A	ATCRKELHLQSTEGEIFLNAETIKL	ATCRKELHLQSTAGEIFLNAETIKL	1.0	6.0	unscreened	-	3713_8:13959892-13959892 T>G_ATCRKELHLQSTAGEIFLNAETIKL
15:74181428-74181428 G>A	0.0	3713	MELANOMA	-	-	-	-	TBC1D21	uc010ulc.2,p.D297N|ENST00000300504,p.D333N|NM_001286434,p.D297N|ENST00000535547,p.D297N|NM_153356,p.D333N|uc002avz.3,p.D333N|ENST00000562056,p.D296N	protein_coding	uc010ulc.2	nonsynonymous SNV	exon10	c.G889A	p.D297N	ELIQKDVPQTLKDFFL	ELIQKDVPQTLKNFFL	1.0	9.0	unscreened	-	3713_15:74181428-74181428 G>A_ELIQKDVPQTLKNFFL
3:175293893-175293893 T>A	0.0	3713	MELANOMA	-	-	-	-	NAALADL2	ENST00000454872,p.I573K|NM_207015,p.I573K|uc003fiu.1,p.I566K|uc003fit.3,p.I573K|uc010hwy.2,p.I332K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hwy.2	nonsynonymous SNV	exon9	c.T995A	p.I332K	AQCPETNISSIQIQGDADYFINHLG	AQCPETNISSIQKQGDADYFINHLG	3.0	3.0	unscreened	-	3713_3:175293893-175293893 T>A_AQCPETNISSIQKQGDADYFINHLG
5:154393480-154393480 C>T	0.0	3713	MELANOMA	-	-	-	-	KIF4B	uc010jih.1,p.P21S|ENST00000435029,p.P21S|NM_001099293,p.P21S	protein_coding	uc010jih.1	nonsynonymous SNV	exon1	c.C61T	p.P21S	PVRVALRCRPLVPKEISEGCQMCLS	PVRVALRCRPLVSKEISEGCQMCLS	1.0	3.0	unscreened	-	3713_5:154393480-154393480 C>T_PVRVALRCRPLVSKEISEGCQMCLS
2:179702336-179702336 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1691635,COSM1691636;OCCURENCE=1(skin)	-	CCDC141	uc002une.2,p.E1204K|uc002unf.1,p.E683K|ENST00000295723,p.E629K|ENST00000420890,p.E1204K|ENST00000343876,p.E648K|NM_173648,p.E1204K	protein_coding, processed_transcript	uc002unf.1	nonsynonymous SNV	exon13	c.G2047A	p.E683K	QDLLLPEDMLSGEEYECVSPDDISL	QDLLLPEDMLSGKEYECVSPDDISL	1.0	4.0	unscreened	-	3713_2:179702336-179702336 C>T_QDLLLPEDMLSGKEYECVSPDDISL
12:120241121-120241121 G>A	1.0	3713	MELANOMA	-	-	-	-	CIT	NM_001206999,p.S395L|NM_007174,p.S395L|ENST00000392521,p.S395L|ENST00000261833,p.S395L|uc001txj.2,p.S395L|uc001txi.2,p.S395L	retained_intron, protein_coding, processed_transcript	uc001txj.2	nonsynonymous SNV	exon10	c.C1184T	p.S395L	DDTSNFDEPEKNSWVSSSPCQLSPS	DDTSNFDEPEKNLWVSSSPCQLSPS	3.0	8.0	-	-	3713_12:120241121-120241121 G>A_DDTSNFDEPEKNLWVSSSPCQLSPS
1:115130053-115130053 G>A	0.0	3713	MELANOMA	-	-	-	-	DENND2C	uc001efd.1,p.P904S|uc001efc.1,p.P847S|ENST00000393274,p.P904S|ENST00000393277,p.P792S|NM_001256404,p.P904S|NM_198459,p.P847S|ENST00000393276,p.P847S	protein_coding, processed_transcript	uc001efd.1	nonsynonymous SNV	exon20	c.C2710T	p.P904S	FEIRAIQYLETIPESEPSGMNRILR	FEIRAIQYLETISESEPSGMNRILR	1.0	3.0	unscreened	-	3713_1:115130053-115130053 G>A_FEIRAIQYLETISESEPSGMNRILR
9:140147808-140147808 C>T	1.0	3713	MELANOMA	-	-	-	-	C9orf173	NM_001256700,p.P297S|uc004cml.2,p.P297S|NM_001256699,p.P352S|uc004cmk.2,p.P352S|ENST00000388931,p.P352S	protein_coding	uc004cml.2	nonsynonymous SNV	exon6	c.C889T	p.P297S	PLGLGAPAWPSDPLGTPMHPSGWPT	PLGLGAPAWPSDSLGTPMHPSGWPT	1.0	3.0	unscreened	-	3713_9:140147808-140147808 C>T_PLGLGAPAWPSDSLGTPMHPSGWPT
17:64224206-64224206 C>T	0.0	3713	MELANOMA	-	-	-	-	APOH	uc002jfn.4,p.R58Q|ENST00000205948,p.R58Q|ENST00000577982,p.R58Q|NM_000042,p.R58Q	protein_coding	uc002jfn.4	nonsynonymous SNV	exon2	c.G173A	p.R58Q	EITYSCKPGYVSRGGMRKFICPLTG	EITYSCKPGYVSQGGMRKFICPLTG	1.0	9.0	unscreened	-	3713_17:64224206-64224206 C>T_EITYSCKPGYVSQGGMRKFICPLTG
2:231774728-231774728 G>A	0.0	3713	MELANOMA	-	-	-	-	GPR55	uc021vxz.1,p.S317F|NM_005683,p.S317F|ENST00000444078,p.S317F|ENST00000392040,p.S317F|uc010fxs.1,p.S317F|ENST00000392039,p.S317F|uc002vrg.3,p.S317F	protein_coding, nonsense_mediated_decay	uc021vxz.1	nonsynonymous SNV	exon1	c.C950T	p.S317F	SRVQLVLQDTTISRG	SRVQLVLQDTTIFRG	1.0	7.0	unscreened	-	3713_2:231774728-231774728 G>A_SRVQLVLQDTTIFRG
10:13541783-13541783 G>A	0.0	3713	MELANOMA	-	-	-	-	BEND7	NM_152751,p.S96F|uc001imm.2,p.S96F|ENST00000396900,p.S148F|ENST00000341083,p.S96F	protein_coding, processed_transcript	uc001imm.2	nonsynonymous SNV	exon3	c.C287T	p.S96F	RTFQSQPHPTTSSNGELPVVNSSAG	RTFQSQPHPTTSFNGELPVVNSSAG	1.0	4.0	unscreened	-	3713_10:13541783-13541783 G>A_RTFQSQPHPTTSFNGELPVVNSSAG
19:41515263-41515263 A>G	0.0	3713	MELANOMA	-	rs2279343	-	-	CYP2B6	uc002opr.1,p.K262R|NM_000767,p.K262R|ENST00000324071,p.K262R	retained_intron, protein_coding, processed_transcript	uc002opr.1	nonsynonymous SNV	exon5	c.A785G	p.K262R	EKHRETLDPSAPKDLIDTYLLHMEK	EKHRETLDPSAPRDLIDTYLLHMEK	1.0	2.0	unscreened	-	3713_19:41515263-41515263 A>G_EKHRETLDPSAPRDLIDTYLLHMEK
19:8665955-8665955 C>T	0.0	3713	MELANOMA	-	-	-	-	ADAMTS10	ENST00000270328,p.E223K|NM_030957,p.E223K|ENST00000596851,p.E223K|ENST00000593913,p.E223K|uc002mkj.1,p.E223K|ENST00000597188,p.E223K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkj.1	nonsynonymous SNV	exon6	c.G667A	p.E223K	TLKPPPARPLGNETERGQPGLKRSV	TLKPPPARPLGNKTERGQPGLKRSV	5.0	2.0	unscreened	-	3713_19:8665955-8665955 C>T_TLKPPPARPLGNKTERGQPGLKRSV
6:125284024-125284024 G>A	0.0	3713	MELANOMA	-	-	-	-	RNF217	ENST00000521654,p.E112K|NM_001286398,p.E112K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	NM_001286398	nonsynonymous SNV	exon1	c.G334A	p.E112K	TLPLQLELEEEEEEAGDRKEGGDEQ	TLPLQLELEEEEKEAGDRKEGGDEQ	3.0	2.0	unscreened	-	3713_6:125284024-125284024 G>A_TLPLQLELEEEEKEAGDRKEGGDEQ
18:47769429-47769429 C>T	1.0	3713	MELANOMA	-	-	-	-	CFAP53	ENST00000398545,p.E352K|NM_145020,p.E352K|uc002lee.2,p.E352K	protein_coding	uc002lee.2	nonsynonymous SNV	exon6	c.G1054A	p.E352K	KIYHKYLAQRREEEKAQEKEFDRIL	KIYHKYLAQRREKEKAQEKEFDRIL	1.0	8.0	unscreened	-	3713_18:47769429-47769429 C>T_KIYHKYLAQRREKEKAQEKEFDRIL
12:119540070-119540070 C>T	0.0	3713	MELANOMA	-	-	-	-	SRRM4	uc001txa.2,p.P54L|ENST00000267260,p.P54L|NM_194286,p.P54L	protein_coding, processed_transcript	uc001txa.2	nonsynonymous SNV	exon2	c.C161T	p.P54L	LPRTEPQNNPVVPAQDGPSEKLGQH	LPRTEPQNNPVVLAQDGPSEKLGQH	1.0	8.0	unscreened	-	3713_12:119540070-119540070 C>T_LPRTEPQNNPVVLAQDGPSEKLGQH
1:159898162-159898162 C>T	0.0	3713	MELANOMA	-	-	-	-	IGSF9	NM_001135050,p.E1006K|ENST00000361509,p.E990K|uc001fur.2,p.E1006K|uc001fuq.2,p.E990K|ENST00000368094,p.E1006K|uc001fup.2,p.E152K|NM_020789,p.E990K	protein_coding, processed_transcript	uc001fur.2	nonsynonymous SNV	exon19	c.G3016A	p.E1006K	PPYTALADWTLRERLLPGLLPAAPR	PPYTALADWTLRKRLLPGLLPAAPR	1.0	7.0	unscreened	-	3713_1:159898162-159898162 C>T_PPYTALADWTLRKRLLPGLLPAAPR
10:91143629-91143629 C>T	0.0	3713	MELANOMA	-	-	-	-	IFIT1B	NM_001010987,p.R187C|uc001kgh.3,p.R187C|ENST00000371809,p.R187C	protein_coding	uc001kgh.3	nonsynonymous SNV	exon2	c.C559T	p.R187C	PEFNTGYAITVYRLDKFNTASGRNK	PEFNTGYAITVYCLDKFNTASGRNK	1.0	7.0	unscreened	-	3713_10:91143629-91143629 C>T_PEFNTGYAITVYCLDKFNTASGRNK
16:66997711-66997711 G>A	0.0	3713	MELANOMA	-	-	-	-	CES3	ENST00000394037,p.V145I|NM_001185177,p.V145I|uc010cdz.3,p.V145I|NM_024922,p.V145I|ENST00000303334,p.V145I|ENST00000570236,p.V145I|uc002eqt.3,p.V145I	retained_intron, protein_coding, nonsense_mediated_decay	uc010cdz.3	nonsynonymous SNV	exon4	c.G433A	p.V145I	AEVPAGSGRPVMVWVHGGALITGAA	AEVPAGSGRPVMIWVHGGALITGAA	1.0	7.0	unscreened	-	3713_16:66997711-66997711 G>A_AEVPAGSGRPVMIWVHGGALITGAA
7:142561730-142561730 G>A	0.0	3713	MELANOMA	-	-	-	-	EPHB6	NM_004445,p.E58K|uc011kst.2,p.E58K|ENST00000442129,p.E58K|ENST00000422643,p.E58K|ENST00000392957,p.E58K|uc011ksu.2,p.E58K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ksu.2	nonsynonymous SNV	exon7	c.G172A	p.E58K	IGWLTYPPGGWDEVSVLDDQRRLTR	IGWLTYPPGGWDKVSVLDDQRRLTR	1.0	5.0	unscreened	-	3713_7:142561730-142561730 G>A_IGWLTYPPGGWDKVSVLDDQRRLTR
10:55568940-55568940 C>T	0.0	3713	MELANOMA	-	-	-	-	PCDH15	ENST00000395445,p.E1624K|uc010qht.2,p.E1622K|ENST00000395442,p.E489K|ENST00000395446,p.E820K|ENST00000395440,p.E558K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qht.2	nonsynonymous SNV	exon35	c.G4864A	p.E1622K	EESEFSESETTEEESESETPSEEEE	EESEFSESETTEKESESETPSEEEE	1.0	9.0	unscreened	-	3713_10:55568940-55568940 C>T_EESEFSESETTEKESESETPSEEEE
3:46755839-46755839 C>A	0.0	3713	MELANOMA	-	-	-	-	PRSS50	NM_013270,p.G208V|uc003cqf.2,p.G122V|ENST00000460241,p.G208V|ENST00000315170,p.G208V|uc003cqe.1,p.G208V	protein_coding	uc003cqf.2	nonsynonymous SNV	exon6	c.G365T	p.G122V	RFWSWVGQANDIGLLKLKQELKYSN	RFWSWVGQANDIVLLKLKQELKYSN	1.0	7.0	unscreened	-	3713_3:46755839-46755839 C>A_RFWSWVGQANDIVLLKLKQELKYSN
1:223567686-223567686 C>T	0.0	3713	MELANOMA	-	-	-	-	CCDC185	NM_152610,p.S290L|uc001hoa.2,p.S290L|ENST00000366875,p.S290L	protein_coding	uc001hoa.2	nonsynonymous SNV	exon1	c.C869T	p.S290L	QQAAKAWEELKRSDQKVQMTLERER	QQAAKAWEELKRLDQKVQMTLERER	1.0	8.0	unscreened	-	3713_1:223567686-223567686 C>T_QQAAKAWEELKRLDQKVQMTLERER
19:17950298-17950298 G>A	0.0	3713	MELANOMA	-	-	-	1	JAK3	ENST00000527670,p.P477S|ENST00000458235,p.P477S|ENST00000534444,p.P477S|NM_000215,p.P477S|uc002nhn.4,p.P477S|uc002nho.2,p.P477S	retained_intron, protein_coding, processed_transcript	uc002nho.2	nonsynonymous SNV	exon10	c.C1429T	p.P477S	DGVAVTLTSCCIPRPKEKSNLIVVQ	DGVAVTLTSCCISRPKEKSNLIVVQ	7.0	2.0	unscreened	-	3713_19:17950298-17950298 G>A_DGVAVTLTSCCISRPKEKSNLIVVQ
6:44144010-44144010 G>A	0.0	3713	MELANOMA	-	-	-	-	CAPN11	NM_007058,p.M312I|ENST00000398776,p.M312I|ENST00000542245,p.M312I|uc003owt.1,p.M312I	retained_intron, protein_coding, nonsense_mediated_decay	uc003owt.1	nonsynonymous SNV	exon9	c.G936A	p.M312I	VTGLQDVHYRGKMETLIRVRNPWGR	VTGLQDVHYRGKIETLIRVRNPWGR	1.0	5.0	unscreened	-	3713_6:44144010-44144010 G>A_VTGLQDVHYRGKIETLIRVRNPWGR
18:56247515-56247515 G>A	0.0	3713	MELANOMA	-	-	-	-	ALPK2	ENST00000361673,p.P165S|uc002lhj.4,p.P165S|NM_052947,p.P165S	retained_intron, protein_coding, processed_transcript	uc002lhj.4	nonsynonymous SNV	exon4	c.C493T	p.P165S	ISPGTPRSADSSPSKSNHSLSLQSL	ISPGTPRSADSSSSKSNHSLSLQSL	1.0	2.0	-	-	3713_18:56247515-56247515 G>A_ISPGTPRSADSSSSKSNHSLSLQSL
6:54806494-54806494 G>A	0.0	3713	MELANOMA	-	-	-	-	FAM83B	uc003pck.4,p.E909K|NM_001010872,p.E909K|ENST00000306858,p.E909K	protein_coding	uc003pck.4	nonsynonymous SNV	exon5	c.G2725A	p.E909K	RDSREINAVVTPERRPTSSPRPTSS	RDSREINAVVTPKRRPTSSPRPTSS	1.0	2.0	unscreened	-	3713_6:54806494-54806494 G>A_RDSREINAVVTPKRRPTSSPRPTSS
15:34649586-34649586 G>A	0.0	3713	MELANOMA	-	-	-	1	NUTM1	uc010ucc.2,p.R1126K|ENST00000333756,p.R1098K|NM_001284293,p.R1116K|uc010ucd.2,p.R1116K|ENST00000537011,p.R1126K|ENST00000438749,p.R1116K|uc001zif.3,p.R1098K|NM_175741,p.R1098K|NM_001284292,p.R1126K	protein_coding	uc010ucd.2	nonsynonymous SNV	exon7	c.G3347A	p.R1116K	KTPHSGAQLGVPREKPLALGVVRPS	KTPHSGAQLGVPKEKPLALGVVRPS	1.0	3.0	unscreened	-	3713_15:34649586-34649586 G>A_KTPHSGAQLGVPKEKPLALGVVRPS
12:57975664-57975664 C>T	0.0	3713	MELANOMA	-	-	-	-	KIF5A	ENST00000286452,p.S885F|uc001sor.1,p.S974F|ENST00000455537,p.S974F|NM_004984,p.S974F|uc010srr.1,p.S885F	retained_intron, protein_coding	uc010srr.1	nonsynonymous SNV	exon23	c.C2654T	p.S885F	TPSSTSDMYFANSCTSSGATSSGGP	TPSSTSDMYFANFCTSSGATSSGGP	1.0	3.0	unscreened	-	3713_12:57975664-57975664 C>T_TPSSTSDMYFANFCTSSGATSSGGP
15:65621408-65621408 C>T	0.0	3713	MELANOMA	-	-	-	-	IGDCC3	ENST00000327987,p.G762R|uc002aor.1,p.G48R|uc002aos.2,p.G762R|NM_004884,p.G762R	retained_intron, protein_coding, processed_transcript	uc002aos.2	nonsynonymous SNV	exon14	c.G2284A	p.G762R	SVLPLQGCGLMEGKTTEAKTTEATA	SVLPLQGCGLMERKTTEAKTTEATA	1.0	5.0	unscreened	-	3713_15:65621408-65621408 C>T_SVLPLQGCGLMERKTTEAKTTEATA
3:407726-407726 T>C	0.0	3713	MELANOMA	-	-	-	-	CHL1	uc003bou.3,p.L544S|uc003bow.2,p.L544S|uc011asi.2,p.L560S|NM_006614,p.L560S|ENST00000256509,p.L560S|NM_001253388,p.L560S|uc003bot.3,p.L560S|ENST00000397491,p.L544S|NM_001253387,p.L544S	protein_coding, processed_transcript, nonsense_mediated_decay	uc011asi.2	nonsynonymous SNV	exon13	c.T1679C	p.L560S	LELHCESKCDSHLKHSLKLSWSKDG	LELHCESKCDSHSKHSLKLSWSKDG	4.0	8.0	unscreened	-	3713_3:407726-407726 T>C_LELHCESKCDSHSKHSLKLSWSKDG
2:175436631-175436631 G>A	0.0	3713	MELANOMA	-	-	-	-	WIPF1	ENST00000359761,p.S301L|ENST00000409891,p.S301L|uc010fqt.1,p.S301L|uc010zep.1,p.S301L|ENST00000392547,p.S301L|uc002uja.3,p.S301L|NM_001077269,p.S301L|ENST00000392546,p.S301L|ENST00000272746,p.S301L|uc002ujb.2,p.S301L|uc002ujc.1,p.S301L|NM_003387,p.S301L|ENST00000409415,p.S301L|uc002uiz.3,p.S301L	retained_intron, protein_coding, processed_transcript	uc010zep.1	nonsynonymous SNV	exon5	c.C902T	p.S301L	NNKPPVPSTPRPSASSQAPPPPPPP	NNKPPVPSTPRPLASSQAPPPPPPP	9.0	2.0	unscreened	-	3713_2:175436631-175436631 G>A_NNKPPVPSTPRPLASSQAPPPPPPP
10:44052942-44052942 G>A	0.0	3713	MELANOMA	-	-	-	-	ZNF239	uc009xmj.3,p.P196S|ENST00000374446,p.P196S|ENST00000426961,p.P196S|NM_001099283,p.P196S|NM_005674,p.P196S|ENST00000535642,p.P196S|uc001jaw.4,p.P196S|uc009xmk.3,p.P196S|uc021pph.1,p.P196S|NM_001099282,p.P196S|uc001jax.4,p.P196S|NM_001099284,p.P196S|ENST00000306006,p.P196S	protein_coding, processed_transcript	uc021pph.1	nonsynonymous SNV	exon1	c.C586T	p.P196S	CGKILNTSPDGHPYEKIHTAEKQYE	CGKILNTSPDGHSYEKIHTAEKQYE	1.0	6.0	unscreened	-	3713_10:44052942-44052942 G>A_CGKILNTSPDGHSYEKIHTAEKQYE
22:20131179-20131179 C>T	1.0	3713	MELANOMA	-	-	-	-	ZDHHC8	ENST00000334554,p.P676S|ENST00000320602,p.P584S|ENST00000405930,p.P676S|uc002zrr.2,p.P676S|NM_001185024,p.P676S|uc002zrq.3,p.P676S|NM_013373,p.P676S|uc010gsa.3,p.P482S	retained_intron, protein_coding, processed_transcript	uc010gsa.3	nonsynonymous SNV	exon6	c.C1444T	p.P482S	SHRSPARQGLPSPPGTPHSPSYAGP	SHRSPARQGLPSSPGTPHSPSYAGP	8.0	5.0	unscreened	-	3713_22:20131179-20131179 C>T_SHRSPARQGLPSSPGTPHSPSYAGP
13:111155614-111155614 C>T	1.0	3713	MELANOMA	-	-	-	-	COL4A2	ENST00000360467,p.L1342F|NM_001846,p.L1342F|uc001vqx.3,p.L1342F	protein_coding, processed_transcript	uc001vqx.3	nonsynonymous SNV	exon42	c.C4024T	p.L1342F	DSGPQGRPGVFGLPGEKGPRGEQGF	DSGPQGRPGVFGFPGEKGPRGEQGF	8.0	6.0	-	-	3713_13:111155614-111155614 C>T_DSGPQGRPGVFGFPGEKGPRGEQGF
5:75427741-75427741 G>A	0.0	3713	MELANOMA	-	-	-	-	SV2C	ENST00000502798,p.D56N|NM_014979,p.D56N|NM_001297716,p.D56N|uc003kei.1,p.D56N|ENST00000322285,p.D56N	retained_intron, protein_coding	uc003kei.1	nonsynonymous SNV	exon2	c.G166A	p.D56N	RSYSRFQDEEDDDDYYPAGETYNGE	RSYSRFQDEEDDNDYYPAGETYNGE	1.0	3.0	unscreened	-	3713_5:75427741-75427741 G>A_RSYSRFQDEEDDNDYYPAGETYNGE
3:151148157-151148157 A>G	1.0	3713	MELANOMA	-	-	-	-	MED12L	NM_053002,p.K2125R|ENST00000273432,p.K1789R|uc003eyp.3,p.K2125R|uc011bnz.2,p.K1789R|ENST00000474524,p.K2125R	protein_coding, processed_transcript	uc011bnz.2	nonsynonymous SNV	exon36	c.A5366G	p.K1789R	QQQTAALVRQLQKQLSSNQPQQGVT	QQQTAALVRQLQRQLSSNQPQQGVT	1.0	3.0	unscreened	-	3713_3:151148157-151148157 A>G_QQQTAALVRQLQRQLSSNQPQQGVT
1:152279804-152279804 C>T	1.0	3713	MELANOMA	-	-	-	-	FLG	ENST00000368799,p.D2520N|NM_002016,p.D2520N|uc001ezu.1,p.D2520N	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.G7558A	p.D2520N	SGSRSASRQTRNDEQSGDGSRHSGS	SGSRSASRQTRNNEQSGDGSRHSGS	1.0	9.0	unscreened	-	3713_1:152279804-152279804 C>T_SGSRSASRQTRNNEQSGDGSRHSGS
14:19553873-19553873 C>T	0.0	3713	MELANOMA	-	-	ID=COSM136956;OCCURENCE=1(skin)	-	POTEG	ENST00000552966,p.P153S|NM_001005356,p.P153S|ENST00000409832,p.P153S|uc001vuz.1,p.P153S|ENST00000547889,p.P153S	protein_coding, nonsense_mediated_decay	uc001vuz.1	nonsynonymous SNV	exon1	c.C457T	p.P153S	DKLHRAAWWGKVPRKDLIVMLKDTD	DKLHRAAWWGKVSRKDLIVMLKDTD	1.0	3.0	unscreened	-	3713_14:19553873-19553873 C>T_DKLHRAAWWGKVSRKDLIVMLKDTD
4:167983801-167983801 C>T	0.0	3713	MELANOMA	-	-	-	-	SPOCK3	NM_016950,p.E64K|ENST00000502741,p.E64K|ENST00000502330,p.E64K|ENST00000512042,p.E64K|uc003iri.1,p.E64K|ENST00000511531,p.E64K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003iri.1	nonsynonymous SNV	exon3	c.G190A	p.E64K	DKEVGQWNKFRDEVEDDYFRTWSPG	DKEVGQWNKFRDKVEDDYFRTWSPG	1.0	6.0	unscreened	-	3713_4:167983801-167983801 C>T_DKEVGQWNKFRDKVEDDYFRTWSPG
19:51728741-51728741 C>T	0.0	3713	MELANOMA	-	-	-	-	CD33	ENST00000262262,p.S102F|uc002pwa.2,p.S102F|NM_001772,p.S102F|NM_001177608,p.S102F|ENST00000391796,p.S102F|uc010eos.1,p.S102F	retained_intron, protein_coding, processed_transcript	uc010eos.1	nonsynonymous SNV	exon2	c.C305T	p.S102F	FRLLGDPSRNNCSLSIVDARRRDNG	FRLLGDPSRNNCFLSIVDARRRDNG	5.0	4.0	unscreened	-	3713_19:51728741-51728741 C>T_FRLLGDPSRNNCFLSIVDARRRDNG
11:5529497-5529497 C>T	0.0	3713	MELANOMA	-	-	-	-	UBQLN3	NM_017481,p.G431E|ENST00000311659,p.G431E|uc001may.1,p.G431E|uc021qcw.1,p.G431E	protein_coding	uc021qcw.1	nonsynonymous SNV	exon1	c.G1292A	p.G431E	NSTGQGGDQDGAGKSSTGHSTNLPD	NSTGQGGDQDGAEKSSTGHSTNLPD	1.0	3.0	unscreened	-	3713_11:5529497-5529497 C>T_NSTGQGGDQDGAEKSSTGHSTNLPD
6:38919188-38919188 G>A	0.0	3713	MELANOMA	-	-	-	-	DNAH8	uc003ooe.2,p.E3898K|ENST00000441566,p.E3862K|ENST00000359357,p.E3898K|uc021yzh.1,p.E4115K|NM_001206927,p.E4115K|ENST00000449981,p.E4115K|ENST00000327475,p.E4103K|uc003oog.1,p.E347K	protein_coding	uc021yzh.1	nonsynonymous SNV	exon82	c.G12343A	p.E4115K	EEKYTEPVILNLEKTWEESDTRTPL	EEKYTEPVILNLKKTWEESDTRTPL	1.0	7.0	unscreened	-	3713_6:38919188-38919188 G>A_EEKYTEPVILNLKKTWEESDTRTPL
7:37927938-37927938 C>T	0.0	3713	MELANOMA	-	-	-	-	NME8	ENST00000199447,p.S436L|uc003tfn.3,p.S436L|ENST00000440017,p.S436L|NM_016616,p.S436L	retained_intron, protein_coding, nonsense_mediated_decay	uc003tfn.3	nonsynonymous SNV	exon15	c.C1307T	p.S436L	DSLPVNQLYGSDSLETAEREIQHFF	DSLPVNQLYGSDLLETAEREIQHFF	1.0	6.0	unscreened	-	3713_7:37927938-37927938 C>T_DSLPVNQLYGSDLLETAEREIQHFF
4:21305506-21305506 C>T	0.0	3713	MELANOMA	-	-	-	-	KCNIP4	NM_147183,p.M8I|uc003gqf.1,p.M8I|ENST00000382150,p.M8I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gqf.1	nonsynonymous SNV	exon1	c.G24A	p.M8I	MNLEGLEMIAVLIVIVLFVK	MNLEGLEIIAVLIVIVLFVK	1.0	4.0	unscreened	-	3713_4:21305506-21305506 C>T_MNLEGLEIIAVLIVIVLFVK
4:165961487-165961487 G>A	0.0	3713	MELANOMA	-	-	-	-	TRIM60	NM_001258025,p.R88K|ENST00000508504,p.R88K|uc010iqx.2,p.R88K|uc021xty.1,p.R88K|ENST00000341062,p.R88K|NM_152620,p.R88K|uc003iqy.1,p.R88K|ENST00000512596,p.R88K	protein_coding	uc021xty.1	nonsynonymous SNV	exon1	c.G263A	p.R88K	EIAKQLQIRRSKRKRQKENAMCEKH	EIAKQLQIRRSKKKRQKENAMCEKH	1.0	9.0	unscreened	-	3713_4:165961487-165961487 G>A_EIAKQLQIRRSKKKRQKENAMCEKH
15:51689739-51689739 G>A	0.0	3713	MELANOMA	-	-	-	-	GLDN	NM_181789,p.G254E|uc002abb.3,p.G130E|ENST00000335449,p.G254E|uc002aba.3,p.G254E|ENST00000558426,p.G140E|ENST00000396399,p.G130E	retained_intron, protein_coding	uc002abb.3	nonsynonymous SNV	exon6	c.G389A	p.G130E	GPPGPPGPPGPPGSRRAKGPRQPSM	GPPGPPGPPGPPESRRAKGPRQPSM	2.0	9.0	unscreened	-	3713_15:51689739-51689739 G>A_GPPGPPGPPGPPESRRAKGPRQPSM
1:207680157-207680157 G>A	0.0	3713	MELANOMA	-	-	-	-	CR1	uc021pij.1,p.G134R|uc009xcj.1,p.G134R|uc009xck.1,p.G134R|NM_000651,p.G134R|uc009xcl.1,p.G134R|ENST00000367049,p.G134R|ENST00000367051,p.G134R|ENST00000400960,p.G134R|NM_000573,p.G134R|ENST00000367052,p.G134R|uc001hfy.3,p.G134R|ENST00000534202,p.G134R|uc001hfx.3,p.G134R|ENST00000367053,p.G134R	retained_intron, protein_coding, processed_transcript	uc021pij.1	nonsynonymous SNV	exon3	c.G400A	p.G134R	QFGSQIKYSCTKGYRLIGSSSATCI	QFGSQIKYSCTKRYRLIGSSSATCI	3.0	3.0	unscreened	-	3713_1:207680157-207680157 G>A_QFGSQIKYSCTKRYRLIGSSSATCI
14:24884653-24884653 C>T	0.0	3713	MELANOMA	-	-	-	-	NYNRIN	ENST00000382554,p.S1233F|NM_025081,p.S1233F|uc001wpf.4,p.S1233F	protein_coding, processed_transcript	uc001wpf.4	nonsynonymous SNV	exon9	c.C3698T	p.S1233F	RCIGDTPVVLDLSYASRTTADPEVR	RCIGDTPVVLDLFYASRTTADPEVR	2.0	8.0	unscreened	-	3713_14:24884653-24884653 C>T_RCIGDTPVVLDLFYASRTTADPEVR
17:46607214-46607214 C>T	0.0	3713	MELANOMA	-	-	-	-	HOXB1	uc002ink.1,p.G201S|ENST00000239174,p.G201S|NM_002144,p.G201S	protein_coding	uc002ink.1	nonsynonymous SNV	exon2	c.G601A	p.G201S	PPKTAKVSEPGLGSPSGLRTNFTTR	PPKTAKVSEPGLSSPSGLRTNFTTR	1.0	2.0	unscreened	-	3713_17:46607214-46607214 C>T_PPKTAKVSEPGLSSPSGLRTNFTTR
3:164739081-164739081 C>T	0.0	3713	MELANOMA	-	-	-	-	SI	uc003fei.3,p.D1064N|ENST00000264382,p.D1064N|NM_001041,p.D1064N	retained_intron, protein_coding, nonsense_mediated_decay	uc003fei.3	nonsynonymous SNV	exon27	c.G3190A	p.D1064N	TTPISTYEDRLYDVEIKENPFGIQI	TTPISTYEDRLYNVEIKENPFGIQI	1.0	7.0	unscreened	-	3713_3:164739081-164739081 C>T_TTPISTYEDRLYNVEIKENPFGIQI
16:70694076-70694076 G>A	0.0	3713	MELANOMA	0.0014	-	-	-	IL34	NM_152456,p.G239S|uc002ezi.2,p.G238S|uc002ezh.2,p.G239S|NM_001172772,p.G239S|ENST00000429149,p.G239S|NM_001172771,p.G238S|uc021tkk.1,p.G239S|ENST00000288098,p.G239S|ENST00000566361,p.G214S	retained_intron, protein_coding, processed_transcript	uc021tkk.1	nonsynonymous SNV	exon7	c.G715A	p.G239S	TGSVRPVRAQGEGLLP	TGSVRPVRAQGESLLP	1.0	9.0	unscreened	-	3713_16:70694076-70694076 G>A_TGSVRPVRAQGESLLP
9:14720306-14720306 G>A	0.0	3713	MELANOMA	-	-	-	-	CER1	ENST00000380911,p.P196S|NM_005454,p.P196S|uc003zlj.3,p.P196S	protein_coding	uc003zlj.3	nonsynonymous SNV	exon2	c.C586T	p.P196S	NLCFGKCGSVHFPGAAQHSHTSCSH	NLCFGKCGSVHFSGAAQHSHTSCSH	1.0	2.0	unscreened	-	3713_9:14720306-14720306 G>A_NLCFGKCGSVHFSGAAQHSHTSCSH
9:137801667-137801667 C>T	0.0	3713	MELANOMA	-	-	-	-	FCN1	uc004cfi.3,p.E320K|NM_002003,p.E320K|ENST00000371806,p.E320K	protein_coding	uc004cfi.3	nonsynonymous SNV	exon9	c.G958A	p.E320K	AAKGYKYSYKVSEMKVRPA	AAKGYKYSYKVSKMKVRPA	4.0	3.0	unscreened	-	3713_9:137801667-137801667 C>T_AAKGYKYSYKVSKMKVRPA
6:42689659-42689659 C>T	0.0	3713	MELANOMA	-	-	-	-	PRPH2	NM_000322,p.M138I|uc003osk.3,p.M138I|ENST00000230381,p.M138I	protein_coding	uc003osk.3	nonsynonymous SNV	exon1	c.G414A	p.M138I	LENTLGQGLKNGMKYYRDTDTPGRC	LENTLGQGLKNGIKYYRDTDTPGRC	1.0	3.0	unscreened	-	3713_6:42689659-42689659 C>T_LENTLGQGLKNGIKYYRDTDTPGRC
10:37430655-37430655 C>T	0.0	3713	MELANOMA	-	-	-	-	ANKRD30A	uc021ppc.1,p.S221F|uc001iza.1,p.S221F|ENST00000602533,p.S221F|NM_052997,p.S221F|ENST00000361713,p.S221F|ENST00000374660,p.S221F	protein_coding, processed_transcript	uc021ppc.1	nonsynonymous SNV	exon7	c.C662T	p.S221F	SKNHQNTNPEGTSAGTPDEAAPLAE	SKNHQNTNPEGTFAGTPDEAAPLAE	1.0	7.0	unscreened	-	3713_10:37430655-37430655 C>T_SKNHQNTNPEGTFAGTPDEAAPLAE
3:166958637-166958637 C>T	0.0	3713	MELANOMA	-	-	-	-	ZBBX	uc003fep.3,p.E783K|ENST00000307529,p.E822K|ENST00000392767,p.E783K|uc003feq.3,p.E754K|NM_001199202,p.E754K|NM_024687,p.E783K|uc011bpc.2,p.E822K|ENST00000392764,p.E754K|NM_001199201,p.E822K|ENST00000392766,p.E783K|ENST00000455345,p.E822K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bpc.2	nonsynonymous SNV	exon22	c.G2464A	p.E822K	LSLSESSTDEEEEDFLNKQHVITLP	LSLSESSTDEEEKDFLNKQHVITLP	1.0	2.0	unscreened	-	3713_3:166958637-166958637 C>T_LSLSESSTDEEEKDFLNKQHVITLP
6:46657915-46657915 C>T	0.0	3713	MELANOMA	-	-	-	-	TDRD6	ENST00000316081,p.P684S|NM_001168359,p.P684S|uc010jze.3,p.P684S|NM_001010870,p.P684S|uc003oyj.3,p.P684S|ENST00000544460,p.P684S	protein_coding	uc010jze.3	nonsynonymous SNV	exon1	c.C2050T	p.P684S	ETKENILVNAHSPGHVSNHFTTESN	ETKENILVNAHSSGHVSNHFTTESN	1.0	7.0	unscreened	-	3713_6:46657915-46657915 C>T_ETKENILVNAHSSGHVSNHFTTESN
6:22294729-22294729 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1076443;OCCURENCE=1(endometrium)	-	PRL	uc003ndq.3,p.R38Q|uc003ndo.3,p.R39Q|NM_001163558,p.R38Q|uc003ndp.3,p.R38Q|ENST00000306482,p.R38Q|NM_000948,p.R38Q	protein_coding	uc003ndq.3	nonsynonymous SNV	exon3	c.G113A	p.R38Q	VAPLPICPGGAARCQVTLRDLFDRA	VAPLPICPGGAAQCQVTLRDLFDRA	1.0	7.0	unscreened	-	3713_6:22294729-22294729 C>T_VAPLPICPGGAAQCQVTLRDLFDRA
1:152777915-152777915 G>A	0.0	3713	MELANOMA	-	-	-	-	LCE1C	ENST00000368768,p.P14S|uc001fap.1,p.P14S|ENST00000607093,p.P14S|uc021ozi.1,p.P14S|NM_178351,p.P14S	protein_coding	uc021ozi.1	nonsynonymous SNV	exon1	c.C40T	p.P14S	SCQQSQQQCQPPPKCTPKCPPKCPT	SCQQSQQQCQPPSKCTPKCPPKCPT	1.0	1.0	unscreened	-	3713_1:152777915-152777915 G>A_SCQQSQQQCQPPSKCTPKCPPKCPT
17:39458541-39458541 C>T	0.0	3713	MELANOMA	-	-	-	-	KRTAP29-1	NM_001257309,p.G188E|uc031rai.1,p.G188E|ENST00000391353,p.G188E	protein_coding	uc031rai.1	nonsynonymous SNV	exon1	c.G563A	p.G188E	CTASPCQPTWCQGSSCQPVSGEGQP	CTASPCQPTWCQESSCQPVSGEGQP	2.0	2.0	unscreened	-	3713_17:39458541-39458541 C>T_CTASPCQPTWCQESSCQPVSGEGQP
2:179592929-179592929 T>C	0.0	3713	MELANOMA	-	-	-	-	TTN	ENST00000589042,p.N6541S|ENST00000342992,p.N5297S|uc021vsy.2,p.N5297S|uc031rqd.1,p.N6224S|uc031rqc.1,p.N6541S|NM_133378,p.N5297S|NM_001267550,p.N6541S|uc002umz.1,p.N1958S|ENST00000591111,p.N6224S|NM_001256850,p.N6224S	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon65	c.A18671G	p.N6224S	LVCHERSVSLEVNNLELEDTANYTC	LVCHERSVSLEVSNLELEDTANYTC	1.0	5.0	unscreened	-	3713_2:179592929-179592929 T>C_LVCHERSVSLEVSNLELEDTANYTC
20:43052769-43052769 G>A	0.0	3713	MELANOMA	-	-	-	-	HNF4A	uc002xly.4,p.G335E|NM_001287182,p.G310E|uc010ggq.4,p.G328E|NM_175914,p.G313E|NM_178850,p.G335E|NM_001287183,p.G310E|NM_001030004,p.G313E|uc002xma.4,p.G335E|uc002xlu.4,p.G313E|uc002xlt.3,p.G313E|ENST00000457232,p.G313E|NM_000457,p.G335E|NM_001030003,p.G313E|ENST00000415691,p.G335E|NM_001258355,p.G328E|uc002xlz.4,p.G335E|ENST00000443598,p.G335E|ENST00000316099,p.G335E|ENST00000316673,p.G313E|uc002xlv.4,p.G313E|NM_001287184,p.G310E|NM_178849,p.G335E	protein_coding, nonsense_mediated_decay	uc010ggq.4	nonsynonymous SNV	exon9	c.G983A	p.G328E	INDRQYDSRGRFGELLLLLPTLQSI	INDRQYDSRGRFEELLLLLPTLQSI	1.0	5.0	unscreened	-	3713_20:43052769-43052769 G>A_INDRQYDSRGRFEELLLLLPTLQSI
6:168440830-168440830 G>A	0.0	3713	MELANOMA	-	-	-	-	KIF25	NM_005355,p.D194N|ENST00000443060,p.D194N|uc003qwk.1,p.D194N|ENST00000351261,p.D194N|NM_030615,p.D194N|ENST00000354419,p.D194N|uc003qwl.1,p.D194N	retained_intron, protein_coding, processed_transcript	uc003qwl.1	nonsynonymous SNV	exon6	c.G580A	p.D194N	QLRAKHPTLVHADSSRSHLIITVTL	QLRAKHPTLVHANSSRSHLIITVTL	1.0	2.0	unscreened	-	3713_6:168440830-168440830 G>A_QLRAKHPTLVHANSSRSHLIITVTL
12:11034911-11034911 G>A	1.0	3713	MELANOMA	-	-	-	-	PRH1	ENST00000428168,p.P142S|uc021qvf.1,p.P142S|NM_001291315,p.P176S|uc031qgg.1,p.P163S|NM_001291314,p.P163S	protein_coding	uc031qgg.1	nonsynonymous SNV	exon6	c.C487T	p.P163S	QQGGHQQGPPPPPPGKPQGPPPQGG	QQGGHQQGPPPPSPGKPQGPPPQGG	1.0	9.0	unscreened	-	3713_12:11034911-11034911 G>A_QQGGHQQGPPPPSPGKPQGPPPQGG
12:90003784-90003784 A>G	1.0	3713	MELANOMA	-	-	-	-	ATP2B1	ENST00000359142,p.V791A|NM_001001323,p.V791A|ENST00000428670,p.V791A|NM_001682,p.V791A|ENST00000261173,p.V791A|uc001tbg.3,p.V791A|uc001tbf.3,p.V461A|uc001tbh.3,p.V791A|ENST00000348959,p.V791A|ENST00000393164,p.V534A	retained_intron, protein_coding	uc001tbh.3	nonsynonymous SNV	exon14	c.T2372C	p.V791A	GIIDSTVSDQRQVVAVTGDGTNDGP	GIIDSTVSDQRQAVAVTGDGTNDGP	5.0	5.0	-	-	3713_12:90003784-90003784 A>G_GIIDSTVSDQRQAVAVTGDGTNDGP
8:23112927-23112927 C>T	1.0	3713	MELANOMA	-	-	-	-	CHMP7	ENST00000519503,p.S156L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000519503	nonsynonymous SNV	exon2	c.C467T	p.S156L	CCSCRRRRGSQSSSRTGRRL	CCSCRRRRGSQSLSRTGRRL	8.0	4.0	unscreened	-	3713_8:23112927-23112927 C>T_CCSCRRRRGSQSLSRTGRRL
20:37267888-37267888 G>A	0.0	3713	MELANOMA	-	-	-	-	ARHGAP40	NM_001164431,p.E379K|ENST00000373345,p.E327K|uc021wdn.1,p.E379K	protein_coding	uc021wdn.1	nonsynonymous SNV	exon9	c.G1135A	p.E379K	SQARVKGLEQKLERDFYAGLFSWDE	SQARVKGLEQKLKRDFYAGLFSWDE	1.0	6.0	unscreened	-	3713_20:37267888-37267888 G>A_SQARVKGLEQKLKRDFYAGLFSWDE
1:158811946-158811946 G>A	0.0	3713	MELANOMA	-	-	-	-	MNDA	uc001fsz.1,p.M1I|ENST00000368141,p.M1I|NM_002432,p.M1I	protein_coding, processed_transcript	uc001fsz.1	nonsynonymous SNV	exon2	c.G3A	p.M1I	MVNEYKKILLLKG	IVNEYKKILLLKG	4.0	8.0	unscreened	-	3713_1:158811946-158811946 G>A_IVNEYKKILLLKG
22:29835128-29835128 G>A	0.0	3713	MELANOMA	-	-	-	-	RFPL1	NM_021026,p.M116I|uc003afn.3,p.M116I|ENST00000354373,p.M116I	protein_coding	uc003afn.3	nonsynonymous SNV	exon1	c.G348A	p.M116I	KELEPKLKKILQMNPRMRKFQVDMT	KELEPKLKKILQINPRMRKFQVDMT	1.0	3.0	unscreened	-	3713_22:29835128-29835128 G>A_KELEPKLKKILQINPRMRKFQVDMT
7:142612514-142612514 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1699488;OCCURENCE=1(skin)	-	TRPV5	ENST00000265310,p.G417R|uc003wby.1,p.G417R|NM_019841,p.G417R|ENST00000439304,p.G362R	protein_coding	uc003wby.1	nonsynonymous SNV	exon10	c.G1249A	p.G417R	PDIFRVGASRYFGKTILGGPFHVII	PDIFRVGASRYFRKTILGGPFHVII	1.0	6.0	unscreened	-	3713_7:142612514-142612514 C>T_PDIFRVGASRYFRKTILGGPFHVII
19:6903874-6903874 C>T	0.0	3713	MELANOMA	-	-	-	-	EMR1	ENST00000381407,p.P98S|NM_001974,p.P239S|uc010xji.3,p.P98S|uc002mfw.4,p.P239S|ENST00000250572,p.P239S|ENST00000312053,p.P239S|NM_001256253,p.P239S|NM_001256254,p.P98S|ENST00000381404,p.P187S|uc010dvb.4,p.P187S|uc010dvc.4,p.P239S|ENST00000595026,p.P205S|NM_001256252,p.P187S	retained_intron, protein_coding, processed_transcript	uc010xji.3	nonsynonymous SNV	exon4	c.C292T	p.P98S	EMCPINSTCTNTPGSYFCTCHPGFA	EMCPINSTCTNTSGSYFCTCHPGFA	1.0	8.0	-	-	3713_19:6903874-6903874 C>T_EMCPINSTCTNTSGSYFCTCHPGFA
19:8563704-8563704 G>A	0.0	3713	MELANOMA	-	-	-	-	PRAM1	uc002mkd.3,p.P330S|ENST00000255612,p.P330S|ENST00000423345,p.P330S|NM_032152,p.P330S	retained_intron, protein_coding	uc002mkd.3	nonsynonymous SNV	exon2	c.C988T	p.P330S	SKKPPQPELGGLPRTSSEPEFNSLP	SKKPPQPELGGLSRTSSEPEFNSLP	2.0	2.0	unscreened	-	3713_19:8563704-8563704 G>A_SKKPPQPELGGLSRTSSEPEFNSLP
12:33532858-33532858 C>T	0.0	3713	MELANOMA	-	-	-	-	SYT10	ENST00000228567,p.G470E|uc001rll.1,p.G470E|uc009zju.1,p.G280E|NM_198992,p.G470E|ENST00000535526,p.G289E	protein_coding, processed_transcript, nonsense_mediated_decay	uc009zju.1	nonsynonymous SNV	exon8	c.G839A	p.G280E	VGHNEVIGVCRTGLDAEGLGRDHWN	VGHNEVIGVCRTELDAEGLGRDHWN	1.0	4.0	unscreened	-	3713_12:33532858-33532858 C>T_VGHNEVIGVCRTELDAEGLGRDHWN
6:7576624-7576624 G>A	0.0	3713	MELANOMA	-	-	-	-	DSP	NM_001008844,p.D910N|ENST00000379802,p.D910N|NM_004415,p.D910N|uc003mxp.1,p.D910N|ENST00000418664,p.D910N|uc021yle.1,p.D910N|uc003mxq.1,p.D910N	retained_intron, protein_coding	uc021yle.1	nonsynonymous SNV	exon19	c.G2728A	p.D910N	FCKWLYDAKRRQDSLESMKFGDSNT	FCKWLYDAKRRQNSLESMKFGDSNT	1.0	2.0	unscreened	-	3713_6:7576624-7576624 G>A_FCKWLYDAKRRQNSLESMKFGDSNT
2:230456592-230456592 G>A	0.0	3713	MELANOMA	-	-	-	-	DNER	ENST00000341772,p.P97S|uc002vpv.3,p.P97S|NM_139072,p.P97S	protein_coding, processed_transcript	uc002vpv.3	nonsynonymous SNV	exon2	c.C289T	p.P97S	GISGANCQLVADPCASNPCHHGNCS	GISGANCQLVADSCASNPCHHGNCS	1.0	9.0	unscreened	-	3713_2:230456592-230456592 G>A_GISGANCQLVADSCASNPCHHGNCS
2:131221168-131221168 C>T	0.0	3713	MELANOMA	-	-	-	-	POTEI	NM_001277406,p.E817K|uc031rpa.1,p.E817K|ENST00000451531,p.E817K	protein_coding	uc031rpa.1	nonsynonymous SNV	exon15	c.G2449A	p.E817K	LTEAPLNPKANREKMTQIMFETFNT	LTEAPLNPKANRKKMTQIMFETFNT	1.0	3.0	unscreened	-	3713_2:131221168-131221168 C>T_LTEAPLNPKANRKKMTQIMFETFNT
5:95743987-95743987 G>A	0.0	3713	MELANOMA	-	-	-	-	PCSK1	ENST00000311106,p.T379I|uc003kls.2,p.T379I|ENST00000508626,p.T332I|uc021ybq.1,p.T332I|NM_000439,p.T379I|uc010jbi.2,p.T69I|NM_001177875,p.T332I	protein_coding, processed_transcript	uc021ybq.1	nonsynonymous SNV	exon9	c.C995T	p.T332I	SADLHNDCTETHTGTSASAPLAAGI	SADLHNDCTETHIGTSASAPLAAGI	1.0	8.0	unscreened	-	3713_5:95743987-95743987 G>A_SADLHNDCTETHIGTSASAPLAAGI
6:26234624-26234624 T>C	0.0	3713	MELANOMA	-	-	-	-	HIST1H1D	uc003nhd.3,p.T180A|NM_005320,p.T180A|ENST00000244534,p.T180A	protein_coding	uc003nhd.3	nonsynonymous SNV	exon1	c.A538G	p.T180A	TKKVAKSAKKVKTPQPKKAAKSPAK	TKKVAKSAKKVKAPQPKKAAKSPAK	1.0	9.0	unscreened	-	3713_6:26234624-26234624 T>C_TKKVAKSAKKVKAPQPKKAAKSPAK
2:228882985-228882985 G>A	0.0	3713	MELANOMA	-	-	-	-	SPHKAP	uc002vpp.2,p.S862F|uc002vpq.2,p.S862F|ENST00000392056,p.S862F|uc010zlx.1,p.S862F|ENST00000344657,p.S862F|NM_001142644,p.S862F|NM_030623,p.S862F	retained_intron, protein_coding	uc010zlx.1	nonsynonymous SNV	exon7	c.C2585T	p.S862F	ENECRASSEGQRSPTVSQSRSGSQE	ENECRASSEGQRFPTVSQSRSGSQE	1.0	4.0	unscreened	-	3713_2:228882985-228882985 G>A_ENECRASSEGQRFPTVSQSRSGSQE
3:167217983-167217983 C>T	0.0	3713	MELANOMA	-	-	-	-	WDR49	uc003fev.1,p.E645K|uc011bpd.1,p.E610K|ENST00000308378,p.E645K|uc003feu.1,p.E470K|ENST00000476376,p.E470K|NM_178824,p.E645K|ENST00000453925,p.E610K	protein_coding, nonsense_mediated_decay	uc011bpd.1	nonsynonymous SNV	exon13	c.G1828A	p.E610K	LDPEKYFRKEPEEERPQILEAPSLF	LDPEKYFRKEPEKERPQILEAPSLF	1.0	2.0	unscreened	-	3713_3:167217983-167217983 C>T_LDPEKYFRKEPEKERPQILEAPSLF
12:81013211-81013211 G>A	0.0	3713	MELANOMA	-	-	-	-	PTPRQ	ENST00000266688,p.G1756E	retained_intron, protein_coding, processed_transcript	ENST00000266688	nonsynonymous SNV	exon36	c.G5267A	p.G1756E	PKTKPTPIYDATGKLLVTSTTITIR	PKTKPTPIYDATEKLLVTSTTITIR	1.0	4.0	unscreened	-	3713_12:81013211-81013211 G>A_PKTKPTPIYDATEKLLVTSTTITIR
9:27228295-27228295 G>A	0.0	3713	MELANOMA	-	-	-	-	TEK	NM_000459,p.E1098K|ENST00000380036,p.E1098K|NM_001290078,p.E950K|ENST00000406359,p.E1055K|uc011lno.2,p.E1055K|uc011lnp.2,p.E950K|uc003zqi.4,p.E1098K|ENST00000519097,p.E950K|NM_001290077,p.E1055K	protein_coding, nonsense_mediated_decay	uc011lnp.2	nonsynonymous SNV	exon20	c.G2848A	p.E950K	AQILVSLNRMLEERKTYVNTTLYEK	AQILVSLNRMLEKRKTYVNTTLYEK	2.0	3.0	unscreened	-	3713_9:27228295-27228295 G>A_AQILVSLNRMLEKRKTYVNTTLYEK
21:34166342-34166342 C>T	0.0	3713	MELANOMA	-	-	-	-	C21orf62	NM_001162495,p.A131T|ENST00000490358,p.A131T|ENST00000382373,p.A178T|ENST00000536776,p.A131T|uc011adu.2,p.A131T|uc010glz.3,p.A131T|NM_019596,p.A131T|ENST00000479548,p.A131T|ENST00000487113,p.A131T|uc021wik.1,p.A131T|uc011adt.2,p.A131T|NM_001162496,p.A131T	protein_coding	uc021wik.1	nonsynonymous SNV	exon1	c.G391A	p.A131T	ICGLKRLRINMEAKHPFPEQSLLIH	ICGLKRLRINMETKHPFPEQSLLIH	1.0	7.0	unscreened	-	3713_21:34166342-34166342 C>T_ICGLKRLRINMETKHPFPEQSLLIH
5:140307184-140307184 C>T	0.0	3713	MELANOMA	-	-	-	-	PCDHAC1	uc003lih.2,p.S236F|NM_018898,p.S236F|ENST00000409700,p.S236F|NM_031882,p.S236F|uc003lig.1,p.S236F|ENST00000253807,p.S236F	protein_coding	uc003lih.2	nonsynonymous SNV	exon1	c.C707T	p.S236F	VDTNDNAPVFERSVYRTKVPETAPN	VDTNDNAPVFERFVYRTKVPETAPN	1.0	7.0	unscreened	-	3713_5:140307184-140307184 C>T_VDTNDNAPVFERFVYRTKVPETAPN
7:94898015-94898015 G>A	0.0	3713	MELANOMA	-	-	-	-	PPP1R9A	uc003unp.3,p.R918K|NM_001166163,p.R918K|NM_017650,p.R918K|ENST00000433881,p.R918K|uc011kig.2,p.R918K|ENST00000340694,p.R918K	protein_coding	uc011kig.2	nonsynonymous SNV	exon11	c.G2753A	p.R918K	SVSSTDGEDSLERKNFTFNDDFSPS	SVSSTDGEDSLEKKNFTFNDDFSPS	3.0	3.0	unscreened	-	3713_7:94898015-94898015 G>A_SVSSTDGEDSLEKKNFTFNDDFSPS
15:52513422-52513422 C>T	0.0	3713	MELANOMA	-	-	-	-	MYO5C	NM_018728,p.E1220K|ENST00000261839,p.E1220K|uc010bff.3,p.E1220K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bff.3	nonsynonymous SNV	exon30	c.G3658A	p.E1220K	NMMIPDFKQQISELEKQKQDLEIRL	NMMIPDFKQQISKLEKQKQDLEIRL	2.0	9.0	unscreened	-	3713_15:52513422-52513422 C>T_NMMIPDFKQQISKLEKQKQDLEIRL
6:74104827-74104827 G>A	0.0	3713	MELANOMA	-	-	-	-	DDX43	NM_018665,p.E67K|ENST00000370336,p.E67K|uc003pgw.3,p.E67K|ENST00000539829,p.E67K	retained_intron, protein_coding, processed_transcript	uc003pgw.3	nonsynonymous SNV	exon1	c.G199A	p.E67K	SRPPEAVAAGHEELPLCFALKSHFV	SRPPEAVAAGHEKLPLCFALKSHFV	3.0	7.0	-	-	3713_6:74104827-74104827 G>A_SRPPEAVAAGHEKLPLCFALKSHFV
16:70928410-70928410 C>T	0.0	3713	MELANOMA	-	-	-	-	HYDIN	ENST00000393567,p.E3064K|uc031qwy.1,p.E3064K|NM_001270974,p.E3064K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon55	c.G9190A	p.E3064K	EGGLDFGIVRVTEEAKQPLQLKNRG	EGGLDFGIVRVTKEAKQPLQLKNRG	1.0	7.0	unscreened	-	3713_16:70928410-70928410 C>T_EGGLDFGIVRVTKEAKQPLQLKNRG
18:56274611-56274611 A>T	0.0	3713	MELANOMA	-	-	-	-	ALPK2	ENST00000361673,p.I57N|uc002lhj.4,p.I57N|NM_052947,p.I57N	retained_intron, protein_coding, processed_transcript	uc002lhj.4	nonsynonymous SNV	exon3	c.T170A	p.I57N	WYKNGQAIDGSGIISNYEFFENQYI	WYKNGQAIDGSGNISNYEFFENQYI	1.0	8.0	-	-	3713_18:56274611-56274611 A>T_WYKNGQAIDGSGNISNYEFFENQYI
11:64665579-64665579 G>A	1.0	3713	MELANOMA	-	-	-	-	ATG2A	NM_015104,p.P1613S|uc001obx.3,p.P1613S|ENST00000377264,p.P1613S|uc001obw.3,p.P378S|ENST00000421419,p.P1615S	retained_intron, protein_coding	uc001obx.3	nonsynonymous SNV	exon34	c.C4837T	p.P1613S	FTSLVAGINPVVPGETSAEARPETR	FTSLVAGINPVVSGETSAEARPETR	6.0	5.0	-	-	3713_11:64665579-64665579 G>A_FTSLVAGINPVVSGETSAEARPETR
7:141843656-141843656 C>T	0.0	3713	MELANOMA	-	-	-	-	LOC93432	ENST00000477922,p.H469Y|NM_001293626,p.H469Y	retained_intron, protein_coding	NM_001293626	nonsynonymous SNV	exon13	c.C1405T	p.H469Y	EWWTDQVAKFHDHLEFDGVWIEMNE	EWWTDQVAKFHDYLEFDGVWIEMNE	1.0	5.0	unscreened	-	3713_7:141843656-141843656 C>T_EWWTDQVAKFHDYLEFDGVWIEMNE
12:85450669-85450669 G>A	0.0	3713	MELANOMA	-	-	-	-	LRRIQ1	uc021rbo.1,p.E578K|uc001taa.1,p.E675K|uc001tac.3,p.E700K|ENST00000393217,p.E700K|NM_001079910,p.E700K	retained_intron, protein_coding, nonsense_mediated_decay	uc021rbo.1	nonsynonymous SNV	exon4	c.G1732A	p.E578K	SNYNAESSMVSKEVNSLKSEIRNIS	SNYNAESSMVSKKVNSLKSEIRNIS	1.0	5.0	unscreened	-	3713_12:85450669-85450669 G>A_SNYNAESSMVSKKVNSLKSEIRNIS
8:119941025-119941025 C>T	1.0	3713	MELANOMA	-	-	ID=COSM1095407,COSM1154943;OCCURENCE=1(endometrium)	-	TNFRSF11B	NM_002546,p.D182N|ENST00000297350,p.D182N|uc003yon.4,p.D182N	retained_intron, protein_coding, nonsense_mediated_decay	uc003yon.4	nonsynonymous SNV	exon3	c.G544A	p.D182N	GLLLTQKGNATHDNICSGNSESTQK	GLLLTQKGNATHNNICSGNSESTQK	3.0	8.0	-	-	3713_8:119941025-119941025 C>T_GLLLTQKGNATHNNICSGNSESTQK
X:37027084-37027084 G>A	0.0	3713	MELANOMA	-	-	-	2	FAM47C	ENST00000358047,p.E201K|uc004ddl.2,p.E201K|NM_001013736,p.E201K	protein_coding	uc004ddl.2	nonsynonymous SNV	exon1	c.G601A	p.E201K	RPPETRVSCLPPEPPKTPVSSLRPE	RPPETRVSCLPPKPPKTPVSSLRPE	1.0	9.0	unscreened	-	3713_X:37027084-37027084 G>A_RPPETRVSCLPPKPPKTPVSSLRPE
17:10323542-10323542 C>T	0.0	3713	MELANOMA	-	-	-	-	MYH8	ENST00000403437,p.M1I|uc002gmm.2,p.M1I|NM_002472,p.M1I	protein_coding	uc002gmm.2	nonsynonymous SNV	exon3	c.G3A	p.M1I	MSASSDAEMAVFG	ISASSDAEMAVFG	1.0	8.0	unscreened	-	3713_17:10323542-10323542 C>T_ISASSDAEMAVFG
1:152777743-152777743 C>T	0.0	3713	MELANOMA	-	-	-	-	LCE1C	uc031ppd.1,p.G41E|uc021ozi.1,p.G71E|NM_001276331,p.G41E|ENST00000607093,p.G71E|ENST00000368768,p.G71E|ENST00000606576,p.G41E|uc001fap.1,p.G71E|NM_178351,p.G71E	protein_coding	uc031ppd.1	nonsynonymous SNV	exon3	c.G122A	p.G41E	SCGSSSGGCCSSGGGGCCLSHHRRR	SCGSSSGGCCSSEGGGCCLSHHRRR	1.0	8.0	unscreened	-	3713_1:152777743-152777743 C>T_SCGSSSGGCCSSEGGGCCLSHHRRR
2:215890443-215890443 G>A	0.0	3713	MELANOMA	-	-	-	-	ABCA12	NM_015657,p.S96F|NM_173076,p.S414F|ENST00000272895,p.S414F|uc002vev.3,p.S96F|uc002vew.3,p.S414F|ENST00000389661,p.S96F	protein_coding	uc002vew.3	nonsynonymous SNV	exon11	c.C1241T	p.S414F	TIRFKKSFLRNGSYEDYFPPVPEVL	TIRFKKSFLRNGFYEDYFPPVPEVL	1.0	6.0	unscreened	-	3713_2:215890443-215890443 G>A_TIRFKKSFLRNGFYEDYFPPVPEVL
7:138455911-138455911 C>T	0.0	3713	MELANOMA	-	-	-	-	ATP6V0A4	uc003vug.3,p.E28K|uc003vuh.3,p.E28K|ENST00000353492,p.E28K|NM_130841,p.E28K|ENST00000393054,p.E28K|NM_130840,p.E28K|uc003vuf.3,p.E28K|ENST00000310018,p.E28K|NM_020632,p.E28K	retained_intron, protein_coding, processed_transcript	uc003vuh.3	nonsynonymous SNV	exon2	c.G82A	p.E28K	FLQVEAAYCCVAELGELGLVQFKDL	FLQVEAAYCCVAKLGELGLVQFKDL	2.0	6.0	unscreened	-	3713_7:138455911-138455911 C>T_FLQVEAAYCCVAKLGELGLVQFKDL
16:55705784-55705784 C>T	0.0	3713	MELANOMA	-	-	-	-	SLC6A2	NM_001172502,p.T9I|ENST00000567238,p.T9I|uc002eii.3,p.T9I	protein_coding	uc002eii.3	nonsynonymous SNV	exon1	c.C26T	p.T9I	MGVQWWSHTQGEVAVGLGLGD	MGVQWWSHIQGEVAVGLGLGD	1.0	6.0	unscreened	-	3713_16:55705784-55705784 C>T_MGVQWWSHIQGEVAVGLGLGD
2:152319428-152319428 C>T	1.0	3713	MELANOMA	-	-	-	-	RIF1	uc002txm.3,p.P1132S|ENST00000444746,p.P1132S|NM_001177665,p.P1132S|uc002txn.3,p.P1132S|NM_001177664,p.P1132S|ENST00000430328,p.P1132S|NM_018151,p.P1132S|uc002txo.3,p.P1132S|ENST00000428287,p.P1132S|ENST00000453091,p.P1132S|NM_001177663,p.P1132S|ENST00000243326,p.P1132S|uc002txl.3,p.P1132S	protein_coding, processed_transcript, nonsense_mediated_decay	uc002txo.3	nonsynonymous SNV	exon29	c.C3394T	p.P1132S	ITEEQMDSDIVIPQDVTEDCGMAEH	ITEEQMDSDIVISQDVTEDCGMAEH	6.0	5.0	-	-	3713_2:152319428-152319428 C>T_ITEEQMDSDIVISQDVTEDCGMAEH
7:57528514-57528514 G>A	0.0	3713	MELANOMA	-	-	-	-	ZNF716	uc011kdi.1,p.G116E|NM_001159279,p.G116E|ENST00000420713,p.G116E	protein_coding	uc011kdi.1	nonsynonymous SNV	exon4	c.G347A	p.G116E	KDSLQKVILRRYGKCGQEDLQVKKC	KDSLQKVILRRYEKCGQEDLQVKKC	1.0	2.0	unscreened	-	3713_7:57528514-57528514 G>A_KDSLQKVILRRYEKCGQEDLQVKKC
6:127797145-127797145 C>T	0.0	3713	MELANOMA	-	-	-	-	SOGA3	NM_001012279,p.E676K|ENST00000465909,p.E676K|ENST00000368268,p.E676K|uc003qbd.3,p.E676K|ENST00000556132,p.E676K|ENST00000525778,p.E676K|ENST00000481848,p.E676K	processed_transcript,protein_coding, nonsense_mediated_decay	uc003qbd.3	nonsynonymous SNV	exon6	c.G2026A	p.E676K	ADLEEQNKRITAELNKYKYKSGGHD	ADLEEQNKRITAKLNKYKYKSGGHD	1.0	2.0	unscreened	-	3713_6:127797145-127797145 C>T_ADLEEQNKRITAKLNKYKYKSGGHD
6:100395693-100395693 C>T	0.0	3713	MELANOMA	-	-	-	-	MCHR2	ENST00000281806,p.D113N|NM_032503,p.D113N|ENST00000445970,p.D113N|uc003pqh.1,p.D113N|ENST00000369212,p.D113N|NM_001040179,p.D113N|uc003pqi.1,p.D113N	protein_coding	uc003pqi.1	nonsynonymous SNV	exon3	c.G337A	p.D113N	FGGPLCTIITSLDTCNQFACSAIMT	FGGPLCTIITSLNTCNQFACSAIMT	1.0	3.0	unscreened	-	3713_6:100395693-100395693 C>T_FGGPLCTIITSLNTCNQFACSAIMT
1:228003815-228003815 G>A	0.0	3713	MELANOMA	-	-	-	-	PRSS38	uc001hrh.3,p.G58E|NM_183062,p.G58E|ENST00000366757,p.G58E	protein_coding	uc001hrh.3	nonsynonymous SNV	exon2	c.G173A	p.G58E	TGSVACGRPSMEGKILGGVPAPERK	TGSVACGRPSMEEKILGGVPAPERK	1.0	8.0	unscreened	-	3713_1:228003815-228003815 G>A_TGSVACGRPSMEEKILGGVPAPERK
5:145252327-145252327 C>T	0.0	3713	MELANOMA	-	-	-	-	GRXCR2	NM_001080516,p.E69K|uc003lns.1,p.E69K|ENST00000377976,p.E69K	protein_coding	uc003lns.1	nonsynonymous SNV	exon1	c.G205A	p.E69K	SLETMDGVYGSGEVPRPQMCSPKLT	SLETMDGVYGSGKVPRPQMCSPKLT	1.0	8.0	unscreened	-	3713_5:145252327-145252327 C>T_SLETMDGVYGSGKVPRPQMCSPKLT
14:105070778-105070778 C>T	0.0	3713	MELANOMA	-	-	-	-	TMEM179	NM_001286390,p.E101K|ENST00000341595,p.E101K|NM_001286389,p.E101K|ENST00000556573,p.E101K|ENST00000415614,p.E101K|uc001yox.1,p.E101K	protein_coding	uc001yox.1	nonsynonymous SNV	exon1	c.G301A	p.E101K	AWRTLFFLCKGHEGSFFSAFLNLLV	AWRTLFFLCKGHKGSFFSAFLNLLV	1.0	4.0	unscreened	-	3713_14:105070778-105070778 C>T_AWRTLFFLCKGHKGSFFSAFLNLLV
4:87666149-87666149 G>A	1.0	3713	MELANOMA	-	-	-	1	PTPN13	uc003hpz.3,p.D840N|uc003hpy.3,p.D840N|ENST00000427191,p.D840N|uc003hqa.3,p.D840N|ENST00000436978,p.D840N|NM_080685,p.D840N|NM_080684,p.D840N|NM_080683,p.D840N|ENST00000511467,p.D840N|ENST00000316707,p.D840N|NM_006264,p.D840N|uc003hqb.3,p.D840N|ENST00000411767,p.D840N	retained_intron, protein_coding	uc003hqb.3	nonsynonymous SNV	exon17	c.G2518A	p.D840N	FSKKKITLQNTSDGIKHGFQTDNSK	FSKKKITLQNTSNGIKHGFQTDNSK	4.0	5.0	unscreened	-	3713_4:87666149-87666149 G>A_FSKKKITLQNTSNGIKHGFQTDNSK
8:53085012-53085012 C>T	0.0	3713	MELANOMA	-	-	-	-	ST18	uc003xra.2,p.E137K|ENST00000276480,p.E137K|uc003xrb.2,p.E137K|uc011lds.1,p.E42K|NM_014682,p.E137K|ENST00000521582,p.E137K|uc011ldr.1,p.E102K|ENST00000517580,p.E137K|uc003xqz.2,p.E137K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lds.1	nonsynonymous SNV	exon5	c.G124A	p.E42K	LMVKSLMHLGKFEKNVSVQTVSENL	LMVKSLMHLGKFKKNVSVQTVSENL	1.0	2.0	unscreened	-	3713_8:53085012-53085012 C>T_LMVKSLMHLGKFKKNVSVQTVSENL
6:119345242-119345242 C>T	0.0	3713	MELANOMA	-	-	-	-	FAM184A	ENST00000522284,p.R179Q|ENST00000352896,p.R179Q|ENST00000338891,p.R299Q|uc003pyl.4,p.R179Q|NM_001100411,p.R179Q|uc003pyj.3,p.R299Q|ENST00000521531,p.R299Q|NM_001288576,p.R179Q|NM_024581,p.R299Q|ENST00000368475,p.R179Q|uc003pyk.4,p.R179Q	retained_intron, protein_coding, nonsense_mediated_decay	uc003pyl.4	nonsynonymous SNV	exon2	c.G536A	p.R179Q	LRKEFQGQEAILRKTIGKLKTELQM	LRKEFQGQEAILQKTIGKLKTELQM	2.0	6.0	unscreened	-	3713_6:119345242-119345242 C>T_LRKEFQGQEAILQKTIGKLKTELQM
18:66564474-66564474 G>A	1.0	3713	MELANOMA	0.01	-	-	-	CCDC102B	NM_001093729,p.E358K|uc002lkj.1,p.E358K|ENST00000319445,p.E358K|uc002lki.2,p.E358K|ENST00000358653,p.E358K|NM_024781,p.E358K|ENST00000360242,p.E358K|uc002lkk.2,p.E358K|ENST00000584156,p.E358K	retained_intron, protein_coding, processed_transcript	uc002lkk.2	nonsynonymous SNV	exon8	c.G1072A	p.E358K	CELRAELERLQAENTSEWDKREILE	CELRAELERLQAKNTSEWDKREILE	4.0	4.0	unscreened	-	3713_18:66564474-66564474 G>A_CELRAELERLQAKNTSEWDKREILE
2:160672008-160672008 C>T	0.0	3713	MELANOMA	-	-	-	-	LY75,LY75-CD302	NM_002349,p.G1486E|NM_001198759,p.G1486E|ENST00000263636,p.G1486E|ENST00000504764,p.G1486E|uc010fos.3,p.G1486E|ENST00000505052,p.G1486E|ENST00000553424,p.G1486E|ENST00000554112,p.G1486E|uc002ubb.4,p.G1486E|uc002ubc.4,p.G1486E|NM_001198760,p.G1486E	retained_intron, protein_coding, processed_transcript	uc010fos.3	nonsynonymous SNV	exon31	c.G4457A	p.G1486E	FDYIPWKGQTSPGNCVLLDPKGTWK	FDYIPWKGQTSPENCVLLDPKGTWK	3.0	4.0	unscreened	-	3713_2:160672008-160672008 C>T_FDYIPWKGQTSPENCVLLDPKGTWK
14:93650085-93650085 A>C	1.0	3713	MELANOMA	-	-	-	-	MOAP1	uc021saw.1,p.F168C|NM_022151,p.F168C|uc001ybj.3,p.F168C|ENST00000298894,p.F168C|ENST00000556883,p.F168C	protein_coding	uc021saw.1	nonsynonymous SNV	exon1	c.T503G	p.F168C	ALQCLKYKKLRVFSGRESPEPGEEE	ALQCLKYKKLRVCSGRESPEPGEEE	8.0	2.0	-	-	3713_14:93650085-93650085 A>C_ALQCLKYKKLRVCSGRESPEPGEEE
11:85593632-85593632 G>A	0.0	3713	MELANOMA	-	-	-	-	CCDC83	ENST00000342404,p.G86E|uc001pbj.1,p.G43E|uc001pbg.1,p.G86E|uc001pbh.1,p.G86E|NM_173556,p.G86E|ENST00000280245,p.G86E|NM_001286159,p.G86E|ENST00000376067,p.G43E	protein_coding, processed_transcript	uc001pbj.1	nonsynonymous SNV	exon2	c.G128A	p.G43E	HLLKELSEEKAEGLPVVTREDVEEA	HLLKELSEEKAEELPVVTREDVEEA	1.0	8.0	unscreened	-	3713_11:85593632-85593632 G>A_HLLKELSEEKAEELPVVTREDVEEA
8:1575036-1575036 G>A	0.0	3713	MELANOMA	-	-	-	-	DLGAP2	NM_004745,p.A445T|uc003wpm.4,p.A445T|NM_001277161,p.A445T|uc003wpl.4,p.A445T|ENST00000421627,p.A445T	retained_intron, protein_coding, processed_transcript	uc003wpm.4	nonsynonymous SNV	exon4	c.G1333A	p.A445T	QSYMRAVSTLSQASCVSQVSEAEIN	QSYMRAVSTLSQTSCVSQVSEAEIN	1.0	4.0	unscreened	-	3713_8:1575036-1575036 G>A_QSYMRAVSTLSQTSCVSQVSEAEIN
6:125584094-125584094 G>A	0.0	3713	MELANOMA	-	-	-	-	TPD52L1	ENST00000532429,p.E172K|NM_001003395,p.E172K|uc003pzy.1,p.E172K|NM_001300994,p.E188K|ENST00000304877,p.E206K|ENST00000534000,p.E201K|ENST00000527711,p.E188K|uc003pzu.1,p.E201K|NM_003287,p.E201K	retained_intron, protein_coding, processed_transcript	uc003pzy.1	nonsynonymous SNV	exon7	c.G514A	p.E172K	SLAGGSRRTKEEELQC	SLAGGSRRTKEEKLQC	1.0	2.0	unscreened	-	3713_6:125584094-125584094 G>A_SLAGGSRRTKEEKLQC
16:83065641-83065641 G>A	0.0	3713	MELANOMA	-	-	-	-	CDH13	ENST00000446376,p.D62N|NM_001220491,p.D62N|NM_001220489,p.D62N|uc010vnu.2,p.D62N|NM_001257,p.D62N|ENST00000566620,p.D62N|NM_001220488,p.D109N|ENST00000431540,p.D62N|NM_001220492,p.D62N|uc002fgx.3,p.D62N|uc010chh.3,p.D62N|ENST00000565636,p.D62N|ENST00000428848,p.D62N|ENST00000268613,p.D109N|uc010vns.2,p.D109N|uc021tlw.1,p.D62N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tlw.1	nonsynonymous SNV	exon3	c.G184A	p.D62N	ILNLTFSDCKGNDKLRYEVSSPYFK	ILNLTFSDCKGNNKLRYEVSSPYFK	3.0	2.0	-	-	3713_16:83065641-83065641 G>A_ILNLTFSDCKGNNKLRYEVSSPYFK
1:218607538-218607538 G>A	0.0	3713	MELANOMA	-	-	-	-	TGFB2	uc001hlm.3,p.E209K|uc001hln.3,p.E237K|NM_003238,p.E209K|NM_001135599,p.E237K|ENST00000366930,p.E209K|ENST00000366929,p.E237K	protein_coding, processed_transcript	uc001hln.3	nonsynonymous SNV	exon4	c.G709A	p.E237K	EWLSFDVTDAVHEWLHHKDRNLGFK	EWLSFDVTDAVHKWLHHKDRNLGFK	1.0	5.0	unscreened	-	3713_1:218607538-218607538 G>A_EWLSFDVTDAVHKWLHHKDRNLGFK
8:39624447-39624447 G>A	0.0	3713	MELANOMA	-	-	-	-	ADAM2	NM_001278113,p.P457L|uc003xnk.4,p.P457L|uc003xnl.4,p.P350L|ENST00000379853,p.P350L|uc003xnj.4,p.P476L|ENST00000521880,p.P476L|ENST00000265708,p.P476L|ENST00000347580,p.P457L|NM_001464,p.P476L|NM_001278114,p.P476L|uc011lck.3,p.P476L	protein_coding, processed_transcript	uc011lck.3	nonsynonymous SNV	exon14	c.C1427T	p.P476L	SCPENHYVQTGHPCGLNQWICIDGV	SCPENHYVQTGHLCGLNQWICIDGV	1.0	4.0	unscreened	-	3713_8:39624447-39624447 G>A_SCPENHYVQTGHLCGLNQWICIDGV
5:161524719-161524719 C>T	0.0	3713	MELANOMA	-	-	-	-	GABRG2	ENST00000393933,p.L40F|NM_198903,p.L135F|ENST00000356592,p.L135F|uc010jjc.3,p.L135F|uc003lyy.4,p.L135F|uc011dej.2,p.L40F|NM_000816,p.L135F|ENST00000414552,p.L135F|ENST00000361925,p.L135F|NM_198904,p.L135F|uc003lyz.4,p.L135F|ENST00000522053,p.L40F	protein_coding, nonsense_mediated_decay	uc011dej.2	nonsynonymous SNV	exon5	c.C118T	p.L40F	DRRLKFNSTIKVLRLNSNMVGKIWI	DRRLKFNSTIKVFRLNSNMVGKIWI	1.0	7.0	unscreened	-	3713_5:161524719-161524719 C>T_DRRLKFNSTIKVFRLNSNMVGKIWI
8:77768521-77768521 C>T	0.0	3713	MELANOMA	-	-	ID=COSM229756;OCCURENCE=1(skin)	-	ZFHX4	uc003yaw.1,p.P3077S	retained_intron, protein_coding, nonsense_mediated_decay	uc003yaw.1	nonsynonymous SNV	exon9	c.C9229T	p.P3077S	PGMNGPSSLPGFPQNSNSKS	PGMNGPSSLPGFSQNSNSKS	1.0	9.0	unscreened	-	3713_8:77768521-77768521 C>T_PGMNGPSSLPGFSQNSNSKS
2:179634814-179634814 C>T	0.0	3713	MELANOMA	-	-	-	-	TTN	NM_133437,p.E2826K|uc002unb.3,p.E2872K|uc021vta.2,p.E2826K|ENST00000591111,p.E2872K|ENST00000360870,p.E2872K|NM_133432,p.E2826K|ENST00000460472,p.E2826K|uc021vsz.2,p.E2826K|uc021vsy.2,p.E2872K|NM_003319,p.E2826K|NM_133379,p.E2872K|NM_001267550,p.E2872K|ENST00000342175,p.E2826K|ENST00000359218,p.E2826K|NM_001256850,p.E2872K|ENST00000589042,p.E2872K|uc031rqc.1,p.E2872K|ENST00000342992,p.E2872K|uc031rqd.1,p.E2872K|NM_133378,p.E2872K|uc021vtb.2,p.E2826K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon36	c.G8614A	p.E2872K	DAGEYTAVVGQLECKAKLFVETLHI	DAGEYTAVVGQLKCKAKLFVETLHI	1.0	8.0	unscreened	-	3713_2:179634814-179634814 C>T_DAGEYTAVVGQLKCKAKLFVETLHI
1:147230467-147230467 C>T	0.0	3713	MELANOMA	-	-	-	-	GJA5	ENST00000369237,p.D294N|NM_181703,p.D294N|uc001ept.1,p.D294N|NM_005266,p.D294N|uc021ovl.1,p.D294N|uc001eps.1,p.D294N|ENST00000271348,p.D294N	protein_coding	uc021ovl.1	nonsynonymous SNV	exon1	c.G880A	p.D294N	PFSNNMASQQNTDNLVTEQVRGQEQ	PFSNNMASQQNTNNLVTEQVRGQEQ	5.0	4.0	unscreened	-	3713_1:147230467-147230467 C>T_PFSNNMASQQNTNNLVTEQVRGQEQ
1:152059004-152059004 G>A	0.0	3713	MELANOMA	-	-	-	-	TCHHL1	NM_001008536,p.S385F|ENST00000368806,p.S385F|uc001ezo.1,p.S385F	protein_coding	uc001ezo.1	nonsynonymous SNV	exon3	c.C1154T	p.S385F	PVQYGSRNGSETSDMRDERKERRGP	PVQYGSRNGSETFDMRDERKERRGP	1.0	2.0	unscreened	-	3713_1:152059004-152059004 G>A_PVQYGSRNGSETFDMRDERKERRGP
10:96014769-96014769 T>C	0.0	3713	MELANOMA	-	-	-	-	PLCE1	NM_001165979,p.S865P|ENST00000260766,p.S1173P|uc001kjm.3,p.S865P|ENST00000371385,p.S865P|uc001kjk.3,p.S1173P|NM_016341,p.S1173P|ENST00000371380,p.S1173P|ENST00000371375,p.S865P	protein_coding, processed_transcript	uc001kjm.3	nonsynonymous SNV	exon10	c.T2593C	p.S865P	AAGTSSPIRPVSSPVLSSSNKSPSS	AAGTSSPIRPVSPPVLSSSNKSPSS	3.0	3.0	unscreened	-	3713_10:96014769-96014769 T>C_AAGTSSPIRPVSPPVLSSSNKSPSS
1:12835257-12835257 G>A	0.0	3713	MELANOMA	-	-	-	-	PRAMEF12	uc001aui.3,p.E83K|ENST00000357726,p.E83K|NM_001080830,p.E83K	protein_coding	uc001aui.3	nonsynonymous SNV	exon1	c.G247A	p.E83K	KSCNLEIFRAVLEGLDALLAQKVRP	KSCNLEIFRAVLKGLDALLAQKVRP	1.0	4.0	unscreened	-	3713_1:12835257-12835257 G>A_KSCNLEIFRAVLKGLDALLAQKVRP
15:52537595-52537595 C>T	0.0	3713	MELANOMA	-	-	-	-	MYO5C	ENST00000261839,p.D712N|uc010bff.3,p.D712N|NM_018728,p.D712N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bff.3	nonsynonymous SNV	exon18	c.G2134A	p.D712N	GILMTKQELSFSDKKEVCKVVLHRL	GILMTKQELSFSNKKEVCKVVLHRL	2.0	2.0	unscreened	-	3713_15:52537595-52537595 C>T_GILMTKQELSFSNKKEVCKVVLHRL
6:71011710-71011710 G>A	0.0	3713	MELANOMA	-	-	-	-	COL9A1	ENST00000357250,p.R28C|NM_001851,p.R28C|uc003pfg.4,p.R28C|ENST00000370496,p.R28C	retained_intron, protein_coding, processed_transcript	uc003pfg.4	nonsynonymous SNV	exon2	c.C82T	p.R28C	FLEPWASAAVKRRPRFPVNSNSNGG	FLEPWASAAVKRCPRFPVNSNSNGG	1.0	2.0	unscreened	-	3713_6:71011710-71011710 G>A_FLEPWASAAVKRCPRFPVNSNSNGG
1:157769875-157769875 C>T	0.0	3713	MELANOMA	-	-	ID=COSM244486;OCCURENCE=1(prostate)	-	FCRL1	ENST00000491942,p.G335E|uc001frg.3,p.G335E|NM_001159398,p.G335E|ENST00000368176,p.G335E|NM_052938,p.G335E|uc001frh.3,p.G335E	protein_coding, processed_transcript	uc001frh.3	nonsynonymous SNV	exon7	c.G1004A	p.G335E	ALLFCYGLKRKIGRRSARDPLRSLP	ALLFCYGLKRKIERRSARDPLRSLP	3.0	2.0	unscreened	-	3713_1:157769875-157769875 C>T_ALLFCYGLKRKIERRSARDPLRSLP
8:2857630-2857630 G>A	0.0	3713	MELANOMA	-	-	-	-	CSMD1	ENST00000400186,p.P2628S|ENST00000602723,p.P2628S|uc010lrg.3,p.P696S|ENST00000542608,p.P2627S	retained_intron, protein_coding, processed_transcript	uc010lrg.3	nonsynonymous SNV	exon17	c.C2086T	p.P696S	PSCRAGHCGSPDPIVNGHISGDGFS	PSCRAGHCGSPDSIVNGHISGDGFS	1.0	2.0	unscreened	-	3713_8:2857630-2857630 G>A_PSCRAGHCGSPDSIVNGHISGDGFS
7:11446679-11446679 T>G	0.0	3713	MELANOMA	-	-	-	-	THSD7A	uc021zzo.1,p.K1307T|ENST00000423059,p.K1307T|NM_015204,p.K1307T	retained_intron, protein_coding, processed_transcript	uc021zzo.1	nonsynonymous SNV	exon21	c.A3920C	p.K1307T	WSECSQTCGLTGKMIRRRTVTQPFQ	WSECSQTCGLTGTMIRRRTVTQPFQ	1.0	5.0	unscreened	-	3713_7:11446679-11446679 T>G_WSECSQTCGLTGTMIRRRTVTQPFQ
1:158323824-158323824 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1718360;OCCURENCE=2(NS)	-	CD1E	ENST00000368154,p.E16K|uc001fsa.3,p.E16K|uc001fsc.3,p.E16K|uc010pig.2,p.E16K|ENST00000452291,p.E16K|ENST00000368164,p.E16K|NM_001185113,p.E16K|uc031pqs.1,p.E16K|NM_001185112,p.E16K|ENST00000368157,p.E16K|uc001fsg.3,p.E16K|NM_001185110,p.E16K|uc001fsh.3,p.E16K|NM_001042587,p.E16K|NM_001042586,p.E16K|ENST00000368166,p.E16K	protein_coding, processed_transcript	uc031pqs.1	nonsynonymous SNV	exon1	c.G46A	p.E16K	LFLLFEGLCCPGENTAVKPEAWLSC	LFLLFEGLCCPGKNTAVKPEAWLSC	1.0	8.0	unscreened	-	3713_1:158323824-158323824 G>A_LFLLFEGLCCPGKNTAVKPEAWLSC
12:8689856-8689856 A>G	0.0	3713	MELANOMA	-	-	-	-	CLEC4E	ENST00000299663,p.V76A|NM_014358,p.V76A|uc001quo.1,p.V76A	retained_intron, protein_coding, nonsense_mediated_decay	uc001quo.1	nonsynonymous SNV	exon4	c.T227C	p.V76A	TELSCYNYGSGSVKNCCPLNWEYFQ	TELSCYNYGSGSAKNCCPLNWEYFQ	3.0	6.0	unscreened	-	3713_12:8689856-8689856 A>G_TELSCYNYGSGSAKNCCPLNWEYFQ
7:127252031-127252031 G>A	0.0	3713	MELANOMA	-	-	-	-	PAX4	uc003vmg.1,p.P239S|uc010lld.1,p.P239S|ENST00000378740,p.P239S|ENST00000463946,p.P237S|uc003vmf.2,p.P237S|NM_006193,p.P239S|ENST00000341640,p.P239S	retained_intron, protein_coding	uc010lld.1	nonsynonymous SNV	exon7	c.C715T	p.P239S	MQLPGASQGLTVPRVAPGIISAQQS	MQLPGASQGLTVSRVAPGIISAQQS	1.0	3.0	unscreened	-	3713_7:127252031-127252031 G>A_MQLPGASQGLTVSRVAPGIISAQQS
3:18436307-18436307 G>A	0.0	3713	MELANOMA	-	-	-	-	SATB1	ENST00000454909,p.P285S|NM_001195470,p.P285S|uc003cbj.3,p.P285S|uc003cbh.3,p.P285S|NM_001131010,p.P285S|ENST00000417717,p.P285S|ENST00000338745,p.P285S|NM_002971,p.P285S|uc003cbi.3,p.P285S	retained_intron, protein_coding	uc003cbj.3	nonsynonymous SNV	exon7	c.C853T	p.P285S	PVPGNTAEQPPSPAQLSHGSQPSVR	PVPGNTAEQPPSSAQLSHGSQPSVR	4.0	7.0	unscreened	-	3713_3:18436307-18436307 G>A_PVPGNTAEQPPSSAQLSHGSQPSVR
20:40911144-40911144 G>A	0.0	3713	MELANOMA	-	-	ID=COSM3405085,COSM2156344;OCCURENCE=2(central_nervous_system)	1	PTPRT	ENST00000373198,p.R721C|ENST00000356100,p.R721C|uc010ggj.3,p.R721C|NM_133170,p.R721C	protein_coding, processed_transcript	uc010ggj.3	nonsynonymous SNV	exon13	c.C2161T	p.R721C	SKANGETKINCVRLATKAPMGSAQV	SKANGETKINCVCLATKAPMGSAQV	1.0	6.0	unscreened	-	3713_20:40911144-40911144 G>A_SKANGETKINCVCLATKAPMGSAQV
20:40911144-40911144 G>A	0.0	3713	MELANOMA	-	-	ID=COSM3405085,COSM2156344;OCCURENCE=2(central_nervous_system)	1	PTPRT	uc002xkg.3,p.R721C|ENST00000373190,p.R721C|ENST00000373201,p.R721C|ENST00000373187,p.R721C|ENST00000373184,p.R721C|NM_007050,p.R721C|ENST00000373193,p.R721C	protein_coding, processed_transcript	uc002xkg.3	nonsynonymous SNV	exon13	c.C2161T	p.R721C	SKANGETKINCVRLATKGASTQNSN	SKANGETKINCVCLATKGASTQNSN	1.0	6.0	unscreened	-	3713_20:40911144-40911144 G>A_SKANGETKINCVCLATKGASTQNSN
11:130078373-130078373 G>A	0.0	3713	MELANOMA	-	-	-	-	ST14	uc001qfw.3,p.G688E|ENST00000278742,p.G688E|NM_021978,p.G688E	retained_intron, protein_coding	uc001qfw.3	nonsynonymous SNV	exon17	c.G2063A	p.G688E	LGLHDQSQRSAPGVQERRLKRIISH	LGLHDQSQRSAPEVQERRLKRIISH	4.0	8.0	unscreened	-	3713_11:130078373-130078373 G>A_LGLHDQSQRSAPEVQERRLKRIISH
3:108179190-108179190 C>T	1.0	3713	MELANOMA	-	-	-	-	MYH15	ENST00000273353,p.R650Q|NM_014981,p.R650Q|uc003dxa.1,p.R650Q	retained_intron, protein_coding, processed_transcript	uc003dxa.1	nonsynonymous SNV	exon18	c.G1949A	p.R650Q	STDSAIPFGEKKRKKGASFQTVASL	STDSAIPFGEKKQKKGASFQTVASL	1.0	8.0	unscreened	-	3713_3:108179190-108179190 C>T_STDSAIPFGEKKQKKGASFQTVASL
3:36545914-36545914 G>A	1.0	3713	MELANOMA	-	-	-	-	STAC	NM_001292049,p.D205N|ENST00000434649,p.D194N|uc003cgh.1,p.D266N|ENST00000273183,p.D266N|NM_003149,p.D266N|ENST00000457375,p.D205N|uc011aya.1,p.D205N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011aya.1	nonsynonymous SNV	exon5	c.G613A	p.D205N	NSVFTYPENGTDDFRDPAKNINHQG	NSVFTYPENGTDNFRDPAKNINHQG	1.0	8.0	unscreened	-	3713_3:36545914-36545914 G>A_NSVFTYPENGTDNFRDPAKNINHQG
9:130507204-130507204 G>A	0.0	3713	MELANOMA	-	-	-	-	SH2D3C	uc011mak.2,p.P126L|ENST00000373277,p.P323L|uc004bsb.3,p.P412L|uc004brz.4,p.P126L|NM_001142534,p.P320L|ENST00000420366,p.P322L|uc004bry.3,p.P322L|NM_170600,p.P480L|NM_005489,p.P323L|uc004bsc.3,p.P480L|ENST00000429553,p.P126L|NM_001142531,p.P126L|uc010mxo.3,p.P320L|ENST00000373274,p.P320L|ENST00000373276,p.P412L|NM_001142532,p.P126L|ENST00000314830,p.P480L|NM_001252334,p.P412L|uc004bsa.3,p.P323L|NM_001142533,p.P322L	protein_coding, processed_transcript	uc011mak.2	nonsynonymous SNV	exon6	c.C377T	p.P126L	HTSPSHTLGKASPSPSLSSYSDPDS	HTSPSHTLGKASLSPSLSSYSDPDS	4.0	6.0	unscreened	-	3713_9:130507204-130507204 G>A_HTSPSHTLGKASLSPSLSSYSDPDS
15:34354974-34354974 A>G	0.0	3713	MELANOMA	-	-	-	-	CHRM5	uc001zhl.1,p.H19R|ENST00000557872,p.H19R|uc021sir.1,p.H19R|NM_012125,p.H19R|uc001zhk.1,p.H19R|ENST00000383263,p.H19R	protein_coding	uc021sir.1	nonsynonymous SNV	exon1	c.A56G	p.H19R	HNATTVNGTPVNHQPLERHRLWEVI	HNATTVNGTPVNRQPLERHRLWEVI	1.0	8.0	unscreened	-	3713_15:34354974-34354974 A>G_HNATTVNGTPVNRQPLERHRLWEVI
12:43822227-43822227 C>T	0.0	3713	MELANOMA	-	-	-	-	ADAMTS20	ENST00000553158,p.M1254I|uc010skx.2,p.M1254I|NM_025003,p.M1254I|ENST00000389420,p.M1254I|ENST00000395541,p.M372I|ENST00000549670,p.M384I|uc001rno.1,p.M372I|uc001rnp.1,p.M408I	protein_coding	uc010skx.2	nonsynonymous SNV	exon26	c.G3762A	p.M1254I	DENYCDPEVRPLMEQECSLAACPPA	DENYCDPEVRPLIEQECSLAACPPA	1.0	3.0	unscreened	-	3713_12:43822227-43822227 C>T_DENYCDPEVRPLIEQECSLAACPPA
2:228855876-228855876 C>T	0.0	3713	MELANOMA	-	-	-	-	SPHKAP	NM_001142644,p.G1600E|uc002vpq.2,p.G1600E|NM_030623,p.G1571E|ENST00000392056,p.G1600E|ENST00000344657,p.G1571E|uc002vpp.2,p.G1571E	retained_intron, protein_coding	uc002vpq.2	nonsynonymous SNV	exon11	c.G4799A	p.G1600E	ESTEAPASGPPTGTASPQRSLLVIN	ESTEAPASGPPTETASPQRSLLVIN	1.0	4.0	unscreened	-	3713_2:228855876-228855876 C>T_ESTEAPASGPPTETASPQRSLLVIN
3:54952806-54952806 C>T	0.0	3713	MELANOMA	-	-	-	-	LRTM1	ENST00000273286,p.V240M|NM_020678,p.V240M|uc003dhl.3,p.V240M|ENST00000493075,p.V164M	protein_coding	uc003dhl.3	nonsynonymous SNV	exon3	c.G718A	p.V240M	LYQPCPLPAPDPVSSQAQWPGSAHG	LYQPCPLPAPDPMSSQAQWPGSAHG	1.0	2.0	unscreened	-	3713_3:54952806-54952806 C>T_LYQPCPLPAPDPMSSQAQWPGSAHG
7:44179994-44179994 C>T	0.0	3713	MELANOMA	-	-	-	-	MYL7	ENST00000447951,p.A105T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000447951	nonsynonymous SNV	exon3	c.G313A	p.A105T	PGKVSVPEEELDAMLQEGKGPINFT	PGKVSVPEEELDTMLQEGKGPINFT	1.0	2.0	unscreened	-	3713_7:44179994-44179994 C>T_PGKVSVPEEELDTMLQEGKGPINFT
7:44179994-44179994 C>T	0.0	3713	MELANOMA	-	-	-	-	MYL7	NM_021223,p.A76T|uc003tkg.3,p.A76T|ENST00000223364,p.A76T|ENST00000457314,p.A98T|ENST00000458240,p.A49T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003tkg.3	nonsynonymous SNV	exon4	c.G226A	p.A76T	LGKVSVPEEELDAMLQEGKGPINFT	LGKVSVPEEELDTMLQEGKGPINFT	1.0	2.0	unscreened	-	3713_7:44179994-44179994 C>T_LGKVSVPEEELDTMLQEGKGPINFT
15:58254226-58254226 C>T	0.0	3713	MELANOMA	-	-	-	-	ALDH1A2	ENST00000558231,p.R383Q|uc002aew.3,p.R316Q|NM_001206897,p.R391Q|NM_170696,p.R374Q|uc010ugv.2,p.R391Q|NM_170697,p.R316Q|ENST00000559517,p.R316Q|ENST00000537372,p.R391Q|ENST00000347587,p.R374Q|ENST00000249750,p.R412Q|NM_003888,p.R412Q|uc002aex.3,p.R412Q|uc010ugw.2,p.R383Q|uc002aey.3,p.R374Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ugw.2	nonsynonymous SNV	exon10	c.G1148A	p.R383Q	EPTVFSNVTDDMRIAKEEIFGPVQE	EPTVFSNVTDDMQIAKEEIFGPVQE	1.0	4.0	unscreened	-	3713_15:58254226-58254226 C>T_EPTVFSNVTDDMQIAKEEIFGPVQE
4:955581-955613 TTCTGCAGCCCCACCCGCACGTACACACCCTTG>-	0.0	3713	MELANOMA	-	-	-	-	DGKQ	uc003gbw.4,p.775_786del|ENST00000273814,p.775_786del|uc010ibn.4,p.762_773del|NM_001347,p.775_786del	protein_coding, processed_transcript	uc010ibn.4	nonframeshift deletion	exon19	c.2286_2318del	p.762_773del	EEEPGKFTSRLHNKGVYVRVGLQKI	EEEPGKFTSRLHKISHSRSLHKQIR	5.0	3.0	unscreened	-	3713_4:955581-955613 TTCTGCAGCCCCACCCGCACGTACACACCCTTG>-_EEEPGKFTSRLHKISHSRSLHKQIR
2:179517024-179517024 G>A	0.0	3713	MELANOMA	-	-	-	-	TTN	NM_133378,p.P10626S|uc031rqd.1,p.P11553S|uc021vsy.2,p.P10626S|ENST00000589042,p.P13060S|ENST00000342992,p.P10626S|NM_001267550,p.P13060S|NM_001256850,p.P11553S|ENST00000591111,p.P11553S|uc031rqc.1,p.P13060S	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon158	c.C34657T	p.P11553S	KEVVPEKKVPVPPPKKPEVPPTKVP	KEVVPEKKVPVPSPKKPEVPPTKVP	1.0	8.0	unscreened	-	3713_2:179517024-179517024 G>A_KEVVPEKKVPVPSPKKPEVPPTKVP
1:62253430-62253430 G>A	0.0	3713	MELANOMA	-	-	-	-	INADL	NM_176877,p.G285E|uc001daa.2,p.G285E|ENST00000371158,p.G285E|ENST00000316485,p.G285E|uc001dab.3,p.G285E|uc009waf.1,p.G285E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009waf.1	nonsynonymous SNV	exon8	c.G854A	p.G285E	RTIVPGGLADRDGRLQTGDHILKIG	RTIVPGGLADRDERLQTGDHILKIG	1.0	3.0	unscreened	-	3713_1:62253430-62253430 G>A_RTIVPGGLADRDERLQTGDHILKIG
7:95221374-95221374 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1163481;OCCURENCE=1(pancreas)	-	PDK4	NM_002612,p.A207V|ENST00000005178,p.A207V|uc003uoa.3,p.A207V	retained_intron, protein_coding	uc003uoa.3	nonsynonymous SNV	exon6	c.C620T	p.A207V	DPNCDVVAVVQDAFECSRMLCDQYY	DPNCDVVAVVQDVFECSRMLCDQYY	4.0	5.0	unscreened	-	3713_7:95221374-95221374 G>A_DPNCDVVAVVQDVFECSRMLCDQYY
1:157803192-157803192 C>T	0.0	3713	MELANOMA	-	-	-	-	CD5L	uc001frk.4,p.E277K|NM_005894,p.E277K|ENST00000368174,p.E277K	protein_coding, processed_transcript	uc001frk.4	nonsynonymous SNV	exon5	c.G829A	p.E277K	WGSVCDDNWGEKEDQVVCKQLGCGK	WGSVCDDNWGEKKDQVVCKQLGCGK	1.0	2.0	unscreened	-	3713_1:157803192-157803192 C>T_WGSVCDDNWGEKKDQVVCKQLGCGK
2:175431807-175431807 C>T	0.0	3713	MELANOMA	-	-	ID=COSM171261;OCCURENCE=1(large_intestine)	-	WIPF1	ENST00000409891,p.E483K|uc002ujb.2,p.E483K	retained_intron, protein_coding, processed_transcript	uc002ujb.2	nonsynonymous SNV	exon7	c.G1447A	p.E483K	TTKSYPSKLARNESRSEYFCQGF	TTKSYPSKLARNKSRSEYFCQGF	9.0	6.0	unscreened	-	3713_2:175431807-175431807 C>T_TTKSYPSKLARNKSRSEYFCQGF
11:58722282-58722282 C>T	0.0	3713	MELANOMA	-	-	-	-	GLYATL1	ENST00000300079,p.R107C|uc001nni.2,p.R76C|ENST00000526351,p.R99C|uc031qbb.1,p.R35C|uc001nnj.2,p.R76C|uc001nnh.2,p.R107C|uc001nnf.3,p.R76C|ENST00000317391,p.R76C|NM_001220494,p.R76C|NM_001220496,p.R76C|NM_080661,p.R107C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qbb.1	nonsynonymous SNV	exon2	c.C103T	p.R35C	MTDDMDSYTNVYRMFSKEPQKSEEV	MTDDMDSYTNVYCMFSKEPQKSEEV	1.0	5.0	unscreened	-	3713_11:58722282-58722282 C>T_MTDDMDSYTNVYCMFSKEPQKSEEV
2:239016559-239016559 G>A	0.0	3713	MELANOMA	-	-	-	-	ESPNL	NM_194312,p.R267K|ENST00000409169,p.R267K|uc002vxq.4,p.R267K|ENST00000343063,p.R267K	protein_coding, processed_transcript	uc002vxq.4	nonsynonymous SNV	exon4	c.G800A	p.R267K	LDRLLLMGTPILRDSWGGTPLHDAA	LDRLLLMGTPILKDSWGGTPLHDAA	2.0	8.0	unscreened	-	3713_2:239016559-239016559 G>A_LDRLLLMGTPILKDSWGGTPLHDAA
2:47044515-47044515 G>A	0.0	3713	MELANOMA	-	-	-	-	LINC01118	ENST00000409912,p.V73M|uc002rvh.3,p.V73M	protein_coding, processed_transcript	uc002rvh.3	nonsynonymous SNV	exon2	c.G217A	p.V73M	LSSDCPTWLQVRVRGSWRWKMQLGE	LSSDCPTWLQVRMRGSWRWKMQLGE	1.0	5.0	unscreened	-	3713_2:47044515-47044515 G>A_LSSDCPTWLQVRMRGSWRWKMQLGE
6:74072827-74072827 G>A	0.0	3713	MELANOMA	-	-	-	-	KHDC3L	NM_001017361,p.G60E|uc003pgt.4,p.G60E|ENST00000370367,p.G60E	protein_coding	uc003pgt.4	nonsynonymous SNV	exon2	c.G179A	p.G60E	EVWLVEKIFGRGGERIPHVQGMSQI	EVWLVEKIFGRGEERIPHVQGMSQI	1.0	7.0	unscreened	-	3713_6:74072827-74072827 G>A_EVWLVEKIFGRGEERIPHVQGMSQI
4:17649280-17649280 C>T	0.0	3713	MELANOMA	-	-	-	-	FAM184B	uc003gpm.4,p.D776N|ENST00000265018,p.D776N|NM_015688,p.D776N	protein_coding	uc003gpm.4	nonsynonymous SNV	exon12	c.G2326A	p.D776N	QQASSQCPGDSKDHIIATEERGGPG	QQASSQCPGDSKNHIIATEERGGPG	1.0	3.0	unscreened	-	3713_4:17649280-17649280 C>T_QQASSQCPGDSKNHIIATEERGGPG
7:141740555-141740555 G>A	0.0	3713	MELANOMA	-	-	-	-	MGAM	NM_004668,p.E803K|ENST00000475668,p.E803K|ENST00000549489,p.E803K|uc003vwy.3,p.E803K	retained_intron, protein_coding, processed_transcript	uc003vwy.3	nonsynonymous SNV	exon21	c.G2407A	p.E803K	TGSQVRWRKQKVEMELPGDKIGLHL	TGSQVRWRKQKVKMELPGDKIGLHL	1.0	8.0	unscreened	-	3713_7:141740555-141740555 G>A_TGSQVRWRKQKVKMELPGDKIGLHL
17:34072045-34072045 C>T	0.0	3713	MELANOMA	-	-	-	-	GAS2L2	ENST00000254466,p.G824E|uc002hjv.2,p.G824E|NM_139285,p.G824E|ENST00000587565,p.G808E	protein_coding	uc002hjv.2	nonsynonymous SNV	exon6	c.G2471A	p.G824E	KDRLLRAVLGSKGGEASRVDGASVG	KDRLLRAVLGSKEGEASRVDGASVG	1.0	2.0	unscreened	-	3713_17:34072045-34072045 C>T_KDRLLRAVLGSKEGEASRVDGASVG
7:82579654-82579654 G>A	1.0	3713	MELANOMA	-	-	-	-	PCLO	ENST00000423517,p.A3417V|ENST00000437081,p.A137V|ENST00000333891,p.A3417V|uc003uhx.2,p.A3417V|NM_014510,p.A3417V|uc010lec.3,p.A382V|NM_033026,p.A3417V|uc003uhv.2,p.A3417V	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lec.3	nonsynonymous SNV	exon1	c.C1145T	p.A382V	KEEKQPKKRSSGAKVRGQYDDMGEN	KEEKQPKKRSSGVKVRGQYDDMGEN	2.0	8.0	unscreened	-	3713_7:82579654-82579654 G>A_KEEKQPKKRSSGVKVRGQYDDMGEN
1:47610096-47610096 G>A	0.0	3713	MELANOMA	-	-	-	-	CYP4A22	ENST00000371890,p.E235K|uc009vyp.3,p.E235K	protein_coding, processed_transcript	uc009vyp.3	nonsynonymous SNV	exon6	c.G703A	p.E235K	TEGGGAGEDQEEEALGFSGHPPLGQ	TEGGGAGEDQEEKALGFSGHPPLGQ	1.0	7.0	unscreened	-	3713_1:47610096-47610096 G>A_TEGGGAGEDQEEKALGFSGHPPLGQ
X:47435549-47435549 C>T	0.0	3713	MELANOMA	-	-	-	-	SYN1	uc004die.3,p.G380E|NM_133499,p.G380E|ENST00000295987,p.G380E|NM_006950,p.G380E|uc004did.3,p.G380E|ENST00000340666,p.G380E	protein_coding	uc004die.3	nonsynonymous SNV	exon9	c.G1139A	p.G380E	DICAVEALHGKDGRDHIIEVVGSSM	DICAVEALHGKDERDHIIEVVGSSM	1.0	4.0	unscreened	-	3713_X:47435549-47435549 C>T_DICAVEALHGKDERDHIIEVVGSSM
8:3081309-3081309 C>T	0.0	3713	MELANOMA	-	-	-	-	CSMD1	ENST00000542608,p.E1476K|ENST00000537824,p.E1476K|uc022aqr.1,p.E1476K|uc003wqe.3,p.E633K|NM_033225,p.E1476K|uc011kwj.2,p.E869K|ENST00000539096,p.E1476K|ENST00000520002,p.E1477K|ENST00000602723,p.E1477K|ENST00000602557,p.E1477K|ENST00000400186,p.E1477K	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon28	c.G4426A	p.E1476K	SPNYPQPYPPGKECDWRVKVNPDFV	SPNYPQPYPPGKKCDWRVKVNPDFV	1.0	2.0	unscreened	-	3713_8:3081309-3081309 C>T_SPNYPQPYPPGKKCDWRVKVNPDFV
20:40735448-40735448 C>T	0.0	3713	MELANOMA	-	-	-	1	PTPRT	uc010ggj.3,p.R1142K|ENST00000373198,p.R1145K|ENST00000356100,p.R1132K|uc002xkg.3,p.R1123K|NM_133170,p.R1142K|ENST00000373190,p.R1122K|ENST00000373201,p.R1113K|ENST00000373193,p.R1126K|ENST00000373187,p.R1123K|NM_007050,p.R1123K|uc010ggi.3,p.R326K|ENST00000373184,p.R1133K	protein_coding, processed_transcript	uc010ggj.3	nonsynonymous SNV	exon25	c.G3425A	p.R1142K	DIFNCVRELRAQRVNLVQTEEQYVF	DIFNCVRELRAQKVNLVQTEEQYVF	1.0	6.0	unscreened	-	3713_20:40735448-40735448 C>T_DIFNCVRELRAQKVNLVQTEEQYVF
9:14737461-14737461 C>T	0.0	3713	MELANOMA	-	-	-	-	FREM1	ENST00000380881,p.G2159E|NM_144966,p.G2158E|ENST00000422223,p.G2158E|uc003zll.3,p.G694E|ENST00000380894,p.G694E|ENST00000380880,p.G2158E|uc003zlm.3,p.G2158E|NM_001177704,p.G694E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zlm.3	nonsynonymous SNV	exon38	c.G6473A	p.G2158E	KLGKSCVLVQRQGKWQTKDCRRAKP	KLGKSCVLVQRQEKWQTKDCRRAKP	3.0	2.0	unscreened	-	3713_9:14737461-14737461 C>T_KLGKSCVLVQRQEKWQTKDCRRAKP
2:165795964-165795964 C>T	0.0	3713	MELANOMA	-	-	-	-	SLC38A11	uc002ucv.2,p.G122E|NM_001199148,p.G122E|NM_173512,p.G100E|ENST00000409149,p.G122E|uc002ucw.2,p.G122E|uc002ucu.2,p.G100E|ENST00000409662,p.G122E|ENST00000303735,p.G100E|ENST00000409058,p.G153E	retained_intron, protein_coding, processed_transcript	uc002ucw.2	nonsynonymous SNV	exon5	c.G365A	p.G122E	LPLSLYRNIAKLGKVSLISTGLTTL	LPLSLYRNIAKLEKVSLISTGLTTL	1.0	4.0	unscreened	-	3713_2:165795964-165795964 C>T_LPLSLYRNIAKLEKVSLISTGLTTL
18:31319254-31319254 G>A	0.0	3713	MELANOMA	-	-	-	-	ASXL3	ENST00000269197,p.G629E|uc002kxq.2,p.G336E|uc010dmg.1,p.G629E|NM_030632,p.G629E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dmg.1	nonsynonymous SNV	exon11	c.G1886A	p.G629E	SPEGACTSLPSPGGETQSTSEESCT	SPEGACTSLPSPEGETQSTSEESCT	1.0	8.0	unscreened	-	3713_18:31319254-31319254 G>A_SPEGACTSLPSPEGETQSTSEESCT
7:31378530-31378530 C>T	0.0	3713	MELANOMA	-	-	-	-	NEUROD6	uc022abi.1,p.R118K|ENST00000297142,p.R118K|NM_022728,p.R118K|uc003tch.4,p.R118K	protein_coding	uc022abi.1	nonsynonymous SNV	exon1	c.G353A	p.R118K	RMHGLNDALDNLRKVVPCYSKTQKL	RMHGLNDALDNLKKVVPCYSKTQKL	1.0	6.0	unscreened	-	3713_7:31378530-31378530 C>T_RMHGLNDALDNLKKVVPCYSKTQKL
7:100647855-100647855 C>T	0.0	3713	MELANOMA	-	-	-	-	MUC12	NM_001164462,p.P4671S|ENST00000379442,p.P4814S|uc003uxo.3,p.P4671S|ENST00000536621,p.P4671S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.C14011T	p.P4671S	HSSPGSIATTHFPESSTTSGRSEES	HSSPGSIATTHFSESSTTSGRSEES	1.0	2.0	unscreened	-	3713_7:100647855-100647855 C>T_HSSPGSIATTHFSESSTTSGRSEES
15:101464886-101464886 C>T	0.0	3713	MELANOMA	-	-	-	-	LRRK1	ENST00000525284,p.P17S|uc002bwr.3,p.P17S|ENST00000534045,p.P17S|ENST00000388948,p.P17S|ENST00000531270,p.P17S|ENST00000532029,p.P17S|NM_024652,p.P17S|uc002bwq.1,p.P17S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bwr.3	nonsynonymous SNV	exon2	c.C49T	p.P17S	SQRPPSMYWCVGPEESAVCPERAME	SQRPPSMYWCVGSEESAVCPERAME	3.0	8.0	unscreened	-	3713_15:101464886-101464886 C>T_SQRPPSMYWCVGSEESAVCPERAME
1:113662058-113662058 C>T	1.0	3713	MELANOMA	-	-	-	-	LRIG2	ENST00000361127,p.P962S|uc001edf.1,p.P962S|NM_014813,p.P962S|uc009wgn.1,p.P859S	protein_coding, processed_transcript	uc009wgn.1	nonsynonymous SNV	exon18	c.C2575T	p.P859S	PPQDTTALESLIPSANREPSAFPTN	PPQDTTALESLISSANREPSAFPTN	5.0	3.0	-	-	3713_1:113662058-113662058 C>T_PPQDTTALESLISSANREPSAFPTN
2:179558649-179558649 C>T	0.0	3713	MELANOMA	-	-	-	-	TTN	ENST00000342992,p.V9261I|NM_001267550,p.V10505I|uc031rqc.1,p.V10505I|uc021vsy.2,p.V9261I|uc031rqd.1,p.V10188I|NM_133378,p.V9261I|ENST00000589042,p.V10505I|ENST00000414766,p.V383I|uc010fre.1,p.V372I|NM_001256850,p.V10188I|ENST00000591111,p.V10188I|uc002umz.1,p.V5922I	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon116	c.G30562A	p.V10188I	FASHTEEEVSVTVPEVQKEIVTEEK	FASHTEEEVSVTIPEVQKEIVTEEK	1.0	5.0	unscreened	-	3713_2:179558649-179558649 C>T_FASHTEEEVSVTIPEVQKEIVTEEK
2:179610805-179610805 C>T	0.0	3713	MELANOMA	-	-	ID=COSM228026;OCCURENCE=1(skin)	-	TTN	NM_133379,p.R5441Q|uc002unb.3,p.R5441Q|ENST00000360870,p.R5441Q	retained_intron, protein_coding	uc002unb.3	nonsynonymous SNV	exon46	c.G16322A	p.R5441Q	ISEEKGSHTLKIRNVCLSDSATYRC	ISEEKGSHTLKIQNVCLSDSATYRC	1.0	4.0	unscreened	-	3713_2:179610805-179610805 C>T_ISEEKGSHTLKIQNVCLSDSATYRC
13:32929096-32929096 A>G	0.0	3713	MELANOMA	-	-	-	1	BRCA2	NM_000059,p.E2369G|ENST00000380152,p.E2369G|uc001uub.1,p.E2369G|ENST00000544455,p.E2369G	retained_intron, protein_coding, nonsense_mediated_decay	uc001uub.1	nonsynonymous SNV	exon14	c.A7106G	p.E2369G	LSKSHLYEHLTLEKSSSNLAVSGHP	LSKSHLYEHLTLGKSSSNLAVSGHP	4.0	2.0	unscreened	-	3713_13:32929096-32929096 A>G_LSKSHLYEHLTLGKSSSNLAVSGHP
8:106815359-106815359 G>A	0.0	3713	MELANOMA	-	-	-	-	ZFPM2	ENST00000520492,p.G885S|ENST00000378472,p.G748S|uc011lhs.2,p.G748S|NM_012082,p.G1017S|ENST00000517361,p.G885S|ENST00000407775,p.G1017S|uc003ymd.3,p.G1017S	protein_coding, processed_transcript	uc011lhs.2	nonsynonymous SNV	exon6	c.G2242A	p.G748S	EQSRNAENESPKGQASSNGCAALKK	EQSRNAENESPKSQASSNGCAALKK	1.0	9.0	unscreened	-	3713_8:106815359-106815359 G>A_EQSRNAENESPKSQASSNGCAALKK
5:140474762-140474762 G>A	1.0	3713	MELANOMA	-	-	-	-	PCDHB2	uc003lil.3,p.D130N|ENST00000194155,p.D130N|NM_018936,p.D130N	protein_coding	uc003lil.3	nonsynonymous SNV	exon1	c.G388A	p.D130N	FFQAELRIRDVNDHSPVFLDKEILL	FFQAELRIRDVNNHSPVFLDKEILL	2.0	3.0	unscreened	-	3713_5:140474762-140474762 G>A_FFQAELRIRDVNNHSPVFLDKEILL
9:119903607-119903607 C>T	0.0	3713	MELANOMA	-	-	-	-	ASTN2	ENST00000373996,p.R389Q|uc022bml.1,p.R38Q|ENST00000373986,p.R116Q|ENST00000313400,p.R389Q|uc022bmm.1,p.R38Q	protein_coding	uc022bmm.1	nonsynonymous SNV	exon2	c.G113A	p.R38Q	TSAGKRKRRSKSRGGISFGRAKGTS	TSAGKRKRRSKSQGGISFGRAKGTS	3.0	8.0	-	-	3713_9:119903607-119903607 C>T_TSAGKRKRRSKSQGGISFGRAKGTS
7:23871866-23871866 C>T	0.0	3713	MELANOMA	-	-	-	-	STK31	uc003swv.1,p.P147S|NM_032944,p.P958S|ENST00000354639,p.P958S|ENST00000428484,p.P958S|uc011jze.3,p.P958S|uc003swt.5,p.P958S|uc010kuq.4,p.P958S|NM_031414,p.P981S|NM_001260505,p.P958S|ENST00000433467,p.P958S|ENST00000355870,p.P981S|NM_001260504,p.P958S|uc003sws.5,p.P981S|uc031swr.1,p.P958S	retained_intron, protein_coding, processed_transcript	uc031swr.1	nonsynonymous SNV	exon24	c.C2872T	p.P958S	AECFLMPKEQSVPNPEKDTEYTLYK	AECFLMPKEQSVSNPEKDTEYTLYK	1.0	2.0	unscreened	-	3713_7:23871866-23871866 C>T_AECFLMPKEQSVSNPEKDTEYTLYK
8:27097571-27097571 C>T	0.0	3713	MELANOMA	-	-	-	-	STMN4	NM_001283053,p.E170K|ENST00000265770,p.E143K|ENST00000519997,p.E134K|uc011laj.2,p.E134K|ENST00000350889,p.E170K|ENST00000519614,p.E143K|NM_001283055,p.E134K|uc010luo.3,p.E143K|uc011lak.2,p.E170K|uc011lai.2,p.E170K|ENST00000523048,p.E170K|NM_030795,p.E170K|NM_001283054,p.E143K|ENST00000522908,p.E170K|uc003xfk.3,p.E143K|uc003xfj.3,p.E170K	retained_intron, protein_coding	uc011lak.2	nonsynonymous SNV	exon6	c.G508A	p.E170K	IEENNNFIKMAKEKLAQKMESNKEN	IEENNNFIKMAKKKLAQKMESNKEN	1.0	9.0	unscreened	-	3713_8:27097571-27097571 C>T_IEENNNFIKMAKKKLAQKMESNKEN
3:164727096-164727096 C>T	0.0	3713	MELANOMA	-	-	-	-	SI	ENST00000264382,p.E1384K|NM_001041,p.E1384K|uc003fei.3,p.E1384K	retained_intron, protein_coding, nonsense_mediated_decay	uc003fei.3	nonsynonymous SNV	exon35	c.G4150A	p.E1384K	EWWAREIVDFYNEKMKFDGLWIDMN	EWWAREIVDFYNKKMKFDGLWIDMN	1.0	7.0	unscreened	-	3713_3:164727096-164727096 C>T_EWWAREIVDFYNKKMKFDGLWIDMN
7:103230142-103230142 C>T	0.0	3713	MELANOMA	-	-	ID=COSM744317;OCCURENCE=1(skin),1(lung)	-	RELN	ENST00000424685,p.G1349E|uc022ajq.1,p.G1349E|ENST00000428762,p.G1349E|uc010liz.3,p.G1349E|NM_005045,p.G1349E|ENST00000343529,p.G1349E|NM_173054,p.G1349E|uc022ajr.1,p.G1349E	retained_intron, protein_coding, processed_transcript	uc022ajr.1	nonsynonymous SNV	exon28	c.G4046A	p.G1349E	GCYPASAGKGCEGNSRELSEPTMYH	GCYPASAGKGCEENSRELSEPTMYH	1.0	8.0	unscreened	-	3713_7:103230142-103230142 C>T_GCYPASAGKGCEENSRELSEPTMYH
6:32725081-32725081 C>T	0.0	3713	MELANOMA	-	-	-	-	HLA-DQB2	uc003obz.2,p.G253E|ENST00000435145,p.G253E	protein_coding	uc003obz.2	nonsynonymous SNV	exon5	c.G758A	p.G253E	GLGLIIRHRGQKGPRGPPPAGNISA	GLGLIIRHRGQKEPRGPPPAGNISA	7.0	2.0	unscreened	-	3713_6:32725081-32725081 C>T_GLGLIIRHRGQKEPRGPPPAGNISA
14:24845904-24845904 C>T	1.0	3713	MELANOMA	-	-	-	-	NFATC4	ENST00000556759,p.P356S|ENST00000422617,p.P809S|ENST00000555167,p.P356S|uc001wpc.3,p.P821S|ENST00000424781,p.P834S|uc010tol.2,p.P884S|uc010top.2,p.P853S|NM_001198966,p.P751S|uc010ton.2,p.P834S|ENST00000555590,p.P834S|NM_004554,p.P821S|ENST00000553708,p.P821S|ENST00000557451,p.P751S|uc010alt.3,p.P853S|ENST00000555802,p.P109S|uc010tok.2,p.P884S|ENST00000554344,p.P751S|ENST00000555453,p.P809S|uc010tos.2,p.P751S|NM_001288802,p.P809S|ENST00000553879,p.P751S|uc010alv.3,p.P809S|uc010tot.2,p.P809S|uc010tox.2,p.P751S|uc010tou.2,p.P751S|ENST00000413692,p.P884S|NM_001136022,p.P884S|uc010tom.2,p.P834S|uc010toz.2,p.P356S|ENST00000250373,p.P821S|ENST00000539237,p.P853S|uc001wpd.3,p.P356S|ENST00000556279,p.P853S|ENST00000555393,p.P109S|uc010tpb.2,p.P109S|uc010tpa.2,p.P109S	retained_intron, protein_coding, processed_transcript	uc010tpb.2	nonsynonymous SNV	exon4	c.C325T	p.P109S	APFRPPPLPASPPLEGPFPSQSDVH	APFRPPPLPASPSLEGPFPSQSDVH	4.0	4.0	-	-	3713_14:24845904-24845904 C>T_APFRPPPLPASPSLEGPFPSQSDVH
5:79026873-79026873 C>T	0.0	3713	MELANOMA	-	-	-	-	CMYA5	NM_153610,p.T762I|ENST00000446378,p.T762I|uc003kgc.3,p.T762I	retained_intron, protein_coding, processed_transcript	uc003kgc.3	nonsynonymous SNV	exon2	c.C2285T	p.T762I	SEPSLSPSTTEKTSECQSPLPSTAT	SEPSLSPSTTEKISECQSPLPSTAT	1.0	7.0	unscreened	-	3713_5:79026873-79026873 C>T_SEPSLSPSTTEKISECQSPLPSTAT
1:152279432-152279432 C>T	1.0	3713	MELANOMA	-	-	-	-	FLG	NM_002016,p.E2644K|uc001ezu.1,p.E2644K|ENST00000368799,p.E2644K	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.G7930A	p.E2644K	QTSSGGQAASSHEQARSSAGERHGS	QTSSGGQAASSHKQARSSAGERHGS	1.0	2.0	unscreened	-	3713_1:152279432-152279432 C>T_QTSSGGQAASSHKQARSSAGERHGS
19:21607355-21607355 G>A	1.0	3713	MELANOMA	-	-	-	-	ZNF493	ENST00000355504,p.E504K|NM_175910,p.E504K|ENST00000392288,p.E632K|uc021urq.1,p.E504K|uc002npy.3,p.E504K|uc002npx.3,p.E504K|uc002npw.3,p.E632K|NM_001076678,p.E632K	retained_intron, protein_coding, nonsense_mediated_decay	uc021urq.1	nonsynonymous SNV	exon1	c.G1510A	p.E504K	KKIHTGEKPYKCEECGKAFKRSSHL	KKIHTGEKPYKCKECGKAFKRSSHL	6.0	8.0	unscreened	-	3713_19:21607355-21607355 G>A_KKIHTGEKPYKCKECGKAFKRSSHL
1:87045723-87045723 G>A	0.0	3713	MELANOMA	-	-	-	-	CLCA4	uc009wcu.3,p.E639K|ENST00000370563,p.E819K|uc009wcs.3,p.E819K|NM_012128,p.E819K|uc009wct.3,p.E582K	protein_coding, processed_transcript	uc009wcu.3	nonsynonymous SNV	exon12	c.G1915A	p.E639K	ALQVNTTDLSPKEANSKESFAFKPE	ALQVNTTDLSPKKANSKESFAFKPE	1.0	2.0	unscreened	-	3713_1:87045723-87045723 G>A_ALQVNTTDLSPKKANSKESFAFKPE
5:13862747-13862747 C>T	0.0	3713	MELANOMA	-	-	-	-	DNAH5	uc003jfd.2,p.G1569E|ENST00000265104,p.G1569E|NM_001369,p.G1569E	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon29	c.G4706A	p.G1569E	NKTFTFGSFKTRGELLLRGDSTSEI	NKTFTFGSFKTREELLLRGDSTSEI	1.0	4.0	unscreened	-	3713_5:13862747-13862747 C>T_NKTFTFGSFKTREELLLRGDSTSEI
16:3293978-3293978 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1191613;OCCURENCE=1(central_nervous_system)	-	MEFV	ENST00000541159,p.L406F|NM_001198536,p.L406F|uc021tbw.1,p.L406F	retained_intron, protein_coding, nonsense_mediated_decay	uc021tbw.1	nonsynonymous SNV	exon8	c.C1216T	p.L406F	HSMQGPKQGVPCLSLLSGQCNLAPL	HSMQGPKQGVPCFSLLSGQCNLAPL	2.0	3.0	unscreened	-	3713_16:3293978-3293978 G>A_HSMQGPKQGVPCFSLLSGQCNLAPL
18:29340606-29340606 G>A	0.0	3713	MELANOMA	-	-	-	-	SLC25A52	NM_001034172,p.H17Y|uc002kxa.3,p.H17Y|ENST00000269205,p.H17Y	protein_coding	uc002kxa.3	nonsynonymous SNV	exon1	c.C49T	p.H17Y	RKILSNMIDSEAHEKRPPILTSSKQ	RKILSNMIDSEAYEKRPPILTSSKQ	1.0	5.0	unscreened	-	3713_18:29340606-29340606 G>A_RKILSNMIDSEAYEKRPPILTSSKQ
3:108723921-108723921 G>A	0.0	3713	MELANOMA	-	-	-	-	MORC1	uc011bhn.2,p.S649F|ENST00000232603,p.S670F|NM_014429,p.S670F|uc003dxl.3,p.S670F|ENST00000483760,p.S649F	protein_coding	uc011bhn.2	nonsynonymous SNV	exon18	c.C1946T	p.S649F	VALPENVKLAERSQRSQIANITTVW	VALPENVKLAERFQRSQIANITTVW	1.0	6.0	unscreened	-	3713_3:108723921-108723921 G>A_VALPENVKLAERFQRSQIANITTVW
15:34105106-34105106 G>A	0.0	3713	MELANOMA	-	-	-	-	RYR3	ENST00000389232,p.D3434N|NM_001243996,p.D3429N|NM_001036,p.D3434N|uc001zhi.3,p.D3434N|uc010bar.3,p.D3429N|ENST00000415757,p.D3429N	retained_intron, protein_coding, processed_transcript	uc010bar.3	nonsynonymous SNV	exon72	c.G10285A	p.D3429N	DPAVKWQLNLYKDVLKSEEPFNPEK	DPAVKWQLNLYKNVLKSEEPFNPEK	1.0	8.0	unscreened	-	3713_15:34105106-34105106 G>A_DPAVKWQLNLYKNVLKSEEPFNPEK
19:10100179-10100179 C>T	1.0	3713	MELANOMA	-	-	-	-	COL5A3	NM_015719,p.G671E|ENST00000264828,p.G671E|uc002mmq.1,p.G671E	retained_intron, protein_coding	uc002mmq.1	nonsynonymous SNV	exon25	c.G2012A	p.G671E	GTPGEKGPPGNPGIPGLPGSDGPLG	GTPGEKGPPGNPEIPGLPGSDGPLG	2.0	8.0	unscreened	-	3713_19:10100179-10100179 C>T_GTPGEKGPPGNPEIPGLPGSDGPLG
1:248004279-248004279 C>T	0.0	3713	MELANOMA	-	-	-	-	OR11L1	NM_001001959,p.R307K|ENST00000355784,p.R307K|uc001idn.1,p.R307K	protein_coding	uc001idn.1	nonsynonymous SNV	exon1	c.G920A	p.R307K	KDFKEAVRKVMRRKCGILWSTSKRK	KDFKEAVRKVMRKKCGILWSTSKRK	1.0	3.0	unscreened	-	3713_1:248004279-248004279 C>T_KDFKEAVRKVMRKKCGILWSTSKRK
1:152733257-152733257 G>A	0.0	3713	MELANOMA	-	-	-	-	KPRP	ENST00000368773,p.R398Q|ENST00000606109,p.R398Q|uc021ozf.1,p.R398Q|NM_001025231,p.R398Q|uc001fal.1,p.R398Q	protein_coding	uc021ozf.1	nonsynonymous SNV	exon1	c.G1193A	p.R398Q	RRLDQCPESPLQRCPPPAPRPRLRP	RRLDQCPESPLQQCPPPAPRPRLRP	1.0	2.0	unscreened	-	3713_1:152733257-152733257 G>A_RRLDQCPESPLQQCPPPAPRPRLRP
2:228881246-228881246 C>T	0.0	3713	MELANOMA	-	-	-	-	SPHKAP	NM_030623,p.E1442K|uc002vpq.2,p.E1442K|ENST00000344657,p.E1442K|NM_001142644,p.E1442K|ENST00000392056,p.E1442K|uc002vpp.2,p.E1442K|uc010zlx.1,p.E1442K	retained_intron, protein_coding	uc010zlx.1	nonsynonymous SNV	exon7	c.G4324A	p.E1442K	QIETDQREACAGEPEPFLSKSSLLE	QIETDQREACAGKPEPFLSKSSLLE	1.0	3.0	unscreened	-	3713_2:228881246-228881246 C>T_QIETDQREACAGKPEPFLSKSSLLE
12:3600840-3600840 G>A	0.0	3713	MELANOMA	-	-	-	-	PRMT8	ENST00000382622,p.A17T|uc001qmf.4,p.A17T|NM_019854,p.A17T	retained_intron, protein_coding, processed_transcript	uc001qmf.4	nonsynonymous SNV	exon1	c.G49A	p.A17T	HSSRCLLLRRKMAENAAESTEVNSP	HSSRCLLLRRKMTENAAESTEVNSP	1.0	6.0	unscreened	-	3713_12:3600840-3600840 G>A_HSSRCLLLRRKMTENAAESTEVNSP
5:23526462-23526462 G>A	0.0	3713	MELANOMA	-	-	-	-	PRDM9	ENST00000296682,p.R422K|NM_020227,p.R422K|uc003jgo.3,p.R422K	protein_coding	uc003jgo.3	nonsynonymous SNV	exon11	c.G1265A	p.R422K	NHSSQNFPGPSARKLLQPENPCPGD	NHSSQNFPGPSAKKLLQPENPCPGD	1.0	8.0	unscreened	-	3713_5:23526462-23526462 G>A_NHSSQNFPGPSAKKLLQPENPCPGD
9:37126514-37126514 C>T	1.0	3713	MELANOMA	-	-	-	-	ZCCHC7	uc003zzq.3,p.S62L|uc031tds.1,p.S61L|ENST00000322831,p.S61L|uc010mlt.3,p.S61L|uc022bgu.1,p.S62L|NM_001289121,p.S62L|NM_001289120,p.S62L|NM_032226,p.S62L|uc003zzs.1,p.S61L|ENST00000336755,p.S62L|NM_001289119,p.S62L	protein_coding, processed_transcript	uc031tds.1	nonsynonymous SNV	exon2	c.C182T	p.S61L	REEEHEEKNSGNSESSSSKPNQKKL	REEEHEEKNSGNLESSSSKPNQKKL	6.0	2.0	unscreened	-	3713_9:37126514-37126514 C>T_REEEHEEKNSGNLESSSSKPNQKKL
7:127252031-127252031 G>A	0.0	3713	MELANOMA	-	-	-	-	PAX4	uc003vmh.3,p.P237S	retained_intron, protein_coding	uc003vmh.3	nonsynonymous SNV	exon6	c.C709T	p.P237S	MQLPGASQGLTVPRVAPGIISAQVL	MQLPGASQGLTVSRVAPGIISAQVL	1.0	3.0	unscreened	-	3713_7:127252031-127252031 G>A_MQLPGASQGLTVSRVAPGIISAQVL
8:87738864-87738864 G>A	0.0	3713	MELANOMA	-	-	ID=COSM751546;OCCURENCE=1(lung),1(skin)	-	CNGB3	uc003ydx.3,p.S78F|ENST00000320005,p.S78F|NM_019098,p.S78F	protein_coding, processed_transcript	uc003ydx.3	nonsynonymous SNV	exon3	c.C233T	p.S78F	HTNIQDKLSKKNSSGDLTTNPDPQN	HTNIQDKLSKKNFSGDLTTNPDPQN	1.0	2.0	unscreened	-	3713_8:87738864-87738864 G>A_HTNIQDKLSKKNFSGDLTTNPDPQN
12:3600839-3600839 G>A	0.0	3713	MELANOMA	-	-	-	-	PRMT8	uc001qmf.4,p.M16I|NM_019854,p.M16I|ENST00000382622,p.M16I	retained_intron, protein_coding, processed_transcript	uc001qmf.4	nonsynonymous SNV	exon1	c.G48A	p.M16I	KHSSRCLLLRRKMAENAAESTEVNS	KHSSRCLLLRRKIAENAAESTEVNS	1.0	6.0	unscreened	-	3713_12:3600839-3600839 G>A_KHSSRCLLLRRKIAENAAESTEVNS
3:193210736-193210736 G>A	0.0	3713	MELANOMA	-	-	-	-	ATP13A4	uc003ftd.3,p.S168L|uc003fte.1,p.S168L|NM_032279,p.S168L|ENST00000342695,p.S168L|ENST00000295548,p.S168L|ENST00000392443,p.S168L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003fte.1	nonsynonymous SNV	exon5	c.C503T	p.S168L	WLSSAKIHQKFGSGLTREEQEIRRL	WLSSAKIHQKFGLGLTREEQEIRRL	1.0	2.0	unscreened	-	3713_3:193210736-193210736 G>A_WLSSAKIHQKFGLGLTREEQEIRRL
11:1032041-1032041 C>T	0.0	3713	MELANOMA	-	-	ID=COSM3666038,COSM3666037;OCCURENCE=2(liver)	-	MUC6	ENST00000525923,p.G67D|uc001lsw.2,p.G43D|ENST00000421673,p.G43D|NM_005961,p.G43D	protein_coding	uc001lsw.2	nonsynonymous SNV	exon3	c.G128A	p.G43D	RLKDSPQTAPDKGQCSTWGAGHFST	RLKDSPQTAPDKDQCSTWGAGHFST	1.0	2.0	unscreened	-	3713_11:1032041-1032041 C>T_RLKDSPQTAPDKDQCSTWGAGHFST
1:11561714-11561714 G>A	0.0	3713	MELANOMA	-	-	-	-	PTCHD2	NM_020780,p.R222Q|ENST00000389575,p.R222Q|uc001ash.4,p.R222Q|ENST00000294484,p.R222Q|uc001asi.1,p.R222Q	protein_coding, processed_transcript	uc001asi.1	nonsynonymous SNV	exon1	c.G665A	p.R222Q	LEDLAANQSEDPRNQRLSKNGRYQP	LEDLAANQSEDPQNQRLSKNGRYQP	1.0	2.0	unscreened	-	3713_1:11561714-11561714 G>A_LEDLAANQSEDPQNQRLSKNGRYQP
2:179637906-179637906 C>T	0.0	3713	MELANOMA	-	-	-	-	TTN	uc021vsy.2,p.M2595I|NM_001256850,p.M2595I|ENST00000342992,p.M2595I|ENST00000589042,p.M2595I|uc021vsz.2,p.M2549I|ENST00000460472,p.M2549I|ENST00000360870,p.M2595I|ENST00000342175,p.M2549I|ENST00000359218,p.M2549I|NM_133378,p.M2595I|uc031rqd.1,p.M2595I|NM_003319,p.M2549I|uc021vtb.2,p.M2549I|NM_133379,p.M2595I|ENST00000591111,p.M2595I|uc031rqc.1,p.M2595I|uc021vta.2,p.M2549I|NM_133432,p.M2549I|NM_001267550,p.M2595I|uc002unb.3,p.M2595I|NM_133437,p.M2549I	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon33	c.G7785A	p.M2595I	HGKIYKLTVLNMMKDDEGKYTFYAG	HGKIYKLTVLNMIKDDEGKYTFYAG	1.0	5.0	unscreened	-	3713_2:179637906-179637906 C>T_HGKIYKLTVLNMIKDDEGKYTFYAG
6:159653513-159653513 C>A	0.0	3713	MELANOMA	-	-	-	-	FNDC1	NM_032532,p.L657I|ENST00000340366,p.L594I|uc010kjw.1,p.L542I|uc010kjv.3,p.L657I|ENST00000297267,p.L657I	protein_coding, processed_transcript	uc010kjw.1	nonsynonymous SNV	exon9	c.C1624A	p.L542I	VDSDEDERAVGSLHPKGAFAQPRPA	VDSDEDERAVGSIHPKGAFAQPRPA	1.0	8.0	unscreened	-	3713_6:159653513-159653513 C>A_VDSDEDERAVGSIHPKGAFAQPRPA
1:207286404-207286404 C>T	0.0	3713	MELANOMA	-	-	-	-	C4BPA	ENST00000421786,p.H12Y|uc001hfo.3,p.H12Y|ENST00000424088,p.H12Y|ENST00000367070,p.H12Y|NM_000715,p.H12Y	protein_coding, nonsense_mediated_decay	uc001hfo.3	nonsynonymous SNV	exon2	c.C34T	p.H12Y	MHPPKTPSGALHRKRKMAAWPFSR	MHPPKTPSGALYRKRKMAAWPFSR	1.0	2.0	unscreened	-	3713_1:207286404-207286404 C>T_MHPPKTPSGALYRKRKMAAWPFSR
1:158323824-158323824 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1718360;OCCURENCE=2(NS)	-	CD1E	uc010pie.2,p.E16K|ENST00000444681,p.E16K|uc009wsv.3,p.E16K|NM_001185114,p.E16K	protein_coding, processed_transcript	uc010pie.2	nonsynonymous SNV	exon1	c.G46A	p.E16K	LFLLFEGLCCPGENTADPFEIQILA	LFLLFEGLCCPGKNTADPFEIQILA	1.0	8.0	unscreened	-	3713_1:158323824-158323824 G>A_LFLLFEGLCCPGKNTADPFEIQILA
19:22940337-22940337 C>T	0.0	3713	MELANOMA	-	-	-	-	ZNF99	uc021urt.1,p.E792K|ENST00000397104,p.E701K|ENST00000596209,p.E792K|NM_001080409,p.E792K	protein_coding	uc021urt.1	nonsynonymous SNV	exon4	c.G2374A	p.E792K	KIIHTGKKPYKCEECGKAFNNSSTL	KIIHTGKKPYKCKECGKAFNNSSTL	1.0	2.0	unscreened	-	3713_19:22940337-22940337 C>T_KIIHTGKKPYKCKECGKAFNNSSTL
6:125284439-125284439 G>A	0.0	3713	MELANOMA	-	-	-	-	RNF217	ENST00000560949,p.G15D|ENST00000521654,p.G250D|uc003pzr.3,p.G15D|NM_001286398,p.G250D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pzr.3	nonsynonymous SNV	exon1	c.G44A	p.G15D	SLLGAPPYSGLGGVGDPYVPLMVLM	SLLGAPPYSGLGDVGDPYVPLMVLM	3.0	5.0	unscreened	-	3713_6:125284439-125284439 G>A_SLLGAPPYSGLGDVGDPYVPLMVLM
7:100681301-100681301 C>T	0.0	3713	MELANOMA	-	-	-	-	MUC17	ENST00000379439,p.P2202S|uc003uxp.1,p.P2202S|ENST00000306151,p.P2202S|NM_001040105,p.P2202S	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.C6604T	p.P2202S	TPVTNSTEARSSPTTSEGTSMPTST	TPVTNSTEARSSSTTSEGTSMPTST	1.0	7.0	unscreened	-	3713_7:100681301-100681301 C>T_TPVTNSTEARSSSTTSEGTSMPTST
1:209796440-209796440 C>T	0.0	3713	MELANOMA	-	-	-	-	LAMB3	ENST00000367030,p.G815S|uc009xco.3,p.G815S|NM_000228,p.G815S|ENST00000391911,p.G815S|uc001hhg.3,p.G815S|NM_001017402,p.G815S|ENST00000356082,p.G815S|NM_001127641,p.G815S|uc001hhh.3,p.G815S	protein_coding	uc009xco.3	nonsynonymous SNV	exon17	c.G2443A	p.G815S	GELCPQDNGTACGSRCRGVLPRAGG	GELCPQDNGTACSSRCRGVLPRAGG	1.0	2.0	-	-	3713_1:209796440-209796440 C>T_GELCPQDNGTACSSRCRGVLPRAGG
2:212812205-212812205 C>T	0.0	3713	MELANOMA	-	-	-	1	ERBB4	NM_001042599,p.R124K|ENST00000436443,p.R124K|uc002veg.1,p.R124K|uc010zji.1,p.R124K|NM_005235,p.R124K|uc010fut.1,p.R124K|ENST00000435846,p.R65K|uc002veh.1,p.R124K|ENST00000342788,p.R124K|uc010zjj.1,p.R124K|ENST00000402597,p.R124K	retained_intron, protein_coding, processed_transcript	uc010zjj.1	nonsynonymous SNV	exon3	c.G371A	p.R124K	EDRYALAIFLNYRKDGNFGLQELGL	EDRYALAIFLNYKKDGNFGLQELGL	1.0	4.0	unscreened	-	3713_2:212812205-212812205 C>T_EDRYALAIFLNYKKDGNFGLQELGL
16:20489940-20489940 G>A	0.0	3713	MELANOMA	-	-	-	-	ACSM2A	NM_001010845,p.G408R|ENST00000417235,p.G329R|uc010bwe.3,p.G408R|uc002dhh.4,p.G38R|uc002dhf.4,p.G408R|ENST00000396104,p.G408R|ENST00000536134,p.G180R|ENST00000219054,p.G408R|uc010vax.1,p.G329R|uc010vay.2,p.G329R|uc002dhg.4,p.G408R|ENST00000575690,p.G408R|ENST00000573854,p.G408R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vay.2	nonsynonymous SNV	exon9	c.G985A	p.G329R	DDKGNVLPPGTEGDIGIRVKPIRPI	DDKGNVLPPGTERDIGIRVKPIRPI	1.0	7.0	unscreened	-	3713_16:20489940-20489940 G>A_DDKGNVLPPGTERDIGIRVKPIRPI
1:223724380-223724380 C>T	0.0	3713	MELANOMA	-	-	-	-	CAPN8	ENST00000442247,p.D1N|ENST00000430824,p.D1N	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000442247	nonsynonymous SNV	exon1	c.G1A	p.D1N	DSEITANALKILL	NSEITANALKILL	1.0	2.0	unscreened	-	3713_1:223724380-223724380 C>T_NSEITANALKILL
20:43836488-43836488 G>A	0.0	3713	MELANOMA	-	-	-	-	SEMG1	ENST00000372781,p.G184S|NM_003007,p.G184S|uc002xnj.2,p.G184S|ENST00000244069,p.G184S|uc002xni.2,p.G184S	protein_coding	uc002xnj.2	nonsynonymous SNV	exon2	c.G550A	p.G184S	SKEQTSVSGAQKGRKQGGSQSSYVL	SKEQTSVSGAQKSRKQGGSQSSYVL	1.0	9.0	unscreened	-	3713_20:43836488-43836488 G>A_SKEQTSVSGAQKSRKQGGSQSSYVL
7:102108561-102108561 C>T	1.0	3713	MELANOMA	-	-	-	-	LRWD1	uc003uzn.3,p.P244L|NM_152892,p.P244L|ENST00000292616,p.P244L	retained_intron, protein_coding, nonsense_mediated_decay	uc003uzn.3	nonsynonymous SNV	exon6	c.C731T	p.P244L	LKRPDDVPLSLSPSKRACASPSAQV	LKRPDDVPLSLSLSKRACASPSAQV	4.0	7.0	-	-	3713_7:102108561-102108561 C>T_LKRPDDVPLSLSLSKRACASPSAQV
3:111730712-111730712 G>A	0.0	3713	MELANOMA	-	-	-	-	TAGLN3	uc003dyl.3,p.R153K|NM_001008273,p.R153K|uc003dyn.3,p.R153K|uc003dym.3,p.R153K|NM_013259,p.R153K|ENST00000478951,p.R153K|ENST00000455401,p.R153K|ENST00000486460,p.R69K|ENST00000273368,p.R153K|NM_001008272,p.R153K|ENST00000393917,p.R153K|uc003dyo.3,p.R153K	protein_coding	uc003dyo.3	nonsynonymous SNV	exon3	c.G458A	p.R153K	DGCYRGEPSWFHRKAQQNRRGFSEE	DGCYRGEPSWFHKKAQQNRRGFSEE	1.0	2.0	unscreened	-	3713_3:111730712-111730712 G>A_DGCYRGEPSWFHKKAQQNRRGFSEE
12:52632464-52632464 G>A	0.0	3713	MELANOMA	-	-	-	-	KRT7	ENST00000331817,p.D200N|uc001saa.1,p.D200N|NM_005556,p.D200N	retained_intron, protein_coding, processed_transcript	uc001saa.1	nonsynonymous SNV	exon4	c.G598A	p.D200N	TAAENEFVVLKKDVDAAYMSKVELE	TAAENEFVVLKKNVDAAYMSKVELE	1.0	5.0	-	-	3713_12:52632464-52632464 G>A_TAAENEFVVLKKNVDAAYMSKVELE
11:108398882-108398882 G>A	0.0	3713	MELANOMA	-	-	-	-	EXPH5	NM_015065,p.P158L|uc001pkk.3,p.P158L|ENST00000526312,p.P82L|ENST00000428840,p.P82L|ENST00000525344,p.P151L|ENST00000265843,p.P158L	protein_coding, processed_transcript	uc001pkk.3	nonsynonymous SNV	exon4	c.C473T	p.P158L	QKGCDGHAGPPMPVRGAAVQAKIYN	QKGCDGHAGPPMLVRGAAVQAKIYN	1.0	4.0	unscreened	-	3713_11:108398882-108398882 G>A_QKGCDGHAGPPMLVRGAAVQAKIYN
3:54661823-54661823 G>A	0.0	3713	MELANOMA	-	-	-	-	CACNA2D3	NM_018398,p.E325K|ENST00000477024,p.E231K|uc003dhg.1,p.E231K|ENST00000471363,p.E231K|ENST00000415676,p.E325K|ENST00000288197,p.E325K|ENST00000490478,p.E231K|ENST00000474759,p.E325K|uc010hmv.1,p.E59K|uc003dhf.3,p.E325K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hmv.1	nonsynonymous SNV	exon8	c.G175A	p.E59K	VQADRTNKEHFREHLDKLFAKGIGM	VQADRTNKEHFRKHLDKLFAKGIGM	1.0	7.0	unscreened	-	3713_3:54661823-54661823 G>A_VQADRTNKEHFRKHLDKLFAKGIGM
17:40327712-40327712 C>T	0.0	3713	MELANOMA	-	-	-	-	KCNH4	uc002hzb.2,p.G291D|ENST00000607371,p.G291D|ENST00000264661,p.G291D|NM_012285,p.G291D	protein_coding	uc002hzb.2	nonsynonymous SNV	exon6	c.G872A	p.G291D	ILNFRTTYVSQSGQVISAPRSIGLH	ILNFRTTYVSQSDQVISAPRSIGLH	1.0	8.0	unscreened	-	3713_17:40327712-40327712 C>T_ILNFRTTYVSQSDQVISAPRSIGLH
4:46067487-46067487 G>A	0.0	3713	MELANOMA	-	-	-	-	GABRG1	ENST00000295452,p.P146S|uc003gxb.3,p.P146S|NM_173536,p.P146S	protein_coding	uc003gxb.3	nonsynonymous SNV	exon4	c.C436T	p.P146S	MLNSNMVGKIWIPDTFFRNSRKSDA	MLNSNMVGKIWISDTFFRNSRKSDA	1.0	5.0	unscreened	-	3713_4:46067487-46067487 G>A_MLNSNMVGKIWISDTFFRNSRKSDA
1:158323824-158323824 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1718360;OCCURENCE=2(NS)	-	CD1E	ENST00000368167,p.E16K|NM_001042585,p.E16K|NM_001185108,p.E16K|uc001fry.3,p.E16K|NM_030893,p.E16K|NM_001042584,p.E16K|uc001fse.3,p.E16K|ENST00000368161,p.E16K|uc001fsf.3,p.E16K|uc001fsj.3,p.E16K|ENST00000368163,p.E16K|NM_001042583,p.E16K|uc001frz.3,p.E16K|NM_001185107,p.E16K|ENST00000368165,p.E16K|ENST00000368160,p.E16K|ENST00000368156,p.E16K|ENST00000368155,p.E16K|uc001fsk.3,p.E16K|uc001fsd.3,p.E16K|NM_001185115,p.E16K	protein_coding, processed_transcript	uc001fsk.3	nonsynonymous SNV	exon1	c.G46A	p.E16K	LFLLFEGLCCPGENTAAPQALQSYH	LFLLFEGLCCPGKNTAAPQALQSYH	1.0	8.0	unscreened	-	3713_1:158323824-158323824 G>A_LFLLFEGLCCPGKNTAAPQALQSYH
5:146257753-146257753 C>T	0.0	3713	MELANOMA	-	-	-	-	PPP2R2B	uc003log.5,p.G67E|NM_181675,p.G67E	protein_coding, processed_transcript, nonsense_mediated_decay	uc003log.5	nonsynonymous SNV	exon2	c.G200A	p.G67E	SRGTSTLIPARLGPWCSPTGSPAPL	SRGTSTLIPARLEPWCSPTGSPAPL	2.0	8.0	unscreened	-	3713_5:146257753-146257753 C>T_SRGTSTLIPARLEPWCSPTGSPAPL
1:94643219-94643219 C>T	1.0	3713	MELANOMA	-	-	-	-	ARHGAP29	uc001dqj.4,p.E952K|ENST00000260526,p.E952K|ENST00000552844,p.E952K|uc001dqk.3,p.E518K|NM_004815,p.E952K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001dqk.3	nonsynonymous SNV	exon10	c.G1552A	p.E518K	ESKIFERATSFEESERKQNALGKCD	ESKIFERATSFEKSERKQNALGKCD	3.0	3.0	-	-	3713_1:94643219-94643219 C>T_ESKIFERATSFEKSERKQNALGKCD
20:47991025-47991025 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1211424;OCCURENCE=1(large_intestine)	-	KCNB1	NM_004975,p.D358N|uc002xus.1,p.D358N|uc002xur.1,p.D358N|ENST00000371741,p.D358N	protein_coding	uc002xus.1	nonsynonymous SNV	exon3	c.G1072A	p.D358N	SSLVFFAEKDEDDTKFKSIPASFWW	SSLVFFAEKDEDNTKFKSIPASFWW	1.0	3.0	unscreened	-	3713_20:47991025-47991025 C>T_SSLVFFAEKDEDNTKFKSIPASFWW
10:70550998-70550998 C>T	1.0	3713	MELANOMA	-	-	-	-	CCAR1	ENST00000265872,p.S1143F|uc001joo.3,p.S1143F|NM_001282960,p.S1128F|ENST00000535016,p.S1128F|ENST00000543719,p.S1128F|NM_018237,p.S1143F|NM_001282959,p.S1128F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001joo.3	nonsynonymous SNV	exon25	c.C3428T	p.S1143F	KDNVKNEDKDQKSKENGASV	KDNVKNEDKDQKFKENGASV	7.0	4.0	unscreened	-	3713_10:70550998-70550998 C>T_KDNVKNEDKDQKFKENGASV
6:117232120-117232120 C>T	0.0	3713	MELANOMA	-	-	-	-	RFX6	ENST00000332958,p.S232L|NM_173560,p.S232L|uc003pxm.3,p.S232L	retained_intron, protein_coding, processed_transcript	uc003pxm.3	nonsynonymous SNV	exon7	c.C695T	p.S232L	KLKNEGGFTRKYSLSSKTGTLLPEF	KLKNEGGFTRKYLLSSKTGTLLPEF	1.0	6.0	unscreened	-	3713_6:117232120-117232120 C>T_KLKNEGGFTRKYLLSSKTGTLLPEF
1:162825512-162825512 C>T	0.0	3713	MELANOMA	-	-	-	-	C1orf110	uc009wux.1,p.G74E|ENST00000367911,p.G70E|ENST00000367912,p.G74E	retained_intron, protein_coding, processed_transcript	uc009wux.1	nonsynonymous SNV	exon3	c.G221A	p.G74E	QETMKKKFSSYLGNGFQKRPEDVLV	QETMKKKFSSYLENGFQKRPEDVLV	1.0	8.0	unscreened	-	3713_1:162825512-162825512 C>T_QETMKKKFSSYLENGFQKRPEDVLV
1:162825512-162825512 C>T	0.0	3713	MELANOMA	-	-	-	-	C1orf110	ENST00000367910,p.G75E|uc001gck.2,p.G75E|NM_178550,p.G75E	retained_intron, protein_coding, processed_transcript	uc001gck.2	nonsynonymous SNV	exon3	c.G224A	p.G75E	AETMKKKFSSYLGNGFQKRPEDVLV	AETMKKKFSSYLENGFQKRPEDVLV	1.0	8.0	unscreened	-	3713_1:162825512-162825512 C>T_AETMKKKFSSYLENGFQKRPEDVLV
7:101259573-101259573 C>T	0.0	3713	MELANOMA	-	-	-	-	MYL10	ENST00000223167,p.D154N|uc003uyr.3,p.D154N|NM_138403,p.D154N	protein_coding	uc003uyr.3	nonsynonymous SNV	exon6	c.G460A	p.D154N	FLTMFGEKLKGTDPEETILHAFKVF	FLTMFGEKLKGTNPEETILHAFKVF	1.0	5.0	unscreened	-	3713_7:101259573-101259573 C>T_FLTMFGEKLKGTNPEETILHAFKVF
5:146257753-146257753 C>T	0.0	3713	MELANOMA	-	-	-	-	PPP2R2B	NM_181674,p.G27E|ENST00000394414,p.G27E|uc003loh.5,p.G27E	protein_coding, processed_transcript, nonsense_mediated_decay	uc003loh.5	nonsynonymous SNV	exon2	c.G80A	p.G27E	HHPFFQLPHRRLGPWCSPTGSPAPL	HHPFFQLPHRRLEPWCSPTGSPAPL	2.0	8.0	unscreened	-	3713_5:146257753-146257753 C>T_HHPFFQLPHRRLEPWCSPTGSPAPL
2:131266447-131266447 C>T	0.0	3713	MELANOMA	-	-	-	-	POTEI	uc031rpa.1,p.G121E|NM_001277406,p.G121E|ENST00000451531,p.G121E	protein_coding	uc031rpa.1	nonsynonymous SNV	exon1	c.G362A	p.G121E	CRGSGKSNVGAWGDYDDSAFVEPRY	CRGSGKSNVGAWEDYDDSAFVEPRY	1.0	7.0	unscreened	-	3713_2:131266447-131266447 C>T_CRGSGKSNVGAWEDYDDSAFVEPRY
10:48370853-48370853 G>A	0.0	3713	MELANOMA	-	-	-	-	ZNF488	ENST00000494156,p.G72E	protein_coding	ENST00000494156	nonsynonymous SNV	exon3	c.G215A	p.G72E	AAVGRAPSRSCRG	AAVGRAPSRSCRE	1.0	9.0	unscreened	-	3713_10:48370853-48370853 G>A_AAVGRAPSRSCRE
2:198950348-198950348 G>A	0.0	3713	MELANOMA	-	-	-	-	PLCL1	ENST00000487695,p.E629K|uc010fsp.3,p.E703K|ENST00000428675,p.E703K|uc002uuv.4,p.E624K|ENST00000437704,p.E605K|NM_006226,p.E703K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010fsp.3	nonsynonymous SNV	exon2	c.G2107A	p.E703K	CGYVLRPSIMRDEVSYFSANTKGIL	CGYVLRPSIMRDKVSYFSANTKGIL	5.0	5.0	unscreened	-	3713_2:198950348-198950348 G>A_CGYVLRPSIMRDKVSYFSANTKGIL
17:34072046-34072046 C>T	0.0	3713	MELANOMA	-	-	-	-	GAS2L2	ENST00000254466,p.G824R|ENST00000587565,p.G808R|uc002hjv.2,p.G824R|NM_139285,p.G824R	protein_coding	uc002hjv.2	nonsynonymous SNV	exon6	c.G2470A	p.G824R	KDRLLRAVLGSKGGEASRVDGASVG	KDRLLRAVLGSKRGEASRVDGASVG	1.0	2.0	unscreened	-	3713_17:34072046-34072046 C>T_KDRLLRAVLGSKRGEASRVDGASVG
3:189691765-189691765 C>T	1.0	3713	MELANOMA	-	-	-	-	LEPREL1	NM_001134418,p.R313K|ENST00000427335,p.R313K|uc011bsk.2,p.R494K|NM_018192,p.R494K|uc003fsg.3,p.R313K|ENST00000319332,p.R494K	retained_intron, protein_coding	uc011bsk.2	nonsynonymous SNV	exon10	c.G1481A	p.R494K	VASGIMLVGDGYRGKTSPHTPNEKF	VASGIMLVGDGYKGKTSPHTPNEKF	2.0	2.0	-	-	3713_3:189691765-189691765 C>T_VASGIMLVGDGYKGKTSPHTPNEKF
1:12907971-12907971 C>T	0.0	3713	MELANOMA	-	-	ID=COSM228250;OCCURENCE=1(skin)	-	HNRNPCL1,HNRNPCL3,HNRNPCL4	uc010obf.2,p.D58N|uc009vno.2,p.D58N|ENST00000317869,p.D58N|NM_001146181,p.D58N|NM_001013631,p.D58N	protein_coding	uc010obf.2	nonsynonymous SNV	exon2	c.G172A	p.D58N	CSVHKGFAFVQYDKEKNARAAVAGE	CSVHKGFAFVQYNKEKNARAAVAGE	1.0	2.0	unscreened	-	3713_1:12907971-12907971 C>T_CSVHKGFAFVQYNKEKNARAAVAGE
14:58471473-58471473 C>T	0.0	3713	MELANOMA	-	-	-	-	C14orf37	uc001xdc.3,p.S769N|uc010tro.2,p.S807N|ENST00000267485,p.S769N|uc001xdd.3,p.S768N|NM_001001872,p.S769N	retained_intron, protein_coding, processed_transcript	uc010tro.2	nonsynonymous SNV	exon9	c.G2420A	p.S807N	NSMQDRVMLLADSSEDEF	NSMQDRVMLLADNSEDEF	3.0	2.0	unscreened	-	3713_14:58471473-58471473 C>T_NSMQDRVMLLADNSEDEF
7:94898015-94898015 G>A	0.0	3713	MELANOMA	-	-	-	-	PPP1R9A	ENST00000456331,p.R918K|uc003unq.3,p.R918K|uc010lfj.3,p.R940K|NM_001166160,p.R940K|ENST00000433360,p.R940K|ENST00000424654,p.R918K|NM_001166162,p.R918K	protein_coding	uc010lfj.3	nonsynonymous SNV	exon13	c.G2819A	p.R940K	SVSSTDGEDSLERKPSNSFYNHMHI	SVSSTDGEDSLEKKPSNSFYNHMHI	3.0	3.0	unscreened	-	3713_7:94898015-94898015 G>A_SVSSTDGEDSLEKKPSNSFYNHMHI
3:36779801-36779801 C>T	0.0	3713	MELANOMA	-	-	-	-	DCLK3	ENST00000416516,p.R117K|NM_033403,p.R117K|uc003cgi.2,p.R117K	protein_coding, processed_transcript	uc003cgi.2	nonsynonymous SNV	exon2	c.G350A	p.R117K	SSKPPREATLEERHARGEKHLGVEI	SSKPPREATLEEKHARGEKHLGVEI	1.0	2.0	unscreened	-	3713_3:36779801-36779801 C>T_SSKPPREATLEEKHARGEKHLGVEI
9:123908397-123908397 G>A	1.0	3713	MELANOMA	-	-	-	1	CNTRL	ENST00000373847,p.G556S|uc004bky.1,p.G712S|ENST00000373850,p.G556S|NM_007018,p.G1108S|uc004bla.1,p.G556S|ENST00000238341,p.G1108S|uc004bkx.1,p.G1108S|ENST00000373855,p.G1108S	protein_coding, processed_transcript	uc004bla.1	nonsynonymous SNV	exon12	c.G1666A	p.G556S	NVLDLTGSDNKGGFENVLEEIAELR	NVLDLTGSDNKGSFENVLEEIAELR	4.0	4.0	-	-	3713_9:123908397-123908397 G>A_NVLDLTGSDNKGSFENVLEEIAELR
8:57354484-57354484 C>T	0.0	3713	MELANOMA	-	-	ID=COSM229101;OCCURENCE=1(skin)	-	PENK	ENST00000518974,p.E51K|NM_006211,p.E51K|ENST00000314922,p.E51K|NM_001135690,p.E51K|uc003xsz.2,p.E51K|ENST00000451791,p.E51K|uc003xta.3,p.E51K	retained_intron, protein_coding, processed_transcript	uc003xta.3	nonsynonymous SNV	exon4	c.G151A	p.E51K	RPADINFLACVMECEGKLPSLKIWE	RPADINFLACVMKCEGKLPSLKIWE	1.0	4.0	unscreened	-	3713_8:57354484-57354484 C>T_RPADINFLACVMKCEGKLPSLKIWE
11:22363324-22363324 G>A	0.0	3713	MELANOMA	-	-	-	-	SLC17A6	uc001mqk.3,p.E113K|ENST00000263160,p.E113K|NM_020346,p.E113K	retained_intron, protein_coding	uc001mqk.3	nonsynonymous SNV	exon2	c.G337A	p.E113K	NSTIHRGGKVIKEKAKFNWDPETVG	NSTIHRGGKVIKKKAKFNWDPETVG	1.0	2.0	unscreened	-	3713_11:22363324-22363324 G>A_NSTIHRGGKVIKKKAKFNWDPETVG
5:95743988-95743988 T>A	0.0	3713	MELANOMA	-	-	-	-	PCSK1	NM_000439,p.T379S|ENST00000508626,p.T332S|uc010jbi.2,p.T69S|uc021ybq.1,p.T332S|uc003kls.2,p.T379S|NM_001177875,p.T332S|ENST00000311106,p.T379S	protein_coding, processed_transcript	uc021ybq.1	nonsynonymous SNV	exon9	c.A994T	p.T332S	SADLHNDCTETHTGTSASAPLAAGI	SADLHNDCTETHSGTSASAPLAAGI	1.0	8.0	unscreened	-	3713_5:95743988-95743988 T>A_SADLHNDCTETHSGTSASAPLAAGI
6:160240305-160240305 G>A	0.0	3713	MELANOMA	-	-	-	-	PNLDC1	uc003qsy.2,p.E485K|ENST00000275275,p.E474K|NM_001271862,p.E485K|NM_173516,p.E474K|ENST00000392167,p.E485K|uc003qsx.2,p.E474K	protein_coding	uc003qsy.2	nonsynonymous SNV	exon18	c.G1453A	p.E485K	TNKFKDARNILKEYRDHPTLCISLY	TNKFKDARNILKKYRDHPTLCISLY	1.0	3.0	unscreened	-	3713_6:160240305-160240305 G>A_TNKFKDARNILKKYRDHPTLCISLY
18:52555297-52555297 G>A	1.0	3713	MELANOMA	-	-	-	-	RAB27B	ENST00000262094,p.D139N|uc002lfr.3,p.D139N|NM_004163,p.D139N	protein_coding, processed_transcript	uc002lfr.3	nonsynonymous SNV	exon5	c.G415A	p.D139N	DIVLIGNKADLPDQREVNERQAREL	DIVLIGNKADLPNQREVNERQAREL	1.0	7.0	-	-	3713_18:52555297-52555297 G>A_DIVLIGNKADLPNQREVNERQAREL
1:151105565-151105565 C>T	1.0	3713	MELANOMA	-	-	-	-	SEMA6C	ENST00000341697,p.E730K|NM_030913,p.E730K|uc001ewu.3,p.E730K|ENST00000368913,p.E762K|ENST00000368914,p.E730K|NM_001178062,p.E722K|ENST00000368912,p.E722K|uc001ewv.3,p.E762K|uc001eww.3,p.E722K|NM_001178061,p.E762K	protein_coding, processed_transcript	uc001eww.3	nonsynonymous SNV	exon19	c.G2164A	p.E722K	PWEWNQNRNNAKEGPGRSRGGHAAG	PWEWNQNRNNAKKGPGRSRGGHAAG	3.0	2.0	unscreened	-	3713_1:151105565-151105565 C>T_PWEWNQNRNNAKKGPGRSRGGHAAG
3:168833264-168833264 C>T	1.0	3713	MELANOMA	-	-	-	1	MECOM	NM_001105078,p.G611E|ENST00000464456,p.G611E|ENST00000494292,p.G799E|uc003ffi.3,p.G611E|NM_001164000,p.G611E|ENST00000433243,p.G612E|uc011bpk.1,p.G611E|NM_001163999,p.G612E|uc010hwk.1,p.G634E|ENST00000392736,p.G611E|ENST00000460814,p.G611E|ENST00000472280,p.G612E|uc011bpj.1,p.G799E|uc010hwn.2,p.G799E|uc003ffn.3,p.G611E|ENST00000264674,p.G676E|NM_005241,p.G611E|NM_001205194,p.G611E|uc011bpi.1,p.G612E|NM_004991,p.G799E|uc003ffk.2,p.G611E|NM_001105077,p.G676E|ENST00000492586,p.G262E|uc003ffj.3,p.G676E|ENST00000468789,p.G611E|uc003ffl.2,p.G771E	retained_intron, protein_coding, processed_transcript	uc011bpk.1	nonsynonymous SNV	exon7	c.G1832A	p.G611E	KLTEPRKNHVFGGKKGSNVESRPAS	KLTEPRKNHVFGEKKGSNVESRPAS	2.0	2.0	-	-	3713_3:168833264-168833264 C>T_KLTEPRKNHVFGEKKGSNVESRPAS
8:94178978-94178978 T>C	0.0	3713	MELANOMA	-	-	-	-	C8orf87	uc003yft.1,p.T7A|ENST00000521906,p.T7A|NM_001242668,p.T7A	protein_coding	uc003yft.1	nonsynonymous SNV	exon1	c.A19G	p.T7A	MRTPKRTRSPKTKVSLRGE	MRTPKRARSPKTKVSLRGE	1.0	2.0	unscreened	-	3713_8:94178978-94178978 T>C_MRTPKRARSPKTKVSLRGE
1:3160669-3160669 G>A	0.0	3713	MELANOMA	-	-	-	1	PRDM16	ENST00000514189,p.E136K|ENST00000511072,p.E136K	protein_coding, processed_transcript	ENST00000514189	nonsynonymous SNV	exon3	c.G406A	p.E136K	TDFGWEQILTDVEVSPQEGCITKQI	TDFGWEQILTDVKVSPQEGCITKQI	1.0	3.0	unscreened	-	3713_1:3160669-3160669 G>A_TDFGWEQILTDVKVSPQEGCITKQI
1:3160669-3160669 G>A	0.0	3713	MELANOMA	-	-	-	1	PRDM16	ENST00000441472,p.E136K|NM_199454,p.E136K|ENST00000270722,p.E136K|ENST00000442529,p.E136K|ENST00000378398,p.E136K|NM_022114,p.E136K|uc001ake.3,p.E136K|ENST00000378391,p.E136K|uc001akf.3,p.E136K|uc001akc.3,p.E136K	protein_coding, processed_transcript	uc001akf.3	nonsynonymous SNV	exon3	c.G406A	p.E136K	TDFGWEQILTDVEVSPQEGCITKIS	TDFGWEQILTDVKVSPQEGCITKIS	1.0	3.0	unscreened	-	3713_1:3160669-3160669 G>A_TDFGWEQILTDVKVSPQEGCITKIS
17:38816339-38816339 C>T	0.0	3713	MELANOMA	-	-	-	-	KRT222	ENST00000476049,p.E116K|uc002hvc.2,p.E116K|uc002hvb.2,p.E76K|NM_152349,p.E116K|ENST00000394052,p.E116K|uc010cxc.3,p.E76K	protein_coding,nonsense_mediated_decay, nonsense_mediated_decay	uc010cxc.3	nonsynonymous SNV	exon3	c.G226A	p.E76K	LEKELQEVRRGIEKQLQEHEMLLNT	LEKELQEVRRGIKKQLQEHEMLLNT	1.0	8.0	unscreened	-	3713_17:38816339-38816339 C>T_LEKELQEVRRGIKKQLQEHEMLLNT
7:122341927-122341927 C>T	0.0	3713	MELANOMA	-	-	-	-	RNF148	NM_198085,p.R293K|ENST00000434824,p.R293K|uc003vkk.1,p.R293K	protein_coding	uc003vkk.1	nonsynonymous SNV	exon1	c.G878A	p.R293K	HKACIDPWLLAHRTCPMCKCDILKT	HKACIDPWLLAHKTCPMCKCDILKT	1.0	6.0	unscreened	-	3713_7:122341927-122341927 C>T_HKACIDPWLLAHKTCPMCKCDILKT
12:70048755-70048755 C>T	0.0	3713	MELANOMA	-	-	-	-	BEST3	ENST00000330891,p.E647K|NM_152439,p.E434K|NM_001282613,p.E541K|NM_032735,p.E647K|ENST00000553096,p.E541K|uc001svg.3,p.E647K|ENST00000488961,p.E434K|uc010stm.2,p.E541K|uc001svf.3,p.E434K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010stm.2	nonsynonymous SNV	exon8	c.G1621A	p.E541K	GSRVSSDMLYLMENLDTKETDIIEL	GSRVSSDMLYLMKNLDTKETDIIEL	1.0	3.0	unscreened	-	3713_12:70048755-70048755 C>T_GSRVSSDMLYLMKNLDTKETDIIEL
4:6066635-6066635 G>A	0.0	3713	MELANOMA	-	-	-	-	JAKMIP1	uc003giu.4,p.P468L|uc003giv.4,p.P468L|ENST00000409371,p.P283L|ENST00000282924,p.P468L|ENST00000410077,p.P303L|uc010idc.1,p.P283L|uc010idd.1,p.P468L|ENST00000473053,p.P468L|ENST00000409831,p.P468L|uc010ide.3,p.P468L|NM_144720,p.P468L|uc011bwc.2,p.P303L|ENST00000409021,p.P468L|NM_001099433,p.P468L|uc010idb.1,p.P468L	protein_coding, processed_transcript, nonsense_mediated_decay	uc011bwc.2	nonsynonymous SNV	exon8	c.C908T	p.P303L	ETSYNTDRTDRTPATPEEDLDDATA	ETSYNTDRTDRTLATPEEDLDDATA	1.0	3.0	unscreened	-	3713_4:6066635-6066635 G>A_ETSYNTDRTDRTLATPEEDLDDATA
4:20597363-20597363 G>A	1.0	3713	MELANOMA	-	-	ID=COSM108869;OCCURENCE=1(skin)	-	SLIT2	NM_004787,p.D1076N|ENST00000273739,p.D1089N|uc003gpr.1,p.D1076N|ENST00000504154,p.D1076N|NM_001289135,p.D1072N|NM_001289136,p.D1068N|ENST00000503837,p.D1072N|ENST00000503823,p.D1068N|uc003gps.1,p.D1068N	retained_intron, protein_coding, processed_transcript	uc003gps.1	nonsynonymous SNV	exon30	c.G3202A	p.D1068N	CTPGYVGEHCDIDFDDCQDNKCKNG	CTPGYVGEHCDINFDDCQDNKCKNG	3.0	6.0	-	-	3713_4:20597363-20597363 G>A_CTPGYVGEHCDINFDDCQDNKCKNG
2:73519172-73519172 C>T	0.0	3713	MELANOMA	-	-	-	-	EGR4	uc010yrj.2,p.G395R|NM_001965,p.G395R|uc010yrk.1,p.G394R|ENST00000436467,p.G292R|ENST00000545030,p.G395R	protein_coding	uc010yrk.1	nonsynonymous SNV	exon2	c.G1180A	p.G394R	AEGLPGLLTPPSGEGGSSGDGGEFL	AEGLPGLLTPPSREGGSSGDGGEFL	1.0	8.0	unscreened	-	3713_2:73519172-73519172 C>T_AEGLPGLLTPPSREGGSSGDGGEFL
5:146257753-146257753 C>T	0.0	3713	MELANOMA	-	-	-	-	PPP2R2B	ENST00000394409,p.G19E|uc011dbv.3,p.G19E|NM_001271900,p.G19E	protein_coding, processed_transcript, nonsense_mediated_decay	uc011dbv.3	nonsynonymous SNV	exon3	c.G56A	p.G19E	ERHYRDWNHRRLGPWCSPTGSPAPL	ERHYRDWNHRRLEPWCSPTGSPAPL	2.0	8.0	unscreened	-	3713_5:146257753-146257753 C>T_ERHYRDWNHRRLEPWCSPTGSPAPL
2:179639101-179639101 C>T	0.0	3713	MELANOMA	-	-	-	-	TTN	ENST00000342992,p.G2297E|uc021vtb.2,p.G2251E|uc031rqd.1,p.G2297E|NM_003319,p.G2251E|ENST00000359218,p.G2251E|uc031rqc.1,p.G2297E|NM_133379,p.G2297E|NM_001256850,p.G2297E|ENST00000589042,p.G2297E|uc021vsz.2,p.G2251E|NM_133432,p.G2251E|NM_133437,p.G2251E|uc021vsy.2,p.G2297E|ENST00000591111,p.G2297E|ENST00000342175,p.G2251E|ENST00000360870,p.G2297E|NM_133378,p.G2297E|ENST00000460472,p.G2251E|uc021vta.2,p.G2251E|uc002unb.3,p.G2297E|NM_001267550,p.G2297E	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon30	c.G6890A	p.G2297E	ELECIVSPENIEGKWYHNDVELKSN	ELECIVSPENIEEKWYHNDVELKSN	1.0	5.0	unscreened	-	3713_2:179639101-179639101 C>T_ELECIVSPENIEEKWYHNDVELKSN
3:164725746-164725746 G>T	0.0	3713	MELANOMA	-	-	-	-	SI	NM_001041,p.T1407N|uc003fei.3,p.T1407N|ENST00000264382,p.T1407N	retained_intron, protein_coding, nonsense_mediated_decay	uc003fei.3	nonsynonymous SNV	exon36	c.C4220A	p.T1407N	MNEPSSFVNGTTTNQCRNDELNYPP	MNEPSSFVNGTTNNQCRNDELNYPP	1.0	8.0	unscreened	-	3713_3:164725746-164725746 G>T_MNEPSSFVNGTTNNQCRNDELNYPP
12:49436929-49436929 A>C	1.0	3713	MELANOMA	-	-	-	1	KMT2D	ENST00000301067,p.S1858R|uc001rta.4,p.S1858R|NM_003482,p.S1858R	retained_intron, protein_coding, processed_transcript	uc001rta.4	nonsynonymous SNV	exon25	c.T5574G	p.S1858R	PEDGGVKASPVPSDPEKPGTPGEGM	PEDGGVKASPVPRDPEKPGTPGEGM	9.0	8.0	-	-	3713_12:49436929-49436929 A>C_PEDGGVKASPVPRDPEKPGTPGEGM
9:33319002-33319002 C>T	1.0	3713	MELANOMA	-	-	-	-	NFX1	uc003zsp.2,p.P595S|uc010mjr.2,p.P595S|NM_147133,p.P595S|ENST00000379540,p.P595S|uc003zsr.3,p.P595S|NM_147134,p.P595S|uc003zso.3,p.P595S|ENST00000379521,p.P595S|uc003zsq.3,p.P595S|uc011lnw.2,p.P595S|NM_002504,p.P595S|ENST00000318524,p.P595S	protein_coding, processed_transcript	uc011lnw.2	nonsynonymous SNV	exon9	c.C1783T	p.P595S	QCPRLPQLVRCCPCGQTPLSQLLEL	QCPRLPQLVRCCSCGQTPLSQLLEL	9.0	3.0	unscreened	-	3713_9:33319002-33319002 C>T_QCPRLPQLVRCCSCGQTPLSQLLEL
16:20996951-20996951 A>C	0.0	3713	MELANOMA	-	-	-	-	DNAH3	ENST00000261383,p.S2371R|NM_017539,p.S2371R|uc010vbe.2,p.S2371R	retained_intron, protein_coding, processed_transcript	uc010vbe.2	nonsynonymous SNV	exon48	c.T7113G	p.S2371R	RSLFFGDYFKPESDQKIYDEITDLK	RSLFFGDYFKPERDQKIYDEITDLK	1.0	2.0	unscreened	-	3713_16:20996951-20996951 A>C_RSLFFGDYFKPERDQKIYDEITDLK
19:43680066-43680066 C>T	1.0	3713	MELANOMA	-	-	-	-	PSG5	ENST00000366175,p.R222Q|ENST00000404580,p.R222Q|uc002ovx.3,p.R222Q|NM_001130014,p.R222Q|NM_002781,p.R222Q|ENST00000407356,p.R222Q|ENST00000342951,p.R222Q|ENST00000599812,p.R315Q|uc002ovu.3,p.R222Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ovx.3	nonsynonymous SNV	exon3	c.G665A	p.R222Q	NETGPYECEIRDRDGGMRSDPVTLN	NETGPYECEIRDQDGGMRSDPVTLN	1.0	3.0	-	-	3713_19:43680066-43680066 C>T_NETGPYECEIRDQDGGMRSDPVTLN
6:84270588-84270588 C>T	0.0	3713	MELANOMA	-	-	-	-	SNAP91	NM_014841,p.G841R|ENST00000369694,p.G841R|ENST00000521743,p.G841R|NM_001256718,p.G717R|uc021zcf.1,p.G841R|NM_001256717,p.G750R|NM_001242794,p.G534R|ENST00000520213,p.G534R|ENST00000428679,p.G841R|NM_001242793,p.G811R|NM_001242792,p.G841R|uc003pkd.3,p.G534R|ENST00000521485,p.G836R|ENST00000437520,p.G534R|ENST00000520302,p.G811R|uc003pkc.3,p.G811R|ENST00000195649,p.G836R|uc003pkb.3,p.G750R|ENST00000523448,p.G182R|ENST00000439399,p.G841R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zcf.1	nonsynonymous SNV	exon26	c.G2521A	p.G841R	GAPSVGQPGAGFGMPPAGTGMPMMP	GAPSVGQPGAGFRMPPAGTGMPMMP	1.0	4.0	unscreened	-	3713_6:84270588-84270588 C>T_GAPSVGQPGAGFRMPPAGTGMPMMP
14:60212773-60212773 T>C	1.0	3713	MELANOMA	-	-	-	-	RTN1	ENST00000267484,p.K223R|uc001xen.1,p.K223R|NM_021136,p.K223R	retained_intron, protein_coding, processed_transcript	uc001xen.1	nonsynonymous SNV	exon2	c.A668G	p.K223R	HHPELEDKDLDFKNKDTDISIKPEG	HHPELEDKDLDFRNKDTDISIKPEG	4.0	2.0	unscreened	-	3713_14:60212773-60212773 T>C_HHPELEDKDLDFRNKDTDISIKPEG
1:207105085-207105085 C>T	0.0	3713	MELANOMA	-	-	-	-	PIGR	uc001hez.3,p.E691K|ENST00000356495,p.E691K|NM_002644,p.E691K|uc009xbz.3,p.E691K	protein_coding, processed_transcript	uc009xbz.3	nonsynonymous SNV	exon10	c.G2071A	p.E691K	TDISMSDFENSREFGANDNMGASSI	TDISMSDFENSRKFGANDNMGASSI	1.0	3.0	unscreened	-	3713_1:207105085-207105085 C>T_TDISMSDFENSRKFGANDNMGASSI
12:4736815-4736815 C>T	1.0	3713	MELANOMA	0.0005	-	-	-	AKAP3	NM_006422,p.R418Q|uc031qfv.1,p.R418Q|ENST00000228850,p.R418Q|ENST00000545990,p.R418Q|NM_001278309,p.R418Q|uc001qnb.4,p.R418Q	protein_coding, processed_transcript	uc031qfv.1	nonsynonymous SNV	exon5	c.G1253A	p.R418Q	LISMKGMGDPKNRNVNFAMKSETKL	LISMKGMGDPKNQNVNFAMKSETKL	3.0	5.0	unscreened	-	3713_12:4736815-4736815 C>T_LISMKGMGDPKNQNVNFAMKSETKL
5:150051207-150051207 G>A	0.0	3713	MELANOMA	-	-	-	-	MYOZ3	NM_001122853,p.G89R|ENST00000297130,p.G89R|ENST00000517768,p.G89R|NM_133371,p.G89R|uc003lsr.3,p.G89R|uc003lss.3,p.G89R	retained_intron, protein_coding, processed_transcript	uc003lss.3	nonsynonymous SNV	exon4	c.G265A	p.G89R	SARRKVTGTAESGTVANANGPEGPN	SARRKVTGTAESRTVANANGPEGPN	1.0	4.0	unscreened	-	3713_5:150051207-150051207 G>A_SARRKVTGTAESRTVANANGPEGPN
2:168107333-168107333 C>T	0.0	3713	MELANOMA	-	-	-	-	XIRP2	ENST00000295237,p.S3144F|ENST00000409195,p.S3144F|NM_001199144,p.S2922F|ENST00000409273,p.S2922F|NM_152381,p.S3144F|uc010fpq.3,p.S2922F|uc002udy.3,p.S2969F|uc002udx.3,p.S3144F	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.C8765T	p.S2922F	RTENPTKNELSQSPKKDSYVEPPPR	RTENPTKNELSQFPKKDSYVEPPPR	1.0	7.0	unscreened	-	3713_2:168107333-168107333 C>T_RTENPTKNELSQFPKKDSYVEPPPR
1:176913059-176913059 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1183824;OCCURENCE=1(large_intestine)	-	ASTN1	uc001glb.1,p.S782L|uc001gld.1,p.S782L|NM_207108,p.S782L|NM_001286164,p.S782L|ENST00000367654,p.S790L|ENST00000367657,p.S782L|uc001glc.3,p.S782L|uc009wwx.1,p.S782L|NM_004319,p.S782L|ENST00000361833,p.S782L|ENST00000424564,p.S782L	protein_coding, processed_transcript	uc009wwx.1	nonsynonymous SNV	exon14	c.C2345T	p.S782L	TVPLENQCLEEISEPTPDPDFLTGM	TVPLENQCLEEILEPTPDPDFLTGM	1.0	5.0	unscreened	-	3713_1:176913059-176913059 G>A_TVPLENQCLEEILEPTPDPDFLTGM
5:36039597-36039597 G>A	0.0	3713	MELANOMA	-	-	-	-	UGT3A2	ENST00000513300,p.P319S|ENST00000282507,p.P353S|NM_001168316,p.P319S|NM_174914,p.P353S|ENST00000545528,p.P51S|uc003jjz.2,p.P353S|uc011cos.2,p.P319S|uc011cot.2,p.P51S	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cot.2	nonsynonymous SNV	exon4	c.C151T	p.P51S	HLAANVKIVDWLPQSDLLAHPSIRL	HLAANVKIVDWLSQSDLLAHPSIRL	1.0	3.0	unscreened	-	3713_5:36039597-36039597 G>A_HLAANVKIVDWLSQSDLLAHPSIRL
13:52952190-52952190 G>A	0.0	3713	MELANOMA	-	-	-	-	THSD1	ENST00000349258,p.P586S|uc001vgo.3,p.P639S|ENST00000544466,p.P260S|ENST00000258613,p.P639S|uc010tgz.2,p.P260S|uc001vgp.3,p.P586S|NM_199263,p.P586S|NM_018676,p.P639S	protein_coding	uc010tgz.2	nonsynonymous SNV	exon3	c.C778T	p.P260S	KSQARHVGSRGGPSERSHARNAHFR	KSQARHVGSRGGSSERSHARNAHFR	2.0	2.0	unscreened	-	3713_13:52952190-52952190 G>A_KSQARHVGSRGGSSERSHARNAHFR
1:173493950-173493950 T>A	0.0	3713	MELANOMA	-	-	-	-	SLC9C2	uc001giz.2,p.I828F|ENST00000367714,p.I828F|NM_178527,p.I828F|uc009wwe.2,p.I386F	protein_coding, processed_transcript	uc009wwe.2	nonsynonymous SNV	exon13	c.A1156T	p.I386F	LKNLTFLCSRGIIDKHEVIEINKVL	LKNLTFLCSRGIFDKHEVIEINKVL	1.0	6.0	unscreened	-	3713_1:173493950-173493950 T>A_LKNLTFLCSRGIFDKHEVIEINKVL
1:196874267-196874267 G>A	0.0	3713	MELANOMA	-	-	-	-	CFHR4	NM_001201550,p.E96K|ENST00000367416,p.E95K|uc001gtp.3,p.E96K|uc009wyy.3,p.E95K|NM_001201551,p.E95K	protein_coding	uc009wyy.3	nonsynonymous SNV	exon3	c.G283A	p.E95K	CLRTCSKSDVEIENGFISESSSIYI	CLRTCSKSDVEIKNGFISESSSIYI	1.0	8.0	unscreened	-	3713_1:196874267-196874267 G>A_CLRTCSKSDVEIKNGFISESSSIYI
3:18462393-18462393 G>A	0.0	3713	MELANOMA	-	-	ID=COSM226063;OCCURENCE=1(NS)	-	SATB1	uc003cbi.3,p.P23S|uc003cbh.3,p.P23S|uc003cbj.3,p.P23S|ENST00000440737,p.P23S|ENST00000452260,p.P23S|ENST00000457005,p.P23S|NM_001195470,p.P23S|ENST00000444341,p.P23S|ENST00000417717,p.P23S|ENST00000493952,p.P23S|NM_001131010,p.P23S|ENST00000338745,p.P23S|ENST00000414509,p.P23S|ENST00000454909,p.P23S|ENST00000415069,p.P23S|NM_002971,p.P23S	retained_intron, protein_coding	uc003cbj.3	nonsynonymous SNV	exon2	c.C67T	p.P23S	KEHSEMSNNVSDPKGPPAKIARLEQ	KEHSEMSNNVSDSKGPPAKIARLEQ	4.0	8.0	unscreened	-	3713_3:18462393-18462393 G>A_KEHSEMSNNVSDSKGPPAKIARLEQ
6:144095294-144095294 C>T	1.0	3713	MELANOMA	-	-	-	-	PHACTR2	uc010khi.3,p.R511C|uc010khh.3,p.R420C|ENST00000440869,p.R511C|ENST00000427704,p.R500C|NM_001100164,p.R511C|ENST00000367584,p.R488C|ENST00000305766,p.R420C|NM_001100165,p.R431C|uc003qjr.4,p.R431C|NM_001100166,p.R420C|uc003qjq.4,p.R500C|ENST00000367582,p.R431C|NM_014721,p.R500C	retained_intron, protein_coding	uc010khi.3	nonsynonymous SNV	exon8	c.C1531T	p.R511C	SKKELEDKNILQRTSEEERQEIRQQ	SKKELEDKNILQCTSEEERQEIRQQ	3.0	2.0	unscreened	-	3713_6:144095294-144095294 C>T_SKKELEDKNILQCTSEEERQEIRQQ
1:89597854-89597854 G>A	0.0	3713	MELANOMA	-	-	-	-	GBP7	uc001dna.2,p.P632L|ENST00000294671,p.P632L|NM_207398,p.P632L	protein_coding	uc001dna.2	nonsynonymous SNV	exon11	c.C1895T	p.P632L	KILSSLCNRLRNPGKKIIS	KILSSLCNRLRNLGKKIIS	1.0	3.0	unscreened	-	3713_1:89597854-89597854 G>A_KILSSLCNRLRNLGKKIIS
19:23159561-23159561 C>T	0.0	3713	MELANOMA	-	-	-	-	ZNF728	NM_001267716,p.R193K|ENST00000594710,p.R193K|uc002nqz.2,p.R193K	protein_coding	uc002nqz.2	nonsynonymous SNV	exon4	c.G578A	p.R193K	SFCMLSHLSQHKRIYTRENSYKSEE	SFCMLSHLSQHKKIYTRENSYKSEE	1.0	3.0	unscreened	-	3713_19:23159561-23159561 C>T_SFCMLSHLSQHKKIYTRENSYKSEE
20:43836161-43836161 G>A	0.0	3713	MELANOMA	-	-	-	-	SEMG1	uc002xni.2,p.D75N|ENST00000372781,p.D75N|uc002xnj.2,p.D75N|ENST00000244069,p.D75N|NM_003007,p.D75N	protein_coding	uc002xnj.2	nonsynonymous SNV	exon2	c.G223A	p.D75N	FSIQYTYHVDANDHDQSRKSQQYDL	FSIQYTYHVDANNHDQSRKSQQYDL	1.0	2.0	unscreened	-	3713_20:43836161-43836161 G>A_FSIQYTYHVDANNHDQSRKSQQYDL
Y:23702551-23702551 G>A	0.0	3713	MELANOMA	-	-	-	-	RBMY1A1,RBMY1B,RBMY1D	NM_001006121,p.R94Q|NM_005058,p.R94Q|ENST00000303902,p.R94Q|ENST00000382707,p.R94Q|uc010nxa.3,p.R94Q|NM_001006120,p.R94Q|uc011nbd.2,p.R59Q|uc004fuq.4,p.R94Q	protein_coding, nonsense_mediated_decay	uc011nbd.2	nonsynonymous SNV	exon5	c.G176A	p.R59Q	QAKKPSFQSGGRRRPPASSRNRSPS	QAKKPSFQSGGRQRPPASSRNRSPS	1.0	2.0	unscreened	-	3713_Y:23702551-23702551 G>A_QAKKPSFQSGGRQRPPASSRNRSPS
14:63174617-63174617 C>T	0.0	3713	MELANOMA	-	-	-	-	KCNH5	NM_139318,p.R859K|ENST00000322893,p.R859K|uc001xfx.3,p.R859K	protein_coding	uc001xfx.3	nonsynonymous SNV	exon11	c.G2576A	p.R859K	SDSENSVTKNPLRKTDSCDSGITKS	SDSENSVTKNPLKKTDSCDSGITKS	1.0	2.0	unscreened	-	3713_14:63174617-63174617 C>T_SDSENSVTKNPLKKTDSCDSGITKS
1:75602828-75602828 C>T	0.0	3713	MELANOMA	-	-	-	-	LHX8	uc031pmx.1,p.S40L|NM_001001933,p.S50L|NM_001256114,p.S40L|uc001dgo.3,p.S50L|ENST00000294638,p.S50L|ENST00000356261,p.S40L|uc021oou.1,p.S50L	protein_coding	uc031pmx.1	nonsynonymous SNV	exon3	c.C119T	p.S40L	PEGAGDEDSCSSSAPLSPSSSPRSM	PEGAGDEDSCSSLAPLSPSSSPRSM	1.0	2.0	unscreened	-	3713_1:75602828-75602828 C>T_PEGAGDEDSCSSLAPLSPSSSPRSM
2:171243707-171243707 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1009432,COSM1009431;OCCURENCE=1(endometrium)	-	MYO3B	NM_001083615,p.S489L|uc002ufy.3,p.S489L|ENST00000317935,p.S489L|ENST00000409044,p.S489L|uc002ufz.3,p.S489L|ENST00000484338,p.S498L|uc002ufv.4,p.S489L|ENST00000334231,p.S498L|NM_138995,p.S489L|ENST00000408978,p.S489L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ufz.3	nonsynonymous SNV	exon14	c.C1466T	p.S489L	AFGNSCTAINDNSSRFGKYLEMMFT	AFGNSCTAINDNLSRFGKYLEMMFT	1.0	4.0	unscreened	-	3713_2:171243707-171243707 C>T_AFGNSCTAINDNLSRFGKYLEMMFT
16:31408726-31408726 G>A	0.0	3713	MELANOMA	-	-	-	-	ITGAD	uc010cap.1,p.G62R|ENST00000389202,p.G62R|NM_005353,p.G62R|uc002ebv.1,p.G62R|uc010vfl.1,p.G62R	retained_intron, protein_coding	uc010vfl.1	nonsynonymous SNV	exon3	c.G184A	p.G62R	GAPLEVVAANQTGRLYDCAAATGMC	GAPLEVVAANQTRRLYDCAAATGMC	1.0	6.0	unscreened	-	3713_16:31408726-31408726 G>A_GAPLEVVAANQTRRLYDCAAATGMC
18:40503618-40503618 C>T	0.0	3713	MELANOMA	-	-	-	-	RIT2	ENST00000590910,p.S136N	retained_intron, protein_coding	ENST00000590910	nonsynonymous SNV	exon5	c.G407A	p.S136N	TVNHFRRLPSLKSSFFRSATPMKFP	TVNHFRRLPSLKNSFFRSATPMKFP	1.0	7.0	unscreened	-	3713_18:40503618-40503618 C>T_TVNHFRRLPSLKNSFFRSATPMKFP
13:76397747-76397747 G>A	1.0	3713	MELANOMA	-	-	-	-	LMO7	ENST00000341547,p.R614K|uc010thw.2,p.R513K|ENST00000377534,p.R948K|uc001vjw.1,p.R569K|ENST00000526202,p.R513K|ENST00000357063,p.R948K|uc021rkq.1,p.R896K|NM_005358,p.R614K|uc010thv.2,p.R614K|ENST00000377499,p.R562K|ENST00000465261,p.R663K|uc001vjt.1,p.R562K|NM_015842,p.R663K|ENST00000321797,p.R663K|uc001vjv.3,p.R663K	retained_intron, protein_coding, processed_transcript	uc021rkq.1	nonsynonymous SNV	exon15	c.G2687A	p.R896K	AWKYNGDVEDIKRTPNNVVSTPAPS	AWKYNGDVEDIKKTPNNVVSTPAPS	5.0	8.0	-	-	3713_13:76397747-76397747 G>A_AWKYNGDVEDIKKTPNNVVSTPAPS
2:179589005-179589005 C>T	0.0	3713	MELANOMA	-	-	-	-	TTN	ENST00000591111,p.A6716T|uc031rqc.1,p.A7033T|uc021vsy.2,p.A5789T|uc002umz.1,p.A2450T|uc031rqd.1,p.A6716T|NM_001267550,p.A7033T|NM_001256850,p.A6716T|NM_133378,p.A5789T|ENST00000342992,p.A5789T|ENST00000589042,p.A7033T	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon70	c.G20146A	p.A6716T	QVQNNVGKSSCTAVVDVSDRAVPPS	QVQNNVGKSSCTTVVDVSDRAVPPS	1.0	5.0	unscreened	-	3713_2:179589005-179589005 C>T_QVQNNVGKSSCTTVVDVSDRAVPPS
11:119056890-119056890 C>T	0.0	3713	MELANOMA	-	-	-	-	PDZD3	ENST00000531114,p.P7S|ENST00000525131,p.P7S|uc001pwb.3,p.P7S|uc010rzd.2,p.P7S|ENST00000392817,p.P7S	retained_intron, protein_coding, nonsense_mediated_decay	uc010rzd.2	nonsynonymous SNV	exon3	c.C19T	p.P7S	MVTPSPPGNHSLSLEAPRL	MVTPSPSGNHSLSLEAPRL	1.0	8.0	unscreened	-	3713_11:119056890-119056890 C>T_MVTPSPSGNHSLSLEAPRL
9:116956726-116956726 G>A	1.0	3713	MELANOMA	-	-	ID=COSM170416;OCCURENCE=1(large_intestine)	-	COL27A1	uc011lxl.2,p.D687N|NM_032888,p.D687N|ENST00000356083,p.D687N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lxl.2	nonsynonymous SNV	exon6	c.G2059A	p.D687N	KGDPGLSPGKAHDGAKGDMGLPGLS	KGDPGLSPGKAHNGAKGDMGLPGLS	3.0	8.0	-	-	3713_9:116956726-116956726 G>A_KGDPGLSPGKAHNGAKGDMGLPGLS
11:17656444-17656444 C>T	0.0	3713	MELANOMA	-	-	-	-	OTOG	NM_001292063,p.R2512C|NM_001277269,p.R2524C|ENST00000399397,p.R2451C|ENST00000399391,p.R2524C|uc031pzc.1,p.R2524C	retained_intron, protein_coding, processed_transcript	uc031pzc.1	nonsynonymous SNV	exon44	c.C7570T	p.R2524C	CEGLAPTCRPGHRLLTHFQEDSCCP	CEGLAPTCRPGHCLLTHFQEDSCCP	1.0	5.0	unscreened	-	3713_11:17656444-17656444 C>T_CEGLAPTCRPGHCLLTHFQEDSCCP
6:65301607-65301607 G>A	0.0	3713	MELANOMA	-	-	-	-	EYS	ENST00000370616,p.P1385S|ENST00000503581,p.P1385S|uc011dxu.1,p.P1385S|NM_001142800,p.P1385S|NM_001292009,p.P1385S|uc011dxt.1,p.P297S|ENST00000370621,p.P1385S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxu.1	nonsynonymous SNV	exon26	c.C4153T	p.P1385S	IRTSAATLGFFFPDRRARTPFIMSS	IRTSAATLGFFFSDRRARTPFIMSS	1.0	6.0	unscreened	-	3713_6:65301607-65301607 G>A_IRTSAATLGFFFSDRRARTPFIMSS
16:66945091-66945091 C>T	0.0	3713	MELANOMA	-	-	-	-	CDH16	NM_001204745,p.D640N|uc021tjx.1,p.D640N|ENST00000565796,p.D640N	protein_coding, nonsense_mediated_decay	uc021tjx.1	nonsynonymous SNV	exon14	c.G1918A	p.D640N	PGDTYTVLVEAQDTDHGLIVSGPSK	PGDTYTVLVEAQNTDHGLIVSGPSK	1.0	4.0	unscreened	-	3713_16:66945091-66945091 C>T_PGDTYTVLVEAQNTDHGLIVSGPSK
3:121132150-121132150 G>A	0.0	3713	MELANOMA	-	-	-	-	STXBP5L	NM_014980,p.E1056K|ENST00000471262,p.E999K|uc011bji.2,p.E1032K|ENST00000471454,p.E1032K|ENST00000273666,p.E1056K|uc003eec.4,p.E1056K	protein_coding, nonsense_mediated_decay	uc011bji.2	nonsynonymous SNV	exon24	c.G3094A	p.E1032K	SPTEIQRLTYSQEMCDNLQDMLGDL	SPTEIQRLTYSQKMCDNLQDMLGDL	1.0	4.0	unscreened	-	3713_3:121132150-121132150 G>A_SPTEIQRLTYSQKMCDNLQDMLGDL
4:70160520-70160520 G>A	0.0	3713	MELANOMA	-	-	-	-	UGT2B28	NM_053039,p.R528K|uc003hej.3,p.R528K|ENST00000335568,p.R528K	protein_coding	uc003hej.3	nonsynonymous SNV	exon6	c.G1583A	p.R528K	FWKFARKGKKGKRD	FWKFARKGKKGKKD	1.0	9.0	unscreened	-	3713_4:70160520-70160520 G>A_FWKFARKGKKGKKD
2:179438654-179438654 C>T	0.0	3713	MELANOMA	-	-	-	-	TTN	NM_133437,p.E15196K|uc021vsy.2,p.E21501K|NM_133432,p.E15129K|NM_003319,p.E15004K|NM_001256850,p.E22428K|ENST00000591111,p.E22428K|ENST00000359218,p.E15129K|ENST00000342175,p.E15196K|uc021vtb.2,p.E15004K|uc031rqd.1,p.E22428K|NM_133378,p.E21501K|uc021vsz.2,p.E15196K|ENST00000342992,p.E21501K|NM_001267550,p.E24069K|ENST00000589042,p.E24069K|uc021vta.2,p.E15129K|ENST00000460472,p.E15004K|uc031rqc.1,p.E24069K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon276	c.G67282A	p.E22428K	PPPTMEWSKDGKELEGTAKLEIKIA	PPPTMEWSKDGKKLEGTAKLEIKIA	1.0	3.0	unscreened	-	3713_2:179438654-179438654 C>T_PPPTMEWSKDGKKLEGTAKLEIKIA
16:3085488-3085488 G>A	0.0	3713	MELANOMA	-	-	-	-	CCDC64B	uc002ctf.4,p.P4S|NM_001103175,p.P4S|ENST00000572449,p.P4S|ENST00000389347,p.P4S	retained_intron, protein_coding	uc002ctf.4	nonsynonymous SNV	exon1	c.C10T	p.P4S	MSSPDGPSFPSGPLSG	MSSSDGPSFPSGPLSG	1.0	7.0	unscreened	-	3713_16:3085488-3085488 G>A_MSSSDGPSFPSGPLSG
3:151056270-151056270 G>A	0.0	3713	MELANOMA	-	-	-	-	P2RY12	ENST00000302632,p.R122C|NM_176876,p.R122C|NM_022788,p.R122C|uc021xga.1,p.R122C|uc003eyw.1,p.R122C|uc003eyx.1,p.R122C	retained_intron, protein_coding	uc021xga.1	nonsynonymous SNV	exon1	c.C364T	p.R122C	ISISFLGLITIDRYQKTTRPFKTSN	ISISFLGLITIDCYQKTTRPFKTSN	4.0	4.0	unscreened	-	3713_3:151056270-151056270 G>A_ISISFLGLITIDCYQKTTRPFKTSN
7:94898592-94898592 C>T	0.0	3713	MELANOMA	-	-	-	-	PPP1R9A	NM_001166162,p.P944L|uc010lfj.3,p.P966L|ENST00000424654,p.P944L|ENST00000433360,p.P966L|uc003unr.3,p.P17L|ENST00000456331,p.P944L|NM_001166160,p.P966L|uc003unq.3,p.P944L	protein_coding	uc010lfj.3	nonsynonymous SNV	exon14	c.C2897T	p.P966L	KLLPPKGLRTSSPESDSGVPPLTPV	KLLPPKGLRTSSLESDSGVPPLTPV	3.0	6.0	unscreened	-	3713_7:94898592-94898592 C>T_KLLPPKGLRTSSLESDSGVPPLTPV
7:94898592-94898592 C>T	0.0	3713	MELANOMA	-	-	-	-	PPP1R9A	uc011kif.2,p.P926L|NM_001166161,p.P926L|ENST00000289495,p.P926L	protein_coding	uc011kif.2	nonsynonymous SNV	exon12	c.C2777T	p.P926L	DSLERKGLRTSSPESDSGVPPLTPV	DSLERKGLRTSSLESDSGVPPLTPV	3.0	6.0	unscreened	-	3713_7:94898592-94898592 C>T_DSLERKGLRTSSLESDSGVPPLTPV
9:115805286-115805286 C>T	0.0	3713	MELANOMA	-	-	-	-	ZFP37	uc004bgm.1,p.V538I|ENST00000553380,p.V553I|ENST00000555206,p.V539I|NM_001282515,p.V553I|NM_001282518,p.V539I|NM_003408,p.V538I|ENST00000374227,p.V538I|uc011lxa.1,p.V539I|uc011lwz.1,p.V553I	protein_coding	uc011lxa.1	nonsynonymous SNV	exon4	c.G1615A	p.V539I	FKQIEGLTQHQRVHTGEKPYECNEC	FKQIEGLTQHQRIHTGEKPYECNEC	1.0	3.0	unscreened	-	3713_9:115805286-115805286 C>T_FKQIEGLTQHQRIHTGEKPYECNEC
14:105268109-105268109 T>C	1.0	3713	MELANOMA	-	-	-	-	ZBTB42	uc001ypp.3,p.L192S|ENST00000342537,p.L192S|NM_001137601,p.L192S|uc021sem.1,p.L192S|ENST00000555360,p.L192S	protein_coding	uc021sem.1	nonsynonymous SNV	exon1	c.T575C	p.L192S	VPEESDQALDLSLKSGPRQERVHPP	VPEESDQALDLSSKSGPRQERVHPP	4.0	2.0	unscreened	-	3713_14:105268109-105268109 T>C_VPEESDQALDLSSKSGPRQERVHPP
3:21552458-21552458 C>T	0.0	3713	MELANOMA	-	-	-	-	ZNF385D	ENST00000281523,p.E112K|NM_024697,p.E112K|uc003cce.3,p.E112K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003cce.3	nonsynonymous SNV	exon4	c.G334A	p.E112K	KGTKHAKKLKALEAMKNKQKSVTAK	KGTKHAKKLKALKAMKNKQKSVTAK	1.0	2.0	unscreened	-	3713_3:21552458-21552458 C>T_KGTKHAKKLKALKAMKNKQKSVTAK
7:144062310-144062310 G>A	0.0	3713	MELANOMA	-	-	ID=COSM3411751;OCCURENCE=1(central_nervous_system)	-	ARHGEF5	ENST00000056217,p.E850K|uc003wel.3,p.E850K|uc003wek.3,p.E850K|NM_005435,p.E850K	protein_coding	uc003wel.3	nonsynonymous SNV	exon2	c.G2548A	p.E850K	PLPPLPIIDPPTEPPPLPPKSRGRS	PLPPLPIIDPPTKPPPLPPKSRGRS	1.0	2.0	unscreened	-	3713_7:144062310-144062310 G>A_PLPPLPIIDPPTKPPPLPPKSRGRS
21:15013756-15013756 G>A	0.0	3713	MELANOMA	-	-	-	-	POTED	ENST00000299443,p.E542K|uc002yjb.1,p.E542K|NM_174981,p.E542K	protein_coding	uc002yjb.1	nonsynonymous SNV	exon11	c.G1624A	p.E542K	QEEIAMLRLELDETKHQNQLRENKI	QEEIAMLRLELDKTKHQNQLRENKI	1.0	8.0	unscreened	-	3713_21:15013756-15013756 G>A_QEEIAMLRLELDKTKHQNQLRENKI
20:46331274-46331274 C>T	0.0	3713	MELANOMA	-	-	-	-	SULF2	ENST00000484875,p.D186N|NM_001161841,p.D186N|ENST00000359930,p.D186N|ENST00000467815,p.D186N|uc002xtq.3,p.D186N|uc002xto.3,p.D186N|uc002xtr.3,p.D186N|NM_018837,p.D186N|ENST00000361612,p.D186N|NM_198596,p.D186N|uc010ghv.1,p.D186N	retained_intron, protein_coding, processed_transcript	uc010ghv.1	nonsynonymous SNV	exon4	c.G556A	p.D186N	LCRNGVKEKHGSDYSKDYLTDLITN	LCRNGVKEKHGSNYSKDYLTDLITN	7.0	3.0	unscreened	-	3713_20:46331274-46331274 C>T_LCRNGVKEKHGSNYSKDYLTDLITN
10:61926352-61926352 C>T	0.0	3713	MELANOMA	-	-	-	-	ANK3	ENST00000503366,p.E854K|uc010qih.2,p.E854K|NM_001204404,p.E854K|ENST00000474360,p.E45K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qih.2	nonsynonymous SNV	exon23	c.G2560A	p.E854K	MLSDGEYISDVEEGNRCTWYKIPKV	MLSDGEYISDVEKGNRCTWYKIPKV	4.0	6.0	unscreened	-	3713_10:61926352-61926352 C>T_MLSDGEYISDVEKGNRCTWYKIPKV
10:116227957-116227957 G>A	0.0	3713	MELANOMA	-	-	-	-	ABLIM1	NM_001003407,p.P372S|ENST00000392952,p.P144S|NM_001003408,p.P400S|uc021pyx.1,p.P432S|uc021pzc.1,p.P83S|ENST00000369252,p.P372S|uc021pzf.1,p.P394S|ENST00000440467,p.P97S|ENST00000533213,p.P372S|ENST00000369266,p.P144S|uc021pyy.1,p.P400S|uc021pzb.1,p.P109S|ENST00000428430,p.P116S|uc021pze.1,p.P356S|uc021pza.1,p.P372S|uc021pzd.1,p.P280S|NM_002313,p.P432S|uc021pyu.1,p.P144S|ENST00000277895,p.P432S|ENST00000369253,p.P90S|ENST00000392955,p.P372S|ENST00000369256,p.P400S|NM_006720,p.P144S|uc021pyw.1,p.P432S	protein_coding, processed_transcript	uc021pzf.1	nonsynonymous SNV	exon12	c.C1180T	p.P394S	RQSLGESPRTLSPTPSAEGYQDVRD	RQSLGESPRTLSSTPSAEGYQDVRD	5.0	7.0	unscreened	-	3713_10:116227957-116227957 G>A_RQSLGESPRTLSSTPSAEGYQDVRD
3:193039476-193039476 C>T	0.0	3713	MELANOMA	-	-	-	-	ATP13A5	NM_198505,p.E637K|ENST00000342358,p.E637K|uc011bsq.2,p.E637K	retained_intron, protein_coding, processed_transcript	uc011bsq.2	nonsynonymous SNV	exon16	c.G1909A	p.E637K	GAPEMVARFCRSETVPKNFPQELRS	GAPEMVARFCRSKTVPKNFPQELRS	1.0	3.0	unscreened	-	3713_3:193039476-193039476 C>T_GAPEMVARFCRSKTVPKNFPQELRS
7:99972056-99972056 G>A	1.0	3713	MELANOMA	-	-	-	-	PILRA	uc011kjo.2,p.G152S|ENST00000453419,p.G152S|NM_178272,p.G152S|uc003uup.1,p.G152S|ENST00000350573,p.G152S	retained_intron, protein_coding, processed_transcript	uc011kjo.2	nonsynonymous SNV	exon2	c.G454A	p.G152S	QSIEGTKLSITQGQQRTKATTPARE	QSIEGTKLSITQSQQRTKATTPARE	7.0	8.0	unscreened	-	3713_7:99972056-99972056 G>A_QSIEGTKLSITQSQQRTKATTPARE
10:53822391-53822391 G>A	0.0	3713	MELANOMA	-	-	-	-	PRKG1	NM_001098512,p.G297E|ENST00000373985,p.G285E|uc001jjm.3,p.G297E|ENST00000373980,p.G312E|ENST00000401604,p.G297E|uc001jjo.3,p.G312E|NM_006258,p.G312E	protein_coding	uc001jjo.3	nonsynonymous SNV	exon7	c.G935A	p.G312E	GKGDWFGEKALQGEDVRTANVIAAE	GKGDWFGEKALQEEDVRTANVIAAE	1.0	5.0	unscreened	-	3713_10:53822391-53822391 G>A_GKGDWFGEKALQEEDVRTANVIAAE
7:102967057-102967057 G>A	1.0	3713	MELANOMA	-	-	-	-	DNAJC2	uc010lix.3,p.P169S|uc003vbo.3,p.P169S|ENST00000379263,p.P169S|ENST00000454277,p.P95S|NM_014377,p.P169S|NM_001129887,p.P169S|ENST00000249270,p.P169S	retained_intron, protein_coding, nonsense_mediated_decay	uc010lix.3	nonsynonymous SNV	exon5	c.C505T	p.P169S	FNSVDPTFDNSVPSKSEAKDNFFEV	FNSVDPTFDNSVSSKSEAKDNFFEV	7.0	8.0	-	-	3713_7:102967057-102967057 G>A_FNSVDPTFDNSVSSKSEAKDNFFEV
16:21716590-21716590 G>A	0.0	3713	MELANOMA	-	-	-	-	OTOA	ENST00000388957,p.G37S|ENST00000388956,p.G282S|NM_170664,p.G37S|NM_001161683,p.G282S|NM_144672,p.G361S|uc002dji.3,p.G37S|ENST00000286149,p.G375S|uc002djh.3,p.G361S|ENST00000388958,p.G361S|uc010vbj.2,p.G282S	retained_intron, protein_coding, processed_transcript	uc010vbj.2	nonsynonymous SNV	exon7	c.G844A	p.G282S	LLYQMIKCSHLRGFQAGVQKLKAEL	LLYQMIKCSHLRSFQAGVQKLKAEL	1.0	5.0	unscreened	-	3713_16:21716590-21716590 G>A_LLYQMIKCSHLRSFQAGVQKLKAEL
X:107840284-107840284 C>T	1.0	3713	MELANOMA	-	-	-	-	COL4A5	uc004eob.1,p.P133S|uc004enz.2,p.P525S|ENST00000328300,p.P525S|uc022ccg.2,p.P525S|NM_000495,p.P525S|ENST00000361603,p.P525S	retained_intron, protein_coding, processed_transcript	uc022ccg.2	nonsynonymous SNV	exon23	c.C1573T	p.P525S	QKGEKGQAGATGPKGLPGIPGAPGA	QKGEKGQAGATGSKGLPGIPGAPGA	2.0	8.0	unscreened	-	3713_X:107840284-107840284 C>T_QKGEKGQAGATGSKGLPGIPGAPGA
20:61461001-61461001 G>A	1.0	3713	MELANOMA	-	-	-	-	COL9A3	ENST00000343916,p.E359K|uc002ydm.3,p.E359K|NM_001853,p.E359K	retained_intron, protein_coding, processed_transcript	uc002ydm.3	nonsynonymous SNV	exon21	c.G1075A	p.E359K	EKGERGRAGELGEAGPSGEPGVPGD	EKGERGRAGELGKAGPSGEPGVPGD	7.0	3.0	unscreened	-	3713_20:61461001-61461001 G>A_EKGERGRAGELGKAGPSGEPGVPGD
1:43205662-43205662 T>A	0.0	3713	MELANOMA	-	-	-	-	CLDN19	uc001chu.2,p.T25S|NM_001123395,p.T25S|ENST00000539749,p.T25S|ENST00000372539,p.T25S|uc010ojv.1,p.T25S|NM_001185117,p.T25S|NM_148960,p.T25S|uc001cht.1,p.T25S|ENST00000296387,p.T25S	protein_coding	uc010ojv.1	nonsynonymous SNV	exon1	c.A73T	p.T25S	LALGGWVGIIASTALPQWKQSSYAG	LALGGWVGIIASSALPQWKQSSYAG	1.0	5.0	unscreened	-	3713_1:43205662-43205662 T>A_LALGGWVGIIASSALPQWKQSSYAG
11:7111361-7111361 C>T	0.0	3713	MELANOMA	-	-	-	-	RBMXL2	NM_014469,p.S337L|uc001mfc.2,p.S337L|ENST00000306904,p.S337L	protein_coding	uc001mfc.2	nonsynonymous SNV	exon1	c.C1010T	p.S337L	SYSSSYGRSDRYSRGRHRVGRPDRG	SYSSSYGRSDRYLRGRHRVGRPDRG	1.0	7.0	unscreened	-	3713_11:7111361-7111361 C>T_SYSSSYGRSDRYLRGRHRVGRPDRG
1:216243634-216243634 G>A	0.0	3713	MELANOMA	-	-	-	-	USH2A	ENST00000366943,p.A1953V|uc001hku.1,p.A1953V|ENST00000307340,p.A1953V|NM_206933,p.A1953V	retained_intron, protein_coding	uc001hku.1	nonsynonymous SNV	exon30	c.C5858T	p.A1953V	YSDWSRGRTTGAAPQSVPTPSRVRS	YSDWSRGRTTGAVPQSVPTPSRVRS	1.0	4.0	unscreened	-	3713_1:216243634-216243634 G>A_YSDWSRGRTTGAVPQSVPTPSRVRS
1:160460023-160460023 G>A	0.0	3713	MELANOMA	-	-	ID=COSM137789;OCCURENCE=1(skin)	-	SLAMF6	uc001fwe.2,p.S254F|ENST00000368055,p.S143F|uc010pji.2,p.S143F|ENST00000368057,p.S254F|NM_001184716,p.S143F|NM_001184714,p.S254F	protein_coding	uc010pji.2	nonsynonymous SNV	exon4	c.C428T	p.S143F	ILLLLVLRKRRDSLSLSTQRTQGPA	ILLLLVLRKRRDFLSLSTQRTQGPA	6.0	7.0	unscreened	-	3713_1:160460023-160460023 G>A_ILLLLVLRKRRDFLSLSTQRTQGPA
1:160460023-160460023 G>A	0.0	3713	MELANOMA	-	-	ID=COSM137789;OCCURENCE=1(skin)	-	SLAMF6	NM_001184715,p.S205F|NM_052931,p.S254F|uc001fwd.2,p.S254F|uc010pjh.2,p.S205F|ENST00000368059,p.S254F	protein_coding	uc010pjh.2	nonsynonymous SNV	exon5	c.C614T	p.S205F	ILLLLVLRKRRDSLSLSTQRTQGPE	ILLLLVLRKRRDFLSLSTQRTQGPE	6.0	7.0	unscreened	-	3713_1:160460023-160460023 G>A_ILLLLVLRKRRDFLSLSTQRTQGPE
1:160460023-160460023 G>A	0.0	3713	MELANOMA	-	-	ID=COSM137789;OCCURENCE=1(skin)	-	SLAMF6	uc010pjj.2,p.S143F	protein_coding	uc010pjj.2	nonsynonymous SNV	exon4	c.C428T	p.S143F	ILLLLVLRKRRDSLSLSTQRTQGPG	ILLLLVLRKRRDFLSLSTQRTQGPG	6.0	7.0	unscreened	-	3713_1:160460023-160460023 G>A_ILLLLVLRKRRDFLSLSTQRTQGPG
20:61525538-61525538 G>A	1.0	3713	MELANOMA	-	-	-	-	DIDO1	ENST00000395343,p.P861S|uc002yds.2,p.P861S|ENST00000395335,p.P861S|uc002ydr.2,p.P861S|NM_080797,p.P861S|NM_033081,p.P861S|ENST00000266070,p.P861S|uc002ydt.2,p.P861S|NM_001193370,p.P861S|NM_001193369,p.P861S|uc002ydu.2,p.P861S|ENST00000395340,p.P861S	protein_coding	uc002ydu.2	nonsynonymous SNV	exon12	c.C2581T	p.P861S	FDLNCKICTGQVPSAEDEPAPKKQK	FDLNCKICTGQVSSAEDEPAPKKQK	9.0	4.0	-	-	3713_20:61525538-61525538 G>A_FDLNCKICTGQVSSAEDEPAPKKQK
3:99513914-99513914 G>A	1.0	3713	MELANOMA	-	-	-	-	COL8A1	NM_020351,p.G390E|uc003dtg.2,p.G390E|ENST00000273342,p.G390E|uc003dti.1,p.G391E|ENST00000261037,p.G390E|uc003dth.2,p.G390E|NM_001850,p.G390E	protein_coding, processed_transcript	uc003dti.1	nonsynonymous SNV	exon3	c.G1172A	p.G391E	GPIGAPGIGGPPGEPGLPGIPGPMG	GPIGAPGIGGPPEEPGLPGIPGPMG	7.0	7.0	-	-	3713_3:99513914-99513914 G>A_GPIGAPGIGGPPEEPGLPGIPGPMG
2:218940386-218940386 C>T	0.0	3713	MELANOMA	-	-	-	-	RUFY4	ENST00000344321,p.P391S|ENST00000374155,p.P411S|uc002vgw.3,p.P218S|NM_198483,p.P391S|uc010fvl.2,p.P391S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fvl.2	nonsynonymous SNV	exon9	c.C1171T	p.P391S	GHATKEDSTVENPQVQTEVTLVARR	GHATKEDSTVENSQVQTEVTLVARR	2.0	7.0	unscreened	-	3713_2:218940386-218940386 C>T_GHATKEDSTVENSQVQTEVTLVARR
1:68895527-68895527 C>T	0.0	3713	MELANOMA	-	-	-	-	RPE65	uc001dei.1,p.E512K|ENST00000262340,p.E512K|NM_000329,p.E512K	protein_coding	uc001dei.1	nonsynonymous SNV	exon14	c.G1534A	p.E512K	AYLLILNAKDLSEVARAEVEINIPV	AYLLILNAKDLSKVARAEVEINIPV	1.0	4.0	unscreened	-	3713_1:68895527-68895527 C>T_AYLLILNAKDLSKVARAEVEINIPV
1:206231006-206231006 T>G	0.0	3713	MELANOMA	-	-	-	-	AVPR1B	NM_000707,p.L380R|ENST00000367126,p.L380R|uc001hds.2,p.L380R	protein_coding	uc001hds.2	nonsynonymous SNV	exon2	c.T1139G	p.L380R	SDGSLSSRHTTLLTRSSCPATLSLS	SDGSLSSRHTTLRTRSSCPATLSLS	1.0	5.0	unscreened	-	3713_1:206231006-206231006 T>G_SDGSLSSRHTTLRTRSSCPATLSLS
13:103390185-103390185 C>T	0.0	3713	MELANOMA	-	-	-	-	CCDC168	uc001vpm.3,p.G4288R|NM_001146197,p.G4288R	protein_coding,antisense	uc001vpm.3	nonsynonymous SNV	exon4	c.G12862A	p.G4288R	SLTHYILDTRIEGEEDQQGIIRPGI	SLTHYILDTRIEREEDQQGIIRPGI	1.0	8.0	unscreened	-	3713_13:103390185-103390185 C>T_SLTHYILDTRIEREEDQQGIIRPGI
22:50547183-50547183 G>A	0.0	3713	MELANOMA	-	-	-	-	MOV10L1	NM_001164104,p.R218Q|uc011arp.2,p.R198Q|uc003bjj.3,p.R218Q|NM_018995,p.R218Q|uc003bjk.4,p.R218Q|ENST00000395858,p.R218Q|NM_001164105,p.R198Q|ENST00000262794,p.R218Q|ENST00000545383,p.R218Q|ENST00000540615,p.R198Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc011arp.2	nonsynonymous SNV	exon5	c.G593A	p.R198Q	LDSLKLPDGYTPRRGDVVNAVVVES	LDSLKLPDGYTPQRGDVVNAVVVES	1.0	8.0	unscreened	-	3713_22:50547183-50547183 G>A_LDSLKLPDGYTPQRGDVVNAVVVES
5:149574314-149574314 G>A	0.0	3713	MELANOMA	-	-	-	-	SLC6A7	ENST00000524041,p.M19I|uc003lrr.3,p.M19I|NM_014228,p.M19I|ENST00000230671,p.M19I	retained_intron, protein_coding	uc003lrr.3	nonsynonymous SNV	exon2	c.G57A	p.M19I	AHLRKPVTPDLLMTPSDQGDVDLDV	AHLRKPVTPDLLITPSDQGDVDLDV	1.0	4.0	unscreened	-	3713_5:149574314-149574314 G>A_AHLRKPVTPDLLITPSDQGDVDLDV
20:56137269-56137269 G>A	0.0	3713	MELANOMA	-	-	-	-	PCK1	ENST00000319441,p.E123K|NM_002591,p.E123K|uc002xyn.4,p.E123K	retained_intron, protein_coding	uc002xyn.4	nonsynonymous SNV	exon3	c.G367A	p.E123K	SQLGRWMSEEDFEKAFNARFPGCMK	SQLGRWMSEEDFKKAFNARFPGCMK	1.0	5.0	unscreened	-	3713_20:56137269-56137269 G>A_SQLGRWMSEEDFKKAFNARFPGCMK
3:130286953-130286953 G>A	0.0	3713	MELANOMA	-	-	-	-	COL6A6	ENST00000358511,p.E636K|NM_001102608,p.E636K|uc010htl.3,p.E636K|ENST00000453409,p.E636K	protein_coding, nonsense_mediated_decay	uc010htl.3	nonsynonymous SNV	exon5	c.G1906A	p.E636K	MFLVDSSGSIGPENFSKMKTFMKNL	MFLVDSSGSIGPKNFSKMKTFMKNL	2.0	2.0	unscreened	-	3713_3:130286953-130286953 G>A_MFLVDSSGSIGPKNFSKMKTFMKNL
12:4554697-4554697 C>T	0.0	3713	MELANOMA	-	-	-	-	FGF6	uc001qmr.1,p.G14R|NM_020996,p.G14R|ENST00000228837,p.G14R	protein_coding, processed_transcript	uc001qmr.1	nonsynonymous SNV	exon1	c.G40A	p.G14R	ALGQKLFITMSRGAGRLQGTLWALV	ALGQKLFITMSRRAGRLQGTLWALV	1.0	7.0	unscreened	-	3713_12:4554697-4554697 C>T_ALGQKLFITMSRRAGRLQGTLWALV
10:25887628-25887628 G>A	0.0	3713	MELANOMA	-	-	-	-	GPR158	uc001isj.3,p.V1025I|ENST00000376351,p.V1025I|NM_020752,p.V1025I|uc001isk.3,p.V400I	protein_coding, processed_transcript	uc001isk.3	nonsynonymous SNV	exon3	c.G1198A	p.V400I	DLTPGPVPSESKVQKHVSIVASEME	DLTPGPVPSESKIQKHVSIVASEME	1.0	6.0	unscreened	-	3713_10:25887628-25887628 G>A_DLTPGPVPSESKIQKHVSIVASEME
12:100934551-100934551 C>T	0.0	3713	MELANOMA	-	-	-	-	NR1H4	NM_001206993,p.P355S|uc001thr.2,p.P345S|uc001tht.2,p.P355S|uc001thp.2,p.P341S|NM_001206978,p.P294S|NM_001206977,p.P345S|ENST00000551379,p.P355S|ENST00000188403,p.P351S|uc010svk.2,p.P294S|ENST00000392986,p.P345S|ENST00000549996,p.P294S|uc001thq.2,p.P345S|NM_001206979,p.P345S|NM_001206992,p.P351S|uc001ths.2,p.P351S|NM_005123,p.P341S|ENST00000548884,p.P341S	protein_coding, nonsense_mediated_decay	uc010svk.2	nonsynonymous SNV	exon8	c.C880T	p.P294S	FLRSAEIFNKKLPSGHSDLLEERIR	FLRSAEIFNKKLSSGHSDLLEERIR	1.0	5.0	unscreened	-	3713_12:100934551-100934551 C>T_FLRSAEIFNKKLSSGHSDLLEERIR
8:144776275-144776275 C>T	0.0	3713	MELANOMA	-	-	-	-	ZNF707	ENST00000532205,p.P231S|ENST00000532158,p.P231S|uc003yze.4,p.P231S|uc003yzh.4,p.P158S|NM_001288805,p.P231S|ENST00000454097,p.P231S|ENST00000358656,p.P231S|uc010mfh.3,p.P231S|NM_173831,p.P231S|NM_001100598,p.P231S|NM_001100599,p.P231S|ENST00000418203,p.P231S|NM_001288806,p.P231S|NM_001288808,p.P195S|NM_001288809,p.P195S|uc010mfi.3,p.P231S|uc003yzf.4,p.P231S|NM_001288807,p.P158S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010mfi.3	nonsynonymous SNV	exon5	c.C691T	p.P231S	LQRHQKNHTREKPFCCEACGQAFSL	LQRHQKNHTREKSFCCEACGQAFSL	4.0	3.0	-	-	3713_8:144776275-144776275 C>T_LQRHQKNHTREKSFCCEACGQAFSL
7:63538268-63538268 G>A	0.0	3713	MELANOMA	-	-	-	-	ZNF727	NM_001159522,p.E281K|uc011kdm.2,p.E281K|ENST00000550760,p.E281K	protein_coding	uc011kdm.2	nonsynonymous SNV	exon4	c.G841A	p.E281K	SDLTKHKRIHTGEKPYKCKECHKAF	SDLTKHKRIHTGKKPYKCKECHKAF	1.0	2.0	unscreened	-	3713_7:63538268-63538268 G>A_SDLTKHKRIHTGKKPYKCKECHKAF
1:223568198-223568198 G>A	0.0	3713	MELANOMA	-	-	-	-	CCDC185	ENST00000366875,p.E461K|uc001hoa.2,p.E461K|NM_152610,p.E461K	protein_coding	uc001hoa.2	nonsynonymous SNV	exon1	c.G1381A	p.E461K	QLSLEQSFQRSQEIHQGLRKERQRE	QLSLEQSFQRSQKIHQGLRKERQRE	1.0	4.0	unscreened	-	3713_1:223568198-223568198 G>A_QLSLEQSFQRSQKIHQGLRKERQRE
5:11364957-11364957 G>A	0.0	3713	MELANOMA	-	-	-	2	CTNND2	uc003jfa.1,p.P408L|uc010itt.2,p.P317L|NM_001288716,p.P71L|uc011cmy.1,p.P71L|NM_001332,p.P408L|NM_001288715,p.P317L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cmy.1	nonsynonymous SNV	exon5	c.C212T	p.P71L	RASYSSQHGHLGPELRALQSPEHHI	RASYSSQHGHLGLELRALQSPEHHI	1.0	5.0	unscreened	-	3713_5:11364957-11364957 G>A_RASYSSQHGHLGLELRALQSPEHHI
2:173679124-173679124 G>A	0.0	3713	MELANOMA	-	-	-	-	RAPGEF4	uc002uhu.2,p.E139K|ENST00000397081,p.E139K|uc002uhv.4,p.E139K|NM_007023,p.E139K|ENST00000264111,p.E139K|ENST00000409036,p.E139K	retained_intron, protein_coding, processed_transcript	uc002uhv.4	nonsynonymous SNV	exon4	c.G415A	p.E139K	IVTRESSELLRIEQKDFKALWEKYR	IVTRESSELLRIKQKDFKALWEKYR	1.0	6.0	unscreened	-	3713_2:173679124-173679124 G>A_IVTRESSELLRIKQKDFKALWEKYR
6:117591717-117591717 C>T	0.0	3713	MELANOMA	-	-	-	-	VGLL2	uc003pxn.3,p.P135S|ENST00000326274,p.P135S|NM_182645,p.P135S	protein_coding	uc003pxn.3	nonsynonymous SNV	exon3	c.C403T	p.P135S	PRSSGPWRDCSFPMSQRSFPASFWN	PRSSGPWRDCSFSMSQRSFPASFWN	1.0	5.0	unscreened	-	3713_6:117591717-117591717 C>T_PRSSGPWRDCSFSMSQRSFPASFWN
2:179401251-179401251 G>A	0.0	3713	MELANOMA	-	-	-	-	TTN	uc031rqc.1,p.S33408F|NM_001256850,p.S31767F|ENST00000342175,p.S24535F|NM_001267550,p.S33408F|uc021vta.2,p.S24468F|NM_133437,p.S24535F|ENST00000591111,p.S31767F|ENST00000359218,p.S24468F|uc021vtb.2,p.S24343F|uc021vsz.2,p.S24535F|NM_003319,p.S24343F|NM_133432,p.S24468F|ENST00000460472,p.S24343F|ENST00000342992,p.S30840F|uc021vsy.2,p.S30840F|uc031rqd.1,p.S31767F|NM_133378,p.S30840F	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon307	c.C95300T	p.S31767F	PGKPTITAVTKDSCVVAWKPPASDG	PGKPTITAVTKDFCVVAWKPPASDG	1.0	5.0	unscreened	-	3713_2:179401251-179401251 G>A_PGKPTITAVTKDFCVVAWKPPASDG
2:36726454-36726454 G>A	1.0	3713	MELANOMA	-	-	-	-	CRIM1	uc002rpd.3,p.D489N|ENST00000280527,p.D489N|NM_016441,p.D489N	retained_intron, protein_coding, processed_transcript	uc002rpd.3	nonsynonymous SNV	exon8	c.G1465A	p.D489N	LTGKDCINGFKRDHNGCRTCQCINT	LTGKDCINGFKRNHNGCRTCQCINT	5.0	8.0	-	-	3713_2:36726454-36726454 G>A_LTGKDCINGFKRNHNGCRTCQCINT
1:171123307-171123307 G>A	0.0	3713	MELANOMA	-	-	-	-	FMO6P	ENST00000236166,p.E404K|uc001ghj.1,p.E261K	protein_coding, processed_transcript, nonsense_mediated_decay	uc001ghj.1	nonsynonymous SNV	exon6	c.G781A	p.E261K	VFANSCTLPTTNEMMDDTDEKMGKK	VFANSCTLPTTNKMMDDTDEKMGKK	1.0	5.0	unscreened	-	3713_1:171123307-171123307 G>A_VFANSCTLPTTNKMMDDTDEKMGKK
14:69814759-69814759 G>A	0.0	3713	MELANOMA	-	-	-	-	GALNT16	uc001xla.2,p.E527K|ENST00000553669,p.E527K|ENST00000553471,p.E527K	protein_coding, processed_transcript, nonsense_mediated_decay	uc001xla.2	nonsynonymous SNV	exon14	c.G1579A	p.E527K	SLLASGPEAQQPEGPCLRVADLGRR	SLLASGPEAQQPKGPCLRVADLGRR	1.0	4.0	unscreened	-	3713_14:69814759-69814759 G>A_SLLASGPEAQQPKGPCLRVADLGRR
X:155003900-155003900 C>T	1.0	3713	MELANOMA	-	-	-	-	SPRY3	uc022cio.1,p.P123S|NM_005840,p.P123S|uc004fnq.1,p.P123S|ENST00000302805,p.P123S	protein_coding	uc022cio.1	nonsynonymous SNV	exon1	c.C367T	p.P123S	SIIRTQPGAGVHPKADGALKGEAEQ	SIIRTQPGAGVHSKADGALKGEAEQ	1.0	8.0	unscreened	-	3713_X:155003900-155003900 C>T_SIIRTQPGAGVHSKADGALKGEAEQ
16:22151487-22151487 G>A	0.0	3713	MELANOMA	-	-	-	-	VWA3A	uc010vbq.2,p.D769N|NM_173615,p.D769N|ENST00000389398,p.D769N	retained_intron, protein_coding, nonsense_mediated_decay	uc010vbq.2	nonsynonymous SNV	exon23	c.G2305A	p.D769N	TVPLGARMSIKDDPDREKSPPLKSL	TVPLGARMSIKDNPDREKSPPLKSL	1.0	2.0	unscreened	-	3713_16:22151487-22151487 G>A_TVPLGARMSIKDNPDREKSPPLKSL
4:42553247-42553247 C>T	0.0	3713	MELANOMA	-	-	-	-	ATP8A1	uc003gws.2,p.G509R|uc011byz.1,p.G509R|NM_001105529,p.G509R|ENST00000264449,p.G509R|ENST00000381668,p.G524R|uc003gwr.2,p.G524R|NM_006095,p.G524R	retained_intron, protein_coding, nonsense_mediated_decay	uc011byz.1	nonsynonymous SNV	exon17	c.G1525A	p.G509R	VRAAKQLNFVFTGRTPDSVIIDSLG	VRAAKQLNFVFTRRTPDSVIIDSLG	4.0	4.0	unscreened	-	3713_4:42553247-42553247 C>T_VRAAKQLNFVFTRRTPDSVIIDSLG
12:113321105-113321105 A>T	0.0	3713	MELANOMA	-	-	-	-	RPH3A	NM_014954,p.K441M|uc010sym.2,p.K396M|ENST00000415485,p.K445M|uc010syl.2,p.K445M|NM_001143854,p.K445M|ENST00000551052,p.K441M|uc001ttz.3,p.K445M|uc009zwe.1,p.K441M|ENST00000543106,p.K445M|uc001tty.3,p.K441M|ENST00000420983,p.K445M|ENST00000447659,p.K396M|uc001tua.3,p.K205M|ENST00000548866,p.K396M|ENST00000389385,p.K445M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sym.2	nonsynonymous SNV	exon14	c.A1187T	p.K396M	KLHLLPGASKSNKLRTKTLRNTRNP	KLHLLPGASKSNMLRTKTLRNTRNP	1.0	6.0	unscreened	-	3713_12:113321105-113321105 A>T_KLHLLPGASKSNMLRTKTLRNTRNP
3:77666828-77666828 T>C	0.0	3713	MELANOMA	-	-	-	2	ROBO2	NM_001290039,p.L1157P|ENST00000461745,p.L1153P|ENST00000487694,p.L1169P|uc003dpz.3,p.L1157P|NM_001290065,p.L560P|uc003dqa.3,p.L280P|NM_002942,p.L1153P|uc011bgj.3,p.L560P|uc011bgk.2,p.L1157P|uc003dpy.4,p.L1153P|uc021xat.1,p.L1169P|ENST00000332191,p.L1153P|NM_001290040,p.L1157P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xat.1	nonsynonymous SNV	exon22	c.T3506C	p.L1169P	PAISFGQQSTATLTPSPREEMQPML	PAISFGQQSTATPTPSPREEMQPML	1.0	8.0	unscreened	-	3713_3:77666828-77666828 T>C_PAISFGQQSTATPTPSPREEMQPML
8:55372098-55372098 C>T	0.0	3713	MELANOMA	-	rs62642516	-	-	SOX17	ENST00000297316,p.P263L|uc003xsb.4,p.P263L|NM_022454,p.P263L	protein_coding	uc003xsb.4	nonsynonymous SNV	exon2	c.C788T	p.P263L	YSYAQVSDYAGPPEPPAGPMHPRLG	YSYAQVSDYAGPLEPPAGPMHPRLG	1.0	8.0	unscreened	-	3713_8:55372098-55372098 C>T_YSYAQVSDYAGPLEPPAGPMHPRLG
11:22276994-22276994 G>A	0.0	3713	MELANOMA	-	-	ID=COSM40695;OCCURENCE=1(central_nervous_system)	-	ANO5	ENST00000324559,p.E420K|uc001mqj.2,p.E419K|NM_001142649,p.E419K|uc001mqi.2,p.E420K|NM_213599,p.E420K	protein_coding, processed_transcript	uc001mqj.2	nonsynonymous SNV	exon13	c.G1255A	p.E419K	LEYEWDLVDFEEEQQQLQLRPEFEA	LEYEWDLVDFEEKQQQLQLRPEFEA	1.0	3.0	unscreened	-	3713_11:22276994-22276994 G>A_LEYEWDLVDFEEKQQQLQLRPEFEA
10:19641056-19641056 G>A	0.0	3713	MELANOMA	-	-	-	-	MALRD1	NM_001142308,p.R1424Q|ENST00000377266,p.R733Q|ENST00000454679,p.R720Q	protein_coding, processed_transcript	NM_001142308	nonsynonymous SNV	exon26	c.G4271A	p.R1424Q	LLNLTVEQGNFWRREELSLFGDEDF	LLNLTVEQGNFWQREELSLFGDEDF	1.0	3.0	unscreened	-	3713_10:19641056-19641056 G>A_LLNLTVEQGNFWQREELSLFGDEDF
3:46755840-46755840 C>T	0.0	3713	MELANOMA	-	-	-	-	PRSS50	ENST00000460241,p.G208S|uc003cqf.2,p.G122S|uc003cqe.1,p.G208S|ENST00000315170,p.G208S|NM_013270,p.G208S	protein_coding	uc003cqf.2	nonsynonymous SNV	exon6	c.G364A	p.G122S	RFWSWVGQANDIGLLKLKQELKYSN	RFWSWVGQANDISLLKLKQELKYSN	1.0	7.0	unscreened	-	3713_3:46755840-46755840 C>T_RFWSWVGQANDISLLKLKQELKYSN
9:421042-421042 G>A	0.0	3713	MELANOMA	-	-	-	-	DOCK8	uc010mgu.3,p.G675R|uc003zgf.2,p.G1373R|NM_001193536,p.G1305R|ENST00000432829,p.G1305R|NM_001190458,p.G1273R|NM_203447,p.G1373R|ENST00000469391,p.G1273R|uc022bcu.1,p.G1305R|ENST00000382329,p.G840R|uc003zgk.2,p.G831R|ENST00000453981,p.G1373R|uc010mgv.3,p.G1273R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022bcu.1	nonsynonymous SNV	exon31	c.G3913A	p.G1305R	KARLEEALLRGEGARGEMMRRRAPG	KARLEEALLRGERARGEMMRRRAPG	5.0	7.0	unscreened	-	3713_9:421042-421042 G>A_KARLEEALLRGERARGEMMRRRAPG
11:133790952-133790952 G>A	0.0	3713	MELANOMA	-	-	-	-	IGSF9B	NM_001277285,p.R890C|ENST00000533871,p.R890C|ENST00000321016,p.R890C|uc031qfh.1,p.R890C	protein_coding	uc031qfh.1	nonsynonymous SNV	exon18	c.C2668T	p.R890C	PFAEETDMYPEFRQSDEENEDPLVP	PFAEETDMYPEFCQSDEENEDPLVP	1.0	8.0	unscreened	-	3713_11:133790952-133790952 G>A_PFAEETDMYPEFCQSDEENEDPLVP
18:40853988-40853988 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1750519,COSM1750518;OCCURENCE=2(urinary_tract)	-	SYT4	uc002law.3,p.P136S|ENST00000590752,p.P118S|NM_020783,p.P136S|ENST00000255224,p.P136S|uc010xcm.2,p.P118S	protein_coding, processed_transcript	uc010xcm.2	nonsynonymous SNV	exon2	c.C352T	p.P118S	KLFLEGEKESVSPESLKSSTSLTSE	KLFLEGEKESVSSESLKSSTSLTSE	1.0	6.0	unscreened	-	3713_18:40853988-40853988 G>A_KLFLEGEKESVSSESLKSSTSLTSE
11:122756673-122756673 C>T	0.0	3713	MELANOMA	-	-	-	-	C11orf63	uc001pyl.2,p.S39L|ENST00000531316,p.S39L|ENST00000227349,p.S39L|NM_199124,p.S39L|uc001pym.4,p.S39L|ENST00000307257,p.S39L|NM_024806,p.S39L	retained_intron, protein_coding	uc001pym.4	nonsynonymous SNV	exon2	c.C116T	p.S39L	HPPLKKEDLHRISKDSLESDSESLT	HPPLKKEDLHRILKDSLESDSESLT	2.0	8.0	unscreened	-	3713_11:122756673-122756673 C>T_HPPLKKEDLHRILKDSLESDSESLT
5:7802410-7802410 C>T	0.0	3713	MELANOMA	-	-	-	-	ADCY2	uc003jdz.1,p.S903F|ENST00000338316,p.S903F|uc010itm.1,p.S99F|NM_020546,p.S903F|uc011cmo.1,p.S723F|ENST00000537121,p.S723F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cmo.1	nonsynonymous SNV	exon18	c.C2168T	p.S723F	ASIPDFKEFYTESDVNKEGLECLRL	ASIPDFKEFYTEFDVNKEGLECLRL	1.0	7.0	unscreened	-	3713_5:7802410-7802410 C>T_ASIPDFKEFYTEFDVNKEGLECLRL
16:77397746-77397746 C>T	0.0	3713	MELANOMA	-	-	-	-	ADAMTS18	uc002ffe.1,p.D33N|NM_199355,p.D337N|uc002ffc.4,p.D337N|ENST00000282849,p.D337N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ffe.1	nonsynonymous SNV	exon5	c.G97A	p.D33N	VSGLFKDGTIGSDINVVVVSLILLE	VSGLFKDGTIGSNINVVVVSLILLE	1.0	4.0	unscreened	-	3713_16:77397746-77397746 C>T_VSGLFKDGTIGSNINVVVVSLILLE
6:38771072-38771072 G>A	0.0	3713	MELANOMA	-	-	-	-	DNAH8	NM_001206927,p.V1007I|ENST00000449981,p.V1007I|uc021yzh.1,p.V1007I|ENST00000441566,p.V790I|ENST00000359357,p.V790I|uc003ooe.2,p.V790I|ENST00000327475,p.V995I	protein_coding	uc021yzh.1	nonsynonymous SNV	exon22	c.G3019A	p.V1007I	FEQIYEVKYTGKVGKQSEQRKHVVF	FEQIYEVKYTGKIGKQSEQRKHVVF	1.0	2.0	unscreened	-	3713_6:38771072-38771072 G>A_FEQIYEVKYTGKIGKQSEQRKHVVF
1:77984389-77984389 G>A	1.0	3713	MELANOMA	-	-	-	-	AK5	NM_012093,p.E404K|ENST00000354567,p.E430K|ENST00000344720,p.E404K|NM_174858,p.E430K|uc001dho.3,p.E404K|uc001dhn.3,p.E430K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001dho.3	nonsynonymous SNV	exon11	c.G1210A	p.E404K	ESERSKLIRDIMERGDLVPSGIVLE	ESERSKLIRDIMKRGDLVPSGIVLE	1.0	4.0	-	-	3713_1:77984389-77984389 G>A_ESERSKLIRDIMKRGDLVPSGIVLE
4:94436448-94436448 G>A	0.0	3713	MELANOMA	-	-	-	-	GRID2	NM_001286838,p.M598I|NM_001510,p.M693I|uc011cdt.2,p.M693I|ENST00000510992,p.M598I|uc011cdu.2,p.M598I|ENST00000282020,p.M693I	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cdu.2	nonsynonymous SNV	exon12	c.G1794A	p.M598I	TVLDSAVYEHVRMKGLNPFERDSMY	TVLDSAVYEHVRIKGLNPFERDSMY	1.0	6.0	unscreened	-	3713_4:94436448-94436448 G>A_TVLDSAVYEHVRIKGLNPFERDSMY
2:149829867-149829867 G>A	0.0	3713	MELANOMA	-	-	-	-	KIF5C	NM_004522,p.D379N|ENST00000435030,p.D379N|ENST00000414838,p.D284N|uc010zbu.2,p.D379N|ENST00000397413,p.D147N	retained_intron, protein_coding, processed_transcript	uc010zbu.2	nonsynonymous SNV	exon12	c.G1135A	p.D379N	LNRWRNGEAVPEDEQISAKDQKNLE	LNRWRNGEAVPENEQISAKDQKNLE	1.0	6.0	unscreened	-	3713_2:149829867-149829867 G>A_LNRWRNGEAVPENEQISAKDQKNLE
2:26534573-26534573 C>T	0.0	3713	MELANOMA	-	-	-	-	GPR113	uc010yky.1,p.G606R|ENST00000311519,p.G675R|NM_153835,p.G476R|ENST00000333478,p.G476R|NM_001145169,p.G606R|ENST00000447444,p.G476R|uc002rhb.1,p.G278R|ENST00000541401,p.G278R|ENST00000421160,p.G606R|uc002rhe.4,p.G675R|uc002rhc.1,p.G278R|uc010eyk.1,p.G476R|NM_001145168,p.G675R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010yky.1	nonsynonymous SNV	exon10	c.G1816A	p.G606R	DHLLPSNYGQGLGDSLYATPGLVLV	DHLLPSNYGQGLRDSLYATPGLVLV	1.0	5.0	unscreened	-	3713_2:26534573-26534573 C>T_DHLLPSNYGQGLRDSLYATPGLVLV
6:76657171-76657171 A>C	0.0	3713	MELANOMA	-	-	-	-	IMPG1	ENST00000369950,p.V635G|NM_001282368,p.V557G|NM_001563,p.V635G|uc003pik.1,p.V635G	protein_coding	uc003pik.1	nonsynonymous SNV	exon14	c.T1904G	p.V635G	LEILNFRNGSVIVNSKMKFAKSVPY	LEILNFRNGSVIGNSKMKFAKSVPY	1.0	7.0	unscreened	-	3713_6:76657171-76657171 A>C_LEILNFRNGSVIGNSKMKFAKSVPY
2:213914602-213914602 C>T	1.0	3713	MELANOMA	-	-	-	-	IKZF2	ENST00000413091,p.E137K|ENST00000457361,p.E137K|uc002vem.3,p.E137K|ENST00000431520,p.E137K|NM_016260,p.E137K|ENST00000342002,p.E143K|ENST00000434687,p.E137K|uc002vej.3,p.E84K	retained_intron, protein_coding, nonsense_mediated_decay	uc002vem.3	nonsynonymous SNV	exon5	c.G409A	p.E137K	NVLMVHKRSHTGERPFHCNQCGASF	NVLMVHKRSHTGKRPFHCNQCGASF	3.0	4.0	unscreened	-	3713_2:213914602-213914602 C>T_NVLMVHKRSHTGKRPFHCNQCGASF
22:50728776-50728776 G>A	1.0	3713	MELANOMA	-	-	-	-	PLXNB2	uc003bkv.4,p.P80S|ENST00000432455,p.P80S|ENST00000449103,p.P80S|NM_012401,p.P80S|ENST00000359337,p.P80S|ENST00000425954,p.P80S	retained_intron, protein_coding, processed_transcript	uc003bkv.4	nonsynonymous SNV	exon3	c.C238T	p.P80S	ATGPALDNKKCTPPIEASQCHEAEM	ATGPALDNKKCTSPIEASQCHEAEM	10.0	6.0	unscreened	-	3713_22:50728776-50728776 G>A_ATGPALDNKKCTSPIEASQCHEAEM
X:149013638-149013638 A>T	0.0	3713	MELANOMA	-	-	-	-	MAGEA8	ENST00000542674,p.S198C|ENST00000535454,p.S198C|ENST00000286482,p.S198C|uc022cgo.1,p.S198C|uc022cgp.1,p.S198C|NM_001166401,p.S198C|uc004fdw.2,p.S198C|NM_001166400,p.S198C|NM_005364,p.S198C|uc022cgq.1,p.S198C	protein_coding, processed_transcript	uc022cgq.1	nonsynonymous SNV	exon1	c.A592T	p.S198C	GLSYDGLLGDDQSTPKTGLLIIVLG	GLSYDGLLGDDQCTPKTGLLIIVLG	1.0	6.0	unscreened	-	3713_X:149013638-149013638 A>T_GLSYDGLLGDDQCTPKTGLLIIVLG
8:139163446-139163446 C>T	0.0	3713	MELANOMA	-	-	-	2	FAM135B	ENST00000276737,p.R1091K|ENST00000467365,p.R401K|uc003yvb.3,p.R653K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yvb.3	nonsynonymous SNV	exon1	c.G1958A	p.R653K	THSSTLDEEVSERMFRGRGRKFGRW	THSSTLDEEVSEKMFRGRGRKFGRW	1.0	5.0	unscreened	-	3713_8:139163446-139163446 C>T_THSSTLDEEVSEKMFRGRGRKFGRW
2:11740970-11740970 G>A	0.0	3713	MELANOMA	-	-	-	-	GREB1	NM_014668,p.G793E|ENST00000432985,p.G427E|ENST00000381486,p.G793E|uc002rbk.1,p.G793E|uc002rbo.1,p.G427E|ENST00000234142,p.G793E	retained_intron, protein_coding	uc002rbo.1	nonsynonymous SNV	exon7	c.G1280A	p.G427E	VHNLYSQSDPSVGLVDRLLNCREVK	VHNLYSQSDPSVELVDRLLNCREVK	3.0	6.0	unscreened	-	3713_2:11740970-11740970 G>A_VHNLYSQSDPSVELVDRLLNCREVK
6:54806366-54806366 G>A	0.0	3713	MELANOMA	-	-	-	-	FAM83B	uc003pck.4,p.R866K|NM_001010872,p.R866K|ENST00000306858,p.R866K	protein_coding	uc003pck.4	nonsynonymous SNV	exon5	c.G2597A	p.R866K	SQEINAPPDENKRTPSPGPVESKFL	SQEINAPPDENKKTPSPGPVESKFL	1.0	2.0	unscreened	-	3713_6:54806366-54806366 G>A_SQEINAPPDENKKTPSPGPVESKFL
6:33140142-33140142 G>A	1.0	3713	MELANOMA	-	-	-	-	COL11A2	uc003ocy.1,p.P885L|ENST00000374713,p.P924L|ENST00000374708,p.P885L|uc003ocx.1,p.P971L|NM_080680,p.P971L|uc003ocz.1,p.P864L|ENST00000341947,p.P971L|ENST00000374712,p.P890L|NM_080679,p.P864L|ENST00000374714,p.P945L|NM_080681,p.P885L|ENST00000395197,p.P911L|ENST00000357486,p.P950L|ENST00000361917,p.P864L	protein_coding, processed_transcript	uc003ocz.1	nonsynonymous SNV	exon37	c.C2591T	p.P864L	TAGKEGTKGDPGPPGAPGKDGPAGL	TAGKEGTKGDPGLPGAPGKDGPAGL	2.0	2.0	unscreened	-	3713_6:33140142-33140142 G>A_TAGKEGTKGDPGLPGAPGKDGPAGL
10:55570420-55570420 C>T	0.0	3713	MELANOMA	-	-	-	-	PCDH15	ENST00000414778,p.E1464K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000414778	nonsynonymous SNV	exon34	c.G4390A	p.E1464K	ELGDSSILYYRYEMPQYGSRRRLLP	ELGDSSILYYRYKMPQYGSRRRLLP	1.0	5.0	unscreened	-	3713_10:55570420-55570420 C>T_ELGDSSILYYRYKMPQYGSRRRLLP
4:79229285-79229285 C>T	0.0	3713	MELANOMA	-	-	-	-	FRAS1	uc003hkw.3,p.P534S|uc003hkz.3,p.P238S|ENST00000325942,p.P534S|uc003hla.1,p.P45S|uc003hky.1,p.P238S|NM_025074,p.P534S|ENST00000264895,p.P534S|uc003hlb.2,p.P534S|NM_001166133,p.P534S|ENST00000264899,p.P534S	retained_intron, protein_coding, nonsense_mediated_decay	uc003hlb.2	nonsynonymous SNV	exon15	c.C1600T	p.P534S	GPTEKHCLACRDPLHVLRDGGCESS	GPTEKHCLACRDSLHVLRDGGCESS	1.0	6.0	unscreened	-	3713_4:79229285-79229285 C>T_GPTEKHCLACRDSLHVLRDGGCESS
7:8178668-8178668 C>T	0.0	3713	MELANOMA	-	-	-	-	ICA1	NM_004968,p.G322E|uc003srn.5,p.G248E|ENST00000422063,p.G351E|uc003srr.4,p.G321E|ENST00000406470,p.G322E|ENST00000402384,p.G322E|uc010ktr.3,p.G351E|ENST00000265577,p.G321E|NM_022307,p.G322E|uc003sro.5,p.G322E|NM_001136020,p.G322E|uc003srm.3,p.G322E|ENST00000401396,p.G310E|uc003srq.4,p.G322E|NM_001276478,p.G321E|ENST00000396675,p.G322E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ktr.3	nonsynonymous SNV	exon11	c.G1052A	p.G351E	QRKESSSFKTEDGKSILSALDKGST	QRKESSSFKTEDEKSILSALDKGST	2.0	6.0	unscreened	-	3713_7:8178668-8178668 C>T_QRKESSSFKTEDEKSILSALDKGST
7:99972056-99972056 G>A	1.0	3713	MELANOMA	-	-	-	-	PILRA	ENST00000394000,p.G152R|NM_178273,p.G152R|uc003uuq.1,p.G152R	retained_intron, protein_coding, processed_transcript	uc003uuq.1	nonsynonymous SNV	exon2	c.G454A	p.G152R	QSIEGTKLSITQGNPSKTQRSHMRI	QSIEGTKLSITQRNPSKTQRSHMRI	7.0	8.0	unscreened	-	3713_7:99972056-99972056 G>A_QSIEGTKLSITQRNPSKTQRSHMRI
19:50775136-50775136 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1216173,COSM1216172;OCCURENCE=1(large_intestine)	-	MYH14	uc002prq.1,p.E1035K|NM_001145809,p.E1068K|ENST00000601313,p.E1068K|ENST00000440075,p.E1068K|NM_024729,p.E1027K|ENST00000262269,p.E1068K|uc010enu.1,p.E1068K|uc002prr.1,p.E1027K|ENST00000598205,p.E1035K|ENST00000376970,p.E1060K|ENST00000596571,p.E1027K|NM_001077186,p.E1035K|ENST00000425460,p.E1035K	retained_intron, protein_coding	uc010enu.1	nonsynonymous SNV	exon26	c.G3202A	p.E1068K	SKERKLLEDRLAEFSSQAAEEEEKV	SKERKLLEDRLAKFSSQAAEEEEKV	1.0	7.0	unscreened	-	3713_19:50775136-50775136 G>A_SKERKLLEDRLAKFSSQAAEEEEKV
17:74289640-74289640 G>A	1.0	3713	MELANOMA	-	-	-	-	QRICH2	uc002jrd.1,p.R224C|ENST00000262765,p.R224C|NM_032134,p.R224C	protein_coding, nonsense_mediated_decay	uc002jrd.1	nonsynonymous SNV	exon4	c.C670T	p.R224C	ASQSQVHLRPDRRGLEPTGMNQPGL	ASQSQVHLRPDRCGLEPTGMNQPGL	1.0	9.0	unscreened	-	3713_17:74289640-74289640 G>A_ASQSQVHLRPDRCGLEPTGMNQPGL
1:152329187-152329187 C>T	0.0	3713	MELANOMA	-	-	-	-	FLG2	ENST00000388718,p.E359K|uc001ezw.4,p.E359K|NM_001014342,p.E359K	protein_coding	uc001ezw.4	nonsynonymous SNV	exon3	c.G1075A	p.E359K	SQSYSQRGYGARENGQPQNCGGQWR	SQSYSQRGYGARKNGQPQNCGGQWR	1.0	2.0	unscreened	-	3713_1:152329187-152329187 C>T_SQSYSQRGYGARKNGQPQNCGGQWR
13:72131162-72131162 C>T	0.0	3713	MELANOMA	-	-	-	-	DACH1	ENST00000359684,p.E576K|ENST00000305425,p.E524K|uc021rkj.1,p.E524K	protein_coding	uc021rkj.1	nonsynonymous SNV	exon6	c.G1570A	p.E524K	HDMGHESKRMHIEKDETPLSTPTAR	HDMGHESKRMHIKKDETPLSTPTAR	1.0	8.0	unscreened	-	3713_13:72131162-72131162 C>T_HDMGHESKRMHIKKDETPLSTPTAR
17:36486910-36486910 C>T	0.0	3713	MELANOMA	-	-	-	-	GPR179	NM_001004334,p.E848K|uc002hpz.3,p.E848K|ENST00000342292,p.E848K	retained_intron, protein_coding, processed_transcript	uc002hpz.3	nonsynonymous SNV	exon11	c.G2542A	p.E848K	SLQKSLSVASSREKALLMASQAYLE	SLQKSLSVASSRKKALLMASQAYLE	1.0	3.0	unscreened	-	3713_17:36486910-36486910 C>T_SLQKSLSVASSRKKALLMASQAYLE
6:138655207-138655207 C>T	0.0	3713	MELANOMA	-	-	-	-	KIAA1244	NM_020340,p.P1742S|ENST00000251691,p.P1742S|uc003qhu.3,p.P1742S	protein_coding	uc003qhu.3	nonsynonymous SNV	exon33	c.C5224T	p.P1742S	DILLEEFVKGPSPGEEKTIQVPEAK	DILLEEFVKGPSSGEEKTIQVPEAK	1.0	8.0	unscreened	-	3713_6:138655207-138655207 C>T_DILLEEFVKGPSSGEEKTIQVPEAK
12:52629114-52629114 G>A	0.0	3713	MELANOMA	-	-	-	-	KRT7	ENST00000331817,p.R167Q|uc001saa.1,p.R167Q|NM_005556,p.R167Q	retained_intron, protein_coding, processed_transcript	uc001saa.1	nonsynonymous SNV	exon2	c.G500A	p.R167Q	LQVDGGRLEAELRSMQDVVEDFKNK	LQVDGGRLEAELQSMQDVVEDFKNK	1.0	6.0	-	-	3713_12:52629114-52629114 G>A_LQVDGGRLEAELQSMQDVVEDFKNK
3:167217992-167217992 C>T	0.0	3713	MELANOMA	-	-	-	-	WDR49	ENST00000308378,p.E642K|NM_178824,p.E642K|uc003feu.1,p.E467K|ENST00000453925,p.E607K|uc003fev.1,p.E642K|ENST00000476376,p.E467K|uc011bpd.1,p.E607K	protein_coding, nonsense_mediated_decay	uc011bpd.1	nonsynonymous SNV	exon13	c.G1819A	p.E607K	AFLLDPEKYFRKEPEEERPQILEAP	AFLLDPEKYFRKKPEEERPQILEAP	1.0	8.0	unscreened	-	3713_3:167217992-167217992 C>T_AFLLDPEKYFRKKPEEERPQILEAP
1:94652129-94652129 C>T	1.0	3713	MELANOMA	-	-	-	-	ARHGAP29	NM_004815,p.R569Q|ENST00000552844,p.R569Q|uc001dqk.3,p.R135Q|uc001dqj.4,p.R569Q|ENST00000260526,p.R569Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001dqk.3	nonsynonymous SNV	exon4	c.G404A	p.R135Q	SISPGDFHRKLPRTPSSGTMSSADD	SISPGDFHRKLPQTPSSGTMSSADD	3.0	8.0	-	-	3713_1:94652129-94652129 C>T_SISPGDFHRKLPQTPSSGTMSSADD
2:196681599-196681599 A>T	0.0	3713	MELANOMA	-	-	-	-	DNAH7	ENST00000312428,p.L3172I|NM_018897,p.L3172I|uc002utj.4,p.L3172I	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon51	c.T9514A	p.L3172I	GNILEDETAIKILSSSKALANEISQ	GNILEDETAIKIISSSKALANEISQ	1.0	4.0	unscreened	-	3713_2:196681599-196681599 A>T_GNILEDETAIKIISSSKALANEISQ
15:34078069-34078069 C>T	0.0	3713	MELANOMA	-	-	-	-	RYR3	uc010bar.3,p.P3159S|NM_001036,p.P3159S|ENST00000415757,p.P3159S|NM_001243996,p.P3159S|ENST00000389232,p.P3159S|uc001zhi.3,p.P3159S	retained_intron, protein_coding, processed_transcript	uc010bar.3	nonsynonymous SNV	exon66	c.C9475T	p.P3159S	ERGPENLPPSTGPCCTKVTSEHLSL	ERGPENLPPSTGSCCTKVTSEHLSL	1.0	8.0	unscreened	-	3713_15:34078069-34078069 C>T_ERGPENLPPSTGSCCTKVTSEHLSL
16:70694077-70694077 G>A	0.0	3713	MELANOMA	-	-	-	-	IL34	uc002ezi.2,p.G238D|uc002ezh.2,p.G239D|NM_001172772,p.G239D|ENST00000566361,p.G214D|ENST00000429149,p.G239D|ENST00000288098,p.G239D|NM_001172771,p.G238D|NM_152456,p.G239D|uc021tkk.1,p.G239D	retained_intron, protein_coding, processed_transcript	uc021tkk.1	nonsynonymous SNV	exon7	c.G716A	p.G239D	TGSVRPVRAQGEGLLP	TGSVRPVRAQGEDLLP	1.0	8.0	unscreened	-	3713_16:70694077-70694077 G>A_TGSVRPVRAQGEDLLP
4:437166-437166 C>T	1.0	3713	MELANOMA	-	-	-	-	ZNF721	uc003gaf.5,p.E396K|ENST00000511833,p.E364K|uc003gag.4,p.E364K|ENST00000338977,p.E352K|NM_133474,p.E364K|uc010ibe.4,p.E352K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ibe.4	nonsynonymous SNV	exon2	c.G1054A	p.E352K	RRIHTGEKPYKCEDCGKAFGRYTAL	RRIHTGEKPYKCKDCGKAFGRYTAL	6.0	5.0	unscreened	-	3713_4:437166-437166 C>T_RRIHTGEKPYKCKDCGKAFGRYTAL
7:129152259-129152259 G>A	0.0	3713	MELANOMA	-	-	-	-	SMKR1	NM_001195243,p.G59R|uc003voy.3,p.G59R|ENST00000462322,p.G59R	protein_coding	uc003voy.3	nonsynonymous SNV	exon2	c.G175A	p.G59R	HLRGFHWPGAPKGKKGRSK	HLRGFHWPGAPKRKKGRSK	1.0	2.0	unscreened	-	3713_7:129152259-129152259 G>A_HLRGFHWPGAPKRKKGRSK
7:150554420-150554420 C>A	0.0	3713	MELANOMA	-	-	-	-	AOC1	ENST00000416793,p.R288S|uc003wia.2,p.R288S|ENST00000483043,p.R288S|uc003why.1,p.R288S|ENST00000360937,p.R288S|ENST00000467291,p.R288S|NM_001272072,p.R288S|ENST00000493429,p.R288S|NM_001091,p.R288S|uc003whz.2,p.R288S	protein_coding, processed_transcript	uc003wia.2	nonsynonymous SNV	exon2	c.C862A	p.R288S	TEEPPLFSSHKPRGDFPSPIHVSGP	TEEPPLFSSHKPSGDFPSPIHVSGP	1.0	3.0	unscreened	-	3713_7:150554420-150554420 C>A_TEEPPLFSSHKPSGDFPSPIHVSGP
14:25043507-25043507 C>T	0.0	3713	MELANOMA	-	-	-	-	CTSG	uc001wpq.3,p.D180N|NM_001911,p.D180N|ENST00000216336,p.D180N	retained_intron, protein_coding	uc001wpq.3	nonsynonymous SNV	exon4	c.G538A	p.D180N	RDRQCLRIFGSYDPRRQICVGDRRE	RDRQCLRIFGSYNPRRQICVGDRRE	1.0	4.0	unscreened	-	3713_14:25043507-25043507 C>T_RDRQCLRIFGSYNPRRQICVGDRRE
12:108685722-108685722 C>T	0.0	3713	MELANOMA	-	-	-	-	CMKLR1	uc001tmv.3,p.E338K|ENST00000412676,p.E340K|ENST00000312143,p.E340K|NM_001142343,p.E340K|uc001tmw.3,p.E340K|ENST00000397688,p.E338K|NM_004072,p.E338K|uc021rdj.1,p.E338K|uc009zuw.3,p.E340K|NM_001142345,p.E340K|ENST00000550402,p.E340K|ENST00000552995,p.E338K|uc009zuv.3,p.E340K|NM_001142344,p.E340K	protein_coding	uc021rdj.1	nonsynonymous SNV	exon1	c.G1012A	p.E338K	VALFSRLVNALSEDTGHSSYPSHRS	VALFSRLVNALSKDTGHSSYPSHRS	6.0	6.0	unscreened	-	3713_12:108685722-108685722 C>T_VALFSRLVNALSKDTGHSSYPSHRS
10:97775979-97775979 G>A	0.0	3713	MELANOMA	-	-	ID=COSM921848,COSM1585171;OCCURENCE=1(endometrium)	-	CC2D2B	ENST00000410012,p.G144R|uc001kll.3,p.G144R|uc010qop.2,p.G144R|ENST00000344386,p.G144R|NM_001159747,p.G144R|NM_001001732,p.G144R	retained_intron, protein_coding, processed_transcript	uc010qop.2	nonsynonymous SNV	exon7	c.G430A	p.G144R	WMTSEHCISLAIGNKEEHAILLCNF	WMTSEHCISLAIRNKEEHAILLCNF	1.0	7.0	unscreened	-	3713_10:97775979-97775979 G>A_WMTSEHCISLAIRNKEEHAILLCNF
21:31971133-31971133 C>T	0.0	3713	MELANOMA	-	-	ID=COSM185182;OCCURENCE=1(liver),1(large_intestine)	-	KRTAP6-2	uc011adc.2,p.E21K|ENST00000334897,p.E21K|NM_181604,p.E21K	protein_coding	uc011adc.2	nonsynonymous SNV	exon1	c.G61A	p.E21K	YYGDHGYGCCGYEGLGYGYGSLRCG	YYGDHGYGCCGYKGLGYGYGSLRCG	1.0	6.0	unscreened	-	3713_21:31971133-31971133 C>T_YYGDHGYGCCGYKGLGYGYGSLRCG
1:75038078-75038078 C>T	0.0	3713	MELANOMA	-	-	-	-	ERICH3	ENST00000326665,p.E1106K|NM_001002912,p.E1106K|uc001dgg.3,p.E1106K	protein_coding, processed_transcript	uc001dgg.3	nonsynonymous SNV	exon14	c.G3316A	p.E1106K	EEQKLKAEEGETETEVRAEEETKAP	EEQKLKAEEGETKTEVRAEEETKAP	1.0	8.0	unscreened	-	3713_1:75038078-75038078 C>T_EEQKLKAEEGETKTEVRAEEETKAP
1:240341335-240341335 G>A	0.0	3713	MELANOMA	-	-	ID=COSM275193;OCCURENCE=1(skin),1(large_intestine)	-	FMN2	uc010pye.2,p.D633N|ENST00000447095,p.D66N	protein_coding, processed_transcript	uc010pye.2	nonsynonymous SNV	exon3	c.G1897A	p.D633N	RVPSMGPPSKPPDEEHRLEDAETED	RVPSMGPPSKPPNEEHRLEDAETED	1.0	8.0	unscreened	-	3713_1:240341335-240341335 G>A_RVPSMGPPSKPPNEEHRLEDAETED
1:240341335-240341335 G>A	0.0	3713	MELANOMA	-	-	ID=COSM275193;OCCURENCE=1(skin),1(large_intestine)	-	FMN2	NM_020066,p.D633N|ENST00000319653,p.D633N|uc010pyd.2,p.D633N	protein_coding, processed_transcript	uc010pyd.2	nonsynonymous SNV	exon3	c.G1897A	p.D633N	RVPSMGPPSKPPDEEHRLEDAETES	RVPSMGPPSKPPNEEHRLEDAETES	1.0	8.0	unscreened	-	3713_1:240341335-240341335 G>A_RVPSMGPPSKPPNEEHRLEDAETES
18:28918297-28918297 C>T	0.0	3713	MELANOMA	-	-	-	-	DSG1	NM_001942,p.P429S|uc002kwp.3,p.P429S|ENST00000257192,p.P429S	protein_coding	uc002kwp.3	nonsynonymous SNV	exon10	c.C1285T	p.P429S	PSTTVRYVMGNNPADLLAVDSRTGK	PSTTVRYVMGNNSADLLAVDSRTGK	1.0	6.0	unscreened	-	3713_18:28918297-28918297 C>T_PSTTVRYVMGNNSADLLAVDSRTGK
2:149247655-149247655 G>A	0.0	3713	MELANOMA	-	-	-	-	MBD5	uc002twm.4,p.R1252K|uc002twp.3,p.R302K|ENST00000404807,p.R1485K|NM_018328,p.R1252K|ENST00000407073,p.R1252K|uc002two.3,p.R510K	retained_intron, protein_coding, processed_transcript	uc002twp.3	nonsynonymous SNV	exon2	c.G905A	p.R302K	LPGEQHPILLPPRNCPGDKILEENF	LPGEQHPILLPPKNCPGDKILEENF	5.0	3.0	unscreened	-	3713_2:149247655-149247655 G>A_LPGEQHPILLPPKNCPGDKILEENF
3:179576945-179576945 C>T	0.0	3713	MELANOMA	-	-	-	-	PEX5L	uc011bqg.2,p.A219T|NM_001256751,p.A219T|ENST00000392649,p.A135T|NM_001256750,p.A241T|ENST00000263962,p.A241T|uc011bqf.2,p.A135T|ENST00000467460,p.A243T|uc011bqe.2,p.A51T|ENST00000472994,p.A184T|ENST00000485199,p.A208T|NM_001256752,p.A208T|uc011bqh.2,p.A184T|uc003fkj.2,p.A208T|NM_001256755,p.A135T|ENST00000468741,p.A51T|ENST00000476138,p.A200T|uc010hxd.2,p.A241T|uc011bqd.2,p.A200T|NM_001256756,p.A51T|NM_001256754,p.A200T|uc003fki.2,p.A243T|NM_016559,p.A243T|ENST00000465751,p.A219T|ENST00000464614,p.A135T|NM_001256753,p.A184T|ENST00000496721,p.A51T	retained_intron, protein_coding, processed_transcript	uc011bqh.2	nonsynonymous SNV	exon6	c.G550A	p.A184T	SASELELVAPTQARLTKEHRWGSAL	SASELELVAPTQTRLTKEHRWGSAL	1.0	7.0	unscreened	-	3713_3:179576945-179576945 C>T_SASELELVAPTQTRLTKEHRWGSAL
10:50121588-50121588 C>T	0.0	3713	MELANOMA	-	-	-	-	LRRC18	NM_001006939,p.D205N|uc001jhd.3,p.D205N|uc001jhe.1,p.D205N|ENST00000374160,p.D205N|ENST00000298124,p.D205N	protein_coding	uc001jhe.1	nonsynonymous SNV	exon2	c.G613A	p.D205N	RRLENLYVVEEKDLCAACLRKCQNA	RRLENLYVVEEKNLCAACLRKCQNA	1.0	5.0	unscreened	-	3713_10:50121588-50121588 C>T_RRLENLYVVEEKNLCAACLRKCQNA
5:13692164-13692164 C>T	0.0	3713	MELANOMA	-	-	-	-	DNAH5	uc003jfd.2,p.D4602N|uc003jfc.2,p.D770N|NM_001369,p.D4602N|ENST00000265104,p.D4602N	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon79	c.G13804A	p.D4602N	PVRTDLNYIAAVDLRTAQTPEHWVL	PVRTDLNYIAAVNLRTAQTPEHWVL	1.0	6.0	unscreened	-	3713_5:13692164-13692164 C>T_PVRTDLNYIAAVNLRTAQTPEHWVL
1:154473950-154473950 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1472696;OCCURENCE=1(breast)	-	SHE	uc001ffb.3,p.E185K|ENST00000304760,p.E185K|NM_001010846,p.E185K	protein_coding	uc001ffb.3	nonsynonymous SNV	exon1	c.G553A	p.E185K	SSASSSPSSLGPELDKGKIIKQQET	SSASSSPSSLGPKLDKGKIIKQQET	1.0	8.0	unscreened	-	3713_1:154473950-154473950 C>T_SSASSSPSSLGPKLDKGKIIKQQET
21:28212275-28212275 G>A	1.0	3713	MELANOMA	-	-	-	-	ADAMTS1	uc002ymf.3,p.P591S|NM_006988,p.P591S|ENST00000284984,p.P591S	retained_intron, protein_coding	uc002ymf.3	nonsynonymous SNV	exon6	c.C1771T	p.P591S	VQYTMRECDNPVPKNGGKYCEGKRV	VQYTMRECDNPVSKNGGKYCEGKRV	6.0	7.0	-	-	3713_21:28212275-28212275 G>A_VQYTMRECDNPVSKNGGKYCEGKRV
11:113856785-113856785 C>T	0.0	3713	MELANOMA	-	-	-	-	HTR3A	ENST00000506841,p.S198F|uc010rxa.2,p.S204F|NM_001161772,p.S183F|NM_000869,p.S204F|ENST00000504030,p.S198F|ENST00000355556,p.S204F|NM_213621,p.S204F|ENST00000375498,p.S204F|uc010rxb.2,p.S204F|ENST00000299961,p.S183F|uc010rxc.2,p.S183F	retained_intron, protein_coding, nonsense_mediated_decay	uc010rxc.2	nonsynonymous SNV	exon6	c.C548T	p.S183F	NISLWRLPEKVKSDRSVFMNQGEWE	NISLWRLPEKVKFDRSVFMNQGEWE	1.0	4.0	unscreened	-	3713_11:113856785-113856785 C>T_NISLWRLPEKVKFDRSVFMNQGEWE
7:143053789-143053789 C>T	0.0	3713	MELANOMA	-	-	-	2	FAM131B	NM_001278297,p.E219K|uc003wct.3,p.E285K|ENST00000409408,p.E285K|uc010loz.3,p.E253K|ENST00000409222,p.E285K|ENST00000443739,p.E313K|ENST00000409578,p.E301K|uc031szl.1,p.E219K|uc003wcu.4,p.E285K|uc010lpa.3,p.E313K|ENST00000409346,p.E285K|NM_001031690,p.E313K|NM_014690,p.E285K	retained_intron, protein_coding, nonsense_mediated_decay	uc031szl.1	nonsynonymous SNV	exon6	c.G655A	p.E219K	AEEEKRPLAPEEEEDAGCRDLESLS	AEEEKRPLAPEEKEDAGCRDLESLS	3.0	7.0	unscreened	-	3713_7:143053789-143053789 C>T_AEEEKRPLAPEEKEDAGCRDLESLS
13:60686294-60686294 A>C	1.0	3713	MELANOMA	-	-	-	-	DIAPH3	ENST00000400330,p.I80M|ENST00000400324,p.I80M|uc001vht.4,p.I80M|NM_001042517,p.I80M|ENST00000267215,p.I80M|uc031qlw.1,p.I80M|NM_001258369,p.I80M	protein_coding, processed_transcript	uc031qlw.1	nonsynonymous SNV	exon3	c.T240G	p.I80M	TDDMLDKFASIRIPGSKKERPPLPN	TDDMLDKFASIRMPGSKKERPPLPN	2.0	4.0	-	-	3713_13:60686294-60686294 A>C_TDDMLDKFASIRMPGSKKERPPLPN
2:165946865-165946865 T>C	0.0	3713	MELANOMA	-	-	-	-	SCN3A	ENST00000540861,p.K416R|ENST00000283254,p.K1933R|ENST00000360093,p.K1933R|uc002ucx.3,p.K1933R|NM_001081677,p.K1884R|ENST00000409101,p.K1884R|uc002ucy.3,p.K1884R|NM_006922,p.K1933R|uc010zcy.2,p.K416R|NM_001081676,p.K1884R|uc002ucz.3,p.K1884R	retained_intron, protein_coding, processed_transcript	uc010zcy.2	nonsynonymous SNV	exon3	c.A1247G	p.K416R	KNISSNYNKEAIKGRIDLPIKQDMI	KNISSNYNKEAIRGRIDLPIKQDMI	2.0	5.0	unscreened	-	3713_2:165946865-165946865 T>C_KNISSNYNKEAIRGRIDLPIKQDMI
19:55450664-55450664 T>C	0.0	3713	MELANOMA	-	-	-	-	NLRP7	NM_001127255,p.E508G|ENST00000448121,p.E508G|NM_139176,p.E508G|uc002qii.4,p.E508G|ENST00000588756,p.E508G|uc002qih.4,p.E508G|uc010esl.3,p.E536G|NM_206828,p.E508G|ENST00000328092,p.E508G|ENST00000586379,p.E508G|ENST00000592784,p.E508G|ENST00000590030,p.E508G|ENST00000340844,p.E508G|uc002qig.4,p.E508G|ENST00000446217,p.E536G|uc010esk.3,p.E508G	protein_coding, nonsense_mediated_decay	uc010esl.3	nonsynonymous SNV	exon6	c.A1607G	p.E536G	DIGDVQKLLSGEERLKNPDLIQVGH	DIGDVQKLLSGEGRLKNPDLIQVGH	1.0	5.0	unscreened	-	3713_19:55450664-55450664 T>C_DIGDVQKLLSGEGRLKNPDLIQVGH
11:110451230-110451230 G>A	0.0	3713	MELANOMA	-	-	-	-	ARHGAP20	uc031qdz.1,p.H778Y|ENST00000533353,p.H788Y|NM_001258417,p.H778Y|NM_001258415,p.H791Y|uc001pkz.2,p.H814Y|NM_020809,p.H814Y|uc001pky.2,p.H791Y|ENST00000528829,p.H778Y|ENST00000357139,p.H788Y|ENST00000529591,p.H357Y|NM_001258418,p.H778Y|uc001plb.2,p.H357Y|ENST00000524756,p.H791Y|uc001pla.2,p.H788Y|ENST00000527598,p.H778Y|ENST00000260283,p.H814Y|uc009yyb.2,p.H778Y|NM_001258416,p.H788Y	protein_coding	uc031qdz.1	nonsynonymous SNV	exon15	c.C2332T	p.H778Y	SVASYSPMSSQDHSKNQPFDVNTSG	SVASYSPMSSQDYSKNQPFDVNTSG	1.0	8.0	unscreened	-	3713_11:110451230-110451230 G>A_SVASYSPMSSQDYSKNQPFDVNTSG
12:52760892-52760892 C>A	0.0	3713	MELANOMA	-	-	-	-	KRT85	NM_002283,p.V100F|uc001sag.3,p.V100F|ENST00000257901,p.V100F	retained_intron, protein_coding	uc001sag.3	nonsynonymous SNV	exon1	c.G298T	p.V100F	CGPSPPCITTVSVNESLLTPLNLEI	CGPSPPCITTVSFNESLLTPLNLEI	1.0	4.0	unscreened	-	3713_12:52760892-52760892 C>A_CGPSPPCITTVSFNESLLTPLNLEI
X:114424851-114424851 G>A	0.0	3713	MELANOMA	-	-	-	-	RBMXL3	ENST00000424776,p.G283S|uc011mte.1,p.G283S|NM_001145346,p.G283S	protein_coding	uc011mte.1	nonsynonymous SNV	exon1	c.G847A	p.G283S	DYRPLRGDGNQNGYRGRDHEYTDHP	DYRPLRGDGNQNSYRGRDHEYTDHP	1.0	7.0	unscreened	-	3713_X:114424851-114424851 G>A_DYRPLRGDGNQNSYRGRDHEYTDHP
9:34623563-34623563 G>A	0.0	3713	MELANOMA	-	-	-	-	ARID3C	ENST00000378909,p.P242S|NM_001017363,p.P242S|uc011lon.2,p.P242S	protein_coding	uc011lon.2	nonsynonymous SNV	exon4	c.C724T	p.P242S	TATPLFGLAGPPPRGAQDPALGPGP	TATPLFGLAGPPSRGAQDPALGPGP	1.0	8.0	unscreened	-	3713_9:34623563-34623563 G>A_TATPLFGLAGPPSRGAQDPALGPGP
10:27702693-27702693 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1702200;OCCURENCE=1(skin)	-	PTCHD3	ENST00000438700,p.E163K|NM_001034842,p.E163K|uc001itu.2,p.E163K	protein_coding	uc001itu.2	nonsynonymous SNV	exon1	c.G487A	p.E163K	ALGTGFLYLPKDEEEDLEEHYTPVG	ALGTGFLYLPKDKEEDLEEHYTPVG	1.0	5.0	unscreened	-	3713_10:27702693-27702693 C>T_ALGTGFLYLPKDKEEDLEEHYTPVG
12:7548813-7548813 C>T	0.0	3713	MELANOMA	-	-	ID=COSM139943;OCCURENCE=1(skin)	-	CD163L1	NM_174941,p.G643E|uc010sge.2,p.G653E|uc001qsy.3,p.G643E|NM_001297650,p.G653E|ENST00000313599,p.G643E|ENST00000416109,p.G653E|ENST00000396630,p.G643E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sge.2	nonsynonymous SNV	exon8	c.G1958A	p.G653E	IGMGLGNASTGYGKIWLDDVSCDGD	IGMGLGNASTGYEKIWLDDVSCDGD	1.0	4.0	unscreened	-	3713_12:7548813-7548813 C>T_IGMGLGNASTGYEKIWLDDVSCDGD
1:152085506-152085506 G>A	0.0	3713	MELANOMA	-	-	-	-	TCHH	NM_007113,p.L63F|ENST00000368804,p.L63F|uc001ezp.3,p.L63F|uc009wne.1,p.L63F	protein_coding	uc009wne.1	nonsynonymous SNV	exon3	c.C187T	p.L63F	PKTVDLILELLDLDSNGRVDFNEFL	PKTVDLILELLDFDSNGRVDFNEFL	1.0	6.0	unscreened	-	3713_1:152085506-152085506 G>A_PKTVDLILELLDFDSNGRVDFNEFL
20:56078540-56078540 C>T	0.0	3713	MELANOMA	-	-	-	-	CTCFL	NM_001269042,p.G598S|uc010gjc.1,p.G598S|ENST00000433949,p.G598S|uc031ruh.1,p.G598S|uc010gjg.4,p.G336S|NM_001269054,p.G336S|ENST00000243914,p.G598S|uc010giw.1,p.G598S|NM_001269046,p.G548S|uc010gix.1,p.G598S|NM_001269049,p.G393S|NM_001269040,p.G598S|NM_080618,p.G598S|uc010gja.2,p.G548S|NM_001269044,p.G598S|uc010gje.3,p.G598S|uc010gjb.2,p.G598S|uc010gjd.1,p.G598S|uc010gjf.3,p.G393S|ENST00000423479,p.G598S|ENST00000371196,p.G598S|NM_001269043,p.G598S|ENST00000429804,p.G548S|ENST00000502686,p.G336S|NM_001269041,p.G598S	protein_coding, processed_transcript	uc031ruh.1	nonsynonymous SNV	exon10	c.G1792A	p.G598S	KRKQTILKEATKGQKEAAKGWKEAA	KRKQTILKEATKSQKEAAKGWKEAA	1.0	8.0	unscreened	-	3713_20:56078540-56078540 C>T_KRKQTILKEATKSQKEAAKGWKEAA
6:44144011-44144011 G>A	0.0	3713	MELANOMA	-	-	-	-	CAPN11	ENST00000398776,p.E313K|ENST00000542245,p.E313K|uc003owt.1,p.E313K|NM_007058,p.E313K	retained_intron, protein_coding, nonsense_mediated_decay	uc003owt.1	nonsynonymous SNV	exon9	c.G937A	p.E313K	TGLQDVHYRGKMETLIRVRNPWGRI	TGLQDVHYRGKMKTLIRVRNPWGRI	1.0	5.0	unscreened	-	3713_6:44144011-44144011 G>A_TGLQDVHYRGKMKTLIRVRNPWGRI
4:79371420-79371420 G>A	0.0	3713	MELANOMA	-	-	-	-	FRAS1	ENST00000264895,p.M2130I|NM_025074,p.M2130I|uc003hlb.2,p.M2130I	retained_intron, protein_coding, nonsense_mediated_decay	uc003hlb.2	nonsynonymous SNV	exon45	c.G6390A	p.M2130I	MKEDPGAGRLQMMKHGNLEQISIKG	MKEDPGAGRLQMIKHGNLEQISIKG	1.0	6.0	unscreened	-	3713_4:79371420-79371420 G>A_MKEDPGAGRLQMIKHGNLEQISIKG
10:72534042-72534042 G>A	0.0	3713	MELANOMA	-	-	-	-	TBATA	uc010qjn.1,p.P281S|ENST00000299290,p.P282S|uc001jrj.1,p.P282S|uc010qjm.1,p.P283S|NM_152710,p.P282S	protein_coding	uc010qjn.1	nonsynonymous SNV	exon9	c.C841T	p.P281S	VAQLLPQPLVSIPTEKLLSQLPEVH	VAQLLPQPLVSISTEKLLSQLPEVH	1.0	4.0	unscreened	-	3713_10:72534042-72534042 G>A_VAQLLPQPLVSISTEKLLSQLPEVH
2:168106265-168106265 C>T	0.0	3713	MELANOMA	-	-	-	-	XIRP2	uc002udx.3,p.S2788F|ENST00000409195,p.S2788F|ENST00000295237,p.S2788F|NM_001199144,p.S2566F|uc010fpq.3,p.S2566F|NM_152381,p.S2788F|uc002udy.3,p.S2613F|ENST00000409273,p.S2566F	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.C7697T	p.S2566F	KEKRVTVQLPTESIQKNQEDKLKMV	KEKRVTVQLPTEFIQKNQEDKLKMV	1.0	4.0	unscreened	-	3713_2:168106265-168106265 C>T_KEKRVTVQLPTEFIQKNQEDKLKMV
2:16743338-16743338 C>T	0.0	3713	MELANOMA	-	-	-	-	FAM49A	ENST00000406434,p.E124K|uc002rck.2,p.E124K|uc010exm.2,p.E124K|ENST00000381323,p.E124K|NM_030797,p.E124K|ENST00000355549,p.E124K	retained_intron, protein_coding	uc010exm.2	nonsynonymous SNV	exon5	c.G370A	p.E124K	CPPYTPTQHLEREQALAKEFAEILH	CPPYTPTQHLERKQALAKEFAEILH	4.0	6.0	unscreened	-	3713_2:16743338-16743338 C>T_CPPYTPTQHLERKQALAKEFAEILH
1:153085007-153085007 G>A	0.0	3713	MELANOMA	-	-	-	-	SPRR2F	uc021ozt.1,p.P68L|ENST00000468739,p.P68L|NM_001014450,p.P68L|uc001fbi.3,p.P68L	protein_coding	uc021ozt.1	nonsynonymous SNV	exon1	c.C203T	p.P68L	PVTPSPPCQPKCPPKSK	PVTPSPPCQPKCLPKSK	1.0	2.0	unscreened	-	3713_1:153085007-153085007 G>A_PVTPSPPCQPKCLPKSK
9:136223471-136223471 G>A	1.0	3713	MELANOMA	-	-	-	-	SURF2	NM_017503,p.M1I|ENST00000371964,p.M1I|NM_001278928,p.M1I|uc004cdi.2,p.M1I	protein_coding, processed_transcript	uc004cdi.2	nonsynonymous SNV	exon1	c.G3A	p.M1I	MSELPGDVRAFLR	ISELPGDVRAFLR	3.0	3.0	unscreened	-	3713_9:136223471-136223471 G>A_ISELPGDVRAFLR
X:132352013-132352013 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1664540,COSM1664539;OCCURENCE=1(kidney)	-	TFDP3	NM_016521,p.S92F|ENST00000310125,p.S92F|uc004exb.1,p.S92F	protein_coding	uc004exb.1	nonsynonymous SNV	exon1	c.C275T	p.S92F	STHFASQNQHSYSSPPWAGQHNRKG	STHFASQNQHSYFSPPWAGQHNRKG	1.0	6.0	unscreened	-	3713_X:132352013-132352013 G>A_STHFASQNQHSYFSPPWAGQHNRKG
X:47435553-47435553 C>T	0.0	3713	MELANOMA	-	-	-	-	SYN1	ENST00000295987,p.D379N|uc004did.3,p.D379N|NM_133499,p.D379N|NM_006950,p.D379N|uc004die.3,p.D379N|ENST00000340666,p.D379N	protein_coding	uc004die.3	nonsynonymous SNV	exon9	c.G1135A	p.D379N	LDICAVEALHGKDGRDHIIEVVGSS	LDICAVEALHGKNGRDHIIEVVGSS	1.0	4.0	unscreened	-	3713_X:47435553-47435553 C>T_LDICAVEALHGKNGRDHIIEVVGSS
12:48391439-48391439 G>A	0.0	3713	MELANOMA	-	-	-	1	COL2A1	NM_001844,p.P161S|uc001rqv.3,p.P92S|NM_033150,p.P92S|ENST00000380518,p.P161S|ENST00000337299,p.P92S|uc001rqu.3,p.P161S	retained_intron, protein_coding, processed_transcript	uc001rqv.3	nonsynonymous SNV	exon6	c.C274T	p.P92S	RGRDGEPGTPGNPGPPGPPGPPGPP	RGRDGEPGTPGNSGPPGPPGPPGPP	1.0	8.0	unscreened	-	3713_12:48391439-48391439 G>A_RGRDGEPGTPGNSGPPGPPGPPGPP
9:137707471-137707471 C>T	1.0	3713	MELANOMA	-	-	-	-	COL5A1	NM_001278074,p.P1355L|uc031tfl.1,p.P1355L|NM_000093,p.P1355L|ENST00000371817,p.P1355L|uc004cfe.4,p.P1355L	retained_intron, protein_coding, processed_transcript	uc031tfl.1	nonsynonymous SNV	exon51	c.C4064T	p.P1355L	FPGDPGPPGEPGPAGQDGPPGDKGD	FPGDPGPPGEPGLAGQDGPPGDKGD	6.0	3.0	unscreened	-	3713_9:137707471-137707471 C>T_FPGDPGPPGEPGLAGQDGPPGDKGD
14:91779498-91779498 C>T	0.0	3713	MELANOMA	-	-	-	-	CCDC88C	ENST00000389857,p.E888K|uc010aty.3,p.E888K|NM_001080414,p.E888K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010aty.3	nonsynonymous SNV	exon15	c.G2662A	p.E888K	LARCRDAAGKLKELEKDNRDLTKQV	LARCRDAAGKLKKLEKDNRDLTKQV	5.0	2.0	unscreened	-	3713_14:91779498-91779498 C>T_LARCRDAAGKLKKLEKDNRDLTKQV
7:11676369-11676369 G>A	0.0	3713	MELANOMA	-	-	-	-	THSD7A	ENST00000423059,p.S137L|NM_015204,p.S137L|uc021zzo.1,p.S137L|uc021zzn.1,p.S137L	retained_intron, protein_coding, processed_transcript	uc021zzo.1	nonsynonymous SNV	exon2	c.C410T	p.S137L	RLGPWNQCQPVISKSLEKPLECIKG	RLGPWNQCQPVILKSLEKPLECIKG	1.0	6.0	unscreened	-	3713_7:11676369-11676369 G>A_RLGPWNQCQPVILKSLEKPLECIKG
3:183017827-183017827 C>T	0.0	3713	MELANOMA	-	-	-	-	MCF2L2	uc003flj.1,p.G424E|uc003fli.1,p.G424E|ENST00000447025,p.G424E|ENST00000328913,p.G424E|ENST00000414362,p.G424E|NM_015078,p.G424E|ENST00000473233,p.G424E	retained_intron, protein_coding, processed_transcript	uc003flj.1	nonsynonymous SNV	exon11	c.G1271A	p.G424E	FINGNKKKWDILGKSLEFHRQLDKV	FINGNKKKWDILEKSLEFHRQLDKV	1.0	6.0	unscreened	-	3713_3:183017827-183017827 C>T_FINGNKKKWDILEKSLEFHRQLDKV
1:103427457-103427457 C>T	0.0	3713	MELANOMA	-	-	-	-	COL11A1	uc001dum.3,p.G1057R|uc001duk.3,p.G241R|ENST00000512756,p.G929R|NM_080630,p.G929R|NM_001190709,p.G1006R|NM_080629,p.G1057R|NM_001854,p.G1045R|ENST00000358392,p.G1057R|ENST00000370096,p.G1045R|uc009weh.3,p.G929R|uc001dun.3,p.G1006R|ENST00000353414,p.G1006R|uc001dul.3,p.G1045R	retained_intron, protein_coding, processed_transcript	uc009weh.3	nonsynonymous SNV	exon39	c.G2785A	p.G929R	GLPGAQGAPGLKGGEGPQGPPGPVG	GLPGAQGAPGLKRGEGPQGPPGPVG	1.0	3.0	unscreened	-	3713_1:103427457-103427457 C>T_GLPGAQGAPGLKRGEGPQGPPGPVG
6:75899004-75899004 C>T	1.0	3713	MELANOMA	-	-	-	-	COL12A1	ENST00000416123,p.G251E|ENST00000483888,p.G251E|uc003phs.3,p.G251E|ENST00000322507,p.G251E|NM_004370,p.G251E|uc021zbv.1,p.G251E	retained_intron, protein_coding, processed_transcript	uc021zbv.1	nonsynonymous SNV	exon6	c.G752A	p.G251E	VGFPKVAIIITDGKSQDEVEIPARE	VGFPKVAIIITDEKSQDEVEIPARE	7.0	5.0	unscreened	-	3713_6:75899004-75899004 C>T_VGFPKVAIIITDEKSQDEVEIPARE
17:10355428-10355428 C>T	0.0	3713	MELANOMA	-	-	-	-	MYH4	ENST00000255381,p.E1190K|uc002gmn.3,p.E1190K|NM_017533,p.E1190K	protein_coding	uc002gmn.3	nonsynonymous SNV	exon27	c.G3568A	p.E1190K	MRRDLEESTLQHEATAAALRKKHAD	MRRDLEESTLQHKATAAALRKKHAD	1.0	7.0	unscreened	-	3713_17:10355428-10355428 C>T_MRRDLEESTLQHKATAAALRKKHAD
1:110020512-110020512 G>A	0.0	3713	MELANOMA	-	-	ID=COSM423401;OCCURENCE=1(breast),1(endometrium)	-	SYPL2	uc001dxo.2,p.D177N|NM_001040709,p.D177N|uc001dxq.2,p.D85N|uc001dxp.3,p.D177N|ENST00000369872,p.D177N	protein_coding, processed_transcript	uc001dxq.2	nonsynonymous SNV	exon2	c.G253A	p.D85N	LVAAAAWGKGLTDVKGATRPSSLTA	LVAAAAWGKGLTNVKGATRPSSLTA	1.0	3.0	unscreened	-	3713_1:110020512-110020512 G>A_LVAAAAWGKGLTNVKGATRPSSLTA
4:155412483-155412483 C>T	0.0	3713	MELANOMA	-	-	-	-	DCHS2	ENST00000339452,p.G9S|uc011cik.1,p.G9S|NM_001142552,p.G9S|ENST00000443500,p.G9S|uc003inx.2,p.G9S	protein_coding, processed_transcript	uc011cik.1	nonsynonymous SNV	exon1	c.G25A	p.G9S	MSPCGRKMGEGRQQRRAPVGK	MSPCGRKMSEGRQQRRAPVGK	2.0	8.0	unscreened	-	3713_4:155412483-155412483 C>T_MSPCGRKMSEGRQQRRAPVGK
16:3544797-3544797 G>T	0.0	3713	MELANOMA	-	-	-	-	C16orf90	ENST00000437192,p.Q43K|uc002cvi.3,p.Q43K|NM_001080524,p.Q43K	protein_coding	uc002cvi.3	nonsynonymous SNV	exon2	c.C127A	p.Q43K	PPNIYEGGLGSPQPQCPSAQGSKPK	PPNIYEGGLGSPKPQCPSAQGSKPK	1.0	8.0	unscreened	-	3713_16:3544797-3544797 G>T_PPNIYEGGLGSPKPQCPSAQGSKPK
2:230923978-230923978 C>T	0.0	3713	MELANOMA	-	-	-	-	SLC16A14	ENST00000457406,p.G31R|ENST00000295190,p.G31R|NM_152527,p.G31R|uc002vqe.3,p.G31R|ENST00000412034,p.G31R|uc002vqf.3,p.G31R|uc002vqd.2,p.G31R	protein_coding	uc002vqf.3	nonsynonymous SNV	exon2	c.G91A	p.G31R	KKTLKPHPNIDGGWAWMMVLSSFFV	KKTLKPHPNIDGRWAWMMVLSSFFV	3.0	6.0	unscreened	-	3713_2:230923978-230923978 C>T_KKTLKPHPNIDGRWAWMMVLSSFFV
5:15616178-15616178 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1064863;OCCURENCE=1(endometrium)	-	FBXL7	uc003jfn.1,p.E42K|ENST00000329673,p.E30K|ENST00000504595,p.E42K|NM_012304,p.E42K	protein_coding	uc003jfn.1	nonsynonymous SNV	exon2	c.G124A	p.E42K	TPTKAQKNVATSEDSDLSMRTLSTP	TPTKAQKNVATSKDSDLSMRTLSTP	2.0	8.0	unscreened	-	3713_5:15616178-15616178 G>A_TPTKAQKNVATSKDSDLSMRTLSTP
6:127765387-127765387 G>A	0.0	3713	MELANOMA	-	-	-	-	KIAA0408	uc003qbc.3,p.S651F|uc003qba.3,p.S62F|uc011ebs.2,p.S651F|NM_014702,p.S651F|ENST00000483725,p.S651F|uc003qbb.3,p.S534F	retained_intron, protein_coding	uc011ebs.2	nonsynonymous SNV	exon6	c.C1952T	p.S651F	SMSVNASHGKGFSRPARPANRRLPS	SMSVNASHGKGFFRPARPANRRLPS	1.0	8.0	unscreened	-	3713_6:127765387-127765387 G>A_SMSVNASHGKGFFRPARPANRRLPS
1:169388260-169388260 C>T	0.0	3713	MELANOMA	-	-	-	-	CCDC181	uc001ggb.3,p.M402I	protein_coding, processed_transcript	uc001ggb.3	nonsynonymous SNV	exon4	c.G1206A	p.M402I	MRRIQRAKEIEDMNSRVSKTSLKNK	MRRIQRAKEIEDINSRVSKTSLKNK	1.0	4.0	unscreened	-	3713_1:169388260-169388260 C>T_MRRIQRAKEIEDINSRVSKTSLKNK
7:144096886-144096886 T>C	0.0	3713	MELANOMA	-	-	-	-	NOBOX	ENST00000223140,p.N256S|ENST00000467773,p.N373S|uc022aoj.1,p.N373S|NM_001080413,p.N373S|ENST00000483238,p.N341S	protein_coding	uc022aoj.1	nonsynonymous SNV	exon6	c.A1118G	p.N373S	KMEKLNGKESKDNPAAPGPASSQCS	KMEKLNGKESKDSPAAPGPASSQCS	1.0	8.0	unscreened	-	3713_7:144096886-144096886 T>C_KMEKLNGKESKDSPAAPGPASSQCS
6:159653601-159653601 C>T	0.0	3713	MELANOMA	-	-	-	-	FNDC1	ENST00000297267,p.S686F|NM_032532,p.S686F|ENST00000340366,p.S623F|uc010kjv.3,p.S686F|uc010kjw.1,p.S571F	protein_coding, processed_transcript	uc010kjw.1	nonsynonymous SNV	exon9	c.C1712T	p.S571F	RQSPSSVLRDRSSVHPGAKPASPAR	RQSPSSVLRDRSFVHPGAKPASPAR	1.0	4.0	unscreened	-	3713_6:159653601-159653601 C>T_RQSPSSVLRDRSFVHPGAKPASPAR
5:75970411-75970411 G>A	0.0	3713	MELANOMA	-	-	-	-	IQGAP2	uc011csv.2,p.R631K|ENST00000396234,p.R631K|NM_001285461,p.R631K|NM_001285462,p.R631K|ENST00000504477,p.R22K|NM_001285460,p.R1085K|uc003kek.3,p.R1135K|NM_006633,p.R1135K|ENST00000379730,p.R637K|ENST00000274364,p.R1135K|ENST00000502745,p.R631K|ENST00000505766,p.R1085K|uc003kel.3,p.R631K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011csv.2	nonsynonymous SNV	exon15	c.G1892A	p.R631K	DMTAGGQINSDQRRNLGSVAKVLQH	DMTAGGQINSDQKRNLGSVAKVLQH	6.0	7.0	unscreened	-	3713_5:75970411-75970411 G>A_DMTAGGQINSDQKRNLGSVAKVLQH
19:8660705-8660705 C>T	0.0	3713	MELANOMA	-	-	-	-	ADAMTS10	NM_030957,p.D474N|ENST00000597188,p.D474N|uc002mkj.1,p.D474N|uc002mkk.1,p.D106N|ENST00000270328,p.D474N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkk.1	nonsynonymous SNV	exon11	c.G316A	p.D106N	FVYPTVAPGQAYDADEQCRFQHGVK	FVYPTVAPGQAYNADEQCRFQHGVK	5.0	4.0	unscreened	-	3713_19:8660705-8660705 C>T_FVYPTVAPGQAYNADEQCRFQHGVK
1:32265636-32265636 G>A	0.0	3713	MELANOMA	-	-	-	-	SPOCD1	ENST00000360482,p.S570L|ENST00000528791,p.S63L|uc001btv.3,p.S63L|ENST00000373648,p.S511L|uc001btu.3,p.S570L|ENST00000257100,p.S63L|ENST00000533231,p.S570L|NM_144569,p.S570L|uc001bts.1,p.S570L|NM_001281988,p.S63L|NM_001281987,p.S570L	retained_intron, protein_coding	uc001btv.3	nonsynonymous SNV	exon4	c.C188T	p.S63L	PRSGSLALGDPSSDPACSQSGPMEA	PRSGSLALGDPSLDPACSQSGPMEA	4.0	6.0	-	-	3713_1:32265636-32265636 G>A_PRSGSLALGDPSLDPACSQSGPMEA
2:209010698-209010698 C>T	0.0	3713	MELANOMA	-	-	ID=COSM3838442;OCCURENCE=1(breast)	-	CRYGB	uc002vcp.4,p.E18K|NM_005210,p.E18K|ENST00000260988,p.E18K	protein_coding	uc002vcp.4	nonsynonymous SNV	exon2	c.G52A	p.E18K	FYEDRAFQGRSYECTTDCPNLQPYF	FYEDRAFQGRSYKCTTDCPNLQPYF	1.0	7.0	unscreened	-	3713_2:209010698-209010698 C>T_FYEDRAFQGRSYKCTTDCPNLQPYF
1:107866985-107866985 G>A	0.0	3713	MELANOMA	-	-	-	-	NTNG1	ENST00000370068,p.E110K|ENST00000370072,p.E110K|ENST00000370070,p.E110K|ENST00000370073,p.E110K|ENST00000370074,p.E110K|ENST00000370067,p.E110K|uc001dvc.4,p.E110K|uc001dvh.4,p.E110K|NM_001113228,p.E110K|ENST00000542803,p.E110K|ENST00000370071,p.E110K|ENST00000370066,p.E110K|ENST00000370061,p.E110K|ENST00000370065,p.E110K|uc010out.2,p.E110K|NM_001113226,p.E110K|uc001dvd.1,p.E110K|NM_014917,p.E110K|uc001dvf.4,p.E110K	protein_coding, processed_transcript	uc010out.2	nonsynonymous SNV	exon3	c.G328A	p.E110K	ELAHPPELMFDFEGRHPSTFWQSAT	ELAHPPELMFDFKGRHPSTFWQSAT	1.0	7.0	unscreened	-	3713_1:107866985-107866985 G>A_ELAHPPELMFDFKGRHPSTFWQSAT
19:9087394-9087394 A>C	0.0	3713	MELANOMA	-	-	-	2	MUC16	NM_024690,p.L1474R|ENST00000397910,p.L1474R|uc002mkp.3,p.L1474R	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.T4421G	p.L1474R	STSLTEEMASTDLDISSPSSPMSTF	STSLTEEMASTDRDISSPSSPMSTF	1.0	5.0	unscreened	-	3713_19:9087394-9087394 A>C_STSLTEEMASTDRDISSPSSPMSTF
11:5247980-5247980 C>T	0.0	3713	MELANOMA	-	-	-	-	HBB	ENST00000380315,p.D48N|ENST00000335295,p.D48N|NM_000518,p.D48N|uc001mae.1,p.D48N	retained_intron, protein_coding	uc001mae.1	nonsynonymous SNV	exon2	c.G142A	p.D48N	YPWTQRFFESFGDLSTPDAVMGNPK	YPWTQRFFESFGNLSTPDAVMGNPK	1.0	3.0	unscreened	-	3713_11:5247980-5247980 C>T_YPWTQRFFESFGNLSTPDAVMGNPK
19:16033230-16033230 C>T	1.0	3713	MELANOMA	-	-	-	-	CYP4F11	ENST00000326742,p.G310E|ENST00000248041,p.G310E|ENST00000402119,p.G310E|NM_001128932,p.G310E|uc002nbu.2,p.G310E|NM_021187,p.G310E|uc010eab.1,p.G310E|uc002nbt.2,p.G310E	retained_intron, protein_coding	uc010eab.1	nonsynonymous SNV	exon7	c.G929A	p.G310E	FIDVLLLSKDEDGKELSDEDIRAEA	FIDVLLLSKDEDEKELSDEDIRAEA	1.0	3.0	-	-	3713_19:16033230-16033230 C>T_FIDVLLLSKDEDEKELSDEDIRAEA
13:28498700-28498702 GCC>-	0.0	3713	MELANOMA	-	-	-	-	PDX1	NM_000209,p.238_239del|ENST00000381033,p.238_239del|uc001urt.2,p.238_239del	protein_coding	uc001urt.2	nonframeshift deletion	exon2	c.714_716del	p.238_239del	DCAVTSGEELLALPPPPPPGGAVPP	DCAVTSGEELLALPPPPPGGAVPPA	1.0	3.0	unscreened	-	3713_13:28498700-28498702 GCC>-_DCAVTSGEELLALPPPPPGGAVPPA
13:28963969-28963969 C>T	0.0	3713	MELANOMA	-	-	-	-	FLT1	uc001usc.3,p.E645K|NM_001159920,p.E645K	protein_coding	uc001usc.3	nonsynonymous SNV	exon13	c.G1933A	p.E645K	TYACRARNVYTGEEILQKKEITIRG	TYACRARNVYTGKEILQKKEITIRG	5.0	6.0	unscreened	-	3713_13:28963969-28963969 C>T_TYACRARNVYTGKEILQKKEITIRG
10:91177521-91177521 G>A	1.0	3713	MELANOMA	-	-	-	-	IFIT5	uc010qnh.2,p.D189N|NM_012420,p.D189N|ENST00000371795,p.D189N	protein_coding	uc010qnh.2	nonsynonymous SNV	exon2	c.G565A	p.D189N	NIGYAITVYRLDDSDREGSVKSFSL	NIGYAITVYRLDNSDREGSVKSFSL	7.0	4.0	-	-	3713_10:91177521-91177521 G>A_NIGYAITVYRLDNSDREGSVKSFSL
10:25226282-25226282 G>A	0.0	3713	MELANOMA	-	-	-	-	PRTFDC1	ENST00000320152,p.A57V|NM_001282786,p.A57V|uc010qdd.1,p.A57V|ENST00000376378,p.A57V|ENST00000376376,p.A57V|uc001ise.1,p.A57V|NM_020200,p.A57V	protein_coding	uc010qdd.1	nonsynonymous SNV	exon3	c.C170T	p.A57V	PHGIIVDRIERLAKDIMKDIGYSDI	PHGIIVDRIERLVKDIMKDIGYSDI	3.0	4.0	unscreened	-	3713_10:25226282-25226282 G>A_PHGIIVDRIERLVKDIMKDIGYSDI
2:167760045-167760045 C>T	0.0	3713	MELANOMA	-	-	-	-	XIRP2	ENST00000409195,p.S18F|NM_152381,p.S18F|NM_001079810,p.S18F|ENST00000409043,p.S18F|NM_001199143,p.S18F|uc002udx.3,p.S18F|ENST00000409728,p.S18F|uc010fpo.3,p.S18F|ENST00000295237,p.S18F|ENST00000420519,p.S18F|uc010fpn.3,p.S18F|ENST00000409756,p.S18F	protein_coding	uc010fpo.3	nonsynonymous SNV	exon2	c.C53T	p.S18F	KGSLNLLRQKWESCDYQRSECHPRD	KGSLNLLRQKWEFCDYQRSECHPRD	1.0	5.0	unscreened	-	3713_2:167760045-167760045 C>T_KGSLNLLRQKWEFCDYQRSECHPRD
7:76028043-76028043 C>T	0.0	3713	MELANOMA	-	-	-	-	SSC4D	uc003ufb.3,p.G183R|NM_080744,p.G183R|ENST00000275560,p.G183R	protein_coding, processed_transcript	uc003ufb.3	nonsynonymous SNV	exon5	c.G547A	p.G183R	LTSRAPPTTLPNGKSEGSVRLVGGA	LTSRAPPTTLPNRKSEGSVRLVGGA	1.0	7.0	unscreened	-	3713_7:76028043-76028043 C>T_LTSRAPPTTLPNRKSEGSVRLVGGA
2:1488534-1488534 G>A	0.0	3713	MELANOMA	0.0009	-	-	-	TPO	ENST00000346956,p.R502K|uc010yip.2,p.R502K|uc002qwu.3,p.R502K|ENST00000382201,p.R502K|NM_001206744,p.R502K|uc002qwx.3,p.R502K|NM_175719,p.R502K|uc002qwr.3,p.R502K|NM_175722,p.R329K|NM_000547,p.R502K|ENST00000422464,p.R431K|ENST00000329066,p.R502K|ENST00000345913,p.R502K|ENST00000337415,p.R502K|ENST00000469607,p.R33K|NM_001206745,p.R502K|uc002qww.3,p.R502K|ENST00000349624,p.R329K|ENST00000382198,p.R329K|uc010yio.2,p.R329K|NM_175721,p.R502K	protein_coding, processed_transcript	uc010yip.2	nonsynonymous SNV	exon8	c.G1505A	p.R502K	FRFGHATIHPLVRRLDASFQEHPDL	FRFGHATIHPLVKRLDASFQEHPDL	1.0	4.0	unscreened	-	3713_2:1488534-1488534 G>A_FRFGHATIHPLVKRLDASFQEHPDL
8:17053106-17053106 C>T	0.0	3713	MELANOMA	-	-	-	-	ZDHHC2	uc003wxe.3,p.P116S|ENST00000522184,p.P71S|ENST00000262096,p.P116S|NM_016353,p.P116S	retained_intron, protein_coding	uc003wxe.3	nonsynonymous SNV	exon4	c.C346T	p.P116S	HQEVLRRAAKDLPIYTRTMSGAIRY	HQEVLRRAAKDLSIYTRTMSGAIRY	2.0	5.0	-	-	3713_8:17053106-17053106 C>T_HQEVLRRAAKDLSIYTRTMSGAIRY
14:51081112-51081112 G>A	0.0	3713	MELANOMA	-	-	-	-	ATL1	uc001wye.4,p.E249K|NM_181598,p.E249K|NM_001127713,p.E249K|uc021rsx.1,p.E249K|uc001wyf.4,p.E249K|NM_015915,p.E249K|ENST00000358385,p.E249K|ENST00000354525,p.E249K|ENST00000357032,p.E249K|uc021rsw.1,p.E249K|uc001wyd.4,p.E249K|ENST00000441560,p.E249K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021rsx.1	nonsynonymous SNV	exon8	c.G745A	p.E249K	EKRLKVSGNQHEELQNVRKHIHSCF	EKRLKVSGNQHEKLQNVRKHIHSCF	3.0	3.0	unscreened	-	3713_14:51081112-51081112 G>A_EKRLKVSGNQHEKLQNVRKHIHSCF
1:152279785-152279785 C>T	1.0	3713	MELANOMA	-	-	-	-	FLG	NM_002016,p.G2526D|uc001ezu.1,p.G2526D|ENST00000368799,p.G2526D	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.G7577A	p.G2526D	SRQTRNDEQSGDGSRHSGSRHHEAS	SRQTRNDEQSGDDSRHSGSRHHEAS	1.0	8.0	unscreened	-	3713_1:152279785-152279785 C>T_SRQTRNDEQSGDDSRHSGSRHHEAS
2:227919415-227919415 C>T	0.0	3713	MELANOMA	-	-	-	-	COL4A4	uc021vxr.1,p.E919K|NM_000092,p.E919K|uc021vxs.1,p.E919K|ENST00000396625,p.E919K|ENST00000329662,p.E919K	protein_coding	uc021vxs.1	nonsynonymous SNV	exon31	c.G2755A	p.E919K	PRGLPGFPGFPGERGKPGAEGCPGA	PRGLPGFPGFPGKRGKPGAEGCPGA	2.0	8.0	unscreened	-	3713_2:227919415-227919415 C>T_PRGLPGFPGFPGKRGKPGAEGCPGA
19:374371-374371 C>T	0.0	3713	MELANOMA	-	-	-	-	THEG	ENST00000346878,p.R120K|uc002lol.3,p.R120K|NM_016585,p.R120K|ENST00000342640,p.R120K|uc002lom.3,p.R120K|NM_199202,p.R120K	retained_intron, protein_coding	uc002lom.3	nonsynonymous SNV	exon2	c.G359A	p.R120K	SQKLPSTTMTKARKRRRRRRLMELA	SQKLPSTTMTKAKKRRRRRRLMELA	1.0	3.0	unscreened	-	3713_19:374371-374371 C>T_SQKLPSTTMTKAKKRRRRRRLMELA
16:3141556-3141556 G>A	0.0	3713	MELANOMA	-	-	-	-	ZSCAN10	NM_001282416,p.P121S|ENST00000538082,p.P121S|NM_032805,p.P203S|uc002ctv.1,p.P203S|uc002ctw.1,p.P121S|ENST00000576985,p.P203S|ENST00000252463,p.P203S|uc002ctx.1,p.P131S	retained_intron, protein_coding, processed_transcript	uc002ctx.1	nonsynonymous SNV	exon3	c.C391T	p.P131S	LTFEDVPENKAWPAHPLGFGSRTPD	LTFEDVPENKAWSAHPLGFGSRTPD	1.0	4.0	unscreened	-	3713_16:3141556-3141556 G>A_LTFEDVPENKAWSAHPLGFGSRTPD
4:57687633-57687633 C>T	0.0	3713	MELANOMA	-	-	-	-	SPINK2	ENST00000506738,p.D66N|uc031sel.1,p.D66N|NM_001271718,p.D66N	retained_intron, protein_coding	uc031sel.1	nonsynonymous SNV	exon1	c.G196A	p.D66N	GTRAPVTGGSPEDLPASLIPQFGLF	GTRAPVTGGSPENLPASLIPQFGLF	1.0	5.0	unscreened	-	3713_4:57687633-57687633 C>T_GTRAPVTGGSPENLPASLIPQFGLF
1:61554269-61554269 C>T	0.0	3713	MELANOMA	-	-	-	-	NFIA	ENST00000485903,p.P159L|ENST00000371184,p.P159L|uc001czy.3,p.P151L|NM_001145511,p.P151L|uc010oos.2,p.P204L|NM_001145512,p.P204L|ENST00000476646,p.P112L|NM_005595,p.P159L|ENST00000371189,p.P204L|ENST00000403491,p.P159L|uc001czv.3,p.P159L|ENST00000371187,p.P159L|ENST00000371185,p.P159L|ENST00000407417,p.P151L|uc001czw.3,p.P159L|ENST00000371191,p.P182L|NM_001134673,p.P159L	protein_coding, processed_transcript	uc010oos.2	nonsynonymous SNV	exon3	c.C611T	p.P204L	GERLVKSPQCSNPGLCVQPHHIGVS	GERLVKSPQCSNLGLCVQPHHIGVS	2.0	7.0	unscreened	-	3713_1:61554269-61554269 C>T_GERLVKSPQCSNLGLCVQPHHIGVS
12:29542765-29542765 A>C	0.0	3713	MELANOMA	-	-	-	-	OVCH1-AS1	uc031qgv.1,p.Q109H	protein_coding, processed_transcript	uc031qgv.1	nonsynonymous SNV	exon1	c.A327C	p.Q109H	IGRDRPSPDDNGQRPSGAWKGYDIE	IGRDRPSPDDNGHRPSGAWKGYDIE	1.0	7.0	unscreened	-	3713_12:29542765-29542765 A>C_IGRDRPSPDDNGHRPSGAWKGYDIE
1:103474059-103474059 G>A	0.0	3713	MELANOMA	-	-	-	-	COL11A1	ENST00000370096,p.S548L|NM_001854,p.S548L|uc001dul.3,p.S548L|NM_080629,p.S560L|ENST00000353414,p.S509L|uc001dun.3,p.S509L|NM_080630,p.S432L|uc001dum.3,p.S560L|ENST00000512756,p.S432L|NM_001190709,p.S509L|uc009weh.3,p.S432L|ENST00000358392,p.S560L	retained_intron, protein_coding, processed_transcript	uc009weh.3	nonsynonymous SNV	exon13	c.C1295T	p.S432L	LTGRPGPVGGPGSSGAKGESGDPGP	LTGRPGPVGGPGLSGAKGESGDPGP	1.0	8.0	unscreened	-	3713_1:103474059-103474059 G>A_LTGRPGPVGGPGLSGAKGESGDPGP
1:172422283-172422283 G>A	0.0	3713	MELANOMA	-	-	-	-	C1orf105	ENST00000367725,p.G41E|NM_001300760,p.G41E	protein_coding, processed_transcript	NM_001300760	nonsynonymous SNV	exon1	c.G122A	p.G41E	LFNALIPSPDRNGAALLGGQASADS	LFNALIPSPDRNEAALLGGQASADS	1.0	4.0	unscreened	-	3713_1:172422283-172422283 G>A_LFNALIPSPDRNEAALLGGQASADS
13:23853548-23853548 G>A	0.0	3713	MELANOMA	-	-	-	-	SGCG	ENST00000218867,p.D146N|ENST00000545013,p.D146N|uc001uom.2,p.D146N|ENST00000537476,p.D146N|NM_000231,p.D146N|uc009zzv.2,p.D146N|uc009zzw.2,p.D146N	protein_coding	uc009zzw.2	nonsynonymous SNV	exon6	c.G436A	p.D146N	EVQNQQFQINSNDGKPLFTVDEKEV	EVQNQQFQINSNNGKPLFTVDEKEV	1.0	6.0	unscreened	-	3713_13:23853548-23853548 G>A_EVQNQQFQINSNNGKPLFTVDEKEV
3:38316927-38316927 C>T	0.0	3713	MELANOMA	-	-	-	-	SLC22A13	ENST00000450935,p.P199S|ENST00000415844,p.P225S	protein_coding, nonsense_mediated_decay	ENST00000450935	nonsynonymous SNV	exon4	c.C595T	p.P199S	DPWEDGRGDTTDPEGGLGQ	DPWEDGRGDTTDSEGGLGQ	1.0	3.0	unscreened	-	3713_3:38316927-38316927 C>T_DPWEDGRGDTTDSEGGLGQ
17:39552707-39552707 C>T	0.0	3713	MELANOMA	-	-	-	-	KRT31	NM_002277,p.E185K|ENST00000251645,p.E185K|uc002hwn.3,p.E185K|uc010cxn.3,p.E185K	protein_coding	uc010cxn.3	nonsynonymous SNV	exon3	c.G553A	p.E185K	KSDLEAQVESLKEELLCLKSNHEQE	KSDLEAQVESLKKELLCLKSNHEQE	1.0	3.0	unscreened	-	3713_17:39552707-39552707 C>T_KSDLEAQVESLKKELLCLKSNHEQE
5:143586602-143586602 G>A	0.0	3713	MELANOMA	-	-	-	-	KCTD16	NM_020768,p.E109K|ENST00000507359,p.E109K|uc003lnn.1,p.E109K|ENST00000512467,p.E109K|uc003lnm.1,p.E109K	protein_coding	uc003lnn.1	nonsynonymous SNV	exon2	c.G325A	p.E109K	PDHFPEKGRLKREAEYFQLPDLVKL	PDHFPEKGRLKRKAEYFQLPDLVKL	1.0	7.0	unscreened	-	3713_5:143586602-143586602 G>A_PDHFPEKGRLKRKAEYFQLPDLVKL
1:225394811-225394811 C>T	0.0	3713	MELANOMA	-	-	-	-	DNAH14	ENST00000430092,p.R2088C|ENST00000445597,p.R1683C|NM_001373,p.R2088C|uc001how.2,p.R2088C|ENST00000439375,p.R2088C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001how.2	nonsynonymous SNV	exon40	c.C6262T	p.R2088C	NSVTDGLQFIRNRQKFQPYPMEDIT	NSVTDGLQFIRNCQKFQPYPMEDIT	5.0	5.0	unscreened	-	3713_1:225394811-225394811 C>T_NSVTDGLQFIRNCQKFQPYPMEDIT
1:6634760-6634760 C>T	0.0	3713	MELANOMA	-	-	-	-	TAS1R1	ENST00000333172,p.P190S|uc021ofp.1,p.P112S|ENST00000328191,p.P190S|NM_138697,p.P190S|uc001ant.3,p.P190S	protein_coding	uc021ofp.1	nonsynonymous SNV	exon2	c.C334T	p.P112S	VKRQYPSFLRTIPNDKYQVETMVLL	VKRQYPSFLRTISNDKYQVETMVLL	1.0	7.0	unscreened	-	3713_1:6634760-6634760 C>T_VKRQYPSFLRTISNDKYQVETMVLL
7:44189458-44189458 C>T	0.0	3713	MELANOMA	-	-	-	-	GCK	uc003tkl.2,p.D194N|NM_033508,p.D193N|NM_033507,p.D195N|ENST00000345378,p.D195N|uc003tkj.1,p.D193N|NM_000162,p.D194N|ENST00000403799,p.D194N|ENST00000437084,p.D177N|uc003tkk.1,p.D195N|ENST00000395796,p.D193N	retained_intron, protein_coding, processed_transcript	uc003tkl.2	nonsynonymous SNV	exon6	c.G580A	p.D194N	VGLLRDAIKRRGDFEMDVVAMVNDT	VGLLRDAIKRRGNFEMDVVAMVNDT	1.0	5.0	unscreened	-	3713_7:44189458-44189458 C>T_VGLLRDAIKRRGNFEMDVVAMVNDT
21:28315843-28315843 C>T	0.0	3713	MELANOMA	-	-	-	-	ADAMTS5	NM_007038,p.D421N|ENST00000284987,p.D421N|uc002ymg.3,p.D421N	protein_coding	uc002ymg.3	nonsynonymous SNV	exon3	c.G1261A	p.D421N	AHEIGHLLGLSHDDSKFCEETFGST	AHEIGHLLGLSHNDSKFCEETFGST	2.0	8.0	unscreened	-	3713_21:28315843-28315843 C>T_AHEIGHLLGLSHNDSKFCEETFGST
20:43837229-43837229 C>T	0.0	3713	MELANOMA	-	-	-	-	SEMG1	uc002xnj.2,p.H371Y|ENST00000372781,p.H431Y|NM_003007,p.H431Y|ENST00000244069,p.H371Y|uc002xni.2,p.H431Y	protein_coding	uc002xnj.2	nonsynonymous SNV	exon3	c.C1111T	p.H371Y	SHEQKGRHQHGSHGGLDIVIIEQED	SHEQKGRHQHGSYGGLDIVIIEQED	1.0	6.0	unscreened	-	3713_20:43837229-43837229 C>T_SHEQKGRHQHGSYGGLDIVIIEQED
11:1096474-1096474 C>T	0.0	3713	MELANOMA	-	-	-	-	MUC2	ENST00000441003,p.P2167S|ENST00000361558,p.P305S	protein_coding	ENST00000441003	nonsynonymous SNV	exon34	c.C6499T	p.P2167S	NFGVYIDNYHCDPNDKVSCPRTLIV	NFGVYIDNYHCDSNDKVSCPRTLIV	1.0	8.0	unscreened	-	3713_11:1096474-1096474 C>T_NFGVYIDNYHCDSNDKVSCPRTLIV
3:155199701-155199701 C>T	0.0	3713	MELANOMA	-	-	-	-	PLCH1	uc021xge.1,p.G1380S|ENST00000414191,p.G1342S|ENST00000340059,p.G1380S|NM_001130960,p.G1380S|ENST00000334686,p.G1342S|NM_014996,p.G1342S|ENST00000460012,p.G1342S|uc021xgf.1,p.G1342S	retained_intron, protein_coding	uc021xgf.1	nonsynonymous SNV	exon22	c.G4024A	p.G1342S	NLSLTTCEYRREGTSQLASPLKLKY	NLSLTTCEYRRESTSQLASPLKLKY	1.0	4.0	unscreened	-	3713_3:155199701-155199701 C>T_NLSLTTCEYRRESTSQLASPLKLKY
2:71058267-71058267 G>A	0.0	3713	MELANOMA	-	-	-	-	CD207	NM_015717,p.P301S|uc002shg.3,p.P301S|ENST00000410009,p.P301S	protein_coding	uc002shg.3	nonsynonymous SNV	exon6	c.C901T	p.P301S	AGNNEHCGNIKAPSLQAWNDAPCDK	AGNNEHCGNIKASSLQAWNDAPCDK	1.0	4.0	unscreened	-	3713_2:71058267-71058267 G>A_AGNNEHCGNIKASSLQAWNDAPCDK
4:57687633-57687633 C>T	0.0	3713	MELANOMA	-	-	-	-	SPINK2	NM_001271722,p.D66N|uc031sep.1,p.D66N	retained_intron, protein_coding	uc031sep.1	nonsynonymous SNV	exon1	c.G196A	p.D66N	GTRAPVTGGSPEDLPGKVVIILKSF	GTRAPVTGGSPENLPGKVVIILKSF	1.0	5.0	unscreened	-	3713_4:57687633-57687633 C>T_GTRAPVTGGSPENLPGKVVIILKSF
7:143453848-143453848 C>T	0.0	3713	MELANOMA	-	-	-	-	CTAGE6	uc003wdk.4,p.E302K|NM_178561,p.E302K|ENST00000470691,p.E302K	-	uc003wdk.4	nonsynonymous SNV	exon1	c.G904A	p.E302K	DDNLELEVNSQWENGANLDDPLKGA	DDNLELEVNSQWKNGANLDDPLKGA	1.0	7.0	unscreened	-	3713_7:143453848-143453848 C>T_DDNLELEVNSQWKNGANLDDPLKGA
13:102359121-102359121 C>T	1.0	3713	MELANOMA	-	-	-	-	ITGBL1	ENST00000376162,p.S290F|NM_001271755,p.S334F|ENST00000376180,p.S383F|ENST00000545560,p.S242F|uc001vpb.4,p.S383F|uc010agb.4,p.S334F|uc001vpc.5,p.S242F|uc031qnc.1,p.S290F|NM_004791,p.S383F|NM_001271754,p.S242F|NM_001271756,p.S290F	protein_coding, processed_transcript	uc031qnc.1	nonsynonymous SNV	exon8	c.C869T	p.S290F	LDGVVCGGHGTCSCGRCVCERGWFG	LDGVVCGGHGTCFCGRCVCERGWFG	2.0	7.0	-	-	3713_13:102359121-102359121 C>T_LDGVVCGGHGTCFCGRCVCERGWFG
14:70926236-70926236 G>A	1.0	3713	MELANOMA	-	-	-	-	ADAM21	ENST00000267499,p.G674S|uc001xmd.3,p.G674S|uc021rvq.1,p.G674S|NM_003813,p.G674S|ENST00000603540,p.G674S	protein_coding	uc021rvq.1	nonsynonymous SNV	exon1	c.G2020A	p.G674S	CQHRGYGGSIDSGPASAKRGVFLPL	CQHRGYGGSIDSSPASAKRGVFLPL	1.0	3.0	unscreened	-	3713_14:70926236-70926236 G>A_CQHRGYGGSIDSSPASAKRGVFLPL
2:71839933-71839933 C>T	1.0	3713	MELANOMA	-	-	-	-	DYSF	uc010feo.3,p.P1476S|NM_001130983,p.P1445S|uc002sif.3,p.P1445S|ENST00000409651,p.P1476S|uc010fek.3,p.P1462S|uc010fee.3,p.P1444S|ENST00000410041,p.P1462S|NM_001130980,p.P1461S|uc002sig.4,p.P1430S|ENST00000409582,p.P1461S|ENST00000394120,p.P1445S|uc010fen.3,p.P1462S|NM_001130987,p.P1462S|NM_001130981,p.P1461S|NM_001130978,p.P1444S|uc002sie.3,p.P1444S|uc010yqz.2,p.P184S|uc010fej.3,p.P1431S|NM_001130977,p.P1430S|NM_001130984,p.P1431S|NM_001130455,p.P1445S|uc010feg.3,p.P1475S|ENST00000409744,p.P1431S|NM_001130986,p.P1431S|NM_001130979,p.P1475S|ENST00000409366,p.P1445S|ENST00000258104,p.P1444S|NM_003494,p.P1444S|ENST00000413539,p.P1475S|NM_001130985,p.P1462S|uc010fef.3,p.P1461S|ENST00000429174,p.P1444S|NM_001130982,p.P1476S|uc010yqy.2,p.P325S|uc010fel.3,p.P1431S|ENST00000409762,p.P1461S|uc010fem.3,p.P1445S|ENST00000410020,p.P1462S|NM_001130976,p.P1430S|uc010fei.3,p.P1461S|uc010feh.3,p.P1430S	protein_coding, processed_transcript	uc010yqz.2	nonsynonymous SNV	exon5	c.C550T	p.P184S	PYSAESPSPQGGPDDVSLLSPGEDV	PYSAESPSPQGGSDDVSLLSPGEDV	3.0	5.0	-	-	3713_2:71839933-71839933 C>T_PYSAESPSPQGGSDDVSLLSPGEDV
22:32293468-32293468 G>A	0.0	3713	MELANOMA	-	-	-	-	DEPDC5	ENST00000266091,p.V1380I|ENST00000400249,p.V1371I|ENST00000382112,p.V1393I|NM_014662,p.V1371I|uc011als.2,p.V1302I|NM_001242896,p.V1402I|ENST00000535622,p.V1302I|ENST00000400246,p.V1402I|ENST00000382111,p.V1402I|uc003als.3,p.V1371I|NM_001136029,p.V1393I|uc011aly.2,p.V219I|ENST00000400248,p.V1371I|uc011alx.2,p.V219I|NM_001242897,p.V1302I|uc010gwk.3,p.V397I|uc003alu.3,p.V820I|uc003alw.3,p.V669I|uc011alu.2,p.V1402I|uc003alt.3,p.V1393I|ENST00000539165,p.V219I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011aly.2	nonsynonymous SNV	exon9	c.G655A	p.V219I	WMAVTAAVLFEMVQGWHRKATSCGF	WMAVTAAVLFEMIQGWHRKATSCGF	3.0	5.0	unscreened	-	3713_22:32293468-32293468 G>A_WMAVTAAVLFEMIQGWHRKATSCGF
10:73553194-73553194 C>T	0.0	3713	MELANOMA	-	-	-	-	CDH23	NM_022124,p.S2170F|ENST00000224721,p.S2175F	protein_coding, processed_transcript	NM_022124	nonsynonymous SNV	exon46	c.C6509T	p.S2170F	AIVTILIDDINDSRPEFLNPIQTVS	AIVTILIDDINDFRPEFLNPIQTVS	2.0	5.0	unscreened	-	3713_10:73553194-73553194 C>T_AIVTILIDDINDFRPEFLNPIQTVS
2:169851946-169851946 C>T	0.0	3713	MELANOMA	-	-	-	-	ABCB11	NM_003742,p.R175K|ENST00000263817,p.R175K|uc002ueo.1,p.R175K	retained_intron, protein_coding, nonsense_mediated_decay	uc002ueo.1	nonsynonymous SNV	exon7	c.G524A	p.R175K	WVIAAARQIQKMRKFYFRRIMRMEI	WVIAAARQIQKMKKFYFRRIMRMEI	1.0	5.0	unscreened	-	3713_2:169851946-169851946 C>T_WVIAAARQIQKMKKFYFRRIMRMEI
8:73849880-73849880 G>A	0.0	3713	MELANOMA	-	-	-	-	KCNB2	uc003xzb.3,p.G764R|ENST00000523207,p.G764R|NM_004770,p.G764R	protein_coding	uc003xzb.3	nonsynonymous SNV	exon3	c.G2290A	p.G764R	ISTILLEETPSQGDRPLLGTEVSAP	ISTILLEETPSQRDRPLLGTEVSAP	1.0	3.0	unscreened	-	3713_8:73849880-73849880 G>A_ISTILLEETPSQRDRPLLGTEVSAP
11:617422-617422 C>T	0.0	3713	MELANOMA	-	-	-	-	CDHR5	NM_021924,p.D823N|ENST00000349570,p.D629N|uc009ycc.3,p.D657N|uc001lqk.3,p.D629N|uc001lqj.3,p.D823N|ENST00000397542,p.D823N|uc009ycd.3,p.D817N|ENST00000358353,p.D823N|NM_031264,p.D629N|uc001lql.3,p.D823N|NM_001171968,p.D817N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009ycd.3	nonsynonymous SNV	exon15	c.G2449A	p.D817N	LDVDGASDSGSGDEGEGAGRGGGPY	LDVDGASDSGSGNEGEGAGRGGGPY	1.0	8.0	unscreened	-	3713_11:617422-617422 C>T_LDVDGASDSGSGNEGEGAGRGGGPY
12:40619018-40619018 G>A	0.0	3713	MELANOMA	-	-	-	-	LRRK2	NM_198578,p.G29R|uc001rmg.4,p.G29R|ENST00000343742,p.G29R|ENST00000298910,p.G29R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rmg.4	nonsynonymous SNV	exon1	c.G85A	p.G29R	KKLIVRLNNVQEGKQIETLVQILED	KKLIVRLNNVQERKQIETLVQILED	4.0	4.0	unscreened	-	3713_12:40619018-40619018 G>A_KKLIVRLNNVQERKQIETLVQILED
3:14106430-14106430 C>T	0.0	3713	MELANOMA	-	-	-	-	TPRXL	ENST00000429201,p.P252S|uc003byg.3,p.P252S|uc011avd.2,p.P252S|ENST00000424053,p.P252S|ENST00000326972,p.P252S	protein_coding, processed_transcript	uc011avd.2	nonsynonymous SNV	exon3	c.C754T	p.P252S	PQSPQSSHCAPFP	PQSPQSSHCAPFS	1.0	2.0	unscreened	-	3713_3:14106430-14106430 C>T_PQSPQSSHCAPFS
12:29542765-29542765 A>C	0.0	3713	MELANOMA	-	-	-	-	OVCH1-AS1	ENST00000551108,p.Q109H|uc031qgw.1,p.Q109H	protein_coding, processed_transcript	uc031qgw.1	nonsynonymous SNV	exon1	c.A327C	p.Q109H	IGRDRPSPDDNGQRPSGAWKVIKME	IGRDRPSPDDNGHRPSGAWKVIKME	1.0	7.0	unscreened	-	3713_12:29542765-29542765 A>C_IGRDRPSPDDNGHRPSGAWKVIKME
6:70778352-70778352 G>A	0.0	3713	MELANOMA	-	-	-	-	COL19A1	NM_001858,p.G403E|ENST00000322773,p.G403E|ENST00000393344,p.G25E|uc003pfc.1,p.G403E|uc010kam.2,p.G299E	protein_coding, processed_transcript	uc010kam.2	nonsynonymous SNV	exon11	c.G896A	p.G299E	GSLGIQGPQGPPGKEGQRGRRGKTG	GSLGIQGPQGPPEKEGQRGRRGKTG	1.0	6.0	unscreened	-	3713_6:70778352-70778352 G>A_GSLGIQGPQGPPEKEGQRGRRGKTG
13:28963969-28963969 C>T	0.0	3713	MELANOMA	-	-	-	-	FLT1	NM_002019,p.E645K|NM_001160030,p.E645K|uc001usb.3,p.E645K|ENST00000541932,p.E645K|uc010aar.1,p.E645K|ENST00000282397,p.E645K	protein_coding	uc010aar.1	nonsynonymous SNV	exon13	c.G1933A	p.E645K	TYACRARNVYTGEEILQKKEITIRD	TYACRARNVYTGKEILQKKEITIRD	5.0	6.0	unscreened	-	3713_13:28963969-28963969 C>T_TYACRARNVYTGKEILQKKEITIRD
3:184801199-184801199 G>A	0.0	3713	MELANOMA	-	-	-	-	C3orf70	NM_001025266,p.P117S|ENST00000335012,p.P117S|uc003fpd.3,p.P117S	protein_coding	uc003fpd.3	nonsynonymous SNV	exon2	c.C349T	p.P117S	FLKFASVFQPPLPPDSPRYCMISDL	FLKFASVFQPPLSPDSPRYCMISDL	2.0	7.0	unscreened	-	3713_3:184801199-184801199 G>A_FLKFASVFQPPLSPDSPRYCMISDL
19:327884-327884 G>A	1.0	3713	MELANOMA	-	-	-	-	MIER2	ENST00000264819,p.P117S|NM_017550,p.P117S|uc002lok.1,p.P117S	retained_intron, protein_coding	uc002lok.1	nonsynonymous SNV	exon4	c.C349T	p.P117S	RESEGGDVAPNLPDMTLDKEQIAKD	RESEGGDVAPNLSDMTLDKEQIAKD	4.0	4.0	-	-	3713_19:327884-327884 G>A_RESEGGDVAPNLSDMTLDKEQIAKD
18:70417649-70417649 T>G	0.0	3713	MELANOMA	-	-	-	-	NETO1	uc002lky.2,p.T397P|ENST00000327305,p.T397P|ENST00000583169,p.T397P|NM_138966,p.T397P|ENST00000299430,p.T396P|uc002lkw.3,p.T397P|NM_001201465,p.T397P	protein_coding, processed_transcript	uc002lky.2	nonsynonymous SNV	exon9	c.A1189C	p.T397P	QEVFEPPHYELCTLRGTGATADFAD	QEVFEPPHYELCPLRGTGATADFAD	2.0	5.0	unscreened	-	3713_18:70417649-70417649 T>G_QEVFEPPHYELCPLRGTGATADFAD
7:82763872-82763872 C>A	1.0	3713	MELANOMA	-	-	-	-	PCLO	uc003uhv.2,p.K998N|ENST00000423517,p.K998N|ENST00000333891,p.K998N|uc003uhx.2,p.K998N|NM_014510,p.K998N|NM_033026,p.K998N	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon3	c.G2994T	p.K998N	APPAPAKSIPVKKETKAPAAEKLEP	APPAPAKSIPVKNETKAPAAEKLEP	2.0	7.0	unscreened	-	3713_7:82763872-82763872 C>A_APPAPAKSIPVKNETKAPAAEKLEP
8:110491815-110491815 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1094929;OCCURENCE=1(endometrium)	-	PKHD1L1	ENST00000378402,p.R3042Q|NM_177531,p.R3042Q|uc003yne.3,p.R3042Q	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon54	c.G9125A	p.R3042Q	NLWSNDSFWQSSRENNYTVPHPGAN	NLWSNDSFWQSSQENNYTVPHPGAN	1.0	5.0	unscreened	-	3713_8:110491815-110491815 G>A_NLWSNDSFWQSSQENNYTVPHPGAN
X:21627699-21627699 G>A	1.0	3713	MELANOMA	-	-	-	-	CNKSR2	uc011mjo.2,p.E856K|NM_014927,p.E886K|uc004czw.3,p.E886K|uc004czx.2,p.E886K|NM_001168648,p.E886K|ENST00000425654,p.E856K|NM_001168649,p.E837K|uc004czy.3,p.E478K|ENST00000543067,p.E837K|ENST00000279451,p.E886K|ENST00000379510,p.E886K|NM_001168647,p.E856K|uc011mjn.2,p.E837K	protein_coding, processed_transcript	uc011mjo.2	nonsynonymous SNV	exon19	c.G2566A	p.E856K	PEVEEEEEEEEEEGEAAGENIGEKS	PEVEEEEEEEEEKGEAAGENIGEKS	3.0	8.0	unscreened	-	3713_X:21627699-21627699 G>A_PEVEEEEEEEEEKGEAAGENIGEKS
1:1396212-1396212 G>A	1.0	3713	MELANOMA	-	-	-	-	ATAD3C	NM_001039211,p.D299N|ENST00000378785,p.D299N|uc001aft.2,p.D299N	retained_intron, protein_coding	uc001aft.2	nonsynonymous SNV	exon10	c.G895A	p.D299N	AINACIDVMVHFDLPGQEERARLVR	AINACIDVMVHFNLPGQEERARLVR	4.0	4.0	unscreened	-	3713_1:1396212-1396212 G>A_AINACIDVMVHFNLPGQEERARLVR
18:55103218-55103218 G>T	1.0	3713	MELANOMA	-	-	-	-	ONECUT2	NM_004852,p.E90D|uc002lgo.3,p.E90D|ENST00000491143,p.E90D	protein_coding	uc002lgo.3	nonsynonymous SNV	exon1	c.G270T	p.E90D	LRGPPPPPTAHQELGTAAAAAAAAS	LRGPPPPPTAHQDLGTAAAAAAAAS	1.0	6.0	unscreened	-	3713_18:55103218-55103218 G>T_LRGPPPPPTAHQDLGTAAAAAAAAS
16:21213341-21213341 C>T	0.0	3713	MELANOMA	-	-	-	-	ZP2	ENST00000574091,p.E431K|ENST00000219593,p.E431K|ENST00000574002,p.E431K|NM_003460,p.E431K|uc010bwn.1,p.E470K|uc002dii.2,p.E431K|NM_001290104,p.E431K	retained_intron, protein_coding	uc010bwn.1	nonsynonymous SNV	exon12	c.G1408A	p.E470K	IPLNGCGTRYKFEDDKVVYENEIHA	IPLNGCGTRYKFKDDKVVYENEIHA	1.0	7.0	unscreened	-	3713_16:21213341-21213341 C>T_IPLNGCGTRYKFKDDKVVYENEIHA
1:207726117-207726117 C>T	0.0	3713	MELANOMA	-	-	-	-	CR1	ENST00000367051,p.P558S|NM_000651,p.P1008S|uc009xcj.1,p.P558S|uc001hfx.3,p.P1008S|uc001hfy.3,p.P558S|ENST00000367052,p.P1008S|NM_000573,p.P558S|ENST00000367049,p.P1008S	retained_intron, protein_coding, processed_transcript	uc009xcj.1	nonsynonymous SNV	exon11	c.C1672T	p.P558S	KDVCKRKSCKTPPDPVNGMVHVITD	KDVCKRKSCKTPSDPVNGMVHVITD	3.0	5.0	unscreened	-	3713_1:207726117-207726117 C>T_KDVCKRKSCKTPSDPVNGMVHVITD
5:111755820-111755820 G>A	0.0	3713	MELANOMA	-	-	-	-	EPB41L4A-AS2	ENST00000600409,p.E176K|uc003kpx.2,p.E176K	protein_coding	uc003kpx.2	nonsynonymous SNV	exon1	c.G526A	p.E176K	GPGPGVCKKPWNEADPPVQRWPRQG	GPGPGVCKKPWNKADPPVQRWPRQG	1.0	7.0	unscreened	-	3713_5:111755820-111755820 G>A_GPGPGVCKKPWNKADPPVQRWPRQG
2:179482602-179482602 C>T	0.0	3713	MELANOMA	-	-	-	-	TTN	NM_133432,p.G6886R|NM_003319,p.G6761R|ENST00000359218,p.G6886R|ENST00000342992,p.G13258R|uc021vta.2,p.G6886R|ENST00000589042,p.G15826R|ENST00000342175,p.G6953R|ENST00000460472,p.G6761R|uc031rqd.1,p.G14185R|NM_001256850,p.G14185R|ENST00000591111,p.G14185R|NM_133378,p.G13258R|NM_133437,p.G6953R|NM_001267550,p.G15826R|uc021vsy.2,p.G13258R|uc021vtb.2,p.G6761R|uc031rqc.1,p.G15826R|uc021vsz.2,p.G6953R	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon203	c.G42553A	p.G14185R	EDLSATVTDVVEGQEYSFRVRAQNR	EDLSATVTDVVERQEYSFRVRAQNR	1.0	4.0	unscreened	-	3713_2:179482602-179482602 C>T_EDLSATVTDVVERQEYSFRVRAQNR
19:56424552-56424552 C>T	0.0	3713	MELANOMA	-	-	-	-	NLRP13	NM_176810,p.E211K|ENST00000342929,p.E211K|ENST00000588751,p.E211K|uc010ygg.2,p.E211K	protein_coding	uc010ygg.2	nonsynonymous SNV	exon5	c.G631A	p.E211K	KDHVYIRNTSKDEHEELQRLLDPNR	KDHVYIRNTSKDKHEELQRLLDPNR	1.0	3.0	unscreened	-	3713_19:56424552-56424552 C>T_KDHVYIRNTSKDKHEELQRLLDPNR
16:27818871-27818871 C>T	0.0	3713	MELANOMA	-	-	-	-	GSG1L	NM_001109763,p.E279K|ENST00000447459,p.E279K|uc002doy.2,p.E124K|ENST00000380897,p.E124K|uc002doz.2,p.E279K|NM_144675,p.E124K|ENST00000395724,p.E228K|uc010bya.1,p.E228K	protein_coding, nonsense_mediated_decay	uc010bya.1	nonsynonymous SNV	exon5	c.G682A	p.E228K	DPEAIKYFRERMEKRDGSEEDFHLD	DPEAIKYFRERMKKRDGSEEDFHLD	1.0	3.0	unscreened	-	3713_16:27818871-27818871 C>T_DPEAIKYFRERMKKRDGSEEDFHLD
2:110015172-110015172 A>G	0.0	3713	MELANOMA	-	-	-	-	SH3RF3	ENST00000309415,p.S358G|NM_001099289,p.S358G|ENST00000418513,p.S358G|uc010ywt.1,p.S358G	protein_coding	uc010ywt.1	nonsynonymous SNV	exon4	c.A1072G	p.S358G	GAVASVAPSPTLSSSGAVSAFQRRV	GAVASVAPSPTLGSSGAVSAFQRRV	2.0	5.0	unscreened	-	3713_2:110015172-110015172 A>G_GAVASVAPSPTLGSSGAVSAFQRRV
15:32738683-32738683 C>T	0.0	3713	MELANOMA	-	-	-	-	GOLGA8O	NM_001277308,p.E454K|ENST00000509311,p.E454K|uc031qrg.1,p.E454K	protein_coding	uc031qrg.1	nonsynonymous SNV	exon15	c.G1360A	p.E454K	PMPSVPEDPESREAMSSFMDHLKEK	PMPSVPEDPESRKAMSSFMDHLKEK	2.0	3.0	unscreened	-	3713_15:32738683-32738683 C>T_PMPSVPEDPESRKAMSSFMDHLKEK
2:26696363-26696363 C>T	0.0	3713	MELANOMA	-	-	-	-	OTOF	ENST00000272371,p.E1161K|NM_004802,p.E414K|ENST00000403946,p.E1161K|NM_194248,p.E1161K|ENST00000402415,p.E471K|ENST00000338581,p.E414K|NM_194323,p.E414K|uc002rhh.3,p.E414K|NM_001287489,p.E1161K|ENST00000339598,p.E414K|uc002rhj.3,p.E414K|NM_194322,p.E471K|uc002rhi.3,p.E471K|uc002rhk.3,p.E1161K	retained_intron, protein_coding	uc002rhk.3	nonsynonymous SNV	exon28	c.G3481A	p.E1161K	NLAQVDRPRVDIECAGKGVQSSLIH	NLAQVDRPRVDIKCAGKGVQSSLIH	1.0	3.0	unscreened	-	3713_2:26696363-26696363 C>T_NLAQVDRPRVDIKCAGKGVQSSLIH
18:19080591-19080591 G>A	0.0	3713	MELANOMA	-	-	-	-	GREB1L	uc010dlr.1,p.E465K|ENST00000269218,p.E1245K|NM_001142966,p.E1354K|ENST00000424526,p.E1354K|uc010xam.2,p.E1354K|ENST00000580732,p.E1354K|uc010xan.1,p.E770K	retained_intron, protein_coding, processed_transcript	uc010xan.1	nonsynonymous SNV	exon11	c.G2308A	p.E770K	IRLLEVDVYDEEEINTDHNESSEVS	IRLLEVDVYDEEKINTDHNESSEVS	1.0	6.0	unscreened	-	3713_18:19080591-19080591 G>A_IRLLEVDVYDEEKINTDHNESSEVS
7:45124913-45124913 C>T	0.0	3713	MELANOMA	-	-	-	-	NACAD	NM_001146334,p.G289D|uc003tmt.3,p.G289D|ENST00000490531,p.G289D	retained_intron, protein_coding	uc003tmt.3	nonsynonymous SNV	exon2	c.G866A	p.G289D	ESSLSADSSSSWGQEGHFFDLDFLA	ESSLSADSSSSWDQEGHFFDLDFLA	2.0	7.0	unscreened	-	3713_7:45124913-45124913 C>T_ESSLSADSSSSWDQEGHFFDLDFLA
7:144069807-144069807 C>T	0.0	3713	MELANOMA	-	-	-	-	ARHGEF5	uc003wek.3,p.S1336L|ENST00000471847,p.S258L|NM_005435,p.S1336L|ENST00000056217,p.S1336L|uc003wem.3,p.S191L|uc003wel.3,p.S1336L	protein_coding	uc003wem.3	nonsynonymous SNV	exon5	c.C572T	p.S191L	LQNILKRTQPGSSEEAEATKAHHAL	LQNILKRTQPGSLEEAEATKAHHAL	1.0	3.0	unscreened	-	3713_7:144069807-144069807 C>T_LQNILKRTQPGSLEEAEATKAHHAL
16:19195177-19195177 C>T	0.0	3713	MELANOMA	-	-	-	-	SYT17	ENST00000562034,p.S159L|ENST00000562711,p.S216L|uc002dfx.3,p.S159L|uc002dfw.3,p.S220L|ENST00000355377,p.S220L|ENST00000568115,p.S159L|uc002dfy.3,p.S216L|NM_016524,p.S220L	retained_intron, protein_coding, nonsense_mediated_decay	uc002dfy.3	nonsynonymous SNV	exon5	c.C647T	p.S216L	ARDLPPPISHDGSRQDMAHSNPYVK	ARDLPPPISHDGLRQDMAHSNPYVK	2.0	3.0	unscreened	-	3713_16:19195177-19195177 C>T_ARDLPPPISHDGLRQDMAHSNPYVK
2:231174702-231174702 T>G	1.0	3713	MELANOMA	-	-	-	-	SP140	NM_001278452,p.C648G|uc002vqm.3,p.C648G|ENST00000417495,p.C594G|ENST00000343805,p.C648G|uc010fxl.3,p.C681G|uc002vqn.3,p.C594G|ENST00000486687,p.C632G|uc002vql.3,p.C708G|ENST00000350136,p.C577G|NM_001278451,p.C681G|ENST00000420434,p.C681G|ENST00000392045,p.C708G|NM_001278453,p.C594G|NM_007237,p.C708G	retained_intron, protein_coding, processed_transcript	uc010fxl.3	nonsynonymous SNV	exon22	c.T2041G	p.C681G	CRDGGELFCCDTCSRVFHEDCHIPP	CRDGGELFCCDTGSRVFHEDCHIPP	5.0	5.0	unscreened	-	3713_2:231174702-231174702 T>G_CRDGGELFCCDTGSRVFHEDCHIPP
X:142718573-142718573 C>T	0.0	3713	MELANOMA	-	-	-	-	SLITRK4	ENST00000338017,p.E118K|ENST00000381779,p.E118K|NM_001184749,p.E118K|uc022cfm.1,p.E118K|ENST00000356928,p.E118K|NM_001184750,p.E118K|uc004fby.3,p.E118K|uc004fbx.3,p.E118K|NM_173078,p.E118K|uc022cfl.1,p.E118K	protein_coding	uc022cfm.1	nonsynonymous SNV	exon1	c.G352A	p.E118K	LSALKQLHLNNNELKILRADTFLGI	LSALKQLHLNNNKLKILRADTFLGI	1.0	7.0	unscreened	-	3713_X:142718573-142718573 C>T_LSALKQLHLNNNKLKILRADTFLGI
20:3211996-3211996 G>A	0.0	3713	MELANOMA	-	-	-	-	SLC4A11	ENST00000539553,p.P310S|NM_001174089,p.P310S|ENST00000380056,p.P326S|uc010zqf.2,p.P310S|NM_001174090,p.P353S|uc002wig.3,p.P326S|ENST00000380059,p.P353S|NM_032034,p.P326S|uc010zqe.2,p.P353S	protein_coding, processed_transcript	uc010zqf.2	nonsynonymous SNV	exon8	c.C928T	p.P310S	APRTKERSTVSLPAHRHPEPPKCKD	APRTKERSTVSLSAHRHPEPPKCKD	1.0	4.0	unscreened	-	3713_20:3211996-3211996 G>A_APRTKERSTVSLSAHRHPEPPKCKD
X:135572638-135572638 A>G	0.0	3713	MELANOMA	-	-	-	-	BRS3	uc004ezv.1,p.K261E|NM_001727,p.K261E|ENST00000370648,p.K261E	protein_coding	uc004ezv.1	nonsynonymous SNV	exon2	c.A781G	p.K261E	LNIPTEEQSHARKQIESRKRIARTV	LNIPTEEQSHAREQIESRKRIARTV	1.0	6.0	unscreened	-	3713_X:135572638-135572638 A>G_LNIPTEEQSHAREQIESRKRIARTV
X:101095565-101095565 C>T	0.0	3713	MELANOMA	-	-	-	-	NXF5	ENST00000263032,p.E202K|ENST00000372803,p.E202K|NM_032946,p.E202K|ENST00000537026,p.E202K|ENST00000361708,p.E202K|ENST00000361330,p.E139K|uc011mrk.1,p.E202K|ENST00000473265,p.E202K|ENST00000332614,p.E139K	protein_coding, nonsense_mediated_decay	uc011mrk.1	nonsynonymous SNV	exon10	c.G604A	p.E202K	LNLSKNKLESAWELGKVKGLKLEEL	LNLSKNKLESAWKLGKVKGLKLEEL	1.0	5.0	unscreened	-	3713_X:101095565-101095565 C>T_LNLSKNKLESAWKLGKVKGLKLEEL
12:130921671-130921671 G>A	0.0	3713	MELANOMA	-	-	-	-	RIMBP2	uc001uim.3,p.P499S|ENST00000261655,p.P591S|uc001uil.2,p.P591S|NM_015347,p.P591S|ENST00000535703,p.P499S|ENST00000536002,p.P499S	retained_intron, protein_coding, nonsense_mediated_decay	uc001uim.3	nonsynonymous SNV	exon14	c.C1495T	p.P499S	AAVPPELLVPPTPHPRPAPQSKPLA	AAVPPELLVPPTSHPRPAPQSKPLA	1.0	7.0	unscreened	-	3713_12:130921671-130921671 G>A_AAVPPELLVPPTSHPRPAPQSKPLA
18:25572657-25572657 C>T	0.0	3713	MELANOMA	-	-	-	-	CDH2	NM_001792,p.D436N|ENST00000269141,p.D436N|ENST00000399380,p.D405N|uc002kwg.2,p.D436N|uc010xbn.1,p.D405N	protein_coding	uc010xbn.1	nonsynonymous SNV	exon8	c.G1213A	p.D405N	GGDPTGRFAIQTDPNSNDGLVTVVK	GGDPTGRFAIQTNPNSNDGLVTVVK	1.0	4.0	unscreened	-	3713_18:25572657-25572657 C>T_GGDPTGRFAIQTNPNSNDGLVTVVK
4:104510988-104510988 C>T	0.0	3713	MELANOMA	-	-	ID=COSM141093;OCCURENCE=1(upper_aerodigestive_tract),1(large_intestine)	-	TACR3	uc003hxe.1,p.D417N|ENST00000304883,p.D417N|NM_001059,p.D417N	protein_coding	uc003hxe.1	nonsynonymous SNV	exon5	c.G1249A	p.D417N	RMESMTVVFDPNDADTTRSSRKKRA	RMESMTVVFDPNNADTTRSSRKKRA	1.0	3.0	unscreened	-	3713_4:104510988-104510988 C>T_RMESMTVVFDPNNADTTRSSRKKRA
7:19184586-19184586 C>T	0.0	3713	MELANOMA	-	-	-	-	FERD3L	NM_152898,p.E134K|ENST00000275461,p.E134K|uc003suo.1,p.E134K	protein_coding	uc003suo.1	nonsynonymous SNV	exon1	c.G400A	p.E134K	DQLRRKVPTFAYEKRLSRIETLRLA	DQLRRKVPTFAYKKRLSRIETLRLA	1.0	6.0	unscreened	-	3713_7:19184586-19184586 C>T_DQLRRKVPTFAYKKRLSRIETLRLA
X:12938465-12938465 G>A	0.0	3713	MELANOMA	-	-	-	-	TLR8	ENST00000311912,p.D454N|NM_016610,p.D454N|uc004cve.3,p.D436N|uc004cvd.3,p.D454N|NM_138636,p.D436N|ENST00000218032,p.D436N	protein_coding	uc004cve.3	nonsynonymous SNV	exon2	c.G1306A	p.D436N	YLSENRISPLVKDTRQSYANSSSFQ	YLSENRISPLVKNTRQSYANSSSFQ	4.0	7.0	unscreened	-	3713_X:12938465-12938465 G>A_YLSENRISPLVKNTRQSYANSSSFQ
5:140255958-140255958 G>A	0.0	3713	MELANOMA	-	-	-	-	PCDHA12	uc003lic.2,p.E301K|uc011daf.2,p.E301K|NM_018903,p.E301K|NM_031864,p.E301K|ENST00000398631,p.E301K	protein_coding	uc011daf.2	nonsynonymous SNV	exon1	c.G901A	p.E301K	EKCMFSINPDTGEIRIYGELDFEEN	EKCMFSINPDTGKIRIYGELDFEEN	1.0	6.0	unscreened	-	3713_5:140255958-140255958 G>A_EKCMFSINPDTGKIRIYGELDFEEN
2:234240348-234240348 G>A	0.0	3713	MELANOMA	-	-	-	-	SAG	ENST00000449594,p.E132K|uc031rrv.1,p.E132K|uc010zmq.1,p.E132K|uc002vuh.2,p.E266K|NM_000541,p.E266K|ENST00000409110,p.E266K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rrv.1	nonsynonymous SNV	exon7	c.G394A	p.E132K	YSSDYYVKPVAMEEAQEKVPPNSTL	YSSDYYVKPVAMKEAQEKVPPNSTL	1.0	3.0	unscreened	-	3713_2:234240348-234240348 G>A_YSSDYYVKPVAMKEAQEKVPPNSTL
4:52938181-52938181 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1429999,COSM1430000;OCCURENCE=1(large_intestine)	-	SPATA18	NM_145263,p.R206Q|uc003gzk.1,p.R206Q|uc003gzl.3,p.R206Q|ENST00000295213,p.R206Q|uc011bzq.2,p.R174Q|ENST00000419395,p.R174Q|NM_001297608,p.R174Q|ENST00000505320,p.R206Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bzq.2	nonsynonymous SNV	exon5	c.G521A	p.R174Q	ENRRSEPWSLEERKREQWNSLKQNA	ENRRSEPWSLEEQKREQWNSLKQNA	1.0	4.0	unscreened	-	3713_4:52938181-52938181 G>A_ENRRSEPWSLEEQKREQWNSLKQNA
6:43222378-43222378 G>A	0.0	3713	MELANOMA	-	-	-	-	TTBK1	uc003ouq.1,p.D189N|ENST00000259750,p.D189N|NM_032538,p.D189N|ENST00000304139,p.D138N	protein_coding	uc003ouq.1	nonsynonymous SNV	exon6	c.G565A	p.D189N	FGLARQYTNTTGDVRPPRNVAGFRG	FGLARQYTNTTGNVRPPRNVAGFRG	1.0	7.0	unscreened	-	3713_6:43222378-43222378 G>A_FGLARQYTNTTGNVRPPRNVAGFRG
7:120387848-120387848 G>A	0.0	3713	MELANOMA	-	-	-	-	KCND2	NM_012281,p.G610E|uc003vjj.1,p.G610E|ENST00000331113,p.G610E	retained_intron, protein_coding	uc003vjj.1	nonsynonymous SNV	exon6	c.G1829A	p.G610E	ISIPTPPVTTPEGDDRPESPEYSGG	ISIPTPPVTTPEEDDRPESPEYSGG	1.0	6.0	unscreened	-	3713_7:120387848-120387848 G>A_ISIPTPPVTTPEEDDRPESPEYSGG
2:196825336-196825336 G>A	0.0	3713	MELANOMA	-	-	-	-	DNAH7	uc002utj.4,p.P847S|ENST00000312428,p.P847S|NM_018897,p.P847S	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon18	c.C2539T	p.P847S	KQHIPLIQVICNPGLRPRHWEAMSA	KQHIPLIQVICNSGLRPRHWEAMSA	1.0	5.0	unscreened	-	3713_2:196825336-196825336 G>A_KQHIPLIQVICNSGLRPRHWEAMSA
X:104464349-104464349 C>T	0.0	3713	MELANOMA	-	-	-	-	TEX13A	uc004ema.3,p.E177K|ENST00000413579,p.E177K|NM_031274,p.E177K|NM_001291277,p.E177K|ENST00000372578,p.E177K|ENST00000372575,p.E177K|uc004emb.3,p.E177K	protein_coding	uc004emb.3	nonsynonymous SNV	exon3	c.G529A	p.E177K	AGGVCTEGAAEEEEEAAVAAAGAAG	AGGVCTEGAAEEKEEAAVAAAGAAG	1.0	7.0	unscreened	-	3713_X:104464349-104464349 C>T_AGGVCTEGAAEEKEEAAVAAAGAAG
2:170667714-170667714 G>A	1.0	3713	MELANOMA	-	-	-	-	SSB	ENST00000409333,p.G340E|uc002ufk.3,p.G340E|NM_003142,p.G340E|uc002ufm.3,p.G340E|ENST00000260956,p.G340E|NM_001294145,p.G340E	retained_intron, protein_coding, nonsense_mediated_decay	uc002ufm.3	nonsynonymous SNV	exon11	c.G1019A	p.G340E	KWKSKGRRFKGKGKGNKAAQPGSGK	KWKSKGRRFKGKEKGNKAAQPGSGK	8.0	6.0	-	-	3713_2:170667714-170667714 G>A_KWKSKGRRFKGKEKGNKAAQPGSGK
3:52420810-52420810 G>A	1.0	3713	MELANOMA	-	-	-	-	DNAH1	uc011bef.2,p.G2982S|NM_015512,p.G2982S|ENST00000420323,p.G2982S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bef.2	nonsynonymous SNV	exon56	c.G8944A	p.G2982S	KPGTKVDDYWEPGKGLLQDPGHFLE	KPGTKVDDYWEPSKGLLQDPGHFLE	5.0	7.0	unscreened	-	3713_3:52420810-52420810 G>A_KPGTKVDDYWEPSKGLLQDPGHFLE
2:138163326-138163326 C>T	0.0	3713	MELANOMA	-	-	-	-	THSD7B	ENST00000272643,p.P882S|uc002tvb.3,p.P741S|uc002tva.1,p.P851S|ENST00000409968,p.P882S|ENST00000413152,p.P851S	retained_intron, protein_coding, processed_transcript	uc002tvb.3	nonsynonymous SNV	exon11	c.C2221T	p.P741S	EDCTFTAWSKFTPCSTNCEATKSRR	EDCTFTAWSKFTSCSTNCEATKSRR	1.0	6.0	unscreened	-	3713_2:138163326-138163326 C>T_EDCTFTAWSKFTSCSTNCEATKSRR
16:3107347-3107347 G>A	1.0	3713	MELANOMA	-	-	-	-	MMP25	uc002cth.3,p.R292K|ENST00000336577,p.R292K|NM_022468,p.R292K	retained_intron, protein_coding, processed_transcript	uc002cth.3	nonsynonymous SNV	exon6	c.G875A	p.R292K	GKAPQTPYDKPTRKPLAPPPQPPAS	GKAPQTPYDKPTKKPLAPPPQPPAS	3.0	7.0	unscreened	-	3713_16:3107347-3107347 G>A_GKAPQTPYDKPTKKPLAPPPQPPAS
3:148562468-148562468 G>A	0.0	3713	MELANOMA	-	-	ID=COSM582016;OCCURENCE=1(lung)	-	CPB1	ENST00000282957,p.R231Q|NM_001871,p.R231Q|ENST00000491148,p.R231Q|uc003ewl.3,p.R231Q	retained_intron, protein_coding, processed_transcript	uc003ewl.3	nonsynonymous SNV	exon8	c.G692A	p.R231Q	NIDGYIYTWTKSRFWRKTRSTHTGS	NIDGYIYTWTKSQFWRKTRSTHTGS	1.0	4.0	unscreened	-	3713_3:148562468-148562468 G>A_NIDGYIYTWTKSQFWRKTRSTHTGS
7:48506557-48506557 G>A	0.0	3713	MELANOMA	-	-	-	-	ABCA13	NM_152701,p.G4274R|uc003toq.2,p.G4274R|ENST00000435803,p.G4274R	retained_intron, protein_coding, nonsense_mediated_decay	uc003toq.2	nonsynonymous SNV	exon44	c.G12820A	p.G4274R	HYQRAETYFFSSGGDNLDLTRVLLR	HYQRAETYFFSSRGDNLDLTRVLLR	1.0	5.0	unscreened	-	3713_7:48506557-48506557 G>A_HYQRAETYFFSSRGDNLDLTRVLLR
10:55569084-55569084 C>T	0.0	3713	MELANOMA	-	-	-	-	PCDH15	ENST00000395445,p.E1576K|ENST00000395440,p.E510K|ENST00000395442,p.E441K|uc010qht.2,p.E1574K|ENST00000395446,p.E772K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qht.2	nonsynonymous SNV	exon35	c.G4720A	p.E1574K	DLEGEEWQRRLEEEDKDYLKLTLDQ	DLEGEEWQRRLEKEDKDYLKLTLDQ	1.0	6.0	unscreened	-	3713_10:55569084-55569084 C>T_DLEGEEWQRRLEKEDKDYLKLTLDQ
1:201165092-201165092 G>A	1.0	3713	MELANOMA	-	-	-	-	IGFN1	ENST00000335211,p.E85K|uc001gwc.3,p.E85K|NM_001164586,p.E85K|ENST00000451870,p.E85K|ENST00000437879,p.E85K	retained_intron, protein_coding, nonsense_mediated_decay	uc001gwc.3	nonsynonymous SNV	exon4	c.G253A	p.E85K	SKYKISSSPGSKEHVLQINKLTGED	SKYKISSSPGSKKHVLQINKLTGED	1.0	5.0	-	-	3713_1:201165092-201165092 G>A_SKYKISSSPGSKKHVLQINKLTGED
4:47839936-47839936 C>T	0.0	3713	MELANOMA	-	-	-	-	CORIN	NM_006587,p.E11K|uc011bzi.1,p.E11K|NM_001278585,p.E11K|uc003gxm.3,p.E11K|ENST00000273857,p.E11K|uc011bzh.1,p.E11K|NM_001278586,p.E11K|uc003gxn.4,p.E11K|ENST00000502252,p.E11K|ENST00000505909,p.E11K|uc011bzg.2,p.E11K|ENST00000504584,p.E11K	retained_intron, protein_coding, processed_transcript	uc011bzi.1	nonsynonymous SNV	exon1	c.G31A	p.E11K	MKQSPALAPEERCRRAGSPKPVL	MKQSPALAPEKRCRRAGSPKPVL	1.0	3.0	unscreened	-	3713_4:47839936-47839936 C>T_MKQSPALAPEKRCRRAGSPKPVL
3:115395298-115395298 G>A	0.0	3713	MELANOMA	-	-	-	-	GAP43	NM_001130064,p.E193K|ENST00000305124,p.E157K|uc003ebr.2,p.E193K|uc003ebq.2,p.E157K|NM_002045,p.E157K|ENST00000393780,p.E193K	protein_coding	uc003ebr.2	nonsynonymous SNV	exon3	c.G577A	p.E193K	KASTDNSPSSKAEDAPAKEEPKQAD	KASTDNSPSSKAKDAPAKEEPKQAD	1.0	3.0	unscreened	-	3713_3:115395298-115395298 G>A_KASTDNSPSSKAKDAPAKEEPKQAD
5:135551900-135551900 C>T	0.0	3713	MELANOMA	-	-	-	-	TRPC7	NM_001167577,p.E742K|uc010jej.2,p.E354K|ENST00000355180,p.E742K|uc010jeh.2,p.E742K|ENST00000513104,p.E803K|NM_020389,p.E803K|uc003lbn.2,p.E803K|uc010jei.2,p.E687K|NM_001167576,p.E687K|uc010jef.2,p.E739K|ENST00000426057,p.E687K	retained_intron, protein_coding, nonsense_mediated_decay	uc010jej.2	nonsynonymous SNV	exon7	c.G1060A	p.E354K	YVLKAQVDRENDEVNEGELKEIKQD	YVLKAQVDRENDKVNEGELKEIKQD	1.0	7.0	unscreened	-	3713_5:135551900-135551900 C>T_YVLKAQVDRENDKVNEGELKEIKQD
3:157271049-157271049 G>A	1.0	3713	MELANOMA	-	-	-	-	PQLC2L	ENST00000426338,p.M1I|ENST00000459838,p.M1I|NM_001130002,p.M1I|ENST00000312275,p.M1I|ENST00000449199,p.M1I|uc010hvv.3,p.M1I|uc003fbo.3,p.M1I|NM_001130001,p.M1I|NM_001099777,p.M1I|uc003fbp.4,p.M1I|ENST00000461040,p.M1I|NM_001243729,p.M1I|ENST00000468043,p.M1I|uc011bot.2,p.M1I	protein_coding, processed_transcript	uc011bot.2	nonsynonymous SNV	exon2	c.G3A	p.M1I	MKVVGNYRVNTAN	IKVVGNYRVNTAN	1.0	3.0	unscreened	-	3713_3:157271049-157271049 G>A_IKVVGNYRVNTAN
7:129856247-129856247 G>A	0.0	3713	MELANOMA	-	-	-	-	SSMEM1	uc003vpp.3,p.M224I|ENST00000297819,p.M224I|NM_145268,p.M224I	protein_coding	uc003vpp.3	nonsynonymous SNV	exon3	c.G672A	p.M224I	HHSRQKPSVTPPMKRDSQEESSISD	HHSRQKPSVTPPIKRDSQEESSISD	1.0	3.0	unscreened	-	3713_7:129856247-129856247 G>A_HHSRQKPSVTPPIKRDSQEESSISD
4:2460893-2460893 G>A	0.0	3713	MELANOMA	-	-	-	-	CFAP99	uc021xkr.1,p.E455K|NM_001193282,p.E455K|ENST00000506607,p.E200K	protein_coding	uc021xkr.1	nonsynonymous SNV	exon13	c.G1363A	p.E455K	RGLLQRRAQAAQEEQRRRCELISQL	RGLLQRRAQAAQKEQRRRCELISQL	1.0	3.0	unscreened	-	3713_4:2460893-2460893 G>A_RGLLQRRAQAAQKEQRRRCELISQL
1:29631346-29631346 G>A	0.0	3713	MELANOMA	-	-	-	-	PTPRU	ENST00000323874,p.E910K|ENST00000356870,p.E910K|NM_001195001,p.E910K|ENST00000460170,p.E910K|ENST00000428026,p.E910K|uc009vtq.3,p.E910K|uc009vtr.3,p.E910K|NM_005704,p.E920K|ENST00000373779,p.E910K|uc001brw.3,p.E910K|ENST00000345512,p.E920K|NM_133178,p.E910K|uc001bru.3,p.E920K|NM_133177,p.E910K	retained_intron, protein_coding, processed_transcript	uc009vtr.3	nonsynonymous SNV	exon17	c.G2728A	p.E910K	TKKKDKVKGSRQEPMPAYDRHRVKL	TKKKDKVKGSRQKPMPAYDRHRVKL	2.0	4.0	unscreened	-	3713_1:29631346-29631346 G>A_TKKKDKVKGSRQKPMPAYDRHRVKL
18:28972248-28972248 G>T	0.0	3713	MELANOMA	-	-	ID=COSM1290810,COSM1290809;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	DSG4	NM_177986,p.W317L|NM_001134453,p.W317L|ENST00000308128,p.W317L|uc002kwq.2,p.W317L|uc002kwr.2,p.W317L|ENST00000359747,p.W317L	protein_coding	uc002kwr.2	nonsynonymous SNV	exon8	c.G950T	p.W317L	AQYLILSGNDGNWFDIQTDPQTNEG	AQYLILSGNDGNLFDIQTDPQTNEG	1.0	6.0	unscreened	-	3713_18:28972248-28972248 G>T_AQYLILSGNDGNLFDIQTDPQTNEG
19:38379954-38379954 C>T	0.0	3713	MELANOMA	-	-	-	-	WDR87	ENST00000447313,p.G1453R|NM_001291088,p.G1453R|ENST00000303868,p.G1414R|uc002ohj.2,p.G1453R|uc010efu.2,p.G1414R|NM_031951,p.G1414R	retained_intron, protein_coding	uc010efu.2	nonsynonymous SNV	exon6	c.G4240A	p.G1414R	QGRKAVQKERKVGKIKREMTKEERD	QGRKAVQKERKVRKIKREMTKEERD	1.0	6.0	unscreened	-	3713_19:38379954-38379954 C>T_QGRKAVQKERKVRKIKREMTKEERD
3:49899588-49899588 G>A	0.0	3713	MELANOMA	-	-	-	-	CAMKV	uc011bcz.1,p.S16F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bcz.1	nonsynonymous SNV	exon3	c.C47T	p.S16F	DRSSRLRSFVKSSGPRTRRQASCTP	DRSSRLRSFVKSFGPRTRRQASCTP	1.0	3.0	unscreened	-	3713_3:49899588-49899588 G>A_DRSSRLRSFVKSFGPRTRRQASCTP
1:145474658-145474658 G>A	1.0	3713	MELANOMA	-	-	-	-	ANKRD34A	ENST00000323397,p.G444R|uc021ouy.1,p.G444R|uc001enq.1,p.G444R|NM_001039888,p.G444R	protein_coding	uc021ouy.1	nonsynonymous SNV	exon1	c.G1330A	p.G444R	PHPPIPDIRPQPGGRAPSLPAPPYA	PHPPIPDIRPQPRGRAPSLPAPPYA	2.0	3.0	unscreened	-	3713_1:145474658-145474658 G>A_PHPPIPDIRPQPRGRAPSLPAPPYA
19:4409100-4409100 T>A	1.0	3713	MELANOMA	-	-	-	-	CHAF1A	NM_005483,p.L102I|uc002mal.3,p.L102I|ENST00000301280,p.L102I|ENST00000585854,p.L85I	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mal.3	nonsynonymous SNV	exon3	c.T304A	p.L102I	KLVNGKGPLDNFLRNRIETSIGQST	KLVNGKGPLDNFIRNRIETSIGQST	5.0	5.0	-	-	3713_19:4409100-4409100 T>A_KLVNGKGPLDNFIRNRIETSIGQST
7:57188083-57188083 G>A	0.0	3713	MELANOMA	-	-	-	2	ZNF479	NM_033273,p.H347Y|ENST00000331162,p.H347Y|uc010kzo.3,p.H347Y	protein_coding	uc010kzo.3	nonsynonymous SNV	exon5	c.C1039T	p.H347Y	SWSSNLTRHKRIHTREKPYACEECG	SWSSNLTRHKRIYTREKPYACEECG	1.0	7.0	unscreened	-	3713_7:57188083-57188083 G>A_SWSSNLTRHKRIYTREKPYACEECG
3:140265476-140265476 G>A	0.0	3713	MELANOMA	-	-	-	-	CLSTN2	uc003etm.2,p.E543K|uc003etn.3,p.E543K|NM_022131,p.E543K|ENST00000458420,p.E543K	retained_intron, protein_coding	uc003etn.3	nonsynonymous SNV	exon10	c.G1627A	p.E543K	SQKVISCLQACKEGLDINSLESLGQ	SQKVISCLQACKKGLDINSLESLGQ	1.0	3.0	unscreened	-	3713_3:140265476-140265476 G>A_SQKVISCLQACKKGLDINSLESLGQ
10:62631290-62631290 G>A	1.0	3713	MELANOMA	-	-	ID=COSM919334;OCCURENCE=1(endometrium)	-	RHOBTB1	uc001jli.3,p.R681C|NM_014836,p.R681C|uc001jlk.3,p.R681C|ENST00000337910,p.R681C|uc001jlh.3,p.R681C|uc001jlj.3,p.R681C|ENST00000357917,p.R681C|NM_001242359,p.R681C|uc009xpe.2,p.R619C	protein_coding, processed_transcript	uc009xpe.2	nonsynonymous SNV	exon9	c.C1855T	p.R619C	EREKEDIALNKHRSRRKWCFWNSSP	EREKEDIALNKHCSRRKWCFWNSSP	5.0	6.0	-	-	3713_10:62631290-62631290 G>A_EREKEDIALNKHCSRRKWCFWNSSP
12:11545919-11545919 T>G	0.0	3713	MELANOMA	-	-	-	-	PRB2	ENST00000389362,p.K365Q|uc010shk.1,p.K365Q|NM_006248,p.K365Q	protein_coding, processed_transcript	uc010shk.1	nonsynonymous SNV	exon3	c.A1093C	p.K365Q	GSKSRSARSPPGKPQGPPQQEGNNP	GSKSRSARSPPGQPQGPPQQEGNNP	1.0	3.0	unscreened	-	3713_12:11545919-11545919 T>G_GSKSRSARSPPGQPQGPPQQEGNNP
12:78513190-78513190 G>A	1.0	3713	MELANOMA	-	-	-	-	NAV3	uc001syo.3,p.G1072R|ENST00000397909,p.G1072R|ENST00000536525,p.G1072R|ENST00000266692,p.G1072R|NM_001024383,p.G1072R|uc009zsf.3,p.G80R|uc001syp.3,p.G1072R|ENST00000228327,p.G1072R|uc010sub.2,p.G572R|NM_014903,p.G1072R	retained_intron, protein_coding, processed_transcript	uc010sub.2	nonsynonymous SNV	exon7	c.G1714A	p.G572R	TATSSFGFKKPSGVGSSAMITSSGA	TATSSFGFKKPSRVGSSAMITSSGA	4.0	6.0	-	-	3713_12:78513190-78513190 G>A_TATSSFGFKKPSRVGSSAMITSSGA
16:1399577-1399577 G>A	1.0	3713	MELANOMA	-	-	-	-	TSR3	NM_001001410,p.S267F|uc002cll.3,p.S267F|ENST00000007390,p.S267F	protein_coding, nonsense_mediated_decay	uc002cll.3	nonsynonymous SNV	exon6	c.C800T	p.S267F	TRLPSDTDDSDASEDPGPGAERGGA	TRLPSDTDDSDAFEDPGPGAERGGA	5.0	3.0	-	-	3713_16:1399577-1399577 G>A_TRLPSDTDDSDAFEDPGPGAERGGA
1:158812191-158812191 G>A	0.0	3713	MELANOMA	-	-	ID=COSM381186;OCCURENCE=1(lung),2(endometrium),2(large_intestine)	-	MNDA	uc001fsz.1,p.R83Q|NM_002432,p.R83Q|ENST00000368141,p.R83Q	protein_coding, processed_transcript	uc001fsz.1	nonsynonymous SNV	exon2	c.G248A	p.R83Q	DMPSLKNLVNNLRKEKSKVAKKIKT	DMPSLKNLVNNLQKEKSKVAKKIKT	4.0	8.0	unscreened	-	3713_1:158812191-158812191 G>A_DMPSLKNLVNNLQKEKSKVAKKIKT
10:52601629-52601629 C>T	0.0	3713	MELANOMA	-	-	ID=COSM3438625,COSM3438624,COSM3438626;OCCURENCE=1(urinary_tract)	2	A1CF	ENST00000373995,p.E128K|ENST00000395489,p.E113K|ENST00000414883,p.E120K|uc001jjh.3,p.E128K|NM_001198820,p.E128K|ENST00000373993,p.E120K|uc001jjj.3,p.E120K|NM_014576,p.E120K|NM_138932,p.E120K|uc010qho.2,p.E128K|uc010qhn.2,p.E128K|NM_138933,p.E128K|NM_001198818,p.E120K|uc009xov.3,p.E120K|ENST00000395495,p.E120K|ENST00000374001,p.E120K|ENST00000282641,p.E120K|NM_001198819,p.E128K|ENST00000373997,p.E120K|uc001jji.3,p.E120K	protein_coding, processed_transcript	uc010qho.2	nonsynonymous SNV	exon7	c.G382A	p.E128K	EAKNAIKQLNNYEIRNGRLLGVCAS	EAKNAIKQLNNYKIRNGRLLGVCAS	1.0	6.0	unscreened	-	3713_10:52601629-52601629 C>T_EAKNAIKQLNNYKIRNGRLLGVCAS
8:3045433-3045433 C>T	0.0	3713	MELANOMA	-	-	-	-	CSMD1	ENST00000539096,p.D1860N|ENST00000400186,p.D1861N|uc011kwj.2,p.D1253N|ENST00000537824,p.D1860N|uc022aqr.1,p.D1860N|ENST00000542608,p.D1860N|ENST00000602723,p.D1861N|NM_033225,p.D1860N|uc003wqe.3,p.D1017N|ENST00000602557,p.D1861N|ENST00000520002,p.D1861N	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon36	c.G5578A	p.D1860N	ATEQNWDSLEIHDGGDVTAPRLGSF	ATEQNWDSLEIHNGGDVTAPRLGSF	1.0	7.0	unscreened	-	3713_8:3045433-3045433 C>T_ATEQNWDSLEIHNGGDVTAPRLGSF
16:56926018-56926018 G>A	0.0	3713	MELANOMA	-	-	-	-	SLC12A3	ENST00000563236,p.E798K|NM_001126108,p.E798K|ENST00000262502,p.E797K|uc010ccm.3,p.E798K	retained_intron, protein_coding, processed_transcript	uc010ccm.3	nonsynonymous SNV	exon20	c.G2392A	p.E798K	MQAHINPVFDPAEDGKEASARVDPK	MQAHINPVFDPAKDGKEASARVDPK	1.0	3.0	unscreened	-	3713_16:56926018-56926018 G>A_MQAHINPVFDPAKDGKEASARVDPK
6:168709650-168709650 C>T	0.0	3713	MELANOMA	-	-	-	-	DACT2	NM_214462,p.D263N|uc003qwq.3,p.D263N|NM_001286350,p.D93N|ENST00000366795,p.D263N	protein_coding	uc003qwq.3	nonsynonymous SNV	exon4	c.G787A	p.D263N	IPLHVPDPKYRQDLVSQGGREVYPY	IPLHVPDPKYRQNLVSQGGREVYPY	1.0	4.0	unscreened	-	3713_6:168709650-168709650 C>T_IPLHVPDPKYRQNLVSQGGREVYPY
2:179466157-179466157 C>T	0.0	3713	MELANOMA	-	-	-	-	TTN	ENST00000589042,p.G18523R|ENST00000591111,p.G16882R|uc021vsz.2,p.G9650R|NM_001256850,p.G16882R|uc031rqc.1,p.G18523R|NM_001267550,p.G18523R|uc021vta.2,p.G9583R|NM_133378,p.G15955R|ENST00000460472,p.G9458R|uc021vsy.2,p.G15955R|ENST00000359218,p.G9583R|ENST00000342992,p.G15955R|uc031rqd.1,p.G16882R|NM_133437,p.G9650R|uc021vtb.2,p.G9458R|NM_133432,p.G9583R|NM_003319,p.G9458R|ENST00000342175,p.G9650R	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon237	c.G50644A	p.G16882R	IKGYVIEKRTIDGKAWTKVNPDCGS	IKGYVIEKRTIDRKAWTKVNPDCGS	1.0	4.0	unscreened	-	3713_2:179466157-179466157 C>T_IKGYVIEKRTIDRKAWTKVNPDCGS
3:57314448-57314448 C>T	0.0	3713	MELANOMA	-	-	-	-	ASB14	NM_001142733,p.A257T|uc021wzs.1,p.A257T|ENST00000487349,p.A257T	retained_intron, protein_coding	uc021wzs.1	nonsynonymous SNV	exon6	c.G769A	p.A257T	QASDSSSILLEAASGGNPDAVALLL	QASDSSSILLEATSGGNPDAVALLL	1.0	7.0	unscreened	-	3713_3:57314448-57314448 C>T_QASDSSSILLEATSGGNPDAVALLL
3:57314448-57314448 C>T	0.0	3713	MELANOMA	-	-	-	-	ASB14	ENST00000389601,p.A257T	retained_intron, protein_coding	ENST00000389601	nonsynonymous SNV	exon8	c.G769A	p.A257T	LASDSSSILLEAASGGNPDAVALLL	LASDSSSILLEATSGGNPDAVALLL	1.0	7.0	unscreened	-	3713_3:57314448-57314448 C>T_LASDSSSILLEATSGGNPDAVALLL
2:227979411-227979411 C>T	0.0	3713	MELANOMA	-	-	-	-	COL4A4	ENST00000396625,p.G164D|NM_000092,p.G164D|uc021vxs.1,p.G164D|ENST00000329662,p.G164D|uc021vxr.1,p.G164D	protein_coding	uc021vxs.1	nonsynonymous SNV	exon8	c.G491A	p.G164D	GGRGALGPGGPLGHPGEKGEKGNSV	GGRGALGPGGPLDHPGEKGEKGNSV	2.0	3.0	unscreened	-	3713_2:227979411-227979411 C>T_GGRGALGPGGPLDHPGEKGEKGNSV
5:168112868-168112868 C>T	1.0	3713	MELANOMA	0.0005	-	ID=COSM107541;OCCURENCE=1(skin)	-	SLIT3	ENST00000404867,p.E1127K|NM_001271946,p.E1134K|ENST00000332966,p.E1134K|ENST00000519560,p.E1127K|uc010jjg.4,p.E1134K|NM_003062,p.E1127K|uc003mab.4,p.E1127K	retained_intron, protein_coding, processed_transcript	uc010jjg.4	nonsynonymous SNV	exon31	c.G3400A	p.E1134K	MVLLQTSPCDQYECQNGAQCIVVQQ	MVLLQTSPCDQYKCQNGAQCIVVQQ	1.0	8.0	-	-	3713_5:168112868-168112868 C>T_MVLLQTSPCDQYKCQNGAQCIVVQQ
10:55570420-55570420 C>T	0.0	3713	MELANOMA	-	-	-	-	PCDH15	uc010qht.2,p.E1465K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qht.2	nonsynonymous SNV	exon34	c.G4393A	p.E1465K	HLYEELGDSSMYEMPQYGSRRRLLP	HLYEELGDSSMYKMPQYGSRRRLLP	1.0	5.0	unscreened	-	3713_10:55570420-55570420 C>T_HLYEELGDSSMYKMPQYGSRRRLLP
20:43851697-43851697 A>G	0.0	3713	MELANOMA	-	-	-	-	SEMG2	uc002xnk.3,p.E475G|NM_003008,p.E475G|uc010ggz.3,p.E475G|ENST00000372769,p.E475G	protein_coding	uc010ggz.3	nonsynonymous SNV	exon2	c.A1424G	p.E475G	ENKMSYQSSSTEERRLNYGGKSTQK	ENKMSYQSSSTEGRRLNYGGKSTQK	1.0	5.0	unscreened	-	3713_20:43851697-43851697 A>G_ENKMSYQSSSTEGRRLNYGGKSTQK
1:184787939-184787939 C>T	0.0	3713	MELANOMA	-	-	-	-	FAM129A	uc009wyh.2,p.E164K|ENST00000367511,p.E336K|uc001grb.1,p.E99K|uc001gra.4,p.E336K|uc009wyi.2,p.E134K|NM_052966,p.E336K	protein_coding, processed_transcript	uc009wyi.2	nonsynonymous SNV	exon6	c.G400A	p.E134K	IGKIKAMVAQPAEKSCLESVQPFLA	IGKIKAMVAQPAKKSCLESVQPFLA	4.0	4.0	unscreened	-	3713_1:184787939-184787939 C>T_IGKIKAMVAQPAKKSCLESVQPFLA
11:30974067-30974067 A>C	0.0	3713	MELANOMA	-	-	-	-	DCDC5	uc001msu.2,p.H499Q|uc009yjk.1,p.H328Q|ENST00000597505,p.H880Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009yjk.1	nonsynonymous SNV	exon9	c.T984G	p.H328Q	KHEGTSKPGQWKHSRVENPLWNKLT	KHEGTSKPGQWKQSRVENPLWNKLT	1.0	5.0	unscreened	-	3713_11:30974067-30974067 A>C_KHEGTSKPGQWKQSRVENPLWNKLT
2:178936704-178936704 C>T	0.0	3713	MELANOMA	-	-	-	-	PDE11A	ENST00000286063,p.R154Q|uc002ulq.3,p.R154Q|NM_016953,p.R154Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ulq.3	nonsynonymous SNV	exon1	c.G461A	p.R154Q	TSRAQEPLSSVRRRALLRKASSLPP	TSRAQEPLSSVRQRALLRKASSLPP	1.0	6.0	unscreened	-	3713_2:178936704-178936704 C>T_TSRAQEPLSSVRQRALLRKASSLPP
1:233482214-233482214 G>A	0.0	3713	MELANOMA	-	-	-	-	KIAA1804	uc001hvs.1,p.D278N|ENST00000366624,p.D278N|ENST00000366623,p.D278N|uc001hvt.4,p.D278N|NM_032435,p.D278N	protein_coding	uc001hvt.4	nonsynonymous SNV	exon2	c.G832A	p.D278N	SSNILLLEKIEHDDICNKTLKITDF	SSNILLLEKIEHNDICNKTLKITDF	1.0	6.0	unscreened	-	3713_1:233482214-233482214 G>A_SSNILLLEKIEHNDICNKTLKITDF
10:61834413-61834413 C>T	0.0	3713	MELANOMA	-	-	-	-	ANK3	ENST00000280772,p.E2076K|NM_020987,p.E2076K|uc001jky.3,p.E2076K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jky.3	nonsynonymous SNV	exon37	c.G6226A	p.E2076K	QKRVLKPAIALQEHKLKMPPASMRT	QKRVLKPAIALQKHKLKMPPASMRT	4.0	6.0	unscreened	-	3713_10:61834413-61834413 C>T_QKRVLKPAIALQKHKLKMPPASMRT
10:133946978-133946978 G>A	0.0	3713	MELANOMA	-	-	-	-	JAKMIP3	uc001lkx.4,p.E266K|ENST00000298622,p.E266K|NM_001105521,p.E266K	protein_coding, processed_transcript	uc001lkx.4	nonsynonymous SNV	exon3	c.G796A	p.E266K	READRHPGSPRRELPHAAGAGDASD	READRHPGSPRRKLPHAAGAGDASD	1.0	4.0	unscreened	-	3713_10:133946978-133946978 G>A_READRHPGSPRRKLPHAAGAGDASD
10:55570420-55570420 C>T	0.0	3713	MELANOMA	-	-	-	-	PCDH15	uc021pqx.1,p.M1481I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqx.1	nonsynonymous SNV	exon34	c.G4443A	p.M1481I	ARNMDKIITVMSMGMKCLNMGVAVD	ARNMDKIITVMSIGMKCLNMGVAVD	1.0	5.0	unscreened	-	3713_10:55570420-55570420 C>T_ARNMDKIITVMSIGMKCLNMGVAVD
3:190573352-190573352 C>T	0.0	3713	MELANOMA	-	-	-	-	GMNC	uc011bsl.1,p.R246K|NM_001146686,p.R246K|ENST00000442080,p.R246K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bsl.1	nonsynonymous SNV	exon5	c.G737A	p.R246K	KNIPREDMPIDYRGDRTTPLHSTAT	KNIPREDMPIDYKGDRTTPLHSTAT	1.0	7.0	unscreened	-	3713_3:190573352-190573352 C>T_KNIPREDMPIDYKGDRTTPLHSTAT
6:168442753-168442753 C>T	0.0	3713	MELANOMA	-	-	-	-	KIF25	ENST00000351261,p.P251S|NM_030615,p.P251S|uc003qwk.1,p.P251S|ENST00000443060,p.P251S|uc003qwl.1,p.P251S|ENST00000354419,p.P251S|NM_005355,p.P251S	retained_intron, protein_coding, processed_transcript	uc003qwl.1	nonsynonymous SNV	exon7	c.C751T	p.P251S	RASQGALAPQLVPGNPAGHAEQVQA	RASQGALAPQLVSGNPAGHAEQVQA	1.0	5.0	unscreened	-	3713_6:168442753-168442753 C>T_RASQGALAPQLVSGNPAGHAEQVQA
16:20357467-20357467 G>A	0.0	3713	MELANOMA	-	-	-	-	UMOD	NM_001008389,p.P388L|ENST00000396138,p.P437L|ENST00000302509,p.P388L|ENST00000570689,p.P388L|ENST00000396142,p.P388L|uc002dhb.3,p.P421L|ENST00000396134,p.P421L|NM_001278614,p.P421L|NM_003361,p.P388L|ENST00000424589,p.P421L|uc002dha.3,p.P388L|uc002dgz.3,p.P388L	protein_coding, processed_transcript	uc002dhb.3	nonsynonymous SNV	exon6	c.C1262T	p.P421L	DWVSVVTPARDGPCGTVLTRNETHA	DWVSVVTPARDGLCGTVLTRNETHA	1.0	5.0	unscreened	-	3713_16:20357467-20357467 G>A_DWVSVVTPARDGLCGTVLTRNETHA
1:167097262-167097262 C>T	0.0	3713	MELANOMA	-	-	-	-	DUSP27	ENST00000443333,p.S965L|ENST00000361200,p.S965L|uc001geb.1,p.S965L|ENST00000271385,p.S965L|NM_001080426,p.S965L	protein_coding, processed_transcript	uc001geb.1	nonsynonymous SNV	exon5	c.C2894T	p.S965L	DWSGSSRGKYTRSSLLRETESKSSS	DWSGSSRGKYTRLSLLRETESKSSS	1.0	4.0	unscreened	-	3713_1:167097262-167097262 C>T_DWSGSSRGKYTRLSLLRETESKSSS
11:6977253-6977253 G>A	0.0	3713	MELANOMA	-	-	-	-	ZNF215	ENST00000278319,p.G349S|uc010rax.2,p.G111S|uc010raw.3,p.G123S|ENST00000414517,p.G349S|uc001mey.3,p.G349S|NM_013250,p.G349S	protein_coding, processed_transcript	uc010rax.2	nonsynonymous SNV	exon5	c.G331A	p.G111S	FKTYFKFNLDSVGKQHSEYEYGNDL	FKTYFKFNLDSVSKQHSEYEYGNDL	1.0	4.0	unscreened	-	3713_11:6977253-6977253 G>A_FKTYFKFNLDSVSKQHSEYEYGNDL
14:79454385-79454385 G>A	0.0	3713	MELANOMA	-	-	-	-	NRXN3	uc010asv.1,p.E807K|ENST00000335750,p.E682K|ENST00000554719,p.E682K|uc001xun.4,p.E682K|ENST00000554738,p.E1044K|NM_004796,p.E682K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010asv.1	nonsynonymous SNV	exon11	c.G2419A	p.E807K	ERGCEGPSTTCQEDSCANQGVCMQQ	ERGCEGPSTTCQKDSCANQGVCMQQ	1.0	3.0	unscreened	-	3713_14:79454385-79454385 G>A_ERGCEGPSTTCQKDSCANQGVCMQQ
12:57871007-57871007 C>T	0.0	3713	MELANOMA	-	-	-	-	ARHGAP9	ENST00000430041,p.D84N|ENST00000356411,p.D268N|ENST00000552066,p.D84N|ENST00000393797,p.D339N|ENST00000551452,p.D121N|uc001soe.1,p.D347N|NM_032496,p.D268N|NM_001080156,p.D84N|ENST00000548139,p.D84N|ENST00000552604,p.D84N|uc001sod.3,p.D339N|uc001snz.3,p.D84N|ENST00000393791,p.D268N|ENST00000550288,p.D347N|uc010sro.1,p.D268N|NM_001080157,p.D268N|uc001soc.3,p.D268N|uc001sob.3,p.D268N|ENST00000424809,p.D268N	retained_intron, protein_coding, processed_transcript	uc010sro.1	nonsynonymous SNV	exon5	c.G802A	p.D268N	SMEGTQTLKRNNDVLQPQAKGFRSD	SMEGTQTLKRNNNVLQPQAKGFRSD	5.0	4.0	unscreened	-	3713_12:57871007-57871007 C>T_SMEGTQTLKRNNNVLQPQAKGFRSD
12:58019491-58019491 G>A	0.0	3713	MELANOMA	-	-	-	-	SLC26A10	ENST00000320442,p.R552K|uc001spe.3,p.R552K|NM_133489,p.R552K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001spe.3	nonsynonymous SNV	exon14	c.G1655A	p.R552K	YALGSLLRGSSTRSGSQEALGCGK	YALGSLLRGSSTKSGSQEALGCGK	1.0	3.0	unscreened	-	3713_12:58019491-58019491 G>A_YALGSLLRGSSTKSGSQEALGCGK
16:56926018-56926018 G>A	0.0	3713	MELANOMA	-	-	-	-	SLC12A3	NM_001126107,p.E797K|uc010ccn.3,p.E797K|uc002ekd.4,p.E798K|ENST00000438926,p.E798K|ENST00000566786,p.E797K|NM_000339,p.E798K	retained_intron, protein_coding, processed_transcript	uc010ccn.3	nonsynonymous SNV	exon20	c.G2389A	p.E797K	MQAHINPVFDPAEDGKEASARGARP	MQAHINPVFDPAKDGKEASARGARP	1.0	3.0	unscreened	-	3713_16:56926018-56926018 G>A_MQAHINPVFDPAKDGKEASARGARP
16:50667300-50667300 G>A	0.0	3713	MELANOMA	-	-	-	-	NKD1	uc002egg.2,p.G341R|ENST00000268459,p.G341R|NM_033119,p.G341R	retained_intron, protein_coding, processed_transcript	uc002egg.2	nonsynonymous SNV	exon10	c.G1021A	p.G341R	SELQQRLRGTQDGSKHFVRSPKAQG	SELQQRLRGTQDRSKHFVRSPKAQG	1.0	7.0	unscreened	-	3713_16:50667300-50667300 G>A_SELQQRLRGTQDRSKHFVRSPKAQG
2:43937368-43937368 G>A	0.0	3713	MELANOMA	-	-	-	-	PLEKHH2	NM_172069,p.E705K|uc010yny.2,p.E705K|ENST00000282406,p.E705K|uc002rte.3,p.E705K|uc002rtf.3,p.E704K	retained_intron, protein_coding, nonsense_mediated_decay	uc010yny.2	nonsynonymous SNV	exon13	c.G2113A	p.E705K	SSSSDNGKNEPLEKSGYLLKMSGKV	SSSSDNGKNEPLKKSGYLLKMSGKV	4.0	4.0	unscreened	-	3713_2:43937368-43937368 G>A_SSSSDNGKNEPLKKSGYLLKMSGKV
2:138169397-138169397 G>A	0.0	3713	MELANOMA	-	-	-	-	THSD7B	uc002tvb.3,p.D831N|ENST00000272643,p.D972N|ENST00000413152,p.D941N|ENST00000409968,p.D972N|uc002tva.1,p.D941N	retained_intron, protein_coding, processed_transcript	uc002tvb.3	nonsynonymous SNV	exon12	c.G2491A	p.D831N	GEGLRFRAVACSDKNGRPVDPSFCS	GEGLRFRAVACSNKNGRPVDPSFCS	1.0	4.0	unscreened	-	3713_2:138169397-138169397 G>A_GEGLRFRAVACSNKNGRPVDPSFCS
9:135545425-135545425 C>T	1.0	3713	MELANOMA	-	-	-	-	DDX31	ENST00000372153,p.G71E|NM_022779,p.G71E|NM_138620,p.G71E|ENST00000372159,p.G71E|ENST00000310532,p.G71E|uc010mzu.1,p.G71E|uc004cbq.1,p.G71E|uc004cbr.1,p.G71E|uc004cbs.2,p.G71E	protein_coding, processed_transcript	uc010mzu.1	nonsynonymous SNV	exon1	c.G212A	p.G71E	GTSPYSWSRSGPGRGGGAGSSRVPR	GTSPYSWSRSGPERGGGAGSSRVPR	4.0	3.0	unscreened	-	3713_9:135545425-135545425 C>T_GTSPYSWSRSGPERGGGAGSSRVPR
4:5687162-5687162 C>T	0.0	3713	MELANOMA	-	-	-	-	EVC2	ENST00000310917,p.G171R|NM_001166136,p.G171R|NM_147127,p.G251R|ENST00000475313,p.G171R|ENST00000509670,p.G171R|uc003gij.3,p.G251R|uc003gik.3,p.G171R|ENST00000344408,p.G251R|ENST00000344938,p.G251R	protein_coding, nonsense_mediated_decay	uc003gik.3	nonsynonymous SNV	exon6	c.G511A	p.G171R	AFAVSYAATLQAGDLGNGESLKLPA	AFAVSYAATLQARDLGNGESLKLPA	1.0	6.0	unscreened	-	3713_4:5687162-5687162 C>T_AFAVSYAATLQARDLGNGESLKLPA
1:175129925-175129933 CTTCTTCTT>-	0.0	3713	MELANOMA	-	-	-	-	KIAA0040	uc001gko.3,p.73_75del|ENST00000444639,p.73_75del|NM_001162894,p.73_75del|uc009wws.2,p.73_75del|uc001gkn.3,p.73_75del|NM_014656,p.73_75del|NM_001162895,p.73_75del|ENST00000423313,p.73_75del|uc010pmy.1,p.73_75del|NM_001162893,p.73_75del|ENST00000545251,p.73_75del	protein_coding, processed_transcript, lincRNA	uc010pmy.1	nonframeshift deletion	exon5	c.217_225del	p.73_75del	QPEKNKKKKKKKKKKDEEDLWISAQ	QPEKNKKKKKKKDEEDLWISAQPKL	1.0	6.0	unscreened	-	3713_1:175129925-175129933 CTTCTTCTT>-_QPEKNKKKKKKKDEEDLWISAQPKL
6:127837020-127837020 C>T	0.0	3713	MELANOMA	-	-	-	-	SOGA3	ENST00000368268,p.G247E|ENST00000556132,p.G247E|uc003qbd.3,p.G247E|ENST00000481848,p.G247E|ENST00000465909,p.G247E|ENST00000525778,p.G247E|NM_001012279,p.G247E	processed_transcript,protein_coding, nonsense_mediated_decay	uc003qbd.3	nonsynonymous SNV	exon2	c.G740A	p.G247E	GSGVAGGGSGGGGSYWKEGCLQSEL	GSGVAGGGSGGGESYWKEGCLQSEL	1.0	6.0	unscreened	-	3713_6:127837020-127837020 C>T_GSGVAGGGSGGGESYWKEGCLQSEL
10:50029141-50029141 G>A	0.0	3713	MELANOMA	-	-	-	-	WDFY4	ENST00000325239,p.R1915Q|NM_020945,p.R1915Q|uc001jha.4,p.R1915Q|uc001jhb.1,p.R443Q	protein_coding, processed_transcript	uc001jhb.1	nonsynonymous SNV	exon11	c.G1328A	p.R443Q	EASPDHATSQQKRDFQSEVLLSAME	EASPDHATSQQKQDFQSEVLLSAME	3.0	5.0	unscreened	-	3713_10:50029141-50029141 G>A_EASPDHATSQQKQDFQSEVLLSAME
1:196876134-196876134 G>A	0.0	3713	MELANOMA	-	-	-	-	CFHR4	NM_001201550,p.E195K|NM_001201551,p.E194K|uc009wyy.3,p.E194K|uc001gtp.3,p.E195K|ENST00000367416,p.E194K	protein_coding	uc009wyy.3	nonsynonymous SNV	exon4	c.G580A	p.E194K	SYGNTTDSIVCGEDGWSHLPTCYNS	SYGNTTDSIVCGKDGWSHLPTCYNS	1.0	6.0	unscreened	-	3713_1:196876134-196876134 G>A_SYGNTTDSIVCGKDGWSHLPTCYNS
10:125798134-125798134 C>T	0.0	3713	MELANOMA	-	-	-	-	CHST15	ENST00000435907,p.D363N|uc010que.3,p.D363N|uc001lhm.4,p.D363N|uc001lho.4,p.D363N|uc001lhn.4,p.D363N|ENST00000421115,p.D363N|ENST00000346248,p.D363N|NM_001270765,p.D363N|NM_015892,p.D363N|NM_014863,p.D363N|NM_001270764,p.D363N	protein_coding, processed_transcript	uc010que.3	nonsynonymous SNV	exon5	c.G1087A	p.D363N	TMWDNNAWTFFYDNSTDGEPPFLTQ	TMWDNNAWTFFYNNSTDGEPPFLTQ	6.0	6.0	unscreened	-	3713_10:125798134-125798134 C>T_TMWDNNAWTFFYNNSTDGEPPFLTQ
12:1749063-1749063 G>A	0.0	3713	MELANOMA	-	-	-	-	WNT5B	NM_030775,p.R181Q|NM_032642,p.R181Q|ENST00000543071,p.R181Q|uc009zdq.3,p.R181Q|uc001qjk.3,p.R181Q|uc001qjj.3,p.R181Q|ENST00000397196,p.R181Q|ENST00000310594,p.R181Q|uc001qjl.3,p.R181Q|ENST00000537031,p.R181Q	protein_coding, processed_transcript	uc009zdq.3	nonsynonymous SNV	exon4	c.G542A	p.R181Q	YRFAKEFVDAREREKNFAKGSEEQG	YRFAKEFVDAREQEKNFAKGSEEQG	2.0	7.0	-	-	3713_12:1749063-1749063 G>A_YRFAKEFVDAREQEKNFAKGSEEQG
12:66935696-66935696 C>T	0.0	3713	MELANOMA	-	-	-	-	GRIP1	ENST00000545666,p.M30I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000545666	nonsynonymous SNV	exon2	c.G90A	p.M30I	KEEFKGSTVVELMKKEGTTLGLTVS	KEEFKGSTVVELIKKEGTTLGLTVS	1.0	5.0	unscreened	-	3713_12:66935696-66935696 C>T_KEEFKGSTVVELIKKEGTTLGLTVS
12:66935696-66935696 C>T	0.0	3713	MELANOMA	-	-	-	-	GRIP1	NM_021150,p.M57I|uc001stk.3,p.M57I|uc001stm.3,p.M57I|ENST00000538211,p.M57I|ENST00000541947,p.M83I|ENST00000286445,p.M57I|ENST00000398016,p.M57I|ENST00000359742,p.M57I|NM_001178074,p.M57I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001stm.3	nonsynonymous SNV	exon3	c.G171A	p.M57I	PEEFKGSTVVELMKKEGTTLGLTVS	PEEFKGSTVVELIKKEGTTLGLTVS	1.0	5.0	unscreened	-	3713_12:66935696-66935696 C>T_PEEFKGSTVVELIKKEGTTLGLTVS
6:42893175-42893175 G>A	1.0	3713	MELANOMA	-	-	-	-	PTCRA	ENST00000441198,p.E176K|uc010jxy.3,p.E176K|ENST00000446507,p.E94K|NM_138296,p.E201K|uc021yzp.1,p.E216K|uc003osx.3,p.E201K|NM_001243170,p.E94K|NM_001243168,p.E216K|NM_001243169,p.E176K|ENST00000304672,p.E201K|uc010jxz.3,p.E94K	protein_coding	uc021yzp.1	nonsynonymous SNV	exon4	c.G646A	p.E216K	RALGSHRLHPATETGGREATSSPRP	RALGSHRLHPATKTGGREATSSPRP	6.0	6.0	unscreened	-	3713_6:42893175-42893175 G>A_RALGSHRLHPATKTGGREATSSPRP
5:41051159-41051159 C>T	0.0	3713	MELANOMA	-	-	ID=COSM3828083;OCCURENCE=1(breast)	-	MROH2B	ENST00000399564,p.E422K|uc003jmj.4,p.E422K|NM_173489,p.E422K	retained_intron, protein_coding	uc003jmj.4	nonsynonymous SNV	exon13	c.G1264A	p.E422K	LEKPVKTNFHENEKEEESVRETSLE	LEKPVKTNFHENKKEEESVRETSLE	1.0	3.0	unscreened	-	3713_5:41051159-41051159 C>T_LEKPVKTNFHENKKEEESVRETSLE
3:58622140-58622140 C>T	0.0	3713	MELANOMA	-	-	-	-	FAM3D	uc003dkq.3,p.D156N|NM_138805,p.D156N|ENST00000358781,p.D156N	protein_coding, nonsense_mediated_decay	uc003dkq.3	nonsynonymous SNV	exon9	c.G466A	p.D156N	VASYDDPGTKMNDESRKLFSDLGSS	VASYDDPGTKMNNESRKLFSDLGSS	1.0	3.0	unscreened	-	3713_3:58622140-58622140 C>T_VASYDDPGTKMNNESRKLFSDLGSS
2:100938038-100938038 C>T	0.0	3713	MELANOMA	-	-	-	-	LONRF2	ENST00000393437,p.R173Q|uc002tal.4,p.R173Q|NM_198461,p.R173Q	protein_coding	uc002tal.4	nonsynonymous SNV	exon1	c.G518A	p.R173Q	TVCKRCVEPGPARPQVRRVNVVLSG	TVCKRCVEPGPAQPQVRRVNVVLSG	1.0	4.0	unscreened	-	3713_2:100938038-100938038 C>T_TVCKRCVEPGPAQPQVRRVNVVLSG
3:19930107-19930107 C>T	0.0	3713	MELANOMA	-	-	-	-	EFHB	uc003cbl.4,p.E588K|ENST00000344838,p.E458K|NM_144715,p.E588K|ENST00000295824,p.E588K|uc003cbm.3,p.E458K	protein_coding, processed_transcript	uc003cbm.3	nonsynonymous SNV	exon12	c.G1372A	p.E458K	KGDGMIDKDELQEACDQANLSLDDK	KGDGMIDKDELQKACDQANLSLDDK	2.0	7.0	unscreened	-	3713_3:19930107-19930107 C>T_KGDGMIDKDELQKACDQANLSLDDK
6:80196897-80196897 G>A	1.0	3713	MELANOMA	-	-	-	-	LCA5	NM_001122769,p.L640F|uc003piy.3,p.L640F|ENST00000369846,p.L640F|uc003pix.3,p.L640F|ENST00000392959,p.L640F|NM_181714,p.L640F	protein_coding, processed_transcript	uc003piy.3	nonsynonymous SNV	exon9	c.C1918T	p.L640F	ASSKGDIDPLNFLPGNKGSRDQEHD	ASSKGDIDPLNFFPGNKGSRDQEHD	3.0	5.0	unscreened	-	3713_6:80196897-80196897 G>A_ASSKGDIDPLNFFPGNKGSRDQEHD
11:5603094-5603094 C>T	0.0	3713	MELANOMA	-	-	-	-	OR52B6	uc010qzi.2,p.L330F|NM_001005162,p.L330F|ENST00000345043,p.L330F	protein_coding	uc010qzi.2	nonsynonymous SNV	exon1	c.C988T	p.L330F	PILEGAKQMFSNLAKGSK	PILEGAKQMFSNFAKGSK	1.0	7.0	unscreened	-	3713_11:5603094-5603094 C>T_PILEGAKQMFSNFAKGSK
1:86904704-86904704 G>A	0.0	3713	MELANOMA	-	-	-	-	CLCA2	uc001dlr.4,p.R373Q|NM_006536,p.R373Q|ENST00000370565,p.R373Q	protein_coding, processed_transcript	uc001dlr.4	nonsynonymous SNV	exon7	c.G1118A	p.R373Q	RAQLHQINSNDDRKLLVSYLPTTVS	RAQLHQINSNDDQKLLVSYLPTTVS	1.0	7.0	unscreened	-	3713_1:86904704-86904704 G>A_RAQLHQINSNDDQKLLVSYLPTTVS
1:27278057-27278057 G>A	0.0	3713	MELANOMA	-	-	-	-	KDF1	uc001bni.2,p.T272I|NM_152365,p.T272I|ENST00000320567,p.T272I	protein_coding	uc001bni.2	nonsynonymous SNV	exon2	c.C815T	p.T272I	AKCTSDTVFLEKTSKISDLISSITQ	AKCTSDTVFLEKISKISDLISSITQ	1.0	4.0	unscreened	-	3713_1:27278057-27278057 G>A_AKCTSDTVFLEKISKISDLISSITQ
16:66945091-66945091 C>T	0.0	3713	MELANOMA	-	-	-	-	CDH16	uc002eql.3,p.D640N|uc002eqm.3,p.D543N|ENST00000568632,p.D543N|ENST00000299752,p.D640N|NM_001204746,p.D543N|ENST00000570262,p.D560N|NM_004062,p.D640N	protein_coding, nonsense_mediated_decay	uc002eqm.3	nonsynonymous SNV	exon13	c.G1627A	p.D543N	PGDTYTVLVEAQDTDEPRLSASAPL	PGDTYTVLVEAQNTDEPRLSASAPL	1.0	4.0	unscreened	-	3713_16:66945091-66945091 C>T_PGDTYTVLVEAQNTDEPRLSASAPL
6:84270588-84270588 C>T	0.0	3713	MELANOMA	-	-	-	-	SNAP91	uc003pka.3,p.G839R|uc011dzd.3,p.G715R|uc011dze.2,p.G839R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dze.2	nonsynonymous SNV	exon26	c.G2515A	p.G839R	VAGAPSVGQPGAGFGMPPAGTGMPM	VAGAPSVGQPGARFGMPPAGTGMPM	1.0	4.0	unscreened	-	3713_6:84270588-84270588 C>T_VAGAPSVGQPGARFGMPPAGTGMPM
X:47435550-47435550 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1121852;OCCURENCE=1(endometrium)	-	SYN1	uc004did.3,p.G380R|ENST00000295987,p.G380R|uc004die.3,p.G380R|NM_133499,p.G380R|ENST00000340666,p.G380R|NM_006950,p.G380R	protein_coding	uc004die.3	nonsynonymous SNV	exon9	c.G1138A	p.G380R	DICAVEALHGKDGRDHIIEVVGSSM	DICAVEALHGKDRRDHIIEVVGSSM	1.0	4.0	unscreened	-	3713_X:47435550-47435550 C>T_DICAVEALHGKDRRDHIIEVVGSSM
14:88651911-88651911 C>T	0.0	3713	MELANOMA	-	-	-	-	KCNK10	ENST00000319231,p.E534K|NM_138317,p.E534K|ENST00000340700,p.E529K|uc001xwn.3,p.E534K|NM_138318,p.E534K|NM_021161,p.E529K|ENST00000312350,p.E534K|uc001xwm.3,p.E534K|uc001xwo.3,p.E529K	protein_coding	uc001xwo.3	nonsynonymous SNV	exon7	c.G1585A	p.E529K	GMIPTDTKDREPENNSLLEDRN	GMIPTDTKDREPKNNSLLEDRN	1.0	3.0	unscreened	-	3713_14:88651911-88651911 C>T_GMIPTDTKDREPKNNSLLEDRN
3:35763155-35763155 G>A	0.0	3713	MELANOMA	-	-	-	-	ARPP21	uc003cgf.3,p.E153K|NM_001267617,p.E298K|uc003cga.3,p.E298K|uc003cgb.3,p.E352K|ENST00000458225,p.E318K|NM_016300,p.E352K|ENST00000337271,p.E298K|NM_001267619,p.E318K|ENST00000417925,p.E318K|ENST00000187397,p.E352K|uc011axy.2,p.E318K|ENST00000444190,p.E298K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011axy.2	nonsynonymous SNV	exon12	c.G952A	p.E318K	RTSGSRQSSSENELKWSDHQRAWSS	RTSGSRQSSSENKLKWSDHQRAWSS	1.0	3.0	unscreened	-	3713_3:35763155-35763155 G>A_RTSGSRQSSSENKLKWSDHQRAWSS
X:139038869-139038869 G>A	0.0	3713	MELANOMA	-	-	-	-	CXorf66	NM_001013403,p.S91L|uc004fbb.3,p.S91L|ENST00000370540,p.S91L	protein_coding	uc004fbb.3	nonsynonymous SNV	exon3	c.C272T	p.S91L	AGMVKKKGIAAKSSKTSFSEAKTAS	AGMVKKKGIAAKLSKTSFSEAKTAS	1.0	7.0	unscreened	-	3713_X:139038869-139038869 G>A_AGMVKKKGIAAKLSKTSFSEAKTAS
12:52307009-52307009 C>T	0.0	3713	MELANOMA	-	-	-	-	ACVRL1	uc021qxz.1,p.P63L|uc001rzk.3,p.P63L|ENST00000551576,p.P63L|NM_001077401,p.P63L|uc001rzj.3,p.P63L|ENST00000388922,p.P63L|ENST00000547400,p.P77L|NM_000020,p.P63L|ENST00000550683,p.P77L	retained_intron, protein_coding, processed_transcript	uc021qxz.1	nonsynonymous SNV	exon4	c.C188T	p.P63L	CTVVLVREEGRHPQEHRGCGNLHRE	CTVVLVREEGRHLQEHRGCGNLHRE	4.0	4.0	unscreened	-	3713_12:52307009-52307009 C>T_CTVVLVREEGRHLQEHRGCGNLHRE
6:107954778-107954778 G>A	0.0	3713	MELANOMA	-	-	-	-	SOBP	NM_018013,p.E244K|uc003prx.3,p.E244K|ENST00000317357,p.E244K	retained_intron, protein_coding, processed_transcript	uc003prx.3	nonsynonymous SNV	exon6	c.G730A	p.E244K	RHTKEYLDFGDGERRLQFCSAKCLN	RHTKEYLDFGDGKRRLQFCSAKCLN	1.0	6.0	unscreened	-	3713_6:107954778-107954778 G>A_RHTKEYLDFGDGKRRLQFCSAKCLN
17:39471884-39471884 C>T	0.0	3713	MELANOMA	-	-	-	-	KRTAP17-1	ENST00000334202,p.D7N|NM_031964,p.D7N|uc002hwj.3,p.D7N	protein_coding	uc002hwj.3	nonsynonymous SNV	exon1	c.G19A	p.D7N	MGCCPGDCFTCCTQEQNCC	MGCCPGNCFTCCTQEQNCC	1.0	3.0	unscreened	-	3713_17:39471884-39471884 C>T_MGCCPGNCFTCCTQEQNCC
1:171083232-171083232 G>A	0.0	3713	MELANOMA	-	-	-	-	FMO3	ENST00000367755,p.E305K|NM_006894,p.E305K|ENST00000392085,p.E305K|uc001ghh.3,p.E305K|uc010pmc.2,p.E242K|ENST00000542847,p.E285K|uc001ghi.3,p.E305K|NM_001002294,p.E305K|ENST00000538429,p.E242K|uc010pmb.2,p.E285K	protein_coding, processed_transcript	uc010pmc.2	nonsynonymous SNV	exon6	c.G724A	p.E242K	LCGIVSVKPNVKEFTETSAIFEDGT	LCGIVSVKPNVKKFTETSAIFEDGT	2.0	5.0	unscreened	-	3713_1:171083232-171083232 G>A_LCGIVSVKPNVKKFTETSAIFEDGT
18:3814137-3814137 G>A	0.0	3713	MELANOMA	-	-	-	-	DLGAP1	uc002kmf.3,p.P365L|ENST00000400147,p.P63L|NM_004746,p.P365L|ENST00000515196,p.P365L|uc010wyx.2,p.P77L|NM_001242763,p.P77L|uc010wyy.2,p.P77L|ENST00000315677,p.P365L|uc010wyz.2,p.P365L|NM_001242765,p.P63L|ENST00000400155,p.P71L|uc002kmk.2,p.P365L|uc010dkn.3,p.P63L|ENST00000400150,p.P71L|NM_001003809,p.P63L|ENST00000534970,p.P77L|uc010wyw.2,p.P71L|ENST00000584874,p.P365L|NM_001242762,p.P77L|NM_001242761,p.P365L|ENST00000400149,p.P73L|ENST00000400145,p.P63L|NM_001242766,p.P63L|uc002kmg.3,p.P63L|uc002kme.2,p.P63L|ENST00000581699,p.P71L|NM_001242764,p.P71L|ENST00000581527,p.P365L|ENST00000539435,p.P63L	protein_coding, processed_transcript	uc010wyz.2	nonsynonymous SNV	exon5	c.C1094T	p.P365L	DEDSGDSDTSPKPSPKVAARRESYL	DEDSGDSDTSPKLSPKVAARRESYL	1.0	5.0	unscreened	-	3713_18:3814137-3814137 G>A_DEDSGDSDTSPKLSPKVAARRESYL
1:47504346-47504346 G>A	0.0	3713	MELANOMA	-	-	-	-	CYP4X1	uc001cqt.3,p.E264K|NM_178033,p.E264K|uc001cqs.3,p.E199K|ENST00000371901,p.E264K|ENST00000538609,p.E263K|uc001cqr.3,p.E263K	protein_coding, processed_transcript	uc001cqt.3	nonsynonymous SNV	exon7	c.G790A	p.E264K	RVLNQYTDTIIQERKKSLQAGVKQD	RVLNQYTDTIIQKRKKSLQAGVKQD	1.0	3.0	unscreened	-	3713_1:47504346-47504346 G>A_RVLNQYTDTIIQKRKKSLQAGVKQD
19:2876261-2876261 G>A	0.0	3713	MELANOMA	-	-	-	-	ZNF556	uc002lwp.1,p.E101K|NM_024967,p.E101K|ENST00000307635,p.E101K	protein_coding, nonsense_mediated_decay	uc002lwp.1	nonsynonymous SNV	exon3	c.G301A	p.E101K	EEHSVKDKHNTKERHLSRNPRVERP	EEHSVKDKHNTKKRHLSRNPRVERP	1.0	3.0	unscreened	-	3713_19:2876261-2876261 G>A_EEHSVKDKHNTKKRHLSRNPRVERP
1:33998716-33998716 C>T	0.0	3713	MELANOMA	-	-	-	-	CSMD2	NM_052896,p.G3225S|ENST00000373381,p.G3369S|uc001bxm.1,p.G3369S|uc001bxn.1,p.G3225S|ENST00000241312,p.G3225S|NM_001281956,p.G3369S	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxn.1	nonsynonymous SNV	exon63	c.G9673A	p.G3225S	LIYSCQEGFSLKGGSEHRTCKADGS	LIYSCQEGFSLKSGSEHRTCKADGS	1.0	3.0	unscreened	-	3713_1:33998716-33998716 C>T_LIYSCQEGFSLKSGSEHRTCKADGS
13:78133998-78133998 G>A	0.0	3713	MELANOMA	-	-	-	-	SCEL	NM_003843,p.R74K|ENST00000349847,p.R74K|NM_001160706,p.R74K|ENST00000471491,p.R74K|NM_144777,p.R74K|ENST00000377246,p.R74K|uc001vkj.3,p.R74K|uc010thx.2,p.R74K|uc001vki.3,p.R74K|ENST00000535157,p.R74K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010thx.2	nonsynonymous SNV	exon4	c.G221A	p.R74K	VLNRHNSHDALDRKVNERDVPKATI	VLNRHNSHDALDKKVNERDVPKATI	1.0	4.0	unscreened	-	3713_13:78133998-78133998 G>A_VLNRHNSHDALDKKVNERDVPKATI
2:95537526-95537526 G>A	0.0	3713	MELANOMA	-	-	-	-	TEKT4	NM_144705,p.E68K|ENST00000295201,p.E68K|uc002stw.1,p.E68K|ENST00000427593,p.E68K	retained_intron, protein_coding	uc002stw.1	nonsynonymous SNV	exon1	c.G202A	p.E68K	FADRDQSERQRHESQQLATETQALA	FADRDQSERQRHKSQQLATETQALA	1.0	7.0	unscreened	-	3713_2:95537526-95537526 G>A_FADRDQSERQRHKSQQLATETQALA
16:21209114-21209114 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1749471;OCCURENCE=2(urinary_tract)	-	ZP2	ENST00000574091,p.E681K|ENST00000219593,p.E690K|uc002dii.2,p.E690K|NM_001290104,p.E681K|uc010bwn.1,p.E720K|NM_003460,p.E690K|ENST00000574002,p.E690K	retained_intron, protein_coding	uc010bwn.1	nonsynonymous SNV	exon18	c.G2158A	p.E720K	KASGSSGEKSRSETGEEVGSRGAMD	KASGSSGEKSRSKTGEEVGSRGAMD	1.0	7.0	unscreened	-	3713_16:21209114-21209114 C>T_KASGSSGEKSRSKTGEEVGSRGAMD
7:45122013-45122013 C>T	0.0	3713	MELANOMA	-	-	-	-	NACAD	uc003tmt.3,p.E1256K|ENST00000490531,p.E1256K|NM_001146334,p.E1256K	retained_intron, protein_coding	uc003tmt.3	nonsynonymous SNV	exon2	c.G3766A	p.E1256K	EPPAPCLCQDPQEDSVEDEEPPGSL	EPPAPCLCQDPQKDSVEDEEPPGSL	2.0	4.0	unscreened	-	3713_7:45122013-45122013 C>T_EPPAPCLCQDPQKDSVEDEEPPGSL
10:28438982-28438982 C>T	0.0	3713	MELANOMA	-	-	-	-	MPP7	uc001iub.1,p.E55K|NM_173496,p.E55K|ENST00000375732,p.E55K|uc001iua.1,p.E55K|ENST00000337532,p.E55K|ENST00000496637,p.E55K|ENST00000375719,p.E55K|uc009xla.2,p.E55K|ENST00000540098,p.E55K	protein_coding, processed_transcript	uc009xla.2	nonsynonymous SNV	exon4	c.G163A	p.E55K	GEKSLHSLVKIHEKLHYYEKQSPVP	GEKSLHSLVKIHKKLHYYEKQSPVP	1.0	4.0	-	-	3713_10:28438982-28438982 C>T_GEKSLHSLVKIHKKLHYYEKQSPVP
22:45790614-45790614 C>T	0.0	3713	MELANOMA	-	-	-	-	SMC1B	uc003bge.1,p.D213N|ENST00000404354,p.D430N|NM_001291501,p.D430N|NM_148674,p.D430N|uc003bgc.3,p.D430N|ENST00000357450,p.D430N|uc003bgd.3,p.D430N	protein_coding	uc003bge.1	nonsynonymous SNV	exon6	c.G637A	p.D213N	QGNLKQIKEQIEDHKKRIEKLEEYT	QGNLKQIKEQIENHKKRIEKLEEYT	1.0	7.0	unscreened	-	3713_22:45790614-45790614 C>T_QGNLKQIKEQIENHKKRIEKLEEYT
2:1947092-1947092 G>A	0.0	3713	MELANOMA	-	-	-	-	MYT1L	ENST00000428368,p.P56L|uc002qxe.3,p.P56L|uc002qxd.3,p.P56L|ENST00000399161,p.P56L|NM_015025,p.P56L	retained_intron, protein_coding, processed_transcript	uc002qxe.3	nonsynonymous SNV	exon9	c.C167T	p.P56L	GKYARHRSVYGCPLAKKRKTQDKQP	GKYARHRSVYGCLLAKKRKTQDKQP	1.0	6.0	unscreened	-	3713_2:1947092-1947092 G>A_GKYARHRSVYGCLLAKKRKTQDKQP
6:28541321-28541321 G>A	0.0	3713	MELANOMA	-	-	-	-	ZBED9	uc003nlo.3,p.S782L|ENST00000452236,p.S782L|NM_052923,p.S782L	protein_coding, processed_transcript	uc003nlo.3	nonsynonymous SNV	exon4	c.C2345T	p.S782L	AMKPSKLKRHLYSKHKEISSQPKEF	AMKPSKLKRHLYLKHKEISSQPKEF	1.0	6.0	unscreened	-	3713_6:28541321-28541321 G>A_AMKPSKLKRHLYLKHKEISSQPKEF
1:207741198-207741198 C>T	0.0	3713	MELANOMA	-	-	-	-	CR1	uc009xcl.1,p.P428S|uc001hfy.3,p.P878S|uc001hfx.3,p.P1328S|ENST00000367053,p.P878S|NM_000573,p.P878S|uc021pij.1,p.P878S|uc009xck.1,p.P428S|ENST00000367049,p.P1328S|ENST00000400960,p.P878S|NM_000651,p.P1328S|ENST00000367051,p.P878S	retained_intron, protein_coding, processed_transcript	uc021pij.1	nonsynonymous SNV	exon17	c.C2632T	p.P878S	CEQIFCPSPPVIPNGRHTGKPLEVF	CEQIFCPSPPVISNGRHTGKPLEVF	3.0	5.0	unscreened	-	3713_1:207741198-207741198 C>T_CEQIFCPSPPVISNGRHTGKPLEVF
22:43634858-43634858 C>T	0.0	3713	MELANOMA	-	-	-	-	SCUBE1	uc003bdt.2,p.G277E|NM_173050,p.G277E|ENST00000360835,p.G277E	protein_coding, processed_transcript	uc003bdt.2	nonsynonymous SNV	exon7	c.G830A	p.G277E	CSCPVGFTLQPDGKTCKDINECLVN	CSCPVGFTLQPDEKTCKDINECLVN	1.0	7.0	unscreened	-	3713_22:43634858-43634858 C>T_CSCPVGFTLQPDEKTCKDINECLVN
16:6533503-6533503 G>A	0.0	3713	MELANOMA	-	-	-	-	RBFOX1	ENST00000535565,p.M1I|uc010uya.1,p.M1I|ENST00000552089,p.M1I	retained_intron, protein_coding, processed_transcript	uc010uya.1	nonsynonymous SNV	exon1	c.G3A	p.M1I	MKSWQLIAVVGDA	IKSWQLIAVVGDA	1.0	7.0	unscreened	-	3713_16:6533503-6533503 G>A_IKSWQLIAVVGDA
2:175431807-175431807 C>T	0.0	3713	MELANOMA	-	-	ID=COSM171261;OCCURENCE=1(large_intestine)	-	WIPF1	ENST00000392547,p.E483K|NM_003387,p.E483K|ENST00000392546,p.E483K|NM_001077269,p.E483K|uc002uiz.3,p.E483K|uc002uja.3,p.E483K|ENST00000359761,p.E483K|uc010fqt.1,p.E483K|ENST00000272746,p.E483K	retained_intron, protein_coding, processed_transcript	uc010fqt.1	nonsynonymous SNV	exon7	c.G1447A	p.E483K	TTKSYPSKLARNESRSGSNRRERGA	TTKSYPSKLARNKSRSGSNRRERGA	9.0	6.0	unscreened	-	3713_2:175431807-175431807 C>T_TTKSYPSKLARNKSRSGSNRRERGA
7:50467833-50467833 G>C	0.0	3713	MELANOMA	-	-	-	1	IKZF1	NM_001291838,p.E269D|ENST00000438033,p.E269D|uc022acs.1,p.E86D|uc003toz.4,p.E326D|ENST00000357364,p.E269D|uc022acu.1,p.E269D|uc011kck.2,p.E269D|uc022act.1,p.E259D|NM_001291843,p.E171D|ENST00000331340,p.E356D|NM_001291844,p.E161D|uc022acx.1,p.E269D|uc022acz.1,p.E173D|NM_001220771,p.E213D|NM_001220767,p.E259D|NM_001220768,p.E269D|NM_001291842,p.E203D|uc003toy.4,p.E314D|NM_001220765,p.E314D|uc022acr.1,p.E131D|NM_001291840,p.E126D|NM_001291837,p.E314D|uc022acw.1,p.E227D|NM_006060,p.E356D|ENST00000343574,p.E269D|uc010kyx.3,p.E96D|uc003tow.4,p.E356D|ENST00000359197,p.E314D|uc003tox.4,p.E314D|ENST00000346667,p.E126D|ENST00000439701,p.E314D|uc022acq.1,p.E213D|uc003tpa.4,p.E121D|NM_001291839,p.E227D|uc022acy.1,p.E163D|uc022acv.1,p.E217D|NM_001291841,p.E213D|ENST00000349824,p.E213D|NM_001220770,p.E217D	retained_intron, protein_coding, processed_transcript	uc022acz.1	nonsynonymous SNV	exon5	c.G519C	p.E173D	ISPMYQLHKPLAEGTPRSNHSAQDS	ISPMYQLHKPLADGTPRSNHSAQDS	7.0	6.0	unscreened	-	3713_7:50467833-50467833 G>C_ISPMYQLHKPLADGTPRSNHSAQDS
22:28193876-28193876 C>T	0.0	3713	MELANOMA	-	-	-	1	MN1	uc003adj.3,p.G886R|NM_002430,p.G886R|ENST00000302326,p.G886R	protein_coding, processed_transcript, nonsense_mediated_decay	uc003adj.3	nonsynonymous SNV	exon1	c.G2656A	p.G886R	PGSDYFPGGTAPGAPGPGGPSGTSS	PGSDYFPGGTAPRAPGPGGPSGTSS	3.0	6.0	unscreened	-	3713_22:28193876-28193876 C>T_PGSDYFPGGTAPRAPGPGGPSGTSS
1:26349255-26349255 C>T	0.0	3713	MELANOMA	-	-	-	-	EXTL1	uc001blf.3,p.P40S|NM_004455,p.P40S|ENST00000374280,p.P40S	protein_coding, processed_transcript	uc001blf.3	nonsynonymous SNV	exon1	c.C118T	p.P40S	SLLRLALPPRPRPGASQGWPRWLDA	SLLRLALPPRPRSGASQGWPRWLDA	4.0	3.0	unscreened	-	3713_1:26349255-26349255 C>T_SLLRLALPPRPRSGASQGWPRWLDA
5:154394926-154394926 G>A	0.0	3713	MELANOMA	-	-	-	-	KIF4B	uc010jih.1,p.E503K|NM_001099293,p.E503K|ENST00000435029,p.E503K	protein_coding	uc010jih.1	nonsynonymous SNV	exon1	c.G1507A	p.E503K	AVEEEAQVETSPETSRSSDAFTTQH	AVEEEAQVETSPKTSRSSDAFTTQH	1.0	7.0	unscreened	-	3713_5:154394926-154394926 G>A_AVEEEAQVETSPKTSRSSDAFTTQH
12:7805417-7805417 G>A	0.0	3713	MELANOMA	-	-	-	-	APOBEC1	ENST00000467171,p.P11S	protein_coding, nonsense_mediated_decay	ENST00000467171	nonsynonymous SNV	exon2	c.C31T	p.P11S	MTSEKGEESNPGSLTSSMTPENF	MTSEKGEESNSGSLTSSMTPENF	1.0	5.0	unscreened	-	3713_12:7805417-7805417 G>A_MTSEKGEESNSGSLTSSMTPENF
20:60485542-60485542 G>A	0.0	3713	MELANOMA	-	-	ID=COSM3841425;OCCURENCE=1(breast)	-	CDH4	ENST00000360469,p.R418Q|uc002ybr.2,p.R381Q|uc002ybp.2,p.R344Q|ENST00000543233,p.R344Q|NM_001252338,p.R381Q|uc002ybn.2,p.R418Q|NM_001252339,p.R344Q|NM_001794,p.R418Q	protein_coding	uc002ybr.2	nonsynonymous SNV	exon8	c.G1142A	p.R381Q	VETVVANLTVMDRDQPHSPNWNAVY	VETVVANLTVMDQDQPHSPNWNAVY	1.0	7.0	unscreened	-	3713_20:60485542-60485542 G>A_VETVVANLTVMDQDQPHSPNWNAVY
6:70972981-70972981 C>T	0.0	3713	MELANOMA	-	-	-	-	COL9A1	NM_001851,p.G454E|ENST00000370499,p.G211E|NM_078485,p.G211E|uc003pfe.4,p.G27E|uc003pfg.4,p.G454E|uc003pff.4,p.G211E|ENST00000357250,p.G454E|ENST00000320755,p.G211E	retained_intron, protein_coding, processed_transcript	uc003pfg.4	nonsynonymous SNV	exon19	c.G1361A	p.G454E	GRQGHKGEEGDQGELGEVGAQGPPG	GRQGHKGEEGDQEELGEVGAQGPPG	1.0	4.0	unscreened	-	3713_6:70972981-70972981 C>T_GRQGHKGEEGDQEELGEVGAQGPPG
1:207812749-207812749 C>T	0.0	3713	MELANOMA	-	-	-	-	CR1	ENST00000400960,p.P2039S|uc001hfy.3,p.P2039S|ENST00000367053,p.P2039S|ENST00000367052,p.P2039S|uc021pij.1,p.P2039S|ENST00000367049,p.P2489S|NM_000573,p.P2039S|uc001hfx.3,p.P2489S|NM_000651,p.P2489S|ENST00000367051,p.P2039S	retained_intron, protein_coding, processed_transcript	uc021pij.1	nonsynonymous SNV	exon39	c.C6115T	p.P2039S	TLQTNEENSRVLP	TLQTNEENSRVLS	3.0	8.0	unscreened	-	3713_1:207812749-207812749 C>T_TLQTNEENSRVLS
8:23538897-23538897 C>T	1.0	3713	MELANOMA	-	-	-	-	NKX3-1	NM_006167,p.R181Q|uc031tao.1,p.R106Q|ENST00000380871,p.R181Q|uc011kzx.2,p.R181Q|ENST00000523261,p.R106Q|NM_001256339,p.R106Q	protein_coding	uc031tao.1	nonsynonymous SNV	exon3	c.G317A	p.R106Q	KIWFQNRRYKTKRKQLSSELGDLEK	KIWFQNRRYKTKQKQLSSELGDLEK	2.0	3.0	-	-	3713_8:23538897-23538897 C>T_KIWFQNRRYKTKQKQLSSELGDLEK
10:19498315-19498315 G>A	0.0	3713	MELANOMA	-	-	-	-	MALRD1	ENST00000454679,p.M195I|ENST00000377266,p.M208I|NM_001142308,p.M899I	protein_coding, processed_transcript	NM_001142308	nonsynonymous SNV	exon18	c.G2697A	p.M899I	SQGPTPTLNTGPMKDNTLGTAKGHY	SQGPTPTLNTGPIKDNTLGTAKGHY	1.0	6.0	unscreened	-	3713_10:19498315-19498315 G>A_SQGPTPTLNTGPIKDNTLGTAKGHY
1:202531973-202531973 C>T	1.0	3713	MELANOMA	-	-	-	-	PPP1R12B	uc001gyb.1,p.R85C|NM_001197131,p.R63C|ENST00000406302,p.R859C|NM_032104,p.R85C|uc001gya.2,p.R859C|ENST00000367270,p.R85C|uc021pho.1,p.R63C|uc001gyc.1,p.R85C|ENST00000391959,p.R85C|ENST00000336894,p.R859C|NM_032103,p.R85C|NM_002481,p.R859C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pho.1	nonsynonymous SNV	exon3	c.C187T	p.R63C	SDSYGDRASARARREAREARLATLT	SDSYGDRASARACREAREARLATLT	6.0	5.0	unscreened	-	3713_1:202531973-202531973 C>T_SDSYGDRASARACREAREARLATLT
10:21115453-21115453 C>T	0.0	3713	MELANOMA	-	-	-	-	NEBL	ENST00000377122,p.E598K|NM_006393,p.E598K|uc001iqi.3,p.E598K	retained_intron, protein_coding, processed_transcript	uc001iqi.3	nonsynonymous SNV	exon18	c.G1792A	p.E598K	TQQNISAVFYKKEVGAGTAVKDSPE	TQQNISAVFYKKKVGAGTAVKDSPE	1.0	5.0	unscreened	-	3713_10:21115453-21115453 C>T_TQQNISAVFYKKKVGAGTAVKDSPE
3:49897118-49897118 G>A	0.0	3713	MELANOMA	-	-	-	-	CAMKV	ENST00000296471,p.A352V|ENST00000477224,p.A380V|uc003cxv.1,p.A352V|uc011bcy.1,p.A305V|uc003cxw.1,p.A212V|ENST00000467248,p.A305V|uc003cxx.1,p.A212V|uc003cxt.1,p.A380V|NM_024046,p.A380V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bcy.1	nonsynonymous SNV	exon11	c.C914T	p.A305V	GDAARAAKSDNVAPADRSATPATDG	GDAARAAKSDNVVPADRSATPATDG	1.0	4.0	unscreened	-	3713_3:49897118-49897118 G>A_GDAARAAKSDNVVPADRSATPATDG
19:9075016-9075016 C>T	0.0	3713	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.D4144N|uc002mkp.3,p.D4144N|NM_024690,p.D4144N	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.G12430A	p.D4144N	SEKTTLFSKGPEDTSQPSPPSVEET	SEKTTLFSKGPENTSQPSPPSVEET	1.0	3.0	unscreened	-	3713_19:9075016-9075016 C>T_SEKTTLFSKGPENTSQPSPPSVEET
10:6005711-6005711 C>T	0.0	3713	MELANOMA	-	-	-	-	IL15RA	ENST00000397251,p.G61E|uc021pmo.1,p.G212E|uc001iiv.3,p.G126E|ENST00000397248,p.G90E|ENST00000525219,p.G90E|NM_002189,p.G126E|NM_001256765,p.G212E|ENST00000397255,p.G126E|ENST00000379977,p.G126E|NM_001243539,p.G90E|ENST00000453922,p.G89E|uc001iiw.3,p.G90E	protein_coding, processed_transcript	uc021pmo.1	nonsynonymous SNV	exon4	c.G635A	p.G212E	GVTPQPESLSPSGKEPAASSPSSNN	GVTPQPESLSPSEKEPAASSPSSNN	4.0	3.0	unscreened	-	3713_10:6005711-6005711 C>T_GVTPQPESLSPSEKEPAASSPSSNN
10:132896609-132896609 C>T	0.0	3713	MELANOMA	-	-	-	-	TCERG1L	NM_174937,p.E522K|uc001lkp.3,p.E522K|ENST00000368642,p.E522K	retained_intron, protein_coding	uc001lkp.3	nonsynonymous SNV	exon11	c.G1564A	p.E522K	KEKKSKLLLAKEEFKKLLEESKVSP	KEKKSKLLLAKEKFKKLLEESKVSP	1.0	3.0	unscreened	-	3713_10:132896609-132896609 C>T_KEKKSKLLLAKEKFKKLLEESKVSP
1:181022802-181022802 G>A	1.0	3713	MELANOMA	-	-	-	-	MR1	uc001gos.2,p.R233K|ENST00000367579,p.R280K|NM_001194999,p.R280K|NM_001195000,p.R233K|ENST00000367580,p.R325K|uc001goq.2,p.R325K|ENST00000282990,p.R233K|NM_001531,p.R325K|uc001gor.2,p.R280K	retained_intron, protein_coding, processed_transcript	uc001gos.2	nonsynonymous SNV	exon5	c.G698A	p.R233K	IVLAGVGVLVWRRRPREQNGAIYLP	IVLAGVGVLVWRKRPREQNGAIYLP	6.0	6.0	-	-	3713_1:181022802-181022802 G>A_IVLAGVGVLVWRKRPREQNGAIYLP
4:183694735-183694735 G>A	0.0	3713	MELANOMA	0.0014	-	ID=COSM246178;OCCURENCE=1(prostate)	-	TENM3	ENST00000511685,p.R1668Q|uc003ivd.1,p.R1668Q|NM_001080477,p.R1668Q|ENST00000406950,p.R1668Q	retained_intron, protein_coding, processed_transcript	uc003ivd.1	nonsynonymous SNV	exon22	c.G5003A	p.R1668Q	DKAITVDIESSSREEDVSITSNLSS	DKAITVDIESSSQEEDVSITSNLSS	2.0	5.0	unscreened	-	3713_4:183694735-183694735 G>A_DKAITVDIESSSQEEDVSITSNLSS
8:69243566-69243566 C>T	0.0	3713	MELANOMA	-	-	-	-	C8orf34	uc003xxx.4,p.G53R|ENST00000512294,p.G53R	 processed_transcript,protein_coding, nonsense_mediated_decay	uc003xxx.4	nonsynonymous SNV	exon1	c.G157A	p.G53R	GTALLHSALPQTGDRSCSSPGWTPN	GTALLHSALPQTRDRSCSSPGWTPN	1.0	3.0	unscreened	-	3713_8:69243566-69243566 C>T_GTALLHSALPQTRDRSCSSPGWTPN
18:57106917-57106917 C>T	1.0	3713	MELANOMA	-	-	-	-	CCBE1	uc002lia.3,p.G156S|ENST00000439986,p.G303S|NM_133459,p.G303S|uc002lib.3,p.G303S	retained_intron, protein_coding	uc002lib.3	nonsynonymous SNV	exon8	c.G907A	p.G303S	SPDLSHIKQGRRGPVGPPGAPGRDG	SPDLSHIKQGRRSPVGPPGAPGRDG	2.0	6.0	unscreened	-	3713_18:57106917-57106917 C>T_SPDLSHIKQGRRSPVGPPGAPGRDG
19:9071866-9071866 C>T	0.0	3713	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.E5194K|uc002mkp.3,p.E5194K|NM_024690,p.E5194K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.G15580A	p.E5194K	REPTYFLTPRLRETSTSQESSFPTD	REPTYFLTPRLRKTSTSQESSFPTD	1.0	4.0	unscreened	-	3713_19:9071866-9071866 C>T_REPTYFLTPRLRKTSTSQESSFPTD
1:152759992-152759992 G>A	0.0	3713	MELANOMA	-	-	-	-	LCE1E	NM_178353,p.G73S|ENST00000368770,p.G73S|uc001fan.3,p.G73S|uc021ozg.1,p.G73S|ENST00000368771,p.G73S	protein_coding	uc021ozg.1	nonsynonymous SNV	exon1	c.G217A	p.G73S	GSSSGGCCSSGGGGCCLSHHRHHRS	GSSSGGCCSSGGSGCCLSHHRHHRS	1.0	4.0	unscreened	-	3713_1:152759992-152759992 G>A_GSSSGGCCSSGGSGCCLSHHRHHRS
6:74019282-74019282 T>G	0.0	3713	MELANOMA	-	-	-	-	KHDC1	ENST00000370384,p.R52S|uc003pgo.3,p.R52S|NM_001251874,p.R52S	protein_coding, processed_transcript	uc003pgo.3	nonsynonymous SNV	exon1	c.A156C	p.R52S	LIGTVSFHLWIRRNRERNSRSGKTR	LIGTVSFHLWIRSNRERNSRSGKTR	1.0	7.0	unscreened	-	3713_6:74019282-74019282 T>G_LIGTVSFHLWIRSNRERNSRSGKTR
22:43634858-43634858 C>T	0.0	3713	MELANOMA	-	-	-	-	SCUBE1	uc003bdu.2,p.G307E|ENST00000290460,p.G307E	protein_coding, processed_transcript	uc003bdu.2	nonsynonymous SNV	exon8	c.G920A	p.G307E	CSCPVGFTLQPDGKTCKGQHVELCG	CSCPVGFTLQPDEKTCKGQHVELCG	1.0	7.0	unscreened	-	3713_22:43634858-43634858 C>T_CSCPVGFTLQPDEKTCKGQHVELCG
22:23237713-23237713 G>A	0.0	3713	MELANOMA	-	-	-	-	IGLL5	uc021wmq.1,p.E163K|NM_001178126,p.E162K|uc011aiw.2,p.E162K|uc010gtu.3,p.E87K|NM_001256296,p.E87K|ENST00000526893,p.E162K|ENST00000532223,p.E163K	IG_C_gene,protein_coding	uc021wmq.1	nonsynonymous SNV	exon3	c.G487A	p.E163K	WKADGSPVKAGVETTKPSKQSNNKY	WKADGSPVKAGVKTTKPSKQSNNKY	10.0	7.0	unscreened	-	3713_22:23237713-23237713 G>A_WKADGSPVKAGVKTTKPSKQSNNKY
15:90145182-90145182 C>T	1.0	3713	MELANOMA	0.0005	-	-	-	TICRR	uc021sug.1,p.R847C|uc002boe.3,p.R848C|ENST00000268138,p.R848C|NM_152259,p.R848C|ENST00000560985,p.R847C	protein_coding, nonsense_mediated_decay	uc021sug.1	nonsynonymous SNV	exon12	c.C2539T	p.R847C	SGSPESDELQELRTRSAKKRRKNAL	SGSPESDELQELCTRSAKKRRKNAL	2.0	7.0	unscreened	-	3713_15:90145182-90145182 C>T_SGSPESDELQELCTRSAKKRRKNAL
8:17188764-17188764 C>T	0.0	3713	MELANOMA	-	-	-	-	MTMR7	ENST00000180173,p.G254R|uc003wxm.3,p.G254R|NM_004686,p.G254R|uc003wxn.3,p.G33R|ENST00000521857,p.G254R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003wxn.3	nonsynonymous SNV	exon3	c.G97A	p.G33R	RPKLNAMANRAAGKGYENEDNYSNI	RPKLNAMANRAARKGYENEDNYSNI	1.0	6.0	unscreened	-	3713_8:17188764-17188764 C>T_RPKLNAMANRAARKGYENEDNYSNI
1:153177460-153177460 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1334269;OCCURENCE=1(large_intestine)	-	LELP1	ENST00000368747,p.P93S|uc001fbl.4,p.P93S|uc021ozv.1,p.P93S|NM_001010857,p.P93S	protein_coding	uc021ozv.1	nonsynonymous SNV	exon1	c.C277T	p.P93S	KCPSSCPHACPPPCPPPE	KCPSSCPHACPPSCPPPE	1.0	5.0	unscreened	-	3713_1:153177460-153177460 C>T_KCPSSCPHACPPSCPPPE
5:38406964-38406964 A>G	0.0	3713	MELANOMA	-	-	-	-	EGFLAM	NM_001205301,p.K288R|uc003jlc.2,p.K288R|ENST00000336740,p.K54R|NM_152403,p.K288R|uc003jle.2,p.K54R|ENST00000322350,p.K288R|ENST00000354891,p.K288R|NM_182798,p.K54R|uc003jlb.2,p.K288R	retained_intron, protein_coding, nonsense_mediated_decay	uc003jle.2	nonsynonymous SNV	exon3	c.A161G	p.K54R	EVKPLPATKGGNKKFLVESKKMSIS	EVKPLPATKGGNRKFLVESKKMSIS	3.0	3.0	unscreened	-	3713_5:38406964-38406964 A>G_EVKPLPATKGGNRKFLVESKKMSIS
18:31319376-31319376 G>A	0.0	3713	MELANOMA	-	-	-	-	ASXL3	ENST00000269197,p.E670K|NM_030632,p.E670K|uc002kxq.2,p.E377K|uc010dmg.1,p.E670K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dmg.1	nonsynonymous SNV	exon11	c.G2008A	p.E670K	NTDKYNQRNSTDENFHASLMSEISP	NTDKYNQRNSTDKNFHASLMSEISP	1.0	6.0	unscreened	-	3713_18:31319376-31319376 G>A_NTDKYNQRNSTDKNFHASLMSEISP
10:50534366-50534366 G>A	0.0	3713	MELANOMA	-	-	-	-	C10orf71	NM_001135196,p.G1259E|ENST00000374144,p.G1259E|uc021pqa.2,p.G1259E|uc021pqb.1,p.G1259E	protein_coding, processed_transcript	uc021pqb.1	nonsynonymous SNV	exon1	c.G3776A	p.G1259E	VSGFSEPVGRRPGGPQSLTPLPAYP	VSGFSEPVGRRPEGPQSLTPLPAYP	1.0	5.0	unscreened	-	3713_10:50534366-50534366 G>A_VSGFSEPVGRRPEGPQSLTPLPAYP
X:3242090-3242090 C>T	0.0	3713	MELANOMA	-	-	-	-	MXRA5	ENST00000217939,p.E546K|uc004crg.4,p.E546K|NM_015419,p.E546K	protein_coding	uc004crg.4	nonsynonymous SNV	exon5	c.G1636A	p.E546K	ILSSGWLRIKSMEPSDSGLYQCIAQ	ILSSGWLRIKSMKPSDSGLYQCIAQ	5.0	6.0	unscreened	-	3713_X:3242090-3242090 C>T_ILSSGWLRIKSMKPSDSGLYQCIAQ
1:186276838-186276838 G>A	0.0	3713	MELANOMA	-	-	-	-	PRG4	uc009wym.3,p.E529K|NM_005807,p.E663K|ENST00000367482,p.E529K|ENST00000367486,p.E620K|uc009wyl.3,p.E570K|ENST00000367485,p.E570K|ENST00000445192,p.E663K|NM_001127708,p.E622K|NM_001127709,p.E570K|ENST00000367483,p.E622K|uc001grt.4,p.E622K|uc001gru.4,p.E663K|NM_001127710,p.E529K	protein_coding	uc009wym.3	nonsynonymous SNV	exon4	c.G1585A	p.E529K	TTPEEPTPTTPEEPAPTTPKAAAPN	TTPEEPTPTTPEKPAPTTPKAAAPN	1.0	3.0	unscreened	-	3713_1:186276838-186276838 G>A_TTPEEPTPTTPEKPAPTTPKAAAPN
2:85046474-85046474 G>A	0.0	3713	MELANOMA	0.01	-	-	-	DNAH6	ENST00000389394,p.R4140Q|ENST00000237449,p.R4140Q|uc010fgb.3,p.R4140Q|NM_001370,p.R4140Q	retained_intron, protein_coding, processed_transcript	uc010fgb.3	nonsynonymous SNV	exon77	c.G12419A	p.R4140Q	TNFVVTVLLPSKRSKDYWIAKGSAL	TNFVVTVLLPSKQSKDYWIAKGSAL	1.0	6.0	unscreened	-	3713_2:85046474-85046474 G>A_TNFVVTVLLPSKQSKDYWIAKGSAL
11:64067141-64067141 G>A	0.0	3713	MELANOMA	-	-	-	-	KCNK4	uc001nzl.1,p.E260K|uc001nzk.1,p.E260K|ENST00000538767,p.E260K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001nzl.1	nonsynonymous SNV	exon7	c.G778A	p.E260K	RAERSPPPKSPQEARAAPRPRASPR	RAERSPPPKSPQKARAAPRPRASPR	1.0	7.0	unscreened	-	3713_11:64067141-64067141 G>A_RAERSPPPKSPQKARAAPRPRASPR
17:38859534-38859534 C>T	0.0	3713	MELANOMA	-	-	-	-	KRT24	NM_019016,p.G138R|uc002hvd.3,p.G138R|ENST00000264651,p.G138R	protein_coding	uc002hvd.3	nonsynonymous SNV	exon1	c.G412A	p.G138R	MGGGVGDGGLFSGGEKQTMQNLNDR	MGGGVGDGGLFSRGEKQTMQNLNDR	1.0	7.0	unscreened	-	3713_17:38859534-38859534 C>T_MGGGVGDGGLFSRGEKQTMQNLNDR
7:82595698-82595698 G>A	1.0	3713	MELANOMA	-	-	-	-	PCLO	NM_033026,p.P1136S|NM_014510,p.P1136S|ENST00000333891,p.P1136S|ENST00000423517,p.P1136S|uc003uhx.2,p.P1136S|uc003uhv.2,p.P1136S	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon4	c.C3406T	p.P1136S	KMPPAPSGPKASPMPVPTESSSQKT	KMPPAPSGPKASSMPVPTESSSQKT	2.0	6.0	unscreened	-	3713_7:82595698-82595698 G>A_KMPPAPSGPKASSMPVPTESSSQKT
7:143657761-143657761 G>A	0.0	3713	MELANOMA	-	-	-	-	OR2F1	ENST00000392899,p.G233E|NM_012369,p.G233E|uc003wds.1,p.G233E	protein_coding	uc003wds.1	nonsynonymous SNV	exon1	c.G698A	p.G233E	IISTILKIQSREGRKKAFHTCASHL	IISTILKIQSREERKKAFHTCASHL	1.0	5.0	unscreened	-	3713_7:143657761-143657761 G>A_IISTILKIQSREERKKAFHTCASHL
18:10789298-10789298 C>T	1.0	3713	MELANOMA	-	-	-	-	PIEZO2	ENST00000503781,p.E650K|ENST00000580640,p.E650K|ENST00000582913,p.E650K|ENST00000302079,p.E650K|NM_022068,p.E650K|uc002kos.2,p.E650K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kos.2	nonsynonymous SNV	exon15	c.G1948A	p.E650K	GEPKEEEEEEAKEEKQERKKVEQEE	GEPKEEEEEEAKKEKQERKKVEQEE	2.0	3.0	unscreened	-	3713_18:10789298-10789298 C>T_GEPKEEEEEEAKKEKQERKKVEQEE
16:61687901-61687901 C>T	0.0	3713	MELANOMA	-	-	-	-	CDH8	uc002eog.2,p.G671R|ENST00000577730,p.G671R|NM_001796,p.G671R|ENST00000577390,p.G671R|ENST00000299345,p.G671R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002eog.2	nonsynonymous SNV	exon12	c.G2011A	p.G671R	DVRENIIRYDDEGGGEEDTEAFDIA	DVRENIIRYDDERGGEEDTEAFDIA	1.0	3.0	unscreened	-	3713_16:61687901-61687901 C>T_DVRENIIRYDDERGGEEDTEAFDIA
7:70885922-70885922 G>A	0.0	3713	MELANOMA	-	-	-	-	WBSCR17	uc003tvy.4,p.E265K|NM_022479,p.E265K|ENST00000333538,p.E265K	protein_coding, processed_transcript	uc003tvy.4	nonsynonymous SNV	exon5	c.G793A	p.E265K	AGWAEPVLSRIQENRKRVILPSIDN	AGWAEPVLSRIQKNRKRVILPSIDN	1.0	4.0	unscreened	-	3713_7:70885922-70885922 G>A_AGWAEPVLSRIQKNRKRVILPSIDN
12:29542765-29542765 A>C	0.0	3713	MELANOMA	-	-	-	-	OVCH1-AS1	uc031qgu.1,p.Q109H	protein_coding, processed_transcript	uc031qgu.1	nonsynonymous SNV	exon1	c.A327C	p.Q109H	IGRDRPSPDDNGQRPSGAWKKLFSR	IGRDRPSPDDNGHRPSGAWKKLFSR	1.0	7.0	unscreened	-	3713_12:29542765-29542765 A>C_IGRDRPSPDDNGHRPSGAWKKLFSR
1:181685224-181685224 G>A	0.0	3713	MELANOMA	-	-	-	-	CACNA1E	uc001gow.3,p.R425Q|NM_000721,p.R425Q|ENST00000367567,p.R32Q|ENST00000360108,p.R425Q|NM_001205294,p.R425Q|ENST00000367570,p.R425Q|uc009wxt.3,p.R425Q|ENST00000358338,p.R376Q|ENST00000526775,p.R425Q|ENST00000357570,p.R376Q|ENST00000367573,p.R425Q|NM_001205293,p.R425Q|uc009wxs.3,p.R425Q|ENST00000524607,p.R425Q	retained_intron, protein_coding	uc009wxt.3	nonsynonymous SNV	exon10	c.G1274A	p.R425Q	ATIKRSRTEAMTRDSSDEHCVDISS	ATIKRSRTEAMTQDSSDEHCVDISS	1.0	4.0	unscreened	-	3713_1:181685224-181685224 G>A_ATIKRSRTEAMTQDSSDEHCVDISS
10:129914758-129914758 G>A	1.0	3713	MELANOMA	-	-	-	-	MKI67	uc001lkf.3,p.P133S|uc009yav.1,p.P68S|NM_001145966,p.P133S|ENST00000368653,p.P133S	protein_coding, processed_transcript	uc009yav.1	nonsynonymous SNV	exon3	c.C202T	p.P68S	ARRVSRSSFSSDPDESEGIPLKRRR	ARRVSRSSFSSDSDESEGIPLKRRR	5.0	6.0	-	-	3713_10:129914758-129914758 G>A_ARRVSRSSFSSDSDESEGIPLKRRR
7:94898015-94898015 G>A	0.0	3713	MELANOMA	-	-	-	-	PPP1R9A	NM_001166161,p.R918K|ENST00000289495,p.R918K|uc011kif.2,p.R918K	protein_coding	uc011kif.2	nonsynonymous SNV	exon11	c.G2753A	p.R918K	SVSSTDGEDSLERKGLRTSSPESDS	SVSSTDGEDSLEKKGLRTSSPESDS	3.0	3.0	unscreened	-	3713_7:94898015-94898015 G>A_SVSSTDGEDSLEKKGLRTSSPESDS
1:169388260-169388260 C>T	0.0	3713	MELANOMA	-	-	-	-	CCDC181	NM_001300968,p.M402I|uc001gfz.1,p.M402I|NM_021179,p.M402I|ENST00000545005,p.M402I|ENST00000367805,p.M402I|uc009wvq.1,p.M402I	protein_coding, processed_transcript	uc009wvq.1	nonsynonymous SNV	exon5	c.G1206A	p.M402I	MRRIQRAKEIEDMNSRENRDPQQAF	MRRIQRAKEIEDINSRENRDPQQAF	1.0	4.0	unscreened	-	3713_1:169388260-169388260 C>T_MRRIQRAKEIEDINSRENRDPQQAF
5:121780306-121780306 G>A	0.0	3713	MELANOMA	-	-	-	-	SNCAIP	ENST00000261368,p.E491K|uc010jcu.2,p.E87K|uc003ksw.1,p.E491K|uc010jcw.1,p.E185K|ENST00000414317,p.E93K|ENST00000542191,p.E49K|ENST00000509154,p.E431K|uc003ksz.1,p.E125K|uc010jcx.1,p.E431K|uc011cwl.1,p.E49K|uc003ksx.1,p.E538K|NM_005460,p.E491K|ENST00000261367,p.E538K|ENST00000379538,p.E125K|ENST00000379536,p.E431K|NM_001242935,p.E125K|uc003ksy.1,p.E125K|uc003kta.1,p.E123K|ENST00000379533,p.E538K|uc011cwm.1,p.E125K	retained_intron, protein_coding, nonsense_mediated_decay	uc011cwm.1	nonsynonymous SNV	exon6	c.G373A	p.E125K	YGANVTMQNHAGEKPSQSAERQGHT	YGANVTMQNHAGKKPSQSAERQGHT	1.0	3.0	unscreened	-	3713_5:121780306-121780306 G>A_YGANVTMQNHAGKKPSQSAERQGHT
8:10468961-10468961 C>T	0.0	3713	MELANOMA	-	-	-	-	RP1L1	ENST00000382483,p.G883R|uc003wtc.3,p.G883R|NM_178857,p.G883R	protein_coding, processed_transcript	uc003wtc.3	nonsynonymous SNV	exon4	c.G2647A	p.G883R	GSTGSSHQSTARGPGGSPQEGTRQP	GSTGSSHQSTARRPGGSPQEGTRQP	1.0	3.0	unscreened	-	3713_8:10468961-10468961 C>T_GSTGSSHQSTARRPGGSPQEGTRQP
12:79679732-79679732 G>A	1.0	3713	MELANOMA	-	-	-	-	SYT1	uc001sys.3,p.G111E|ENST00000446242,p.G111E|ENST00000393240,p.G111E|NM_005639,p.G111E|uc001syt.3,p.G111E|NM_001135806,p.G111E|NM_001135805,p.G111E|uc001syv.3,p.G111E|ENST00000261205,p.G111E|ENST00000552744,p.G111E	protein_coding, processed_transcript	uc001syv.3	nonsynonymous SNV	exon4	c.G332A	p.G111E	KNAINMKDVKDLGKTMKDQALKDDD	KNAINMKDVKDLEKTMKDQALKDDD	1.0	5.0	unscreened	-	3713_12:79679732-79679732 G>A_KNAINMKDVKDLEKTMKDQALKDDD
5:31323026-31323026 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1695535;OCCURENCE=2(skin)	-	CDH6	NM_004932,p.E662K|uc003jhe.2,p.E662K|ENST00000265071,p.E662K	retained_intron, protein_coding	uc003jhe.2	nonsynonymous SNV	exon12	c.G1984A	p.E662K	EDIRDNIVSYNDEGGGEEDTQAFDI	EDIRDNIVSYNDKGGGEEDTQAFDI	1.0	3.0	unscreened	-	3713_5:31323026-31323026 G>A_EDIRDNIVSYNDKGGGEEDTQAFDI
16:27818871-27818871 C>T	0.0	3713	MELANOMA	-	-	-	-	GSG1L	uc010bxz.1,p.E142K|ENST00000569166,p.E142K|ENST00000380898,p.E142K	protein_coding, nonsense_mediated_decay	uc010bxz.1	nonsynonymous SNV	exon5	c.G424A	p.E142K	GRATCPRSHSWMEKRDGSEEDFHLD	GRATCPRSHSWMKKRDGSEEDFHLD	1.0	3.0	unscreened	-	3713_16:27818871-27818871 C>T_GRATCPRSHSWMKKRDGSEEDFHLD
19:2876261-2876261 G>A	0.0	3713	MELANOMA	-	-	-	-	ZNF556	ENST00000586426,p.E101K|NM_001300843,p.E101K|uc002lwq.3,p.E101K	protein_coding, nonsense_mediated_decay	uc002lwq.3	nonsynonymous SNV	exon3	c.G301A	p.E101K	EEHSVKDKHNTKERHLRNPRVERPC	EEHSVKDKHNTKKRHLRNPRVERPC	1.0	3.0	unscreened	-	3713_19:2876261-2876261 G>A_EEHSVKDKHNTKKRHLRNPRVERPC
20:43837277-43837277 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1412024;OCCURENCE=1(large_intestine)	-	SEMG1	uc002xni.2,p.R447C|ENST00000244069,p.R387C|NM_003007,p.R447C|ENST00000372781,p.R447C|uc002xnj.2,p.R387C	protein_coding	uc002xnj.2	nonsynonymous SNV	exon3	c.C1159T	p.R387C	DIVIIEQEDDSDRHLAQHLNNDRNP	DIVIIEQEDDSDCHLAQHLNNDRNP	1.0	5.0	unscreened	-	3713_20:43837277-43837277 C>T_DIVIIEQEDDSDCHLAQHLNNDRNP
2:98996810-98996810 G>A	0.0	3713	MELANOMA	-	-	-	-	CNGA3	ENST00000409937,p.G134R|ENST00000393504,p.G130R|ENST00000272602,p.G130R|NM_001298,p.G130R|uc002syt.3,p.G130R|uc010fij.3,p.G134R	retained_intron, protein_coding	uc010fij.3	nonsynonymous SNV	exon4	c.G400A	p.G134R	QANVGSQEPADRGRSAWPLAKCNTN	QANVGSQEPADRRRSAWPLAKCNTN	1.0	6.0	unscreened	-	3713_2:98996810-98996810 G>A_QANVGSQEPADRRRSAWPLAKCNTN
11:48511033-48511033 G>A	0.0	3713	MELANOMA	-	-	-	-	OR4A47	NM_001005512,p.G230E|uc010rhx.2,p.G230E|ENST00000446524,p.G230E	protein_coding	uc010rhx.2	nonsynonymous SNV	exon1	c.G689A	p.G230E	VILHSLKNLSQKGRQKALSTCSSHM	VILHSLKNLSQKERQKALSTCSSHM	1.0	7.0	unscreened	-	3713_11:48511033-48511033 G>A_VILHSLKNLSQKERQKALSTCSSHM
22:51133394-51133394 G>A	0.0	3713	MELANOMA	-	-	-	-	SHANK3	uc031ryd.1,p.E408K|ENST00000445220,p.E408K|ENST00000262795,p.E408K|NM_033517,p.E408K|ENST00000414786,p.E408K	protein_coding	uc031ryd.1	nonsynonymous SNV	exon10	c.G1222A	p.E408K	LPHQLLLQRLQEEKDRDRDADQESN	LPHQLLLQRLQEKKDRDRDADQESN	3.0	3.0	unscreened	-	3713_22:51133394-51133394 G>A_LPHQLLLQRLQEKKDRDRDADQESN
2:231113639-231113639 G>A	0.0	3713	MELANOMA	-	-	-	-	SP140	NM_007237,p.G311E|ENST00000343805,p.G285E|NM_001278452,p.G285E|uc002vql.3,p.G311E|ENST00000392045,p.G311E|uc002vqk.2,p.G311E|NM_001278451,p.G311E|ENST00000486687,p.G235E|uc010fxl.3,p.G311E|NM_001278453,p.G258E|uc002vqn.3,p.G258E|ENST00000417495,p.G258E|ENST00000350136,p.G241E|uc002vqm.3,p.G285E|ENST00000420434,p.G311E	retained_intron, protein_coding, processed_transcript	uc010fxl.3	nonsynonymous SNV	exon9	c.G932A	p.G311E	TFDLKTPQVTNEGEPEKGLCLLPGE	TFDLKTPQVTNEEEPEKGLCLLPGE	5.0	5.0	unscreened	-	3713_2:231113639-231113639 G>A_TFDLKTPQVTNEEEPEKGLCLLPGE
1:169388260-169388260 C>T	0.0	3713	MELANOMA	-	-	-	-	CCDC181	NM_001300969,p.M402I|ENST00000367806,p.M402I|uc001gga.1,p.M402I	protein_coding, processed_transcript	uc001gga.1	nonsynonymous SNV	exon4	c.G1206A	p.M402I	MRRIQRAKEIEDMNSRQENRDPQQA	MRRIQRAKEIEDINSRQENRDPQQA	1.0	4.0	unscreened	-	3713_1:169388260-169388260 C>T_MRRIQRAKEIEDINSRQENRDPQQA
20:43850793-43850793 G>A	0.0	3713	MELANOMA	-	-	-	-	SEMG2	NM_003008,p.E174K|uc010ggz.3,p.E174K|uc002xnk.3,p.E174K|ENST00000372769,p.E174K|uc002xnl.3,p.E174K	protein_coding	uc010ggz.3	nonsynonymous SNV	exon2	c.G520A	p.E174K	TEKRLWVHGLSKEQASASGAQKGRT	TEKRLWVHGLSKKQASASGAQKGRT	1.0	4.0	unscreened	-	3713_20:43850793-43850793 G>A_TEKRLWVHGLSKKQASASGAQKGRT
3:185195115-185195115 G>C	1.0	3713	MELANOMA	-	-	-	1	MAP3K13	uc010hyg.3,p.S501T|NM_001242314,p.S811T|NM_004721,p.S811T|uc010hyf.3,p.S811T|ENST00000443863,p.S667T|ENST00000535426,p.S667T|ENST00000265026,p.S811T|ENST00000424227,p.S811T|uc011brt.2,p.S604T|ENST00000446828,p.S604T|uc003fpi.3,p.S811T|NM_001242317,p.S604T|uc011bru.2,p.S667T	retained_intron, protein_coding, nonsense_mediated_decay	uc011bru.2	nonsynonymous SNV	exon12	c.G2000C	p.S667T	PALPRKTRPLQKSGDDSSEEEEGEV	PALPRKTRPLQKTGDDSSEEEEGEV	9.0	7.0	-	-	3713_3:185195115-185195115 G>C_PALPRKTRPLQKTGDDSSEEEEGEV
1:192128444-192128444 G>A	0.0	3713	MELANOMA	-	-	-	-	RGS18	ENST00000367460,p.E72K|NM_130782,p.E72K|uc001gsg.3,p.E72K	protein_coding, processed_transcript	uc001gsg.3	nonsynonymous SNV	exon2	c.G214A	p.E72K	DTRSSRSGHLAKETRVSPEEAVKWG	DTRSSRSGHLAKKTRVSPEEAVKWG	3.0	7.0	unscreened	-	3713_1:192128444-192128444 G>A_DTRSSRSGHLAKKTRVSPEEAVKWG
6:31692564-31692564 C>T	0.0	3713	MELANOMA	-	-	-	-	C6orf25	ENST00000375809,p.P195S|uc003nwo.3,p.P151S|ENST00000375810,p.P195S|NM_138274,p.P151S|uc003nwn.3,p.P195S|uc003nwk.3,p.P195S|NM_025260,p.P195S|ENST00000375804,p.P151S|NM_138277,p.P195S	retained_intron, protein_coding, nonsense_mediated_decay	uc003nwo.3	nonsynonymous SNV	exon3	c.C451T	p.P151S	SPPHSSTCENRAPEASKGGRAQDSR	SPPHSSTCENRASEASKGGRAQDSR	1.0	7.0	unscreened	-	3713_6:31692564-31692564 C>T_SPPHSSTCENRASEASKGGRAQDSR
3:161214704-161214704 G>A	0.0	3713	MELANOMA	-	-	-	-	OTOL1	NM_001080440,p.E37K|ENST00000327928,p.E37K|uc011bpb.2,p.E37K	protein_coding	uc011bpb.2	nonsynonymous SNV	exon1	c.G109A	p.E37K	TTPHTKFTKKSEEREMPKGLKPSSG	TTPHTKFTKKSEKREMPKGLKPSSG	1.0	3.0	unscreened	-	3713_3:161214704-161214704 G>A_TTPHTKFTKKSEKREMPKGLKPSSG
7:143098515-143098515 C>T	0.0	3713	MELANOMA	-	-	-	-	EPHA1	ENST00000275815,p.G112R|uc003wcz.3,p.G112R|NM_005232,p.G112R	retained_intron, protein_coding, processed_transcript	uc003wcz.3	nonsynonymous SNV	exon3	c.G334A	p.G112R	QFTVRDCKSFPGGAGPLGCKETFNL	QFTVRDCKSFPGRAGPLGCKETFNL	1.0	6.0	unscreened	-	3713_7:143098515-143098515 C>T_QFTVRDCKSFPGRAGPLGCKETFNL
2:228883114-228883114 C>T	0.0	3713	MELANOMA	-	-	-	-	SPHKAP	uc002vpq.2,p.R819K|ENST00000392056,p.R819K|NM_030623,p.R819K|ENST00000344657,p.R819K|uc002vpp.2,p.R819K|NM_001142644,p.R819K|uc010zlx.1,p.R819K	retained_intron, protein_coding	uc010zlx.1	nonsynonymous SNV	exon7	c.G2456A	p.R819K	NPTLQSQLSRSHRVPDSSTATTSSK	NPTLQSQLSRSHKVPDSSTATTSSK	1.0	5.0	unscreened	-	3713_2:228883114-228883114 C>T_NPTLQSQLSRSHKVPDSSTATTSSK
19:52447497-52447497 C>T	0.0	3713	MELANOMA	-	-	-	-	ZNF613	uc002pxz.2,p.P121S|ENST00000293471,p.P121S|NM_001031721,p.P121S|NM_024840,p.P85S|ENST00000391794,p.P85S|uc002pya.2,p.P85S	protein_coding, processed_transcript	uc002pya.2	nonsynonymous SNV	exon6	c.C253T	p.P85S	FGNIIHQRKSDFPLRQNHDTFDLHG	FGNIIHQRKSDFSLRQNHDTFDLHG	3.0	6.0	unscreened	-	3713_19:52447497-52447497 C>T_FGNIIHQRKSDFSLRQNHDTFDLHG
8:104898308-104898308 C>A	0.0	3713	MELANOMA	-	-	-	-	RIMS2	uc003ylp.3,p.P494Q|ENST00000262231,p.P302Q|ENST00000408894,p.P302Q|ENST00000406091,p.P494Q|ENST00000436393,p.P272Q|uc003yls.3,p.P272Q|NM_001100117,p.P494Q|uc003ylr.3,p.P302Q|uc003ylw.2,p.P302Q|ENST00000515551,p.P302Q|NM_014677,p.P302Q|uc003ylq.3,p.P302Q|ENST00000507740,p.P302Q|NM_001282881,p.P302Q|ENST00000504942,p.P494Q	retained_intron, protein_coding, processed_transcript	uc003ylw.2	nonsynonymous SNV	exon2	c.C905A	p.P302Q	SLSSDQSESVRPPPPKPHKSKKGGK	SLSSDQSESVRPQPPKPHKSKKGGK	1.0	3.0	unscreened	-	3713_8:104898308-104898308 C>A_SLSSDQSESVRPQPPKPHKSKKGGK
4:138451400-138451400 C>T	0.0	3713	MELANOMA	-	-	-	-	PCDH18	ENST00000507846,p.E395K|ENST00000412923,p.E615K|uc003ihe.4,p.E615K|ENST00000344876,p.E615K|NM_019035,p.E615K|uc003ihf.4,p.E608K|uc003ihg.4,p.E395K|NM_001300828,p.E615K	protein_coding	uc003ihg.4	nonsynonymous SNV	exon2	c.G1183A	p.E395K	IRAIDRDSGVNAELSCAIVAGNEEN	IRAIDRDSGVNAKLSCAIVAGNEEN	3.0	6.0	unscreened	-	3713_4:138451400-138451400 C>T_IRAIDRDSGVNAKLSCAIVAGNEEN
1:158632602-158632602 C>T	0.0	3713	MELANOMA	-	-	ID=COSM897829;OCCURENCE=1(endometrium),2(central_nervous_system)	-	SPTA1	ENST00000368148,p.R785Q|uc001fst.1,p.R785Q|ENST00000368147,p.R785Q|NM_003126,p.R785Q	protein_coding, processed_transcript	uc001fst.1	nonsynonymous SNV	exon17	c.G2354A	p.R785Q	CRFEALKEPLATRKKKLLDLLHLQL	CRFEALKEPLATQKKKLLDLLHLQL	6.0	4.0	unscreened	-	3713_1:158632602-158632602 C>T_CRFEALKEPLATQKKKLLDLLHLQL
10:64415146-64415146 C>T	0.0	3713	MELANOMA	-	-	-	-	ZNF365	uc001jmd.1,p.P49L|ENST00000395251,p.P49L|NM_199452,p.P49L	protein_coding, processed_transcript, nonsense_mediated_decay	uc001jmd.1	nonsynonymous SNV	exon4	c.C146T	p.P49L	ETVKNKSTHLKKPLMKQAPPWKDHL	ETVKNKSTHLKKLLMKQAPPWKDHL	1.0	6.0	unscreened	-	3713_10:64415146-64415146 C>T_ETVKNKSTHLKKLLMKQAPPWKDHL
2:128341890-128341890 G>A	0.0	3713	MELANOMA	-	-	-	-	MYO7B	ENST00000389524,p.E513K|uc002top.3,p.E513K|ENST00000428314,p.E513K|ENST00000409816,p.E513K|NM_001080527,p.E513K	retained_intron, protein_coding	uc002top.3	nonsynonymous SNV	exon13	c.G1537A	p.E513K	LKPMSIISLLDEESRFPQGTDLTML	LKPMSIISLLDEKSRFPQGTDLTML	1.0	5.0	unscreened	-	3713_2:128341890-128341890 G>A_LKPMSIISLLDEKSRFPQGTDLTML
6:55638912-55638912 C>T	0.0	3713	MELANOMA	-	-	ID=COSM141161;OCCURENCE=1(upper_aerodigestive_tract),1(breast),2(skin)	2	BMP5	uc003pcq.3,p.R321Q|ENST00000370830,p.R321Q|ENST00000446683,p.R321Q|NM_021073,p.R321Q|uc011dxf.2,p.R321Q	protein_coding	uc011dxf.2	nonsynonymous SNV	exon4	c.G962A	p.R321Q	EVLLRSVRAANKRKNQNRNKSSSHQ	EVLLRSVRAANKQKNQNRNKSSSHQ	1.0	3.0	unscreened	-	3713_6:55638912-55638912 C>T_EVLLRSVRAANKQKNQNRNKSSSHQ
19:50155660-50155660 T>A	1.0	3713	MELANOMA	-	-	-	-	SCAF1	uc002poq.3,p.S672T|ENST00000360565,p.S672T|NM_021228,p.S672T	protein_coding	uc002poq.3	nonsynonymous SNV	exon7	c.T2014A	p.S672T	EKAPAPAPPPSGSTSCGDRDSRRRG	EKAPAPAPPPSGTTSCGDRDSRRRG	6.0	7.0	unscreened	-	3713_19:50155660-50155660 T>A_EKAPAPAPPPSGTTSCGDRDSRRRG
9:130507205-130507205 G>A	0.0	3713	MELANOMA	-	-	-	-	SH2D3C	uc004bsa.3,p.P323S|uc004brz.4,p.P126S|uc004bsb.3,p.P412S|NM_001252334,p.P412S|ENST00000314830,p.P480S|ENST00000429553,p.P126S|NM_001142531,p.P126S|NM_170600,p.P480S|ENST00000373276,p.P412S|ENST00000373277,p.P323S|uc011mak.2,p.P126S|NM_001142533,p.P322S|uc010mxo.3,p.P320S|uc004bsc.3,p.P480S|NM_001142534,p.P320S|NM_001142532,p.P126S|ENST00000420366,p.P322S|ENST00000373274,p.P320S|uc004bry.3,p.P322S|NM_005489,p.P323S	protein_coding, processed_transcript	uc011mak.2	nonsynonymous SNV	exon6	c.C376T	p.P126S	HTSPSHTLGKASPSPSLSSYSDPDS	HTSPSHTLGKASSSPSLSSYSDPDS	4.0	5.0	unscreened	-	3713_9:130507205-130507205 G>A_HTSPSHTLGKASSSPSLSSYSDPDS
2:166170523-166170523 G>A	0.0	3713	MELANOMA	-	-	-	-	SCN2A	ENST00000375437,p.E430K|ENST00000375427,p.E430K|uc002udc.3,p.E430K|ENST00000283256,p.E430K|uc002udd.3,p.E430K|NM_001040142,p.E430K|ENST00000424833,p.E430K|uc002ude.3,p.E430K|NM_021007,p.E430K|NM_001040143,p.E430K|ENST00000357398,p.E430K	retained_intron, protein_coding	uc002ude.3	nonsynonymous SNV	exon9	c.G1288A	p.E430K	NLILAVVAMAYEEQNQATLEEAEQK	NLILAVVAMAYEKQNQATLEEAEQK	1.0	4.0	unscreened	-	3713_2:166170523-166170523 G>A_NLILAVVAMAYEKQNQATLEEAEQK
10:69366633-69366633 C>T	0.0	3713	MELANOMA	-	-	-	-	CTNNA3	uc001jmx.4,p.E92K|ENST00000330298,p.E92K|NM_001127384,p.E92K|ENST00000433211,p.E92K|NM_001291133,p.E104K|ENST00000545309,p.E92K|uc001jmw.2,p.E92K|ENST00000373744,p.E92K|uc001jna.2,p.E104K|NM_013266,p.E92K|uc009xpn.1,p.E92K	protein_coding, processed_transcript, nonsense_mediated_decay	uc009xpn.1	nonsynonymous SNV	exon3	c.G274A	p.E92K	ATVLKDELTASLEEVRKESEALKVS	ATVLKDELTASLKEVRKESEALKVS	1.0	5.0	unscreened	-	3713_10:69366633-69366633 C>T_ATVLKDELTASLKEVRKESEALKVS
1:184764572-184764572 G>A	0.0	3713	MELANOMA	-	-	-	-	FAM129A	uc001gra.4,p.P776S|ENST00000367511,p.P776S|NM_052966,p.P776S	protein_coding, processed_transcript	uc001gra.4	nonsynonymous SNV	exon14	c.C2326T	p.P776S	EESEVSEREAQPPCPEAHGEELGGF	EESEVSEREAQPSCPEAHGEELGGF	4.0	4.0	unscreened	-	3713_1:184764572-184764572 G>A_EESEVSEREAQPSCPEAHGEELGGF
15:33955013-33955013 G>A	0.0	3713	MELANOMA	-	-	-	-	RYR3	NM_001243996,p.G1761E|NM_001036,p.G1761E|ENST00000415757,p.G1761E|ENST00000389232,p.G1761E|uc010bar.3,p.G1761E|uc001zhi.3,p.G1761E	retained_intron, protein_coding, processed_transcript	uc010bar.3	nonsynonymous SNV	exon35	c.G5282A	p.G1761E	LIDPSVFGEHSAGTEEGAEKEEVTQ	LIDPSVFGEHSAETEEGAEKEEVTQ	1.0	4.0	unscreened	-	3713_15:33955013-33955013 G>A_LIDPSVFGEHSAETEEGAEKEEVTQ
1:12195663-12195663 G>A	0.0	3713	MELANOMA	-	-	-	-	TNFRSF8	uc001atq.3,p.S443N|ENST00000263932,p.S443N|NM_001243,p.S443N	protein_coding, processed_transcript, nonsense_mediated_decay	uc001atq.3	nonsynonymous SNV	exon13	c.G1328A	p.S443N	PKLELVDSRPRRSSTQLRSGASVTE	PKLELVDSRPRRNSTQLRSGASVTE	2.0	6.0	unscreened	-	3713_1:12195663-12195663 G>A_PKLELVDSRPRRNSTQLRSGASVTE
2:113940136-113940136 G>A	0.0	3713	MELANOMA	-	-	-	-	PSD4	uc002tjc.3,p.E35K|NM_012455,p.E35K|ENST00000245796,p.E35K|ENST00000441564,p.E35K|uc002tje.3,p.E34K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tje.3	nonsynonymous SNV	exon2	c.G100A	p.E34K	DSLEPHPGECPRETCSHEDPPEPFE	DSLEPHPGECPRKTCSHEDPPEPFE	6.0	5.0	unscreened	-	3713_2:113940136-113940136 G>A_DSLEPHPGECPRKTCSHEDPPEPFE
7:7420308-7420308 C>T	0.0	3713	MELANOMA	-	-	-	-	COL28A1	uc003src.1,p.G769R|ENST00000399429,p.G769R|NM_001037763,p.G769R|uc011jxe.1,p.G452R	retained_intron, protein_coding, nonsense_mediated_decay	uc011jxe.1	nonsynonymous SNV	exon31	c.G1354A	p.G452R	GSPGKQGLQGPKGDLGLTKEEIIKL	GSPGKQGLQGPKRDLGLTKEEIIKL	2.0	5.0	unscreened	-	3713_7:7420308-7420308 C>T_GSPGKQGLQGPKRDLGLTKEEIIKL
7:7545679-7545679 C>T	0.0	3713	MELANOMA	-	-	-	-	COL28A1	NM_001037763,p.G331E|ENST00000399429,p.G331E|uc003src.1,p.G331E	retained_intron, protein_coding, nonsense_mediated_decay	uc003src.1	nonsynonymous SNV	exon11	c.G992A	p.G331E	GPRGIQGITGPPGDPGPKGFQGNKG	GPRGIQGITGPPEDPGPKGFQGNKG	2.0	5.0	unscreened	-	3713_7:7545679-7545679 C>T_GPRGIQGITGPPEDPGPKGFQGNKG
12:65269275-65269275 G>A	0.0	3713	MELANOMA	-	-	-	-	TBC1D30	uc001ssh.2,p.D551N|ENST00000539867,p.D665N|NM_015279,p.D665N|ENST00000542120,p.D551N|uc010sst.2,p.D665N|ENST00000229088,p.D828N	protein_coding, processed_transcript	uc010sst.2	nonsynonymous SNV	exon12	c.G1993A	p.D665N	QAKLGALELNQRDAAAETELRVHPP	QAKLGALELNQRNAAAETELRVHPP	1.0	6.0	unscreened	-	3713_12:65269275-65269275 G>A_QAKLGALELNQRNAAAETELRVHPP
3:45800495-45800495 C>T	0.0	3713	MELANOMA	-	-	-	-	SLC6A20	NM_020208,p.R585K|ENST00000353278,p.R548K|uc003cow.3,p.R235K|ENST00000358525,p.R585K|uc011bai.2,p.R585K|NM_022405,p.R548K|uc011baj.2,p.R548K	retained_intron, protein_coding, processed_transcript	uc011baj.2	nonsynonymous SNV	exon10	c.G1643A	p.R548K	AALGTFVQRRLKRGDADPVA	AALGTFVQRRLKKGDADPVA	1.0	7.0	unscreened	-	3713_3:45800495-45800495 C>T_AALGTFVQRRLKKGDADPVA
7:37936680-37936680 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1698582;OCCURENCE=1(skin)	-	NME8	NM_016616,p.P585S|ENST00000199447,p.P585S|ENST00000440017,p.P585S|uc003tfn.3,p.P585S	retained_intron, protein_coding, nonsense_mediated_decay	uc003tfn.3	nonsynonymous SNV	exon17	c.C1753T	p.P585S	EAKEVVNRLFEDPEEN	EAKEVVNRLFEDSEEN	1.0	3.0	unscreened	-	3713_7:37936680-37936680 C>T_EAKEVVNRLFEDSEEN
10:98064444-98064444 G>A	0.0	3713	MELANOMA	-	-	-	-	DNTT	NM_004088,p.E64K|ENST00000419175,p.E64K|uc001kmf.3,p.E64K|uc001kmg.3,p.E64K|NM_001017520,p.E64K|ENST00000371174,p.E64K	protein_coding	uc001kmg.3	nonsynonymous SNV	exon1	c.G190A	p.E64K	LMELARRKGFRVENELSDSVTHIVA	LMELARRKGFRVKNELSDSVTHIVA	1.0	6.0	unscreened	-	3713_10:98064444-98064444 G>A_LMELARRKGFRVKNELSDSVTHIVA
7:82585849-82585849 C>T	1.0	3713	MELANOMA	-	-	-	-	PCLO	ENST00000423517,p.E1474K|uc003uhv.2,p.E1474K|NM_014510,p.E1474K|ENST00000333891,p.E1474K|uc003uhx.2,p.E1474K|NM_033026,p.E1474K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon5	c.G4420A	p.E1474K	TISEEEIKESQEERKDTFKKDSQQD	TISEEEIKESQEKRKDTFKKDSQQD	2.0	6.0	unscreened	-	3713_7:82585849-82585849 C>T_TISEEEIKESQEKRKDTFKKDSQQD
2:213914602-213914602 C>T	1.0	3713	MELANOMA	-	-	-	-	IKZF2	uc010fuy.3,p.E111K|uc002vel.3,p.E58K|ENST00000421754,p.E111K|uc010fuv.3,p.E111K|uc002ven.3,p.E111K|ENST00000451136,p.E111K|ENST00000374319,p.E111K|NM_001079526,p.E111K	retained_intron, protein_coding, nonsense_mediated_decay	uc010fuy.3	nonsynonymous SNV	exon4	c.G331A	p.E111K	LQGEGGIRLPNGERPFHCNQCGASF	LQGEGGIRLPNGKRPFHCNQCGASF	3.0	4.0	unscreened	-	3713_2:213914602-213914602 C>T_LQGEGGIRLPNGKRPFHCNQCGASF
13:22275329-22275329 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1686195;OCCURENCE=2(skin)	-	FGF9	uc001uog.2,p.E128K|ENST00000382353,p.E128K|NM_002010,p.E128K	protein_coding, processed_transcript	uc001uog.2	nonsynonymous SNV	exon3	c.G382A	p.E128K	LGMNEKGELYGSEKLTQECVFREQF	LGMNEKGELYGSKKLTQECVFREQF	1.0	6.0	unscreened	-	3713_13:22275329-22275329 G>A_LGMNEKGELYGSKKLTQECVFREQF
19:8959682-8959682 C>T	0.0	3713	MELANOMA	-	-	ID=COSM224751;OCCURENCE=1(skin)	2	MUC16	uc002mkp.3,p.E14484K|NM_024690,p.E14484K|uc010dwj.3,p.E1284K|ENST00000380951,p.E1125K|ENST00000397910,p.E14484K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dwj.3	nonsynonymous SNV	exon40	c.G3850A	p.E1284K	CGVLVTTRRRKKEGEYNVQQQCPGY	CGVLVTTRRRKKKGEYNVQQQCPGY	1.0	4.0	unscreened	-	3713_19:8959682-8959682 C>T_CGVLVTTRRRKKKGEYNVQQQCPGY
2:26410836-26410836 G>A	0.0	3713	MELANOMA	-	-	-	-	GAREML	ENST00000407684,p.E569K|NM_001191033,p.E569K|ENST00000401533,p.E779K|uc002rgx.2,p.E569K|NM_001168241,p.E779K|uc002rgw.2,p.E779K	protein_coding, processed_transcript	uc002rgx.2	nonsynonymous SNV	exon6	c.G1705A	p.E569K	AGGALFLTQGRLEGPPASPRDGATG	AGGALFLTQGRLKGPPASPRDGATG	2.0	5.0	unscreened	-	3713_2:26410836-26410836 G>A_AGGALFLTQGRLKGPPASPRDGATG
1:201352246-201352246 C>T	0.0	3713	MELANOMA	-	-	-	-	LAD1	NM_005558,p.E448K|ENST00000367313,p.E462K|ENST00000503578,p.E99K|uc001gwm.3,p.E448K|ENST00000391967,p.E448K	protein_coding, processed_transcript	uc001gwm.3	nonsynonymous SNV	exon7	c.G1342A	p.E448K	VGVASKRHLFEKELAGQSRAEPASS	VGVASKRHLFEKKLAGQSRAEPASS	2.0	5.0	unscreened	-	3713_1:201352246-201352246 C>T_VGVASKRHLFEKKLAGQSRAEPASS
12:53242654-53242654 G>A	0.0	3713	MELANOMA	-	-	-	-	KRT78	ENST00000304620,p.R21C|uc001sbc.1,p.R21C|NM_173352,p.R21C	retained_intron, protein_coding	uc001sbc.1	nonsynonymous SNV	exon1	c.C61T	p.R21C	QRGFSARSACSARSRGRSRGGFSSR	QRGFSARSACSACSRGRSRGGFSSR	1.0	7.0	unscreened	-	3713_12:53242654-53242654 G>A_QRGFSARSACSACSRGRSRGGFSSR
10:105891193-105891193 C>T	0.0	3713	MELANOMA	-	-	-	-	CFAP43	uc001kxw.3,p.G1576E|NM_025145,p.G1576E|uc009xxq.3,p.G855E|ENST00000428666,p.G1548E|ENST00000357060,p.G1576E	protein_coding, processed_transcript	uc009xxq.3	nonsynonymous SNV	exon22	c.G2564A	p.G855E	NVENCKKLLKKLGKFSNQKDIANYA	NVENCKKLLKKLEKFSNQKDIANYA	1.0	6.0	unscreened	-	3713_10:105891193-105891193 C>T_NVENCKKLLKKLEKFSNQKDIANYA
5:138729522-138729522 G>A	0.0	3713	MELANOMA	-	-	-	-	PROB1	NM_001161546,p.P417S|ENST00000434752,p.P417S|uc011czc.1,p.P417S	protein_coding	uc011czc.1	nonsynonymous SNV	exon1	c.C1249T	p.P417S	RGPRCPSPQNLSPWDRTTRRVSSPL	RGPRCPSPQNLSSWDRTTRRVSSPL	2.0	6.0	unscreened	-	3713_5:138729522-138729522 G>A_RGPRCPSPQNLSSWDRTTRRVSSPL
2:219900232-219900232 C>T	0.0	3713	MELANOMA	-	-	-	-	CCDC108	ENST00000457968,p.R160Q|NM_001278296,p.R106Q|uc002vjl.2,p.R171Q|uc010zkq.2,p.R106Q|ENST00000410037,p.R106Q|NM_194302,p.R171Q|ENST00000409865,p.R160Q|ENST00000441968,p.R171Q|ENST00000341552,p.R171Q|ENST00000453220,p.R171Q|uc010zkp.2,p.R160Q|NM_001278295,p.R160Q	retained_intron, protein_coding	uc010zkq.2	nonsynonymous SNV	exon4	c.G317A	p.R106Q	GKETTRNLVLKNRSLKLQKMKYRPP	GKETTRNLVLKNQSLKLQKMKYRPP	1.0	5.0	unscreened	-	3713_2:219900232-219900232 C>T_GKETTRNLVLKNQSLKLQKMKYRPP
13:103390097-103390097 C>T	0.0	3713	MELANOMA	-	-	-	-	CCDC168	NM_001146197,p.G4317E|uc001vpm.3,p.G4317E	protein_coding	uc001vpm.3	nonsynonymous SNV	exon4	c.G12950A	p.G4317E	HQKSSETGKKANGVPSEGDSASEVQ	HQKSSETGKKANEVPSEGDSASEVQ	1.0	6.0	unscreened	-	3713_13:103390097-103390097 C>T_HQKSSETGKKANEVPSEGDSASEVQ
1:209799350-209799350 C>T	1.0	3713	MELANOMA	-	-	-	-	LAMB3	uc001hhh.3,p.G540E|ENST00000367030,p.G540E|NM_001017402,p.G540E|ENST00000391911,p.G540E|NM_000228,p.G540E|NM_001127641,p.G540E|ENST00000356082,p.G540E|uc009xco.3,p.G540E|uc001hhg.3,p.G540E	protein_coding	uc009xco.3	nonsynonymous SNV	exon14	c.G1619A	p.G540E	ATGCRACDCDFRGTEGPGCDKASGR	ATGCRACDCDFRETEGPGCDKASGR	1.0	4.0	-	-	3713_1:209799350-209799350 C>T_ATGCRACDCDFRETEGPGCDKASGR
17:39346605-39346605 C>T	0.0	3713	MELANOMA	-	-	-	-	KRTAP9-1	NM_001190460,p.S156F|uc021txf.1,p.S156F|ENST00000398470,p.S156F	protein_coding	uc021txf.1	nonsynonymous SNV	exon1	c.C467T	p.S156F	CRNTSCQPTCCGSSCCQPCCHPTCC	CRNTSCQPTCCGFSCCQPCCHPTCC	1.0	7.0	unscreened	-	3713_17:39346605-39346605 C>T_CRNTSCQPTCCGFSCCQPCCHPTCC
17:39346605-39346605 C>T	0.0	3713	MELANOMA	-	-	-	-	KRTAP9-1	ENST00000318329,p.S73F	protein_coding	ENST00000318329	nonsynonymous SNV	exon2	c.C218T	p.S73F	CRNTSCQPTCCGSSCCQPPCCRPTC	CRNTSCQPTCCGFSCCQPPCCRPTC	1.0	7.0	unscreened	-	3713_17:39346605-39346605 C>T_CRNTSCQPTCCGFSCCQPPCCRPTC
7:44192990-44192990 C>T	0.0	3713	MELANOMA	-	-	-	-	GCK	NM_033507,p.E41K|ENST00000395796,p.E39K|ENST00000345378,p.E41K|ENST00000403799,p.E40K|ENST00000437084,p.E40K|NM_000162,p.E40K|uc003tkl.2,p.E40K|uc003tkj.1,p.E39K|uc003tkk.1,p.E41K|NM_033508,p.E39K	retained_intron, protein_coding, processed_transcript	uc003tkl.2	nonsynonymous SNV	exon2	c.G118A	p.E40K	EDLKKVMRRMQKEMDRGLRLETHEE	EDLKKVMRRMQKKMDRGLRLETHEE	1.0	6.0	unscreened	-	3713_7:44192990-44192990 C>T_EDLKKVMRRMQKKMDRGLRLETHEE
6:70894805-70894805 C>T	0.0	3713	MELANOMA	-	-	-	-	COL19A1	ENST00000322773,p.R952C|uc003pfc.1,p.R952C|NM_001858,p.R952C|ENST00000393344,p.R574C	protein_coding, processed_transcript	uc003pfc.1	nonsynonymous SNV	exon46	c.C2854T	p.R952C	MGKPGDRGPKGERGDQGIPGDRGSQ	MGKPGDRGPKGECGDQGIPGDRGSQ	1.0	7.0	unscreened	-	3713_6:70894805-70894805 C>T_MGKPGDRGPKGECGDQGIPGDRGSQ
7:48506557-48506557 G>A	0.0	3713	MELANOMA	-	-	-	-	ABCA13	uc031sxh.1,p.G1956R|uc010kys.2,p.G1956R|uc031sxg.1,p.G1956R	retained_intron, protein_coding, nonsense_mediated_decay	uc031sxh.1	nonsynonymous SNV	exon27	c.G5866A	p.G1956R	YQRAETYFFSSSGGDNLDLTRVLLR	YQRAETYFFSSSRGDNLDLTRVLLR	1.0	5.0	unscreened	-	3713_7:48506557-48506557 G>A_YQRAETYFFSSSRGDNLDLTRVLLR
2:103324860-103324860 G>A	0.0	3713	MELANOMA	-	-	-	-	SLC9A2	ENST00000233969,p.G784D|NM_003048,p.G784D|uc002tca.3,p.G784D	retained_intron, protein_coding, processed_transcript	uc002tca.3	nonsynonymous SNV	exon12	c.G2351A	p.G784D	QSGSEREDSLTEGIPPKPPPRLVWR	QSGSEREDSLTEDIPPKPPPRLVWR	1.0	4.0	unscreened	-	3713_2:103324860-103324860 G>A_QSGSEREDSLTEDIPPKPPPRLVWR
13:103390098-103390098 C>T	0.0	3713	MELANOMA	-	-	-	-	CCDC168	NM_001146197,p.G4317R|uc001vpm.3,p.G4317R	protein_coding	uc001vpm.3	nonsynonymous SNV	exon4	c.G12949A	p.G4317R	HQKSSETGKKANGVPSEGDSASEVQ	HQKSSETGKKANRVPSEGDSASEVQ	1.0	5.0	unscreened	-	3713_13:103390098-103390098 C>T_HQKSSETGKKANRVPSEGDSASEVQ
2:98996810-98996810 G>A	0.0	3713	MELANOMA	-	-	-	-	CNGA3	uc002syu.3,p.G130R|NM_001079878,p.G130R|ENST00000436404,p.G130R	retained_intron, protein_coding	uc002syu.3	nonsynonymous SNV	exon4	c.G388A	p.G130R	QANVGSQEPADRGRRKKTKKKDAIV	QANVGSQEPADRRRRKKTKKKDAIV	1.0	6.0	unscreened	-	3713_2:98996810-98996810 G>A_QANVGSQEPADRRRRKKTKKKDAIV
1:12195663-12195663 G>A	0.0	3713	MELANOMA	-	-	-	-	TNFRSF8	ENST00000417814,p.S332N|uc010obc.2,p.S332N|NM_001281430,p.S332N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010obc.2	nonsynonymous SNV	exon12	c.G995A	p.S332N	PKLELVDSRPRRSSTLRSGASVTEP	PKLELVDSRPRRNSTLRSGASVTEP	2.0	6.0	unscreened	-	3713_1:12195663-12195663 G>A_PKLELVDSRPRRNSTLRSGASVTEP
22:29886042-29886042 G>A	0.0	3713	MELANOMA	-	-	-	-	NEFH	ENST00000310624,p.E805K|uc003afo.3,p.E805K|NM_021076,p.E805K	protein_coding	uc003afo.3	nonsynonymous SNV	exon4	c.G2413A	p.E805K	VKSPEKAKSPLKEDAKAPEKEIPKK	VKSPEKAKSPLKKDAKAPEKEIPKK	1.0	7.0	unscreened	-	3713_22:29886042-29886042 G>A_VKSPEKAKSPLKKDAKAPEKEIPKK
3:52256957-52256957 C>T	0.0	3713	MELANOMA	-	-	-	-	TLR9	ENST00000360658,p.D459N|ENST00000597542,p.D483N|uc003dda.2,p.D459N|NM_017442,p.D459N|uc003ddb.3,p.D556N	protein_coding	uc003ddb.3	nonsynonymous SNV	exon5	c.G1666A	p.D556N	WLQPGDLAPAPVDTPSSEDFRPNCS	WLQPGDLAPAPVNTPSSEDFRPNCS	2.0	6.0	-	-	3713_3:52256957-52256957 C>T_WLQPGDLAPAPVNTPSSEDFRPNCS
1:75055687-75055687 C>T	0.0	3713	MELANOMA	-	-	-	-	ERICH3	uc001dgg.3,p.D602N|NM_001002912,p.D602N|ENST00000326665,p.D602N|uc001dgi.4,p.D396N|ENST00000420661,p.D405N	protein_coding, processed_transcript	uc001dgi.4	nonsynonymous SNV	exon7	c.G1186A	p.D396N	YSSDSEDESAVGDREAHTDSSTDES	YSSDSEDESAVGNREAHTDSSTDES	1.0	7.0	unscreened	-	3713_1:75055687-75055687 C>T_YSSDSEDESAVGNREAHTDSSTDES
10:106124603-106124603 G>A	0.0	3713	MELANOMA	-	-	ID=COSM222191;OCCURENCE=1(skin)	-	CFAP58	NM_001008723,p.E185K|ENST00000369704,p.E185K|uc001kyh.3,p.E185K	protein_coding	uc001kyh.3	nonsynonymous SNV	exon4	c.G553A	p.E185K	RESLAQTTEQQQETERSKEEAEHAI	RESLAQTTEQQQKTERSKEEAEHAI	1.0	7.0	unscreened	-	3713_10:106124603-106124603 G>A_RESLAQTTEQQQKTERSKEEAEHAI
2:179641508-179641508 A>T	0.0	3713	MELANOMA	-	-	-	-	TTN	NM_133379,p.Y1695N|ENST00000342992,p.Y1695N|ENST00000359218,p.Y1649N|NM_003319,p.Y1649N|uc002unb.3,p.Y1695N|ENST00000460472,p.Y1649N|NM_133432,p.Y1649N|ENST00000360870,p.Y1695N|NM_133437,p.Y1649N|uc021vsz.2,p.Y1649N|NM_133378,p.Y1695N|NM_001267550,p.Y1695N|uc021vta.2,p.Y1649N|uc031rqc.1,p.Y1695N|uc021vsy.2,p.Y1695N|uc031rqd.1,p.Y1695N|ENST00000589042,p.Y1695N|NM_001256850,p.Y1695N|uc021vtb.2,p.Y1649N|ENST00000591111,p.Y1695N|ENST00000342175,p.Y1649N	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon28	c.T5083A	p.Y1695N	RYGQEQWEEGDLYDKEKQQKPFFKK	RYGQEQWEEGDLNDKEKQQKPFFKK	1.0	7.0	unscreened	-	3713_2:179641508-179641508 A>T_RYGQEQWEEGDLNDKEKQQKPFFKK
20:57768508-57768508 G>A	0.0	3713	MELANOMA	-	-	-	-	ZNF831	uc002yan.3,p.G812S|NM_178457,p.G812S|ENST00000371030,p.G812S	protein_coding	uc002yan.3	nonsynonymous SNV	exon1	c.G2434A	p.G812S	LWAQTVLRWPSRGSGEDKLPSERKK	LWAQTVLRWPSRSSGEDKLPSERKK	3.0	7.0	unscreened	-	3713_20:57768508-57768508 G>A_LWAQTVLRWPSRSSGEDKLPSERKK
5:159776782-159776782 G>A	0.0	3713	MELANOMA	-	-	-	-	C1QTNF2	uc003lyd.3,p.P129L|ENST00000393975,p.P129L|NM_031908,p.P129L	protein_coding	uc003lyd.3	nonsynonymous SNV	exon3	c.C386T	p.P129L	DGDRGDSGEEGPPGRTGNRGKPGPK	DGDRGDSGEEGPLGRTGNRGKPGPK	1.0	6.0	unscreened	-	3713_5:159776782-159776782 G>A_DGDRGDSGEEGPLGRTGNRGKPGPK
19:38378806-38378806 T>A	0.0	3713	MELANOMA	-	-	-	-	WDR87	uc002ohj.2,p.E1835D|NM_031951,p.E1796D|ENST00000447313,p.E1835D|NM_001291088,p.E1835D|ENST00000303868,p.E1796D|uc010efu.2,p.E1796D	retained_intron, protein_coding	uc010efu.2	nonsynonymous SNV	exon6	c.A5388T	p.E1796D	LAQHKEKMPEEEERLGRKREQLIEK	LAQHKEKMPEEEDRLGRKREQLIEK	1.0	5.0	unscreened	-	3713_19:38378806-38378806 T>A_LAQHKEKMPEEEDRLGRKREQLIEK
10:61926352-61926352 C>T	0.0	3713	MELANOMA	-	-	-	-	ANK3	uc001jky.3,p.E871K|uc001jkx.3,p.E49K|ENST00000373827,p.E865K|uc001jkz.4,p.E865K|NM_020987,p.E871K|NM_001204403,p.E865K|ENST00000280772,p.E871K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jkz.4	nonsynonymous SNV	exon24	c.G2593A	p.E865K	MLSDGEYISDVEEGEDAMTGDTDKY	MLSDGEYISDVEKGEDAMTGDTDKY	4.0	6.0	unscreened	-	3713_10:61926352-61926352 C>T_MLSDGEYISDVEKGEDAMTGDTDKY
6:75899005-75899005 C>T	1.0	3713	MELANOMA	-	-	-	-	COL12A1	uc021zbv.1,p.G251R|ENST00000416123,p.G251R|ENST00000322507,p.G251R|uc003phs.3,p.G251R|NM_004370,p.G251R|ENST00000483888,p.G251R	retained_intron, protein_coding, processed_transcript	uc021zbv.1	nonsynonymous SNV	exon6	c.G751A	p.G251R	VGFPKVAIIITDGKSQDEVEIPARE	VGFPKVAIIITDRKSQDEVEIPARE	7.0	5.0	unscreened	-	3713_6:75899005-75899005 C>T_VGFPKVAIIITDRKSQDEVEIPARE
2:55189686-55189686 G>A	0.0	3713	MELANOMA	-	-	-	-	EML6	ENST00000356458,p.G1666R|NM_001039753,p.G1666R|uc002ryb.4,p.G1666R	retained_intron, protein_coding, processed_transcript	uc002ryb.4	nonsynonymous SNV	exon35	c.G4996A	p.G1666R	RGKGKILVGTKDGEIIEVGEKNAAS	RGKGKILVGTKDREIIEVGEKNAAS	1.0	5.0	unscreened	-	3713_2:55189686-55189686 G>A_RGKGKILVGTKDREIIEVGEKNAAS
1:202097646-202097646 G>A	0.0	3713	MELANOMA	-	-	-	-	GPR37L1	uc001gxj.3,p.E470K|NM_004767,p.E470K|ENST00000367282,p.E470K	protein_coding	uc001gxj.3	nonsynonymous SNV	exon2	c.G1408A	p.E470K	EVSSSIYFHKPRESPPLLPLGTPC	EVSSSIYFHKPRKSPPLLPLGTPC	1.0	4.0	unscreened	-	3713_1:202097646-202097646 G>A_EVSSSIYFHKPRKSPPLLPLGTPC
6:33132055-33132055 C>T	1.0	3713	MELANOMA	-	-	-	-	COL11A2	ENST00000374708,p.D1601N|NM_080679,p.D1580N|ENST00000361917,p.D1580N|uc003ocz.1,p.D1580N|ENST00000395197,p.D1627N|ENST00000341947,p.D1687N|uc010jul.1,p.D257N|NM_080680,p.D1687N|uc003ocy.1,p.D1601N|ENST00000374714,p.D1661N|uc003ocx.1,p.D1687N|ENST00000357486,p.D1666N|ENST00000374713,p.D1640N|ENST00000374712,p.D1606N|NM_080681,p.D1601N	protein_coding, processed_transcript	uc010jul.1	nonsynonymous SNV	exon8	c.G769A	p.D257N	SPETSPYVKEFRDGCQTQQGRTVLE	SPETSPYVKEFRNGCQTQQGRTVLE	2.0	6.0	unscreened	-	3713_6:33132055-33132055 C>T_SPETSPYVKEFRNGCQTQQGRTVLE
5:121487708-121487708 G>A	1.0	3713	MELANOMA	-	-	-	-	ZNF474	ENST00000505843,p.R8K|NM_207317,p.R8K|uc003ksv.3,p.R8K|ENST00000296600,p.R8K|ENST00000504912,p.R8K|uc021ycy.1,p.R8K	protein_coding, processed_transcript	uc021ycy.1	nonsynonymous SNV	exon1	c.G23A	p.R8K	MERGKKKRISNKLQQTFHHS	MERGKKKKISNKLQQTFHHS	1.0	7.0	unscreened	-	3713_5:121487708-121487708 G>A_MERGKKKKISNKLQQTFHHS
1:169586308-169586308 C>T	0.0	3713	MELANOMA	-	-	-	-	SELP	uc009wvr.3,p.D147N|ENST00000426706,p.D146N|ENST00000367792,p.D147N|uc001ggi.4,p.D147N|ENST00000263686,p.D147N|ENST00000367795,p.D147N|ENST00000367791,p.D147N|ENST00000367794,p.D147N|ENST00000367786,p.D147N|ENST00000367793,p.D147N|ENST00000367788,p.D147N|NM_003005,p.D147N|ENST00000458599,p.D147N	protein_coding, processed_transcript	uc009wvr.3	nonsynonymous SNV	exon3	c.G439A	p.D147N	YIKSPSAPGKWNDEHCLKKKHALCY	YIKSPSAPGKWNNEHCLKKKHALCY	1.0	4.0	unscreened	-	3713_1:169586308-169586308 C>T_YIKSPSAPGKWNNEHCLKKKHALCY
17:45419330-45419330 G>A	0.0	3713	MELANOMA	-	-	-	-	EFCAB13	NM_152347,p.D79N|ENST00000517484,p.D79N|ENST00000331493,p.D79N|uc010daz.1,p.D79N|NM_001195192,p.D79N|uc002iln.3,p.D79N|uc002ilm.3,p.D79N	retained_intron, protein_coding, processed_transcript	uc010daz.1	nonsynonymous SNV	exon4	c.G235A	p.D79N	TSIIFCGEEKSSDFSGEKKVGRKSL	TSIIFCGEEKSSNFSGEKKVGRKSL	1.0	7.0	unscreened	-	3713_17:45419330-45419330 G>A_TSIIFCGEEKSSNFSGEKKVGRKSL
12:52841704-52841704 C>T	0.0	3713	MELANOMA	-	-	-	-	KRT6B	ENST00000252252,p.E428K|uc001sak.3,p.E428K|NM_005555,p.E428K	protein_coding	uc001sak.3	nonsynonymous SNV	exon7	c.G1282A	p.E428K	GEMALKDAKNKLEGLEDALQKAKQD	GEMALKDAKNKLKGLEDALQKAKQD	1.0	5.0	unscreened	-	3713_12:52841704-52841704 C>T_GEMALKDAKNKLKGLEDALQKAKQD
5:35709163-35709163 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1720534;OCCURENCE=2(NS)	-	SPEF2	ENST00000509059,p.E922K|ENST00000440995,p.E922K|uc003jjp.1,p.E413K|uc003jjo.3,p.E927K|uc003jjq.4,p.E922K|ENST00000356031,p.E927K|NM_024867,p.E927K	retained_intron, protein_coding, nonsense_mediated_decay	uc003jjq.4	nonsynonymous SNV	exon19	c.G2764A	p.E922K	PPAPPPEPEKEKEIHQSHVASKTPT	PPAPPPEPEKEKKIHQSHVASKTPT	1.0	4.0	unscreened	-	3713_5:35709163-35709163 G>A_PPAPPPEPEKEKKIHQSHVASKTPT
10:25701203-25701203 C>T	0.0	3713	MELANOMA	-	-	-	-	GPR158	ENST00000376351,p.S379L|NM_020752,p.S379L|uc001isj.3,p.S379L	protein_coding, processed_transcript	uc001isj.3	nonsynonymous SNV	exon4	c.C1136T	p.S379L	NNFRRRGPDQHISGSTKDVSEEAYV	NNFRRRGPDQHILGSTKDVSEEAYV	1.0	6.0	unscreened	-	3713_10:25701203-25701203 C>T_NNFRRRGPDQHILGSTKDVSEEAYV
12:2622120-2622120 G>A	0.0	3713	MELANOMA	-	-	-	-	CACNA1C	NM_001129841,p.E454K|ENST00000347598,p.E454K|uc001qki.1,p.E190K|NM_001129840,p.E454K|NM_001129846,p.E454K|NM_001129835,p.E454K|NM_001129833,p.E454K|uc001qkt.2,p.E454K|uc001qkp.2,p.E454K|uc001qko.2,p.E454K|uc001qkm.2,p.E454K|uc009zdy.1,p.E79K|uc001qkf.2,p.E454K|ENST00000399621,p.E454K|ENST00000399638,p.E454K|NM_001129838,p.E454K|ENST00000399595,p.E454K|uc001qkk.2,p.E454K|ENST00000399606,p.E454K|uc001qku.2,p.E454K|NM_001129839,p.E454K|NM_001129843,p.E454K|ENST00000399629,p.E454K|ENST00000399637,p.E454K|uc001qkg.2,p.E454K|uc001qkc.2,p.E454K|NM_001129836,p.E454K|NM_001129831,p.E454K|ENST00000399603,p.E454K|ENST00000399591,p.E454K|NM_000719,p.E454K|ENST00000399601,p.E454K|NM_001129837,p.E454K|uc009zdw.1,p.E454K|NM_001129842,p.E454K|ENST00000399617,p.E454K|ENST00000399634,p.E454K|NM_001129834,p.E454K|ENST00000327702,p.E454K|NM_001167625,p.E454K|uc001qkn.2,p.E454K|uc001qkb.2,p.E454K|ENST00000399597,p.E454K|uc009zdv.1,p.E451K|ENST00000399649,p.E454K|uc001qkl.2,p.E454K|ENST00000480911,p.E454K|NM_001129830,p.E454K|ENST00000399644,p.E454K|uc001qkd.2,p.E454K|uc001qks.2,p.E454K|uc009zdu.1,p.E454K|uc001qjz.2,p.E454K|NM_199460,p.E454K|NM_001129827,p.E454K|ENST00000402845,p.E454K|uc001qkr.2,p.E454K|uc001qkj.2,p.E454K|uc001qkh.2,p.E454K|NM_001129829,p.E454K|ENST00000406454,p.E454K|uc001qkq.2,p.E454K|NM_001167623,p.E454K|NM_001129844,p.E451K|ENST00000344100,p.E454K|ENST00000399655,p.E454K|uc001qke.2,p.E454K|ENST00000399641,p.E454K|NM_001129832,p.E454K|NM_001167624,p.E454K	retained_intron, protein_coding, processed_transcript	uc009zdy.1	nonsynonymous SNV	exon2	c.G235A	p.E79K	TQAEDIDPENEDEGMDEEKPRNMSM	TQAEDIDPENEDKGMDEEKPRNMSM	2.0	6.0	unscreened	-	3713_12:2622120-2622120 G>A_TQAEDIDPENEDKGMDEEKPRNMSM
2:219900232-219900232 C>T	0.0	3713	MELANOMA	-	-	-	-	CCDC108	ENST00000324264,p.R106Q|NM_152389,p.R106Q|ENST00000295729,p.R106Q|uc002vjn.4,p.R106Q	retained_intron, protein_coding	uc002vjn.4	nonsynonymous SNV	exon4	c.G317A	p.R106Q	GKETTRNLVLKNRSLKLQKMKYRYQ	GKETTRNLVLKNQSLKLQKMKYRYQ	1.0	5.0	unscreened	-	3713_2:219900232-219900232 C>T_GKETTRNLVLKNQSLKLQKMKYRYQ
16:16276274-16276274 C>T	0.0	3713	MELANOMA	-	-	-	-	ABCC6	ENST00000205557,p.E748K|NM_001171,p.E748K|uc002den.4,p.E748K|ENST00000456970,p.E748K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002den.4	nonsynonymous SNV	exon17	c.G2242A	p.E748K	DSFPEGIHTSIGEQGMNLSGGQKQR	DSFPEGIHTSIGKQGMNLSGGQKQR	1.0	7.0	unscreened	-	3713_16:16276274-16276274 C>T_DSFPEGIHTSIGKQGMNLSGGQKQR
11:92258027-92258027 G>A	0.0	3713	MELANOMA	-	-	-	2	FAT3	ENST00000541502,p.D1174N|ENST00000298047,p.D1174N|uc001pdj.4,p.D1174N|NM_001008781,p.D1174N|ENST00000409404,p.D1174N|ENST00000525166,p.D1024N	retained_intron, protein_coding, processed_transcript	uc001pdj.4	nonsynonymous SNV	exon2	c.G3520A	p.D1174N	PKDVSVIQIQAEDPDSSSNEKLTYR	PKDVSVIQIQAENPDSSSNEKLTYR	1.0	7.0	unscreened	-	3713_11:92258027-92258027 G>A_PKDVSVIQIQAENPDSSSNEKLTYR
5:110820078-110820078 G>A	1.0	3713	MELANOMA	-	-	-	-	CAMK4	uc010jbv.3,p.E249K|uc003kpg.3,p.E137K|NM_001744,p.E446K|ENST00000512453,p.E446K|ENST00000282356,p.E446K|uc003kpf.3,p.E446K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jbv.3	nonsynonymous SNV	exon9	c.G745A	p.E249K	EGLAEEKLKTVEEAAAPREGQGSSA	EGLAEEKLKTVEKAAAPREGQGSSA	3.0	5.0	unscreened	-	3713_5:110820078-110820078 G>A_EGLAEEKLKTVEKAAAPREGQGSSA
1:247876054-247876054 C>T	0.0	3713	MELANOMA	-	-	-	-	OR6F1	uc001idj.1,p.D2N|ENST00000302084,p.D2N|NM_001005286,p.D2N	protein_coding	uc001idj.1	nonsynonymous SNV	exon1	c.G4A	p.D2N	MDTGNKTLPQDFLL	MNTGNKTLPQDFLL	1.0	4.0	unscreened	-	3713_1:247876054-247876054 C>T_MNTGNKTLPQDFLL
X:77912719-77912719 G>A	1.0	3713	MELANOMA	-	-	-	-	ZCCHC5	NM_152694,p.P400L|uc022bzi.1,p.P400L|uc004edc.1,p.P400L|ENST00000321110,p.P400L	protein_coding	uc022bzi.1	nonsynonymous SNV	exon1	c.C1199T	p.P400L	QCISLEEKPDPNPLGKSSSAEGDGP	QCISLEEKPDPNLLGKSSSAEGDGP	1.0	5.0	-	-	3713_X:77912719-77912719 G>A_QCISLEEKPDPNLLGKSSSAEGDGP
2:179489312-179489312 C>T	0.0	3713	MELANOMA	-	-	-	-	TTN	NM_133437,p.E6026K|NM_133378,p.E12331K|ENST00000589042,p.E14899K|uc021vta.2,p.E5959K|NM_003319,p.E5834K|ENST00000342175,p.E6026K|NM_001256850,p.E13258K|uc021vsz.2,p.E6026K|NM_133432,p.E5959K|uc021vtb.2,p.E5834K|NM_001267550,p.E14899K|ENST00000342992,p.E12331K|ENST00000591111,p.E13258K|uc031rqc.1,p.E14899K|ENST00000460472,p.E5834K|uc031rqd.1,p.E13258K|uc021vsy.2,p.E12331K|ENST00000359218,p.E5959K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon192	c.G39772A	p.E13258K	KNGTEILKSKKYEIVADGRVRKLVI	KNGTEILKSKKYKIVADGRVRKLVI	1.0	5.0	unscreened	-	3713_2:179489312-179489312 C>T_KNGTEILKSKKYKIVADGRVRKLVI
19:22497081-22497081 G>A	0.0	3713	MELANOMA	-	-	-	-	ZNF729	ENST00000357491,p.G288R|NM_001242680,p.G288R|uc021urs.1,p.G288R|ENST00000601693,p.G288R	protein_coding	uc021urs.1	nonsynonymous SNV	exon4	c.G862A	p.G288R	SSNLTDHKRIHTGEKTYKCEECGKA	SSNLTDHKRIHTREKTYKCEECGKA	1.0	4.0	unscreened	-	3713_19:22497081-22497081 G>A_SSNLTDHKRIHTREKTYKCEECGKA
9:104192063-104192063 C>T	0.0	3713	MELANOMA	-	-	-	-	ALDOB	NM_000035,p.E100K|ENST00000374855,p.E100K|uc004bbk.2,p.E100K	protein_coding, processed_transcript	uc004bbk.2	nonsynonymous SNV	exon3	c.G298A	p.E100K	DSQGKLFRNILKEKGIVVGIKLDQG	DSQGKLFRNILKKKGIVVGIKLDQG	1.0	5.0	unscreened	-	3713_9:104192063-104192063 C>T_DSQGKLFRNILKKKGIVVGIKLDQG
3:121341855-121341855 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1036950;OCCURENCE=1(endometrium)	-	FBXO40	NM_016298,p.P527S|ENST00000338040,p.P527S|uc003eeg.2,p.P527S	protein_coding	uc003eeg.2	nonsynonymous SNV	exon3	c.C1579T	p.P527S	YLGCTFVQNHFRPPGQKAKVIYSQE	YLGCTFVQNHFRSPGQKAKVIYSQE	1.0	4.0	unscreened	-	3713_3:121341855-121341855 C>T_YLGCTFVQNHFRSPGQKAKVIYSQE
13:46287777-46287777 C>T	0.0	3713	MELANOMA	-	-	-	-	SPERT	uc001vao.2,p.S170L|ENST00000310521,p.S206L|NM_001286342,p.S170L|NM_001286341,p.S179L|NM_152719,p.S206L|ENST00000378966,p.S170L|uc001van.1,p.S206L	protein_coding	uc001vao.2	nonsynonymous SNV	exon2	c.C509T	p.S170L	KILQVFWEEHKASLGREESRAPSPL	KILQVFWEEHKALLGREESRAPSPL	1.0	5.0	unscreened	-	3713_13:46287777-46287777 C>T_KILQVFWEEHKALLGREESRAPSPL
4:16504321-16504321 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1178491;OCCURENCE=1(prostate)	-	LDB2	uc011bxh.2,p.P328L|NM_001290,p.P356L|uc003gpb.3,p.P354L|ENST00000304523,p.P356L|uc003goz.3,p.P356L|ENST00000515064,p.P354L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bxh.2	nonsynonymous SNV	exon7	c.C983T	p.P328L	PALGNNSPWNSKPPATQETKSENPP	PALGNNSPWNSKLPATQETKSENPP	3.0	5.0	unscreened	-	3713_4:16504321-16504321 G>A_PALGNNSPWNSKLPATQETKSENPP
5:13885246-13885246 C>A	0.0	3713	MELANOMA	-	-	-	-	DNAH5	ENST00000265104,p.K945N|NM_001369,p.K945N|uc003jfd.2,p.K945N	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon19	c.G2835T	p.K945N	ANALLLTTVTRKKKETEMLGEEARE	ANALLLTTVTRKNKETEMLGEEARE	1.0	4.0	unscreened	-	3713_5:13885246-13885246 C>A_ANALLLTTVTRKNKETEMLGEEARE
10:61022233-61022233 C>A	0.0	3713	MELANOMA	-	-	-	-	FAM13C	uc010qid.2,p.K316N|uc010qif.1,p.K421N|ENST00000422313,p.K399N|ENST00000373868,p.K399N|NM_001166698,p.K316N|NM_198215,p.K399N|uc001jkn.3,p.K399N|ENST00000373867,p.K316N|ENST00000277705,p.K420N|uc010qie.2,p.K316N|ENST00000442566,p.K420N|ENST00000435852,p.K399N|NM_001143773,p.K316N|ENST00000468840,p.K316N|uc001jkp.3,p.K316N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qif.1	nonsynonymous SNV	exon10	c.G1263T	p.K421N	GEETPDAALTCLKERREQLPPQEDS	GEETPDAALTCLNERREQLPPQEDS	3.0	6.0	unscreened	-	3713_10:61022233-61022233 C>A_GEETPDAALTCLNERREQLPPQEDS
18:44102143-44102143 C>T	0.0	3713	MELANOMA	-	-	-	-	LOXHD1	ENST00000536736,p.G1669E|NM_001145472,p.G558E|uc010xcv.2,p.G602E|ENST00000579038,p.G462E|uc002lcf.4,p.G558E|uc002lcg.1,p.G1391E|ENST00000300591,p.G558E|ENST00000441551,p.G1463E|ENST00000398722,p.G1391E|uc002lce.4,p.G462E|ENST00000582408,p.G558E|ENST00000441893,p.G602E|uc010xcw.1,p.G1669E|NM_144612,p.G1669E	retained_intron, protein_coding, nonsense_mediated_decay	uc010xcw.1	nonsynonymous SNV	exon32	c.G5006A	p.G1669E	ERSKRIWLDYPRGKRGFSRGSVEEF	ERSKRIWLDYPREKRGFSRGSVEEF	1.0	4.0	unscreened	-	3713_18:44102143-44102143 C>T_ERSKRIWLDYPREKRGFSRGSVEEF
2:131673561-131673561 G>A	0.0	3713	MELANOMA	-	-	-	-	ARHGEF4	uc002trz.1,p.G141E|ENST00000409359,p.G351E|uc010fmw.1,p.G141E	retained_intron, protein_coding, processed_transcript	uc010fmw.1	nonsynonymous SNV	exon1	c.G422A	p.G141E	STGETPCESPTRGKTPAGNECELPA	STGETPCESPTREKTPAGNECELPA	1.0	4.0	unscreened	-	3713_2:131673561-131673561 G>A_STGETPCESPTREKTPAGNECELPA
4:147179851-147179851 C>T	1.0	3713	MELANOMA	-	-	-	-	SLC10A7	ENST00000432059,p.R316K|uc010ipa.2,p.R316K|uc003ikr.2,p.R329K|ENST00000335472,p.R329K|NM_001029998,p.R329K	protein_coding, processed_transcript	uc010ipa.2	nonsynonymous SNV	exon10	c.G947A	p.R316K	VLVPTIKSWMVSRQKGVKLTRPTV	VLVPTIKSWMVSKQKGVKLTRPTV	4.0	4.0	unscreened	-	3713_4:147179851-147179851 C>T_VLVPTIKSWMVSKQKGVKLTRPTV
4:57687633-57687633 C>T	0.0	3713	MELANOMA	-	-	-	-	SPINK2	uc031sem.1,p.D66N|NM_001271719,p.D66N	retained_intron, protein_coding	uc031sem.1	nonsynonymous SNV	exon1	c.G196A	p.D66N	GTRAPVTGGSPEDLPERQTALSIDY	GTRAPVTGGSPENLPERQTALSIDY	1.0	5.0	unscreened	-	3713_4:57687633-57687633 C>T_GTRAPVTGGSPENLPERQTALSIDY
2:131369406-131369406 G>A	0.0	3713	MELANOMA	-	-	-	-	POTEJ	NM_001277083,p.E101K|uc021vor.2,p.E101K|ENST00000409602,p.E101K	protein_coding	uc021vor.2	nonsynonymous SNV	exon1	c.G301A	p.E101K	SAFVEPRYHVRREDLDKLHRAAWWG	SAFVEPRYHVRRKDLDKLHRAAWWG	1.0	5.0	unscreened	-	3713_2:131369406-131369406 G>A_SAFVEPRYHVRRKDLDKLHRAAWWG
2:241659264-241659264 G>A	0.0	3713	MELANOMA	-	-	-	-	KIF1A	uc002vzx.3,p.P276S|uc010fzk.3,p.P1650S|NM_001244008,p.P1650S|NM_004321,p.P1549S|ENST00000320389,p.P1549S|uc002vzw.3,p.P210S|uc031rsb.1,p.P1549S|ENST00000498729,p.P1650S	retained_intron, protein_coding	uc031rsb.1	nonsynonymous SNV	exon43	c.C4645T	p.P1549S	LLPEADSKKLPSPARATETDKEPQR	LLPEADSKKLPSSARATETDKEPQR	1.0	4.0	unscreened	-	3713_2:241659264-241659264 G>A_LLPEADSKKLPSSARATETDKEPQR
7:142561730-142561730 G>A	0.0	3713	MELANOMA	-	-	-	-	EPHB6	ENST00000425995,p.R36Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000425995	nonsynonymous SNV	exon6	c.G107A	p.R36Q	LLVSSVLALEVGRGECSGRPATPDS	LLVSSVLALEVGQGECSGRPATPDS	1.0	5.0	unscreened	-	3713_7:142561730-142561730 G>A_LLVSSVLALEVGQGECSGRPATPDS
1:57480631-57480631 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1687769;OCCURENCE=1(skin)	-	DAB1	NM_021080,p.D457N|uc001cyt.1,p.D455N|ENST00000371234,p.D457N|uc009vzx.1,p.D457N|ENST00000439789,p.D371N|uc009vzw.1,p.D439N|uc001cyq.1,p.D455N|ENST00000371236,p.D457N|ENST00000414851,p.D439N|ENST00000420954,p.D455N|uc001cyr.1,p.D371N|uc001cys.1,p.D457N|ENST00000371231,p.D490N	protein_coding, processed_transcript	uc009vzx.1	nonsynonymous SNV	exon12	c.G1369A	p.D457N	SYFNKVGVAQDTDDCDDFDISQLNL	SYFNKVGVAQDTNDCDDFDISQLNL	1.0	4.0	unscreened	-	3713_1:57480631-57480631 C>T_SYFNKVGVAQDTNDCDDFDISQLNL
2:176947106-176947106 C>T	0.0	3713	MELANOMA	-	-	-	-	EVX2	ENST00000308618,p.G167R|NM_001080458,p.G167R|uc010zeu.2,p.G167R	protein_coding	uc010zeu.2	nonsynonymous SNV	exon2	c.G499A	p.G167R	TSASGSGLGSLHGGSGGSGGSAALG	TSASGSGLGSLHRGSGGSGGSAALG	1.0	6.0	unscreened	-	3713_2:176947106-176947106 C>T_TSASGSGLGSLHRGSGGSGGSAALG
2:44065083-44065083 C>T	0.0	3713	MELANOMA	-	-	-	-	ABCG5	uc002rtn.3,p.R52K|ENST00000260645,p.R52K|NM_022436,p.R52K	protein_coding, nonsense_mediated_decay	uc002rtn.3	nonsynonymous SNV	exon2	c.G155A	p.R52K	ILHASYSVSHRVRPWWDITSCRQQW	ILHASYSVSHRVKPWWDITSCRQQW	1.0	5.0	unscreened	-	3713_2:44065083-44065083 C>T_ILHASYSVSHRVKPWWDITSCRQQW
10:18828384-18828384 G>A	0.0	3713	MELANOMA	-	-	-	-	CACNB2	ENST00000282343,p.E544K|ENST00000377319,p.E479K|NM_201571,p.E544K|NM_201590,p.E518K|ENST00000377331,p.E520K|uc010qco.1,p.E486K|ENST00000352115,p.E548K|uc001ipz.2,p.E494K|NM_201597,p.E548K|NM_201570,p.E524K|uc001ips.2,p.E548K|NM_201596,p.E572K|ENST00000377315,p.E524K|ENST00000324631,p.E572K|uc001ipy.2,p.E518K|uc001ipr.2,p.E572K|uc001ipx.2,p.E517K|uc009xjz.1,p.E322K|NM_201572,p.E520K|uc009xka.2,p.E506K|uc001ipu.3,p.E544K|NM_000724,p.E517K|NM_001167945,p.E506K|ENST00000396576,p.E517K|uc001iqa.2,p.E524K|ENST00000377328,p.E322K|uc001ipv.3,p.E520K|ENST00000377329,p.E518K|NM_201593,p.E534K|uc001ipt.2,p.E534K|uc001ipw.2,p.E479K	retained_intron, protein_coding, processed_transcript	uc010qco.1	nonsynonymous SNV	exon13	c.G1456A	p.E486K	QESRDSAYVEPKEDYSHDHVDHYAS	QESRDSAYVEPKKDYSHDHVDHYAS	1.0	5.0	unscreened	-	3713_10:18828384-18828384 G>A_QESRDSAYVEPKKDYSHDHVDHYAS
19:36685152-36685152 G>C	0.0	3713	MELANOMA	-	-	-	-	ZNF565	NM_152477,p.T72R|NM_001042474,p.T72R|ENST00000355114,p.T112R|ENST00000392173,p.T72R|uc002odn.3,p.T72R|uc002odo.3,p.T72R|ENST00000304116,p.T72R	retained_intron, protein_coding	uc002odo.3	nonsynonymous SNV	exon4	c.C215G	p.T72R	QGKEPWMIANDVTGPWCPDLESRCE	QGKEPWMIANDVRGPWCPDLESRCE	3.0	5.0	unscreened	-	3713_19:36685152-36685152 G>C_QGKEPWMIANDVRGPWCPDLESRCE
10:55570420-55570420 C>T	0.0	3713	MELANOMA	-	-	-	-	PCDH15	ENST00000373965,p.E1467K|ENST00000395445,p.E1467K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000395445	nonsynonymous SNV	exon35	c.G4399A	p.E1467K	YEELGDSSMHKYEMPQYGSRRRLLP	YEELGDSSMHKYKMPQYGSRRRLLP	1.0	5.0	unscreened	-	3713_10:55570420-55570420 C>T_YEELGDSSMHKYKMPQYGSRRRLLP
12:69968035-69968035 T>C	1.0	3713	MELANOMA	-	-	-	-	FRS2	uc009zrk.3,p.V276A|uc001suz.3,p.V276A|NM_006654,p.V276A|NM_001278353,p.V276A|ENST00000549921,p.V276A|NM_001278357,p.V276A|ENST00000550389,p.V276A|NM_001042555,p.V276A|NM_001278355,p.V276A|ENST00000397997,p.V276A|NM_001278354,p.V276A|NM_001278356,p.V276A|ENST00000299293,p.V276A|uc001suy.3,p.V276A|NM_001278351,p.V276A|uc009zrj.3,p.V276A	protein_coding	uc009zrk.3	nonsynonymous SNV	exon7	c.T827C	p.V276A	EKEKLEQLGRDQVSGSGANNTEWDT	EKEKLEQLGRDQASGSGANNTEWDT	5.0	4.0	unscreened	-	3713_12:69968035-69968035 T>C_EKEKLEQLGRDQASGSGANNTEWDT
12:2795388-2795388 G>A	0.0	3713	MELANOMA	0.0005	-	-	-	CACNA1C	uc001qko.2,p.D1933N|ENST00000399617,p.D1948N|NM_001167625,p.D1973N|uc001qkt.2,p.D1932N|NM_001129837,p.D1921N|NM_001129835,p.D1932N|NM_001129834,p.D1932N|NM_001129830,p.D1948N|ENST00000399644,p.D1913N|ENST00000335762,p.D1938N|ENST00000327702,p.D1948N|uc009zdu.1,p.D1996N|NM_001129846,p.D1902N|ENST00000399606,p.D1933N|NM_001129836,p.D1930N|ENST00000402845,p.D1932N|ENST00000399655,p.D1913N|ENST00000399638,p.D1941N|uc001qku.2,p.D1948N|uc001qkb.2,p.D1913N|ENST00000399629,p.D1930N|uc001qkk.2,p.D1913N|uc001qkj.2,p.D1948N|uc001qke.2,p.D1902N|uc001qkn.2,p.D1913N|NM_001129831,p.D1941N|uc001qkm.2,p.D1973N|uc001qkq.2,p.D1941N|uc001qki.1,p.D1720N|uc009zdv.1,p.D1910N|NM_001129838,p.D1921N|ENST00000399637,p.D1932N|uc001qkh.2,p.D1921N|ENST00000399621,p.D1932N|uc001qkr.2,p.D1930N|uc001qks.2,p.D1913N|uc001qkf.2,p.D1921N|NM_001167623,p.D1913N|NM_001129839,p.D1919N|NM_001129829,p.D1954N|NM_001129842,p.D1913N|NM_001129827,p.D1961N|NM_001129841,p.D1913N|NM_001129843,p.D1913N|ENST00000399597,p.D1913N|NM_001129840,p.D1913N|ENST00000399641,p.D1913N|uc009zdw.1,p.D1954N|NM_001129844,p.D1910N|uc001qkp.2,p.D1913N|NM_001167624,p.D1948N|ENST00000399603,p.D1913N|NM_001129832,p.D1933N|uc001qkl.2,p.D1961N|uc001qkc.2,p.D1932N|uc001qkg.2,p.D1919N|NM_199460,p.D1996N|uc001qjz.2,p.D1913N|NM_001129833,p.D1932N|ENST00000406454,p.D1984N|ENST00000399649,p.D1919N|ENST00000399634,p.D1984N|ENST00000399591,p.D1921N|ENST00000347598,p.D1961N|ENST00000399595,p.D1921N|ENST00000344100,p.D1954N|ENST00000399601,p.D1913N|uc001qky.1,p.D231N|uc001qkd.2,p.D1932N|uc010sea.1,p.D604N|NM_000719,p.D1913N	retained_intron, protein_coding, processed_transcript	uc010sea.1	nonsynonymous SNV	exon15	c.G1810A	p.D604N	LECLKRQKDRGGDISQKTVLPLHLV	LECLKRQKDRGGNISQKTVLPLHLV	2.0	5.0	unscreened	-	3713_12:2795388-2795388 G>A_LECLKRQKDRGGNISQKTVLPLHLV
X:125955489-125955489 C>T	0.0	3713	MELANOMA	-	-	-	-	PRR32	NM_001122716,p.P290S|uc010nra.3,p.P290S|ENST00000371125,p.P290S	protein_coding	uc010nra.3	nonsynonymous SNV	exon2	c.C868T	p.P290S	YFAHFHSGGMPAPASPNREHS	YFAHFHSGGMPASASPNREHS	1.0	6.0	unscreened	-	3713_X:125955489-125955489 C>T_YFAHFHSGGMPASASPNREHS
4:62383161-62383161 C>T	0.0	3713	MELANOMA	-	-	-	-	LPHN3	ENST00000508693,p.R62C|ENST00000506746,p.R62C|ENST00000506720,p.R62C|ENST00000507164,p.R62C|ENST00000511324,p.R62C|uc010ihg.1,p.R62C|ENST00000509896,p.R62C|ENST00000507625,p.R62C	retained_intron, protein_coding, processed_transcript	uc010ihg.1	nonsynonymous SNV	exon4	c.C184T	p.R62C	LQQPAAERTAAHRGQGPRGATRGVR	LQQPAAERTAAHCGQGPRGATRGVR	1.0	4.0	unscreened	-	3713_4:62383161-62383161 C>T_LQQPAAERTAAHCGQGPRGATRGVR
6:84765060-84765060 C>T	0.0	3713	MELANOMA	-	-	-	-	MRAP2	NM_138409,p.S8F|uc003pkg.4,p.S8F|ENST00000257776,p.S8F	protein_coding	uc003pkg.4	nonsynonymous SNV	exon2	c.C23T	p.S8F	MSAQRLISNRTSQQSASNSD	MSAQRLIFNRTSQQSASNSD	1.0	5.0	unscreened	-	3713_6:84765060-84765060 C>T_MSAQRLIFNRTSQQSASNSD
3:195487965-195487965 G>A	0.0	3713	MELANOMA	-	-	-	2	MUC4	NM_018406,p.L4880F|ENST00000346145,p.L644F|uc021xjn.1,p.L569F|uc021xjm.1,p.L389F|NM_004532,p.L644F|uc021xji.1,p.L444F|uc021xjp.1,p.L4880F|uc021xjj.1,p.L444F|uc003fvp.3,p.L593F|uc003fuz.3,p.L478F|uc003fva.3,p.L360F|uc021xjk.1,p.L621F|uc021xjo.1,p.L360F|ENST00000478156,p.L4880F|uc021xjg.1,p.L360F|uc003fvo.3,p.L644F|uc003fve.3,p.L396F|ENST00000463781,p.L4880F|ENST00000349607,p.L593F|uc003fvb.3,p.L396F|ENST00000475231,p.L4828F|NM_138297,p.L593F|uc021xjl.1,p.L360F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon16	c.C14638T	p.L4880F	FGMTWQINGTGLLGKRNDQLPSNFT	FGMTWQINGTGLFGKRNDQLPSNFT	1.0	6.0	unscreened	-	3713_3:195487965-195487965 G>A_FGMTWQINGTGLFGKRNDQLPSNFT
3:186395022-186395022 C>T	0.0	3713	MELANOMA	-	-	-	-	HRG	uc003fqq.3,p.P310S|ENST00000232003,p.P310S|NM_000412,p.P310S	retained_intron, protein_coding, processed_transcript	uc003fqq.3	nonsynonymous SNV	exon7	c.C928T	p.P310S	PPPPDERDHSHGPPLPQGPPPLLPM	PPPPDERDHSHGSPLPQGPPPLLPM	1.0	5.0	unscreened	-	3713_3:186395022-186395022 C>T_PPPPDERDHSHGSPLPQGPPPLLPM
4:111409713-111409713 G>A	0.0	3713	MELANOMA	-	-	ID=COSM1205334;OCCURENCE=1(large_intestine)	-	ENPEP	NM_001977,p.D221N|uc003iab.4,p.D221N|ENST00000265162,p.D221N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003iab.4	nonsynonymous SNV	exon2	c.G661A	p.D221N	TENGQVKSIVATDHEPTDARKSFPC	TENGQVKSIVATNHEPTDARKSFPC	1.0	6.0	unscreened	-	3713_4:111409713-111409713 G>A_TENGQVKSIVATNHEPTDARKSFPC
7:141920429-141920429 G>A	0.0	3713	MELANOMA	-	-	-	-	LOC93432	ENST00000477922,p.D2040N|NM_001293626,p.D2040N	retained_intron, protein_coding	NM_001293626	nonsynonymous SNV	exon48	c.G6118A	p.D2040N	STIGVTTGTTVPDTTAPFPTSTTST	STIGVTTGTTVPNTTAPFPTSTTST	1.0	5.0	unscreened	-	3713_7:141920429-141920429 G>A_STIGVTTGTTVPNTTAPFPTSTTST
8:121180457-121180457 G>A	0.0	3713	MELANOMA	-	-	-	-	COL14A1	uc003yox.4,p.G136E|ENST00000297848,p.G136E|NM_021110,p.G136E|ENST00000247781,p.G136E|ENST00000537875,p.G136E|ENST00000309791,p.G136E|ENST00000498051,p.G136E	protein_coding, processed_transcript, nonsense_mediated_decay	uc003yox.4	nonsynonymous SNV	exon5	c.G407A	p.G136E	KDPKPRVKVVDRGNGSRPSSPEEVK	KDPKPRVKVVDRENGSRPSSPEEVK	3.0	4.0	unscreened	-	3713_8:121180457-121180457 G>A_KDPKPRVKVVDRENGSRPSSPEEVK
18:31251714-31251714 C>T	0.0	3713	MELANOMA	-	-	-	-	ASXL3	ENST00000592288,p.S201F|NM_030632,p.S200F|uc010dmg.1,p.S200F|ENST00000269197,p.S200F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dmg.1	nonsynonymous SNV	exon7	c.C599T	p.S200F	KVSDEQSDSPSGSESKNGEADSSDK	KVSDEQSDSPSGFESKNGEADSSDK	1.0	6.0	unscreened	-	3713_18:31251714-31251714 C>T_KVSDEQSDSPSGFESKNGEADSSDK
1:152085145-152085145 C>T	0.0	3713	MELANOMA	-	-	-	-	TCHH	NM_007113,p.R183Q|ENST00000368804,p.R183Q|uc009wne.1,p.R183Q|uc001ezp.3,p.R183Q	protein_coding	uc009wne.1	nonsynonymous SNV	exon3	c.G548A	p.R183Q	EELWRQRQEWQEREERRAEEEQLQS	EELWRQRQEWQEQEERRAEEEQLQS	1.0	6.0	unscreened	-	3713_1:152085145-152085145 C>T_EELWRQRQEWQEQEERRAEEEQLQS
14:88789140-88789140 C>T	0.0	3713	MELANOMA	-	-	-	-	KCNK10	uc001xwn.3,p.M1I|ENST00000319231,p.M1I|NM_138317,p.M1I	protein_coding	uc001xwn.3	nonsynonymous SNV	exon1	c.G3A	p.M1I	MKFPIETPRKQVN	IKFPIETPRKQVN	1.0	4.0	unscreened	-	3713_14:88789140-88789140 C>T_IKFPIETPRKQVN
7:45115547-45115547 C>G	1.0	3713	MELANOMA	-	-	-	-	CCM2	NM_001167934,p.S351C|ENST00000258781,p.S409C|ENST00000475551,p.S403C|ENST00000474617,p.S312C|uc003tmp.3,p.S351C|uc003tms.3,p.S430C|NM_001029835,p.S430C|ENST00000544363,p.S318C|ENST00000541586,p.S351C|uc003tmr.3,p.S318C|ENST00000381112,p.S430C|NM_001167935,p.S318C|NM_031443,p.S409C|uc003tmo.3,p.S409C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003tms.3	nonsynonymous SNV	exon10	c.C1289G	p.S430C	SSTTNGNRATGSSDDRSAPSEGDEW	SSTTNGNRATGSCDDRSAPSEGDEW	8.0	6.0	-	-	3713_7:45115547-45115547 C>G_SSTTNGNRATGSCDDRSAPSEGDEW
4:189061727-189061727 G>A	0.0	3713	MELANOMA	-	-	-	-	TRIML1	uc003izm.1,p.E152K|ENST00000332517,p.E152K|NM_178556,p.E152K	protein_coding, processed_transcript	uc003izm.1	nonsynonymous SNV	exon2	c.G454A	p.E152K	QEILNLLRVRRKEAQAVLTHEKERV	QEILNLLRVRRKKAQAVLTHEKERV	1.0	5.0	unscreened	-	3713_4:189061727-189061727 G>A_QEILNLLRVRRKKAQAVLTHEKERV
10:116056742-116056742 C>T	0.0	3713	MELANOMA	-	-	-	-	AFAP1L2	uc001lbn.3,p.A809T|ENST00000369271,p.A805T|uc010qse.2,p.A862T|NM_032550,p.A805T|uc001lbm.3,p.A248T|ENST00000545353,p.A862T|uc010qsd.2,p.A371T|ENST00000304129,p.A809T|NM_001287824,p.A862T|NM_001001936,p.A809T|uc001lbp.3,p.A833T|uc001lbo.3,p.A805T	protein_coding, processed_transcript	uc010qse.2	nonsynonymous SNV	exon19	c.G2584A	p.A862T	VVVTGKGTVLQKAKEWEKKGAS	VVVTGKGTVLQKTKEWEKKGAS	5.0	4.0	unscreened	-	3713_10:116056742-116056742 C>T_VVVTGKGTVLQKTKEWEKKGAS
11:1861083-1861083 G>A	0.0	3713	MELANOMA	-	-	-	-	TNNI2	ENST00000381911,p.E5K|ENST00000252898,p.E5K|ENST00000381906,p.E5K|uc021qbv.1,p.E5K	retained_intron, protein_coding	uc021qbv.1	nonsynonymous SNV	exon2	c.G13A	p.E5K	MGDEEKRNRAITARRQH	MGDEKKRNRAITARRQH	1.0	6.0	unscreened	-	3713_11:1861083-1861083 G>A_MGDEKKRNRAITARRQH
4:73161473-73161473 C>T	0.0	3713	MELANOMA	-	-	-	-	ADAMTS3	NM_014243,p.R874K|uc003hgk.2,p.R874K|ENST00000286657,p.R874K	protein_coding, processed_transcript	uc003hgk.2	nonsynonymous SNV	exon19	c.G2621A	p.R874K	GGGFQYTKYGCRRKSDNKMVHRSFC	GGGFQYTKYGCRKKSDNKMVHRSFC	1.0	6.0	unscreened	-	3713_4:73161473-73161473 C>T_GGGFQYTKYGCRKKSDNKMVHRSFC
X:34148828-34148828 T>C	0.0	3713	MELANOMA	-	-	-	-	FAM47A	ENST00000346193,p.K523R|uc004ddg.3,p.K523R|NM_203408,p.K523R	protein_coding	uc004ddg.3	nonsynonymous SNV	exon1	c.A1568G	p.K523R	TRRTSSLRSEPPKTRRTSSLGPEPP	TRRTSSLRSEPPRTRRTSSLGPEPP	1.0	5.0	unscreened	-	3713_X:34148828-34148828 T>C_TRRTSSLRSEPPRTRRTSSLGPEPP
17:74005451-74005451 C>T	0.0	3713	MELANOMA	-	-	-	-	EVPL	ENST00000586740,p.E1301K|uc010wss.1,p.E1301K|uc002jqi.2,p.E1279K|uc010wst.1,p.E749K|ENST00000301607,p.E1279K|NM_001988,p.E1279K	retained_intron, protein_coding	uc010wst.1	nonsynonymous SNV	exon20	c.G2245A	p.E749K	LREIDRLKAQLNELVNSHGRSQEQL	LREIDRLKAQLNKLVNSHGRSQEQL	1.0	6.0	unscreened	-	3713_17:74005451-74005451 C>T_LREIDRLKAQLNKLVNSHGRSQEQL
12:117681168-117681168 C>T	0.0	3713	MELANOMA	-	-	-	-	NOS1	ENST00000317775,p.D966N|NM_001204213,p.D630N|NM_001204214,p.D630N|ENST00000338101,p.D1000N|NM_001204218,p.D1000N|uc021ren.1,p.D630N|uc001twm.2,p.D966N|uc021reo.1,p.D630N|NM_000620,p.D966N|uc001twn.2,p.D1000N	protein_coding, processed_transcript	uc021reo.1	nonsynonymous SNV	exon18	c.G1888A	p.D630N	NIEKANNSLISNDRSWKRNKFRLTF	NIEKANNSLISNNRSWKRNKFRLTF	1.0	5.0	unscreened	-	3713_12:117681168-117681168 C>T_NIEKANNSLISNNRSWKRNKFRLTF
4:88035696-88035696 C>T	1.0	3713	MELANOMA	-	-	-	1	AFF1	uc011cda.2,p.P202S|uc011ccz.2,p.P571S|ENST00000307808,p.P564S|NM_005935,p.P564S|ENST00000395146,p.P571S|uc003hqj.4,p.P564S|ENST00000544085,p.P202S|uc003hqk.4,p.P564S|NM_001166693,p.P571S	retained_intron, protein_coding, processed_transcript	uc011cda.2	nonsynonymous SNV	exon9	c.C604T	p.P202S	TSQEHSESKDPPPKSSSKAPRAPPE	TSQEHSESKDPPSKSSSKAPRAPPE	7.0	4.0	unscreened	-	3713_4:88035696-88035696 C>T_TSQEHSESKDPPSKSSSKAPRAPPE
2:167313454-167313454 C>T	0.0	3713	MELANOMA	-	-	-	-	SCN7A	uc002udu.2,p.E406K|NM_002976,p.E406K|ENST00000424326,p.E406K|ENST00000409855,p.E406K|ENST00000419992,p.E406K	retained_intron, protein_coding, nonsense_mediated_decay	uc002udu.2	nonsynonymous SNV	exon10	c.G1216A	p.E406K	AMAYEEEKQRVGEISKKIEPKFQQT	AMAYEEEKQRVGKISKKIEPKFQQT	1.0	5.0	unscreened	-	3713_2:167313454-167313454 C>T_AMAYEEEKQRVGKISKKIEPKFQQT
7:751121-751121 G>A	1.0	3713	MELANOMA	-	-	-	-	PRKAR1B	uc003siu.2,p.P8S|NM_001164760,p.P8S|NM_001164758,p.P8S|ENST00000456696,p.P8S|uc021zyj.1,p.P8S|ENST00000403562,p.P8S|ENST00000417852,p.P8S|NM_001164759,p.P8S|NM_001164762,p.P8S|ENST00000406797,p.P8S|NM_001164761,p.P8S|ENST00000360274,p.P8S|ENST00000537384,p.P8S|uc021zyk.1,p.P8S|ENST00000430040,p.P8S|uc003siv.3,p.P8S|ENST00000544935,p.P8S|uc021zyi.1,p.P8S|NM_002735,p.P8S|uc003siw.2,p.P8S	protein_coding, processed_transcript	uc021zyk.1	nonsynonymous SNV	exon2	c.C22T	p.P8S	MASPPACPSEEDESLKGCEL	MASPPACSSEEDESLKGCEL	1.0	6.0	unscreened	-	3713_7:751121-751121 G>A_MASPPACSSEEDESLKGCEL
10:105942138-105942138 C>T	0.0	3713	MELANOMA	-	-	-	-	CFAP43	ENST00000428666,p.D760N|uc001kxw.3,p.D759N|ENST00000278064,p.D690N|uc009xxq.3,p.D67N|uc001kxx.4,p.D760N|ENST00000357060,p.D759N|NM_025145,p.D759N	protein_coding, processed_transcript	uc009xxq.3	nonsynonymous SNV	exon3	c.G199A	p.D67N	STTPKVSVDLGSDSEHTKQKASTDL	STTPKVSVDLGSNSEHTKQKASTDL	1.0	6.0	unscreened	-	3713_10:105942138-105942138 C>T_STTPKVSVDLGSNSEHTKQKASTDL
4:23816001-23816001 C>T	0.0	3713	MELANOMA	0.0005	-	-	-	PPARGC1A	uc031sdz.1,p.E357K|NM_013261,p.E369K|uc031seb.1,p.E374K|ENST00000264867,p.E369K|uc003gqs.3,p.E369K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031seb.1	nonsynonymous SNV	exon9	c.G1120A	p.E374K	QLSKSSVLTGGHEERKTKRPSLRLF	QLSKSSVLTGGHKERKTKRPSLRLF	1.0	6.0	unscreened	-	3713_4:23816001-23816001 C>T_QLSKSSVLTGGHKERKTKRPSLRLF
8:23060274-23060274 C>T	0.0	3713	MELANOMA	-	-	-	-	TNFRSF10A	ENST00000221132,p.G135E|NM_003844,p.G135E|uc003xda.3,p.G135E	retained_intron, protein_coding	uc003xda.3	nonsynonymous SNV	exon3	c.G404A	p.G135E	WEHSPLGELCPPGSHRSEHPGACNR	WEHSPLGELCPPESHRSEHPGACNR	3.0	4.0	unscreened	-	3713_8:23060274-23060274 C>T_WEHSPLGELCPPESHRSEHPGACNR
2:16085846-16085846 G>C	0.0	3713	MELANOMA	-	-	-	1	MYCN	NM_001293231,p.S130T|uc010yjr.2,p.S341T|uc002rci.3,p.S341T|NM_001293228,p.S341T|ENST00000281043,p.S341T|NM_005378,p.S341T	protein_coding	uc010yjr.2	nonsynonymous SNV	exon2	c.G1022C	p.S341T	QHNYAAPSPYVESEDAPPQKKIKSE	QHNYAAPSPYVETEDAPPQKKIKSE	1.0	5.0	unscreened	-	3713_2:16085846-16085846 G>C_QHNYAAPSPYVETEDAPPQKKIKSE
1:152280503-152280503 C>T	1.0	3713	MELANOMA	-	-	ID=COSM3719528;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	FLG	NM_002016,p.E2287K|uc001ezu.1,p.E2287K|ENST00000368799,p.E2287K	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.G6859A	p.E2287K	SRDGSRHPRSHHEDRAGHGHSAESS	SRDGSRHPRSHHKDRAGHGHSAESS	1.0	5.0	unscreened	-	3713_1:152280503-152280503 C>T_SRDGSRHPRSHHKDRAGHGHSAESS
17:10426953-10426953 C>T	0.0	3713	MELANOMA	-	-	-	-	MYH2	ENST00000397183,p.E1778K|NM_017534,p.E1778K|NM_001100112,p.E1778K|uc010coi.3,p.E1778K|ENST00000245503,p.E1778K|uc002gmp.4,p.E1778K	protein_coding	uc010coi.3	nonsynonymous SNV	exon37	c.G5332A	p.E1778K	TDAAMMAEELKKEQDTSAHLERMKK	TDAAMMAEELKKKQDTSAHLERMKK	1.0	5.0	unscreened	-	3713_17:10426953-10426953 C>T_TDAAMMAEELKKKQDTSAHLERMKK
19:42092202-42092202 C>T	0.0	3713	MELANOMA	-	-	-	-	CEACAM21	NM_001098506,p.P287L|NM_001288773,p.P159L|ENST00000187608,p.P286L|NM_001290113,p.P158L|ENST00000407170,p.P159L|uc002org.4,p.P286L|NM_033543,p.P286L|uc002ore.4,p.P287L|ENST00000401445,p.P287L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002org.4	nonsynonymous SNV	exon6	c.C857T	p.P286L	EQQPPASTPGHGPSDSSIS	EQQPPASTPGHGLSDSSIS	5.0	6.0	unscreened	-	3713_19:42092202-42092202 C>T_EQQPPASTPGHGLSDSSIS
5:31983407-31983407 G>A	0.0	3713	MELANOMA	-	-	-	-	PDZD2	uc003jhm.3,p.R208Q|uc011cnx.1,p.R34Q|ENST00000282493,p.R208Q|uc003jhl.3,p.R208Q|ENST00000438447,p.R208Q|NM_178140,p.R208Q	retained_intron, protein_coding, processed_transcript	uc011cnx.1	nonsynonymous SNV	exon2	c.G101A	p.R34Q	EPGETPTLELGDRTAKKGKRTRKFG	EPGETPTLELGDQTAKKGKRTRKFG	3.0	4.0	unscreened	-	3713_5:31983407-31983407 G>A_EPGETPTLELGDQTAKKGKRTRKFG
1:16095070-16095070 G>A	0.0	3713	MELANOMA	-	-	-	-	FBLIM1	NM_001024215,p.M162I|ENST00000441801,p.M162I|ENST00000375766,p.M162I|uc001axe.1,p.M162I|uc001axd.1,p.M162I|ENST00000375771,p.M162I|uc001axg.1,p.M162I|NM_017556,p.M162I	protein_coding, processed_transcript	uc001axg.1	nonsynonymous SNV	exon4	c.G486A	p.M162I	EGPSVQPGPLRPMEEELPPPPAEPV	EGPSVQPGPLRPIEEELPPPPAEPV	4.0	5.0	-	-	3713_1:16095070-16095070 G>A_EGPSVQPGPLRPIEEELPPPPAEPV
20:61956814-61956814 G>A	0.0	3713	MELANOMA	-	-	-	-	COL20A1	ENST00000326996,p.E1138K|ENST00000415763,p.E241K	retained_intron, protein_coding, processed_transcript	ENST00000415763	nonsynonymous SNV	exon8	c.G721A	p.E241K	VQGPVGPPGVKGEKGDHGLPGLQGH	VQGPVGPPGVKGKKGDHGLPGLQGH	3.0	6.0	unscreened	-	3713_20:61956814-61956814 G>A_VQGPVGPPGVKGKKGDHGLPGLQGH
20:61956814-61956814 G>A	0.0	3713	MELANOMA	-	-	-	-	COL20A1	ENST00000358894,p.E1106K|ENST00000422202,p.E1113K|uc011aau.2,p.E1106K|uc011aav.2,p.E927K|NM_020882,p.E1106K|ENST00000435874,p.E1113K	retained_intron, protein_coding, processed_transcript	uc011aav.2	nonsynonymous SNV	exon24	c.G2779A	p.E927K	FPGPRGPPGVKGEKGDHGLPGLQGH	FPGPRGPPGVKGKKGDHGLPGLQGH	3.0	6.0	unscreened	-	3713_20:61956814-61956814 G>A_FPGPRGPPGVKGKKGDHGLPGLQGH
20:61956814-61956814 G>A	0.0	3713	MELANOMA	-	-	-	-	COL20A1	ENST00000455906,p.E96K	retained_intron, protein_coding, processed_transcript	ENST00000455906	nonsynonymous SNV	exon4	c.G286A	p.E96K	PQGPPGPPGVKGEKGDHGLPGLQGH	PQGPPGPPGVKGKKGDHGLPGLQGH	3.0	6.0	unscreened	-	3713_20:61956814-61956814 G>A_PQGPPGPPGVKGKKGDHGLPGLQGH
1:89847345-89847345 G>A	0.0	3713	MELANOMA	-	-	-	-	GBP6	NM_198460,p.E322K|uc010ost.1,p.E192K|uc001dnf.2,p.E322K|ENST00000370456,p.E322K|ENST00000535065,p.E192K	protein_coding, processed_transcript	uc010ost.1	nonsynonymous SNV	exon5	c.G574A	p.E192K	CLENAVITLAQRENSAAVQRAADYY	CLENAVITLAQRKNSAAVQRAADYY	1.0	5.0	unscreened	-	3713_1:89847345-89847345 G>A_CLENAVITLAQRKNSAAVQRAADYY
1:176809372-176809372 G>A	0.0	3713	MELANOMA	-	-	-	-	PAPPA2	ENST00000367662,p.G1756R|uc001gkz.3,p.G1756R|NM_020318,p.G1756R	protein_coding, processed_transcript	uc001gkz.3	nonsynonymous SNV	exon22	c.G5266A	p.G1756R	TINNRAYCHYDGGDCCSSTLSSKKV	TINNRAYCHYDGRDCCSSTLSSKKV	1.0	5.0	unscreened	-	3713_1:176809372-176809372 G>A_TINNRAYCHYDGRDCCSSTLSSKKV
7:7545679-7545679 C>T	0.0	3713	MELANOMA	-	-	-	-	COL28A1	uc011jxe.1,p.E17K	retained_intron, protein_coding, nonsense_mediated_decay	uc011jxe.1	nonsynonymous SNV	exon12	c.G49A	p.E17K	DPEEFRELLDLQETQAQRGFKAIRV	DPEEFRELLDLQKTQAQRGFKAIRV	2.0	5.0	unscreened	-	3713_7:7545679-7545679 C>T_DPEEFRELLDLQKTQAQRGFKAIRV
10:49444529-49444529 A>T	0.0	3713	MELANOMA	-	-	-	-	FRMPD2	NM_001018071,p.V330D|uc001jgj.3,p.V299D|ENST00000305531,p.V306D|ENST00000407470,p.V299D|uc001jgh.3,p.V299D|ENST00000374201,p.V330D|uc001jgi.3,p.V330D	retained_intron, protein_coding, processed_transcript	uc001jgj.3	nonsynonymous SNV	exon8	c.T896A	p.V299D	GEAPMTLHLPGSVVTKKGKSYLALR	GEAPMTLHLPGSDVTKKGKSYLALR	1.0	5.0	unscreened	-	3713_10:49444529-49444529 A>T_GEAPMTLHLPGSDVTKKGKSYLALR
7:120979061-120979061 G>A	0.0	3713	MELANOMA	-	-	-	-	WNT16	uc003vjv.3,p.E244K|NM_016087,p.E244K|uc003vjw.3,p.E254K|ENST00000361301,p.E244K|NM_057168,p.E254K|ENST00000222462,p.E254K|uc010lkl.3,p.E38K	protein_coding	uc010lkl.3	nonsynonymous SNV	exon2	c.G112A	p.E38K	FEKIGHLLKDKYENSIQISDKTKRK	FEKIGHLLKDKYKNSIQISDKTKRK	1.0	6.0	unscreened	-	3713_7:120979061-120979061 G>A_FEKIGHLLKDKYKNSIQISDKTKRK
5:140389489-140389489 A>T	0.0	3713	MELANOMA	-	-	-	-	PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2	NM_031849,p.K676N|NM_018911,p.K940N|ENST00000398640,p.K939N|ENST00000289272,p.K940N|NM_031857,p.K940N|ENST00000506939,p.K675N|NM_018909,p.K940N|uc003lhn.2,p.K676N|ENST00000307360,p.K938N|ENST00000522353,p.K940N|ENST00000531613,p.K940N|uc003lhf.2,p.K940N|ENST00000529310,p.K940N|ENST00000530339,p.K937N|uc003lia.2,p.K939N|uc003lhu.2,p.K940N|ENST00000526136,p.K938N|NM_018910,p.K927N|ENST00000525929,p.K927N|NM_018901,p.K938N|uc003lhq.2,p.K927N|NM_018905,p.K938N|ENST00000527624,p.K676N|ENST00000398631,p.K931N|NM_018908,p.K926N|ENST00000289269,p.K997N|NM_018902,p.K939N|ENST00000394633,p.K676N|uc003lhl.2,p.K926N|uc003lhd.2,p.K938N|ENST00000504120,p.K940N|uc003lhs.2,p.K940N|NM_018903,p.K931N|uc003lif.2,p.K940N|ENST00000532602,p.K940N|NM_018906,p.K940N|NM_018899,p.K997N|uc003lii.3,p.K997N|uc003lih.2,p.K953N|ENST00000253807,p.K953N|uc003lho.2,p.K940N|NM_018904,p.K940N|uc003lhx.2,p.K938N|uc003lhi.2,p.K937N|uc003lhb.2,p.K940N|ENST00000529859,p.K926N|NM_031860,p.K675N|uc003lic.2,p.K931N|uc003lhw.2,p.K675N|uc003lha.2,p.K676N|NM_018900,p.K940N|NM_018898,p.K953N|NM_018907,p.K937N|NM_031411,p.K676N	protein_coding	uc003lii.3	nonsynonymous SNV	exon4	c.A2991T	p.K997N	KKKGNKTQEKKEKGNSTTDNSDQ	KKKGNKTQEKKENGNSTTDNSDQ	1.0	4.0	unscreened	-	3713_5:140389489-140389489 A>T_KKKGNKTQEKKENGNSTTDNSDQ
5:132149783-132149783 G>A	0.0	3713	MELANOMA	-	-	-	-	SOWAHA	NM_175873,p.G157E|ENST00000378693,p.G157E|uc003kxw.3,p.G157E	protein_coding	uc003kxw.3	nonsynonymous SNV	exon1	c.G470A	p.G157E	PGGPASEPAQPPGERSADPPLPALE	PGGPASEPAQPPEERSADPPLPALE	1.0	5.0	unscreened	-	3713_5:132149783-132149783 G>A_PGGPASEPAQPPEERSADPPLPALE
2:39406350-39406350 C>T	0.0	3713	MELANOMA	-	-	-	-	CDKL4	ENST00000451199,p.G84E	protein_coding, nonsense_mediated_decay	ENST00000451199	nonsynonymous SNV	exon3	c.G251A	p.G84E	QEAQIKRKARNEGRNRRRQQNQLLP	QEAQIKRKARNEERNRRRQQNQLLP	2.0	5.0	unscreened	-	3713_2:39406350-39406350 C>T_QEAQIKRKARNEERNRRRQQNQLLP
2:39406350-39406350 C>T	0.0	3713	MELANOMA	-	-	-	-	CDKL4	ENST00000378803,p.G302E|uc002rrm.3,p.G302E|NM_001009565,p.G302E	protein_coding, nonsense_mediated_decay	uc002rrm.3	nonsynonymous SNV	exon8	c.G905A	p.G302E	QEAQIKRKARNEGRNRRRQQVLPLK	QEAQIKRKARNEERNRRRQQVLPLK	2.0	5.0	unscreened	-	3713_2:39406350-39406350 C>T_QEAQIKRKARNEERNRRRQQVLPLK
4:47682182-47682182 C>T	0.0	3713	MELANOMA	-	-	-	-	CORIN	ENST00000502252,p.D303N|ENST00000508498,p.D231N|NM_006587,p.D370N|ENST00000273857,p.D370N|uc011bzg.2,p.D303N|uc011bzf.2,p.D231N|uc003gxm.3,p.D370N	retained_intron, protein_coding, processed_transcript	uc011bzg.2	nonsynonymous SNV	exon7	c.G907A	p.D303N	MEWVCDGDHDCVDKSDEVNCSCHSQ	MEWVCDGDHDCVNKSDEVNCSCHSQ	1.0	6.0	unscreened	-	3713_4:47682182-47682182 C>T_MEWVCDGDHDCVNKSDEVNCSCHSQ
5:42718559-42718559 G>A	0.0	3713	MELANOMA	-	-	-	-	GHR	uc021xyc.1,p.E294K|NM_001242462,p.E294K	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xyc.1	nonsynonymous SNV	exon8	c.G880A	p.E294K	LFVFLFSKQQRKEN	LFVFLFSKQQRKKN	1.0	3.0	unscreened	-	3713_5:42718559-42718559 G>A_LFVFLFSKQQRKKN
1:152129259-152129259 C>T	0.0	3713	MELANOMA	-	-	-	-	RPTN	NM_001122965,p.E106K|uc001ezs.1,p.E106K|ENST00000316073,p.E106K	protein_coding	uc001ezs.1	nonsynonymous SNV	exon3	c.G316A	p.E106K	HGGRTSQQERGQEGAQDCKFPGNTG	HGGRTSQQERGQKGAQDCKFPGNTG	1.0	4.0	unscreened	-	3713_1:152129259-152129259 C>T_HGGRTSQQERGQKGAQDCKFPGNTG
6:76024698-76024698 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1081736;OCCURENCE=1(endometrium)	-	FILIP1	ENST00000370020,p.A185T|ENST00000393004,p.A284T|NM_015687,p.A284T|ENST00000237172,p.A284T|NM_001289987,p.A287T|uc003pia.3,p.A284T|NM_001300866,p.A284T|uc003pib.1,p.A36T|uc003phy.1,p.A284T|uc010kbe.3,p.A287T|uc003phz.3,p.A185T	protein_coding, processed_transcript	uc010kbe.3	nonsynonymous SNV	exon6	c.G859A	p.A287T	TQKLREEEEKLKAITSKSKEDRQKL	TQKLREEEEKLKTITSKSKEDRQKL	1.0	4.0	unscreened	-	3713_6:76024698-76024698 C>T_TQKLREEEEKLKTITSKSKEDRQKL
10:31815906-31815906 G>A	1.0	3713	MELANOMA	-	-	-	2	ZEB1	ENST00000560721,p.R1010K|uc010qeh.2,p.R963K|ENST00000361642,p.R1031K|NM_001174094,p.R1013K|NM_001128128,p.R1014K|NM_001174096,p.R1031K|uc001ivs.4,p.R1030K|ENST00000320985,p.R1030K|uc001ivv.4,p.R1010K|ENST00000542815,p.R963K|uc001ivr.4,p.R812K|uc009xlo.2,p.R1013K|uc010qef.2,p.R812K|uc001ivu.4,p.R1031K|NM_030751,p.R1030K|NM_001174095,p.R963K|NM_001174093,p.R1010K|uc001ivt.4,p.R812K|ENST00000446923,p.R1014K|uc009xlp.3,p.R1014K	retained_intron, protein_coding, processed_transcript	uc010qeh.2	nonsynonymous SNV	exon8	c.G2888A	p.R963K	SQGDSDERESLTREEDEDSEKEEEE	SQGDSDERESLTKEEDEDSEKEEEE	4.0	4.0	unscreened	-	3713_10:31815906-31815906 G>A_SQGDSDERESLTKEEDEDSEKEEEE
8:23003397-23003397 G>A	0.0	3713	MELANOMA	0.0018	-	-	-	TNFRSF10D	NM_003840,p.P174S|uc003xcz.2,p.P174S|ENST00000312584,p.P174S	protein_coding	uc003xcz.2	nonsynonymous SNV	exon5	c.C520T	p.P174S	CPRGMVKVSNCTPRSDIKCKNESAA	CPRGMVKVSNCTSRSDIKCKNESAA	3.0	5.0	unscreened	-	3713_8:23003397-23003397 G>A_CPRGMVKVSNCTSRSDIKCKNESAA
12:2622120-2622120 G>A	0.0	3713	MELANOMA	-	-	-	-	CACNA1C	ENST00000335762,p.E454K	retained_intron, protein_coding, processed_transcript	ENST00000335762	nonsynonymous SNV	exon9	c.G1360A	p.E454K	TQAEDIDPENEDEGMDEEKPRNRGT	TQAEDIDPENEDKGMDEEKPRNRGT	2.0	6.0	unscreened	-	3713_12:2622120-2622120 G>A_TQAEDIDPENEDKGMDEEKPRNRGT
10:48416399-48416399 C>T	0.0	3713	MELANOMA	-	-	-	-	GDF2	uc001jfa.1,p.D99N|ENST00000249598,p.D99N|NM_016204,p.D99N	protein_coding	uc001jfa.1	nonsynonymous SNV	exon1	c.G295A	p.D99N	QYMIDLYNRYTSDKSTTPASNIVRS	QYMIDLYNRYTSNKSTTPASNIVRS	1.0	5.0	unscreened	-	3713_10:48416399-48416399 C>T_QYMIDLYNRYTSNKSTTPASNIVRS
2:179742800-179742800 G>A	0.0	3713	MELANOMA	-	-	-	-	CCDC141	ENST00000446116,p.A532V|NM_173648,p.A597V|ENST00000409284,p.A597V|ENST00000443758,p.A597V|uc002ung.3,p.A597V|uc002unf.1,p.A76V|uc002une.2,p.A597V|ENST00000420890,p.A597V|ENST00000295723,p.A22V|ENST00000343876,p.A41V	protein_coding, processed_transcript	uc002ung.3	nonsynonymous SNV	exon12	c.C1790T	p.A597V	YETEIPQKEQDDAKAKHCSDSAEKQ	YETEIPQKEQDDVKAKHCSDSAEKQ	1.0	4.0	unscreened	-	3713_2:179742800-179742800 G>A_YETEIPQKEQDDVKAKHCSDSAEKQ
12:2783667-2783667 G>A	0.0	3713	MELANOMA	-	-	-	-	CACNA1C	NM_001129833,p.E1582K|ENST00000399621,p.E1582K|uc001qkc.2,p.E1582K|ENST00000399649,p.E1569K|ENST00000344100,p.E1604K|ENST00000399591,p.E1571K|uc001qkg.2,p.E1569K|NM_001129829,p.E1604K|ENST00000402845,p.E1582K|uc001qkh.2,p.E1571K|NM_001129837,p.E1571K|uc009zdw.1,p.E1604K|NM_001129834,p.E1582K|NM_001129839,p.E1569K|uc001qkt.2,p.E1582K|NM_001129835,p.E1582K|uc001qkf.2,p.E1571K|uc001qkd.2,p.E1582K|ENST00000399637,p.E1582K|ENST00000399595,p.E1571K|NM_001129838,p.E1571K	retained_intron, protein_coding, processed_transcript	uc009zdw.1	nonsynonymous SNV	exon39	c.G4810A	p.E1604K	LRIKTEEGPSPSEAHQGAEDPFRPA	LRIKTEEGPSPSKAHQGAEDPFRPA	2.0	5.0	unscreened	-	3713_12:2783667-2783667 G>A_LRIKTEEGPSPSKAHQGAEDPFRPA
10:7866442-7866442 C>T	1.0	3713	MELANOMA	-	-	-	-	TAF3	uc010qbd.3,p.P110S|NM_031923,p.P110S|ENST00000344293,p.P110S	protein_coding	uc010qbd.3	nonsynonymous SNV	exon2	c.C328T	p.P110S	SFPVSKNNVLQFPQPGSKDAEERKE	SFPVSKNNVLQFSQPGSKDAEERKE	4.0	5.0	-	-	3713_10:7866442-7866442 C>T_SFPVSKNNVLQFSQPGSKDAEERKE
5:13882882-13882882 C>T	0.0	3713	MELANOMA	-	-	-	-	DNAH5	NM_001369,p.E1073K|ENST00000265104,p.E1073K|uc003jfd.2,p.E1073K	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon21	c.G3217A	p.E1073K	IQERKMAALQSNEDSDSDVEMGENE	IQERKMAALQSNKDSDSDVEMGENE	1.0	4.0	unscreened	-	3713_5:13882882-13882882 C>T_IQERKMAALQSNKDSDSDVEMGENE
2:21235220-21235220 C>T	0.0	3713	MELANOMA	-	-	-	-	APOB	NM_000384,p.R1507K|ENST00000233242,p.R1507K|uc002red.3,p.R1507K	protein_coding	uc002red.3	nonsynonymous SNV	exon26	c.G4520A	p.R1507K	FYAKGTYGLSCQRDPNTGRLNGESN	FYAKGTYGLSCQKDPNTGRLNGESN	1.0	5.0	unscreened	-	3713_2:21235220-21235220 C>T_FYAKGTYGLSCQKDPNTGRLNGESN
10:124380671-124380671 G>A	0.0	3713	MELANOMA	-	-	-	-	DMBT1	uc001lgm.1,p.D1038N|ENST00000368955,p.D1656N|ENST00000368909,p.D1666N|ENST00000344338,p.D1656N|NM_007329,p.D1666N|NM_004406,p.D1038N|uc009xzz.1,p.D1666N|ENST00000338354,p.D1666N|ENST00000330163,p.D1038N|uc021qag.1,p.D1656N|uc009yab.1,p.D369N|uc021qah.1,p.D1038N|uc001lgl.1,p.D1656N|ENST00000368956,p.D1038N|uc001lgk.1,p.D1666N|NM_017579,p.D1656N|uc021qaf.1,p.D1666N	protein_coding	uc021qah.1	nonsynonymous SNV	exon28	c.G3112A	p.D1038N	EVLYRGSWGTVCDDSWDTNDANVVC	EVLYRGSWGTVCNDSWDTNDANVVC	1.0	6.0	unscreened	-	3713_10:124380671-124380671 G>A_EVLYRGSWGTVCNDSWDTNDANVVC
7:54617801-54617801 G>A	0.0	3713	MELANOMA	-	-	ID=COSM304500,COSM165525;OCCURENCE=1(breast),1(large_intestine)	-	VSTM2A	ENST00000404951,p.R191Q|uc010kzf.3,p.R191Q|NM_001301009,p.R191Q|ENST00000402613,p.R191Q|ENST00000407838,p.R191Q|ENST00000402026,p.R190Q|uc022adk.1,p.R191Q|ENST00000302287,p.R191Q|NM_182546,p.R191Q	retained_intron, protein_coding, processed_transcript	uc022adk.1	nonsynonymous SNV	exon4	c.G572A	p.R191Q	AIPSSIHGSANQRTHSTSSPQVVAK	AIPSSIHGSANQQTHSTSSPQVVAK	1.0	6.0	unscreened	-	3713_7:54617801-54617801 G>A_AIPSSIHGSANQQTHSTSSPQVVAK
10:129914758-129914758 G>A	1.0	3713	MELANOMA	-	-	-	-	MKI67	ENST00000368654,p.P133S|uc001lke.3,p.P133S|NM_002417,p.P133S	protein_coding, processed_transcript	uc001lke.3	nonsynonymous SNV	exon6	c.C397T	p.P133S	ARRVSRSSFSSDPDEKAQDSKAYSK	ARRVSRSSFSSDSDEKAQDSKAYSK	5.0	6.0	-	-	3713_10:129914758-129914758 G>A_ARRVSRSSFSSDSDEKAQDSKAYSK
3:138738785-138738785 C>T	0.0	3713	MELANOMA	-	-	-	-	PRR23B	NM_001013650,p.G240E|uc003esy.1,p.G240E|ENST00000329447,p.G240E	protein_coding	uc003esy.1	nonsynonymous SNV	exon1	c.G719A	p.G240E	SPLQPLPPSPCVGSPGPHARSPLPE	SPLQPLPPSPCVESPGPHARSPLPE	1.0	5.0	unscreened	-	3713_3:138738785-138738785 C>T_SPLQPLPPSPCVESPGPHARSPLPE
12:130834429-130834429 G>A	0.0	3713	MELANOMA	-	-	-	-	PIWIL1	uc001uik.3,p.D321N|NM_004764,p.D321N|uc001uij.2,p.D321N|ENST00000245255,p.D321N|NM_001190971,p.D321N	protein_coding, processed_transcript	uc001uik.3	nonsynonymous SNV	exon9	c.G961A	p.D321N	LTKYNNKTYRVDDIDWDQNPKSTFK	LTKYNNKTYRVDNIDWDQNPKSTFK	1.0	6.0	unscreened	-	3713_12:130834429-130834429 G>A_LTKYNNKTYRVDNIDWDQNPKSTFK
2:39406350-39406350 C>T	0.0	3713	MELANOMA	-	-	-	-	CDKL4	ENST00000395035,p.G302E|uc010fal.2,p.G302E	protein_coding, nonsense_mediated_decay	uc010fal.2	nonsynonymous SNV	exon8	c.G905A	p.G302E	QEAQIKRKARNEGRNRRRQQQAPKS	QEAQIKRKARNEERNRRRQQQAPKS	2.0	5.0	unscreened	-	3713_2:39406350-39406350 C>T_QEAQIKRKARNEERNRRRQQQAPKS
12:113332403-113332403 G>A	0.0	3713	MELANOMA	-	-	-	-	RPH3A	uc010sym.2,p.G550E|uc001tua.3,p.G359E|NM_001143854,p.G599E|uc010syl.2,p.G599E|ENST00000551052,p.G595E|uc009zwe.1,p.G594E|uc001ttz.3,p.G599E|uc001tty.3,p.G595E|ENST00000548866,p.G550E|ENST00000543106,p.G599E|ENST00000420983,p.G599E|NM_014954,p.G595E|ENST00000389385,p.G599E|ENST00000415485,p.G599E|ENST00000447659,p.G550E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sym.2	nonsynonymous SNV	exon18	c.G1649A	p.G550E	DPFVKLWLKPDMGKKAKHKTQIKKK	DPFVKLWLKPDMEKKAKHKTQIKKK	1.0	6.0	unscreened	-	3713_12:113332403-113332403 G>A_DPFVKLWLKPDMEKKAKHKTQIKKK
12:123200165-123200165 C>T	0.0	3713	MELANOMA	-	-	-	-	HCAR3	NM_006018,p.E374K|ENST00000528880,p.E374K|uc001ucy.4,p.E374K	protein_coding	uc001ucy.4	nonsynonymous SNV	exon1	c.G1120A	p.E374K	SNNHSKKGHCHQEPASLEKQLGCCI	SNNHSKKGHCHQKPASLEKQLGCCI	1.0	5.0	unscreened	-	3713_12:123200165-123200165 C>T_SNNHSKKGHCHQKPASLEKQLGCCI
12:104107478-104107478 G>A	0.0	3713	MELANOMA	-	-	-	-	STAB2	ENST00000388887,p.R1490K|NM_017564,p.R1490K|uc001tjw.3,p.R1490K	retained_intron, protein_coding, nonsense_mediated_decay	uc001tjw.3	nonsynonymous SNV	exon42	c.G4469A	p.R1490K	SNGGCSAKADCKRTTPGRRVCTCKA	SNGGCSAKADCKKTTPGRRVCTCKA	1.0	5.0	unscreened	-	3713_12:104107478-104107478 G>A_SNGGCSAKADCKKTTPGRRVCTCKA
19:9059878-9059878 C>T	0.0	3713	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.G9190S|uc002mkp.3,p.G9190S|NM_024690,p.G9190S	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.G27568A	p.G9190S	LTSGLVKTTELLGTSSEPETSSPPN	LTSGLVKTTELLSTSSEPETSSPPN	1.0	4.0	unscreened	-	3713_19:9059878-9059878 C>T_LTSGLVKTTELLSTSSEPETSSPPN
13:66878825-66878825 C>T	0.0	3713	MELANOMA	-	-	-	-	PCDH9	ENST00000544246,p.G1226R|uc001vil.3,p.G1192R|uc010thl.2,p.G1184R|ENST00000456367,p.G1192R|NM_203487,p.G1226R|ENST00000377865,p.G1226R|NM_020403,p.G1192R|uc001vik.3,p.G1226R|ENST00000328454,p.G1192R	protein_coding	uc010thl.2	nonsynonymous SNV	exon5	c.G3550A	p.G1184R	IPLANLKSYKQAGGATESPKEHQL	IPLANLKSYKQARGATESPKEHQL	4.0	5.0	unscreened	-	3713_13:66878825-66878825 C>T_IPLANLKSYKQARGATESPKEHQL
12:79679732-79679732 G>A	1.0	3713	MELANOMA	-	-	-	-	SYT1	ENST00000552624,p.G111E|NM_001291901,p.G111E|ENST00000457153,p.G111E|uc001syu.3,p.G111E	protein_coding, processed_transcript	uc001syu.3	nonsynonymous SNV	exon4	c.G332A	p.G111E	KNAINMKDVKDLGKTMKDQDDDAET	KNAINMKDVKDLEKTMKDQDDDAET	1.0	5.0	unscreened	-	3713_12:79679732-79679732 G>A_KNAINMKDVKDLEKTMKDQDDDAET
19:38877250-38877250 C>T	0.0	3713	MELANOMA	-	-	ID=COSM995960;OCCURENCE=1(endometrium)	-	GGN	NM_152657,p.G218R|uc002oij.1,p.G218R|ENST00000585737,p.G135R|ENST00000334928,p.G218R|uc010efy.1,p.G135R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010efy.1	nonsynonymous SNV	exon3	c.G403A	p.G135R	PRNQGQTAGRARGGAPPHAGEGEMA	PRNQGQTAGRARRGAPPHAGEGEMA	1.0	6.0	unscreened	-	3713_19:38877250-38877250 C>T_PRNQGQTAGRARRGAPPHAGEGEMA
12:70188265-70188265 G>A	1.0	3713	MELANOMA	-	-	-	-	RAB3IP	NM_175625,p.E235K|uc001svp.3,p.E235K|ENST00000483530,p.E219K|ENST00000552199,p.E235K|uc001svm.3,p.E219K|uc001svt.3,p.E13K|NM_001278402,p.E13K|NM_175623,p.E235K|ENST00000553099,p.E13K|ENST00000378809,p.E235K|NM_022456,p.E219K|ENST00000550536,p.E235K|ENST00000378815,p.E219K|NM_175624,p.E219K|ENST00000551641,p.E13K|ENST00000325555,p.E13K|ENST00000247833,p.E219K|ENST00000362025,p.E235K|NM_001024647,p.E13K|ENST00000417413,p.E219K|uc021rao.1,p.E219K|uc001svn.3,p.E219K|uc001svq.3,p.E235K	retained_intron, protein_coding, nonsense_mediated_decay	uc021rao.1	nonsynonymous SNV	exon5	c.G655A	p.E219K	MVREANIKQATAEKQLKEAQGKIDV	MVREANIKQATAKKQLKEAQGKIDV	1.0	6.0	unscreened	-	3713_12:70188265-70188265 G>A_MVREANIKQATAKKQLKEAQGKIDV
1:232942618-232942618 G>A	0.0	3713	MELANOMA	-	-	-	-	MAP10	uc001hvh.2,p.E617K|ENST00000418460,p.E617K|NM_019090,p.E617K	protein_coding	uc001hvh.2	nonsynonymous SNV	exon1	c.G1849A	p.E617K	LQYKKNQIENYKEDKYSEKSSGALH	LQYKKNQIENYKKDKYSEKSSGALH	1.0	5.0	unscreened	-	3713_1:232942618-232942618 G>A_LQYKKNQIENYKKDKYSEKSSGALH
18:24436225-24436225 C>T	0.0	3713	MELANOMA	-	-	-	-	AQP4	uc002kvz.3,p.E286K|ENST00000581374,p.E286K|ENST00000440832,p.E286K|uc002kwa.3,p.E308K|NM_004028,p.E286K|NM_001650,p.E308K|ENST00000383168,p.E308K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kwa.3	nonsynonymous SNV	exon5	c.G922A	p.E308K	PGVVHVIDVDRGEEKKGKDQSGEVL	PGVVHVIDVDRGKEKKGKDQSGEVL	3.0	6.0	unscreened	-	3713_18:24436225-24436225 C>T_PGVVHVIDVDRGKEKKGKDQSGEVL
7:18705926-18705926 G>A	1.0	3713	MELANOMA	-	-	-	-	HDAC9	ENST00000405010,p.E517K|uc003suh.3,p.E517K|NM_001204145,p.E473K|ENST00000441542,p.E520K|uc003suf.2,p.E548K|ENST00000432645,p.E517K|NM_178423,p.E517K|uc011jyf.2,p.E440K|NM_001204148,p.E489K|uc003sui.3,p.E520K|uc003sud.2,p.E517K|uc011jye.2,p.E489K|NM_178425,p.E520K|NM_001204144,p.E515K|ENST00000417496,p.E515K|uc011jyd.2,p.E517K|uc010kud.2,p.E520K|uc003sue.3,p.E517K|uc003suj.3,p.E476K|uc011jyc.2,p.E476K|ENST00000456174,p.E489K|ENST00000406451,p.E517K|uc011jya.2,p.E515K|NM_001204147,p.E440K|uc003sua.1,p.E495K|uc011jyb.2,p.E473K|NM_014707,p.E517K|ENST00000524023,p.E440K|NM_058176,p.E517K|ENST00000401921,p.E476K|NM_001204146,p.E476K|ENST00000428307,p.E473K|ENST00000406072,p.E504K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011jyf.2	nonsynonymous SNV	exon10	c.G1318A	p.E440K	AEEELQGDQAMQEDRAPSSGNSTRS	AEEELQGDQAMQKDRAPSSGNSTRS	6.0	6.0	-	-	3713_7:18705926-18705926 G>A_AEEELQGDQAMQKDRAPSSGNSTRS
2:228148983-228148983 G>A	0.0	3713	MELANOMA	-	-	-	-	COL4A3	uc002vom.2,p.E935K|NM_000091,p.E935K|ENST00000396578,p.E935K	retained_intron, protein_coding, processed_transcript	uc002vom.2	nonsynonymous SNV	exon34	c.G2803A	p.E935K	VKGQRGTPGAKGEQGDKGNPGPSEI	VKGQRGTPGAKGKQGDKGNPGPSEI	1.0	5.0	unscreened	-	3713_2:228148983-228148983 G>A_VKGQRGTPGAKGKQGDKGNPGPSEI
6:90605815-90605815 C>T	0.0	3713	MELANOMA	-	-	-	-	GJA10	uc011eaa.2,p.S543L|ENST00000369352,p.S543L|NM_032602,p.S543L	protein_coding	uc011eaa.2	nonsynonymous SNV	exon1	c.C1628T	p.S543L	KIIHSIHSVKFNS	KIIHSIHSVKFNL	1.0	5.0	unscreened	-	3713_6:90605815-90605815 C>T_KIIHSIHSVKFNL
6:129748924-129748924 G>A	0.0	3713	MELANOMA	-	-	-	-	LAMA2	NM_000426,p.E1965K|uc021zfb.1,p.E1965K|NM_001079823,p.E1965K|uc003qbn.3,p.E1965K|ENST00000421865,p.E1965K|uc003qbo.3,p.E1965K	protein_coding, processed_transcript	uc021zfb.1	nonsynonymous SNV	exon41	c.G5893A	p.E1965K	TKLATGPRGLLKEDAKGCLQKSFRI	TKLATGPRGLLKKDAKGCLQKSFRI	1.0	6.0	unscreened	-	3713_6:129748924-129748924 G>A_TKLATGPRGLLKKDAKGCLQKSFRI
3:171329396-171329396 G>A	1.0	3713	MELANOMA	-	-	-	-	PLD1	ENST00000340989,p.P971S|uc003fhu.4,p.P265S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003fhu.4	nonsynonymous SNV	exon8	c.C793T	p.P265S	CFRSKMTPGVEDP	CFRSKMTPGVEDS	6.0	7.0	-	-	3713_3:171329396-171329396 G>A_CFRSKMTPGVEDS
10:116056742-116056742 C>T	0.0	3713	MELANOMA	-	-	-	-	AFAP1L2	uc001lbq.1,p.A331T	protein_coding, processed_transcript	uc001lbq.1	nonsynonymous SNV	exon6	c.G991A	p.A331T	VVVTGKGTVLQKAKVSSHSQPPLGP	VVVTGKGTVLQKTKVSSHSQPPLGP	5.0	4.0	unscreened	-	3713_10:116056742-116056742 C>T_VVVTGKGTVLQKTKVSSHSQPPLGP
2:179397958-179397958 C>T	0.0	3713	MELANOMA	-	-	-	-	TTN	ENST00000460472,p.E25397K|uc031rqd.1,p.E32821K|uc021vsz.2,p.E25589K|NM_133432,p.E25522K|uc021vtb.2,p.E25397K|uc031rqc.1,p.E34462K|ENST00000342992,p.E31894K|ENST00000342175,p.E25589K|NM_133378,p.E31894K|NM_133437,p.E25589K|uc021vsy.2,p.E31894K|NM_001256850,p.E32821K|ENST00000359218,p.E25522K|NM_001267550,p.E34462K|NM_003319,p.E25397K|uc021vta.2,p.E25522K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon308	c.G98461A	p.E32821K	HLQVERLRYKKQEFKSKEEHERHVQ	HLQVERLRYKKQKFKSKEEHERHVQ	1.0	5.0	unscreened	-	3713_2:179397958-179397958 C>T_HLQVERLRYKKQKFKSKEEHERHVQ
13:52603030-52603030 T>G	1.0	3713	MELANOMA	-	-	-	-	UTP14C	uc001vgb.3,p.N30K|NM_021645,p.N30K|ENST00000521776,p.N30K|uc021rjw.1,p.N30K|uc001vgc.4,p.N30K	protein_coding	uc021rjw.1	nonsynonymous SNV	exon1	c.T90G	p.N30K	LVDLPKNYPLSENEDEGDSDGERKH	LVDLPKNYPLSEKEDEGDSDGERKH	4.0	6.0	unscreened	-	3713_13:52603030-52603030 T>G_LVDLPKNYPLSEKEDEGDSDGERKH
18:5956223-5956223 C>T	0.0	3713	MELANOMA	-	-	-	-	L3MBTL4	ENST00000400105,p.G623E|ENST00000317931,p.G614E|ENST00000535782,p.G427E|uc002kmz.4,p.G623E|uc010dkt.3,p.G623E|uc002kmy.4,p.G614E|NM_173464,p.G623E|ENST00000284898,p.G623E	protein_coding, processed_transcript	uc010dkt.3	nonsynonymous SNV	exon20	c.G1868A	p.G623E	PEEDIASGQEVRG	PEEDIASGQEVRE	3.0	7.0	unscreened	-	3713_18:5956223-5956223 C>T_PEEDIASGQEVRE
1:158577166-158577166 G>A	0.0	3713	MELANOMA	-	-	-	-	OR10Z1	NM_001004478,p.G313E|ENST00000361284,p.G313E|uc010pio.2,p.G313E	protein_coding	uc010pio.2	nonsynonymous SNV	exon1	c.G938A	p.G313E	LRNAFRGRLLGKG	LRNAFRGRLLGKE	1.0	7.0	unscreened	-	3713_1:158577166-158577166 G>A_LRNAFRGRLLGKE
4:147179851-147179851 C>T	1.0	3713	MELANOMA	-	-	-	-	SLC10A7	ENST00000507030,p.R329K|ENST00000394062,p.R329K|uc010ioz.2,p.R329K|NM_001300842,p.R329K	protein_coding, processed_transcript	uc010ioz.2	nonsynonymous SNV	exon11	c.G986A	p.R329K	VLVPTIKSWMVSRQKKLLQTRGPLA	VLVPTIKSWMVSKQKKLLQTRGPLA	4.0	4.0	unscreened	-	3713_4:147179851-147179851 C>T_VLVPTIKSWMVSKQKKLLQTRGPLA
6:116442621-116442621 C>T	0.0	3713	MELANOMA	-	-	-	-	COL10A1	ENST00000327673,p.G220R|uc003pwm.3,p.G220R|ENST00000243222,p.G220R|NM_000493,p.G220R	protein_coding	uc003pwm.3	nonsynonymous SNV	exon3	c.G658A	p.G220R	QGPTGPSGPPGVGKRGENGVPGQPG	QGPTGPSGPPGVRKRGENGVPGQPG	1.0	5.0	unscreened	-	3713_6:116442621-116442621 C>T_QGPTGPSGPPGVRKRGENGVPGQPG
9:105767838-105767838 G>A	0.0	3713	MELANOMA	-	-	-	-	CYLC2	ENST00000374798,p.E309K|NM_001340,p.E309K|uc004bbs.2,p.E309K|ENST00000487798,p.E309K	protein_coding, processed_transcript	uc004bbs.2	nonsynonymous SNV	exon5	c.G925A	p.E309K	TKDAKKVAKKDTEKESADSKKDAKK	TKDAKKVAKKDTKKESADSKKDAKK	1.0	4.0	unscreened	-	3713_9:105767838-105767838 G>A_TKDAKKVAKKDTKKESADSKKDAKK
5:35814644-35814644 G>A	0.0	3713	MELANOMA	-	-	-	-	SPEF2	ENST00000303129,p.E617K|uc003jjo.3,p.E1820K|ENST00000356031,p.E1820K|uc003jjr.3,p.E875K|NM_024867,p.E1820K	retained_intron, protein_coding, nonsense_mediated_decay	uc003jjr.3	nonsynonymous SNV	exon15	c.G2623A	p.E875K	SDGERSPSRHTEEKK	SDGERSPSRHTEKKK	1.0	6.0	unscreened	-	3713_5:35814644-35814644 G>A_SDGERSPSRHTEKKK
18:19019493-19019493 G>A	0.0	3713	MELANOMA	-	-	-	-	GREB1L	uc002ktf.1,p.G282R|ENST00000424526,p.G282R|ENST00000431264,p.G282R|uc010xam.2,p.G282R|NM_001142966,p.G282R|ENST00000400483,p.G282R|uc010dlp.1,p.G282R|ENST00000269218,p.G282R|ENST00000580732,p.G282R	retained_intron, protein_coding, processed_transcript	uc010xam.2	nonsynonymous SNV	exon8	c.G844A	p.G282R	YKSGFTQTDAANGNSSHGGKGSASS	YKSGFTQTDAANRNSSHGGKGSASS	1.0	5.0	unscreened	-	3713_18:19019493-19019493 G>A_YKSGFTQTDAANRNSSHGGKGSASS
X:140995722-140995722 G>C	0.0	3713	MELANOMA	-	-	-	-	MAGEC1	ENST00000285879,p.K844N|uc004fbt.3,p.K844N|NM_005462,p.K844N|uc022cfi.1,p.K503N	protein_coding	uc022cfi.1	nonsynonymous SNV	exon1	c.G1509C	p.K503N	SSFPSSTSSSLSKSSPESPLQSPVI	SSFPSSTSSSLSNSSPESPLQSPVI	1.0	5.0	unscreened	-	3713_X:140995722-140995722 G>C_SSFPSSTSSSLSNSSPESPLQSPVI
5:76173650-76173650 G>A	0.0	3713	MELANOMA	-	-	-	-	S100Z	ENST00000317593,p.G98E|uc003kep.1,p.G98E|uc003keq.4,p.G98E|ENST00000513010,p.G98E|NM_130772,p.G98E	protein_coding	uc003keq.4	nonsynonymous SNV	exon4	c.G293A	p.G98E	CNDYFVEQLKKKGK	CNDYFVEQLKKKEK	1.0	3.0	unscreened	-	3713_5:76173650-76173650 G>A_CNDYFVEQLKKKEK
10:61828590-61828590 C>T	0.0	3713	MELANOMA	-	-	-	-	ANK3	uc001jky.3,p.E4017K|ENST00000280772,p.E4017K|NM_020987,p.E4017K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jky.3	nonsynonymous SNV	exon37	c.G12049A	p.E4017K	GETLKLVDRLSEEEKKMQSELSDEE	GETLKLVDRLSEKEKKMQSELSDEE	4.0	6.0	unscreened	-	3713_10:61828590-61828590 C>T_GETLKLVDRLSEKEKKMQSELSDEE
1:153234161-153234161 G>A	0.0	3713	MELANOMA	-	-	-	-	LOR	uc001fbm.3,p.G246S|uc021ozy.1,p.G246S|ENST00000368742,p.G246S|NM_000427,p.G246S	protein_coding	uc021ozy.1	nonsynonymous SNV	exon1	c.G736A	p.G246S	GSGGSGCFSSGGGGGSSGCGGGSSG	GSGGSGCFSSGGSGGSSGCGGGSSG	1.0	6.0	unscreened	-	3713_1:153234161-153234161 G>A_GSGGSGCFSSGGSGGSSGCGGGSSG
2:166892569-166892569 C>T	0.0	3713	MELANOMA	-	-	ID=COSM1691327,COSM1691328;OCCURENCE=1(skin)	-	SCN1A	ENST00000375405,p.E1129K|uc021vsb.1,p.E1129K|uc010fpk.3,p.E1112K|NM_001202435,p.E1140K|NM_001165964,p.E1112K|ENST00000409050,p.E1112K|ENST00000303395,p.E1140K|ENST00000423058,p.E1140K|NM_001165963,p.E1140K|uc002udo.4,p.E1140K|NM_006920,p.E1129K	retained_intron, protein_coding	uc021vsb.1	nonsynonymous SNV	exon16	c.G3385A	p.E1129K	NTEDFSSESDLEESKEKLNESSSSS	NTEDFSSESDLEKSKEKLNESSSSS	1.0	5.0	unscreened	-	3713_2:166892569-166892569 C>T_NTEDFSSESDLEKSKEKLNESSSSS
10:123970317-123970317 G>A	1.0	3713	MELANOMA	-	-	-	-	TACC2	ENST00000515273,p.R2130Q|ENST00000515603,p.R2081Q|uc001lfz.3,p.R204Q|uc001lfw.3,p.R272Q|NM_206860,p.R204Q|ENST00000369004,p.R204Q|NM_206862,p.R2126Q|uc009xzx.3,p.R2081Q|NM_001291877,p.R2130Q|ENST00000453444,p.R2130Q|NM_001291876,p.R2081Q|uc001lga.3,p.R204Q|uc001lfv.3,p.R2126Q|ENST00000513429,p.R272Q|uc009xzy.3,p.R204Q|ENST00000360561,p.R204Q|NM_001291878,p.R204Q|uc010qtw.1,p.R221Q|ENST00000368999,p.R204Q|ENST00000334433,p.R2126Q|ENST00000369005,p.R2126Q|ENST00000260733,p.R204Q|NM_206861,p.R272Q|ENST00000514539,p.R221Q|uc001lgb.3,p.R161Q|NM_006997,p.R204Q|ENST00000358010,p.R272Q|uc010qtv.2,p.R2130Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qtw.1	nonsynonymous SNV	exon3	c.G662A	p.R221Q	STGSSSASSTLKRTKKPRPPSLKKK	STGSSSASSTLKQTKKPRPPSLKKK	2.0	5.0	unscreened	-	3713_10:123970317-123970317 G>A_STGSSSASSTLKQTKKPRPPSLKKK
9:137779251-137779251 G>A	0.0	3713	MELANOMA	0.0023	-	-	-	FCN2	uc004cfg.1,p.R311Q|NM_004108,p.R311Q|uc004cfh.1,p.R273Q|NM_015837,p.R273Q|ENST00000350339,p.R273Q|ENST00000291744,p.R311Q	protein_coding	uc004cfh.1	nonsynonymous SNV	exon7	c.G818A	p.R273Q	YNYSYKVSEMKVRPA	YNYSYKVSEMKVQPA	1.0	5.0	unscreened	-	3713_9:137779251-137779251 G>A_YNYSYKVSEMKVQPA
3:109046840-109046840 C>T	0.0	3713	MELANOMA	-	-	ID=COSM3408108;OCCURENCE=1(central_nervous_system)	-	DPPA4	NM_018189,p.E304K|ENST00000335658,p.E304K|uc003dxq.4,p.E304K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003dxq.4	nonsynonymous SNV	exon7	c.G910A	p.E304K	HRNKVLIKSLQWE	HRNKVLIKSLQWK	1.0	6.0	unscreened	-	3713_3:109046840-109046840 C>T_HRNKVLIKSLQWK
4:156631863-156631863 G>A	0.0	3713	MELANOMA	-	-	-	-	GUCY1A3	ENST00000443668,p.G136R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000443668	nonsynonymous SNV	exon6	c.G406A	p.G136R	AAEQPLPRSRKKGQA	AAEQPLPRSRKKRQA	4.0	5.0	unscreened	-	3713_4:156631863-156631863 G>A_AAEQPLPRSRKKRQA
4:157684246-157684246 C>T	1.0	3713	MELANOMA	-	-	-	-	PDGFC	uc011cis.2,p.G182E|ENST00000542208,p.G190E|uc003ipi.2,p.G182E|ENST00000422544,p.G282E|uc003iph.2,p.G345E|ENST00000502773,p.G345E|ENST00000541126,p.G182E|NM_016205,p.G345E	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cis.2	nonsynonymous SNV	exon5	c.G545A	p.G182E	EECDCVCRGSTGG	EECDCVCRGSTGE	4.0	6.0	-	-	3713_4:157684246-157684246 C>T_EECDCVCRGSTGE
1:35847180-35847180 C>T	1.0	3716	MELANOMA	-	-	-	-	ZMYM4	NM_005095,p.H464Y|ENST00000373297,p.H464Y|uc009vuv.3,p.H203Y|ENST00000314607,p.H464Y|uc001byu.3,p.H140Y|uc001byt.3,p.H464Y|uc009vuu.3,p.H432Y	protein_coding, processed_transcript	uc009vuv.3	nonsynonymous SNV	exon8	c.C607T	p.H203Y	VIRHEVNYQNVVHKLCSDACFSKFR	VIRHEVNYQNVVYKLCSDACFSKFR	9.0	7.0	CD8	-	3716_1:35847180-35847180 C>T_VIRHEVNYQNVVYKLCSDACFSKFR
19:3062756-3062756 C>T	1.0	3716	MELANOMA	-	-	-	-	AES	NM_198969,p.R57Q|ENST00000221561,p.R57Q|uc002lxb.1,p.R57Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lxb.1	nonsynonymous SNV	exon1	c.G170A	p.R57Q	PGRATAGPAASTRAAGSLFFDRWGN	PGRATAGPAASTQAAGSLFFDRWGN	10.0	8.0	-	-	3716_19:3062756-3062756 C>T_PGRATAGPAASTQAAGSLFFDRWGN
3:141671480-141671480 C>T	1.0	3716	MELANOMA	-	-	-	-	TFDP2	ENST00000397991,p.A378T|ENST00000499676,p.A346T|ENST00000317104,p.A330T|uc003euk.4,p.A378T|uc011bnf.2,p.A309T|ENST00000467072,p.A346T|uc011bng.2,p.A270T|NM_001178141,p.A309T|NM_001178140,p.A378T|ENST00000495310,p.A309T|uc003eun.4,p.A406T|NM_001178139,p.A406T|ENST00000489671,p.A406T|NM_006286,p.A346T|ENST00000477292,p.A270T|ENST00000479040,p.A345T|NM_001178138,p.A346T|uc003eum.4,p.A346T|uc003eul.4,p.A346T|ENST00000310282,p.A346T|NM_001178142,p.A270T|ENST00000486111,p.A346T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bng.2	nonsynonymous SNV	exon8	c.G808A	p.A270T	DAEVALATGQFLAPNSHQSSSAASH	DAEVALATGQFLTPNSHQSSSAASH	6.0	6.0	CD8	-	3716_3:141671480-141671480 C>T_DAEVALATGQFLTPNSHQSSSAASH
1:35476510-35476510 G>A	1.0	3716	MELANOMA	-	-	-	-	ZMYM6	ENST00000373340,p.S397F|uc009vup.3,p.S203F|ENST00000357182,p.S397F|uc009vuq.1,p.S397F|uc009vur.1,p.S203F|NM_007167,p.S397F|uc010oht.2,p.S300F|uc001byf.1,p.S397F|uc001byh.3,p.S397F|ENST00000487874,p.S397F	 nonsense_mediated_decay,protein_coding, processed_transcript	uc010oht.2	nonsynonymous SNV	exon8	c.C899T	p.S300F	AVSIGGGNTSAVSPSSIRGSAAASL	AVSIGGGNTSAVFPSSIRGSAAASL	9.0	7.0	-	-	3716_1:35476510-35476510 G>A_AVSIGGGNTSAVFPSSIRGSAAASL
13:77759284-77759284 G>A	1.0	3716	MELANOMA	-	-	-	-	MYCBP2	ENST00000407578,p.A1558V|uc010aev.3,p.A924V|uc021rks.1,p.A1558V|ENST00000357337,p.A1520V|NM_015057,p.A1558V|ENST00000544440,p.A1520V	protein_coding, processed_transcript	uc021rks.1	nonsynonymous SNV	exon32	c.C4673T	p.A1558V	FTACFHSFYPTPALQWACLCDLLNC	FTACFHSFYPTPVLQWACLCDLLNC	8.0	4.0	-	-	3716_13:77759284-77759284 G>A_FTACFHSFYPTPVLQWACLCDLLNC
21:43412178-43412178 C>G	1.0	3716	MELANOMA	-	-	-	-	ZBTB21	NM_020727,p.G676A|uc021wjo.1,p.G676A|uc002zaa.4,p.G676A|NM_001098402,p.G676A|ENST00000398511,p.G676A|ENST00000398499,p.G676A|ENST00000310826,p.G676A|uc002yzy.4,p.G676A|uc002zab.4,p.G676A	protein_coding, processed_transcript	uc021wjo.1	nonsynonymous SNV	exon1	c.G2027C	p.G676A	SRAKGAYICTYCGKAYRFLSQFKQH	SRAKGAYICTYCAKAYRFLSQFKQH	6.0	7.0	-	-	3716_21:43412178-43412178 C>G_SRAKGAYICTYCAKAYRFLSQFKQH
20:18496337-18496337 C>T	1.0	3716	MELANOMA	-	-	-	-	SEC23B	ENST00000377465,p.A108V|uc010zsb.2,p.A108V|NM_006363,p.A108V|uc002wqz.2,p.A108V|ENST00000336714,p.A108V|uc002wrc.2,p.A108V|NM_032986,p.A108V|ENST00000450074,p.A108V|ENST00000377475,p.A108V|ENST00000262544,p.A108V|NM_001172745,p.A108V|uc002wrb.2,p.A108V|uc002wra.2,p.A108V|NM_001172746,p.A108V|NM_032985,p.A108V	protein_coding, processed_transcript	uc010zsb.2	nonsynonymous SNV	exon4	c.C323T	p.A108V	PAYGGISEVNQPAELMPQFSTIEYV	PAYGGISEVNQPVELMPQFSTIEYV	7.0	8.0	-	-	3716_20:18496337-18496337 C>T_PAYGGISEVNQPVELMPQFSTIEYV
3:113377299-113377299 G>A	1.0	3716	MELANOMA	-	-	-	-	KIAA2018	ENST00000316407,p.S1077F|uc003eal.3,p.S1021F|NM_001009899,p.S1077F|uc003eam.3,p.S1077F|ENST00000478658,p.S1077F	retained_intron, protein_coding	uc003eam.3	nonsynonymous SNV	exon7	c.C3230T	p.S1077F	HSCLPDQEVINGSLINGRQADSPMS	HSCLPDQEVINGFLINGRQADSPMS	6.0	1.0	-	-	3716_3:113377299-113377299 G>A_HSCLPDQEVINGFLINGRQADSPMS
6:102069900-102069900 T>G	1.0	3716	MELANOMA	-	-	-	-	GRIK2	ENST00000369134,p.I15M|uc003pqn.3,p.I64M|NM_021956,p.I64M|ENST00000318991,p.I64M|uc010kcw.3,p.I64M|NM_175768,p.I64M|ENST00000369138,p.I64M|uc003pqo.4,p.I64M|ENST00000369137,p.I64M|ENST00000358361,p.I64M|NM_001166247,p.I64M|ENST00000421544,p.I64M|uc021zdj.1,p.I64M|ENST00000413795,p.I64M|uc003pqp.4,p.I64M|uc021zdk.1,p.I64M	retained_intron, protein_coding	uc021zdk.1	nonsynonymous SNV	exon2	c.T192G	p.I64M	AEELAFRFAVNTINRNRTLLPNTTL	AEELAFRFAVNTMNRNRTLLPNTTL	6.0	9.0	-	-	3716_6:102069900-102069900 T>G_AEELAFRFAVNTMNRNRTLLPNTTL
1:150305652-150305652 C>T	1.0	3716	MELANOMA	-	-	-	-	PRPF3	uc001eum.4,p.A237V|uc010pca.2,p.A196V|ENST00000414970,p.A188V|ENST00000324862,p.A237V|ENST00000543398,p.A102V|NM_004698,p.A237V|uc010pcb.2,p.A188V	protein_coding, processed_transcript	uc010pcb.2	nonsynonymous SNV	exon5	c.C563T	p.A188V	GNANMVGLANLHAMGIAPPKVELKD	GNANMVGLANLHVMGIAPPKVELKD	10.0	5.0	-	-	3716_1:150305652-150305652 C>T_GNANMVGLANLHVMGIAPPKVELKD
9:123912703-123912703 C>T	1.0	3716	MELANOMA	-	-	-	1	CNTRL	uc004bky.1,p.S906F|uc004bla.1,p.S750F|ENST00000373850,p.S750F|NM_007018,p.S1302F|ENST00000373855,p.S1302F|ENST00000238341,p.S1302F|ENST00000373847,p.S750F|uc004bkx.1,p.S1302F	protein_coding, processed_transcript	uc004bla.1	nonsynonymous SNV	exon14	c.C2249T	p.S750F	APMVYGPPPPNFSIPFIPMGVLHCN	APMVYGPPPPNFFIPFIPMGVLHCN	6.0	10.0	-	-	3716_9:123912703-123912703 C>T_APMVYGPPPPNFFIPFIPMGVLHCN
4:998128-998128 C>T	1.0	3716	MELANOMA	-	-	-	-	IDUA	ENST00000247933,p.P637S|NM_000203,p.P637S|ENST00000453894,p.P659S|uc003gby.3,p.P637S|ENST00000514224,p.P505S|uc003gca.3,p.P659S	retained_intron, protein_coding, processed_transcript	uc003gca.3	nonsynonymous SNV	exon11	c.C1975T	p.P659S	YWARPGPFSDPVPYLEVPVPRGPPS	YWARPGPFSDPVSYLEVPVPRGPPS	5.0	10.0	-	-	3716_4:998128-998128 C>T_YWARPGPFSDPVSYLEVPVPRGPPS
7:151873402-151873402 G>A	1.0	3716	MELANOMA	-	-	-	1	KMT2C	ENST00000262189,p.L3046F|uc003wkz.3,p.L2107F|uc003wla.3,p.L3046F|NM_170606,p.L3046F|uc003wky.3,p.L555F|ENST00000355193,p.L3046F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003wla.3	nonsynonymous SNV	exon38	c.C9136T	p.L3046F	PQTLAQQNRERPLLLEEQPLLLQDL	PQTLAQQNRERPFLLEEQPLLLQDL	9.0	2.0	-	-	3716_7:151873402-151873402 G>A_PQTLAQQNRERPFLLEEQPLLLQDL
9:32541506-32541506 G>A	1.0	3716	MELANOMA	-	-	-	-	TOPORS	NM_001195622,p.S941F|NM_005802,p.S1006F|ENST00000360538,p.S1006F|ENST00000379858,p.S941F|uc003zrb.3,p.S1006F|uc003zrc.3,p.S941F	protein_coding	uc003zrc.3	nonsynonymous SNV	exon2	c.C2822T	p.S941F	QTLDVREESTFVSDLENQPSNIVSL	QTLDVREESTFVFDLENQPSNIVSL	8.0	7.0	-	-	3716_9:32541506-32541506 G>A_QTLDVREESTFVFDLENQPSNIVSL
9:79820250-79820250 C>T	1.0	3716	MELANOMA	-	-	-	-	VPS13A	NM_001018038,p.P70L|ENST00000360280,p.P70L|NM_015186,p.P70L|NM_001018037,p.P70L|ENST00000357409,p.P70L|uc004akp.4,p.P70L|ENST00000376634,p.P70L|ENST00000376636,p.P70L|uc004akq.4,p.P70L|NM_033305,p.P70L|uc004aks.3,p.P70L|uc004akr.3,p.P70L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004aks.3	nonsynonymous SNV	exon4	c.C209T	p.P70L	KVGHIGNLKLIIPWKNLYTQPVEAV	KVGHIGNLKLIILWKNLYTQPVEAV	7.0	6.0	-	-	3716_9:79820250-79820250 C>T_KVGHIGNLKLIILWKNLYTQPVEAV
4:113353153-113353153 C>A	1.0	3716	MELANOMA	-	-	-	-	ALPK1	NM_025144,p.P817Q|uc011cfx.2,p.P739Q|ENST00000504176,p.P739Q|ENST00000458497,p.P817Q|uc003iap.4,p.P817Q|uc010imo.3,p.P645Q|ENST00000177648,p.P817Q|NM_001102406,p.P817Q|uc003ian.4,p.P817Q|NM_001253884,p.P739Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cfx.2	nonsynonymous SNV	exon10	c.C2216A	p.P739Q	VLHNSLGNISMLPCSSFTPNWPVQN	VLHNSLGNISMLQCSSFTPNWPVQN	9.0	3.0	-	-	3716_4:113353153-113353153 C>A_VLHNSLGNISMLQCSSFTPNWPVQN
9:79820249-79820249 C>T	1.0	3716	MELANOMA	-	-	-	-	VPS13A	ENST00000376636,p.P70S|uc004akp.4,p.P70S|NM_001018037,p.P70S|NM_033305,p.P70S|ENST00000376634,p.P70S|uc004akq.4,p.P70S|uc004akr.3,p.P70S|ENST00000357409,p.P70S|NM_015186,p.P70S|ENST00000360280,p.P70S|uc004aks.3,p.P70S|NM_001018038,p.P70S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004aks.3	nonsynonymous SNV	exon4	c.C208T	p.P70S	KVGHIGNLKLIIPWKNLYTQPVEAV	KVGHIGNLKLIISWKNLYTQPVEAV	7.0	6.0	-	-	3716_9:79820249-79820249 C>T_KVGHIGNLKLIISWKNLYTQPVEAV
9:16435575-16435575 G>A	1.0	3716	MELANOMA	-	-	-	-	BNC2	ENST00000484726,p.P873S|ENST00000380666,p.P873S	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000484726	nonsynonymous SNV	exon6	c.C2617T	p.P873S	HVCTVAGCNAAFPSRRSRDRYWEKS	HVCTVAGCNAAFSSRRSRDRYWEKS	9.0	10.0	-	-	3716_9:16435575-16435575 G>A_HVCTVAGCNAAFSSRRSRDRYWEKS
10:121411321-121411321 G>A	1.0	3716	MELANOMA	-	-	-	-	BAG3	uc001lem.3,p.R45H|NM_004281,p.R45H|uc001lel.3,p.R45H|ENST00000369085,p.R45H	protein_coding	uc001lem.3	nonsynonymous SNV	exon1	c.G134A	p.R45H	QTGWPFFVDHNSRTTTWNDPRVPSE	QTGWPFFVDHNSHTTTWNDPRVPSE	8.0	3.0	-	-	3716_10:121411321-121411321 G>A_QTGWPFFVDHNSHTTTWNDPRVPSE
5:150029015-150029015 C>T	1.0	3716	MELANOMA	-	-	-	-	SYNPO	NM_001109974,p.P393L|ENST00000522122,p.P637L|NM_001166209,p.P637L|uc003lsp.3,p.P393L|NM_001166208,p.P637L|NM_007286,p.P393L|uc021yfv.1,p.P393L|uc003lsn.3,p.P637L|uc003lso.4,p.P393L|ENST00000519664,p.P393L|ENST00000394243,p.P637L|ENST00000307662,p.P393L|uc021yfu.1,p.P637L	protein_coding, processed_transcript	uc021yfv.1	nonsynonymous SNV	exon1	c.C1178T	p.P393L	FTFVEKPKVTPNPDLLDLVQTADEK	FTFVEKPKVTPNLDLLDLVQTADEK	8.0	6.0	-	-	3716_5:150029015-150029015 C>T_FTFVEKPKVTPNLDLLDLVQTADEK
17:7498072-7498072 G>C	1.0	3716	MELANOMA	-	-	-	-	FXR2	NM_004860,p.P279A|uc002gia.2,p.P279A|ENST00000250113,p.P279A	retained_intron, protein_coding, processed_transcript	uc002gia.2	nonsynonymous SNV	exon9	c.C835G	p.P279A	EETCTFRIYGETPEACRQARSYLEF	EETCTFRIYGETAEACRQARSYLEF	6.0	8.0	-	-	3716_17:7498072-7498072 G>C_EETCTFRIYGETAEACRQARSYLEF
17:1340236-1340236 G>A	1.0	3716	MELANOMA	-	-	-	-	CRK	NM_016823,p.P152L|uc002fsm.3,p.P152L|uc002fsl.3,p.P152L|ENST00000398970,p.P152L|NM_005206,p.P152L|ENST00000300574,p.P152L	protein_coding, processed_transcript	uc002fsm.3	nonsynonymous SNV	exon2	c.C455T	p.P152L	LFDFNGNDEEDLPFKKGDILRIRDK	LFDFNGNDEEDLLFKKGDILRIRDK	9.0	5.0	-	-	3716_17:1340236-1340236 G>A_LFDFNGNDEEDLLFKKGDILRIRDK
6:34802155-34802155 C>T	1.0	3716	MELANOMA	-	-	-	-	UHRF1BP1	ENST00000452449,p.T167I|NM_017754,p.T167I|uc003oju.4,p.T167I|ENST00000192788,p.T167I	protein_coding	uc003oju.4	nonsynonymous SNV	exon5	c.C500T	p.T167I	VNPNWQQSDLRLTRITDPCRGEVLT	VNPNWQQSDLRLIRITDPCRGEVLT	6.0	3.0	-	-	3716_6:34802155-34802155 C>T_VNPNWQQSDLRLIRITDPCRGEVLT
12:50746918-50746918 G>A	0.0	3716	MELANOMA	-	-	-	-	FAM186A	uc010smt.1,p.L1011F|NM_001145475,p.L1233F|ENST00000327337,p.L1233F|uc001rwl.2,p.L1233F|ENST00000543111,p.L1233F	protein_coding, nonsense_mediated_decay	uc010smt.1	nonsynonymous SNV	exon1	c.C3031T	p.L1011F	PQQAQALGITLTLQQAQQLGIPLTP	PQQAQALGITLTFQQAQQLGIPLTP	1.0	2.0	unscreened	-	3716_12:50746918-50746918 G>A_PQQAQALGITLTFQQAQQLGIPLTP
15:42457200-42457200 G>A	1.0	3716	MELANOMA	-	-	-	-	VPS39	ENST00000318006,p.P631S|uc001zpd.3,p.P642S|NM_015289,p.P631S|ENST00000348544,p.P642S|uc001zpc.3,p.P631S|NM_001301138,p.P642S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zpd.3	nonsynonymous SNV	exon19	c.C1924T	p.P642S	VQGLMKEYLLSFPAGKTPVPAGEEE	VQGLMKEYLLSFSAGKTPVPAGEEE	8.0	4.0	-	-	3716_15:42457200-42457200 G>A_VQGLMKEYLLSFSAGKTPVPAGEEE
9:140400484-140400484 C>T	1.0	3716	MELANOMA	-	-	-	-	PNPLA7	NM_001098537,p.R426K|uc004cnf.2,p.R401K|uc010ncj.1,p.R426K|ENST00000434090,p.R392K|ENST00000406427,p.R426K|NM_152286,p.R401K|ENST00000277531,p.R401K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ncj.1	nonsynonymous SNV	exon13	c.G1277A	p.R426K	ATSDLGMACDRARVFLHSDEHPGSS	ATSDLGMACDRAKVFLHSDEHPGSS	3.0	8.0	-	-	3716_9:140400484-140400484 C>T_ATSDLGMACDRAKVFLHSDEHPGSS
7:140453136-140453136 A>T	1.0	3716	MELANOMA	-	-	ID=COSM476;OCCURENCE=3(adrenal_gland),3(urinary_tract),4(genital_tract),7(pancreas),16(liver),68(eye),2(prostate),4161(large_intestine),21(biliary_tract),11(breast),4377(skin),9(small_intestine),1(autonomic_ganglia),20(pituitary),242(ovary),32(soft_tissue),7(testis),459(haematopoietic_and_lymphoid_tissue),9534(thyroid),78(lung),1(meninges),12(upper_aerodigestive_tract),717(NS),15(bone),2(oesophagus),4(stomach),228(central_nervous_system)	1	BRAF	ENST00000479537,p.V28E|NM_004333,p.V600E|uc003vwc.4,p.V600E|ENST00000288602,p.V600E	retained_intron, protein_coding, nonsense_mediated_decay	uc003vwc.4	nonsynonymous SNV	exon15	c.T1799A	p.V600E	LTVKIGDFGLATVKSRWSGSHQFEQ	LTVKIGDFGLATEKSRWSGSHQFEQ	8.0	8.0	-	-	3716_7:140453136-140453136 A>T_LTVKIGDFGLATEKSRWSGSHQFEQ
18:55361815-55361815 G>T	0.0	3716	MELANOMA	-	-	-	-	ATP8B1	ENST00000283684,p.T343K|ENST00000536015,p.T343K|NM_005603,p.T343K|uc002lgw.3,p.T343K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002lgw.3	nonsynonymous SNV	exon11	c.C1028A	p.T343K	TKIDYLMNYMVYTIFVVLILLSAGL	TKIDYLMNYMVYKIFVVLILLSAGL	5.0	6.0	unscreened	-	3716_18:55361815-55361815 G>T_TKIDYLMNYMVYKIFVVLILLSAGL
20:47736572-47736572 A>G	1.0	3716	MELANOMA	-	-	-	-	STAU1	NM_001037328,p.F279L|ENST00000371792,p.F271L|uc002xuf.3,p.F279L|NM_004602,p.F273L|ENST00000360426,p.F273L|uc002xub.3,p.F279L|NM_017452,p.F273L|ENST00000371828,p.F279L|ENST00000347458,p.F273L|uc002xuc.3,p.F273L|NM_017453,p.F354L|ENST00000340954,p.F273L|uc002xua.3,p.F273L|uc002xug.3,p.F354L|NM_017454,p.F273L|ENST00000371802,p.F279L|uc002xud.3,p.F354L|ENST00000371856,p.F354L|uc002xue.3,p.F273L	protein_coding	uc002xug.3	nonsynonymous SNV	exon9	c.T1060C	p.F354L	RNAAENMLEILGFKVPQAQPTKPAL	RNAAENMLEILGLKVPQAQPTKPAL	10.0	1.0	-	-	3716_20:47736572-47736572 A>G_RNAAENMLEILGLKVPQAQPTKPAL
5:38496619-38496619 G>A	1.0	3716	MELANOMA	-	-	-	1	LIFR	ENST00000263409,p.L584F|NM_001127671,p.L584F|uc010ive.1,p.L584F|NM_002310,p.L584F|uc003jli.2,p.L584F|ENST00000453190,p.L584F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ive.1	nonsynonymous SNV	exon13	c.C1750T	p.L584F	NVSCSSDEETQSLSEIPDPQHKAEI	NVSCSSDEETQSFSEIPDPQHKAEI	7.0	4.0	-	-	3716_5:38496619-38496619 G>A_NVSCSSDEETQSFSEIPDPQHKAEI
7:70246739-70246739 G>A	1.0	3716	MELANOMA	-	-	-	-	AUTS2	uc003tvx.4,p.A691T|ENST00000342771,p.A715T|uc003tvw.4,p.A715T|ENST00000406775,p.A691T|NM_015570,p.A715T|uc011keg.2,p.A167T|NM_001127231,p.A691T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011keg.2	nonsynonymous SNV	exon7	c.G499A	p.A167T	HDLARPSTLFSAAGAAHPTGTPFGP	HDLARPSTLFSATGAAHPTGTPFGP	8.0	3.0	-	-	3716_7:70246739-70246739 G>A_HDLARPSTLFSATGAAHPTGTPFGP
9:79966297-79966297 C>T	1.0	3716	MELANOMA	-	-	-	-	VPS13A	ENST00000360280,p.P2452S|uc004akq.4,p.P2452S|uc004aks.3,p.P2413S|NM_001018037,p.P2413S|uc004akp.4,p.P2452S|NM_001018038,p.P2452S|ENST00000376634,p.P2452S|NM_033305,p.P2452S|uc004akr.3,p.P2452S|NM_015186,p.P2452S|ENST00000376636,p.P2413S|ENST00000357409,p.P2452S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004aks.3	nonsynonymous SNV	exon52	c.C7237T	p.P2413S	PPGKAVFYTWADPVGSRRLKWRCRK	PPGKAVFYTWADSVGSRRLKWRCRK	7.0	10.0	-	-	3716_9:79966297-79966297 C>T_PPGKAVFYTWADSVGSRRLKWRCRK
18:5397280-5397280 G>A	0.0	3716	MELANOMA	-	-	-	-	EPB41L3	uc010dkq.1,p.S542L|uc010wzf.1,p.S170L|ENST00000342933,p.S873L|uc010wze.1,p.S178L|ENST00000540638,p.S651L|NM_012307,p.S873L|uc010dkr.2,p.S265L|uc002kms.1,p.S108L|ENST00000544123,p.S704L|uc002kmt.1,p.S873L|NM_001281534,p.S651L|ENST00000427684,p.S170L|uc010wzh.1,p.S704L|uc010wzg.1,p.S145L|NM_001281533,p.S704L|ENST00000542146,p.S178L|NM_001281535,p.S542L|uc002kmu.1,p.S651L|ENST00000341928,p.S873L|ENST00000400111,p.S651L	retained_intron, protein_coding, processed_transcript	uc010wzh.1	nonsynonymous SNV	exon17	c.C2111T	p.S704L	RRVVHASGDASYSAGDSGDAAAQPA	RRVVHASGDASYLAGDSGDAAAQPA	9.0	2.0	unscreened	-	3716_18:5397280-5397280 G>A_RRVVHASGDASYLAGDSGDAAAQPA
3:25679659-25679659 T>C	0.0	3716	MELANOMA	-	-	-	-	TOP2B	ENST00000264331,p.T180A|NM_001068,p.T175A|uc011awn.1,p.T180A|ENST00000435706,p.T175A|ENST00000424225,p.T175A|uc021wug.1,p.T175A|uc003cdj.3,p.T175A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wug.1	nonsynonymous SNV	exon6	c.A523G	p.T175A	TSSNYDDDEKKVTGGRNGYGAKLCN	TSSNYDDDEKKVAGGRNGYGAKLCN	9.0	1.0	unscreened	-	3716_3:25679659-25679659 T>C_TSSNYDDDEKKVAGGRNGYGAKLCN
14:45693418-45693418 G>A	1.0	3716	MELANOMA	-	-	-	-	MIS18BP1	ENST00000310806,p.T791I|NM_018353,p.T791I|uc001wwf.3,p.T791I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wwf.3	nonsynonymous SNV	exon11	c.C2372T	p.T791I	EKEIKRKAEVKKTKAGNTKEAVVHL	EKEIKRKAEVKKIKAGNTKEAVVHL	8.0	9.0	-	-	3716_14:45693418-45693418 G>A_EKEIKRKAEVKKIKAGNTKEAVVHL
3:42242434-42242434 T>C	0.0	3716	MELANOMA	-	-	-	-	TRAK1	uc011azj.3,p.S365P|uc003ckz.5,p.S365P|NM_014965,p.S381P|NM_001265609,p.S365P|NM_001265608,p.S439P|ENST00000396175,p.S381P|ENST00000327628,p.S439P|ENST00000449246,p.S365P|ENST00000341421,p.S381P|NM_001042646,p.S439P|ENST00000427771,p.S157P|uc003cla.4,p.S381P|uc011azi.3,p.S439P|uc003cky.4,p.S439P|NM_001265610,p.S365P|uc011azh.3,p.S439P	protein_coding, processed_transcript, nonsense_mediated_decay	uc011azj.3	nonsynonymous SNV	exon11	c.T1093C	p.S365P	GSNQSSAMNSLLSSCVSTPRSSFYG	GSNQSSAMNSLLPSCVSTPRSSFYG	8.0	1.0	unscreened	-	3716_3:42242434-42242434 T>C_GSNQSSAMNSLLPSCVSTPRSSFYG
15:78882677-78882677 A>T	1.0	3716	MELANOMA	-	-	-	-	CHRNA5	NM_000745,p.E315V|ENST00000299565,p.E315V|uc002bdy.3,p.E315V	protein_coding	uc002bdy.3	nonsynonymous SNV	exon5	c.A944T	p.E315V	IPSSSKVIPLIGEYLVFTMIFVTLS	IPSSSKVIPLIGVYLVFTMIFVTLS	4.0	5.0	-	-	3716_15:78882677-78882677 A>T_IPSSSKVIPLIGVYLVFTMIFVTLS
X:105011308-105011308 C>T	0.0	3716	MELANOMA	-	-	-	-	IL1RAPL2	ENST00000372582,p.S572F|uc004elz.1,p.S572F|ENST00000344799,p.S572F|NM_017416,p.S572F|ENST00000538500,p.S177F	protein_coding, processed_transcript	uc004elz.1	nonsynonymous SNV	exon11	c.C1715T	p.S572F	KKEMLPRCHVLDSAEQGLFGELQPI	KKEMLPRCHVLDFAEQGLFGELQPI	1.0	10.0	unscreened	-	3716_X:105011308-105011308 C>T_KKEMLPRCHVLDFAEQGLFGELQPI
7:55606341-55606341 C>T	0.0	3716	MELANOMA	-	-	-	-	VOPP1	NM_001284283,p.E4K|ENST00000545390,p.E4K|uc010kzh.3,p.E4K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kzh.3	nonsynonymous SNV	exon1	c.G10A	p.E4K	MLSETLGYLSSVLLQC	MLSKTLGYLSSVLLQC	8.0	1.0	unscreened	-	3716_7:55606341-55606341 C>T_MLSKTLGYLSSVLLQC
12:57579595-57579595 C>T	1.0	3716	MELANOMA	-	-	ID=COSM1299706;OCCURENCE=1(urinary_tract)	-	LRP1	uc001snd.3,p.P2249S|ENST00000243077,p.P2249S|NM_002332,p.P2249S	retained_intron, protein_coding, processed_transcript	uc001snd.3	nonsynonymous SNV	exon41	c.C6745T	p.P2249S	IALAFDYRAGTSPGTPNRIFFSDIH	IALAFDYRAGTSSGTPNRIFFSDIH	8.0	6.0	-	-	3716_12:57579595-57579595 C>T_IALAFDYRAGTSSGTPNRIFFSDIH
17:1340237-1340237 G>A	1.0	3716	MELANOMA	-	-	-	-	CRK	ENST00000300574,p.P152S|ENST00000398970,p.P152S|NM_016823,p.P152S|NM_005206,p.P152S|uc002fsl.3,p.P152S|uc002fsm.3,p.P152S	protein_coding, processed_transcript	uc002fsm.3	nonsynonymous SNV	exon2	c.C454T	p.P152S	LFDFNGNDEEDLPFKKGDILRIRDK	LFDFNGNDEEDLSFKKGDILRIRDK	9.0	5.0	-	-	3716_17:1340237-1340237 G>A_LFDFNGNDEEDLSFKKGDILRIRDK
9:16435575-16435575 G>A	1.0	3716	MELANOMA	-	-	-	-	BNC2	uc011lmv.2,p.P699S	protein_coding, processed_transcript, nonsense_mediated_decay	uc011lmv.2	nonsynonymous SNV	exon3	c.C2095T	p.P699S	HVCTVAGCNAAFPSRRSRDSKRLES	HVCTVAGCNAAFSSRRSRDSKRLES	9.0	10.0	-	-	3716_9:16435575-16435575 G>A_HVCTVAGCNAAFSSRRSRDSKRLES
15:54306878-54306878 G>A	0.0	3716	MELANOMA	-	-	-	-	UNC13C	ENST00000545554,p.G593E|NM_001080534,p.G593E|ENST00000260323,p.G593E|uc021smr.1,p.G593E|ENST00000537900,p.G593E|uc021sms.1,p.G593E	retained_intron, protein_coding	uc021sms.1	nonsynonymous SNV	exon1	c.G1778A	p.G593E	SSDRELWQRKQEGTATLYDSPKDQH	SSDRELWQRKQEETATLYDSPKDQH	1.0	1.0	unscreened	-	3716_15:54306878-54306878 G>A_SSDRELWQRKQEETATLYDSPKDQH
12:29598236-29598236 T>C	0.0	3716	MELANOMA	-	-	-	-	OVCH1	uc001rix.1,p.I952M|NM_183378,p.I952M|ENST00000318184,p.I952M	protein_coding, nonsense_mediated_decay	uc001rix.1	nonsynonymous SNV	exon23	c.A2856G	p.I952M	VTFHALVRGAFGISYIVLKVLGPKD	VTFHALVRGAFGMSYIVLKVLGPKD	1.0	1.0	unscreened	-	3716_12:29598236-29598236 T>C_VTFHALVRGAFGMSYIVLKVLGPKD
6:36993665-36993665 G>A	0.0	3716	MELANOMA	-	-	-	-	FGD2	ENST00000274963,p.G519E|NM_173558,p.G519E|uc010jwp.1,p.G519E|uc011dtv.1,p.G147E|uc003onj.1,p.G96E|uc003ong.2,p.G241E	retained_intron, protein_coding, nonsense_mediated_decay	uc011dtv.1	nonsynonymous SNV	exon12	c.G440A	p.G147E	NRVCLHCYAFLTGNVLPEAKEDKRR	NRVCLHCYAFLTENVLPEAKEDKRR	5.0	4.0	unscreened	-	3716_6:36993665-36993665 G>A_NRVCLHCYAFLTENVLPEAKEDKRR
3:55513368-55513368 G>A	0.0	3716	MELANOMA	-	-	-	-	WNT5A	uc010hmx.4,p.S33F|ENST00000482079,p.S107F|ENST00000264634,p.S122F|NM_001256105,p.S107F|NM_003392,p.S122F|ENST00000497027,p.S107F|uc003dhm.3,p.S107F|ENST00000474267,p.S122F|uc010hmw.4,p.S107F|uc003dhn.4,p.S122F	retained_intron, protein_coding, processed_transcript	uc010hmx.4	nonsynonymous SNV	exon3	c.C98T	p.S33F	HRRWNCSTVDNTSVFGRVMQIGSRE	HRRWNCSTVDNTFVFGRVMQIGSRE	3.0	10.0	unscreened	-	3716_3:55513368-55513368 G>A_HRRWNCSTVDNTFVFGRVMQIGSRE
19:6924789-6924789 G>A	0.0	3716	MELANOMA	-	-	-	-	EMR1	ENST00000381404,p.R579Q|ENST00000381407,p.R490Q|NM_001256254,p.R490Q|NM_001256255,p.R454Q|NM_001974,p.R631Q|uc010dvb.4,p.R579Q|uc010xji.3,p.R490Q|NM_001256252,p.R579Q|ENST00000312053,p.R631Q|uc010xjj.3,p.R454Q|ENST00000450315,p.R454Q|uc002mfw.4,p.R631Q	retained_intron, protein_coding, processed_transcript	uc010xjj.3	nonsynonymous SNV	exon12	c.G1361A	p.R454Q	LAIATFLLCRSIRNHNTYLHLHLCV	LAIATFLLCRSIQNHNTYLHLHLCV	1.0	9.0	unscreened	-	3716_19:6924789-6924789 G>A_LAIATFLLCRSIQNHNTYLHLHLCV
6:139159592-139159592 C>T	0.0	3716	MELANOMA	-	-	-	2	ECT2L	uc021zfx.1,p.P95S|NM_001195037,p.P95S|NM_001077706,p.P95S|uc003qif.2,p.P95S|ENST00000367682,p.P95S|ENST00000423192,p.P95S|uc011edq.1,p.P26S|ENST00000541398,p.P26S	protein_coding, processed_transcript	uc021zfx.1	nonsynonymous SNV	exon4	c.C283T	p.P95S	RFISLYIFSFLSPKDLCAAAQVSWP	RFISLYIFSFLSSKDLCAAAQVSWP	1.0	9.0	unscreened	-	3716_6:139159592-139159592 C>T_RFISLYIFSFLSSKDLCAAAQVSWP
1:57347136-57347136 G>T	0.0	3716	MELANOMA	-	-	-	-	C8A	NM_000562,p.Q161H|uc001cyo.2,p.Q161H|ENST00000361249,p.Q161H	protein_coding	uc001cyo.2	nonsynonymous SNV	exon5	c.G483T	p.Q161H	SQKAALGYNILTQEDAQSVYDASYY	SQKAALGYNILTHEDAQSVYDASYY	1.0	10.0	unscreened	-	3716_1:57347136-57347136 G>T_SQKAALGYNILTHEDAQSVYDASYY
1:201047173-201047173 C>T	0.0	3716	MELANOMA	-	-	ID=COSM2155290;OCCURENCE=1(central_nervous_system)	-	CACNA1S	ENST00000367338,p.G485R|uc001gvv.3,p.G485R|ENST00000362061,p.G485R|NM_000069,p.G485R	protein_coding	uc001gvv.3	nonsynonymous SNV	exon11	c.G1453A	p.G485R	SLFTTEMLMKMYGLGLRQYFMSIFN	SLFTTEMLMKMYRLGLRQYFMSIFN	1.0	4.0	unscreened	-	3716_1:201047173-201047173 C>T_SLFTTEMLMKMYRLGLRQYFMSIFN
9:14759807-14759807 C>T	0.0	3716	MELANOMA	-	-	-	-	FREM1	ENST00000380894,p.R302K|ENST00000427623,p.R179K|NM_001177704,p.R302K|uc003zll.3,p.R302K|ENST00000380881,p.R1767K|ENST00000380880,p.R1766K|uc003zlm.3,p.R1766K|NM_144966,p.R1766K|ENST00000422223,p.R1766K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zlm.3	nonsynonymous SNV	exon29	c.G5297A	p.R1766K	ENVGLLPLEIIRRGYSMDSAFVGIK	ENVGLLPLEIIRKGYSMDSAFVGIK	4.0	9.0	unscreened	-	3716_9:14759807-14759807 C>T_ENVGLLPLEIIRKGYSMDSAFVGIK
9:127912080-127912080 G>A	1.0	3716	MELANOMA	-	-	ID=COSM221754,COSM1151204;OCCURENCE=1(lung),3(NS),11(skin)	1	PPP6C	ENST00000415905,p.R242C|NM_001123369,p.R242C|uc010mww.3,p.R242C|ENST00000373546,p.R117C|uc004bpg.4,p.R264C|NM_001123355,p.R301C|ENST00000451402,p.R301C|ENST00000373547,p.R264C|uc011lzr.2,p.R117C|NM_002721,p.R264C|uc010mwv.3,p.R301C	protein_coding	uc011lzr.2	nonsynonymous SNV	exon5	c.C349T	p.R117C	LVTVWSAPNYCYRCGNIASIMVFKD	LVTVWSAPNYCYCCGNIASIMVFKD	8.0	9.0	-	-	3716_9:127912080-127912080 G>A_LVTVWSAPNYCYCCGNIASIMVFKD
12:52946537-52946537 C>T	0.0	3716	MELANOMA	-	-	-	-	KRT71	ENST00000267119,p.E109K|NM_033448,p.E109K|uc001sao.3,p.E109K	protein_coding	uc001sao.3	nonsynonymous SNV	exon1	c.G325A	p.E109K	CPPGGIHQVTVNESLLAPLNVELDP	CPPGGIHQVTVNKSLLAPLNVELDP	1.0	2.0	unscreened	-	3716_12:52946537-52946537 C>T_CPPGGIHQVTVNKSLLAPLNVELDP
12:117665250-117665250 G>A	0.0	3716	MELANOMA	-	-	ID=COSM3954246;OCCURENCE=1(lung)	-	NOS1	NM_001204214,p.S865F|NM_001204213,p.S865F|ENST00000338101,p.S1235F|uc001twn.2,p.S1235F|ENST00000317775,p.S1201F|NM_001204218,p.S1235F|uc021reo.1,p.S865F|NM_000620,p.S1201F|uc021ren.1,p.S865F|uc001twm.2,p.S1201F	protein_coding, processed_transcript	uc021reo.1	nonsynonymous SNV	exon22	c.C2594T	p.S865F	YPDEVHLTVAIVSYRTRDGEGPIHH	YPDEVHLTVAIVFYRTRDGEGPIHH	1.0	4.0	unscreened	-	3716_12:117665250-117665250 G>A_YPDEVHLTVAIVFYRTRDGEGPIHH
1:197390688-197390688 C>T	0.0	3716	MELANOMA	-	-	-	-	CRB1	NM_001193640,p.A465V|ENST00000535699,p.A508V|ENST00000367399,p.A465V|ENST00000367400,p.A577V|uc010ppd.2,p.A58V|ENST00000538660,p.A577V|uc010poz.2,p.A508V|NM_001257965,p.A508V|NM_201253,p.A577V|ENST00000484075,p.A577V|uc009wza.3,p.A465V|uc010ppb.2,p.A577V|NM_001257966,p.A577V|uc001gub.1,p.A226V|uc001gtz.3,p.A577V|ENST00000544212,p.A58V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ppd.2	nonsynonymous SNV	exon2	c.C173T	p.A58V	GEWHFVEVIFAEAVTLTLIDDSCKE	GEWHFVEVIFAEVVTLTLIDDSCKE	3.0	4.0	unscreened	-	3716_1:197390688-197390688 C>T_GEWHFVEVIFAEVVTLTLIDDSCKE
19:17547340-17547340 C>T	0.0	3716	MELANOMA	-	-	-	-	TMEM221	NM_001190844,p.G268E|uc021uqh.1,p.G268E|ENST00000341130,p.G268E	retained_intron, protein_coding	uc021uqh.1	nonsynonymous SNV	exon3	c.G803A	p.G268E	HRTLSAGLGHWDGVTHEMRRMLGHR	HRTLSAGLGHWDEVTHEMRRMLGHR	1.0	5.0	unscreened	-	3716_19:17547340-17547340 C>T_HRTLSAGLGHWDEVTHEMRRMLGHR
11:57080598-57080598 C>T	1.0	3716	MELANOMA	-	-	-	-	TNKS1BP1	uc001njr.3,p.E522K|uc001njs.3,p.E522K|NM_033396,p.E522K|ENST00000532437,p.E522K|ENST00000358252,p.E522K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001njs.3	nonsynonymous SNV	exon5	c.G1564A	p.E522K	AEAGNLAVSSREEGVSQQGQGAGSA	AEAGNLAVSSREKGVSQQGQGAGSA	7.0	9.0	-	-	3716_11:57080598-57080598 C>T_AEAGNLAVSSREKGVSQQGQGAGSA
17:30615913-30615913 C>G	0.0	3716	MELANOMA	-	-	-	-	RHBDL3	NM_138328,p.Q133E|uc002hhf.1,p.Q35E|uc002hhe.1,p.Q133E|uc010csw.1,p.Q125E|uc010csx.1,p.Q133E|ENST00000538145,p.Q125E|ENST00000431505,p.Q133E|uc010csy.1,p.Q35E|ENST00000269051,p.Q133E|ENST00000536287,p.Q35E	retained_intron, protein_coding, nonsense_mediated_decay	uc010csy.1	nonsynonymous SNV	exon4	c.C103G	p.Q35E	KALLEEKGLSLSQRLIRHVAYETLP	KALLEEKGLSLSERLIRHVAYETLP	2.0	4.0	unscreened	-	3716_17:30615913-30615913 C>G_KALLEEKGLSLSERLIRHVAYETLP
12:55714592-55714592 C>T	0.0	3716	MELANOMA	-	-	ID=COSM941263;OCCURENCE=1(endometrium),2(large_intestine),3(skin)	-	OR6C1	NM_001005182,p.S70L|uc010spi.2,p.S70L|ENST00000379668,p.S70L	protein_coding	uc010spi.2	nonsynonymous SNV	exon1	c.C209T	p.S70L	YFFLRNFSILEISFTTVSIPKFLGN	YFFLRNFSILEILFTTVSIPKFLGN	1.0	1.0	unscreened	-	3716_12:55714592-55714592 C>T_YFFLRNFSILEILFTTVSIPKFLGN
19:36370046-36370046 C>T	0.0	3716	MELANOMA	-	-	-	-	APLP1	uc010xta.2,p.S588F|uc002oce.3,p.S594F|uc010xsz.2,p.S555F|uc002ocg.3,p.S498F|ENST00000586861,p.S588F|NM_005166,p.S594F|NM_001024807,p.S595F|ENST00000221891,p.S595F|uc002ocf.3,p.S595F|ENST00000537454,p.S555F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xta.2	nonsynonymous SNV	exon15	c.C1763T	p.S588F	VSGLLIMGAGGGSLIVLSMLLLRRK	VSGLLIMGAGGGFLIVLSMLLLRRK	2.0	8.0	unscreened	-	3716_19:36370046-36370046 C>T_VSGLLIMGAGGGFLIVLSMLLLRRK
4:141400706-141400706 G>A	0.0	3716	MELANOMA	-	-	-	-	MGAT4D	uc031shc.1,p.P110L|NM_001277353,p.P110L|ENST00000503109,p.P110L|ENST00000511113,p.P110L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031shc.1	nonsynonymous SNV	exon3	c.C329T	p.P110L	VSNTFEDLKFFFPHLRKEGRIYPDV	VSNTFEDLKFFFLHLRKEGRIYPDV	1.0	3.0	unscreened	-	3716_4:141400706-141400706 G>A_VSNTFEDLKFFFLHLRKEGRIYPDV
8:99170029-99170029 C>T	1.0	3716	MELANOMA	-	-	-	-	POP1	ENST00000349693,p.P869S|uc003yij.4,p.P869S|uc003yik.3,p.P869S|NM_001145860,p.P869S|NM_015029,p.P869S|NM_001145861,p.P869S|ENST00000401707,p.P869S|uc011lgv.2,p.P869S	retained_intron, protein_coding	uc011lgv.2	nonsynonymous SNV	exon16	c.C2605T	p.P869S	VWVSLSLLSKGSPEPHTMICVPAKE	VWVSLSLLSKGSSEPHTMICVPAKE	5.0	5.0	-	-	3716_8:99170029-99170029 C>T_VWVSLSLLSKGSSEPHTMICVPAKE
10:60562956-60562956 C>T	0.0	3716	MELANOMA	-	-	-	-	BICC1	uc001jkj.1,p.S353F|ENST00000373886,p.S712F|NM_001080512,p.S712F|ENST00000263103,p.S338F|uc001jki.1,p.S712F	protein_coding, processed_transcript	uc001jkj.1	nonsynonymous SNV	exon7	c.C1058T	p.S353F	RAAERAAAAQQNSERAHLAPRSSYV	RAAERAAAAQQNFERAHLAPRSSYV	3.0	7.0	unscreened	-	3716_10:60562956-60562956 C>T_RAAERAAAAQQNFERAHLAPRSSYV
13:27333087-27333087 T>C	0.0	3716	MELANOMA	-	-	-	-	GPR12	uc021rhk.1,p.N293S|uc010tdl.2,p.N134S|ENST00000381436,p.N293S|NM_005288,p.N293S|uc010aal.3,p.N293S|ENST00000405846,p.N293S	protein_coding	uc021rhk.1	nonsynonymous SNV	exon1	c.A878G	p.N293S	IYTYATLLPATYNSIINPVIYAFRN	IYTYATLLPATYSSIINPVIYAFRN	1.0	3.0	unscreened	-	3716_13:27333087-27333087 T>C_IYTYATLLPATYSSIINPVIYAFRN
16:71509509-71509509 G>A	1.0	3716	MELANOMA	-	-	-	-	ZNF19	uc002fal.1,p.S302F|uc002fak.1,p.S302F|ENST00000565637,p.S272F|ENST00000288177,p.S314F|NM_006961,p.S314F|ENST00000564230,p.S314F|uc010cgc.1,p.S314F|uc002fam.1,p.S314F|ENST00000565100,p.S244F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cgc.1	nonsynonymous SNV	exon6	c.C941T	p.S314F	ECNECGKSFGRTSHLSQHQRIHTGE	ECNECGKSFGRTFHLSQHQRIHTGE	3.0	7.0	-	-	3716_16:71509509-71509509 G>A_ECNECGKSFGRTFHLSQHQRIHTGE
19:11565529-11565529 G>A	0.0	3716	MELANOMA	-	-	-	-	ELAVL3	uc002mry.1,p.P306S|ENST00000438662,p.P299S|uc002mrx.1,p.P299S|ENST00000359227,p.P306S|NM_032281,p.P299S|NM_001420,p.P306S	protein_coding, processed_transcript	uc002mry.1	nonsynonymous SNV	exon7	c.C916T	p.P306S	EADESVLWQLFGPFGAVTNVKVIRD	EADESVLWQLFGSFGAVTNVKVIRD	1.0	10.0	unscreened	-	3716_19:11565529-11565529 G>A_EADESVLWQLFGSFGAVTNVKVIRD
9:79325781-79325781 C>T	0.0	3716	MELANOMA	-	-	-	-	PRUNE2	ENST00000376718,p.S470N|uc010mpk.3,p.S470N|ENST00000428286,p.S111N|NM_015225,p.S470N|uc022bih.1,p.S292N	protein_coding, processed_transcript	uc022bih.1	nonsynonymous SNV	exon7	c.G875A	p.S292N	PHHTLLPGLDSYSPIPEGAVAEEHA	PHHTLLPGLDSYNPIPEGAVAEEHA	6.0	9.0	unscreened	-	3716_9:79325781-79325781 C>T_PHHTLLPGLDSYNPIPEGAVAEEHA
3:160395339-160395339 G>A	0.0	3716	MELANOMA	-	-	-	-	ARL14	NM_025047,p.E69K|ENST00000320767,p.E69K|uc003fdq.3,p.E69K	protein_coding	uc003fdq.3	nonsynonymous SNV	exon1	c.G205A	p.E69K	NLSLTVWDVGGQEKMRTVWGCYCEN	NLSLTVWDVGGQKKMRTVWGCYCEN	1.0	2.0	unscreened	-	3716_3:160395339-160395339 G>A_NLSLTVWDVGGQKKMRTVWGCYCEN
7:21468397-21468397 C>T	0.0	3716	MELANOMA	-	-	-	-	SP4	ENST00000448246,p.T37I	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000448246	nonsynonymous SNV	exon2	c.C110T	p.T37I	TSEPENNNKKPKTSGSQVSSKDKME	TSEPENNNKKPKISGSQVSSKDKME	5.0	1.0	unscreened	-	3716_7:21468397-21468397 C>T_TSEPENNNKKPKISGSQVSSKDKME
9:125273904-125273904 C>T	0.0	3716	MELANOMA	0.0009	-	-	-	OR1J2	NM_054107,p.A275V|uc004bmj.2,p.A275V|ENST00000335302,p.A275V|uc011lyv.2,p.A275V	protein_coding	uc011lyv.2	nonsynonymous SNV	exon1	c.C824T	p.A275V	TVSSSIDKDVIVALMYTVVTPMLNP	TVSSSIDKDVIVVLMYTVVTPMLNP	2.0	9.0	unscreened	-	3716_9:125273904-125273904 C>T_TVSSSIDKDVIVVLMYTVVTPMLNP
2:234712835-234712835 G>A	0.0	3716	MELANOMA	-	-	-	-	MROH2A	ENST00000389758,p.E630K|NM_001287395,p.E633K	retained_intron, protein_coding, processed_transcript	NM_001287395	nonsynonymous SNV	exon17	c.G1897A	p.E633K	WELEIALLVRYLEEHTEFTWDQKAW	WELEIALLVRYLKEHTEFTWDQKAW	1.0	8.0	unscreened	-	3716_2:234712835-234712835 G>A_WELEIALLVRYLKEHTEFTWDQKAW
5:40999812-40999812 C>T	0.0	3716	MELANOMA	-	-	-	-	MROH2B	uc003jmj.4,p.E1518K|ENST00000506092,p.E1073K|ENST00000399564,p.E1518K|uc003jmi.4,p.E1073K|NM_173489,p.E1518K	retained_intron, protein_coding	uc003jmj.4	nonsynonymous SNV	exon40	c.G4552A	p.E1518K	HTHSFTFFTSTWEVIRSAAVKLTDA	HTHSFTFFTSTWKVIRSAAVKLTDA	1.0	2.0	unscreened	-	3716_5:40999812-40999812 C>T_HTHSFTFFTSTWKVIRSAAVKLTDA
5:31297488-31297488 C>T	0.0	3716	MELANOMA	-	-	-	-	CDH6	uc003jhd.2,p.P206S|ENST00000514738,p.P151S|uc003jhe.2,p.P206S|ENST00000265071,p.P206S|NM_004932,p.P206S	retained_intron, protein_coding	uc003jhe.2	nonsynonymous SNV	exon4	c.C616T	p.P206S	SAKVVYSILQGQPYFSVESETGIIK	SAKVVYSILQGQSYFSVESETGIIK	3.0	4.0	unscreened	-	3716_5:31297488-31297488 C>T_SAKVVYSILQGQSYFSVESETGIIK
14:21624025-21624025 C>T	0.0	3716	MELANOMA	-	-	-	-	OR5AU1	NM_001004731,p.G54R|uc010tlp.2,p.G54R|ENST00000304418,p.G54R	protein_coding	uc010tlp.2	nonsynonymous SNV	exon1	c.G160A	p.G54R	SFSIAEHWRRMKGANLSQGMEFELL	SFSIAEHWRRMKRANLSQGMEFELL	1.0	9.0	unscreened	-	3716_14:21624025-21624025 C>T_SFSIAEHWRRMKRANLSQGMEFELL
19:50824024-50824024 C>T	1.0	3716	MELANOMA	-	-	-	-	KCNC3	uc002prt.1,p.D302N|ENST00000477616,p.D666N|uc002pru.1,p.D666N|ENST00000376959,p.D666N|NM_004977,p.D666N	protein_coding	uc002pru.1	nonsynonymous SNV	exon3	c.G1996A	p.D666N	IEINRADPRPNGDPAAAALAHEDCP	IEINRADPRPNGNPAAAALAHEDCP	2.0	10.0	-	-	3716_19:50824024-50824024 C>T_IEINRADPRPNGNPAAAALAHEDCP
17:4864126-4864126 T>A	1.0	3716	MELANOMA	-	-	-	-	SPAG7	ENST00000575784,p.K25N|NM_004890,p.K36N|ENST00000575142,p.K25N|ENST00000206020,p.K36N|uc002gaf.3,p.K36N|uc002gae.3,p.K36N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gaf.3	nonsynonymous SNV	exon2	c.A108T	p.K36N	RRKAREQAARLKKLQEQEKQQKVEF	RRKAREQAARLKNLQEQEKQQKVEF	7.0	7.0	-	-	3716_17:4864126-4864126 T>A_RRKAREQAARLKNLQEQEKQQKVEF
2:36706750-36706750 G>A	0.0	3716	MELANOMA	-	-	-	-	CRIM1	NM_016441,p.G429S|uc002rpd.3,p.G429S|ENST00000280527,p.G429S	retained_intron, protein_coding, processed_transcript	uc002rpd.3	nonsynonymous SNV	exon7	c.G1285A	p.G429S	REDDCTFCQCVNGERHCVATVCGQT	REDDCTFCQCVNSERHCVATVCGQT	8.0	5.0	unscreened	-	3716_2:36706750-36706750 G>A_REDDCTFCQCVNSERHCVATVCGQT
20:62737452-62737452 G>A	0.0	3716	MELANOMA	0.0014	-	-	-	NPBWR2	NM_005286,p.R245C|ENST00000369768,p.R245C|uc011abt.2,p.R245C	protein_coding	uc011abt.2	nonsynonymous SNV	exon1	c.C733T	p.R245C	TDLLRRLRAVRLRSGAKALGKARRK	TDLLRRLRAVRLCSGAKALGKARRK	1.0	8.0	unscreened	-	3716_20:62737452-62737452 G>A_TDLLRRLRAVRLCSGAKALGKARRK
12:21991021-21991021 C>A	0.0	3716	MELANOMA	-	-	-	-	ABCC9	ENST00000544039,p.R813L|ENST00000261200,p.R1186L|NM_020297,p.R1186L|uc001rfh.3,p.R1186L|ENST00000345162,p.R1150L|ENST00000261201,p.R1186L|NM_005691,p.R1186L|uc001rfi.1,p.R1186L	protein_coding	uc001rfi.1	nonsynonymous SNV	exon28	c.G3557T	p.R1186L	HFSETAEGLTTIRAFRHETRFKQRM	HFSETAEGLTTILAFRHETRFKQRM	4.0	8.0	unscreened	-	3716_12:21991021-21991021 C>A_HFSETAEGLTTILAFRHETRFKQRM
2:27499709-27499709 G>A	0.0	3716	MELANOMA	-	-	-	-	DNAJC5G	ENST00000402462,p.S38N|NM_173650,p.S38N|ENST00000296097,p.S38N|uc002rjl.1,p.S38N|uc002rjm.1,p.S38N	retained_intron, protein_coding	uc002rjm.1	nonsynonymous SNV	exon3	c.G113A	p.S38N	KGASPEDFKKSYSHSALLPHPPFEY	KGASPEDFKKSYNHSALLPHPPFEY	1.0	9.0	unscreened	-	3716_2:27499709-27499709 G>A_KGASPEDFKKSYNHSALLPHPPFEY
1:92646746-92646746 C>T	1.0	3716	MELANOMA	-	-	-	-	KIAA1107	ENST00000409154,p.P786L|uc001dop.3,p.P656L|uc010otd.2,p.P731L|NM_015237,p.P731L|ENST00000370378,p.P731L	protein_coding	uc010otd.2	nonsynonymous SNV	exon8	c.C2192T	p.P731L	LNSAQEDKKSKVPVEGLTIPSKLSD	LNSAQEDKKSKVLVEGLTIPSKLSD	4.0	9.0	-	-	3716_1:92646746-92646746 C>T_LNSAQEDKKSKVLVEGLTIPSKLSD
7:143826706-143826706 C>A	0.0	3716	MELANOMA	-	-	-	-	OR2A14	ENST00000408899,p.F167L|NM_001001659,p.F167L|uc011kua.2,p.F167L	protein_coding	uc011kua.2	nonsynonymous SNV	exon1	c.C501A	p.F167L	ALVPLVLILSLPFCGPHEINHFFCE	ALVPLVLILSLPLCGPHEINHFFCE	1.0	7.0	unscreened	-	3716_7:143826706-143826706 C>A_ALVPLVLILSLPLCGPHEINHFFCE
8:3443660-3443660 C>T	0.0	3716	MELANOMA	-	-	ID=COSM225619,COSM225620;OCCURENCE=1(NS)	-	CSMD1	ENST00000400186,p.R408Q|ENST00000602557,p.R408Q|NM_033225,p.R407Q|ENST00000542608,p.R407Q|ENST00000539096,p.R407Q|ENST00000537824,p.R407Q|ENST00000602723,p.R408Q|uc022aqr.1,p.R407Q|ENST00000520002,p.R408Q	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon9	c.G1220A	p.R407Q	TLAAWSDHRPICRARTCGSNLRGPS	TLAAWSDHRPICQARTCGSNLRGPS	6.0	4.0	unscreened	-	3716_8:3443660-3443660 C>T_TLAAWSDHRPICQARTCGSNLRGPS
13:28608123-28608123 C>T	0.0	3716	MELANOMA	-	-	-	1	FLT3	NM_004119,p.V615I|ENST00000380987,p.V615I|ENST00000241453,p.V615I|ENST00000380982,p.V615I|uc010tdn.2,p.V615I|uc001urw.3,p.V615I|ENST00000537084,p.V615I	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tdn.2	nonsynonymous SNV	exon15	c.G1843A	p.V615I	WEFPRENLEFGKVLGSGAFGKVMNA	WEFPRENLEFGKILGSGAFGKVMNA	1.0	5.0	unscreened	-	3716_13:28608123-28608123 C>T_WEFPRENLEFGKILGSGAFGKVMNA
18:44260090-44260090 G>A	0.0	3716	MELANOMA	-	-	-	-	ST8SIA5	ENST00000536490,p.A318V|uc002lci.1,p.A196V|ENST00000538168,p.A385V|uc002lcj.1,p.A349V|NM_013305,p.A349V|uc010xcz.1,p.A318V|ENST00000315087,p.A349V|uc010xcy.1,p.A385V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xcz.1	nonsynonymous SNV	exon6	c.C953T	p.A318V	YYDNVKPRPGFHAMPSEIFNFLHLH	YYDNVKPRPGFHVMPSEIFNFLHLH	1.0	7.0	unscreened	-	3716_18:44260090-44260090 G>A_YYDNVKPRPGFHVMPSEIFNFLHLH
1:34180229-34180229 C>T	0.0	3716	MELANOMA	-	-	-	-	CSMD2	uc001bxn.1,p.G1082S|ENST00000373381,p.G1122S|NM_001281956,p.G1122S|uc001bxm.1,p.G1122S|ENST00000241312,p.G1082S|NM_052896,p.G1082S	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxn.1	nonsynonymous SNV	exon21	c.G3244A	p.G1082S	RLEGTARITCLGGRRRLWSSPLPRC	RLEGTARITCLGSRRRLWSSPLPRC	1.0	10.0	unscreened	-	3716_1:34180229-34180229 C>T_RLEGTARITCLGSRRRLWSSPLPRC
10:8100511-8100511 C>T	0.0	3716	MELANOMA	-	-	-	1	GATA3	uc001ika.3,p.S162F|ENST00000379328,p.S162F|uc001ijz.3,p.S162F|NM_001002295,p.S162F|ENST00000346208,p.S162F|NM_002051,p.S162F	protein_coding, processed_transcript	uc001ika.3	nonsynonymous SNV	exon3	c.C485T	p.S162F	LFTFPPTPPKDVSPDPSLSTPGSAG	LFTFPPTPPKDVFPDPSLSTPGSAG	4.0	3.0	unscreened	-	3716_10:8100511-8100511 C>T_LFTFPPTPPKDVFPDPSLSTPGSAG
17:72541078-72541078 G>A	0.0	3716	MELANOMA	-	-	-	-	CD300C	ENST00000330793,p.P24S|uc002jky.2,p.P24S|NM_006678,p.P24S	protein_coding	uc002jky.2	nonsynonymous SNV	exon2	c.C70T	p.P24S	SALLLLLVPGYFPLSHPMTVAGPVG	SALLLLLVPGYFSLSHPMTVAGPVG	3.0	4.0	unscreened	-	3716_17:72541078-72541078 G>A_SALLLLLVPGYFSLSHPMTVAGPVG
X:73961202-73961202 G>A	0.0	3716	MELANOMA	-	-	-	-	KIAA2022	uc004eby.3,p.R1064C|ENST00000373468,p.R1064C|NM_001008537,p.R1064C|ENST00000055682,p.R1064C	protein_coding	uc004eby.3	nonsynonymous SNV	exon3	c.C3190T	p.R1064C	LLDISNFTPDKFRHSSLSEMSPPDT	LLDISNFTPDKFCHSSLSEMSPPDT	1.0	10.0	unscreened	-	3716_X:73961202-73961202 G>A_LLDISNFTPDKFCHSSLSEMSPPDT
16:88666320-88666320 G>T	1.0	3716	MELANOMA	-	-	-	-	ZC3H18	ENST00000452588,p.W375L|uc010voy.1,p.W234L|uc021tmm.1,p.W375L|uc010voz.2,p.W375L|NM_144604,p.W351L|uc002fky.3,p.W351L|ENST00000301011,p.W351L|NM_001294340,p.W375L	retained_intron, protein_coding	uc021tmm.1	nonsynonymous SNV	exon7	c.G1124T	p.W375L	REFDKENEVFRDWNSRIPRDVRDTV	REFDKENEVFRDLNSRIPRDVRDTV	8.0	6.0	-	-	3716_16:88666320-88666320 G>T_REFDKENEVFRDLNSRIPRDVRDTV
1:119929330-119929330 G>A	0.0	3716	MELANOMA	-	-	ID=COSM213316;OCCURENCE=1(breast),1(endometrium)	-	HAO2	ENST00000325945,p.R216Q|ENST00000361035,p.R229Q|uc001ehq.1,p.R216Q|NM_001005783,p.R229Q|NM_016527,p.R216Q|uc001ehr.1,p.R216Q	protein_coding, processed_transcript	uc001ehr.1	nonsynonymous SNV	exon5	c.G647A	p.R216Q	CWNDLSWFQSITRLPIILKGILTKE	CWNDLSWFQSITQLPIILKGILTKE	1.0	9.0	unscreened	-	3716_1:119929330-119929330 G>A_CWNDLSWFQSITQLPIILKGILTKE
2:27499709-27499709 G>A	0.0	3716	MELANOMA	-	-	-	-	DNAJC5G	ENST00000404433,p.R38K	retained_intron, protein_coding	ENST00000404433	nonsynonymous SNV	exon2	c.G113A	p.R38K	KGASPEDFKKSYRKLALRYHPDKNP	KGASPEDFKKSYKKLALRYHPDKNP	1.0	9.0	unscreened	-	3716_2:27499709-27499709 G>A_KGASPEDFKKSYKKLALRYHPDKNP
10:78870077-78870077 C>T	0.0	3716	MELANOMA	-	-	-	-	KCNMA1	ENST00000404771,p.E329K|ENST00000354353,p.E329K|uc001jxq.3,p.E329K|uc001jxj.2,p.E329K|uc009xrt.1,p.E149K|ENST00000406533,p.E329K|NM_001014797,p.E329K|NM_001271519,p.E329K|NM_002247,p.E329K|ENST00000372408,p.E266K|ENST00000604624,p.E190K|NM_001271518,p.E275K|uc021ptu.1,p.E275K|ENST00000286627,p.E329K|ENST00000372443,p.E329K|ENST00000372437,p.E264K|uc001jxn.3,p.E329K|NM_001161353,p.E329K|ENST00000457953,p.E303K|uc001jxm.3,p.E329K|uc001jxo.3,p.E329K|ENST00000372440,p.E329K|ENST00000286628,p.E329K|NM_001161352,p.E329K|ENST00000404857,p.E329K	protein_coding, processed_transcript	uc021ptu.1	nonsynonymous SNV	exon7	c.G823A	p.E275K	FIHLVENSGDPWENFQNNQALTYWE	FIHLVENSGDPWKNFQNNQALTYWE	5.0	5.0	unscreened	-	3716_10:78870077-78870077 C>T_FIHLVENSGDPWKNFQNNQALTYWE
17:40321497-40321497 C>T	0.0	3716	MELANOMA	-	-	ID=COSM706322;OCCURENCE=1(lung)	-	KCNH4	ENST00000607371,p.E530K|NM_012285,p.E530K|uc002hzb.2,p.E530K|ENST00000264661,p.E530K	protein_coding	uc002hzb.2	nonsynonymous SNV	exon9	c.G1588A	p.E530K	TTWAVNSGIDANELLRDFPDELRAD	TTWAVNSGIDANKLLRDFPDELRAD	1.0	10.0	unscreened	-	3716_17:40321497-40321497 C>T_TTWAVNSGIDANKLLRDFPDELRAD
20:39993687-39993687 G>A	0.0	3716	MELANOMA	-	-	-	-	EMILIN3	uc002xjy.1,p.P93L|ENST00000332312,p.P93L|NM_052846,p.P93L	protein_coding	uc002xjy.1	nonsynonymous SNV	exon2	c.C278T	p.P93L	AEYRQCRWGPKCPGTVTYRTVLRPK	AEYRQCRWGPKCLGTVTYRTVLRPK	1.0	6.0	unscreened	-	3716_20:39993687-39993687 G>A_AEYRQCRWGPKCLGTVTYRTVLRPK
3:183818224-183818224 G>A	0.0	3716	MELANOMA	-	-	-	-	HTR3E	NM_182589,p.E22K|NM_001256614,p.E22K|ENST00000440596,p.E22K|ENST00000436361,p.E22K|NM_198314,p.E22K|uc003fmm.3,p.E22K|uc003fmn.3,p.E22K|ENST00000335304,p.E22K|uc010hxr.3,p.E22K	protein_coding	uc010hxr.3	nonsynonymous SNV	exon1	c.G64A	p.E22K	TPRPALGPLSYREHRVALLHLTHSM	TPRPALGPLSYRKHRVALLHLTHSM	1.0	6.0	unscreened	-	3716_3:183818224-183818224 G>A_TPRPALGPLSYRKHRVALLHLTHSM
9:16435575-16435575 G>A	1.0	3716	MELANOMA	-	-	-	-	BNC2	uc003zmj.3,p.P638S|uc003zmi.3,p.P638S|uc003zmm.3,p.P831S|ENST00000418777,p.P830S|ENST00000411752,p.P266S|uc003zmn.1,p.P638S	protein_coding, processed_transcript, nonsense_mediated_decay	uc003zmn.1	nonsynonymous SNV	exon1	c.C1912T	p.P638S	HVCTVAGCNAAFPSRRSRDRNRNLR	HVCTVAGCNAAFSSRRSRDRNRNLR	9.0	10.0	-	-	3716_9:16435575-16435575 G>A_HVCTVAGCNAAFSSRRSRDRNRNLR
7:134896146-134896146 C>T	1.0	3716	MELANOMA	-	-	-	-	WDR91	uc003vsp.2,p.E37K|ENST00000344400,p.E37K|ENST00000354475,p.E37K|NM_014149,p.E37K	retained_intron, protein_coding, processed_transcript	uc003vsp.2	nonsynonymous SNV	exon1	c.G109A	p.E37K	LRQLDAEIKADKEKGFRVDKIVDQL	LRQLDAEIKADKKKGFRVDKIVDQL	9.0	7.0	-	-	3716_7:134896146-134896146 C>T_LRQLDAEIKADKKKGFRVDKIVDQL
12:123285997-123285997 C>T	0.0	3716	MELANOMA	-	-	-	-	CCDC62	NM_201435,p.P435L|uc001udc.3,p.P435L|uc001ude.3,p.P196L|ENST00000341952,p.P435L|ENST00000537566,p.P196L|ENST00000392440,p.P196L|ENST00000253079,p.P435L|ENST00000392441,p.P435L|uc021rfn.1,p.P250L	protein_coding, nonsense_mediated_decay	uc021rfn.1	nonsynonymous SNV	exon5	c.C749T	p.P250L	NKITLCKIHTKSPKCHGTGVQNEGK	NKITLCKIHTKSLKCHGTGVQNEGK	2.0	1.0	unscreened	-	3716_12:123285997-123285997 C>T_NKITLCKIHTKSLKCHGTGVQNEGK
9:16435575-16435575 G>A	1.0	3716	MELANOMA	-	-	-	-	BNC2	uc003zml.3,p.P873S|ENST00000380667,p.P806S|uc011lmw.2,p.P778S|ENST00000545497,p.P778S|ENST00000380672,p.P873S|NM_017637,p.P873S	protein_coding, processed_transcript, nonsense_mediated_decay	uc011lmw.2	nonsynonymous SNV	exon5	c.C2332T	p.P778S	HVCTVAGCNAAFPSRRSRDRHSANI	HVCTVAGCNAAFSSRRSRDRHSANI	9.0	10.0	-	-	3716_9:16435575-16435575 G>A_HVCTVAGCNAAFSSRRSRDRHSANI
12:50474906-50474906 G>A	0.0	3716	MELANOMA	-	-	-	-	ASIC1	NM_001256830,p.G474E|uc031qhf.1,p.G343E|uc009zlo.4,p.G440E|uc001rvw.4,p.G440E|NM_001095,p.G440E|ENST00000552438,p.G474E|uc009zln.4,p.G231E|uc021qxr.2,p.G474E|ENST00000447966,p.G440E	retained_intron, protein_coding, nonsense_mediated_decay	uc031qhf.1	nonsynonymous SNV	exon9	c.G1028A	p.G343E	IAGLLGDIGGQMGLFIGASILTVLE	IAGLLGDIGGQMELFIGASILTVLE	2.0	2.0	unscreened	-	3716_12:50474906-50474906 G>A_IAGLLGDIGGQMELFIGASILTVLE
1:53925437-53925437 C>T	0.0	3716	MELANOMA	-	-	-	-	DMRTB1	uc001cvq.1,p.S104F|NM_033067,p.S104F|ENST00000371445,p.S104F	protein_coding, processed_transcript	uc001cvq.1	nonsynonymous SNV	exon1	c.C311T	p.S104F	AASLRPLSPGTPSGDADPGPEGRAA	AASLRPLSPGTPFGDADPGPEGRAA	1.0	7.0	unscreened	-	3716_1:53925437-53925437 C>T_AASLRPLSPGTPFGDADPGPEGRAA
17:42744754-42744754 G>A	0.0	3716	MELANOMA	-	-	-	-	C17orf104	uc002igz.3,p.R326Q|NM_001145080,p.R492Q|ENST00000409464,p.R326Q|ENST00000409122,p.R492Q|uc002iha.3,p.R492Q|ENST00000359945,p.R492Q|uc002igy.1,p.R326Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc002iha.3	nonsynonymous SNV	exon5	c.G1475A	p.R492Q	NVQTKNNTPIPYRNQGNLMKLNSHL	NVQTKNNTPIPYQNQGNLMKLNSHL	1.0	7.0	unscreened	-	3716_17:42744754-42744754 G>A_NVQTKNNTPIPYQNQGNLMKLNSHL
12:50474906-50474906 G>A	0.0	3716	MELANOMA	-	-	-	-	ASIC1	ENST00000228468,p.G486E|NM_020039,p.G486E|uc001rvv.4,p.G486E	retained_intron, protein_coding, nonsense_mediated_decay	uc001rvv.4	nonsynonymous SNV	exon10	c.G1457A	p.G486E	KPCCLGDIGGQMGLFIGASILTVLE	KPCCLGDIGGQMELFIGASILTVLE	2.0	2.0	unscreened	-	3716_12:50474906-50474906 G>A_KPCCLGDIGGQMELFIGASILTVLE
7:147092827-147092827 G>A	0.0	3716	MELANOMA	-	-	-	2	CNTNAP2	uc003weu.2,p.G542E|ENST00000361727,p.G542E|NM_014141,p.G542E	protein_coding, processed_transcript	uc003weu.2	nonsynonymous SNV	exon10	c.G1625A	p.G542E	LVNLYEVAQRKPGSFANVSIDMCAI	LVNLYEVAQRKPESFANVSIDMCAI	1.0	2.0	unscreened	-	3716_7:147092827-147092827 G>A_LVNLYEVAQRKPESFANVSIDMCAI
1:154213998-154214018 GGACTGCAACAGAGGAGTGGG>-	0.0	3716	MELANOMA	-	-	-	-	UBAP2L	ENST00000361546,p.238_245del|NM_001127320,p.238_245del|uc001fep.4,p.238_245del|NM_001287816,p.249_256del|ENST00000271877,p.249_256del|uc010pel.2,p.248_255del|ENST00000343815,p.238_245del|uc010pek.2,p.230_237del|ENST00000428931,p.238_245del|uc010pen.2,p.152_159del|uc009wot.3,p.238_245del|NM_001287815,p.231_238del|NM_014847,p.238_245del	protein_coding, processed_transcript	uc010pen.2	nonframeshift deletion	exon6	c.455_475del	p.152_159del	GHFEPDDGTSAWRTATEEWGTEDWN	GHFEPDDGTSAWRTEDWNEDLSETK	10.0	3.0	unscreened	-	3716_1:154213998-154214018 GGACTGCAACAGAGGAGTGGG>-_GHFEPDDGTSAWRTEDWNEDLSETK
7:86394804-86394804 G>A	0.0	3716	MELANOMA	-	-	-	2	GRM3	ENST00000394720,p.A113T|ENST00000439827,p.A115T|ENST00000361669,p.A115T|uc010lef.3,p.A113T|NM_000840,p.A115T|uc003uid.3,p.A115T	protein_coding	uc010lef.3	nonsynonymous SNV	exon2	c.G337A	p.A113T	TYALEQSLEFVRASLTKVDEAEYMC	TYALEQSLEFVRTSLTKVDEAEYMC	1.0	2.0	unscreened	-	3716_7:86394804-86394804 G>A_TYALEQSLEFVRTSLTKVDEAEYMC
2:182780804-182780804 C>T	1.0	3716	MELANOMA	-	-	-	-	SSFA2	uc002uoi.3,p.P813S|ENST00000320370,p.P813S|uc010zfo.2,p.P660S|NM_006751,p.P813S|ENST00000409001,p.P813S|NM_001287504,p.P660S|uc002uom.3,p.P281S|uc002uoh.3,p.P813S|ENST00000431877,p.P813S|ENST00000428267,p.P660S|uc002uol.3,p.P660S|ENST00000409136,p.P322S|NM_001130445,p.P813S|uc002uoj.3,p.P813S|NM_001287503,p.P813S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zfo.2	nonsynonymous SNV	exon10	c.C1978T	p.P660S	FISPSSVKKEEAPQSEAPRVEECHH	FISPSSVKKEEASQSEAPRVEECHH	10.0	7.0	-	-	3716_2:182780804-182780804 C>T_FISPSSVKKEEASQSEAPRVEECHH
7:141747587-141747587 G>A	0.0	3716	MELANOMA	-	-	-	-	MGAM	NM_004668,p.R834Q|uc003vwy.3,p.R834Q|ENST00000549489,p.R834Q|ENST00000475668,p.R834Q	retained_intron, protein_coding, processed_transcript	uc003vwy.3	nonsynonymous SNV	exon22	c.G2501A	p.R834Q	PTQQPNTTTLASRKNPLGLIIALDE	PTQQPNTTTLASQKNPLGLIIALDE	1.0	2.0	unscreened	-	3716_7:141747587-141747587 G>A_PTQQPNTTTLASQKNPLGLIIALDE
8:17218646-17218646 C>T	0.0	3716	MELANOMA	-	-	-	-	MTMR7	uc003wxm.3,p.D150N|ENST00000180173,p.D150N|ENST00000521857,p.D150N|NM_004686,p.D150N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003wxm.3	nonsynonymous SNV	exon4	c.G448A	p.D150N	RMGLPNHYWQLSDVNRDYRVCDSYP	RMGLPNHYWQLSNVNRDYRVCDSYP	1.0	3.0	unscreened	-	3716_8:17218646-17218646 C>T_RMGLPNHYWQLSNVNRDYRVCDSYP
5:13719162-13719162 C>T	0.0	3716	MELANOMA	-	-	-	-	DNAH5	uc003jfd.2,p.D4110N|ENST00000265104,p.D4110N|uc003jfc.2,p.D278N|NM_001369,p.D4110N	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon72	c.G12328A	p.D4110N	LLQNCHLGLDFMDELMDIIIETELV	LLQNCHLGLDFMNELMDIIIETELV	1.0	1.0	unscreened	-	3716_5:13719162-13719162 C>T_LLQNCHLGLDFMNELMDIIIETELV
7:137531254-137531254 C>T	0.0	3716	MELANOMA	-	-	-	-	DGKI	ENST00000288490,p.E119K|NM_004717,p.E119K|uc003vtt.3,p.E119K|ENST00000424189,p.E119K|ENST00000446122,p.E119K	retained_intron, protein_coding, processed_transcript	uc003vtt.3	nonsynonymous SNV	exon1	c.G355A	p.E119K	AAAGQKEKDEALEEKLRNLTFRKQV	AAAGQKEKDEALKEKLRNLTFRKQV	2.0	2.0	unscreened	-	3716_7:137531254-137531254 C>T_AAAGQKEKDEALKEKLRNLTFRKQV
3:183958675-183958675 C>T	0.0	3716	MELANOMA	-	-	-	-	VWA5B2	uc011bra.2,p.T946I|ENST00000273794,p.T728I|NM_138345,p.T946I|uc011brb.2,p.T728I|uc003fnd.3,p.T666I|ENST00000426955,p.T946I	retained_intron, protein_coding	uc011brb.2	nonsynonymous SNV	exon14	c.C2183T	p.T728I	SCFTCPVAVDATTREVLPGALQVCS	SCFTCPVAVDATIREVLPGALQVCS	1.0	5.0	unscreened	-	3716_3:183958675-183958675 C>T_SCFTCPVAVDATIREVLPGALQVCS
16:23382624-23382624 G>A	0.0	3716	MELANOMA	-	-	-	-	SCNN1B	ENST00000564275,p.E261K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000564275	nonsynonymous SNV	exon4	c.G781A	p.E261K	CLFGAEPCNYRPEVDPGHRPGRLRP	CLFGAEPCNYRPKVDPGHRPGRLRP	1.0	10.0	unscreened	-	3716_16:23382624-23382624 G>A_CLFGAEPCNYRPKVDPGHRPGRLRP
4:126411851-126411851 C>T	0.0	3716	MELANOMA	-	-	-	1	FAT4	uc003ifj.4,p.A4625V|uc003ifi.1,p.A2102V|NM_001291303,p.A4627V|uc011cgp.2,p.A2866V|ENST00000394329,p.A4625V|ENST00000335110,p.A2866V|NM_024582,p.A4625V|NM_001291285,p.A4626V	retained_intron, protein_coding	uc011cgp.2	nonsynonymous SNV	exon15	c.C8597T	p.A2866V	PEQEIEHYDIDNASSIAPSDADIIQ	PEQEIEHYDIDNVSSIAPSDADIIQ	3.0	2.0	unscreened	-	3716_4:126411851-126411851 C>T_PEQEIEHYDIDNVSSIAPSDADIIQ
5:180166779-180166779 G>T	0.0	3716	MELANOMA	-	-	-	-	OR2Y1	NM_001001657,p.R94S|uc003mmf.1,p.R94S|ENST00000307832,p.R94S	protein_coding	uc003mmf.1	nonsynonymous SNV	exon1	c.C280A	p.R94S	LINLCGVDRTITRGGCVAQLFIYLA	LINLCGVDRTITSGGCVAQLFIYLA	1.0	1.0	unscreened	-	3716_5:180166779-180166779 G>T_LINLCGVDRTITSGGCVAQLFIYLA
4:155533574-155533574 C>T	0.0	3716	MELANOMA	-	-	-	-	FGG	NM_021870,p.R31K|uc003iog.3,p.R31K|uc003ioj.3,p.R31K|NM_000509,p.R31K|ENST00000407946,p.R31K|ENST00000336098,p.R31K|ENST00000405164,p.R31K|ENST00000404648,p.R31K	retained_intron, protein_coding	uc003ioj.3	nonsynonymous SNV	exon2	c.G92A	p.R31K	FLSSTCVAYVATRDNCCILDERFGS	FLSSTCVAYVATKDNCCILDERFGS	1.0	8.0	unscreened	-	3716_4:155533574-155533574 C>T_FLSSTCVAYVATKDNCCILDERFGS
1:167825635-167825635 G>T	0.0	3716	MELANOMA	-	-	-	-	ADCY10	NM_001167749,p.Q494K|uc010plj.2,p.Q494K|ENST00000367851,p.Q647K|ENST00000545172,p.Q494K|uc009wvk.3,p.Q555K|NM_018417,p.Q647K|ENST00000367848,p.Q555K|uc001ger.3,p.Q647K|NM_001297772,p.Q555K|uc009wvl.3,p.Q646K	protein_coding, processed_transcript	uc010plj.2	nonsynonymous SNV	exon14	c.C1480A	p.Q494K	KEERIIFIIDEAQFVDSTSWRFMEK	KEERIIFIIDEAKFVDSTSWRFMEK	1.0	7.0	unscreened	-	3716_1:167825635-167825635 G>T_KEERIIFIIDEAKFVDSTSWRFMEK
5:140502563-140502563 G>A	0.0	3716	MELANOMA	-	-	-	-	PCDHB4	ENST00000194152,p.G328E|NM_018938,p.G328E|uc003lip.1,p.G328E	protein_coding	uc003lip.1	nonsynonymous SNV	exon1	c.G983A	p.G328E	VEIEATDGGGLSGKGTVVIEVVDVN	VEIEATDGGGLSEKGTVVIEVVDVN	3.0	1.0	unscreened	-	3716_5:140502563-140502563 G>A_VEIEATDGGGLSEKGTVVIEVVDVN
7:129999445-129999445 G>A	0.0	3716	MELANOMA	-	-	-	-	CPA5	ENST00000485477,p.E117K|uc010lmd.1,p.E117K|uc003vpu.1,p.E117K|ENST00000393213,p.E117K|uc010lme.1,p.E117K|uc003vps.2,p.E117K|ENST00000431780,p.E117K|ENST00000355388,p.E117K|NM_001127442,p.E117K|uc003vpt.2,p.E117K|NM_080385,p.E117K|ENST00000474905,p.E117K|NM_001127441,p.E117K|ENST00000461828,p.E117K|ENST00000466363,p.E117K	retained_intron, protein_coding	uc010lme.1	nonsynonymous SNV	exon5	c.G349A	p.E117K	IMIKDIQVLLDEERQAMAKSRRLER	IMIKDIQVLLDEKRQAMAKSRRLER	1.0	3.0	unscreened	-	3716_7:129999445-129999445 G>A_IMIKDIQVLLDEKRQAMAKSRRLER
2:228890172-228890172 C>T	0.0	3716	MELANOMA	-	-	ID=COSM233478,COSM233479;OCCURENCE=1(skin)	-	SPHKAP	NM_030623,p.E127K|ENST00000344657,p.E127K|uc010zlx.1,p.E127K|NM_001142644,p.E127K|uc002vpp.2,p.E127K|ENST00000392056,p.E127K|uc002vpq.2,p.E127K	retained_intron, protein_coding	uc010zlx.1	nonsynonymous SNV	exon5	c.G379A	p.E127K	ISSMNVQQPKENEIVVLSGLASGNL	ISSMNVQQPKENKIVVLSGLASGNL	1.0	8.0	unscreened	-	3716_2:228890172-228890172 C>T_ISSMNVQQPKENKIVVLSGLASGNL
16:71220681-71220681 C>T	0.0	3716	MELANOMA	-	-	-	-	HYDIN	uc031qwy.1,p.E40K|uc002ezw.4,p.E57K|ENST00000321489,p.E40K|ENST00000448089,p.E40K|NM_001198542,p.E67K|ENST00000448691,p.E40K|ENST00000393550,p.E40K|NM_001270974,p.E40K|ENST00000288168,p.E57K|NM_001198543,p.E57K|NM_017558,p.E40K|uc010vmc.2,p.E57K|uc010vmd.2,p.E67K|uc021tkq.2,p.E40K|ENST00000393567,p.E40K|ENST00000541601,p.E57K|ENST00000538248,p.E67K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon2	c.G118A	p.E40K	VLPPLSPKVVTEEEVNRMLTPSEFL	VLPPLSPKVVTEKEVNRMLTPSEFL	1.0	8.0	unscreened	-	3716_16:71220681-71220681 C>T_VLPPLSPKVVTEKEVNRMLTPSEFL
3:155311739-155311739 G>A	0.0	3716	MELANOMA	-	-	-	-	PLCH1	NM_001130961,p.T142I|uc021xgf.1,p.T124I|ENST00000414191,p.T124I|ENST00000494598,p.T142I|ENST00000334686,p.T124I|ENST00000340059,p.T142I|NM_001130960,p.T142I|uc021xgd.1,p.T142I|ENST00000447496,p.T142I|uc021xge.1,p.T142I|ENST00000460012,p.T124I|NM_014996,p.T124I	retained_intron, protein_coding	uc021xgf.1	nonsynonymous SNV	exon3	c.C371T	p.T124I	ISDEDSLAKRQRTHDQWVKQTFEEA	ISDEDSLAKRQRIHDQWVKQTFEEA	2.0	5.0	unscreened	-	3716_3:155311739-155311739 G>A_ISDEDSLAKRQRIHDQWVKQTFEEA
17:72926571-72926571 C>T	0.0	3716	MELANOMA	-	-	-	-	OTOP2	uc010wrp.2,p.P281S|NM_178160,p.P281S|ENST00000331427,p.P281S|ENST00000580223,p.P281S	retained_intron, protein_coding	uc010wrp.2	nonsynonymous SNV	exon6	c.C841T	p.P281S	LASTPGHSHTPTPVSLFRETFFAGP	LASTPGHSHTPTSVSLFRETFFAGP	1.0	4.0	unscreened	-	3716_17:72926571-72926571 C>T_LASTPGHSHTPTSVSLFRETFFAGP
6:55638947-55638947 C>A	0.0	3716	MELANOMA	-	-	-	2	BMP5	ENST00000446683,p.E309D|NM_021073,p.E309D|uc003pcq.3,p.E309D|uc011dxf.2,p.E309D|ENST00000370830,p.E309D	protein_coding	uc011dxf.2	nonsynonymous SNV	exon4	c.G927T	p.E309D	KQPFMVAFFKASEVLLRSVRAANKR	KQPFMVAFFKASDVLLRSVRAANKR	1.0	4.0	unscreened	-	3716_6:55638947-55638947 C>A_KQPFMVAFFKASDVLLRSVRAANKR
6:32782231-32782231 G>A	0.0	3716	MELANOMA	-	-	-	-	HLA-DOB	ENST00000452392,p.S777F|uc011dqg.1,p.S170F|ENST00000438763,p.S170F|uc011dqf.1,p.S777F|uc003oca.3,p.S170F|NM_002120,p.S170F	retained_intron, protein_coding, nonsense_mediated_decay	uc011dqg.1	nonsynonymous SNV	exon3	c.C509T	p.S170F	FLNGQEERAGVMSTGPIRNGDWTFQ	FLNGQEERAGVMFTGPIRNGDWTFQ	3.0	5.0	unscreened	-	3716_6:32782231-32782231 G>A_FLNGQEERAGVMFTGPIRNGDWTFQ
18:28983456-28983456 C>T	0.0	3716	MELANOMA	-	-	-	-	DSG4	uc002kwq.2,p.P499S|uc002kwr.2,p.P499S|NM_177986,p.P499S|ENST00000359747,p.P499S|ENST00000308128,p.P499S|NM_001134453,p.P499S	protein_coding	uc002kwr.2	nonsynonymous SNV	exon11	c.C1495T	p.P499S	VPDINDYCPNIFPERRTICIDSPSV	VPDINDYCPNIFSERRTICIDSPSV	1.0	8.0	unscreened	-	3716_18:28983456-28983456 C>T_VPDINDYCPNIFSERRTICIDSPSV
8:113518990-113518990 G>A	0.0	3716	MELANOMA	-	-	-	2	CSMD3	uc003yns.3,p.P881S|uc003ynu.3,p.P1609S|ENST00000343508,p.P1569S|NM_052900,p.P1505S|ENST00000455883,p.P1505S|ENST00000297405,p.P1609S|uc003ynt.3,p.P1569S|NM_198124,p.P1569S|ENST00000352409,p.P1609S|NM_198123,p.P1609S|uc011lhx.2,p.P1505S|ENST00000339701,p.P949S	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon28	c.C4513T	p.P1505S	GFILSPNFPHPYPHSRDCDWTITVN	GFILSPNFPHPYSHSRDCDWTITVN	1.0	3.0	unscreened	-	3716_8:113518990-113518990 G>A_GFILSPNFPHPYSHSRDCDWTITVN
15:40545028-40545028 C>T	0.0	3716	MELANOMA	-	-	-	-	C15orf56	ENST00000319503,p.R21K|ENST00000559727,p.R21K|uc001zla.2,p.R21K|NM_001039905,p.R21K	protein_coding	uc001zla.2	nonsynonymous SNV	exon1	c.G62A	p.R21K	AEGGPAPGTRSSRCLRPRPLAWRRL	AEGGPAPGTRSSKCLRPRPLAWRRL	1.0	1.0	unscreened	-	3716_15:40545028-40545028 C>T_AEGGPAPGTRSSKCLRPRPLAWRRL
19:813292-813292 C>T	0.0	3716	MELANOMA	-	-	-	-	LPPR3	ENST00000520876,p.G479R|ENST00000359894,p.G507R|uc002lpw.2,p.G507R|uc021ulz.1,p.G115R|NM_001270366,p.G479R|uc002lpy.2,p.G260R|uc002lpx.2,p.G479R|NM_024888,p.G507R	retained_intron, protein_coding	uc021ulz.1	nonsynonymous SNV	exon1	c.G343A	p.G115R	SLYPTVQARPGLGPRVILPPRAGPP	SLYPTVQARPGLRPRVILPPRAGPP	1.0	8.0	unscreened	-	3716_19:813292-813292 C>T_SLYPTVQARPGLRPRVILPPRAGPP
1:179783224-179783224 C>T	0.0	3716	MELANOMA	-	-	-	-	FAM163A	uc001gnj.3,p.P135L|uc009wxk.3,p.P135L|NM_173509,p.P135L|ENST00000341785,p.P135L|uc009wxj.3,p.P135L	protein_coding	uc009wxk.3	nonsynonymous SNV	exon5	c.C404T	p.P135L	SFAPTYYKEGGPPSLKLAAPQSYPV	SFAPTYYKEGGPLSLKLAAPQSYPV	1.0	5.0	unscreened	-	3716_1:179783224-179783224 C>T_SFAPTYYKEGGPLSLKLAAPQSYPV
5:79616657-79616657 G>A	0.0	3716	MELANOMA	-	-	-	-	SPZ1	uc003kgn.3,p.R208K|NM_032567,p.R208K|ENST00000296739,p.R208K|ENST00000511881,p.R208K	protein_coding	uc003kgn.3	nonsynonymous SNV	exon1	c.G623A	p.R208K	NQNSENTAQVFARDLVNRLEEKKVL	NQNSENTAQVFAKDLVNRLEEKKVL	1.0	2.0	unscreened	-	3716_5:79616657-79616657 G>A_NQNSENTAQVFAKDLVNRLEEKKVL
1:152188964-152188964 C>T	0.0	3716	MELANOMA	-	rs78582525	-	-	HRNR	ENST00000368801,p.S1714N|NM_001009931,p.S1714N|uc001ezt.2,p.S1714N	protein_coding	uc001ezt.2	nonsynonymous SNV	exon3	c.G5141A	p.S1714N	HGRQGSGSGQSPSRGRHGSGLGHSS	HGRQGSGSGQSPNRGRHGSGLGHSS	1.0	1.0	unscreened	-	3716_1:152188964-152188964 C>T_HGRQGSGSGQSPNRGRHGSGLGHSS
2:27499709-27499709 G>A	0.0	3716	MELANOMA	-	-	-	-	DNAJC5G	uc010yli.1,p.R38K|ENST00000420191,p.R38K|ENST00000406962,p.R38K	retained_intron, protein_coding	uc010yli.1	nonsynonymous SNV	exon3	c.G113A	p.R38K	KGASPEDFKKSYRHLSSCVLCSLVA	KGASPEDFKKSYKHLSSCVLCSLVA	1.0	9.0	unscreened	-	3716_2:27499709-27499709 G>A_KGASPEDFKKSYKHLSSCVLCSLVA
2:36943518-36943518 G>A	0.0	3716	MELANOMA	-	-	-	-	VIT	NM_001177969,p.R2K|uc010ezw.3,p.R2K|ENST00000404084,p.R2K|uc002rpm.3,p.R2K|NM_001177970,p.R2K|uc002rpk.3,p.R2K|uc002rpl.3,p.R2K|ENST00000401530,p.R2K|NM_053276,p.R2K|ENST00000457137,p.R2K|ENST00000389975,p.R2K|ENST00000379242,p.R2K|NM_001177972,p.R2K|NM_001177971,p.R2K|uc010ezv.3,p.R2K|ENST00000379241,p.R2K	protein_coding	uc010ezw.3	nonsynonymous SNV	exon2	c.G5A	p.R2K	MRTVVLTMKASVIE	MKTVVLTMKASVIE	1.0	8.0	unscreened	-	3716_2:36943518-36943518 G>A_MKTVVLTMKASVIE
3:183995165-183995165 G>A	0.0	3716	MELANOMA	-	-	-	-	ECE2	uc011brh.1,p.R101Q|ENST00000402825,p.R248Q|ENST00000357474,p.R176Q|uc003fnl.4,p.R176Q|uc011brg.1,p.R176Q|uc003fni.4,p.R248Q|NM_001100120,p.R176Q|NM_001037324,p.R101Q|uc011bri.1,p.R163Q|uc003fnm.4,p.R130Q|uc003fnk.4,p.R101Q|NM_001100121,p.R130Q|NM_014693,p.R248Q|ENST00000430587,p.R122Q|ENST00000404464,p.R130Q|ENST00000359140,p.R101Q	retained_intron, protein_coding, nonsense_mediated_decay	uc011bri.1	nonsynonymous SNV	exon3	c.G488A	p.R163Q	EDFYQFSCGGWIRRNPLPDGRSRWN	EDFYQFSCGGWIQRNPLPDGRSRWN	2.0	2.0	unscreened	-	3716_3:183995165-183995165 G>A_EDFYQFSCGGWIQRNPLPDGRSRWN
7:21468397-21468397 C>T	0.0	3716	MELANOMA	-	-	-	-	SP4	uc003sva.3,p.T37I|NM_003112,p.T37I|ENST00000222584,p.T37I	retained_intron, protein_coding, nonsense_mediated_decay	uc003sva.3	nonsynonymous SNV	exon2	c.C110T	p.T37I	TSEPENNNKKPKTSGSQDSQPSPLA	TSEPENNNKKPKISGSQDSQPSPLA	5.0	1.0	unscreened	-	3716_7:21468397-21468397 C>T_TSEPENNNKKPKISGSQDSQPSPLA
5:44305164-44305164 C>T	0.0	3716	MELANOMA	-	-	-	-	FGF10	ENST00000264664,p.R187K|NM_004465,p.R187K|uc003jog.1,p.R187K	protein_coding	uc003jog.1	nonsynonymous SNV	exon3	c.G560A	p.R187K	QMYVALNGKGAPRRGQKTRRKNTSA	QMYVALNGKGAPKRGQKTRRKNTSA	2.0	4.0	unscreened	-	3716_5:44305164-44305164 C>T_QMYVALNGKGAPKRGQKTRRKNTSA
16:2231345-2231345 G>A	0.0	3716	MELANOMA	-	-	-	-	CASKIN1	ENST00000343516,p.T675I|uc010bsg.1,p.T675I|NM_020764,p.T675I	retained_intron, protein_coding, processed_transcript	uc010bsg.1	nonsynonymous SNV	exon18	c.C2024T	p.T675I	AAMTGPAEVGPTTEKPSSHLPPTPR	AAMTGPAEVGPTIEKPSSHLPPTPR	1.0	9.0	unscreened	-	3716_16:2231345-2231345 G>A_AAMTGPAEVGPTIEKPSSHLPPTPR
8:99170030-99170030 C>T	0.0	3716	MELANOMA	-	-	-	-	POP1	ENST00000401707,p.P869L|uc003yij.4,p.P869L|uc011lgv.2,p.P869L|ENST00000349693,p.P869L|uc003yik.3,p.P869L|NM_001145861,p.P869L|NM_001145860,p.P869L|NM_015029,p.P869L	retained_intron, protein_coding	uc011lgv.2	nonsynonymous SNV	exon16	c.C2606T	p.P869L	VWVSLSLLSKGSPEPHTMICVPAKE	VWVSLSLLSKGSLEPHTMICVPAKE	5.0	5.0	unscreened	-	3716_8:99170030-99170030 C>T_VWVSLSLLSKGSLEPHTMICVPAKE
12:10599239-10599239 C>T	0.0	3716	MELANOMA	-	-	-	-	KLRC1	uc001qyn.3,p.E205K|ENST00000544822,p.E205K|uc001qym.3,p.E187K|ENST00000408006,p.E187K|ENST00000359151,p.E205K|ENST00000347831,p.E187K|uc001qyl.3,p.E205K|NM_002259,p.E205K|uc009zhm.2,p.E205K|uc001qyo.3,p.E187K|NM_007328,p.E187K|ENST00000536188,p.E205K|NM_213657,p.E187K|NM_213658,p.E205K	retained_intron, protein_coding	uc009zhm.2	nonsynonymous SNV	exon8	c.G613A	p.E205K	AFKHEIKDSDNAELNCAVLQVNRLK	AFKHEIKDSDNAKLNCAVLQVNRLK	1.0	3.0	unscreened	-	3716_12:10599239-10599239 C>T_AFKHEIKDSDNAKLNCAVLQVNRLK
8:69621309-69621309 C>T	0.0	3716	MELANOMA	-	-	-	-	C8orf34	uc003xyb.3,p.S330L|ENST00000337103,p.S330L|ENST00000539993,p.S355L|ENST00000325233,p.S99L|NM_052958,p.S441L|ENST00000518698,p.S441L|uc010lyz.3,p.S441L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lyz.3	nonsynonymous SNV	exon9	c.C1322T	p.S441L	PILHSPDEKIPDSFDSLPGTEEALM	PILHSPDEKIPDLFDSLPGTEEALM	1.0	4.0	unscreened	-	3716_8:69621309-69621309 C>T_PILHSPDEKIPDLFDSLPGTEEALM
20:644881-644881 G>A	0.0	3716	MELANOMA	-	-	-	-	SCRT2	uc002wec.3,p.R120W|NM_033129,p.R120W|ENST00000246104,p.R120W	protein_coding	uc002wec.3	nonsynonymous SNV	exon2	c.C358T	p.R120W	MDAFFISDGRSRRRRGGGGGDAGGS	MDAFFISDGRSRWRRGGGGGDAGGS	1.0	8.0	unscreened	-	3716_20:644881-644881 G>A_MDAFFISDGRSRWRRGGGGGDAGGS
6:84320380-84320380 G>A	0.0	3716	MELANOMA	-	-	-	-	SNAP91	ENST00000428679,p.P301S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000428679	nonsynonymous SNV	exon12	c.C901T	p.P301S	KPGNNKISGAPSPLSKSSPATTVTS	KPGNNKISGAPSSLSKSSPATTVTS	1.0	6.0	unscreened	-	3716_6:84320380-84320380 G>A_KPGNNKISGAPSSLSKSSPATTVTS
15:23811360-23811360 G>A	1.0	3716	MELANOMA	-	-	-	-	MKRN3	uc010ayi.1,p.S144N|ENST00000314520,p.S144N|uc001ywh.4,p.S144N|NM_005664,p.S144N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ayi.1	nonsynonymous SNV	exon1	c.G431A	p.S144N	VSPPGASAGGGPSTAAHIEPPTQEV	VSPPGASAGGGPNTAAHIEPPTQEV	6.0	6.0	-	-	3716_15:23811360-23811360 G>A_VSPPGASAGGGPNTAAHIEPPTQEV
3:161221126-161221126 G>T	0.0	3716	MELANOMA	-	-	-	-	OTOL1	ENST00000327928,p.S277I|NM_001080440,p.S277I|uc011bpb.2,p.S277I	protein_coding	uc011bpb.2	nonsynonymous SNV	exon4	c.G830T	p.S277I	KGSKGDSGMEGKSGRNGLPGAKGDP	KGSKGDSGMEGKIGRNGLPGAKGDP	1.0	3.0	unscreened	-	3716_3:161221126-161221126 G>T_KGSKGDSGMEGKIGRNGLPGAKGDP
6:43251068-43251068 G>A	0.0	3716	MELANOMA	-	-	-	-	TTBK1	ENST00000259750,p.A864T|uc003ouq.1,p.A864T|uc021yzs.1,p.A152T|NM_032538,p.A864T	protein_coding	uc021yzs.1	nonsynonymous SNV	exon1	c.G454A	p.A152T	ELAPDPDLGTLAALTPQHERPQPTG	ELAPDPDLGTLATLTPQHERPQPTG	1.0	3.0	unscreened	-	3716_6:43251068-43251068 G>A_ELAPDPDLGTLATLTPQHERPQPTG
8:119592995-119592995 C>T	0.0	3716	MELANOMA	-	-	-	-	SAMD12	uc010mda.1,p.G51R|ENST00000409003,p.G51R|ENST00000526328,p.G51R|NM_207506,p.G51R|NM_001101676,p.G51R|ENST00000314727,p.G51R|ENST00000524796,p.G43R|ENST00000445741,p.G51R|uc003yom.2,p.G51R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010mda.1	nonsynonymous SNV	exon2	c.G151A	p.G51R	KNKNFQKVPDQKGTPKRLQAEAETA	KNKNFQKVPDQKRTPKRLQAEAETA	1.0	2.0	unscreened	-	3716_8:119592995-119592995 C>T_KNKNFQKVPDQKRTPKRLQAEAETA
7:2976723-2976723 T>C	0.0	3716	MELANOMA	-	-	-	1	CARD11	NM_032415,p.N430S|ENST00000396946,p.N430S|uc003smv.3,p.N430S	retained_intron, protein_coding	uc003smv.3	nonsynonymous SNV	exon9	c.A1289G	p.N430S	RIEMVRREACIVNLESKLRRLSKDS	RIEMVRREACIVSLESKLRRLSKDS	2.0	6.0	unscreened	-	3716_7:2976723-2976723 T>C_RIEMVRREACIVSLESKLRRLSKDS
15:74659721-74659721 G>A	0.0	3716	MELANOMA	-	-	-	-	CYP11A1	ENST00000435365,p.T69M|uc010bjq.3,p.T69M|ENST00000541301,p.T69M|ENST00000416978,p.T69M|NM_000781,p.T69M|uc002axt.2,p.T69M|ENST00000268053,p.T69M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bjq.3	nonsynonymous SNV	exon1	c.C206T	p.T69M	NGWLNLYHFWRETGTHKVHLHHVQN	NGWLNLYHFWREMGTHKVHLHHVQN	1.0	3.0	unscreened	-	3716_15:74659721-74659721 G>A_NGWLNLYHFWREMGTHKVHLHHVQN
10:96698527-96698527 C>T	0.0	3716	MELANOMA	-	-	-	-	CYP2C9	NM_000771,p.P30S|uc001kjz.3,p.P30S|uc009xut.3,p.P30S|uc001kka.4,p.P30S|ENST00000260682,p.P30S	protein_coding, processed_transcript	uc009xut.3	nonsynonymous SNV	exon1	c.C88T	p.P30S	SLWRQSSGRGKLPPGPTPLPVIGNI	SLWRQSSGRGKLSPGPTPLPVIGNI	1.0	5.0	unscreened	-	3716_10:96698527-96698527 C>T_SLWRQSSGRGKLSPGPTPLPVIGNI
6:84320380-84320380 G>A	0.0	3716	MELANOMA	-	-	-	-	SNAP91	ENST00000520213,p.P285S|NM_001256717,p.P264S|uc003pkb.3,p.P264S|ENST00000520302,p.P299S|uc003pkd.3,p.P285S|NM_001242793,p.P299S|ENST00000521931,p.P299S|ENST00000437520,p.P285S|uc003pkc.3,p.P299S|NM_001242794,p.P285S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pkd.3	nonsynonymous SNV	exon10	c.C853T	p.P285S	GKKPGNKSGAPSPLSKSSPATTVTS	GKKPGNKSGAPSSLSKSSPATTVTS	1.0	6.0	unscreened	-	3716_6:84320380-84320380 G>A_GKKPGNKSGAPSSLSKSSPATTVTS
6:84320380-84320380 G>A	0.0	3716	MELANOMA	-	-	-	-	SNAP91	uc021zcf.1,p.P301S|ENST00000439399,p.P301S|ENST00000369694,p.P301S|NM_014841,p.P301S|NM_001242792,p.P301S|ENST00000521485,p.P301S|ENST00000521743,p.P301S|NM_001256718,p.P182S|ENST00000195649,p.P301S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zcf.1	nonsynonymous SNV	exon11	c.C901T	p.P301S	KPGNNEGSGAPSPLSKSSPATTVTS	KPGNNEGSGAPSSLSKSSPATTVTS	1.0	6.0	unscreened	-	3716_6:84320380-84320380 G>A_KPGNNEGSGAPSSLSKSSPATTVTS
12:13237906-13237906 C>T	0.0	3716	MELANOMA	0.01	-	-	-	GSG1	uc001rbp.3,p.G317R|ENST00000432710,p.G317R|ENST00000396310,p.G273R|ENST00000337630,p.G304R|uc001rbl.3,p.G276R|NM_153823,p.G304R|uc001rbm.3,p.G253R|ENST00000457134,p.G253R|NM_001206842,p.G317R|NM_001206843,p.G276R|NM_001080555,p.G340R|ENST00000324458,p.G340R|uc001rbn.3,p.G340R|ENST00000537302,p.G276R|NM_001206845,p.G253R|uc001rbj.3,p.G304R	protein_coding	uc001rbp.3	nonsynonymous SNV	exon6	c.G949A	p.G317R	EGVDFYSELRNKGFQRGASQELKEA	EGVDFYSELRNKRFQRGASQELKEA	2.0	7.0	unscreened	-	3716_12:13237906-13237906 C>T_EGVDFYSELRNKRFQRGASQELKEA
7:96635420-96635420 ->GCC	0.0	3716	MELANOMA	-	-	ID=COSM1723944;OCCURENCE=1(NS)	-	DLX6	NM_005222,p.Q44delinsQP|uc022ahu.1,p.Q44delinsQP|ENST00000518156,p.Q44delinsQP	protein_coding, processed_transcript	uc022ahu.1	nonframeshift insertion	exon1	c.131_132insGCC	p.Q44delinsQP	QQQQQQQQQQQQQPPPPPPPPPQPH	QQQQQQQQQQQQQPPPPPPPPPPQP	1.0	3.0	unscreened	-	3716_7:96635420-96635420 ->GCC_QQQQQQQQQQQQQPPPPPPPPPPQP
2:227915820-227915820 C>T	0.0	3716	MELANOMA	-	-	-	-	COL4A4	NM_000092,p.G1008E|uc021vxr.1,p.G1008E|uc021vxs.1,p.G1008E|ENST00000396625,p.G1008E|ENST00000329662,p.G1008E	protein_coding	uc021vxs.1	nonsynonymous SNV	exon33	c.G3023A	p.G1008E	GMQGRRGEPGRYGPPGFHRGEPGEK	GMQGRRGEPGRYEPPGFHRGEPGEK	1.0	6.0	unscreened	-	3716_2:227915820-227915820 C>T_GMQGRRGEPGRYEPPGFHRGEPGEK
6:84320380-84320380 G>A	0.0	3716	MELANOMA	-	-	-	-	SNAP91	uc011dzd.3,p.P180S|uc011dze.2,p.P299S|uc003pka.3,p.P299S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dze.2	nonsynonymous SNV	exon11	c.C895T	p.P299S	GKKPGNNEGSGAPSPLSKSSPATTV	GKKPGNNEGSGASSPLSKSSPATTV	1.0	6.0	unscreened	-	3716_6:84320380-84320380 G>A_GKKPGNNEGSGASSPLSKSSPATTV
13:103391538-103391538 C>T	0.0	3716	MELANOMA	-	-	-	-	CCDC168	NM_001146197,p.E3837K|uc001vpm.3,p.E3837K	protein_coding,antisense	uc001vpm.3	nonsynonymous SNV	exon4	c.G11509A	p.E3837K	HGKEPQRSNKKLEKMTQEDESNLNV	HGKEPQRSNKKLKKMTQEDESNLNV	1.0	4.0	unscreened	-	3716_13:103391538-103391538 C>T_HGKEPQRSNKKLKKMTQEDESNLNV
8:39535031-39535031 C>T	0.0	3716	MELANOMA	-	-	ID=COSM142132;OCCURENCE=1(skin)	-	ADAM18	uc003xni.3,p.S536L|ENST00000265707,p.S536L|uc010lwx.3,p.S512L|NM_014237,p.S536L|ENST00000379866,p.S512L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lwx.3	nonsynonymous SNV	exon14	c.C1535T	p.S512L	LHERSENCGFKNSQPLPCERKDVLC	LHERSENCGFKNLQPLPCERKDVLC	1.0	5.0	unscreened	-	3716_8:39535031-39535031 C>T_LHERSENCGFKNLQPLPCERKDVLC
9:75542087-75542087 T>A	0.0	3775	CERVICAL	-	-	-	-	ALDH1A1	ENST00000446946,p.N150I|ENST00000419959,p.N150I|NM_000689,p.N150I|uc011lsh.2,p.N71I|uc004ajd.3,p.N150I|ENST00000376939,p.N150I|ENST00000297785,p.N150I	protein_coding, processed_transcript	uc011lsh.2	nonsynonymous SNV	exon5	c.A212T	p.N71I	DKIQGRTIPIDGNFFTYTRHEPIGV	DKIQGRTIPIDGIFFTYTRHEPIGV	10.0	7.0	CD8	-	3775_9:75542087-75542087 T>A_DKIQGRTIPIDGIFFTYTRHEPIGV
1:150900253-150900253 G>C	1.0	3775	CERVICAL	-	-	-	-	SETDB1	ENST00000498193,p.E21D|ENST00000423081,p.E35D|ENST00000368963,p.E21D|uc001evv.2,p.E21D|ENST00000368964,p.E21D|ENST00000525956,p.E21D|ENST00000368969,p.E21D|ENST00000368962,p.E21D|NM_001243491,p.E21D|uc001evw.4,p.E21D|uc009wmf.2,p.E21D|NM_001145415,p.E21D|ENST00000534805,p.E21D|uc001evu.2,p.E21D|ENST00000271640,p.E21D|ENST00000448029,p.E21D|NM_012432,p.E21D|uc009wmg.2,p.E21D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009wmg.2	nonsynonymous SNV	exon2	c.G63C	p.E21D	GLDAATATVESEEIAELQQAVVEEL	GLDAATATVESEDIAELQQAVVEEL	9.0	8.0	CD8	-	3775_1:150900253-150900253 G>C_GLDAATATVESEDIAELQQAVVEEL
14:21463019-21463019 G>A	1.0	3775	CERVICAL	-	-	ID=COSM432821;OCCURENCE=1(breast)	-	METTL17	uc001vyo.3,p.E279K|ENST00000339374,p.E279K|uc001vym.3,p.E279K|uc001vyn.3,p.E279K|ENST00000556670,p.E279K|NM_022734,p.E279K|NM_001029991,p.E279K|ENST00000382985,p.E279K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001vyo.3	nonsynonymous SNV	exon9	c.G835A	p.E279K	SLSELPSKADRTEVVQTLWRKTGHF	SLSELPSKADRTKVVQTLWRKTGHF	10.0	10.0	CD8	-	3775_14:21463019-21463019 G>A_SLSELPSKADRTKVVQTLWRKTGHF
6:31324911-31324911 C>G	1.0	3775	CERVICAL	0.23	-	-	-	HLA-B	uc003nth.2,p.V9L|ENST00000412585,p.V9L|NM_005514,p.V9L|uc031snl.1,p.V9L|uc003ntf.2,p.V9L	retained_intron, protein_coding, nonsense_mediated_decay	uc031snl.1	nonsynonymous SNV	exon1	c.G25C	p.V9L	MLVMAPRTVLLLLSAALALTE	MLVMAPRTLLLLLSAALALTE	10.0	3.0	unscreened	-	3775_6:31324911-31324911 C>G_MLVMAPRTLLLLLSAALALTE
15:59516972-59516972 G>T	1.0	3775	CERVICAL	-	-	-	-	MYO1E	ENST00000288235,p.S231R|ENST00000559269,p.S61R|uc002aga.4,p.S231R|NM_004998,p.S231R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002aga.4	nonsynonymous SNV	exon8	c.C693A	p.S231R	ASAEQKHSLGITSMDYYYYLSLSGS	ASAEQKHSLGITRMDYYYYLSLSGS	9.0	6.0	-	-	3775_15:59516972-59516972 G>T_ASAEQKHSLGITRMDYYYYLSLSGS
10:18903468-18903468 C>T	1.0	3775	CERVICAL	-	-	-	-	NSUN6	NM_182543,p.D166N|uc010qcp.1,p.D166N|ENST00000377304,p.D166N	protein_coding, processed_transcript	uc010qcp.1	nonsynonymous SNV	exon5	c.G496A	p.D166N	IKGKCKKGAKEFDGTKVFLGNGISE	IKGKCKKGAKEFNGTKVFLGNGISE	6.0	9.0	-	-	3775_10:18903468-18903468 C>T_IKGKCKKGAKEFNGTKVFLGNGISE
8:23104249-23104249 G>A	1.0	3775	CERVICAL	-	-	-	-	CHMP7	NM_152272,p.G14E|ENST00000517325,p.G14E|ENST00000397677,p.G14E|ENST00000313219,p.G14E|ENST00000519984,p.G14E|ENST00000519414,p.G14E|uc003xdc.2,p.G14E|ENST00000519503,p.G14E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xdc.2	nonsynonymous SNV	exon2	c.G41A	p.G14E	WSPEREAEAPAGGDPAGLLPPEWEE	WSPEREAEAPAGEDPAGLLPPEWEE	8.0	7.0	-	-	3775_8:23104249-23104249 G>A_WSPEREAEAPAGEDPAGLLPPEWEE
15:101816827-101816827 G>C	1.0	3775	CERVICAL	0.0005	-	-	-	VIMP	NM_203472,p.L44V|ENST00000528346,p.L84V|ENST00000537379,p.L44V	retained_intron, protein_coding	NM_203472	nonsynonymous SNV	exon2	c.C130G	p.L44V	TYGWYIVFSCILLYVVFQKLSARLR	TYGWYIVFSCILVYVVFQKLSARLR	10.0	8.0	-	-	3775_15:101816827-101816827 G>C_TYGWYIVFSCILVYVVFQKLSARLR
4:8242519-8242519 T>C	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	NM_018986,p.L1283P|uc003gkv.4,p.L1283P|ENST00000245105,p.L1283P|uc003gkw.4,p.L1207P|ENST00000539824,p.L1207P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon18	c.T3620C	p.L1207P	GNKKAQLKIYTRLATIYHNFLLDRE	GNKKAQLKIYTRPATIYHNFLLDRE	7.0	4.0	unscreened	-	3775_4:8242519-8242519 T>C_GNKKAQLKIYTRPATIYHNFLLDRE
2:70070348-70070348 A>T	1.0	3775	CERVICAL	-	-	-	-	GMCL1	ENST00000282570,p.Y216F|NM_178439,p.Y216F|uc002sfu.3,p.Y216F	retained_intron, protein_coding, processed_transcript	uc002sfu.3	nonsynonymous SNV	exon5	c.A647T	p.Y216F	MKETVNVKTVCGYYTSAGTYGLDSV	MKETVNVKTVCGFYTSAGTYGLDSV	7.0	8.0	-	-	3775_2:70070348-70070348 A>T_MKETVNVKTVCGFYTSAGTYGLDSV
7:128632137-128632137 G>C	1.0	3775	CERVICAL	-	-	-	-	TNPO3	NM_001191028,p.S425C|ENST00000265388,p.S425C|uc010llz.2,p.S425C|uc003vom.2,p.S359C|ENST00000393245,p.S425C|ENST00000471166,p.S425C|NM_012470,p.S425C|ENST00000471234,p.S425C|uc003vol.2,p.S425C|ENST00000482320,p.S359C|uc010lly.2,p.S425C	protein_coding	uc010llz.2	nonsynonymous SNV	exon10	c.C1274G	p.S425C	LIGSMECFAQLYSTLKEGNPPWEVT	LIGSMECFAQLYCTLKEGNPPWEVT	7.0	10.0	-	-	3775_7:128632137-128632137 G>C_LIGSMECFAQLYCTLKEGNPPWEVT
4:8238125-8238125 C>T	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	ENST00000539824,p.H1100Y|uc003gkv.4,p.H1176Y|NM_018986,p.H1176Y|ENST00000245105,p.H1176Y|uc003gkw.4,p.H1100Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon16	c.C3298T	p.H1100Y	TLEEPQEGLEFAHMALALSITLGDR	TLEEPQEGLEFAYMALALSITLGDR	7.0	10.0	unscreened	-	3775_4:8238125-8238125 C>T_TLEEPQEGLEFAYMALALSITLGDR
14:97326950-97326950 C>T	1.0	3775	CERVICAL	-	-	-	-	VRK1	NM_003384,p.L316F|uc001yft.3,p.L316F|ENST00000216639,p.L316F	retained_intron, protein_coding, processed_transcript	uc001yft.3	nonsynonymous SNV	exon11	c.C946T	p.L316F	ETVKLLDYTEKPLYENLRDILLQGL	ETVKLLDYTEKPFYENLRDILLQGL	8.0	7.0	-	-	3775_14:97326950-97326950 C>T_ETVKLLDYTEKPFYENLRDILLQGL
1:33794623-33794623 G>A	1.0	3775	CERVICAL	-	-	-	-	PHC2	ENST00000373416,p.S222L|uc001bxf.1,p.S172L|ENST00000373422,p.S363L|uc009vuh.1,p.S758L|ENST00000257118,p.S757L|uc001bxg.1,p.S757L|NM_004427,p.S222L|uc001bxh.1,p.S729L|ENST00000431992,p.S728L|ENST00000419414,p.S758L|NM_198040,p.S757L|uc001bxe.1,p.S222L|ENST00000373418,p.S222L	protein_coding, processed_transcript	uc009vuh.1	nonsynonymous SNV	exon14	c.C2273T	p.S758L	SYEEPLSPISASSSTSRRRQGQRDL	SYEEPLSPISASLSTSRRRQGQRDL	9.0	9.0	-	-	3775_1:33794623-33794623 G>A_SYEEPLSPISASLSTSRRRQGQRDL
12:57039674-57039674 G>A	1.0	3775	CERVICAL	0.0009	-	ID=COSM1747157;OCCURENCE=2(urinary_tract)	-	ATP5B	ENST00000553007,p.S25L|ENST00000262030,p.S25L|NM_001686,p.S25L|ENST00000552919,p.S25L|ENST00000551020,p.S25L|uc001slr.3,p.S25L|ENST00000552104,p.S25L	protein_coding, processed_transcript	uc001slr.3	nonsynonymous SNV	exon1	c.C74T	p.S25L	ASGALRRLTPSASLPPAQLLLRAAP	ASGALRRLTPSALLPPAQLLLRAAP	10.0	6.0	-	-	3775_12:57039674-57039674 G>A_ASGALRRLTPSALLPPAQLLLRAAP
1:118165785-118165785 C>T	0.0	3775	CERVICAL	-	-	-	1	FAM46C	uc001ehe.3,p.L99F|NM_017709,p.L99F|uc021osq.1,p.L99F|ENST00000369448,p.L99F	protein_coding	uc021osq.1	nonsynonymous SNV	exon1	c.C295T	p.L99F	GCKDLDLIFHVALPTEAEFQLVRDV	GCKDLDLIFHVAFPTEAEFQLVRDV	8.0	7.0	-	-	3775_1:118165785-118165785 C>T_GCKDLDLIFHVAFPTEAEFQLVRDV
18:77794562-77794562 G>C	1.0	3775	CERVICAL	-	-	-	-	RBFA	ENST00000562771,p.D23H|uc010drh.3,p.D23H|NM_024805,p.D23H|uc002lns.3,p.D23H|ENST00000569722,p.D23H|ENST00000262197,p.D23H|ENST00000306735,p.D23H|NM_001171967,p.D23H	 protein_coding, processed_transcript,retained_intron	uc010drh.3	nonsynonymous SNV	exon1	c.G67C	p.D23H	SRAGLRALFRSRDAALFPGCERGLH	SRAGLRALFRSRHAALFPGCERGLH	7.0	7.0	-	-	3775_18:77794562-77794562 G>C_SRAGLRALFRSRHAALFPGCERGLH
4:8242531-8242531 A>C	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	ENST00000539824,p.Y1211S|ENST00000245105,p.Y1287S|NM_018986,p.Y1287S|uc003gkv.4,p.Y1287S|uc003gkw.4,p.Y1211S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon18	c.A3632C	p.Y1211S	AQLKIYTRLATIYHNFLLDREKSLF	AQLKIYTRLATISHNFLLDREKSLF	7.0	4.0	unscreened	-	3775_4:8242531-8242531 A>C_AQLKIYTRLATISHNFLLDREKSLF
19:45295649-45295649 C>G	1.0	3775	CERVICAL	-	-	-	1	CBLC	uc010ejt.3,p.Q293E|uc002ozs.3,p.Q339E|ENST00000270279,p.Q339E|NM_012116,p.Q339E|NM_001130852,p.Q293E|ENST00000341505,p.Q293E	protein_coding	uc010ejt.3	nonsynonymous SNV	exon6	c.C877G	p.Q293E	PQQRIHVSEEQLQLYWAMDSTFELC	PQQRIHVSEEQLELYWAMDSTFELC	6.0	6.0	-	-	3775_19:45295649-45295649 C>G_PQQRIHVSEEQLELYWAMDSTFELC
14:69356937-69356937 C>G	1.0	3775	CERVICAL	-	-	-	-	ACTN1	uc010ttd.1,p.E364Q|ENST00000193403,p.E385Q|uc001xkl.3,p.E385Q|NM_001130004,p.E385Q|NM_001102,p.E385Q|ENST00000376839,p.E320Q|uc001xko.1,p.E320Q|uc010ttb.2,p.E320Q|uc001xkm.3,p.E385Q|ENST00000538545,p.E385Q|ENST00000394419,p.E385Q|uc001xkn.3,p.E385Q|NM_001130005,p.E385Q|ENST00000438964,p.E385Q	retained_intron, protein_coding, processed_transcript	uc010ttd.1	nonsynonymous SNV	exon11	c.G1090C	p.E364Q	QVEKGYEEWLLNEIRRLERLDHLAE	QVEKGYEEWLLNQIRRLERLDHLAE	10.0	8.0	-	-	3775_14:69356937-69356937 C>G_QVEKGYEEWLLNQIRRLERLDHLAE
1:55266772-55266772 G>A	1.0	3775	CERVICAL	-	-	-	-	TTC22	NM_001114108,p.P22L|uc001cxz.4,p.P22L|ENST00000371276,p.P22L|uc009vzt.1,p.P22L|NM_017904,p.P22L|ENST00000371274,p.P22L	retained_intron, protein_coding	uc009vzt.1	nonsynonymous SNV	exon1	c.C65T	p.P22L	DLDALIDDLDYLPGHFHLEMQLNFE	DLDALIDDLDYLLGHFHLEMQLNFE	6.0	8.0	-	-	3775_1:55266772-55266772 G>A_DLDALIDDLDYLLGHFHLEMQLNFE
5:82833434-82833434 G>C	0.0	3775	CERVICAL	-	-	-	-	VCAN	ENST00000343200,p.E551Q|NM_001164097,p.E551Q|uc003kil.3,p.E202Q|uc003kii.3,p.E1538Q|ENST00000513960,p.E551Q|NM_004385,p.E1538Q|uc003kij.3,p.E551Q|ENST00000265077,p.E1538Q	retained_intron, protein_coding, processed_transcript	uc003kil.3	nonsynonymous SNV	exon1	c.G604C	p.E202Q	DTEVGHQAHEHTEPVSLFPEESSGE	DTEVGHQAHEHTQPVSLFPEESSGE	10.0	8.0	-	-	3775_5:82833434-82833434 G>C_DTEVGHQAHEHTQPVSLFPEESSGE
4:8230236-8230236 ->CA	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	ENST00000245105,p.G939fs|uc003gkw.4,p.G863fs|uc003gkv.4,p.G939fs|NM_018986,p.G939fs|ENST00000539824,p.G863fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	frameshift insertion	exon12	c.2587_2588insCA	p.G863fs	LEAVRLFSRLPLGECGRDFTHVLLQ	LEAVRLFSRLPLAGSVAGTSPTCSCSWAISAPARARPSRARATTSGPFWSPWRWATWRASCGPSSGCATSTAPSCPARPSVSSTMSSSSPWPARWPTRCWRGSSWRPSASSTCPWAPSGPTNPHWTTPNEVWGFSLTSRRKRRRRMPGCKQGRSITSCGRASWWTSTSRWHRTWPCTQATPTWGWSCLRRLETSSSTGPGSGRKLCPSTGTGPCPWQ	7.0	6.0	unscreened	-	3775_4:8230236-8230236 ->CA_LEAVRLFSRLPLAGSVAGTSPTCSCSWAISAPARARPSRARATTSGPFWSPWRWATWRASCGPSSGCATSTAPSCPARPSVSSTMSSSSPWPARWPTRCWRGSSWRPSASSTCPWAPSGPTNPHWTTPNEVWGFSLTSRRKRRRRMPGCKQGRSITSCGRASWWTSTSRWHRTWPCTQATPTWGWSCLRRLETSSSTGPGSGRKLCPSTGTGPCPWQ
X:44942752-44942752 G>C	1.0	3775	CERVICAL	-	-	-	1	KDM6A	uc011mla.2,p.R1066P|uc011mkz.2,p.R1163P|NM_001291417,p.R1066P|ENST00000536777,p.R1066P|uc004dge.4,p.R1111P|NM_001291416,p.R1118P|uc011mlc.2,p.R815P|NM_001291421,p.R815P|uc022bvj.1,p.R1032P|ENST00000377967,p.R1111P|NM_021140,p.R1111P|ENST00000543216,p.R1032P|uc011mlb.2,p.R1118P|NM_001291415,p.R1163P|NM_001291418,p.R1032P|ENST00000382899,p.R1118P|uc011mld.2,p.R750P	protein_coding, processed_transcript	uc022bvj.1	nonsynonymous SNV	exon21	c.G3095C	p.R1032P	QLHELTKLPAFVRVVSAGNLLSHVG	QLHELTKLPAFVPVVSAGNLLSHVG	9.0	6.0	-	-	3775_X:44942752-44942752 G>C_QLHELTKLPAFVPVVSAGNLLSHVG
4:8229490-8229490 G>A	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	NM_018986,p.R690Q|uc003gkw.4,p.R614Q|ENST00000539824,p.R614Q|uc003gkv.4,p.R690Q|ENST00000245105,p.R690Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon12	c.G1841A	p.R614Q	LKQPEEALPFLERLLLLHRDSGAPE	LKQPEEALPFLEQLLLLHRDSGAPE	7.0	1.0	unscreened	-	3775_4:8229490-8229490 G>A_LKQPEEALPFLEQLLLLHRDSGAPE
4:8229373-8229373 C>T	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	uc003gkw.4,p.A575V|NM_018986,p.A651V|uc003gkv.4,p.A651V|ENST00000539824,p.A575V|ENST00000245105,p.A651V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon12	c.C1724T	p.A575V	CSTEAEGELLQLALRRAVGGQSLQA	CSTEAEGELLQLVLRRAVGGQSLQA	7.0	3.0	unscreened	-	3775_4:8229373-8229373 C>T_CSTEAEGELLQLVLRRAVGGQSLQA
5:40762999-40762999 G>C	1.0	3775	CERVICAL	-	-	-	-	PRKAA1	NM_006251,p.L521V|NM_206907,p.L536V|uc003jmb.3,p.L536V|ENST00000354209,p.L536V|ENST00000397128,p.L521V|uc003jmc.3,p.L521V	retained_intron, protein_coding	uc003jmc.3	nonsynonymous SNV	exon9	c.C1561G	p.L521V	DAEAQGKSSEVSLTSSVTSLDSSPV	DAEAQGKSSEVSVTSSVTSLDSSPV	9.0	6.0	-	-	3775_5:40762999-40762999 G>C_DAEAQGKSSEVSVTSSVTSLDSSPV
17:19454753-19454753 T>C	0.0	3775	CERVICAL	-	-	-	-	SLC47A1	ENST00000542886,p.M172T	retained_intron, protein_coding, processed_transcript	ENST00000542886	nonsynonymous SNV	exon6	c.T515C	p.M172T	IFIPALPATFLYMLQVKYLLNQRLC	IFIPALPATFLYTLQVKYLLNQRLC	6.0	3.0	unscreened	-	3775_17:19454753-19454753 T>C_IFIPALPATFLYTLQVKYLLNQRLC
2:182766544-182766544 C>G	1.0	3775	CERVICAL	-	-	-	-	SSFA2	ENST00000409001,p.S255C|NM_001287504,p.S102C|NM_006751,p.S255C|ENST00000320370,p.S255C|uc002uoh.3,p.S255C|uc002uoi.3,p.S255C|NM_001287503,p.S255C|ENST00000428267,p.S102C|ENST00000431877,p.S255C|uc002uol.3,p.S102C|uc002uoj.3,p.S255C|NM_001130445,p.S255C|uc010zfo.2,p.S102C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zfo.2	nonsynonymous SNV	exon7	c.C305G	p.S102C	IEVLTTVANAFSSLYSQVSGTPLQR	IEVLTTVANAFSCLYSQVSGTPLQR	9.0	8.0	-	-	3775_2:182766544-182766544 C>G_IEVLTTVANAFSCLYSQVSGTPLQR
3:52090186-52090186 G>A	0.0	3775	CERVICAL	-	-	-	-	DUSP7	uc003dct.3,p.A66V|ENST00000495880,p.A66V|ENST00000296483,p.A15V|uc010hma.2,p.A66V|NM_001947,p.A66V	protein_coding	uc010hma.2	nonsynonymous SNV	exon1	c.C197T	p.A66V	CKSAEWLQEELEARGGASLLLLDCR	CKSAEWLQEELEVRGGASLLLLDCR	8.0	1.0	unscreened	-	3775_3:52090186-52090186 G>A_CKSAEWLQEELEVRGGASLLLLDCR
17:19454753-19454753 T>C	0.0	3775	CERVICAL	-	-	-	-	SLC47A1	uc002gvy.1,p.M172T|NM_018242,p.M172T|ENST00000457293,p.M172T|ENST00000395585,p.M172T|ENST00000436810,p.M149T|ENST00000270570,p.M172T|uc002gvx.3,p.M172T|uc010vyz.1,p.M149T	retained_intron, protein_coding, processed_transcript	uc010vyz.1	nonsynonymous SNV	exon5	c.T446C	p.M149T	IFIPALPATFLYMLQVKYLLNQGIV	IFIPALPATFLYTLQVKYLLNQGIV	6.0	3.0	unscreened	-	3775_17:19454753-19454753 T>C_IFIPALPATFLYTLQVKYLLNQGIV
6:53762155-53762155 C>G	1.0	3775	CERVICAL	-	-	-	-	LRRC1	NM_018214,p.Q214E|ENST00000370888,p.Q214E|uc003pcd.1,p.Q214E	protein_coding, processed_transcript, nonsense_mediated_decay	uc003pcd.1	nonsynonymous SNV	exon7	c.C640G	p.Q214E	LWLDGNQLSELPQEIGNLKNLLCLD	LWLDGNQLSELPEEIGNLKNLLCLD	8.0	5.0	-	-	3775_6:53762155-53762155 C>G_LWLDGNQLSELPEEIGNLKNLLCLD
22:42382100-42382100 C>G	1.0	3775	CERVICAL	-	-	-	-	SEPT3	ENST00000406029,p.I41M|ENST00000449288,p.I92M|NM_019106,p.I105M|uc003bbs.4,p.I105M|ENST00000396425,p.I105M|ENST00000396426,p.I105M|uc003bbr.4,p.I105M|NM_145733,p.I105M|ENST00000291236,p.I41M|uc011apj.2,p.I41M	retained_intron, protein_coding, nonsense_mediated_decay	uc011apj.2	nonsynonymous SNV	exon2	c.C123G	p.I41M	WNREEKIPKTVEIKAIGHVIEEGGV	WNREEKIPKTVEMKAIGHVIEEGGV	5.0	6.0	-	-	3775_22:42382100-42382100 C>G_WNREEKIPKTVEMKAIGHVIEEGGV
12:42593007-42593007 A>C	0.0	3775	CERVICAL	-	-	-	-	YAF2	ENST00000552109,p.F61L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000552109	nonsynonymous SNV	exon3	c.T183G	p.F61L	STRDNRKRAWLPFGGTILLAQASA	STRDNRKRAWLPLGGTILLAQASA	7.0	2.0	unscreened	-	3775_12:42593007-42593007 A>C_STRDNRKRAWLPLGGTILLAQASA
12:42593007-42593007 A>C	0.0	3775	CERVICAL	-	-	-	-	YAF2	ENST00000547351,p.F85L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000547351	nonsynonymous SNV	exon4	c.T255G	p.F85L	SGRDNRKRAWLPFGGTILLAQASA	SGRDNRKRAWLPLGGTILLAQASA	7.0	2.0	unscreened	-	3775_12:42593007-42593007 A>C_SGRDNRKRAWLPLGGTILLAQASA
3:195596389-195596389 G>C	1.0	3775	CERVICAL	-	-	-	-	TNK2	uc003fvr.1,p.Q33E|ENST00000381916,p.Q586E|NM_001010938,p.Q586E|uc003fvt.1,p.Q586E|ENST00000416152,p.Q75E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003fvt.1	nonsynonymous SNV	exon12	c.C1756G	p.Q586E	GGVKREPPPRPPQPAFFTQKPTYDP	GGVKREPPPRPPEPAFFTQKPTYDP	10.0	4.0	-	-	3775_3:195596389-195596389 G>C_GGVKREPPPRPPEPAFFTQKPTYDP
3:178968705-178968705 G>A	1.0	3775	CERVICAL	-	-	-	-	KCNMB3	uc003fjn.3,p.S25L|ENST00000392685,p.S25L|NM_171830,p.S25L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003fjn.3	nonsynonymous SNV	exon1	c.C74T	p.S25L	PSPFPQRTAFPASGKKRETDYSDGD	PSPFPQRTAFPALGKKRETDYSDGD	6.0	10.0	-	-	3775_3:178968705-178968705 G>A_PSPFPQRTAFPALGKKRETDYSDGD
X:54837432-54837432 G>A	0.0	3775	CERVICAL	-	-	-	-	MAGED2	ENST00000218439,p.R239Q|uc004dtl.1,p.R239Q|NM_177433,p.R239Q|ENST00000347546,p.R183Q|uc004dtn.1,p.R239Q|uc004dtk.1,p.R239Q|ENST00000375058,p.R239Q|ENST00000375053,p.R239Q|NM_201222,p.R239Q|uc004dto.1,p.R213Q|NM_014599,p.R239Q|ENST00000375068,p.R239Q|ENST00000396224,p.R239Q|ENST00000343474,p.R221Q	protein_coding, processed_transcript	uc004dto.1	nonsynonymous SNV	exon2	c.G638A	p.R213Q	RRASRTRLAAWARRALLSLRSPKAR	RRASRTRLAAWAQRALLSLRSPKAR	10.0	6.0	-	-	3775_X:54837432-54837432 G>A_RRASRTRLAAWAQRALLSLRSPKAR
2:131904274-131904274 C>T	0.0	3775	CERVICAL	-	-	ID=COSM1669253;OCCURENCE=1(large_intestine)	-	PLEKHB2	uc031rpf.1,p.A156V|NM_001267066,p.A163V|NM_001267067,p.A156V|uc010zap.2,p.A163V|NM_001267068,p.A155V|uc010zaq.2,p.A155V|ENST00000438882,p.A163V|ENST00000439822,p.A155V	retained_intron, protein_coding, processed_transcript	uc031rpf.1	nonsynonymous SNV	exon6	c.C467T	p.A156V	KSSFESAIETTTATWHWACWQEQPR	KSSFESAIETTTVTWHWACWQEQPR	9.0	1.0	unscreened	-	3775_2:131904274-131904274 C>T_KSSFESAIETTTVTWHWACWQEQPR
14:24586497-24586497 G>A	1.0	3775	CERVICAL	-	-	-	-	DCAF11	ENST00000560459,p.G84E|ENST00000558914,p.G84E|ENST00000396936,p.G24E|uc001wlz.3,p.G24E|uc001wmc.3,p.G24E|ENST00000560901,p.G84E|ENST00000559288,p.G84E|ENST00000559382,p.G84E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wmc.3	nonsynonymous SNV	exon3	c.G71A	p.G24E	DTTHLWMLPLTPGSWNSMRSRHKWN	DTTHLWMLPLTPESWNSMRSRHKWN	9.0	8.0	-	-	3775_14:24586497-24586497 G>A_DTTHLWMLPLTPESWNSMRSRHKWN
20:25456683-25456683 C>T	1.0	3775	CERVICAL	-	-	ID=COSM1713301;OCCURENCE=1(skin)	-	NINL	ENST00000278886,p.D1082N|NM_025176,p.D1082N|uc002wux.1,p.D1082N	protein_coding, processed_transcript	uc002wux.1	nonsynonymous SNV	exon17	c.G3244A	p.D1082N	RALEKHVDLRENDRLEFHRLSEENT	RALEKHVDLRENNRLEFHRLSEENT	8.0	7.0	-	-	3775_20:25456683-25456683 C>T_RALEKHVDLRENNRLEFHRLSEENT
3:48459347-48459347 T>A	0.0	3775	CERVICAL	-	-	-	-	PLXNB1	uc003csx.2,p.D1116V|uc003csw.2,p.D1116V|NM_002673,p.D1116V|ENST00000456774,p.D933V|uc003csu.2,p.D933V|NM_001130082,p.D1116V|ENST00000296440,p.D1116V|ENST00000358459,p.D933V|ENST00000358536,p.D1116V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003csx.2	nonsynonymous SNV	exon16	c.A3347T	p.D1116V	GMVTVAGVPCAVDAQEYEVSSSLVC	GMVTVAGVPCAVVAQEYEVSSSLVC	8.0	3.0	unscreened	-	3775_3:48459347-48459347 T>A_GMVTVAGVPCAVVAQEYEVSSSLVC
13:77629819-77629819 C>G	1.0	3775	CERVICAL	-	-	ID=COSM86568;OCCURENCE=1(ovary)	-	MYCBP2	uc021rks.1,p.M4507I|uc001vke.3,p.M1086I|ENST00000544440,p.M4469I|NM_015057,p.M4507I|uc010aev.3,p.M3873I|ENST00000407578,p.M4507I|ENST00000357337,p.M4469I	protein_coding, processed_transcript	uc021rks.1	nonsynonymous SNV	exon80	c.G13521C	p.M4507I	KELYEDVRRKALMRLEYEGLHKSEA	KELYEDVRRKALIRLEYEGLHKSEA	9.0	6.0	-	-	3775_13:77629819-77629819 C>G_KELYEDVRRKALIRLEYEGLHKSEA
4:8239315-8239315 C>T	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	uc003gkw.4,p.S1148L|uc003gkv.4,p.S1224L|NM_018986,p.S1224L|ENST00000539824,p.S1148L|ENST00000245105,p.S1224L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon17	c.C3443T	p.S1148L	EHFYLKALSLCNSPLEFDEETLYYV	EHFYLKALSLCNLPLEFDEETLYYV	7.0	3.0	unscreened	-	3775_4:8239315-8239315 C>T_EHFYLKALSLCNLPLEFDEETLYYV
12:113545997-113545997 G>C	1.0	3775	CERVICAL	-	-	-	-	RASAL1	ENST00000546530,p.L470V|NM_001193520,p.L470V|uc001tun.2,p.L470V	retained_intron, protein_coding, processed_transcript	uc001tun.2	nonsynonymous SNV	exon15	c.C1408G	p.L470V	QQDVKYLAISGFLFLRFFAPAILTP	QQDVKYLAISGFVFLRFFAPAILTP	5.0	10.0	-	-	3775_12:113545997-113545997 G>C_QQDVKYLAISGFVFLRFFAPAILTP
12:113545997-113545997 G>C	1.0	3775	CERVICAL	-	-	-	-	RASAL1	NM_004658,p.L469V|uc001tuo.4,p.L469V|uc001tum.2,p.L469V|uc010syq.2,p.L469V|ENST00000261729,p.L469V|uc001tul.3,p.L469V|uc010syr.2,p.L469V|NM_001193521,p.L469V|NM_001301202,p.L469V|ENST00000446861,p.L469V|uc010syp.2,p.L469V|ENST00000548055,p.L469V	retained_intron, protein_coding, processed_transcript	uc010syr.2	nonsynonymous SNV	exon14	c.C1405G	p.L469V	HQDVKYLAISGFLFLRFFAPAILTP	HQDVKYLAISGFVFLRFFAPAILTP	5.0	10.0	-	-	3775_12:113545997-113545997 G>C_HQDVKYLAISGFVFLRFFAPAILTP
12:57032906-57032906 G>T	1.0	3775	CERVICAL	-	-	-	-	ATP5B	NM_001686,p.F491L|ENST00000552104,p.F194L|ENST00000552919,p.F480L|ENST00000262030,p.F491L|uc001slr.3,p.F491L	protein_coding, processed_transcript	uc001slr.3	nonsynonymous SNV	exon9	c.C1473A	p.F491L	GKLVPLKETIKGFQQILAGEYDHLP	GKLVPLKETIKGLQQILAGEYDHLP	10.0	9.0	-	-	3775_12:57032906-57032906 G>T_GKLVPLKETIKGLQQILAGEYDHLP
1:36859475-36859475 C>T	1.0	3775	CERVICAL	-	-	-	-	LSM10	uc021olj.1,p.D86N|NM_032881,p.D86N|uc001cao.1,p.D86N|ENST00000315732,p.D86N	protein_coding, processed_transcript	uc021olj.1	nonsynonymous SNV	exon1	c.G256A	p.D86N	VTGRNVRYVHIPDDVNITSTIEQQL	VTGRNVRYVHIPNDVNITSTIEQQL	8.0	7.0	-	-	3775_1:36859475-36859475 C>T_VTGRNVRYVHIPNDVNITSTIEQQL
4:8239299-8239299 C>G	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	uc003gkw.4,p.L1143V|NM_018986,p.L1219V|uc003gkv.4,p.L1219V|ENST00000539824,p.L1143V|ENST00000245105,p.L1219V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon17	c.C3427G	p.L1143V	HGELAEHFYLKALSLCNSPLEFDEE	HGELAEHFYLKAVSLCNSPLEFDEE	7.0	2.0	unscreened	-	3775_4:8239299-8239299 C>G_HGELAEHFYLKAVSLCNSPLEFDEE
17:78357508-78357508 A>T	0.0	3775	CERVICAL	-	-	-	1	RNF213	ENST00000582970,p.N4701I|NM_001256071,p.N4701I|ENST00000336301,p.N2774I|uc021uen.2,p.N4701I|ENST00000508628,p.N4750I	retained_intron, protein_coding, processed_transcript	uc021uen.2	nonsynonymous SNV	exon59	c.A14102T	p.N4701I	LEHLDKTLPTMNNLISQDKRISSNP	LEHLDKTLPTMNILISQDKRISSNP	10.0	1.0	unscreened	-	3775_17:78357508-78357508 A>T_LEHLDKTLPTMNILISQDKRISSNP
4:8226940-8226940 A>C	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	ENST00000539824,p.K352Q|ENST00000245105,p.K428Q|uc003gkw.4,p.K352Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon11	c.A1054C	p.K352Q	SVEEAETEQPQEKEIPPPCLSLEPQ	SVEEAETEQPQEQEIPPPCLSLEPQ	7.0	2.0	unscreened	-	3775_4:8226940-8226940 A>C_SVEEAETEQPQEQEIPPPCLSLEPQ
1:247264325-247264325 G>-	0.0	3775	CERVICAL	-	-	-	-	ZNF669	ENST00000448299,p.A163fs|uc001ice.2,p.A249fs|uc001icf.2,p.A163fs|NM_001142572,p.A163fs|NM_024804,p.A249fs|ENST00000343381,p.A249fs	protein_coding	uc001icf.2	frameshift deletion	exon4	c.488delC	p.A163fs	VRRHMIMHSGNPAYKCTICGKAFYF	VRRHMIMHSGNPVINVRYVGKLFIFSIQLKDIRELTQEKNPINVNNVVKHSLFPVLV	5.0	4.0	unscreened	-	3775_1:247264325-247264325 G>-_VRRHMIMHSGNPVINVRYVGKLFIFSIQLKDIRELTQEKNPINVNNVVKHSLFPVLV
19:15563543-15563543 T>G	0.0	3775	CERVICAL	-	-	-	-	RASAL3	ENST00000343625,p.Q918H|uc002nbd.3,p.Q258H|NM_022904,p.Q918H|uc002nbe.2,p.Q918H	retained_intron, protein_coding, processed_transcript	uc002nbe.2	nonsynonymous SNV	exon16	c.A2754C	p.Q918H	KVLSRLVESLSTQIRALTEQQEQLR	KVLSRLVESLSTHIRALTEQQEQLR	9.0	2.0	unscreened	-	3775_19:15563543-15563543 T>G_KVLSRLVESLSTHIRALTEQQEQLR
11:111631655-111631655 G>C	0.0	3775	CERVICAL	-	-	-	-	PPP2R1B	uc010rwi.1,p.L79V|ENST00000341980,p.L143V|ENST00000311129,p.L143V|uc001plw.1,p.L143V|NM_181700,p.L79V|ENST00000426998,p.L79V|NM_181699,p.L143V|ENST00000527614,p.L143V|uc010rwk.1,p.L143V|NM_002716,p.L143V|uc001plx.1,p.L143V|NM_001177562,p.L143V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rwk.1	nonsynonymous SNV	exon4	c.C427G	p.L143V	HTPVALEAYFVPLVKRLASGDWFTS	HTPVALEAYFVPVVKRLASGDWFTS	6.0	9.0	-	-	3775_11:111631655-111631655 G>C_HTPVALEAYFVPVVKRLASGDWFTS
7:129348939-129348939 G>C	1.0	3775	CERVICAL	-	-	-	-	NRF1	NM_001040110,p.E211Q|uc003vpa.3,p.E211Q|ENST00000353868,p.E211Q|ENST00000223190,p.E211Q|uc003voz.3,p.E211Q|uc011kpa.2,p.E50Q|NM_001293163,p.E211Q|ENST00000393231,p.E211Q|ENST00000393232,p.E211Q|ENST00000393230,p.E211Q|ENST00000311967,p.E211Q|NM_005011,p.E211Q|NM_001293164,p.E50Q|ENST00000539636,p.E50Q|uc003vpb.3,p.E211Q	protein_coding, processed_transcript	uc011kpa.2	nonsynonymous SNV	exon5	c.G148C	p.E50Q	KMTQAQLRAFIPEMLKYSTGRGKPG	KMTQAQLRAFIPQMLKYSTGRGKPG	6.0	9.0	-	-	3775_7:129348939-129348939 G>C_KMTQAQLRAFIPQMLKYSTGRGKPG
8:81897325-81897325 T>C	0.0	3775	CERVICAL	-	-	-	-	PAG1	NM_018440,p.K188E|ENST00000220597,p.K188E|uc003ybz.3,p.K188E	retained_intron, protein_coding, processed_transcript	uc003ybz.3	nonsynonymous SNV	exon7	c.A562G	p.K188E	VEDCLYETVKEIKEVAAAAHLEKGH	VEDCLYETVKEIEEVAAAAHLEKGH	8.0	10.0	-	-	3775_8:81897325-81897325 T>C_VEDCLYETVKEIEEVAAAAHLEKGH
17:40950539-40950539 C>T	1.0	3775	CERVICAL	-	-	-	-	COA3	ENST00000328434,p.R54Q|ENST00000586680,p.R54Q|uc002ibl.4,p.R54Q|NM_001040431,p.R54Q	protein_coding, nonsense_mediated_decay	uc002ibl.4	nonsynonymous SNV	exon1	c.G161A	p.R54Q	ELAQWQKVLPRRRTRNIVTGLGIGA	ELAQWQKVLPRRQTRNIVTGLGIGA	10.0	7.0	-	-	3775_17:40950539-40950539 C>T_ELAQWQKVLPRRQTRNIVTGLGIGA
4:8229255-8229255 C>T	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	NM_018986,p.R612W|uc003gkw.4,p.R536W|uc003gkv.4,p.R612W|ENST00000245105,p.R612W|ENST00000539824,p.R536W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon12	c.C1606T	p.R536W	VVAVYANLASIYRKQKNREKCAQVV	VVAVYANLASIYWKQKNREKCAQVV	7.0	6.0	unscreened	-	3775_4:8229255-8229255 C>T_VVAVYANLASIYWKQKNREKCAQVV
17:37234201-37234201 G>A	0.0	3775	CERVICAL	-	-	-	-	PLXDC1	uc010cvr.1,p.S92F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cvr.1	nonsynonymous SNV	exon4	c.C275T	p.S92F	SFSPYDGDLTTTSSSLFIDSLTTEG	SFSPYDGDLTTTFSSLFIDSLTTEG	8.0	8.0	-	-	3775_17:37234201-37234201 G>A_SFSPYDGDLTTTFSSLFIDSLTTEG
17:37234201-37234201 G>A	0.0	3775	CERVICAL	-	-	-	-	PLXDC1	ENST00000315392,p.S384F|NM_020405,p.S384F|uc002hrg.2,p.S384F|ENST00000444911,p.S344F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002hrg.2	nonsynonymous SNV	exon11	c.C1151T	p.S384F	SFSPYDGDLTTTSSSLFIDSLTTED	SFSPYDGDLTTTFSSLFIDSLTTED	8.0	8.0	-	-	3775_17:37234201-37234201 G>A_SFSPYDGDLTTTFSSLFIDSLTTED
2:128610523-128610523 C>G	0.0	3775	CERVICAL	-	-	-	-	POLR2D	ENST00000272645,p.R77T|ENST00000409698,p.R39T|uc002tpj.3,p.R77T|NM_004805,p.R77T	protein_coding, processed_transcript	uc002tpj.3	nonsynonymous SNV	exon2	c.G230C	p.R77T	LNYTARFSRFKNRETIASVRSLLLQ	LNYTARFSRFKNTETIASVRSLLLQ	7.0	1.0	unscreened	-	3775_2:128610523-128610523 C>G_LNYTARFSRFKNTETIASVRSLLLQ
4:8230233-8230234 CT>-	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	NM_018986,p.L938fs|uc003gkw.4,p.L862fs|uc003gkv.4,p.L938fs|ENST00000539824,p.L862fs|ENST00000245105,p.L938fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	frameshift deletion	exon12	c.2584_2585del	p.L862fs	LLEAVRLFSRLPLGECGRDFTHVLL	LLEAVRLFSRLPWGVWPGLHPRAPAAGPSLHPPGPGPAGQGLLRVGPSGRRGDGPRGEPAAGRPAAVPLLQRRHAQRGPVCHLP	7.0	6.0	unscreened	-	3775_4:8230233-8230234 CT>-_LLEAVRLFSRLPWGVWPGLHPRAPAAGPSLHPPGPGPAGQGLLRVGPSGRRGDGPRGEPAAGRPAAVPLLQRRHAQRGPVCHLP
2:128610523-128610523 C>G	0.0	3775	CERVICAL	-	-	-	-	POLR2D	ENST00000409955,p.R77T	protein_coding, processed_transcript	ENST00000409955	nonsynonymous SNV	exon2	c.G230C	p.R77T	LNYTARFSRFKNRETIASVRSLEGR	LNYTARFSRFKNTETIASVRSLEGR	7.0	1.0	unscreened	-	3775_2:128610523-128610523 C>G_LNYTARFSRFKNTETIASVRSLEGR
4:8229733-8229733 A>G	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	ENST00000539824,p.Q695R|uc003gkw.4,p.Q695R|uc003gkv.4,p.Q771R|ENST00000245105,p.Q771R|NM_018986,p.Q771R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon12	c.A2084G	p.Q695R	HSLPAQTSHYLRQALASLTPGTGQA	HSLPAQTSHYLRRALASLTPGTGQA	7.0	6.0	unscreened	-	3775_4:8229733-8229733 A>G_HSLPAQTSHYLRRALASLTPGTGQA
3:178968705-178968705 G>A	1.0	3775	CERVICAL	-	-	-	-	KCNMB3	NM_001163677,p.S27L|uc003fjp.1,p.S27L|ENST00000497599,p.S27L|ENST00000349697,p.S27L|NM_171828,p.S27L|uc011bqc.1,p.S27L	protein_coding, processed_transcript, nonsense_mediated_decay	uc011bqc.1	nonsynonymous SNV	exon2	c.C80T	p.S27L	SRRRQGRTAFPASGKKRETDYSDGD	SRRRQGRTAFPALGKKRETDYSDGD	6.0	10.0	-	-	3775_3:178968705-178968705 G>A_SRRRQGRTAFPALGKKRETDYSDGD
4:8229823-8229823 G>A	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	NM_018986,p.C801Y|uc003gkv.4,p.C801Y|uc003gkw.4,p.C725Y|ENST00000245105,p.C801Y|ENST00000539824,p.C725Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon12	c.G2174A	p.C725Y	YTSLAQLYSHHGCHGPAITFMTQAV	YTSLAQLYSHHGYHGPAITFMTQAV	7.0	4.0	unscreened	-	3775_4:8229823-8229823 G>A_YTSLAQLYSHHGYHGPAITFMTQAV
8:145535822-145535822 T>C	0.0	3775	CERVICAL	-	-	-	-	HSF1	NM_005526,p.V345A|ENST00000528838,p.V345A|uc003zbt.4,p.V345A|ENST00000400780,p.V280A	retained_intron, protein_coding, processed_transcript	uc003zbt.4	nonsynonymous SNV	exon9	c.T1034C	p.V345A	SILRESEPAPASVTALTDARGHTDT	SILRESEPAPASATALTDARGHTDT	9.0	2.0	unscreened	-	3775_8:145535822-145535822 T>C_SILRESEPAPASATALTDARGHTDT
4:8237176-8237176 C>T	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	NM_018986,p.A1100V|uc003gkw.4,p.A1024V|uc003gkv.4,p.A1100V|ENST00000245105,p.A1100V|ENST00000539824,p.A1024V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon15	c.C3071T	p.A1024V	LVDLYIQVAQNVALYTGDPNLGLEL	LVDLYIQVAQNVVLYTGDPNLGLEL	7.0	6.0	unscreened	-	3775_4:8237176-8237176 C>T_LVDLYIQVAQNVVLYTGDPNLGLEL
13:99484037-99484037 G>C	1.0	3775	CERVICAL	-	-	-	-	DOCK9	uc010tir.1,p.Q1418E|ENST00000449796,p.Q161E|uc010tio.1,p.Q110E|uc010tip.1,p.Q128E|ENST00000340449,p.Q61E|uc001vnr.2,p.Q61E|ENST00000376460,p.Q1417E|uc001vnw.2,p.Q1417E|uc001vnt.2,p.Q1418E|uc021rlw.1,p.Q1417E|uc010tin.1,p.Q61E|ENST00000339416,p.Q1418E|uc010tiq.1,p.Q396E	protein_coding, processed_transcript	uc021rlw.1	nonsynonymous SNV	exon40	c.C4249G	p.Q1417E	DTLSLFTLAFKNQLLADHGHNPLMK	DTLSLFTLAFKNELLADHGHNPLMK	9.0	5.0	-	-	3775_13:99484037-99484037 G>C_DTLSLFTLAFKNELLADHGHNPLMK
4:8229105-8229105 C>T	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	uc003gkv.4,p.L562F|NM_018986,p.L562F|ENST00000245105,p.L562F|uc003gkw.4,p.L486F|ENST00000539824,p.L486F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon12	c.C1456T	p.L486F	AKKAGLLMALARLCFLLGRLCSRRL	AKKAGLLMALARFCFLLGRLCSRRL	7.0	2.0	unscreened	-	3775_4:8229105-8229105 C>T_AKKAGLLMALARFCFLLGRLCSRRL
3:178968705-178968705 G>A	1.0	3775	CERVICAL	-	-	-	-	KCNMB3	uc003fjm.3,p.S29L|ENST00000314235,p.S29L|NM_014407,p.S29L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003fjm.3	nonsynonymous SNV	exon2	c.C86T	p.S29L	ILLTRHRTAFPASGKKRETDYSDGD	ILLTRHRTAFPALGKKRETDYSDGD	6.0	10.0	-	-	3775_3:178968705-178968705 G>A_ILLTRHRTAFPALGKKRETDYSDGD
3:178968705-178968705 G>A	1.0	3775	CERVICAL	-	-	-	-	KCNMB3	uc003fjo.3,p.S7L|ENST00000392686,p.S7L|ENST00000485523,p.S7L|NM_171829,p.S7L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003fjo.3	nonsynonymous SNV	exon2	c.C20T	p.S7L	MTAFPASGKKRETDYSDGD	MTAFPALGKKRETDYSDGD	6.0	10.0	-	-	3775_3:178968705-178968705 G>A_MTAFPALGKKRETDYSDGD
1:100889855-100889855 C>G	0.0	3775	CERVICAL	-	-	-	-	CDC14A	uc009wee.3,p.F129L|ENST00000544534,p.F129L|ENST00000361544,p.F129L|uc001dtf.2,p.F129L|NM_033312,p.F129L|uc001dtg.4,p.F129L|ENST00000455467,p.F130L|NM_033313,p.F129L|ENST00000542213,p.F71L|uc001dte.4,p.F129L|ENST00000336454,p.F129L|ENST00000370124,p.F129L|uc010oui.1,p.F71L|NM_003672,p.F129L|ENST00000370125,p.F129L	protein_coding, processed_transcript	uc010oui.1	nonsynonymous SNV	exon5	c.C213G	p.F71L	ALLSGSNPPYLPFRDASFGNCTYNL	ALLSGSNPPYLPLRDASFGNCTYNL	6.0	8.0	-	-	3775_1:100889855-100889855 C>G_ALLSGSNPPYLPLRDASFGNCTYNL
5:14601175-14601175 G>A	0.0	3775	CERVICAL	-	-	-	-	FAM105A	NM_019018,p.V56M|uc003jfj.3,p.V56M|ENST00000274217,p.V56M	protein_coding, processed_transcript	uc003jfj.3	nonsynonymous SNV	exon2	c.G166A	p.V56M	AKGFVMLAVSFLVAAICYFRRLHLY	AKGFVMLAVSFLMAAICYFRRLHLY	8.0	1.0	unscreened	-	3775_5:14601175-14601175 G>A_AKGFVMLAVSFLMAAICYFRRLHLY
4:8233744-8233744 G>A	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	ENST00000245105,p.A998T|ENST00000539824,p.A922T|uc003gkv.4,p.A998T|uc003gkw.4,p.A922T|NM_018986,p.A998T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon13	c.G2764A	p.A922T	LRAVQRLCHFYSAVMPSEAQCVIYH	LRAVQRLCHFYSTVMPSEAQCVIYH	7.0	2.0	unscreened	-	3775_4:8233744-8233744 G>A_LRAVQRLCHFYSTVMPSEAQCVIYH
4:8239250-8239250 A>C	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	uc003gkw.4,p.Q1126H|ENST00000539824,p.Q1126H|uc003gkv.4,p.Q1202H|NM_018986,p.Q1202H|ENST00000245105,p.Q1202H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon17	c.A3378C	p.Q1126H	NERVAYHRLAALQHRLGHGELAEHF	NERVAYHRLAALHHRLGHGELAEHF	7.0	5.0	unscreened	-	3775_4:8239250-8239250 A>C_NERVAYHRLAALHHRLGHGELAEHF
4:8242561-8242561 C>G	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	uc003gkv.4,p.S1297W|NM_018986,p.S1297W|ENST00000539824,p.S1221W|ENST00000245105,p.S1297W|uc003gkw.4,p.S1221W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon18	c.C3662G	p.S1221W	TIYHNFLLDREKSLFFYQKARTFAT	TIYHNFLLDREKWLFFYQKARTFAT	7.0	4.0	unscreened	-	3775_4:8242561-8242561 C>G_TIYHNFLLDREKWLFFYQKARTFAT
5:178310049-178310049 C>T	1.0	3775	CERVICAL	-	-	-	-	ZNF354B	uc003mjl.3,p.S199L|ENST00000322434,p.S199L|uc003mjm.3,p.S199L|NM_058230,p.S199L	protein_coding, processed_transcript	uc003mjm.3	nonsynonymous SNV	exon4	c.C596T	p.S199L	KCEIQRNSFKQNSNLLNQSKIKTAE	KCEIQRNSFKQNLNLLNQSKIKTAE	7.0	10.0	-	-	3775_5:178310049-178310049 C>T_KCEIQRNSFKQNLNLLNQSKIKTAE
4:8233732-8233732 C>T	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	NM_018986,p.H994Y|uc003gkw.4,p.H918Y|uc003gkv.4,p.H994Y|ENST00000245105,p.H994Y|ENST00000539824,p.H918Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon13	c.C2752T	p.H918Y	VESQLRAVQRLCHFYSAVMPSEAQC	VESQLRAVQRLCYFYSAVMPSEAQC	7.0	4.0	unscreened	-	3775_4:8233732-8233732 C>T_VESQLRAVQRLCYFYSAVMPSEAQC
4:153269853-153269853 A>C	0.0	3775	CERVICAL	-	-	-	1	FBXW7	uc011cih.2,p.L10R|ENST00000393956,p.L10R	protein_coding	uc011cih.2	nonsynonymous SNV	exon1	c.T29G	p.L10R	MLFFKCISLLLIWLIPGQSTTG	MLFFKCISLRLIWLIPGQSTTG	7.0	3.0	-	-	3775_4:153269853-153269853 A>C_MLFFKCISLRLIWLIPGQSTTG
17:19454753-19454753 T>C	0.0	3775	CERVICAL	-	-	-	-	SLC47A1	ENST00000571335,p.C24R|uc010cqq.1,p.C24R	retained_intron, protein_coding, processed_transcript	uc010cqq.1	nonsynonymous SNV	exon3	c.T70C	p.C24R	SSFQLFLQPFFICYKLNICSTRLSS	SSFQLFLQPFFIRYKLNICSTRLSS	6.0	3.0	unscreened	-	3775_17:19454753-19454753 T>C_SSFQLFLQPFFIRYKLNICSTRLSS
17:72759630-72759630 G>C	1.0	3775	CERVICAL	-	-	-	-	SLC9A3R1	ENST00000262613,p.R243T|uc002jlo.4,p.R243T|ENST00000413388,p.R87T|NM_004252,p.R243T	retained_intron, protein_coding, nonsense_mediated_decay	uc002jlo.4	nonsynonymous SNV	exon3	c.G728C	p.R243T	VDRETDEFFKKCRVIPSQEHLNGPL	VDRETDEFFKKCTVIPSQEHLNGPL	10.0	8.0	-	-	3775_17:72759630-72759630 G>C_VDRETDEFFKKCTVIPSQEHLNGPL
10:96342781-96342781 G>C	1.0	3775	CERVICAL	-	-	-	-	HELLS	ENST00000371332,p.E431Q|NM_001289067,p.E431Q|uc009xuo.3,p.E431Q	retained_intron, protein_coding, processed_transcript	uc009xuo.3	nonsynonymous SNV	exon12	c.G1291C	p.E431Q	SLSETAEDIIAKEREQNVLHMLHQE	SLSETAEDIIAKQREQNVLHMLHQE	9.0	7.0	-	-	3775_10:96342781-96342781 G>C_SLSETAEDIIAKQREQNVLHMLHQE
1:247264128-247264128 A>G	0.0	3775	CERVICAL	-	-	-	-	ZNF669	NM_024804,p.F315L|uc001icf.2,p.F229L|NM_001142572,p.F229L|ENST00000448299,p.F229L|ENST00000343381,p.F315L|uc001ice.2,p.F315L	protein_coding	uc001icf.2	nonsynonymous SNV	exon4	c.T685C	p.F229L	EKPYECKECGKTFRFSCSFKTHERT	EKPYECKECGKTLRFSCSFKTHERT	5.0	3.0	unscreened	-	3775_1:247264128-247264128 A>G_EKPYECKECGKTLRFSCSFKTHERT
9:114415444-114415444 G>C	1.0	3775	CERVICAL	-	-	-	-	DNAJC25	ENST00000313525,p.R342T|uc004bfl.3,p.R342T|uc004bfm.3,p.R220T|NM_001015882,p.R342T	protein_coding, nonsense_mediated_decay	uc004bfm.3	nonsynonymous SNV	exon5	c.G659C	p.R220T	LKKKLANDPRWKRYRRWMKNEGPGR	LKKKLANDPRWKTYRRWMKNEGPGR	6.0	6.0	-	-	3775_9:114415444-114415444 G>C_LKKKLANDPRWKTYRRWMKNEGPGR
3:52005499-52005499 C>T	0.0	3775	CERVICAL	-	-	-	-	ABHD14B	ENST00000315877,p.R63Q	retained_intron, protein_coding, processed_transcript	ENST00000315877	nonsynonymous SNV	exon2	c.G188A	p.R63Q	LGTLHRLAQAGYRAVAIDLPGLKGE	LGTLHRLAQAGYQAVAIDLPGLKGE	9.0	2.0	unscreened	-	3775_3:52005499-52005499 C>T_LGTLHRLAQAGYQAVAIDLPGLKGE
3:52005499-52005499 C>T	0.0	3775	CERVICAL	-	-	-	-	ABHD14B	uc003dcm.3,p.R63Q|uc003dcn.3,p.R63Q|ENST00000483233,p.R63Q|NM_001146314,p.R63Q|ENST00000461108,p.R63Q|ENST00000395008,p.R63Q|uc011bdy.2,p.R63Q|NM_032750,p.R63Q|uc011bdz.1,p.R63Q|ENST00000525795,p.R63Q|ENST00000361143,p.R63Q	retained_intron, protein_coding, processed_transcript	uc011bdz.1	nonsynonymous SNV	exon2	c.G188A	p.R63Q	LGTLHRLAQAGYRAVAIDLPGLGHS	LGTLHRLAQAGYQAVAIDLPGLGHS	9.0	2.0	unscreened	-	3775_3:52005499-52005499 C>T_LGTLHRLAQAGYQAVAIDLPGLGHS
20:3765978-3765978 G>A	1.0	3775	CERVICAL	-	-	-	-	CENPB	ENST00000379751,p.R385C|NM_001810,p.R385C|uc002wjk.3,p.R385C	protein_coding	uc002wjk.3	nonsynonymous SNV	exon1	c.C1153T	p.R385C	QAVEPSDIAACFREAGFGGGPNATI	QAVEPSDIAACFCEAGFGGGPNATI	9.0	7.0	-	-	3775_20:3765978-3765978 G>A_QAVEPSDIAACFCEAGFGGGPNATI
5:140603505-140603505 C>T	0.0	3775	CERVICAL	-	-	-	-	PCDHB14	ENST00000239449,p.S143L|uc003ljb.3,p.S143L|NM_018934,p.S143L	protein_coding	uc003ljb.3	nonsynonymous SNV	exon1	c.C428T	p.S143L	PTFLDKEILIKISEGTTVGATFLME	PTFLDKEILIKILEGTTVGATFLME	6.0	4.0	-	-	3775_5:140603505-140603505 C>T_PTFLDKEILIKILEGTTVGATFLME
1:82408767-82408767 A>C	0.0	3775	CERVICAL	-	-	-	-	LPHN2	ENST00000370717,p.Y171S|NM_001297705,p.Y171S|ENST00000335786,p.Y171S|ENST00000359929,p.Y171S|ENST00000370715,p.Y171S|ENST00000370713,p.Y171S|uc001dit.4,p.Y171S|uc001diu.3,p.Y171S|ENST00000394879,p.Y171S|ENST00000370730,p.Y171S|NM_012302,p.Y171S|ENST00000271029,p.Y171S|ENST00000370721,p.Y175S|NM_001297706,p.Y171S|ENST00000370728,p.Y171S|ENST00000370723,p.Y171S|uc001div.3,p.Y171S|uc009wcd.3,p.Y171S|ENST00000370727,p.Y171S|ENST00000370725,p.Y171S|NM_001297704,p.Y171S|ENST00000319517,p.Y171S	protein_coding, processed_transcript	uc009wcd.3	nonsynonymous SNV	exon5	c.A512C	p.Y171S	WCKDPLQAADKIYFMPWTPYRTDTL	WCKDPLQAADKISFMPWTPYRTDTL	6.0	10.0	-	-	3775_1:82408767-82408767 A>C_WCKDPLQAADKISFMPWTPYRTDTL
5:14601184-14601184 A>G	0.0	3775	CERVICAL	-	-	-	-	FAM105A	NM_019018,p.I59V|ENST00000274217,p.I59V|uc003jfj.3,p.I59V	protein_coding, processed_transcript	uc003jfj.3	nonsynonymous SNV	exon2	c.A175G	p.I59V	FVMLAVSFLVAAICYFRRLHLYSGH	FVMLAVSFLVAAVCYFRRLHLYSGH	8.0	1.0	unscreened	-	3775_5:14601184-14601184 A>G_FVMLAVSFLVAAVCYFRRLHLYSGH
22:24040489-24040489 A>T	0.0	3775	CERVICAL	-	-	-	-	RGL4	uc002zxp.1,p.T315S|uc002zxo.3,p.T451S|ENST00000423392,p.T451S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002zxp.1	nonsynonymous SNV	exon9	c.A943T	p.T315S	RLRPLEKFVTYFTRMEQLSDKERWG	RLRPLEKFVTYFSRMEQLSDKERWG	6.0	4.0	unscreened	-	3775_22:24040489-24040489 A>T_RLRPLEKFVTYFSRMEQLSDKERWG
8:144990484-144990484 C>T	1.0	3775	CERVICAL	-	-	-	-	PLEC	uc003zae.1,p.R4470H|uc003zaf.1,p.R4639H|ENST00000322810,p.R4639H|NM_201378,p.R4488H|uc003zaj.2,p.R4529H|ENST00000398774,p.R4470H|NM_201381,p.R4470H|ENST00000436759,p.R4529H|ENST00000354958,p.R4480H|NM_201384,p.R4502H|NM_201382,p.R4502H|uc003zah.2,p.R4488H|NM_201380,p.R4639H|uc003zad.2,p.R4502H|ENST00000356346,p.R4488H|NM_201379,p.R4480H|ENST00000527096,p.R4525H|NM_201383,p.R4506H|uc003zac.1,p.R4506H|ENST00000345136,p.R4502H|uc003zag.1,p.R4480H|ENST00000354589,p.R4502H|ENST00000357649,p.R4506H|NM_000445,p.R4529H|uc003zab.1,p.R4502H	retained_intron, protein_coding	uc003zaj.2	nonsynonymous SNV	exon33	c.G13586A	p.R4529H	RTGSRTGSRAGSRRGSFDATGSGFS	RTGSRTGSRAGSHRGSFDATGSGFS	9.0	10.0	-	-	3775_8:144990484-144990484 C>T_RTGSRTGSRAGSHRGSFDATGSGFS
22:24040489-24040489 A>T	0.0	3775	CERVICAL	-	-	-	-	RGL4	uc002zxq.3,p.T315S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002zxq.3	nonsynonymous SNV	exon9	c.A943T	p.T315S	RLRPLEKFVTYFTRMEQLSDKERLH	RLRPLEKFVTYFSRMEQLSDKERLH	6.0	4.0	unscreened	-	3775_22:24040489-24040489 A>T_RLRPLEKFVTYFSRMEQLSDKERLH
3:56675499-56675499 C>T	0.0	3775	CERVICAL	-	-	-	-	FAM208A	uc003did.4,p.V833I|NM_001112736,p.V833I|NM_015224,p.V437I|uc003dic.4,p.V437I|uc003die.4,p.V833I|ENST00000355628,p.V833I|ENST00000431842,p.V437I|ENST00000493960,p.V833I	retained_intron, protein_coding, processed_transcript	uc003die.4	nonsynonymous SNV	exon15	c.G2497A	p.V833I	DKKDYEQPTCAKVENAQFKGTQSLL	DKKDYEQPTCAKIENAQFKGTQSLL	9.0	1.0	unscreened	-	3775_3:56675499-56675499 C>T_DKKDYEQPTCAKIENAQFKGTQSLL
22:24040489-24040489 A>T	0.0	3775	CERVICAL	-	-	-	-	RGL4	ENST00000401461,p.T315S|uc002zxn.3,p.T451S|ENST00000290691,p.T451S|NM_153615,p.T451S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002zxn.3	nonsynonymous SNV	exon10	c.A1351T	p.T451S	RLRPLEKFVTYFTRMEQLSDKESYK	RLRPLEKFVTYFSRMEQLSDKESYK	6.0	4.0	unscreened	-	3775_22:24040489-24040489 A>T_RLRPLEKFVTYFSRMEQLSDKESYK
5:37721253-37721253 ->A	0.0	3775	CERVICAL	-	-	-	-	WDR70	uc003jkv.3,p.Q485fs|ENST00000265107,p.Q485fs|NM_018034,p.Q485fs	retained_intron, protein_coding, processed_transcript	uc003jkv.3	frameshift insertion	exon14	c.1454dupA	p.Q485fs	SVVRCLWHPKLNQIMVGTGNGLAKV	SVVRCLWHPKLNQDHGWNWKWIG	8.0	7.0	unscreened	-	3775_5:37721253-37721253 ->A_SVVRCLWHPKLNQDHGWNWKWIG
10:96342781-96342781 G>C	1.0	3775	CERVICAL	-	-	-	-	HELLS	NM_001289069,p.E399Q|uc001kju.3,p.E70Q|NM_001289068,p.E415Q|ENST00000348459,p.E431Q|NM_001289075,p.E25Q|uc001kjt.3,p.E431Q|uc009xun.3,p.E307Q|NM_001289074,p.E70Q|uc001kjs.3,p.E415Q|NM_001289073,p.E293Q|uc009xuq.3,p.E293Q|NM_018063,p.E431Q|NM_001289071,p.E307Q	retained_intron, protein_coding, processed_transcript	uc009xuq.3	nonsynonymous SNV	exon11	c.G877C	p.E293Q	SLSETAEDIIAKEREQNVLHMLHQI	SLSETAEDIIAKQREQNVLHMLHQI	9.0	7.0	-	-	3775_10:96342781-96342781 G>C_SLSETAEDIIAKQREQNVLHMLHQI
17:29226395-29226395 G>A	1.0	3775	CERVICAL	-	-	-	-	TEFM	ENST00000581216,p.S292F|uc002hfu.2,p.S292F|NM_024683,p.S292F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002hfu.2	nonsynonymous SNV	exon4	c.C875T	p.S292F	AVGKHFELMIGDSRTSGKELVKQFL	AVGKHFELMIGDFRTSGKELVKQFL	7.0	9.0	-	-	3775_17:29226395-29226395 G>A_AVGKHFELMIGDFRTSGKELVKQFL
4:108868543-108868543 G>A	1.0	3775	CERVICAL	-	-	-	-	CYP2U1	uc003hyp.3,p.E380K|ENST00000508453,p.E171K|ENST00000332884,p.E380K|NM_183075,p.E380K|uc011cfi.2,p.E171K	protein_coding, processed_transcript	uc011cfi.2	nonsynonymous SNV	exon5	c.G511A	p.E171K	MSLNPDVQEKVHEEIERVIGANRAP	MSLNPDVQEKVHKEIERVIGANRAP	6.0	8.0	-	-	3775_4:108868543-108868543 G>A_MSLNPDVQEKVHKEIERVIGANRAP
4:8226940-8226940 A>C	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	NM_018986,p.K428Q|uc003gkv.4,p.K428Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkv.4	nonsynonymous SNV	exon11	c.A1282C	p.K428Q	SVEEAETEQPQEKEIPPPCLSPEPQ	SVEEAETEQPQEQEIPPPCLSPEPQ	7.0	2.0	unscreened	-	3775_4:8226940-8226940 A>C_SVEEAETEQPQEQEIPPPCLSPEPQ
17:48431776-48431776 G>A	1.0	3775	CERVICAL	-	-	-	-	XYLT2	uc002iqo.3,p.M212I|ENST00000507602,p.M212I|NM_022167,p.M212I|ENST00000017003,p.M212I|ENST00000376550,p.M212I	retained_intron, protein_coding, nonsense_mediated_decay	uc002iqo.3	nonsynonymous SNV	exon3	c.G636A	p.M212I	KAVPRHCQLTGKMSPGIQWDESQAQ	KAVPRHCQLTGKISPGIQWDESQAQ	6.0	10.0	-	-	3775_17:48431776-48431776 G>A_KAVPRHCQLTGKISPGIQWDESQAQ
4:8230152-8230152 G>A	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	ENST00000539824,p.A835T|uc003gkv.4,p.A911T|NM_018986,p.A911T|ENST00000245105,p.A911T|uc003gkw.4,p.A835T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon12	c.G2503A	p.A835T	QRNQAVGLANFGALCLHAGASRLAQ	QRNQAVGLANFGTLCLHAGASRLAQ	7.0	3.0	unscreened	-	3775_4:8230152-8230152 G>A_QRNQAVGLANFGTLCLHAGASRLAQ
1:24113777-24113777 G>C	1.0	3775	CERVICAL	-	-	-	-	PITHD1	ENST00000374524,p.E70Q|NM_020362,p.E183Q|uc001bhq.3,p.E183Q|ENST00000246151,p.E183Q|uc010oeb.2,p.E90Q	protein_coding	uc010oeb.2	nonsynonymous SNV	exon5	c.G268C	p.E90Q	GLRGEWTELRRHEVTICNYEASANP	GLRGEWTELRRHQVTICNYEASANP	9.0	7.0	-	-	3775_1:24113777-24113777 G>C_GLRGEWTELRRHQVTICNYEASANP
4:8229901-8229901 A>C	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	uc003gkw.4,p.H751P|ENST00000539824,p.H751P|ENST00000245105,p.H827P|NM_018986,p.H827P|uc003gkv.4,p.H827P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon12	c.A2252C	p.H751P	ASAIAGVRAIVDHLVALAWLHVLHG	ASAIAGVRAIVDPLVALAWLHVLHG	7.0	5.0	unscreened	-	3775_4:8229901-8229901 A>C_ASAIAGVRAIVDPLVALAWLHVLHG
12:72092728-72092728 G>T	1.0	3775	CERVICAL	-	-	-	-	TMEM19	NM_018279,p.G229V|ENST00000546795,p.G73V|ENST00000546677,p.G128V|ENST00000549735,p.G229V|uc001sws.3,p.G229V|ENST00000266673,p.G229V|uc001swr.2,p.G229V	protein_coding, nonsense_mediated_decay	uc001sws.3	nonsynonymous SNV	exon5	c.G686T	p.G229V	GVTVVGLVSSLLGGTFVGIAYFLTQ	GVTVVGLVSSLLVGTFVGIAYFLTQ	10.0	8.0	-	-	3775_12:72092728-72092728 G>T_GVTVVGLVSSLLVGTFVGIAYFLTQ
2:133426075-133426075 C>G	0.0	3775	CERVICAL	-	-	-	-	LYPD1	uc002ttn.3,p.E30Q|uc002ttm.4,p.E46Q|NM_144586,p.E30Q|ENST00000397463,p.E30Q	protein_coding, nonsense_mediated_decay	uc002ttn.3	nonsynonymous SNV	exon2	c.G88C	p.E30Q	GFALQIQCYQCEEFQLNNDCSSPEF	GFALQIQCYQCEQFQLNNDCSSPEF	5.0	9.0	-	-	3775_2:133426075-133426075 C>G_GFALQIQCYQCEQFQLNNDCSSPEF
X:134166665-134166665 C>G	1.0	3775	CERVICAL	-	-	-	-	FAM127A	ENST00000257013,p.I84M|uc004eyd.3,p.I84M|NM_001078171,p.I84M	protein_coding, processed_transcript	uc004eyd.3	nonsynonymous SNV	exon1	c.C252G	p.I84M	LTGPALQWVIPYIKKESPLLNDYRG	LTGPALQWVIPYMKKESPLLNDYRG	9.0	10.0	-	-	3775_X:134166665-134166665 C>G_LTGPALQWVIPYMKKESPLLNDYRG
7:151859767-151859767 G>-	0.0	3775	CERVICAL	-	-	-	1	KMT2C	uc003wky.3,p.P1141fs|NM_170606,p.P3632fs|uc003wla.3,p.P3632fs|uc003wkz.3,p.P2693fs|ENST00000355193,p.P3632fs|ENST00000424877,p.P218fs|ENST00000262189,p.P3632fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003wla.3	frameshift deletion	exon43	c.10895delC	p.P3632fs	KAPSTPHSDITAPPTPGISETTSTP	KAPSTPHSDITAHRLQASQKLPLLLQ	8.0	6.0	unscreened	-	3775_7:151859767-151859767 G>-_KAPSTPHSDITAHRLQASQKLPLLLQ
17:4871017-4871017 C>T	1.0	3775	CERVICAL	-	-	-	-	SPAG7	uc002gae.3,p.R28Q|ENST00000575142,p.R17Q|ENST00000206020,p.R28Q|NM_004890,p.R28Q|uc002gaf.3,p.R28Q|ENST00000575784,p.R17Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gaf.3	nonsynonymous SNV	exon1	c.G83A	p.R28Q	PSLGDQETRRKAREQAARLKKLQEQ	PSLGDQETRRKAQEQAARLKKLQEQ	9.0	10.0	-	-	3775_17:4871017-4871017 C>T_PSLGDQETRRKAQEQAARLKKLQEQ
3:57407361-57407361 T>C	0.0	3775	CERVICAL	-	-	-	-	DNAH12	ENST00000495027,p.T1816A|uc003dit.2,p.T1797A|ENST00000351747,p.T1797A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003dit.2	nonsynonymous SNV	exon36	c.A5389G	p.T1797A	GSCDTDGRRVFDTFIRLIILGKDDE	GSCDTDGRRVFDAFIRLIILGKDDE	1.0	2.0	unscreened	-	3775_3:57407361-57407361 T>C_GSCDTDGRRVFDAFIRLIILGKDDE
3:140275437-140275437 C>T	0.0	3775	CERVICAL	-	-	-	-	CLSTN2	ENST00000458420,p.S586F|uc003etn.3,p.S586F|NM_022131,p.S586F|uc003etm.2,p.S586F	retained_intron, protein_coding	uc003etn.3	nonsynonymous SNV	exon11	c.C1757T	p.S586F	DIGNINRALQKVSYINSRQFPTAGV	DIGNINRALQKVFYINSRQFPTAGV	5.0	4.0	-	-	3775_3:140275437-140275437 C>T_DIGNINRALQKVFYINSRQFPTAGV
9:130167784-130167784 C>G	0.0	3775	CERVICAL	-	-	-	-	SLC2A8	NM_001271712,p.I249M|ENST00000373371,p.I412M|uc031tfc.1,p.I249M|ENST00000451404,p.I249M|uc004bqu.4,p.I412M|NM_014580,p.I412M|ENST00000373352,p.I149M|uc031tfd.1,p.I149M|ENST00000430147,p.I251M	protein_coding, processed_transcript	uc031tfd.1	nonsynonymous SNV	exon6	c.C447G	p.I149M	IFPLHVKGVATGICVLTNWLMAFLV	IFPLHVKGVATGMCVLTNWLMAFLV	7.0	7.0	-	-	3775_9:130167784-130167784 C>G_IFPLHVKGVATGMCVLTNWLMAFLV
7:99797913-99797913 G>C	0.0	3775	CERVICAL	-	-	-	-	STAG3	uc003utx.1,p.E578Q|uc010lgs.1,p.E366Q|ENST00000394018,p.E520Q|NM_001282718,p.E520Q|ENST00000426455,p.E578Q|NM_001282716,p.E578Q|uc011kjk.1,p.E520Q|NM_012447,p.E578Q|NM_001282717,p.E578Q|ENST00000317296,p.E578Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kjk.1	nonsynonymous SNV	exon15	c.G1558C	p.E520Q	RKTQADDRVKLTEHLIPLLPQLLAK	RKTQADDRVKLTQHLIPLLPQLLAK	6.0	10.0	-	-	3775_7:99797913-99797913 G>C_RKTQADDRVKLTQHLIPLLPQLLAK
17:27208849-27208849 C>G	1.0	3775	CERVICAL	-	-	-	-	FLOT2	ENST00000585169,p.Q299H|ENST00000394908,p.Q299H|uc002hdc.3,p.Q299H|ENST00000394906,p.Q354H|NM_004475,p.Q299H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002hdc.3	nonsynonymous SNV	exon8	c.G897C	p.Q299H	RRPAEAEAHRIQQIAEGEKVKQVLL	RRPAEAEAHRIQHIAEGEKVKQVLL	10.0	8.0	-	-	3775_17:27208849-27208849 C>G_RRPAEAEAHRIQHIAEGEKVKQVLL
10:102822812-102822812 C>T	0.0	3775	CERVICAL	-	-	-	-	KAZALD1	NM_030929,p.R155W|uc001ksr.3,p.R155W|uc001kst.1,p.R155W|ENST00000370200,p.R155W	protein_coding, processed_transcript	uc001kst.1	nonsynonymous SNV	exon1	c.C463T	p.R155W	SQICRLQEAARARPDANLTVAHPGP	SQICRLQEAARAWPDANLTVAHPGP	5.0	3.0	unscreened	-	3775_10:102822812-102822812 C>T_SQICRLQEAARAWPDANLTVAHPGP
17:7127020-7127020 G>A	1.0	3775	CERVICAL	-	-	-	-	ACADVL	ENST00000543245,p.E437K|uc002gev.4,p.E414K|ENST00000350303,p.E392K|uc002gex.4,p.E338K|NM_001033859,p.E392K|uc002gew.4,p.E392K|NM_001270447,p.E437K|uc010vtp.3,p.E437K|ENST00000356839,p.E414K|NM_001270448,p.E338K|NM_000018,p.E414K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vtp.3	nonsynonymous SNV	exon13	c.G1309A	p.E437K	ANMDQGATDFQIEAAISKIFGSEAA	ANMDQGATDFQIKAAISKIFGSEAA	10.0	10.0	-	-	3775_17:7127020-7127020 G>A_ANMDQGATDFQIKAAISKIFGSEAA
7:73461078-73461078 C>G	0.0	3775	CERVICAL	-	-	-	2	ELN	uc003tzo.3,p.I208M|ENST00000380553,p.I105M|NM_001278913,p.I186M|uc003tzq.3,p.I105M|uc003tzz.3,p.I186M|ENST00000320492,p.I186M|ENST00000438880,p.I83M|ENST00000380584,p.I208M|NM_001278916,p.I208M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003tzz.3	nonsynonymous SNV	exon10	c.C558G	p.I186M	GGPQPGVPLGYPIKAPKLPGYGPGG	GGPQPGVPLGYPMKAPKLPGYGPGG	10.0	9.0	-	-	3775_7:73461078-73461078 C>G_GGPQPGVPLGYPMKAPKLPGYGPGG
15:40512844-40512844 G>A	0.0	3775	CERVICAL	-	-	-	1	BUB1B	NM_001211,p.G1013R|ENST00000287598,p.G1013R|ENST00000412359,p.G1027R|uc001zkx.4,p.G1013R	 nonsense_mediated_decay, protein_coding, processed_transcript,retained_intron	uc001zkx.4	nonsynonymous SNV	exon23	c.G3037A	p.G1013R	LNANDEATVSVLGELAAEMNGVFDT	LNANDEATVSVLRELAAEMNGVFDT	6.0	2.0	unscreened	-	3775_15:40512844-40512844 G>A_LNANDEATVSVLRELAAEMNGVFDT
3:14209829-14209829 C>T	0.0	3775	CERVICAL	-	-	-	1	XPC	NM_004628,p.R155Q|ENST00000285021,p.R155Q|uc011ave.2,p.R155Q|ENST00000511155,p.R149Q	retained_intron, protein_coding, nonsense_mediated_decay	uc011ave.2	nonsynonymous SNV	exon4	c.G464A	p.R155Q	VLGDVRESTAFSRSLLPVKPVEIEI	VLGDVRESTAFSQSLLPVKPVEIEI	8.0	3.0	-	-	3775_3:14209829-14209829 C>T_VLGDVRESTAFSQSLLPVKPVEIEI
15:62221898-62221898 T>A	0.0	3775	CERVICAL	-	-	ID=COSM1727199,COSM1727200;OCCURENCE=1(liver)	-	VPS13C	ENST00000395898,p.I1987L|uc002agz.3,p.I2030L|ENST00000261517,p.I2030L|NM_001018088,p.I2030L|ENST00000395896,p.I2030L|uc002aha.3,p.I1987L|NM_017684,p.I1987L|ENST00000249837,p.I1987L|NM_020821,p.I2030L|uc002ahb.2,p.I2030L|NM_018080,p.I1987L|uc002ahc.2,p.I1987L	retained_intron, protein_coding, processed_transcript	uc002ahc.2	nonsynonymous SNV	exon49	c.A5959T	p.I1987L	KNDQDNNSSMIDISYKQDKNGSQID	KNDQDNNSSMIDLSYKQDKNGSQID	9.0	3.0	-	-	3775_15:62221898-62221898 T>A_KNDQDNNSSMIDLSYKQDKNGSQID
4:8228727-8228727 A>G	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	uc003gkw.4,p.S360G|ENST00000245105,p.S436G|ENST00000539824,p.S360G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon12	c.A1078G	p.S360G	QPQEKEIPPPCLSLEPQETLQKVKN	QPQEKEIPPPCLGLEPQETLQKVKN	7.0	5.0	unscreened	-	3775_4:8228727-8228727 A>G_QPQEKEIPPPCLGLEPQETLQKVKN
6:35936665-35936665 T>C	0.0	3775	CERVICAL	-	-	-	-	SLC26A8	NM_138718,p.T347A|uc003oln.3,p.T452A|NM_052961,p.T452A|uc003olm.3,p.T452A|ENST00000355574,p.T452A|uc003olk.3,p.T34A|ENST00000490799,p.T452A|ENST00000394602,p.T347A|NM_001193476,p.T452A|uc003oll.3,p.T347A	retained_intron, protein_coding, nonsense_mediated_decay	uc003oln.3	nonsynonymous SNV	exon11	c.A1354G	p.T452A	LLLMVKMGHFFYTLPNAVLAGIILS	LLLMVKMGHFFYALPNAVLAGIILS	1.0	2.0	unscreened	-	3775_6:35936665-35936665 T>C_LLLMVKMGHFFYALPNAVLAGIILS
3:45744936-45744936 C>G	0.0	3775	CERVICAL	-	-	-	-	SACM1L	ENST00000441228,p.I13M|NM_014016,p.I13M|ENST00000389061,p.I13M|uc003cos.2,p.I13M|ENST00000445499,p.I13M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003cos.2	nonsynonymous SNV	exon2	c.C39G	p.I13M	MATAAYEQLKLHITPEKFYVEACDD	MATAAYEQLKLHMTPEKFYVEACDD	9.0	4.0	unscreened	-	3775_3:45744936-45744936 C>G_MATAAYEQLKLHMTPEKFYVEACDD
10:696201-696201 G>A	0.0	3775	CERVICAL	-	-	-	-	PRR26	ENST00000381489,p.E51K|uc001ifr.3,p.E51K	protein_coding	uc001ifr.3	nonsynonymous SNV	exon1	c.G151A	p.E51K	FPVPFPSGDSWPEVTQHWMRFQGQG	FPVPFPSGDSWPKVTQHWMRFQGQG	1.0	1.0	unscreened	-	3775_10:696201-696201 G>A_FPVPFPSGDSWPKVTQHWMRFQGQG
20:49576739-49576739 G>A	0.0	3775	CERVICAL	-	-	-	-	MOCS3	ENST00000244051,p.D454N|uc002xvy.2,p.D454N|NM_014484,p.D454N	protein_coding	uc002xvy.2	nonsynonymous SNV	exon1	c.G1360A	p.D454N	VVGGLMAWAAKIDGTFPQY	VVGGLMAWAAKINGTFPQY	5.0	5.0	-	-	3775_20:49576739-49576739 G>A_VVGGLMAWAAKINGTFPQY
18:67816196-67816196 C>A	0.0	3775	CERVICAL	-	-	-	-	RTTN	ENST00000437017,p.M750I|ENST00000454359,p.M750I|ENST00000583043,p.M540I|ENST00000255674,p.M750I|NM_173630,p.M750I|uc002lkp.2,p.M750I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lkp.2	nonsynonymous SNV	exon17	c.G2250T	p.M750I	LLLSKASSDTEEMLPCTTRLKSMLR	LLLSKASSDTEEILPCTTRLKSMLR	6.0	2.0	unscreened	-	3775_18:67816196-67816196 C>A_LLLSKASSDTEEILPCTTRLKSMLR
7:73461078-73461078 C>G	0.0	3775	CERVICAL	-	-	-	2	ELN	uc003tzn.3,p.I208M|NM_001278915,p.I208M|NM_001278914,p.I203M|ENST00000429192,p.I213M|ENST00000357036,p.I213M|NM_001278939,p.I208M|NM_001278912,p.I208M|uc003tzv.3,p.I198M|uc003tzx.3,p.I198M|ENST00000252034,p.I208M|NM_001278917,p.I198M|ENST00000438906,p.I186M|NM_001278918,p.I164M|ENST00000380576,p.I208M|uc003tzu.3,p.I213M|ENST00000458204,p.I198M|ENST00000358929,p.I208M|uc003tzt.3,p.I213M|ENST00000414324,p.I203M|ENST00000380562,p.I208M|ENST00000320399,p.I208M|NM_000501,p.I208M|ENST00000428787,p.I126M|NM_001081752,p.I198M|uc003tzy.3,p.I203M|uc003tzw.3,p.I208M|uc003tzs.3,p.I208M|NM_001081753,p.I213M|uc011kff.2,p.I208M|ENST00000417091,p.I174M|NM_001081754,p.I213M|ENST00000445912,p.I208M|ENST00000380575,p.I198M|NM_001081755,p.I208M|uc003tzp.3,p.I164M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kff.2	nonsynonymous SNV	exon12	c.C624G	p.I208M	GGPQPGVPLGYPIKAPKLPGGYGLP	GGPQPGVPLGYPMKAPKLPGGYGLP	10.0	9.0	-	-	3775_7:73461078-73461078 C>G_GGPQPGVPLGYPMKAPKLPGGYGLP
10:696125-696125 C>-	0.0	3775	CERVICAL	-	-	-	-	PRR26	uc001ifr.3,p.C25fs|ENST00000381489,p.C25fs	protein_coding	uc001ifr.3	frameshift deletion	exon1	c.75delC	p.C25fs	ERRPQQSQHWRSCGVGGAGEATRGG	ERRPQQSQHWRSWGWVVLGRPHGEGCSLFPSPQETAGPR	1.0	5.0	unscreened	-	3775_10:696125-696125 C>-_ERRPQQSQHWRSWGWVVLGRPHGEGCSLFPSPQETAGPR
1:113134160-113134160 C>G	0.0	3775	CERVICAL	-	-	-	-	ST7L	NM_138727,p.E213Q|NM_138729,p.E230Q|uc010owj.1,p.E213Q|ENST00000369669,p.E47Q|ENST00000360743,p.E230Q|ENST00000369666,p.E213Q|ENST00000543570,p.E213Q|NM_138728,p.E230Q|uc001ecf.3,p.E213Q|uc001ecd.3,p.E230Q|NM_017744,p.E230Q|ENST00000369664,p.E174Q|uc010owi.2,p.E165Q|uc001ece.3,p.E230Q|ENST00000538187,p.E174Q|ENST00000369668,p.E230Q|uc001eci.3,p.E230Q|uc001ech.3,p.E213Q|ENST00000490067,p.E213Q|uc001ecc.3,p.E47Q|ENST00000490715,p.E230Q|ENST00000343210,p.E230Q|ENST00000358039,p.E230Q|ENST00000361846,p.E230Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc010owj.1	nonsynonymous SNV	exon6	c.G637C	p.E213Q	PPARIKAAYQALELNNDCATAYVLL	PPARIKAAYQALQLNNDCATAYVLL	8.0	6.0	-	-	3775_1:113134160-113134160 C>G_PPARIKAAYQALQLNNDCATAYVLL
1:247264293-247264293 A>G	0.0	3775	CERVICAL	-	-	-	-	ZNF669	ENST00000343381,p.Y260H|uc001ice.2,p.Y260H|NM_024804,p.Y260H|ENST00000448299,p.Y174H|uc001icf.2,p.Y174H|NM_001142572,p.Y174H	protein_coding	uc001icf.2	nonsynonymous SNV	exon4	c.T520C	p.Y174H	PAYKCTICGKAFYFLNSVERHQRTH	PAYKCTICGKAFHFLNSVERHQRTH	5.0	5.0	unscreened	-	3775_1:247264293-247264293 A>G_PAYKCTICGKAFHFLNSVERHQRTH
4:8242566-8242566 T>C	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	uc003gkw.4,p.F1223L|NM_018986,p.F1299L|ENST00000539824,p.F1223L|uc003gkv.4,p.F1299L|ENST00000245105,p.F1299L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon18	c.T3667C	p.F1223L	YHNFLLDREKSLFFYQKARTFATEL	YHNFLLDREKSLLFYQKARTFATEL	7.0	3.0	unscreened	-	3775_4:8242566-8242566 T>C_YHNFLLDREKSLLFYQKARTFATEL
10:135186780-135186780 G>A	1.0	3775	CERVICAL	-	-	-	-	ECHS1	uc001lmu.3,p.R20C|ENST00000368547,p.R20C|NM_004092,p.R20C	protein_coding	uc001lmu.3	nonsynonymous SNV	exon1	c.C58T	p.R20C	LSCVRGPLRPPVRCPAWRPFASGAN	LSCVRGPLRPPVCCPAWRPFASGAN	10.0	8.0	-	-	3775_10:135186780-135186780 G>A_LSCVRGPLRPPVCCPAWRPFASGAN
2:47380118-47380118 C>T	0.0	3775	CERVICAL	-	-	-	-	C2orf61	ENST00000445927,p.G40E|NM_173649,p.G40E|ENST00000294947,p.G40E|NM_001163561,p.G40E|uc010yog.2,p.G40E|uc002rvs.2,p.G40E	protein_coding	uc010yog.2	nonsynonymous SNV	exon2	c.G119A	p.G40E	KPAQKTSSFEREGWWRIALTDTPIP	KPAQKTSSFEREEWWRIALTDTPIP	1.0	1.0	unscreened	-	3775_2:47380118-47380118 C>T_KPAQKTSSFEREEWWRIALTDTPIP
15:40313109-40313109 A>G	0.0	3775	CERVICAL	-	-	-	-	EIF2AK4	ENST00000263791,p.S1395G|ENST00000382727,p.S1367G|uc001zkn.1,p.S495G|uc001zko.1,p.S276G|NM_001013703,p.S1395G|uc001zkm.1,p.S1395G|uc010bbj.1,p.S1096G	retained_intron, protein_coding, processed_transcript, TEC	uc010bbj.1	nonsynonymous SNV	exon25	c.A3286G	p.S1096G	AAVLNMEESVTISSCDLLVVSVGQM	AAVLNMEESVTIGSCDLLVVSVGQM	7.0	2.0	unscreened	-	3775_15:40313109-40313109 A>G_AAVLNMEESVTIGSCDLLVVSVGQM
20:20621483-20621483 G>C	0.0	3775	CERVICAL	-	-	-	-	RALGAPA2	ENST00000438161,p.Q138E|uc002wrz.3,p.Q138E|ENST00000202677,p.Q138E|NM_020343,p.Q138E	protein_coding, processed_transcript	uc002wrz.3	nonsynonymous SNV	exon6	c.C412G	p.Q138E	RCEGIRLFLLWLQALQTNCAEEQVL	RCEGIRLFLLWLEALQTNCAEEQVL	7.0	5.0	-	-	3775_20:20621483-20621483 G>C_RCEGIRLFLLWLEALQTNCAEEQVL
4:3441325-3441325 C>G	1.0	3775	CERVICAL	-	-	-	-	RGS12	uc003ggw.3,p.P1420A|uc010icv.3,p.P619A|uc003gha.3,p.P762A|ENST00000338806,p.P772A|NM_198227,p.P772A|ENST00000344733,p.P1420A|NM_198229,p.P1420A|uc003ggz.3,p.P772A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010icv.3	nonsynonymous SNV	exon14	c.C1855G	p.P619A	AGPGRSQASGGPPTSDLPGLGPVPG	AGPGRSQASGGPATSDLPGLGPVPG	9.0	7.0	-	-	3775_4:3441325-3441325 C>G_AGPGRSQASGGPATSDLPGLGPVPG
11:77907454-77907454 G>C	0.0	3775	CERVICAL	-	-	-	-	USP35	ENST00000529308,p.E55Q|NM_020798,p.E55Q|uc021qny.1,p.E55Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qny.1	nonsynonymous SNV	exon2	c.G163C	p.E55Q	ALGARLYVGGAEELPRRVGCQLLHV	ALGARLYVGGAEQLPRRVGCQLLHV	6.0	9.0	-	-	3775_11:77907454-77907454 G>C_ALGARLYVGGAEQLPRRVGCQLLHV
4:8229957-8229957 G>A	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	ENST00000245105,p.D846N|NM_018986,p.D846N|uc003gkw.4,p.D770N|ENST00000539824,p.D770N|uc003gkv.4,p.D846N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon12	c.G2308A	p.D770N	LHVLHGQSPVALDILQSVRDAVVAS	LHVLHGQSPVALNILQSVRDAVVAS	7.0	6.0	unscreened	-	3775_4:8229957-8229957 G>A_LHVLHGQSPVALNILQSVRDAVVAS
1:204091096-204091096 A>G	0.0	3775	CERVICAL	-	-	-	-	SOX13	uc010pqq.2,p.T149A|uc001ham.3,p.T282A|uc010pqp.2,p.T281A|NM_005686,p.T282A|ENST00000367204,p.T282A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010pqq.2	nonsynonymous SNV	exon5	c.A445G	p.T149A	PAPVVKRPGAMATHHPLQEPSQPLN	PAPVVKRPGAMAAHHPLQEPSQPLN	7.0	1.0	unscreened	-	3775_1:204091096-204091096 A>G_PAPVVKRPGAMAAHHPLQEPSQPLN
19:15308389-15308389 G>A	0.0	3775	CERVICAL	-	-	-	-	NOTCH3	NM_000435,p.A40V|ENST00000601011,p.A39V|uc002nao.1,p.A40V|uc002nan.3,p.A40V|ENST00000263388,p.A40V	retained_intron, protein_coding, nonsense_mediated_decay	uc002nao.1	nonsynonymous SNV	exon2	c.C119T	p.A40V	PLLLLLAGPGAAAPPCLDGSPCANG	PLLLLLAGPGAAVPPCLDGSPCANG	10.0	4.0	unscreened	-	3775_19:15308389-15308389 G>A_PLLLLLAGPGAAVPPCLDGSPCANG
10:3109845-3109845 C>T	0.0	3775	CERVICAL	-	-	-	-	PFKP	ENST00000381125,p.L20F|NM_002627,p.L20F|uc001igp.3,p.L20F	protein_coding, processed_transcript	uc001igp.3	nonsynonymous SNV	exon1	c.C58T	p.L20F	APKGSLRKFLEHLSGAGKAIGVLTS	APKGSLRKFLEHFSGAGKAIGVLTS	9.0	9.0	unscreened	-	3775_10:3109845-3109845 C>T_APKGSLRKFLEHFSGAGKAIGVLTS
4:8239269-8239269 G>A	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	uc003gkv.4,p.E1209K|NM_018986,p.E1209K|uc003gkw.4,p.E1133K|ENST00000245105,p.E1209K|ENST00000539824,p.E1133K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon17	c.G3397A	p.E1133K	RLAALQHRLGHGELAEHFYLKALSL	RLAALQHRLGHGKLAEHFYLKALSL	7.0	5.0	unscreened	-	3775_4:8239269-8239269 G>A_RLAALQHRLGHGKLAEHFYLKALSL
1:46206789-46206789 G>C	0.0	3775	CERVICAL	-	-	-	-	IPP	NM_001145349,p.H170D|NM_005897,p.H170D|uc001cos.4,p.H170D|ENST00000396478,p.H170D|uc001cou.3,p.H170D|ENST00000359942,p.H170D	protein_coding, processed_transcript	uc001cou.3	nonsynonymous SNV	exon3	c.C508G	p.H170D	SENYIHVHFLEVHSGEEFLALTKDQ	SENYIHVHFLEVDSGEEFLALTKDQ	5.0	6.0	-	-	3775_1:46206789-46206789 G>C_SENYIHVHFLEVDSGEEFLALTKDQ
5:168114030-168114030 C>T	0.0	3775	CERVICAL	0.0	-	-	-	SLIT3	uc003mab.4,p.V1090M|ENST00000332966,p.V1097M|uc010jjg.4,p.V1097M|ENST00000404867,p.V1090M|NM_003062,p.V1090M|NM_001271946,p.V1097M|ENST00000519560,p.V1090M	retained_intron, protein_coding, processed_transcript	uc010jjg.4	nonsynonymous SNV	exon30	c.G3289A	p.V1097M	CVAHKCRHGAQCVDTINGYTCTCPQ	CVAHKCRHGAQCMDTINGYTCTCPQ	8.0	1.0	unscreened	-	3775_5:168114030-168114030 C>T_CVAHKCRHGAQCMDTINGYTCTCPQ
1:247264472-247264472 C>T	0.0	3775	CERVICAL	-	-	-	-	ZNF669	ENST00000448299,p.R114H|ENST00000343381,p.R200H|uc001icf.2,p.R114H|NM_024804,p.R200H|NM_001142572,p.R114H|uc001ice.2,p.R200H	protein_coding	uc001icf.2	nonsynonymous SNV	exon4	c.G341A	p.R114H	PCECSICGKVFVRHSLLNRHILAHS	PCECSICGKVFVHHSLLNRHILAHS	5.0	4.0	unscreened	-	3775_1:247264472-247264472 C>T_PCECSICGKVFVHHSLLNRHILAHS
5:82833818-82833818 G>A	0.0	3775	CERVICAL	-	-	-	-	VCAN	uc003kii.3,p.D1666N|uc003kij.3,p.D679N|ENST00000513960,p.D679N|ENST00000343200,p.D679N|NM_004385,p.D1666N|NM_001164097,p.D679N|uc003kil.3,p.D330N|ENST00000265077,p.D1666N	retained_intron, protein_coding, processed_transcript	uc003kil.3	nonsynonymous SNV	exon1	c.G988A	p.D330N	TMVTDLSQRNTTDTLITLDTSRIIT	TMVTDLSQRNTTNTLITLDTSRIIT	10.0	6.0	-	-	3775_5:82833818-82833818 G>A_TMVTDLSQRNTTNTLITLDTSRIIT
4:8229403-8229403 T>A	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	NM_018986,p.L661Q|uc003gkw.4,p.L585Q|uc003gkv.4,p.L661Q|ENST00000539824,p.L585Q|ENST00000245105,p.L661Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon12	c.T1754A	p.L585Q	QLALRRAVGGQSLQAEARACFLLAR	QLALRRAVGGQSQQAEARACFLLAR	7.0	5.0	unscreened	-	3775_4:8229403-8229403 T>A_QLALRRAVGGQSQQAEARACFLLAR
22:21327795-21327795 C>T	0.0	3775	CERVICAL	-	-	-	-	AIFM3	ENST00000426113,p.T56I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000426113	nonsynonymous SNV	exon3	c.C167T	p.T56I	RIAWRLLSATSRTSRMARCGKWSWA	RIAWRLLSATSRISRMARCGKWSWA	5.0	2.0	unscreened	-	3775_22:21327795-21327795 C>T_RIAWRLLSATSRISRMARCGKWSWA
1:247263953-247263953 C>T	0.0	3775	CERVICAL	-	-	-	-	ZNF669	uc001icf.2,p.R287H|ENST00000343381,p.R373H|NM_024804,p.R373H|NM_001142572,p.R287H|ENST00000448299,p.R287H|uc001ice.2,p.R373H	protein_coding	uc001icf.2	nonsynonymous SNV	exon4	c.G860A	p.R287H	PYECKQCGKAFSRLSSLCNHRSTHT	PYECKQCGKAFSHLSSLCNHRSTHT	5.0	2.0	unscreened	-	3775_1:247263953-247263953 C>T_PYECKQCGKAFSHLSSLCNHRSTHT
7:150932667-150932667 C>T	1.0	3775	CERVICAL	-	-	-	-	CHPF2	NM_019015,p.S266F|ENST00000465601,p.S44F|ENST00000035307,p.S266F|uc003wjr.1,p.S266F|uc003wjq.1,p.S258F|ENST00000495645,p.S258F|NM_001284295,p.S258F	protein_coding, nonsense_mediated_decay	uc003wjr.1	nonsynonymous SNV	exon2	c.C797T	p.S266F	RPDEWLGRCLIDSLGVGCVSQHQGQ	RPDEWLGRCLIDFLGVGCVSQHQGQ	8.0	8.0	-	-	3775_7:150932667-150932667 C>T_RPDEWLGRCLIDFLGVGCVSQHQGQ
4:8229873-8229873 A>G	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	ENST00000245105,p.I818V|uc003gkw.4,p.I742V|NM_018986,p.I818V|ENST00000539824,p.I742V|uc003gkv.4,p.I818V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon12	c.A2224G	p.I742V	ITFMTQAVEASAIAGVRAIVDHLVA	ITFMTQAVEASAVAGVRAIVDHLVA	7.0	8.0	unscreened	-	3775_4:8229873-8229873 A>G_ITFMTQAVEASAVAGVRAIVDHLVA
10:3162150-3162150 G>A	0.0	3775	CERVICAL	-	-	-	-	PFKP	uc009xhu.3,p.V39I|NM_002627,p.V533I|uc001igq.3,p.V525I|ENST00000381125,p.V533I|ENST00000381075,p.V525I|NM_001242339,p.V525I|uc009xhs.1,p.V317I|uc001igp.3,p.V533I|uc009xht.3,p.V271I|uc009xhr.3,p.V495I	protein_coding, processed_transcript	uc009xhu.3	nonsynonymous SNV	exon3	c.G115A	p.V39I	AREKHEEFCVPMVMVPATVSNNVPG	AREKHEEFCVPMIMVPATVSNNVPG	9.0	3.0	unscreened	-	3775_10:3162150-3162150 G>A_AREKHEEFCVPMIMVPATVSNNVPG
22:21327765-21327765 C>T	0.0	3775	CERVICAL	-	-	-	-	AIFM3	ENST00000426113,p.A46V|uc011ahx.1,p.A92V|ENST00000335375,p.A92V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ahx.1	nonsynonymous SNV	exon3	c.C275T	p.A92V	CPPLTPTPALRIAWRLLSATSRTSR	CPPLTPTPALRIVWRLLSATSRTSR	5.0	2.0	unscreened	-	3775_22:21327765-21327765 C>T_CPPLTPTPALRIVWRLLSATSRTSR
15:89382166-89382166 G>A	0.0	3775	CERVICAL	-	-	-	-	ACAN	uc010upp.1,p.D115N|ENST00000561243,p.D115N|ENST00000558207,p.D115N|NM_013227,p.D115N|uc010upo.1,p.D115N|ENST00000439576,p.D115N|NM_001135,p.D115N|uc002bmx.3,p.D115N|ENST00000352105,p.D115N|ENST00000559004,p.D115N	retained_intron, protein_coding	uc010upp.1	nonsynonymous SNV	exon3	c.G343A	p.D115N	KVSLPNYPAIPSDATLEVQSLRSND	KVSLPNYPAIPSNATLEVQSLRSND	4.0	9.0	-	-	3775_15:89382166-89382166 G>A_KVSLPNYPAIPSNATLEVQSLRSND
1:161173318-161173318 C>T	1.0	3775	CERVICAL	-	-	-	-	NDUFS2	ENST00000392179,p.P63S|uc001fyv.3,p.P63S|ENST00000367993,p.P63S|NM_001166159,p.P63S|uc001fyw.3,p.P63S|NM_004550,p.P63S	protein_coding, processed_transcript	uc001fyw.3	nonsynonymous SNV	exon2	c.C187T	p.P63S	VMYPSKETAHWKPPPWNDVDPPKDT	VMYPSKETAHWKSPPWNDVDPPKDT	10.0	10.0	-	-	3775_1:161173318-161173318 C>T_VMYPSKETAHWKSPPWNDVDPPKDT
3:47894293-47894293 C>T	0.0	3775	CERVICAL	-	-	-	-	MAP4	uc011bbe.1,p.A846T|uc003csc.3,p.A1133T|NM_001134364,p.A1133T|ENST00000395734,p.A1133T|ENST00000335271,p.A461T|ENST00000420772,p.A826T|ENST00000441748,p.A247T	retained_intron, protein_coding, processed_transcript	uc011bbe.1	nonsynonymous SNV	exon9	c.G2536A	p.A846T	NSGSRVLGPLSRAVH	NSGSRVLGPLSRTVH	10.0	2.0	unscreened	-	3775_3:47894293-47894293 C>T_NSGSRVLGPLSRTVH
19:48305755-48305778 GAATGGGCCTGAGATTGGGCCTGG>-	0.0	3775	CERVICAL	-	-	-	-	TPRX1	ENST00000543508,p.G155fs	protein_coding	ENST00000543508	frameshift deletion	exon3	c.464_483del	p.G155fs	VQIPGPFRGPIPGPISGPFSGPNPG	VQIPGPFRGPIPVRPKPRPDPRPKPRPDPRPNLRPDPRPNLSPDPRPDPRPNLRPNLRPKPRPDPRPNPRPNLRPEPRPDPRPNLRPEPRPDPRPNPRPNLRPRPNYRPDSQPSPDPRPRQTPRPRSHLKSWPDAKPWLTSRPSPDFRPRLRPRLRLSPSSNPRPRITPSPSPLMASEPRCLRLLARHPVIPSLHRAAPTPRPLGGILSLHHDLSVPRRG	1.0	10.0	unscreened	-	3775_19:48305755-48305778 GAATGGGCCTGAGATTGGGCCTGG>-_VQIPGPFRGPIPVRPKPRPDPRPKPRPDPRPNLRPDPRPNLSPDPRPDPRPNLRPNLRPKPRPDPRPNPRPNLRPEPRPDPRPNLRPEPRPDPRPNPRPNLRPRPNYRPDSQPSPDPRPRQTPRPRSHLKSWPDAKPWLTSRPSPDFRPRLRPRLRLSPSSNPRPRITPSPSPLMASEPRCLRLLARHPVIPSLHRAAPTPRPLGGILSLHHDLSVPRRG
9:21367999-21367999 G>A	0.0	3775	CERVICAL	-	-	-	-	IFNA13	ENST00000449498,p.S4L|uc003zpa.2,p.S4L|NM_006900,p.S4L	protein_coding	uc003zpa.2	nonsynonymous SNV	exon1	c.C11T	p.S4L	MMASPFALLMALVVLS	MMALPFALLMALVVLS	1.0	5.0	unscreened	-	3775_9:21367999-21367999 G>A_MMALPFALLMALVVLS
8:101076199-101076199 G>C	0.0	3775	CERVICAL	-	-	-	-	RGS22	ENST00000523287,p.S85C|NM_001286693,p.S85C|uc003yjc.1,p.S254C|ENST00000523437,p.S254C|uc003yjb.1,p.S266C|ENST00000360863,p.S266C|NM_001286692,p.S254C|uc003yja.1,p.S85C|NM_015668,p.S266C|ENST00000519725,p.S266C|uc022azh.1,p.S170C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022azh.1	nonsynonymous SNV	exon5	c.C509G	p.S170C	TKKDPSKTNKLISEFEEEEGEEEEV	TKKDPSKTNKLICEFEEEEGEEEEV	3.0	9.0	-	-	3775_8:101076199-101076199 G>C_TKKDPSKTNKLICEFEEEEGEEEEV
16:67315951-67315951 G>A	1.0	3775	CERVICAL	-	-	-	-	PLEKHG4	NM_015432,p.A349T|uc010ceg.3,p.A268T|uc002eso.4,p.A349T|NM_001129727,p.A349T|NM_001129728,p.A349T|uc010cef.3,p.A349T|uc002ess.4,p.A349T|ENST00000450733,p.A268T|uc002esq.4,p.A349T|ENST00000427155,p.A349T|ENST00000379344,p.A349T|NM_001129729,p.A349T|ENST00000360461,p.A349T|NM_001129731,p.A268T|uc002esp.4,p.A156T	retained_intron, protein_coding, nonsense_mediated_decay	uc010ceg.3	nonsynonymous SNV	exon6	c.G802A	p.A268T	LEALLQNCQAACALLQGAIESVKAV	LEALLQNCQAACTLLQGAIESVKAV	8.0	9.0	-	-	3775_16:67315951-67315951 G>A_LEALLQNCQAACTLLQGAIESVKAV
17:48148792-48148792 G>C	1.0	3775	CERVICAL	-	-	-	-	ITGA3	ENST00000320031,p.G290A|uc010dbm.3,p.G290A|ENST00000007722,p.G290A|NM_002204,p.G290A|ENST00000544892,p.G65A|NM_005501,p.G290A|uc010dbl.3,p.G290A	retained_intron, protein_coding, nonsense_mediated_decay	uc010dbm.3	nonsynonymous SNV	exon6	c.G869C	p.G290A	MGAVFLLSQEAGGDLRRRQVLEGSQ	MGAVFLLSQEAGADLRRRQVLEGSQ	8.0	6.0	-	-	3775_17:48148792-48148792 G>C_MGAVFLLSQEAGADLRRRQVLEGSQ
22:21327795-21327795 C>T	0.0	3775	CERVICAL	-	-	-	-	AIFM3	ENST00000335375,p.T102I|uc011ahx.1,p.T102I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ahx.1	nonsynonymous SNV	exon3	c.C305T	p.T102I	RIAWRLLSATSRTSRMASVLSRGRV	RIAWRLLSATSRISRMASVLSRGRV	5.0	2.0	unscreened	-	3775_22:21327795-21327795 C>T_RIAWRLLSATSRISRMASVLSRGRV
1:144865834-144865834 C>G	0.0	3775	CERVICAL	-	-	-	1	PDE4DIP	uc001elx.4,p.A1810P|uc001ema.3,p.A103P|ENST00000369359,p.A2052P|NM_014644,p.A1916P|ENST00000313382,p.A1810P|uc001elv.4,p.A923P|ENST00000369356,p.A1916P|NM_001198832,p.A1810P|ENST00000369354,p.A1916P|uc001elw.4,p.A1916P|ENST00000530740,p.A2001P|NM_001198834,p.A1916P|uc021ouh.1,p.A1916P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ouh.1	nonsynonymous SNV	exon35	c.G5746C	p.A1916P	NRVLREDNRRLQAQLSHVSREHSQE	NRVLREDNRRLQPQLSHVSREHSQE	10.0	4.0	-	-	3775_1:144865834-144865834 C>G_NRVLREDNRRLQPQLSHVSREHSQE
8:61761647-61761647 G>A	1.0	3775	CERVICAL	-	-	-	-	CHD7	uc003xue.3,p.E1780K|ENST00000423902,p.E1780K|NM_017780,p.E1780K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xue.3	nonsynonymous SNV	exon25	c.G5338A	p.E1780K	EADVWIPEPFHAEVPADWWDKEADK	EADVWIPEPFHAKVPADWWDKEADK	5.0	8.0	-	-	3775_8:61761647-61761647 G>A_EADVWIPEPFHAKVPADWWDKEADK
8:145754248-145754248 C>T	1.0	3775	CERVICAL	-	-	ID=COSM397356;OCCURENCE=1(lung)	-	C8orf82	ENST00000524821,p.G18E|NM_001001795,p.G18E|ENST00000534680,p.G18E|uc003zdp.1,p.G18E|ENST00000313465,p.G18E	protein_coding, nonsense_mediated_decay	uc003zdp.1	nonsynonymous SNV	exon1	c.G53A	p.G18E	GTLRTLALARSRGARACSGDGGVSY	GTLRTLALARSREARACSGDGGVSY	7.0	6.0	-	-	3775_8:145754248-145754248 C>T_GTLRTLALARSREARACSGDGGVSY
6:161027628-161027628 C>A	0.0	3775	CERVICAL	-	-	-	-	LPA	ENST00000447678,p.R889M|uc003qtl.3,p.R889M|NM_005577,p.R889M|ENST00000316300,p.R889M	protein_coding, processed_transcript	uc003qtl.3	nonsynonymous SNV	exon18	c.G2666T	p.R889M	NPDPVAAPYCYTRDPSVRWEYCNLT	NPDPVAAPYCYTMDPSVRWEYCNLT	1.0	7.0	unscreened	-	3775_6:161027628-161027628 C>A_NPDPVAAPYCYTMDPSVRWEYCNLT
1:167791356-167791356 C>T	0.0	3775	CERVICAL	-	-	-	-	ADCY10	ENST00000367851,p.E1398K|NM_001297772,p.E1306K|uc009wvk.3,p.E1306K|uc010plj.2,p.E1245K|ENST00000545172,p.E1245K|uc001ger.3,p.E1398K|NM_001167749,p.E1245K|NM_018417,p.E1398K|ENST00000367848,p.E1306K	protein_coding, processed_transcript	uc010plj.2	nonsynonymous SNV	exon27	c.G3733A	p.E1245K	LLYSGFVYRTFEECLEFIHQYENNR	LLYSGFVYRTFEKCLEFIHQYENNR	1.0	8.0	-	-	3775_1:167791356-167791356 C>T_LLYSGFVYRTFEKCLEFIHQYENNR
5:112177722-112177722 T>A	1.0	3775	CERVICAL	-	-	-	1	APC	ENST00000257430,p.L2144Q|ENST00000508376,p.L2144Q|uc003kpz.4,p.L2144Q|NM_001127510,p.L2144Q|NM_000038,p.L2144Q|ENST00000457016,p.L2144Q|uc011cvt.2,p.L2126Q|NM_001127511,p.L2126Q|uc003kpy.4,p.L2144Q|uc010jbz.3,p.L1861Q|uc010jca.3,p.L1444Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cvt.2	nonsynonymous SNV	exon14	c.T6377A	p.L2126Q	SDSILSLKSGISLGSPFHLTPDQEE	SDSILSLKSGISQGSPFHLTPDQEE	6.0	8.0	-	-	3775_5:112177722-112177722 T>A_SDSILSLKSGISQGSPFHLTPDQEE
10:3109890-3109890 G>C	0.0	3775	CERVICAL	-	-	-	-	PFKP	uc001igp.3,p.D35H|NM_002627,p.D35H|ENST00000381125,p.D35H	protein_coding, processed_transcript	uc001igp.3	nonsynonymous SNV	exon1	c.G103C	p.D35H	AGKAIGVLTSGGDAQGMNAAVRAVV	AGKAIGVLTSGGHAQGMNAAVRAVV	9.0	9.0	unscreened	-	3775_10:3109890-3109890 G>C_AGKAIGVLTSGGHAQGMNAAVRAVV
2:179431418-179431418 C>G	0.0	3775	CERVICAL	-	-	-	-	TTN	uc021vsy.2,p.A23913P|ENST00000342175,p.A17608P|NM_133437,p.A17608P|ENST00000460472,p.A17416P|uc021vsz.2,p.A17608P|uc021vta.2,p.A17541P|NM_001267550,p.A26481P|ENST00000591111,p.A24840P|uc031rqd.1,p.A24840P|NM_003319,p.A17416P|uc021vtb.2,p.A17416P|uc031rqc.1,p.A26481P|NM_133432,p.A17541P|NM_001256850,p.A24840P|ENST00000589042,p.A26481P|NM_133378,p.A23913P|ENST00000359218,p.A17541P|ENST00000342992,p.A23913P	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon276	c.G74518C	p.A24840P	VGEPSPATVYYKACDPVFKPGPPTN	VGEPSPATVYYKPCDPVFKPGPPTN	2.0	7.0	-	-	3775_2:179431418-179431418 C>G_VGEPSPATVYYKPCDPVFKPGPPTN
10:486889-486889 G>A	0.0	3775	CERVICAL	-	-	-	-	DIP2C	uc001ifp.3,p.R106W|NM_014974,p.R106W|ENST00000423550,p.R162W|ENST00000280886,p.R106W	protein_coding	uc001ifp.3	nonsynonymous SNV	exon4	c.C316T	p.R106W	EAVQAALAKHKERKMAVPMPSKRRS	EAVQAALAKHKEWKMAVPMPSKRRS	6.0	5.0	unscreened	-	3775_10:486889-486889 G>A_EAVQAALAKHKEWKMAVPMPSKRRS
5:180424485-180424485 G>A	0.0	3775	CERVICAL	-	-	-	-	BTNL3	uc003mmr.3,p.G224R|NM_197975,p.G224R|ENST00000342868,p.G224R	protein_coding	uc003mmr.3	nonsynonymous SNV	exon3	c.G670A	p.G224R	EQSHEVESKVLIGETFFQPSPWRLA	EQSHEVESKVLIRETFFQPSPWRLA	1.0	2.0	unscreened	-	3775_5:180424485-180424485 G>A_EQSHEVESKVLIRETFFQPSPWRLA
14:100165859-100165859 G>C	0.0	3775	CERVICAL	-	-	-	-	CYP46A1	ENST00000261835,p.Q113H|NM_006668,p.Q113H|uc001ygn.1,p.Q75H|ENST00000423126,p.Q16H|uc001ygo.3,p.Q113H	retained_intron, protein_coding, nonsense_mediated_decay	uc001ygo.3	nonsynonymous SNV	exon4	c.G339C	p.Q113H	KYNKDSKMYRALQTVFGERLFGQGL	KYNKDSKMYRALHTVFGERLFGQGL	1.0	7.0	-	-	3775_14:100165859-100165859 G>C_KYNKDSKMYRALHTVFGERLFGQGL
13:25479730-25479730 C>G	1.0	3775	CERVICAL	-	-	-	-	CENPJ	ENST00000381884,p.E816Q|uc001upt.5,p.E816Q|ENST00000545981,p.E816Q|NM_018451,p.E816Q	protein_coding, processed_transcript	uc001upt.5	nonsynonymous SNV	exon7	c.G2446C	p.E816Q	ENLCNHDVVLGNESTYGTPQTCYPN	ENLCNHDVVLGNQSTYGTPQTCYPN	7.0	8.0	-	-	3775_13:25479730-25479730 C>G_ENLCNHDVVLGNQSTYGTPQTCYPN
19:49206845-49206845 A>G	0.0	3775	CERVICAL	-	-	-	-	FUT2	uc002pke.4,p.K211R|NM_001097638,p.K211R|uc021uwx.1,p.K211R|NM_000511,p.K211R|ENST00000425340,p.K211R|ENST00000391876,p.K211R|uc010emc.3,p.K211R	protein_coding, processed_transcript	uc021uwx.1	nonsynonymous SNV	exon1	c.A632G	p.K211R	HVRRGDYVHVMPKVWKGVVADRRYL	HVRRGDYVHVMPRVWKGVVADRRYL	7.0	1.0	unscreened	-	3775_19:49206845-49206845 A>G_HVRRGDYVHVMPRVWKGVVADRRYL
4:147724765-147724765 G>C	0.0	3775	CERVICAL	-	-	-	-	TTC29	ENST00000325106,p.L392V|ENST00000398886,p.L418V|uc003ikw.4,p.L392V|uc010ipd.1,p.L392V|uc003ikx.4,p.L418V|NM_031956,p.L392V|ENST00000513335,p.L418V|ENST00000504425,p.L392V|NM_001300761,p.L418V	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ipd.1	nonsynonymous SNV	exon11	c.C1174G	p.L392V	AFDTTVELMSMPLMDETKVHYGIAK	AFDTTVELMSMPVMDETKVHYGIAK	1.0	4.0	-	-	3775_4:147724765-147724765 G>C_AFDTTVELMSMPVMDETKVHYGIAK
16:4949091-4949091 C>G	1.0	3775	CERVICAL	-	-	-	-	PPL	uc002cyd.1,p.E267Q|NM_002705,p.E267Q|ENST00000345988,p.E267Q|ENST00000590782,p.E265Q	retained_intron, protein_coding	uc002cyd.1	nonsynonymous SNV	exon8	c.G799C	p.E267Q	YENFINRNLEAKEERINKLHSEGDQ	YENFINRNLEAKQERINKLHSEGDQ	8.0	9.0	-	-	3775_16:4949091-4949091 C>G_YENFINRNLEAKQERINKLHSEGDQ
15:43501642-43501642 A>T	0.0	3775	CERVICAL	-	-	-	-	EPB42	ENST00000300215,p.F251Y|ENST00000441366,p.F221Y|uc001zra.4,p.F221Y|ENST00000540029,p.F143Y|ENST00000568508,p.F174Y|uc010udm.2,p.F143Y|NM_000119,p.F251Y|uc001zrb.4,p.F251Y|NM_001114134,p.F221Y	retained_intron, protein_coding, processed_transcript	uc010udm.2	nonsynonymous SNV	exon5	c.T428A	p.F143Y	VHVARVLGALLHFLKEQRVLPTPQT	VHVARVLGALLHYLKEQRVLPTPQT	2.0	1.0	unscreened	-	3775_15:43501642-43501642 A>T_VHVARVLGALLHYLKEQRVLPTPQT
4:8230023-8230023 ->T	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	uc003gkv.4,p.M868fs|uc003gkw.4,p.M792fs|ENST00000245105,p.M868fs|NM_018986,p.M868fs|ENST00000539824,p.M792fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	frameshift insertion	exon12	c.2375dupT	p.M792fs	VASEDQEGVIANMVAVALKRTGRTR	VASEDQEGVIANIGGRGSEEDGPDEAGS	7.0	9.0	unscreened	-	3775_4:8230023-8230023 ->T_VASEDQEGVIANIGGRGSEEDGPDEAGS
4:8229550-8229550 A>G	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	uc003gkw.4,p.Y634C|NM_018986,p.Y710C|uc003gkv.4,p.Y710C|ENST00000539824,p.Y634C|ENST00000245105,p.Y710C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon12	c.A1901G	p.Y634C	SGAPEAAWLSDCYLLLADIYSRKCL	SGAPEAAWLSDCCLLLADIYSRKCL	7.0	6.0	unscreened	-	3775_4:8229550-8229550 A>G_SGAPEAAWLSDCCLLLADIYSRKCL
1:247263788-247263788 G>A	0.0	3775	CERVICAL	-	-	ID=COSM906945;OCCURENCE=1(endometrium)	-	ZNF669	ENST00000448299,p.T342I|uc001ice.2,p.T428I|ENST00000343381,p.T428I|NM_024804,p.T428I|NM_001142572,p.T342I|uc001icf.2,p.T342I	protein_coding	uc001icf.2	nonsynonymous SNV	exon4	c.C1025T	p.T342I	KPYECKKCGKAYTRSSHLTRHERSH	KPYECKKCGKAYIRSSHLTRHERSH	5.0	3.0	unscreened	-	3775_1:247263788-247263788 G>A_KPYECKKCGKAYIRSSHLTRHERSH
4:6865157-6865157 C>G	0.0	3775	CERVICAL	-	-	-	-	KIAA0232	NM_014743,p.I1016M|ENST00000307659,p.I1016M|NM_001100590,p.I1016M|ENST00000425103,p.I1016M|uc003gjr.4,p.I1016M|uc003gjq.4,p.I1016M	protein_coding, processed_transcript	uc003gjr.4	nonsynonymous SNV	exon7	c.C3048G	p.I1016M	SGENGLNKGFSFIFHEDLLGACGNF	SGENGLNKGFSFMFHEDLLGACGNF	6.0	3.0	-	-	3775_4:6865157-6865157 C>G_SGENGLNKGFSFMFHEDLLGACGNF
9:104390548-104390548 C>G	0.0	3775	CERVICAL	-	-	-	-	GRIN3A	ENST00000361820,p.E830Q|uc004bbq.1,p.E830Q|NM_133445,p.E830Q|uc004bbp.2,p.E830Q	protein_coding, processed_transcript	uc004bbq.1	nonsynonymous SNV	exon4	c.G2488C	p.E830Q	RRYNVPATPDGVEYLKNDPEKLDAF	RRYNVPATPDGVQYLKNDPEKLDAF	3.0	2.0	unscreened	-	3775_9:104390548-104390548 C>G_RRYNVPATPDGVQYLKNDPEKLDAF
12:58001393-58001393 G>C	1.0	3775	CERVICAL	-	-	-	-	DTX3	ENST00000337737,p.Q249H|ENST00000551632,p.Q252H|ENST00000550300,p.Q37H|uc001soy.1,p.Q242H|uc001sox.1,p.Q242H|NM_001286245,p.Q252H|uc001sow.1,p.Q249H|ENST00000548804,p.Q249H|ENST00000548198,p.Q249H|NM_178502,p.Q249H|NM_001286246,p.Q249H	protein_coding	uc001soy.1	nonsynonymous SNV	exon3	c.G726C	p.Q242H	TIVIQYVFPPGVQGAEHPNPGVRYP	TIVIQYVFPPGVHGAEHPNPGVRYP	8.0	7.0	-	-	3775_12:58001393-58001393 G>C_TIVIQYVFPPGVHGAEHPNPGVRYP
X:129149596-129149596 C>-	0.0	3775	CERVICAL	-	-	-	1	BCORL1	uc022cdu.1,p.P950fs|NM_021946,p.P950fs|ENST00000218147,p.P950fs|ENST00000303743,p.P950fs|ENST00000540052,p.P950fs|uc010nrd.1,p.P852fs|ENST00000359304,p.P950fs|ENST00000456822,p.P550fs	protein_coding, processed_transcript	uc022cdu.1	frameshift deletion	exon3	c.2848delC	p.P950fs	QPSGGDIRMNQGPEESESHLCSDST	QPSGGDIRMNQGLRNQRATSALTALLRWKAPRGLVA	5.0	5.0	unscreened	-	3775_X:129149596-129149596 C>-_QPSGGDIRMNQGLRNQRATSALTALLRWKAPRGLVA
3:78735049-78735049 G>C	1.0	3775	CERVICAL	-	-	-	-	ROBO1	ENST00000436010,p.Q358E|uc003dqe.2,p.Q397E|NM_001145845,p.Q361E|ENST00000467549,p.Q361E|uc003dqf.1,p.Q76E|NM_133631,p.Q361E|uc003dqb.2,p.Q358E|uc003dqc.2,p.Q361E|uc003dqd.2,p.Q361E|NM_002941,p.Q397E|ENST00000495273,p.Q361E|ENST00000464233,p.Q397E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003dqf.1	nonsynonymous SNV	exon4	c.C226G	p.Q76E	RREGSQNLLFSYQPPQSSSRFSVSQ	RREGSQNLLFSYEPPQSSSRFSVSQ	8.0	9.0	-	-	3775_3:78735049-78735049 G>C_RREGSQNLLFSYEPPQSSSRFSVSQ
15:43501642-43501642 A>T	0.0	3775	CERVICAL	-	-	-	-	EPB42	ENST00000569204,p.F74Y	retained_intron, protein_coding, processed_transcript	ENST00000569204	nonsynonymous SNV	exon3	c.T221A	p.F74Y	IQAESWDFGQLHFLKEQRVLPTPQT	IQAESWDFGQLHYLKEQRVLPTPQT	2.0	1.0	unscreened	-	3775_15:43501642-43501642 A>T_IQAESWDFGQLHYLKEQRVLPTPQT
14:21058578-21058578 T>A	0.0	3775	CERVICAL	-	-	-	-	RNASE12	uc001vxt.3,p.K102M|ENST00000556526,p.K102M|NM_001024822,p.K102M	protein_coding	uc001vxt.3	nonsynonymous SNV	exon1	c.A305T	p.K102M	NLSAIFCFQSETKFKMTVCQLIEGT	NLSAIFCFQSETMFKMTVCQLIEGT	1.0	2.0	unscreened	-	3775_14:21058578-21058578 T>A_NLSAIFCFQSETMFKMTVCQLIEGT
5:74491836-74491836 C>T	0.0	3775	CERVICAL	-	-	-	-	ANKRD31	ENST00000506364,p.E213K|NM_001164443,p.E213K|uc003kdo.2,p.E213K|ENST00000274361,p.E213K	protein_coding, processed_transcript	uc003kdo.2	nonsynonymous SNV	exon7	c.G637A	p.E213K	VTMTMTSEETKDEESSLETFVSALE	VTMTMTSEETKDKESSLETFVSALE	2.0	9.0	-	-	3775_5:74491836-74491836 C>T_VTMTMTSEETKDKESSLETFVSALE
12:97038001-97038001 G>A	0.0	3775	CERVICAL	-	-	-	-	CDK17,NEDD1	uc001tes.3,p.M128I	retained_intron, protein_coding, processed_transcript	uc001tes.3	nonsynonymous SNV	exon6	c.G384A	p.M128I	RTSVRKAAQRYLMDYLNPLILSYVK	RTSVRKAAQRYLIDYLNPLILSYVK	3.0	2.0	unscreened	-	3775_12:97038001-97038001 G>A_RTSVRKAAQRYLIDYLNPLILSYVK
19:4670266-4670266 C>G	0.0	3775	CERVICAL	-	-	-	-	C19orf10	NM_019107,p.R27S|uc002may.3,p.R27S|ENST00000599630,p.R27S|ENST00000262947,p.R27S	retained_intron, protein_coding	uc002may.3	nonsynonymous SNV	exon1	c.G81C	p.R27S	LWAALLLGAVALRPAEAVSEPTTVA	LWAALLLGAVALSPAEAVSEPTTVA	10.0	2.0	-	-	3775_19:4670266-4670266 C>G_LWAALLLGAVALSPAEAVSEPTTVA
1:247264022-247264022 C>T	0.0	3775	CERVICAL	-	-	-	-	ZNF669	uc001ice.2,p.R350H|ENST00000343381,p.R350H|NM_001142572,p.R264H|uc001icf.2,p.R264H|ENST00000448299,p.R264H|NM_024804,p.R350H	protein_coding	uc001icf.2	nonsynonymous SNV	exon4	c.G791A	p.R264H	KCDKAFSCSTSLRYHGSIHTGERPY	KCDKAFSCSTSLHYHGSIHTGERPY	5.0	4.0	unscreened	-	3775_1:247264022-247264022 C>T_KCDKAFSCSTSLHYHGSIHTGERPY
4:8229946-8229946 C>T	0.0	3775	CERVICAL	-	-	ID=COSM1431341;OCCURENCE=1(large_intestine)	-	SH3TC1	ENST00000539824,p.P766L|uc003gkv.4,p.P842L|NM_018986,p.P842L|uc003gkw.4,p.P766L|ENST00000245105,p.P842L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon12	c.C2297T	p.P766L	ALAWLHVLHGQSPVALDILQSVRDA	ALAWLHVLHGQSLVALDILQSVRDA	7.0	4.0	unscreened	-	3775_4:8229946-8229946 C>T_ALAWLHVLHGQSLVALDILQSVRDA
1:240256230-240256230 C>T	0.0	3775	CERVICAL	-	-	-	-	FMN2	uc010pyd.2,p.S274F|ENST00000319653,p.S274F|uc010pye.2,p.S274F|NM_020066,p.S274F	protein_coding, processed_transcript	uc010pye.2	nonsynonymous SNV	exon1	c.C821T	p.S274F	EAPGSPDTEQALSALSDLPESLAAE	EAPGSPDTEQALFALSDLPESLAAE	2.0	7.0	-	-	3775_1:240256230-240256230 C>T_EAPGSPDTEQALFALSDLPESLAAE
10:708736-708736 C>T	0.0	3775	CERVICAL	-	-	-	-	PRR26	ENST00000381489,p.T144I|uc001ifr.3,p.T144I	protein_coding	uc001ifr.3	nonsynonymous SNV	exon3	c.C431T	p.T144I	EALSGFLVSDRRTKTVAGLRWLWLR	EALSGFLVSDRRIKTVAGLRWLWLR	1.0	10.0	unscreened	-	3775_10:708736-708736 C>T_EALSGFLVSDRRIKTVAGLRWLWLR
10:486833-486833 C>G	0.0	3775	CERVICAL	-	-	-	-	DIP2C	uc009xhk.1,p.R126P	protein_coding	uc009xhk.1	nonsynonymous SNV	exon3	c.G377C	p.R126P	CLPNAGPWSCRPRWTPTPLQIPLLA	CLPNAGPWSCRPPWTPTPLQIPLLA	6.0	3.0	unscreened	-	3775_10:486833-486833 C>G_CLPNAGPWSCRPPWTPTPLQIPLLA
9:109734420-109734420 G>A	0.0	3775	CERVICAL	-	-	-	-	ZNF462	uc011lvz.2,p.E145K|ENST00000457913,p.E2248K|ENST00000277225,p.E2188K|uc004bcz.3,p.E2188K|uc010mto.3,p.E2097K|uc004bda.3,p.E2096K|uc004bdb.1,p.E96K|ENST00000542028,p.E145K|NM_021224,p.E2188K|ENST00000374686,p.E1131K|ENST00000441147,p.E1094K	protein_coding, processed_transcript	uc011lvz.2	nonsynonymous SNV	exon4	c.G433A	p.E145K	LSGAAAGTEQKTEAVLHCEFCEFSS	LSGAAAGTEQKTKAVLHCEFCEFSS	5.0	8.0	-	-	3775_9:109734420-109734420 G>A_LSGAAAGTEQKTKAVLHCEFCEFSS
2:1481186-1481186 G>C	0.0	3775	CERVICAL	-	-	-	-	TPO	uc002qwu.3,p.G383A|NM_175719,p.G383A|ENST00000346956,p.G383A|ENST00000345913,p.G383A|NM_000547,p.G383A|ENST00000382201,p.G383A|ENST00000329066,p.G383A|NM_175721,p.G383A|ENST00000422464,p.G312A|uc002qwx.3,p.G383A|uc002qwr.3,p.G383A|uc002qww.3,p.G383A|NM_001206744,p.G383A|NM_001206745,p.G383A|uc010yip.2,p.G383A|ENST00000337415,p.G383A	protein_coding, processed_transcript	uc010yip.2	nonsynonymous SNV	exon7	c.G1148C	p.G383A	APAACAPEPGIPGETRGPCFLAGDG	APAACAPEPGIPAETRGPCFLAGDG	1.0	6.0	-	-	3775_2:1481186-1481186 G>C_APAACAPEPGIPAETRGPCFLAGDG
1:247264349-247264349 A>C	0.0	3775	CERVICAL	-	-	-	-	ZNF669	NM_024804,p.M241R|uc001ice.2,p.M241R|ENST00000343381,p.M241R|ENST00000448299,p.M155R|uc001icf.2,p.M155R|NM_001142572,p.M155R	protein_coding	uc001icf.2	nonsynonymous SNV	exon4	c.T464G	p.M155R	KFFVSVPGVRRHMIMHSGNPAYKCT	KFFVSVPGVRRHRIMHSGNPAYKCT	5.0	1.0	unscreened	-	3775_1:247264349-247264349 A>C_KFFVSVPGVRRHRIMHSGNPAYKCT
15:51676016-51676016 C>T	0.0	3775	CERVICAL	0.0009	-	-	-	GLDN	uc010bez.1,p.T139M	retained_intron, protein_coding	uc010bez.1	nonsynonymous SNV	exon3	c.C416T	p.T139M	QDLREPAGCQDTTDWMDSLVLRAQK	QDLREPAGCQDTMDWMDSLVLRAQK	3.0	3.0	unscreened	-	3775_15:51676016-51676016 C>T_QDLREPAGCQDTMDWMDSLVLRAQK
5:180424309-180424309 C>T	0.0	3775	CERVICAL	-	-	-	-	BTNL3	ENST00000342868,p.A165V|uc003mmr.3,p.A165V|NM_197975,p.A165V	protein_coding	uc003mmr.3	nonsynonymous SNV	exon3	c.C494T	p.A165V	LCLSSGWFPQPTAKWKGPQGQDLSS	LCLSSGWFPQPTVKWKGPQGQDLSS	1.0	1.0	unscreened	-	3775_5:180424309-180424309 C>T_LCLSSGWFPQPTVKWKGPQGQDLSS
4:8230135-8230135 G>T	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	NM_018986,p.G905V|ENST00000539824,p.G829V|uc003gkw.4,p.G829V|uc003gkv.4,p.G905V|ENST00000245105,p.G905V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon12	c.G2486T	p.G829V	ARDLGQQRNQAVGLANFGALCLHAG	ARDLGQQRNQAVVLANFGALCLHAG	7.0	4.0	unscreened	-	3775_4:8230135-8230135 G>T_ARDLGQQRNQAVVLANFGALCLHAG
13:53422174-53422174 G>A	0.0	3775	CERVICAL	-	-	-	-	PCDH8	uc001vhj.3,p.P133L|ENST00000377942,p.P133L|uc001vhi.3,p.P133L|ENST00000338862,p.P133L|NM_002590,p.P133L|NM_032949,p.P133L	protein_coding	uc001vhj.3	nonsynonymous SNV	exon1	c.C398T	p.P133L	VEVEVRDVNDHAPRFPRAQIPVEVS	VEVEVRDVNDHALRFPRAQIPVEVS	4.0	9.0	-	-	3775_13:53422174-53422174 G>A_VEVEVRDVNDHALRFPRAQIPVEVS
4:8229282-8229282 G>A	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	ENST00000245105,p.A621T|ENST00000539824,p.A545T|NM_018986,p.A621T|uc003gkw.4,p.A545T|uc003gkv.4,p.A621T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon12	c.G1633A	p.A545T	SIYRKQKNREKCAQVVPKAMALLLG	SIYRKQKNREKCTQVVPKAMALLLG	7.0	2.0	unscreened	-	3775_4:8229282-8229282 G>A_SIYRKQKNREKCTQVVPKAMALLLG
20:741813-741813 C>T	0.0	3775	CERVICAL	-	-	-	-	SLC52A3	uc002wed.4,p.D423N|NM_033409,p.D423N|ENST00000217254,p.D423N	protein_coding, processed_transcript	uc002wed.4	nonsynonymous SNV	exon5	c.G1267A	p.D423N	SYVKVMLGVVLRDLSRSALLWCGAA	SYVKVMLGVVLRNLSRSALLWCGAA	5.0	10.0	-	-	3775_20:741813-741813 C>T_SYVKVMLGVVLRNLSRSALLWCGAA
3:155206530-155206530 G>A	0.0	3775	CERVICAL	-	-	ID=COSM1420168,COSM1420169;OCCURENCE=1(large_intestine)	-	PLCH1	ENST00000494598,p.R808W|NM_001130961,p.R808W|uc021xgf.1,p.R790W|NM_014996,p.R790W|NM_001130960,p.R808W|ENST00000460012,p.R790W|ENST00000340059,p.R808W|ENST00000334686,p.R790W|ENST00000414191,p.R790W|uc021xge.1,p.R808W|ENST00000447496,p.R808W|uc021xgd.1,p.R808W	retained_intron, protein_coding	uc021xgf.1	nonsynonymous SNV	exon19	c.C2368T	p.R790W	TFTVHMPEIALVRFLVWDHDPIGRD	TFTVHMPEIALVWFLVWDHDPIGRD	3.0	6.0	-	-	3775_3:155206530-155206530 G>A_TFTVHMPEIALVWFLVWDHDPIGRD
22:31521399-31521399 C>T	0.0	3775	CERVICAL	-	-	-	-	INPP5J	uc011alk.2,p.S158L|ENST00000412277,p.S158L|NM_001284286,p.S158L|ENST00000331075,p.S225L|NM_001284285,p.S225L|uc003aju.4,p.S225L|uc010gwf.3,p.S225L	retained_intron, protein_coding, processed_transcript	uc011alk.2	nonsynonymous SNV	exon3	c.C473T	p.S158L	TQEQALAPASTASGAASVGQTSARK	TQEQALAPASTALGAASVGQTSARK	3.0	9.0	-	-	3775_22:31521399-31521399 C>T_TQEQALAPASTALGAASVGQTSARK
5:134367106-134367106 T>G	1.0	3775	CERVICAL	0.0005	-	-	-	PITX1	ENST00000265340,p.K88Q|ENST00000507253,p.K88Q|uc010jea.3,p.K88Q|ENST00000502676,p.K88Q|NM_002653,p.K88Q|ENST00000506438,p.K88Q	retained_intron, protein_coding	uc010jea.3	nonsynonymous SNV	exon2	c.A262C	p.K88Q	GCGGADDPAKKKKQRRQRTHFTSQQ	GCGGADDPAKKKQQRRQRTHFTSQQ	10.0	9.0	-	-	3775_5:134367106-134367106 T>G_GCGGADDPAKKKQQRRQRTHFTSQQ
X:105450417-105450417 C>T	0.0	3775	CERVICAL	-	-	-	-	MUM1L1	uc004emf.2,p.S331L|uc004emg.2,p.S331L|NM_001171020,p.S331L|ENST00000357175,p.S331L|ENST00000337685,p.S331L|ENST00000372552,p.S331L|uc022cca.1,p.S331L|NM_152423,p.S331L	protein_coding	uc022cca.1	nonsynonymous SNV	exon1	c.C992T	p.S331L	VSFSASNPVWDYSHLMSSERNFQRL	VSFSASNPVWDYLHLMSSERNFQRL	1.0	7.0	-	-	3775_X:105450417-105450417 C>T_VSFSASNPVWDYLHLMSSERNFQRL
6:9908768-9908768 G>A	0.0	3775	CERVICAL	-	-	ID=COSM1329382;OCCURENCE=1(ovary)	-	LOC100506207,TFAP2A	ENST00000460363,p.T109M|uc003myh.1,p.T109M	protein_coding, processed_transcript, nonsense_mediated_decay	uc003myh.1	nonsynonymous SNV	exon4	c.C326T	p.T109M	LMDEEINPRQCATEVSREVCLMAKG	LMDEEINPRQCAMEVSREVCLMAKG	1.0	1.0	unscreened	-	3775_6:9908768-9908768 G>A_LMDEEINPRQCAMEVSREVCLMAKG
2:216296579-216296579 C>A	0.0	3775	CERVICAL	-	-	-	-	FN1	uc002vfa.3,p.G175V|NM_212478,p.G175V|ENST00000357009,p.G175V|ENST00000443816,p.G175V|uc002vfh.3,p.G175V|uc002vfi.3,p.G175V|uc002vfb.3,p.G175V|ENST00000336916,p.G175V|ENST00000446046,p.G175V|ENST00000357867,p.G175V|NM_054034,p.G175V|uc002vfe.3,p.G175V|ENST00000359671,p.G175V|NM_212474,p.G175V|uc002vff.3,p.G175V|ENST00000346544,p.G175V|uc002vfc.3,p.G175V|ENST00000421182,p.G175V|NM_212476,p.G175V|uc002vfg.3,p.G175V|uc002vfl.3,p.G175V|ENST00000426059,p.G175V|ENST00000323926,p.G175V|uc002vfj.3,p.G175V|NM_212482,p.G175V|ENST00000356005,p.G175V|ENST00000354785,p.G175V|NM_002026,p.G175V|ENST00000432072,p.G175V|ENST00000345488,p.G175V	retained_intron, protein_coding, processed_transcript	uc002vfl.3	nonsynonymous SNV	exon4	c.G524T	p.G175V	YMLECVCLGNGKGEWTCKPIAEKCF	YMLECVCLGNGKVEWTCKPIAEKCF	10.0	9.0	-	-	3775_2:216296579-216296579 C>A_YMLECVCLGNGKVEWTCKPIAEKCF
16:83999125-83999125 G>A	1.0	3775	CERVICAL	-	-	-	-	OSGIN1	uc002fhb.4,p.R316H|uc002fhc.3,p.R316H|ENST00000343939,p.R399H|ENST00000361711,p.R316H|NM_182981,p.R316H|uc002fha.4,p.R399H|ENST00000393306,p.R316H	protein_coding, processed_transcript	uc002fhc.3	nonsynonymous SNV	exon6	c.G947A	p.R316H	ARHYNIPVIHAFRRAVDDPGLVFNQ	ARHYNIPVIHAFHRAVDDPGLVFNQ	4.0	5.0	-	-	3775_16:83999125-83999125 G>A_ARHYNIPVIHAFHRAVDDPGLVFNQ
13:39265382-39265382 G>T	0.0	3775	CERVICAL	-	-	-	-	FREM2	ENST00000280481,p.D1301Y|NM_207361,p.D1301Y|uc001uwv.3,p.D1301Y	protein_coding, processed_transcript	uc001uwv.3	nonsynonymous SNV	exon1	c.G3901T	p.D1301Y	EKTVLIIVIPVDDETPRMTINNGLE	EKTVLIIVIPVDYETPRMTINNGLE	1.0	7.0	-	-	3775_13:39265382-39265382 G>T_EKTVLIIVIPVDYETPRMTINNGLE
9:4661904-4661904 C>G	0.0	3775	CERVICAL	-	-	-	-	SPATA6L	NM_001039395,p.E58Q|ENST00000475086,p.E58Q|uc011llz.2,p.E58Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011llz.2	nonsynonymous SNV	exon3	c.G172C	p.E58Q	AFPIMIQESMRFEKGIAPKIEFSTR	AFPIMIQESMRFQKGIAPKIEFSTR	4.0	10.0	-	-	3775_9:4661904-4661904 C>G_AFPIMIQESMRFQKGIAPKIEFSTR
X:39913287-39913287 C>T	0.0	3775	CERVICAL	-	-	-	1	BCOR	uc004dep.4,p.D1576N|uc004dem.4,p.D1576N|ENST00000378463,p.D453N|ENST00000413905,p.D480N|uc004den.4,p.D1610N|ENST00000342274,p.D1576N|NM_001123383,p.D1576N|uc004deo.4,p.D1558N|ENST00000397354,p.D1576N|ENST00000378444,p.D1610N|ENST00000378455,p.D1558N|NM_017745,p.D1576N|NM_001123384,p.D1558N|uc010nhb.3,p.D318N|NM_001123385,p.D1610N|ENST00000442018,p.D283N	retained_intron, protein_coding	uc010nhb.3	nonsynonymous SNV	exon6	c.G952A	p.D318N	WDFYGSSVCEPDDESGYDVLANPPG	WDFYGSSVCEPDNESGYDVLANPPG	7.0	6.0	-	-	3775_X:39913287-39913287 C>T_WDFYGSSVCEPDNESGYDVLANPPG
12:42593007-42593007 A>C	0.0	3775	CERVICAL	-	-	-	-	YAF2	ENST00000380788,p.L19W|uc010sko.2,p.L19W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sko.2	nonsynonymous SNV	exon3	c.T56G	p.L19W	PPEITGREPGYHLVEQSCWLKPLPR	PPEITGREPGYHWVEQSCWLKPLPR	7.0	2.0	unscreened	-	3775_12:42593007-42593007 A>C_PPEITGREPGYHWVEQSCWLKPLPR
17:5042827-5042827 G>C	0.0	3775	CERVICAL	-	-	-	1	USP6	uc002gau.1,p.K452N|NM_004505,p.K452N|uc002gav.1,p.K452N|ENST00000574788,p.K452N|ENST00000572949,p.K452N|ENST00000304328,p.K135N|uc010ckz.1,p.K135N|ENST00000250066,p.K452N|ENST00000332776,p.K452N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ckz.1	nonsynonymous SNV	exon15	c.G405C	p.K135N	GGPQGSWRFLEWKSMPRLPTDLDIG	GGPQGSWRFLEWNSMPRLPTDLDIG	4.0	2.0	unscreened	-	3775_17:5042827-5042827 G>C_GGPQGSWRFLEWNSMPRLPTDLDIG
11:77413249-77413249 T>C	0.0	3775	CERVICAL	-	-	-	-	RSF1	NM_016578,p.K342R|uc001oym.3,p.K90R|ENST00000480887,p.K90R|ENST00000360355,p.K311R|ENST00000526324,p.K143R|uc001oyn.3,p.K342R|ENST00000308488,p.K342R|ENST00000528095,p.K341R	retained_intron, protein_coding, processed_transcript	uc001oyn.3	nonsynonymous SNV	exon6	c.A1025G	p.K342R	RADPKDTKSSMEKPVAQEPERIEFG	RADPKDTKSSMERPVAQEPERIEFG	8.0	2.0	unscreened	-	3775_11:77413249-77413249 T>C_RADPKDTKSSMERPVAQEPERIEFG
7:92129085-92129085 C>T	0.0	3775	CERVICAL	-	-	-	-	PEX1	uc003uly.3,p.G884E|uc010ley.3,p.G827E|ENST00000248633,p.G884E|uc011khr.2,p.G676E|NM_000466,p.G884E|ENST00000428214,p.G827E|ENST00000438045,p.G562E|uc011khs.2,p.G562E|NM_001282678,p.G676E|NM_001282677,p.G827E	retained_intron, protein_coding, nonsense_mediated_decay	uc011khs.2	nonsynonymous SNV	exon13	c.G1685A	p.G562E	RQRTGILLYGPPGTGKTLLAGVIAR	RQRTGILLYGPPETGKTLLAGVIAR	8.0	5.0	-	-	3775_7:92129085-92129085 C>T_RQRTGILLYGPPETGKTLLAGVIAR
22:26868361-26868361 G>T	1.0	3775	CERVICAL	-	-	-	-	HPS4	uc003aci.4,p.S131R|ENST00000398141,p.S131R|uc010gvd.2,p.S136R|ENST00000439453,p.S136R|NM_022081,p.S136R|ENST00000402105,p.S131R|uc003acl.4,p.S136R|ENST00000464362,p.S131R|ENST00000336873,p.S136R|NM_152841,p.S131R|ENST00000429411,p.S131R|ENST00000398145,p.S136R|ENST00000422379,p.S136R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010gvd.2	nonsynonymous SNV	exon6	c.C408A	p.S136R	SLAYENCSQEELSTEWDTFIEQILK	SLAYENCSQEELRTEWDTFIEQILK	9.0	8.0	-	-	3775_22:26868361-26868361 G>T_SLAYENCSQEELRTEWDTFIEQILK
1:247264103-247264103 G>A	0.0	3775	CERVICAL	-	-	-	-	ZNF669	NM_001142572,p.T237M|uc001icf.2,p.T237M|NM_024804,p.T323M|ENST00000343381,p.T323M|ENST00000448299,p.T237M|uc001ice.2,p.T323M	protein_coding	uc001icf.2	nonsynonymous SNV	exon4	c.C710T	p.T237M	CGKTFRFSCSFKTHERTHTGERPYK	CGKTFRFSCSFKMHERTHTGERPYK	5.0	5.0	unscreened	-	3775_1:247264103-247264103 G>A_CGKTFRFSCSFKMHERTHTGERPYK
20:17640899-17640899 T>G	0.0	3775	CERVICAL	-	-	-	-	RRBP1	uc010zrr.1,p.D85A|uc002wpv.1,p.D85A|ENST00000246043,p.D85A|uc010zrq.1,p.D85A|uc002wpw.1,p.D85A|ENST00000360807,p.D85A|NM_001042576,p.D85A|NM_004587,p.D85A|ENST00000398782,p.D85A|ENST00000377807,p.D85A|ENST00000377813,p.D85A|uc021waw.1,p.D85A	protein_coding, processed_transcript	uc021waw.1	nonsynonymous SNV	exon1	c.A254C	p.D85A	KKKEEKPNGKIPDHDPAPNVTVLLR	KKKEEKPNGKIPAHDPAPNVTVLLR	10.0	4.0	-	-	3775_20:17640899-17640899 T>G_KKKEEKPNGKIPAHDPAPNVTVLLR
13:45578572-45578572 G>T	0.0	3775	CERVICAL	-	-	-	-	GPALPP1	NM_018559,p.R74I|ENST00000497558,p.R74I|ENST00000379151,p.R74I|uc001uzq.3,p.R74I|uc001uzr.1,p.R74I|ENST00000361121,p.R74I	protein_coding, processed_transcript, nonsense_mediated_decay	uc001uzr.1	nonsynonymous SNV	exon2	c.G221T	p.R74I	QESEEDDSGPTARKQRKNQDDDDDD	QESEEDDSGPTAIKQRKNQDDDDDD	7.0	10.0	-	-	3775_13:45578572-45578572 G>T_QESEEDDSGPTAIKQRKNQDDDDDD
1:33960589-33960589 G>C	0.0	3775	CERVICAL	-	-	-	-	ZSCAN20	uc009vui.3,p.R881T|NM_145238,p.R882T|ENST00000361328,p.R882T|uc001bxj.4,p.R882T	protein_coding, processed_transcript	uc009vui.3	nonsynonymous SNV	exon8	c.G2642C	p.R881T	SGEKLYECSECGRSFSKSSALISHQ	SGEKLYECSECGTSFSKSSALISHQ	4.0	9.0	-	-	3775_1:33960589-33960589 G>C_SGEKLYECSECGTSFSKSSALISHQ
10:696286-696286 A>T	0.0	3775	CERVICAL	-	-	-	-	PRR26	uc001ifr.3,p.K79M|ENST00000381489,p.K79M	protein_coding	uc001ifr.3	nonsynonymous SNV	exon1	c.A236T	p.K79M	PGLWTTPAHSHCKPQTGAVDNASPR	PGLWTTPAHSHCMPQTGAVDNASPR	1.0	10.0	unscreened	-	3775_10:696286-696286 A>T_PGLWTTPAHSHCMPQTGAVDNASPR
20:43353451-43353451 G>C	0.0	3775	CERVICAL	-	-	-	-	WISP2	ENST00000372868,p.C117S|NM_003881,p.C117S|uc002xmp.3,p.C117S|ENST00000190983,p.C117S	protein_coding, processed_transcript	uc002xmp.3	nonsynonymous SNV	exon3	c.G350C	p.C117S	RLYREGETFQPHCSIRCRCEDGGFT	RLYREGETFQPHSSIRCRCEDGGFT	7.0	6.0	-	-	3775_20:43353451-43353451 G>C_RLYREGETFQPHSSIRCRCEDGGFT
15:43309307-43309307 T>C	0.0	3775	CERVICAL	-	-	-	-	UBR1	uc010udk.1,p.I1005V|ENST00000290650,p.I1005V|NM_174916,p.I1005V|uc001zqq.3,p.I1005V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010udk.1	nonsynonymous SNV	exon28	c.A3013G	p.I1005V	CLIVATTSGSESIKNDEITHDKEKA	CLIVATTSGSESVKNDEITHDKEKA	6.0	2.0	unscreened	-	3775_15:43309307-43309307 T>C_CLIVATTSGSESVKNDEITHDKEKA
6:44280987-44280987 A>G	0.0	3775	CERVICAL	-	-	-	-	AARS2	NM_020745,p.L25P|ENST00000244571,p.L25P|uc010jza.1,p.L25P	protein_coding, processed_transcript	uc010jza.1	nonsynonymous SNV	exon1	c.T74C	p.L25P	RRAIRRSPAWRGLSHRPLSSEPPAA	RRAIRRSPAWRGPSHRPLSSEPPAA	6.0	1.0	unscreened	-	3775_6:44280987-44280987 A>G_RRAIRRSPAWRGPSHRPLSSEPPAA
4:121958399-121958399 G>T	0.0	3775	CERVICAL	-	-	-	-	NDNF	uc003idq.1,p.P243T|ENST00000379692,p.P243T|NM_024574,p.P243T	protein_coding, processed_transcript	uc003idq.1	nonsynonymous SNV	exon4	c.C727A	p.P243T	LSADDAFMMAPKPGLDFSPFDFAHF	LSADDAFMMAPKTGLDFSPFDFAHF	3.0	9.0	-	-	3775_4:121958399-121958399 G>T_LSADDAFMMAPKTGLDFSPFDFAHF
4:651196-651196 G>T	0.0	3775	CERVICAL	-	-	-	-	PDE6B	NM_000283,p.M438I|ENST00000429163,p.M159I|ENST00000255622,p.M438I|ENST00000496514,p.M438I|uc011buy.2,p.M159I|uc003gao.4,p.M438I|NM_001145291,p.M438I|uc003gap.3,p.M438I|NM_001145292,p.M159I	retained_intron, protein_coding	uc011buy.2	nonsynonymous SNV	exon8	c.G477T	p.M159I	GWSVMNTDTYDKMNKLENRKDIAQD	GWSVMNTDTYDKINKLENRKDIAQD	5.0	9.0	-	-	3775_4:651196-651196 G>T_GWSVMNTDTYDKINKLENRKDIAQD
17:76510942-76510942 C>T	0.0	3775	CERVICAL	-	-	-	-	DNAH17	uc010dhp.2,p.V1343M|NM_173628,p.V1343M|ENST00000585328,p.V1340M|ENST00000389840,p.V1339M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dhp.2	nonsynonymous SNV	exon26	c.G4027A	p.V1343M	DAFVGLDNTVKNVITSLRAVSELQN	DAFVGLDNTVKNMITSLRAVSELQN	7.0	4.0	unscreened	-	3775_17:76510942-76510942 C>T_DAFVGLDNTVKNMITSLRAVSELQN
19:36340175-36340175 C>T	0.0	3775	CERVICAL	0.0027	-	-	-	NPHS1	ENST00000378910,p.R268Q|NM_004646,p.R268Q|uc002oby.3,p.R268Q|ENST00000353632,p.R268Q	retained_intron, protein_coding	uc002oby.3	nonsynonymous SNV	exon7	c.G803A	p.R268Q	RAGQSLELPCVARGGNPLATLQWLK	RAGQSLELPCVAQGGNPLATLQWLK	1.0	3.0	unscreened	-	3775_19:36340175-36340175 C>T_RAGQSLELPCVAQGGNPLATLQWLK
14:60010093-60010093 C>T	0.0	3775	CERVICAL	-	-	-	-	CCDC175	NM_001164399,p.E418K|uc021rtw.1,p.E418K|ENST00000537690,p.E418K|ENST00000281581,p.E418K	protein_coding	uc021rtw.1	nonsynonymous SNV	exon10	c.G1252A	p.E418K	LSQKRVDIKNMEEGLITLQELQQAT	LSQKRVDIKNMEKGLITLQELQQAT	1.0	8.0	unscreened	-	3775_14:60010093-60010093 C>T_LSQKRVDIKNMEKGLITLQELQQAT
7:99084818-99084818 C>G	0.0	3775	CERVICAL	-	-	-	-	ZNF789	uc003uqq.1,p.L329V|NM_213603,p.L329V|uc010lfw.1,p.L234V|ENST00000331410,p.L329V|uc003uqr.1,p.L271V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lfw.1	nonsynonymous SNV	exon7	c.C700G	p.L234V	ECGKAFGRHSTLLCHQQIHSKPNTH	ECGKAFGRHSTLVCHQQIHSKPNTH	7.0	10.0	-	-	3775_7:99084818-99084818 C>G_ECGKAFGRHSTLVCHQQIHSKPNTH
19:16883984-16883984 G>A	0.0	3775	CERVICAL	0.0005	-	ID=COSM3403894,COSM3403895;OCCURENCE=1(central_nervous_system)	-	NWD1	uc002neu.4,p.A820T|NM_001007525,p.A820T|ENST00000524140,p.A820T|ENST00000379808,p.A820T|uc002net.4,p.A685T|ENST00000523826,p.A614T|ENST00000339803,p.A685T|uc002nev.4,p.A614T|NM_001290355,p.A685T|ENST00000549814,p.A820T|ENST00000552788,p.A820T	protein_coding, nonsense_mediated_decay	uc002nev.4	nonsynonymous SNV	exon10	c.G1840A	p.A614T	LYTELLARLHFFATSHPALVGQLCQ	LYTELLARLHFFTTSHPALVGQLCQ	1.0	1.0	unscreened	-	3775_19:16883984-16883984 G>A_LYTELLARLHFFTTSHPALVGQLCQ
17:34495990-34495990 C>G	0.0	3775	CERVICAL	-	-	-	-	CCL4,CCL3L3	uc002hky.2,p.G276R|ENST00000398801,p.G276R|ENST00000454519,p.G276R	retained_intron, protein_coding, nonsense_mediated_decay	uc002hky.2	nonsynonymous SNV	exon11	c.G826C	p.G276R	SPLGCLIRILIDGISLGLTLRLWDV	SPLGCLIRILIDRISLGLTLRLWDV	5.0	6.0	unscreened	-	3775_17:34495990-34495990 C>G_SPLGCLIRILIDRISLGLTLRLWDV
9:36170618-36170618 ->G	0.0	3775	CERVICAL	-	-	-	-	CCIN	ENST00000335119,p.C373fs|uc003zzb.4,p.C373fs|NM_005893,p.C373fs	protein_coding	uc003zzb.4	frameshift insertion	exon1	c.1120dupG	p.C373fs	LPIGLVFHTMVTCGGTVYSVGGSIA	LPIGLVFHTMVTCGGDSVLSGREHCPKAVCLQHLSL	2.0	8.0	unscreened	-	3775_9:36170618-36170618 ->G_LPIGLVFHTMVTCGGDSVLSGREHCPKAVCLQHLSL
4:8228841-8228841 G>A	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	uc003gkw.4,p.D398N|ENST00000539824,p.D398N|uc003gkv.4,p.D474N|ENST00000245105,p.D474N|NM_018986,p.D474N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon12	c.G1192A	p.D398N	EPASWGLCAASSDVSLQDPEEPSFC	EPASWGLCAASSNVSLQDPEEPSFC	7.0	6.0	unscreened	-	3775_4:8228841-8228841 G>A_EPASWGLCAASSNVSLQDPEEPSFC
10:708043-708043 T>C	0.0	3775	CERVICAL	-	-	-	-	PRR26	uc001ifr.3,p.F137S|ENST00000381489,p.F137S	protein_coding	uc001ifr.3	nonsynonymous SNV	exon2	c.T410C	p.F137S	IKGTILSEALSGFLVSDRRTKTVAG	IKGTILSEALSGSLVSDRRTKTVAG	1.0	1.0	unscreened	-	3775_10:708043-708043 T>C_IKGTILSEALSGSLVSDRRTKTVAG
11:102195247-102195247 A>T	0.0	3775	CERVICAL	-	-	-	1	BIRC3	ENST00000263464,p.I3L|NM_001165,p.I3L|ENST00000532808,p.I3L|uc001pgx.3,p.I3L|NM_182962,p.I3L	retained_intron, protein_coding, processed_transcript	uc001pgx.3	nonsynonymous SNV	exon2	c.A7T	p.I3L	MNIVENSIFLSNLMK	MNLVENSIFLSNLMK	9.0	7.0	-	-	3775_11:102195247-102195247 A>T_MNLVENSIFLSNLMK
4:8238098-8238098 G>A	0.0	3775	CERVICAL	0.0009	-	-	-	SH3TC1	uc003gkw.4,p.E1091K|ENST00000539824,p.E1091K|uc003gkv.4,p.E1167K|ENST00000245105,p.E1167K|NM_018986,p.E1167K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon16	c.G3271A	p.E1091K	CNKLVALLATLEEPQEGLEFAHMAL	CNKLVALLATLEKPQEGLEFAHMAL	7.0	2.0	unscreened	-	3775_4:8238098-8238098 G>A_CNKLVALLATLEKPQEGLEFAHMAL
4:8228830-8228830 C>T	0.0	3775	CERVICAL	-	-	ID=COSM1058107;OCCURENCE=1(endometrium)	-	SH3TC1	uc003gkw.4,p.A394V|NM_018986,p.A470V|ENST00000539824,p.A394V|uc003gkv.4,p.A470V|ENST00000245105,p.A470V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon12	c.C1181T	p.A394V	GCPQEPASWGLCAASSDVSLQDPEE	GCPQEPASWGLCVASSDVSLQDPEE	7.0	4.0	unscreened	-	3775_4:8228830-8228830 C>T_GCPQEPASWGLCVASSDVSLQDPEE
14:20345046-20345046 C>T	0.0	3775	CERVICAL	-	-	ID=COSM954090;OCCURENCE=1(endometrium)	-	OR4K2	uc001vwh.1,p.A207V|ENST00000298642,p.A207V|NM_001005501,p.A207V	protein_coding	uc001vwh.1	nonsynonymous SNV	exon1	c.C620T	p.A207V	LGLFMISTSGIIALSCFIVLFNSYV	LGLFMISTSGIIVLSCFIVLFNSYV	1.0	4.0	-	-	3775_14:20345046-20345046 C>T_LGLFMISTSGIIVLSCFIVLFNSYV
4:138452557-138452557 G>A	0.0	3775	CERVICAL	-	-	ID=COSM3775565;OCCURENCE=1(urinary_tract)	-	PCDH18	NM_001300828,p.S229L|NM_019035,p.S229L|uc003ihe.4,p.S229L|uc003ihf.4,p.S222L|ENST00000412923,p.S229L|ENST00000344876,p.S229L	protein_coding	uc003ihf.4	nonsynonymous SNV	exon1	c.C665T	p.S222L	TASDMGVPQRSGSSILKISISDSND	TASDMGVPQRSGLSILKISISDSND	6.0	8.0	-	-	3775_4:138452557-138452557 G>A_TASDMGVPQRSGLSILKISISDSND
6:159403665-159403665 G>A	0.0	3775	CERVICAL	0.0005	-	-	-	RSPH3	ENST00000367069,p.T183I|ENST00000252655,p.T325I|uc010kju.3,p.T229I|NM_031924,p.T325I|uc003qrx.3,p.T325I|ENST00000449822,p.T87I|ENST00000297262,p.T229I	protein_coding	uc010kju.3	nonsynonymous SNV	exon3	c.C686T	p.T229I	EVKPVLEVLVGKTIEQSLLEVMEEE	EVKPVLEVLVGKIIEQSLLEVMEEE	5.0	2.0	unscreened	-	3775_6:159403665-159403665 G>A_EVKPVLEVLVGKIIEQSLLEVMEEE
8:38947673-38947673 A>C	0.0	3775	CERVICAL	-	-	-	-	ADAM9	ENST00000487273,p.S726R|uc003xmr.3,p.S726R|NM_003816,p.S726R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xmr.3	nonsynonymous SNV	exon19	c.A2176C	p.S726R	IFIFIKRDQLWRSYFRKKRSQTYES	IFIFIKRDQLWRRYFRKKRSQTYES	9.0	2.0	unscreened	-	3775_8:38947673-38947673 A>C_IFIFIKRDQLWRRYFRKKRSQTYES
17:27423891-27423891 G>C	0.0	3775	CERVICAL	-	-	-	-	MYO18A	uc010wbc.1,p.L967V|NM_078471,p.L1425V|ENST00000531253,p.L1425V|ENST00000527372,p.L1425V|uc002hdu.1,p.L1425V|uc010wbd.1,p.L1094V|uc010csa.1,p.L1425V|ENST00000354329,p.L1425V|uc002hdt.1,p.L1425V|NM_203318,p.L1425V|ENST00000533112,p.L1425V|uc002hds.2,p.L967V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wbd.1	nonsynonymous SNV	exon27	c.C3280G	p.L1094V	DLQADSEESQRALQQLKKKCQRLTA	DLQADSEESQRAVQQLKKKCQRLTA	9.0	6.0	-	-	3775_17:27423891-27423891 G>C_DLQADSEESQRAVQQLKKKCQRLTA
10:708786-708786 C>G	0.0	3775	CERVICAL	-	-	-	-	PRR26	ENST00000381489,p.P161A|uc001ifr.3,p.P161A	protein_coding	uc001ifr.3	nonsynonymous SNV	exon3	c.C481G	p.P161A	GLRWLWLRKEATPTASRTTLSSSLA	GLRWLWLRKEATATASRTTLSSSLA	1.0	3.0	unscreened	-	3775_10:708786-708786 C>G_GLRWLWLRKEATATASRTTLSSSLA
10:16970225-16970225 A>G	0.0	3775	CERVICAL	-	-	-	-	CUBN	ENST00000377833,p.Y2068H|NM_001081,p.Y2068H|uc001ioo.3,p.Y2068H	protein_coding	uc001ioo.3	nonsynonymous SNV	exon41	c.T6202C	p.Y2068H	REIPGPIRSTGEYMFIRFTSDSSVT	REIPGPIRSTGEHMFIRFTSDSSVT	2.0	1.0	unscreened	-	3775_10:16970225-16970225 A>G_REIPGPIRSTGEHMFIRFTSDSSVT
16:48230197-48230197 C>G	0.0	3775	CERVICAL	-	-	-	-	ABCC11	uc002efh.1,p.E784Q|ENST00000356608,p.E784Q|uc002eff.1,p.E784Q|ENST00000394748,p.E784Q|uc002efg.1,p.E784Q|ENST00000394747,p.E784Q|NM_033151,p.E784Q|NM_032583,p.E784Q|NM_145186,p.E784Q|ENST00000353782,p.E784Q	retained_intron, protein_coding, processed_transcript	uc002efh.1	nonsynonymous SNV	exon18	c.G2350C	p.E784Q	VPEHQLTQEEEMEEGSLSWRVYHHY	VPEHQLTQEEEMQEGSLSWRVYHHY	2.0	10.0	-	-	3775_16:48230197-48230197 C>G_VPEHQLTQEEEMQEGSLSWRVYHHY
4:8237241-8237241 G>A	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	uc003gkw.4,p.D1046N|ENST00000539824,p.D1046N|NM_018986,p.D1122N|ENST00000245105,p.D1122N|uc003gkv.4,p.D1122N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon15	c.G3136A	p.D1046N	LELFEAAGDIFFDGAWEREKAVSFY	LELFEAAGDIFFNGAWEREKAVSFY	7.0	9.0	unscreened	-	3775_4:8237241-8237241 G>A_LELFEAAGDIFFNGAWEREKAVSFY
X:134427929-134427929 C>A	0.0	3775	CERVICAL	-	-	-	-	ZNF75D	uc022ceq.1,p.E46D|ENST00000370766,p.E46D|uc004eyo.3,p.E46D|ENST00000370764,p.E46D|NM_001185063,p.E46D|NM_007131,p.E46D	protein_coding, processed_transcript	uc022ceq.1	nonsynonymous SNV	exon2	c.G138T	p.E46D	KKYSTKIENLGPESACRHFWSFRYH	KKYSTKIENLGPDSACRHFWSFRYH	7.0	8.0	-	-	3775_X:134427929-134427929 C>A_KKYSTKIENLGPDSACRHFWSFRYH
20:62608740-62608740 G>C	0.0	3775	CERVICAL	-	-	-	-	SAMD10	ENST00000450107,p.F76L	protein_coding, processed_transcript	ENST00000450107	nonsynonymous SNV	exon3	c.C228G	p.F76L	PASPDSATAHFSFCRTLLEHTVSAE	PASPDSATAHFSLCRTLLEHTVSAE	5.0	4.0	-	-	3775_20:62608740-62608740 G>C_PASPDSATAHFSLCRTLLEHTVSAE
20:62608740-62608740 G>C	0.0	3775	CERVICAL	-	-	-	-	SAMD10	ENST00000369886,p.F37L|NM_080621,p.F37L|uc002yhm.2,p.F37L	protein_coding, processed_transcript	uc002yhm.2	nonsynonymous SNV	exon2	c.C111G	p.F37L	ERRDVDATAHFSFCRTLLEHTVSAE	ERRDVDATAHFSLCRTLLEHTVSAE	5.0	4.0	-	-	3775_20:62608740-62608740 G>C_ERRDVDATAHFSLCRTLLEHTVSAE
4:138450901-138450901 G>A	0.0	3775	CERVICAL	-	-	-	-	PCDH18	NM_001300828,p.S781L|uc003ihg.4,p.S561L|ENST00000412923,p.S781L|uc003ihe.4,p.S781L|ENST00000507846,p.S561L|NM_019035,p.S781L|ENST00000344876,p.S781L|uc003ihf.4,p.S774L	protein_coding	uc003ihg.4	nonsynonymous SNV	exon2	c.C1682T	p.S561L	LPIRSHHRSSPSSSPTLERGQMGSR	LPIRSHHRSSPSLSPTLERGQMGSR	6.0	3.0	unscreened	-	3775_4:138450901-138450901 G>A_LPIRSHHRSSPSLSPTLERGQMGSR
6:9908768-9908768 G>A	0.0	3775	CERVICAL	-	-	ID=COSM1329382;OCCURENCE=1(ovary)	-	LOC100506207,TFAP2A	ENST00000487015,p.T96M	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000487015	nonsynonymous SNV	exon3	c.C287T	p.T96M	LMDEEINPRQCATEVSREGFEIRRG	LMDEEINPRQCAMEVSREGFEIRRG	1.0	1.0	unscreened	-	3775_6:9908768-9908768 G>A_LMDEEINPRQCAMEVSREGFEIRRG
15:43010710-43010710 G>C	0.0	3775	CERVICAL	-	-	-	-	STARD9	NM_020759,p.E4614Q|uc010udj.2,p.E4614Q|ENST00000290607,p.E4614Q	retained_intron, protein_coding, nonsense_mediated_decay	uc010udj.2	nonsynonymous SNV	exon31	c.G13840C	p.E4614Q	PRDFCCVCVEAKEGHLSVMAAQSVY	PRDFCCVCVEAKQGHLSVMAAQSVY	5.0	10.0	unscreened	-	3775_15:43010710-43010710 G>C_PRDFCCVCVEAKQGHLSVMAAQSVY
10:38344973-38344973 G>A	1.0	3775	CERVICAL	-	-	ID=COSM1233912;OCCURENCE=1(large_intestine)	-	ZNF33A	uc010qev.2,p.E647K|uc031pun.1,p.E529K|uc031pul.1,p.E529K|NM_001278177,p.E662K|uc031puh.1,p.E529K|uc031puo.1,p.E659K|NM_006974,p.E640K|NM_001278173,p.E659K|uc021ppe.1,p.E641K|uc031pui.1,p.E662K|uc001izg.3,p.E641K|NM_001278174,p.E529K|uc031puj.1,p.E529K|ENST00000432900,p.E647K|ENST00000374618,p.E641K|NM_001278171,p.E529K|uc031puk.1,p.E563K|NM_001278179,p.E529K|ENST00000307441,p.E640K|NM_006954,p.E641K|NM_001278175,p.E563K|ENST00000458705,p.E640K|NM_001278176,p.E598K|uc001izh.3,p.E640K|uc031pum.1,p.E598K|NM_001278178,p.E529K|NM_001278170,p.E647K	protein_coding, processed_transcript, nonsense_mediated_decay	uc031puo.1	nonsynonymous SNV	exon6	c.G1975A	p.E659K	RIHIGEKPYKCNECGKAFCHKSALI	RIHIGEKPYKCNKCGKAFCHKSALI	8.0	7.0	-	-	3775_10:38344973-38344973 G>A_RIHIGEKPYKCNKCGKAFCHKSALI
4:8229975-8229981 CGGGATG>-	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	NM_018986,p.R852fs|uc003gkw.4,p.R776fs|uc003gkv.4,p.R852fs|ENST00000539824,p.R776fs|ENST00000245105,p.R852fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	frameshift deletion	exon12	c.2326_2332del	p.R776fs	QSPVALDILQSVRDAVVASEDQEGV	QSPVALDILQSVQWWPARTRRA	7.0	9.0	unscreened	-	3775_4:8229975-8229981 CGGGATG>-_QSPVALDILQSVQWWPARTRRA
21:34635338-34635338 G>C	1.0	3775	CERVICAL	-	-	-	-	IFNAR2	ENST00000382241,p.D361H|NM_001289125,p.D361H|ENST00000342136,p.D361H|NM_207585,p.D361H|uc002yrd.3,p.D361H|uc002yre.3,p.D361H	protein_coding, processed_transcript, nonsense_mediated_decay	uc002yre.3	nonsynonymous SNV	exon9	c.G1081C	p.D361H	QASATSTESQLIDPESEEEPDLPEV	QASATSTESQLIHPESEEEPDLPEV	9.0	7.0	-	-	3775_21:34635338-34635338 G>C_QASATSTESQLIHPESEEEPDLPEV
13:39265585-39265585 G>A	0.0	3775	CERVICAL	-	-	-	-	FREM2	ENST00000280481,p.M1368I|NM_207361,p.M1368I|uc001uwv.3,p.M1368I	protein_coding, processed_transcript	uc001uwv.3	nonsynonymous SNV	exon1	c.G4104A	p.M1368I	KPTGAFENITLGMNFTQDEVDRNLI	KPTGAFENITLGINFTQDEVDRNLI	1.0	9.0	-	-	3775_13:39265585-39265585 G>A_KPTGAFENITLGINFTQDEVDRNLI
5:78322369-78322369 C>G	0.0	3775	CERVICAL	-	-	-	-	DMGDH	ENST00000540686,p.D310H|uc011cte.1,p.D540H|uc011ctf.1,p.D489H|uc011ctg.1,p.D310H|ENST00000523732,p.D529H|uc003kfs.3,p.D690H|ENST00000380311,p.D489H|NM_013391,p.D690H|ENST00000255189,p.D690H	protein_coding, processed_transcript, nonsense_mediated_decay	uc011ctg.1	nonsynonymous SNV	exon8	c.G928C	p.D310H	GELGWELYHRREDSVALYDAIMNAG	GELGWELYHRREHSVALYDAIMNAG	3.0	7.0	-	-	3775_5:78322369-78322369 C>G_GELGWELYHRREHSVALYDAIMNAG
9:4661904-4661904 C>G	0.0	3775	CERVICAL	-	-	-	-	SPATA6L	ENST00000486047,p.E58Q|ENST00000454239,p.E58Q|ENST00000485616,p.E58Q|ENST00000406861,p.E58Q|ENST00000381890,p.E58Q|uc003zim.3,p.E58Q|ENST00000461761,p.E58Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zim.3	nonsynonymous SNV	exon2	c.G172C	p.E58Q	AFPIMIQESMRFEKVFESAVDPGAV	AFPIMIQESMRFQKVFESAVDPGAV	4.0	10.0	-	-	3775_9:4661904-4661904 C>G_AFPIMIQESMRFQKVFESAVDPGAV
1:158639344-158639344 G>A	0.0	3775	CERVICAL	-	-	-	-	SPTA1	NM_003126,p.R563W|uc001fst.1,p.R563W|ENST00000368147,p.R563W|ENST00000368148,p.R563W	protein_coding, processed_transcript	uc001fst.1	nonsynonymous SNV	exon14	c.C1687T	p.R563W	ENIKAIRDGLLARRDALREKAATRR	ENIKAIRDGLLAWRDALREKAATRR	1.0	8.0	-	-	3775_1:158639344-158639344 G>A_ENIKAIRDGLLAWRDALREKAATRR
19:33579085-33579085 G>C	1.0	3775	CERVICAL	-	-	-	-	GPATCH1	ENST00000170564,p.R40T|NM_018025,p.R40T|ENST00000592165,p.R40T|uc002nug.1,p.R40T	retained_intron, protein_coding, nonsense_mediated_decay	uc002nug.1	nonsynonymous SNV	exon2	c.G119C	p.R40T	PKKPIPLQDQTVRDEKGRYKRFHGA	PKKPIPLQDQTVTDEKGRYKRFHGA	6.0	3.0	unscreened	-	3775_19:33579085-33579085 G>C_PKKPIPLQDQTVTDEKGRYKRFHGA
10:115959005-115959005 G>A	0.0	3775	CERVICAL	-	-	-	-	TDRD1	uc001lbg.1,p.S153N|ENST00000369280,p.S153N|uc001lbf.3,p.S144N|ENST00000251864,p.S153N|ENST00000369282,p.S153N|ENST00000369281,p.S153N|uc001lbh.1,p.S144N|uc001lbi.1,p.S144N|NM_198795,p.S153N	protein_coding	uc001lbi.1	nonsynonymous SNV	exon4	c.G431A	p.S144N	KLNKLVENSLSISNPGLFTSLGPPL	KLNKLVENSLSINNPGLFTSLGPPL	1.0	2.0	unscreened	-	3775_10:115959005-115959005 G>A_KLNKLVENSLSINNPGLFTSLGPPL
10:696286-696286 A>T	0.0	3775	CERVICAL	-	-	-	-	PRR26	uc010qab.2,p.S42C|ENST00000441152,p.S42C	protein_coding	uc010qab.2	nonsynonymous SNV	exon2	c.A124T	p.S42C	RGCGPRQPTATASPRPGLWITPAHG	RGCGPRQPTATACPRPGLWITPAHG	1.0	10.0	unscreened	-	3775_10:696286-696286 A>T_RGCGPRQPTATACPRPGLWITPAHG
6:28964178-28964178 C>G	0.0	3775	CERVICAL	-	-	-	-	ZNF311	uc003nlu.2,p.E201Q|uc011dlk.1,p.E109Q|uc003nlv.2,p.E109Q|NM_001010877,p.E201Q|ENST00000377179,p.E201Q	protein_coding, processed_transcript	uc011dlk.1	nonsynonymous SNV	exon6	c.G325C	p.E109Q	VKLENQWETSIREKLREEKEGSEEV	VKLENQWETSIRQKLREEKEGSEEV	4.0	6.0	-	-	3775_6:28964178-28964178 C>G_VKLENQWETSIRQKLREEKEGSEEV
4:156764843-156764843 C>T	0.0	3775	CERVICAL	-	-	ID=COSM293046;OCCURENCE=3(large_intestine)	-	ASIC5	NM_017419,p.R284H|uc003ipe.1,p.R284H|ENST00000537611,p.R284H	protein_coding	uc003ipe.1	nonsynonymous SNV	exon5	c.G851A	p.R284H	LSPVGMHARVTIRQVKTVHQEYPWG	LSPVGMHARVTIHQVKTVHQEYPWG	1.0	9.0	-	-	3775_4:156764843-156764843 C>T_LSPVGMHARVTIHQVKTVHQEYPWG
22:51043118-51043118 C>T	0.0	3775	CERVICAL	-	-	-	-	MAPK8IP2	ENST00000329492,p.S463F|ENST00000399912,p.S198F|ENST00000008876,p.S169F|ENST00000399908,p.S198F	protein_coding	ENST00000399912	nonsynonymous SNV	exon5	c.C593T	p.S198F	APGRAARPGRACSAACSEEEDEEDD	APGRAARPGRACFAACSEEEDEEDD	3.0	9.0	unscreened	-	3775_22:51043118-51043118 C>T_APGRAARPGRACFAACSEEEDEEDD
1:233134004-233134004 C>G	0.0	3775	CERVICAL	-	-	-	-	PCNXL2	NM_014801,p.Q1928H|ENST00000344698,p.Q580H|ENST00000258229,p.Q1928H|uc001hvl.2,p.Q1928H|uc001hvk.1,p.Q580H|uc001hvm.2,p.Q407H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001hvm.2	nonsynonymous SNV	exon18	c.G1221C	p.Q407H	GAQHGVSSCEGTQRTGRRKGRSQSV	GAQHGVSSCEGTHRTGRRKGRSQSV	7.0	10.0	-	-	3775_1:233134004-233134004 C>G_GAQHGVSSCEGTHRTGRRKGRSQSV
10:38407283-38407283 C>G	1.0	3775	CERVICAL	-	-	-	-	ZNF37A	uc001izk.3,p.Q402E|NM_003421,p.Q402E|NM_001007094,p.Q402E|uc001izm.3,p.Q402E|ENST00000361085,p.Q402E|NM_001178101,p.Q402E|uc001izl.3,p.Q402E|ENST00000351773,p.Q402E	protein_coding, processed_transcript	uc001izm.3	nonsynonymous SNV	exon7	c.C1204G	p.Q402E	KAFLRKSDLIKHQRIHTGEKPYECN	KAFLRKSDLIKHERIHTGEKPYECN	7.0	10.0	-	-	3775_10:38407283-38407283 C>G_KAFLRKSDLIKHERIHTGEKPYECN
9:139701047-139701047 G>C	0.0	3775	CERVICAL	-	-	-	-	CCDC183	NM_001039374,p.E401Q|ENST00000338005,p.E401Q|uc004cjf.3,p.E401Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004cjf.3	nonsynonymous SNV	exon11	c.G1201C	p.E401Q	LQLAHSNMTKGQELLLTIQMGIDNL	LQLAHSNMTKGQQLLLTIQMGIDNL	5.0	10.0	-	-	3775_9:139701047-139701047 G>C_LQLAHSNMTKGQQLLLTIQMGIDNL
15:50190382-50190382 T>C	0.0	3775	CERVICAL	-	-	-	-	ATP8B4	ENST00000284509,p.I786V|uc010ber.3,p.I659V|ENST00000559829,p.I786V|uc010ufd.2,p.I596V|uc001zxv.1,p.I84V|uc001zxu.3,p.I786V|NM_024837,p.I786V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ufd.2	nonsynonymous SNV	exon22	c.A1786G	p.I596V	DLLELACMCKTVICCRVTPLQKAQV	DLLELACMCKTVVCCRVTPLQKAQV	6.0	2.0	unscreened	-	3775_15:50190382-50190382 T>C_DLLELACMCKTVVCCRVTPLQKAQV
6:9908768-9908768 G>A	0.0	3775	CERVICAL	-	-	ID=COSM1329382;OCCURENCE=1(ovary)	-	LOC100506207,TFAP2A	ENST00000491508,p.T177M|ENST00000316020,p.T177M|uc010joi.1,p.T177M	protein_coding, processed_transcript, nonsense_mediated_decay	uc010joi.1	nonsynonymous SNV	exon5	c.C530T	p.T177M	LMDEEINPRQCATEVSREDESGREE	LMDEEINPRQCAMEVSREDESGREE	1.0	1.0	unscreened	-	3775_6:9908768-9908768 G>A_LMDEEINPRQCAMEVSREDESGREE
3:50328039-50328039 C>T	0.0	3775	CERVICAL	-	-	-	-	IFRD2	uc003czb.3,p.A210T|uc011bdp.2,p.A108T|ENST00000429673,p.A108T|NM_006764,p.A108T|ENST00000336089,p.A210T|ENST00000436390,p.A44T|ENST00000417626,p.A44T|ENST00000414734,p.A44T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bdp.2	nonsynonymous SNV	exon2	c.G322A	p.A108T	SDDEAASEARSTASECPSLLSTTAE	SDDEAASEARSTTSECPSLLSTTAE	8.0	1.0	unscreened	-	3775_3:50328039-50328039 C>T_SDDEAASEARSTTSECPSLLSTTAE
4:8235152-8235152 A>G	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	ENST00000539824,p.K989R|NM_018986,p.K1065R|ENST00000245105,p.K1065R|uc003gkw.4,p.K989R|uc003gkv.4,p.K1065R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon14	c.A2966G	p.K989R	TKRSLGIFIDLQKKEKEAHAWLQAG	TKRSLGIFIDLQRKEKEAHAWLQAG	7.0	1.0	unscreened	-	3775_4:8235152-8235152 A>G_TKRSLGIFIDLQRKEKEAHAWLQAG
19:48305755-48305778 GAATGGGCCTGAGATTGGGCCTGG>-	0.0	3775	CERVICAL	-	-	-	-	TPRX1	uc002php.2,p.164_171del|NM_198479,p.164_171del	protein_coding	uc002php.2	nonframeshift deletion	exon2	c.490_513del	p.164_171del	PIPGPISGPAPIPGPISGPFSGPNP	PIPGPISGPAPISGPNPGPIPGPNP	1.0	10.0	unscreened	-	3775_19:48305755-48305778 GAATGGGCCTGAGATTGGGCCTGG>-_PIPGPISGPAPISGPNPGPIPGPNP
10:708805-708805 C>T	0.0	3775	CERVICAL	-	-	-	-	PRR26	uc001ifr.3,p.T167I|ENST00000381489,p.T167I	protein_coding	uc001ifr.3	nonsynonymous SNV	exon3	c.C500T	p.T167I	LRKEATPTASRTTLSSSLAPRGRGV	LRKEATPTASRTILSSSLAPRGRGV	1.0	3.0	unscreened	-	3775_10:708805-708805 C>T_LRKEATPTASRTILSSSLAPRGRGV
6:9908768-9908768 G>A	0.0	3775	CERVICAL	-	-	ID=COSM1329382;OCCURENCE=1(ovary)	-	LOC100506207,TFAP2A	uc010jog.1,p.T84M	protein_coding, processed_transcript, nonsense_mediated_decay	uc010jog.1	nonsynonymous SNV	exon3	c.C251T	p.T84M	LMDEEINPRQCATEVSREGAPSKEK	LMDEEINPRQCAMEVSREGAPSKEK	1.0	1.0	unscreened	-	3775_6:9908768-9908768 G>A_LMDEEINPRQCAMEVSREGAPSKEK
15:42105966-42105966 G>A	0.0	3775	CERVICAL	-	-	ID=COSM272155;OCCURENCE=1(large_intestine)	-	MAPKBP1	ENST00000456763,p.V329I|NM_001128608,p.V329I|uc001zok.4,p.V329I|NM_001265611,p.V323I|uc001zoj.4,p.V323I|uc010udb.2,p.V211I|ENST00000514566,p.V323I|ENST00000260357,p.V211I|ENST00000457542,p.V323I|uc010bci.3,p.V323I|NM_014994,p.V323I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010udb.2	nonsynonymous SNV	exon8	c.G631A	p.V211I	PRPHALGTDIASVTEASRLFSGVAN	PRPHALGTDIASITEASRLFSGVAN	6.0	2.0	unscreened	-	3775_15:42105966-42105966 G>A_PRPHALGTDIASITEASRLFSGVAN
4:8229262-8229264 AGA>-	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	ENST00000539824,p.538_539del|uc003gkw.4,p.538_539del|ENST00000245105,p.614_615del|uc003gkv.4,p.614_615del|NM_018986,p.614_615del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonframeshift deletion	exon12	c.1613_1615del	p.538_539del	AVYANLASIYRKQKNREKCAQVVPK	AVYANLASIYRKQNREKCAQVVPKA	7.0	9.0	unscreened	-	3775_4:8229262-8229264 AGA>-_AVYANLASIYRKQNREKCAQVVPKA
3:52443892-52443892 C>T	1.0	3775	CERVICAL	-	-	ID=COSM480297;OCCURENCE=1(skin),3(kidney)	1	BAP1	ENST00000460680,p.M1I|uc003ddx.4,p.M1I|NM_004656,p.M1I|ENST00000490917,p.M1I|ENST00000296288,p.M1I	retained_intron, protein_coding, nonsense_mediated_decay	uc003ddx.4	nonsynonymous SNV	exon1	c.G3A	p.M1I	MNKGWLELESDPG	INKGWLELESDPG	8.0	10.0	unscreened	-	3775_3:52443892-52443892 C>T_INKGWLELESDPG
12:70351673-70351673 G>A	0.0	3775	CERVICAL	-	-	-	-	RAB3IP,LINC01481	ENST00000547771,p.G829E|uc001svu.1,p.G206E|ENST00000552032,p.G841E|uc010stn.1,p.G181E|ENST00000535034,p.G181E|ENST00000299350,p.G206E	protein_coding, nonsense_mediated_decay	uc010stn.1	nonsynonymous SNV	exon7	c.G542A	p.G181E	FTLGNICFHSKRGTKGLESHREISQ	FTLGNICFHSKRETKGLESHREISQ	1.0	1.0	unscreened	-	3775_12:70351673-70351673 G>A_FTLGNICFHSKRETKGLESHREISQ
10:486911-486911 C>T	0.0	3775	CERVICAL	-	-	-	-	DIP2C	uc009xhk.1,p.R100Q	protein_coding	uc009xhk.1	nonsynonymous SNV	exon3	c.G299A	p.R100Q	AIGQTSTRKLSRRLWPNTKSGRWQC	AIGQTSTRKLSRQLWPNTKSGRWQC	6.0	5.0	unscreened	-	3775_10:486911-486911 C>T_AIGQTSTRKLSRQLWPNTKSGRWQC
X:26157208-26157208 G>C	0.0	3775	CERVICAL	-	-	ID=COSM3965072;OCCURENCE=1(lung)	-	MAGEB18	ENST00000325250,p.E36Q|uc022bub.1,p.E36Q	protein_coding	uc022bub.1	nonsynonymous SNV	exon1	c.G106C	p.E36Q	DLGATQATVAEGESPSPAYLLFGDR	DLGATQATVAEGQSPSPAYLLFGDR	1.0	7.0	-	-	3775_X:26157208-26157208 G>C_DLGATQATVAEGQSPSPAYLLFGDR
6:9908768-9908768 G>A	0.0	3775	CERVICAL	-	-	ID=COSM1329382;OCCURENCE=1(ovary)	-	LOC100506207,TFAP2A	ENST00000469426,p.T96M|uc011dig.1,p.T109M|uc011dif.1,p.T113M|uc003myn.3,p.T109M	protein_coding, processed_transcript, nonsense_mediated_decay	uc011dig.1	nonsynonymous SNV	exon4	c.C326T	p.T109M	LMDEEINPRQCATEVSREDDDRIFY	LMDEEINPRQCAMEVSREDDDRIFY	1.0	1.0	unscreened	-	3775_6:9908768-9908768 G>A_LMDEEINPRQCAMEVSREDDDRIFY
7:154667723-154667723 G>A	0.0	3775	CERVICAL	-	-	-	-	DPP6	NM_130797,p.G664D|ENST00000377770,p.G664D|uc011kvq.2,p.G557D|uc003wlk.3,p.G664D|NM_001936,p.G602D|NM_001039350,p.G600D|uc003wlm.3,p.G602D|NM_001290252,p.G557D|uc003wli.3,p.G600D|ENST00000427557,p.G557D|ENST00000404039,p.G600D|ENST00000332007,p.G602D	retained_intron, protein_coding, processed_transcript	uc011kvq.2	nonsynonymous SNV	exon18	c.G1670A	p.G557D	SHGAVVVKCDGRGSGFQGTKLLHEV	SHGAVVVKCDGRDSGFQGTKLLHEV	1.0	10.0	-	-	3775_7:154667723-154667723 G>A_SHGAVVVKCDGRDSGFQGTKLLHEV
1:247263685-247263685 C>A	0.0	3775	CERVICAL	-	-	-	-	ZNF669	uc001icf.2,p.W376C|NM_001142572,p.W376C|uc001ice.2,p.W462C|NM_024804,p.W462C|ENST00000448299,p.W376C|ENST00000343381,p.W462C	protein_coding	uc001icf.2	nonsynonymous SNV	exon4	c.G1128T	p.W376C	AYNPSTLGGQGVWIA	AYNPSTLGGQGVCIA	5.0	10.0	unscreened	-	3775_1:247263685-247263685 C>A_AYNPSTLGGQGVCIA
6:9908768-9908768 G>A	0.0	3775	CERVICAL	-	-	ID=COSM1329382;OCCURENCE=1(ovary)	-	LOC100506207,TFAP2A	uc003myj.1,p.T109M	protein_coding, processed_transcript, nonsense_mediated_decay	uc003myj.1	nonsynonymous SNV	exon4	c.C326T	p.T109M	LMDEEINPRQCATEVSREGSIPKKI	LMDEEINPRQCAMEVSREGSIPKKI	1.0	1.0	unscreened	-	3775_6:9908768-9908768 G>A_LMDEEINPRQCAMEVSREGSIPKKI
19:37252586-37252586 G>A	0.0	3775	CERVICAL	-	-	-	-	ZNF850	uc010efc.3,p.P65L|ENST00000589390,p.P65L|NM_001193552,p.P65L|ENST00000591344,p.P65L	protein_coding	uc010efc.3	nonsynonymous SNV	exon4	c.C194T	p.P65L	PDVISLLEQGKEPWMVSRDVLGGWC	PDVISLLEQGKELWMVSRDVLGGWC	3.0	7.0	unscreened	-	3775_19:37252586-37252586 G>A_PDVISLLEQGKELWMVSRDVLGGWC
1:247264100-247264100 T>C	0.0	3775	CERVICAL	-	-	-	-	ZNF669	uc001ice.2,p.H324R|NM_001142572,p.H238R|uc001icf.2,p.H238R|NM_024804,p.H324R|ENST00000448299,p.H238R|ENST00000343381,p.H324R	protein_coding	uc001icf.2	nonsynonymous SNV	exon4	c.A713G	p.H238R	GKTFRFSCSFKTHERTHTGERPYKC	GKTFRFSCSFKTRERTHTGERPYKC	5.0	1.0	unscreened	-	3775_1:247264100-247264100 T>C_GKTFRFSCSFKTRERTHTGERPYKC
1:247263690-247263690 C>T	0.0	3775	CERVICAL	-	-	-	-	ZNF669	uc001ice.2,p.V461M|ENST00000448299,p.V375M|uc001icf.2,p.V375M|NM_001142572,p.V375M|NM_024804,p.V461M|ENST00000343381,p.V461M	protein_coding	uc001icf.2	nonsynonymous SNV	exon4	c.G1123A	p.V375M	SAYNPSTLGGQGVWIA	SAYNPSTLGGQGMWIA	5.0	3.0	unscreened	-	3775_1:247263690-247263690 C>T_SAYNPSTLGGQGMWIA
10:3109788-3109788 A>T	0.0	3775	CERVICAL	-	-	-	-	PFKP	ENST00000381125,p.M1L|uc001igp.3,p.M1L|NM_002627,p.M1L	protein_coding, processed_transcript	uc001igp.3	nonsynonymous SNV	exon1	c.A1T	p.M1L	MDADDSRAPKGSL	LDADDSRAPKGSL	9.0	10.0	unscreened	-	3775_10:3109788-3109788 A>T_LDADDSRAPKGSL
10:696243-696243 T>C	0.0	3775	CERVICAL	-	-	-	-	PRR26	ENST00000381489,p.W65R|uc001ifr.3,p.W65R	protein_coding	uc001ifr.3	nonsynonymous SNV	exon1	c.T193C	p.W65R	TQHWMRFQGQGPWCPGLWTTPAHSH	TQHWMRFQGQGPRCPGLWTTPAHSH	1.0	10.0	unscreened	-	3775_10:696243-696243 T>C_TQHWMRFQGQGPRCPGLWTTPAHSH
19:19351423-19351423 G>A	0.0	3775	CERVICAL	-	-	-	-	NCAN	ENST00000538881,p.E592K|ENST00000252575,p.E1141K|NM_004386,p.E1141K|uc002nlz.3,p.E1141K	retained_intron, protein_coding	uc002nlz.3	nonsynonymous SNV	exon12	c.G3421A	p.E1141K	PEEHSFINSFGHENTWIGLNDRIVE	PEEHSFINSFGHKNTWIGLNDRIVE	1.0	9.0	-	-	3775_19:19351423-19351423 G>A_PEEHSFINSFGHKNTWIGLNDRIVE
10:486878-486878 T>C	0.0	3775	CERVICAL	-	-	-	-	DIP2C	uc009xhk.1,p.Q111R	protein_coding	uc009xhk.1	nonsynonymous SNV	exon3	c.A332G	p.Q111R	RRLWPNTKSGRWQCLCLPNAGPWSC	RRLWPNTKSGRWRCLCLPNAGPWSC	6.0	5.0	unscreened	-	3775_10:486878-486878 T>C_RRLWPNTKSGRWRCLCLPNAGPWSC
16:67694267-67694267 G>C	0.0	3775	CERVICAL	-	-	-	-	ACD	ENST00000393919,p.R39G|uc010vjt.1,p.R29G|uc002etr.4,p.R39G|ENST00000219251,p.R39G|NM_001082487,p.R39G|NM_022914,p.R39G|uc002etp.4,p.R39G|NM_001082486,p.R39G|uc002etq.4,p.R39G	protein_coding	uc010vjt.1	nonsynonymous SNV	exon1	c.C85G	p.R29G	GSLHTGPRAGRPRAQARGVRGRGLL	GSLHTGPRAGRPGAQARGVRGRGLL	6.0	10.0	-	-	3775_16:67694267-67694267 G>C_GSLHTGPRAGRPGAQARGVRGRGLL
1:247264066-247264074 TTTATAGGG>-	0.0	3775	CERVICAL	-	-	-	-	ZNF669	NM_001142572,p.247_249del|uc001ice.2,p.333_335del|NM_024804,p.333_335del|ENST00000343381,p.333_335del|uc001icf.2,p.247_249del|ENST00000448299,p.247_249del	protein_coding	uc001icf.2	nonframeshift deletion	exon4	c.739_747del	p.247_249del	FKTHERTHTGERPYKCTKCDKAFSC	FKTHERTHTGERCTKCDKAFSCSTS	5.0	1.0	unscreened	-	3775_1:247264066-247264074 TTTATAGGG>-_FKTHERTHTGERCTKCDKAFSCSTS
7:5401306-5401306 C>G	0.0	3775	CERVICAL	-	-	-	-	TNRC18	ENST00000430969,p.G1527A|NM_001080495,p.G1527A|ENST00000399537,p.G1527A|uc003soi.4,p.G1527A	retained_intron, protein_coding	uc003soi.4	nonsynonymous SNV	exon14	c.G4580C	p.G1527A	EEPHRSLARRGPGRPRKRTHAPSAL	EEPHRSLARRGPARPRKRTHAPSAL	8.0	9.0	-	-	3775_7:5401306-5401306 C>G_EEPHRSLARRGPARPRKRTHAPSAL
2:170058279-170058279 C>T	0.0	3775	CERVICAL	-	-	-	-	LRP2	NM_004525,p.D2771N|uc002ues.3,p.D2771N|ENST00000263816,p.D2771N	retained_intron, protein_coding, processed_transcript	uc002ues.3	nonsynonymous SNV	exon44	c.G8311A	p.D2771N	RCDYYNDCGDGSDEAGCLFRDCNAT	RCDYYNDCGDGSNEAGCLFRDCNAT	1.0	10.0	-	-	3775_2:170058279-170058279 C>T_RCDYYNDCGDGSNEAGCLFRDCNAT
11:46465134-46465134 C>G	0.0	3775	CERVICAL	-	-	-	-	AMBRA1	NM_001267782,p.D849H|ENST00000426438,p.D817H|ENST00000298834,p.D786H|uc001ncw.3,p.D727H|uc001ncx.3,p.D786H|uc009ylc.2,p.D817H|NM_001300731,p.D786H|NM_001267783,p.D727H|ENST00000458649,p.D846H|NM_017749,p.D756H|ENST00000533727,p.D727H|ENST00000314845,p.D756H|uc001ncu.2,p.D756H|ENST00000534300,p.D786H|ENST00000528950,p.D817H|uc010rgt.2,p.D412H|uc010rgu.2,p.D846H|uc001ncv.3,p.D849H	retained_intron, protein_coding, processed_transcript	uc010rgu.2	nonsynonymous SNV	exon12	c.G2536C	p.D846H	SVNRVLAGAVIGDGQSAVASNIANT	SVNRVLAGAVIGHGQSAVASNIANT	7.0	9.0	-	-	3775_11:46465134-46465134 C>G_SVNRVLAGAVIGHGQSAVASNIANT
7:114066626-114066626 G>A	0.0	3775	CERVICAL	-	-	-	-	FOXP2	NM_001172767,p.M20I|NM_148899,p.M20I|ENST00000350908,p.M20I|ENST00000378237,p.M20I|uc003vgw.3,p.M20I|ENST00000440349,p.M20I|NM_014491,p.M20I|uc011kmv.2,p.M20I|ENST00000412402,p.M20I|ENST00000390668,p.M19I|ENST00000462331,p.M20I|uc003vhb.3,p.M20I|NM_001172766,p.M20I|NM_148898,p.M20I|uc003vhc.3,p.M20I|NM_148900,p.M20I|ENST00000403559,p.M20I|uc003vhd.3,p.M20I|ENST00000360232,p.M20I|uc003vgz.3,p.M20I|uc003vgx.2,p.M20I|uc003vgv.1,p.M20I|ENST00000452963,p.M20I|ENST00000393498,p.M20I|ENST00000393495,p.M20I|ENST00000393494,p.M20I|ENST00000441290,p.M20I|ENST00000408937,p.M20I|uc011kmu.2,p.M20I	protein_coding, processed_transcript, nonsense_mediated_decay	uc011kmv.2	nonsynonymous SNV	exon2	c.G60A	p.M20I	ETISNSSMNQNGMSTLSSQLDAGSR	ETISNSSMNQNGISTLSSQLDAGSR	2.0	1.0	unscreened	-	3775_7:114066626-114066626 G>A_ETISNSSMNQNGISTLSSQLDAGSR
1:151079518-151079518 A>T	0.0	3775	CERVICAL	-	-	-	-	GABPB2	ENST00000368917,p.T210S|uc001ewt.2,p.T109S|ENST00000368916,p.T210S	protein_coding, processed_transcript	uc001ewt.2	nonsynonymous SNV	exon3	c.A325T	p.T109S	ISSTNTKTTSANTEEIIEGNSVDSS	ISSTNTKTTSANSEEIIEGNSVDSS	6.0	3.0	unscreened	-	3775_1:151079518-151079518 A>T_ISSTNTKTTSANSEEIIEGNSVDSS
1:151079518-151079518 A>T	0.0	3775	CERVICAL	-	-	-	-	GABPB2	uc001ewr.2,p.T248S|ENST00000368918,p.T248S|NM_144618,p.T248S	protein_coding, processed_transcript	uc001ewr.2	nonsynonymous SNV	exon7	c.A742T	p.T248S	VPLSNSHRATANTEEIIEGNSVDSS	VPLSNSHRATANSEEIIEGNSVDSS	6.0	3.0	unscreened	-	3775_1:151079518-151079518 A>T_VPLSNSHRATANSEEIIEGNSVDSS
6:22292837-22292837 T>C	0.0	3775	CERVICAL	-	-	-	-	PRL	uc003ndq.3,p.K81R|uc003ndp.3,p.K81R|NM_001163558,p.K81R|NM_000948,p.K81R|ENST00000306482,p.K81R|uc003ndo.3,p.K82R	protein_coding	uc003ndq.3	nonsynonymous SNV	exon4	c.A242G	p.K81R	DKRYTHGRGFITKAINSCHTSSLAT	DKRYTHGRGFITRAINSCHTSSLAT	1.0	1.0	unscreened	-	3775_6:22292837-22292837 T>C_DKRYTHGRGFITRAINSCHTSSLAT
10:35929838-35929838 C>T	0.0	3775	CERVICAL	-	-	-	-	FZD8	ENST00000374694,p.E174K|NM_031866,p.E174K|uc001iyz.1,p.E174K	protein_coding	uc001iyz.1	nonsynonymous SNV	exon1	c.G520A	p.E174K	SPPRRLPPPPPGEQPPSGSGHGRPP	SPPRRLPPPPPGKQPPSGSGHGRPP	5.0	10.0	unscreened	-	3775_10:35929838-35929838 C>T_SPPRRLPPPPPGKQPPSGSGHGRPP
2:241622047-241622047 C>G	0.0	3775	CERVICAL	-	-	-	-	AQP12B	ENST00000407834,p.D70H|uc010fzj.3,p.D70H|NM_001102467,p.D70H	protein_coding, processed_transcript, nonsense_mediated_decay	uc010fzj.3	nonsynonymous SNV	exon1	c.G208C	p.D70H	VELGPWAGDFGPDLLLTLLFLLFLA	VELGPWAGDFGPHLLLTLLFLLFLA	1.0	7.0	-	-	3775_2:241622047-241622047 C>G_VELGPWAGDFGPHLLLTLLFLLFLA
16:31478121-31478121 G>C	1.0	3775	CERVICAL	-	-	-	-	ARMC5	ENST00000408912,p.E1002Q|ENST00000268314,p.E907Q|NM_001301820,p.E939Q|ENST00000538189,p.E939Q|uc010vfo.2,p.E939Q|uc010vfp.2,p.E715Q|ENST00000412665,p.E551Q|NM_001105247,p.E907Q|ENST00000563544,p.E907Q|uc010vfn.2,p.E1002Q|uc002ecc.3,p.E907Q|NM_001288767,p.E1002Q	retained_intron, protein_coding, nonsense_mediated_decay	uc010vfp.2	nonsynonymous SNV	exon7	c.G2143C	p.E715Q	PRKRGLALVGLVEAAGEEAGPLTEA	PRKRGLALVGLVQAAGEEAGPLTEA	5.0	9.0	-	-	3775_16:31478121-31478121 G>C_PRKRGLALVGLVQAAGEEAGPLTEA
19:57088263-57088263 T>A	0.0	3775	CERVICAL	-	-	-	-	ZNF470	ENST00000330619,p.F156I|uc002qnl.4,p.F156I|ENST00000391709,p.F156I|NM_001001668,p.F156I	protein_coding, processed_transcript	uc002qnl.4	nonsynonymous SNV	exon6	c.T466A	p.F156I	LFERELVNQKTHFRQETITHIDTLI	LFERELVNQKTHIRQETITHIDTLI	3.0	8.0	-	-	3775_19:57088263-57088263 T>A_LFERELVNQKTHIRQETITHIDTLI
16:48230197-48230197 C>G	0.0	3775	CERVICAL	-	-	-	-	ABCC11	ENST00000537808,p.W751C	retained_intron, protein_coding, processed_transcript	ENST00000537808	nonsynonymous SNV	exon17	c.G2253C	p.W751C	SCRSISSHRRRRWKKAP	SCRSISSHRRRRCKKAP	2.0	10.0	-	-	3775_16:48230197-48230197 C>G_SCRSISSHRRRRCKKAP
4:8228752-8228752 A>C	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	uc003gkw.4,p.Q368P|ENST00000245105,p.Q444P|ENST00000539824,p.Q368P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon12	c.A1103C	p.Q368P	PPCLSLEPQETLQKVKNVLEQCKTC	PPCLSLEPQETLPKVKNVLEQCKTC	7.0	5.0	unscreened	-	3775_4:8228752-8228752 A>C_PPCLSLEPQETLPKVKNVLEQCKTC
9:90499553-90499553 T>A	0.0	3775	CERVICAL	-	-	-	-	SPATA31E1	uc004app.4,p.Y138N|ENST00000325643,p.Y138N|NM_178828,p.Y138N	protein_coding	uc004app.4	nonsynonymous SNV	exon3	c.T412A	p.Y138N	LLRELEETRDLNYLLESHLRKLAGE	LLRELEETRDLNNLLESHLRKLAGE	1.0	2.0	unscreened	-	3775_9:90499553-90499553 T>A_LLRELEETRDLNNLLESHLRKLAGE
4:8229079-8229079 C>G	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	ENST00000245105,p.A553G|ENST00000539824,p.A477G|NM_018986,p.A553G|uc003gkv.4,p.A553G|uc003gkw.4,p.A477G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon12	c.C1430G	p.A477G	GRLAQARGAAKKAGLLMALARLCFL	GRLAQARGAAKKGGLLMALARLCFL	7.0	4.0	unscreened	-	3775_4:8229079-8229079 C>G_GRLAQARGAAKKGGLLMALARLCFL
4:8229379-8229379 G>A	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	NM_018986,p.R653Q|uc003gkv.4,p.R653Q|ENST00000245105,p.R653Q|ENST00000539824,p.R577Q|uc003gkw.4,p.R577Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon12	c.G1730A	p.R577Q	TEAEGELLQLALRRAVGGQSLQAEA	TEAEGELLQLALQRAVGGQSLQAEA	7.0	4.0	unscreened	-	3775_4:8229379-8229379 G>A_TEAEGELLQLALQRAVGGQSLQAEA
10:105793790-105793790 C>T	0.0	3775	CERVICAL	-	-	-	-	COL17A1	ENST00000369733,p.A1275T|NM_000494,p.A1357T|uc001kxr.3,p.A1357T|ENST00000353479,p.A1357T	retained_intron, protein_coding, processed_transcript	uc001kxr.3	nonsynonymous SNV	exon52	c.G4069A	p.A1357T	GGYGAAAEGGMYAGNGGLLGADFAG	GGYGAAAEGGMYTGNGGLLGADFAG	1.0	4.0	-	-	3775_10:105793790-105793790 C>T_GGYGAAAEGGMYTGNGGLLGADFAG
7:150501919-150501919 G>C	0.0	3775	CERVICAL	-	-	-	-	TMEM176A	ENST00000004103,p.R224T|NM_018487,p.R224T|uc003whx.1,p.R224T|ENST00000484928,p.R224T|ENST00000461345,p.R165T	retained_intron, protein_coding	uc003whx.1	nonsynonymous SNV	exon7	c.G671C	p.R224T	LYCWRMFPTKGKRDQKEMLEVSGI	LYCWRMFPTKGKTDQKEMLEVSGI	10.0	7.0	-	-	3775_7:150501919-150501919 G>C_LYCWRMFPTKGKTDQKEMLEVSGI
4:8228752-8228752 A>C	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	uc003gkv.4,p.Q444P|NM_018986,p.Q444P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkv.4	nonsynonymous SNV	exon12	c.A1331C	p.Q444P	PPCLSPEPQETLQKVKNVLEQCKTC	PPCLSPEPQETLPKVKNVLEQCKTC	7.0	5.0	unscreened	-	3775_4:8228752-8228752 A>C_PPCLSPEPQETLPKVKNVLEQCKTC
6:7373734-7373734 C>G	0.0	3775	CERVICAL	-	-	-	-	CAGE1	ENST00000458291,p.E440Q|ENST00000512086,p.E440Q|ENST00000296742,p.E304Q|NM_001170692,p.E440Q|uc003mxl.2,p.E440Q|uc003mxk.2,p.E440Q|uc021ylc.1,p.E304Q|NM_205864,p.E304Q|ENST00000338150,p.E440Q|uc003mxj.3,p.E195Q|ENST00000379918,p.E440Q|ENST00000502583,p.E440Q|NM_001170693,p.E440Q|ENST00000512691,p.E452Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc021ylc.1	nonsynonymous SNV	exon4	c.G910C	p.E304Q	MQQKNKSVSQYLEMDKTLSKKEEEV	MQQKNKSVSQYLQMDKTLSKKEEEV	1.0	10.0	-	-	3775_6:7373734-7373734 C>G_MQQKNKSVSQYLQMDKTLSKKEEEV
21:22658702-22658702 C>G	0.0	3775	CERVICAL	-	-	-	-	NCAM2	ENST00000400546,p.H151D|uc002yld.2,p.H151D|uc011acc.2,p.H176D|NM_004540,p.H151D|ENST00000535285,p.H176D	protein_coding, processed_transcript	uc011acc.2	nonsynonymous SNV	exon5	c.C526G	p.H176D	SSSPAPAVSWLYHNEEVTTISDNRF	SSSPAPAVSWLYDNEEVTTISDNRF	4.0	6.0	-	-	3775_21:22658702-22658702 C>G_SSSPAPAVSWLYDNEEVTTISDNRF
15:23686292-23686292 C>G	0.0	3775	CERVICAL	-	-	-	-	GOLGA8S,MIR4508	uc021sfy.1,p.E432Q|ENST00000345070,p.E171Q|ENST00000567107,p.E444Q|ENST00000312015,p.E444Q	protein_coding, nonsense_mediated_decay	uc021sfy.1	nonsynonymous SNV	exon8	c.G1294C	p.E432Q	MQEQEKKTRDQEEKMQEEERIRERE	MQEQEKKTRDQEQKMQEEERIRERE	1.0	10.0	unscreened	-	3775_15:23686292-23686292 C>G_MQEQEKKTRDQEQKMQEEERIRERE
17:5042858-5042858 A>G	0.0	3775	CERVICAL	-	-	-	1	USP6	ENST00000572949,p.I463V|uc002gav.1,p.I463V|ENST00000574788,p.I463V|uc010ckz.1,p.I146V|ENST00000332776,p.I463V|uc002gau.1,p.I463V|ENST00000250066,p.I463V|NM_004505,p.I463V|ENST00000304328,p.I146V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ckz.1	nonsynonymous SNV	exon15	c.A436G	p.I146V	WKSMPRLPTDLDIGGPWFPHYDFEW	WKSMPRLPTDLDVGGPWFPHYDFEW	4.0	3.0	unscreened	-	3775_17:5042858-5042858 A>G_WKSMPRLPTDLDVGGPWFPHYDFEW
12:97038026-97038026 A>G	0.0	3775	CERVICAL	-	-	-	-	CDK17,NEDD1	uc001tes.3,p.S137G	retained_intron, protein_coding, processed_transcript	uc001tes.3	nonsynonymous SNV	exon6	c.A409G	p.S137G	RYLMDYLNPLILSYVKRKRFHRLSL	RYLMDYLNPLILGYVKRKRFHRLSL	3.0	3.0	unscreened	-	3775_12:97038026-97038026 A>G_RYLMDYLNPLILGYVKRKRFHRLSL
19:56544952-56544952 G>A	0.0	3775	CERVICAL	-	-	-	-	NLRP5	NM_153447,p.R831K|uc002qmj.3,p.R831K|uc002qmi.3,p.R812K|ENST00000390649,p.R831K	protein_coding, nonsense_mediated_decay	uc002qmj.3	nonsynonymous SNV	exon9	c.G2492A	p.R831K	NAQITPGVQHLWRIVMANRNLRSLN	NAQITPGVQHLWKIVMANRNLRSLN	1.0	9.0	-	-	3775_19:56544952-56544952 G>A_NAQITPGVQHLWKIVMANRNLRSLN
1:94471011-94471011 C>T	0.0	3775	CERVICAL	-	-	-	-	ABCA4	uc001dqh.3,p.E2045K|NM_000350,p.E2045K|uc001dqi.1,p.E164K|ENST00000536513,p.E315K|ENST00000535881,p.E164K|ENST00000370225,p.E2045K	protein_coding, processed_transcript	uc001dqi.1	nonsynonymous SNV	exon5	c.G490A	p.E164K	LYLYARLRGVPAEEIEKVANWSIKS	LYLYARLRGVPAKEIEKVANWSIKS	1.0	5.0	-	-	3775_1:94471011-94471011 C>T_LYLYARLRGVPAKEIEKVANWSIKS
3:47129664-47129664 G>C	0.0	3775	CERVICAL	-	-	-	1	SETD2	ENST00000409792,p.S1739C|NM_014159,p.S1739C|uc003cqv.3,p.S1806C|uc003cqs.3,p.S1739C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003cqv.3	nonsynonymous SNV	exon11	c.C5417G	p.S1806C	EGLSDKNQVLSLSRLMVRIETLEQK	EGLSDKNQVLSLCRLMVRIETLEQK	7.0	4.0	unscreened	-	3775_3:47129664-47129664 G>C_EGLSDKNQVLSLCRLMVRIETLEQK
1:108023387-108023387 C>T	0.0	3775	CERVICAL	-	-	-	-	NTNG1	uc009wem.3,p.R78C	protein_coding, processed_transcript	uc009wem.3	nonsynonymous SNV	exon2	c.C232T	p.R78C	GGWQLRLRLWPGRAPARLPSAAAAD	GGWQLRLRLWPGCAPARLPSAAAAD	2.0	3.0	unscreened	-	3775_1:108023387-108023387 C>T_GGWQLRLRLWPGCAPARLPSAAAAD
14:39649982-39649982 G>A	1.0	3775	CERVICAL	-	-	-	-	PNN	uc001wuw.4,p.E357K|NM_002687,p.E357K|ENST00000216832,p.E357K	retained_intron, protein_coding, processed_transcript	uc001wuw.4	nonsynonymous SNV	exon9	c.G1069A	p.E357K	VHSDAEKEQEEEEQKQEMEVKMEEE	VHSDAEKEQEEEKQKQEMEVKMEEE	10.0	8.0	-	-	3775_14:39649982-39649982 G>A_VHSDAEKEQEEEKQKQEMEVKMEEE
2:179431456-179431456 C>G	0.0	3775	CERVICAL	-	-	-	-	TTN	NM_003319,p.G17403A|uc031rqc.1,p.G26468A|NM_133432,p.G17528A|ENST00000591111,p.G24827A|ENST00000460472,p.G17403A|uc021vta.2,p.G17528A|ENST00000359218,p.G17528A|NM_133437,p.G17595A|ENST00000342992,p.G23900A|uc021vsz.2,p.G17595A|ENST00000342175,p.G17595A|uc021vtb.2,p.G17403A|uc031rqd.1,p.G24827A|NM_133378,p.G23900A|uc021vsy.2,p.G23900A|NM_001256850,p.G24827A|NM_001267550,p.G26468A|ENST00000589042,p.G26468A	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon276	c.G74480C	p.G24827A	EYEFRVSAENAAGVGEPSPATVYYK	EYEFRVSAENAAAVGEPSPATVYYK	2.0	7.0	unscreened	-	3775_2:179431456-179431456 C>G_EYEFRVSAENAAAVGEPSPATVYYK
14:39650024-39650024 G>A	1.0	3775	CERVICAL	-	-	-	-	PNN	ENST00000216832,p.E371K|uc001wuw.4,p.E371K|NM_002687,p.E371K	retained_intron, protein_coding, processed_transcript	uc001wuw.4	nonsynonymous SNV	exon9	c.G1111A	p.E371K	KQEMEVKMEEETEVRESEKQQDSQP	KQEMEVKMEEETKVRESEKQQDSQP	10.0	8.0	-	-	3775_14:39650024-39650024 G>A_KQEMEVKMEEETKVRESEKQQDSQP
1:247263806-247263806 T>C	0.0	3775	CERVICAL	-	-	-	-	ZNF669	NM_024804,p.K422R|ENST00000448299,p.K336R|NM_001142572,p.K336R|uc001ice.2,p.K422R|ENST00000343381,p.K422R|uc001icf.2,p.K336R	protein_coding	uc001icf.2	nonsynonymous SNV	exon4	c.A1007G	p.K336R	RIHTGEKPYECKKCGKAYTRSSHLT	RIHTGEKPYECKRCGKAYTRSSHLT	5.0	9.0	unscreened	-	3775_1:247263806-247263806 T>C_RIHTGEKPYECKRCGKAYTRSSHLT
13:73539483-73539483 G>C	0.0	3775	CERVICAL	-	-	-	-	PIBF1	ENST00000326291,p.Q635H|uc010aep.3,p.Q94H|uc001vjb.3,p.Q635H|NM_006346,p.Q635H|uc001vjc.3,p.Q635H	protein_coding, processed_transcript	uc010aep.3	nonsynonymous SNV	exon6	c.G282C	p.Q94H	QQPYRYLIESVRQRDSKIDSLTESI	QQPYRYLIESVRHRDSKIDSLTESI	7.0	2.0	-	-	3775_13:73539483-73539483 G>C_QQPYRYLIESVRHRDSKIDSLTESI
4:8229688-8229688 C>T	0.0	3775	CERVICAL	-	-	ID=COSM138425;OCCURENCE=1(skin)	-	SH3TC1	uc003gkw.4,p.P680L|uc003gkv.4,p.P756L|ENST00000539824,p.P680L|NM_018986,p.P756L|ENST00000245105,p.P756L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon12	c.C2039T	p.P680L	SLRSVNLVLQNAPQPHSLPAQTSHY	SLRSVNLVLQNALQPHSLPAQTSHY	7.0	4.0	unscreened	-	3775_4:8229688-8229688 C>T_SLRSVNLVLQNALQPHSLPAQTSHY
16:58550158-58550158 G>C	0.0	3775	CERVICAL	-	-	-	-	SETD6	ENST00000447443,p.C57S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000447443	nonsynonymous SNV	exon3	c.G170C	p.C57S	RASRAGCHCCWRCSTSCRPRPHAGG	RASRAGCHCCWRSSTSCRPRPHAGG	8.0	1.0	unscreened	-	3775_16:58550158-58550158 G>C_RASRAGCHCCWRSSTSCRPRPHAGG
2:220494796-220494796 C>T	0.0	3775	CERVICAL	-	-	-	-	SLC4A3	uc002vmn.2,p.P205L|ENST00000373762,p.P205L|NM_201574,p.P205L|ENST00000273063,p.P205L|uc002vmo.4,p.P205L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002vmo.4	nonsynonymous SNV	exon6	c.C614T	p.P205L	PHTDKSPQHSSRPCSELRDGDGTTD	PHTDKSPQHSSRLCSELRDGDGTTD	3.0	9.0	-	-	3775_2:220494796-220494796 C>T_PHTDKSPQHSSRLCSELRDGDGTTD
15:43585817-43585817 C>T	0.0	3775	CERVICAL	-	-	-	-	TGM7	NM_052955,p.R8Q|ENST00000452443,p.R8Q|uc001zrf.1,p.R8Q	retained_intron, protein_coding	uc001zrf.1	nonsynonymous SNV	exon2	c.G23A	p.R8Q	MDQVATLRLESVDLQSSRNN	MDQVATLQLESVDLQSSRNN	1.0	2.0	unscreened	-	3775_15:43585817-43585817 C>T_MDQVATLQLESVDLQSSRNN
1:207073693-207073693 G>A	0.0	3775	CERVICAL	-	-	-	-	IL24	ENST00000367095,p.R33K	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000367095	nonsynonymous SNV	exon3	c.G98A	p.R33K	SRVPGCCSRRFCRTSRMLRAVTLST	SRVPGCCSRRFCKTSRMLRAVTLST	4.0	4.0	unscreened	-	3775_1:207073693-207073693 G>A_SRVPGCCSRRFCKTSRMLRAVTLST
3:50284503-50284503 G>A	0.0	3775	CERVICAL	-	-	-	-	GNAI2	uc011bdn.2,p.M1I|ENST00000451956,p.M1I|NM_001166425,p.M1I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bdn.2	nonsynonymous SNV	exon1	c.G3A	p.M1I	MRGAGESGKSTIV	IRGAGESGKSTIV	10.0	1.0	unscreened	-	3775_3:50284503-50284503 G>A_IRGAGESGKSTIV
1:208061189-208061189 C>T	0.0	3775	CERVICAL	-	-	-	-	CD34	ENST00000367036,p.G193E|uc010psj.1,p.G216E|NM_001025109,p.G351E|uc001hgv.1,p.G193E|ENST00000537704,p.G216E|ENST00000310833,p.G351E|uc001hgw.1,p.G351E	protein_coding, processed_transcript	uc010psj.1	nonsynonymous SNV	exon7	c.G647A	p.G216E	YSSGPGTSPEAQGKASVNRGAQENG	YSSGPGTSPEAQEKASVNRGAQENG	8.0	7.0	-	-	3775_1:208061189-208061189 C>T_YSSGPGTSPEAQEKASVNRGAQENG
10:18250629-18250629 G>C	0.0	3775	CERVICAL	-	-	-	-	SLC39A12	uc001ipo.2,p.E127D|uc001ipn.2,p.E127D|ENST00000377371,p.E127D|NM_001282733,p.E127D|uc001ipp.2,p.E127D|NM_001145195,p.E127D|NM_152725,p.E127D|ENST00000377374,p.E127D|ENST00000377369,p.E127D	protein_coding	uc001ipp.2	nonsynonymous SNV	exon3	c.G381C	p.E127D	SLLLLYYIIHQEEICSSKLNMSNKE	SLLLLYYIIHQEDICSSKLNMSNKE	1.0	5.0	-	-	3775_10:18250629-18250629 G>C_SLLLLYYIIHQEDICSSKLNMSNKE
10:696275-696275 C>A	0.0	3775	CERVICAL	-	-	-	-	PRR26	ENST00000441152,p.T38K|uc010qab.2,p.T38K	protein_coding	uc010qab.2	nonsynonymous SNV	exon2	c.C113A	p.T38K	DHGARGCGPRQPTATASPRPGLWIT	DHGARGCGPRQPKATASPRPGLWIT	1.0	9.0	unscreened	-	3775_10:696275-696275 C>A_DHGARGCGPRQPKATASPRPGLWIT
15:42105966-42105966 G>A	0.0	3775	CERVICAL	-	-	ID=COSM272155;OCCURENCE=1(large_intestine)	-	MAPKBP1	ENST00000512970,p.V323I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000512970	nonsynonymous SNV	exon9	c.G967A	p.V323I	PRPHALGTDIASVTEARSTPR	PRPHALGTDIASITEARSTPR	6.0	2.0	unscreened	-	3775_15:42105966-42105966 G>A_PRPHALGTDIASITEARSTPR
1:247264167-247264167 C>T	0.0	3775	CERVICAL	-	-	-	-	ZNF669	ENST00000448299,p.G216R|uc001ice.2,p.G302R|uc001icf.2,p.G216R|ENST00000343381,p.G302R|NM_001142572,p.G216R|NM_024804,p.G302R	protein_coding	uc001icf.2	nonsynonymous SNV	exon4	c.G646A	p.G216R	SGSCLIHERTHTGEKPYECKECGKT	SGSCLIHERTHTREKPYECKECGKT	5.0	1.0	unscreened	-	3775_1:247264167-247264167 C>T_SGSCLIHERTHTREKPYECKECGKT
X:26157208-26157208 G>C	0.0	3775	CERVICAL	-	-	ID=COSM3965072;OCCURENCE=1(lung)	-	MAGEB18	uc004dbq.2,p.E36Q|NM_173699,p.E36Q	protein_coding	uc004dbq.2	nonsynonymous SNV	exon2	c.G106C	p.E36Q	DLGATQATVAEGESPSSAYLLFGDR	DLGATQATVAEGQSPSSAYLLFGDR	1.0	7.0	-	-	3775_X:26157208-26157208 G>C_DLGATQATVAEGQSPSSAYLLFGDR
6:26158610-26158610 C>G	0.0	3775	CERVICAL	-	-	-	-	HIST1H2BD	NM_138720,p.F71L|ENST00000377777,p.F71L|ENST00000289316,p.F71L|NM_021063,p.F71L|uc003ngr.3,p.F71L|uc003ngs.3,p.F71L	protein_coding	uc003ngs.3	nonsynonymous SNV	exon1	c.C213G	p.F71L	AMGIMNSFVNDIFERIAGEASRLAH	AMGIMNSFVNDILERIAGEASRLAH	5.0	7.0	unscreened	-	3775_6:26158610-26158610 C>G_AMGIMNSFVNDILERIAGEASRLAH
14:39650252-39650252 G>A	1.0	3775	CERVICAL	-	-	-	-	PNN	NM_002687,p.E447K|uc001wuw.4,p.E447K	retained_intron, protein_coding, processed_transcript	uc001wuw.4	nonsynonymous SNV	exon9	c.G1339A	p.E447K	PDKECKSLSPGKENVSALDMEKESE	PDKECKSLSPGKKNVSALDMEKESE	10.0	7.0	-	-	3775_14:39650252-39650252 G>A_PDKECKSLSPGKKNVSALDMEKESE
14:39650252-39650252 G>A	1.0	3775	CERVICAL	-	-	-	-	PNN	ENST00000216832,p.E447K	retained_intron, protein_coding, processed_transcript	ENST00000216832	nonsynonymous SNV	exon9	c.G1339A	p.E447K	PDKECKTLSPGKENVSALDMEKESE	PDKECKTLSPGKKNVSALDMEKESE	10.0	7.0	-	-	3775_14:39650252-39650252 G>A_PDKECKTLSPGKKNVSALDMEKESE
1:247264383-247264383 A>G	0.0	3775	CERVICAL	-	-	-	-	ZNF669	NM_024804,p.F230L|uc001ice.2,p.F230L|ENST00000343381,p.F230L|uc001icf.2,p.F144L|ENST00000448299,p.F144L|NM_001142572,p.F144L	protein_coding	uc001icf.2	nonsynonymous SNV	exon4	c.T430C	p.F144L	GEKQYKCEQCGKFFVSVPGVRRHMI	GEKQYKCEQCGKLFVSVPGVRRHMI	5.0	5.0	unscreened	-	3775_1:247264383-247264383 A>G_GEKQYKCEQCGKLFVSVPGVRRHMI
20:2312918-2312918 G>C	0.0	3775	CERVICAL	-	-	-	-	TGM3	NM_003245,p.W535S|ENST00000381458,p.W535S|uc002wfx.4,p.W535S	protein_coding, processed_transcript	uc002wfx.4	nonsynonymous SNV	exon10	c.G1604C	p.W535S	TIIYNGTLVHEVWKDSATMSLDPEE	TIIYNGTLVHEVSKDSATMSLDPEE	1.0	5.0	-	-	3775_20:2312918-2312918 G>C_TIIYNGTLVHEVSKDSATMSLDPEE
1:62976259-62976259 C>G	0.0	3775	CERVICAL	-	-	-	-	DOCK7	uc001dan.4,p.E1416D|NM_001272000,p.E1416D|uc010oov.1,p.E186D|uc001dam.3,p.E627D|ENST00000251157,p.E1447D|uc001daq.4,p.E1447D|uc001dap.4,p.E1425D|NM_001271999,p.E1447D|ENST00000340370,p.E1425D|uc001dao.4,p.E1416D|NM_001272001,p.E1416D|NM_033407,p.E1425D	protein_coding, processed_transcript	uc010oov.1	nonsynonymous SNV	exon5	c.G558C	p.E186D	WRKDMTHWRQNTEKLDKSRAEIEHE	WRKDMTHWRQNTDKLDKSRAEIEHE	6.0	9.0	-	-	3775_1:62976259-62976259 C>G_WRKDMTHWRQNTDKLDKSRAEIEHE
6:155728284-155728284 C>G	0.0	3775	CERVICAL	-	-	-	-	NOX3	ENST00000159060,p.Q520H|uc003qqm.3,p.Q520H|NM_015718,p.Q520H	protein_coding	uc003qqm.3	nonsynonymous SNV	exon12	c.G1560C	p.Q520H	FYGRPNWNNEFKQIAYNHPSSSIGV	FYGRPNWNNEFKHIAYNHPSSSIGV	1.0	9.0	-	-	3775_6:155728284-155728284 C>G_FYGRPNWNNEFKHIAYNHPSSSIGV
16:30904242-30904242 C>T	0.0	3775	CERVICAL	-	-	-	-	BCL7C	ENST00000215115,p.E67K|uc021tgq.1,p.E67K|ENST00000380317,p.E67K|uc002dzv.3,p.E67K|NM_004765,p.E67K|NM_001286526,p.E67K	protein_coding, processed_transcript, nonsense_mediated_decay	uc021tgq.1	nonsynonymous SNV	exon3	c.G199A	p.E67K	QEEERRRAGGGAERSRGRERRGRGA	QEEERRRAGGGAKRSRGRERRGRGA	8.0	2.0	unscreened	-	3775_16:30904242-30904242 C>T_QEEERRRAGGGAKRSRGRERRGRGA
4:8229976-8229976 G>A	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	ENST00000539824,p.R776Q|uc003gkv.4,p.R852Q|ENST00000245105,p.R852Q|NM_018986,p.R852Q|uc003gkw.4,p.R776Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon12	c.G2327A	p.R776Q	QSPVALDILQSVRDAVVASEDQEGV	QSPVALDILQSVQDAVVASEDQEGV	7.0	3.0	unscreened	-	3775_4:8229976-8229976 G>A_QSPVALDILQSVQDAVVASEDQEGV
2:179431472-179431472 C>T	0.0	3775	CERVICAL	-	-	-	-	TTN	uc021vta.2,p.A17523T|NM_001256850,p.A24822T|ENST00000342992,p.A23895T|uc031rqc.1,p.A26463T|ENST00000591111,p.A24822T|uc021vtb.2,p.A17398T|uc031rqd.1,p.A24822T|uc021vsz.2,p.A17590T|NM_133437,p.A17590T|uc021vsy.2,p.A23895T|ENST00000589042,p.A26463T|ENST00000460472,p.A17398T|ENST00000359218,p.A17523T|NM_133378,p.A23895T|NM_001267550,p.A26463T|NM_003319,p.A17398T|ENST00000342175,p.A17590T|NM_133432,p.A17523T	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon276	c.G74464A	p.A24822T	LTEDHEYEFRVSAENAAGVGEPSPA	LTEDHEYEFRVSTENAAGVGEPSPA	2.0	8.0	-	-	3775_2:179431472-179431472 C>T_LTEDHEYEFRVSTENAAGVGEPSPA
1:156236042-156236042 C>T	1.0	3775	CERVICAL	0.0005	-	-	-	SMG5	uc001foc.4,p.R462H|NM_015327,p.R462H|ENST00000361813,p.R462H	protein_coding, processed_transcript	uc001foc.4	nonsynonymous SNV	exon12	c.G1385A	p.R462H	SRKFSRLSCLRRRRHPPKVGDDSDL	SRKFSRLSCLRRHRHPPKVGDDSDL	9.0	8.0	-	-	3775_1:156236042-156236042 C>T_SRKFSRLSCLRRHRHPPKVGDDSDL
10:696275-696275 C>A	0.0	3775	CERVICAL	-	-	-	-	PRR26	uc001ifr.3,p.H75Q|ENST00000381489,p.H75Q	protein_coding	uc001ifr.3	nonsynonymous SNV	exon1	c.C225A	p.H75Q	GPWCPGLWTTPAHSHCKPQTGAVDN	GPWCPGLWTTPAQSHCKPQTGAVDN	1.0	9.0	unscreened	-	3775_10:696275-696275 C>A_GPWCPGLWTTPAQSHCKPQTGAVDN
8:117869614-117869614 C>G	1.0	3775	CERVICAL	-	-	-	1	RAD21	ENST00000517485,p.E194Q|ENST00000520992,p.E194Q|NM_006265,p.E194Q|uc003yod.3,p.E194Q|ENST00000297338,p.E194Q	retained_intron, protein_coding, processed_transcript	uc003yod.3	nonsynonymous SNV	exon6	c.G580C	p.E194Q	MLVSTTTSNLLLESEQSTSNLNEKI	MLVSTTTSNLLLQSEQSTSNLNEKI	10.0	7.0	-	-	3775_8:117869614-117869614 C>G_MLVSTTTSNLLLQSEQSTSNLNEKI
4:8229328-8229328 A>G	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	ENST00000245105,p.D636G|NM_018986,p.D636G|uc003gkv.4,p.D636G|uc003gkw.4,p.D560G|ENST00000539824,p.D560G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon12	c.A1679G	p.D560G	VPKAMALLLGTPDHICSTEAEGELL	VPKAMALLLGTPGHICSTEAEGELL	7.0	8.0	unscreened	-	3775_4:8229328-8229328 A>G_VPKAMALLLGTPGHICSTEAEGELL
5:180424335-180424335 G>C	0.0	3775	CERVICAL	-	-	-	-	BTNL3	ENST00000342868,p.D174H|uc003mmr.3,p.D174H|NM_197975,p.D174H	protein_coding	uc003mmr.3	nonsynonymous SNV	exon3	c.G520C	p.D174H	QPTAKWKGPQGQDLSSDSRANADGY	QPTAKWKGPQGQHLSSDSRANADGY	1.0	1.0	unscreened	-	3775_5:180424335-180424335 G>C_QPTAKWKGPQGQHLSSDSRANADGY
16:30128162-30128162 G>T	0.0	3775	CERVICAL	-	-	-	-	MAPK3	ENST00000403394,p.T357K|NM_001040056,p.T357K|ENST00000395199,p.T357K|uc002dwt.3,p.T357K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dwt.3	nonsynonymous SNV	exon7	c.C1070A	p.T357K	AAVGLGAGEQGGT	AAVGLGAGEQGGK	9.0	1.0	unscreened	-	3775_16:30128162-30128162 G>T_AAVGLGAGEQGGK
5:140223200-140223200 C>T	0.0	3775	CERVICAL	-	-	-	-	PCDHA8	NM_031856,p.P765L|uc003lhr.1,p.P765L|uc003lhs.2,p.P765L|ENST00000531613,p.P765L|NM_018911,p.P765L|ENST00000378123,p.P765L	protein_coding	uc003lhs.2	nonsynonymous SNV	exon1	c.C2294T	p.P765L	QQPQRVCSGEGPPKTDLMAFSPCLP	QQPQRVCSGEGPLKTDLMAFSPCLP	1.0	3.0	unscreened	-	3775_5:140223200-140223200 C>T_QQPQRVCSGEGPLKTDLMAFSPCLP
6:7373569-7373569 C>G	0.0	3775	CERVICAL	-	-	-	-	CAGE1	NM_001170692,p.E495Q|ENST00000502583,p.E495Q|ENST00000379918,p.E495Q|uc003mxl.2,p.E495Q|uc003mxj.3,p.E250Q|NM_001170693,p.E495Q|ENST00000512691,p.E507Q|ENST00000512086,p.E495Q|NM_205864,p.E359Q|ENST00000338150,p.E495Q|ENST00000296742,p.E359Q|uc021ylc.1,p.E359Q|ENST00000458291,p.E495Q|uc003mxk.2,p.E495Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc021ylc.1	nonsynonymous SNV	exon4	c.G1075C	p.E359Q	EFLSLQEEFQKLEKENLEERQKLKS	EFLSLQEEFQKLQKENLEERQKLKS	1.0	9.0	-	-	3775_6:7373569-7373569 C>G_EFLSLQEEFQKLQKENLEERQKLKS
11:33891016-33891016 C>G	1.0	3775	CERVICAL	-	-	-	1	LMO2	ENST00000257818,p.E42Q|uc010rem.2,p.E42Q|NM_005574,p.E42Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rem.2	nonsynonymous SNV	exon4	c.G124C	p.E42Q	GDGGGGGGARAPEGVRAPAAGQPRA	GDGGGGGGARAPQGVRAPAAGQPRA	9.0	8.0	-	-	3775_11:33891016-33891016 C>G_GDGGGGGGARAPQGVRAPAAGQPRA
4:8230054-8230054 G>A	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	ENST00000539824,p.R802Q|uc003gkw.4,p.R802Q|uc003gkv.4,p.R878Q|ENST00000245105,p.R878Q|NM_018986,p.R878Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon12	c.G2405A	p.R802Q	ANMVAVALKRTGRTRQAAESYYRAL	ANMVAVALKRTGQTRQAAESYYRAL	7.0	4.0	unscreened	-	3775_4:8230054-8230054 G>A_ANMVAVALKRTGQTRQAAESYYRAL
X:63488670-63488670 G>T	0.0	3775	CERVICAL	-	-	-	-	MTMR8	uc004dvs.3,p.A621D|NM_017677,p.A621D|ENST00000374852,p.A621D	protein_coding, processed_transcript	uc004dvs.3	nonsynonymous SNV	exon14	c.C1862A	p.A621D	HHNCCEIVGSLRAINISGDVGISEA	HHNCCEIVGSLRDINISGDVGISEA	3.0	4.0	-	-	3775_X:63488670-63488670 G>T_HHNCCEIVGSLRDINISGDVGISEA
14:50176439-50176439 C>T	0.0	3775	CERVICAL	-	-	-	-	KLHDC1	uc010tqg.2,p.S24L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tqg.2	nonsynonymous SNV	exon3	c.C71T	p.S24L	PMILIVGCGECTSWKENSQPPCQEA	PMILIVGCGECTLWKENSQPPCQEA	5.0	5.0	unscreened	-	3775_14:50176439-50176439 C>T_PMILIVGCGECTLWKENSQPPCQEA
10:696151-696151 C>T	0.0	3775	CERVICAL	-	-	-	-	PRR26	ENST00000381489,p.T34I|uc001ifr.3,p.T34I	protein_coding	uc001ifr.3	nonsynonymous SNV	exon1	c.C101T	p.T34I	WRSCGVGGAGEATRGGLFPVPFPSG	WRSCGVGGAGEAIRGGLFPVPFPSG	1.0	5.0	unscreened	-	3775_10:696151-696151 C>T_WRSCGVGGAGEAIRGGLFPVPFPSG
6:28093324-28093324 C>T	0.0	3775	CERVICAL	-	-	-	-	ZSCAN16	ENST00000340487,p.H35Y|uc011dky.1,p.H35Y|NM_025231,p.H35Y|uc003nkm.3,p.H35Y	protein_coding	uc011dky.1	nonsynonymous SNV	exon2	c.C103T	p.H35Y	WGQDSSSQKCSPHRRELYRQHFRKL	WGQDSSSQKCSPYRRELYRQHFRKL	5.0	7.0	-	-	3775_6:28093324-28093324 C>T_WGQDSSSQKCSPYRRELYRQHFRKL
7:92147057-92147057 C>G	1.0	3775	CERVICAL	-	-	-	-	PEX1	uc010ley.3,p.E258Q|NM_001282678,p.E50Q|ENST00000248633,p.E258Q|ENST00000428214,p.E258Q|uc003uly.3,p.E258Q|NM_000466,p.E258Q|NM_001282677,p.E258Q|uc011khr.2,p.E50Q	retained_intron, protein_coding, nonsense_mediated_decay	uc011khr.2	nonsynonymous SNV	exon5	c.G148C	p.E50Q	WTMIGSIFSFQSEKKQETSWGLTEI	WTMIGSIFSFQSQKKQETSWGLTEI	8.0	7.0	-	-	3775_7:92147057-92147057 C>G_WTMIGSIFSFQSQKKQETSWGLTEI
4:173269793-173269793 G>A	0.0	3775	CERVICAL	0.0005	-	-	-	GALNTL6	NM_001034845,p.G169E|ENST00000508122,p.G152E|ENST00000506823,p.G169E|uc003isv.3,p.G169E	protein_coding, processed_transcript	uc003isv.3	nonsynonymous SNV	exon5	c.G506A	p.G169E	LRTIHSIINRTPGSLIAEIILVDDF	LRTIHSIINRTPESLIAEIILVDDF	1.0	3.0	-	-	3775_4:173269793-173269793 G>A_LRTIHSIINRTPESLIAEIILVDDF
10:70406510-70406510 C>G	0.0	3775	CERVICAL	-	-	-	1	TET1	NM_030625,p.H1342D|ENST00000373644,p.H1342D|uc001jok.4,p.H1342D	protein_coding	uc001jok.4	nonsynonymous SNV	exon4	c.C4024G	p.H1342D	MHQRLPTLPGISHETPLPESALTLR	MHQRLPTLPGISDETPLPESALTLR	2.0	6.0	-	-	3775_10:70406510-70406510 C>G_MHQRLPTLPGISDETPLPESALTLR
22:31850219-31850219 G>C	1.0	3775	CERVICAL	-	-	-	-	EIF4ENIF1	uc003alb.2,p.L312V|uc003aky.2,p.L154V|NM_019843,p.L475V|ENST00000397523,p.L475V|uc003akz.2,p.L475V|ENST00000382180,p.L154V|ENST00000344710,p.L312V|uc003akx.2,p.L154V|ENST00000330125,p.L475V|NM_001164501,p.L475V|ENST00000397525,p.L475V|uc003ala.2,p.L475V|NM_001164502,p.L312V|ENST00000418321,p.L73V	retained_intron, protein_coding, nonsense_mediated_decay	uc003alb.2	nonsynonymous SNV	exon8	c.C934G	p.L312V	EETLSAVTNNRQLKKDGDMTAFNKL	EETLSAVTNNRQVKKDGDMTAFNKL	7.0	6.0	-	-	3775_22:31850219-31850219 G>C_EETLSAVTNNRQVKKDGDMTAFNKL
19:44116631-44116631 C>T	0.0	3775	CERVICAL	-	-	-	-	SRRM5	uc010xwr.2,p.R120W|ENST00000607544,p.R120W|ENST00000526798,p.R135W|uc002oxb.3,p.R135W|ENST00000417606,p.R120W|NM_001145641,p.R120W	protein_coding	uc010xwr.2	nonsynonymous SNV	exon1	c.C358T	p.R120W	DVRCHQRRGTHSRGRTPGRRGSRSS	DVRCHQRRGTHSWGRTPGRRGSRSS	4.0	5.0	unscreened	-	3775_19:44116631-44116631 C>T_DVRCHQRRGTHSWGRTPGRRGSRSS
17:39525658-39525658 C>G	0.0	3775	CERVICAL	-	-	-	-	KRT33B	NM_002279,p.Q115H|ENST00000251646,p.Q115H|uc002hwl.4,p.Q115H	protein_coding	uc002hwl.4	nonsynonymous SNV	exon1	c.G345C	p.Q115H	YQSYFKTIEELQQKILCSKSENARL	YQSYFKTIEELQHKILCSKSENARL	1.0	6.0	-	-	3775_17:39525658-39525658 C>G_YQSYFKTIEELQHKILCSKSENARL
22:39262596-39262596 G>C	1.0	3775	CERVICAL	-	-	-	-	CBX6	uc003awl.3,p.S286C|NM_014292,p.S286C|ENST00000216083,p.S268C|ENST00000407418,p.S286C	retained_intron, protein_coding	uc003awl.3	nonsynonymous SNV	exon5	c.C857G	p.S286C	GSSGCPSPTPQSSDPDDTPPKLLPE	GSSGCPSPTPQSCDPDDTPPKLLPE	7.0	7.0	-	-	3775_22:39262596-39262596 G>C_GSSGCPSPTPQSCDPDDTPPKLLPE
21:33689304-33689304 G>A	0.0	3775	CERVICAL	-	-	-	-	URB1	NM_014825,p.P2036L|ENST00000382751,p.P2036L|uc002ypn.2,p.P2036L	retained_intron, protein_coding, processed_transcript	uc002ypn.2	nonsynonymous SNV	exon38	c.C6107T	p.P2036L	ARAKGPRGRKRRPGEAEEMADPELM	ARAKGPRGRKRRLGEAEEMADPELM	5.0	2.0	unscreened	-	3775_21:33689304-33689304 G>A_ARAKGPRGRKRRLGEAEEMADPELM
11:71260177-71260177 A>C	0.0	3775	CERVICAL	-	-	-	-	KRTAP5-9	uc001oqs.1,p.R158S|NM_005553,p.R158S|ENST00000528743,p.R158S	protein_coding	uc001oqs.1	nonsynonymous SNV	exon1	c.A474C	p.R158S	QSSCCKPCCSQSRCCVPVCYQCKI	QSSCCKPCCSQSSCCVPVCYQCKI	1.0	5.0	unscreened	-	3775_11:71260177-71260177 A>C_QSSCCKPCCSQSSCCVPVCYQCKI
4:8230117-8230117 A>G	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	ENST00000539824,p.Q823R|NM_018986,p.Q899R|uc003gkv.4,p.Q899R|uc003gkw.4,p.Q823R|ENST00000245105,p.Q899R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon12	c.A2468G	p.Q823R	YRALRVARDLGQQRNQAVGLANFGA	YRALRVARDLGQRRNQAVGLANFGA	7.0	3.0	unscreened	-	3775_4:8230117-8230117 A>G_YRALRVARDLGQRRNQAVGLANFGA
19:15491154-15491154 C>T	1.0	3775	CERVICAL	-	-	-	-	AKAP8L	ENST00000397410,p.E574K|NM_014371,p.E574K|NM_001291478,p.E513K|uc002naw.1,p.E574K|ENST00000595465,p.E513K|uc010xoh.1,p.E513K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xoh.1	nonsynonymous SNV	exon14	c.G1537A	p.E513K	AEGGALDEGAQGEAAGISEGAEGVP	AEGGALDEGAQGKAAGISEGAEGVP	10.0	5.0	-	-	3775_19:15491154-15491154 C>T_AEGGALDEGAQGKAAGISEGAEGVP
19:9073552-9073552 C>T	0.0	3775	CERVICAL	-	-	-	2	MUC16	ENST00000397910,p.E4632K|uc002mkp.3,p.E4632K|NM_024690,p.E4632K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.G13894A	p.E4632K	IILSNVSVGAITEATKMEVPSFDAT	IILSNVSVGAITKATKMEVPSFDAT	4.0	8.0	-	-	3775_19:9073552-9073552 C>T_IILSNVSVGAITKATKMEVPSFDAT
3:100170608-100170608 ->GGCATTCTCATGAGGACCAGGAATTCCGATGCCG	0.0	3775	CERVICAL	-	-	-	-	LNP1	ENST00000383693,p.R68fs|ENST00000489752,p.R81fs|NM_001085451,p.R68fs|uc003dtx.4,p.R68fs	protein_coding, nonsense_mediated_decay	uc003dtx.4	frameshift insertion	exon3	c.202_203insGGCATTCTCATGAGGACCAGGAATTCCGATGCCG	p.R68fs	LPRIPSSDCHPRRHSHEDQEFRCRS	LPRIPSSDCHPRRHSHEDQEFRCRAFS	4.0	6.0	unscreened	-	3775_3:100170608-100170608 ->GGCATTCTCATGAGGACCAGGAATTCCGATGCCG_LPRIPSSDCHPRRHSHEDQEFRCRAFS
15:44166337-44166337 T>C	0.0	3775	CERVICAL	-	-	-	-	FRMD5	uc001ztj.1,p.S160G|NM_001286490,p.S393G|ENST00000449926,p.S453G|ENST00000484674,p.S393G|uc001ztk.1,p.S393G	retained_intron, protein_coding, nonsense_mediated_decay	uc001ztk.1	nonsynonymous SNV	exon15	c.A1177G	p.S393G	LGGELRALCQGHSGPEEEQAMVCLQ	LGGELRALCQGHGGPEEEQAMVCLQ	3.0	2.0	unscreened	-	3775_15:44166337-44166337 T>C_LGGELRALCQGHGGPEEEQAMVCLQ
7:123672492-123672492 ->GCC	0.0	3775	CERVICAL	-	-	-	-	TMEM229A	NM_001136002,p.Q189delinsRQ|ENST00000455783,p.Q189delinsRQ|uc011kob.2,p.Q189delinsRQ	protein_coding	uc011kob.2	nonframeshift insertion	exon1	c.565_566insGGC	p.Q189delinsRQ	FLRLRYGRQRRRQQQQQQQQQQQQR	FLRLRYGRQRRRRQQQQQQQQQQQQ	1.0	2.0	unscreened	-	3775_7:123672492-123672492 ->GCC_FLRLRYGRQRRRRQQQQQQQQQQQQ
21:41505787-41505787 C>G	0.0	3775	CERVICAL	-	-	ID=COSM1307811;OCCURENCE=1(urinary_tract)	-	DSCAM	NM_001271534,p.E1186Q|ENST00000400454,p.E1186Q|ENST00000404019,p.E938Q|uc031rvr.1,p.E1186Q|uc002yyq.1,p.E1186Q|NM_001389,p.E1186Q	protein_coding	uc031rvr.1	nonsynonymous SNV	exon19	c.G3556C	p.E1186Q	GVRSEQIFTRTKEDVPGPPAGVKAA	GVRSEQIFTRTKQDVPGPPAGVKAA	1.0	8.0	-	-	3775_21:41505787-41505787 C>G_GVRSEQIFTRTKQDVPGPPAGVKAA
15:44166337-44166337 T>C	0.0	3775	CERVICAL	-	-	-	-	FRMD5	ENST00000402883,p.S487G	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000402883	nonsynonymous SNV	exon14	c.A1459G	p.S487G	LGGELRALCQGHSGPEEEQSGHLKG	LGGELRALCQGHGGPEEEQSGHLKG	3.0	2.0	unscreened	-	3775_15:44166337-44166337 T>C_LGGELRALCQGHGGPEEEQSGHLKG
15:44166337-44166337 T>C	0.0	3775	CERVICAL	-	-	-	-	FRMD5	uc001ztn.3,p.S253G|uc001ztm.3,p.S160G|uc001ztl.3,p.S487G|NM_001286491,p.S253G|uc010uef.2,p.S160G|NM_032892,p.S487G|ENST00000417257,p.S487G	retained_intron, protein_coding, nonsense_mediated_decay	uc010uef.2	nonsynonymous SNV	exon4	c.A478G	p.S160G	LGGELRALCQGHSGPEEEQVNKFVL	LGGELRALCQGHGGPEEEQVNKFVL	3.0	2.0	unscreened	-	3775_15:44166337-44166337 T>C_LGGELRALCQGHGGPEEEQVNKFVL
18:19752073-19752075 ACC>-	0.0	3775	CERVICAL	-	-	-	-	GATA6	NM_005257,p.323_324del|uc002ktt.2,p.323_324del|uc002ktu.2,p.323_324del|ENST00000269216,p.323_324del|ENST00000581694,p.323_324del	protein_coding	uc002ktu.2	nonframeshift deletion	exon1	c.968_970del	p.323_324del	SSLSAARPLNGTYHHHHHHHHHHPS	SSLSAARPLNGTYHHHHHHHHHPSP	6.0	2.0	unscreened	-	3775_18:19752073-19752075 ACC>-_SSLSAARPLNGTYHHHHHHHHHPSP
19:58152400-58152400 G>T	0.0	3775	CERVICAL	-	-	-	-	ZNF211	ENST00000541801,p.E173D|ENST00000240731,p.E195D|ENST00000544273,p.E194D|ENST00000420680,p.E186D|ENST00000391703,p.E121D|NM_001265599,p.E173D|uc031rng.1,p.E247D|uc002qpq.2,p.E182D|uc010yhb.1,p.E186D|NM_001265598,p.E234D|uc010yhd.2,p.E121D|ENST00000347302,p.E182D|ENST00000299871,p.E247D|NM_198855,p.E182D|NM_006385,p.E195D|NM_001265597,p.E247D|uc002qpr.2,p.E246D|uc010yhe.2,p.E173D|ENST00000254182,p.E173D|uc031rnh.1,p.E234D|uc002qpt.2,p.E194D|uc010yhc.1,p.E194D|NM_001265600,p.E121D|uc002qpp.2,p.E195D	retained_intron, protein_coding, nonsense_mediated_decay	uc031rnh.1	nonsynonymous SNV	exon4	c.G702T	p.E234D	ASFTQSCIVHVSEKPFTCREIRKDF	ASFTQSCIVHVSDKPFTCREIRKDF	7.0	6.0	-	-	3775_19:58152400-58152400 G>T_ASFTQSCIVHVSDKPFTCREIRKDF
7:100676159-100676159 G>A	0.0	3775	CERVICAL	-	-	-	-	MUC17	NM_001040105,p.E488K|ENST00000379439,p.E488K|ENST00000306151,p.E488K|uc003uxp.1,p.E488K	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.G1462A	p.E488K	PVDSKTQVTTSTEASSSPPTAEVNS	PVDSKTQVTTSTKASSSPPTAEVNS	1.0	8.0	unscreened	-	3775_7:100676159-100676159 G>A_PVDSKTQVTTSTKASSSPPTAEVNS
7:100685794-100685794 G>T	0.0	3775	CERVICAL	-	-	-	-	MUC17	uc003uxp.1,p.M3699I|NM_001040105,p.M3699I|ENST00000379439,p.M3699I|ENST00000306151,p.M3699I	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.G11097T	p.M3699I	WTPSEGSTPLTTMPVSTTRVTSSEG	WTPSEGSTPLTTIPVSTTRVTSSEG	1.0	4.0	unscreened	-	3775_7:100685794-100685794 G>T_WTPSEGSTPLTTIPVSTTRVTSSEG
4:8233804-8233804 T>C	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	ENST00000539824,p.C942R|uc003gkw.4,p.C942R|uc003gkv.4,p.C1018R|ENST00000245105,p.C1018R|NM_018986,p.C1018R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon13	c.T2824C	p.C942R	CVIYHELQLSLACKVADKVLEGQLL	CVIYHELQLSLARKVADKVLEGQLL	7.0	5.0	-	-	3775_4:8233804-8233804 T>C_CVIYHELQLSLARKVADKVLEGQLL
10:14950920-14950920 G>C	0.0	3775	CERVICAL	-	-	-	-	DCLRE1C	NM_001289077,p.F402L|uc001inp.3,p.F402L|NM_001033858,p.F402L|uc001inm.3,p.F402L|NM_022487,p.F407L|uc001inr.3,p.F407L|NM_001033857,p.F402L|NM_001033855,p.F522L|ENST00000378258,p.F402L|ENST00000378242,p.F175L|ENST00000453695,p.F402L|NM_001289079,p.F402L|uc001ino.3,p.F407L|NM_001289078,p.F407L|ENST00000378278,p.F522L|ENST00000357717,p.F407L|NM_001289076,p.F407L|ENST00000378249,p.F407L|uc021pni.1,p.F407L|uc001inn.3,p.F522L|uc001inl.3,p.F402L|ENST00000378246,p.F407L|ENST00000396817,p.F402L|uc001ink.3,p.F175L|ENST00000378255,p.F402L|uc009xji.3,p.F407L|ENST00000378254,p.F402L|uc001inq.3,p.F402L	protein_coding, processed_transcript	uc021pni.1	nonsynonymous SNV	exon10	c.C1221G	p.F407L	STVAGGSQSPKLFSDSDGESTHISS	STVAGGSQSPKLLSDSDGESTHISS	7.0	8.0	-	-	3775_10:14950920-14950920 G>C_STVAGGSQSPKLLSDSDGESTHISS
1:108023387-108023387 C>T	0.0	3775	CERVICAL	-	-	-	-	NTNG1	uc001dvi.3,p.A83V	protein_coding, processed_transcript	uc001dvi.3	nonsynonymous SNV	exon4	c.C248T	p.A83V	RRLAAAAPTLARARPRTAPQRCCC	RRLAAAAPTLARVRPRTAPQRCCC	2.0	3.0	unscreened	-	3775_1:108023387-108023387 C>T_RRLAAAAPTLARVRPRTAPQRCCC
19:13318673-13318690 CTGCTGCTGCTGCTGCTG>-	0.0	3775	CERVICAL	-	-	-	-	CACNA1A	ENST00000585802,p.994_999del|ENST00000360228,p.2320_2325del|uc002mwx.3,p.1014_1019del|uc010dzc.2,p.1846_1851del|uc002mwy.3,p.2320_2325del|uc002mwv.3,p.825_830del|uc010xne.2,p.2323_2328del|ENST00000587525,p.795_800del|NM_001127222,p.2320_2325del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xne.2	nonframeshift deletion	exon47	c.6967_6984del	p.2323_2328del	GSGPPQQQQQQQQQQQQQAVARPGR	GSGPPQQQQQQQAVARPGRAATSGP	2.0	8.0	unscreened	-	3775_19:13318673-13318690 CTGCTGCTGCTGCTGCTG>-_GSGPPQQQQQQQAVARPGRAATSGP
10:696308-696308 T>C	0.0	3775	CERVICAL	-	-	-	-	PRR26	uc010qab.2,p.I49T|ENST00000441152,p.I49T	protein_coding	uc010qab.2	nonsynonymous SNV	exon2	c.T146C	p.I49T	PTATASPRPGLWITPAHGSHTPQTN	PTATASPRPGLWTTPAHGSHTPQTN	1.0	3.0	unscreened	-	3775_10:696308-696308 T>C_PTATASPRPGLWTTPAHGSHTPQTN
19:2291482-2291482 G>A	0.0	3775	CERVICAL	-	-	-	-	LINGO3	uc002lvo.1,p.E99K	protein_coding	uc002lvo.1	nonsynonymous SNV	exon1	c.G295A	p.E99K	TETQDAQARQVGEGAGLHVRDGVLA	TETQDAQARQVGKGAGLHVRDGVLA	3.0	7.0	unscreened	-	3775_19:2291482-2291482 G>A_TETQDAQARQVGKGAGLHVRDGVLA
14:64469825-64469825 G>C	0.0	3775	CERVICAL	-	-	-	-	SYNE2	NM_015180,p.E1392Q|NM_182914,p.E1392Q|ENST00000344113,p.E1392Q|uc021ruh.1,p.E1392Q|uc001xgm.3,p.E1392Q|ENST00000358025,p.E1392Q|uc001xgl.3,p.E1392Q|ENST00000554584,p.E1392Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ruh.1	nonsynonymous SNV	exon29	c.G4174C	p.E1392Q	CLKMLDMSFKDAERGDDTSCENLLD	CLKMLDMSFKDAQRGDDTSCENLLD	9.0	7.0	-	-	3775_14:64469825-64469825 G>C_CLKMLDMSFKDAQRGDDTSCENLLD
1:152193753-152193753 C>G	0.0	3775	CERVICAL	-	-	-	-	HRNR	ENST00000368801,p.E118Q|NM_001009931,p.E118Q|uc001ezt.2,p.E118Q	protein_coding	uc001ezt.2	nonsynonymous SNV	exon3	c.G352C	p.E118Q	HQHQEEQEETEKEENKRQESSFSHS	HQHQEEQEETEKQENKRQESSFSHS	1.0	8.0	-	-	3775_1:152193753-152193753 C>G_HQHQEEQEETEKQENKRQESSFSHS
1:247265333-247265333 T>C	0.0	3775	CERVICAL	-	-	-	-	ZNF669	ENST00000343381,p.Y115C|ENST00000476158,p.Y115C|ENST00000366500,p.Y29C|NM_024804,p.Y115C|ENST00000366501,p.Y29C|uc001icf.2,p.Y29C|uc001ice.2,p.Y115C|ENST00000448299,p.Y29C|NM_001142572,p.Y29C|ENST00000358785,p.Y115C	protein_coding	uc001icf.2	nonsynonymous SNV	exon2	c.A86G	p.Y29C	EWALLDSSQKNLYREVMQETCRNLA	EWALLDSSQKNLCREVMQETCRNLA	5.0	3.0	unscreened	-	3775_1:247265333-247265333 T>C_EWALLDSSQKNLCREVMQETCRNLA
1:152285569-152285569 G>C	0.0	3775	CERVICAL	-	-	-	-	FLG	uc001ezu.1,p.S598C|NM_002016,p.S598C|ENST00000368799,p.S598C	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.C1793G	p.S598C	SRHHEASSQADSSRHSQVGQGQSSG	SRHHEASSQADSCRHSQVGQGQSSG	1.0	8.0	unscreened	-	3775_1:152285569-152285569 G>C_SRHHEASSQADSCRHSQVGQGQSSG
22:24034699-24034699 C>G	0.0	3775	CERVICAL	-	-	-	-	RGL4	ENST00000423392,p.N119K|ENST00000290691,p.N119K|uc002zxo.3,p.N119K|ENST00000441897,p.N119K|NM_153615,p.N119K|uc002zxn.3,p.N119K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002zxo.3	nonsynonymous SNV	exon2	c.C357G	p.N119K	EIVLGQLVLPEPNEAKPDDPAPRPG	EIVLGQLVLPEPKEAKPDDPAPRPG	6.0	3.0	unscreened	-	3775_22:24034699-24034699 C>G_EIVLGQLVLPEPKEAKPDDPAPRPG
5:140223229-140223229 T>A	0.0	3775	CERVICAL	-	-	-	-	PCDHA8	NM_031856,p.C775S|uc003lhr.1,p.C775S|uc003lhs.2,p.C775S|NM_018911,p.C775S|ENST00000531613,p.C775S|ENST00000378123,p.C775S	protein_coding	uc003lhs.2	nonsynonymous SNV	exon1	c.T2323A	p.C775S	GPPKTDLMAFSPCLPPDLGSVDVGE	GPPKTDLMAFSPSLPPDLGSVDVGE	1.0	4.0	unscreened	-	3775_5:140223229-140223229 T>A_GPPKTDLMAFSPSLPPDLGSVDVGE
10:696312-696312 G>A	0.0	3775	CERVICAL	-	-	-	-	PRR26	ENST00000381489,p.A88T|uc001ifr.3,p.A88T	protein_coding	uc001ifr.3	nonsynonymous SNV	exon1	c.G262A	p.A88T	SHCKPQTGAVDNASPRQPHAPDQHE	SHCKPQTGAVDNTSPRQPHAPDQHE	1.0	3.0	unscreened	-	3775_10:696312-696312 G>A_SHCKPQTGAVDNTSPRQPHAPDQHE
10:696105-696105 A>G	0.0	3775	CERVICAL	-	-	-	-	PRR26	uc010qab.2,p.S19G|ENST00000441152,p.S19G	protein_coding	uc010qab.2	nonsynonymous SNV	exon1	c.A55G	p.S19G	DKDPPGERRPQQSQHWRARDHGARG	DKDPPGERRPQQGQHWRARDHGARG	1.0	3.0	unscreened	-	3775_10:696105-696105 A>G_DKDPPGERRPQQGQHWRARDHGARG
4:8229991-8229991 C>T	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	NM_018986,p.A857V|uc003gkw.4,p.A781V|ENST00000539824,p.A781V|uc003gkv.4,p.A857V|ENST00000245105,p.A857V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon12	c.C2342T	p.A781V	LDILQSVRDAVVASEDQEGVIANMV	LDILQSVRDAVVVSEDQEGVIANMV	7.0	5.0	unscreened	-	3775_4:8229991-8229991 C>T_LDILQSVRDAVVVSEDQEGVIANMV
22:24034996-24035001 CCAGGG>-	0.0	3775	CERVICAL	-	-	-	-	RGL4	ENST00000423392,p.172_173del|uc002zxo.3,p.172_173del|uc002zxq.3,p.36_37del|ENST00000441897,p.172_173del|uc002zxp.1,p.36_37del|NM_153615,p.172_173del|uc002zxn.3,p.172_173del|ENST00000401461,p.36_37del|ENST00000290691,p.172_173del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002zxq.3	nonframeshift deletion	exon2	c.106_111del	p.36_37del	AALGPPGYLHSAPGPAPAPGEGPPP	AALGPPGYLHSAPAPAPGEGPPPGT	6.0	5.0	unscreened	-	3775_22:24034996-24035001 CCAGGG>-_AALGPPGYLHSAPAPAPGEGPPPGT
19:39521910-39521910 C>T	1.0	3775	CERVICAL	-	-	-	-	FBXO27	NM_178820,p.E139K|uc002okh.3,p.E139K|ENST00000509137,p.E139K|ENST00000292853,p.E139K|ENST00000600828,p.E138K	retained_intron, protein_coding	uc002okh.3	nonsynonymous SNV	exon3	c.G415A	p.E139K	WMVQHGGDGWVVEENRTTVPGAPSQ	WMVQHGGDGWVVKENRTTVPGAPSQ	5.0	5.0	-	-	3775_19:39521910-39521910 C>T_WMVQHGGDGWVVKENRTTVPGAPSQ
2:102003595-102003595 C>G	0.0	3775	CERVICAL	-	-	-	-	CREG2	uc002tba.2,p.E109Q|ENST00000324768,p.E109Q|NM_153836,p.E109Q	protein_coding, processed_transcript	uc002tba.2	nonsynonymous SNV	exon1	c.G325C	p.E109Q	PPAPPGMFSYRREGGQTASAPPGPR	PPAPPGMFSYRRQGGQTASAPPGPR	1.0	8.0	-	-	3775_2:102003595-102003595 C>G_PPAPPGMFSYRRQGGQTASAPPGPR
12:25261742-25261742 T>G	0.0	3775	CERVICAL	-	-	-	-	CASC1	ENST00000395990,p.T591P|ENST00000395987,p.T637P|ENST00000320267,p.T631P|ENST00000545133,p.T572P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000545133	nonsynonymous SNV	exon13	c.A1714C	p.T572P	STKVVFKVREHLTEACTENPNWALL	STKVVFKVREHLPEACTENPNWALL	1.0	4.0	unscreened	-	3775_12:25261742-25261742 T>G_STKVVFKVREHLPEACTENPNWALL
3:170928935-170928935 C>G	0.0	3775	CERVICAL	-	-	-	-	TNIK	NM_001161562,p.K92N|uc003fhj.2,p.K92N|ENST00000488470,p.K92N|ENST00000436636,p.K92N|uc003fhi.2,p.K92N|NM_001161564,p.K92N|uc003fhk.2,p.K92N|ENST00000538048,p.K92N|uc003fhn.2,p.K92N|ENST00000284483,p.K92N|ENST00000475336,p.K92N|uc003fho.2,p.K92N|ENST00000357327,p.K92N|NM_001161565,p.K92N|uc003fhm.2,p.K92N|NM_015028,p.K92N|uc003fhl.2,p.K92N|NM_001161566,p.K92N|ENST00000470834,p.K92N|ENST00000369326,p.K92N|ENST00000468757,p.K66N|uc003fhh.2,p.K92N|ENST00000341852,p.K92N|NM_001161560,p.K92N|ENST00000460047,p.K92N|NM_001161561,p.K92N|NM_001161563,p.K92N	retained_intron, protein_coding, processed_transcript	uc003fho.2	nonsynonymous SNV	exon4	c.G276C	p.K92N	RNIATYYGAFIKKNPPGMDDQLWLV	RNIATYYGAFIKNNPPGMDDQLWLV	5.0	5.0	-	-	3775_3:170928935-170928935 C>G_RNIATYYGAFIKNNPPGMDDQLWLV
10:696266-696266 G>A	0.0	3775	CERVICAL	-	-	-	-	PRR26	ENST00000441152,p.R35H|uc010qab.2,p.R35H	protein_coding	uc010qab.2	nonsynonymous SNV	exon2	c.G104A	p.R35H	RARDHGARGCGPRQPTATASPRPGL	RARDHGARGCGPHQPTATASPRPGL	1.0	7.0	unscreened	-	3775_10:696266-696266 G>A_RARDHGARGCGPHQPTATASPRPGL
10:696105-696105 A>G	0.0	3775	CERVICAL	-	-	-	-	PRR26	ENST00000381489,p.S19G|uc001ifr.3,p.S19G	protein_coding	uc001ifr.3	nonsynonymous SNV	exon1	c.A55G	p.S19G	DKDPPGERRPQQSQHWRSCGVGGAG	DKDPPGERRPQQGQHWRSCGVGGAG	1.0	3.0	unscreened	-	3775_10:696105-696105 A>G_DKDPPGERRPQQGQHWRSCGVGGAG
2:62066902-62066902 C>G	0.0	3775	CERVICAL	-	-	-	-	FAM161A	uc010fcn.1,p.E304Q|ENST00000404929,p.E413Q|NM_001201543,p.E413Q|ENST00000405894,p.E413Q|uc002sbm.4,p.E413Q|uc002sbn.4,p.E223Q|uc010ypo.2,p.E413Q|NM_032180,p.E413Q	retained_intron, protein_coding, nonsense_mediated_decay	uc010ypo.2	nonsynonymous SNV	exon3	c.G1237C	p.E413Q	RSACGCRNPRCPEQAVKLKCKHKVR	RSACGCRNPRCPQQAVKLKCKHKVR	5.0	3.0	unscreened	-	3775_2:62066902-62066902 C>G_RSACGCRNPRCPQQAVKLKCKHKVR
3:183493744-183493746 GGA>-	0.0	3775	CERVICAL	-	-	ID=COSM1484898;OCCURENCE=1(biliary_tract),1(breast)	-	YEATS2	NM_018023,p.804_804del|ENST00000305135,p.804_804del|uc003fly.2,p.804_804del	retained_intron, protein_coding	uc003fly.2	nonframeshift deletion	exon18	c.2410_2412del	p.804_804del	QSGSAASGGSGAGGGGGGGGGGGSG	QSGSAASGGSGAGGGGGGGGGGSGS	9.0	3.0	unscreened	-	3775_3:183493744-183493746 GGA>-_QSGSAASGGSGAGGGGGGGGGGSGS
1:247264508-247264508 G>T	0.0	3775	CERVICAL	-	-	-	-	ZNF669	ENST00000448299,p.P102Q|NM_001142572,p.P102Q|NM_024804,p.P188Q|uc001ice.2,p.P188Q|ENST00000343381,p.P188Q|uc001icf.2,p.P102Q	protein_coding	uc001icf.2	nonsynonymous SNV	exon4	c.C305A	p.P102Q	LDLNENISTGLKPCECSICGKVFVR	LDLNENISTGLKQCECSICGKVFVR	5.0	5.0	unscreened	-	3775_1:247264508-247264508 G>T_LDLNENISTGLKQCECSICGKVFVR
16:70841528-70841528 C>G	0.0	3775	CERVICAL	-	-	-	-	HYDIN	uc031qwy.1,p.E5107D|NM_001270974,p.E5107D|ENST00000393567,p.E5107D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon86	c.G15321C	p.E5107D	KLTVSCPPGEGSETGVKWVYYLKGI	KLTVSCPPGEGSDTGVKWVYYLKGI	2.0	6.0	-	-	3775_16:70841528-70841528 C>G_KLTVSCPPGEGSDTGVKWVYYLKGI
12:25261742-25261742 T>G	0.0	3775	CERVICAL	-	-	-	-	CASC1	NM_001204102,p.T591P|uc001rgk.3,p.T637P|uc001rgl.3,p.T631P|NM_018272,p.T637P|NM_001082973,p.T631P|NM_001204101,p.T572P|uc010sje.2,p.T572P|uc001rgj.3,p.T591P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sje.2	nonsynonymous SNV	exon13	c.A1714C	p.T572P	STKVVFKVREHLTEECTENPNWALL	STKVVFKVREHLPEECTENPNWALL	1.0	4.0	unscreened	-	3775_12:25261742-25261742 T>G_STKVVFKVREHLPEECTENPNWALL
16:72993856-72993856 C>G	0.0	3775	CERVICAL	-	-	-	1	ZFHX3	NM_006885,p.E63D|ENST00000268489,p.E63D|uc002fck.3,p.E63D	retained_intron, protein_coding	uc002fck.3	nonsynonymous SNV	exon2	c.G189C	p.E63D	DSLRAPFNERLAESTASAGPPSEPA	DSLRAPFNERLADSTASAGPPSEPA	5.0	4.0	-	-	3775_16:72993856-72993856 C>G_DSLRAPFNERLADSTASAGPPSEPA
7:144098565-144098565 C>T	0.0	3775	CERVICAL	-	-	-	-	NOBOX	ENST00000467773,p.E140K|uc022aoj.1,p.E140K|ENST00000223140,p.E55K|ENST00000483238,p.E140K|NM_001080413,p.E140K	protein_coding	uc022aoj.1	nonsynonymous SNV	exon4	c.G418A	p.E140K	SEELPPSCTISGEKKPPAVSGEATG	SEELPPSCTISGKKKPPAVSGEATG	1.0	7.0	-	-	3775_7:144098565-144098565 C>T_SEELPPSCTISGKKKPPAVSGEATG
10:696309-696309 A>C	0.0	3775	CERVICAL	-	-	-	-	PRR26	uc001ifr.3,p.N87H|ENST00000381489,p.N87H	protein_coding	uc001ifr.3	nonsynonymous SNV	exon1	c.A259C	p.N87H	HSHCKPQTGAVDNASPRQPHAPDQH	HSHCKPQTGAVDHASPRQPHAPDQH	1.0	4.0	unscreened	-	3775_10:696309-696309 A>C_HSHCKPQTGAVDHASPRQPHAPDQH
4:8230294-8230294 G>A	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	ENST00000539824,p.R882H|uc003gkw.4,p.R882H|uc003gkv.4,p.R958H|ENST00000245105,p.R958H|NM_018986,p.R958H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon12	c.G2645A	p.R882H	THVLLQLGHLCTRQGPAQQGKGYYE	THVLLQLGHLCTHQGPAQQGKGYYE	7.0	4.0	unscreened	-	3775_4:8230294-8230294 G>A_THVLLQLGHLCTHQGPAQQGKGYYE
19:53911036-53911036 A>T	0.0	3775	CERVICAL	-	-	-	-	ZNF765	ENST00000505866,p.R23S|uc010ydx.2,p.R76S|uc002qbm.3,p.R76S|ENST00000396408,p.R76S|NM_001040185,p.R76S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ydx.2	nonsynonymous SNV	exon6	c.A228T	p.R76S	GNREVFHAGTSQRHESHHNGDFCFQ	GNREVFHAGTSQSHESHHNGDFCFQ	6.0	6.0	-	-	3775_19:53911036-53911036 A>T_GNREVFHAGTSQSHESHHNGDFCFQ
2:179430488-179430488 C>T	0.0	3775	CERVICAL	-	-	-	-	TTN	uc021vtb.2,p.D17726N|NM_003319,p.D17726N|NM_133432,p.D17851N|uc021vta.2,p.D17851N|ENST00000460472,p.D17726N|ENST00000342992,p.D24223N|ENST00000342175,p.D17918N|uc031rqd.1,p.D25150N|uc031rqc.1,p.D26791N|NM_133437,p.D17918N|uc021vsz.2,p.D17918N|ENST00000591111,p.D25150N|ENST00000589042,p.D26791N|NM_001267550,p.D26791N|ENST00000359218,p.D17851N|uc021vsy.2,p.D24223N|NM_133378,p.D24223N|NM_001256850,p.D25150N	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon276	c.G75448A	p.D25150N	EPPSPPGKVTLTDVSQTSASLMWEK	EPPSPPGKVTLTNVSQTSASLMWEK	2.0	5.0	-	-	3775_2:179430488-179430488 C>T_EPPSPPGKVTLTNVSQTSASLMWEK
18:44559534-44559534 ->CGCTGCTGCTGCTGCTGCTGCTGCTGCTCGTGCTGCTGC	0.0	3775	CERVICAL	-	-	-	-	TCEB3B	NM_016427,p.I701delinsSSSTSSSSSSSSSV|ENST00000332567,p.I701delinsSSSTSSSSSSSSSV|uc002lcr.1,p.I701delinsSSSTSSSSSSSSSV	protein_coding	uc002lcr.1	nonframeshift insertion	exon1	c.2101_2102insGCAGCAGCACGAGCAGCAGCAGCAGCAGCAGCAGCAGCG	p.I701delinsSSSTSSSSSSSSSV	SSSGGGRDSSSSILRWLPEKRANPC	SSSGGGRDSSSSSSSTSSSSSSSSS	1.0	3.0	unscreened	-	3775_18:44559534-44559534 ->CGCTGCTGCTGCTGCTGCTGCTGCTGCTCGTGCTGCTGC_SSSGGGRDSSSSSSSTSSSSSSSSS
1:247264181-247264181 T>C	0.0	3775	CERVICAL	-	-	-	-	ZNF669	ENST00000343381,p.E297G|NM_024804,p.E297G|NM_001142572,p.E211G|uc001ice.2,p.E297G|uc001icf.2,p.E211G|ENST00000448299,p.E211G	protein_coding	uc001icf.2	nonsynonymous SNV	exon4	c.A632G	p.E211G	KAFTVSGSCLIHERTHTGEKPYECK	KAFTVSGSCLIHGRTHTGEKPYECK	5.0	4.0	unscreened	-	3775_1:247264181-247264181 T>C_KAFTVSGSCLIHGRTHTGEKPYECK
1:247264020-247264020 A>C	0.0	3775	CERVICAL	-	-	-	-	ZNF669	ENST00000343381,p.Y351D|NM_024804,p.Y351D|NM_001142572,p.Y265D|uc001icf.2,p.Y265D|ENST00000448299,p.Y265D|uc001ice.2,p.Y351D	protein_coding	uc001icf.2	nonsynonymous SNV	exon4	c.T793G	p.Y265D	CDKAFSCSTSLRYHGSIHTGERPYE	CDKAFSCSTSLRDHGSIHTGERPYE	5.0	5.0	unscreened	-	3775_1:247264020-247264020 A>C_CDKAFSCSTSLRDHGSIHTGERPYE
4:8228727-8228727 A>G	0.0	3775	CERVICAL	-	-	-	-	SH3TC1	NM_018986,p.S436G|uc003gkv.4,p.S436G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkv.4	nonsynonymous SNV	exon12	c.A1306G	p.S436G	QPQEKEIPPPCLSPEPQETLQKVKN	QPQEKEIPPPCLGPEPQETLQKVKN	7.0	5.0	unscreened	-	3775_4:8228727-8228727 A>G_QPQEKEIPPPCLGPEPQETLQKVKN
1:207073693-207073693 G>A	0.0	3775	CERVICAL	-	-	-	-	IL24	NM_001185158,p.R33K|uc001hex.2,p.R33K|ENST00000480741,p.R33K	protein_coding, processed_transcript, nonsense_mediated_decay	uc001hex.2	nonsynonymous SNV	exon3	c.G98A	p.R33K	SRVPGCCSRRFCRTSRKKMRCFPSE	SRVPGCCSRRFCKTSRKKMRCFPSE	4.0	4.0	unscreened	-	3775_1:207073693-207073693 G>A_SRVPGCCSRRFCKTSRKKMRCFPSE
20:43851907-43851907 G>A	0.0	3775	CERVICAL	-	-	-	-	SEMG2	uc002xnk.3,p.R545K|NM_003008,p.R545K|ENST00000372769,p.R545K|uc002xnl.3,p.R425K|uc010ggz.3,p.R545K	protein_coding	uc010ggz.3	nonsynonymous SNV	exon2	c.G1634A	p.R545K	SKQDLLSHEQKGRYKQESSESHNIV	SKQDLLSHEQKGKYKQESSESHNIV	1.0	7.0	-	-	3775_20:43851907-43851907 G>A_SKQDLLSHEQKGKYKQESSESHNIV
6:146056349-146056349 C>T	0.0	3775	CERVICAL	-	-	-	-	EPM2A	uc010khr.3,p.E96K|ENST00000367519,p.E96K|NM_001018041,p.E96K|NM_005670,p.E96K|uc003qkv.3,p.E96K|uc003qkw.3,p.E96K	protein_coding, processed_transcript	uc010khr.3	nonsynonymous SNV	exon1	c.G286A	p.E96K	FWYKFLKREPGGELSWEGNGPHHDR	FWYKFLKREPGGKLSWEGNGPHHDR	4.0	6.0	-	-	3775_6:146056349-146056349 C>T_FWYKFLKREPGGKLSWEGNGPHHDR
7:100645834-100645834 A>G	0.0	3775	CERVICAL	-	rs77650383	-	-	MUC12	uc003uxo.3,p.H3997R|ENST00000379442,p.H4140R|NM_001164462,p.H3997R|ENST00000536621,p.H3997R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.A11990G	p.H3997R	TTSGLSQEPTTSHSSQGSTEATLSP	TTSGLSQEPTTSRSSQGSTEATLSP	1.0	4.0	unscreened	-	3775_7:100645834-100645834 A>G_TTSGLSQEPTTSRSSQGSTEATLSP
10:118390759-118390759 G>C	0.0	3775	CERVICAL	-	-	-	-	PNLIPRP2	ENST00000537242,p.M236I	retained_intron, protein_coding, processed_transcript, polymorphic_pseudogene	ENST00000537242	nonsynonymous SNV	exon9	c.G708C	p.M236I	DSSPIVPSLGFGMSQKVGHLDFFPN	DSSPIVPSLGFGISQKVGHLDFFPN	1.0	5.0	-	-	3775_10:118390759-118390759 G>C_DSSPIVPSLGFGISQKVGHLDFFPN
9:125438336-125438336 C>G	0.0	3775	CERVICAL	-	-	-	-	OR1L3	uc011lzb.2,p.Q310E|ENST00000304820,p.Q310E|NM_001005234,p.Q310E	protein_coding	uc011lzb.2	nonsynonymous SNV	exon1	c.C928G	p.Q310E	RGLQKLINKIKSQMSRFSTKTNKIC	RGLQKLINKIKSEMSRFSTKTNKIC	1.0	5.0	-	-	3775_9:125438336-125438336 C>G_RGLQKLINKIKSEMSRFSTKTNKIC
X:49019235-49019235 C>T	0.0	3775	CERVICAL	-	-	-	-	MAGIX	uc010nio.1,p.P3L|uc010nin.1,p.P3L|ENST00000425661,p.P3L|uc004dmt.2,p.P3L|ENST00000412696,p.P3L	protein_coding, processed_transcript	uc010nio.1	nonsynonymous SNV	exon1	c.C8T	p.P3L	MEPRTGGAANPKGSR	MELRTGGAANPKGSR	4.0	5.0	-	-	3775_X:49019235-49019235 C>T_MELRTGGAANPKGSR
11:71260197-71260197 A>G	0.0	3775	CERVICAL	-	-	-	-	KRTAP5-9	NM_005553,p.Y165C|ENST00000528743,p.Y165C|uc001oqs.1,p.Y165C	protein_coding	uc001oqs.1	nonsynonymous SNV	exon1	c.A494G	p.Y165C	CCSQSRCCVPVCYQCKI	CCSQSRCCVPVCCQCKI	1.0	4.0	unscreened	-	3775_11:71260197-71260197 A>G_CCSQSRCCVPVCCQCKI
21:27066172-27066172 G>C	0.0	3775	CERVICAL	-	-	-	-	JAM2	uc031rvc.1,p.E116Q|ENST00000480456,p.E116Q|ENST00000312957,p.E116Q|uc002ylp.2,p.E116Q|NM_021219,p.E116Q|uc011ace.2,p.E116Q|uc011acf.2,p.E80Q|ENST00000425221,p.E80Q|NM_001270408,p.E116Q|NM_001270407,p.E80Q|ENST00000400532,p.E116Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rvc.1	nonsynonymous SNV	exon4	c.G346C	p.E116Q	AGKYRCEVSAPSEQGQNLEEDTVTL	AGKYRCEVSAPSQQGQNLEEDTVTL	6.0	6.0	-	-	3775_21:27066172-27066172 G>C_AGKYRCEVSAPSQQGQNLEEDTVTL
X:49019235-49019235 C>T	0.0	3775	CERVICAL	-	-	-	-	MAGIX	NM_001099681,p.P3L|NM_024859,p.P3L|NM_001099682,p.P3L	protein_coding, processed_transcript	NM_024859	nonsynonymous SNV	exon1	c.C8T	p.P3L	MEPRTGDAADPRGSR	MELRTGDAADPRGSR	4.0	5.0	-	-	3775_X:49019235-49019235 C>T_MELRTGDAADPRGSR
1:179504035-179504040 AAGAAC>-	0.0	3775	CERVICAL	-	-	ID=COSM146262;OCCURENCE=2(haematopoietic_and_lymphoid_tissue)	-	AXDND1	ENST00000434088,p.850_852del|uc021pfj.1,p.874_876del|ENST00000367618,p.990_992del|uc001gmo.3,p.990_992del|NM_144696,p.990_992del	protein_coding, processed_transcript, nonsense_mediated_decay	uc021pfj.1	nonframeshift deletion	exon21	c.2621_2626del	p.874_876del	KENQDEREVKEEEEQQEEEEVRSAE	KENQDEREVKEEEQEEEEVRSAENS	1.0	5.0	unscreened	-	3775_1:179504035-179504040 AAGAAC>-_KENQDEREVKEEEQEEEEVRSAENS
20:18037360-18037360 C>G	0.0	3775	CERVICAL	-	-	-	-	OVOL2	NM_021220,p.E88Q|ENST00000278780,p.E88Q|uc002wqi.1,p.E88Q	protein_coding, processed_transcript	uc002wqi.1	nonsynonymous SNV	exon2	c.G262C	p.E88Q	APESETPEPGDAEGPDGHLATKQRP	APESETPEPGDAQGPDGHLATKQRP	4.0	5.0	-	-	3775_20:18037360-18037360 C>G_APESETPEPGDAQGPDGHLATKQRP
9:140918181-140918181 A>G	0.0	3775	CERVICAL	-	rs11137342	ID=COSM3750165;OCCURENCE=6(large_intestine)	-	CACNA1B	uc011mfd.2,p.T597A|NM_001243812,p.T996A|ENST00000371355,p.T997A|ENST00000371363,p.T996A|uc004cog.3,p.T996A|ENST00000371372,p.T996A|ENST00000277551,p.T996A|uc022bqn.1,p.T996A|ENST00000371357,p.T997A|uc031tfy.1,p.T996A|ENST00000277549,p.T188A|uc004coi.3,p.T206A|uc031tfz.1,p.T996A|NM_000718,p.T996A	protein_coding	uc031tfz.1	nonsynonymous SNV	exon19	c.A2986G	p.T996A	KAQPAHEAVEKETTEKEATEKEAEI	KAQPAHEAVEKEATEKEATEKEAEI	1.0	6.0	unscreened	-	3775_9:140918181-140918181 A>G_KAQPAHEAVEKEATEKEATEKEAEI
9:74061618-74061618 G>C	0.0	3775	CERVICAL	-	-	-	-	TRPM3,TMEM2	ENST00000357533,p.S45C|uc004aii.3,p.S45C|ENST00000423814,p.S45C	retained_intron, protein_coding, processed_transcript	uc004aii.3	nonsynonymous SNV	exon1	c.C134G	p.S45C	RGRFAESWKRLSSKQGSTKRSGLPS	RGRFAESWKRLSCKQGSTKRSGLPS	1.0	5.0	-	-	3775_9:74061618-74061618 G>C_RGRFAESWKRLSCKQGSTKRSGLPS
9:32633592-32633592 G>C	0.0	3775	CERVICAL	-	-	-	-	TAF1L	NM_153809,p.I662M|ENST00000242310,p.I662M|uc003zrg.1,p.I662M	protein_coding	uc003zrg.1	nonsynonymous SNV	exon1	c.C1986G	p.I662M	PGPHSVQPLLKHIKKKAKMREQERQ	PGPHSVQPLLKHMKKKAKMREQERQ	1.0	6.0	-	-	3775_9:32633592-32633592 G>C_PGPHSVQPLLKHMKKKAKMREQERQ
15:52416716-52416716 G>A	1.0	3784	MELANOMA	-	-	-	-	GNB5	uc002abr.1,p.P335L|uc002abt.1,p.P377L|ENST00000396335,p.P265L|uc002abs.1,p.P265L|ENST00000261837,p.P377L|ENST00000358784,p.P335L|NM_016194,p.P377L|NM_006578,p.P335L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002abt.1	nonsynonymous SNV	exon12	c.C1130T	p.P377L	GHENRVSTLRVSPDGTAFCSGSWDH	GHENRVSTLRVSLDGTAFCSGSWDH	5.0	6.0	CD8	-	3784_15:52416716-52416716 G>A_GHENRVSTLRVSLDGTAFCSGSWDH
20:16359621-16359621 A>G	1.0	3784	MELANOMA	-	-	-	-	KIF16B	uc002wpf.1,p.L391P|uc010gci.2,p.L1009P|ENST00000355755,p.L1009P|uc002wpe.1,p.L391P|uc002wpg.2,p.L1009P|NM_001199865,p.L1009P|NM_001199866,p.L1009P|NM_024704,p.L1009P|uc010gcj.2,p.L1020P|uc010gch.2,p.L1009P|ENST00000378003,p.L235P|ENST00000354981,p.L1009P|ENST00000408042,p.L1009P	protein_coding	uc010gcj.2	nonsynonymous SNV	exon20	c.T3059C	p.L1020P	REKQQREALERALARLERRHSALQR	REKQQREALERAPARLERRHSALQR	7.0	7.0	CD8	-	3784_20:16359621-16359621 A>G_REKQQREALERAPARLERRHSALQR
5:139905751-139905751 C>T	1.0	3784	MELANOMA	-	-	-	-	ANKHD1,ANKHD1-EIF4EBP3	ENST00000532219,p.P1555S|ENST00000433049,p.P77S|NM_017747,p.P1555S|ENST00000431508,p.P211S|uc003lfr.3,p.P1555S|uc003lfu.1,p.P1035S|ENST00000360839,p.P1555S|NM_020690,p.P1555S|uc011czh.1,p.P294S|ENST00000297183,p.P1555S|uc003lfw.3,p.P193S|uc003lfs.2,p.P1555S	retained_intron, protein_coding, processed_transcript	uc011czh.1	nonsynonymous SNV	exon6	c.C880T	p.P294S	RKNKKNKTKETPPTAHLILPEQHMS	RKNKKNKTKETPSTAHLILPEQHMS	10.0	4.0	-	-	3784_5:139905751-139905751 C>T_RKNKKNKTKETPSTAHLILPEQHMS
13:97995285-97995285 G>A	1.0	3784	MELANOMA	-	-	-	-	MBNL2	uc001vna.4,p.G119S|ENST00000343600,p.G119S|NM_207304,p.G119S|ENST00000397601,p.G119S|uc031qmz.1,p.G119S|ENST00000376673,p.G119S|ENST00000345429,p.G119S|uc001vmz.4,p.G119S|uc010aft.4,p.G119S|NM_144778,p.G119S|ENST00000469707,p.G119S	protein_coding, nonsense_mediated_decay	uc031qmz.1	nonsynonymous SNV	exon5	c.G355A	p.G119S	GTPLHPVPTFPVGPAIGTNTAISFA	GTPLHPVPTFPVSPAIGTNTAISFA	9.0	10.0	-	-	3784_13:97995285-97995285 G>A_GTPLHPVPTFPVSPAIGTNTAISFA
5:68419035-68419035 T>C	1.0	3784	MELANOMA	-	-	-	-	SLC30A5	uc003jvk.3,p.L323P|uc003jvi.3,p.L423P|NM_022902,p.L594P|uc003jvh.3,p.L594P|ENST00000396591,p.L594P	retained_intron, protein_coding, nonsense_mediated_decay	uc003jvk.3	nonsynonymous SNV	exon6	c.T968C	p.L323P	GGGMNANMRGVFLHVLADTLGSIGV	GGGMNANMRGVFPHVLADTLGSIGV	9.0	6.0	-	-	3784_5:68419035-68419035 T>C_GGGMNANMRGVFPHVLADTLGSIGV
18:32374112-32374112 C>T	1.0	3784	MELANOMA	-	-	-	-	DTNA	uc002kxy.2,p.T87I|NM_001198945,p.T87I|ENST00000283365,p.T87I|ENST00000596745,p.T87I|NM_001390,p.T87I|NM_032975,p.T87I|NM_001392,p.T87I|NM_001128175,p.T87I|uc002kxx.2,p.T87I|uc002kxv.4,p.T87I|uc002kxu.2,p.T87I|ENST00000444659,p.T87I|NM_001198938,p.T87I|NM_001198941,p.T87I|ENST00000597599,p.T87I|ENST00000399113,p.T87I|ENST00000399121,p.T87I|ENST00000554864,p.T87I|uc010dmn.1,p.T87I|ENST00000348997,p.T87I|ENST00000595022,p.T87I|ENST00000588949,p.T89I|NM_032979,p.T87I|ENST00000590412,p.T87I|NM_032978,p.T87I|uc002kxw.2,p.T87I|uc010dmj.3,p.T87I|uc010xbx.2,p.T87I|ENST00000598142,p.T87I|ENST00000269191,p.T87I|NM_001391,p.T87I|NM_001198939,p.T87I|uc010dml.3,p.T87I|ENST00000315456,p.T87I|ENST00000269190,p.T87I|uc002kyb.4,p.T87I|NM_001198940,p.T87I|ENST00000598774,p.T87I|uc010dmm.3,p.T87I|ENST00000598334,p.T87I|ENST00000590598,p.T87I|uc002kxz.2,p.T87I	protein_coding, processed_transcript	uc010xbx.2	nonsynonymous SNV	exon5	c.C260T	p.T87I	ELNVSRLEAVLSTIFYQLNKRMPTT	ELNVSRLEAVLSIIFYQLNKRMPTT	7.0	2.0	-	-	3784_18:32374112-32374112 C>T_ELNVSRLEAVLSIIFYQLNKRMPTT
5:148420983-148420983 G>A	1.0	3784	MELANOMA	-	-	-	-	SH3TC2	ENST00000512049,p.H236Y|uc003lpu.3,p.H243Y|uc010jgx.3,p.H236Y|ENST00000515425,p.H243Y|NM_024577,p.H243Y|ENST00000504517,p.H43Y|uc011dbz.1,p.H128Y|ENST00000504690,p.H243Y|ENST00000394358,p.H128Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dbz.1	nonsynonymous SNV	exon7	c.C382T	p.H128Y	LVSALEPLPLPFHQWFLKNYPGSCG	LVSALEPLPLPFYQWFLKNYPGSCG	6.0	3.0	-	-	3784_5:148420983-148420983 G>A_LVSALEPLPLPFYQWFLKNYPGSCG
6:79752663-79752663 G>A	1.0	3784	MELANOMA	-	-	-	-	PHIP	uc011dyp.2,p.P166L|NM_017934,p.P166L|ENST00000275034,p.P166L|uc003pir.3,p.P166L	protein_coding, processed_transcript	uc011dyp.2	nonsynonymous SNV	exon7	c.C497T	p.P166L	KLNGKYRLERLVPTAVYQHMKMHKR	KLNGKYRLERLVLTAVYQHMKMHKR	7.0	9.0	-	-	3784_6:79752663-79752663 G>A_KLNGKYRLERLVLTAVYQHMKMHKR
1:16459801-16459801 C>T	1.0	3784	MELANOMA	-	-	-	-	EPHA2	uc001aya.2,p.V643M|NM_004431,p.V643M|ENST00000358432,p.V643M	protein_coding, processed_transcript	uc001aya.2	nonsynonymous SNV	exon11	c.G1927A	p.V643M	MLKTSSGKKEVPVAIKTLKAGYTEK	MLKTSSGKKEVPMAIKTLKAGYTEK	6.0	3.0	-	-	3784_1:16459801-16459801 C>T_MLKTSSGKKEVPMAIKTLKAGYTEK
13:25009297-25009297 G>A	1.0	3784	MELANOMA	-	-	-	-	PARP4	NM_006437,p.P1328S|ENST00000381989,p.P1328S|uc001upl.3,p.P1328S	retained_intron, protein_coding, processed_transcript	uc001upl.3	nonsynonymous SNV	exon31	c.C3982T	p.P1328S	FPILAPAVGSYLPPTARAHSPASLS	FPILAPAVGSYLSPTARAHSPASLS	7.0	10.0	unscreened	-	3784_13:25009297-25009297 G>A_FPILAPAVGSYLSPTARAHSPASLS
8:145051686-145051686 G>A	1.0	3784	MELANOMA	-	-	-	-	PARP10	uc003zal.4,p.P1015L|ENST00000313028,p.P1015L|ENST00000525773,p.P1027L|ENST00000524918,p.P1006L|NM_032789,p.P1015L|uc011lku.2,p.P1027L|uc003zak.4,p.P712L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lku.2	nonsynonymous SNV	exon10	c.C3080T	p.P1027L	TCEHVPRASPDDPSGLPGRSPDT	TCEHVPRASPDDLSGLPGRSPDT	9.0	7.0	-	-	3784_8:145051686-145051686 G>A_TCEHVPRASPDDLSGLPGRSPDT
8:144874059-144874059 G>A	1.0	3784	MELANOMA	-	-	-	-	SCRIB	NM_182706,p.S1561F|ENST00000356994,p.S1561F|uc003yzo.1,p.S1561F	retained_intron, protein_coding, processed_transcript	uc003yzo.1	nonsynonymous SNV	exon34	c.C4682T	p.S1561F	TPVEDLGPQTSTSPGRLPLSGKKFD	TPVEDLGPQTSTFPGRLPLSGKKFD	9.0	9.0	-	-	3784_8:144874059-144874059 G>A_TPVEDLGPQTSTFPGRLPLSGKKFD
17:48626839-48626839 C>T	1.0	3784	MELANOMA	-	-	-	-	SPATA20	uc002ire.3,p.P225S|NM_001258372,p.P269S|ENST00000006658,p.P285S|uc010wmv.1,p.P295S|NM_001258373,p.P225S|uc002irf.3,p.P269S|NM_022827,p.P285S|ENST00000356488,p.P269S|uc002ird.3,p.P285S|ENST00000393244,p.P225S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wmv.1	nonsynonymous SNV	exon5	c.C883T	p.P295S	EEYGGFAEAPKFPTPVILSFLFSYW	EEYGGFAEAPKFSTPVILSFLFSYW	9.0	4.0	-	-	3784_17:48626839-48626839 C>T_EEYGGFAEAPKFSTPVILSFLFSYW
5:90281213-90281213 G>A	1.0	3784	MELANOMA	-	-	-	-	GPR98	uc003kju.3,p.R6009Q|uc003kjw.3,p.R1670Q|ENST00000425867,p.R1670Q|ENST00000405460,p.R6009Q|NM_032119,p.R6009Q|uc003kjx.3,p.R37Q	retained_intron, protein_coding, processed_transcript	uc003kjx.3	nonsynonymous SNV	exon3	c.G110A	p.R37Q	YVLVMNDEHTERRYLLFFLLSWGLP	YVLVMNDEHTERQYLLFFLLSWGLP	7.0	3.0	-	-	3784_5:90281213-90281213 G>A_YVLVMNDEHTERQYLLFFLLSWGLP
4:83785646-83785646 C>T	1.0	3784	MELANOMA	-	-	-	-	SEC31A	NM_001191049,p.E430K|NM_001077207,p.E435K|uc011ccl.2,p.E435K|ENST00000395310,p.E435K|uc003hnk.3,p.E435K|ENST00000505472,p.E435K|uc003hni.3,p.E435K|ENST00000508479,p.E435K|NM_014933,p.E435K|ENST00000348405,p.E435K|NM_016211,p.E435K|uc011ccn.2,p.E435K|uc003hno.3,p.E435K|NM_001300745,p.E435K|NM_001300744,p.E435K|uc003hnh.3,p.E435K|ENST00000509142,p.E435K|ENST00000355196,p.E435K|ENST00000513858,p.E435K|ENST00000505984,p.E435K|NM_001077206,p.E435K|ENST00000326950,p.E435K|uc003hnf.3,p.E435K|ENST00000432794,p.E435K|uc003hng.3,p.E435K|uc003hnl.3,p.E435K|ENST00000508502,p.E435K|uc003hnn.2,p.E435K|uc003hne.3,p.E207K|ENST00000500777,p.E435K|ENST00000443462,p.E430K|ENST00000311785,p.E435K|uc003hnm.3,p.E435K|uc011ccm.2,p.E430K|NM_001077208,p.E435K|ENST00000448323,p.E435K|ENST00000264405,p.E207K|ENST00000510167,p.E36K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ccn.2	nonsynonymous SNV	exon11	c.G1303A	p.E435K	QQHHVFISQVVTEKEFLSRSDQLQQ	QQHHVFISQVVTKKEFLSRSDQLQQ	10.0	3.0	-	-	3784_4:83785646-83785646 C>T_QQHHVFISQVVTKKEFLSRSDQLQQ
21:34927316-34927316 C>T	1.0	3784	MELANOMA	-	-	-	-	SON	ENST00000290239,p.R1927C|NM_001291411,p.R1927C|uc002ysd.3,p.R918C|ENST00000455528,p.R1927C|ENST00000300278,p.R1927C|uc002ysg.3,p.R918C|NM_032195,p.R1927C|ENST00000381679,p.R1927C|uc002ysc.3,p.R1927C|ENST00000356577,p.R1927C|uc002yse.1,p.R1927C|uc002ysb.1,p.R1927C|NM_138927,p.R1927C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ysg.3	nonsynonymous SNV	exon1	c.C2752T	p.R918C	RKTVRARSRTPSRRSRSHTPSRRRR	RKTVRARSRTPSCRSRSHTPSRRRR	10.0	3.0	CD8	-	3784_21:34927316-34927316 C>T_RKTVRARSRTPSCRSRSHTPSRRRR
10:91177249-91177249 G>A	1.0	3784	MELANOMA	-	-	ID=COSM428108;OCCURENCE=1(breast)	-	IFIT5	ENST00000416601,p.G98E|uc010qng.1,p.G98E|ENST00000371795,p.G98E|NM_012420,p.G98E|uc010qnh.2,p.G98E	protein_coding	uc010qnh.2	nonsynonymous SNV	exon2	c.G293A	p.G98E	SDKEEVRSLVTWGNYAWVYYHMDQL	SDKEEVRSLVTWENYAWVYYHMDQL	8.0	10.0	-	-	3784_10:91177249-91177249 G>A_SDKEEVRSLVTWENYAWVYYHMDQL
6:3015767-3015767 C>T	1.0	3784	MELANOMA	-	-	-	-	NQO2	ENST00000397717,p.P103S|uc003mus.2,p.P103S|NM_001290221,p.P103S|ENST00000338130,p.P103S|NM_000904,p.P103S|ENST00000380455,p.P103S|ENST00000380430,p.P103S|ENST00000380472,p.P103S|uc003mut.2,p.P103S	protein_coding	uc003mut.2	nonsynonymous SNV	exon8	c.C307T	p.P103S	KVREADLVIFQFPLYWFSVPAILKG	KVREADLVIFQFSLYWFSVPAILKG	8.0	3.0	-	-	3784_6:3015767-3015767 C>T_KVREADLVIFQFSLYWFSVPAILKG
18:55322520-55322520 C>T	1.0	3784	MELANOMA	-	-	-	-	ATP8B1	NM_005603,p.R946K|ENST00000283684,p.R946K|ENST00000536015,p.R946K|uc002lgw.3,p.R946K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002lgw.3	nonsynonymous SNV	exon23	c.G2837A	p.R946K	RLLLVHGRWSYIRMCKFLRYFFYKN	RLLLVHGRWSYIKMCKFLRYFFYKN	8.0	8.0	-	-	3784_18:55322520-55322520 C>T_RLLLVHGRWSYIKMCKFLRYFFYKN
9:135976958-135976958 G>A	1.0	3784	MELANOMA	-	-	-	2	RALGDS	uc004ccv.1,p.H629Y	protein_coding, processed_transcript	uc004ccv.1	nonsynonymous SNV	exon11	c.C1885T	p.H629Y	AALQPAGGRLLYHPRQPGRGQWQHV	AALQPAGGRLLYYPRQPGRGQWQHV	8.0	3.0	-	-	3784_9:135976958-135976958 G>A_AALQPAGGRLLYYPRQPGRGQWQHV
5:140041904-140041904 C>T	1.0	3784	MELANOMA	-	-	-	-	IK	uc003lgq.3,p.P555L|ENST00000417647,p.P555L|NM_006083,p.P555L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003lgq.3	nonsynonymous SNV	exon20	c.C1664T	p.P555L	KKMEADGVEVKRPKY	KKMEADGVEVKRLKY	10.0	8.0	-	-	3784_5:140041904-140041904 C>T_KKMEADGVEVKRLKY
6:30627847-30627847 G>A	1.0	3784	MELANOMA	-	-	-	-	DHX16	ENST00000376442,p.P573S|uc011dmo.2,p.P513S|ENST00000376437,p.P92S|NM_003587,p.P573S|uc003nqz.3,p.P573S|uc003nqy.3,p.P92S|NM_001164239,p.P513S	protein_coding, processed_transcript	uc011dmo.2	nonsynonymous SNV	exon10	c.C1537T	p.P513S	STFFDDAPVFRIPGRRFPVDIFYTK	STFFDDAPVFRISGRRFPVDIFYTK	9.0	2.0	-	-	3784_6:30627847-30627847 G>A_STFFDDAPVFRISGRRFPVDIFYTK
17:61890606-61890606 C>T	1.0	3784	MELANOMA	-	-	-	-	DDX42	uc002jby.3,p.P111L|NM_203499,p.P565L|uc002jbx.3,p.P301L|ENST00000583590,p.P565L|ENST00000457800,p.P565L|uc002jbu.3,p.P565L|NM_007372,p.P565L|ENST00000578681,p.P565L|ENST00000359353,p.P446L|uc002jbw.1,p.P301L|uc002jbv.3,p.P565L|ENST00000389924,p.P565L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jby.3	nonsynonymous SNV	exon2	c.C332T	p.P111L	VATDVAARGLDIPSIKTVINYDVAR	VATDVAARGLDILSIKTVINYDVAR	9.0	5.0	-	-	3784_17:61890606-61890606 C>T_VATDVAARGLDILSIKTVINYDVAR
12:53680659-53680659 C>T	1.0	3784	MELANOMA	-	-	-	-	ESPL1	ENST00000552462,p.A1380V|uc001scj.2,p.A1055V|NM_012291,p.A1380V|uc001sck.2,p.A1380V|ENST00000257934,p.A1380V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sck.2	nonsynonymous SNV	exon18	c.C4139T	p.A1380V	VCPTESKPEVPQAPRVQQRVQTRLK	VCPTESKPEVPQVPRVQQRVQTRLK	7.0	2.0	-	-	3784_12:53680659-53680659 C>T_VCPTESKPEVPQVPRVQQRVQTRLK
7:128498064-128498064 C>T	1.0	3784	MELANOMA	-	-	-	-	FLNC	uc003voa.4,p.P2562S|uc003vnz.4,p.P2595S|NM_001127487,p.P2562S|ENST00000346177,p.P2562S|NM_001458,p.P2595S|ENST00000325888,p.P2595S	retained_intron, protein_coding	uc003voa.4	nonsynonymous SNV	exon46	c.C7684T	p.P2562S	IVGSPFKAKVTGPRLSGGHSLHETS	IVGSPFKAKVTGSRLSGGHSLHETS	5.0	9.0	-	-	3784_7:128498064-128498064 C>T_IVGSPFKAKVTGSRLSGGHSLHETS
6:31940123-31940123 G>A	0.0	3784	MELANOMA	-	-	ID=COSM21037,COSM226579;OCCURENCE=6(skin)	-	STK19	uc011dow.2,p.D89N|NM_004197,p.D89N|uc003nyw.3,p.D89N|uc003nyv.3,p.D89N|ENST00000460018,p.D89N|ENST00000375333,p.D89N|ENST00000375331,p.D89N|uc011dox.1,p.D46N|uc003nyt.3,p.D46N|NM_032454,p.D89N	retained_intron, protein_coding, nonsense_mediated_decay	uc011dox.1	nonsynonymous SNV	exon1	c.G136A	p.D46N	PGETVRHCSAPEDPIFRFSSLHSYP	PGETVRHCSAPENPIFRFSSLHSYP	7.0	2.0	unscreened	-	3784_6:31940123-31940123 G>A_PGETVRHCSAPENPIFRFSSLHSYP
7:87529601-87529601 C>T	1.0	3784	MELANOMA	-	-	-	-	DBF4	uc003ujf.1,p.P249L|NM_006716,p.P249L|ENST00000265728,p.P249L|uc003ujg.1,p.P25L	retained_intron, protein_coding, nonsense_mediated_decay	uc003ujg.1	nonsynonymous SNV	exon9	c.C74T	p.P25L	TNMPFINYSIQKPCSPFDVDKPSSM	TNMPFINYSIQKLCSPFDVDKPSSM	8.0	5.0	-	-	3784_7:87529601-87529601 C>T_TNMPFINYSIQKLCSPFDVDKPSSM
11:117232587-117232587 C>T	0.0	3784	MELANOMA	-	-	-	-	CEP164	NM_001271933,p.L144F|ENST00000278935,p.L144F|uc001prb.4,p.L144F|uc001prc.3,p.L144F|ENST00000533153,p.L98F|NM_014956,p.L144F|uc010rxk.1,p.L144F|ENST00000525416,p.L98F	retained_intron, protein_coding, processed_transcript	uc010rxk.1	nonsynonymous SNV	exon5	c.C430T	p.L144F	ALGSSLAPVHVPLGGLAPLRGLVDT	ALGSSLAPVHVPFGGLAPLRGLVDT	7.0	10.0	unscreened	-	3784_11:117232587-117232587 C>T_ALGSSLAPVHVPFGGLAPLRGLVDT
5:176468821-176468821 C>T	1.0	3784	MELANOMA	-	-	-	-	ZNF346	ENST00000511834,p.H108Y|uc003mfi.3,p.H108Y|ENST00000503039,p.H133Y|uc003mfk.1,p.H133Y|NM_012279,p.H108Y|ENST00000513587,p.H108Y|ENST00000508155,p.H108Y|ENST00000261948,p.H133Y|ENST00000358149,p.H108Y	retained_intron, protein_coding, nonsense_mediated_decay	uc003mfk.1	nonsynonymous SNV	exon4	c.C397T	p.H133Y	KHANKVKRYLAIHGMETLKGETKKL	KHANKVKRYLAIYGMETLKGETKKL	6.0	5.0	-	-	3784_5:176468821-176468821 C>T_KHANKVKRYLAIYGMETLKGETKKL
3:47158197-47158197 C>T	1.0	3784	MELANOMA	-	-	ID=COSM1423558,COSM1423557;OCCURENCE=2(large_intestine)	1	SETD2	ENST00000409792,p.C1501Y|NM_014159,p.C1501Y|uc003cqs.3,p.C1501Y|uc003cqv.3,p.C1490Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003cqv.3	nonsynonymous SNV	exon4	c.G4469A	p.C1490Y	KSHRDIKRMQCECTPLSKDERAQGE	KSHRDIKRMQCEYTPLSKDERAQGE	7.0	3.0	-	-	3784_3:47158197-47158197 C>T_KSHRDIKRMQCEYTPLSKDERAQGE
11:117100520-117100520 G>A	1.0	3784	MELANOMA	-	-	-	-	PCSK7	uc001pqr.3,p.P14L|NM_004716,p.P14L|ENST00000530269,p.P14L|ENST00000525027,p.P14L|ENST00000320934,p.P14L|ENST00000532301,p.P14L|ENST00000524507,p.P14L	retained_intron, protein_coding, processed_transcript	uc001pqr.3	nonsynonymous SNV	exon3	c.C41T	p.P14L	PKGRQKVPHLDAPLGLPTCLWLELA	PKGRQKVPHLDALLGLPTCLWLELA	9.0	10.0	-	-	3784_11:117100520-117100520 G>A_PKGRQKVPHLDALLGLPTCLWLELA
1:43896743-43896743 C>T	1.0	3784	MELANOMA	0.0014	-	-	-	SZT2	ENST00000372442,p.S734L|ENST00000562955,p.S1576L|NM_015284,p.S1576L|uc001cjk.3,p.S1576L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001cjk.3	nonsynonymous SNV	exon32	c.C4727T	p.S1576L	LTLPLEVELPTASDPQHHRSTSESS	LTLPLEVELPTALDPQHHRSTSESS	7.0	5.0	-	-	3784_1:43896743-43896743 C>T_LTLPLEVELPTALDPQHHRSTSESS
12:56231639-56231639 G>A	0.0	3784	MELANOMA	-	-	-	-	MMP19	NM_002429,p.H350Y|uc001sia.3,p.H64Y|ENST00000322569,p.H350Y|ENST00000548629,p.H327Y|ENST00000394182,p.H64Y|uc001sib.4,p.H350Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sib.4	nonsynonymous SNV	exon7	c.C1048T	p.H350Y	DAAVYSPRTQWIHFFKGDKVWRYIN	DAAVYSPRTQWIYFFKGDKVWRYIN	6.0	4.0	unscreened	-	3784_12:56231639-56231639 G>A_DAAVYSPRTQWIYFFKGDKVWRYIN
7:100211240-100211240 C>T	1.0	3784	MELANOMA	-	-	-	-	MOSPD3	uc003uvs.3,p.P141L|ENST00000223054,p.P141L|NM_001040098,p.P141L|uc003uvq.3,p.P141L|uc003uvt.3,p.P131L|NM_023948,p.P141L|NM_001040099,p.P131L|ENST00000493970,p.P141L|ENST00000393950,p.P141L|ENST00000424091,p.P131L|ENST00000379527,p.P141L|NM_001040097,p.P141L|uc003uvr.3,p.P141L	retained_intron, protein_coding, nonsense_mediated_decay	uc003uvt.3	nonsynonymous SNV	exon3	c.C392T	p.P131L	KDITSILRAPAYPLELQGQPDPAPR	KDITSILRAPAYLLELQGQPDPAPR	7.0	2.0	-	-	3784_7:100211240-100211240 C>T_KDITSILRAPAYLLELQGQPDPAPR
5:176024176-176024176 G>A	1.0	3784	MELANOMA	-	-	-	-	GPRIN1	NM_052899,p.P887L|uc021yif.1,p.P887L|uc003meo.1,p.P887L|ENST00000303991,p.P887L	protein_coding	uc021yif.1	nonsynonymous SNV	exon1	c.C2660T	p.P887L	PMTPQAAAPPAFPEVRVRPGSALAA	PMTPQAAAPPAFLEVRVRPGSALAA	5.0	8.0	-	-	3784_5:176024176-176024176 G>A_PMTPQAAAPPAFLEVRVRPGSALAA
8:144874059-144874059 G>A	1.0	3784	MELANOMA	-	-	-	-	SCRIB	ENST00000377533,p.S1480F|ENST00000320476,p.S1561F|uc003yzp.1,p.S1561F|NM_015356,p.S1561F|uc003yzn.1,p.S294F	retained_intron, protein_coding, processed_transcript	uc003yzp.1	nonsynonymous SNV	exon34	c.C4682T	p.S1561F	TPVEDLGPQTSTSPGRLSPDFAEEL	TPVEDLGPQTSTFPGRLSPDFAEEL	9.0	9.0	-	-	3784_8:144874059-144874059 G>A_TPVEDLGPQTSTFPGRLSPDFAEEL
17:78078816-78078816 C>T	1.0	3784	MELANOMA	-	-	-	-	GAA	NM_001079804,p.S144F|NM_000152,p.S144F|uc002jxo.3,p.S144F|uc002jxp.3,p.S144F|ENST00000577106,p.S144F|NM_001079803,p.S144F|ENST00000390015,p.S144F|ENST00000302262,p.S144F|ENST00000570803,p.S144F|uc002jxq.3,p.S144F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jxq.3	nonsynonymous SNV	exon2	c.C431T	p.S144F	SYPSYKLENLSSSEMGYTATLTRTT	SYPSYKLENLSSFEMGYTATLTRTT	8.0	4.0	-	-	3784_17:78078816-78078816 C>T_SYPSYKLENLSSFEMGYTATLTRTT
11:76912673-76912673 G>A	0.0	3784	MELANOMA	-	-	-	-	MYO7A	ENST00000409619,p.R1629Q|ENST00000409709,p.R1678Q|ENST00000458637,p.R1640Q|uc010rsm.1,p.R1629Q|uc001oyc.2,p.R1640Q|NM_000260,p.R1678Q|uc009yut.1,p.R850Q|uc001oyb.2,p.R1678Q|NM_001127180,p.R1640Q|ENST00000458169,p.R820Q	retained_intron, protein_coding, processed_transcript	uc010rsm.1	nonsynonymous SNV	exon37	c.G4886A	p.R1629Q	SVYVMPTVTMPPREIVALVTMTPDQ	SVYVMPTVTMPPQEIVALVTMTPDQ	6.0	1.0	unscreened	-	3784_11:76912673-76912673 G>A_SVYVMPTVTMPPQEIVALVTMTPDQ
1:15392253-15392253 C>T	1.0	3784	MELANOMA	-	-	-	-	KAZN	NM_001018000,p.T403I|uc001avo.2,p.T403I|NM_001018001,p.T315I|ENST00000422387,p.T409I|ENST00000400798,p.T315I|NM_001017999,p.T315I|uc009vog.1,p.T409I|uc001avp.2,p.T315I|NM_015209,p.T409I|uc001avq.2,p.T315I|ENST00000503743,p.T409I|ENST00000400797,p.T315I|ENST00000361144,p.T403I	retained_intron, protein_coding	uc009vog.1	nonsynonymous SNV	exon8	c.C1226T	p.T409I	QRKSLDPGLFDGTAPDYYIEEDADW	QRKSLDPGLFDGIAPDYYIEEDADW	8.0	2.0	-	-	3784_1:15392253-15392253 C>T_QRKSLDPGLFDGIAPDYYIEEDADW
3:142241623-142241623 G>A	1.0	3784	MELANOMA	-	-	-	1	ATR	uc003eux.4,p.L1405F|ENST00000350721,p.L1405F|NM_001184,p.L1405F|ENST00000383101,p.L1341F	retained_intron, protein_coding, nonsense_mediated_decay	uc003eux.4	nonsynonymous SNV	exon23	c.C4213T	p.L1405F	AYGLLMELTRAYLAYADNSRAQDSA	AYGLLMELTRAYFAYADNSRAQDSA	7.0	6.0	-	-	3784_3:142241623-142241623 G>A_AYGLLMELTRAYFAYADNSRAQDSA
9:14801745-14801745 C>T	1.0	3784	MELANOMA	-	-	-	-	FREM1	NM_144966,p.G1200E|ENST00000380880,p.G1200E|ENST00000422223,p.G1200E|ENST00000380881,p.G1201E|uc003zlm.3,p.G1200E|ENST00000380875,p.G1200E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zlm.3	nonsynonymous SNV	exon21	c.G3599A	p.G1200E	TQKPRHGLLIDRGFSKDFSENKQPA	TQKPRHGLLIDREFSKDFSENKQPA	9.0	9.0	-	-	3784_9:14801745-14801745 C>T_TQKPRHGLLIDREFSKDFSENKQPA
7:138262326-138262326 C>T	1.0	3784	MELANOMA	-	-	-	1	TRIM24	NM_003852,p.P716L|uc003vuc.3,p.P750L|ENST00000415680,p.P716L|NM_015905,p.P750L|uc003vub.3,p.P716L|ENST00000343526,p.P750L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vuc.3	nonsynonymous SNV	exon14	c.C2249T	p.P750L	VIVKQESDEESRPQNANYPRSILTS	VIVKQESDEESRLQNANYPRSILTS	8.0	9.0	-	-	3784_7:138262326-138262326 C>T_VIVKQESDEESRLQNANYPRSILTS
11:73829336-73829336 G>A	1.0	3784	MELANOMA	-	-	-	-	C2CD3	ENST00000334126,p.S486L|NM_015531,p.S486L|uc001ouu.2,p.S486L|uc001ouv.2,p.S486L|ENST00000313663,p.S486L|NM_001286577,p.S486L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ouv.2	nonsynonymous SNV	exon9	c.C1457T	p.S486L	SKKISQSTALARSSKVLESSDHKLK	SKKISQSTALARLSKVLESSDHKLK	7.0	2.0	-	-	3784_11:73829336-73829336 G>A_SKKISQSTALARLSKVLESSDHKLK
6:42044887-42044887 C>T	1.0	3784	MELANOMA	-	-	-	-	TAF8	ENST00000494547,p.P318S|ENST00000372982,p.P318S|uc003ort.3,p.P318S|uc003oru.1,p.P318S	retained_intron, protein_coding, processed_transcript	uc003oru.1	nonsynonymous SNV	exon9	c.C952T	p.P318S	PRRRTPLSCSRTPPCRVAGMGRRTS	PRRRTPLSCSRTSPCRVAGMGRRTS	8.0	9.0	-	-	3784_6:42044887-42044887 C>T_PRRRTPLSCSRTSPCRVAGMGRRTS
19:41132916-41132916 C>T	1.0	3784	MELANOMA	-	-	-	-	LTBP4	ENST00000308370,p.P1407L|ENST00000204005,p.P1370L|ENST00000396819,p.P1340L|uc002ool.1,p.P420L|uc002ooj.1,p.P281L|uc002ook.1,p.P542L|uc010xvp.1,p.P168L|ENST00000545697,p.P775L	retained_intron, protein_coding, processed_transcript	uc010xvp.1	nonsynonymous SNV	exon6	c.C503T	p.P168L	DDFEALCNVLRPPAYSPPRPGGFGL	DDFEALCNVLRPLAYSPPRPGGFGL	9.0	2.0	-	-	3784_19:41132916-41132916 C>T_DDFEALCNVLRPLAYSPPRPGGFGL
4:75041082-75041082 C>T	1.0	3784	MELANOMA	-	-	-	-	MTHFD2L	ENST00000325278,p.P80L|ENST00000331145,p.P80L|ENST00000423607,p.P80L|uc003hhn.1,p.P80L|ENST00000359107,p.P80L|ENST00000429519,p.P80L|ENST00000395759,p.P138L|ENST00000429335,p.P80L|uc011cbj.2,p.P80L|uc011cbk.2,p.P138L|NM_001144978,p.P138L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cbk.2	nonsynonymous SNV	exon3	c.C413T	p.P138L	ELLDVTDQLNMDPRVSGILVQLPLP	ELLDVTDQLNMDLRVSGILVQLPLP	7.0	5.0	-	-	3784_4:75041082-75041082 C>T_ELLDVTDQLNMDLRVSGILVQLPLP
10:33496571-33496571 C>T	0.0	3784	MELANOMA	-	-	-	-	NRP1	ENST00000374822,p.R563K|uc001iwz.2,p.R563K|ENST00000374875,p.R382K|uc001iww.4,p.R382K|NM_001024629,p.R563K|ENST00000374867,p.R563K|NM_003873,p.R563K|NM_001024628,p.R563K|uc001ixb.2,p.R563K|ENST00000374821,p.R563K|ENST00000395995,p.R563K|ENST00000374823,p.R563K|ENST00000265371,p.R563K|NM_001244973,p.R563K|uc009xlz.3,p.R563K|uc001iwy.4,p.R563K|uc001iwx.4,p.R563K|uc001ixa.2,p.R563K|NM_001244972,p.R563K|ENST00000374816,p.R563K|uc001iwv.4,p.R563K	protein_coding, processed_transcript	uc009xlz.3	nonsynonymous SNV	exon10	c.G1688A	p.R563K	LRTFPALSTRFIRIYPERATHGGLG	LRTFPALSTRFIKIYPERATHGGLG	10.0	9.0	unscreened	-	3784_10:33496571-33496571 C>T_LRTFPALSTRFIKIYPERATHGGLG
6:33424102-33424102 C>T	1.0	3784	MELANOMA	-	-	-	-	ZBTB9	ENST00000395064,p.R409W|NM_152735,p.R409W|uc021ywp.1,p.R409W|uc003oeq.3,p.R409W	protein_coding, processed_transcript	uc021ywp.1	nonsynonymous SNV	exon1	c.C1225T	p.R409W	KRDRHIMLTFSLRPFGCGICNKRFK	KRDRHIMLTFSLWPFGCGICNKRFK	6.0	2.0	-	-	3784_6:33424102-33424102 C>T_KRDRHIMLTFSLWPFGCGICNKRFK
16:1573550-1573550 C>T	1.0	3784	MELANOMA	-	-	-	-	IFT140	ENST00000426508,p.R1141K|uc002clz.3,p.R754K|uc002cmb.3,p.R1141K|NM_014714,p.R1141K|ENST00000361339,p.R335K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002cmb.3	nonsynonymous SNV	exon26	c.G3422A	p.R1141K	CSDFFIEHSQYERAVELLLAARKYQ	CSDFFIEHSQYEKAVELLLAARKYQ	6.0	1.0	-	-	3784_16:1573550-1573550 C>T_CSDFFIEHSQYEKAVELLLAARKYQ
11:9868601-9868601 G>A	0.0	3784	MELANOMA	-	-	-	-	SBF2	uc001mif.3,p.P702S|ENST00000256190,p.P946S|uc001mib.2,p.P946S|NM_030962,p.P946S	retained_intron, protein_coding, processed_transcript	uc001mif.3	nonsynonymous SNV	exon22	c.C2104T	p.P702S	QLVGEQTVVRSFPIASITKEKKITM	QLVGEQTVVRSFSIASITKEKKITM	8.0	9.0	unscreened	-	3784_11:9868601-9868601 G>A_QLVGEQTVVRSFSIASITKEKKITM
1:77094328-77094328 C>T	1.0	3784	MELANOMA	-	-	-	-	ST6GALNAC3	uc010orh.1,p.P151L	protein_coding, processed_transcript	uc010orh.1	nonsynonymous SNV	exon3	c.C452T	p.P151L	TGKDRTEGYRKVPYHYYEQGRDECD	TGKDRTEGYRKVLYHYYEQGRDECD	5.0	2.0	-	-	3784_1:77094328-77094328 C>T_TGKDRTEGYRKVLYHYYEQGRDECD
9:131847555-131847555 C>T	1.0	3784	MELANOMA	-	-	-	-	DOLPP1	uc004bxd.3,p.S111F|ENST00000540102,p.S13F|NM_001135917,p.S111F|uc004bxc.3,p.S111F|ENST00000406974,p.S111F|NM_020438,p.S111F|ENST00000372546,p.S111F	protein_coding, processed_transcript, nonsense_mediated_decay	uc004bxd.3	nonsynonymous SNV	exon4	c.C332T	p.S111F	MPSSHSQFMWFFSVYSFLFLYLRMH	MPSSHSQFMWFFFVYSFLFLYLRMH	6.0	1.0	-	-	3784_9:131847555-131847555 C>T_MPSSHSQFMWFFFVYSFLFLYLRMH
11:20982103-20982103 G>A	1.0	3784	MELANOMA	-	-	-	-	NELL1	ENST00000298925,p.E461K|ENST00000325319,p.E376K|uc001mqf.3,p.E433K|NM_001288713,p.E461K|uc010rdo.2,p.E376K|NM_201551,p.E433K|uc010rdp.2,p.E193K|NM_001288714,p.E376K|NM_006157,p.E433K|ENST00000532434,p.E433K|uc001mqe.3,p.E433K|ENST00000357134,p.E433K|uc009yid.3,p.E461K	retained_intron, protein_coding, processed_transcript	uc010rdp.2	nonsynonymous SNV	exon9	c.G577A	p.E193K	GYISVQGDSAYCEDIDECAAKMHYC	GYISVQGDSAYCKDIDECAAKMHYC	10.0	1.0	-	-	3784_11:20982103-20982103 G>A_GYISVQGDSAYCKDIDECAAKMHYC
5:149500867-149500867 C>T	0.0	3784	MELANOMA	-	-	-	1	PDGFRB	ENST00000261799,p.R788Q|uc003lro.3,p.R788Q|NM_002609,p.R788Q|uc010jhd.3,p.R627Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jhd.3	nonsynonymous SNV	exon17	c.G1880A	p.R627Q	DNYVPSAPERTCRATLINESPVLSY	DNYVPSAPERTCQATLINESPVLSY	9.0	3.0	unscreened	-	3784_5:149500867-149500867 C>T_DNYVPSAPERTCQATLINESPVLSY
19:41132916-41132916 C>T	1.0	3784	MELANOMA	-	-	-	-	LTBP4	uc002oog.1,p.P1370L|uc002ooi.1,p.P1340L|uc002ooh.1,p.P1407L	retained_intron, protein_coding, processed_transcript	uc002ooi.1	nonsynonymous SNV	exon29	c.C4019T	p.P1340L	SDDFEALCNVLRPPAYSPPRPGGFG	SDDFEALCNVLRLPAYSPPRPGGFG	9.0	2.0	unscreened	-	3784_19:41132916-41132916 C>T_SDDFEALCNVLRLPAYSPPRPGGFG
1:77094328-77094328 C>T	1.0	3784	MELANOMA	-	-	-	-	ST6GALNAC3	uc001dhh.2,p.P252L|NM_152996,p.P252L|ENST00000328299,p.P252L	protein_coding, processed_transcript	uc001dhh.2	nonsynonymous SNV	exon5	c.C755T	p.P252L	DTYCKTEGYRKVPYHYYEQGRDECD	DTYCKTEGYRKVLYHYYEQGRDECD	5.0	2.0	-	-	3784_1:77094328-77094328 C>T_DTYCKTEGYRKVLYHYYEQGRDECD
1:24021179-24021181 CTT>-	1.0	3784	MELANOMA	-	-	-	-	RPL11	uc001bhl.3,p.97_98del|uc001bhk.3,p.98_99del|NM_000975,p.98_99del|ENST00000443624,p.96_97del|ENST00000458455,p.96_97del|NM_001199802,p.97_98del|ENST00000374550,p.98_99del	protein_coding, processed_transcript	uc001bhl.3	nonframeshift deletion	exon4	c.291_293del	p.97_98del	GLKVREYELRKNNFSDTGNFGFGIQ	GLKVREYELRKNNSDTGNFGFGIQE	10.0	8.0	-	-	3784_1:24021179-24021181 CTT>-_GLKVREYELRKNNSDTGNFGFGIQE
14:105739171-105739171 G>A	1.0	3784	MELANOMA	-	-	-	-	BRF1	uc001yqp.2,p.T109I|NM_001242790,p.T109I|NM_001519,p.T109I|uc010axg.1,p.T82I|uc001yqr.3,p.T109I|ENST00000379937,p.T82I|NM_001242788,p.T82I|ENST00000548421,p.T109I|ENST00000546474,p.T109I	retained_intron, protein_coding, processed_transcript	uc010axg.1	nonsynonymous SNV	exon2	c.C245T	p.T82I	GNQLQLNQHCLDTAFNFFKMAVSRH	GNQLQLNQHCLDIAFNFFKMAVSRH	8.0	4.0	-	-	3784_14:105739171-105739171 G>A_GNQLQLNQHCLDIAFNFFKMAVSRH
7:99032559-99032559 G>A	1.0	3784	MELANOMA	0.01	-	-	-	ATP5J2-PTCD1,PTCD1	NM_001198879,p.R152C|ENST00000413834,p.R152C|uc003uqh.3,p.R103C|NM_015545,p.R103C|ENST00000430029,p.R103C|uc011kiw.2,p.R152C|ENST00000430982,p.R103C|ENST00000292478,p.R103C|ENST00000555673,p.R152C	protein_coding, processed_transcript, nonsense_mediated_decay	uc011kiw.2	nonsynonymous SNV	exon3	c.C454T	p.R152C	TLSDKYSSRRLFRKSAAQFHNLRFG	TLSDKYSSRRLFCKSAAQFHNLRFG	7.0	9.0	unscreened	-	3784_7:99032559-99032559 G>A_TLSDKYSSRRLFCKSAAQFHNLRFG
13:46543375-46543375 G>A	1.0	3784	MELANOMA	-	-	-	-	ZC3H13	uc010tfw.1,p.P1102S|ENST00000242848,p.P1102S|NM_015070,p.P1102S|ENST00000378921,p.P58S|uc001vat.1,p.P1102S|ENST00000282007,p.P1102S|uc001vas.1,p.P1102S	protein_coding, processed_transcript	uc010tfw.1	nonsynonymous SNV	exon13	c.C3304T	p.P1102S	PGSTPSPLSSLLPPPPPVATATATT	PGSTPSPLSSLLSPPPPVATATATT	8.0	10.0	-	-	3784_13:46543375-46543375 G>A_PGSTPSPLSSLLSPPPPVATATATT
20:33080354-33080354 G>A	1.0	3784	MELANOMA	-	-	-	-	ITCH	uc010geu.2,p.V831I|ENST00000262650,p.V831I|NM_001257137,p.V831I|ENST00000374864,p.V790I|ENST00000535650,p.V680I|NM_001257138,p.V680I|NM_031483,p.V790I|uc002xak.3,p.V790I|uc010zuj.2,p.V680I	protein_coding, processed_transcript	uc010zuj.2	nonsynonymous SNV	exon22	c.G2038A	p.V680I	IDNEKRMRLLQFVTGTCRLPVGGFA	IDNEKRMRLLQFITGTCRLPVGGFA	10.0	6.0	-	-	3784_20:33080354-33080354 G>A_IDNEKRMRLLQFITGTCRLPVGGFA
5:865561-865561 G>A	1.0	3784	MELANOMA	-	-	-	-	BRD9	uc011cmb.2,p.S501F|uc003jbq.3,p.S554F|uc003jbo.3,p.S458F|ENST00000483173,p.S501F|NM_001009877,p.S501F|ENST00000467963,p.S554F|NM_023924,p.S554F|ENST00000388890,p.S438F|ENST00000323510,p.S458F|uc003jbl.3,p.S438F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cmb.2	nonsynonymous SNV	exon15	c.C1502T	p.S501F	GGSRPSSNLSSLSNASERDQHHLGS	GGSRPSSNLSSLFNASERDQHHLGS	8.0	3.0	-	-	3784_5:865561-865561 G>A_GGSRPSSNLSSLFNASERDQHHLGS
4:103527753-103527753 C>T	1.0	3784	MELANOMA	-	-	-	-	NFKB1	uc011cer.2,p.S437F|ENST00000505458,p.S617F|NM_003998,p.S618F|NM_001165412,p.S617F|uc011ceq.2,p.S617F|uc011cep.2,p.S618F|ENST00000394820,p.S617F|ENST00000226574,p.S618F|ENST00000600343,p.S437F	retained_intron, protein_coding, processed_transcript	uc011cer.2	nonsynonymous SNV	exon10	c.C1310T	p.S437F	GADLSLLDRLGNSVLHLAAKEGHDK	GADLSLLDRLGNFVLHLAAKEGHDK	8.0	7.0	-	-	3784_4:103527753-103527753 C>T_GADLSLLDRLGNFVLHLAAKEGHDK
17:34199302-34199302 G>A	0.0	3784	MELANOMA	-	-	-	-	CCL5	NM_001278736,p.P146L	protein_coding	NM_001278736	nonsynonymous SNV	exon4	c.C437T	p.P146L	FLLALVLAWEASPHYPTPPAP	FLLALVLAWEASLHYPTPPAP	9.0	2.0	unscreened	-	3784_17:34199302-34199302 G>A_FLLALVLAWEASLHYPTPPAP
2:158287126-158287126 C>T	0.0	3784	MELANOMA	-	-	-	-	CYTIP	uc002tzj.1,p.G141S|ENST00000264192,p.G141S|uc010zcl.1,p.G35S|NM_004288,p.G141S|ENST00000418920,p.G35S|ENST00000540637,p.G35S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zcl.1	nonsynonymous SNV	exon8	c.G103A	p.G35S	DVLANINGVSTEGFTYKQVVDLIRS	DVLANINGVSTESFTYKQVVDLIRS	7.0	8.0	unscreened	-	3784_2:158287126-158287126 C>T_DVLANINGVSTESFTYKQVVDLIRS
14:102675789-102675789 C>T	1.0	3784	MELANOMA	-	-	-	-	WDR20	ENST00000335263,p.P428S|ENST00000556807,p.P367S|ENST00000454394,p.P459S|ENST00000556511,p.P367S|uc001ylf.3,p.P440S|NM_001242418,p.P440S|NM_001242416,p.P367S|uc010txu.2,p.P459S|uc001ylb.3,p.P367S|uc001yle.3,p.P367S|NM_181291,p.P428S|NM_181308,p.P367S|ENST00000499851,p.P171S|NM_001242417,p.P459S|ENST00000342702,p.P428S|uc001yld.3,p.P428S|uc001ykz.3,p.P428S|ENST00000545563,p.P255S|ENST00000424963,p.P304S|NM_144574,p.P428S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010txu.2	nonsynonymous SNV	exon4	c.C1375T	p.P459S	NSVTTPGNSVPPPLPRSNSLPHSAV	NSVTTPGNSVPPSLPRSNSLPHSAV	8.0	2.0	-	-	3784_14:102675789-102675789 C>T_NSVTTPGNSVPPSLPRSNSLPHSAV
X:7268144-7268144 G>A	1.0	3784	MELANOMA	-	-	-	-	STS	NM_000351,p.E532K|ENST00000217961,p.E532K|uc004cry.4,p.E532K	protein_coding	uc004cry.4	nonsynonymous SNV	exon10	c.G1594A	p.E532K	EPRFYEILKVMQEAADRHTQTLPEV	EPRFYEILKVMQKAADRHTQTLPEV	5.0	10.0	-	-	3784_X:7268144-7268144 G>A_EPRFYEILKVMQKAADRHTQTLPEV
2:73676325-73676325 C>T	1.0	3784	MELANOMA	-	-	-	-	ALMS1	uc002sjg.3,p.P278S|ENST00000264448,p.P890S|uc002sjf.1,p.P848S|ENST00000377715,p.P890S|ENST00000409009,p.P848S|uc002sjh.1,p.P278S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002sjh.1	nonsynonymous SNV	exon1	c.C832T	p.P278S	HLTEEALKVSIVPGPGDQKTGIPSA	HLTEEALKVSIVSGPGDQKTGIPSA	6.0	8.0	unscreened	-	3784_2:73676325-73676325 C>T_HLTEEALKVSIVSGPGDQKTGIPSA
4:159154118-159154118 C>T	1.0	3784	MELANOMA	-	-	-	-	TMEM144	ENST00000511532,p.P160L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000511532	nonsynonymous SNV	exon7	c.C479T	p.P160L	EIPNNTCSMDTTPLITEHGLQSCSD	EIPNNTCSMDTTLLITEHGLQSCSD	6.0	5.0	-	-	3784_4:159154118-159154118 C>T_EIPNNTCSMDTTLLITEHGLQSCSD
16:85695264-85695264 G>A	1.0	3784	MELANOMA	-	-	-	-	GSE1	NM_001134473,p.R614Q|ENST00000405402,p.R614Q|uc002fix.4,p.R718Q|ENST00000393243,p.R645Q|ENST00000253458,p.R718Q|NM_001278184,p.R645Q|NM_014615,p.R718Q|uc002fiy.4,p.R645Q|uc002fiw.3,p.R614Q	retained_intron, protein_coding, processed_transcript	uc002fiy.4	nonsynonymous SNV	exon8	c.G1934A	p.R645Q	LKPGSPYRPPVPRAPDPAYIYDEFL	LKPGSPYRPPVPQAPDPAYIYDEFL	9.0	6.0	-	-	3784_16:85695264-85695264 G>A_LKPGSPYRPPVPQAPDPAYIYDEFL
11:70266608-70266608 C>T	1.0	3784	MELANOMA	-	-	-	-	CTTN	uc001opw.4,p.S261F|ENST00000346329,p.S261F|NM_001184740,p.S261F|NM_138565,p.S261F|uc001opu.3,p.S261F|ENST00000376561,p.S261F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001opw.4	nonsynonymous SNV	exon10	c.C782T	p.S261F	GWDHQEKLQLHESQKDYSKGFGGKY	GWDHQEKLQLHEFQKDYSKGFGGKY	10.0	7.0	-	-	3784_11:70266608-70266608 C>T_GWDHQEKLQLHEFQKDYSKGFGGKY
4:159154118-159154118 C>T	1.0	3784	MELANOMA	-	-	-	-	TMEM144	uc003ipx.3,p.P160L|NM_018342,p.P160L|ENST00000296529,p.P160L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ipx.3	nonsynonymous SNV	exon7	c.C479T	p.P160L	EIPNNTCSMDTTPLITEHVINTTQD	EIPNNTCSMDTTLLITEHVINTTQD	6.0	5.0	-	-	3784_4:159154118-159154118 C>T_EIPNNTCSMDTTLLITEHVINTTQD
22:30735137-30735137 G>A	1.0	3784	MELANOMA	-	-	-	-	SF3A1	ENST00000411423,p.S32F	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000411423	nonsynonymous SNV	exon2	c.C95T	p.S32F	KQPLVRRSVRRRSRSQRKR	KQPLVRRSVRRRFRSQRKR	10.0	1.0	-	-	3784_22:30735137-30735137 G>A_KQPLVRRSVRRRFRSQRKR
10:38241783-38241783 G>A	1.0	3784	MELANOMA	-	-	-	-	ZNF25	uc001ize.1,p.P215S|uc001izf.1,p.P179S|ENST00000302609,p.P215S|NM_145011,p.P215S	protein_coding, processed_transcript	uc001izf.1	nonsynonymous SNV	exon7	c.C535T	p.P179S	ECNQCEKSFYQKPHLTEHQKTHTGE	ECNQCEKSFYQKSHLTEHQKTHTGE	6.0	4.0	-	-	3784_10:38241783-38241783 G>A_ECNQCEKSFYQKSHLTEHQKTHTGE
13:48654103-48654103 G>A	1.0	3784	MELANOMA	-	-	-	-	MED4	uc010tgf.2,p.R127W|NM_014166,p.R173W|ENST00000417167,p.R151W|ENST00000258648,p.R173W|NM_001270629,p.R127W|uc001vby.2,p.R173W|ENST00000378586,p.R127W	protein_coding, processed_transcript	uc010tgf.2	nonsynonymous SNV	exon6	c.C379T	p.R127W	VCAPLTWVPGDPRRPYPTDLEMRSG	VCAPLTWVPGDPWRPYPTDLEMRSG	9.0	9.0	-	-	3784_13:48654103-48654103 G>A_VCAPLTWVPGDPWRPYPTDLEMRSG
4:159154118-159154118 C>T	1.0	3784	MELANOMA	-	-	-	-	TMEM144	ENST00000514558,p.P160L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000514558	nonsynonymous SNV	exon6	c.C479T	p.P160L	EIPNNTCSMDTTPLITEHVSIV	EIPNNTCSMDTTLLITEHVSIV	6.0	5.0	-	-	3784_4:159154118-159154118 C>T_EIPNNTCSMDTTLLITEHVSIV
1:51775057-51775057 G>A	0.0	3784	MELANOMA	-	-	-	-	TTC39A	NM_001297662,p.P157S|ENST00000380849,p.P130S|uc001cso.1,p.P154S|NM_001297665,p.P158S|ENST00000447632,p.P158S|ENST00000262676,p.P154S|ENST00000371747,p.P157S|uc001csl.3,p.P158S|uc001csn.3,p.P157S	protein_coding, processed_transcript	uc001cso.1	nonsynonymous SNV	exon6	c.C460T	p.P154S	HGGAVRPRALHDPSHACSCPPGPGR	HGGAVRPRALHDSSHACSCPPGPGR	8.0	8.0	unscreened	-	3784_1:51775057-51775057 G>A_HGGAVRPRALHDSSHACSCPPGPGR
6:136599034-136599034 C>T	0.0	3784	MELANOMA	-	-	-	2	BCLAF1	ENST00000527759,p.E327K|ENST00000533621,p.E70K|uc003qgx.1,p.E329K|uc003qgy.1,p.E327K|ENST00000527613,p.E329K|ENST00000532384,p.E329K|uc011ede.1,p.E327K|NM_001077440,p.E327K|ENST00000529826,p.E329K|NM_001301038,p.E327K|NM_014739,p.E329K|ENST00000527536,p.E329K|ENST00000353331,p.E327K|ENST00000392348,p.E327K|ENST00000530429,p.E327K|ENST00000531224,p.E329K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ede.1	nonsynonymous SNV	exon4	c.G979A	p.E327K	GRSSFYPDGGDQETAKTGKFLKRFT	GRSSFYPDGGDQKTAKTGKFLKRFT	10.0	1.0	unscreened	-	3784_6:136599034-136599034 C>T_GRSSFYPDGGDQKTAKTGKFLKRFT
X:153581450-153581450 G>A	1.0	3784	MELANOMA	-	-	-	2	FLNA	ENST00000369856,p.R182C|ENST00000444578,p.R30C|ENST00000360319,p.R2041C|ENST00000344736,p.R2009C|uc011mzn.1,p.R182C|ENST00000422373,p.R2041C|uc010nuu.1,p.R2041C|ENST00000369850,p.R2049C|NM_001456,p.R2041C|uc004fkk.2,p.R2049C|NM_001110556,p.R2049C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011mzn.1	nonsynonymous SNV	exon9	c.C544T	p.R182C	VVISQSEIGDASRVRVSGQGLHEGH	VVISQSEIGDASCVRVSGQGLHEGH	10.0	10.0	-	-	3784_X:153581450-153581450 G>A_VVISQSEIGDASCVRVSGQGLHEGH
1:22965590-22965590 C>T	0.0	3784	MELANOMA	-	-	-	-	C1QA	ENST00000402322,p.P143L|uc001bfy.3,p.P143L|NM_015991,p.P143L|ENST00000374642,p.P143L|ENST00000438241,p.P143L	protein_coding	uc001bfy.3	nonsynonymous SNV	exon3	c.C428T	p.P143L	VIFDTVITNQEEPYQNHSGRFVCTV	VIFDTVITNQEELYQNHSGRFVCTV	10.0	7.0	unscreened	-	3784_1:22965590-22965590 C>T_VIFDTVITNQEELYQNHSGRFVCTV
3:48612909-48612909 C>T	0.0	3784	MELANOMA	-	-	-	-	COL7A1	uc003ctz.2,p.G2015R|NM_000094,p.G2015R|ENST00000328333,p.G2015R|ENST00000454817,p.G1983R	retained_intron, protein_coding, processed_transcript	uc003ctz.2	nonsynonymous SNV	exon73	c.G6043A	p.G2015R	GLKGDRGDPGPQGPPGLALGERGPP	GLKGDRGDPGPQRPPGLALGERGPP	5.0	1.0	unscreened	-	3784_3:48612909-48612909 C>T_GLKGDRGDPGPQRPPGLALGERGPP
7:133160167-133160167 G>A	1.0	3784	MELANOMA	-	-	-	-	EXOC4	NM_021807,p.R423Q|ENST00000393161,p.R423Q|uc011kpo.2,p.R322Q|ENST00000539845,p.R322Q|uc003vri.3,p.R423Q|ENST00000253861,p.R423Q|uc003vrk.3,p.R423Q|uc003vrj.3,p.R423Q|NM_001037126,p.R423Q	retained_intron, protein_coding, processed_transcript	uc011kpo.2	nonsynonymous SNV	exon8	c.G965A	p.R322Q	EPSAQLSYASTGREFAAFFAKKKPQ	EPSAQLSYASTGQEFAAFFAKKKPQ	10.0	9.0	-	-	3784_7:133160167-133160167 G>A_EPSAQLSYASTGQEFAAFFAKKKPQ
2:73676326-73676326 C>T	1.0	3784	MELANOMA	-	-	-	-	ALMS1	uc002sjg.3,p.P278L|ENST00000409009,p.P848L|ENST00000264448,p.P890L|uc002sjh.1,p.P278L|ENST00000377715,p.P890L|uc002sjf.1,p.P848L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002sjh.1	nonsynonymous SNV	exon1	c.C833T	p.P278L	HLTEEALKVSIVPGPGDQKTGIPSA	HLTEEALKVSIVLGPGDQKTGIPSA	6.0	8.0	unscreened	-	3784_2:73676326-73676326 C>T_HLTEEALKVSIVLGPGDQKTGIPSA
2:170592327-170592327 C>T	1.0	3784	MELANOMA	-	-	-	-	KLHL23,PHOSPHO2-KLHL23	ENST00000437875,p.S89F|NM_144711,p.S268F|ENST00000392647,p.S268F|uc002ufi.2,p.S268F|ENST00000272797,p.S268F|uc002ufh.2,p.S268F|NM_001199290,p.S268F	retained_intron, protein_coding, processed_transcript	uc002ufi.2	nonsynonymous SNV	exon2	c.C803T	p.S268F	IYNALNPMHKEISQRSTATMYIIGG	IYNALNPMHKEIFQRSTATMYIIGG	6.0	2.0	-	-	3784_2:170592327-170592327 C>T_IYNALNPMHKEIFQRSTATMYIIGG
11:70266608-70266608 C>T	1.0	3784	MELANOMA	-	-	-	-	CTTN	uc001opv.4,p.S261F|NM_005231,p.S261F|ENST00000301843,p.S261F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001opv.4	nonsynonymous SNV	exon10	c.C782T	p.S261F	GWDHQEKLQLHESQKDYKTGFGGKF	GWDHQEKLQLHEFQKDYKTGFGGKF	10.0	7.0	-	-	3784_11:70266608-70266608 C>T_GWDHQEKLQLHEFQKDYKTGFGGKF
11:58480338-58480338 G>A	0.0	3784	MELANOMA	-	-	-	-	GLYAT	ENST00000278400,p.H71Y|ENST00000529732,p.H71Y|uc001nnb.3,p.H71Y|NM_005838,p.H71Y|NM_201648,p.H71Y|uc001nnc.3,p.H71Y|ENST00000344743,p.H71Y	retained_intron, protein_coding	uc001nnc.3	nonsynonymous SNV	exon4	c.C211T	p.H71Y	CPQEQDMTDDLDHYTNTYQIYSKDP	CPQEQDMTDDLDYYTNTYQIYSKDP	1.0	3.0	unscreened	-	3784_11:58480338-58480338 G>A_CPQEQDMTDDLDYYTNTYQIYSKDP
11:55658785-55658785 C>T	1.0	3784	MELANOMA	-	-	ID=COSM1298151,COSM1298150;OCCURENCE=1(urinary_tract)	-	TRIM51	uc010riq.2,p.H203Y|ENST00000449290,p.H346Y|NM_032681,p.H346Y|uc010rip.2,p.H346Y|ENST00000244891,p.H203Y	protein_coding	uc010riq.2	nonsynonymous SNV	exon5	c.C607T	p.H203Y	QAFTSGKYYWEVHMGDSWNWAFGVC	QAFTSGKYYWEVYMGDSWNWAFGVC	4.0	9.0	-	-	3784_11:55658785-55658785 C>T_QAFTSGKYYWEVYMGDSWNWAFGVC
11:76255567-76255567 C>T	1.0	3784	MELANOMA	-	-	-	-	C11orf30	uc010rsc.2,p.P993S|ENST00000525919,p.P993S|ENST00000532719,p.P132S|uc001oxo.1,p.P346S|NM_001300942,p.P1007S|NM_001300944,p.P993S|uc001oxn.3,p.P993S|NM_001300943,p.P993S|uc010rsd.2,p.P901S|ENST00000343878,p.P992S|ENST00000529032,p.P992S|uc001oxp.3,p.P92S|uc010rsb.2,p.P1007S|uc010rse.2,p.P239S|ENST00000533248,p.P901S|ENST00000525038,p.P993S|NM_020193,p.P992S|ENST00000334736,p.P992S|ENST00000524767,p.P1007S|uc001oxm.3,p.P894S|ENST00000524490,p.P894S|uc001oxl.3,p.P992S	retained_intron, protein_coding, processed_transcript	uc010rse.2	nonsynonymous SNV	exon4	c.C715T	p.P239S	IHLQADQLQHKLPQMPQLSIRHQKL	IHLQADQLQHKLSQMPQLSIRHQKL	8.0	3.0	unscreened	-	3784_11:76255567-76255567 C>T_IHLQADQLQHKLSQMPQLSIRHQKL
9:137657570-137657570 C>T	0.0	3784	MELANOMA	-	-	-	-	COL5A1	uc031tfl.1,p.P693L|NM_001278074,p.P693L|ENST00000371817,p.P693L|uc004cfe.4,p.P693L|NM_000093,p.P693L	retained_intron, protein_coding, processed_transcript	uc031tfl.1	nonsynonymous SNV	exon21	c.C2078T	p.P693L	RGLLGPKGPPGPPGPPGVTGMDGQP	RGLLGPKGPPGPLGPPGVTGMDGQP	9.0	3.0	unscreened	-	3784_9:137657570-137657570 C>T_RGLLGPKGPPGPLGPPGVTGMDGQP
12:112924330-112924330 C>T	1.0	3784	MELANOMA	-	-	-	1	PTPN11	ENST00000351677,p.H426Y|NM_080601,p.H426Y|uc001ttw.1,p.H426Y|NM_002834,p.H426Y|ENST00000392597,p.H426Y|uc001ttx.3,p.H426Y	protein_coding, processed_transcript	uc001ttx.3	nonsynonymous SNV	exon11	c.C1276T	p.H426Y	TVWQYHFRTWPDHGVPSDPGGVLDF	TVWQYHFRTWPDYGVPSDPGGVLDF	9.0	2.0	-	-	3784_12:112924330-112924330 C>T_TVWQYHFRTWPDYGVPSDPGGVLDF
11:76255568-76255568 C>T	1.0	3784	MELANOMA	-	-	-	-	C11orf30	uc001oxn.3,p.P993L|uc010rsb.2,p.P1007L|uc001oxm.3,p.P894L|ENST00000533248,p.P901L|ENST00000525038,p.P993L|ENST00000525919,p.P993L|uc010rsc.2,p.P993L|ENST00000524490,p.P894L|uc010rse.2,p.P239L|uc010rsd.2,p.P901L|NM_020193,p.P992L|NM_001300943,p.P993L|NM_001300944,p.P993L|ENST00000529032,p.P992L|ENST00000524767,p.P1007L|uc001oxo.1,p.P346L|NM_001300942,p.P1007L|ENST00000343878,p.P992L|ENST00000334736,p.P992L|uc001oxp.3,p.P92L|ENST00000532719,p.P132L|uc001oxl.3,p.P992L	retained_intron, protein_coding, processed_transcript	uc010rse.2	nonsynonymous SNV	exon4	c.C716T	p.P239L	IHLQADQLQHKLPQMPQLSIRHQKL	IHLQADQLQHKLLQMPQLSIRHQKL	8.0	3.0	unscreened	-	3784_11:76255568-76255568 C>T_IHLQADQLQHKLLQMPQLSIRHQKL
17:68172298-68172298 C>T	0.0	3784	MELANOMA	-	-	-	-	KCNJ2	NM_000891,p.S373L|ENST00000535240,p.S373L|uc002jir.3,p.S373L|ENST00000243457,p.S373L|uc010dfg.3,p.S373L|uc021ucj.1,p.S373L	protein_coding	uc021ucj.1	nonsynonymous SNV	exon1	c.C1118T	p.S373L	LAEKKYILSNANSFCYENEVALTSK	LAEKKYILSNANLFCYENEVALTSK	5.0	8.0	unscreened	-	3784_17:68172298-68172298 C>T_LAEKKYILSNANLFCYENEVALTSK
3:196613559-196613559 C>T	1.0	3784	MELANOMA	-	-	-	-	SENP5	uc003fwz.4,p.L503F|ENST00000323460,p.L503F|NM_152699,p.L503F|uc011bty.2,p.L503F|ENST00000445299,p.L503F	retained_intron, protein_coding, processed_transcript	uc011bty.2	nonsynonymous SNV	exon2	c.C1507T	p.L503F	ASPVDDEQLSVCLSGFLDEVMKKYG	ASPVDDEQLSVCFSGFLDEVMKKYG	8.0	6.0	-	-	3784_3:196613559-196613559 C>T_ASPVDDEQLSVCFSGFLDEVMKKYG
7:140453136-140453136 A>T	1.0	3784	MELANOMA	-	-	ID=COSM476;OCCURENCE=3(adrenal_gland),3(urinary_tract),4(genital_tract),7(pancreas),16(liver),68(eye),2(prostate),4161(large_intestine),21(biliary_tract),11(breast),4377(skin),9(small_intestine),1(autonomic_ganglia),20(pituitary),242(ovary),32(soft_tissue),7(testis),459(haematopoietic_and_lymphoid_tissue),9534(thyroid),78(lung),1(meninges),12(upper_aerodigestive_tract),717(NS),15(bone),2(oesophagus),4(stomach),228(central_nervous_system)	1	BRAF	ENST00000479537,p.V28E|uc003vwc.4,p.V600E|NM_004333,p.V600E|ENST00000288602,p.V600E	retained_intron, protein_coding, nonsense_mediated_decay	uc003vwc.4	nonsynonymous SNV	exon15	c.T1799A	p.V600E	LTVKIGDFGLATVKSRWSGSHQFEQ	LTVKIGDFGLATEKSRWSGSHQFEQ	8.0	9.0	-	-	3784_7:140453136-140453136 A>T_LTVKIGDFGLATEKSRWSGSHQFEQ
12:47629874-47629874 C>T	0.0	3784	MELANOMA	-	-	ID=COSM222239;OCCURENCE=1(skin),2(NS)	-	PCED1B	ENST00000546455,p.S343F|uc021qxi.1,p.S343F|ENST00000432328,p.S343F|uc001rpq.3,p.S343F|NM_001281429,p.S343F|NM_138371,p.S343F|uc001rpn.3,p.S343F	protein_coding	uc021qxi.1	nonsynonymous SNV	exon1	c.C1028T	p.S343F	PRFPQGPPDACFSSDHTFQSDQFYC	PRFPQGPPDACFFSDHTFQSDQFYC	6.0	7.0	unscreened	-	3784_12:47629874-47629874 C>T_PRFPQGPPDACFFSDHTFQSDQFYC
5:140041903-140041903 C>T	1.0	3784	MELANOMA	-	-	-	-	IK	NM_006083,p.P555S|ENST00000417647,p.P555S|uc003lgq.3,p.P555S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003lgq.3	nonsynonymous SNV	exon20	c.C1663T	p.P555S	KKMEADGVEVKRPKY	KKMEADGVEVKRSKY	10.0	8.0	unscreened	-	3784_5:140041903-140041903 C>T_KKMEADGVEVKRSKY
22:32097691-32097691 G>A	1.0	3784	MELANOMA	-	-	ID=COSM109951;OCCURENCE=1(skin)	-	PRR14L	ENST00000397493,p.P2020S|ENST00000327423,p.P2020S|uc003alp.4,p.P2020S|uc003alo.2,p.P1819S|NM_173566,p.P2020S	protein_coding, processed_transcript, nonsense_mediated_decay	uc003alp.4	nonsynonymous SNV	exon7	c.C6058T	p.P2020S	KKVSQIRIRKTIPRPDPNLTPMGLP	KKVSQIRIRKTISRPDPNLTPMGLP	8.0	1.0	-	-	3784_22:32097691-32097691 G>A_KKVSQIRIRKTISRPDPNLTPMGLP
13:76378446-76378446 C>T	0.0	3784	MELANOMA	-	-	-	-	LMO7	ENST00000357063,p.S280L|ENST00000377499,p.S228L|NM_005358,p.S280L|ENST00000526202,p.S189L|ENST00000377534,p.S280L|ENST00000341547,p.S280L|uc010thw.2,p.S189L|uc001vjt.1,p.S228L|uc021rkq.1,p.S228L|uc010thv.2,p.S280L	retained_intron, protein_coding, processed_transcript	uc021rkq.1	nonsynonymous SNV	exon8	c.C683T	p.S228L	RGGREGFESDTDSEFTFKMQDYNKD	RGGREGFESDTDLEFTFKMQDYNKD	7.0	5.0	unscreened	-	3784_13:76378446-76378446 C>T_RGGREGFESDTDLEFTFKMQDYNKD
1:31898657-31898657 C>T	1.0	3784	MELANOMA	-	-	-	-	SERINC2	uc009vtw.1,p.L143F	protein_coding, processed_transcript	uc009vtw.1	nonsynonymous SNV	exon4	c.C427T	p.L143F	GLVLLRRRGLLPLHPHPAGAAHRLC	GLVLLRRRGLLPFHPHPAGAAHRLC	6.0	7.0	-	-	3784_1:31898657-31898657 C>T_GLVLLRRRGLLPFHPHPAGAAHRLC
1:113655142-113655142 C>T	0.0	3784	MELANOMA	-	-	-	-	LRIG2	ENST00000361127,p.R614C|NM_014813,p.R614C|uc009wgn.1,p.R511C|uc001edf.1,p.R614C	protein_coding, processed_transcript	uc009wgn.1	nonsynonymous SNV	exon15	c.C1531T	p.R511C	PSFLKTPMDLTIRTGAMARLECAAE	PSFLKTPMDLTICTGAMARLECAAE	8.0	5.0	unscreened	-	3784_1:113655142-113655142 C>T_PSFLKTPMDLTICTGAMARLECAAE
3:4703821-4703821 C>T	0.0	3784	MELANOMA	-	-	-	-	ITPR1	NM_001099952,p.S436F|ENST00000302640,p.S421F|ENST00000357086,p.S436F|uc003bqc.3,p.S421F|NM_002222,p.S421F|ENST00000423119,p.S436F|ENST00000443694,p.S421F|NM_001168272,p.S421F|ENST00000456211,p.S421F|uc021wsi.1,p.S436F|ENST00000354582,p.S436F|uc021wsj.1,p.S421F	retained_intron, protein_coding, processed_transcript	uc021wsj.1	nonsynonymous SNV	exon14	c.C1262T	p.S421F	KEDKEAFAIVPVSPAEVRDLDFAND	KEDKEAFAIVPVFPAEVRDLDFAND	7.0	6.0	unscreened	-	3784_3:4703821-4703821 C>T_KEDKEAFAIVPVFPAEVRDLDFAND
7:87529601-87529601 C>T	1.0	3784	MELANOMA	-	-	-	-	DBF4	uc011khf.1,p.P16L	retained_intron, protein_coding, nonsense_mediated_decay	uc011khf.1	nonsynonymous SNV	exon8	c.C47T	p.P16L	KELVVVHKKQEKPCSPFDVDKPSSM	KELVVVHKKQEKLCSPFDVDKPSSM	8.0	5.0	-	-	3784_7:87529601-87529601 C>T_KELVVVHKKQEKLCSPFDVDKPSSM
15:72551958-72551958 G>A	0.0	3784	MELANOMA	-	-	-	-	PARP6	ENST00000567440,p.S247F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000567440	nonsynonymous SNV	exon10	c.C740T	p.S247F	VTARTFPLWSMDSSFRS	VTARTFPLWSMDFSFRS	9.0	4.0	unscreened	-	3784_15:72551958-72551958 G>A_VTARTFPLWSMDFSFRS
2:234431882-234431882 G>A	0.0	3784	MELANOMA	-	-	-	-	USP40	uc010zmr.2,p.T723M|ENST00000251722,p.T711M|ENST00000450966,p.T723M|ENST00000427112,p.T711M|uc010zmt.1,p.T367M|NM_018218,p.T723M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zmt.1	nonsynonymous SNV	exon9	c.C1100T	p.T367M	GWTAIPKEDMRKTFREQGLRNGSSI	GWTAIPKEDMRKMFREQGLRNGSSI	8.0	1.0	unscreened	-	3784_2:234431882-234431882 G>A_GWTAIPKEDMRKMFREQGLRNGSSI
6:31657475-31657475 G>A	1.0	3784	MELANOMA	-	-	-	-	ABHD16A	uc011dny.2,p.P289S|uc003nvx.2,p.P103S|ENST00000375842,p.P103S|NM_021160,p.P322S|uc010jtc.2,p.P103S|ENST00000395952,p.P322S|ENST00000440843,p.P289S|uc011dnz.2,p.P103S|NM_001177515,p.P289S|uc003nvy.2,p.P322S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dnz.2	nonsynonymous SNV	exon14	c.C307T	p.P103S	WNHPGFAGSTGVPFPQNEANAMDVV	WNHPGFAGSTGVSFPQNEANAMDVV	8.0	1.0	-	-	3784_6:31657475-31657475 G>A_WNHPGFAGSTGVSFPQNEANAMDVV
17:42476851-42476851 G>A	1.0	3784	MELANOMA	-	-	-	-	GPATCH8	uc002igv.2,p.S787F|uc002igw.2,p.S865F|ENST00000591680,p.S865F|NM_001002909,p.S865F|ENST00000434000,p.S787F|uc010wiz.2,p.S787F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wiz.2	nonsynonymous SNV	exon9	c.C2360T	p.S787F	RSRSGRRHSSHRSSRRSYSSSSDAS	RSRSGRRHSSHRFSRRSYSSSSDAS	9.0	4.0	-	-	3784_17:42476851-42476851 G>A_RSRSGRRHSSHRFSRRSYSSSSDAS
19:46389013-46389013 G>A	1.0	3784	MELANOMA	-	-	-	-	IRF2BP1	ENST00000302165,p.S7F|NM_015649,p.S7F|uc002pds.1,p.S7F	protein_coding	uc002pds.1	nonsynonymous SNV	exon1	c.C20T	p.S7F	MASVQASRRQWCYLCDLPK	MASVQAFRRQWCYLCDLPK	5.0	5.0	-	-	3784_19:46389013-46389013 G>A_MASVQAFRRQWCYLCDLPK
5:141244218-141244218 C>T	0.0	3784	MELANOMA	-	-	-	-	PCDH1	uc011dbf.2,p.E538K|ENST00000394536,p.E560K|ENST00000456271,p.E548K|ENST00000287008,p.E560K|NM_032420,p.E560K|ENST00000357517,p.E571K|NM_002587,p.E560K|uc003llp.3,p.E560K|uc003llq.3,p.E560K|ENST00000536585,p.E538K|NM_001278615,p.E181K|NM_001278613,p.E576K	protein_coding, processed_transcript, nonsense_mediated_decay	uc011dbf.2	nonsynonymous SNV	exon3	c.G1612A	p.E538K	EPAAKGLFTISPETGEIQVKTSLDR	EPAAKGLFTISPKTGEIQVKTSLDR	7.0	8.0	unscreened	-	3784_5:141244218-141244218 C>T_EPAAKGLFTISPKTGEIQVKTSLDR
4:39313106-39313106 G>A	0.0	3784	MELANOMA	-	-	-	-	RFC1	ENST00000381897,p.P483S|uc003gtx.2,p.P483S|NM_001204747,p.P483S|ENST00000349703,p.P483S|NM_002913,p.P483S|ENST00000504554,p.P115S|uc003gty.2,p.P483S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gty.2	nonsynonymous SNV	exon12	c.C1447T	p.P483S	DEDGLLNLIRTMPGKKSKYEIAVET	DEDGLLNLIRTMSGKKSKYEIAVET	10.0	1.0	unscreened	-	3784_4:39313106-39313106 G>A_DEDGLLNLIRTMSGKKSKYEIAVET
5:140255250-140255250 C>T	0.0	3784	MELANOMA	-	-	-	-	PCDHA12	ENST00000398631,p.R65W|NM_018903,p.R65W|uc003lic.2,p.R65W|NM_031864,p.R65W|uc011daf.2,p.R65W	protein_coding	uc011daf.2	nonsynonymous SNV	exon1	c.C193T	p.R65W	GLELAELVPRLFRVASKRHGDLLEV	GLELAELVPRLFWVASKRHGDLLEV	1.0	6.0	unscreened	-	3784_5:140255250-140255250 C>T_GLELAELVPRLFWVASKRHGDLLEV
4:114278710-114278710 G>A	0.0	3784	MELANOMA	-	-	-	-	ANK2	ENST00000357077,p.G2979E|ENST00000264366,p.G2946E|NM_001148,p.G2979E|uc003ibe.4,p.G2979E|uc011cgb.1,p.G2994E	retained_intron, protein_coding, processed_transcript	uc011cgb.1	nonsynonymous SNV	exon39	c.G8981A	p.G2994E	PVEDVVVASSSSGTVLSKESNFEGQ	PVEDVVVASSSSETVLSKESNFEGQ	6.0	7.0	unscreened	-	3784_4:114278710-114278710 G>A_PVEDVVVASSSSETVLSKESNFEGQ
2:25851074-25851074 G>A	1.0	3784	MELANOMA	-	-	-	-	DTNB	uc002rgh.4,p.L110F|NM_183360,p.L110F|ENST00000407038,p.L110F|uc002rgl.4,p.L110F|ENST00000496972,p.L53F|uc002rgq.4,p.L110F|NM_021907,p.L110F|uc002rgk.4,p.L110F|NM_033147,p.L110F|ENST00000404103,p.L110F|uc031rns.1,p.L110F|NM_001256308,p.L53F|ENST00000349996,p.L110F|ENST00000398951,p.L110F|ENST00000406818,p.L110F|ENST00000405222,p.L110F|NM_001256303,p.L110F|ENST00000303659,p.L110F|NM_001256304,p.L110F|uc010yko.3,p.L53F|NM_033148,p.L110F|ENST00000407661,p.L110F|uc002rgi.4,p.L110F|ENST00000407186,p.L110F|uc002rgr.1,p.L99F|NM_183361,p.L110F|ENST00000288642,p.L110F|uc002rgj.4,p.L110F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rns.1	nonsynonymous SNV	exon3	c.C328T	p.L110F	STHQISVEQSISLLLNFMIAAYDSE	STHQISVEQSISFLLNFMIAAYDSE	6.0	7.0	-	-	3784_2:25851074-25851074 G>A_STHQISVEQSISFLLNFMIAAYDSE
2:135621058-135621058 G>A	0.0	3784	MELANOMA	-	-	-	-	ACMSD	ENST00000392928,p.G57R|uc002ttz.3,p.G115R|ENST00000283054,p.G57R|ENST00000356140,p.G115R|NM_138326,p.G115R|uc002tua.3,p.G57R	retained_intron, protein_coding	uc002tua.3	nonsynonymous SNV	exon5	c.G169A	p.G57R	TVVSYPRRFVGLGTLPMQAPELAVK	TVVSYPRRFVGLRTLPMQAPELAVK	1.0	8.0	unscreened	-	3784_2:135621058-135621058 G>A_TVVSYPRRFVGLRTLPMQAPELAVK
6:136599034-136599034 C>T	0.0	3784	MELANOMA	-	-	-	2	BCLAF1	ENST00000530767,p.E329K|ENST00000534269,p.E327K|NM_001077441,p.E329K|uc003qgw.1,p.E329K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003qgw.1	nonsynonymous SNV	exon4	c.G985A	p.E329K	GRSSFYPDGGDQETAKTGKFLKSPP	GRSSFYPDGGDQKTAKTGKFLKSPP	10.0	1.0	unscreened	-	3784_6:136599034-136599034 C>T_GRSSFYPDGGDQKTAKTGKFLKSPP
19:45976161-45976161 C>T	0.0	3784	MELANOMA	-	-	-	-	FOSB	uc002pbx.4,p.S303L|ENST00000353609,p.S303L|uc010eke.3,p.S228L|uc010ekg.3,p.S160L|ENST00000443841,p.S160L|ENST00000591858,p.S264L|ENST00000417353,p.S267L|ENST00000585836,p.S228L|NM_001114171,p.S267L|ENST00000586615,p.S254L|NM_006732,p.S303L|uc010ekf.3,p.S264L|uc002pby.4,p.S267L	retained_intron, protein_coding	uc010ekg.3	nonsynonymous SNV	exon2	c.C479T	p.S160L	DPFPVVNPSYTSSFVLTCPEVSAFA	DPFPVVNPSYTSLFVLTCPEVSAFA	5.0	6.0	unscreened	-	3784_19:45976161-45976161 C>T_DPFPVVNPSYTSLFVLTCPEVSAFA
X:90691124-90691124 C>T	1.0	3784	MELANOMA	-	-	-	-	PABPC5	uc022bzs.1,p.P183L|ENST00000312600,p.P183L|uc004efg.3,p.P183L|ENST00000373105,p.P19L|NM_080832,p.P183L	protein_coding	uc022bzs.1	nonsynonymous SNV	exon1	c.C548T	p.P183L	NNRQVYVGRFKFPEERAAEVRTRDR	NNRQVYVGRFKFLEERAAEVRTRDR	4.0	10.0	-	-	3784_X:90691124-90691124 C>T_NNRQVYVGRFKFLEERAAEVRTRDR
15:91354612-91354612 C>T	1.0	3784	MELANOMA	-	-	-	1	BLM	uc010bnx.3,p.A1220V|NM_001287247,p.A1220V|uc010uqh.2,p.A1351V|uc002bpr.3,p.A1351V|NM_001287246,p.A1351V|NM_000057,p.A1351V|ENST00000355112,p.A1351V|ENST00000560509,p.A1220V|uc010uqi.2,p.A976V|NM_001287248,p.A976V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uqi.2	nonsynonymous SNV	exon21	c.C2927T	p.A976V	MPASQRSKRRKTASSGSKAKGGSAT	MPASQRSKRRKTVSSGSKAKGGSAT	6.0	8.0	-	-	3784_15:91354612-91354612 C>T_MPASQRSKRRKTVSSGSKAKGGSAT
16:10524821-10524821 C>T	0.0	3784	MELANOMA	0.0005	-	-	-	ATF7IP2	uc002czu.3,p.S115L|NM_001256160,p.S115L|NM_024997,p.S115L|ENST00000324570,p.S115L|ENST00000396560,p.S115L|uc002czv.3,p.S115L|ENST00000396559,p.S115L|ENST00000568027,p.S115L|ENST00000356427,p.S115L|ENST00000535850,p.S115L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002czv.3	nonsynonymous SNV	exon4	c.C344T	p.S115L	VHSETKLEQVVCSYQKPSRTTESPS	VHSETKLEQVVCLYQKPSRTTESPS	6.0	2.0	unscreened	-	3784_16:10524821-10524821 C>T_VHSETKLEQVVCLYQKPSRTTESPS
5:102360931-102360931 G>A	1.0	3784	MELANOMA	-	-	-	-	PAM	ENST00000304400,p.G861D|ENST00000348126,p.G754D|uc003knz.3,p.G101D|uc003kns.3,p.G754D|NM_000919,p.G861D|ENST00000274392,p.G763D|uc003knt.3,p.G861D|uc011cuz.2,p.G763D|NM_001177306,p.G861D|ENST00000379787,p.G241D|uc003knw.3,p.G861D|ENST00000438793,p.G861D|NM_138821,p.G754D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cuz.2	nonsynonymous SNV	exon22	c.G2288A	p.G763D	KMQEKQKLIKEPGSGVPVVLITTLL	KMQEKQKLIKEPDSGVPVVLITTLL	10.0	8.0	-	-	3784_5:102360931-102360931 G>A_KMQEKQKLIKEPDSGVPVVLITTLL
9:125424850-125424850 C>T	0.0	3784	MELANOMA	-	-	-	-	OR1L1	ENST00000373686,p.P336S|NM_001005236,p.P286S|uc022bmz.1,p.P286S|ENST00000309623,p.P286S	protein_coding	uc022bmz.1	nonsynonymous SNV	exon1	c.C856T	p.P286S	TIIYTVLTPMLNPFIYSLRNKDMKQ	TIIYTVLTPMLNSFIYSLRNKDMKQ	1.0	7.0	unscreened	-	3784_9:125424850-125424850 C>T_TIIYTVLTPMLNSFIYSLRNKDMKQ
10:44140066-44140066 G>A	1.0	3784	MELANOMA	-	-	-	-	ZNF32	ENST00000374433,p.S85F|NM_006973,p.S85F|NM_001005368,p.S85F|ENST00000395797,p.S85F|uc001jbb.3,p.S85F|uc001jbc.3,p.S85F	protein_coding, processed_transcript	uc001jbc.3	nonsynonymous SNV	exon3	c.C254T	p.S85F	RQRVYECQECGKSFRQKGSLTLHER	RQRVYECQECGKFFRQKGSLTLHER	6.0	10.0	-	-	3784_10:44140066-44140066 G>A_RQRVYECQECGKFFRQKGSLTLHER
9:33468758-33468758 T>A	1.0	3784	MELANOMA	-	-	-	-	NOL6	uc010mjv.3,p.Q380L	protein_coding, processed_transcript	uc010mjv.3	nonsynonymous SNV	exon8	c.A1139T	p.Q380L	TMSGYQVLRSVLQFLDLTVNGISLC	TMSGYQVLRSVLLFLDLTVNGISLC	7.0	8.0	-	-	3784_9:33468758-33468758 T>A_TMSGYQVLRSVLLFLDLTVNGISLC
9:33468758-33468758 T>A	1.0	3784	MELANOMA	-	-	-	-	NOL6	uc003zta.3,p.Q380L|ENST00000353159,p.Q380L|uc003ztb.1,p.Q380L|uc011lob.2,p.Q320L|ENST00000455041,p.Q320L|ENST00000379471,p.Q380L|uc003zsz.3,p.Q380L|NM_022917,p.Q380L|ENST00000297990,p.Q380L|NM_139235,p.Q380L	protein_coding, processed_transcript	uc011lob.2	nonsynonymous SNV	exon7	c.A959T	p.Q320L	TMSGYQVLRSVLQFLATTDLTVNGI	TMSGYQVLRSVLLFLATTDLTVNGI	7.0	8.0	-	-	3784_9:33468758-33468758 T>A_TMSGYQVLRSVLLFLATTDLTVNGI
8:27168410-27168410 C>T	1.0	3784	MELANOMA	-	-	-	-	TRIM35	uc010lup.1,p.D115N|NM_171982,p.D115N|ENST00000521253,p.D115N|ENST00000305364,p.D115N|uc003xfl.1,p.D115N	retained_intron, protein_coding	uc010lup.1	nonsynonymous SNV	exon1	c.G343A	p.D115N	LHRGQLSLFCLEDKELLCCSCQADP	LHRGQLSLFCLENKELLCCSCQADP	5.0	10.0	-	-	3784_8:27168410-27168410 C>T_LHRGQLSLFCLENKELLCCSCQADP
17:16335490-16335492 TGC>-	0.0	3784	MELANOMA	-	-	ID=COSM1479280;OCCURENCE=1(breast)	-	TRPV2	ENST00000577397,p.192_193del|ENST00000581560,p.41_42del|uc002gpy.3,p.622_623del|ENST00000338560,p.622_623del|NM_016113,p.622_623del	retained_intron, protein_coding, processed_transcript	uc002gpy.3	nonframeshift deletion	exon12	c.1865_1867del	p.622_623del	LAFQEQLHFRGMVLLLLLAYVLLTY	LAFQEQLHFRGMVLLLLAYVLLTYI	6.0	1.0	unscreened	-	3784_17:16335490-16335492 TGC>-_LAFQEQLHFRGMVLLLLAYVLLTYI
2:135621059-135621059 G>A	0.0	3784	MELANOMA	-	-	-	-	ACMSD	ENST00000392928,p.G57E|ENST00000356140,p.G115E|uc002tua.3,p.G57E|uc002ttz.3,p.G115E|ENST00000283054,p.G57E|NM_138326,p.G115E	retained_intron, protein_coding	uc002tua.3	nonsynonymous SNV	exon5	c.G170A	p.G57E	TVVSYPRRFVGLGTLPMQAPELAVK	TVVSYPRRFVGLETLPMQAPELAVK	1.0	8.0	unscreened	-	3784_2:135621059-135621059 G>A_TVVSYPRRFVGLETLPMQAPELAVK
12:132589401-132589401 G>A	0.0	3784	MELANOMA	-	-	-	-	EP400NL	ENST00000392352,p.R147Q|ENST00000389560,p.R210Q|uc001ujt.3,p.R147Q|uc001ujr.2,p.R147Q|ENST00000446190,p.R279Q|ENST00000376625,p.R279Q|ENST00000407361,p.R147Q|ENST00000454179,p.R210Q|ENST00000332441,p.R211Q|ENST00000443539,p.R147Q|uc009zyq.3,p.R147Q|uc001ujs.4,p.R210Q|uc001ujv.3,p.R279Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc009zyq.3	nonsynonymous SNV	exon5	c.G440A	p.R147Q	QQQQVLQGPPLPRPLGFERTPGVLL	QQQQVLQGPPLPQPLGFERTPGVLL	7.0	9.0	unscreened	-	3784_12:132589401-132589401 G>A_QQQQVLQGPPLPQPLGFERTPGVLL
6:106553119-106553119 C>T	0.0	3784	MELANOMA	-	-	ID=COSM72279;OCCURENCE=1(ovary)	1	PRDM1	uc003pre.3,p.P228S|ENST00000369091,p.P326S|NM_182907,p.P228S|NM_001198,p.P362S|ENST00000369096,p.P362S|uc003prd.2,p.P362S|ENST00000369089,p.P228S	retained_intron, protein_coding	uc003pre.3	nonsynonymous SNV	exon3	c.C682T	p.P228S	SSPHSSPGNTVSPVGPGSQEHRDSY	SSPHSSPGNTVSSVGPGSQEHRDSY	6.0	10.0	unscreened	-	3784_6:106553119-106553119 C>T_SSPHSSPGNTVSSVGPGSQEHRDSY
3:172835116-172835116 G>A	0.0	3784	MELANOMA	-	-	ID=COSM1693825;OCCURENCE=1(skin)	-	SPATA16	NM_031955,p.R136C|ENST00000351008,p.R136C|uc003fin.4,p.R136C	protein_coding	uc003fin.4	nonsynonymous SNV	exon2	c.C406T	p.R136C	EMKLVYIDEMGVRYEFVESFMSTGS	EMKLVYIDEMGVCYEFVESFMSTGS	1.0	2.0	unscreened	-	3784_3:172835116-172835116 G>A_EMKLVYIDEMGVCYEFVESFMSTGS
10:115526432-115526432 C>T	0.0	3784	MELANOMA	-	-	-	-	PLEKHS1	ENST00000369310,p.S54F|NM_182601,p.S54F|uc001lar.2,p.S60F|ENST00000361048,p.S60F|NM_024889,p.S60F|uc001lat.2,p.S54F	protein_coding	uc001lat.2	nonsynonymous SNV	exon3	c.C161T	p.S54F	ILSKAGEKSFSLSYYKDHHHRGSIE	ILSKAGEKSFSLFYYKDHHHRGSIE	2.0	10.0	unscreened	-	3784_10:115526432-115526432 C>T_ILSKAGEKSFSLFYYKDHHHRGSIE
12:132589401-132589401 G>A	0.0	3784	MELANOMA	-	-	-	-	EP400NL	ENST00000361109,p.R126Q	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000361109	nonsynonymous SNV	exon4	c.G377A	p.R126Q	SHITTANLPPQPRPLGFERTPGVLL	SHITTANLPPQPQPLGFERTPGVLL	7.0	9.0	unscreened	-	3784_12:132589401-132589401 G>A_SHITTANLPPQPQPLGFERTPGVLL
15:24921159-24921159 G>A	0.0	3784	MELANOMA	-	-	-	-	NPAP1	uc001ywo.3,p.G49S|ENST00000329468,p.G49S|NM_018958,p.G49S	protein_coding	uc001ywo.3	nonsynonymous SNV	exon1	c.G145A	p.G49S	RAHSVPTPRPFRGLFRRNARRRPSA	RAHSVPTPRPFRSLFRRNARRRPSA	1.0	8.0	unscreened	-	3784_15:24921159-24921159 G>A_RAHSVPTPRPFRSLFRRNARRRPSA
11:1157575-1157575 C>T	0.0	3784	MELANOMA	-	-	-	-	MUC2,MUC5B	ENST00000356191,p.S249F	protein_coding, processed_transcript	ENST00000356191	nonsynonymous SNV	exon12	c.C746T	p.S249F	RWTTPRSSVRTLSLNPRGTAPLALG	RWTTPRSSVRTLFLNPRGTAPLALG	1.0	3.0	unscreened	-	3784_11:1157575-1157575 C>T_RWTTPRSSVRTLFLNPRGTAPLALG
3:196749903-196749903 C>T	1.0	3784	MELANOMA	-	-	-	-	MFI2	ENST00000296351,p.R190K|NM_033316,p.R190K|NM_005929,p.R190K|ENST00000296350,p.R190K	retained_intron, protein_coding	NM_033316	nonsynonymous SNV	exon5	c.G569A	p.R190K	ETSYSESLCRLCRGDSSGEGVCDKS	ETSYSESLCRLCKGDSSGEGVCDKS	8.0	3.0	-	-	3784_3:196749903-196749903 C>T_ETSYSESLCRLCKGDSSGEGVCDKS
12:117977577-117977577 G>A	0.0	3784	MELANOMA	-	-	-	-	KSR2	uc001two.2,p.P516L|ENST00000425217,p.P516L|NM_173598,p.P516L|ENST00000339824,p.P545L|ENST00000302438,p.P242L	retained_intron, protein_coding, processed_transcript	uc001two.2	nonsynonymous SNV	exon10	c.C1547T	p.P516L	APPLPPSATPPSPLHPSPQCTRQQK	APPLPPSATPPSLLHPSPQCTRQQK	1.0	7.0	unscreened	-	3784_12:117977577-117977577 G>A_APPLPPSATPPSLLHPSPQCTRQQK
11:100126624-100126624 C>T	0.0	3784	MELANOMA	-	-	-	-	CNTN5	uc001pga.3,p.S713F|uc021qpb.1,p.S713F|NM_001243271,p.S713F|ENST00000528682,p.S713F|uc001pfz.3,p.S713F|NM_001243270,p.S713F|NM_014361,p.S713F|ENST00000524871,p.S713F|ENST00000418526,p.S639F|ENST00000279463,p.S713F|uc021qpc.1,p.S639F|NM_175566,p.S639F|ENST00000527185,p.S713F	retained_intron, protein_coding, processed_transcript	uc021qpc.1	nonsynonymous SNV	exon14	c.C1916T	p.S639F	ISSYNLQARSPFSLGWQTVKTVPEI	ISSYNLQARSPFFLGWQTVKTVPEI	1.0	10.0	unscreened	-	3784_11:100126624-100126624 C>T_ISSYNLQARSPFFLGWQTVKTVPEI
3:63981837-63981837 C>T	1.0	3784	MELANOMA	-	-	-	-	ATXN7	NM_001128149,p.P635L|ENST00000538065,p.P780L|uc011bfn.2,p.P635L|uc021wzy.1,p.P780L|ENST00000487717,p.P780L|ENST00000295900,p.P780L|ENST00000484332,p.P635L|uc003dlw.4,p.P780L|NM_000333,p.P780L|NM_001177387,p.P780L|uc003dlv.3,p.P780L|ENST00000398590,p.P780L	retained_intron, protein_coding, processed_transcript	uc021wzy.1	nonsynonymous SNV	exon11	c.C2339T	p.P780L	VNVRHDQSGRGPPTGSPAESIKRMS	VNVRHDQSGRGPLTGSPAESIKRMS	7.0	7.0	-	-	3784_3:63981837-63981837 C>T_VNVRHDQSGRGPLTGSPAESIKRMS
20:48253920-48253920 G>A	1.0	3784	MELANOMA	-	-	-	-	B4GALT5	uc002xuu.4,p.S326F|NM_004776,p.S326F|ENST00000371711,p.S326F	protein_coding	uc002xuu.4	nonsynonymous SNV	exon8	c.C977T	p.S326F	VSRPEGDTGKYKSIPHHHRGEVQFL	VSRPEGDTGKYKFIPHHHRGEVQFL	9.0	4.0	-	-	3784_20:48253920-48253920 G>A_VSRPEGDTGKYKFIPHHHRGEVQFL
13:27255386-27255386 ->C	0.0	3784	MELANOMA	-	-	-	-	WASF3	NM_006646,p.P304fs|NM_001291965,p.P301fs|ENST00000335327,p.P304fs|uc001uqv.3,p.P304fs|uc001uqw.3,p.P301fs|ENST00000361042,p.P301fs	protein_coding, processed_transcript	uc001uqw.3	frameshift insertion	exon8	c.904dupC	p.P301fs	SARHMALNRPQQPPPPPPPQAPEGS	SARHMALNRPQQPPPPASPSGPRGVPGLCTDGSSRLRDAPSADN	3.0	1.0	unscreened	-	3784_13:27255386-27255386 ->C_SARHMALNRPQQPPPPASPSGPRGVPGLCTDGSSRLRDAPSADN
1:158609424-158609424 C>T	0.0	3784	MELANOMA	-	-	-	-	SPTA1	uc001fst.1,p.G1643E|NM_003126,p.G1643E|ENST00000368148,p.G1643E|ENST00000368147,p.G1643E	protein_coding, processed_transcript	uc001fst.1	nonsynonymous SNV	exon35	c.G4928A	p.G1643E	AMKDQARDLASAGNLLKKHQLLERE	AMKDQARDLASAENLLKKHQLLERE	5.0	10.0	unscreened	-	3784_1:158609424-158609424 C>T_AMKDQARDLASAENLLKKHQLLERE
2:197596781-197596781 C>T	0.0	3784	MELANOMA	-	-	-	-	CCDC150	uc010zgs.1,p.H679Y|ENST00000389175,p.H1032Y|uc002utp.1,p.H1032Y|ENST00000272831,p.H679Y|ENST00000409270,p.H519Y|NM_001080539,p.H1032Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zgs.1	nonsynonymous SNV	exon22	c.C2035T	p.H679Y	ESEQITANLEEAHRWFKHRFDGLQL	ESEQITANLEEAYRWFKHRFDGLQL	5.0	4.0	unscreened	-	3784_2:197596781-197596781 C>T_ESEQITANLEEAYRWFKHRFDGLQL
X:57515291-57515291 G>A	0.0	3784	MELANOMA	-	-	ID=COSM3965393;OCCURENCE=1(lung)	-	FAAH2	ENST00000374900,p.D509N|NM_174912,p.D509N|uc004dvc.3,p.D509N	protein_coding, processed_transcript	uc004dvc.3	nonsynonymous SNV	exon11	c.G1525A	p.D509N	PLGIQVVAGPFNDHLTLAVAQYLEK	PLGIQVVAGPFNNHLTLAVAQYLEK	3.0	10.0	unscreened	-	3784_X:57515291-57515291 G>A_PLGIQVVAGPFNNHLTLAVAQYLEK
15:52416716-52416716 G>A	1.0	3784	MELANOMA	-	-	-	-	GNB5	uc031qrz.1,p.P84S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qrz.1	nonsynonymous SNV	exon3	c.C250T	p.P84S	DMKTALALYEFPPMGLLSALDHGII	DMKTALALYEFPSMGLLSALDHGII	5.0	6.0	-	-	3784_15:52416716-52416716 G>A_DMKTALALYEFPSMGLLSALDHGII
3:172835128-172835128 C>T	0.0	3784	MELANOMA	-	-	ID=COSM228373;OCCURENCE=1(skin)	-	SPATA16	NM_031955,p.E132K|ENST00000351008,p.E132K|uc003fin.4,p.E132K	protein_coding	uc003fin.4	nonsynonymous SNV	exon2	c.G394A	p.E132K	IMDVEMKLVYIDEMGVRYEFVESFM	IMDVEMKLVYIDKMGVRYEFVESFM	1.0	2.0	unscreened	-	3784_3:172835128-172835128 C>T_IMDVEMKLVYIDKMGVRYEFVESFM
4:99363155-99363155 G>A	1.0	3784	MELANOMA	-	-	-	1	RAP1GDS1	uc003hua.4,p.E480K|uc003htw.4,p.E572K|uc003hty.4,p.E523K|uc003htv.4,p.E571K|NM_001100426,p.E572K|ENST00000408900,p.E522K|NM_001100428,p.E523K|NM_001100427,p.E571K|uc003htz.4,p.E522K|NM_001100429,p.E522K|ENST00000264572,p.E480K|uc003htx.4,p.E571K|NM_021159,p.E571K|ENST00000339360,p.E572K|NM_001100430,p.E480K|ENST00000408927,p.E571K|ENST00000453712,p.E571K|ENST00000380158,p.E523K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003hua.4	nonsynonymous SNV	exon13	c.G1438A	p.E480K	ICALMGSECLHKEVQDLAFLDVVSK	ICALMGSECLHKKVQDLAFLDVVSK	8.0	5.0	-	-	3784_4:99363155-99363155 G>A_ICALMGSECLHKKVQDLAFLDVVSK
11:58207375-58207375 G>A	0.0	3784	MELANOMA	-	-	-	-	OR5B12	ENST00000302572,p.L84F|uc010rkh.2,p.L84F|NM_001004733,p.L84F	protein_coding	uc010rkh.2	nonsynonymous SNV	exon1	c.C250T	p.L84F	SSAVTPKVMVGFLTGDKFILYNACA	SSAVTPKVMVGFFTGDKFILYNACA	1.0	2.0	unscreened	-	3784_11:58207375-58207375 G>A_SSAVTPKVMVGFFTGDKFILYNACA
7:73752820-73752820 C>T	0.0	3784	MELANOMA	-	-	-	-	CLIP2	ENST00000223398,p.P55L|uc003uam.3,p.P55L|ENST00000395060,p.P55L|NM_032421,p.P55L|uc003uan.3,p.P55L|NM_003388,p.P55L|ENST00000361545,p.P55L	retained_intron, protein_coding	uc003uan.3	nonsynonymous SNV	exon3	c.C164T	p.P55L	PLHKQSSGPSSSPAAAAAPEKPGPK	PLHKQSSGPSSSLAAAAAPEKPGPK	7.0	3.0	unscreened	-	3784_7:73752820-73752820 C>T_PLHKQSSGPSSSLAAAAAPEKPGPK
2:73315250-73315250 G>A	0.0	3784	MELANOMA	-	-	-	-	RAB11FIP5	uc002siu.4,p.S499F|uc002sit.4,p.S421F|ENST00000258098,p.S499F|NM_015470,p.S499F	protein_coding, processed_transcript	uc002siu.4	nonsynonymous SNV	exon3	c.C1496T	p.S499F	GGPILGASPHHSSSGEEKAKSSWFG	GGPILGASPHHSFSGEEKAKSSWFG	5.0	2.0	unscreened	-	3784_2:73315250-73315250 G>A_GGPILGASPHHSFSGEEKAKSSWFG
14:76184299-76184299 A>T	1.0	3784	MELANOMA	-	-	-	-	TTLL5	ENST00000298832,p.Y279F|uc001xrx.3,p.Y279F|NM_015072,p.Y279F|ENST00000557636,p.Y279F|uc010ask.2,p.Y279F	retained_intron, protein_coding, processed_transcript	uc010ask.2	nonsynonymous SNV	exon10	c.A836T	p.Y279F	LTNYSVNKKSGDYVSCDDPEVEDYG	LTNYSVNKKSGDFVSCDDPEVEDYG	8.0	6.0	-	-	3784_14:76184299-76184299 A>T_LTNYSVNKKSGDFVSCDDPEVEDYG
7:87529601-87529601 C>T	1.0	3784	MELANOMA	-	-	-	-	DBF4	ENST00000413643,p.P229S	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000413643	nonsynonymous SNV	exon9	c.C685T	p.P229S	KPFVKVEDMSQSPAVHLM	KPFVKVEDMSQSSAVHLM	8.0	5.0	-	-	3784_7:87529601-87529601 C>T_KPFVKVEDMSQSSAVHLM
17:3635754-3635754 A>T	0.0	3784	MELANOMA	-	-	-	-	ITGAE	uc002fwo.4,p.S888T|NM_002208,p.S888T|ENST00000263087,p.S888T	retained_intron, protein_coding, processed_transcript	uc002fwo.4	nonsynonymous SNV	exon22	c.T2662A	p.S888T	RNLQLKRMQKPPSPNIQCDDPQPVA	RNLQLKRMQKPPTPNIQCDDPQPVA	8.0	7.0	unscreened	-	3784_17:3635754-3635754 A>T_RNLQLKRMQKPPTPNIQCDDPQPVA
18:25589736-25589736 G>A	0.0	3784	MELANOMA	-	-	ID=COSM987344;OCCURENCE=1(endometrium)	-	CDH2	NM_001792,p.S216L|ENST00000418492,p.S165L|uc010xbn.1,p.S185L|ENST00000269141,p.S216L|uc002kwg.2,p.S216L|ENST00000399380,p.S185L	protein_coding	uc010xbn.1	nonsynonymous SNV	exon4	c.C554T	p.S185L	QPPTGIFIINPISGQLSVTKPLDRE	QPPTGIFIINPILGQLSVTKPLDRE	5.0	1.0	unscreened	-	3784_18:25589736-25589736 G>A_QPPTGIFIINPILGQLSVTKPLDRE
2:220404548-220404548 G>A	1.0	3784	MELANOMA	-	-	-	-	CHPF	uc002vmc.4,p.R629C|ENST00000243776,p.R629C|NM_001195731,p.R467C|ENST00000535926,p.R467C|NM_024536,p.R629C|uc010zlh.2,p.R467C	protein_coding	uc010zlh.2	nonsynonymous SNV	exon4	c.C1399T	p.R467C	DTVLTPDFLNRCRMHAISGWQAFFP	DTVLTPDFLNRCCMHAISGWQAFFP	9.0	2.0	-	-	3784_2:220404548-220404548 G>A_DTVLTPDFLNRCCMHAISGWQAFFP
15:24921160-24921160 G>A	0.0	3784	MELANOMA	-	-	-	-	NPAP1	NM_018958,p.G49D|uc001ywo.3,p.G49D|ENST00000329468,p.G49D	protein_coding	uc001ywo.3	nonsynonymous SNV	exon1	c.G146A	p.G49D	RAHSVPTPRPFRGLFRRNARRRPSA	RAHSVPTPRPFRDLFRRNARRRPSA	1.0	9.0	unscreened	-	3784_15:24921160-24921160 G>A_RAHSVPTPRPFRDLFRRNARRRPSA
4:106848552-106848552 C>T	0.0	3784	MELANOMA	-	-	-	-	NPNT	uc011cfe.2,p.H78Y|ENST00000506666,p.H78Y|uc011cfd.2,p.H78Y|NM_001184691,p.H78Y|NM_001184693,p.H78Y|ENST00000503451,p.H95Y|ENST00000427316,p.H78Y	retained_intron, protein_coding, processed_transcript	uc011cfe.2	nonsynonymous SNV	exon3	c.C232T	p.H78Y	HGECIGPNKCKCHPGYAGKTCNQDE	HGECIGPNKCKCYPGYAGKTCNQDE	7.0	5.0	unscreened	-	3784_4:106848552-106848552 C>T_HGECIGPNKCKCYPGYAGKTCNQDE
8:73849944-73849944 C>A	0.0	3784	MELANOMA	-	-	-	-	KCNB2	ENST00000523207,p.S785Y|uc003xzb.3,p.S785Y|NM_004770,p.S785Y	protein_coding	uc003xzb.3	nonsynonymous SNV	exon3	c.C2354A	p.S785Y	VSAPCQGPSKGLSPRFPKQKLFPFS	VSAPCQGPSKGLYPRFPKQKLFPFS	1.0	8.0	unscreened	-	3784_8:73849944-73849944 C>A_VSAPCQGPSKGLYPRFPKQKLFPFS
7:2581000-2581000 G>A	1.0	3784	MELANOMA	-	-	-	-	BRAT1	NM_152743,p.T418I|uc003smi.3,p.T418I|ENST00000340611,p.T418I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003smi.3	nonsynonymous SNV	exon9	c.C1253T	p.T418I	APASSVGGHLCGTLAGCVRVQRAAL	APASSVGGHLCGILAGCVRVQRAAL	7.0	10.0	-	-	3784_7:2581000-2581000 G>A_APASSVGGHLCGILAGCVRVQRAAL
10:99410746-99410746 C>T	1.0	3784	MELANOMA	-	-	-	-	PI4K2A	ENST00000370649,p.L132F|ENST00000370631,p.L162F|uc010qoy.1,p.L132F|uc001kog.1,p.L162F|ENST00000555577,p.L132F|NM_018425,p.L162F	protein_coding	uc010qoy.1	nonsynonymous SNV	exon3	c.C394T	p.L132F	VFKPKNEEPYGHLNPKWTKWLQKLC	VFKPKNEEPYGHFNPKWTKWLQKLC	6.0	10.0	-	-	3784_10:99410746-99410746 C>T_VFKPKNEEPYGHFNPKWTKWLQKLC
8:106815096-106815096 G>A	0.0	3784	MELANOMA	-	-	-	-	ZFPM2	NM_012082,p.G929E|ENST00000520492,p.G797E|ENST00000517361,p.G797E|uc003ymd.3,p.G929E|ENST00000378472,p.G660E|ENST00000407775,p.G929E|uc011lhs.2,p.G660E	protein_coding, processed_transcript	uc011lhs.2	nonsynonymous SNV	exon6	c.G1979A	p.G660E	EKNGNLKQPSPNGNLFSSHLATLQG	EKNGNLKQPSPNENLFSSHLATLQG	5.0	8.0	unscreened	-	3784_8:106815096-106815096 G>A_EKNGNLKQPSPNENLFSSHLATLQG
4:106848552-106848552 C>T	0.0	3784	MELANOMA	-	-	-	-	NPNT	NM_001184690,p.H95Y|uc003hya.3,p.H78Y|ENST00000514622,p.H78Y|ENST00000379987,p.H78Y|NM_001033047,p.H78Y|NM_001184692,p.H78Y|ENST00000453617,p.H95Y|uc011cff.2,p.H78Y|ENST00000305572,p.H78Y|uc011cfc.2,p.H95Y	retained_intron, protein_coding, processed_transcript	uc011cff.2	nonsynonymous SNV	exon3	c.C232T	p.H78Y	HGECIGPNKCKCHPGYAGKTCNQDL	HGECIGPNKCKCYPGYAGKTCNQDL	7.0	5.0	unscreened	-	3784_4:106848552-106848552 C>T_HGECIGPNKCKCYPGYAGKTCNQDL
16:7568294-7568294 T>G	0.0	3784	MELANOMA	-	-	-	-	RBFOX1	uc010buf.1,p.V58G|ENST00000547605,p.V58G|ENST00000547372,p.V101G|uc002cyy.2,p.V78G|uc002cyw.2,p.V78G|NM_001142333,p.V58G|NM_145891,p.V78G|ENST00000436368,p.V78G|uc002cyr.1,p.V58G|uc002cys.2,p.V58G|uc010uyb.1,p.V58G|uc002cyv.1,p.V58G|ENST00000547338,p.V58G|uc010uya.1,p.V94G|ENST00000355637,p.V78G|ENST00000550418,p.V58G|NM_001142334,p.V58G|ENST00000570626,p.V60G|ENST00000551752,p.V58G|ENST00000340209,p.V63G|uc010uyc.1,p.V78G|ENST00000553186,p.V58G|ENST00000422070,p.V101G|ENST00000552089,p.V94G|ENST00000311745,p.V78G|uc010uxz.1,p.V101G|uc002cyx.2,p.V78G|uc002cyt.2,p.V58G|NM_018723,p.V58G|ENST00000535565,p.V94G|NM_145893,p.V78G|NM_145892,p.V78G	retained_intron, protein_coding, processed_transcript	uc010uyc.1	nonsynonymous SNV	exon2	c.T233G	p.V78G	PHPAPEYTGQTTVPEHTLNLYPPAQ	PHPAPEYTGQTTGPEHTLNLYPPAQ	1.0	9.0	unscreened	-	3784_16:7568294-7568294 T>G_PHPAPEYTGQTTGPEHTLNLYPPAQ
19:46807177-46807177 G>A	1.0	3784	MELANOMA	-	-	-	-	HIF3A	ENST00000377670,p.E17K|uc002peh.3,p.E17K|uc002peg.4,p.E17K|NM_152795,p.E17K|uc002pef.2,p.E17K|ENST00000533789,p.E17K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002peh.3	nonsynonymous SNV	exon2	c.G49A	p.E17K	LQRARSTTELRKEKSRDAARSRRSQ	LQRARSTTELRKKKSRDAARSRRSQ	6.0	9.0	-	-	3784_19:46807177-46807177 G>A_LQRARSTTELRKKKSRDAARSRRSQ
5:167687368-167687368 G>T	0.0	3784	MELANOMA	-	-	-	-	TENM2	NM_001122679,p.V2496L|uc010jjd.3,p.V2496L|uc010jje.3,p.V1760L|uc003lzr.5,p.V2266L|ENST00000519204,p.V2384L|ENST00000545108,p.V2504L|ENST00000403607,p.V2329L|uc003lzt.4,p.V1869L|ENST00000518659,p.V2505L|ENST00000520394,p.V2266L	retained_intron, protein_coding, processed_transcript	uc010jje.3	nonsynonymous SNV	exon17	c.G5278T	p.V1760L	IIPGFPRAKMYFVPPPYELSESQAS	IIPGFPRAKMYFLPPPYELSESQAS	1.0	3.0	unscreened	-	3784_5:167687368-167687368 G>T_IIPGFPRAKMYFLPPPYELSESQAS
X:109696280-109696280 C>T	0.0	3784	MELANOMA	-	-	-	-	RGAG1	NM_020769,p.S812F|ENST00000540313,p.S812F|uc004eor.2,p.S812F|ENST00000465301,p.S812F|uc011msr.1,p.S812F	protein_coding	uc011msr.1	nonsynonymous SNV	exon3	c.C2435T	p.S812F	APASGEIATPLRSPAYGAMSAPQMT	APASGEIATPLRFPAYGAMSAPQMT	1.0	10.0	unscreened	-	3784_X:109696280-109696280 C>T_APASGEIATPLRFPAYGAMSAPQMT
20:41400190-41400190 C>T	0.0	3784	MELANOMA	-	-	-	1	PTPRT	ENST00000373190,p.R190K|uc002xkg.3,p.R190K|ENST00000373198,p.R190K|ENST00000356100,p.R190K|ENST00000373201,p.R190K|ENST00000373193,p.R190K|ENST00000373184,p.R190K|NM_007050,p.R190K|NM_133170,p.R190K|uc010ggj.3,p.R190K|ENST00000373187,p.R190K	protein_coding, processed_transcript	uc010ggj.3	nonsynonymous SNV	exon5	c.G569A	p.R190K	AVDEVRVLAHPCRKAPHFLRLQNVE	AVDEVRVLAHPCKKAPHFLRLQNVE	1.0	4.0	unscreened	-	3784_20:41400190-41400190 C>T_AVDEVRVLAHPCKKAPHFLRLQNVE
6:42044887-42044887 C>T	1.0	3784	MELANOMA	-	-	-	-	TAF8	ENST00000456846,p.P277L|uc011dun.2,p.P201L|NM_138572,p.P277L|ENST00000465926,p.P201L|ENST00000372977,p.P277L|uc003orv.1,p.P277L|uc003ors.3,p.P277L	retained_intron, protein_coding, processed_transcript	uc011dun.2	nonsynonymous SNV	exon8	c.C602T	p.P201L	AEKENTSVLQQNPSLSGSRNGEENI	AEKENTSVLQQNLSLSGSRNGEENI	8.0	9.0	-	-	3784_6:42044887-42044887 C>T_AEKENTSVLQQNLSLSGSRNGEENI
5:138764259-138764259 T>G	0.0	3784	MELANOMA	-	-	-	-	DNAJC18	ENST00000515581,p.N114T|uc003len.3,p.N114T|ENST00000515277,p.N114T|ENST00000302060,p.N114T|NM_152686,p.N114T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003len.3	nonsynonymous SNV	exon3	c.A341C	p.N114T	YRKLALKFHPDKNCAPGATDAFKAI	YRKLALKFHPDKTCAPGATDAFKAI	7.0	8.0	unscreened	-	3784_5:138764259-138764259 T>G_YRKLALKFHPDKTCAPGATDAFKAI
2:73188341-73188341 G>A	0.0	3784	MELANOMA	-	-	-	-	SFXN5	uc010fet.3,p.S221F|ENST00000410065,p.S221F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fet.3	nonsynonymous SNV	exon11	c.C662T	p.S221F	GRLSCRHAPGCSSLCKASCAWQPSA	GRLSCRHAPGCSFLCKASCAWQPSA	6.0	9.0	unscreened	-	3784_2:73188341-73188341 G>A_GRLSCRHAPGCSFLCKASCAWQPSA
5:161524744-161524744 G>A	0.0	3784	MELANOMA	-	-	-	-	GABRG2	ENST00000361925,p.G143E|uc011dej.2,p.G48E|ENST00000356592,p.G143E|uc010jjc.3,p.G143E|uc003lyz.4,p.G143E|ENST00000393933,p.G48E|NM_000816,p.G143E|uc003lyy.4,p.G143E|NM_198903,p.G143E|NM_198904,p.G143E|ENST00000522053,p.G48E|ENST00000414552,p.G143E	protein_coding, nonsense_mediated_decay	uc011dej.2	nonsynonymous SNV	exon5	c.G143A	p.G48E	TIKVLRLNSNMVGKIWIPDTFFRNS	TIKVLRLNSNMVEKIWIPDTFFRNS	1.0	7.0	unscreened	-	3784_5:161524744-161524744 G>A_TIKVLRLNSNMVEKIWIPDTFFRNS
14:88477340-88477340 G>A	0.0	3784	MELANOMA	-	-	-	-	GPR65	ENST00000267549,p.G50E|uc001xvv.3,p.G50E|uc021rxh.1,p.G50E|NM_003608,p.G50E	protein_coding	uc021rxh.1	nonsynonymous SNV	exon1	c.G149A	p.G50E	VSFLQAKKESELGIYLFSLSLSDLL	VSFLQAKKESELEIYLFSLSLSDLL	6.0	8.0	unscreened	-	3784_14:88477340-88477340 G>A_VSFLQAKKESELEIYLFSLSLSDLL
19:46807177-46807177 G>A	1.0	3784	MELANOMA	-	-	-	-	HIF3A	ENST00000300862,p.E15K|uc002pel.3,p.E15K|NM_152794,p.E15K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002pel.3	nonsynonymous SNV	exon2	c.G43A	p.E15K	WQDHRSTTELRKEKSRDAARSRRSQ	WQDHRSTTELRKKKSRDAARSRRSQ	6.0	9.0	-	-	3784_19:46807177-46807177 G>A_WQDHRSTTELRKKKSRDAARSRRSQ
20:5282972-5282972 G>A	0.0	3784	MELANOMA	-	-	-	-	PROKR2	NM_144773,p.P290L|ENST00000217270,p.P290L|uc010zqw.2,p.P290L|uc010zqy.2,p.P290L|uc010zqx.2,p.P290L|ENST00000546004,p.P290L	protein_coding	uc010zqy.2	nonsynonymous SNV	exon3	c.C869T	p.P290L	MCILTAYVLCWAPFYGFTIVRDFFP	MCILTAYVLCWALFYGFTIVRDFFP	1.0	4.0	unscreened	-	3784_20:5282972-5282972 G>A_MCILTAYVLCWALFYGFTIVRDFFP
18:71797676-71797676 G>A	0.0	3784	MELANOMA	-	-	ID=COSM3796508,COSM3796509;OCCURENCE=1(urinary_tract)	-	FBXO15	uc002llf.2,p.P184S|ENST00000419743,p.P184S|NM_152676,p.P108S|NM_001142958,p.P184S|uc002lle.2,p.P108S|ENST00000269500,p.P108S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002llf.2	nonsynonymous SNV	exon4	c.C550T	p.P184S	DILKPVNPYTGLPVKTKEALRIFGL	DILKPVNPYTGLSVKTKEALRIFGL	3.0	1.0	unscreened	-	3784_18:71797676-71797676 G>A_DILKPVNPYTGLSVKTKEALRIFGL
5:138764259-138764259 T>G	0.0	3784	MELANOMA	-	-	-	-	DNAJC18	uc010jff.3,p.N114T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jff.3	nonsynonymous SNV	exon3	c.A341C	p.N114T	YRKLALKFHPDKNCAPGATDAFKGN	YRKLALKFHPDKTCAPGATDAFKGN	7.0	8.0	unscreened	-	3784_5:138764259-138764259 T>G_YRKLALKFHPDKTCAPGATDAFKGN
19:46281089-46281089 G>A	0.0	3784	MELANOMA	-	-	-	-	DMPK	ENST00000447742,p.P240S|uc010xxs.1,p.P151S|uc002pdd.1,p.P250S|NM_001288766,p.P240S|uc002pdi.1,p.P266S|NM_001081563,p.P250S|uc002pde.1,p.P250S|uc002pdh.1,p.P240S|ENST00000354227,p.P240S|NM_001081560,p.P240S|NM_001081562,p.P240S|uc002pdg.1,p.P240S|uc010xxt.1,p.P240S|NM_001288764,p.P266S|ENST00000600757,p.P250S|NM_004409,p.P240S|NM_001288765,p.P151S|uc002pdf.1,p.P240S|ENST00000458663,p.P240S|ENST00000343373,p.P250S|ENST00000291270,p.P240S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xxt.1	nonsynonymous SNV	exon7	c.C718T	p.P240S	SLVAVGTPDYLSPEILQAVGGGPGT	SLVAVGTPDYLSSEILQAVGGGPGT	9.0	4.0	unscreened	-	3784_19:46281089-46281089 G>A_SLVAVGTPDYLSSEILQAVGGGPGT
6:76599857-76599857 ->A	0.0	3784	MELANOMA	-	-	ID=COSM1446015;OCCURENCE=1(large_intestine)	-	MYO6	NM_001300899,p.Q914fs|NM_004999,p.Q914fs|ENST00000369975,p.Q914fs|uc003pii.1,p.Q914fs|ENST00000369977,p.Q914fs|uc003pih.1,p.Q914fs|uc003pig.1,p.Q914fs|ENST00000369981,p.Q914fs|ENST00000369985,p.Q914fs	protein_coding, processed_transcript	uc003pii.1	frameshift insertion	exon25	c.2743dupA	p.Q914fs	LVKSSEELLSALQKKKQQEEEAERL	LVKSSEELLSALQKKKTAGRGSRKAEAYSRRNGKGKKKT	5.0	1.0	unscreened	-	3784_6:76599857-76599857 ->A_LVKSSEELLSALQKKKTAGRGSRKAEAYSRRNGKGKKKT
7:40041546-40041546 C>T	1.0	3784	MELANOMA	-	-	-	-	CDK13	ENST00000181839,p.R757W|ENST00000340829,p.R757W|uc003thi.4,p.R757W|uc003thh.4,p.R757W|NM_003718,p.R757W|NM_031267,p.R757W|uc011kbf.2,p.R143W	retained_intron, protein_coding, processed_transcript	uc011kbf.2	nonsynonymous SNV	exon4	c.C427T	p.R143W	FPITAIREIKILRQLTHQSIINMKE	FPITAIREIKILWQLTHQSIINMKE	8.0	1.0	-	-	3784_7:40041546-40041546 C>T_FPITAIREIKILWQLTHQSIINMKE
2:242741347-242741347 C>T	0.0	3784	MELANOMA	-	-	-	-	GAL3ST2	uc002wcj.1,p.H91Y|NM_022134,p.H91Y|ENST00000192314,p.H91Y	protein_coding	uc002wcj.1	nonsynonymous SNV	exon3	c.C271T	p.H91Y	NLSVALPAGSRVHLGYPWLFLARYV	NLSVALPAGSRVYLGYPWLFLARYV	1.0	7.0	unscreened	-	3784_2:242741347-242741347 C>T_NLSVALPAGSRVYLGYPWLFLARYV
2:167056312-167056312 G>A	0.0	3784	MELANOMA	-	-	-	-	SCN9A	ENST00000303354,p.R1614C|ENST00000375387,p.R1614C|uc010fpl.3,p.R1602C|ENST00000409672,p.R1602C|NM_002977,p.R1602C|ENST00000409435,p.R1613C	retained_intron, protein_coding	uc010fpl.3	nonsynonymous SNV	exon27	c.C4804T	p.R1602C	TYFVSPTLFRVIRLARIGRILRLVK	TYFVSPTLFRVICLARIGRILRLVK	4.0	2.0	unscreened	-	3784_2:167056312-167056312 G>A_TYFVSPTLFRVICLARIGRILRLVK
17:11556245-11556245 G>A	0.0	3784	MELANOMA	-	-	-	-	DNAH9	NM_001372,p.D841N|uc002gne.3,p.D841N|uc010coo.3,p.D135N|ENST00000262442,p.D841N|ENST00000454412,p.D841N	retained_intron, protein_coding, processed_transcript	uc010coo.3	nonsynonymous SNV	exon2	c.G403A	p.D135N	KDGKRESLLSLDDRHDRMEKYYNLI	KDGKRESLLSLDNRHDRMEKYYNLI	7.0	5.0	unscreened	-	3784_17:11556245-11556245 G>A_KDGKRESLLSLDNRHDRMEKYYNLI
17:12862127-12862127 C>T	0.0	3784	MELANOMA	-	-	-	-	ARHGAP44	NM_014859,p.P479L|ENST00000544416,p.P479L|ENST00000262444,p.P479L|ENST00000340825,p.P479L|uc010vvk.2,p.P479L|uc010vvl.2,p.P479L|ENST00000379672,p.P479L|uc002gns.4,p.P279L|uc002gnt.1,p.P202L|uc010vvm.2,p.P479L|uc002gnr.4,p.P479L|ENST00000583608,p.P83L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, lincRNA	uc010vvm.2	nonsynonymous SNV	exon16	c.C1436T	p.P479L	ANYSSMPSPDMDPADRRQPEQARRP	ANYSSMPSPDMDLADRRQPEQARRP	4.0	9.0	unscreened	-	3784_17:12862127-12862127 C>T_ANYSSMPSPDMDLADRRQPEQARRP
7:53104047-53104047 C>T	0.0	3784	MELANOMA	-	-	-	-	POM121L12	uc003tpz.3,p.S228F|NM_182595,p.S228F|ENST00000408890,p.S228F	protein_coding	uc003tpz.3	nonsynonymous SNV	exon1	c.C683T	p.S228F	AFKPLSKNGAVASFVPRPGPLKPSL	AFKPLSKNGAVAFFVPRPGPLKPSL	1.0	1.0	unscreened	-	3784_7:53104047-53104047 C>T_AFKPLSKNGAVAFFVPRPGPLKPSL
14:78184545-78184545 A>T	1.0	3784	MELANOMA	-	-	-	-	SNW1	NM_012245,p.F499L	retained_intron, protein_coding, nonsense_mediated_decay	NM_012245	nonsynonymous SNV	exon14	c.T1497A	p.F499L	GREGPVQFEEDPFGLDKFLEEAKQH	GREGPVQFEEDPLGLDKFLEEAKQH	9.0	5.0	-	-	3784_14:78184545-78184545 A>T_GREGPVQFEEDPLGLDKFLEEAKQH
X:34148068-34148068 C>T	0.0	3784	MELANOMA	-	-	-	-	FAM47A	uc004ddg.3,p.M776I|ENST00000346193,p.M776I|NM_203408,p.M776I	protein_coding	uc004ddg.3	nonsynonymous SNV	exon1	c.G2328A	p.M776I	TYDSVKTPIQRAMIFYKYKEIVEAS	TYDSVKTPIQRAIIFYKYKEIVEAS	1.0	10.0	unscreened	-	3784_X:34148068-34148068 C>T_TYDSVKTPIQRAIIFYKYKEIVEAS
1:118166656-118166656 C>T	0.0	3784	MELANOMA	-	-	-	1	FAM46C	uc001ehe.3,p.P389L|NM_017709,p.P389L|uc021osq.1,p.P389L|ENST00000369448,p.P389L	protein_coding	uc021osq.1	nonsynonymous SNV	exon1	c.C1166T	p.P389L	PVTYSQPYPTWLPCN	PVTYSQPYPTWLLCN	5.0	5.0	unscreened	-	3784_1:118166656-118166656 C>T_PVTYSQPYPTWLLCN
16:19477416-19477416 G>A	0.0	3784	MELANOMA	-	-	-	-	TMC5	NM_001105249,p.D500N|ENST00000219821,p.D254N|ENST00000561503,p.D141N|uc010vaq.2,p.D500N|ENST00000542583,p.D500N|uc002dgf.4,p.D183N|uc002dgc.4,p.D500N|NM_001261841,p.D500N|uc002dgg.4,p.D141N|ENST00000564959,p.D183N|uc002dgd.1,p.D254N|uc010var.2,p.D500N|uc002dgb.4,p.D500N|NM_001105248,p.D500N|ENST00000396229,p.D500N|NM_024780,p.D254N|ENST00000381414,p.D500N|ENST00000541464,p.D500N|uc002dge.4,p.D254N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010var.2	nonsynonymous SNV	exon9	c.G1498A	p.D500N	GLEFFTGVGYFRDTVMYYGFYTNST	GLEFFTGVGYFRNTVMYYGFYTNST	1.0	9.0	unscreened	-	3784_16:19477416-19477416 G>A_GLEFFTGVGYFRNTVMYYGFYTNST
10:115595008-115595008 G>T	1.0	3784	MELANOMA	-	-	-	-	DCLRE1A	NM_014881,p.P1009H|uc001law.3,p.P1009H|uc031pxf.1,p.P1009H|ENST00000361384,p.P1009H|NM_001271816,p.P1009H|ENST00000369305,p.P1009H	protein_coding, processed_transcript	uc031pxf.1	nonsynonymous SNV	exon10	c.C3026A	p.P1009H	YLEMKRFVQWLKPQKIIPTVNVGTW	YLEMKRFVQWLKHQKIIPTVNVGTW	5.0	10.0	-	-	3784_10:115595008-115595008 G>T_YLEMKRFVQWLKHQKIIPTVNVGTW
19:22574928-22574928 C>T	0.0	3784	MELANOMA	-	-	-	-	ZNF98	ENST00000357774,p.R370K|uc002nqt.2,p.R370K|NM_001098626,p.R370K	protein_coding, processed_transcript	uc002nqt.2	nonsynonymous SNV	exon4	c.G1109A	p.R370K	AFSRLSHLTTHKRIHSGEKPYKCEE	AFSRLSHLTTHKKIHSGEKPYKCEE	1.0	7.0	unscreened	-	3784_19:22574928-22574928 C>T_AFSRLSHLTTHKKIHSGEKPYKCEE
15:34130207-34130207 C>T	0.0	3784	MELANOMA	-	-	-	-	RYR3	ENST00000389232,p.S4009F|NM_001243996,p.S4004F|ENST00000415757,p.S4004F|uc010bar.3,p.S4004F|NM_001036,p.S4009F|uc001zhi.3,p.S4009F	retained_intron, protein_coding, processed_transcript	uc010bar.3	nonsynonymous SNV	exon88	c.C12011T	p.S4004F	LLTNLSEHMPNDSRLKCLLDPAESV	LLTNLSEHMPNDFRLKCLLDPAESV	1.0	4.0	unscreened	-	3784_15:34130207-34130207 C>T_LLTNLSEHMPNDFRLKCLLDPAESV
5:140174731-140174731 C>T	0.0	3784	MELANOMA	-	-	-	-	PCDHA2	ENST00000378132,p.P61L|ENST00000520672,p.P61L|NM_031495,p.P61L|ENST00000526136,p.P61L|NM_018905,p.P61L|NM_031496,p.P61L|uc011czy.2,p.P61L|uc003lhc.1,p.P61L|uc003lhd.2,p.P61L	protein_coding	uc011czy.2	nonsynonymous SNV	exon1	c.C182T	p.P61L	AQDLGLELEELVPRLFRVASKRHGD	AQDLGLELEELVLRLFRVASKRHGD	1.0	8.0	unscreened	-	3784_5:140174731-140174731 C>T_AQDLGLELEELVLRLFRVASKRHGD
19:9204677-9204677 G>A	0.0	3784	MELANOMA	-	-	-	-	OR1M1	ENST00000429566,p.G253R|NM_001004456,p.G253R|uc010xkj.2,p.G253R	protein_coding	uc010xkj.2	nonsynonymous SNV	exon1	c.G757A	p.G253R	CSSHLSVVALFYGTTIGVYLCPSSV	CSSHLSVVALFYRTTIGVYLCPSSV	1.0	6.0	unscreened	-	3784_19:9204677-9204677 G>A_CSSHLSVVALFYRTTIGVYLCPSSV
3:123512628-123512628 G>A	0.0	3784	MELANOMA	-	-	-	-	MYLK	ENST00000360772,p.P21S|ENST00000359169,p.P21S|NM_053025,p.P21S|uc003egq.3,p.P21S|NM_053028,p.P21S|ENST00000475616,p.P21S|uc003egr.3,p.P21S|uc003egp.3,p.P21S|uc003ego.3,p.P21S|NM_053027,p.P21S|ENST00000464489,p.P21S|ENST00000360304,p.P21S|ENST00000346322,p.P21S|NM_053026,p.P21S|uc011bjw.2,p.P21S|uc003egu.1,p.P31S|uc010hrs.1,p.P21S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bjw.2	nonsynonymous SNV	exon1	c.C61T	p.P21S	SSHISKTSLSVDPSRVDSMPLTEAP	SSHISKTSLSVDSSRVDSMPLTEAP	10.0	6.0	unscreened	-	3784_3:123512628-123512628 G>A_SSHISKTSLSVDSSRVDSMPLTEAP
2:234622100-234622100 C>T	0.0	3784	MELANOMA	-	-	-	-	UGT1A5	ENST00000373414,p.H155Y|uc010zmz.1,p.H155Y|NM_019078,p.H155Y|uc002vuw.3,p.H155Y	protein_coding	uc010zmz.1	nonsynonymous SNV	exon1	c.C463T	p.H155Y	ATSFDVVLTDPFHLCAAVLAKYLSI	ATSFDVVLTDPFYLCAAVLAKYLSI	1.0	8.0	unscreened	-	3784_2:234622100-234622100 C>T_ATSFDVVLTDPFYLCAAVLAKYLSI
20:33875186-33875186 G>A	0.0	3784	MELANOMA	-	-	-	-	FAM83C	NM_178468,p.P466S|uc002xcb.1,p.P121S|uc021wck.1,p.P466S|ENST00000374408,p.P466S	protein_coding	uc021wck.1	nonsynonymous SNV	exon4	c.C1396T	p.P466S	QFHRGAPALSRFPENGLPGSQEPSP	QFHRGAPALSRFSENGLPGSQEPSP	1.0	5.0	unscreened	-	3784_20:33875186-33875186 G>A_QFHRGAPALSRFSENGLPGSQEPSP
8:24346778-24346778 C>T	0.0	3784	MELANOMA	-	-	ID=COSM1699854;OCCURENCE=1(skin)	-	ADAM7	ENST00000520720,p.H172Y|ENST00000380789,p.H400Y|NM_003817,p.H400Y|uc003xec.3,p.H172Y|uc003xeb.3,p.H400Y|ENST00000175238,p.H400Y	protein_coding	uc003xec.3	nonsynonymous SNV	exon6	c.C514T	p.H172Y	TCMLNIPFPYNFHDFQFCGNKKLDE	TCMLNIPFPYNFYDFQFCGNKKLDE	1.0	10.0	unscreened	-	3784_8:24346778-24346778 C>T_TCMLNIPFPYNFYDFQFCGNKKLDE
10:37482118-37482118 C>T	0.0	3784	MELANOMA	-	-	-	-	ANKRD30A	ENST00000374660,p.P912L|NM_052997,p.P793L|ENST00000602533,p.P793L|uc001iza.1,p.P793L|ENST00000361713,p.P793L|uc021ppc.1,p.P793L	protein_coding, processed_transcript	uc021ppc.1	nonsynonymous SNV	exon27	c.C2378T	p.P793L	EESPDNDGFLKAPCRMKVSIPTKAL	EESPDNDGFLKALCRMKVSIPTKAL	1.0	7.0	unscreened	-	3784_10:37482118-37482118 C>T_EESPDNDGFLKALCRMKVSIPTKAL
19:22156602-22156602 G>A	0.0	3784	MELANOMA	-	-	-	-	ZNF208	NM_007153,p.L412F|ENST00000397126,p.L412F|uc021urr.1,p.L412F	protein_coding	uc021urr.1	nonsynonymous SNV	exon4	c.C1234T	p.L412F	EECGKGFSMFSILTKHEVIHTGEKP	EECGKGFSMFSIFTKHEVIHTGEKP	3.0	2.0	unscreened	-	3784_19:22156602-22156602 G>A_EECGKGFSMFSIFTKHEVIHTGEKP
1:234367366-234367366 T>C	0.0	3784	MELANOMA	-	-	-	-	SLC35F3	NM_001300845,p.F94L|uc001hvy.1,p.F163L|ENST00000366618,p.F163L|uc001hwa.1,p.F94L|NM_173508,p.F163L|ENST00000366617,p.F94L	protein_coding	uc001hwa.1	nonsynonymous SNV	exon2	c.T280C	p.F94L	GSTQLAKLTFRKFDAPFTLTWFATN	GSTQLAKLTFRKLDAPFTLTWFATN	1.0	10.0	unscreened	-	3784_1:234367366-234367366 T>C_GSTQLAKLTFRKLDAPFTLTWFATN
15:73659846-73659846 G>C	0.0	3784	MELANOMA	-	-	-	-	HCN4	uc002avp.3,p.H256D|ENST00000261917,p.H256D|NM_005477,p.H256D	protein_coding	uc002avp.3	nonsynonymous SNV	exon1	c.C766G	p.H256D	QERVKSAGFWIIHPYSDFRFYWDLT	QERVKSAGFWIIDPYSDFRFYWDLT	1.0	6.0	unscreened	-	3784_15:73659846-73659846 G>C_QERVKSAGFWIIDPYSDFRFYWDLT
3:120357353-120357353 G>A	0.0	3784	MELANOMA	-	-	-	-	HGD	uc003edv.3,p.P178S|uc003edw.3,p.P319S|ENST00000283871,p.P319S|NM_000187,p.P319S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003edw.3	nonsynonymous SNV	exon12	c.C955T	p.P319S	RPGVAIADFVIFPPRWGVADKTFRP	RPGVAIADFVIFSPRWGVADKTFRP	1.0	6.0	unscreened	-	3784_3:120357353-120357353 G>A_RPGVAIADFVIFSPRWGVADKTFRP
7:22202038-22202038 C>T	0.0	3784	MELANOMA	-	-	-	-	RAPGEF5	ENST00000401957,p.E166K|NM_012294,p.E316K|ENST00000344041,p.E316K|ENST00000458533,p.E54K|uc003svg.3,p.E316K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003svg.3	nonsynonymous SNV	exon13	c.G946A	p.E316K	WIALYKDWLPEDEHSKMFLKTIYRN	WIALYKDWLPEDKHSKMFLKTIYRN	6.0	9.0	unscreened	-	3784_7:22202038-22202038 C>T_WIALYKDWLPEDKHSKMFLKTIYRN
14:105169711-105169711 C>T	1.0	3784	MELANOMA	-	-	-	-	INF2	NM_001031714,p.T196I|ENST00000392634,p.T196I|uc001ypc.2,p.T196I|NM_022489,p.T196I|uc001ypb.2,p.T196I|uc001yoy.4,p.T196I|ENST00000398337,p.T196I|NM_032714,p.T196I|ENST00000330634,p.T196I	retained_intron, protein_coding, nonsense_mediated_decay	uc001ypc.2	nonsynonymous SNV	exon4	c.C587T	p.T196I	ELSGSDNVPYVVTLLSVINAVILGP	ELSGSDNVPYVVILLSVINAVILGP	9.0	6.0	-	-	3784_14:105169711-105169711 C>T_ELSGSDNVPYVVILLSVINAVILGP
1:115523987-115523987 G>A	0.0	3784	MELANOMA	-	-	-	-	SYCP1	NM_001282542,p.E780K|NM_001282541,p.E805K|ENST00000369518,p.E805K|uc001efr.3,p.E805K|NM_003176,p.E805K|uc009wgw.3,p.E780K|uc001efq.3,p.E805K|ENST00000369522,p.E805K	protein_coding, processed_transcript	uc009wgw.3	nonsynonymous SNV	exon28	c.G2338A	p.E780K	DKKTQTFLLETPEIYWKLDSKAVPS	DKKTQTFLLETPKIYWKLDSKAVPS	1.0	4.0	unscreened	-	3784_1:115523987-115523987 G>A_DKKTQTFLLETPKIYWKLDSKAVPS
1:204951041-204951041 T>G	0.0	3784	MELANOMA	-	-	-	-	NFASC	ENST00000338515,p.V788G|ENST00000539706,p.V784G|ENST00000367170,p.V788G|ENST00000513543,p.V784G|uc001hbj.3,p.V788G|ENST00000367172,p.V788G|ENST00000401399,p.V788G|ENST00000367171,p.V773G|uc010prb.2,p.V799G|ENST00000339876,p.V788G|uc001hbi.3,p.V784G|uc001hbk.1,p.V594G|ENST00000404907,p.V784G|ENST00000360049,p.V784G|NM_001160332,p.V784G|ENST00000430393,p.V775G|uc001hbl.2,p.V38G|NM_001160331,p.V799G|uc010pra.2,p.V784G|ENST00000404076,p.V767G|uc010prc.2,p.V355G|ENST00000338586,p.V788G|NM_015090,p.V784G|NM_001005388,p.V788G|ENST00000367169,p.V788G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010prc.2	nonsynonymous SNV	exon20	c.T1064G	p.V355G	WNNVTVWGSRYVVGQTPVYVPYEIR	WNNVTVWGSRYVGGQTPVYVPYEIR	5.0	10.0	unscreened	-	3784_1:204951041-204951041 T>G_WNNVTVWGSRYVGGQTPVYVPYEIR
17:7366229-7366229 C>T	1.0	3784	MELANOMA	-	-	-	-	ZBTB4	ENST00000380599,p.R691Q|NM_020899,p.R691Q|NM_001128833,p.R691Q|uc002ghd.4,p.R691Q|ENST00000311403,p.R691Q|uc002ghc.4,p.R691Q	protein_coding	uc002ghd.4	nonsynonymous SNV	exon4	c.G2072A	p.R691Q	AGGASVGGSGLPRGRRPPRWRQKLE	AGGASVGGSGLPQGRRPPRWRQKLE	7.0	6.0	-	-	3784_17:7366229-7366229 C>T_AGGASVGGSGLPQGRRPPRWRQKLE
1:12820705-12820705 C>T	0.0	3784	MELANOMA	-	-	-	-	C1orf158	NM_152290,p.P136S|uc001auh.3,p.P136S|ENST00000288048,p.P136S|ENST00000376210,p.P98S	protein_coding, processed_transcript	uc001auh.3	nonsynonymous SNV	exon4	c.C406T	p.P136S	WLPEKSDFPLLAPPTNYGLYEQLKQ	WLPEKSDFPLLASPTNYGLYEQLKQ	1.0	7.0	unscreened	-	3784_1:12820705-12820705 C>T_WLPEKSDFPLLASPTNYGLYEQLKQ
3:69988295-69988295 C>T	1.0	3784	MELANOMA	-	-	-	1	MITF	uc011bgb.2,p.P158L|NM_198158,p.P103L|ENST00000448226,p.P210L|uc003doe.3,p.P103L|uc003dob.3,p.P194L|ENST00000451708,p.P194L|NM_198178,p.P47L|ENST00000328528,p.P209L|ENST00000472437,p.P158L|ENST00000314557,p.P103L|ENST00000352241,p.P210L|uc021xam.1,p.P47L|NM_198159,p.P210L|NM_000248,p.P103L|uc003doa.3,p.P209L|uc003dnz.3,p.P210L|NM_001184967,p.P158L|ENST00000394355,p.P185L|uc003dof.3,p.P103L|ENST00000433517,p.P102L|ENST00000531774,p.P47L|NM_006722,p.P209L|ENST00000314589,p.P194L|ENST00000394351,p.P103L|NM_198177,p.P194L	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xam.1	nonsynonymous SNV	exon3	c.C140T	p.P47L	KFEEQNRAESECPGMNTHSRASCMQ	KFEEQNRAESECLGMNTHSRASCMQ	10.0	2.0	-	-	3784_3:69988295-69988295 C>T_KFEEQNRAESECLGMNTHSRASCMQ
11:58605769-58605769 C>T	0.0	3784	MELANOMA	-	-	-	-	GLYATL2	uc009ymq.3,p.D51N|ENST00000287275,p.D51N|uc001nnd.4,p.D51N|ENST00000532258,p.D51N|NM_145016,p.D51N	protein_coding, processed_transcript	uc009ymq.3	nonsynonymous SNV	exon4	c.G151A	p.D51N	PFNMEVLVDAWPDYQIVITRPQKQE	PFNMEVLVDAWPNYQIVITRPQKQE	1.0	7.0	unscreened	-	3784_11:58605769-58605769 C>T_PFNMEVLVDAWPNYQIVITRPQKQE
1:94546268-94546268 G>A	0.0	3784	MELANOMA	-	-	-	-	ABCA4	ENST00000370225,p.H289Y|NM_000350,p.H289Y|uc010otn.1,p.H289Y|ENST00000535735,p.H289Y|uc001dqh.3,p.H289Y	protein_coding, processed_transcript	uc010otn.1	nonsynonymous SNV	exon8	c.C865T	p.H289Y	LSDMSPRIQEFIHRPSMQDLLWVTR	LSDMSPRIQEFIYRPSMQDLLWVTR	2.0	7.0	unscreened	-	3784_1:94546268-94546268 G>A_LSDMSPRIQEFIYRPSMQDLLWVTR
6:44253954-44253954 G>A	0.0	3784	MELANOMA	-	-	-	-	TCTE1	NM_182539,p.P198L|uc003oxi.2,p.P198L|ENST00000371505,p.P198L|ENST00000371504,p.P45L|ENST00000371503,p.P45L	protein_coding	uc003oxi.2	nonsynonymous SNV	exon3	c.C593T	p.P198L	NYVRRVHVDQFLPPVQLPAQLRPGD	NYVRRVHVDQFLLPVQLPAQLRPGD	1.0	3.0	unscreened	-	3784_6:44253954-44253954 G>A_NYVRRVHVDQFLLPVQLPAQLRPGD
1:82433819-82433819 G>A	1.0	3784	MELANOMA	-	-	ID=COSM230861;OCCURENCE=1(skin)	-	LPHN2	ENST00000370717,p.R816Q|NM_001297704,p.R803Q|uc009wcd.3,p.R803Q|ENST00000359929,p.R803Q|ENST00000370721,p.R741Q|ENST00000370727,p.R816Q|uc001div.3,p.R803Q|NM_001297705,p.R803Q|ENST00000370725,p.R816Q|ENST00000370728,p.R816Q|uc001diu.3,p.R803Q|ENST00000370723,p.R803Q|ENST00000319517,p.R803Q|ENST00000394879,p.R803Q|uc001diw.3,p.R387Q|ENST00000370730,p.R816Q|ENST00000335786,p.R816Q|ENST00000370715,p.R803Q|ENST00000271029,p.R816Q|ENST00000370713,p.R803Q|NM_012302,p.R803Q|uc001dit.4,p.R803Q|NM_001297706,p.R803Q	protein_coding, processed_transcript	uc009wcd.3	nonsynonymous SNV	exon12	c.G2408A	p.R803Q	TQGCKLVDTNKTRTTCACSHLTNFA	TQGCKLVDTNKTQTTCACSHLTNFA	10.0	4.0	-	-	3784_1:82433819-82433819 G>A_TQGCKLVDTNKTQTTCACSHLTNFA
19:56320267-56320267 A>G	0.0	3784	MELANOMA	-	-	-	-	NLRP11	ENST00000589093,p.V570A|ENST00000592953,p.V471A|NM_001297743,p.V471A|ENST00000443188,p.V570A|NM_145007,p.V570A|ENST00000593244,p.V570A|uc010ygf.2,p.V570A|uc002qlz.3,p.V471A|ENST00000589824,p.V570A|uc002qmb.3,p.V471A|ENST00000360133,p.V570A|ENST00000590409,p.V471A	protein_coding, nonsense_mediated_decay	uc010ygf.2	nonsynonymous SNV	exon5	c.T1709C	p.V570A	VKTIVDALMEVTVYLQSDKDMMVSL	VKTIVDALMEVTAYLQSDKDMMVSL	1.0	7.0	unscreened	-	3784_19:56320267-56320267 A>G_VKTIVDALMEVTAYLQSDKDMMVSL
9:138662282-138662282 C>A	0.0	3784	MELANOMA	-	-	-	-	KCNT1	ENST00000491806,p.H553Q|ENST00000490355,p.H567Q|ENST00000487664,p.H541Q|ENST00000371757,p.H586Q|uc011mdq.2,p.H586Q|NM_001272003,p.H541Q|NM_020822,p.H586Q|ENST00000486577,p.H547Q|uc011mdr.2,p.H413Q|ENST00000488444,p.H567Q|ENST00000298480,p.H586Q|uc010nbf.3,p.H541Q|ENST00000263604,p.H567Q|uc004cgo.1,p.H335Q	retained_intron, protein_coding, nonsense_mediated_decay	uc011mdr.2	nonsynonymous SNV	exon17	c.C1239A	p.H413Q	EYEGKSFTYAAFHAHKKYGVCLIGL	EYEGKSFTYAAFQAHKKYGVCLIGL	1.0	9.0	unscreened	-	3784_9:138662282-138662282 C>A_EYEGKSFTYAAFQAHKKYGVCLIGL
18:61569099-61569099 C>T	0.0	3784	MELANOMA	-	-	-	-	SERPINB2	ENST00000457692,p.P221S|ENST00000299502,p.P221S|uc010xeu.2,p.P221S|uc002ljo.3,p.P221S|uc002ljq.1,p.P26S|NM_001143818,p.P221S|NM_002575,p.P221S|uc002ljp.1,p.P26S	protein_coding, processed_transcript	uc010xeu.2	nonsynonymous SNV	exon7	c.C661T	p.P221S	KTPFEKKLNGLYPFRVNSAQRTPVQ	KTPFEKKLNGLYSFRVNSAQRTPVQ	1.0	1.0	unscreened	-	3784_18:61569099-61569099 C>T_KTPFEKKLNGLYSFRVNSAQRTPVQ
2:179632799-179632799 C>T	0.0	3784	MELANOMA	-	-	-	-	TTN	ENST00000359218,p.E3037K|NM_001267550,p.E3083K|NM_133432,p.E3037K|ENST00000342175,p.E3037K|ENST00000460472,p.E3037K|uc031rqc.1,p.E3083K|uc021vta.2,p.E3037K|uc031rqd.1,p.E3083K|ENST00000589042,p.E3083K|uc021vsy.2,p.E3083K|NM_001256850,p.E3083K|ENST00000342992,p.E3083K|uc021vsz.2,p.E3037K|ENST00000360870,p.E3083K|NM_133437,p.E3037K|NM_133378,p.E3083K|NM_133379,p.E3083K|uc021vtb.2,p.E3037K|NM_003319,p.E3037K|ENST00000591111,p.E3083K|uc002unb.3,p.E3083K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon39	c.G9247A	p.E3083K	EKKRAMFECEVSEPDITVQWMKDDQ	EKKRAMFECEVSKPDITVQWMKDDQ	3.0	4.0	unscreened	-	3784_2:179632799-179632799 C>T_EKKRAMFECEVSKPDITVQWMKDDQ
4:118975801-118975801 C>T	0.0	3784	MELANOMA	-	-	-	-	NDST3	uc003ibx.3,p.P246S|ENST00000433996,p.P246S|ENST00000296499,p.P246S|NM_004784,p.P246S|uc003ibw.3,p.P246S|uc011cgf.1,p.P246S	retained_intron, protein_coding	uc011cgf.1	nonsynonymous SNV	exon2	c.C736T	p.P246S	IFAKVKTPENLSPSISKGAFYATII	IFAKVKTPENLSSSISKGAFYATII	1.0	7.0	unscreened	-	3784_4:118975801-118975801 C>T_IFAKVKTPENLSSSISKGAFYATII
4:177142721-177142721 G>A	0.0	3784	MELANOMA	-	-	-	-	ASB5	uc003iuq.2,p.P139S|ENST00000512254,p.P86S|ENST00000296525,p.P139S|uc003iup.2,p.P86S|NM_080874,p.P139S	protein_coding, processed_transcript	uc003iuq.2	nonsynonymous SNV	exon4	c.C415T	p.P139S	ANVNAITIDGVTPLFNACSQGSPSC	ANVNAITIDGVTSLFNACSQGSPSC	2.0	6.0	unscreened	-	3784_4:177142721-177142721 G>A_ANVNAITIDGVTSLFNACSQGSPSC
10:26442833-26442833 C>T	0.0	3784	MELANOMA	-	-	-	-	MYO3A	uc001isn.2,p.S897L|uc009xko.1,p.S897L|NM_017433,p.S897L|ENST00000265944,p.S897L	protein_coding, processed_transcript	uc009xko.1	nonsynonymous SNV	exon24	c.C2690T	p.S897L	KTKNVINYQMRTSEKLINLAKGDTG	KTKNVINYQMRTLEKLINLAKGDTG	1.0	1.0	unscreened	-	3784_10:26442833-26442833 C>T_KTKNVINYQMRTLEKLINLAKGDTG
6:24456865-24456865 C>T	0.0	3784	MELANOMA	-	-	-	-	GPLD1	uc010jps.1,p.D337N|uc003ned.2,p.D337N|ENST00000230036,p.D337N|NM_001503,p.D337N|uc010jpr.1,p.D174N	retained_intron, protein_coding, processed_transcript	uc010jps.1	nonsynonymous SNV	exon13	c.G1009A	p.D337N	RGVFFSVNSWTPDSMSFIYKALERN	RGVFFSVNSWTPNSMSFIYKALERN	2.0	2.0	unscreened	-	3784_6:24456865-24456865 C>T_RGVFFSVNSWTPNSMSFIYKALERN
15:40751189-40751189 C>T	0.0	3784	MELANOMA	-	-	-	-	BAHD1	NM_014952,p.L176F|uc010bbp.1,p.L176F|uc001zlt.2,p.L176F|ENST00000560846,p.L176F|ENST00000416165,p.L176F|NM_001301132,p.L176F|uc001zlu.2,p.L176F|uc001zlv.2,p.L176F|ENST00000561234,p.L176F	retained_intron, protein_coding	uc010bbp.1	nonsynonymous SNV	exon2	c.C526T	p.L176F	WSSSKKRPRLGDLGGGSRDLSPEPA	WSSSKKRPRLGDFGGGSRDLSPEPA	6.0	4.0	unscreened	-	3784_15:40751189-40751189 C>T_WSSSKKRPRLGDFGGGSRDLSPEPA
5:157065259-157065259 C>T	0.0	3784	MELANOMA	-	-	-	-	SOX30	uc003lxb.1,p.G620E|NM_178424,p.G620E|ENST00000265007,p.G620E|ENST00000519442,p.G315E|uc011dds.1,p.G315E	protein_coding	uc011dds.1	nonsynonymous SNV	exon5	c.G944A	p.G315E	PRFSFHHPYFLPGPHYFPSSTCPYS	PRFSFHHPYFLPEPHYFPSSTCPYS	1.0	4.0	unscreened	-	3784_5:157065259-157065259 C>T_PRFSFHHPYFLPEPHYFPSSTCPYS
7:86416366-86416366 G>A	0.0	3784	MELANOMA	-	-	-	2	GRM3	uc010leg.3,p.D292N|ENST00000361669,p.D420N|ENST00000536043,p.D292N|NM_000840,p.D420N|uc010lef.3,p.D418N|uc003uid.3,p.D420N|ENST00000394720,p.D418N|ENST00000439827,p.D420N	protein_coding	uc010leg.3	nonsynonymous SNV	exon2	c.G874A	p.D292N	QRTLCPNTTKLCDAMKILDGKKLYK	QRTLCPNTTKLCNAMKILDGKKLYK	1.0	2.0	unscreened	-	3784_7:86416366-86416366 G>A_QRTLCPNTTKLCNAMKILDGKKLYK
8:135490781-135490781 C>T	1.0	3784	MELANOMA	-	-	-	-	ZFAT	uc010mej.3,p.E1164K|NM_001289394,p.E1214K|uc010meh.3,p.E1128K|NM_001167583,p.E1214K|NM_001029939,p.E1214K|uc003yup.3,p.E1226K|uc003yuq.3,p.E1214K|ENST00000520356,p.E1128K|ENST00000521673,p.E146K|ENST00000520214,p.E1214K|uc003yun.3,p.E1214K|ENST00000523399,p.E1164K|ENST00000377838,p.E1226K|NM_001174157,p.E1164K|NM_001174158,p.E1128K|ENST00000520727,p.E1214K|NM_020863,p.E1226K|uc011ljj.2,p.E345K|uc003yuo.3,p.E1214K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ljj.2	nonsynonymous SNV	exon6	c.G1033A	p.E345K	GGEASEFIVYVQEAMQPVEEQAVEQ	GGEASEFIVYVQKAMQPVEEQAVEQ	6.0	3.0	-	-	3784_8:135490781-135490781 C>T_GGEASEFIVYVQKAMQPVEEQAVEQ
22:16266972-16266972 C>T	0.0	3784	MELANOMA	-	-	-	-	POTEH	uc002zlh.1,p.E212K|ENST00000343518,p.E493K|uc010gqp.2,p.E493K|NM_001136213,p.E493K|uc002zlj.1,p.E328K	protein_coding, nonsense_mediated_decay	uc010gqp.2	nonsynonymous SNV	exon9	c.G1477A	p.E493K	DGLIPPRKSRTPESQQFPDTENEQY	DGLIPPRKSRTPKSQQFPDTENEQY	1.0	1.0	unscreened	-	3784_22:16266972-16266972 C>T_DGLIPPRKSRTPKSQQFPDTENEQY
5:140516187-140516187 C>T	0.0	3784	MELANOMA	-	-	ID=COSM137437;OCCURENCE=1(skin)	-	PCDHB5	NM_015669,p.L391F|uc003liq.3,p.L391F|ENST00000231134,p.L391F	protein_coding	uc003liq.3	nonsynonymous SNV	exon1	c.C1171T	p.L391F	RMICSIQNDLPFLLKPTLKNFYTLV	RMICSIQNDLPFFLKPTLKNFYTLV	2.0	4.0	unscreened	-	3784_5:140516187-140516187 C>T_RMICSIQNDLPFFLKPTLKNFYTLV
2:189909939-189909939 C>T	1.0	3784	MELANOMA	-	-	-	-	COL5A2	NM_000393,p.G1110E|uc002uqk.3,p.G1110E|ENST00000374866,p.G1110E|uc010frx.3,p.G686E	retained_intron, protein_coding	uc010frx.3	nonsynonymous SNV	exon31	c.G2057A	p.G686E	GQRGDPGSRGPIGPPGRAGKRGLPG	GQRGDPGSRGPIEPPGRAGKRGLPG	9.0	8.0	-	-	3784_2:189909939-189909939 C>T_GQRGDPGSRGPIEPPGRAGKRGLPG
11:55595330-55595330 G>A	0.0	3784	MELANOMA	-	-	-	-	OR5L2	ENST00000378397,p.M212I|uc001nhy.1,p.M212I|NM_001004739,p.M212I	protein_coding	uc001nhy.1	nonsynonymous SNV	exon1	c.G636A	p.M212I	FLVATLNESVTIMIILTSYLLILTT	FLVATLNESVTIIIILTSYLLILTT	1.0	10.0	unscreened	-	3784_11:55595330-55595330 G>A_FLVATLNESVTIIIILTSYLLILTT
12:121711959-121711959 G>A	1.0	3784	MELANOMA	-	-	-	-	CAMKK2	ENST00000347034,p.P124L|ENST00000392473,p.P124L|NM_001270486,p.P124L|NM_153500,p.P124L|NM_172226,p.P124L|uc001uaa.2,p.P124L|NM_172214,p.P124L|uc001tzt.3,p.P124L|NM_172216,p.P124L|ENST00000538733,p.P124L|uc001uad.2,p.P124L|ENST00000337174,p.P124L|ENST00000412367,p.P124L|ENST00000324774,p.P124L|uc001tzx.3,p.P124L|uc001tzw.3,p.P124L|NM_153499,p.P124L|uc001uab.3,p.P124L|uc001tzy.3,p.P124L|NM_172215,p.P124L|uc001tzv.3,p.P124L|NM_006549,p.P124L|ENST00000402834,p.P124L|NM_001270485,p.P124L|ENST00000392474,p.P124L|uc001tzu.3,p.P124L|uc001uac.3,p.P124L|ENST00000404169,p.P124L|ENST00000446440,p.P124L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uad.2	nonsynonymous SNV	exon3	c.C371T	p.P124L	GGSLDMNGRCICPSLPYSPVSSPQS	GGSLDMNGRCICLSLPYSPVSSPQS	7.0	5.0	-	-	3784_12:121711959-121711959 G>A_GGSLDMNGRCICLSLPYSPVSSPQS
3:150834219-150834219 A>G	0.0	3784	MELANOMA	-	-	-	-	MED12L	uc003eyn.3,p.N65S|ENST00000309237,p.N65S|ENST00000422248,p.N65S|uc003eym.1,p.N65S|NM_053002,p.N65S|uc003eyp.3,p.N65S|ENST00000273432,p.N65S|uc011bnz.2,p.N65S|ENST00000474524,p.N65S|uc003eyo.3,p.N65S	protein_coding, processed_transcript	uc011bnz.2	nonsynonymous SNV	exon2	c.A194G	p.N65S	GDEHGSARNIVINPSKIGAYFSSIL	GDEHGSARNIVISPSKIGAYFSSIL	1.0	3.0	unscreened	-	3784_3:150834219-150834219 A>G_GDEHGSARNIVISPSKIGAYFSSIL
16:3406478-3406478 G>A	0.0	3784	MELANOMA	0.0009	-	-	-	OR2C1	uc002cuw.1,p.E180K|ENST00000304936,p.E180K|NM_012368,p.E180K	protein_coding	uc002cuw.1	nonsynonymous SNV	exon1	c.G538A	p.E180K	LCGHRRVEGFLCEVPAMIKLACGDT	LCGHRRVEGFLCKVPAMIKLACGDT	1.0	9.0	unscreened	-	3784_16:3406478-3406478 G>A_LCGHRRVEGFLCKVPAMIKLACGDT
3:142413353-142413353 C>T	0.0	3784	MELANOMA	-	-	-	-	PLS1	uc010huv.3,p.S407F|NM_002670,p.S407F|uc003euz.3,p.S407F|uc003eva.3,p.S407F|ENST00000497002,p.S407F|NM_001172312,p.S407F|NM_001145319,p.S407F|ENST00000457734,p.S407F|ENST00000337777,p.S407F	retained_intron, protein_coding	uc010huv.3	nonsynonymous SNV	exon11	c.C1220T	p.S407F	SKEERTFRNWMNSLGVNPYINHLYS	SKEERTFRNWMNFLGVNPYINHLYS	5.0	3.0	unscreened	-	3784_3:142413353-142413353 C>T_SKEERTFRNWMNFLGVNPYINHLYS
6:28540923-28540923 G>A	0.0	3784	MELANOMA	-	-	-	-	ZBED9	NM_052923,p.L915F|uc003nlo.3,p.L915F|ENST00000452236,p.L915F	protein_coding, processed_transcript	uc003nlo.3	nonsynonymous SNV	exon4	c.C2743T	p.L915F	LDECRDIANMIILLVYVRFEHDDDI	LDECRDIANMIIFLVYVRFEHDDDI	1.0	3.0	unscreened	-	3784_6:28540923-28540923 G>A_LDECRDIANMIIFLVYVRFEHDDDI
9:35675919-35675919 G>A	0.0	3784	MELANOMA	-	-	-	-	CA9	ENST00000378357,p.G199S|NM_001216,p.G199S|uc003zxo.4,p.G199S	protein_coding, processed_transcript	uc003zxo.4	nonsynonymous SNV	exon3	c.G595A	p.G199S	LPPLPELRLRNNGHSVQLTLPPGLE	LPPLPELRLRNNSHSVQLTLPPGLE	2.0	1.0	unscreened	-	3784_9:35675919-35675919 G>A_LPPLPELRLRNNSHSVQLTLPPGLE
7:73752819-73752819 C>T	0.0	3784	MELANOMA	-	-	-	-	CLIP2	uc003uam.3,p.P55S|ENST00000361545,p.P55S|uc003uan.3,p.P55S|ENST00000223398,p.P55S|ENST00000395060,p.P55S|NM_003388,p.P55S|NM_032421,p.P55S	retained_intron, protein_coding	uc003uan.3	nonsynonymous SNV	exon3	c.C163T	p.P55S	PLHKQSSGPSSSPAAAAAPEKPGPK	PLHKQSSGPSSSSAAAAAPEKPGPK	7.0	3.0	unscreened	-	3784_7:73752819-73752819 C>T_PLHKQSSGPSSSSAAAAAPEKPGPK
1:196577421-196577421 C>T	0.0	3784	MELANOMA	-	-	-	-	KCNT2	ENST00000367433,p.E7K|NM_001287819,p.E7K|ENST00000294725,p.E7K|uc009wyv.1,p.E7K|NM_198503,p.E7K|uc009wyu.3,p.E7K|uc001gtf.1,p.E7K|uc001gte.1,p.E7K|NM_001287820,p.E7K|uc001gtd.1,p.E7K|ENST00000367431,p.E7K	protein_coding, processed_transcript	uc009wyv.1	nonsynonymous SNV	exon1	c.G19A	p.E7K	MVDLESEVPPLPPRYRFRD	MVDLESKVPPLPPRYRFRD	3.0	10.0	unscreened	-	3784_1:196577421-196577421 C>T_MVDLESKVPPLPPRYRFRD
17:63533641-63533641 A>T	0.0	3784	MELANOMA	-	-	-	1	AXIN2	NM_004655,p.F505I|uc002jfh.3,p.F505I|ENST00000307078,p.F505I|ENST00000375702,p.F505I|uc002jfi.3,p.F505I	retained_intron, protein_coding	uc002jfi.3	nonsynonymous SNV	exon6	c.T1513A	p.F505I	SPGACPLLGGKGFVTKQTTKHVHHH	SPGACPLLGGKGIVTKQTTKHVHHH	4.0	9.0	unscreened	-	3784_17:63533641-63533641 A>T_SPGACPLLGGKGIVTKQTTKHVHHH
22:40066934-40066934 C>T	0.0	3784	MELANOMA	-	-	-	-	CACNA1I	ENST00000401624,p.S1505F|ENST00000404898,p.S1470F|ENST00000336649,p.S1511F|NM_001003406,p.S1470F|uc003ayc.3,p.S1505F|uc003ayd.3,p.S1470F|ENST00000400164,p.S1470F|uc003aye.3,p.S1420F|ENST00000407673,p.S1470F|uc003ayf.3,p.S1385F|ENST00000402142,p.S1505F|NM_021096,p.S1505F	protein_coding, processed_transcript	uc003ayf.3	nonsynonymous SNV	exon24	c.C4154T	p.S1385F	ITFIICLNVVTMSLEHYNQPTSLET	ITFIICLNVVTMFLEHYNQPTSLET	2.0	1.0	unscreened	-	3784_22:40066934-40066934 C>T_ITFIICLNVVTMFLEHYNQPTSLET
2:21238046-21238046 C>T	0.0	3784	MELANOMA	-	-	-	-	APOB	ENST00000233242,p.D1199N|NM_000384,p.D1199N|uc002red.3,p.D1199N	protein_coding	uc002red.3	nonsynonymous SNV	exon23	c.G3595A	p.D1199N	KKMTSNFPVDLSDYPKSLHMYANRL	KKMTSNFPVDLSNYPKSLHMYANRL	1.0	8.0	unscreened	-	3784_2:21238046-21238046 C>T_KKMTSNFPVDLSNYPKSLHMYANRL
5:100231433-100231433 C>T	0.0	3784	MELANOMA	-	-	ID=COSM277495;OCCURENCE=2(large_intestine),1(endometrium)	-	ST8SIA4	NM_005668,p.R57Q|uc003knl.3,p.R57Q|ENST00000231461,p.R57Q|NM_175052,p.R57Q|uc003knk.3,p.R57Q|ENST00000451528,p.R57Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc003knl.3	nonsynonymous SNV	exon2	c.G170A	p.R57Q	SRSLVNSSDKIIRKAGSSIFQHNVE	SRSLVNSSDKIIQKAGSSIFQHNVE	6.0	4.0	unscreened	-	3784_5:100231433-100231433 C>T_SRSLVNSSDKIIQKAGSSIFQHNVE
12:126138174-126138174 G>A	0.0	3784	MELANOMA	-	-	ID=COSM1229525;OCCURENCE=2(large_intestine)	-	TMEM132B	NM_052907,p.D719N|ENST00000299308,p.D719N|NM_001286219,p.D231N|ENST00000535886,p.D231N|uc001uhf.1,p.D231N|uc001uhe.1,p.D719N	retained_intron, protein_coding, processed_transcript	uc001uhf.1	nonsynonymous SNV	exon5	c.G691A	p.D231N	FSDGSVTPLDIYDPKDYSVTVSSLD	FSDGSVTPLDIYNPKDYSVTVSSLD	1.0	4.0	unscreened	-	3784_12:126138174-126138174 G>A_FSDGSVTPLDIYNPKDYSVTVSSLD
2:179456989-179456989 G>A	0.0	3784	MELANOMA	-	-	-	-	TTN	uc021vtb.2,p.P10816L|uc021vta.2,p.P10941L|ENST00000359218,p.P10941L|ENST00000342175,p.P11008L|NM_001256850,p.P18240L|NM_001267550,p.P19881L|ENST00000342992,p.P17313L|NM_133432,p.P10941L|ENST00000589042,p.P19881L|uc021vsz.2,p.P11008L|uc031rqd.1,p.P18240L|uc031rqc.1,p.P19881L|NM_133437,p.P11008L|uc021vsy.2,p.P17313L|ENST00000460472,p.P10816L|NM_003319,p.P10816L|NM_133378,p.P17313L|ENST00000591111,p.P18240L	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon252	c.C54719T	p.P18240L	SVKVLVLDKPGPPRDLEVSEIRKDS	SVKVLVLDKPGPLRDLEVSEIRKDS	3.0	9.0	unscreened	-	3784_2:179456989-179456989 G>A_SVKVLVLDKPGPLRDLEVSEIRKDS
7:63726958-63726958 G>A	0.0	3784	MELANOMA	-	-	-	-	ZNF679	ENST00000421025,p.R316K|ENST00000255746,p.R316K|uc003tsx.3,p.R316K|NM_153363,p.R316K	protein_coding	uc003tsx.3	nonsynonymous SNV	exon5	c.G947A	p.R316K	AFSLSSSLTYHKRIHTGEKPYTCEE	AFSLSSSLTYHKKIHTGEKPYTCEE	1.0	1.0	unscreened	-	3784_7:63726958-63726958 G>A_AFSLSSSLTYHKKIHTGEKPYTCEE
X:107802339-107802339 G>A	0.0	3784	MELANOMA	-	-	ID=COSM1715375;OCCURENCE=1(skin)	-	COL4A5	ENST00000361603,p.G63R|uc022ccg.2,p.G63R|NM_000495,p.G63R|uc004enz.2,p.G63R|ENST00000328300,p.G63R	retained_intron, protein_coding, processed_transcript	uc022ccg.2	nonsynonymous SNV	exon3	c.G187A	p.G63R	GFPGLEGHPGLPGFPGPEGPPGPRG	GFPGLEGHPGLPRFPGPEGPPGPRG	5.0	10.0	unscreened	-	3784_X:107802339-107802339 G>A_GFPGLEGHPGLPRFPGPEGPPGPRG
2:241808371-241808371 C>T	0.0	3784	MELANOMA	-	-	-	-	AGXT	uc010zoi.1,p.P30L|ENST00000307503,p.P30L|NM_000030,p.P30L|uc002waa.4,p.P30L	retained_intron, protein_coding	uc010zoi.1	nonsynonymous SNV	exon1	c.C89T	p.P30L	LSIPNQLLLGPGPSNLPPRIMAAGG	LSIPNQLLLGPGLSNLPPRIMAAGG	1.0	4.0	unscreened	-	3784_2:241808371-241808371 C>T_LSIPNQLLLGPGLSNLPPRIMAAGG
13:39425238-39425238 T>G	0.0	3784	MELANOMA	-	-	-	-	FREM2	ENST00000280481,p.D2245E|uc001uww.3,p.D331E|NM_207361,p.D2245E|uc001uwv.3,p.D2245E	protein_coding, processed_transcript	uc001uww.3	nonsynonymous SNV	exon7	c.T993G	p.D331E	GEQNETLIRIRDDADKTVIKFGETK	GEQNETLIRIRDEADKTVIKFGETK	2.0	10.0	unscreened	-	3784_13:39425238-39425238 T>G_GEQNETLIRIRDEADKTVIKFGETK
19:49574080-49574080 G>A	0.0	3784	MELANOMA	-	-	-	-	KCNA7	NM_031886,p.P204L|ENST00000221444,p.P204L|uc002pmg.3,p.P204L	protein_coding	uc002pmg.3	nonsynonymous SNV	exon2	c.C611T	p.P204L	GSSQMPGNPPRLPFNDPFFVVETLC	GSSQMPGNPPRLLFNDPFFVVETLC	1.0	6.0	unscreened	-	3784_19:49574080-49574080 G>A_GSSQMPGNPPRLLFNDPFFVVETLC
X:86888755-86888755 C>T	0.0	3784	MELANOMA	-	-	-	-	KLHL4	NM_057162,p.A519V|ENST00000373119,p.A519V|NM_019117,p.A519V|uc004efb.2,p.A519V|ENST00000373114,p.A519V|uc004efa.2,p.A519V	protein_coding	uc004efb.2	nonsynonymous SNV	exon8	c.C1556T	p.A519V	PPMSTHRHGLGVATLEGPMYAVGGH	PPMSTHRHGLGVVTLEGPMYAVGGH	1.0	10.0	unscreened	-	3784_X:86888755-86888755 C>T_PPMSTHRHGLGVVTLEGPMYAVGGH
18:28993244-28993244 G>A	0.0	3784	MELANOMA	-	-	-	-	DSG4	uc002kwq.2,p.E937K|ENST00000308128,p.E937K|NM_177986,p.E937K|uc002kwr.2,p.E956K|NM_001134453,p.E956K|ENST00000359747,p.E956K	protein_coding	uc002kwr.2	nonsynonymous SNV	exon15	c.G2866A	p.E956K	FDPQLAPNVVVTEAVMAPVYDIQGN	FDPQLAPNVVVTKAVMAPVYDIQGN	1.0	8.0	unscreened	-	3784_18:28993244-28993244 G>A_FDPQLAPNVVVTKAVMAPVYDIQGN
12:21695442-21695442 G>A	0.0	3784	MELANOMA	-	-	-	-	GYS2	uc001rfb.3,p.P545S|ENST00000261195,p.P545S|NM_021957,p.P545S	protein_coding	uc001rfb.3	nonsynonymous SNV	exon13	c.C1633T	p.P545S	GFGCFMQEHVADPTAYGIYIVDRRF	GFGCFMQEHVADSTAYGIYIVDRRF	1.0	6.0	unscreened	-	3784_12:21695442-21695442 G>A_GFGCFMQEHVADSTAYGIYIVDRRF
3:119327669-119327669 C>T	0.0	3784	MELANOMA	-	-	-	-	PLA1A	ENST00000273371,p.R110C|NM_001206960,p.R110C|ENST00000494440,p.R94C|NM_001293225,p.R94C|NM_015900,p.R110C|ENST00000495992,p.R110C|uc003ecu.3,p.R110C|uc003ecv.3,p.R110C	retained_intron, protein_coding	uc003ecv.3	nonsynonymous SNV	exon3	c.C328T	p.R110C	PSWIDTFIRTLLRATNANVIAVDWI	PSWIDTFIRTLLCATNANVIAVDWI	8.0	1.0	unscreened	-	3784_3:119327669-119327669 C>T_PSWIDTFIRTLLCATNANVIAVDWI
X:64141850-64141850 C>T	0.0	3784	MELANOMA	-	-	-	-	ZC4H2	ENST00000545618,p.M19I	protein_coding, processed_transcript	ENST00000545618	nonsynonymous SNV	exon3	c.G57A	p.M19I	IFLYVARNKTLQMEKIKARLKAEFE	IFLYVARNKTLQIEKIKARLKAEFE	4.0	10.0	unscreened	-	3784_X:64141850-64141850 C>T_IFLYVARNKTLQIEKIKARLKAEFE
2:179577272-179577272 C>T	0.0	3784	MELANOMA	-	-	-	-	TTN	NM_001267550,p.G9126E|ENST00000591111,p.G8809E|uc002umz.1,p.G4543E|NM_001256850,p.G8809E|ENST00000589042,p.G9126E|ENST00000342992,p.G7882E|uc021vsy.2,p.G7882E|uc031rqd.1,p.G8809E|uc031rqc.1,p.G9126E|NM_133378,p.G7882E	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon93	c.G26426A	p.G8809E	FVKRLNDYSIEKGKPLILEGTFTGT	FVKRLNDYSIEKEKPLILEGTFTGT	3.0	9.0	unscreened	-	3784_2:179577272-179577272 C>T_FVKRLNDYSIEKEKPLILEGTFTGT
5:154395278-154395278 C>T	0.0	3784	MELANOMA	-	-	-	-	KIF4B	uc010jih.1,p.S620F|ENST00000435029,p.S620F|NM_001099293,p.S620F	protein_coding	uc010jih.1	nonsynonymous SNV	exon1	c.C1859T	p.S620F	QIADLKKKLNEQSKLLKLKESTERT	QIADLKKKLNEQFKLLKLKESTERT	1.0	6.0	unscreened	-	3784_5:154395278-154395278 C>T_QIADLKKKLNEQFKLLKLKESTERT
X:64141850-64141850 C>T	0.0	3784	MELANOMA	-	-	-	-	ZC4H2	NM_001178033,p.M24I|uc011mow.2,p.M24I|ENST00000374839,p.M24I|ENST00000447788,p.M24I|uc004dvu.3,p.M24I|uc004dvw.2,p.M24I|NM_018684,p.M24I	protein_coding, processed_transcript	uc011mow.2	nonsynonymous SNV	exon2	c.G72A	p.M24I	ESIKEIRNKTLQMEKIKARLKAEFE	ESIKEIRNKTLQIEKIKARLKAEFE	4.0	10.0	unscreened	-	3784_X:64141850-64141850 C>T_ESIKEIRNKTLQIEKIKARLKAEFE
10:82348468-82348468 C>T	0.0	3784	MELANOMA	-	-	-	-	SH2D4B	NM_207372,p.T193I|ENST00000339284,p.T193I|ENST00000470604,p.T192I|uc001kcl.1,p.T144I|ENST00000313455,p.T144I|uc001kck.1,p.T193I|NM_001145719,p.T144I	protein_coding, processed_transcript	uc001kcl.1	nonsynonymous SNV	exon4	c.C431T	p.T144I	LQEEQRAKELYWTLKQAQLHCQASE	LQEEQRAKELYWILKQAQLHCQASE	2.0	9.0	unscreened	-	3784_10:82348468-82348468 C>T_LQEEQRAKELYWILKQAQLHCQASE
6:63990831-63990831 C>T	0.0	3784	MELANOMA	-	-	-	-	LGSN	ENST00000370657,p.D209N|uc003peh.3,p.D209N|NM_016571,p.D209N	protein_coding, nonsense_mediated_decay	uc003peh.3	nonsynonymous SNV	exon4	c.G625A	p.D209N	ASGFSLLSAFIYDFCIFGVPEILNS	ASGFSLLSAFIYNFCIFGVPEILNS	1.0	10.0	unscreened	-	3784_6:63990831-63990831 C>T_ASGFSLLSAFIYNFCIFGVPEILNS
X:105178385-105178385 C>T	0.0	3784	MELANOMA	-	-	-	-	NRK	uc010npc.1,p.P818S|NM_198465,p.P1150S|ENST00000243300,p.P1150S|ENST00000428173,p.P1151S|uc004emd.3,p.P1150S	protein_coding	uc010npc.1	nonsynonymous SNV	exon20	c.C2452T	p.P818S	STQSDFSANHSSPSKGSGMSADANF	STQSDFSANHSSSSKGSGMSADANF	1.0	10.0	unscreened	-	3784_X:105178385-105178385 C>T_STQSDFSANHSSSSKGSGMSADANF
8:110477210-110477210 G>A	0.0	3784	MELANOMA	-	-	-	-	PKHD1L1	ENST00000378402,p.G2717R|uc003yne.3,p.G2717R|NM_177531,p.G2717R	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon49	c.G8149A	p.G2717R	KNAKIVGHLDELGMGSAFCTAKGLV	KNAKIVGHLDELRMGSAFCTAKGLV	1.0	4.0	unscreened	-	3784_8:110477210-110477210 G>A_KNAKIVGHLDELRMGSAFCTAKGLV
7:107408034-107408034 C>T	0.0	3784	MELANOMA	-	-	-	-	SLC26A3	NM_000111,p.R754Q|ENST00000422236,p.R641Q|ENST00000340010,p.R754Q|uc003ves.2,p.R641Q|uc003ver.2,p.R754Q	retained_intron, protein_coding, nonsense_mediated_decay	uc003ves.2	nonsynonymous SNV	exon19	c.G1922A	p.R641Q	DFTINTNGGLRNRVYEVPVETKF	DFTINTNGGLRNQVYEVPVETKF	1.0	1.0	unscreened	-	3784_7:107408034-107408034 C>T_DFTINTNGGLRNQVYEVPVETKF
18:9887659-9887659 G>A	0.0	3784	MELANOMA	-	-	-	-	TXNDC2	NM_001098529,p.E395K|uc002koh.4,p.E328K|uc002koi.4,p.E395K|uc021ugx.1,p.E328K|ENST00000306084,p.E395K|ENST00000357775,p.E328K|NM_032243,p.E328K	protein_coding, processed_transcript	uc021ugx.1	nonsynonymous SNV	exon1	c.G982A	p.E328K	QPKEGDIPKSLEEAIPPKEIDIPKS	QPKEGDIPKSLEKAIPPKEIDIPKS	2.0	10.0	unscreened	-	3784_18:9887659-9887659 G>A_QPKEGDIPKSLEKAIPPKEIDIPKS
8:24349525-24349525 G>A	0.0	3784	MELANOMA	-	-	ID=COSM1699856;OCCURENCE=1(skin)	-	ADAM7	ENST00000380789,p.G489E|uc003xeb.3,p.G489E|NM_003817,p.G489E|uc003xec.3,p.G261E|ENST00000175238,p.G489E|ENST00000520720,p.G261E	protein_coding	uc003xec.3	nonsynonymous SNV	exon8	c.G782A	p.G261E	SPACPKDQFRVNGFPCKNSEGYCFM	SPACPKDQFRVNEFPCKNSEGYCFM	1.0	10.0	unscreened	-	3784_8:24349525-24349525 G>A_SPACPKDQFRVNEFPCKNSEGYCFM
6:52996860-52996860 C>T	0.0	3784	MELANOMA	-	-	-	-	GCM1	uc003pbp.3,p.G129E|uc010jzr.2,p.G129E|NM_003643,p.G129E|ENST00000259803,p.G129E	protein_coding	uc010jzr.2	nonsynonymous SNV	exon4	c.G386A	p.G129E	DGPLKLIPCRGHGGFPVTNFWRHDG	DGPLKLIPCRGHEGFPVTNFWRHDG	1.0	1.0	unscreened	-	3784_6:52996860-52996860 C>T_DGPLKLIPCRGHEGFPVTNFWRHDG
6:54804664-54804664 G>A	0.0	3784	MELANOMA	-	-	-	-	FAM83B	ENST00000306858,p.A299T|uc003pck.4,p.A299T|NM_001010872,p.A299T	protein_coding	uc003pck.4	nonsynonymous SNV	exon5	c.G895A	p.A299T	AQEESARVKHGKALWENGTYQHSVS	AQEESARVKHGKTLWENGTYQHSVS	1.0	1.0	unscreened	-	3784_6:54804664-54804664 G>A_AQEESARVKHGKTLWENGTYQHSVS
8:104924359-104924359 G>A	0.0	3784	MELANOMA	-	-	-	-	RIMS2	ENST00000515551,p.G399R|ENST00000262231,p.G446R|uc003ylp.3,p.G591R|ENST00000504942,p.G591R|uc003ylw.2,p.G399R|ENST00000406091,p.G591R|NM_001100117,p.G591R|NM_001282881,p.G446R|uc003ylq.3,p.G399R|uc003yls.3,p.G369R|uc003ylr.3,p.G446R|NM_014677,p.G399R|ENST00000436393,p.G369R|ENST00000408894,p.G399R|ENST00000507740,p.G399R	retained_intron, protein_coding, processed_transcript	uc003ylw.2	nonsynonymous SNV	exon4	c.G1195A	p.G399R	IGRILLNKRLKDGSVPRDSGAMLGL	IGRILLNKRLKDRSVPRDSGAMLGL	4.0	7.0	unscreened	-	3784_8:104924359-104924359 G>A_IGRILLNKRLKDRSVPRDSGAMLGL
8:3224759-3224759 C>T	0.0	3784	MELANOMA	-	-	-	-	CSMD1	NM_033225,p.M970I|uc022aqr.1,p.M970I|ENST00000542608,p.M970I|ENST00000602557,p.M971I|ENST00000539096,p.M970I|ENST00000537824,p.M970I|uc011kwj.2,p.M363I|ENST00000400186,p.M971I|ENST00000520002,p.M971I|ENST00000602723,p.M971I|uc003wqe.3,p.M127I	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon20	c.G2910A	p.M970I	WTIEVSHGKGVQMIFHTFHLESSHD	WTIEVSHGKGVQIIFHTFHLESSHD	1.0	10.0	unscreened	-	3784_8:3224759-3224759 C>T_WTIEVSHGKGVQIIFHTFHLESSHD
5:43280266-43280266 G>A	0.0	3784	MELANOMA	-	-	-	-	NIM1K	ENST00000326035,p.G249D|NM_153361,p.G249D|uc031sjg.1,p.G249D|uc003jno.4,p.G249D|ENST00000512796,p.G249D	protein_coding, processed_transcript	uc031sjg.1	nonsynonymous SNV	exon4	c.G746A	p.G249D	AAPELFRDEHYIGIYVDIWALGVLL	AAPELFRDEHYIDIYVDIWALGVLL	3.0	3.0	unscreened	-	3784_5:43280266-43280266 G>A_AAPELFRDEHYIDIYVDIWALGVLL
2:29295792-29295792 G>A	0.0	3784	MELANOMA	-	-	-	-	C2orf71	ENST00000331664,p.P446S|uc002rmt.2,p.P446S|NM_001029883,p.P446S	protein_coding	uc002rmt.2	nonsynonymous SNV	exon1	c.C1336T	p.P446S	CLSSTSPENITSPPLKLGTSTPCDS	CLSSTSPENITSSPLKLGTSTPCDS	1.0	2.0	unscreened	-	3784_2:29295792-29295792 G>A_CLSSTSPENITSSPLKLGTSTPCDS
16:76501365-76501365 G>A	0.0	3784	MELANOMA	0.0005	-	-	-	CNTNAP4	ENST00000307431,p.G533R|uc002fev.1,p.G398R|NM_138994,p.G461R|uc002fex.1,p.G537R|ENST00000377504,p.G485R|uc010chb.1,p.G461R|ENST00000476707,p.G537R|uc002few.2,p.G509R|ENST00000478060,p.G461R	retained_intron, protein_coding, processed_transcript, TEC	uc010chb.1	nonsynonymous SNV	exon9	c.G1381A	p.G461R	SGKVVDLISVQQGSLGNFSDLQIDS	SGKVVDLISVQQRSLGNFSDLQIDS	2.0	1.0	unscreened	-	3784_16:76501365-76501365 G>A_SGKVVDLISVQQRSLGNFSDLQIDS
15:48760260-48760260 C>T	0.0	3784	MELANOMA	-	-	-	-	FBN1	uc001zwx.2,p.R1541Q|ENST00000316623,p.R1541Q|NM_000138,p.R1541Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zwx.2	nonsynonymous SNV	exon38	c.G4622A	p.R1541Q	TRSGNCYLDIRPRGDNGDTACSNEI	TRSGNCYLDIRPQGDNGDTACSNEI	8.0	5.0	unscreened	-	3784_15:48760260-48760260 C>T_TRSGNCYLDIRPQGDNGDTACSNEI
19:56543984-56543984 G>A	0.0	3784	MELANOMA	-	-	-	-	NLRP5	ENST00000390649,p.D762N|uc002qmi.3,p.D743N|NM_153447,p.D762N|uc002qmj.3,p.D762N	protein_coding, nonsense_mediated_decay	uc002qmj.3	nonsynonymous SNV	exon8	c.G2284A	p.D762N	AEACPVVPLWMRDKTLIEEQWEDFC	AEACPVVPLWMRNKTLIEEQWEDFC	1.0	6.0	unscreened	-	3784_19:56543984-56543984 G>A_AEACPVVPLWMRNKTLIEEQWEDFC
X:75004777-75004777 G>A	0.0	3784	MELANOMA	-	-	-	-	MAGEE2	NM_138703,p.S37F|ENST00000373359,p.S37F|uc004ecj.2,p.S37F	protein_coding	uc004ecj.2	nonsynonymous SNV	exon1	c.C110T	p.S37F	EIQATNASGSPTSMLVVDAPQCPQA	EIQATNASGSPTFMLVVDAPQCPQA	1.0	10.0	unscreened	-	3784_X:75004777-75004777 G>A_EIQATNASGSPTFMLVVDAPQCPQA
7:47944836-47944836 C>T	0.0	3784	MELANOMA	-	-	-	-	PKD1L1	uc003tny.2,p.E537K|ENST00000289672,p.E537K|NM_138295,p.E537K	retained_intron, protein_coding, processed_transcript	uc003tny.2	nonsynonymous SNV	exon11	c.G1609A	p.E537K	TFTAVTKETIPLEFEWYFGEDPPVR	TFTAVTKETIPLKFEWYFGEDPPVR	3.0	9.0	unscreened	-	3784_7:47944836-47944836 C>T_TFTAVTKETIPLKFEWYFGEDPPVR
16:68597407-68597407 C>T	0.0	3784	MELANOMA	-	-	-	-	ZFP90	uc002ewc.3,p.S45F|uc002ewb.3,p.S45F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ewc.3	nonsynonymous SNV	exon5	c.C134T	p.S45F	LNMRKHIKERELSLMEQIKEFILER	LNMRKHIKERELFLMEQIKEFILER	6.0	7.0	unscreened	-	3784_16:68597407-68597407 C>T_LNMRKHIKERELFLMEQIKEFILER
12:6958840-6958840 G>A	1.0	3784	MELANOMA	-	-	-	-	CDCA3	NM_001297604,p.P145S|ENST00000540683,p.P145S|ENST00000538862,p.P145S|NM_001297603,p.P145S|uc001qre.2,p.P145S|ENST00000535406,p.P145S|ENST00000422785,p.P145S|ENST00000229265,p.P120S|uc001qrg.2,p.P145S|NM_031299,p.P145S|NM_001297602,p.P120S	retained_intron, protein_coding, processed_transcript	uc001qrg.2	nonsynonymous SNV	exon4	c.C433T	p.P145S	EEQMPPWNQTEFPSKQVFSKEEARQ	EEQMPPWNQTEFSSKQVFSKEEARQ	7.0	6.0	-	-	3784_12:6958840-6958840 G>A_EEQMPPWNQTEFSSKQVFSKEEARQ
1:34164460-34164460 G>T	0.0	3784	MELANOMA	-	-	-	-	CSMD2	uc001bxm.1,p.S1273Y|NM_052896,p.S1233Y|NM_001281956,p.S1273Y|ENST00000373381,p.S1273Y|uc001bxo.1,p.S146Y|ENST00000373380,p.S146Y|ENST00000241312,p.S1233Y|uc001bxn.1,p.S1233Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxo.1	nonsynonymous SNV	exon3	c.C437A	p.S146Y	YKVHDEGHFAGSSVSFSCDPGYSLR	YKVHDEGHFAGSYVSFSCDPGYSLR	3.0	3.0	unscreened	-	3784_1:34164460-34164460 G>T_YKVHDEGHFAGSYVSFSCDPGYSLR
19:6820782-6820782 G>A	0.0	3784	MELANOMA	-	-	ID=COSM1003061;OCCURENCE=1(endometrium)	2	VAV1	ENST00000602142,p.E92K|uc010dva.2,p.E92K|ENST00000539284,p.E27K|NM_001258207,p.E92K|ENST00000596764,p.E92K|uc010xjh.2,p.E92K|ENST00000599806,p.E37K|NM_005428,p.E92K|uc002mfu.2,p.E92K|uc002mfv.2,p.E37K|NM_001258206,p.E92K|ENST00000304076,p.E92K	retained_intron, protein_coding	uc010xjh.2	nonsynonymous SNV	exon2	c.G274A	p.E92K	STCCEKFGLKRSELFEAFDLFDVQD	STCCEKFGLKRSKLFEAFDLFDVQD	6.0	7.0	unscreened	-	3784_19:6820782-6820782 G>A_STCCEKFGLKRSKLFEAFDLFDVQD
7:139796457-139796457 C>T	1.0	3784	MELANOMA	-	-	-	-	KDM7A	uc003vvm.3,p.D758N|NM_030647,p.D758N|ENST00000006967,p.D758N|ENST00000397560,p.D758N	retained_intron, protein_coding, nonsense_mediated_decay	uc003vvm.3	nonsynonymous SNV	exon17	c.G2272A	p.D758N	YSTCLQRQIQSTDCSGERNSLQDPS	YSTCLQRQIQSTNCSGERNSLQDPS	8.0	2.0	-	-	3784_7:139796457-139796457 C>T_YSTCLQRQIQSTNCSGERNSLQDPS
6:117116893-117116893 G>A	0.0	3784	MELANOMA	-	-	ID=COSM1697792;OCCURENCE=1(skin)	-	GPRC6A	ENST00000310357,p.H552Y|uc003pxk.1,p.H377Y|ENST00000530250,p.H377Y|uc003pxl.1,p.H481Y|uc003pxj.1,p.H552Y|NM_001286354,p.H377Y|NM_001286355,p.H481Y|ENST00000368549,p.H481Y|NM_148963,p.H552Y	protein_coding	uc003pxl.1	nonsynonymous SNV	exon4	c.C1441T	p.H481Y	ICCYECQNCPENHYTNQTDMPHCLL	ICCYECQNCPENYYTNQTDMPHCLL	1.0	10.0	unscreened	-	3784_6:117116893-117116893 G>A_ICCYECQNCPENYYTNQTDMPHCLL
1:52826764-52826764 T>G	0.0	3784	MELANOMA	-	-	-	-	CC2D1B	NM_032449,p.E120A|ENST00000371586,p.E120A|uc001ctq.2,p.E120A|ENST00000284376,p.E120A	protein_coding, processed_transcript	uc001ctq.2	nonsynonymous SNV	exon5	c.A359C	p.E120A	ELQEVLGVDEETEPLDGDEVADPGG	ELQEVLGVDEETAPLDGDEVADPGG	9.0	1.0	unscreened	-	3784_1:52826764-52826764 T>G_ELQEVLGVDEETAPLDGDEVADPGG
18:14530524-14530524 C>T	0.0	3784	MELANOMA	-	-	-	-	POTEC	uc010dln.3,p.E362K|ENST00000358970,p.E362K|ENST00000511306,p.E362K|NM_001137671,p.E362K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dln.3	nonsynonymous SNV	exon6	c.G1084A	p.E362K	HHVICELLSDYKEKQMLKISSENSN	HHVICELLSDYKKKQMLKISSENSN	1.0	10.0	unscreened	-	3784_18:14530524-14530524 C>T_HHVICELLSDYKKKQMLKISSENSN
21:27840887-27840887 G>A	0.0	3784	MELANOMA	-	-	-	-	CYYR1	ENST00000299340,p.S133F|uc002yme.3,p.S134F|NM_052954,p.S133F|uc002ymd.3,p.S133F	protein_coding	uc002yme.3	nonsynonymous SNV	exon4	c.C401T	p.S134F	EMEYCADLPPPYSPTPQGPAQRSPP	EMEYCADLPPPYFPTPQGPAQRSPP	5.0	5.0	unscreened	-	3784_21:27840887-27840887 G>A_EMEYCADLPPPYFPTPQGPAQRSPP
7:116955178-116955178 C>T	0.0	3784	MELANOMA	-	-	-	-	WNT2	uc003viz.3,p.G179R|NM_003391,p.G179R|ENST00000265441,p.G179R|uc003vja.3,p.G83R	retained_intron, protein_coding, nonsense_mediated_decay	uc003vja.3	nonsynonymous SNV	exon3	c.G247A	p.G83R	FARAFVDAKERKGKDARALMNLHNN	FARAFVDAKERKRKDARALMNLHNN	2.0	9.0	unscreened	-	3784_7:116955178-116955178 C>T_FARAFVDAKERKRKDARALMNLHNN
20:30486294-30486294 C>T	0.0	3784	MELANOMA	-	-	-	-	TTLL9	uc002wxc.2,p.P54S	protein_coding	uc002wxc.2	nonsynonymous SNV	exon4	c.C160T	p.P54S	VKGKRARAESIDPVQDHPHEHTHGR	VKGKRARAESIDSVQDHPHEHTHGR	2.0	3.0	unscreened	-	3784_20:30486294-30486294 C>T_VKGKRARAESIDSVQDHPHEHTHGR
8:24333986-24333986 G>A	0.0	3784	MELANOMA	-	-	ID=COSM297347;OCCURENCE=2(endometrium),1(large_intestine)	-	ADAM7	ENST00000175238,p.R225Q|NM_003817,p.R225Q|uc003xeb.3,p.R225Q|ENST00000380789,p.R225Q	protein_coding	uc003xeb.3	nonsynonymous SNV	exon8	c.G674A	p.R225Q	RRNGHPHNKLRNRIWGMVNFVNMIY	RRNGHPHNKLRNQIWGMVNFVNMIY	1.0	10.0	unscreened	-	3784_8:24333986-24333986 G>A_RRNGHPHNKLRNQIWGMVNFVNMIY
2:179456990-179456990 G>A	0.0	3784	MELANOMA	-	-	ID=COSM3695059,COSM3695063,COSM3695062,COSM3695060,COSM3695061;OCCURENCE=1(large_intestine)	-	TTN	NM_001267550,p.P19881S|ENST00000460472,p.P10816S|NM_133432,p.P10941S|NM_003319,p.P10816S|uc021vsy.2,p.P17313S|uc021vsz.2,p.P11008S|ENST00000342175,p.P11008S|ENST00000589042,p.P19881S|ENST00000342992,p.P17313S|uc021vta.2,p.P10941S|uc021vtb.2,p.P10816S|ENST00000359218,p.P10941S|uc031rqc.1,p.P19881S|uc031rqd.1,p.P18240S|NM_001256850,p.P18240S|NM_133378,p.P17313S|NM_133437,p.P11008S|ENST00000591111,p.P18240S	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon252	c.C54718T	p.P18240S	SVKVLVLDKPGPPRDLEVSEIRKDS	SVKVLVLDKPGPSRDLEVSEIRKDS	3.0	9.0	unscreened	-	3784_2:179456990-179456990 G>A_SVKVLVLDKPGPSRDLEVSEIRKDS
19:9017514-9017514 C>T	0.0	3784	MELANOMA	-	-	ID=COSM1722279;OCCURENCE=2(NS)	2	MUC16	NM_024690,p.E12604K|ENST00000397910,p.E12604K|uc002mkp.3,p.E12604K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon26	c.G37810A	p.E12604K	LYSGCRLTLLRSEKDGAATGVDAIC	LYSGCRLTLLRSKKDGAATGVDAIC	1.0	1.0	unscreened	-	3784_19:9017514-9017514 C>T_LYSGCRLTLLRSKKDGAATGVDAIC
11:102592434-102592434 G>A	0.0	3784	MELANOMA	-	-	-	-	MMP8	uc001phe.2,p.A136V|uc010rut.1,p.A71V|NM_002424,p.A136V|ENST00000236826,p.A136V|uc010ruu.1,p.A113V	protein_coding, nonsense_mediated_decay	uc010ruu.1	nonsynonymous SNV	exon4	c.C338T	p.A113V	LSEAEVERAIKDAFELWSVASPLIF	LSEAEVERAIKDVFELWSVASPLIF	1.0	10.0	unscreened	-	3784_11:102592434-102592434 G>A_LSEAEVERAIKDVFELWSVASPLIF
19:52131155-52131155 C>T	0.0	3784	MELANOMA	-	-	-	-	SIGLEC5	ENST00000599649,p.G310E|NM_003830,p.G310E|uc002pxe.4,p.G310E|ENST00000534261,p.G310E|ENST00000570106,p.G310E|ENST00000222107,p.G310E|ENST00000429354,p.G310E	protein_coding	uc002pxe.4	nonsynonymous SNV	exon5	c.G929A	p.G310E	ILELRRVRSAEEGGFTCRAQHPLGF	ILELRRVRSAEEEGFTCRAQHPLGF	4.0	7.0	unscreened	-	3784_19:52131155-52131155 C>T_ILELRRVRSAEEEGFTCRAQHPLGF
X:23953316-23953316 C>T	0.0	3784	MELANOMA	-	-	-	-	CXorf58	ENST00000379211,p.R187C|uc011mju.1,p.R187C|uc004daz.1,p.R187C|NM_152761,p.R187C|NM_001169574,p.R187C	protein_coding	uc011mju.1	nonsynonymous SNV	exon7	c.C559T	p.R187C	MDVVTMQDYVQYRSFFDEAPAFSGG	MDVVTMQDYVQYCSFFDEAPAFSGG	1.0	10.0	unscreened	-	3784_X:23953316-23953316 C>T_MDVVTMQDYVQYCSFFDEAPAFSGG
8:59410981-59410981 C>T	0.0	3784	MELANOMA	-	-	-	-	CYP7A1	NM_000780,p.G43D|ENST00000301645,p.G43D|uc003xtm.4,p.G43D	protein_coding	uc003xtm.4	nonsynonymous SNV	exon2	c.G128A	p.G43D	EPPLENGLIPYLGCALQFGANPLEF	EPPLENGLIPYLDCALQFGANPLEF	1.0	5.0	unscreened	-	3784_8:59410981-59410981 C>T_EPPLENGLIPYLDCALQFGANPLEF
5:156533740-156533740 C>T	0.0	3784	MELANOMA	-	-	-	-	HAVCR2	uc003lwk.2,p.E98K|ENST00000307851,p.E98K|uc003lwl.3,p.E98K|ENST00000522593,p.E98K|NM_032782,p.E98K	retained_intron, protein_coding, processed_transcript	uc003lwl.3	nonsynonymous SNV	exon2	c.G292A	p.E98K	GDFRKGDVSLTIENVTLADSGIYCC	GDFRKGDVSLTIKNVTLADSGIYCC	8.0	8.0	unscreened	-	3784_5:156533740-156533740 C>T_GDFRKGDVSLTIKNVTLADSGIYCC
3:113955834-113955834 G>A	0.0	3784	MELANOMA	-	-	-	-	ZNF80	ENST00000308095,p.H30Y|uc010hqo.3,p.H30Y|NM_007136,p.H30Y|ENST00000482457,p.H30Y	protein_coding, nonsense_mediated_decay	uc010hqo.3	nonsynonymous SNV	exon1	c.C88T	p.H30Y	VLQEQVSTGDNLHECDSQGPSKDTL	VLQEQVSTGDNLYECDSQGPSKDTL	3.0	4.0	unscreened	-	3784_3:113955834-113955834 G>A_VLQEQVSTGDNLYECDSQGPSKDTL
5:54327310-54327310 C>T	0.0	3784	MELANOMA	-	-	-	-	GZMK	uc003jpl.1,p.S161L|ENST00000231009,p.S161L|NM_002104,p.S161L	retained_intron, protein_coding	uc003jpl.1	nonsynonymous SNV	exon4	c.C482T	p.S161L	CKVTGWGATDPDSLRPSDTLREVTV	CKVTGWGATDPDLLRPSDTLREVTV	7.0	5.0	unscreened	-	3784_5:54327310-54327310 C>T_CKVTGWGATDPDLLRPSDTLREVTV
7:44266145-44266145 G>A	0.0	3784	MELANOMA	-	-	-	-	CAMK2B	NM_001220,p.P523S|uc003tkq.2,p.P523S|ENST00000395749,p.P523S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003tkq.2	nonsynonymous SNV	exon20	c.C1567T	p.P523S	GPSPVGPPPCPSPTIPGPLPTPSRK	GPSPVGPPPCPSSTIPGPLPTPSRK	4.0	9.0	unscreened	-	3784_7:44266145-44266145 G>A_GPSPVGPPPCPSSTIPGPLPTPSRK
6:94120729-94120729 C>T	0.0	3784	MELANOMA	-	-	ID=COSM70629;OCCURENCE=1(ovary)	2	EPHA7	NM_001288629,p.D108N|ENST00000369297,p.D108N|NM_001288630,p.D108N|uc003pog.4,p.D108N|uc003pof.3,p.D108N|uc003poe.3,p.D108N|uc011eac.2,p.D108N|ENST00000369303,p.D108N|NM_004440,p.D108N	protein_coding	uc011eac.2	nonsynonymous SNV	exon3	c.G322A	p.D108N	QRIFVELKFTLRDCNSLPGVLGTCK	QRIFVELKFTLRNCNSLPGVLGTCK	1.0	10.0	unscreened	-	3784_6:94120729-94120729 C>T_QRIFVELKFTLRNCNSLPGVLGTCK
10:96740954-96740954 G>A	0.0	3784	MELANOMA	-	-	-	-	CYP2C9	NM_000771,p.E326K|uc009xut.3,p.E324K|ENST00000260682,p.E326K|uc001kka.4,p.E326K	protein_coding, processed_transcript	uc009xut.3	nonsynonymous SNV	exon7	c.G970A	p.E324K	LKHPEVTAKVQEEIERVIGRNRSPC	LKHPEVTAKVQEKIERVIGRNRSPC	1.0	10.0	unscreened	-	3784_10:96740954-96740954 G>A_LKHPEVTAKVQEKIERVIGRNRSPC
7:102574460-102574460 C>T	0.0	3784	MELANOMA	-	-	ID=COSM217394;OCCURENCE=2(liver)	-	LRRC17	ENST00000249377,p.R34W|NM_001031692,p.R34W|ENST00000455453,p.R34W|ENST00000339431,p.R34W|NM_005824,p.R34W|uc003vau.3,p.R34W|uc003vat.3,p.R34W	protein_coding, processed_transcript	uc003vau.3	nonsynonymous SNV	exon2	c.C100T	p.R34W	SPGSVRSRVNHGRAGGGRRGSNPVK	SPGSVRSRVNHGWAGGGRRGSNPVK	5.0	2.0	unscreened	-	3784_7:102574460-102574460 C>T_SPGSVRSRVNHGWAGGGRRGSNPVK
2:95945619-95945619 C>T	0.0	3784	MELANOMA	-	-	-	-	PROM2	NM_001165977,p.S434F|uc002sui.3,p.S434F|uc002suj.3,p.S88F|uc002suh.2,p.S434F|NM_144707,p.S434F|NM_001165978,p.S434F|ENST00000317620,p.S434F|uc002suk.3,p.S434F|ENST00000403131,p.S434F|ENST00000542147,p.S434F|ENST00000317668,p.S434F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002suk.3	nonsynonymous SNV	exon11	c.C1301T	p.S434F	ETYRWIVGCVLCSVVLFVVLCNLLG	ETYRWIVGCVLCFVVLFVVLCNLLG	1.0	8.0	unscreened	-	3784_2:95945619-95945619 C>T_ETYRWIVGCVLCFVVLFVVLCNLLG
X:35993949-35993949 C>T	0.0	3784	MELANOMA	-	-	-	-	CXorf22	uc004ddj.3,p.R878C|ENST00000297866,p.R878C|NM_152632,p.R878C	protein_coding, nonsense_mediated_decay	uc004ddj.3	nonsynonymous SNV	exon15	c.C2632T	p.R878C	KTCFRGTVRLYNRQNCCAQFQWQPV	KTCFRGTVRLYNCQNCCAQFQWQPV	1.0	10.0	unscreened	-	3784_X:35993949-35993949 C>T_KTCFRGTVRLYNCQNCCAQFQWQPV
1:166973437-166973437 C>T	0.0	3784	MELANOMA	-	-	-	-	MAEL	uc001gdy.1,p.P182S|ENST00000447624,p.P151S|NM_001286377,p.P151S|uc001gdz.1,p.P151S|uc021peh.1,p.P126S|ENST00000367870,p.P151S|NM_032858,p.P182S|NM_001286378,p.P126S|ENST00000367872,p.P182S	protein_coding, processed_transcript	uc021peh.1	nonsynonymous SNV	exon7	c.C376T	p.P126S	HCQAASDSSHKIPISNFERGHNQAT	HCQAASDSSHKISISNFERGHNQAT	1.0	10.0	unscreened	-	3784_1:166973437-166973437 C>T_HCQAASDSSHKISISNFERGHNQAT
10:5144345-5144345 C>T	0.0	3784	MELANOMA	0.0014	-	-	-	AKR1C3	uc001ihu.3,p.S208L|NM_003739,p.S208L|ENST00000439082,p.S89L|uc001ihr.3,p.S208L|NM_001253908,p.S208L|uc010qap.2,p.S185L|ENST00000605149,p.S185L|uc021pml.1,p.S208L|ENST00000380554,p.S208L	protein_coding, processed_transcript	uc021pml.1	nonsynonymous SNV	exon6	c.C623T	p.S208L	YFNRSKLLDFCKSKDIVLVAYSALG	YFNRSKLLDFCKLKDIVLVAYSALG	3.0	6.0	unscreened	-	3784_10:5144345-5144345 C>T_YFNRSKLLDFCKLKDIVLVAYSALG
6:31599742-31599742 C>T	1.0	3784	MELANOMA	-	-	-	-	PRRC2A	NM_004638,p.P1098S|ENST00000376033,p.P1098S|NM_080686,p.P1098S|uc003nvb.4,p.P1098S|ENST00000376007,p.P1098S|uc003nvc.4,p.P1098S	retained_intron, protein_coding, processed_transcript	uc003nvc.4	nonsynonymous SNV	exon16	c.C3292T	p.P1098S	ETRSEGSEYEEIPKRRRQRGSETGS	ETRSEGSEYEEISKRRRQRGSETGS	10.0	1.0	-	-	3784_6:31599742-31599742 C>T_ETRSEGSEYEEISKRRRQRGSETGS
9:108382246-108382246 G>A	1.0	3784	MELANOMA	-	-	-	-	FKTN	ENST00000357998,p.G359E|uc010mtm.3,p.G227E|NM_001198963,p.G359E|ENST00000448551,p.G359E|NM_006731,p.G359E|uc004bcr.3,p.G359E|ENST00000223528,p.G359E|uc004bcs.3,p.G359E|ENST00000602661,p.G359E|NM_001079802,p.G359E|uc011lvx.2,p.G359E	protein_coding, processed_transcript	uc011lvx.2	nonsynonymous SNV	exon10	c.G1076A	p.G359E	GKVEDSLELSFQGKDDVKLDVFFFY	GKVEDSLELSFQEKDDVKLDVFFFY	7.0	7.0	-	-	3784_9:108382246-108382246 G>A_GKVEDSLELSFQEKDDVKLDVFFFY
20:45131596-45131596 G>A	0.0	3784	MELANOMA	-	-	-	-	ZNF334	NM_018102,p.P128S|NM_001270497,p.P127S|ENST00000593880,p.P151S|ENST00000457685,p.P90S|ENST00000347606,p.P128S|ENST00000596323,p.P90S|uc010ghl.4,p.P127S|uc002xsc.4,p.P128S|uc002xsb.4,p.P90S|uc031rtw.1,p.P90S|uc002xsd.4,p.P90S|uc002xsa.4,p.P151S	protein_coding	uc031rtw.1	nonsynonymous SNV	exon5	c.C268T	p.P90S	FGKTLNLGMNSVPSRKMPYKCNPGG	FGKTLNLGMNSVSSRKMPYKCNPGG	4.0	4.0	unscreened	-	3784_20:45131596-45131596 G>A_FGKTLNLGMNSVSSRKMPYKCNPGG
19:8994479-8994479 C>T	0.0	3784	MELANOMA	-	-	-	2	MUC16	NM_024690,p.E13805K|ENST00000397910,p.E13805K|ENST00000380951,p.E446K|uc002mkp.3,p.E13805K|uc010dwj.3,p.E622K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dwj.3	nonsynonymous SNV	exon21	c.G1864A	p.E622K	FTLNFTITNLRYEENMWPGSRKFNT	FTLNFTITNLRYKENMWPGSRKFNT	1.0	7.0	unscreened	-	3784_19:8994479-8994479 C>T_FTLNFTITNLRYKENMWPGSRKFNT
6:32041613-32041613 C>T	0.0	3784	MELANOMA	-	-	-	-	TNXB	ENST00000375247,p.E1498K|uc003nzl.2,p.E1498K|NM_019105,p.E1498K|ENST00000375244,p.E1498K	retained_intron, protein_coding	uc003nzl.2	nonsynonymous SNV	exon12	c.G4492A	p.E1498K	TPNSVGLSWTVPEGQFDSFIVQYKD	TPNSVGLSWTVPKGQFDSFIVQYKD	3.0	3.0	unscreened	-	3784_6:32041613-32041613 C>T_TPNSVGLSWTVPKGQFDSFIVQYKD
11:5363974-5363974 G>A	0.0	3784	MELANOMA	-	-	-	-	OR51B5	uc001map.1,p.R261C|NM_001005567,p.R261C|uc001maq.2,p.R261C|ENST00000300773,p.R261C	protein_coding	uc001maq.2	nonsynonymous SNV	exon5	c.C781T	p.R261C	FYVTVIGLSLIHRFGKQVPHIVHLI	FYVTVIGLSLIHCFGKQVPHIVHLI	1.0	8.0	unscreened	-	3784_11:5363974-5363974 G>A_FYVTVIGLSLIHCFGKQVPHIVHLI
8:7215935-7215935 G>A	0.0	3784	MELANOMA	-	-	-	-	ZNF705G	ENST00000400156,p.L156F|uc022are.1,p.L156F|NM_001164457,p.L156F|ENST00000400078,p.L156F	protein_coding	uc022are.1	nonsynonymous SNV	exon5	c.C466T	p.L156F	YVSKQCGKSLRNLLSTEPHKQIHTK	YVSKQCGKSLRNFLSTEPHKQIHTK	1.0	10.0	unscreened	-	3784_8:7215935-7215935 G>A_YVSKQCGKSLRNFLSTEPHKQIHTK
2:179636172-179636172 C>T	0.0	3784	MELANOMA	-	-	-	-	TTN	uc031rqd.1,p.D2628N|NM_001267550,p.D2628N|ENST00000359218,p.D2582N|NM_133379,p.D2628N|uc021vta.2,p.D2582N|ENST00000589042,p.D2628N|ENST00000360870,p.D2628N|ENST00000460472,p.D2582N|NM_133432,p.D2582N|uc021vsz.2,p.D2582N|NM_133378,p.D2628N|uc031rqc.1,p.D2628N|uc021vtb.2,p.D2582N|NM_133437,p.D2582N|ENST00000342175,p.D2582N|uc002unb.3,p.D2628N|uc021vsy.2,p.D2628N|ENST00000342992,p.D2628N|NM_003319,p.D2582N|NM_001256850,p.D2628N|ENST00000591111,p.D2628N	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon34	c.G7882A	p.D2628N	TVAGGAISKPLTDQTVAESQEAVFE	TVAGGAISKPLTNQTVAESQEAVFE	3.0	9.0	unscreened	-	3784_2:179636172-179636172 C>T_TVAGGAISKPLTNQTVAESQEAVFE
8:139255232-139255232 C>T	0.0	3784	MELANOMA	-	-	-	2	FAM135B	ENST00000276737,p.E208K|uc003yuy.3,p.E208K|NM_015912,p.E208K|uc003yux.3,p.E109K|ENST00000395297,p.E208K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yuy.3	nonsynonymous SNV	exon7	c.G622A	p.E208K	PDTGQEQSIISLENLVFGAGYCKPT	PDTGQEQSIISLKNLVFGAGYCKPT	1.0	9.0	unscreened	-	3784_8:139255232-139255232 C>T_PDTGQEQSIISLKNLVFGAGYCKPT
5:114462406-114462406 G>A	0.0	3784	MELANOMA	-	-	-	-	TRIM36	uc003kqt.3,p.P506S|uc003kqs.3,p.P661S|NM_001300759,p.P649S|ENST00000282369,p.P661S|ENST00000513154,p.P649S|uc011cwc.2,p.P649S|ENST00000514154,p.P506S|NM_001300752,p.P506S|NM_018700,p.P661S	protein_coding, processed_transcript	uc011cwc.2	nonsynonymous SNV	exon10	c.C1945T	p.P649S	PTSSNEPENRVLPMPTSIGIFLDCD	PTSSNEPENRVLSMPTSIGIFLDCD	4.0	5.0	unscreened	-	3784_5:114462406-114462406 G>A_PTSSNEPENRVLSMPTSIGIFLDCD
2:79312668-79312668 G>A	0.0	3784	MELANOMA	-	-	-	-	REG1B	uc002sny.2,p.S128F|ENST00000454188,p.S79F|ENST00000305089,p.S128F|NM_006507,p.S128F	retained_intron, protein_coding	uc002sny.2	nonsynonymous SNV	exon5	c.C383T	p.S128F	GSLVSYKSWDTGSPSSANAGYCASL	GSLVSYKSWDTGFPSSANAGYCASL	1.0	2.0	unscreened	-	3784_2:79312668-79312668 G>A_GSLVSYKSWDTGFPSSANAGYCASL
12:9010114-9010114 G>A	0.0	3784	MELANOMA	-	-	-	-	A2ML1	uc001quz.5,p.E1013K|ENST00000541459,p.E563K|NM_001282424,p.E522K|ENST00000539547,p.E522K|uc010sgm.3,p.E513K|ENST00000299698,p.E1013K|uc001qva.1,p.E593K|NM_144670,p.E1013K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sgm.3	nonsynonymous SNV	exon14	c.G1537A	p.E513K	RAVGFLEIGYQKELMYKHSNGSYSA	RAVGFLEIGYQKKLMYKHSNGSYSA	1.0	9.0	unscreened	-	3784_12:9010114-9010114 G>A_RAVGFLEIGYQKKLMYKHSNGSYSA
15:92981674-92981674 G>A	0.0	3784	MELANOMA	-	-	ID=COSM198209;OCCURENCE=1(large_intestine)	-	ST8SIA2	ENST00000268164,p.D128N|NM_006011,p.D128N|uc002brb.3,p.D107N|ENST00000555434,p.D85N|uc002bra.3,p.D128N|ENST00000539113,p.D107N	retained_intron, protein_coding, processed_transcript	uc002brb.3	nonsynonymous SNV	exon3	c.G319A	p.D107N	TLKPGDIIHYIFDRDSTMNVSQNLY	TLKPGDIIHYIFNRDSTMNVSQNLY	1.0	6.0	unscreened	-	3784_15:92981674-92981674 G>A_TLKPGDIIHYIFNRDSTMNVSQNLY
3:69988294-69988294 C>T	1.0	3784	MELANOMA	-	-	-	1	MITF	ENST00000433517,p.P102S|uc003doa.3,p.P209S|ENST00000314589,p.P194S|NM_198177,p.P194S|ENST00000394355,p.P185S|ENST00000531774,p.P47S|uc003dnz.3,p.P210S|ENST00000451708,p.P194S|ENST00000314557,p.P103S|uc003doe.3,p.P103S|ENST00000352241,p.P210S|NM_000248,p.P103S|ENST00000472437,p.P158S|uc011bgb.2,p.P158S|NM_001184967,p.P158S|NM_006722,p.P209S|NM_198159,p.P210S|ENST00000328528,p.P209S|uc003dob.3,p.P194S|uc021xam.1,p.P47S|NM_198178,p.P47S|ENST00000448226,p.P210S|NM_198158,p.P103S|uc003dof.3,p.P103S|ENST00000394351,p.P103S	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xam.1	nonsynonymous SNV	exon3	c.C139T	p.P47S	KFEEQNRAESECPGMNTHSRASCMQ	KFEEQNRAESECSGMNTHSRASCMQ	10.0	2.0	unscreened	-	3784_3:69988294-69988294 C>T_KFEEQNRAESECSGMNTHSRASCMQ
4:164271597-164271597 G>A	0.0	3784	MELANOMA	-	-	ID=COSM1650225;OCCURENCE=1(lung)	-	NPY5R	ENST00000515560,p.G58R|uc003iqn.3,p.G58R|ENST00000338566,p.G58R|ENST00000506953,p.G58R|uc021xtw.1,p.G58R|NM_006174,p.G58R	protein_coding	uc021xtw.1	nonsynonymous SNV	exon1	c.G172A	p.G58R	GLYTFVSLLGFMGNLLILMALMKKR	GLYTFVSLLGFMRNLLILMALMKKR	1.0	3.0	unscreened	-	3784_4:164271597-164271597 G>A_GLYTFVSLLGFMRNLLILMALMKKR
16:70902644-70902644 C>T	0.0	3784	MELANOMA	-	-	-	-	HYDIN	NM_001270974,p.M3713I|ENST00000393567,p.M3713I|uc031qwy.1,p.M3713I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon66	c.G11139A	p.M3713I	LHPGCAKDIVVTMKSDVPINLKNMR	LHPGCAKDIVVTIKSDVPINLKNMR	2.0	1.0	unscreened	-	3784_16:70902644-70902644 C>T_LHPGCAKDIVVTIKSDVPINLKNMR
1:156348014-156348014 G>A	0.0	3784	MELANOMA	-	-	-	-	RHBG	ENST00000400992,p.G134E|ENST00000451864,p.G134E|uc009wrz.4,p.G134E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009wrz.4	nonsynonymous SNV	exon4	c.G401A	p.G134E	GQPLSQERGGGGGVLPLTPPPQVRD	GQPLSQERGGGGEVLPLTPPPQVRD	1.0	10.0	unscreened	-	3784_1:156348014-156348014 G>A_GQPLSQERGGGGEVLPLTPPPQVRD
2:234627728-234627728 G>A	0.0	3784	MELANOMA	-	-	-	-	UGT1A4	uc010zna.1,p.E88K|ENST00000450233,p.E88K|uc002vux.3,p.E88K|ENST00000373409,p.E88K|NM_007120,p.E88K	protein_coding, nonsense_mediated_decay	uc010zna.1	nonsynonymous SNV	exon1	c.G262A	p.E88K	TLTAYAVPWTQKEFDRVTLGYTQGF	TLTAYAVPWTQKKFDRVTLGYTQGF	1.0	8.0	unscreened	-	3784_2:234627728-234627728 G>A_TLTAYAVPWTQKKFDRVTLGYTQGF
2:179325829-179325829 G>T	0.0	3784	MELANOMA	-	-	-	-	DFNB59	ENST00000409117,p.R296L|uc002umj.4,p.R296L|NM_001042702,p.R296L|uc002umi.4,p.R296L|ENST00000375129,p.R296L	retained_intron, protein_coding, nonsense_mediated_decay	uc002umj.4	nonsynonymous SNV	exon6	c.G887T	p.R296L	MTDISLKEGTHIRVNLLNHNIPKGP	MTDISLKEGTHILVNLLNHNIPKGP	3.0	3.0	unscreened	-	3784_2:179325829-179325829 G>T_MTDISLKEGTHILVNLLNHNIPKGP
6:38854694-38854694 G>A	0.0	3784	MELANOMA	-	-	ID=COSM1176813,COSM1176814;OCCURENCE=1(endometrium),1(skin)	-	DNAH8	ENST00000327475,p.R2784Q|uc003ooe.2,p.R2579Q|ENST00000359357,p.R2579Q|ENST00000449981,p.R2796Q|uc021yzh.1,p.R2796Q|NM_001206927,p.R2796Q|ENST00000441566,p.R2543Q	protein_coding	uc021yzh.1	nonsynonymous SNV	exon57	c.G8387A	p.R2796Q	QLIAAMIHPGGGRNDIPQRLKRQFT	QLIAAMIHPGGGQNDIPQRLKRQFT	1.0	2.0	unscreened	-	3784_6:38854694-38854694 G>A_QLIAAMIHPGGGQNDIPQRLKRQFT
6:136582594-136582594 C>G	0.0	3784	MELANOMA	-	-	-	2	BCLAF1	ENST00000531224,p.V856L|uc003qgx.1,p.V856L|ENST00000530767,p.V683L|uc011ede.1,p.V854L|NM_014739,p.V856L|NM_001301038,p.V854L|ENST00000527759,p.V854L|ENST00000031135,p.V74L|NM_001077441,p.V683L|uc003qgw.1,p.V683L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ede.1	nonsynonymous SNV	exon12	c.G2560C	p.V854L	KKYFLHDDRDDGVDYWAKRGRGRGT	KKYFLHDDRDDGLDYWAKRGRGRGT	10.0	1.0	unscreened	-	3784_6:136582594-136582594 C>G_KKYFLHDDRDDGLDYWAKRGRGRGT
7:108524201-108524201 G>A	0.0	3784	MELANOMA	-	-	-	-	C7orf66	uc003vfo.3,p.R71C|ENST00000379007,p.R71C|NM_001024607,p.R71C	protein_coding	uc003vfo.3	nonsynonymous SNV	exon2	c.C211T	p.R71C	HPVMSEEFSAQYRHMMDQRYRTRIH	HPVMSEEFSAQYCHMMDQRYRTRIH	1.0	2.0	unscreened	-	3784_7:108524201-108524201 G>A_HPVMSEEFSAQYCHMMDQRYRTRIH
12:70048737-70048737 C>T	0.0	3784	MELANOMA	-	-	-	-	BEST3	NM_152439,p.E440K|NM_032735,p.E653K|uc010stm.2,p.E547K|NM_001282613,p.E547K|ENST00000330891,p.E653K|uc001svg.3,p.E653K|ENST00000553096,p.E547K|uc001svf.3,p.E440K|ENST00000488961,p.E440K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010stm.2	nonsynonymous SNV	exon8	c.G1639A	p.E547K	DMLYLMENLDTKETDIIELNKETEE	DMLYLMENLDTKKTDIIELNKETEE	1.0	7.0	unscreened	-	3784_12:70048737-70048737 C>T_DMLYLMENLDTKKTDIIELNKETEE
6:136582594-136582594 C>G	0.0	3784	MELANOMA	-	-	-	2	BCLAF1	ENST00000527536,p.V807L|ENST00000353331,p.V805L|uc003qgy.1,p.V805L|uc011edb.1,p.V135L|ENST00000392348,p.V805L|NM_001077440,p.V805L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011edb.1	nonsynonymous SNV	exon2	c.G403C	p.V135L	PRGTFHDDRDDGVDYWAKRGRGRGT	PRGTFHDDRDDGLDYWAKRGRGRGT	10.0	1.0	unscreened	-	3784_6:136582594-136582594 C>G_PRGTFHDDRDDGLDYWAKRGRGRGT
12:54795424-54795424 C>T	0.0	3784	MELANOMA	-	-	-	-	ITGA5	NM_002205,p.D778N|ENST00000293379,p.D778N|uc001sga.3,p.D778N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sga.3	nonsynonymous SNV	exon23	c.G2332A	p.D778N	QILSKNLNNSQSDVVSFRLSVEAQA	QILSKNLNNSQSNVVSFRLSVEAQA	9.0	4.0	unscreened	-	3784_12:54795424-54795424 C>T_QILSKNLNNSQSNVVSFRLSVEAQA
6:76640806-76640806 C>T	0.0	3784	MELANOMA	-	-	-	-	IMPG1	ENST00000369950,p.E703K|ENST00000369952,p.E64K|NM_001563,p.E703K|NM_001282368,p.E625K|uc003pik.1,p.E703K	protein_coding	uc003pik.1	nonsynonymous SNV	exon15	c.G2107A	p.E703K	LACGEFAQCVKNERTEEAECRCKPG	LACGEFAQCVKNKRTEEAECRCKPG	1.0	10.0	unscreened	-	3784_6:76640806-76640806 C>T_LACGEFAQCVKNKRTEEAECRCKPG
11:4112748-4112748 C>T	0.0	3784	MELANOMA	-	-	-	-	STIM1	NM_001277961,p.A699V|ENST00000533977,p.A420V|ENST00000300737,p.A593V|uc009yeg.2,p.A420V|uc021qco.1,p.A699V|uc001lyv.2,p.A593V|NM_003156,p.A593V	retained_intron, protein_coding, processed_transcript	uc021qco.1	nonsynonymous SNV	exon12	c.C2096T	p.A699V	KALLALNHGLDKAHSLMELSPSAPP	KALLALNHGLDKVHSLMELSPSAPP	6.0	6.0	unscreened	-	3784_11:4112748-4112748 C>T_KALLALNHGLDKVHSLMELSPSAPP
10:46965831-46965831 C>T	0.0	3784	MELANOMA	-	-	-	-	SYT15	ENST00000503753,p.D236N|ENST00000374323,p.D289N|NM_181519,p.D236N|uc001jeb.3,p.D114N|ENST00000512997,p.D120N|ENST00000374328,p.D26N|ENST00000374325,p.D236N|NM_031912,p.D236N|uc001jdz.2,p.D236N|ENST00000374321,p.D236N|uc001jea.3,p.D236N	protein_coding, processed_transcript	uc001jeb.3	nonsynonymous SNV	exon4	c.G340A	p.D114N	TQRVLKFSVYHVDRQRKHQLLGQVL	TQRVLKFSVYHVNRQRKHQLLGQVL	1.0	3.0	unscreened	-	3784_10:46965831-46965831 C>T_TQRVLKFSVYHVNRQRKHQLLGQVL
2:179612047-179612047 C>T	0.0	3784	MELANOMA	-	-	-	-	TTN	ENST00000360870,p.R5027K|uc002unb.3,p.R5027K|NM_133379,p.R5027K	retained_intron, protein_coding	uc002unb.3	nonsynonymous SNV	exon46	c.G15080A	p.R5027K	QSSIHSGGETVERYSTPLGEVAERY	QSSIHSGGETVEKYSTPLGEVAERY	3.0	3.0	unscreened	-	3784_2:179612047-179612047 C>T_QSSIHSGGETVEKYSTPLGEVAERY
6:33154337-33154337 G>A	0.0	3784	MELANOMA	-	-	-	-	COL11A2	NM_001163771,p.P289S|uc003oda.3,p.P289S|ENST00000395194,p.P289S	protein_coding, processed_transcript	uc003oda.3	nonsynonymous SNV	exon5	c.C865T	p.P289S	AHPREGRHPGISPP	AHPREGRHPGISSP	8.0	3.0	unscreened	-	3784_6:33154337-33154337 G>A_AHPREGRHPGISSP
19:49573655-49573655 G>A	0.0	3784	MELANOMA	-	-	-	-	KCNA7	NM_031886,p.P346S|uc002pmg.3,p.P346S|ENST00000221444,p.P346S	protein_coding	uc002pmg.3	nonsynonymous SNV	exon2	c.C1036T	p.P346S	EVDRVDSHFTSIPESFWWAVVTMTT	EVDRVDSHFTSISESFWWAVVTMTT	1.0	8.0	unscreened	-	3784_19:49573655-49573655 G>A_EVDRVDSHFTSISESFWWAVVTMTT
5:149465978-149465978 C>T	0.0	3784	MELANOMA	-	-	-	2	CSF1R	uc011dce.1,p.V5I|ENST00000504875,p.V5I|NM_001288705,p.V5I|uc011dcf.2,p.V5I|NM_005211,p.V5I|uc003lrm.3,p.V5I|uc003lrl.3,p.V5I|ENST00000543093,p.V5I|ENST00000286301,p.V5I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dcf.2	nonsynonymous SNV	exon1	c.G13A	p.V5I	MGPGVLLLLLVATAWHG	MGPGILLLLLVATAWHG	8.0	8.0	unscreened	-	3784_5:149465978-149465978 C>T_MGPGILLLLLVATAWHG
7:141734516-141734516 C>T	0.0	3784	MELANOMA	-	-	-	-	MGAM	ENST00000549489,p.R612C|NM_004668,p.R612C|ENST00000475668,p.R612C|uc003vwy.3,p.R612C	retained_intron, protein_coding, processed_transcript	uc003vwy.3	nonsynonymous SNV	exon16	c.C1834T	p.R612C	TVFPNKRSFILTRSTFAGSGKFAAH	TVFPNKRSFILTCSTFAGSGKFAAH	3.0	2.0	unscreened	-	3784_7:141734516-141734516 C>T_TVFPNKRSFILTCSTFAGSGKFAAH
9:113221391-113221391 G>A	0.0	3784	MELANOMA	-	-	-	-	SVEP1	ENST00000401783,p.P1109S|uc010mua.1,p.P1109S|ENST00000302728,p.P1109S|uc010mtz.3,p.P1109S|ENST00000374469,p.P1086S|NM_153366,p.P1109S	protein_coding, processed_transcript	uc010mua.1	nonsynonymous SNV	exon19	c.C3325T	p.P1109S	KRGAVNISACGVPCPEGKFSRSGLM	KRGAVNISACGVSCPEGKFSRSGLM	4.0	1.0	unscreened	-	3784_9:113221391-113221391 G>A_KRGAVNISACGVSCPEGKFSRSGLM
21:45994623-45994623 C>T	0.0	3784	MELANOMA	-	-	-	-	KRTAP10-4	uc002zfk.1,p.P330S|NM_198687,p.P330S|ENST00000400374,p.P330S	protein_coding	uc002zfk.1	nonsynonymous SNV	exon1	c.C988T	p.P330S	CVPVCCKPVSCVPVCSGASSSCCQQ	CVPVCCKPVSCVSVCSGASSSCCQQ	1.0	6.0	unscreened	-	3784_21:45994623-45994623 C>T_CVPVCCKPVSCVSVCSGASSSCCQQ
11:46747439-46747439 C>T	0.0	3784	MELANOMA	-	-	ID=COSM1703854;OCCURENCE=1(skin)	-	F2	ENST00000442468,p.P187L|ENST00000311907,p.P197L|NM_000506,p.P197L|uc001ndf.4,p.P197L|ENST00000530231,p.P197L	retained_intron, protein_coding	uc001ndf.4	nonsynonymous SNV	exon7	c.C590T	p.P197L	VCGQDQVTVAMTPRSEGSSVNLSPP	VCGQDQVTVAMTLRSEGSSVNLSPP	1.0	1.0	unscreened	-	3784_11:46747439-46747439 C>T_VCGQDQVTVAMTLRSEGSSVNLSPP
5:140751867-140751867 G>A	0.0	3784	MELANOMA	-	-	-	-	PCDHGB3	uc011dat.2,p.E636K|uc003ljw.2,p.E636K|NM_032097,p.E636K|NM_018924,p.E636K|ENST00000576222,p.E636K	protein_coding	uc011dat.2	nonsynonymous SNV	exon1	c.G1906A	p.E636K	GEVRTARTLGDREAARQRLLVTVRD	GEVRTARTLGDRKAARQRLLVTVRD	3.0	4.0	unscreened	-	3784_5:140751867-140751867 G>A_GEVRTARTLGDRKAARQRLLVTVRD
13:36401891-36401891 C>T	0.0	3784	MELANOMA	-	-	-	-	DCLK1	NM_004734,p.E430K|uc010teh.2,p.E123K|ENST00000379893,p.E123K|NM_001195416,p.E123K|NM_001195415,p.E123K|uc001uve.4,p.E123K|uc001uvf.3,p.E430K|ENST00000360631,p.E430K|ENST00000255448,p.E430K	protein_coding, processed_transcript	uc010teh.2	nonsynonymous SNV	exon6	c.G367A	p.E123K	LKIIKKSKCRGKEHMIQNEVSILRR	LKIIKKSKCRGKKHMIQNEVSILRR	5.0	9.0	unscreened	-	3784_13:36401891-36401891 C>T_LKIIKKSKCRGKKHMIQNEVSILRR
X:140993540-140993540 G>A	0.0	3784	MELANOMA	-	-	-	-	MAGEC1	uc004fbt.3,p.S117N|NM_005462,p.S117N|ENST00000285879,p.S117N	protein_coding	uc004fbt.3	nonsynonymous SNV	exon4	c.G350A	p.S117N	GKDSLSPLEISQSPPEGEDVQSPLQ	GKDSLSPLEISQNPPEGEDVQSPLQ	2.0	10.0	unscreened	-	3784_X:140993540-140993540 G>A_GKDSLSPLEISQNPPEGEDVQSPLQ
5:140475275-140475275 G>A	0.0	3784	MELANOMA	-	-	-	-	PCDHB2	uc003lil.3,p.G301R|ENST00000194155,p.G301R|NM_018936,p.G301R	protein_coding	uc003lil.3	nonsynonymous SNV	exon1	c.G901A	p.G301R	DIRKTFRLSAKSGELLLRQKLDFES	DIRKTFRLSAKSRELLLRQKLDFES	2.0	7.0	unscreened	-	3784_5:140475275-140475275 G>A_DIRKTFRLSAKSRELLLRQKLDFES
11:6191508-6191508 G>A	0.0	3784	MELANOMA	-	-	-	-	OR52B2	NM_001004052,p.P17S|ENST00000530810,p.P17S|uc010qzy.2,p.P17S	protein_coding	uc010qzy.2	nonsynonymous SNV	exon1	c.C49T	p.P17S	NVTIFHPAVFVLPGIPGLEAYHIWL	NVTIFHPAVFVLSGIPGLEAYHIWL	1.0	3.0	unscreened	-	3784_11:6191508-6191508 G>A_NVTIFHPAVFVLSGIPGLEAYHIWL
16:74447483-74447483 G>A	0.0	3784	MELANOMA	-	-	-	-	CLEC18B	ENST00000339953,p.S183F|uc010vmu.1,p.S103F|NM_001011880,p.S183F|uc002fct.3,p.S183F|uc002fcu.3,p.S183F	retained_intron, protein_coding	uc010vmu.1	nonsynonymous SNV	exon3	c.C308T	p.S103F	GQTAIEAFVCAYSPGGNWEVNGKTI	GQTAIEAFVCAYFPGGNWEVNGKTI	2.0	1.0	unscreened	-	3784_16:74447483-74447483 G>A_GQTAIEAFVCAYFPGGNWEVNGKTI
14:103188564-103188564 C>T	1.0	3784	MELANOMA	-	-	-	-	RCOR1	ENST00000560472,p.T35M	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000560472	nonsynonymous SNV	exon2	c.C104T	p.T35M	SGNMAEIFRQSQT	SGNMAEIFRQSQM	8.0	5.0	-	-	3784_14:103188564-103188564 C>T_SGNMAEIFRQSQM
22:17072306-17072306 C>T	0.0	3784	MELANOMA	-	-	-	-	CCT8L2	ENST00000359963,p.G379R|NM_014406,p.G379R|uc002zlp.1,p.G379R	protein_coding	uc002zlp.1	nonsynonymous SNV	exon1	c.G1135A	p.G379R	CTGTPALTVVLRGATTQGLRSAEQA	CTGTPALTVVLRRATTQGLRSAEQA	1.0	8.0	unscreened	-	3784_22:17072306-17072306 C>T_CTGTPALTVVLRRATTQGLRSAEQA
14:23861779-23861779 C>T	0.0	3784	MELANOMA	-	-	-	-	MYH6	ENST00000405093,p.E1112K|NM_002471,p.E1112K|ENST00000356287,p.E1112K|uc001wjv.3,p.E1112K	retained_intron, protein_coding	uc001wjv.3	nonsynonymous SNV	exon25	c.G3334A	p.E1112K	QVLALQLQKKLKENQARIEELEEEL	QVLALQLQKKLKKNQARIEELEEEL	1.0	8.0	unscreened	-	3784_14:23861779-23861779 C>T_QVLALQLQKKLKKNQARIEELEEEL
6:31085235-31085235 C>T	0.0	3784	MELANOMA	-	-	-	-	CDSN	NM_001264,p.D53N|ENST00000376288,p.D53N|uc003nsm.2,p.D53N	protein_coding	uc003nsm.2	nonsynonymous SNV	exon2	c.G157A	p.D53N	PCKDPTRITSPNDPCLTGKGDSSGF	PCKDPTRITSPNNPCLTGKGDSSGF	1.0	1.0	unscreened	-	3784_6:31085235-31085235 C>T_PCKDPTRITSPNNPCLTGKGDSSGF
X:114541124-114541124 C>T	0.0	3784	MELANOMA	-	-	-	-	LUZP4	uc004eqb.3,p.R151C|uc004eqa.3,p.R233C|NM_016383,p.R233C|ENST00000371920,p.R233C|ENST00000451986,p.R151C	protein_coding	uc004eqb.3	nonsynonymous SNV	exon3	c.C451T	p.R151C	HSERSHGHSKRSRSQGDLVDTQSDL	HSERSHGHSKRSCSQGDLVDTQSDL	1.0	10.0	unscreened	-	3784_X:114541124-114541124 C>T_HSERSHGHSKRSCSQGDLVDTQSDL
6:117246711-117246711 G>A	0.0	3784	MELANOMA	-	-	-	-	RFX6	ENST00000332958,p.E592K|uc003pxm.3,p.E592K|NM_173560,p.E592K	retained_intron, protein_coding, processed_transcript	uc003pxm.3	nonsynonymous SNV	exon16	c.G1774A	p.E592K	KGSMVSSDAVKNESHVETTYLPLPS	KGSMVSSDAVKNKSHVETTYLPLPS	1.0	9.0	unscreened	-	3784_6:117246711-117246711 G>A_KGSMVSSDAVKNKSHVETTYLPLPS
3:164785149-164785149 C>T	0.0	3784	MELANOMA	-	-	-	-	SI	uc003fei.3,p.R205K|ENST00000264382,p.R205K|NM_001041,p.R205K	retained_intron, protein_coding, nonsense_mediated_decay	uc003fei.3	nonsynonymous SNV	exon6	c.G614A	p.R205K	KVAQNPFSIQVIRKSNGKTLFDTSI	KVAQNPFSIQVIKKSNGKTLFDTSI	1.0	4.0	unscreened	-	3784_3:164785149-164785149 C>T_KVAQNPFSIQVIKKSNGKTLFDTSI
11:5323061-5323061 C>T	0.0	3784	MELANOMA	-	-	-	-	OR51B4	uc010qza.2,p.G39E|NM_033179,p.G39E|ENST00000380224,p.G39E	protein_coding	uc010qza.2	nonsynonymous SNV	exon1	c.G116A	p.G39E	MSFFVIYFSVLFGNGTLLVLIWNDH	MSFFVIYFSVLFENGTLLVLIWNDH	1.0	8.0	unscreened	-	3784_11:5323061-5323061 C>T_MSFFVIYFSVLFENGTLLVLIWNDH
11:56380053-56380053 G>A	0.0	3784	MELANOMA	-	-	ID=COSM688497;OCCURENCE=1(lung)	-	OR5M1	NM_001004740,p.S309F|uc001nja.1,p.S309F|ENST00000526538,p.S309F	protein_coding	uc001nja.1	nonsynonymous SNV	exon1	c.C926T	p.S309F	VILAMQQMIRGKSFHKIAV	VILAMQQMIRGKFFHKIAV	1.0	6.0	unscreened	-	3784_11:56380053-56380053 G>A_VILAMQQMIRGKFFHKIAV
5:153078550-153078550 G>A	0.0	3784	MELANOMA	-	-	-	-	GRIA1	uc011dcw.2,p.E377K|NM_001258019,p.E377K|NM_001258023,p.E388K|ENST00000518783,p.E467K|ENST00000448073,p.E467K|uc011dcy.2,p.E467K|uc011dcx.2,p.E388K|NM_001114183,p.E457K|uc010jia.1,p.E437K|ENST00000521843,p.E388K|ENST00000518142,p.E377K|NM_001258021,p.E467K|uc003luz.4,p.E362K|ENST00000340592,p.E457K|NM_000827,p.E457K|NM_001258022,p.E467K|NM_001258020,p.E362K|uc003luy.4,p.E457K|uc003lva.4,p.E457K|ENST00000285900,p.E457K|uc011dcz.2,p.E467K	retained_intron, protein_coding, processed_transcript	uc011dcz.2	nonsynonymous SNV	exon10	c.G1399A	p.E467K	EIAKHVGYSYRLEIVSDGKYGARDP	EIAKHVGYSYRLKIVSDGKYGARDP	1.0	6.0	unscreened	-	3784_5:153078550-153078550 G>A_EIAKHVGYSYRLKIVSDGKYGARDP
16:9858615-9858615 G>A	0.0	3784	MELANOMA	-	-	ID=COSM107839;OCCURENCE=2(skin)	1	GRIN2A	NM_001134408,p.S929F|ENST00000396575,p.S929F|ENST00000562109,p.S929F|ENST00000535259,p.S772F|uc002czr.4,p.S929F|uc010uym.2,p.S929F|NM_001134407,p.S929F|NM_000833,p.S929F|uc002czo.4,p.S929F|ENST00000404927,p.S929F|uc010uyn.2,p.S772F|ENST00000396573,p.S929F|ENST00000330684,p.S929F	retained_intron, protein_coding, processed_transcript	uc010uyn.2	nonsynonymous SNV	exon12	c.C2315T	p.S772F	SPKRAADFIQRGSLIMDMVSDKGNL	SPKRAADFIQRGFLIMDMVSDKGNL	3.0	2.0	unscreened	-	3784_16:9858615-9858615 G>A_SPKRAADFIQRGFLIMDMVSDKGNL
11:5462614-5462614 T>C	0.0	3784	MELANOMA	-	-	-	-	OR51I1	uc010qze.2,p.N44S|NM_001005288,p.N44S|ENST00000380211,p.N44S	protein_coding	uc010qze.2	nonsynonymous SNV	exon1	c.A131G	p.N44S	IFCILYMISIVGNLSILTLVFWEPA	IFCILYMISIVGSLSILTLVFWEPA	1.0	1.0	unscreened	-	3784_11:5462614-5462614 T>C_IFCILYMISIVGSLSILTLVFWEPA
7:20744371-20744371 G>A	0.0	3784	MELANOMA	0.0005	-	-	-	ABCB5	uc010kuh.3,p.E788K|ENST00000404938,p.E788K|NM_178559,p.E343K|NM_001163941,p.E788K|ENST00000258738,p.E343K|uc003suw.4,p.E343K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010kuh.3	nonsynonymous SNV	exon20	c.G2362A	p.E788K	MLYQDIAWFDEKENSTGGLTTILAI	MLYQDIAWFDEKKNSTGGLTTILAI	8.0	9.0	unscreened	-	3784_7:20744371-20744371 G>A_MLYQDIAWFDEKKNSTGGLTTILAI
17:3119791-3119791 C>T	0.0	3784	MELANOMA	-	-	ID=COSM139033;OCCURENCE=2(large_intestine),1(skin)	-	OR1A1	ENST00000304094,p.R293W|NM_014565,p.R293W|uc010vrc.2,p.R293W	protein_coding	uc010vrc.2	nonsynonymous SNV	exon1	c.C877T	p.R293W	PMLNPFIYSLRNRDMKAALRKLFNK	PMLNPFIYSLRNWDMKAALRKLFNK	1.0	7.0	unscreened	-	3784_17:3119791-3119791 C>T_PMLNPFIYSLRNWDMKAALRKLFNK
15:28632822-28632822 G>A	0.0	3784	MELANOMA	-	-	-	-	GOLGA8F,GOLGA8G	uc031qrc.1,p.E246K|uc001zbp.3,p.E246K|ENST00000532622,p.E464K|ENST00000450328,p.E246K|uc001zbn.2,p.E250K|ENST00000526619,p.E250K	retained_intron, protein_coding	uc031qrc.1	nonsynonymous SNV	exon13	c.G736A	p.E246K	APRPIPSIPQDLESREAMSGFMDHL	APRPIPSIPQDLKSREAMSGFMDHL	1.0	2.0	unscreened	-	3784_15:28632822-28632822 G>A_APRPIPSIPQDLKSREAMSGFMDHL
2:179701907-179701907 C>T	0.0	3784	MELANOMA	-	-	ID=COSM225491,COSM225490;OCCURENCE=1(NS)	-	CCDC141	uc002unf.1,p.E826K|uc002une.2,p.E1347K|ENST00000343876,p.E791K|NM_173648,p.E1347K|ENST00000420890,p.E1347K|ENST00000295723,p.E772K	protein_coding, processed_transcript	uc002unf.1	nonsynonymous SNV	exon13	c.G2476A	p.E826K	HPQAQGGLLETREKMHADNNFTKTQ	HPQAQGGLLETRKKMHADNNFTKTQ	3.0	9.0	unscreened	-	3784_2:179701907-179701907 C>T_HPQAQGGLLETRKKMHADNNFTKTQ
4:85600165-85600165 A>T	1.0	3784	MELANOMA	-	-	-	-	WDFY3	ENST00000295888,p.S3352T|uc003hpc.3,p.S107T|ENST00000322366,p.S3335T|uc003hpd.3,p.S3352T|NM_014991,p.S3352T	retained_intron, protein_coding, processed_transcript	uc003hpd.3	nonsynonymous SNV	exon65	c.T10054A	p.S3352T	LDEKDGFIFVNYSEGQTRAHLQGPL	LDEKDGFIFVNYTEGQTRAHLQGPL	8.0	6.0	-	-	3784_4:85600165-85600165 A>T_LDEKDGFIFVNYTEGQTRAHLQGPL
19:52004702-52004702 G>A	0.0	3784	MELANOMA	-	-	-	-	SIGLEC12	ENST00000291707,p.L96F|NM_053003,p.L96F|ENST00000596742,p.L96F|uc002pwx.1,p.L96F	protein_coding, nonsense_mediated_decay	uc002pwx.1	nonsynonymous SNV	exon1	c.C286T	p.L96F	AVQEETRDRFHLLGDPQNKDCTLSI	AVQEETRDRFHLFGDPQNKDCTLSI	1.0	4.0	unscreened	-	3784_19:52004702-52004702 G>A_AVQEETRDRFHLFGDPQNKDCTLSI
22:36684816-36684816 C>T	1.0	3784	MELANOMA	-	-	ID=COSM3939638;OCCURENCE=1(oesophagus)	1	MYH9	ENST00000216181,p.R1576Q|NM_002473,p.R1576Q|uc003apg.3,p.R1576Q	retained_intron, protein_coding, processed_transcript	uc003apg.3	nonsynonymous SNV	exon33	c.G4727A	p.R1576Q	AMKAQFERDLQGRDEQSEEKKKQLV	AMKAQFERDLQGQDEQSEEKKKQLV	10.0	1.0	-	-	3784_22:36684816-36684816 C>T_AMKAQFERDLQGQDEQSEEKKKQLV
17:44060816-44060816 G>A	0.0	3784	MELANOMA	-	-	-	-	MAPT	ENST00000344290,p.E216K|NM_001123066,p.E216K|ENST00000262410,p.E216K|ENST00000415613,p.E216K|uc021tyx.1,p.E64K|ENST00000571987,p.E216K|uc010dau.3,p.E216K|uc002ijr.4,p.E216K|NM_016835,p.E216K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tyx.1	nonsynonymous SNV	exon1	c.G190A	p.E64K	KGAGGKERPGSKEEVDEDRDVDESS	KGAGGKERPGSKKEVDEDRDVDESS	4.0	9.0	unscreened	-	3784_17:44060816-44060816 G>A_KGAGGKERPGSKKEVDEDRDVDESS
19:56515435-56515435 C>T	0.0	3784	MELANOMA	-	-	-	-	NLRP5	NM_153447,p.S139L|uc002qmi.3,p.S139L|ENST00000390649,p.S139L|ENST00000597673,p.S112L|uc002qmj.3,p.S139L	protein_coding, nonsense_mediated_decay	uc002qmj.3	nonsynonymous SNV	exon2	c.C416T	p.S139L	ISIFENMNLRTLSEKARDDMKRHSP	ISIFENMNLRTLLEKARDDMKRHSP	1.0	7.0	unscreened	-	3784_19:56515435-56515435 C>T_ISIFENMNLRTLLEKARDDMKRHSP
4:164271596-164271596 G>A	0.0	3784	MELANOMA	-	-	ID=COSM230045;OCCURENCE=1(NS)	-	NPY5R	uc003iqn.3,p.M57I|NM_006174,p.M57I|ENST00000338566,p.M57I|ENST00000506953,p.M57I|ENST00000515560,p.M57I|uc021xtw.1,p.M57I	protein_coding	uc021xtw.1	nonsynonymous SNV	exon1	c.G171A	p.M57I	IGLYTFVSLLGFMGNLLILMALMKK	IGLYTFVSLLGFIGNLLILMALMKK	1.0	3.0	unscreened	-	3784_4:164271596-164271596 G>A_IGLYTFVSLLGFIGNLLILMALMKK
18:31325280-31325280 G>A	0.0	3784	MELANOMA	0.0005	-	ID=COSM259535;OCCURENCE=1(large_intestine)	-	ASXL3	NM_030632,p.R1823Q|uc002kxq.2,p.R1530Q|ENST00000269197,p.R1823Q|uc010dmg.1,p.R1823Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dmg.1	nonsynonymous SNV	exon12	c.G5468A	p.R1823Q	LAGTLAPLQMRKRENHPKKRVARTV	LAGTLAPLQMRKQENHPKKRVARTV	1.0	1.0	unscreened	-	3784_18:31325280-31325280 G>A_LAGTLAPLQMRKQENHPKKRVARTV
15:43815421-43815421 G>A	0.0	3784	MELANOMA	-	-	-	-	MAP1A	ENST00000382031,p.G822R|NM_002373,p.G584R|ENST00000300231,p.G584R|uc001zrt.3,p.G584R|ENST00000399453,p.G584R	protein_coding	uc001zrt.3	nonsynonymous SNV	exon4	c.G1750A	p.G584R	AIQGTPPSVPGLGQEEHVMKEKELV	AIQGTPPSVPGLRQEEHVMKEKELV	4.0	3.0	unscreened	-	3784_15:43815421-43815421 G>A_AIQGTPPSVPGLRQEEHVMKEKELV
12:55615224-55615224 C>T	0.0	3784	MELANOMA	-	-	-	-	OR10A7	ENST00000326258,p.S139F|uc010spf.2,p.S139F|NM_001005280,p.S139F	protein_coding	uc010spf.2	nonsynonymous SNV	exon1	c.C416T	p.S139F	CNPLHYSVIMNRSLCLWMAIGSWMS	CNPLHYSVIMNRFLCLWMAIGSWMS	1.0	4.0	unscreened	-	3784_12:55615224-55615224 C>T_CNPLHYSVIMNRFLCLWMAIGSWMS
17:10417437-10417437 C>T	0.0	3784	MELANOMA	-	-	-	-	MYH1	ENST00000226207,p.E180K|NM_005963,p.E180K|uc002gmo.3,p.E180K	protein_coding	uc002gmo.3	nonsynonymous SNV	exon7	c.G538A	p.E180K	TDRENQSILITGESGAGKTVNTKRV	TDRENQSILITGKSGAGKTVNTKRV	1.0	2.0	unscreened	-	3784_17:10417437-10417437 C>T_TDRENQSILITGKSGAGKTVNTKRV
7:117188704-117188704 G>A	0.0	3784	MELANOMA	-	-	-	-	CFTR	ENST00000003084,p.E407K|ENST00000426809,p.E377K|NM_000492,p.E407K|uc003vjd.3,p.E407K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003vjd.3	nonsynonymous SNV	exon10	c.G1219A	p.E407K	ENVTAFWEEGFGELFEKAKQNNNNR	ENVTAFWEEGFGKLFEKAKQNNNNR	1.0	2.0	unscreened	-	3784_7:117188704-117188704 G>A_ENVTAFWEEGFGKLFEKAKQNNNNR
3:185969597-185969597 C>T	0.0	3784	MELANOMA	-	-	-	-	DGKG	ENST00000344484,p.G546E|ENST00000265022,p.G571E|uc003fqb.3,p.G532E|uc003fqc.3,p.G546E|NM_001346,p.G571E|NM_001080744,p.G546E|ENST00000382164,p.G532E|uc003fqa.3,p.G571E|ENST00000544847,p.G512E|uc011brx.2,p.G512E|NM_001080745,p.G532E	retained_intron, protein_coding, processed_transcript	uc011brx.2	nonsynonymous SNV	exon17	c.G1535A	p.G512E	HLEVIPREEVENGDQVPYSIMNNYF	HLEVIPREEVENEDQVPYSIMNNYF	5.0	7.0	unscreened	-	3784_3:185969597-185969597 C>T_HLEVIPREEVENEDQVPYSIMNNYF
2:120020643-120020643 G>A	0.0	3784	MELANOMA	-	-	-	-	STEAP3	ENST00000393110,p.G409D|ENST00000393108,p.G399D|ENST00000425223,p.G399D|uc002tlp.3,p.G399D|ENST00000393107,p.G399D|ENST00000354888,p.G399D|ENST00000393106,p.G399D|NM_001008410,p.G399D|uc002tlq.3,p.G409D|NM_018234,p.G399D|uc002tlr.3,p.G399D|NM_182915,p.G409D	protein_coding	uc002tlr.3	nonsynonymous SNV	exon5	c.G1196A	p.G399D	NWREFSFVQSSLGFVALVLSTLHTL	NWREFSFVQSSLDFVALVLSTLHTL	3.0	7.0	unscreened	-	3784_2:120020643-120020643 G>A_NWREFSFVQSSLDFVALVLSTLHTL
22:27024321-27024321 G>A	0.0	3784	MELANOMA	-	-	-	-	CRYBA4	uc003acz.4,p.D124N|NM_001886,p.D124N|ENST00000354760,p.D124N	protein_coding, processed_transcript	uc003acz.4	nonsynonymous SNV	exon5	c.G370A	p.D124N	QENFLGKKGELSDDYPSLQAMGWEG	QENFLGKKGELSNDYPSLQAMGWEG	1.0	1.0	unscreened	-	3784_22:27024321-27024321 G>A_QENFLGKKGELSNDYPSLQAMGWEG
1:117122291-117122291 C>G	1.0	3784	MELANOMA	-	-	ID=COSM342302,COSM342303;OCCURENCE=1(lung)	-	IGSF3	NM_001007237,p.E1019D|uc031pnr.1,p.E1039D|ENST00000369483,p.E1039D|ENST00000318837,p.E1039D|uc001egr.2,p.E1019D|NM_001542,p.E1039D|ENST00000369486,p.E1019D	protein_coding, processed_transcript	uc031pnr.1	nonsynonymous SNV	exon10	c.G3117C	p.E1039D	EEQEEEREEEEEEDDDDDDDPTERT	EEQEEEREEEEEDDDDDDDDPTERT	9.0	1.0	unscreened	-	3784_1:117122291-117122291 C>G_EEQEEEREEEEEDDDDDDDDPTERT
8:133141960-133141960 C>T	0.0	3784	MELANOMA	0.0014	-	-	-	KCNQ3	ENST00000521134,p.G603E|ENST00000388996,p.G723E|ENST00000519445,p.G711E|NM_001204824,p.G603E|uc003ytj.3,p.G723E|uc003yti.3,p.G603E|uc010mdt.3,p.G711E|NM_004519,p.G723E	retained_intron, protein_coding	uc010mdt.3	nonsynonymous SNV	exon15	c.G2132A	p.G711E	GFFAHDPVNLPRGGPSSGKVQATPP	GFFAHDPVNLPREGPSSGKVQATPP	4.0	3.0	unscreened	-	3784_8:133141960-133141960 C>T_GFFAHDPVNLPREGPSSGKVQATPP
7:84629151-84629151 C>T	0.0	3784	MELANOMA	-	-	-	-	SEMA3D	uc003uib.3,p.E286K|uc003uic.3,p.E647K|uc010led.3,p.E647K|NM_152754,p.E647K|ENST00000284136,p.E647K	retained_intron, protein_coding, processed_transcript	uc010led.3	nonsynonymous SNV	exon18	c.G1939A	p.E647K	EELKPDERIIKTEYGLLIRSLQKKD	EELKPDERIIKTKYGLLIRSLQKKD	4.0	3.0	unscreened	-	3784_7:84629151-84629151 C>T_EELKPDERIIKTKYGLLIRSLQKKD
12:6484065-6484065 C>T	0.0	3784	MELANOMA	-	-	-	-	SCNN1A	uc001qnw.3,p.G21D|NM_001159576,p.G21D|ENST00000360168,p.G21D	protein_coding, processed_transcript, nonsense_mediated_decay	uc001qnw.3	nonsynonymous SNV	exon1	c.G62A	p.G21D	TRVPGVMGEGTQGPELSLDPDPCSP	TRVPGVMGEGTQDPELSLDPDPCSP	1.0	9.0	unscreened	-	3784_12:6484065-6484065 C>T_TRVPGVMGEGTQDPELSLDPDPCSP
7:126542622-126542622 C>T	0.0	3784	MELANOMA	-	-	-	-	GRM8	NM_000845,p.R377K|ENST00000339582,p.R377K|uc003vlr.2,p.R377K|uc003vlu.1,p.R98K|uc003vlt.2,p.R377K|ENST00000341617,p.R377K|ENST00000444921,p.R377K|ENST00000358373,p.R377K|ENST00000472701,p.R377K|ENST00000405249,p.R377K|NM_001127323,p.R377K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003vlu.1	nonsynonymous SNV	exon6	c.G293A	p.R98K	ENFGCKLGSHGKRNSHIKKCTGLER	ENFGCKLGSHGKKNSHIKKCTGLER	2.0	9.0	unscreened	-	3784_7:126542622-126542622 C>T_ENFGCKLGSHGKKNSHIKKCTGLER
11:47367776-47367776 C>T	0.0	3784	MELANOMA	-	-	-	-	MYBPC3	NM_000256,p.D358N|ENST00000545968,p.D358N|ENST00000256993,p.D358N|uc021qis.1,p.D358N|ENST00000399249,p.D358N|ENST00000544791,p.D358N	protein_coding, nonsense_mediated_decay	uc021qis.1	nonsynonymous SNV	exon12	c.G1072A	p.D358N	RGMLKRLKGMRRDEKKSTAFQKKLE	RGMLKRLKGMRRNEKKSTAFQKKLE	1.0	9.0	unscreened	-	3784_11:47367776-47367776 C>T_RGMLKRLKGMRRNEKKSTAFQKKLE
6:33630697-33630697 C>A	1.0	3784	MELANOMA	-	-	-	-	ITPR3	ENST00000605930,p.H290N|NM_002224,p.H290N|uc021ywr.1,p.H290N|ENST00000374316,p.H290N	protein_coding	uc021ywr.1	nonsynonymous SNV	exon9	c.C868A	p.H290N	SSNALWEVEVVHHDPCRGGAGHWNG	SSNALWEVEVVHNDPCRGGAGHWNG	6.0	1.0	-	-	3784_6:33630697-33630697 C>A_SSNALWEVEVVHNDPCRGGAGHWNG
18:56204595-56204595 C>T	0.0	3784	MELANOMA	-	-	ID=COSM21058;OCCURENCE=1(skin)	-	ALPK2	ENST00000361673,p.E942K|NM_052947,p.E942K|uc002lhj.4,p.E942K|uc002lhk.1,p.E273K	retained_intron, protein_coding, processed_transcript	uc002lhk.1	nonsynonymous SNV	exon1	c.G817A	p.E273K	EQPSPSNSGGLDETQLLSSENNPLV	EQPSPSNSGGLDKTQLLSSENNPLV	3.0	1.0	unscreened	-	3784_18:56204595-56204595 C>T_EQPSPSNSGGLDKTQLLSSENNPLV
9:35548265-35548265 C>T	0.0	3784	MELANOMA	-	-	-	-	RUSC2	ENST00000455600,p.R583W|ENST00000361226,p.R583W|NM_014806,p.R583W|NM_001135999,p.R583W|uc003zwx.4,p.R583W|uc003zww.3,p.R583W	protein_coding, processed_transcript	uc003zwx.4	nonsynonymous SNV	exon2	c.C1747T	p.R583W	QEFSPIQEAQQDRGAPLDEGTCCSH	QEFSPIQEAQQDWGAPLDEGTCCSH	5.0	1.0	unscreened	-	3784_9:35548265-35548265 C>T_QEFSPIQEAQQDWGAPLDEGTCCSH
10:118220519-118220519 G>A	0.0	3784	MELANOMA	-	-	-	-	PNLIPRP3	ENST00000369230,p.E203K|NM_001011709,p.E203K|uc001lcl.4,p.E203K	protein_coding, processed_transcript	uc001lcl.4	nonsynonymous SNV	exon6	c.G607A	p.E203K	DPAGPFFHNTPKEVRLDPSDANFVD	DPAGPFFHNTPKKVRLDPSDANFVD	1.0	9.0	unscreened	-	3784_10:118220519-118220519 G>A_DPAGPFFHNTPKKVRLDPSDANFVD
6:46794149-46794149 G>A	0.0	3784	MELANOMA	-	-	-	-	MEP1A	uc011dwi.1,p.M179I|ENST00000230588,p.M279I|uc010jzh.1,p.M279I|NM_005588,p.M279I|uc011dwh.1,p.M307I	protein_coding	uc011dwi.1	nonsynonymous SNV	exon7	c.G537A	p.M179I	DHCTFEKANICGMIQGTRDDTDWAH	DHCTFEKANICGIIQGTRDDTDWAH	1.0	2.0	unscreened	-	3784_6:46794149-46794149 G>A_DHCTFEKANICGIIQGTRDDTDWAH
17:4463732-4463732 C>T	0.0	3784	MELANOMA	-	-	-	-	GGT6	uc010vsc.2,p.E29K|ENST00000574154,p.E29K|NM_001288704,p.E29K|NM_001288703,p.E29K|ENST00000574584,p.E29K|uc002fyd.4,p.E29K|uc002fyc.4,p.E29K|NM_001122890,p.E29K|NM_001288702,p.E29K|ENST00000381550,p.E29K|NM_153338,p.E29K|ENST00000301395,p.E29K	retained_intron, protein_coding	uc010vsc.2	nonsynonymous SNV	exon1	c.G85A	p.E29K	EPSLESEEEVEEEETSEALVLNPRR	EPSLESEEEVEEKETSEALVLNPRR	1.0	1.0	unscreened	-	3784_17:4463732-4463732 C>T_EPSLESEEEVEEKETSEALVLNPRR
11:76912579-76912579 G>A	0.0	3784	MELANOMA	-	-	ID=COSM227576;OCCURENCE=1(skin)	-	MYO7A	ENST00000409709,p.G1647S|uc009yut.1,p.G819S|ENST00000458169,p.G789S|ENST00000458637,p.G1609S|uc001oyb.2,p.G1647S|uc010rsm.1,p.G1598S|uc001oyc.2,p.G1609S|NM_000260,p.G1647S|ENST00000409619,p.G1598S|NM_001127180,p.G1609S	retained_intron, protein_coding, processed_transcript	uc010rsm.1	nonsynonymous SNV	exon37	c.G4792A	p.G1598S	LDHDTGEQVMNSGWANGINERTKQR	LDHDTGEQVMNSSWANGINERTKQR	6.0	9.0	unscreened	-	3784_11:76912579-76912579 G>A_LDHDTGEQVMNSSWANGINERTKQR
10:37430789-37430789 G>A	0.0	3784	MELANOMA	-	-	-	-	ANKRD30A	uc001iza.1,p.E266K|NM_052997,p.E266K|ENST00000361713,p.E266K|ENST00000602533,p.E266K|ENST00000374660,p.E266K|uc021ppc.1,p.E266K	protein_coding, processed_transcript	uc021ppc.1	nonsynonymous SNV	exon7	c.G796A	p.E266K	VERTPDTAESLVEKTPDEAASLVEG	VERTPDTAESLVKKTPDEAASLVEG	1.0	3.0	unscreened	-	3784_10:37430789-37430789 G>A_VERTPDTAESLVKKTPDEAASLVEG
4:74351709-74351709 G>A	0.0	3784	MELANOMA	-	-	-	-	AFM	ENST00000226355,p.G134E|NM_001133,p.G134E|uc003hhb.3,p.G134E	retained_intron, protein_coding	uc003hhb.3	nonsynonymous SNV	exon4	c.G401A	p.G134E	RLCFFYNKKSDVGFLPPFPTLDPEE	RLCFFYNKKSDVEFLPPFPTLDPEE	1.0	6.0	unscreened	-	3784_4:74351709-74351709 G>A_RLCFFYNKKSDVEFLPPFPTLDPEE
21:10973727-10973727 C>T	0.0	3784	MELANOMA	-	-	-	-	TPTE	ENST00000342420,p.E3K|ENST00000328758,p.E3K|NM_199259,p.E3K|NM_199260,p.E3K|uc002yiq.1,p.E3K|ENST00000361285,p.E3K|NM_199261,p.E3K|uc002yir.1,p.E3K|uc002yip.1,p.E3K|ENST00000298232,p.E3K	protein_coding, processed_transcript	uc002yir.1	nonsynonymous SNV	exon4	c.G7A	p.E3K	MNESPDPTDLAGVII	MNKSPDPTDLAGVII	1.0	1.0	unscreened	-	3784_21:10973727-10973727 C>T_MNKSPDPTDLAGVII
19:57640639-57640639 C>T	0.0	3784	MELANOMA	-	-	-	-	USP29	ENST00000598197,p.S199F|ENST00000254181,p.S199F|uc021vci.1,p.S199F|NM_020903,p.S199F|uc002qny.3,p.S199F	protein_coding	uc021vci.1	nonsynonymous SNV	exon1	c.C596T	p.S199F	DNPVPNKKYKTDSLKYIQSNRKNPS	DNPVPNKKYKTDFLKYIQSNRKNPS	1.0	3.0	unscreened	-	3784_19:57640639-57640639 C>T_DNPVPNKKYKTDFLKYIQSNRKNPS
20:10036213-10036213 T>C	0.0	3784	MELANOMA	-	-	-	-	ANKEF1	NM_198798,p.F746L|ENST00000378392,p.F746L|NM_022096,p.F746L|ENST00000378380,p.F746L|uc010gbz.3,p.F557L|uc002wno.3,p.F746L|uc002wnp.3,p.F746L	protein_coding, processed_transcript	uc010gbz.3	nonsynonymous SNV	exon11	c.T1669C	p.F557L	ELIRKRELRRERFTHEVDFDDFMMP	ELIRKRELRRERLTHEVDFDDFMMP	3.0	6.0	unscreened	-	3784_20:10036213-10036213 T>C_ELIRKRELRRERLTHEVDFDDFMMP
1:145457040-145457042 TCT>-	0.0	3784	MELANOMA	-	-	ID=COSM895169;OCCURENCE=1(endometrium)	-	POLR3GL	ENST00000369313,p.150_151del|uc001enp.1,p.173_174del|NM_032305,p.173_174del|ENST00000369314,p.173_174del	retained_intron, protein_coding	uc001enp.1	nonframeshift deletion	exon7	c.519_521del	p.173_174del	VTSEEDEEKEEEEEKEEEEEEEYDE	VTSEEDEEKEEEEKEEEEEEEYDEE	7.0	1.0	unscreened	-	3784_1:145457040-145457042 TCT>-_VTSEEDEEKEEEEKEEEEEEEYDEE
6:41707551-41707551 C>T	0.0	3784	MELANOMA	-	-	-	-	PGC	uc003ora.2,p.D301N|NM_002630,p.D301N|ENST00000373025,p.D301N	protein_coding	uc003ora.2	nonsynonymous SNV	exon7	c.G901A	p.D301N	MSALLQATGAQEDEYGQFLVNCNSI	MSALLQATGAQENEYGQFLVNCNSI	1.0	2.0	unscreened	-	3784_6:41707551-41707551 C>T_MSALLQATGAQENEYGQFLVNCNSI
2:48898751-48898751 G>A	0.0	3784	MELANOMA	-	-	-	-	GTF2A1L,STON1-GTF2A1L	uc021vhf.1,p.D1125N|ENST00000402114,p.D1125N|NM_001193487,p.D387N|ENST00000403751,p.D421N|NM_006872,p.D421N|uc010yom.2,p.D387N|NM_172311,p.D1125N|uc002rwp.2,p.D1125N|uc010yol.2,p.D1078N|ENST00000394754,p.D1125N|NM_001198593,p.D1125N|uc002rws.2,p.D421N|ENST00000508440,p.D70N|ENST00000430487,p.D387N|ENST00000309827,p.D1125N|ENST00000394751,p.D1078N|NM_001198594,p.D1078N|ENST00000405008,p.D1125N	protein_coding, processed_transcript	uc021vhf.1	nonsynonymous SNV	exon10	c.G3373A	p.D1125N	NIVEEDPLNSGDDVSEQDVPDLFDT	NIVEEDPLNSGDNVSEQDVPDLFDT	4.0	9.0	unscreened	-	3784_2:48898751-48898751 G>A_NIVEEDPLNSGDNVSEQDVPDLFDT
19:51169702-51169702 G>A	0.0	3784	MELANOMA	-	-	-	-	SHANK1	ENST00000468654,p.P97S|ENST00000293441,p.P1839S|NM_016148,p.P1839S|ENST00000391813,p.P1226S|uc002psx.1,p.P1839S|ENST00000391814,p.P1847S|ENST00000359082,p.P1830S|uc002psw.1,p.P1223S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002psx.1	nonsynonymous SNV	exon22	c.C5515T	p.P1839S	LPTASSLPRKLLPWEEGPGPPPPPL	LPTASSLPRKLLSWEEGPGPPPPPL	1.0	5.0	unscreened	-	3784_19:51169702-51169702 G>A_LPTASSLPRKLLSWEEGPGPPPPPL
9:78638675-78638675 C>T	0.0	3784	MELANOMA	-	-	ID=COSM3780774,COSM3780775,COSM3780776;OCCURENCE=1(pancreas)	-	PCSK5	NM_001190482,p.P145S|ENST00000376752,p.P145S|ENST00000376767,p.P145S|uc004akc.2,p.P145S|NM_006200,p.P145S|uc004ajz.3,p.P145S|ENST00000545128,p.P145S|uc004ajy.2,p.P145S	protein_coding	uc004akc.2	nonsynonymous SNV	exon4	c.C433T	p.P145S	SMWYMHCSDNTHPCQSDMNIEGAWK	SMWYMHCSDNTHSCQSDMNIEGAWK	2.0	1.0	unscreened	-	3784_9:78638675-78638675 C>T_SMWYMHCSDNTHSCQSDMNIEGAWK
3:39228178-39228178 G>A	0.0	3784	MELANOMA	-	-	-	-	XIRP1	NM_001198621,p.A920V|NM_194293,p.A920V|uc003cjk.2,p.A920V|uc003cji.3,p.A920V|ENST00000340369,p.A920V|uc021wvz.1,p.A920V|ENST00000396251,p.A920V	protein_coding	uc021wvz.1	nonsynonymous SNV	exon1	c.C2759T	p.A920V	TAYSLQPRLTSKASERSSVQLLASC	TAYSLQPRLTSKVSERSSVQLLASC	2.0	7.0	unscreened	-	3784_3:39228178-39228178 G>A_TAYSLQPRLTSKVSERSSVQLLASC
2:99635081-99635081 C>T	0.0	3784	MELANOMA	-	-	-	-	TSGA10	uc002szi.4,p.A614T|ENST00000409564,p.A544T|uc010fin.1,p.A614T|uc002szh.4,p.A614T|NM_025244,p.A614T|ENST00000539964,p.A614T|ENST00000355053,p.A614T|NM_182911,p.A614T|ENST00000393483,p.A614T|ENST00000393482,p.A614T|uc002szg.4,p.A614T|ENST00000410001,p.A614T	retained_intron, protein_coding, processed_transcript	uc010fin.1	nonsynonymous SNV	exon17	c.G1840A	p.A614T	AENKMAIQSRDVAQFRNVVTQLEAD	AENKMAIQSRDVTQFRNVVTQLEAD	5.0	8.0	unscreened	-	3784_2:99635081-99635081 C>T_AENKMAIQSRDVTQFRNVVTQLEAD
10:61829978-61829978 A>G	0.0	3784	MELANOMA	-	-	-	-	ANK3	ENST00000280772,p.V3554A|uc001jky.3,p.V3554A|NM_020987,p.V3554A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jky.3	nonsynonymous SNV	exon37	c.T10661C	p.V3554A	FDPWSNNRGDDEVFDSKSREDETKP	FDPWSNNRGDDEAFDSKSREDETKP	5.0	10.0	unscreened	-	3784_10:61829978-61829978 A>G_FDPWSNNRGDDEAFDSKSREDETKP
4:71346720-71346720 C>T	0.0	3784	MELANOMA	-	-	-	-	MUC7	ENST00000413702,p.P87S|NM_001145006,p.P87S|NM_001145007,p.P87S|ENST00000505411,p.P87S|NM_152291,p.P87S|uc011cau.2,p.P87S|ENST00000456088,p.P87S|uc011cat.2,p.P87S|ENST00000304887,p.P87S|uc003hfj.3,p.P87S	retained_intron, protein_coding, processed_transcript	uc011cau.2	nonsynonymous SNV	exon4	c.C259T	p.P87S	PPSPNNPPKFPNPHQPPKHPDKNSS	PPSPNNPPKFPNSHQPPKHPDKNSS	7.0	3.0	unscreened	-	3784_4:71346720-71346720 C>T_PPSPNNPPKFPNSHQPPKHPDKNSS
1:79470778-79470778 C>T	0.0	3784	MELANOMA	-	-	-	-	ELTD1	ENST00000370742,p.G50E|NM_022159,p.G50E|uc001diq.4,p.G50E	protein_coding	uc001diq.4	nonsynonymous SNV	exon2	c.G149A	p.G50E	GIEACYCNMGFSGNGVTICEDDNEC	GIEACYCNMGFSENGVTICEDDNEC	8.0	5.0	unscreened	-	3784_1:79470778-79470778 C>T_GIEACYCNMGFSENGVTICEDDNEC
2:185798354-185798354 G>A	0.0	3784	MELANOMA	-	-	-	-	ZNF804A	NM_194250,p.E94K|ENST00000302277,p.E94K|uc002uph.3,p.E94K	protein_coding	uc002uph.3	nonsynonymous SNV	exon3	c.G280A	p.E94K	AHKQRLKELKQREFARNVASKSRKD	AHKQRLKELKQRKFARNVASKSRKD	2.0	3.0	unscreened	-	3784_2:185798354-185798354 G>A_AHKQRLKELKQRKFARNVASKSRKD
14:20711528-20711528 C>T	0.0	3784	MELANOMA	-	-	-	-	OR11H4	ENST00000315409,p.P193L|uc010tld.2,p.P193L|NM_001004479,p.P193L	protein_coding	uc010tld.2	nonsynonymous SNV	exon1	c.C578T	p.P193L	PNIIDHFLCDMDPLMALSCAPAPIT	PNIIDHFLCDMDLLMALSCAPAPIT	1.0	8.0	unscreened	-	3784_14:20711528-20711528 C>T_PNIIDHFLCDMDLLMALSCAPAPIT
15:94910994-94910994 G>A	0.0	3784	MELANOMA	-	-	-	-	MCTP2	uc002btk.4,p.E76K|ENST00000451018,p.E488K|uc010boj.3,p.E217K|ENST00000557742,p.E76K|ENST00000331706,p.E76K|uc002btl.3,p.E76K|ENST00000357742,p.E488K|NM_018349,p.E488K|NM_001159643,p.E488K|NM_001159644,p.E76K|uc002bti.2,p.E488K|uc002btj.3,p.E488K|uc010bok.3,p.E488K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bok.3	nonsynonymous SNV	exon10	c.G1462A	p.E488K	SDLCVCPLADLSERKQITQRYCLQN	SDLCVCPLADLSKRKQITQRYCLQN	4.0	5.0	unscreened	-	3784_15:94910994-94910994 G>A_SDLCVCPLADLSKRKQITQRYCLQN
7:55238050-55238050 C>T	0.0	3784	MELANOMA	-	-	-	1	EGFR	NM_201284,p.S644L|uc003tqj.3,p.S644L|ENST00000344576,p.S644L	retained_intron, protein_coding, processed_transcript	uc003tqj.3	nonsynonymous SNV	exon16	c.C1931T	p.S644L	SLKAMLFCLFKLSSCNQSNDGSVSH	SLKAMLFCLFKLLSCNQSNDGSVSH	4.0	1.0	unscreened	-	3784_7:55238050-55238050 C>T_SLKAMLFCLFKLLSCNQSNDGSVSH
11:132306619-132306619 C>T	0.0	3784	MELANOMA	-	-	-	-	OPCML	NM_001012393,p.G233D|ENST00000524381,p.G233D|uc001qgu.3,p.G233D|uc010sck.2,p.G240D|ENST00000331898,p.G240D|uc001qgs.3,p.G240D|NM_002545,p.G240D|uc001qgt.3,p.G239D|uc010scl.2,p.G199D|ENST00000374778,p.G199D|ENST00000541867,p.G240D	protein_coding, processed_transcript	uc010scl.2	nonsynonymous SNV	exon6	c.G596A	p.G199D	KAKNTGVSVGQKGILSCEASAVPMA	KAKNTGVSVGQKDILSCEASAVPMA	1.0	9.0	unscreened	-	3784_11:132306619-132306619 C>T_KAKNTGVSVGQKDILSCEASAVPMA
20:948625-948625 C>T	0.0	3784	MELANOMA	-	-	-	-	RSPO4	NM_001029871,p.G79D|uc002wej.3,p.G79D|ENST00000217260,p.G79D|NM_001040007,p.G79D|ENST00000400634,p.G79D|uc002wek.3,p.G79D	protein_coding	uc002wek.3	nonsynonymous SNV	exon2	c.G236A	p.G79D	GKCLHDCPPGYFGIRGQEVNRCKKC	GKCLHDCPPGYFDIRGQEVNRCKKC	2.0	4.0	unscreened	-	3784_20:948625-948625 C>T_GKCLHDCPPGYFDIRGQEVNRCKKC
5:35771853-35771853 C>T	0.0	3784	MELANOMA	-	-	-	-	SPEF2	uc003jjp.1,p.P801L|ENST00000356031,p.P1315L|ENST00000440995,p.P1310L|uc003jjo.3,p.P1315L|NM_024867,p.P1315L	retained_intron, protein_coding, nonsense_mediated_decay	uc003jjp.1	nonsynonymous SNV	exon17	c.C2402T	p.P801L	KEPPKKKQEDKKPKGKSPPMAEATP	KEPPKKKQEDKKLKGKSPPMAEATP	6.0	3.0	unscreened	-	3784_5:35771853-35771853 C>T_KEPPKKKQEDKKLKGKSPPMAEATP
3:25216054-25216054 C>T	0.0	3784	MELANOMA	-	-	-	-	RARB	uc011awl.2,p.P56S|NM_001290216,p.P56S|ENST00000383772,p.P56S|ENST00000404969,p.P56S	protein_coding, processed_transcript	uc011awl.2	nonsynonymous SNV	exon1	c.C166T	p.P56S	LHGHPPPSGCSTPSPATIETQSTSS	LHGHPPPSGCSTSSPATIETQSTSS	8.0	8.0	unscreened	-	3784_3:25216054-25216054 C>T_LHGHPPPSGCSTSSPATIETQSTSS
19:10103546-10103546 C>T	0.0	3784	MELANOMA	-	-	-	-	COL5A3	uc002mmq.1,p.G602E|NM_015719,p.G602E|ENST00000264828,p.G602E	retained_intron, protein_coding	uc002mmq.1	nonsynonymous SNV	exon21	c.G1805A	p.G602E	GPTGQAGEPGPRGLLGPRGSPGPTG	GPTGQAGEPGPRELLGPRGSPGPTG	6.0	5.0	unscreened	-	3784_19:10103546-10103546 C>T_GPTGQAGEPGPRELLGPRGSPGPTG
4:175604073-175604073 C>T	0.0	3784	MELANOMA	-	-	-	-	GLRA3	ENST00000274093,p.D198N|uc003ity.1,p.D198N|ENST00000340217,p.D198N|uc003itz.1,p.D198N|NM_006529,p.D198N|NM_001042543,p.D198N	protein_coding, processed_transcript	uc003itz.1	nonsynonymous SNV	exon6	c.G592A	p.D198N	IMQLESFGYTMNDLIFEWQDEAPVQ	IMQLESFGYTMNNLIFEWQDEAPVQ	1.0	8.0	unscreened	-	3784_4:175604073-175604073 C>T_IMQLESFGYTMNNLIFEWQDEAPVQ
15:33873844-33873844 G>T	0.0	3784	MELANOMA	-	-	-	-	RYR3	ENST00000415757,p.A525S|ENST00000389232,p.A525S|NM_001036,p.A525S|NM_001243996,p.A525S|uc001zhi.3,p.A525S|uc010bar.3,p.A525S	retained_intron, protein_coding, processed_transcript	uc010bar.3	nonsynonymous SNV	exon14	c.G1573T	p.A525S	WKEILNLLYKLLAALIRGNRNNCAQ	WKEILNLLYKLLSALIRGNRNNCAQ	1.0	3.0	unscreened	-	3784_15:33873844-33873844 G>T_WKEILNLLYKLLSALIRGNRNNCAQ
3:108776193-108776193 G>A	0.0	3784	MELANOMA	-	-	-	-	MORC1	uc003dxl.3,p.S391F|ENST00000483760,p.S391F|NM_014429,p.S391F|ENST00000232603,p.S391F|uc011bhn.2,p.S391F	protein_coding	uc011bhn.2	nonsynonymous SNV	exon13	c.C1172T	p.S391F	MHEKVGSQLKLKSLLGAGVVGIVNI	MHEKVGSQLKLKFLLGAGVVGIVNI	6.0	2.0	unscreened	-	3784_3:108776193-108776193 G>A_MHEKVGSQLKLKFLLGAGVVGIVNI
8:104943557-104943557 C>T	0.0	3784	MELANOMA	-	-	-	-	RIMS2	uc003ylq.3,p.P563S|ENST00000515551,p.P563S|NM_001100117,p.P771S|ENST00000504942,p.P771S|ENST00000507740,p.P563S|NM_014677,p.P563S|uc003ylt.3,p.P156S|uc003ylr.3,p.P610S|ENST00000408894,p.P563S|ENST00000406091,p.P771S|ENST00000262231,p.P610S|uc003ylp.3,p.P771S|uc003yls.3,p.P549S|ENST00000436393,p.P549S|uc003ylw.2,p.P563S|NM_001282881,p.P610S	retained_intron, protein_coding, processed_transcript	uc003ylw.2	nonsynonymous SNV	exon9	c.C1687T	p.P563S	QLIVTILGAKDLPSREDGRPRNPYV	QLIVTILGAKDLSSREDGRPRNPYV	4.0	9.0	unscreened	-	3784_8:104943557-104943557 C>T_QLIVTILGAKDLSSREDGRPRNPYV
6:36733140-36733140 C>T	0.0	3784	MELANOMA	-	-	-	-	CPNE5	uc003omr.1,p.E251K|NM_020939,p.E251K|uc003oms.1,p.E230K|ENST00000244751,p.E251K	protein_coding, processed_transcript	uc003oms.1	nonsynonymous SNV	exon12	c.G688A	p.E230K	LCNGDYDRTIKVEVYDWDRDGSHDF	LCNGDYDRTIKVKVYDWDRDGSHDF	4.0	3.0	unscreened	-	3784_6:36733140-36733140 C>T_LCNGDYDRTIKVKVYDWDRDGSHDF
5:158601106-158601106 G>A	1.0	3784	MELANOMA	-	-	-	-	RNF145	NM_144726,p.P256S|uc003lxp.3,p.P228S|uc010jiq.2,p.P258S|ENST00000519865,p.P228S|ENST00000424310,p.P228S|uc011dea.2,p.P244S|ENST00000518802,p.P258S|ENST00000520638,p.P242S|NM_001199381,p.P245S|NM_001199383,p.P228S|ENST00000521606,p.P245S|NM_001199380,p.P258S|uc003lxo.2,p.P256S|ENST00000274542,p.P256S|NM_001199382,p.P242S|uc011ddz.2,p.P245S|uc011ddy.2,p.P242S	retained_intron, protein_coding, processed_transcript	uc011dea.2	nonsynonymous SNV	exon6	c.C730T	p.P244S	ALGMSLWNQLVVPVLFMVFWLVLFA	ALGMSLWNQLVVSVLFMVFWLVLFA	9.0	5.0	-	-	3784_5:158601106-158601106 G>A_ALGMSLWNQLVVSVLFMVFWLVLFA
19:9014700-9014700 C>T	0.0	3784	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.E12759K|NM_024690,p.E12759K|ENST00000397910,p.E12759K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon31	c.G38275A	p.E12759K	LYSGCRLTLLRSEKDGAATGVDAIC	LYSGCRLTLLRSKKDGAATGVDAIC	1.0	6.0	unscreened	-	3784_19:9014700-9014700 C>T_LYSGCRLTLLRSKKDGAATGVDAIC
3:42956203-42956203 C>T	0.0	3784	MELANOMA	-	-	-	-	ZNF662	NM_207404,p.T213I|uc003cmk.2,p.T239I|uc003cmj.2,p.T105I|ENST00000541208,p.T213I|ENST00000440367,p.T213I|uc003cmi.2,p.T213I|NM_001134656,p.T239I|ENST00000328199,p.T239I	retained_intron, protein_coding, processed_transcript	uc003cmk.2	nonsynonymous SNV	exon4	c.C716T	p.T239I	FDQNEDFDQHQKTHNGEKVYGCKEC	FDQNEDFDQHQKIHNGEKVYGCKEC	4.0	8.0	unscreened	-	3784_3:42956203-42956203 C>T_FDQNEDFDQHQKIHNGEKVYGCKEC
4:115791935-115791935 G>A	0.0	3784	MELANOMA	-	-	-	-	NDST4	ENST00000264363,p.P570S|ENST00000504854,p.P191S|uc003ibu.3,p.P570S|NM_022569,p.P570S	retained_intron, protein_coding, nonsense_mediated_decay	uc003ibu.3	nonsynonymous SNV	exon7	c.C1708T	p.P570S	HQYFELFPEQKDPLWQNPCDDKRHK	HQYFELFPEQKDSLWQNPCDDKRHK	1.0	2.0	unscreened	-	3784_4:115791935-115791935 G>A_HQYFELFPEQKDSLWQNPCDDKRHK
5:153065807-153065807 G>A	0.0	3784	MELANOMA	-	-	-	-	GRIA1	NM_001258021,p.G361E|NM_001114183,p.G351E|ENST00000521843,p.G282E|uc011dcx.2,p.G282E|ENST00000518142,p.G271E|NM_001258020,p.G256E|ENST00000340592,p.G351E|ENST00000518783,p.G361E|NM_001258023,p.G282E|uc011dcz.2,p.G361E|uc003luz.4,p.G256E|NM_001258019,p.G271E|uc003lva.4,p.G351E|NM_000827,p.G351E|uc010jia.1,p.G331E|uc011dcw.2,p.G271E|ENST00000285900,p.G351E|NM_001258022,p.G361E|uc003luy.4,p.G351E|uc011dcy.2,p.G361E|ENST00000448073,p.G361E	retained_intron, protein_coding, processed_transcript	uc011dcz.2	nonsynonymous SNV	exon8	c.G1082A	p.G361E	RALQQVRFEGLTGNVQFNEKGRRTN	RALQQVRFEGLTENVQFNEKGRRTN	1.0	2.0	unscreened	-	3784_5:153065807-153065807 G>A_RALQQVRFEGLTENVQFNEKGRRTN
17:10401200-10401200 C>T	0.0	3784	MELANOMA	-	-	-	-	MYH1	ENST00000226207,p.E1406K|uc002gmo.3,p.E1406K|NM_005963,p.E1406K	protein_coding	uc002gmo.3	nonsynonymous SNV	exon31	c.G4216A	p.E1406K	KKKLAQRLQDAEEHVEAVNAKCASL	KKKLAQRLQDAEKHVEAVNAKCASL	1.0	5.0	unscreened	-	3784_17:10401200-10401200 C>T_KKKLAQRLQDAEKHVEAVNAKCASL
8:71068822-71068822 G>A	1.0	3784	MELANOMA	-	-	-	1	NCOA2	ENST00000518287,p.S593F|ENST00000452400,p.S593F|NM_006540,p.S593F|uc003xyn.1,p.S593F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xyn.1	nonsynonymous SNV	exon11	c.C1778T	p.S593F	DSKDCFGLYGEPSEGTTGQAESSCH	DSKDCFGLYGEPFEGTTGQAESSCH	9.0	4.0	-	-	3784_8:71068822-71068822 G>A_DSKDCFGLYGEPFEGTTGQAESSCH
3:38798322-38798322 A>C	0.0	3784	MELANOMA	-	-	-	-	SCN10A	NM_001293307,p.V378G|NM_006514,p.V378G|uc003ciq.3,p.V378G|NM_001293306,p.V378G|ENST00000449082,p.V378G	protein_coding	uc003ciq.3	nonsynonymous SNV	exon9	c.T1133G	p.V378G	LRTSGKIYMIFFVLVIFLGSFYLVN	LRTSGKIYMIFFGLVIFLGSFYLVN	1.0	2.0	unscreened	-	3784_3:38798322-38798322 A>C_LRTSGKIYMIFFGLVIFLGSFYLVN
15:51207761-51207761 A>T	0.0	3784	MELANOMA	-	-	-	-	AP4E1	ENST00000561441,p.K113N|uc010ufi.2,p.K113N|NM_001252127,p.K38N|ENST00000558439,p.K113N|uc021skz.1,p.K38N|ENST00000561393,p.K38N|ENST00000560508,p.K38N|ENST00000261842,p.K113N|NM_007347,p.K113N|uc001zyx.2,p.K113N	protein_coding, processed_transcript, nonsense_mediated_decay	uc021skz.1	nonsynonymous SNV	exon3	c.A114T	p.K38N	AIKLAQQGNLLEKRVGYLAVSLFLH	AIKLAQQGNLLENRVGYLAVSLFLH	5.0	8.0	unscreened	-	3784_15:51207761-51207761 A>T_AIKLAQQGNLLENRVGYLAVSLFLH
19:3747855-3747855 G>A	0.0	3784	MELANOMA	-	-	-	-	TJP3	uc010xhu.3,p.D805N|ENST00000262968,p.D829N|ENST00000541714,p.D796N|ENST00000589378,p.D805N|NM_001267560,p.D796N|ENST00000382008,p.D810N|uc010xht.3,p.D760N|ENST00000587686,p.D815N|uc010xhw.3,p.D796N|NM_001267561,p.D805N|ENST00000539908,p.D760N|uc010xhs.3,p.D796N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xhw.3	nonsynonymous SNV	exon18	c.G2386A	p.D796N	DLPHHGLADSSADLSCDSRVNSDYE	DLPHHGLADSSANLSCDSRVNSDYE	1.0	9.0	unscreened	-	3784_19:3747855-3747855 G>A_DLPHHGLADSSANLSCDSRVNSDYE
8:104924360-104924360 G>T	0.0	3784	MELANOMA	-	-	-	-	RIMS2	NM_001282881,p.G446V|NM_001100117,p.G591V|ENST00000406091,p.G591V|uc003ylq.3,p.G399V|uc003ylr.3,p.G446V|ENST00000515551,p.G399V|uc003ylw.2,p.G399V|uc003yls.3,p.G369V|NM_014677,p.G399V|ENST00000504942,p.G591V|ENST00000262231,p.G446V|ENST00000507740,p.G399V|ENST00000436393,p.G369V|ENST00000408894,p.G399V|uc003ylp.3,p.G591V	retained_intron, protein_coding, processed_transcript	uc003ylw.2	nonsynonymous SNV	exon4	c.G1196T	p.G399V	IGRILLNKRLKDGSVPRDSGAMLGL	IGRILLNKRLKDVSVPRDSGAMLGL	4.0	6.0	unscreened	-	3784_8:104924360-104924360 G>T_IGRILLNKRLKDVSVPRDSGAMLGL
5:153026607-153026607 C>T	0.0	3784	MELANOMA	-	-	-	-	GRIA1	NM_001258023,p.P45S|uc011dcx.2,p.P45S|uc011dcy.2,p.P124S|NM_001258021,p.P124S|NM_000827,p.P114S|ENST00000285900,p.P114S|ENST00000521843,p.P45S|ENST00000518783,p.P124S|uc003lva.4,p.P114S|NM_001114183,p.P114S|ENST00000340592,p.P114S|NM_001258020,p.P19S|uc010jia.1,p.P94S|uc003luz.4,p.P19S|NM_001258022,p.P124S|uc003luy.4,p.P114S|ENST00000448073,p.P124S|uc011dcz.2,p.P124S	retained_intron, protein_coding, processed_transcript	uc011dcz.2	nonsynonymous SNV	exon3	c.C370T	p.P124S	GALHVCFITPSFPVDTSNQFVLQLR	GALHVCFITPSFSVDTSNQFVLQLR	1.0	7.0	unscreened	-	3784_5:153026607-153026607 C>T_GALHVCFITPSFSVDTSNQFVLQLR
14:70634428-70634428 G>A	0.0	3784	MELANOMA	-	-	-	-	SLC8A3	uc001xlw.3,p.L238F|uc001xly.3,p.L238F|ENST00000494208,p.L238F|ENST00000381269,p.L238F|uc001xlx.3,p.L238F|NM_182932,p.L238F|ENST00000356921,p.L238F|NM_183002,p.L238F|uc001xlz.3,p.L238F|ENST00000534137,p.L238F|NM_058240,p.L238F|ENST00000528359,p.L238F|ENST00000357887,p.L238F|NM_033262,p.L238F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001xlz.3	nonsynonymous SNV	exon2	c.C712T	p.L238F	PGVVQVWEGLLTLFFFPVCVLLAWV	PGVVQVWEGLLTFFFFPVCVLLAWV	3.0	8.0	unscreened	-	3784_14:70634428-70634428 G>A_PGVVQVWEGLLTFFFFPVCVLLAWV
5:35957460-35957460 G>A	0.0	3784	MELANOMA	-	-	-	-	UGT3A1	ENST00000507113,p.S268F|uc011cor.2,p.S268F|uc011coq.2,p.S302F|uc003jjv.2,p.S302F|NM_152404,p.S302F|ENST00000503189,p.S302F|ENST00000274278,p.S302F	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cor.2	nonsynonymous SNV	exon4	c.C803T	p.S268F	FGDAGFVLVAFGSMLNTHQSQEVLK	FGDAGFVLVAFGFMLNTHQSQEVLK	1.0	8.0	unscreened	-	3784_5:35957460-35957460 G>A_FGDAGFVLVAFGFMLNTHQSQEVLK
15:90272258-90272258 G>A	0.0	3784	MELANOMA	-	-	ID=COSM4128559;OCCURENCE=1(thyroid)	-	WDR93	NM_001284395,p.A353T|ENST00000557825,p.A70T|ENST00000268130,p.A353T|NM_020212,p.A353T|uc002boj.3,p.A353T|uc010bnr.3,p.A353T|uc010upz.2,p.A70T|ENST00000560294,p.A353T|ENST00000444934,p.A70T	protein_coding	uc010upz.2	nonsynonymous SNV	exon4	c.G208A	p.A70T	LDREWEEEPLSTATFYFLLPSCLFA	LDREWEEEPLSTTTFYFLLPSCLFA	1.0	6.0	unscreened	-	3784_15:90272258-90272258 G>A_LDREWEEEPLSTTTFYFLLPSCLFA
3:69988295-69988295 C>T	1.0	3784	MELANOMA	-	-	-	1	MITF	ENST00000478490,p.P103L	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000478490	nonsynonymous SNV	exon3	c.C308T	p.P103L	KFEEQNRAESECPDG	KFEEQNRAESECLDG	10.0	2.0	-	-	3784_3:69988295-69988295 C>T_KFEEQNRAESECLDG
11:103908728-103908728 G>A	0.0	3784	MELANOMA	0.0005	-	ID=COSM1350496,COSM1350497;OCCURENCE=1(large_intestine)	-	DDI1	ENST00000302259,p.R393Q|uc001phr.2,p.R393Q|NM_001001711,p.R393Q	protein_coding	uc001phr.2	nonsynonymous SNV	exon1	c.G1178A	p.R393Q	DKEITHSVMDSGRKEH	DKEITHSVMDSGQKEH	1.0	9.0	unscreened	-	3784_11:103908728-103908728 G>A_DKEITHSVMDSGQKEH
12:124305186-124305186 G>A	0.0	3784	MELANOMA	-	-	-	-	DNAH10	uc001uft.4,p.E1236K|ENST00000409039,p.E1236K|NM_207437,p.E1236K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uft.4	nonsynonymous SNV	exon23	c.G3706A	p.E1236K	ERELARHEKSRQELANAEKLFDLPI	ERELARHEKSRQKLANAEKLFDLPI	2.0	7.0	unscreened	-	3784_12:124305186-124305186 G>A_ERELARHEKSRQKLANAEKLFDLPI
3:111898545-111898545 C>T	0.0	3784	MELANOMA	-	-	-	-	SLC9C1	NM_183061,p.E918K|uc010hqc.3,p.E870K|uc003dyu.3,p.E918K|ENST00000487372,p.E870K|uc011bhu.2,p.E181K|ENST00000305815,p.E918K	protein_coding, processed_transcript, nonsense_mediated_decay	uc011bhu.2	nonsynonymous SNV	exon16	c.G541A	p.E181K	GIYIIISGMVKLEKSKPGLGIDQMV	GIYIIISGMVKLKKSKPGLGIDQMV	2.0	6.0	unscreened	-	3784_3:111898545-111898545 C>T_GIYIIISGMVKLKKSKPGLGIDQMV
11:59190152-59190152 G>A	0.0	3784	MELANOMA	-	-	-	-	OR5A2	ENST00000302040,p.T92I|NM_001001954,p.T92I|uc010rkt.2,p.T92I	protein_coding	uc010rkt.2	nonsynonymous SNV	exon1	c.C275T	p.T92I	PKMLSDIITEQKTISFVGCATQYFV	PKMLSDIITEQKIISFVGCATQYFV	1.0	7.0	unscreened	-	3784_11:59190152-59190152 G>A_PKMLSDIITEQKIISFVGCATQYFV
10:22678156-22678156 G>A	0.0	3784	MELANOMA	-	-	-	-	SPAG6	NM_001253854,p.G282E|NM_012443,p.G307E|uc021poe.1,p.G33E|NM_001253855,p.G285E|uc001irj.3,p.G307E|ENST00000376603,p.G383E|uc010qct.2,p.G282E|uc001iri.3,p.G307E|ENST00000376624,p.G307E|ENST00000538630,p.G282E|uc009xkh.3,p.G285E|ENST00000313311,p.G307E|NM_172242,p.G307E	protein_coding, processed_transcript	uc021poe.1	nonsynonymous SNV	exon2	c.G98A	p.G33E	VAAVIDCIGSCKGNTRLPGIMMLGY	VAAVIDCIGSCKENTRLPGIMMLGY	1.0	2.0	unscreened	-	3784_10:22678156-22678156 G>A_VAAVIDCIGSCKENTRLPGIMMLGY
12:75804343-75804343 G>A	0.0	3784	MELANOMA	-	-	-	-	GLIPR1L2	uc001sxq.2,p.V15I|ENST00000550916,p.V122I|NM_001270396,p.V122I|ENST00000378692,p.V15I|ENST00000441218,p.V57I|ENST00000435775,p.V122I|ENST00000320460,p.V122I|NM_152436,p.V122I|uc001sxp.2,p.V122I|uc001sxr.2,p.V122I|ENST00000547164,p.V122I	protein_coding	uc001sxr.2	nonsynonymous SNV	exon2	c.G364A	p.V122I	HPKFYGIGENMWVGPENEFTASIAI	HPKFYGIGENMWIGPENEFTASIAI	1.0	2.0	unscreened	-	3784_12:75804343-75804343 G>A_HPKFYGIGENMWIGPENEFTASIAI
3:124437797-124437797 G>A	0.0	3784	MELANOMA	-	-	-	-	KALRN	NM_007064,p.R1117Q|ENST00000291478,p.R1117Q|uc003ehg.3,p.R2814Q|NM_001024660,p.R2814Q|ENST00000360013,p.R2814Q|ENST00000428018,p.R1085Q|uc003ehk.3,p.R1117Q	retained_intron, protein_coding, processed_transcript	uc003ehk.3	nonsynonymous SNV	exon27	c.G3350A	p.R1117Q	LDIKPENLLIDLRIPVPRVKLIDLE	LDIKPENLLIDLQIPVPRVKLIDLE	6.0	4.0	unscreened	-	3784_3:124437797-124437797 G>A_LDIKPENLLIDLQIPVPRVKLIDLE
1:63063622-63063622 G>A	0.0	3784	MELANOMA	-	-	-	-	ANGPTL3	uc001das.2,p.E129K|ENST00000371129,p.E129K|NM_014495,p.E129K	protein_coding, processed_transcript	uc001das.2	nonsynonymous SNV	exon1	c.G385A	p.E129K	SLELNSKLESLLEEKILLQQKVKYL	SLELNSKLESLLKEKILLQQKVKYL	1.0	4.0	unscreened	-	3784_1:63063622-63063622 G>A_SLELNSKLESLLKEKILLQQKVKYL
11:1084844-1084844 G>A	0.0	3784	MELANOMA	-	-	-	-	MUC2	uc001lsx.1,p.G880E|ENST00000359061,p.G880E|NM_002457,p.G880E|ENST00000441003,p.G880E	protein_coding	uc001lsx.1	nonsynonymous SNV	exon20	c.G2639A	p.G880E	YITFDGKYYDFDGHCSYVAVQDYCG	YITFDGKYYDFDEHCSYVAVQDYCG	1.0	4.0	unscreened	-	3784_11:1084844-1084844 G>A_YITFDGKYYDFDEHCSYVAVQDYCG
9:39887482-39887482 C>T	0.0	3784	MELANOMA	-	-	ID=COSM3736484;OCCURENCE=1(skin)	-	SPATA31A1	NM_001085452,p.P171S|uc004abp.3,p.P157S|ENST00000456183,p.P157S	protein_coding	uc004abp.3	nonsynonymous SNV	exon4	c.C469T	p.P157S	AAPILSPLASPDPQAKHPQDLASTP	AAPILSPLASPDSQAKHPQDLASTP	1.0	2.0	unscreened	-	3784_9:39887482-39887482 C>T_AAPILSPLASPDSQAKHPQDLASTP
17:76525693-76525693 A>C	0.0	3784	MELANOMA	-	-	-	-	DNAH17	ENST00000585328,p.V1120G|uc010dhp.2,p.V1123G|ENST00000389840,p.V1123G|NM_173628,p.V1123G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dhp.2	nonsynonymous SNV	exon22	c.T3368G	p.V1123G	TKPLKEGDYDGLVEVMGHLMKVKER	TKPLKEGDYDGLGEVMGHLMKVKER	2.0	4.0	unscreened	-	3784_17:76525693-76525693 A>C_TKPLKEGDYDGLGEVMGHLMKVKER
9:73479354-73479354 G>A	0.0	3784	MELANOMA	-	-	-	-	TRPM3	ENST00000357533,p.P86L|uc010mor.3,p.P84L|uc004aii.3,p.P86L|uc004aid.3,p.P84L|uc004aic.3,p.P84L|ENST00000423814,p.P86L|NM_001007471,p.P84L|ENST00000377111,p.P84L|ENST00000377110,p.P84L	retained_intron, protein_coding, processed_transcript	uc010mor.3	nonsynonymous SNV	exon2	c.C251T	p.P84L	RECVHIIPSTKDPHRCCCGRLIGQH	RECVHIIPSTKDLHRCCCGRLIGQH	3.0	2.0	unscreened	-	3784_9:73479354-73479354 G>A_RECVHIIPSTKDLHRCCCGRLIGQH
5:33576424-33576424 A>G	0.0	3784	MELANOMA	-	-	-	-	ADAMTS12	uc010iuq.1,p.V1151A|uc003jia.1,p.V1236A|ENST00000504830,p.V1236A|NM_030955,p.V1236A|ENST00000352040,p.V1151A	protein_coding, processed_transcript	uc010iuq.1	nonsynonymous SNV	exon17	c.T3452C	p.V1151A	QRPTTSETGTPRVEGMVTEKPANTL	QRPTTSETGTPRAEGMVTEKPANTL	5.0	5.0	unscreened	-	3784_5:33576424-33576424 A>G_QRPTTSETGTPRAEGMVTEKPANTL
3:169539729-169539729 C>T	0.0	3784	MELANOMA	-	-	-	-	LRRIQ4	ENST00000340806,p.S7L|uc003fgb.3,p.S7L|NM_001080460,p.S7L	protein_coding	uc003fgb.3	nonsynonymous SNV	exon1	c.C20T	p.S7L	MSKDIKSVEHSPKIHQRND	MSKDIKLVEHSPKIHQRND	1.0	6.0	unscreened	-	3784_3:169539729-169539729 C>T_MSKDIKLVEHSPKIHQRND
9:118989781-118989781 C>T	0.0	3784	MELANOMA	-	-	-	-	PAPPA	NM_002581,p.S728F|uc004bjn.3,p.S728F|uc011lxp.1,p.S423F|ENST00000328252,p.S728F	protein_coding, processed_transcript	uc011lxp.1	nonsynonymous SNV	exon4	c.C1268T	p.S423F	GRILVQYASNASSPMPCSPSGHWSP	GRILVQYASNASFPMPCSPSGHWSP	1.0	8.0	unscreened	-	3784_9:118989781-118989781 C>T_GRILVQYASNASFPMPCSPSGHWSP
5:159656613-159656613 G>A	0.0	3784	MELANOMA	-	-	-	-	FABP6	ENST00000402432,p.E17K|ENST00000393982,p.E66K|uc003lxx.1,p.E66K|NM_001445,p.E17K|uc003lxz.1,p.E66K|ENST00000393980,p.E66K|NM_001040442,p.E66K|NM_001130958,p.E66K|uc003lya.1,p.E17K	retained_intron, protein_coding, nonsense_mediated_decay	uc003lya.1	nonsynonymous SNV	exon1	c.G49A	p.E17K	GKFEMESEKNYDEFMKLLGISSDVI	GKFEMESEKNYDKFMKLLGISSDVI	1.0	7.0	unscreened	-	3784_5:159656613-159656613 G>A_GKFEMESEKNYDKFMKLLGISSDVI
8:76465357-76465357 G>A	0.0	3784	MELANOMA	-	-	-	-	HNF4G	ENST00000354370,p.M143I|NM_004133,p.M180I|ENST00000396423,p.M180I|uc003yar.3,p.M180I|uc003yaq.3,p.M143I	protein_coding, processed_transcript	uc003yar.3	nonsynonymous SNV	exon5	c.G540A	p.M180I	KKIASIGDVCESMKQQLLVLVEWAK	KKIASIGDVCESIKQQLLVLVEWAK	3.0	2.0	unscreened	-	3784_8:76465357-76465357 G>A_KKIASIGDVCESIKQQLLVLVEWAK
16:1272724-1272724 G>A	0.0	3784	MELANOMA	-	-	-	-	TPSG1	uc002ckw.2,p.P147S|ENST00000234798,p.P147S|NM_012467,p.P147S	retained_intron, protein_coding	uc002ckw.2	nonsynonymous SNV	exon4	c.C439T	p.P147S	VTLSSRILPVCLPEASDDFCPGIRC	VTLSSRILPVCLSEASDDFCPGIRC	1.0	2.0	unscreened	-	3784_16:1272724-1272724 G>A_VTLSSRILPVCLSEASDDFCPGIRC
3:185434378-185434378 G>A	0.0	3784	MELANOMA	-	-	-	-	IGF2BP2-AS1	ENST00000296270,p.E71K|uc003fpr.2,p.E71K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003fpr.2	nonsynonymous SNV	exon2	c.G211A	p.E71K	CWAGHQTHVLSKEFTSYFSSGAGRE	CWAGHQTHVLSKKFTSYFSSGAGRE	1.0	4.0	unscreened	-	3784_3:185434378-185434378 G>A_CWAGHQTHVLSKKFTSYFSSGAGRE
13:92560267-92560267 C>T	0.0	3784	MELANOMA	-	-	-	-	GPC5	uc010tif.2,p.P453S|NM_004466,p.P453S|ENST00000377067,p.P453S	protein_coding, processed_transcript	uc010tif.2	nonsynonymous SNV	exon6	c.C1357T	p.P453S	SGNPEVKVKGIDPVINQIIDKLKHV	SGNPEVKVKGIDSVINQIIDKLKHV	4.0	7.0	unscreened	-	3784_13:92560267-92560267 C>T_SGNPEVKVKGIDSVINQIIDKLKHV
5:140180996-140180996 G>A	0.0	3784	MELANOMA	-	-	ID=COSM3239607,COSM3239606;OCCURENCE=1(large_intestine)	-	PCDHA3	uc011czz.2,p.G72R|ENST00000532566,p.G72R|ENST00000522353,p.G72R|NM_018906,p.G72R|NM_031497,p.G72R|uc003lhf.2,p.G72R	protein_coding	uc011czz.2	nonsynonymous SNV	exon1	c.G214A	p.G72R	VPRLFRVASKRHGDLLEVNLQNGIL	VPRLFRVASKRHRDLLEVNLQNGIL	1.0	6.0	unscreened	-	3784_5:140180996-140180996 G>A_VPRLFRVASKRHRDLLEVNLQNGIL
11:57983040-57983040 C>T	0.0	3784	MELANOMA	-	-	-	-	OR1S1	uc010rkc.2,p.P275L|ENST00000309433,p.P275L|NM_001004458,p.P275L	protein_coding	uc010rkc.2	nonsynonymous SNV	exon1	c.C824T	p.P275L	LFYGTIVGVYFFPSSTHPEDTDKIG	LFYGTIVGVYFFLSSTHPEDTDKIG	1.0	7.0	unscreened	-	3784_11:57983040-57983040 C>T_LFYGTIVGVYFFLSSTHPEDTDKIG
19:17160706-17160706 G>A	0.0	3784	MELANOMA	-	-	-	-	HAUS8	uc002nfe.3,p.R404C|NM_001011699,p.R403C|uc002nff.3,p.R403C|ENST00000593360,p.R343C|ENST00000253669,p.R404C|NM_033417,p.R404C|ENST00000448593,p.R403C	retained_intron, protein_coding, nonsense_mediated_decay	uc002nff.3	nonsynonymous SNV	exon11	c.C1207T	p.R403C	SSSQAEVPPSLSRSGRDLS	SSSQAEVPPSLSCSGRDLS	6.0	5.0	unscreened	-	3784_19:17160706-17160706 G>A_SSSQAEVPPSLSCSGRDLS
9:137775148-137775148 G>A	0.0	3784	MELANOMA	-	-	-	-	FCN2	uc004cfh.1,p.G34E|ENST00000350339,p.G34E|NM_015837,p.G34E	protein_coding	uc004cfh.1	nonsynonymous SNV	exon2	c.G101A	p.G34E	MAWALQAADTCPGERGPPGPPGKAG	MAWALQAADTCPEERGPPGPPGKAG	1.0	8.0	unscreened	-	3784_9:137775148-137775148 G>A_MAWALQAADTCPEERGPPGPPGKAG
2:116525917-116525917 G>A	0.0	3784	MELANOMA	-	-	-	-	DPP10	ENST00000410059,p.M386I|uc002tla.2,p.M386I|uc002tle.3,p.M390I|NM_001004360,p.M379I|NM_001178034,p.M390I|uc002tlc.2,p.M382I|ENST00000393147,p.M390I|NM_001178036,p.M336I|ENST00000409163,p.M336I|uc002tlf.2,p.M379I|NM_020868,p.M386I|ENST00000310323,p.M379I|NM_001178037,p.M382I|uc002tlb.2,p.M336I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tlf.2	nonsynonymous SNV	exon13	c.G1137A	p.M379I	EPVFSRDGSKFFMTVPVKQGGRGEF	EPVFSRDGSKFFITVPVKQGGRGEF	1.0	4.0	unscreened	-	3784_2:116525917-116525917 G>A_EPVFSRDGSKFFITVPVKQGGRGEF
11:60704132-60704132 G>A	0.0	3784	MELANOMA	-	-	-	-	TMEM132A	ENST00000005286,p.G943E|ENST00000453848,p.G942E|uc001nqi.3,p.G943E|uc001nqj.3,p.G942E|NM_017870,p.G943E|NM_178031,p.G942E	retained_intron, protein_coding, processed_transcript	uc001nqj.3	nonsynonymous SNV	exon11	c.G2825A	p.G942E	GGEAPTLAPGPPGGTTSSSSTLARK	GGEAPTLAPGPPEGTTSSSSTLARK	6.0	8.0	unscreened	-	3784_11:60704132-60704132 G>A_GGEAPTLAPGPPEGTTSSSSTLARK
12:8377350-8377350 G>A	0.0	3784	MELANOMA	-	-	-	-	FAM90A1	NM_018088,p.P27S|ENST00000307435,p.P27S|uc001qui.2,p.P27S|ENST00000538603,p.P27S|uc001quh.2,p.P27S	protein_coding	uc001qui.2	nonsynonymous SNV	exon4	c.C79T	p.P27S	VRAQTLQKQRRAPVGPRAPPPDEED	VRAQTLQKQRRASVGPRAPPPDEED	2.0	3.0	unscreened	-	3784_12:8377350-8377350 G>A_VRAQTLQKQRRASVGPRAPPPDEED
11:6024348-6024348 C>T	0.0	3784	MELANOMA	-	-	-	-	OR56A4	NM_001005179,p.G11R|uc010qzv.2,p.G11R|ENST00000330728,p.G11R	protein_coding	uc010qzv.2	nonsynonymous SNV	exon1	c.G31A	p.G11R	MMTVILKTLLGQIQGLSGNPHST	MMTVILKTLLRQIQGLSGNPHST	1.0	7.0	unscreened	-	3784_11:6024348-6024348 C>T_MMTVILKTLLRQIQGLSGNPHST
3:56330067-56330067 C>T	0.0	3784	MELANOMA	-	-	-	-	ERC2	uc003dhr.1,p.E352K|ENST00000288221,p.E352K|NM_015576,p.E352K|uc021wzo.1,p.E352K|ENST00000460849,p.E352K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wzo.1	nonsynonymous SNV	exon2	c.G1054A	p.E352K	SHLEVILDQKEKENIHLREELHRRS	SHLEVILDQKEKKNIHLREELHRRS	2.0	3.0	unscreened	-	3784_3:56330067-56330067 C>T_SHLEVILDQKEKKNIHLREELHRRS
3:46399836-46399836 G>A	0.0	3784	MELANOMA	-	-	-	-	CCR2	uc003cpn.4,p.G273D|uc003cpm.4,p.G273D|uc021wxa.1,p.G273D|ENST00000400888,p.G273D|ENST00000292301,p.G273D|NM_001123041,p.G273D|ENST00000445132,p.G273D|NM_001123396,p.G273D	protein_coding, processed_transcript	uc021wxa.1	nonsynonymous SNV	exon1	c.G818A	p.G273D	IVILLNTFQEFFGLSNCESTSQLDQ	IVILLNTFQEFFDLSNCESTSQLDQ	4.0	3.0	unscreened	-	3784_3:46399836-46399836 G>A_IVILLNTFQEFFDLSNCESTSQLDQ
3:69988294-69988294 C>T	1.0	3784	MELANOMA	-	-	-	1	MITF	ENST00000478490,p.P103S	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000478490	nonsynonymous SNV	exon3	c.C307T	p.P103S	KFEEQNRAESECPDG	KFEEQNRAESECSDG	10.0	2.0	unscreened	-	3784_3:69988294-69988294 C>T_KFEEQNRAESECSDG
14:101200646-101200646 G>A	0.0	3784	MELANOMA	-	-	-	-	DLK1	ENST00000341267,p.G189R|ENST00000331224,p.G189R|uc001yhs.4,p.G189R|NM_003836,p.G189R|uc001yhu.4,p.G189R	retained_intron, protein_coding	uc001yhu.4	nonsynonymous SNV	exon5	c.G565A	p.G189R	NPCENDGVCTDIGGDFRCRCPAGFI	NPCENDGVCTDIRGDFRCRCPAGFI	1.0	6.0	unscreened	-	3784_14:101200646-101200646 G>A_NPCENDGVCTDIRGDFRCRCPAGFI
20:6759539-6759539 C>T	0.0	3784	MELANOMA	-	-	-	-	BMP2	ENST00000378827,p.P332S|uc002wmu.1,p.P332S|NM_001200,p.P332S	protein_coding	uc002wmu.1	nonsynonymous SNV	exon3	c.C994T	p.P332S	YHAFYCHGECPFPLADHLNSTNHAI	YHAFYCHGECPFSLADHLNSTNHAI	3.0	7.0	unscreened	-	3784_20:6759539-6759539 C>T_YHAFYCHGECPFSLADHLNSTNHAI
16:78011551-78011551 G>A	0.0	3784	MELANOMA	-	-	ID=COSM135725;OCCURENCE=1(skin)	-	VAT1L	NM_020927,p.G407R|uc002ffg.1,p.G407R|ENST00000302536,p.G407R	protein_coding, processed_transcript	uc002ffg.1	nonsynonymous SNV	exon9	c.G1219A	p.G407R	TSEAGEEEEDHEGDSENKERMPFIQ	TSEAGEEEEDHERDSENKERMPFIQ	2.0	8.0	unscreened	-	3784_16:78011551-78011551 G>A_TSEAGEEEEDHERDSENKERMPFIQ
5:41142988-41142988 C>T	0.0	3784	MELANOMA	-	-	-	-	C6	uc003jmk.3,p.G915E|ENST00000337836,p.G915E|uc003jml.2,p.G915E|NM_001115131,p.G915E|NM_000065,p.G915E|ENST00000263413,p.G915E	retained_intron, protein_coding, processed_transcript	uc003jml.2	nonsynonymous SNV	exon18	c.G2744A	p.G915E	STSEKTLNICEVGTIRCANRKMEIL	STSEKTLNICEVETIRCANRKMEIL	1.0	4.0	unscreened	-	3784_5:41142988-41142988 C>T_STSEKTLNICEVETIRCANRKMEIL
19:38937178-38937178 C>T	0.0	3784	MELANOMA	-	-	-	-	RYR1	ENST00000360985,p.S233F|ENST00000355481,p.S233F|NM_000540,p.S233F|uc002oiu.3,p.S233F|uc002oit.3,p.S233F|NM_001042723,p.S233F|ENST00000359596,p.S233F	retained_intron, protein_coding, nonsense_mediated_decay	uc002oiu.3	nonsynonymous SNV	exon8	c.C698T	p.S233F	LFHGHMDECLTISPADSDDQRRLVY	LFHGHMDECLTIFPADSDDQRRLVY	4.0	4.0	unscreened	-	3784_19:38937178-38937178 C>T_LFHGHMDECLTIFPADSDDQRRLVY
20:44515491-44515491 C>T	0.0	3784	MELANOMA	-	-	-	-	SPATA25	ENST00000372519,p.G117S|uc002xqf.3,p.G117S|NM_080608,p.G117S	protein_coding	uc002xqf.3	nonsynonymous SNV	exon2	c.G349A	p.G117S	DNGYSRSRAPDLGGPSRPRPLMLCG	DNGYSRSRAPDLSGPSRPRPLMLCG	4.0	5.0	unscreened	-	3784_20:44515491-44515491 C>T_DNGYSRSRAPDLSGPSRPRPLMLCG
3:38835485-38835485 C>T	0.0	3784	MELANOMA	-	-	-	-	SCN10A	NM_001293306,p.G6E|uc003ciq.3,p.G6E|NM_006514,p.G6E|NM_001293307,p.G6E|ENST00000449082,p.G6E	protein_coding	uc003ciq.3	nonsynonymous SNV	exon1	c.G17A	p.G6E	MEFPIGSLETNNFRRFTP	MEFPIESLETNNFRRFTP	1.0	6.0	unscreened	-	3784_3:38835485-38835485 C>T_MEFPIESLETNNFRRFTP
20:42815327-42815327 C>T	0.0	3784	MELANOMA	-	-	-	-	JPH2	NM_020433,p.D7N|NM_175913,p.D7N|ENST00000342272,p.D7N|ENST00000372980,p.D7N|uc002xli.1,p.D7N|uc002xlj.3,p.D7N	protein_coding	uc002xlj.3	nonsynonymous SNV	exon1	c.G19A	p.D7N	MSGGRFDFDDGGAYCGGWE	MSGGRFNFDDGGAYCGGWE	1.0	3.0	unscreened	-	3784_20:42815327-42815327 C>T_MSGGRFNFDDGGAYCGGWE
12:55356321-55356321 G>A	0.0	3784	MELANOMA	-	-	-	-	TESPA1	ENST00000449076,p.S454F|NM_001261844,p.S316F|uc001sgl.4,p.S316F|ENST00000531122,p.S316F|ENST00000532804,p.S316F|uc010spd.2,p.S454F|NM_001136030,p.S454F|ENST00000528240,p.S54F|uc010spc.2,p.S316F|NM_001098815,p.S454F|ENST00000524622,p.S316F|uc001sgm.4,p.S201F|uc001sgn.4,p.S454F|ENST00000316577,p.S454F|uc010spb.2,p.S201F|NM_014796,p.S316F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010spd.2	nonsynonymous SNV	exon9	c.C1361T	p.S454F	LFQKNLMGRKVKSLDLSITQQKWKQ	LFQKNLMGRKVKFLDLSITQQKWKQ	4.0	6.0	unscreened	-	3784_12:55356321-55356321 G>A_LFQKNLMGRKVKFLDLSITQQKWKQ
11:55927697-55927697 C>T	0.0	3784	MELANOMA	-	-	-	-	OR8K5	uc010rja.2,p.V33I|NM_001004058,p.V33I|ENST00000313447,p.V33I	protein_coding	uc010rja.2	nonsynonymous SNV	exon1	c.G97A	p.V33I	PELQIPLFGVFLVIYLITVVGNLTM	PELQIPLFGVFLIIYLITVVGNLTM	1.0	6.0	unscreened	-	3784_11:55927697-55927697 C>T_PELQIPLFGVFLIIYLITVVGNLTM
12:130832683-130832683 G>A	0.0	3784	MELANOMA	-	-	ID=COSM936979;OCCURENCE=2(endometrium)	-	PIWIL1	NM_004764,p.R230Q|uc001uik.3,p.R230Q|ENST00000540672,p.R91Q|ENST00000245255,p.R230Q|uc001uij.2,p.R230Q|NM_001190971,p.R230Q	protein_coding, processed_transcript	uc001uik.3	nonsynonymous SNV	exon7	c.G689A	p.R230Q	RLLKIMNLQQIGRNYYNPNDPIDIP	RLLKIMNLQQIGQNYYNPNDPIDIP	1.0	5.0	unscreened	-	3784_12:130832683-130832683 G>A_RLLKIMNLQQIGQNYYNPNDPIDIP
9:137775148-137775148 G>A	0.0	3784	MELANOMA	-	-	-	-	FCN2	uc004cfg.1,p.G72E|NM_004108,p.G72E|ENST00000291744,p.G72E	protein_coding	uc004cfg.1	nonsynonymous SNV	exon3	c.G215A	p.G72E	GPKGEAGTNGKRGERGPPGPPGKAG	GPKGEAGTNGKREERGPPGPPGKAG	1.0	8.0	unscreened	-	3784_9:137775148-137775148 G>A_GPKGEAGTNGKREERGPPGPPGKAG
17:7612709-7612709 G>A	0.0	3784	MELANOMA	-	-	-	-	EFNB3	ENST00000226091,p.G280R|NM_001406,p.G280R|uc002gis.3,p.G280R	protein_coding	uc002gis.3	nonsynonymous SNV	exon5	c.G838A	p.G280R	SFGRGGSLGLGGGGGMGPREAEPGE	SFGRGGSLGLGGRGGMGPREAEPGE	2.0	8.0	unscreened	-	3784_17:7612709-7612709 G>A_SFGRGGSLGLGGRGGMGPREAEPGE
11:72946232-72946232 G>A	0.0	3784	MELANOMA	-	-	-	-	P2RY2	ENST00000393596,p.R343K|NM_176071,p.R343K|NM_002564,p.R343K|uc021qna.1,p.R343K|ENST00000311131,p.R343K|uc001otl.4,p.R343K|ENST00000393597,p.R343K|uc001otk.4,p.R343K|uc001otj.4,p.R343K|NM_176072,p.R343K	protein_coding	uc021qna.1	nonsynonymous SNV	exon1	c.G1028A	p.R343K	PARRRLGLRRSDRTDMQRIEDVLGS	PARRRLGLRRSDKTDMQRIEDVLGS	4.0	4.0	unscreened	-	3784_11:72946232-72946232 G>A_PARRRLGLRRSDKTDMQRIEDVLGS
12:56231639-56231639 G>A	0.0	3784	MELANOMA	-	-	-	-	MMP19	NM_001272101,p.S303L|ENST00000409200,p.S303L|uc010spw.3,p.S303L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010spw.3	nonsynonymous SNV	exon6	c.C908T	p.S303L	GCCCLLASNTMDSLL	GCCCLLASNTMDLLL	6.0	4.0	unscreened	-	3784_12:56231639-56231639 G>A_GCCCLLASNTMDLLL
12:52986726-52986726 C>T	0.0	3784	MELANOMA	0.0005	-	-	-	KRT72	ENST00000537672,p.E218K|ENST00000398066,p.E30K|uc010snt.1,p.E30K|ENST00000354310,p.E218K|uc010sns.1,p.E218K|NM_080747,p.E218K|uc001saq.2,p.E218K|ENST00000293745,p.E218K|NM_001146225,p.E218K|NM_001146226,p.E218K|uc001sar.2,p.E218K	protein_coding, nonsense_mediated_decay	uc010snt.1	nonsynonymous SNV	exon4	c.G88A	p.E30K	DLVEDYKKRYEVEINRRTAAENEFV	DLVEDYKKRYEVKINRRTAAENEFV	1.0	7.0	unscreened	-	3784_12:52986726-52986726 C>T_DLVEDYKKRYEVKINRRTAAENEFV
4:88533946-88533946 C>T	0.0	3784	MELANOMA	-	-	-	-	DSPP	NM_014208,p.S203F|ENST00000399271,p.S203F|ENST00000282478,p.S203F|uc003hqu.3,p.S203F	protein_coding	uc003hqu.3	nonsynonymous SNV	exon4	c.C608T	p.S203F	NSTDNEDEIIENSCRNEGNTSEITP	NSTDNEDEIIENFCRNEGNTSEITP	1.0	4.0	unscreened	-	3784_4:88533946-88533946 C>T_NSTDNEDEIIENFCRNEGNTSEITP
17:6683606-6683606 T>A	0.0	3784	MELANOMA	-	-	-	-	FBXO39	NM_153230,p.V140E|uc010vtg.2,p.V140E|ENST00000321535,p.V140E	protein_coding, nonsense_mediated_decay	uc010vtg.2	nonsynonymous SNV	exon2	c.T419A	p.V140E	SLSIQYLELDRLVWRNSIRSSFISS	SLSIQYLELDRLEWRNSIRSSFISS	1.0	7.0	unscreened	-	3784_17:6683606-6683606 T>A_SLSIQYLELDRLEWRNSIRSSFISS
12:53189528-53189528 C>T	0.0	3784	MELANOMA	-	-	-	-	KRT3	NM_057088,p.G100D|uc001say.3,p.G100D|ENST00000309505,p.G100D|ENST00000417996,p.G100D	protein_coding	uc001say.3	nonsynonymous SNV	exon1	c.G299A	p.G100D	AFAGGYGGGFGSGYGGGFGGGFGGG	AFAGGYGGGFGSDYGGGFGGGFGGG	1.0	5.0	unscreened	-	3784_12:53189528-53189528 C>T_AFAGGYGGGFGSDYGGGFGGGFGGG
1:119427393-119427393 G>A	0.0	3784	MELANOMA	-	-	-	-	TBX15	ENST00000449873,p.P319S|uc009whj.1,p.P309S|ENST00000369429,p.P591S|ENST00000207157,p.P485S|uc001ehl.1,p.P485S|NM_152380,p.P485S	protein_coding	uc009whj.1	nonsynonymous SNV	exon3	c.C925T	p.P309S	TNTCDGRQYGAVPGSSSQMSVHMV	TNTCDGRQYGAVSGSSSQMSVHMV	4.0	8.0	unscreened	-	3784_1:119427393-119427393 G>A_TNTCDGRQYGAVSGSSSQMSVHMV
2:179610833-179610833 C>T	0.0	3784	MELANOMA	-	-	-	-	TTN	ENST00000360870,p.E5432K|NM_133379,p.E5432K|uc002unb.3,p.E5432K	retained_intron, protein_coding	uc002unb.3	nonsynonymous SNV	exon46	c.G16294A	p.E5432K	IEPDNIKYVISEEKGSHTLKIRNVC	IEPDNIKYVISEKKGSHTLKIRNVC	3.0	7.0	unscreened	-	3784_2:179610833-179610833 C>T_IEPDNIKYVISEKKGSHTLKIRNVC
17:76501416-76501416 C>T	0.0	3784	MELANOMA	-	-	-	-	DNAH17	ENST00000585328,p.E1636K|uc010dhp.2,p.E1639K|ENST00000389840,p.E1635K|NM_173628,p.E1639K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dhp.2	nonsynonymous SNV	exon31	c.G4915A	p.E1639K	LKVGLGMYSKEDEYMVFDQECDLSG	LKVGLGMYSKEDKYMVFDQECDLSG	2.0	5.0	unscreened	-	3784_17:76501416-76501416 C>T_LKVGLGMYSKEDKYMVFDQECDLSG
19:22966817-22966817 A>G	0.0	3784	MELANOMA	-	-	-	-	ZNF99	NM_001080409,p.M1T|ENST00000596209,p.M1T|uc021urt.1,p.M1T	protein_coding	uc021urt.1	nonsynonymous SNV	exon1	c.T2C	p.M1T	MGSLTFWDVTIEF	TGSLTFWDVTIEF	1.0	3.0	unscreened	-	3784_19:22966817-22966817 A>G_TGSLTFWDVTIEF
2:215843590-215843590 C>T	0.0	3784	MELANOMA	-	-	ID=COSM1016106;OCCURENCE=1(endometrium)	-	ABCA12	ENST00000389661,p.D1321N|ENST00000272895,p.D1639N|NM_173076,p.D1639N|NM_015657,p.D1321N|uc010zjn.2,p.D566N|uc002vew.3,p.D1639N|uc002vev.3,p.D1321N	protein_coding	uc010zjn.2	nonsynonymous SNV	exon34	c.G1696A	p.D566N	VSGAYLSLLRALDNGMGDLNIGCYG	VSGAYLSLLRALNNGMGDLNIGCYG	3.0	7.0	unscreened	-	3784_2:215843590-215843590 C>T_VSGAYLSLLRALNNGMGDLNIGCYG
2:138330037-138330037 G>A	0.0	3784	MELANOMA	-	-	-	-	THSD7B	ENST00000413152,p.E1084K|ENST00000409968,p.E1112K|ENST00000272643,p.E1115K	retained_intron, protein_coding, processed_transcript	ENST00000413152	nonsynonymous SNV	exon17	c.G3250A	p.E1084K	GGAVDSNLCNQDEIPPETQSCSLMC	GGAVDSNLCNQDKIPPETQSCSLMC	1.0	7.0	unscreened	-	3784_2:138330037-138330037 G>A_GGAVDSNLCNQDKIPPETQSCSLMC
10:21415021-21415021 C>T	0.0	3784	MELANOMA	-	-	-	-	C10orf113	NM_001010896,p.G67S|ENST00000534331,p.G67S|uc001iqm.3,p.G67S|ENST00000377118,p.G57S	protein_coding	uc001iqm.3	nonsynonymous SNV	exon2	c.G199A	p.G67S	NRPGKAERRAEKGLRPPRKLVGETR	NRPGKAERRAEKSLRPPRKLVGETR	1.0	6.0	unscreened	-	3784_10:21415021-21415021 C>T_NRPGKAERRAEKSLRPPRKLVGETR
21:39762946-39762946 C>T	0.0	3784	MELANOMA	-	-	-	1	ERG	uc021wjd.1,p.G304E|NM_001243432,p.G304E	retained_intron, protein_coding, processed_transcript	uc021wjd.1	nonsynonymous SNV	exon11	c.G911A	p.G304E	DQRPQLDPYQILGPTSSRLANPGWT	DQRPQLDPYQILEPTSSRLANPGWT	5.0	5.0	unscreened	-	3784_21:39762946-39762946 C>T_DQRPQLDPYQILEPTSSRLANPGWT
2:218999657-218999657 G>A	0.0	3784	MELANOMA	-	-	-	-	CXCR2	ENST00000454148,p.E45K|NM_001168298,p.E45K|ENST00000415392,p.E45K|ENST00000318507,p.E45K|ENST00000428565,p.E45K|NM_001557,p.E45K|ENST00000453237,p.E45K|uc002vha.2,p.E45K|uc002vgz.2,p.E45K|uc002vhb.2,p.E45K|uc021vwp.1,p.E45K	protein_coding	uc021vwp.1	nonsynonymous SNV	exon1	c.G133A	p.E45K	LLDAAPCEPESLEINKYFVVIIYAL	LLDAAPCEPESLKINKYFVVIIYAL	1.0	4.0	unscreened	-	3784_2:218999657-218999657 G>A_LLDAAPCEPESLKINKYFVVIIYAL
2:179422943-179422943 C>T	0.0	3784	MELANOMA	-	-	-	-	TTN	NM_133432,p.M20106I|ENST00000589042,p.M29046I|NM_001256850,p.M27405I|uc021vta.2,p.M20106I|NM_003319,p.M19981I|uc021vtb.2,p.M19981I|ENST00000359218,p.M20106I|uc031rqc.1,p.M29046I|ENST00000591111,p.M27405I|ENST00000342175,p.M20173I|NM_001267550,p.M29046I|uc021vsy.2,p.M26478I|ENST00000460472,p.M19981I|ENST00000342992,p.M26478I|NM_133378,p.M26478I|NM_133437,p.M20173I|uc031rqd.1,p.M27405I|uc021vsz.2,p.M20173I	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon278	c.G82215A	p.M27405I	LIKEQLEPPEIDMKNFPSHTVYVRA	LIKEQLEPPEIDIKNFPSHTVYVRA	3.0	7.0	unscreened	-	3784_2:179422943-179422943 C>T_LIKEQLEPPEIDIKNFPSHTVYVRA
3:137843644-137843644 C>T	0.0	3784	MELANOMA	-	-	-	-	A4GNT	NM_016161,p.G162D|uc003ers.2,p.G162D|ENST00000236709,p.G162D	protein_coding	uc003ers.2	nonsynonymous SNV	exon3	c.G485A	p.G162D	SDASRLAIIWKYGGIYMDTDVISIR	SDASRLAIIWKYDGIYMDTDVISIR	1.0	5.0	unscreened	-	3784_3:137843644-137843644 C>T_SDASRLAIIWKYDGIYMDTDVISIR
9:95077832-95077832 G>A	1.0	3784	MELANOMA	-	-	-	-	NOL8	ENST00000544867,p.R359C|ENST00000545558,p.R359C|ENST00000542053,p.R291C|NM_017948,p.R359C|ENST00000433029,p.R359C|ENST00000358855,p.R291C|uc022bjx.1,p.R359C|ENST00000432670,p.R359C|NM_001256394,p.R291C|uc022bjw.1,p.R291C|ENST00000535387,p.R359C|ENST00000442668,p.R359C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022bjx.1	nonsynonymous SNV	exon7	c.C1075T	p.R359C	KLHSLIGLGIKNRVSCHDSDDDIMR	KLHSLIGLGIKNCVSCHDSDDDIMR	9.0	6.0	-	-	3784_9:95077832-95077832 G>A_KLHSLIGLGIKNCVSCHDSDDDIMR
5:140203321-140203321 G>A	0.0	3784	MELANOMA	-	-	-	-	PCDHA5	ENST00000529619,p.G654E|ENST00000529859,p.G654E|uc003lhj.1,p.G654E|uc003lhk.1,p.G654E|uc003lhl.2,p.G654E|NM_018908,p.G654E|NM_031501,p.G654E|ENST00000378126,p.G654E	protein_coding	uc003lhl.2	nonsynonymous SNV	exon1	c.G1961A	p.G654E	PRHRLLVLVKDHGEPPLTATATVLV	PRHRLLVLVKDHEEPPLTATATVLV	1.0	5.0	unscreened	-	3784_5:140203321-140203321 G>A_PRHRLLVLVKDHEEPPLTATATVLV
1:114354821-114354821 C>T	0.0	3784	MELANOMA	-	-	-	-	RSBN1	NM_018364,p.G72R|ENST00000261441,p.G72R|uc001edq.3,p.G72R	protein_coding, processed_transcript, nonsense_mediated_decay	uc001edq.3	nonsynonymous SNV	exon1	c.G214A	p.G72R	RAVAAQEEPDKEGKEKPHAGVSPRG	RAVAAQEEPDKERKEKPHAGVSPRG	7.0	4.0	unscreened	-	3784_1:114354821-114354821 C>T_RAVAAQEEPDKERKEKPHAGVSPRG
21:39762946-39762946 C>T	0.0	3784	MELANOMA	-	-	-	1	ERG	ENST00000398919,p.G304E|NM_001243428,p.G304E|uc010gnw.3,p.G304E|ENST00000398907,p.G274E|ENST00000398897,p.G181E|NM_001136154,p.G304E|NM_004449,p.G280E|uc002yxb.3,p.G280E|ENST00000417133,p.G304E|uc002yxa.3,p.G297E|ENST00000398910,p.G281E|uc010gnv.3,p.G181E|uc011ael.2,p.G304E|ENST00000398911,p.G280E|NM_182918,p.G297E|ENST00000398905,p.G273E|ENST00000453032,p.G205E|ENST00000288319,p.G297E|NM_001243429,p.G181E|ENST00000442448,p.G280E|uc011aek.2,p.G205E|NM_001136155,p.G205E|uc010gnx.3,p.G280E	retained_intron, protein_coding, processed_transcript	uc011ael.2	nonsynonymous SNV	exon11	c.G911A	p.G304E	DQRPQLDPYQILGPTSSRLANPGSG	DQRPQLDPYQILEPTSSRLANPGSG	5.0	5.0	unscreened	-	3784_21:39762946-39762946 C>T_DQRPQLDPYQILEPTSSRLANPGSG
19:51379728-51379728 G>A	0.0	3784	MELANOMA	-	-	-	1	KLK2	ENST00000597727,p.G16E|ENST00000599121,p.G16E|ENST00000595316,p.G16E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay	ENST00000599121	nonsynonymous SNV	exon2	c.G47A	p.G16E	LVLSIALSVGCTGIARSGWVGTTCL	LVLSIALSVGCTEIARSGWVGTTCL	1.0	6.0	unscreened	-	3784_19:51379728-51379728 G>A_LVLSIALSVGCTEIARSGWVGTTCL
20:43927101-43927101 G>A	0.0	3784	MELANOMA	-	-	-	-	MATN4	uc002xno.2,p.P338S|ENST00000372751,p.P230S|uc002xnp.2,p.P297S|ENST00000537548,p.P379S|uc002xnn.2,p.P379S|ENST00000372756,p.P379S|ENST00000353917,p.P297S|NM_030590,p.P338S|NM_030592,p.P297S|ENST00000372754,p.P420S|uc010zwr.1,p.P327S|NM_003833,p.P379S|ENST00000372753,p.P230S|ENST00000360607,p.P338S|ENST00000342716,p.P379S|uc002xnr.1,p.P379S	protein_coding	uc010zwr.1	nonsynonymous SNV	exon6	c.C979T	p.P327S	FVNQIVDFLDVSPEGTRVGLVQFSS	FVNQIVDFLDVSSEGTRVGLVQFSS	1.0	6.0	unscreened	-	3784_20:43927101-43927101 G>A_FVNQIVDFLDVSSEGTRVGLVQFSS
5:127686598-127686598 C>T	0.0	3784	MELANOMA	-	-	-	-	FBN2	ENST00000508053,p.G925E|ENST00000262464,p.G925E|uc003kuv.2,p.G892E|uc003kuu.3,p.G925E|NM_001999,p.G925E|ENST00000508989,p.G892E	retained_intron, protein_coding, processed_transcript	uc003kuv.2	nonsynonymous SNV	exon20	c.G2675A	p.G892E	GATLKSECCATLGAAWGSPCERCEL	GATLKSECCATLEAAWGSPCERCEL	4.0	7.0	unscreened	-	3784_5:127686598-127686598 C>T_GATLKSECCATLEAAWGSPCERCEL
2:179577955-179577955 C>T	0.0	3784	MELANOMA	-	-	-	-	TTN	NM_001256850,p.G8652E|ENST00000591111,p.G8652E|uc002umz.1,p.G4386E|ENST00000342992,p.G7725E|NM_133378,p.G7725E|uc031rqc.1,p.G8969E|uc021vsy.2,p.G7725E|NM_001267550,p.G8969E|uc031rqd.1,p.G8652E|ENST00000589042,p.G8969E	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon91	c.G25955A	p.G8652E	VSWFHEGNEISSGRKYQTTLTDNTC	VSWFHEGNEISSERKYQTTLTDNTC	3.0	7.0	unscreened	-	3784_2:179577955-179577955 C>T_VSWFHEGNEISSERKYQTTLTDNTC
5:129019892-129019892 G>A	0.0	3784	MELANOMA	-	-	-	-	ADAMTS19	uc003kvb.1,p.S909N|NM_133638,p.S909N|ENST00000274487,p.S909N	protein_coding, processed_transcript, nonsense_mediated_decay	uc003kvb.1	nonsynonymous SNV	exon18	c.G2726A	p.S909N	YTIPSDPLPENQSSKAPEPLFMWTH	YTIPSDPLPENQNSKAPEPLFMWTH	2.0	4.0	unscreened	-	3784_5:129019892-129019892 G>A_YTIPSDPLPENQNSKAPEPLFMWTH
19:14761930-14761930 G>A	0.0	3784	MELANOMA	-	-	-	-	EMR3	NM_001289159,p.R96C|NM_032571,p.R222C|ENST00000443157,p.R96C|uc010dzp.3,p.R170C|NM_001289158,p.R170C|uc010xnv.2,p.R96C|ENST00000344373,p.R170C|ENST00000253673,p.R222C|uc002mzi.4,p.R222C	protein_coding	uc010xnv.2	nonsynonymous SNV	exon4	c.C286T	p.R96C	FNLNVQMNSMDIRCSDIIQGDTQGP	FNLNVQMNSMDICCSDIIQGDTQGP	2.0	6.0	unscreened	-	3784_19:14761930-14761930 G>A_FNLNVQMNSMDICCSDIIQGDTQGP
2:227968768-227968768 C>T	0.0	3784	MELANOMA	-	-	-	-	COL4A4	ENST00000396625,p.G246S|ENST00000329662,p.G246S|uc021vxr.1,p.G246S|NM_000092,p.G246S|uc021vxs.1,p.G246S	protein_coding	uc021vxs.1	nonsynonymous SNV	exon13	c.G736A	p.G246S	PGVGVKGQMGDPGEVGQQGSPGPTL	PGVGVKGQMGDPSEVGQQGSPGPTL	4.0	4.0	unscreened	-	3784_2:227968768-227968768 C>T_PGVGVKGQMGDPSEVGQQGSPGPTL
3:48621376-48621376 C>T	1.0	3784	MELANOMA	-	-	ID=COSM419967;OCCURENCE=1(urinary_tract)	-	COL7A1	ENST00000328333,p.G1412E|NM_000094,p.G1412E|ENST00000454817,p.G1412E|uc003ctz.2,p.G1412E	retained_intron, protein_coding, processed_transcript	uc003ctz.2	nonsynonymous SNV	exon38	c.G4235A	p.G1412E	GDKGDRGERGPPGPGEGGIAPGEPG	GDKGDRGERGPPEPGEGGIAPGEPG	5.0	7.0	-	-	3784_3:48621376-48621376 C>T_GDKGDRGERGPPEPGEGGIAPGEPG
14:24600810-24600810 C>T	0.0	3784	MELANOMA	-	-	-	-	FITM1	NM_203402,p.A13V|uc001wmf.2,p.A13V|ENST00000267426,p.A13V	protein_coding	uc001wmf.2	nonsynonymous SNV	exon1	c.C38T	p.A13V	MERGPVVGAGLGAGARIQALLGCLL	MERGPVVGAGLGVGARIQALLGCLL	1.0	5.0	unscreened	-	3784_14:24600810-24600810 C>T_MERGPVVGAGLGVGARIQALLGCLL
4:138449716-138449716 C>T	1.0	3784	MELANOMA	-	-	-	-	PCDH18	ENST00000511115,p.D66N|uc003ihg.4,p.D665N|ENST00000412923,p.D885N|ENST00000510305,p.D97N|uc011cgz.2,p.D97N|uc003ihe.4,p.D886N|NM_019035,p.D886N|ENST00000344876,p.D886N|uc011cha.2,p.D66N|ENST00000507846,p.D665N|NM_001300828,p.D885N|uc003ihf.4,p.D878N	protein_coding	uc011cha.2	nonsynonymous SNV	exon3	c.G196A	p.D66N	GRGDSEAGDSDYDLGRDSPIDRLLG	GRGDSEAGDSDYNLGRDSPIDRLLG	7.0	6.0	-	-	3784_4:138449716-138449716 C>T_GRGDSEAGDSDYNLGRDSPIDRLLG
2:227968767-227968767 C>A	0.0	3784	MELANOMA	-	-	ID=COSM3962464;OCCURENCE=1(lung)	-	COL4A4	uc021vxr.1,p.G246V|ENST00000396625,p.G246V|uc021vxs.1,p.G246V|NM_000092,p.G246V|ENST00000329662,p.G246V	protein_coding	uc021vxs.1	nonsynonymous SNV	exon13	c.G737T	p.G246V	PGVGVKGQMGDPGEVGQQGSPGPTL	PGVGVKGQMGDPVEVGQQGSPGPTL	4.0	4.0	unscreened	-	3784_2:227968767-227968767 C>A_PGVGVKGQMGDPVEVGQQGSPGPTL
17:38910675-38910675 C>T	0.0	3784	MELANOMA	-	-	-	-	KRT25	NM_181534,p.D159N|uc002hve.3,p.D159N|ENST00000312150,p.D159N	protein_coding	uc002hve.3	nonsynonymous SNV	exon2	c.G475A	p.D159N	STTSNANAVLQIDNARLTADDFRLK	STTSNANAVLQINNARLTADDFRLK	1.0	6.0	unscreened	-	3784_17:38910675-38910675 C>T_STTSNANAVLQINNARLTADDFRLK
19:36357419-36357419 G>A	0.0	3784	MELANOMA	-	-	-	-	KIRREL2	NM_199179,p.G578E|uc002obz.4,p.G628E|ENST00000347900,p.G578E|NM_032123,p.G628E|ENST00000262625,p.G628E|uc002oca.4,p.G578E	protein_coding	uc002oca.4	nonsynonymous SNV	exon15	c.G1733A	p.G578E	DSRVTSFQWKSPGISNLP	DSRVTSFQWKSPEISNLP	1.0	6.0	unscreened	-	3784_19:36357419-36357419 G>A_DSRVTSFQWKSPEISNLP
7:100001358-100001358 C>T	0.0	3784	MELANOMA	-	-	-	-	ZCWPW1	uc011kjq.2,p.E337K|ENST00000324725,p.E337K|uc003uut.4,p.E457K|NM_017984,p.E457K|NM_001258008,p.E458K|uc003uur.3,p.E337K|ENST00000360951,p.E458K|uc003uus.3,p.E337K|ENST00000490721,p.E337K|ENST00000471336,p.E180K|uc003uuu.1,p.E458K|uc011kjr.3,p.E458K|ENST00000398027,p.E457K	retained_intron, protein_coding	uc011kjr.3	nonsynonymous SNV	exon15	c.G1372A	p.E458K	GLNSPGSCLEKKEKEEELEKEEGEK	GLNSPGSCLEKKKKEEELEKEEGEK	4.0	3.0	unscreened	-	3784_7:100001358-100001358 C>T_GLNSPGSCLEKKKKEEELEKEEGEK
14:88651911-88651911 C>T	0.0	3784	MELANOMA	-	-	-	-	KCNK10	ENST00000312350,p.E534K|uc001xwm.3,p.E534K|NM_021161,p.E529K|uc001xwo.3,p.E529K|uc001xwn.3,p.E534K|NM_138318,p.E534K|ENST00000340700,p.E529K|NM_138317,p.E534K|ENST00000319231,p.E534K	protein_coding	uc001xwo.3	nonsynonymous SNV	exon7	c.G1585A	p.E529K	GMIPTDTKDREPENNSLLEDRN	GMIPTDTKDREPKNNSLLEDRN	1.0	5.0	unscreened	-	3784_14:88651911-88651911 C>T_GMIPTDTKDREPKNNSLLEDRN
11:56431171-56431171 G>A	0.0	3784	MELANOMA	-	-	-	-	OR5AR1	NM_001004730,p.E4K|uc010rjm.2,p.E4K|ENST00000302969,p.E4K	protein_coding	uc010rjm.2	nonsynonymous SNV	exon1	c.G10A	p.E4K	MDKENSSMVTEFIFMG	MDKKNSSMVTEFIFMG	1.0	6.0	unscreened	-	3784_11:56431171-56431171 G>A_MDKKNSSMVTEFIFMG
21:46900018-46900018 G>A	0.0	3784	MELANOMA	-	-	-	-	COL18A1	NM_030582,p.G629E|ENST00000355480,p.G629E|uc002zhi.3,p.G629E|ENST00000400337,p.G449E|ENST00000359759,p.G864E|NM_130445,p.G449E|uc002zhg.3,p.G449E	retained_intron, protein_coding, processed_transcript	uc002zhi.3	nonsynonymous SNV	exon10	c.G1886A	p.G629E	KGDPGVGERGPPGPQGPPGPPGPSF	KGDPGVGERGPPEPQGPPGPPGPSF	9.0	5.0	unscreened	-	3784_21:46900018-46900018 G>A_KGDPGVGERGPPEPQGPPGPPGPSF
17:51901223-51901223 G>A	0.0	3784	MELANOMA	0.0009	-	-	-	KIF2B	NM_032559,p.E277K|uc002iua.2,p.E277K|ENST00000268919,p.E277K	protein_coding	uc002iua.2	nonsynonymous SNV	exon1	c.G829A	p.E277K	CFDHAFDDKASNELVYQFTAQPLVE	CFDHAFDDKASNKLVYQFTAQPLVE	1.0	5.0	unscreened	-	3784_17:51901223-51901223 G>A_CFDHAFDDKASNKLVYQFTAQPLVE
4:155507532-155507532 C>T	0.0	3784	MELANOMA	-	-	-	-	FGA	NM_000508,p.G350E|ENST00000403106,p.G350E|NM_021871,p.G350E|ENST00000302053,p.G350E|uc003ioe.1,p.G350E|uc003iod.1,p.G350E	protein_coding	uc003ioe.1	nonsynonymous SNV	exon5	c.G1049A	p.G350E	SSGTGSTGNQNPGSPRPGSTGTWNP	SSGTGSTGNQNPESPRPGSTGTWNP	1.0	4.0	unscreened	-	3784_4:155507532-155507532 C>T_SSGTGSTGNQNPESPRPGSTGTWNP
20:33874474-33874474 C>T	0.0	3784	MELANOMA	-	-	-	-	FAM83C	NM_178468,p.G703D|ENST00000374408,p.G703D|uc002xcb.1,p.G358D|uc021wck.1,p.G703D	protein_coding	uc021wck.1	nonsynonymous SNV	exon4	c.G2108A	p.G703D	GARQGTEPGGPKGGHLNGGNSDLVR	GARQGTEPGGPKDGHLNGGNSDLVR	1.0	4.0	unscreened	-	3784_20:33874474-33874474 C>T_GARQGTEPGGPKDGHLNGGNSDLVR
5:180625189-180625189 C>T	0.0	3784	MELANOMA	-	-	-	-	TRIM7	uc003mmy.1,p.E132K|NM_203296,p.E132K|uc003mmz.1,p.E340K|NM_203297,p.E158K|NM_203294,p.E132K|uc003mmx.1,p.E132K|ENST00000422067,p.E132K|ENST00000361809,p.E132K|NM_203293,p.E340K|ENST00000393319,p.E158K|uc003mmv.1,p.E158K|ENST00000274773,p.E340K|NM_203295,p.E132K|uc003mmw.1,p.E132K|ENST00000393315,p.E132K	protein_coding, processed_transcript	uc003mmz.1	nonsynonymous SNV	exon6	c.G1018A	p.E340K	FKEDLRGELEKEEKVELTLDPDTAN	FKEDLRGELEKEKKVELTLDPDTAN	2.0	4.0	unscreened	-	3784_5:180625189-180625189 C>T_FKEDLRGELEKEKKVELTLDPDTAN
2:26676323-26676323 G>A	0.0	3784	MELANOMA	-	-	-	-	DRC1	ENST00000288710,p.E609K|uc002rhg.2,p.E609K|NM_145038,p.E609K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002rhg.2	nonsynonymous SNV	exon14	c.G1825A	p.E609K	EKEESLVEGEKEEEEETPPSPWVIH	EKEESLVEGEKEKEEETPPSPWVIH	1.0	4.0	unscreened	-	3784_2:26676323-26676323 G>A_EKEESLVEGEKEKEEETPPSPWVIH
17:10399767-10399767 C>T	0.0	3784	MELANOMA	-	-	ID=COSM1709856;OCCURENCE=1(skin)	-	MYH1	uc002gmo.3,p.E1586K|ENST00000226207,p.E1586K|NM_005963,p.E1586K	protein_coding	uc002gmo.3	nonsynonymous SNV	exon34	c.G4756A	p.E1586K	SEVDRKIAEKDEEIDQMKRNHIRIV	SEVDRKIAEKDEKIDQMKRNHIRIV	1.0	5.0	unscreened	-	3784_17:10399767-10399767 C>T_SEVDRKIAEKDEKIDQMKRNHIRIV
11:64601305-64601305 C>T	0.0	3784	MELANOMA	-	-	-	-	CDC42BPG	uc001obs.4,p.D824N|ENST00000342711,p.D824N|NM_017525,p.D824N	retained_intron, protein_coding, processed_transcript	uc001obs.4	nonsynonymous SNV	exon22	c.G2470A	p.D824N	LIPFLSFRSSEKDSAKDPGISGEAT	LIPFLSFRSSEKNSAKDPGISGEAT	3.0	4.0	unscreened	-	3784_11:64601305-64601305 C>T_LIPFLSFRSSEKNSAKDPGISGEAT
16:84449163-84449163 G>A	0.0	3784	MELANOMA	-	-	-	-	ATP2C2	NM_001291454,p.G46E|uc002fhz.3,p.G46E|uc002fhx.3,p.G197E|uc002fhy.3,p.G214E|uc010chj.3,p.G197E|ENST00000262429,p.G197E|NM_014861,p.G197E|NM_001286527,p.G197E|ENST00000416219,p.G197E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc010chj.3	nonsynonymous SNV	exon7	c.G590A	p.G197E	ELVPGDVVSLSIGDRIPADIRLTEV	ELVPGDVVSLSIEDRIPADIRLTEV	1.0	6.0	unscreened	-	3784_16:84449163-84449163 G>A_ELVPGDVVSLSIEDRIPADIRLTEV
12:13906624-13906624 C>T	0.0	3784	MELANOMA	-	-	-	-	GRIN2B	uc001rbt.2,p.D213N|ENST00000279593,p.D213N|NM_000834,p.D213N	protein_coding	uc001rbt.2	nonsynonymous SNV	exon3	c.G637A	p.D213N	EVLLLDMSLDDGDSKIQNQLKKLQS	EVLLLDMSLDDGNSKIQNQLKKLQS	1.0	5.0	unscreened	-	3784_12:13906624-13906624 C>T_EVLLLDMSLDDGNSKIQNQLKKLQS
19:9090409-9090409 C>T	0.0	3784	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.R469K|NM_024690,p.R469K|uc002mkp.3,p.R469K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.G1406A	p.R469K	PTLGFTTLDSKIRSPSQVSSSHPTR	PTLGFTTLDSKIKSPSQVSSSHPTR	1.0	5.0	unscreened	-	3784_19:9090409-9090409 C>T_PTLGFTTLDSKIKSPSQVSSSHPTR
4:20544117-20544117 G>A	1.0	3784	MELANOMA	-	-	ID=COSM1694187;OCCURENCE=1(skin)	-	SLIT2	uc003gps.1,p.G707E|ENST00000273739,p.G719E|ENST00000503823,p.G707E|NM_001289135,p.G711E|NM_004787,p.G715E|ENST00000503837,p.G711E|ENST00000504154,p.G715E|uc003gpr.1,p.G715E|NM_001289136,p.G707E	retained_intron, protein_coding, processed_transcript	uc003gps.1	nonsynonymous SNV	exon20	c.G2120A	p.G707E	QDVAIQDFTCDDGNDDNSCSPLSRC	QDVAIQDFTCDDENDDNSCSPLSRC	7.0	5.0	-	-	3784_4:20544117-20544117 G>A_QDVAIQDFTCDDENDDNSCSPLSRC
6:31850498-31850498 G>A	1.0	3795	MELANOMA	-	-	-	-	EHMT2	ENST00000375537,p.P1059S|uc011don.1,p.P1082S|NM_001289413,p.P1082S|NM_006709,p.P1059S|ENST00000375528,p.P1082S|uc003nya.1,p.P1025S|uc003nxy.1,p.P857S|uc003nxz.1,p.P1059S|ENST00000395728,p.P1116S|ENST00000375530,p.P1025S|NM_025256,p.P1025S|uc003nxx.1,p.P257S	retained_intron, protein_coding, processed_transcript	uc011don.1	nonsynonymous SNV	exon23	c.C3244T	p.P1082S	KMGWGVRALQTIPQGTFICEYVGEL	KMGWGVRALQTISQGTFICEYVGEL	9.0	3.0	-	-	3795_6:31850498-31850498 G>A_KMGWGVRALQTISQGTFICEYVGEL
16:24580388-24580388 C>T	1.0	3795	MELANOMA	-	-	-	-	RBBP6	uc002dmk.3,p.R626C|uc002dmi.3,p.R759C|uc010vcb.1,p.R660C|uc002dmh.3,p.R793C|ENST00000319715,p.R793C|ENST00000348022,p.R759C|ENST00000564314,p.R660C|NM_006910,p.R793C|NM_018703,p.R759C	retained_intron, protein_coding	uc010vcb.1	nonsynonymous SNV	exon15	c.C1978T	p.R660C	PNKRNVPQGETEREYFNRYREVPPP	PNKRNVPQGETECEYFNRYREVPPP	10.0	6.0	CD8	-	3795_16:24580388-24580388 C>T_PNKRNVPQGETECEYFNRYREVPPP
1:115256530-115256530 G>T	1.0	3795	MELANOMA	-	-	ID=COSM580;OCCURENCE=1(prostate),79(large_intestine),1(biliary_tract),2(urinary_tract),2(eye),1(kidney),2(liver),2(pancreas),2(breast),437(skin),2(endometrium),1(ovary),15(soft_tissue),5(autonomic_ganglia),2(cervix),71(haematopoietic_and_lymphoid_tissue),1(meninges),56(thyroid),18(lung),29(NS),4(bone),4(central_nervous_system),1(stomach)	1	NRAS	uc009wgu.3,p.Q61K|ENST00000369535,p.Q61K|NM_002524,p.Q61K	protein_coding	uc009wgu.3	nonsynonymous SNV	exon3	c.C181A	p.Q61K	ETCLLDILDTAGQEEYSAMRDQYMR	ETCLLDILDTAGKEEYSAMRDQYMR	9.0	8.0	CD8	-	3795_1:115256530-115256530 G>T_ETCLLDILDTAGKEEYSAMRDQYMR
2:128750881-128750881 G>A	1.0	3795	MELANOMA	-	-	-	-	SAP130	ENST00000357702,p.P479S|uc002tpq.1,p.P452S|NM_024545,p.P479S|NM_001145928,p.P479S|ENST00000259235,p.P479S|uc002tpp.2,p.P479S|ENST00000259234,p.P453S|uc010fmd.2,p.P479S|uc002tpn.2,p.P240S	protein_coding	uc010fmd.2	nonsynonymous SNV	exon12	c.C1435T	p.P479S	NPVAMETRSDNRPSVPVQFQYFLPT	NPVAMETRSDNRSSVPVQFQYFLPT	7.0	4.0	-	-	3795_2:128750881-128750881 G>A_NPVAMETRSDNRSSVPVQFQYFLPT
8:72951224-72951224 C>T	1.0	3795	MELANOMA	-	-	-	-	TRPA1	ENST00000523582,p.G576E|NM_007332,p.G724E|ENST00000262209,p.G724E|uc003xza.3,p.G724E	retained_intron, protein_coding, processed_transcript	uc003xza.3	nonsynonymous SNV	exon19	c.G2171A	p.G724E	LAYGFRAHMMNLGSYCLGLIPMTIL	LAYGFRAHMMNLESYCLGLIPMTIL	9.0	4.0	-	-	3795_8:72951224-72951224 C>T_LAYGFRAHMMNLESYCLGLIPMTIL
1:201104901-201104901 G>A	1.0	3795	MELANOMA	-	-	-	-	TMEM9	NM_001288565,p.P148S|NM_001288566,p.P148S|NM_001288564,p.P148S|NM_001288571,p.P173S|NM_016456,p.P148S|uc010ppo.2,p.P173S|ENST00000367333,p.P151S|NM_001288569,p.P148S|uc001gwa.3,p.P148S|NM_001288568,p.P148S|ENST00000367330,p.P148S|uc001gvz.3,p.P151S|uc001gvy.3,p.P148S|NM_001288570,p.P151S|uc001gvx.3,p.P148S|NM_001288567,p.P148S|ENST00000367334,p.P148S|ENST00000367329,p.P148S|ENST00000367332,p.P151S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ppo.2	nonsynonymous SNV	exon6	c.C517T	p.P173S	RSMAAAAASLGGPRANTVLERVEGA	RSMAAAAASLGGSRANTVLERVEGA	9.0	2.0	-	-	3795_1:201104901-201104901 G>A_RSMAAAAASLGGSRANTVLERVEGA
11:26581281-26581281 G>A	1.0	3795	MELANOMA	-	-	-	-	ANO3	uc001mqt.4,p.D468N|ENST00000525139,p.D452N|ENST00000256737,p.D468N|ENST00000531568,p.D322N|ENST00000537978,p.D452N|NM_031418,p.D468N|uc010rds.2,p.D307N|uc010rdt.2,p.D322N|uc010rdr.2,p.D452N	protein_coding, processed_transcript	uc010rdt.2	nonsynonymous SNV	exon11	c.G964A	p.D322N	DSCIYAKVTYLFDNGGTVFFAIFMA	DSCIYAKVTYLFNNGGTVFFAIFMA	8.0	9.0	-	-	3795_11:26581281-26581281 G>A_DSCIYAKVTYLFNNGGTVFFAIFMA
5:10254861-10254861 T>C	1.0	3795	MELANOMA	-	-	-	-	CCT5	uc003jeq.3,p.M81T|ENST00000280326,p.M81T|NM_012073,p.M81T|ENST00000503026,p.M60T|ENST00000515676,p.M43T|uc011cms.2,p.M43T	retained_intron, protein_coding, nonsense_mediated_decay	uc011cms.2	nonsynonymous SNV	exon3	c.T128C	p.M43T	TVTNDGATILSMMDVDHQIAKLMVE	TVTNDGATILSMTDVDHQIAKLMVE	10.0	10.0	-	-	3795_5:10254861-10254861 T>C_TVTNDGATILSMTDVDHQIAKLMVE
14:105177483-105177483 C>T	1.0	3795	MELANOMA	-	-	-	-	INF2	ENST00000252527,p.S261F|ENST00000330634,p.S793F|ENST00000392634,p.S793F|NM_001031714,p.S793F|uc001ypb.2,p.S793F|uc001ypc.2,p.S793F|NM_022489,p.S793F	retained_intron, protein_coding, nonsense_mediated_decay	uc001ypc.2	nonsynonymous SNV	exon15	c.C2378T	p.S793F	KISTLLKLTETKSQQNRVTLLHHVL	KISTLLKLTETKFQQNRVTLLHHVL	8.0	8.0	-	-	3795_14:105177483-105177483 C>T_KISTLLKLTETKFQQNRVTLLHHVL
10:61956380-61956380 C>T	0.0	3795	MELANOMA	-	-	-	-	ANK3	ENST00000373827,p.G559R|uc001jkz.4,p.G559R|uc001jlb.1,p.G94R|uc001jlc.1,p.G226R|NM_001204404,p.G548R|NM_020987,p.G565R|ENST00000280772,p.G565R|ENST00000503366,p.G548R|NM_001204403,p.G559R|uc001jky.3,p.G565R|uc010qih.2,p.G548R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qih.2	nonsynonymous SNV	exon15	c.G1642A	p.G548R	DHGASLSITTKKGFTPLHVAAKYGK	DHGASLSITTKKRFTPLHVAAKYGK	10.0	9.0	-	-	3795_10:61956380-61956380 C>T_DHGASLSITTKKRFTPLHVAAKYGK
X:141291221-141291221 C>T	1.0	3795	MELANOMA	-	-	-	-	MAGEC2	ENST00000247452,p.A185T|uc022cfj.1,p.A185T|uc004fbu.2,p.A185T|NM_016249,p.A185T	protein_coding	uc022cfj.1	nonsynonymous SNV	exon1	c.G553A	p.A185T	KYKDYFPVILKRAREFMELLFGLAL	KYKDYFPVILKRTREFMELLFGLAL	5.0	6.0	-	-	3795_X:141291221-141291221 C>T_KYKDYFPVILKRTREFMELLFGLAL
X:80001168-80001168 G>A	0.0	3795	MELANOMA	-	-	-	-	BRWD3	NM_153252,p.S164L|ENST00000373275,p.S164L|uc004edt.3,p.S164L	protein_coding, processed_transcript	uc004edt.3	nonsynonymous SNV	exon7	c.C491T	p.S164L	LTGCSRFGHIFPSSAYQHIKMHKRI	LTGCSRFGHIFPLSAYQHIKMHKRI	8.0	5.0	unscreened	-	3795_X:80001168-80001168 G>A_LTGCSRFGHIFPLSAYQHIKMHKRI
7:120935621-120935621 C>T	1.0	3795	MELANOMA	0.0005	-	ID=COSM274319;OCCURENCE=1(large_intestine)	-	CPED1	ENST00000310396,p.S999L|NM_024913,p.S999L|uc003vjq.4,p.S999L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003vjq.4	nonsynonymous SNV	exon23	c.C2996T	p.S999L	SKLQQGTVTNFRSPYHVRGPINQVC	SKLQQGTVTNFRLPYHVRGPINQVC	7.0	4.0	-	-	3795_7:120935621-120935621 C>T_SKLQQGTVTNFRLPYHVRGPINQVC
20:44511429-44511429 C>G	1.0	3795	MELANOMA	-	-	-	-	ZSWIM1	ENST00000372520,p.C66W|uc010ghi.3,p.C66W|NM_080603,p.C66W|ENST00000372523,p.C66W|uc021wem.1,p.C66W	protein_coding	uc021wem.1	nonsynonymous SNV	exon1	c.C198G	p.C66W	KTAQLDTFNYQSCFMQSVFDHFPEI	KTAQLDTFNYQSWFMQSVFDHFPEI	6.0	2.0	-	-	3795_20:44511429-44511429 C>G_KTAQLDTFNYQSWFMQSVFDHFPEI
8:66651762-66651770 ATCTAAATG>-	0.0	3795	MELANOMA	-	-	-	-	PDE7A	uc003xvr.3,p.188_190del|ENST00000396642,p.188_190del|ENST00000401827,p.188_190del|uc003xvp.3,p.162_164del|uc003xvq.3,p.188_190del|NM_001242318,p.188_190del|ENST00000379419,p.162_164del|NM_002603,p.162_164del	retained_intron, protein_coding, processed_transcript	uc003xvr.3	nonframeshift deletion	exon6	c.562_570del	p.188_190del	HLFSLHGLIEYFHLDMMKLRRFLVM	HLFSLHGLIEYFMMKLRRFLVMIQE	8.0	5.0	unscreened	-	3795_8:66651762-66651770 ATCTAAATG>-_HLFSLHGLIEYFMMKLRRFLVMIQE
18:6837298-6837298 G>A	1.0	3795	MELANOMA	-	-	-	-	ARHGAP28	ENST00000383472,p.R143Q|ENST00000584387,p.R75Q|ENST00000400091,p.R143Q|ENST00000262227,p.R91Q|uc002knc.3,p.R91Q|ENST00000532723,p.R91Q	retained_intron, protein_coding, nonsense_mediated_decay	uc002knc.3	nonsynonymous SNV	exon3	c.G272A	p.R91Q	EEDGKALLSTLTRTQAAAVQKRYHT	EEDGKALLSTLTQTQAAAVQKRYHT	8.0	4.0	-	-	3795_18:6837298-6837298 G>A_EEDGKALLSTLTQTQAAAVQKRYHT
6:142758654-142758654 C>T	0.0	3795	MELANOMA	-	-	-	-	GPR126	uc010khc.3,p.R1135W|NM_001032394,p.R1107W|uc010khf.3,p.R1107W|NM_198569,p.R1135W|uc010khd.3,p.R1107W|uc010khe.3,p.R1135W|NM_020455,p.R1135W|NM_001032395,p.R1107W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010khf.3	nonsynonymous SNV	exon22	c.C3319T	p.R1107W	KQWRRHLCCGRFRLADNSDWSKTAT	KQWRRHLCCGRFWLADNSDWSKTAT	9.0	3.0	unscreened	-	3795_6:142758654-142758654 C>T_KQWRRHLCCGRFWLADNSDWSKTAT
7:83739836-83739836 C>T	1.0	3795	MELANOMA	-	-	-	-	SEMA3A	uc003uhz.3,p.G135R|NM_006080,p.G135R|ENST00000265362,p.G135R|ENST00000436949,p.G135R|ENST00000420047,p.G135R	protein_coding, processed_transcript	uc003uhz.3	nonsynonymous SNV	exon4	c.G403A	p.G135R	AYNQTHLYACGTGAFHPICTYIEIG	AYNQTHLYACGTRAFHPICTYIEIG	10.0	4.0	-	-	3795_7:83739836-83739836 C>T_AYNQTHLYACGTRAFHPICTYIEIG
6:56472918-56472918 G>A	1.0	3795	MELANOMA	-	-	-	-	RNU6-71P	ENST00000312431,p.P1959S|ENST00000439203,p.P1633S|ENST00000370769,p.P1959S|ENST00000370754,p.P2137S|uc021zax.1,p.P1633S|ENST00000446842,p.P1633S|ENST00000361203,p.P1959S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zax.1	nonsynonymous SNV	exon26	c.C4897T	p.P1633S	NARRWLSFCKFQPSTVHDYRQEEDV	NARRWLSFCKFQSSTVHDYRQEEDV	10.0	8.0	-	-	3795_6:56472918-56472918 G>A_NARRWLSFCKFQSSTVHDYRQEEDV
11:134063916-134063916 G>A	1.0	3795	MELANOMA	-	-	-	-	NCAPD3	ENST00000534548,p.L607F|ENST00000525964,p.L607F|uc001qhd.1,p.L607F|NM_015261,p.L607F|ENST00000534532,p.L607F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001qhd.1	nonsynonymous SNV	exon15	c.C1819T	p.L607F	VRKQALQSLTELLMAQPRCVQIQKA	VRKQALQSLTELFMAQPRCVQIQKA	8.0	10.0	-	-	3795_11:134063916-134063916 G>A_VRKQALQSLTELFMAQPRCVQIQKA
11:134128935-134128935 C>T	1.0	3795	MELANOMA	-	-	-	-	ACAD8	uc010scr.1,p.S137F|ENST00000543332,p.S77F|uc010scq.2,p.S98F|uc009zdc.3,p.S77F|ENST00000537423,p.S98F|uc009zde.1,p.S48F|uc001qhk.3,p.S175F|ENST00000281182,p.S175F|NM_014384,p.S175F|uc010sco.1,p.S77F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010scr.1	nonsynonymous SNV	exon4	c.C410T	p.S137F	PGSGSDAASLLTSAKKQGDHYILNG	PGSGSDAASLLTFAKKQGDHYILNG	6.0	10.0	-	-	3795_11:134128935-134128935 C>T_PGSGSDAASLLTFAKKQGDHYILNG
11:134128935-134128935 C>T	1.0	3795	MELANOMA	-	-	-	-	ACAD8	uc001qhl.3,p.S48F|ENST00000374752,p.S48F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001qhl.3	nonsynonymous SNV	exon2	c.C143T	p.S48F	DRSGSDAASLLTSAKKQGDHYILNG	DRSGSDAASLLTFAKKQGDHYILNG	6.0	10.0	-	-	3795_11:134128935-134128935 C>T_DRSGSDAASLLTFAKKQGDHYILNG
17:30520173-30520173 C>T	0.0	3795	MELANOMA	-	-	-	-	RHOT1	uc002hgz.3,p.P220S|NM_001288758,p.P93S|uc010wby.2,p.P220S|ENST00000358365,p.P220S|ENST00000545287,p.P220S|NM_001033566,p.P220S|uc002hgy.3,p.P220S|NM_001288755,p.P199S|ENST00000581031,p.P220S|uc002hgv.3,p.P220S|uc002hgx.3,p.P93S|ENST00000583994,p.P93S|uc002hha.3,p.P93S|ENST00000394692,p.P220S|NM_001288754,p.P220S|NM_001033567,p.P93S|NM_018307,p.P220S|uc002hhb.3,p.P199S|ENST00000581094,p.P220S|NM_001033568,p.P220S|uc002hgw.3,p.P220S|ENST00000354266,p.P199S|ENST00000333942,p.P220S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wby.2	nonsynonymous SNV	exon10	c.C658T	p.P220S	ELNFFQRICFNTPLAPQALEDVKNV	ELNFFQRICFNTSLAPQALEDVKNV	9.0	10.0	-	-	3795_17:30520173-30520173 C>T_ELNFFQRICFNTSLAPQALEDVKNV
13:25021201-25021201 G>A	0.0	3795	MELANOMA	-	rs201405094	ID=COSM231303;OCCURENCE=1(lung),1(skin)	-	PARP4	uc001upl.3,p.L1080F|ENST00000381989,p.L1080F|NM_006437,p.L1080F	retained_intron, protein_coding, processed_transcript	uc001upl.3	nonsynonymous SNV	exon26	c.C3238T	p.L1080F	ALQAPAQVPSLFLNDRLLVYGFIPH	ALQAPAQVPSLFFNDRLLVYGFIPH	8.0	1.0	unscreened	-	3795_13:25021201-25021201 G>A_ALQAPAQVPSLFFNDRLLVYGFIPH
12:124821712-124821712 G>A	1.0	3795	MELANOMA	-	-	-	1	NCOR2	NM_001206654,p.S1891F|NM_006312,p.S1901F|uc010tbc.2,p.S1891F|ENST00000404621,p.S1891F|ENST00000397355,p.S1892F|NM_001077261,p.S1891F|ENST00000429285,p.S1891F|uc010tax.2,p.S22F|uc010tbb.2,p.S1901F|ENST00000404121,p.S1462F|uc021rgc.1,p.S1891F|ENST00000356219,p.S1908F|ENST00000405201,p.S1901F	retained_intron, protein_coding	uc021rgc.1	nonsynonymous SNV	exon39	c.C5672T	p.S1891F	PSTPTVLRSTSTSSPVRPAATFPPA	PSTPTVLRSTSTFSPVRPAATFPPA	10.0	10.0	-	-	3795_12:124821712-124821712 G>A_PSTPTVLRSTSTFSPVRPAATFPPA
14:72172031-72172031 C>T	0.0	3795	MELANOMA	-	-	-	-	SIPA1L1	ENST00000381232,p.H1247Y|NM_001284247,p.H1268Y|uc010ttm.2,p.H722Y|ENST00000555818,p.H1268Y|uc001xmu.3,p.H1247Y|NM_015556,p.H1268Y|uc001xms.3,p.H1268Y|NM_001284246,p.H1247Y|NM_001284245,p.H1247Y|ENST00000537413,p.H722Y|uc001xmt.3,p.H1247Y|ENST00000358550,p.H1247Y|uc001xmv.3,p.H1268Y	retained_intron, protein_coding, processed_transcript	uc010ttm.2	nonsynonymous SNV	exon12	c.C2164T	p.H722Y	PSGRLMRQDPVVHLSPNKQGHSDSH	PSGRLMRQDPVVYLSPNKQGHSDSH	9.0	3.0	-	-	3795_14:72172031-72172031 C>T_PSGRLMRQDPVVYLSPNKQGHSDSH
3:36873441-36873441 G>A	0.0	3795	MELANOMA	-	-	-	-	TRANK1	NM_014831,p.L2501F|ENST00000428977,p.L1951F|ENST00000301807,p.L1951F|uc003cgj.3,p.L2501F|ENST00000429976,p.L2501F	protein_coding, processed_transcript	uc003cgj.3	nonsynonymous SNV	exon21	c.C7501T	p.L2501F	LCGYENVNFNVLLDAFSEIDYVVSG	LCGYENVNFNVLFDAFSEIDYVVSG	6.0	8.0	-	-	3795_3:36873441-36873441 G>A_LCGYENVNFNVLFDAFSEIDYVVSG
8:21980025-21980025 G>A	1.0	3795	MELANOMA	-	-	-	-	HR	NM_005144,p.P701L|uc003xat.3,p.P701L|ENST00000312841,p.P701L|uc003xas.3,p.P701L|ENST00000381418,p.P701L|NM_018411,p.P701L	retained_intron, protein_coding, processed_transcript	uc003xat.3	nonsynonymous SNV	exon8	c.C2102T	p.P701L	HCPCQADARVWAPGDAGQQKESTQK	HCPCQADARVWALGDAGQQKESTQK	8.0	4.0	-	-	3795_8:21980025-21980025 G>A_HCPCQADARVWALGDAGQQKESTQK
X:53964490-53964490 C>T	0.0	3795	MELANOMA	-	-	-	-	PHF8	ENST00000338946,p.R924Q|NM_001184897,p.R924Q|uc004dsv.3,p.R891Q|uc004dsw.3,p.R924Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004dsw.3	nonsynonymous SNV	exon22	c.G2771A	p.R924Q	ILKIHRNGKLLLRQVIVQAECRQAI	ILKIHRNGKLLLQQVIVQAECRQAI	9.0	3.0	unscreened	-	3795_X:53964490-53964490 C>T_ILKIHRNGKLLLQQVIVQAECRQAI
6:142758654-142758654 C>T	0.0	3795	MELANOMA	-	-	-	-	GPR126	uc011edv.2,p.R195W|ENST00000230173,p.R1135W|ENST00000367609,p.R1135W|ENST00000296932,p.R1107W|ENST00000367608,p.R1107W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011edv.2	nonsynonymous SNV	exon3	c.C583T	p.R195W	KQWRQHLCCGRFRLADNSDWSKTAT	KQWRQHLCCGRFWLADNSDWSKTAT	9.0	3.0	unscreened	-	3795_6:142758654-142758654 C>T_KQWRQHLCCGRFWLADNSDWSKTAT
11:125831828-125831828 G>A	1.0	3795	MELANOMA	-	-	-	-	CDON	uc009zbw.3,p.P1141L|uc001qdb.4,p.P518L|ENST00000392693,p.P1141L|NM_016952,p.P1141L|NM_001243597,p.P1141L|ENST00000263577,p.P1141L|uc001qdc.4,p.P1141L|ENST00000531738,p.P518L	retained_intron, protein_coding, nonsense_mediated_decay	uc009zbw.3	nonsynonymous SNV	exon19	c.C3422T	p.P1141L	SSSPPPVVPVVAPYPQDGLEMKPLS	SSSPPPVVPVVALYPQDGLEMKPLS	8.0	10.0	-	-	3795_11:125831828-125831828 G>A_SSSPPPVVPVVALYPQDGLEMKPLS
1:236897795-236897795 C>T	0.0	3795	MELANOMA	-	-	-	-	ACTN2	ENST00000542672,p.H254Y|uc009xgi.1,p.H254Y|uc010pxu.1,p.H39Y|NM_001278343,p.H254Y	protein_coding, processed_transcript	uc010pxu.1	nonsynonymous SNV	exon2	c.C115T	p.H39Y	ERAIMTYVSCYYHAFAGAQKAETAA	ERAIMTYVSCYYYAFAGAQKAETAA	6.0	7.0	-	-	3795_1:236897795-236897795 C>T_ERAIMTYVSCYYYAFAGAQKAETAA
3:15270529-15270529 G>A	1.0	3795	MELANOMA	-	-	-	-	CAPN7	NM_014296,p.A301T|ENST00000253693,p.A301T|uc003bzn.3,p.A301T	retained_intron, protein_coding, nonsense_mediated_decay	uc003bzn.3	nonsynonymous SNV	exon8	c.G901A	p.A301T	DCSFVASLAISAAYERRFNKKLITG	DCSFVASLAISATYERRFNKKLITG	9.0	3.0	-	-	3795_3:15270529-15270529 G>A_DCSFVASLAISATYERRFNKKLITG
2:96525794-96525794 C>A	0.0	3795	MELANOMA	-	-	-	-	LINC00342,FAHD2CP	ENST00000456556,p.K1237N|uc002suz.1,p.K264N|uc002svb.1,p.K264N|ENST00000420871,p.K488N|ENST00000419039,p.K264N	retained_intron, protein_coding, nonsense_mediated_decay	uc002svb.1	nonsynonymous SNV	exon33	c.G792T	p.K264N	KCKDCVHLLKIKKTFCLCKRLTELK	KCKDCVHLLKIKNTFCLCKRLTELK	9.0	2.0	unscreened	-	3795_2:96525794-96525794 C>A_KCKDCVHLLKIKNTFCLCKRLTELK
1:247586622-247586622 C>T	0.0	3795	MELANOMA	-	-	-	-	NLRP3	NM_004895,p.S125L|ENST00000348069,p.S125L|uc001ics.3,p.S125L|NM_183395,p.S125L|ENST00000391828,p.S125L|ENST00000366496,p.S125L|uc001icw.3,p.S125L|ENST00000336119,p.S125L|NM_001079821,p.S125L|uc001ict.1,p.S123L|uc001icu.3,p.S125L|uc010pyw.2,p.S123L|NM_001243133,p.S123L|ENST00000366497,p.S125L|uc001icv.3,p.S125L|uc001icr.3,p.S125L|NM_001127461,p.S125L|ENST00000391827,p.S125L|NM_001127462,p.S125L	protein_coding, processed_transcript	uc010pyw.2	nonsynonymous SNV	exon2	c.C368T	p.S123L	IEEEWMGLLEYLSRISICKMKKDYR	IEEEWMGLLEYLLRISICKMKKDYR	5.0	2.0	-	-	3795_1:247586622-247586622 C>T_IEEEWMGLLEYLLRISICKMKKDYR
16:30770728-30770728 C>T	0.0	3795	MELANOMA	-	-	-	-	C16orf93	uc021tgp.2,p.E59K|ENST00000541260,p.E263K|uc002dzo.4,p.E161K|uc002dzm.3,p.E198K|ENST00000543610,p.E198K|NM_001014979,p.E198K	retained_intron, protein_coding, nonsense_mediated_decay	uc021tgp.2	nonsynonymous SNV	exon4	c.G175A	p.E59K	IDLFKEEQLLALEDYVVNTYFRHFK	IDLFKEEQLLALKDYVVNTYFRHFK	7.0	7.0	unscreened	-	3795_16:30770728-30770728 C>T_IDLFKEEQLLALKDYVVNTYFRHFK
2:179600708-179600708 G>A	0.0	3795	MELANOMA	-	-	-	-	TTN	uc031rqd.1,p.P4505L|NM_133378,p.P3578L|ENST00000591111,p.P4505L|ENST00000589042,p.P4822L|NM_001267550,p.P4822L|uc021vsy.2,p.P3578L|uc031rqc.1,p.P4822L|ENST00000342992,p.P3578L|uc002umz.1,p.P239L|NM_001256850,p.P4505L	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon48	c.C13514T	p.P4505L	KAAKFICTVTGTPVIETIWQKDGAA	KAAKFICTVTGTLVIETIWQKDGAA	9.0	6.0	unscreened	-	3795_2:179600708-179600708 G>A_KAAKFICTVTGTLVIETIWQKDGAA
7:101962018-101962018 C>T	0.0	3795	MELANOMA	-	-	-	-	SH2B2	ENST00000306803,p.A606V|ENST00000536178,p.A646V	protein_coding	ENST00000536178	nonsynonymous SNV	exon10	c.C1937T	p.A646V	RSNSAERLLEAVAATAAEEPPEAAP	RSNSAERLLEAVVATAAEEPPEAAP	6.0	3.0	unscreened	-	3795_7:101962018-101962018 C>T_RSNSAERLLEAVVATAAEEPPEAAP
3:151163507-151163507 A>G	0.0	3795	MELANOMA	-	-	-	-	IGSF10	ENST00000282466,p.I1421T|uc011bod.2,p.I1421T|NM_178822,p.I1421T	protein_coding, processed_transcript	uc011bod.2	nonsynonymous SNV	exon4	c.T4262C	p.I1421T	SFHSRTLNLTDVIEELAQASTQTLK	SFHSRTLNLTDVTEELAQASTQTLK	8.0	8.0	unscreened	-	3795_3:151163507-151163507 A>G_SFHSRTLNLTDVTEELAQASTQTLK
20:34136585-34136585 C>T	1.0	3795	MELANOMA	-	-	-	-	ERGIC3	ENST00000447986,p.P218S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000447986	nonsynonymous SNV	exon7	c.C652T	p.P218S	EVNKVAGNFHFAPGKSFQQSHVHGC	EVNKVAGNFHFASGKSFQQSHVHGC	10.0	6.0	unscreened	-	3795_20:34136585-34136585 C>T_EVNKVAGNFHFASGKSFQQSHVHGC
1:27736626-27736626 G>A	1.0	3795	MELANOMA	-	-	-	-	WASF2	ENST00000430629,p.P300L|uc001bof.2,p.P300L|NM_006990,p.P300L	protein_coding	uc001bof.2	nonsynonymous SNV	exon8	c.C899T	p.P300L	GPKRSSVVSPSHPPPAPPLGSPPGP	GPKRSSVVSPSHLPPAPPLGSPPGP	10.0	3.0	-	-	3795_1:27736626-27736626 G>A_GPKRSSVVSPSHLPPAPPLGSPPGP
7:35288374-35288374 G>A	0.0	3795	MELANOMA	-	-	-	-	TBX20	NM_001166220,p.P154S|ENST00000408931,p.P154S|NM_001077653,p.P154S|uc011kas.2,p.P154S	retained_intron, protein_coding	uc011kas.2	nonsynonymous SNV	exon3	c.C460T	p.P154S	PEAKYIVLMDIVPVDNKRYRYAYHR	PEAKYIVLMDIVSVDNKRYRYAYHR	2.0	6.0	unscreened	-	3795_7:35288374-35288374 G>A_PEAKYIVLMDIVSVDNKRYRYAYHR
16:1576734-1576734 C>A	0.0	3795	MELANOMA	-	-	-	-	IFT140	NM_014714,p.K821N|uc002cmb.3,p.K821N|ENST00000361339,p.K15N|ENST00000426508,p.K821N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002cmb.3	nonsynonymous SNV	exon20	c.G2463T	p.K821N	RMCVKTQRLDVAKVCLGNMGHARGA	RMCVKTQRLDVANVCLGNMGHARGA	7.0	1.0	unscreened	-	3795_16:1576734-1576734 C>A_RMCVKTQRLDVANVCLGNMGHARGA
14:81329127-81329127 C>T	0.0	3795	MELANOMA	-	-	-	-	CEP128	uc001xux.2,p.G246R|uc001xuy.1,p.G104R|uc031qpo.1,p.G246R|ENST00000555265,p.G246R|ENST00000281129,p.G246R|NM_152446,p.G246R|ENST00000216517,p.G246R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qpo.1	nonsynonymous SNV	exon9	c.G736A	p.G246R	ERELVERRQDQLGLMSLQLQEALKK	ERELVERRQDQLRLMSLQLQEALKK	7.0	2.0	-	-	3795_14:81329127-81329127 C>T_ERELVERRQDQLRLMSLQLQEALKK
20:34136585-34136585 C>T	1.0	3795	MELANOMA	-	-	-	-	ERGIC3	uc002xcr.1,p.P218S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002xcr.1	nonsynonymous SNV	exon7	c.C652T	p.P218S	EVNKVAGNFHFAPGKSFQQSHVHGE	EVNKVAGNFHFASGKSFQQSHVHGE	10.0	6.0	unscreened	-	3795_20:34136585-34136585 C>T_EVNKVAGNFHFASGKSFQQSHVHGE
20:34136585-34136585 C>T	1.0	3795	MELANOMA	-	-	-	-	ERGIC3	uc002xct.3,p.P218S|ENST00000348547,p.P218S|uc010zvg.2,p.P218S|NM_015966,p.P218S|uc002xcs.3,p.P218S|NM_198398,p.P218S|ENST00000357394,p.P218S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zvg.2	nonsynonymous SNV	exon7	c.C652T	p.P218S	EVNKVAGNFHFAPGKSFQQSHVHVH	EVNKVAGNFHFASGKSFQQSHVHVH	10.0	6.0	-	-	3795_20:34136585-34136585 C>T_EVNKVAGNFHFASGKSFQQSHVHVH
20:34136585-34136585 C>T	1.0	3795	MELANOMA	-	-	-	-	ERGIC3	ENST00000279052,p.P218S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000279052	nonsynonymous SNV	exon7	c.C652T	p.P218S	EVNKVAGNFHFAPGKSFQQSHVHVQ	EVNKVAGNFHFASGKSFQQSHVHVQ	10.0	6.0	unscreened	-	3795_20:34136585-34136585 C>T_EVNKVAGNFHFASGKSFQQSHVHVQ
6:40399472-40399472 C>T	0.0	3795	MELANOMA	-	-	-	-	LRFN2	NM_020737,p.D461N|ENST00000338305,p.D461N|uc003oph.1,p.D461N	protein_coding	uc003oph.1	nonsynonymous SNV	exon2	c.G1381A	p.D461N	VKMYQLQYNCSDDEVLIYRMIPASN	VKMYQLQYNCSDNEVLIYRMIPASN	2.0	8.0	unscreened	-	3795_6:40399472-40399472 C>T_VKMYQLQYNCSDNEVLIYRMIPASN
19:38894093-38894093 G>A	0.0	3795	MELANOMA	-	-	-	-	FAM98C	ENST00000589029,p.E50K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000589029	nonsynonymous SNV	exon2	c.G148A	p.E50K	RSWRRWAPSSSSERRARRC	RSWRRWAPSSSSKRRARRC	6.0	5.0	unscreened	-	3795_19:38894093-38894093 G>A_RSWRRWAPSSSSKRRARRC
1:148024736-148024736 C>T	0.0	3795	MELANOMA	-	-	-	-	NBPF8	uc001eqe.3,p.S33N|uc001eqg.3,p.S33N	protein_coding	uc001eqg.3	nonsynonymous SNV	exon3	c.G98A	p.S33N	SKNSWLRGVDWHSTLSKSSAQKMTT	SKNSWLRGVDWHNTLSKSSAQKMTT	8.0	1.0	unscreened	-	3795_1:148024736-148024736 C>T_SKNSWLRGVDWHNTLSKSSAQKMTT
8:145000009-145000009 G>A	1.0	3795	MELANOMA	-	-	-	-	PLEC	NM_201380,p.A1500V|ENST00000398774,p.A1331V|ENST00000322810,p.A1500V|ENST00000527096,p.A1386V|ENST00000436759,p.A1390V|NM_201382,p.A1363V|NM_201378,p.A1349V|uc003zag.1,p.A1341V|uc003zac.1,p.A1367V|ENST00000354958,p.A1341V|NM_201383,p.A1367V|uc003zab.1,p.A1363V|NM_201381,p.A1331V|uc003zae.1,p.A1331V|ENST00000345136,p.A1363V|uc003zaf.1,p.A1500V|NM_000445,p.A1390V|ENST00000354589,p.A1363V|ENST00000357649,p.A1367V|NM_201379,p.A1341V|uc003zad.2,p.A1363V|uc003zah.2,p.A1349V|NM_201384,p.A1363V|uc003zaj.2,p.A1390V|ENST00000356346,p.A1349V	retained_intron, protein_coding	uc003zaj.2	nonsynonymous SNV	exon32	c.C4169T	p.A1390V	AEQQRAEERERLAEVEAALEKQRQL	AEQQRAEERERLVEVEAALEKQRQL	9.0	3.0	-	-	3795_8:145000009-145000009 G>A_AEQQRAEERERLVEVEAALEKQRQL
19:23837295-23837295 T>C	0.0	3795	MELANOMA	-	-	-	-	ZNF675	ENST00000359788,p.D147G|uc002nri.3,p.D147G|ENST00000599535,p.D78G|NM_138330,p.D147G	retained_intron, protein_coding, nonsense_mediated_decay	uc002nri.3	nonsynonymous SNV	exon4	c.A440G	p.D147G	CLPTMQSKMFQCDKYVKVFNKFSHS	CLPTMQSKMFQCGKYVKVFNKFSHS	7.0	5.0	unscreened	-	3795_19:23837295-23837295 T>C_CLPTMQSKMFQCGKYVKVFNKFSHS
3:108788569-108788569 G>A	0.0	3795	MELANOMA	-	-	-	-	MORC1	uc003dxl.3,p.S242F|ENST00000483760,p.S242F|NM_014429,p.S242F|uc011bhn.2,p.S242F|ENST00000232603,p.S242F	protein_coding	uc011bhn.2	nonsynonymous SNV	exon9	c.C725T	p.S242F	DFPARWSFRAYTSVLYFNPWMRIFI	DFPARWSFRAYTFVLYFNPWMRIFI	1.0	2.0	-	-	3795_3:108788569-108788569 G>A_DFPARWSFRAYTFVLYFNPWMRIFI
1:173616111-173616111 C>T	0.0	3795	MELANOMA	-	-	-	-	ANKRD45	ENST00000333279,p.E124K|uc001gja.1,p.E124K|NM_198493,p.E124K	retained_intron, protein_coding	uc001gja.1	nonsynonymous SNV	exon3	c.G370A	p.E124K	TLLHCAAAWGRLETLKALVELDVDI	TLLHCAAAWGRLKTLKALVELDVDI	6.0	2.0	-	-	3795_1:173616111-173616111 C>T_TLLHCAAAWGRLKTLKALVELDVDI
18:34647298-34647298 C>T	0.0	3795	MELANOMA	-	-	-	-	KIAA1328	uc002kzz.3,p.S341F|ENST00000280020,p.S341F|ENST00000591619,p.S337F|ENST00000435985,p.S57F|uc002lad.3,p.S57F|ENST00000586501,p.S57F|ENST00000586135,p.S57F|uc002lac.1,p.S164F|uc002lab.3,p.S57F|NM_020776,p.S341F|ENST00000543923,p.S233F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002lad.3	nonsynonymous SNV	exon1	c.C170T	p.S57F	KTHPESCSYCRLSWASLVHGGGALQ	KTHPESCSYCRLFWASLVHGGGALQ	7.0	7.0	unscreened	-	3795_18:34647298-34647298 C>T_KTHPESCSYCRLFWASLVHGGGALQ
1:11883887-11883887 G>A	0.0	3795	MELANOMA	-	-	-	-	CLCN6	ENST00000376487,p.G171R|uc009vnh.2,p.G193R|ENST00000346436,p.G193R|ENST00000376496,p.G193R|ENST00000312413,p.G193R|uc009vng.2,p.G193R|uc009vnf.2,p.G193R	protein_coding, processed_transcript	uc009vnh.2	nonsynonymous SNV	exon7	c.G577A	p.G193R	LCKVLGVLFSVAGGLFVEKEGPMIH	LCKVLGVLFSVARGLFVEKEGPMIH	7.0	8.0	unscreened	-	3795_1:11883887-11883887 G>A_LCKVLGVLFSVARGLFVEKEGPMIH
7:6731942-6731942 G>A	0.0	3795	MELANOMA	-	-	ID=COSM1091394;OCCURENCE=1(endometrium)	-	ZNF12	NM_006956,p.R173C|ENST00000404360,p.R137C|uc003sqs.1,p.R173C|uc011jxa.1,p.R49C|NM_016265,p.R211C|ENST00000405858,p.R211C|uc003sqt.1,p.R211C|ENST00000342651,p.R173C	protein_coding, processed_transcript	uc011jxa.1	nonsynonymous SNV	exon5	c.C145T	p.R49C	YTLNEESLYQKIRILEKPFEYIECQ	YTLNEESLYQKICILEKPFEYIECQ	8.0	7.0	unscreened	-	3795_7:6731942-6731942 G>A_YTLNEESLYQKICILEKPFEYIECQ
1:170502742-170502742 C>T	1.0	3795	MELANOMA	-	-	-	-	GORAB	uc009wvw.2,p.L92F	protein_coding, processed_transcript	uc009wvw.2	nonsynonymous SNV	exon2	c.C274T	p.L92F	QEEPHSAGDWMELGKISQSLCVSRG	QEEPHSAGDWMEFGKISQSLCVSRG	9.0	2.0	-	-	3795_1:170502742-170502742 C>T_QEEPHSAGDWMEFGKISQSLCVSRG
3:3076343-3076343 C>A	1.0	3795	MELANOMA	-	-	-	-	CNTN4	uc003bpe.3,p.T276K|ENST00000358480,p.T385K|ENST00000397459,p.T276K|ENST00000448906,p.T276K|NM_175607,p.T604K|uc021wsg.1,p.T604K|ENST00000418658,p.T604K|ENST00000397461,p.T604K|ENST00000427331,p.T604K|NM_175613,p.T276K|uc003bpc.3,p.T604K|NM_001206956,p.T275K|uc003bpd.1,p.T604K|uc003bpf.3,p.T275K|NM_001206955,p.T604K|uc003bpb.1,p.T275K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wsg.1	nonsynonymous SNV	exon16	c.C1811A	p.T604K	IVRGPPGPPEAVTIDEITDTTAQLS	IVRGPPGPPEAVKIDEITDTTAQLS	10.0	8.0	-	-	3795_3:3076343-3076343 C>A_IVRGPPGPPEAVKIDEITDTTAQLS
11:40137302-40137302 C>T	0.0	3795	MELANOMA	-	-	-	-	LRRC4C	uc031pzu.1,p.E181K|uc031pzt.1,p.E181K|ENST00000528697,p.E181K|ENST00000527150,p.E181K|ENST00000278198,p.E181K|uc001mxb.2,p.E177K|ENST00000530763,p.E181K|uc031pzs.1,p.E177K|NM_020929,p.E181K|NM_001258419,p.E181K|uc021qgf.1,p.E181K	protein_coding, processed_transcript	uc031pzu.1	nonsynonymous SNV	exon5	c.G541A	p.E181K	NRIPSLRRLDLGELKRLSYISEGAF	NRIPSLRRLDLGKLKRLSYISEGAF	1.0	10.0	-	-	3795_11:40137302-40137302 C>T_NRIPSLRRLDLGKLKRLSYISEGAF
1:11883887-11883887 G>A	0.0	3795	MELANOMA	-	-	-	-	CLCN6	NM_001256959,p.G171R|uc001ate.5,p.G193R|uc010oau.3,p.G171R|NM_001286,p.G193R	protein_coding, processed_transcript	uc010oau.3	nonsynonymous SNV	exon6	c.G511A	p.G171R	LCKVLGVLFSVAGGLFVGKEGPMIH	LCKVLGVLFSVARGLFVGKEGPMIH	7.0	8.0	-	-	3795_1:11883887-11883887 G>A_LCKVLGVLFSVARGLFVGKEGPMIH
1:155451138-155451138 G>A	1.0	3795	MELANOMA	-	-	-	-	ASH1L	uc009wqr.1,p.S508F|uc009wqq.3,p.S508F|NM_018489,p.S508F|ENST00000368346,p.S508F|ENST00000392403,p.S508F|uc001fkt.3,p.S508F	retained_intron, protein_coding, nonsense_mediated_decay	uc009wqr.1	nonsynonymous SNV	exon4	c.C1523T	p.S508F	NEGTCIQQDSFSSSEKGSYETSKHE	NEGTCIQQDSFSFSEKGSYETSKHE	9.0	2.0	-	-	3795_1:155451138-155451138 G>A_NEGTCIQQDSFSFSEKGSYETSKHE
11:56258183-56258183 G>A	0.0	3795	MELANOMA	-	-	-	-	OR5M8	NM_001005282,p.P222S|ENST00000327216,p.P222S|uc001nix.1,p.P222S	protein_coding	uc001nix.1	nonsynonymous SNV	exon1	c.C664T	p.P222S	LFIICISYLYIFPAILKIRSTEGRQ	LFIICISYLYIFSAILKIRSTEGRQ	1.0	10.0	-	-	3795_11:56258183-56258183 G>A_LFIICISYLYIFSAILKIRSTEGRQ
2:3392410-3392410 C>A	1.0	3795	MELANOMA	-	-	-	-	TRAPPC12	NM_016030,p.T339N|uc002qxm.1,p.T339N|uc010ewm.1,p.T339N|ENST00000382110,p.T339N|uc002qxn.1,p.T339N|ENST00000324266,p.T339N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ewm.1	nonsynonymous SNV	exon1	c.C1016A	p.T339N	QRGAVFVDKENLTMPGLRFDNIQGD	QRGAVFVDKENLNMPGLRFDNIQGD	10.0	4.0	-	-	3795_2:3392410-3392410 C>A_QRGAVFVDKENLNMPGLRFDNIQGD
16:20809516-20809516 G>A	1.0	3795	MELANOMA	-	-	-	-	ERI2	ENST00000357967,p.P536S|uc010vbc.1,p.P308S|uc010vbb.1,p.P536S|uc010bwh.2,p.P443S|uc002dht.3,p.P443S|ENST00000564349,p.P443S|ENST00000563117,p.P443S|NM_001142725,p.P536S|ENST00000389345,p.P271S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vbc.1	nonsynonymous SNV	exon8	c.C922T	p.P308S	KHPLLSGGTKRNPCSPQAFPPAKKQ	KHPLLSGGTKRNSCSPQAFPPAKKQ	7.0	4.0	-	-	3795_16:20809516-20809516 G>A_KHPLLSGGTKRNSCSPQAFPPAKKQ
3:49723322-49723327 GCGCTG>-	0.0	3795	MELANOMA	-	rs71233013	ID=COSM1724580;OCCURENCE=1(NS)	-	MST1	uc011bcs.1,p.444_446del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bcs.1	nonframeshift deletion	exon9	c.1332_1337del	p.444_446del	AARSARPARVSSASAGPLRRRTSRS	AARSARPARVSSAGPLRRRTSRSSR	6.0	1.0	unscreened	-	3795_3:49723322-49723327 GCGCTG>-_AARSARPARVSSAGPLRRRTSRSSR
15:38811510-38811510 C>T	0.0	3795	MELANOMA	-	-	-	-	RASGRP1	uc001zke.4,p.R130K|uc001zkd.4,p.R130K|ENST00000450598,p.R130K|NM_001128602,p.R130K|ENST00000558418,p.R82K|ENST00000558432,p.R144K|ENST00000414708,p.R130K|ENST00000561180,p.R181K|NM_005739,p.R130K|ENST00000558164,p.R130K|ENST00000310803,p.R130K|ENST00000539159,p.R82K|ENST00000559830,p.R130K	protein_coding, nonsense_mediated_decay	uc001zke.4	nonsynonymous SNV	exon4	c.G389A	p.R130K	SPGLCLKICYFVRYWITEFWVMFKM	SPGLCLKICYFVKYWITEFWVMFKM	6.0	9.0	unscreened	-	3795_15:38811510-38811510 C>T_SPGLCLKICYFVKYWITEFWVMFKM
16:1576734-1576734 C>A	0.0	3795	MELANOMA	-	-	-	-	IFT140	uc002clz.3,p.K472N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002clz.3	nonsynonymous SNV	exon11	c.G1416T	p.K472N	RMCVKTQRLDVAKEDAEQLYRKCKR	RMCVKTQRLDVANEDAEQLYRKCKR	7.0	1.0	unscreened	-	3795_16:1576734-1576734 C>A_RMCVKTQRLDVANEDAEQLYRKCKR
1:147092024-147092024 C>T	0.0	3795	MELANOMA	-	-	-	1	BCL9	ENST00000234739,p.P688L|uc010ozr.1,p.P614L|NM_004326,p.P688L|uc001epq.3,p.P688L	protein_coding, processed_transcript	uc010ozr.1	nonsynonymous SNV	exon5	c.C1841T	p.P614L	IFPRIPVEGPLSPSRGDFPKGIPPQ	IFPRIPVEGPLSLSRGDFPKGIPPQ	8.0	2.0	-	-	3795_1:147092024-147092024 C>T_IFPRIPVEGPLSLSRGDFPKGIPPQ
6:149900054-149900054 C>T	0.0	3795	MELANOMA	-	-	-	-	GINM1	NM_138785,p.S125F|uc003qmq.1,p.S125F|ENST00000367419,p.S125F	protein_coding	uc003qmq.1	nonsynonymous SNV	exon4	c.C374T	p.S125F	RILVHEWPMTSGSSLQLIVIQEEVV	RILVHEWPMTSGFSLQLIVIQEEVV	7.0	4.0	unscreened	-	3795_6:149900054-149900054 C>T_RILVHEWPMTSGFSLQLIVIQEEVV
1:228559270-228559270 G>A	0.0	3795	MELANOMA	-	-	-	-	OBSCN	uc009xez.2,p.E6931K|ENST00000570156,p.E7888K|NM_001098623,p.E6931K|ENST00000422127,p.E6931K|uc001hsr.1,p.E1560K|NM_001271223,p.E7888K|uc001hsq.2,p.E7888K|ENST00000366707,p.E4565K	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon94	c.G20791A	p.E6931K	MEHRVLEEEAAREEQATLLAKAPSF	MEHRVLEEEAARKEQATLLAKAPSF	7.0	2.0	-	-	3795_1:228559270-228559270 G>A_MEHRVLEEEAARKEQATLLAKAPSF
X:74288943-74288943 G>A	0.0	3795	MELANOMA	-	-	-	-	ABCB7	NM_001271696,p.R520C|ENST00000339447,p.R480C|uc004eca.4,p.R520C|ENST00000529949,p.R494C|NM_001271697,p.R480C|uc010nlt.4,p.R480C|NM_004299,p.R521C|uc011mqn.3,p.R494C|NM_001271699,p.R481C|NM_001271698,p.R494C|ENST00000253577,p.R521C|ENST00000373394,p.R520C|uc010nls.4,p.R481C|uc004ebz.4,p.R521C	retained_intron, protein_coding, processed_transcript	uc011mqn.3	nonsynonymous SNV	exon11	c.C1480T	p.R494C	GSGKSTIVRLLFRFYEPQKGSIYLA	GSGKSTIVRLLFCFYEPQKGSIYLA	8.0	7.0	unscreened	-	3795_X:74288943-74288943 G>A_GSGKSTIVRLLFCFYEPQKGSIYLA
5:40958300-40958300 C>T	0.0	3795	MELANOMA	-	-	-	-	C7	NM_000587,p.H476Y|ENST00000313164,p.H476Y|uc003jmh.3,p.H476Y	retained_intron, protein_coding, processed_transcript	uc003jmh.3	nonsynonymous SNV	exon11	c.C1426T	p.H476Y	GLATVEGTHCLCHCKPYTFGAACEQ	GLATVEGTHCLCYCKPYTFGAACEQ	4.0	10.0	-	-	3795_5:40958300-40958300 C>T_GLATVEGTHCLCYCKPYTFGAACEQ
6:25862088-25862088 G>A	0.0	3795	MELANOMA	-	-	-	-	SLC17A3	uc003nfk.4,p.P158L|NM_001098486,p.P158L|uc011djz.1,p.P158L|ENST00000397060,p.P158L	retained_intron, protein_coding, nonsense_mediated_decay	uc011djz.1	nonsynonymous SNV	exon3	c.C473T	p.P158L	SLFATSFLTLCIPLATDFGIVLLIV	SLFATSFLTLCILLATDFGIVLLIV	1.0	7.0	unscreened	-	3795_6:25862088-25862088 G>A_SLFATSFLTLCILLATDFGIVLLIV
22:26692896-26692896 C>T	0.0	3795	MELANOMA	-	-	-	-	SEZ6L	NM_001184774,p.R338C|ENST00000360929,p.R338C|NM_001184776,p.R338C|NM_021115,p.R338C|ENST00000402979,p.R111C|uc003acc.3,p.R338C|uc003acf.1,p.R111C|uc011akc.2,p.R338C|ENST00000248933,p.R338C|uc003acd.3,p.R338C|NM_001184773,p.R338C|ENST00000404234,p.R338C|ENST00000529632,p.R338C|ENST00000403121,p.R111C|ENST00000343706,p.R338C|uc003acb.3,p.R338C|uc011akd.2,p.R338C|uc003ace.3,p.R338C|NM_001184775,p.R338C|uc010gvc.1,p.R111C|NM_001184777,p.R338C	retained_intron, protein_coding, processed_transcript	uc011akd.2	nonsynonymous SNV	exon4	c.C1012T	p.R338C	SVNLSDGELLSIRGVDGPTLTVLAN	SVNLSDGELLSICGVDGPTLTVLAN	9.0	2.0	unscreened	-	3795_22:26692896-26692896 C>T_SVNLSDGELLSICGVDGPTLTVLAN
11:10585760-10585760 C>T	0.0	3795	MELANOMA	-	-	-	-	LYVE1	uc001miv.2,p.E83K|ENST00000256178,p.E83K|NM_006691,p.E83K	protein_coding, processed_transcript, nonsense_mediated_decay	uc001miv.2	nonsynonymous SNV	exon2	c.G247A	p.E83K	KDQVETALKASFETCSYGWVGDGFV	KDQVETALKASFKTCSYGWVGDGFV	7.0	10.0	-	-	3795_11:10585760-10585760 C>T_KDQVETALKASFKTCSYGWVGDGFV
6:43171723-43171723 C>T	0.0	3795	MELANOMA	-	-	-	-	CUL9	ENST00000372647,p.P1386L|ENST00000252050,p.P1386L|NM_015089,p.P1386L|ENST00000354495,p.P1276L|uc003oul.3,p.P1386L|uc003ouk.3,p.P1386L|uc010jyk.3,p.P538L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jyk.3	nonsynonymous SNV	exon19	c.C1613T	p.P538L	ALVSPLVQNITSPDAEGVSALGWLL	ALVSPLVQNITSLDAEGVSALGWLL	8.0	2.0	unscreened	-	3795_6:43171723-43171723 C>T_ALVSPLVQNITSLDAEGVSALGWLL
9:6013702-6013702 C>T	0.0	3795	MELANOMA	-	-	ID=COSM3848642;OCCURENCE=1(breast)	-	RANBP6	NM_001243202,p.E284K|uc011lmf.2,p.E284K|uc003zjr.3,p.E636K|ENST00000259569,p.E636K|NM_012416,p.E636K	protein_coding, processed_transcript	uc011lmf.2	nonsynonymous SNV	exon2	c.G850A	p.E284K	GKDFQQYLPLVIEPLIKTASAKPDV	GKDFQQYLPLVIKPLIKTASAKPDV	6.0	9.0	unscreened	-	3795_9:6013702-6013702 C>T_GKDFQQYLPLVIKPLIKTASAKPDV
3:97851849-97851849 C>T	0.0	3795	MELANOMA	-	-	ID=COSM137858;OCCURENCE=1(skin)	-	OR5H1	NM_001005338,p.S103L|ENST00000354565,p.S103L|uc011bgt.2,p.S103L	protein_coding	uc011bgt.2	nonsynonymous SNV	exon1	c.C308T	p.S103L	MISLSECKIQFFSFAISVTTECFLL	MISLSECKIQFFLFAISVTTECFLL	1.0	8.0	-	-	3795_3:97851849-97851849 C>T_MISLSECKIQFFLFAISVTTECFLL
17:7416577-7416577 C>T	0.0	3795	MELANOMA	-	-	-	-	POLR2A	ENST00000322644,p.S1665L|NM_000937,p.S1665L|uc002ghf.4,p.S1665L	retained_intron, protein_coding	uc002ghf.4	nonsynonymous SNV	exon29	c.C4994T	p.S1665L	TSPSYSPTSPSYSPTSPSYSPTSPS	TSPSYSPTSPSYLPTSPSYSPTSPS	8.0	3.0	unscreened	-	3795_17:7416577-7416577 C>T_TSPSYSPTSPSYLPTSPSYSPTSPS
1:228879290-228879290 G>A	0.0	3795	MELANOMA	-	-	-	-	RHOU	uc001htf.3,p.E194K|ENST00000366691,p.E194K|NM_021205,p.E194K	protein_coding, processed_transcript	uc001htf.3	nonsynonymous SNV	exon3	c.G580A	p.E194K	PVPEEAAKLCAEEIKAASYIECSAL	PVPEEAAKLCAEKIKAASYIECSAL	7.0	2.0	-	-	3795_1:228879290-228879290 G>A_PVPEEAAKLCAEKIKAASYIECSAL
19:15483157-15483157 G>A	1.0	3795	MELANOMA	-	-	-	-	AKAP8	uc002nav.3,p.P288L|NM_005858,p.P288L|ENST00000598597,p.P288L|ENST00000269701,p.P288L|uc010xog.2,p.P102L	retained_intron, protein_coding, nonsense_mediated_decay	uc010xog.2	nonsynonymous SNV	exon3	c.C305T	p.P102L	GRSQPRMRDRDRPKRRGFDRFGPDG	GRSQPRMRDRDRLKRRGFDRFGPDG	8.0	7.0	-	-	3795_19:15483157-15483157 G>A_GRSQPRMRDRDRLKRRGFDRFGPDG
5:90021044-90021044 T>G	0.0	3795	MELANOMA	-	-	-	-	GPR98	NM_032119,p.F3350V|ENST00000405460,p.F3350V|uc003kjv.3,p.F950V|uc003kju.3,p.F3350V	retained_intron, protein_coding, processed_transcript	uc003kjv.3	nonsynonymous SNV	exon15	c.T2848G	p.F950V	NSVFTFTSGFKLFLVQTIIILESSQ	NSVFTFTSGFKLVLVQTIIILESSQ	5.0	10.0	-	-	3795_5:90021044-90021044 T>G_NSVFTFTSGFKLVLVQTIIILESSQ
6:129513982-129513982 C>T	0.0	3795	MELANOMA	-	-	-	-	LAMA2	NM_000426,p.P589L|uc003qbo.3,p.P589L|uc021zfb.1,p.P589L|NM_001079823,p.P589L|ENST00000421865,p.P589L|uc003qbn.3,p.P589L	protein_coding, processed_transcript	uc021zfb.1	nonsynonymous SNV	exon12	c.C1766T	p.P589L	ALPHSYYWSAPAPYLGNKLPAVGGQ	ALPHSYYWSAPALYLGNKLPAVGGQ	1.0	3.0	unscreened	-	3795_6:129513982-129513982 C>T_ALPHSYYWSAPALYLGNKLPAVGGQ
6:43171722-43171722 C>A	0.0	3795	MELANOMA	-	-	-	-	CUL9	NM_015089,p.P1386T|uc003oul.3,p.P1386T|uc003ouk.3,p.P1386T|ENST00000372647,p.P1386T|ENST00000252050,p.P1386T|uc010jyk.3,p.P538T|ENST00000354495,p.P1276T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jyk.3	nonsynonymous SNV	exon19	c.C1612A	p.P538T	ALVSPLVQNITSPDAEGVSALGWLL	ALVSPLVQNITSTDAEGVSALGWLL	8.0	2.0	unscreened	-	3795_6:43171722-43171722 C>A_ALVSPLVQNITSTDAEGVSALGWLL
4:187628644-187628644 G>A	0.0	3795	MELANOMA	-	-	-	1	FAT1	uc003izf.3,p.L780F|NM_005245,p.L780F|ENST00000441802,p.L780F|uc010iso.1,p.L780F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010iso.1	nonsynonymous SNV	exon2	c.C2338T	p.L780F	DMETGMLKILSPLDRETTDKYTLNI	DMETGMLKILSPFDRETTDKYTLNI	8.0	10.0	-	-	3795_4:187628644-187628644 G>A_DMETGMLKILSPFDRETTDKYTLNI
1:248570191-248570191 C>T	0.0	3795	MELANOMA	-	-	-	-	OR2T1	uc010pzm.2,p.S299F|NM_030904,p.S299F|ENST00000366474,p.S299F	protein_coding	uc010pzm.2	nonsynonymous SNV	exon1	c.C896T	p.S299F	AFATCSSHMTVVSLFYGAAMYTYML	AFATCSSHMTVVFLFYGAAMYTYML	1.0	2.0	-	-	3795_1:248570191-248570191 C>T_AFATCSSHMTVVFLFYGAAMYTYML
5:149323926-149323926 C>T	0.0	3795	MELANOMA	-	-	-	-	PDE6A	uc021yfs.1,p.G104D|uc003lrg.4,p.G104D|NM_000440,p.G104D|ENST00000255266,p.G104D	retained_intron, protein_coding	uc021yfs.1	nonsynonymous SNV	exon1	c.G311A	p.G104D	DRMSLFMYRTRNGIAELATRLFNVH	DRMSLFMYRTRNDIAELATRLFNVH	1.0	10.0	-	-	3795_5:149323926-149323926 C>T_DRMSLFMYRTRNDIAELATRLFNVH
14:100615842-100615846 GGCCG>-	0.0	3795	MELANOMA	-	-	-	-	DEGS2	uc001ygx.2,p.A95fs|NM_206918,p.A95fs|ENST00000305631,p.A95fs	protein_coding, processed_transcript	uc001ygx.2	frameshift deletion	exon2	c.284_288del	p.A95fs	SLTLAIHDISHNAAFGTGRAARNRW	SLTLAIHDISHNVRHGPCGTQPLAGRVRQPARGCALRRLLQEVPRGPPPLPGRRRAGRGRAHASGGLVLLHTRPQAALAGAAALLLLTTAALRPPQGRDPHGGAQHAGAAGGRPGHLCPLGAQARGLPAGQLLPGPGPAPHLGPLRGRALHVPQGPRDLLLLWASQLDHLQCGLPRGAPRLPQHPGLQPAAGAEDRARVLRPPAAAPLLGEGALGFCV	1.0	1.0	unscreened	-	3795_14:100615842-100615846 GGCCG>-_SLTLAIHDISHNVRHGPCGTQPLAGRVRQPARGCALRRLLQEVPRGPPPLPGRRRAGRGRAHASGGLVLLHTRPQAALAGAAALLLLTTAALRPPQGRDPHGGAQHAGAAGGRPGHLCPLGAQARGLPAGQLLPGPGPAPHLGPLRGRALHVPQGPRDLLLLWASQLDHLQCGLPRGAPRLPQHPGLQPAAGAEDRARVLRPPAAAPLLGEGALGFCV
17:27893596-27893596 G>A	0.0	3795	MELANOMA	-	-	-	-	ABHD15	uc002hed.2,p.A130V|NM_198147,p.A130V|ENST00000307201,p.A130V	protein_coding	uc002hed.2	nonsynonymous SNV	exon1	c.C389T	p.A130V	PGPELAREYLQLADDGLVALDWVVG	PGPELAREYLQLVDDGLVALDWVVG	4.0	1.0	-	-	3795_17:27893596-27893596 G>A_PGPELAREYLQLVDDGLVALDWVVG
11:89774252-89774252 G>A	0.0	3795	MELANOMA	-	rs672762	-	-	TRIM49C	NM_001195234,p.S298N|uc010rua.2,p.S298N|ENST00000448984,p.S298N	protein_coding	uc010rua.2	nonsynonymous SNV	exon8	c.G893A	p.S298N	RVHITLHHEEANSDIFLYEILRSMC	RVHITLHHEEANNDIFLYEILRSMC	1.0	7.0	unscreened	-	3795_11:89774252-89774252 G>A_RVHITLHHEEANNDIFLYEILRSMC
19:22271094-22271094 C>T	0.0	3795	MELANOMA	-	-	-	-	ZNF257	ENST00000594947,p.S181L|uc010ecy.3,p.S149L|ENST00000597927,p.S105L|NM_033468,p.S181L|uc010ecx.3,p.S181L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ecy.3	nonsynonymous SNV	exon5	c.C446T	p.S149L	EKKTCKCKECGKSFCMLSQLTRHKR	EKKTCKCKECGKLFCMLSQLTRHKR	5.0	4.0	unscreened	-	3795_19:22271094-22271094 C>T_EKKTCKCKECGKLFCMLSQLTRHKR
5:90079758-90079758 C>T	0.0	3795	MELANOMA	-	-	-	-	GPR98	uc003kju.3,p.P4513S|NM_032119,p.P4513S|ENST00000405460,p.P4513S|uc003kjw.3,p.P174S|ENST00000425867,p.P174S	retained_intron, protein_coding, processed_transcript	uc003kjw.3	nonsynonymous SNV	exon3	c.C520T	p.P174S	LVSRIIIAKSDSPFGVIRFLNQSKI	LVSRIIIAKSDSSFGVIRFLNQSKI	5.0	10.0	-	-	3795_5:90079758-90079758 C>T_LVSRIIIAKSDSSFGVIRFLNQSKI
14:70924643-70924643 T>C	0.0	3795	MELANOMA	-	-	-	-	ADAM21	NM_003813,p.Y143H|uc001xmd.3,p.Y143H|uc021rvq.1,p.Y143H|ENST00000267499,p.Y143H|ENST00000603540,p.Y143H	protein_coding	uc021rvq.1	nonsynonymous SNV	exon1	c.T427C	p.Y143H	GFRGVLKISGLTYEIEPIRHSATFE	GFRGVLKISGLTHEIEPIRHSATFE	2.0	1.0	unscreened	-	3795_14:70924643-70924643 T>C_GFRGVLKISGLTHEIEPIRHSATFE
9:139273527-139273527 G>A	1.0	3795	MELANOMA	-	-	-	-	SNAPC4	NM_003086,p.P918S|ENST00000298532,p.P918S|uc004chh.3,p.P918S	protein_coding	uc004chh.3	nonsynonymous SNV	exon21	c.C2752T	p.P918S	RAREATRGPVVLPSQLLVSSSVILQ	RAREATRGPVVLSSQLLVSSSVILQ	5.0	8.0	-	-	3795_9:139273527-139273527 G>A_RAREATRGPVVLSSQLLVSSSVILQ
X:69263780-69263780 A>G	0.0	3795	MELANOMA	-	-	-	-	AWAT2	ENST00000276101,p.L88P|uc004dxt.1,p.L88P|NM_001002254,p.L88P	retained_intron, protein_coding, nonsense_mediated_decay	uc004dxt.1	nonsynonymous SNV	exon3	c.T263C	p.L88P	WRLWKHYSDYFPLKLLKTHDICPSR	WRLWKHYSDYFPPKLLKTHDICPSR	1.0	1.0	-	-	3795_X:69263780-69263780 A>G_WRLWKHYSDYFPPKLLKTHDICPSR
2:96525643-96525643 T>C	0.0	3795	MELANOMA	-	rs1636082	-	-	LINC00342,FAHD2CP	ENST00000420871,p.T539A|ENST00000456556,p.T1288A|uc002suz.1,p.T315A|ENST00000419039,p.T315A	retained_intron, protein_coding, nonsense_mediated_decay	uc002suz.1	nonsynonymous SNV	exon29	c.A943G	p.T315A	EKEEIKSQLKHETLELEKELCSLRF	EKEEIKSQLKHEALELEKELCSLRF	9.0	1.0	unscreened	-	3795_2:96525643-96525643 T>C_EKEEIKSQLKHEALELEKELCSLRF
10:34649179-34649179 T>G	1.0	3795	MELANOMA	-	-	-	-	PARD3	NM_019619,p.E572D|uc010qel.2,p.E572D|uc001ixs.1,p.E225D|NM_001184793,p.E572D|NM_001184787,p.E572D|uc001ixt.1,p.E393D|ENST00000374788,p.E572D|ENST00000374773,p.E572D|ENST00000346874,p.E572D|NM_001184792,p.E572D|ENST00000374789,p.E572D|uc001ixp.2,p.E572D|ENST00000340077,p.E572D|uc010qek.2,p.E572D|uc010qej.2,p.E572D|uc001ixr.2,p.E572D|NM_001184785,p.E572D	protein_coding, processed_transcript	uc010qel.2	nonsynonymous SNV	exon13	c.A1716C	p.E572D	PSQMQIPKETKAEDEDIVLTPDGTR	PSQMQIPKETKADDEDIVLTPDGTR	9.0	9.0	-	-	3795_10:34649179-34649179 T>G_PSQMQIPKETKADDEDIVLTPDGTR
2:141526817-141526817 C>T	0.0	3795	MELANOMA	-	-	-	1	LRP1B	NM_018557,p.G1908E|ENST00000389484,p.G1908E|uc002tvj.1,p.G1908E	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon35	c.G5723A	p.G1908E	PSDKMDALMPISGTSFAVGIDFHAE	PSDKMDALMPISETSFAVGIDFHAE	1.0	6.0	-	-	3795_2:141526817-141526817 C>T_PSDKMDALMPISETSFAVGIDFHAE
7:126746621-126746621 G>A	0.0	3795	MELANOMA	-	-	ID=COSM1085080,COSM1085079;OCCURENCE=2(skin),2(large_intestine),1(ovary),1(endometrium)	-	GRM8	NM_001127323,p.S219L|ENST00000457830,p.S219L|ENST00000444921,p.S219L|ENST00000358373,p.S219L|ENST00000465844,p.S29L|ENST00000472701,p.S219L|ENST00000405249,p.S219L|ENST00000341617,p.S219L|NM_000845,p.S219L|ENST00000339582,p.S219L|uc003vlr.2,p.S219L|uc003vlt.2,p.S219L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003vlt.2	nonsynonymous SNV	exon3	c.C656T	p.S219L	VDIVTALGWNYVSTLASEGNYGESG	VDIVTALGWNYVLTLASEGNYGESG	1.0	4.0	unscreened	-	3795_7:126746621-126746621 G>A_VDIVTALGWNYVLTLASEGNYGESG
7:106830701-106830701 C>T	1.0	3795	MELANOMA	-	-	-	-	HBP1	NM_012257,p.P336S|NM_001244262,p.P346S|ENST00000485846,p.P336S|ENST00000468410,p.P336S|uc003vdy.3,p.P336S|uc003vdz.3,p.P336S|uc003veb.1,p.P336S|ENST00000222574,p.P336S|uc003vea.3,p.P336S|ENST00000498408,p.P328S|uc011klv.2,p.P346S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011klv.2	nonsynonymous SNV	exon8	c.C1036T	p.P346S	PCCEVHIGDVCLPPGHPDAINFDDS	PCCEVHIGDVCLSPGHPDAINFDDS	8.0	6.0	-	-	3795_7:106830701-106830701 C>T_PCCEVHIGDVCLSPGHPDAINFDDS
10:34649179-34649179 T>G	1.0	3795	MELANOMA	-	-	-	-	PARD3	uc001ixu.2,p.E515D|uc010qep.2,p.E515D|uc001ixq.2,p.E559D|ENST00000374794,p.E515D|uc010qeo.2,p.E559D|ENST00000545260,p.E515D|ENST00000545693,p.E559D|NM_001184789,p.E559D|NM_001184794,p.E559D|ENST00000374776,p.E559D|ENST00000544292,p.E289D|uc010qem.2,p.E559D|NM_001184791,p.E515D|ENST00000374790,p.E515D|NM_001184790,p.E515D|uc001ixo.2,p.E289D|ENST00000350537,p.E559D|NM_001184788,p.E559D|uc010qen.2,p.E559D|NM_001184786,p.E559D|uc010qeq.2,p.E515D	protein_coding, processed_transcript	uc010qeq.2	nonsynonymous SNV	exon11	c.A1545C	p.E515D	QEDAFHPRELKAEDEDIVLTPDGTR	QEDAFHPRELKADDEDIVLTPDGTR	9.0	9.0	-	-	3795_10:34649179-34649179 T>G_QEDAFHPRELKADDEDIVLTPDGTR
17:19561171-19561171 T>G	0.0	3795	MELANOMA	-	-	-	-	ALDH3A2	uc010cqr.1,p.V72G|ENST00000176643,p.V265G|ENST00000579855,p.V265G|ENST00000571537,p.V96G|ENST00000581518,p.V265G|uc002gwb.1,p.V265G|uc002gwa.1,p.V265G|ENST00000339618,p.V265G|uc002gwd.1,p.V72G|ENST00000582991,p.V265G|NM_001031806,p.V265G|ENST00000395575,p.V265G|NM_000382,p.V265G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cqr.1	nonsynonymous SNV	exon6	c.T215G	p.V72G	LQNQIVWKIKETVKEFYGENIKESP	LQNQIVWKIKETGKEFYGENIKESP	8.0	9.0	unscreened	-	3795_17:19561171-19561171 T>G_LQNQIVWKIKETGKEFYGENIKESP
20:33519193-33519193 C>T	1.0	3795	MELANOMA	-	-	-	-	GSS	uc010gez.1,p.E83K|ENST00000541098,p.E225K|ENST00000451957,p.E242K|uc010zuo.2,p.E242K|ENST00000216951,p.E353K|uc002xbg.3,p.E353K|uc010zup.2,p.E284K|uc010zun.2,p.E225K|NM_000178,p.E353K	protein_coding	uc010zup.2	nonsynonymous SNV	exon11	c.G850A	p.E284K	LDVGEEGDQAIAEALAAPSRFVLKP	LDVGEEGDQAIAKALAAPSRFVLKP	8.0	5.0	-	-	3795_20:33519193-33519193 C>T_LDVGEEGDQAIAKALAAPSRFVLKP
13:25021263-25021263 T>C	0.0	3795	MELANOMA	-	-	-	-	PARP4	uc001upl.3,p.Q1059R|NM_006437,p.Q1059R|ENST00000381989,p.Q1059R	retained_intron, protein_coding, processed_transcript	uc001upl.3	nonsynonymous SNV	exon26	c.A3176G	p.Q1059R	CSPSCHSVSVKWQQLNPDVPEALQA	CSPSCHSVSVKWRQLNPDVPEALQA	8.0	1.0	-	-	3795_13:25021263-25021263 T>C_CSPSCHSVSVKWRQLNPDVPEALQA
20:3209321-3209321 G>A	0.0	3795	MELANOMA	-	-	-	-	SLC4A11	ENST00000380059,p.S785L|NM_001174089,p.S742L|ENST00000539553,p.S742L|uc010zqf.2,p.S742L|uc010zqe.2,p.S785L|NM_032034,p.S758L|NM_001174090,p.S785L|ENST00000380056,p.S758L|uc002wig.3,p.S758L	protein_coding, processed_transcript	uc010zqf.2	nonsynonymous SNV	exon18	c.C2225T	p.S742L	DTIVNVKETRLTSLGASVLVGLSLL	DTIVNVKETRLTLLGASVLVGLSLL	2.0	6.0	unscreened	-	3795_20:3209321-3209321 G>A_DTIVNVKETRLTLLGASVLVGLSLL
10:49392699-49392699 T>G	0.0	3795	MELANOMA	-	-	-	-	FRMPD2	NM_001018071,p.I832L|uc001jgh.3,p.I800L|ENST00000305531,p.I807L|ENST00000407470,p.I800L|uc001jgj.3,p.I801L|ENST00000374201,p.I832L|uc001jgi.3,p.I832L	retained_intron, protein_coding, processed_transcript	uc001jgj.3	nonsynonymous SNV	exon19	c.A2401C	p.I801L	IKPGGQILALNHISLEGFTFNMAVR	IKPGGQILALNHLSLEGFTFNMAVR	1.0	10.0	-	-	3795_10:49392699-49392699 T>G_IKPGGQILALNHLSLEGFTFNMAVR
11:30034119-30034119 G>A	0.0	3795	MELANOMA	-	-	-	-	KCNA4	uc001msk.3,p.S36F|ENST00000328224,p.S36F|uc021qfi.1,p.S36F|NM_002233,p.S36F	protein_coding, processed_transcript	uc021qfi.1	nonsynonymous SNV	exon1	c.C107T	p.S36F	QARARERERLAHSRAAAAAAVAAAT	QARARERERLAHFRAAAAAAVAAAT	2.0	10.0	-	-	3795_11:30034119-30034119 G>A_QARARERERLAHFRAAAAAAVAAAT
11:55944749-55944749 T>C	0.0	3795	MELANOMA	-	-	-	-	OR5J2	NM_001005492,p.I219T|ENST00000312298,p.I219T|uc010rjb.2,p.I219T	protein_coding	uc010rjb.2	nonsynonymous SNV	exon1	c.T656C	p.I219T	AMATFLTVIISYIFIAFASLRIHSA	AMATFLTVIISYTFIAFASLRIHSA	1.0	9.0	-	-	3795_11:55944749-55944749 T>C_AMATFLTVIISYTFIAFASLRIHSA
7:49977183-49977183 C>T	0.0	3795	MELANOMA	-	-	ID=COSM1698672;OCCURENCE=2(skin)	-	ZPBP	NM_001159878,p.G332R|uc003tou.3,p.G333R|uc010kyw.3,p.G332R|ENST00000419417,p.G332R|NM_007009,p.G333R|ENST00000046087,p.G333R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010kyw.3	nonsynonymous SNV	exon8	c.G994A	p.G332R	VICSPGSYNPRDGIHCLQCNSSLVY	VICSPGSYNPRDRIHCLQCNSSLVY	3.0	5.0	unscreened	-	3795_7:49977183-49977183 C>T_VICSPGSYNPRDRIHCLQCNSSLVY
11:134131235-134131235 A>C	0.0	3795	MELANOMA	-	-	-	-	ACAD8	ENST00000374752,p.K176T|NM_014384,p.K303T|uc001qhl.3,p.K176T|uc010scq.2,p.K226T|ENST00000281182,p.K303T|ENST00000537423,p.K226T|uc001qhk.3,p.K303T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010scq.2	nonsynonymous SNV	exon7	c.A677C	p.K226T	SVILTRDHLNVRKQFGEPLASNQYL	SVILTRDHLNVRTQFGEPLASNQYL	6.0	1.0	unscreened	-	3795_11:134131235-134131235 A>C_SVILTRDHLNVRTQFGEPLASNQYL
11:134131235-134131235 A>C	0.0	3795	MELANOMA	-	-	-	-	ACAD8	ENST00000543332,p.K205T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000543332	nonsynonymous SNV	exon7	c.A614C	p.K205T	SVILTRDHLNVRKQFGEPLASNQKK	SVILTRDHLNVRTQFGEPLASNQKK	6.0	1.0	-	-	3795_11:134131235-134131235 A>C_SVILTRDHLNVRTQFGEPLASNQKK
9:77377070-77377070 G>A	0.0	3795	MELANOMA	-	-	-	-	TRPM6	ENST00000449912,p.S1501L|ENST00000376864,p.S1506L|NM_017662,p.S1506L|ENST00000360774,p.S1506L|uc022bib.1,p.S1501L|uc004ajl.1,p.S1506L|ENST00000451710,p.S1506L|uc004ajk.1,p.S1501L|NM_001177311,p.S1501L|NM_001177310,p.S1501L|uc004ajj.1,p.S462L|ENST00000361255,p.S1501L	protein_coding, processed_transcript	uc022bib.1	nonsynonymous SNV	exon26	c.C4502T	p.S1501L	AQDSSLSDNSTRSAQSSECSEVGPW	AQDSSLSDNSTRLAQSSECSEVGPW	2.0	10.0	-	-	3795_9:77377070-77377070 G>A_AQDSSLSDNSTRLAQSSECSEVGPW
19:55048232-55048232 A>C	0.0	3795	MELANOMA	-	-	-	-	KIR3DX1	uc010erm.2,p.S34R|ENST00000335056,p.S267R|ENST00000221567,p.S267R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010erm.2	nonsynonymous SNV	exon1	c.A100C	p.S34R	LFRHGVAHGQWLSGGQRHREAFQAN	LFRHGVAHGQWLRGGQRHREAFQAN	1.0	1.0	unscreened	-	3795_19:55048232-55048232 A>C_LFRHGVAHGQWLRGGQRHREAFQAN
8:113275993-113275993 C>T	0.0	3795	MELANOMA	-	-	-	2	CSMD3	uc003yns.3,p.G2448E|ENST00000352409,p.G3176E|uc003ynt.3,p.G3206E|ENST00000343508,p.G3206E|ENST00000297405,p.G3246E|uc003ynu.3,p.G3246E|ENST00000455883,p.G3077E|ENST00000339701,p.G2516E|NM_052900,p.G3077E|NM_198124,p.G3206E|uc011lhx.2,p.G3077E|NM_198123,p.G3246E	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon59	c.G9230A	p.G3077E	PTPPQISNGRLEGTNFDWGFSISYI	PTPPQISNGRLEETNFDWGFSISYI	2.0	4.0	-	-	3795_8:113275993-113275993 C>T_PTPPQISNGRLEETNFDWGFSISYI
14:44974495-44974495 C>T	0.0	3795	MELANOMA	-	-	-	-	FSCB	NM_032135,p.G566R|uc001wvn.3,p.G566R|ENST00000340446,p.G566R	protein_coding	uc001wvn.3	nonsynonymous SNV	exon1	c.G1696A	p.G566R	EAPAEVQSPSAKGVSIEEAPLELQP	EAPAEVQSPSAKRVSIEEAPLELQP	1.0	8.0	-	-	3795_14:44974495-44974495 C>T_EAPAEVQSPSAKRVSIEEAPLELQP
5:140750281-140750281 A>T	0.0	3795	MELANOMA	-	-	-	-	PCDHGB3	NM_018924,p.E107V|ENST00000576222,p.E107V|uc003ljw.2,p.E107V|NM_032097,p.E107V|uc011dat.2,p.E107V	protein_coding	uc011dat.2	nonsynonymous SNV	exon1	c.A320T	p.E107V	ICGKKSTCVLEFEMVAEKPLNFFHV	ICGKKSTCVLEFVMVAEKPLNFFHV	3.0	10.0	-	-	3795_5:140750281-140750281 A>T_ICGKKSTCVLEFVMVAEKPLNFFHV
1:156622670-156622670 T>A	0.0	3795	MELANOMA	-	-	-	-	BCAN	ENST00000361588,p.V643E|NM_198427,p.V643E|uc001fpo.3,p.V643E	protein_coding, processed_transcript	uc001fpo.3	nonsynonymous SNV	exon8	c.T1928A	p.V643E	LPTDSASRGGVAVVPASGNSAQGST	LPTDSASRGGVAEVPASGNSAQGST	8.0	1.0	unscreened	-	3795_1:156622670-156622670 T>A_LPTDSASRGGVAEVPASGNSAQGST
7:86415913-86415913 G>A	0.0	3795	MELANOMA	-	-	-	2	GRM3	NM_000840,p.A269T|uc003uid.3,p.A269T|ENST00000361669,p.A269T|ENST00000394720,p.A267T|ENST00000439827,p.A269T|ENST00000454217,p.A141T|uc010lef.3,p.A267T|uc010leg.3,p.A141T|ENST00000536043,p.A141T	protein_coding	uc010leg.3	nonsynonymous SNV	exon2	c.G421A	p.A141T	DSVIRELLQKPNARVVVLFMRSDDS	DSVIRELLQKPNTRVVVLFMRSDDS	1.0	7.0	unscreened	-	3795_7:86415913-86415913 G>A_DSVIRELLQKPNTRVVVLFMRSDDS
1:27736627-27736627 G>A	1.0	3795	MELANOMA	-	-	-	-	WASF2	ENST00000430629,p.P300S|NM_006990,p.P300S|uc001bof.2,p.P300S	protein_coding	uc001bof.2	nonsynonymous SNV	exon8	c.C898T	p.P300S	GPKRSSVVSPSHPPPAPPLGSPPGP	GPKRSSVVSPSHSPPAPPLGSPPGP	10.0	3.0	unscreened	-	3795_1:27736627-27736627 G>A_GPKRSSVVSPSHSPPAPPLGSPPGP
2:170145605-170145605 G>A	0.0	3795	MELANOMA	-	-	-	-	LRP2	ENST00000443831,p.P325S|NM_004525,p.P325S|uc010zdf.1,p.P325S|uc002ues.3,p.P325S|ENST00000263816,p.P325S	retained_intron, protein_coding, processed_transcript	uc010zdf.1	nonsynonymous SNV	exon9	c.C973T	p.P325S	SALNCQYQCHETPYGGACFCPPGYI	SALNCQYQCHETSYGGACFCPPGYI	7.0	7.0	unscreened	-	3795_2:170145605-170145605 G>A_SALNCQYQCHETSYGGACFCPPGYI
1:39888448-39888448 G>A	1.0	3795	MELANOMA	-	-	-	-	MACF1	ENST00000372915,p.G5347E|ENST00000564288,p.G5342E|ENST00000317713,p.G3280E|ENST00000289893,p.G3782E|ENST00000567887,p.G5379E|uc031pmc.1,p.G3280E|ENST00000545844,p.G3280E|ENST00000361689,p.G3280E|NM_012090,p.G3280E|ENST00000539005,p.G3259E|uc001cdc.2,p.G3259E|uc001cda.1,p.G3167E|uc031pmd.1,p.G3782E|ENST00000482035,p.G96E|uc021olt.1,p.G3280E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pmd.1	nonsynonymous SNV	exon24	c.G11345A	p.G3782E	RIAQLQEALLHCGKFQDALEPLLSW	RIAQLQEALLHCEKFQDALEPLLSW	10.0	8.0	-	-	3795_1:39888448-39888448 G>A_RIAQLQEALLHCEKFQDALEPLLSW
4:4190595-4190595 G>C	0.0	3795	MELANOMA	-	rs2310687	-	-	OTOP1	ENST00000296358,p.P592A|NM_177998,p.P592A|uc003ghp.1,p.P592A	protein_coding	uc003ghp.1	nonsynonymous SNV	exon6	c.C1774G	p.P592A	FEPWIIVVNLAMPFSIFYRMHAAAS	FEPWIIVVNLAMAFSIFYRMHAAAS	1.0	2.0	unscreened	-	3795_4:4190595-4190595 G>C_FEPWIIVVNLAMAFSIFYRMHAAAS
19:1010404-1010404 C>T	1.0	3795	MELANOMA	-	-	-	-	TMEM259	NM_001033026,p.G603E|ENST00000593068,p.G340E|uc002lqr.1,p.G603E|ENST00000356663,p.G603E	retained_intron, protein_coding, processed_transcript	uc002lqr.1	nonsynonymous SNV	exon11	c.G1808A	p.G603E	ASDTTPLGAAVGGPSPASMAPTEAP	ASDTTPLGAAVGEPSPASMAPTEAP	10.0	4.0	-	-	3795_19:1010404-1010404 C>T_ASDTTPLGAAVGEPSPASMAPTEAP
1:156622670-156622670 T>A	0.0	3795	MELANOMA	-	-	-	-	BCAN	ENST00000329117,p.V643E|NM_021948,p.V643E|uc001fpp.3,p.V643E	protein_coding, processed_transcript	uc001fpp.3	nonsynonymous SNV	exon8	c.T1928A	p.V643E	LPTDSASRGGVAVVPASGDCVPSPC	LPTDSASRGGVAEVPASGDCVPSPC	8.0	1.0	-	-	3795_1:156622670-156622670 T>A_LPTDSASRGGVAEVPASGDCVPSPC
19:11687156-11687156 C>T	0.0	3795	MELANOMA	-	-	-	-	ACP5	NM_001111034,p.E213K|ENST00000412435,p.E213K|uc002msi.4,p.E213K|uc002msj.4,p.E213K|NM_001611,p.E213K|uc002msh.4,p.E213K|uc002msg.4,p.E213K|ENST00000592828,p.E213K|ENST00000433365,p.E213K|NM_001111035,p.E213K|NM_001111036,p.E213K|ENST00000218758,p.E213K	retained_intron, protein_coding	uc002msj.4	nonsynonymous SNV	exon5	c.G637A	p.E213K	LVAGHYPVWSIAEHGPTHCLVKQLR	LVAGHYPVWSIAKHGPTHCLVKQLR	9.0	4.0	unscreened	-	3795_19:11687156-11687156 C>T_LVAGHYPVWSIAKHGPTHCLVKQLR
2:96525717-96525717 ->T	0.0	3795	MELANOMA	-	-	ID=COSM1615237,COSM1615236,COSM1615238;OCCURENCE=1(liver)	-	LINC00342,FAHD2CP	uc002svb.1,p.L290fs|ENST00000456556,p.L1263fs|ENST00000419039,p.L290fs|ENST00000420871,p.L514fs|uc002suz.1,p.L290fs	retained_intron, protein_coding, nonsense_mediated_decay	uc002svb.1	frameshift insertion	exon33	c.868_869insA	p.L290fs	NHCEQLRVKIRKLKNKASVLQKRLS	NHCEQLRVKIRKHEK	9.0	1.0	unscreened	-	3795_2:96525717-96525717 ->T_NHCEQLRVKIRKHEK
19:14161608-14161608 C>T	0.0	3795	MELANOMA	0.0005	-	-	-	IL27RA	NM_004843,p.P481S|ENST00000263379,p.P481S|uc002mxx.4,p.P481S	protein_coding	uc002mxx.4	nonsynonymous SNV	exon11	c.C1441T	p.P481S	SGNTQSVTLPDLPWGPCELWVTAST	SGNTQSVTLPDLSWGPCELWVTAST	6.0	6.0	-	-	3795_19:14161608-14161608 C>T_SGNTQSVTLPDLSWGPCELWVTAST
9:84604718-84604718 G>A	0.0	3795	MELANOMA	-	-	-	-	SPATA31D1	ENST00000344803,p.R71K|NM_001001670,p.R71K|uc004amn.3,p.R71K	protein_coding	uc004amn.3	nonsynonymous SNV	exon2	c.G212A	p.R71K	DIQKHQGRAKRRRKGGTFKGFPDWK	DIQKHQGRAKRRKKGGTFKGFPDWK	1.0	1.0	-	-	3795_9:84604718-84604718 G>A_DIQKHQGRAKRRKKGGTFKGFPDWK
12:130898695-130898695 G>A	0.0	3795	MELANOMA	-	-	-	-	RIMBP2	NM_015347,p.P876L|ENST00000536632,p.P13L|uc001uil.2,p.P876L|ENST00000261655,p.P876L	retained_intron, protein_coding, nonsense_mediated_decay	uc001uil.2	nonsynonymous SNV	exon14	c.C2627T	p.P876L	MSPNPDAAEEELPFKEGQIIKVYGD	MSPNPDAAEEELLFKEGQIIKVYGD	1.0	9.0	unscreened	-	3795_12:130898695-130898695 G>A_MSPNPDAAEEELLFKEGQIIKVYGD
20:13251290-13251290 C>T	0.0	3795	MELANOMA	-	-	-	-	ISM1	uc010gce.1,p.P93L|ENST00000447521,p.P47L|NM_080826,p.P93L|ENST00000262487,p.P93L	protein_coding	uc010gce.1	nonsynonymous SNV	exon2	c.C278T	p.P93L	FPRPRFRQETGHPSLQRDFPRSFLL	FPRPRFRQETGHLSLQRDFPRSFLL	5.0	6.0	unscreened	-	3795_20:13251290-13251290 C>T_FPRPRFRQETGHLSLQRDFPRSFLL
1:176738893-176738893 T>C	0.0	3795	MELANOMA	-	-	-	-	PAPPA2	ENST00000367662,p.S1492P|NM_020318,p.S1492P|uc001gkz.3,p.S1492P	protein_coding, processed_transcript	uc001gkz.3	nonsynonymous SNV	exon16	c.T4474C	p.S1492P	SEGTKFLKRCSISCVPPAKLQGLSP	SEGTKFLKRCSIPCVPPAKLQGLSP	1.0	2.0	-	-	3795_1:176738893-176738893 T>C_SEGTKFLKRCSIPCVPPAKLQGLSP
6:128150684-128150684 G>A	0.0	3795	MELANOMA	-	-	-	-	THEMIS	ENST00000368248,p.P216S|ENST00000368250,p.P137S|ENST00000543064,p.P216S|uc011ebt.2,p.P216S|NM_001010923,p.P216S|uc010kfb.3,p.P181S|uc010kfa.3,p.P119S|NM_001164685,p.P216S|ENST00000537166,p.P181S|uc021zfa.1,p.P216S|NM_001164687,p.P181S	protein_coding	uc021zfa.1	nonsynonymous SNV	exon3	c.C646T	p.P216S	DFSNKWDSTNPFPKDFYGTLILKPV	DFSNKWDSTNPFSKDFYGTLILKPV	1.0	3.0	unscreened	-	3795_6:128150684-128150684 G>A_DFSNKWDSTNPFSKDFYGTLILKPV
19:57642524-57642524 T>G	0.0	3795	MELANOMA	-	-	-	-	USP29	ENST00000254181,p.S827R|ENST00000598197,p.S827R|NM_020903,p.S827R|uc021vci.1,p.S827R|uc002qny.3,p.S827R	protein_coding	uc021vci.1	nonsynonymous SNV	exon1	c.T2481G	p.S827R	KMGDPLQAYRLISVVSHIGSSPNSG	KMGDPLQAYRLIRVVSHIGSSPNSG	1.0	7.0	unscreened	-	3795_19:57642524-57642524 T>G_KMGDPLQAYRLIRVVSHIGSSPNSG
9:75533732-75533732 T>C	1.0	3795	MELANOMA	-	-	-	-	ALDH1A1	uc011lsg.2,p.K78E|uc011lsh.2,p.K173E|NM_000689,p.K252E|uc004ajd.3,p.K252E|ENST00000297785,p.K252E	protein_coding, processed_transcript	uc011lsh.2	nonsynonymous SNV	exon8	c.A517G	p.K173E	DKVAFTGSTEVGKLIKEAAGKSNLK	DKVAFTGSTEVGELIKEAAGKSNLK	10.0	1.0	unscreened	-	3795_9:75533732-75533732 T>C_DKVAFTGSTEVGELIKEAAGKSNLK
5:163011-163011 G>A	0.0	3795	MELANOMA	-	-	-	-	PLEKHG4B	NM_052909,p.D586N|ENST00000283426,p.D586N|uc003jak.2,p.D586N	retained_intron, protein_coding	uc003jak.2	nonsynonymous SNV	exon11	c.G1756A	p.D586N	PHALGKPWASQQDLWLQYPQTRLRL	PHALGKPWASQQNLWLQYPQTRLRL	3.0	2.0	-	-	3795_5:163011-163011 G>A_PHALGKPWASQQNLWLQYPQTRLRL
4:123317478-123317478 C>T	0.0	3795	MELANOMA	-	-	-	-	ADAD1	ENST00000296513,p.R224C|uc003iep.3,p.R224C|NM_139243,p.R224C|uc003ieq.3,p.R206C|ENST00000439307,p.R224C|NM_001159295,p.R206C|ENST00000388724,p.R224C|NM_001159285,p.R224C|uc003ieo.3,p.R224C|ENST00000388725,p.R206C	retained_intron, protein_coding, processed_transcript	uc003ieq.3	nonsynonymous SNV	exon6	c.C616T	p.R206C	IVKERFNQLISNRSEYLKYSSSLAA	IVKERFNQLISNCSEYLKYSSSLAA	1.0	9.0	-	-	3795_4:123317478-123317478 C>T_IVKERFNQLISNCSEYLKYSSSLAA
7:131895727-131895727 G>A	0.0	3795	MELANOMA	-	-	-	-	PLXNA4	NM_020911,p.S758F|uc003vra.4,p.S758F|ENST00000359827,p.S758F|ENST00000321063,p.S758F	retained_intron, protein_coding	uc003vra.4	nonsynonymous SNV	exon10	c.C2273T	p.S758F	SEQRVPALRFNSSSVQCQNTSYSYE	SEQRVPALRFNSFSVQCQNTSYSYE	3.0	7.0	unscreened	-	3795_7:131895727-131895727 G>A_SEQRVPALRFNSFSVQCQNTSYSYE
2:74275079-74275079 C>A	0.0	3795	MELANOMA	-	-	-	-	TET3	uc002skb.5,p.P679T|ENST00000409262,p.P544T|ENST00000305799,p.P586T|uc031roi.1,p.P544T|uc010fez.3,p.P544T|NM_001287491,p.P679T	retained_intron, protein_coding	uc031roi.1	nonsynonymous SNV	exon1	c.C1630A	p.P544T	FAPSPSRDSLLPPTQEMRSPSPMTA	FAPSPSRDSLLPTTQEMRSPSPMTA	5.0	3.0	unscreened	-	3795_2:74275079-74275079 C>A_FAPSPSRDSLLPTTQEMRSPSPMTA
1:248737545-248737545 G>A	0.0	3795	MELANOMA	-	-	-	-	OR2T34	uc001iep.1,p.P172S|NM_001001821,p.P172S|ENST00000328782,p.P172S	protein_coding	uc001iep.1	nonsynonymous SNV	exon1	c.C514T	p.P172S	DGLLLTPITMSFPFCQSRKILSFFC	DGLLLTPITMSFSFCQSRKILSFFC	1.0	8.0	-	-	3795_1:248737545-248737545 G>A_DGLLLTPITMSFSFCQSRKILSFFC
11:123676147-123676147 C>T	0.0	3795	MELANOMA	-	-	-	-	OR6M1	NM_001005325,p.R304K|uc010rzz.2,p.R304K|ENST00000309154,p.R304K	protein_coding	uc010rzz.2	nonsynonymous SNV	exon1	c.G911A	p.R304K	EKVQEVLRETVNRIMTLIQRKT	EKVQEVLRETVNKIMTLIQRKT	1.0	10.0	-	-	3795_11:123676147-123676147 C>T_EKVQEVLRETVNKIMTLIQRKT
11:5013194-5013194 G>A	0.0	3795	MELANOMA	-	-	ID=COSM224389;OCCURENCE=1(skin)	-	MMP26	ENST00000380390,p.G199E|ENST00000300762,p.G199E|uc001lzv.3,p.G199E|NM_021801,p.G199E	protein_coding, processed_transcript	uc001lzv.3	nonsynonymous SNV	exon5	c.G596A	p.G199E	FDKNEHWSASDTGYNLFLVATHEIG	FDKNEHWSASDTEYNLFLVATHEIG	1.0	8.0	-	-	3795_11:5013194-5013194 G>A_FDKNEHWSASDTEYNLFLVATHEIG
6:118801049-118801049 C>A	0.0	3795	MELANOMA	-	-	-	-	CEP85L	ENST00000368491,p.M633I|ENST00000368488,p.M636I|uc003pxz.2,p.M633I|uc003pya.2,p.M636I|NM_001042475,p.M633I|NM_001178035,p.M636I	retained_intron, protein_coding, processed_transcript	uc003pya.2	nonsynonymous SNV	exon11	c.G1908T	p.M636I	KIIDSQQDEIDRMILEIQSMQGKLS	KIIDSQQDEIDRIILEIQSMQGKLS	7.0	6.0	unscreened	-	3795_6:118801049-118801049 C>A_KIIDSQQDEIDRIILEIQSMQGKLS
19:39292971-39292971 G>A	0.0	3795	MELANOMA	-	-	-	-	LGALS4	uc002ojg.3,p.P215L|NM_006149,p.P215L|ENST00000307751,p.P215L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ojg.3	nonsynonymous SNV	exon8	c.C644T	p.P215L	TARRTIIIKGYVPPTGKSFAINFKV	TARRTIIIKGYVLPTGKSFAINFKV	3.0	3.0	unscreened	-	3795_19:39292971-39292971 G>A_TARRTIIIKGYVLPTGKSFAINFKV
16:29808333-29808333 C>T	1.0	3795	MELANOMA	-	-	-	-	KIF22	ENST00000570173,p.P64S|ENST00000160827,p.P64S|NM_007317,p.P64S|uc002dts.4,p.P64S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dts.4	nonsynonymous SNV	exon2	c.C190T	p.P64S	PFVDGTAGASDPPCVRGMDSCSLEI	PFVDGTAGASDPSCVRGMDSCSLEI	9.0	5.0	-	-	3795_16:29808333-29808333 C>T_PFVDGTAGASDPSCVRGMDSCSLEI
4:175898357-175898357 G>A	0.0	3795	MELANOMA	-	-	-	-	ADAM29	ENST00000445694,p.E561K|NM_001278126,p.E561K|NM_001130705,p.E561K|uc031shw.1,p.E561K|ENST00000359240,p.E561K|NM_014269,p.E561K|uc010irr.3,p.E561K|ENST00000404450,p.E561K|uc011cki.2,p.E561K|uc031shv.1,p.E561K|ENST00000514159,p.E561K|uc003iud.3,p.E561K|uc021xuo.1,p.E561K|uc003iuc.3,p.E561K|uc031shu.1,p.E561K|NM_001278125,p.E561K|NM_001278127,p.E561K|NM_001130703,p.E561K|NM_001130704,p.E561K	retained_intron, protein_coding, processed_transcript	uc031shw.1	nonsynonymous SNV	exon2	c.G1681A	p.E561K	VQCGRIQCENVTEIPNMSDHTTVHW	VQCGRIQCENVTKIPNMSDHTTVHW	1.0	9.0	unscreened	-	3795_4:175898357-175898357 G>A_VQCGRIQCENVTKIPNMSDHTTVHW
21:32410599-32410599 C>T	0.0	3795	MELANOMA	-	-	-	-	KRTAP19-8	uc010glt.3,p.G55E|NM_001099219,p.G55E|ENST00000382822,p.G55E	protein_coding	uc010glt.3	nonsynonymous SNV	exon1	c.G164A	p.G55E	GYGFSCCRPLYYGGYGFSAFY	GYGFSCCRPLYYEGYGFSAFY	1.0	4.0	unscreened	-	3795_21:32410599-32410599 C>T_GYGFSCCRPLYYEGYGFSAFY
11:130332128-130332128 G>A	0.0	3795	MELANOMA	-	-	ID=COSM142233;OCCURENCE=1(skin)	-	ADAMTS15	NM_139055,p.D413N|uc010scd.2,p.D413N|ENST00000299164,p.D413N	protein_coding	uc010scd.2	nonsynonymous SNV	exon3	c.G1237A	p.D413N	NPWSACSAAIITDFLDSGHGDCLLD	NPWSACSAAIITNFLDSGHGDCLLD	5.0	8.0	-	-	3795_11:130332128-130332128 G>A_NPWSACSAAIITNFLDSGHGDCLLD
17:76450615-76450615 C>T	0.0	3795	MELANOMA	-	-	ID=COSM1710851;OCCURENCE=1(skin)	-	DNAH17	NM_173628,p.G3448E|uc010dhp.2,p.G3448E|ENST00000389840,p.G3434E|ENST00000585328,p.G3443E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dhp.2	nonsynonymous SNV	exon64	c.G10343A	p.G3448E	ERWPLIVDAQLQGIKWIKNKYRSEL	ERWPLIVDAQLQEIKWIKNKYRSEL	2.0	10.0	-	-	3795_17:76450615-76450615 C>T_ERWPLIVDAQLQEIKWIKNKYRSEL
6:54025383-54025383 G>A	0.0	3795	MELANOMA	-	-	ID=COSM1080368;OCCURENCE=1(endometrium)	-	MLIP	uc011dxa.2,p.D809N|NM_138569,p.D274N|NM_001281746,p.D798N|uc003pcf.2,p.D798N|ENST00000274897,p.D274N|ENST00000514921,p.D798N|ENST00000502396,p.D809N|NM_001281747,p.D809N|uc003pcg.4,p.D274N	protein_coding, processed_transcript	uc011dxa.2	nonsynonymous SNV	exon7	c.G2425A	p.D809N	EELCATIDKVLQDSLSMHSSDSPSR	EELCATIDKVLQNSLSMHSSDSPSR	7.0	3.0	unscreened	-	3795_6:54025383-54025383 G>A_EELCATIDKVLQNSLSMHSSDSPSR
6:33768933-33768933 G>A	0.0	3795	MELANOMA	-	-	-	-	MLN	uc011drn.1,p.S3F|NM_001184698,p.S3F|ENST00000430124,p.S3F|uc003ofg.1,p.S3F|ENST00000507738,p.S3F|NM_001040109,p.S3F|uc003off.1,p.S3F|ENST00000266003,p.S3F|NM_002418,p.S3F	protein_coding	uc011drn.1	nonsynonymous SNV	exon2	c.C8T	p.S3F	MVSRKAVAALLVVHV	MVFRKAVAALLVVHV	1.0	8.0	unscreened	-	3795_6:33768933-33768933 G>A_MVFRKAVAALLVVHV
12:97137828-97137828 C>T	0.0	3795	MELANOMA	-	-	-	-	CDK17,NEDD1	ENST00000524981,p.R981C|uc021rcc.1,p.R955C	-	uc021rcc.1	nonsynonymous SNV	exon22	c.C2863T	p.R955C	EQMLAFGETIEFRSSNTKYANPLQP	EQMLAFGETIEFCSSNTKYANPLQP	1.0	10.0	-	-	3795_12:97137828-97137828 C>T_EQMLAFGETIEFCSSNTKYANPLQP
12:6958355-6958355 C>T	1.0	3795	MELANOMA	-	-	-	-	CDCA3	NM_001297602,p.R195Q|ENST00000535406,p.R220Q|uc001qrg.2,p.R220Q|NM_031299,p.R220Q|ENST00000229265,p.R195Q|ENST00000538862,p.R220Q	retained_intron, protein_coding, processed_transcript	uc001qrg.2	nonsynonymous SNV	exon6	c.G659A	p.R220Q	NSPGTLTLRQGKRPSPLSENVSELK	NSPGTLTLRQGKQPSPLSENVSELK	7.0	9.0	-	-	3795_12:6958355-6958355 C>T_NSPGTLTLRQGKQPSPLSENVSELK
3:99513568-99513568 G>A	0.0	3795	MELANOMA	-	-	-	-	COL8A1	NM_020351,p.G275R|ENST00000273342,p.G275R|NM_001850,p.G275R|uc003dtg.2,p.G275R|uc003dti.1,p.G276R|uc003dth.2,p.G275R|ENST00000261037,p.G275R	protein_coding, processed_transcript	uc003dti.1	nonsynonymous SNV	exon3	c.G826A	p.G276R	PGPVGLPGVGKPGVTGFPGPQGPLG	PGPVGLPGVGKPRVTGFPGPQGPLG	8.0	2.0	unscreened	-	3795_3:99513568-99513568 G>A_PGPVGLPGVGKPRVTGFPGPQGPLG
1:157646527-157646527 T>A	0.0	3795	MELANOMA	-	-	-	1	FCRL4,FCRL3	uc001fqz.4,p.D735V|ENST00000368186,p.D735V	protein_coding, processed_transcript, nonsense_mediated_decay	uc001fqz.4	nonsynonymous SNV	exon16	c.A2204T	p.D735V	ENILNPRKNKVQDFPCLCNT	ENILNPRKNKVQVFPCLCNT	3.0	1.0	unscreened	-	3795_1:157646527-157646527 T>A_ENILNPRKNKVQVFPCLCNT
13:103392557-103392557 G>A	0.0	3795	MELANOMA	-	-	-	-	CCDC168	NM_001146197,p.S3497L|uc001vpm.3,p.S3497L	protein_coding,antisense	uc001vpm.3	nonsynonymous SNV	exon4	c.C10490T	p.S3497L	KYASLLFPKGMKSSDGVQVFDLISN	KYASLLFPKGMKLSDGVQVFDLISN	1.0	8.0	-	-	3795_13:103392557-103392557 G>A_KYASLLFPKGMKLSDGVQVFDLISN
17:38955779-38955779 C>T	0.0	3795	MELANOMA	-	-	-	-	KRT28	ENST00000306658,p.E123K|NM_181535,p.E123K|uc002hvh.1,p.E123K	protein_coding	uc002hvh.1	nonsynonymous SNV	exon1	c.G367A	p.E123K	NAELERKIKGWYEKYGPGSCRGLDH	NAELERKIKGWYKKYGPGSCRGLDH	1.0	10.0	-	-	3795_17:38955779-38955779 C>T_NAELERKIKGWYKKYGPGSCRGLDH
6:7565688-7565688 G>A	0.0	3795	MELANOMA	-	-	-	-	DSP	uc021yle.1,p.E292K|uc003mxq.1,p.E292K|uc003mxp.1,p.E292K|ENST00000379802,p.E292K|ENST00000418664,p.E292K|NM_004415,p.E292K|NM_001008844,p.E292K	retained_intron, protein_coding	uc021yle.1	nonsynonymous SNV	exon7	c.G874A	p.E292K	SREIMWINDCEEEELLYDWSDKNTN	SREIMWINDCEEKELLYDWSDKNTN	4.0	5.0	unscreened	-	3795_6:7565688-7565688 G>A_SREIMWINDCEEKELLYDWSDKNTN
10:1406016-1406016 C>T	0.0	3795	MELANOMA	-	-	-	-	ADARB2	NM_018702,p.G95D|ENST00000381312,p.G95D|uc009xhq.3,p.G95D	protein_coding, processed_transcript	uc009xhq.3	nonsynonymous SNV	exon3	c.G284A	p.G95D	PPSGDRARGGAPGAKRKRPLEEGNG	PPSGDRARGGAPDAKRKRPLEEGNG	1.0	10.0	-	-	3795_10:1406016-1406016 C>T_PPSGDRARGGAPDAKRKRPLEEGNG
3:74548826-74548826 G>A	0.0	3795	MELANOMA	-	-	-	-	CNTN3	NM_020872,p.P56S|uc003dpm.1,p.P56S|ENST00000263665,p.P56S	protein_coding, processed_transcript	uc003dpm.1	nonsynonymous SNV	exon2	c.C166T	p.P56S	KKITLHCEARGNPSPHYRWQLNGSD	KKITLHCEARGNSSPHYRWQLNGSD	3.0	3.0	unscreened	-	3795_3:74548826-74548826 G>A_KKITLHCEARGNSSPHYRWQLNGSD
4:145041720-145041720 A>G	0.0	3795	MELANOMA	-	rs7682260	-	-	GYPA	uc003ijp.4,p.L20S|ENST00000360771,p.L20S|ENST00000512064,p.L20S|uc010ioq.3,p.L20S|uc010ios.2,p.L20S|ENST00000503627,p.L20S|NM_002099,p.L20S|ENST00000504786,p.L20S|uc003ijo.4,p.L20S|uc031shj.1,p.L20S|uc003ijn.2,p.L20S	retained_intron, protein_coding, nonsense_mediated_decay	uc031shj.1	nonsynonymous SNV	exon2	c.T59C	p.L20S	VLLLSEIVSISALSTTEVAMHTSTS	VLLLSEIVSISASSTTEVAMHTSTS	1.0	1.0	unscreened	-	3795_4:145041720-145041720 A>G_VLLLSEIVSISASSTTEVAMHTSTS
1:17668612-17668612 A>G	0.0	3795	MELANOMA	-	-	-	-	PADI4	ENST00000375448,p.N276S|NM_012387,p.N276S|uc001baj.2,p.N276S|uc009vpc.2,p.N276S	protein_coding, processed_transcript	uc009vpc.2	nonsynonymous SNV	exon7	c.A827G	p.N276S	LITLTISLLDTSNLELPEAVVFQDS	LITLTISLLDTSSLELPEAVVFQDS	1.0	8.0	unscreened	-	3795_1:17668612-17668612 A>G_LITLTISLLDTSSLELPEAVVFQDS
8:92114977-92114977 C>T	0.0	3795	MELANOMA	-	-	-	-	LRRC69	uc010mal.1,p.P30S|ENST00000448384,p.P30S|ENST00000520099,p.P30S|uc003yev.1,p.P30S|ENST00000518304,p.P30S|ENST00000343709,p.P30S|NM_001129890,p.P30S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010mal.1	nonsynonymous SNV	exon1	c.C88T	p.P30S	IITLNGKKMTKMPSALGKLPGLKTL	IITLNGKKMTKMSSALGKLPGLKTL	7.0	6.0	unscreened	-	3795_8:92114977-92114977 C>T_IITLNGKKMTKMSSALGKLPGLKTL
1:35227318-35227318 G>A	0.0	3795	MELANOMA	-	-	-	-	GJB4	uc001bxw.4,p.D155N|NM_153212,p.D155N|ENST00000339480,p.D155N|uc001bxv.1,p.D155N	protein_coding	uc001bxw.4	nonsynonymous SNV	exon1	c.G463A	p.D155N	AGFLYIFHRLYKDYDMPRVVACSVE	AGFLYIFHRLYKNYDMPRVVACSVE	1.0	9.0	-	-	3795_1:35227318-35227318 G>A_AGFLYIFHRLYKNYDMPRVVACSVE
2:179451327-179451327 C>T	0.0	3795	MELANOMA	-	-	-	-	TTN	NM_133378,p.G18866E|ENST00000591111,p.G19793E|NM_003319,p.G12369E|NM_133432,p.G12494E|NM_001267550,p.G21434E|NM_001256850,p.G19793E|uc031rqc.1,p.G21434E|ENST00000589042,p.G21434E|NM_133437,p.G12561E|uc021vta.2,p.G12494E|ENST00000342175,p.G12561E|uc021vsy.2,p.G18866E|ENST00000460472,p.G12369E|ENST00000359218,p.G12494E|ENST00000342992,p.G18866E|uc021vtb.2,p.G12369E|uc021vsz.2,p.G12561E|uc031rqd.1,p.G19793E	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon258	c.G59378A	p.G19793E	KDLSLVVTGLKEGKKYKFRVAARNA	KDLSLVVTGLKEEKKYKFRVAARNA	9.0	5.0	unscreened	-	3795_2:179451327-179451327 C>T_KDLSLVVTGLKEEKKYKFRVAARNA
17:74004745-74004745 G>A	0.0	3795	MELANOMA	-	-	ID=COSM1710812;OCCURENCE=1(skin)	-	EVPL	NM_001988,p.S1514L|ENST00000301607,p.S1514L|uc010wst.1,p.S984L|uc002jqi.2,p.S1514L|ENST00000586740,p.S1536L|uc010wss.1,p.S1536L	retained_intron, protein_coding	uc010wst.1	nonsynonymous SNV	exon20	c.C2951T	p.S984L	LQVQIDVLQKAKSQEKTIYKEVIRV	LQVQIDVLQKAKLQEKTIYKEVIRV	1.0	10.0	-	-	3795_17:74004745-74004745 G>A_LQVQIDVLQKAKLQEKTIYKEVIRV
4:42964963-42964963 C>T	0.0	3795	MELANOMA	-	-	-	-	GRXCR1	ENST00000399770,p.R147C|uc003gwt.3,p.R147C|NM_001080476,p.R147C	protein_coding	uc003gwt.3	nonsynonymous SNV	exon2	c.C439T	p.R147C	EFDRVVIYTTCLRVVRTTFERCELV	EFDRVVIYTTCLCVVRTTFERCELV	1.0	9.0	unscreened	-	3795_4:42964963-42964963 C>T_EFDRVVIYTTCLCVVRTTFERCELV
19:18731282-18731282 C>T	0.0	3795	MELANOMA	-	-	-	-	TMEM59L	NM_012109,p.P322L|uc002njy.4,p.P322L|ENST00000600490,p.P322L|ENST00000262817,p.P322L	retained_intron, protein_coding	uc002njy.4	nonsynonymous SNV	exon8	c.C965T	p.P322L	FMMEPDWPLYPPPSHACEDSLPPYK	FMMEPDWPLYPPLSHACEDSLPPYK	5.0	7.0	unscreened	-	3795_19:18731282-18731282 C>T_FMMEPDWPLYPPLSHACEDSLPPYK
18:14105193-14105193 C>T	0.0	3795	MELANOMA	0.01	-	-	-	ZNF519	ENST00000590202,p.R449Q|uc002kst.2,p.R449Q|NM_145287,p.R449Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc002kst.2	nonsynonymous SNV	exon3	c.G1346A	p.R449Q	CGKAFNRGSHLTRHQRIHTGEKSFK	CGKAFNRGSHLTQHQRIHTGEKSFK	9.0	2.0	unscreened	-	3795_18:14105193-14105193 C>T_CGKAFNRGSHLTQHQRIHTGEKSFK
2:227966591-227966591 G>A	0.0	3795	MELANOMA	-	-	-	-	COL4A4	ENST00000329662,p.P322L|NM_000092,p.P322L|uc021vxr.1,p.P322L|ENST00000396625,p.P322L|uc021vxs.1,p.P322L	protein_coding	uc021vxs.1	nonsynonymous SNV	exon16	c.C965T	p.P322L	RGDPGSYGSPGFPGLKGELGLVGDP	RGDPGSYGSPGFLGLKGELGLVGDP	2.0	5.0	unscreened	-	3795_2:227966591-227966591 G>A_RGDPGSYGSPGFLGLKGELGLVGDP
11:6238868-6238868 G>A	0.0	3795	MELANOMA	-	-	-	-	FAM160A2	NM_001098794,p.R650C|uc001mck.4,p.R664C|uc001mcl.4,p.R650C|uc001mcm.2,p.R650C|NM_032127,p.R664C|ENST00000524416,p.R650C|ENST00000265978,p.R664C|ENST00000449352,p.R650C	protein_coding, processed_transcript	uc001mcm.2	nonsynonymous SNV	exon9	c.C1948T	p.R650C	VPGSWPEGAKKVRLVPKEGAGELLE	VPGSWPEGAKKVCLVPKEGAGELLE	8.0	10.0	-	-	3795_11:6238868-6238868 G>A_VPGSWPEGAKKVCLVPKEGAGELLE
11:107916992-107917034 CACAGGGATGTGCATGCAGTCTGTCTTTGGGATGATAAAGGCC>-	0.0	3795	MELANOMA	-	-	-	-	CUL5	NM_003478,p.S45fs|ENST00000393094,p.S45fs|ENST00000531427,p.S45fs|uc001pjv.3,p.S45fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001pjv.3	frameshift deletion	exon3	c.135_172del	p.S45fs	ESVTKQQWFDLFSDVHAVCLWDDKG	ESVTKQQWFDLFSSKNSSGFKRRYS	7.0	8.0	unscreened	-	3795_11:107916992-107917034 CACAGGGATGTGCATGCAGTCTGTCTTTGGGATGATAAAGGCC>-_ESVTKQQWFDLFSSKNSSGFKRRYS
17:43884433-43884433 G>A	0.0	3795	MELANOMA	-	-	-	-	CRHR1	NM_001145147,p.E31K|uc002ijn.3,p.E31K|ENST00000352855,p.E31K	retained_intron, protein_coding, nonsense_mediated_decay	uc002ijn.3	nonsynonymous SNV	exon2	c.G91A	p.E31K	NPVSASLQDQHCESLSLASNISDNG	NPVSASLQDQHCKSLSLASNISDNG	1.0	10.0	-	-	3795_17:43884433-43884433 G>A_NPVSASLQDQHCKSLSLASNISDNG
17:43884433-43884433 G>A	0.0	3795	MELANOMA	-	-	-	-	CRHR1	uc010dap.3,p.E31K|uc002ijm.3,p.E31K|NM_004382,p.E31K|NM_001145146,p.E31K|ENST00000347197,p.E31K|ENST00000314537,p.E31K|NM_001145148,p.E31K|ENST00000577353,p.E31K|uc010dar.3,p.E31K|ENST00000398285,p.E31K	retained_intron, protein_coding, nonsense_mediated_decay	uc010dar.3	nonsynonymous SNV	exon2	c.G91A	p.E31K	NPVSASLQDQHCESLSLASNISGLQ	NPVSASLQDQHCKSLSLASNISGLQ	1.0	10.0	unscreened	-	3795_17:43884433-43884433 G>A_NPVSASLQDQHCKSLSLASNISGLQ
16:23226491-23226491 G>A	0.0	3795	MELANOMA	-	-	ID=COSM3706944;OCCURENCE=1(liver)	-	SCNN1G	ENST00000300061,p.E551K|NM_001039,p.E551K|uc002dlm.1,p.E551K	protein_coding	uc002dlm.1	nonsynonymous SNV	exon13	c.G1651A	p.E551K	MSCSVVCVIEIIEVFFIDFFSIIAR	MSCSVVCVIEIIKVFFIDFFSIIAR	1.0	4.0	unscreened	-	3795_16:23226491-23226491 G>A_MSCSVVCVIEIIKVFFIDFFSIIAR
19:20807848-20807848 G>A	0.0	3795	MELANOMA	-	-	-	-	ZNF626	ENST00000601440,p.H279Y|uc002npc.1,p.H203Y|uc002npb.1,p.H279Y|NM_001076675,p.H279Y	protein_coding	uc002npc.1	nonsynonymous SNV	exon2	c.C607T	p.H203Y	MSSSTLSKHEIIHTEKKPYKCEECG	MSSSTLSKHEIIYTEKKPYKCEECG	2.0	4.0	unscreened	-	3795_19:20807848-20807848 G>A_MSSSTLSKHEIIYTEKKPYKCEECG
8:8234996-8234996 G>A	0.0	3795	MELANOMA	-	-	-	-	SGK223	uc003wsh.4,p.P308L|NM_001080826,p.P308L|ENST00000330777,p.P308L|ENST00000520004,p.P308L	protein_coding	uc003wsh.4	nonsynonymous SNV	exon2	c.C923T	p.P308L	GPAEQEKRGPSFPKECCSQGPTAHP	GPAEQEKRGPSFLKECCSQGPTAHP	5.0	4.0	unscreened	-	3795_8:8234996-8234996 G>A_GPAEQEKRGPSFLKECCSQGPTAHP
22:28193240-28193240 C>T	0.0	3795	MELANOMA	-	-	-	1	MN1	ENST00000302326,p.A1098T|uc003adj.3,p.A1098T|NM_002430,p.A1098T	protein_coding, processed_transcript, nonsense_mediated_decay	uc003adj.3	nonsynonymous SNV	exon1	c.G3292A	p.A1098T	PRGVGAGEHGPKAPPPALGLGIMSN	PRGVGAGEHGPKTPPPALGLGIMSN	4.0	2.0	-	-	3795_22:28193240-28193240 C>T_PRGVGAGEHGPKTPPPALGLGIMSN
18:56204273-56204273 G>A	0.0	3795	MELANOMA	-	-	-	-	ALPK2	uc002lhk.1,p.S380F|NM_052947,p.S1049F|uc002lhj.4,p.S1049F|ENST00000361673,p.S1049F	retained_intron, protein_coding, processed_transcript	uc002lhk.1	nonsynonymous SNV	exon1	c.C1139T	p.S380F	EERFPRASHEKVSQFPSQVQLDHIL	EERFPRASHEKVFQFPSQVQLDHIL	4.0	5.0	unscreened	-	3795_18:56204273-56204273 G>A_EERFPRASHEKVFQFPSQVQLDHIL
19:58189749-58189749 G>A	0.0	3795	MELANOMA	-	-	-	-	ZSCAN4	ENST00000318203,p.G260R|NM_152677,p.G260R|uc002qpu.3,p.G260R	protein_coding	uc002qpu.3	nonsynonymous SNV	exon5	c.G778A	p.G260R	LVTARSQEGSINGITFQGVPMVMGA	LVTARSQEGSINRITFQGVPMVMGA	1.0	4.0	unscreened	-	3795_19:58189749-58189749 G>A_LVTARSQEGSINRITFQGVPMVMGA
12:130898696-130898696 G>A	0.0	3795	MELANOMA	-	-	-	-	RIMBP2	NM_015347,p.P876S|uc001uil.2,p.P876S|ENST00000261655,p.P876S|ENST00000536632,p.P13S	retained_intron, protein_coding, nonsense_mediated_decay	uc001uil.2	nonsynonymous SNV	exon14	c.C2626T	p.P876S	MSPNPDAAEEELPFKEGQIIKVYGD	MSPNPDAAEEELSFKEGQIIKVYGD	1.0	9.0	unscreened	-	3795_12:130898696-130898696 G>A_MSPNPDAAEEELSFKEGQIIKVYGD
16:22122239-22122239 G>A	0.0	3795	MELANOMA	-	-	-	-	VWA3A	NM_173615,p.E205K|ENST00000389398,p.E205K|uc010vbq.2,p.E205K|ENST00000568328,p.E205K|uc010bxc.2,p.E192K	retained_intron, protein_coding, nonsense_mediated_decay	uc010vbq.2	nonsynonymous SNV	exon8	c.G613A	p.E205K	LMSLIDEQLSHKEKLFVLSFGTNAG	LMSLIDEQLSHKKKLFVLSFGTNAG	3.0	7.0	unscreened	-	3795_16:22122239-22122239 G>A_LMSLIDEQLSHKKKLFVLSFGTNAG
3:49723322-49723327 GCGCTG>-	0.0	3795	MELANOMA	-	rs71233013	ID=COSM1724580;OCCURENCE=1(NS)	-	MST1	NM_020998,p.406_407del|uc003cxg.3,p.406_407del|ENST00000449682,p.406_407del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003cxg.3	nonframeshift deletion	exon10	c.1216_1221del	p.406_407del	GTVSKTRKGVQCQRWSAETPHKPQF	GTVSKTRKGVQCWSAETPHKPQFTF	6.0	1.0	unscreened	-	3795_3:49723322-49723327 GCGCTG>-_GTVSKTRKGVQCWSAETPHKPQFTF
12:51685901-51685901 G>A	0.0	3795	MELANOMA	-	-	-	-	BIN2	ENST00000604560,p.S303F|uc010sng.2,p.S304F|NM_001290008,p.S330F|uc009zlz.3,p.S298F|ENST00000267012,p.S330F|NM_016293,p.S362F|uc001ryg.3,p.S330F|NM_001290009,p.S206F|NM_001290007,p.S304F|ENST00000544402,p.S304F|uc001ryh.3,p.S206F|ENST00000452142,p.S298F	protein_coding	uc010sng.2	nonsynonymous SNV	exon10	c.C911T	p.S304F	EEEIEKEGSEASSSEEDEPLPACNG	EEEIEKEGSEASFSEEDEPLPACNG	5.0	10.0	-	-	3795_12:51685901-51685901 G>A_EEEIEKEGSEASFSEEDEPLPACNG
5:160061526-160061526 C>T	0.0	3795	MELANOMA	-	-	-	-	ATP10B	uc003lym.1,p.D406N|NM_025153,p.D406N|uc003lyp.2,p.D406N|ENST00000520108,p.D14N|uc011deg.1,p.D450N|uc003lyo.2,p.D378N|ENST00000327245,p.D406N	retained_intron, protein_coding, processed_transcript	uc011deg.1	nonsynonymous SNV	exon10	c.G1348A	p.D450N	QVFFLSNDLDLYDEETDLSIQCRAL	QVFFLSNDLDLYNEETDLSIQCRAL	6.0	10.0	-	-	3795_5:160061526-160061526 C>T_QVFFLSNDLDLYNEETDLSIQCRAL
2:28865883-28865883 C>T	0.0	3795	MELANOMA	-	-	-	-	PLB1	uc002rmb.2,p.R1445W|ENST00000541605,p.R410W|ENST00000327757,p.R1445W|uc010ezj.2,p.R1434W|uc002rme.2,p.R410W|NM_001170585,p.R1434W|ENST00000422425,p.R1434W|NM_153021,p.R1445W	retained_intron, protein_coding, nonsense_mediated_decay	uc010ezj.2	nonsynonymous SNV	exon57	c.C4300T	p.R1434W	IGTVVWRCRRGGRREDPPMSLRTVA	IGTVVWRCRRGGWREDPPMSLRTVA	4.0	5.0	unscreened	-	3795_2:28865883-28865883 C>T_IGTVVWRCRRGGWREDPPMSLRTVA
1:53995550-53995550 G>A	0.0	3795	MELANOMA	-	-	-	-	GLIS1	uc001cvr.1,p.P291S|ENST00000312233,p.P291S|NM_147193,p.P291S	protein_coding	uc001cvr.1	nonsynonymous SNV	exon4	c.C871T	p.P291S	LKIHLRSHTGEKPYLCQHPGCQKAF	LKIHLRSHTGEKSYLCQHPGCQKAF	1.0	10.0	-	-	3795_1:53995550-53995550 G>A_LKIHLRSHTGEKSYLCQHPGCQKAF
X:152018816-152018816 G>A	0.0	3795	MELANOMA	-	-	-	-	NSDHL	uc004fgt.1,p.R39K|ENST00000370274,p.R39K|uc004fgs.1,p.R39K|NM_001129765,p.R39K|NM_015922,p.R39K|ENST00000440023,p.R39K|ENST00000432467,p.R39K	protein_coding	uc004fgt.1	nonsynonymous SNV	exon4	c.G116A	p.R39K	ADIEKVNQNQAKRCTVIGGSGFLGQ	ADIEKVNQNQAKKCTVIGGSGFLGQ	7.0	3.0	unscreened	-	3795_X:152018816-152018816 G>A_ADIEKVNQNQAKKCTVIGGSGFLGQ
14:24901441-24901441 C>T	0.0	3795	MELANOMA	-	-	-	-	KHNYN	ENST00000556842,p.P325L|uc010alw.3,p.P325L|ENST00000553935,p.P325L|ENST00000251343,p.P325L|NM_001290257,p.P325L|NM_001290256,p.P366L|NM_015299,p.P325L|uc010tpc.2,p.P366L|uc001wph.4,p.P325L	retained_intron, protein_coding	uc010tpc.2	nonsynonymous SNV	exon3	c.C1097T	p.P366L	ALGGGGFCVHREPPGAHGSCHRAAQ	ALGGGGFCVHRELPGAHGSCHRAAQ	8.0	3.0	unscreened	-	3795_14:24901441-24901441 C>T_ALGGGGFCVHRELPGAHGSCHRAAQ
5:80382676-80382676 G>A	0.0	3795	MELANOMA	-	-	-	-	RASGRF2	NM_006909,p.D432N|uc003kha.2,p.D432N|uc003khb.1,p.D260N|ENST00000503795,p.D432N|ENST00000265080,p.D432N	protein_coding, processed_transcript, nonsense_mediated_decay	uc003khb.1	nonsynonymous SNV	exon6	c.G778A	p.D260N	EELSRVMHDEVSDTENIRKNLAIER	EELSRVMHDEVSNTENIRKNLAIER	4.0	10.0	-	-	3795_5:80382676-80382676 G>A_EELSRVMHDEVSNTENIRKNLAIER
3:102175092-102175092 G>A	0.0	3795	MELANOMA	-	-	ID=COSM110357;OCCURENCE=1(skin)	-	ZPLD1	uc003dvs.1,p.G128E|NM_175056,p.G144E|ENST00000306176,p.G144E|ENST00000491959,p.G128E|uc003dvt.1,p.G144E|uc011bhg.1,p.G128E|ENST00000466937,p.G128E	protein_coding, processed_transcript	uc011bhg.1	nonsynonymous SNV	exon5	c.G383A	p.G128E	VSAYGNATSVQVGNISGYIDTPDPP	VSAYGNATSVQVENISGYIDTPDPP	1.0	8.0	-	-	3795_3:102175092-102175092 G>A_VSAYGNATSVQVENISGYIDTPDPP
22:30887938-30887938 G>A	0.0	3795	MELANOMA	-	-	-	-	SEC14L4	uc011akz.1,p.P265L|NM_174977,p.P265L|uc003aid.2,p.P265L|NM_001161368,p.P265L|uc003aif.2,p.P211L|ENST00000255858,p.P265L|ENST00000392772,p.P211L|ENST00000381982,p.P265L|uc003aie.2,p.P250L|ENST00000540456,p.P250L	protein_coding, nonsense_mediated_decay	uc011akz.1	nonsynonymous SNV	exon10	c.C794T	p.P265L	KCLTKINYGGEVPKSYYLCEQVRLQ	KCLTKINYGGEVLKSYYLCEQVRLQ	1.0	7.0	-	-	3795_22:30887938-30887938 G>A_KCLTKINYGGEVLKSYYLCEQVRLQ
19:7676661-7676661 C>A	0.0	3795	MELANOMA	-	-	-	-	CAMSAP3	uc002mgv.4,p.R428S|NM_001080429,p.R455S|NM_020902,p.R428S|uc002mgu.4,p.R455S|ENST00000160298,p.R428S|ENST00000446248,p.R455S	retained_intron, protein_coding	uc002mgv.4	nonsynonymous SNV	exon11	c.C1282A	p.R428S	DVDVVMGDPVLLRSVSSDSLGPPRP	DVDVVMGDPVLLSSVSSDSLGPPRP	4.0	1.0	-	-	3795_19:7676661-7676661 C>A_DVDVVMGDPVLLSSVSSDSLGPPRP
22:26177754-26177754 C>A	0.0	3795	MELANOMA	-	-	-	-	MYO18B	uc010guz.1,p.N636K|uc010guy.1,p.N636K|ENST00000539302,p.N755K|ENST00000335473,p.N755K|NM_032608,p.N755K|ENST00000536101,p.N755K|uc003abz.1,p.N755K|ENST00000407587,p.N755K|uc011akb.1,p.N268K|uc003aca.1,p.N636K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011akb.1	nonsynonymous SNV	exon6	c.C804A	p.N268K	KSRVARQPEGESNFLVFSQMLAGLD	KSRVARQPEGESKFLVFSQMLAGLD	2.0	1.0	-	-	3795_22:26177754-26177754 C>A_KSRVARQPEGESKFLVFSQMLAGLD
8:57221487-57221487 C>T	0.0	3795	MELANOMA	-	-	-	-	SDR16C5	uc010lyl.1,p.D145N|ENST00000303749,p.D189N|uc003xsy.1,p.D189N|uc010lyk.1,p.D189N|ENST00000522671,p.D189N|NM_138969,p.D189N|ENST00000396721,p.D145N	protein_coding	uc010lyl.1	nonsynonymous SNV	exon3	c.G433A	p.D145N	SSAGLSGVNGLADYCASKFAAFGFA	SSAGLSGVNGLANYCASKFAAFGFA	1.0	5.0	unscreened	-	3795_8:57221487-57221487 C>T_SSAGLSGVNGLANYCASKFAAFGFA
12:56088642-56088642 C>T	1.0	3795	MELANOMA	-	-	-	-	ITGA7	ENST00000553804,p.D710N|ENST00000452168,p.D613N|ENST00000347027,p.D700N|NM_001144997,p.D613N|NM_001144996,p.D710N|ENST00000257880,p.D750N|uc001shh.3,p.D710N|uc001shg.3,p.D706N|ENST00000555728,p.D750N|ENST00000257879,p.D706N|ENST00000394230,p.D710N|ENST00000394229,p.D706N|uc009znx.3,p.D587N|uc010sps.2,p.D613N|NM_002206,p.D706N	retained_intron, protein_coding, nonsense_mediated_decay	uc010sps.2	nonsynonymous SNV	exon15	c.G1837A	p.D613N	LPSDPAQPQADGDDAHEAQLLVMLP	LPSDPAQPQADGNDAHEAQLLVMLP	8.0	9.0	-	-	3795_12:56088642-56088642 C>T_LPSDPAQPQADGNDAHEAQLLVMLP
15:89401392-89401392 C>T	0.0	3795	MELANOMA	-	-	-	-	ACAN	uc010upp.1,p.P1859L|NM_013227,p.P1859L|ENST00000559004,p.P1859L|uc010upo.1,p.P1859L|ENST00000439576,p.P1859L|ENST00000561243,p.P1859L|ENST00000352105,p.P1859L|NM_001135,p.P1859L	retained_intron, protein_coding	uc010upp.1	nonsynonymous SNV	exon12	c.C5576T	p.P1859L	EEGLGSVELSGLPSGEADLSGKSGM	EEGLGSVELSGLLSGEADLSGKSGM	1.0	9.0	unscreened	-	3795_15:89401392-89401392 C>T_EEGLGSVELSGLLSGEADLSGKSGM
3:118942945-118942945 G>A	1.0	3795	MELANOMA	-	-	ID=COSM445350;OCCURENCE=1(breast)	-	B4GALT4	NM_003778,p.P212S|ENST00000467604,p.P212S|uc003ech.3,p.P212S|ENST00000359213,p.P212S|uc003eci.3,p.P212S|uc003ecg.3,p.P212S|uc003ece.1,p.P212S|ENST00000480814,p.P212S|ENST00000393765,p.P212S|uc011biy.2,p.P75S|NM_212543,p.P212S|ENST00000483209,p.P212S	protein_coding, processed_transcript, nonsense_mediated_decay	uc011biy.2	nonsynonymous SNV	exon4	c.C223T	p.P75S	ENDFNLYKCEEHPKHLVVGRNSTGY	ENDFNLYKCEEHSKHLVVGRNSTGY	8.0	3.0	-	-	3795_3:118942945-118942945 G>A_ENDFNLYKCEEHSKHLVVGRNSTGY
9:100777660-100777660 G>A	0.0	3795	MELANOMA	-	-	-	-	ANP32B	uc004aya.3,p.G235R|ENST00000339399,p.G235R|NM_006401,p.G235R	protein_coding, processed_transcript	uc004aya.3	nonsynonymous SNV	exon7	c.G703A	p.G235R	EDEDEDEEEEEGGKGEKRKRETDDE	EDEDEDEEEEEGRKGEKRKRETDDE	9.0	1.0	unscreened	-	3795_9:100777660-100777660 G>A_EDEDEDEEEEEGRKGEKRKRETDDE
16:70509364-70509364 C>T	0.0	3795	MELANOMA	-	-	-	-	FUK	ENST00000571514,p.T321I|ENST00000288078,p.T830I|uc002eyz.3,p.T321I|NM_145059,p.T830I|ENST00000498702,p.T135I|uc002eyy.3,p.T830I	retained_intron, protein_coding, nonsense_mediated_decay	uc002eyz.3	nonsynonymous SNV	exon11	c.C962T	p.T321I	LLRTFGGGFELHTWSELPHGSGLGT	LLRTFGGGFELHIWSELPHGSGLGT	7.0	4.0	unscreened	-	3795_16:70509364-70509364 C>T_LLRTFGGGFELHIWSELPHGSGLGT
11:12280054-12280054 C>T	0.0	3795	MELANOMA	-	-	-	-	MICAL2	NM_001282667,p.T814I|NM_001282664,p.T1040I|uc010rcj.2,p.T273I|ENST00000342902,p.T1040I|uc010rch.1,p.T871I|uc010rci.2,p.T1040I|NM_014632,p.T1061I|uc001mjz.3,p.T1061I|NM_001282663,p.T1061I|uc001mkc.3,p.T814I|uc001mkb.3,p.T835I|NM_001282666,p.T835I|ENST00000537344,p.T871I|ENST00000379612,p.T835I|ENST00000256194,p.T1061I|uc001mka.3,p.T1061I|NM_001282665,p.T871I|ENST00000527546,p.T871I|uc001mkd.3,p.T643I	retained_intron, protein_coding, processed_transcript	uc010rcj.2	nonsynonymous SNV	exon11	c.C818T	p.T273I	KFYCKPHFIHCKTNSKQRKRRAELK	KFYCKPHFIHCKINSKQRKRRAELK	6.0	10.0	-	-	3795_11:12280054-12280054 C>T_KFYCKPHFIHCKINSKQRKRRAELK
11:6424891-6424891 G>C	0.0	3795	MELANOMA	-	-	-	-	APBB1	NM_001257320,p.Q36E|ENST00000389906,p.Q295E|NM_145689,p.Q295E|uc031pyv.1,p.Q75E|uc009yfb.3,p.Q36E|ENST00000299402,p.Q295E|NM_001257326,p.Q36E|NM_001257319,p.Q75E|ENST00000530885,p.Q75E|ENST00000311051,p.Q295E|uc009yfa.3,p.Q36E|uc001mdb.2,p.Q295E|uc010rag.2,p.Q36E|uc001mdd.4,p.Q75E|uc031pyu.1,p.Q295E|NM_001257323,p.Q75E|ENST00000533407,p.Q36E|NM_001257321,p.Q36E|NM_001257325,p.Q60E|uc001mdc.1,p.Q295E|uc009yey.3,p.Q36E|uc031pyt.1,p.Q60E|NM_001164,p.Q295E|uc001mde.3,p.Q36E|uc010rah.2,p.Q36E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pyv.1	nonsynonymous SNV	exon2	c.C223G	p.Q75E	PGRASPSQGSSPQEESQLTWTGFAH	PGRASPSQGSSPEEESQLTWTGFAH	7.0	1.0	-	-	3795_11:6424891-6424891 G>C_PGRASPSQGSSPEEESQLTWTGFAH
19:56284105-56284105 G>A	0.0	3795	MELANOMA	-	-	-	-	RFPL4AL1	NM_001277397,p.G142S|ENST00000341750,p.G142S|uc031rnc.1,p.G142S	protein_coding	uc031rnc.1	nonsynonymous SNV	exon2	c.G424A	p.G142S	QAERFDTALCVLGTPRFTSGRHYWE	QAERFDTALCVLSTPRFTSGRHYWE	1.0	2.0	unscreened	-	3795_19:56284105-56284105 G>A_QAERFDTALCVLSTPRFTSGRHYWE
19:56274101-56274101 G>A	0.0	3795	MELANOMA	-	-	-	-	RFPL4A	uc010yge.2,p.G142S|NM_001145014,p.G142S|ENST00000434937,p.G142S	protein_coding	uc010yge.2	nonsynonymous SNV	exon3	c.G424A	p.G142S	QAERFDTALCVLGTPRFTSGRHYWE	QAERFDTALCVLSTPRFTSGRHYWE	1.0	2.0	unscreened	-	3795_19:56274101-56274101 G>A_QAERFDTALCVLSTPRFTSGRHYWE
20:23586482-23586482 C>T	0.0	3795	MELANOMA	-	-	-	-	CST9	ENST00000376971,p.R7K|uc002wtl.3,p.R7K|NM_001008693,p.R7K	protein_coding	uc002wtl.3	nonsynonymous SNV	exon1	c.G20A	p.R7K	MSSPQRRKAMPWALSLLLM	MSSPQRKKAMPWALSLLLM	1.0	7.0	unscreened	-	3795_20:23586482-23586482 C>T_MSSPQRKKAMPWALSLLLM
14:23530582-23530582 G>A	1.0	3795	MELANOMA	-	-	-	-	ACIN1	uc001wip.4,p.R417C|ENST00000338631,p.R448C|uc001wiq.4,p.R417C|uc001wis.4,p.R856C|NM_014977,p.R1175C|NM_001164817,p.R417C|uc001wir.4,p.R448C|NM_001164816,p.R448C|ENST00000557515,p.R416C|uc010tnj.2,p.R1135C|ENST00000555053,p.R1162C|ENST00000397341,p.R417C|ENST00000357481,p.R417C|ENST00000605057,p.R1117C|uc010akg.3,p.R1162C|ENST00000457657,p.R1135C|uc001wit.4,p.R1175C|NM_001164815,p.R1135C|NM_001164814,p.R1162C|ENST00000262710,p.R1175C	retained_intron, protein_coding, processed_transcript	uc010tnj.2	nonsynonymous SNV	exon16	c.C3403T	p.R1135C	REWDRDKVREGPRSRSRSRDRRRKE	REWDRDKVREGPCSRSRSRDRRRKE	10.0	3.0	-	-	3795_14:23530582-23530582 G>A_REWDRDKVREGPCSRSRSRDRRRKE
1:228465295-228465295 G>A	0.0	3795	MELANOMA	-	-	-	-	OBSCN	uc001hsq.2,p.E2657K|NM_001271223,p.E2657K|uc001hsp.2,p.E16K|ENST00000366706,p.E76K|ENST00000570156,p.E2657K	retained_intron, protein_coding, processed_transcript	uc001hsq.2	nonsynonymous SNV	exon29	c.G7969A	p.E2657K	DGATFSCEVSHDEVPGQWFWEGSKL	DGATFSCEVSHDKVPGQWFWEGSKL	7.0	6.0	-	-	3795_1:228465295-228465295 G>A_DGATFSCEVSHDKVPGQWFWEGSKL
X:35821158-35821158 A>T	0.0	3795	MELANOMA	-	-	-	-	MAGEB16	ENST00000399989,p.K282I|uc010ngt.1,p.K282I|ENST00000399985,p.K282I|NM_001099921,p.K282I|uc022bus.1,p.K282I|ENST00000399992,p.K314I|ENST00000399988,p.K282I|ENST00000399987,p.K282I	protein_coding	uc022bus.1	nonsynonymous SNV	exon1	c.A845T	p.K282I	PARYEFLWGPRAKAETSKMKVLEFV	PARYEFLWGPRAIAETSKMKVLEFV	1.0	7.0	unscreened	-	3795_X:35821158-35821158 A>T_PARYEFLWGPRAIAETSKMKVLEFV
1:27939744-27939744 C>T	0.0	3795	MELANOMA	-	-	-	-	FGR	NM_001042747,p.R456Q|NM_001042729,p.R456Q|uc001boj.3,p.R456Q|ENST00000374003,p.R456Q|ENST00000374004,p.R456Q|uc001bok.3,p.R456Q|uc001boi.3,p.R159Q|ENST00000399173,p.R456Q|uc001bom.3,p.R456Q|uc001bol.3,p.R456Q|ENST00000374005,p.R456Q|ENST00000545953,p.R390Q|NM_005248,p.R456Q	protein_coding, processed_transcript	uc001bom.3	nonsynonymous SNV	exon12	c.G1367A	p.R456Q	FGILLTELITKGRIPYPGMNKREVL	FGILLTELITKGQIPYPGMNKREVL	4.0	8.0	-	-	3795_1:27939744-27939744 C>T_FGILLTELITKGQIPYPGMNKREVL
18:61260106-61260106 G>A	0.0	3795	MELANOMA	-	-	-	-	SERPINB13	ENST00000269489,p.E125K|NM_012397,p.E125K|ENST00000344731,p.E125K|uc010xep.2,p.E134K|uc002ljc.3,p.E125K|ENST00000438844,p.E124K	retained_intron, protein_coding, nonsense_mediated_decay	uc010xep.2	nonsynonymous SNV	exon5	c.G400A	p.E134K	TYLFLQKYLDYVEKYYHASLEPVDF	TYLFLQKYLDYVKKYYHASLEPVDF	1.0	4.0	unscreened	-	3795_18:61260106-61260106 G>A_TYLFLQKYLDYVKKYYHASLEPVDF
2:179613212-179613212 C>T	0.0	3795	MELANOMA	-	-	-	-	TTN	NM_133379,p.E4639K|ENST00000360870,p.E4639K|uc002unb.3,p.E4639K	retained_intron, protein_coding	uc002unb.3	nonsynonymous SNV	exon46	c.G13915A	p.E4639K	DPALEFQGQETREQQEIHYKEKIPS	DPALEFQGQETRKQQEIHYKEKIPS	9.0	5.0	unscreened	-	3795_2:179613212-179613212 C>T_DPALEFQGQETRKQQEIHYKEKIPS
10:17085829-17085829 ->CCGGTATTCACACTTACTCTG	0.0	3795	MELANOMA	-	-	-	-	CUBN	uc001ioo.3,p.Q1276delinsQSKCEYRQ|ENST00000377833,p.Q1276delinsQSKCEYRQ|NM_001081,p.Q1276delinsQSKCEYRQ	protein_coding	uc001ioo.3	nonframeshift insertion	exon26	c.3825_3826insCAGAGTAAGTGTGAATACCGG	p.Q1276delinsQSKCEYRQ	GQQGRGFKAEYRQTCENVVIVNQTY	GQQGRGFKAEYRQSKCEYRQTCENV	4.0	1.0	unscreened	-	3795_10:17085829-17085829 ->CCGGTATTCACACTTACTCTG_GQQGRGFKAEYRQSKCEYRQTCENV
11:60468442-60468442 C>T	0.0	3795	MELANOMA	-	-	-	-	MS4A8	ENST00000300226,p.P37S|ENST00000529752,p.P37S|NM_031457,p.P37S|ENST00000532816,p.P37S|uc009yne.1,p.P37S|uc001npv.3,p.P37S	retained_intron, protein_coding, nonsense_mediated_decay	uc009yne.1	nonsynonymous SNV	exon2	c.C109T	p.P37S	VTPGIMSHVPLYPNSQPQVHLVPGN	VTPGIMSHVPLYSNSQPQVHLVPGN	3.0	9.0	-	-	3795_11:60468442-60468442 C>T_VTPGIMSHVPLYSNSQPQVHLVPGN
12:40836893-40836893 G>A	0.0	3795	MELANOMA	-	-	-	-	MUC19	ENST00000425730,p.E726K	retained_intron, protein_coding, processed_transcript	ENST00000425730	nonsynonymous SNV	exon26	c.G2176A	p.E726K	CQYSFLEDYCGHENGTFRILTESVP	CQYSFLEDYCGHKNGTFRILTESVP	2.0	9.0	-	-	3795_12:40836893-40836893 G>A_CQYSFLEDYCGHKNGTFRILTESVP
3:130377562-130377562 G>T	0.0	3795	MELANOMA	-	-	-	-	COL6A6	uc010htl.3,p.G1926W|NM_001102608,p.G1926W|ENST00000453409,p.G1926W|ENST00000358511,p.G1926W|uc003eni.4,p.G25W	protein_coding, nonsense_mediated_decay	uc010htl.3	nonsynonymous SNV	exon33	c.G5776T	p.G1926W	DTGTFQVIVVPSGADYIPALERLQR	DTGTFQVIVVPSWADYIPALERLQR	1.0	8.0	-	-	3795_3:130377562-130377562 G>T_DTGTFQVIVVPSWADYIPALERLQR
19:38894093-38894093 G>A	0.0	3795	MELANOMA	-	-	-	-	FAM98C	uc002oin.1,p.E61K|NM_174905,p.E61K|ENST00000252530,p.E61K|ENST00000343358,p.E61K|uc010xtz.1,p.E61K|ENST00000588262,p.E61K|uc002oio.1,p.E61K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xtz.1	nonsynonymous SNV	exon2	c.G181A	p.E61K	ELATLGALEQQREAGAEVLSAGDGP	ELATLGALEQQRKAGAEVLSAGDGP	6.0	5.0	unscreened	-	3795_19:38894093-38894093 G>A_ELATLGALEQQRKAGAEVLSAGDGP
14:100615847-100615847 C>A	0.0	3795	MELANOMA	-	-	-	-	DEGS2	uc001ygx.2,p.A95S|NM_206918,p.A95S|ENST00000305631,p.A95S	protein_coding, processed_transcript	uc001ygx.2	nonsynonymous SNV	exon2	c.G283T	p.A95S	SLTLAIHDISHNAAFGTGRAARNRW	SLTLAIHDISHNSAFGTGRAARNRW	1.0	1.0	unscreened	-	3795_14:100615847-100615847 C>A_SLTLAIHDISHNSAFGTGRAARNRW
20:29960693-29960693 C>T	0.0	3795	MELANOMA	-	-	-	-	DEFB118	ENST00000253381,p.S31L|uc002wvr.3,p.S31L|NM_054112,p.S31L	protein_coding	uc002wvr.3	nonsynonymous SNV	exon2	c.C92T	p.S31L	PAYSGEKKCWNRSGHCRKQCKDGEA	PAYSGEKKCWNRLGHCRKQCKDGEA	2.0	4.0	unscreened	-	3795_20:29960693-29960693 C>T_PAYSGEKKCWNRLGHCRKQCKDGEA
2:54482159-54482159 G>T	0.0	3795	MELANOMA	-	-	-	-	TSPYL6	uc002rxr.2,p.P377Q|ENST00000317802,p.P377Q|NM_001003937,p.P377Q	protein_coding	uc002rxr.2	nonsynonymous SNV	exon1	c.C1130A	p.P377Q	IAQIIKEDLWSNPLQYYLLGEDAHR	IAQIIKEDLWSNQLQYYLLGEDAHR	1.0	7.0	unscreened	-	3795_2:54482159-54482159 G>T_IAQIIKEDLWSNQLQYYLLGEDAHR
X:49086714-49086714 C>T	0.0	3795	MELANOMA	-	-	-	-	CACNA1F	uc004dnb.3,p.R262Q|ENST00000376265,p.R262Q|NM_001256789,p.R262Q|NM_005183,p.R262Q|ENST00000323022,p.R262Q|ENST00000376251,p.R197Q|uc031tjm.1,p.R197Q|NM_001256790,p.R197Q|uc010nip.3,p.R262Q	retained_intron, protein_coding, processed_transcript	uc031tjm.1	nonsynonymous SNV	exon6	c.G590A	p.R197Q	IYAIIGLELFLGRMHKTCYFLGSDM	IYAIIGLELFLGQMHKTCYFLGSDM	1.0	6.0	unscreened	-	3795_X:49086714-49086714 C>T_IYAIIGLELFLGQMHKTCYFLGSDM
1:228588765-228588765 ->G	0.0	3795	MELANOMA	-	-	-	-	TRIM11	ENST00000493030,p.R87fs|uc001hst.1,p.R212fs|NM_145214,p.R212fs|uc001hss.3,p.R212fs|ENST00000284551,p.R212fs|uc010pvx.2,p.R211fs|ENST00000366699,p.R212fs	protein_coding, processed_transcript	uc010pvx.2	frameshift insertion	exon3	c.631dupC	p.R211fs	LEEEELEVLPRLREGAAHLGQQSAH	LEEEELEVLPRLPGGRSPPRPAERPPS	7.0	2.0	-	-	3795_1:228588765-228588765 ->G_LEEEELEVLPRLPGGRSPPRPAERPPS
2:179477897-179477897 C>T	0.0	3795	MELANOMA	-	-	-	-	TTN	NM_001256850,p.D14906N|ENST00000460472,p.D7482N|NM_133437,p.D7674N|ENST00000589042,p.D16547N|ENST00000359218,p.D7607N|ENST00000342992,p.D13979N|uc021vsy.2,p.D13979N|uc031rqd.1,p.D14906N|NM_133432,p.D7607N|uc021vtb.2,p.D7482N|uc021vsz.2,p.D7674N|uc021vta.2,p.D7607N|NM_001267550,p.D16547N|NM_133378,p.D13979N|uc031rqc.1,p.D16547N|NM_003319,p.D7482N|ENST00000591111,p.D14906N|ENST00000342175,p.D7674N	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon214	c.G44716A	p.D14906N	KPSKSTEPILIKDPIDPPWPPGKPT	KPSKSTEPILIKNPIDPPWPPGKPT	9.0	6.0	unscreened	-	3795_2:179477897-179477897 C>T_KPSKSTEPILIKNPIDPPWPPGKPT
21:15558374-15558374 A>G	0.0	3795	MELANOMA	-	-	-	-	LIPI	uc021whh.1,p.L150P|uc002yjm.3,p.L171P|ENST00000536861,p.L150P|uc021whe.1,p.L150P|ENST00000344577,p.L171P|uc021whj.1,p.L150P|uc010gkw.2,p.L150P|uc021whf.1,p.L150P|NM_198996,p.L171P	protein_coding	uc021whj.1	nonsynonymous SNV	exon3	c.T449C	p.L150P	VHIKNLLKHGASLDNFHFIGVSLGA	VHIKNLLKHGASPDNFHFIGVSLGA	1.0	2.0	-	-	3795_21:15558374-15558374 A>G_VHIKNLLKHGASPDNFHFIGVSLGA
19:13441067-13441067 C>T	0.0	3795	MELANOMA	-	-	-	-	CACNA1A	ENST00000573710,p.A447T|uc021upt.1,p.A447T|uc002mwy.3,p.A446T|NM_001127221,p.A447T|NM_001127222,p.A446T|ENST00000360228,p.A446T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021upt.1	nonsynonymous SNV	exon10	c.G1339A	p.A447T	NPEEAEDQLADIASVGSPFARASIK	NPEEAEDQLADITSVGSPFARASIK	3.0	7.0	unscreened	-	3795_19:13441067-13441067 C>T_NPEEAEDQLADITSVGSPFARASIK
X:15307743-15307743 C>T	0.0	3795	MELANOMA	-	-	-	-	ASB11	uc004cwo.2,p.E159K|NM_001201583,p.E163K|NM_001012428,p.E159K|ENST00000480796,p.E180K|uc010net.2,p.E163K|ENST00000537676,p.E159K|ENST00000380470,p.E163K|ENST00000344384,p.E159K|NM_080873,p.E180K|uc004cwp.2,p.E180K	protein_coding, nonsense_mediated_decay	uc010net.2	nonsynonymous SNV	exon5	c.G487A	p.E163K	HEAVKRGHRECMEILLANNVNIDHE	HEAVKRGHRECMKILLANNVNIDHE	2.0	7.0	unscreened	-	3795_X:15307743-15307743 C>T_HEAVKRGHRECMKILLANNVNIDHE
17:7752203-7752203 C>T	0.0	3795	MELANOMA	-	-	-	-	KDM6B	uc002giw.1,p.S866F|uc002gix.3,p.S168F|ENST00000254846,p.S866F|NM_001080424,p.S866F|ENST00000448097,p.S866F	protein_coding, processed_transcript	uc002gix.3	nonsynonymous SNV	exon1	c.C503T	p.S168F	APSAQGSPQPSASSSSQFSTSGGPW	APSAQGSPQPSAFSSSQFSTSGGPW	6.0	9.0	unscreened	-	3795_17:7752203-7752203 C>T_APSAQGSPQPSAFSSSQFSTSGGPW
15:31795899-31795899 C>T	0.0	3795	MELANOMA	-	-	-	-	OTUD7A	ENST00000307050,p.G332E|uc001zfr.3,p.G339E|uc001zfq.3,p.G332E|NM_130901,p.G332E|ENST00000382902,p.G339E	retained_intron, protein_coding, nonsense_mediated_decay	uc001zfr.3	nonsynonymous SNV	exon9	c.G1016A	p.G339E	VVVADTMLRDSGGEAFAPIPFGGIY	VVVADTMLRDSGEEAFAPIPFGGIY	1.0	9.0	unscreened	-	3795_15:31795899-31795899 C>T_VVVADTMLRDSGEEAFAPIPFGGIY
19:55525490-55525490 G>A	0.0	3795	MELANOMA	-	-	-	-	GP6	ENST00000310373,p.S608L|uc002qil.3,p.S608L|NM_001083899,p.S608L	retained_intron, protein_coding	uc002qil.3	nonsynonymous SNV	exon8	c.C1823T	p.S608L	CTLARVTKPDFVSKNTGMNMSITLI	CTLARVTKPDFVLKNTGMNMSITLI	1.0	5.0	unscreened	-	3795_19:55525490-55525490 G>A_CTLARVTKPDFVLKNTGMNMSITLI
9:100777657-100777657 G>A	0.0	3795	MELANOMA	-	-	-	-	ANP32B	uc004aya.3,p.G234S|NM_006401,p.G234S|ENST00000339399,p.G234S	protein_coding, processed_transcript	uc004aya.3	nonsynonymous SNV	exon7	c.G700A	p.G234S	DEDEDEDEEEEEGGKGEKRKRETDD	DEDEDEDEEEEESGKGEKRKRETDD	9.0	1.0	unscreened	-	3795_9:100777657-100777657 G>A_DEDEDEDEEEEESGKGEKRKRETDD
3:10443819-10443819 G>A	0.0	3795	MELANOMA	-	-	-	-	ATP2B2	ENST00000383800,p.P204L|ENST00000352432,p.P204L|ENST00000452124,p.P91L|ENST00000360273,p.P204L|ENST00000460129,p.P204L|uc003bvw.3,p.P204L|uc003bvt.3,p.P204L|NM_001683,p.P204L|uc003bvv.3,p.P204L|ENST00000397077,p.P204L|NM_001001331,p.P204L|uc010hdp.2,p.P204L|ENST00000343816,p.P204L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hdp.2	nonsynonymous SNV	exon4	c.C611T	p.P204L	FTVVRAGQVVQIPVAEIVVGDIAQV	FTVVRAGQVVQILVAEIVVGDIAQV	2.0	3.0	unscreened	-	3795_3:10443819-10443819 G>A_FTVVRAGQVVQILVAEIVVGDIAQV
5:175665522-175665522 T>A	0.0	3795	MELANOMA	-	-	-	-	SIMC1	NM_198567,p.F4Y|ENST00000430704,p.F4Y|ENST00000429602,p.F4Y|uc011dfk.1,p.F4Y|uc003mdt.4,p.F4Y|ENST00000341199,p.F4Y	retained_intron, protein_coding, processed_transcript	uc011dfk.1	nonsynonymous SNV	exon1	c.T11A	p.F4Y	MEDFIVISDDSGSESS	MEDYIVISDDSGSESS	7.0	1.0	unscreened	-	3795_5:175665522-175665522 T>A_MEDYIVISDDSGSESS
10:19620486-19620486 T>A	0.0	3795	MELANOMA	-	-	-	-	MALRD1	ENST00000377266,p.N601K|NM_001142308,p.N1292K|ENST00000454679,p.N588K	protein_coding, processed_transcript	NM_001142308	nonsynonymous SNV	exon24	c.T3876A	p.N1292K	DKLCDFVNDCADNSDETTFICRTSS	DKLCDFVNDCADKSDETTFICRTSS	1.0	9.0	-	-	3795_10:19620486-19620486 T>A_DKLCDFVNDCADKSDETTFICRTSS
9:73240246-73240246 C>T	0.0	3795	MELANOMA	-	-	-	-	TRPM3	NM_206947,p.G417E|NM_206944,p.G392E|NM_206946,p.G417E|ENST00000396292,p.G417E|ENST00000358082,p.G417E|uc004aid.3,p.G545E|uc004ahw.3,p.G417E|ENST00000377110,p.G545E|ENST00000396285,p.G392E|NM_020952,p.G392E|uc004ahv.3,p.G357E|ENST00000423814,p.G572E|uc004aic.3,p.G545E|NM_001007471,p.G545E|uc004aia.3,p.G392E|uc004ahu.3,p.G375E|uc004aib.3,p.G392E|uc004ahy.3,p.G417E|ENST00000377111,p.G545E|ENST00000360823,p.G417E|ENST00000377106,p.G417E	retained_intron, protein_coding, processed_transcript	uc004aid.3	nonsynonymous SNV	exon13	c.G1634A	p.G545E	NTLYHLVRDVKKGNLPPDYRISLID	NTLYHLVRDVKKENLPPDYRISLID	5.0	9.0	unscreened	-	3795_9:73240246-73240246 C>T_NTLYHLVRDVKKENLPPDYRISLID
5:160763732-160763732 C>T	0.0	3795	MELANOMA	-	-	ID=COSM3736669,COSM3736670;OCCURENCE=1(skin)	-	GABRB2	NM_021911,p.D196N|uc003lys.1,p.D196N|ENST00000393959,p.D196N|uc003lyr.1,p.D196N|ENST00000517901,p.D133N|ENST00000520240,p.D196N|ENST00000517547,p.D36N|ENST00000274547,p.D196N|uc021yhg.1,p.D133N|ENST00000353437,p.D196N|uc011deh.1,p.D35N|uc003lyt.1,p.D196N|NM_000813,p.D196N	retained_intron, protein_coding, processed_transcript	uc021yhg.1	nonsynonymous SNV	exon5	c.G397A	p.D133N	TTDDIEFYWRGDDNAVTGVTKIELP	TTDDIEFYWRGDNNAVTGVTKIELP	1.0	9.0	unscreened	-	3795_5:160763732-160763732 C>T_TTDDIEFYWRGDNNAVTGVTKIELP
9:107379672-107379672 C>T	0.0	3795	MELANOMA	-	-	-	-	OR13C9	uc011lvr.2,p.D272N|ENST00000259362,p.D272N|NM_001001956,p.D272N	protein_coding	uc011lvr.2	nonsynonymous SNV	exon1	c.G814A	p.D272N	MKPKSKETLNSDDLDATDKIISMFY	MKPKSKETLNSDNLDATDKIISMFY	1.0	9.0	unscreened	-	3795_9:107379672-107379672 C>T_MKPKSKETLNSDNLDATDKIISMFY
X:107083902-107083902 G>A	0.0	3795	MELANOMA	-	-	-	-	MID2	NM_012216,p.E3K|uc004enl.3,p.E3K|ENST00000262843,p.E3K|NM_052817,p.E3K|ENST00000443968,p.E3K|uc004enk.3,p.E3K	retained_intron, protein_coding	uc004enl.3	nonsynonymous SNV	exon2	c.G7A	p.E3K	MGESPASVVLNASGG	MGKSPASVVLNASGG	7.0	6.0	unscreened	-	3795_X:107083902-107083902 G>A_MGKSPASVVLNASGG
1:234454623-234454623 G>A	0.0	3795	MELANOMA	-	-	-	-	SLC35F3	NM_173508,p.E361K|NM_001300845,p.E292K|ENST00000366618,p.E361K|uc001hvy.1,p.E361K|ENST00000366617,p.E292K|uc001hwa.1,p.E292K	protein_coding	uc001hwa.1	nonsynonymous SNV	exon5	c.G874A	p.E292K	TCIPIILYFTKVEYWSSFDDIPWGN	TCIPIILYFTKVKYWSSFDDIPWGN	3.0	8.0	-	-	3795_1:234454623-234454623 G>A_TCIPIILYFTKVKYWSSFDDIPWGN
13:45563349-45563349 G>A	0.0	3795	MELANOMA	-	-	-	-	NUFIP1	uc001uzp.2,p.P75S|NM_012345,p.P75S|ENST00000379161,p.P75S	protein_coding	uc001uzp.2	nonsynonymous SNV	exon1	c.C223T	p.P75S	SESQPPMEAQSLPGAPPPFDAQILP	SESQPPMEAQSLSGAPPPFDAQILP	6.0	8.0	unscreened	-	3795_13:45563349-45563349 G>A_SESQPPMEAQSLSGAPPPFDAQILP
9:125281429-125281429 G>A	0.0	3795	MELANOMA	-	-	-	-	OR1J4	NM_001004452,p.E4K|uc011lyw.2,p.E4K|ENST00000340750,p.E4K	protein_coding	uc011lyw.2	nonsynonymous SNV	exon1	c.G10A	p.E4K	MKRENQSSVSEFLLLD	MKRKNQSSVSEFLLLD	1.0	9.0	-	-	3795_9:125281429-125281429 G>A_MKRKNQSSVSEFLLLD
17:66985229-66985229 C>T	0.0	3795	MELANOMA	-	-	-	-	ABCA9	NM_080283,p.G1329E|ENST00000370732,p.G1329E|ENST00000340001,p.G1329E|ENST00000453985,p.G1291E|uc002jhu.3,p.G1329E|uc010dez.3,p.G1291E	retained_intron, protein_coding, processed_transcript	uc010dez.3	nonsynonymous SNV	exon29	c.G3872A	p.G1291E	KKGEVIGLLGHNGAGKSTTIKMITG	KKGEVIGLLGHNEAGKSTTIKMITG	5.0	9.0	-	-	3795_17:66985229-66985229 C>T_KKGEVIGLLGHNEAGKSTTIKMITG
1:92647180-92647180 G>A	0.0	3795	MELANOMA	-	-	-	-	KIAA1107	uc001dop.3,p.D801N|NM_015237,p.D876N|ENST00000409154,p.D931N|uc010otd.2,p.D876N|ENST00000370378,p.D876N	protein_coding	uc010otd.2	nonsynonymous SNV	exon8	c.G2626A	p.D876N	SDTSTPEELKIYDSNLRIEVKMKKQ	SDTSTPEELKIYNSNLRIEVKMKKQ	4.0	8.0	-	-	3795_1:92647180-92647180 G>A_SDTSTPEELKIYNSNLRIEVKMKKQ
14:24901440-24901440 C>T	0.0	3795	MELANOMA	-	-	-	-	KHNYN	NM_001290257,p.P325S|NM_015299,p.P325S|NM_001290256,p.P366S|ENST00000553935,p.P325S|ENST00000556842,p.P325S|uc010tpc.2,p.P366S|uc001wph.4,p.P325S|uc010alw.3,p.P325S|ENST00000251343,p.P325S	retained_intron, protein_coding	uc010tpc.2	nonsynonymous SNV	exon3	c.C1096T	p.P366S	ALGGGGFCVHREPPGAHGSCHRAAQ	ALGGGGFCVHRESPGAHGSCHRAAQ	8.0	3.0	unscreened	-	3795_14:24901440-24901440 C>T_ALGGGGFCVHRESPGAHGSCHRAAQ
1:182798035-182798035 G>T	0.0	3795	MELANOMA	-	-	-	-	NPL	NM_001200050,p.G300C|ENST00000367553,p.G319C|ENST00000367554,p.G300C|ENST00000258317,p.G319C|NM_030769,p.G319C|uc001gpo.2,p.G300C|uc009wyb.3,p.G319C	protein_coding, processed_transcript	uc009wyb.3	nonsynonymous SNV	exon13	c.G955T	p.G319C	SFTDLKDGNLEAGS	SFTDLKDGNLEACS	8.0	1.0	-	-	3795_1:182798035-182798035 G>T_SFTDLKDGNLEACS
7:100839647-100839647 G>A	0.0	3795	MELANOMA	-	-	-	-	MOGAT3	ENST00000223114,p.S231F|NM_178176,p.S231F|ENST00000440203,p.S231F|uc003uyc.3,p.S231F	protein_coding	uc003uyc.3	nonsynonymous SNV	exon6	c.C692T	p.S231F	ALRHGASLVPVYSFGENDIFRLKAF	ALRHGASLVPVYFFGENDIFRLKAF	3.0	5.0	unscreened	-	3795_7:100839647-100839647 G>A_ALRHGASLVPVYFFGENDIFRLKAF
5:24511572-24511572 C>T	0.0	3795	MELANOMA	-	-	-	2	CDH10	ENST00000510477,p.G289E|uc003jgr.2,p.G289E|ENST00000264463,p.G289E|NM_006727,p.G289E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jgr.2	nonsynonymous SNV	exon6	c.G866A	p.G289E	RVLESSPVGTAIGSVKATDADTGKN	RVLESSPVGTAIESVKATDADTGKN	1.0	9.0	unscreened	-	3795_5:24511572-24511572 C>T_RVLESSPVGTAIESVKATDADTGKN
10:131666141-131666141 C>T	0.0	3795	MELANOMA	-	-	ID=COSM1250898,COSM1250897;OCCURENCE=1(oesophagus)	-	EBF3	uc021qav.2,p.G264S|uc001lki.2,p.G264S|NM_001005463,p.G264S|ENST00000368648,p.G264S|ENST00000355311,p.G273S	protein_coding, processed_transcript	uc021qav.2	nonsynonymous SNV	exon9	c.G790A	p.G264S	ATPCIKAISPSEGWTTGGATVIIIG	ATPCIKAISPSESWTTGGATVIIIG	3.0	9.0	-	-	3795_10:131666141-131666141 C>T_ATPCIKAISPSESWTTGGATVIIIG
9:73240246-73240246 C>T	0.0	3795	MELANOMA	-	-	-	-	TRPM3	NM_206945,p.G404E|uc004ahx.3,p.G404E|ENST00000396280,p.G404E|ENST00000377105,p.G404E|NM_024971,p.G404E|uc004ahz.3,p.G404E|ENST00000408909,p.G404E|ENST00000357533,p.G559E	retained_intron, protein_coding, processed_transcript	uc004ahz.3	nonsynonymous SNV	exon14	c.G1211A	p.G404E	REYPGFGWIYFKGNLPPDYRISLID	REYPGFGWIYFKENLPPDYRISLID	5.0	9.0	unscreened	-	3795_9:73240246-73240246 C>T_REYPGFGWIYFKENLPPDYRISLID
19:22363753-22363753 C>T	0.0	3795	MELANOMA	-	-	-	-	ZNF676	ENST00000397121,p.E256K|NM_001001411,p.E256K|uc002nqs.1,p.E256K	protein_coding	uc002nqs.1	nonsynonymous SNV	exon3	c.G766A	p.E256K	KIIHTGEKPYKCEECGKGFSSVSTL	KIIHTGEKPYKCKECGKGFSSVSTL	3.0	1.0	unscreened	-	3795_19:22363753-22363753 C>T_KIIHTGEKPYKCKECGKGFSSVSTL
6:71009776-71009776 C>T	0.0	3795	MELANOMA	-	-	-	-	COL9A1	NM_001851,p.G90E|ENST00000357250,p.G90E|uc003pfg.4,p.G90E|ENST00000370496,p.G90E	retained_intron, protein_coding, processed_transcript	uc003pfg.4	nonsynonymous SNV	exon4	c.G269A	p.G90E	VGSATLQVAYKLGNNVDFRIPTRNL	VGSATLQVAYKLENNVDFRIPTRNL	4.0	7.0	-	-	3795_6:71009776-71009776 C>T_VGSATLQVAYKLENNVDFRIPTRNL
11:30032336-30032336 C>A	0.0	3795	MELANOMA	-	-	-	-	KCNA4	NM_002233,p.Q630H|ENST00000328224,p.Q630H|uc021qfi.1,p.Q630H|uc001msk.3,p.Q630H	protein_coding, processed_transcript	uc021qfi.1	nonsynonymous SNV	exon1	c.G1890T	p.Q630H	VKESLCAKEEKCQGKGDDSETDKNN	VKESLCAKEEKCHGKGDDSETDKNN	2.0	1.0	unscreened	-	3795_11:30032336-30032336 C>A_VKESLCAKEEKCHGKGDDSETDKNN
5:140866959-140866959 G>A	0.0	3795	MELANOMA	-	-	-	-	PCDHGC4	uc003lky.2,p.R740K|uc011dbb.2,p.R740K|ENST00000306593,p.R740K|NM_018928,p.R740K|NM_032406,p.R740K	protein_coding	uc011dbb.2	nonsynonymous SNV	exon1	c.G2219A	p.R740K	AGTCACLTRSRRREGLPPSNGILRI	AGTCACLTRSRRKEGLPPSNGILRI	4.0	9.0	unscreened	-	3795_5:140866959-140866959 G>A_AGTCACLTRSRRKEGLPPSNGILRI
2:88425751-88425751 C>T	0.0	3795	MELANOMA	0.0009	-	ID=COSM1205967;OCCURENCE=1(large_intestine)	-	FABP1	NM_001443,p.E62K|ENST00000295834,p.E62K|uc002sst.2,p.E62K|ENST00000393750,p.E62K	retained_intron, protein_coding, processed_transcript	uc002sst.2	nonsynonymous SNV	exon2	c.G184A	p.E62K	FTITAGSKVIQNEFTVGEECELETM	FTITAGSKVIQNKFTVGEECELETM	3.0	5.0	-	-	3795_2:88425751-88425751 C>T_FTITAGSKVIQNKFTVGEECELETM
7:103275990-103275990 T>C	0.0	3795	MELANOMA	-	-	-	-	RELN	uc010liz.3,p.S783G|ENST00000428762,p.S783G|NM_005045,p.S783G|ENST00000424685,p.S783G|uc022ajq.1,p.S783G|ENST00000343529,p.S783G|uc022ajr.1,p.S783G|NM_173054,p.S783G	retained_intron, protein_coding, processed_transcript	uc022ajr.1	nonsynonymous SNV	exon19	c.A2347G	p.S783G	QFTLRLGSKSVLSTCRAPDQPGEGV	QFTLRLGSKSVLGTCRAPDQPGEGV	2.0	2.0	-	-	3795_7:103275990-103275990 T>C_QFTLRLGSKSVLGTCRAPDQPGEGV
15:25959276-25959276 G>C	0.0	3795	MELANOMA	-	-	-	-	ATP10A	ENST00000356865,p.A630G|NM_024490,p.A630G|uc010ayu.3,p.A630G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ayu.3	nonsynonymous SNV	exon10	c.C1889G	p.A630G	LTSGCSSIGSLAANKSSHKLGSSFP	LTSGCSSIGSLAGNKSSHKLGSSFP	1.0	9.0	unscreened	-	3795_15:25959276-25959276 G>C_LTSGCSSIGSLAGNKSSHKLGSSFP
9:34726204-34726204 G>A	0.0	3795	MELANOMA	0.19	rs521574	ID=COSM3952674,COSM3952675;OCCURENCE=1(lung),2(thyroid)	-	FAM205A	uc011lor.2,p.P345S|ENST00000378788,p.P345S|NM_001141917,p.P345S	protein_coding	uc011lor.2	nonsynonymous SNV	exon4	c.C1033T	p.P345S	NDQPVSFNLKNTPQVSLHRFETISL	NDQPVSFNLKNTSQVSLHRFETISL	1.0	2.0	-	-	3795_9:34726204-34726204 G>A_NDQPVSFNLKNTSQVSLHRFETISL
6:111694802-111694802 G>A	0.0	3795	MELANOMA	-	-	-	-	REV3L	ENST00000368802,p.P1586S|ENST00000368805,p.P1586S|ENST00000358835,p.P1586S|NM_001286431,p.P1508S|NM_002912,p.P1586S|uc003puy.4,p.P1586S|uc003pux.4,p.P1508S|ENST00000435970,p.P1508S|uc003puz.4,p.P1508S|NM_001286432,p.P1508S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003puz.4	nonsynonymous SNV	exon15	c.C4522T	p.P1508S	TRSVTSPRKPRTPRSTKQKEKIPKL	TRSVTSPRKPRTSRSTKQKEKIPKL	9.0	3.0	unscreened	-	3795_6:111694802-111694802 G>A_TRSVTSPRKPRTSRSTKQKEKIPKL
8:121357771-121357771 T>G	0.0	3795	MELANOMA	-	-	-	-	COL14A1	uc003yox.4,p.N1682K|uc003yoz.3,p.N647K|ENST00000440844,p.N29K|ENST00000247781,p.N1587K|ENST00000297848,p.N1682K|ENST00000309791,p.N1682K|NM_021110,p.N1682K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003yoz.3	nonsynonymous SNV	exon20	c.T1941G	p.N647K	EQGPPGTPGFPGNAGVPGTPGERGL	EQGPPGTPGFPGKAGVPGTPGERGL	5.0	2.0	-	-	3795_8:121357771-121357771 T>G_EQGPPGTPGFPGKAGVPGTPGERGL
X:131351170-131351170 C>T	0.0	3795	MELANOMA	-	-	-	-	RAP2C	uc004ewq.5,p.E43K|NM_021183,p.E43K|NM_001271186,p.E43K|ENST00000370874,p.E43K|uc004ewp.4,p.E43K|ENST00000342983,p.E43K	protein_coding, processed_transcript	uc004ewq.5	nonsynonymous SNV	exon4	c.G127A	p.E43K	KYDPTIEDFYRKEIEVDSSPSVLEI	KYDPTIEDFYRKKIEVDSSPSVLEI	7.0	5.0	unscreened	-	3795_X:131351170-131351170 C>T_KYDPTIEDFYRKKIEVDSSPSVLEI
8:10468147-10468147 G>A	0.0	3795	MELANOMA	-	-	-	-	RP1L1	ENST00000382483,p.S1154L|uc003wtc.3,p.S1154L|NM_178857,p.S1154L	protein_coding, processed_transcript	uc003wtc.3	nonsynonymous SNV	exon4	c.C3461T	p.S1154L	KDSPRYQELLSISKDLWPGCDVGED	KDSPRYQELLSILKDLWPGCDVGED	2.0	5.0	unscreened	-	3795_8:10468147-10468147 G>A_KDSPRYQELLSILKDLWPGCDVGED
19:57089002-57089002 G>T	0.0	3795	MELANOMA	-	-	-	-	ZNF470	NM_001001668,p.C402F|ENST00000391709,p.C402F|uc002qnl.4,p.C402F|ENST00000330619,p.C402F	protein_coding, processed_transcript	uc002qnl.4	nonsynonymous SNV	exon6	c.G1205T	p.C402F	YHTGEKPFDCIDCGKAFTDHIGLIQ	YHTGEKPFDCIDFGKAFTDHIGLIQ	5.0	6.0	unscreened	-	3795_19:57089002-57089002 G>T_YHTGEKPFDCIDFGKAFTDHIGLIQ
X:148664778-148664778 C>T	0.0	3795	MELANOMA	-	-	ID=COSM3843840;OCCURENCE=1(breast)	-	MAGEA9,MAGEA9B	NM_001080790,p.G20R|NM_005365,p.G20R|uc004fdk.3,p.G20R|uc022cgj.1,p.G20R|ENST00000243314,p.G20R	protein_coding	uc022cgj.1	nonsynonymous SNV	exon1	c.G58A	p.G20R	PHCKPDEDLEAQGEDLGLMGAQEPT	PHCKPDEDLEAQREDLGLMGAQEPT	1.0	2.0	-	-	3795_X:148664778-148664778 C>T_PHCKPDEDLEAQREDLGLMGAQEPT
3:146171935-146171935 G>A	0.0	3795	MELANOMA	-	-	-	-	PLSCR2	ENST00000489015,p.P113S|NM_020359,p.P113S|NM_001199979,p.P182S|uc003evw.2,p.P182S|ENST00000336685,p.P113S|uc021xfa.1,p.P186S|uc003evv.2,p.P113S|NM_001199978,p.P186S|ENST00000497985,p.P186S	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xfa.1	nonsynonymous SNV	exon7	c.C556T	p.P186S	CPCCLQEIEIQAPPGVPVGYVTQTW	CPCCLQEIEIQASPGVPVGYVTQTW	1.0	7.0	unscreened	-	3795_3:146171935-146171935 G>A_CPCCLQEIEIQASPGVPVGYVTQTW
2:242815334-242815334 G>A	0.0	3795	MELANOMA	-	-	-	-	RTP5	uc010fzu.1,p.D543N|NM_173821,p.D543N|ENST00000343216,p.D543N	protein_coding, nonsense_mediated_decay	uc010fzu.1	nonsynonymous SNV	exon2	c.G1627A	p.D543N	RACRRPHAEPYEDFWIWVSMTVCVF	RACRRPHAEPYENFWIWVSMTVCVF	1.0	7.0	unscreened	-	3795_2:242815334-242815334 G>A_RACRRPHAEPYENFWIWVSMTVCVF
16:70871687-70871687 C>T	0.0	3795	MELANOMA	-	-	-	-	HYDIN	ENST00000393567,p.R4383Q|uc031qwy.1,p.R4383Q|NM_001270974,p.R4383Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon77	c.G13148A	p.R4383Q	GNTLEIPITFYPRESINYQELIPFE	GNTLEIPITFYPQESINYQELIPFE	5.0	6.0	unscreened	-	3795_16:70871687-70871687 C>T_GNTLEIPITFYPQESINYQELIPFE
2:1271281-1271281 G>A	0.0	3795	MELANOMA	0.0009	-	ID=COSM1399184;OCCURENCE=1(large_intestine)	-	SNTG2	uc010ewi.3,p.E281K|ENST00000308624,p.E408K|ENST00000407292,p.E281K|NM_018968,p.E408K|uc002qwq.3,p.E408K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ewi.3	nonsynonymous SNV	exon8	c.G841A	p.E281K	GKSHVFNVELGSELAMWEKSFQRAT	GKSHVFNVELGSKLAMWEKSFQRAT	1.0	3.0	-	-	3795_2:1271281-1271281 G>A_GKSHVFNVELGSKLAMWEKSFQRAT
19:17766734-17766734 G>A	0.0	3795	MELANOMA	-	-	-	-	UNC13A	ENST00000252773,p.A414V|ENST00000551649,p.A414V|ENST00000428389,p.A502V|NM_001080421,p.A414V|uc031rjw.1,p.A414V|uc031rjv.1,p.A414V|ENST00000552293,p.A414V|ENST00000519716,p.A414V|ENST00000550896,p.A414V	retained_intron, protein_coding	uc031rjw.1	nonsynonymous SNV	exon10	c.C1241T	p.A414V	APKPATPDKVPAAEQIPEAEPPKDE	APKPATPDKVPAVEQIPEAEPPKDE	2.0	4.0	unscreened	-	3795_19:17766734-17766734 G>A_APKPATPDKVPAVEQIPEAEPPKDE
19:9067555-9067555 C>T	0.0	3795	MELANOMA	-	-	-	2	MUC16	NM_024690,p.D6631N|uc002mkp.3,p.D6631N|ENST00000397910,p.D6631N	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.G19891A	p.D6631N	VTSPMVTSFNIRDTIVSTSMPGSSE	VTSPMVTSFNIRNTIVSTSMPGSSE	1.0	5.0	unscreened	-	3795_19:9067555-9067555 C>T_VTSPMVTSFNIRNTIVSTSMPGSSE
9:23701582-23701582 A>G	0.0	3795	MELANOMA	-	-	-	-	ELAVL2	NM_004432,p.F170L|NM_001171197,p.F170L|ENST00000544538,p.F170L|NM_001171195,p.F170L|ENST00000423281,p.F35L|uc003zpu.3,p.F170L|ENST00000380117,p.F170L|uc003zpw.3,p.F170L|ENST00000380110,p.F199L|uc003zpt.3,p.F170L|uc003zps.3,p.F170L|uc003zpv.3,p.F170L|ENST00000397312,p.F170L|ENST00000440102,p.F170L|ENST00000223951,p.F170L	protein_coding, processed_transcript	uc003zpw.3	nonsynonymous SNV	exon5	c.T508C	p.F170L	VDQVTGISRGVGFIRFDKRIEAEEA	VDQVTGISRGVGLIRFDKRIEAEEA	1.0	3.0	unscreened	-	3795_9:23701582-23701582 A>G_VDQVTGISRGVGLIRFDKRIEAEEA
22:39078045-39078045 C>T	1.0	3795	MELANOMA	-	-	-	-	TOMM22	ENST00000216034,p.P21L|NM_020243,p.P21L|uc003awe.3,p.P21L	retained_intron, protein_coding	uc003awe.3	nonsynonymous SNV	exon1	c.C62T	p.P21L	GAGEPQSPDELLPKGDAEKPEEELE	GAGEPQSPDELLLKGDAEKPEEELE	9.0	7.0	-	-	3795_22:39078045-39078045 C>T_GAGEPQSPDELLLKGDAEKPEEELE
3:128695865-128695865 C>T	0.0	3795	MELANOMA	-	-	-	-	KIAA1257	ENST00000515659,p.E173K|ENST00000511438,p.E285K|uc003elj.4,p.E285K|NM_020741,p.E285K|uc003elg.1,p.E285K|uc003eli.4,p.E173K|ENST00000265068,p.E285K	protein_coding, processed_transcript	uc003elj.4	nonsynonymous SNV	exon6	c.G853A	p.E285K	QAEPETSSKNSEEYEKSLKMDDSST	QAEPETSSKNSEKYEKSLKMDDSST	1.0	8.0	-	-	3795_3:128695865-128695865 C>T_QAEPETSSKNSEKYEKSLKMDDSST
1:154842199-154842199 ->GCTGCTGCTGCTGCT	0.0	3795	MELANOMA	-	-	ID=COSM3685920;OCCURENCE=1(large_intestine)	-	KCNN3	uc001ffp.3,p.P81delinsQQQQQP|ENST00000271915,p.P81delinsQQQQQP|NM_002249,p.P81delinsQQQQQP|NM_001204087,p.P81delinsQQQQQP|uc009wox.1,p.P81delinsQQQQQP|uc021pah.1,p.P81delinsQQQQQP	protein_coding	uc021pah.1	nonframeshift insertion	exon1	c.241_242insAGCAGCAGCAGCAGC	p.P81delinsQQQQQP	QQQQQQQQQQQQPPHPLSQLAQLQS	QQQQQQQQQQQQQQQQQPPHPLSQL	4.0	2.0	unscreened	-	3795_1:154842199-154842199 ->GCTGCTGCTGCTGCT_QQQQQQQQQQQQQQQQQPPHPLSQL
2:28851448-28851448 G>A	0.0	3795	MELANOMA	-	-	-	-	PLB1	NM_001170585,p.E1216K|ENST00000541605,p.E192K|ENST00000422425,p.E1216K|uc002rmb.2,p.E1227K|ENST00000327757,p.E1227K|uc002rme.2,p.E192K|uc010ezj.2,p.E1216K|NM_153021,p.E1227K	retained_intron, protein_coding, nonsense_mediated_decay	uc010ezj.2	nonsynonymous SNV	exon51	c.G3646A	p.E1216K	HYCENPEAHLATEYVQHIQQALDIL	HYCENPEAHLATKYVQHIQQALDIL	4.0	3.0	unscreened	-	3795_2:28851448-28851448 G>A_HYCENPEAHLATKYVQHIQQALDIL
16:20494476-20494476 G>A	0.0	3795	MELANOMA	-	-	-	-	ACSM2A	ENST00000575690,p.A536T|uc002dhh.4,p.A166T|ENST00000573854,p.A536T|uc002dhg.4,p.A536T|ENST00000219054,p.A536T|NM_001010845,p.A536T|uc010vay.2,p.A457T|ENST00000536134,p.A308T|uc010bwe.3,p.A536T|uc002dhf.4,p.A536T|ENST00000417235,p.A457T|ENST00000396104,p.A536T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vay.2	nonsynonymous SNV	exon12	c.G1369A	p.A457T	TKELQQHVKSVTAPYKYPRKIEFVL	TKELQQHVKSVTTPYKYPRKIEFVL	1.0	4.0	unscreened	-	3795_16:20494476-20494476 G>A_TKELQQHVKSVTTPYKYPRKIEFVL
1:216074170-216074170 G>A	0.0	3795	MELANOMA	-	-	ID=COSM1689853;OCCURENCE=1(skin)	-	USH2A	uc001hku.1,p.R2460C|ENST00000307340,p.R2460C|ENST00000366943,p.R2460C|NM_206933,p.R2460C	retained_intron, protein_coding	uc001hku.1	nonsynonymous SNV	exon39	c.C7378T	p.R2460C	PTSLQVVWSTPARNNAPGSPRYQLQ	PTSLQVVWSTPACNNAPGSPRYQLQ	1.0	6.0	-	-	3795_1:216074170-216074170 G>A_PTSLQVVWSTPACNNAPGSPRYQLQ
7:136938288-136938288 C>T	1.0	3795	MELANOMA	-	-	-	-	PTN	ENST00000348225,p.R71Q|uc003vtq.2,p.R71Q|NM_002825,p.R71Q|ENST00000393083,p.R71Q	protein_coding	uc003vtq.2	nonsynonymous SNV	exon3	c.G212A	p.R71Q	SGDCGLGTREGTRTGAECKQTMKTQ	SGDCGLGTREGTQTGAECKQTMKTQ	10.0	6.0	-	-	3795_7:136938288-136938288 C>T_SGDCGLGTREGTQTGAECKQTMKTQ
19:42472964-42472964 C>T	0.0	3795	MELANOMA	-	-	-	-	ATP1A3	uc002osh.4,p.R931K|uc010xwf.2,p.R942K|NM_152296,p.R931K|uc010xwh.3,p.R944K|uc010xwg.2,p.R901K|NM_001256214,p.R944K|ENST00000545399,p.R944K|ENST00000441343,p.R931K|NM_001256213,p.R942K|ENST00000602133,p.R901K|ENST00000302102,p.R931K|ENST00000543770,p.R942K|uc002osg.4,p.R931K	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc010xwh.3	nonsynonymous SNV	exon20	c.G2831A	p.R944K	VQWADLIICKTRRNSVFQQGMKNKI	VQWADLIICKTRKNSVFQQGMKNKI	2.0	4.0	unscreened	-	3795_19:42472964-42472964 C>T_VQWADLIICKTRKNSVFQQGMKNKI
6:54805468-54805468 A>G	0.0	3795	MELANOMA	-	-	-	-	FAM83B	ENST00000306858,p.T567A|NM_001010872,p.T567A|uc003pck.4,p.T567A	protein_coding	uc003pck.4	nonsynonymous SNV	exon5	c.A1699G	p.T567A	EVNSCTTGSSNSTIIGSQGSETPKE	EVNSCTTGSSNSAIIGSQGSETPKE	1.0	8.0	unscreened	-	3795_6:54805468-54805468 A>G_EVNSCTTGSSNSAIIGSQGSETPKE
2:227959001-227959001 C>T	0.0	3795	MELANOMA	-	-	ID=COSM1017303;OCCURENCE=1(endometrium)	-	COL4A4	ENST00000396625,p.M403I|ENST00000329662,p.M403I|NM_000092,p.M403I|uc021vxr.1,p.M403I|uc021vxs.1,p.M403I	protein_coding	uc021vxs.1	nonsynonymous SNV	exon20	c.G1209A	p.M403I	GLLGRPGEACAGMIGPPGPQGFPGL	GLLGRPGEACAGIIGPPGPQGFPGL	2.0	7.0	unscreened	-	3795_2:227959001-227959001 C>T_GLLGRPGEACAGIIGPPGPQGFPGL
2:131521633-131521633 G>A	0.0	3795	MELANOMA	-	-	-	-	AMER3	NM_001105195,p.G663E|NM_152698,p.G663E|uc010fmu.1,p.G663E|uc010fms.1,p.G663E|ENST00000321420,p.G663E|ENST00000423981,p.G663E|uc010fmt.1,p.G663E|NM_001105194,p.G663E|uc021voy.1,p.G663E|uc010fmv.2,p.G663E|NM_001105193,p.G663E|uc002trw.2,p.G663E	protein_coding	uc021voy.1	nonsynonymous SNV	exon1	c.G1988A	p.G663E	LGCFRGPWRPGHGGDTLDAEPMLAG	LGCFRGPWRPGHEGDTLDAEPMLAG	2.0	3.0	unscreened	-	3795_2:131521633-131521633 G>A_LGCFRGPWRPGHEGDTLDAEPMLAG
7:100352875-100352875 G>A	0.0	3795	MELANOMA	-	-	-	-	ZAN	ENST00000542585,p.E1051K|uc003uwj.3,p.E1051K|ENST00000546292,p.E1051K|ENST00000538115,p.E1051K|uc003uwk.3,p.E1051K	protein_coding, polymorphic_pseudogene	uc003uwk.3	nonsynonymous SNV	exon15	c.G3151A	p.E1051K	SSTERCPPNARYESCACPASCKSPR	SSTERCPPNARYKSCACPASCKSPR	1.0	5.0	unscreened	-	3795_7:100352875-100352875 G>A_SSTERCPPNARYKSCACPASCKSPR
20:49626701-49626701 C>T	0.0	3795	MELANOMA	-	-	-	-	KCNG1	ENST00000371571,p.E59K|ENST00000439216,p.E59K|ENST00000396017,p.E59K|uc002xwb.3,p.E59K|NM_002237,p.E59K|ENST00000424171,p.E59K|uc002xwa.4,p.E59K|ENST00000433903,p.E59K	protein_coding	uc002xwb.3	nonsynonymous SNV	exon3	c.G175A	p.E59K	RPQDEPRQGCQPEDRRRRIIINVGG	RPQDEPRQGCQPKDRRRRIIINVGG	6.0	6.0	unscreened	-	3795_20:49626701-49626701 C>T_RPQDEPRQGCQPKDRRRRIIINVGG
8:113254011-113254011 C>T	0.0	3795	MELANOMA	-	-	-	2	CSMD3	NM_052900,p.G3300D|NM_198124,p.G3429D|uc003ynt.3,p.G3429D|uc003ynu.3,p.G3469D|ENST00000352409,p.G3399D|NM_198123,p.G3469D|uc003yns.3,p.G2671D|ENST00000339701,p.G2739D|ENST00000455883,p.G3300D|uc011lhx.2,p.G3300D|ENST00000343508,p.G3429D|ENST00000297405,p.G3469D	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon64	c.G9899A	p.G3300D	NTWTGKVPICEAGSKILVKDPRPAL	NTWTGKVPICEADSKILVKDPRPAL	2.0	3.0	-	-	3795_8:113254011-113254011 C>T_NTWTGKVPICEADSKILVKDPRPAL
X:140926147-140926147 G>A	0.0	3795	MELANOMA	-	-	-	-	MAGEC3	ENST00000298296,p.G16S|NM_138702,p.G16S|uc011mwp.2,p.G16S	protein_coding, processed_transcript	uc011mwp.2	nonsynonymous SNV	exon1	c.G46A	p.G16S	PCHWVLDATFSDGSLGQWVKNTCAT	PCHWVLDATFSDSSLGQWVKNTCAT	1.0	5.0	unscreened	-	3795_X:140926147-140926147 G>A_PCHWVLDATFSDSSLGQWVKNTCAT
6:131948614-131948614 C>T	0.0	3795	MELANOMA	-	-	-	-	MED23	uc003qcq.4,p.M27I|NM_001270521,p.M27I|ENST00000354577,p.M27I|ENST00000540546,p.M27I|uc031spr.1,p.M27I|ENST00000403834,p.M27I|ENST00000368068,p.M27I|uc003qcs.2,p.M27I|NM_004830,p.M27I|NM_001270522,p.M27I|NM_015979,p.M27I|ENST00000539158,p.M27I|ENST00000368053,p.M27I|ENST00000368058,p.M27I|ENST00000368060,p.M27I|uc003qct.2,p.M27I|uc031spq.1,p.M27I	protein_coding, processed_transcript	uc031spr.1	nonsynonymous SNV	exon3	c.G81A	p.M27I	TEVIEEAFPGMFMDTPEDEKTKLIS	TEVIEEAFPGMFIDTPEDEKTKLIS	7.0	4.0	unscreened	-	3795_6:131948614-131948614 C>T_TEVIEEAFPGMFIDTPEDEKTKLIS
19:14574945-14574945 C>T	1.0	3795	MELANOMA	-	-	-	-	PKN1	NM_213560,p.P577S|ENST00000586237,p.P57S|ENST00000342216,p.P577S|NM_002741,p.P571S|uc002myp.3,p.P571S|uc002myq.3,p.P577S|ENST00000242783,p.P571S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002myq.3	nonsynonymous SNV	exon12	c.C1729T	p.P577S	SDSSPQKSSRDPPSSPSSLSSPIQE	SDSSPQKSSRDPSSSPSSLSSPIQE	10.0	3.0	-	-	3795_19:14574945-14574945 C>T_SDSSPQKSSRDPSSSPSSLSSPIQE
2:130897612-130897612 C>T	1.0	3795	MELANOMA	-	-	-	-	CCDC74B	NM_001258307,p.E246K|ENST00000409943,p.E246K|uc002tqm.2,p.E312K|NM_207310,p.E312K|uc010yzw.2,p.E414K|uc002tqn.2,p.E246K|ENST00000392984,p.E414K|ENST00000310463,p.E312K	retained_intron, protein_coding, nonsense_mediated_decay	uc010yzw.2	nonsynonymous SNV	exon5	c.G1240A	p.E414K	LEGSQRPQAVPEEASFPRDQEATHF	LEGSQRPQAVPEKASFPRDQEATHF	6.0	7.0	-	-	3795_2:130897612-130897612 C>T_LEGSQRPQAVPEKASFPRDQEATHF
6:38750810-38750810 G>A	0.0	3795	MELANOMA	0.0005	-	-	-	DNAH8	uc003ooe.2,p.G547S|NM_001206927,p.G764S|uc021yzh.1,p.G764S|ENST00000359357,p.G547S|ENST00000449981,p.G764S|ENST00000441566,p.G547S|ENST00000327475,p.G752S	protein_coding	uc021yzh.1	nonsynonymous SNV	exon17	c.G2290A	p.G764S	FFKNSDILSSPDGKAVIRQYNKISY	FFKNSDILSSPDSKAVIRQYNKISY	2.0	7.0	-	-	3795_6:38750810-38750810 G>A_FFKNSDILSSPDSKAVIRQYNKISY
8:66988939-66988939 C>T	0.0	3795	MELANOMA	-	-	-	-	DNAJC5B	NM_033105,p.P55L|uc003xvs.1,p.P55L|ENST00000276570,p.P55L|ENST00000522619,p.P55L	protein_coding, processed_transcript	uc003xvs.1	nonsynonymous SNV	exon4	c.C164T	p.P55L	ALKHHPDKNPDDPAATEKFKEINNA	ALKHHPDKNPDDLAATEKFKEINNA	7.0	5.0	unscreened	-	3795_8:66988939-66988939 C>T_ALKHHPDKNPDDLAATEKFKEINNA
18:54814871-54814871 G>T	0.0	3795	MELANOMA	-	-	-	-	BOD1L2	ENST00000585477,p.G110W|NM_001257964,p.G110W|uc002lgm.3,p.G110W	protein_coding	uc002lgm.3	nonsynonymous SNV	exon1	c.G328T	p.G110W	LHDGLRQSVVQSGRSEAGVDRISSQ	LHDGLRQSVVQSWRSEAGVDRISSQ	1.0	5.0	unscreened	-	3795_18:54814871-54814871 G>T_LHDGLRQSVVQSWRSEAGVDRISSQ
X:27765352-27765352 G>A	0.0	3795	MELANOMA	-	-	-	-	DCAF8L2	ENST00000451261,p.E114K|uc011mjy.2,p.E114K|NM_001136533,p.E114K	protein_coding, processed_transcript	uc011mjy.2	nonsynonymous SNV	exon1	c.G340A	p.E114K	HYPLVGEEETEREEEDEEIQEEGGE	HYPLVGEEETERKEEDEEIQEEGGE	1.0	8.0	-	-	3795_X:27765352-27765352 G>A_HYPLVGEEETERKEEDEEIQEEGGE
19:23328535-23328535 G>C	0.0	3795	MELANOMA	-	-	-	-	ZNF730	ENST00000597761,p.C230S|NM_001277403,p.C230S|uc031rkc.1,p.C230S	protein_coding	uc031rkc.1	nonsynonymous SNV	exon4	c.G689C	p.C230S	THKRITEKKPYKCKECGKAFNWFSH	THKRITEKKPYKSKECGKAFNWFSH	5.0	6.0	unscreened	-	3795_19:23328535-23328535 G>C_THKRITEKKPYKSKECGKAFNWFSH
16:88498440-88498440 G>A	0.0	3795	MELANOMA	-	-	-	-	ZNF469	NM_001127464,p.G1493E|ENST00000565624,p.G1521E|uc002fku.2,p.G1493E|ENST00000437464,p.G1493E	protein_coding	uc002fku.2	nonsynonymous SNV	exon2	c.G4478A	p.G1493E	PMLPSHFPDLSGGKVLSKTCPPERT	PMLPSHFPDLSGEKVLSKTCPPERT	3.0	6.0	unscreened	-	3795_16:88498440-88498440 G>A_PMLPSHFPDLSGEKVLSKTCPPERT
2:28851448-28851448 G>A	0.0	3795	MELANOMA	-	-	-	-	PLB1	ENST00000444257,p.G264E	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000444257	nonsynonymous SNV	exon12	c.G791A	p.G264E	WGPEKEGGPLGHGICSAHPTGPGHP	WGPEKEGGPLGHEICSAHPTGPGHP	4.0	3.0	unscreened	-	3795_2:28851448-28851448 G>A_WGPEKEGGPLGHEICSAHPTGPGHP
1:171123346-171123346 C>T	0.0	3795	MELANOMA	-	-	-	-	FMO6P	ENST00000236166,p.L417F|uc001ghj.1,p.L274F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001ghj.1	nonsynonymous SNV	exon6	c.C820T	p.L274F	MMDDTDEKMGKKLK	MMDDTDEKMGKKFK	1.0	2.0	-	-	3795_1:171123346-171123346 C>T_MMDDTDEKMGKKFK
20:48098545-48098545 C>T	0.0	3795	MELANOMA	-	-	-	-	KCNB1	uc002xur.1,p.R158Q|uc002xus.1,p.R158Q|NM_004975,p.R158Q|ENST00000371741,p.R158Q	protein_coding	uc002xus.1	nonsynonymous SNV	exon2	c.G473A	p.R158Q	EELKREAETLREREGEEFDNTCCAE	EELKREAETLREQEGEEFDNTCCAE	1.0	8.0	unscreened	-	3795_20:48098545-48098545 C>T_EELKREAETLREQEGEEFDNTCCAE
6:54173655-54173655 C>A	0.0	3795	MELANOMA	-	-	-	-	TINAG	ENST00000370864,p.R85S|ENST00000259782,p.R103S|uc003pcj.2,p.R103S|NM_014464,p.R103S|ENST00000370869,p.R99S|uc003pci.3,p.R103S	protein_coding, processed_transcript	uc003pcj.2	nonsynonymous SNV	exon1	c.C307A	p.R103S	NSDCCPDYKSFCREEKEWPPHTQPW	NSDCCPDYKSFCSEEKEWPPHTQPW	2.0	7.0	-	-	3795_6:54173655-54173655 C>A_NSDCCPDYKSFCSEEKEWPPHTQPW
X:100530230-100530230 C>T	0.0	3795	MELANOMA	-	-	-	-	TAF7L	ENST00000372905,p.E282K|ENST00000372907,p.E442K|uc004eha.3,p.E282K|uc004ehb.3,p.E442K|NM_001168474,p.E356K|uc004ehc.2,p.E356K|NM_024885,p.E442K|ENST00000356784,p.E356K|ENST00000324762,p.E282K	protein_coding	uc004ehc.2	nonsynonymous SNV	exon12	c.G1066A	p.E356K	HFQSVLEQLELQEKQKNEKLISLQE	HFQSVLEQLELQKKQKNEKLISLQE	8.0	7.0	unscreened	-	3795_X:100530230-100530230 C>T_HFQSVLEQLELQKKQKNEKLISLQE
7:57529114-57529114 G>A	0.0	3795	MELANOMA	-	-	-	-	ZNF716	ENST00000420713,p.R316K|uc011kdi.1,p.R316K|NM_001159279,p.R316K	protein_coding	uc011kdi.1	nonsynonymous SNV	exon4	c.G947A	p.R316K	AFSRSSTLTNHKRIHTGERPYKCEE	AFSRSSTLTNHKKIHTGERPYKCEE	1.0	4.0	unscreened	-	3795_7:57529114-57529114 G>A_AFSRSSTLTNHKKIHTGERPYKCEE
16:61747748-61747748 C>T	0.0	3795	MELANOMA	-	-	-	-	CDH8	ENST00000577730,p.E551K|ENST00000577390,p.E551K|uc002eog.2,p.E551K|NM_001796,p.E551K|ENST00000299345,p.E551K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002eog.2	nonsynonymous SNV	exon10	c.G1651A	p.E551K	MVNNPNFTIKKNEDNSLSILAKHNG	MVNNPNFTIKKNKDNSLSILAKHNG	3.0	3.0	unscreened	-	3795_16:61747748-61747748 C>T_MVNNPNFTIKKNKDNSLSILAKHNG
20:5283051-5283051 G>A	0.0	3795	MELANOMA	0.0005	-	-	-	PROKR2	ENST00000546004,p.R264C|uc010zqw.2,p.R264C|uc010zqy.2,p.R264C|NM_144773,p.R264C|ENST00000217270,p.R264C|uc010zqx.2,p.R264C	protein_coding	uc010zqy.2	nonsynonymous SNV	exon3	c.C790T	p.R264C	FKAVPGFQTEQIRKRLRCRRKTVLV	FKAVPGFQTEQICKRLRCRRKTVLV	1.0	6.0	-	-	3795_20:5283051-5283051 G>A_FKAVPGFQTEQICKRLRCRRKTVLV
19:9089228-9089228 C>T	0.0	3795	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.G863R|NM_024690,p.G863R|ENST00000397910,p.G863R	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.G2587A	p.G863R	SSSTPSTHLFTSGEETEETSNPSVS	SSSTPSTHLFTSREETEETSNPSVS	1.0	4.0	unscreened	-	3795_19:9089228-9089228 C>T_SSSTPSTHLFTSREETEETSNPSVS
X:15307743-15307743 C>T	0.0	3795	MELANOMA	-	-	-	-	ASB11	ENST00000485437,p.G219E	protein_coding, nonsense_mediated_decay	ENST00000485437	nonsynonymous SNV	exon6	c.G656A	p.G219E	PSSWDYRSQRVHGDPAGK	PSSWDYRSQRVHEDPAGK	2.0	7.0	unscreened	-	3795_X:15307743-15307743 C>T_PSSWDYRSQRVHEDPAGK
21:39087308-39087308 C>T	0.0	3795	MELANOMA	-	-	-	-	KCNJ6	ENST00000288309,p.R51K|uc002ywo.3,p.R51K|ENST00000400482,p.R51K|NM_002240,p.R51K|uc011aej.2,p.R51K	protein_coding	uc011aej.2	nonsynonymous SNV	exon3	c.G152A	p.R51K	DLPRHISRDRTKRKIQRYVRKDGKC	DLPRHISRDRTKKKIQRYVRKDGKC	1.0	6.0	unscreened	-	3795_21:39087308-39087308 C>T_DLPRHISRDRTKKKIQRYVRKDGKC
1:207134283-207134283 G>A	0.0	3795	MELANOMA	-	-	-	-	FCAMR	NM_001170631,p.P313L|uc001hfa.4,p.P313L|uc021pig.1,p.P228L|ENST00000324852,p.P313L	protein_coding, processed_transcript, nonsense_mediated_decay	uc021pig.1	nonsynonymous SNV	exon3	c.C683T	p.P228L	SVKAPAPIPESPPSKSRSMSNTTEG	SVKAPAPIPESPLSKSRSMSNTTEG	1.0	7.0	-	-	3795_1:207134283-207134283 G>A_SVKAPAPIPESPLSKSRSMSNTTEG
X:63565018-63565018 C>T	0.0	3795	MELANOMA	-	-	-	-	MTMR8	uc004dvs.3,p.E258K|ENST00000453546,p.E258K|NM_017677,p.E258K|uc011mou.2,p.E258K|ENST00000374852,p.E258K	protein_coding, processed_transcript	uc011mou.2	nonsynonymous SNV	exon7	c.G772A	p.E258K	NAMANRAAGKGYENEDNYANIRFRF	NAMANRAAGKGYKNEDNYANIRFRF	5.0	4.0	unscreened	-	3795_X:63565018-63565018 C>T_NAMANRAAGKGYKNEDNYANIRFRF
1:196397353-196397353 C>T	0.0	3795	MELANOMA	-	-	-	-	KCNT2	ENST00000367431,p.G289E|uc001gte.1,p.G289E|uc001gtf.1,p.G289E|uc001gtd.1,p.G289E|ENST00000294725,p.G289E|ENST00000367433,p.G289E|uc009wyv.1,p.G264E|NM_198503,p.G289E|NM_001287819,p.G289E|uc009wyu.3,p.G289E|NM_001287820,p.G289E	protein_coding, processed_transcript	uc009wyv.1	nonsynonymous SNV	exon9	c.G791A	p.G264E	LAYLWMERQKSGGNYSRHRAQTEKH	LAYLWMERQKSGENYSRHRAQTEKH	1.0	5.0	-	-	3795_1:196397353-196397353 C>T_LAYLWMERQKSGENYSRHRAQTEKH
19:36279051-36279051 G>A	0.0	3795	MELANOMA	-	-	-	-	ARHGAP33	uc002obv.1,p.S783N|ENST00000007510,p.S1195N|NM_001172630,p.S1031N|uc002obs.2,p.S1034N|uc002obt.2,p.S1031N|ENST00000314737,p.S1034N|ENST00000378944,p.S1031N|NM_052948,p.S1034N	retained_intron, protein_coding, processed_transcript	uc002obv.1	nonsynonymous SNV	exon8	c.G2348A	p.S783N	SSSSSSPPAHPRSRSDPGPPVPRLP	SSSSSSPPAHPRNRSDPGPPVPRLP	5.0	5.0	unscreened	-	3795_19:36279051-36279051 G>A_SSSSSSPPAHPRNRSDPGPPVPRLP
2:120358910-120358910 G>A	0.0	3795	MELANOMA	0.01	-	-	-	CFAP221	NM_001271049,p.E250K|uc010yyq.3,p.E94K|ENST00000295220,p.E250K|uc031rou.1,p.E250K|ENST00000413369,p.E250K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rou.1	nonsynonymous SNV	exon8	c.G748A	p.E250K	QLWISQFNSQPYECVFTGTCYPNMA	QLWISQFNSQPYKCVFTGTCYPNMA	2.0	4.0	unscreened	-	3795_2:120358910-120358910 G>A_QLWISQFNSQPYKCVFTGTCYPNMA
7:71275369-71275369 C>T	0.0	3795	MELANOMA	-	-	-	-	CALN1	ENST00000431984,p.E162K|ENST00000395276,p.E162K|uc003twc.4,p.E162K|NM_001017440,p.E162K|ENST00000405452,p.E162K|ENST00000395275,p.E204K|ENST00000329008,p.E162K|uc003twb.4,p.E204K|ENST00000412588,p.E204K|uc003twa.4,p.E162K|NM_031468,p.E204K	protein_coding, nonsense_mediated_decay	uc003twc.4	nonsynonymous SNV	exon6	c.G484A	p.E162K	MKDIENIIINEEESLNETSGNCQTE	MKDIENIIINEEKSLNETSGNCQTE	1.0	7.0	unscreened	-	3795_7:71275369-71275369 C>T_MKDIENIIINEEKSLNETSGNCQTE
8:124978501-124978501 G>A	0.0	3795	MELANOMA	-	-	-	-	FER1L6	NM_001039112,p.E119K|ENST00000522917,p.E119K|uc003yqw.3,p.E119K|ENST00000399018,p.E119K	protein_coding	uc003yqw.3	nonsynonymous SNV	exon5	c.G355A	p.E119K	EIGDEKKQSTVKEGTNSPFYNEYFV	EIGDEKKQSTVKKGTNSPFYNEYFV	1.0	6.0	unscreened	-	3795_8:124978501-124978501 G>A_EIGDEKKQSTVKKGTNSPFYNEYFV
19:39015984-39015984 G>A	0.0	3795	MELANOMA	-	-	-	-	RYR1	uc002oit.3,p.D3490N|NM_000540,p.D3490N|uc010xuf.1,p.D410N|ENST00000359596,p.D3490N|ENST00000360985,p.D3490N	retained_intron, protein_coding, nonsense_mediated_decay	uc010xuf.1	nonsynonymous SNV	exon10	c.G1228A	p.D410N	MAKAGDIQSGGSDQERTKKKRRGDR	MAKAGDIQSGGSNQERTKKKRRGDR	6.0	5.0	unscreened	-	3795_19:39015984-39015984 G>A_MAKAGDIQSGGSNQERTKKKRRGDR
19:39015984-39015984 G>A	0.0	3795	MELANOMA	-	-	-	-	RYR1	uc002oiu.3,p.D3485N|ENST00000355481,p.D3485N|NM_001042723,p.D3485N	retained_intron, protein_coding, nonsense_mediated_decay	uc002oiu.3	nonsynonymous SNV	exon70	c.G10453A	p.D3485N	DNKSKMAKSGGSDQERTKKKRRGDR	DNKSKMAKSGGSNQERTKKKRRGDR	6.0	5.0	unscreened	-	3795_19:39015984-39015984 G>A_DNKSKMAKSGGSNQERTKKKRRGDR
19:9057271-9057271 C>T	0.0	3795	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.V10059M|ENST00000397910,p.V10059M|NM_024690,p.V10059M	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.G30175A	p.V10059M	SFSVTSLLTPGMVKTTDTSTEPGTS	SFSVTSLLTPGMMKTTDTSTEPGTS	1.0	4.0	unscreened	-	3795_19:9057271-9057271 C>T_SFSVTSLLTPGMMKTTDTSTEPGTS
18:28576989-28576989 T>C	0.0	3795	MELANOMA	-	-	-	-	DSC3	uc002kwi.4,p.Q754R|ENST00000434452,p.Q754R|ENST00000360428,p.Q754R|NM_024423,p.Q754R|uc002kwj.4,p.Q754R|NM_001941,p.Q754R	protein_coding	uc002kwj.4	nonsynonymous SNV	exon15	c.A2261G	p.Q754R	DDRVCSANGFMTQTTNNSSQGFCGT	DDRVCSANGFMTRTTNNSSQGFCGT	1.0	5.0	unscreened	-	3795_18:28576989-28576989 T>C_DDRVCSANGFMTRTTNNSSQGFCGT
X:148037355-148037355 G>A	0.0	3795	MELANOMA	-	-	-	-	AFF2	uc011mxc.2,p.E235K|uc011mxb.2,p.E559K|ENST00000342251,p.E561K|ENST00000286437,p.E235K|NM_001169122,p.E561K|NM_001169125,p.E555K|NM_001170628,p.E235K|uc004fcp.3,p.E594K|NM_002025,p.E594K|ENST00000370457,p.E561K|uc004fcs.3,p.E561K|uc004fcr.3,p.E555K|ENST00000370460,p.E594K|NM_001169123,p.E584K|uc004fcq.3,p.E584K|NM_001169124,p.E559K	protein_coding	uc011mxc.2	nonsynonymous SNV	exon8	c.G703A	p.E235K	EPKERPLLSLIREKARPRPTQKIPE	EPKERPLLSLIRKKARPRPTQKIPE	2.0	6.0	unscreened	-	3795_X:148037355-148037355 G>A_EPKERPLLSLIRKKARPRPTQKIPE
8:139733014-139733014 C>T	0.0	3795	MELANOMA	-	-	-	-	COL22A1	uc011ljo.2,p.E75K|ENST00000303045,p.E775K|NM_152888,p.E775K|uc003yvd.3,p.E775K|ENST00000435777,p.E775K	protein_coding, processed_transcript	uc011ljo.2	nonsynonymous SNV	exon10	c.G223A	p.E75K	PPGTKGEPGERGEDGLPGKPGLRGE	PPGTKGEPGERGKDGLPGKPGLRGE	5.0	5.0	unscreened	-	3795_8:139733014-139733014 C>T_PPGTKGEPGERGKDGLPGKPGLRGE
X:49173668-49173668 G>A	0.0	3795	MELANOMA	-	-	-	-	GAGE10	uc010nir.1,p.E77K|ENST00000407599,p.E77K|NM_001098413,p.E77K	protein_coding	uc010nir.1	nonsynonymous SNV	exon4	c.G229A	p.E77K	AGQGPKPEADSQEQVHPKTGCECGD	AGQGPKPEADSQKQVHPKTGCECGD	5.0	4.0	unscreened	-	3795_X:49173668-49173668 G>A_AGQGPKPEADSQKQVHPKTGCECGD
7:93106885-93106885 C>T	0.0	3795	MELANOMA	-	-	-	-	CALCR	uc003umw.2,p.D101N|uc022ahi.1,p.D101N|ENST00000360249,p.D101N|uc003umv.2,p.D119N|ENST00000421592,p.D101N|ENST00000359558,p.D119N|NM_001742,p.D101N|NM_001164737,p.D119N|ENST00000426151,p.D101N|ENST00000415529,p.D101N|NM_001164738,p.D101N|ENST00000394441,p.D101N|ENST00000423724,p.D101N	protein_coding, nonsense_mediated_decay	uc022ahi.1	nonsynonymous SNV	exon4	c.G301A	p.D101N	VLSYQFCPDYFPDFDPSEKVTKYCD	VLSYQFCPDYFPNFDPSEKVTKYCD	1.0	6.0	unscreened	-	3795_7:93106885-93106885 C>T_VLSYQFCPDYFPNFDPSEKVTKYCD
X:153880763-153880763 G>A	0.0	3795	MELANOMA	-	-	ID=COSM3424633,COSM3424631,COSM3424632;OCCURENCE=1(large_intestine)	-	CTAG2	uc004fmi.2,p.R138W|NM_020994,p.R138W|ENST00000247306,p.R138W	protein_coding	uc004fmi.2	nonsynonymous SNV	exon2	c.C412T	p.R138W	FTVSGNLLFMSVRDQDREGAGRMRV	FTVSGNLLFMSVWDQDREGAGRMRV	1.0	6.0	unscreened	-	3795_X:153880763-153880763 G>A_FTVSGNLLFMSVWDQDREGAGRMRV
18:42531901-42531901 C>T	0.0	3795	MELANOMA	-	-	-	1	SETBP1	uc010dni.3,p.P866S|ENST00000282030,p.P866S|NM_015559,p.P866S	protein_coding	uc010dni.3	nonsynonymous SNV	exon4	c.C2596T	p.P866S	SPVSESHSEETIPSDSGIGTDNNST	SPVSESHSEETISSDSGIGTDNNST	5.0	5.0	unscreened	-	3795_18:42531901-42531901 C>T_SPVSESHSEETISSDSGIGTDNNST
1:152538680-152538680 G>A	0.0	3795	MELANOMA	-	-	-	-	LCE3E	NM_178435,p.S2F|uc001faa.4,p.S2F|uc021oyz.1,p.S2F|ENST00000368789,p.S2F	protein_coding	uc021oyz.1	nonsynonymous SNV	exon1	c.C5T	p.S2F	MSCQQNQKQCQPPP	MFCQQNQKQCQPPP	1.0	8.0	-	-	3795_1:152538680-152538680 G>A_MFCQQNQKQCQPPP
19:56114268-56114268 G>A	0.0	3795	MELANOMA	-	-	-	-	ZNF524	ENST00000301073,p.A264T|NM_153219,p.A264T|uc002qlk.1,p.A264T|ENST00000591046,p.A264T|uc021vbz.1,p.A264T	protein_coding	uc021vbz.1	nonsynonymous SNV	exon1	c.G790A	p.A264T	EEEEETEGKGEPA	EEEEETEGKGEPT	4.0	5.0	unscreened	-	3795_19:56114268-56114268 G>A_EEEEETEGKGEPT
11:62400140-62400140 G>A	1.0	3879	MELANOMA	-	-	-	-	GANAB	ENST00000540933,p.S201F|ENST00000346178,p.S320F|uc001nuc.4,p.S201F|uc010rmb.3,p.S184F|NM_198334,p.S298F|ENST00000356638,p.S298F|NM_198335,p.S320F|NM_001278192,p.S206F|NM_001278193,p.S184F|uc001nua.4,p.S320F|uc001nub.4,p.S298F|NM_001278194,p.S201F|uc010rma.3,p.S206F|ENST00000534779,p.S206F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rmb.3	nonsynonymous SNV	exon6	c.C551T	p.S184F	QYELYNPMALYGSVPVLLAHNPHRD	QYELYNPMALYGFVPVLLAHNPHRD	10.0	5.0	CD8	-	3879_11:62400140-62400140 G>A_QYELYNPMALYGFVPVLLAHNPHRD
13:96415935-96415935 A>T	1.0	3879	MELANOMA	-	-	-	-	DNAJC3	NM_006260,p.K296I|ENST00000376795,p.K245I|ENST00000602402,p.K296I|uc001vmq.3,p.K296I	protein_coding	uc001vmq.3	nonsynonymous SNV	exon8	c.A887T	p.K296I	YTDATSKYESVMKTEPSIAEYTVRS	YTDATSKYESVMITEPSIAEYTVRS	9.0	6.0	-	-	3879_13:96415935-96415935 A>T_YTDATSKYESVMITEPSIAEYTVRS
7:6426892-6426892 C>T	1.0	3879	MELANOMA	-	-	ID=COSM1167878,COSM125734;OCCURENCE=3(NS),1(upper_aerodigestive_tract),1(breast),38(skin),1(endometrium)	1	RAC1	ENST00000356142,p.P29S|NM_018890,p.P29S|uc003spx.3,p.P29S|uc003spw.3,p.P29S|ENST00000348035,p.P29S|NM_006908,p.P29S	retained_intron, protein_coding, processed_transcript	uc003spx.3	nonsynonymous SNV	exon2	c.C85T	p.P29S	TCLLISYTTNAFPGEYIPTVFDNYS	TCLLISYTTNAFSGEYIPTVFDNYS	10.0	2.0	-	-	3879_7:6426892-6426892 C>T_TCLLISYTTNAFSGEYIPTVFDNYS
13:96415936-96415936 A>T	1.0	3879	MELANOMA	-	-	-	-	DNAJC3	uc001vmq.3,p.K296N|NM_006260,p.K296N|ENST00000602402,p.K296N|ENST00000376795,p.K245N	protein_coding	uc001vmq.3	nonsynonymous SNV	exon8	c.A888T	p.K296N	YTDATSKYESVMKTEPSIAEYTVRS	YTDATSKYESVMNTEPSIAEYTVRS	9.0	6.0	unscreened	-	3879_13:96415936-96415936 A>T_YTDATSKYESVMNTEPSIAEYTVRS
5:54579410-54579410 G>A	1.0	3879	MELANOMA	-	-	ID=COSM77579;OCCURENCE=3(large_intestine),1(ovary)	-	DHX29	ENST00000251636,p.S529L|uc003jpx.3,p.S529L|NM_019030,p.S529L	retained_intron, protein_coding	uc003jpx.3	nonsynonymous SNV	exon11	c.C1586T	p.S529L	SEDPEESWENLVSDEDFSALSLESA	SEDPEESWENLVLDEDFSALSLESA	9.0	5.0	-	-	3879_5:54579410-54579410 G>A_SEDPEESWENLVLDEDFSALSLESA
19:58718141-58718141 C>T	1.0	3879	MELANOMA	-	-	-	-	ZNF274	ENST00000345813,p.P72L|ENST00000326804,p.P104L|uc002qrq.1,p.P104L|uc002qrr.1,p.P72L|ENST00000594839,p.P104L	retained_intron, protein_coding, processed_transcript	uc002qrr.1	nonsynonymous SNV	exon4	c.C215T	p.P72L	LDPKLDPLPAESPLMNIEVVEVLTL	LDPKLDPLPAESLLMNIEVVEVLTL	6.0	5.0	-	-	3879_19:58718141-58718141 C>T_LDPKLDPLPAESLLMNIEVVEVLTL
7:139092010-139092010 G>T	1.0	3879	MELANOMA	-	-	-	-	C7orf55-LUC7L2,LUC7L2	uc011kqs.2,p.D198Y|uc003vuz.1,p.D148Y|uc003vux.4,p.D201Y|NM_001270643,p.D200Y|ENST00000354926,p.D201Y|uc003vuy.4,p.D200Y|uc003vva.3,p.D148Y|ENST00000263545,p.D200Y|uc011kqt.3,p.D267Y|ENST00000541515,p.D267Y|NM_016019,p.D201Y|NM_001244585,p.D198Y|NM_001244584,p.D267Y|ENST00000541170,p.D198Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kqt.3	nonsynonymous SNV	exon7	c.G799T	p.D267Y	VCEVCSAYLGLHDNDRRLADHFGGK	VCEVCSAYLGLHYNDRRLADHFGGK	10.0	9.0	-	-	3879_7:139092010-139092010 G>T_VCEVCSAYLGLHYNDRRLADHFGGK
19:1979400-1979400 C>T	1.0	3879	MELANOMA	-	-	-	-	CSNK1G2	uc002lul.4,p.P284L|NM_001319,p.P284L|ENST00000255641,p.P284L|uc010dsu.3,p.P236L	retained_intron, protein_coding, processed_transcript	uc010dsu.3	nonsynonymous SNV	exon8	c.C707T	p.P236L	RATPIEVLCENFPEEMATYLRYVRR	RATPIEVLCENFLEEMATYLRYVRR	8.0	8.0	-	-	3879_19:1979400-1979400 C>T_RATPIEVLCENFLEEMATYLRYVRR
8:21957390-21957390 C>T	1.0	3879	MELANOMA	-	-	-	-	FAM160B2	uc011kyx.2,p.H443Y|ENST00000450006,p.H443Y|ENST00000289921,p.H443Y|NM_022749,p.H443Y	retained_intron, protein_coding, nonsense_mediated_decay	uc011kyx.2	nonsynonymous SNV	exon10	c.C1327T	p.H443Y	HTLYAHLIGHCDHLSDEISITTLRL	HTLYAHLIGHCDYLSDEISITTLRL	9.0	9.0	-	-	3879_8:21957390-21957390 C>T_HTLYAHLIGHCDYLSDEISITTLRL
4:25415962-25415962 C>T	1.0	3879	MELANOMA	-	-	-	-	ANAPC4	uc003gro.3,p.S547L|ENST00000510092,p.S548L|ENST00000315368,p.S547L|uc003grp.3,p.S433L|NM_013367,p.S547L|NM_001286756,p.S548L	retained_intron, protein_coding, nonsense_mediated_decay	uc003grp.3	nonsynonymous SNV	exon20	c.C1298T	p.S433L	QCLQKPADVIGKSMNQAICIPLYRD	QCLQKPADVIGKLMNQAICIPLYRD	9.0	6.0	-	-	3879_4:25415962-25415962 C>T_QCLQKPADVIGKLMNQAICIPLYRD
2:232135720-232135720 C>T	1.0	3879	MELANOMA	-	-	-	-	ARMC9	ENST00000349938,p.S382F|uc031rrs.1,p.S382F|uc002vrq.5,p.S382F|NM_001291656,p.S382F|NM_025139,p.S382F|ENST00000436339,p.S99F|uc002vrp.5,p.S382F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rrs.1	nonsynonymous SNV	exon13	c.C1145T	p.S382F	SHNQRSVLQLLHSTSDVVRQYMARL	SHNQRSVLQLLHFTSDVVRQYMARL	9.0	7.0	-	-	3879_2:232135720-232135720 C>T_SHNQRSVLQLLHFTSDVVRQYMARL
2:232135720-232135720 C>T	1.0	3879	MELANOMA	-	-	-	-	ARMC9	ENST00000446447,p.S24F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000446447	nonsynonymous SNV	exon2	c.C71T	p.S24F	TAATRSVLQLLHSTSDVVRQYMARL	TAATRSVLQLLHFTSDVVRQYMARL	9.0	7.0	-	-	3879_2:232135720-232135720 C>T_TAATRSVLQLLHFTSDVVRQYMARL
X:41203555-41203556 AT>-	1.0	3879	MELANOMA	-	-	-	1	DDX3X	uc010nhf.1,p.I294fs	protein_coding, processed_transcript	uc010nhf.1	frameshift deletion	exon9	c.880_881del	p.I294fs	CVVYGGADIGQQIRDLERGCHLLVA	CVVYGGADIGQQSRLGTWMPFVSSHSRTSSGYDGKRKDWIRLLQVCFILFLFFCFVLFCSFVFGRVALLLPRLECHGAISAHHNLCLP	9.0	2.0	unscreened	-	3879_X:41203555-41203556 AT>-_CVVYGGADIGQQSRLGTWMPFVSSHSRTSSGYDGKRKDWIRLLQVCFILFLFFCFVLFCSFVFGRVALLLPRLECHGAISAHHNLCLP
10:97376260-97376260 G>A	1.0	3879	MELANOMA	-	-	-	-	ALDH18A1	uc010qog.2,p.H416Y|ENST00000371224,p.H527Y|uc001kkz.3,p.H527Y|uc010qoh.2,p.H315Y|NM_001017423,p.H525Y|ENST00000371221,p.H525Y|NM_002860,p.H527Y|uc001kky.3,p.H525Y	protein_coding, processed_transcript	uc010qoh.2	nonsynonymous SNV	exon10	c.C943T	p.H315Y	ILHLLTQEALSIHGVKEAVQLVNTR	ILHLLTQEALSIYGVKEAVQLVNTR	9.0	3.0	-	-	3879_10:97376260-97376260 G>A_ILHLLTQEALSIYGVKEAVQLVNTR
12:117426562-117426562 C>T	1.0	3879	MELANOMA	-	-	-	-	FBXW8	NM_012174,p.S310F|ENST00000309909,p.S376F|uc001twf.1,p.S310F|ENST00000455858,p.S310F|uc001twg.1,p.S376F|NM_153348,p.S376F	protein_coding, processed_transcript	uc001twg.1	nonsynonymous SNV	exon7	c.C1127T	p.S376F	AGDLMYLLKAEDSARTLLYAHGPPV	AGDLMYLLKAEDFARTLLYAHGPPV	7.0	6.0	-	-	3879_12:117426562-117426562 C>T_AGDLMYLLKAEDFARTLLYAHGPPV
4:187540784-187540784 G>A	1.0	3879	MELANOMA	-	-	-	1	FAT1	NM_005245,p.S2319L|ENST00000441802,p.S2319L|uc003izf.3,p.S2319L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003izf.3	nonsynonymous SNV	exon10	c.C6956T	p.S2319L	ATDSDSEPNRGISYQMFGNHSKSHD	ATDSDSEPNRGILYQMFGNHSKSHD	9.0	7.0	-	-	3879_4:187540784-187540784 G>A_ATDSDSEPNRGILYQMFGNHSKSHD
19:49850478-49850478 G>A	1.0	3879	MELANOMA	-	-	-	-	TEAD2	NM_001256658,p.P296L|uc002pnj.4,p.P293L|uc031rls.1,p.P297L|NM_001256662,p.P165L|uc002pni.4,p.P296L|NM_001256659,p.P296L|ENST00000593945,p.P297L|uc010yao.3,p.P165L|uc010emw.4,p.P296L|NM_001256660,p.P297L|uc002pnh.4,p.P297L|ENST00000598810,p.P297L|ENST00000601519,p.P296L|ENST00000377214,p.P296L|ENST00000311227,p.P293L|NM_003598,p.P293L|NM_001256661,p.P297L|uc002png.4,p.P296L|ENST00000539846,p.P165L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rls.1	nonsynonymous SNV	exon10	c.C890T	p.P297L	KKGGLRELYDRGPPHAFFLVKFWAD	KKGGLRELYDRGLPHAFFLVKFWAD	7.0	3.0	-	-	3879_19:49850478-49850478 G>A_KKGGLRELYDRGLPHAFFLVKFWAD
19:47423163-47423163 C>T	1.0	3879	MELANOMA	-	-	-	-	ARHGAP35	uc010ekv.3,p.P411S|NM_004491,p.P411S|ENST00000404338,p.P411S	retained_intron, protein_coding, processed_transcript	uc010ekv.3	nonsynonymous SNV	exon1	c.C1231T	p.P411S	NERIPFDLMDTVPAEQLYEAHLEKL	NERIPFDLMDTVSAEQLYEAHLEKL	8.0	3.0	-	-	3879_19:47423163-47423163 C>T_NERIPFDLMDTVSAEQLYEAHLEKL
X:41203555-41203556 AT>-	1.0	3879	MELANOMA	-	-	-	1	DDX3X	ENST00000457138,p.I294fs|uc011mkr.2,p.I310fs|NM_001356,p.I310fs|uc011mkq.2,p.I294fs|NM_001193416,p.I310fs|uc004dfe.3,p.I310fs|ENST00000399959,p.I310fs|NM_001193417,p.I294fs|uc004dff.3,p.I310fs	protein_coding, processed_transcript	uc011mkr.2	frameshift deletion	exon10	c.928_929del	p.I310fs	CVVYGGADIGQQIRDLERGCHLLVA	CVVYGGADIGQQSRLGTWMPFVSSHSRTSSGYDGKRKDWIRLLQILGVR	9.0	2.0	-	-	3879_X:41203555-41203556 AT>-_CVVYGGADIGQQSRLGTWMPFVSSHSRTSSGYDGKRKDWIRLLQILGVR
21:35469257-35469257 C>T	1.0	3879	MELANOMA	-	-	-	-	SLC5A3	uc021wir.1,p.P587L|uc002yto.3,p.P587L|NM_006933,p.P587L|ENST00000381151,p.P587L	protein_coding	uc021wir.1	nonsynonymous SNV	exon1	c.C1760T	p.P587L	CSENNETINHIIPNGKSEDSIKGLQ	CSENNETINHIILNGKSEDSIKGLQ	9.0	9.0	CD8	-	3879_21:35469257-35469257 C>T_CSENNETINHIILNGKSEDSIKGLQ
4:160277184-160277184 G>-	1.0	3879	MELANOMA	-	-	-	-	RAPGEF2	uc003iqg.4,p.V1450fs|ENST00000264431,p.V1450fs|NM_014247,p.V1450fs	retained_intron, protein_coding, processed_transcript	uc003iqg.4	frameshift deletion	exon23	c.4348delG	p.V1450fs	VARSSDTAGPSSVQQPHGHPTSSRP	VARSSDTAGPSSYSSHMGIPPAAGL	10.0	3.0	-	-	3879_4:160277184-160277184 G>-_VARSSDTAGPSSYSSHMGIPPAAGL
5:52225500-52225500 G>A	1.0	3879	MELANOMA	-	-	-	-	ITGA1	ENST00000282588,p.E914K|NM_181501,p.E914K|uc003jow.3,p.E445K|uc003jou.3,p.E914K	retained_intron, protein_coding, processed_transcript	uc003jow.3	nonsynonymous SNV	exon10	c.G1333A	p.E445K	KILFQFNTSYLMENVTIYLSATSDS	KILFQFNTSYLMKNVTIYLSATSDS	9.0	5.0	-	-	3879_5:52225500-52225500 G>A_KILFQFNTSYLMKNVTIYLSATSDS
X:117707887-117707887 C>T	1.0	3879	MELANOMA	-	-	-	-	DOCK11	uc004eqp.2,p.S432L|ENST00000276204,p.S432L|NM_144658,p.S432L|uc004eqq.2,p.S198L|ENST00000276202,p.S432L	protein_coding, processed_transcript	uc004eqq.2	nonsynonymous SNV	exon6	c.C593T	p.S198L	NPPSVREMLWGSSTQLASDGSPKGS	NPPSVREMLWGSLTQLASDGSPKGS	5.0	10.0	-	-	3879_X:117707887-117707887 C>T_NPPSVREMLWGSLTQLASDGSPKGS
7:139810968-139810968 G>A	1.0	3879	MELANOMA	-	-	-	-	KDM7A	ENST00000397560,p.A452V|ENST00000006967,p.A452V|NM_030647,p.A452V|uc003vvm.3,p.A452V	retained_intron, protein_coding, nonsense_mediated_decay	uc003vvm.3	nonsynonymous SNV	exon11	c.C1355T	p.A452V	KLWMKKELVSEHAFEIPDNVRPGHL	KLWMKKELVSEHVFEIPDNVRPGHL	8.0	3.0	-	-	3879_7:139810968-139810968 G>A_KLWMKKELVSEHVFEIPDNVRPGHL
1:9323858-9323858 C>T	1.0	3879	MELANOMA	-	-	-	-	H6PD	NM_004285,p.L436F|ENST00000602477,p.L447F|NM_001282587,p.L447F|uc001apt.3,p.L436F|ENST00000377403,p.L436F	protein_coding, processed_transcript	uc001apt.3	nonsynonymous SNV	exon5	c.C1306T	p.L436F	PSSWKEMEGPPGLRLFGSPLSDYYA	PSSWKEMEGPPGFRLFGSPLSDYYA	7.0	4.0	-	-	3879_1:9323858-9323858 C>T_PSSWKEMEGPPGFRLFGSPLSDYYA
13:78474753-78474753 G>A	1.0	3879	MELANOMA	-	-	-	-	EDNRB	uc001vkp.1,p.L420F|uc010aez.1,p.L330F|NM_001122659,p.L330F|NM_003991,p.L330F|uc001vkq.1,p.L330F|NM_001201397,p.L420F|NM_000115,p.L330F|uc001vko.2,p.L330F|ENST00000334286,p.L330F|ENST00000377211,p.L420F|ENST00000446573,p.L330F	protein_coding, processed_transcript	uc010aez.1	nonsynonymous SNV	exon5	c.C988T	p.L330F	RREVAKTVFCLVLVFALCWLPLHLS	RREVAKTVFCLVFVFALCWLPLHLS	10.0	4.0	-	-	3879_13:78474753-78474753 G>A_RREVAKTVFCLVFVFALCWLPLHLS
1:149902761-149902761 G>A	1.0	3879	MELANOMA	-	-	-	-	MTMR11	NM_181873,p.H391Y|ENST00000369140,p.H391Y|ENST00000439741,p.H463Y|NM_001145862,p.H463Y|uc001etl.4,p.H463Y|uc001etm.2,p.H391Y	retained_intron, protein_coding, processed_transcript	uc001etm.2	nonsynonymous SNV	exon13	c.C1171T	p.H391Y	DFEFSEFFLLALHDSVRVPDTLTFL	DFEFSEFFLLALYDSVRVPDTLTFL	9.0	5.0	-	-	3879_1:149902761-149902761 G>A_DFEFSEFFLLALYDSVRVPDTLTFL
3:154861315-154861315 G>A	1.0	3879	MELANOMA	-	-	ID=COSM582160;OCCURENCE=1(lung)	-	MME	uc031scb.1,p.G91E	retained_intron, protein_coding, processed_transcript	uc031scb.1	nonsynonymous SNV	exon3	c.G272A	p.G91E	QTMSMGIWKMLWGGFMWKQHLLERV	QTMSMGIWKMLWEGFMWKQHLLERV	6.0	10.0	-	-	3879_3:154861315-154861315 G>A_QTMSMGIWKMLWEGFMWKQHLLERV
1:153914487-153914487 G>A	1.0	3879	MELANOMA	-	-	-	-	DENND4B	NM_014856,p.R305W|ENST00000368646,p.R316W|uc001fdd.1,p.R305W|ENST00000361217,p.R305W	retained_intron, protein_coding, processed_transcript	uc001fdd.1	nonsynonymous SNV	exon6	c.C913T	p.R305W	RALGLLSAVERGRALGGRAVRSRRA	RALGLLSAVERGWALGGRAVRSRRA	9.0	1.0	-	-	3879_1:153914487-153914487 G>A_RALGLLSAVERGWALGGRAVRSRRA
5:56531850-56531850 G>T	1.0	3879	MELANOMA	-	-	-	-	GPBP1	ENST00000454432,p.G157C|ENST00000424459,p.G157C	retained_intron, protein_coding	ENST00000454432	nonsynonymous SNV	exon5	c.G469T	p.G157C	EREPNHNKSLAAGVWGLHAQTHTYP	EREPNHNKSLAACVWGLHAQTHTYP	10.0	2.0	-	-	3879_5:56531850-56531850 G>T_EREPNHNKSLAACVWGLHAQTHTYP
3:49044919-49044919 C>T	1.0	3879	MELANOMA	-	-	-	-	WDR6	ENST00000452875,p.L19F|uc011bby.1,p.L49F|uc003cvj.2,p.L49F|ENST00000488572,p.L19F|ENST00000438660,p.L19F|ENST00000395474,p.L49F|NM_018031,p.L49F|uc011bbx.1,p.L49F|ENST00000415265,p.L19F|ENST00000420783,p.L19F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bby.1	nonsynonymous SNV	exon1	c.C145T	p.L49F	YVWPRATSELILLPVTGLECVGDRL	YVWPRATSELILFPVTGLECVGDRL	6.0	10.0	-	-	3879_3:49044919-49044919 C>T_YVWPRATSELILFPVTGLECVGDRL
5:96126310-96126310 T>C	1.0	3879	MELANOMA	-	-	-	-	ERAP1	uc003kmn.3,p.S453G|NM_001040458,p.S453G|uc010jbm.2,p.S265G|NM_001198541,p.S453G|ENST00000443439,p.S453G|uc003kmm.3,p.S453G|NM_016442,p.S453G|uc003kml.3,p.S453G|ENST00000296754,p.S453G	retained_intron, protein_coding, processed_transcript	uc010jbm.2	nonsynonymous SNV	exon8	c.A793G	p.S265G	GACILNMLREYLSADAFKSGIVQYL	GACILNMLREYLGADAFKSGIVQYL	8.0	7.0	-	-	3879_5:96126310-96126310 T>C_GACILNMLREYLGADAFKSGIVQYL
8:120793302-120793302 A>T	1.0	3879	MELANOMA	-	-	-	-	TAF2	ENST00000378164,p.F748L|uc003you.3,p.F748L|NM_003184,p.F748L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003you.3	nonsynonymous SNV	exon17	c.T2244A	p.F748L	VKTNNFMSFQSYFLQKTMPVAMALL	VKTNNFMSFQSYLLQKTMPVAMALL	9.0	6.0	-	-	3879_8:120793302-120793302 A>T_VKTNNFMSFQSYLLQKTMPVAMALL
6:97339164-97339164 G>A	1.0	3879	MELANOMA	-	-	-	-	NDUFAF4	NM_014165,p.S115F|ENST00000316149,p.S115F|uc003pow.3,p.S115F	protein_coding, processed_transcript	uc003pow.3	nonsynonymous SNV	exon3	c.C344T	p.S115F	MINIKSIPKGKISIVEALTLLNNHK	MINIKSIPKGKIFIVEALTLLNNHK	5.0	6.0	-	-	3879_6:97339164-97339164 G>A_MINIKSIPKGKIFIVEALTLLNNHK
1:45469380-45469380 G>A	1.0	3879	MELANOMA	-	-	-	-	HECTD3	uc001cmx.4,p.S170F|uc009vxk.3,p.S821F|uc001cmy.4,p.S431F|ENST00000372172,p.S821F|ENST00000372168,p.S431F|NM_024602,p.S821F|uc010olh.2,p.S537F	protein_coding, processed_transcript	uc010olh.2	nonsynonymous SNV	exon18	c.C1610T	p.S537F	LGYETTDALPESSTCSSTLFLPHYA	LGYETTDALPESFTCSSTLFLPHYA	7.0	6.0	unscreened	-	3879_1:45469380-45469380 G>A_LGYETTDALPESFTCSSTLFLPHYA
17:58571953-58571953 C>G	1.0	3879	MELANOMA	-	-	-	-	APPBP2	uc010ddl.1,p.A14P|NM_001282476,p.A14P	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ddl.1	nonsynonymous SNV	exon2	c.G40C	p.A14P	FTTRHLLHHCFQALMDHGVKVASVL	FTTRHLLHHCFQPLMDHGVKVASVL	8.0	7.0	-	-	3879_17:58571953-58571953 C>G_FTTRHLLHHCFQPLMDHGVKVASVL
17:58571953-58571953 C>G	1.0	3879	MELANOMA	-	-	-	-	APPBP2	uc002iys.1,p.A85P|ENST00000585368,p.A85P|ENST00000083182,p.A85P|NM_006380,p.A85P	protein_coding, processed_transcript, nonsense_mediated_decay	uc002iys.1	nonsynonymous SNV	exon3	c.G253C	p.A85P	LDKRHLLHHCFQALMDHGVKVASVL	LDKRHLLHHCFQPLMDHGVKVASVL	8.0	7.0	-	-	3879_17:58571953-58571953 C>G_LDKRHLLHHCFQPLMDHGVKVASVL
10:101136922-101136922 C>T	1.0	3879	MELANOMA	-	-	-	-	CNNM1	uc001kpp.4,p.L763F|uc010qpi.2,p.L784F|ENST00000446890,p.L692F|ENST00000370534,p.L419F|uc009xwf.3,p.L763F|NM_020348,p.L763F|ENST00000356713,p.L763F|ENST00000370528,p.L692F|uc031pwy.1,p.L163F|uc009xwg.3,p.L163F	protein_coding, processed_transcript	uc031pwy.1	nonsynonymous SNV	exon6	c.C487T	p.L163F	GSNTQLYSSSNNLYMPDYSVHILSD	GSNTQLYSSSNNFYMPDYSVHILSD	6.0	3.0	-	-	3879_10:101136922-101136922 C>T_GSNTQLYSSSNNFYMPDYSVHILSD
6:157505561-157505561 C>T	1.0	3879	MELANOMA	-	-	-	1	ARID1B	ENST00000319584,p.P643L	retained_intron, protein_coding, processed_transcript	ENST00000319584	nonsynonymous SNV	exon11	c.C1928T	p.P643L	TGDTKKQPKLQPPSPVVQMEPRACD	TGDTKKQPKLQPLSPVVQMEPRACD	9.0	2.0	-	-	3879_6:157505561-157505561 C>T_TGDTKKQPKLQPLSPVVQMEPRACD
12:116435009-116435009 G>A	1.0	3879	MELANOMA	-	-	-	-	MED13L	NM_015335,p.P866S|uc001tvw.3,p.P866S|ENST00000281928,p.P866S	retained_intron, protein_coding, processed_transcript	uc001tvw.3	nonsynonymous SNV	exon15	c.C2596T	p.P866S	YPPTVADLQRMFPTPPSLEQHPAFS	YPPTVADLQRMFSTPPSLEQHPAFS	9.0	2.0	-	-	3879_12:116435009-116435009 G>A_YPPTVADLQRMFSTPPSLEQHPAFS
1:153735225-153735225 C>T	1.0	3879	MELANOMA	-	-	-	-	INTS3	NM_023015,p.S513F|uc001fct.3,p.S513F|ENST00000512605,p.S307F|uc001fcv.3,p.S307F|uc010pec.2,p.S26F|uc001fcw.3,p.S26F|ENST00000435409,p.S513F|ENST00000318967,p.S513F|ENST00000456435,p.S307F|uc010peb.2,p.S307F|uc001fcu.3,p.S205F|uc009wom.3,p.S513F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010pec.2	nonsynonymous SNV	exon3	c.C77T	p.S26F	SPPVEVKIEEPVSMEMDNHMSDKDE	SPPVEVKIEEPVFMEMDNHMSDKDE	9.0	1.0	-	-	3879_1:153735225-153735225 C>T_SPPVEVKIEEPVFMEMDNHMSDKDE
12:120221741-120221741 C>T	1.0	3879	MELANOMA	-	-	-	-	CIT	uc001txj.2,p.D506N|NM_007174,p.D506N|uc001txh.2,p.D40N|ENST00000261833,p.D506N|NM_001206999,p.D506N|ENST00000392521,p.D506N|uc001txi.2,p.D506N	retained_intron, protein_coding, processed_transcript	uc001txj.2	nonsynonymous SNV	exon12	c.G1516A	p.D506N	KASETQRSLLEQDLATYITECSSLK	KASETQRSLLEQNLATYITECSSLK	7.0	7.0	-	-	3879_12:120221741-120221741 C>T_KASETQRSLLEQNLATYITECSSLK
10:81061901-81061901 C>T	1.0	3879	MELANOMA	-	-	-	-	ZMIZ1	uc001kag.2,p.S562F|NM_020338,p.S686F|uc001kaf.2,p.S686F|ENST00000334512,p.S686F	protein_coding, processed_transcript	uc001kag.2	nonsynonymous SNV	exon12	c.C1685T	p.S562F	SHLFVLQLVHRPSVRSVLQGLLKKR	SHLFVLQLVHRPFVRSVLQGLLKKR	9.0	5.0	-	-	3879_10:81061901-81061901 C>T_SHLFVLQLVHRPFVRSVLQGLLKKR
17:64783063-64783063 T>G	1.0	3879	MELANOMA	-	-	-	-	PRKCA	ENST00000413366,p.S562A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000413366	nonsynonymous SNV	exon15	c.T1684G	p.S562A	IMEHNVSYPKSLSKEAVSVCKGLMT	IMEHNVSYPKSLAKEAVSVCKGLMT	8.0	3.0	unscreened	-	3879_17:64783063-64783063 T>G_IMEHNVSYPKSLAKEAVSVCKGLMT
X:31525494-31525494 G>A	1.0	3879	MELANOMA	-	-	-	-	DMD	NM_004022,p.S305F|NM_000109,p.S2757F|NM_004010,p.S2642F|uc004dcy.1,p.S2761F|uc004dcw.2,p.S1421F|NM_004023,p.S305F|NM_004020,p.S305F|uc004dcv.1,p.S305F|NM_004009,p.S2761F|ENST00000359836,p.S305F|ENST00000357033,p.S2765F|NM_004014,p.S36F|uc004dcx.2,p.S1424F|NM_004011,p.S1424F|uc004dcs.1,p.S305F|NM_004006,p.S2765F|uc004dda.1,p.S2765F|uc004dcz.2,p.S2642F|uc004ddb.1,p.S2757F|NM_004013,p.S305F|ENST00000378677,p.S2761F|ENST00000343523,p.S305F|uc004dct.1,p.S305F|ENST00000378707,p.S305F|ENST00000541735,p.S305F|uc004dcq.1,p.S36F|ENST00000358062,p.S461F|NM_004012,p.S1421F|uc004dcu.1,p.S305F|ENST00000474231,p.S305F|uc004dcr.1,p.S305F|NM_004021,p.S305F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004ddb.1	nonsynonymous SNV	exon56	c.C8270T	p.S2757F	HNLDENSQKILRSLEGSDDAVLLQR	HNLDENSQKILRFLEGSDDAVLLQR	8.0	10.0	-	-	3879_X:31525494-31525494 G>A_HNLDENSQKILRFLEGSDDAVLLQR
5:56531850-56531850 G>T	1.0	3879	MELANOMA	-	-	-	-	GPBP1	ENST00000264779,p.G164C|uc003jrk.4,p.G164C|uc003jrj.4,p.G164C|NM_001127235,p.G164C|ENST00000511209,p.G164C|NM_001127236,p.G164C|ENST00000538707,p.G164C|uc003jrh.4,p.G157C|NM_022913,p.G157C|ENST00000506184,p.G157C	retained_intron, protein_coding	uc003jrk.4	nonsynonymous SNV	exon5	c.G490T	p.G164C	EREPNHNKSLAAGVWEYPPNPKSRA	EREPNHNKSLAACVWEYPPNPKSRA	10.0	2.0	-	-	3879_5:56531850-56531850 G>T_EREPNHNKSLAACVWEYPPNPKSRA
12:992113-992113 C>T	1.0	3879	MELANOMA	-	-	-	-	WNK1	ENST00000315939,p.S1126L|NM_001184985,p.S1386L|ENST00000340908,p.S719L|uc021qst.1,p.S1378L|ENST00000535572,p.S879L|uc001qip.4,p.S879L|NM_213655,p.S1378L|NM_014823,p.S879L|ENST00000537687,p.S1386L|ENST00000530271,p.S1624L|uc001qir.4,p.S299L|NM_018979,p.S1126L|uc031qfk.1,p.S1539L|uc021qss.1,p.S1386L|uc001qio.4,p.S1126L	retained_intron, protein_coding, processed_transcript	uc031qfk.1	nonsynonymous SNV	exon16	c.C4616T	p.S1539L	KTSRPKLRILNVSNKGDRVVECQLE	KTSRPKLRILNVLNKGDRVVECQLE	10.0	4.0	-	-	3879_12:992113-992113 C>T_KTSRPKLRILNVLNKGDRVVECQLE
1:109193763-109193763 G>A	1.0	3879	MELANOMA	-	-	-	-	HENMT1	uc009wer.3,p.S156F|ENST00000370032,p.S156F|NM_144584,p.S156F|uc001dvu.4,p.S156F|uc001dvt.4,p.S156F|ENST00000370031,p.S156F|ENST00000402983,p.S156F|ENST00000420055,p.S156F|NM_001102592,p.S156F	protein_coding, processed_transcript	uc009wer.3	nonsynonymous SNV	exon6	c.C467T	p.S156F	RFPEVVFGYLSPSMIVISTPNSEFN	RFPEVVFGYLSPFMIVISTPNSEFN	5.0	4.0	-	-	3879_1:109193763-109193763 G>A_RFPEVVFGYLSPFMIVISTPNSEFN
15:72553902-72553902 G>A	1.0	3879	MELANOMA	-	-	-	-	PARP6	NM_020214,p.P181L|uc002auc.3,p.P181L|uc031qsq.1,p.P46L|ENST00000569795,p.P181L|ENST00000567440,p.P181L|ENST00000565443,p.P181L|ENST00000260376,p.P181L|uc002auf.1,p.P181L|uc002aua.3,p.P46L|ENST00000287196,p.P181L|uc031qsp.1,p.P46L|ENST00000419739,p.P181L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qsq.1	nonsynonymous SNV	exon6	c.C137T	p.P46L	KFRAGLSIFSPIPKSPSFPIIQDSM	KFRAGLSIFSPILKSPSFPIIQDSM	9.0	7.0	-	-	3879_15:72553902-72553902 G>A_KFRAGLSIFSPILKSPSFPIIQDSM
6:112400838-112400838 C>T	1.0	3879	MELANOMA	-	-	-	-	TUBE1	NM_016262,p.G149E|ENST00000368662,p.G149E|ENST00000605457,p.G149E|uc003pvq.3,p.G149E	protein_coding	uc003pvq.3	nonsynonymous SNV	exon6	c.G446A	p.G149E	CLQCFFIIHSMGGGTGSGLGTFLLK	CLQCFFIIHSMGEGTGSGLGTFLLK	8.0	7.0	-	-	3879_6:112400838-112400838 C>T_CLQCFFIIHSMGEGTGSGLGTFLLK
6:29581069-29581069 G>A	1.0	3879	MELANOMA	-	-	-	-	GABBR1	uc011dls.1,p.T506I|uc003nmt.4,p.T506I|uc011dlr.2,p.T329I|NM_021904,p.T444I|NM_001470,p.T506I|uc003nms.4,p.T389I|uc003nmp.4,p.T389I|NM_021903,p.T389I|ENST00000494877,p.T506I|ENST00000377034,p.T506I|ENST00000355973,p.T389I|ENST00000377016,p.T444I|ENST00000377012,p.T389I|uc003nmu.4,p.T444I|ENST00000376977,p.T506I	retained_intron, protein_coding, nonsense_mediated_decay	uc011dls.1	nonsynonymous SNV	exon11	c.C1517T	p.T506I	RLEDFNYNNQTITDQIYRAMNSSSF	RLEDFNYNNQTIIDQIYRAMNSSSF	10.0	9.0	-	-	3879_6:29581069-29581069 G>A_RLEDFNYNNQTIIDQIYRAMNSSSF
20:61511624-61511624 G>A	1.0	3879	MELANOMA	-	-	-	-	DIDO1	NM_001193369,p.P1895L|uc002yds.2,p.P1895L|ENST00000266070,p.P1895L|uc002ydr.2,p.P1895L|ENST00000395343,p.P1895L|NM_033081,p.P1895L	protein_coding	uc002yds.2	nonsynonymous SNV	exon16	c.C5684T	p.P1895L	GGAPFQFGGQRRPLLSQLKGPRGGP	GGAPFQFGGQRRLLLSQLKGPRGGP	9.0	4.0	-	-	3879_20:61511624-61511624 G>A_GGAPFQFGGQRRLLLSQLKGPRGGP
14:76259262-76259262 C>T	1.0	3879	MELANOMA	-	-	-	-	TTLL5	ENST00000554510,p.S506L|uc001xrz.3,p.S572L|ENST00000556893,p.S548L|uc001xrx.3,p.S997L|ENST00000298832,p.S997L|NM_015072,p.S997L	retained_intron, protein_coding, processed_transcript	uc001xrz.3	nonsynonymous SNV	exon13	c.C1715T	p.S572L	QKLSRPSSAKAGSCYLNKHHSGIAK	QKLSRPSSAKAGLCYLNKHHSGIAK	7.0	9.0	-	-	3879_14:76259262-76259262 C>T_QKLSRPSSAKAGLCYLNKHHSGIAK
20:20582422-20582422 G>A	1.0	3879	MELANOMA	-	-	-	-	RALGAPA2	uc010zsg.2,p.P104S|NM_020343,p.P703S|uc002wrz.3,p.P703S|uc002wry.3,p.P318S|ENST00000202677,p.P703S	protein_coding, processed_transcript	uc010zsg.2	nonsynonymous SNV	exon13	c.C310T	p.P104S	VGRSFSLSWRSHPDVTEPMRFRSAT	VGRSFSLSWRSHSDVTEPMRFRSAT	7.0	5.0	-	-	3879_20:20582422-20582422 G>A_VGRSFSLSWRSHSDVTEPMRFRSAT
20:34143853-34143853 C>T	1.0	3879	MELANOMA	-	-	-	-	ERGIC3	ENST00000357394,p.P261L|uc002xct.3,p.P256L|ENST00000279052,p.P261L|NM_198398,p.P261L|ENST00000447986,p.P271L|NM_015966,p.P256L|ENST00000348547,p.P256L|uc002xcs.3,p.P261L|uc010zvg.2,p.P256L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zvg.2	nonsynonymous SNV	exon9	c.C767T	p.P256L	HYIQHLSFGEDYPGIVNPLDHTNVT	HYIQHLSFGEDYLGIVNPLDHTNVT	9.0	3.0	-	-	3879_20:34143853-34143853 C>T_HYIQHLSFGEDYLGIVNPLDHTNVT
1:196695714-196695714 T>A	1.0	3879	MELANOMA	-	-	-	-	CFH	NM_000186,p.F663Y|uc001gtj.4,p.F663Y|ENST00000367429,p.F663Y	retained_intron, protein_coding, ambiguous_orf	uc001gtj.4	nonsynonymous SNV	exon13	c.T1988A	p.F663Y	HSEVVEYYCNPRFLMKGPNKIQCVD	HSEVVEYYCNPRYLMKGPNKIQCVD	6.0	1.0	-	-	3879_1:196695714-196695714 T>A_HSEVVEYYCNPRYLMKGPNKIQCVD
1:115256529-115256529 T>C	1.0	3879	MELANOMA	-	-	ID=COSM584;OCCURENCE=4(soft_tissue),3(ovary),4(endometrium),474(skin),7(breast),1(small_intestine),7(urinary_tract),7(adrenal_gland),1(liver),4(eye),2(pancreas),4(biliary_tract),49(large_intestine),5(central_nervous_system),49(NS),289(thyroid),12(lung),9(meninges),3(testis),69(haematopoietic_and_lymphoid_tissue)	1	NRAS	NM_002524,p.Q61R|uc009wgu.3,p.Q61R|ENST00000369535,p.Q61R	protein_coding	uc009wgu.3	nonsynonymous SNV	exon3	c.A182G	p.Q61R	ETCLLDILDTAGQEEYSAMRDQYMR	ETCLLDILDTAGREEYSAMRDQYMR	9.0	5.0	-	-	3879_1:115256529-115256529 T>C_ETCLLDILDTAGREEYSAMRDQYMR
3:196532241-196532241 C>A	1.0	3879	MELANOMA	-	-	-	-	PAK2	uc003fwy.4,p.S152Y|ENST00000327134,p.S152Y|NM_002577,p.S152Y	retained_intron, protein_coding, processed_transcript	uc003fwy.4	nonsynonymous SNV	exon5	c.C455A	p.S152Y	LSFTPPEKDGFPSGTPALNAKGTEA	LSFTPPEKDGFPYGTPALNAKGTEA	9.0	9.0	-	-	3879_3:196532241-196532241 C>A_LSFTPPEKDGFPYGTPALNAKGTEA
18:33734937-33734937 C>T	1.0	3879	MELANOMA	-	-	-	-	ELP2	ENST00000351393,p.P391L|ENST00000350494,p.P412L|NM_001242876,p.P412L|ENST00000539560,p.P417L|NM_001242875,p.P482L|ENST00000442325,p.P482L|ENST00000423854,p.P347L|uc002kzm.2,p.P391L|uc002kzn.2,p.P347L|uc002kzo.2,p.P347L|ENST00000542824,p.P347L|uc002kzk.2,p.P417L|NM_001242879,p.P347L|NM_001242878,p.P347L|ENST00000358232,p.P417L|uc010xch.2,p.P412L|uc010xcg.2,p.P482L|NM_001242877,p.P391L|NM_018255,p.P417L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xch.2	nonsynonymous SNV	exon11	c.C1235T	p.P412L	TVGTDQTTRLFAPWKRKDQSQVTWH	TVGTDQTTRLFALWKRKDQSQVTWH	10.0	9.0	-	-	3879_18:33734937-33734937 C>T_TVGTDQTTRLFALWKRKDQSQVTWH
14:76259262-76259262 C>T	1.0	3879	MELANOMA	-	-	-	-	TTLL5	uc001xsa.3,p.S71L|uc010ask.2,p.S1012L|ENST00000557636,p.S1012L	retained_intron, protein_coding, processed_transcript	uc010ask.2	nonsynonymous SNV	exon28	c.C3035T	p.S1012L	KLSRPSSAKAAGSCYLNKHHSGIAK	KLSRPSSAKAAGLCYLNKHHSGIAK	7.0	9.0	-	-	3879_14:76259262-76259262 C>T_KLSRPSSAKAAGLCYLNKHHSGIAK
10:126716141-126716141 G>A	0.0	3879	MELANOMA	-	-	-	-	CTBP2	NM_022802,p.P63L|ENST00000309035,p.P63L|uc001lie.4,p.P63L	retained_intron, protein_coding, processed_transcript	uc001lie.4	nonsynonymous SNV	exon1	c.C188T	p.P63L	FEPNHRPQDAALPVAAEPYLYREAV	FEPNHRPQDAALLVAAEPYLYREAV	10.0	5.0	unscreened	-	3879_10:126716141-126716141 G>A_FEPNHRPQDAALLVAAEPYLYREAV
7:150752459-150752459 A>C	1.0	3879	MELANOMA	-	-	-	-	CDK5	NM_004935,p.V162G|uc003wis.2,p.V130G|ENST00000485972,p.V162G|uc003wir.2,p.V162G|ENST00000297518,p.V130G|NM_001164410,p.V130G	retained_intron, protein_coding	uc003wis.2	nonsynonymous SNV	exon7	c.T389G	p.V130G	AFGIPVRCYSAEVVTLWYRPPDVLF	AFGIPVRCYSAEGVTLWYRPPDVLF	5.0	9.0	-	-	3879_7:150752459-150752459 A>C_AFGIPVRCYSAEGVTLWYRPPDVLF
2:80646628-80646628 C>T	1.0	3879	MELANOMA	-	-	-	2	CTNNA2	uc010yse.2,p.P398S|NM_001282599,p.P77S|NM_001282598,p.P432S|NM_001282597,p.P398S|NM_004389,p.P398S|ENST00000541047,p.P398S|ENST00000540488,p.P398S|uc010ysh.2,p.P398S|ENST00000496558,p.P398S|ENST00000466387,p.P398S|ENST00000409550,p.P63S|ENST00000402739,p.P398S|NM_001282600,p.P30S|uc010ysg.2,p.P398S|ENST00000361291,p.P432S|uc010ysi.2,p.P30S|uc010ysf.2,p.P398S|ENST00000343114,p.P77S|NM_001164883,p.P398S	retained_intron, protein_coding, processed_transcript	uc010ysi.2	nonsynonymous SNV	exon3	c.C88T	p.P30S	DHISDSFLETNVPLLVLIEAAKSGN	DHISDSFLETNVSLLVLIEAAKSGN	6.0	3.0	-	-	3879_2:80646628-80646628 C>T_DHISDSFLETNVSLLVLIEAAKSGN
19:44792165-44792165 G>A	1.0	3879	MELANOMA	-	-	-	-	ZNF235	uc002ozb.4,p.H471Y|NM_004234,p.H475Y|ENST00000291182,p.H475Y|uc002oza.4,p.H475Y	retained_intron, protein_coding, nonsense_mediated_decay	uc002ozb.4	nonsynonymous SNV	exon5	c.C1411T	p.H471Y	ECGKCFSLSFNLHSHQRVHTGEKPY	ECGKCFSLSFNLYSHQRVHTGEKPY	5.0	8.0	-	-	3879_19:44792165-44792165 G>A_ECGKCFSLSFNLYSHQRVHTGEKPY
1:31447635-31447635 G>A	1.0	3879	MELANOMA	-	-	-	-	PUM1	ENST00000440538,p.P458S|ENST00000424085,p.P215S|uc001bsh.1,p.P457S|uc001bsf.1,p.P123S|NM_001020658,p.P457S|ENST00000373747,p.P458S|ENST00000257075,p.P457S|uc001bsj.1,p.P458S|uc001bsk.1,p.P493S|ENST00000373741,p.P493S|ENST00000426105,p.P457S|uc001bsi.1,p.P457S|uc010oga.1,p.P361S|ENST00000423018,p.P361S|ENST00000373742,p.P398S|NM_014676,p.P457S|uc010ogb.1,p.P398S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ogb.1	nonsynonymous SNV	exon8	c.C1192T	p.P398S	LAAAATLGPAVVPHQYYGVTPWGVY	LAAAATLGPAVVSHQYYGVTPWGVY	10.0	4.0	-	-	3879_1:31447635-31447635 G>A_LAAAATLGPAVVSHQYYGVTPWGVY
7:30634583-30634585 CTG>-	1.0	3879	MELANOMA	-	-	ID=COSM1724763;OCCURENCE=2(NS)	-	GARS	NM_002047,p.16_16del|ENST00000389266,p.16_16del|ENST00000454308,p.16_16del|uc003tbm.3,p.16_16del	retained_intron, protein_coding, nonsense_mediated_decay	uc003tbm.3	nonframeshift deletion	exon1	c.46_48del	p.16_16del	PRPVLLRGARAALLLLLPPRLLARP	PRPVLLRGARAALLLLPPRLLARPS	10.0	1.0	unscreened	-	3879_7:30634583-30634585 CTG>-_PRPVLLRGARAALLLLPPRLLARPS
3:58849286-58849286 C>T	1.0	3879	MELANOMA	-	-	-	-	C3orf67	ENST00000472469,p.E313K|uc003dkw.3,p.E301K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003dkw.3	nonsynonymous SNV	exon11	c.G901A	p.E301K	SEDDFYGGDSSEEVHCLISEVVLKH	SEDDFYGGDSSEKVHCLISEVVLKH	7.0	10.0	-	-	3879_3:58849286-58849286 C>T_SEDDFYGGDSSEKVHCLISEVVLKH
1:36354073-36354073 C>T	1.0	3879	MELANOMA	-	-	-	-	AGO1	uc001bzl.3,p.P24L|ENST00000373204,p.P24L|NM_012199,p.P24L	protein_coding	uc001bzl.3	nonsynonymous SNV	exon2	c.C71T	p.P24L	AYLPPLQQVFQAPRRPGIGTVGKPI	AYLPPLQQVFQALRRPGIGTVGKPI	8.0	2.0	unscreened	-	3879_1:36354073-36354073 C>T_AYLPPLQQVFQALRRPGIGTVGKPI
1:64643309-64643309 G>A	1.0	3879	MELANOMA	-	-	-	-	ROR1	ENST00000371079,p.E529K|NM_005012,p.E529K|uc001dbj.3,p.E529K	protein_coding, processed_transcript	uc001dbj.3	nonsynonymous SNV	exon9	c.G1585A	p.E529K	WTEFQQEASLMAELHHPNIVCLLGA	WTEFQQEASLMAKLHHPNIVCLLGA	6.0	7.0	-	-	3879_1:64643309-64643309 G>A_WTEFQQEASLMAKLHHPNIVCLLGA
10:29812805-29812805 G>A	1.0	3879	MELANOMA	-	-	-	-	SVIL	ENST00000375398,p.S913F|uc031ptq.1,p.S881F|NM_003174,p.S487F|uc001iut.1,p.S913F|ENST00000375400,p.S487F|uc001iuu.1,p.S487F|NM_021738,p.S913F|ENST00000355867,p.S913F	protein_coding, processed_transcript	uc031ptq.1	nonsynonymous SNV	exon11	c.C2642T	p.S881F	DHNASATDYKFSSSIENSDSPVRSI	DHNASATDYKFSFSIENSDSPVRSI	9.0	4.0	-	-	3879_10:29812805-29812805 G>A_DHNASATDYKFSFSIENSDSPVRSI
8:90937078-90937078 C>T	1.0	3879	MELANOMA	-	-	-	-	OSGIN2	uc003yeh.3,p.P323L|NM_001126111,p.P323L|ENST00000297438,p.P279L|NM_004337,p.P279L|uc003yeg.3,p.P279L|ENST00000451899,p.P323L	protein_coding	uc003yeh.3	nonsynonymous SNV	exon6	c.C968T	p.P323L	SPAHLEIEGEDFPFVFHSMPEFGAA	SPAHLEIEGEDFLFVFHSMPEFGAA	7.0	6.0	-	-	3879_8:90937078-90937078 C>T_SPAHLEIEGEDFLFVFHSMPEFGAA
7:72857136-72857136 G>A	1.0	3879	MELANOMA	-	-	-	-	BAZ1B	ENST00000339594,p.S1338F|uc003tyc.3,p.S1338F|ENST00000404251,p.S1338F|NM_032408,p.S1338F	retained_intron, protein_coding	uc003tyc.3	nonsynonymous SNV	exon18	c.C4013T	p.S1338F	EVDELVLQTKRSSRRQSLELQKCEE	EVDELVLQTKRSFRRQSLELQKCEE	9.0	8.0	-	-	3879_7:72857136-72857136 G>A_EVDELVLQTKRSFRRQSLELQKCEE
1:186901920-186901920 C>T	1.0	3879	MELANOMA	-	-	-	-	PLA2G4A	uc010pos.2,p.S135L|ENST00000442353,p.S135L	protein_coding, processed_transcript	uc010pos.2	nonsynonymous SNV	exon6	c.C404T	p.S135L	IFNQVPVVAILGSGGGFRAMVGFSG	IFNQVPVVAILGLGGGFRAMVGFSG	9.0	8.0	-	-	3879_1:186901920-186901920 C>T_IFNQVPVVAILGLGGGFRAMVGFSG
1:186901920-186901920 C>T	1.0	3879	MELANOMA	-	-	-	-	PLA2G4A	NM_024420,p.S195L|ENST00000367466,p.S195L|uc001gsc.3,p.S195L	protein_coding, processed_transcript	uc001gsc.3	nonsynonymous SNV	exon8	c.C584T	p.S195L	SARDVPVVAILGSGGGFRAMVGFSG	SARDVPVVAILGLGGGFRAMVGFSG	9.0	8.0	-	-	3879_1:186901920-186901920 C>T_SARDVPVVAILGLGGGFRAMVGFSG
6:109965870-109965870 G>A	1.0	3879	MELANOMA	-	-	-	-	AK9	ENST00000448084,p.P184S|NM_001145128,p.P261S|ENST00000368948,p.P261S|ENST00000285397,p.P261S|uc003ptn.2,p.P261S|uc003ptr.4,p.P261S|ENST00000424296,p.P261S|NM_145025,p.P261S	retained_intron, protein_coding	uc003ptr.4	nonsynonymous SNV	exon9	c.C781T	p.P261S	LQTLEEVMAEHNPQYLIELNGNKPA	LQTLEEVMAEHNSQYLIELNGNKPA	5.0	4.0	-	-	3879_6:109965870-109965870 G>A_LQTLEEVMAEHNSQYLIELNGNKPA
17:59945310-59945310 A>T	1.0	3879	MELANOMA	-	-	-	-	INTS2	ENST00000444766,p.F1110Y|ENST00000251334,p.F1102Y|NM_020748,p.F1110Y|uc002izm.3,p.F1102Y|uc002izn.3,p.F1110Y	retained_intron, protein_coding	uc002izn.3	nonsynonymous SNV	exon24	c.T3329A	p.F1110Y	AFFMPTLPSLVSFCRAFPPLYEDIM	AFFMPTLPSLVSYCRAFPPLYEDIM	7.0	8.0	-	-	3879_17:59945310-59945310 A>T_AFFMPTLPSLVSYCRAFPPLYEDIM
10:54041914-54041914 T>C	1.0	3879	MELANOMA	-	-	-	-	PRKG1	uc001jjo.3,p.V516A|ENST00000373980,p.V516A|NM_001098512,p.V501A|uc001jjm.3,p.V501A|ENST00000401604,p.V501A|ENST00000373985,p.V489A|NM_006258,p.V516A|ENST00000373975,p.V219A|uc009xow.2,p.V219A	protein_coding	uc009xow.2	nonsynonymous SNV	exon11	c.T656C	p.V219A	NLILDHRGYAKLVDFGFAKKIGFGK	NLILDHRGYAKLADFGFAKKIGFGK	8.0	4.0	-	-	3879_10:54041914-54041914 T>C_NLILDHRGYAKLADFGFAKKIGFGK
16:90097710-90097710 G>A	1.0	3879	MELANOMA	-	-	-	-	GAS8	uc010vpv.1,p.E3K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vpv.1	nonsynonymous SNV	exon2	c.G7A	p.E3K	MVEEHVSRIREELDR	MVKEHVSRIREELDR	9.0	5.0	-	-	3879_16:90097710-90097710 G>A_MVKEHVSRIREELDR
6:17675906-17675906 G>A	1.0	3879	MELANOMA	-	-	-	-	NUP153	NM_001278209,p.P144S|ENST00000537253,p.P144S|uc003ncd.2,p.P144S|NM_001278210,p.P144S|uc011dje.2,p.P144S|uc010jpl.2,p.P144S|ENST00000262077,p.P144S|NM_005124,p.P144S	protein_coding	uc011dje.2	nonsynonymous SNV	exon3	c.C430T	p.P144S	HRSHLNFSMLESPALHCQPSTSSAF	HRSHLNFSMLESSALHCQPSTSSAF	9.0	9.0	-	-	3879_6:17675906-17675906 G>A_HRSHLNFSMLESSALHCQPSTSSAF
20:35173397-35173397 C>T	1.0	3879	MELANOMA	-	-	-	-	MYL9	ENST00000279022,p.A37V|uc002xfl.2,p.A37V|uc002xfm.2,p.A37V|NM_006097,p.A37V|NM_181526,p.A37V|ENST00000346786,p.A37V	protein_coding	uc002xfm.2	nonsynonymous SNV	exon2	c.C110T	p.A37V	MFDQSQIQEFKEAFNMIDQNRDGFI	MFDQSQIQEFKEVFNMIDQNRDGFI	6.0	3.0	-	-	3879_20:35173397-35173397 C>T_MFDQSQIQEFKEVFNMIDQNRDGFI
14:52957681-52957681 G>A	1.0	3879	MELANOMA	-	-	-	-	TXNDC16	ENST00000281741,p.L267F|uc001wzs.3,p.L267F|NM_020784,p.L267F|uc010tqu.2,p.L262F|NM_001160047,p.L262F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tqu.2	nonsynonymous SNV	exon10	c.C784T	p.L262F	VAEDPQQVSTVHLQLGLPLVFIVSQ	VAEDPQQVSTVHFQLGLPLVFIVSQ	6.0	6.0	-	-	3879_14:52957681-52957681 G>A_VAEDPQQVSTVHFQLGLPLVFIVSQ
1:215785212-215785212 T>C	1.0	3879	MELANOMA	-	-	-	-	KCTD3	uc009xdn.3,p.V228A|uc001hkt.3,p.V504A|NM_016121,p.V504A|uc001hks.3,p.V504A|uc010pub.2,p.V402A|ENST00000259154,p.V504A	protein_coding, processed_transcript	uc010pub.2	nonsynonymous SNV	exon15	c.T1205C	p.V402A	GERDDQQVFIQKVVPITNKLFVRLS	GERDDQQVFIQKAVPITNKLFVRLS	10.0	7.0	-	-	3879_1:215785212-215785212 T>C_GERDDQQVFIQKAVPITNKLFVRLS
7:129350280-129350280 C>T	1.0	3879	MELANOMA	-	-	-	-	NRF1	ENST00000539636,p.L117F|uc003vpb.3,p.L278F|NM_001040110,p.L278F|ENST00000393232,p.L278F|uc003vpa.3,p.L278F|uc011kpa.2,p.L117F|ENST00000311967,p.L278F|NM_001293164,p.L117F|uc003voz.3,p.L278F|NM_001293163,p.L278F|NM_005011,p.L278F|ENST00000223190,p.L278F|ENST00000393230,p.L278F|ENST00000393231,p.L278F	protein_coding, processed_transcript	uc011kpa.2	nonsynonymous SNV	exon6	c.C349T	p.L117F	VKNCYKQHGREDLLYAFEDQQTQTQ	VKNCYKQHGREDFLYAFEDQQTQTQ	7.0	2.0	-	-	3879_7:129350280-129350280 C>T_VKNCYKQHGREDFLYAFEDQQTQTQ
1:242042461-242042461 C>T	1.0	3879	MELANOMA	-	-	-	-	EXO1	ENST00000518483,p.S642F|ENST00000348581,p.S642F|uc001hzh.3,p.S642F|NM_130398,p.S642F|NM_003686,p.S642F|ENST00000366548,p.S642F|uc021plj.1,p.S642F|uc009xgq.3,p.S641F|uc021plk.1,p.S642F|NM_006027,p.S642F	protein_coding, processed_transcript	uc021plk.1	nonsynonymous SNV	exon11	c.C1925T	p.S642F	LQQFRRKSDSPTSLPENNMSDVSQL	LQQFRRKSDSPTFLPENNMSDVSQL	8.0	8.0	-	-	3879_1:242042461-242042461 C>T_LQQFRRKSDSPTFLPENNMSDVSQL
8:61777788-61777788 C>T	1.0	3879	MELANOMA	-	-	-	-	CHD7	uc022aux.1,p.L715F|uc003xue.3,p.L2764F|ENST00000423902,p.L2764F|ENST00000524602,p.L715F|NM_017780,p.L2764F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022aux.1	nonsynonymous SNV	exon5	c.C2143T	p.L715F	GMDLTSLQNLQNLQSLQLAGLMGFP	GMDLTSLQNLQNFQSLQLAGLMGFP	6.0	7.0	-	-	3879_8:61777788-61777788 C>T_GMDLTSLQNLQNFQSLQLAGLMGFP
11:72019582-72019582 G>A	1.0	3879	MELANOMA	-	-	-	-	CLPB	uc010rqx.3,p.S337L|ENST00000340729,p.S323L|uc010rqz.2,p.S181L|ENST00000535477,p.S352L|uc001osj.4,p.S382L|ENST00000538039,p.S352L|ENST00000294053,p.S382L|NM_030813,p.S382L|NM_001258392,p.S352L|uc001osk.4,p.S352L|NM_001258393,p.S323L|ENST00000437826,p.S337L|ENST00000535990,p.S387L|ENST00000543042,p.S181L|uc010rqy.3,p.S323L|NM_001258394,p.S337L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010rqz.2	nonsynonymous SNV	exon7	c.C542T	p.S181L	DEEHPLVFLFLGSSGIGKTELAKQT	DEEHPLVFLFLGLSGIGKTELAKQT	7.0	5.0	-	-	3879_11:72019582-72019582 G>A_DEEHPLVFLFLGLSGIGKTELAKQT
6:36464515-36464515 G>A	1.0	3879	MELANOMA	-	-	-	-	STK38	uc003omh.3,p.P414S|uc003omg.3,p.P414S|ENST00000229812,p.P414S|NM_007271,p.P414S|uc003omi.3,p.P414S	protein_coding	uc003omi.3	nonsynonymous SNV	exon13	c.C1240T	p.P414S	KSIDDTSNFDEFPESDILKPTVATS	KSIDDTSNFDEFSESDILKPTVATS	8.0	9.0	-	-	3879_6:36464515-36464515 G>A_KSIDDTSNFDEFSESDILKPTVATS
X:132437278-132437278 G>A	1.0	3879	MELANOMA	-	-	-	-	GPC4	NM_001448,p.L462F|uc011mvg.1,p.L392F|ENST00000370828,p.L462F|ENST00000535467,p.L392F|uc004exc.1,p.L462F	protein_coding	uc011mvg.1	nonsynonymous SNV	exon8	c.C1174T	p.L392F	VQVDTSKPDILILRQIMALRVMTSK	VQVDTSKPDILIFRQIMALRVMTSK	5.0	10.0	-	-	3879_X:132437278-132437278 G>A_VQVDTSKPDILIFRQIMALRVMTSK
9:5968768-5968768 G>A	1.0	3879	MELANOMA	-	-	-	-	KIAA2026	uc003zjq.4,p.P488L|ENST00000513355,p.P421L|NM_001017969,p.P488L|ENST00000381461,p.P488L|ENST00000399933,p.P488L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003zjq.4	nonsynonymous SNV	exon3	c.C1463T	p.P488L	FCGADVRIYKQRPFQAPEFPIPPIK	FCGADVRIYKQRLFQAPEFPIPPIK	8.0	6.0	-	-	3879_9:5968768-5968768 G>A_FCGADVRIYKQRLFQAPEFPIPPIK
17:64783063-64783063 T>G	1.0	3879	MELANOMA	-	-	-	-	PRKCA	NM_002737,p.S562A|uc002jfp.1,p.S562A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jfp.1	nonsynonymous SNV	exon15	c.T1684G	p.S562A	IMEHNVSYPKSLSKEAVSICKGLMT	IMEHNVSYPKSLAKEAVSICKGLMT	8.0	3.0	-	-	3879_17:64783063-64783063 T>G_IMEHNVSYPKSLAKEAVSICKGLMT
19:617427-617427 G>C	1.0	3879	MELANOMA	-	-	-	-	POLRMT	uc002lpf.1,p.P1212R|NM_005035,p.P1212R|ENST00000588649,p.P1212R	retained_intron, protein_coding, processed_transcript	uc002lpf.1	nonsynonymous SNV	exon20	c.C3635G	p.P1212R	EASQLKETLQAVPKPGAFDLEQVKR	EASQLKETLQAVRKPGAFDLEQVKR	7.0	2.0	-	-	3879_19:617427-617427 G>C_EASQLKETLQAVRKPGAFDLEQVKR
22:32179902-32179902 C>T	1.0	3879	MELANOMA	-	-	ID=COSM1415903,COSM1415904;OCCURENCE=1(large_intestine)	-	DEPDC5	ENST00000400246,p.R165C|NM_014662,p.R165C|ENST00000266091,p.R165C|uc011alt.2,p.R137C|ENST00000400248,p.R165C|ENST00000382111,p.R165C|NM_001242896,p.R165C|uc003als.3,p.R165C|ENST00000535622,p.R165C|uc011als.2,p.R165C|ENST00000400249,p.R165C|ENST00000400242,p.R165C|ENST00000382105,p.R165C|NM_001007188,p.R165C|NM_001136029,p.R165C|ENST00000382112,p.R165C|uc003alt.3,p.R165C|uc003alr.2,p.R165C|NM_001242897,p.R165C|ENST00000536766,p.R137C|uc011alu.2,p.R165C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011alu.2	nonsynonymous SNV	exon9	c.C493T	p.R165C	CGYISEDTRVVFRSTSAMVYIFIQM	CGYISEDTRVVFCSTSAMVYIFIQM	8.0	5.0	-	-	3879_22:32179902-32179902 C>T_CGYISEDTRVVFCSTSAMVYIFIQM
19:18965940-18965940 C>T	1.0	3879	MELANOMA	-	-	-	-	UPF1	uc002nkf.3,p.A478V|uc002nkg.3,p.A489V|NM_002911,p.A478V|ENST00000599848,p.A489V|ENST00000262803,p.A478V|NM_001297549,p.A489V	retained_intron, protein_coding, processed_transcript	uc002nkg.3	nonsynonymous SNV	exon11	c.C1466T	p.A489V	QGLPDLNHSQVYAVKTVLQRPLSLI	QGLPDLNHSQVYVVKTVLQRPLSLI	8.0	5.0	-	-	3879_19:18965940-18965940 C>T_QGLPDLNHSQVYVVKTVLQRPLSLI
16:4802625-4802625 G>A	1.0	3879	MELANOMA	-	-	-	-	ZNF500	uc002cxo.1,p.H191Y|ENST00000545009,p.H399Y|NM_021646,p.H399Y|uc002cxp.1,p.H399Y|uc010uxt.1,p.H399Y|ENST00000219478,p.H399Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc010uxt.1	nonsynonymous SNV	exon6	c.C1195T	p.H399Y	GKRFSQSSSLVIHRRTHSGERPYAC	GKRFSQSSSLVIYRRTHSGERPYAC	6.0	8.0	-	-	3879_16:4802625-4802625 G>A_GKRFSQSSSLVIYRRTHSGERPYAC
16:90097710-90097710 G>A	1.0	3879	MELANOMA	-	-	-	-	GAS8	NM_001481,p.E32K|ENST00000268699,p.E32K|uc010vpt.1,p.E32K|uc002fqi.1,p.E32K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vpt.1	nonsynonymous SNV	exon3	c.G94A	p.E32K	GLAPEDMSKEQVEEHVSRIREELDR	GLAPEDMSKEQVKEHVSRIREELDR	9.0	5.0	-	-	3879_16:90097710-90097710 G>A_GLAPEDMSKEQVKEHVSRIREELDR
19:12187395-12187395 T>A	1.0	3879	MELANOMA	-	-	-	-	ZNF844	uc010dym.1,p.F330Y|ENST00000439326,p.F487Y|NM_001136501,p.F487Y|uc002mtb.2,p.F487Y	protein_coding	uc010dym.1	nonsynonymous SNV	exon3	c.T989A	p.F330Y	PMNVSSVVKPSFFPLPFDIMKGLTL	PMNVSSVVKPSFYPLPFDIMKGLTL	5.0	7.0	unscreened	-	3879_19:12187395-12187395 T>A_PMNVSSVVKPSFYPLPFDIMKGLTL
1:31898664-31898664 C>G	1.0	3879	MELANOMA	-	-	-	-	SERINC2	ENST00000536859,p.L176V|NM_018565,p.L176V|NM_001199037,p.L176V|uc021okm.1,p.L181V|uc001bsu.3,p.L117V|NM_178865,p.L172V|NM_001199038,p.L181V|ENST00000536384,p.L176V|ENST00000373710,p.L181V|uc001bst.3,p.L172V|ENST00000373709,p.L172V|uc010ogg.2,p.L176V|NM_001199039,p.L117V|uc010ogh.2,p.L176V	protein_coding, processed_transcript	uc021okm.1	nonsynonymous SNV	exon6	c.C541G	p.L181V	FYFGVVGSFLFILIQLVLLIDFAHS	FYFGVVGSFLFIVIQLVLLIDFAHS	6.0	6.0	-	-	3879_1:31898664-31898664 C>G_FYFGVVGSFLFIVIQLVLLIDFAHS
1:32096389-32096389 G>A	1.0	3879	MELANOMA	-	-	-	-	PEF1	ENST00000373703,p.S227F|uc021okq.1,p.S92F|NM_012392,p.S227F|uc021okp.1,p.S157F|uc001bth.2,p.S227F	protein_coding, processed_transcript	uc021okq.1	nonsynonymous SNV	exon4	c.C275T	p.S92F	YNLSPQFTQLLVSRYCPRSANPAMQ	YNLSPQFTQLLVFRYCPRSANPAMQ	7.0	8.0	-	-	3879_1:32096389-32096389 G>A_YNLSPQFTQLLVFRYCPRSANPAMQ
19:39219953-39219953 C>T	1.0	3879	MELANOMA	-	-	-	-	ACTN4	ENST00000440400,p.P304S|uc021uug.1,p.P654S|ENST00000252699,p.P873S|ENST00000424234,p.P483S|NM_004924,p.P873S|uc002oja.2,p.P873S|ENST00000390009,p.P654S	retained_intron, protein_coding, processed_transcript	uc021uug.1	nonsynonymous SNV	exon14	c.C1960T	p.P654S	FITAEELRRELPPDQAEYCIARMAP	FITAEELRRELPSDQAEYCIARMAP	10.0	2.0	-	-	3879_19:39219953-39219953 C>T_FITAEELRRELPSDQAEYCIARMAP
2:28634752-28634752 C>T	0.0	3879	MELANOMA	-	-	-	-	FOSL2	uc021vfg.1,p.P132S|ENST00000379619,p.P132S	protein_coding, processed_transcript	uc021vfg.1	nonsynonymous SNV	exon4	c.C394T	p.P132S	RRELTEKLQAIGPWQVAVPHIPLFP	RRELTEKLQAIGSWQVAVPHIPLFP	6.0	8.0	unscreened	-	3879_2:28634752-28634752 C>T_RRELTEKLQAIGSWQVAVPHIPLFP
4:114378522-114378522 G>A	1.0	3879	MELANOMA	-	-	-	-	CAMK2D	NM_172128,p.H468Y|uc003ibj.3,p.H468Y|ENST00000394524,p.H468Y	retained_intron, protein_coding, processed_transcript	uc003ibj.3	nonsynonymous SNV	exon17	c.C1402T	p.H468Y	HRRDGKWQNVHFHRSGSPTVPIN	HRRDGKWQNVHFYRSGSPTVPIN	9.0	7.0	unscreened	-	3879_4:114378522-114378522 G>A_HRRDGKWQNVHFYRSGSPTVPIN
X:119388977-119388977 A>G	1.0	3879	MELANOMA	-	-	-	-	ZBTB33	NM_001184742,p.I569M|ENST00000326624,p.I569M|NM_006777,p.I569M|uc022cdm.1,p.I569M|uc010nqm.1,p.I569M|uc004esn.1,p.I569M|ENST00000557385,p.I569M	protein_coding	uc022cdm.1	nonsynonymous SNV	exon1	c.A1707G	p.I569M	KSFINYQFMSSHIKSVHSQDPSGDS	KSFINYQFMSSHMKSVHSQDPSGDS	8.0	10.0	-	-	3879_X:119388977-119388977 A>G_KSFINYQFMSSHMKSVHSQDPSGDS
12:104698472-104698472 C>T	1.0	3879	MELANOMA	-	-	-	-	EID3	NM_001008394,p.R254C|uc001tkw.3,p.R254C|ENST00000527879,p.R254C	protein_coding	uc001tkw.3	nonsynonymous SNV	exon1	c.C760T	p.R254C	YFEFVIDPNSFSRTVENIFYVSFIV	YFEFVIDPNSFSCTVENIFYVSFIV	4.0	9.0	-	-	3879_12:104698472-104698472 C>T_YFEFVIDPNSFSCTVENIFYVSFIV
10:104240717-104240717 G>A	1.0	3879	MELANOMA	-	-	-	-	ACTR1A	NM_005736,p.S345F|uc001kvv.3,p.S345F|uc010qqn.2,p.S271F|ENST00000369905,p.S345F|uc010qqo.2,p.S298F|ENST00000545684,p.S271F|ENST00000446605,p.S298F	protein_coding, processed_transcript	uc010qqo.2	nonsynonymous SNV	exon10	c.C893T	p.S298F	PQERLYSTWIGGSILASLDTFKKMW	PQERLYSTWIGGFILASLDTFKKMW	7.0	2.0	-	-	3879_10:104240717-104240717 G>A_PQERLYSTWIGGFILASLDTFKKMW
15:45657018-45657018 G>A	1.0	3879	MELANOMA	-	-	-	-	GATM	uc001zvb.3,p.P211L|ENST00000558336,p.P340L|uc010uev.1,p.P393L|ENST00000396659,p.P340L|uc001zvc.3,p.P340L|NM_001482,p.P340L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uev.1	nonsynonymous SNV	exon7	c.C1178T	p.P393L	DLFKKAGWTIITPPTPIIPDDHPLW	DLFKKAGWTIITLPTPIIPDDHPLW	5.0	9.0	-	-	3879_15:45657018-45657018 G>A_DLFKKAGWTIITLPTPIIPDDHPLW
4:114378522-114378522 G>A	1.0	3879	MELANOMA	-	-	-	-	CAMK2D	ENST00000514328,p.H467Y|ENST00000511664,p.H502Y|ENST00000515496,p.H479Y|uc003ibi.3,p.H468Y|ENST00000454265,p.H493Y|ENST00000429180,p.H488Y|uc003ibo.4,p.H502Y|ENST00000418639,p.H482Y|ENST00000342666,p.H468Y|ENST00000394526,p.H479Y|NM_001221,p.H468Y	retained_intron, protein_coding, processed_transcript	uc003ibo.4	nonsynonymous SNV	exon19	c.C1504T	p.H502Y	HRRDGKWQNVHFHRSGSPTVPIKPP	HRRDGKWQNVHFYRSGSPTVPIKPP	9.0	7.0	-	-	3879_4:114378522-114378522 G>A_HRRDGKWQNVHFYRSGSPTVPIKPP
12:110206552-110206552 C>T	1.0	3879	MELANOMA	-	-	-	-	FAM222A	uc001tpd.2,p.A273V|ENST00000538780,p.A273V|ENST00000358906,p.A273V|NM_032829,p.A273V	protein_coding, processed_transcript	uc001tpd.2	nonsynonymous SNV	exon3	c.C818T	p.A273V	QGATQALTLAGAAKPAGYADSGLDY	QGATQALTLAGAVKPAGYADSGLDY	6.0	2.0	-	-	3879_12:110206552-110206552 C>T_QGATQALTLAGAVKPAGYADSGLDY
9:131890343-131890343 C>T	0.0	3879	MELANOMA	-	-	-	-	PPP2R4	NM_178001,p.S106L|ENST00000414331,p.S34L|ENST00000445241,p.S106L|ENST00000455292,p.S106L|ENST00000452489,p.S106L|ENST00000337738,p.S106L|uc004bxm.2,p.S106L|uc011mbo.2,p.S106L	protein_coding	uc011mbo.2	nonsynonymous SNV	exon4	c.C317T	p.S106L	CIPLPRAGHCAPSEAIEKLVALLNT	CIPLPRAGHCAPLEAIEKLVALLNT	7.0	9.0	unscreened	-	3879_9:131890343-131890343 C>T_CIPLPRAGHCAPLEAIEKLVALLNT
3:184021823-184021823 T>A	1.0	3879	MELANOMA	-	-	-	-	PSMD2	NM_001278708,p.L341H|NM_001278709,p.L312H|uc003fnn.1,p.L471H|NM_002808,p.L471H|uc011brk.1,p.L341H|ENST00000435761,p.L312H|uc011brj.1,p.L312H|ENST00000439383,p.L341H|ENST00000310118,p.L471H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011brk.1	nonsynonymous SNV	exon9	c.T1022A	p.L341H	CDPALALLSDYVLHNSNTMRLGSIF	CDPALALLSDYVHHNSNTMRLGSIF	9.0	10.0	-	-	3879_3:184021823-184021823 T>A_CDPALALLSDYVHHNSNTMRLGSIF
1:242013754-242013754 T>A	1.0	3879	MELANOMA	-	-	-	-	EXO1	ENST00000437497,p.F9L|ENST00000423131,p.F9L|NM_130398,p.F9L|uc021plj.1,p.F9L|NM_006027,p.F9L|uc001hzh.3,p.F9L|ENST00000450748,p.F9L|ENST00000518483,p.F9L|ENST00000348581,p.F9L|NM_003686,p.F9L|uc009xgq.3,p.F9L|uc021plk.1,p.F9L|ENST00000366548,p.F9L|ENST00000523590,p.F9L	protein_coding, processed_transcript	uc021plk.1	nonsynonymous SNV	exon2	c.T27A	p.F9L	MGIQGLLQFIKEASEPIHVRK	MGIQGLLQLIKEASEPIHVRK	8.0	1.0	-	-	3879_1:242013754-242013754 T>A_MGIQGLLQLIKEASEPIHVRK
15:102185351-102185351 G>A	1.0	3879	MELANOMA	-	-	ID=COSM1708590;OCCURENCE=1(skin)	-	TM2D3	ENST00000561373,p.P108S|uc002bxj.3,p.P147S|NM_078474,p.P173S|ENST00000333202,p.P173S|ENST00000347970,p.P147S|uc002bxi.3,p.P173S|NM_025141,p.P147S|ENST00000428002,p.P147S|uc010usg.1,p.P147S|uc002bxh.3,p.P108S|ENST00000559107,p.P173S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010usg.1	nonsynonymous SNV	exon4	c.C439T	p.P147S	RDHVHCLGNRTFPKMLYCNWTGGYK	RDHVHCLGNRTFSKMLYCNWTGGYK	9.0	2.0	-	-	3879_15:102185351-102185351 G>A_RDHVHCLGNRTFSKMLYCNWTGGYK
X:107841965-107841965 C>T	1.0	3879	MELANOMA	-	-	-	-	COL4A5	uc004eob.1,p.P213S|ENST00000328300,p.P605S|ENST00000361603,p.P605S|uc022ccg.2,p.P605S|uc004enz.2,p.P605S|NM_000495,p.P605S	retained_intron, protein_coding, processed_transcript	uc022ccg.2	nonsynonymous SNV	exon25	c.C1813T	p.P605S	PGGITFKGERGPPGNPGLPGLPGNI	PGGITFKGERGPSGNPGLPGLPGNI	8.0	10.0	-	-	3879_X:107841965-107841965 C>T_PGGITFKGERGPSGNPGLPGLPGNI
16:1004567-1004567 A>G	1.0	3879	MELANOMA	-	-	-	-	LMF1	ENST00000562380,p.F59S|NM_022773,p.F98S|uc021tae.1,p.F98S|ENST00000562226,p.F98S|ENST00000539379,p.F91S|ENST00000399843,p.F98S|ENST00000262301,p.F98S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc021tae.1	nonsynonymous SNV	exon2	c.T293C	p.F98S	PCRVFLKNFQQYFQDRTSWEVFSYM	PCRVFLKNFQQYSQDRTSWEVFSYM	7.0	6.0	-	-	3879_16:1004567-1004567 A>G_PCRVFLKNFQQYSQDRTSWEVFSYM
6:47649799-47649799 T>C	0.0	3879	MELANOMA	-	-	-	-	GPR111	uc010jzj.1,p.F502L|ENST00000467205,p.F434L|uc003oyy.3,p.F434L|NM_153839,p.F434L|ENST00000296862,p.F502L|ENST00000398742,p.F434L|ENST00000507065,p.F434L	protein_coding, nonsense_mediated_decay	uc010jzj.1	nonsynonymous SNV	exon6	c.T1504C	p.F502L	NIAATLLMADVWFIVASFLSGPITH	NIAATLLMADVWLIVASFLSGPITH	1.0	1.0	unscreened	-	3879_6:47649799-47649799 T>C_NIAATLLMADVWLIVASFLSGPITH
19:6534791-6534791 C>T	1.0	3879	MELANOMA	-	-	-	-	TNFSF9	ENST00000245817,p.S160F|NM_003811,p.S160F|uc002mfh.2,p.S160F	protein_coding	uc002mfh.2	nonsynonymous SNV	exon3	c.C479T	p.S160F	ELRRVVAGEGSGSVSLALHLQPLRS	ELRRVVAGEGSGFVSLALHLQPLRS	3.0	5.0	unscreened	-	3879_19:6534791-6534791 C>T_ELRRVVAGEGSGFVSLALHLQPLRS
19:8922507-8922507 G>A	1.0	3879	MELANOMA	-	-	-	-	ZNF558	NM_144693,p.P220L|uc010dwg.1,p.P220L|ENST00000301475,p.P220L|uc002mkn.1,p.P220L|ENST00000444186,p.P149L|uc010xkh.1,p.P149L|ENST00000601372,p.P220L	retained_intron, protein_coding, processed_transcript	uc010xkh.1	nonsynonymous SNV	exon5	c.C446T	p.P149L	YECNHCGKAFSDPSSLRLHLRIHTG	YECNHCGKAFSDLSSLRLHLRIHTG	5.0	6.0	-	-	3879_19:8922507-8922507 G>A_YECNHCGKAFSDLSSLRLHLRIHTG
7:112724314-112724314 G>A	1.0	3879	MELANOMA	-	-	-	-	GPR85	ENST00000424100,p.P155S|NM_001146265,p.P155S|ENST00000501255,p.P155S|uc003vgp.1,p.P155S|NM_001146266,p.P155S|uc010ljw.1,p.P155S|ENST00000449591,p.P155S|uc022akd.1,p.P155S|uc010ljv.2,p.P155S|NM_018970,p.P155S|NM_001146267,p.P155S|uc003vgq.2,p.P155S|ENST00000297146,p.P155S	protein_coding, processed_transcript	uc022akd.1	nonsynonymous SNV	exon1	c.C463T	p.P155S	CMVWTLSVAMAFPPVLDVGTYSFIR	CMVWTLSVAMAFSPVLDVGTYSFIR	5.0	3.0	-	-	3879_7:112724314-112724314 G>A_CMVWTLSVAMAFSPVLDVGTYSFIR
1:228538619-228538619 G>A	1.0	3879	MELANOMA	-	-	ID=COSM1218225,COSM1218224,COSM1218223;OCCURENCE=1(large_intestine)	-	OBSCN	ENST00000366709,p.E3251K|ENST00000366707,p.E3766K|uc001hsr.1,p.E761K|NM_001098623,p.E6132K|uc009xez.2,p.E6132K|uc001hsq.2,p.E7089K|ENST00000284548,p.E6132K|NM_052843,p.E6132K|ENST00000570156,p.E7089K|NM_001271223,p.E7089K|ENST00000422127,p.E6132K|uc001hsn.4,p.E6132K	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon77	c.G18394A	p.E6132K	VEGEDAQFTCTIEGAPYPQIRWYKD	VEGEDAQFTCTIKGAPYPQIRWYKD	10.0	1.0	-	-	3879_1:228538619-228538619 G>A_VEGEDAQFTCTIKGAPYPQIRWYKD
5:179195998-179195998 C>T	1.0	3879	MELANOMA	-	-	-	-	MAML1	uc003mkn.1,p.L627F|ENST00000292599,p.L627F|uc003mkm.3,p.L627F|NM_014757,p.L627F	retained_intron, protein_coding, processed_transcript	uc003mkn.1	nonsynonymous SNV	exon3	c.C1879T	p.L627F	QQQAAVMKQHQLLLDQQKQREQQQK	QQQAAVMKQHQLFLDQQKQREQQQK	7.0	4.0	-	-	3879_5:179195998-179195998 C>T_QQQAAVMKQHQLFLDQQKQREQQQK
17:58571953-58571953 C>G	1.0	3879	MELANOMA	-	-	-	-	APPBP2	ENST00000589341,p.G55A	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000589341	nonsynonymous SNV	exon2	c.G164C	p.G55A	VYYKTFASSLFSGFDGSWC	VYYKTFASSLFSAFDGSWC	8.0	7.0	unscreened	-	3879_17:58571953-58571953 C>G_VYYKTFASSLFSAFDGSWC
6:157505561-157505561 C>T	1.0	3879	MELANOMA	-	-	-	1	ARID1B	uc003qqo.3,p.P1181L|ENST00000367148,p.P1221L|NM_017519,p.P1168L|ENST00000350026,p.P1168L|ENST00000275248,p.P1163L|uc003qqn.3,p.P1221L|ENST00000414678,p.P690L|uc003qqp.3,p.P1168L|ENST00000346085,p.P1181L|NM_020732,p.P1181L	retained_intron, protein_coding, processed_transcript	uc003qqp.3	nonsynonymous SNV	exon12	c.C3503T	p.P1168L	TGDTKKQPKLQPPSPANSGSLQGPQ	TGDTKKQPKLQPLSPANSGSLQGPQ	9.0	2.0	-	-	3879_6:157505561-157505561 C>T_TGDTKKQPKLQPLSPANSGSLQGPQ
3:140997264-140997264 G>A	1.0	3879	MELANOMA	-	-	-	-	PXYLP1	NM_001282728,p.E16K|NM_001037172,p.E54K|ENST00000505013,p.E54K|ENST00000393007,p.E38K|NM_152282,p.E54K|ENST00000508812,p.E45K|ENST00000504264,p.E37K|ENST00000393010,p.E54K|ENST00000514680,p.E54K|ENST00000512457,p.E16K|ENST00000286353,p.E54K|uc011bnb.2,p.E37K|ENST00000502783,p.E16K|uc003etu.3,p.E54K|uc003etv.3,p.E54K|uc011bna.2,p.E16K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bnb.2	nonsynonymous SNV	exon2	c.G109A	p.E37K	KSRKRIMPDPVTEPPVTDPVYEALL	KSRKRIMPDPVTKPPVTDPVYEALL	6.0	10.0	-	-	3879_3:140997264-140997264 G>A_KSRKRIMPDPVTKPPVTDPVYEALL
6:41658952-41658952 G>A	1.0	3879	MELANOMA	-	-	-	1	TFEB	uc003oqy.1,p.H44Y	retained_intron, protein_coding	uc003oqy.1	nonsynonymous SNV	exon2	c.C130T	p.H44Y	AALSKGASAGSHHGVTHRVAHAAHA	AALSKGASAGSHYGVTHRVAHAAHA	5.0	1.0	-	-	3879_6:41658952-41658952 G>A_AALSKGASAGSHYGVTHRVAHAAHA
12:58001221-58001221 C>T	1.0	3879	MELANOMA	-	-	-	-	DTX3	NM_001286246,p.A192V|ENST00000548198,p.A192V|NM_178502,p.A192V|uc001sov.1,p.A185V|ENST00000551632,p.A195V|ENST00000548804,p.A192V|uc001soy.1,p.A185V|uc001sow.1,p.A192V|uc001sox.1,p.A185V|NM_001286245,p.A195V|ENST00000337737,p.A192V	protein_coding	uc001soy.1	nonsynonymous SNV	exon3	c.C554T	p.A185V	CRHSFCEGCITRALQVKKACPMCGR	CRHSFCEGCITRVLQVKKACPMCGR	6.0	4.0	-	-	3879_12:58001221-58001221 C>T_CRHSFCEGCITRVLQVKKACPMCGR
X:151935260-151935260 G>A	1.0	3879	MELANOMA	-	-	-	-	MAGEA3	uc004fgp.3,p.P303S|ENST00000370278,p.P303S|NM_005362,p.P303S|uc022chl.1,p.P303S|ENST00000393902,p.P303S	protein_coding	uc022chl.1	nonsynonymous SNV	exon1	c.C907T	p.P303S	VKISGGPHISYPPLHEWVLREGEE	VKISGGPHISYPSLHEWVLREGEE	7.0	10.0	-	-	3879_X:151935260-151935260 G>A_VKISGGPHISYPSLHEWVLREGEE
1:241798578-241798578 T>G	1.0	3879	MELANOMA	-	-	-	-	CHML	uc001hzd.3,p.E164A|NM_001821,p.E164A|ENST00000366553,p.E164A	protein_coding	uc001hzd.3	nonsynonymous SNV	exon1	c.A491C	p.E164A	EMPAKHTQKSDTEISLEVTDVEESV	EMPAKHTQKSDTAISLEVTDVEESV	10.0	8.0	-	-	3879_1:241798578-241798578 T>G_EMPAKHTQKSDTAISLEVTDVEESV
11:107943094-107943094 C>T	1.0	3879	MELANOMA	-	-	ID=COSM1704531;OCCURENCE=1(skin)	-	CUL5	uc001pjv.3,p.P304S|NM_003478,p.P304S|ENST00000393094,p.P304S|ENST00000531427,p.P304S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001pjv.3	nonsynonymous SNV	exon9	c.C910T	p.P304S	KLHLMFSLMDKVPNGIEPMLKDLEE	KLHLMFSLMDKVSNGIEPMLKDLEE	8.0	9.0	-	-	3879_11:107943094-107943094 C>T_KLHLMFSLMDKVSNGIEPMLKDLEE
4:149356367-149356367 G>A	1.0	3879	MELANOMA	-	-	-	-	NR3C2	uc003ilj.4,p.S549F|NM_000901,p.S549F|ENST00000355292,p.S549F|ENST00000358102,p.S549F|ENST00000342437,p.S549F|ENST00000512865,p.S549F|NM_001166104,p.S549F|ENST00000344721,p.S549F|uc003ilk.4,p.S549F|ENST00000511528,p.S549F	retained_intron, protein_coding, processed_transcript	uc003ilk.4	nonsynonymous SNV	exon2	c.C1646T	p.S549F	RSARDQSFQHLSSFPPVNTLVESWK	RSARDQSFQHLSFFPPVNTLVESWK	5.0	2.0	unscreened	-	3879_4:149356367-149356367 G>A_RSARDQSFQHLSFFPPVNTLVESWK
11:9867113-9867113 G>A	1.0	3879	MELANOMA	-	-	ID=COSM933702;OCCURENCE=1(endometrium)	-	SBF2	uc001mib.2,p.R1037C|ENST00000256190,p.R1037C|NM_030962,p.R1037C|uc001mif.3,p.R793C	retained_intron, protein_coding, processed_transcript	uc001mif.3	nonsynonymous SNV	exon23	c.C2377T	p.R793C	ILPKQKEKNTSFRTFSKTIVKGAKR	ILPKQKEKNTSFCTFSKTIVKGAKR	7.0	9.0	-	-	3879_11:9867113-9867113 G>A_ILPKQKEKNTSFCTFSKTIVKGAKR
10:122334784-122334784 G>A	1.0	3879	MELANOMA	-	-	-	-	PPAPDC1A	ENST00000541332,p.R196H|uc010qtd.2,p.R196H	protein_coding, processed_transcript	uc010qtd.2	nonsynonymous SNV	exon6	c.G587A	p.R196H	LPLYCAMMIALSRMCDYKHHWQVGC	LPLYCAMMIALSHMCDYKHHWQVGC	5.0	5.0	-	-	3879_10:122334784-122334784 G>A_LPLYCAMMIALSHMCDYKHHWQVGC
4:88903647-88903647 C>T	1.0	3879	MELANOMA	-	-	-	-	SPP1	ENST00000395080,p.P182S|NM_001251830,p.P195S|ENST00000237623,p.P168S|uc003hrc.3,p.P168S|NM_001040060,p.P155S|NM_001251829,p.P141S|uc003hrd.3,p.P141S|uc011cde.2,p.P195S|NM_001040058,p.P182S|uc003hrb.3,p.P155S|NM_000582,p.P168S|ENST00000508233,p.P141S|ENST00000360804,p.P155S|uc003hra.3,p.P182S	retained_intron, protein_coding, processed_transcript	uc011cde.2	nonsynonymous SNV	exon8	c.C583T	p.P195S	KSKKFRRPDIQYPDATDEDITSHME	KSKKFRRPDIQYSDATDEDITSHME	10.0	3.0	-	-	3879_4:88903647-88903647 C>T_KSKKFRRPDIQYSDATDEDITSHME
19:9204779-9204779 C>T	0.0	3879	MELANOMA	-	-	-	-	OR1M1	uc010xkj.2,p.P287S|ENST00000429566,p.P287S|NM_001004456,p.P287S	protein_coding	uc010xkj.2	nonsynonymous SNV	exon1	c.C859T	p.P287S	AVMYTAVTPMLNPFIYSLRNRDLKG	AVMYTAVTPMLNSFIYSLRNRDLKG	1.0	6.0	unscreened	-	3879_19:9204779-9204779 C>T_AVMYTAVTPMLNSFIYSLRNRDLKG
1:36354072-36354072 C>T	1.0	3879	MELANOMA	-	-	-	-	AGO1	ENST00000373204,p.P24S|uc001bzl.3,p.P24S|NM_012199,p.P24S	protein_coding	uc001bzl.3	nonsynonymous SNV	exon2	c.C70T	p.P24S	AYLPPLQQVFQAPRRPGIGTVGKPI	AYLPPLQQVFQASRRPGIGTVGKPI	8.0	2.0	unscreened	-	3879_1:36354072-36354072 C>T_AYLPPLQQVFQASRRPGIGTVGKPI
13:76378541-76378541 C>T	1.0	3879	MELANOMA	-	-	-	-	LMO7	uc010thw.2,p.R221C|uc001vjt.1,p.R260C|ENST00000357063,p.R312C|uc001vjw.1,p.R27C|ENST00000489941,p.R27C|ENST00000377534,p.R312C|ENST00000341547,p.R312C|uc021rkq.1,p.R260C|ENST00000526371,p.R27C|ENST00000525373,p.R27C|ENST00000377499,p.R260C|ENST00000526202,p.R221C|ENST00000321797,p.R27C|ENST00000526528,p.R27C|ENST00000497947,p.R27C|ENST00000465261,p.R27C|uc001vjv.3,p.R27C|uc010thv.2,p.R312C|NM_015842,p.R27C|NM_005358,p.R312C	retained_intron, protein_coding, processed_transcript	uc021rkq.1	nonsynonymous SNV	exon8	c.C778T	p.R260C	SAVEPKTALPFNRFLPNKSRQPSYV	SAVEPKTALPFNCFLPNKSRQPSYV	6.0	3.0	-	-	3879_13:76378541-76378541 C>T_SAVEPKTALPFNCFLPNKSRQPSYV
1:31898664-31898664 C>G	1.0	3879	MELANOMA	-	-	-	-	SERINC2	uc009vtw.1,p.P145R	protein_coding, processed_transcript	uc009vtw.1	nonsynonymous SNV	exon4	c.C434G	p.P145R	VLLRRRGLLPLHPHPAGAAHRLCAL	VLLRRRGLLPLHRHPAGAAHRLCAL	6.0	6.0	-	-	3879_1:31898664-31898664 C>G_VLLRRRGLLPLHRHPAGAAHRLCAL
10:13340203-13340203 G>A	1.0	3879	MELANOMA	-	-	ID=COSM1187894;OCCURENCE=1(lung)	-	PHYH	NM_006214,p.H40Y|ENST00000396920,p.H21Y|ENST00000263038,p.H40Y|uc001imf.3,p.H40Y|ENST00000479604,p.H40Y	retained_intron, protein_coding	uc001imf.3	nonsynonymous SNV	exon2	c.C118T	p.H40Y	HPTSGTISSASFHPQQFQYTLDNNV	HPTSGTISSASFYPQQFQYTLDNNV	4.0	1.0	unscreened	-	3879_10:13340203-13340203 G>A_HPTSGTISSASFYPQQFQYTLDNNV
1:228461708-228461708 G>A	1.0	3879	MELANOMA	-	-	ID=COSM33595;OCCURENCE=1(large_intestine)	-	OBSCN	uc001hsn.4,p.R1792H|NM_001098623,p.R1792H|NM_052843,p.R1792H|uc009xez.2,p.R1792H|ENST00000570156,p.R2167H|NM_001271223,p.R2167H|ENST00000284548,p.R1792H|ENST00000422127,p.R1792H|ENST00000359599,p.R639H|uc001hsq.2,p.R2167H	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon18	c.G5375A	p.R1792H	GAQVLDSAIYSCRVGAEGQDFPVQV	GAQVLDSAIYSCHVGAEGQDFPVQV	10.0	1.0	-	-	3879_1:228461708-228461708 G>A_GAQVLDSAIYSCHVGAEGQDFPVQV
14:102551143-102551143 C>T	1.0	3879	MELANOMA	-	-	-	1	HSP90AA1	NM_001017963,p.D408N|uc001ykv.4,p.D408N|ENST00000334701,p.D408N|ENST00000441629,p.D107N|NM_005348,p.D286N|uc001ykx.1,p.D275N|ENST00000216281,p.D286N|uc001yku.4,p.D286N|uc001ykw.1,p.D107N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ykx.1	nonsynonymous SNV	exon4	c.G823A	p.D275N	KKKKKKIKEKYIDQEELNKTKPIWT	KKKKKKIKEKYINQEELNKTKPIWT	10.0	10.0	-	-	3879_14:102551143-102551143 C>T_KKKKKKIKEKYINQEELNKTKPIWT
5:64558764-64558764 G>A	1.0	3879	MELANOMA	-	-	-	-	ADAMTS6	ENST00000464680,p.P549L|uc003jtp.3,p.P549L|uc003jto.4,p.P105L|ENST00000381055,p.P549L|uc003jtr.1,p.P170L|NM_197941,p.P549L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jtr.1	nonsynonymous SNV	exon12	c.C509T	p.P170L	IEKGWCYQGDCVPFGTWPQSIDGGW	IEKGWCYQGDCVLFGTWPQSIDGGW	5.0	6.0	-	-	3879_5:64558764-64558764 G>A_IEKGWCYQGDCVLFGTWPQSIDGGW
4:100472096-100472096 G>A	1.0	3879	MELANOMA	-	-	-	-	TRMT10A	NM_001134666,p.P233S|NM_152292,p.P233S|NM_001134665,p.P233S|ENST00000394877,p.P233S|ENST00000273962,p.P233S|uc003huz.4,p.P233S|uc003hva.4,p.P233S|ENST00000394876,p.P233S|uc003huy.3,p.P233S	retained_intron, protein_coding	uc003hva.4	nonsynonymous SNV	exon7	c.C697T	p.P233S	QASDYGINHAQLPLGNFVKMNSRKV	QASDYGINHAQLSLGNFVKMNSRKV	6.0	7.0	-	-	3879_4:100472096-100472096 G>A_QASDYGINHAQLSLGNFVKMNSRKV
1:171482242-171482242 C>T	1.0	3879	MELANOMA	-	-	-	-	PRRC2C	uc001ghr.1,p.P74L|uc001ghq.1,p.P74L|ENST00000426496,p.P72L|NM_015172,p.P72L|ENST00000338920,p.P72L|ENST00000392078,p.P74L|ENST00000367742,p.P74L|uc010pmg.2,p.P72L	retained_intron, protein_coding, processed_transcript	uc010pmg.2	nonsynonymous SNV	exon3	c.C215T	p.P72L	LPSLKAENKGNDPNVNIVPKDGTGW	LPSLKAENKGNDLNVNIVPKDGTGW	10.0	9.0	-	-	3879_1:171482242-171482242 C>T_LPSLKAENKGNDLNVNIVPKDGTGW
7:78636436-78636436 G>A	1.0	3879	MELANOMA	-	-	ID=COSM1214267;OCCURENCE=1(large_intestine)	-	MAGI2	NM_012301,p.R130C|ENST00000419488,p.R130C|uc003ugx.3,p.R130C|NM_001301128,p.R130C|uc003ugy.3,p.R130C|ENST00000354212,p.R130C|ENST00000522391,p.R130C	retained_intron, protein_coding, processed_transcript	uc003ugy.3	nonsynonymous SNV	exon2	c.C388T	p.R130C	KGSVDHELQQIIRDNLYLRTVPCTT	KGSVDHELQQIICDNLYLRTVPCTT	5.0	3.0	-	-	3879_7:78636436-78636436 G>A_KGSVDHELQQIICDNLYLRTVPCTT
21:40193564-40193564 C>T	1.0	3879	MELANOMA	-	-	-	-	ETS2	NM_005239,p.S377F|ENST00000360938,p.S377F|ENST00000360214,p.S377F|NM_001256295,p.S517F|uc002yxf.3,p.S517F|uc002yxg.4,p.S377F	protein_coding	uc002yxg.4	nonsynonymous SNV	exon9	c.C1130T	p.S377F	LWQFLLELLSDKSCQSFISWTGDGW	LWQFLLELLSDKFCQSFISWTGDGW	7.0	6.0	-	-	3879_21:40193564-40193564 C>T_LWQFLLELLSDKFCQSFISWTGDGW
12:27143553-27143553 G>A	1.0	3879	MELANOMA	-	-	-	-	TM7SF3	ENST00000543882,p.T75I|ENST00000343028,p.T233I|NM_016551,p.T233I|ENST00000535819,p.T24I|ENST00000543655,p.T24I|uc010sjl.2,p.T233I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sjl.2	nonsynonymous SNV	exon6	c.C698T	p.T233I	VPQVKASALKVVTLTANDKTSVSFS	VPQVKASALKVVILTANDKTSVSFS	10.0	3.0	-	-	3879_12:27143553-27143553 G>A_VPQVKASALKVVILTANDKTSVSFS
7:112112287-112112287 C>T	1.0	3879	MELANOMA	-	-	-	-	IFRD1	uc003vgj.3,p.P352L|uc003vgh.3,p.P352L|ENST00000462155,p.P15L|ENST00000403825,p.P352L|NM_001197080,p.P302L|uc003vgk.3,p.P69L|ENST00000005558,p.P352L|NM_001550,p.P352L|uc011kmn.2,p.P302L|NM_001197079,p.P302L|NM_001007245,p.P352L|uc011kmp.2,p.P302L|ENST00000535603,p.P302L	retained_intron, protein_coding, processed_transcript	uc011kmp.2	nonsynonymous SNV	exon10	c.C905T	p.P302L	RDVLRAVEERDFPTETIKFGPERMY	RDVLRAVEERDFLTETIKFGPERMY	10.0	6.0	-	-	3879_7:112112287-112112287 C>T_RDVLRAVEERDFLTETIKFGPERMY
10:122334784-122334784 G>A	1.0	3879	MELANOMA	-	-	-	-	PPAPDC1A	ENST00000369073,p.R186H|uc009xzl.1,p.R133H|uc001ley.1,p.R75H|ENST00000439221,p.R133H|ENST00000427079,p.R196H|NM_001030059,p.R196H|uc001lev.1,p.R196H|ENST00000398250,p.R196H	protein_coding, processed_transcript	uc009xzl.1	nonsynonymous SNV	exon4	c.G398A	p.R133H	LPLYCAMMIALSRMCDYKHHWQDSF	LPLYCAMMIALSHMCDYKHHWQDSF	5.0	5.0	-	-	3879_10:122334784-122334784 G>A_LPLYCAMMIALSHMCDYKHHWQDSF
22:20073722-20073722 C>T	1.0	3879	MELANOMA	-	-	-	2	DGCR8	NM_022720,p.S79F|uc002zri.3,p.S79F|NM_001190326,p.S79F|uc010grz.3,p.S79F|ENST00000457069,p.S79F|ENST00000351989,p.S79F|ENST00000407755,p.S79F|ENST00000383024,p.S79F	retained_intron, protein_coding	uc010grz.3	nonsynonymous SNV	exon2	c.C236T	p.S79F	FNFYGASLLSKGSFSKGRLLIDPNC	FNFYGASLLSKGFFSKGRLLIDPNC	8.0	5.0	-	-	3879_22:20073722-20073722 C>T_FNFYGASLLSKGFFSKGRLLIDPNC
12:112326792-112326792 C>T	1.0	3879	MELANOMA	-	-	-	-	MAPKAPK5	NM_003668,p.L402F|ENST00000550735,p.L402F|uc001tsz.4,p.L402F	retained_intron, protein_coding, processed_transcript	uc001tsz.4	nonsynonymous SNV	exon12	c.C1204T	p.L402F	LEKLRDVIAQCILPQAGENEDEKLN	LEKLRDVIAQCIFPQAGENEDEKLN	9.0	9.0	-	-	3879_12:112326792-112326792 C>T_LEKLRDVIAQCIFPQAGENEDEKLN
4:126370581-126370581 A>T	0.0	3879	MELANOMA	-	-	-	1	FAT4	NM_001291303,p.N2806Y|uc011cgp.2,p.N1102Y|uc003ifi.1,p.N282Y|ENST00000335110,p.N1102Y|NM_001291285,p.N2806Y|uc003ifj.4,p.N2804Y|NM_024582,p.N2804Y|ENST00000394329,p.N2804Y	retained_intron, protein_coding	uc011cgp.2	nonsynonymous SNV	exon9	c.A3304T	p.N1102Y	TRVTTSDEDIGINAISRYSIMDASL	TRVTTSDEDIGIYAISRYSIMDASL	2.0	4.0	unscreened	-	3879_4:126370581-126370581 A>T_TRVTTSDEDIGIYAISRYSIMDASL
1:112045909-112045909 C>T	0.0	3879	MELANOMA	-	-	-	-	ADORA3	uc001ebh.4,p.G23E|ENST00000241356,p.G23E|NM_020683,p.G23E|uc001ebf.3,p.G23E|NM_000677,p.G23E|ENST00000369716,p.G23E	protein_coding, processed_transcript	uc001ebh.4	nonsynonymous SNV	exon1	c.G68A	p.G23E	ANVTYITMEIFIGLCAIVGNVLVIC	ANVTYITMEIFIELCAIVGNVLVIC	2.0	7.0	unscreened	-	3879_1:112045909-112045909 C>T_ANVTYITMEIFIELCAIVGNVLVIC
15:48757890-48757890 T>C	1.0	3879	MELANOMA	-	-	-	-	FBN1	ENST00000316623,p.D1606G|NM_000138,p.D1606G|uc001zwx.2,p.D1606G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zwx.2	nonsynonymous SNV	exon40	c.A4817G	p.D1606G	GFRPNPITVILEDIDECQELPGLCQ	GFRPNPITVILEGIDECQELPGLCQ	6.0	9.0	-	-	3879_15:48757890-48757890 T>C_GFRPNPITVILEGIDECQELPGLCQ
2:69409764-69409764 C>T	1.0	3879	MELANOMA	-	-	-	-	ANTXR1	ENST00000303714,p.S442F|uc002sfg.3,p.S442F|NM_032208,p.S442F	retained_intron, protein_coding	uc002sfg.3	nonsynonymous SNV	exon16	c.C1325T	p.S442F	PRNLNNNMRRPSSPRKWYSPIKGKL	PRNLNNNMRRPSFPRKWYSPIKGKL	8.0	7.0	-	-	3879_2:69409764-69409764 C>T_PRNLNNNMRRPSFPRKWYSPIKGKL
1:169394098-169394098 A>T	1.0	3879	MELANOMA	-	-	-	-	CCDC181	uc009wvq.1,p.L23Q|uc001gfz.1,p.L23Q|NM_021179,p.L23Q|NM_001300969,p.L23Q|ENST00000456107,p.L23Q|uc001gga.1,p.L23Q|ENST00000367806,p.L23Q|ENST00000367805,p.L23Q|ENST00000545005,p.L23Q|uc001ggc.1,p.L23Q|NM_001300968,p.L23Q|uc001ggb.3,p.L23Q	protein_coding, processed_transcript	uc009wvq.1	nonsynonymous SNV	exon3	c.T68A	p.L23Q	KSEEYEDDFEKDLEWLINENEKSDA	KSEEYEDDFEKDQEWLINENEKSDA	6.0	1.0	-	-	3879_1:169394098-169394098 A>T_KSEEYEDDFEKDQEWLINENEKSDA
5:82406865-82406865 C>T	1.0	3879	MELANOMA	-	-	-	-	XRCC4	uc003kib.3,p.S53F|NM_022550,p.S53F|ENST00000282268,p.S53F|ENST00000511817,p.S53F|NM_003401,p.S53F|uc003kia.1,p.S53F|NM_022406,p.S53F|ENST00000396027,p.S53F|uc003kic.3,p.S53F|uc003kie.3,p.S53F|uc003kid.3,p.S53F|ENST00000338635,p.S53F	protein_coding, processed_transcript	uc003kie.3	nonsynonymous SNV	exon3	c.C158T	p.S53F	SAWTGTVSESEISQEADDMAMEKGK	SAWTGTVSESEIFQEADDMAMEKGK	6.0	6.0	-	-	3879_5:82406865-82406865 C>T_SAWTGTVSESEIFQEADDMAMEKGK
1:248512925-248512925 T>A	0.0	3879	MELANOMA	-	-	-	-	OR14C36	ENST00000317861,p.F283L|NM_001001918,p.F283L|uc010pzl.2,p.F283L	protein_coding	uc010pzl.2	nonsynonymous SNV	exon1	c.T849A	p.F283L	ILSGFYSIMPPLFNPIIYSLRNKQI	ILSGFYSIMPPLLNPIIYSLRNKQI	1.0	1.0	unscreened	-	3879_1:248512925-248512925 T>A_ILSGFYSIMPPLLNPIIYSLRNKQI
13:20039652-20039652 G>A	0.0	3879	MELANOMA	-	-	ID=COSM1706497,COSM1706498;OCCURENCE=2(skin)	-	TPTE2	uc001umd.3,p.H189Y|ENST00000382978,p.H149Y|ENST00000457266,p.H78Y|uc001ume.3,p.H112Y|ENST00000400103,p.H78Y|NM_130785,p.H112Y|ENST00000390680,p.H112Y|ENST00000255310,p.H112Y|ENST00000382975,p.H149Y|NM_199254,p.H189Y|uc009zzl.3,p.H78Y|NM_001141968,p.H78Y|ENST00000462409,p.H58Y|ENST00000400230,p.H189Y|ENST00000382977,p.H189Y	protein_coding, nonsense_mediated_decay	uc009zzl.3	nonsynonymous SNV	exon7	c.C232T	p.H78Y	RLLRLIILIRIFHLLHQKRQLEKLM	RLLRLIILIRIFYLLHQKRQLEKLM	1.0	2.0	unscreened	-	3879_13:20039652-20039652 G>A_RLLRLIILIRIFYLLHQKRQLEKLM
4:162376199-162376199 C>T	1.0	3879	MELANOMA	-	-	ID=COSM1695178;OCCURENCE=1(skin)	-	FSTL5	ENST00000306100,p.D600N|uc010iqv.4,p.D590N|NM_001128427,p.D599N|NM_001128428,p.D590N|uc003iqi.4,p.D599N|NM_020116,p.D600N|ENST00000379164,p.D599N|ENST00000427802,p.D590N|uc003iqh.4,p.D600N|ENST00000536695,p.D599N	protein_coding, processed_transcript	uc010iqv.4	nonsynonymous SNV	exon14	c.G1768A	p.D590N	TQPVGKQFDRVDDFFIPTTTLIITH	TQPVGKQFDRVDNFFIPTTTLIITH	7.0	8.0	-	-	3879_4:162376199-162376199 C>T_TQPVGKQFDRVDNFFIPTTTLIITH
14:19559058-19559058 C>T	0.0	3879	MELANOMA	-	-	-	-	POTEG	ENST00000409832,p.P235L|ENST00000547889,p.P235L|uc001vuz.1,p.P235L|ENST00000552966,p.P235L|NM_001005356,p.P235L	protein_coding, nonsense_mediated_decay	uc001vuz.1	nonsynonymous SNV	exon3	c.C704T	p.P235L	LMLLEHGTDPNIPDEYGNTALHYAI	LMLLEHGTDPNILDEYGNTALHYAI	1.0	1.0	unscreened	-	3879_14:19559058-19559058 C>T_LMLLEHGTDPNILDEYGNTALHYAI
1:47533184-47533184 G>A	0.0	3879	MELANOMA	-	-	-	-	CYP4Z1	NM_178134,p.E8K|uc001cqu.1,p.E8K|ENST00000334194,p.E8K	protein_coding, processed_transcript	uc001cqu.1	nonsynonymous SNV	exon1	c.G22A	p.E8K	MEPSWLQELMAHPFLLLILL	MEPSWLQKLMAHPFLLLILL	1.0	3.0	unscreened	-	3879_1:47533184-47533184 G>A_MEPSWLQKLMAHPFLLLILL
11:107959360-107959360 G>A	1.0	3879	MELANOMA	-	-	-	-	CUL5	NM_003478,p.E429K|ENST00000531427,p.E429K|uc001pjv.3,p.E429K|ENST00000393094,p.E429K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001pjv.3	nonsynonymous SNV	exon12	c.G1285A	p.E429K	RKTPLSKKLTSEEIEAKLKEVLLVL	RKTPLSKKLTSEKIEAKLKEVLLVL	8.0	9.0	-	-	3879_11:107959360-107959360 G>A_RKTPLSKKLTSEKIEAKLKEVLLVL
4:25769182-25769182 T>A	1.0	3879	MELANOMA	-	-	-	-	SEL1L3	ENST00000502949,p.N784I|uc003grv.3,p.N344I|NM_001297592,p.N902I|uc003gru.4,p.N937I|NM_015187,p.N937I|ENST00000399878,p.N937I|ENST00000507618,p.N28I|NM_001297594,p.N784I|ENST00000264868,p.N902I	retained_intron, protein_coding, processed_transcript	uc003grv.3	nonsynonymous SNV	exon10	c.A1031T	p.N344I	RYLGVNCVWRYYNFSVFQIDAPSFA	RYLGVNCVWRYYIFSVFQIDAPSFA	4.0	1.0	unscreened	-	3879_4:25769182-25769182 T>A_RYLGVNCVWRYYIFSVFQIDAPSFA
14:105411707-105411707 G>A	1.0	3879	MELANOMA	-	-	-	-	AHNAK2	NM_138420,p.P3361S|ENST00000333244,p.P3361S|uc001ypx.2,p.P3261S|uc010axc.1,p.P3361S	retained_intron, protein_coding	uc010axc.1	nonsynonymous SNV	exon7	c.C10081T	p.P3361S	GDLKTTDLSIQLPSVDLEVQAGQVD	GDLKTTDLSIQLSSVDLEVQAGQVD	4.0	5.0	-	-	3879_14:105411707-105411707 G>A_GDLKTTDLSIQLSSVDLEVQAGQVD
7:100460306-100460306 C>T	1.0	3879	MELANOMA	-	-	-	-	SLC12A9	NM_020246,p.S572F|uc031syn.1,p.S572F|uc011kki.2,p.S103F|NM_001267814,p.S483F|ENST00000415287,p.S483F|NM_001267812,p.S572F|ENST00000428758,p.S572F|ENST00000275729,p.S483F|ENST00000540482,p.S572F|uc003uws.3,p.S103F|uc003uwt.3,p.S308F|uc003uwv.3,p.S103F|uc003uwp.4,p.S572F|uc003uwr.3,p.S308F|uc003uwq.4,p.S483F|ENST00000354161,p.S572F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031syn.1	nonsynonymous SNV	exon13	c.C1715T	p.S572F	YVLGHVTLGDLDSLPSDPVQPQYGA	YVLGHVTLGDLDFLPSDPVQPQYGA	7.0	5.0	-	-	3879_7:100460306-100460306 C>T_YVLGHVTLGDLDFLPSDPVQPQYGA
22:39909639-39909639 C>T	1.0	3879	MELANOMA	-	-	-	-	MIEF1	ENST00000404569,p.R235C|uc003axy.3,p.R57C|uc003axw.3,p.R235C|ENST00000402881,p.R235C|ENST00000325301,p.R235C|uc003axx.3,p.R235C|uc010gxz.1,p.R57C|NM_019008,p.R235C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010gxz.1	nonsynonymous SNV	exon7	c.C169T	p.R57C	TIMNVPGFFLVRRENPEYFPRGSSY	TIMNVPGFFLVRCENPEYFPRGSSY	9.0	7.0	-	-	3879_22:39909639-39909639 C>T_TIMNVPGFFLVRCENPEYFPRGSSY
13:67802147-67802147 A>T	0.0	3879	MELANOMA	-	-	-	-	PCDH9	uc001vil.3,p.F142L|uc001vik.3,p.F142L|NM_203487,p.F142L|uc001vin.3,p.F142L|ENST00000328454,p.F142L|NM_020403,p.F142L|ENST00000544246,p.F142L|uc010thl.2,p.F142L|ENST00000377861,p.F142L|ENST00000456367,p.F142L|ENST00000377865,p.F142L	protein_coding	uc010thl.2	nonsynonymous SNV	exon2	c.T426A	p.F142L	IIVKDTNDNAPMFPSPVINISIPEN	IIVKDTNDNAPMLPSPVINISIPEN	6.0	8.0	unscreened	-	3879_13:67802147-67802147 A>T_IIVKDTNDNAPMLPSPVINISIPEN
11:55135916-55135916 T>C	0.0	3879	MELANOMA	-	-	-	-	OR4A15	NM_001005275,p.V186A|ENST00000314706,p.V186A|uc010rif.2,p.V186A	protein_coding	uc010rif.2	nonsynonymous SNV	exon1	c.T557C	p.V186A	LAAWIGGFLHSLVQFLFIYQLPFCG	LAAWIGGFLHSLAQFLFIYQLPFCG	1.0	10.0	unscreened	-	3879_11:55135916-55135916 T>C_LAAWIGGFLHSLAQFLFIYQLPFCG
5:82868241-82868241 G>A	1.0	3879	MELANOMA	-	-	-	-	VCAN	uc003kik.3,p.E507K|uc010jau.2,p.E1494K|ENST00000502527,p.E507K|ENST00000343200,p.E2261K|NM_004385,p.E3248K|ENST00000265077,p.E3248K|ENST00000342785,p.E1494K|uc003kii.3,p.E3248K|uc003kij.3,p.E2261K|uc003kil.3,p.E1912K|NM_001164098,p.E1494K|NM_001126336,p.E507K|ENST00000512590,p.E1446K|NM_001164097,p.E2261K	retained_intron, protein_coding, processed_transcript	uc010jau.2	nonsynonymous SNV	exon12	c.G4480A	p.E1494K	DFRWTDGSTLQYENWRPNQPDSFFS	DFRWTDGSTLQYKNWRPNQPDSFFS	6.0	4.0	-	-	3879_5:82868241-82868241 G>A_DFRWTDGSTLQYKNWRPNQPDSFFS
22:16449110-16449110 G>A	0.0	3879	MELANOMA	-	-	ID=COSM3551858;OCCURENCE=1(skin)	-	OR11H1	NM_001005239,p.S232F|uc011agd.2,p.S232F|ENST00000252835,p.S232F	protein_coding	uc011agd.2	nonsynonymous SNV	exon1	c.C695T	p.S232F	LVIFGNFLFIIGSYTLVLKAMLGMP	LVIFGNFLFIIGFYTLVLKAMLGMP	1.0	4.0	unscreened	-	3879_22:16449110-16449110 G>A_LVIFGNFLFIIGFYTLVLKAMLGMP
5:157053706-157053706 G>A	0.0	3879	MELANOMA	-	-	-	-	SOX30	ENST00000311371,p.P471S|uc003lxc.1,p.P471S|NM_007017,p.P471S	protein_coding	uc003lxc.1	nonsynonymous SNV	exon4	c.C1411T	p.P471S	THPVVHALTVGLPLAMEIFRVQCQN	THPVVHALTVGLSLAMEIFRVQCQN	1.0	2.0	unscreened	-	3879_5:157053706-157053706 G>A_THPVVHALTVGLSLAMEIFRVQCQN
11:4824842-4824842 G>A	0.0	3879	MELANOMA	-	-	-	-	OR52R1	uc021qcs.1,p.P257S|ENST00000380382,p.P336S|NM_001005177,p.P257S|ENST00000356069,p.P257S	protein_coding	uc021qcs.1	nonsynonymous SNV	exon1	c.C769T	p.P257S	SSHICVILALYIPALFSFLTYRFGH	SSHICVILALYISALFSFLTYRFGH	1.0	10.0	unscreened	-	3879_11:4824842-4824842 G>A_SSHICVILALYISALFSFLTYRFGH
4:2945938-2945938 G>A	1.0	3879	MELANOMA	-	-	-	-	NOP14	uc010icp.2,p.L331F|uc003ggl.3,p.L585F|ENST00000416614,p.L585F|uc003ggj.1,p.L585F|NM_003703,p.L585F|ENST00000314262,p.L585F|ENST00000398071,p.L585F|ENST00000502735,p.L585F|NM_001291979,p.L585F|NM_001291978,p.L585F	protein_coding, processed_transcript	uc010icp.2	nonsynonymous SNV	exon9	c.C991T	p.L331F	LSQLLTKCPILSLQDVVKGLFVCCL	LSQLLTKCPILSFQDVVKGLFVCCL	8.0	4.0	-	-	3879_4:2945938-2945938 G>A_LSQLLTKCPILSFQDVVKGLFVCCL
X:73524231-73524231 T>A	0.0	3879	MELANOMA	-	-	-	-	ZCCHC13	uc004ebs.4,p.S44T|NM_203303,p.S44T|ENST00000339534,p.S44T	protein_coding	uc004ebs.4	nonsynonymous SNV	exon1	c.T130A	p.S44T	HGRGSQCGSTTLSYTCYCCGESGRN	HGRGSQCGSTTLTYTCYCCGESGRN	1.0	10.0	unscreened	-	3879_X:73524231-73524231 T>A_HGRGSQCGSTTLTYTCYCCGESGRN
6:41658952-41658952 G>A	1.0	3879	MELANOMA	-	-	-	1	TFEB	uc003oqx.2,p.H9Y	retained_intron, protein_coding	uc003oqx.2	nonsynonymous SNV	exon3	c.C25T	p.H9Y	MGASAGSHHGVTHRVAHAAHA	MGASAGSHYGVTHRVAHAAHA	5.0	1.0	-	-	3879_6:41658952-41658952 G>A_MGASAGSHYGVTHRVAHAAHA
2:113498584-113498584 C>T	1.0	3879	MELANOMA	-	-	-	-	CKAP2L	NM_152515,p.G608E|ENST00000302450,p.G608E|uc002tie.2,p.G608E|ENST00000541405,p.G443E|uc002tif.2,p.G197E|uc010yxp.1,p.G443E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yxp.1	nonsynonymous SNV	exon8	c.G1328A	p.G443E	LNILQDSNRTTEGITSDSLVAETSI	LNILQDSNRTTEEITSDSLVAETSI	5.0	6.0	-	-	3879_2:113498584-113498584 C>T_LNILQDSNRTTEEITSDSLVAETSI
17:10448761-10448761 T>G	0.0	3879	MELANOMA	-	-	-	-	MYH2	uc002gmp.4,p.K136T|ENST00000245503,p.K136T|ENST00000420805,p.K136T|uc010coj.3,p.K136T|uc010coi.3,p.K136T|ENST00000578017,p.K57T|NM_017534,p.K136T|NM_001100112,p.K136T|ENST00000532183,p.K136T|ENST00000397183,p.K136T	protein_coding	uc010coj.3	nonsynonymous SNV	exon5	c.A407C	p.K136T	VTVNPYKWLPVYKPEVVTAYRGKKR	VTVNPYKWLPVYTPEVVTAYRGKKR	1.0	10.0	unscreened	-	3879_17:10448761-10448761 T>G_VTVNPYKWLPVYTPEVVTAYRGKKR
11:123471230-123471230 C>T	0.0	3879	MELANOMA	-	-	-	-	GRAMD1B	uc001pyx.2,p.L199F|uc009zbe.1,p.L195F|NM_001286563,p.L206F|ENST00000529750,p.L199F|uc010rzw.2,p.L159F|NM_001286564,p.L159F|ENST00000322282,p.L199F|uc010rzx.1,p.L159F|ENST00000529432,p.L159F|ENST00000534764,p.L195F|uc001pyw.2,p.L206F|NM_020716,p.L199F|ENST00000456860,p.L206F	retained_intron, protein_coding	uc010rzx.1	nonsynonymous SNV	exon7	c.C475T	p.L159F	GARDRTYMMMFRLWQNALLEKPLCP	GARDRTYMMMFRFWQNALLEKPLCP	1.0	10.0	unscreened	-	3879_11:123471230-123471230 C>T_GARDRTYMMMFRFWQNALLEKPLCP
2:242814819-242814819 C>T	0.0	3879	MELANOMA	-	-	-	-	RTP5	NM_173821,p.P371L|uc010fzu.1,p.P371L|ENST00000343216,p.P371L	protein_coding, nonsense_mediated_decay	uc010fzu.1	nonsynonymous SNV	exon2	c.C1112T	p.P371L	GPVATKEASITFPFIFTDVKDAVAE	GPVATKEASITFLFIFTDVKDAVAE	1.0	6.0	unscreened	-	3879_2:242814819-242814819 C>T_GPVATKEASITFLFIFTDVKDAVAE
17:62589659-62589659 C>T	1.0	3879	MELANOMA	-	-	-	-	SMURF2	NM_022739,p.S78N|ENST00000262435,p.S78N|uc002jep.1,p.S78N|ENST00000585301,p.S65N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jep.1	nonsynonymous SNV	exon4	c.G233A	p.S78N	DLYIGKSDSVTISVWNHKKIHKKQG	DLYIGKSDSVTINVWNHKKIHKKQG	8.0	8.0	-	-	3879_17:62589659-62589659 C>T_DLYIGKSDSVTINVWNHKKIHKKQG
2:231066-231066 C>T	1.0	3879	MELANOMA	-	-	-	-	SH3YL1	ENST00000415006,p.R124Q|ENST00000403658,p.R124Q|uc002qvy.3,p.R220Q|NM_001282687,p.R124Q|NM_001282682,p.R124Q|ENST00000479739,p.R124Q|uc002qvv.3,p.R124Q|uc002qvx.3,p.R220Q|uc010ewe.3,p.R124Q|NM_001159597,p.R220Q|ENST00000431160,p.R176Q|ENST00000405430,p.R220Q|ENST00000403712,p.R220Q|ENST00000403657,p.R124Q|ENST00000451005,p.R152Q|NM_015677,p.R220Q|ENST00000356150,p.R220Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ewe.3	nonsynonymous SNV	exon9	c.G371A	p.R124Q	DSFTEKYENEGQRINARKAAREQRK	DSFTEKYENEGQQINARKAAREQRK	9.0	2.0	-	-	3879_2:231066-231066 C>T_DSFTEKYENEGQQINARKAAREQRK
1:248005003-248005003 G>A	0.0	3879	MELANOMA	-	-	-	-	OR11L1	NM_001001959,p.L66F|ENST00000355784,p.L66F|uc001idn.1,p.L66F	protein_coding	uc001idn.1	nonsynonymous SNV	exon1	c.C196T	p.L66F	RLHSPMYMFLQHLSFLEVWYTSTTV	RLHSPMYMFLQHFSFLEVWYTSTTV	1.0	1.0	unscreened	-	3879_1:248005003-248005003 G>A_RLHSPMYMFLQHFSFLEVWYTSTTV
4:41694351-41694351 G>A	1.0	3879	MELANOMA	-	-	-	-	LIMCH1	ENST00000513024,p.R886K|NM_001112717,p.R1033K|ENST00000512820,p.R1045K|uc003gvy.4,p.R861K|uc003gvz.4,p.R1443K|ENST00000508501,p.R1032K|ENST00000514096,p.R873K|ENST00000396595,p.R878K|uc003gwc.4,p.R878K|ENST00000381753,p.R866K|NM_014988,p.R1059K|NM_001289122,p.R1045K|NM_001289124,p.R886K|uc003gvv.4,p.R1033K|NM_001112719,p.R878K|NM_001112718,p.R1032K|ENST00000509277,p.R892K|uc003gwa.4,p.R873K|NM_001112720,p.R866K|uc003gvw.4,p.R1032K|uc011byv.2,p.R809K|uc003gwd.4,p.R866K|ENST00000503057,p.R1443K|uc011byw.2,p.R332K|uc011byu.2,p.R892K|uc003gvx.4,p.R1045K|ENST00000512632,p.R956K|ENST00000512946,p.R1033K|ENST00000313860,p.R1059K|uc003gvu.4,p.R1059K|uc003gwe.4,p.R956K|ENST00000511496,p.R873K	protein_coding, processed_transcript	uc011byw.2	nonsynonymous SNV	exon11	c.G995A	p.R332K	GQLGDAVSGTDVRIRNGLLNCNDCY	GQLGDAVSGTDVKIRNGLLNCNDCY	7.0	5.0	unscreened	-	3879_4:41694351-41694351 G>A_GQLGDAVSGTDVKIRNGLLNCNDCY
19:52220298-52220298 C>T	0.0	3879	MELANOMA	0.0005	-	-	-	HAS1	uc002pxp.1,p.R283Q|ENST00000594621,p.R138Q|ENST00000222115,p.R284Q|uc010epd.1,p.R249Q|uc002pxn.1,p.R291Q|NM_001523,p.R284Q|uc002pxo.1,p.R284Q|ENST00000540069,p.R283Q|NM_001297436,p.R283Q|ENST00000601714,p.R291Q	protein_coding	uc010epd.1	nonsynonymous SNV	exon2	c.G746A	p.R249Q	PLDSWVSFLSSLRYWVAFNVERACQ	PLDSWVSFLSSLQYWVAFNVERACQ	1.0	5.0	unscreened	-	3879_19:52220298-52220298 C>T_PLDSWVSFLSSLQYWVAFNVERACQ
19:9067485-9067485 G>A	0.0	3879	MELANOMA	-	-	-	2	MUC16	NM_024690,p.S6654F|ENST00000397910,p.S6654F|uc002mkp.3,p.S6654F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C19961T	p.S6654F	SEITRIEMESTFSLAHGLKGTSTSQ	SEITRIEMESTFFLAHGLKGTSTSQ	1.0	6.0	unscreened	-	3879_19:9067485-9067485 G>A_SEITRIEMESTFFLAHGLKGTSTSQ
X:100169425-100169425 C>T	0.0	3879	MELANOMA	-	-	-	-	XKRX	uc004egn.2,p.D418N|uc011mre.1,p.D214N|ENST00000328526,p.D431N|NM_212559,p.D418N|ENST00000372956,p.D418N	protein_coding	uc011mre.1	nonsynonymous SNV	exon2	c.G640A	p.D214N	HPLRSLFTHNVVDYLHCVCCHQHPR	HPLRSLFTHNVVNYLHCVCCHQHPR	1.0	10.0	unscreened	-	3879_X:100169425-100169425 C>T_HPLRSLFTHNVVNYLHCVCCHQHPR
X:73524232-73524232 C>T	0.0	3879	MELANOMA	-	-	-	-	ZCCHC13	uc004ebs.4,p.S44F|ENST00000339534,p.S44F|NM_203303,p.S44F	protein_coding	uc004ebs.4	nonsynonymous SNV	exon1	c.C131T	p.S44F	HGRGSQCGSTTLSYTCYCCGESGRN	HGRGSQCGSTTLFYTCYCCGESGRN	1.0	10.0	unscreened	-	3879_X:73524232-73524232 C>T_HGRGSQCGSTTLFYTCYCCGESGRN
X:111097117-111097117 G>A	0.0	3879	MELANOMA	-	-	-	-	TRPC5	uc004epl.1,p.S373F|uc004epm.1,p.S373F|ENST00000262839,p.S373F|NM_012471,p.S373F	protein_coding	uc004epm.1	nonsynonymous SNV	exon4	c.C1118T	p.S373F	KKPFIKFICHTASYLTFLFMLLLAS	KKPFIKFICHTAFYLTFLFMLLLAS	1.0	10.0	unscreened	-	3879_X:111097117-111097117 G>A_KKPFIKFICHTAFYLTFLFMLLLAS
19:57133154-57133154 T>A	1.0	3879	MELANOMA	-	-	-	-	ZNF71	NM_021216,p.F167I|uc002qnm.4,p.F167I|ENST00000328070,p.F167I|uc021vcg.1,p.F167I	protein_coding, processed_transcript	uc021vcg.1	nonsynonymous SNV	exon1	c.T499A	p.F167I	EKPFECDTCGKHFIERSSLTIHQRV	EKPFECDTCGKHIIERSSLTIHQRV	5.0	3.0	-	-	3879_19:57133154-57133154 T>A_EKPFECDTCGKHIIERSSLTIHQRV
1:196250030-196250030 C>T	0.0	3879	MELANOMA	-	-	-	-	KCNT2	uc001gte.1,p.G883E|uc001gtd.1,p.G957E|ENST00000367433,p.G933E|uc001gth.1,p.G454E|ENST00000294725,p.G957E|NM_001287819,p.G933E|uc009wyu.3,p.G933E|NM_198503,p.G957E|ENST00000367431,p.G883E|NM_001287820,p.G883E|uc001gtf.1,p.G933E	protein_coding, processed_transcript	uc009wyu.3	nonsynonymous SNV	exon24	c.G2798A	p.G933E	QKLCSSTGDVPIGIYRTESQKLTTS	QKLCSSTGDVPIEIYRTESQKLTTS	1.0	8.0	unscreened	-	3879_1:196250030-196250030 C>T_QKLCSSTGDVPIEIYRTESQKLTTS
13:52515238-52515238 C>T	1.0	3879	MELANOMA	-	-	-	-	ATP7B	uc010tgu.1,p.A1131T|ENST00000400370,p.A749T|uc010tgt.1,p.A1114T|ENST00000417240,p.A390T|NM_001243182,p.A1068T|ENST00000242839,p.A1179T|ENST00000448424,p.A1101T|ENST00000418097,p.A1114T|NM_000053,p.A1179T|uc001vfw.2,p.A1179T|uc001vfx.2,p.A972T|ENST00000400366,p.A1068T|uc001vfv.2,p.A451T|uc010tgv.1,p.A1101T|NM_001005918,p.A972T|uc010adv.2,p.A749T|uc010tgs.1,p.A390T|uc001vfy.2,p.A1068T|ENST00000344297,p.A972T	protein_coding, processed_transcript	uc010tgv.1	nonsynonymous SNV	exon15	c.G3301A	p.A1101T	DAMTDHEMKGQTAILVAIDGVLCGM	DAMTDHEMKGQTTILVAIDGVLCGM	3.0	4.0	unscreened	-	3879_13:52515238-52515238 C>T_DAMTDHEMKGQTTILVAIDGVLCGM
12:108912903-108912903 C>T	1.0	3879	MELANOMA	-	-	-	-	FICD	ENST00000552695,p.A343V|uc001tmx.1,p.A343V|NM_007076,p.A343V	protein_coding, processed_transcript	uc001tmx.1	nonsynonymous SNV	exon3	c.C1028T	p.A343V	MQEFVQWLNSEEAMNLHPVEFAALA	MQEFVQWLNSEEVMNLHPVEFAALA	4.0	4.0	-	-	3879_12:108912903-108912903 C>T_MQEFVQWLNSEEVMNLHPVEFAALA
12:70150295-70150295 G>A	1.0	3879	MELANOMA	-	-	-	-	RAB3IP	NM_175623,p.G137D|ENST00000362025,p.G137D|uc001svn.3,p.G121D|ENST00000483530,p.G121D|ENST00000552199,p.G137D|uc001svm.3,p.G121D|ENST00000550536,p.G137D|ENST00000549760,p.G121D|ENST00000378815,p.G121D|ENST00000247833,p.G121D|uc001svq.3,p.G137D|NM_175624,p.G121D|NM_022456,p.G121D|uc021rao.1,p.G121D|ENST00000378809,p.G137D|uc001svp.3,p.G137D|ENST00000417413,p.G121D|NM_175625,p.G137D	retained_intron, protein_coding, nonsense_mediated_decay	uc021rao.1	nonsynonymous SNV	exon3	c.G362A	p.G121D	KDNYNAEREFLQGATITEACDGSDD	KDNYNAEREFLQDATITEACDGSDD	4.0	4.0	unscreened	-	3879_12:70150295-70150295 G>A_KDNYNAEREFLQDATITEACDGSDD
11:58338132-58338132 G>A	1.0	3879	MELANOMA	-	-	-	-	LPXN	uc010rkj.2,p.S28F|uc001nmw.3,p.S23F|ENST00000395074,p.S23F|ENST00000528954,p.S28F|ENST00000530561,p.S23F|NM_004811,p.S23F|NM_001143995,p.S28F	retained_intron, protein_coding, nonsense_mediated_decay	uc010rkj.2	nonsynonymous SNV	exon2	c.C83T	p.S28F	LERSTLQDSDEYSNPAPLPLDQHSR	LERSTLQDSDEYFNPAPLPLDQHSR	3.0	10.0	-	-	3879_11:58338132-58338132 G>A_LERSTLQDSDEYFNPAPLPLDQHSR
10:88476155-88476155 C>T	0.0	3879	MELANOMA	-	-	-	-	LDB3	NM_001171610,p.P440S|NM_007078,p.P435S|uc001kdv.3,p.P435S|ENST00000352360,p.P178S|uc001kdu.3,p.P325S|uc010qmm.2,p.P440S|uc009xsz.3,p.P64S|ENST00000458213,p.P325S|ENST00000429277,p.P440S|NM_001080114,p.P325S|ENST00000263066,p.P325S|uc010qml.1,p.P372S|ENST00000361373,p.P435S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qmm.2	nonsynonymous SNV	exon10	c.C1318T	p.P440S	NYSPTPYTPSPAPAYTPSPAPAYTP	NYSPTPYTPSPASAYTPSPAPAYTP	6.0	9.0	unscreened	-	3879_10:88476155-88476155 C>T_NYSPTPYTPSPASAYTPSPAPAYTP
12:77423754-77423754 G>A	0.0	3879	MELANOMA	-	-	-	-	E2F7	ENST00000550669,p.P581S|ENST00000322886,p.P581S|ENST00000416496,p.P581S|NM_203394,p.P581S|uc001sym.4,p.P581S|uc009zse.3,p.P68S	retained_intron, protein_coding, nonsense_mediated_decay	uc009zse.3	nonsynonymous SNV	exon1	c.C202T	p.P68S	SGSERDDRSSEAPATVELSSAPSAQ	SGSERDDRSSEASATVELSSAPSAQ	4.0	7.0	unscreened	-	3879_12:77423754-77423754 G>A_SGSERDDRSSEASATVELSSAPSAQ
11:78433746-78433746 G>A	0.0	3879	MELANOMA	-	-	-	-	TENM4	uc001ozl.4,p.P1256L|NM_001098816,p.P1256L|ENST00000278550,p.P1256L	retained_intron, protein_coding, processed_transcript	uc001ozl.4	nonsynonymous SNV	exon24	c.C3767T	p.P1256L	YVGDFNYIRRIFPSGNVTNILELRN	YVGDFNYIRRIFLSGNVTNILELRN	2.0	4.0	unscreened	-	3879_11:78433746-78433746 G>A_YVGDFNYIRRIFLSGNVTNILELRN
19:38903610-38903610 G>A	0.0	3879	MELANOMA	-	-	-	-	RASGRP4	NM_001146202,p.P485L|uc021uuc.1,p.P407L|uc021uue.1,p.P310L|NM_001146205,p.P465L|ENST00000454404,p.P465L|uc021uud.1,p.P402L|ENST00000587753,p.P430L|ENST00000589358,p.P499L|ENST00000586305,p.P485L|NM_001146204,p.P430L|NM_001146207,p.P402L|uc021uub.1,p.P499L|uc021uua.1,p.P465L|ENST00000426920,p.P310L|ENST00000589474,p.P485L|NM_001146203,p.P407L|NM_001146206,p.P310L|uc021uuf.1,p.P485L|NM_170604,p.P499L|ENST00000433821,p.P407L|ENST00000587738,p.P499L|uc021utz.1,p.P430L|ENST00000293062,p.P402L	retained_intron, protein_coding, nonsense_mediated_decay	uc021uuf.1	nonsynonymous SNV	exon12	c.C1454T	p.P485L	SQEDFERLSGNFPFACHGLHPPPRQ	SQEDFERLSGNFLFACHGLHPPPRQ	1.0	2.0	unscreened	-	3879_19:38903610-38903610 G>A_SQEDFERLSGNFLFACHGLHPPPRQ
7:100675416-100675416 C>T	0.0	3879	MELANOMA	-	-	-	-	MUC17	ENST00000379439,p.P240L|NM_001040105,p.P240L|ENST00000306151,p.P240L|uc003uxp.1,p.P240L	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.C719T	p.P240L	VASSEAITLLTTPVEISTPVTISAQ	VASSEAITLLTTLVEISTPVTISAQ	1.0	5.0	unscreened	-	3879_7:100675416-100675416 C>T_VASSEAITLLTTLVEISTPVTISAQ
10:44053263-44053263 G>A	1.0	3879	MELANOMA	-	-	-	-	ZNF239	uc009xmj.3,p.H89Y|uc001jax.4,p.H89Y|NM_005674,p.H89Y|NM_001099282,p.H89Y|uc021pph.1,p.H89Y|NM_001099283,p.H89Y|ENST00000374446,p.H89Y|uc009xmk.3,p.H89Y|uc001jaw.4,p.H89Y|ENST00000306006,p.H89Y|ENST00000535642,p.H89Y|ENST00000426961,p.H89Y|NM_001099284,p.H89Y	protein_coding, processed_transcript	uc021pph.1	nonsynonymous SNV	exon1	c.C265T	p.H89Y	SSVKFCKNEPQDHQESRRLFVMEES	SSVKFCKNEPQDYQESRRLFVMEES	6.0	5.0	-	-	3879_10:44053263-44053263 G>A_SSVKFCKNEPQDYQESRRLFVMEES
1:24779928-24779928 C>T	1.0	3879	MELANOMA	-	-	-	-	NIPAL3	uc009vrc.3,p.L109F|ENST00000358028,p.L191F|ENST00000374399,p.L191F|NM_020448,p.L191F|ENST00000003912,p.L109F|ENST00000339255,p.L191F|uc010oek.2,p.L191F|uc001bjh.3,p.L191F|ENST00000428131,p.L191F	protein_coding, processed_transcript	uc010oek.2	nonsynonymous SNV	exon7	c.C571T	p.L191F	YMLVEIILFCLLLYFYKEKNANNIV	YMLVEIILFCLLFYFYKEKNANNIV	9.0	4.0	-	-	3879_1:24779928-24779928 C>T_YMLVEIILFCLLFYFYKEKNANNIV
19:59060581-59060581 C>A	1.0	3879	MELANOMA	-	-	-	-	TRIM28	ENST00000341753,p.P464T|ENST00000597136,p.P171T|NM_005762,p.P546T|uc002qth.1,p.P161T|uc010eut.1,p.P464T|uc002qtg.1,p.P546T|ENST00000253024,p.P546T	retained_intron, protein_coding	uc010eut.1	nonsynonymous SNV	exon10	c.C1390A	p.P464T	PGTAPAGTPGAPPLAGMAIVKEEET	PGTAPAGTPGAPTLAGMAIVKEEET	9.0	3.0	-	-	3879_19:59060581-59060581 C>A_PGTAPAGTPGAPTLAGMAIVKEEET
X:53966804-53966804 G>A	1.0	3879	MELANOMA	-	-	-	-	PHF8	ENST00000338946,p.S831F|uc004dst.3,p.S932F|NM_001184897,p.S831F|NM_001184896,p.S968F|ENST00000338154,p.S932F|uc004dsw.3,p.S831F|uc004dsu.3,p.S968F|uc004dsv.3,p.S798F|NM_015107,p.S932F|ENST00000357988,p.S968F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004dsw.3	nonsynonymous SNV	exon20	c.C2492T	p.S831F	PTVAATPQLVTSSSPLPPPEPKQEA	PTVAATPQLVTSFSPLPPPEPKQEA	7.0	10.0	-	-	3879_X:53966804-53966804 G>A_PTVAATPQLVTSFSPLPPPEPKQEA
6:7365715-7365715 C>T	0.0	3879	MELANOMA	-	-	-	-	CAGE1	uc003mxk.2,p.E727K|NM_205864,p.E564K|uc021ylc.1,p.E564K|NM_001170693,p.E727K|ENST00000512086,p.E700K|ENST00000338150,p.E727K|ENST00000296742,p.E564K	protein_coding, processed_transcript, nonsense_mediated_decay	uc021ylc.1	nonsynonymous SNV	exon7	c.G1690A	p.E564K	GAKLDKYHSLNEELDFLVTSYEEII	GAKLDKYHSLNEKLDFLVTSYEEII	1.0	2.0	unscreened	-	3879_6:7365715-7365715 C>T_GAKLDKYHSLNEKLDFLVTSYEEII
1:55337202-55337202 G>A	1.0	3879	MELANOMA	-	-	-	-	DHCR24	ENST00000535035,p.P192S|NM_014762,p.P233S|uc010ooj.1,p.P95S|ENST00000371269,p.P233S|ENST00000537443,p.P65S|uc010ook.1,p.P192S|uc001cyc.1,p.P233S	protein_coding	uc010ook.1	nonsynonymous SNV	exon5	c.C574T	p.P192S	LGFLVAAEIRIIPAKKYVKLRFEPV	LGFLVAAEIRIISAKKYVKLRFEPV	8.0	6.0	-	-	3879_1:55337202-55337202 G>A_LGFLVAAEIRIISAKKYVKLRFEPV
9:134183525-134183525 C>T	0.0	3879	MELANOMA	-	-	-	-	PPAPDC3	ENST00000372264,p.L223F|uc004cal.2,p.L223F|NM_032728,p.L223F	protein_coding	uc004cal.2	nonsynonymous SNV	exon2	c.C667T	p.L223F	AVPLRVLLVLWALCVGLSRVMIGRH	AVPLRVLLVLWAFCVGLSRVMIGRH	1.0	10.0	unscreened	-	3879_9:134183525-134183525 C>T_AVPLRVLLVLWAFCVGLSRVMIGRH
6:130530727-130530727 G>A	0.0	3879	MELANOMA	-	-	-	-	SAMD3	ENST00000532763,p.P97L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000532763	nonsynonymous SNV	exon4	c.C290T	p.P97L	TEAAREDEESSSPARHGEQMPSFYP	TEAAREDEESSSLARHGEQMPSFYP	1.0	9.0	unscreened	-	3879_6:130530727-130530727 G>A_TEAAREDEESSSLARHGEQMPSFYP
3:46722851-46722851 G>A	0.0	3879	MELANOMA	-	-	-	-	ALS2CL	NM_147129,p.R441W|ENST00000415953,p.R441W|ENST00000318962,p.R441W|uc003cqb.2,p.R441W|NM_001190707,p.R441W|ENST00000450172,p.R441W|uc003cqa.2,p.R441W	retained_intron, protein_coding, nonsense_mediated_decay	uc003cqb.2	nonsynonymous SNV	exon13	c.C1321T	p.R441W	DEVYKGYFQEGLRHGFGVLESGPQA	DEVYKGYFQEGLWHGFGVLESGPQA	2.0	10.0	unscreened	-	3879_3:46722851-46722851 G>A_DEVYKGYFQEGLWHGFGVLESGPQA
3:58849286-58849286 C>T	1.0	3879	MELANOMA	-	-	-	-	C3orf67	uc003dks.1,p.E221K|uc003dkv.1,p.E221K|ENST00000482387,p.E406K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003dkv.1	nonsynonymous SNV	exon12	c.G661A	p.E221K	SEDDFYGGDSSEEGNHSIQGSRGPT	SEDDFYGGDSSEKGNHSIQGSRGPT	7.0	10.0	-	-	3879_3:58849286-58849286 C>T_SEDDFYGGDSSEKGNHSIQGSRGPT
6:75899461-75899461 A>C	0.0	3879	MELANOMA	-	-	-	-	COL12A1	ENST00000322507,p.N155K|NM_004370,p.N155K|uc003phs.3,p.N155K|ENST00000416123,p.N155K|uc021zbv.1,p.N155K|ENST00000483888,p.N155K	retained_intron, protein_coding, processed_transcript	uc021zbv.1	nonsynonymous SNV	exon5	c.T465G	p.N155K	FLVDGSWSVGRNNFKYILDFIAALV	FLVDGSWSVGRNKFKYILDFIAALV	6.0	8.0	unscreened	-	3879_6:75899461-75899461 A>C_FLVDGSWSVGRNKFKYILDFIAALV
12:21032384-21032384 C>T	0.0	3879	MELANOMA	-	-	-	-	SLCO1B3	ENST00000540229,p.P384S|ENST00000381545,p.P384S|uc001rel.4,p.P384S|ENST00000544370,p.P208S|ENST00000553473,p.P384S|uc010sil.2,p.P384S|ENST00000261196,p.P384S|NM_019844,p.P384S	 nonsense_mediated_decay,protein_coding	uc010sil.2	nonsynonymous SNV	exon9	c.C1150T	p.P384S	SHANFLLGIITIPTVATGMFLGGFI	SHANFLLGIITISTVATGMFLGGFI	1.0	4.0	unscreened	-	3879_12:21032384-21032384 C>T_SHANFLLGIITISTVATGMFLGGFI
1:198723526-198723526 C>T	0.0	3879	MELANOMA	-	-	-	1	PTPRC	ENST00000348564,p.S1052F|NM_002838,p.S1213F|ENST00000352140,p.S1163F|ENST00000442510,p.S1213F|uc001gut.2,p.S1052F|ENST00000594404,p.S1050F|ENST00000367376,p.S1211F|NM_080921,p.S1052F|uc001gur.2,p.S1213F	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc001gut.2	nonsynonymous SNV	exon29	c.C3155T	p.S1052F	VKALRKARPGMVSTFEQYQFLYDVI	VKALRKARPGMVFTFEQYQFLYDVI	2.0	1.0	unscreened	-	3879_1:198723526-198723526 C>T_VKALRKARPGMVFTFEQYQFLYDVI
13:113803328-113803328 G>A	0.0	3879	MELANOMA	-	-	-	-	F10	uc001vsx.3,p.D322N|NM_000504,p.D322N|ENST00000375559,p.D322N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001vsx.3	nonsynonymous SNV	exon8	c.G964A	p.D322N	KHNRFTKETYDFDIAVLRLKTPITF	KHNRFTKETYDFNIAVLRLKTPITF	1.0	6.0	unscreened	-	3879_13:113803328-113803328 G>A_KHNRFTKETYDFNIAVLRLKTPITF
9:135206697-135206697 C>T	1.0	3879	MELANOMA	-	-	-	-	SETX	ENST00000224140,p.R326K|uc004cbk.3,p.R326K|ENST00000372169,p.R326K|ENST00000393220,p.R326K|NM_015046,p.R326K	protein_coding, processed_transcript	uc004cbk.3	nonsynonymous SNV	exon8	c.G977A	p.R326K	AFQTIINNASYNREIRHIRNSSVRT	AFQTIINNASYNKEIRHIRNSSVRT	8.0	9.0	-	-	3879_9:135206697-135206697 C>T_AFQTIINNASYNKEIRHIRNSSVRT
4:77357305-77357305 G>A	0.0	3879	MELANOMA	-	-	-	-	SHROOM3	NM_020859,p.G34R|ENST00000296043,p.G34R|uc011cbx.2,p.G34R	retained_intron, protein_coding, processed_transcript	uc011cbx.2	nonsynonymous SNV	exon1	c.G100A	p.G34R	KGRYIYLEAFLEGGAPWGFTLKGGL	KGRYIYLEAFLERGAPWGFTLKGGL	2.0	5.0	unscreened	-	3879_4:77357305-77357305 G>A_KGRYIYLEAFLERGAPWGFTLKGGL
15:50535429-50535429 C>T	0.0	3879	MELANOMA	-	-	-	-	HDC	ENST00000543581,p.A352T|uc010uff.2,p.A352T	retained_intron, protein_coding	uc010uff.2	nonsynonymous SNV	exon10	c.G1054A	p.A352T	SGVATDFMGTEMAKYFESLVRNDPS	SGVATDFMGTEMTKYFESLVRNDPS	1.0	9.0	unscreened	-	3879_15:50535429-50535429 C>T_SGVATDFMGTEMTKYFESLVRNDPS
12:54925348-54925348 C>A	0.0	3879	MELANOMA	-	-	-	-	NCKAP1L	ENST00000545638,p.S843Y|uc001sgc.4,p.S893Y|ENST00000293373,p.S893Y|uc010sox.2,p.S435Y|NM_005337,p.S893Y|NM_001184976,p.S843Y|uc010soy.2,p.S843Y	retained_intron, protein_coding, nonsense_mediated_decay	uc010soy.2	nonsynonymous SNV	exon24	c.C2528A	p.S843Y	IRSNFSKPDLMASLLPQLTGAENVL	IRSNFSKPDLMAYLLPQLTGAENVL	1.0	3.0	unscreened	-	3879_12:54925348-54925348 C>A_IRSNFSKPDLMAYLLPQLTGAENVL
2:135655912-135655912 A>T	0.0	3879	MELANOMA	-	-	-	-	ACMSD	ENST00000392928,p.D226V|uc002tua.3,p.D226V|uc002ttz.3,p.D284V|ENST00000356140,p.D284V|ENST00000283054,p.D226V|NM_138326,p.D284V	retained_intron, protein_coding	uc002tua.3	nonsynonymous SNV	exon9	c.A677T	p.D226V	LSLKLLTDVIGKDKVILGTDYPFPL	LSLKLLTDVIGKVKVILGTDYPFPL	1.0	3.0	unscreened	-	3879_2:135655912-135655912 A>T_LSLKLLTDVIGKVKVILGTDYPFPL
16:26147239-26147239 C>A	0.0	3879	MELANOMA	-	-	-	-	HS3ST4	uc002dof.3,p.F347L|NM_006040,p.F347L|ENST00000331351,p.F347L	protein_coding, processed_transcript	uc002dof.3	nonsynonymous SNV	exon2	c.C1041A	p.F347L	IYALHLENWLQYFPLSQILFVSGER	IYALHLENWLQYLPLSQILFVSGER	1.0	7.0	unscreened	-	3879_16:26147239-26147239 C>A_IYALHLENWLQYLPLSQILFVSGER
20:34025651-34025651 C>T	0.0	3879	MELANOMA	-	-	-	-	GDF5	ENST00000374372,p.E20K|uc002xck.1,p.E20K|NM_000557,p.E20K|ENST00000374369,p.E20K|uc010gfc.1,p.E20K	protein_coding	uc010gfc.1	nonsynonymous SNV	exon1	c.G58A	p.E20K	TFLLWYLAWLDLEFICTVLGAPDLG	TFLLWYLAWLDLKFICTVLGAPDLG	1.0	8.0	unscreened	-	3879_20:34025651-34025651 C>T_TFLLWYLAWLDLKFICTVLGAPDLG
11:58338132-58338132 G>A	1.0	3879	MELANOMA	-	-	-	-	LPXN	uc010rkk.2,p.P19S|ENST00000528489,p.P19S	retained_intron, protein_coding, nonsense_mediated_decay	uc010rkk.2	nonsynonymous SNV	exon2	c.C55T	p.P19S	WNAPPFRTVMNIPTQLLFPWISIPE	WNAPPFRTVMNISTQLLFPWISIPE	3.0	10.0	-	-	3879_11:58338132-58338132 G>A_WNAPPFRTVMNISTQLLFPWISIPE
14:73969604-73969604 T>C	1.0	3879	MELANOMA	-	-	-	-	HEATR4	ENST00000560393,p.I653M|uc021rwe.1,p.I700M|uc010tub.1,p.I700M|ENST00000553558,p.I700M|uc021rwf.2,p.I700M|ENST00000334988,p.I700M|NM_001220484,p.I700M|NM_203309,p.I700M	protein_coding, processed_transcript	uc021rwf.2	nonsynonymous SNV	exon10	c.A2100G	p.I700M	LGQMSLGKEVHDIIRVKLGQGNSQE	LGQMSLGKEVHDMIRVKLGQGNSQE	2.0	7.0	unscreened	-	3879_14:73969604-73969604 T>C_LGQMSLGKEVHDMIRVKLGQGNSQE
2:20840708-20840708 G>A	0.0	3879	MELANOMA	-	-	-	-	HS1BP3	uc002rdy.3,p.P144L|ENST00000406618,p.P144L	protein_coding, nonsense_mediated_decay	uc002rdy.3	nonsynonymous SNV	exon3	c.C431T	p.P144L	LEFLGTQGSAPCPSGLPGPELGPAA	LEFLGTQGSAPCLSGLPGPELGPAA	7.0	3.0	unscreened	-	3879_2:20840708-20840708 G>A_LEFLGTQGSAPCLSGLPGPELGPAA
6:64004906-64004906 C>T	0.0	3879	MELANOMA	-	-	-	-	LGSN	ENST00000485906,p.M25I|NM_016571,p.M25I|ENST00000370658,p.M25I|uc003pej.1,p.M25I|NM_001143940,p.M25I|ENST00000370657,p.M25I|uc003peh.3,p.M25I|uc003pei.3,p.M25I	protein_coding, nonsense_mediated_decay	uc003pej.1	nonsynonymous SNV	exon2	c.G75A	p.M25I	TRDEGNETEANSMNTLRRTRKKVTK	TRDEGNETEANSINTLRRTRKKVTK	1.0	9.0	unscreened	-	3879_6:64004906-64004906 C>T_TRDEGNETEANSINTLRRTRKKVTK
14:92537386-92537388 TTT>-	0.0	3879	MELANOMA	-	-	ID=COSM1477849;OCCURENCE=2(NS),1(breast)	-	ATXN3	NM_001164774,p.67_67del|uc021rzi.1,p.67_67del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021rzi.1	nonframeshift deletion	exon3	c.199_201del	p.67_67del	SEDYRTFLQTAAKAATAAAAAAAGG	SEDYRTFLQTAAAATAAAAAAAGGP	8.0	1.0	unscreened	-	3879_14:92537386-92537388 TTT>-_SEDYRTFLQTAAAATAAAAAAAGGP
X:3235583-3235583 G>A	0.0	3879	MELANOMA	-	-	-	-	MXRA5	NM_015419,p.P2047S|ENST00000217939,p.P2047S|uc004crg.4,p.P2047S	protein_coding	uc004crg.4	nonsynonymous SNV	exon6	c.C6139T	p.P2047S	SLAIRLHVAALPPVIHQEKLENISL	SLAIRLHVAALPSVIHQEKLENISL	4.0	10.0	unscreened	-	3879_X:3235583-3235583 G>A_SLAIRLHVAALPSVIHQEKLENISL
9:35808592-35808592 G>A	1.0	3879	MELANOMA	-	-	-	-	NPR2	ENST00000342694,p.M933I|NM_003995,p.M933I|uc010mlb.3,p.M909I|uc003zyd.3,p.M933I	retained_intron, protein_coding, nonsense_mediated_decay	uc010mlb.3	nonsynonymous SNV	exon18	c.G2727A	p.M909I	RNGQRHAPEIARMALALLDAVSSFR	RNGQRHAPEIARIALALLDAVSSFR	5.0	8.0	unscreened	-	3879_9:35808592-35808592 G>A_RNGQRHAPEIARIALALLDAVSSFR
16:69711127-69711127 C>A	1.0	3879	MELANOMA	-	-	-	-	NFAT5	ENST00000393742,p.P433T|ENST00000349945,p.P433T|uc002exj.2,p.P433T|uc002exk.2,p.P433T|NM_138714,p.P433T|ENST00000567239,p.P527T|uc002exm.2,p.P509T|ENST00000566899,p.P433T|uc002exn.2,p.P527T|ENST00000354436,p.P509T|NM_173214,p.P433T|ENST00000432919,p.P527T|NM_006599,p.P509T|uc002exh.2,p.P303T|NM_001113178,p.P527T|NM_138713,p.P527T|NM_173215,p.P433T|uc002exi.3,p.P433T|uc002exl.2,p.P527T	retained_intron, protein_coding, nonsense_mediated_decay	uc002exn.2	nonsynonymous SNV	exon10	c.C1579A	p.P527T	ELFHQNHLIVKVPPYHDQHITLPVS	ELFHQNHLIVKVTPYHDQHITLPVS	10.0	2.0	-	-	3879_16:69711127-69711127 C>A_ELFHQNHLIVKVTPYHDQHITLPVS
2:209113113-209113113 G>A	1.0	3879	MELANOMA	-	-	ID=COSM28747;OCCURENCE=212(haematopoietic_and_lymphoid_tissue),3(NS),184(bone),106(central_nervous_system),1(prostate),3(large_intestine),33(biliary_tract),3(liver),6(skin),1(breast),11(soft_tissue),1(autonomic_ganglia)	1	IDH1	uc002vcs.3,p.R132C|NM_001282387,p.R132C|ENST00000446179,p.R132C|uc002vct.3,p.R132C|uc002vcu.3,p.R132C|ENST00000415282,p.R132C|ENST00000345146,p.R132C|NM_001282386,p.R132C|NM_005896,p.R132C|ENST00000415913,p.R132C	retained_intron, protein_coding	uc002vcu.3	nonsynonymous SNV	exon4	c.C394T	p.R132C	LVSGWVKPIIIGRHAYGDQYRATDF	LVSGWVKPIIIGCHAYGDQYRATDF	9.0	6.0	-	-	3879_2:209113113-209113113 G>A_LVSGWVKPIIIGCHAYGDQYRATDF
17:3336936-3336936 G>A	0.0	3879	MELANOMA	-	-	-	-	OR1E2	ENST00000248384,p.S67F|NM_003554,p.S67F|uc010vre.2,p.S67F	protein_coding	uc010vre.2	nonsynonymous SNV	exon1	c.C200T	p.S67F	LHTPVYLFLSNLSFSDLCFSSVTMP	LHTPVYLFLSNLFFSDLCFSSVTMP	1.0	9.0	unscreened	-	3879_17:3336936-3336936 G>A_LHTPVYLFLSNLFFSDLCFSSVTMP
15:90796519-90796519 G>A	0.0	3879	MELANOMA	-	-	-	-	TTLL13	ENST00000438251,p.G113R|ENST00000339615,p.G113R|uc002bpd.1,p.G113R|ENST00000561573,p.G113R	nonsense_mediated_decay,protein_coding	uc002bpd.1	nonsynonymous SNV	exon4	c.G337A	p.G113R	RRAAQMCGLKEVGEDEEWTLYWTDC	RRAAQMCGLKEVREDEEWTLYWTDC	1.0	1.0	unscreened	-	3879_15:90796519-90796519 G>A_RRAAQMCGLKEVREDEEWTLYWTDC
11:59211129-59211129 C>T	0.0	3879	MELANOMA	-	-	-	-	OR5A1	uc001nnx.1,p.A163V|NM_001004728,p.A163V|ENST00000302030,p.A163V	protein_coding	uc001nnx.1	nonsynonymous SNV	exon1	c.C488T	p.A163V	AYVGGFLSSLIQASSIFRLHFCGPN	AYVGGFLSSLIQVSSIFRLHFCGPN	1.0	10.0	unscreened	-	3879_11:59211129-59211129 C>T_AYVGGFLSSLIQVSSIFRLHFCGPN
11:62375169-62375169 C>G	1.0	3879	MELANOMA	-	-	-	-	EML3	ENST00000529309,p.G444A|uc001nts.1,p.G416A|uc009yny.1,p.G227A|ENST00000278845,p.G445A|uc001ntu.1,p.G444A|NM_001300794,p.G444A|uc001ntt.1,p.G328A|ENST00000531557,p.G227A|ENST00000494176,p.G416A|NM_001300793,p.G445A|uc001ntr.1,p.G416A|ENST00000394773,p.G444A|NM_153265,p.G444A|uc010rly.1,p.G444A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rly.1	nonsynonymous SNV	exon11	c.G1331C	p.G444A	WNWSGGVGVPGNGTLTRKQGVFGKY	WNWSGGVGVPGNATLTRKQGVFGKY	7.0	5.0	-	-	3879_11:62375169-62375169 C>G_WNWSGGVGVPGNATLTRKQGVFGKY
4:69198527-69198527 G>T	1.0	3879	MELANOMA	-	-	-	-	YTHDC1	ENST00000344157,p.R338S|NM_001031732,p.R338S|ENST00000579690,p.R338S|uc003hdx.3,p.R338S	retained_intron, protein_coding	uc003hdx.3	nonsynonymous SNV	exon6	c.C1012A	p.R338S	SEKKHEKLSSSVRAVRKDQTSKLKY	SEKKHEKLSSSVSAVRKDQTSKLKY	10.0	3.0	-	-	3879_4:69198527-69198527 G>T_SEKKHEKLSSSVSAVRKDQTSKLKY
X:63410414-63410414 G>A	1.0	3879	MELANOMA	-	-	-	1	AMER1	NM_152424,p.S918F|uc022byb.1,p.S918F|uc004dvo.3,p.S918F|ENST00000330258,p.S918F	protein_coding	uc022byb.1	nonsynonymous SNV	exon1	c.C2753T	p.S918F	LSNSHLVQGYLESDELQAQQEDSDE	LSNSHLVQGYLEFDELQAQQEDSDE	5.0	10.0	-	-	3879_X:63410414-63410414 G>A_LSNSHLVQGYLEFDELQAQQEDSDE
1:144867983-144867983 C>T	0.0	3879	MELANOMA	-	-	-	1	PDE4DIP	uc021ouh.1,p.G1819E|ENST00000369359,p.G1955E|uc001elx.4,p.G1713E|NM_001198834,p.G1819E|NM_014644,p.G1819E|ENST00000369356,p.G1819E|uc001elw.4,p.G1819E|ENST00000313382,p.G1713E|uc001elv.4,p.G826E|NM_001198832,p.G1713E|ENST00000530740,p.G1904E|ENST00000369354,p.G1819E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ouh.1	nonsynonymous SNV	exon33	c.G5456A	p.G1819E	SSGKWDVMRPQKGSVSGDLSSGSSV	SSGKWDVMRPQKESVSGDLSSGSSV	9.0	2.0	unscreened	-	3879_1:144867983-144867983 C>T_SSGKWDVMRPQKESVSGDLSSGSSV
1:27023769-27023769 C>A	0.0	3879	MELANOMA	-	-	-	1	ARID1A	ENST00000324856,p.T292N|uc001bmu.1,p.T292N|NM_139135,p.T292N|NM_006015,p.T292N|uc001bmt.1,p.T292N|uc001bmv.1,p.T292N|ENST00000457599,p.T292N	retained_intron, protein_coding, nonsense_mediated_decay	uc001bmv.1	nonsynonymous SNV	exon1	c.C875A	p.T292N	SAAGGGTPQPTATPTLNQLLTSPSS	SAAGGGTPQPTANPTLNQLLTSPSS	9.0	1.0	unscreened	-	3879_1:27023769-27023769 C>A_SAAGGGTPQPTANPTLNQLLTSPSS
15:42019476-42019476 C>T	1.0	3879	MELANOMA	-	-	-	-	MGA	NM_001164273,p.P1177S|ENST00000566586,p.P1177S|ENST00000389936,p.P1177S|uc010ucy.2,p.P1177S|ENST00000219905,p.P1177S|uc010ucz.2,p.P1177S|ENST00000570161,p.P1177S|ENST00000545763,p.P1177S|NM_001080541,p.P1177S	retained_intron, protein_coding, processed_transcript	uc010ucz.2	nonsynonymous SNV	exon10	c.C3529T	p.P1177S	GEVDPEPVYIPTPSVIEPMKPLLLP	GEVDPEPVYIPTSSVIEPMKPLLLP	8.0	10.0	-	-	3879_15:42019476-42019476 C>T_GEVDPEPVYIPTSSVIEPMKPLLLP
6:31084433-31084433 G>A	0.0	3879	MELANOMA	-	-	-	-	CDSN	uc003nsm.2,p.P320L|NM_001264,p.P320L|ENST00000376288,p.P320L	protein_coding	uc003nsm.2	nonsynonymous SNV	exon2	c.C959T	p.P320L	VPGMTYSKGKIYPVGYFTKENPVKG	VPGMTYSKGKIYLVGYFTKENPVKG	1.0	2.0	unscreened	-	3879_6:31084433-31084433 G>A_VPGMTYSKGKIYLVGYFTKENPVKG
19:9070647-9070647 C>T	0.0	3879	MELANOMA	-	-	-	2	MUC16	NM_024690,p.G5600E|ENST00000397910,p.G5600E|uc002mkp.3,p.G5600E	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.G16799A	p.G5600E	LFQGGTHSTVSQGFPHSEITTLRSR	LFQGGTHSTVSQEFPHSEITTLRSR	1.0	7.0	unscreened	-	3879_19:9070647-9070647 C>T_LFQGGTHSTVSQEFPHSEITTLRSR
15:89398236-89398236 C>T	0.0	3879	MELANOMA	-	-	-	-	ACAN	NM_001135,p.P807L|uc010upp.1,p.P807L|ENST00000352105,p.P807L|uc010upo.1,p.P807L|NM_013227,p.P807L|ENST00000439576,p.P807L|ENST00000561243,p.P807L|ENST00000559004,p.P807L	retained_intron, protein_coding	uc010upp.1	nonsynonymous SNV	exon12	c.C2420T	p.P807L	PSEEPSPSEEPFPSVRPFPSVELFP	PSEEPSPSEEPFLSVRPFPSVELFP	4.0	2.0	unscreened	-	3879_15:89398236-89398236 C>T_PSEEPSPSEEPFLSVRPFPSVELFP
2:98846616-98846616 G>A	0.0	3879	MELANOMA	-	-	-	-	VWA3B	uc002sym.3,p.G752R|uc002syr.1,p.G69R|uc010yvi.1,p.G409R|uc002syo.3,p.G752R|uc002syq.1,p.G28R|NM_144992,p.G752R|ENST00000477737,p.G752R|uc002syp.1,p.G144R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yvi.1	nonsynonymous SNV	exon10	c.G1225A	p.G409R	DSTQTSSLNMLKGPWGLSDQKVQKK	DSTQTSSLNMLKRPWGLSDQKVQKK	1.0	1.0	unscreened	-	3879_2:98846616-98846616 G>A_DSTQTSSLNMLKRPWGLSDQKVQKK
2:220355471-220355471 G>A	0.0	3879	MELANOMA	-	-	-	-	SPEG	uc010fwg.3,p.D3060N|NM_005876,p.D3060N|ENST00000312358,p.D3060N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fwg.3	nonsynonymous SNV	exon38	c.G9178A	p.D3060N	LCGLSDRFRYSEDDVATYMVQLLQG	LCGLSDRFRYSENDVATYMVQLLQG	2.0	4.0	unscreened	-	3879_2:220355471-220355471 G>A_LCGLSDRFRYSENDVATYMVQLLQG
5:40853827-40853827 G>A	1.0	3879	MELANOMA	-	-	-	-	CARD6	ENST00000254691,p.R798K|uc003jmg.3,p.R798K|NM_032587,p.R798K	protein_coding	uc003jmg.3	nonsynonymous SNV	exon3	c.G2393A	p.R798K	QSFHPQIFYSGERFMKFSRVARGCH	QSFHPQIFYSGEKFMKFSRVARGCH	6.0	5.0	-	-	3879_5:40853827-40853827 G>A_QSFHPQIFYSGEKFMKFSRVARGCH
1:159284394-159284394 C>T	0.0	3879	MELANOMA	-	-	-	-	OR10J3	ENST00000332217,p.S19N|NM_001004467,p.S19N|uc010piu.2,p.S19N	protein_coding	uc010piu.2	nonsynonymous SNV	exon1	c.G56A	p.S19N	TFVTEFLFEGFSSFRRQHKLVFFVV	TFVTEFLFEGFSNFRRQHKLVFFVV	1.0	1.0	unscreened	-	3879_1:159284394-159284394 C>T_TFVTEFLFEGFSNFRRQHKLVFFVV
3:58849286-58849286 C>T	1.0	3879	MELANOMA	-	-	-	-	C3orf67	NM_198463,p.E406K|uc003dkt.1,p.E406K|ENST00000295966,p.E406K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003dkt.1	nonsynonymous SNV	exon12	c.G1216A	p.E406K	SEDDFYGGDSSEEEYDWRNYQPSQM	SEDDFYGGDSSEKEYDWRNYQPSQM	7.0	10.0	-	-	3879_3:58849286-58849286 C>T_SEDDFYGGDSSEKEYDWRNYQPSQM
5:140778884-140778884 C>T	1.0	3879	MELANOMA	-	-	-	-	PCDHGB5	NM_032099,p.S397L|NM_018925,p.S397L|uc003lkf.2,p.S397L|uc011daw.2,p.S397L	protein_coding	uc011daw.2	nonsynonymous SNV	exon1	c.C1190T	p.S397L	EVPFKIISSSKNSYKLVTDGTLDRE	EVPFKIISSSKNLYKLVTDGTLDRE	5.0	3.0	-	-	3879_5:140778884-140778884 C>T_EVPFKIISSSKNLYKLVTDGTLDRE
9:113168560-113168560 T>A	0.0	3879	MELANOMA	-	-	-	-	SVEP1	NM_153366,p.K3107I|uc010mty.3,p.K1033I|ENST00000401783,p.K3107I|uc010mtz.3,p.K3107I|ENST00000374469,p.K3084I|ENST00000297826,p.K1033I	protein_coding, processed_transcript	uc010mtz.3	nonsynonymous SNV	exon38	c.A9320T	p.K3107I	VIQGSSDLICTEKGVWSQPYPVCEP	VIQGSSDLICTEIGVWSQPYPVCEP	2.0	10.0	unscreened	-	3879_9:113168560-113168560 T>A_VIQGSSDLICTEIGVWSQPYPVCEP
21:44838191-44838191 G>A	1.0	3879	MELANOMA	-	-	-	-	SIK1	NM_173354,p.P565S|uc002zdf.2,p.P565S|ENST00000270162,p.P565S	retained_intron, protein_coding	uc002zdf.2	nonsynonymous SNV	exon12	c.C1693T	p.P565S	QAQGGLGGAVLLPVSFQEGRRASDT	QAQGGLGGAVLLSVSFQEGRRASDT	7.0	7.0	-	-	3879_21:44838191-44838191 G>A_QAQGGLGGAVLLSVSFQEGRRASDT
19:16918703-16918703 C>T	0.0	3879	MELANOMA	-	-	-	-	NWD1	ENST00000549814,p.P1306L|NM_001290355,p.P1213L|NM_001007525,p.P1348L|ENST00000339803,p.P1213L|ENST00000524140,p.P1348L|uc002net.4,p.P1213L|uc002nev.4,p.P1142L|ENST00000379808,p.P1348L|uc002neu.4,p.P1348L|ENST00000523826,p.P1142L|ENST00000552788,p.P1348L	protein_coding, nonsense_mediated_decay	uc002nev.4	nonsynonymous SNV	exon17	c.C3425T	p.P1142L	IDGPRYTFYTQLPETLSSVAILTDY	IDGPRYTFYTQLLETLSSVAILTDY	1.0	5.0	unscreened	-	3879_19:16918703-16918703 C>T_IDGPRYTFYTQLLETLSSVAILTDY
19:16612234-16612234 C>T	1.0	3879	MELANOMA	-	-	-	-	C19orf44	ENST00000221671,p.P211S|uc002neh.1,p.P211S|uc002nef.1,p.P211S|ENST00000596592,p.P211S|ENST00000593380,p.P211S|ENST00000594035,p.P211S|NM_001288834,p.P211S|NM_032207,p.P211S|uc002neg.3,p.P211S	protein_coding, nonsense_mediated_decay	uc002neh.1	nonsynonymous SNV	exon2	c.C631T	p.P211S	PKQKEPARTFDSPDSDEEEMKVLLG	PKQKEPARTFDSSDSDEEEMKVLLG	7.0	6.0	-	-	3879_19:16612234-16612234 C>T_PKQKEPARTFDSSDSDEEEMKVLLG
1:223985992-223985992 G>A	1.0	3879	MELANOMA	-	-	-	-	TP53BP2	uc010pvb.2,p.P625S|NM_001031685,p.P625S|ENST00000391878,p.P496S|NM_005426,p.P496S|ENST00000343537,p.P625S|uc001hod.3,p.P496S|uc010pva.2,p.P264S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010pvb.2	nonsynonymous SNV	exon12	c.C1873T	p.P625S	SSIYSMYTQQQAPGKNFQQAVQSAL	SSIYSMYTQQQASGKNFQQAVQSAL	9.0	8.0	-	-	3879_1:223985992-223985992 G>A_SSIYSMYTQQQASGKNFQQAVQSAL
11:92533915-92533915 G>A	0.0	3879	MELANOMA	-	-	-	2	FAT3	ENST00000525166,p.G2429E|ENST00000409404,p.G2579E|ENST00000298047,p.G2579E|NM_001008781,p.G2579E|uc001pdj.4,p.G2579E	retained_intron, protein_coding, processed_transcript	uc001pdj.4	nonsynonymous SNV	exon9	c.G7736A	p.G2579E	DVSIFVRALDGGGRTTFCTVRVIVV	DVSIFVRALDGGERTTFCTVRVIVV	2.0	10.0	unscreened	-	3879_11:92533915-92533915 G>A_DVSIFVRALDGGERTTFCTVRVIVV
6:7365715-7365715 C>T	0.0	3879	MELANOMA	-	-	-	-	CAGE1	ENST00000379918,p.E705K|ENST00000502583,p.E727K|NM_001170692,p.E727K|uc003mxl.2,p.E727K|uc003mxj.3,p.E482K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003mxl.2	nonsynonymous SNV	exon9	c.G2179A	p.E727K	GAKLDKYHSLNEELDFLITKLGHLL	GAKLDKYHSLNEKLDFLITKLGHLL	1.0	2.0	unscreened	-	3879_6:7365715-7365715 C>T_GAKLDKYHSLNEKLDFLITKLGHLL
6:33690842-33690842 C>G	0.0	3879	MELANOMA	-	-	-	-	IP6K3	uc010jvf.2,p.R296S|uc003ofb.2,p.R296S|NM_054111,p.R296S|ENST00000293756,p.R296S|ENST00000451316,p.R296S|NM_001142883,p.R296S	protein_coding	uc010jvf.2	nonsynonymous SNV	exon7	c.G888C	p.R296S	LYQFLHNGSHLRRELLEPILHQLRA	LYQFLHNGSHLRSELLEPILHQLRA	3.0	1.0	unscreened	-	3879_6:33690842-33690842 C>G_LYQFLHNGSHLRSELLEPILHQLRA
19:55451573-55451573 C>T	0.0	3879	MELANOMA	-	-	-	-	NLRP7	uc010esl.3,p.R233K|NM_206828,p.R205K|ENST00000586379,p.R205K|ENST00000446217,p.R233K|ENST00000328092,p.R205K|uc002qih.4,p.R205K|ENST00000448121,p.R205K|ENST00000592784,p.R205K|uc002qig.4,p.R205K|uc010esk.3,p.R205K|uc002qii.4,p.R205K|NM_001127255,p.R205K|NM_139176,p.R205K|ENST00000590030,p.R205K|ENST00000340844,p.R205K|ENST00000588756,p.R205K	protein_coding, nonsense_mediated_decay	uc010esl.3	nonsynonymous SNV	exon6	c.G698A	p.R233K	LDWTDCNLSPTLRYAFYLSCKELSR	LDWTDCNLSPTLKYAFYLSCKELSR	1.0	4.0	unscreened	-	3879_19:55451573-55451573 C>T_LDWTDCNLSPTLKYAFYLSCKELSR
X:131212241-131212241 G>A	0.0	3879	MELANOMA	-	-	-	-	FRMD7	NM_194277,p.P602S|uc022cdy.1,p.P482S|ENST00000298542,p.P602S|uc004ewn.3,p.P602S|ENST00000464296,p.P587S|ENST00000370879,p.P482S|uc011muy.2,p.P587S	protein_coding	uc022cdy.1	nonsynonymous SNV	exon8	c.C1444T	p.P482S	SQSQSDMKTIRFPFGSEFRPLGPCP	SQSQSDMKTIRFSFGSEFRPLGPCP	1.0	10.0	unscreened	-	3879_X:131212241-131212241 G>A_SQSQSDMKTIRFSFGSEFRPLGPCP
3:98217254-98217254 C>T	0.0	3879	MELANOMA	-	-	-	-	OR5K2	uc011bgx.2,p.H244Y|ENST00000427338,p.H244Y|NM_001004737,p.H244Y	protein_coding	uc011bgx.2	nonsynonymous SNV	exon1	c.C730T	p.H244Y	EGRAKAFSTCASHFSSVSLFYGSIF	EGRAKAFSTCASYFSSVSLFYGSIF	1.0	10.0	unscreened	-	3879_3:98217254-98217254 C>T_EGRAKAFSTCASYFSSVSLFYGSIF
6:55120104-55120104 G>A	0.0	3879	MELANOMA	-	-	-	-	HCRTR2	NM_001526,p.M191I|uc010jzw.1,p.M126I|ENST00000370862,p.M191I|uc003pcl.3,p.M191I	protein_coding	uc010jzw.1	nonsynonymous SNV	exon3	c.G378A	p.M126I	VSCIIMIPQAIVMECSTVFPGLANK	VSCIIMIPQAIVIECSTVFPGLANK	1.0	8.0	unscreened	-	3879_6:55120104-55120104 G>A_VSCIIMIPQAIVIECSTVFPGLANK
5:140772989-140772989 G>-	0.0	3879	MELANOMA	-	-	-	-	PCDHGA8	NM_032088,p.E203fs|ENST00000398604,p.E203fs|uc003lkd.2,p.E203fs|NM_014004,p.E203fs|uc003lkb.4,p.E203fs	protein_coding	uc003lkd.2	frameshift deletion	exon1	c.609delG	p.E203fs	NPELVLERALDREEEAAHHLVLTAS	NPELVLERALDREKRLLTTWSSRPRMAASRLALAQCAST	2.0	1.0	unscreened	-	3879_5:140772989-140772989 G>-_NPELVLERALDREKRLLTTWSSRPRMAASRLALAQCAST
12:9317901-9317901 C>T	0.0	3879	MELANOMA	-	-	-	-	PZP	uc009zgm.1,p.G106E|NM_002864,p.G774E|ENST00000381997,p.G643E|uc001qvl.3,p.G774E|uc009zgl.3,p.G643E|ENST00000261336,p.G774E	protein_coding, processed_transcript, nonsense_mediated_decay	uc009zgm.1	nonsynonymous SNV	exon5	c.G317A	p.G106E	VTVPDTITEWKAGAFCLSEDAGLGI	VTVPDTITEWKAEAFCLSEDAGLGI	5.0	4.0	unscreened	-	3879_12:9317901-9317901 C>T_VTVPDTITEWKAEAFCLSEDAGLGI
X:50054041-50054041 A>C	0.0	3879	MELANOMA	-	-	-	-	CCNB3	ENST00000376042,p.K958Q|uc004dox.4,p.K958Q|uc004doy.3,p.K958Q|ENST00000276014,p.K958Q|NM_033031,p.K958Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004doy.3	nonsynonymous SNV	exon5	c.A2872C	p.K958Q	KEPLALQESPTYKEDTFLKTLLVPQ	KEPLALQESPTYQEDTFLKTLLVPQ	1.0	10.0	unscreened	-	3879_X:50054041-50054041 A>C_KEPLALQESPTYQEDTFLKTLLVPQ
14:78392237-78392237 T>C	1.0	3879	MELANOMA	-	-	-	-	ADCK1	ENST00000341211,p.M312T|uc001xuj.3,p.M312T|NM_020421,p.M380T|NM_001142545,p.M312T|uc001xul.3,p.M87T|ENST00000238561,p.M380T|uc001xui.3,p.M380T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xul.3	nonsynonymous SNV	exon2	c.T260C	p.M87T	LGAGDLYPLFACMLTARSWDSVNRG	LGAGDLYPLFACTLTARSWDSVNRG	5.0	5.0	-	-	3879_14:78392237-78392237 T>C_LGAGDLYPLFACTLTARSWDSVNRG
11:4944969-4944969 C>T	0.0	3879	MELANOMA	-	-	-	-	OR51G1	NM_001005237,p.G201R|uc010qyr.2,p.G201R|ENST00000321961,p.G201R	protein_coding	uc010qyr.2	nonsynonymous SNV	exon1	c.G601A	p.G201R	LACSSIIVNHIYGLFVVACTVGVDS	LACSSIIVNHIYRLFVVACTVGVDS	1.0	9.0	unscreened	-	3879_11:4944969-4944969 C>T_LACSSIIVNHIYRLFVVACTVGVDS
X:5811568-5811568 G>A	1.0	3879	MELANOMA	-	-	-	-	NLGN4X	ENST00000381092,p.H581Y|ENST00000538097,p.H581Y|uc010ndj.3,p.H581Y|ENST00000381095,p.H581Y|uc004crr.3,p.H581Y|NM_181332,p.H581Y|uc010ndh.3,p.H581Y|uc010ndi.3,p.H618Y|uc004crq.3,p.H581Y|uc004crp.3,p.H601Y|ENST00000381093,p.H601Y|NM_001282145,p.H581Y|NM_020742,p.H581Y|NM_001282146,p.H581Y|ENST00000275857,p.H581Y	protein_coding, processed_transcript	uc010ndj.3	nonsynonymous SNV	exon7	c.C1741T	p.H581Y	YLHIGLKPRVRDHYRATKVAFWLEL	YLHIGLKPRVRDYYRATKVAFWLEL	2.0	10.0	unscreened	-	3879_X:5811568-5811568 G>A_YLHIGLKPRVRDYYRATKVAFWLEL
16:85133815-85133815 C>T	0.0	3879	MELANOMA	-	-	-	-	FAM92B	NM_198491,p.G228E|uc021tma.1,p.G228E|ENST00000539556,p.G228E	protein_coding	uc021tma.1	nonsynonymous SNV	exon8	c.G683A	p.G228E	LLDFRAKMQGVYGHYDTRLLANTSP	LLDFRAKMQGVYEHYDTRLLANTSP	1.0	5.0	unscreened	-	3879_16:85133815-85133815 C>T_LLDFRAKMQGVYEHYDTRLLANTSP
X:111097276-111097276 G>A	0.0	3879	MELANOMA	-	-	-	-	TRPC5	ENST00000262839,p.P320L|NM_012471,p.P320L|uc004epm.1,p.P320L|uc004epl.1,p.P320L	protein_coding	uc004epm.1	nonsynonymous SNV	exon4	c.C959T	p.P320L	QQLLATLWYDGFPGWRRKHWVVKLL	QQLLATLWYDGFLGWRRKHWVVKLL	1.0	10.0	unscreened	-	3879_X:111097276-111097276 G>A_QQLLATLWYDGFLGWRRKHWVVKLL
11:6867377-6867377 C>T	0.0	3879	MELANOMA	-	-	-	-	OR10A5	NM_178168,p.P155L|ENST00000379831,p.P159L|ENST00000299454,p.P155L|uc001met.1,p.P155L	protein_coding	uc001met.1	nonsynonymous SNV	exon1	c.C464T	p.P155L	AKLAAASWFPGFPVATVQTTWLFSF	AKLAAASWFPGFLVATVQTTWLFSF	1.0	10.0	unscreened	-	3879_11:6867377-6867377 C>T_AKLAAASWFPGFLVATVQTTWLFSF
17:72324606-72324606 G>A	0.0	3879	MELANOMA	-	-	-	-	KIF19	uc002jkl.2,p.E28K|uc002jkj.2,p.E28K|ENST00000551294,p.E28K|NM_153209,p.E28K|uc002jkm.4,p.E28K|ENST00000389916,p.E28K|uc002jkk.2,p.E28K	retained_intron, protein_coding	uc002jkm.4	nonsynonymous SNV	exon2	c.G82A	p.E28K	LRVRPISVAELEEGATLIAHKVDEQ	LRVRPISVAELEKGATLIAHKVDEQ	1.0	3.0	unscreened	-	3879_17:72324606-72324606 G>A_LRVRPISVAELEKGATLIAHKVDEQ
12:112326792-112326792 C>T	1.0	3879	MELANOMA	-	-	-	-	MAPKAPK5	NM_139078,p.L402F|ENST00000551404,p.L402F|uc001tta.4,p.L402F|ENST00000549875,p.L253F	retained_intron, protein_coding, processed_transcript	uc001tta.4	nonsynonymous SNV	exon12	c.C1204T	p.L402F	LEKLRDVIAQCILPQAGKGENEDEK	LEKLRDVIAQCIFPQAGKGENEDEK	9.0	9.0	-	-	3879_12:112326792-112326792 C>T_LEKLRDVIAQCIFPQAGKGENEDEK
5:157053706-157053706 G>A	0.0	3879	MELANOMA	-	-	-	-	SOX30	ENST00000265007,p.P635L|uc011dds.1,p.P330L|ENST00000519442,p.P330L|NM_178424,p.P635L|uc003lxb.1,p.P635L	protein_coding	uc011dds.1	nonsynonymous SNV	exon6	c.C989T	p.P330L	YFPSSTCPYSRPPFGYGNFPSSMPE	YFPSSTCPYSRPLFGYGNFPSSMPE	1.0	2.0	unscreened	-	3879_5:157053706-157053706 G>A_YFPSSTCPYSRPLFGYGNFPSSMPE
16:23721868-23721868 G>A	0.0	3879	MELANOMA	-	-	ID=COSM106881;OCCURENCE=1(skin)	-	ERN2	uc010bxp.3,p.P116S|ENST00000256797,p.P116S|uc002dma.4,p.P116S|NM_033266,p.P116S|ENST00000562562,p.P68S|ENST00000457008,p.P68S	retained_intron, protein_coding, nonsense_mediated_decay	uc010bxp.3	nonsynonymous SNV	exon3	c.C346T	p.P116S	QTGDLKWTLRDDPVIEGPMYVTEMA	QTGDLKWTLRDDSVIEGPMYVTEMA	1.0	6.0	unscreened	-	3879_16:23721868-23721868 G>A_QTGDLKWTLRDDSVIEGPMYVTEMA
10:26785305-26785305 T>C	0.0	3879	MELANOMA	-	-	-	-	APBB1IP	uc001isr.3,p.F49L|ENST00000356785,p.F49L|ENST00000376236,p.F49L|NM_019043,p.F49L|uc009xks.1,p.F49L|uc001iss.3,p.F49L	protein_coding, processed_transcript, nonsense_mediated_decay	uc009xks.1	nonsynonymous SNV	exon4	c.T145C	p.F49L	NPPRAEFNYSVGFKDLNESLNALED	NPPRAEFNYSVGLKDLNESLNALED	2.0	6.0	unscreened	-	3879_10:26785305-26785305 T>C_NPPRAEFNYSVGLKDLNESLNALED
11:20623164-20623164 G>A	0.0	3879	MELANOMA	-	-	-	-	SLC6A5	NM_004211,p.G165R|uc001mqd.3,p.G165R|ENST00000525748,p.G165R|ENST00000298923,p.G165R	protein_coding, processed_transcript, nonsense_mediated_decay	uc001mqd.3	nonsynonymous SNV	exon2	c.G493A	p.G165R	NMSQSTVVLATDGITSVLPGSVATV	NMSQSTVVLATDRITSVLPGSVATV	1.0	9.0	unscreened	-	3879_11:20623164-20623164 G>A_NMSQSTVVLATDRITSVLPGSVATV
14:92537386-92537388 TTT>-	0.0	3879	MELANOMA	-	-	ID=COSM1477849;OCCURENCE=2(NS),1(breast)	-	ATXN3	uc021rzj.1,p.12_12del|NM_001164782,p.12_12del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021rzj.1	nonframeshift deletion	exon2	c.34_36del	p.12_12del	MESIFHEKTAAKAATAAAAAAAGG	MESIFHEKTAAAATAAAAAAAGGP	8.0	1.0	unscreened	-	3879_14:92537386-92537388 TTT>-_MESIFHEKTAAAATAAAAAAAGGP
2:107049668-107049668 C>T	0.0	3879	MELANOMA	-	-	-	2	RGPD3	ENST00000304514,p.G760E|uc010ywi.1,p.G760E|NM_001144013,p.G760E|ENST00000409886,p.G760E	retained_intron, protein_coding	uc010ywi.1	nonsynonymous SNV	exon16	c.G2279A	p.G760E	KSVMQELENYSEGGPLYKNGSLRNA	KSVMQELENYSEEGPLYKNGSLRNA	4.0	1.0	unscreened	-	3879_2:107049668-107049668 C>T_KSVMQELENYSEEGPLYKNGSLRNA
6:31896575-31896575 C>T	0.0	3879	MELANOMA	-	-	-	-	C2	uc011doq.2,p.P79L|ENST00000299367,p.P108L|NM_001282458,p.P79L|uc003nyf.3,p.P108L|uc003nye.4,p.P108L|ENST00000418949,p.P108L|NM_001282459,p.P108L|ENST00000413154,p.P108L|ENST00000477310,p.P108L|NM_000063,p.P108L	retained_intron, protein_coding, nonsense_mediated_decay,protein_coding, processed_transcript	uc011doq.2	nonsynonymous SNV	exon3	c.C236T	p.P79L	ENGIYTPRLGSYPVGGNVSFECEDG	ENGIYTPRLGSYLVGGNVSFECEDG	1.0	1.0	unscreened	-	3879_6:31896575-31896575 C>T_ENGIYTPRLGSYLVGGNVSFECEDG
4:41664931-41664931 C>T	1.0	3879	MELANOMA	-	-	ID=COSM177426,COSM177427;OCCURENCE=1(large_intestine)	-	LIMCH1	uc003gwe.4,p.S689L|uc003gvv.4,p.S689L|ENST00000511496,p.S530L|uc003gvy.4,p.S518L|uc003gvz.4,p.S1074L|ENST00000313860,p.S689L|NM_001289124,p.S518L|uc011byu.2,p.S523L|ENST00000509277,p.S523L|ENST00000508501,p.S689L|uc003gvx.4,p.S677L|NM_001112718,p.S689L|uc003gvu.4,p.S689L|ENST00000512632,p.S689L|ENST00000381753,p.S523L|uc003gwa.4,p.S530L|ENST00000396595,p.S535L|NM_014988,p.S689L|ENST00000513024,p.S518L|ENST00000512820,p.S677L|ENST00000512946,p.S689L|ENST00000503057,p.S1074L|NM_001112720,p.S523L|ENST00000514096,p.S530L|uc011byv.2,p.S440L|NM_001289122,p.S677L|NM_001112719,p.S535L|uc003gvw.4,p.S689L|NM_001112717,p.S689L|uc003gwc.4,p.S535L|uc003gwd.4,p.S523L	protein_coding, processed_transcript	uc011byv.2	nonsynonymous SNV	exon9	c.C1319T	p.S440L	EFPSSPQLKNDVSEEKDQKKPENEM	EFPSSPQLKNDVLEEKDQKKPENEM	7.0	2.0	-	-	3879_4:41664931-41664931 C>T_EFPSSPQLKNDVLEEKDQKKPENEM
7:37951820-37951820 G>A	0.0	3879	MELANOMA	-	-	-	1	SFRP4	ENST00000436072,p.P231L|ENST00000447200,p.P97L|uc003tfo.4,p.P231L|NM_003014,p.P231L	retained_intron, protein_coding	uc003tfo.4	nonsynonymous SNV	exon4	c.C692T	p.P231L	DVKEIFKSSSPIPRTQVPLITNSSC	DVKEIFKSSSPILRTQVPLITNSSC	2.0	8.0	unscreened	-	3879_7:37951820-37951820 G>A_DVKEIFKSSSPILRTQVPLITNSSC
16:49670170-49670170 C>T	0.0	3879	MELANOMA	-	-	-	-	ZNF423	ENST00000567169,p.G848S|uc031qwe.1,p.G905S|ENST00000563137,p.G905S|uc031qwd.1,p.G965S|NM_015069,p.G965S|ENST00000535559,p.G848S|ENST00000562871,p.G905S|ENST00000562520,p.G905S|ENST00000262383,p.G965S|NM_001271620,p.G905S|ENST00000561648,p.G965S|uc010vgn.3,p.G848S	retained_intron, protein_coding	uc031qwe.1	nonsynonymous SNV	exon4	c.G2713A	p.G905S	RGPAKHYMCPICGERFPSLLTLTEH	RGPAKHYMCPICSERFPSLLTLTEH	2.0	7.0	unscreened	-	3879_16:49670170-49670170 C>T_RGPAKHYMCPICSERFPSLLTLTEH
9:134350745-134350745 C>T	1.0	3879	MELANOMA	-	-	-	-	PRRC2B	NM_013318,p.R1077C|ENST00000357304,p.R1077C|uc004cao.4,p.R435C|uc004can.4,p.R1077C|uc010mzj.1,p.R660C	protein_coding, processed_transcript	uc010mzj.1	nonsynonymous SNV	exon8	c.C1978T	p.R660C	RGRGRGFREFTFRGRPAGGNGSGLC	RGRGRGFREFTFCGRPAGGNGSGLC	9.0	10.0	-	-	3879_9:134350745-134350745 C>T_RGRGRGFREFTFCGRPAGGNGSGLC
1:153409604-153409604 A>C	0.0	3879	MELANOMA	-	-	-	-	S100A7L2	NM_001045479,p.L90R|ENST00000368725,p.L90R|uc010pdx.2,p.L90R	protein_coding	uc010pdx.2	nonsynonymous SNV	exon3	c.T269G	p.L90R	DKKVNYSEFLSLLGDITIDHHKIMH	DKKVNYSEFLSLRGDITIDHHKIMH	1.0	9.0	unscreened	-	3879_1:153409604-153409604 A>C_DKKVNYSEFLSLRGDITIDHHKIMH
1:184765079-184765079 C>T	0.0	3879	MELANOMA	-	-	-	-	FAM129A	uc001grb.1,p.G370R	protein_coding, processed_transcript	uc001grb.1	nonsynonymous SNV	exon9	c.G1108A	p.G370R	ASPARRASAILPGVLGSETLSNESF	ASPARRASAILPRVLGSETLSNESF	3.0	1.0	unscreened	-	3879_1:184765079-184765079 C>T_ASPARRASAILPRVLGSETLSNESF
14:92537386-92537388 TTT>-	0.0	3879	MELANOMA	-	-	ID=COSM1477849;OCCURENCE=2(NS),1(breast)	-	ATXN3	NM_001164778,p.133_133del|uc021rza.1,p.133_133del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021rza.1	nonframeshift deletion	exon6	c.397_399del	p.133_133del	FTVRKLGKQTAAKAATAAAAAAAGG	FTVRKLGKQTAAAATAAAAAAAGGP	8.0	1.0	unscreened	-	3879_14:92537386-92537388 TTT>-_FTVRKLGKQTAAAATAAAAAAAGGP
1:23724357-23724357 G>A	1.0	3879	MELANOMA	-	-	-	-	TCEA3	uc021oig.1,p.P179S|uc021oih.1,p.P158S|ENST00000450454,p.P179S|NM_003196,p.P179S	protein_coding, processed_transcript	uc021oih.1	nonsynonymous SNV	exon5	c.C472T	p.P158S	TPTFASSMCLLAPCYLTGDSVRDKC	TPTFASSMCLLASCYLTGDSVRDKC	4.0	6.0	unscreened	-	3879_1:23724357-23724357 G>A_TPTFASSMCLLASCYLTGDSVRDKC
14:92537386-92537388 TTT>-	0.0	3879	MELANOMA	-	-	ID=COSM1477849;OCCURENCE=2(NS),1(breast)	-	ATXN3	uc021rzf.1,p.27_27del|NM_001164776,p.82_82del|uc021rzd.1,p.82_82del|NM_001164777,p.27_27del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021rzf.1	nonframeshift deletion	exon3	c.79_81del	p.27_27del	DDSGFFSIQTAAKAATAAAAAAAGG	DDSGFFSIQTAAAATAAAAAAAGGP	8.0	1.0	unscreened	-	3879_14:92537386-92537388 TTT>-_DDSGFFSIQTAAAATAAAAAAAGGP
1:184765079-184765079 C>T	0.0	3879	MELANOMA	-	-	-	-	FAM129A	ENST00000367511,p.G607R|uc001gra.4,p.G607R|NM_052966,p.G607R	protein_coding, processed_transcript	uc001gra.4	nonsynonymous SNV	exon14	c.G1819A	p.G607R	ASPARRASAILPGVLGSETLSNEVF	ASPARRASAILPRVLGSETLSNEVF	3.0	1.0	unscreened	-	3879_1:184765079-184765079 C>T_ASPARRASAILPRVLGSETLSNEVF
17:27380036-27380036 C>T	0.0	3879	MELANOMA	-	-	-	-	PIPOX	NM_016518,p.S121L|ENST00000469082,p.S55L|ENST00000466889,p.S55L|ENST00000323372,p.S121L|uc002hdr.1,p.S121L	protein_coding, processed_transcript	uc002hdr.1	nonsynonymous SNV	exon3	c.C362T	p.S121L	NLSRQRVEHQCLSSEELKQRFPNIR	NLSRQRVEHQCLLSEELKQRFPNIR	2.0	9.0	unscreened	-	3879_17:27380036-27380036 C>T_NLSRQRVEHQCLLSEELKQRFPNIR
1:29435945-29435945 C>T	1.0	3879	MELANOMA	-	-	-	-	EPB41	uc001brl.2,p.T771I|uc001brg.2,p.T581I|NM_203342,p.T581I|ENST00000356093,p.T771I|uc001bri.2,p.T715I|uc021okg.1,p.T750I|ENST00000347529,p.T715I|ENST00000373798,p.T804I|uc001brm.2,p.T804I|ENST00000349460,p.T581I|ENST00000343067,p.T804I|uc009vtm.2,p.T383I|NM_001166007,p.T541I|uc001brj.2,p.T541I|ENST00000398863,p.T707I|NM_203343,p.T715I|NM_001166005,p.T804I|uc009vtl.2,p.T498I	protein_coding, processed_transcript	uc021okg.1	nonsynonymous SNV	exon14	c.C2249T	p.T750I	SETPSSTTTTQITKTVKGGISETRI	SETPSSTTTTQIIKTVKGGISETRI	7.0	3.0	-	-	3879_1:29435945-29435945 C>T_SETPSSTTTTQIIKTVKGGISETRI
1:63282323-63282323 C>T	1.0	3879	MELANOMA	-	-	ID=COSM1474132,COSM1474133;OCCURENCE=1(breast)	-	ATG4C	ENST00000371118,p.R80C|NM_032852,p.R80C|ENST00000371120,p.R80C|NM_178221,p.R80C|ENST00000443289,p.R80C|uc001dau.3,p.R80C|ENST00000317868,p.R80C|uc001dat.3,p.R80C	protein_coding	uc001dau.3	nonsynonymous SNV	exon4	c.C238T	p.R80C	EDHVIAGNVEEFRKDFISRIWLTYR	EDHVIAGNVEEFCKDFISRIWLTYR	6.0	3.0	-	-	3879_1:63282323-63282323 C>T_EDHVIAGNVEEFCKDFISRIWLTYR
3:16216914-16216914 C>T	0.0	3879	MELANOMA	-	-	-	-	GALNT15	NM_054110,p.P86S|uc003car.4,p.P86S|ENST00000437509,p.P86S|ENST00000339732,p.P86S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003car.4	nonsynonymous SNV	exon1	c.C256T	p.P86S	EGEEYSPLEGLPPFISLREDQLLVA	EGEEYSPLEGLPSFISLREDQLLVA	4.0	10.0	unscreened	-	3879_3:16216914-16216914 C>T_EGEEYSPLEGLPSFISLREDQLLVA
2:211179708-211179708 G>A	0.0	3879	MELANOMA	-	-	-	-	MYL1	uc002vec.3,p.P20L|ENST00000352451,p.P20L|NM_079420,p.P20L	protein_coding, processed_transcript	uc002vec.3	nonsynonymous SNV	exon1	c.C59T	p.P20L	KKPVAAAAAAPAPAPAPAPAPAPAK	KKPVAAAAAAPALAPAPAPAPAPAK	1.0	8.0	unscreened	-	3879_2:211179708-211179708 G>A_KKPVAAAAAAPALAPAPAPAPAPAK
5:115348087-115348087 G>A	0.0	3879	MELANOMA	-	-	-	-	AQPEP	NM_173800,p.R755K|ENST00000357872,p.R755K|uc003kro.3,p.R755K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003kro.3	nonsynonymous SNV	exon15	c.G2264A	p.R755K	DIYSLLKRYLLKRLNLIWNIYSTII	DIYSLLKRYLLKKLNLIWNIYSTII	2.0	2.0	unscreened	-	3879_5:115348087-115348087 G>A_DIYSLLKRYLLKKLNLIWNIYSTII
13:111164287-111164287 G>A	0.0	3879	MELANOMA	-	-	-	-	COL4A2	uc001vqx.3,p.A1630T|ENST00000360467,p.A1630T|NM_001846,p.A1630T	protein_coding, processed_transcript	uc001vqx.3	nonsynonymous SNV	exon48	c.G4888A	p.A1630T	SLWIGYSFLMHTAAGDEGGGQSLVS	SLWIGYSFLMHTTAGDEGGGQSLVS	8.0	2.0	unscreened	-	3879_13:111164287-111164287 G>A_SLWIGYSFLMHTTAGDEGGGQSLVS
2:54176394-54176394 A>G	1.0	3879	MELANOMA	-	-	-	-	PSME4	uc021vho.1,p.F90S|ENST00000404125,p.F90S|NM_014614,p.F90S|uc002rxp.2,p.F90S|ENST00000389993,p.F90S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vho.1	nonsynonymous SNV	exon2	c.T269C	p.F90S	KLSTYIRLYGRKFSKEDHVLFIKLL	KLSTYIRLYGRKSSKEDHVLFIKLL	9.0	9.0	-	-	3879_2:54176394-54176394 A>G_KLSTYIRLYGRKSSKEDHVLFIKLL
1:158436215-158436215 G>A	0.0	3879	MELANOMA	-	-	ID=COSM1688851;OCCURENCE=1(skin)	-	OR10K1	ENST00000289451,p.M288I|NM_001004473,p.M288I|uc010pij.2,p.M288I	protein_coding	uc010pij.2	nonsynonymous SNV	exon1	c.G864A	p.M288I	VSYTILTPLFNPMIYSLRNKEFKSA	VSYTILTPLFNPIIYSLRNKEFKSA	1.0	8.0	unscreened	-	3879_1:158436215-158436215 G>A_VSYTILTPLFNPIIYSLRNKEFKSA
22:39440155-39440155 C>T	0.0	3879	MELANOMA	-	-	-	-	APOBEC3F	NM_001006666,p.P80L|uc003awv.3,p.P80L|ENST00000381565,p.P80L	retained_intron, protein_coding, processed_transcript	uc003awv.3	nonsynonymous SNV	exon3	c.C239T	p.P80L	QVLSSPFGQCAPPHGTAQVQWPPQL	QVLSSPFGQCAPLHGTAQVQWPPQL	5.0	9.0	unscreened	-	3879_22:39440155-39440155 C>T_QVLSSPFGQCAPLHGTAQVQWPPQL
5:140262830-140262830 G>A	0.0	3879	MELANOMA	-	-	-	-	PCDHA13	ENST00000289272,p.G326E|uc003lid.3,p.G326E|uc003lie.1,p.G326E|NM_031865,p.G326E|uc003lif.2,p.G326E|NM_018904,p.G326E|ENST00000409494,p.G326E	protein_coding	uc003lif.2	nonsynonymous SNV	exon1	c.G977A	p.G326E	KLYEISVEAVDKGNIPMAGHCTLLV	KLYEISVEAVDKENIPMAGHCTLLV	1.0	3.0	unscreened	-	3879_5:140262830-140262830 G>A_KLYEISVEAVDKENIPMAGHCTLLV
10:103649225-103649225 G>A	1.0	3879	MELANOMA	-	-	-	-	C10orf76	ENST00000370033,p.P602S|uc009xwy.1,p.P602S|NM_024541,p.P602S	protein_coding, processed_transcript	uc009xwy.1	nonsynonymous SNV	exon24	c.C1804T	p.P602S	LVNIRAIINHFNPKIESYAAVNHIS	LVNIRAIINHFNSKIESYAAVNHIS	5.0	7.0	-	-	3879_10:103649225-103649225 G>A_LVNIRAIINHFNSKIESYAAVNHIS
5:10290667-10290667 C>T	0.0	3879	MELANOMA	-	-	-	-	CMBL	ENST00000296658,p.G70R|NM_138809,p.G70R|uc003jes.3,p.G70R	retained_intron, protein_coding, processed_transcript	uc003jes.3	nonsynonymous SNV	exon2	c.G208A	p.G70R	NTRYIADMISGNGYTTIVPDFFVGQ	NTRYIADMISGNRYTTIVPDFFVGQ	1.0	3.0	unscreened	-	3879_5:10290667-10290667 C>T_NTRYIADMISGNRYTTIVPDFFVGQ
12:103352438-103352438 C>T	0.0	3879	MELANOMA	-	-	-	-	ASCL1	NM_004316,p.A139V|uc021rcu.1,p.A139V|ENST00000266744,p.A139V|uc001tjr.4,p.A139V	protein_coding	uc021rcu.1	nonsynonymous SNV	exon1	c.C416T	p.A139V	ERNRVKLVNLGFATLREHVPNGAAN	ERNRVKLVNLGFVTLREHVPNGAAN	1.0	4.0	unscreened	-	3879_12:103352438-103352438 C>T_ERNRVKLVNLGFVTLREHVPNGAAN
1:173502930-173502930 T>C	0.0	3879	MELANOMA	-	-	-	-	SLC9C2	uc001giz.2,p.I661V|NM_178527,p.I661V|uc009wwe.2,p.I219V|ENST00000367714,p.I661V	protein_coding, processed_transcript	uc009wwe.2	nonsynonymous SNV	exon10	c.A655G	p.I219V	FLYVLESTLKIIILKRKYFQQCWNT	FLYVLESTLKIIVLKRKYFQQCWNT	2.0	1.0	unscreened	-	3879_1:173502930-173502930 T>C_FLYVLESTLKIIVLKRKYFQQCWNT
2:30955312-30955312 G>A	0.0	3879	MELANOMA	-	-	-	-	CAPN13	ENST00000534090,p.A640V|ENST00000295055,p.A640V|uc021vfn.1,p.A640V|NM_144575,p.A640V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vfn.1	nonsynonymous SNV	exon19	c.C1919T	p.A640V	FPSLVCFLMRLEAMAKTFRNLSKDG	FPSLVCFLMRLEVMAKTFRNLSKDG	1.0	2.0	unscreened	-	3879_2:30955312-30955312 G>A_FPSLVCFLMRLEVMAKTFRNLSKDG
10:28225785-28225785 C>T	0.0	3879	MELANOMA	-	-	-	-	ARMC4	NM_001290020,p.D708N|uc010qds.2,p.D233N|uc001itz.3,p.D708N|ENST00000305242,p.D708N|ENST00000545014,p.D233N|NM_001290021,p.D233N|uc009xky.3,p.D708N|NM_018076,p.D708N|ENST00000537576,p.D400N|uc010qdt.2,p.D400N	protein_coding, processed_transcript	uc010qdt.2	nonsynonymous SNV	exon10	c.G1198A	p.D400N	AIYQCAEDKETRDLVRLHGGLKPLA	AIYQCAEDKETRNLVRLHGGLKPLA	1.0	6.0	unscreened	-	3879_10:28225785-28225785 C>T_AIYQCAEDKETRNLVRLHGGLKPLA
5:79025580-79025580 C>T	0.0	3879	MELANOMA	-	-	-	-	CMYA5	uc003kgc.3,p.P331L|ENST00000446378,p.P331L|NM_153610,p.P331L	retained_intron, protein_coding, processed_transcript	uc003kgc.3	nonsynonymous SNV	exon2	c.C992T	p.P331L	SHEDQKKIYADSPLNATSALEHTVP	SHEDQKKIYADSLLNATSALEHTVP	2.0	8.0	unscreened	-	3879_5:79025580-79025580 C>T_SHEDQKKIYADSLLNATSALEHTVP
X:153698843-153698843 G>A	1.0	3879	MELANOMA	-	-	-	-	PLXNA3	ENST00000369682,p.R1682Q|uc004flm.3,p.R1682Q|NM_017514,p.R1682Q	retained_intron, protein_coding, processed_transcript	uc004flm.3	nonsynonymous SNV	exon30	c.G5045A	p.R1682Q	DDLFETVFSTAHRGSALPLAIKYMF	DDLFETVFSTAHQGSALPLAIKYMF	4.0	10.0	-	-	3879_X:153698843-153698843 G>A_DDLFETVFSTAHQGSALPLAIKYMF
2:234622103-234622103 C>T	0.0	3879	MELANOMA	-	-	-	-	UGT1A5	ENST00000373414,p.L156F|uc002vuw.3,p.L156F|NM_019078,p.L156F|uc010zmz.1,p.L156F	protein_coding	uc010zmz.1	nonsynonymous SNV	exon1	c.C466T	p.L156F	TSFDVVLTDPFHLCAAVLAKYLSIP	TSFDVVLTDPFHFCAAVLAKYLSIP	1.0	7.0	unscreened	-	3879_2:234622103-234622103 C>T_TSFDVVLTDPFHFCAAVLAKYLSIP
12:57348690-57348690 C>T	0.0	3879	MELANOMA	-	-	-	-	RDH16	ENST00000398138,p.R191K|uc001smi.4,p.R191K|NM_003708,p.R191K	protein_coding, processed_transcript	uc001smi.4	nonsynonymous SNV	exon2	c.G572A	p.R191K	SKYGVEAFSDSLRRELSYFGVKVAM	SKYGVEAFSDSLKRELSYFGVKVAM	1.0	2.0	unscreened	-	3879_12:57348690-57348690 C>T_SKYGVEAFSDSLKRELSYFGVKVAM
10:102509533-102509533 G>A	0.0	3879	MELANOMA	-	-	-	-	PAX2	uc001krp.1,p.G29E|ENST00000554172,p.G29E	retained_intron, protein_coding, nonsense_mediated_decay	uc001krp.1	nonsynonymous SNV	exon1	c.G86A	p.G29E	SPAGHGGVNQLGGVFVNGRPLPDVV	SPAGHGGVNQLGEVFVNGRPLPDVV	1.0	4.0	unscreened	-	3879_10:102509533-102509533 G>A_SPAGHGGVNQLGEVFVNGRPLPDVV
10:102509533-102509533 G>A	0.0	3879	MELANOMA	-	-	-	-	PAX2	uc010qps.2,p.G24E|ENST00000556085,p.G24E	retained_intron, protein_coding, nonsense_mediated_decay	uc010qps.2	nonsynonymous SNV	exon2	c.G71A	p.G24E	AMHRHGGVNQLGGVFVNGRPLPDVV	AMHRHGGVNQLGEVFVNGRPLPDVV	1.0	4.0	unscreened	-	3879_10:102509533-102509533 G>A_AMHRHGGVNQLGEVFVNGRPLPDVV
10:102509533-102509533 G>A	0.0	3879	MELANOMA	-	-	-	-	PAX2	uc001krl.4,p.G25E|ENST00000427256,p.G25E|ENST00000361791,p.G25E|uc001krm.4,p.G25E|ENST00000370296,p.G25E|NM_000278,p.G25E|uc001krk.4,p.G25E|NM_003990,p.G25E|NM_003989,p.G25E|ENST00000428433,p.G25E|ENST00000355243,p.G25E|uc001krn.4,p.G25E|NM_003987,p.G25E|NM_003988,p.G25E|uc001kro.4,p.G25E	retained_intron, protein_coding, nonsense_mediated_decay	uc001kro.4	nonsynonymous SNV	exon2	c.G74A	p.G25E	MHPGHGGVNQLGGVFVNGRPLPDVV	MHPGHGGVNQLGEVFVNGRPLPDVV	1.0	4.0	unscreened	-	3879_10:102509533-102509533 G>A_MHPGHGGVNQLGEVFVNGRPLPDVV
20:56099075-56099075 C>T	0.0	3879	MELANOMA	-	-	-	-	CTCFL	ENST00000433949,p.E63K|NM_001269045,p.E63K|uc010gja.2,p.E63K|NM_001269048,p.E63K|uc010gjb.2,p.E63K|uc010gjc.1,p.E63K|uc031ruj.1,p.E63K|ENST00000422109,p.E63K|ENST00000429804,p.E63K|ENST00000423479,p.E63K|uc010gje.3,p.E63K|NM_001269040,p.E63K|ENST00000243914,p.E63K|ENST00000426658,p.E63K|ENST00000371196,p.E63K|NM_080618,p.E63K|uc021wfe.1,p.E63K|uc010gjk.2,p.E63K|uc010gjl.2,p.E63K|ENST00000422869,p.E63K|uc010gix.1,p.E63K|NM_001269052,p.E63K|NM_001269041,p.E63K|NM_001269046,p.E63K|ENST00000432255,p.E63K|NM_001269042,p.E63K|uc031ruh.1,p.E63K|uc010gjh.2,p.E63K|NM_001269044,p.E63K|uc010gjj.2,p.E63K|NM_001269047,p.E63K|NM_001269043,p.E63K|uc010giw.1,p.E63K|uc010gjd.1,p.E63K|NM_001269051,p.E63K	protein_coding, processed_transcript	uc031ruj.1	nonsynonymous SNV	exon2	c.G187A	p.E63K	RTSGAFQDSVLEEEVELVLAPSEES	RTSGAFQDSVLEKEVELVLAPSEES	1.0	7.0	unscreened	-	3879_20:56099075-56099075 C>T_RTSGAFQDSVLEKEVELVLAPSEES
5:157053708-157053708 A>T	0.0	3879	MELANOMA	-	-	-	-	SOX30	uc003lxc.1,p.L470H|NM_007017,p.L470H|ENST00000311371,p.L470H	protein_coding	uc003lxc.1	nonsynonymous SNV	exon4	c.T1409A	p.L470H	ITHPVVHALTVGLPLAMEIFRVQCQ	ITHPVVHALTVGHPLAMEIFRVQCQ	1.0	2.0	unscreened	-	3879_5:157053708-157053708 A>T_ITHPVVHALTVGHPLAMEIFRVQCQ
X:37642831-37642831 C>A	0.0	3879	MELANOMA	-	-	-	-	CYBB	uc011mkf.1,p.S45Y|NM_000397,p.S77Y|uc004ddr.2,p.S77Y|ENST00000378588,p.S77Y|ENST00000545017,p.S45Y	protein_coding, processed_transcript	uc011mkf.1	nonsynonymous SNV	exon2	c.C134A	p.S45Y	MLILLPVCRNLLSFLRGSSACCSTR	MLILLPVCRNLLYFLRGSSACCSTR	3.0	10.0	unscreened	-	3879_X:37642831-37642831 C>A_MLILLPVCRNLLYFLRGSSACCSTR
5:127625606-127625606 C>T	0.0	3879	MELANOMA	-	-	-	-	FBN2	ENST00000262464,p.G2160E|uc003kuu.3,p.G2160E|ENST00000508053,p.G2160E|NM_001999,p.G2160E	retained_intron, protein_coding, processed_transcript	uc003kuu.3	nonsynonymous SNV	exon51	c.G6479A	p.G2160E	EVAFQDLCPYGHGTVPSLHDTREDV	EVAFQDLCPYGHETVPSLHDTREDV	1.0	1.0	unscreened	-	3879_5:127625606-127625606 C>T_EVAFQDLCPYGHETVPSLHDTREDV
X:118675376-118675376 A>G	1.0	3879	MELANOMA	-	-	-	-	CXorf56	uc004erk.2,p.V174A|uc004erj.2,p.V125A|ENST00000486230,p.V174A|NM_001170569,p.V125A|NM_022101,p.V174A|ENST00000371594,p.V174A|ENST00000320339,p.V125A|ENST00000476164,p.V174A|uc011mtu.2,p.V160A|ENST00000536133,p.V160A|NM_001170570,p.V160A	protein_coding, processed_transcript	uc011mtu.2	nonsynonymous SNV	exon5	c.T479C	p.V160A	IDEEEEEIEAREVADSYAQNAKVIE	IDEEEEEIEAREAADSYAQNAKVIE	7.0	10.0	-	-	3879_X:118675376-118675376 A>G_IDEEEEEIEAREAADSYAQNAKVIE
5:140181362-140181362 C>T	1.0	3879	MELANOMA	-	-	-	-	PCDHA3	ENST00000532566,p.L194F|NM_031497,p.L194F|uc011czz.2,p.L194F|NM_018906,p.L194F|ENST00000522353,p.L194F|uc003lhf.2,p.L194F	protein_coding	uc011czz.2	nonsynonymous SNV	exon1	c.C580T	p.L194F	VKRNDEEIKSLGLVLKKNLNREDTP	VKRNDEEIKSLGFVLKKNLNREDTP	2.0	6.0	-	-	3879_5:140181362-140181362 C>T_VKRNDEEIKSLGFVLKKNLNREDTP
12:71532000-71532000 C>T	0.0	3879	MELANOMA	-	-	-	-	TSPAN8	NM_004616,p.G91D|uc001swj.1,p.G91D|ENST00000393330,p.G91D|uc009zrt.1,p.G91D|ENST00000546561,p.G91D|ENST00000247829,p.G91D|uc001swk.1,p.G91D	retained_intron, protein_coding, processed_transcript	uc009zrt.1	nonsynonymous SNV	exon4	c.G272A	p.G91D	KESRCMLLLFFIGLLLILLLQVATG	KESRCMLLLFFIDLLLILLLQVATG	1.0	6.0	unscreened	-	3879_12:71532000-71532000 C>T_KESRCMLLLFFIDLLLILLLQVATG
6:29394557-29394557 G>A	0.0	3879	MELANOMA	-	-	-	-	OR11A1	ENST00000377148,p.P288S|ENST00000377149,p.P288S|uc003nmg.3,p.P288S|ENST00000377147,p.P288S|NM_013937,p.P288S	protein_coding	uc003nmg.3	nonsynonymous SNV	exon1	c.C862T	p.P288S	SLLYTVVTPLFNPVIYTMRNKEVHQ	SLLYTVVTPLFNSVIYTMRNKEVHQ	1.0	9.0	unscreened	-	3879_6:29394557-29394557 G>A_SLLYTVVTPLFNSVIYTMRNKEVHQ
20:2384325-2384325 G>A	0.0	3879	MELANOMA	-	-	-	-	TGM6	NM_198994,p.D398N|uc010gal.1,p.D398N|ENST00000202625,p.D398N|uc002wfy.1,p.D398N|NM_001254734,p.D398N|ENST00000381423,p.D398N	protein_coding, processed_transcript	uc010gal.1	nonsynonymous SNV	exon9	c.G1192A	p.D398N	HDGPFVFAEVNADYITWLWHEDESR	HDGPFVFAEVNANYITWLWHEDESR	1.0	8.0	unscreened	-	3879_20:2384325-2384325 G>A_HDGPFVFAEVNANYITWLWHEDESR
1:39987206-39987206 G>A	1.0	3879	MELANOMA	-	-	-	-	BMP8A	ENST00000331593,p.E278K|uc001cdi.3,p.E278K|NM_181809,p.E278K	protein_coding	uc001cdi.3	nonsynonymous SNV	exon4	c.G832A	p.E278K	RPLRRRQPKKSNELPQANRLPGIFD	RPLRRRQPKKSNKLPQANRLPGIFD	5.0	1.0	-	-	3879_1:39987206-39987206 G>A_RPLRRRQPKKSNKLPQANRLPGIFD
1:176564464-176564464 C>T	0.0	3879	MELANOMA	-	-	-	-	PAPPA2	NM_021936,p.S575F|uc001gkz.3,p.S575F|ENST00000367662,p.S575F|uc001gky.1,p.S575F|ENST00000367661,p.S575F|NM_020318,p.S575F	protein_coding, processed_transcript	uc001gkz.3	nonsynonymous SNV	exon3	c.C1724T	p.S575F	ISWQLSVHQVHNSTLRHRVVLVNCE	ISWQLSVHQVHNFTLRHRVVLVNCE	1.0	1.0	unscreened	-	3879_1:176564464-176564464 C>T_ISWQLSVHQVHNFTLRHRVVLVNCE
8:3072115-3072115 C>T	0.0	3879	MELANOMA	-	-	-	-	CSMD1	NM_033225,p.D1591N|uc022aqr.1,p.D1591N|ENST00000400186,p.D1592N|ENST00000602723,p.D1592N|ENST00000539096,p.D1591N|ENST00000537824,p.D1591N|uc011kwj.2,p.D984N|ENST00000602557,p.D1592N|ENST00000520002,p.D1592N|uc003wqe.3,p.D748N|ENST00000542608,p.D1591N	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon30	c.G4771A	p.D1591N	DFKLGSTITYQCDSGYKILDPSSIT	DFKLGSTITYQCNSGYKILDPSSIT	1.0	9.0	unscreened	-	3879_8:3072115-3072115 C>T_DFKLGSTITYQCNSGYKILDPSSIT
5:35763641-35763641 G>A	0.0	3879	MELANOMA	-	-	-	-	SPEF2	uc003jjp.1,p.R699Q|uc003jjo.3,p.R1213Q|NM_024867,p.R1213Q|ENST00000440995,p.R1208Q|ENST00000356031,p.R1213Q	retained_intron, protein_coding, nonsense_mediated_decay	uc003jjp.1	nonsynonymous SNV	exon16	c.G2096A	p.R699Q	NSESQLRIPLVPRISISLETVTPKP	NSESQLRIPLVPQISISLETVTPKP	5.0	3.0	unscreened	-	3879_5:35763641-35763641 G>A_NSESQLRIPLVPQISISLETVTPKP
6:130530727-130530727 G>A	0.0	3879	MELANOMA	-	-	-	-	SAMD3	ENST00000437477,p.P99L|ENST00000368134,p.P99L|NM_001017373,p.P99L|uc010kfg.2,p.P99L|uc031spp.1,p.P123L|ENST00000531544,p.P99L|uc003qbw.4,p.P99L|ENST00000324172,p.P99L|ENST00000529723,p.P97L|ENST00000532309,p.P99L|NM_001258275,p.P99L|ENST00000439090,p.P99L|ENST00000457563,p.P123L|uc003qbz.1,p.P58L|uc003qby.4,p.P99L|uc003qbx.4,p.P99L|NM_001277185,p.P123L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031spp.1	nonsynonymous SNV	exon4	c.C368T	p.P123L	AARDYRDEESSSPARHGEQMPSFYP	AARDYRDEESSSLARHGEQMPSFYP	1.0	9.0	unscreened	-	3879_6:130530727-130530727 G>A_AARDYRDEESSSLARHGEQMPSFYP
3:46244852-46244852 C>T	0.0	3879	MELANOMA	-	-	-	-	CCR1	uc021wwy.1,p.R318K|NM_001295,p.R318K|uc003cph.1,p.R318K|ENST00000296140,p.R318K	protein_coding	uc021wwy.1	nonsynonymous SNV	exon1	c.G953A	p.R318K	ERFRKYLRQLFHRRVAVHLVKWLPF	ERFRKYLRQLFHKRVAVHLVKWLPF	1.0	9.0	unscreened	-	3879_3:46244852-46244852 C>T_ERFRKYLRQLFHKRVAVHLVKWLPF
16:31476214-31476214 T>C	0.0	3879	MELANOMA	-	-	-	-	ARMC5	uc002eca.4,p.F624L|NM_024742,p.F624L|ENST00000457010,p.F624L	retained_intron, protein_coding, nonsense_mediated_decay	uc002eca.4	nonsynonymous SNV	exon4	c.T1870C	p.F624L	PTLHSRHRELGEFPYPPVSLPPCES	PTLHSRHRELGELPYPPVSLPPCES	2.0	4.0	unscreened	-	3879_16:31476214-31476214 T>C_PTLHSRHRELGELPYPPVSLPPCES
8:37732033-37732033 C>T	1.0	3879	MELANOMA	-	-	-	-	RAB11FIP1	NM_001002814,p.R541Q|uc003xkm.2,p.R541Q|ENST00000330843,p.R541Q	retained_intron, protein_coding, processed_transcript	uc003xkm.2	nonsynonymous SNV	exon3	c.G1622A	p.R541Q	SPRAPQTRAVKPRLEVSPEAQPTAR	SPRAPQTRAVKPQLEVSPEAQPTAR	7.0	5.0	-	-	3879_8:37732033-37732033 C>T_SPRAPQTRAVKPQLEVSPEAQPTAR
19:15198097-15198097 C>T	0.0	3879	MELANOMA	-	-	ID=COSM1711928;OCCURENCE=1(skin)	-	OR1I1	uc010xoe.2,p.S74F|NM_001004713,p.S74F|ENST00000209540,p.S74F	protein_coding	uc010xoe.2	nonsynonymous SNV	exon1	c.C221T	p.S74F	FLFNLSLVDTLLSSTTVPKMLANIQ	FLFNLSLVDTLLFSTTVPKMLANIQ	1.0	6.0	unscreened	-	3879_19:15198097-15198097 C>T_FLFNLSLVDTLLFSTTVPKMLANIQ
2:99008422-99008422 G>A	0.0	3879	MELANOMA	-	-	-	-	CNGA3	NM_001079878,p.R203Q|ENST00000393504,p.R221Q|NM_001298,p.R221Q|ENST00000436404,p.R203Q|ENST00000409937,p.R225Q|uc002syt.3,p.R221Q|ENST00000272602,p.R221Q|uc002syu.3,p.R203Q|uc010fij.3,p.R225Q	retained_intron, protein_coding	uc010fij.3	nonsynonymous SNV	exon7	c.G674A	p.R225Q	SADVLYVLDVLVRARTGFLEQGLMV	SADVLYVLDVLVQARTGFLEQGLMV	1.0	6.0	unscreened	-	3879_2:99008422-99008422 G>A_SADVLYVLDVLVQARTGFLEQGLMV
1:190195373-190195373 G>A	0.0	3879	MELANOMA	-	-	ID=COSM1689452;OCCURENCE=1(skin)	-	BRINP3	ENST00000367462,p.S267L|NM_199051,p.S267L|uc001gse.1,p.S267L|ENST00000534846,p.S165L|uc010pot.1,p.S165L	protein_coding, processed_transcript	uc010pot.1	nonsynonymous SNV	exon5	c.C494T	p.S165L	FVQAALSYIACNSEGEFICKENDCW	FVQAALSYIACNLEGEFICKENDCW	1.0	1.0	unscreened	-	3879_1:190195373-190195373 G>A_FVQAALSYIACNLEGEFICKENDCW
17:534807-534807 G>A	1.0	3879	MELANOMA	-	-	-	-	VPS53	ENST00000389040,p.P224S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000389040	nonsynonymous SNV	exon8	c.C670T	p.P224S	GQQILADFEEAFPSQGTKVAWLDKI	GQQILADFEEAFSSQGTKVAWLDKI	8.0	9.0	-	-	3879_17:534807-534807 G>A_GQQILADFEEAFSSQGTKVAWLDKI
4:89653322-89653322 T>C	1.0	3879	MELANOMA	-	-	-	-	FAM13A	NM_001265578,p.S552G|ENST00000503556,p.S552G|NM_014883,p.S892G|NM_001015045,p.S566G|ENST00000511976,p.S478G|NM_001265580,p.S538G|ENST00000508369,p.S566G|uc003hsb.2,p.S566G|uc003hsf.2,p.S478G|uc003hsc.2,p.S552G|uc011cdq.2,p.S538G|uc003hse.2,p.S892G|ENST00000264344,p.S892G|ENST00000513837,p.S538G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cdq.2	nonsynonymous SNV	exon14	c.A1612G	p.S538G	EIKEEEEGSEDDSNVKPDFMVTLKT	EIKEEEEGSEDDGNVKPDFMVTLKT	8.0	7.0	-	-	3879_4:89653322-89653322 T>C_EIKEEEEGSEDDGNVKPDFMVTLKT
4:89653322-89653322 T>C	1.0	3879	MELANOMA	-	-	-	-	FAM13A	uc003hsd.2,p.S538G|ENST00000395002,p.S538G|uc003hsa.2,p.S335G|NM_001265579,p.S538G|uc003hsg.2,p.S335G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003hsg.2	nonsynonymous SNV	exon14	c.A1003G	p.S335G	PIIEEEEGSEDDSNVKPDFMVTLKT	PIIEEEEGSEDDGNVKPDFMVTLKT	8.0	7.0	unscreened	-	3879_4:89653322-89653322 T>C_PIIEEEEGSEDDGNVKPDFMVTLKT
8:110455301-110455301 C>T	0.0	3879	MELANOMA	-	-	-	-	PKHD1L1	ENST00000378402,p.P1507L|uc003yne.3,p.P1507L|NM_177531,p.P1507L	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon36	c.C4520T	p.P1507L	VINVLPAETRHIPLHLFVGRSEATY	VINVLPAETRHILLHLFVGRSEATY	1.0	6.0	unscreened	-	3879_8:110455301-110455301 C>T_VINVLPAETRHILLHLFVGRSEATY
3:55003834-55003834 C>T	0.0	3879	MELANOMA	-	-	-	-	CACNA2D3	ENST00000474759,p.S840F|uc003dhg.1,p.S746F|ENST00000490478,p.S746F|NM_018398,p.S840F|uc003dhf.3,p.S840F|ENST00000415676,p.S840F|ENST00000288197,p.S840F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003dhg.1	nonsynonymous SNV	exon28	c.C2237T	p.S746F	QRKFWTASRQCASLDGKCSISCDDE	QRKFWTASRQCAFLDGKCSISCDDE	1.0	10.0	unscreened	-	3879_3:55003834-55003834 C>T_QRKFWTASRQCAFLDGKCSISCDDE
16:57974215-57974215 C>T	0.0	3879	MELANOMA	-	-	-	-	CNGB1	uc010cdh.2,p.D372N|NM_001286130,p.D372N|ENST00000251102,p.D378N|NM_001297,p.D378N|ENST00000564448,p.D372N|uc002emt.2,p.D378N	retained_intron, protein_coding, processed_transcript	uc010cdh.2	nonsynonymous SNV	exon15	c.G1114A	p.D372N	EEEEEEVTEVLLDSCVVSQVGVGQS	EEEEEEVTEVLLNSCVVSQVGVGQS	1.0	1.0	unscreened	-	3879_16:57974215-57974215 C>T_EEEEEEVTEVLLNSCVVSQVGVGQS
11:67410244-67410244 G>A	0.0	3879	MELANOMA	-	-	-	-	ACY3	uc001omq.3,p.T304I|ENST00000529256,p.T183I|ENST00000255082,p.T304I|NM_080658,p.T304I	protein_coding	uc001omq.3	nonsynonymous SNV	exon8	c.C911T	p.T304I	GVAFVQTEKFTFTVPAMPALTPAPS	GVAFVQTEKFTFIVPAMPALTPAPS	1.0	7.0	unscreened	-	3879_11:67410244-67410244 G>A_GVAFVQTEKFTFIVPAMPALTPAPS
1:32263899-32263899 C>T	0.0	3879	MELANOMA	-	-	-	-	SPOCD1	uc001btv.3,p.G178E|ENST00000452755,p.G122E|uc001bts.1,p.G685E|NM_001281987,p.G685E|ENST00000257100,p.G178E|NM_144569,p.G685E|ENST00000360482,p.G685E|NM_001281988,p.G178E|ENST00000533231,p.G685E|uc001btu.3,p.G685E	retained_intron, protein_coding	uc001btv.3	nonsynonymous SNV	exon8	c.G533A	p.G178E	PRNLDLFLKVVHGDVTPYDLVRMSS	PRNLDLFLKVVHEDVTPYDLVRMSS	3.0	4.0	unscreened	-	3879_1:32263899-32263899 C>T_PRNLDLFLKVVHEDVTPYDLVRMSS
1:32263899-32263899 C>T	0.0	3879	MELANOMA	-	-	-	-	SPOCD1	uc001btw.1,p.G29E	retained_intron, protein_coding	uc001btw.1	nonsynonymous SNV	exon1	c.G86A	p.G29E	CPHQDLFLKVVHGDVTPYDLVRMSS	CPHQDLFLKVVHEDVTPYDLVRMSS	3.0	4.0	unscreened	-	3879_1:32263899-32263899 C>T_CPHQDLFLKVVHEDVTPYDLVRMSS
15:57731027-57731027 C>T	0.0	3879	MELANOMA	-	-	-	-	CGNL1	NM_032866,p.P277L|NM_001252335,p.P277L|uc002aeg.3,p.P277L|uc010bfw.3,p.P277L|ENST00000281282,p.P277L	protein_coding, processed_transcript	uc010bfw.3	nonsynonymous SNV	exon3	c.C830T	p.P277L	HPETKKTRPDVLPFRRQDSAGPVLD	HPETKKTRPDVLLFRRQDSAGPVLD	1.0	10.0	unscreened	-	3879_15:57731027-57731027 C>T_HPETKKTRPDVLLFRRQDSAGPVLD
13:113333740-113333740 C>T	0.0	3879	MELANOMA	-	-	-	-	ATP11AUN	ENST00000356049,p.S16F|NM_207440,p.S16F|uc001vsh.1,p.S16F	protein_coding	uc001vsh.1	nonsynonymous SNV	exon2	c.C47T	p.S16F	PEARLCVAQCRDSYPGCQPLKDTRA	PEARLCVAQCRDFYPGCQPLKDTRA	1.0	2.0	unscreened	-	3879_13:113333740-113333740 C>T_PEARLCVAQCRDFYPGCQPLKDTRA
19:49207132-49207132 G>A	0.0	3879	MELANOMA	-	-	-	-	FUT2	uc021uwx.1,p.A307T|ENST00000391876,p.A307T|uc002pke.4,p.A307T|NM_000511,p.A307T|ENST00000425340,p.A307T|uc010emc.3,p.A307T|NM_001097638,p.A307T	protein_coding, processed_transcript	uc021uwx.1	nonsynonymous SNV	exon1	c.G919A	p.A307T	AAYLTGGDTIYLANYTLPDSPFLKI	AAYLTGGDTIYLTNYTLPDSPFLKI	1.0	4.0	unscreened	-	3879_19:49207132-49207132 G>A_AAYLTGGDTIYLTNYTLPDSPFLKI
7:21745115-21745115 C>T	0.0	3879	MELANOMA	-	-	-	-	DNAH11	NM_001277115,p.S2169L|uc031swq.1,p.S366L|ENST00000409508,p.S2169L|uc031swp.1,p.S2169L|ENST00000328843,p.S2176L	retained_intron, protein_coding, processed_transcript	uc031swq.1	nonsynonymous SNV	exon39	c.C1097T	p.S366L	VVQLEELLAVRHSVFVVGNAGTGKS	VVQLEELLAVRHLVFVVGNAGTGKS	1.0	3.0	unscreened	-	3879_7:21745115-21745115 C>T_VVQLEELLAVRHLVFVVGNAGTGKS
5:176018272-176018272 G>A	0.0	3879	MELANOMA	-	-	-	-	CDHR2	uc021yie.1,p.V1201M|NM_001171976,p.V1201M|ENST00000261944,p.V1201M|NM_017675,p.V1201M|ENST00000506348,p.V1201M|ENST00000510636,p.V1201M|uc003men.1,p.V1201M|uc003mem.2,p.V1201M	retained_intron, protein_coding, nonsense_mediated_decay	uc021yie.1	nonsynonymous SNV	exon29	c.G3601A	p.V1201M	KAAKEARKTAAGVMPSAPAIPGTNM	KAAKEARKTAAGMMPSAPAIPGTNM	1.0	2.0	unscreened	-	3879_5:176018272-176018272 G>A_KAAKEARKTAAGMMPSAPAIPGTNM
2:103274293-103274293 C>T	0.0	3879	MELANOMA	-	-	-	-	SLC9A2	uc002tca.3,p.S187F|NM_003048,p.S187F|ENST00000233969,p.S187F	retained_intron, protein_coding, processed_transcript	uc002tca.3	nonsynonymous SNV	exon2	c.C560T	p.S187F	VGTLWNSIGIGVSLFGICQIEAFGL	VGTLWNSIGIGVFLFGICQIEAFGL	1.0	4.0	unscreened	-	3879_2:103274293-103274293 C>T_VGTLWNSIGIGVFLFGICQIEAFGL
4:74864050-74864050 G>A	0.0	3879	MELANOMA	-	-	-	-	CXCL5	uc003hhk.4,p.P39S|NM_002994,p.P39S|ENST00000296027,p.P39S	protein_coding	uc003hhk.4	nonsynonymous SNV	exon2	c.C115T	p.P39S	LLTQPGPIASAGPAAAVLRELRCVC	LLTQPGPIASAGSAAAVLRELRCVC	1.0	2.0	unscreened	-	3879_4:74864050-74864050 G>A_LLTQPGPIASAGSAAAVLRELRCVC
8:62289186-62289186 C>T	0.0	3879	MELANOMA	-	-	-	-	CLVS1	NM_173519,p.R160C|ENST00000325897,p.R160C|uc003xuh.3,p.R160C|ENST00000519846,p.R160C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xuh.3	nonsynonymous SNV	exon3	c.C478T	p.R160C	WDQSRNSFTDILRAILLSLEVLIED	WDQSRNSFTDILCAILLSLEVLIED	1.0	4.0	unscreened	-	3879_8:62289186-62289186 C>T_WDQSRNSFTDILCAILLSLEVLIED
15:50535429-50535429 C>T	0.0	3879	MELANOMA	-	-	-	-	HDC	NM_002112,p.A385T|ENST00000267845,p.A385T|uc001zxz.3,p.A385T|uc001zxy.3,p.A128T	retained_intron, protein_coding	uc001zxz.3	nonsynonymous SNV	exon11	c.G1153A	p.A385T	NLQAHVRHGTEMAKYFESLVRNDPS	NLQAHVRHGTEMTKYFESLVRNDPS	1.0	9.0	unscreened	-	3879_15:50535429-50535429 C>T_NLQAHVRHGTEMTKYFESLVRNDPS
8:106815108-106815108 C>T	0.0	3879	MELANOMA	-	-	-	-	ZFPM2	ENST00000378472,p.S664L|ENST00000407775,p.S933L|uc011lhs.2,p.S664L|ENST00000520492,p.S801L|NM_012082,p.S933L|uc003ymd.3,p.S933L|ENST00000517361,p.S801L	protein_coding, processed_transcript	uc011lhs.2	nonsynonymous SNV	exon6	c.C1991T	p.S664L	NLKQPSPNGNLFSSHLATLQGLKVF	NLKQPSPNGNLFLSHLATLQGLKVF	2.0	8.0	unscreened	-	3879_8:106815108-106815108 C>T_NLKQPSPNGNLFLSHLATLQGLKVF
1:248756342-248756342 G>A	0.0	3879	MELANOMA	-	-	ID=COSM1502138;OCCURENCE=1(lung)	-	OR2T10	NM_001004693,p.S243F|uc010pzn.2,p.S243F|ENST00000330500,p.S243F	protein_coding	uc010pzn.2	nonsynonymous SNV	exon1	c.C728T	p.S243F	VEGRKKAFTTCSSHITVVSLFYGAA	VEGRKKAFTTCSFHITVVSLFYGAA	1.0	1.0	unscreened	-	3879_1:248756342-248756342 G>A_VEGRKKAFTTCSFHITVVSLFYGAA
3:190127742-190127742 G>A	0.0	3879	MELANOMA	-	-	-	-	CLDN16	uc003fsi.3,p.A279T|NM_006580,p.A279T|ENST00000264734,p.A279T	protein_coding, processed_transcript	uc003fsi.3	nonsynonymous SNV	exon5	c.G835A	p.A279T	RNYPYSLRKAYSAAGVSMAKSYSAP	RNYPYSLRKAYSTAGVSMAKSYSAP	1.0	10.0	unscreened	-	3879_3:190127742-190127742 G>A_RNYPYSLRKAYSTAGVSMAKSYSAP
2:196681468-196681468 A>T	0.0	3879	MELANOMA	-	-	-	-	DNAH7	ENST00000312428,p.F3215L|NM_018897,p.F3215L|uc002utj.4,p.F3215L	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon51	c.T9645A	p.F3215L	YRPIAIHSSILFFSLADLANIEPMY	YRPIAIHSSILFLSLADLANIEPMY	1.0	3.0	unscreened	-	3879_2:196681468-196681468 A>T_YRPIAIHSSILFLSLADLANIEPMY
20:42788583-42788583 C>T	0.0	3879	MELANOMA	-	-	-	-	JPH2	ENST00000372980,p.D282N|uc002xli.1,p.D282N|NM_020433,p.D282N	protein_coding	uc002xli.1	nonsynonymous SNV	exon2	c.G844A	p.D282N	AEGADEAAPFEADIDATTTETYMGE	AEGADEAAPFEANIDATTTETYMGE	1.0	8.0	unscreened	-	3879_20:42788583-42788583 C>T_AEGADEAAPFEANIDATTTETYMGE
19:51645996-51645996 C>T	0.0	3879	MELANOMA	-	-	ID=COSM223999;OCCURENCE=3(skin)	-	SIGLEC7	ENST00000601682,p.R124C|uc010eor.1,p.R124C|NM_014385,p.R124C|uc002pvv.1,p.R124C|ENST00000536156,p.R124C|ENST00000305628,p.R124C|NM_016543,p.R124C|uc002pvw.1,p.R124C|NM_001277201,p.R124C|ENST00000600577,p.R124C|ENST00000317643,p.R124C	retained_intron, protein_coding, nonsense_mediated_decay	uc010eor.1	nonsynonymous SNV	exon1	c.C370T	p.R124C	DARMSDAGRYFFRMEKGNIKWNYKY	DARMSDAGRYFFCMEKGNIKWNYKY	2.0	6.0	unscreened	-	3879_19:51645996-51645996 C>T_DARMSDAGRYFFCMEKGNIKWNYKY
3:65372880-65372880 G>A	0.0	3879	MELANOMA	-	-	-	-	MAGI1	uc003dmm.3,p.S813L|uc010hnx.1,p.S96L|uc003dmo.3,p.S813L|NM_004742,p.S813L|NM_015520,p.S813L|ENST00000330909,p.S813L|ENST00000463103,p.S688L|ENST00000483466,p.S813L	retained_intron, protein_coding, processed_transcript	uc010hnx.1	nonsynonymous SNV	exon3	c.C287T	p.S96L	MYENRPMSPSPASGLSKGEREREIN	MYENRPMSPSPALGLSKGEREREIN	4.0	10.0	unscreened	-	3879_3:65372880-65372880 G>A_MYENRPMSPSPALGLSKGEREREIN
10:70987098-70987098 T>G	0.0	3879	MELANOMA	-	-	-	-	HKDC1	ENST00000354624,p.F67V|NM_025130,p.F67V|ENST00000395086,p.F67V|uc001jpf.4,p.F67V	protein_coding, processed_transcript	uc001jpf.4	nonsynonymous SNV	exon2	c.T199G	p.F67V	TNPTAAVKMLPTFVRAIPDGSENGE	TNPTAAVKMLPTVVRAIPDGSENGE	4.0	8.0	unscreened	-	3879_10:70987098-70987098 T>G_TNPTAAVKMLPTVVRAIPDGSENGE
8:37732033-37732033 C>T	1.0	3879	MELANOMA	-	-	-	-	RAB11FIP1	uc003xkn.2,p.R541Q|ENST00000287263,p.R541Q|uc003xkp.1,p.R389Q|ENST00000522727,p.R393Q|ENST00000524118,p.R393Q|NM_025151,p.R541Q	retained_intron, protein_coding, processed_transcript	uc003xkp.1	nonsynonymous SNV	exon2	c.G1166A	p.R389Q	SPRAPQTRAVKPRLHPVKPMNAMAT	SPRAPQTRAVKPQLHPVKPMNAMAT	7.0	5.0	-	-	3879_8:37732033-37732033 C>T_SPRAPQTRAVKPQLHPVKPMNAMAT
4:1165829-1165829 C>T	0.0	3879	MELANOMA	-	-	-	-	SPON2	ENST00000502483,p.G11S|uc003gco.4,p.G11S|uc021xkj.1,p.G11S|NM_001128325,p.G11S|NM_012445,p.G11S|ENST00000431380,p.G11S|ENST00000515004,p.G11S|ENST00000503765,p.G11S|ENST00000290902,p.G11S|uc010ibr.3,p.G11S|NM_001199021,p.G11S|ENST00000514490,p.G11S	retained_intron, protein_coding, processed_transcript	uc021xkj.1	nonsynonymous SNV	exon4	c.G31A	p.G11S	MENPSPAAALGKALCALLLATLG	MENPSPAAALSKALCALLLATLG	5.0	7.0	unscreened	-	3879_4:1165829-1165829 C>T_MENPSPAAALSKALCALLLATLG
11:125853928-125853928 G>A	1.0	3879	MELANOMA	-	-	-	-	CDON	ENST00000392693,p.S945F|uc009zbw.3,p.S945F|uc001qdb.4,p.S322F|NM_016952,p.S945F|ENST00000531738,p.S322F|NM_001243597,p.S945F|uc001qdc.4,p.S945F|ENST00000263577,p.S945F	retained_intron, protein_coding, nonsense_mediated_decay	uc009zbw.3	nonsynonymous SNV	exon16	c.C2834T	p.S945F	EYPVKDLSTPPNSLGSGGNVGPATS	EYPVKDLSTPPNFLGSGGNVGPATS	8.0	9.0	-	-	3879_11:125853928-125853928 G>A_EYPVKDLSTPPNFLGSGGNVGPATS
11:101937350-101937350 G>A	0.0	3879	MELANOMA	-	-	-	-	C11orf70	ENST00000526781,p.D135N|NM_032930,p.D135N|uc001pgq.3,p.D97N|uc001pgp.3,p.D135N|ENST00000434758,p.D135N	retained_intron, protein_coding	uc001pgq.3	nonsynonymous SNV	exon3	c.G289A	p.D97N	SGHIVKCLDSFCDPFLISDELRRVL	SGHIVKCLDSFCNPFLISDELRRVL	1.0	10.0	unscreened	-	3879_11:101937350-101937350 G>A_SGHIVKCLDSFCNPFLISDELRRVL
X:106845381-106845381 C>T	0.0	3879	MELANOMA	-	-	-	-	FRMPD3	ENST00000276185,p.S1404L|NM_032428,p.S1404L|ENST00000439554,p.S1352L|uc022cce.1,p.S460L	protein_coding, processed_transcript	uc022cce.1	nonsynonymous SNV	exon1	c.C1379T	p.S460L	SRECRSDPESGVSCLTTCASGGECL	SRECRSDPESGVLCLTTCASGGECL	1.0	10.0	unscreened	-	3879_X:106845381-106845381 C>T_SRECRSDPESGVLCLTTCASGGECL
3:58410576-58410576 G>A	1.0	3879	MELANOMA	-	-	-	-	PXK	uc003dkc.1,p.G536S|NM_001289095,p.G536S|ENST00000479241,p.G536S	retained_intron, protein_coding, nonsense_mediated_decay	uc003dkc.1	nonsynonymous SNV	exon18	c.G1606A	p.G536S	CEHRGTCPALVSGCEWHEPRGLAQL	CEHRGTCPALVSSCEWHEPRGLAQL	8.0	10.0	-	-	3879_3:58410576-58410576 G>A_CEHRGTCPALVSSCEWHEPRGLAQL
5:167882389-167882389 C>T	0.0	3879	MELANOMA	-	-	-	-	WWC1	uc010jjf.1,p.P168L|uc003lzw.3,p.P695L|uc011den.2,p.P896L|uc003lzv.3,p.P896L|ENST00000524038,p.P222L|ENST00000521089,p.P896L|NM_015238,p.P896L|NM_001161662,p.P896L|ENST00000265293,p.P896L|NM_001161661,p.P896L|uc003lzu.3,p.P896L	retained_intron, protein_coding, processed_transcript, TEC	uc011den.2	nonsynonymous SNV	exon19	c.C2687T	p.P896L	ALKVDKETNTETPAPSPTVVRPKDR	ALKVDKETNTETLAPSPTVVRPKDR	3.0	2.0	unscreened	-	3879_5:167882389-167882389 C>T_ALKVDKETNTETLAPSPTVVRPKDR
19:40363907-40363907 A>G	0.0	3879	MELANOMA	-	-	-	-	FCGBP	NM_003890,p.V4912A|uc002omp.4,p.V4912A|ENST00000221347,p.V4912A	protein_coding, processed_transcript	uc002omp.4	nonsynonymous SNV	exon31	c.T14735C	p.V4912A	EKNAAGDLQRLLVTVAGQVVSLAQG	EKNAAGDLQRLLATVAGQVVSLAQG	1.0	2.0	unscreened	-	3879_19:40363907-40363907 A>G_EKNAAGDLQRLLATVAGQVVSLAQG
14:70634259-70634259 G>A	0.0	3879	MELANOMA	-	-	ID=COSM1707511,COSM1707512;OCCURENCE=1(skin)	-	SLC8A3	ENST00000528359,p.S294F|NM_058240,p.S294F|NM_182932,p.S294F|ENST00000357887,p.S294F|uc001xly.3,p.S294F|NM_183002,p.S294F|NM_033262,p.S294F|ENST00000381269,p.S294F|uc001xlz.3,p.S294F|ENST00000494208,p.S294F|ENST00000534137,p.S294F|uc001xlx.3,p.S294F|ENST00000356921,p.S294F|uc001xlw.3,p.S294F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001xlz.3	nonsynonymous SNV	exon2	c.C881T	p.S294F	PKGIEMDGKMMNSHFLDGNLVPLEG	PKGIEMDGKMMNFHFLDGNLVPLEG	1.0	5.0	unscreened	-	3879_14:70634259-70634259 G>A_PKGIEMDGKMMNFHFLDGNLVPLEG
3:38949582-38949582 G>A	0.0	3879	MELANOMA	-	-	-	-	SCN11A	uc021wvy.1,p.S444L|NM_014139,p.S444L|ENST00000444237,p.S444L|NM_001287223,p.S444L|ENST00000450244,p.S444L|ENST00000302328,p.S444L|ENST00000456224,p.S444L	protein_coding	uc021wvy.1	nonsynonymous SNV	exon10	c.C1331T	p.S444L	KEALVAMGIDRSSLTSLETSYFTPK	KEALVAMGIDRSLLTSLETSYFTPK	1.0	9.0	unscreened	-	3879_3:38949582-38949582 G>A_KEALVAMGIDRSLLTSLETSYFTPK
11:5905799-5905799 G>A	0.0	3879	MELANOMA	-	-	-	-	OR52E4	ENST00000316987,p.E93K|NM_001005165,p.E93K|uc010qzs.2,p.E93K	protein_coding	uc010qzs.2	nonsynonymous SNV	exon1	c.G277A	p.E93K	PKMLGIFWFNLQEISFGGCLLQMFF	PKMLGIFWFNLQKISFGGCLLQMFF	1.0	10.0	unscreened	-	3879_11:5905799-5905799 G>A_PKMLGIFWFNLQKISFGGCLLQMFF
1:184764716-184764716 G>A	0.0	3879	MELANOMA	-	-	-	-	FAM129A	NM_052966,p.P728S|uc001gra.4,p.P728S|ENST00000367511,p.P728S	protein_coding, processed_transcript	uc001gra.4	nonsynonymous SNV	exon14	c.C2182T	p.P728S	LTASVEVPVDSAPVMEEDTNGESHV	LTASVEVPVDSASVMEEDTNGESHV	3.0	1.0	unscreened	-	3879_1:184764716-184764716 G>A_LTASVEVPVDSASVMEEDTNGESHV
7:120373030-120373030 G>A	0.0	3879	MELANOMA	-	-	-	-	KCND2	ENST00000331113,p.V397I|NM_012281,p.V397I|uc003vjj.1,p.V397I	retained_intron, protein_coding	uc003vjj.1	nonsynonymous SNV	exon2	c.G1189A	p.V397I	IFGSICSLSGVLVIALPVPVIVSNF	IFGSICSLSGVLIIALPVPVIVSNF	1.0	3.0	unscreened	-	3879_7:120373030-120373030 G>A_IFGSICSLSGVLIIALPVPVIVSNF
16:55719092-55719092 C>T	0.0	3879	MELANOMA	-	-	-	-	SLC6A2	NM_001172501,p.H228Y|uc002eif.3,p.H228Y|uc002eii.3,p.H123Y|NM_001043,p.H228Y|ENST00000568529,p.H228Y|NM_001172502,p.H123Y|ENST00000414754,p.H228Y|ENST00000379906,p.H228Y|ENST00000219833,p.H228Y|ENST00000568943,p.H228Y|uc002eig.3,p.H228Y|uc021tio.1,p.H228Y|ENST00000566163,p.H228Y|ENST00000561820,p.H228Y|ENST00000567238,p.H123Y|NM_001172504,p.H228Y	protein_coding	uc021tio.1	nonsynonymous SNV	exon4	c.C682T	p.H228Y	RGVLHLHESSGIHDIGLPQWQLLLC	RGVLHLHESSGIYDIGLPQWQLLLC	1.0	3.0	unscreened	-	3879_16:55719092-55719092 C>T_RGVLHLHESSGIYDIGLPQWQLLLC
6:70071149-70071149 G>A	0.0	3879	MELANOMA	-	-	-	-	BAI3	uc011dxx.2,p.M534I|ENST00000370598,p.M1328I|uc003pev.4,p.M1328I|ENST00000238918,p.M534I|NM_001704,p.M1328I|uc010kak.3,p.M1328I|ENST00000546190,p.M292I	protein_coding	uc011dxx.2	nonsynonymous SNV	exon13	c.G1602A	p.M534I	VNNQPSMKEESKMNIGMETLPHERL	VNNQPSMKEESKINIGMETLPHERL	1.0	2.0	unscreened	-	3879_6:70071149-70071149 G>A_VNNQPSMKEESKINIGMETLPHERL
11:78399230-78399230 G>A	0.0	3879	MELANOMA	-	-	-	-	TENM4	ENST00000530738,p.T174I|ENST00000278550,p.T1710I|uc001ozl.4,p.T1710I|NM_001098816,p.T1710I	retained_intron, protein_coding, processed_transcript	uc001ozl.4	nonsynonymous SNV	exon29	c.C5129T	p.T1710I	DSFGRLTNVTFPTGQVSSFRSDTDS	DSFGRLTNVTFPIGQVSSFRSDTDS	2.0	7.0	unscreened	-	3879_11:78399230-78399230 G>A_DSFGRLTNVTFPIGQVSSFRSDTDS
2:179613304-179613304 G>A	0.0	3879	MELANOMA	-	-	-	-	TTN	NM_133379,p.P4608L|uc002unb.3,p.P4608L|ENST00000360870,p.P4608L	retained_intron, protein_coding	uc002unb.3	nonsynonymous SNV	exon46	c.C13823T	p.P4608L	GQPEEAYFKIQHPADTENIVFDLKQ	GQPEEAYFKIQHLADTENIVFDLKQ	1.0	4.0	unscreened	-	3879_2:179613304-179613304 G>A_GQPEEAYFKIQHLADTENIVFDLKQ
10:50531855-50531855 C>T	0.0	3879	MELANOMA	-	-	-	-	C10orf71	uc021pqb.1,p.S422L|uc021pqa.2,p.S422L|NM_001135196,p.S422L|ENST00000374144,p.S422L|ENST00000323868,p.S422L	protein_coding, processed_transcript	uc021pqb.1	nonsynonymous SNV	exon1	c.C1265T	p.S422L	PLYTKHNPQEQFSENNALDLPVEPN	PLYTKHNPQEQFLENNALDLPVEPN	1.0	5.0	unscreened	-	3879_10:50531855-50531855 C>T_PLYTKHNPQEQFLENNALDLPVEPN
15:75310760-75310760 G>A	0.0	3879	MELANOMA	-	-	-	-	SCAMP5	NM_138967,p.G133S|uc002azm.2,p.G133S|ENST00000564779,p.G133S|ENST00000425597,p.G133S|NM_001178112,p.G133S|uc002azk.2,p.G133S|uc002azl.2,p.G133S|NM_001178111,p.G133S|ENST00000361900,p.G133S|uc010uly.2,p.G62S|ENST00000545456,p.G62S|ENST00000568081,p.G66S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uly.2	nonsynonymous SNV	exon5	c.G184A	p.G62S	IQAVGIPGWGVCGWIATISFFGTNI	IQAVGIPGWGVCSWIATISFFGTNI	2.0	7.0	unscreened	-	3879_15:75310760-75310760 G>A_IQAVGIPGWGVCSWIATISFFGTNI
6:144803432-144803432 G>A	1.0	3879	MELANOMA	-	-	-	-	UTRN	NM_007124,p.G1199S|uc003qkt.3,p.G1199S|ENST00000367545,p.G1199S	protein_coding, processed_transcript	uc003qkt.3	nonsynonymous SNV	exon26	c.G3595A	p.G1199S	DNIKLLAAKVPSGGQELTSELNVVL	DNIKLLAAKVPSSGQELTSELNVVL	10.0	5.0	-	-	3879_6:144803432-144803432 G>A_DNIKLLAAKVPSSGQELTSELNVVL
21:41561155-41561155 C>T	0.0	3879	MELANOMA	-	-	-	-	DSCAM	NM_001389,p.M789I|uc031rvr.1,p.M789I|uc002yyq.1,p.M789I|ENST00000404019,p.M541I|ENST00000400454,p.M789I|NM_001271534,p.M789I	protein_coding	uc031rvr.1	nonsynonymous SNV	exon12	c.G2367A	p.M789I	SKSMYLTVKIPAMITSYPNTTLATQ	SKSMYLTVKIPAIITSYPNTTLATQ	1.0	6.0	unscreened	-	3879_21:41561155-41561155 C>T_SKSMYLTVKIPAIITSYPNTTLATQ
22:37964583-37964583 G>A	0.0	3879	MELANOMA	-	-	-	-	CDC42EP1	NM_152243,p.G311E|uc003asz.4,p.G311E|ENST00000249014,p.G311E	protein_coding	uc003asz.4	nonsynonymous SNV	exon3	c.G932A	p.G311E	EVKSSPVGGGPRGPAGPALGRHWGA	EVKSSPVGGGPREPAGPALGRHWGA	4.0	9.0	unscreened	-	3879_22:37964583-37964583 G>A_EVKSSPVGGGPREPAGPALGRHWGA
1:175365796-175365796 C>T	0.0	3879	MELANOMA	-	-	-	-	TNR	NM_003285,p.G375E|ENST00000263525,p.G375E|ENST00000367674,p.G375E	protein_coding	NM_003285	nonsynonymous SNV	exon5	c.G1124A	p.G375E	ALGGLQLQQRVPGDWSGVTITELEP	ALGGLQLQQRVPEDWSGVTITELEP	1.0	8.0	unscreened	-	3879_1:175365796-175365796 C>T_ALGGLQLQQRVPEDWSGVTITELEP
5:90086735-90086735 C>T	0.0	3879	MELANOMA	-	-	-	-	GPR98	uc003kju.3,p.L4697F|ENST00000425867,p.L358F|uc003kjw.3,p.L358F|NM_032119,p.L4697F|ENST00000405460,p.L4697F	retained_intron, protein_coding, processed_transcript	uc003kjw.3	nonsynonymous SNV	exon6	c.C1072T	p.L358F	ELSSEFDITEDFLSTSGFFTIADGE	ELSSEFDITEDFFSTSGFFTIADGE	1.0	5.0	unscreened	-	3879_5:90086735-90086735 C>T_ELSSEFDITEDFFSTSGFFTIADGE
X:119410874-119410874 C>T	0.0	3879	MELANOMA	-	-	ID=COSM1114041;OCCURENCE=1(endometrium)	-	TMEM255A	NM_017938,p.E205K|uc004eso.4,p.E205K|ENST00000371369,p.E181K|ENST00000309720,p.E205K|NM_001104544,p.E181K|ENST00000371352,p.E41K|uc004esp.4,p.E181K	protein_coding, processed_transcript	uc004esp.4	nonsynonymous SNV	exon7	c.G541A	p.E181K	CGNRVEITGGYYEYIDVSSCQDIIH	CGNRVEITGGYYKYIDVSSCQDIIH	1.0	10.0	unscreened	-	3879_X:119410874-119410874 C>T_CGNRVEITGGYYKYIDVSSCQDIIH
22:29837538-29837538 G>A	0.0	3879	MELANOMA	-	-	-	-	RFPL1	ENST00000354373,p.M127I|uc003afn.3,p.M127I|NM_021026,p.M127I	protein_coding	uc003afn.3	nonsynonymous SNV	exon2	c.G381A	p.M127I	QMNPRMRKFQVDMTLDADTANNFLL	QMNPRMRKFQVDITLDADTANNFLL	1.0	2.0	unscreened	-	3879_22:29837538-29837538 G>A_QMNPRMRKFQVDITLDADTANNFLL
3:124237289-124237289 C>T	0.0	3879	MELANOMA	-	-	-	-	KALRN	uc003ehf.1,p.P1658S|NM_003947,p.P1658S|ENST00000240874,p.P1658S|ENST00000460856,p.P1649S|uc010hrv.1,p.P1649S|uc011bjy.1,p.P1649S	retained_intron, protein_coding, processed_transcript	uc011bjy.1	nonsynonymous SNV	exon34	c.C4945T	p.P1649S	NLVPRWHLGPGDPFSTYV	NLVPRWHLGPGDSFSTYV	5.0	9.0	unscreened	-	3879_3:124237289-124237289 C>T_NLVPRWHLGPGDSFSTYV
5:140788862-140788862 G>A	0.0	3879	MELANOMA	-	-	-	-	PCDHGB6	ENST00000520790,p.V365I|uc003lkj.2,p.V365I|uc003lki.1,p.V365I|NM_018926,p.V365I|NM_032100,p.V365I	protein_coding	uc003lkj.2	nonsynonymous SNV	exon1	c.G1093A	p.V365I	SDQILENSPPGMVVALFKTRDLDFG	SDQILENSPPGMIVALFKTRDLDFG	2.0	8.0	unscreened	-	3879_5:140788862-140788862 G>A_SDQILENSPPGMIVALFKTRDLDFG
1:173552686-173552686 C>T	0.0	3879	MELANOMA	-	-	-	-	SLC9C2	ENST00000367714,p.G200E|ENST00000536496,p.G98E|NM_178527,p.G200E|uc001giz.2,p.G200E	protein_coding, processed_transcript	uc001giz.2	nonsynonymous SNV	exon6	c.G599A	p.G200E	SLIICSIASIFFGNFRGNRIHFSIF	SLIICSIASIFFENFRGNRIHFSIF	2.0	9.0	unscreened	-	3879_1:173552686-173552686 C>T_SLIICSIASIFFENFRGNRIHFSIF
15:72037448-72037448 C>T	0.0	3879	MELANOMA	-	-	-	-	THSD4	uc002ate.2,p.S277L|NM_001286429,p.S277L|uc002atb.1,p.S637L|ENST00000261862,p.S637L|ENST00000357769,p.S277L|NM_024817,p.S637L|ENST00000355327,p.S637L	retained_intron, protein_coding, processed_transcript	uc002ate.2	nonsynonymous SNV	exon6	c.C830T	p.S277L	GTTECSTTCGKGSQYPIFRCVHRST	GTTECSTTCGKGLQYPIFRCVHRST	1.0	7.0	unscreened	-	3879_15:72037448-72037448 C>T_GTTECSTTCGKGLQYPIFRCVHRST
1:151491056-151491056 C>T	0.0	3879	MELANOMA	-	-	ID=COSM1667939;OCCURENCE=1(large_intestine)	-	CGN	ENST00000427934,p.R21C|ENST00000502442,p.R21C|ENST00000505188,p.R21C|ENST00000271636,p.R21C|uc009wmw.3,p.R21C|NM_020770,p.R21C	retained_intron, protein_coding	uc009wmw.3	nonsynonymous SNV	exon2	c.C61T	p.R21C	EPRGPVDHGVQIRFITEPVSGAEMG	EPRGPVDHGVQICFITEPVSGAEMG	2.0	1.0	unscreened	-	3879_1:151491056-151491056 C>T_EPRGPVDHGVQICFITEPVSGAEMG
11:66101452-66101452 G>A	0.0	3879	MELANOMA	-	-	-	-	RIN1	uc010roy.1,p.A141V|uc001ohn.1,p.A510V|ENST00000424433,p.A405V|uc009yrd.1,p.A203V|ENST00000530056,p.A344V|uc010roz.1,p.A405V|NM_004292,p.A510V|ENST00000311320,p.A510V|uc010rpa.1,p.A344V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rpa.1	nonsynonymous SNV	exon6	c.C1031T	p.A344V	KLLQLLRTYSPSAQVKRLLQACKLL	KLLQLLRTYSPSVQVKRLLQACKLL	1.0	1.0	unscreened	-	3879_11:66101452-66101452 G>A_KLLQLLRTYSPSVQVKRLLQACKLL
1:202128596-202128596 C>T	0.0	3879	MELANOMA	-	-	-	-	PTPN7	ENST00000367279,p.A18T|NM_080588,p.A18T|uc001gxl.2,p.A18T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001gxl.2	nonsynonymous SNV	exon1	c.G52A	p.A18T	WPIRQAREQQRRALSFRQTSWLSEP	WPIRQAREQQRRTLSFRQTSWLSEP	1.0	1.0	unscreened	-	3879_1:202128596-202128596 C>T_WPIRQAREQQRRTLSFRQTSWLSEP
3:138739338-138739338 C>T	0.0	3879	MELANOMA	-	-	-	-	PRR23B	uc003esy.1,p.A56T|ENST00000329447,p.A56T|NM_001013650,p.A56T	protein_coding	uc003esy.1	nonsynonymous SNV	exon1	c.G166A	p.A56T	SLEDPAGDPAVDALTSIVVLAAGCA	SLEDPAGDPAVDTLTSIVVLAAGCA	1.0	10.0	unscreened	-	3879_3:138739338-138739338 C>T_SLEDPAGDPAVDTLTSIVVLAAGCA
14:24044994-24044994 G>A	0.0	3879	MELANOMA	-	-	-	-	JPH4	uc001wkr.2,p.L351F|uc001wkq.2,p.L351F|ENST00000397118,p.L351F|ENST00000356300,p.L351F|uc001wks.2,p.L351F|NM_001146028,p.L351F|NM_032452,p.L351F	retained_intron, protein_coding	uc001wks.2	nonsynonymous SNV	exon3	c.C1051T	p.L351F	HGGRVRSLLPLALRRGKVKEKVDRA	HGGRVRSLLPLAFRRGKVKEKVDRA	1.0	9.0	unscreened	-	3879_14:24044994-24044994 G>A_HGGRVRSLLPLAFRRGKVKEKVDRA
11:132527015-132527015 G>A	0.0	3879	MELANOMA	-	-	-	-	OPCML	uc010scl.2,p.P82S|uc001qgt.3,p.P123S|uc001qgs.3,p.P123S|ENST00000374778,p.P82S|NM_001012393,p.P116S|ENST00000541867,p.P123S|ENST00000331898,p.P123S|uc010sck.2,p.P123S|NM_002545,p.P123S|ENST00000524381,p.P116S|uc001qgu.3,p.P116S	protein_coding, processed_transcript	uc010scl.2	nonsynonymous SNV	exon3	c.C244T	p.P82S	GPYTCSVQTDNHPKTSRVHLIVQVP	GPYTCSVQTDNHSKTSRVHLIVQVP	1.0	10.0	unscreened	-	3879_11:132527015-132527015 G>A_GPYTCSVQTDNHSKTSRVHLIVQVP
15:22369038-22369038 C>T	0.0	3879	MELANOMA	-	-	-	-	OR4M2	ENST00000332663,p.H155Y|NM_001004719,p.H155Y|uc010tzu.2,p.H155Y	protein_coding	uc010tzu.2	nonsynonymous SNV	exon1	c.C463T	p.H155Y	ILVALSWRGGFIHSIIQVALIVRLP	ILVALSWRGGFIYSIIQVALIVRLP	1.0	5.0	unscreened	-	3879_15:22369038-22369038 C>T_ILVALSWRGGFIYSIIQVALIVRLP
7:37780105-37780105 C>T	0.0	3879	MELANOMA	-	-	-	-	GPR141	NM_181791,p.S37F|ENST00000447769,p.S37F|ENST00000450180,p.S37F|uc003tfm.1,p.S37F|ENST00000334425,p.S37F	protein_coding, processed_transcript	uc003tfm.1	nonsynonymous SNV	exon1	c.C110T	p.S37F	FIVLIGGLVGVISILFLLVKMNTRS	FIVLIGGLVGVIFILFLLVKMNTRS	1.0	4.0	unscreened	-	3879_7:37780105-37780105 C>T_FIVLIGGLVGVIFILFLLVKMNTRS
1:241099903-241099903 A>T	0.0	3879	MELANOMA	-	-	ID=COSM3700676,COSM3700678,COSM3700677;OCCURENCE=1(liver)	2	RGS7	uc001hyv.2,p.F110L|ENST00000366563,p.F110L|uc010pyj.1,p.F26L|uc001hyu.2,p.F110L|ENST00000366565,p.F110L|ENST00000331110,p.F84L|NM_002924,p.F110L|ENST00000366562,p.F110L|NM_001282775,p.F110L|uc010pyh.2,p.F84L|ENST00000407727,p.F110L|uc001hyw.2,p.F110L|ENST00000446183,p.F26L|NM_001282778,p.F110L|ENST00000366564,p.F110L	protein_coding	uc010pyj.1	nonsynonymous SNV	exon5	c.T78A	p.F26L	VLTLKDDGTFYRFQTPYFWPSNCWE	VLTLKDDGTFYRLQTPYFWPSNCWE	2.0	1.0	unscreened	-	3879_1:241099903-241099903 A>T_VLTLKDDGTFYRLQTPYFWPSNCWE
16:77465277-77465277 T>A	0.0	3879	MELANOMA	-	-	-	-	ADAMTS18	NM_199355,p.K137I|uc002ffc.4,p.K137I|ENST00000282849,p.K137I|ENST00000449265,p.K137I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ffc.4	nonsynonymous SNV	exon3	c.A410T	p.K137I	QVLGKDGASETQKPEVQQCFYQGFI	QVLGKDGASETQIPEVQQCFYQGFI	1.0	8.0	unscreened	-	3879_16:77465277-77465277 T>A_QVLGKDGASETQIPEVQQCFYQGFI
19:31767818-31767818 C>T	0.0	3879	MELANOMA	-	-	-	-	TSHZ3	uc002nsy.4,p.G961S|NM_020856,p.G961S|ENST00000240587,p.G961S	protein_coding, processed_transcript	uc002nsy.4	nonsynonymous SNV	exon2	c.G2881A	p.G961S	WLANVKYQLRRTGGTKFLKNLDTGH	WLANVKYQLRRTSGTKFLKNLDTGH	2.0	3.0	unscreened	-	3879_19:31767818-31767818 C>T_WLANVKYQLRRTSGTKFLKNLDTGH
19:50099040-50099040 C>T	0.0	3879	MELANOMA	-	-	-	-	PRR12	uc002poo.4,p.P483L|ENST00000418929,p.P483L|NM_020719,p.P483L	retained_intron, protein_coding	uc002poo.4	nonsynonymous SNV	exon4	c.C1448T	p.P483L	KAPSYSGGPPQPPSGPPPPGLATCQ	KAPSYSGGPPQPLSGPPPPGLATCQ	6.0	2.0	unscreened	-	3879_19:50099040-50099040 C>T_KAPSYSGGPPQPLSGPPPPGLATCQ
1:158811998-158811998 G>A	0.0	3879	MELANOMA	-	-	-	-	MNDA	ENST00000368141,p.D19N|uc001fsz.1,p.D19N|NM_002432,p.D19N	protein_coding, processed_transcript	uc001fsz.1	nonsynonymous SNV	exon2	c.G55A	p.D19N	KILLLKGFELMDDYHFTSIKSLLAY	KILLLKGFELMDNYHFTSIKSLLAY	1.0	1.0	unscreened	-	3879_1:158811998-158811998 G>A_KILLLKGFELMDNYHFTSIKSLLAY
11:66454982-66454982 G>A	0.0	3879	MELANOMA	-	-	-	-	SPTBN2	ENST00000533211,p.P2213L|ENST00000529997,p.P2213L|NM_006946,p.P2213L|ENST00000309996,p.P2213L	retained_intron, protein_coding	NM_006946	nonsynonymous SNV	exon34	c.C6638T	p.P2213L	ESAHAATLPPRGPEPSAQEQMEGML	ESAHAATLPPRGLEPSAQEQMEGML	5.0	8.0	unscreened	-	3879_11:66454982-66454982 G>A_ESAHAATLPPRGLEPSAQEQMEGML
8:143614797-143614797 C>T	0.0	3879	MELANOMA	-	-	-	-	BAI1	ENST00000521208,p.R1152C	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000521208	nonsynonymous SNV	exon24	c.C3454T	p.R1152C	LRCLRLAGGLRHRHGALYPP	LRCLRLAGGLRHCHGALYPP	2.0	7.0	unscreened	-	3879_8:143614797-143614797 C>T_LRCLRLAGGLRHCHGALYPP
14:72936715-72936715 G>A	0.0	3879	MELANOMA	-	-	-	-	RGS6	uc021rvv.1,p.E119K|uc001xmy.4,p.E154K|uc021rvx.1,p.E154K|uc001xna.4,p.E154K|NM_001204421,p.E154K|NM_001204420,p.E154K|uc021rwa.1,p.E154K|ENST00000553530,p.E154K|ENST00000434263,p.E85K|ENST00000355512,p.E154K|uc021rvy.1,p.E154K|uc010ttn.2,p.E154K|NM_001204418,p.E154K|NM_001204424,p.E154K|ENST00000407322,p.E154K|uc021rvw.1,p.E154K|ENST00000406236,p.E154K|NM_001204416,p.E154K|NM_001204423,p.E119K|ENST00000554474,p.E154K|ENST00000556437,p.E154K|uc021rwb.1,p.E154K|ENST00000554782,p.E15K|NM_004296,p.E154K|NM_001204419,p.E154K|NM_001204422,p.E154K|uc001xmx.4,p.E154K|ENST00000402788,p.E154K|ENST00000343854,p.E154K|uc021rwc.1,p.E15K|uc010ttp.1,p.E85K|ENST00000555571,p.E154K|ENST00000404301,p.E154K|uc021rvz.1,p.E154K|ENST00000553525,p.E154K|NM_001204417,p.E154K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021rwc.1	nonsynonymous SNV	exon3	c.G43A	p.E15K	NKARLELADYEAENLARLQRAFARK	NKARLELADYEAKNLARLQRAFARK	1.0	5.0	unscreened	-	3879_14:72936715-72936715 G>A_NKARLELADYEAKNLARLQRAFARK
X:139866024-139866024 C>T	0.0	3879	MELANOMA	-	-	-	-	CDR1	uc004fbg.1,p.G170R|ENST00000370532,p.G170R|NM_004065,p.G170R	protein_coding	uc004fbg.1	nonsynonymous SNV	exon1	c.G508A	p.G170R	KLSGRLGLLGRRGFSGRLGGYWKTW	KLSGRLGLLGRRRFSGRLGGYWKTW	1.0	10.0	unscreened	-	3879_X:139866024-139866024 C>T_KLSGRLGLLGRRRFSGRLGGYWKTW
2:234091140-234091140 A>T	0.0	3879	MELANOMA	-	-	-	-	INPP5D	ENST00000435188,p.K340M|ENST00000450745,p.K471M|ENST00000445964,p.K340M|ENST00000359570,p.K707M|ENST00000415617,p.K340M|ENST00000455936,p.K471M	retained_intron, protein_coding, processed_transcript	ENST00000455936	nonsynonymous SNV	exon14	c.A1412T	p.K471M	TFEAGVTSQFVSKNGPGTVDSQGQI	TFEAGVTSQFVSMNGPGTVDSQGQI	4.0	5.0	unscreened	-	3879_2:234091140-234091140 A>T_TFEAGVTSQFVSMNGPGTVDSQGQI
10:115962894-115962894 G>A	0.0	3879	MELANOMA	-	-	-	-	TDRD1	ENST00000369280,p.D254N|uc001lbg.1,p.D254N|uc001lbh.1,p.D245N|ENST00000369281,p.D254N|uc001lbi.1,p.D245N|ENST00000251864,p.D254N|ENST00000369282,p.D254N|uc001lbf.3,p.D245N|NM_198795,p.D254N	protein_coding	uc001lbi.1	nonsynonymous SNV	exon7	c.G733A	p.D245N	EIAIWAERIMFSDLRSLQLKKTMEI	EIAIWAERIMFSNLRSLQLKKTMEI	1.0	3.0	unscreened	-	3879_10:115962894-115962894 G>A_EIAIWAERIMFSNLRSLQLKKTMEI
15:43585745-43585745 C>T	0.0	3879	MELANOMA	-	-	-	-	TGM7	uc001zrf.1,p.R32Q|NM_052955,p.R32Q|ENST00000452443,p.R32Q	retained_intron, protein_coding	uc001zrf.1	nonsynonymous SNV	exon2	c.G95A	p.R32Q	NKEHHTQEMGVKRLTVRRGQPFYLR	NKEHHTQEMGVKQLTVRRGQPFYLR	1.0	10.0	unscreened	-	3879_15:43585745-43585745 C>T_NKEHHTQEMGVKQLTVRRGQPFYLR
3:407654-407654 C>T	0.0	3879	MELANOMA	-	-	-	-	CHL1	uc003bou.3,p.S520F|NM_006614,p.S536F|NM_001253387,p.S520F|ENST00000397491,p.S520F|ENST00000256509,p.S536F|uc003bow.2,p.S520F|uc003bot.3,p.S536F|NM_001253388,p.S536F|uc011asi.2,p.S536F	protein_coding, processed_transcript, nonsense_mediated_decay	uc011asi.2	nonsynonymous SNV	exon13	c.C1607T	p.S536F	NLDIRNATKLRVSPKNPRIPKLHML	NLDIRNATKLRVFPKNPRIPKLHML	3.0	10.0	unscreened	-	3879_3:407654-407654 C>T_NLDIRNATKLRVFPKNPRIPKLHML
5:38933095-38933095 C>T	0.0	3879	MELANOMA	-	-	-	-	OSMR	uc003jln.2,p.T830I|NM_003999,p.T830I|uc011cpj.2,p.T34I|ENST00000274276,p.T830I	protein_coding, nonsense_mediated_decay	uc011cpj.2	nonsynonymous SNV	exon8	c.C101T	p.T34I	IQFLGTRKSLTETELTKPNYLYLLP	IQFLGTRKSLTEIELTKPNYLYLLP	3.0	5.0	unscreened	-	3879_5:38933095-38933095 C>T_IQFLGTRKSLTEIELTKPNYLYLLP
10:72434650-72434650 C>T	0.0	3879	MELANOMA	-	-	-	-	ADAMTS14	uc001jrh.3,p.R141W|NM_139155,p.R141W|NM_080722,p.R141W|uc001jrg.3,p.R141W|ENST00000373207,p.R141W|ENST00000373208,p.R141W	protein_coding	uc001jrh.3	nonsynonymous SNV	exon2	c.C421T	p.R141W	VPGSSVEWQEDFRELFRQPLRQECV	VPGSSVEWQEDFWELFRQPLRQECV	1.0	9.0	unscreened	-	3879_10:72434650-72434650 C>T_VPGSSVEWQEDFWELFRQPLRQECV
3:67054620-67054620 C>T	0.0	3879	MELANOMA	-	-	-	-	KBTBD8	ENST00000417314,p.S410F|NM_032505,p.S410F|uc003dmy.3,p.S410F|ENST00000295568,p.S384F	protein_coding, processed_transcript	uc003dmy.3	nonsynonymous SNV	exon3	c.C1229T	p.S410F	RVYEGDGRNSLKSVECYDSRENCWT	RVYEGDGRNSLKFVECYDSRENCWT	2.0	9.0	unscreened	-	3879_3:67054620-67054620 C>T_RVYEGDGRNSLKFVECYDSRENCWT
14:44975253-44975253 G>A	0.0	3879	MELANOMA	-	-	-	-	FSCB	uc001wvn.3,p.S313F|NM_032135,p.S313F|ENST00000340446,p.S313F	protein_coding	uc001wvn.3	nonsynonymous SNV	exon1	c.C938T	p.S313F	PDAEAATAVAENSVKVQPPPAEEAP	PDAEAATAVAENFVKVQPPPAEEAP	1.0	8.0	unscreened	-	3879_14:44975253-44975253 G>A_PDAEAATAVAENFVKVQPPPAEEAP
1:201972427-201972427 C>T	1.0	3879	MELANOMA	-	-	-	-	RNPEP	uc001gxe.3,p.P198S|ENST00000367286,p.P458S|ENST00000295640,p.P497S|uc001gxd.3,p.P497S|NM_020216,p.P497S	protein_coding, processed_transcript	uc001gxe.3	nonsynonymous SNV	exon8	c.C592T	p.P198S	TPGWPPYLPDLSPGDSLMKPAEELA	TPGWPPYLPDLSSGDSLMKPAEELA	9.0	1.0	-	-	3879_1:201972427-201972427 C>T_TPGWPPYLPDLSSGDSLMKPAEELA
2:111556630-111556630 G>A	0.0	3879	MELANOMA	-	-	-	-	ACOXL	ENST00000439055,p.G167E|ENST00000340561,p.G167E|NM_001142807,p.G167E|uc010yxk.1,p.G167E|ENST00000389811,p.G167E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010yxk.1	nonsynonymous SNV	exon7	c.G500A	p.G167E	PHCFIVPVRDENGSLYPGVTAIDMM	PHCFIVPVRDENESLYPGVTAIDMM	1.0	7.0	unscreened	-	3879_2:111556630-111556630 G>A_PHCFIVPVRDENESLYPGVTAIDMM
12:104119919-104119919 C>T	0.0	3879	MELANOMA	-	-	-	-	STAB2	NM_017564,p.S1610F|uc001tjw.3,p.S1610F|ENST00000388887,p.S1610F	retained_intron, protein_coding, nonsense_mediated_decay	uc001tjw.3	nonsynonymous SNV	exon46	c.C4829T	p.S1610F	SIYQELPKNPKTSQYFFQLQEHFVK	SIYQELPKNPKTFQYFFQLQEHFVK	1.0	5.0	unscreened	-	3879_12:104119919-104119919 C>T_SIYQELPKNPKTFQYFFQLQEHFVK
4:149356757-149356757 G>A	0.0	3879	MELANOMA	-	-	-	-	NR3C2	NM_001166104,p.S419L|ENST00000355292,p.S419L|ENST00000342437,p.S419L|uc003ilk.4,p.S419L|ENST00000512865,p.S419L|ENST00000358102,p.S419L|NM_000901,p.S419L|ENST00000344721,p.S419L|ENST00000511528,p.S419L|uc003ilj.4,p.S419L	retained_intron, protein_coding, processed_transcript	uc003ilk.4	nonsynonymous SNV	exon2	c.C1256T	p.S419L	SSSCLGGNSKINSDSSFSVPIKQES	SSSCLGGNSKINLDSSFSVPIKQES	5.0	3.0	unscreened	-	3879_4:149356757-149356757 G>A_SSSCLGGNSKINLDSSFSVPIKQES
11:121437754-121437754 C>T	0.0	3879	MELANOMA	-	-	-	-	SORL1	ENST00000260197,p.P1052L|NM_003105,p.P1052L|uc001pxx.3,p.P1052L	retained_intron, protein_coding, processed_transcript	uc001pxx.3	nonsynonymous SNV	exon22	c.C3155T	p.P1052L	CRCPEDVSSSVLPSGDLMCDCPQGY	CRCPEDVSSSVLLSGDLMCDCPQGY	4.0	9.0	unscreened	-	3879_11:121437754-121437754 C>T_CRCPEDVSSSVLLSGDLMCDCPQGY
6:88140774-88140774 T>C	0.0	3879	MELANOMA	-	-	-	-	C6orf165	ENST00000507897,p.F395L|NM_001031743,p.F395L|uc003plw.3,p.F207L|uc003plu.2,p.F395L|uc003plv.3,p.F395L|ENST00000369562,p.F395L	retained_intron, processed_transcript, nonsense_mediated_decay, protein_coding	uc003plw.3	nonsynonymous SNV	exon10	c.T619C	p.F207L	KEHMEDRVNVADFRKLEWLFPETTA	KEHMEDRVNVADLRKLEWLFPETTA	2.0	8.0	unscreened	-	3879_6:88140774-88140774 T>C_KEHMEDRVNVADLRKLEWLFPETTA
8:3165842-3165842 G>A	0.0	3879	MELANOMA	-	-	-	-	CSMD1	ENST00000602557,p.S1273L|ENST00000542608,p.S1272L|ENST00000539096,p.S1272L|ENST00000520002,p.S1273L|uc011kwj.2,p.S665L|ENST00000400186,p.S1273L|ENST00000602723,p.S1273L|uc022aqr.1,p.S1272L|ENST00000537824,p.S1272L|NM_033225,p.S1272L|uc003wqe.3,p.S429L	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon24	c.C3815T	p.S1272L	SGDRRVWDKPLPSCIAECGGQIHAA	SGDRRVWDKPLPLCIAECGGQIHAA	1.0	6.0	unscreened	-	3879_8:3165842-3165842 G>A_SGDRRVWDKPLPLCIAECGGQIHAA
12:43822313-43822313 C>T	0.0	3879	MELANOMA	-	-	-	-	ADAMTS20	ENST00000395541,p.G344R|uc001rno.1,p.G344R|uc001rnp.1,p.G380R|ENST00000389420,p.G1226R|uc010skx.2,p.G1226R|NM_025003,p.G1226R|ENST00000549670,p.G356R|ENST00000553158,p.G1226R	protein_coding	uc010skx.2	nonsynonymous SNV	exon26	c.G3676A	p.G1226R	GDWSPCSASCGHGKTTRQVLCMNYH	GDWSPCSASCGHRKTTRQVLCMNYH	1.0	9.0	unscreened	-	3879_12:43822313-43822313 C>T_GDWSPCSASCGHRKTTRQVLCMNYH
17:66536100-66536100 C>T	0.0	3879	MELANOMA	-	-	-	-	FAM20A	uc002jho.3,p.M409I|NM_017565,p.M409I|ENST00000592554,p.M409I|uc002jhn.3,p.M120I|uc010wqp.2,p.M271I|NM_001243746,p.M271I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wqp.2	nonsynonymous SNV	exon10	c.G813A	p.M271I	IDMAIFDFLIGNMDRHHYEMFTKFG	IDMAIFDFLIGNIDRHHYEMFTKFG	3.0	2.0	unscreened	-	3879_17:66536100-66536100 C>T_IDMAIFDFLIGNIDRHHYEMFTKFG
3:189456501-189456501 A>C	0.0	3879	MELANOMA	-	-	-	1	TP63	ENST00000418709,p.K88Q|ENST00000440651,p.K88Q|NM_001114978,p.K88Q|uc003frz.2,p.K88Q|uc003frx.2,p.K88Q|ENST00000264731,p.K88Q|NM_003722,p.K88Q|ENST00000392460,p.K88Q|uc010hzc.1,p.K88Q|uc003fry.2,p.K88Q|NM_001114979,p.K88Q|ENST00000382063,p.K88Q|ENST00000320472,p.K88Q	retained_intron, protein_coding	uc010hzc.1	nonsynonymous SNV	exon3	c.A262C	p.K88Q	FVDEPSEDGATNKIEISMDCIRMQD	FVDEPSEDGATNQIEISMDCIRMQD	1.0	9.0	unscreened	-	3879_3:189456501-189456501 A>C_FVDEPSEDGATNQIEISMDCIRMQD
18:59206283-59206283 C>T	0.0	3879	MELANOMA	-	-	-	-	CDH20	ENST00000538374,p.P479S|NM_031891,p.P479S|uc010dps.1,p.P479S|ENST00000536675,p.P479S|ENST00000262717,p.P479S|uc002lif.2,p.P473S	protein_coding	uc010dps.1	nonsynonymous SNV	exon8	c.C1435T	p.P479S	MEMNNPSQVGSVPVTIKVLDVNDNA	MEMNNPSQVGSVSVTIKVLDVNDNA	1.0	9.0	unscreened	-	3879_18:59206283-59206283 C>T_MEMNNPSQVGSVSVTIKVLDVNDNA
6:129963075-129963075 C>T	1.0	3879	MELANOMA	-	-	ID=COSM1440419;OCCURENCE=1(large_intestine)	-	ARHGAP18	uc011ebw.2,p.D68N|uc003qbr.3,p.D68N|ENST00000368149,p.D68N|uc021zfe.1,p.D65N|NM_033515,p.D68N	protein_coding, processed_transcript	uc021zfe.1	nonsynonymous SNV	exon4	c.G193A	p.D65N	MEKPPFDRSISQDSLDELSMEDYWI	MEKPPFDRSISQNSLDELSMEDYWI	1.0	5.0	-	-	3879_6:129963075-129963075 C>T_MEKPPFDRSISQNSLDELSMEDYWI
10:15634299-15634299 G>A	0.0	3879	MELANOMA	-	-	-	-	ITGA8	NM_003638,p.S739F|uc010qcb.1,p.S724F|uc001ioc.1,p.S739F|ENST00000378076,p.S739F|NM_001291494,p.S724F	protein_coding, processed_transcript	uc010qcb.1	nonsynonymous SNV	exon21	c.C2171T	p.S724F	DLGNPMVSGTNYSLGLRFAVPRLEK	DLGNPMVSGTNYFLGLRFAVPRLEK	3.0	8.0	unscreened	-	3879_10:15634299-15634299 G>A_DLGNPMVSGTNYFLGLRFAVPRLEK
16:26147315-26147315 G>A	0.0	3879	MELANOMA	-	-	-	-	HS3ST4	uc002dof.3,p.D373N|NM_006040,p.D373N|ENST00000331351,p.D373N	protein_coding, processed_transcript	uc002dof.3	nonsynonymous SNV	exon2	c.G1117A	p.D373N	IVDPAGEMAKVQDFLGLKRVVTEKH	IVDPAGEMAKVQNFLGLKRVVTEKH	1.0	7.0	unscreened	-	3879_16:26147315-26147315 G>A_IVDPAGEMAKVQNFLGLKRVVTEKH
X:102334325-102334325 C>T	0.0	3879	MELANOMA	-	-	-	-	NXF3	NM_022052,p.D433N|uc010noi.1,p.D283N|uc031tke.1,p.D105N|uc004eju.3,p.D433N|ENST00000395065,p.D433N|ENST00000425644,p.D105N	protein_coding, processed_transcript	uc031tke.1	nonsynonymous SNV	exon5	c.G313A	p.D105N	VDSLSALPKTQHDLSSFLVDMWYQT	VDSLSALPKTQHNLSSFLVDMWYQT	1.0	10.0	unscreened	-	3879_X:102334325-102334325 C>T_VDSLSALPKTQHNLSSFLVDMWYQT
8:24197069-24197069 C>T	0.0	3879	MELANOMA	-	-	-	-	ADAM28	uc003xdy.3,p.P553L|NM_014265,p.P553L|uc010lua.3,p.P240L|ENST00000397649,p.P300L|ENST00000265769,p.P553L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lua.3	nonsynonymous SNV	exon6	c.C719T	p.P240L	YGYCRRVDDTLIPCKANDTMCGKLF	YGYCRRVDDTLILCKANDTMCGKLF	3.0	8.0	unscreened	-	3879_8:24197069-24197069 C>T_YGYCRRVDDTLILCKANDTMCGKLF
1:233515270-233515270 C>T	0.0	3879	MELANOMA	-	-	-	-	KIAA1804	uc001hvu.4,p.P286S|ENST00000366624,p.P840S|uc001hvt.4,p.P840S|ENST00000366622,p.P286S|NM_032435,p.P840S	protein_coding	uc001hvu.4	nonsynonymous SNV	exon3	c.C856T	p.P286S	TCDSEMLTPDFCPTAPGSGREPALM	TCDSEMLTPDFCSTAPGSGREPALM	1.0	1.0	unscreened	-	3879_1:233515270-233515270 C>T_TCDSEMLTPDFCSTAPGSGREPALM
12:55357621-55357621 G>A	0.0	3879	MELANOMA	-	-	-	-	TESPA1	uc010spc.2,p.T49I|NM_001098815,p.T187I|ENST00000533446,p.T49I|ENST00000524622,p.T49I|NM_001136030,p.T187I|ENST00000532757,p.T49I|ENST00000531122,p.T49I|ENST00000526532,p.T49I|ENST00000316577,p.T187I|NM_001261844,p.T49I|ENST00000449076,p.T187I|ENST00000524923,p.T49I|uc010spd.2,p.T187I|NM_014796,p.T49I|uc001sgl.4,p.T49I|ENST00000532804,p.T49I|uc001sgn.4,p.T187I	protein_coding, processed_transcript, nonsense_mediated_decay	uc010spd.2	nonsynonymous SNV	exon8	c.C560T	p.T187I	HKDTSRIPARFFTTPSQAKGIDFQL	HKDTSRIPARFFITPSQAKGIDFQL	1.0	5.0	unscreened	-	3879_12:55357621-55357621 G>A_HKDTSRIPARFFITPSQAKGIDFQL
17:18022779-18022779 C>T	0.0	3879	MELANOMA	-	-	-	-	MYO15A	uc021trl.1,p.S222L|ENST00000205890,p.S222L|uc021trm.1,p.S222L|NM_016239,p.S222L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021trm.1	nonsynonymous SNV	exon1	c.C665T	p.S222L	DEAPFHHSGSRKSLYGLEGFQDLGE	DEAPFHHSGSRKLLYGLEGFQDLGE	1.0	9.0	unscreened	-	3879_17:18022779-18022779 C>T_DEAPFHHSGSRKLLYGLEGFQDLGE
19:9801776-9801776 C>T	0.0	3879	MELANOMA	-	-	-	-	ZNF812	NM_001199814,p.E135K|ENST00000457674,p.E135K|uc010xkx.2,p.E31K|uc021uop.1,p.E135K	protein_coding, processed_transcript	uc021uop.1	nonsynonymous SNV	exon6	c.G403A	p.E135K	ILSVHKEASIGQELSKFNPCGKVFT	ILSVHKEASIGQKLSKFNPCGKVFT	2.0	3.0	unscreened	-	3879_19:9801776-9801776 C>T_ILSVHKEASIGQKLSKFNPCGKVFT
14:38724528-38724528 G>A	0.0	3879	MELANOMA	-	-	-	-	CLEC14A	NM_175060,p.R234C|ENST00000342213,p.R234C|uc001wum.2,p.R234C	protein_coding	uc001wum.2	nonsynonymous SNV	exon1	c.C700T	p.R234C	ISVTCIADEIGARWDKLSGDVLCPC	ISVTCIADEIGACWDKLSGDVLCPC	4.0	5.0	unscreened	-	3879_14:38724528-38724528 G>A_ISVTCIADEIGACWDKLSGDVLCPC
3:46753882-46753882 C>T	0.0	3879	MELANOMA	-	-	ID=COSM3775072;OCCURENCE=1(urinary_tract)	-	PRSS50	NM_013270,p.E338K|uc003cqe.1,p.E338K|ENST00000460241,p.E338K|ENST00000315170,p.E338K|uc003cqf.2,p.E252K	protein_coding	uc003cqf.2	nonsynonymous SNV	exon8	c.G754A	p.E252K	GLVSWGAGCQKSEAPPIYLQVSSYQ	GLVSWGAGCQKSKAPPIYLQVSSYQ	1.0	10.0	unscreened	-	3879_3:46753882-46753882 C>T_GLVSWGAGCQKSKAPPIYLQVSSYQ
6:25778165-25778165 T>G	0.0	3879	MELANOMA	-	-	-	-	SLC17A4	uc011djx.2,p.F197C|NM_005495,p.F427C|NM_001286121,p.F373C|ENST00000439485,p.F197C|uc003nfg.3,p.F364C|uc003nfe.3,p.F427C|ENST00000377905,p.F427C	protein_coding	uc011djx.2	nonsynonymous SNV	exon6	c.T590G	p.F197C	VNFLDIAPRYTGFLKGLLQVFAHIA	VNFLDIAPRYTGCLKGLLQVFAHIA	1.0	2.0	unscreened	-	3879_6:25778165-25778165 T>G_VNFLDIAPRYTGCLKGLLQVFAHIA
1:47400773-47400773 G>A	0.0	3879	MELANOMA	-	-	-	-	CYP4A11	ENST00000310638,p.S230F|uc001cqq.2,p.S230F|uc001cqp.4,p.S230F|ENST00000371904,p.S230F|ENST00000371905,p.S230F|NM_000778,p.S230F	protein_coding, processed_transcript	uc001cqq.2	nonsynonymous SNV	exon6	c.C689T	p.S230F	IQAISDLNNLVFSRVRNAFHQNDTI	IQAISDLNNLVFFRVRNAFHQNDTI	1.0	4.0	unscreened	-	3879_1:47400773-47400773 G>A_IQAISDLNNLVFFRVRNAFHQNDTI
13:107187249-107187249 T>G	0.0	3879	MELANOMA	-	-	-	-	EFNB2	NM_004093,p.T22P|uc001vqi.3,p.T22P|ENST00000245323,p.T22P	protein_coding	uc001vqi.3	nonsynonymous SNV	exon1	c.A64C	p.T22P	KYCWGVLMVLCRTAISKSIVLEPIY	KYCWGVLMVLCRPAISKSIVLEPIY	5.0	6.0	unscreened	-	3879_13:107187249-107187249 T>G_KYCWGVLMVLCRPAISKSIVLEPIY
15:51676081-51676081 G>A	0.0	3879	MELANOMA	-	-	ID=COSM1708166;OCCURENCE=1(skin)	-	GLDN	uc010bez.1,p.E161K	retained_intron, protein_coding	uc010bez.1	nonsynonymous SNV	exon3	c.G481A	p.E161K	AQKEKKEQMEKEEKWVFLATLLINF	AQKEKKEQMEKEKKWVFLATLLINF	1.0	9.0	unscreened	-	3879_15:51676081-51676081 G>A_AQKEKKEQMEKEKKWVFLATLLINF
4:169189009-169189009 G>A	0.0	3879	MELANOMA	-	-	-	-	DDX60	NM_017631,p.S971L|uc003irp.3,p.S971L|ENST00000393743,p.S971L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003irp.3	nonsynonymous SNV	exon21	c.C2912T	p.S971L	AGFPKDYLQVKQSYKVRLVLYGERY	AGFPKDYLQVKQLYKVRLVLYGERY	4.0	7.0	unscreened	-	3879_4:169189009-169189009 G>A_AGFPKDYLQVKQLYKVRLVLYGERY
6:132874822-132874822 A>G	0.0	3879	MELANOMA	-	-	-	-	TAAR8	uc011ecj.2,p.K331E|NM_053278,p.K331E|ENST00000275200,p.K331E	protein_coding	uc011ecj.2	nonsynonymous SNV	exon1	c.A991G	p.K331E	KAIKLILSGDVLKASSSTISLFLE	KAIKLILSGDVLEASSSTISLFLE	1.0	8.0	unscreened	-	3879_6:132874822-132874822 A>G_KAIKLILSGDVLEASSSTISLFLE
11:92534371-92534371 G>A	1.0	3879	MELANOMA	-	-	-	2	FAT3	ENST00000409404,p.R2731K|ENST00000525166,p.R2581K|NM_001008781,p.R2731K|ENST00000298047,p.R2731K|uc001pdj.4,p.R2731K	retained_intron, protein_coding, processed_transcript	uc001pdj.4	nonsynonymous SNV	exon9	c.G8192A	p.R2731K	EDTAIGSTVDTLRILPSQNVWFSTV	EDTAIGSTVDTLKILPSQNVWFSTV	2.0	10.0	unscreened	-	3879_11:92534371-92534371 G>A_EDTAIGSTVDTLKILPSQNVWFSTV
11:46741359-46741359 G>A	0.0	3879	MELANOMA	-	-	-	-	F2	ENST00000311907,p.E63K|ENST00000442468,p.E53K|uc001ndf.4,p.E63K|ENST00000530231,p.E63K|NM_000506,p.E63K	retained_intron, protein_coding	uc001ndf.4	nonsynonymous SNV	exon2	c.G187A	p.E63K	VRKGNLERECVEETCSYEEAFEALE	VRKGNLERECVEKTCSYEEAFEALE	1.0	10.0	unscreened	-	3879_11:46741359-46741359 G>A_VRKGNLERECVEKTCSYEEAFEALE
20:23349485-23349485 T>G	1.0	3879	MELANOMA	-	-	-	-	GZF1	uc010zsq.2,p.S40A|ENST00000338121,p.S516A|uc002wsz.3,p.S516A|ENST00000542987,p.S25A|NM_022482,p.S516A|ENST00000377051,p.S516A|uc010zsr.2,p.S25A|uc002wsy.3,p.S516A|ENST00000544236,p.S40A|uc010gdb.3,p.S516A	protein_coding, processed_transcript	uc010zsr.2	nonsynonymous SNV	exon2	c.T73G	p.S25A	EYLKHHNRIHTGSKPFKCEVCFRTF	EYLKHHNRIHTGAKPFKCEVCFRTF	8.0	8.0	-	-	3879_20:23349485-23349485 T>G_EYLKHHNRIHTGAKPFKCEVCFRTF
6:132910181-132910181 C>T	0.0	3879	MELANOMA	-	-	-	-	TAAR5	uc003qdk.2,p.M215I|ENST00000258034,p.M215I|NM_003967,p.M215I	protein_coding	uc003qdk.2	nonsynonymous SNV	exon1	c.G645A	p.M215I	LNFPLFFVPCLIMISLYVKIFVVAT	LNFPLFFVPCLIIISLYVKIFVVAT	1.0	8.0	unscreened	-	3879_6:132910181-132910181 C>T_LNFPLFFVPCLIIISLYVKIFVVAT
1:94544930-94544930 C>T	0.0	3879	MELANOMA	-	-	-	-	ABCA4	uc010otn.1,p.G396E|ENST00000535735,p.G396E|NM_000350,p.G396E|ENST00000370225,p.G396E|uc001dqh.3,p.G396E	protein_coding, processed_transcript	uc010otn.1	nonsynonymous SNV	exon9	c.G1187A	p.G396E	KIAWRAAKPLLMGKILYTPDSPAAR	KIAWRAAKPLLMEKILYTPDSPAAR	1.0	4.0	unscreened	-	3879_1:94544930-94544930 C>T_KIAWRAAKPLLMEKILYTPDSPAAR
6:159654129-159654129 C>T	0.0	3879	MELANOMA	-	-	-	-	FNDC1	NM_032532,p.P862L|ENST00000340366,p.P799L|uc010kjv.3,p.P862L|ENST00000297267,p.P862L|uc010kjw.1,p.P747L	protein_coding, processed_transcript	uc010kjw.1	nonsynonymous SNV	exon9	c.C2240T	p.P747L	QSTVPSRAHPRVPSHSDSHPKLSSG	QSTVPSRAHPRVLSHSDSHPKLSSG	1.0	1.0	unscreened	-	3879_6:159654129-159654129 C>T_QSTVPSRAHPRVLSHSDSHPKLSSG
2:107040396-107040396 C>T	0.0	3879	MELANOMA	-	-	-	2	RGPD3	ENST00000409886,p.D1343N|uc010ywi.1,p.D1343N|ENST00000304514,p.D1343N|NM_001144013,p.D1343N	retained_intron, protein_coding	uc010ywi.1	nonsynonymous SNV	exon20	c.G4027A	p.D1343N	DGQYFEPVVPLPDLVEVSSGEENEQ	DGQYFEPVVPLPNLVEVSSGEENEQ	4.0	7.0	unscreened	-	3879_2:107040396-107040396 C>T_DGQYFEPVVPLPNLVEVSSGEENEQ
17:5087377-5087377 G>A	1.0	3879	MELANOMA	-	-	-	-	ZNF594	NM_032530,p.L59F|ENST00000575779,p.L59F|ENST00000576772,p.L59F|ENST00000399604,p.L59F|uc010cla.1,p.L59F|uc021tol.1,p.L59F	protein_coding	uc021tol.1	nonsynonymous SNV	exon1	c.C175T	p.L59F	HWVSPLKDAMRHLPSQESGIREMHI	HWVSPLKDAMRHFPSQESGIREMHI	5.0	10.0	-	-	3879_17:5087377-5087377 G>A_HWVSPLKDAMRHFPSQESGIREMHI
6:155761189-155761189 G>A	0.0	3879	MELANOMA	-	-	-	-	NOX3	ENST00000159060,p.S190L|NM_015718,p.S190L|uc003qqm.3,p.S190L	protein_coding	uc003qqm.3	nonsynonymous SNV	exon6	c.C569T	p.S190L	LVISLALVLIMTSSTEFIRQASYEL	LVISLALVLIMTLSTEFIRQASYEL	1.0	6.0	unscreened	-	3879_6:155761189-155761189 G>A_LVISLALVLIMTLSTEFIRQASYEL
19:15769328-15769328 G>A	0.0	3879	MELANOMA	-	-	-	-	CYP4F3	uc010xom.2,p.G277E|uc002nbj.3,p.G426E|ENST00000585846,p.G426E|NM_001199208,p.G426E|uc010xon.2,p.G136E|ENST00000591058,p.G426E|uc010xol.2,p.G426E|NM_001199209,p.G426E|ENST00000586182,p.G426E|uc010xok.2,p.G426E|uc002nbk.3,p.G426E|NM_000896,p.G426E|ENST00000221307,p.G426E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xon.2	nonsynonymous SNV	exon5	c.G407A	p.G136E	IPKGIICLISVFGTHHNPAVWPDPE	IPKGIICLISVFETHHNPAVWPDPE	1.0	3.0	unscreened	-	3879_19:15769328-15769328 G>A_IPKGIICLISVFETHHNPAVWPDPE
13:96086223-96086223 G>A	0.0	3879	MELANOMA	-	-	-	-	CLDN10	NM_001160100,p.G46S|uc010tii.1,p.G46S	protein_coding	uc010tii.1	nonsynonymous SNV	exon1	c.G136A	p.G46S	ASSVITATWVYQGLWMNCAGYIQAC	ASSVITATWVYQSLWMNCAGYIQAC	1.0	1.0	unscreened	-	3879_13:96086223-96086223 G>A_ASSVITATWVYQSLWMNCAGYIQAC
3:189612073-189612073 G>A	0.0	3879	MELANOMA	-	-	ID=COSM106685;OCCURENCE=2(skin)	1	TP63	ENST00000354600,p.E515K|ENST00000449992,p.E430K|ENST00000456148,p.E511K|ENST00000382063,p.E524K|uc003fsc.2,p.E515K|uc010hzd.1,p.E430K|ENST00000264731,p.E609K|ENST00000440651,p.E605K|NM_001114980,p.E515K|NM_003722,p.E609K|uc003fry.2,p.E609K	retained_intron, protein_coding	uc010hzd.1	nonsynonymous SNV	exon11	c.G1288A	p.E430K	IWKGILDHRQLHEFSSPSHLLRTPS	IWKGILDHRQLHKFSSPSHLLRTPS	1.0	10.0	unscreened	-	3879_3:189612073-189612073 G>A_IWKGILDHRQLHKFSSPSHLLRTPS
10:134755159-134755159 T>A	0.0	3879	MELANOMA	-	-	-	-	CFAP46	ENST00000368585,p.Q81L|uc001llu.3,p.Q81L|uc021qbc.1,p.Q81L|ENST00000368586,p.Q81L|uc001llt.3,p.Q81L|NM_001200049,p.Q81L|ENST00000368582,p.Q81L	retained_intron, protein_coding	uc021qbc.1	nonsynonymous SNV	exon3	c.A242T	p.Q81L	IQMYFKVKAPITQFLGRAHLCRAQM	IQMYFKVKAPITLFLGRAHLCRAQM	1.0	2.0	unscreened	-	3879_10:134755159-134755159 T>A_IQMYFKVKAPITLFLGRAHLCRAQM
9:125486812-125486812 A>G	0.0	3879	MELANOMA	-	-	-	-	OR1L4	ENST00000259466,p.T182A|NM_001005235,p.T182A|uc004bmu.1,p.T182A	protein_coding	uc004bmu.1	nonsynonymous SNV	exon1	c.A544G	p.T182A	CASHIIKHFFCDTQPVLKLSCSDTS	CASHIIKHFFCDAQPVLKLSCSDTS	1.0	8.0	unscreened	-	3879_9:125486812-125486812 A>G_CASHIIKHFFCDAQPVLKLSCSDTS
10:85972057-85972057 T>C	0.0	3879	MELANOMA	-	-	-	-	CDHR1	NM_001171971,p.V559A|uc001kcv.3,p.V559A|ENST00000440770,p.V263A|NM_033100,p.V559A|ENST00000372117,p.V559A|uc001kcw.3,p.V559A|uc009xst.3,p.V263A|ENST00000332904,p.V559A	protein_coding, processed_transcript	uc009xst.3	nonsynonymous SNV	exon8	c.T788C	p.V263A	YVKAEDMEGKYSVAEVFITLLDVND	YVKAEDMEGKYSAAEVFITLLDVND	1.0	5.0	unscreened	-	3879_10:85972057-85972057 T>C_YVKAEDMEGKYSAAEVFITLLDVND
13:32759237-32759237 C>T	0.0	3879	MELANOMA	-	-	ID=COSM946720;OCCURENCE=1(endometrium),1(prostate)	-	FRY	ENST00000380250,p.R1091W|uc001utx.3,p.R1091W|NM_023037,p.R1091W	protein_coding, processed_transcript, nonsense_mediated_decay	uc001utx.3	nonsynonymous SNV	exon26	c.C3271T	p.R1091W	ENDKEVEILKDIRAHFSAMVANLIQ	ENDKEVEILKDIWAHFSAMVANLIQ	4.0	6.0	unscreened	-	3879_13:32759237-32759237 C>T_ENDKEVEILKDIWAHFSAMVANLIQ
2:143713800-143713800 G>A	0.0	3879	MELANOMA	-	-	ID=COSM377056,COSM377055;OCCURENCE=1(lung)	-	KYNU	NM_003937,p.R155Q|NM_001032998,p.R155Q|ENST00000375773,p.R155Q|ENST00000264170,p.R155Q|uc010fnm.3,p.R155Q|NM_001199241,p.R155Q|uc002tvk.3,p.R155Q|ENST00000409512,p.R155Q|uc002tvl.3,p.R155Q	retained_intron, protein_coding, nonsense_mediated_decay	uc010fnm.3	nonsynonymous SNV	exon7	c.G464A	p.R155Q	LLMLSFFKPTPKRYKILLEAKAFPS	LLMLSFFKPTPKQYKILLEAKAFPS	1.0	2.0	unscreened	-	3879_2:143713800-143713800 G>A_LLMLSFFKPTPKQYKILLEAKAFPS
7:54617869-54617869 G>A	0.0	3879	MELANOMA	-	-	-	-	VSTM2A	ENST00000302287,p.E214K|ENST00000402026,p.E213K|uc022adk.1,p.E214K	retained_intron, protein_coding, processed_transcript	uc022adk.1	nonsynonymous SNV	exon4	c.G640A	p.E214K	AKIPKQSPQSGMETHFEPFILPLTN	AKIPKQSPQSGMKTHFEPFILPLTN	1.0	1.0	unscreened	-	3879_7:54617869-54617869 G>A_AKIPKQSPQSGMKTHFEPFILPLTN
20:41385137-41385137 G>A	0.0	3879	MELANOMA	-	-	-	1	PTPRT	uc010ggj.3,p.S275F|uc002xkg.3,p.S275F|ENST00000373184,p.S275F|ENST00000373190,p.S275F|ENST00000373198,p.S275F|NM_007050,p.S275F|ENST00000373187,p.S275F|NM_133170,p.S275F|ENST00000373193,p.S275F|ENST00000373201,p.S275F|ENST00000356100,p.S275F	protein_coding, processed_transcript	uc010ggj.3	nonsynonymous SNV	exon6	c.C824T	p.S275F	SKYRCVIRSDGGSGVSNYAELIVKE	SKYRCVIRSDGGFGVSNYAELIVKE	1.0	5.0	unscreened	-	3879_20:41385137-41385137 G>A_SKYRCVIRSDGGFGVSNYAELIVKE
2:223554146-223554146 T>C	0.0	3879	MELANOMA	-	-	ID=COSM1405808,COSM1405807;OCCURENCE=1(large_intestine)	-	MOGAT1	ENST00000446656,p.W146R|uc010fws.1,p.W146R|NM_058165,p.W146R|uc010fwt.1,p.W106R	protein_coding	uc010fwt.1	nonsynonymous SNV	exon2	c.T316C	p.W106R	PGFTSYLHVLPLWFWCPVFREYVMS	PGFTSYLHVLPLRFWCPVFREYVMS	1.0	2.0	unscreened	-	3879_2:223554146-223554146 T>C_PGFTSYLHVLPLRFWCPVFREYVMS
8:133899118-133899118 T>C	0.0	3879	MELANOMA	-	-	-	-	TG	NM_003235,p.F501L|ENST00000220616,p.F501L|uc003ytw.3,p.F501L|ENST00000377869,p.F501L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ytw.3	nonsynonymous SNV	exon9	c.T1501C	p.F501L	LGTRGTFNFSQFFQQLGLASFLNGG	LGTRGTFNFSQFLQQLGLASFLNGG	1.0	8.0	unscreened	-	3879_8:133899118-133899118 T>C_LGTRGTFNFSQFLQQLGLASFLNGG
12:53218035-53218035 C>T	0.0	3879	MELANOMA	-	-	-	-	KRT79	NM_175834,p.E323K|uc001sba.3,p.E94K|ENST00000330553,p.E323K|uc001sbb.3,p.E323K	retained_intron, protein_coding	uc001sbb.3	nonsynonymous SNV	exon5	c.G967A	p.E323K	LDSIIAEVKAQYELIAQRSRAEAEA	LDSIIAEVKAQYKLIAQRSRAEAEA	1.0	4.0	unscreened	-	3879_12:53218035-53218035 C>T_LDSIIAEVKAQYKLIAQRSRAEAEA
8:133141894-133141894 G>A	0.0	3879	MELANOMA	-	-	-	-	KCNQ3	ENST00000519445,p.P733L|uc003yti.3,p.P625L|uc003ytj.3,p.P745L|ENST00000521134,p.P625L|NM_004519,p.P745L|ENST00000388996,p.P745L|uc010mdt.3,p.P733L|NM_001204824,p.P625L	retained_intron, protein_coding	uc010mdt.3	nonsynonymous SNV	exon15	c.C2198T	p.P733L	TPPSSATTYVERPTVLPILTLLDSR	TPPSSATTYVERLTVLPILTLLDSR	1.0	8.0	unscreened	-	3879_8:133141894-133141894 G>A_TPPSSATTYVERLTVLPILTLLDSR
2:71896784-71896784 C>T	0.0	3879	MELANOMA	-	-	ID=COSM1022690,COSM1592376;OCCURENCE=1(endometrium)	-	DYSF	uc002sie.3,p.R1859C|NM_001130981,p.R1897C|NM_001130979,p.R1890C|ENST00000409582,p.R1897C|uc002sig.4,p.R1845C|ENST00000394120,p.R1860C|ENST00000410041,p.R1877C|NM_001130983,p.R1881C|uc010yqy.2,p.R740C|uc010fen.3,p.R1898C|NM_001130984,p.R1867C|NM_001130977,p.R1866C|ENST00000409366,p.R1881C|ENST00000429174,p.R1880C|NM_001130982,p.R1891C|ENST00000410020,p.R1898C|NM_003494,p.R1859C|uc010fem.3,p.R1881C|uc010yqz.2,p.R620C|NM_001130980,p.R1876C|NM_001130455,p.R1860C|NM_001130976,p.R1845C|ENST00000409744,p.R1867C|NM_001130978,p.R1880C|uc010feo.3,p.R1891C|uc010fef.3,p.R1897C|ENST00000258104,p.R1859C|uc002sif.3,p.R1860C|uc010fel.3,p.R1846C|uc010fek.3,p.R1877C|uc010fej.3,p.R1867C|uc010fei.3,p.R1876C|uc010fee.3,p.R1880C|ENST00000413539,p.R1890C|NM_001130986,p.R1846C|NM_001130985,p.R1877C|NM_001130987,p.R1898C|ENST00000409762,p.R1876C|uc010feh.3,p.R1866C|ENST00000409651,p.R1891C|uc010feg.3,p.R1890C	protein_coding, processed_transcript	uc010yqz.2	nonsynonymous SNV	exon17	c.C1858T	p.R620C	FEEHKQKTDVHYRSLGGEGNFNWRF	FEEHKQKTDVHYCSLGGEGNFNWRF	4.0	8.0	unscreened	-	3879_2:71896784-71896784 C>T_FEEHKQKTDVHYCSLGGEGNFNWRF
2:180308175-180308175 T>A	0.0	3879	MELANOMA	-	-	-	-	ZNF385B	NM_001113398,p.K304N|NM_001113397,p.K330N|uc002unn.4,p.K406N|NM_152520,p.K406N|ENST00000409343,p.K330N|ENST00000409692,p.K304N|ENST00000336917,p.K304N|uc002unl.4,p.K303N|NM_001282725,p.K304N|ENST00000410066,p.K406N|uc002unm.3,p.K330N|uc002unj.3,p.K304N	protein_coding, processed_transcript	uc002unn.4	nonsynonymous SNV	exon10	c.A1218T	p.K406N	SPSILAAKLAFQKDMMKPLAPAFLS	SPSILAAKLAFQNDMMKPLAPAFLS	1.0	9.0	unscreened	-	3879_2:180308175-180308175 T>A_SPSILAAKLAFQNDMMKPLAPAFLS
17:81052277-81052277 C>T	0.0	3879	MELANOMA	-	-	-	-	METRNL	uc002kgh.3,p.A298V|uc002kgi.3,p.A216V|ENST00000320095,p.A298V|ENST00000570778,p.A216V|ENST00000571814,p.A216V|NM_001004431,p.A298V|ENST00000574053,p.A77V	protein_coding, processed_transcript	uc002kgi.3	nonsynonymous SNV	exon3	c.C647T	p.A216V	PRFKDFQRMYRDAQERGLNPCEVGT	PRFKDFQRMYRDVQERGLNPCEVGT	5.0	2.0	unscreened	-	3879_17:81052277-81052277 C>T_PRFKDFQRMYRDVQERGLNPCEVGT
3:122277227-122277227 G>A	1.0	3879	MELANOMA	-	-	-	-	PARP9	ENST00000466126,p.P13S	retained_intron, protein_coding	ENST00000466126	nonsynonymous SNV	exon3	c.C37T	p.P13S	MDFSMKVFAQIFPQWRKGNTEECLP	MDFSMKVFAQIFSQWRKGNTEECLP	6.0	10.0	-	-	3879_3:122277227-122277227 G>A_MDFSMKVFAQIFSQWRKGNTEECLP
2:49191076-49191076 G>A	0.0	3879	MELANOMA	-	-	-	-	FSHR	ENST00000541117,p.S31F|uc002rww.3,p.S295F|NM_000145,p.S295F|ENST00000406846,p.S295F|ENST00000304421,p.S269F|NM_181446,p.S269F|uc010fbn.3,p.S269F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010fbn.3	nonsynonymous SNV	exon9	c.C806T	p.S269F	RQISELHPICNKSILRQEVDYMTQA	RQISELHPICNKFILRQEVDYMTQA	1.0	5.0	unscreened	-	3879_2:49191076-49191076 G>A_RQISELHPICNKFILRQEVDYMTQA
3:122277227-122277227 G>A	1.0	3879	MELANOMA	-	-	-	-	PARP9	ENST00000360356,p.P35S|NM_031458,p.P35S|NM_001146102,p.P35S|uc010hri.3,p.P35S|uc003efh.3,p.P35S	retained_intron, protein_coding	uc010hri.3	nonsynonymous SNV	exon3	c.C103T	p.P35S	SLLFQKVFAQIFPQWRKGNTEECLP	SLLFQKVFAQIFSQWRKGNTEECLP	6.0	10.0	-	-	3879_3:122277227-122277227 G>A_SLLFQKVFAQIFSQWRKGNTEECLP
13:29599064-29599064 G>A	0.0	3879	MELANOMA	-	-	-	-	MTUS2	NM_001033602,p.E87K|ENST00000431530,p.E87K|uc001usl.4,p.E87K	retained_intron, protein_coding, processed_transcript	uc001usl.4	nonsynonymous SNV	exon1	c.G259A	p.E87K	SSEPENRTHFHKEFHQLQGFGKGSQ	SSEPENRTHFHKKFHQLQGFGKGSQ	1.0	3.0	unscreened	-	3879_13:29599064-29599064 G>A_SSEPENRTHFHKKFHQLQGFGKGSQ
1:2538422-2538422 C>T	0.0	3879	MELANOMA	-	-	ID=COSM1686900;OCCURENCE=1(skin)	-	MMEL1	NM_033467,p.E208K|ENST00000378412,p.E208K|uc001ajy.2,p.E208K|ENST00000288709,p.E199K|ENST00000504800,p.E208K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ajy.2	nonsynonymous SNV	exon7	c.G622A	p.E208K	VGGWPVAMDRWNETVGLEWELERQL	VGGWPVAMDRWNKTVGLEWELERQL	2.0	7.0	unscreened	-	3879_1:2538422-2538422 C>T_VGGWPVAMDRWNKTVGLEWELERQL
15:33833085-33833085 G>A	0.0	3879	MELANOMA	-	-	ID=COSM960521;OCCURENCE=1(endometrium)	-	RYR3	ENST00000415757,p.E214K|uc010bar.3,p.E214K|NM_001036,p.E214K|ENST00000389232,p.E214K|uc001zhi.3,p.E214K|NM_001243996,p.E214K	retained_intron, protein_coding, processed_transcript	uc010bar.3	nonsynonymous SNV	exon7	c.G640A	p.E214K	WNVHPTCSGSSIEEGYLLGGHVVRL	WNVHPTCSGSSIKEGYLLGGHVVRL	1.0	9.0	unscreened	-	3879_15:33833085-33833085 G>A_WNVHPTCSGSSIKEGYLLGGHVVRL
14:20215608-20215608 A>G	0.0	3879	MELANOMA	-	-	-	-	OR4Q3	ENST00000331723,p.N8D|uc010tkt.2,p.N8D|NM_172194,p.N8D	protein_coding	uc010tkt.2	nonsynonymous SNV	exon1	c.A22G	p.N8D	MKKEQDSNVTEFVLLGLSSS	MKKEQDSDVTEFVLLGLSSS	1.0	5.0	unscreened	-	3879_14:20215608-20215608 A>G_MKKEQDSDVTEFVLLGLSSS
19:17049253-17049253 C>T	0.0	3879	MELANOMA	-	-	-	-	CPAMD8	uc002nfb.3,p.E980K|ENST00000443236,p.E980K|NM_015692,p.E980K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nfb.3	nonsynonymous SNV	exon23	c.G2938A	p.E980K	VDHVRRSVMVEAEGVPRAYTYSAFF	VDHVRRSVMVEAKGVPRAYTYSAFF	4.0	1.0	unscreened	-	3879_19:17049253-17049253 C>T_VDHVRRSVMVEAKGVPRAYTYSAFF
11:78516487-78516487 C>T	0.0	3879	MELANOMA	-	-	ID=COSM1719746,COSM1719745;OCCURENCE=2(NS)	-	TENM4	NM_001098816,p.E677K|uc001ozl.4,p.E677K|ENST00000278550,p.E677K	retained_intron, protein_coding, processed_transcript	uc001ozl.4	nonsynonymous SNV	exon15	c.G2029A	p.E677K	PTCSGRGVCVRGECHCSVGWGGTNC	PTCSGRGVCVRGKCHCSVGWGGTNC	2.0	2.0	unscreened	-	3879_11:78516487-78516487 C>T_PTCSGRGVCVRGKCHCSVGWGGTNC
10:134671236-134671236 G>A	0.0	3879	MELANOMA	-	-	-	-	CFAP46	uc021qbc.1,p.A1811V|NM_001200049,p.A1811V|ENST00000368586,p.A1811V	retained_intron, protein_coding	uc021qbc.1	nonsynonymous SNV	exon39	c.C5432T	p.A1811V	KDEEQKTAYYLEAYGLAQGAVAEEE	KDEEQKTAYYLEVYGLAQGAVAEEE	1.0	5.0	unscreened	-	3879_10:134671236-134671236 G>A_KDEEQKTAYYLEVYGLAQGAVAEEE
10:87487731-87487731 C>T	0.0	3879	MELANOMA	0.0005	-	-	-	GRID1	NM_017551,p.D472N|ENST00000327946,p.D472N|uc001kdl.1,p.D472N|ENST00000464741,p.D472N|ENST00000536331,p.D43N|uc010qmf.1,p.D43N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qmf.1	nonsynonymous SNV	exon3	c.G127A	p.D43N	PKRYKGFSIDVLDALAKALGFKYEI	PKRYKGFSIDVLNALAKALGFKYEI	2.0	3.0	unscreened	-	3879_10:87487731-87487731 C>T_PKRYKGFSIDVLNALAKALGFKYEI
X:23411644-23411644 G>A	0.0	3879	MELANOMA	-	-	-	-	PTCHD1	ENST00000379361,p.R670K|uc004dal.4,p.R670K|NM_173495,p.R670K	protein_coding	uc004dal.4	nonsynonymous SNV	exon3	c.G2009A	p.R670K	REELYDLLETLRRLSVTSKVKFIVF	REELYDLLETLRKLSVTSKVKFIVF	1.0	10.0	unscreened	-	3879_X:23411644-23411644 G>A_REELYDLLETLRKLSVTSKVKFIVF
3:193129999-193129999 C>T	0.0	3879	MELANOMA	-	-	-	-	ATP13A4	NM_032279,p.G1059E|uc003ftd.3,p.G1059E|ENST00000392443,p.G1040E|ENST00000400270,p.G75E|ENST00000342695,p.G1059E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ftd.3	nonsynonymous SNV	exon27	c.G3176A	p.G1059E	INCITVALVFSKGKPFRQPTYTNYI	INCITVALVFSKEKPFRQPTYTNYI	2.0	10.0	unscreened	-	3879_3:193129999-193129999 C>T_INCITVALVFSKEKPFRQPTYTNYI
8:55542534-55542534 G>A	0.0	3879	MELANOMA	-	-	-	-	RP1	ENST00000220676,p.R2031K|uc003xsd.1,p.R2031K|NM_006269,p.R2031K	protein_coding	uc003xsd.1	nonsynonymous SNV	exon4	c.G6092A	p.R2031K	GNLKKFQPDLKERFCMNFLHTSLLV	GNLKKFQPDLKEKFCMNFLHTSLLV	1.0	8.0	unscreened	-	3879_8:55542534-55542534 G>A_GNLKKFQPDLKEKFCMNFLHTSLLV
1:160789155-160789155 G>A	0.0	3879	MELANOMA	-	-	-	-	LY9	ENST00000368041,p.D367N|ENST00000263285,p.D497N|NM_001261457,p.D407N|uc001fwu.4,p.D497N|NM_002348,p.D497N|uc001fww.4,p.D407N	retained_intron, protein_coding, processed_transcript	uc001fww.4	nonsynonymous SNV	exon6	c.G1219A	p.D407N	PAFCSSQAEAPADTPEPTAGHTLYS	PAFCSSQAEAPANTPEPTAGHTLYS	1.0	7.0	unscreened	-	3879_1:160789155-160789155 G>A_PAFCSSQAEAPANTPEPTAGHTLYS
11:132081990-132081990 G>A	0.0	3879	MELANOMA	-	-	-	-	NTM	NM_016522,p.A159T|uc001qgp.3,p.A159T|uc010sch.2,p.A150T|uc001qgo.3,p.A159T|ENST00000539799,p.A159T|NM_001048209,p.A159T|ENST00000550167,p.A150T|ENST00000427481,p.A150T|ENST00000374786,p.A159T|uc001qgq.3,p.A159T|ENST00000374791,p.A159T|uc010sci.2,p.A159T|uc001qgm.3,p.A159T|NM_001144059,p.A159T|ENST00000425719,p.A159T|NM_001144058,p.A159T|ENST00000374784,p.A159T|uc010scj.2,p.A118T	retained_intron, protein_coding, processed_transcript	uc010scj.2	nonsynonymous SNV	exon4	c.G352A	p.A118T	INEGNNISLTCIATGRPEPTVTWRH	INEGNNISLTCITTGRPEPTVTWRH	3.0	10.0	unscreened	-	3879_11:132081990-132081990 G>A_INEGNNISLTCITTGRPEPTVTWRH
1:171254561-171254561 G>A	0.0	3879	MELANOMA	-	-	-	-	FMO1	uc009wvz.3,p.D493N|NM_001282693,p.D493N|ENST00000354841,p.D493N|ENST00000367750,p.D493N|NM_001282694,p.D430N|uc001ghl.3,p.D493N|NM_002021,p.D493N|NM_001282692,p.D497N|ENST00000402921,p.D430N|uc010pme.2,p.D430N|uc001ghm.3,p.D493N	protein_coding, processed_transcript	uc010pme.2	nonsynonymous SNV	exon8	c.G1288A	p.D430N	WEGARNAIMTQWDRTFKVIKARVVQ	WEGARNAIMTQWNRTFKVIKARVVQ	2.0	8.0	unscreened	-	3879_1:171254561-171254561 G>A_WEGARNAIMTQWNRTFKVIKARVVQ
15:101906461-101906461 C>T	0.0	3879	MELANOMA	-	-	-	-	PCSK6	ENST00000331826,p.G434R|ENST00000398185,p.G428R|ENST00000358417,p.G599R|ENST00000348070,p.G599R|ENST00000398181,p.G599R|ENST00000344273,p.G599R|uc010bpd.3,p.G396R	retained_intron, protein_coding, processed_transcript	uc010bpd.3	nonsynonymous SNV	exon10	c.G1186A	p.G396R	FMTVHCWGEKAEGQWTLEIQDLPSQ	FMTVHCWGEKAERQWTLEIQDLPSQ	3.0	3.0	unscreened	-	3879_15:101906461-101906461 C>T_FMTVHCWGEKAERQWTLEIQDLPSQ
2:49191076-49191076 G>A	0.0	3879	MELANOMA	-	-	-	-	FSHR	ENST00000454032,p.S233F|uc002rwx.3,p.S233F|ENST00000346173,p.S233F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002rwx.3	nonsynonymous SNV	exon9	c.C698T	p.S233F	VILSELHPICNKSILRQEVDYMTQA	VILSELHPICNKFILRQEVDYMTQA	1.0	5.0	unscreened	-	3879_2:49191076-49191076 G>A_VILSELHPICNKFILRQEVDYMTQA
6:155458470-155458470 G>A	0.0	3879	MELANOMA	-	-	-	-	TIAM2	ENST00000360366,p.D452N|ENST00000528535,p.D452N|ENST00000456144,p.D452N|ENST00000461783,p.D452N|uc003qqe.3,p.D452N|NM_012454,p.D452N|ENST00000529824,p.D452N|uc003qqb.3,p.D452N|ENST00000318981,p.D452N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003qqe.3	nonsynonymous SNV	exon4	c.G1354A	p.D452N	SQRSESTHAIGSDPLRQNIYENFMR	SQRSESTHAIGSNPLRQNIYENFMR	6.0	5.0	unscreened	-	3879_6:155458470-155458470 G>A_SQRSESTHAIGSNPLRQNIYENFMR
15:79265645-79265645 C>T	0.0	3879	MELANOMA	-	-	-	-	RASGRF1	ENST00000558480,p.M1204I|ENST00000394745,p.M436I|uc002beo.3,p.M436I|NM_002891,p.M1220I|NM_153815,p.M436I|uc002beq.3,p.M1220I|ENST00000419573,p.M1220I|NM_001145648,p.M1204I|uc002bep.3,p.M1204I	retained_intron, protein_coding, processed_transcript, TEC	uc002beq.3	nonsynonymous SNV	exon26	c.G3660A	p.M1220I	TEDGLVNFSKMRMISHIIREIRQFQ	TEDGLVNFSKMRIISHIIREIRQFQ	1.0	4.0	unscreened	-	3879_15:79265645-79265645 C>T_TEDGLVNFSKMRIISHIIREIRQFQ
11:108277546-108277546 G>A	0.0	3879	MELANOMA	-	-	-	-	C11orf65	uc001pkh.3,p.H125Y|ENST00000529391,p.H125Y|NM_152587,p.H125Y|ENST00000525729,p.H76Y|ENST00000533583,p.H107Y|ENST00000527531,p.H125Y|ENST00000393084,p.H125Y|uc010rvx.1,p.H76Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc010rvx.1	nonsynonymous SNV	exon3	c.C226T	p.H76Y	SHNKNDHLQEEDHSGWYHRIENNGW	SHNKNDHLQEEDYSGWYHRIENNGW	2.0	10.0	unscreened	-	3879_11:108277546-108277546 G>A_SHNKNDHLQEEDYSGWYHRIENNGW
16:9934887-9934887 G>A	0.0	3879	MELANOMA	-	-	-	1	GRIN2A	ENST00000396575,p.S468F|uc002czo.4,p.S468F|ENST00000535259,p.S311F|ENST00000396573,p.S468F|uc010uyn.2,p.S311F|NM_001134408,p.S468F|NM_001134407,p.S468F|ENST00000330684,p.S468F|ENST00000562109,p.S468F|ENST00000404927,p.S468F|uc010uym.2,p.S468F|uc002czr.4,p.S468F|NM_000833,p.S468F	retained_intron, protein_coding, processed_transcript	uc010uyn.2	nonsynonymous SNV	exon5	c.C932T	p.S311F	CKGFCIDILKKLSRTVKFTYDLYLV	CKGFCIDILKKLFRTVKFTYDLYLV	1.0	3.0	unscreened	-	3879_16:9934887-9934887 G>A_CKGFCIDILKKLFRTVKFTYDLYLV
6:157505561-157505561 C>T	1.0	3879	MELANOMA	-	-	-	1	ARID1B	ENST00000400790,p.P235L	retained_intron, protein_coding, processed_transcript	ENST00000400790	nonsynonymous SNV	exon5	c.C704T	p.P235L	TGDTKKQPKLQPPSPGKWRRCSHWP	TGDTKKQPKLQPLSPGKWRRCSHWP	9.0	2.0	-	-	3879_6:157505561-157505561 C>T_TGDTKKQPKLQPLSPGKWRRCSHWP
11:93127766-93127766 G>A	0.0	3879	MELANOMA	-	-	-	-	CCDC67	ENST00000298050,p.E395K|NM_181645,p.E395K|uc001pdq.3,p.E395K|uc001pdo.1,p.E395K|ENST00000525646,p.E137K|ENST00000531448,p.E395K|ENST00000534747,p.E395K|uc001pdp.3,p.E395K	protein_coding, processed_transcript, nonsense_mediated_decay	uc001pdq.3	nonsynonymous SNV	exon10	c.G1183A	p.E395K	TIATVTKKAALLEKQLKMELEIKEK	TIATVTKKAALLKKQLKMELEIKEK	1.0	10.0	unscreened	-	3879_11:93127766-93127766 G>A_TIATVTKKAALLKKQLKMELEIKEK
17:74005249-74005249 G>A	0.0	3879	MELANOMA	-	-	-	-	EVPL	NM_001988,p.A1346V|ENST00000301607,p.A1346V|uc002jqi.2,p.A1346V|ENST00000586740,p.A1368V|uc010wss.1,p.A1368V|uc010wst.1,p.A816V	retained_intron, protein_coding	uc010wst.1	nonsynonymous SNV	exon20	c.C2447T	p.A816V	RQEVREAAQKRRAAEDAVYELQSKR	RQEVREAAQKRRVAEDAVYELQSKR	1.0	2.0	unscreened	-	3879_17:74005249-74005249 G>A_RQEVREAAQKRRVAEDAVYELQSKR
3:111312790-111312790 G>A	0.0	3879	MELANOMA	0.0005	-	-	-	ZBED2	uc021xci.1,p.R87C|uc003dxy.3,p.R87C|ENST00000317012,p.R87C|NM_024508,p.R87C	protein_coding	uc021xci.1	nonsynonymous SNV	exon1	c.C259T	p.R87C	YATCRLCGRQVSRGPGVNVGTTALW	YATCRLCGRQVSCGPGVNVGTTALW	1.0	10.0	unscreened	-	3879_3:111312790-111312790 G>A_YATCRLCGRQVSCGPGVNVGTTALW
11:93815599-93815599 G>A	0.0	3879	MELANOMA	-	-	-	-	HEPHL1	ENST00000315765,p.E578K|NM_001098672,p.E578K|uc001pep.2,p.E578K	protein_coding	uc001pep.2	nonsynonymous SNV	exon10	c.G1732A	p.E578K	LNADGTQKGIDKEFYLLFTVFDENL	LNADGTQKGIDKKFYLLFTVFDENL	1.0	10.0	unscreened	-	3879_11:93815599-93815599 G>A_LNADGTQKGIDKKFYLLFTVFDENL
19:17000549-17000549 T>G	0.0	3879	MELANOMA	-	-	-	-	F2RL3	ENST00000248076,p.L92R|NM_003950,p.L92R|uc002nfa.3,p.L92R	protein_coding	uc002nfa.3	nonsynonymous SNV	exon2	c.T275G	p.L92R	VPALYGLVLVVGLPANGLALWVLAT	VPALYGLVLVVGRPANGLALWVLAT	1.0	1.0	unscreened	-	3879_19:17000549-17000549 T>G_VPALYGLVLVVGRPANGLALWVLAT
3:49690042-49690042 A>T	0.0	3879	MELANOMA	-	-	-	-	BSN	ENST00000296452,p.E1018V|uc003cxe.4,p.E1018V|NM_003458,p.E1018V	retained_intron, protein_coding	uc003cxe.4	nonsynonymous SNV	exon5	c.A3053T	p.E1018V	SDSSPSRRQRLEEAKQQRKARHRSH	SDSSPSRRQRLEVAKQQRKARHRSH	1.0	10.0	unscreened	-	3879_3:49690042-49690042 A>T_SDSSPSRRQRLEVAKQQRKARHRSH
19:4200159-4200159 G>A	0.0	3879	MELANOMA	-	-	-	-	ANKRD24	ENST00000262970,p.D202N|NM_133475,p.D112N|uc002lzt.2,p.D84N|ENST00000600132,p.D112N|uc010dtt.1,p.D112N|ENST00000597689,p.D83N|ENST00000318934,p.D112N|uc002lzs.2,p.D83N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dtt.1	nonsynonymous SNV	exon5	c.G334A	p.D112N	VMIAHGSNVMSADGAGYNALHLAAK	VMIAHGSNVMSANGAGYNALHLAAK	1.0	1.0	unscreened	-	3879_19:4200159-4200159 G>A_VMIAHGSNVMSANGAGYNALHLAAK
12:13717044-13717044 G>A	0.0	3879	MELANOMA	-	-	-	-	GRIN2B	ENST00000279593,p.S1043F|uc001rbt.2,p.S1043F|NM_000834,p.S1043F	protein_coding	uc001rbt.2	nonsynonymous SNV	exon13	c.C3128T	p.S1043F	KHSQLSDLYGKFSFKSDRYSGHDDL	KHSQLSDLYGKFFFKSDRYSGHDDL	1.0	8.0	unscreened	-	3879_12:13717044-13717044 G>A_KHSQLSDLYGKFFFKSDRYSGHDDL
20:40944584-40944584 C>T	0.0	3879	MELANOMA	-	-	-	1	PTPRT	ENST00000373193,p.A640T|ENST00000373184,p.A640T|ENST00000373187,p.A640T|ENST00000373201,p.A640T|uc010ggj.3,p.A640T|NM_133170,p.A640T|ENST00000356100,p.A640T|ENST00000373190,p.A640T|ENST00000373198,p.A640T|NM_007050,p.A640T|uc002xkg.3,p.A640T	protein_coding, processed_transcript	uc010ggj.3	nonsynonymous SNV	exon12	c.G1918A	p.A640T	VKEERLQKSRRAADIIECFSVPVSY	VKEERLQKSRRATDIIECFSVPVSY	1.0	8.0	unscreened	-	3879_20:40944584-40944584 C>T_VKEERLQKSRRATDIIECFSVPVSY
18:50278588-50278588 G>A	0.0	3879	MELANOMA	-	-	-	2	DCC	ENST00000581559,p.D18N|uc002lfe.2,p.D86N|ENST00000582875,p.D20N|NM_005215,p.D86N|ENST00000442544,p.D86N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lfe.2	nonsynonymous SNV	exon2	c.G256A	p.D86N	WKKDGIHLALGMDERKQQLSNGSLL	WKKDGIHLALGMNERKQQLSNGSLL	1.0	10.0	unscreened	-	3879_18:50278588-50278588 G>A_WKKDGIHLALGMNERKQQLSNGSLL
15:51676081-51676081 G>A	0.0	3879	MELANOMA	-	-	ID=COSM1708166;OCCURENCE=1(skin)	-	GLDN	NM_181789,p.G178E|ENST00000558426,p.G64E|uc002aba.3,p.G178E|ENST00000335449,p.G178E|ENST00000396399,p.G54E|uc002abb.3,p.G54E	retained_intron, protein_coding	uc002abb.3	nonsynonymous SNV	exon4	c.G161A	p.G54E	GPKGEKGANGKRGKMGIPGAAGNPG	GPKGEKGANGKREKMGIPGAAGNPG	1.0	9.0	unscreened	-	3879_15:51676081-51676081 G>A_GPKGEKGANGKREKMGIPGAAGNPG
6:52698962-52698962 G>A	0.0	3879	MELANOMA	-	-	-	-	GSTA5	ENST00000284562,p.R131C|uc003pba.1,p.R131C|NM_153699,p.R131C|ENST00000370989,p.R131C	protein_coding, processed_transcript	uc003pba.1	nonsynonymous SNV	exon5	c.C391T	p.R131C	AKTALVKEKIKNRYFPAFEKVLKSH	AKTALVKEKIKNCYFPAFEKVLKSH	1.0	1.0	unscreened	-	3879_6:52698962-52698962 G>A_AKTALVKEKIKNCYFPAFEKVLKSH
2:21236331-21236331 G>A	0.0	3879	MELANOMA	-	-	-	-	APOB	uc002red.3,p.S1306F|NM_000384,p.S1306F|ENST00000233242,p.S1306F	protein_coding	uc002red.3	nonsynonymous SNV	exon25	c.C3917T	p.S1306F	LKIEIPLPFGGKSSRDLKMLETVRT	LKIEIPLPFGGKFSRDLKMLETVRT	1.0	9.0	unscreened	-	3879_2:21236331-21236331 G>A_LKIEIPLPFGGKFSRDLKMLETVRT
14:20528506-20528506 G>T	0.0	3879	MELANOMA	-	-	-	-	OR4L1	ENST00000315683,p.M101I|NM_001004717,p.M101I|uc001vwn.1,p.M101I	protein_coding	uc001vwn.1	nonsynonymous SNV	exon1	c.G303T	p.M101I	HKTISVWGCVTQMFFMHFFGGAEMT	HKTISVWGCVTQIFFMHFFGGAEMT	1.0	8.0	unscreened	-	3879_14:20528506-20528506 G>T_HKTISVWGCVTQIFFMHFFGGAEMT
6:35705069-35705069 G>A	0.0	3879	MELANOMA	-	-	-	-	ARMC12	ENST00000288065,p.E62K|uc003ola.3,p.E62K|NM_145028,p.E62K	protein_coding, nonsense_mediated_decay	uc003ola.3	nonsynonymous SNV	exon1	c.G184A	p.E62K	PICIARECPGPGERALPQEAPAPEA	PICIARECPGPGKRALPQEAPAPEA	3.0	2.0	unscreened	-	3879_6:35705069-35705069 G>A_PICIARECPGPGKRALPQEAPAPEA
19:46800344-46800344 G>A	0.0	3879	MELANOMA	-	-	-	-	HIF3A	uc002peh.3,p.G4E|uc002pef.2,p.G4E|uc002peg.4,p.G4E|ENST00000377670,p.G4E|ENST00000533789,p.G4E|NM_152795,p.G4E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002peh.3	nonsynonymous SNV	exon1	c.G11A	p.G4E	MALGLQRARSTTELRK	MALELQRARSTTELRK	2.0	8.0	unscreened	-	3879_19:46800344-46800344 G>A_MALELQRARSTTELRK
12:52863629-52863629 C>T	0.0	3879	MELANOMA	-	-	-	-	KRT6C	ENST00000252250,p.E417K|NM_173086,p.E417K|uc001sal.4,p.E417K	retained_intron, protein_coding	uc001sal.4	nonsynonymous SNV	exon7	c.G1249A	p.E417K	LQAAIADAEQRGEMALKDAKNKLEG	LQAAIADAEQRGKMALKDAKNKLEG	1.0	5.0	unscreened	-	3879_12:52863629-52863629 C>T_LQAAIADAEQRGKMALKDAKNKLEG
1:6202222-6202222 G>A	0.0	3879	MELANOMA	-	-	-	-	CHD5	uc001amb.2,p.A801V|ENST00000262450,p.A801V|ENST00000496404,p.A801V|NM_015557,p.A801V	protein_coding, nonsense_mediated_decay	uc001amb.2	nonsynonymous SNV	exon15	c.C2402T	p.A801V	VIRENEFSFEDNAIRSGKKVFRMKK	VIRENEFSFEDNVIRSGKKVFRMKK	1.0	4.0	unscreened	-	3879_1:6202222-6202222 G>A_VIRENEFSFEDNVIRSGKKVFRMKK
10:131665458-131665458 G>A	0.0	3879	MELANOMA	-	-	-	-	EBF3	uc001lki.2,p.S320F|NM_001005463,p.S320F|ENST00000355311,p.S329F|uc021qav.2,p.S320F|ENST00000368648,p.S320F	protein_coding, processed_transcript	uc021qav.2	nonsynonymous SNV	exon10	c.C959T	p.S320F	PRHIPGVVEVTLSYKSKQFCKGAPG	PRHIPGVVEVTLFYKSKQFCKGAPG	3.0	7.0	unscreened	-	3879_10:131665458-131665458 G>A_PRHIPGVVEVTLFYKSKQFCKGAPG
16:3544716-3544716 C>T	0.0	3879	MELANOMA	-	-	-	-	C16orf90	ENST00000437192,p.E70K|NM_001080524,p.E70K|uc002cvi.3,p.E70K	protein_coding	uc002cvi.3	nonsynonymous SNV	exon2	c.G208A	p.E70K	RLRHLRGLGLYLESHPPPTGQCESH	RLRHLRGLGLYLKSHPPPTGQCESH	1.0	1.0	unscreened	-	3879_16:3544716-3544716 C>T_RLRHLRGLGLYLKSHPPPTGQCESH
8:55539683-55539683 G>A	0.0	3879	MELANOMA	-	-	-	-	RP1	uc003xsd.1,p.D1081N|NM_006269,p.D1081N|ENST00000220676,p.D1081N	protein_coding	uc003xsd.1	nonsynonymous SNV	exon4	c.G3241A	p.D1081N	IQVDPIEEETPKDLLPVLMLHQLQA	IQVDPIEEETPKNLLPVLMLHQLQA	1.0	4.0	unscreened	-	3879_8:55539683-55539683 G>A_IQVDPIEEETPKNLLPVLMLHQLQA
3:36485078-36485078 G>A	0.0	3879	MELANOMA	-	-	-	-	STAC	uc003cgh.1,p.E112K|uc011aya.1,p.E112K|ENST00000273183,p.E112K|ENST00000457375,p.E112K|ENST00000434649,p.E101K|NM_001292049,p.E112K|NM_003149,p.E112K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011aya.1	nonsynonymous SNV	exon2	c.G334A	p.E112K	GLHPGGKAHAFQEYIFKKPTFCDVC	GLHPGGKAHAFQKYIFKKPTFCDVC	1.0	10.0	unscreened	-	3879_3:36485078-36485078 G>A_GLHPGGKAHAFQKYIFKKPTFCDVC
5:140731113-140731113 C>T	0.0	3879	MELANOMA	-	-	-	-	PCDHGB1	ENST00000523390,p.S429F|uc011daq.2,p.S429F|NM_018922,p.S429F|uc003ljo.2,p.S429F|NM_032095,p.S429F	protein_coding	uc011daq.2	nonsynonymous SNV	exon1	c.C1286T	p.S429F	TIIATDKGKPALSSRTSITLHISDI	TIIATDKGKPALFSRTSITLHISDI	3.0	4.0	unscreened	-	3879_5:140731113-140731113 C>T_TIIATDKGKPALFSRTSITLHISDI
11:6953603-6953603 G>A	0.0	3879	MELANOMA	-	-	-	-	ZNF215	uc001mez.1,p.E34K|ENST00000414517,p.E34K|ENST00000278319,p.E34K|NM_013250,p.E34K|uc001mey.3,p.E34K|ENST00000529903,p.E34K	protein_coding, processed_transcript	uc001mez.1	nonsynonymous SNV	exon1	c.G100A	p.E34K	REVLRADMSWQQETNPVVETHDSEA	REVLRADMSWQQKTNPVVETHDSEA	1.0	10.0	unscreened	-	3879_11:6953603-6953603 G>A_REVLRADMSWQQKTNPVVETHDSEA
7:55874943-55874943 C>T	0.0	3879	MELANOMA	-	-	-	-	SEPT14	uc003tqz.2,p.E276K|NM_207366,p.E276K|ENST00000388975,p.E276K	protein_coding, processed_transcript	uc003tqz.2	nonsynonymous SNV	exon8	c.G826A	p.E276K	RHYPWGVLQVENENHCDFVKLRDML	RHYPWGVLQVENKNHCDFVKLRDML	1.0	9.0	unscreened	-	3879_7:55874943-55874943 C>T_RHYPWGVLQVENKNHCDFVKLRDML
19:54783383-54783383 C>T	0.0	3879	MELANOMA	-	-	-	-	LILRB2	NM_001278405,p.G159R|NM_001278406,p.G159R|NM_005874,p.G159R|NM_001278403,p.G159R|NM_001080978,p.G159R|NM_001278404,p.G43R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	NM_005874	nonsynonymous SNV	exon5	c.G475A	p.G159R	QVAFGGFILCKEGEDEHPQCLNSQP	QVAFGGFILCKEREDEHPQCLNSQP	1.0	5.0	unscreened	-	3879_19:54783383-54783383 C>T_QVAFGGFILCKEREDEHPQCLNSQP
3:50416599-50416599 A>C	0.0	3879	MELANOMA	-	-	-	-	CACNA2D2	ENST00000429770,p.M395R|uc003daq.3,p.M395R|uc003dap.3,p.M395R|ENST00000424201,p.M395R|ENST00000479441,p.M395R|ENST00000395083,p.M395R|ENST00000435965,p.M395R|ENST00000423994,p.M395R|ENST00000360963,p.M326R|NM_001174051,p.M395R|NM_006030,p.M395R|ENST00000266039,p.M395R|NM_001005505,p.M395R|NM_001291101,p.M326R	retained_intron, protein_coding, processed_transcript	uc003daq.3	nonsynonymous SNV	exon12	c.T1184G	p.M395R	QNSNITRANCNKMIMMFTDGGEDRV	QNSNITRANCNKRIMMFTDGGEDRV	1.0	9.0	unscreened	-	3879_3:50416599-50416599 A>C_QNSNITRANCNKRIMMFTDGGEDRV
X:151303948-151303948 G>A	0.0	3879	MELANOMA	-	-	-	-	MAGEA10	NM_001011543,p.P49S|ENST00000244096,p.P49S|ENST00000583480,p.P49S|uc004ffk.3,p.P49S|uc022cgz.1,p.P49S|uc004ffm.2,p.P49S|ENST00000427322,p.P49S|uc004ffl.3,p.P49S|NM_021048,p.P49S|ENST00000370323,p.P49S|ENST00000444834,p.P49S|NM_001251828,p.P49S	protein_coding	uc022cgz.1	nonsynonymous SNV	exon1	c.C145T	p.P49S	DASSSTSTSSSFPSSFPSSSSSSSS	DASSSTSTSSSFSSSFPSSSSSSSS	1.0	10.0	unscreened	-	3879_X:151303948-151303948 G>A_DASSSTSTSSSFSSSFPSSSSSSSS
16:81965255-81965255 C>T	0.0	3879	MELANOMA	-	-	-	-	PLCG2	uc002fgt.3,p.T912I|ENST00000359376,p.T912I|NM_002661,p.T912I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002fgt.3	nonsynonymous SNV	exon25	c.C2735T	p.T912I	FQSIREITWKIDTKENNMKYWEKNQ	FQSIREITWKIDIKENNMKYWEKNQ	4.0	2.0	unscreened	-	3879_16:81965255-81965255 C>T_FQSIREITWKIDIKENNMKYWEKNQ
1:167097262-167097262 C>T	0.0	3879	MELANOMA	-	-	-	-	DUSP27	ENST00000443333,p.S965L|ENST00000271385,p.S965L|NM_001080426,p.S965L|uc001geb.1,p.S965L|ENST00000361200,p.S965L	protein_coding, processed_transcript	uc001geb.1	nonsynonymous SNV	exon5	c.C2894T	p.S965L	DWSGSSRGKYTRSSLLRETESKSSS	DWSGSSRGKYTRLSLLRETESKSSS	1.0	1.0	unscreened	-	3879_1:167097262-167097262 C>T_DWSGSSRGKYTRLSLLRETESKSSS
19:14150607-14150607 C>T	0.0	3879	MELANOMA	-	-	-	-	IL27RA	uc002mxx.4,p.S140F|ENST00000263379,p.S140F|NM_004843,p.S140F	protein_coding	uc002mxx.4	nonsynonymous SNV	exon4	c.C419T	p.S140F	PNAPRLGPDVDFSEDDPLEATVHWA	PNAPRLGPDVDFFEDDPLEATVHWA	1.0	1.0	unscreened	-	3879_19:14150607-14150607 C>T_PNAPRLGPDVDFFEDDPLEATVHWA
13:96086223-96086223 G>A	0.0	3879	MELANOMA	-	-	-	-	CLDN10	uc001vmg.2,p.G46S|ENST00000376873,p.G46S|NM_182848,p.G46S	protein_coding	uc001vmg.2	nonsynonymous SNV	exon1	c.G136A	p.G46S	ASSVITATWVYQGLWMNCAGNALGS	ASSVITATWVYQSLWMNCAGNALGS	1.0	1.0	unscreened	-	3879_13:96086223-96086223 G>A_ASSVITATWVYQSLWMNCAGNALGS
17:534807-534807 G>A	1.0	3879	MELANOMA	-	-	-	-	VPS53	uc002frm.2,p.P195S|uc010cjo.2,p.P224S|NM_018289,p.P195S|uc002frn.2,p.P224S|ENST00000571805,p.P224S|NM_001128159,p.P224S|uc002fro.2,p.P26S|ENST00000446250,p.P26S|ENST00000437048,p.P224S|ENST00000291074,p.P195S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cjo.2	nonsynonymous SNV	exon8	c.C670T	p.P224S	GQQILADFEEAFPSQGTKRPGGPSN	GQQILADFEEAFSSQGTKRPGGPSN	8.0	9.0	-	-	3879_17:534807-534807 G>A_GQQILADFEEAFSSQGTKRPGGPSN
17:58571953-58571953 C>G	1.0	3879	MELANOMA	-	-	-	-	APPBP2	ENST00000588668,p.R94S	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000588668	nonsynonymous SNV	exon4	c.G282C	p.R94S	SKSFDICFIIVFRL	SKSFDICFIIVFSL	8.0	7.0	unscreened	-	3879_17:58571953-58571953 C>G_SKSFDICFIIVFSL
19:22364370-22364370 G>A	0.0	3879	MELANOMA	-	-	-	-	ZNF676	ENST00000397121,p.S50F|uc002nqs.1,p.S50F|NM_001001411,p.S50F	protein_coding	uc002nqs.1	nonsynonymous SNV	exon3	c.C149T	p.S50F	MVEEPPVICSHFSQEFWPEQGIEDS	MVEEPPVICSHFFQEFWPEQGIEDS	3.0	2.0	unscreened	-	3879_19:22364370-22364370 G>A_MVEEPPVICSHFFQEFWPEQGIEDS
22:37334044-37334044 C>T	0.0	3879	MELANOMA	-	-	-	-	CSF2RB	NM_000395,p.P732S|ENST00000262825,p.P738S|uc003aqc.4,p.P738S|ENST00000406230,p.P738S|ENST00000536485,p.P679S|uc003aqa.4,p.P732S|ENST00000403662,p.P732S	protein_coding	uc003aqc.4	nonsynonymous SNV	exon13	c.C2212T	p.P738S	TPNSGASSVSLVPSLGLPSDQTPSL	TPNSGASSVSLVSSLGLPSDQTPSL	1.0	2.0	unscreened	-	3879_22:37334044-37334044 C>T_TPNSGASSVSLVSSLGLPSDQTPSL
5:111519713-111519713 G>A	0.0	3879	MELANOMA	-	-	ID=COSM260696,COSM260695;OCCURENCE=1(large_intestine)	-	EPB41L4A	uc003kpv.1,p.S541L|ENST00000261486,p.S541L|uc003kpp.1,p.S168L|NM_022140,p.S541L	retained_intron, protein_coding, processed_transcript	uc003kpv.1	nonsynonymous SNV	exon18	c.C1622T	p.S541L	DPNNRRSRHRSRSRSPDIQAKEELW	DPNNRRSRHRSRLRSPDIQAKEELW	3.0	2.0	unscreened	-	3879_5:111519713-111519713 G>A_DPNNRRSRHRSRLRSPDIQAKEELW
20:40790150-40790150 T>G	0.0	3879	MELANOMA	-	-	-	1	PTPRT	ENST00000373190,p.T841P	protein_coding, processed_transcript	ENST00000373190	nonsynonymous SNV	exon17	c.A2521C	p.T841P	GFNGSRGELSQPTLTIQTHPYRTCD	GFNGSRGELSQPPLTIQTHPYRTCD	1.0	3.0	unscreened	-	3879_20:40790150-40790150 T>G_GFNGSRGELSQPPLTIQTHPYRTCD
20:40790150-40790150 T>G	0.0	3879	MELANOMA	-	-	-	1	PTPRT	uc002xkg.3,p.T842P|NM_133170,p.T861P|ENST00000373193,p.T845P|ENST00000373201,p.T832P|ENST00000373198,p.T864P|ENST00000373187,p.T842P|ENST00000356100,p.T851P|NM_007050,p.T842P|ENST00000373184,p.T832P|uc010ggj.3,p.T861P|uc010ggi.3,p.T45P	protein_coding, processed_transcript	uc010ggj.3	nonsynonymous SNV	exon18	c.A2581C	p.T861P	FTDGSRGELSQPTLTIQTHPYRTCD	FTDGSRGELSQPPLTIQTHPYRTCD	1.0	3.0	unscreened	-	3879_20:40790150-40790150 T>G_FTDGSRGELSQPPLTIQTHPYRTCD
14:74409395-74409395 G>A	0.0	3879	MELANOMA	0.0046	-	-	-	FAM161B	uc001xpd.3,p.R380C|ENST00000286544,p.R380C|ENST00000534936,p.R317C|NM_152445,p.R380C	protein_coding	uc001xpd.3	nonsynonymous SNV	exon4	c.C1138T	p.R380C	DKLQEAELFRKIRIQMRALDMLQMA	DKLQEAELFRKICIQMRALDMLQMA	4.0	7.0	unscreened	-	3879_14:74409395-74409395 G>A_DKLQEAELFRKICIQMRALDMLQMA
18:14763962-14763962 A>T	0.0	3879	MELANOMA	-	-	-	-	ANKRD30B	ENST00000358984,p.K366N|NM_001145029,p.K366N|ENST00000580206,p.K366N|uc010dlo.2,p.K366N|uc021uhy.1,p.K366N|ENST00000447268,p.K366N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021uhy.1	nonsynonymous SNV	exon7	c.A1098T	p.K366N	AKERSRKITWEEKETSVKTECVAGV	AKERSRKITWEENETSVKTECVAGV	4.0	10.0	unscreened	-	3879_18:14763962-14763962 A>T_AKERSRKITWEENETSVKTECVAGV
19:36278421-36278421 C>A	0.0	3879	MELANOMA	-	-	-	-	ARHGAP33	ENST00000007510,p.P985H|uc002obt.2,p.P849H|uc002obv.1,p.P573H|NM_052948,p.P824H|NM_001172630,p.P849H|ENST00000378944,p.P849H|ENST00000314737,p.P824H|uc002obs.2,p.P824H	retained_intron, protein_coding, processed_transcript	uc002obv.1	nonsynonymous SNV	exon8	c.C1718A	p.P573H	QQSDGSLLRSQRPMGTSRRGLRGPA	QQSDGSLLRSQRHMGTSRRGLRGPA	6.0	4.0	unscreened	-	3879_19:36278421-36278421 C>A_QQSDGSLLRSQRHMGTSRRGLRGPA
16:28925694-28925694 G>A	1.0	3879	MELANOMA	-	-	-	-	RABEP2	ENST00000357573,p.R253C|uc010vdf.2,p.R182C|uc002drq.3,p.R253C|uc010byn.3,p.R253C|ENST00000567483,p.R243C|ENST00000358201,p.R253C|ENST00000568703,p.R200C|uc002drr.3,p.R253C|NM_024816,p.R253C|ENST00000544477,p.R182C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vdf.2	nonsynonymous SNV	exon4	c.C544T	p.R182C	GGVGSSSSLPQSRQGLSPEQEETAS	GGVGSSSSLPQSCQGLSPEQEETAS	6.0	9.0	-	-	3879_16:28925694-28925694 G>A_GGVGSSSSLPQSCQGLSPEQEETAS
7:134260573-134260573 G>A	0.0	3879	MELANOMA	-	-	-	-	AKR1B15	ENST00000457545,p.V213I|NM_001080538,p.V213I|ENST00000423958,p.V185I|uc011kpr.2,p.V213I	retained_intron, protein_coding	uc011kpr.2	nonsynonymous SNV	exon8	c.G637A	p.V213I	KPGLKYKPVTNQVECHPYLTQEKLI	KPGLKYKPVTNQIECHPYLTQEKLI	1.0	7.0	unscreened	-	3879_7:134260573-134260573 G>A_KPGLKYKPVTNQIECHPYLTQEKLI
1:155726757-155726757 G>A	1.0	3879	MELANOMA	-	-	-	-	GON4L	uc001fly.1,p.H1837Y|uc001flz.2,p.H1837Y|NM_001282860,p.H1837Y|NM_001282858,p.H1837Y|uc001fmb.4,p.H1033Y|ENST00000368331,p.H1837Y|uc009wrh.1,p.H1837Y|ENST00000271883,p.H1837Y|ENST00000437809,p.H1837Y|NM_001282856,p.H1837Y|uc001fma.1,p.H1837Y	retained_intron, protein_coding, processed_transcript	uc009wrh.1	nonsynonymous SNV	exon27	c.C5509T	p.H1837Y	KNKRKKEIGVQNHDKETEWPDGAKD	KNKRKKEIGVQNYDKETEWPDGAKD	10.0	8.0	-	-	3879_1:155726757-155726757 G>A_KNKRKKEIGVQNYDKETEWPDGAKD
19:53770230-53770230 C>T	0.0	3879	MELANOMA	-	-	-	-	VN1R4	NM_173857,p.R230K|ENST00000311170,p.R230K|uc010ydu.2,p.R230K	protein_coding	uc010ydu.2	nonsynonymous SNV	exon1	c.G689A	p.R230K	RSNLSPRASPENRATQSILILVSTF	RSNLSPRASPENKATQSILILVSTF	1.0	2.0	unscreened	-	3879_19:53770230-53770230 C>T_RSNLSPRASPENKATQSILILVSTF
22:37492688-37492688 C>T	0.0	3879	MELANOMA	-	-	-	-	TMPRSS6	ENST00000346753,p.G144E|uc003aqs.1,p.G144E|NM_001289001,p.G135E|NM_153609,p.G144E|uc003aqu.3,p.G135E|ENST00000442782,p.G144E|ENST00000381792,p.G135E|ENST00000406725,p.G135E|NM_001289000,p.G135E|uc003aqt.1,p.G135E|ENST00000406856,p.G135E	protein_coding	uc003aqu.3	nonsynonymous SNV	exon4	c.G404A	p.G135E	GTYYNSSSVYSFGEGPLTCFFWFIL	GTYYNSSSVYSFEEGPLTCFFWFIL	1.0	2.0	unscreened	-	3879_22:37492688-37492688 C>T_GTYYNSSSVYSFEEGPLTCFFWFIL
16:67235751-67235751 G>A	0.0	3879	MELANOMA	-	-	-	-	ELMO3	uc002esa.3,p.R395Q|uc002esb.3,p.R378Q|ENST00000360833,p.R378Q|ENST00000477898,p.R229Q|NM_024712,p.R395Q|ENST00000393997,p.R395Q|uc002esc.3,p.R229Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc002esc.3	nonsynonymous SNV	exon10	c.G686A	p.R229Q	GLSADRRRSLCAREFRKLGFSNSNP	GLSADRRRSLCAQEFRKLGFSNSNP	2.0	8.0	unscreened	-	3879_16:67235751-67235751 G>A_GLSADRRRSLCAQEFRKLGFSNSNP
17:39780686-39780686 G>A	0.0	3879	MELANOMA	-	-	-	-	KRT17	NM_000422,p.R26C|uc010wft.2,p.R26C|uc002hxh.2,p.R26C|ENST00000311208,p.R26C	retained_intron, protein_coding	uc010wft.2	nonsynonymous SNV	exon1	c.C76T	p.R26C	IKGSSGLGGGSSRTSCRLSGGLGAG	IKGSSGLGGGSSCTSCRLSGGLGAG	1.0	10.0	unscreened	-	3879_17:39780686-39780686 G>A_IKGSSGLGGGSSCTSCRLSGGLGAG
19:51629129-51629129 T>A	0.0	3879	MELANOMA	-	-	-	-	SIGLEC9	uc010yct.2,p.S233T|NM_014441,p.S233T|ENST00000250360,p.S233T|uc002pvu.3,p.S233T|ENST00000440804,p.S233T|NM_001198558,p.S233T	protein_coding	uc010yct.2	nonsynonymous SNV	exon2	c.T697A	p.S233T	SVTTNKTVHLNVSYPPQNLTMTVFQ	SVTTNKTVHLNVTYPPQNLTMTVFQ	1.0	7.0	unscreened	-	3879_19:51629129-51629129 T>A_SVTTNKTVHLNVTYPPQNLTMTVFQ
8:110464445-110464445 C>T	0.0	3879	MELANOMA	-	-	-	-	PKHD1L1	uc003yne.3,p.A2148V|NM_177531,p.A2148V|ENST00000378402,p.A2148V	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon42	c.C6443T	p.A2148V	YSNKTHIICMTDAHTLSGWAPVCVH	YSNKTHIICMTDVHTLSGWAPVCVH	1.0	6.0	unscreened	-	3879_8:110464445-110464445 C>T_YSNKTHIICMTDVHTLSGWAPVCVH
X:140967193-140967193 G>A	0.0	3879	MELANOMA	-	-	-	-	MAGEC3	ENST00000298296,p.R164K|NM_138702,p.R164K|uc011mwp.2,p.R164K	protein_coding, processed_transcript	uc011mwp.2	nonsynonymous SNV	exon3	c.G491A	p.R164K	YTLSLPAVSPGKRLWGEKAGSLPES	YTLSLPAVSPGKKLWGEKAGSLPES	1.0	9.0	unscreened	-	3879_X:140967193-140967193 G>A_YTLSLPAVSPGKKLWGEKAGSLPES
1:230914780-230914780 G>A	0.0	3879	MELANOMA	-	-	-	-	CAPN9	ENST00000366666,p.D276N|uc001hua.1,p.D313N|uc001htz.1,p.D339N|NM_016452,p.D313N|ENST00000271971,p.D339N|uc009xfg.1,p.D276N|ENST00000354537,p.D313N|NM_006615,p.D339N	protein_coding, processed_transcript	uc009xfg.1	nonsynonymous SNV	exon7	c.G826A	p.D276N	HFDKVEICNLTPDALEEDAIHKWEV	HFDKVEICNLTPNALEEDAIHKWEV	1.0	8.0	unscreened	-	3879_1:230914780-230914780 G>A_HFDKVEICNLTPNALEEDAIHKWEV
2:179640203-179640203 C>T	0.0	3879	MELANOMA	-	-	-	-	TTN	ENST00000460472,p.E2084K|uc021vsz.2,p.E2084K|NM_133379,p.E2130K|uc021vsy.2,p.E2130K|ENST00000342175,p.E2084K|uc021vta.2,p.E2084K|NM_001267550,p.E2130K|NM_133378,p.E2130K|ENST00000589042,p.E2130K|NM_133437,p.E2084K|ENST00000591111,p.E2130K|ENST00000359218,p.E2084K|uc031rqd.1,p.E2130K|ENST00000342992,p.E2130K|uc021vtb.2,p.E2084K|NM_003319,p.E2084K|uc002unb.3,p.E2130K|NM_133432,p.E2084K|ENST00000360870,p.E2130K|uc031rqc.1,p.E2130K|NM_001256850,p.E2130K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon28	c.G6388A	p.E2130K	IERSDRIYWYWPEDNVCELVIRDVT	IERSDRIYWYWPKDNVCELVIRDVT	1.0	9.0	unscreened	-	3879_2:179640203-179640203 C>T_IERSDRIYWYWPKDNVCELVIRDVT
9:78925734-78925734 T>A	0.0	3879	MELANOMA	-	-	-	-	PCSK5	uc004akc.2,p.L1257H|ENST00000545128,p.L1257H|ENST00000424854,p.L957H|NM_001190482,p.L1257H	protein_coding	uc004akc.2	nonsynonymous SNV	exon29	c.T3770A	p.L1257H	KKCQMQPGHPLFLHEGRCYSKCPEG	KKCQMQPGHPLFHHEGRCYSKCPEG	1.0	10.0	unscreened	-	3879_9:78925734-78925734 T>A_KKCQMQPGHPLFHHEGRCYSKCPEG
12:52960905-52960905 C>T	0.0	3879	MELANOMA	-	-	-	-	KRT74	NM_175053,p.G480S|ENST00000305620,p.G480S|ENST00000549343,p.G494S|uc001sap.1,p.G480S	retained_intron, protein_coding	uc001sap.1	nonsynonymous SNV	exon9	c.G1438A	p.G480S	SSSYSYHHPSSAGVDLGASAVAGSS	SSSYSYHHPSSASVDLGASAVAGSS	1.0	9.0	unscreened	-	3879_12:52960905-52960905 C>T_SSSYSYHHPSSASVDLGASAVAGSS
5:41019119-41019119 T>G	0.0	3879	MELANOMA	-	-	-	-	MROH2B	ENST00000506092,p.K370Q|NM_173489,p.K815Q|uc003jmj.4,p.K815Q|uc003jmi.4,p.K370Q|ENST00000399564,p.K815Q	retained_intron, protein_coding	uc003jmj.4	nonsynonymous SNV	exon25	c.A2443C	p.K815Q	RWKALIAIRYLSKLKPQLSLQDHLN	RWKALIAIRYLSQLKPQLSLQDHLN	1.0	3.0	unscreened	-	3879_5:41019119-41019119 T>G_RWKALIAIRYLSQLKPQLSLQDHLN
14:75018941-75018941 C>T	0.0	3879	MELANOMA	-	-	-	-	LTBP2	ENST00000261978,p.E450K|uc001xqa.3,p.E450K|ENST00000556690,p.E450K|ENST00000553939,p.E450K|NM_000428,p.E450K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xqa.3	nonsynonymous SNV	exon6	c.G1348A	p.E450K	PPGRGSRPRALLEAPLKQSTFTLPL	PPGRGSRPRALLKAPLKQSTFTLPL	3.0	1.0	unscreened	-	3879_14:75018941-75018941 C>T_PPGRGSRPRALLKAPLKQSTFTLPL
11:124007768-124007768 G>A	0.0	3879	MELANOMA	-	-	-	-	VWA5A	uc001pzu.3,p.D558N|uc001pzt.3,p.D558N|NM_014622,p.D558N|NM_001130142,p.D558N|ENST00000392748,p.D558N|ENST00000456829,p.D558N	retained_intron, protein_coding	uc001pzu.3	nonsynonymous SNV	exon15	c.G1672A	p.D558N	HRLAAKSLLQTKDMGLRETPASDKK	HRLAAKSLLQTKNMGLRETPASDKK	3.0	9.0	unscreened	-	3879_11:124007768-124007768 G>A_HRLAAKSLLQTKNMGLRETPASDKK
10:124459191-124459191 G>A	0.0	3879	MELANOMA	-	-	-	-	C10orf120	uc001lgn.3,p.S39F|ENST00000329446,p.S39F|NM_001010912,p.S39F	protein_coding	uc001lgn.3	nonsynonymous SNV	exon1	c.C116T	p.S39F	NEKPVRIFNTNSSFQDQAPTCCQED	NEKPVRIFNTNSFFQDQAPTCCQED	1.0	7.0	unscreened	-	3879_10:124459191-124459191 G>A_NEKPVRIFNTNSFFQDQAPTCCQED
14:60938456-60938456 C>T	1.0	3879	MELANOMA	-	-	-	-	C14orf39	ENST00000321731,p.E109K|ENST00000555476,p.E80K|uc001xez.4,p.E109K|NM_174978,p.E109K	protein_coding, nonsense_mediated_decay	uc001xez.4	nonsynonymous SNV	exon6	c.G325A	p.E109K	FTVYQGTVEKDKEMYHDYICQYKEV	FTVYQGTVEKDKKMYHDYICQYKEV	4.0	8.0	-	-	3879_14:60938456-60938456 C>T_FTVYQGTVEKDKKMYHDYICQYKEV
X:106841343-106841343 G>A	0.0	3879	MELANOMA	-	-	-	-	FRMPD3	ENST00000439554,p.G726E|ENST00000276185,p.G778E|NM_032428,p.G778E	protein_coding, processed_transcript	NM_032428	nonsynonymous SNV	exon15	c.G2333A	p.G778E	LQALEALAASEDGPHPPPPQTAGLI	LQALEALAASEDEPHPPPPQTAGLI	1.0	10.0	unscreened	-	3879_X:106841343-106841343 G>A_LQALEALAASEDEPHPPPPQTAGLI
6:117645576-117645576 C>T	0.0	3879	MELANOMA	-	-	-	1	ROS1	ENST00000368507,p.D1848N|uc003pxp.1,p.D1854N|NM_002944,p.D1854N|ENST00000368508,p.D1854N	protein_coding	uc003pxp.1	nonsynonymous SNV	exon34	c.G5560A	p.D1854N	SGISENIILVGDDFWIPETSFILTI	SGISENIILVGDNFWIPETSFILTI	1.0	2.0	unscreened	-	3879_6:117645576-117645576 C>T_SGISENIILVGDNFWIPETSFILTI
1:228492854-228492854 G>A	1.0	3879	MELANOMA	-	-	-	-	OBSCN	uc001hsq.2,p.R4766K|NM_001271223,p.R4766K|ENST00000570156,p.R4766K	retained_intron, protein_coding, processed_transcript	uc001hsq.2	nonsynonymous SNV	exon54	c.G14297A	p.R4766K	IRALPAKFTKGLRNEEATEGATAML	IRALPAKFTKGLKNEEATEGATAML	10.0	1.0	-	-	3879_1:228492854-228492854 G>A_IRALPAKFTKGLKNEEATEGATAML
2:152350708-152350708 C>A	0.0	3879	MELANOMA	-	-	-	-	NEB	NM_001164508,p.Q8182H|uc031rpp.1,p.Q8217H|ENST00000172853,p.Q6326H|uc010zbz.2,p.Q126H|uc010zcb.2,p.Q126H|uc002txu.3,p.Q8182H|uc010zca.2,p.Q157H|NM_001164507,p.Q8182H|ENST00000397345,p.Q8182H|ENST00000427231,p.Q8182H|uc021vrc.1,p.Q8182H|NM_001271208,p.Q8217H|uc021vrb.1,p.Q6326H|uc021vrd.1,p.Q6326H|ENST00000397336,p.Q157H|ENST00000413693,p.Q2726H|ENST00000509223,p.Q126H|ENST00000409198,p.Q6326H|ENST00000603639,p.Q8182H|uc002txr.3,p.Q2761H|ENST00000604864,p.Q8182H|uc002txq.3,p.Q205H	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon175	c.G24651T	p.Q8217H	GKATATPVTPEMQRVKRNQENISSV	GKATATPVTPEMHRVKRNQENISSV	5.0	1.0	unscreened	-	3879_2:152350708-152350708 C>A_GKATATPVTPEMHRVKRNQENISSV
4:88534443-88534443 G>A	0.0	3879	MELANOMA	-	-	-	-	DSPP	uc003hqu.3,p.G369R|ENST00000282478,p.G369R|NM_014208,p.G369R|ENST00000399271,p.G369R	protein_coding	uc003hqu.3	nonsynonymous SNV	exon4	c.G1105A	p.G369R	NRITKESETHAVGKSQDKGIEIKGP	NRITKESETHAVRKSQDKGIEIKGP	1.0	1.0	unscreened	-	3879_4:88534443-88534443 G>A_NRITKESETHAVRKSQDKGIEIKGP
20:41306794-41306794 G>A	0.0	3879	MELANOMA	-	-	-	1	PTPRT	ENST00000373198,p.P289S|ENST00000373193,p.P289S|ENST00000373187,p.P289S|NM_133170,p.P289S|ENST00000373190,p.P289S|uc002xkg.3,p.P289S|ENST00000356100,p.P289S|ENST00000373184,p.P289S|ENST00000373201,p.P289S|NM_007050,p.P289S|uc010ggj.3,p.P289S	protein_coding, processed_transcript	uc010ggj.3	nonsynonymous SNV	exon7	c.C865T	p.P289S	VSNYAELIVKEPPTPIAPPELLAVG	VSNYAELIVKEPSTPIAPPELLAVG	1.0	8.0	unscreened	-	3879_20:41306794-41306794 G>A_VSNYAELIVKEPSTPIAPPELLAVG
8:110453570-110453570 G>A	0.0	3879	MELANOMA	-	-	ID=COSM3951131;OCCURENCE=1(lung)	-	PKHD1L1	NM_177531,p.G1389E|uc003yne.3,p.G1389E|ENST00000378402,p.G1389E	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon34	c.G4166A	p.G1389E	SENVIKCILHSTGNIFRITNNGKDS	SENVIKCILHSTENIFRITNNGKDS	1.0	6.0	unscreened	-	3879_8:110453570-110453570 G>A_SENVIKCILHSTENIFRITNNGKDS
2:215279282-215279282 A>T	0.0	3879	MELANOMA	-	-	-	-	VWC2L	ENST00000312504,p.N122I|uc002vet.2,p.N122I|NM_001080500,p.N122I	retained_intron, protein_coding	uc002vet.2	nonsynonymous SNV	exon2	c.A365T	p.N122I	KEVKNFCEYHGKNYKILEEFKPSPC	KEVKNFCEYHGKIYKILEEFKPSPC	1.0	4.0	unscreened	-	3879_2:215279282-215279282 A>T_KEVKNFCEYHGKIYKILEEFKPSPC
1:57538053-57538053 G>A	0.0	3879	MELANOMA	-	-	-	-	DAB1	uc001cyq.1,p.S114F|uc001cys.1,p.S114F|ENST00000371234,p.S114F|uc009vzx.1,p.S114F|NM_021080,p.S114F|ENST00000371236,p.S114F|ENST00000414851,p.S114F|ENST00000371231,p.S114F|uc001cyt.1,p.S114F|ENST00000371230,p.S114F|uc009vzw.1,p.S114F|ENST00000332102,p.S114F|ENST00000420954,p.S114F	protein_coding, processed_transcript	uc009vzx.1	nonsynonymous SNV	exon5	c.C341T	p.S114F	GALQHHHAVHEISYIAKDITDHRAF	GALQHHHAVHEIFYIAKDITDHRAF	1.0	3.0	unscreened	-	3879_1:57538053-57538053 G>A_GALQHHHAVHEIFYIAKDITDHRAF
11:59949121-59949121 G>A	0.0	3879	MELANOMA	0.0	-	-	-	MS4A6A	NM_022349,p.P27L|NM_152852,p.P27L|ENST00000534596,p.P55L|uc010rlb.2,p.P27L|ENST00000426738,p.P27L|ENST00000528851,p.P27L|ENST00000532169,p.P27L|ENST00000529054,p.P55L|ENST00000531531,p.P55L|ENST00000527254,p.P27L|uc001not.3,p.P27L|ENST00000412309,p.P55L|ENST00000533023,p.P27L|uc001noq.3,p.P27L|NM_001247999,p.P55L|ENST00000530839,p.P27L|uc009ymv.3,p.P27L|NM_152851,p.P27L|ENST00000420732,p.P27L|ENST00000323961,p.P27L|uc010rla.2,p.P55L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rlb.2	nonsynonymous SNV	exon2	c.C80T	p.P27L	PSNVINFSQAEKPEPTNQGQDSLKK	PSNVINFSQAEKLEPTNQGQDSLKK	5.0	10.0	unscreened	-	3879_11:59949121-59949121 G>A_PSNVINFSQAEKLEPTNQGQDSLKK
14:94964358-94964358 T>A	0.0	3879	MELANOMA	-	-	-	-	SERPINA12	ENST00000341228,p.K126M|NM_173850,p.K126M|uc001ydj.3,p.K126M|ENST00000556881,p.K126M	protein_coding	uc001ydj.3	nonsynonymous SNV	exon3	c.A377T	p.K126M	EGFHYIIHELTQKTQDLKLSIGNTL	EGFHYIIHELTQMTQDLKLSIGNTL	1.0	8.0	unscreened	-	3879_14:94964358-94964358 T>A_EGFHYIIHELTQMTQDLKLSIGNTL
2:179445197-179445197 T>G	0.0	3879	MELANOMA	-	-	-	-	TTN	ENST00000359218,p.R13363S|uc031rqc.1,p.R22303S|uc021vta.2,p.R13363S|NM_003319,p.R13238S|ENST00000591111,p.R20662S|ENST00000342175,p.R13430S|NM_133378,p.R19735S|NM_001256850,p.R20662S|uc021vsy.2,p.R19735S|uc021vtb.2,p.R13238S|NM_133437,p.R13430S|NM_001267550,p.R22303S|ENST00000460472,p.R13238S|ENST00000342992,p.R19735S|uc021vsz.2,p.R13430S|ENST00000589042,p.R22303S|NM_133432,p.R13363S|uc031rqd.1,p.R20662S	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon267	c.A61986C	p.R20662S	PKITWSKPNVNLRDRIGLDIKSTDF	PKITWSKPNVNLSDRIGLDIKSTDF	1.0	4.0	unscreened	-	3879_2:179445197-179445197 T>G_PKITWSKPNVNLSDRIGLDIKSTDF
1:153974264-153974264 C>T	0.0	3879	MELANOMA	-	-	-	-	NUP210L	ENST00000368559,p.D1710N|uc001fdw.3,p.D1710N|uc009woq.3,p.D619N|NM_207308,p.D1710N	protein_coding	uc009woq.3	nonsynonymous SNV	exon24	c.G1855A	p.D619N	INQSELVLSHKQDIGEIRVLGVDRV	INQSELVLSHKQNIGEIRVLGVDRV	1.0	1.0	unscreened	-	3879_1:153974264-153974264 C>T_INQSELVLSHKQNIGEIRVLGVDRV
1:39549961-39549961 G>A	0.0	3879	MELANOMA	-	-	ID=COSM3489314,COSM3489315;OCCURENCE=1(liver)	-	MACF1	ENST00000484793,p.R24Q|uc031pmc.1,p.R24Q|ENST00000567887,p.R24Q|ENST00000361689,p.R24Q|ENST00000602421,p.R24Q|ENST00000317713,p.R24Q|uc010oir.3,p.R24Q|uc001cdc.2,p.R24Q|NM_012090,p.R24Q|ENST00000545844,p.R24Q|ENST00000539005,p.R24Q|ENST00000372915,p.R24Q|uc021olt.1,p.R24Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pmc.1	nonsynonymous SNV	exon1	c.G71A	p.R24Q	RSCRSERSCRSERSYRSERSGSLSP	RSCRSERSCRSEQSYRSERSGSLSP	10.0	4.0	unscreened	-	3879_1:39549961-39549961 G>A_RSCRSERSCRSEQSYRSERSGSLSP
18:335132-335132 C>T	0.0	3879	MELANOMA	-	-	-	-	COLEC12	NM_130386,p.G476R|ENST00000400256,p.G476R|uc002kkm.3,p.G476R	retained_intron, protein_coding	uc002kkm.3	nonsynonymous SNV	exon6	c.G1426A	p.G476R	GNKGQKGEKGEPGPPGPAGERGPIG	GNKGQKGEKGEPRPPGPAGERGPIG	4.0	10.0	unscreened	-	3879_18:335132-335132 C>T_GNKGQKGEKGEPRPPGPAGERGPIG
6:152473161-152473161 A>G	1.0	3879	MELANOMA	-	-	-	-	SYNE1	ENST00000341594,p.V7694A|uc003qou.4,p.V8082A|uc011eez.2,p.V284A|ENST00000367255,p.V8082A|NM_182961,p.V8082A|ENST00000367257,p.V728A|ENST00000356820,p.V2606A|ENST00000448038,p.V8011A|ENST00000354674,p.V237A|NM_033071,p.V8011A|ENST00000539504,p.V237A|ENST00000367251,p.V1004A|uc003qoq.4,p.V284A|ENST00000265368,p.V8082A|ENST00000423061,p.V8011A|uc003qor.4,p.V982A|uc003qos.4,p.V2606A|uc003qot.4,p.V8011A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011eez.2	nonsynonymous SNV	exon7	c.T851C	p.V284A	NRTDSACSLKQMVHEGNQRWDNLQK	NRTDSACSLKQMAHEGNQRWDNLQK	9.0	4.0	-	-	3879_6:152473161-152473161 A>G_NRTDSACSLKQMAHEGNQRWDNLQK
3:128690265-128690265 C>T	0.0	3879	MELANOMA	-	-	-	-	KIAA1257	ENST00000515659,p.D233N|NM_020741,p.D345N|uc003elj.4,p.D345N|uc003elg.1,p.D345N|uc003eli.4,p.D233N|ENST00000265068,p.D345N|ENST00000511438,p.D345N	protein_coding, processed_transcript	uc003elj.4	nonsynonymous SNV	exon8	c.G1033A	p.D345N	ILDRQRSQIKGKDSEGRRKIQRRHK	ILDRQRSQIKGKNSEGRRKIQRRHK	1.0	9.0	unscreened	-	3879_3:128690265-128690265 C>T_ILDRQRSQIKGKNSEGRRKIQRRHK
6:107009221-107009221 G>A	0.0	3879	MELANOMA	-	-	ID=COSM1071788;OCCURENCE=1(endometrium)	-	AIM1	uc003pri.4,p.R406Q|ENST00000369066,p.R1587Q|uc003prh.3,p.R1587Q|NM_001624,p.R1587Q|ENST00000535438,p.R406Q	protein_coding, processed_transcript	uc003pri.4	nonsynonymous SNV	exon12	c.G1217A	p.R406Q	RQIGSLRPFVQKRIYFRLRNKATGL	RQIGSLRPFVQKQIYFRLRNKATGL	1.0	3.0	unscreened	-	3879_6:107009221-107009221 G>A_RQIGSLRPFVQKQIYFRLRNKATGL
X:114141874-114141874 G>A	0.0	3879	MELANOMA	-	-	ID=COSM1465018;OCCURENCE=1(large_intestine)	-	HTR2C	uc004epu.1,p.E425K|ENST00000371951,p.E425K|NM_000868,p.E425K|ENST00000276198,p.E425K|NM_001256760,p.E425K|uc010nqc.1,p.E425K	protein_coding	uc010nqc.1	nonsynonymous SNV	exon7	c.G1273A	p.E425K	VNIYRHTNEPVIEKASDNEPGIEMQ	VNIYRHTNEPVIKKASDNEPGIEMQ	3.0	10.0	unscreened	-	3879_X:114141874-114141874 G>A_VNIYRHTNEPVIKKASDNEPGIEMQ
1:152058620-152058620 T>A	0.0	3879	MELANOMA	-	-	-	-	TCHHL1	NM_001008536,p.N513I|ENST00000368806,p.N513I|uc001ezo.1,p.N513I	protein_coding	uc001ezo.1	nonsynonymous SNV	exon3	c.A1538T	p.N513I	DLAPLEKQSVGENTRVTKTHDQPVE	DLAPLEKQSVGEITRVTKTHDQPVE	1.0	9.0	unscreened	-	3879_1:152058620-152058620 T>A_DLAPLEKQSVGEITRVTKTHDQPVE
3:36527719-36527719 C>T	0.0	3879	MELANOMA	-	-	-	-	STAC	ENST00000457375,p.S161F|ENST00000273183,p.S222F|NM_003149,p.S222F|ENST00000434649,p.S150F|uc003cgh.1,p.S222F|uc011aya.1,p.S161F|NM_001292049,p.S161F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011aya.1	nonsynonymous SNV	exon3	c.C482T	p.S161F	AQRTKKGSSGSGSDSPHRTSTSDLV	AQRTKKGSSGSGFDSPHRTSTSDLV	1.0	10.0	unscreened	-	3879_3:36527719-36527719 C>T_AQRTKKGSSGSGFDSPHRTSTSDLV
10:47086824-47086824 C>T	0.0	3879	MELANOMA	-	-	ID=COSM3807218;OCCURENCE=1(breast)	-	LOC100996758,NPY4R	NM_001278794,p.S14F|NM_001278795,p.S14F|ENST00000374312,p.S14F|NM_005972,p.S14F|uc001jee.3,p.S14F|uc021ppu.1,p.S14F|uc009xna.3,p.S14F|ENST00000395716,p.S14F	protein_coding	uc021ppu.1	nonsynonymous SNV	exon1	c.C41T	p.S14F	NTSHLLALLLPKSPQGENRSKPLGT	NTSHLLALLLPKFPQGENRSKPLGT	1.0	1.0	unscreened	-	3879_10:47086824-47086824 C>T_NTSHLLALLLPKFPQGENRSKPLGT
2:47202132-47202132 C>T	0.0	3879	MELANOMA	-	-	-	-	TTC7A	uc002rvo.3,p.P180S|uc010fbb.3,p.P180S|NM_020458,p.P180S|ENST00000394850,p.P180S|ENST00000319190,p.P180S|ENST00000409245,p.P146S|NM_001288951,p.P180S|NM_001288953,p.P146S|uc002rvm.3,p.P146S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fbb.3	nonsynonymous SNV	exon4	c.C538T	p.P180S	AFVIKGLSLERLPNSIASRFRLTER	AFVIKGLSLERLSNSIASRFRLTER	2.0	2.0	unscreened	-	3879_2:47202132-47202132 C>T_AFVIKGLSLERLSNSIASRFRLTER
2:47202132-47202132 C>T	0.0	3879	MELANOMA	-	-	-	-	TTC7A	uc002rvp.3,p.P61S|uc002rvn.1,p.P61S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002rvp.3	nonsynonymous SNV	exon5	c.C181T	p.P61S	RSCRGGLSLERLPNSIASRFRLTER	RSCRGGLSLERLSNSIASRFRLTER	2.0	2.0	unscreened	-	3879_2:47202132-47202132 C>T_RSCRGGLSLERLSNSIASRFRLTER
2:215279282-215279282 A>T	0.0	3879	MELANOMA	-	-	-	-	VWC2L	ENST00000427124,p.N122I|uc010zjl.1,p.N122I	retained_intron, protein_coding	uc010zjl.1	nonsynonymous SNV	exon2	c.A365T	p.N122I	KEVKNFCEYHGKNYKILEEFKVQTA	KEVKNFCEYHGKIYKILEEFKVQTA	1.0	4.0	unscreened	-	3879_2:215279282-215279282 A>T_KEVKNFCEYHGKIYKILEEFKVQTA
16:74709283-74709283 C>T	0.0	3879	MELANOMA	-	-	-	-	MLKL	uc002fdb.2,p.E404K|ENST00000308807,p.E404K|NM_152649,p.E404K	retained_intron, protein_coding, nonsense_mediated_decay	uc002fdb.2	nonsynonymous SNV	exon9	c.G1210A	p.E404K	KSEIYSFGIVLWEIATGDIPFQGCN	KSEIYSFGIVLWKIATGDIPFQGCN	2.0	7.0	unscreened	-	3879_16:74709283-74709283 C>T_KSEIYSFGIVLWKIATGDIPFQGCN
1:3417864-3417864 C>T	0.0	3879	MELANOMA	-	-	-	-	MEGF6	uc001akl.3,p.E775K|ENST00000356575,p.E775K|ENST00000485002,p.E782K|NM_001409,p.E775K|ENST00000294599,p.E670K|uc001akk.3,p.E670K	retained_intron, protein_coding, nonsense_mediated_decay	uc001akl.3	nonsynonymous SNV	exon19	c.G2323A	p.E775K	GRTGEDCEADCPEGRWGLGCQEICP	GRTGEDCEADCPKGRWGLGCQEICP	1.0	7.0	unscreened	-	3879_1:3417864-3417864 C>T_GRTGEDCEADCPKGRWGLGCQEICP
9:138662148-138662148 G>A	0.0	3879	MELANOMA	-	-	-	-	KCNT1	ENST00000488444,p.G523R|ENST00000371757,p.G542R|ENST00000263604,p.G523R|ENST00000486577,p.G503R|ENST00000298480,p.G542R|uc010nbf.3,p.G497R|ENST00000490355,p.G523R|uc004cgo.1,p.G291R|uc011mdq.2,p.G542R|uc011mdr.2,p.G369R|NM_001272003,p.G497R|ENST00000487664,p.G497R|ENST00000491806,p.G509R|NM_020822,p.G542R	retained_intron, protein_coding, nonsense_mediated_decay	uc011mdr.2	nonsynonymous SNV	exon17	c.G1105A	p.G369R	ITLLVHTSRGQEGQESPEQWQRMYG	ITLLVHTSRGQERQESPEQWQRMYG	1.0	10.0	unscreened	-	3879_9:138662148-138662148 G>A_ITLLVHTSRGQERQESPEQWQRMYG
11:121454241-121454241 G>A	0.0	3879	MELANOMA	-	-	-	-	SORL1	uc001pxx.3,p.D1219N|ENST00000260197,p.D1219N|NM_003105,p.D1219N|ENST00000532694,p.D65N|ENST00000525532,p.D163N|ENST00000534286,p.D129N|uc010rzp.1,p.D65N	retained_intron, protein_coding, processed_transcript	uc010rzp.1	nonsynonymous SNV	exon3	c.G193A	p.D65N	RNGHCIPQRWACDGDTDCQDGSDED	RNGHCIPQRWACNGDTDCQDGSDED	4.0	10.0	unscreened	-	3879_11:121454241-121454241 G>A_RNGHCIPQRWACNGDTDCQDGSDED
2:207174246-207174246 G>A	1.0	3879	MELANOMA	-	-	-	-	ZDBF2	NM_001285549,p.G1663E|uc031rqy.1,p.G1663E|uc002vbp.2,p.G1665E|NM_020923,p.G1665E|ENST00000374423,p.G1665E	protein_coding	uc031rqy.1	nonsynonymous SNV	exon7	c.G4988A	p.G1663E	SEDKSCGYNGSKGKFNLEDTSHRTT	SEDKSCGYNGSKEKFNLEDTSHRTT	7.0	4.0	-	-	3879_2:207174246-207174246 G>A_SEDKSCGYNGSKEKFNLEDTSHRTT
10:134755157-134755157 A>T	0.0	3879	MELANOMA	-	-	-	-	CFAP46	NM_001200049,p.F82I|ENST00000368585,p.F82I|uc001llu.3,p.F82I|uc021qbc.1,p.F82I|uc001llt.3,p.F82I|ENST00000368582,p.F82I|ENST00000368586,p.F82I	retained_intron, protein_coding	uc021qbc.1	nonsynonymous SNV	exon3	c.T244A	p.F82I	QMYFKVKAPITQFLGRAHLCRAQMC	QMYFKVKAPITQILGRAHLCRAQMC	1.0	2.0	unscreened	-	3879_10:134755157-134755157 A>T_QMYFKVKAPITQILGRAHLCRAQMC
10:61868781-61868781 C>T	0.0	3879	MELANOMA	-	-	-	-	ANK3	uc001jlb.1,p.G512R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jlb.1	nonsynonymous SNV	exon28	c.G1534A	p.G512R	SRFLVSFMVDARGGSMRGSRHHGMR	SRFLVSFMVDARRGSMRGSRHHGMR	2.0	7.0	unscreened	-	3879_10:61868781-61868781 C>T_SRFLVSFMVDARRGSMRGSRHHGMR
10:61868781-61868781 C>T	0.0	3879	MELANOMA	-	-	-	-	ANK3	ENST00000373827,p.G988R|uc001jkx.3,p.G172R|ENST00000513049,p.G119R|NM_001204404,p.G995R|ENST00000373815,p.G119R|ENST00000503366,p.G995R|ENST00000280772,p.G994R|uc001jkw.3,p.G128R|uc009xpa.3,p.G128R|uc001jky.3,p.G994R|NM_001149,p.G128R|NM_001204403,p.G988R|ENST00000355288,p.G128R|uc001jkz.4,p.G988R|uc010qih.2,p.G995R|uc001jla.1,p.G60R|NM_020987,p.G994R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qih.2	nonsynonymous SNV	exon28	c.G2983A	p.G995R	SGFLVSFMVDARGGSMRGSRHHGMR	SGFLVSFMVDARRGSMRGSRHHGMR	2.0	7.0	unscreened	-	3879_10:61868781-61868781 C>T_SGFLVSFMVDARRGSMRGSRHHGMR
2:158300366-158300366 C>T	0.0	3879	MELANOMA	-	-	ID=COSM1691178;OCCURENCE=1(skin)	-	CYTIP	ENST00000435117,p.R21Q|ENST00000439355,p.R21Q|NM_004288,p.R56Q|ENST00000264192,p.R56Q|uc002tzj.1,p.R56Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tzj.1	nonsynonymous SNV	exon1	c.G167A	p.R56Q	MLADTVATLPRGRKQLALTRSSSLS	MLADTVATLPRGQKQLALTRSSSLS	2.0	3.0	unscreened	-	3879_2:158300366-158300366 C>T_MLADTVATLPRGQKQLALTRSSSLS
9:121929733-121929733 C>T	0.0	3879	MELANOMA	-	-	-	-	BRINP1	uc004bkc.2,p.D639N|NM_014618,p.D639N|ENST00000265922,p.D639N	protein_coding, processed_transcript	uc004bkc.2	nonsynonymous SNV	exon8	c.G1915A	p.D639N	TLLRNETGQGPVDLSDPSKRQFYIK	TLLRNETGQGPVNLSDPSKRQFYIK	1.0	9.0	unscreened	-	3879_9:121929733-121929733 C>T_TLLRNETGQGPVNLSDPSKRQFYIK
5:13717540-13717540 C>T	0.0	3879	MELANOMA	-	-	-	-	DNAH5	ENST00000265104,p.E4197K|uc003jfc.2,p.E365K|uc003jfd.2,p.E4197K|NM_001369,p.E4197K	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon73	c.G12589A	p.E4197K	LYAVAFLHSTVQERRKFGALGWNIP	LYAVAFLHSTVQKRRKFGALGWNIP	1.0	4.0	unscreened	-	3879_5:13717540-13717540 C>T_LYAVAFLHSTVQKRRKFGALGWNIP
6:32117452-32117452 G>A	0.0	3879	MELANOMA	-	-	-	-	PRRT1	uc003nzu.3,p.P95S	retained_intron, protein_coding, processed_transcript	uc003nzu.3	nonsynonymous SNV	exon5	c.C283T	p.P95S	RDPGGNRSDLHSPPAAPGPRAGPTG	RDPGGNRSDLHSSPAAPGPRAGPTG	6.0	1.0	unscreened	-	3879_6:32117452-32117452 G>A_RDPGGNRSDLHSSPAAPGPRAGPTG
1:157804505-157804505 C>T	0.0	3879	MELANOMA	-	-	-	-	CD5L	ENST00000368174,p.G137D|uc001frk.4,p.G137D|NM_005894,p.G137D	protein_coding, processed_transcript	uc001frk.4	nonsynonymous SNV	exon4	c.G410A	p.G137D	ENPESSFSPVPEGVRLADGPGHCKG	ENPESSFSPVPEDVRLADGPGHCKG	1.0	1.0	unscreened	-	3879_1:157804505-157804505 C>T_ENPESSFSPVPEDVRLADGPGHCKG
22:43976415-43976415 T>C	0.0	3879	MELANOMA	-	-	-	-	EFCAB6	NM_022785,p.T1053A|uc003bdy.2,p.T1053A|uc003bdz.2,p.T901A|uc010gzi.2,p.T901A|uc010gzj.1,p.T279A|ENST00000262726,p.T1053A|NM_198856,p.T901A|ENST00000396231,p.T901A	retained_intron, protein_coding, processed_transcript	uc010gzj.1	nonsynonymous SNV	exon6	c.A835G	p.T279A	KEKEESMPINFATLNPQEAVRKIQE	KEKEESMPINFAALNPQEAVRKIQE	1.0	6.0	unscreened	-	3879_22:43976415-43976415 T>C_KEKEESMPINFAALNPQEAVRKIQE
7:30795339-30795339 G>A	0.0	3879	MELANOMA	-	-	ID=COSM1210679;OCCURENCE=1(large_intestine)	-	INMT	uc010kwd.1,p.E221K|NM_006774,p.E222K|uc003tbs.1,p.E222K|ENST00000409539,p.E221K|ENST00000013222,p.E222K|NM_001199219,p.E221K	protein_coding, processed_transcript	uc010kwd.1	nonsynonymous SNV	exon3	c.G661A	p.E221K	EFSCVALEKEEVEQAVLDAGFDIEQ	EFSCVALEKEEVKQAVLDAGFDIEQ	2.0	4.0	unscreened	-	3879_7:30795339-30795339 G>A_EFSCVALEKEEVKQAVLDAGFDIEQ
7:82579037-82579037 G>A	0.0	3879	MELANOMA	-	-	-	-	PCLO	uc003uhx.2,p.L3623F|NM_033026,p.L3623F|uc010lec.3,p.L588F|ENST00000333891,p.L3623F|NM_014510,p.L3623F|uc003uhv.2,p.L3623F|ENST00000423517,p.L3623F|ENST00000437081,p.L343F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lec.3	nonsynonymous SNV	exon1	c.C1762T	p.L588F	QLAPSPPKSPKVLYSPISPLSPGKA	QLAPSPPKSPKVFYSPISPLSPGKA	2.0	3.0	unscreened	-	3879_7:82579037-82579037 G>A_QLAPSPPKSPKVFYSPISPLSPGKA
9:90501596-90501596 G>A	0.0	3879	MELANOMA	-	-	-	-	SPATA31E1	uc004app.4,p.E732K|NM_178828,p.E732K|ENST00000325643,p.E732K|uc004apo.1,p.E544K	protein_coding	uc004app.4	nonsynonymous SNV	exon4	c.G2194A	p.E732K	QGSGRTSVKALDEDKEAEGDLRRSW	QGSGRTSVKALDKDKEAEGDLRRSW	1.0	10.0	unscreened	-	3879_9:90501596-90501596 G>A_QGSGRTSVKALDKDKEAEGDLRRSW
19:48205538-48205538 C>T	0.0	3879	MELANOMA	-	-	-	-	GLTSCR1	uc002phh.4,p.R1517W|uc002phi.4,p.R1275W|ENST00000396720,p.R1517W|NM_015711,p.R1517W	retained_intron, protein_coding	uc002phi.4	nonsynonymous SNV	exon10	c.C3823T	p.R1275W	IDSILNLQQAPGRTPAPSYPHAASA	IDSILNLQQAPGWTPAPSYPHAASA	7.0	9.0	unscreened	-	3879_19:48205538-48205538 C>T_IDSILNLQQAPGWTPAPSYPHAASA
15:78393542-78393542 G>A	0.0	3879	MELANOMA	-	-	-	-	SH2D7	NM_001101404,p.G316E|ENST00000409568,p.G180E|ENST00000328828,p.G316E|uc010blb.1,p.G316E	protein_coding	uc010blb.1	nonsynonymous SNV	exon5	c.G947A	p.G316E	PDQGPTESPTSWGCSDAMGSLGATW	PDQGPTESPTSWECSDAMGSLGATW	1.0	5.0	unscreened	-	3879_15:78393542-78393542 G>A_PDQGPTESPTSWECSDAMGSLGATW
1:159900506-159900506 C>T	0.0	3879	MELANOMA	-	-	ID=COSM3418206,COSM3418205;OCCURENCE=1(large_intestine)	-	IGSF9	ENST00000361509,p.E581K|uc001fur.2,p.E597K|NM_020789,p.E581K|NM_001135050,p.E597K|uc001fuq.2,p.E581K|ENST00000368094,p.E597K	protein_coding, processed_transcript	uc001fur.2	nonsynonymous SNV	exon14	c.G1789A	p.E597K	LAQNKLGSGPFSEIVLSAPEGLPTT	LAQNKLGSGPFSKIVLSAPEGLPTT	1.0	1.0	unscreened	-	3879_1:159900506-159900506 C>T_LAQNKLGSGPFSKIVLSAPEGLPTT
2:179433970-179433970 C>T	0.0	3879	MELANOMA	-	-	-	-	TTN	ENST00000342175,p.G16757E|NM_001256850,p.G23989E|ENST00000460472,p.G16565E|ENST00000589042,p.G25630E|ENST00000359218,p.G16690E|uc031rqc.1,p.G25630E|uc021vsz.2,p.G16757E|ENST00000342992,p.G23062E|uc021vsy.2,p.G23062E|NM_001267550,p.G25630E|ENST00000591111,p.G23989E|NM_133378,p.G23062E|uc021vta.2,p.G16690E|uc021vtb.2,p.G16565E|uc031rqd.1,p.G23989E|NM_133432,p.G16690E|NM_133437,p.G16757E|NM_003319,p.G16565E	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon276	c.G71966A	p.G23989E	VSITWEPPLLDGGSKIKNYIVEKRE	VSITWEPPLLDGESKIKNYIVEKRE	1.0	8.0	unscreened	-	3879_2:179433970-179433970 C>T_VSITWEPPLLDGESKIKNYIVEKRE
7:18914160-18914160 G>A	0.0	3879	MELANOMA	-	-	-	-	HDAC9	NM_178423,p.G912E|uc003sui.3,p.G915E|ENST00000401921,p.G871E|uc003suj.3,p.G871E|uc003suh.3,p.G912E|NM_058176,p.G912E|ENST00000406451,p.G912E|NM_178425,p.G915E|uc003sue.3,p.G912E|ENST00000432645,p.G912E|uc003suk.3,p.G160E|ENST00000441542,p.G915E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003suk.3	nonsynonymous SNV	exon6	c.G479A	p.G160E	KEFDPDMVLVSAGFDALEGHTPPLG	KEFDPDMVLVSAEFDALEGHTPPLG	3.0	4.0	unscreened	-	3879_7:18914160-18914160 G>A_KEFDPDMVLVSAEFDALEGHTPPLG
18:31319901-31319901 G>A	0.0	3879	MELANOMA	-	-	ID=COSM1523176,COSM1523175;OCCURENCE=1(lung)	-	ASXL3	uc002kxq.2,p.E552K|ENST00000269197,p.E845K|uc010dmg.1,p.E845K|NM_030632,p.E845K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dmg.1	nonsynonymous SNV	exon11	c.G2533A	p.E845K	LSQQTCKSHVDTEKPYPASIPELAS	LSQQTCKSHVDTKKPYPASIPELAS	1.0	9.0	unscreened	-	3879_18:31319901-31319901 G>A_LSQQTCKSHVDTKKPYPASIPELAS
19:10444011-10444011 ->G	0.0	3879	MELANOMA	-	-	-	-	RAVER1	ENST00000293677,p.R75fs|uc002moa.3,p.R75fs|NM_133452,p.R75fs	retained_intron, protein_coding, nonsense_mediated_decay	uc002moa.3	frameshift insertion	exon1	c.223dupC	p.R75fs	KRLEHTERQFRNRRKILIRGLPGDV	KRLEHTERQFRNPPQDTDPGPPGGRDQPGST	6.0	1.0	unscreened	-	3879_19:10444011-10444011 ->G_KRLEHTERQFRNPPQDTDPGPPGGRDQPGST
10:30654148-30654148 C>T	0.0	3879	MELANOMA	-	-	-	-	GOLGA2P6	ENST00000358107,p.G39R|uc001ivb.4,p.G39R	protein_coding, processed_transcript	uc001ivb.4	nonsynonymous SNV	exon8	c.G115A	p.G39R	PEWLYGPPEGEGGPEGVGGETRASI	PEWLYGPPEGEGRPEGVGGETRASI	8.0	9.0	unscreened	-	3879_10:30654148-30654148 C>T_PEWLYGPPEGEGRPEGVGGETRASI
13:28979927-28979927 C>T	0.0	3879	MELANOMA	-	-	-	-	FLT1	uc001usb.3,p.G514E|NM_001160030,p.G514E|uc010aar.1,p.G514E|uc001usc.3,p.G514E|ENST00000282397,p.G514E|NM_001159920,p.G514E|ENST00000541932,p.G514E|NM_002019,p.G514E	protein_coding	uc010aar.1	nonsynonymous SNV	exon11	c.G1541A	p.G514E	IESITQRMAIIEGKNKMASTLVVAD	IESITQRMAIIEEKNKMASTLVVAD	7.0	6.0	unscreened	-	3879_13:28979927-28979927 C>T_IESITQRMAIIEEKNKMASTLVVAD
1:52442701-52442701 T>C	0.0	3879	MELANOMA	-	-	-	-	RAB3B	NM_002867,p.N30S|uc001cth.3,p.N30S|ENST00000371655,p.N30S	protein_coding	uc001cth.3	nonsynonymous SNV	exon2	c.A89G	p.N30S	NFDYMFKLLIIGNSSVGKTSFLFRY	NFDYMFKLLIIGSSSVGKTSFLFRY	5.0	4.0	unscreened	-	3879_1:52442701-52442701 T>C_NFDYMFKLLIIGSSSVGKTSFLFRY
1:36282635-36282635 C>T	1.0	3879	MELANOMA	-	-	-	-	AGO4	NM_017629,p.R58C|ENST00000373210,p.R58C|uc001bzj.2,p.R58C	protein_coding, processed_transcript	uc001bzj.2	nonsynonymous SNV	exon2	c.C172T	p.R58C	HYDVDIKPEKRPRRVNREVVDTMVR	HYDVDIKPEKRPCRVNREVVDTMVR	7.0	7.0	-	-	3879_1:36282635-36282635 C>T_HYDVDIKPEKRPCRVNREVVDTMVR
6:106968888-106968888 G>A	0.0	3879	MELANOMA	-	-	ID=COSM1071769;OCCURENCE=1(endometrium)	-	AIM1	ENST00000369066,p.A861T|uc003prh.3,p.A861T|NM_001624,p.A861T	protein_coding, processed_transcript	uc003prh.3	nonsynonymous SNV	exon2	c.G2581A	p.A861T	SPSVTSVNTMTTAFSTSQNGSLSQS	SPSVTSVNTMTTTFSTSQNGSLSQS	1.0	7.0	unscreened	-	3879_6:106968888-106968888 G>A_SPSVTSVNTMTTTFSTSQNGSLSQS
2:71709100-71709100 G>A	0.0	3879	MELANOMA	-	-	-	-	DYSF	NM_001130982,p.R80K|uc010fen.3,p.R80K|ENST00000258104,p.R79K|ENST00000394120,p.R80K|ENST00000409651,p.R80K|NM_001130981,p.R79K|ENST00000429174,p.R79K|NM_001130983,p.R80K|uc010fek.3,p.R80K|uc002sie.3,p.R79K|NM_001130980,p.R79K|ENST00000410020,p.R80K|NM_001130976,p.R79K|uc010fem.3,p.R80K|uc010fel.3,p.R80K|NM_001130985,p.R80K|uc010feh.3,p.R79K|uc010fej.3,p.R80K|ENST00000410041,p.R80K|NM_001130984,p.R80K|uc002sif.3,p.R80K|ENST00000409366,p.R80K|uc010feg.3,p.R79K|NM_001130979,p.R79K|NM_001130986,p.R80K|ENST00000413539,p.R79K|uc002sig.4,p.R79K|NM_001130987,p.R80K|uc010feo.3,p.R80K|ENST00000409762,p.R79K|ENST00000409582,p.R79K|ENST00000409744,p.R80K|NM_001130978,p.R79K|uc010fei.3,p.R79K|NM_003494,p.R79K|uc010fee.3,p.R79K|NM_001130455,p.R80K|uc010fef.3,p.R79K|NM_001130977,p.R79K	protein_coding, processed_transcript	uc010feo.3	nonsynonymous SNV	exon3	c.G239A	p.R80K	VVVKDHETMGRNRFLGEAKVPLREV	VVVKDHETMGRNKFLGEAKVPLREV	4.0	8.0	unscreened	-	3879_2:71709100-71709100 G>A_VVVKDHETMGRNKFLGEAKVPLREV
10:124390648-124390648 G>A	0.0	3879	MELANOMA	-	-	-	-	DMBT1	uc009yab.1,p.G640E|uc001lgk.1,p.G1937E|ENST00000359586,p.G657E|ENST00000344338,p.G1927E|ENST00000368955,p.G1927E|NM_017579,p.G1927E|uc009yac.1,p.G231E|uc021qah.1,p.G1309E|uc009xzz.1,p.G1937E|uc001lgm.1,p.G1309E|NM_007329,p.G1937E|NM_004406,p.G1309E|uc010qtx.1,p.G657E|ENST00000368956,p.G1309E|ENST00000368909,p.G1937E|ENST00000338354,p.G1937E|ENST00000330163,p.G1309E|uc001lgl.1,p.G1927E|uc021qaf.1,p.G1937E|uc021qag.1,p.G1927E	protein_coding	uc021qah.1	nonsynonymous SNV	exon33	c.G3926A	p.G1309E	RQLGCGRAVSALGNAYFGSGSGPIT	RQLGCGRAVSALENAYFGSGSGPIT	1.0	3.0	unscreened	-	3879_10:124390648-124390648 G>A_RQLGCGRAVSALENAYFGSGSGPIT
7:55259433-55259433 C>T	0.0	3879	MELANOMA	-	-	ID=COSM24846;OCCURENCE=1(pancreas),1(bone)	1	EGFR	NM_005228,p.R831C|uc022adn.1,p.R786C|uc022ado.1,p.R66C|uc010kzg.2,p.R786C|uc011kco.2,p.R778C|uc003tqk.3,p.R831C|ENST00000455089,p.R786C|uc022adm.1,p.R831C|ENST00000454757,p.R778C|ENST00000275493,p.R831C	retained_intron, protein_coding, processed_transcript	uc022ado.1	nonsynonymous SNV	exon2	c.C196T	p.R66C	VQIAKGMNYLEDRRLVHRDLAARNV	VQIAKGMNYLEDCRLVHRDLAARNV	2.0	2.0	unscreened	-	3879_7:55259433-55259433 C>T_VQIAKGMNYLEDCRLVHRDLAARNV
19:46095024-46095024 G>C	0.0	3879	MELANOMA	-	-	-	-	GPR4	uc002pcm.3,p.T34S|uc021uvw.1,p.T34S|NM_005282,p.T34S|ENST00000323040,p.T34S	protein_coding, processed_transcript	uc021uvw.1	nonsynonymous SNV	exon1	c.C101G	p.T34S	SLYIFVIGVGLPTNCLALWAAYRQV	SLYIFVIGVGLPSNCLALWAAYRQV	4.0	8.0	unscreened	-	3879_19:46095024-46095024 G>C_SLYIFVIGVGLPSNCLALWAAYRQV
3:121345584-121345584 G>A	0.0	3879	MELANOMA	-	-	-	-	FBXO40	ENST00000338040,p.E653K|uc003eeg.2,p.E653K|NM_016298,p.E653K	protein_coding	uc003eeg.2	nonsynonymous SNV	exon4	c.G1957A	p.E653K	QFSSLFSKIKSWEFNEVTSMSEHLK	QFSSLFSKIKSWKFNEVTSMSEHLK	1.0	9.0	unscreened	-	3879_3:121345584-121345584 G>A_QFSSLFSKIKSWKFNEVTSMSEHLK
1:152282996-152282996 C>T	0.0	3879	MELANOMA	-	-	-	-	FLG	ENST00000368799,p.G1456R|uc001ezu.1,p.G1456R|NM_002016,p.G1456R	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.G4366A	p.G1456R	QVSSHEQSESTHGQTAPSTGGRQGS	QVSSHEQSESTHRQTAPSTGGRQGS	1.0	1.0	unscreened	-	3879_1:152282996-152282996 C>T_QVSSHEQSESTHRQTAPSTGGRQGS
7:99370264-99370264 C>T	0.0	3879	MELANOMA	-	-	-	-	CYP3A4	NM_001202855,p.M89I|NM_017460,p.M89I|uc003urv.2,p.M89I|ENST00000336411,p.M89I|ENST00000415003,p.M102I|uc011kiz.2,p.M89I|uc003urw.2,p.M89I	retained_intron, protein_coding	uc011kiz.2	nonsynonymous SNV	exon4	c.G267A	p.M89I	GQQPVLAITDPDMIKTVLVKECYSV	GQQPVLAITDPDIIKTVLVKECYSV	1.0	4.0	unscreened	-	3879_7:99370264-99370264 C>T_GQQPVLAITDPDIIKTVLVKECYSV
4:70146759-70146759 G>A	0.0	3879	MELANOMA	-	-	ID=COSM3605261;OCCURENCE=1(urinary_tract)	-	UGT2B28	uc003hej.3,p.E181K|NM_053039,p.E181K|NM_001207004,p.E181K|uc010ihr.3,p.E181K|ENST00000511240,p.E181K|ENST00000335568,p.E181K	protein_coding	uc010ihr.3	nonsynonymous SNV	exon1	c.G541A	p.E181K	VYSLCFTPGYTIERHSGGLIFPPSY	VYSLCFTPGYTIKRHSGGLIFPPSY	1.0	7.0	unscreened	-	3879_4:70146759-70146759 G>A_VYSLCFTPGYTIKRHSGGLIFPPSY
4:184931879-184931879 G>A	0.0	3879	MELANOMA	-	-	-	-	STOX2	ENST00000438269,p.A630T|ENST00000308497,p.A630T|uc003iwa.1,p.A319T|uc003ivz.1,p.A630T|NM_020225,p.A630T	protein_coding, processed_transcript, nonsense_mediated_decay	uc003iwa.1	nonsynonymous SNV	exon1	c.G955A	p.A319T	GKNKEDHDTLTLAEGVKKLSPSDRQ	GKNKEDHDTLTLTEGVKKLSPSDRQ	3.0	9.0	unscreened	-	3879_4:184931879-184931879 G>A_GKNKEDHDTLTLTEGVKKLSPSDRQ
10:73056335-73056335 G>A	0.0	3879	MELANOMA	-	-	-	-	UNC5B	uc001jrp.3,p.E765K|NM_170744,p.E776K|uc001jro.3,p.E776K|ENST00000335350,p.E776K|ENST00000373192,p.E765K|NM_001244889,p.E765K	protein_coding	uc001jrp.3	nonsynonymous SNV	exon14	c.G2293A	p.E765K	AHWRSKLLAKYQEIPFYHIWSGSQK	AHWRSKLLAKYQKIPFYHIWSGSQK	4.0	9.0	unscreened	-	3879_10:73056335-73056335 G>A_AHWRSKLLAKYQKIPFYHIWSGSQK
17:66536100-66536100 C>T	0.0	3879	MELANOMA	-	-	-	-	FAM20A	ENST00000590873,p.G17R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000590873	nonsynonymous SNV	exon2	c.G49A	p.G17R	AEIAAFHLDREYGPAPL	AEIAAFHLDREYRPAPL	3.0	2.0	unscreened	-	3879_17:66536100-66536100 C>T_AEIAAFHLDREYRPAPL
2:207619739-207619739 G>T	0.0	3879	MELANOMA	-	-	-	-	MDH1B	uc021vvm.1,p.P204T|NM_001282940,p.P302T|ENST00000449792,p.P204T|uc002vbs.3,p.P302T|NM_001039845,p.P302T|uc010fui.3,p.P302T|ENST00000374412,p.P302T|ENST00000454776,p.P302T	retained_intron, protein_coding, nonsense_mediated_decay	uc021vvm.1	nonsynonymous SNV	exon4	c.C610A	p.P204T	AKAILARKLKTAPSYIKDVIIWGNI	AKAILARKLKTATSYIKDVIIWGNI	2.0	5.0	unscreened	-	3879_2:207619739-207619739 G>T_AKAILARKLKTATSYIKDVIIWGNI
7:100678106-100678106 G>A	0.0	3879	MELANOMA	-	-	-	-	MUC17	ENST00000306151,p.E1137K|uc003uxp.1,p.E1137K|NM_001040105,p.E1137K|ENST00000379439,p.E1137K	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.G3409A	p.E1137K	PVDTSIPVTTSTEASSSPTTAEGTS	PVDTSIPVTTSTKASSSPTTAEGTS	1.0	1.0	unscreened	-	3879_7:100678106-100678106 G>A_PVDTSIPVTTSTKASSSPTTAEGTS
11:35211573-35211573 C>T	1.0	3879	MELANOMA	-	-	-	-	CD44	NM_000610,p.P210S|uc001mvv.3,p.P210S|ENST00000525688,p.P49S|ENST00000434472,p.P210S|NM_001202557,p.P210S|uc001mvu.3,p.P210S|ENST00000531110,p.P84S|ENST00000428726,p.P210S|ENST00000449691,p.P210S|ENST00000263398,p.P210S|NM_001001391,p.P210S|uc021qfw.1,p.P210S|ENST00000433354,p.P210S|ENST00000360158,p.P210S|ENST00000415148,p.P210S|uc001mwc.4,p.P210S|ENST00000433892,p.P210S|uc010rer.2,p.P210S|NM_001001389,p.P210S|NM_001202555,p.P210S|NM_001202556,p.P210S|ENST00000352818,p.P210S|uc001mvx.3,p.P210S|uc001mvw.3,p.P210S|ENST00000533222,p.P43S|ENST00000437706,p.P210S|NM_001001390,p.P210S|ENST00000278385,p.P46S|ENST00000525211,p.P189S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qfw.1	nonsynonymous SNV	exon5	c.C628T	p.P210S	FSTVHPIPDEDSPWITDSTDRIPAT	FSTVHPIPDEDSSWITDSTDRIPAT	10.0	9.0	-	-	3879_11:35211573-35211573 C>T_FSTVHPIPDEDSSWITDSTDRIPAT
20:5282886-5282886 C>T	0.0	3879	MELANOMA	-	-	-	-	PROKR2	uc010zqw.2,p.E319K|uc010zqy.2,p.E319K|ENST00000217270,p.E319K|uc010zqx.2,p.E319K|NM_144773,p.E319K|ENST00000546004,p.E319K	protein_coding	uc010zqy.2	nonsynonymous SNV	exon3	c.G955A	p.E319K	KEKHYLTAFYVVECIAMSNSMINTV	KEKHYLTAFYVVKCIAMSNSMINTV	1.0	5.0	unscreened	-	3879_20:5282886-5282886 C>T_KEKHYLTAFYVVKCIAMSNSMINTV
15:75310760-75310760 G>A	0.0	3879	MELANOMA	-	-	-	-	SCAMP5	uc002azn.2,p.G141S|ENST00000562212,p.G141S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002azn.2	nonsynonymous SNV	exon6	c.G421A	p.G141S	WGVCPTLASSCSGWIATISFFGTNI	WGVCPTLASSCSSWIATISFFGTNI	2.0	7.0	unscreened	-	3879_15:75310760-75310760 G>A_WGVCPTLASSCSSWIATISFFGTNI
1:248028202-248028202 G>A	0.0	3879	MELANOMA	-	-	ID=COSM1690111;OCCURENCE=1(skin)	-	TRIM58	ENST00000366481,p.E238K|uc001ido.3,p.E238K|NM_015431,p.E238K	protein_coding	uc001ido.3	nonsynonymous SNV	exon3	c.G712A	p.E238K	SKALKELADELQERCQRPALGLLEG	SKALKELADELQKRCQRPALGLLEG	1.0	9.0	unscreened	-	3879_1:248028202-248028202 G>A_SKALKELADELQKRCQRPALGLLEG
5:93872730-93872730 A>C	1.0	3879	MELANOMA	-	-	-	-	KIAA0825	NM_173665,p.I34M|uc011cuk.2,p.I34M|NM_001145678,p.I34M|ENST00000427991,p.I34M|uc003kkp.2,p.I34M|ENST00000329378,p.I34M|ENST00000513200,p.I34M|ENST00000312498,p.I34M	retained_intron, protein_coding, processed_transcript	uc011cuk.2	nonsynonymous SNV	exon3	c.T102G	p.I34M	PGDLEFEQIFSDIDEKIEQNAASIK	PGDLEFEQIFSDMDEKIEQNAASIK	4.0	5.0	-	-	3879_5:93872730-93872730 A>C_PGDLEFEQIFSDMDEKIEQNAASIK
21:43829679-43829679 G>A	0.0	3879	MELANOMA	-	-	-	-	UBASH3A	uc010gpe.3,p.E106K|NM_018961,p.E106K|NM_001001895,p.E106K|ENST00000450356,p.E106K|ENST00000398367,p.E106K|uc002zbf.3,p.E106K|uc002zbe.3,p.E106K|ENST00000291535,p.E106K|ENST00000319294,p.E106K|NM_001243467,p.E106K	retained_intron, protein_coding	uc010gpe.3	nonsynonymous SNV	exon3	c.G316A	p.E106K	ESKRQCAKNRAHEVFPHVTLCDFFT	ESKRQCAKNRAHKVFPHVTLCDFFT	1.0	8.0	unscreened	-	3879_21:43829679-43829679 G>A_ESKRQCAKNRAHKVFPHVTLCDFFT
2:211158507-211158507 C>T	0.0	3879	MELANOMA	-	-	-	-	MYL1	ENST00000341685,p.E122K|uc002vec.3,p.E166K|uc002veb.3,p.E122K|ENST00000352451,p.E166K|NM_079422,p.E122K|NM_079420,p.E166K	protein_coding, processed_transcript	uc002vec.3	nonsynonymous SNV	exon5	c.G496A	p.E166K	HVLATLGEKMKEEEVEALMAGQEDS	HVLATLGEKMKEKEVEALMAGQEDS	1.0	4.0	unscreened	-	3879_2:211158507-211158507 C>T_HVLATLGEKMKEKEVEALMAGQEDS
12:52845469-52845469 G>A	0.0	3879	MELANOMA	-	-	-	-	KRT6B	ENST00000252252,p.P132S|uc001sak.3,p.P132S|NM_005555,p.P132S	protein_coding	uc001sak.3	nonsynonymous SNV	exon1	c.C394T	p.P132S	GGFGGPGFPVCPPGGIQEVTVNQSL	GGFGGPGFPVCPSGGIQEVTVNQSL	1.0	1.0	unscreened	-	3879_12:52845469-52845469 G>A_GGFGGPGFPVCPSGGIQEVTVNQSL
4:8009837-8009837 C>T	0.0	3879	MELANOMA	-	-	-	-	ABLIM2	ENST00000514025,p.G224R|ENST00000545242,p.G489R|uc003gks.3,p.G449R|ENST00000361581,p.G489R|NM_001130086,p.G437R|ENST00000546334,p.G448R|uc003gkj.4,p.G523R|NM_001286688,p.G224R|NM_001130088,p.G449R|uc003gkp.3,p.G448R|NM_001130087,p.G448R|ENST00000296372,p.G490R|NM_032432,p.G438R|uc003gko.3,p.G489R|ENST00000510277,p.G290R|ENST00000361737,p.G448R|uc003gkl.3,p.G217R|ENST00000428004,p.G449R|ENST00000407564,p.G438R|uc003gkk.3,p.G153R|ENST00000447017,p.G523R|uc003gkr.3,p.G438R|NM_001130085,p.G489R|ENST00000318888,p.G224R|uc003gkq.3,p.G489R|NM_001130083,p.G523R|ENST00000505872,p.G437R|NM_001130084,p.G489R|ENST00000341937,p.G489R|uc003gkm.4,p.G437R	retained_intron, protein_coding, processed_transcript	uc003gks.3	nonsynonymous SNV	exon14	c.G1345A	p.G449R	PDLDTQSLSHSSGTDRDPLQRMAGD	PDLDTQSLSHSSRTDRDPLQRMAGD	1.0	2.0	unscreened	-	3879_4:8009837-8009837 C>T_PDLDTQSLSHSSRTDRDPLQRMAGD
11:60637362-60637362 G>A	0.0	3879	MELANOMA	-	-	-	-	ZP1	NM_207341,p.R224Q|ENST00000278853,p.R224Q|uc001nqd.3,p.R224Q	retained_intron, protein_coding, nonsense_mediated_decay	uc001nqd.3	nonsynonymous SNV	exon3	c.G671A	p.R224Q	HWGTLEHWDVNKRDYIGTHLSQEQC	HWGTLEHWDVNKQDYIGTHLSQEQC	1.0	2.0	unscreened	-	3879_11:60637362-60637362 G>A_HWGTLEHWDVNKQDYIGTHLSQEQC
19:17000549-17000549 T>G	0.0	3879	MELANOMA	-	-	-	-	F2RL3	ENST00000599210,p.C91G	protein_coding	ENST00000599210	nonsynonymous SNV	exon2	c.T271G	p.C91G	CPPSMGWSWWWGCRPMGWRCGCWPR	CPPSMGWSWWWGGRPMGWRCGCWPR	1.0	1.0	unscreened	-	3879_19:17000549-17000549 T>G_CPPSMGWSWWWGGRPMGWRCGCWPR
17:41930307-41930307 C>T	0.0	3879	MELANOMA	-	-	-	-	CD300LG	ENST00000539718,p.P136L|ENST00000317310,p.P136L|uc010czk.3,p.P136L|NM_145273,p.P136L|NM_001168322,p.P136L|uc002iem.3,p.P136L	protein_coding, processed_transcript	uc010czk.3	nonsynonymous SNV	exon3	c.C407T	p.P136L	VFPGPCCPPSPSPTFQPLATTRLQP	VFPGPCCPPSPSLTFQPLATTRLQP	1.0	3.0	unscreened	-	3879_17:41930307-41930307 C>T_VFPGPCCPPSPSLTFQPLATTRLQP
1:233515204-233515204 G>A	0.0	3879	MELANOMA	-	-	-	-	KIAA1804	ENST00000366624,p.E818K|NM_032435,p.E818K|uc001hvt.4,p.E818K|ENST00000366622,p.E264K|uc001hvu.4,p.E264K	protein_coding	uc001hvu.4	nonsynonymous SNV	exon3	c.G790A	p.E264K	SFSTKCLLQMDSEDPLVDSAPVTCD	SFSTKCLLQMDSKDPLVDSAPVTCD	1.0	9.0	unscreened	-	3879_1:233515204-233515204 G>A_SFSTKCLLQMDSKDPLVDSAPVTCD
4:40440280-40440280 G>A	0.0	3879	MELANOMA	-	-	-	-	RBM47	uc003gvg.1,p.R211C|uc011bys.1,p.R173C|ENST00000319592,p.R211C|NM_019027,p.R211C|NM_001098634,p.R211C|uc003gvc.2,p.R211C|ENST00000514014,p.R173C|ENST00000381793,p.R211C|ENST00000295971,p.R211C|ENST00000381795,p.R211C|uc003gvd.2,p.R211C|ENST00000510871,p.R211C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bys.1	nonsynonymous SNV	exon3	c.C517T	p.R173C	VEYESHRAAAMARRKLMPGRIQLWG	VEYESHRAAAMACRKLMPGRIQLWG	1.0	8.0	unscreened	-	3879_4:40440280-40440280 G>A_VEYESHRAAAMACRKLMPGRIQLWG
19:23927274-23927274 G>A	0.0	3879	MELANOMA	-	-	-	-	ZNF681	uc002nrk.4,p.H360Y|NM_138286,p.H360Y|uc002nrj.4,p.H291Y|ENST00000402377,p.H360Y|uc002nrl.4,p.H291Y|ENST00000395385,p.H291Y	protein_coding	uc002nrl.4	nonsynonymous SNV	exon3	c.C871T	p.H291Y	NQSSHLTRHKIIHTGEKPYRCEECG	NQSSHLTRHKIIYTGEKPYRCEECG	2.0	2.0	unscreened	-	3879_19:23927274-23927274 G>A_NQSSHLTRHKIIYTGEKPYRCEECG
2:179585690-179585690 C>T	0.0	3879	MELANOMA	-	-	-	-	TTN	NM_001267550,p.G7686S|ENST00000591111,p.G7369S|NM_001256850,p.G7369S|uc031rqd.1,p.G7369S|ENST00000342992,p.G6442S|uc021vsy.2,p.G6442S|NM_133378,p.G6442S|uc031rqc.1,p.G7686S|uc002umz.1,p.G3103S|ENST00000589042,p.G7686S	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon77	c.G22105A	p.G7369S	EDSGDYICEAHNGVGDASCSTALTV	EDSGDYICEAHNSVGDASCSTALTV	1.0	4.0	unscreened	-	3879_2:179585690-179585690 C>T_EDSGDYICEAHNSVGDASCSTALTV
4:71510045-71510045 G>A	0.0	3879	MELANOMA	-	-	-	-	ENAM	ENST00000396073,p.E968K|NM_031889,p.E968K|uc011caw.1,p.E968K	retained_intron, protein_coding, processed_transcript	uc011caw.1	nonsynonymous SNV	exon9	c.G2902A	p.E968K	TPCSIKNQLGQKEIMPFPEASSLQS	TPCSIKNQLGQKKIMPFPEASSLQS	1.0	7.0	unscreened	-	3879_4:71510045-71510045 G>A_TPCSIKNQLGQKKIMPFPEASSLQS
9:113166749-113166749 G>A	0.0	3879	MELANOMA	-	-	-	-	SVEP1	ENST00000297826,p.S1101F|uc010mty.3,p.S1101F|ENST00000374469,p.S3152F|uc010mtz.3,p.S3175F|ENST00000401783,p.S3175F|NM_153366,p.S3175F	protein_coding, processed_transcript	uc010mtz.3	nonsynonymous SNV	exon39	c.C9524T	p.S3175F	CQKDGRWFPERISCSPKKCPLPENI	CQKDGRWFPERIFCSPKKCPLPENI	2.0	9.0	unscreened	-	3879_9:113166749-113166749 G>A_CQKDGRWFPERIFCSPKKCPLPENI
6:31084379-31084379 G>A	0.0	3879	MELANOMA	-	-	-	-	CDSN	uc003nsm.2,p.S338F|ENST00000376288,p.S338F|NM_001264,p.S338F	protein_coding	uc003nsm.2	nonsynonymous SNV	exon2	c.C1013T	p.S338F	KENPVKGSPGVPSFAAGPPISEGKY	KENPVKGSPGVPFFAAGPPISEGKY	1.0	1.0	unscreened	-	3879_6:31084379-31084379 G>A_KENPVKGSPGVPFFAAGPPISEGKY
2:74692302-74692302 C>T	1.0	3879	MELANOMA	-	-	-	-	MOGS	ENST00000409065,p.G25R|NM_006302,p.G25R|ENST00000535045,p.G25R|uc010ffj.3,p.G25R|uc010yru.1,p.G25R|ENST00000233616,p.G25R	retained_intron, protein_coding, processed_transcript	uc010yru.1	nonsynonymous SNV	exon1	c.G73A	p.G25R	AEGVRTAERAARGGPGRRDGRGGGP	AEGVRTAERAARRGPGRRDGRGGGP	7.0	9.0	-	-	3879_2:74692302-74692302 C>T_AEGVRTAERAARRGPGRRDGRGGGP
22:24580109-24580109 C>T	0.0	3879	MELANOMA	-	-	ID=COSM726146;OCCURENCE=1(lung)	-	SUSD2	NM_019601,p.P149S|ENST00000358321,p.P149S|uc002zzn.1,p.P149S	retained_intron, protein_coding	uc002zzn.1	nonsynonymous SNV	exon4	c.C445T	p.P149S	SFPRAGTWLAVHPNKVSMMEKSELV	SFPRAGTWLAVHSNKVSMMEKSELV	2.0	8.0	unscreened	-	3879_22:24580109-24580109 C>T_SFPRAGTWLAVHSNKVSMMEKSELV
19:35524823-35524823 C>T	0.0	3879	MELANOMA	-	-	-	-	SCN1B	uc002nxo.2,p.L210F|NM_199037,p.L210F|ENST00000415950,p.L210F	retained_intron, protein_coding	uc002nxo.2	nonsynonymous SNV	exon3	c.C628T	p.L210F	SPSCPLQLWPLFLSSPRRGQSMPVP	SPSCPLQLWPLFFSSPRRGQSMPVP	1.0	1.0	unscreened	-	3879_19:35524823-35524823 C>T_SPSCPLQLWPLFFSSPRRGQSMPVP
1:233514899-233514899 G>A	0.0	3879	MELANOMA	-	-	-	-	KIAA1804	NM_032435,p.R716K|uc001hvt.4,p.R716K|uc001hvu.4,p.R162K|ENST00000366624,p.R716K|ENST00000366622,p.R162K	protein_coding	uc001hvu.4	nonsynonymous SNV	exon3	c.G485A	p.R162K	MTPTNSLSRSPQRKKTESALYGCTV	MTPTNSLSRSPQKKKTESALYGCTV	1.0	1.0	unscreened	-	3879_1:233514899-233514899 G>A_MTPTNSLSRSPQKKKTESALYGCTV
5:140554029-140554029 C>T	0.0	3879	MELANOMA	-	-	-	-	PCDHB7	uc003lit.3,p.S538F|ENST00000231137,p.S538F|NM_018940,p.S538F	protein_coding	uc003lit.3	nonsynonymous SNV	exon1	c.C1613T	p.S538F	AFEFRVGATDRGSPALSSEALVRVL	AFEFRVGATDRGFPALSSEALVRVL	2.0	4.0	unscreened	-	3879_5:140554029-140554029 C>T_AFEFRVGATDRGFPALSSEALVRVL
1:160098770-160098770 G>A	0.0	3879	MELANOMA	-	-	-	-	ATP1A2	uc009wtg.1,p.G94E|uc001fvc.3,p.G406E|ENST00000361216,p.G406E|ENST00000392233,p.G406E|uc001fvb.2,p.G406E|NM_000702,p.G406E|uc001fvd.3,p.G142E	protein_coding, processed_transcript	uc009wtg.1	nonsynonymous SNV	exon2	c.G281A	p.G94E	QIHEADTTEDQSGATFDKRSPTWTA	QIHEADTTEDQSEATFDKRSPTWTA	1.0	8.0	unscreened	-	3879_1:160098770-160098770 G>A_QIHEADTTEDQSEATFDKRSPTWTA
13:35923313-35923313 G>A	1.0	3879	MELANOMA	-	-	-	2	NBEA	ENST00000310336,p.R1991K|ENST00000400445,p.R1991K|ENST00000540320,p.R1991K|uc010abi.3,p.R647K|uc021rid.1,p.R1991K|ENST00000379939,p.R1988K|NM_015678,p.R1991K	protein_coding, processed_transcript	uc021rid.1	nonsynonymous SNV	exon37	c.G5972A	p.R1991K	VRVANEAEFILNRQRAEDVHKHAEF	VRVANEAEFILNKQRAEDVHKHAEF	7.0	3.0	-	-	3879_13:35923313-35923313 G>A_VRVANEAEFILNKQRAEDVHKHAEF
2:179702041-179702041 G>A	0.0	3879	MELANOMA	-	-	-	-	CCDC141	ENST00000420890,p.S1302F|uc002unf.1,p.S781F|ENST00000295723,p.S727F|uc002une.2,p.S1302F|NM_173648,p.S1302F|ENST00000343876,p.S746F	protein_coding, processed_transcript	uc002unf.1	nonsynonymous SNV	exon13	c.C2342T	p.S781F	PYLQFKAEPPLTSRGFVEKSTALHR	PYLQFKAEPPLTFRGFVEKSTALHR	2.0	7.0	unscreened	-	3879_2:179702041-179702041 G>A_PYLQFKAEPPLTFRGFVEKSTALHR
5:14609047-14609047 C>T	0.0	3879	MELANOMA	-	-	-	-	FAM105A	uc003jfj.3,p.S273F|NM_019018,p.S273F|ENST00000274217,p.S273F	protein_coding, processed_transcript	uc003jfj.3	nonsynonymous SNV	exon7	c.C818T	p.S273F	KKVIPSLFRLLFSRETSSDPLSFMM	KKVIPSLFRLLFFRETSSDPLSFMM	1.0	7.0	unscreened	-	3879_5:14609047-14609047 C>T_KKVIPSLFRLLFFRETSSDPLSFMM
6:51612768-51612768 G>T	0.0	3879	MELANOMA	-	-	-	-	PKHD1	ENST00000371117,p.Q3216K|uc010jzn.1,p.Q1199K|uc003pah.1,p.Q3216K|NM_138694,p.Q3216K|NM_170724,p.Q3216K|ENST00000340994,p.Q3216K|uc003pai.3,p.Q3216K	protein_coding	uc010jzn.1	nonsynonymous SNV	exon22	c.C3595A	p.Q1199K	VIVATSSSFDCIQDKVKPHSANLTS	VIVATSSSFDCIKDKVKPHSANLTS	1.0	1.0	unscreened	-	3879_6:51612768-51612768 G>T_VIVATSSSFDCIKDKVKPHSANLTS
1:248085250-248085250 C>T	0.0	3879	MELANOMA	-	-	-	-	OR2T8	ENST00000319968,p.R311C|uc010pzc.2,p.R311C|NM_001005522,p.R311C	protein_coding	uc010pzc.2	nonsynonymous SNV	exon1	c.C931T	p.R311C	LTRCMGRCVALSRE	LTRCMGRCVALSCE	1.0	1.0	unscreened	-	3879_1:248085250-248085250 C>T_LTRCMGRCVALSCE
16:30976444-30976444 C>T	1.0	3879	MELANOMA	-	-	-	-	SETD1A	uc002ead.1,p.R461C|ENST00000262519,p.R461C|NM_014712,p.R461C	protein_coding	uc002ead.1	nonsynonymous SNV	exon7	c.C1381T	p.R461C	PSPEREEVRTSPRPASPARSGSPAP	PSPEREEVRTSPCPASPARSGSPAP	5.0	9.0	-	-	3879_16:30976444-30976444 C>T_PSPEREEVRTSPCPASPARSGSPAP
2:179435320-179435320 C>T	0.0	3879	MELANOMA	-	-	-	-	TTN	ENST00000342992,p.G22612E|uc021vta.2,p.G16240E|uc021vsz.2,p.G16307E|uc031rqd.1,p.G23539E|NM_001256850,p.G23539E|NM_133432,p.G16240E|uc031rqc.1,p.G25180E|NM_001267550,p.G25180E|uc021vtb.2,p.G16115E|uc021vsy.2,p.G22612E|ENST00000342175,p.G16307E|NM_133437,p.G16307E|ENST00000591111,p.G23539E|NM_133378,p.G22612E|ENST00000359218,p.G16240E|ENST00000460472,p.G16115E|ENST00000589042,p.G25180E|NM_003319,p.G16115E	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon276	c.G70616A	p.G23539E	SLSVKDAVRVDSGNYILKAKNVAGE	SLSVKDAVRVDSENYILKAKNVAGE	1.0	4.0	unscreened	-	3879_2:179435320-179435320 C>T_SLSVKDAVRVDSENYILKAKNVAGE
6:47678498-47678498 C>T	0.0	3879	MELANOMA	-	-	-	-	GPR115	uc003oza.1,p.S59F|NM_153838,p.S59F|ENST00000327753,p.S59F|uc003ozb.1,p.S59F|uc003oyz.1,p.S116F|ENST00000283303,p.S59F|ENST00000371220,p.S116F	protein_coding	uc003ozb.1	nonsynonymous SNV	exon4	c.C176T	p.S59F	RIQEKCEGPCISSSNCSQPCAKDFH	RIQEKCEGPCISFSNCSQPCAKDFH	1.0	1.0	unscreened	-	3879_6:47678498-47678498 C>T_RIQEKCEGPCISFSNCSQPCAKDFH
1:18807905-18807905 G>A	0.0	3879	MELANOMA	-	-	-	-	KLHDC7A	uc001bax.3,p.E144K|NM_152375,p.E144K|ENST00000400664,p.E144K	protein_coding	uc001bax.3	nonsynonymous SNV	exon1	c.G430A	p.E144K	DSEQVPPCCPSQETRTAVGSNPDPP	DSEQVPPCCPSQKTRTAVGSNPDPP	1.0	6.0	unscreened	-	3879_1:18807905-18807905 G>A_DSEQVPPCCPSQKTRTAVGSNPDPP
20:31695585-31695585 C>T	0.0	3879	MELANOMA	-	-	-	-	BPIFB4	ENST00000375483,p.L594F|NM_182519,p.L594F|uc010zue.2,p.L594F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zue.2	nonsynonymous SNV	exon15	c.C1780T	p.L594F	AVLGSGVPLPKILNIDFSNADIDVL	AVLGSGVPLPKIFNIDFSNADIDVL	1.0	3.0	unscreened	-	3879_20:31695585-31695585 C>T_AVLGSGVPLPKIFNIDFSNADIDVL
20:61594666-61594666 G>A	0.0	3879	MELANOMA	-	-	-	-	SLC17A9	uc002ydz.4,p.V218M|ENST00000370349,p.V218M|ENST00000370351,p.V224M|uc011aap.1,p.V244M	protein_coding, processed_transcript	uc011aap.1	nonsynonymous SNV	exon6	c.G730A	p.V244M	ILALGVLAQSRPVSRHNRVPWRRLF	ILALGVLAQSRPMSRHNRVPWRRLF	1.0	5.0	unscreened	-	3879_20:61594666-61594666 G>A_ILALGVLAQSRPMSRHNRVPWRRLF
11:44927971-44927971 G>A	0.0	3879	MELANOMA	-	-	-	-	TSPAN18	ENST00000520837,p.E12K|ENST00000520999,p.E12K	retained_intron, protein_coding	ENST00000520999	nonsynonymous SNV	exon5	c.G34A	p.E12K	MPEELPRWSTMEGDCLSCMKYLMF	MPEELPRWSTMKGDCLSCMKYLMF	3.0	9.0	unscreened	-	3879_11:44927971-44927971 G>A_MPEELPRWSTMKGDCLSCMKYLMF
4:25005316-25005316 C>T	0.0	3879	MELANOMA	-	-	-	-	LGI2	uc003grf.2,p.M465I|ENST00000382114,p.M465I|NM_018176,p.M465I	protein_coding	uc003grf.2	nonsynonymous SNV	exon8	c.G1395A	p.M465I	FVEIQALPSRGAMTLQPFSFKDNHY	FVEIQALPSRGAITLQPFSFKDNHY	1.0	5.0	unscreened	-	3879_4:25005316-25005316 C>T_FVEIQALPSRGAITLQPFSFKDNHY
9:34485435-34485435 G>A	0.0	3879	MELANOMA	-	-	-	-	DNAI1	ENST00000242317,p.E61K|NM_012144,p.E61K|uc011lom.1,p.E61K|ENST00000545019,p.E61K|NM_001281428,p.E61K|uc003zum.3,p.E61K|ENST00000437363,p.E50K	protein_coding, processed_transcript, nonsense_mediated_decay	uc011lom.1	nonsynonymous SNV	exon4	c.G181A	p.E61K	VRPPDQLELTDAELKEEFTRILTAN	VRPPDQLELTDAKLKEEFTRILTAN	1.0	6.0	unscreened	-	3879_9:34485435-34485435 G>A_VRPPDQLELTDAKLKEEFTRILTAN
17:56357995-56357995 G>A	0.0	3879	MELANOMA	-	-	-	-	MPO	ENST00000340482,p.T42M|ENST00000225275,p.T42M|NM_000250,p.T42M|uc002ivu.1,p.T42M	retained_intron, protein_coding, processed_transcript	uc002ivu.1	nonsynonymous SNV	exon1	c.C125T	p.T42M	LLALAGLLAILATPQPSEGAAPAVL	LLALAGLLAILAMPQPSEGAAPAVL	1.0	8.0	unscreened	-	3879_17:56357995-56357995 G>A_LLALAGLLAILAMPQPSEGAAPAVL
1:246755189-246755189 C>T	1.0	3879	MELANOMA	-	-	-	-	CNST	ENST00000366511,p.P109S|uc001ibp.3,p.P109S|ENST00000366513,p.P109S|uc001ibo.4,p.P109S|NM_152609,p.P109S|ENST00000366512,p.P109S|NM_001139459,p.P109S	protein_coding, processed_transcript	uc001ibp.3	nonsynonymous SNV	exon2	c.C325T	p.P109S	DEQAFLGKDKKIPGKRSPRSKKGTA	DEQAFLGKDKKISGKRSPRSKKGTA	10.0	9.0	-	-	3879_1:246755189-246755189 C>T_DEQAFLGKDKKISGKRSPRSKKGTA
1:34011696-34011696 G>A	0.0	3879	MELANOMA	-	-	ID=COSM1687364,COSM1687365;OCCURENCE=1(skin)	-	CSMD2	ENST00000241312,p.S2870L|NM_052896,p.S2870L|ENST00000373381,p.S3014L|NM_001281956,p.S3014L|uc001bxm.1,p.S3014L|uc001bxn.1,p.S2870L	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxn.1	nonsynonymous SNV	exon56	c.C8609T	p.S2870L	RFSCEAGHVLRGSSERTCQANGSWS	RFSCEAGHVLRGLSERTCQANGSWS	2.0	6.0	unscreened	-	3879_1:34011696-34011696 G>A_RFSCEAGHVLRGLSERTCQANGSWS
14:50472327-50472327 G>A	0.0	3879	MELANOMA	-	-	-	-	C14orf182	NM_001012706,p.P64L|uc001wxi.1,p.P64L|ENST00000399206,p.P64L	protein_coding, processed_transcript	uc001wxi.1	nonsynonymous SNV	exon1	c.C191T	p.P64L	HFVFLPLSSGAHPSVPPRRKNCAMK	HFVFLPLSSGAHLSVPPRRKNCAMK	3.0	3.0	unscreened	-	3879_14:50472327-50472327 G>A_HFVFLPLSSGAHLSVPPRRKNCAMK
14:24723373-24723373 T>C	0.0	3879	MELANOMA	-	-	-	-	TGM1	ENST00000206765,p.K737R|uc001wod.3,p.K737R|ENST00000544573,p.K295R|NM_000359,p.K737R|uc010tog.2,p.K295R	protein_coding	uc010tog.2	nonsynonymous SNV	exon8	c.A884G	p.K295R	VFRLEGSGLQRPKILNVGDIGGNET	VFRLEGSGLQRPRILNVGDIGGNET	1.0	3.0	unscreened	-	3879_14:24723373-24723373 T>C_VFRLEGSGLQRPRILNVGDIGGNET
14:92537386-92537388 TTT>-	0.0	3879	MELANOMA	-	-	ID=COSM1477849;OCCURENCE=2(NS),1(breast)	-	ATXN3	uc001yae.4,p.196_197del|NM_001164781,p.224_225del|uc021san.1,p.242_243del|ENST00000340660,p.239_240del|ENST00000393287,p.294_295del|uc021rys.1,p.196_197del|uc021ryy.1,p.173_174del|NM_001164779,p.173_174del|uc021rzo.1,p.294_295del|NM_001164780,p.115_116del|uc021sao.1,p.228_229del|NM_030660,p.239_240del|uc021rze.1,p.115_116del|uc021sae.1,p.293_294del|uc001yac.4,p.294_295del|uc010aug.3,p.279_280del|uc021sar.1,p.136_137del|NM_001127696,p.279_280del|NM_001127697,p.243_244del|NM_004993,p.294_295del|ENST00000502250,p.115_116del|uc010twl.2,p.115_116del|ENST00000503767,p.279_280del|uc021ryu.1,p.243_244del|uc021rzp.1,p.196_197del|ENST00000532032,p.294_295del|uc001yad.4,p.239_240del|uc021rzv.1,p.249_250del|uc021sal.1,p.196_197del|uc021sag.1,p.188_189del|uc021ryx.1,p.224_225del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021sar.1	nonframeshift deletion	exon5	c.408_410del	p.136_137del	RKRREAYFEKQQQKQQQQQQQQQQG	RKRREAYFEKQQQQQQQQQQQQQGD	8.0	1.0	unscreened	-	3879_14:92537386-92537388 TTT>-_RKRREAYFEKQQQQQQQQQQQQQGD
19:36564297-36564297 C>T	0.0	3879	MELANOMA	-	-	-	-	WDR62	ENST00000587391,p.T366I|uc002odc.2,p.T366I|ENST00000388999,p.T366I|uc002odd.2,p.T366I|NM_173636,p.T366I|uc002odb.2,p.T366I|ENST00000270301,p.T366I|ENST00000401500,p.T366I|NM_001083961,p.T366I	protein_coding, processed_transcript, nonsense_mediated_decay	uc002odd.2	nonsynonymous SNV	exon9	c.C1097T	p.T366I	KAEAVYPDTVALTFDPIHQWLSCVY	KAEAVYPDTVALIFDPIHQWLSCVY	3.0	5.0	unscreened	-	3879_19:36564297-36564297 C>T_KAEAVYPDTVALIFDPIHQWLSCVY
7:45216911-45216911 G>A	0.0	3879	MELANOMA	-	-	-	-	RAMP3	uc003tnb.3,p.G21E|ENST00000481345,p.G21E|NM_005856,p.G21E|ENST00000496212,p.G21E|ENST00000242249,p.G21E	protein_coding	uc003tnb.3	nonsynonymous SNV	exon2	c.G62A	p.G21E	PQLLPLLLLLCGGCPRAGGCNETGM	PQLLPLLLLLCGECPRAGGCNETGM	1.0	8.0	unscreened	-	3879_7:45216911-45216911 G>A_PQLLPLLLLLCGECPRAGGCNETGM
1:152957789-152957789 C>T	0.0	3879	MELANOMA	-	-	-	-	SPRR1A	ENST00000368762,p.P28L|uc001faw.3,p.P28L|ENST00000307122,p.P28L|NM_005987,p.P28L|NM_001199828,p.P28L|uc021ozn.1,p.P28L|uc009wnu.2,p.P28L	protein_coding	uc021ozn.1	nonsynonymous SNV	exon1	c.C83T	p.P28L	PQQQQVKQPCQPPPQEPCIPKTKEP	PQQQQVKQPCQPLPQEPCIPKTKEP	1.0	1.0	unscreened	-	3879_1:152957789-152957789 C>T_PQQQQVKQPCQPLPQEPCIPKTKEP
10:46999070-46999070 G>A	0.0	3879	MELANOMA	-	-	-	-	GPRIN2	NM_014696,p.E64K|uc021ppt.1,p.E64K|ENST00000374314,p.E64K|ENST00000374317,p.E64K|uc001jec.3,p.E64K	protein_coding	uc021ppt.1	nonsynonymous SNV	exon1	c.G190A	p.E64K	LGEASTRPQAPEEEGNPPESMKPAR	LGEASTRPQAPEKEGNPPESMKPAR	1.0	1.0	unscreened	-	3879_10:46999070-46999070 G>A_LGEASTRPQAPEKEGNPPESMKPAR
7:150439772-150439772 G>A	0.0	3879	MELANOMA	-	-	-	-	GIMAP1-GIMAP5,GIMAP5	NM_001199577,p.R386K|uc003whr.2,p.R182K|NM_018384,p.R182K|ENST00000358647,p.R182K|uc022apw.1,p.R386K	retained_intron, protein_coding, processed_transcript	uc022apw.1	nonsynonymous SNV	exon6	c.G1157A	p.R386K	NCSLKDLVRECERRYCAFNNWGSVE	NCSLKDLVRECEKRYCAFNNWGSVE	4.0	3.0	unscreened	-	3879_7:150439772-150439772 G>A_NCSLKDLVRECEKRYCAFNNWGSVE
6:32052480-32052480 T>A	0.0	3879	MELANOMA	-	-	-	-	TNXB	ENST00000375244,p.D1052V|ENST00000375247,p.D1052V|uc003nzl.2,p.D1052V|NM_019105,p.D1052V	retained_intron, protein_coding	uc003nzl.2	nonsynonymous SNV	exon8	c.A3155T	p.D1052V	SDPIIYQGIMDKDEEKPGKSSGPPR	SDPIIYQGIMDKVEEKPGKSSGPPR	2.0	2.0	unscreened	-	3879_6:32052480-32052480 T>A_SDPIIYQGIMDKVEEKPGKSSGPPR
12:71532000-71532000 C>T	0.0	3879	MELANOMA	-	-	-	-	TSPAN8	ENST00000552128,p.G8D	retained_intron, protein_coding, processed_transcript	ENST00000552128	nonsynonymous SNV	exon2	c.G23A	p.G8D	MNPSFFIGLLLILLLQVATG	MNPSFFIDLLLILLLQVATG	1.0	6.0	unscreened	-	3879_12:71532000-71532000 C>T_MNPSFFIDLLLILLLQVATG
1:207785198-207785198 G>A	0.0	3879	MELANOMA	-	-	-	-	CR1	uc001hfx.3,p.V2158M|ENST00000367053,p.V1708M|ENST00000400960,p.V1708M|NM_000651,p.V2158M|uc021pij.1,p.V1708M|ENST00000367051,p.V1708M|ENST00000367049,p.V2158M|ENST00000367052,p.V1708M|NM_000573,p.V1708M|uc001hfy.3,p.V1708M	retained_intron, protein_coding, processed_transcript	uc021pij.1	nonsynonymous SNV	exon30	c.G5122A	p.V1708M	QGDWSPEAPRCTVKSCDDFLGQLPH	QGDWSPEAPRCTMKSCDDFLGQLPH	1.0	1.0	unscreened	-	3879_1:207785198-207785198 G>A_QGDWSPEAPRCTMKSCDDFLGQLPH
16:81303869-81303869 G>A	0.0	3879	MELANOMA	-	-	-	-	BCO1	ENST00000425577,p.G248S|ENST00000258168,p.G317S|NM_017429,p.G317S|uc002fgn.1,p.G317S|uc010vnp.1,p.G248S	protein_coding, nonsense_mediated_decay	uc010vnp.1	nonsynonymous SNV	exon6	c.G742A	p.G248S	VVFHHVNAYEEDGCIVFDVIAYEDN	VVFHHVNAYEEDSCIVFDVIAYEDN	1.0	5.0	unscreened	-	3879_16:81303869-81303869 G>A_VVFHHVNAYEEDSCIVFDVIAYEDN
7:43531690-43531690 G>A	0.0	3879	MELANOMA	-	-	-	-	HECW1	ENST00000453890,p.R1050K|ENST00000395891,p.R1084K|uc003tid.1,p.R1084K|NM_001287059,p.R1050K|NM_015052,p.R1084K|uc011kbi.1,p.R1050K	protein_coding, processed_transcript	uc011kbi.1	nonsynonymous SNV	exon16	c.G3149A	p.R1050K	RSYSAGEASEVSRNRGASLLARPGH	RSYSAGEASEVSKNRGASLLARPGH	1.0	5.0	unscreened	-	3879_7:43531690-43531690 G>A_RSYSAGEASEVSKNRGASLLARPGH
2:196636507-196636507 C>T	0.0	3879	MELANOMA	-	-	-	-	DNAH7	uc002utj.4,p.M3770I|uc002uti.4,p.M253I|NM_018897,p.M3770I|ENST00000409063,p.M253I|ENST00000312428,p.M3770I	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon61	c.G11310A	p.M3770I	GKLPNNFDIEAAMRRYPTTYTQSMN	GKLPNNFDIEAAIRRYPTTYTQSMN	1.0	4.0	unscreened	-	3879_2:196636507-196636507 C>T_GKLPNNFDIEAAIRRYPTTYTQSMN
1:216419965-216419965 G>A	0.0	3879	MELANOMA	-	-	-	-	USH2A	uc001hku.1,p.P924L|NM_206933,p.P924L|uc001hkv.3,p.P924L|ENST00000307340,p.P924L|NM_007123,p.P924L|ENST00000366942,p.P924L|ENST00000366943,p.P924L	retained_intron, protein_coding	uc001hkv.3	nonsynonymous SNV	exon13	c.C2771T	p.P924L	ICDPISGQCLCVPNRQGRRCNQCQP	ICDPISGQCLCVLNRQGRRCNQCQP	1.0	1.0	unscreened	-	3879_1:216419965-216419965 G>A_ICDPISGQCLCVLNRQGRRCNQCQP
14:92537386-92537388 TTT>-	0.0	3879	MELANOMA	-	-	ID=COSM1477849;OCCURENCE=2(NS),1(breast)	-	ATXN3	ENST00000429774,p.287_288del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000429774	nonframeshift deletion	exon10	c.861_863del	p.287_288del	EKDQHFHILKQQQKQQQQQQQQQQG	EKDQHFHILKQQQQQQQQQQQQQGD	8.0	1.0	unscreened	-	3879_14:92537386-92537388 TTT>-_EKDQHFHILKQQQQQQQQQQQQQGD
19:52129340-52129340 G>A	0.0	3879	MELANOMA	-	-	-	-	SIGLEC5	uc002pxe.4,p.A470V|ENST00000534261,p.A470V|ENST00000599649,p.A470V|NM_003830,p.A470V|ENST00000222107,p.A470V|ENST00000570106,p.A470V|ENST00000429354,p.A470V	protein_coding	uc002pxe.4	nonsynonymous SNV	exon8	c.C1409T	p.A470V	FFLIVKARRKQAAGRPEKMDDEDPI	FFLIVKARRKQAVGRPEKMDDEDPI	1.0	9.0	unscreened	-	3879_19:52129340-52129340 G>A_FFLIVKARRKQAVGRPEKMDDEDPI
5:35873654-35873654 A>G	0.0	3879	MELANOMA	-	-	-	1	IL7R	ENST00000343305,p.K204E|ENST00000506850,p.K204E|uc011coo.3,p.K204E|ENST00000303115,p.K204E|NM_002185,p.K204E|uc003jjs.4,p.K204E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011coo.3	nonsynonymous SNV	exon5	c.A610G	p.K204E	QRKLQPAAMYEIKVRSIPDHYFKGF	QRKLQPAAMYEIEVRSIPDHYFKGF	1.0	5.0	unscreened	-	3879_5:35873654-35873654 A>G_QRKLQPAAMYEIEVRSIPDHYFKGF
10:105361905-105361905 C>T	0.0	3879	MELANOMA	-	-	-	-	SH3PXD2A	ENST00000369774,p.A1024T|ENST00000538130,p.A859T|uc010qqt.1,p.A873T|uc001kxj.1,p.A996T|ENST00000355946,p.A996T|NM_014631,p.A996T|uc010qqs.1,p.A831T|uc010qqu.1,p.A939T|ENST00000540321,p.A891T|uc009xxn.1,p.A831T	protein_coding	uc010qqu.1	nonsynonymous SNV	exon12	c.G2815A	p.A939T	VRRNSSFSTARSAAAEAKGRLAERA	VRRNSSFSTARSTAAEAKGRLAERA	7.0	7.0	unscreened	-	3879_10:105361905-105361905 C>T_VRRNSSFSTARSTAAEAKGRLAERA
1:155171798-155171798 C>T	1.0	3879	MELANOMA	-	-	-	-	THBS3	NM_007112,p.D376N|uc010pfu.2,p.D256N|ENST00000428962,p.D226N|NM_001252607,p.D367N|ENST00000457183,p.D256N|NM_001252608,p.D256N|uc009wqi.3,p.D367N|ENST00000368378,p.D376N|uc001fix.3,p.D376N	protein_coding, processed_transcript	uc010pfu.2	nonsynonymous SNV	exon8	c.G766A	p.D256N	SKQVCNDIDECNDGNNGGCDPNSIC	SKQVCNDIDECNNGNNGGCDPNSIC	6.0	1.0	-	-	3879_1:155171798-155171798 C>T_SKQVCNDIDECNNGNNGGCDPNSIC
20:61594666-61594666 G>A	0.0	3879	MELANOMA	-	-	-	-	SLC17A9	uc002yea.4,p.V224M|NM_022082,p.V224M	protein_coding, processed_transcript	uc002yea.4	nonsynonymous SNV	exon6	c.G670A	p.V224M	ILALGVLAQSRPVSRHSRVPWRRLF	ILALGVLAQSRPMSRHSRVPWRRLF	1.0	5.0	unscreened	-	3879_20:61594666-61594666 G>A_ILALGVLAQSRPMSRHSRVPWRRLF
14:92537386-92537388 TTT>-	0.0	3879	MELANOMA	-	-	ID=COSM1477849;OCCURENCE=2(NS),1(breast)	-	ATXN3	uc021sai.1,p.178_179del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021sai.1	nonframeshift deletion	exon8	c.533_535del	p.178_179del	ISQDMTQTSDSSKSSNSSSSSSSRG	ISQDMTQTSDSSSSNSSSSSSSRGT	8.0	1.0	unscreened	-	3879_14:92537386-92537388 TTT>-_ISQDMTQTSDSSSSNSSSSSSSRGT
12:11461617-11461617 T>A	0.0	3879	MELANOMA	-	-	-	-	PRB4	uc001qzf.2,p.E100D|ENST00000445719,p.E100D|NM_002723,p.E100D|uc001qzt.4,p.E100D|NM_001261399,p.E100D|ENST00000279575,p.E100D|uc031qgh.1,p.E100D|ENST00000535904,p.E100D	protein_coding	uc031qgh.1	nonsynonymous SNV	exon3	c.A300T	p.E100D	QSQGPPPHPGKPERPPPQGGNQSQG	QSQGPPPHPGKPDRPPPQGGNQSQG	1.0	1.0	unscreened	-	3879_12:11461617-11461617 T>A_QSQGPPPHPGKPDRPPPQGGNQSQG
17:72613293-72613293 C>T	0.0	3879	MELANOMA	-	-	ID=COSM1589188,COSM984090;OCCURENCE=2(endometrium)	-	CD300E	ENST00000392619,p.D145N|uc002jlb.2,p.D118N|ENST00000426295,p.D159N|NM_181449,p.D118N|ENST00000328630,p.D118N	protein_coding	uc002jlb.2	nonsynonymous SNV	exon2	c.G352A	p.D118N	IQTVWVLDSWSRDPSDLVRVYVSPA	IQTVWVLDSWSRNPSDLVRVYVSPA	1.0	3.0	unscreened	-	3879_17:72613293-72613293 C>T_IQTVWVLDSWSRNPSDLVRVYVSPA
14:92537386-92537388 TTT>-	0.0	3879	MELANOMA	-	-	ID=COSM1477849;OCCURENCE=2(NS),1(breast)	-	ATXN3	ENST00000545170,p.303_304del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000545170	nonframeshift deletion	exon10	c.909_911del	p.303_304del	KIYFTFECFRQQQKQQQQQQQQQQG	KIYFTFECFRQQQQQQQQQQQQQGD	8.0	1.0	unscreened	-	3879_14:92537386-92537388 TTT>-_KIYFTFECFRQQQQQQQQQQQQQGD
1:152187594-152187594 C>T	0.0	3879	MELANOMA	-	-	-	-	HRNR	NM_001009931,p.G2171S|ENST00000368801,p.G2171S|uc001ezt.2,p.G2171S	protein_coding	uc001ezt.2	nonsynonymous SNV	exon3	c.G6511A	p.G2171S	YGQHGSGSRQSSGHGRQGSGSGHSP	YGQHGSGSRQSSSHGRQGSGSGHSP	1.0	1.0	unscreened	-	3879_1:152187594-152187594 C>T_YGQHGSGSRQSSSHGRQGSGSGHSP
19:54783383-54783383 C>T	0.0	3879	MELANOMA	-	-	-	-	LILRB2	ENST00000391746,p.G159R|uc002qfc.3,p.G159R|uc002qfb.3,p.G159R|ENST00000434421,p.G43R|ENST00000391748,p.G159R|uc010eri.3,p.G159R|uc010yet.2,p.G43R|ENST00000314446,p.G159R|ENST00000391749,p.G159R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yet.2	nonsynonymous SNV	exon4	c.G127A	p.G43R	QVAFGGFILCKEGEEEHPQCLNSQP	QVAFGGFILCKEREEEHPQCLNSQP	1.0	5.0	unscreened	-	3879_19:54783383-54783383 C>T_QVAFGGFILCKEREEEHPQCLNSQP
1:176681049-176681049 G>A	0.0	3879	MELANOMA	-	-	-	-	PAPPA2	ENST00000367662,p.E1244K|NM_020318,p.E1244K|uc001gkz.3,p.E1244K	protein_coding, processed_transcript	uc001gkz.3	nonsynonymous SNV	exon12	c.G3730A	p.E1244K	LTGWFPCVASENETQDDRSEQPEGS	LTGWFPCVASENKTQDDRSEQPEGS	1.0	1.0	unscreened	-	3879_1:176681049-176681049 G>A_LTGWFPCVASENKTQDDRSEQPEGS
1:152189004-152189004 C>T	1.0	3879	MELANOMA	-	-	-	-	HRNR	NM_001009931,p.G1701S|ENST00000368801,p.G1701S|uc001ezt.2,p.G1701S	protein_coding	uc001ezt.2	nonsynonymous SNV	exon3	c.G5101A	p.G1701S	YGQHGSGSRQSSGHGRQGSGSGQSP	YGQHGSGSRQSSSHGRQGSGSGQSP	1.0	1.0	-	-	3879_1:152189004-152189004 C>T_YGQHGSGSRQSSSHGRQGSGSGQSP
3:138033203-138033203 C>T	0.0	3879	MELANOMA	-	-	ID=COSM1039016;OCCURENCE=1(endometrium)	-	NME9	ENST00000341790,p.G81E|ENST00000333911,p.G144E|uc003ese.1,p.G83E|ENST00000484930,p.G81E|ENST00000383180,p.G83E|uc010huf.1,p.G59E|ENST00000536478,p.G83E|NM_178130,p.G83E|ENST00000475751,p.G144E|ENST00000317876,p.G83E|uc003esg.3,p.G144E|ENST00000492993,p.G83E	retained_intron, protein_coding, nonsense_mediated_decay	uc010huf.1	nonsynonymous SNV	exon3	c.G176A	p.G59E	EALSDEDECVSHGKNNGEDEDMVSS	EALSDEDECVSHEKNNGEDEDMVSS	1.0	9.0	unscreened	-	3879_3:138033203-138033203 C>T_EALSDEDECVSHEKNNGEDEDMVSS
5:35795839-35795839 A>T	0.0	3879	MELANOMA	-	-	-	-	SPEF2	uc003jjr.3,p.K646I|uc003jjp.1,p.K1077I|ENST00000440995,p.K1586I|ENST00000303129,p.K388I|ENST00000356031,p.K1591I|NM_024867,p.K1591I|uc003jjo.3,p.K1591I	retained_intron, protein_coding, nonsense_mediated_decay	uc003jjr.3	nonsynonymous SNV	exon11	c.A1937T	p.K646I	QAGLWFTGDEDIKIPENPLEPLPFN	QAGLWFTGDEDIIIPENPLEPLPFN	5.0	4.0	unscreened	-	3879_5:35795839-35795839 A>T_QAGLWFTGDEDIIIPENPLEPLPFN
18:627376-627376 G>A	0.0	3879	MELANOMA	-	-	-	-	CLUL1	ENST00000540035,p.E287K|NM_199167,p.E235K|ENST00000581619,p.E260K|ENST00000579494,p.E235K|NM_014410,p.E235K|ENST00000400606,p.E235K|ENST00000338387,p.E235K|uc002kkp.3,p.E235K|uc010wys.2,p.E287K|NM_001289036,p.E287K|uc002kkq.3,p.E235K	retained_intron, protein_coding, processed_transcript	uc010wys.2	nonsynonymous SNV	exon7	c.G859A	p.E287K	LTEPYFFPAFSKEPMTKADLEQCWD	LTEPYFFPAFSKKPMTKADLEQCWD	4.0	9.0	unscreened	-	3879_18:627376-627376 G>A_LTEPYFFPAFSKKPMTKADLEQCWD
1:158653210-158653210 ->T	0.0	3879	MELANOMA	-	-	-	-	SPTA1	ENST00000368148,p.T114fs|ENST00000368147,p.T114fs|uc001fst.1,p.T114fs|NM_003126,p.T114fs	protein_coding, processed_transcript	uc001fst.1	frameshift insertion	exon3	c.340dupA	p.T114fs	QTKSRLMSELEKTREERFTMGHSAH	QTKSRLMSELEKNKGRTIYHGSFCPRRNEGPYRGATPPVGPAVRADPGEG	2.0	3.0	unscreened	-	3879_1:158653210-158653210 ->T_QTKSRLMSELEKNKGRTIYHGSFCPRRNEGPYRGATPPVGPAVRADPGEG
17:7943291-7943291 G>A	0.0	3879	MELANOMA	-	-	-	-	ALOX15B	uc002gjw.3,p.E147K|ENST00000380183,p.E147K|ENST00000380173,p.E147K|uc010vun.2,p.E147K|ENST00000572022,p.E147K|ENST00000573359,p.E147K|uc002gju.3,p.E147K|NM_001141,p.E147K|uc002gjv.3,p.E147K|NM_001039131,p.E147K|NM_001039130,p.E147K	retained_intron, protein_coding	uc010vun.2	nonsynonymous SNV	exon3	c.G439A	p.E147K	QQQRQEELQARQEMYQWKAYNPGWP	QQQRQEELQARQKMYQWKAYNPGWP	1.0	9.0	unscreened	-	3879_17:7943291-7943291 G>A_QQQRQEELQARQKMYQWKAYNPGWP
6:49754516-49754516 C>T	0.0	3879	MELANOMA	-	-	-	-	PGK2	ENST00000304801,p.E129K|NM_138733,p.E129K|uc003ozu.3,p.E129K	protein_coding	uc003ozu.3	nonsynonymous SNV	exon1	c.G385A	p.E129K	ILLENLRFHVEEEGKGQDPSGKKIK	ILLENLRFHVEEKGKGQDPSGKKIK	1.0	9.0	unscreened	-	3879_6:49754516-49754516 C>T_ILLENLRFHVEEKGKGQDPSGKKIK
2:141777534-141777534 C>T	0.0	3879	MELANOMA	-	-	-	1	LRP1B	NM_018557,p.E643K|uc002tvj.1,p.E643K|ENST00000389484,p.E643K	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon12	c.G1927A	p.E643K	KASQSRKTLLEGEMSHPRGIVVDPV	KASQSRKTLLEGKMSHPRGIVVDPV	1.0	2.0	unscreened	-	3879_2:141777534-141777534 C>T_KASQSRKTLLEGKMSHPRGIVVDPV
19:22940154-22940154 G>A	0.0	3879	MELANOMA	-	-	-	-	ZNF99	ENST00000596209,p.L853F|uc021urt.1,p.L853F|NM_001080409,p.L853F	protein_coding	uc021urt.1	nonsynonymous SNV	exon4	c.C2557T	p.L853F	ERNPANVKNVAKLLNISQPLENMR	ERNPANVKNVAKFLNISQPLENMR	1.0	6.0	unscreened	-	3879_19:22940154-22940154 G>A_ERNPANVKNVAKFLNISQPLENMR
7:53103926-53103926 G>A	0.0	3879	MELANOMA	-	-	ID=COSM1622967;OCCURENCE=2(liver)	-	POM121L12	uc003tpz.3,p.G188R|ENST00000408890,p.G188R|NM_182595,p.G188R	protein_coding	uc003tpz.3	nonsynonymous SNV	exon1	c.G562A	p.G188R	ETLLGALSQCPKGSARFDGPLWFEV	ETLLGALSQCPKRSARFDGPLWFEV	1.0	6.0	unscreened	-	3879_7:53103926-53103926 G>A_ETLLGALSQCPKRSARFDGPLWFEV
5:31317546-31317546 C>T	0.0	3879	MELANOMA	-	-	ID=COSM1685969;OCCURENCE=2(skin)	-	CDH6	ENST00000514738,p.S471F|uc003jhd.2,p.S526F|uc003jhe.2,p.S526F|ENST00000265071,p.S526F|NM_004932,p.S526F	retained_intron, protein_coding	uc003jhe.2	nonsynonymous SNV	exon10	c.C1577T	p.S526F	KDDPYSGHQFSFSLAPEAASGSNFT	KDDPYSGHQFSFFLAPEAASGSNFT	4.0	6.0	unscreened	-	3879_5:31317546-31317546 C>T_KDDPYSGHQFSFFLAPEAASGSNFT
4:126369694-126369694 G>A	0.0	3879	MELANOMA	-	-	-	1	FAT4	ENST00000394329,p.R2508K|NM_024582,p.R2508K|NM_001291303,p.R2510K|uc011cgp.2,p.R806K|ENST00000335110,p.R806K|NM_001291285,p.R2510K|uc003ifj.4,p.R2508K	retained_intron, protein_coding	uc011cgp.2	nonsynonymous SNV	exon9	c.G2417A	p.R806K	GPNSELHYSLSGRNSEKFHIDPLRG	GPNSELHYSLSGKNSEKFHIDPLRG	2.0	8.0	unscreened	-	3879_4:126369694-126369694 G>A_GPNSELHYSLSGKNSEKFHIDPLRG
1:8421316-8421316 G>A	1.0	3879	MELANOMA	-	-	-	-	RERE	ENST00000377464,p.P483S|NM_012102,p.P751S|uc001ape.3,p.P751S|NM_001042682,p.P197S|ENST00000337907,p.P751S|uc010nzx.1,p.P483S|ENST00000400908,p.P751S|uc001apf.3,p.P751S|uc001apd.3,p.P197S|NM_001042681,p.P751S|ENST00000476556,p.P197S	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc010nzx.1	nonsynonymous SNV	exon12	c.C1447T	p.P483S	PALQAPTGVTPAPSSAPPGTPQLPT	PALQAPTGVTPASSSAPPGTPQLPT	9.0	8.0	-	-	3879_1:8421316-8421316 G>A_PALQAPTGVTPASSSAPPGTPQLPT
12:52864354-52864354 C>T	0.0	3879	MELANOMA	-	-	-	-	KRT6C	ENST00000252250,p.E380K|uc001sal.4,p.E380K|NM_173086,p.E380K	retained_intron, protein_coding	uc001sal.4	nonsynonymous SNV	exon6	c.G1138A	p.E380K	GRHGDDLRNTKQEIAEINRMIQRLR	GRHGDDLRNTKQKIAEINRMIQRLR	1.0	4.0	unscreened	-	3879_12:52864354-52864354 C>T_GRHGDDLRNTKQKIAEINRMIQRLR
1:32280183-32280183 G>A	0.0	3879	MELANOMA	-	-	-	-	SPOCD1	NM_144569,p.S251F|ENST00000373648,p.S251F|uc001bts.1,p.S251F|uc001btu.3,p.S251F|ENST00000360482,p.S251F|ENST00000533231,p.S251F|NM_001281987,p.S251F	retained_intron, protein_coding	uc001btu.3	nonsynonymous SNV	exon2	c.C752T	p.S251F	SVGDPPQVADLESLGGPCRPPSPKD	SVGDPPQVADLEFLGGPCRPPSPKD	3.0	2.0	unscreened	-	3879_1:32280183-32280183 G>A_SVGDPPQVADLEFLGGPCRPPSPKD
2:51255272-51255272 T>C	0.0	3879	MELANOMA	-	-	-	-	NRXN1	ENST00000405581,p.N47S|ENST00000401669,p.N47S|uc021vhj.1,p.N47S|uc021vhi.1,p.N47S|uc021vhg.1,p.N47S|ENST00000405472,p.N47S|NM_004801,p.N47S|ENST00000406316,p.N47S|NM_001135659,p.N47S|ENST00000402717,p.N47S|ENST00000406859,p.N47S|uc021vhk.1,p.N47S|ENST00000404971,p.N47S|uc021vhh.1,p.N47S	retained_intron, protein_coding, processed_transcript	uc021vhk.1	nonsynonymous SNV	exon2	c.A140G	p.N47S	GAEGQWTRFPKWNACCESEMSFQLK	GAEGQWTRFPKWSACCESEMSFQLK	1.0	4.0	unscreened	-	3879_2:51255272-51255272 T>C_GAEGQWTRFPKWSACCESEMSFQLK
8:124382159-124382161 TCA>-	0.0	3879	MELANOMA	-	-	ID=COSM1745351;OCCURENCE=1(urinary_tract)	-	ATAD2	NM_014109,p.277_278del|ENST00000287394,p.277_278del|uc011lii.2,p.68_69del|uc003yqj.3,p.277_278del|uc003yqh.4,p.277_278del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lii.2	nonframeshift deletion	exon7	c.204_206del	p.68_69del	DDDDDDDDDDDDDEDDEDEEDGEEE	DDDDDDDDDDDDEDDEDEEDGEEEN	6.0	1.0	unscreened	-	3879_8:124382159-124382161 TCA>-_DDDDDDDDDDDDEDDEDEEDGEEEN
19:8668671-8668671 A>C	0.0	3879	MELANOMA	-	-	-	-	ADAMTS10	ENST00000270328,p.V178G|uc002mkj.1,p.V178G|ENST00000597188,p.V178G|ENST00000596851,p.V178G|NM_030957,p.V178G|ENST00000593913,p.V178G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkj.1	nonsynonymous SNV	exon5	c.T533G	p.V178G	KGSRSPEESGPHVVYKRSSLRHPHL	KGSRSPEESGPHGVYKRSSLRHPHL	2.0	3.0	unscreened	-	3879_19:8668671-8668671 A>C_KGSRSPEESGPHGVYKRSSLRHPHL
8:11407696-11407696 G>A	0.0	3879	MELANOMA	-	-	ID=COSM1699724;OCCURENCE=1(skin)	-	BLK	ENST00000259089,p.E133K|ENST00000529894,p.E62K|uc003wty.3,p.E133K|NM_001715,p.E133K	retained_intron, protein_coding, processed_transcript	uc003wty.3	nonsynonymous SNV	exon6	c.G397A	p.E133K	MERWFFRSQGRKEAERQLLAPINKA	MERWFFRSQGRKKAERQLLAPINKA	1.0	2.0	unscreened	-	3879_8:11407696-11407696 G>A_MERWFFRSQGRKKAERQLLAPINKA
11:76371006-76371006 C>T	0.0	3879	MELANOMA	-	-	-	-	LRRC32	uc010rsf.2,p.R530Q|ENST00000404995,p.R544Q|uc001oxq.4,p.R544Q|NM_001128922,p.R544Q|NM_005512,p.R544Q|ENST00000260061,p.R544Q|ENST00000407242,p.R544Q|uc001oxr.4,p.R544Q	protein_coding, processed_transcript	uc010rsf.2	nonsynonymous SNV	exon4	c.G1589A	p.R530Q	WTQAVSLEVLDLRNNSFSLLPGSAM	WTQAVSLEVLDLQNNSFSLLPGSAM	4.0	4.0	unscreened	-	3879_11:76371006-76371006 C>T_WTQAVSLEVLDLQNNSFSLLPGSAM
1:119427393-119427393 G>A	0.0	3879	MELANOMA	-	-	-	-	TBX15	uc009whj.1,p.P309S|ENST00000449873,p.P319S|ENST00000207157,p.P485S|NM_152380,p.P485S|uc001ehl.1,p.P485S|ENST00000369429,p.P591S	protein_coding	uc009whj.1	nonsynonymous SNV	exon3	c.C925T	p.P309S	TNTCDGRQYGAVPGSSSQMSVHMV	TNTCDGRQYGAVSGSSSQMSVHMV	4.0	3.0	unscreened	-	3879_1:119427393-119427393 G>A_TNTCDGRQYGAVSGSSSQMSVHMV
2:80529753-80529753 C>T	0.0	3879	MELANOMA	-	-	-	-	LRRTM1	uc021vjt.1,p.G398R|ENST00000417012,p.G398R|ENST00000433224,p.G398R|uc002sok.1,p.G398R|ENST00000295057,p.G398R|ENST00000409148,p.G398R|NM_178839,p.G398R	protein_coding, nonsense_mediated_decay	uc021vjt.1	nonsynonymous SNV	exon1	c.G1192A	p.G398R	PPASSATTLADGGEGQHDGTFEPAT	PPASSATTLADGREGQHDGTFEPAT	1.0	8.0	unscreened	-	3879_2:80529753-80529753 C>T_PPASSATTLADGREGQHDGTFEPAT
17:60754804-60754804 C>T	0.0	3879	MELANOMA	-	-	-	-	MRC2	ENST00000303375,p.P670L|NM_006039,p.P670L|uc002jad.4,p.P670L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jad.4	nonsynonymous SNV	exon12	c.C2009T	p.P670L	GPDPTPSLTGSCPQGWASDTKLRYC	GPDPTPSLTGSCLQGWASDTKLRYC	4.0	3.0	unscreened	-	3879_17:60754804-60754804 C>T_GPDPTPSLTGSCLQGWASDTKLRYC
19:59028217-59028217 C>A	1.0	3879	MELANOMA	-	-	-	-	ZBTB45	ENST00000354590,p.G275V|ENST00000594051,p.G275V|NM_032792,p.G275V|uc002qtd.3,p.G275V|ENST00000600990,p.G275V|uc002qtf.3,p.G275V	protein_coding	uc002qtf.3	nonsynonymous SNV	exon2	c.G824T	p.G275V	ADYSGAGRDFLRGAGSAEDVFPDSY	ADYSGAGRDFLRVAGSAEDVFPDSY	4.0	8.0	-	-	3879_19:59028217-59028217 C>A_ADYSGAGRDFLRVAGSAEDVFPDSY
20:3209748-3209748 C>T	0.0	3879	MELANOMA	-	-	-	-	SLC4A11	ENST00000380059,p.E714K|NM_001174089,p.E671K|NM_001174090,p.E714K|uc010zqe.2,p.E714K|ENST00000539553,p.E671K|uc002wig.3,p.E687K|NM_032034,p.E687K|ENST00000380056,p.E687K|uc010zqf.2,p.E671K	protein_coding, processed_transcript	uc010zqf.2	nonsynonymous SNV	exon16	c.G2011A	p.E671K	EQNLVAALVNAPENRLVKGTAYHWD	EQNLVAALVNAPKNRLVKGTAYHWD	2.0	2.0	unscreened	-	3879_20:3209748-3209748 C>T_EQNLVAALVNAPKNRLVKGTAYHWD
11:66454983-66454983 G>A	0.0	3879	MELANOMA	-	-	-	-	SPTBN2	ENST00000309996,p.P2213S|uc001ojd.3,p.P2213S|ENST00000529997,p.P2213S|ENST00000533211,p.P2213S|NM_006946,p.P2213S	retained_intron, protein_coding	uc001ojd.3	nonsynonymous SNV	exon34	c.C6637T	p.P2213S	ESAHAATLPPRGPEPSAQEQMEGML	ESAHAATLPPRGSEPSAQEQMEGML	5.0	8.0	unscreened	-	3879_11:66454983-66454983 G>A_ESAHAATLPPRGSEPSAQEQMEGML
2:29295230-29295230 C>T	0.0	3879	MELANOMA	-	-	-	-	C2orf71	ENST00000331664,p.G633E|uc002rmt.2,p.G633E|NM_001029883,p.G633E	protein_coding	uc002rmt.2	nonsynonymous SNV	exon1	c.G1898A	p.G633E	QKLEAFYALGAKGQGQSQEQILQPR	QKLEAFYALGAKEQGQSQEQILQPR	1.0	9.0	unscreened	-	3879_2:29295230-29295230 C>T_QKLEAFYALGAKEQGQSQEQILQPR
12:52710371-52710371 C>T	0.0	3879	MELANOMA	-	-	-	-	KRT83	ENST00000293670,p.E308K|NM_002282,p.E308K|uc001saf.2,p.E308K	protein_coding	uc001saf.2	nonsynonymous SNV	exon6	c.G922A	p.E308K	AEAESWYRSKCEEMKATVIRHGETL	AEAESWYRSKCEKMKATVIRHGETL	1.0	8.0	unscreened	-	3879_12:52710371-52710371 C>T_AEAESWYRSKCEKMKATVIRHGETL
13:30014141-30014141 G>A	0.0	3879	MELANOMA	-	-	-	-	MTUS2	NM_001033602,p.E1057K|uc001usl.4,p.E1057K|ENST00000431530,p.E1057K	retained_intron, protein_coding, processed_transcript	uc001usl.4	nonsynonymous SNV	exon7	c.G3169A	p.E1057K	HFFRKNESALVKEKELSIELANIRD	HFFRKNESALVKKKELSIELANIRD	1.0	8.0	unscreened	-	3879_13:30014141-30014141 G>A_HFFRKNESALVKKKELSIELANIRD
13:30014141-30014141 G>A	0.0	3879	MELANOMA	-	-	-	-	MTUS2	uc001usm.4,p.E26K|ENST00000380808,p.E26K|NM_015233,p.E26K	retained_intron, protein_coding, processed_transcript	uc001usm.4	nonsynonymous SNV	exon2	c.G76A	p.E26K	CLDKTNESALVKEKELSIELANIRD	CLDKTNESALVKKKELSIELANIRD	1.0	8.0	unscreened	-	3879_13:30014141-30014141 G>A_CLDKTNESALVKKKELSIELANIRD
10:104596979-104596979 C>T	0.0	3879	MELANOMA	-	-	-	-	CYP17A1	NM_000102,p.G47D|ENST00000369887,p.G47D|uc001kwg.3,p.G47D	protein_coding, processed_transcript	uc001kwg.3	nonsynonymous SNV	exon1	c.G140A	p.G47D	PLVGSLPFLPRHGHMHNNFFKLQKK	PLVGSLPFLPRHDHMHNNFFKLQKK	1.0	2.0	unscreened	-	3879_10:104596979-104596979 C>T_PLVGSLPFLPRHDHMHNNFFKLQKK
5:180420076-180420076 A>C	0.0	3879	MELANOMA	-	-	-	-	BTNL3	NM_197975,p.T105P|uc003mmr.3,p.T105P|ENST00000342868,p.T105P	protein_coding	uc003mmr.3	nonsynonymous SNV	exon2	c.A313C	p.T105P	AGGRVSLRLKNITPSDIGLYGCWFS	AGGRVSLRLKNIPPSDIGLYGCWFS	1.0	7.0	unscreened	-	3879_5:180420076-180420076 A>C_AGGRVSLRLKNIPPSDIGLYGCWFS
16:90097710-90097710 G>A	1.0	3879	MELANOMA	-	-	-	-	GAS8	ENST00000565062,p.G68E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000565062	nonsynonymous SNV	exon3	c.G203A	p.G68E	SVPHLTHCTWPGGGACQPHPGGAGP	SVPHLTHCTWPGEGACQPHPGGAGP	9.0	5.0	-	-	3879_16:90097710-90097710 G>A_SVPHLTHCTWPGEGACQPHPGGAGP
12:50475331-50475331 C>T	0.0	3879	MELANOMA	-	-	-	-	ASIC1	uc009zln.4,p.P287S|NM_001256830,p.P530S|ENST00000228468,p.P542S|uc001rvw.4,p.P496S|uc021qxr.2,p.P530S|uc001rvv.4,p.P542S|NM_001095,p.P496S|NM_020039,p.P542S|ENST00000552438,p.P530S|uc009zlo.4,p.P496S|uc031qhf.1,p.P399S|ENST00000447966,p.P496S	retained_intron, protein_coding, nonsense_mediated_decay	uc031qhf.1	nonsynonymous SNV	exon11	c.C1195T	p.P399S	VALSLDDVKRHNPCESLRGHPAGMT	VALSLDDVKRHNSCESLRGHPAGMT	1.0	3.0	unscreened	-	3879_12:50475331-50475331 C>T_VALSLDDVKRHNSCESLRGHPAGMT
9:33566283-33566283 G>A	0.0	3879	MELANOMA	-	-	-	-	ANKRD18B	uc010mjw.2,p.E780K|ENST00000357927,p.E162K|NM_001244752,p.E780K|ENST00000290943,p.E781K	retained_intron, protein_coding, processed_transcript	uc010mjw.2	nonsynonymous SNV	exon13	c.G2338A	p.E780K	VSSKCVNLAKDNEVLHQELLSMGKV	VSSKCVNLAKDNKVLHQELLSMGKV	1.0	8.0	unscreened	-	3879_9:33566283-33566283 G>A_VSSKCVNLAKDNKVLHQELLSMGKV
15:54305233-54305233 C>A	0.0	3879	MELANOMA	-	-	-	-	UNC13C	ENST00000545554,p.P45T|uc021smr.1,p.P45T|ENST00000537900,p.P45T|uc021sms.1,p.P45T|ENST00000260323,p.P45T|NM_001080534,p.P45T	retained_intron, protein_coding	uc021sms.1	nonsynonymous SNV	exon1	c.C133A	p.P45T	KEYRQQKKDQDFPTAGQTKSPKFSY	KEYRQQKKDQDFTTAGQTKSPKFSY	1.0	9.0	unscreened	-	3879_15:54305233-54305233 C>A_KEYRQQKKDQDFTTAGQTKSPKFSY
1:26691685-26691685 T>G	0.0	3879	MELANOMA	-	-	-	-	ZNF683	ENST00000454975,p.T68P|ENST00000436292,p.T118P|NM_001114759,p.T118P|ENST00000349618,p.T118P|ENST00000455900,p.T126P|uc001bmh.1,p.T118P|uc009vsj.1,p.T118P|ENST00000374204,p.T118P|ENST00000403843,p.T118P|ENST00000451801,p.T118P|ENST00000416125,p.T118P|NM_173574,p.T118P|ENST00000423508,p.T126P|uc001bmg.1,p.T118P	protein_coding	uc009vsj.1	nonsynonymous SNV	exon4	c.A352C	p.T118P	MKHEPPGLQASSTDDKKFTVKYPQN	MKHEPPGLQASSPDDKKFTVKYPQN	1.0	9.0	unscreened	-	3879_1:26691685-26691685 T>G_MKHEPPGLQASSPDDKKFTVKYPQN
1:157509080-157509080 G>A	0.0	3879	MELANOMA	-	-	-	-	FCRL5	uc009wsm.3,p.H400Y|ENST00000356953,p.H400Y|uc010phx.2,p.H151Y|NM_001195388,p.H400Y|uc010phw.1,p.H315Y|ENST00000368191,p.H315Y|ENST00000368189,p.H400Y|uc001fqu.3,p.H400Y|uc010phv.1,p.H400Y|ENST00000368190,p.H400Y|uc001fqv.1,p.H400Y|ENST00000361835,p.H400Y|NM_031281,p.H400Y	protein_coding, processed_transcript	uc010phx.2	nonsynonymous SNV	exon8	c.C451T	p.H151Y	EDLIFEGAKVTLHCEAQRGSLPILY	EDLIFEGAKVTLYCEAQRGSLPILY	1.0	8.0	unscreened	-	3879_1:157509080-157509080 G>A_EDLIFEGAKVTLYCEAQRGSLPILY
20:45131203-45131203 G>A	0.0	3879	MELANOMA	-	-	-	-	ZNF334	NM_018102,p.H259Y|uc002xsb.4,p.H221Y|ENST00000593880,p.H282Y|uc031rtw.1,p.H221Y|uc002xsa.4,p.H282Y|NM_001270497,p.H258Y|ENST00000457685,p.H221Y|uc010ghl.4,p.H258Y|ENST00000347606,p.H259Y|uc002xsc.4,p.H259Y|uc002xsd.4,p.H221Y	protein_coding	uc031rtw.1	nonsynonymous SNV	exon5	c.C661T	p.H221Y	SKRSTLIVHQRIHTGEKPYVCSDCR	SKRSTLIVHQRIYTGEKPYVCSDCR	2.0	6.0	unscreened	-	3879_20:45131203-45131203 G>A_SKRSTLIVHQRIYTGEKPYVCSDCR
10:15639297-15639297 C>T	0.0	3879	MELANOMA	-	-	-	-	ITGA8	uc001ioc.1,p.G707E|uc010qcb.1,p.G692E|NM_003638,p.G707E|NM_001291494,p.G692E|ENST00000378076,p.G707E	protein_coding, processed_transcript	uc010qcb.1	nonsynonymous SNV	exon20	c.G2075A	p.G692E	EADYVGIERNNKGFRPLSCEYKMEN	EADYVGIERNNKEFRPLSCEYKMEN	3.0	5.0	unscreened	-	3879_10:15639297-15639297 C>T_EADYVGIERNNKEFRPLSCEYKMEN
4:77817396-77817396 C>T	0.0	3879	MELANOMA	-	-	-	-	SOWAHB	NM_001029870,p.G536E|ENST00000334306,p.G536E|uc003hki.3,p.G536E	protein_coding	uc003hki.3	nonsynonymous SNV	exon1	c.G1607A	p.G536E	RRPPRSRKPSKAGTAPSPRVDAGLS	RRPPRSRKPSKAETAPSPRVDAGLS	1.0	5.0	unscreened	-	3879_4:77817396-77817396 C>T_RRPPRSRKPSKAETAPSPRVDAGLS
2:50765675-50765675 T>G	0.0	3879	MELANOMA	-	-	-	-	NRXN1	ENST00000406859,p.E620A|NM_001135659,p.E660A|uc021vhh.1,p.E620A|ENST00000404971,p.E660A|NM_004801,p.E620A|ENST00000405472,p.E612A|uc002rxb.4,p.E292A|ENST00000401669,p.E620A|uc021vhg.1,p.E660A|ENST00000402717,p.E612A|ENST00000406316,p.E620A	retained_intron, protein_coding, processed_transcript	uc021vhh.1	nonsynonymous SNV	exon9	c.A1859C	p.E620A	DLDDELYLGGLPENKAGLVFPTEVW	DLDDELYLGGLPANKAGLVFPTEVW	1.0	7.0	unscreened	-	3879_2:50765675-50765675 T>G_DLDDELYLGGLPANKAGLVFPTEVW
7:27238037-27238037 G>A	0.0	3879	MELANOMA	-	-	-	1	HOXA13	NM_000522,p.A316V|ENST00000222753,p.A316V|uc003szb.1,p.A316V	protein_coding, processed_transcript	uc003szb.1	nonsynonymous SNV	exon2	c.C947T	p.A316V	STLPDVVSHPSDASSYRRGRKKRVP	STLPDVVSHPSDVSSYRRGRKKRVP	1.0	7.0	unscreened	-	3879_7:27238037-27238037 G>A_STLPDVVSHPSDVSSYRRGRKKRVP
1:160789155-160789155 G>A	0.0	3879	MELANOMA	-	-	-	-	LY9	uc001fwz.3,p.D149N|ENST00000368040,p.D149N|NM_001261456,p.D497N|ENST00000368035,p.D149N|uc001fwv.4,p.D497N|ENST00000368037,p.D466N|ENST00000341032,p.D407N|uc001fwy.1,p.D309N	retained_intron, protein_coding, processed_transcript	uc001fwz.3	nonsynonymous SNV	exon4	c.G445A	p.D149N	PAFCSSQAEAPADTPGYEKLDTPLR	PAFCSSQAEAPANTPGYEKLDTPLR	1.0	7.0	unscreened	-	3879_1:160789155-160789155 G>A_PAFCSSQAEAPANTPGYEKLDTPLR
10:96748610-96748610 G>A	0.0	3879	MELANOMA	-	-	ID=COSM1202856;OCCURENCE=1(large_intestine)	-	CYP2C9	ENST00000260682,p.R433Q|uc001kka.4,p.R433Q|uc009xut.3,p.R431Q|NM_000771,p.R433Q	protein_coding, processed_transcript	uc009xut.3	nonsynonymous SNV	exon9	c.G1292A	p.R431Q	KSKYFMPFSAGKRICVGEALAGMEL	KSKYFMPFSAGKQICVGEALAGMEL	1.0	4.0	unscreened	-	3879_10:96748610-96748610 G>A_KSKYFMPFSAGKQICVGEALAGMEL
19:58485707-58485707 G>A	0.0	3879	MELANOMA	-	-	-	-	C19orf18	ENST00000314391,p.P32S|NM_152474,p.P32S|uc002qqv.3,p.P32S	protein_coding	uc002qqv.3	nonsynonymous SNV	exon1	c.C94T	p.P32S	LHLCLPYADGLHPTGNITGLPGSKR	LHLCLPYADGLHSTGNITGLPGSKR	1.0	7.0	unscreened	-	3879_19:58485707-58485707 G>A_LHLCLPYADGLHSTGNITGLPGSKR
6:66044859-66044859 T>G	0.0	3879	MELANOMA	-	-	-	-	EYS	uc003per.1,p.I594L|NM_198283,p.I594L|uc021zbn.1,p.I594L|ENST00000370618,p.I594L|ENST00000342421,p.I594L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zbn.1	nonsynonymous SNV	exon11	c.A1780C	p.I594L	KDEINRPRYLCII	KDEINRPRYLCIL	1.0	4.0	unscreened	-	3879_6:66044859-66044859 T>G_KDEINRPRYLCIL
19:16875935-16875935 C>T	0.0	3879	MELANOMA	-	-	-	-	NWD1	ENST00000523826,p.S575F|NM_001007525,p.S781F|ENST00000549814,p.S781F|NM_001290355,p.S646F|uc002neu.4,p.S781F|ENST00000524140,p.S781F|ENST00000379808,p.S781F|ENST00000339803,p.S646F|uc002nev.4,p.S575F|ENST00000552788,p.S781F|uc002net.4,p.S646F	protein_coding, nonsense_mediated_decay	uc002nev.4	nonsynonymous SNV	exon9	c.C1724T	p.S575F	LDDFDLCAPHLDSPEVGLVREALQL	LDDFDLCAPHLDFPEVGLVREALQL	1.0	7.0	unscreened	-	3879_19:16875935-16875935 C>T_LDDFDLCAPHLDFPEVGLVREALQL
2:38903122-38903122 A>G	0.0	3879	MELANOMA	-	-	-	-	GALM	uc002rqy.3,p.T87A|ENST00000427858,p.T87A|NM_138801,p.T87A|ENST00000272252,p.T87A|ENST00000444351,p.T60A	protein_coding, nonsense_mediated_decay	uc002rqy.3	nonsynonymous SNV	exon2	c.A259G	p.T87A	VIGRVANRIAKGTFKVDGKEYHLAI	VIGRVANRIAKGAFKVDGKEYHLAI	2.0	7.0	unscreened	-	3879_2:38903122-38903122 A>G_VIGRVANRIAKGAFKVDGKEYHLAI
2:220167333-220167333 C>T	0.0	3879	MELANOMA	-	-	ID=COSM142783;OCCURENCE=1(skin)	-	PTPRN	NM_002846,p.E202K|ENST00000295718,p.E202K|uc002vkz.3,p.E202K|ENST00000423636,p.E112K|ENST00000446182,p.E112K|ENST00000409251,p.E202K|NM_001199764,p.E112K|uc002vla.3,p.E202K|uc010zlc.2,p.E112K|NM_001199763,p.E202K|ENST00000412847,p.E112K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zlc.2	nonsynonymous SNV	exon5	c.G334A	p.E112K	LPPQPPHPSLSYEPALLQPYLFHQF	LPPQPPHPSLSYKPALLQPYLFHQF	1.0	7.0	unscreened	-	3879_2:220167333-220167333 C>T_LPPQPPHPSLSYKPALLQPYLFHQF
20:44180730-44180730 C>T	0.0	3879	MELANOMA	-	-	-	-	WFDC8	NM_130896,p.E221K|NM_181510,p.E221K|ENST00000289953,p.E221K|uc002xox.3,p.E221K|ENST00000357199,p.E221K|uc002xow.3,p.E221K	protein_coding	uc002xox.3	nonsynonymous SNV	exon6	c.G661A	p.E221K	TKIDKPKCLQDEECPLVEKCCSHCG	TKIDKPKCLQDEKCPLVEKCCSHCG	1.0	4.0	unscreened	-	3879_20:44180730-44180730 C>T_TKIDKPKCLQDEKCPLVEKCCSHCG
12:48372486-48372486 C>T	0.0	3879	MELANOMA	-	-	-	1	COL2A1	uc001rqv.3,p.G861D|NM_033150,p.G861D|NM_001844,p.G930D|ENST00000380518,p.G930D|uc001rqu.3,p.G930D|ENST00000337299,p.G861D	retained_intron, protein_coding, processed_transcript	uc001rqv.3	nonsynonymous SNV	exon41	c.G2582A	p.G861D	GPPGPSGKDGPKGARGDSGPPGRAG	GPPGPSGKDGPKDARGDSGPPGRAG	4.0	2.0	unscreened	-	3879_12:48372486-48372486 C>T_GPPGPSGKDGPKDARGDSGPPGRAG
22:42128254-42128254 G>A	0.0	3879	MELANOMA	-	-	-	-	MEI1	uc003baz.1,p.E368K|ENST00000401548,p.E368K|NM_152513,p.E368K|uc003bay.3,p.E368K|ENST00000540833,p.E108K	retained_intron, protein_coding, processed_transcript	uc003baz.1	nonsynonymous SNV	exon10	c.G1102A	p.E368K	LFFSKCHTVYGIEAVVRSLQGSLKM	LFFSKCHTVYGIKAVVRSLQGSLKM	1.0	7.0	unscreened	-	3879_22:42128254-42128254 G>A_LFFSKCHTVYGIKAVVRSLQGSLKM
7:122337852-122337852 G>A	0.0	3879	MELANOMA	-	-	-	-	RNF133	uc003vkj.1,p.P374L|ENST00000340112,p.P374L|NM_139175,p.P374L	protein_coding	uc003vkj.1	nonsynonymous SNV	exon1	c.C1121T	p.P374L	DIQPHSVVEDVHPSP	DIQPHSVVEDVHLSP	1.0	3.0	unscreened	-	3879_7:122337852-122337852 G>A_DIQPHSVVEDVHLSP
13:28979927-28979927 C>T	0.0	3879	MELANOMA	-	-	-	-	FLT1	ENST00000539099,p.G514E|uc010tdp.1,p.G514E|NM_001160031,p.G514E	protein_coding	uc010tdp.1	nonsynonymous SNV	exon11	c.G1541A	p.G514E	IESITQRMAIIEGKNKLPPANSSFM	IESITQRMAIIEEKNKLPPANSSFM	7.0	6.0	unscreened	-	3879_13:28979927-28979927 C>T_IESITQRMAIIEEKNKLPPANSSFM
2:190922206-190922206 T>A	0.0	3879	MELANOMA	-	-	-	-	MSTN	uc002urp.3,p.K302N|NM_005259,p.K302N|ENST00000260950,p.K302N	protein_coding	uc002urp.3	nonsynonymous SNV	exon3	c.A906T	p.K302N	FEAFGWDWIIAPKRYKANYCSGECE	FEAFGWDWIIAPNRYKANYCSGECE	2.0	3.0	unscreened	-	3879_2:190922206-190922206 T>A_FEAFGWDWIIAPNRYKANYCSGECE
6:153075392-153075392 G>A	0.0	3879	MELANOMA	-	-	-	-	VIP	ENST00000367244,p.E67K|uc003qpe.4,p.E67K|NM_003381,p.E67K|uc003qpf.4,p.E67K|ENST00000367243,p.E67K|uc010kjd.4,p.E67K|NM_194435,p.E67K	protein_coding	uc010kjd.4	nonsynonymous SNV	exon3	c.G199A	p.E67K	KEDIDMLQNALAENDTPYYDVSRNA	KEDIDMLQNALAKNDTPYYDVSRNA	1.0	7.0	unscreened	-	3879_6:153075392-153075392 G>A_KEDIDMLQNALAKNDTPYYDVSRNA
5:121761077-121761077 A>G	0.0	3879	MELANOMA	-	-	-	-	SNCAIP	uc010jcw.1,p.I39V	retained_intron, protein_coding, nonsense_mediated_decay	uc010jcw.1	nonsynonymous SNV	exon3	c.A115G	p.I39V	DQPHLAADNLDKIHDENGNNLLHIA	DQPHLAADNLDKVHDENGNNLLHIA	1.0	4.0	unscreened	-	3879_5:121761077-121761077 A>G_DQPHLAADNLDKVHDENGNNLLHIA
5:121761077-121761077 A>G	0.0	3879	MELANOMA	-	-	-	-	SNCAIP	ENST00000379533,p.I392V|ENST00000261367,p.I392V|NM_005460,p.I345V|uc010jct.3,p.I345V|uc003ksw.1,p.I345V|ENST00000395469,p.I392V|ENST00000261368,p.I345V|ENST00000503116,p.I392V|uc003ksx.1,p.I392V	retained_intron, protein_coding, nonsense_mediated_decay	uc010jct.3	nonsynonymous SNV	exon5	c.A1033G	p.I345V	LLPHLAADNLDKIHDENGNNLLHIA	LLPHLAADNLDKVHDENGNNLLHIA	1.0	4.0	unscreened	-	3879_5:121761077-121761077 A>G_LLPHLAADNLDKVHDENGNNLLHIA
8:30705760-30705760 T>A	0.0	3879	MELANOMA	-	-	-	-	TEX15	NM_031271,p.K258N|ENST00000256246,p.K258N|uc003xil.3,p.K258N	protein_coding, processed_transcript	uc003xil.3	nonsynonymous SNV	exon1	c.A774T	p.K258N	DSSKHEEKQTSWKEIDNDFTNETKI	DSSKHEEKQTSWNEIDNDFTNETKI	1.0	3.0	unscreened	-	3879_8:30705760-30705760 T>A_DSSKHEEKQTSWNEIDNDFTNETKI
8:2063848-2063848 C>T	0.0	3879	MELANOMA	-	-	-	-	MYOM2	NM_003970,p.H1093Y|uc011kwi.2,p.H518Y|uc003wpx.4,p.H1093Y|ENST00000262113,p.H1093Y|ENST00000523438,p.H518Y	retained_intron, protein_coding, processed_transcript	uc011kwi.2	nonsynonymous SNV	exon13	c.C1552T	p.H518Y	SIENEGTYTVQIHDGKAKSQSSLVL	SIENEGTYTVQIYDGKAKSQSSLVL	1.0	5.0	unscreened	-	3879_8:2063848-2063848 C>T_SIENEGTYTVQIYDGKAKSQSSLVL
9:105767661-105767661 G>A	0.0	3879	MELANOMA	-	-	ID=COSM3779491;OCCURENCE=1(urinary_tract)	-	CYLC2	ENST00000487798,p.D250N|uc004bbs.2,p.D250N|NM_001340,p.D250N|ENST00000374798,p.D250N	protein_coding, processed_transcript	uc004bbs.2	nonsynonymous SNV	exon5	c.G748A	p.D250N	KADEKKDEDGKKDANKGDESKDAKK	KADEKKDEDGKKNANKGDESKDAKK	1.0	9.0	unscreened	-	3879_9:105767661-105767661 G>A_KADEKKDEDGKKNANKGDESKDAKK
7:100193268-100193268 G>A	0.0	3879	MELANOMA	-	-	-	-	FBXO24	NM_012172,p.G420E|ENST00000468962,p.G370E|uc011kjz.1,p.G420E|uc011kka.1,p.G370E|uc003uvm.1,p.G382E|ENST00000427939,p.G420E|ENST00000241071,p.G382E|NM_001163499,p.G370E|uc003uvn.1,p.G77E|NM_033506,p.G382E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kka.1	nonsynonymous SNV	exon8	c.G1109A	p.G370E	GLVDEFGRIFMQGNNRYGQLGTGDK	GLVDEFGRIFMQENNRYGQLGTGDK	1.0	6.0	unscreened	-	3879_7:100193268-100193268 G>A_GLVDEFGRIFMQENNRYGQLGTGDK
11:66082494-66082494 T>C	0.0	3879	MELANOMA	-	-	-	-	CD248	ENST00000311330,p.T669A|uc001ohm.1,p.T669A|NM_020404,p.T669A	protein_coding	uc001ohm.1	nonsynonymous SNV	exon1	c.A2005G	p.T669A	LWLPSPAPTAAPTALGEAGLAEHSQ	LWLPSPAPTAAPAALGEAGLAEHSQ	4.0	6.0	unscreened	-	3879_11:66082494-66082494 T>C_LWLPSPAPTAAPAALGEAGLAEHSQ
2:179640652-179640652 T>A	0.0	3879	MELANOMA	-	-	-	-	TTN	NM_003319,p.K1934I|ENST00000342992,p.K1980I|NM_133432,p.K1934I|ENST00000591111,p.K1980I|NM_001256850,p.K1980I|NM_133437,p.K1934I|ENST00000359218,p.K1934I|uc021vta.2,p.K1934I|NM_133379,p.K1980I|ENST00000460472,p.K1934I|uc031rqc.1,p.K1980I|uc002unb.3,p.K1980I|ENST00000589042,p.K1980I|uc031rqd.1,p.K1980I|uc021vsz.2,p.K1934I|uc021vtb.2,p.K1934I|NM_133378,p.K1980I|ENST00000342175,p.K1934I|NM_001267550,p.K1980I|ENST00000360870,p.K1980I|uc021vsy.2,p.K1980I	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon28	c.A5939T	p.K1980I	VDTTETKEVVKLKRAERITHEKVPE	VDTTETKEVVKLIRAERITHEKVPE	1.0	3.0	unscreened	-	3879_2:179640652-179640652 T>A_VDTTETKEVVKLIRAERITHEKVPE
2:72406588-72406588 A>C	1.0	3879	MELANOMA	-	-	-	-	EXOC6B	ENST00000272427,p.M771R|uc010fep.3,p.M771R|NM_015189,p.M771R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010fep.3	nonsynonymous SNV	exon22	c.T2312G	p.M771R	VNPVTALTLLEKMKDTSRKNNMFAQ	VNPVTALTLLEKRKDTSRKNNMFAQ	8.0	4.0	-	-	3879_2:72406588-72406588 A>C_VNPVTALTLLEKRKDTSRKNNMFAQ
6:137323153-137323153 C>T	0.0	3879	MELANOMA	-	-	-	-	IL20RA	NM_001278723,p.E291K|NM_001278724,p.E269K|uc003qhk.3,p.E291K|NM_001278722,p.E353K|ENST00000316649,p.E402K|uc003qhj.3,p.E402K|uc003qhi.3,p.E134K|ENST00000367748,p.E291K|uc011edl.2,p.E353K|ENST00000541547,p.E353K|NM_014432,p.E402K	protein_coding, processed_transcript	uc011edl.2	nonsynonymous SNV	exon7	c.G1057A	p.E353K	RTIPPDKTVIEYEYDVRTTDICAGP	RTIPPDKTVIEYKYDVRTTDICAGP	1.0	6.0	unscreened	-	3879_6:137323153-137323153 C>T_RTIPPDKTVIEYKYDVRTTDICAGP
1:57489275-57489275 G>A	0.0	3879	MELANOMA	-	-	-	-	DAB1	uc001cyt.1,p.S273L|ENST00000371236,p.S275L|ENST00000371231,p.S308L|uc001cys.1,p.S275L|uc009vzw.1,p.S257L|uc001cyq.1,p.S273L|NM_021080,p.S275L|uc001cyr.1,p.S189L|ENST00000414851,p.S257L|ENST00000371232,p.S189L|uc009vzx.1,p.S275L|ENST00000439789,p.S189L|ENST00000420954,p.S273L|ENST00000371234,p.S275L	protein_coding, processed_transcript	uc009vzx.1	nonsynonymous SNV	exon11	c.C824T	p.S275L	TPATPGDAFIPSSSQTLPASADVFS	TPATPGDAFIPSLSQTLPASADVFS	1.0	5.0	unscreened	-	3879_1:57489275-57489275 G>A_TPATPGDAFIPSLSQTLPASADVFS
1:38082198-38082198 C>T	0.0	3879	MELANOMA	-	-	-	-	RSPO1	ENST00000401071,p.G82R|ENST00000401068,p.G82R|uc009vvg.2,p.G82R|NM_001242910,p.G82R|ENST00000401069,p.G82R|ENST00000373059,p.G55R|uc001cbl.2,p.G82R|NM_001242908,p.G82R|uc001cbm.2,p.G82R|NM_001038633,p.G82R|ENST00000401070,p.G82R|ENST00000356545,p.G82R|NM_001242909,p.G55R|uc009vvf.2,p.G55R	protein_coding	uc009vvg.2	nonsynonymous SNV	exon4	c.G244A	p.G82R	RQVGVCLPSCPPGYFDARNPDMNKC	RQVGVCLPSCPPRYFDARNPDMNKC	1.0	3.0	unscreened	-	3879_1:38082198-38082198 C>T_RQVGVCLPSCPPRYFDARNPDMNKC
12:5939642-5939642 C>T	0.0	3879	MELANOMA	-	-	-	-	ANO2	NM_001278597,p.E264K|ENST00000546188,p.E264K|uc021qtt.1,p.E267K|ENST00000327087,p.E263K|NM_001278596,p.E268K|ENST00000356134,p.E264K|uc001qnm.2,p.E263K	protein_coding, processed_transcript	uc021qtt.1	nonsynonymous SNV	exon6	c.G799A	p.E267K	FSREKMYLYNIQEKDTFFDNATRSR	FSREKMYLYNIQKKDTFFDNATRSR	1.0	2.0	unscreened	-	3879_12:5939642-5939642 C>T_FSREKMYLYNIQKKDTFFDNATRSR
19:44777490-44777490 G>A	1.0	3879	MELANOMA	-	-	-	-	ZNF233	uc002oyz.2,p.G226E|uc002oyy.2,p.G41E|NM_001207005,p.G226E|uc021uvi.1,p.G226E|ENST00000391958,p.G226E|NM_181756,p.G226E	protein_coding	uc021uvi.1	nonsynonymous SNV	exon5	c.G677A	p.G226E	VRQRIAHQHDDHGVHKREKAFSHNN	VRQRIAHQHDDHEVHKREKAFSHNN	4.0	6.0	unscreened	-	3879_19:44777490-44777490 G>A_VRQRIAHQHDDHEVHKREKAFSHNN
19:44777490-44777490 G>A	1.0	3879	MELANOMA	-	-	-	-	ZNF233	ENST00000334152,p.G208E	protein_coding	ENST00000334152	nonsynonymous SNV	exon6	c.G623A	p.G208E	FRQRIAHQHDDHGVHKREKAFSHNN	FRQRIAHQHDDHEVHKREKAFSHNN	4.0	6.0	unscreened	-	3879_19:44777490-44777490 G>A_FRQRIAHQHDDHEVHKREKAFSHNN
17:80789994-80789994 C>T	0.0	3879	MELANOMA	-	-	-	-	ZNF750	ENST00000269394,p.E113K|uc002kga.3,p.E113K|NM_024702,p.E113K	protein_coding	uc002kga.3	nonsynonymous SNV	exon2	c.G337A	p.E113K	KLQHSSAREDIKENLELQARGTHRC	KLQHSSAREDIKKNLELQARGTHRC	1.0	4.0	unscreened	-	3879_17:80789994-80789994 C>T_KLQHSSAREDIKKNLELQARGTHRC
14:81743779-81743779 C>T	0.0	3879	MELANOMA	-	-	-	-	STON2	uc001xvk.2,p.V626I|uc010tvu.3,p.V626I|uc010tvt.3,p.V423I|ENST00000555447,p.V626I|NM_001256430,p.V626I|ENST00000267540,p.V626I|NM_033104,p.V626I	retained_intron, protein_coding, processed_transcript	uc010tvu.3	nonsynonymous SNV	exon5	c.G1876A	p.V626I	GLNDILVKGNEIVLRQDIMPTTTTK	GLNDILVKGNEIILRQDIMPTTTTK	1.0	6.0	unscreened	-	3879_14:81743779-81743779 C>T_GLNDILVKGNEIILRQDIMPTTTTK
19:7830553-7830553 G>A	0.0	3879	MELANOMA	-	-	-	-	CLEC4M	uc002mhy.2,p.E26K	retained_intron, protein_coding	uc002mhy.2	nonsynonymous SNV	exon2	c.G76A	p.E26K	LLVSKVPSSLSQEQSEQDAIYQNLT	LLVSKVPSSLSQKQSEQDAIYQNLT	1.0	2.0	unscreened	-	3879_19:7830553-7830553 G>A_LLVSKVPSSLSQKQSEQDAIYQNLT
19:7830553-7830553 G>A	0.0	3879	MELANOMA	-	-	-	-	CLEC4M	ENST00000394122,p.E70K	retained_intron, protein_coding	ENST00000394122	nonsynonymous SNV	exon6	c.G208A	p.E70K	PRLSKVPSSLSQEQSEQDAIYQNLT	PRLSKVPSSLSQKQSEQDAIYQNLT	1.0	2.0	unscreened	-	3879_19:7830553-7830553 G>A_PRLSKVPSSLSQKQSEQDAIYQNLT
19:7830553-7830553 G>A	0.0	3879	MELANOMA	-	-	-	-	CLEC4M	uc010xjv.1,p.E54K|ENST00000595751,p.E54K	retained_intron, protein_coding	uc010xjv.1	nonsynonymous SNV	exon3	c.G160A	p.E54K	STVSKVPSSLSQEQSEQDAIYQNLT	STVSKVPSSLSQKQSEQDAIYQNLT	1.0	2.0	unscreened	-	3879_19:7830553-7830553 G>A_STVSKVPSSLSQKQSEQDAIYQNLT
19:7830553-7830553 G>A	0.0	3879	MELANOMA	-	-	-	-	CLEC4M	ENST00000596707,p.E61K|NM_001144907,p.E61K|NM_001144906,p.E61K|uc002mia.3,p.E61K|ENST00000595496,p.E61K|ENST00000359059,p.E61K|uc010xjw.2,p.E61K	retained_intron, protein_coding	uc010xjw.2	nonsynonymous SNV	exon3	c.G181A	p.E61K	GPVSKVPSSLSQEQSEQDAIYQNLT	GPVSKVPSSLSQKQSEQDAIYQNLT	1.0	2.0	unscreened	-	3879_19:7830553-7830553 G>A_GPVSKVPSSLSQKQSEQDAIYQNLT
19:7830553-7830553 G>A	0.0	3879	MELANOMA	-	-	-	-	CLEC4M	ENST00000334806,p.E54K|NM_014257,p.E82K|NM_001144904,p.E54K|ENST00000327325,p.E82K|ENST00000357361,p.E82K|uc002mih.3,p.E82K|ENST00000597522,p.E82K|uc010dvs.3,p.E81K|ENST00000596363,p.E54K|uc010xjx.2,p.E54K|NM_001144911,p.E54K|NM_001144910,p.E82K|NM_001144909,p.E82K|uc002mhz.3,p.E82K|uc002mic.3,p.E54K|ENST00000248228,p.E82K|uc010dvt.3,p.E82K|NM_001144908,p.E82K|NM_001144905,p.E81K	retained_intron, protein_coding	uc010xjx.2	nonsynonymous SNV	exon3	c.G160A	p.E54K	VQVSKVPSSLSQEQSEQDAIYQNLT	VQVSKVPSSLSQKQSEQDAIYQNLT	1.0	2.0	unscreened	-	3879_19:7830553-7830553 G>A_VQVSKVPSSLSQKQSEQDAIYQNLT
7:44274052-44274052 C>T	0.0	3879	MELANOMA	-	-	-	-	CAMK2B	ENST00000353185,p.R317Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000353185	nonsynonymous SNV	exon13	c.G950A	p.R317Q	YSTRKQMESSPRRIAPKTVQPPPAP	YSTRKQMESSPRQIAPKTVQPPPAP	1.0	8.0	unscreened	-	3879_7:44274052-44274052 C>T_YSTRKQMESSPRQIAPKTVQPPPAP
16:61687745-61687745 C>T	0.0	3879	MELANOMA	-	-	-	-	CDH8	NM_001796,p.E723K|uc002eog.2,p.E723K|ENST00000577390,p.E723K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002eog.2	nonsynonymous SNV	exon12	c.G2167A	p.E723K	GLAPVPNGVDVDEFINVRLHEADND	GLAPVPNGVDVDKFINVRLHEADND	3.0	3.0	unscreened	-	3879_16:61687745-61687745 C>T_GLAPVPNGVDVDKFINVRLHEADND
12:7637779-7637779 C>T	0.0	3879	MELANOMA	-	-	-	-	CD163	ENST00000359156,p.G898R|ENST00000432237,p.G898R|NM_203416,p.G898R|uc009zfw.2,p.G931R|ENST00000396620,p.G931R|uc001qsz.3,p.G898R|ENST00000541972,p.G886R|NM_004244,p.G898R|uc001qta.3,p.G898R	retained_intron, protein_coding, processed_transcript	uc009zfw.2	nonsynonymous SNV	exon10	c.G2791A	p.G931R	IPMWVDNVQCPKGPDTLWQCPSSPW	IPMWVDNVQCPKRPDTLWQCPSSPW	4.0	6.0	unscreened	-	3879_12:7637779-7637779 C>T_IPMWVDNVQCPKRPDTLWQCPSSPW
1:89519101-89519101 C>T	0.0	3879	MELANOMA	-	-	ID=COSM912953;OCCURENCE=1(endometrium)	-	GBP1	NM_002053,p.M572I|uc001dmx.2,p.M572I|ENST00000370473,p.M572I	protein_coding, processed_transcript	uc001dmx.2	nonsynonymous SNV	exon11	c.G1716A	p.M572I	LLKEGFQKESRIMKNEIQDLQTKMR	LLKEGFQKESRIIKNEIQDLQTKMR	4.0	6.0	unscreened	-	3879_1:89519101-89519101 C>T_LLKEGFQKESRIIKNEIQDLQTKMR
2:26677573-26677573 G>A	0.0	3879	MELANOMA	-	-	-	-	DRC1	ENST00000288710,p.E660K|NM_145038,p.E660K|uc002rhg.2,p.E660K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002rhg.2	nonsynonymous SNV	exon15	c.G1978A	p.E660K	VQKNVRDNSKDSEYWQALTTVIPSS	VQKNVRDNSKDSKYWQALTTVIPSS	1.0	7.0	unscreened	-	3879_2:26677573-26677573 G>A_VQKNVRDNSKDSKYWQALTTVIPSS
2:121740439-121740439 C>T	1.0	3879	MELANOMA	-	-	-	-	GLI2	uc002tmu.4,p.R211C|ENST00000361492,p.R556C|uc002tmt.4,p.R228C|uc002tmq.1,p.R228C|ENST00000452319,p.R556C|ENST00000314490,p.R228C|uc002tmw.1,p.R539C|NM_005270,p.R556C|uc010flp.3,p.R556C|uc002tmr.1,p.R211C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010flp.3	nonsynonymous SNV	exon10	c.C1666T	p.R556C	FSNASDRAKHQNRTHSNEKPYICKI	FSNASDRAKHQNCTHSNEKPYICKI	3.0	2.0	unscreened	-	3879_2:121740439-121740439 C>T_FSNASDRAKHQNCTHSNEKPYICKI
5:135207182-135207182 C>T	0.0	3879	MELANOMA	-	-	-	-	SLC25A48	ENST00000433282,p.P98S|ENST00000420621,p.P152S|uc003laz.1,p.P152S|ENST00000274513,p.P152S	protein_coding, processed_transcript, nonsense_mediated_decay	uc003laz.1	nonsynonymous SNV	exon5	c.C454T	p.P152S	DANLGLKSRAVAPAEQPAYQGPVHC	DANLGLKSRAVASAEQPAYQGPVHC	1.0	6.0	unscreened	-	3879_5:135207182-135207182 C>T_DANLGLKSRAVASAEQPAYQGPVHC
10:64960426-64960426 G>A	1.0	3879	MELANOMA	-	-	-	-	JMJD1C	NM_032776,p.R1696C|NM_001282948,p.R1514C|ENST00000402544,p.R1477C|ENST00000399262,p.R1696C|uc001jml.3,p.R1477C|uc010qiq.2,p.R1514C|uc001jmn.3,p.R1696C|ENST00000542921,p.R1514C|uc001jmm.3,p.R1408C|uc009xpi.3,p.R1514C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qiq.2	nonsynonymous SNV	exon10	c.C4540T	p.R1514C	LKLQSNSNTGIPRSVLKDWRKVKKL	LKLQSNSNTGIPCSVLKDWRKVKKL	9.0	3.0	-	-	3879_10:64960426-64960426 G>A_LKLQSNSNTGIPCSVLKDWRKVKKL
12:15103644-15103644 C>T	0.0	3879	MELANOMA	-	-	-	-	ARHGDIB	ENST00000541546,p.M1I|ENST00000545895,p.M1I|ENST00000541644,p.M1I|ENST00000542276,p.M1I|ENST00000541380,p.M1I|NM_001175,p.M1I|ENST00000228945,p.M1I|uc001rcq.1,p.M1I	retained_intron, protein_coding, processed_transcript	uc001rcq.1	nonsynonymous SNV	exon2	c.G3A	p.M1I	MTEKAPEPHVEED	ITEKAPEPHVEED	8.0	8.0	unscreened	-	3879_12:15103644-15103644 C>T_ITEKAPEPHVEED
5:140167286-140167286 G>A	0.0	3879	MELANOMA	-	-	-	-	PCDHA1	uc003lhb.2,p.G471S|NM_031410,p.G471S|uc003lha.2,p.G471S|uc003lgz.3,p.G471S|ENST00000378133,p.G471S|ENST00000504120,p.G471S|ENST00000394633,p.G471S|NM_018900,p.G471S|NM_031411,p.G471S	protein_coding	uc003lhb.2	nonsynonymous SNV	exon1	c.G1411A	p.G471S	EYTVFVKENNPPGCHIFTVSARDAD	EYTVFVKENNPPSCHIFTVSARDAD	1.0	6.0	unscreened	-	3879_5:140167286-140167286 G>A_EYTVFVKENNPPSCHIFTVSARDAD
2:7018271-7018271 G>A	0.0	3879	MELANOMA	-	-	-	-	RSAD2	ENST00000382040,p.E114K|NM_080657,p.E114K|uc002qyp.1,p.E114K	retained_intron, protein_coding, processed_transcript	uc002qyp.1	nonsynonymous SNV	exon1	c.G340A	p.E114K	LEEAKRGLLLLKEAGMEKINFSGGE	LEEAKRGLLLLKKAGMEKINFSGGE	1.0	3.0	unscreened	-	3879_2:7018271-7018271 G>A_LEEAKRGLLLLKKAGMEKINFSGGE
19:22940130-22940130 C>T	0.0	3879	MELANOMA	-	-	-	-	ZNF99	ENST00000397104,p.R734K	protein_coding	ENST00000397104	nonsynonymous SNV	exon6	c.G2201A	p.R734K	GEKSYKCEECALRKHEIIHTGKKPY	GEKSYKCEECALKKHEIIHTGKKPY	1.0	8.0	unscreened	-	3879_19:22940130-22940130 C>T_GEKSYKCEECALKKHEIIHTGKKPY
12:108985571-108985571 C>T	0.0	3879	MELANOMA	-	-	-	-	TMEM119	uc021rdl.1,p.A197T|NM_181724,p.A197T|uc001tng.3,p.A197T|ENST00000392806,p.A197T	protein_coding	uc021rdl.1	nonsynonymous SNV	exon1	c.G589A	p.A197T	SPTRAALGGGDGARMVEGRGAEEEE	SPTRAALGGGDGTRMVEGRGAEEEE	1.0	7.0	unscreened	-	3879_12:108985571-108985571 C>T_SPTRAALGGGDGTRMVEGRGAEEEE
1:197026553-197026553 G>A	0.0	3879	MELANOMA	-	-	ID=COSM160868;OCCURENCE=1(breast)	-	F13B	ENST00000367412,p.S283F|NM_001994,p.S283F|uc001gtt.1,p.S283F	protein_coding, processed_transcript	uc001gtt.1	nonsynonymous SNV	exon6	c.C848T	p.S283F	RNRCPPPPLPINSKIQTHSTTYRHG	RNRCPPPPLPINFKIQTHSTTYRHG	1.0	3.0	unscreened	-	3879_1:197026553-197026553 G>A_RNRCPPPPLPINFKIQTHSTTYRHG
17:41930306-41930306 C>T	0.0	3879	MELANOMA	-	-	-	-	CD300LG	uc002iem.3,p.P136S|ENST00000317310,p.P136S|NM_001168322,p.P136S|uc010czk.3,p.P136S|NM_145273,p.P136S|ENST00000539718,p.P136S	protein_coding, processed_transcript	uc010czk.3	nonsynonymous SNV	exon3	c.C406T	p.P136S	VFPGPCCPPSPSPTFQPLATTRLQP	VFPGPCCPPSPSSTFQPLATTRLQP	1.0	3.0	unscreened	-	3879_17:41930306-41930306 C>T_VFPGPCCPPSPSSTFQPLATTRLQP
1:115220614-115220614 G>A	0.0	3879	MELANOMA	-	-	-	-	AMPD1	uc001eff.2,p.P410S|NM_000036,p.P414S|uc001efe.2,p.P414S|ENST00000520113,p.P414S|ENST00000353928,p.P381S|ENST00000369538,p.P410S|NM_001172626,p.P410S	protein_coding, nonsense_mediated_decay	uc001eff.2	nonsynonymous SNV	exon8	c.C1228T	p.P410S	FQRFDKFNDKYNPVGASELRDLYLK	FQRFDKFNDKYNSVGASELRDLYLK	1.0	7.0	unscreened	-	3879_1:115220614-115220614 G>A_FQRFDKFNDKYNSVGASELRDLYLK
8:10470052-10470052 C>T	0.0	3879	MELANOMA	-	-	-	-	RP1L1	uc003wtc.3,p.G519D|NM_178857,p.G519D|ENST00000382483,p.G519D	protein_coding, processed_transcript	uc003wtc.3	nonsynonymous SNV	exon4	c.G1556A	p.G519D	IDGAGLGGPEQGGRLTPRARSEEGA	IDGAGLGGPEQGDRLTPRARSEEGA	2.0	2.0	unscreened	-	3879_8:10470052-10470052 C>T_IDGAGLGGPEQGDRLTPRARSEEGA
19:9061633-9061633 A>C	0.0	3879	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.L8605V|NM_024690,p.L8605V|ENST00000397910,p.L8605V	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.T25813G	p.L8605V	LLTLGPVKTTDMLRTSSEPETSSPP	LLTLGPVKTTDMVRTSSEPETSSPP	1.0	4.0	unscreened	-	3879_19:9061633-9061633 A>C_LLTLGPVKTTDMVRTSSEPETSSPP
2:196822037-196822037 C>T	0.0	3879	MELANOMA	-	-	-	-	DNAH7	NM_018897,p.R1009Q|ENST00000312428,p.R1009Q|uc002utj.4,p.R1009Q	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon19	c.G3026A	p.R1009Q	PDIMSQMPEEGRRFTAVDKTWRDIM	PDIMSQMPEEGRQFTAVDKTWRDIM	1.0	8.0	unscreened	-	3879_2:196822037-196822037 C>T_PDIMSQMPEEGRQFTAVDKTWRDIM
14:23873942-23873942 T>A	0.0	3879	MELANOMA	-	-	-	-	MYH6	uc001wjv.3,p.K207M|ENST00000405093,p.K207M|NM_002471,p.K207M|ENST00000356287,p.K207M|uc010akp.2,p.K207M	retained_intron, protein_coding	uc010akp.2	nonsynonymous SNV	exon7	c.A620T	p.K207M	FASIAAIGDRGKKDNANANKGTLED	FASIAAIGDRGKMDNANANKGTLED	1.0	4.0	unscreened	-	3879_14:23873942-23873942 T>A_FASIAAIGDRGKMDNANANKGTLED
7:50468275-50468275 G>A	0.0	3879	MELANOMA	-	-	-	1	IKZF1	NM_006060,p.E504K|NM_001220771,p.E361K|uc011kck.2,p.E417K|NM_001291840,p.E274K|ENST00000343574,p.E417K|NM_001220765,p.E462K|uc022acy.1,p.E311K|NM_001220767,p.E407K|uc022act.1,p.E407K|NM_001291844,p.E309K|uc022acv.1,p.E365K|uc022acr.1,p.E279K|ENST00000346667,p.E274K|uc003tox.4,p.E462K|uc022acq.1,p.E361K|NM_001220768,p.E417K|uc022acu.1,p.E417K|NM_001220770,p.E365K|ENST00000438033,p.E417K|ENST00000331340,p.E504K|NM_001291841,p.E361K|uc003toy.4,p.E462K|uc003toz.4,p.E474K|uc010kyx.3,p.E244K|uc003tow.4,p.E504K|uc022acs.1,p.E234K|NM_001291837,p.E462K|ENST00000439701,p.E462K|NM_001291838,p.E417K|NM_001291839,p.E375K|ENST00000359197,p.E462K|ENST00000349824,p.E361K|NM_001291842,p.E351K|ENST00000357364,p.E417K|uc022acz.1,p.E321K|uc022acw.1,p.E375K|NM_001291843,p.E319K|uc003tpa.4,p.E269K|uc022acx.1,p.E417K	retained_intron, protein_coding, processed_transcript	uc022acz.1	nonsynonymous SNV	exon5	c.G961A	p.E321K	CNMCGYHSQDRYEFSSHITRGEHRF	CNMCGYHSQDRYKFSSHITRGEHRF	1.0	6.0	unscreened	-	3879_7:50468275-50468275 G>A_CNMCGYHSQDRYKFSSHITRGEHRF
19:23158551-23158551 G>A	0.0	3879	MELANOMA	-	-	-	-	ZNF728	ENST00000594710,p.H530Y|uc002nqz.2,p.H530Y|NM_001267716,p.H530Y|uc002nqy.2,p.H347Y	protein_coding	uc002nqz.2	nonsynonymous SNV	exon4	c.C1588T	p.H530Y	SKVANLTKHKVIHTGEKQYKCEECG	SKVANLTKHKVIYTGEKQYKCEECG	1.0	5.0	unscreened	-	3879_19:23158551-23158551 G>A_SKVANLTKHKVIYTGEKQYKCEECG
19:58265789-58265789 C>T	1.0	3879	MELANOMA	-	-	-	-	ZNF776	NM_173632,p.P431S|uc002qqa.3,p.P431S|ENST00000317178,p.P431S|uc002qpx.4,p.P447S	protein_coding, processed_transcript	uc002qqa.3	nonsynonymous SNV	exon3	c.C1291T	p.P431S	LTEHQRVHTGERPYECRECGKCFHQ	LTEHQRVHTGERSYECRECGKCFHQ	7.0	3.0	-	-	3879_19:58265789-58265789 C>T_LTEHQRVHTGERSYECRECGKCFHQ
1:120056588-120056588 G>A	0.0	3879	MELANOMA	-	-	-	-	HSD3B1	ENST00000235547,p.E150K|ENST00000369413,p.E148K|uc001ehv.1,p.E148K|uc031pnt.1,p.E148K|NM_000862,p.E148K|ENST00000528909,p.E148K	retained_intron, protein_coding	uc031pnt.1	nonsynonymous SNV	exon3	c.G442A	p.E148K	EIIQNGHEEEPLENTWPAPYPHSKK	EIIQNGHEEEPLKNTWPAPYPHSKK	1.0	8.0	unscreened	-	3879_1:120056588-120056588 G>A_EIIQNGHEEEPLKNTWPAPYPHSKK
7:88847469-88847469 G>A	0.0	3879	MELANOMA	-	-	-	-	ZNF804B	NM_181646,p.D37N|ENST00000333190,p.D37N|uc011khi.2,p.D37N	protein_coding	uc011khi.2	nonsynonymous SNV	exon2	c.G109A	p.D37N	RGPLCKNGSPSPDFAEKKSTAKALE	RGPLCKNGSPSPNFAEKKSTAKALE	1.0	2.0	unscreened	-	3879_7:88847469-88847469 G>A_RGPLCKNGSPSPNFAEKKSTAKALE
6:127517122-127517122 G>T	0.0	3879	MELANOMA	-	-	-	1	RSPO3	ENST00000368317,p.Q263H|uc003qas.1,p.Q263H	protein_coding, processed_transcript	uc003qas.1	nonsynonymous SNV	exon5	c.G789T	p.Q263H	KQQQKKRKVQDKQKSGIEVTLAEGL	KQQQKKRKVQDKHKSGIEVTLAEGL	1.0	4.0	unscreened	-	3879_6:127517122-127517122 G>T_KQQQKKRKVQDKHKSGIEVTLAEGL
12:52284796-52284796 C>T	0.0	3879	MELANOMA	-	-	-	-	ANKRD33	ENST00000301190,p.P356S|uc001rze.3,p.P252S|uc001rzd.3,p.P356S|NM_182608,p.P356S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rze.3	nonsynonymous SNV	exon6	c.C754T	p.P252S	ELLGTAPPPPLVPQSPPGSPQRSPW	ELLGTAPPPPLVSQSPPGSPQRSPW	1.0	2.0	unscreened	-	3879_12:52284796-52284796 C>T_ELLGTAPPPPLVSQSPPGSPQRSPW
12:53215769-53215769 C>T	0.0	3879	MELANOMA	-	-	-	-	KRT79	uc001sbb.3,p.G499S|ENST00000330553,p.G499S|uc001sba.3,p.G270S|NM_175834,p.G499S	retained_intron, protein_coding	uc001sbb.3	nonsynonymous SNV	exon9	c.G1495A	p.G499S	GISLGGSGGATKGGFSTNVGYSTVK	GISLGGSGGATKSGFSTNVGYSTVK	1.0	5.0	unscreened	-	3879_12:53215769-53215769 C>T_GISLGGSGGATKSGFSTNVGYSTVK
5:89949028-89949028 G>A	0.0	3879	MELANOMA	-	-	-	-	GPR98	uc003kju.3,p.G1213R|ENST00000405460,p.G1213R|NM_032119,p.G1213R	retained_intron, protein_coding, processed_transcript	uc003kju.3	nonsynonymous SNV	exon20	c.G3637A	p.G1213R	EFYFLKLVNISGGSPGPGGQLAETN	EFYFLKLVNISGRSPGPGGQLAETN	1.0	4.0	unscreened	-	3879_5:89949028-89949028 G>A_EFYFLKLVNISGRSPGPGGQLAETN
12:49165747-49165747 C>T	1.0	3879	MELANOMA	-	-	-	-	ADCY6	uc001rsi.4,p.E880K|uc010slw.1,p.E164K|uc001rsj.4,p.E933K|NM_020983,p.E880K|uc001rsh.4,p.E933K|NM_015270,p.E933K|ENST00000550422,p.E880K|ENST00000357869,p.E880K|ENST00000307885,p.E933K	retained_intron, protein_coding, processed_transcript	uc010slw.1	nonsynonymous SNV	exon6	c.G490A	p.E164K	RLDFLWKLQATGEKEEMEELQAYNR	RLDFLWKLQATGKKEEMEELQAYNR	7.0	3.0	-	-	3879_12:49165747-49165747 C>T_RLDFLWKLQATGKKEEMEELQAYNR
19:757598-757598 G>A	0.0	3879	MELANOMA	-	-	-	-	MISP	uc002lpo.3,p.G218R|NM_173481,p.G218R|ENST00000215582,p.G218R	protein_coding	uc002lpo.3	nonsynonymous SNV	exon2	c.G652A	p.G218R	ANKGAPHSSPARGTPAGTTPGASQA	ANKGAPHSSPARRTPAGTTPGASQA	1.0	8.0	unscreened	-	3879_19:757598-757598 G>A_ANKGAPHSSPARRTPAGTTPGASQA
5:118969714-118969714 G>A	0.0	3879	MELANOMA	-	-	-	-	FAM170A	uc003ksl.2,p.E91K|uc003ksn.3,p.E91K|NM_001163991,p.E44K|ENST00000504819,p.E44K|ENST00000509264,p.E91K|ENST00000515256,p.E91K|ENST00000335286,p.E91K|uc003ksm.2,p.E91K|uc003kso.3,p.E44K|ENST00000379555,p.E44K|NM_182761,p.E91K	protein_coding, nonsense_mediated_decay	uc003kso.3	nonsynonymous SNV	exon2	c.G130A	p.E44K	SPQPQSPLAQVQERGETPPRSQHVS	SPQPQSPLAQVQKRGETPPRSQHVS	1.0	2.0	unscreened	-	3879_5:118969714-118969714 G>A_SPQPQSPLAQVQKRGETPPRSQHVS
15:84685234-84685234 G>A	0.0	3879	MELANOMA	-	-	-	-	ADAMTSL3	ENST00000286744,p.G1419E|uc010bmt.1,p.G1419E|NM_207517,p.G1419E|uc002bjz.4,p.G1419E|NM_001301110,p.G1419E|ENST00000567476,p.G1419E	retained_intron, protein_coding, processed_transcript	uc010bmt.1	nonsynonymous SNV	exon25	c.G4256A	p.G1419E	ATNTRTNSNDPTGEPPPQEPFWEPG	ATNTRTNSNDPTEEPPPQEPFWEPG	2.0	2.0	unscreened	-	3879_15:84685234-84685234 G>A_ATNTRTNSNDPTEEPPPQEPFWEPG
16:3079348-3079348 C>T	0.0	3879	MELANOMA	-	-	-	-	CCDC64B	ENST00000573514,p.R140Q|NM_001103175,p.R347Q|ENST00000572449,p.R347Q|uc002cte.4,p.R140Q|ENST00000389347,p.R347Q|uc002ctf.4,p.R347Q	retained_intron, protein_coding	uc002ctf.4	nonsynonymous SNV	exon6	c.G1040A	p.R347Q	SPPEEILEPPKKRTSLSPAEILEEK	SPPEEILEPPKKQTSLSPAEILEEK	1.0	7.0	unscreened	-	3879_16:3079348-3079348 C>T_SPPEEILEPPKKQTSLSPAEILEEK
12:47178393-47178393 C>T	0.0	3879	MELANOMA	-	-	-	-	SLC38A4	ENST00000266579,p.G142E|uc001rpj.2,p.G142E|NM_001143824,p.G142E|ENST00000447411,p.G142E|uc009zkl.2,p.G142E|ENST00000547477,p.G142E|NM_018018,p.G142E|uc001rpi.2,p.G142E|ENST00000546940,p.G142E	protein_coding	uc009zkl.2	nonsynonymous SNV	exon7	c.G425A	p.G142E	AKEGGSLIYEKLGEKAFGWPGKIGA	AKEGGSLIYEKLEEKAFGWPGKIGA	1.0	3.0	unscreened	-	3879_12:47178393-47178393 C>T_AKEGGSLIYEKLEEKAFGWPGKIGA
2:137814367-137814367 C>T	0.0	3879	MELANOMA	-	-	-	-	THSD7B	ENST00000543459,p.L32F|ENST00000409968,p.L173F|ENST00000413152,p.L142F|uc002tvb.3,p.L32F|ENST00000272643,p.L173F|uc002tva.1,p.L142F	retained_intron, protein_coding, processed_transcript	uc002tvb.3	nonsynonymous SNV	exon1	c.C94T	p.L32F	HFALQPPTEQACLIPCPRDCVVSEF	HFALQPPTEQACFIPCPRDCVVSEF	1.0	6.0	unscreened	-	3879_2:137814367-137814367 C>T_HFALQPPTEQACFIPCPRDCVVSEF
5:140348014-140348014 G>A	0.0	3879	MELANOMA	-	-	-	-	PCDHAC2	NM_018899,p.G555R|NM_031883,p.G555R|uc011dag.2,p.G555R|ENST00000289269,p.G555R|uc003lii.3,p.G555R	protein_coding	uc011dag.2	nonsynonymous SNV	exon1	c.G1663A	p.G555R	REFFVTVEAQDKGSPPLSSTVTANV	REFFVTVEAQDKRSPPLSSTVTANV	1.0	3.0	unscreened	-	3879_5:140348014-140348014 G>A_REFFVTVEAQDKRSPPLSSTVTANV
8:55534005-55534005 G>A	0.0	3879	MELANOMA	-	-	-	-	RP1	uc011ldy.1,p.R160K|NM_006269,p.R160K|ENST00000220676,p.R160K|uc003xsd.1,p.R160K	protein_coding	uc011ldy.1	nonsynonymous SNV	exon1	c.G479A	p.R160K	GMPRPPRSLVVFRNGDPKTRRAVLL	GMPRPPRSLVVFKNGDPKTRRAVLL	1.0	8.0	unscreened	-	3879_8:55534005-55534005 G>A_GMPRPPRSLVVFKNGDPKTRRAVLL
4:167021969-167021969 G>A	0.0	3879	MELANOMA	-	-	-	-	TLL1	NM_012464,p.G995R|uc011cjn.2,p.G1018R|ENST00000507499,p.G1018R|uc011cjo.2,p.G819R|uc003irh.2,p.G995R|ENST00000061240,p.G995R	protein_coding, nonsense_mediated_decay	uc011cjo.2	nonsynonymous SNV	exon21	c.G2455A	p.G819R	IHFHTDDTINKKGFHIRYKSIRYPD	IHFHTDDTINKKRFHIRYKSIRYPD	1.0	5.0	unscreened	-	3879_4:167021969-167021969 G>A_IHFHTDDTINKKRFHIRYKSIRYPD
20:1460549-1460549 C>T	0.0	3879	MELANOMA	-	-	-	-	SIRPB2	uc002wfg.2,p.E83K|ENST00000481731,p.E83K|NM_001122962,p.E83K|ENST00000359801,p.E83K|ENST00000486775,p.E83K	protein_coding, nonsense_mediated_decay	uc002wfg.2	nonsynonymous SNV	exon2	c.G247A	p.E83K	IKWVKVSTQDQQEIYNFKRGSFPGV	IKWVKVSTQDQQKIYNFKRGSFPGV	1.0	3.0	unscreened	-	3879_20:1460549-1460549 C>T_IKWVKVSTQDQQKIYNFKRGSFPGV
16:61935128-61935128 G>A	0.0	3879	MELANOMA	-	-	-	-	CDH8	ENST00000577390,p.L168F|ENST00000585315,p.L168F|uc002eog.2,p.L168F|ENST00000583382,p.L168F|ENST00000584337,p.L168F|ENST00000577730,p.L168F|ENST00000299345,p.L168F|NM_001796,p.L168F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002eog.2	nonsynonymous SNV	exon3	c.C502T	p.L168F	KVQDINDNAPEFLNGPYHATVPEMS	KVQDINDNAPEFFNGPYHATVPEMS	3.0	6.0	unscreened	-	3879_16:61935128-61935128 G>A_KVQDINDNAPEFFNGPYHATVPEMS
8:10467176-10467176 C>T	0.0	3879	MELANOMA	-	-	-	-	RP1L1	NM_178857,p.E1478K|ENST00000382483,p.E1478K|uc003wtc.3,p.E1478K	protein_coding, processed_transcript	uc003wtc.3	nonsynonymous SNV	exon4	c.G4432A	p.E1478K	ERQSGSQLEPGLEKPPGATMMGQEH	ERQSGSQLEPGLKKPPGATMMGQEH	2.0	7.0	unscreened	-	3879_8:10467176-10467176 C>T_ERQSGSQLEPGLKKPPGATMMGQEH
10:71684746-71684746 G>A	0.0	3879	MELANOMA	-	-	-	-	COL13A1	uc001jql.3,p.G427R|NM_080802,p.G405R|ENST00000356340,p.G427R|NM_080801,p.G405R|ENST00000398973,p.G427R|ENST00000357811,p.G405R|ENST00000398966,p.G405R|ENST00000479733,p.G436R|ENST00000398972,p.G427R|uc021psb.1,p.G376R|uc021prz.1,p.G405R|ENST00000398978,p.G427R|NM_080798,p.G370R|ENST00000398974,p.G415R|ENST00000517713,p.G405R|NM_080800,p.G408R|uc021psf.1,p.G427R|uc021psh.1,p.G408R|ENST00000398968,p.G408R|uc021psc.1,p.G408R|uc021pse.1,p.G376R|uc021psg.1,p.G405R|NM_001130103,p.G427R|ENST00000520133,p.G376R|ENST00000398971,p.G427R|uc021psd.1,p.G405R|uc021psa.1,p.G370R|ENST00000398964,p.G398R|ENST00000354547,p.G405R|uc001jqk.2,p.G405R|ENST00000520267,p.G370R|NM_080805,p.G376R|uc010qjf.2,p.G370R|ENST00000398969,p.G370R|ENST00000522165,p.G408R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021psh.1	nonsynonymous SNV	exon23	c.G1222A	p.G408R	GDKGERGAAGEQGPDGPKGSKGEPG	GDKGERGAAGEQRPDGPKGSKGEPG	1.0	8.0	unscreened	-	3879_10:71684746-71684746 G>A_GDKGERGAAGEQRPDGPKGSKGEPG
11:72945214-72945214 G>A	0.0	3879	MELANOMA	-	-	-	-	P2RY2	uc001otj.4,p.D4N|NM_176072,p.D4N|uc001otl.4,p.D4N|ENST00000311131,p.D4N|NM_002564,p.D4N|ENST00000393597,p.D4N|uc021qna.1,p.D4N|ENST00000393596,p.D4N|uc001otk.4,p.D4N|NM_176071,p.D4N	protein_coding	uc021qna.1	nonsynonymous SNV	exon1	c.G10A	p.D4N	MAADLGPWNDTINGTW	MAANLGPWNDTINGTW	1.0	8.0	unscreened	-	3879_11:72945214-72945214 G>A_MAANLGPWNDTINGTW
8:69351881-69351881 G>A	0.0	3879	MELANOMA	-	-	-	-	C8orf34	ENST00000521406,p.E48K|NM_001195639,p.E159K|uc003xyb.3,p.E48K|uc010lyx.2,p.E159K|uc010lyy.2,p.E159K|ENST00000518698,p.E159K|uc010lyz.3,p.E159K|ENST00000348340,p.E73K|ENST00000337103,p.E48K|ENST00000523686,p.E73K|ENST00000539993,p.E73K|NM_052958,p.E159K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lyz.3	nonsynonymous SNV	exon2	c.G475A	p.E159K	GSAALWAESEKSESKGTRRDFRSYD	GSAALWAESEKSKSKGTRRDFRSYD	1.0	2.0	unscreened	-	3879_8:69351881-69351881 G>A_GSAALWAESEKSKSKGTRRDFRSYD
19:9056482-9056482 C>T	0.0	3879	MELANOMA	-	-	-	2	MUC16	NM_024690,p.E10322K|uc002mkp.3,p.E10322K|ENST00000397910,p.E10322K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.G30964A	p.E10322K	SGPGDATLSTIAESLPSSTPVPFSS	SGPGDATLSTIAKSLPSSTPVPFSS	1.0	8.0	unscreened	-	3879_19:9056482-9056482 C>T_SGPGDATLSTIAKSLPSSTPVPFSS
11:77775189-77775189 G>A	0.0	3879	MELANOMA	-	-	-	-	THRSP	uc001oyx.3,p.E88K|NM_003251,p.E88K|uc021qnu.1,p.E88K|ENST00000281030,p.E88K	protein_coding	uc021qnu.1	nonsynonymous SNV	exon1	c.G262A	p.E88K	PREEWQAKVAGSEENGTAETEEVED	PREEWQAKVAGSKENGTAETEEVED	1.0	3.0	unscreened	-	3879_11:77775189-77775189 G>A_PREEWQAKVAGSKENGTAETEEVED
7:134256383-134256383 G>A	0.0	3879	MELANOMA	-	-	-	-	AKR1B15	NM_001080538,p.D155N|uc011kpr.2,p.D155N|ENST00000457545,p.D155N|ENST00000423958,p.D127N	retained_intron, protein_coding	uc011kpr.2	nonsynonymous SNV	exon6	c.G463A	p.D155N	GFKTGDDFFPKDDKGNMISGKGTFL	GFKTGDDFFPKDNKGNMISGKGTFL	1.0	2.0	unscreened	-	3879_7:134256383-134256383 G>A_GFKTGDDFFPKDNKGNMISGKGTFL
8:11995015-11995015 C>T	0.0	3879	MELANOMA	-	-	-	-	USP17L2	NM_201402,p.E419K|uc003wvc.1,p.E419K|ENST00000333796,p.E419K	protein_coding	uc003wvc.1	nonsynonymous SNV	exon1	c.G1255A	p.E419K	ELKRDHPCLQAPELDERLVERATQE	ELKRDHPCLQAPKLDERLVERATQE	1.0	5.0	unscreened	-	3879_8:11995015-11995015 C>T_ELKRDHPCLQAPKLDERLVERATQE
12:25302672-25302672 G>A	0.0	3879	MELANOMA	-	-	-	-	CASC1	uc010sjf.2,p.P41S|NM_001082973,p.P153S|uc010sje.2,p.P94S|uc001rgj.3,p.P113S|uc001rgm.4,p.P217S|NM_001204101,p.P94S|NM_001082972,p.P217S|ENST00000537577,p.P41S|ENST00000545133,p.P94S|ENST00000395987,p.P159S|NM_018272,p.P159S|ENST00000320267,p.P153S|uc010sjg.1,p.P153S|uc001rgk.3,p.P159S|ENST00000395990,p.P113S|uc001rgl.3,p.P153S|ENST00000354189,p.P217S|NM_001204102,p.P113S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sjg.1	nonsynonymous SNV	exon6	c.C457T	p.P153S	LIEKLKFILLETPPCDLQDKNIIQY	LIEKLKFILLETSPCDLQDKNIIQY	2.0	6.0	unscreened	-	3879_12:25302672-25302672 G>A_LIEKLKFILLETSPCDLQDKNIIQY
16:3306530-3306530 C>T	0.0	3879	MELANOMA	-	-	-	-	MEFV	ENST00000538326,p.D20N|ENST00000572244,p.D20N|ENST00000541159,p.D20N|ENST00000219596,p.D20N|NM_001198536,p.D20N|ENST00000536379,p.D20N|uc002cun.1,p.D20N|ENST00000570511,p.D20N|ENST00000574583,p.D20N|ENST00000542898,p.D20N|ENST00000576315,p.D20N|ENST00000539145,p.D20N|NM_000243,p.D20N|ENST00000339854,p.D20N|ENST00000537682,p.D20N|uc021tbw.1,p.D20N|ENST00000536980,p.D20N	retained_intron, protein_coding, nonsense_mediated_decay	uc021tbw.1	nonsynonymous SNV	exon1	c.G58A	p.D20N	HLLSTLEELVPYDFEKFKFKLQNTS	HLLSTLEELVPYNFEKFKFKLQNTS	1.0	6.0	unscreened	-	3879_16:3306530-3306530 C>T_HLLSTLEELVPYNFEKFKFKLQNTS
1:183206622-183206622 G>A	0.0	3879	MELANOMA	-	-	-	-	LAMC2	uc001gpz.4,p.G913R|uc001gqa.2,p.G913R|uc010poa.2,p.G613R|ENST00000264144,p.G913R|NM_018891,p.G913R|ENST00000493293,p.G913R|NM_005562,p.G913R	protein_coding, processed_transcript	uc010poa.2	nonsynonymous SNV	exon18	c.G1837A	p.G613R	NWKEEAQQLLQNGKSGREKSDQLLS	NWKEEAQQLLQNRKSGREKSDQLLS	2.0	8.0	unscreened	-	3879_1:183206622-183206622 G>A_NWKEEAQQLLQNRKSGREKSDQLLS
4:119952530-119952530 G>A	0.0	3879	MELANOMA	-	-	-	-	SYNPO2	ENST00000307142,p.G867E|ENST00000429713,p.G867E|uc010inb.3,p.G867E|NM_133477,p.G867E|uc010ina.3,p.G867E|NM_001128933,p.G867E|uc003icm.4,p.G867E|uc010inc.3,p.G795E|NM_001286754,p.G836E|NM_001128934,p.G867E|ENST00000434046,p.G867E	protein_coding	uc010inc.3	nonsynonymous SNV	exon3	c.G2384A	p.G795E	QPGAVGPSNELPGMSGRGAQLFAKR	QPGAVGPSNELPEMSGRGAQLFAKR	3.0	5.0	unscreened	-	3879_4:119952530-119952530 G>A_QPGAVGPSNELPEMSGRGAQLFAKR
10:124330416-124330416 T>A	0.0	3879	MELANOMA	-	-	-	-	DMBT1	uc010qtx.1,p.F50L|ENST00000330163,p.F50L|NM_004406,p.F50L|ENST00000368955,p.F50L|uc001lgm.1,p.F50L|uc021qaf.1,p.F50L|uc021qag.1,p.F50L|NM_017579,p.F50L|uc021qah.1,p.F50L|uc009xzz.1,p.F50L|ENST00000344338,p.F50L|ENST00000368909,p.F50L|ENST00000359586,p.F50L|ENST00000368956,p.F50L|uc001lgl.1,p.F50L|ENST00000338354,p.F50L|uc001lgk.1,p.F50L|NM_007329,p.F50L	protein_coding	uc021qah.1	nonsynonymous SNV	exon4	c.T150A	p.F50L	VPLDPTVAEGSPFPSESTLESTVAE	VPLDPTVAEGSPLPSESTLESTVAE	1.0	6.0	unscreened	-	3879_10:124330416-124330416 T>A_VPLDPTVAEGSPLPSESTLESTVAE
17:34097309-34097309 G>A	0.0	3879	MELANOMA	-	-	-	-	MMP28	ENST00000587639,p.S209F|ENST00000589061,p.S209F|ENST00000590643,p.S209F|ENST00000589103,p.S209F	protein_coding, nonsense_mediated_decay	ENST00000590643	nonsynonymous SNV	exon5	c.C626T	p.S209F	PLMAQGAPWRTPSCPAAAKRTSTKM	PLMAQGAPWRTPFCPAAAKRTSTKM	1.0	7.0	unscreened	-	3879_17:34097309-34097309 G>A_PLMAQGAPWRTPFCPAAAKRTSTKM
9:37034026-37034026 C>T	0.0	3879	MELANOMA	-	-	-	1	PAX5	uc010mls.1,p.M1I|uc011lqc.1,p.M1I|ENST00000414447,p.M1I|NM_001280549,p.M1I|uc011lpx.1,p.M1I|ENST00000520281,p.M1I|ENST00000358127,p.M1I|uc011lpw.1,p.M1I|uc010mlo.1,p.M1I|NM_001280547,p.M1I|NM_001280555,p.M1I|uc003zzo.1,p.M1I|NM_001280550,p.M1I|NM_001280554,p.M1I|ENST00000520154,p.M1I|NM_001280553,p.M1I|ENST00000377847,p.M1I|uc010mlp.1,p.M1I|uc011lpz.1,p.M1I|ENST00000377840,p.M1I|ENST00000377852,p.M1I|ENST00000523241,p.M1I|ENST00000377853,p.M1I|NM_001280552,p.M1I|ENST00000523493,p.M1I|uc010mlr.1,p.M1I|NM_016734,p.M1I|NM_001280548,p.M1I|ENST00000446742,p.M1I	retained_intron, protein_coding, nonsense_mediated_decay	uc011lqc.1	nonsynonymous SNV	exon1	c.G3A	p.M1I	MDLEKNYPTPRTS	IDLEKNYPTPRTS	1.0	2.0	unscreened	-	3879_9:37034026-37034026 C>T_IDLEKNYPTPRTS
11:70348386-70348386 G>A	0.0	3879	MELANOMA	-	-	-	-	SHANK2	ENST00000409530,p.P146S|ENST00000424924,p.P24S|ENST00000338508,p.P736S|ENST00000449833,p.P147S|ENST00000294018,p.P366S|ENST00000449116,p.P147S|ENST00000409161,p.P146S|uc001opz.3,p.P147S|ENST00000423696,p.P356S|ENST00000357171,p.P147S|NM_133266,p.P147S|uc010rqp.1,p.P147S|uc010rqn.2,p.P147S	protein_coding, processed_transcript	uc010rqp.1	nonsynonymous SNV	exon4	c.C439T	p.P147S	LDPDDTARKKAPPPPKRAPTTALTL	LDPDDTARKKAPSPPKRAPTTALTL	1.0	3.0	unscreened	-	3879_11:70348386-70348386 G>A_LDPDDTARKKAPSPPKRAPTTALTL
14:50597450-50597450 G>A	1.0	3879	MELANOMA	-	-	-	-	SOS2	uc010tql.2,p.P1003S|ENST00000216373,p.P1036S|ENST00000543680,p.P1003S|uc001wxs.4,p.P1036S|NM_006939,p.P1036S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tql.2	nonsynonymous SNV	exon19	c.C3007T	p.P1003S	RFPRKSTFSLKSPGIRPNTGRHGST	RFPRKSTFSLKSSGIRPNTGRHGST	9.0	7.0	-	-	3879_14:50597450-50597450 G>A_RFPRKSTFSLKSSGIRPNTGRHGST
16:57984397-57984397 C>T	0.0	3879	MELANOMA	-	-	-	-	CNGB1	ENST00000251102,p.E308K|uc010cdh.2,p.E302K|NM_001286130,p.E302K|NM_001297,p.E308K|uc002emt.2,p.E308K|ENST00000564448,p.E302K	retained_intron, protein_coding, processed_transcript	uc010cdh.2	nonsynonymous SNV	exon13	c.G904A	p.E302K	PGGQVEPDLVLEEVEPPWEDAHQDV	PGGQVEPDLVLEKVEPPWEDAHQDV	1.0	7.0	unscreened	-	3879_16:57984397-57984397 C>T_PGGQVEPDLVLEKVEPPWEDAHQDV
12:53164796-53164796 C>T	0.0	3879	MELANOMA	-	-	ID=COSM3462443;OCCURENCE=1(large_intestine)	-	KRT76	ENST00000332411,p.G491R|uc001sax.3,p.G491R|NM_015848,p.G491R	protein_coding	uc001sax.3	nonsynonymous SNV	exon7	c.G1471A	p.G491R	DVEIATYRKLLEGEECRMSGECQSA	DVEIATYRKLLEREECRMSGECQSA	1.0	6.0	unscreened	-	3879_12:53164796-53164796 C>T_DVEIATYRKLLEREECRMSGECQSA
22:43607050-43607050 T>G	0.0	3879	MELANOMA	-	-	-	-	SCUBE1	NM_173050,p.H754P|uc003bdt.2,p.H754P|ENST00000360835,p.H754P	protein_coding, processed_transcript	uc003bdt.2	nonsynonymous SNV	exon18	c.A2261C	p.H754P	HCSPGHHYNTTTHRCIRCPVGTYQP	HCSPGHHYNTTTPRCIRCPVGTYQP	1.0	6.0	unscreened	-	3879_22:43607050-43607050 T>G_HCSPGHHYNTTTPRCIRCPVGTYQP
21:45987851-45987851 A>T	0.0	3879	MELANOMA	-	-	-	-	TSPEAR	NM_144991,p.S41T|ENST00000323084,p.S41T|uc002zfe.1,p.S41T	protein_coding	uc002zfe.1	nonsynonymous SNV	exon2	c.T121A	p.S41T	LRPLDILAEVVPSDGATSGIRIVQV	LRPLDILAEVVPTDGATSGIRIVQV	1.0	6.0	unscreened	-	3879_21:45987851-45987851 A>T_LRPLDILAEVVPTDGATSGIRIVQV
12:79685800-79685800 G>A	0.0	3879	MELANOMA	-	-	-	-	SYT1	uc001syu.3,p.D119N|ENST00000457153,p.D119N|ENST00000552624,p.D119N|NM_001291901,p.D119N	protein_coding, processed_transcript	uc001syu.3	nonsynonymous SNV	exon5	c.G355A	p.D119N	VKDLGKTMKDQDDDAETGLTDGEEK	VKDLGKTMKDQDNDAETGLTDGEEK	2.0	3.0	unscreened	-	3879_12:79685800-79685800 G>A_VKDLGKTMKDQDNDAETGLTDGEEK
8:22138977-22138977 T>G	0.0	3879	MELANOMA	-	-	-	-	PIWIL2	NM_001135721,p.V125G|uc003xbn.2,p.V125G|ENST00000521356,p.V125G|uc010ltv.2,p.V125G|NM_018068,p.V125G|ENST00000454009,p.V125G|uc011kzf.1,p.V125G|ENST00000356766,p.V125G	retained_intron, protein_coding	uc011kzf.1	nonsynonymous SNV	exon4	c.T374G	p.V125G	REELSPTFWDPKVLAAGDSKMAETS	REELSPTFWDPKGLAAGDSKMAETS	1.0	7.0	unscreened	-	3879_8:22138977-22138977 T>G_REELSPTFWDPKGLAAGDSKMAETS
13:25744320-25744320 C>T	0.0	3879	MELANOMA	-	-	-	-	AMER2	uc001uqa.3,p.E361K|ENST00000357816,p.E361K|ENST00000381853,p.E361K|uc001uqb.3,p.E480K|uc001uqc.3,p.E361K|NM_152704,p.E480K|NM_199138,p.E361K|ENST00000515384,p.E480K	protein_coding	uc001uqc.3	nonsynonymous SNV	exon3	c.G1081A	p.E361K	VVPETPKDTRCVEAAKDASSVKRRR	VVPETPKDTRCVKAAKDASSVKRRR	2.0	8.0	unscreened	-	3879_13:25744320-25744320 C>T_VVPETPKDTRCVKAAKDASSVKRRR
5:140175678-140175678 C>T	0.0	3879	MELANOMA	-	-	-	-	PCDHA2	uc011czy.2,p.R377C|uc003lhd.2,p.R377C|ENST00000520672,p.R377C|ENST00000526136,p.R377C|NM_018905,p.R377C|NM_031495,p.R377C|NM_031496,p.R377C|ENST00000378132,p.R377C|uc003lhc.1,p.R377C	protein_coding	uc011czy.2	nonsynonymous SNV	exon1	c.C1129T	p.R377C	LGTVIALITVSDRDSGTNGHVTCSL	LGTVIALITVSDCDSGTNGHVTCSL	2.0	3.0	unscreened	-	3879_5:140175678-140175678 C>T_LGTVIALITVSDCDSGTNGHVTCSL
7:21882178-21882178 G>A	0.0	3879	MELANOMA	-	-	-	-	DNAH11	ENST00000409508,p.D3570N|ENST00000328843,p.D3577N|uc031swq.1,p.D1767N|NM_001277115,p.D3570N|uc031swp.1,p.D3570N	retained_intron, protein_coding, processed_transcript	uc031swq.1	nonsynonymous SNV	exon66	c.G5299A	p.D1767N	NTIKKGKYIRIGDKECEFNKNFRLI	NTIKKGKYIRIGNKECEFNKNFRLI	1.0	3.0	unscreened	-	3879_7:21882178-21882178 G>A_NTIKKGKYIRIGNKECEFNKNFRLI
5:39202072-39202072 C>T	1.0	3879	MELANOMA	-	-	-	-	FYB	uc003jlu.3,p.E331K|uc003jlt.3,p.E331K|ENST00000512982,p.E331K|ENST00000515010,p.E331K|ENST00000540520,p.E341K|ENST00000505428,p.E331K|uc003jls.3,p.E331K|NM_001243093,p.E341K|NM_001465,p.E331K|NM_199335,p.E331K|ENST00000351578,p.E331K|uc011cpl.2,p.E341K	protein_coding, processed_transcript	uc011cpl.2	nonsynonymous SNV	exon2	c.G1021A	p.E341K	KLTVGGPWGQSQEKEKGDKNSATPK	KLTVGGPWGQSQKKEKGDKNSATPK	5.0	8.0	-	-	3879_5:39202072-39202072 C>T_KLTVGGPWGQSQKKEKGDKNSATPK
10:30316735-30316735 C>T	0.0	3879	MELANOMA	0.0	-	-	-	KIAA1462	NM_020848,p.R781Q|uc009xle.2,p.R781Q|ENST00000375377,p.R781Q|uc001iuz.3,p.R643Q|uc001iux.3,p.R781Q	protein_coding, processed_transcript	uc009xle.2	nonsynonymous SNV	exon3	c.G2342A	p.R781Q	LSVDQAPTPKAGRSQPCVDVHGLGA	LSVDQAPTPKAGQSQPCVDVHGLGA	4.0	7.0	unscreened	-	3879_10:30316735-30316735 C>T_LSVDQAPTPKAGQSQPCVDVHGLGA
19:9069660-9069660 G>A	0.0	3879	MELANOMA	0.0	-	-	2	MUC16	uc002mkp.3,p.S5929F|ENST00000397910,p.S5929F|NM_024690,p.S5929F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C17786T	p.S5929F	SPPSVEETSSPSSPVPLPAITSHSS	SPPSVEETSSPSFPVPLPAITSHSS	1.0	5.0	unscreened	-	3879_19:9069660-9069660 G>A_SPPSVEETSSPSFPVPLPAITSHSS
17:37369334-37369334 C>G	0.0	3879	MELANOMA	-	-	-	-	STAC2	NM_198993,p.V349L|ENST00000333461,p.V349L|uc010cvt.3,p.V207L|uc002hrs.3,p.V349L	protein_coding, nonsense_mediated_decay	uc010cvt.3	nonsynonymous SNV	exon10	c.G619C	p.V207L	RVGFFPANFVQRVRPGENVWRCCQP	RVGFFPANFVQRLRPGENVWRCCQP	1.0	6.0	unscreened	-	3879_17:37369334-37369334 C>G_RVGFFPANFVQRLRPGENVWRCCQP
2:179621099-179621099 C>T	0.0	3879	MELANOMA	-	-	-	-	TTN	NM_133437,p.E3531K|uc021vsz.2,p.E3531K|ENST00000342175,p.E3531K|uc031rqc.1,p.E3702K|NM_001267550,p.E3702K|ENST00000589042,p.E3702K	retained_intron, protein_coding	uc031rqc.1	nonsynonymous SNV	exon46	c.G11104A	p.E3702K	DVTWTHEGAKIEESERLKQSQNGNI	DVTWTHEGAKIEKSERLKQSQNGNI	1.0	7.0	unscreened	-	3879_2:179621099-179621099 C>T_DVTWTHEGAKIEKSERLKQSQNGNI
8:24188812-24188812 G>A	0.0	3879	MELANOMA	-	-	-	-	ADAM28	ENST00000437154,p.G418E|ENST00000397649,p.G165E|ENST00000540823,p.G185E|uc010lua.3,p.G105E|NM_014265,p.G418E|uc011kzz.2,p.G185E|uc003xdx.3,p.G418E|NM_021777,p.G418E|uc003xdy.3,p.G418E|ENST00000265769,p.G418E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kzz.2	nonsynonymous SNV	exon11	c.G554A	p.G185E	STPICGNQLVEMGEDCDCGTSEECT	STPICGNQLVEMEEDCDCGTSEECT	3.0	8.0	unscreened	-	3879_8:24188812-24188812 G>A_STPICGNQLVEMEEDCDCGTSEECT
2:100917207-100917207 C>T	0.0	3879	MELANOMA	-	-	-	-	LONRF2	uc002tal.4,p.E322K|ENST00000409647,p.E79K|ENST00000393437,p.E322K|NM_198461,p.E322K	protein_coding	uc002tal.4	nonsynonymous SNV	exon4	c.G964A	p.E322K	CEVLFSATANVHENLTSSIQSRLKA	CEVLFSATANVHKNLTSSIQSRLKA	1.0	3.0	unscreened	-	3879_2:100917207-100917207 C>T_CEVLFSATANVHKNLTSSIQSRLKA
16:23767244-23767244 G>A	0.0	3879	MELANOMA	0.0009	-	-	-	CHP2	ENST00000300113,p.D73N|uc002dmb.1,p.D73N|NM_022097,p.D73N	protein_coding	uc002dmb.1	nonsynonymous SNV	exon3	c.G217A	p.D73N	PLGDRIIESFFPDGSQRVDFPGFVR	PLGDRIIESFFPNGSQRVDFPGFVR	1.0	6.0	unscreened	-	3879_16:23767244-23767244 G>A_PLGDRIIESFFPNGSQRVDFPGFVR
10:118359667-118359667 C>T	0.0	3879	MELANOMA	-	-	-	-	PNLIPRP1	uc001lco.1,p.S308F|ENST00000534537,p.S308F|ENST00000358834,p.S308F|uc001lcp.2,p.S308F|NM_006229,p.S308F|ENST00000528052,p.S308F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001lcp.2	nonsynonymous SNV	exon9	c.C923T	p.S308F	DGFAAYPCTSYKSFESDKCFPCPDQ	DGFAAYPCTSYKFFESDKCFPCPDQ	1.0	7.0	unscreened	-	3879_10:118359667-118359667 C>T_DGFAAYPCTSYKFFESDKCFPCPDQ
5:89949496-89949496 G>A	0.0	3879	MELANOMA	-	-	-	-	GPR98	NM_032119,p.G1369R|uc003kju.3,p.G1369R|ENST00000405460,p.G1369R	retained_intron, protein_coding, processed_transcript	uc003kju.3	nonsynonymous SNV	exon20	c.G4105A	p.G1369R	FSAWVMPNANTNGFIIAKDDGNGSI	FSAWVMPNANTNRFIIAKDDGNGSI	1.0	5.0	unscreened	-	3879_5:89949496-89949496 G>A_FSAWVMPNANTNRFIIAKDDGNGSI
19:35524439-35524439 G>A	1.0	3879	MELANOMA	-	-	-	-	SCN1B	uc002nxo.2,p.E82K|NM_001037,p.E82K|NM_199037,p.E82K|ENST00000262631,p.E82K|ENST00000415950,p.E82K|uc002nxp.3,p.E82K	retained_intron, protein_coding	uc002nxp.3	nonsynonymous SNV	exon3	c.G244A	p.E82K	ILRYENEVLQLEEDERFEGRVVWNG	ILRYENEVLQLEKDERFEGRVVWNG	1.0	5.0	unscreened	-	3879_19:35524439-35524439 G>A_ILRYENEVLQLEKDERFEGRVVWNG
1:153012777-153012777 G>A	0.0	3879	MELANOMA	-	-	-	-	SPRR2D	ENST00000368758,p.P16S|uc001fbb.2,p.P16S|ENST00000368757,p.P16S|ENST00000360379,p.P16S|NM_006945,p.P16S|uc021ozq.1,p.P16S|ENST00000368756,p.P16S	protein_coding	uc021ozq.1	nonsynonymous SNV	exon1	c.C46T	p.P16S	QQQQCKQPCQPPPVCPTPKCPEPCP	QQQQCKQPCQPPSVCPTPKCPEPCP	1.0	7.0	unscreened	-	3879_1:153012777-153012777 G>A_QQQQCKQPCQPPSVCPTPKCPEPCP
14:21795943-21795943 G>A	0.0	3879	MELANOMA	-	-	-	-	RPGRIP1	uc001wai.3,p.E284K|uc001wal.3,p.E317K|uc001wag.3,p.E958K|ENST00000557771,p.E920K|ENST00000400017,p.E958K|ENST00000382933,p.E284K|ENST00000307974,p.E317K|NM_020366,p.E958K|uc010aim.3,p.E341K|ENST00000555587,p.E433K|uc001wak.3,p.E433K|uc001wah.3,p.E600K|uc001wam.3,p.E275K|ENST00000206660,p.E958K|ENST00000556336,p.E615K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010aim.3	nonsynonymous SNV	exon6	c.G1021A	p.E341K	DTKDSSKISSEEEKASFPSQDQMAS	DTKDSSKISSEEKKASFPSQDQMAS	1.0	8.0	unscreened	-	3879_14:21795943-21795943 G>A_DTKDSSKISSEEKKASFPSQDQMAS
1:181762816-181762816 G>A	0.0	3879	MELANOMA	-	-	-	-	CACNA1E	NM_001205293,p.E1972K|ENST00000367573,p.E1972K|uc009wxt.3,p.E1972K|ENST00000360108,p.E1953K|ENST00000357570,p.E1923K	retained_intron, protein_coding	uc009wxt.3	nonsynonymous SNV	exon45	c.G5914A	p.E1972K	FQERQSLEPEVSELKSVQPSNHGIY	FQERQSLEPEVSKLKSVQPSNHGIY	1.0	5.0	unscreened	-	3879_1:181762816-181762816 G>A_FQERQSLEPEVSKLKSVQPSNHGIY
12:79685800-79685800 G>A	0.0	3879	MELANOMA	-	-	-	-	SYT1	uc001syt.3,p.D122N|NM_001135805,p.D122N|ENST00000446242,p.D122N|NM_005639,p.D122N|uc001sys.3,p.D122N|ENST00000552744,p.D122N|uc001syv.3,p.D122N|NM_001135806,p.D122N|ENST00000393240,p.D122N|ENST00000261205,p.D122N	protein_coding, processed_transcript	uc001syv.3	nonsynonymous SNV	exon5	c.G364A	p.D122N	LGKTMKDQALKDDDAETGLTDGEEK	LGKTMKDQALKDNDAETGLTDGEEK	2.0	3.0	unscreened	-	3879_12:79685800-79685800 G>A_LGKTMKDQALKDNDAETGLTDGEEK
4:169204620-169204620 C>T	0.0	3879	MELANOMA	-	-	-	-	DDX60	ENST00000393743,p.G567R|NM_017631,p.G567R|uc003irp.3,p.G567R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003irp.3	nonsynonymous SNV	exon13	c.G1699A	p.G567R	VTQTIKSKKDFSGPKSKKAHETKAE	VTQTIKSKKDFSRPKSKKAHETKAE	4.0	4.0	unscreened	-	3879_4:169204620-169204620 C>T_VTQTIKSKKDFSRPKSKKAHETKAE
1:2938932-2938932 G>A	0.0	3879	MELANOMA	-	-	-	-	ACTRT2	NM_080431,p.E228K|uc001ajz.3,p.E228K|ENST00000378404,p.E228K	protein_coding	uc001ajz.3	nonsynonymous SNV	exon1	c.G682A	p.E228K	IKKKLCYVALEPEKELSRRPEEVLR	IKKKLCYVALEPKKELSRRPEEVLR	1.0	3.0	unscreened	-	3879_1:2938932-2938932 G>A_IKKKLCYVALEPKKELSRRPEEVLR
10:72496527-72496527 G>A	0.0	3879	MELANOMA	-	-	-	-	ADAMTS14	uc001jri.1,p.G49E|ENST00000373208,p.G529E|ENST00000373207,p.G526E|uc001jrh.3,p.G526E|uc001jrg.3,p.G529E|NM_080722,p.G526E|NM_139155,p.G529E	protein_coding	uc001jri.1	nonsynonymous SNV	exon3	c.G146A	p.G49E	YFCKTKKGPPLDGTECAPGKWCFKG	YFCKTKKGPPLDETECAPGKWCFKG	1.0	6.0	unscreened	-	3879_10:72496527-72496527 G>A_YFCKTKKGPPLDETECAPGKWCFKG
8:30705759-30705759 C>T	0.0	3879	MELANOMA	-	-	-	-	TEX15	NM_031271,p.E259K|uc003xil.3,p.E259K|ENST00000256246,p.E259K	protein_coding, processed_transcript	uc003xil.3	nonsynonymous SNV	exon1	c.G775A	p.E259K	SSKHEEKQTSWKEIDNDFTNETKIS	SSKHEEKQTSWKKIDNDFTNETKIS	1.0	3.0	unscreened	-	3879_8:30705759-30705759 C>T_SSKHEEKQTSWKKIDNDFTNETKIS
17:76547636-76547636 C>T	0.0	3879	MELANOMA	-	-	-	-	DNAH17	NM_173628,p.G791E|ENST00000389840,p.G791E|ENST00000585328,p.G791E|uc010dhp.2,p.G791E|uc002jvv.2,p.G493E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dhp.2	nonsynonymous SNV	exon16	c.G2372A	p.G791E	QNRMQKAKQNIEGISQAMKDWSANP	QNRMQKAKQNIEEISQAMKDWSANP	1.0	5.0	unscreened	-	3879_17:76547636-76547636 C>T_QNRMQKAKQNIEEISQAMKDWSANP
X:155003925-155003925 G>A	1.0	3879	MELANOMA	-	-	-	-	SPRY3	uc004fnq.1,p.G131E|ENST00000302805,p.G131E|uc022cio.1,p.G131E|NM_005840,p.G131E	protein_coding	uc022cio.1	nonsynonymous SNV	exon1	c.G392A	p.G131E	AGVHPKADGALKGEAEQSAGHPSEH	AGVHPKADGALKEEAEQSAGHPSEH	4.0	7.0	-	-	3879_X:155003925-155003925 G>A_AGVHPKADGALKEEAEQSAGHPSEH
2:231253277-231253277 G>A	1.0	3879	MELANOMA	-	-	-	-	SP140L	ENST00000415673,p.R263K|ENST00000396563,p.R263K|uc010fxo.1,p.R70K|NM_138402,p.R263K|ENST00000243810,p.R263K|uc010fxm.1,p.R263K|ENST00000444636,p.R263K	retained_intron, protein_coding	uc010fxo.1	nonsynonymous SNV	exon5	c.G209A	p.R70K	NMNLKDLSKIRGRKRGKPGTHFTQS	NMNLKDLSKIRGKKRGKPGTHFTQS	5.0	7.0	-	-	3879_2:231253277-231253277 G>A_NMNLKDLSKIRGKKRGKPGTHFTQS
10:55582225-55582225 G>A	0.0	3879	MELANOMA	-	-	-	-	PCDH15	NM_001142766,p.S1751F|uc010qhz.1,p.S1756F|NM_001142763,p.S1761F|NM_001142773,p.S1731F|uc010qhv.1,p.S1751F|uc010qia.1,p.S1734F|uc021pqy.1,p.S1756F|ENST00000361849,p.S1756F|ENST00000320301,p.S1754F|NM_001142764,p.S1756F|NM_001142765,p.S1685F|uc010qhy.1,p.S1761F|NM_001142767,p.S1714F|ENST00000395430,p.S1751F|NM_033056,p.S1754F|NM_001142768,p.S1734F|uc010qhw.1,p.S1714F|ENST00000395433,p.S1731F|ENST00000437009,p.S1685F|uc001jju.1,p.S1754F|uc010qib.1,p.S1731F|uc010qhx.1,p.S1685F|uc021pqz.1,p.S1731F|ENST00000395432,p.S1714F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqz.1	nonsynonymous SNV	exon31	c.C5192T	p.S1731F	PSACPLPPPPPISPPSPPPAPAPLA	PSACPLPPPPPIFPPSPPPAPAPLA	1.0	3.0	unscreened	-	3879_10:55582225-55582225 G>A_PSACPLPPPPPIFPPSPPPAPAPLA
15:83333653-83333653 C>T	0.0	3879	MELANOMA	-	-	-	-	AP3B2	ENST00000535348,p.E640K|ENST00000535359,p.E691K|NM_001278512,p.E691K|NM_004644,p.E672K|uc010uoh.2,p.E672K|uc010uog.2,p.E308K|uc010uoj.2,p.E640K|uc010uoi.2,p.E691K|ENST00000261722,p.E672K|NM_001278511,p.E640K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uoj.2	nonsynonymous SNV	exon16	c.G1918A	p.E640K	EWTKCSNREKRKEKEKPFYSDSEGE	EWTKCSNREKRKKKEKPFYSDSEGE	2.0	3.0	unscreened	-	3879_15:83333653-83333653 C>T_EWTKCSNREKRKKKEKPFYSDSEGE
2:158300366-158300366 C>T	0.0	3879	MELANOMA	-	-	ID=COSM1691178;OCCURENCE=1(skin)	-	CYTIP	ENST00000457793,p.R56Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000457793	nonsynonymous SNV	exon1	c.G167A	p.R56Q	MLADTVATLPRGRKQNDF	MLADTVATLPRGQKQNDF	2.0	3.0	unscreened	-	3879_2:158300366-158300366 C>T_MLADTVATLPRGQKQNDF
2:130951763-130951763 C>T	0.0	3879	MELANOMA	-	-	-	-	TUBA3E	uc002tqv.3,p.D218N|ENST00000312988,p.D218N|NM_207312,p.D218N	protein_coding	uc002tqv.3	nonsynonymous SNV	exon4	c.G652A	p.D218N	NEAIYDICRRNLDIERPTYTNLNRL	NEAIYDICRRNLNIERPTYTNLNRL	1.0	6.0	unscreened	-	3879_2:130951763-130951763 C>T_NEAIYDICRRNLNIERPTYTNLNRL
5:35065678-35065678 G>A	0.0	3879	MELANOMA	-	-	-	-	PRLR	uc003jjm.3,p.S461F|ENST00000342362,p.S360F|NM_000949,p.S461F|ENST00000511486,p.S360F|NM_001204314,p.S360F|ENST00000382002,p.S461F|uc003jjl.4,p.S360F	protein_coding, processed_transcript, nonsense_mediated_decay	uc003jjm.3	nonsynonymous SNV	exon10	c.C1382T	p.S461F	TLLNEAGKDALKSSQTIKSREEGKA	TLLNEAGKDALKFSQTIKSREEGKA	1.0	6.0	unscreened	-	3879_5:35065678-35065678 G>A_TLLNEAGKDALKFSQTIKSREEGKA
19:22940130-22940130 C>T	0.0	3879	MELANOMA	-	-	-	-	ZNF99	uc021urt.1,p.E861K|NM_001080409,p.E861K|ENST00000596209,p.E861K	protein_coding	uc021urt.1	nonsynonymous SNV	exon4	c.G2581A	p.E861K	NVAKLLNISQPLENMR	NVAKLLNISQPLKNMR	1.0	8.0	unscreened	-	3879_19:22940130-22940130 C>T_NVAKLLNISQPLKNMR
2:179517452-179517452 G>A	0.0	3879	MELANOMA	-	-	-	-	TTN	ENST00000589042,p.P12991S|NM_001267550,p.P12991S|uc031rqc.1,p.P12991S	retained_intron, protein_coding	uc031rqc.1	nonsynonymous SNV	exon201	c.C38971T	p.P12991S	KPEVPPVKVPEAPKEVVPEKKVPSA	KPEVPPVKVPEASKEVVPEKKVPSA	1.0	4.0	unscreened	-	3879_2:179517452-179517452 G>A_KPEVPPVKVPEASKEVVPEKKVPSA
10:124380630-124380630 G>A	0.0	3879	MELANOMA	0.0005	-	-	-	DMBT1	ENST00000368956,p.R1024Q|uc021qaf.1,p.R1652Q|uc001lgk.1,p.R1652Q|NM_017579,p.R1642Q|ENST00000338354,p.R1652Q|NM_007329,p.R1652Q|uc021qah.1,p.R1024Q|uc009yab.1,p.R355Q|uc009xzz.1,p.R1652Q|uc001lgm.1,p.R1024Q|uc001lgl.1,p.R1642Q|ENST00000368909,p.R1652Q|ENST00000368955,p.R1642Q|ENST00000344338,p.R1642Q|NM_004406,p.R1024Q|ENST00000330163,p.R1024Q|uc021qag.1,p.R1642Q	protein_coding	uc021qah.1	nonsynonymous SNV	exon28	c.G3071A	p.R1024Q	LRLVNGGDRCRGRVEVLYRGSWGTV	LRLVNGGDRCRGQVEVLYRGSWGTV	1.0	5.0	unscreened	-	3879_10:124380630-124380630 G>A_LRLVNGGDRCRGQVEVLYRGSWGTV
1:26162287-26162287 G>T	0.0	3879	MELANOMA	-	-	-	-	AUNIP	ENST00000538789,p.Q91K|uc001bkw.1,p.Q91K|NM_001287490,p.Q91K|NM_024037,p.Q91K|ENST00000374298,p.Q91K	protein_coding, processed_transcript	uc001bkw.1	nonsynonymous SNV	exon3	c.C271A	p.Q91K	SDQKSVSSHTESQINKESKKNATQL	SDQKSVSSHTESKINKESKKNATQL	1.0	3.0	unscreened	-	3879_1:26162287-26162287 G>T_SDQKSVSSHTESKINKESKKNATQL
7:142630448-142630448 G>A	0.0	3879	MELANOMA	-	-	-	-	TRPV5	uc003wby.1,p.H37Y|ENST00000442623,p.H37Y|NM_019841,p.H37Y|ENST00000439304,p.H31Y|uc003wbz.3,p.H37Y|ENST00000265310,p.H37Y	protein_coding	uc003wbz.3	nonsynonymous SNV	exon1	c.C109T	p.H37Y	REQDWDQHLDKLHMLQQKRILESPL	REQDWDQHLDKLYMLQQKRILESPL	1.0	5.0	unscreened	-	3879_7:142630448-142630448 G>A_REQDWDQHLDKLYMLQQKRILESPL
4:71347381-71347381 C>T	0.0	3879	MELANOMA	-	-	-	-	MUC7	NM_001145007,p.P307L|NM_152291,p.P307L|ENST00000456088,p.P307L|ENST00000413702,p.P307L|uc003hfj.3,p.P307L|NM_001145006,p.P307L|uc011cau.2,p.P307L|ENST00000304887,p.P307L|uc011cat.2,p.P307L	retained_intron, protein_coding, processed_transcript	uc011cau.2	nonsynonymous SNV	exon4	c.C920T	p.P307L	PSSPAPQETTAAPITTPNSSPTTLA	PSSPAPQETTAALITTPNSSPTTLA	1.0	5.0	unscreened	-	3879_4:71347381-71347381 C>T_PSSPAPQETTAALITTPNSSPTTLA
19:9067432-9067432 T>G	0.0	3879	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.T6672P|uc002mkp.3,p.T6672P|NM_024690,p.T6672P	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.A20014C	p.T6672P	KGTSTSQDPIVSTEKSAVLHKLTTG	KGTSTSQDPIVSPEKSAVLHKLTTG	1.0	6.0	unscreened	-	3879_19:9067432-9067432 T>G_KGTSTSQDPIVSPEKSAVLHKLTTG
19:19329967-19329967 G>A	0.0	3879	MELANOMA	-	-	-	-	NCAN	ENST00000252575,p.S106N|uc002nlz.3,p.S106N|NM_004386,p.S106N	retained_intron, protein_coding	uc002nlz.3	nonsynonymous SNV	exon3	c.G317A	p.S106N	LVAKDNVVRVAKSWQGRVSLPSYPR	LVAKDNVVRVAKNWQGRVSLPSYPR	1.0	5.0	unscreened	-	3879_19:19329967-19329967 G>A_LVAKDNVVRVAKNWQGRVSLPSYPR
10:87362154-87362154 C>T	0.0	3879	MELANOMA	-	-	-	-	GRID1	uc010qmf.1,p.R540K|NM_017551,p.R969K|ENST00000327946,p.R969K|uc001kdl.1,p.R969K|ENST00000536331,p.R540K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qmf.1	nonsynonymous SNV	exon9	c.G1619A	p.R540K	SSATMPSMQCKHRSPNGGLFRQSPV	SSATMPSMQCKHKSPNGGLFRQSPV	2.0	6.0	unscreened	-	3879_10:87362154-87362154 C>T_SSATMPSMQCKHKSPNGGLFRQSPV
2:179466465-179466465 C>T	0.0	3879	MELANOMA	-	-	-	-	TTN	uc031rqc.1,p.R18451Q|uc021vta.2,p.R9511Q|NM_001256850,p.R16810Q|uc021vtb.2,p.R9386Q|ENST00000460472,p.R9386Q|uc021vsy.2,p.R15883Q|ENST00000342992,p.R15883Q|NM_003319,p.R9386Q|ENST00000591111,p.R16810Q|ENST00000342175,p.R9578Q|uc031rqd.1,p.R16810Q|NM_001267550,p.R18451Q|ENST00000589042,p.R18451Q|NM_133378,p.R15883Q|NM_133437,p.R9578Q|ENST00000359218,p.R9511Q|uc021vsz.2,p.R9578Q|NM_133432,p.R9511Q	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon236	c.G50429A	p.R16810Q	ENSSVIIIPECKRSHTGKYSITAKN	ENSSVIIIPECKQSHTGKYSITAKN	1.0	7.0	unscreened	-	3879_2:179466465-179466465 C>T_ENSSVIIIPECKQSHTGKYSITAKN
11:75316939-75316939 T>G	0.0	3879	MELANOMA	-	-	-	-	MAP6	NM_207577,p.K410N|ENST00000434603,p.K410N|ENST00000304771,p.K410N|ENST00000526740,p.K81N|uc001owv.3,p.K410N|NM_033063,p.K410N|uc001owu.3,p.K410N	protein_coding, processed_transcript	uc001owv.3	nonsynonymous SNV	exon3	c.A1230C	p.K410N	KDKQAVSGQAAKKKSAEGPSTTKPD	KDKQAVSGQAAKNKSAEGPSTTKPD	2.0	6.0	unscreened	-	3879_11:75316939-75316939 T>G_KDKQAVSGQAAKNKSAEGPSTTKPD
5:101834325-101834325 G>A	0.0	3879	MELANOMA	-	-	-	-	SLCO6A1	ENST00000379810,p.S75F|uc003knn.3,p.S75F|NM_001289002,p.S75F|uc003kno.3,p.S75F|ENST00000389019,p.S75F|ENST00000506729,p.S75F|uc003knq.3,p.S75F|NM_173488,p.S75F|ENST00000379807,p.S75F|uc003knp.3,p.S75F|ENST00000513675,p.S75F|NM_001289004,p.S75F	retained_intron, protein_coding, processed_transcript	uc003knq.3	nonsynonymous SNV	exon1	c.C224T	p.S75F	GFRKRKKAKSSVSKKPGEVDDSLEQ	GFRKRKKAKSSVFKKPGEVDDSLEQ	1.0	4.0	unscreened	-	3879_5:101834325-101834325 G>A_GFRKRKKAKSSVFKKPGEVDDSLEQ
12:8673811-8673811 C>T	0.0	3879	MELANOMA	-	-	-	-	CLEC4D	NM_080387,p.P198S|uc001qun.3,p.P198S|ENST00000299665,p.P198S	protein_coding	uc001qun.3	nonsynonymous SNV	exon6	c.C592T	p.P198S	VYNQDKWAWNDVPCNFEASRICKIP	VYNQDKWAWNDVSCNFEASRICKIP	1.0	6.0	unscreened	-	3879_12:8673811-8673811 C>T_VYNQDKWAWNDVSCNFEASRICKIP
5:95757591-95757591 C>T	0.0	3879	MELANOMA	-	-	-	-	PCSK1	uc003kls.2,p.E205K|NM_000439,p.E205K|ENST00000311106,p.E205K|uc021ybq.1,p.E158K|ENST00000508626,p.E158K|NM_001177875,p.E158K	protein_coding, processed_transcript	uc021ybq.1	nonsynonymous SNV	exon5	c.G472A	p.E158K	DHDPFPRYDPTNENKHGTRCAGEIA	DHDPFPRYDPTNKNKHGTRCAGEIA	3.0	7.0	unscreened	-	3879_5:95757591-95757591 C>T_DHDPFPRYDPTNKNKHGTRCAGEIA
19:56423504-56423504 G>A	0.0	3879	MELANOMA	-	-	-	-	NLRP13	ENST00000588751,p.S560F|uc010ygg.2,p.S560F|NM_176810,p.S560F|ENST00000342929,p.S560F	protein_coding	uc010ygg.2	nonsynonymous SNV	exon5	c.C1679T	p.S560F	FVLEEPREFPPHSTKPQEMKMLLQH	FVLEEPREFPPHFTKPQEMKMLLQH	1.0	6.0	unscreened	-	3879_19:56423504-56423504 G>A_FVLEEPREFPPHFTKPQEMKMLLQH
2:179482511-179482511 G>A	0.0	3879	MELANOMA	-	-	-	-	TTN	ENST00000342992,p.P13288L|uc031rqd.1,p.P14215L|NM_001267550,p.P15856L|uc021vta.2,p.P6916L|NM_001256850,p.P14215L|ENST00000589042,p.P15856L|NM_133378,p.P13288L|uc021vsz.2,p.P6983L|uc021vsy.2,p.P13288L|ENST00000460472,p.P6791L|ENST00000359218,p.P6916L|uc031rqc.1,p.P15856L|uc021vtb.2,p.P6791L|NM_003319,p.P6791L|ENST00000342175,p.P6983L|ENST00000591111,p.P14215L|NM_133432,p.P6916L|NM_133437,p.P6983L	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon203	c.C42644T	p.P14215L	PSAATPFVKVADPIERPSPPVNLTS	PSAATPFVKVADLIERPSPPVNLTS	1.0	5.0	unscreened	-	3879_2:179482511-179482511 G>A_PSAATPFVKVADLIERPSPPVNLTS
19:14269259-14269259 C>T	1.0	3879	MELANOMA	-	-	-	-	LPHN1	ENST00000361434,p.G752E|uc010xno.2,p.G752E|ENST00000340736,p.G757E|uc010xnn.2,p.G757E|NM_014921,p.G752E|NM_001008701,p.G757E	retained_intron, protein_coding, processed_transcript	uc010xno.2	nonsynonymous SNV	exon12	c.G2255A	p.G752E	VKLAGEAGPGGPGGASLVVNSQVIA	VKLAGEAGPGGPEGASLVVNSQVIA	5.0	5.0	-	-	3879_19:14269259-14269259 C>T_VKLAGEAGPGGPEGASLVVNSQVIA
5:121761076-121761076 A>C	0.0	3879	MELANOMA	-	-	-	-	SNCAIP	ENST00000395469,p.K391N|ENST00000261368,p.K344N|ENST00000379533,p.K391N|ENST00000503116,p.K391N|ENST00000261367,p.K391N|NM_005460,p.K344N|uc010jct.3,p.K344N|uc003ksw.1,p.K344N|uc003ksx.1,p.K391N	retained_intron, protein_coding, nonsense_mediated_decay	uc010jct.3	nonsynonymous SNV	exon5	c.A1032C	p.K344N	SLLPHLAADNLDKIHDENGNNLLHI	SLLPHLAADNLDNIHDENGNNLLHI	1.0	4.0	unscreened	-	3879_5:121761076-121761076 A>C_SLLPHLAADNLDNIHDENGNNLLHI
5:121761076-121761076 A>C	0.0	3879	MELANOMA	-	-	-	-	SNCAIP	uc010jcw.1,p.K38N	retained_intron, protein_coding, nonsense_mediated_decay	uc010jcw.1	nonsynonymous SNV	exon3	c.A114C	p.K38N	TDQPHLAADNLDKIHDENGNNLLHI	TDQPHLAADNLDNIHDENGNNLLHI	1.0	4.0	unscreened	-	3879_5:121761076-121761076 A>C_TDQPHLAADNLDNIHDENGNNLLHI
6:127517122-127517122 G>T	0.0	3879	MELANOMA	-	-	-	1	RSPO3	ENST00000356698,p.Q263H|NM_032784,p.Q263H|uc003qar.3,p.Q263H	protein_coding, processed_transcript	uc003qar.3	nonsynonymous SNV	exon5	c.G789T	p.Q263H	KQQQKKRKVQDKQKSVSVSTVH	KQQQKKRKVQDKHKSVSVSTVH	1.0	4.0	unscreened	-	3879_6:127517122-127517122 G>T_KQQQKKRKVQDKHKSVSVSTVH
12:55356867-55356867 C>T	0.0	3879	MELANOMA	-	-	-	-	TESPA1	ENST00000532804,p.R134Q|NM_001136030,p.R272Q|uc010spb.2,p.R19Q|uc010spc.2,p.R134Q|ENST00000449076,p.R272Q|NM_001261844,p.R134Q|NM_001098815,p.R272Q|ENST00000316577,p.R272Q|NM_014796,p.R134Q|ENST00000524622,p.R134Q|uc001sgn.4,p.R272Q|uc010spd.2,p.R272Q|uc001sgm.4,p.R19Q|uc001sgl.4,p.R134Q|ENST00000531122,p.R134Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc010spd.2	nonsynonymous SNV	exon9	c.G815A	p.R272Q	HPTDVPSIRILSREPEPQSPRDRLR	HPTDVPSIRILSQEPEPQSPRDRLR	1.0	4.0	unscreened	-	3879_12:55356867-55356867 C>T_HPTDVPSIRILSQEPEPQSPRDRLR
12:13716751-13716751 C>T	0.0	3879	MELANOMA	-	-	ID=COSM1686170;OCCURENCE=2(skin)	-	GRIN2B	NM_000834,p.E1141K|ENST00000279593,p.E1141K|uc001rbt.2,p.E1141K	protein_coding	uc001rbt.2	nonsynonymous SNV	exon13	c.G3421A	p.E1141K	LRDFYLDQFRTKENSPHWEHVDLTD	LRDFYLDQFRTKKNSPHWEHVDLTD	1.0	6.0	unscreened	-	3879_12:13716751-13716751 C>T_LRDFYLDQFRTKKNSPHWEHVDLTD
12:22065838-22065838 C>T	0.0	3879	MELANOMA	-	-	-	-	ABCC9	uc001rfh.3,p.E327K|ENST00000345162,p.E327K|ENST00000261200,p.E327K|ENST00000261201,p.E327K|NM_020297,p.E327K|uc001rfi.1,p.E327K|NM_005691,p.E327K	protein_coding	uc001rfi.1	nonsynonymous SNV	exon6	c.G979A	p.E327K	PLCISGIVQRVNETQNGTNNTTGIS	PLCISGIVQRVNKTQNGTNNTTGIS	5.0	6.0	unscreened	-	3879_12:22065838-22065838 C>T_PLCISGIVQRVNKTQNGTNNTTGIS
1:157489539-157489539 G>A	0.0	3879	MELANOMA	-	-	-	-	FCRL5	uc009wsm.3,p.P885L|ENST00000361835,p.P885L|NM_001195388,p.P885L|ENST00000356953,p.P885L|uc001fqu.3,p.P885L|NM_031281,p.P885L	protein_coding, processed_transcript	uc009wsm.3	nonsynonymous SNV	exon13	c.C2654T	p.P885L	LSRKAGRKPASDPARSPSDSDSQEP	LSRKAGRKPASDLARSPSDSDSQEP	1.0	7.0	unscreened	-	3879_1:157489539-157489539 G>A_LSRKAGRKPASDLARSPSDSDSQEP
14:81046741-81046741 C>T	0.0	3879	MELANOMA	-	-	-	-	CEP128	uc001xux.2,p.D945N|ENST00000555265,p.D945N|ENST00000281129,p.D945N|uc031qpo.1,p.D972N|NM_152446,p.D945N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qpo.1	nonsynonymous SNV	exon21	c.G2914A	p.D972N	EKRDLLEETQRKDEEMGSLQDRVIA	EKRDLLEETQRKNEEMGSLQDRVIA	4.0	6.0	unscreened	-	3879_14:81046741-81046741 C>T_EKRDLLEETQRKNEEMGSLQDRVIA
5:178541179-178541179 G>A	0.0	3879	MELANOMA	-	-	-	-	ADAMTS2	uc003mjw.3,p.P1109S|NM_014244,p.P1109S|ENST00000251582,p.P1109S	retained_intron, protein_coding	uc003mjw.3	nonsynonymous SNV	exon22	c.C3325T	p.P1109S	NNLTNVEGRIEPPPGKHNDIDVFMP	NNLTNVEGRIEPSPGKHNDIDVFMP	2.0	5.0	unscreened	-	3879_5:178541179-178541179 G>A_NNLTNVEGRIEPSPGKHNDIDVFMP
12:51685932-51685932 C>T	0.0	3879	MELANOMA	-	-	-	-	BIN2	NM_016293,p.E352K|uc009zlz.3,p.E288K|uc001ryg.3,p.E320K|NM_001290009,p.E196K|NM_001290008,p.E320K|NM_001290007,p.E294K|ENST00000604560,p.E293K|ENST00000267012,p.E320K|uc001ryh.3,p.E196K|ENST00000544402,p.E294K|uc010sng.2,p.E294K|ENST00000452142,p.E288K	protein_coding	uc010sng.2	nonsynonymous SNV	exon10	c.G880A	p.E294K	DNSEIKELLEEEEIEKEGSEASSSE	DNSEIKELLEEEKIEKEGSEASSSE	2.0	5.0	unscreened	-	3879_12:51685932-51685932 C>T_DNSEIKELLEEEKIEKEGSEASSSE
5:121761076-121761076 A>C	0.0	3879	MELANOMA	-	-	-	-	SNCAIP	ENST00000504884,p.N54H|ENST00000395466,p.N54H	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000504884	nonsynonymous SNV	exon3	c.A160C	p.N54H	RSATPSCRQSRQNSRRKWKQSITYC	RSATPSCRQSRQHSRRKWKQSITYC	1.0	4.0	unscreened	-	3879_5:121761076-121761076 A>C_RSATPSCRQSRQHSRRKWKQSITYC
4:100515890-100515890 G>C	0.0	3879	MELANOMA	-	-	-	-	MTTP	ENST00000457717,p.K253N|NM_001300785,p.K280N|ENST00000511045,p.K280N|uc003hvc.4,p.K253N|ENST00000265517,p.K253N|NM_000253,p.K253N|uc011cej.2,p.K280N	protein_coding, nonsense_mediated_decay	uc011cej.2	nonsynonymous SNV	exon7	c.G840C	p.K280N	NFLQTIKGKIVSKQKLELKTTEAGP	NFLQTIKGKIVSNQKLELKTTEAGP	1.0	4.0	unscreened	-	3879_4:100515890-100515890 G>C_NFLQTIKGKIVSNQKLELKTTEAGP
16:49411676-49411676 G>A	0.0	3879	MELANOMA	-	-	-	-	C16orf78	ENST00000299191,p.R62Q|uc002efr.3,p.R62Q|NM_144602,p.R62Q	protein_coding	uc002efr.3	nonsynonymous SNV	exon2	c.G185A	p.R62Q	EKQKPKVVTVLKRNKKKEEKKGKGL	EKQKPKVVTVLKQNKKKEEKKGKGL	1.0	7.0	unscreened	-	3879_16:49411676-49411676 G>A_EKQKPKVVTVLKQNKKKEEKKGKGL
2:196774870-196774870 G>A	0.0	3879	MELANOMA	-	-	-	-	DNAH7	uc002utj.4,p.P1329S|NM_018897,p.P1329S|ENST00000312428,p.P1329S	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon25	c.C3985T	p.P1329S	ALHLHLGGAPEGPAGTGKTETTKDL	ALHLHLGGAPEGSAGTGKTETTKDL	1.0	4.0	unscreened	-	3879_2:196774870-196774870 G>A_ALHLHLGGAPEGSAGTGKTETTKDL
12:7805321-7805321 C>T	0.0	3879	MELANOMA	-	-	-	-	APOBEC1	NM_001644,p.R52Q|uc001qtb.3,p.R52Q|ENST00000229304,p.R52Q	protein_coding, nonsense_mediated_decay	uc001qtb.3	nonsynonymous SNV	exon3	c.G155A	p.R52Q	YEIKWGMSRKIWRSSGKNTTNHVEV	YEIKWGMSRKIWQSSGKNTTNHVEV	1.0	6.0	unscreened	-	3879_12:7805321-7805321 C>T_YEIKWGMSRKIWQSSGKNTTNHVEV
5:178408678-178408678 C>T	0.0	3879	MELANOMA	-	-	-	-	GRM6	ENST00000231188,p.D872N|ENST00000517717,p.D872N|NM_000843,p.D872N|uc003mjr.3,p.D872N|uc003mjq.3,p.D275N	retained_intron, protein_coding, processed_transcript	uc003mjr.3	nonsynonymous SNV	exon10	c.G2614A	p.D872N	ATSTVAAPPKGEDAEAHK	ATSTVAAPPKGENAEAHK	1.0	4.0	unscreened	-	3879_5:178408678-178408678 C>T_ATSTVAAPPKGENAEAHK
5:121787096-121787096 G>A	0.0	3879	MELANOMA	-	-	ID=COSM3428870,COSM3428869;OCCURENCE=1(large_intestine)	-	SNCAIP	ENST00000379536,p.E792K|NM_005460,p.E852K|ENST00000261367,p.E899K|uc003ksw.1,p.E852K|uc003ksx.1,p.E899K|uc003ktc.1,p.E368K|ENST00000542191,p.E410K|uc010jcu.2,p.E448K|uc003ksz.1,p.E486K|ENST00000261368,p.E852K|ENST00000379533,p.E899K|ENST00000414317,p.E454K|uc003ksy.1,p.E486K|uc010jcx.1,p.E792K|uc003kta.1,p.E484K|uc011cwl.1,p.E410K|NM_001242935,p.E486K|ENST00000379538,p.E486K|uc011cwm.1,p.E486K|ENST00000509154,p.E792K|uc010jcw.1,p.E546K	retained_intron, protein_coding, nonsense_mediated_decay	uc011cwm.1	nonsynonymous SNV	exon8	c.G1456A	p.E486K	KGRTLQRTSTSNESGDQLKRPFGAF	KGRTLQRTSTSNKSGDQLKRPFGAF	1.0	5.0	unscreened	-	3879_5:121787096-121787096 G>A_KGRTLQRTSTSNKSGDQLKRPFGAF
1:75037451-75037451 C>T	0.0	3879	MELANOMA	-	-	-	-	ERICH3	NM_001002912,p.E1315K|uc001dgg.3,p.E1315K|ENST00000326665,p.E1315K	protein_coding, processed_transcript	uc001dgg.3	nonsynonymous SNV	exon14	c.G3943A	p.E1315K	TLETEAMQDRNSEGDGDMEGEGNTQ	TLETEAMQDRNSKGDGDMEGEGNTQ	1.0	6.0	unscreened	-	3879_1:75037451-75037451 C>T_TLETEAMQDRNSKGDGDMEGEGNTQ
22:30886105-30886105 G>A	0.0	3879	MELANOMA	-	-	-	-	SEC14L4	NM_174977,p.P404S|uc003aid.2,p.P404S|ENST00000255858,p.P404S|ENST00000540456,p.P389S|uc003aie.2,p.P389S	protein_coding, nonsense_mediated_decay	uc003aie.2	nonsynonymous SNV	exon13	c.C1165T	p.P389S	ETLQSLKAMRPSPTQ	ETLQSLKAMRPSSTQ	1.0	6.0	unscreened	-	3879_22:30886105-30886105 G>A_ETLQSLKAMRPSSTQ
2:119735083-119735083 G>A	0.0	3879	MELANOMA	-	-	-	-	MARCO	uc002tln.1,p.G217E|uc010yyf.1,p.G139E|ENST00000327097,p.G217E|ENST00000541757,p.G139E|NM_006770,p.G217E	retained_intron, protein_coding	uc010yyf.1	nonsynonymous SNV	exon8	c.G416A	p.G139E	GLQGPQGAPGKQGATGTPGPQGEKG	GLQGPQGAPGKQEATGTPGPQGEKG	1.0	5.0	unscreened	-	3879_2:119735083-119735083 G>A_GLQGPQGAPGKQEATGTPGPQGEKG
5:121761077-121761077 A>G	0.0	3879	MELANOMA	-	-	-	-	SNCAIP	ENST00000395466,p.N54S|ENST00000504884,p.N54S	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000504884	nonsynonymous SNV	exon3	c.A161G	p.N54S	RSATPSCRQSRQNSRRKWKQSITYC	RSATPSCRQSRQSSRRKWKQSITYC	1.0	4.0	unscreened	-	3879_5:121761077-121761077 A>G_RSATPSCRQSRQSSRRKWKQSITYC
1:57395118-57395118 G>A	0.0	3879	MELANOMA	-	-	-	-	C8B	ENST00000371237,p.P579S|ENST00000535057,p.P517S|NM_000066,p.P579S|uc010oon.2,p.P517S|uc010ooo.2,p.P527S|NM_001278544,p.P517S|NM_001278543,p.P527S|uc001cyp.3,p.P579S|ENST00000543257,p.P527S	retained_intron, protein_coding, processed_transcript	uc010ooo.2	nonsynonymous SNV	exon13	c.C1579T	p.P527S	QCNNPPPQNGGSPCSGPASETLDCS	QCNNPPPQNGGSSCSGPASETLDCS	1.0	6.0	unscreened	-	3879_1:57395118-57395118 G>A_QCNNPPPQNGGSSCSGPASETLDCS
14:52794012-52794012 T>-	0.0	3879	MELANOMA	-	-	-	-	PTGER2	ENST00000557436,p.I51fs|ENST00000245457,p.I306fs|NM_000956,p.I306fs|uc001wzr.3,p.I306fs	protein_coding	uc001wzr.3	frameshift deletion	exon2	c.917delT	p.I306fs	EKWDLQALRFLSINSIIDPWVFAIL	EKWDLQALRFLSIIQ	1.0	4.0	unscreened	-	3879_14:52794012-52794012 T>-_EKWDLQALRFLSIIQ
12:21918665-21918665 C>T	0.0	3879	MELANOMA	-	-	-	-	KCNJ8	ENST00000240662,p.E423K|uc001rff.4,p.E423K|NM_004982,p.E423K	protein_coding	uc001rff.4	nonsynonymous SNV	exon3	c.G1267A	p.E423K	QFMTPEGNQNTSES	QFMTPEGNQNTSKS	3.0	4.0	unscreened	-	3879_12:21918665-21918665 C>T_QFMTPEGNQNTSKS
10:70765618-70765618 C>T	1.0	3903	MELANOMA	-	-	-	-	KIAA1279	ENST00000361983,p.P246S|NM_015634,p.P246S|uc001joy.3,p.P246S	protein_coding, processed_transcript	uc001joy.3	nonsynonymous SNV	exon4	c.C736T	p.P246S	TLKRQLEHNAYHPIEWAINAATLSQ	TLKRQLEHNAYHSIEWAINAATLSQ	7.0	10.0	CD8	-	3903_10:70765618-70765618 C>T_TLKRQLEHNAYHSIEWAINAATLSQ
8:22470624-22470624 C>T	1.0	3903	MELANOMA	-	-	-	-	CCAR2	uc003xch.3,p.H227Y|ENST00000308511,p.H227Y|uc003xci.3,p.H227Y|ENST00000522599,p.H45Y|ENST00000389279,p.H227Y|NM_021174,p.H227Y	retained_intron, protein_coding	uc003xci.3	nonsynonymous SNV	exon8	c.C679T	p.H227Y	KKPRHDLPPYRVHLTPYTVDSPICD	KKPRHDLPPYRVYLTPYTVDSPICD	10.0	6.0	CD8	-	3903_8:22470624-22470624 C>T_KKPRHDLPPYRVYLTPYTVDSPICD
X:71932757-71932757 G>A	1.0	3903	MELANOMA	-	-	-	-	PHKA1	uc004eax.4,p.P34L|ENST00000541944,p.P34L|uc011mqi.2,p.P34L|ENST00000373542,p.P34L|NM_001172436,p.P34L|ENST00000339490,p.P34L|uc004eay.4,p.P34L|ENST00000373545,p.P34L|NM_002637,p.P34L|ENST00000373539,p.P34L|NM_001122670,p.P34L	protein_coding	uc011mqi.2	nonsynonymous SNV	exon2	c.C101T	p.P34L	ILCHQNPVTGLLPASYDQKDAWVRD	ILCHQNPVTGLLLASYDQKDAWVRD	5.0	10.0	CD8	-	3903_X:71932757-71932757 G>A_ILCHQNPVTGLLLASYDQKDAWVRD
16:4164570-4164570 G>A	1.0	3903	MELANOMA	-	-	-	-	ADCY9	uc002cvx.3,p.H292Y|NM_001116,p.H292Y|ENST00000294016,p.H292Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002cvx.3	nonsynonymous SNV	exon2	c.C874T	p.H292Y	ELLSRGLLHGCIHAIGVHLFVMSQV	ELLSRGLLHGCIYAIGVHLFVMSQV	7.0	7.0	-	-	3903_16:4164570-4164570 G>A_ELLSRGLLHGCIYAIGVHLFVMSQV
22:42609912-42609912 G>A	1.0	3903	MELANOMA	-	-	-	-	TCF20	NM_181492,p.P467L|NM_005650,p.P467L|uc003bck.1,p.P467L|ENST00000359486,p.P467L|ENST00000335626,p.P467L|uc003bcj.1,p.P467L	protein_coding	uc003bck.1	nonsynonymous SNV	exon1	c.C1400T	p.P467L	SLSALSTQVANLPNTVQHMLLSDAL	SLSALSTQVANLLNTVQHMLLSDAL	7.0	7.0	-	-	3903_22:42609912-42609912 G>A_SLSALSTQVANLLNTVQHMLLSDAL
5:75991420-75991420 C>T	1.0	3903	MELANOMA	0.02	-	-	-	IQGAP2	ENST00000502745,p.R875W|uc003kel.3,p.R875W|uc011csv.2,p.R875W|uc003kek.3,p.R1379W|NM_001285461,p.R875W|ENST00000505766,p.R1329W|NM_006633,p.R1379W|ENST00000274364,p.R1379W|NM_001285460,p.R1329W|uc010izw.1,p.R80W|ENST00000379730,p.R881W|NM_001285462,p.R875W|ENST00000396234,p.R875W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011csv.2	nonsynonymous SNV	exon20	c.C2623T	p.R875W	LEQKKRKIQRNLRTLEQTGHVSSEN	LEQKKRKIQRNLWTLEQTGHVSSEN	9.0	3.0	unscreened	-	3903_5:75991420-75991420 C>T_LEQKKRKIQRNLWTLEQTGHVSSEN
3:194371732-194371732 G>A	1.0	3903	MELANOMA	-	-	-	-	LSG1	uc003fui.3,p.L433F|NM_018385,p.L433F|ENST00000265245,p.L433F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003fui.3	nonsynonymous SNV	exon10	c.C1297T	p.L433F	TKHFQTLYVEPGLCLCDCPGLVMPS	TKHFQTLYVEPGFCLCDCPGLVMPS	9.0	8.0	-	-	3903_3:194371732-194371732 G>A_TKHFQTLYVEPGFCLCDCPGLVMPS
2:219514078-219514078 G>A	1.0	3903	MELANOMA	-	-	-	-	ZNF142	uc002vil.3,p.H146Y|NM_001105537,p.H185Y|uc002vin.4,p.H185Y|ENST00000449707,p.H185Y|uc010fvt.4,p.H22Y|ENST00000411696,p.H185Y|uc002vim.4,p.H22Y	protein_coding, nonsense_mediated_decay	uc010fvt.4	nonsynonymous SNV	exon7	c.C64T	p.H22Y	KKRTHLVEHLHLHFPDPSLQCPNCQ	KKRTHLVEHLHLYFPDPSLQCPNCQ	7.0	9.0	-	-	3903_2:219514078-219514078 G>A_KKRTHLVEHLHLYFPDPSLQCPNCQ
20:1145027-1145027 C>T	1.0	3903	MELANOMA	-	-	-	-	PSMF1	uc010zpo.2,p.P136L|ENST00000335877,p.P224L|ENST00000438768,p.P162L|ENST00000381898,p.P136L|ENST00000333082,p.P224L|uc002wel.4,p.P224L|NM_178578,p.P224L|ENST00000246015,p.P224L|uc010zpp.2,p.P162L|NM_006814,p.P224L|uc002wen.4,p.P224L|uc002wep.4,p.P175L	protein_coding, processed_transcript	uc010zpp.2	nonsynonymous SNV	exon5	c.C485T	p.P162L	PLRSGFPRALIDPSSGLPNRLPPGA	PLRSGFPRALIDLSSGLPNRLPPGA	10.0	6.0	-	-	3903_20:1145027-1145027 C>T_PLRSGFPRALIDLSSGLPNRLPPGA
19:40964133-40964133 G>A	1.0	3903	MELANOMA	-	-	-	-	BLVRB	uc002onw.2,p.S88F|ENST00000595483,p.S88F|ENST00000597870,p.S88F|NM_000713,p.S88F|ENST00000263368,p.S88F	retained_intron, protein_coding, nonsense_mediated_decay	uc002onw.2	nonsynonymous SNV	exon3	c.C263T	p.S88F	GTRNDLSPTTVMSEGARNIVAAMKA	GTRNDLSPTTVMFEGARNIVAAMKA	10.0	5.0	-	-	3903_19:40964133-40964133 G>A_GTRNDLSPTTVMFEGARNIVAAMKA
13:99460004-99460004 G>A	1.0	3903	MELANOMA	-	-	-	-	DOCK9	uc001vnq.2,p.P371S|uc001vns.2,p.P359S|uc010tin.1,p.P442S|ENST00000339416,p.P1810S|uc021rlw.1,p.P1823S|uc001vnr.2,p.P453S|ENST00000451563,p.P174S|uc010tio.1,p.P479S|ENST00000376460,p.P1823S|uc010tip.1,p.P520S	protein_coding, processed_transcript	uc021rlw.1	nonsynonymous SNV	exon51	c.C5467T	p.P1823S	GKEYIYKEPKLTPLSEISQRLLKLY	GKEYIYKEPKLTSLSEISQRLLKLY	7.0	7.0	-	-	3903_13:99460004-99460004 G>A_GKEYIYKEPKLTSLSEISQRLLKLY
10:11504867-11504867 C>T	1.0	3903	MELANOMA	-	-	-	-	USP6NL	uc001ikt.3,p.R687H|NM_001080491,p.R704H|ENST00000277575,p.R704H|NM_014688,p.R687H|ENST00000379237,p.R687H|uc001iks.1,p.R704H	protein_coding	uc001ikt.3	nonsynonymous SNV	exon15	c.G2060A	p.R687H	LSVSASPEKSYSRPSPLVLPSSRIE	LSVSASPEKSYSHPSPLVLPSSRIE	7.0	6.0	-	-	3903_10:11504867-11504867 C>T_LSVSASPEKSYSHPSPLVLPSSRIE
15:101120911-101120911 G>A	1.0	3903	MELANOMA	-	-	ID=COSM1719370;OCCURENCE=2(NS)	-	LINS	ENST00000561308,p.S46F|ENST00000559577,p.S46F|NM_001040616,p.S46F|ENST00000560272,p.S46F|uc002bwi.3,p.S46F|ENST00000559736,p.S46F|uc002bwg.3,p.S46F|ENST00000560934,p.S46F|ENST00000314742,p.S46F	retained_intron, protein_coding, processed_transcript	uc002bwi.3	nonsynonymous SNV	exon2	c.C137T	p.S46F	PAVSDQDCSTATSLEWANTCGIQGR	PAVSDQDCSTATFLEWANTCGIQGR	8.0	4.0	-	-	3903_15:101120911-101120911 G>A_PAVSDQDCSTATFLEWANTCGIQGR
10:43655973-43655973 C>T	1.0	3903	MELANOMA	-	-	-	-	CSGALNACT2	ENST00000374466,p.H304Y|NM_018590,p.H304Y|ENST00000374464,p.H304Y|uc001jam.2,p.H304Y|uc001jan.4,p.H304Y	protein_coding	uc001jan.4	nonsynonymous SNV	exon4	c.C910T	p.H304Y	FRDVCIHQDKKIHLTVVYFGKEGLS	FRDVCIHQDKKIYLTVVYFGKEGLS	6.0	9.0	-	-	3903_10:43655973-43655973 C>T_FRDVCIHQDKKIYLTVVYFGKEGLS
8:19276184-19276184 G>A	1.0	3903	MELANOMA	-	-	-	-	CSGALNACT1	NM_001130518,p.P404S|uc011kyn.2,p.P404S|ENST00000454498,p.P404S|ENST00000332246,p.P404S|ENST00000311540,p.P404S|ENST00000522854,p.P404S|uc011kyo.2,p.P404S|NM_018371,p.P404S|uc011kyp.2,p.P404S|ENST00000544602,p.P404S	protein_coding, processed_transcript, nonsense_mediated_decay	uc011kyp.2	nonsynonymous SNV	exon7	c.C1210T	p.P404S	PGIIYGHHDAVPPLEQQLVIKKETG	PGIIYGHHDAVPSLEQQLVIKKETG	9.0	8.0	-	-	3903_8:19276184-19276184 G>A_PGIIYGHHDAVPSLEQQLVIKKETG
22:38696035-38696035 A>G	1.0	3903	MELANOMA	-	-	-	-	CSNK1E	ENST00000430335,p.Y201H|uc003avm.2,p.Y201H|ENST00000403904,p.Y201H|ENST00000400206,p.Y201H|uc003avk.3,p.Y201H|NM_001894,p.Y201H|NM_152221,p.Y201H|NM_001289912,p.Y201H|ENST00000413574,p.Y201H|ENST00000396832,p.Y201H|uc003avj.3,p.Y201H|ENST00000359867,p.Y201H|ENST00000405675,p.Y201H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003avm.2	nonsynonymous SNV	exon10	c.T601C	p.Y201H	EQSRRDDLESLGYVLMYFNLGSLPW	EQSRRDDLESLGHVLMYFNLGSLPW	10.0	8.0	-	-	3903_22:38696035-38696035 A>G_EQSRRDDLESLGHVLMYFNLGSLPW
12:72290457-72290457 G>A	1.0	3903	MELANOMA	-	-	-	-	TBC1D15	ENST00000485960,p.G329R|uc009zrv.2,p.G230R|ENST00000550746,p.G346R|ENST00000393309,p.G100R|ENST00000319106,p.G337R|uc010stt.2,p.G337R|uc001sww.3,p.G100R|ENST00000491063,p.G230R|uc001swv.3,p.G329R|NM_001146214,p.G337R|NM_022771,p.G346R|NM_001146213,p.G329R|uc001swu.3,p.G346R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010stt.2	nonsynonymous SNV	exon10	c.G1009A	p.G337R	NVDNMKQMIFRGGLSHALRKQAWKF	NVDNMKQMIFRGRLSHALRKQAWKF	8.0	8.0	-	-	3903_12:72290457-72290457 G>A_NVDNMKQMIFRGRLSHALRKQAWKF
9:131107810-131107810 G>A	1.0	3903	MELANOMA	-	-	-	-	SLC27A4	ENST00000300456,p.G180S|NM_005094,p.G180S|uc004but.3,p.G180S	protein_coding	uc004but.3	nonsynonymous SNV	exon3	c.G538A	p.G180S	CLTTSRARALVFGSEMASAICEVHA	CLTTSRARALVFSSEMASAICEVHA	9.0	10.0	-	-	3903_9:131107810-131107810 G>A_CLTTSRARALVFSSEMASAICEVHA
8:120940812-120940812 C>T	1.0	3903	MELANOMA	-	-	-	-	DEPTOR	ENST00000286234,p.H99Y|NM_022783,p.H99Y|uc003yow.4,p.H99Y	protein_coding, processed_transcript	uc003yow.4	nonsynonymous SNV	exon2	c.C295T	p.H99Y	KLMQKLADRGIIHHVCDEHKEFKDV	KLMQKLADRGIIYHVCDEHKEFKDV	7.0	8.0	-	-	3903_8:120940812-120940812 C>T_KLMQKLADRGIIYHVCDEHKEFKDV
7:47408111-47408111 G>A	1.0	3903	MELANOMA	-	-	-	-	TNS3	NM_022748,p.P711L|uc003tnw.3,p.P711L|ENST00000355730,p.P471L|ENST00000311160,p.P711L|uc022acn.1,p.P268L|ENST00000457718,p.P814L|ENST00000398879,p.P711L	retained_intron, protein_coding, processed_transcript	uc022acn.1	nonsynonymous SNV	exon1	c.C803T	p.P268L	IEQLNRLILELDPTFEPIPTHMNAL	IEQLNRLILELDLTFEPIPTHMNAL	10.0	5.0	-	-	3903_7:47408111-47408111 G>A_IEQLNRLILELDLTFEPIPTHMNAL
2:240003853-240003853 G>A	1.0	3903	MELANOMA	-	-	-	-	HDAC4	uc010fyy.3,p.S818F|uc002vyk.4,p.S861F|NM_006037,p.S861F|ENST00000345617,p.S861F|ENST00000543185,p.S445F	retained_intron, protein_coding, processed_transcript	uc010fyy.3	nonsynonymous SNV	exon18	c.C2453T	p.S818F	QAFYSDPSVLYMSLHRYDDGNFFPG	QAFYSDPSVLYMFLHRYDDGNFFPG	7.0	9.0	-	-	3903_2:240003853-240003853 G>A_QAFYSDPSVLYMFLHRYDDGNFFPG
12:121154742-121154742 A>C	1.0	3903	MELANOMA	-	-	-	-	UNC119B	ENST00000344651,p.E180D|uc001tyz.4,p.E180D|NM_001080533,p.E180D	protein_coding, processed_transcript	uc001tyz.4	nonsynonymous SNV	exon4	c.A540C	p.E180D	SNFRMIERHYFREHLLKNFDFDFGF	SNFRMIERHYFRDHLLKNFDFDFGF	8.0	2.0	unscreened	-	3903_12:121154742-121154742 A>C_SNFRMIERHYFRDHLLKNFDFDFGF
9:100190923-100190923 T>G	1.0	3903	MELANOMA	-	-	-	-	TDRD7	NM_014290,p.V59G|uc004axj.3,p.V59G|ENST00000355295,p.V59G	protein_coding, processed_transcript	uc004axj.3	nonsynonymous SNV	exon2	c.T176G	p.V59G	PTLEAYLRSVPAVVRIETSRSGEIT	PTLEAYLRSVPAGVRIETSRSGEIT	9.0	10.0	-	-	3903_9:100190923-100190923 T>G_PTLEAYLRSVPAGVRIETSRSGEIT
2:241468538-241468538 G>A	1.0	3903	MELANOMA	-	-	ID=COSM1692250;OCCURENCE=1(skin)	-	ANKMY1	ENST00000418708,p.P201L|NM_001282771,p.P290L|uc002vyz.1,p.P201L|ENST00000391987,p.P201L|ENST00000401804,p.P290L|ENST00000272972,p.P201L|NM_016552,p.P201L|uc010fzd.1,p.P290L	retained_intron, protein_coding, processed_transcript	uc010fzd.1	nonsynonymous SNV	exon5	c.C869T	p.P290L	ELDARIFLNEIPPFVEDGEPWFIIN	ELDARIFLNEIPLFVEDGEPWFIIN	7.0	8.0	-	-	3903_2:241468538-241468538 G>A_ELDARIFLNEIPLFVEDGEPWFIIN
20:42088473-42088473 C>T	1.0	3903	MELANOMA	-	-	ID=COSM1026960;OCCURENCE=1(endometrium)	-	SRSF6	uc010zwg.2,p.R107C|ENST00000244020,p.R107C|NM_006275,p.R107C	protein_coding, nonsense_mediated_decay	uc010zwg.2	nonsynonymous SNV	exon3	c.C319T	p.R107C	RTSGRDKYGPPVRTEYRLIVENLSS	RTSGRDKYGPPVCTEYRLIVENLSS	10.0	6.0	unscreened	-	3903_20:42088473-42088473 C>T_RTSGRDKYGPPVCTEYRLIVENLSS
17:48435648-48435648 C>T	1.0	3903	MELANOMA	-	-	-	-	XYLT2	ENST00000376550,p.P609L	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000376550	nonsynonymous SNV	exon9	c.C1826T	p.P609L	LGGYWGRWTSLWPCSAGPGAPTSQP	LGGYWGRWTSLWLCSAGPGAPTSQP	6.0	6.0	unscreened	-	3903_17:48435648-48435648 C>T_LGGYWGRWTSLWLCSAGPGAPTSQP
9:79955378-79955378 C>T	1.0	3903	MELANOMA	-	-	-	-	VPS13A	ENST00000376634,p.P2313L|ENST00000360280,p.P2313L|NM_001018038,p.P2313L|NM_033305,p.P2313L|uc004akr.3,p.P2313L|uc004akq.4,p.P2313L|ENST00000357409,p.P2313L|uc004akp.4,p.P2313L|NM_001018037,p.P2274L|ENST00000376636,p.P2274L|uc004aks.3,p.P2274L|NM_015186,p.P2313L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004aks.3	nonsynonymous SNV	exon49	c.C6821T	p.P2274L	SSFNITRIVTFTPFYMIKNKSKYHI	SSFNITRIVTFTLFYMIKNKSKYHI	6.0	10.0	-	-	3903_9:79955378-79955378 C>T_SSFNITRIVTFTLFYMIKNKSKYHI
5:141053235-141053235 G>A	1.0	3903	MELANOMA	-	-	-	-	ARAP3	ENST00000239440,p.S280F|uc003lln.3,p.S202F|ENST00000508305,p.S202F|uc003llm.3,p.S280F|ENST00000504448,p.S280F|uc003llo.1,p.S280F|NM_022481,p.S280F	protein_coding, processed_transcript	uc003llo.1	nonsynonymous SNV	exon4	c.C839T	p.S280F	TSDDLISPYASFSFTADRLTPLLSG	TSDDLISPYASFFFTADRLTPLLSG	7.0	5.0	-	-	3903_5:141053235-141053235 G>A_TSDDLISPYASFFFTADRLTPLLSG
3:129286382-129286382 G>A	1.0	3903	MELANOMA	-	-	-	-	PLXND1	uc003emx.2,p.P1347S|NM_015103,p.P1347S|ENST00000324093,p.P1347S|uc011blb.1,p.P15S|ENST00000393239,p.P1347S	retained_intron, protein_coding, nonsense_mediated_decay	uc011blb.1	nonsynonymous SNV	exon1	c.C43T	p.P15S	DLTKELNRSQGIPFLEYKHFVTRTF	DLTKELNRSQGISFLEYKHFVTRTF	10.0	5.0	-	-	3903_3:129286382-129286382 G>A_DLTKELNRSQGISFLEYKHFVTRTF
5:140711128-140711128 C>T	1.0	3903	MELANOMA	-	-	ID=COSM139619,COSM139618;OCCURENCE=5(skin)	-	PCDHGA1	NM_031993,p.R293C|ENST00000378105,p.R293C|uc011dan.2,p.R293C|ENST00000517417,p.R293C|uc003lji.2,p.R293C|NM_018912,p.R293C	protein_coding	uc011dan.2	nonsynonymous SNV	exon1	c.C877T	p.R293C	FHNVDHRVAQIFRLDSYTGEISNKE	FHNVDHRVAQIFCLDSYTGEISNKE	5.0	6.0	-	-	3903_5:140711128-140711128 C>T_FHNVDHRVAQIFCLDSYTGEISNKE
11:792046-792046 G>A	1.0	3903	MELANOMA	-	-	-	-	SLC25A22	ENST00000531214,p.P281S|uc001lrj.3,p.P281S|NM_001191061,p.P281S|uc009yci.3,p.P281S|uc001lri.3,p.P281S|NM_001191060,p.P281S|ENST00000320230,p.P281S|NM_024698,p.P281S	retained_intron, protein_coding, nonsense_mediated_decay	uc009yci.3	nonsynonymous SNV	exon10	c.C841T	p.P281S	LDCARKILRHEGPSAFLKGAYCRAL	LDCARKILRHEGSSAFLKGAYCRAL	9.0	2.0	-	-	3903_11:792046-792046 G>A_LDCARKILRHEGSSAFLKGAYCRAL
4:110687755-110687755 G>A	1.0	3903	MELANOMA	-	-	-	-	CFI	ENST00000394634,p.H95Y|ENST00000512148,p.H95Y|ENST00000394635,p.H95Y|uc003hzr.4,p.H95Y|uc011cft.2,p.H95Y|ENST00000510800,p.H95Y|NM_000204,p.H95Y	retained_intron, protein_coding	uc011cft.2	nonsynonymous SNV	exon2	c.C283T	p.H95Y	PTYCQQKSLECLHPGTKFLNNGTCT	PTYCQQKSLECLYPGTKFLNNGTCT	10.0	8.0	-	-	3903_4:110687755-110687755 G>A_PTYCQQKSLECLYPGTKFLNNGTCT
6:84765113-84765113 G>A	1.0	3903	MELANOMA	-	-	-	-	MRAP2	uc003pkg.4,p.E26K|ENST00000257776,p.E26K|NM_138409,p.E26K	protein_coding	uc003pkg.4	nonsynonymous SNV	exon2	c.G76A	p.E26K	QSASNSDYTWEYEYYEIGPVSFEGL	QSASNSDYTWEYKYYEIGPVSFEGL	5.0	10.0	-	-	3903_6:84765113-84765113 G>A_QSASNSDYTWEYKYYEIGPVSFEGL
12:121154744-121154744 A>C	1.0	3903	MELANOMA	-	-	-	-	UNC119B	uc001tyz.4,p.H181P|ENST00000344651,p.H181P|NM_001080533,p.H181P	protein_coding, processed_transcript	uc001tyz.4	nonsynonymous SNV	exon4	c.A542C	p.H181P	NFRMIERHYFREHLLKNFDFDFGFC	NFRMIERHYFREPLLKNFDFDFGFC	8.0	2.0	unscreened	-	3903_12:121154744-121154744 A>C_NFRMIERHYFREPLLKNFDFDFGFC
16:57007381-57007381 G>A	1.0	3903	MELANOMA	-	-	-	-	CETP	ENST00000200676,p.D297N|uc002eki.2,p.D297N|NM_000078,p.D297N|ENST00000566128,p.D232N	protein_coding, processed_transcript	uc002eki.2	nonsynonymous SNV	exon9	c.G889A	p.D297N	RVFHSLAKVAFQDGRLMLSLMGDEF	RVFHSLAKVAFQNGRLMLSLMGDEF	10.0	7.0	-	-	3903_16:57007381-57007381 G>A_RVFHSLAKVAFQNGRLMLSLMGDEF
15:62327219-62327219 G>A	1.0	3903	MELANOMA	-	-	-	-	VPS13C	uc002ahb.2,p.L74F|NM_018080,p.L74F|uc002agz.3,p.L74F|NM_020821,p.L74F|uc002aha.3,p.L74F|NM_017684,p.L74F|NM_001018088,p.L74F|ENST00000395896,p.L74F|ENST00000261517,p.L74F|uc002ahc.2,p.L74F|ENST00000395898,p.L74F|ENST00000249837,p.L74F	retained_intron, protein_coding, processed_transcript	uc002ahc.2	nonsynonymous SNV	exon4	c.C220T	p.L74F	IDKLTLKIPWKNLYGEAVVATLEGL	IDKLTLKIPWKNFYGEAVVATLEGL	8.0	7.0	-	-	3903_15:62327219-62327219 G>A_IDKLTLKIPWKNFYGEAVVATLEGL
7:102105175-102105175 C>T	1.0	3903	MELANOMA	-	-	-	-	ALKBH4	uc003uzl.3,p.E37K|ENST00000292566,p.E37K|NM_017621,p.E37K	retained_intron, protein_coding, nonsense_mediated_decay	uc003uzl.3	nonsynonymous SNV	exon1	c.G109A	p.E37K	ICERQRGSDPPWELPPAKTYRFIYC	ICERQRGSDPPWKLPPAKTYRFIYC	7.0	10.0	-	-	3903_7:102105175-102105175 C>T_ICERQRGSDPPWKLPPAKTYRFIYC
4:110402884-110402884 C>T	1.0	3903	MELANOMA	-	-	-	-	SEC24B	ENST00000504968,p.P402L|uc011cfq.2,p.P371L|NM_006323,p.P371L|NM_001300813,p.P402L|uc003hzk.3,p.P371L|uc011cfp.2,p.P402L|ENST00000265175,p.P371L	protein_coding	uc011cfq.2	nonsynonymous SNV	exon4	c.C1112T	p.P371L	EYVNNQASSAPTPLSSTSDDEEEEE	EYVNNQASSAPTLLSSTSDDEEEEE	8.0	1.0	-	-	3903_4:110402884-110402884 C>T_EYVNNQASSAPTLLSSTSDDEEEEE
13:30854357-30854357 G>A	1.0	3903	MELANOMA	-	-	-	-	KATNAL1	ENST00000380617,p.R56W|ENST00000441394,p.R56W|ENST00000414289,p.R56W|uc001ust.4,p.R56W|ENST00000380615,p.R56W|uc001uss.4,p.R56W|NM_032116,p.R56W|NM_001014380,p.R56W	retained_intron, protein_coding	uc001ust.4	nonsynonymous SNV	exon3	c.C166T	p.R56W	RDPAIKGKWQQVRQELLEEYEQVKS	RDPAIKGKWQQVWQELLEEYEQVKS	6.0	7.0	-	-	3903_13:30854357-30854357 G>A_RDPAIKGKWQQVWQELLEEYEQVKS
19:58067700-58067700 G>A	1.0	3903	MELANOMA	-	-	-	-	ZNF550	ENST00000325134,p.A18V|uc002qpc.4,p.A18V|ENST00000601415,p.A18V|ENST00000457177,p.A18V|NM_001277093,p.A18V|uc010eue.3,p.A18V|ENST00000447310,p.A18V|uc002qpd.4,p.A18V|uc031rnf.1,p.A18V|ENST00000376230,p.A18V|NM_001277091,p.A18V|NM_001277092,p.A18V|NM_001277090,p.A18V	retained_intron, protein_coding, nonsense_mediated_decay	uc031rnf.1	nonsynonymous SNV	exon2	c.C53T	p.A18V	DAAQMLVTFKDVAVTFTREEWRQLD	DAAQMLVTFKDVVVTFTREEWRQLD	6.0	3.0	-	-	3903_19:58067700-58067700 G>A_DAAQMLVTFKDVVVTFTREEWRQLD
4:5021123-5021123 G>A	1.0	3903	MELANOMA	-	-	-	-	CYTL1	NM_018659,p.A17V|ENST00000307746,p.A17V|uc003gig.3,p.A17V	protein_coding	uc003gig.3	nonsynonymous SNV	exon1	c.C50T	p.A17V	GPLPVLLLLLAGAPAARPTPPTCYS	GPLPVLLLLLAGVPAARPTPPTCYS	9.0	4.0	unscreened	-	3903_4:5021123-5021123 G>A_GPLPVLLLLLAGVPAARPTPPTCYS
4:8456500-8456500 G>A	1.0	3903	MELANOMA	-	-	ID=COSM1694143,COSM1694144;OCCURENCE=1(skin)	-	TRMT44	ENST00000389737,p.R388K|ENST00000513449,p.R147K|NM_152544,p.R388K|uc003glg.2,p.R388K|uc003glf.1,p.R147K	retained_intron, protein_coding, processed_transcript	uc003glg.2	nonsynonymous SNV	exon6	c.G1163A	p.R388K	EGHPGRGIDVRRRKIWDMYGPQTQL	EGHPGRGIDVRRKKIWDMYGPQTQL	6.0	7.0	-	-	3903_4:8456500-8456500 G>A_EGHPGRGIDVRRKKIWDMYGPQTQL
7:92761222-92761222 T>C	1.0	3903	MELANOMA	-	-	-	-	SAMD9L	uc003umh.1,p.T1355A|uc022ahh.1,p.T1355A|uc003umi.1,p.T1355A|uc010lfd.1,p.T1355A|uc003umj.1,p.T1355A|ENST00000437805,p.T1355A|uc003umk.1,p.T1355A|ENST00000318238,p.T1355A|uc010lfb.1,p.T1355A|NM_152703,p.T1355A|uc010lfc.1,p.T1355A|ENST00000411955,p.T1355A	protein_coding, processed_transcript	uc022ahh.1	nonsynonymous SNV	exon1	c.A4063G	p.T1355A	LLEYLNPNYKDATTMESIVNEYAFL	LLEYLNPNYKDAATMESIVNEYAFL	8.0	4.0	-	-	3903_7:92761222-92761222 T>C_LLEYLNPNYKDAATMESIVNEYAFL
5:7861353-7861353 G>A	1.0	3903	MELANOMA	-	-	-	-	FASTKD3	uc011cmp.2,p.P300L|ENST00000264669,p.P598L|uc003jeb.3,p.P598L|NM_024091,p.P598L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cmp.2	nonsynonymous SNV	exon6	c.C899T	p.P300L	DIHKRIALCIDGPKRFCSNSKHLLG	DIHKRIALCIDGLKRFCSNSKHLLG	7.0	6.0	-	-	3903_5:7861353-7861353 G>A_DIHKRIALCIDGLKRFCSNSKHLLG
19:4028591-4028591 C>T	1.0	3903	MELANOMA	-	-	ID=COSM233103;OCCURENCE=1(skin)	-	PIAS4	uc002lzg.3,p.S222F|NM_015897,p.S222F|ENST00000262971,p.S222F	retained_intron, protein_coding, processed_transcript	uc002lzg.3	nonsynonymous SNV	exon5	c.C665T	p.S222F	PNIAVKVNHSYCSVPGYYPSNKPGV	PNIAVKVNHSYCFVPGYYPSNKPGV	7.0	4.0	-	-	3903_19:4028591-4028591 C>T_PNIAVKVNHSYCFVPGYYPSNKPGV
22:38321909-38321909 C>T	1.0	3903	MELANOMA	-	-	-	-	MICALL1	ENST00000215957,p.P442S|NM_033386,p.P442S|uc003aui.3,p.P442S	protein_coding, processed_transcript	uc003aui.3	nonsynonymous SNV	exon8	c.C1324T	p.P442S	EEEDKEEEAPAAPSLATSPALGHPE	EEEDKEEEAPAASSLATSPALGHPE	9.0	6.0	unscreened	-	3903_22:38321909-38321909 C>T_EEEDKEEEAPAASSLATSPALGHPE
4:74275082-74275082 G>A	0.0	3903	MELANOMA	-	-	-	-	ALB	ENST00000476441,p.M30I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000476441	nonsynonymous SNV	exon2	c.G90A	p.M30I	SRGVFRRDAHTYMKLPEDILTFMPR	SRGVFRRDAHTYIKLPEDILTFMPR	10.0	6.0	unscreened	-	3903_4:74275082-74275082 G>A_SRGVFRRDAHTYIKLPEDILTFMPR
14:21485858-21485858 G>A	1.0	3903	MELANOMA	-	-	-	-	NDRG2	uc001vyy.3,p.S338F|NM_201537,p.S338F|uc001vzd.3,p.S338F|ENST00000397853,p.S338F|uc001vyu.3,p.S295F|NM_016250,p.S324F|uc001vyw.3,p.S324F|ENST00000553503,p.S324F|ENST00000350792,p.S324F|uc001vza.3,p.S324F|uc001vyt.3,p.S251F|NM_001282213,p.S324F|ENST00000555158,p.S324F|ENST00000298684,p.S295F|NM_001282211,p.S334F|ENST00000397858,p.S338F|ENST00000397847,p.S327F|ENST00000397856,p.S308F|NM_201539,p.S338F|NM_001282215,p.S327F|ENST00000554104,p.S251F|ENST00000556147,p.S338F|ENST00000360463,p.S324F|NM_201536,p.S324F|NM_201541,p.S324F|ENST00000554143,p.S324F|NM_201540,p.S338F|uc010aig.3,p.S327F|ENST00000298687,p.S338F|ENST00000397855,p.S295F|uc001vzc.3,p.S308F|NM_001282214,p.S324F|uc001vzb.3,p.S278F|uc001vyv.3,p.S324F|NM_201535,p.S338F|ENST00000403829,p.S334F|uc001vzg.3,p.S324F|uc001vzf.3,p.S324F|uc001vyx.3,p.S338F|ENST00000397844,p.S308F|NM_001282212,p.S308F|NM_201538,p.S324F|ENST00000397851,p.S338F|uc001vyz.3,p.S324F|uc010tll.2,p.S334F|NM_001282216,p.S278F|uc001vze.3,p.S338F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tll.2	nonsynonymous SNV	exon15	c.C1001T	p.S334F	SRSRTASLTSAASVDGNRSRSRTLS	SRSRTASLTSAAFVDGNRSRSRTLS	7.0	9.0	-	-	3903_14:21485858-21485858 G>A_SRSRTASLTSAAFVDGNRSRSRTLS
12:42859010-42859010 C>T	1.0	3903	MELANOMA	-	-	-	-	PRICKLE1	ENST00000345127,p.E276K|uc010skw.2,p.E276K|uc001rnl.3,p.E276K|ENST00000552240,p.E276K|ENST00000548696,p.E276K|ENST00000455697,p.E276K|NM_001144882,p.E276K|uc010skv.2,p.E276K|NM_001144881,p.E276K|uc001rnm.3,p.E276K|NM_001144883,p.E276K|ENST00000445766,p.E276K|NM_153026,p.E276K	protein_coding, processed_transcript	uc010skw.2	nonsynonymous SNV	exon7	c.G826A	p.E276K	QMTYDGQHWHATEACFSCAQCKASL	QMTYDGQHWHATKACFSCAQCKASL	6.0	9.0	-	-	3903_12:42859010-42859010 C>T_QMTYDGQHWHATKACFSCAQCKASL
15:50940897-50940897 G>A	1.0	3903	MELANOMA	-	-	-	-	TRPM7	uc001zyt.4,p.S103F|NM_017672,p.S103F|ENST00000313478,p.S103F|uc010bew.2,p.S103F|ENST00000560955,p.S103F|NM_001301212,p.S103F	retained_intron, protein_coding, processed_transcript	uc010bew.2	nonsynonymous SNV	exon4	c.C308T	p.S103F	AYGVINFQGGSHSYRAKYVRLSYDT	AYGVINFQGGSHFYRAKYVRLSYDT	7.0	3.0	-	-	3903_15:50940897-50940897 G>A_AYGVINFQGGSHFYRAKYVRLSYDT
15:40764221-40764221 A>T	1.0	3903	MELANOMA	-	-	-	-	CHST14	uc001zlw.3,p.E270V|ENST00000306243,p.E270V|ENST00000559991,p.E245V|NM_130468,p.E270V	protein_coding	uc001zlw.3	nonsynonymous SNV	exon1	c.A809T	p.E270V	VTFPEFLRYLVDEDPERMNEHWMPV	VTFPEFLRYLVDVDPERMNEHWMPV	9.0	2.0	-	-	3903_15:40764221-40764221 A>T_VTFPEFLRYLVDVDPERMNEHWMPV
22:37533772-37533772 C>T	0.0	3903	MELANOMA	-	-	ID=COSM240225;OCCURENCE=1(prostate)	-	IL2RB	NM_000878,p.R131H|ENST00000429622,p.R131H|uc003aqv.1,p.R131H|ENST00000453962,p.R131H|ENST00000216223,p.R131H	retained_intron, protein_coding, nonsense_mediated_decay	uc003aqv.1	nonsynonymous SNV	exon6	c.G392A	p.R131H	MAIQDFKPFENLRLMAPISLQVVHV	MAIQDFKPFENLHLMAPISLQVVHV	9.0	2.0	-	-	3903_22:37533772-37533772 C>T_MAIQDFKPFENLHLMAPISLQVVHV
10:13151129-13151129 C>T	1.0	3903	MELANOMA	-	-	-	-	OPTN	uc001ilu.1,p.H3Y|NM_021980,p.H3Y|ENST00000378747,p.H3Y|ENST00000263036,p.H3Y|uc001ily.1,p.H3Y|uc001ilw.1,p.H3Y|NM_001008212,p.H3Y|NM_001008211,p.H3Y|ENST00000378764,p.H3Y|ENST00000378757,p.H3Y|ENST00000378752,p.H3Y|uc001ilv.1,p.H3Y|uc001ilx.1,p.H3Y|NM_001008213,p.H3Y|ENST00000378748,p.H3Y	protein_coding, processed_transcript	uc001ily.1	nonsynonymous SNV	exon4	c.C7T	p.H3Y	MSHQPLSCLTEKEDS	MSYQPLSCLTEKEDS	8.0	10.0	-	-	3903_10:13151129-13151129 C>T_MSYQPLSCLTEKEDS
7:94180774-94180774 C>T	1.0	3903	MELANOMA	-	-	-	-	CASD1	uc003unj.4,p.S647L|ENST00000297273,p.S647L|NM_022900,p.S647L|uc003uni.4,p.S647L	retained_intron, protein_coding, nonsense_mediated_decay	uc003unj.4	nonsynonymous SNV	exon15	c.C1940T	p.S647L	FSNKISNFLLFISVVSFLTYSIWAS	FSNKISNFLLFILVVSFLTYSIWAS	7.0	3.0	-	-	3903_7:94180774-94180774 C>T_FSNKISNFLLFILVVSFLTYSIWAS
4:8229705-8229705 C>T	1.0	3903	MELANOMA	-	-	-	-	SH3TC1	NM_018986,p.P762S|uc003gkv.4,p.P762S|uc003gkw.4,p.P686S|ENST00000539824,p.P686S|ENST00000245105,p.P762S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gkw.4	nonsynonymous SNV	exon12	c.C2056T	p.P686S	LVLQNAPQPHSLPAQTSHYLRQALA	LVLQNAPQPHSLSAQTSHYLRQALA	7.0	2.0	-	-	3903_4:8229705-8229705 C>T_LVLQNAPQPHSLSAQTSHYLRQALA
3:4508881-4508881 C>T	1.0	3903	MELANOMA	-	-	-	-	SUMF1	NM_001164675,p.G17S|uc011ass.2,p.G17S|uc011ast.2,p.G17S|ENST00000405420,p.G17S|NM_001164674,p.G17S|ENST00000448413,p.G17S|uc003bpz.2,p.G17S|ENST00000534863,p.G17S|ENST00000458465,p.G17S|ENST00000383843,p.G17S|ENST00000272902,p.G17S|NM_182760,p.G17S|uc010hby.2,p.G17S	protein_coding, processed_transcript, nonsense_mediated_decay	uc011ast.2	nonsynonymous SNV	exon1	c.G49A	p.G17S	ALGLVCGRCPELGLVLLLLLLSLLC	ALGLVCGRCPELSLVLLLLLLSLLC	6.0	6.0	unscreened	-	3903_3:4508881-4508881 C>T_ALGLVCGRCPELSLVLLLLLLSLLC
2:211471664-211471664 G>A	1.0	3903	MELANOMA	-	-	-	-	CPS1	NM_001875,p.G731S|ENST00000430249,p.G737S|NM_001122634,p.G280S|uc010fur.3,p.G737S|NM_001122633,p.G737S|uc010fus.3,p.G280S|ENST00000233072,p.G731S|uc002vee.4,p.G731S|ENST00000451903,p.G280S	retained_intron, protein_coding, processed_transcript	uc010fus.3	nonsynonymous SNV	exon8	c.G838A	p.G280S	LSRSSALASKATGYPLAFIAAKIAL	LSRSSALASKATSYPLAFIAAKIAL	6.0	5.0	-	-	3903_2:211471664-211471664 G>A_LSRSSALASKATSYPLAFIAAKIAL
3:4508880-4508880 C>T	1.0	3903	MELANOMA	-	-	-	-	SUMF1	uc010hby.2,p.G17D|ENST00000272902,p.G17D|uc011ast.2,p.G17D|ENST00000534863,p.G17D|ENST00000458465,p.G17D|NM_001164675,p.G17D|uc011ass.2,p.G17D|NM_182760,p.G17D|ENST00000405420,p.G17D|ENST00000448413,p.G17D|NM_001164674,p.G17D|ENST00000383843,p.G17D|uc003bpz.2,p.G17D	protein_coding, processed_transcript, nonsense_mediated_decay	uc011ast.2	nonsynonymous SNV	exon1	c.G50A	p.G17D	ALGLVCGRCPELGLVLLLLLLSLLC	ALGLVCGRCPELDLVLLLLLLSLLC	6.0	6.0	unscreened	-	3903_3:4508880-4508880 C>T_ALGLVCGRCPELDLVLLLLLLSLLC
10:108521404-108521404 C>T	1.0	3903	MELANOMA	-	-	ID=COSM1504056,COSM1504055;OCCURENCE=2(lung)	-	SORCS1	uc001kyo.3,p.E301K|NM_001013031,p.E301K|NM_001206570,p.E301K|uc021pxw.1,p.E301K|NM_052918,p.E301K|uc001kyn.2,p.E301K|uc009xxs.3,p.E301K|ENST00000344440,p.E301K|uc001kyl.3,p.E301K|uc001kym.3,p.E301K|NM_001206572,p.E301K|NM_001206571,p.E301K|ENST00000263054,p.E301K|NM_001206569,p.E301K	protein_coding, processed_transcript	uc021pxw.1	nonsynonymous SNV	exon5	c.G901A	p.E301K	AYSQDQKLYSSAEFGRRWQLIQEGV	AYSQDQKLYSSAKFGRRWQLIQEGV	6.0	10.0	-	-	3903_10:108521404-108521404 C>T_AYSQDQKLYSSAKFGRRWQLIQEGV
13:111290720-111290720 C>T	1.0	3903	MELANOMA	-	-	-	-	CARKD	uc001vrc.3,p.P342L|NM_018210,p.P342L|ENST00000309957,p.P342L	protein_coding, processed_transcript	uc001vrc.3	nonsynonymous SNV	exon10	c.C1025T	p.P342L	TPTSPHLLLSPSPQVQPSPGGRVWR	TPTSPHLLLSPSLQVQPSPGGRVWR	9.0	2.0	-	-	3903_13:111290720-111290720 C>T_TPTSPHLLLSPSLQVQPSPGGRVWR
2:236957705-236957705 C>T	1.0	3903	MELANOMA	-	-	-	-	AGAP1	ENST00000336665,p.P579S|NM_014914,p.P579S|NM_001037131,p.P632S|ENST00000409538,p.P844S|ENST00000304032,p.P632S|ENST00000428334,p.P471S|uc002vvt.3,p.P579S|uc002vvs.3,p.P632S	retained_intron, protein_coding	uc002vvt.3	nonsynonymous SNV	exon15	c.C1735T	p.P579S	GNSHCVDCETQNPNWASLNLGALMC	GNSHCVDCETQNSNWASLNLGALMC	7.0	4.0	-	-	3903_2:236957705-236957705 C>T_GNSHCVDCETQNSNWASLNLGALMC
11:26582766-26582766 C>T	1.0	3903	MELANOMA	-	-	-	-	MUC15	ENST00000455601,p.R284Q|uc001mqx.3,p.R284Q|uc001mqw.3,p.R311Q|NM_145650,p.R284Q|ENST00000436318,p.R311Q|ENST00000529533,p.R311Q|NM_001135091,p.R311Q	protein_coding	uc001mqx.3	nonsynonymous SNV	exon4	c.G851A	p.R284Q	RRLYDDRNEPVLRLDNAPEPYDVSF	RRLYDDRNEPVLQLDNAPEPYDVSF	9.0	2.0	-	-	3903_11:26582766-26582766 C>T_RRLYDDRNEPVLQLDNAPEPYDVSF
1:168260616-168260616 C>T	1.0	3903	MELANOMA	-	-	-	-	TBX19	ENST00000367821,p.S141F|NM_005149,p.S141F|uc001gfl.3,p.S141F|uc001gfj.4,p.S72F	protein_coding, processed_transcript	uc001gfl.3	nonsynonymous SNV	exon2	c.C422T	p.S141F	PNFGAHWMKAPISFSKVKLTNKLNG	PNFGAHWMKAPIFFSKVKLTNKLNG	5.0	10.0	-	-	3903_1:168260616-168260616 C>T_PNFGAHWMKAPIFFSKVKLTNKLNG
11:3781801-3781801 G>A	1.0	3903	MELANOMA	-	-	-	1	NUP98	ENST00000355260,p.P381L|ENST00000324932,p.P381L|uc001lyj.2,p.P381L|NM_139131,p.P381L|NM_139132,p.P381L|ENST00000359171,p.P381L|uc001lyh.3,p.P381L|NM_016320,p.P381L|ENST00000397004,p.P381L|uc001lyi.3,p.P381L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001lyj.2	nonsynonymous SNV	exon10	c.C1142T	p.P381L	KLTTFGSSTTSAPSFGTTSGGLFGF	KLTTFGSSTTSALSFGTTSGGLFGF	9.0	8.0	unscreened	-	3903_11:3781801-3781801 G>A_KLTTFGSSTTSALSFGTTSGGLFGF
15:65223062-65223062 A>G	1.0	3903	MELANOMA	-	-	-	-	ANKDD1A	ENST00000487867,p.M114V|ENST00000496660,p.M114V|ENST00000483400,p.M66V|uc002aoa.3,p.M205V|ENST00000395723,p.M114V|NM_182703,p.M205V|ENST00000395720,p.M205V|ENST00000380230,p.M205V|uc010bha.3,p.M114V|uc002any.3,p.M114V|ENST00000357698,p.M205V|uc002anz.3,p.M114V|uc002anx.1,p.M201V|uc002aob.3,p.M70V|ENST00000437723,p.M209V	 processed_transcript,retained_intron, nonsense_mediated_decay, protein_coding	uc010bha.3	nonsynonymous SNV	exon4	c.A340G	p.M114V	NTALHLAAGRGHMAVLQRLVDIGLD	NTALHLAAGRGHVAVLQRLVDIGLD	6.0	3.0	-	-	3903_15:65223062-65223062 A>G_NTALHLAAGRGHVAVLQRLVDIGLD
3:126181024-126181024 G>A	1.0	3903	MELANOMA	-	-	-	-	ZXDC	uc003eiv.3,p.P494L|ENST00000336332,p.P494L|uc003eix.2,p.P494L|ENST00000389709,p.P494L|NM_001040653,p.P494L|NM_025112,p.P494L	retained_intron, protein_coding, nonsense_mediated_decay	uc003eix.2	nonsynonymous SNV	exon6	c.C1481T	p.P494L	LLPQLEAPSSLTPSSELSSPGQSEL	LLPQLEAPSSLTLSSELSSPGQSEL	7.0	3.0	-	-	3903_3:126181024-126181024 G>A_LLPQLEAPSSLTLSSELSSPGQSEL
1:157803300-157803300 G>A	1.0	3903	MELANOMA	-	-	-	-	CD5L	NM_005894,p.P241S|ENST00000368174,p.P241S|uc001frk.4,p.P241S	protein_coding, processed_transcript	uc001frk.4	nonsynonymous SNV	exon5	c.C721T	p.P241S	NHDEDTWVECEDPFDLRLVGGDNLC	NHDEDTWVECEDSFDLRLVGGDNLC	9.0	10.0	-	-	3903_1:157803300-157803300 G>A_NHDEDTWVECEDSFDLRLVGGDNLC
10:94679770-94679770 C>T	1.0	3903	MELANOMA	-	-	-	-	EXOC6	uc001kig.3,p.S284F|ENST00000371552,p.S279F|uc001kie.3,p.S279F|uc009xub.3,p.S284F|ENST00000260762,p.S284F|NM_019053,p.S284F|uc010qnr.2,p.S300F|NM_001013848,p.S279F|ENST00000371547,p.S300F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qnr.2	nonsynonymous SNV	exon9	c.C899T	p.S300F	EEILTVQDLVDFSPVYRCLHIYSVL	EEILTVQDLVDFFPVYRCLHIYSVL	8.0	7.0	-	-	3903_10:94679770-94679770 C>T_EEILTVQDLVDFFPVYRCLHIYSVL
16:72133133-72133133 C>T	1.0	3903	MELANOMA	-	-	-	-	DHX38	ENST00000268482,p.S305L|NM_014003,p.S305L|uc002fcb.3,p.S305L	retained_intron, protein_coding, nonsense_mediated_decay	uc002fcb.3	nonsynonymous SNV	exon7	c.C914T	p.S305L	GRGRREEGEEGISFDTEEERQQWED	GRGRREEGEEGILFDTEEERQQWED	9.0	7.0	-	-	3903_16:72133133-72133133 C>T_GRGRREEGEEGILFDTEEERQQWED
11:3781801-3781801 G>A	1.0	3903	MELANOMA	-	-	-	1	NUP98	uc001lyk.2,p.P381L|NM_005387,p.P381L|ENST00000397007,p.P381L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001lyk.2	nonsynonymous SNV	exon10	c.C1142T	p.P381L	KLTTFGSSTTSAPSFGTTSGGLFGN	KLTTFGSSTTSALSFGTTSGGLFGN	9.0	8.0	-	-	3903_11:3781801-3781801 G>A_KLTTFGSSTTSALSFGTTSGGLFGN
15:30034905-30034905 G>A	1.0	3903	MELANOMA	-	-	-	-	TJP1	uc010azl.3,p.P352L|uc001zcq.3,p.P368L|uc001zcr.3,p.P364L|NM_001301026,p.P368L|ENST00000545208,p.P364L|ENST00000400011,p.P368L|NM_003257,p.P364L|NM_001301025,p.P431L|NM_175610,p.P364L|uc001zcs.3,p.P364L|ENST00000356107,p.P364L|ENST00000346128,p.P364L	retained_intron, protein_coding	uc010azl.3	nonsynonymous SNV	exon8	c.C1055T	p.P352L	VSTPVKHADDHTPKTVEEVTVERNE	VSTPVKHADDHTLKTVEEVTVERNE	8.0	7.0	-	-	3903_15:30034905-30034905 G>A_VSTPVKHADDHTLKTVEEVTVERNE
7:156529291-156529291 C>T	0.0	3903	MELANOMA	-	-	-	-	LMBR1	ENST00000415428,p.G257E|ENST00000354505,p.G259E|uc010lqn.3,p.G259E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lqn.3	nonsynonymous SNV	exon10	c.G776A	p.G259E	LQRRLNVGMLCAGNPEVATGRQVPE	LQRRLNVGMLCAENPEVATGRQVPE	8.0	1.0	-	-	3903_7:156529291-156529291 C>T_LQRRLNVGMLCAENPEVATGRQVPE
3:38151703-38151703 G>A	0.0	3903	MELANOMA	-	-	-	-	DLEC1	ENST00000308059,p.R1125Q|uc003chr.1,p.R231Q|NM_007335,p.R1125Q|ENST00000346219,p.R1125Q|NM_007337,p.R1125Q|ENST00000452631,p.R1128Q|uc003chp.1,p.R1125Q|uc003cho.1,p.R1125Q|uc010hgv.1,p.R1128Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hgv.1	nonsynonymous SNV	exon23	c.G3383A	p.R1128Q	TRQLILTNRSPIRTRFSLKFEYFGS	TRQLILTNRSPIQTRFSLKFEYFGS	6.0	2.0	-	-	3903_3:38151703-38151703 G>A_TRQLILTNRSPIQTRFSLKFEYFGS
19:52249734-52249734 C>T	0.0	3903	MELANOMA	-	-	-	-	FPR1	NM_001193306,p.G172R|NM_002029,p.G172R|ENST00000600815,p.G172R|uc021uyo.1,p.G172R|uc002pxq.3,p.G172R|ENST00000595042,p.G172R|ENST00000304748,p.G172R|uc021uyn.1,p.G172R	protein_coding	uc021uyo.1	nonsynonymous SNV	exon1	c.G514A	p.G172R	VIIRVTTVPGKTGTVACTFNFSPWT	VIIRVTTVPGKTRTVACTFNFSPWT	8.0	8.0	-	-	3903_19:52249734-52249734 C>T_VIIRVTTVPGKTRTVACTFNFSPWT
3:15292741-15292741 C>T	1.0	3903	MELANOMA	-	-	-	-	CAPN7	ENST00000253693,p.P806S|NM_014296,p.P806S|uc003bzn.3,p.P806S	retained_intron, protein_coding, nonsense_mediated_decay	uc003bzn.3	nonsynonymous SNV	exon21	c.C2416T	p.P806S	EGPFFLDFNSIIPIKITQLQ	EGPFFLDFNSIISIKITQLQ	7.0	2.0	-	-	3903_3:15292741-15292741 C>T_EGPFFLDFNSIISIKITQLQ
8:100847801-100847801 T>G	1.0	3903	MELANOMA	-	-	-	-	VPS13B	uc003yiw.4,p.I3259M|ENST00000357162,p.I3259M|uc003yiv.4,p.I3284M|NM_017890,p.I3284M|NM_152564,p.I3259M|ENST00000358544,p.I3284M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yiw.4	nonsynonymous SNV	exon54	c.T9777G	p.I3259M	KDIPKFEVYCKKIPSECSIHHELYH	KDIPKFEVYCKKMPSECSIHHELYH	6.0	5.0	unscreened	-	3903_8:100847801-100847801 T>G_KDIPKFEVYCKKMPSECSIHHELYH
18:7080286-7080286 C>T	0.0	3903	MELANOMA	-	-	-	-	LAMA1	NM_005559,p.E78K|ENST00000389658,p.E78K|uc002knm.3,p.E78K	retained_intron, protein_coding	uc002knm.3	nonsynonymous SNV	exon2	c.G232A	p.E78K	CRICDGNSANPRERHPISHAIDGTN	CRICDGNSANPRKRHPISHAIDGTN	7.0	10.0	-	-	3903_18:7080286-7080286 C>T_CRICDGNSANPRKRHPISHAIDGTN
16:19554008-19554008 G>A	1.0	3903	MELANOMA	-	-	-	-	CCP110	NM_001199022,p.G765R|ENST00000396208,p.G765R|ENST00000381396,p.G765R|ENST00000396212,p.G765R|uc002dgl.4,p.G765R|uc002dgk.4,p.G765R|NM_014711,p.G765R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dgl.4	nonsynonymous SNV	exon7	c.G2293A	p.G765R	FVSANEAPFYLWGSSTSGLTKLSVT	FVSANEAPFYLWRSSTSGLTKLSVT	6.0	6.0	-	-	3903_16:19554008-19554008 G>A_FVSANEAPFYLWRSSTSGLTKLSVT
1:94140392-94140392 G>A	1.0	3903	MELANOMA	-	-	-	-	BCAR3	ENST00000260502,p.S32F|uc001dpz.4,p.S32F|ENST00000370244,p.S32F|NM_003567,p.S32F|NM_001261408,p.S32F|uc001dqa.4,p.S32F|NM_001261409,p.S32F|uc001dqb.4,p.S32F|ENST00000370243,p.S32F	retained_intron, protein_coding, processed_transcript	uc001dqb.4	nonsynonymous SNV	exon4	c.C95T	p.S32F	PLASSMDLLSSRSPLAEHRPDAYQD	PLASSMDLLSSRFPLAEHRPDAYQD	8.0	4.0	-	-	3903_1:94140392-94140392 G>A_PLASSMDLLSSRFPLAEHRPDAYQD
3:153943651-153943651 C>T	1.0	3903	MELANOMA	-	-	ID=COSM445831,COSM445832,COSM445833;OCCURENCE=1(breast)	-	ARHGEF26	uc011boh.1,p.P648S|NM_001251962,p.P648S|NM_001251963,p.P648S|NM_015595,p.P648S|ENST00000496710,p.P648S|ENST00000465093,p.P648S|uc011bog.1,p.P648S|ENST00000356448,p.P648S|uc021xgc.1,p.P648S	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xgc.1	nonsynonymous SNV	exon11	c.C1942T	p.P648S	INSQLEFKIKPFPLVSSSRWLVKRG	INSQLEFKIKPFSLVSSSRWLVKRG	5.0	9.0	-	-	3903_3:153943651-153943651 C>T_INSQLEFKIKPFSLVSSSRWLVKRG
2:151343801-151343801 G>T	1.0	3903	MELANOMA	-	-	-	-	RND3	NM_005168,p.A44D|ENST00000263895,p.A44D|ENST00000439275,p.A44D|NM_001254738,p.A44D|uc002txg.3,p.A44D|ENST00000454202,p.A44D|uc010zbv.2,p.A44D|ENST00000375734,p.A44D|uc002txe.3,p.A44D	retained_intron, protein_coding, processed_transcript	uc010zbv.2	nonsynonymous SNV	exon2	c.C131A	p.A44D	SQCGKTALLHVFAKDCFPENYVPTV	SQCGKTALLHVFDKDCFPENYVPTV	10.0	2.0	-	-	3903_2:151343801-151343801 G>T_SQCGKTALLHVFDKDCFPENYVPTV
12:53345928-53345928 G>A	1.0	3903	MELANOMA	-	-	-	-	KRT18	uc001sbe.3,p.R325K|ENST00000550600,p.R325K|ENST00000388835,p.R325K|uc009zmn.2,p.R325K|ENST00000388837,p.R325K|NM_000224,p.R325K|NM_199187,p.R325K|uc001sbg.3,p.R325K	retained_intron, protein_coding	uc009zmn.2	nonsynonymous SNV	exon7	c.G974A	p.R325K	MRNLKASLENSLREVEARYALQMEQ	MRNLKASLENSLKEVEARYALQMEQ	9.0	7.0	-	-	3903_12:53345928-53345928 G>A_MRNLKASLENSLKEVEARYALQMEQ
4:138450913-138450913 G>A	1.0	3903	MELANOMA	-	-	ID=COSM1219479;OCCURENCE=1(large_intestine)	-	PCDH18	ENST00000412923,p.S777L|uc003ihg.4,p.S557L|ENST00000344876,p.S777L|uc003ihf.4,p.S770L|ENST00000507846,p.S557L|uc003ihe.4,p.S777L|NM_001300828,p.S777L|NM_019035,p.S777L	protein_coding	uc003ihg.4	nonsynonymous SNV	exon2	c.C1670T	p.S557L	INGTLPIRSHHRSSPSSSPTLERGQ	INGTLPIRSHHRLSPSSSPTLERGQ	6.0	6.0	-	-	3903_4:138450913-138450913 G>A_INGTLPIRSHHRLSPSSSPTLERGQ
1:93300354-93300354 G>A	1.0	3903	MELANOMA	-	-	-	1	RPL5	NM_000969,p.E70K|ENST00000315741,p.E20K|uc001doz.3,p.E70K|ENST00000370321,p.E70K|uc001dpb.3,p.E20K	protein_coding, processed_transcript	uc001dpb.3	nonsynonymous SNV	exon2	c.G58A	p.E20K	RDIICQIAYARIEGDMIVCAAYAHE	RDIICQIAYARIKGDMIVCAAYAHE	10.0	5.0	-	-	3903_1:93300354-93300354 G>A_RDIICQIAYARIKGDMIVCAAYAHE
6:137519656-137519656 G>A	1.0	3903	MELANOMA	-	-	-	-	IFNGR1	ENST00000367739,p.P328S|NM_000416,p.P328S|uc003qho.2,p.P328S|uc011edm.1,p.P300S|ENST00000543628,p.P300S	protein_coding, processed_transcript	uc011edm.1	nonsynonymous SNV	exon7	c.C898T	p.P300S	LEKEVVCEEPLSPATVPGMHTEDNP	LEKEVVCEEPLSSATVPGMHTEDNP	9.0	9.0	-	-	3903_6:137519656-137519656 G>A_LEKEVVCEEPLSSATVPGMHTEDNP
8:145755962-145755962 C>T	1.0	3903	MELANOMA	-	-	-	-	ARHGAP39	NM_025251,p.M1063I|uc003zdt.1,p.M1032I|ENST00000276826,p.M1032I|ENST00000540274,p.M1032I|ENST00000377307,p.M1063I|uc003zds.1,p.M1063I|uc011llk.1,p.M1032I	protein_coding, processed_transcript	uc011llk.1	nonsynonymous SNV	exon11	c.G3096A	p.M1032I	VFVQPANVAVTKMDVSNLAMVMAPN	VFVQPANVAVTKIDVSNLAMVMAPN	6.0	2.0	-	-	3903_8:145755962-145755962 C>T_VFVQPANVAVTKIDVSNLAMVMAPN
3:137886093-137886093 G>A	1.0	3903	MELANOMA	-	-	-	-	DBR1	NM_016216,p.H182Y|uc003eru.3,p.H131Y|uc003erv.3,p.H182Y|ENST00000260803,p.H182Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003erv.3	nonsynonymous SNV	exon5	c.C544T	p.H182Y	IFLSHDWPRSIYHYGNKKQLLKTKS	IFLSHDWPRSIYYYGNKKQLLKTKS	7.0	2.0	-	-	3903_3:137886093-137886093 G>A_IFLSHDWPRSIYYYGNKKQLLKTKS
9:97912215-97912215 C>T	1.0	3903	MELANOMA	-	-	-	1	FANCC	NM_000136,p.A226T|uc022bkl.1,p.A226T|ENST00000375305,p.A226T|NM_001243744,p.A226T|uc004avh.3,p.A226T|NM_001243743,p.A226T|uc004avi.4,p.A226T|ENST00000289081,p.A226T	protein_coding, processed_transcript	uc022bkl.1	nonsynonymous SNV	exon7	c.G676A	p.A226T	ILQPEFFEAVNEAILLKKISLPMSA	ILQPEFFEAVNETILLKKISLPMSA	6.0	10.0	-	-	3903_9:97912215-97912215 C>T_ILQPEFFEAVNETILLKKISLPMSA
1:230895368-230895368 C>T	0.0	3903	MELANOMA	-	-	-	-	CAPN9	uc001hua.1,p.H132Y|uc001htz.1,p.H132Y|NM_006615,p.H132Y|NM_016452,p.H132Y|ENST00000354537,p.H132Y|ENST00000271971,p.H132Y	protein_coding, processed_transcript	uc001hua.1	nonsynonymous SNV	exon3	c.C394T	p.H132Y	DQSFGPGYAGIFHFQFWQHSEWLDV	DQSFGPGYAGIFYFQFWQHSEWLDV	1.0	7.0	-	-	3903_1:230895368-230895368 C>T_DQSFGPGYAGIFYFQFWQHSEWLDV
5:139931628-139931628 ->GTC	1.0	3903	MELANOMA	-	-	ID=COSM1192026;OCCURENCE=1(central_nervous_system)	-	SRA1	uc010jfm.3,p.V36delinsGL|ENST00000336283,p.V110delinsGL|uc003lfz.3,p.V36delinsGL|uc003lga.3,p.V110delinsGL|NM_001035235,p.V110delinsGL	retained_intron, protein_coding	uc010jfm.3	nonframeshift insertion	exon3	c.106_107insGAC	p.V36delinsGL	VEPTSFPVESEAVMEDVLRPLEQAL	VEPTSFPVESEAGLMEDVLRPLEQA	8.0	1.0	unscreened	-	3903_5:139931628-139931628 ->GTC_VEPTSFPVESEAGLMEDVLRPLEQA
1:28864473-28864473 G>A	1.0	3903	MELANOMA	-	-	-	-	RCC1	ENST00000398958,p.G407E|NM_001048195,p.G424E|ENST00000373833,p.G407E|uc001bqa.2,p.G407E|uc001bqc.2,p.G407E|ENST00000373831,p.G438E|NM_001048194,p.G438E|NM_001048199,p.G407E|uc001bqg.2,p.G407E|NM_001269,p.G407E|ENST00000373832,p.G407E|uc001bqf.2,p.G438E|uc001bqb.2,p.G407E|uc001bqe.2,p.G424E	retained_intron, protein_coding, nonsense_mediated_decay	uc001bqg.2	nonsynonymous SNV	exon10	c.G1220A	p.G407E	QLENRVVLSVSSGGQHTVLLVKDKE	QLENRVVLSVSSEGQHTVLLVKDKE	9.0	4.0	-	-	3903_1:28864473-28864473 G>A_QLENRVVLSVSSEGQHTVLLVKDKE
5:180276265-180276265 G>A	1.0	3903	MELANOMA	-	-	-	-	ZFP62	uc010jlk.3,p.L711F|NM_152283,p.L711F|uc021yjo.1,p.L711F|ENST00000502412,p.L744F|uc011dhe.2,p.L711F|ENST00000359141,p.L684F|uc011dhf.2,p.L744F|ENST00000512132,p.L711F|NM_001172638,p.L744F	retained_intron, protein_coding, processed_transcript	uc021yjo.1	nonsynonymous SNV	exon1	c.C2131T	p.L711F	VECGKSFSYSSLLSQHKRIHTGEKP	VECGKSFSYSSLFSQHKRIHTGEKP	7.0	1.0	-	-	3903_5:180276265-180276265 G>A_VECGKSFSYSSLFSQHKRIHTGEKP
7:141952072-141952072 G>A	0.0	3903	MELANOMA	-	-	-	-	PRSS58	uc003vxb.3,p.P232L|uc003vxc.4,p.P232L|ENST00000552471,p.P232L|ENST00000547058,p.P232L|NM_001001317,p.P232L	protein_coding	uc003vxc.4	nonsynonymous SNV	exon6	c.C695T	p.P232L	DVGIYAKIFYYIPWIENVIQNN	DVGIYAKIFYYILWIENVIQNN	1.0	9.0	-	-	3903_7:141952072-141952072 G>A_DVGIYAKIFYYILWIENVIQNN
1:2530093-2530093 C>T	0.0	3903	MELANOMA	-	-	-	-	MMEL1	uc001ajy.2,p.R393K|ENST00000288709,p.R384K|ENST00000502556,p.R236K|NM_033467,p.R393K|ENST00000504800,p.R393K|ENST00000378412,p.R393K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ajy.2	nonsynonymous SNV	exon12	c.G1178A	p.R393K	QNLENIIDTYSARTIQNYLVWRLVL	QNLENIIDTYSAKTIQNYLVWRLVL	9.0	7.0	-	-	3903_1:2530093-2530093 C>T_QNLENIIDTYSAKTIQNYLVWRLVL
12:69113358-69113358 G>A	1.0	3903	MELANOMA	-	-	-	-	NUP107	NM_020401,p.G392E|ENST00000378905,p.G241E|ENST00000539906,p.G363E|uc001suf.3,p.G392E|uc001sug.3,p.G239E|ENST00000229179,p.G392E|uc010stj.2,p.G363E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010stj.2	nonsynonymous SNV	exon14	c.G1088A	p.G363E	GWKLYHDPNVNGGTELEPVEGNPYR	GWKLYHDPNVNGETELEPVEGNPYR	8.0	3.0	-	-	3903_12:69113358-69113358 G>A_GWKLYHDPNVNGETELEPVEGNPYR
6:170627010-170627010 G>A	1.0	3903	MELANOMA	-	-	-	-	FAM120B	uc003qxo.1,p.E178K|uc003qxp.3,p.E178K|NM_001286380,p.E201K|NM_032448,p.E178K|ENST00000476287,p.E178K|ENST00000540480,p.E190K|ENST00000537664,p.E201K|NM_001286379,p.E190K|ENST00000366751,p.E178K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003qxp.3	nonsynonymous SNV	exon2	c.G532A	p.E178K	YGLQHNCLGILGEDTDYLIYDTCPY	YGLQHNCLGILGKDTDYLIYDTCPY	8.0	7.0	-	-	3903_6:170627010-170627010 G>A_YGLQHNCLGILGKDTDYLIYDTCPY
2:100917203-100917203 T>A	1.0	3903	MELANOMA	-	-	-	-	LONRF2	uc002tal.4,p.N323I|ENST00000393437,p.N323I|ENST00000409647,p.N80I|NM_198461,p.N323I	protein_coding	uc002tal.4	nonsynonymous SNV	exon4	c.A968T	p.N323I	EVLFSATANVHENLTSSIQSRLKAQ	EVLFSATANVHEILTSSIQSRLKAQ	4.0	4.0	-	-	3903_2:100917203-100917203 T>A_EVLFSATANVHEILTSSIQSRLKAQ
7:140453136-140453136 A>T	1.0	3903	MELANOMA	-	-	ID=COSM476;OCCURENCE=3(adrenal_gland),3(urinary_tract),4(genital_tract),7(pancreas),16(liver),68(eye),2(prostate),4161(large_intestine),21(biliary_tract),11(breast),4377(skin),9(small_intestine),1(autonomic_ganglia),20(pituitary),242(ovary),32(soft_tissue),7(testis),459(haematopoietic_and_lymphoid_tissue),9534(thyroid),78(lung),1(meninges),12(upper_aerodigestive_tract),717(NS),15(bone),2(oesophagus),4(stomach),228(central_nervous_system)	1	BRAF	ENST00000479537,p.V28E|ENST00000288602,p.V600E|NM_004333,p.V600E|uc003vwc.4,p.V600E	retained_intron, protein_coding, nonsense_mediated_decay	uc003vwc.4	nonsynonymous SNV	exon15	c.T1799A	p.V600E	LTVKIGDFGLATVKSRWSGSHQFEQ	LTVKIGDFGLATEKSRWSGSHQFEQ	7.0	10.0	-	-	3903_7:140453136-140453136 A>T_LTVKIGDFGLATEKSRWSGSHQFEQ
11:55606607-55606607 C>T	0.0	3903	MELANOMA	-	-	-	-	OR5D16	ENST00000378396,p.A127V|uc010rio.2,p.A127V|NM_001005496,p.A127V	protein_coding	uc010rio.2	nonsynonymous SNV	exon1	c.C380T	p.A127V	ILFAVMAYDHFVAICNPLLYTVAIS	ILFAVMAYDHFVVICNPLLYTVAIS	1.0	2.0	-	-	3903_11:55606607-55606607 C>T_ILFAVMAYDHFVVICNPLLYTVAIS
8:145692885-145692885 G>A	1.0	3903	MELANOMA	-	-	-	-	KIFC2	uc003zcz.3,p.E163K|NM_145754,p.E163K|ENST00000301332,p.E163K	retained_intron, protein_coding, processed_transcript	uc003zcz.3	nonsynonymous SNV	exon5	c.G487A	p.E163K	RPPSPDGSTSQEESPSHFTAVPGEP	RPPSPDGSTSQEKSPSHFTAVPGEP	8.0	1.0	-	-	3903_8:145692885-145692885 G>A_RPPSPDGSTSQEKSPSHFTAVPGEP
4:74275082-74275082 G>A	0.0	3903	MELANOMA	-	-	-	-	ALB	ENST00000401494,p.E50K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000401494	nonsynonymous SNV	exon3	c.G148A	p.E50K	LGEENFKALYLYEIARRHPYFYAPE	LGEENFKALYLYKIARRHPYFYAPE	10.0	6.0	unscreened	-	3903_4:74275082-74275082 G>A_LGEENFKALYLYKIARRHPYFYAPE
16:3340394-3340394 C>T	1.0	3903	MELANOMA	-	-	-	-	ZNF263	uc002cuq.3,p.P630S|ENST00000538765,p.P278S|uc010uww.2,p.P278S|uc002cur.2,p.P278S|NM_005741,p.P630S|ENST00000219069,p.P630S	protein_coding, processed_transcript	uc010uww.2	nonsynonymous SNV	exon2	c.C832T	p.P278S	LIRHQRIHTGEKPYTCHECGDSFSH	LIRHQRIHTGEKSYTCHECGDSFSH	8.0	6.0	-	-	3903_16:3340394-3340394 C>T_LIRHQRIHTGEKSYTCHECGDSFSH
16:84691501-84691501 C>T	1.0	3903	MELANOMA	-	-	-	-	KLHL36	ENST00000258157,p.A363V|uc010chl.3,p.A362V	retained_intron, protein_coding	uc010chl.3	nonsynonymous SNV	exon3	c.C1085T	p.A362V	GGSFSRDNGGDAASNLLYRFTYGHA	GGSFSRDNGGDAVSNLLYRFTYGHA	7.0	7.0	unscreened	-	3903_16:84691501-84691501 C>T_GGSFSRDNGGDAVSNLLYRFTYGHA
1:101705292-101705292 C>T	0.0	3903	MELANOMA	-	-	-	-	S1PR1	uc009weg.2,p.S251L|uc021oqt.1,p.S251L|uc001dud.2,p.S251L|NM_001400,p.S251L|ENST00000305352,p.S251L	protein_coding, processed_transcript	uc021oqt.1	nonsynonymous SNV	exon1	c.C752T	p.S251L	KNISKASRSSEKSLALLKTVIIVLS	KNISKASRSSEKLLALLKTVIIVLS	7.0	3.0	-	-	3903_1:101705292-101705292 C>T_KNISKASRSSEKLLALLKTVIIVLS
19:30502122-30502122 G>A	1.0	3903	MELANOMA	-	-	-	-	URI1	ENST00000360605,p.R368K|uc002nss.3,p.R346K|NM_001252641,p.R368K|NM_003796,p.R386K|ENST00000392271,p.R310K|ENST00000312051,p.R346K|uc002nsq.3,p.R368K|uc002nsr.3,p.R386K|ENST00000542441,p.R386K|uc002nst.3,p.R310K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002nst.3	nonsynonymous SNV	exon7	c.G929A	p.R310K	GSGHSAQELPTIRTPADIYRAFVDV	GSGHSAQELPTIKTPADIYRAFVDV	9.0	9.0	-	-	3903_19:30502122-30502122 G>A_GSGHSAQELPTIKTPADIYRAFVDV
17:79826558-79826558 G>A	1.0	3903	MELANOMA	-	-	-	-	ARHGDIA	ENST00000583868,p.P233S|NM_001301242,p.P233S|uc021ufe.1,p.P48S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ufe.1	nonsynonymous SNV	exon1	c.C142T	p.P48S	PTPLLSPPPPTGPASSVSCLVAASA	PTPLLSPPPPTGSASSVSCLVAASA	10.0	4.0	unscreened	-	3903_17:79826558-79826558 G>A_PTPLLSPPPPTGSASSVSCLVAASA
7:149421769-149421769 C>T	1.0	3903	MELANOMA	-	-	-	-	KRBA1	uc003wfz.3,p.P319S|ENST00000255992,p.P319S|ENST00000319551,p.P319S|ENST00000485033,p.P319S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003wfz.3	nonsynonymous SNV	exon9	c.C955T	p.P319S	GSGGPGYLLTPPPHPDLGAGGLLSV	GSGGPGYLLTPPSHPDLGAGGLLSV	7.0	1.0	unscreened	-	3903_7:149421769-149421769 C>T_GSGGPGYLLTPPSHPDLGAGGLLSV
1:225510463-225510463 C>T	0.0	3903	MELANOMA	-	-	-	-	DNAH14	ENST00000445597,p.L2399F|ENST00000430092,p.L3052F|ENST00000439375,p.L3052F|uc001how.2,p.L3052F|NM_001373,p.L3052F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001how.2	nonsynonymous SNV	exon60	c.C9154T	p.L3052F	QKKPNWATAKLLLSETGFLKKLINL	QKKPNWATAKLLFSETGFLKKLINL	8.0	1.0	-	-	3903_1:225510463-225510463 C>T_QKKPNWATAKLLFSETGFLKKLINL
4:74275082-74275082 G>A	0.0	3903	MELANOMA	-	-	-	-	ALB	uc003hgs.4,p.E165K|ENST00000441319,p.E167K|ENST00000295897,p.E165K|NM_000477,p.E165K|uc011cbf.2,p.E55K|ENST00000509063,p.E165K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cbf.2	nonsynonymous SNV	exon4	c.G163A	p.E55K	DNEETFLKKYLYEIARRHPYFYAPE	DNEETFLKKYLYKIARRHPYFYAPE	10.0	6.0	-	-	3903_4:74275082-74275082 G>A_DNEETFLKKYLYKIARRHPYFYAPE
4:74275082-74275082 G>A	0.0	3903	MELANOMA	-	-	-	-	ALB	ENST00000503124,p.E15K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000503124	nonsynonymous SNV	exon3	c.G43A	p.E15K	QLKIVTNHLYLYEIARRHPYFYAPE	QLKIVTNHLYLYKIARRHPYFYAPE	10.0	6.0	unscreened	-	3903_4:74275082-74275082 G>A_QLKIVTNHLYLYKIARRHPYFYAPE
12:7289434-7289434 C>T	0.0	3903	MELANOMA	-	-	-	-	CLSTN3	ENST00000537408,p.T325I|NM_014718,p.T313I|ENST00000266546,p.T313I|uc001qss.3,p.T325I|uc001qsr.3,p.T313I	retained_intron, protein_coding, processed_transcript	uc001qss.3	nonsynonymous SNV	exon6	c.C974T	p.T325I	SERALRKLCGAATGEVDLLPMPGPN	SERALRKLCGAAIGEVDLLPMPGPN	7.0	2.0	-	-	3903_12:7289434-7289434 C>T_SERALRKLCGAAIGEVDLLPMPGPN
17:76087610-76087610 C>T	1.0	3903	MELANOMA	-	-	-	-	TNRC6C	ENST00000335749,p.P1295S|ENST00000588847,p.P1295S|ENST00000541771,p.P1298S|uc002jud.2,p.P1298S|ENST00000588061,p.P1298S|NM_018996,p.P1298S|NM_001142640,p.P1295S|ENST00000301624,p.P1298S|ENST00000544502,p.P1295S|uc002juf.2,p.P1295S	retained_intron, protein_coding	uc002juf.2	nonsynonymous SNV	exon15	c.C3883T	p.P1295S	SVKDPSQSQSRLPQWTHPNSMDNLP	SVKDPSQSQSRLSQWTHPNSMDNLP	6.0	4.0	-	-	3903_17:76087610-76087610 C>T_SVKDPSQSQSRLSQWTHPNSMDNLP
9:95768392-95768392 G>A	1.0	3903	MELANOMA	-	-	-	-	FGD3	NM_033086,p.R256Q|ENST00000416701,p.R256Q|NM_001083536,p.R256Q|uc004asz.2,p.R256Q|ENST00000467786,p.R256Q|ENST00000337352,p.R256Q|uc004asw.2,p.R256Q|uc004asx.2,p.R256Q|ENST00000375482,p.R256Q|NM_001286993,p.R256Q|uc004ata.3,p.R59Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc004ata.3	nonsynonymous SNV	exon3	c.G176A	p.R59Q	LKMYGEYVKNFDRAVGLVSTWTQRS	LKMYGEYVKNFDQAVGLVSTWTQRS	6.0	10.0	-	-	3903_9:95768392-95768392 G>A_LKMYGEYVKNFDQAVGLVSTWTQRS
1:120930207-120930207 C>T	0.0	3903	MELANOMA	-	-	-	-	FCGR1B	uc009whs.2,p.V133M|NM_001017986,p.V132M|NM_001244910,p.V132M|uc009whr.2,p.V132M|ENST00000369383,p.V40M|uc001eiq.3,p.V40M|NM_001004340,p.V40M|ENST00000369384,p.V132M|uc001eip.3,p.V132M	protein_coding, processed_transcript	uc009whs.2	nonsynonymous SNV	exon4	c.G397A	p.V133M	LALRCHAWKDKLVYNVLYYRNGKAF	LALRCHAWKDKLMYNVLYYRNGKAF	8.0	3.0	unscreened	-	3903_1:120930207-120930207 C>T_LALRCHAWKDKLMYNVLYYRNGKAF
16:70884548-70884548 C>T	0.0	3903	MELANOMA	-	-	-	-	HYDIN	uc031qwy.1,p.D4152N|NM_001270974,p.D4152N|ENST00000393567,p.D4152N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon74	c.G12454A	p.D4152N	EGWIPPLSRFPIDIFFTPKQEGDVN	EGWIPPLSRFPINIFFTPKQEGDVN	3.0	6.0	-	-	3903_16:70884548-70884548 C>T_EGWIPPLSRFPINIFFTPKQEGDVN
14:21570578-21570578 G>A	0.0	3903	MELANOMA	-	-	-	-	TMEM253	uc010tlo.2,p.M97I|ENST00000418511,p.M97I|ENST00000556585,p.M97I|NM_001146683,p.M97I|ENST00000554329,p.M60I	retained_intron, protein_coding	uc010tlo.2	nonsynonymous SNV	exon6	c.G291A	p.M97I	RRAPRLWKVRAMMIFNTFNLILGFI	RRAPRLWKVRAMIIFNTFNLILGFI	3.0	1.0	unscreened	-	3903_14:21570578-21570578 G>A_RRAPRLWKVRAMIIFNTFNLILGFI
17:78320426-78320426 C>T	1.0	3903	MELANOMA	-	-	-	1	RNF213	ENST00000336301,p.P837L|ENST00000508628,p.P2813L|ENST00000582970,p.P2764L|NM_001256071,p.P2764L|uc021uen.2,p.P2764L	retained_intron, protein_coding, processed_transcript	uc021uen.2	nonsynonymous SNV	exon29	c.C8291T	p.P2764L	VFMMVVCIELKIPLFLVGKPGSSKS	VFMMVVCIELKILLFLVGKPGSSKS	10.0	8.0	-	-	3903_17:78320426-78320426 C>T_VFMMVVCIELKILLFLVGKPGSSKS
2:166848783-166848783 G>A	1.0	3903	MELANOMA	-	-	-	-	SCN1A	ENST00000423058,p.P1668S|uc021vsb.1,p.P1657S|ENST00000409050,p.P1640S|NM_001202435,p.P1668S|NM_001165964,p.P1640S|NM_006920,p.P1657S|uc002udo.4,p.P1668S|NM_001165963,p.P1668S|ENST00000375405,p.P1657S|ENST00000303395,p.P1668S|uc010fpk.3,p.P1640S	retained_intron, protein_coding	uc021vsb.1	nonsynonymous SNV	exon26	c.C4969T	p.P1657S	IRTLLFALMMSLPALFNIGLLLFLV	IRTLLFALMMSLSALFNIGLLLFLV	4.0	9.0	unscreened	-	3903_2:166848783-166848783 G>A_IRTLLFALMMSLSALFNIGLLLFLV
16:89735793-89735793 C>T	1.0	3903	MELANOMA	-	-	-	-	SPATA33	uc031qxn.1,p.S73F|ENST00000579310,p.S104F|NM_001271907,p.S104F|uc031qxq.1,p.S73F|NM_153025,p.S103F|NM_001271909,p.S73F|NM_001271908,p.S73F|uc002fnw.2,p.S103F|ENST00000566204,p.S110F|ENST00000301031,p.S103F|uc010vpk.2,p.S104F	protein_coding, processed_transcript, nonsense_mediated_decay	uc031qxq.1	nonsynonymous SNV	exon2	c.C218T	p.S73F	TRASNETLVSCSSSGSDQQRTIREP	TRASNETLVSCSFSGSDQQRTIREP	6.0	7.0	-	-	3903_16:89735793-89735793 C>T_TRASNETLVSCSFSGSDQQRTIREP
1:144864222-144864222 T>A	0.0	3903	MELANOMA	-	-	-	1	PDE4DIP	uc001elx.4,p.Q1852L|NM_001198832,p.Q1852L|uc001ema.3,p.Q145L|ENST00000369354,p.Q1958L|uc001elw.4,p.Q1958L|ENST00000369359,p.Q2094L|ENST00000313382,p.Q1852L|ENST00000530740,p.Q2043L|NM_001198834,p.Q1958L|uc001elv.4,p.Q965L|NM_014644,p.Q1958L|uc021ouh.1,p.Q1958L|ENST00000369356,p.Q1958L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ouh.1	nonsynonymous SNV	exon36	c.A5873T	p.Q1958L	LEKELEHQKVERQQLLEDLREKQQE	LEKELEHQKVERLQLLEDLREKQQE	10.0	1.0	unscreened	-	3903_1:144864222-144864222 T>A_LEKELEHQKVERLQLLEDLREKQQE
1:155451059-155451059 C>T	1.0	3903	MELANOMA	-	-	-	-	ASH1L	ENST00000392403,p.M534I|NM_018489,p.M534I|uc009wqr.1,p.M534I|ENST00000368346,p.M534I|uc001fkt.3,p.M534I|uc009wqq.3,p.M534I	retained_intron, protein_coding, nonsense_mediated_decay	uc009wqr.1	nonsynonymous SNV	exon4	c.G1602A	p.M534I	QPPVYCTSPDFKMGGASDVSTAKSP	QPPVYCTSPDFKIGGASDVSTAKSP	7.0	1.0	-	-	3903_1:155451059-155451059 C>T_QPPVYCTSPDFKIGGASDVSTAKSP
16:84691501-84691501 C>T	1.0	3903	MELANOMA	-	-	-	-	KLHL36	uc002fig.3,p.A363V|ENST00000564996,p.A363V|NM_024731,p.A363V	retained_intron, protein_coding	uc002fig.3	nonsynonymous SNV	exon3	c.C1088T	p.A363V	GGSFSRDNGGDAASNLLYRYDPRCK	GGSFSRDNGGDAVSNLLYRYDPRCK	7.0	7.0	-	-	3903_16:84691501-84691501 C>T_GGSFSRDNGGDAVSNLLYRYDPRCK
8:72987536-72987536 T>G	0.0	3903	MELANOMA	-	-	-	-	TRPA1	uc003xza.3,p.K37Q|ENST00000262209,p.K37Q|NM_007332,p.K37Q	retained_intron, protein_coding, processed_transcript	uc003xza.3	nonsynonymous SNV	exon1	c.A109C	p.K37Q	VPDDTEDFKESLKVVFEGSAYGLQN	VPDDTEDFKESLQVVFEGSAYGLQN	7.0	9.0	unscreened	-	3903_8:72987536-72987536 T>G_VPDDTEDFKESLQVVFEGSAYGLQN
3:190030811-190030811 T>A	1.0	3903	MELANOMA	-	-	-	-	CLDN1	uc003fsh.3,p.T80S|ENST00000295522,p.T80S|NM_021101,p.T80S	retained_intron, protein_coding	uc003fsh.3	nonsynonymous SNV	exon2	c.A238T	p.T80S	DSLLNLSSTLQATRALMVVGILLGV	DSLLNLSSTLQASRALMVVGILLGV	5.0	8.0	unscreened	-	3903_3:190030811-190030811 T>A_DSLLNLSSTLQASRALMVVGILLGV
16:14015933-14015933 C>T	1.0	3903	MELANOMA	-	-	-	1	ERCC4	uc010bva.3,p.P85S|ENST00000575156,p.P85S|ENST00000311895,p.P85S|uc002dce.2,p.P85S|NM_005236,p.P85S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bva.3	nonsynonymous SNV	exon2	c.C253T	p.P85S	INQLKIEGVEHLPRRVTNEITSNSR	INQLKIEGVEHLSRRVTNEITSNSR	6.0	7.0	-	-	3903_16:14015933-14015933 C>T_INQLKIEGVEHLSRRVTNEITSNSR
4:71115025-71115025 C>T	0.0	3903	MELANOMA	-	-	-	-	CSN3	uc003hfe.4,p.T133I|ENST00000304954,p.T133I|NM_005212,p.T133I	protein_coding	uc003hfe.4	nonsynonymous SNV	exon4	c.C398T	p.T133I	PPKKIQDKIIIPTINTIATVEPTPA	PPKKIQDKIIIPIINTIATVEPTPA	1.0	8.0	-	-	3903_4:71115025-71115025 C>T_PPKKIQDKIIIPIINTIATVEPTPA
2:237489293-237489293 A>G	0.0	3903	MELANOMA	-	-	-	1	ACKR3	ENST00000272928,p.N62S|NM_020311,p.N62S|uc021vys.1,p.N62S|uc010fyq.3,p.N62S|ENST00000447924,p.N62S|uc002vwd.3,p.N62S	protein_coding	uc021vys.1	nonsynonymous SNV	exon1	c.A185G	p.N62S	IYIFIFVIGMIANSVVVWVNIQAKT	IYIFIFVIGMIASSVVVWVNIQAKT	6.0	9.0	-	-	3903_2:237489293-237489293 A>G_IYIFIFVIGMIASSVVVWVNIQAKT
22:32643460-32643460 C>T	0.0	3903	MELANOMA	-	-	-	-	SLC5A4	uc003ami.3,p.E139K|ENST00000266086,p.E139K|NM_014227,p.E139K	protein_coding	uc003ami.3	nonsynonymous SNV	exon5	c.G415A	p.E139K	TMPEYLKKRFGGERLQVYLSILSLF	TMPEYLKKRFGGKRLQVYLSILSLF	1.0	6.0	-	-	3903_22:32643460-32643460 C>T_TMPEYLKKRFGGKRLQVYLSILSLF
3:124739689-124739689 G>A	1.0	3903	MELANOMA	-	-	-	-	HEG1	ENST00000311127,p.S400F|uc011bke.2,p.S400F|NM_020733,p.S400F|uc003ehs.4,p.S400F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bke.2	nonsynonymous SNV	exon4	c.C1199T	p.S400F	TGNPGDEEFIEPSTENEFGLTSLRW	TGNPGDEEFIEPFTENEFGLTSLRW	6.0	8.0	-	-	3903_3:124739689-124739689 G>A_TGNPGDEEFIEPFTENEFGLTSLRW
1:40097199-40097199 C>T	0.0	3903	MELANOMA	-	-	-	-	HEYL	uc001cdp.3,p.R67Q|ENST00000535435,p.R39Q|uc010oiw.2,p.R39Q|NM_014571,p.R67Q|ENST00000372852,p.R67Q	protein_coding	uc010oiw.2	nonsynonymous SNV	exon3	c.G116A	p.R39Q	RRDRINSSLSELRRLVPTAFEKQGS	RRDRINSSLSELQRLVPTAFEKQGS	7.0	3.0	-	-	3903_1:40097199-40097199 C>T_RRDRINSSLSELQRLVPTAFEKQGS
20:10030758-10030758 C>T	1.0	3903	MELANOMA	-	-	-	-	ANKEF1	NM_198798,p.S514L|ENST00000378380,p.S514L|NM_022096,p.S514L|ENST00000378392,p.S514L|uc010gbz.3,p.S325L|uc002wno.3,p.S514L|uc002wnp.3,p.S514L	protein_coding, processed_transcript	uc010gbz.3	nonsynonymous SNV	exon7	c.C974T	p.S325L	AGDLASLKKAFESGIPVDMKDNYYK	AGDLASLKKAFELGIPVDMKDNYYK	5.0	6.0	-	-	3903_20:10030758-10030758 C>T_AGDLASLKKAFELGIPVDMKDNYYK
3:190030810-190030810 G>T	1.0	3903	MELANOMA	-	-	-	-	CLDN1	NM_021101,p.T80N|uc003fsh.3,p.T80N|ENST00000295522,p.T80N	retained_intron, protein_coding	uc003fsh.3	nonsynonymous SNV	exon2	c.C239A	p.T80N	DSLLNLSSTLQATRALMVVGILLGV	DSLLNLSSTLQANRALMVVGILLGV	5.0	8.0	unscreened	-	3903_3:190030810-190030810 G>T_DSLLNLSSTLQANRALMVVGILLGV
21:32007751-32007751 G>A	0.0	3903	MELANOMA	-	-	-	-	KRTAP20-2	uc011adg.2,p.G57R|ENST00000330798,p.G57R|NM_181616,p.G57R	protein_coding	uc011adg.2	nonsynonymous SNV	exon1	c.G169A	p.G57R	GYGYGCCRPSCYGRYWSCGFY	GYGYGCCRPSCYRRYWSCGFY	1.0	9.0	-	-	3903_21:32007751-32007751 G>A_GYGYGCCRPSCYRRYWSCGFY
18:50918172-50918172 C>T	0.0	3903	MELANOMA	-	-	-	2	DCC	uc002lfe.2,p.S868F|ENST00000412726,p.S696F|NM_005215,p.S868F|uc010xdr.1,p.S696F|uc010dpf.2,p.S503F|ENST00000442544,p.S868F|ENST00000581580,p.S503F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xdr.1	nonsynonymous SNV	exon17	c.C2087T	p.S696F	THDAVRVSWADNSVPKNQKTSEVRL	THDAVRVSWADNFVPKNQKTSEVRL	5.0	10.0	-	-	3903_18:50918172-50918172 C>T_THDAVRVSWADNFVPKNQKTSEVRL
2:183053753-183053753 G>A	1.0	3903	MELANOMA	-	-	-	-	PDE1A	NM_001258313,p.S387F|ENST00000331935,p.S403F|ENST00000456212,p.S403F|NM_005019,p.S403F|ENST00000409365,p.S387F|ENST00000536095,p.S299F|ENST00000351439,p.S387F|ENST00000358139,p.S403F|uc010zfq.2,p.S407F|NM_001258314,p.S369F|uc002uou.4,p.S369F|ENST00000435564,p.S403F|ENST00000410103,p.S403F|NM_001003683,p.S403F|uc002uor.4,p.S387F|uc002uos.4,p.S403F|uc002uoq.2,p.S403F|NM_001258312,p.S407F|ENST00000346717,p.S369F|uc010zfp.2,p.S299F	protein_coding, processed_transcript	uc010zfq.2	nonsynonymous SNV	exon12	c.C1220T	p.S407F	QGDKEAELGLPFSPLCDRKSTMVAQ	QGDKEAELGLPFFPLCDRKSTMVAQ	7.0	4.0	-	-	3903_2:183053753-183053753 G>A_QGDKEAELGLPFFPLCDRKSTMVAQ
11:118179156-118179156 G>A	0.0	3903	MELANOMA	-	-	-	-	CD3E	ENST00000528600,p.A29T	retained_intron, protein_coding	ENST00000528600	nonsynonymous SNV	exon3	c.G85A	p.A29T	VGVWGQDGNEEMAYKVSISGTTVIL	VGVWGQDGNEEMTYKVSISGTTVIL	10.0	3.0	unscreened	-	3903_11:118179156-118179156 G>A_VGVWGQDGNEEMTYKVSISGTTVIL
3:49463807-49463807 G>A	1.0	3903	MELANOMA	-	-	-	-	NICN1	uc003cwz.1,p.R63C|ENST00000273598,p.R63C|NM_032316,p.R63C|ENST00000423832,p.R63C|ENST00000436744,p.R63C|uc011bcr.2,p.R63C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bcr.2	nonsynonymous SNV	exon2	c.C187T	p.R63C	KNYYTAFLSIRVRQYTSAHTPAKWV	KNYYTAFLSIRVCQYTSAHTPAKWV	6.0	8.0	-	-	3903_3:49463807-49463807 G>A_KNYYTAFLSIRVCQYTSAHTPAKWV
17:7011831-7011831 C>T	0.0	3903	MELANOMA	-	-	-	-	ASGR2	ENST00000254850,p.S77N|uc010clw.2,p.S77N|NM_080914,p.S82N|ENST00000380952,p.S101N|uc002geq.3,p.S77N|NM_001181,p.S101N|NM_080913,p.S77N|uc002ger.3,p.S101N|NM_080912,p.S101N|NM_001201352,p.S96N|ENST00000355035,p.S101N|uc002gen.1,p.S82N|uc002geo.2,p.S96N|ENST00000446679,p.S82N|uc002gep.3,p.S101N|ENST00000574868,p.S96N	retained_intron, protein_coding, nonsense_mediated_decay	uc010clw.2	nonsynonymous SNV	exon4	c.G230A	p.S77N	LQAELRSLKEAFSNFSSSTLTEVQA	LQAELRSLKEAFNNFSSSTLTEVQA	6.0	9.0	-	-	3903_17:7011831-7011831 C>T_LQAELRSLKEAFNNFSSSTLTEVQA
1:159683902-159683902 G>A	0.0	3903	MELANOMA	-	-	ID=COSM675943;OCCURENCE=1(lung)	-	CRP	NM_000567,p.P30S|ENST00000255030,p.P30S|ENST00000343919,p.P30S|uc001ftw.3,p.P30S|ENST00000368112,p.P30S|ENST00000368110,p.P30S|uc001ftx.1,p.P30S|ENST00000368111,p.P30S	protein_coding, processed_transcript	uc001ftx.1	nonsynonymous SNV	exon2	c.C88T	p.P30S	GQTDMSRKAFVFPKESDTSYVSLKA	GQTDMSRKAFVFSKESDTSYVSLKA	6.0	3.0	-	-	3903_1:159683902-159683902 G>A_GQTDMSRKAFVFSKESDTSYVSLKA
17:79863265-79863265 G>A	1.0	3903	MELANOMA	-	-	-	-	PCYT2	ENST00000576343,p.P267L|uc010wvc.2,p.P243L|uc010wvb.2,p.P289L|uc031rex.1,p.P267L|NM_001256433,p.P267L|NM_001282203,p.P243L|NM_001282204,p.P289L|NM_001256435,p.P243L|NM_001184917,p.P339L|uc002kcf.2,p.P321L|ENST00000570391,p.P289L|uc002kce.2,p.P243L|NM_001256434,p.P280L|ENST00000538936,p.P321L|ENST00000538721,p.P339L|ENST00000331285,p.P243L|uc002kci.2,p.P280L|uc002kch.2,p.P339L|NM_002861,p.P321L|ENST00000570388,p.P243L	retained_intron, protein_coding, nonsense_mediated_decay	uc031rex.1	nonsynonymous SNV	exon10	c.C800T	p.P267L	KTEIIPDRDGSDPYQEPKRRGIFRQ	KTEIIPDRDGSDLYQEPKRRGIFRQ	9.0	5.0	-	-	3903_17:79863265-79863265 G>A_KTEIIPDRDGSDLYQEPKRRGIFRQ
1:161954672-161954672 C>T	0.0	3903	MELANOMA	-	-	-	-	OLFML2B	ENST00000367940,p.D526N|NM_001297713,p.D526N|uc010pkq.2,p.D526N|ENST00000294794,p.D525N|NM_015441,p.D525N|uc001gbu.3,p.D525N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010pkq.2	nonsynonymous SNV	exon7	c.G1576A	p.D526N	NEGAWMKDPLAKDERIYVTNYYYGN	NEGAWMKDPLAKNERIYVTNYYYGN	7.0	1.0	-	-	3903_1:161954672-161954672 C>T_NEGAWMKDPLAKNERIYVTNYYYGN
16:68225642-68225642 G>A	1.0	3903	MELANOMA	-	-	-	-	NFATC3	uc010vkn.2,p.A545T|NM_173163,p.A1024T|uc010vkp.2,p.A545T|ENST00000349223,p.A1024T|ENST00000329524,p.A1024T|NM_004555,p.A1024T|uc002evn.2,p.A1024T|uc002evm.2,p.A1024T|uc010vkz.2,p.A545T|uc010vkt.2,p.A545T|uc010vkw.2,p.A545T|uc010vlc.2,p.A545T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vlc.2	nonsynonymous SNV	exon9	c.G1633A	p.A545T	IKPEPEDREPNFATIGLQDITLDDD	IKPEPEDREPNFTTIGLQDITLDDD	7.0	7.0	unscreened	-	3903_16:68225642-68225642 G>A_IKPEPEDREPNFTTIGLQDITLDDD
19:11596539-11596539 G>A	1.0	3903	MELANOMA	-	-	-	-	ZNF653	ENST00000293771,p.P501L|uc002mrz.2,p.P501L|NM_138783,p.P501L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mrz.2	nonsynonymous SNV	exon7	c.C1502T	p.P501L	NLVHRKGKTKVCPHPGCGKKFYLSN	NLVHRKGKTKVCLHPGCGKKFYLSN	6.0	8.0	unscreened	-	3903_19:11596539-11596539 G>A_NLVHRKGKTKVCLHPGCGKKFYLSN
14:96730546-96730546 G>A	0.0	3903	MELANOMA	-	-	-	-	BDKRB1	uc001yfh.3,p.R176Q|ENST00000216629,p.R176Q|ENST00000553356,p.R176Q|NM_000710,p.R176Q|uc021sbj.1,p.R176Q	protein_coding, processed_transcript	uc021sbj.1	nonsynonymous SNV	exon1	c.G527A	p.R176Q	VGGLLSIPTFLLRSIQAVPDLNITA	VGGLLSIPTFLLQSIQAVPDLNITA	1.0	8.0	-	-	3903_14:96730546-96730546 G>A_VGGLLSIPTFLLQSIQAVPDLNITA
14:19377649-19377649 C>T	0.0	3903	MELANOMA	-	-	-	-	OR11H12	uc010tkp.2,p.S19F|ENST00000550708,p.S19F|NM_001013354,p.S19F	protein_coding	uc010tkp.2	nonsynonymous SNV	exon1	c.C56T	p.S19F	QVTGLMNVSEPNSSFAFVNEFILQG	QVTGLMNVSEPNFSFAFVNEFILQG	1.0	3.0	unscreened	-	3903_14:19377649-19377649 C>T_QVTGLMNVSEPNFSFAFVNEFILQG
16:68225642-68225642 G>A	1.0	3903	MELANOMA	-	-	-	-	NFATC3	uc002evl.3,p.A545T|uc010vkx.2,p.A545T|uc002evk.3,p.A1024T|ENST00000575270,p.A1024T|uc010vkl.2,p.A545T|uc010vkr.2,p.A545T|uc010vla.2,p.A545T|uc010vku.2,p.A545T|uc010vko.2,p.A545T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vla.2	nonsynonymous SNV	exon9	c.G1633A	p.A545T	IKPEPEDREPNFATIGLQDITLDDG	IKPEPEDREPNFTTIGLQDITLDDG	7.0	7.0	unscreened	-	3903_16:68225642-68225642 G>A_IKPEPEDREPNFTTIGLQDITLDDG
19:16000397-16000397 C>T	0.0	3903	MELANOMA	-	-	-	-	CYP4F2	uc002nbs.1,p.D252N|uc010xot.1,p.D103N|NM_001082,p.D252N|ENST00000221700,p.D252N|ENST00000011989,p.D103N|ENST00000592328,p.D252N|uc010xou.1,p.D103N	retained_intron, protein_coding, nonsense_mediated_decay	uc010xou.1	nonsynonymous SNV	exon6	c.G307A	p.D103N	LLHIDFLYYLTPDGQRFRRACRLVH	LLHIDFLYYLTPNGQRFRRACRLVH	3.0	2.0	-	-	3903_19:16000397-16000397 C>T_LLHIDFLYYLTPNGQRFRRACRLVH
14:101350210-101350210 C>T	0.0	3903	MELANOMA	-	-	-	-	RTL1	uc010txj.1,p.D306N|NM_001134888,p.D306N|ENST00000534062,p.D306N	protein_coding	uc010txj.1	nonsynonymous SNV	exon1	c.G916A	p.D306N	IRQGGRSATEYIDEFQSLVPILGWP	IRQGGRSATEYINEFQSLVPILGWP	1.0	1.0	unscreened	-	3903_14:101350210-101350210 C>T_IRQGGRSATEYINEFQSLVPILGWP
5:101813455-101813455 C>T	0.0	3903	MELANOMA	-	-	-	-	SLCO6A1	uc003knn.3,p.G243R|NM_173488,p.G243R|ENST00000506729,p.G243R|NM_001289002,p.G243R|ENST00000379807,p.G243R|uc003knp.3,p.G243R	retained_intron, protein_coding, processed_transcript	uc003knp.3	nonsynonymous SNV	exon3	c.G727A	p.G243R	FFILGQTVQGIAGMPLYILGITFID	FFILGQTVQGIARMPLYILGITFID	2.0	2.0	-	-	3903_5:101813455-101813455 C>T_FFILGQTVQGIARMPLYILGITFID
7:141464787-141464787 C>T	0.0	3903	MELANOMA	-	-	ID=COSM1699455;OCCURENCE=1(skin)	-	TAS2R3	uc003vwp.1,p.P277S|NM_016943,p.P277S|ENST00000247879,p.P277S	protein_coding	uc003vwp.1	nonsynonymous SNV	exon1	c.C829T	p.P277S	AKMIGEVMTMFYPAGHSFILILGNS	AKMIGEVMTMFYSAGHSFILILGNS	1.0	3.0	-	-	3903_7:141464787-141464787 C>T_AKMIGEVMTMFYSAGHSFILILGNS
16:68225642-68225642 G>A	1.0	3903	MELANOMA	-	-	-	-	NFATC3	uc002evo.2,p.A1024T|uc010vkv.2,p.A545T|uc010vlb.2,p.A545T|uc010vkm.2,p.A545T|ENST00000346183,p.A1024T|uc010vkq.2,p.A545T|uc010vks.2,p.A545T|uc010vky.2,p.A545T|NM_173165,p.A1024T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vlb.2	nonsynonymous SNV	exon9	c.G1633A	p.A545T	IKPEPEDREPNFATIGLQDITLDDV	IKPEPEDREPNFTTIGLQDITLDDV	7.0	7.0	-	-	3903_16:68225642-68225642 G>A_IKPEPEDREPNFTTIGLQDITLDDV
16:48149423-48149423 G>A	0.0	3903	MELANOMA	-	-	-	-	ABCC12	uc002efc.1,p.S631L|ENST00000529504,p.S631L|NM_033226,p.S631L|ENST00000311303,p.S631L|ENST00000532494,p.S631L|ENST00000534418,p.S573L|ENST00000497206,p.S631L|ENST00000448542,p.S631L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002efc.1	nonsynonymous SNV	exon13	c.C1892T	p.S631L	SDRQLYLLDDPLSAVDAHVGKHVFE	SDRQLYLLDDPLLAVDAHVGKHVFE	1.0	6.0	-	-	3903_16:48149423-48149423 G>A_SDRQLYLLDDPLLAVDAHVGKHVFE
12:55356516-55356516 G>A	0.0	3903	MELANOMA	-	-	-	-	TESPA1	ENST00000532804,p.P251L|uc010spd.2,p.P389L|uc010spb.2,p.P136L|ENST00000524622,p.P251L|NM_001136030,p.P389L|NM_001098815,p.P389L|ENST00000531122,p.P251L|uc001sgl.4,p.P251L|NM_001261844,p.P251L|uc010spc.2,p.P251L|uc001sgn.4,p.P389L|ENST00000449076,p.P389L|NM_014796,p.P251L|ENST00000316577,p.P389L|uc001sgm.4,p.P136L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010spd.2	nonsynonymous SNV	exon9	c.C1166T	p.P389L	APSQTLDSNPKVPCCTHSLPIEDPQ	APSQTLDSNPKVLCCTHSLPIEDPQ	6.0	9.0	unscreened	-	3903_12:55356516-55356516 G>A_APSQTLDSNPKVLCCTHSLPIEDPQ
1:159284212-159284212 G>A	0.0	3903	MELANOMA	-	-	ID=COSM1688897;OCCURENCE=1(skin)	-	OR10J3	NM_001004467,p.P80S|uc010piu.2,p.P80S|ENST00000332217,p.P80S	protein_coding	uc010piu.2	nonsynonymous SNV	exon1	c.C238T	p.P80S	SISETCYTVAIIPHMLSGLLNPHQP	SISETCYTVAIISHMLSGLLNPHQP	1.0	4.0	unscreened	-	3903_1:159284212-159284212 G>A_SISETCYTVAIISHMLSGLLNPHQP
9:104432505-104432505 C>T	0.0	3903	MELANOMA	-	-	-	-	GRIN3A	NM_133445,p.R730K|uc004bbp.2,p.R730K|ENST00000361820,p.R730K|uc004bbq.1,p.R730K	protein_coding, processed_transcript	uc004bbq.1	nonsynonymous SNV	exon3	c.G2189A	p.R730K	SALNICYALLFGRTVAIKPPKCWTG	SALNICYALLFGKTVAIKPPKCWTG	3.0	10.0	-	-	3903_9:104432505-104432505 C>T_SALNICYALLFGKTVAIKPPKCWTG
19:39362489-39362489 T>C	0.0	3903	MELANOMA	-	-	-	-	RINL	uc010xuo.2,p.N112S|NM_001195833,p.N112S|ENST00000591812,p.N112S	retained_intron, protein_coding, processed_transcript	uc010xuo.2	nonsynonymous SNV	exon5	c.A335G	p.N112S	QKIPRGVSLESSNLCMPDLPHLLAF	QKIPRGVSLESSSLCMPDLPHLLAF	6.0	7.0	unscreened	-	3903_19:39362489-39362489 T>C_QKIPRGVSLESSSLCMPDLPHLLAF
6:43184164-43184164 C>T	1.0	3903	MELANOMA	-	-	-	-	CUL9	ENST00000354495,p.H1959Y|uc003oul.3,p.H2041Y|uc010jyk.3,p.H1221Y|ENST00000252050,p.H2069Y|uc003ouk.3,p.H2069Y|ENST00000372647,p.H2041Y|NM_015089,p.H2069Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jyk.3	nonsynonymous SNV	exon30	c.C3661T	p.H1221Y	VHQAQAVPVRPDHCPVCVSPLGCDD	VHQAQAVPVRPDYCPVCVSPLGCDD	8.0	9.0	-	-	3903_6:43184164-43184164 C>T_VHQAQAVPVRPDYCPVCVSPLGCDD
11:26582766-26582766 C>T	1.0	3903	MELANOMA	-	-	-	-	MUC15	ENST00000527569,p.R261Q|uc001mqy.3,p.R261Q|NM_001135092,p.R261Q|ENST00000281268,p.R261Q	protein_coding	uc001mqy.3	nonsynonymous SNV	exon4	c.G782A	p.R261Q	LFPNTSDPQKVLRLDNAPEPYDVSF	LFPNTSDPQKVLQLDNAPEPYDVSF	9.0	2.0	unscreened	-	3903_11:26582766-26582766 C>T_LFPNTSDPQKVLQLDNAPEPYDVSF
11:4936551-4936551 G>A	0.0	3903	MELANOMA	-	-	-	-	OR51G2	NM_001005238,p.L115F|ENST00000322013,p.L115F|uc001lzr.1,p.L115F	protein_coding	uc001lzr.1	nonsynonymous SNV	exon1	c.C343T	p.L115F	FAQLFFIHCFSFLESSVLLSMAFDR	FAQLFFIHCFSFFESSVLLSMAFDR	1.0	4.0	-	-	3903_11:4936551-4936551 G>A_FAQLFFIHCFSFFESSVLLSMAFDR
12:55356517-55356517 G>A	0.0	3903	MELANOMA	0.0046	-	-	-	TESPA1	uc010spd.2,p.P389S|ENST00000531122,p.P251S|uc010spc.2,p.P251S|uc001sgm.4,p.P136S|ENST00000316577,p.P389S|ENST00000532804,p.P251S|uc001sgn.4,p.P389S|uc010spb.2,p.P136S|NM_001261844,p.P251S|ENST00000449076,p.P389S|ENST00000524622,p.P251S|uc001sgl.4,p.P251S|NM_001098815,p.P389S|NM_001136030,p.P389S|NM_014796,p.P251S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010spd.2	nonsynonymous SNV	exon9	c.C1165T	p.P389S	APSQTLDSNPKVPCCTHSLPIEDPQ	APSQTLDSNPKVSCCTHSLPIEDPQ	6.0	9.0	unscreened	-	3903_12:55356517-55356517 G>A_APSQTLDSNPKVSCCTHSLPIEDPQ
7:65338491-65338491 G>A	1.0	3903	MELANOMA	-	-	-	-	VKORC1L1	NM_173517,p.E45K|ENST00000360768,p.E45K|uc011kds.2,p.E45K|ENST00000434382,p.E45K|uc003tul.3,p.E45K|NM_001284342,p.E45K	protein_coding	uc011kds.2	nonsynonymous SNV	exon1	c.G133A	p.E45K	AYHVEREKERDPEHRALCDLGPWVK	AYHVEREKERDPKHRALCDLGPWVK	8.0	3.0	-	-	3903_7:65338491-65338491 G>A_AYHVEREKERDPKHRALCDLGPWVK
2:185803062-185803062 C>T	0.0	3903	MELANOMA	-	-	-	-	ZNF804A	uc002uph.3,p.P980L|ENST00000302277,p.P980L|NM_194250,p.P980L	protein_coding	uc002uph.3	nonsynonymous SNV	exon4	c.C2939T	p.P980L	SYLCHYELAEALPQGKMNETPTEWL	SYLCHYELAEALLQGKMNETPTEWL	2.0	3.0	-	-	3903_2:185803062-185803062 C>T_SYLCHYELAEALLQGKMNETPTEWL
8:102631887-102631887 C>T	0.0	3903	MELANOMA	-	-	-	-	GRHL2	ENST00000395927,p.H391Y|ENST00000251808,p.H407Y|NM_024915,p.H407Y|uc010mbu.3,p.H407Y	retained_intron, protein_coding, processed_transcript	uc010mbu.3	nonsynonymous SNV	exon9	c.C1219T	p.H407Y	TYSYNNRSNKPIHRAYCQIKVFCDK	TYSYNNRSNKPIYRAYCQIKVFCDK	1.0	5.0	-	-	3903_8:102631887-102631887 C>T_TYSYNNRSNKPIYRAYCQIKVFCDK
4:113565887-113565889 AAG>-	1.0	3903	MELANOMA	-	-	-	-	LARP7	ENST00000509622,p.21_22del|ENST00000505216,p.21_22del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000509622	nonframeshift deletion	exon2	c.62_64del	p.21_22del	EKVMEEESTEKKKEVEKKKRSRVKQ	EKVMEEESTEKKKVEKKKRSRVKQM	9.0	5.0	unscreened	-	3903_4:113565887-113565889 AAG>-_EKVMEEESTEKKKVEKKKRSRVKQM
12:55524070-55524070 C>T	0.0	3903	MELANOMA	-	-	-	-	OR9K2	uc010spe.2,p.S173F|ENST00000305377,p.S173F|NM_001005243,p.S173F	protein_coding	uc010spe.2	nonsynonymous SNV	exon1	c.C518T	p.S173F	MSTRLCTQLVAGSYFCGCISSVIQT	MSTRLCTQLVAGFYFCGCISSVIQT	1.0	3.0	-	-	3903_12:55524070-55524070 C>T_MSTRLCTQLVAGFYFCGCISSVIQT
3:97851849-97851849 C>T	0.0	3903	MELANOMA	-	-	ID=COSM137858;OCCURENCE=1(skin)	-	OR5H1	uc011bgt.2,p.S103L|ENST00000354565,p.S103L|NM_001005338,p.S103L	protein_coding	uc011bgt.2	nonsynonymous SNV	exon1	c.C308T	p.S103L	MISLSECKIQFFSFAISVTTECFLL	MISLSECKIQFFLFAISVTTECFLL	1.0	4.0	unscreened	-	3903_3:97851849-97851849 C>T_MISLSECKIQFFLFAISVTTECFLL
4:164393478-164393478 C>T	0.0	3903	MELANOMA	-	-	-	-	TKTL2	NM_032136,p.G470E|uc003iqp.4,p.G470E|ENST00000280605,p.G470E	protein_coding	uc003iqp.4	nonsynonymous SNV	exon1	c.G1409A	p.G470E	TEHAIYLAANTKGMCFIRTSQPETA	TEHAIYLAANTKEMCFIRTSQPETA	1.0	1.0	-	-	3903_4:164393478-164393478 C>T_TEHAIYLAANTKEMCFIRTSQPETA
11:58602195-58602195 C>T	0.0	3903	MELANOMA	-	-	-	-	GLYATL2	ENST00000532258,p.D198N|ENST00000287275,p.D198N|uc001nnd.4,p.D198N|uc009ymq.3,p.D198N|NM_145016,p.D198N	protein_coding, processed_transcript	uc009ymq.3	nonsynonymous SNV	exon7	c.G592A	p.D198N	ERSLKYIERCLQDFLGFGVLGPEGQ	ERSLKYIERCLQNFLGFGVLGPEGQ	1.0	4.0	-	-	3903_11:58602195-58602195 C>T_ERSLKYIERCLQNFLGFGVLGPEGQ
5:21752012-21752012 G>A	0.0	3903	MELANOMA	-	-	-	-	CDH12	ENST00000522262,p.A700V|uc010iuc.2,p.A740V|uc003jgk.2,p.A740V|ENST00000382254,p.A740V|uc011cno.1,p.A700V|NM_004061,p.A740V|ENST00000504376,p.A740V	retained_intron, protein_coding, processed_transcript	uc011cno.1	nonsynonymous SNV	exon12	c.C2099T	p.A700V	PTAPPYDSLATYAYEGSGSVAESLS	PTAPPYDSLATYVYEGSGSVAESLS	1.0	9.0	-	-	3903_5:21752012-21752012 G>A_PTAPPYDSLATYVYEGSGSVAESLS
12:51074541-51074541 G>A	1.0	3903	MELANOMA	-	-	-	-	DIP2B	ENST00000301180,p.D401N|uc001rwv.3,p.D401N|NM_173602,p.D401N	retained_intron, protein_coding, nonsense_mediated_decay	uc001rwv.3	nonsynonymous SNV	exon9	c.G1201A	p.D401N	LGTKNEPVLKPGDRVALVYPNNDPV	LGTKNEPVLKPGNRVALVYPNNDPV	8.0	2.0	-	-	3903_12:51074541-51074541 G>A_LGTKNEPVLKPGNRVALVYPNNDPV
19:13067960-13067960 G>A	1.0	3903	MELANOMA	-	-	-	-	GADD45GIP1	uc002mwb.4,p.R23C|ENST00000316939,p.R23C|NM_052850,p.R23C	protein_coding	uc002mwb.4	nonsynonymous SNV	exon1	c.C67T	p.R23C	LLGVAATLAPGSRGYRARPPPRRRP	LLGVAATLAPGSCGYRARPPPRRRP	10.0	9.0	-	-	3903_19:13067960-13067960 G>A_LLGVAATLAPGSCGYRARPPPRRRP
14:92622947-92622947 A>G	1.0	3903	MELANOMA	-	-	-	-	CPSF2	NM_017437,p.I523V|uc001yah.2,p.I523V|ENST00000298875,p.I523V	retained_intron, protein_coding, nonsense_mediated_decay	uc001yah.2	nonsynonymous SNV	exon12	c.A1567G	p.I523V	MDQDLSDVPTKCISTTESIEIKARV	MDQDLSDVPTKCVSTTESIEIKARV	8.0	3.0	-	-	3903_14:92622947-92622947 A>G_MDQDLSDVPTKCVSTTESIEIKARV
7:102105175-102105175 C>T	1.0	3903	MELANOMA	-	-	-	-	ALKBH4	ENST00000490528,p.E37K	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000490528	nonsynonymous SNV	exon1	c.G109A	p.E37K	ICERQRGSDPPWELPPAE	ICERQRGSDPPWKLPPAE	7.0	10.0	unscreened	-	3903_7:102105175-102105175 C>T_ICERQRGSDPPWKLPPAE
20:2582813-2582813 A>G	0.0	3903	MELANOMA	-	-	-	-	TMC2	ENST00000358864,p.R427G|uc002wgf.1,p.R427G|uc010zpw.1,p.R259G|uc002wgg.1,p.R411G|uc010zpx.1,p.R258G|NM_080751,p.R427G	protein_coding, processed_transcript	uc010zpx.1	nonsynonymous SNV	exon9	c.A772G	p.R258G	QESNKEENIHLTRFLRVLANFLIIC	QESNKEENIHLTGFLRVLANFLIIC	1.0	6.0	-	-	3903_20:2582813-2582813 A>G_QESNKEENIHLTGFLRVLANFLIIC
13:39265034-39265034 C>T	1.0	3903	MELANOMA	-	-	-	-	FREM2	NM_207361,p.P1185S|ENST00000280481,p.P1185S|uc001uwv.3,p.P1185S	protein_coding, processed_transcript	uc001uwv.3	nonsynonymous SNV	exon1	c.C3553T	p.P1185S	FSERQFFPIVIIPTNDEQPEMFMRE	FSERQFFPIVIISTNDEQPEMFMRE	5.0	7.0	-	-	3903_13:39265034-39265034 C>T_FSERQFFPIVIISTNDEQPEMFMRE
6:170176145-170176145 C>T	1.0	3903	MELANOMA	-	-	-	-	ERMARD	uc003qxg.1,p.R502C|uc011ehb.1,p.R376C|ENST00000392095,p.R376C|ENST00000366773,p.R502C|NM_018341,p.R502C|uc003qxi.1,p.R150C|ENST00000588451,p.R366C|NM_001278532,p.R376C	retained_intron, protein_coding, nonsense_mediated_decay	uc011ehb.1	nonsynonymous SNV	exon14	c.C1126T	p.R376C	MPENRCVLKDLDRLPTETWPQLLRE	MPENRCVLKDLDCLPTETWPQLLRE	7.0	6.0	-	-	3903_6:170176145-170176145 C>T_MPENRCVLKDLDCLPTETWPQLLRE
1:159284211-159284211 G>A	0.0	3903	MELANOMA	-	-	ID=COSM1688896;OCCURENCE=1(skin)	-	OR10J3	uc010piu.2,p.P80L|NM_001004467,p.P80L|ENST00000332217,p.P80L	protein_coding	uc010piu.2	nonsynonymous SNV	exon1	c.C239T	p.P80L	SISETCYTVAIIPHMLSGLLNPHQP	SISETCYTVAIILHMLSGLLNPHQP	1.0	4.0	unscreened	-	3903_1:159284211-159284211 G>A_SISETCYTVAIILHMLSGLLNPHQP
7:100551602-100551602 C>T	0.0	3903	MELANOMA	-	-	ID=COSM1722922,COSM1722921;OCCURENCE=2(NS)	-	MUC3A	uc003uxl.1,p.S18F|ENST00000319509,p.S118F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxl.1	nonsynonymous SNV	exon1	c.C53T	p.S18F	MTLRITENTPISSFSTSIVVIPETP	MTLRITENTPISFFSTSIVVIPETP	3.0	1.0	-	-	3903_7:100551602-100551602 C>T_MTLRITENTPISFFSTSIVVIPETP
2:242438534-242438534 G>A	1.0	3903	MELANOMA	-	-	-	-	STK25	NM_006374,p.P214L|NM_001282306,p.P140L|uc002wbp.4,p.P214L|ENST00000316586,p.P214L|ENST00000450497,p.P120L|uc002wbm.4,p.P214L|ENST00000543554,p.P120L|NM_001282305,p.P120L|NM_001271980,p.P137L|ENST00000401869,p.P214L|ENST00000405883,p.P137L|uc002wbl.3,p.P33L|uc002wbo.4,p.P137L|ENST00000442307,p.P120L|ENST00000403346,p.P214L|uc010zos.3,p.P120L|NM_001271978,p.P214L|NM_001271977,p.P214L|uc010zov.3,p.P120L|NM_001282308,p.P120L|ENST00000405585,p.P137L|ENST00000424537,p.P118L|uc010zot.3,p.P140L|uc010zou.3,p.P120L|uc010fzo.4,p.P137L|uc002wbn.4,p.P214L|NM_001282307,p.P120L|NM_001271979,p.P137L|ENST00000535007,p.P120L|ENST00000413760,p.P120L	retained_intron, protein_coding, processed_transcript	uc010zov.3	nonsynonymous SNV	exon6	c.C359T	p.P120L	GITAIELAKGEPPNSDLHPMRVLFL	GITAIELAKGEPLNSDLHPMRVLFL	10.0	3.0	-	-	3903_2:242438534-242438534 G>A_GITAIELAKGEPLNSDLHPMRVLFL
11:94129687-94129687 G>A	0.0	3903	MELANOMA	-	-	-	-	GPR83	uc001pet.2,p.R131C|NM_016540,p.R131C|ENST00000243673,p.R131C	protein_coding	uc001pet.2	nonsynonymous SNV	exon2	c.C391T	p.R131C	MITLLNTPFTLVRFVNSTWIFGKGM	MITLLNTPFTLVCFVNSTWIFGKGM	1.0	9.0	unscreened	-	3903_11:94129687-94129687 G>A_MITLLNTPFTLVCFVNSTWIFGKGM
4:25005702-25005702 C>T	0.0	3903	MELANOMA	-	-	-	-	LGI2	ENST00000382114,p.E337K|NM_018176,p.E337K|uc003grf.2,p.E337K	protein_coding	uc003grf.2	nonsynonymous SNV	exon8	c.G1009A	p.E337K	KPNDIELFQIDDETFFVIADSSKAG	KPNDIELFQIDDKTFFVIADSSKAG	3.0	6.0	-	-	3903_4:25005702-25005702 C>T_KPNDIELFQIDDKTFFVIADSSKAG
19:57325872-57325872 G>A	0.0	3903	MELANOMA	-	-	-	-	PEG3	ENST00000598410,p.S1189F|uc010etr.2,p.S1313F|ENST00000423103,p.S1313F|NM_001146185,p.S1187F|uc002qnv.2,p.S1313F|ENST00000593695,p.S1187F|ENST00000326441,p.S1313F|NM_006210,p.S1313F|uc002qnw.2,p.S1189F|NM_001146187,p.S1189F|uc002qnu.2,p.S1313F|ENST00000599577,p.S1313F|NM_001146184,p.S1313F|uc002qnt.2,p.S1284F|ENST00000599534,p.S1313F|NM_001146186,p.S1313F|uc002qnx.2,p.S1187F	protein_coding, processed_transcript	uc010etr.2	nonsynonymous SNV	exon9	c.C3938T	p.S1313F	VTVHKNEPYEYGSSYTHTSFLTEPL	VTVHKNEPYEYGFSYTHTSFLTEPL	1.0	4.0	-	-	3903_19:57325872-57325872 G>A_VTVHKNEPYEYGFSYTHTSFLTEPL
18:44555231-44555231 G>A	0.0	3903	MELANOMA	-	-	-	-	TCEB3C,TCEB3CL	ENST00000330682,p.P328L|NM_001100817,p.P328L|uc010xdb.2,p.P328L|NM_145653,p.P328L	protein_coding	uc010xdb.2	nonsynonymous SNV	exon1	c.C983T	p.P328L	VNAKMPVYSGSRPACQLQVPTLRQQ	VNAKMPVYSGSRLACQLQVPTLRQQ	1.0	1.0	unscreened	-	3903_18:44555231-44555231 G>A_VNAKMPVYSGSRLACQLQVPTLRQQ
14:93943989-93943989 G>A	0.0	3903	MELANOMA	-	-	-	-	UNC79	ENST00000393151,p.M178I|ENST00000555664,p.M178I|ENST00000553484,p.M178I	retained_intron, protein_coding	ENST00000555664	nonsynonymous SNV	exon4	c.G534A	p.M178I	LNDDILSTLPYTMISTLATFPPFLH	LNDDILSTLPYTIISTLATFPPFLH	1.0	3.0	-	-	3903_14:93943989-93943989 G>A_LNDDILSTLPYTIISTLATFPPFLH
7:12414647-12414647 C>T	0.0	3903	MELANOMA	-	-	-	-	VWDE	ENST00000452576,p.D411N|NM_001135924,p.D411N|ENST00000275358,p.D411N|uc003ssj.2,p.D411N	retained_intron, protein_coding, nonsense_mediated_decay	uc003ssj.2	nonsynonymous SNV	exon8	c.G1231A	p.D411N	VNEDFLWNNYIPDSIQIKVKDVPTA	VNEDFLWNNYIPNSIQIKVKDVPTA	2.0	1.0	-	-	3903_7:12414647-12414647 C>T_VNEDFLWNNYIPNSIQIKVKDVPTA
12:129566494-129566494 C>T	0.0	3903	MELANOMA	-	-	ID=COSM1360039;OCCURENCE=1(large_intestine)	-	TMEM132D	NM_133448,p.R578Q|uc001uia.2,p.R116Q|ENST00000389441,p.R116Q|ENST00000422113,p.R578Q|uc009zyl.1,p.R578Q	protein_coding	uc009zyl.1	nonsynonymous SNV	exon7	c.G1733A	p.R578Q	RGCTLQYQHAMVRVLTQFVAEAAGP	RGCTLQYQHAMVQVLTQFVAEAAGP	1.0	5.0	unscreened	-	3903_12:129566494-129566494 C>T_RGCTLQYQHAMVQVLTQFVAEAAGP
10:15256395-15256395 G>A	0.0	3903	MELANOMA	-	-	-	-	FAM171A1	ENST00000378116,p.H398Y|NM_001010924,p.H398Y|uc001iob.3,p.H398Y	protein_coding, processed_transcript	uc001iob.3	nonsynonymous SNV	exon8	c.C1192T	p.H398Y	EAPGTKELMSGVHLEMMSPGGEGDL	EAPGTKELMSGVYLEMMSPGGEGDL	4.0	9.0	-	-	3903_10:15256395-15256395 G>A_EAPGTKELMSGVYLEMMSPGGEGDL
12:124377780-124377780 G>A	0.0	3903	MELANOMA	-	-	-	-	DNAH10	uc001uft.4,p.G2881E|ENST00000409039,p.G2881E|NM_207437,p.G2881E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uft.4	nonsynonymous SNV	exon52	c.G8642A	p.G2881E	GFLELINNMLTSGIVPALFSEEEKE	GFLELINNMLTSEIVPALFSEEEKE	4.0	2.0	-	-	3903_12:124377780-124377780 G>A_GFLELINNMLTSEIVPALFSEEEKE
22:21990826-21990826 G>A	0.0	3903	MELANOMA	-	-	-	-	CCDC116	uc002zve.3,p.D437N|ENST00000292779,p.D437N|NM_152612,p.D437N	protein_coding	uc002zve.3	nonsynonymous SNV	exon5	c.G1309A	p.D437N	SHFSNRLYEELADFLTQQAASLVIR	SHFSNRLYEELANFLTQQAASLVIR	2.0	9.0	-	-	3903_22:21990826-21990826 G>A_SHFSNRLYEELANFLTQQAASLVIR
2:182766643-182766643 G>A	1.0	3903	MELANOMA	-	-	-	-	SSFA2	NM_001287504,p.R135Q|uc002uoh.3,p.R288Q|uc002uoi.3,p.R288Q|NM_001287503,p.R288Q|ENST00000409001,p.R288Q|uc002uoj.3,p.R288Q|uc010zfo.2,p.R135Q|ENST00000320370,p.R288Q|ENST00000428267,p.R135Q|NM_001130445,p.R288Q|uc002uol.3,p.R135Q|ENST00000431877,p.R288Q|NM_006751,p.R288Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zfo.2	nonsynonymous SNV	exon7	c.G404A	p.R135Q	SNKETDPPPPLTRSNTANRLMKTLS	SNKETDPPPPLTQSNTANRLMKTLS	10.0	7.0	-	-	3903_2:182766643-182766643 G>A_SNKETDPPPPLTQSNTANRLMKTLS
6:131211548-131211548 G>A	1.0	3903	MELANOMA	-	-	-	-	EPB41L2	uc003qci.3,p.R516C|ENST00000445890,p.R516C|NM_001135555,p.R516C|ENST00000525193,p.R516C|uc003qch.2,p.R516C|NM_001431,p.R516C|NM_001199388,p.R516C|NM_001135554,p.R516C|ENST00000529208,p.R516C|uc003qcg.1,p.R516C|ENST00000530481,p.R516C|uc010kfl.2,p.R516C|ENST00000527659,p.R516C|uc010kfk.2,p.R516C|uc011eby.2,p.R516C|ENST00000525271,p.R516C|ENST00000337057,p.R516C|ENST00000392427,p.R516C|ENST00000528282,p.R516C|NM_001252660,p.R516C|ENST00000527411,p.R516C|ENST00000368128,p.R516C	retained_intron, protein_coding, processed_transcript	uc011eby.2	nonsynonymous SNV	exon11	c.C1546T	p.R516C	PKAKFLTLGSKFRYSGRTQAQTRQA	PKAKFLTLGSKFCYSGRTQAQTRQA	9.0	9.0	-	-	3903_6:131211548-131211548 G>A_PKAKFLTLGSKFCYSGRTQAQTRQA
4:47938625-47938625 C>T	0.0	3903	MELANOMA	-	-	-	-	CNGA1	ENST00000402813,p.R698Q|ENST00000358519,p.R629Q|NM_000087,p.R629Q|uc003gxu.3,p.R698Q|ENST00000420489,p.R629Q|NM_001142564,p.R698Q|uc003gxt.4,p.R629Q|ENST00000514170,p.R629Q|ENST00000544810,p.R629Q	retained_intron, protein_coding	uc003gxu.3	nonsynonymous SNV	exon10	c.G2093A	p.R698Q	GSDPKDLEEKVTRMEGSVDLLQTRF	GSDPKDLEEKVTQMEGSVDLLQTRF	2.0	8.0	-	-	3903_4:47938625-47938625 C>T_GSDPKDLEEKVTQMEGSVDLLQTRF
5:89968375-89968375 G>A	0.0	3903	MELANOMA	-	-	-	-	GPR98	ENST00000405460,p.G1589R|NM_032119,p.G1589R|uc003kju.3,p.G1589R	retained_intron, protein_coding, processed_transcript	uc003kju.3	nonsynonymous SNV	exon22	c.G4765A	p.G1589R	FTGACIPEIAEEGSTISCVVERTRG	FTGACIPEIAEERSTISCVVERTRG	6.0	8.0	-	-	3903_5:89968375-89968375 G>A_FTGACIPEIAEERSTISCVVERTRG
2:75720448-75720448 C>T	1.0	3903	MELANOMA	-	-	-	-	EVA1A	NM_001135032,p.E125K|uc002snk.1,p.E125K|ENST00000410071,p.E125K|ENST00000410010,p.E113K|uc002sni.2,p.E125K|ENST00000393913,p.E125K|ENST00000432649,p.E125K|NM_032181,p.E125K|ENST00000233712,p.E125K|ENST00000410113,p.E125K|uc002snj.1,p.E112K	protein_coding, processed_transcript	uc002snk.1	nonsynonymous SNV	exon4	c.G373A	p.E125K	TSAEELERAQRLEERERIIREIWMN	TSAEELERAQRLKERERIIREIWMN	8.0	4.0	-	-	3903_2:75720448-75720448 C>T_TSAEELERAQRLKERERIIREIWMN
12:108012027-108012027 C>T	0.0	3903	MELANOMA	-	-	ID=COSM69855;OCCURENCE=1(ovary)	-	BTBD11	uc001tmk.1,p.A775V|NM_001018072,p.A775V|ENST00000357167,p.A312V|NM_001017523,p.A312V|uc001tmj.3,p.A775V|ENST00000490090,p.A775V|ENST00000280758,p.A775V|uc001tml.1,p.A312V	protein_coding	uc001tml.1	nonsynonymous SNV	exon8	c.C935T	p.A312V	SLEEILAEGTDLAETAPPPLCASRN	SLEEILAEGTDLVETAPPPLCASRN	4.0	7.0	-	-	3903_12:108012027-108012027 C>T_SLEEILAEGTDLVETAPPPLCASRN
1:244528039-244528039 C>T	0.0	3903	MELANOMA	-	-	ID=COSM228843;OCCURENCE=1(skin)	-	C1orf100	NM_001012970,p.R13C|NM_001276349,p.R13C|uc001iah.4,p.R13C|ENST00000308105,p.R13C|NM_001276348,p.R13C|ENST00000366537,p.R13C|uc001iai.4,p.R13C|uc031psw.1,p.R13C	protein_coding, processed_transcript	uc031psw.1	nonsynonymous SNV	exon2	c.C37T	p.R13C	MTAIRLREFIERRPVIPPSIFIAHQ	MTAIRLREFIERCPVIPPSIFIAHQ	3.0	10.0	-	-	3903_1:244528039-244528039 C>T_MTAIRLREFIERCPVIPPSIFIAHQ
18:59713138-59713138 G>T	1.0	3903	MELANOMA	-	-	-	-	PIGN	NM_012327,p.T916K|ENST00000400334,p.T916K|uc021ulb.1,p.T916K|ENST00000357637,p.T916K|NM_176787,p.T916K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ulb.1	nonsynonymous SNV	exon28	c.C2747A	p.T916K	FLVFLNGLAQLLTTKKLRLCGKPKS	FLVFLNGLAQLLKTKKLRLCGKPKS	6.0	10.0	-	-	3903_18:59713138-59713138 G>T_FLVFLNGLAQLLKTKKLRLCGKPKS
19:57175423-57175423 G>A	0.0	3903	MELANOMA	-	-	-	-	ZNF835	NM_001005850,p.L382F|uc031rne.1,p.L382F|uc010ygn.2,p.L382F|ENST00000537055,p.L382F	protein_coding	uc031rne.1	nonsynonymous SNV	exon1	c.C1144T	p.L382F	RFSNRSHLLQHRLVHTGERPYRCLQ	RFSNRSHLLQHRFVHTGERPYRCLQ	2.0	9.0	-	-	3903_19:57175423-57175423 G>A_RFSNRSHLLQHRFVHTGERPYRCLQ
7:100645932-100645932 G>A	0.0	3903	MELANOMA	-	-	-	-	MUC12	NM_001164462,p.D4030N|uc003uxo.3,p.D4030N|ENST00000379442,p.D4173N|ENST00000536621,p.D4030N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.G12088A	p.D4030N	GQQSTTFHSSPGDTETTLLPDDTIT	GQQSTTFHSSPGNTETTLLPDDTIT	3.0	1.0	unscreened	-	3903_7:100645932-100645932 G>A_GQQSTTFHSSPGNTETTLLPDDTIT
2:80874951-80874951 C>T	0.0	3903	MELANOMA	-	-	ID=COSM1023230,COSM1023231;OCCURENCE=1(endometrium)	2	CTNNA2	NM_001282598,p.S925L|uc010ysh.2,p.S939L|NM_004389,p.S891L|NM_001282599,p.S570L|ENST00000540488,p.S846L|ENST00000496558,p.S891L|uc010ysj.2,p.S220L|ENST00000402739,p.S939L|ENST00000343114,p.S570L|NM_001282600,p.S523L|NM_001282597,p.S939L|uc010ysi.2,p.S523L|uc010yse.2,p.S891L|NM_001164883,p.S846L|ENST00000466387,p.S891L|uc010ysf.2,p.S891L|uc010ysg.2,p.S846L|ENST00000541047,p.S891L|ENST00000361291,p.S925L	retained_intron, protein_coding, processed_transcript	uc010ysj.2	nonsynonymous SNV	exon4	c.C659T	p.S220L	TRVRRGSQKKHISPVQALSEFKAMD	TRVRRGSQKKHILPVQALSEFKAMD	2.0	2.0	-	-	3903_2:80874951-80874951 C>T_TRVRRGSQKKHILPVQALSEFKAMD
2:131674847-131674847 G>A	0.0	3903	MELANOMA	-	-	-	-	ARHGEF4	ENST00000409359,p.G780R|ENST00000438985,p.G104R|uc002trz.1,p.G570R|uc010fmw.1,p.G570R	retained_intron, protein_coding, processed_transcript	uc010fmw.1	nonsynonymous SNV	exon1	c.G1708A	p.G570R	RPSAQRMGLHYPGRGSAISMVSLGS	RPSAQRMGLHYPRRGSAISMVSLGS	4.0	1.0	-	-	3903_2:131674847-131674847 G>A_RPSAQRMGLHYPRRGSAISMVSLGS
11:118771565-118771565 G>A	1.0	3903	MELANOMA	-	-	-	1	BCL9L	NM_182557,p.P963S|uc009zal.3,p.P958S|ENST00000334801,p.P963S|uc001pug.3,p.P963S	protein_coding, processed_transcript	uc009zal.3	nonsynonymous SNV	exon6	c.C2872T	p.P958S	NLKSPQTPSQMVPLPSANPPGPLKS	NLKSPQTPSQMVSLPSANPPGPLKS	9.0	9.0	-	-	3903_11:118771565-118771565 G>A_NLKSPQTPSQMVSLPSANPPGPLKS
8:100847802-100847802 C>T	1.0	3903	MELANOMA	-	-	ID=COSM1700419,COSM1700420;OCCURENCE=1(skin)	-	VPS13B	ENST00000358544,p.P3285S|NM_152564,p.P3260S|uc003yiw.4,p.P3260S|NM_017890,p.P3285S|ENST00000357162,p.P3260S|uc003yiv.4,p.P3285S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yiw.4	nonsynonymous SNV	exon54	c.C9778T	p.P3260S	DIPKFEVYCKKIPSECSIHHELYHQ	DIPKFEVYCKKISSECSIHHELYHQ	6.0	5.0	unscreened	-	3903_8:100847802-100847802 C>T_DIPKFEVYCKKISSECSIHHELYHQ
11:5247932-5247932 G>A	0.0	3903	MELANOMA	-	-	-	-	HBB	NM_000518,p.H64Y|uc001mae.1,p.H64Y|ENST00000335295,p.H64Y|ENST00000380315,p.H64Y	retained_intron, protein_coding	uc001mae.1	nonsynonymous SNV	exon2	c.C190T	p.H64Y	PDAVMGNPKVKAHGKKVLGAFSDGL	PDAVMGNPKVKAYGKKVLGAFSDGL	7.0	8.0	unscreened	-	3903_11:5247932-5247932 G>A_PDAVMGNPKVKAYGKKVLGAFSDGL
7:31378078-31378078 C>T	0.0	3903	MELANOMA	-	-	-	-	NEUROD6	uc003tch.4,p.G269R|ENST00000297142,p.G269R|uc022abi.1,p.G269R|NM_022728,p.G269R	protein_coding	uc022abi.1	nonsynonymous SNV	exon1	c.G805A	p.G269R	EGPLSPPPINYNGIFSLKQEETLDY	EGPLSPPPINYNRIFSLKQEETLDY	1.0	10.0	-	-	3903_7:31378078-31378078 C>T_EGPLSPPPINYNRIFSLKQEETLDY
4:151504807-151504807 A>C	0.0	3903	MELANOMA	-	-	-	-	MAB21L2	ENST00000317605,p.N209T|uc003ilw.3,p.N209T|NM_006439,p.N209T	protein_coding	uc003ilw.3	nonsynonymous SNV	exon1	c.A626C	p.N209T	PNRVAEVKAEGFNLLSKECYSLTGK	PNRVAEVKAEGFTLLSKECYSLTGK	2.0	1.0	-	-	3903_4:151504807-151504807 A>C_PNRVAEVKAEGFTLLSKECYSLTGK
18:50942659-50942659 A>T	0.0	3903	MELANOMA	-	-	-	2	DCC	uc010xdr.1,p.N889I|ENST00000412726,p.N889I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xdr.1	nonsynonymous SNV	exon22	c.A2666T	p.N889I	KMANDQDTGVTINLVNEVLLG	KMANDQDTGVTIILVNEVLLG	5.0	10.0	unscreened	-	3903_18:50942659-50942659 A>T_KMANDQDTGVTIILVNEVLLG
22:50017846-50017846 G>A	0.0	3903	MELANOMA	-	-	-	-	C22orf34	NM_001289922,p.S141L	protein_coding, processed_transcript, nonsense_mediated_decay	NM_001289922	nonsynonymous SNV	exon5	c.C422T	p.S141L	TVPSPQRSAPRASLCPPHKGKSP	TVPSPQRSAPRALLCPPHKGKSP	6.0	2.0	unscreened	-	3903_22:50017846-50017846 G>A_TVPSPQRSAPRALLCPPHKGKSP
19:22364136-22364136 G>A	0.0	3903	MELANOMA	-	-	-	-	ZNF676	NM_001001411,p.S128L|ENST00000397121,p.S128L|uc002nqs.1,p.S128L	protein_coding	uc002nqs.1	nonsynonymous SNV	exon3	c.C383T	p.S128L	GKYANVFHKCSNSNRHKIRHTGEKG	GKYANVFHKCSNLNRHKIRHTGEKG	1.0	1.0	unscreened	-	3903_19:22364136-22364136 G>A_GKYANVFHKCSNLNRHKIRHTGEKG
1:12919084-12919084 C>T	0.0	3903	MELANOMA	-	-	-	-	PRAMEF2	NM_023014,p.H74Y|uc001aum.1,p.H74Y|ENST00000240189,p.H74Y	protein_coding	uc001aum.1	nonsynonymous SNV	exon2	c.C220T	p.H74Y	TCLPLVSLMKTLHLEPLKALLEGLH	TCLPLVSLMKTLYLEPLKALLEGLH	1.0	6.0	unscreened	-	3903_1:12919084-12919084 C>T_TCLPLVSLMKTLYLEPLKALLEGLH
2:185802528-185802528 C>T	0.0	3903	MELANOMA	-	-	-	-	ZNF804A	NM_194250,p.S802L|ENST00000302277,p.S802L|uc002uph.3,p.S802L	protein_coding	uc002uph.3	nonsynonymous SNV	exon4	c.C2405T	p.S802L	HLPEEFLRPPSTSVAPCKPKKKRRR	HLPEEFLRPPSTLVAPCKPKKKRRR	2.0	9.0	unscreened	-	3903_2:185802528-185802528 C>T_HLPEEFLRPPSTLVAPCKPKKKRRR
19:42506349-42506349 G>A	0.0	3903	MELANOMA	-	-	-	-	GRIK5	NM_001301030,p.S955F|ENST00000301218,p.S955F	retained_intron, protein_coding, nonsense_mediated_decay	NM_001301030	nonsynonymous SNV	exon19	c.C2864T	p.S955F	LPDASSFFFPPISSCPPLQSGIGPC	LPDASSFFFPPIFSCPPLQSGIGPC	3.0	1.0	unscreened	-	3903_19:42506349-42506349 G>A_LPDASSFFFPPIFSCPPLQSGIGPC
7:88423553-88423553 C>T	0.0	3903	MELANOMA	-	-	-	-	C7orf62	ENST00000297203,p.R235K|NM_152706,p.R235K|uc022ahc.1,p.R235K|uc003ujv.3,p.R235K	protein_coding	uc022ahc.1	nonsynonymous SNV	exon1	c.G704A	p.R235K	FMDPATFINMYNRPIHITLDSEVVW	FMDPATFINMYNKPIHITLDSEVVW	1.0	2.0	-	-	3903_7:88423553-88423553 C>T_FMDPATFINMYNKPIHITLDSEVVW
4:47939621-47939621 A>C	0.0	3903	MELANOMA	-	-	-	-	CNGA1	uc003gxu.3,p.I366S|ENST00000514170,p.I297S|ENST00000544810,p.I297S|ENST00000358519,p.I297S|NM_000087,p.I297S|NM_001142564,p.I366S|uc003gxt.4,p.I297S|ENST00000420489,p.I297S|ENST00000402813,p.I366S	retained_intron, protein_coding	uc003gxu.3	nonsynonymous SNV	exon10	c.T1097G	p.I366S	FQRTETRTNYPNIFRISNLVMYIVI	FQRTETRTNYPNSFRISNLVMYIVI	2.0	9.0	-	-	3903_4:47939621-47939621 A>C_FQRTETRTNYPNSFRISNLVMYIVI
3:50102527-50102527 C>T	1.0	3903	MELANOMA	-	-	-	-	RBM6	uc010hlc.2,p.P403S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hlc.2	nonsynonymous SNV	exon15	c.C1207T	p.P403S	APAEDVFKKPLPPTVKKEESPPPMP	APAEDVFKKPLPSTVKKEESPPPMP	9.0	3.0	unscreened	-	3903_3:50102527-50102527 C>T_APAEDVFKKPLPSTVKKEESPPPMP
3:50102527-50102527 C>T	1.0	3903	MELANOMA	-	-	-	-	RBM6	uc003cye.3,p.P362S|ENST00000443081,p.P752S|ENST00000266022,p.P884S|uc011bdi.2,p.P226S|NM_001167582,p.P362S|uc003cyd.3,p.P362S|ENST00000442092,p.P362S|ENST00000422955,p.P362S|NM_005777,p.P884S|ENST00000539992,p.P226S|uc003cyc.3,p.P884S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bdi.2	nonsynonymous SNV	exon11	c.C676T	p.P226S	APAEDVFKKPLPPTVKKEESPPPPK	APAEDVFKKPLPSTVKKEESPPPPK	9.0	3.0	-	-	3903_3:50102527-50102527 C>T_APAEDVFKKPLPSTVKKEESPPPPK
6:16327864-16327864 ->TGC	0.0	3903	MELANOMA	-	-	-	-	ATXN1	ENST00000436367,p.H226delinsQH|uc003nbt.3,p.H226delinsQH|NM_001128164,p.H226delinsQH|ENST00000244769,p.H226delinsQH|uc010jpi.3,p.H226delinsQH|NM_000332,p.H226delinsQH	protein_coding, processed_transcript	uc010jpi.3	nonframeshift insertion	exon7	c.677_678insGCA	p.H226delinsQH	QQQQQQQQQQQQHLSRAPGLITPGS	QQQQQQQQQQQQQHLSRAPGLITPG	7.0	2.0	unscreened	-	3903_6:16327864-16327864 ->TGC_QQQQQQQQQQQQQHLSRAPGLITPG
13:92345524-92345524 G>A	0.0	3903	MELANOMA	-	-	-	-	GPC5	NM_004466,p.A137T|uc010tif.2,p.A137T|ENST00000377067,p.A137T	protein_coding, processed_transcript	uc010tif.2	nonsynonymous SNV	exon3	c.G409A	p.A137T	LFCSTYRNMALEAAASVQEFFTDVG	LFCSTYRNMALETAASVQEFFTDVG	1.0	7.0	-	-	3903_13:92345524-92345524 G>A_LFCSTYRNMALETAASVQEFFTDVG
7:100642689-100642689 G>A	0.0	3903	MELANOMA	-	-	-	-	MUC12	NM_001164462,p.E2949K|ENST00000379442,p.E3092K|ENST00000536621,p.E2949K|uc003uxo.3,p.E2949K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.G8845A	p.E2949K	QSTTFHSSPGDTETTLLPDDTITSG	QSTTFHSSPGDTKTTLLPDDTITSG	3.0	1.0	unscreened	-	3903_7:100642689-100642689 G>A_QSTTFHSSPGDTKTTLLPDDTITSG
13:106119440-106119440 T>G	0.0	3903	MELANOMA	-	-	-	-	DAOA	ENST00000601240,p.F28C|ENST00000375936,p.F28C|ENST00000489237,p.F28C|NM_172370,p.F28C|ENST00000473269,p.F28C|uc001vqb.3,p.F28C	protein_coding, nonsense_mediated_decay	uc001vqb.3	nonsynonymous SNV	exon2	c.T83G	p.F28C	SRYTLGKIYFIGFQRSILLSKSENS	SRYTLGKIYFIGCQRSILLSKSENS	1.0	3.0	-	-	3903_13:106119440-106119440 T>G_SRYTLGKIYFIGCQRSILLSKSENS
19:55142959-55142959 C>T	0.0	3903	MELANOMA	-	-	-	-	LILRB1	ENST00000421584,p.P27S|NM_001278399,p.P27S|ENST00000396331,p.P27S|ENST00000418536,p.P27S|ENST00000396332,p.P27S|ENST00000396321,p.P27S|ENST00000434867,p.P27S|ENST00000396315,p.P27S|uc002qgj.3,p.P27S|NM_006669,p.P27S|ENST00000396317,p.P27S|uc010erq.3,p.P27S|NM_001278398,p.P27S|NM_001081637,p.P27S|uc002qgk.3,p.P27S|ENST00000448689,p.P27S|ENST00000324602,p.P27S|ENST00000396327,p.P27S|uc002qgm.3,p.P27S|uc002qgl.3,p.P27S|NM_001081638,p.P27S|ENST00000427581,p.P63S|NM_001081639,p.P27S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010erq.3	nonsynonymous SNV	exon3	c.C79T	p.P27S	LGPRTHVQAGHLPKPTLWAEPGSVI	LGPRTHVQAGHLSKPTLWAEPGSVI	8.0	8.0	unscreened	-	3903_19:55142959-55142959 C>T_LGPRTHVQAGHLSKPTLWAEPGSVI
1:29016692-29016692 G>A	1.0	3903	MELANOMA	-	-	-	-	GMEB1	uc001bra.3,p.G79R|ENST00000373816,p.G69R|NM_006582,p.G79R|uc001bqz.3,p.G69R|uc001brb.3,p.G69R|NM_024482,p.G69R|ENST00000294409,p.G79R|ENST00000361872,p.G69R	protein_coding, processed_transcript	uc001brb.3	nonsynonymous SNV	exon3	c.G205A	p.G69R	AVETHTIHKIEEGIDTGTIEANEDM	AVETHTIHKIEERIDTGTIEANEDM	6.0	2.0	-	-	3903_1:29016692-29016692 G>A_AVETHTIHKIEERIDTGTIEANEDM
6:109978032-109978032 C>T	1.0	3903	MELANOMA	-	-	-	-	AK9	uc003ptn.2,p.R229K|NM_001145128,p.R229K|ENST00000532976,p.R229K|ENST00000368948,p.R229K|ENST00000424296,p.R229K|NM_145025,p.R229K|ENST00000285397,p.R229K|ENST00000448084,p.R152K|uc003ptr.4,p.R229K	retained_intron, protein_coding	uc003ptr.4	nonsynonymous SNV	exon8	c.G686A	p.R229K	QMVAEILHHLVQRPEDYLENVENIV	QMVAEILHHLVQKPEDYLENVENIV	4.0	10.0	-	-	3903_6:109978032-109978032 C>T_QMVAEILHHLVQKPEDYLENVENIV
5:13868101-13868101 C>T	0.0	3903	MELANOMA	-	-	-	-	DNAH5	ENST00000265104,p.E1279K|uc003jfd.2,p.E1279K|NM_001369,p.E1279K	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon25	c.G3835A	p.E1279K	QISIDFQVGPIEESYALLNRYGLLI	QISIDFQVGPIEKSYALLNRYGLLI	1.0	2.0	-	-	3903_5:13868101-13868101 C>T_QISIDFQVGPIEKSYALLNRYGLLI
13:33635905-33635905 G>A	0.0	3903	MELANOMA	-	-	-	-	KL	uc001uus.3,p.E897K|NM_004795,p.E897K|ENST00000380099,p.E897K	protein_coding, processed_transcript	uc001uus.3	nonsynonymous SNV	exon4	c.G2689A	p.E897K	QLRVYYMQNYINEALKAHILDGINL	QLRVYYMQNYINKALKAHILDGINL	1.0	7.0	-	-	3903_13:33635905-33635905 G>A_QLRVYYMQNYINKALKAHILDGINL
3:52393974-52393974 A>G	0.0	3903	MELANOMA	-	-	-	-	DNAH1	uc011bef.2,p.M1484V|ENST00000420323,p.M1484V|NM_015512,p.M1484V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bef.2	nonsynonymous SNV	exon27	c.A4450G	p.M1484V	DLVALVRGKLSRMQRAVLSALIVIE	DLVALVRGKLSRVQRAVLSALIVIE	5.0	4.0	-	-	3903_3:52393974-52393974 A>G_DLVALVRGKLSRVQRAVLSALIVIE
14:103941394-103941394 T>G	1.0	3903	MELANOMA	-	-	-	-	MARK3	NM_001128921,p.S364R|ENST00000553942,p.S443R|uc001ymx.4,p.S443R|ENST00000561314,p.S22R|ENST00000440884,p.S364R|ENST00000429436,p.S443R|uc010tyb.2,p.S238R|NM_002376,p.S443R|NM_001128919,p.S443R|ENST00000335102,p.S466R|ENST00000303622,p.S443R|ENST00000416682,p.S466R|uc001ymy.4,p.S364R|ENST00000216288,p.S427R|uc010awp.3,p.S466R|NM_001128918,p.S443R|NM_001128920,p.S427R|uc001ymw.4,p.S443R|uc001ymz.4,p.S443R|uc001yna.4,p.S427R	retained_intron, protein_coding, processed_transcript	uc010tyb.2	nonsynonymous SNV	exon6	c.T714G	p.S238R	AYPKRSQTSTADSDLKEDGISSRKS	AYPKRSQTSTADRDLKEDGISSRKS	9.0	2.0	-	-	3903_14:103941394-103941394 T>G_AYPKRSQTSTADRDLKEDGISSRKS
1:54418067-54418067 G>A	1.0	3903	MELANOMA	-	-	-	-	LRRC42	ENST00000444987,p.G132D|NM_001256409,p.G132D|ENST00000371368,p.G132D|NM_052940,p.G132D|ENST00000319223,p.G132D|uc001cwj.2,p.G132D|ENST00000371370,p.G132D|uc001cwk.2,p.G132D	protein_coding, processed_transcript	uc001cwk.2	nonsynonymous SNV	exon3	c.G395A	p.G132D	SAAEARQKFTEPGAGLRALQKFTEA	SAAEARQKFTEPDAGLRALQKFTEA	8.0	4.0	-	-	3903_1:54418067-54418067 G>A_SAAEARQKFTEPDAGLRALQKFTEA
6:49936428-49936428 T>C	0.0	3903	MELANOMA	-	-	-	-	DEFB113	NM_001037729,p.I71V|uc011dwq.2,p.I71V|ENST00000398718,p.I71V	protein_coding	uc011dwq.2	nonsynonymous SNV	exon2	c.A211G	p.I71V	NPCCAVWEYQKPIINKITSKLHQK	NPCCAVWEYQKPVINKITSKLHQK	1.0	9.0	unscreened	-	3903_6:49936428-49936428 T>C_NPCCAVWEYQKPVINKITSKLHQK
5:140208253-140208253 G>A	1.0	3903	MELANOMA	-	-	-	-	PCDHA6	ENST00000527624,p.G193R|uc003lho.2,p.G193R|NM_031848,p.G193R|uc011dab.2,p.G193R|NM_031849,p.G193R|NM_018909,p.G193R|ENST00000529310,p.G193R|uc003lhn.2,p.G193R	protein_coding	uc011dab.2	nonsynonymous SNV	exon1	c.G577A	p.G193R	DVKINSDDNKQIGLLLKKSLDREEA	DVKINSDDNKQIRLLLKKSLDREEA	4.0	5.0	-	-	3903_5:140208253-140208253 G>A_DVKINSDDNKQIRLLLKKSLDREEA
X:153881755-153881755 G>A	1.0	3903	MELANOMA	-	-	ID=COSM3406168,COSM3406166,COSM3406167;OCCURENCE=1(central_nervous_system)	-	CTAG2	ENST00000247306,p.T12M|uc004fmh.2,p.T12M|uc004fmi.2,p.T12M|ENST00000369585,p.T12M	protein_coding	uc004fmi.2	nonsynonymous SNV	exon1	c.C35T	p.T12M	MQAEGQGTGGSTGDADGPGGPGIP	MQAEGQGTGGSMGDADGPGGPGIP	5.0	10.0	unscreened	-	3903_X:153881755-153881755 G>A_MQAEGQGTGGSMGDADGPGGPGIP
22:50017845-50017845 T>A	0.0	3903	MELANOMA	-	-	-	-	C22orf34	ENST00000444628,p.T206S|ENST00000343999,p.T96S	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000444628	nonsynonymous SNV	exon4	c.A616T	p.T206S	CALPTKVSTPSITVPSPQRSPQMSL	CALPTKVSTPSISVPSPQRSPQMSL	6.0	2.0	unscreened	-	3903_22:50017845-50017845 T>A_CALPTKVSTPSISVPSPQRSPQMSL
17:18049351-18049351 G>A	0.0	3903	MELANOMA	-	-	-	-	MYO15A	ENST00000205890,p.G2147S|uc021trm.1,p.G2147S|NM_016239,p.G2147S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021trm.1	nonsynonymous SNV	exon29	c.G6439A	p.G2147S	VWHNHNAHNAERGWLLLAACLSGFA	VWHNHNAHNAERSWLLLAACLSGFA	2.0	5.0	-	-	3903_17:18049351-18049351 G>A_VWHNHNAHNAERSWLLLAACLSGFA
2:209292995-209292995 G>A	0.0	3903	MELANOMA	-	-	-	-	PTH2R	uc010zjb.2,p.E60K|ENST00000272847,p.E49K|NM_005048,p.E49K|uc002vdb.4,p.E49K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zjb.2	nonsynonymous SNV	exon2	c.G178A	p.E60K	QIVLVLKAKVQCELNITAQLQEGEG	QIVLVLKAKVQCKLNITAQLQEGEG	1.0	8.0	-	-	3903_2:209292995-209292995 G>A_QIVLVLKAKVQCKLNITAQLQEGEG
16:90095582-90095582 ->TACGGGGCAGGCTGCGGGGCAGCC	0.0	3903	MELANOMA	-	-	-	-	GAS8-AS1	ENST00000408886,p.S57delinsGCPAACPVS|uc002fqk.1,p.S57delinsGCPAACPVS	protein_coding	uc002fqk.1	nonframeshift insertion	exon1	c.168_169insGGCTGCCCCGCAGCCTGCCCCGTA	p.S57delinsGCPAACPVS	ACPVGCPIACPVSCPVACPVGCPVG	ACPVGCPIACPVGCPAACPVSCPVA	4.0	1.0	unscreened	-	3903_16:90095582-90095582 ->TACGGGGCAGGCTGCGGGGCAGCC_ACPVGCPIACPVGCPAACPVSCPVA
1:46978030-46978030 C>T	0.0	3903	MELANOMA	-	-	-	-	DMBX1	NM_172225,p.P333L|ENST00000360032,p.P333L|NM_147192,p.P338L|uc001cpx.3,p.P338L|uc001cpw.3,p.P333L|ENST00000371956,p.P338L	protein_coding	uc001cpx.3	nonsynonymous SNV	exon4	c.C1013T	p.P338L	AAAAAHQGVWGSPLLPAPPAGLAPA	AAAAAHQGVWGSLLLPAPPAGLAPA	1.0	8.0	-	-	3903_1:46978030-46978030 C>T_AAAAAHQGVWGSLLLPAPPAGLAPA
10:25885710-25885710 G>A	1.0	3903	MELANOMA	-	-	-	-	GPR158	ENST00000376351,p.D713N|NM_020752,p.D713N|uc001isk.3,p.D88N|uc001isj.3,p.D713N	protein_coding, processed_transcript	uc001isk.3	nonsynonymous SNV	exon2	c.G262A	p.D88N	NSAWSEHSLDPEDIRDELKKLYAQL	NSAWSEHSLDPENIRDELKKLYAQL	5.0	9.0	-	-	3903_10:25885710-25885710 G>A_NSAWSEHSLDPENIRDELKKLYAQL
6:170176145-170176145 C>T	1.0	3903	MELANOMA	-	-	-	-	ERMARD	uc003qxh.1,p.R502C|NM_001278533,p.R502C|ENST00000418781,p.R502C	retained_intron, protein_coding, nonsense_mediated_decay	uc003qxh.1	nonsynonymous SNV	exon15	c.C1504T	p.R502C	MPENRCVLKDLDRLPTETIRLLSPV	MPENRCVLKDLDCLPTETIRLLSPV	7.0	6.0	unscreened	-	3903_6:170176145-170176145 C>T_MPENRCVLKDLDCLPTETIRLLSPV
5:140737010-140737010 C>T	0.0	3903	MELANOMA	-	-	-	-	PCDHGA4	ENST00000571252,p.A748V|uc003ljp.1,p.A748V|uc003ljq.2,p.A748V|NM_032053,p.A779V|NM_018917,p.A779V	protein_coding	uc003ljq.2	nonsynonymous SNV	exon1	c.C2243T	p.A748V	PASHFVGVDGVRAFLQTYSHEVSLT	PASHFVGVDGVRVFLQTYSHEVSLT	3.0	5.0	unscreened	-	3903_5:140737010-140737010 C>T_PASHFVGVDGVRVFLQTYSHEVSLT
7:27147901-27147901 G>A	1.0	3903	MELANOMA	-	-	-	-	HOXA3	uc011jzl.2,p.P322L|NM_153631,p.P322L|ENST00000317201,p.P322L|uc003syk.3,p.P322L|ENST00000396352,p.P322L|NM_030661,p.P322L	protein_coding, processed_transcript	uc011jzl.2	nonsynonymous SNV	exon3	c.C965T	p.P322L	ASYPASLPSCAPPPPPQKRYTAAGA	ASYPASLPSCAPLPPPQKRYTAAGA	8.0	6.0	-	-	3903_7:27147901-27147901 G>A_ASYPASLPSCAPLPPPQKRYTAAGA
1:181767510-181767510 C>T	0.0	3903	MELANOMA	-	-	-	-	CACNA1E	ENST00000358338,p.P2050L|ENST00000526775,p.P2099L|ENST00000360108,p.P2142L|NM_000721,p.P2118L|ENST00000367570,p.P2118L|uc009wxt.3,p.P2161L|NM_001205293,p.P2161L|NM_001205294,p.P2099L|uc009wxs.3,p.P2099L|uc001gow.3,p.P2118L|ENST00000367573,p.P2161L|ENST00000367567,p.P1725L|ENST00000357570,p.P2112L	retained_intron, protein_coding	uc009wxt.3	nonsynonymous SNV	exon48	c.C6482T	p.P2161L	TSTPRRSRRQLPPVPPKPRPLLSYS	TSTPRRSRRQLPLVPPKPRPLLSYS	1.0	10.0	-	-	3903_1:181767510-181767510 C>T_TSTPRRSRRQLPLVPPKPRPLLSYS
1:109735477-109735477 C>T	0.0	3903	MELANOMA	-	-	-	-	KIAA1324	uc021orb.1,p.P643L|uc001dwr.3,p.P293L|uc010ovg.3,p.P541L|uc031pnl.1,p.P305L|NM_001284353,p.P305L|ENST00000457623,p.P593L|ENST00000529753,p.P556L|uc009wey.3,p.P556L|ENST00000369939,p.P643L|NM_001284352,p.P541L|NM_020775,p.P643L|uc009wex.2,p.P593L|NM_001267048,p.P556L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pnl.1	nonsynonymous SNV	exon7	c.C914T	p.P305L	QPYGVQACVPCGPGTKNNKIHSLCY	QPYGVQACVPCGLGTKNNKIHSLCY	4.0	7.0	unscreened	-	3903_1:109735477-109735477 C>T_QPYGVQACVPCGLGTKNNKIHSLCY
9:39176077-39176077 C>T	0.0	3903	MELANOMA	-	-	-	-	CNTNAP3	ENST00000323947,p.G314R|uc004abk.1,p.G314R|ENST00000377659,p.G314R|ENST00000443583,p.G314R|ENST00000377656,p.G314R|uc004abi.3,p.G314R|ENST00000358144,p.G226R|NM_033655,p.G314R|uc004abj.3,p.G314R|uc011lqs.1,p.G314R|ENST00000297668,p.G314R	protein_coding, processed_transcript, nonsense_mediated_decay	uc011lqs.1	nonsynonymous SNV	exon7	c.G940A	p.G314R	SYLDLNFEISFGGIPTPGRSRAFRR	SYLDLNFEISFGRIPTPGRSRAFRR	4.0	1.0	unscreened	-	3903_9:39176077-39176077 C>T_SYLDLNFEISFGRIPTPGRSRAFRR
5:130928077-130928077 T>C	0.0	3903	MELANOMA	-	-	-	-	RAPGEF6	uc003kvp.2,p.S144G|uc003kvn.2,p.S94G|ENST00000515170,p.S94G|uc010jdk.3,p.S94G|ENST00000307984,p.S94G|ENST00000296859,p.S94G|uc010jdi.2,p.S94G|uc003kvo.2,p.S94G|NM_001164388,p.S94G|ENST00000507093,p.S94G|uc010jdj.2,p.S94G|NM_016340,p.S94G|ENST00000509018,p.S94G|NM_001164387,p.S94G|ENST00000514667,p.S144G|ENST00000510071,p.S94G|NM_001164389,p.S94G|ENST00000308008,p.S94G|NM_001164390,p.S94G|NM_001164386,p.S94G|uc003kvr.3,p.S94G	protein_coding	uc010jdk.3	nonsynonymous SNV	exon4	c.A280G	p.S94G	VLVKGSMVLPPCSFGKQFGGKRGCD	VLVKGSMVLPPCGFGKQFGGKRGCD	6.0	4.0	-	-	3903_5:130928077-130928077 T>C_VLVKGSMVLPPCGFGKQFGGKRGCD
19:9062880-9062880 G>A	0.0	3903	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.S8189F|NM_024690,p.S8189F|ENST00000397910,p.S8189F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C24566T	p.S8189F	ETSTETITRLPTSSIMTESAEMMIK	ETSTETITRLPTFSIMTESAEMMIK	1.0	3.0	unscreened	-	3903_19:9062880-9062880 G>A_ETSTETITRLPTFSIMTESAEMMIK
16:921173-921173 C>T	1.0	3903	MELANOMA	0.0	-	-	-	LMF1	uc021tae.1,p.E356K|ENST00000543238,p.E119K|uc010bri.2,p.E119K|ENST00000262301,p.E356K|uc002ckk.2,p.E139K|NM_022773,p.E356K|ENST00000399843,p.E356K|uc010uuu.2,p.E139K|ENST00000568897,p.E139K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc021tae.1	nonsynonymous SNV	exon7	c.G1066A	p.E356K	LQMQRDIRGARPEPRFGSVVRRAAN	LQMQRDIRGARPKPRFGSVVRRAAN	6.0	6.0	-	-	3903_16:921173-921173 C>T_LQMQRDIRGARPKPRFGSVVRRAAN
8:69017518-69017518 C>T	0.0	3903	MELANOMA	-	-	-	1	PREX2	uc003xxu.1,p.S954F|NM_025170,p.S954F	protein_coding, processed_transcript	uc003xxu.1	nonsynonymous SNV	exon24	c.C2861T	p.S954F	EFLLLPPPLLGISQDGRQHCIPEDL	EFLLLPPPLLGIFQDGRQHCIPEDL	3.0	8.0	-	-	3903_8:69017518-69017518 C>T_EFLLLPPPLLGIFQDGRQHCIPEDL
6:87994132-87994132 C>T	0.0	3903	MELANOMA	-	-	-	-	GJB7	ENST00000296882,p.D167N|uc021zcj.1,p.D167N|uc003plo.2,p.D167N|ENST00000525899,p.D167N|NM_198568,p.D167N	protein_coding, processed_transcript	uc021zcj.1	nonsynonymous SNV	exon1	c.G499A	p.D167N	IKCDLKPCPNTVDCFISKPTEKTIF	IKCDLKPCPNTVNCFISKPTEKTIF	2.0	10.0	-	-	3903_6:87994132-87994132 C>T_IKCDLKPCPNTVNCFISKPTEKTIF
X:107431205-107431205 G>A	0.0	3903	MELANOMA	-	-	-	-	COL4A6	ENST00000372216,p.P548L|ENST00000334504,p.P547L|uc011msn.2,p.P547L|NM_001287760,p.P547L|ENST00000538570,p.P547L|uc010npk.3,p.P547L|NM_033641,p.P547L|NM_001287759,p.P547L|NM_001287758,p.P547L|ENST00000394872,p.P548L|uc004enw.4,p.P548L|uc004env.4,p.P547L|NM_001847,p.P548L|ENST00000545689,p.P547L	retained_intron, protein_coding, processed_transcript	uc011msn.2	nonsynonymous SNV	exon22	c.C1640T	p.P547L	LGPSGPKGKKGEPILSTIQGMPGDR	LGPSGPKGKKGELILSTIQGMPGDR	1.0	10.0	-	-	3903_X:107431205-107431205 G>A_LGPSGPKGKKGELILSTIQGMPGDR
22:40036879-40036879 G>A	0.0	3903	MELANOMA	-	-	-	-	CACNA1I	ENST00000401624,p.D250N|uc003aye.3,p.D165N|ENST00000404898,p.D250N|ENST00000336649,p.D250N|uc003ayc.3,p.D250N|uc003ayf.3,p.D165N|NM_001003406,p.D250N|ENST00000407673,p.D250N|uc003ayd.3,p.D250N|ENST00000400164,p.D250N|ENST00000402142,p.D250N|NM_021096,p.D250N	protein_coding, processed_transcript	uc003ayf.3	nonsynonymous SNV	exon5	c.G493A	p.D165N	RCFLEENFTIQGDVALPPYYQPEED	RCFLEENFTIQGNVALPPYYQPEED	1.0	7.0	-	-	3903_22:40036879-40036879 G>A_RCFLEENFTIQGNVALPPYYQPEED
9:74361224-74361224 T>C	1.0	3903	MELANOMA	-	-	-	-	TMEM2	ENST00000377066,p.N122S|uc010mos.2,p.N122S|ENST00000377044,p.N122S|uc011lsa.1,p.N122S|NM_013390,p.N122S|NM_001135820,p.N122S|ENST00000542935,p.N122S	retained_intron, protein_coding, nonsense_mediated_decay	uc011lsa.1	nonsynonymous SNV	exon3	c.A365G	p.N122S	DENCPDQNPRLRNWDPGQDSAKQVV	DENCPDQNPRLRSWDPGQDSAKQVV	9.0	10.0	-	-	3903_9:74361224-74361224 T>C_DENCPDQNPRLRSWDPGQDSAKQVV
11:118179156-118179156 G>A	0.0	3903	MELANOMA	-	-	-	-	CD3E	NM_000733,p.G29S|uc010rya.2,p.G29S|uc001psq.4,p.G29S|ENST00000361763,p.G29S	retained_intron, protein_coding	uc010rya.2	nonsynonymous SNV	exon4	c.G85A	p.G29S	VGVWGQDGNEEMGGITQTPYKVSIS	VGVWGQDGNEEMSGITQTPYKVSIS	10.0	3.0	-	-	3903_11:118179156-118179156 G>A_VGVWGQDGNEEMSGITQTPYKVSIS
22:50553623-50553623 G>A	0.0	3903	MELANOMA	-	-	-	-	MOV10L1	NM_001164104,p.G403R|ENST00000545383,p.G403R|uc011arp.2,p.G383R|uc011arq.1,p.G164R|uc003bjk.4,p.G403R|NM_001164105,p.G383R|ENST00000395858,p.G403R|NM_018995,p.G403R|ENST00000262794,p.G403R|ENST00000540615,p.G383R|uc003bjj.3,p.G403R	protein_coding, processed_transcript, nonsense_mediated_decay	uc011arq.1	nonsynonymous SNV	exon3	c.G490A	p.G164R	LSRKQMTEPEPGGLVPPGGKTFIVV	LSRKQMTEPEPGRLVPPGGKTFIVV	2.0	3.0	unscreened	-	3903_22:50553623-50553623 G>A_LSRKQMTEPEPGRLVPPGGKTFIVV
X:73960365-73960365 C>T	0.0	3903	MELANOMA	-	-	-	-	KIAA2022	uc004eby.3,p.E1343K|ENST00000373468,p.E1343K|ENST00000055682,p.E1343K|NM_001008537,p.E1343K	protein_coding	uc004eby.3	nonsynonymous SNV	exon3	c.G4027A	p.E1343K	QRFMMASIEPLWEPMEHHGDPNIFY	QRFMMASIEPLWKPMEHHGDPNIFY	1.0	10.0	-	-	3903_X:73960365-73960365 C>T_QRFMMASIEPLWKPMEHHGDPNIFY
3:30769838-30769838 C>T	0.0	3903	MELANOMA	-	-	-	-	GADL1	ENST00000282538,p.G488R|uc003cep.2,p.G488R|NM_207359,p.G488R	protein_coding, processed_transcript	uc003cep.2	nonsynonymous SNV	exon15	c.G1462A	p.G488R	KGSLMLGYQPHRGKVNFFRQVVISP	KGSLMLGYQPHRRKVNFFRQVVISP	1.0	8.0	-	-	3903_3:30769838-30769838 C>T_KGSLMLGYQPHRRKVNFFRQVVISP
2:186668093-186668093 C>T	0.0	3903	MELANOMA	-	-	-	-	FSIP2	ENST00000343098,p.P4776L|NM_173651,p.P4776L|ENST00000424728,p.P4687L|uc002upl.3,p.P4776L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon17	c.C14327T	p.P4776L	SIIDNTEERLCLPPVERDVVKTIVD	SIIDNTEERLCLLPVERDVVKTIVD	1.0	4.0	unscreened	-	3903_2:186668093-186668093 C>T_SIIDNTEERLCLLPVERDVVKTIVD
19:11596540-11596540 G>A	1.0	3903	MELANOMA	-	-	-	-	ZNF653	ENST00000293771,p.P501S|NM_138783,p.P501S|uc002mrz.2,p.P501S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mrz.2	nonsynonymous SNV	exon7	c.C1501T	p.P501S	NLVHRKGKTKVCPHPGCGKKFYLSN	NLVHRKGKTKVCSHPGCGKKFYLSN	6.0	8.0	unscreened	-	3903_19:11596540-11596540 G>A_NLVHRKGKTKVCSHPGCGKKFYLSN
8:119391895-119391895 C>T	0.0	3903	MELANOMA	-	-	-	-	SAMD12	ENST00000526328,p.G123R|NM_001101676,p.G123R|uc003yom.2,p.G123R|ENST00000314727,p.G123R|uc010mda.1,p.G123R|NM_207506,p.G123R|ENST00000409003,p.G123R|ENST00000524796,p.G115R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010mda.1	nonsynonymous SNV	exon4	c.G367A	p.G123R	LLRLTDKKLERMGIAQENLRQHILQ	LLRLTDKKLERMRIAQENLRQHILQ	1.0	9.0	-	-	3903_8:119391895-119391895 C>T_LLRLTDKKLERMRIAQENLRQHILQ
12:8376684-8376684 G>A	0.0	3903	MELANOMA	-	-	-	-	FAM90A1	uc001qui.2,p.P84L|ENST00000307435,p.P84L|ENST00000538603,p.P84L|NM_018088,p.P84L|uc001quh.2,p.P84L	protein_coding	uc001qui.2	nonsynonymous SNV	exon5	c.C251T	p.P84L	NFGEKEGKENLKPWKPQVEANPGPL	NFGEKEGKENLKLWKPQVEANPGPL	3.0	1.0	unscreened	-	3903_12:8376684-8376684 G>A_NFGEKEGKENLKLWKPQVEANPGPL
3:49831058-49831058 G>T	0.0	3903	MELANOMA	-	-	-	-	CDHR4	ENST00000412678,p.N527K|NM_001007540,p.N527K|uc010hkz.3,p.N527K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010hkz.3	nonsynonymous SNV	exon12	c.C1581A	p.N527K	VLVIDHGQDQNPNHHLSGSCTITIE	VLVIDHGQDQNPKHHLSGSCTITIE	2.0	1.0	unscreened	-	3903_3:49831058-49831058 G>T_VLVIDHGQDQNPKHHLSGSCTITIE
7:100641745-100641745 G>A	0.0	3903	MELANOMA	-	rs201151723	-	-	MUC12	uc003uxo.3,p.R2634H|NM_001164462,p.R2634H|ENST00000536621,p.R2634H|ENST00000379442,p.R2777H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.G7901A	p.R2634H	STTSGRGESTTSRISPGSTEITTLP	STTSGRGESTTSHISPGSTEITTLP	3.0	2.0	unscreened	-	3903_7:100641745-100641745 G>A_STTSGRGESTTSHISPGSTEITTLP
2:100910751-100910751 C>T	0.0	3903	MELANOMA	-	-	-	-	LONRF2	uc002tal.4,p.R566K|ENST00000409647,p.R323K|NM_198461,p.R566K|ENST00000393437,p.R566K	protein_coding	uc002tal.4	nonsynonymous SNV	exon9	c.G1697A	p.R566K	LHVFEPRYRLMIRRCMETGTKRFGM	LHVFEPRYRLMIKRCMETGTKRFGM	4.0	5.0	unscreened	-	3903_2:100910751-100910751 C>T_LHVFEPRYRLMIKRCMETGTKRFGM
1:166904702-166904702 C>T	0.0	3903	MELANOMA	-	-	-	-	ILDR2	ENST00000271417,p.G239E|NM_199351,p.G239E|ENST00000469934,p.G239E|uc001gdx.2,p.G239E|ENST00000529071,p.G220E	protein_coding	uc001gdx.2	nonsynonymous SNV	exon6	c.G716A	p.G239E	DSCCCPQALYEAGKAAKAGYPPSVS	DSCCCPQALYEAEKAAKAGYPPSVS	1.0	10.0	-	-	3903_1:166904702-166904702 C>T_DSCCCPQALYEAEKAAKAGYPPSVS
19:55870564-55870564 C>T	0.0	3903	MELANOMA	-	-	-	-	FAM71E2	NM_001145402,p.G558R|uc002qkr.2,p.G558R|ENST00000424985,p.G558R	 nonsense_mediated_decay,protein_coding,nonsense_mediated_decay	uc002qkr.2	nonsynonymous SNV	exon9	c.G1672A	p.G558R	EYQMALSPPASRGKLPGDFDVLPTG	EYQMALSPPASRRKLPGDFDVLPTG	1.0	1.0	unscreened	-	3903_19:55870564-55870564 C>T_EYQMALSPPASRRKLPGDFDVLPTG
X:84526097-84526097 C>T	0.0	3903	MELANOMA	-	-	-	-	ZNF711	uc004eeo.3,p.P517S|ENST00000276123,p.P517S|ENST00000360700,p.P563S|uc004eep.3,p.P517S|uc004eeq.3,p.P563S|ENST00000373165,p.P517S|ENST00000542798,p.P359S|uc011mqy.1,p.P116S|ENST00000395402,p.P525S|NM_021998,p.P517S	protein_coding	uc011mqy.1	nonsynonymous SNV	exon3	c.C346T	p.P116S	HVCVECGKGFRHPSELKKHMRTHTG	HVCVECGKGFRHSSELKKHMRTHTG	2.0	10.0	-	-	3903_X:84526097-84526097 C>T_HVCVECGKGFRHSSELKKHMRTHTG
5:55203252-55203252 G>A	0.0	3903	MELANOMA	-	-	-	-	IL31RA	uc003jqn.3,p.E440K|ENST00000447346,p.E440K|ENST00000396836,p.E440K|uc003jqm.3,p.E421K|uc011cqj.2,p.E298K|NM_139017,p.E440K|NM_001242639,p.E298K|NM_001242638,p.E421K|ENST00000490985,p.E298K|ENST00000359040,p.E440K|NM_001297572,p.E298K|ENST00000297015,p.E298K|NM_001242636,p.E421K|uc003jql.3,p.E440K|ENST00000354961,p.E421K|uc010iwa.1,p.E408K|NM_001242637,p.E440K|uc021xyq.1,p.E421K|uc003jqo.3,p.E298K|ENST00000396834,p.E421K|NM_001297570,p.E440K|uc003jqk.3,p.E440K	protein_coding	uc021xyq.1	nonsynonymous SNV	exon10	c.G1261A	p.E421K	ISVYPMLHDKVGEPYSIQAYAKEGV	ISVYPMLHDKVGKPYSIQAYAKEGV	2.0	1.0	unscreened	-	3903_5:55203252-55203252 G>A_ISVYPMLHDKVGKPYSIQAYAKEGV
7:82451994-82451994 G>A	1.0	3903	MELANOMA	-	-	-	-	PCLO	uc003uht.1,p.P312S|uc003uhu.1,p.P291S|uc003uhv.2,p.P4870S|NM_014510,p.P4870S|ENST00000333891,p.P4870S|ENST00000423517,p.P4870S|NM_033026,p.P4870S|uc003uhx.2,p.P4870S	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon20	c.C14608T	p.P4870S	GIFPDPSKDMQVPTIEKSHSSPGSS	GIFPDPSKDMQVSTIEKSHSSPGSS	5.0	10.0	-	-	3903_7:82451994-82451994 G>A_GIFPDPSKDMQVSTIEKSHSSPGSS
3:119445098-119445098 C>T	0.0	3903	MELANOMA	-	-	-	-	MAATS1	NM_033364,p.P255S|uc011bjd.2,p.P129S|uc010hra.2,p.P16S|uc010hqy.2,p.P255S|uc010hqz.3,p.P193S|ENST00000273390,p.P255S|uc003ede.4,p.P255S|uc011bje.2,p.P235S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bje.2	nonsynonymous SNV	exon7	c.C703T	p.P235S	RAREKRAWEASLPALSDTSQFEKRR	RAREKRAWEASLSALSDTSQFEKRR	1.0	2.0	-	-	3903_3:119445098-119445098 C>T_RAREKRAWEASLSALSDTSQFEKRR
1:9642542-9642542 G>A	1.0	3903	MELANOMA	-	-	-	-	SLC25A33	uc001apw.3,p.E317K|ENST00000302692,p.E317K|NM_032315,p.E317K	protein_coding	uc001apw.3	nonsynonymous SNV	exon7	c.G949A	p.E317K	VLSTYELIVYLLEDRTQ	VLSTYELIVYLLKDRTQ	8.0	1.0	unscreened	-	3903_1:9642542-9642542 G>A_VLSTYELIVYLLKDRTQ
X:153881755-153881755 G>A	1.0	3903	MELANOMA	-	-	ID=COSM3406168,COSM3406166,COSM3406167;OCCURENCE=1(central_nervous_system)	-	CTAG2	NM_172377,p.T12M|NM_020994,p.T12M	protein_coding	NM_172377	nonsynonymous SNV	exon1	c.C35T	p.T12M	MQAEGRGTGGSTGDADGPGGPGIP	MQAEGRGTGGSMGDADGPGGPGIP	5.0	10.0	unscreened	-	3903_X:153881755-153881755 G>A_MQAEGRGTGGSMGDADGPGGPGIP
4:189012598-189012598 C>T	0.0	3903	MELANOMA	-	-	-	-	TRIML2	NM_173553,p.G365R|uc003izl.2,p.G365R|uc003izj.1,p.G193R|ENST00000512729,p.G365R|uc011cle.1,p.G440R|ENST00000326754,p.G390R|uc003izk.1,p.G173R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cle.1	nonsynonymous SNV	exon8	c.G1318A	p.G440R	ALRPVFSLCIPNGDTSPDSLTILQH	ALRPVFSLCIPNRDTSPDSLTILQH	1.0	8.0	-	-	3903_4:189012598-189012598 C>T_ALRPVFSLCIPNRDTSPDSLTILQH
19:16860874-16860874 G>A	0.0	3903	MELANOMA	-	-	-	-	NWD1	ENST00000339803,p.G339E|uc002neu.4,p.G474E|ENST00000552788,p.G474E|ENST00000549814,p.G474E|ENST00000524140,p.G474E|NM_001290355,p.G339E|ENST00000379808,p.G474E|uc002nev.4,p.G268E|NM_001007525,p.G474E|ENST00000523826,p.G268E|uc002net.4,p.G339E	protein_coding, nonsense_mediated_decay	uc002nev.4	nonsynonymous SNV	exon5	c.G803A	p.G268E	VHLILSACSGALGVLDTLQRVLLDP	VHLILSACSGALEVLDTLQRVLLDP	1.0	3.0	-	-	3903_19:16860874-16860874 G>A_VHLILSACSGALEVLDTLQRVLLDP
21:10933861-10933861 C>T	0.0	3903	MELANOMA	-	-	-	-	TPTE	NM_199259,p.G322R|ENST00000361285,p.G340R|ENST00000298232,p.G322R|uc002yiq.1,p.G322R|uc002yip.1,p.G340R|NM_001290224,p.G202R|NM_199260,p.G302R|uc010gkv.1,p.G202R|NM_199261,p.G340R|ENST00000342420,p.G302R|uc002yir.1,p.G302R	protein_coding, processed_transcript	uc010gkv.1	nonsynonymous SNV	exon12	c.G604A	p.G202R	QDLENIVAIHCKGGTDRTGTMVCAF	QDLENIVAIHCKRGTDRTGTMVCAF	1.0	1.0	unscreened	-	3903_21:10933861-10933861 C>T_QDLENIVAIHCKRGTDRTGTMVCAF
6:38790796-38790796 G>A	0.0	3903	MELANOMA	-	-	ID=COSM187367,COSM187366;OCCURENCE=1(large_intestine),1(lung)	-	DNAH8	uc003ooe.2,p.D1019N|ENST00000359357,p.D1019N|NM_001206927,p.D1236N|ENST00000327475,p.D1224N|ENST00000449981,p.D1236N|uc021yzh.1,p.D1236N|ENST00000441566,p.D1019N	protein_coding	uc021yzh.1	nonsynonymous SNV	exon27	c.G3706A	p.D1236N	FQKYKTLWTEDRDVKVKEFLANNPS	FQKYKTLWTEDRNVKVKEFLANNPS	1.0	9.0	unscreened	-	3903_6:38790796-38790796 G>A_FQKYKTLWTEDRNVKVKEFLANNPS
X:3239947-3239947 G>A	0.0	3903	MELANOMA	-	-	-	-	MXRA5	uc004crg.4,p.S1260F|ENST00000217939,p.S1260F|NM_015419,p.S1260F	protein_coding	uc004crg.4	nonsynonymous SNV	exon5	c.C3779T	p.S1260F	VSSRASGSKPSPSPENKHRNIVTPS	VSSRASGSKPSPFPENKHRNIVTPS	5.0	10.0	-	-	3903_X:3239947-3239947 G>A_VSSRASGSKPSPFPENKHRNIVTPS
6:33134516-33134516 G>A	1.0	3903	MELANOMA	-	-	-	-	COL11A2	NM_080681,p.P1354L|ENST00000374708,p.P1354L|ENST00000374714,p.P1414L|ENST00000374712,p.P1359L|ENST00000374713,p.P1393L|ENST00000357486,p.P1419L|uc003ocy.1,p.P1354L|ENST00000361917,p.P1333L|NM_080679,p.P1333L|uc003ocx.1,p.P1440L|NM_080680,p.P1440L|uc003ocz.1,p.P1333L|ENST00000341947,p.P1440L|ENST00000395197,p.P1380L	protein_coding, processed_transcript	uc003ocz.1	nonsynonymous SNV	exon56	c.C3998T	p.P1333L	KGDRGLPGPQGSPGQKGEMGIPGAS	KGDRGLPGPQGSLGQKGEMGIPGAS	10.0	8.0	-	-	3903_6:33134516-33134516 G>A_KGDRGLPGPQGSLGQKGEMGIPGAS
16:48149423-48149423 G>A	0.0	3903	MELANOMA	-	-	-	-	ABCC12	ENST00000529084,p.R607W|ENST00000416054,p.R607W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000529084	nonsynonymous SNV	exon14	c.C1819T	p.R607W	PTVSSTCWTTPCRPWTPTWGSTSLR	PTVSSTCWTTPCWPWTPTWGSTSLR	1.0	6.0	unscreened	-	3903_16:48149423-48149423 G>A_PTVSSTCWTTPCWPWTPTWGSTSLR
12:18552696-18552696 G>A	0.0	3903	MELANOMA	-	-	-	-	PIK3C2G	ENST00000538779,p.E744K|uc010sic.2,p.E522K|NM_001288772,p.E744K|ENST00000433979,p.E703K|uc010sib.2,p.E744K|NM_004570,p.E703K|NM_001288774,p.E522K|uc001rdt.3,p.E703K|ENST00000266497,p.E703K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010sic.2	nonsynonymous SNV	exon15	c.G1564A	p.E522K	LPLVLGSAPGWDERTVSEMHTILRR	LPLVLGSAPGWDKRTVSEMHTILRR	1.0	3.0	-	-	3903_12:18552696-18552696 G>A_LPLVLGSAPGWDKRTVSEMHTILRR
7:128394648-128394648 G>C	1.0	3903	MELANOMA	-	-	-	-	CALU	uc003vns.3,p.W96S|NM_001199672,p.W104S|uc022alh.1,p.W22S|uc022alg.1,p.W22S|ENST00000542996,p.W104S|ENST00000449187,p.W96S|uc022ald.1,p.W104S|NM_001130674,p.W96S	protein_coding	uc022alh.1	nonsynonymous SNV	exon4	c.G65C	p.W22S	KDGFVTEGELKSWIKHAQKKYIYDN	KDGFVTEGELKSSIKHAQKKYIYDN	10.0	2.0	unscreened	-	3903_7:128394648-128394648 G>C_KDGFVTEGELKSSIKHAQKKYIYDN
1:240492409-240492409 A>C	0.0	3903	MELANOMA	-	-	-	-	FMN2	ENST00000545751,p.K13Q|uc010pyg.2,p.K13Q	protein_coding, processed_transcript	uc010pyg.2	nonsynonymous SNV	exon2	c.A37C	p.K13Q	MRAQSDELEKIEKHGRSSKDKENAK	MRAQSDELEKIEQHGRSSKDKENAK	6.0	10.0	unscreened	-	3903_1:240492409-240492409 A>C_MRAQSDELEKIEQHGRSSKDKENAK
1:240492409-240492409 A>C	0.0	3903	MELANOMA	-	-	-	-	FMN2	ENST00000319653,p.K1417Q|ENST00000441342,p.K63Q|uc010pye.2,p.K1421Q|uc010pyd.2,p.K1417Q|NM_020066,p.K1417Q|uc010pyf.1,p.K63Q	protein_coding, processed_transcript	uc010pyf.1	nonsynonymous SNV	exon4	c.A187C	p.K63Q	NRAQSDELEKIEKHGRSSKDKENAK	NRAQSDELEKIEQHGRSSKDKENAK	6.0	10.0	-	-	3903_1:240492409-240492409 A>C_NRAQSDELEKIEQHGRSSKDKENAK
17:42290243-42290243 G>A	1.0	3903	MELANOMA	-	-	-	-	UBTF	NM_014233,p.P202S|ENST00000393606,p.P202S|NM_001076684,p.P202S|ENST00000529383,p.P202S|ENST00000343638,p.P202S|uc010czs.3,p.P202S|ENST00000527034,p.P202S|uc002ige.2,p.P202S|uc002igc.3,p.P202S|NM_001076683,p.P202S|ENST00000526094,p.P202S|ENST00000302904,p.P202S|uc002igd.3,p.P202S|uc010czt.3,p.P202S|ENST00000533177,p.P202S|ENST00000436088,p.P202S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010czt.3	nonsynonymous SNV	exon7	c.C604T	p.P202S	AKKSDIPEKPKTPQQLWYTHEKKVY	AKKSDIPEKPKTSQQLWYTHEKKVY	9.0	5.0	-	-	3903_17:42290243-42290243 G>A_AKKSDIPEKPKTSQQLWYTHEKKVY
19:7677664-7677664 G>A	0.0	3903	MELANOMA	-	-	-	-	CAMSAP3	ENST00000160298,p.R762Q|NM_001080429,p.R789Q|uc002mgv.4,p.R762Q|ENST00000446248,p.R789Q|NM_020902,p.R762Q|uc002mgu.4,p.R789Q	retained_intron, protein_coding	uc002mgv.4	nonsynonymous SNV	exon11	c.G2285A	p.R762Q	TGPKAASPSPARRVPATRRSPGPGP	TGPKAASPSPARQVPATRRSPGPGP	2.0	10.0	unscreened	-	3903_19:7677664-7677664 G>A_TGPKAASPSPARQVPATRRSPGPGP
13:32760504-32760504 C>T	0.0	3903	MELANOMA	-	-	ID=COSM230273;OCCURENCE=1(NS),1(large_intestine)	-	FRY	uc001utx.3,p.R1143C|NM_023037,p.R1143C|ENST00000380250,p.R1143C	protein_coding, processed_transcript, nonsense_mediated_decay	uc001utx.3	nonsynonymous SNV	exon27	c.C3427T	p.R1143C	AGPFSIMFTPLDRYSDRNHQITRYQ	AGPFSIMFTPLDCYSDRNHQITRYQ	4.0	6.0	-	-	3903_13:32760504-32760504 C>T_AGPFSIMFTPLDCYSDRNHQITRYQ
9:35677850-35677850 G>A	1.0	3903	MELANOMA	-	-	-	-	CA9	ENST00000378357,p.E302K|uc003zxo.4,p.E302K|NM_001216,p.E302K	protein_coding, processed_transcript	uc003zxo.4	nonsynonymous SNV	exon6	c.G904A	p.E302K	EQLLSRLEEIAEEGSETQVPGLDIS	EQLLSRLEEIAEKGSETQVPGLDIS	4.0	10.0	-	-	3903_9:35677850-35677850 G>A_EQLLSRLEEIAEKGSETQVPGLDIS
4:113565887-113565889 AAG>-	1.0	3903	MELANOMA	-	-	-	-	LARP7	ENST00000344442,p.21_22del|NM_016648,p.21_22del|ENST00000509061,p.28_29del|ENST00000512589,p.21_22del|uc003iay.4,p.21_22del|NM_001267039,p.28_29del|ENST00000324052,p.21_22del|NM_015454,p.21_22del|uc003iaz.4,p.28_29del|ENST00000505034,p.21_22del|ENST00000507443,p.21_22del|uc003ibb.4,p.21_22del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ibb.4	nonframeshift deletion	exon2	c.62_64del	p.21_22del	EKVMEEESTEKKKEVEKKKRSRVKQ	EKVMEEESTEKKKVEKKKRSRVKQV	9.0	5.0	unscreened	-	3903_4:113565887-113565889 AAG>-_EKVMEEESTEKKKVEKKKRSRVKQV
X:86071073-86071073 G>A	0.0	3903	MELANOMA	-	-	-	-	DACH2	uc010nmr.2,p.G355E|uc010nmq.2,p.G440E|uc004eew.2,p.G574E|uc011mra.1,p.G407E|NM_001139515,p.G407E|NM_053281,p.G574E|ENST00000508860,p.G407E|ENST00000373125,p.G574E|ENST00000510272,p.G355E	protein_coding, processed_transcript, nonsense_mediated_decay	uc011mra.1	nonsynonymous SNV	exon11	c.G1220A	p.G407E	DTGIPDIEIENNGTPHDSAAMQGGN	DTGIPDIEIENNETPHDSAAMQGGN	1.0	10.0	-	-	3903_X:86071073-86071073 G>A_DTGIPDIEIENNETPHDSAAMQGGN
X:86071073-86071073 G>A	0.0	3903	MELANOMA	-	-	-	-	DACH2	uc004eez.3,p.G257E|uc004eex.2,p.G561E|ENST00000373131,p.G561E|uc004eey.3,p.G267E|ENST00000484479,p.G239E|NM_001139514,p.G561E	protein_coding, processed_transcript, nonsense_mediated_decay	uc004eez.3	nonsynonymous SNV	exon6	c.G770A	p.G257E	DTGIPDIEIENNGTPHDSAAMQA	DTGIPDIEIENNETPHDSAAMQA	1.0	10.0	unscreened	-	3903_X:86071073-86071073 G>A_DTGIPDIEIENNETPHDSAAMQA
4:65275050-65275050 G>A	0.0	3903	MELANOMA	-	-	-	-	TECRL	uc003hcv.3,p.S7F|NM_001010874,p.S7F|ENST00000381210,p.S7F|uc003hcw.3,p.S7F|ENST00000507440,p.S7F|ENST00000509536,p.S7F	retained_intron, protein_coding, processed_transcript	uc003hcw.3	nonsynonymous SNV	exon1	c.C20T	p.S7F	MFKRHKSLASERKRALLSQ	MFKRHKFLASERKRALLSQ	1.0	9.0	-	-	3903_4:65275050-65275050 G>A_MFKRHKFLASERKRALLSQ
6:30955865-30955865 G>A	0.0	3903	MELANOMA	-	-	-	-	MUC21	ENST00000376296,p.G532E|uc021yuf.1,p.G516E|NM_001010909,p.G532E|uc003nsh.2,p.G532E|ENST00000486149,p.G78E	protein_coding	uc021yuf.1	nonsynonymous SNV	exon2	c.G1547A	p.G516E	HGLNHGLGPGPGGNHGAPHRPRWSP	HGLNHGLGPGPGENHGAPHRPRWSP	1.0	9.0	-	-	3903_6:30955865-30955865 G>A_HGLNHGLGPGPGENHGAPHRPRWSP
9:90502089-90502089 G>A	0.0	3903	MELANOMA	-	-	-	-	SPATA31E1	NM_178828,p.G896E|uc004app.4,p.G896E|uc004apo.1,p.G708E|ENST00000325643,p.G896E	protein_coding	uc004app.4	nonsynonymous SNV	exon4	c.G2687A	p.G896E	RVESVPKVPIFLGKRPQNGPGDNRT	RVESVPKVPIFLEKRPQNGPGDNRT	1.0	10.0	-	-	3903_9:90502089-90502089 G>A_RVESVPKVPIFLEKRPQNGPGDNRT
10:61834218-61834218 G>A	0.0	3903	MELANOMA	-	-	-	-	ANK3	uc001jky.3,p.P2141S|NM_020987,p.P2141S|ENST00000280772,p.P2141S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jky.3	nonsynonymous SNV	exon37	c.C6421T	p.P2141S	GFETRSEKTPSAPQSAESTGPKPLF	GFETRSEKTPSASQSAESTGPKPLF	4.0	9.0	-	-	3903_10:61834218-61834218 G>A_GFETRSEKTPSASQSAESTGPKPLF
19:7682213-7682213 G>A	0.0	3903	MELANOMA	-	-	-	-	CAMSAP3	uc002mgv.4,p.A1072T|NM_020902,p.A1072T|NM_001080429,p.A1099T|uc002mgu.4,p.A1099T|uc002mgw.3,p.A202T|ENST00000446248,p.A1099T|ENST00000160298,p.A1072T	retained_intron, protein_coding	uc002mgw.3	nonsynonymous SNV	exon4	c.G604A	p.A202T	HNNLGVKRPTSRAPSPSGLMSPSRL	HNNLGVKRPTSRTPSPSGLMSPSRL	2.0	9.0	-	-	3903_19:7682213-7682213 G>A_HNNLGVKRPTSRTPSPSGLMSPSRL
11:60704359-60704359 A>G	1.0	3903	MELANOMA	-	-	-	-	TMEM132A	ENST00000453848,p.R1018G|NM_017870,p.R1019G|NM_178031,p.R1018G|uc001nqi.3,p.R1019G|ENST00000005286,p.R1019G|uc001nqj.3,p.R1018G	retained_intron, protein_coding, processed_transcript	uc001nqj.3	nonsynonymous SNV	exon11	c.A3052G	p.R1018G	LKDPEELRNYMERIRGSS	LKDPEELRNYMEGIRGSS	9.0	4.0	-	-	3903_11:60704359-60704359 A>G_LKDPEELRNYMEGIRGSS
2:228882211-228882211 G>A	0.0	3903	MELANOMA	-	-	-	-	SPHKAP	NM_001142644,p.S1120L|uc010zlx.1,p.S1120L|uc002vpp.2,p.S1120L|NM_030623,p.S1120L|ENST00000344657,p.S1120L|ENST00000392056,p.S1120L|uc002vpq.2,p.S1120L	retained_intron, protein_coding	uc010zlx.1	nonsynonymous SNV	exon7	c.C3359T	p.S1120L	QPVSRASSVSKQSSCESITDEFSRF	QPVSRASSVSKQLSCESITDEFSRF	1.0	9.0	-	-	3903_2:228882211-228882211 G>A_QPVSRASSVSKQLSCESITDEFSRF
2:196673509-196673509 G>A	0.0	3903	MELANOMA	-	-	-	-	DNAH7	uc002utj.4,p.S3327F|ENST00000312428,p.S3327F|NM_018897,p.S3327F	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon53	c.C9980T	p.S3327F	PYANLCTWLPQKSWDEICRLDDLPA	PYANLCTWLPQKFWDEICRLDDLPA	3.0	3.0	-	-	3903_2:196673509-196673509 G>A_PYANLCTWLPQKFWDEICRLDDLPA
19:9087347-9087347 G>A	0.0	3903	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.P1490S|uc002mkp.3,p.P1490S|NM_024690,p.P1490S	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.C4468T	p.P1490S	SPSSPMSTFAIFPPMSTPSHELSKS	SPSSPMSTFAIFSPMSTPSHELSKS	1.0	5.0	-	-	3903_19:9087347-9087347 G>A_SPSSPMSTFAIFSPMSTPSHELSKS
4:155505406-155505406 C>T	0.0	3903	MELANOMA	-	-	-	-	FGA	uc003iod.1,p.G824E|NM_000508,p.G824E|ENST00000302053,p.G824E	protein_coding	uc003iod.1	nonsynonymous SNV	exon6	c.G2471A	p.G824E	CQAANLNGIYYPGGSYDPRNNSPYE	CQAANLNGIYYPEGSYDPRNNSPYE	8.0	6.0	-	-	3903_4:155505406-155505406 C>T_CQAANLNGIYYPEGSYDPRNNSPYE
19:15651457-15651457 G>A	0.0	3903	MELANOMA	-	-	-	-	CYP4F22	uc002nbh.4,p.G290R|ENST00000269703,p.G290R|ENST00000601005,p.G290R|NM_173483,p.G290R	protein_coding	uc002nbh.4	nonsynonymous SNV	exon8	c.G868A	p.G290R	VIQERRRALRQQGAEAWLKAKQGKT	VIQERRRALRQQRAEAWLKAKQGKT	1.0	4.0	-	-	3903_19:15651457-15651457 G>A_VIQERRRALRQQRAEAWLKAKQGKT
11:118307414-118307416 GCG>-	0.0	3903	MELANOMA	-	-	-	1	KMT2A	uc001pta.3,p.63_63del|ENST00000531904,p.63_63del|uc001psz.1,p.63_63del|ENST00000534358,p.63_63del|ENST00000389506,p.63_63del|NM_001197104,p.63_63del|ENST00000354520,p.63_63del|NM_005933,p.63_63del|uc001ptb.3,p.63_63del	retained_intron, protein_coding, processed_transcript	uc001ptb.3	nonframeshift deletion	exon1	c.187_189del	p.63_63del	PGAPPSPPAVAAAAAAAGSSGAGVP	PGAPPSPPAVAAAAAAGSSGAGVPG	6.0	1.0	unscreened	-	3903_11:118307414-118307416 GCG>-_PGAPPSPPAVAAAAAAGSSGAGVPG
2:215835040-215835040 C>T	0.0	3903	MELANOMA	-	-	ID=COSM226040;OCCURENCE=1(NS)	-	ABCA12	uc010zjn.2,p.E810K|uc002vev.3,p.E1565K|ENST00000389661,p.E1565K|uc002vew.3,p.E1883K|NM_015657,p.E1565K|ENST00000272895,p.E1883K|NM_173076,p.E1883K	protein_coding	uc010zjn.2	nonsynonymous SNV	exon39	c.G2428A	p.E810K	SQVIYNLTGQRVENYLISTANEFVQ	SQVIYNLTGQRVKNYLISTANEFVQ	1.0	2.0	-	-	3903_2:215835040-215835040 C>T_SQVIYNLTGQRVKNYLISTANEFVQ
6:12164360-12164360 G>A	1.0	3903	MELANOMA	-	-	ID=COSM1739277;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	HIVEP1	ENST00000541134,p.R473Q|uc003nac.3,p.R2608Q|NM_002114,p.R2608Q|ENST00000379388,p.R2608Q	protein_coding, nonsense_mediated_decay	uc003nac.3	nonsynonymous SNV	exon9	c.G7823A	p.R2608Q	RTESPQGLPTVQRENAKKVLNPPAP	RTESPQGLPTVQQENAKKVLNPPAP	7.0	1.0	-	-	3903_6:12164360-12164360 G>A_RTESPQGLPTVQQENAKKVLNPPAP
X:92964801-92964801 G>A	1.0	3903	MELANOMA	-	-	-	-	FAM133A	ENST00000322139,p.G128E|NM_001171109,p.G128E|ENST00000538690,p.G128E|NM_001171111,p.G128E|uc022bzu.1,p.G128E|NM_173698,p.G128E|uc022bzv.1,p.G128E|uc022bzx.1,p.G128E|ENST00000355813,p.G128E|ENST00000332647,p.G128E|NM_001171110,p.G128E|uc004efr.2,p.G128E|uc022bzw.1,p.G128E	protein_coding	uc022bzx.1	nonsynonymous SNV	exon1	c.G383A	p.G128E	SSSDSEDEEKKQGKRRKKKKNRSYK	SSSDSEDEEKKQEKRRKKKKNRSYK	5.0	10.0	-	-	3903_X:92964801-92964801 G>A_SSSDSEDEEKKQEKRRKKKKNRSYK
1:70705126-70705126 G>T	1.0	3903	MELANOMA	-	-	-	-	SRSF11	NM_001190987,p.K241N|NM_004768,p.K241N|ENST00000370949,p.K181N|uc001det.3,p.K241N|ENST00000370950,p.K241N|uc001deu.2,p.K241N|ENST00000405432,p.K241N|uc001des.3,p.K241N|ENST00000370951,p.K241N|ENST00000395136,p.K241N|uc001dev.3,p.K51N	protein_coding, processed_transcript	uc001dev.3	nonsynonymous SNV	exon6	c.G153T	p.K51N	AQSLISAAIEPDKKEEKRRHSRSRS	AQSLISAAIEPDNKEEKRRHSRSRS	10.0	2.0	unscreened	-	3903_1:70705126-70705126 G>T_AQSLISAAIEPDNKEEKRRHSRSRS
6:9769287-9769287 C>T	0.0	3903	MELANOMA	-	-	-	-	LOC100506207,TFAP2A	uc003myh.1,p.G189E|uc010jog.1,p.G125E|ENST00000460363,p.G189E|uc003myj.1,p.G143E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010jog.1	nonsynonymous SNV	exon6	c.G374A	p.G125E	NLLEEDDELHSQGDSLTDHSVKGKS	NLLEEDDELHSQEDSLTDHSVKGKS	2.0	1.0	unscreened	-	3903_6:9769287-9769287 C>T_NLLEEDDELHSQEDSLTDHSVKGKS
7:100641922-100641922 C>G	0.0	3903	MELANOMA	-	-	-	-	MUC12	NM_001164462,p.P2693R|ENST00000379442,p.P2836R|ENST00000536621,p.P2693R|uc003uxo.3,p.P2693R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.C8078G	p.P2693R	GVGEESTTSRSQPGSTHSTVSPAST	GVGEESTTSRSQRGSTHSTVSPAST	3.0	1.0	unscreened	-	3903_7:100641922-100641922 C>G_GVGEESTTSRSQRGSTHSTVSPAST
1:24447485-24447485 G>A	0.0	3903	MELANOMA	-	-	ID=COSM1179381;OCCURENCE=1(prostate)	-	IL22RA1	ENST00000270800,p.P512L|uc009vrb.2,p.P376L|NM_021258,p.P512L|uc010oeg.1,p.P444L|uc001biq.2,p.P512L	protein_coding	uc010oeg.1	nonsynonymous SNV	exon5	c.C1331T	p.P444L	SSVQIEGHPMSLPLQPPSRPCSPSD	SSVQIEGHPMSLLLQPPSRPCSPSD	1.0	8.0	-	-	3903_1:24447485-24447485 G>A_SSVQIEGHPMSLLLQPPSRPCSPSD
7:31016071-31016071 G>A	0.0	3903	MELANOMA	-	-	-	-	GHRHR	ENST00000409316,p.D101N|uc003tbz.3,p.D101N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003tbz.3	nonsynonymous SNV	exon8	c.G301A	p.D101N	SVLASLQVDTFPDPTLWNSLHHLQL	SVLASLQVDTFPNPTLWNSLHHLQL	1.0	5.0	unscreened	-	3903_7:31016071-31016071 G>A_SVLASLQVDTFPNPTLWNSLHHLQL
1:183201389-183201389 G>A	0.0	3903	MELANOMA	-	-	-	-	LAMC2	NM_005562,p.G642E|ENST00000264144,p.G642E|uc010poa.2,p.G342E|uc001gpz.4,p.G642E|uc001gqa.2,p.G642E|NM_018891,p.G642E|ENST00000493293,p.G642E	protein_coding, processed_transcript	uc010poa.2	nonsynonymous SNV	exon13	c.G1025A	p.G342E	MEALISKAQGGDGVVPDTELEGRMQ	MEALISKAQGGDEVVPDTELEGRMQ	2.0	1.0	unscreened	-	3903_1:183201389-183201389 G>A_MEALISKAQGGDEVVPDTELEGRMQ
12:70330305-70330305 C>T	0.0	3903	MELANOMA	-	-	-	-	RAB3IP,LINC01481	uc010stn.1,p.P71L|ENST00000299350,p.P71L|ENST00000552032,p.P706L|uc001svu.1,p.P71L|ENST00000547771,p.P695L|ENST00000535034,p.P71L	protein_coding, nonsense_mediated_decay	uc010stn.1	nonsynonymous SNV	exon4	c.C212T	p.P71L	LQVPEITFCEILPCQETYCCPIRGM	LQVPEITFCEILLCQETYCCPIRGM	1.0	4.0	-	-	3903_12:70330305-70330305 C>T_LQVPEITFCEILLCQETYCCPIRGM
22:24562946-24562946 C>T	1.0	3903	MELANOMA	-	-	-	-	CABIN1	uc002zzl.2,p.R1783C|ENST00000337989,p.R208C|NM_001201429,p.R1733C|ENST00000405822,p.R1704C|ENST00000263119,p.R1783C|NM_001199281,p.R1783C|ENST00000398319,p.R1783C|uc002zzm.1,p.R208C|uc021wnc.1,p.R1733C|NM_012295,p.R1783C|uc002zzj.1,p.R1704C|uc002zzi.1,p.R1783C	retained_intron, protein_coding, processed_transcript	uc021wnc.1	nonsynonymous SNV	exon31	c.C5197T	p.R1733C	SDLERTPPLLPGRPARDRGPESRPT	SDLERTPPLLPGCPARDRGPESRPT	9.0	7.0	-	-	3903_22:24562946-24562946 C>T_SDLERTPPLLPGCPARDRGPESRPT
12:53088432-53088432 G>A	0.0	3903	MELANOMA	-	-	-	-	KRT77	NM_175078,p.A353V|ENST00000341809,p.A353V|uc001saw.3,p.A353V|ENST00000537195,p.A120V|uc009zmi.3,p.A111V	retained_intron, protein_coding, nonsense_mediated_decay	uc009zmi.3	nonsynonymous SNV	exon6	c.C332T	p.A111V	QYELIAQRSKDEAEALYQTKYQELQ	QYELIAQRSKDEVEALYQTKYQELQ	1.0	8.0	-	-	3903_12:53088432-53088432 G>A_QYELIAQRSKDEVEALYQTKYQELQ
17:28323378-28323378 G>A	0.0	3903	MELANOMA	-	-	-	-	EFCAB5	uc002het.3,p.G325R|uc010wbj.2,p.G269R|uc010cse.3,p.G204R|NM_001145053,p.G269R|uc010csf.3,p.G204R|NM_198529,p.G325R|uc010wbi.1,p.G68R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wbj.2	nonsynonymous SNV	exon6	c.G805A	p.G269R	LQEFFQNPDFKLGSHCKQLDITDST	LQEFFQNPDFKLRSHCKQLDITDST	4.0	1.0	-	-	3903_17:28323378-28323378 G>A_LQEFFQNPDFKLRSHCKQLDITDST
6:30995080-30995080 G>C	0.0	3903	MELANOMA	-	-	-	-	MUC22	ENST00000561890,p.E624D|uc021yug.1,p.E624D|uc021yuh.1,p.E627D|NM_001198815,p.E624D	protein_coding	uc021yuh.1	nonsynonymous SNV	exon3	c.G1881C	p.E627D	GSETSTDSTTGSETTTASTEGSETT	GSETSTDSTTGSDTTTASTEGSETT	1.0	1.0	unscreened	-	3903_6:30995080-30995080 G>C_GSETSTDSTTGSDTTTASTEGSETT
7:81603840-81603840 C>T	0.0	3903	MELANOMA	-	-	-	-	CACNA2D1	NM_000722,p.D662N|ENST00000356860,p.D662N|uc003uhr.1,p.D662N|ENST00000356253,p.D674N	retained_intron, protein_coding, processed_transcript	uc003uhr.1	nonsynonymous SNV	exon25	c.G1984A	p.D662N	APRDYCNDLKISDNNTEFLLNFNEF	APRDYCNDLKISNNNTEFLLNFNEF	4.0	3.0	-	-	3903_7:81603840-81603840 C>T_APRDYCNDLKISNNNTEFLLNFNEF
1:183201387-183201388 TG>-	0.0	3903	MELANOMA	-	-	-	-	LAMC2	NM_018891,p.D641fs|ENST00000264144,p.D641fs|uc001gpz.4,p.D641fs|ENST00000493293,p.D641fs|uc010poa.2,p.D341fs|uc001gqa.2,p.D641fs|NM_005562,p.D641fs	protein_coding, processed_transcript	uc010poa.2	frameshift deletion	exon13	c.1023_1024del	p.D341fs	RMEALISKAQGGDGVVPDTELEGRM	RMEALISKAQGGESST	2.0	1.0	unscreened	-	3903_1:183201387-183201388 TG>-_RMEALISKAQGGESST
12:8375098-8375098 C>G	1.0	3903	MELANOMA	-	-	-	-	FAM90A1	uc001qui.2,p.E239Q|ENST00000538603,p.E239Q|ENST00000307435,p.E239Q|uc001quh.2,p.E239Q|NM_018088,p.E239Q	protein_coding	uc001qui.2	nonsynonymous SNV	exon7	c.G715C	p.E239Q	KPTHSSPAGGCREVPQAASKTHGLL	KPTHSSPAGGCRQVPQAASKTHGLL	3.0	1.0	unscreened	-	3903_12:8375098-8375098 C>G_KPTHSSPAGGCRQVPQAASKTHGLL
6:38994399-38994399 G>A	0.0	3903	MELANOMA	-	-	ID=COSM1697165,COSM1697166;OCCURENCE=1(skin)	-	DNAH8	ENST00000441566,p.E4345K|ENST00000359357,p.E4381K|NM_001206927,p.E4598K|uc003ooe.2,p.E4381K|uc021yzh.1,p.E4598K|ENST00000327475,p.E4586K	protein_coding	uc021yzh.1	nonsynonymous SNV	exon92	c.G13792A	p.E4598K	KGWALDTVTIHNEVLRQTKEEITSP	KGWALDTVTIHNKVLRQTKEEITSP	1.0	9.0	-	-	3903_6:38994399-38994399 G>A_KGWALDTVTIHNKVLRQTKEEITSP
3:32525520-32525520 C>T	1.0	3903	MELANOMA	-	-	-	-	CMTM6	uc003cfa.1,p.E162K|ENST00000205636,p.E162K|NM_017801,p.E162K	retained_intron, protein_coding	uc003cfa.1	nonsynonymous SNV	exon4	c.G484A	p.E162K	LDFITMLYEKRQESQLRKPENTTRA	LDFITMLYEKRQKSQLRKPENTTRA	9.0	3.0	-	-	3903_3:32525520-32525520 C>T_LDFITMLYEKRQKSQLRKPENTTRA
3:127800202-127800202 C>T	1.0	3903	MELANOMA	-	-	-	-	RUVBL1	ENST00000322623,p.G421E|ENST00000478892,p.G232E|uc003ekh.3,p.G421E|NM_003707,p.G421E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ekh.3	nonsynonymous SNV	exon11	c.G1262A	p.G421E	LLTPANLLAKINGKDSIEKEHVEEI	LLTPANLLAKINEKDSIEKEHVEEI	10.0	3.0	-	-	3903_3:127800202-127800202 C>T_LLTPANLLAKINEKDSIEKEHVEEI
3:99569271-99569271 C>T	0.0	3903	MELANOMA	-	-	-	-	FILIP1L	uc003dtp.1,p.V177I|ENST00000331335,p.V417I|uc021xbr.1,p.V177I|uc003dto.3,p.V417I|uc010hpg.3,p.V177I|NM_014890,p.V177I|ENST00000383694,p.V177I|ENST00000471562,p.V177I|uc003dtm.3,p.V417I|NM_001282794,p.V177I|ENST00000495625,p.V177I|NM_182909,p.V417I|uc003dtn.3,p.V177I|NM_001042459,p.V417I|ENST00000354552,p.V417I	protein_coding, processed_transcript	uc021xbr.1	nonsynonymous SNV	exon1	c.G529A	p.V177I	RETLQSKDFKLEVEKLSKRIMALEK	RETLQSKDFKLEIEKLSKRIMALEK	6.0	5.0	-	-	3903_3:99569271-99569271 C>T_RETLQSKDFKLEIEKLSKRIMALEK
1:152128229-152128229 G>A	0.0	3903	MELANOMA	-	-	-	-	RPTN	ENST00000316073,p.S449F|uc001ezs.1,p.S449F|NM_001122965,p.S449F	protein_coding	uc001ezs.1	nonsynonymous SNV	exon3	c.C1346T	p.S449F	SHYGQPDRQGQNSHYGQTDRQGQSS	SHYGQPDRQGQNFHYGQTDRQGQSS	1.0	3.0	unscreened	-	3903_1:152128229-152128229 G>A_SHYGQPDRQGQNFHYGQTDRQGQSS
7:126173719-126173719 G>A	0.0	3903	MELANOMA	-	-	-	-	GRM8	uc003vlr.2,p.P573S|NM_000845,p.P573S|uc003vlt.2,p.P573S|ENST00000358373,p.P573S|ENST00000339582,p.P573S|ENST00000472701,p.P573S|ENST00000444921,p.P573S|NM_001127323,p.P573S	protein_coding, processed_transcript, nonsense_mediated_decay	uc003vlt.2	nonsynonymous SNV	exon9	c.C1717T	p.P573S	RPNMNRTGCQLIPIIKLEWHSPWAV	RPNMNRTGCQLISIIKLEWHSPWAV	1.0	5.0	-	-	3903_7:126173719-126173719 G>A_RPNMNRTGCQLISIIKLEWHSPWAV
7:36423537-36423537 C>T	0.0	3903	MELANOMA	-	-	-	-	KIAA0895	ENST00000429651,p.G37R|uc003tfd.2,p.G37R|NM_001100425,p.G37R|ENST00000297063,p.G37R	retained_intron, protein_coding, processed_transcript	uc003tfd.2	nonsynonymous SNV	exon2	c.G109A	p.G37R	RWKRWFKFRKRKGEKRPRPNHKAVA	RWKRWFKFRKRKREKRPRPNHKAVA	6.0	1.0	-	-	3903_7:36423537-36423537 C>T_RWKRWFKFRKRKREKRPRPNHKAVA
1:158815650-158815650 G>A	0.0	3903	MELANOMA	-	-	-	-	MNDA	uc001fsz.1,p.E282K|ENST00000368141,p.E282K|NM_002432,p.E282K	protein_coding, processed_transcript	uc001fsz.1	nonsynonymous SNV	exon5	c.G844A	p.E282K	DYSECKGVMEIKEASSVSDFNQNFE	DYSECKGVMEIKKASSVSDFNQNFE	7.0	4.0	-	-	3903_1:158815650-158815650 G>A_DYSECKGVMEIKKASSVSDFNQNFE
6:30995078-30995078 G>A	0.0	3903	MELANOMA	-	-	-	-	MUC22	ENST00000561890,p.E624K|NM_001198815,p.E624K|uc021yuh.1,p.E627K|uc021yug.1,p.E624K	protein_coding	uc021yuh.1	nonsynonymous SNV	exon3	c.G1879A	p.E627K	GSETSTDSTTGSETTTASTEGSETT	GSETSTDSTTGSKTTTASTEGSETT	1.0	1.0	unscreened	-	3903_6:30995078-30995078 G>A_GSETSTDSTTGSKTTTASTEGSETT
19:56435974-56435974 C>T	0.0	3903	MELANOMA	0.0032	-	-	-	NLRP13	ENST00000588751,p.E147K|ENST00000342929,p.E147K|uc010ygg.2,p.E147K|NM_176810,p.E147K	protein_coding	uc010ygg.2	nonsynonymous SNV	exon3	c.G439A	p.E147K	QGCQDPNQEELDELEEETGNVQAQG	QGCQDPNQEELDKLEEETGNVQAQG	1.0	8.0	-	-	3903_19:56435974-56435974 C>T_QGCQDPNQEELDKLEEETGNVQAQG
3:32181729-32181729 G>A	1.0	3903	MELANOMA	-	-	-	-	GPD1L	ENST00000431009,p.E87K|NM_015141,p.E126K|ENST00000429432,p.E87K|uc003cew.3,p.E126K|ENST00000282541,p.E126K	retained_intron, protein_coding, nonsense_mediated_decay	uc003cew.3	nonsynonymous SNV	exon4	c.G376A	p.E126K	KALGITLIKGIDEGPEGLKLISDII	KALGITLIKGIDKGPEGLKLISDII	6.0	8.0	-	-	3903_3:32181729-32181729 G>A_KALGITLIKGIDKGPEGLKLISDII
3:32181729-32181729 G>A	1.0	3903	MELANOMA	-	-	-	-	GPD1L	ENST00000425459,p.E79K	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000425459	nonsynonymous SNV	exon3	c.G235A	p.E79K	PGHKLPENVGIDEGPEGLKLISDII	PGHKLPENVGIDKGPEGLKLISDII	6.0	8.0	unscreened	-	3903_3:32181729-32181729 G>A_PGHKLPENVGIDKGPEGLKLISDII
5:74930784-74930784 T>C	0.0	3903	MELANOMA	-	-	-	-	ANKDD1B	uc031ski.1,p.L221P|ENST00000601380,p.L221P|NM_001276713,p.L221P	retained_intron, protein_coding, processed_transcript	uc031ski.1	nonsynonymous SNV	exon6	c.T662C	p.L221P	AAERGHVEMIEKLTFLNLHTSEKDK	AAERGHVEMIEKPTFLNLHTSEKDK	3.0	3.0	-	-	3903_5:74930784-74930784 T>C_AAERGHVEMIEKPTFLNLHTSEKDK
7:7559731-7559731 G>A	0.0	3903	MELANOMA	-	-	-	-	COL28A1	ENST00000399429,p.P259S|NM_001037763,p.P259S|uc003src.1,p.P259S	retained_intron, protein_coding, nonsense_mediated_decay	uc003src.1	nonsynonymous SNV	exon6	c.C775T	p.P259S	PGDPGPPGTHGNPGIKGERGPKGNP	PGDPGPPGTHGNSGIKGERGPKGNP	3.0	1.0	-	-	3903_7:7559731-7559731 G>A_PGDPGPPGTHGNSGIKGERGPKGNP
5:132559898-132559898 G>A	0.0	3903	MELANOMA	-	-	-	-	FSTL4	uc003kym.1,p.S48F	retained_intron, protein_coding, processed_transcript	uc003kym.1	nonsynonymous SNV	exon3	c.C143T	p.S48F	SLKTQLERPLQTSCGERKELHLVPA	SLKTQLERPLQTFCGERKELHLVPA	3.0	6.0	unscreened	-	3903_5:132559898-132559898 G>A_SLKTQLERPLQTFCGERKELHLVPA
8:113353733-113353733 T>C	0.0	3903	MELANOMA	-	-	-	2	CSMD3	uc011lhx.2,p.K2105E|NM_052900,p.K2105E|ENST00000343508,p.K2169E|ENST00000455883,p.K2105E|uc003ynt.3,p.K2169E|NM_198123,p.K2209E|ENST00000339701,p.K1479E|uc003ynu.3,p.K2209E|uc003yns.3,p.K1411E|ENST00000297405,p.K2209E|NM_198124,p.K2169E|ENST00000352409,p.K2139E	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon41	c.A6313G	p.K2105E	TSLYFHSDYSQNKQGFHIVYQAYQL	TSLYFHSDYSQNEQGFHIVYQAYQL	1.0	5.0	-	-	3903_8:113353733-113353733 T>C_TSLYFHSDYSQNEQGFHIVYQAYQL
12:48962891-48962891 C>T	0.0	3903	MELANOMA	-	-	-	-	LALBA	ENST00000549817,p.R89K|ENST00000301046,p.R89K|NM_002289,p.R89K|uc001rrt.3,p.R89K	protein_coding	uc001rrt.3	nonsynonymous SNV	exon2	c.G266A	p.R89K	KLWCKSSQVPQSRNICDISCDKFLD	KLWCKSSQVPQSKNICDISCDKFLD	1.0	9.0	-	-	3903_12:48962891-48962891 C>T_KLWCKSSQVPQSKNICDISCDKFLD
17:28651918-28651918 C>T	0.0	3903	MELANOMA	-	-	-	-	TMIGD1	NM_206832,p.E186K|uc010csh.1,p.E186K|uc002hfa.1,p.E186K|ENST00000328886,p.E186K|ENST00000538566,p.E186K	protein_coding	uc010csh.1	nonsynonymous SNV	exon4	c.G556A	p.E186K	TSESFQLSITKVEKPDNGTYSCIAK	TSESFQLSITKVKKPDNGTYSCIAK	1.0	9.0	-	-	3903_17:28651918-28651918 C>T_TSESFQLSITKVKKPDNGTYSCIAK
17:33319646-33319646 G>A	1.0	3903	MELANOMA	-	-	-	-	LIG3	ENST00000262327,p.E464K|ENST00000585941,p.E473K|uc002hik.2,p.E464K|ENST00000378526,p.E464K|NM_002311,p.E464K|uc010cth.1,p.E473K|NM_013975,p.E464K|uc002hij.3,p.E464K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cth.1	nonsynonymous SNV	exon8	c.G1417A	p.E473K	ERVLHNAQEVEKEPGQRRALSVQAS	ERVLHNAQEVEKKPGQRRALSVQAS	8.0	2.0	-	-	3903_17:33319646-33319646 G>A_ERVLHNAQEVEKKPGQRRALSVQAS
2:166246105-166246105 G>A	0.0	3903	MELANOMA	-	-	-	-	SCN2A	ENST00000283256,p.S1930N|ENST00000375427,p.S1930N|NM_001040143,p.S1930N|uc002udc.3,p.S1930N|NM_021007,p.S1930N|ENST00000375437,p.S1930N|ENST00000357398,p.S1930N|uc002udd.3,p.S1930N|uc002ude.3,p.S1930N|uc021vry.1,p.S430N|NM_001040142,p.S1930N	retained_intron, protein_coding	uc021vry.1	nonsynonymous SNV	exon3	c.G1289A	p.S430N	RYLLKQKVKKVSSIYKKDKGKECDG	RYLLKQKVKKVSNIYKKDKGKECDG	4.0	9.0	-	-	3903_2:166246105-166246105 G>A_RYLLKQKVKKVSNIYKKDKGKECDG
1:62740093-62740093 A>T	0.0	3903	MELANOMA	-	-	-	-	KANK4	NM_181712,p.V228D|ENST00000371153,p.V228D|uc001dah.4,p.V228D	protein_coding	uc001dah.4	nonsynonymous SNV	exon3	c.T683A	p.V228D	SSPRASTRIPELVQEGAEPPEGVVK	SSPRASTRIPELDQEGAEPPEGVVK	1.0	9.0	-	-	3903_1:62740093-62740093 A>T_SSPRASTRIPELDQEGAEPPEGVVK
2:141680548-141680548 G>A	0.0	3903	MELANOMA	-	-	-	1	LRP1B	NM_018557,p.S1102F|ENST00000389484,p.S1102F|ENST00000434794,p.S247F|uc002tvj.1,p.S1102F|uc010fnl.1,p.S284F	protein_coding, processed_transcript	uc010fnl.1	nonsynonymous SNV	exon6	c.C851T	p.S284F	GTIRLCDHKTKFSCWSTGRCINKAW	GTIRLCDHKTKFFCWSTGRCINKAW	1.0	3.0	-	-	3903_2:141680548-141680548 G>A_GTIRLCDHKTKFFCWSTGRCINKAW
17:7700524-7700524 G>A	0.0	3903	MELANOMA	-	-	-	-	DNAH2	ENST00000572933,p.D2632N|ENST00000389173,p.D2632N|uc002giu.1,p.D2632N|NM_020877,p.D2632N	retained_intron, protein_coding, nonsense_mediated_decay	uc002giu.1	nonsynonymous SNV	exon50	c.G7894A	p.D2632N	SKVFQGMLRANKDFHDTKSSITRLW	SKVFQGMLRANKNFHDTKSSITRLW	4.0	9.0	-	-	3903_17:7700524-7700524 G>A_SKVFQGMLRANKNFHDTKSSITRLW
10:135032455-135032455 C>T	0.0	3903	MELANOMA	0.0005	-	ID=COSM325647;OCCURENCE=1(lung)	-	KNDC1	ENST00000368572,p.P1602S|uc001llz.1,p.P1600S|NM_152643,p.P1600S|ENST00000304613,p.P1600S	retained_intron, protein_coding, processed_transcript	uc001llz.1	nonsynonymous SNV	exon27	c.C4798T	p.P1600S	LSGLEHLAVRQSPAWRILPAKIAEV	LSGLEHLAVRQSSAWRILPAKIAEV	1.0	5.0	-	-	3903_10:135032455-135032455 C>T_LSGLEHLAVRQSSAWRILPAKIAEV
X:114541247-114541247 A>G	0.0	3903	MELANOMA	0.01	-	-	-	LUZP4	uc004eqb.3,p.I192V|ENST00000371920,p.I274V|NM_016383,p.I274V|uc004eqa.3,p.I274V|ENST00000451986,p.I192V	protein_coding	uc004eqb.3	nonsynonymous SNV	exon3	c.A574G	p.I192V	TQRDLIATQRDLIVTQRDLVATERD	TQRDLIATQRDLVVTQRDLVATERD	1.0	2.0	unscreened	-	3903_X:114541247-114541247 A>G_TQRDLIATQRDLVVTQRDLVATERD
15:85400580-85400580 C>T	0.0	3903	MELANOMA	-	-	-	-	ALPK3	ENST00000258888,p.P1073S|uc002ble.3,p.P1073S|NM_020778,p.P1073S	retained_intron, protein_coding	uc002ble.3	nonsynonymous SNV	exon6	c.C3217T	p.P1073S	GLSQEVPTMPSLPGTGLTASPKAGP	GLSQEVPTMPSLSGTGLTASPKAGP	3.0	2.0	-	-	3903_15:85400580-85400580 C>T_GLSQEVPTMPSLSGTGLTASPKAGP
9:70177736-70177736 G>A	0.0	3903	MELANOMA	-	-	-	-	FOXD4L5	NM_001126334,p.P83L|ENST00000377420,p.P83L|uc010moc.3,p.P83L	protein_coding	uc010moc.3	nonsynonymous SNV	exon1	c.C248T	p.P83L	REHIEGGGGPSDPSEFGTKFRAPPR	REHIEGGGGPSDLSEFGTKFRAPPR	1.0	7.0	unscreened	-	3903_9:70177736-70177736 G>A_REHIEGGGGPSDLSEFGTKFRAPPR
11:100226851-100226851 G>A	0.0	3903	MELANOMA	-	-	-	-	CNTN5	ENST00000524871,p.G1068E|NM_175566,p.G994E|uc021qpc.1,p.G994E|ENST00000528682,p.G1068E|uc001pga.3,p.G1068E|ENST00000279463,p.G1068E|NM_001243270,p.G1068E|uc010ruk.2,p.G339E|NM_014361,p.G1068E|ENST00000418526,p.G994E|uc021qpb.1,p.G1068E	retained_intron, protein_coding, processed_transcript	uc021qpc.1	nonsynonymous SNV	exon22	c.G2981A	p.G994E	ASSQIRVPSYSGGKITSAQSTLHSL	ASSQIRVPSYSGEKITSAQSTLHSL	1.0	8.0	-	-	3903_11:100226851-100226851 G>A_ASSQIRVPSYSGEKITSAQSTLHSL
12:85518095-85518095 G>A	0.0	3903	MELANOMA	-	-	-	-	LRRIQ1	ENST00000393217,p.D1269N|uc021rbo.1,p.D1147N|uc001tac.3,p.D1269N|NM_001079910,p.D1269N	retained_intron, protein_coding, nonsense_mediated_decay	uc021rbo.1	nonsynonymous SNV	exon13	c.G3439A	p.D1147N	EPDSPDIPEKWMDSVSSHSPLSKSA	EPDSPDIPEKWMNSVSSHSPLSKSA	3.0	2.0	-	-	3903_12:85518095-85518095 G>A_EPDSPDIPEKWMNSVSSHSPLSKSA
8:99015945-99015945 G>A	1.0	3903	MELANOMA	-	-	-	-	MATN2	uc003yid.3,p.E421K|ENST00000521689,p.E421K|ENST00000522025,p.E137K|uc003yie.1,p.E421K|NM_030583,p.E421K|uc010mbh.1,p.E380K|ENST00000524308,p.E380K|ENST00000522270,p.E125K|uc003yic.3,p.E421K|uc010mbi.1,p.E254K|ENST00000254898,p.E421K|ENST00000520016,p.E421K|NM_002380,p.E421K|uc003yib.1,p.E421K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010mbi.1	nonsynonymous SNV	exon5	c.G760A	p.E254K	NKPGCEHECVNMEESYYCRCHRGYT	NKPGCEHECVNMKESYYCRCHRGYT	5.0	5.0	-	-	3903_8:99015945-99015945 G>A_NKPGCEHECVNMKESYYCRCHRGYT
6:33179624-33179624 G>A	1.0	3903	MELANOMA	-	-	-	-	RING1	uc003odl.3,p.G293S|uc003odk.3,p.G322S|ENST00000374656,p.G322S|NM_002931,p.G322S	protein_coding, processed_transcript	uc003odl.3	nonsynonymous SNV	exon4	c.G877A	p.G293S	QQEAGEPGGPGGGASDTGGPDGCGG	QQEAGEPGGPGGSASDTGGPDGCGG	9.0	2.0	-	-	3903_6:33179624-33179624 G>A_QQEAGEPGGPGGSASDTGGPDGCGG
2:162696425-162696425 G>A	0.0	3903	MELANOMA	-	-	ID=COSM3748711,COSM385342,COSM3748712;OCCURENCE=1(lung),1(stomach)	-	SLC4A10	NM_001178016,p.R146Q|ENST00000272716,p.R135Q|ENST00000375514,p.R146Q|uc010fpa.1,p.R147Q|NM_001178015,p.R135Q|ENST00000415876,p.R135Q|ENST00000535165,p.R135Q|uc010zcs.2,p.R146Q|uc002uby.4,p.R135Q|ENST00000421911,p.R135Q|ENST00000446997,p.R135Q|ENST00000446228,p.R135Q|uc002ubx.4,p.R135Q|NM_022058,p.R135Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zcs.2	nonsynonymous SNV	exon5	c.G437A	p.R146Q	EICWREGEDAEWRETARWLKFEEDV	EICWREGEDAEWQETARWLKFEEDV	1.0	8.0	-	-	3903_2:162696425-162696425 G>A_EICWREGEDAEWQETARWLKFEEDV
16:67412546-67412546 G>A	1.0	3903	MELANOMA	-	-	-	-	LRRC36	NM_001161575,p.E500K|ENST00000329956,p.E621K|ENST00000563189,p.E500K|NM_018296,p.E621K|uc002esx.3,p.E500K|ENST00000541146,p.E93K|uc002esv.3,p.E621K|uc010vjk.2,p.E396K|ENST00000435835,p.E396K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vjk.2	nonsynonymous SNV	exon7	c.G1186A	p.E396K	LVRVLEENLILSEKIQQLEEGAAIS	LVRVLEENLILSKKIQQLEEGAAIS	2.0	7.0	-	-	3903_16:67412546-67412546 G>A_LVRVLEENLILSKKIQQLEEGAAIS
5:19839093-19839093 C>T	0.0	3903	MELANOMA	-	-	-	-	CDH18	uc003jgc.3,p.M1I|uc011cnm.2,p.M1I|NM_001167667,p.M1I|ENST00000506372,p.M1I|NM_001291956,p.M1I|ENST00000511273,p.M1I|ENST00000382275,p.M1I|ENST00000502796,p.M1I|NM_004934,p.M1I|ENST00000507958,p.M1I|ENST00000274170,p.M1I|uc003jgd.3,p.M1I|uc021xwu.1,p.M1I|NM_001291957,p.M1I	protein_coding, processed_transcript	uc021xwu.1	nonsynonymous SNV	exon3	c.G3A	p.M1I	MKITSTSCICPVL	IKITSTSCICPVL	1.0	2.0	unscreened	-	3903_5:19839093-19839093 C>T_IKITSTSCICPVL
8:68942841-68942841 T>G	0.0	3903	MELANOMA	-	-	-	1	PREX2	uc003xxu.1,p.M218R|NM_025170,p.M218R|NM_024870,p.M218R|uc011lez.1,p.M153R|ENST00000288368,p.M218R|uc003xxv.1,p.M218R	protein_coding, processed_transcript	uc011lez.1	nonsynonymous SNV	exon4	c.T458G	p.M153R	AVCSNINEAKRQMEKLEVLEEWQSH	AVCSNINEAKRQREKLEVLEEWQSH	3.0	6.0	unscreened	-	3903_8:68942841-68942841 T>G_AVCSNINEAKRQREKLEVLEEWQSH
22:46654143-46654143 C>T	0.0	3903	MELANOMA	-	-	-	-	PKDREJ	ENST00000253255,p.E1693K|NM_006071,p.E1693K|uc003bhh.3,p.E1693K	protein_coding	uc003bhh.3	nonsynonymous SNV	exon1	c.G5077A	p.E1693K	RGTRMYQPLTEDEIRIFKRKKRIKR	RGTRMYQPLTEDKIRIFKRKKRIKR	1.0	7.0	unscreened	-	3903_22:46654143-46654143 C>T_RGTRMYQPLTEDKIRIFKRKKRIKR
19:19748340-19748340 C>A	1.0	3903	MELANOMA	-	-	-	-	GMIP	NM_016573,p.A320S|uc002nnd.3,p.A320S|ENST00000445806,p.A320S|ENST00000587238,p.A320S|uc010xrc.2,p.A320S|ENST00000203556,p.A320S|NM_001288999,p.A320S|uc010xrb.2,p.A320S|NM_001288998,p.A320S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xrc.2	nonsynonymous SNV	exon11	c.G958T	p.A320S	RRVTLSLFGLRGAQAERGPRAFAAL	RRVTLSLFGLRGSQAERGPRAFAAL	7.0	5.0	unscreened	-	3903_19:19748340-19748340 C>A_RRVTLSLFGLRGSQAERGPRAFAAL
12:133698183-133698183 G>A	1.0	3903	MELANOMA	-	-	-	-	ZNF891	uc031qkn.1,p.P108S|ENST00000537226,p.P108S|ENST00000397313,p.P108S|NM_001277291,p.P108S|uc031qkm.1,p.P108S	protein_coding	uc031qkn.1	nonsynonymous SNV	exon1	c.C322T	p.P108S	DQEEIRNMKKRIPQAICPDQKIQPK	DQEEIRNMKKRISQAICPDQKIQPK	4.0	3.0	-	-	3903_12:133698183-133698183 G>A_DQEEIRNMKKRISQAICPDQKIQPK
12:129190232-129190232 G>A	0.0	3903	MELANOMA	-	-	-	-	TMEM132C	uc021rgn.1,p.G907R|ENST00000537538,p.G292R|ENST00000315208,p.G523R|ENST00000435159,p.G907R|NM_001136103,p.G907R	protein_coding	uc021rgn.1	nonsynonymous SNV	exon9	c.G2719A	p.G907R	FPAHVDLPKAGSGLEENDLVQTPRG	FPAHVDLPKAGSRLEENDLVQTPRG	1.0	4.0	-	-	3903_12:129190232-129190232 G>A_FPAHVDLPKAGSRLEENDLVQTPRG
5:54405965-54405965 G>-	0.0	3903	MELANOMA	-	-	-	-	GZMA	ENST00000274306,p.K248fs|NM_006144,p.K248fs|uc003jpm.3,p.K248fs	protein_coding	uc003jpm.3	frameshift deletion	exon5	c.744delG	p.K248fs	DPRGPGVYILLSKKHLNWIIMTIKG	DPRGPGVYILLSKNTSTG	10.0	8.0	-	-	3903_5:54405965-54405965 G>-_DPRGPGVYILLSKNTSTG
16:58325019-58325019 G>A	0.0	3903	MELANOMA	-	-	-	-	PRSS54	uc002enf.3,p.S36F|NM_001080492,p.S36F|ENST00000567164,p.S36F|ENST00000219301,p.S36F|ENST00000569727,p.S36F|uc002eng.3,p.S36F	protein_coding, processed_transcript	uc002eng.3	nonsynonymous SNV	exon4	c.C107T	p.S36F	LYSSTSCGVQKASVFYGPDPKEGLV	LYSSTSCGVQKAFVFYGPDPKEGLV	1.0	7.0	-	-	3903_16:58325019-58325019 G>A_LYSSTSCGVQKAFVFYGPDPKEGLV
20:44669244-44669244 C>T	0.0	3903	MELANOMA	-	-	-	-	SLC12A5	uc002xrb.2,p.P282L|uc010zxl.1,p.P305L|ENST00000243964,p.P282L|NM_001134771,p.P305L|NM_020708,p.P282L|ENST00000454036,p.P305L	protein_coding	uc010zxl.1	nonsynonymous SNV	exon7	c.C914T	p.P305L	IYAGVIKSAFDPPNFPICLLGNRTL	IYAGVIKSAFDPLNFPICLLGNRTL	1.0	5.0	-	-	3903_20:44669244-44669244 C>T_IYAGVIKSAFDPLNFPICLLGNRTL
5:41158793-41158793 C>T	0.0	3903	MELANOMA	-	-	-	-	C6	uc003jml.2,p.E651K|ENST00000263413,p.E651K|ENST00000337836,p.E651K|uc003jmk.3,p.E651K|NM_000065,p.E651K|NM_001115131,p.E651K	retained_intron, protein_coding, processed_transcript	uc003jml.2	nonsynonymous SNV	exon13	c.G1951A	p.E651K	EADSGCPQPVPPENGFIRNEKQLYL	EADSGCPQPVPPKNGFIRNEKQLYL	3.0	2.0	-	-	3903_5:41158793-41158793 C>T_EADSGCPQPVPPKNGFIRNEKQLYL
14:103592864-103592864 G>A	1.0	3903	MELANOMA	-	-	-	-	TNFAIP2	ENST00000333007,p.E24K|ENST00000560869,p.E24K|ENST00000559406,p.E24K|ENST00000560562,p.E24K|NM_006291,p.E24K|uc001ymm.1,p.E24K|ENST00000558056,p.E24K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ymm.1	nonsynonymous SNV	exon1	c.G70A	p.E24K	PLEAGAAPYREEEEAAKKKKEKKKK	PLEAGAAPYREEKEAAKKKKEKKKK	10.0	2.0	-	-	3903_14:103592864-103592864 G>A_PLEAGAAPYREEKEAAKKKKEKKKK
17:39597112-39597112 C>T	0.0	3903	MELANOMA	-	-	-	-	KRT38	ENST00000246646,p.R21K|NM_006771,p.R21K|uc002hwq.1,p.R21K	protein_coding	uc002hwq.1	nonsynonymous SNV	exon1	c.G62A	p.R21K	SCPLGCTMAPGARNVSVSPIDIGCQ	SCPLGCTMAPGAKNVSVSPIDIGCQ	1.0	5.0	-	-	3903_17:39597112-39597112 C>T_SCPLGCTMAPGAKNVSVSPIDIGCQ
12:64746803-64746803 C>T	0.0	3903	MELANOMA	-	-	-	-	C12orf56	NM_001170633,p.D96N|ENST00000543259,p.D83N|uc001ssa.4,p.D96N|ENST00000543942,p.D96N|ENST00000333722,p.D96N|uc021qzu.1,p.D96N|NM_001099676,p.D96N	retained_intron, protein_coding, processed_transcript	uc021qzu.1	nonsynonymous SNV	exon2	c.G286A	p.D96N	LIDDYPEFLSSPDREISQHIRIIYS	LIDDYPEFLSSPNREISQHIRIIYS	1.0	4.0	-	-	3903_12:64746803-64746803 C>T_LIDDYPEFLSSPNREISQHIRIIYS
5:1032297-1032297 C>T	0.0	3903	MELANOMA	-	-	-	-	NKD2	uc010itf.2,p.P58S|ENST00000274150,p.P58S|NM_033120,p.P58S|ENST00000296849,p.P58S|uc003jbt.2,p.P58S|ENST00000537972,p.P58S|NM_001271082,p.P58S	retained_intron, protein_coding	uc010itf.2	nonsynonymous SNV	exon4	c.C172T	p.P58S	KQELPNGDPKEGPFREDQCPLQVAL	KQELPNGDPKEGSFREDQCPLQVAL	4.0	2.0	unscreened	-	3903_5:1032297-1032297 C>T_KQELPNGDPKEGSFREDQCPLQVAL
14:105452964-105452964 G>T	1.0	3903	MELANOMA	-	-	-	-	C14orf79	ENST00000389964,p.A66S|uc001ypy.1,p.A66S|NM_174891,p.A66S|ENST00000547315,p.A66S|ENST00000548641,p.A66S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ypy.1	nonsynonymous SNV	exon1	c.G196T	p.A66S	ISMPREGGSTCTARCPDPGEHSSTW	ISMPREGGSTCTSRCPDPGEHSSTW	8.0	8.0	-	-	3903_14:105452964-105452964 G>T_ISMPREGGSTCTSRCPDPGEHSSTW
19:33119731-33119731 C>T	1.0	3903	MELANOMA	-	-	-	-	ANKRD27	uc002ntn.1,p.E412K|ENST00000591100,p.E106K|ENST00000306065,p.E412K|NM_032139,p.E412K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ntn.1	nonsynonymous SNV	exon14	c.G1234A	p.E412K	CLFKHIASGNQKEVERLLSQEDHDK	CLFKHIASGNQKKVERLLSQEDHDK	6.0	3.0	-	-	3903_19:33119731-33119731 C>T_CLFKHIASGNQKKVERLLSQEDHDK
5:140307781-140307781 T>C	0.0	3903	MELANOMA	-	-	-	-	PCDHAC1	ENST00000409700,p.V435A|NM_031882,p.V435A|ENST00000253807,p.V435A|uc003lih.2,p.V435A|NM_018898,p.V435A|uc003lig.1,p.V435A	protein_coding	uc003lih.2	nonsynonymous SNV	exon1	c.T1304C	p.V435A	PPLSTRRTITVSVADVNDNTPNFPQ	PPLSTRRTITVSAADVNDNTPNFPQ	1.0	5.0	-	-	3903_5:140307781-140307781 T>C_PPLSTRRTITVSAADVNDNTPNFPQ
21:36080243-36080243 A>G	0.0	3903	MELANOMA	-	-	-	-	CLIC6	uc002yuf.1,p.K496E|ENST00000349499,p.K496E|ENST00000360731,p.K514E|uc010gmt.1,p.K514E|NM_053277,p.K496E	protein_coding	uc010gmt.1	nonsynonymous SNV	exon4	c.A1540G	p.K514E	VIFNVTTVDLKRKPADLQNLAPGTN	VIFNVTTVDLKREPADLQNLAPGTN	1.0	8.0	-	-	3903_21:36080243-36080243 A>G_VIFNVTTVDLKREPADLQNLAPGTN
3:9982816-9982816 G>A	1.0	3903	MELANOMA	-	-	-	-	CRELD1	uc003buh.3,p.R220Q|ENST00000383811,p.R220Q|NM_001031717,p.R220Q|ENST00000326434,p.R220Q|NM_001077415,p.R220Q|ENST00000452070,p.R220Q|ENST00000397170,p.R220Q|uc003bug.3,p.R220Q|uc003buf.3,p.R220Q|NM_015513,p.R220Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003buh.3	nonsynonymous SNV	exon6	c.G659A	p.R220Q	HLVCSACFGPCARCSGPEESNCLQC	HLVCSACFGPCAQCSGPEESNCLQC	8.0	3.0	-	-	3903_3:9982816-9982816 G>A_HLVCSACFGPCAQCSGPEESNCLQC
12:33560007-33560007 C>T	0.0	3903	MELANOMA	-	-	-	-	SYT10	ENST00000228567,p.G265E|ENST00000535526,p.G84E|uc001rll.1,p.G265E|uc009zju.1,p.G75E|NM_198992,p.G265E	protein_coding, processed_transcript, nonsense_mediated_decay	uc009zju.1	nonsynonymous SNV	exon5	c.G224A	p.G75E	IKALDLPAKDFTGTSDPYVKMYLLP	IKALDLPAKDFTETSDPYVKMYLLP	1.0	3.0	-	-	3903_12:33560007-33560007 C>T_IKALDLPAKDFTETSDPYVKMYLLP
4:169837149-169837149 G>A	1.0	3903	MELANOMA	-	-	-	-	PALLD	uc003irw.3,p.E437K|NM_016081,p.E924K|NM_001166109,p.E542K|ENST00000505667,p.E941K|ENST00000335742,p.E766K|ENST00000512127,p.E542K|uc003iru.3,p.E924K|uc011cjx.2,p.E941K|uc003irv.3,p.E542K|uc003irx.3,p.E150K|NM_001166110,p.E437K|NM_001166108,p.E941K|ENST00000261509,p.E924K|ENST00000507735,p.E437K	retained_intron, protein_coding	uc011cjx.2	nonsynonymous SNV	exon17	c.G2821A	p.E941K	HFLQAPGDLTVQEGKLCRMDCKVSG	HFLQAPGDLTVQKGKLCRMDCKVSG	9.0	5.0	-	-	3903_4:169837149-169837149 G>A_HFLQAPGDLTVQKGKLCRMDCKVSG
16:48594990-48594990 G>A	1.0	3903	MELANOMA	-	-	-	-	N4BP1	ENST00000262384,p.P522S|uc002efp.3,p.P522S|NM_153029,p.P522S	retained_intron, protein_coding, processed_transcript	uc002efp.3	nonsynonymous SNV	exon2	c.C1564T	p.P522S	GASSHQPRVPLFPENGLHQQPEPLL	GASSHQPRVPLFSENGLHQQPEPLL	8.0	7.0	-	-	3903_16:48594990-48594990 G>A_GASSHQPRVPLFSENGLHQQPEPLL
12:121013633-121013633 G>A	1.0	3903	MELANOMA	-	-	-	-	RNF10	ENST00000538254,p.D82N|ENST00000325954,p.D747N|uc001typ.4,p.D747N|uc001tyq.4,p.D658N|NM_014868,p.D747N|ENST00000413266,p.D752N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001tyq.4	nonsynonymous SNV	exon15	c.G1972A	p.D658N	ENSLVPPAPVDSDGESDNSDRVPVP	ENSLVPPAPVDSNGESDNSDRVPVP	10.0	8.0	-	-	3903_12:121013633-121013633 G>A_ENSLVPPAPVDSNGESDNSDRVPVP
21:34399460-34399460 A>G	1.0	3903	MELANOMA	-	-	-	1	OLIG2	uc002yqx.2,p.D97G|NM_005806,p.D97G|ENST00000382357,p.D97G|ENST00000333337,p.D97G|uc021wil.1,p.D97G	protein_coding	uc021wil.1	nonsynonymous SNV	exon1	c.A290G	p.D97G	STSSAAASSTKKDKKQMTEPELQQL	STSSAAASSTKKGKKQMTEPELQQL	8.0	3.0	-	-	3903_21:34399460-34399460 A>G_STSSAAASSTKKGKKQMTEPELQQL
20:30065699-30065699 G>C	0.0	3903	MELANOMA	-	-	-	-	REM1	ENST00000201979,p.E137Q|uc002wwa.3,p.E137Q|NM_014012,p.E137Q	protein_coding	uc002wwa.3	nonsynonymous SNV	exon3	c.G409C	p.E137Q	GEDTTLVVVDTWEAEKLDKSWSQES	GEDTTLVVVDTWQAEKLDKSWSQES	3.0	4.0	unscreened	-	3903_20:30065699-30065699 G>C_GEDTTLVVVDTWQAEKLDKSWSQES
4:102776338-102776338 C>T	0.0	3903	MELANOMA	-	-	-	-	BANK1	ENST00000508653,p.P73S|uc010ill.3,p.P73S|NM_017935,p.P206S|NM_001127507,p.P73S|uc003hvy.4,p.P206S|uc003hvz.4,p.P176S|uc003hvx.4,p.P191S|NM_001083907,p.P176S|ENST00000444316,p.P176S|ENST00000504592,p.P191S|ENST00000428908,p.P73S|ENST00000322953,p.P206S	retained_intron, protein_coding, processed_transcript	uc010ill.3	nonsynonymous SNV	exon2	c.C217T	p.P73S	TIPLAVVLPTEIPCENPGEIFIILR	TIPLAVVLPTEISCENPGEIFIILR	3.0	5.0	-	-	3903_4:102776338-102776338 C>T_TIPLAVVLPTEISCENPGEIFIILR
5:140751846-140751846 G>A	0.0	3903	MELANOMA	-	-	-	-	PCDHGB3	ENST00000576222,p.A629T|NM_018924,p.A629T|NM_032097,p.A629T|uc003ljw.2,p.A629T|uc011dat.2,p.A629T	protein_coding	uc011dat.2	nonsynonymous SNV	exon1	c.G1885A	p.A629T	FSLGLRTGEVRTARTLGDREAARQR	FSLGLRTGEVRTTRTLGDREAARQR	3.0	6.0	unscreened	-	3903_5:140751846-140751846 G>A_FSLGLRTGEVRTTRTLGDREAARQR
6:170176145-170176145 C>T	1.0	3903	MELANOMA	-	-	-	-	ERMARD	ENST00000366772,p.R502C|uc010kky.1,p.R376C|NM_001278531,p.R502C	retained_intron, protein_coding, nonsense_mediated_decay	uc010kky.1	nonsynonymous SNV	exon14	c.C1126T	p.R376C	MPENRCVLKDLDRLPTETPTSDTPL	MPENRCVLKDLDCLPTETPTSDTPL	7.0	6.0	unscreened	-	3903_6:170176145-170176145 C>T_MPENRCVLKDLDCLPTETPTSDTPL
5:118970410-118970410 C>T	0.0	3903	MELANOMA	-	-	-	-	FAM170A	ENST00000504819,p.H276Y|ENST00000515256,p.H323Y|uc003ksm.2,p.H323Y	protein_coding, nonsense_mediated_decay	uc003ksm.2	nonsynonymous SNV	exon3	c.C967T	p.H323Y	RRSWSQCPGCVFHSPKDRNS	RRSWSQCPGCVFYSPKDRNS	1.0	6.0	-	-	3903_5:118970410-118970410 C>T_RRSWSQCPGCVFYSPKDRNS
X:114541249-114541249 A>G	0.0	3903	MELANOMA	0.01	-	-	-	LUZP4	uc004eqa.3,p.I274M|NM_016383,p.I274M|uc004eqb.3,p.I192M|ENST00000371920,p.I274M|ENST00000451986,p.I192M	protein_coding	uc004eqb.3	nonsynonymous SNV	exon3	c.A576G	p.I192M	TQRDLIATQRDLIVTQRDLVATERD	TQRDLIATQRDLMVTQRDLVATERD	1.0	3.0	unscreened	-	3903_X:114541249-114541249 A>G_TQRDLIATQRDLMVTQRDLVATERD
6:51524579-51524579 G>A	0.0	3903	MELANOMA	-	-	-	-	PKHD1	ENST00000371117,p.P3449S|NM_138694,p.P3449S|uc003pah.1,p.P3449S	protein_coding	uc003pah.1	nonsynonymous SNV	exon61	c.C10345T	p.P3449S	FVDVFSSVNANIPCSTSGSVSTFYS	FVDVFSSVNANISCSTSGSVSTFYS	1.0	6.0	-	-	3903_6:51524579-51524579 G>A_FVDVFSSVNANISCSTSGSVSTFYS
1:238050123-238050123 T>C	1.0	3903	MELANOMA	-	-	-	-	ZP4	NM_021186,p.R263G|ENST00000366570,p.R263G|uc001hym.3,p.R263G	protein_coding	uc001hym.3	nonsynonymous SNV	exon6	c.A787G	p.R263G	DRAVYENELVATRDVKNGSRGSVTR	DRAVYENELVATGDVKNGSRGSVTR	5.0	5.0	-	-	3903_1:238050123-238050123 T>C_DRAVYENELVATGDVKNGSRGSVTR
20:1961007-1961007 C>T	0.0	3903	MELANOMA	-	-	-	-	PDYN	NM_001190900,p.D243N|ENST00000539905,p.D243N|NM_024411,p.D243N|NM_001190899,p.D243N|uc021vzu.1,p.D243N|ENST00000540134,p.D243N|ENST00000217305,p.D243N|uc021vzs.1,p.D243N|uc002wfv.3,p.D243N|uc021vzt.1,p.D243N|NM_001190892,p.D243N|uc010gaj.3,p.D243N|NM_001190898,p.D243N	protein_coding	uc021vzu.1	nonsynonymous SNV	exon3	c.G727A	p.D243N	RRQFKVVTRSQEDPNAYSGELFDA	RRQFKVVTRSQENPNAYSGELFDA	1.0	7.0	-	-	3903_20:1961007-1961007 C>T_RRQFKVVTRSQENPNAYSGELFDA
14:23856803-23856803 C>T	0.0	3903	MELANOMA	-	-	-	-	MYH6	uc001wjv.3,p.E1529K|NM_002471,p.E1529K|ENST00000405093,p.E1529K|ENST00000356287,p.E1529K	retained_intron, protein_coding	uc001wjv.3	nonsynonymous SNV	exon32	c.G4585A	p.E1529K	QLGEGGKNVHELEKVRKQLEVEKLE	QLGEGGKNVHELKKVRKQLEVEKLE	1.0	8.0	-	-	3903_14:23856803-23856803 C>T_QLGEGGKNVHELKKVRKQLEVEKLE
5:140788781-140788781 C>T	0.0	3903	MELANOMA	-	-	-	-	PCDHGB6	NM_018926,p.L338F|uc003lki.1,p.L338F|NM_032100,p.L338F|uc003lkj.2,p.L338F|ENST00000520790,p.L338F	protein_coding	uc003lkj.2	nonsynonymous SNV	exon1	c.C1012T	p.L338F	GLSTQCKVIIEILDENDNSPEIIIT	GLSTQCKVIIEIFDENDNSPEIIIT	4.0	5.0	-	-	3903_5:140788781-140788781 C>T_GLSTQCKVIIEIFDENDNSPEIIIT
10:120810125-120810125 C>T	1.0	3903	MELANOMA	-	-	-	-	EIF3A	NM_003750,p.R794Q|ENST00000541549,p.R760Q|ENST00000369144,p.R794Q|uc010qsu.2,p.R760Q|uc001ldu.3,p.R794Q	protein_coding, processed_transcript	uc010qsu.2	nonsynonymous SNV	exon16	c.G2279A	p.R760Q	RLAEERHNRLEERKRQRKEERRITY	RLAEERHNRLEEQKRQRKEERRITY	10.0	4.0	-	-	3903_10:120810125-120810125 C>T_RLAEERHNRLEEQKRQRKEERRITY
3:195511142-195511142 T>C	0.0	3903	MELANOMA	-	rs430037	-	2	MUC4	ENST00000463781,p.N2437D|ENST00000479406,p.N2437D|ENST00000477086,p.N2437D|ENST00000462323,p.N2437D|ENST00000470451,p.N2437D|ENST00000480843,p.N2437D|uc021xjp.1,p.N2437D|NM_018406,p.N2437D|ENST00000478156,p.N2437D|ENST00000475231,p.N2437D|ENST00000466475,p.N2437D|ENST00000477756,p.N2437D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.A7309G	p.N2437D	ASTGDTTRLPVTNVSSASTGHATPL	ASTGDTTRLPVTDVSSASTGHATPL	1.0	3.0	unscreened	-	3903_3:195511142-195511142 T>C_ASTGDTTRLPVTDVSSASTGHATPL
4:151504353-151504353 G>A	0.0	3903	MELANOMA	-	-	-	-	MAB21L2	NM_006439,p.E58K|uc003ilw.3,p.E58K|ENST00000317605,p.E58K	protein_coding	uc003ilw.3	nonsynonymous SNV	exon1	c.G172A	p.E58K	EVQEPRFISSLSEIDARYEGLEVIS	EVQEPRFISSLSKIDARYEGLEVIS	2.0	6.0	unscreened	-	3903_4:151504353-151504353 G>A_EVQEPRFISSLSKIDARYEGLEVIS
17:10302156-10302156 G>C	0.0	3903	MELANOMA	-	-	-	-	MYH8	uc002gmm.2,p.L1304V|NM_002472,p.L1304V|ENST00000403437,p.L1304V	protein_coding	uc002gmm.2	nonsynonymous SNV	exon29	c.C3910G	p.L1304V	RQLDEKDALVSQLSRSKQASTQQIE	RQLDEKDALVSQVSRSKQASTQQIE	1.0	4.0	-	-	3903_17:10302156-10302156 G>C_RQLDEKDALVSQVSRSKQASTQQIE
11:60557811-60557811 G>A	0.0	3903	MELANOMA	-	-	-	-	MS4A10	ENST00000308287,p.M1I|uc001npz.1,p.M1I|NM_206893,p.M1I	protein_coding	uc001npz.1	nonsynonymous SNV	exon2	c.G3A	p.M1I	MKAEATVIPSRCA	IKAEATVIPSRCA	1.0	8.0	unscreened	-	3903_11:60557811-60557811 G>A_IKAEATVIPSRCA
7:142627446-142627446 C>T	0.0	3903	MELANOMA	-	-	-	-	TRPV5	ENST00000439304,p.R69K|ENST00000265310,p.R75K|uc003wby.1,p.R75K|NM_019841,p.R75K|ENST00000442623,p.R75K|uc003wbz.3,p.R75K	protein_coding	uc003wbz.3	nonsynonymous SNV	exon2	c.G224A	p.R75K	QLLLDCTCDVRQRGALGETALHIAA	QLLLDCTCDVRQKGALGETALHIAA	1.0	5.0	-	-	3903_7:142627446-142627446 C>T_QLLLDCTCDVRQKGALGETALHIAA
19:33792530-33792530 C>T	0.0	3903	MELANOMA	-	-	-	1	CEBPA	uc002nun.3,p.R264H|NM_001287435,p.R250H|ENST00000498907,p.R264H|NM_004364,p.R264H|NM_001287424,p.R299H|NM_001285829,p.R145H	protein_coding	uc002nun.3	nonsynonymous SNV	exon1	c.G791A	p.R264H	ALKGLGAAHPDLRASGGSGAGKAKK	ALKGLGAAHPDLHASGGSGAGKAKK	5.0	4.0	-	-	3903_19:33792530-33792530 C>T_ALKGLGAAHPDLHASGGSGAGKAKK
2:179578806-179578806 C>T	0.0	3903	MELANOMA	-	-	-	-	TTN	uc002umz.1,p.S4277N|ENST00000589042,p.S8860N|ENST00000342992,p.S7616N|NM_133378,p.S7616N|uc031rqd.1,p.S8543N|NM_001267550,p.S8860N|NM_001256850,p.S8543N|uc021vsy.2,p.S7616N|ENST00000591111,p.S8543N|uc031rqc.1,p.S8860N	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon90	c.G25628A	p.S8543N	TLECTVAGTPELSTKWFKDGKELTS	TLECTVAGTPELNTKWFKDGKELTS	2.0	4.0	-	-	3903_2:179578806-179578806 C>T_TLECTVAGTPELNTKWFKDGKELTS
16:67412546-67412546 G>A	1.0	3903	MELANOMA	-	-	-	-	LRRC36	ENST00000290940,p.R304K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000290940	nonsynonymous SNV	exon8	c.G911A	p.R304K	TGQSAGGKPHFVRKNSTVGGRCCHL	TGQSAGGKPHFVKKNSTVGGRCCHL	2.0	7.0	unscreened	-	3903_16:67412546-67412546 G>A_TGQSAGGKPHFVKKNSTVGGRCCHL
14:68191912-68191912 G>A	0.0	3903	MELANOMA	-	-	-	-	RDH12	ENST00000267502,p.R95Q|NM_152443,p.R95Q|ENST00000551171,p.R95Q|ENST00000539142,p.R95Q|uc001xjz.4,p.R95Q	retained_intron, protein_coding, processed_transcript	uc001xjz.4	nonsynonymous SNV	exon5	c.G284A	p.R95Q	IRVDTKNSQVLVRKLDLSDTKSIRA	IRVDTKNSQVLVQKLDLSDTKSIRA	3.0	4.0	-	-	3903_14:68191912-68191912 G>A_IRVDTKNSQVLVQKLDLSDTKSIRA
17:33521040-33521040 C>T	0.0	3903	MELANOMA	-	-	-	-	SLC35G3	uc002hjd.2,p.G96E|ENST00000297307,p.G96E|NM_152462,p.G96E	protein_coding	uc002hjd.2	nonsynonymous SNV	exon1	c.G287A	p.G96E	ALLLKLRGDPLLGTPDIRSRAFFCA	ALLLKLRGDPLLETPDIRSRAFFCA	1.0	4.0	unscreened	-	3903_17:33521040-33521040 C>T_ALLLKLRGDPLLETPDIRSRAFFCA
6:123687324-123687324 G>C	0.0	3903	MELANOMA	-	-	-	-	TRDN	uc003pzj.2,p.T426S|uc003pzk.2,p.T427S|NM_001251987,p.T427S|ENST00000398178,p.T426S|ENST00000334268,p.T426S|NM_006073,p.T426S	protein_coding	uc003pzk.2	nonsynonymous SNV	exon20	c.C1280G	p.T427S	HSVPSDKQVKAKTERAKEEIGAVSI	HSVPSDKQVKAKSERAKEEIGAVSI	1.0	7.0	-	-	3903_6:123687324-123687324 G>C_HSVPSDKQVKAKSERAKEEIGAVSI
4:69816944-69816944 C>T	0.0	3903	MELANOMA	-	-	-	-	UGT2A3	ENST00000503012,p.E45K|ENST00000251566,p.E179K|uc003hef.2,p.E179K|NM_024743,p.E179K	protein_coding, nonsense_mediated_decay	uc003hef.2	nonsynonymous SNV	exon1	c.G535A	p.E179K	VLTLRISVGGNMERSCGKLPAPLSY	VLTLRISVGGNMKRSCGKLPAPLSY	1.0	4.0	unscreened	-	3903_4:69816944-69816944 C>T_VLTLRISVGGNMKRSCGKLPAPLSY
3:126916039-126916039 G>A	0.0	3903	MELANOMA	-	-	-	-	C3orf56	NM_001007534,p.E171K|uc003eji.1,p.E171K|ENST00000398112,p.E171K	protein_coding	uc003eji.1	nonsynonymous SNV	exon2	c.G511A	p.E171K	WTPASSAPRAAVEGPSRGAPYLKTC	WTPASSAPRAAVKGPSRGAPYLKTC	1.0	4.0	-	-	3903_3:126916039-126916039 G>A_WTPASSAPRAAVKGPSRGAPYLKTC
17:47656157-47656157 G>A	0.0	3903	MELANOMA	-	-	ID=COSM2698369;OCCURENCE=1(large_intestine)	-	NXPH3	NM_007225,p.R85H|uc002ipa.3,p.R85H|ENST00000513748,p.R85H|ENST00000328741,p.R85H	retained_intron, protein_coding	uc002ipa.3	nonsynonymous SNV	exon2	c.G254A	p.R85H	GEAWGILGQPPNRPNHSPPPSAKVK	GEAWGILGQPPNHPNHSPPPSAKVK	3.0	5.0	-	-	3903_17:47656157-47656157 G>A_GEAWGILGQPPNHPNHSPPPSAKVK
15:34133059-34133059 G>A	1.0	3903	MELANOMA	-	-	-	-	RYR3	ENST00000389232,p.G4338R|uc001zhi.3,p.G4338R|NM_001036,p.G4338R|uc010bar.3,p.G4333R|ENST00000415757,p.G4333R|NM_001243996,p.G4333R	retained_intron, protein_coding, processed_transcript	uc010bar.3	nonsynonymous SNV	exon89	c.G12997A	p.G4333R	QAAEMKAANEAEGKVESEKADMEDG	QAAEMKAANEAERKVESEKADMEDG	3.0	6.0	-	-	3903_15:34133059-34133059 G>A_QAAEMKAANEAERKVESEKADMEDG
17:44064433-44064433 G>A	1.0	3903	MELANOMA	-	-	-	-	MAPT	ENST00000415613,p.G385E|NM_001123066,p.G385E|ENST00000262410,p.G385E|uc010dau.3,p.G385E|NM_016835,p.G385E|ENST00000344290,p.G385E|ENST00000571987,p.G385E|uc002ijr.4,p.G385E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dau.3	nonsynonymous SNV	exon7	c.G1154A	p.G385E	QLKARMVSKSKDGTGSDDKKAKTST	QLKARMVSKSKDETGSDDKKAKTST	6.0	4.0	-	-	3903_17:44064433-44064433 G>A_QLKARMVSKSKDETGSDDKKAKTST
12:129566496-129566496 C>-	0.0	3903	MELANOMA	-	-	-	-	TMEM132D	uc001uia.2,p.V115fs|ENST00000389441,p.V115fs|NM_133448,p.V577fs|uc009zyl.1,p.V577fs|ENST00000422113,p.V577fs	protein_coding	uc009zyl.1	frameshift deletion	exon7	c.1731delG	p.V577fs	GRGCTLQYQHAMVRVLTQFVAEAAG	GRGCTLQYQHAMVGS	1.0	5.0	-	-	3903_12:129566496-129566496 C>-_GRGCTLQYQHAMVGS
17:44064433-44064433 G>A	1.0	3903	MELANOMA	-	-	-	-	MAPT	uc002ijx.4,p.G105E|NM_016841,p.G76E|ENST00000535772,p.G134E|ENST00000431008,p.G134E|ENST00000420682,p.G105E|ENST00000347967,p.G40E|ENST00000351559,p.G134E|ENST00000334239,p.G76E|NM_005910,p.G134E|ENST00000340799,p.G105E|NM_001203252,p.G134E|uc002ijt.4,p.G76E|ENST00000446361,p.G76E|uc021tyv.1,p.G134E|ENST00000576518,p.G65E|uc002iju.4,p.G76E|NM_001123067,p.G105E|uc021tyw.1,p.G105E|ENST00000574436,p.G134E|NM_016834,p.G76E|uc002ijs.4,p.G134E|NM_001203251,p.G105E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tyw.1	nonsynonymous SNV	exon5	c.G314A	p.G105E	VTQARMVSKSKDGTGSDDKKAKGAD	VTQARMVSKSKDETGSDDKKAKGAD	6.0	4.0	unscreened	-	3903_17:44064433-44064433 G>A_VTQARMVSKSKDETGSDDKKAKGAD
1:62738999-62738999 C>T	0.0	3903	MELANOMA	-	-	-	-	KANK4	NM_181712,p.A593T|ENST00000371153,p.A593T|uc001dah.4,p.A593T	protein_coding	uc001dah.4	nonsynonymous SNV	exon3	c.G1777A	p.A593T	GYPELASAIKQPASKLSSIQSQLLS	GYPELASAIKQPTSKLSSIQSQLLS	1.0	7.0	unscreened	-	3903_1:62738999-62738999 C>T_GYPELASAIKQPTSKLSSIQSQLLS
11:5758263-5758263 G>A	0.0	3903	MELANOMA	-	-	-	-	OR56B1	uc001mbs.1,p.A173T|ENST00000317121,p.A173T|uc009yev.1,p.A173T|uc001mbt.2,p.A173T|NM_001005180,p.A173T	protein_coding	uc009yev.1	nonsynonymous SNV	exon4	c.G517A	p.A173T	NGLFVTPVPVLAAQRDYCSKNEIEH	NGLFVTPVPVLATQRDYCSKNEIEH	1.0	4.0	-	-	3903_11:5758263-5758263 G>A_NGLFVTPVPVLATQRDYCSKNEIEH
4:75673313-75673313 C>T	0.0	3903	MELANOMA	-	-	ID=COSM106586;OCCURENCE=1(skin)	-	BTC	NM_001729,p.E159K|uc003hig.2,p.E159K|ENST00000395743,p.E159K	protein_coding	uc003hig.2	nonsynonymous SNV	exon5	c.G475A	p.E159K	KRRKRKKKEEEMETLGKDITPINED	KRRKRKKKEEEMKTLGKDITPINED	1.0	7.0	-	-	3903_4:75673313-75673313 C>T_KRRKRKKKEEEMKTLGKDITPINED
7:100606746-100606746 G>A	0.0	3903	MELANOMA	-	-	-	-	MUC3A	ENST00000414964,p.D64N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000414964	nonsynonymous SNV	exon2	c.G190A	p.D64N	EFAVEQVDLDAEDFCRHAGLHLQGC	EFAVEQVDLDAENFCRHAGLHLQGC	3.0	5.0	unscreened	-	3903_7:100606746-100606746 G>A_EFAVEQVDLDAENFCRHAGLHLQGC
3:130174393-130174393 G>A	0.0	3903	MELANOMA	-	-	-	-	COL6A5	uc021xdz.1,p.E264K|NM_001278298,p.E2225K|NM_153264,p.E2225K|ENST00000312481,p.E2225K|ENST00000512482,p.E60K|ENST00000432398,p.E2225K|ENST00000265379,p.E2225K|uc010htk.2,p.E2225K|uc010htj.2,p.E2225K|ENST00000373157,p.E168K	protein_coding, nonsense_mediated_decay	uc021xdz.1	nonsynonymous SNV	exon3	c.G790A	p.E264K	LNSGRESPFVKTEDNGSDYLVYLPS	LNSGRESPFVKTKDNGSDYLVYLPS	1.0	5.0	-	-	3903_3:130174393-130174393 G>A_LNSGRESPFVKTKDNGSDYLVYLPS
1:109735476-109735476 C>T	0.0	3903	MELANOMA	-	-	-	-	KIAA1324	uc010ovg.3,p.P541S|uc009wey.3,p.P556S|uc009wex.2,p.P593S|ENST00000457623,p.P593S|uc031pnl.1,p.P305S|NM_001284353,p.P305S|uc001dwr.3,p.P293S|NM_001284352,p.P541S|NM_020775,p.P643S|ENST00000529753,p.P556S|ENST00000369939,p.P643S|NM_001267048,p.P556S|uc021orb.1,p.P643S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pnl.1	nonsynonymous SNV	exon7	c.C913T	p.P305S	QPYGVQACVPCGPGTKNNKIHSLCY	QPYGVQACVPCGSGTKNNKIHSLCY	4.0	7.0	unscreened	-	3903_1:109735476-109735476 C>T_QPYGVQACVPCGSGTKNNKIHSLCY
5:140222821-140222821 G>A	0.0	3903	MELANOMA	-	-	-	-	PCDHA8	uc003lhr.1,p.E639K|uc003lhs.2,p.E639K|ENST00000531613,p.E639K|NM_018911,p.E639K|NM_031856,p.E639K|ENST00000378123,p.E639K	protein_coding	uc003lhs.2	nonsynonymous SNV	exon1	c.G1915A	p.E639K	YTGEISTTRVLDEADSPRHRLLVLV	YTGEISTTRVLDKADSPRHRLLVLV	1.0	5.0	unscreened	-	3903_5:140222821-140222821 G>A_YTGEISTTRVLDKADSPRHRLLVLV
17:48192989-48192989 G>T	1.0	3903	MELANOMA	-	-	-	-	SAMD14	uc002iqg.4,p.T254N|uc002iqe.4,p.T37N|ENST00000330175,p.T254N|ENST00000285206,p.T266N|NM_001257359,p.T254N|uc002iqf.4,p.T254N|ENST00000503131,p.T254N|NM_174920,p.T254N	retained_intron, protein_coding, processed_transcript	uc002iqg.4	nonsynonymous SNV	exon7	c.C761A	p.T254N	TDSGKGSASSGSTTSPTCSPKHEGF	TDSGKGSASSGSNTSPTCSPKHEGF	5.0	5.0	-	-	3903_17:48192989-48192989 G>T_TDSGKGSASSGSNTSPTCSPKHEGF
5:50679518-50679518 G>A	0.0	3903	MELANOMA	-	-	ID=COSM1620356;OCCURENCE=2(liver)	-	ISL1	NM_002202,p.G5R|ENST00000230658,p.G5R|ENST00000511384,p.G5R|uc003jor.3,p.G5R	protein_coding	uc003jor.3	nonsynonymous SNV	exon1	c.G13A	p.G5R	MGDMGDPPKKKRLISLC	MGDMRDPPKKKRLISLC	2.0	6.0	-	-	3903_5:50679518-50679518 G>A_MGDMRDPPKKKRLISLC
16:28507353-28507353 G>A	0.0	3903	MELANOMA	-	-	-	-	APOBR	ENST00000564831,p.A331T|ENST00000431282,p.A331T|uc002dqb.2,p.A331T|ENST00000328423,p.A331T|NM_018690,p.A331T	protein_coding	uc002dqb.2	nonsynonymous SNV	exon2	c.G991A	p.A331T	AETASGGEEAGTASGGEEAGIASGG	AETASGGEEAGTTSGGEEAGIASGG	6.0	6.0	-	-	3903_16:28507353-28507353 G>A_AETASGGEEAGTTSGGEEAGIASGG
7:136700514-136700514 T>A	0.0	3903	MELANOMA	-	-	-	-	CHRM2	uc003vtf.1,p.I301K|NM_001006627,p.I301K|ENST00000445907,p.I301K|NM_001006629,p.I301K|ENST00000401861,p.I301K|uc003vtm.1,p.I301K|uc003vtg.1,p.I301K|NM_001006630,p.I301K|NM_001006632,p.I301K|NM_001006626,p.I301K|uc022ame.1,p.I301K|ENST00000320658,p.I301K|uc003vtn.1,p.I301K|uc003vto.1,p.I301K|ENST00000453373,p.I301K|NM_001006628,p.I301K|ENST00000397608,p.I301K|uc003vti.1,p.I301K|NM_000739,p.I301K|uc003vtl.1,p.I301K|uc003vtk.1,p.I301K|NM_001006631,p.I301K|uc003vtj.1,p.I301K|ENST00000402486,p.I301K	protein_coding, processed_transcript	uc022ame.1	nonsynonymous SNV	exon1	c.T902A	p.I301K	VSAVASNMRDDEITQDENTVSTSLG	VSAVASNMRDDEKTQDENTVSTSLG	1.0	5.0	-	-	3903_7:136700514-136700514 T>A_VSAVASNMRDDEKTQDENTVSTSLG
12:117160932-117160932 G>A	1.0	3903	MELANOMA	-	-	-	-	C12orf49	ENST00000261318,p.R70C|uc001tvz.1,p.R70C|NM_024738,p.R70C	protein_coding, nonsense_mediated_decay	uc001tvz.1	nonsynonymous SNV	exon2	c.C208T	p.R70C	PWKVQFNLGNSSRPSNQCRNSIQGK	PWKVQFNLGNSSCPSNQCRNSIQGK	8.0	6.0	-	-	3903_12:117160932-117160932 G>A_PWKVQFNLGNSSCPSNQCRNSIQGK
5:31302286-31302286 G>A	0.0	3903	MELANOMA	-	-	-	-	CDH6	NM_004932,p.D294N|ENST00000514738,p.D239N|uc003jhd.2,p.D294N|uc003jhe.2,p.D294N|ENST00000265071,p.D294N	retained_intron, protein_coding	uc003jhe.2	nonsynonymous SNV	exon6	c.G880A	p.D294N	PPGTPIGRIKASDADVGENAEIEYS	PPGTPIGRIKASNADVGENAEIEYS	4.0	5.0	-	-	3903_5:31302286-31302286 G>A_PPGTPIGRIKASNADVGENAEIEYS
8:55537910-55537910 G>A	0.0	3903	MELANOMA	-	-	ID=COSM1686061;OCCURENCE=2(skin)	-	RP1	NM_006269,p.E490K|uc003xsd.1,p.E490K|ENST00000220676,p.E490K	protein_coding	uc003xsd.1	nonsynonymous SNV	exon4	c.G1468A	p.E490K	KMIGQFSYSEERESGENKSEYHMFT	KMIGQFSYSEERKSGENKSEYHMFT	1.0	6.0	-	-	3903_8:55537910-55537910 G>A_KMIGQFSYSEERKSGENKSEYHMFT
1:109472551-109472551 G>A	1.0	3903	MELANOMA	-	-	-	-	GPSM2	ENST00000406462,p.A682T|uc010ovc.2,p.A682T|NM_013296,p.A682T|uc010ove.1,p.A682T|uc010ovd.2,p.A682T|ENST00000264126,p.A682T	protein_coding	uc010ove.1	nonsynonymous SNV	exon15	c.G2044A	p.A682T	ALLEFKNSGKKSADH	ALLEFKNSGKKSTDH	8.0	4.0	-	-	3903_1:109472551-109472551 G>A_ALLEFKNSGKKSTDH
14:92047243-92047243 G>A	0.0	3903	MELANOMA	-	-	-	-	CATSPERB	ENST00000256343,p.S1114F|uc001xzs.1,p.S1114F|NM_024764,p.S1114F|uc010aub.1,p.S636F	retained_intron, protein_coding, nonsense_mediated_decay	uc010aub.1	nonsynonymous SNV	exon13	c.C1907T	p.S636F	SISLSELIHRSKSEE	SISLSELIHRSKFEE	1.0	4.0	-	-	3903_14:92047243-92047243 G>A_SISLSELIHRSKFEE
2:230652360-230652360 A>G	1.0	3919	MELANOMA	-	-	-	-	TRIP12	uc002vpy.1,p.F1274S|NM_001284215,p.F1577S|ENST00000389044,p.F1592S|ENST00000389045,p.F1274S|uc002vpw.1,p.F1544S|NM_004238,p.F1544S|uc021vxw.1,p.F1577S|NM_001284214,p.F1592S|uc002vpx.1,p.F1592S|NM_001284216,p.F1274S|ENST00000283943,p.F1544S	retained_intron, protein_coding	uc021vxw.1	nonsynonymous SNV	exon31	c.T4730C	p.F1577S	TELGKTCPFFFPFDTRQMLFYVTAF	TELGKTCPFFFPSDTRQMLFYVTAF	10.0	8.0	CD8	-	3919_2:230652360-230652360 A>G_TELGKTCPFFFPSDTRQMLFYVTAF
5:118485291-118485291 G>T	1.0	3919	MELANOMA	-	-	-	-	DMXL1	ENST00000311085,p.G1257W|uc010jcl.1,p.G1257W|NM_001290322,p.G1084W|uc021ycw.1,p.G1084W|uc003ksd.2,p.G1257W|NM_001290321,p.G1257W|NM_005509,p.G1257W|ENST00000539542,p.G1257W	retained_intron, protein_coding, processed_transcript	uc021ycw.1	nonsynonymous SNV	exon18	c.G3250T	p.G1084W	SKQEPVITDSYSGSTPSITSLIKQS	SKQEPVITDSYSWSTPSITSLIKQS	7.0	9.0	-	-	3919_5:118485291-118485291 G>T_SKQEPVITDSYSWSTPSITSLIKQS
22:36922149-36922149 G>A	1.0	3919	MELANOMA	-	-	-	-	EIF3D	ENST00000402116,p.P7L|ENST00000432675,p.P7L|ENST00000541106,p.P7L|NM_003753,p.P7L|uc003apr.3,p.P7L|ENST00000455547,p.P7L|uc011amt.2,p.P7L|ENST00000216190,p.P7L|ENST00000457241,p.P7L|ENST00000405442,p.P7L	retained_intron, protein_coding, processed_transcript	uc011amt.2	nonsynonymous SNV	exon2	c.C20T	p.P7L	MAKFMTPVIQDNPSGWGPC	MAKFMTLVIQDNPSGWGPC	10.0	6.0	-	-	3919_22:36922149-36922149 G>A_MAKFMTLVIQDNPSGWGPC
17:26712088-26712088 C>A	1.0	3919	MELANOMA	-	-	-	-	SARM1	uc002hbe.1,p.T19N|ENST00000457710,p.T441N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002hbe.1	nonsynonymous SNV	exon2	c.C56A	p.T19N	RKRFFRELTELKTFANYSTCDRSNL	RKRFFRELTELKNFANYSTCDRSNL	10.0	3.0	-	-	3919_17:26712088-26712088 C>A_RKRFFRELTELKNFANYSTCDRSNL
1:186134267-186134267 C>T	1.0	3919	MELANOMA	-	-	-	-	HMCN1	ENST00000271588,p.S5094F|NM_031935,p.S5094F|uc001grq.1,p.S5094F|uc001grs.1,p.S663F|ENST00000367492,p.S5094F	protein_coding, processed_transcript	uc001grs.1	nonsynonymous SNV	exon16	c.C1988T	p.S663F	SISKGDRSNQCPSGFTLDSVGPFCA	SISKGDRSNQCPFGFTLDSVGPFCA	8.0	7.0	-	-	3919_1:186134267-186134267 C>T_SISKGDRSNQCPFGFTLDSVGPFCA
2:136481699-136481699 C>T	1.0	3919	MELANOMA	-	-	-	-	R3HDM1	uc002tup.3,p.P991L|ENST00000410054,p.P991L|uc002tuo.3,p.P1046L|NM_001282798,p.P1047L|uc010zbh.2,p.P794L|ENST00000409606,p.P1047L|NM_015361,p.P1046L|NM_001282799,p.P918L|ENST00000409478,p.P918L|ENST00000329971,p.P917L|uc010fni.3,p.P1045L|ENST00000264160,p.P1046L|NM_001282800,p.P991L	retained_intron, protein_coding, processed_transcript	uc010zbh.2	nonsynonymous SNV	exon18	c.C2381T	p.P794L	SGDNTANPERSKPSDLASTYTVLAT	SGDNTANPERSKLSDLASTYTVLAT	8.0	4.0	-	-	3919_2:136481699-136481699 C>T_SGDNTANPERSKLSDLASTYTVLAT
19:49693511-49693511 C>T	1.0	3919	MELANOMA	-	-	-	-	TRPM4	ENST00000355712,p.P335L|uc010yal.2,p.P335L|NM_001195227,p.P689L|ENST00000427978,p.P689L|uc010emv.3,p.P574L|uc010yak.2,p.P153L|NM_017636,p.P689L|uc010emu.3,p.P689L|uc002pmx.3,p.P515L|uc002pmw.3,p.P689L|ENST00000252826,p.P689L|uc002pmy.3,p.P31L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yal.2	nonsynonymous SNV	exon10	c.C1004T	p.P335L	TQKWWGDMASTTPIWALVLAFFCPP	TQKWWGDMASTTLIWALVLAFFCPP	10.0	7.0	unscreened	-	3919_19:49693511-49693511 C>T_TQKWWGDMASTTLIWALVLAFFCPP
7:6426892-6426892 C>T	1.0	3919	MELANOMA	-	-	ID=COSM1167878,COSM125734;OCCURENCE=3(NS),1(upper_aerodigestive_tract),1(breast),38(skin),1(endometrium)	1	RAC1	uc003spx.3,p.P29S|NM_006908,p.P29S|uc003spw.3,p.P29S|ENST00000356142,p.P29S|ENST00000348035,p.P29S|NM_018890,p.P29S	retained_intron, protein_coding, processed_transcript	uc003spx.3	nonsynonymous SNV	exon2	c.C85T	p.P29S	TCLLISYTTNAFPGEYIPTVFDNYS	TCLLISYTTNAFSGEYIPTVFDNYS	10.0	6.0	-	-	3919_7:6426892-6426892 C>T_TCLLISYTTNAFSGEYIPTVFDNYS
8:10285781-10285781 G>T	1.0	3919	MELANOMA	-	-	-	-	MSRA	NM_012331,p.G223W|ENST00000441698,p.G183W|ENST00000528246,p.G157W|ENST00000317173,p.G223W|ENST00000382490,p.G180W|NM_001135671,p.G180W|NM_001135670,p.G183W|uc011kwx.2,p.G183W|NM_001199729,p.G157W|uc003wsz.3,p.G180W|uc003wsy.3,p.G157W|uc003wsx.3,p.G223W	retained_intron, protein_coding, processed_transcript	uc011kwx.2	nonsynonymous SNV	exon5	c.G547T	p.G183W	YLSKNPNGYCGLGGTGVSCPVGIKK	YLSKNPNGYCGLWGTGVSCPVGIKK	8.0	5.0	unscreened	-	3919_8:10285781-10285781 G>T_YLSKNPNGYCGLWGTGVSCPVGIKK
1:169821970-169821970 G>A	1.0	3919	MELANOMA	-	-	-	-	C1orf112	uc001ggr.3,p.E667K|ENST00000286031,p.E802K|uc001ggq.3,p.E802K|ENST00000359326,p.E802K|NM_018186,p.E802K|uc010plv.2,p.E744K|uc009wvt.3,p.E479K|uc001ggp.3,p.E802K	protein_coding, processed_transcript	uc010plv.2	nonsynonymous SNV	exon20	c.G2230A	p.E744K	YAKRARQEFPWEEEYRSALHTIAGA	YAKRARQEFPWEKEYRSALHTIAGA	8.0	6.0	-	-	3919_1:169821970-169821970 G>A_YAKRARQEFPWEKEYRSALHTIAGA
7:47343109-47343109 G>A	1.0	3919	MELANOMA	-	-	-	-	TNS3	ENST00000311160,p.P966S|ENST00000355730,p.P726S|ENST00000398879,p.P966S|ENST00000457718,p.P1069S|uc022acn.1,p.P523S|NM_022748,p.P966S|uc003tnw.3,p.P966S	retained_intron, protein_coding, processed_transcript	uc022acn.1	nonsynonymous SNV	exon6	c.C1567T	p.P523S	PKPMVSLLGSGRPTGSPLSAEFSGT	PKPMVSLLGSGRSTGSPLSAEFSGT	9.0	6.0	-	-	3919_7:47343109-47343109 G>A_PKPMVSLLGSGRSTGSPLSAEFSGT
11:68030261-68030261 C>T	1.0	3919	MELANOMA	-	-	-	-	C11orf24	NM_022338,p.G68R|ENST00000304271,p.G68R|ENST00000533310,p.G68R|NM_001300913,p.G68R|uc001onr.4,p.G68R	retained_intron, protein_coding, processed_transcript	uc001onr.4	nonsynonymous SNV	exon4	c.G202A	p.G68R	TMAAASPVTLTKGTSAAHLNSMEVT	TMAAASPVTLTKRTSAAHLNSMEVT	8.0	4.0	-	-	3919_11:68030261-68030261 C>T_TMAAASPVTLTKRTSAAHLNSMEVT
22:31492877-31492877 C>T	1.0	3919	MELANOMA	-	-	-	-	SMTN	NM_134270,p.H674Y|NM_134269,p.H674Y|ENST00000358743,p.H674Y|ENST00000347557,p.H674Y|ENST00000333137,p.H674Y|uc011ale.2,p.H759Y|NM_001207017,p.H759Y|NM_001207018,p.H730Y|uc003ajm.2,p.H674Y|uc003ajl.2,p.H674Y|NM_006932,p.H674Y|uc003ajn.2,p.H697Y|uc003ajk.2,p.H674Y|uc011alf.2,p.H730Y|uc011alg.2,p.H130Y	retained_intron, protein_coding, processed_transcript	uc011alg.2	nonsynonymous SNV	exon4	c.C388T	p.H130Y	AVSTVTKTERLVHSNDGTRTARTTT	AVSTVTKTERLVYSNDGTRTARTTT	10.0	5.0	-	-	3919_22:31492877-31492877 C>T_AVSTVTKTERLVYSNDGTRTARTTT
19:36594401-36594401 C>T	1.0	3919	MELANOMA	-	-	-	-	WDR62	ENST00000401500,p.S1224F|NM_001083961,p.S1224F|ENST00000270301,p.S1219F|uc002odc.2,p.S1219F|uc002odd.2,p.S1224F|NM_173636,p.S1219F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002odd.2	nonsynonymous SNV	exon30	c.C3671T	p.S1224F	PSTCSYMEATASSRARISRSISLGD	PSTCSYMEATASFRARISRSISLGD	5.0	7.0	-	-	3919_19:36594401-36594401 C>T_PSTCSYMEATASFRARISRSISLGD
7:93519909-93519909 G>C	1.0	3919	MELANOMA	-	-	-	-	TFPI2	uc003una.2,p.P28A|NM_001271003,p.P28A	retained_intron, protein_coding	uc003una.2	nonsynonymous SNV	exon1	c.C82G	p.P28A	LTEAALGDAAQEPTDYGPCRALLLR	LTEAALGDAAQEATDYGPCRALLLR	9.0	2.0	unscreened	-	3919_7:93519909-93519909 G>C_LTEAALGDAAQEATDYGPCRALLLR
1:65332583-65332583 C>T	1.0	3919	MELANOMA	-	-	-	1	JAK1	NM_002227,p.G319E|uc001dbu.1,p.G319E|ENST00000342505,p.G319E|uc009wam.1,p.G319E	protein_coding, processed_transcript	uc009wam.1	nonsynonymous SNV	exon8	c.G956A	p.G319E	GGNVLYYEVMVTGNLGIQWRHKPNV	GGNVLYYEVMVTENLGIQWRHKPNV	9.0	5.0	-	-	3919_1:65332583-65332583 C>T_GGNVLYYEVMVTENLGIQWRHKPNV
3:50374702-50374702 T>C	1.0	3919	MELANOMA	-	-	-	-	RASSF1	uc003dab.1,p.T17A|ENST00000327761,p.T17A|NM_170713,p.T17A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003dab.1	nonsynonymous SNV	exon1	c.A49G	p.T17A	EAPSFEMTWSSTTSSGYCSQEDSDS	EAPSFEMTWSSTASSGYCSQEDSDS	6.0	1.0	-	-	3919_3:50374702-50374702 T>C_EAPSFEMTWSSTASSGYCSQEDSDS
16:28846500-28846500 C>T	1.0	3919	MELANOMA	-	-	-	-	ATXN2L	ENST00000382686,p.A852V|uc002dra.4,p.A852V|uc002drc.4,p.A852V|ENST00000562583,p.A178V|uc002dqy.4,p.A852V|ENST00000395547,p.A852V|ENST00000564304,p.A858V|ENST00000570200,p.A852V|ENST00000325215,p.A852V|NM_148416,p.A852V|ENST00000340394,p.A852V|ENST00000566946,p.A177V|uc002drf.3,p.A261V|ENST00000336783,p.A852V|NM_145714,p.A852V|NM_148415,p.A852V|NM_007245,p.A852V|uc010vdb.3,p.A858V|uc002drb.4,p.A852V|uc002dqz.4,p.A852V|NM_017492,p.A852V|uc002drg.3,p.A134V|uc002dre.4,p.A852V|NM_148414,p.A852V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vdb.3	nonsynonymous SNV	exon19	c.C2573T	p.A858V	PQYPSAEQPTPQALYATVHQSYPHH	PQYPSAEQPTPQVLYATVHQSYPHH	9.0	5.0	-	-	3919_16:28846500-28846500 C>T_PQYPSAEQPTPQVLYATVHQSYPHH
17:65184506-65184506 G>A	1.0	3919	MELANOMA	-	-	-	-	HELZ	uc010wqk.2,p.T364I|ENST00000417253,p.T364I|NM_014877,p.T364I|ENST00000580168,p.T364I|uc002jfx.4,p.T364I|ENST00000358691,p.T364I|ENST00000579953,p.T364I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay	uc010wqk.2	nonsynonymous SNV	exon12	c.C1091T	p.T364I	AFNTEIFGTFRQTIVFDFGLEPVLM	AFNTEIFGTFRQIIVFDFGLEPVLM	9.0	5.0	unscreened	-	3919_17:65184506-65184506 G>A_AFNTEIFGTFRQIIVFDFGLEPVLM
7:100800001-100800001 C>A	1.0	3919	MELANOMA	-	-	-	-	AP1S1	ENST00000443943,p.P44T|NM_001283,p.P44T|ENST00000337619,p.P44T|uc003uxv.4,p.P44T	protein_coding, nonsense_mediated_decay	uc003uxv.4	nonsynonymous SNV	exon2	c.C130A	p.P44T	VRELMQVVLARKPKMCSFLEWRDLK	VRELMQVVLARKTKMCSFLEWRDLK	10.0	1.0	unscreened	-	3919_7:100800001-100800001 C>A_VRELMQVVLARKTKMCSFLEWRDLK
17:73895350-73895350 G>T	1.0	3919	MELANOMA	-	-	-	-	MRPL38	uc010wso.1,p.R299S|NM_032478,p.R299S|ENST00000409963,p.R115S|ENST00000309352,p.R299S	retained_intron, protein_coding, processed_transcript	uc010wso.1	nonsynonymous SNV	exon8	c.C895A	p.R299S	PSPCYQLAQRTFRTFDFYKKHQETM	PSPCYQLAQRTFSTFDFYKKHQETM	5.0	3.0	-	-	3919_17:73895350-73895350 G>T_PSPCYQLAQRTFSTFDFYKKHQETM
17:74936587-74936587 C>T	1.0	3919	MELANOMA	-	-	-	-	MGAT5B	ENST00000569840,p.S563F|uc002jth.3,p.S561F|NM_144677,p.S561F|uc031rem.1,p.S563F|ENST00000428789,p.S572F|NM_001199172,p.S563F|ENST00000301618,p.S561F|NM_198955,p.S572F|uc002jti.3,p.S572F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rem.1	nonsynonymous SNV	exon14	c.C1688T	p.S563F	IFLQSRFSPPHSSLNHEFFRGKPTS	IFLQSRFSPPHSFLNHEFFRGKPTS	5.0	10.0	-	-	3919_17:74936587-74936587 C>T_IFLQSRFSPPHSFLNHEFFRGKPTS
20:49509389-49509389 T>C	1.0	3919	MELANOMA	-	-	-	-	ADNP	uc002xvt.1,p.K621R|NM_015339,p.K621R|ENST00000371602,p.K621R|ENST00000349014,p.K621R|ENST00000396032,p.K621R|NM_181442,p.K621R|ENST00000396029,p.K621R|uc002xvu.1,p.K621R|NM_001282532,p.K621R|NM_001282531,p.K621R	protein_coding	uc002xvu.1	nonsynonymous SNV	exon4	c.A1862G	p.K621R	PQAAVPYKKDVGKTLCPLCFSILKG	PQAAVPYKKDVGRTLCPLCFSILKG	8.0	7.0	-	-	3919_20:49509389-49509389 T>C_PQAAVPYKKDVGRTLCPLCFSILKG
20:33000352-33000352 C>T	1.0	3919	MELANOMA	-	-	-	-	ITCH	uc010geu.2,p.R82C|NM_001257137,p.R82C|ENST00000262650,p.R82C|ENST00000374864,p.R82C|uc002xak.3,p.R82C|NM_031483,p.R82C	protein_coding, processed_transcript	uc010geu.2	nonsynonymous SNV	exon5	c.C244T	p.R82C	TVIVTPVSKLHFRVWSHQTLKSDVL	TVIVTPVSKLHFCVWSHQTLKSDVL	9.0	7.0	-	-	3919_20:33000352-33000352 C>T_TVIVTPVSKLHFCVWSHQTLKSDVL
16:84529386-84529386 G>A	1.0	3919	MELANOMA	-	-	-	-	TLDC1	ENST00000535580,p.S69F|ENST00000566995,p.S96F|ENST00000343629,p.S96F|ENST00000565079,p.S96F|NM_020947,p.S96F|uc002fib.3,p.S96F|uc010vod.2,p.S69F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vod.2	nonsynonymous SNV	exon4	c.C206T	p.S69F	ENVSQEQFTASMSHLLKGNSEEKSL	ENVSQEQFTASMFHLLKGNSEEKSL	6.0	5.0	unscreened	-	3919_16:84529386-84529386 G>A_ENVSQEQFTASMFHLLKGNSEEKSL
21:47776951-47776951 G>T	1.0	3919	MELANOMA	-	-	-	-	PCNT	NM_006031,p.A667S|uc002zjj.3,p.A549S|uc002zji.4,p.A667S|ENST00000359568,p.A667S	retained_intron, protein_coding, processed_transcript	uc002zjj.3	nonsynonymous SNV	exon13	c.G1645T	p.A549S	VQDGDLEADTERAARVLGLETEHKV	VQDGDLEADTERSARVLGLETEHKV	9.0	1.0	unscreened	-	3919_21:47776951-47776951 G>T_VQDGDLEADTERSARVLGLETEHKV
10:64973823-64973823 G>A	1.0	3919	MELANOMA	-	-	-	-	JMJD1C	uc010qiq.2,p.P520S|ENST00000399262,p.P702S|uc009xpi.3,p.P520S|ENST00000402544,p.P483S|ENST00000542921,p.P520S|uc001jml.3,p.P483S|NM_032776,p.P702S|uc001jmn.3,p.P702S|NM_001282948,p.P520S|ENST00000399251,p.P483S|uc001jmp.1,p.P414S|uc001jmm.3,p.P414S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qiq.2	nonsynonymous SNV	exon7	c.C1558T	p.P520S	PTRSSTLETTKSPLIIDKNEHFTVY	PTRSSTLETTKSSLIIDKNEHFTVY	7.0	10.0	-	-	3919_10:64973823-64973823 G>A_PTRSSTLETTKSSLIIDKNEHFTVY
12:53865583-53865583 C>G	1.0	3919	MELANOMA	-	-	-	-	PCBP2	ENST00000437231,p.I304M|uc010soi.2,p.I89M|ENST00000546463,p.I348M|ENST00000439930,p.I351M|ENST00000549863,p.I307M|uc001sde.4,p.I347M|ENST00000447282,p.I321M|NM_001098620,p.I317M|NM_001128913,p.I321M|ENST00000603815,p.I351M|uc001sdk.4,p.I124M|ENST00000552296,p.I347M|uc001sdf.4,p.I304M|uc001sdl.4,p.I351M|uc001sdd.4,p.I317M|ENST00000455667,p.I304M|ENST00000359462,p.I352M|NM_001128914,p.I304M|NM_031989,p.I348M|uc001sdi.4,p.I321M|ENST00000548933,p.I321M|ENST00000359282,p.I317M|NM_005016,p.I352M|uc010soj.2,p.I101M|ENST00000552819,p.I308M|NM_001128911,p.I351M|uc001sdb.4,p.I348M|uc001sdc.4,p.I352M|NM_001128912,p.I347M	retained_intron, protein_coding, nonsense_mediated_decay	uc010soj.2	nonsynonymous SNV	exon5	c.C303G	p.I101M	GSAASISLAQYLINVRLSSETGGMG	GSAASISLAQYLMNVRLSSETGGMG	10.0	2.0	unscreened	-	3919_12:53865583-53865583 C>G_GSAASISLAQYLMNVRLSSETGGMG
17:79077486-79077486 C>T	1.0	3919	MELANOMA	-	-	-	-	BAIAP2	NM_006340,p.P276L|uc002jyz.4,p.P276L|uc002jzf.2,p.P276L|ENST00000416299,p.P139L|ENST00000435091,p.P276L|ENST00000428708,p.P276L|uc002jzd.2,p.P276L|uc002jzh.2,p.P277L|ENST00000576756,p.P33L|ENST00000575245,p.P309L|uc010wuh.1,p.P198L|uc002jze.2,p.P309L|ENST00000572073,p.P218L|uc002jzg.2,p.P276L|uc002jza.2,p.P276L|NM_001144888,p.P276L|ENST00000321280,p.P276L|ENST00000321300,p.P276L|uc010wui.2,p.P139L|uc002jzc.2,p.P276L|ENST00000575712,p.P276L|NM_017450,p.P276L|NM_017451,p.P276L|ENST00000392411,p.P198L|uc002jzb.2,p.P33L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wui.2	nonsynonymous SNV	exon3	c.C416T	p.P139L	NLVISDPIPGAKPLPVPPELAPFVG	NLVISDPIPGAKLLPVPPELAPFVG	8.0	9.0	-	-	3919_17:79077486-79077486 C>T_NLVISDPIPGAKLLPVPPELAPFVG
16:75446453-75446453 G>A	1.0	3919	MELANOMA	-	-	-	-	CFDP1	NM_006324,p.P128S|uc002fdy.3,p.P128S|uc002fea.1,p.P128S|ENST00000283882,p.P128S|uc002fdz.3,p.P42S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002fea.1	nonsynonymous SNV	exon3	c.C382T	p.P128S	SFLNDVGPKSKVPPSTQVKKGEETE	SFLNDVGPKSKVSPSTQVKKGEETE	8.0	7.0	CD8	-	3919_16:75446453-75446453 G>A_SFLNDVGPKSKVSPSTQVKKGEETE
1:115256529-115256529 T>C	1.0	3919	MELANOMA	-	-	ID=COSM584;OCCURENCE=4(soft_tissue),3(ovary),4(endometrium),474(skin),7(breast),1(small_intestine),7(urinary_tract),7(adrenal_gland),1(liver),4(eye),2(pancreas),4(biliary_tract),49(large_intestine),5(central_nervous_system),49(NS),289(thyroid),12(lung),9(meninges),3(testis),69(haematopoietic_and_lymphoid_tissue)	1	NRAS	ENST00000369535,p.Q61R|uc009wgu.3,p.Q61R|NM_002524,p.Q61R	protein_coding	uc009wgu.3	nonsynonymous SNV	exon3	c.A182G	p.Q61R	ETCLLDILDTAGQEEYSAMRDQYMR	ETCLLDILDTAGREEYSAMRDQYMR	9.0	8.0	-	-	3919_1:115256529-115256529 T>C_ETCLLDILDTAGREEYSAMRDQYMR
18:21698089-21698089 G>A	1.0	3919	MELANOMA	-	-	ID=COSM1480258,COSM1480259;OCCURENCE=1(breast)	-	TTC39C	NM_001292030,p.G53D|NM_153211,p.G299D|uc002kuu.3,p.G299D|ENST00000304621,p.G299D|NM_001135993,p.G360D|ENST00000317571,p.G360D|ENST00000540918,p.G53D|uc002kuw.3,p.G360D	retained_intron, protein_coding, processed_transcript	uc002kuw.3	nonsynonymous SNV	exon8	c.G1079A	p.G360D	QREIQHVCLYEIGWCSMIELNFKDA	QREIQHVCLYEIDWCSMIELNFKDA	7.0	9.0	-	-	3919_18:21698089-21698089 G>A_QREIQHVCLYEIDWCSMIELNFKDA
11:123466678-123466678 C>T	1.0	3919	MELANOMA	-	-	-	-	GRAMD1B	uc001pyw.2,p.S165F|ENST00000322282,p.S158F|uc001pyx.2,p.S158F|uc009zbe.1,p.S154F|NM_001286564,p.S118F|ENST00000529432,p.S118F|uc010rzw.2,p.S118F|ENST00000529750,p.S158F|NM_001286563,p.S165F|ENST00000456860,p.S165F|ENST00000534764,p.S154F|NM_020716,p.S158F|uc010rzx.1,p.S118F	retained_intron, protein_coding	uc010rzx.1	nonsynonymous SNV	exon6	c.C353T	p.S118F	ETLLTVRLKDICSMTKEKTARLIPN	ETLLTVRLKDICFMTKEKTARLIPN	6.0	8.0	unscreened	-	3919_11:123466678-123466678 C>T_ETLLTVRLKDICFMTKEKTARLIPN
12:53865583-53865583 C>G	1.0	3919	MELANOMA	-	-	-	-	PCBP2	ENST00000553064,p.I192M	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000553064	nonsynonymous SNV	exon7	c.C576G	p.I192M	GSAASISLAQYLINVSLENAKPSSQ	GSAASISLAQYLMNVSLENAKPSSQ	10.0	2.0	unscreened	-	3919_12:53865583-53865583 C>G_GSAASISLAQYLMNVSLENAKPSSQ
8:38677540-38677540 C>T	1.0	3919	MELANOMA	-	-	-	-	TACC1	uc011lca.2,p.P260S|uc010lwp.3,p.P260S|NM_006283,p.P260S|ENST00000518415,p.P215S|ENST00000443286,p.P276S|uc011lbz.2,p.P276S|ENST00000520340,p.P224S|ENST00000521935,p.P65S|ENST00000317827,p.P260S|uc011lcc.2,p.P65S|uc010lwq.3,p.P65S|uc003xmc.4,p.P65S|uc011lcb.2,p.P65S|uc011lby.1,p.P65S|uc003xmb.4,p.P215S|NM_001146216,p.P65S|ENST00000522904,p.P232S|ENST00000520973,p.P65S|ENST00000520615,p.P65S|uc003xmh.4,p.P65S|ENST00000379931,p.P260S|ENST00000519416,p.P65S|uc003xlz.3,p.P65S	retained_intron, protein_coding, processed_transcript	uc011lcc.2	nonsynonymous SNV	exon2	c.C193T	p.P65S	SDTNAAVEGTPLPKASYHFSPEELD	SDTNAAVEGTPLSKASYHFSPEELD	9.0	4.0	-	-	3919_8:38677540-38677540 C>T_SDTNAAVEGTPLSKASYHFSPEELD
19:7605129-7605129 G>A	1.0	3919	MELANOMA	-	-	-	-	PNPLA6	ENST00000450331,p.G178S|uc010xjp.2,p.G178S|ENST00000545201,p.G178S|NM_001166112,p.G178S|uc002mgq.2,p.G178S|ENST00000600737,p.G217S|ENST00000221249,p.G178S|uc002mgs.3,p.G217S|NM_006702,p.G178S|NM_001166113,p.G178S|NM_001166114,p.G217S|uc010xjq.2,p.G226S|ENST00000414982,p.G226S|NM_001166111,p.G226S|uc002mgr.2,p.G178S	retained_intron, protein_coding, processed_transcript	uc010xjq.2	nonsynonymous SNV	exon7	c.G676A	p.G226S	QRLGQGDYVFRPGQPDASIYVVQDG	QRLGQGDYVFRPSQPDASIYVVQDG	9.0	8.0	-	-	3919_19:7605129-7605129 G>A_QRLGQGDYVFRPSQPDASIYVVQDG
7:100800002-100800002 C>G	1.0	3919	MELANOMA	-	-	-	-	AP1S1	uc003uxv.4,p.P44R|NM_001283,p.P44R|ENST00000337619,p.P44R|ENST00000443943,p.P44R	protein_coding, nonsense_mediated_decay	uc003uxv.4	nonsynonymous SNV	exon2	c.C131G	p.P44R	VRELMQVVLARKPKMCSFLEWRDLK	VRELMQVVLARKRKMCSFLEWRDLK	10.0	1.0	unscreened	-	3919_7:100800002-100800002 C>G_VRELMQVVLARKRKMCSFLEWRDLK
1:116944232-116944232 C>T	1.0	3919	MELANOMA	-	-	-	1	ATP1A1	NM_001160234,p.S938F|NM_000701,p.S969F|uc001ege.3,p.S969F|ENST00000295598,p.S969F|ENST00000537345,p.S969F|uc010owv.1,p.S938F|uc010owx.2,p.S938F|NM_001160233,p.S969F|ENST00000369496,p.S938F|ENST00000440951,p.S136F|uc010oww.2,p.S969F	retained_intron, protein_coding, processed_transcript	uc010owx.2	nonsynonymous SNV	exon21	c.C2813T	p.S938F	GLFEETALAAFLSYCPGMGVALRMY	GLFEETALAAFLFYCPGMGVALRMY	10.0	5.0	-	-	3919_1:116944232-116944232 C>T_GLFEETALAAFLFYCPGMGVALRMY
17:77075666-77075666 T>-	0.0	3919	MELANOMA	-	-	-	-	ENGASE	NM_001042573,p.I171fs|uc002jwv.4,p.I171fs|ENST00000579016,p.I171fs|uc002jwu.1,p.I171fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jwv.4	frameshift deletion	exon4	c.512delT	p.I171fs	DVFVYFSHHTVTIPPVGWTNTAHRH	DVFVYFSHHTVTIPQWAGPTLPTGMGSACWGLSSRSGMKGEGSVKPSWPGMSARTRQWLTGWSRSLSFFVLMAG	5.0	2.0	unscreened	-	3919_17:77075666-77075666 T>-_DVFVYFSHHTVTIPQWAGPTLPTGMGSACWGLSSRSGMKGEGSVKPSWPGMSARTRQWLTGWSRSLSFFVLMAG
15:44955682-44955682 C>T	1.0	3919	MELANOMA	-	-	-	-	SPG11	NM_001160227,p.G55E|NM_025137,p.G55E|uc010uei.2,p.G55E|uc010ueh.2,p.G55E|ENST00000558319,p.G55E|ENST00000535302,p.G55E|uc001ztx.3,p.G55E|ENST00000261866,p.G55E|ENST00000427534,p.G55E|uc001zua.1,p.G55E|ENST00000559193,p.G55E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay	uc010uei.2	nonsynonymous SNV	exon1	c.G164A	p.G55E	SRAQLRTQPEALGSLTAAGSLQVLS	SRAQLRTQPEALESLTAAGSLQVLS	8.0	2.0	-	-	3919_15:44955682-44955682 C>T_SRAQLRTQPEALESLTAAGSLQVLS
4:56759872-56759872 G>T	1.0	3919	MELANOMA	-	-	-	-	EXOC1	uc003hbf.1,p.D627Y|uc003hbg.1,p.D612Y|ENST00000349598,p.D612Y|ENST00000381295,p.D627Y|ENST00000346134,p.D627Y|NM_018261,p.D627Y|uc003hbe.1,p.D627Y|NM_178237,p.D612Y|NM_001024924,p.D627Y	retained_intron, protein_coding	uc003hbg.1	nonsynonymous SNV	exon14	c.G1834T	p.D612Y	KMSHHVWTAQNVDPASFLSTTLGNV	KMSHHVWTAQNVYPASFLSTTLGNV	5.0	3.0	-	-	3919_4:56759872-56759872 G>T_KMSHHVWTAQNVYPASFLSTTLGNV
13:110850910-110850910 C>T	1.0	3919	MELANOMA	-	-	-	-	COL4A1	ENST00000375820,p.G397R|uc001vqw.4,p.G397R|ENST00000543140,p.G397R|NM_001845,p.G397R	protein_coding, processed_transcript	uc001vqw.4	nonsynonymous SNV	exon21	c.G1189A	p.G397R	GFPGERGEKGDRGFPGTSLPGPSGR	GFPGERGEKGDRRFPGTSLPGPSGR	10.0	1.0	unscreened	-	3919_13:110850910-110850910 C>T_GFPGERGEKGDRRFPGTSLPGPSGR
16:67270598-67270598 G>A	1.0	3919	MELANOMA	-	-	ID=COSM140766;OCCURENCE=1(skin)	-	FHOD1	uc010vjh.1,p.S54F	retained_intron, protein_coding, nonsense_mediated_decay	uc010vjh.1	nonsynonymous SNV	exon11	c.C161T	p.S54F	NLGPASPVGPTSSTGPALLTGPASS	NLGPASPVGPTSFTGPALLTGPASS	9.0	6.0	unscreened	-	3919_16:67270598-67270598 G>A_NLGPASPVGPTSFTGPALLTGPASS
16:67270598-67270598 G>A	1.0	3919	MELANOMA	-	-	ID=COSM140766;OCCURENCE=1(skin)	-	FHOD1	NM_013241,p.S394F|uc010ced.3,p.S201F|uc002esl.3,p.S394F|ENST00000258201,p.S394F	retained_intron, protein_coding, nonsense_mediated_decay	uc010ced.3	nonsynonymous SNV	exon9	c.C602T	p.S201F	PTGPASPVGPTSSTGPALLTGPASS	PTGPASPVGPTSFTGPALLTGPASS	9.0	6.0	-	-	3919_16:67270598-67270598 G>A_PTGPASPVGPTSFTGPALLTGPASS
X:85211198-85211198 G>A	1.0	3919	MELANOMA	-	-	-	-	CHM	NM_000390,p.P376S|uc004eet.3,p.P376S|ENST00000357749,p.P376S|ENST00000537751,p.P228S|uc011mqz.2,p.P228S	protein_coding, processed_transcript	uc011mqz.2	nonsynonymous SNV	exon5	c.C682T	p.P228S	CLGRYGNTPFLFPLYGQGELPQCFC	CLGRYGNTPFLFSLYGQGELPQCFC	8.0	9.0	-	-	3919_X:85211198-85211198 G>A_CLGRYGNTPFLFSLYGQGELPQCFC
6:32149398-32149398 C>T	1.0	3919	MELANOMA	-	-	-	-	AGER	ENST00000375067,p.G274E|uc003oan.2,p.G274E|NM_172197,p.G274E	retained_intron, protein_coding	uc003oan.2	nonsynonymous SNV	exon8	c.G821A	p.G274E	SDLERGAGRTRRGGANCRLCGRIRA	SDLERGAGRTRREGANCRLCGRIRA	8.0	8.0	unscreened	-	3919_6:32149398-32149398 C>T_SDLERGAGRTRREGANCRLCGRIRA
9:107553222-107553222 C>T	1.0	3919	MELANOMA	-	-	-	-	ABCA1	NM_005502,p.A1970T|ENST00000374736,p.A1970T|uc004bcl.3,p.A1970T	protein_coding, processed_transcript	uc004bcl.3	nonsynonymous SNV	exon44	c.G5908A	p.A1970T	MLTGDTTVTRGDAFLNKNSILSNIH	MLTGDTTVTRGDTFLNKNSILSNIH	6.0	3.0	-	-	3919_9:107553222-107553222 C>T_MLTGDTTVTRGDTFLNKNSILSNIH
16:28601690-28601690 C>T	1.0	3919	MELANOMA	-	-	ID=COSM702750;OCCURENCE=1(lung)	-	CCDC101	NM_138414,p.R165W|uc002dqf.3,p.R165W|ENST00000317058,p.R165W	retained_intron, protein_coding, nonsense_mediated_decay	uc002dqf.3	nonsynonymous SNV	exon7	c.C493T	p.R165W	DYVARPGDKVAARVKAVDGDEQWIL	DYVARPGDKVAAWVKAVDGDEQWIL	6.0	4.0	-	-	3919_16:28601690-28601690 C>T_DYVARPGDKVAAWVKAVDGDEQWIL
21:26965144-26965144 A>C	1.0	3919	MELANOMA	-	-	-	-	MRPL39	NM_017446,p.S301A|uc002ylo.3,p.S301A|NM_080794,p.S301A|ENST00000307301,p.S301A|ENST00000352957,p.S301A|uc002yln.3,p.S301A	protein_coding	uc002ylo.3	nonsynonymous SNV	exon8	c.T901G	p.S301A	TQPSLIRRFQGVSLPVHLRAHFTIW	TQPSLIRRFQGVALPVHLRAHFTIW	6.0	5.0	unscreened	-	3919_21:26965144-26965144 A>C_TQPSLIRRFQGVALPVHLRAHFTIW
16:30977066-30977066 C>T	1.0	3919	MELANOMA	-	-	-	-	SETD1A	NM_014712,p.P622S|ENST00000262519,p.P622S|uc002ead.1,p.P622S	protein_coding	uc002ead.1	nonsynonymous SNV	exon8	c.C1864T	p.P622S	PPPPPPPYLASLPLGYPPHQPAYLL	PPPPPPPYLASLSLGYPPHQPAYLL	6.0	8.0	-	-	3919_16:30977066-30977066 C>T_PPPPPPPYLASLSLGYPPHQPAYLL
13:49776075-49776075 C>T	1.0	3919	MELANOMA	-	-	-	-	FNDC3A	NM_014923,p.P987S|NM_001079673,p.P1043S|ENST00000541916,p.P1043S|ENST00000398316,p.P987S|uc001vcq.3,p.P987S|ENST00000492622,p.P1043S|uc001vcm.3,p.P1043S|NM_001278438,p.P1043S|uc001vcn.3,p.P1043S	retained_intron, protein_coding, nonsense_mediated_decay	uc001vcq.3	nonsynonymous SNV	exon22	c.C2959T	p.P987S	EGPLSQEYIFTTPKSVPAALKAPKI	EGPLSQEYIFTTSKSVPAALKAPKI	9.0	9.0	-	-	3919_13:49776075-49776075 C>T_EGPLSQEYIFTTSKSVPAALKAPKI
13:21555646-21555646 C>T	1.0	3919	MELANOMA	-	-	-	-	LATS2	ENST00000382592,p.G875E|uc001unr.4,p.G875E|uc009zzs.3,p.G875E|ENST00000542899,p.G875E|NM_014572,p.G875E	protein_coding, processed_transcript	uc009zzs.3	nonsynonymous SNV	exon6	c.G2624A	p.G875E	KQHQRCLAHSLVGTPNYIAPEVLLR	KQHQRCLAHSLVETPNYIAPEVLLR	7.0	3.0	-	-	3919_13:21555646-21555646 C>T_KQHQRCLAHSLVETPNYIAPEVLLR
6:32800111-32800111 T>C	1.0	3919	MELANOMA	-	-	-	-	TAP2	ENST00000374899,p.Q424R|uc011dqf.1,p.Q424R|uc003ocb.1,p.Q424R|uc003ocd.3,p.Q424R|uc003occ.3,p.Q424R|NM_001290043,p.Q424R|ENST00000452392,p.Q424R|NM_018833,p.Q424R|ENST00000374897,p.Q424R	retained_intron, protein_coding, processed_transcript	uc011dqf.1	nonsynonymous SNV	exon7	c.A1271G	p.Q424R	FMIYQESVGSYVQTLVYIYGDMLSN	FMIYQESVGSYVRTLVYIYGDMLSN	5.0	3.0	-	-	3919_6:32800111-32800111 T>C_FMIYQESVGSYVRTLVYIYGDMLSN
1:167956827-167956827 C>T	1.0	3919	MELANOMA	-	-	-	-	DCAF6	uc001gey.3,p.T31I|uc001gev.3,p.T178I|NM_001198956,p.T178I|ENST00000470721,p.T178I|uc010plk.2,p.T147I|uc001gex.3,p.T178I|NM_018442,p.T178I|uc001gew.3,p.T178I|ENST00000367843,p.T178I|ENST00000367840,p.T178I|ENST00000312263,p.T178I|NM_001198957,p.T147I|NM_001017977,p.T178I|ENST00000432587,p.T147I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010plk.2	nonsynonymous SNV	exon4	c.C440T	p.T147I	VRWFDTRIKTSCTKEDCKDDILINC	VRWFDTRIKTSCIKEDCKDDILINC	10.0	6.0	unscreened	-	3919_1:167956827-167956827 C>T_VRWFDTRIKTSCIKEDCKDDILINC
2:26950561-26950561 G>A	1.0	3919	MELANOMA	-	-	-	-	KCNK3	uc002rhn.2,p.D104N|ENST00000302909,p.D104N|NM_002246,p.D104N	protein_coding	uc002rhn.2	nonsynonymous SNV	exon2	c.G310A	p.D104N	TTIGYGHAAPSTDGGKVFCMFYALL	TTIGYGHAAPSTNGGKVFCMFYALL	5.0	5.0	unscreened	-	3919_2:26950561-26950561 G>A_TTIGYGHAAPSTNGGKVFCMFYALL
20:1352812-1352812 T>C	1.0	3919	MELANOMA	-	-	-	-	FKBP1A	uc002wfa.3,p.I91V|ENST00000381715,p.I86V|ENST00000381724,p.I86V|ENST00000439640,p.I75V|NM_054014,p.I91V|uc010gae.2,p.I75V|ENST00000381719,p.I91V|ENST00000400137,p.I91V|uc002wey.3,p.I91V|NM_000801,p.I91V	protein_coding, processed_transcript	uc010gae.2	nonsynonymous SNV	exon3	c.A223G	p.I75V	PDYAYGATGHPGIIPPHATLVFDVE	PDYAYGATGHPGVIPPHATLVFDVE	10.0	2.0	-	-	3919_20:1352812-1352812 T>C_PDYAYGATGHPGVIPPHATLVFDVE
2:242173291-242173291 T>G	1.0	3919	MELANOMA	-	-	-	-	HDLBP	uc021vzg.1,p.I1045L|ENST00000391976,p.I1078L|ENST00000391975,p.I1078L|uc002wba.3,p.I1078L|ENST00000427183,p.I1045L|uc002waz.3,p.I1078L|NM_203346,p.I1078L|NM_001243900,p.I1045L|NM_005336,p.I1078L|ENST00000310931,p.I1078L	retained_intron, protein_coding, processed_transcript	uc021vzg.1	nonsynonymous SNV	exon24	c.A3133C	p.I1045L	KIIGRKGAVITQIRLEHDVNIQFPD	KIIGRKGAVITQLRLEHDVNIQFPD	10.0	1.0	-	-	3919_2:242173291-242173291 T>G_KIIGRKGAVITQLRLEHDVNIQFPD
16:3335207-3335207 C>T	1.0	3919	MELANOMA	-	-	-	-	ZNF263	ENST00000219069,p.P179L|uc002cuq.3,p.P179L|NM_005741,p.P179L	protein_coding, processed_transcript	uc002cuq.3	nonsynonymous SNV	exon2	c.C536T	p.P179L	PGPRLQELLGPSPQRDPQAVKERAL	PGPRLQELLGPSLQRDPQAVKERAL	10.0	4.0	-	-	3919_16:3335207-3335207 C>T_PGPRLQELLGPSLQRDPQAVKERAL
2:110259186-110259186 G>A	1.0	3919	MELANOMA	-	-	-	-	SH3RF3	ENST00000309415,p.G863R|NM_001099289,p.G863R|uc010ywt.1,p.G863R	protein_coding	uc010ywt.1	nonsynonymous SNV	exon10	c.G2587A	p.G863R	FVHKKREDGWYKGTLQRNGRTGLFP	FVHKKREDGWYKRTLQRNGRTGLFP	6.0	3.0	unscreened	-	3919_2:110259186-110259186 G>A_FVHKKREDGWYKRTLQRNGRTGLFP
10:70451254-70451254 C>T	1.0	3919	MELANOMA	-	-	-	1	TET1	NM_030625,p.P2032S|uc001jok.4,p.P2032S|ENST00000373644,p.P2032S	protein_coding	uc001jok.4	nonsynonymous SNV	exon12	c.C6094T	p.P2032S	IECARRELHATTPVEHPNRNHPTRL	IECARRELHATTSVEHPNRNHPTRL	5.0	10.0	unscreened	-	3919_10:70451254-70451254 C>T_IECARRELHATTSVEHPNRNHPTRL
2:210574752-210574752 C>A	1.0	3919	MELANOMA	-	-	-	-	MAP2	uc002vdg.1,p.T260N|uc002vdd.1,p.T317N|ENST00000447185,p.T1612N|NM_001039538,p.T317N|ENST00000361559,p.T260N|uc002vdh.1,p.T317N|NM_002374,p.T1616N|ENST00000199940,p.T317N|ENST00000392194,p.T260N|uc002vdf.1,p.T260N|ENST00000360351,p.T1616N|NM_031847,p.T260N|uc002vde.1,p.T1616N|uc002vdi.1,p.T1612N|NM_031845,p.T260N	retained_intron, protein_coding, processed_transcript	uc002vdi.1	nonsynonymous SNV	exon9	c.C4835A	p.T1612N	GTPPSYSSRTPGTPGTPSYPRTPHT	GTPPSYSSRTPGNPGTPSYPRTPHT	9.0	1.0	unscreened	-	3919_2:210574752-210574752 C>A_GTPPSYSSRTPGNPGTPSYPRTPHT
16:28493442-28493442 G>A	1.0	3919	MELANOMA	-	-	-	-	CLN3	uc002dpm.3,p.A293V|ENST00000565316,p.A330V|ENST00000357857,p.A293V|ENST00000357806,p.A248V|ENST00000569430,p.A347V|ENST00000355477,p.A299V|ENST00000568224,p.A269V|uc002dpo.3,p.A347V|uc010vcv.2,p.A323V|ENST00000535392,p.A269V|uc002dpu.1,p.A245V|uc002dpq.1,p.A299V|ENST00000333496,p.A323V|uc002dpp.3,p.A347V|NM_001286110,p.A293V|uc002dps.1,p.A220V|uc002dpt.1,p.A247V|ENST00000354630,p.A330V|ENST00000359984,p.A347V|uc010bye.1,p.A330V|NM_001286105,p.A247V|ENST00000360019,p.A347V|uc010vcu.2,p.A247V|uc021tfs.1,p.A194V|uc002dpl.3,p.A269V|NM_001286109,p.A269V|NM_001042432,p.A347V|NM_000086,p.A347V|NM_001286104,p.A323V|ENST00000395653,p.A247V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tfs.1	nonsynonymous SNV	exon8	c.C581T	p.A194V	SSLRCCRIRFTWALALLQCLNLVFL	SSLRCCRIRFTWVLALLQCLNLVFL	7.0	5.0	-	-	3919_16:28493442-28493442 G>A_SSLRCCRIRFTWVLALLQCLNLVFL
16:28493442-28493442 G>A	1.0	3919	MELANOMA	-	-	-	-	CLN3	ENST00000569030,p.A237V|ENST00000357076,p.A237V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000569030	nonsynonymous SNV	exon10	c.C710T	p.A237V	SSLRCCRIRFTWALALLQMESRSVA	SSLRCCRIRFTWVLALLQMESRSVA	7.0	5.0	unscreened	-	3919_16:28493442-28493442 G>A_SSLRCCRIRFTWVLALLQMESRSVA
6:107392018-107392018 G>A	1.0	3919	MELANOMA	-	-	-	-	BEND3	ENST00000369042,p.S126F|uc003prs.2,p.S126F|ENST00000429433,p.S126F|NM_001080450,p.S126F	protein_coding	uc003prs.2	nonsynonymous SNV	exon5	c.C377T	p.S126F	GEEEPCNDATTPSYKKPLYGISHKI	GEEEPCNDATTPFYKKPLYGISHKI	5.0	7.0	unscreened	-	3919_6:107392018-107392018 G>A_GEEEPCNDATTPFYKKPLYGISHKI
3:142408609-142408609 C>G	1.0	3919	MELANOMA	-	-	-	-	PLS1	uc003euz.3,p.C377W|NM_002670,p.C377W|NM_001145319,p.C377W|uc003eva.3,p.C377W|ENST00000497002,p.C377W|ENST00000337777,p.C377W|uc010huv.3,p.C377W|NM_001172312,p.C377W|ENST00000457734,p.C377W	retained_intron, protein_coding	uc010huv.3	nonsynonymous SNV	exon10	c.C1131G	p.C377W	LAFVANLFNTYPCLHKPNNNDIDMN	LAFVANLFNTYPWLHKPNNNDIDMN	4.0	2.0	unscreened	-	3919_3:142408609-142408609 C>G_LAFVANLFNTYPWLHKPNNNDIDMN
6:33177533-33177533 C>T	1.0	3919	MELANOMA	-	-	-	-	RING1	uc003odl.3,p.S41F|ENST00000374656,p.S70F|NM_002931,p.S70F|uc011dqx.1,p.S70F|uc003odk.3,p.S70F	protein_coding, processed_transcript	uc011dqx.1	nonsynonymous SNV	exon3	c.C209T	p.S70F	TMTTKECLHRFCSDCIVTALRSGNK	TMTTKECLHRFCFDCIVTALRSGNK	7.0	4.0	-	-	3919_6:33177533-33177533 C>T_TMTTKECLHRFCFDCIVTALRSGNK
5:137721984-137721984 C>T	1.0	3919	MELANOMA	-	-	-	-	KDM3B	uc010jew.1,p.R8C|ENST00000394866,p.R8C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jew.1	nonsynonymous SNV	exon7	c.C22T	p.R8C	MGAMEINRNIRFATYTKENG	MGAMEINCNIRFATYTKENG	8.0	3.0	unscreened	-	3919_5:137721984-137721984 C>T_MGAMEINCNIRFATYTKENG
21:26965143-26965143 G>C	1.0	3919	MELANOMA	-	-	-	-	MRPL39	NM_080794,p.S301C|NM_017446,p.S301C|ENST00000307301,p.S301C|uc002yln.3,p.S301C|ENST00000352957,p.S301C|uc002ylo.3,p.S301C	protein_coding	uc002ylo.3	nonsynonymous SNV	exon8	c.C902G	p.S301C	TQPSLIRRFQGVSLPVHLRAHFTIW	TQPSLIRRFQGVCLPVHLRAHFTIW	6.0	5.0	unscreened	-	3919_21:26965143-26965143 G>C_TQPSLIRRFQGVCLPVHLRAHFTIW
19:49414456-49414456 C>T	1.0	3919	MELANOMA	-	-	-	-	NUCB1	ENST00000263273,p.P143S|uc002plb.4,p.P143S|NM_006184,p.P143S|uc002pla.3,p.P143S|ENST00000407032,p.P143S|ENST00000405315,p.P143S|ENST00000452087,p.P143S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002plb.4	nonsynonymous SNV	exon5	c.C427T	p.P143S	HLNLLKQFEHLDPQNQHTFEARDLE	HLNLLKQFEHLDSQNQHTFEARDLE	10.0	3.0	-	-	3919_19:49414456-49414456 C>T_HLNLLKQFEHLDSQNQHTFEARDLE
3:184290868-184290868 C>T	1.0	3919	MELANOMA	-	-	-	-	EPHB3	uc003foz.3,p.L254F|ENST00000330394,p.L254F|NM_004443,p.L254F	retained_intron, protein_coding	uc003foz.3	nonsynonymous SNV	exon3	c.C760T	p.L254F	IPNAVEVSVPLKLYCNGDGEWMVPV	IPNAVEVSVPLKFYCNGDGEWMVPV	6.0	8.0	unscreened	-	3919_3:184290868-184290868 C>T_IPNAVEVSVPLKFYCNGDGEWMVPV
11:34144006-34144006 G>T	1.0	3919	MELANOMA	-	-	-	-	NAT10	uc001mvk.3,p.A261S|ENST00000257829,p.A261S|NM_001144030,p.A189S|NM_024662,p.A261S|ENST00000531159,p.A189S|uc010ren.2,p.A189S	protein_coding, processed_transcript	uc010ren.2	nonsynonymous SNV	exon7	c.G565T	p.A189S	GVLVDCCKTLDQAKAVLKFIEGISE	GVLVDCCKTLDQSKAVLKFIEGISE	9.0	3.0	-	-	3919_11:34144006-34144006 G>T_GVLVDCCKTLDQSKAVLKFIEGISE
5:153755942-153755942 C>G	1.0	3919	MELANOMA	-	-	-	-	GALNT10	ENST00000297107,p.A225G|uc003lvh.3,p.A225G|NM_198321,p.A225G|uc003lvg.1,p.A225G|ENST00000425427,p.A225G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003lvh.3	nonsynonymous SNV	exon5	c.C674G	p.A225G	KREGLIRTRMLGASVATGDVITFLD	KREGLIRTRMLGGSVATGDVITFLD	6.0	3.0	-	-	3919_5:153755942-153755942 C>G_KREGLIRTRMLGGSVATGDVITFLD
15:28370252-28370252 G>A	1.0	3919	MELANOMA	-	-	-	-	HERC2	NM_004667,p.A4297V|ENST00000261609,p.A4297V|uc001zbj.4,p.A4297V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zbj.4	nonsynonymous SNV	exon84	c.C12890T	p.A4297V	TTNAIQRPRLVAALQGKKVNRVACG	TTNAIQRPRLVAVLQGKKVNRVACG	9.0	10.0	-	-	3919_15:28370252-28370252 G>A_TTNAIQRPRLVAVLQGKKVNRVACG
6:130363876-130363876 A>G	1.0	3919	MELANOMA	-	-	-	-	L3MBTL3	ENST00000368139,p.Q11R|uc003qbt.3,p.Q11R|ENST00000529410,p.Q11R|ENST00000368136,p.Q11R|ENST00000526019,p.Q11R|ENST00000361794,p.Q11R|NM_032438,p.Q11R|ENST00000526087,p.Q11R|ENST00000528385,p.Q11R|NM_001007102,p.Q11R|ENST00000533560,p.Q11R|uc003qbu.3,p.Q11R	retained_intron, protein_coding	uc003qbu.3	nonsynonymous SNV	exon3	c.A32G	p.Q11R	MTESASSTSGQEFDVFSVMDWKD	MTESASSTSGREFDVFSVMDWKD	1.0	3.0	-	-	3919_6:130363876-130363876 A>G_MTESASSTSGREFDVFSVMDWKD
16:5105322-5105322 C>T	0.0	3919	MELANOMA	-	-	-	-	C16orf89	NM_152459,p.D265N|ENST00000422873,p.D303N|ENST00000350219,p.D303N|ENST00000315997,p.D265N|ENST00000472572,p.D265N|uc010bud.3,p.D265N|uc002cyk.4,p.D265N|NM_001098514,p.D265N	retained_intron, protein_coding	uc010bud.3	nonsynonymous SNV	exon6	c.G793A	p.D265N	ENIMFCGMGGFSDFYKLRWLEAILS	ENIMFCGMGGFSNFYKLRWLEAILS	6.0	4.0	unscreened	-	3919_16:5105322-5105322 C>T_ENIMFCGMGGFSNFYKLRWLEAILS
16:5105322-5105322 C>T	0.0	3919	MELANOMA	-	-	-	-	C16orf89	ENST00000474471,p.D297N	retained_intron, protein_coding	ENST00000474471	nonsynonymous SNV	exon7	c.G889A	p.D297N	GPVMFCGMGGFSDFYKLRWLEAILS	GPVMFCGMGGFSNFYKLRWLEAILS	6.0	4.0	unscreened	-	3919_16:5105322-5105322 C>T_GPVMFCGMGGFSNFYKLRWLEAILS
16:30750372-30750372 A>T	1.0	3919	MELANOMA	-	-	-	-	SRCAP	ENST00000380361,p.K2827I|uc002dze.1,p.K3004I|ENST00000262518,p.K3004I|NM_006662,p.K3004I|ENST00000344771,p.K2846I|ENST00000395059,p.K2942I|uc002dzg.1,p.K2799I	retained_intron, protein_coding, nonsense_mediated_decay	uc002dzg.1	nonsynonymous SNV	exon29	c.A8396T	p.K2799I	TVTTVTISTSPPKRKRGRPPKNPPS	TVTTVTISTSPPIRKRGRPPKNPPS	9.0	2.0	-	-	3919_16:30750372-30750372 A>T_TVTTVTISTSPPIRKRGRPPKNPPS
6:142704926-142704926 C>T	1.0	3919	MELANOMA	-	-	-	-	GPR126	uc010khe.3,p.P390S|NM_020455,p.P390S|ENST00000230173,p.P390S|ENST00000367609,p.P390S|uc010khc.3,p.P390S|NM_198569,p.P390S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010khe.3	nonsynonymous SNV	exon6	c.C1168T	p.P390S	CQATVNSPSTTPPTVTTNMPVTNRI	CQATVNSPSTTPSTVTTNMPVTNRI	10.0	6.0	unscreened	-	3919_6:142704926-142704926 C>T_CQATVNSPSTTPSTVTTNMPVTNRI
1:114523784-114523784 T>A	1.0	3919	MELANOMA	-	-	-	-	OLFML3	NM_020190,p.F205Y|ENST00000320334,p.F205Y|NM_001286353,p.F144Y|uc001ees.1,p.F185Y|NM_001286352,p.F185Y|ENST00000369551,p.F185Y|uc001eer.1,p.F205Y|uc001eet.1,p.F61Y|ENST00000393300,p.F185Y	protein_coding, processed_transcript	uc001eet.1	nonsynonymous SNV	exon2	c.T182A	p.F61Y	MAARKASRVRVPFPWVGTGQLVYGG	MAARKASRVRVPYPWVGTGQLVYGG	4.0	6.0	-	-	3919_1:114523784-114523784 T>A_MAARKASRVRVPYPWVGTGQLVYGG
1:15874816-15874816 G>A	1.0	3919	MELANOMA	-	-	-	-	DNAJC16	ENST00000375847,p.G306S|ENST00000475133,p.G306S|ENST00000375838,p.G306S|uc001awr.1,p.G306S|NM_015291,p.G306S|uc001aws.3,p.G306S|ENST00000375849,p.G306S	protein_coding, processed_transcript, nonsense_mediated_decay	uc001aws.3	nonsynonymous SNV	exon7	c.G916A	p.G306S	YKDYLSFGYVYVGLRGTEEMTRRYN	YKDYLSFGYVYVSLRGTEEMTRRYN	5.0	3.0	-	-	3919_1:15874816-15874816 G>A_YKDYLSFGYVYVSLRGTEEMTRRYN
3:52005509-52005509 C>G	1.0	3919	MELANOMA	-	-	-	-	ABHD14B	uc003dcm.3,p.A60P|ENST00000525795,p.A60P|uc011bdy.2,p.A60P|uc011bdz.1,p.A60P|uc003dcn.3,p.A60P|NM_032750,p.A60P|ENST00000483233,p.A60P|ENST00000461108,p.A60P|ENST00000361143,p.A60P|ENST00000395008,p.A60P|ENST00000315877,p.A60P|NM_001146314,p.A60P	retained_intron, protein_coding, processed_transcript	uc011bdz.1	nonsynonymous SNV	exon2	c.G178C	p.A60P	WQNLGTLHRLAQAGYRAVAIDLPGL	WQNLGTLHRLAQPGYRAVAIDLPGL	9.0	3.0	-	-	3919_3:52005509-52005509 C>G_WQNLGTLHRLAQPGYRAVAIDLPGL
16:10996020-10996020 G>A	1.0	3919	MELANOMA	-	-	-	1	CIITA	NM_001286402,p.E204K|uc010bup.1,p.E203K|uc002daj.4,p.E204K|uc002dai.4,p.E203K|uc002dag.2,p.E203K|ENST00000324288,p.E203K|NM_000246,p.E203K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bup.1	nonsynonymous SNV	exon7	c.G607A	p.E203K	FNQEPASGQMRLEKTDQIPMPFSSS	FNQEPASGQMRLKKTDQIPMPFSSS	10.0	4.0	-	-	3919_16:10996020-10996020 G>A_FNQEPASGQMRLKKTDQIPMPFSSS
10:49386140-49386140 A>-	0.0	3919	MELANOMA	-	-	-	-	FRMPD2	NM_001018071,p.Y949fs|uc001jgi.3,p.Y949fs|ENST00000374201,p.Y949fs|uc001jgj.3,p.Y918fs|uc001jgh.3,p.Y917fs|ENST00000407470,p.Y917fs|ENST00000305531,p.Y924fs	retained_intron, protein_coding, processed_transcript	uc001jgj.3	frameshift deletion	exon21	c.2752delT	p.Y918fs	PPSPPEISAGEIYFVELVKEDGTLG	PPSPPEISAGEITLWNWLKKMGHLDSV	1.0	1.0	unscreened	-	3919_10:49386140-49386140 A>-_PPSPPEISAGEITLWNWLKKMGHLDSV
3:178928022-178928022 G>A	1.0	3919	MELANOMA	-	-	-	1	PIK3CA	ENST00000263967,p.D434N|uc003fjk.3,p.D434N|NM_006218,p.D434N	retained_intron, protein_coding	uc003fjk.3	nonsynonymous SNV	exon8	c.G1300A	p.D434N	LAWGNINLFDYTDTLVSGKMALNLW	LAWGNINLFDYTNTLVSGKMALNLW	8.0	8.0	-	-	3919_3:178928022-178928022 G>A_LAWGNINLFDYTNTLVSGKMALNLW
3:100585758-100585758 G>A	1.0	3919	MELANOMA	-	-	-	-	ABI3BP	uc003dup.4,p.P318L|ENST00000284322,p.P325L|uc003dun.3,p.P325L|NM_015429,p.P325L|ENST00000471714,p.P325L|ENST00000495063,p.P325L|uc003duo.2,p.P318L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003dup.4	nonsynonymous SNV	exon10	c.C953T	p.P318L	NETLALPAESKTPEVEKISARPTTV	NETLALPAESKTLEVEKISARPTTV	6.0	7.0	-	-	3919_3:100585758-100585758 G>A_NETLALPAESKTLEVEKISARPTTV
9:79118378-79118378 G>A	1.0	3919	MELANOMA	-	-	-	-	GCNT1	ENST00000536223,p.G361S|ENST00000444201,p.G361S|uc010mpg.3,p.G361S|uc022bif.1,p.G361S|uc004akf.4,p.G361S|NM_001097633,p.G361S|ENST00000442371,p.G361S|NM_001097636,p.G361S|uc010mph.3,p.G361S|uc010mpf.3,p.G361S|NM_001490,p.G361S|ENST00000376730,p.G361S|uc004akh.4,p.G361S|NM_001097635,p.G361S|NM_001097634,p.G361S|uc010mpi.3,p.G361S	protein_coding, processed_transcript	uc022bif.1	nonsynonymous SNV	exon1	c.G1081A	p.G361S	AVARFVKWQYFEGDVSKGAPYPPCD	AVARFVKWQYFESDVSKGAPYPPCD	7.0	6.0	-	-	3919_9:79118378-79118378 G>A_AVARFVKWQYFESDVSKGAPYPPCD
4:41686455-41686455 C>T	1.0	3919	MELANOMA	-	-	-	-	LIMCH1	uc011byu.2,p.S745L|NM_001112719,p.S757L|ENST00000511496,p.S752L|uc011byw.2,p.S211L|ENST00000313860,p.S912L|ENST00000396595,p.S757L|uc003gvv.4,p.S912L|ENST00000512632,p.S835L|ENST00000509277,p.S745L|uc003gwa.4,p.S752L|NM_001289124,p.S765L|uc003gwc.4,p.S757L|ENST00000503057,p.S1296L|NM_001112717,p.S912L|uc003gvu.4,p.S912L|uc003gvx.4,p.S924L|ENST00000508501,p.S911L|uc003gwd.4,p.S745L|uc003gvz.4,p.S1296L|ENST00000512946,p.S912L|uc011byv.2,p.S662L|ENST00000514096,p.S752L|uc003gvw.4,p.S911L|ENST00000513024,p.S765L|uc003gwe.4,p.S835L|NM_001112720,p.S745L|NM_014988,p.S912L|uc003gvy.4,p.S740L|ENST00000512820,p.S924L|ENST00000381753,p.S745L|NM_001289122,p.S924L|NM_001112718,p.S911L	protein_coding, processed_transcript	uc011byw.2	nonsynonymous SNV	exon8	c.C632T	p.S211L	TEGALAHSGNPVSKGVHEDHQLDTE	TEGALAHSGNPVLKGVHEDHQLDTE	9.0	9.0	-	-	3919_4:41686455-41686455 C>T_TEGALAHSGNPVLKGVHEDHQLDTE
1:155171277-155171277 G>T	1.0	3919	MELANOMA	-	-	-	-	THBS3	uc009wqi.3,p.S411R|NM_001252608,p.S300R|ENST00000428962,p.S270R|ENST00000457183,p.S300R|uc001fix.3,p.S420R|uc010pfu.2,p.S300R|NM_001252607,p.S411R|ENST00000368378,p.S420R|NM_007112,p.S420R	protein_coding, processed_transcript	uc010pfu.2	nonsynonymous SNV	exon9	c.C900A	p.S300R	QSQGCLPARTCHSPAHSPCHIHAHC	QSQGCLPARTCHRPAHSPCHIHAHC	8.0	1.0	-	-	3919_1:155171277-155171277 G>T_QSQGCLPARTCHRPAHSPCHIHAHC
7:93519909-93519909 G>C	1.0	3919	MELANOMA	-	-	-	-	TFPI2	NM_001271004,p.P28A|ENST00000222543,p.P28A|uc003umz.2,p.P28A|ENST00000545378,p.P28A|NM_006528,p.P28A|uc003umy.2,p.P28A	retained_intron, protein_coding	uc003umz.2	nonsynonymous SNV	exon1	c.C82G	p.P28A	LTEAALGDAAQEPTGNNAEICLLPL	LTEAALGDAAQEATGNNAEICLLPL	9.0	2.0	unscreened	-	3919_7:93519909-93519909 G>C_LTEAALGDAAQEATGNNAEICLLPL
7:2108866-2108866 G>A	1.0	3919	MELANOMA	-	-	-	-	MAD1L1	uc003sle.1,p.A123V|NM_001013836,p.A394V|uc003slh.1,p.A394V|uc010ksh.1,p.A394V|ENST00000406869,p.A394V|ENST00000402746,p.A302V|NM_001013837,p.A394V|ENST00000399654,p.A394V|ENST00000265854,p.A394V|uc003sli.1,p.A302V|uc010ksi.1,p.A347V|uc003slg.1,p.A394V|uc003slf.1,p.A394V|NM_003550,p.A394V|ENST00000438959,p.A61V|uc010ksj.3,p.A394V	protein_coding, processed_transcript	uc010ksj.3	nonsynonymous SNV	exon12	c.C1181T	p.A394V	EERKKRETHEALARRLQKRVLLLTK	EERKKRETHEALVRRLQKRVLLLTK	8.0	6.0	-	-	3919_7:2108866-2108866 G>A_EERKKRETHEALVRRLQKRVLLLTK
16:58580402-58580402 A>C	1.0	3919	MELANOMA	-	-	-	-	CNOT1	uc002enx.4,p.L1277V|ENST00000569240,p.L1272V|NM_206999,p.L1277V|ENST00000317147,p.L1277V|uc010vik.3,p.L234V|ENST00000441024,p.L1277V|ENST00000245138,p.L128V|NM_016284,p.L1277V|ENST00000567188,p.L1272V|uc002enu.5,p.L1272V|uc002env.4,p.L1277V|NM_001265612,p.L1272V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vik.3	nonsynonymous SNV	exon6	c.T700G	p.L234V	VLAELHQEHDLKLNLKFEIEVLCKN	VLAELHQEHDLKVNLKFEIEVLCKN	9.0	8.0	-	-	3919_16:58580402-58580402 A>C_VLAELHQEHDLKVNLKFEIEVLCKN
19:11833375-11833375 C>T	1.0	3919	MELANOMA	-	-	-	-	ZNF823	NM_001080493,p.R325K|ENST00000431998,p.R281K|NM_017507,p.R281K|ENST00000545749,p.R143K|uc002msm.2,p.R325K|NM_001297610,p.R143K|ENST00000341191,p.R325K|uc010xmd.1,p.R143K|uc010dyi.1,p.R281K	protein_coding	uc010xmd.1	nonsynonymous SNV	exon3	c.G428A	p.R143K	FYHHTSFRRHMIRHTGDGPHKCKIC	FYHHTSFRRHMIKHTGDGPHKCKIC	3.0	2.0	-	-	3919_19:11833375-11833375 C>T_FYHHTSFRRHMIKHTGDGPHKCKIC
5:137721984-137721984 C>T	1.0	3919	MELANOMA	-	-	-	-	KDM3B	uc003lcy.1,p.R352C|NM_016604,p.R352C|ENST00000314358,p.R352C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003lcy.1	nonsynonymous SNV	exon7	c.C1054T	p.R352C	KQPPSTFVPQINRNIRFATYTKENG	KQPPSTFVPQINCNIRFATYTKENG	8.0	3.0	unscreened	-	3919_5:137721984-137721984 C>T_KQPPSTFVPQINCNIRFATYTKENG
5:38506168-38506168 C>T	1.0	3919	MELANOMA	-	-	-	1	LIFR	NM_002310,p.G377E|NM_001127671,p.G377E|uc003jli.2,p.G377E|ENST00000263409,p.G377E|ENST00000453190,p.G377E|uc010ive.1,p.G377E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ive.1	nonsynonymous SNV	exon9	c.G1130A	p.G377E	RATSYTLVESFSGKYVRLKRAEAPT	RATSYTLVESFSEKYVRLKRAEAPT	3.0	10.0	-	-	3919_5:38506168-38506168 C>T_RATSYTLVESFSEKYVRLKRAEAPT
17:34199413-34199413 G>A	0.0	3919	MELANOMA	-	-	-	-	CCL5	ENST00000366113,p.R82W|ENST00000293272,p.R82W|NM_002985,p.R82W|uc002hkf.3,p.R82W	protein_coding	uc002hkf.3	nonsynonymous SNV	exon3	c.C244T	p.R82W	RQVCANPEKKWVREYINSLEMS	RQVCANPEKKWVWEYINSLEMS	7.0	10.0	-	-	3919_17:34199413-34199413 G>A_RQVCANPEKKWVWEYINSLEMS
10:33475386-33475386 T>G	1.0	3919	MELANOMA	-	-	-	-	NRP1	uc001iwx.4,p.D698A|ENST00000265371,p.D698A|NM_003873,p.D698A|uc001iww.4,p.D510A|uc001iwv.4,p.D698A|ENST00000374875,p.D510A|uc001iwy.4,p.D691A|ENST00000395995,p.D698A|NM_001244973,p.D691A|ENST00000374867,p.D698A	protein_coding, processed_transcript	uc001iwy.4	nonsynonymous SNV	exon14	c.A2072C	p.D691A	HTGDGNFIYSQADENQKGKVARLVS	HTGDGNFIYSQAAENQKGKVARLVS	9.0	3.0	-	-	3919_10:33475386-33475386 T>G_HTGDGNFIYSQAAENQKGKVARLVS
10:33475386-33475386 T>G	1.0	3919	MELANOMA	-	-	-	-	NRP1	uc009xlz.3,p.D692A|NM_001244972,p.D692A	protein_coding, processed_transcript	uc009xlz.3	nonsynonymous SNV	exon14	c.A2075C	p.D692A	TAGDGNFIYSQADENQKGKVARLVS	TAGDGNFIYSQAAENQKGKVARLVS	9.0	3.0	unscreened	-	3919_10:33475386-33475386 T>G_TAGDGNFIYSQAAENQKGKVARLVS
4:22439945-22439945 A>T	1.0	3919	MELANOMA	-	-	-	-	GPR125	ENST00000502482,p.V340E|NM_145290,p.V340E|ENST00000334304,p.V340E|uc003gqn.1,p.V114E|uc003gqm.2,p.V340E|uc010ieo.2,p.V214E|ENST00000508133,p.V114E|uc003gqo.4,p.V340E|ENST00000514129,p.V76E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ieo.2	nonsynonymous SNV	exon6	c.T641A	p.V214E	TKRGNNTRTVDIVVLESSAQYCPPE	TKRGNNTRTVDIEVLESSAQYCPPE	7.0	2.0	-	-	3919_4:22439945-22439945 A>T_TKRGNNTRTVDIEVLESSAQYCPPE
1:203134555-203134555 G>A	1.0	3919	MELANOMA	-	-	ID=COSM32889;OCCURENCE=1(large_intestine)	-	ADORA1	NM_000674,p.E170K|uc001gze.1,p.E170K|uc010pqg.1,p.E102K|ENST00000337894,p.E170K|uc001gzf.1,p.E170K|ENST00000309502,p.E170K|ENST00000367236,p.E170K|NM_001048230,p.E170K|uc010pqh.1,p.E203K	protein_coding, processed_transcript	uc010pqh.1	nonsynonymous SNV	exon3	c.G607A	p.E203K	ANGSMGEPVIKCEFEKVISMEYMVY	ANGSMGEPVIKCKFEKVISMEYMVY	7.0	7.0	unscreened	-	3919_1:203134555-203134555 G>A_ANGSMGEPVIKCKFEKVISMEYMVY
1:145539396-145539396 C>T	1.0	3919	MELANOMA	0.0005	-	-	-	ITGA10	ENST00000539363,p.P879L|uc001eoa.3,p.P1022L|NM_003637,p.P1022L|ENST00000538811,p.P891L|uc010oyw.2,p.P967L|uc010oyv.2,p.P891L|uc009wiw.3,p.P879L|ENST00000369304,p.P1022L	retained_intron, protein_coding, processed_transcript	uc010oyw.2	nonsynonymous SNV	exon24	c.C2900T	p.P967L	NNASCIVQNLTEPPGPPVHPEELQH	NNASCIVQNLTELPGPPVHPEELQH	10.0	5.0	unscreened	-	3919_1:145539396-145539396 C>T_NNASCIVQNLTELPGPPVHPEELQH
19:23844919-23844919 G>A	1.0	3919	MELANOMA	-	-	-	-	ZNF675	ENST00000359788,p.P75S|NM_138330,p.P75S|uc002nri.3,p.P75S	retained_intron, protein_coding, nonsense_mediated_decay	uc002nri.3	nonsynonymous SNV	exon3	c.C223T	p.P75S	LTVKRHEMVNEPPVMCSHFAQEFWP	LTVKRHEMVNEPSVMCSHFAQEFWP	3.0	4.0	-	-	3919_19:23844919-23844919 G>A_LTVKRHEMVNEPSVMCSHFAQEFWP
3:99513430-99513430 G>A	1.0	3919	MELANOMA	-	-	-	-	COL8A1	ENST00000273342,p.G229R|uc003dtg.2,p.G229R|NM_001850,p.G229R|ENST00000261037,p.G229R|uc003dth.2,p.G229R|NM_020351,p.G229R|uc003dti.1,p.G230R	protein_coding, processed_transcript	uc003dti.1	nonsynonymous SNV	exon3	c.G688A	p.G230R	GQPGPKGDRGPKGLPGPQGLRGPKG	GQPGPKGDRGPKRLPGPQGLRGPKG	8.0	4.0	unscreened	-	3919_3:99513430-99513430 G>A_GQPGPKGDRGPKRLPGPQGLRGPKG
5:140605383-140605383 C>T	1.0	3919	MELANOMA	-	-	-	-	PCDHB14	uc003ljb.3,p.P769L|NM_018934,p.P769L|ENST00000239449,p.P769L|ENST00000515856,p.P616L	protein_coding	uc003ljb.3	nonsynonymous SNV	exon1	c.C2306T	p.P769L	GGSGTNEFKFLKPIIPNFQVHDTGR	GGSGTNEFKFLKLIIPNFQVHDTGR	5.0	9.0	unscreened	-	3919_5:140605383-140605383 C>T_GGSGTNEFKFLKLIIPNFQVHDTGR
1:19500837-19500837 C>A	1.0	3919	MELANOMA	-	-	-	-	UBR4	NM_020765,p.K986N|ENST00000375217,p.K986N|ENST00000375254,p.K986N|uc001bbm.1,p.K197N|uc001bbi.3,p.K986N|ENST00000375267,p.K986N|ENST00000375226,p.K986N	protein_coding, processed_transcript	uc001bbm.1	nonsynonymous SNV	exon5	c.G591T	p.K197N	LAAGSQLDTVRRKENKNVTALEACA	LAAGSQLDTVRRNENKNVTALEACA	10.0	3.0	-	-	3919_1:19500837-19500837 C>A_LAAGSQLDTVRRNENKNVTALEACA
3:43618636-43618636 C>A	1.0	3919	MELANOMA	-	-	-	-	ANO10	ENST00000428472,p.W126L|uc003cmw.3,p.W171L|ENST00000451430,p.W126L|ENST00000414522,p.W237L|NM_001204831,p.W237L|uc011azs.2,p.W237L|uc011azt.2,p.W126L|ENST00000292246,p.W237L|NM_018075,p.W237L|NM_001204832,p.W171L|NM_001204833,p.W126L|ENST00000396091,p.W171L|uc003cmv.3,p.W237L	protein_coding, processed_transcript	uc011azt.2	nonsynonymous SNV	exon4	c.G377T	p.W126L	MAVIGLPYYLFVWEDYDKYVIFASF	MAVIGLPYYLFVLEDYDKYVIFASF	8.0	2.0	-	-	3919_3:43618636-43618636 C>A_MAVIGLPYYLFVLEDYDKYVIFASF
8:8176031-8176031 G>A	1.0	3919	MELANOMA	-	-	-	-	SGK223	ENST00000520004,p.P1285L|uc003wsh.4,p.P1285L|ENST00000330777,p.P1285L	protein_coding	uc003wsh.4	nonsynonymous SNV	exon5	c.C3854T	p.P1285L	LRERDYRQEDLPPLPALSLYSPGLQ	LRERDYRQEDLPLLPALSLYSPGLQ	5.0	8.0	unscreened	-	3919_8:8176031-8176031 G>A_LRERDYRQEDLPLLPALSLYSPGLQ
2:152534460-152534460 T>G	0.0	3919	MELANOMA	-	-	-	-	NEB	ENST00000603639,p.H1166P|uc031rpp.1,p.H1166P|NM_001164508,p.H1166P|uc010fnx.3,p.H1166P|ENST00000409198,p.H1166P|ENST00000427231,p.H1166P|uc021vrb.1,p.H1166P|NM_001271208,p.H1166P|uc021vrd.1,p.H1166P|ENST00000604864,p.H1166P|ENST00000172853,p.H1166P|ENST00000397345,p.H1166P|uc021vrc.1,p.H1166P|uc002txu.3,p.H1166P|NM_001164507,p.H1166P|NM_004543,p.H1166P	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon33	c.A3497C	p.H1166P	DVVSNVNYKHSLHHYTYLPDAMDLE	DVVSNVNYKHSLPHYTYLPDAMDLE	7.0	8.0	unscreened	-	3919_2:152534460-152534460 T>G_DVVSNVNYKHSLPHYTYLPDAMDLE
9:8389318-8389318 C>T	0.0	3919	MELANOMA	-	-	ID=COSM1263470,COSM1263469,COSM1263468,COSM3413763,COSM1263471,COSM3413762;OCCURENCE=1(central_nervous_system),1(oesophagus)	-	PTPRD	uc003zks.3,p.E1027K|NM_001040712,p.E1024K|ENST00000360074,p.E1421K|uc003zkq.3,p.E1027K|ENST00000397606,p.E1027K|NM_130393,p.E1018K|ENST00000540109,p.E1434K|ENST00000397611,p.E1024K|ENST00000486161,p.E1027K|NM_001171025,p.E1027K|uc003zkr.3,p.E1018K|ENST00000356435,p.E1434K|NM_130392,p.E1028K|ENST00000355233,p.E1028K|ENST00000397617,p.E1027K|NM_130391,p.E1027K|uc003zkp.3,p.E1028K|uc003zkk.3,p.E1434K|uc022bdj.1,p.E1024K|ENST00000358503,p.E1412K|NM_002839,p.E1434K|ENST00000537002,p.E1024K|ENST00000381196,p.E1434K	retained_intron, protein_coding, processed_transcript	uc022bdj.1	nonsynonymous SNV	exon21	c.G3070A	p.E1024K	QNAYIATQGSLPETFGDFWRMIWEQ	QNAYIATQGSLPKTFGDFWRMIWEQ	1.0	6.0	unscreened	-	3919_9:8389318-8389318 C>T_QNAYIATQGSLPKTFGDFWRMIWEQ
9:96416825-96416825 T>C	1.0	3919	MELANOMA	-	-	-	-	PHF2	uc004aub.3,p.V307A|NM_005392,p.V307A|ENST00000359246,p.V307A|uc011lug.1,p.V190A	protein_coding	uc011lug.1	nonsynonymous SNV	exon7	c.T569C	p.V190A	FADQVDKCYKCIVKQGQTLFIPSGW	FADQVDKCYKCIAKQGQTLFIPSGW	5.0	4.0	-	-	3919_9:96416825-96416825 T>C_FADQVDKCYKCIAKQGQTLFIPSGW
3:52325070-52325070 A>T	1.0	3919	MELANOMA	-	-	-	-	GLYCTK	NM_145262,p.I158F|ENST00000477382,p.I158F|ENST00000471180,p.I31F|ENST00000461183,p.I74F|uc003ddo.3,p.I158F|ENST00000354773,p.I158F|uc003ddq.2,p.I158F|ENST00000486393,p.I158F|ENST00000473032,p.I158F|uc003ddp.1,p.I158F|ENST00000305690,p.I158F|NM_001144951,p.I158F|ENST00000436784,p.I158F	retained_intron, protein_coding, nonsense_mediated_decay	uc003ddq.2	nonsynonymous SNV	exon3	c.A472T	p.I158F	LPDRDALRAALAIQQLAEGLTADDL	LPDRDALRAALAFQQLAEGLTADDL	5.0	3.0	-	-	3919_3:52325070-52325070 A>T_LPDRDALRAALAFQQLAEGLTADDL
2:179596880-179596880 C>A	0.0	3919	MELANOMA	-	-	-	-	TTN	NM_001256850,p.V5289F|ENST00000589042,p.V5606F|ENST00000591111,p.V5289F|uc002umz.1,p.V1023F|NM_001267550,p.V5606F|uc031rqd.1,p.V5289F|uc031rqc.1,p.V5606F|uc021vsy.2,p.V4362F|ENST00000342992,p.V4362F|NM_133378,p.V4362F	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon55	c.G15865T	p.V5289F	FVESTAVLRLTDVGIEDSGEYMCEA	FVESTAVLRLTDFGIEDSGEYMCEA	5.0	8.0	unscreened	-	3919_2:179596880-179596880 C>A_FVESTAVLRLTDFGIEDSGEYMCEA
10:99625464-99625464 G>A	1.0	3919	MELANOMA	-	-	-	-	CRTAC1	uc001kot.2,p.S385L|ENST00000413387,p.S491L|ENST00000298819,p.S595L	protein_coding, processed_transcript	uc001kot.2	nonsynonymous SNV	exon12	c.C1154T	p.S385L	SPTRMAQPAWGLSASHRAPAPPPPP	SPTRMAQPAWGLLASHRAPAPPPPP	1.0	10.0	unscreened	-	3919_10:99625464-99625464 G>A_SPTRMAQPAWGLLASHRAPAPPPPP
10:103343423-103343423 G>A	1.0	3919	MELANOMA	0.0005	-	-	-	POLL	ENST00000429502,p.P26S|uc001kth.1,p.P28S|ENST00000339310,p.P26S|ENST00000370158,p.P28S	protein_coding, processed_transcript	uc001kth.1	nonsynonymous SNV	exon2	c.C82T	p.P28S	KREKKQKEACSIPGIGKRMAEKIIE	KREKKQKEACSISGIGKRMAEKIIE	7.0	9.0	-	-	3919_10:103343423-103343423 G>A_KREKKQKEACSISGIGKRMAEKIIE
12:50185653-50185653 T>C	1.0	3919	MELANOMA	-	-	-	-	NCKAP5L	uc001rvc.3,p.D529G|NM_001037806,p.D1325G|uc009zlk.2,p.D1325G|ENST00000335999,p.D1325G	retained_intron, protein_coding, processed_transcript	uc009zlk.2	nonsynonymous SNV	exon13	c.A3974G	p.D1325G	LETSESLSDSLYDSLSSCGSQG	LETSESLSDSLYGSLSSCGSQG	7.0	1.0	unscreened	-	3919_12:50185653-50185653 T>C_LETSESLSDSLYGSLSSCGSQG
19:7592463-7592463 C>T	1.0	3919	MELANOMA	-	-	-	-	MCOLN1	uc002mgp.3,p.P97S	retained_intron, protein_coding	uc002mgp.3	nonsynonymous SNV	exon5	c.C289T	p.P97S	PSGPLRPPATISPSWKAAPVTRTSR	PSGPLRPPATISSSWKAAPVTRTSR	8.0	7.0	unscreened	-	3919_19:7592463-7592463 C>T_PSGPLRPPATISSSWKAAPVTRTSR
X:30695558-30695558 A>C	1.0	3919	MELANOMA	-	-	-	-	GK	uc022buj.1,p.Y109S|ENST00000378946,p.Y109S|NM_000167,p.Y109S|NM_001205019,p.Y109S|uc004dci.4,p.Y109S|NM_001128127,p.Y109S|ENST00000378943,p.Y109S|ENST00000378945,p.Y109S|uc004dch.4,p.Y109S|NM_203391,p.Y109S|uc010ngj.3,p.Y109S	protein_coding, nonsense_mediated_decay	uc022buj.1	nonsynonymous SNV	exon4	c.A326C	p.Y109S	TVVWDKITGEPLYNAVVWLDLRTQS	TVVWDKITGEPLSNAVVWLDLRTQS	4.0	4.0	unscreened	-	3919_X:30695558-30695558 A>C_TVVWDKITGEPLSNAVVWLDLRTQS
20:2465021-2465021 G>A	1.0	3919	MELANOMA	-	-	-	-	ZNF343	uc010gao.1,p.P196S|ENST00000278772,p.P196S|NM_001282498,p.P106S|NM_001282495,p.P196S|uc002wge.1,p.P196S|NM_001282496,p.P196S|uc002wgd.1,p.P106S|NM_001282497,p.P237S|NM_024325,p.P196S	protein_coding, processed_transcript	uc010gao.1	nonsynonymous SNV	exon7	c.C586T	p.P196S	TEERETSRAFPSPLQRQSASPRKGN	TEERETSRAFPSSLQRQSASPRKGN	6.0	6.0	-	-	3919_20:2465021-2465021 G>A_TEERETSRAFPSSLQRQSASPRKGN
17:7406505-7406505 A>G	1.0	3919	MELANOMA	-	-	-	-	POLR2A	uc002ghf.4,p.D941G|NM_000937,p.D941G|ENST00000322644,p.D941G	retained_intron, protein_coding	uc002ghf.4	nonsynonymous SNV	exon17	c.A2822G	p.D941G	ALRRTLQEDLVKDVLSNAHIQNELE	ALRRTLQEDLVKGVLSNAHIQNELE	8.0	3.0	-	-	3919_17:7406505-7406505 A>G_ALRRTLQEDLVKGVLSNAHIQNELE
2:109087262-109087262 G>C	1.0	3919	MELANOMA	-	-	-	-	GCC2	ENST00000409896,p.E456Q|NM_181453,p.E493Q|uc002tec.3,p.E493Q|ENST00000309863,p.E493Q|uc002ted.3,p.E392Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ted.3	nonsynonymous SNV	exon5	c.G1174C	p.E392Q	ESLREIMEILQTELGESAGKISQEF	ESLREIMEILQTQLGESAGKISQEF	8.0	7.0	-	-	3919_2:109087262-109087262 G>C_ESLREIMEILQTQLGESAGKISQEF
10:103343423-103343423 G>A	1.0	3919	MELANOMA	0.0005	-	-	-	POLL	uc001ktg.1,p.P303S|NM_013274,p.P303S|ENST00000370162,p.P303S|ENST00000370169,p.P303S|ENST00000426919,p.P314S|ENST00000299206,p.P303S|uc001ktl.3,p.P215S|uc001ktm.3,p.P303S|uc001kti.2,p.P303S|NM_001174084,p.P303S|ENST00000370172,p.P215S|uc001ktj.2,p.P303S	protein_coding, processed_transcript	uc001ktm.3	nonsynonymous SNV	exon6	c.C907T	p.P303S	KPVTSYQEACSIPGIGKRMAEKIIE	KPVTSYQEACSISGIGKRMAEKIIE	7.0	9.0	unscreened	-	3919_10:103343423-103343423 G>A_KPVTSYQEACSISGIGKRMAEKIIE
10:103343423-103343423 G>A	1.0	3919	MELANOMA	0.0005	-	-	-	POLL	uc001ktf.3,p.P211S|ENST00000456836,p.P40S|NM_001174085,p.P211S|ENST00000415897,p.P211S|uc010qqa.2,p.P42S	protein_coding, processed_transcript	uc010qqa.2	nonsynonymous SNV	exon4	c.C124T	p.P42S	SDGEETQEACSIPGIGKRMAEKIIE	SDGEETQEACSISGIGKRMAEKIIE	7.0	9.0	unscreened	-	3919_10:103343423-103343423 G>A_SDGEETQEACSISGIGKRMAEKIIE
4:183713545-183713545 C>T	0.0	3919	MELANOMA	-	-	-	-	TENM3	ENST00000511685,p.S1907F|NM_001080477,p.S1907F|ENST00000406950,p.S1907F|uc003ivd.1,p.S1907F	retained_intron, protein_coding, processed_transcript	uc003ivd.1	nonsynonymous SNV	exon25	c.C5720T	p.S1907F	PSVARHTMQTIRSIGYYRNIYNPPE	PSVARHTMQTIRFIGYYRNIYNPPE	1.0	10.0	-	-	3919_4:183713545-183713545 C>T_PSVARHTMQTIRFIGYYRNIYNPPE
1:170008382-170008382 C>T	1.0	3919	MELANOMA	-	-	-	-	KIFAP3	uc001ggw.2,p.G79R|NM_014970,p.G123R|uc021pep.1,p.G83R|uc010ply.2,p.G45R|NM_001204516,p.G79R|ENST00000367767,p.G79R|NM_001204517,p.G83R|ENST00000367765,p.G83R|ENST00000361580,p.G123R|ENST00000538366,p.G45R|NM_001204514,p.G45R|uc001ggv.3,p.G123R	protein_coding, processed_transcript	uc021pep.1	nonsynonymous SNV	exon4	c.G247A	p.G83R	KSSKPKDPPPFEGMEIDEVANINDM	KSSKPKDPPPFERMEIDEVANINDM	8.0	1.0	-	-	3919_1:170008382-170008382 C>T_KSSKPKDPPPFERMEIDEVANINDM
6:31905203-31905203 G>A	0.0	3919	MELANOMA	-	-	ID=COSM107741;OCCURENCE=1(skin)	-	C2	uc011dor.2,p.E213K|NM_001282457,p.E120K|uc003nyc.2,p.E153K|NM_001178063,p.E152K|uc003nyf.3,p.E366K|ENST00000299367,p.E366K|uc010jtk.3,p.E234K|NM_001282458,p.E337K|uc011dop.2,p.E152K|uc011doq.2,p.E337K|uc011doo.2,p.E120K|NM_000063,p.E366K|ENST00000452323,p.E152K|ENST00000456570,p.E213K|ENST00000556679,p.E213K|NM_001145903,p.E234K|uc003nyh.2,p.E17K|ENST00000477310,p.E184K|ENST00000469372,p.E120K|ENST00000442278,p.E234K|ENST00000497706,p.E153K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dor.2	nonsynonymous SNV	exon5	c.G637A	p.E213K	MRLLGMETMAWQEIRHAIILLTDGK	MRLLGMETMAWQKIRHAIILLTDGK	6.0	4.0	unscreened	-	3919_6:31905203-31905203 G>A_MRLLGMETMAWQKIRHAIILLTDGK
1:158064546-158064546 C>T	1.0	3919	MELANOMA	-	-	-	-	KIRREL	ENST00000368173,p.P653L|NM_001286349,p.P537L|ENST00000360089,p.P473L|ENST00000359209,p.P637L|uc009wsq.3,p.P473L|ENST00000392272,p.P534L|ENST00000368172,p.P451L|uc010pib.2,p.P537L|uc001frn.4,p.P637L|ENST00000416935,p.P537L|uc001fro.4,p.P451L|NM_018240,p.P637L	protein_coding	uc010pib.2	nonsynonymous SNV	exon13	c.C1610T	p.P537L	YRAPGPARFDGRPSSRLSHSSGYAQ	YRAPGPARFDGRLSSRLSHSSGYAQ	10.0	7.0	-	-	3919_1:158064546-158064546 C>T_YRAPGPARFDGRLSSRLSHSSGYAQ
10:70509285-70509286 GA>-	1.0	3919	MELANOMA	-	-	ID=COSM1474721;OCCURENCE=1(NS),1(breast)	-	CCAR1	ENST00000540210,p.E321fs|uc010qja.1,p.E306fs|uc001joo.3,p.E321fs|NM_001282959,p.E306fs|ENST00000541012,p.E321fs|uc001jom.1,p.E126fs|NM_001282960,p.E306fs|ENST00000535016,p.E306fs|ENST00000536012,p.E126fs|uc001jon.1,p.E267fs|ENST00000265872,p.E321fs|uc010qiz.1,p.E306fs|ENST00000543719,p.E306fs|ENST00000539539,p.E306fs|NM_018237,p.E321fs|ENST00000543225,p.E295fs|uc009xpx.1,p.E295fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qja.1	frameshift deletion	exon9	c.916_917del	p.E306fs	DQVPNRKDDRSRERERERRRSRERS	DQVPNRKDDRSRERERKT	8.0	1.0	unscreened	-	3919_10:70509285-70509286 GA>-_DQVPNRKDDRSRERERKT
5:38881824-38881824 C>T	0.0	3919	MELANOMA	-	-	-	-	OSMR	NM_001168355,p.P126S|NM_003999,p.P126S|ENST00000502536,p.P126S|uc003jln.2,p.P126S|uc003jlm.2,p.P126S|ENST00000274276,p.P126S	protein_coding, nonsense_mediated_decay	uc003jln.2	nonsynonymous SNV	exon4	c.C376T	p.P126S	IKSLVDDAKFPEPNFWSNWSSWEEV	IKSLVDDAKFPESNFWSNWSSWEEV	7.0	4.0	unscreened	-	3919_5:38881824-38881824 C>T_IKSLVDDAKFPESNFWSNWSSWEEV
2:160876654-160876654 G>A	1.0	3919	MELANOMA	-	-	-	-	PLA2R1	ENST00000283243,p.P472L|ENST00000392771,p.P472L|uc002ube.2,p.P472L|uc010zcp.2,p.P472L|NM_007366,p.P472L|NM_001195641,p.P472L|uc002ubf.3,p.P472L|NM_001007267,p.P472L	protein_coding, processed_transcript	uc010zcp.2	nonsynonymous SNV	exon8	c.C1415T	p.P472L	FTNWHTLEPHIFPNRSQLCVSAEQS	FTNWHTLEPHIFLNRSQLCVSAEQS	3.0	7.0	unscreened	-	3919_2:160876654-160876654 G>A_FTNWHTLEPHIFLNRSQLCVSAEQS
20:57767489-57767489 C>T	0.0	3919	MELANOMA	-	-	-	-	ZNF831	ENST00000371030,p.S472F|NM_178457,p.S472F|uc002yan.3,p.S472F	protein_coding	uc002yan.3	nonsynonymous SNV	exon1	c.C1415T	p.S472F	EPGRRRAPGPVRSTWTPPDKSRPLF	EPGRRRAPGPVRFTWTPPDKSRPLF	1.0	6.0	unscreened	-	3919_20:57767489-57767489 C>T_EPGRRRAPGPVRFTWTPPDKSRPLF
5:145442119-145442119 G>T	0.0	3919	MELANOMA	-	-	-	-	SH3RF2	ENST00000359120,p.G682V|ENST00000511217,p.G682V|uc003lnu.3,p.G173V|uc011dbo.2,p.G139V|uc011dbn.1,p.G173V|uc011dbl.1,p.G682V|uc003lnt.3,p.G682V|NM_152550,p.G682V	retained_intron, protein_coding, processed_transcript	uc011dbo.2	nonsynonymous SNV	exon2	c.G416T	p.G139V	TLKASQPEAASLGPEMTVLFAHRSG	TLKASQPEAASLVPEMTVLFAHRSG	6.0	2.0	unscreened	-	3919_5:145442119-145442119 G>T_TLKASQPEAASLVPEMTVLFAHRSG
16:30750384-30750384 G>T	0.0	3919	MELANOMA	-	-	-	-	SRCAP	NM_006662,p.G3008V|ENST00000380361,p.G2831V|uc002dzg.1,p.G2803V|ENST00000262518,p.G3008V|ENST00000344771,p.G2850V|ENST00000395059,p.G2946V|uc002dze.1,p.G3008V	retained_intron, protein_coding, nonsense_mediated_decay	uc002dzg.1	nonsynonymous SNV	exon29	c.G8408T	p.G2803V	VTISTSPPKRKRGRPPKNPPSPRPS	VTISTSPPKRKRVRPPKNPPSPRPS	9.0	2.0	-	-	3919_16:30750384-30750384 G>T_VTISTSPPKRKRVRPPKNPPSPRPS
13:115090798-115090798 C>T	1.0	3919	MELANOMA	-	-	-	-	CHAMP1	NM_032436,p.P494L|uc010ahb.3,p.P494L|uc021rmx.1,p.P494L|uc010tko.2,p.P494L|NM_001164144,p.P494L|uc001vuv.3,p.P494L|ENST00000361283,p.P494L|NM_001164145,p.P494L	protein_coding, processed_transcript	uc021rmx.1	nonsynonymous SNV	exon1	c.C1481T	p.P494L	SSFFIEPQKPVFPETRKPGPSGPSE	SSFFIEPQKPVFLETRKPGPSGPSE	10.0	7.0	-	-	3919_13:115090798-115090798 C>T_SSFFIEPQKPVFLETRKPGPSGPSE
14:101200538-101200538 C>T	0.0	3919	MELANOMA	-	-	-	-	DLK1	ENST00000341267,p.H153Y|uc001yhu.4,p.H153Y|uc001yhs.4,p.H153Y|ENST00000331224,p.H153Y|NM_003836,p.H153Y	retained_intron, protein_coding	uc001yhu.4	nonsynonymous SNV	exon5	c.C457T	p.H153Y	GGTCVDDEGRASHASCLCPPGFSGN	GGTCVDDEGRASYASCLCPPGFSGN	1.0	10.0	unscreened	-	3919_14:101200538-101200538 C>T_GGTCVDDEGRASYASCLCPPGFSGN
17:7460168-7460168 G>C	0.0	3919	MELANOMA	-	-	-	-	TNFSF12,TNFSF12-TNFSF13	uc002ghi.1,p.Q149H|ENST00000557233,p.Q149H|ENST00000293825,p.Q149H|ENST00000293826,p.Q149H|NM_172089,p.Q149H|uc002ghg.3,p.Q149H|NM_003809,p.Q149H	protein_coding, processed_transcript, nonsense_mediated_decay	uc002ghi.1	nonsynonymous SNV	exon6	c.G447C	p.Q149H	RINSSSPLRYNRQIGEFIVTRAGLY	RINSSSPLRYNRHIGEFIVTRAGLY	8.0	3.0	-	-	3919_17:7460168-7460168 G>C_RINSSSPLRYNRHIGEFIVTRAGLY
7:8095112-8095112 G>A	1.0	3919	MELANOMA	-	-	-	-	GLCCI1	ENST00000414914,p.R107H|ENST00000223145,p.R249H|uc003srk.4,p.R249H|NM_138426,p.R249H|ENST00000430798,p.R137H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003srk.4	nonsynonymous SNV	exon4	c.G746A	p.R249H	LRQQLQRSKQSSRHSKEKDRQSPLH	LRQQLQRSKQSSHHSKEKDRQSPLH	6.0	7.0	-	-	3919_7:8095112-8095112 G>A_LRQQLQRSKQSSHHSKEKDRQSPLH
4:40440616-40440616 C>T	1.0	3919	MELANOMA	-	-	-	-	RBM47	ENST00000381795,p.E99K|uc003gvc.2,p.E99K|ENST00000513473,p.E99K|NM_001098634,p.E99K|uc003gvd.2,p.E99K|uc003gvg.1,p.E99K|ENST00000515053,p.E99K|uc011bys.1,p.E61K|ENST00000514014,p.E61K|ENST00000505414,p.E99K|ENST00000381793,p.E99K|ENST00000511598,p.E99K|ENST00000295971,p.E99K|ENST00000514782,p.E99K|NM_019027,p.E99K|ENST00000507180,p.E99K|ENST00000319592,p.E99K|ENST00000510871,p.E99K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bys.1	nonsynonymous SNV	exon3	c.G181A	p.E61K	LVPVFEAVGRIYELRLMMDFDGKNR	LVPVFEAVGRIYKLRLMMDFDGKNR	3.0	10.0	unscreened	-	3919_4:40440616-40440616 C>T_LVPVFEAVGRIYKLRLMMDFDGKNR
16:4943566-4943566 C>T	1.0	3919	MELANOMA	-	-	-	-	PPL	ENST00000590782,p.V488M|uc002cyd.1,p.V490M|ENST00000345988,p.V490M|NM_002705,p.V490M	retained_intron, protein_coding	uc002cyd.1	nonsynonymous SNV	exon13	c.G1468A	p.V490M	AGSKRTLQQRYEVLKTENPGDASDL	AGSKRTLQQRYEMLKTENPGDASDL	4.0	7.0	unscreened	-	3919_16:4943566-4943566 C>T_AGSKRTLQQRYEMLKTENPGDASDL
11:408731-408731 C>T	0.0	3919	MELANOMA	-	-	-	-	SIGIRR	NM_001135053,p.G57E|uc001lpf.2,p.G57E|ENST00000530494,p.G57E|uc001lpd.2,p.G57E|ENST00000397632,p.G57E|ENST00000382520,p.G57E|NM_021805,p.G57E|ENST00000332725,p.G57E|uc001lpe.1,p.G57E|ENST00000531205,p.G57E|uc001lpg.3,p.G57E|NM_001135054,p.G57E|ENST00000431843,p.G57E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001lpg.3	nonsynonymous SNV	exon2	c.G170A	p.G57E	PSVQWLKDGLPLGIGGHYSLHEYSW	PSVQWLKDGLPLEIGGHYSLHEYSW	6.0	10.0	-	-	3919_11:408731-408731 C>T_PSVQWLKDGLPLEIGGHYSLHEYSW
1:52859265-52859265 G>A	1.0	3919	MELANOMA	-	-	-	-	ORC1	uc001ctu.3,p.S311L|uc001ctt.3,p.S311L|NM_001190818,p.S311L|NM_001190819,p.S311L|ENST00000371568,p.S311L|ENST00000371566,p.S311L|uc010oni.2,p.S311L|NM_004153,p.S311L	protein_coding, processed_transcript	uc010oni.2	nonsynonymous SNV	exon6	c.C932T	p.S311L	TGLSYTEDDKKASPEHRIILRTRIA	TGLSYTEDDKKALPEHRIILRTRIA	3.0	10.0	-	-	3919_1:52859265-52859265 G>A_TGLSYTEDDKKALPEHRIILRTRIA
3:99513431-99513431 G>A	1.0	3919	MELANOMA	-	-	-	-	COL8A1	uc003dti.1,p.G230E|uc003dtg.2,p.G229E|ENST00000261037,p.G229E|ENST00000273342,p.G229E|uc003dth.2,p.G229E|NM_001850,p.G229E|NM_020351,p.G229E	protein_coding, processed_transcript	uc003dti.1	nonsynonymous SNV	exon3	c.G689A	p.G230E	GQPGPKGDRGPKGLPGPQGLRGPKG	GQPGPKGDRGPKELPGPQGLRGPKG	8.0	4.0	unscreened	-	3919_3:99513431-99513431 G>A_GQPGPKGDRGPKELPGPQGLRGPKG
10:93250960-93250960 A>C	1.0	3919	MELANOMA	-	-	-	-	HECTD2	NM_182765,p.S399R|uc001khn.1,p.S49R|ENST00000371667,p.S49R|ENST00000446394,p.S403R|uc010qnm.1,p.S403R|NM_001284274,p.S403R|uc001khl.2,p.S399R|ENST00000298068,p.S399R	protein_coding, processed_transcript	uc010qnm.1	nonsynonymous SNV	exon13	c.A1207C	p.S403R	DSEQQMINIARQSLVDKVSRRQRPD	DSEQQMINIARQRLVDKVSRRQRPD	5.0	9.0	-	-	3919_10:93250960-93250960 A>C_DSEQQMINIARQRLVDKVSRRQRPD
19:36498125-36498125 G>C	0.0	3919	MELANOMA	-	-	-	-	SYNE4	uc010een.1,p.L29V|uc002ocq.1,p.L109V|ENST00000490730,p.L109V|uc002ocr.1,p.L109V|NM_001039876,p.L109V|ENST00000324444,p.L109V	retained_intron, protein_coding	uc010een.1	nonsynonymous SNV	exon3	c.C85G	p.L29V	SGLEVLEAEQNSLHLCLLGLGRRLQ	SGLEVLEAEQNSVHLCLLGLGRRLQ	6.0	4.0	unscreened	-	3919_19:36498125-36498125 G>C_SGLEVLEAEQNSVHLCLLGLGRRLQ
17:34199413-34199413 G>A	0.0	3919	MELANOMA	-	-	-	-	CCL5	NM_001278736,p.S109L	protein_coding	NM_001278736	nonsynonymous SNV	exon4	c.C326T	p.S109L	PPSVCQPREEMGSGVHQLFGDELGW	PPSVCQPREEMGLGVHQLFGDELGW	7.0	10.0	unscreened	-	3919_17:34199413-34199413 G>A_PPSVCQPREEMGLGVHQLFGDELGW
2:189931462-189931462 C>T	1.0	3919	MELANOMA	-	-	ID=COSM1530199;OCCURENCE=1(lung)	-	COL5A2	uc002uqk.3,p.G483E|ENST00000374866,p.G483E|NM_000393,p.G483E	retained_intron, protein_coding	uc002uqk.3	nonsynonymous SNV	exon22	c.G1448A	p.G483E	GVPGFKGEAGPKGEPGPHGIQGPIG	GVPGFKGEAGPKEEPGPHGIQGPIG	5.0	1.0	-	-	3919_2:189931462-189931462 C>T_GVPGFKGEAGPKEEPGPHGIQGPIG
22:30212001-30212001 G>A	1.0	3919	MELANOMA	-	-	-	-	ASCC2	ENST00000449900,p.S48F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000449900	nonsynonymous SNV	exon5	c.C143T	p.S48F	VTTVTWMKPCLPSFRSSAISSSTVV	VTTVTWMKPCLPFFRSSAISSSTVV	9.0	4.0	unscreened	-	3919_22:30212001-30212001 G>A_VTTVTWMKPCLPFFRSSAISSSTVV
9:80880359-80880359 C>G	1.0	3919	MELANOMA	-	-	-	-	CEP78	ENST00000376597,p.T567S|ENST00000424347,p.T566S|ENST00000376598,p.T566S|NM_032171,p.T567S|uc004aky.4,p.T567S|ENST00000277082,p.T566S|ENST00000415759,p.T567S|uc010mpp.3,p.T567S|uc004akz.1,p.T54S|uc004akx.2,p.T566S|NM_001098802,p.T567S	retained_intron, protein_coding, processed_transcript	uc010mpp.3	nonsynonymous SNV	exon14	c.C1700G	p.T567S	QSDFQLLGHPQMTSTVSNPPKEEKK	QSDFQLLGHPQMSSTVSNPPKEEKK	8.0	1.0	unscreened	-	3919_9:80880359-80880359 C>G_QSDFQLLGHPQMSSTVSNPPKEEKK
10:46960004-46960004 C>A	0.0	3919	MELANOMA	-	-	-	-	SYT15	ENST00000374325,p.V380L|uc001jdz.2,p.V380L|ENST00000374328,p.V170L|ENST00000503753,p.V380L|NM_181519,p.V380L	protein_coding, processed_transcript	uc001jdz.2	nonsynonymous SNV	exon8	c.G1138T	p.V380L	VQNMEGDKQATTVELFLFHLTSG	VQNMEGDKQATTLELFLFHLTSG	5.0	1.0	unscreened	-	3919_10:46960004-46960004 C>A_VQNMEGDKQATTLELFLFHLTSG
X:47836253-47836253 G>T	1.0	3919	MELANOMA	-	-	-	-	ZNF182	NM_006962,p.F411L|NM_001178099,p.F411L|ENST00000305127,p.F411L|ENST00000376943,p.F392L|uc004dir.3,p.F411L|NM_001007088,p.F392L|uc004dis.3,p.F392L|uc004dit.3,p.F411L|ENST00000396965,p.F411L	protein_coding	uc004dit.3	nonsynonymous SNV	exon7	c.C1233A	p.F411L	EKPHKCTECGKSFNEKSTLIVHQRT	EKPHKCTECGKSLNEKSTLIVHQRT	4.0	9.0	-	-	3919_X:47836253-47836253 G>T_EKPHKCTECGKSLNEKSTLIVHQRT
12:53207583-53207583 ->CACCAAAGCCACCAGTGCCGAAACC	0.0	3919	MELANOMA	-	-	-	-	KRT4	ENST00000551956,p.G87fs|uc031qhk.1,p.G87fs|ENST00000458244,p.G67fs|NM_002272,p.G87fs|ENST00000293774,p.G161fs	retained_intron, protein_coding, nonsense_mediated_decay	uc031qhk.1	frameshift insertion	exon1	c.259_260insGGTTTCGGCACTGGTGGCTTTGGTG	p.G87fs	GGAGGFGTGGFGGGFGGSFSGKGGP	GGAGGFGTGGFGGFRHWWLWWWIWGLLQW	1.0	2.0	unscreened	-	3919_12:53207583-53207583 ->CACCAAAGCCACCAGTGCCGAAACC_GGAGGFGTGGFGGFRHWWLWWWIWGLLQW
19:9070206-9070206 G>A	0.0	3919	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.S5747F|uc002mkp.3,p.S5747F|NM_024690,p.S5747F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C17240T	p.S5747F	SVPADSHTSKATSPMGITFAMGDTS	SVPADSHTSKATFPMGITFAMGDTS	1.0	5.0	unscreened	-	3919_19:9070206-9070206 G>A_SVPADSHTSKATFPMGITFAMGDTS
7:43351591-43351591 C>T	0.0	3919	MELANOMA	-	-	-	-	HECW1	NM_001287059,p.S86F|NM_015052,p.S86F|uc011kbi.1,p.S86F|ENST00000453890,p.S86F|ENST00000395891,p.S86F|uc003tid.1,p.S86F|uc003tie.1,p.S118F	protein_coding, processed_transcript	uc011kbi.1	nonsynonymous SNV	exon3	c.C257T	p.S86F	TSDSRSTLMVSSSYYSIGHSQDLVI	TSDSRSTLMVSSFYYSIGHSQDLVI	1.0	6.0	unscreened	-	3919_7:43351591-43351591 C>T_TSDSRSTLMVSSFYYSIGHSQDLVI
4:138452830-138452830 G>A	1.0	3919	MELANOMA	-	-	-	-	PCDH18	uc003ihe.4,p.S138L|NM_019035,p.S138L|ENST00000344876,p.S138L|ENST00000412923,p.S138L|NM_001300828,p.S138L|uc003ihf.4,p.S131L	protein_coding	uc003ihf.4	nonsynonymous SNV	exon1	c.C392T	p.S131L	EVLDINDNSPQFSRSLIPIEISESA	EVLDINDNSPQFLRSLIPIEISESA	1.0	10.0	-	-	3919_4:138452830-138452830 G>A_EVLDINDNSPQFLRSLIPIEISESA
20:62737247-62737247 G>A	0.0	3919	MELANOMA	-	-	-	-	NPBWR2	NM_005286,p.P313L|uc011abt.2,p.P313L|ENST00000369768,p.P313L	protein_coding	uc011abt.2	nonsynonymous SNV	exon1	c.C938T	p.P313L	ITSLSYANSCLNPFLYAFLDDNFRK	ITSLSYANSCLNLFLYAFLDDNFRK	1.0	1.0	unscreened	-	3919_20:62737247-62737247 G>A_ITSLSYANSCLNLFLYAFLDDNFRK
11:59132298-59132298 C>T	0.0	3919	MELANOMA	-	-	ID=COSM689562;OCCURENCE=1(lung),1(endometrium)	-	OR5AN1	NM_001004729,p.R123C|uc010rks.2,p.R123C|ENST00000313940,p.R123C	protein_coding	uc010rks.2	nonsynonymous SNV	exon1	c.C367T	p.R123C	SESCLMTAMAYDRYAAICNPLLYSS	SESCLMTAMAYDCYAAICNPLLYSS	1.0	10.0	unscreened	-	3919_11:59132298-59132298 C>T_SESCLMTAMAYDCYAAICNPLLYSS
5:115350215-115350215 C>T	0.0	3919	MELANOMA	-	-	-	-	AQPEP	ENST00000357872,p.P814L|uc003kro.3,p.P814L|NM_173800,p.P814L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003kro.3	nonsynonymous SNV	exon16	c.C2441T	p.P814L	LSKELFAKWVDHPENEIPYPIKDVV	LSKELFAKWVDHLENEIPYPIKDVV	1.0	10.0	unscreened	-	3919_5:115350215-115350215 C>T_LSKELFAKWVDHLENEIPYPIKDVV
15:93540315-93540315 ->A	1.0	3919	MELANOMA	-	-	-	2	CHD2	uc002bso.1,p.E1242fs|uc002bsp.3,p.E1242fs|ENST00000557381,p.E1242fs|ENST00000394196,p.E1242fs|NM_001271,p.E1242fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bsp.3	frameshift insertion	exon29	c.3725dupA	p.E1242fs	EMLHKSIPVDPEEKKKYCLTCRVKA	EMLHKSIPVDPEEKKKILLNLSCQSCTF	9.0	1.0	unscreened	-	3919_15:93540315-93540315 ->A_EMLHKSIPVDPEEKKKILLNLSCQSCTF
10:101544369-101544369 C>T	0.0	3919	MELANOMA	-	-	-	-	ABCC2	NM_000392,p.S13F|ENST00000370449,p.S13F|ENST00000370434,p.S13F|uc001kqf.2,p.S13F	protein_coding, processed_transcript	uc001kqf.2	nonsynonymous SNV	exon2	c.C38T	p.S13F	MLEKFCNSTFWNSSFLDSPEADLPL	MLEKFCNSTFWNFSFLDSPEADLPL	3.0	1.0	unscreened	-	3919_10:101544369-101544369 C>T_MLEKFCNSTFWNFSFLDSPEADLPL
17:37340361-37340361 G>A	1.0	3919	MELANOMA	-	-	-	-	CACNB1	uc002hrn.3,p.S274F|uc002hro.3,p.S319F|ENST00000394310,p.S274F|ENST00000344140,p.S319F|uc002hrl.1,p.S46F|NM_199247,p.S319F|uc002hrm.2,p.S274F|NM_199248,p.S274F|ENST00000394303,p.S274F|NM_000723,p.S274F	retained_intron, protein_coding, processed_transcript	uc002hro.3	nonsynonymous SNV	exon10	c.C956T	p.S319F	GRISITRVTADISLAKRSVLNNPSK	GRISITRVTADIFLAKRSVLNNPSK	4.0	9.0	-	-	3919_17:37340361-37340361 G>A_GRISITRVTADIFLAKRSVLNNPSK
21:43524024-43524024 G>A	0.0	3919	MELANOMA	-	-	-	-	UMODL1	ENST00000329015,p.P70L|uc002zak.2,p.P70L	 processed_transcript, nonsense_mediated_decay,protein_coding	uc002zak.2	nonsynonymous SNV	exon2	c.C209T	p.P70L	SRLERHDLHSQLPTSVQVRHHWWEG	SRLERHDLHSQLLTSVQVRHHWWEG	1.0	6.0	unscreened	-	3919_21:43524024-43524024 G>A_SRLERHDLHSQLLTSVQVRHHWWEG
8:99961325-99961325 A>T	0.0	3919	MELANOMA	-	-	-	-	OSR2	NM_053001,p.M49L|ENST00000435298,p.M49L|ENST00000297565,p.M49L|ENST00000522510,p.M49L|ENST00000520951,p.M102L|ENST00000518199,p.M49L|ENST00000457907,p.M170L|ENST00000523368,p.M49L|NM_001286841,p.M170L|uc003yir.3,p.M49L|uc011lgx.2,p.M170L|NM_001142462,p.M49L|uc010mbn.2,p.M49L|uc003yiq.3,p.M49L	protein_coding, processed_transcript	uc011lgx.2	nonsynonymous SNV	exon3	c.A508T	p.M170L	LQGLYGLSAVQTMHMNHWTLGYPNV	LQGLYGLSAVQTLHMNHWTLGYPNV	2.0	3.0	-	-	3919_8:99961325-99961325 A>T_LQGLYGLSAVQTLHMNHWTLGYPNV
1:79403855-79403855 G>A	0.0	3919	MELANOMA	-	-	-	-	ELTD1	NM_022159,p.S169L|ENST00000370742,p.S169L|uc001diq.4,p.S169L	protein_coding	uc001diq.4	nonsynonymous SNV	exon5	c.C506T	p.S169L	TDIITYIEILAESSSLLGYKNNTIS	TDIITYIEILAELSSLLGYKNNTIS	2.0	10.0	unscreened	-	3919_1:79403855-79403855 G>A_TDIITYIEILAELSSLLGYKNNTIS
6:132649624-132649624 T>A	1.0	3919	MELANOMA	-	-	-	-	MOXD1	NM_015529,p.Y258F|uc003qde.3,p.Y190F|uc003qdf.3,p.Y258F|ENST00000367963,p.Y258F|ENST00000336749,p.Y190F	protein_coding, processed_transcript	uc003qdf.3	nonsynonymous SNV	exon5	c.A773T	p.Y258F	FNDSVLESGHECYHPNMPDAFLTCE	FNDSVLESGHECFHPNMPDAFLTCE	10.0	2.0	-	-	3919_6:132649624-132649624 T>A_FNDSVLESGHECFHPNMPDAFLTCE
3:142521182-142521182 C>T	1.0	3919	MELANOMA	-	-	-	-	TRPC1	uc003evb.3,p.H551Y|ENST00000476941,p.H585Y|NM_003304,p.H551Y|NM_001251845,p.H585Y|ENST00000273482,p.H551Y|uc003evc.3,p.H585Y|uc011bni.1,p.H104Y	retained_intron, protein_coding, nonsense_mediated_decay	uc011bni.1	nonsynonymous SNV	exon2	c.C310T	p.H104Y	GIFCEQQSNDTFHSFIGTCFALFWY	GIFCEQQSNDTFYSFIGTCFALFWY	4.0	4.0	-	-	3919_3:142521182-142521182 C>T_GIFCEQQSNDTFYSFIGTCFALFWY
20:1352812-1352812 T>C	1.0	3919	MELANOMA	-	-	-	-	FKBP1A	uc002wfb.3,p.H53R|uc002wez.3,p.H53R|NM_001199786,p.H53R	protein_coding, processed_transcript	uc002wfb.3	nonsynonymous SNV	exon3	c.A158G	p.H53R	SRLCLWCHWAPRHHPTTCHSRLRCG	SRLCLWCHWAPRRHPTTCHSRLRCG	10.0	2.0	unscreened	-	3919_20:1352812-1352812 T>C_SRLCLWCHWAPRRHPTTCHSRLRCG
3:3078931-3078931 G>A	0.0	3919	MELANOMA	-	-	-	-	CNTN4	NM_001206955,p.E671K|uc003bpc.3,p.E671K|uc003bpd.1,p.E671K|ENST00000448906,p.E343K|uc003bpf.3,p.E342K|NM_175613,p.E343K|ENST00000397459,p.E343K|ENST00000397461,p.E671K|uc021wsg.1,p.E671K|ENST00000418658,p.E671K|uc003bpe.3,p.E343K|ENST00000427331,p.E671K|NM_175607,p.E671K|ENST00000358480,p.E452K|uc003bpb.1,p.E342K|NM_001206956,p.E342K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wsg.1	nonsynonymous SNV	exon17	c.G2011A	p.E671K	ATVVGLNPWVEYEFRTVAANVIGIG	ATVVGLNPWVEYKFRTVAANVIGIG	1.0	8.0	unscreened	-	3919_3:3078931-3078931 G>A_ATVVGLNPWVEYKFRTVAANVIGIG
5:90052803-90052803 G>A	0.0	3919	MELANOMA	-	-	-	-	GPR98	uc003kju.3,p.G3922E|NM_032119,p.G3922E|uc003kjv.3,p.G1522E|ENST00000405460,p.G3922E	retained_intron, protein_coding, processed_transcript	uc003kjv.3	nonsynonymous SNV	exon25	c.G4565A	p.G1522E	RGIFMFHVTRGAGEVITAYEVPPPL	RGIFMFHVTRGAEEVITAYEVPPPL	1.0	3.0	unscreened	-	3919_5:90052803-90052803 G>A_RGIFMFHVTRGAEEVITAYEVPPPL
19:23844919-23844919 G>A	1.0	3919	MELANOMA	-	-	-	-	ZNF675	ENST00000597074,p.P75S	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000597074	nonsynonymous SNV	exon3	c.C223T	p.P75S	LTVKRHEMVNEPPAVDKHPCTFYEC	LTVKRHEMVNEPSAVDKHPCTFYEC	3.0	4.0	unscreened	-	3919_19:23844919-23844919 G>A_LTVKRHEMVNEPSAVDKHPCTFYEC
11:56344509-56344509 G>A	0.0	3919	MELANOMA	-	-	-	-	OR5M10	NM_001004741,p.S230F|ENST00000526812,p.S230F|uc001niz.1,p.S230F	protein_coding	uc001niz.1	nonsynonymous SNV	exon1	c.C689T	p.S230F	YLFIFAAIFRIRSAEGRHKAFSTCA	YLFIFAAIFRIRFAEGRHKAFSTCA	1.0	10.0	unscreened	-	3919_11:56344509-56344509 G>A_YLFIFAAIFRIRFAEGRHKAFSTCA
9:86421390-86421390 G>A	1.0	3919	MELANOMA	-	-	-	-	GKAP1	uc004amz.3,p.R15C|ENST00000376365,p.R15C|ENST00000388782,p.R15C|NM_001135953,p.R15C|uc004amy.3,p.R15C|NM_025211,p.R15C|ENST00000485742,p.R15C|ENST00000376371,p.R15C	protein_coding, processed_transcript, nonsense_mediated_decay	uc004amz.3	nonsynonymous SNV	exon3	c.C43T	p.R15C	SAVLSSVPTTASRFALLQVDSGSGS	SAVLSSVPTTASCFALLQVDSGSGS	2.0	4.0	unscreened	-	3919_9:86421390-86421390 G>A_SAVLSSVPTTASCFALLQVDSGSGS
3:9786051-9786051 C>T	1.0	3919	MELANOMA	-	-	-	-	BRPF1	uc003bse.3,p.P921S|ENST00000302054,p.P921S|NM_001003694,p.P927S|NM_004634,p.P921S|ENST00000383829,p.P927S|ENST00000424362,p.P920S|ENST00000457855,p.P921S|uc003bsg.3,p.P920S|uc003bsf.3,p.P927S	retained_intron, protein_coding, processed_transcript	uc003bsg.3	nonsynonymous SNV	exon9	c.C2758T	p.P920S	GRPPKNRESQMTPSHGGSPVGPPQL	GRPPKNRESQMTSSHGGSPVGPPQL	7.0	8.0	-	-	3919_3:9786051-9786051 C>T_GRPPKNRESQMTSSHGGSPVGPPQL
5:137721984-137721984 C>T	1.0	3919	MELANOMA	-	-	-	-	KDM3B	ENST00000510866,p.P255L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000510866	nonsynonymous SNV	exon7	c.C764T	p.P255L	GEVDSNGSDGDKPQHSLCHLHQRKR	GEVDSNGSDGDKLQHSLCHLHQRKR	8.0	3.0	unscreened	-	3919_5:137721984-137721984 C>T_GEVDSNGSDGDKLQHSLCHLHQRKR
13:107165068-107165068 T>A	0.0	3919	MELANOMA	-	-	-	-	EFNB2	NM_004093,p.Q72L|ENST00000245323,p.Q72L|uc001vqi.3,p.Q72L	protein_coding	uc001vqi.3	nonsynonymous SNV	exon2	c.A215T	p.Q72L	IICPKVDSKTVGQYEYYKVYMVDKD	IICPKVDSKTVGLYEYYKVYMVDKD	2.0	1.0	unscreened	-	3919_13:107165068-107165068 T>A_IICPKVDSKTVGLYEYYKVYMVDKD
X:47028728-47028728 A>G	1.0	3919	MELANOMA	-	-	-	1	RBM10	NM_001204468,p.D76G|uc004dhi.3,p.D76G	protein_coding, processed_transcript	uc004dhi.3	nonsynonymous SNV	exon3	c.A227G	p.D76G	QDMEYERRGGRGDRTGRYGATDRSQ	QDMEYERRGGRGGRTGRYGATDRSQ	7.0	5.0	unscreened	-	3919_X:47028728-47028728 A>G_QDMEYERRGGRGGRTGRYGATDRSQ
1:167956826-167956826 A>T	1.0	3919	MELANOMA	-	-	-	-	DCAF6	uc001gew.3,p.T178S|NM_001198956,p.T178S|ENST00000432587,p.T147S|NM_001017977,p.T178S|uc001gex.3,p.T178S|uc001gey.3,p.T31S|ENST00000470721,p.T178S|NM_018442,p.T178S|NM_001198957,p.T147S|ENST00000367843,p.T178S|ENST00000367840,p.T178S|uc010plk.2,p.T147S|ENST00000312263,p.T178S|uc001gev.3,p.T178S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010plk.2	nonsynonymous SNV	exon4	c.A439T	p.T147S	VRWFDTRIKTSCTKEDCKDDILINC	VRWFDTRIKTSCSKEDCKDDILINC	10.0	6.0	unscreened	-	3919_1:167956826-167956826 A>T_VRWFDTRIKTSCSKEDCKDDILINC
5:26988402-26988402 G>-	0.0	3919	MELANOMA	-	-	-	-	CDH9	NM_016279,p.T13fs|ENST00000513289,p.T13fs|ENST00000511822,p.T13fs|uc003jgs.1,p.T13fs|uc010iug.3,p.T13fs|ENST00000231021,p.T13fs	retained_intron, protein_coding	uc010iug.3	frameshift deletion	exon2	c.39delC	p.T13fs	MRTYHYIPLFIWTYMFHTVDTILLQ	MRTYHYIPLFIWTICSIQLTPSYYKKNLTVIYQAKR	1.0	3.0	unscreened	-	3919_5:26988402-26988402 G>-_MRTYHYIPLFIWTICSIQLTPSYYKKNLTVIYQAKR
17:10366661-10366661 C>T	0.0	3919	MELANOMA	-	-	-	-	MYH4	ENST00000255381,p.E267K|uc002gmn.3,p.E267K|NM_017533,p.E267K	protein_coding	uc002gmn.3	nonsynonymous SNV	exon9	c.G799A	p.E267K	FGATGKLASADIETYLLEKSRVTFQ	FGATGKLASADIKTYLLEKSRVTFQ	1.0	10.0	unscreened	-	3919_17:10366661-10366661 C>T_FGATGKLASADIKTYLLEKSRVTFQ
11:89537581-89537581 C>T	0.0	3919	MELANOMA	-	-	-	-	TRIM49	ENST00000329758,p.M19I|uc001pdb.3,p.M19I|NM_020358,p.M19I|ENST00000532501,p.M19I	protein_coding	uc001pdb.3	nonsynonymous SNV	exon3	c.G57A	p.M19I	QVFQGELICPLCMNYFIDPVTIDCG	QVFQGELICPLCINYFIDPVTIDCG	1.0	10.0	unscreened	-	3919_11:89537581-89537581 C>T_QVFQGELICPLCINYFIDPVTIDCG
11:4870050-4870050 C>A	0.0	3919	MELANOMA	-	-	ID=COSM1354197;OCCURENCE=1(large_intestine)	-	OR51S1	uc010qyo.2,p.R130L|NM_001004758,p.R130L|ENST00000322101,p.R130L	protein_coding	uc010qyo.2	nonsynonymous SNV	exon1	c.G389T	p.R130L	MESSVLLAMSIDRALAICRPLHYPA	MESSVLLAMSIDLALAICRPLHYPA	1.0	9.0	unscreened	-	3919_11:4870050-4870050 C>A_MESSVLLAMSIDLALAICRPLHYPA
1:247978865-247978865 G>A	0.0	3919	MELANOMA	-	-	-	-	OR14A16	ENST00000357627,p.P56L|NM_001001966,p.P56L|uc001idm.1,p.P56L	protein_coding	uc001idm.1	nonsynonymous SNV	exon1	c.C167T	p.P56L	IMITTLDHHLHTPVYFFLKNLSFLD	IMITTLDHHLHTLVYFFLKNLSFLD	1.0	6.0	unscreened	-	3919_1:247978865-247978865 G>A_IMITTLDHHLHTLVYFFLKNLSFLD
13:111155509-111155509 C>T	1.0	3919	MELANOMA	-	-	-	-	COL4A2	uc001vqx.3,p.P1307S|NM_001846,p.P1307S|ENST00000360467,p.P1307S	protein_coding, processed_transcript	uc001vqx.3	nonsynonymous SNV	exon42	c.C3919T	p.P1307S	RGPPGPPGSAALPGSKGDTGNPGAP	RGPPGPPGSAALSGSKGDTGNPGAP	10.0	7.0	unscreened	-	3919_13:111155509-111155509 C>T_RGPPGPPGSAALSGSKGDTGNPGAP
2:32449781-32449781 C>T	1.0	3919	MELANOMA	-	-	-	-	NLRC4	NM_001199139,p.G946R|ENST00000404025,p.G946R|ENST00000402280,p.G946R|ENST00000360906,p.G946R|uc002roj.2,p.G946R|uc010ezt.2,p.G281R|uc021vfq.1,p.G946R|ENST00000342905,p.G281R|NM_001199138,p.G946R|uc002roi.3,p.G946R|NM_021209,p.G946R	protein_coding	uc021vfq.1	nonsynonymous SNV	exon9	c.G2836A	p.G946R	NPLKNFQQLNLAGNRVSSDGWLAFM	NPLKNFQQLNLARNRVSSDGWLAFM	5.0	5.0	unscreened	-	3919_2:32449781-32449781 C>T_NPLKNFQQLNLARNRVSSDGWLAFM
3:97983688-97983688 C>T	0.0	3919	MELANOMA	-	-	-	-	OR5H6	uc003dsi.1,p.S187F|ENST00000383696,p.S187F|NM_001005479,p.S187F	protein_coding	uc003dsi.1	nonsynonymous SNV	exon1	c.C560T	p.S187F	HEAFSFRLTFCNSNIIQHFYCDIIP	HEAFSFRLTFCNFNIIQHFYCDIIP	1.0	8.0	unscreened	-	3919_3:97983688-97983688 C>T_HEAFSFRLTFCNFNIIQHFYCDIIP
14:33293237-33293237 G>A	1.0	3919	MELANOMA	-	-	-	-	AKAP6	ENST00000280979,p.S2073N|uc001wrq.3,p.S2073N|NM_004274,p.S2073N	retained_intron, protein_coding, processed_transcript	uc001wrq.3	nonsynonymous SNV	exon13	c.G6218A	p.S2073N	KEIIDMASTALKSKSQPENEVAAPT	KEIIDMASTALKNKSQPENEVAAPT	9.0	10.0	unscreened	-	3919_14:33293237-33293237 G>A_KEIIDMASTALKNKSQPENEVAAPT
18:28993527-28993527 G>A	0.0	3919	MELANOMA	-	-	-	-	DSG4	ENST00000308128,p.R1031Q|NM_177986,p.R1031Q|ENST00000359747,p.R1050Q|uc002kwq.2,p.R1031Q|NM_001134453,p.R1050Q|uc002kwr.2,p.R1050Q	protein_coding	uc002kwr.2	nonsynonymous SNV	exon15	c.G3149A	p.R1050Q	STSPMTSRHRVTRYSNIHYTQQ	STSPMTSRHRVTQYSNIHYTQQ	1.0	10.0	unscreened	-	3919_18:28993527-28993527 G>A_STSPMTSRHRVTQYSNIHYTQQ
13:86370178-86370178 A>T	1.0	3919	MELANOMA	-	-	-	-	SLITRK6	ENST00000400286,p.F156I|NM_032229,p.F156I|uc001vll.1,p.F156I|uc021rla.1,p.F156I	protein_coding	uc021rla.1	nonsynonymous SNV	exon1	c.T466A	p.F156I	DNNFITVIEPSAFSKLNRLKVLILN	DNNFITVIEPSAISKLNRLKVLILN	4.0	3.0	unscreened	-	3919_13:86370178-86370178 A>T_DNNFITVIEPSAISKLNRLKVLILN
7:5410720-5410720 G>A	1.0	3919	MELANOMA	-	-	-	-	TNRC18	uc003soi.4,p.P1169S|NM_001080495,p.P1169S|ENST00000399537,p.P1169S|ENST00000430969,p.P1169S	retained_intron, protein_coding	uc003soi.4	nonsynonymous SNV	exon11	c.C3505T	p.P1169S	EVKAEVEDMDEGPTELPPLESPLPL	EVKAEVEDMDEGSTELPPLESPLPL	9.0	6.0	-	-	3919_7:5410720-5410720 G>A_EVKAEVEDMDEGSTELPPLESPLPL
11:428190-428190 C>T	0.0	3919	MELANOMA	-	-	-	-	ANO9	ENST00000332826,p.R411K|uc001lph.2,p.R104K|uc001lpi.2,p.R411K|uc010qvv.1,p.R267K|NM_001012302,p.R411K	retained_intron, protein_coding	uc010qvv.1	nonsynonymous SNV	exon14	c.G800A	p.R267K	CVALKLCDFEMPRTFSERESRFTIR	CVALKLCDFEMPKTFSERESRFTIR	4.0	9.0	unscreened	-	3919_11:428190-428190 C>T_CVALKLCDFEMPKTFSERESRFTIR
X:15552336-15552336 G>A	1.0	3919	MELANOMA	-	-	-	-	BMX	uc004cwy.4,p.D341N|ENST00000342014,p.D341N|NM_203281,p.D341N|ENST00000348343,p.D341N|NM_001721,p.D341N|ENST00000357607,p.D341N|uc004cwx.4,p.D341N|uc004cww.3,p.D341N	protein_coding, processed_transcript	uc004cwy.4	nonsynonymous SNV	exon12	c.G1021A	p.D341N	MYTVSLFSKAVNDKKGTVKHYHVHT	MYTVSLFSKAVNNKKGTVKHYHVHT	6.0	9.0	unscreened	-	3919_X:15552336-15552336 G>A_MYTVSLFSKAVNNKKGTVKHYHVHT
14:88904549-88904549 C>T	1.0	3919	MELANOMA	-	-	-	-	SPATA7	uc001xws.3,p.S464L|ENST00000356583,p.S496L|NM_001040428,p.S496L|uc001xwr.3,p.S496L|NM_018418,p.S528L|ENST00000556553,p.S496L|uc001xwq.3,p.S528L|ENST00000393545,p.S528L|uc001xwt.3,p.S422L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xwt.3	nonsynonymous SNV	exon8	c.C1265T	p.S422L	ETSTLDENHPSISDSLTDRETSVNV	ETSTLDENHPSILDSLTDRETSVNV	7.0	9.0	unscreened	-	3919_14:88904549-88904549 C>T_ETSTLDENHPSILDSLTDRETSVNV
7:140301488-140301488 C>A	1.0	3919	MELANOMA	-	-	-	-	DENND2A	ENST00000537639,p.G237V|ENST00000492720,p.G237V|ENST00000461883,p.G237V|uc003vvw.3,p.G237V|uc010lnj.3,p.G237V|uc010lnk.3,p.G237V|ENST00000496613,p.G237V|NM_015689,p.G237V|ENST00000275884,p.G237V|uc003vvx.3,p.G237V	protein_coding, nonsense_mediated_decay	uc010lnk.3	nonsynonymous SNV	exon3	c.G710T	p.G237V	REPTPELVEDRKGSCRRPWDRSLEN	REPTPELVEDRKVSCRRPWDRSLEN	5.0	1.0	-	-	3919_7:140301488-140301488 C>A_REPTPELVEDRKVSCRRPWDRSLEN
17:10364310-10364310 C>T	0.0	3919	MELANOMA	-	-	-	-	MYH4	ENST00000255381,p.G357E|uc002gmn.3,p.G357E|NM_017533,p.G357E	protein_coding	uc002gmn.3	nonsynonymous SNV	exon12	c.G1070A	p.G357E	TADEKVAIYKLTGAVMHYGNMKFKQ	TADEKVAIYKLTEAVMHYGNMKFKQ	1.0	9.0	unscreened	-	3919_17:10364310-10364310 C>T_TADEKVAIYKLTEAVMHYGNMKFKQ
15:22382608-22382608 ->T	0.0	3919	MELANOMA	-	-	ID=COSM1372011;OCCURENCE=1(large_intestine)	-	OR4N4	NM_001005241,p.I46fs|ENST00000328795,p.I46fs|uc001yuc.1,p.I46fs|uc010tzv.2,p.I46fs	protein_coding	uc010tzv.2	frameshift insertion	exon1	c.137dupT	p.I46fs	FYLIILPGNFLIIFTIRSDPGLTAP	FYLIILPGNFLIIFHHKVRPWAHSPPLFISGQLGLPGCILLLHCGSQDVGGLPL	1.0	8.0	unscreened	-	3919_15:22382608-22382608 ->T_FYLIILPGNFLIIFHHKVRPWAHSPPLFISGQLGLPGCILLLHCGSQDVGGLPL
12:78225447-78225447 C>T	0.0	3919	MELANOMA	-	-	-	-	NAV3	uc001syp.3,p.P69L|ENST00000536525,p.P69L|NM_001024383,p.P69L|ENST00000397909,p.P69L|NM_014903,p.P69L|ENST00000549464,p.P69L|uc001syo.3,p.P69L|ENST00000266692,p.P69L|ENST00000228327,p.P69L	retained_intron, protein_coding, processed_transcript	uc001syp.3	nonsynonymous SNV	exon1	c.C206T	p.P69L	ALKSTCEFGEKKPLQGKAKEKEDSK	ALKSTCEFGEKKLLQGKAKEKEDSK	9.0	10.0	-	-	3919_12:78225447-78225447 C>T_ALKSTCEFGEKKLLQGKAKEKEDSK
6:49803144-49803144 A>G	0.0	3919	MELANOMA	-	-	-	-	CRISP1	NM_001205220,p.I212T|NM_001131,p.I212T|uc003ozw.2,p.I212T|uc021zaj.1,p.I212T|ENST00000355791,p.I212T|ENST00000505118,p.I212T|ENST00000335847,p.I212T	protein_coding	uc021zaj.1	nonsynonymous SNV	exon8	c.T635C	p.I212T	SNCEDKLCTNPCIYYDEYFDCDIQV	SNCEDKLCTNPCTYYDEYFDCDIQV	1.0	5.0	unscreened	-	3919_6:49803144-49803144 A>G_SNCEDKLCTNPCTYYDEYFDCDIQV
2:179439940-179439940 T>A	1.0	3919	MELANOMA	-	-	-	-	TTN	NM_001256850,p.Q21999L|NM_133432,p.Q14700L|NM_001267550,p.Q23640L|uc021vsz.2,p.Q14767L|uc021vta.2,p.Q14700L|uc021vsy.2,p.Q21072L|uc031rqc.1,p.Q23640L|ENST00000460472,p.Q14575L|NM_133437,p.Q14767L|ENST00000342992,p.Q21072L|ENST00000589042,p.Q23640L|ENST00000342175,p.Q14767L|NM_133378,p.Q21072L|NM_003319,p.Q14575L|ENST00000591111,p.Q21999L|uc021vtb.2,p.Q14575L|ENST00000359218,p.Q14700L|uc031rqd.1,p.Q21999L	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon276	c.A65996T	p.Q21999L	TMLPELDLRGIYQKLVIAKAGDNIK	TMLPELDLRGIYLKLVIAKAGDNIK	5.0	8.0	unscreened	-	3919_2:179439940-179439940 T>A_TMLPELDLRGIYLKLVIAKAGDNIK
2:15567835-15567835 C>A	0.0	3919	MELANOMA	-	-	-	-	NBAS	ENST00000441750,p.R808I|ENST00000281513,p.R808I|NM_015909,p.R808I|uc002rcc.2,p.R808I	retained_intron, protein_coding, nonsense_mediated_decay	uc002rcc.2	nonsynonymous SNV	exon22	c.G2423T	p.R808I	HRAKDWCEELACRMVVEPNLQDESE	HRAKDWCEELACIMVVEPNLQDESE	5.0	1.0	unscreened	-	3919_2:15567835-15567835 C>A_HRAKDWCEELACIMVVEPNLQDESE
1:157771726-157771726 C>T	0.0	3919	MELANOMA	-	-	-	-	FCRL1	uc001frg.3,p.A289T|NM_052938,p.A289T|ENST00000491942,p.A289T|ENST00000368176,p.A289T|uc001frh.3,p.A289T|NM_001159398,p.A289T	protein_coding, processed_transcript	uc001frh.3	nonsynonymous SNV	exon5	c.G865A	p.A289T	EANNGLGAQRSEAVTLNFTVPTGAR	EANNGLGAQRSETVTLNFTVPTGAR	1.0	6.0	unscreened	-	3919_1:157771726-157771726 C>T_EANNGLGAQRSETVTLNFTVPTGAR
3:14239588-14239588 T>C	1.0	3919	MELANOMA	-	-	-	-	LSM3	ENST00000306024,p.L94P|NM_014463,p.L94P|uc003byn.3,p.L94P	protein_coding	uc003byn.3	nonsynonymous SNV	exon4	c.T281C	p.L94P	IPMLFVRGDGVVLVAPPLRVG	IPMLFVRGDGVVPVAPPLRVG	8.0	2.0	-	-	3919_3:14239588-14239588 T>C_IPMLFVRGDGVVPVAPPLRVG
4:2307130-2307130 G>A	1.0	3919	MELANOMA	-	-	-	-	ZFYVE28	ENST00000511071,p.P283S|uc003gew.2,p.P199S|ENST00000290974,p.P313S|uc003gex.2,p.P313S|NM_001172659,p.P243S|uc011bvk.2,p.P243S|ENST00000515312,p.P243S|uc011bvl.2,p.P283S|NM_001172656,p.P283S|NM_020972,p.P313S	retained_intron, protein_coding, processed_transcript	uc011bvl.2	nonsynonymous SNV	exon7	c.C847T	p.P283S	QGPAALAPALSAPLPPEGPLSAKAK	QGPAALAPALSASLPPEGPLSAKAK	5.0	9.0	-	-	3919_4:2307130-2307130 G>A_QGPAALAPALSASLPPEGPLSAKAK
5:54401341-54401341 C>T	0.0	3919	MELANOMA	-	-	-	-	GZMA	NM_006144,p.P37L|ENST00000274306,p.P37L|uc003jpm.3,p.P37L	protein_coding	uc003jpm.3	nonsynonymous SNV	exon2	c.C110T	p.P37L	VCEKIIGGNEVTPHSRPYMVLLSLD	VCEKIIGGNEVTLHSRPYMVLLSLD	5.0	10.0	unscreened	-	3919_5:54401341-54401341 C>T_VCEKIIGGNEVTLHSRPYMVLLSLD
13:19752445-19752446 CT>-	0.0	3919	MELANOMA	-	-	-	-	TUBA3C	uc009zzj.3,p.R105fs|ENST00000400113,p.R105fs|NM_006001,p.R105fs	protein_coding, processed_transcript	uc009zzj.3	frameshift deletion	exon3	c.315_316del	p.R105fs	ITGKEDAANNYARGHYTIGKEIVDL	ITGKEDAANNYARPLHHRQGDRRPGPGPDPQTGGSVHGTAGLPHLPQFWGWHWLWVRISAHGAALSGLRQEVQARICHLPSPPGLHGRGGALQLHPDHPHDPGTF	1.0	3.0	unscreened	-	3919_13:19752445-19752446 CT>-_ITGKEDAANNYARPLHHRQGDRRPGPGPDPQTGGSVHGTAGLPHLPQFWGWHWLWVRISAHGAALSGLRQEVQARICHLPSPPGLHGRGGALQLHPDHPHDPGTF
1:207287603-207287603 G>A	0.0	3919	MELANOMA	-	-	-	-	C4BPA	ENST00000424088,p.E101K	protein_coding, nonsense_mediated_decay	ENST00000424088	nonsynonymous SNV	exon3	c.G301A	p.E101K	HSTQTLTCNSDGEWVYNTFCILDTG	HSTQTLTCNSDGKWVYNTFCILDTG	1.0	6.0	unscreened	-	3919_1:207287603-207287603 G>A_HSTQTLTCNSDGKWVYNTFCILDTG
12:124401169-124401169 G>A	0.0	3919	MELANOMA	-	-	-	-	DNAH10	uc001uft.4,p.G3512R|NM_207437,p.G3512R|ENST00000409039,p.G3512R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uft.4	nonsynonymous SNV	exon62	c.G10534A	p.G3512R	IKVSQGRQFIILGDKEVDYDSNFRL	IKVSQGRQFIILRDKEVDYDSNFRL	9.0	2.0	unscreened	-	3919_12:124401169-124401169 G>A_IKVSQGRQFIILRDKEVDYDSNFRL
16:24183612-24183612 G>A	0.0	3919	MELANOMA	-	-	-	2	PRKCB	uc002dme.3,p.E421K|ENST00000321728,p.E421K|NM_002738,p.E421K|ENST00000472066,p.E68K|ENST00000303531,p.E421K|NM_212535,p.E421K|uc002dmd.3,p.E421K	retained_intron, protein_coding, processed_transcript	uc002dme.3	nonsynonymous SNV	exon11	c.G1261A	p.E421K	CFQTMDRLYFVMEYVNGGDLMYHIQ	CFQTMDRLYFVMKYVNGGDLMYHIQ	3.0	6.0	unscreened	-	3919_16:24183612-24183612 G>A_CFQTMDRLYFVMKYVNGGDLMYHIQ
9:140409917-140409917 G>A	0.0	3919	MELANOMA	-	-	-	-	PNPLA7	uc010ncj.1,p.S380F|uc011mfa.1,p.S87F|uc004cnf.2,p.S355F|NM_001098537,p.S380F|ENST00000434090,p.S346F|NM_152286,p.S355F|ENST00000277531,p.S355F|ENST00000406427,p.S380F	protein_coding, processed_transcript, nonsense_mediated_decay	uc011mfa.1	nonsynonymous SNV	exon4	c.C260T	p.S87F	PAAAGPLLKRSHSVPAPSIRKQILE	PAAAGPLLKRSHFVPAPSIRKQILE	3.0	8.0	unscreened	-	3919_9:140409917-140409917 G>A_PAAAGPLLKRSHFVPAPSIRKQILE
19:36498126-36498126 G>T	0.0	3919	MELANOMA	-	-	-	-	SYNE4	uc002ocr.1,p.S108R|ENST00000324444,p.S108R|uc010een.1,p.S28R|NM_001039876,p.S108R|ENST00000490730,p.S108R|uc002ocq.1,p.S108R	retained_intron, protein_coding	uc010een.1	nonsynonymous SNV	exon3	c.C84A	p.S28R	ISGLEVLEAEQNSLHLCLLGLGRRL	ISGLEVLEAEQNRLHLCLLGLGRRL	6.0	4.0	unscreened	-	3919_19:36498126-36498126 G>T_ISGLEVLEAEQNRLHLCLLGLGRRL
16:28506643-28506643 G>A	0.0	3919	MELANOMA	-	-	-	-	APOBR	ENST00000564831,p.S94N|ENST00000431282,p.S94N|uc002dqb.2,p.S94N|NM_018690,p.S94N|ENST00000328423,p.S94N	protein_coding	uc002dqb.2	nonsynonymous SNV	exon2	c.G281A	p.S94N	RGPGDDRRHEVGSSAVEQTWGWGDG	RGPGDDRRHEVGNSAVEQTWGWGDG	3.0	6.0	unscreened	-	3919_16:28506643-28506643 G>A_RGPGDDRRHEVGNSAVEQTWGWGDG
1:157771726-157771726 C>T	0.0	3919	MELANOMA	-	-	-	-	FCRL1	uc001fri.3,p.A289T|ENST00000358292,p.A289T|NM_001159397,p.A289T	protein_coding, processed_transcript	uc001fri.3	nonsynonymous SNV	exon5	c.G865A	p.A289T	EANNGLGAQRSEAVTLNFTGRRSAR	EANNGLGAQRSETVTLNFTGRRSAR	1.0	6.0	unscreened	-	3919_1:157771726-157771726 C>T_EANNGLGAQRSETVTLNFTGRRSAR
11:2593292-2593292 G>A	0.0	3919	MELANOMA	-	-	-	-	KCNQ1	NM_000218,p.G245R|NM_181798,p.G118R|ENST00000335475,p.G118R|uc001lwo.4,p.G118R|uc001lwn.3,p.G245R|ENST00000155840,p.G245R|ENST00000496887,p.G158R|uc009ydp.2,p.G29R	protein_coding, processed_transcript	uc009ydp.2	nonsynonymous SNV	exon3	c.G85A	p.G29R	LQILRMLHVDRQGGTWRLLGSVVFI	LQILRMLHVDRQRGTWRLLGSVVFI	1.0	10.0	unscreened	-	3919_11:2593292-2593292 G>A_LQILRMLHVDRQRGTWRLLGSVVFI
14:70420173-70420173 A>-	0.0	3919	MELANOMA	-	-	-	-	SMOC1	NM_022137,p.Q101fs|ENST00000381280,p.Q101fs|NM_001034852,p.Q101fs|uc001xls.2,p.Q101fs|ENST00000361956,p.Q101fs|uc001xlt.2,p.Q101fs	retained_intron, protein_coding, processed_transcript	uc001xlt.2	frameshift deletion	exon3	c.302delA	p.Q101fs	DAGQSKCRLERAQALEQAKKPQEAV	DAGQSKCRLERAQPWSKPRSLRKLCLSQSVARMAPLPRCSAILTLGTAGVSPRMGSPSVALLCRIKLLYVQVQSPTSP	2.0	2.0	unscreened	-	3919_14:70420173-70420173 A>-_DAGQSKCRLERAQPWSKPRSLRKLCLSQSVARMAPLPRCSAILTLGTAGVSPRMGSPSVALLCRIKLLYVQVQSPTSP
20:31673871-31673871 C>A	0.0	3919	MELANOMA	-	-	-	-	BPIFB4	NM_182519,p.A276D|uc010zue.2,p.A276D|ENST00000375483,p.A276D	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zue.2	nonsynonymous SNV	exon5	c.C827A	p.A276D	GFLDIAVEVNITAKVRLTMDRTGYP	GFLDIAVEVNITDKVRLTMDRTGYP	1.0	1.0	unscreened	-	3919_20:31673871-31673871 C>A_GFLDIAVEVNITDKVRLTMDRTGYP
17:7721714-7721714 A>G	1.0	3919	MELANOMA	-	-	-	-	DNAH2	ENST00000572933,p.N3491S|NM_020877,p.N3491S|uc010cnm.1,p.N429S|ENST00000575105,p.N440S|uc002giu.1,p.N3491S|ENST00000389173,p.N3491S	retained_intron, protein_coding, nonsense_mediated_decay	uc010cnm.1	nonsynonymous SNV	exon10	c.A1286G	p.N429S	TNFRFYITTKLSNPHYSPETSAKTT	TNFRFYITTKLSSPHYSPETSAKTT	4.0	10.0	unscreened	-	3919_17:7721714-7721714 A>G_TNFRFYITTKLSSPHYSPETSAKTT
X:132887634-132887634 G>A	0.0	3919	MELANOMA	-	-	-	1	GPC3	NM_001164618,p.L287F|uc010nrp.2,p.L175F|ENST00000370818,p.L303F|uc011mvh.2,p.L287F|uc004exe.2,p.L303F|NM_001164617,p.L303F|uc010nro.2,p.L249F|NM_004484,p.L303F|ENST00000394299,p.L303F|ENST00000543339,p.L249F|NM_001164619,p.L249F|uc010nrn.2,p.L303F	protein_coding	uc011mvh.2	nonsynonymous SNV	exon3	c.C859T	p.L287F	EIDKYWREYILSLEELVNGMYRIYD	EIDKYWREYILSFEELVNGMYRIYD	1.0	9.0	-	-	3919_X:132887634-132887634 G>A_EIDKYWREYILSFEELVNGMYRIYD
16:77896720-77896720 G>A	0.0	3919	MELANOMA	-	-	-	-	VAT1L	uc002ffg.1,p.E219K|NM_020927,p.E219K|ENST00000302536,p.E219K	protein_coding, processed_transcript	uc002ffg.1	nonsynonymous SNV	exon4	c.G655A	p.E219K	VTVFGTASTFKHEAIKDSVTHLFDR	VTVFGTASTFKHKAIKDSVTHLFDR	4.0	8.0	unscreened	-	3919_16:77896720-77896720 G>A_VTVFGTASTFKHKAIKDSVTHLFDR
6:161781200-161781200 C>G	0.0	3919	MELANOMA	-	-	-	-	PARK2	uc003qtz.4,p.R253P|NM_013987,p.R374P|uc021zhs.1,p.R324P|uc021zhy.1,p.R352P|uc021zhw.1,p.R211P|ENST00000366894,p.R211P|uc011egf.2,p.R76P|uc031sqz.1,p.R467P|uc003qty.4,p.R374P|ENST00000366896,p.R253P|NM_013988,p.R253P|NM_004562,p.R402P|ENST00000366897,p.R374P|uc021zhv.1,p.R323P|ENST00000366898,p.R402P|uc021zhu.1,p.R449P|uc003qtx.4,p.R402P|ENST00000338468,p.R211P|uc010kkd.3,p.R211P	protein_coding, nonsense_mediated_decay	uc031sqz.1	nonsynonymous SNV	exon13	c.G1400C	p.R467P	AYRVDERAAEQARWEAASKETIKKT	AYRVDERAAEQAPWEAASKETIKKT	1.0	8.0	unscreened	-	3919_6:161781200-161781200 C>G_AYRVDERAAEQAPWEAASKETIKKT
3:36780104-36780104 T>C	0.0	3919	MELANOMA	-	-	-	-	DCLK3	ENST00000416516,p.E16G|uc003cgi.2,p.E16G|NM_033403,p.E16G	protein_coding, processed_transcript	uc003cgi.2	nonsynonymous SNV	exon2	c.A47G	p.E16G	EPLTLKSIQVAVEELYPNKARALTL	EPLTLKSIQVAVGELYPNKARALTL	1.0	2.0	unscreened	-	3919_3:36780104-36780104 T>C_EPLTLKSIQVAVGELYPNKARALTL
20:46365584-46365584 G>A	1.0	3919	MELANOMA	-	-	-	-	SULF2	uc002xto.3,p.S93F|NM_001161841,p.S93F|ENST00000361612,p.S93F|ENST00000437955,p.S93F|ENST00000467815,p.S93F|ENST00000359930,p.S93F|uc002xtr.3,p.S93F|NM_018837,p.S93F|uc010ghv.1,p.S93F|ENST00000484875,p.S93F|NM_198596,p.S93F|uc002xtq.3,p.S93F	retained_intron, protein_coding, processed_transcript	uc010ghv.1	nonsynonymous SNV	exon3	c.C278T	p.S93F	AFVTTPMCCPSRSSILTGKYVHNHN	AFVTTPMCCPSRFSILTGKYVHNHN	4.0	7.0	-	-	3919_20:46365584-46365584 G>A_AFVTTPMCCPSRFSILTGKYVHNHN
6:54804620-54804620 G>A	0.0	3919	MELANOMA	-	-	-	-	FAM83B	NM_001010872,p.S284N|ENST00000306858,p.S284N|uc003pck.4,p.S284N	protein_coding	uc003pck.4	nonsynonymous SNV	exon5	c.G851A	p.S284N	EFRTLYARSCVPSSFAQEESARVKH	EFRTLYARSCVPNSFAQEESARVKH	1.0	8.0	unscreened	-	3919_6:54804620-54804620 G>A_EFRTLYARSCVPNSFAQEESARVKH
7:102575043-102575043 G>A	1.0	3919	MELANOMA	-	-	-	-	LRRC17	NM_001031692,p.G228E|ENST00000339431,p.G228E|uc003vau.3,p.G228E|NM_005824,p.G228E|uc003vat.3,p.G228E|ENST00000249377,p.G228E	protein_coding, processed_transcript	uc003vau.3	nonsynonymous SNV	exon2	c.G683A	p.G228E	EKEQLDPKPQVSGRPPVIKPEVDST	EKEQLDPKPQVSERPPVIKPEVDST	3.0	7.0	unscreened	-	3919_7:102575043-102575043 G>A_EKEQLDPKPQVSERPPVIKPEVDST
1:228479817-228479817 T>C	0.0	3919	MELANOMA	-	-	-	-	OBSCN	ENST00000359599,p.C2367R|NM_001271223,p.C3949R|uc009xez.2,p.C3520R|ENST00000366707,p.C639R|uc001hsq.2,p.C3949R|ENST00000366709,p.C639R|NM_052843,p.C3520R|ENST00000422127,p.C3520R|uc001hsn.4,p.C3520R|NM_001098623,p.C3520R|ENST00000284548,p.C3520R|ENST00000570156,p.C3949R	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon39	c.T10558C	p.C3520R	CGLAMADAGEYLCVCGQERTSATLT	CGLAMADAGEYLRVCGQERTSATLT	5.0	1.0	unscreened	-	3919_1:228479817-228479817 T>C_CGLAMADAGEYLRVCGQERTSATLT
9:118949838-118949838 C>A	0.0	3919	MELANOMA	-	-	-	-	PAPPA	uc011lxq.2,p.T67N|ENST00000328252,p.T274N|uc004bjn.3,p.T274N|uc011lxp.1,p.T67N|NM_002581,p.T274N	protein_coding, processed_transcript	uc011lxq.2	nonsynonymous SNV	exon1	c.C200A	p.T67N	ARTQREILSDMETHGAHTALPQLLL	ARTQREILSDMENHGAHTALPQLLL	4.0	10.0	-	-	3919_9:118949838-118949838 C>A_ARTQREILSDMENHGAHTALPQLLL
19:42841329-42841329 C>T	1.0	3919	MELANOMA	-	-	-	-	MEGF8	NM_001410,p.A495V|uc002otl.4,p.A495V|uc002otm.5,p.A495V|ENST00000251268,p.A495V|NM_001271938,p.A495V|ENST00000334370,p.A495V	retained_intron, protein_coding	uc002otm.5	nonsynonymous SNV	exon8	c.C1484T	p.A495V	FYHLGCHQWVSGAELAPPGTPEGRA	FYHLGCHQWVSGVELAPPGTPEGRA	8.0	3.0	-	-	3919_19:42841329-42841329 C>T_FYHLGCHQWVSGVELAPPGTPEGRA
19:56320400-56320400 C>T	0.0	3919	MELANOMA	-	-	-	-	NLRP11	ENST00000589824,p.V526M|ENST00000592953,p.V427M|ENST00000360133,p.V526M|uc002qmb.3,p.V427M|uc010ygf.2,p.V526M|uc002qlz.3,p.V427M|ENST00000590409,p.V427M|ENST00000443188,p.V526M|NM_145007,p.V526M|ENST00000589093,p.V526M|NM_001297743,p.V427M|ENST00000593244,p.V526M	protein_coding, nonsense_mediated_decay	uc010ygf.2	nonsynonymous SNV	exon5	c.G1576A	p.V526M	QLPMVDSFKWYSVGYMKHLDRDPEK	QLPMVDSFKWYSMGYMKHLDRDPEK	1.0	8.0	unscreened	-	3919_19:56320400-56320400 C>T_QLPMVDSFKWYSMGYMKHLDRDPEK
3:113169285-113169285 C>G	1.0	3919	MELANOMA	-	-	-	-	SPICE1	NM_144718,p.A741P|uc003eah.1,p.A637P|ENST00000295872,p.A741P|uc003eag.4,p.A741P	retained_intron, protein_coding	uc003eah.1	nonsynonymous SNV	exon11	c.G1909C	p.A637P	ERIAELNRQSMEARGKLLQLIEQQK	ERIAELNRQSMEPRGKLLQLIEQQK	5.0	1.0	unscreened	-	3919_3:113169285-113169285 C>G_ERIAELNRQSMEPRGKLLQLIEQQK
21:43963584-43963584 C>T	1.0	3919	MELANOMA	-	-	-	-	SLC37A1	uc002zbj.3,p.S201F|ENST00000352133,p.S201F|uc002zbi.3,p.S201F|ENST00000398341,p.S201F|NM_018964,p.S201F	retained_intron, protein_coding, processed_transcript	uc002zbj.3	nonsynonymous SNV	exon8	c.C602T	p.S201F	RGLIMGVWNSHTSVGNILGSLIAGY	RGLIMGVWNSHTFVGNILGSLIAGY	4.0	5.0	unscreened	-	3919_21:43963584-43963584 C>T_RGLIMGVWNSHTFVGNILGSLIAGY
1:207287603-207287603 G>A	0.0	3919	MELANOMA	-	-	-	-	C4BPA	ENST00000367070,p.E101K|ENST00000421786,p.E101K|NM_000715,p.E101K|uc001hfo.3,p.E101K	protein_coding, nonsense_mediated_decay	uc001hfo.3	nonsynonymous SNV	exon3	c.G301A	p.E101K	HSTQTLTCNSDGEWVYNTFCIYKRC	HSTQTLTCNSDGKWVYNTFCIYKRC	1.0	6.0	unscreened	-	3919_1:207287603-207287603 G>A_HSTQTLTCNSDGKWVYNTFCIYKRC
9:75387408-75387408 C>T	0.0	3919	MELANOMA	-	-	-	-	TMC1	NM_138691,p.P274L|uc004aiz.1,p.P274L|ENST00000396237,p.P274L|ENST00000297784,p.P274L|uc004ajc.1,p.P128L|ENST00000340019,p.P274L|uc010moz.1,p.P232L|uc010mpa.1,p.P128L	protein_coding, processed_transcript	uc010mpa.1	nonsynonymous SNV	exon8	c.C383T	p.P128L	NKRTIGWMNFRLPLSYFLVGIMCIG	NKRTIGWMNFRLLLSYFLVGIMCIG	1.0	7.0	unscreened	-	3919_9:75387408-75387408 C>T_NKRTIGWMNFRLLLSYFLVGIMCIG
19:53208950-53208950 G>A	1.0	3919	MELANOMA	-	-	-	-	ZNF611	uc010ydo.2,p.S383F|ENST00000453741,p.S384F|uc002pzz.3,p.S453F|NM_001161501,p.S384F|uc010ydp.2,p.S453F|ENST00000543227,p.S453F|uc010ydq.2,p.S453F|uc010eqc.3,p.S383F|NM_001161499,p.S453F|NM_030972,p.S453F|ENST00000602162,p.S384F|ENST00000595798,p.S384F|ENST00000540744,p.S453F|ENST00000319783,p.S453F|uc021uyy.1,p.S384F|uc010ydr.2,p.S384F|NM_001161500,p.S453F|uc002qaa.4,p.S383F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021uyy.1	nonsynonymous SNV	exon1	c.C1151T	p.S384F	LVCHHRLHGGEKSYKCKVCDKAFVW	LVCHHRLHGGEKFYKCKVCDKAFVW	5.0	5.0	unscreened	-	3919_19:53208950-53208950 G>A_LVCHHRLHGGEKFYKCKVCDKAFVW
1:214184924-214184924 T>A	0.0	3919	MELANOMA	-	-	-	-	PROX1	NM_001270616,p.Y632N|NM_002763,p.Y632N|ENST00000498508,p.Y632N|uc001hkh.4,p.Y632N|ENST00000435016,p.Y632N|ENST00000261454,p.Y632N|uc001hkg.2,p.Y632N|ENST00000366958,p.Y632N	protein_coding	uc001hkh.4	nonsynonymous SNV	exon4	c.T1894A	p.Y632N	LIKWFSNFREFYYIQMEKYARQAIN	LIKWFSNFREFYNIQMEKYARQAIN	1.0	1.0	unscreened	-	3919_1:214184924-214184924 T>A_LIKWFSNFREFYNIQMEKYARQAIN
19:5772944-5772944 G>A	0.0	3919	MELANOMA	-	-	-	-	CATSPERD	ENST00000381624,p.E637K|NM_152784,p.E637K|uc002mda.3,p.E637K	protein_coding, processed_transcript	uc002mda.3	nonsynonymous SNV	exon20	c.G1909A	p.E637K	TSQPQNWTTMIKEFGGPFFWNRENY	TSQPQNWTTMIKKFGGPFFWNRENY	1.0	7.0	unscreened	-	3919_19:5772944-5772944 G>A_TSQPQNWTTMIKKFGGPFFWNRENY
17:31415987-31415987 C>A	0.0	3919	MELANOMA	-	-	-	-	ASIC2	uc002hhu.3,p.G243V|uc002hht.3,p.G294V|NM_001094,p.G243V|ENST00000225823,p.G294V|ENST00000359872,p.G243V|NM_183377,p.G294V	protein_coding, processed_transcript	uc002hhu.3	nonsynonymous SNV	exon3	c.G728T	p.G243V	IWGETEETTFEAGVKVQIHSQSEPP	IWGETEETTFEAVVKVQIHSQSEPP	1.0	1.0	unscreened	-	3919_17:31415987-31415987 C>A_IWGETEETTFEAVVKVQIHSQSEPP
7:11675776-11675776 C>T	0.0	3919	MELANOMA	-	-	-	-	THSD7A	uc021zzo.1,p.G335R|uc021zzn.1,p.G335R|NM_015204,p.G335R|ENST00000423059,p.G335R	retained_intron, protein_coding, processed_transcript	uc021zzo.1	nonsynonymous SNV	exon2	c.G1003A	p.G335R	YQTREVMCINKTGKAADLSFCQQEK	YQTREVMCINKTRKAADLSFCQQEK	1.0	6.0	unscreened	-	3919_7:11675776-11675776 C>T_YQTREVMCINKTRKAADLSFCQQEK
2:108487278-108487278 C>T	0.0	3919	MELANOMA	-	-	-	-	RGPD4	NM_182588,p.P940S|uc010ywk.2,p.P940S|ENST00000408999,p.P940S|ENST00000354986,p.P940S|uc002tdu.3,p.P127S	protein_coding	uc010ywk.2	nonsynonymous SNV	exon20	c.C2818T	p.P940S	SEPGNQEKESEKPLENDTGFQAQDI	SEPGNQEKESEKSLENDTGFQAQDI	2.0	8.0	-	-	3919_2:108487278-108487278 C>T_SEPGNQEKESEKSLENDTGFQAQDI
18:52575051-52575051 G>A	0.0	3919	MELANOMA	-	-	-	-	CCDC68	uc002lfs.3,p.P306S|NM_025214,p.P306S|NM_001143829,p.P306S|ENST00000337363,p.P306S|ENST00000591504,p.P306S|uc002lft.3,p.P306S|ENST00000432185,p.P306S	retained_intron, protein_coding	uc002lft.3	nonsynonymous SNV	exon11	c.C916T	p.P306S	ELKTQVALSSETPRTKVSKAVSTSE	ELKTQVALSSETSRTKVSKAVSTSE	1.0	10.0	unscreened	-	3919_18:52575051-52575051 G>A_ELKTQVALSSETSRTKVSKAVSTSE
9:107380476-107380476 C>T	0.0	3919	MELANOMA	-	-	ID=COSM1701478;OCCURENCE=1(skin)	-	OR13C9	ENST00000259362,p.E4K|uc011lvr.2,p.E4K|NM_001001956,p.E4K	protein_coding	uc011lvr.2	nonsynonymous SNV	exon1	c.G10A	p.E4K	MEWENQTILVEFFLKG	MEWKNQTILVEFFLKG	1.0	9.0	unscreened	-	3919_9:107380476-107380476 C>T_MEWKNQTILVEFFLKG
10:96454727-96454727 T>A	0.0	3919	MELANOMA	-	-	-	-	CYP2C18	NM_000772,p.C179S|uc001kjw.4,p.C179S|NM_001128925,p.C179S|uc001kjv.4,p.C179S|ENST00000339022,p.C179S|ENST00000285979,p.C179S	protein_coding, processed_transcript	uc001kjw.4	nonsynonymous SNV	exon4	c.T535A	p.C179S	TFILGCAPCNVICSVIFHDRFDYKD	TFILGCAPCNVISSVIFHDRFDYKD	1.0	2.0	unscreened	-	3919_10:96454727-96454727 T>A_TFILGCAPCNVISSVIFHDRFDYKD
7:45010450-45010450 C>A	0.0	3919	MELANOMA	-	-	-	-	MYO1G	uc003tmg.2,p.R114L|ENST00000258787,p.R352L|uc010kym.2,p.R237L|uc003tmi.1,p.R264L|uc003tmj.2,p.R114L|NM_033054,p.R352L|uc003tmh.2,p.R352L	retained_intron, protein_coding, nonsense_mediated_decay	uc010kym.2	nonsynonymous SNV	exon7	c.G710T	p.R237L	EKGHTAAEASYARDACAKAVYQRLF	EKGHTAAEASYALDACAKAVYQRLF	3.0	1.0	unscreened	-	3919_7:45010450-45010450 C>A_EKGHTAAEASYALDACAKAVYQRLF
5:38881823-38881823 G>T	0.0	3919	MELANOMA	-	-	-	-	OSMR	ENST00000502536,p.E125D|ENST00000274276,p.E125D|uc003jln.2,p.E125D|NM_001168355,p.E125D|uc003jlm.2,p.E125D|NM_003999,p.E125D	protein_coding, nonsense_mediated_decay	uc003jln.2	nonsynonymous SNV	exon4	c.G375T	p.E125D	RIKSLVDDAKFPEPNFWSNWSSWEE	RIKSLVDDAKFPDPNFWSNWSSWEE	7.0	4.0	unscreened	-	3919_5:38881823-38881823 G>T_RIKSLVDDAKFPDPNFWSNWSSWEE
5:140348067-140348067 G>A	0.0	3919	MELANOMA	-	-	-	-	PCDHAC2	NM_018899,p.M572I|NM_031883,p.M572I|uc003lii.3,p.M572I|ENST00000289269,p.M572I|uc011dag.2,p.M572I	protein_coding	uc011dag.2	nonsynonymous SNV	exon1	c.G1716A	p.M572I	SSTVTANVYVVDMNDHAPHILYPTS	SSTVTANVYVVDINDHAPHILYPTS	1.0	9.0	unscreened	-	3919_5:140348067-140348067 G>A_SSTVTANVYVVDINDHAPHILYPTS
1:14106454-14106454 C>T	1.0	3919	MELANOMA	-	-	-	2	PRDM2	uc001avk.3,p.P521S|NM_015866,p.P722S|ENST00000413440,p.P521S|uc001avi.3,p.P722S|ENST00000311066,p.P722S|uc021ogk.1,p.P485S|NM_012231,p.P722S|ENST00000235372,p.P722S|ENST00000343137,p.P521S|NM_001007257,p.P521S|uc001avh.3,p.P722S	protein_coding, processed_transcript, nonsense_mediated_decay, ambiguous_orf	uc021ogk.1	nonsynonymous SNV	exon4	c.C1453T	p.P485S	EIAKLGPVCVSAPASMLPVTSSRFK	EIAKLGPVCVSASASMLPVTSSRFK	7.0	9.0	-	-	3919_1:14106454-14106454 C>T_EIAKLGPVCVSASASMLPVTSSRFK
X:21613125-21613125 G>A	0.0	3919	MELANOMA	-	-	-	-	CNKSR2	uc011mjn.2,p.E573K|ENST00000425654,p.E592K|NM_001168648,p.E622K|ENST00000279451,p.E622K|NM_001168647,p.E592K|NM_014927,p.E622K|ENST00000379510,p.E622K|ENST00000543067,p.E573K|uc004czw.3,p.E622K|uc004czy.3,p.E214K|uc011mjo.2,p.E592K|uc004czx.2,p.E622K|NM_001168649,p.E573K	protein_coding, processed_transcript	uc011mjo.2	nonsynonymous SNV	exon15	c.G1774A	p.E592K	EDEKAEGFISLPEFKIDRASECRKK	EDEKAEGFISLPKFKIDRASECRKK	1.0	9.0	unscreened	-	3919_X:21613125-21613125 G>A_EDEKAEGFISLPKFKIDRASECRKK
3:189690698-189690698 G>A	0.0	3919	MELANOMA	-	-	-	-	LEPREL1	uc003fsg.3,p.S374F|uc011bsk.2,p.S555F|NM_001134418,p.S374F|ENST00000319332,p.S555F|ENST00000427335,p.S374F|NM_018192,p.S555F	retained_intron, protein_coding	uc011bsk.2	nonsynonymous SNV	exon11	c.C1664T	p.S555F	ESYFMLNSTLYFSYTHMVCRTALSG	ESYFMLNSTLYFFYTHMVCRTALSG	4.0	5.0	unscreened	-	3919_3:189690698-189690698 G>A_ESYFMLNSTLYFFYTHMVCRTALSG
X:35959408-35959408 C>T	0.0	3919	MELANOMA	-	-	-	-	CXorf22	ENST00000297866,p.P137L|uc004ddj.3,p.P137L|NM_152632,p.P137L|ENST00000493930,p.P137L	protein_coding, nonsense_mediated_decay	uc004ddj.3	nonsynonymous SNV	exon3	c.C410T	p.P137L	NKTTEIPLIGLIPSCQLEIESVVNF	NKTTEIPLIGLILSCQLEIESVVNF	1.0	9.0	unscreened	-	3919_X:35959408-35959408 C>T_NKTTEIPLIGLILSCQLEIESVVNF
7:51094346-51094346 C>T	0.0	3919	MELANOMA	-	-	-	-	COBL	NM_001287436,p.G1191E|uc003tpo.4,p.G676E|NM_015198,p.G1134E|ENST00000445054,p.G1026E|uc003tpp.4,p.G920E|ENST00000395542,p.G1216E|uc003tps.3,p.G1191E|uc003tpr.4,p.G1134E|uc003tpq.4,p.G1075E|ENST00000265136,p.G1134E|uc011kcl.2,p.G1134E|ENST00000431948,p.G1019E	retained_intron, protein_coding	uc011kcl.2	nonsynonymous SNV	exon11	c.G3401A	p.G1134E	GKDRLRKTAEHTGEGRPAKLSYTEA	GKDRLRKTAEHTEEGRPAKLSYTEA	1.0	1.0	unscreened	-	3919_7:51094346-51094346 C>T_GKDRLRKTAEHTEEGRPAKLSYTEA
12:57873155-57873155 C>T	0.0	3919	MELANOMA	-	-	-	-	ARHGAP9	ENST00000393797,p.G83E|uc001sod.3,p.G83E|uc001soe.1,p.G91E|ENST00000550288,p.G91E	retained_intron, protein_coding, processed_transcript	uc001soe.1	nonsynonymous SNV	exon5	c.G272A	p.G91E	TMLSSRWWPSSWGILGLGPRSPPRG	TMLSSRWWPSSWEILGLGPRSPPRG	4.0	10.0	unscreened	-	3919_12:57873155-57873155 C>T_TMLSSRWWPSSWEILGLGPRSPPRG
11:56237060-56237060 C>T	0.0	3919	MELANOMA	-	-	-	-	OR5M3	ENST00000312240,p.R305K|NM_001004742,p.R305K|uc010rjk.2,p.R305K	protein_coding	uc010rjk.2	nonsynonymous SNV	exon1	c.G914A	p.R305K	KDVKKAMMKVISRSC	KDVKKAMMKVISKSC	1.0	10.0	unscreened	-	3919_11:56237060-56237060 C>T_KDVKKAMMKVISKSC
16:4924857-4924857 A>G	1.0	3919	MELANOMA	-	-	-	-	UBN1	ENST00000545171,p.N816D|ENST00000590769,p.N816D|ENST00000262376,p.N816D|uc002cyc.3,p.N816D|NM_001288656,p.N816D|NM_001079514,p.N816D|ENST00000396658,p.N816D|uc010uxw.2,p.N816D|uc002cyb.3,p.N816D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uxw.2	nonsynonymous SNV	exon15	c.A2446G	p.N816D	VKVFHAGTQQQKNFTPPSPFANKLQ	VKVFHAGTQQQKDFTPPSPFANKLQ	9.0	2.0	-	-	3919_16:4924857-4924857 A>G_VKVFHAGTQQQKDFTPPSPFANKLQ
17:56536243-56536243 C>T	0.0	3919	MELANOMA	-	-	-	-	HSF5	uc002iwi.1,p.G536R|ENST00000323777,p.G536R|NM_001080439,p.G536R	protein_coding	uc002iwi.1	nonsynonymous SNV	exon5	c.G1606A	p.G536R	SSRENILPSEQMGFLISEMGPASKP	SSRENILPSEQMRFLISEMGPASKP	1.0	1.0	unscreened	-	3919_17:56536243-56536243 C>T_SSRENILPSEQMRFLISEMGPASKP
2:179585649-179585649 T>A	0.0	3919	MELANOMA	-	-	-	-	TTN	ENST00000342992,p.K6455N|NM_133378,p.K6455N|NM_001267550,p.K7699N|uc031rqd.1,p.K7382N|ENST00000591111,p.K7382N|NM_001256850,p.K7382N|ENST00000589042,p.K7699N|uc021vsy.2,p.K6455N|uc002umz.1,p.K3116N|uc031rqc.1,p.K7699N	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon77	c.A22146T	p.K7382N	VGDASCSTALTVKAPPVFTQKPSPV	VGDASCSTALTVNAPPVFTQKPSPV	5.0	3.0	unscreened	-	3919_2:179585649-179585649 T>A_VGDASCSTALTVNAPPVFTQKPSPV
2:238785995-238785995 G>A	0.0	3919	MELANOMA	-	-	-	-	RAMP1	ENST00000409726,p.R39K|ENST00000403885,p.R39K|uc002vxj.3,p.R61K|ENST00000254661,p.R61K|NM_005855,p.R61K|ENST00000404910,p.R39K	protein_coding	uc002vxj.3	nonsynonymous SNV	exon2	c.G182A	p.R61K	EAVGETLWCDWGRTIRSYRELADCT	EAVGETLWCDWGKTIRSYRELADCT	4.0	1.0	unscreened	-	3919_2:238785995-238785995 G>A_EAVGETLWCDWGKTIRSYRELADCT
5:140554283-140554283 G>A	0.0	3919	MELANOMA	-	-	-	-	PCDHB7	uc003lit.3,p.E623K|ENST00000231137,p.E623K|NM_018940,p.E623K	protein_coding	uc003lit.3	nonsynonymous SNV	exon1	c.G1867A	p.E623K	EPGLFGVWAHNGEVRTARLLSERDA	EPGLFGVWAHNGKVRTARLLSERDA	2.0	2.0	unscreened	-	3919_5:140554283-140554283 G>A_EPGLFGVWAHNGKVRTARLLSERDA
19:23844919-23844919 G>A	1.0	3919	MELANOMA	-	-	-	-	ZNF675	ENST00000601010,p.P75S	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000601010	nonsynonymous SNV	exon3	c.C223T	p.P75S	LTVKRHEMVNEPPESRPVVQPEVQW	LTVKRHEMVNEPSESRPVVQPEVQW	3.0	4.0	unscreened	-	3919_19:23844919-23844919 G>A_LTVKRHEMVNEPSESRPVVQPEVQW
11:5153536-5153536 C>T	0.0	3919	MELANOMA	-	-	-	-	OR52A5	ENST00000307388,p.E113K|uc010qyx.2,p.E113K|NM_001005160,p.E113K	protein_coding	uc010qyx.2	nonsynonymous SNV	exon1	c.G337A	p.E113K	FQMWLIHSFQAIESGILLAMALDRY	FQMWLIHSFQAIKSGILLAMALDRY	1.0	10.0	unscreened	-	3919_11:5153536-5153536 C>T_FQMWLIHSFQAIKSGILLAMALDRY
12:60098668-60098668 C>T	0.0	3919	MELANOMA	-	-	-	-	SLC16A7	ENST00000548610,p.S29F|ENST00000546459,p.S29F|ENST00000549465,p.S29F|ENST00000261187,p.S29F|ENST00000549305,p.S29F|NM_001270623,p.S29F|NM_001270622,p.S29F|ENST00000547379,p.S29F|ENST00000549928,p.S29F|ENST00000551877,p.S29F|ENST00000552432,p.S29F|uc001sqt.4,p.S29F|ENST00000549033,p.S29F|ENST00000552024,p.S29F|uc001sqs.4,p.S29F|uc001squ.4,p.S29F|ENST00000550062,p.S29F|NM_004731,p.S29F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001squ.4	nonsynonymous SNV	exon2	c.C86T	p.S29F	GWGWIVVGAAFISIGFSYAFPKAVT	GWGWIVVGAAFIFIGFSYAFPKAVT	1.0	10.0	-	-	3919_12:60098668-60098668 C>T_GWGWIVVGAAFIFIGFSYAFPKAVT
16:56920302-56920302 C>G	0.0	3919	MELANOMA	-	-	-	-	SLC12A3	ENST00000262502,p.P650R|NM_001126107,p.P650R|NM_000339,p.P651R|uc010ccn.3,p.P650R|uc010ccm.3,p.P651R|ENST00000563236,p.P651R|uc002ekd.4,p.P651R|ENST00000438926,p.P651R|ENST00000566786,p.P650R|NM_001126108,p.P651R	retained_intron, protein_coding, processed_transcript	uc010ccn.3	nonsynonymous SNV	exon16	c.C1949G	p.P650R	KNYRPQCLVLTGPPNFRPALVDFVG	KNYRPQCLVLTGRPNFRPALVDFVG	1.0	2.0	unscreened	-	3919_16:56920302-56920302 C>G_KNYRPQCLVLTGRPNFRPALVDFVG
9:35107394-35107394 G>A	1.0	3919	MELANOMA	-	-	-	-	FAM214B	ENST00000488109,p.P293L|NM_025182,p.P293L|ENST00000378561,p.P293L|ENST00000378554,p.P293L|uc003zwp.1,p.P293L|ENST00000322813,p.P293L|uc003zwm.3,p.P293L|ENST00000378557,p.P293L|uc003zwo.3,p.P293L|ENST00000605244,p.P293L|uc003zwl.3,p.P293L|ENST00000603301,p.P293L	protein_coding, processed_transcript	uc003zwp.1	nonsynonymous SNV	exon3	c.C878T	p.P293L	KATPFWSHLLPGPKEPVLDPTDCGP	KATPFWSHLLPGLKEPVLDPTDCGP	7.0	10.0	unscreened	-	3919_9:35107394-35107394 G>A_KATPFWSHLLPGLKEPVLDPTDCGP
10:90497476-90497476 C>T	0.0	3919	MELANOMA	-	-	-	-	LIPK	uc010qmv.2,p.R252C|ENST00000404190,p.R252C|NM_001080518,p.R252C	protein_coding	uc010qmv.2	nonsynonymous SNV	exon6	c.C754T	p.R252C	FIATKVCNRKLFRRICSNFLFTLSG	FIATKVCNRKLFCRICSNFLFTLSG	1.0	10.0	unscreened	-	3919_10:90497476-90497476 C>T_FIATKVCNRKLFCRICSNFLFTLSG
20:34611608-34611608 A>T	0.0	3919	MELANOMA	-	-	-	-	CNBD2	NM_080834,p.I448L|ENST00000349339,p.I448L|uc002xer.1,p.I448L|ENST00000373973,p.I452L	retained_intron, protein_coding, processed_transcript	uc002xer.1	nonsynonymous SNV	exon11	c.A1342T	p.I448L	LILMSLGNELIRIRKEIFYELIDND	LILMSLGNELIRLRKEIFYELIDND	1.0	2.0	unscreened	-	3919_20:34611608-34611608 A>T_LILMSLGNELIRLRKEIFYELIDND
3:113342488-113342488 G>A	0.0	3919	MELANOMA	-	-	-	-	SIDT1	ENST00000264852,p.V739I|uc011big.2,p.V492I|uc021xcq.1,p.V198I|uc011bii.2,p.V192I|uc021xcn.1,p.V744I|uc003eak.3,p.V739I|NM_017699,p.V739I|ENST00000393830,p.V744I	retained_intron, protein_coding, processed_transcript	uc021xcq.1	nonsynonymous SNV	exon13	c.G592A	p.V198I	FYIIMKLRSSEKVLPVPLFCIVATA	FYIIMKLRSSEKILPVPLFCIVATA	1.0	8.0	unscreened	-	3919_3:113342488-113342488 G>A_FYIIMKLRSSEKILPVPLFCIVATA
1:144880859-144880859 C>T	1.0	3919	MELANOMA	-	-	-	1	PDE4DIP	NM_001198834,p.G1257S|NM_001198832,p.G1213S|uc001elx.4,p.G1213S|uc021ouh.1,p.G1257S|NM_014644,p.G1257S|uc001elv.4,p.G264S|uc001elw.4,p.G1257S	-	uc021ouh.1	nonsynonymous SNV	exon26	c.G3769A	p.G1257S	ANELEKYRVMLTGESLVKQDSKQIQ	ANELEKYRVMLTSESLVKQDSKQIQ	1.0	4.0	-	-	3919_1:144880859-144880859 C>T_ANELEKYRVMLTSESLVKQDSKQIQ
15:33954880-33954880 T>G	0.0	3919	MELANOMA	-	-	-	-	RYR3	ENST00000415757,p.S1717A|NM_001243996,p.S1717A|NM_001036,p.S1717A|uc010bar.3,p.S1717A|ENST00000389232,p.S1717A|uc001zhi.3,p.S1717A	retained_intron, protein_coding, processed_transcript	uc010bar.3	nonsynonymous SNV	exon35	c.T5149G	p.S1717A	CSGAHIRDPVGGSVEFQFVPVLKLI	CSGAHIRDPVGGAVEFQFVPVLKLI	2.0	2.0	unscreened	-	3919_15:33954880-33954880 T>G_CSGAHIRDPVGGAVEFQFVPVLKLI
6:129511460-129511460 A>T	0.0	3919	MELANOMA	-	-	-	-	LAMA2	NM_001079823,p.R526S|NM_000426,p.R526S|uc021zfb.1,p.R526S|uc003qbo.3,p.R526S|uc003qbn.3,p.R526S|ENST00000421865,p.R526S	protein_coding, processed_transcript	uc021zfb.1	nonsynonymous SNV	exon11	c.A1578T	p.R526S	GCDECFCSGVSNRCQSSYWTYGKIQ	GCDECFCSGVSNSCQSSYWTYGKIQ	1.0	5.0	unscreened	-	3919_6:129511460-129511460 A>T_GCDECFCSGVSNSCQSSYWTYGKIQ
19:20003351-20003351 C>T	1.0	3919	MELANOMA	-	-	-	-	ZNF253	NM_021047,p.S432F|ENST00000589717,p.S432F|ENST00000355650,p.S356F|uc002nok.3,p.S356F|uc002noj.3,p.S432F	retained_intron, protein_coding	uc002nok.3	nonsynonymous SNV	exon2	c.C1067T	p.S356F	GEKPYKCEECGKSFTASSTLTTHKR	GEKPYKCEECGKFFTASSTLTTHKR	3.0	8.0	-	-	3919_19:20003351-20003351 C>T_GEKPYKCEECGKFFTASSTLTTHKR
2:97217869-97217869 ->A	1.0	3919	MELANOMA	-	-	-	-	ARID5A	NM_212481,p.P535fs|ENST00000357485,p.P535fs|uc002swe.3,p.P535fs|uc002swg.3,p.P483fs|uc031ron.1,p.P467fs|uc010yuq.2,p.P483fs|ENST00000454558,p.P467fs|uc002swf.3,p.P371fs	retained_intron, protein_coding, nonsense_mediated_decay	uc031ron.1	frameshift insertion	exon7	c.1400_1401insA	p.P467fs	ALPFSPLVIPAFPAHFLATAGPSPM	ALPFSPLVIPAFPGPLPGHRRPLAHGRWPDALPPNVLRQCPPPQTLPGLICLARTTSHNLCSAPLLPPQHQAV	3.0	5.0	unscreened	-	3919_2:97217869-97217869 ->A_ALPFSPLVIPAFPGPLPGHRRPLAHGRWPDALPPNVLRQCPPPQTLPGLICLARTTSHNLCSAPLLPPQHQAV
19:36831245-36831245 G>A	0.0	3919	MELANOMA	-	-	-	-	ZFP14	NM_020917,p.L495F|uc010eex.2,p.L495F|ENST00000270001,p.L495F|NM_001297619,p.L496F|uc010xtd.2,p.L496F	protein_coding	uc010xtd.2	nonsynonymous SNV	exon4	c.C1486T	p.L496F	KECGKAFRLYSFLTQHQRIHTGEKP	KECGKAFRLYSFFTQHQRIHTGEKP	3.0	8.0	unscreened	-	3919_19:36831245-36831245 G>A_KECGKAFRLYSFFTQHQRIHTGEKP
3:97806188-97806188 C>T	0.0	3919	MELANOMA	-	-	-	-	OR5AC2	uc011bgs.2,p.H58Y|NM_054106,p.H58Y|ENST00000358642,p.H58Y	protein_coding	uc011bgs.2	nonsynonymous SNV	exon1	c.C172T	p.H58Y	GLIVLIWNDPHLHMPMYLFLGGLAF	GLIVLIWNDPHLYMPMYLFLGGLAF	1.0	5.0	unscreened	-	3919_3:97806188-97806188 C>T_GLIVLIWNDPHLYMPMYLFLGGLAF
20:31827637-31827637 G>A	0.0	3919	MELANOMA	-	-	ID=COSM1713351;OCCURENCE=1(skin)	-	BPIFA1	NM_016583,p.E117K|NM_001243193,p.E117K|uc002wyv.3,p.E117K|ENST00000354297,p.E117K|uc002wyu.4,p.E117K|ENST00000375422,p.E117K|uc002wyt.4,p.E117K|NM_130852,p.E117K|ENST00000375413,p.E117K	protein_coding	uc002wyv.3	nonsynonymous SNV	exon4	c.G349A	p.E117K	IIDIKVTDPQLLELGLVQSPDGHRL	IIDIKVTDPQLLKLGLVQSPDGHRL	1.0	6.0	unscreened	-	3919_20:31827637-31827637 G>A_IIDIKVTDPQLLKLGLVQSPDGHRL
6:129381003-129381003 G>A	0.0	3919	MELANOMA	-	-	ID=COSM1620881;OCCURENCE=2(liver)	-	LAMA2	uc003qbo.3,p.E120K|NM_001079823,p.E120K|NM_000426,p.E120K|uc003qbn.3,p.E120K|ENST00000421865,p.E120K|uc021zfb.1,p.E120K	protein_coding, processed_transcript	uc021zfb.1	nonsynonymous SNV	exon3	c.G358A	p.E120K	TWWQSPSIKNGIEYHYVTITLDLQQ	TWWQSPSIKNGIKYHYVTITLDLQQ	1.0	8.0	unscreened	-	3919_6:129381003-129381003 G>A_TWWQSPSIKNGIKYHYVTITLDLQQ
6:83075754-83075754 T>C	0.0	3919	MELANOMA	-	-	-	-	TPBG	NM_006670,p.L359P|uc003pjn.4,p.L359P|NM_001166392,p.L359P|uc021zcc.1,p.L359P|ENST00000535040,p.L359P|ENST00000543496,p.L359P|ENST00000369750,p.L359P|uc003pjo.3,p.L359P	protein_coding	uc021zcc.1	nonsynonymous SNV	exon1	c.T1076C	p.L359P	ILPPSLQTSYVFLGIVLALIGAIFL	ILPPSLQTSYVFPGIVLALIGAIFL	3.0	1.0	unscreened	-	3919_6:83075754-83075754 T>C_ILPPSLQTSYVFPGIVLALIGAIFL
15:89389047-89389047 G>A	1.0	3919	MELANOMA	-	-	-	-	ACAN	uc010upp.1,p.A455T|ENST00000561243,p.A455T|NM_013227,p.A455T|ENST00000352105,p.A455T|ENST00000559004,p.A455T|ENST00000439576,p.A455T|uc010upo.1,p.A455T|ENST00000558207,p.A455T|NM_001135,p.A455T|uc002bmx.3,p.A455T	retained_intron, protein_coding	uc010upp.1	nonsynonymous SNV	exon7	c.G1363A	p.A455T	WGFPTPGLGPATAFTSEDLVVQVTA	WGFPTPGLGPATTFTSEDLVVQVTA	4.0	10.0	-	-	3919_15:89389047-89389047 G>A_WGFPTPGLGPATTFTSEDLVVQVTA
16:27457389-27457389 G>A	0.0	3919	MELANOMA	-	-	-	1	IL21R	uc002doq.2,p.G283S|NM_181078,p.G283S|NM_021798,p.G283S|ENST00000395754,p.G283S|ENST00000564089,p.G283S|NM_181079,p.G305S|ENST00000395755,p.G283S|uc002dos.2,p.G283S|uc002dor.2,p.G305S|ENST00000337929,p.G283S	retained_intron, protein_coding, processed_transcript	uc002dos.2	nonsynonymous SNV	exon8	c.G847A	p.G283S	PSPERFFMPLYKGCSGDFKKWVGAP	PSPERFFMPLYKSCSGDFKKWVGAP	2.0	8.0	unscreened	-	3919_16:27457389-27457389 G>A_PSPERFFMPLYKSCSGDFKKWVGAP
1:111891238-111891238 A>G	0.0	3919	MELANOMA	-	-	-	-	PIFO	ENST00000369738,p.K120R|uc001eaw.2,p.K120R|NM_001300831,p.K87R|NM_181643,p.K120R|uc001eax.2,p.K87R|ENST00000369737,p.K87R	protein_coding, processed_transcript	uc001eax.2	nonsynonymous SNV	exon3	c.A260G	p.K87R	NFAPFNVLVPRFKNYPKDTYYPSPG	NFAPFNVLVPRFRNYPKDTYYPSPG	2.0	5.0	unscreened	-	3919_1:111891238-111891238 A>G_NFAPFNVLVPRFRNYPKDTYYPSPG
19:7592463-7592463 C>T	1.0	3919	MELANOMA	-	-	-	-	MCOLN1	ENST00000264079,p.T210I|uc002mgo.3,p.T210I|NM_020533,p.T210I	retained_intron, protein_coding	uc002mgo.3	nonsynonymous SNV	exon5	c.C629T	p.T210I	PERPPPPPSDDLTLLESSSSYKNLT	PERPPPPPSDDLILLESSSSYKNLT	8.0	7.0	-	-	3919_19:7592463-7592463 C>T_PERPPPPPSDDLILLESSSSYKNLT
16:24358124-24358124 C>G	0.0	3919	MELANOMA	-	-	-	-	CACNG3	NM_006539,p.A94G|uc002dmf.3,p.A94G|ENST00000005284,p.A94G	protein_coding	uc002dmf.3	nonsynonymous SNV	exon2	c.C281G	p.A94G	HFPEDADYEQDTAEYLLRAVRASSV	HFPEDADYEQDTGEYLLRAVRASSV	1.0	2.0	unscreened	-	3919_16:24358124-24358124 C>G_HFPEDADYEQDTGEYLLRAVRASSV
7:82997037-82997037 T>G	0.0	3919	MELANOMA	-	-	-	-	SEMA3E	uc003uhy.2,p.K731N|uc022agy.1,p.K671N|ENST00000427262,p.K671N|NM_012431,p.K731N|ENST00000307792,p.K731N|NM_001178129,p.K671N	protein_coding, nonsense_mediated_decay	uc022agy.1	nonsynonymous SNV	exon17	c.A2013C	p.K671N	YSNFQRVEEYCEKVWCTDRKRKKLK	YSNFQRVEEYCENVWCTDRKRKKLK	3.0	1.0	-	-	3919_7:82997037-82997037 T>G_YSNFQRVEEYCENVWCTDRKRKKLK
11:102496029-102496029 C>A	0.0	3919	MELANOMA	-	-	-	-	MMP20	uc001phc.3,p.G8C|NM_004771,p.G8C|ENST00000260228,p.G8C	protein_coding, processed_transcript	uc001phc.3	nonsynonymous SNV	exon1	c.G22T	p.G8C	MKVLPASGLAVFLIMALKFS	MKVLPASCLAVFLIMALKFS	4.0	1.0	unscreened	-	3919_11:102496029-102496029 C>A_MKVLPASCLAVFLIMALKFS
5:169494666-169494666 G>A	0.0	3919	MELANOMA	-	-	-	-	DOCK2	ENST00000256935,p.M1540I|uc003mah.3,p.M96I|NM_004946,p.M1540I|ENST00000540750,p.M601I|uc010jjm.3,p.M1032I|ENST00000520908,p.M1032I|uc003maf.3,p.M1540I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jjm.3	nonsynonymous SNV	exon31	c.G3096A	p.M1032I	SMLLNGIVDPAVMGGFAKYEKAFFT	SMLLNGIVDPAVIGGFAKYEKAFFT	3.0	10.0	-	-	3919_5:169494666-169494666 G>A_SMLLNGIVDPAVIGGFAKYEKAFFT
19:54802566-54802566 C>T	0.0	3919	MELANOMA	-	-	-	-	LILRA3	uc002qfd.3,p.G292E|NM_001172654,p.G228E|uc010erk.3,p.G228E|ENST00000391745,p.G309E|ENST00000251390,p.G292E|ENST00000391744,p.G228E|NM_006865,p.G292E	protein_coding	uc010erk.3	nonsynonymous SNV	exon5	c.G683A	p.G228E	ANFTLGPVSRSYGGQYTCSGAYNLS	ANFTLGPVSRSYEGQYTCSGAYNLS	3.0	8.0	unscreened	-	3919_19:54802566-54802566 C>T_ANFTLGPVSRSYEGQYTCSGAYNLS
6:129511459-129511459 G>A	0.0	3919	MELANOMA	-	-	-	-	LAMA2	ENST00000421865,p.R526K|uc003qbn.3,p.R526K|uc021zfb.1,p.R526K|uc003qbo.3,p.R526K|NM_000426,p.R526K|NM_001079823,p.R526K	protein_coding, processed_transcript	uc021zfb.1	nonsynonymous SNV	exon11	c.G1577A	p.R526K	GCDECFCSGVSNRCQSSYWTYGKIQ	GCDECFCSGVSNKCQSSYWTYGKIQ	1.0	5.0	unscreened	-	3919_6:129511459-129511459 G>A_GCDECFCSGVSNKCQSSYWTYGKIQ
9:35107394-35107394 G>A	1.0	3919	MELANOMA	-	-	-	-	FAM214B	uc022bgj.1,p.P293L	protein_coding, processed_transcript	uc022bgj.1	nonsynonymous SNV	exon1	c.C878T	p.P293L	KATPFWSHLLPGPKEPVLVSQ	KATPFWSHLLPGLKEPVLVSQ	7.0	10.0	-	-	3919_9:35107394-35107394 G>A_KATPFWSHLLPGLKEPVLVSQ
14:70420175-70420175 G>C	0.0	3919	MELANOMA	-	-	-	-	SMOC1	NM_022137,p.A102P|NM_001034852,p.A102P|uc001xls.2,p.A102P|ENST00000361956,p.A102P|uc001xlt.2,p.A102P|ENST00000381280,p.A102P	retained_intron, protein_coding, processed_transcript	uc001xlt.2	nonsynonymous SNV	exon3	c.G304C	p.A102P	AGQSKCRLERAQALEQAKKPQEAVF	AGQSKCRLERAQPLEQAKKPQEAVF	2.0	2.0	unscreened	-	3919_14:70420175-70420175 G>C_AGQSKCRLERAQPLEQAKKPQEAVF
8:73480294-73480294 C>T	0.0	3919	MELANOMA	-	-	-	-	KCNB2	ENST00000523207,p.H109Y|NM_004770,p.H109Y|uc003xzb.3,p.H109Y	protein_coding	uc003xzb.3	nonsynonymous SNV	exon2	c.C325T	p.H109Y	TSILNFYRTGKLHMMEEMCALSFGQ	TSILNFYRTGKLYMMEEMCALSFGQ	1.0	5.0	unscreened	-	3919_8:73480294-73480294 C>T_TSILNFYRTGKLYMMEEMCALSFGQ
1:200012980-200012980 C>T	0.0	3919	MELANOMA	-	-	-	-	NR5A2	NM_205860,p.S94F|ENST00000236914,p.S48F|uc010pph.3,p.S22F|uc001gvc.4,p.S48F|NM_001276464,p.S22F|uc009wzh.3,p.S54F|NM_003822,p.S48F|uc001gvb.4,p.S94F|ENST00000544748,p.S22F|ENST00000367362,p.S94F	protein_coding, nonsense_mediated_decay	uc010pph.3	nonsynonymous SNV	exon2	c.C65T	p.S22F	LEELCPVCGDKVSGYHYGLLTCESC	LEELCPVCGDKVFGYHYGLLTCESC	1.0	6.0	unscreened	-	3919_1:200012980-200012980 C>T_LEELCPVCGDKVFGYHYGLLTCESC
1:145474515-145474515 G>A	1.0	3919	MELANOMA	-	-	-	-	ANKRD34A	ENST00000323397,p.G396E|uc001enq.1,p.G396E|NM_001039888,p.G396E|uc021ouy.1,p.G396E	protein_coding	uc021ouy.1	nonsynonymous SNV	exon1	c.G1187A	p.G396E	QESLPGAVSPLSGRRRSPGLLERRG	QESLPGAVSPLSERRRSPGLLERRG	4.0	7.0	unscreened	-	3919_1:145474515-145474515 G>A_QESLPGAVSPLSERRRSPGLLERRG
12:42853711-42853711 G>T	0.0	3919	MELANOMA	-	-	-	-	PRICKLE1	uc010skw.2,p.S799Y|ENST00000548696,p.S799Y|uc010skv.2,p.S799Y|ENST00000455697,p.S799Y|ENST00000552240,p.S799Y|NM_153026,p.S799Y|NM_001144883,p.S799Y|ENST00000445766,p.S799Y|uc001rnl.3,p.S799Y|ENST00000345127,p.S799Y|uc001rnm.3,p.S799Y|NM_001144881,p.S799Y|NM_001144882,p.S799Y	protein_coding, processed_transcript	uc010skw.2	nonsynonymous SNV	exon8	c.C2396A	p.S799Y	RPQRFAYYTDDLSSPPSALPTPQFG	RPQRFAYYTDDLYSPPSALPTPQFG	1.0	1.0	unscreened	-	3919_12:42853711-42853711 G>T_RPQRFAYYTDDLYSPPSALPTPQFG
11:108550129-108550129 G>A	1.0	3919	MELANOMA	-	-	-	1	DDX10	ENST00000526794,p.M230I|uc001pkm.3,p.M230I|ENST00000322536,p.M230I|uc001pkl.1,p.M230I|NM_004398,p.M230I	retained_intron, protein_coding, processed_transcript	uc001pkm.3	nonsynonymous SNV	exon6	c.G690A	p.M230I	MLVLDEADRILDMGFADTMNAVIEN	MLVLDEADRILDIGFADTMNAVIEN	6.0	9.0	-	-	3919_11:108550129-108550129 G>A_MLVLDEADRILDIGFADTMNAVIEN
2:215852457-215852457 C>T	0.0	3919	MELANOMA	-	-	ID=COSM1016113;OCCURENCE=1(endometrium),1(large_intestine)	-	ABCA12	uc002vev.3,p.R979Q|uc002vew.3,p.R1297Q|ENST00000272895,p.R1297Q|uc010zjn.2,p.R224Q|NM_015657,p.R979Q|NM_173076,p.R1297Q|ENST00000389661,p.R979Q	protein_coding	uc010zjn.2	nonsynonymous SNV	exon29	c.G671A	p.R224Q	WYFPILPSYWKERFGCAEVKPEKSN	WYFPILPSYWKEQFGCAEVKPEKSN	1.0	8.0	unscreened	-	3919_2:215852457-215852457 C>T_WYFPILPSYWKEQFGCAEVKPEKSN
1:237666788-237666788 C>T	0.0	3919	MELANOMA	-	-	-	-	RYR2	ENST00000542537,p.P850S|ENST00000360064,p.P864S|uc001hyl.1,p.P866S|NM_001035,p.P866S|ENST00000366574,p.P866S	protein_coding, processed_transcript	uc001hyl.1	nonsynonymous SNV	exon22	c.C2596T	p.P866S	TVSLTQAAFTPIPVDTSQIVLPPHL	TVSLTQAAFTPISVDTSQIVLPPHL	1.0	6.0	unscreened	-	3919_1:237666788-237666788 C>T_TVSLTQAAFTPISVDTSQIVLPPHL
5:55412473-55412473 C>T	0.0	3919	MELANOMA	-	-	ID=COSM1718043;OCCURENCE=2(NS)	-	ANKRD55	ENST00000504958,p.A269T|uc003jqu.3,p.A312T|uc003jqt.3,p.A24T|ENST00000434982,p.A24T|ENST00000341048,p.A312T|NM_024669,p.A312T	protein_coding, processed_transcript	uc003jqu.3	nonsynonymous SNV	exon9	c.G934A	p.A312T	TPLAYALYCGHTACVKLLSQESRTE	TPLAYALYCGHTTCVKLLSQESRTE	1.0	9.0	unscreened	-	3919_5:55412473-55412473 C>T_TPLAYALYCGHTTCVKLLSQESRTE
1:240492701-240492701 A>T	0.0	3919	MELANOMA	-	-	-	-	FMN2	uc010pyg.2,p.Q53L|uc010pye.2,p.Q1461L|uc010pyd.2,p.Q1457L|ENST00000319653,p.Q1457L|NM_020066,p.Q1457L|uc010pyf.1,p.Q103L|ENST00000545751,p.Q53L	protein_coding, processed_transcript	uc010pyg.2	nonsynonymous SNV	exon3	c.A158T	p.Q53L	PNFSERVFCILFQSTFSESICSIRR	PNFSERVFCILFLSTFSESICSIRR	3.0	1.0	unscreened	-	3919_1:240492701-240492701 A>T_PNFSERVFCILFLSTFSESICSIRR
11:63327584-63327584 C>T	0.0	3919	MELANOMA	-	-	-	-	HRASLS2	uc001nxg.1,p.G31S|ENST00000255695,p.G31S|NM_017878,p.G31S	protein_coding	uc001nxg.1	nonsynonymous SNV	exon2	c.G91A	p.G31S	FGYAHWAIYVGDGYVVHLAPASEIA	FGYAHWAIYVGDSYVVHLAPASEIA	1.0	10.0	unscreened	-	3919_11:63327584-63327584 C>T_FGYAHWAIYVGDSYVVHLAPASEIA
9:77416944-77416944 A>C	0.0	3919	MELANOMA	-	-	-	-	TRPM6	NM_001177311,p.F622V|uc022bib.1,p.F622V|NM_017662,p.F627V|ENST00000451710,p.F627V|ENST00000376864,p.F627V|NM_001177310,p.F622V|ENST00000449912,p.F622V|uc004ajl.1,p.F627V|ENST00000361255,p.F622V|ENST00000360774,p.F627V|uc004ajk.1,p.F622V	protein_coding, processed_transcript	uc022bib.1	nonsynonymous SNV	exon16	c.T1864G	p.F622V	AVLMKRQKMAMFFWQHGEEATVKAV	AVLMKRQKMAMFVWQHGEEATVKAV	1.0	6.0	unscreened	-	3919_9:77416944-77416944 A>C_AVLMKRQKMAMFVWQHGEEATVKAV
2:142237992-142237992 C>T	0.0	3919	MELANOMA	-	-	-	1	LRP1B	ENST00000389484,p.G106R|NM_018557,p.G106R|uc002tvj.1,p.G106R	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon3	c.G316A	p.G106R	SQLCNGVLDCPDGYDEGVHCQELLS	SQLCNGVLDCPDRYDEGVHCQELLS	1.0	1.0	unscreened	-	3919_2:142237992-142237992 C>T_SQLCNGVLDCPDRYDEGVHCQELLS
19:59011754-59011754 C>T	0.0	3919	MELANOMA	-	-	-	-	SLC27A5	uc002qtc.2,p.A474T|ENST00000601355,p.A390T|NM_012254,p.A474T|ENST00000263093,p.A474T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002qtc.2	nonsynonymous SNV	exon6	c.G1420A	p.A474T	SPFELVQFDMEAAEPVRDNQGFCIP	SPFELVQFDMEATEPVRDNQGFCIP	8.0	7.0	unscreened	-	3919_19:59011754-59011754 C>T_SPFELVQFDMEATEPVRDNQGFCIP
18:28739480-28739480 G>A	0.0	3919	MELANOMA	-	-	-	-	DSC1	NM_024421,p.L26F|uc002kwm.3,p.L26F|uc002kwn.3,p.L26F|ENST00000257198,p.L26F|NM_004948,p.L26F|ENST00000257197,p.L26F	protein_coding	uc002kwn.3	nonsynonymous SNV	exon2	c.C76T	p.L26F	KQLLFSLLVLTLLCDACQKVYLRVP	KQLLFSLLVLTLFCDACQKVYLRVP	1.0	9.0	unscreened	-	3919_18:28739480-28739480 G>A_KQLLFSLLVLTLFCDACQKVYLRVP
20:60738625-60738625 G>A	1.0	3919	MELANOMA	-	-	-	1	SS18L1	ENST00000331758,p.G223E|uc002ycb.3,p.G223E|uc011aaa.1,p.G223E|NM_198935,p.G223E|ENST00000421564,p.G223E|NM_001301778,p.G92E|ENST00000370848,p.G226E	protein_coding, processed_transcript, nonsense_mediated_decay	uc011aaa.1	nonsynonymous SNV	exon6	c.G668A	p.G223E	QSSIAMMGQGSQGSSMMGQRPMAPY	QSSIAMMGQGSQESSMMGQRPMAPY	8.0	1.0	-	-	3919_20:60738625-60738625 G>A_QSSIAMMGQGSQESSMMGQRPMAPY
2:238249721-238249721 C>T	0.0	3919	MELANOMA	-	-	-	-	COL6A3	ENST00000346358,p.G2413E|ENST00000295550,p.G2613E|NM_004369,p.G2613E|NM_057167,p.G2407E|uc002vwl.2,p.G2613E|ENST00000409809,p.G2407E|ENST00000472056,p.G2006E|ENST00000353578,p.G2407E|NM_057166,p.G2006E|uc002vwo.2,p.G2407E|ENST00000347401,p.G2412E|uc010znj.1,p.G2006E	retained_intron, protein_coding, processed_transcript	uc010znj.1	nonsynonymous SNV	exon35	c.G6017A	p.G2006E	SWRPSFRDRRAAGSDVDIDMAFILD	SWRPSFRDRRAAESDVDIDMAFILD	3.0	1.0	unscreened	-	3919_2:238249721-238249721 C>T_SWRPSFRDRRAAESDVDIDMAFILD
19:23844919-23844919 G>A	1.0	3919	MELANOMA	-	-	-	-	ZNF675	ENST00000600313,p.P75S	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000600313	nonsynonymous SNV	exon3	c.C223T	p.P75S	LTVKRHEMVNEPPGLPLMPSRSWTV	LTVKRHEMVNEPSGLPLMPSRSWTV	3.0	4.0	unscreened	-	3919_19:23844919-23844919 G>A_LTVKRHEMVNEPSGLPLMPSRSWTV
14:72976951-72976951 G>A	0.0	3919	MELANOMA	-	-	-	-	RGS6	uc010ttn.2,p.R352Q|uc021rwb.1,p.R315Q|uc021rwc.1,p.R213Q|ENST00000406236,p.R352Q|uc021rvy.1,p.R315Q|NM_001204423,p.R317Q|NM_001204417,p.R352Q|uc021rvw.1,p.R352Q|NM_001204424,p.R352Q|ENST00000355512,p.R352Q|NM_004296,p.R352Q|ENST00000554782,p.R213Q|NM_001204416,p.R352Q|NM_001204419,p.R315Q|ENST00000553525,p.R352Q|ENST00000554474,p.R352Q|ENST00000343854,p.R315Q|uc021rwa.1,p.R315Q|ENST00000553530,p.R352Q|NM_001204418,p.R352Q|ENST00000556437,p.R352Q|ENST00000555571,p.R352Q|uc001xmx.4,p.R352Q|uc001xmy.4,p.R352Q|uc021rvv.1,p.R317Q|uc021rvx.1,p.R352Q|uc010ttp.1,p.R283Q|uc021rvz.1,p.R315Q|ENST00000404301,p.R352Q|NM_001204421,p.R315Q|NM_001204420,p.R315Q|NM_001204422,p.R315Q|ENST00000434263,p.R283Q|ENST00000407322,p.R352Q|ENST00000402788,p.R352Q|uc001xna.4,p.R352Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021rwc.1	nonsynonymous SNV	exon9	c.G638A	p.R213Q	ILKDQVGRDQFLRFLESEFSSENLR	ILKDQVGRDQFLQFLESEFSSENLR	1.0	10.0	unscreened	-	3919_14:72976951-72976951 G>A_ILKDQVGRDQFLQFLESEFSSENLR
7:100676399-100676399 G>A	0.0	3919	MELANOMA	-	-	-	-	MUC17	ENST00000379439,p.G568R|uc003uxp.1,p.G568R|NM_001040105,p.G568R|ENST00000306151,p.G568R	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.G1702A	p.G568R	EGTSIPTSTPSEGSTPLTNMPVSTR	EGTSIPTSTPSERSTPLTNMPVSTR	1.0	8.0	unscreened	-	3919_7:100676399-100676399 G>A_EGTSIPTSTPSERSTPLTNMPVSTR
2:32475708-32475708 C>T	0.0	3919	MELANOMA	0.0005	-	ID=COSM257527;OCCURENCE=2(large_intestine)	-	NLRC4	uc021vfq.1,p.E409K|ENST00000402280,p.E409K|uc002roi.3,p.E409K|uc002roj.2,p.E409K|NM_021209,p.E409K|NM_001199138,p.E409K|NM_001199139,p.E409K|ENST00000360906,p.E409K|ENST00000404025,p.E409K	protein_coding	uc021vfq.1	nonsynonymous SNV	exon4	c.G1225A	p.E409K	ALEGVFSHKFDFELQDVSSVNEDVL	ALEGVFSHKFDFKLQDVSSVNEDVL	5.0	8.0	unscreened	-	3919_2:32475708-32475708 C>T_ALEGVFSHKFDFKLQDVSSVNEDVL
5:31323035-31323035 G>A	1.0	3919	MELANOMA	-	-	-	-	CDH6	NM_004932,p.G665R|uc003jhe.2,p.G665R|ENST00000265071,p.G665R	retained_intron, protein_coding	uc003jhe.2	nonsynonymous SNV	exon12	c.G1993A	p.G665R	RDNIVSYNDEGGGEEDTQAFDIGTL	RDNIVSYNDEGGREEDTQAFDIGTL	5.0	9.0	unscreened	-	3919_5:31323035-31323035 G>A_RDNIVSYNDEGGREEDTQAFDIGTL
19:23844919-23844919 G>A	1.0	3919	MELANOMA	-	-	-	-	ZNF675	ENST00000601935,p.P75S	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000601935	nonsynonymous SNV	exon3	c.C223T	p.P75S	LTVKRHEMVNEPPGSVGQTQQVVPH	LTVKRHEMVNEPSGSVGQTQQVVPH	3.0	4.0	unscreened	-	3919_19:23844919-23844919 G>A_LTVKRHEMVNEPSGSVGQTQQVVPH
20:43927067-43927067 G>A	0.0	3919	MELANOMA	-	-	ID=COSM419376,COSM3841108;OCCURENCE=1(breast),1(urinary_tract)	-	MATN4	ENST00000537548,p.S390L|ENST00000342716,p.S390L|ENST00000372753,p.S241L|ENST00000360607,p.S349L|uc010zwr.1,p.S338L|ENST00000372756,p.S390L|uc002xnr.1,p.S390L|NM_030592,p.S308L|NM_030590,p.S349L|ENST00000353917,p.S308L|uc002xnp.2,p.S308L|NM_003833,p.S390L|ENST00000372751,p.S241L|ENST00000372754,p.S431L|uc002xnn.2,p.S390L|uc002xno.2,p.S349L	protein_coding	uc010zwr.1	nonsynonymous SNV	exon6	c.C1013T	p.S338L	SPEGTRVGLVQFSSRVRTEFPLGRY	SPEGTRVGLVQFLSRVRTEFPLGRY	1.0	6.0	unscreened	-	3919_20:43927067-43927067 G>A_SPEGTRVGLVQFLSRVRTEFPLGRY
4:47405394-47405394 G>A	0.0	3919	MELANOMA	-	-	-	-	GABRB1	uc011bze.2,p.G132S|ENST00000538619,p.G132S|NM_000812,p.G202S|uc003gxh.3,p.G202S|ENST00000295454,p.G202S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bze.2	nonsynonymous SNV	exon5	c.G394A	p.G132S	EFYWNGGEGAVTGVNKIELPQFSIV	EFYWNGGEGAVTSVNKIELPQFSIV	1.0	10.0	unscreened	-	3919_4:47405394-47405394 G>A_EFYWNGGEGAVTSVNKIELPQFSIV
15:24921957-24921957 G>A	0.0	3919	MELANOMA	-	-	-	-	NPAP1	NM_018958,p.A315T|ENST00000329468,p.A315T|uc001ywo.3,p.A315T	protein_coding	uc001ywo.3	nonsynonymous SNV	exon1	c.G943A	p.A315T	PDEKPFCIPPRSAAPPRAARNRPCK	PDEKPFCIPPRSTAPPRAARNRPCK	1.0	1.0	unscreened	-	3919_15:24921957-24921957 G>A_PDEKPFCIPPRSTAPPRAARNRPCK
7:142561857-142561857 C>T	0.0	3919	MELANOMA	-	-	-	-	EPHB6	uc011kst.2,p.A100V|ENST00000422643,p.A100V|uc011ksu.2,p.A100V|NM_004445,p.A100V|ENST00000392957,p.A100V|ENST00000442129,p.A100V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ksu.2	nonsynonymous SNV	exon7	c.C299T	p.A100V	NWLQTHFVERRGAQRAHIRLHFSVR	NWLQTHFVERRGVQRAHIRLHFSVR	1.0	1.0	unscreened	-	3919_7:142561857-142561857 C>T_NWLQTHFVERRGVQRAHIRLHFSVR
5:72469360-72469360 C>A	0.0	3919	MELANOMA	-	-	-	-	TMEM174	NM_153217,p.S97Y|uc010izc.3,p.S97Y|ENST00000296776,p.S97Y	protein_coding, processed_transcript	uc010izc.3	nonsynonymous SNV	exon1	c.C290A	p.S97Y	FILIAVCKFKMLSCQLCKESEERVP	FILIAVCKFKMLYCQLCKESEERVP	1.0	2.0	unscreened	-	3919_5:72469360-72469360 C>A_FILIAVCKFKMLYCQLCKESEERVP
6:38950137-38950137 G>A	0.0	3919	MELANOMA	-	-	-	-	DNAH8	uc021yzh.1,p.G4284S|ENST00000327475,p.G4272S|uc003oog.1,p.G516S|ENST00000359357,p.G4067S|ENST00000441566,p.G4031S|NM_001206927,p.G4284S|uc003ooe.2,p.G4067S	protein_coding	uc021yzh.1	nonsynonymous SNV	exon86	c.G12850A	p.G4284S	FLHSTVQERRKFGPLGWNIPYEFNS	FLHSTVQERRKFSPLGWNIPYEFNS	1.0	7.0	unscreened	-	3919_6:38950137-38950137 G>A_FLHSTVQERRKFSPLGWNIPYEFNS
16:51171240-51171240 G>A	0.0	3919	MELANOMA	-	-	-	-	SALL1	ENST00000251020,p.S1253F|ENST00000440970,p.S1156F|ENST00000541611,p.S76F|NM_001127892,p.S1156F|uc010cbv.3,p.S105F|uc021tif.1,p.S1156F|NM_002968,p.S1253F	protein_coding, processed_transcript	uc021tif.1	nonsynonymous SNV	exon3	c.C3467T	p.S1156F	LSNGLAMKANEISVIQNGGIPPIPG	LSNGLAMKANEIFVIQNGGIPPIPG	1.0	8.0	unscreened	-	3919_16:51171240-51171240 G>A_LSNGLAMKANEIFVIQNGGIPPIPG
1:47495682-47495682 G>A	0.0	3919	MELANOMA	-	-	-	-	CYP4X1	NM_178033,p.M66I|uc001cqt.3,p.M66I|ENST00000371901,p.M66I	protein_coding, processed_transcript	uc001cqt.3	nonsynonymous SNV	exon2	c.G198A	p.M66I	FLGHQKFIQDDNMEKLEEIIEKYPR	FLGHQKFIQDDNIEKLEEIIEKYPR	1.0	10.0	unscreened	-	3919_1:47495682-47495682 G>A_FLGHQKFIQDDNIEKLEEIIEKYPR
1:47495682-47495682 G>A	0.0	3919	MELANOMA	-	-	-	-	CYP4X1	uc001cqr.3,p.M65I|ENST00000538609,p.M65I	protein_coding, processed_transcript	uc001cqr.3	nonsynonymous SNV	exon2	c.G195A	p.M65I	SSSSGLFIQDDNMEKLEEIIEKYPR	SSSSGLFIQDDNIEKLEEIIEKYPR	1.0	10.0	unscreened	-	3919_1:47495682-47495682 G>A_SSSSGLFIQDDNIEKLEEIIEKYPR
5:149460582-149460582 C>T	0.0	3919	MELANOMA	-	-	-	2	CSF1R	ENST00000504875,p.G19R|uc011dcf.2,p.G19R|NM_005211,p.G19R|uc003lrm.3,p.G19R|ENST00000543093,p.G19R|ENST00000286301,p.G19R|uc003lrl.3,p.G19R|uc011dce.1,p.G19R|NM_001288705,p.G19R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dcf.2	nonsynonymous SNV	exon2	c.G55A	p.G19R	LLLLVATAWHGQGIPVIEPSVPELV	LLLLVATAWHGQRIPVIEPSVPELV	3.0	10.0	unscreened	-	3919_5:149460582-149460582 C>T_LLLLVATAWHGQRIPVIEPSVPELV
21:30365228-30365228 T>A	0.0	3919	MELANOMA	-	-	-	-	LTN1	uc002ymr.2,p.S13C|ENST00000389194,p.S13C|ENST00000389195,p.S13C|NM_015565,p.S13C	protein_coding, processed_transcript	uc002ymr.2	nonsynonymous SNV	exon1	c.A37T	p.S13C	MDRVGGGKGPGGSYYRVSSSAARSR	MDRVGGGKGPGGCYYRVSSSAARSR	6.0	1.0	-	-	3919_21:30365228-30365228 T>A_MDRVGGGKGPGGCYYRVSSSAARSR
2:141771176-141771176 C>T	0.0	3919	MELANOMA	-	-	-	1	LRP1B	NM_018557,p.E777K|ENST00000389484,p.E777K|uc002tvj.1,p.E777K	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon14	c.G2329A	p.E777K	DLITSEVTLLRHERPPLFGLQIYDP	DLITSEVTLLRHKRPPLFGLQIYDP	1.0	5.0	unscreened	-	3919_2:141771176-141771176 C>T_DLITSEVTLLRHKRPPLFGLQIYDP
5:121786785-121786785 C>T	0.0	3919	MELANOMA	-	-	-	-	SNCAIP	uc010jcu.2,p.P344L|ENST00000414317,p.P350L|ENST00000379533,p.P795L|uc003ksw.1,p.P748L|uc003ksz.1,p.P382L|NM_005460,p.P748L|uc010jcx.1,p.P688L|ENST00000509154,p.P688L|ENST00000261367,p.P795L|ENST00000379536,p.P688L|uc003ktc.1,p.P264L|uc011cwl.1,p.P306L|ENST00000261368,p.P748L|ENST00000379538,p.P382L|uc003ksy.1,p.P382L|uc011cwm.1,p.P382L|ENST00000542191,p.P306L|uc003ksx.1,p.P795L|NM_001242935,p.P382L|uc010jcw.1,p.P442L|uc003kta.1,p.P380L	retained_intron, protein_coding, nonsense_mediated_decay	uc011cwm.1	nonsynonymous SNV	exon8	c.C1145T	p.P382L	SIKASKSLDGHSPSPTSESSEPDLE	SIKASKSLDGHSLSPTSESSEPDLE	1.0	10.0	unscreened	-	3919_5:121786785-121786785 C>T_SIKASKSLDGHSLSPTSESSEPDLE
8:22974234-22974234 C>A	0.0	3919	MELANOMA	-	-	-	-	TNFRSF10C	NM_003841,p.A157D|ENST00000356864,p.A157D|uc003xcy.3,p.A157D|ENST00000540813,p.A55D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xcy.3	nonsynonymous SNV	exon5	c.C470A	p.A157D	DDIQCVEEFGANATVETPAAEETMN	DDIQCVEEFGANDTVETPAAEETMN	4.0	2.0	unscreened	-	3919_8:22974234-22974234 C>A_DDIQCVEEFGANDTVETPAAEETMN
1:17682925-17682925 G>A	0.0	3919	MELANOMA	-	-	-	-	PADI4	NM_012387,p.G510E|uc001baj.2,p.G510E|ENST00000375448,p.G510E	protein_coding, processed_transcript	uc001baj.2	nonsynonymous SNV	exon13	c.G1529A	p.G510E	YKLFQEQQNEGHGEALLFEGIKKKK	YKLFQEQQNEGHEEALLFEGIKKKK	1.0	10.0	unscreened	-	3919_1:17682925-17682925 G>A_YKLFQEQQNEGHEEALLFEGIKKKK
14:104493193-104493193 G>A	0.0	3919	MELANOMA	-	-	-	-	TDRD9	ENST00000339063,p.G1067R|uc001yom.4,p.G1067R|NM_153046,p.G1067R|ENST00000409874,p.G1067R|uc001yon.4,p.G805R	retained_intron, protein_coding, processed_transcript	uc001yon.4	nonsynonymous SNV	exon23	c.G2413A	p.G805R	HSVLHVDVYQYSGVQDAINIRDVLI	HSVLHVDVYQYSRVQDAINIRDVLI	2.0	1.0	unscreened	-	3919_14:104493193-104493193 G>A_HSVLHVDVYQYSRVQDAINIRDVLI
19:51411921-51411921 T>C	0.0	3919	MELANOMA	-	-	-	-	KLK4	NM_004917,p.D130G|uc002pub.1,p.D35G|ENST00000431178,p.D81G|uc002pud.1,p.D35G|uc010eoi.1,p.D35G|uc002pty.1,p.D81G|ENST00000324041,p.D130G|uc002pua.1,p.D130G|ENST00000598305,p.D35G|ENST00000593885,p.D35G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010eoi.1	nonsynonymous SNV	exon2	c.A104G	p.D35G	MLIKLDESVSESDTIRSISIASQCP	MLIKLDESVSESGTIRSISIASQCP	1.0	3.0	unscreened	-	3919_19:51411921-51411921 T>C_MLIKLDESVSESGTIRSISIASQCP
1:248569770-248569770 G>A	0.0	3919	MELANOMA	-	-	-	-	OR2T1	NM_030904,p.G159R|ENST00000366474,p.G159R|uc010pzm.2,p.G159R	protein_coding	uc010pzm.2	nonsynonymous SNV	exon1	c.G475A	p.G159R	CTAQHFLYLTLVGAEFFLLGLMAYD	CTAQHFLYLTLVRAEFFLLGLMAYD	1.0	6.0	unscreened	-	3919_1:248569770-248569770 G>A_CTAQHFLYLTLVRAEFFLLGLMAYD
5:13753599-13753599 G>A	0.0	3919	MELANOMA	-	-	ID=COSM1695413;OCCURENCE=3(skin)	-	DNAH5	uc003jfd.2,p.R3539C|ENST00000265104,p.R3539C|NM_001369,p.R3539C	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon63	c.C10615T	p.R3539C	FLSYSGPFNQEFRDLLLNDWRKEMK	FLSYSGPFNQEFCDLLLNDWRKEMK	1.0	10.0	unscreened	-	3919_5:13753599-13753599 G>A_FLSYSGPFNQEFCDLLLNDWRKEMK
22:31522418-31522418 C>T	0.0	3919	MELANOMA	-	-	-	-	INPP5J	NM_001284286,p.S376F|ENST00000331075,p.S443F|uc003aju.4,p.S443F|uc003ajs.4,p.S76F|ENST00000400294,p.S76F|uc010gwf.3,p.S443F|NM_001284288,p.S76F|ENST00000404390,p.S75F|uc003ajv.4,p.S76F|uc003ajt.4,p.S75F|NM_001284289,p.S76F|ENST00000412277,p.S376F|uc011alk.2,p.S376F|ENST00000405300,p.S76F|NM_001002837,p.S75F|NM_001284285,p.S443F	retained_intron, protein_coding, processed_transcript	uc011alk.2	nonsynonymous SNV	exon4	c.C1127T	p.S376F	NVGTAMPPDDVTSLLHLGGGDDSDG	NVGTAMPPDDVTFLLHLGGGDDSDG	4.0	5.0	unscreened	-	3919_22:31522418-31522418 C>T_NVGTAMPPDDVTFLLHLGGGDDSDG
17:62265599-62265599 G>A	1.0	3919	MELANOMA	-	-	-	-	TEX2	ENST00000258991,p.P792S|uc002jec.3,p.P785S|NM_001288733,p.P785S|ENST00000583097,p.P785S|uc002jee.3,p.P785S|NM_018469,p.P792S|NM_001288732,p.P785S|uc002jed.3,p.P792S|ENST00000584379,p.P785S	retained_intron, protein_coding, processed_transcript	uc002jee.3	nonsynonymous SNV	exon5	c.C2353T	p.P785S	LLDYSVYMGRCVPQESRSPQRSPLQ	LLDYSVYMGRCVSQESRSPQRSPLQ	9.0	5.0	unscreened	-	3919_17:62265599-62265599 G>A_LLDYSVYMGRCVSQESRSPQRSPLQ
6:32149398-32149398 C>T	1.0	3919	MELANOMA	-	-	-	-	AGER	ENST00000375070,p.E357K|uc003oar.3,p.E225K|uc003oal.2,p.E326K|NM_001206929,p.E342K|uc021yvp.1,p.E134K|ENST00000375076,p.E326K|NM_001206932,p.E312K|uc003oap.2,p.E342K|NM_001136,p.E326K|uc003oaq.2,p.E312K	retained_intron, protein_coding	uc021yvp.1	nonsynonymous SNV	exon8	c.G400A	p.E134K	RAVSISIIEPGEEGPTAGSVGGSGL	RAVSISIIEPGEKGPTAGSVGGSGL	8.0	8.0	unscreened	-	3919_6:32149398-32149398 C>T_RAVSISIIEPGEKGPTAGSVGGSGL
4:102839221-102839221 C>T	0.0	3919	MELANOMA	-	-	-	-	BANK1	NM_017935,p.H361Y|uc010ill.3,p.H228Y|ENST00000428908,p.H228Y|ENST00000508653,p.H228Y|uc003hvy.4,p.H361Y|NM_001127507,p.H228Y|NM_001083907,p.H331Y|ENST00000504592,p.H346Y|ENST00000322953,p.H361Y|ENST00000444316,p.H331Y|uc003hvx.4,p.H346Y|uc003hvz.4,p.H331Y	retained_intron, protein_coding, processed_transcript	uc010ill.3	nonsynonymous SNV	exon6	c.C682T	p.H228Y	CAAKFGLKNLAIHLLQCSGATWASK	CAAKFGLKNLAIYLLQCSGATWASK	1.0	10.0	unscreened	-	3919_4:102839221-102839221 C>T_CAAKFGLKNLAIYLLQCSGATWASK
4:54343017-54343017 C>T	0.0	3919	MELANOMA	-	-	-	-	LNX1	uc003hag.5,p.E599K|NM_001126328,p.E599K|ENST00000263925,p.E599K|ENST00000306888,p.E503K|uc003haf.4,p.E503K|NM_032622,p.E503K	retained_intron, protein_coding, processed_transcript	uc003hag.5	nonsynonymous SNV	exon9	c.G1795A	p.E599K	LKALEVKEYEPQEDCSSPAALDSNH	LKALEVKEYEPQKDCSSPAALDSNH	7.0	10.0	unscreened	-	3919_4:54343017-54343017 C>T_LKALEVKEYEPQKDCSSPAALDSNH
1:196285118-196285118 G>A	0.0	3919	MELANOMA	-	-	-	-	KCNT2	uc001gte.1,p.A722V|uc001gth.1,p.A293V|ENST00000367433,p.A772V|uc001gtd.1,p.A796V|NM_198503,p.A796V|NM_001287819,p.A772V|uc001gtf.1,p.A772V|ENST00000367431,p.A722V|uc009wyu.3,p.A772V|ENST00000294725,p.A796V|NM_001287820,p.A722V	protein_coding, processed_transcript	uc009wyu.3	nonsynonymous SNV	exon20	c.C2315T	p.A772V	LDDLLRCGVTFAANMVVVDKESTMS	LDDLLRCGVTFAVNMVVVDKESTMS	1.0	7.0	unscreened	-	3919_1:196285118-196285118 G>A_LDDLLRCGVTFAVNMVVVDKESTMS
2:219513513-219513513 C>T	1.0	3919	MELANOMA	0.0005	-	-	-	ZNF142	NM_001105537,p.R373H|ENST00000411696,p.R373H|uc010fvt.4,p.R210H|uc002vil.3,p.R334H|ENST00000449707,p.R373H|uc002vin.4,p.R373H|uc002vim.4,p.R210H	protein_coding, nonsense_mediated_decay	uc010fvt.4	nonsynonymous SNV	exon7	c.G629A	p.R210H	HKKQGHPGSEELRCTFCPFATFNPV	HKKQGHPGSEELHCTFCPFATFNPV	4.0	4.0	unscreened	-	3919_2:219513513-219513513 C>T_HKKQGHPGSEELHCTFCPFATFNPV
3:123021960-123021960 C>T	0.0	3919	MELANOMA	-	-	-	-	ADCY5	NM_183357,p.S889N|ENST00000466617,p.S448N|ENST00000491190,p.S522N|uc021xdd.1,p.S539N|ENST00000462833,p.S889N|uc003egh.2,p.S889N|uc003egg.2,p.S522N|NM_001199642,p.S539N|uc003egi.1,p.S448N|ENST00000309879,p.S539N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xdd.1	nonsynonymous SNV	exon14	c.G1616A	p.S539N	NACHVAESAVNYSLGDEQGFCGSPW	NACHVAESAVNYNLGDEQGFCGSPW	3.0	8.0	unscreened	-	3919_3:123021960-123021960 C>T_NACHVAESAVNYNLGDEQGFCGSPW
7:122091488-122091488 C>T	1.0	3919	MELANOMA	-	-	-	-	CADPS2	uc022akr.1,p.R743K|ENST00000313070,p.R740K|uc010lkq.3,p.R740K|ENST00000449022,p.R743K|ENST00000412584,p.R740K|NM_017954,p.R743K|NM_001009571,p.R740K|uc003vkg.4,p.R440K|ENST00000334010,p.R744K|NM_001167940,p.R743K	protein_coding, processed_transcript	uc022akr.1	nonsynonymous SNV	exon15	c.G2228A	p.R743K	DGIGTVSVEEKERFEEIKERLSSLL	DGIGTVSVEEKEKFEEIKERLSSLL	3.0	7.0	-	-	3919_7:122091488-122091488 C>T_DGIGTVSVEEKEKFEEIKERLSSLL
20:44512271-44512271 C>T	1.0	3919	MELANOMA	-	-	-	-	ZSWIM1	uc021wem.1,p.A347V|ENST00000372523,p.A347V|NM_080603,p.A347V|ENST00000372520,p.A347V|uc010ghi.3,p.A347V	protein_coding	uc021wem.1	nonsynonymous SNV	exon1	c.C1040T	p.A347V	TGPAAQLCLGELAVVQKSTHLIGSG	TGPAAQLCLGELVVVQKSTHLIGSG	5.0	2.0	-	-	3919_20:44512271-44512271 C>T_TGPAAQLCLGELVVVQKSTHLIGSG
2:152527677-152527677 C>T	0.0	3919	MELANOMA	-	-	-	-	NEB	NM_001164508,p.E1456K|ENST00000604864,p.E1456K|uc031rpp.1,p.E1456K|uc002txu.3,p.E1456K|NM_001271208,p.E1456K|ENST00000409198,p.E1456K|uc021vrc.1,p.E1456K|ENST00000603639,p.E1456K|uc021vrd.1,p.E1456K|ENST00000397345,p.E1456K|uc021vrb.1,p.E1456K|uc010fnx.3,p.E1456K|ENST00000172853,p.E1456K|ENST00000427231,p.E1456K|NM_004543,p.E1456K|NM_001164507,p.E1456K	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon38	c.G4366A	p.E1456K	LKGIGWIPIGSLEVEKVKKAGDALN	LKGIGWIPIGSLKVEKVKKAGDALN	7.0	8.0	unscreened	-	3919_2:152527677-152527677 C>T_LKGIGWIPIGSLKVEKVKKAGDALN
12:72416234-72416234 C>T	0.0	3919	MELANOMA	-	-	-	-	TPH2	ENST00000333850,p.A375V|NM_173353,p.A375V|uc001swy.2,p.A285V|uc009zrw.1,p.A375V	protein_coding, processed_transcript, nonsense_mediated_decay	uc009zrw.1	nonsynonymous SNV	exon9	c.C1124T	p.A375V	EFGLCKQEGQLRAYGAGLLSSIGEL	EFGLCKQEGQLRVYGAGLLSSIGEL	1.0	2.0	unscreened	-	3919_12:72416234-72416234 C>T_EFGLCKQEGQLRVYGAGLLSSIGEL
16:75258703-75258703 G>A	0.0	3919	MELANOMA	-	-	-	-	CTRB1	NM_001906,p.G244D|uc002fds.3,p.G244D|ENST00000361017,p.G244D	protein_coding	uc002fds.3	nonsynonymous SNV	exon7	c.G731A	p.G244D	SWGSDTCSTSSPGVYARVTKLIPWV	SWGSDTCSTSSPDVYARVTKLIPWV	1.0	6.0	unscreened	-	3919_16:75258703-75258703 G>A_SWGSDTCSTSSPDVYARVTKLIPWV
1:248202114-248202114 C>T	0.0	3919	MELANOMA	-	-	-	-	OR2L2	ENST00000366479,p.A182V|uc001idw.3,p.A182V|NM_001004686,p.A182V	protein_coding	uc001idw.3	nonsynonymous SNV	exon1	c.C545T	p.A182V	SRAINHFFCDVPAMLTLACTDTWVY	SRAINHFFCDVPVMLTLACTDTWVY	1.0	6.0	unscreened	-	3919_1:248202114-248202114 C>T_SRAINHFFCDVPVMLTLACTDTWVY
5:80550909-80550909 G>C	0.0	3919	MELANOMA	-	-	-	-	CKMT2	uc003khc.4,p.R182P|uc010jaq.3,p.R182P|uc003khd.4,p.R182P|ENST00000424301,p.R182P|ENST00000254035,p.R182P|NM_001099736,p.R182P|NM_001825,p.R182P|ENST00000437669,p.R182P|NM_001099735,p.R182P	retained_intron, protein_coding, processed_transcript	uc010jaq.3	nonsynonymous SNV	exon5	c.G545C	p.R182P	SIRGLSLPPACTRAERREVENVAIT	SIRGLSLPPACTPAERREVENVAIT	7.0	10.0	unscreened	-	3919_5:80550909-80550909 G>C_SIRGLSLPPACTPAERREVENVAIT
X:150912081-150912081 G>A	0.0	3919	MELANOMA	-	-	-	-	CNGA2	NM_005140,p.G369E|uc004fey.1,p.G369E|ENST00000329903,p.G369E	protein_coding	uc004fey.1	nonsynonymous SNV	exon7	c.G1106A	p.G369E	FLIGVLIFATIVGNVGSMISNMNAT	FLIGVLIFATIVENVGSMISNMNAT	1.0	9.0	unscreened	-	3919_X:150912081-150912081 G>A_FLIGVLIFATIVENVGSMISNMNAT
2:185801138-185801138 A>T	0.0	3919	MELANOMA	-	-	-	-	ZNF804A	NM_194250,p.S339C|ENST00000302277,p.S339C|uc002uph.3,p.S339C	protein_coding	uc002uph.3	nonsynonymous SNV	exon4	c.A1015T	p.S339C	NSVPLADQIPLESVVINEDIPVSGN	NSVPLADQIPLECVVINEDIPVSGN	1.0	1.0	-	-	3919_2:185801138-185801138 A>T_NSVPLADQIPLECVVINEDIPVSGN
7:53103630-53103630 C>T	0.0	3919	MELANOMA	-	-	ID=COSM2149742;OCCURENCE=1(central_nervous_system)	-	POM121L12	ENST00000408890,p.P89L|NM_182595,p.P89L|uc003tpz.3,p.P89L	protein_coding	uc003tpz.3	nonsynonymous SNV	exon1	c.C266T	p.P89L	LIEVRPTQDPAKPQRVVSEGWRRPA	LIEVRPTQDPAKLQRVVSEGWRRPA	1.0	7.0	unscreened	-	3919_7:53103630-53103630 C>T_LIEVRPTQDPAKLQRVVSEGWRRPA
10:116331139-116331139 A>G	1.0	3919	MELANOMA	-	-	-	-	ABLIM1	ENST00000392955,p.V137A|uc021pyy.1,p.V137A|ENST00000369256,p.V137A|uc021pyw.1,p.V197A|uc021pyx.1,p.V197A|NM_001003408,p.V137A|uc021pzd.1,p.V45A|NM_001003407,p.V137A|uc021pzf.1,p.V131A|ENST00000277895,p.V197A|NM_002313,p.V197A|ENST00000369252,p.V137A|ENST00000533213,p.V137A|uc021pza.1,p.V137A|uc021pze.1,p.V121A	protein_coding, processed_transcript	uc021pzf.1	nonsynonymous SNV	exon4	c.T392C	p.V131A	TICKRPFPPGDRVTFNGRDCLCQLC	TICKRPFPPGDRATFNGRDCLCQLC	4.0	2.0	unscreened	-	3919_10:116331139-116331139 A>G_TICKRPFPPGDRATFNGRDCLCQLC
X:129154991-129154991 C>T	1.0	3919	MELANOMA	-	-	-	1	BCORL1	ENST00000456822,p.S758F|ENST00000303743,p.S1158F|uc022cdu.1,p.S1158F|ENST00000359304,p.S1158F|uc010nrd.1,p.S1060F|ENST00000218147,p.S1158F|NM_021946,p.S1158F|ENST00000540052,p.S1158F	protein_coding, processed_transcript	uc022cdu.1	nonsynonymous SNV	exon4	c.C3473T	p.S1158F	PKCRKLPSDPQESTKKSPRGASDSG	PKCRKLPSDPQEFTKKSPRGASDSG	6.0	9.0	-	-	3919_X:129154991-129154991 C>T_PKCRKLPSDPQEFTKKSPRGASDSG
4:141832450-141832450 G>A	1.0	3919	MELANOMA	-	-	-	-	RNF150	NM_020724,p.P349L|uc003iip.1,p.P349L|ENST00000515673,p.P349L|uc010iok.1,p.P307L|uc003iio.1,p.P349L|ENST00000507500,p.P349L|ENST00000420921,p.P208L|ENST00000306799,p.P307L|ENST00000379512,p.P208L|ENST00000506101,p.P180L	protein_coding, processed_transcript	uc010iok.1	nonsynonymous SNV	exon6	c.C920T	p.P307L	DLPTDFEGSLGGPPTNQITGASDTT	DLPTDFEGSLGGLPTNQITGASDTT	5.0	10.0	unscreened	-	3919_4:141832450-141832450 G>A_DLPTDFEGSLGGLPTNQITGASDTT
8:25718585-25718585 G>A	0.0	3919	MELANOMA	-	-	-	-	EBF2	NM_022659,p.S441L|ENST00000408929,p.S293L|uc003xes.2,p.S441L|ENST00000520164,p.S441L|ENST00000535548,p.S172L	retained_intron, protein_coding	uc003xes.2	nonsynonymous SNV	exon13	c.C1322T	p.S441L	SYGSQLGVSISESTQGNNQGYIRNT	SYGSQLGVSISELTQGNNQGYIRNT	1.0	7.0	unscreened	-	3919_8:25718585-25718585 G>A_SYGSQLGVSISELTQGNNQGYIRNT
1:248512369-248512369 A>T	0.0	3919	MELANOMA	-	-	-	-	OR14C36	NM_001001918,p.Q98L|ENST00000317861,p.Q98L|uc010pzl.2,p.Q98L	protein_coding	uc010pzl.2	nonsynonymous SNV	exon1	c.A293T	p.Q98L	DSTTISKAGCVAQVFLVVFFVYVEL	DSTTISKAGCVALVFLVVFFVYVEL	1.0	2.0	unscreened	-	3919_1:248512369-248512369 A>T_DSTTISKAGCVALVFLVVFFVYVEL
20:60990671-60990671 G>A	0.0	3919	MELANOMA	-	-	-	-	RBBP8NL	NM_080833,p.P197L|ENST00000252998,p.P197L|uc002ycw.2,p.P197L	protein_coding	uc002ycw.2	nonsynonymous SNV	exon8	c.C590T	p.P197L	AGHRTSPVAKISPGATLPESRAPDM	AGHRTSPVAKISLGATLPESRAPDM	1.0	6.0	unscreened	-	3919_20:60990671-60990671 G>A_AGHRTSPVAKISLGATLPESRAPDM
5:58285655-58285655 G>T	1.0	3919	MELANOMA	-	-	-	-	PDE4D	ENST00000360047,p.A324D|uc003jrw.2,p.A338D|ENST00000502484,p.A399D|uc003jru.3,p.A236D|uc003jsb.3,p.A399D|uc003jrv.2,p.A330D|ENST00000317118,p.A169D|ENST00000505453,p.A158D|ENST00000358923,p.A158D|NM_001197222,p.A236D|ENST00000507116,p.A396D|NM_001197220,p.A330D|uc003jrt.2,p.A158D|uc003jsa.2,p.A460D|ENST00000405755,p.A338D|ENST00000340635,p.A460D|uc003jrx.2,p.A324D|NM_001104631,p.A460D|ENST00000503258,p.A330D|NM_001197223,p.A169D|uc003jrz.3,p.A396D|ENST00000546160,p.A399D|uc003jry.3,p.A158D|NM_006203,p.A324D|NM_001197221,p.A158D|NM_001197218,p.A396D|NM_001165899,p.A399D|NM_001197219,p.A338D|uc003jrs.2,p.A169D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jsb.3	nonsynonymous SNV	exon12	c.C1196A	p.A399D	LMTLEDHYHADVAYHNNIHAADVVQ	LMTLEDHYHADVDYHNNIHAADVVQ	4.0	3.0	unscreened	-	3919_5:58285655-58285655 G>T_LMTLEDHYHADVDYHNNIHAADVVQ
4:100205660-100205660 C>T	0.0	3919	MELANOMA	-	-	-	-	ADH1A	NM_000667,p.E155K|uc003hur.2,p.E155K|ENST00000209668,p.E155K	retained_intron, protein_coding, processed_transcript	uc003hur.2	nonsynonymous SNV	exon5	c.G463A	p.E155K	GISTFSQYTVVDENAVAKIDAASPL	GISTFSQYTVVDKNAVAKIDAASPL	1.0	10.0	unscreened	-	3919_4:100205660-100205660 C>T_GISTFSQYTVVDKNAVAKIDAASPL
1:157508995-157508995 G>A	0.0	3919	MELANOMA	-	-	-	-	FCRL5	ENST00000356953,p.S428F|NM_031281,p.S428F|ENST00000368190,p.S428F|uc010phx.2,p.S179F|ENST00000368191,p.S343F|ENST00000361835,p.S428F|ENST00000368189,p.S428F|uc001fqu.3,p.S428F|uc009wsm.3,p.S428F|uc001fqv.1,p.S428F|uc010phv.1,p.S428F|NM_001195388,p.S428F|uc010phw.1,p.S343F	protein_coding, processed_transcript	uc010phx.2	nonsynonymous SNV	exon8	c.C536T	p.S179F	HEGAALERRSANSAGGVAISFSLTA	HEGAALERRSANFAGGVAISFSLTA	3.0	7.0	unscreened	-	3919_1:157508995-157508995 G>A_HEGAALERRSANFAGGVAISFSLTA
12:7649613-7649613 C>T	0.0	3919	MELANOMA	-	-	-	-	CD163	uc009zfw.2,p.D299N|uc001qsz.3,p.D299N|ENST00000541972,p.D287N|ENST00000396620,p.D299N|ENST00000359156,p.D299N|NM_203416,p.D299N|uc001qta.3,p.D299N|NM_004244,p.D299N|ENST00000432237,p.D299N	retained_intron, protein_coding, processed_transcript	uc009zfw.2	nonsynonymous SNV	exon5	c.G895A	p.D299N	WGTICDDGWDSYDAAVACKQLGCPT	WGTICDDGWDSYNAAVACKQLGCPT	5.0	9.0	unscreened	-	3919_12:7649613-7649613 C>T_WGTICDDGWDSYNAAVACKQLGCPT
1:40092327-40092327 G>A	0.0	3919	MELANOMA	-	-	-	-	HEYL	ENST00000535435,p.S252F|uc010oiw.2,p.S252F|NM_014571,p.S280F|uc001cdp.3,p.S280F|ENST00000372852,p.S280F	protein_coding	uc010oiw.2	nonsynonymous SNV	exon5	c.C755T	p.S252F	RSSHIAPLLQSSSPTPPGPTGSAAY	RSSHIAPLLQSSFPTPPGPTGSAAY	1.0	10.0	unscreened	-	3919_1:40092327-40092327 G>A_RSSHIAPLLQSSFPTPPGPTGSAAY
10:73485207-73485207 G>A	0.0	3919	MELANOMA	-	-	-	-	CDH23	NM_001171930,p.R1170Q|ENST00000224721,p.R1175Q|NM_022124,p.R1170Q	protein_coding, processed_transcript	NM_022124	nonsynonymous SNV	exon29	c.G3509A	p.R1170Q	LLMRGPRPLDRERNSSHVLIVEAYN	LLMRGPRPLDREQNSSHVLIVEAYN	3.0	2.0	unscreened	-	3919_10:73485207-73485207 G>A_LLMRGPRPLDREQNSSHVLIVEAYN
8:143957250-143957250 ->T	0.0	3919	MELANOMA	-	-	-	-	CYP11B1	ENST00000517471,p.N333fs|uc010mey.3,p.N404fs|ENST00000292427,p.N333fs|NM_001026213,p.N333fs|uc003yxj.3,p.N333fs|NM_000497,p.N333fs|ENST00000377675,p.N404fs|uc003yxh.3,p.N49fs|uc003yxi.3,p.N333fs	retained_intron, protein_coding	uc010mey.3	frameshift insertion	exon8	c.1211dupA	p.N404fs	FPLLMTLFELARNPNVQQALRQESL	FPLLMTLFELARKPQRAAGPAPGEPGRRSQHQ	2.0	1.0	unscreened	-	3919_8:143957250-143957250 ->T_FPLLMTLFELARKPQRAAGPAPGEPGRRSQHQ
3:44952545-44952545 G>A	0.0	3919	MELANOMA	-	-	-	-	TGM4	NM_003241,p.E568K|ENST00000296125,p.E568K|uc003coc.4,p.E568K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003coc.4	nonsynonymous SNV	exon12	c.G1702A	p.E568K	DDEPVIRGFIIAEIVESKEIMASEV	DDEPVIRGFIIAKIVESKEIMASEV	1.0	8.0	unscreened	-	3919_3:44952545-44952545 G>A_DDEPVIRGFIIAKIVESKEIMASEV
19:56244115-56244115 G>A	0.0	3919	MELANOMA	-	-	-	-	NLRP9	ENST00000590200,p.S361F|ENST00000332836,p.S361F|uc002qly.3,p.S361F|NM_176820,p.S361F	protein_coding	uc002qly.3	nonsynonymous SNV	exon2	c.C1082T	p.S361F	QRLERGEDLEINSQNTTYLYASFLT	QRLERGEDLEINFQNTTYLYASFLT	1.0	4.0	unscreened	-	3919_19:56244115-56244115 G>A_QRLERGEDLEINFQNTTYLYASFLT
19:37879853-37879854 CA>-	0.0	3919	MELANOMA	-	-	-	-	ZNF527	uc010efk.1,p.P301fs|ENST00000436120,p.P301fs|NM_032453,p.P301fs|uc002ogf.3,p.P269fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc010efk.1	frameshift deletion	exon5	c.902_903del	p.P301fs	FTQPQRIHSGEKPYACNDCGKAFSH	FTQPQRIHSGEKLCMQ	4.0	1.0	unscreened	-	3919_19:37879853-37879854 CA>-_FTQPQRIHSGEKLCMQ
8:3326338-3326338 C>T	0.0	3919	MELANOMA	-	-	-	-	CSMD1	uc022aqr.1,p.G486E|NM_033225,p.G486E|ENST00000520002,p.G487E|ENST00000602557,p.G487E|ENST00000542608,p.G486E|ENST00000539096,p.G486E|ENST00000400186,p.G487E|ENST00000537824,p.G486E|ENST00000602723,p.G487E	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon12	c.G1457A	p.G486E	VGDTRSVLYVLTGSSVPDLIVSMSN	VGDTRSVLYVLTESSVPDLIVSMSN	1.0	7.0	unscreened	-	3919_8:3326338-3326338 C>T_VGDTRSVLYVLTESSVPDLIVSMSN
21:43524024-43524024 G>A	0.0	3919	MELANOMA	-	-	-	-	UMODL1	NM_173568,p.G449E|uc002zaf.1,p.G449E|uc002zad.1,p.G377E|NM_001199527,p.G377E|uc002zae.1,p.G377E|uc002zag.1,p.G449E|uc010goy.1,p.G100E|NM_001199528,p.G377E|ENST00000400427,p.G377E|ENST00000400424,p.G377E|ENST00000408910,p.G449E|ENST00000408989,p.G449E|uc010goz.1,p.G194E|NM_001004416,p.G449E|uc010gow.1,p.G241E	 processed_transcript, nonsense_mediated_decay,protein_coding	uc010goz.1	nonsynonymous SNV	exon5	c.G581A	p.G194E	SFPPVVSDLYRSGKLRMQIVSLQAG	SFPPVVSDLYRSEKLRMQIVSLQAG	1.0	6.0	unscreened	-	3919_21:43524024-43524024 G>A_SFPPVVSDLYRSEKLRMQIVSLQAG
2:144765017-144765017 G>A	1.0	3919	MELANOMA	-	-	-	-	GTDC1	ENST00000392869,p.P203S|uc002tvt.2,p.P203S|ENST00000392871,p.P203S|uc002tvp.3,p.P203S|ENST00000241391,p.P203S|ENST00000463875,p.P74S|NM_024659,p.P203S|uc010fnn.3,p.P203S|ENST00000409214,p.P203S|uc002tvs.3,p.P171S|uc002tvo.3,p.P203S|NM_001284238,p.P171S|ENST00000344850,p.P203S|NM_001284234,p.P74S|NM_001284235,p.P203S|NM_001284233,p.P203S|uc021vqf.1,p.P203S|NM_001006636,p.P203S|NM_001164629,p.P203S|uc010fno.3,p.P74S|ENST00000392867,p.P203S|ENST00000542155,p.P203S|uc002tvr.3,p.P203S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vqf.1	nonsynonymous SNV	exon7	c.C607T	p.P203S	KGNGGAVLSMALPFQPEQRDSEDLL	KGNGGAVLSMALSFQPEQRDSEDLL	6.0	5.0	-	-	3919_2:144765017-144765017 G>A_KGNGGAVLSMALSFQPEQRDSEDLL
6:146480583-146480583 A>T	0.0	3919	MELANOMA	-	-	-	-	GRM1	ENST00000361719,p.E267V|uc003qll.3,p.E267V|NM_001278065,p.E267V|uc011edz.2,p.E267V|ENST00000492807,p.E267V|ENST00000355289,p.E267V|ENST00000282753,p.E267V|uc010khv.2,p.E267V|uc010khw.2,p.E267V|uc011eea.2,p.E267V|uc010khu.1,p.E267V|NM_001278066,p.E267V|ENST00000392299,p.E267V|ENST00000507907,p.E267V|NM_001278064,p.E267V|NM_001278067,p.E267V	retained_intron, protein_coding	uc011eea.2	nonsynonymous SNV	exon2	c.A800T	p.E267V	IAHSDKIYSNAGEKSFDRLLRKLRE	IAHSDKIYSNAGVKSFDRLLRKLRE	1.0	7.0	-	-	3919_6:146480583-146480583 A>T_IAHSDKIYSNAGVKSFDRLLRKLRE
11:101918608-101918608 G>A	0.0	3919	MELANOMA	-	-	-	-	C11orf70	uc001pgq.3,p.R20Q|uc001pgo.3,p.R58Q|NM_001195005,p.R58Q|ENST00000526781,p.R58Q|NM_032930,p.R58Q|uc001pgp.3,p.R58Q|ENST00000534360,p.R58Q|ENST00000434758,p.R58Q	retained_intron, protein_coding	uc001pgq.3	nonsynonymous SNV	exon1	c.G59A	p.R20Q	QAFGFDQTFQSYRKDDFVMAFFKDP	QAFGFDQTFQSYQKDDFVMAFFKDP	1.0	9.0	unscreened	-	3919_11:101918608-101918608 G>A_QAFGFDQTFQSYQKDDFVMAFFKDP
X:2852912-2852912 G>C	0.0	3919	MELANOMA	-	-	-	-	ARSE	ENST00000540563,p.F532L|ENST00000381134,p.F577L|NM_001282631,p.F532L|ENST00000545496,p.F602L|uc011mhh.2,p.F602L|NM_001282628,p.F602L|uc004crc.4,p.F577L|NM_000047,p.F577L|uc011mhi.2,p.F523L	protein_coding, processed_transcript	uc011mhi.2	nonsynonymous SNV	exon10	c.C1569G	p.F523L	IWRPWLQPCCGPFPLCWCLREDDPQ	IWRPWLQPCCGPLPLCWCLREDDPQ	2.0	4.0	-	-	3919_X:2852912-2852912 G>C_IWRPWLQPCCGPLPLCWCLREDDPQ
9:136320707-136320707 G>A	0.0	3919	MELANOMA	-	-	-	-	ADAMTS13	uc004cdz.4,p.E854K|uc004cdv.4,p.E1184K|NM_139025,p.E1184K|ENST00000371929,p.E1184K	protein_coding, processed_transcript, nonsense_mediated_decay	uc004cdz.4	nonsynonymous SNV	exon18	c.G2560A	p.E854K	APQPRRLLPGPQENSVQSSACGRQH	APQPRRLLPGPQKNSVQSSACGRQH	3.0	10.0	unscreened	-	3919_9:136320707-136320707 G>A_APQPRRLLPGPQKNSVQSSACGRQH
8:139165247-139165247 G>A	0.0	3919	MELANOMA	-	-	-	2	FAM135B	uc003yva.3,p.H53Y|ENST00000276737,p.H491Y|uc003yvb.3,p.H53Y|uc003yuy.3,p.H491Y|uc003yux.3,p.H392Y|NM_015912,p.H491Y|ENST00000395297,p.H491Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yvb.3	nonsynonymous SNV	exon1	c.C157T	p.H53Y	CPEPGENVATQNHMDMCSESQVYIS	CPEPGENVATQNYMDMCSESQVYIS	1.0	3.0	unscreened	-	3919_8:139165247-139165247 G>A_CPEPGENVATQNYMDMCSESQVYIS
19:56041209-56041209 C>T	0.0	3919	MELANOMA	-	-	ID=COSM137189,COSM137188;OCCURENCE=1(skin)	-	SBK2	ENST00000344158,p.R313Q|NM_001101401,p.R313Q|ENST00000413299,p.R313Q|uc010ygc.2,p.R313Q	protein_coding	uc010ygc.2	nonsynonymous SNV	exon4	c.G938A	p.R313Q	DALLRGLLDPHPRRRSAVIAIREHL	DALLRGLLDPHPQRRSAVIAIREHL	1.0	9.0	unscreened	-	3919_19:56041209-56041209 C>T_DALLRGLLDPHPQRRSAVIAIREHL
1:38201051-38201051 C>T	0.0	3919	MELANOMA	-	-	-	-	EPHA10	ENST00000437645,p.E15K|uc009vvi.3,p.E457K|NM_001099439,p.E457K|ENST00000373048,p.E457K|ENST00000427468,p.E457K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009vvi.3	nonsynonymous SNV	exon6	c.G1369A	p.E457K	VTVSTGPGAPWEEDEIRRDRVEPQS	VTVSTGPGAPWEKDEIRRDRVEPQS	1.0	10.0	unscreened	-	3919_1:38201051-38201051 C>T_VTVSTGPGAPWEKDEIRRDRVEPQS
14:20502596-20502596 C>T	0.0	3919	MELANOMA	-	-	-	-	OR4K13	NM_001004714,p.G108S|uc010tkz.2,p.G108S|ENST00000315693,p.G108S	protein_coding	uc010tkz.2	nonsynonymous SNV	exon1	c.G322A	p.G108S	GCYSQMFFMHLLGGSEMMLLVAMAI	GCYSQMFFMHLLSGSEMMLLVAMAI	1.0	9.0	unscreened	-	3919_14:20502596-20502596 C>T_GCYSQMFFMHLLSGSEMMLLVAMAI
11:118984565-118984565 G>A	1.0	3919	MELANOMA	-	-	-	-	C2CD2L	ENST00000336702,p.G498E|NM_014807,p.G498E|uc001pvn.3,p.G498E	retained_intron, protein_coding, processed_transcript	uc001pvn.3	nonsynonymous SNV	exon12	c.G1493A	p.G498E	SGPSNTSHSSSPGDSHLSNGLDPVA	SGPSNTSHSSSPEDSHLSNGLDPVA	8.0	2.0	-	-	3919_11:118984565-118984565 G>A_SGPSNTSHSSSPEDSHLSNGLDPVA
20:2577832-2577832 G>A	0.0	3919	MELANOMA	-	-	ID=COSM3363173;OCCURENCE=1(kidney)	-	TMC2	uc010zpw.1,p.G203E|NM_080751,p.G371E|ENST00000358864,p.G371E|uc002wgg.1,p.G355E|uc010zpx.1,p.G202E|uc002wgf.1,p.G371E	protein_coding, processed_transcript	uc010zpx.1	nonsynonymous SNV	exon8	c.G605A	p.G202E	SMASNTQGSTGEGESDNFTFSFKMF	SMASNTQGSTGEEESDNFTFSFKMF	5.0	6.0	unscreened	-	3919_20:2577832-2577832 G>A_SMASNTQGSTGEEESDNFTFSFKMF
8:3889601-3889601 C>T	0.0	3919	MELANOMA	-	-	-	-	CSMD1	ENST00000602557,p.G146R|ENST00000539096,p.G146R|uc022aqr.1,p.G146R|ENST00000400186,p.G146R|ENST00000602723,p.G146R|NM_033225,p.G146R|ENST00000542608,p.G146R|ENST00000520002,p.G146R|ENST00000537824,p.G146R	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon4	c.G436A	p.G146R	KALYEVLPSHTCGNPGEILKGVLHG	KALYEVLPSHTCRNPGEILKGVLHG	1.0	4.0	unscreened	-	3919_8:3889601-3889601 C>T_KALYEVLPSHTCRNPGEILKGVLHG
16:51175966-51175966 G>A	0.0	3919	MELANOMA	-	-	-	-	SALL1	ENST00000251020,p.S56L|NM_002968,p.S56L|uc021tie.1,p.S56L	protein_coding, processed_transcript	uc021tie.1	nonsynonymous SNV	exon2	c.C167T	p.S56L	VCGRCCAEFFELSDLLLHKKNCTKN	VCGRCCAEFFELLDLLLHKKNCTKN	1.0	5.0	unscreened	-	3919_16:51175966-51175966 G>A_VCGRCCAEFFELLDLLLHKKNCTKN
6:32149398-32149398 C>T	1.0	3919	MELANOMA	-	-	-	-	AGER	uc021yvn.1,p.E225K|uc003oat.2,p.E342K|NM_001206940,p.E326K|uc021yvo.1,p.E239K|uc003oau.2,p.E326K|uc021yvr.1,p.E326K|ENST00000375055,p.E326K|NM_001206966,p.E326K|uc021yvq.1,p.E225K|ENST00000438221,p.E342K|NM_001206934,p.E342K|uc021yvm.1,p.E239K	retained_intron, protein_coding	uc021yvr.1	nonsynonymous SNV	exon9	c.G976A	p.E326K	RAVSISIIEPGEEGPTAGEGFDKVR	RAVSISIIEPGEKGPTAGEGFDKVR	8.0	8.0	unscreened	-	3919_6:32149398-32149398 C>T_RAVSISIIEPGEKGPTAGEGFDKVR
19:54545436-54545436 C>T	0.0	3919	MELANOMA	-	-	-	-	VSTM1	ENST00000419106,p.E58K|ENST00000376626,p.E137K|NM_001288792,p.E137K|uc002qcx.4,p.E137K	protein_coding, nonsense_mediated_decay	uc002qcx.4	nonsynonymous SNV	exon5	c.G409A	p.E137K	EAPSMKTGSSSEESTKRTSHSKLPE	EAPSMKTGSSSEKSTKRTSHSKLPE	1.0	3.0	unscreened	-	3919_19:54545436-54545436 C>T_EAPSMKTGSSSEKSTKRTSHSKLPE
8:11301875-11301875 C>T	0.0	3919	MELANOMA	-	-	-	-	FAM167A	uc003wtw.2,p.G16R|ENST00000531804,p.G16R|uc010lry.1,p.G16R|ENST00000284486,p.G16R|ENST00000528897,p.G16R|NM_053279,p.G16R|ENST00000534308,p.G16R	protein_coding, processed_transcript	uc010lry.1	nonsynonymous SNV	exon2	c.G46A	p.G16R	PQIHVEEVGAEEGAGAAAPPDDHLR	PQIHVEEVGAEERAGAAAPPDDHLR	1.0	3.0	-	-	3919_8:11301875-11301875 C>T_PQIHVEEVGAEERAGAAAPPDDHLR
2:96781417-96781417 G>A	0.0	3919	MELANOMA	-	-	-	-	ADRA2B	uc021vlh.1,p.P158S|ENST00000409345,p.P158S|NM_000682,p.P158S	protein_coding	uc021vlh.1	nonsynonymous SNV	exon1	c.C472T	p.P158S	PPLIYKGDQGPQPRGRPQCKLNQEA	PPLIYKGDQGPQSRGRPQCKLNQEA	1.0	5.0	unscreened	-	3919_2:96781417-96781417 G>A_PPLIYKGDQGPQSRGRPQCKLNQEA
11:58275479-58275479 G>A	0.0	3919	MELANOMA	-	-	-	-	OR5B21	ENST00000360374,p.L34F|NM_001005218,p.L34F|uc010rki.2,p.L34F	protein_coding	uc010rki.2	nonsynonymous SNV	exon1	c.C100T	p.L34F	QIPLLLAFLFIYLITLLGNGGMMVI	QIPLLLAFLFIYFITLLGNGGMMVI	1.0	9.0	unscreened	-	3919_11:58275479-58275479 G>A_QIPLLLAFLFIYFITLLGNGGMMVI
6:32169904-32169904 G>A	0.0	3919	MELANOMA	-	-	-	-	NOTCH4	NM_004557,p.S1235F|uc003obb.3,p.S1235F|ENST00000375023,p.S1235F	retained_intron, protein_coding, processed_transcript	uc003obb.3	nonsynonymous SNV	exon21	c.C3704T	p.S1235F	LFRDGQCHPQCDSEECLFDGYDCET	LFRDGQCHPQCDFEECLFDGYDCET	4.0	8.0	unscreened	-	3919_6:32169904-32169904 G>A_LFRDGQCHPQCDFEECLFDGYDCET
17:39305502-39305502 G>A	0.0	3919	MELANOMA	-	-	-	-	KRTAP4-5	ENST00000343246,p.P173L|NM_033188,p.P173L|uc002hwb.3,p.P173L	protein_coding	uc002hwb.3	nonsynonymous SNV	exon1	c.C518T	p.P173L	YRPTCVISTCPRPLCCASSCC	YRPTCVISTCPRLLCCASSCC	1.0	9.0	unscreened	-	3919_17:39305502-39305502 G>A_YRPTCVISTCPRLLCCASSCC
X:57337093-57337093 G>A	0.0	3919	MELANOMA	-	-	-	-	FAAH2	NM_174912,p.A115T|ENST00000374900,p.A115T|uc004dvc.3,p.A115T	protein_coding, processed_transcript	uc004dvc.3	nonsynonymous SNV	exon3	c.G343A	p.A115T	VDQKLAEKQEDEATLENKWPFLGVP	VDQKLAEKQEDETTLENKWPFLGVP	1.0	9.0	unscreened	-	3919_X:57337093-57337093 G>A_VDQKLAEKQEDETTLENKWPFLGVP
X:34149933-34149933 G>A	0.0	3919	MELANOMA	-	-	ID=COSM3735785;OCCURENCE=1(skin)	-	FAM47A	ENST00000346193,p.P155S|NM_203408,p.P155S|uc004ddg.3,p.P155S	protein_coding	uc004ddg.3	nonsynonymous SNV	exon1	c.C463T	p.P155S	PDLLLQVLKHLDPERELEDAWACCE	PDLLLQVLKHLDSERELEDAWACCE	1.0	9.0	unscreened	-	3919_X:34149933-34149933 G>A_PDLLLQVLKHLDSERELEDAWACCE
19:6833280-6833280 T>G	0.0	3919	MELANOMA	-	-	-	2	VAV1	ENST00000596764,p.C500G|NM_005428,p.C532G|ENST00000539284,p.C435G|uc010xjh.2,p.C500G|ENST00000602142,p.C532G|uc010dva.2,p.C532G|ENST00000304076,p.C532G|uc002mfu.2,p.C532G|NM_001258207,p.C500G|uc002mfv.2,p.C477G|NM_001258206,p.C532G|ENST00000599806,p.C477G	retained_intron, protein_coding	uc010xjh.2	nonsynonymous SNV	exon15	c.T1498G	p.C500G	MFSFEETTSCKACQMLLRGTFYQGY	MFSFEETTSCKAGQMLLRGTFYQGY	2.0	7.0	unscreened	-	3919_19:6833280-6833280 T>G_MFSFEETTSCKAGQMLLRGTFYQGY
19:51771825-51771825 G>A	0.0	3919	MELANOMA	-	-	-	-	SIGLECL1	uc010ycw.1,p.E96K|ENST00000597824,p.E96K|uc002pwb.1,p.E190K|NM_173635,p.E190K|ENST00000316401,p.E190K	protein_coding, processed_transcript	uc010ycw.1	nonsynonymous SNV	exon4	c.G286A	p.E96K	PVVATFSESRILEKQDKRAS	PVVATFSESRILKKQDKRAS	1.0	6.0	unscreened	-	3919_19:51771825-51771825 G>A_PVVATFSESRILKKQDKRAS
19:54545436-54545436 C>T	0.0	3919	MELANOMA	-	-	-	-	VSTM1	NM_001288791,p.E80K|NM_198481,p.E168K|ENST00000366170,p.E80K|uc002qcw.4,p.E168K|ENST00000338372,p.E168K|NM_001288793,p.E48K	protein_coding, nonsense_mediated_decay	uc002qcw.4	nonsynonymous SNV	exon6	c.G502A	p.E168K	IYRCSQHSSSSEESTKRTSHSKLPE	IYRCSQHSSSSEKSTKRTSHSKLPE	1.0	3.0	unscreened	-	3919_19:54545436-54545436 C>T_IYRCSQHSSSSEKSTKRTSHSKLPE
19:54545058-54545058 G>A	0.0	3919	MELANOMA	-	-	-	-	VSTM1	NM_001288792,p.S158F|uc002qcx.4,p.S158F|ENST00000376626,p.S158F|NM_001288793,p.S69F|NM_198481,p.S189F|NM_001288791,p.S101F|ENST00000338372,p.S189F|ENST00000366170,p.S101F|ENST00000419106,p.S79F|uc002qcw.4,p.S189F	protein_coding, nonsense_mediated_decay	uc002qcx.4	nonsynonymous SNV	exon7	c.C473T	p.S158F	KLPEQEAAEADLSNMERVSLSTADP	KLPEQEAAEADLFNMERVSLSTADP	1.0	8.0	unscreened	-	3919_19:54545058-54545058 G>A_KLPEQEAAEADLFNMERVSLSTADP
6:32096876-32096876 C>T	0.0	3919	MELANOMA	-	-	-	-	FKBPL	uc003nzr.3,p.G228R|uc021yvh.1,p.G228R|NM_022110,p.G228R|ENST00000375156,p.G228R	protein_coding	uc021yvh.1	nonsynonymous SNV	exon1	c.G682A	p.G228R	RGTELFRAGNPEGAARCYGRALRLL	RGTELFRAGNPERAARCYGRALRLL	3.0	2.0	unscreened	-	3919_6:32096876-32096876 C>T_RGTELFRAGNPERAARCYGRALRLL
3:42251393-42251393 G>A	1.0	3919	MELANOMA	-	-	ID=COSM169944,COSM169945;OCCURENCE=2(large_intestine)	-	TRAK1	uc011azh.3,p.D627N|NM_014965,p.D569N|uc003cla.4,p.D569N|NM_001265608,p.D627N|NM_001265609,p.D553N|ENST00000396175,p.D569N|NM_001042646,p.D627N|uc011azj.3,p.D553N|uc003cky.4,p.D627N|ENST00000341421,p.D569N|ENST00000327628,p.D627N	protein_coding, processed_transcript, nonsense_mediated_decay	uc011azj.3	nonsynonymous SNV	exon13	c.G1657A	p.D553N	LDVDLDEVYCLNDFEEDDTGDHISL	LDVDLDEVYCLNNFEEDDTGDHISL	9.0	4.0	unscreened	-	3919_3:42251393-42251393 G>A_LDVDLDEVYCLNNFEEDDTGDHISL
1:240370823-240370823 G>T	0.0	3919	MELANOMA	-	-	-	-	FMN2	uc010pyd.2,p.G904V|NM_020066,p.G904V|ENST00000319653,p.G904V|uc010pye.2,p.G908V	protein_coding, processed_transcript	uc010pye.2	nonsynonymous SNV	exon6	c.G2723T	p.G908V	PSTAIPQPPPLQGTEMLPPPPPPLP	PSTAIPQPPPLQVTEMLPPPPPPLP	3.0	1.0	unscreened	-	3919_1:240370823-240370823 G>T_PSTAIPQPPPLQVTEMLPPPPPPLP
1:12854245-12854245 G>A	0.0	3919	MELANOMA	-	-	-	-	PRAMEF1	NM_023013,p.E157K|ENST00000332296,p.E157K|uc001auj.2,p.E157K	protein_coding	uc001auj.2	nonsynonymous SNV	exon3	c.G469A	p.E157K	QPLKVFIDICLKEIPQDECLRYLFQ	QPLKVFIDICLKKIPQDECLRYLFQ	1.0	1.0	unscreened	-	3919_1:12854245-12854245 G>A_QPLKVFIDICLKKIPQDECLRYLFQ
7:73010737-73010737 G>A	0.0	3919	MELANOMA	-	-	-	-	MLXIPL	uc003typ.1,p.P538L|uc003tyl.1,p.P632L|uc003tyn.1,p.P632L|ENST00000434326,p.P538L|NM_032953,p.P632L|ENST00000395189,p.P539L|NM_032952,p.P632L|NM_032951,p.P632L|ENST00000414749,p.P632L|ENST00000354613,p.P632L|ENST00000313375,p.P632L|uc003tyk.1,p.P632L|uc003tym.1,p.P632L|ENST00000429400,p.P632L|NM_032954,p.P632L	retained_intron, protein_coding, nonsense_mediated_decay	uc003typ.1	nonsynonymous SNV	exon11	c.C1613T	p.P538L	MPGPGTLSVRVSPPQPILSRGRPDS	MPGPGTLSVRVSLPQPILSRGRPDS	2.0	7.0	unscreened	-	3919_7:73010737-73010737 G>A_MPGPGTLSVRVSLPQPILSRGRPDS
5:90046513-90046513 T>C	0.0	3919	MELANOMA	-	-	-	-	GPR98	uc003kjv.3,p.V1307A|uc003kju.3,p.V3707A|ENST00000405460,p.V3707A|NM_032119,p.V3707A	retained_intron, protein_coding, processed_transcript	uc003kjv.3	nonsynonymous SNV	exon21	c.T3920C	p.V1307A	DGSISDIFPTSGVILFTEGQVLSTI	DGSISDIFPTSGAILFTEGQVLSTI	1.0	9.0	unscreened	-	3919_5:90046513-90046513 T>C_DGSISDIFPTSGAILFTEGQVLSTI
2:231235641-231235641 C>G	1.0	3919	MELANOMA	-	-	-	-	SP140L	NM_138402,p.P181R|ENST00000458341,p.P94R|uc010fxn.2,p.P94R|uc010fxm.1,p.P181R|ENST00000415673,p.P181R|ENST00000243810,p.P181R|ENST00000396563,p.P181R|ENST00000444636,p.P181R	retained_intron, protein_coding	uc010fxn.2	nonsynonymous SNV	exon5	c.C281G	p.P94R	KLSLKQGEVPESPEARKESDQACGK	KLSLKQGEVPESREARKESDQACGK	4.0	2.0	unscreened	-	3919_2:231235641-231235641 C>G_KLSLKQGEVPESREARKESDQACGK
16:58592488-58592488 C>T	1.0	3919	MELANOMA	-	-	-	-	CNOT1	uc002enz.2,p.G170S|ENST00000441024,p.G741S|ENST00000317147,p.G741S|ENST00000567188,p.G741S|uc002enu.5,p.G741S|ENST00000569882,p.G151S|NM_016284,p.G741S|uc002enx.4,p.G741S|NM_206999,p.G741S|uc002env.4,p.G741S|NM_001265612,p.G741S|ENST00000569240,p.G741S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002enz.2	nonsynonymous SNV	exon9	c.G508A	p.G170S	HTQSMQGFPPNLGSAFSTPQSPAKA	HTQSMQGFPPNLSSAFSTPQSPAKA	9.0	2.0	-	-	3919_16:58592488-58592488 C>T_HTQSMQGFPPNLSSAFSTPQSPAKA
1:231335984-231335984 G>A	1.0	3919	MELANOMA	-	-	-	-	TRIM67	uc009xfn.1,p.D452N|ENST00000366653,p.D452N|NM_001004342,p.D452N|ENST00000449018,p.D390N|ENST00000444294,p.D452N|NM_001300889,p.D390N|ENST00000366652,p.D452N	protein_coding	uc009xfn.1	nonsynonymous SNV	exon4	c.G1354A	p.D452N	LMEYCLEVIKENDPSGFLQISDALI	LMEYCLEVIKENNPSGFLQISDALI	4.0	6.0	unscreened	-	3919_1:231335984-231335984 G>A_LMEYCLEVIKENNPSGFLQISDALI
X:107225332-107225332 C>T	0.0	3919	MELANOMA	-	-	-	-	TEX13B	NM_031273,p.S9N|ENST00000302917,p.S9N|uc004enn.1,p.S9N	protein_coding	uc004enn.1	nonsynonymous SNV	exon2	c.G26A	p.S9N	MALRPEDPSSGFRHGNVVAFI	MALRPEDPNSGFRHGNVVAFI	1.0	9.0	unscreened	-	3919_X:107225332-107225332 C>T_MALRPEDPNSGFRHGNVVAFI
22:24579066-24579066 G>A	0.0	3919	MELANOMA	-	rs72613701	-	-	SUSD2	NM_019601,p.G40R|uc002zzn.1,p.G40R|ENST00000358321,p.G40R	retained_intron, protein_coding	uc002zzn.1	nonsynonymous SNV	exon2	c.G118A	p.G40R	QESCSMRCGALDGPCSCHPTCSGLG	QESCSMRCGALDRPCSCHPTCSGLG	6.0	1.0	unscreened	-	3919_22:24579066-24579066 G>A_QESCSMRCGALDRPCSCHPTCSGLG
22:24579067-24579067 G>A	0.0	3919	MELANOMA	-	-	-	-	SUSD2	NM_019601,p.G40E|ENST00000358321,p.G40E|uc002zzn.1,p.G40E	retained_intron, protein_coding	uc002zzn.1	nonsynonymous SNV	exon2	c.G119A	p.G40E	QESCSMRCGALDGPCSCHPTCSGLG	QESCSMRCGALDEPCSCHPTCSGLG	6.0	1.0	unscreened	-	3919_22:24579067-24579067 G>A_QESCSMRCGALDEPCSCHPTCSGLG
9:138657500-138657500 G>A	0.0	3919	MELANOMA	-	-	ID=COSM225891;OCCURENCE=1(skin)	-	KCNT1	uc011mdq.2,p.E411K|NM_001272003,p.E366K|ENST00000487664,p.E366K|ENST00000486577,p.E372K|uc010nbf.3,p.E366K|ENST00000491806,p.E378K|ENST00000371757,p.E411K|ENST00000263604,p.E392K|uc011mdr.2,p.E238K|uc004cgo.1,p.E160K|NM_020822,p.E411K|ENST00000488444,p.E392K|ENST00000298480,p.E411K|ENST00000490355,p.E392K	retained_intron, protein_coding, nonsense_mediated_decay	uc011mdr.2	nonsynonymous SNV	exon13	c.G712A	p.E238K	LQDYYVVILCPTEMDVQVRRVLQIP	LQDYYVVILCPTKMDVQVRRVLQIP	4.0	9.0	unscreened	-	3919_9:138657500-138657500 G>A_LQDYYVVILCPTKMDVQVRRVLQIP
11:1262392-1262392 G>A	0.0	3919	MELANOMA	-	-	-	-	MUC5B	uc001lta.3,p.E1428K|ENST00000529681,p.E1428K|ENST00000447027,p.E1431K|NM_002458,p.E1428K	retained_intron, protein_coding, processed_transcript	uc001lta.3	nonsynonymous SNV	exon31	c.G4282A	p.E1428K	LCHDYELRVLCCEYVPCGPSPAPGT	LCHDYELRVLCCKYVPCGPSPAPGT	3.0	9.0	-	-	3919_11:1262392-1262392 G>A_LCHDYELRVLCCKYVPCGPSPAPGT
4:80328079-80328079 C>T	0.0	3919	MELANOMA	-	-	ID=COSM109274;OCCURENCE=1(skin)	-	GK2	ENST00000358842,p.G426R|uc003hlu.3,p.G426R|NM_033214,p.G426R	protein_coding	uc003hlu.3	nonsynonymous SNV	exon1	c.G1276A	p.G426R	DCGIPLRHLQVDGGMTNNKVLMQLQ	DCGIPLRHLQVDRGMTNNKVLMQLQ	1.0	9.0	unscreened	-	3919_4:80328079-80328079 C>T_DCGIPLRHLQVDRGMTNNKVLMQLQ
20:62122077-62122077 C>T	1.0	3919	MELANOMA	-	-	-	-	EEF1A2	NM_001958,p.V262M|uc002yfe.2,p.V262M|ENST00000298049,p.V262M|ENST00000217182,p.V262M	protein_coding	uc002yfe.2	nonsynonymous SNV	exon6	c.G784A	p.V262M	LQDVYKIGGIGTVPVGRVETGILRP	LQDVYKIGGIGTMPVGRVETGILRP	1.0	6.0	-	-	3919_20:62122077-62122077 C>T_LQDVYKIGGIGTMPVGRVETGILRP
8:95183197-95183197 G>A	0.0	3919	MELANOMA	-	-	-	2	CDH17	ENST00000027335,p.P267L|uc011lgp.1,p.P267L|NM_004063,p.P267L|uc003ygh.2,p.P267L|NM_001144663,p.P267L|ENST00000450165,p.P267L	protein_coding, nonsense_mediated_decay	uc011lgp.1	nonsynonymous SNV	exon8	c.C800T	p.P267L	HPIKITQVRWNDPGAQYSLVDKEKL	HPIKITQVRWNDLGAQYSLVDKEKL	1.0	8.0	unscreened	-	3919_8:95183197-95183197 G>A_HPIKITQVRWNDLGAQYSLVDKEKL
2:116593797-116593797 C>T	0.0	3919	MELANOMA	-	-	-	-	DPP10	uc002tla.2,p.S672F|NM_001004360,p.S665F|uc002tlc.2,p.S668F|NM_001178037,p.S668F|NM_001178034,p.S676F|uc002tle.3,p.S676F|NM_001178036,p.S622F|ENST00000409163,p.S622F|ENST00000410059,p.S672F|NM_020868,p.S672F|uc002tlb.2,p.S622F|uc002tlf.2,p.S665F|ENST00000310323,p.S665F|ENST00000393147,p.S676F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tlf.2	nonsynonymous SNV	exon22	c.C1994T	p.S665F	ILKSDEKLFKCGSVVAPITDLKLYA	ILKSDEKLFKCGFVVAPITDLKLYA	1.0	5.0	unscreened	-	3919_2:116593797-116593797 C>T_ILKSDEKLFKCGFVVAPITDLKLYA
5:140801360-140801360 G>A	0.0	3919	MELANOMA	-	-	-	-	PCDHGA11	ENST00000398587,p.G189E|NM_032092,p.G189E|NM_018914,p.G189E|NM_032091,p.G189E|uc003lko.1,p.G189E|ENST00000518882,p.G189E|uc003lkq.2,p.G189E|uc003lkp.2,p.G189E	protein_coding	uc003lkq.2	nonsynonymous SNV	exon1	c.G566A	p.G189E	NYFSLQLRGRTDGAKNPELVLEGSL	NYFSLQLRGRTDEAKNPELVLEGSL	2.0	2.0	unscreened	-	3919_5:140801360-140801360 G>A_NYFSLQLRGRTDEAKNPELVLEGSL
13:28624322-28624322 C>T	0.0	3919	MELANOMA	-	-	-	1	FLT3	NM_004119,p.E218K|ENST00000380987,p.E218K|ENST00000380982,p.E218K|uc010tdn.2,p.E218K|uc001urw.3,p.E218K|ENST00000241453,p.E218K|ENST00000537084,p.E218K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tdn.2	nonsynonymous SNV	exon6	c.G652A	p.E218K	CKEESPAVVKKEEKVLHELFGTDIR	CKEESPAVVKKEKKVLHELFGTDIR	1.0	9.0	unscreened	-	3919_13:28624322-28624322 C>T_CKEESPAVVKKEKKVLHELFGTDIR
2:96781416-96781416 G>A	0.0	3919	MELANOMA	-	-	ID=COSM722857,COSM722856;OCCURENCE=1(lung)	-	ADRA2B	uc021vlh.1,p.P158L|ENST00000409345,p.P158L|NM_000682,p.P158L	protein_coding	uc021vlh.1	nonsynonymous SNV	exon1	c.C473T	p.P158L	PPLIYKGDQGPQPRGRPQCKLNQEA	PPLIYKGDQGPQLRGRPQCKLNQEA	1.0	5.0	unscreened	-	3919_2:96781416-96781416 G>A_PPLIYKGDQGPQLRGRPQCKLNQEA
19:22499259-22499259 C>T	0.0	3919	MELANOMA	-	-	-	-	ZNF729	ENST00000601693,p.H1014Y|ENST00000357491,p.H986Y|NM_001242680,p.H1014Y|uc021urs.1,p.H1014Y	protein_coding	uc021urs.1	nonsynonymous SNV	exon4	c.C3040T	p.H1014Y	NNSSTLKKHKLIHTREKLYKCEECV	NNSSTLKKHKLIYTREKLYKCEECV	1.0	6.0	unscreened	-	3919_19:22499259-22499259 C>T_NNSSTLKKHKLIYTREKLYKCEECV
4:122250561-122250561 C>T	0.0	3919	MELANOMA	-	-	-	-	QRFPR	NM_198179,p.E402K|uc010inj.1,p.E402K|ENST00000394427,p.E402K	retained_intron, protein_coding, nonsense_mediated_decay	uc010inj.1	nonsynonymous SNV	exon6	c.G1204A	p.E402K	AFSDGNIEVKLCEQTEEKKKLKRHL	AFSDGNIEVKLCKQTEEKKKLKRHL	1.0	9.0	unscreened	-	3919_4:122250561-122250561 C>T_AFSDGNIEVKLCKQTEEKKKLKRHL
X:30695558-30695558 A>C	1.0	3919	MELANOMA	-	-	-	-	GK	ENST00000378941,p.Y109S	protein_coding, nonsense_mediated_decay	ENST00000378941	nonsynonymous SNV	exon4	c.A326C	p.Y109S	TVVWDKITGEPLYNAVDCLTNE	TVVWDKITGEPLSNAVDCLTNE	4.0	4.0	-	-	3919_X:30695558-30695558 A>C_TVVWDKITGEPLSNAVDCLTNE
11:92523361-92523361 G>A	0.0	3919	MELANOMA	-	-	-	2	FAT3	uc001pdj.4,p.D1530N|NM_001008781,p.D1530N|ENST00000298047,p.D1530N|ENST00000409404,p.D1530N|ENST00000525166,p.D1380N	retained_intron, protein_coding, processed_transcript	uc001pdj.4	nonsynonymous SNV	exon7	c.G4588A	p.D1530N	LYTAERLDHEAQDKHILNIMVRDQE	LYTAERLDHEAQNKHILNIMVRDQE	1.0	9.0	-	-	3919_11:92523361-92523361 G>A_LYTAERLDHEAQNKHILNIMVRDQE
6:85446545-85446545 C>T	0.0	3919	MELANOMA	-	-	-	-	TBX18	ENST00000369663,p.G561E|NM_001080508,p.G561E|uc003pkl.2,p.G561E	protein_coding	uc003pkl.2	nonsynonymous SNV	exon8	c.G1682A	p.G561E	SSQGSFLGSSPSGTMTDRQMLPPVE	SSQGSFLGSSPSETMTDRQMLPPVE	1.0	3.0	-	-	3919_6:85446545-85446545 C>T_SSQGSFLGSSPSETMTDRQMLPPVE
1:54678231-54678231 C>A	1.0	3919	MELANOMA	-	-	-	-	MRPL37	ENST00000360840,p.A297D|ENST00000336230,p.A166D|uc009vzp.3,p.A166D|ENST00000605337,p.A297D|NM_016491,p.A297D|uc001cxa.4,p.A297D	protein_coding, processed_transcript	uc009vzp.3	nonsynonymous SNV	exon3	c.C497A	p.A166D	YPYPHTLYLLDKANLRPHRLQPDQL	YPYPHTLYLLDKDNLRPHRLQPDQL	9.0	2.0	unscreened	-	3919_1:54678231-54678231 C>A_YPYPHTLYLLDKDNLRPHRLQPDQL
10:14816473-14816473 G>C	0.0	3919	MELANOMA	-	-	-	-	FAM107B	uc001ina.1,p.P64A|ENST00000487335,p.P64A|ENST00000181796,p.P64A|NM_031453,p.P64A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ina.1	nonsynonymous SNV	exon1	c.C190G	p.P64A	VRVQPVAKAGRQPRHPSAEGAPEKR	VRVQPVAKAGRQARHPSAEGAPEKR	6.0	3.0	-	-	3919_10:14816473-14816473 G>C_VRVQPVAKAGRQARHPSAEGAPEKR
1:153315598-153315598 G>A	0.0	3919	MELANOMA	-	-	-	-	PGLYRP4	NM_020393,p.S147F|uc001fbp.3,p.S143F|ENST00000359650,p.S147F|uc001fbo.3,p.S147F|ENST00000368739,p.S143F	protein_coding, processed_transcript	uc001fbp.3	nonsynonymous SNV	exon5	c.C428T	p.S143F	IQGVHTQGYNNISLGFAFFGTKKGH	IQGVHTQGYNNIFLGFAFFGTKKGH	1.0	6.0	unscreened	-	3919_1:153315598-153315598 G>A_IQGVHTQGYNNIFLGFAFFGTKKGH
6:133783793-133783793 G>T	1.0	3919	MELANOMA	-	-	ID=COSM396169;OCCURENCE=1(lung)	-	EYA4	NM_172105,p.E205D|ENST00000355286,p.E182D|ENST00000355167,p.E205D|ENST00000430974,p.E151D|ENST00000367895,p.E205D|NM_004100,p.E205D|uc011ecr.2,p.E151D|uc003qed.4,p.E205D|uc011ecq.2,p.E151D|uc003qee.4,p.E182D|ENST00000531901,p.E205D|ENST00000431403,p.E205D|NM_001301013,p.E205D|ENST00000525849,p.E182D|NM_172103,p.E182D|NM_001301012,p.E151D|ENST00000452339,p.E151D|uc011ecs.2,p.E205D|uc003qec.4,p.E205D	retained_intron, protein_coding, processed_transcript	uc011ecs.2	nonsynonymous SNV	exon9	c.G615T	p.E205D	YDLGVMLPAIKTESGLSQTQSPLQS	YDLGVMLPAIKTDSGLSQTQSPLQS	7.0	8.0	unscreened	-	3919_6:133783793-133783793 G>T_YDLGVMLPAIKTDSGLSQTQSPLQS
15:73624521-73624521 A>C	0.0	3919	MELANOMA	-	-	-	-	HCN4	ENST00000261917,p.M441R|NM_005477,p.M441R|uc002avp.3,p.M441R	protein_coding	uc002avp.3	nonsynonymous SNV	exon3	c.T1322G	p.M441R	CHWDGCLQFLVPMLQDFPDDCWVSI	CHWDGCLQFLVPRLQDFPDDCWVSI	1.0	9.0	unscreened	-	3919_15:73624521-73624521 A>C_CHWDGCLQFLVPRLQDFPDDCWVSI
19:11917641-11917641 A>T	1.0	3919	MELANOMA	-	-	-	-	ZNF491	uc002mso.1,p.R291S|NM_152356,p.R291S|ENST00000323169,p.R291S|uc021upj.1,p.R291S	protein_coding, processed_transcript	uc021upj.1	nonsynonymous SNV	exon1	c.A873T	p.R291S	AFYSPSSFQRHERSHTGEKPYKCKQ	AFYSPSSFQRHESSHTGEKPYKCKQ	1.0	5.0	unscreened	-	3919_19:11917641-11917641 A>T_AFYSPSSFQRHESSHTGEKPYKCKQ
19:43922104-43922104 C>T	0.0	3919	MELANOMA	-	-	-	-	TEX101	NM_031451,p.P174S|uc010xwo.2,p.P156S|ENST00000602198,p.P174S|ENST00000253435,p.P174S|uc002owk.3,p.P174S|NM_001130011,p.P156S|ENST00000598265,p.P156S	protein_coding, processed_transcript	uc010xwo.2	nonsynonymous SNV	exon5	c.C466T	p.P156S	VALGTCFSAPSLPCPNGTTRCYQGK	VALGTCFSAPSLSCPNGTTRCYQGK	1.0	8.0	unscreened	-	3919_19:43922104-43922104 C>T_VALGTCFSAPSLSCPNGTTRCYQGK
3:189455644-189455644 G>A	0.0	3919	MELANOMA	-	-	-	1	TP63	uc003frz.2,p.D60N|uc010hzc.1,p.D60N|uc003frx.2,p.D60N|ENST00000264731,p.D60N|ENST00000418709,p.D60N|ENST00000320472,p.D60N|ENST00000382063,p.D60N|NM_003722,p.D60N|ENST00000392460,p.D60N|uc003fry.2,p.D60N|ENST00000440651,p.D60N|NM_001114979,p.D60N|NM_001114978,p.D60N	retained_intron, protein_coding	uc010hzc.1	nonsynonymous SNV	exon2	c.G178A	p.D60N	EFLSPEVFQHIWDFLEQPICSVQPI	EFLSPEVFQHIWNFLEQPICSVQPI	1.0	7.0	-	-	3919_3:189455644-189455644 G>A_EFLSPEVFQHIWNFLEQPICSVQPI
19:17918830-17918830 G>A	0.0	3919	MELANOMA	-	-	-	-	B3GNT3	ENST00000318683,p.D72N|uc002nhl.1,p.D72N|ENST00000600777,p.D72N|ENST00000595387,p.D72N|uc010ebd.1,p.D72N|NM_014256,p.D72N|uc010ebe.1,p.D72N|ENST00000599265,p.D72N	protein_coding	uc010ebe.1	nonsynonymous SNV	exon2	c.G214A	p.D72N	PCHANTSMVTHPDFATQPQHVQNFL	PCHANTSMVTHPNFATQPQHVQNFL	1.0	5.0	unscreened	-	3919_19:17918830-17918830 G>A_PCHANTSMVTHPNFATQPQHVQNFL
22:32914228-32914228 G>A	0.0	3919	MELANOMA	-	-	-	-	SYN3	uc003amx.3,p.P471L|NM_003490,p.P471L|ENST00000358763,p.P471L|ENST00000332840,p.P471L|uc011amc.1,p.P105L|NM_001135774,p.P470L|uc003amz.3,p.P470L	retained_intron, protein_coding, processed_transcript	uc011amc.1	nonsynonymous SNV	exon4	c.C314T	p.P105L	QRLSPQGQQPLSPQSGSPQQQRSPG	QRLSPQGQQPLSLQSGSPQQQRSPG	10.0	1.0	unscreened	-	3919_22:32914228-32914228 G>A_QRLSPQGQQPLSLQSGSPQQQRSPG
1:86377097-86377097 C>T	1.0	3919	MELANOMA	-	-	-	-	COL24A1	ENST00000436319,p.G861E|NM_152890,p.G861E|uc010osd.2,p.G161E|uc001dlj.3,p.G861E|ENST00000370571,p.G861E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010osd.2	nonsynonymous SNV	exon25	c.G482A	p.G161E	GKIGETGPVGLPGEVGMTGSIGEKG	GKIGETGPVGLPEEVGMTGSIGEKG	1.0	9.0	unscreened	-	3919_1:86377097-86377097 C>T_GKIGETGPVGLPEEVGMTGSIGEKG
4:90169386-90169386 G>A	1.0	3919	MELANOMA	-	-	ID=COSM1058898;OCCURENCE=1(endometrium)	-	GPRIN3	NM_198281,p.R626C|uc021xqb.1,p.R626C|uc003hsm.1,p.R626C|ENST00000333209,p.R626C	protein_coding	uc021xqb.1	nonsynonymous SNV	exon1	c.C1876T	p.R626C	DSSPGSGKKTPSRSVKASPRRPSRV	DSSPGSGKKTPSCSVKASPRRPSRV	5.0	9.0	unscreened	-	3919_4:90169386-90169386 G>A_DSSPGSGKKTPSCSVKASPRRPSRV
3:46399034-46399034 C>T	0.0	3919	MELANOMA	-	-	ID=COSM446581,COSM1485219;OCCURENCE=1(breast)	-	CCR2	uc003cpm.4,p.R6C|NM_001123041,p.R6C|ENST00000421659,p.R6C|ENST00000292301,p.R6C|ENST00000400888,p.R6C|ENST00000445132,p.R6C|uc003cpn.4,p.R6C|NM_001123396,p.R6C|uc021wxa.1,p.R6C	protein_coding, processed_transcript	uc021wxa.1	nonsynonymous SNV	exon1	c.C16T	p.R6C	MLSTSRSRFIRNTNESGE	MLSTSCSRFIRNTNESGE	3.0	8.0	unscreened	-	3919_3:46399034-46399034 C>T_MLSTSCSRFIRNTNESGE
19:50771580-50771580 C>T	1.0	3919	MELANOMA	-	-	ID=COSM440038,COSM440037;OCCURENCE=1(breast)	-	MYH14	ENST00000425460,p.R964C|NM_001077186,p.R964C|ENST00000262269,p.R997C|ENST00000601313,p.R997C|ENST00000440075,p.R997C|uc010enu.1,p.R997C|NM_024729,p.R956C|uc002prq.1,p.R964C|ENST00000599920,p.R964C|NM_001145809,p.R997C|ENST00000598205,p.R964C|ENST00000376970,p.R989C|uc002prr.1,p.R956C|ENST00000596571,p.R956C	retained_intron, protein_coding	uc010enu.1	nonsynonymous SNV	exon24	c.C2989T	p.R997C	LEARVGEEEECSRQMQTEKKRLQQH	LEARVGEEEECSCQMQTEKKRLQQH	10.0	8.0	-	-	3919_19:50771580-50771580 C>T_LEARVGEEEECSCQMQTEKKRLQQH
14:20389635-20389635 G>T	0.0	3919	MELANOMA	-	-	-	-	OR4K5	ENST00000315915,p.R290S|uc010tkw.2,p.R290S|NM_001005483,p.R290S	protein_coding	uc010tkw.2	nonsynonymous SNV	exon1	c.G870T	p.R290S	FTPVLNPIIYTLRNRDMKAAVRKIV	FTPVLNPIIYTLSNRDMKAAVRKIV	1.0	1.0	unscreened	-	3919_14:20389635-20389635 G>T_FTPVLNPIIYTLSNRDMKAAVRKIV
3:24169224-24169224 G>A	1.0	3919	MELANOMA	-	-	-	-	THRB	ENST00000280696,p.L319F|NM_000461,p.L304F|uc003ccy.4,p.L304F|NM_001252634,p.L304F|NM_001128177,p.L304F|ENST00000416420,p.L304F|uc003ccz.4,p.L304F|NM_001128176,p.L304F|uc010hfe.3,p.L304F|ENST00000396671,p.L304F|uc003ccx.4,p.L304F|ENST00000356447,p.L304F	protein_coding	uc010hfe.3	nonsynonymous SNV	exon10	c.C910T	p.L304F	MFCELPCEDQIILLKGCCMEIMSLR	MFCELPCEDQIIFLKGCCMEIMSLR	1.0	8.0	unscreened	-	3919_3:24169224-24169224 G>A_MFCELPCEDQIIFLKGCCMEIMSLR
10:117884963-117884963 G>C	0.0	3919	MELANOMA	-	-	-	-	GFRA1	ENST00000544592,p.T59S|uc001lci.3,p.T175S|ENST00000355422,p.T180S|uc001lcj.3,p.T180S|ENST00000439649,p.T175S|uc009xyr.3,p.T175S|NM_001145453,p.T175S|NM_145793,p.T175S|NM_005264,p.T180S|ENST00000369236,p.T175S|ENST00000369234,p.T180S	protein_coding, processed_transcript	uc009xyr.3	nonsynonymous SNV	exon5	c.C524G	p.T175S	KKYRSAYITPCTTSVSNDVCNRRKC	KKYRSAYITPCTSSVSNDVCNRRKC	1.0	4.0	unscreened	-	3919_10:117884963-117884963 G>C_KKYRSAYITPCTSSVSNDVCNRRKC
19:10685651-10685651 C>T	0.0	3919	MELANOMA	-	-	-	-	AP1M2	ENST00000587069,p.E58K|ENST00000590923,p.E370K|uc002mpd.3,p.E370K|uc002mpc.3,p.E368K|ENST00000592285,p.E44K|NM_001300887,p.E370K|ENST00000250244,p.E368K|NM_005498,p.E368K	retained_intron, protein_coding, nonsense_mediated_decay	uc002mpd.3	nonsynonymous SNV	exon10	c.G1108A	p.E370K	MRAHFGLPSVEKEEVEGRPPIGVKF	MRAHFGLPSVEKKEVEGRPPIGVKF	1.0	4.0	unscreened	-	3919_19:10685651-10685651 C>T_MRAHFGLPSVEKKEVEGRPPIGVKF
19:42126966-42126966 G>T	0.0	3919	MELANOMA	-	-	-	-	CEACAM4	ENST00000600925,p.P191T|uc010xwd.1,p.P191T	retained_intron, protein_coding	uc010xwd.1	nonsynonymous SNV	exon4	c.C571A	p.P191T	TGSIQRDLREQPPPASTPGHGPSHR	TGSIQRDLREQPTPASTPGHGPSHR	1.0	2.0	unscreened	-	3919_19:42126966-42126966 G>T_TGSIQRDLREQPTPASTPGHGPSHR
19:42126966-42126966 G>T	0.0	3919	MELANOMA	-	-	-	-	CEACAM4	ENST00000221954,p.P193T|NM_001817,p.P193T|uc002orh.1,p.P193T	retained_intron, protein_coding	uc002orh.1	nonsynonymous SNV	exon4	c.C577A	p.P193T	RASIQRDLREQPPPASTPGHGPSHR	RASIQRDLREQPTPASTPGHGPSHR	1.0	2.0	unscreened	-	3919_19:42126966-42126966 G>T_RASIQRDLREQPTPASTPGHGPSHR
2:131519931-131519931 G>A	0.0	3919	MELANOMA	-	-	-	-	AMER3	NM_001105195,p.D96N|NM_001105194,p.D96N|uc010fmu.1,p.D96N|ENST00000423981,p.D96N|NM_152698,p.D96N|uc010fmv.2,p.D96N|uc010fmt.1,p.D96N|ENST00000431758,p.D96N|ENST00000458606,p.D96N|uc021voy.1,p.D96N|uc002trw.2,p.D96N|ENST00000321420,p.D96N|NM_001105193,p.D96N|uc010fms.1,p.D96N	protein_coding	uc021voy.1	nonsynonymous SNV	exon1	c.G286A	p.D96N	ATFKPVRKCKTHDSMSGAGRATAAT	ATFKPVRKCKTHNSMSGAGRATAAT	1.0	5.0	unscreened	-	3919_2:131519931-131519931 G>A_ATFKPVRKCKTHNSMSGAGRATAAT
3:42251393-42251393 G>A	1.0	3919	MELANOMA	-	-	ID=COSM169944,COSM169945;OCCURENCE=2(large_intestine)	-	TRAK1	uc011azi.3,p.D627N	protein_coding, processed_transcript, nonsense_mediated_decay	uc011azi.3	nonsynonymous SNV	exon14	c.G1879A	p.D627N	LDVDLDEVYCLNDFEEDDTAHHPGK	LDVDLDEVYCLNNFEEDDTAHHPGK	9.0	4.0	unscreened	-	3919_3:42251393-42251393 G>A_LDVDLDEVYCLNNFEEDDTAHHPGK
2:234621933-234621933 C>T	0.0	3919	MELANOMA	-	-	-	-	UGT1A5	NM_019078,p.S99L|ENST00000373414,p.S99L|uc010zmz.1,p.S99L|uc002vuw.3,p.S99L	protein_coding	uc010zmz.1	nonsynonymous SNV	exon1	c.C296T	p.S99L	DEFDRLLLGHTQSFFETEHLLMKFS	DEFDRLLLGHTQLFFETEHLLMKFS	1.0	7.0	unscreened	-	3919_2:234621933-234621933 C>T_DEFDRLLLGHTQLFFETEHLLMKFS
5:121758802-121758802 G>A	0.0	3919	MELANOMA	-	-	-	-	SNCAIP	ENST00000379536,p.D124N|ENST00000261367,p.D171N|uc003ksx.1,p.D171N|ENST00000503116,p.D171N|ENST00000509154,p.D124N|ENST00000395469,p.D171N|uc010jct.3,p.D124N|NM_005460,p.D124N|uc010jcx.1,p.D124N|ENST00000261368,p.D124N|ENST00000379533,p.D171N|uc003ksw.1,p.D124N	retained_intron, protein_coding, nonsense_mediated_decay	uc010jcx.1	nonsynonymous SNV	exon3	c.G370A	p.D124N	DLGPQPQELGPGDGVGGPPGKSSEP	DLGPQPQELGPGNGVGGPPGKSSEP	1.0	9.0	unscreened	-	3919_5:121758802-121758802 G>A_DLGPQPQELGPGNGVGGPPGKSSEP
1:119965160-119965160 G>A	0.0	3919	MELANOMA	-	-	-	-	HSD3B2	NM_000198,p.E346K|uc001ehs.3,p.E346K|NM_001166120,p.E346K|uc021ost.1,p.E346K|uc001eht.3,p.E346K|ENST00000369416,p.E346K|ENST00000543831,p.E346K	protein_coding, processed_transcript	uc021ost.1	nonsynonymous SNV	exon4	c.G1036A	p.E346K	QRDLAYKPLYSWEEAKQKTVEWVGS	QRDLAYKPLYSWKEAKQKTVEWVGS	2.0	7.0	unscreened	-	3919_1:119965160-119965160 G>A_QRDLAYKPLYSWKEAKQKTVEWVGS
7:57193771-57193771 T>G	0.0	3919	MELANOMA	-	-	-	2	ZNF479	ENST00000331162,p.K72N|NM_033273,p.K72N|uc010kzo.3,p.K72N	protein_coding	uc010kzo.3	nonsynonymous SNV	exon4	c.A216C	p.K72N	SKPDLITCLEQNKESQNIKRNEMVA	SKPDLITCLEQNNESQNIKRNEMVA	1.0	1.0	unscreened	-	3919_7:57193771-57193771 T>G_SKPDLITCLEQNNESQNIKRNEMVA
4:156716498-156716498 G>T	0.0	3919	MELANOMA	-	-	-	-	GUCY1B3	NM_001291954,p.Q244H|ENST00000513437,p.Q176H|uc010iqf.3,p.Q244H|uc011cio.2,p.Q266H|uc011cip.2,p.Q224H|NM_000857,p.Q244H|ENST00000507146,p.Q176H|NM_001291955,p.Q176H|uc010iqg.3,p.Q172H|ENST00000505764,p.Q224H|NM_001291952,p.Q224H|ENST00000503520,p.Q244H|ENST00000502959,p.Q266H|uc003ipd.3,p.Q172H|uc011ciq.2,p.Q172H|NM_001291951,p.Q266H|uc003ipc.3,p.Q244H|ENST00000264424,p.Q244H|NM_001291953,p.Q176H|ENST00000505154,p.Q176H	protein_coding	uc011ciq.2	nonsynonymous SNV	exon7	c.G516T	p.Q172H	CGNAIYRVLPQLQPGNCSLLSVFSL	CGNAIYRVLPQLHPGNCSLLSVFSL	2.0	9.0	unscreened	-	3919_4:156716498-156716498 G>T_CGNAIYRVLPQLHPGNCSLLSVFSL
11:118984565-118984565 G>A	1.0	3919	MELANOMA	-	-	-	-	C2CD2L	NM_001290474,p.R497Q|ENST00000528586,p.R245Q|uc001pvo.3,p.R497Q	retained_intron, protein_coding, processed_transcript	uc001pvo.3	nonsynonymous SNV	exon12	c.G1490A	p.R497Q	SSGPSNTSHSSSRDSHLSNGLDPVA	SSGPSNTSHSSSQDSHLSNGLDPVA	8.0	2.0	unscreened	-	3919_11:118984565-118984565 G>A_SSGPSNTSHSSSQDSHLSNGLDPVA
16:1634380-1634380 G>A	1.0	3919	MELANOMA	-	-	-	-	IFT140	ENST00000397417,p.L124F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000397417	nonsynonymous SNV	exon4	c.C370T	p.L124F	FQEEPAGSEQRHLRGHPQRAGHVVT	FQEEPAGSEQRHFRGHPQRAGHVVT	5.0	4.0	unscreened	-	3919_16:1634380-1634380 G>A_FQEEPAGSEQRHFRGHPQRAGHVVT
13:84455215-84455215 C>T	0.0	3919	MELANOMA	-	-	-	-	SLITRK1	uc001vlk.3,p.R143Q|ENST00000377084,p.R143Q|NM_052910,p.R143Q|NM_001281503,p.R143Q	protein_coding	uc001vlk.3	nonsynonymous SNV	exon1	c.G428A	p.R143Q	DLEYLQADFNLLRDIDPGAFQDLNK	DLEYLQADFNLLQDIDPGAFQDLNK	1.0	9.0	unscreened	-	3919_13:84455215-84455215 C>T_DLEYLQADFNLLQDIDPGAFQDLNK
7:100374146-100374146 G>A	0.0	3919	MELANOMA	-	-	-	-	ZAN	ENST00000546292,p.E2092K|ENST00000546213,p.E603K|uc011kke.2,p.E180K|ENST00000538115,p.E2092K|ENST00000542585,p.E2092K	protein_coding, polymorphic_pseudogene	uc011kke.2	nonsynonymous SNV	exon4	c.G538A	p.E180K	MMPSDEVANSDSEFVNSWKDKDIDP	MMPSDEVANSDSKFVNSWKDKDIDP	1.0	5.0	unscreened	-	3919_7:100374146-100374146 G>A_MMPSDEVANSDSKFVNSWKDKDIDP
22:25334154-25334154 C>T	0.0	3919	MELANOMA	-	-	ID=COSM1714214,COSM1714213;OCCURENCE=1(skin)	-	TMEM211	ENST00000407886,p.R30K|NM_001001663,p.R30K|uc003abk.1,p.R30K|ENST00000423535,p.R101K|ENST00000382744,p.R30K	protein_coding	uc003abk.1	nonsynonymous SNV	exon2	c.G89A	p.R30K	SWAVAPKGLCPRRSSVPMPGVQAVA	SWAVAPKGLCPRKSSVPMPGVQAVA	1.0	4.0	unscreened	-	3919_22:25334154-25334154 C>T_SWAVAPKGLCPRKSSVPMPGVQAVA
3:48611721-48611721 C>T	0.0	3919	MELANOMA	-	-	-	-	COL7A1	ENST00000328333,p.G2159S|NM_000094,p.G2159S|ENST00000454817,p.G2127S|uc003ctz.2,p.G2159S	retained_intron, protein_coding, processed_transcript	uc003ctz.2	nonsynonymous SNV	exon79	c.G6475A	p.G2159S	GQDGNPGLPGERGMAGPEGKPGLQG	GQDGNPGLPGERSMAGPEGKPGLQG	3.0	5.0	-	-	3919_3:48611721-48611721 C>T_GQDGNPGLPGERSMAGPEGKPGLQG
10:73485207-73485207 G>A	0.0	3919	MELANOMA	-	-	-	-	CDH23	uc001jrx.4,p.R1168Q|uc001jrz.3,p.R1168Q	protein_coding, processed_transcript	uc001jrz.3	nonsynonymous SNV	exon29	c.G3503A	p.R1168Q	NGLLMRGPRPLDRERNSSHVLIVEA	NGLLMRGPRPLDQERNSSHVLIVEA	3.0	2.0	unscreened	-	3919_10:73485207-73485207 G>A_NGLLMRGPRPLDQERNSSHVLIVEA
19:54466400-54466400 G>A	0.0	3919	MELANOMA	-	-	-	-	CACNG8	ENST00000270458,p.E2K	protein_coding	ENST00000270458	nonsynonymous SNV	exon1	c.G4A	p.E2K	LESLKRWNEERGLW	LKSLKRWNEERGLW	1.0	8.0	unscreened	-	3919_19:54466400-54466400 G>A_LKSLKRWNEERGLW
19:54466400-54466400 G>A	0.0	3919	MELANOMA	-	-	-	-	CACNG8	uc002qcs.2,p.E2K|NM_031895,p.E2K	protein_coding	uc002qcs.2	nonsynonymous SNV	exon1	c.G4A	p.E2K	MESLKRWNEERGLW	MKSLKRWNEERGLW	1.0	8.0	unscreened	-	3919_19:54466400-54466400 G>A_MKSLKRWNEERGLW
17:48272975-48272975 G>A	0.0	3919	MELANOMA	-	-	-	1	COL1A1	ENST00000225964,p.R370C|NM_000088,p.R370C|uc002iqm.3,p.R370C	retained_intron, protein_coding	uc002iqm.3	nonsynonymous SNV	exon17	c.C1108T	p.R370C	QGPRGSEGPQGVRGEPGPPGPAGAA	QGPRGSEGPQGVCGEPGPPGPAGAA	5.0	1.0	unscreened	-	3919_17:48272975-48272975 G>A_QGPRGSEGPQGVCGEPGPPGPAGAA
6:46216633-46216633 C>T	1.0	3919	MELANOMA	-	-	ID=COSM222103;OCCURENCE=1(skin)	-	RCAN2	NM_005822,p.E30K|ENST00000330430,p.E30K|uc003oyb.2,p.E30K	protein_coding	uc003oyb.2	nonsynonymous SNV	exon2	c.G88A	p.E30K	VDVEVFTNQEVKEKFEGLFRTYDDC	VDVEVFTNQEVKKKFEGLFRTYDDC	2.0	5.0	unscreened	-	3919_6:46216633-46216633 C>T_VDVEVFTNQEVKKKFEGLFRTYDDC
7:31126071-31126071 G>A	0.0	3919	MELANOMA	-	-	-	-	ADCYAP1R1	ENST00000304166,p.G248D|NM_001118,p.G248D|uc003tcg.3,p.G248D|ENST00000396211,p.G248D|uc003tce.2,p.G248D|NM_001199637,p.G227D|NM_001199635,p.G248D|uc003tcc.2,p.G248D|ENST00000409363,p.G227D|ENST00000409489,p.G248D|uc003tca.2,p.G248D|uc003tcb.2,p.G227D|NM_001199636,p.G248D	protein_coding	uc003tcg.3	nonsynonymous SNV	exon10	c.G743A	p.G248D	CVVSNYFWLFIEGLYLFTLLVETFF	CVVSNYFWLFIEDLYLFTLLVETFF	1.0	6.0	unscreened	-	3919_7:31126071-31126071 G>A_CVVSNYFWLFIEDLYLFTLLVETFF
X:47028728-47028728 A>G	1.0	3919	MELANOMA	-	-	-	1	RBM10	uc004dhe.2,p.T9A	protein_coding, processed_transcript	uc004dhe.2	nonsynonymous SNV	exon3	c.A25G	p.T9A	MKDVVVVVTGLAAMEPLTARR	MKDVVVVVAGLAAMEPLTARR	7.0	5.0	unscreened	-	3919_X:47028728-47028728 A>G_MKDVVVVVAGLAAMEPLTARR
11:71850855-71850855 C>T	0.0	3919	MELANOMA	-	-	-	-	FOLR3	ENST00000456237,p.R282C|ENST00000442948,p.R239C|uc001ory.1,p.R282C|ENST00000445078,p.R280C	retained_intron, protein_coding, nonsense_mediated_decay	uc001ory.1	nonsynonymous SNV	exon5	c.C844T	p.R282C	FYAAAMNAGAPSRGIIDS	FYAAAMNAGAPSCGIIDS	1.0	9.0	-	-	3919_11:71850855-71850855 C>T_FYAAAMNAGAPSCGIIDS
3:130852674-130852674 G>A	0.0	3919	MELANOMA	-	-	-	-	NEK11	ENST00000412440,p.G26E|ENST00000510769,p.G174E|uc010hto.2,p.G26E|uc011blm.2,p.G174E|ENST00000510688,p.G174E|uc011blk.2,p.G26E|ENST00000383366,p.G174E|uc003enw.1,p.G174E|uc003eoa.3,p.G174E|NM_024800,p.G174E|ENST00000508196,p.G174E|ENST00000429253,p.G174E|uc003enx.3,p.G174E|ENST00000511262,p.G174E|uc003eny.3,p.G174E|uc011bll.2,p.G174E|ENST00000507910,p.G174E|ENST00000356918,p.G174E|NM_145910,p.G174E|NM_001146003,p.G174E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011blm.2	nonsynonymous SNV	exon6	c.G521A	p.G174E	KNVFLKNNLLKIGDFGVSRLLMGSC	KNVFLKNNLLKIEDFGVSRLLMGSC	3.0	4.0	-	-	3919_3:130852674-130852674 G>A_KNVFLKNNLLKIEDFGVSRLLMGSC
15:24922611-24922611 C>T	0.0	3919	MELANOMA	-	-	-	-	NPAP1	ENST00000329468,p.L533F|uc001ywo.3,p.L533F|NM_018958,p.L533F	protein_coding	uc001ywo.3	nonsynonymous SNV	exon1	c.C1597T	p.L533F	VDSPPPLSFLTLLPVPSTGTSVITS	VDSPPPLSFLTLFPVPSTGTSVITS	1.0	2.0	unscreened	-	3919_15:24922611-24922611 C>T_VDSPPPLSFLTLFPVPSTGTSVITS
6:46216633-46216633 C>T	1.0	3919	MELANOMA	-	-	ID=COSM222103;OCCURENCE=1(skin)	-	RCAN2	NM_001251974,p.E76K|uc003oyc.2,p.E76K|ENST00000405162,p.E76K|ENST00000371374,p.E76K|NM_001251973,p.E76K|ENST00000306764,p.E76K|uc003oyd.2,p.E76K	protein_coding	uc003oyd.2	nonsynonymous SNV	exon3	c.G226A	p.E76K	VHQSVFEGEESKEKFEGLFRTYDDC	VHQSVFEGEESKKKFEGLFRTYDDC	2.0	5.0	unscreened	-	3919_6:46216633-46216633 C>T_VHQSVFEGEESKKKFEGLFRTYDDC
8:41530085-41530085 G>A	0.0	3919	MELANOMA	-	-	-	2	ANK1	ENST00000352337,p.S1628L|ENST00000396945,p.S1628L|NM_020475,p.S1628L|uc003xom.3,p.S1669L|NM_020476,p.S1628L|ENST00000289734,p.S1628L|uc003xok.3,p.S1628L|NM_000037,p.S1628L|ENST00000396942,p.S1628L|ENST00000379758,p.S1628L|NM_001142446,p.S1669L|uc003xoi.3,p.S1628L|ENST00000347528,p.S1628L|uc003xoj.3,p.S1628L|ENST00000265709,p.S1669L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xom.3	nonsynonymous SNV	exon39	c.C5006T	p.S1669L	GSLELVEDDTVDSDATNGLIDLLEQ	GSLELVEDDTVDLDATNGLIDLLEQ	2.0	8.0	unscreened	-	3919_8:41530085-41530085 G>A_GSLELVEDDTVDLDATNGLIDLLEQ
8:101074959-101074959 T>G	0.0	3919	MELANOMA	-	-	-	-	RGS22	ENST00000360863,p.K458N|uc003yja.1,p.K277N|NM_001286692,p.K446N|ENST00000523437,p.K446N|uc022azh.1,p.K362N|uc003yjc.1,p.K446N|ENST00000523287,p.K277N|NM_001286693,p.K277N|uc003yjb.1,p.K458N|NM_015668,p.K458N|ENST00000519725,p.K458N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022azh.1	nonsynonymous SNV	exon6	c.A1086C	p.K362N	PGRHQRHLEKMKKCYLVSNGDYYLS	PGRHQRHLEKMKNCYLVSNGDYYLS	1.0	5.0	unscreened	-	3919_8:101074959-101074959 T>G_PGRHQRHLEKMKNCYLVSNGDYYLS
21:15524895-15524895 C>T	0.0	3919	MELANOMA	-	-	-	-	LIPI	uc021whh.1,p.E367K|ENST00000536861,p.E373K|uc021whi.1,p.E208K|uc002yjm.3,p.E394K|uc021whf.1,p.E373K|ENST00000344577,p.E394K|uc010gkw.2,p.E343K|uc021whe.1,p.E338K|NM_198996,p.E394K	protein_coding	uc021whi.1	nonsynonymous SNV	exon6	c.G622A	p.E208K	NQLGMIEEPRLYEKNKPFYKLQEVK	NQLGMIEEPRLYKKNKPFYKLQEVK	1.0	6.0	unscreened	-	3919_21:15524895-15524895 C>T_NQLGMIEEPRLYKKNKPFYKLQEVK
7:82544905-82544905 G>A	0.0	3919	MELANOMA	-	-	-	-	PCLO	uc003uhx.2,p.R4133C|uc003uhv.2,p.R4133C|NM_033026,p.R4133C|ENST00000437081,p.R853C|uc010lec.3,p.R1098C|ENST00000333891,p.R4133C|ENST00000423517,p.R4133C|NM_014510,p.R4133C	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lec.3	nonsynonymous SNV	exon2	c.C3292T	p.R1098C	LKLLKHQIKQEFRRGTESLDHLAGL	LKLLKHQIKQEFCRGTESLDHLAGL	1.0	7.0	unscreened	-	3919_7:82544905-82544905 G>A_LKLLKHQIKQEFCRGTESLDHLAGL
19:14031461-14031461 C>T	1.0	3919	MELANOMA	-	-	-	-	CC2D1A	uc002mxp.2,p.P483L|uc010dzh.2,p.P52L|uc002mxq.1,p.P128L|NM_017721,p.P483L|ENST00000318003,p.P483L|ENST00000589606,p.P483L|uc002mxo.2,p.P483L	retained_intron, protein_coding, nonsense_mediated_decay	uc010dzh.2	nonsynonymous SNV	exon8	c.C155T	p.P52L	PQSGSAPTAKAPPKATSTRAQQQLA	PQSGSAPTAKAPLKATSTRAQQQLA	7.0	3.0	-	-	3919_19:14031461-14031461 C>T_PQSGSAPTAKAPLKATSTRAQQQLA
2:231235639-231235639 C>A	1.0	3919	MELANOMA	-	-	-	-	SP140L	ENST00000444636,p.S180R|uc010fxn.2,p.S93R|ENST00000396563,p.S180R|ENST00000243810,p.S180R|ENST00000458341,p.S93R|uc010fxm.1,p.S180R|ENST00000415673,p.S180R|NM_138402,p.S180R	retained_intron, protein_coding	uc010fxn.2	nonsynonymous SNV	exon5	c.C279A	p.S93R	IKLSLKQGEVPESPEARKESDQACG	IKLSLKQGEVPERPEARKESDQACG	4.0	2.0	unscreened	-	3919_2:231235639-231235639 C>A_IKLSLKQGEVPERPEARKESDQACG
19:23844919-23844919 G>A	1.0	3919	MELANOMA	-	-	-	-	ZNF675	ENST00000596211,p.P75S	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000596211	nonsynonymous SNV	exon3	c.C223T	p.P75S	LTVKRHEMVNEPPGQKQ	LTVKRHEMVNEPSGQKQ	3.0	4.0	unscreened	-	3919_19:23844919-23844919 G>A_LTVKRHEMVNEPSGQKQ
1:238051714-238051714 C>G	0.0	3919	MELANOMA	-	-	-	-	ZP4	uc001hym.3,p.G166A|ENST00000366570,p.G166A|NM_021186,p.G166A	protein_coding	uc001hym.3	nonsynonymous SNV	exon4	c.G497C	p.G166A	CAPSPISRGDCEGLGCCYSSEEVNS	CAPSPISRGDCEALGCCYSSEEVNS	1.0	2.0	unscreened	-	3919_1:238051714-238051714 C>G_CAPSPISRGDCEALGCCYSSEEVNS
5:41381992-41381992 T>C	0.0	3919	MELANOMA	-	-	-	-	PLCXD3	ENST00000328457,p.T250A|uc003jmm.1,p.T250A|ENST00000377801,p.T250A|NM_001005473,p.T250A	protein_coding	uc003jmm.1	nonsynonymous SNV	exon2	c.A748G	p.T250A	KKGSFFISQVVLTPKASTVVKGVAS	KKGSFFISQVVLAPKASTVVKGVAS	1.0	3.0	unscreened	-	3919_5:41381992-41381992 T>C_KKGSFFISQVVLAPKASTVVKGVAS
8:55539774-55539774 C>T	0.0	3919	MELANOMA	-	-	ID=COSM224959;OCCURENCE=1(skin)	-	RP1	ENST00000220676,p.S1111L|uc003xsd.1,p.S1111L|NM_006269,p.S1111L	protein_coding	uc003xsd.1	nonsynonymous SNV	exon4	c.C3332T	p.S1111L	HKTQNGVVQMPGSLAGVPFHSAICN	HKTQNGVVQMPGLLAGVPFHSAICN	1.0	5.0	unscreened	-	3919_8:55539774-55539774 C>T_HKTQNGVVQMPGLLAGVPFHSAICN
1:152749003-152749008 TGGCTC>-	0.0	3919	MELANOMA	-	-	-	-	LCE1F	ENST00000334371,p.52_54del|uc010pdv.2,p.52_54del|NM_178354,p.52_54del	protein_coding	uc010pdv.2	nonframeshift deletion	exon1	c.156_161del	p.52_54del	VSSCCSVSSGGCCGSSSGGCCSSGG	VSSCCSVSSGGCCSSGGCCSSGGGG	1.0	1.0	unscreened	-	3919_1:152749003-152749008 TGGCTC>-_VSSCCSVSSGGCCSSGGCCSSGGGG
1:200586800-200586800 G>A	1.0	3919	MELANOMA	-	-	-	-	KIF14	ENST00000367350,p.P351L|uc010ppk.1,p.P351L|NM_014875,p.P351L	protein_coding	uc010ppk.1	nonsynonymous SNV	exon2	c.C1052T	p.P351L	ETVVQNTSAGKDPLKVENSQVTVAV	ETVVQNTSAGKDLLKVENSQVTVAV	5.0	6.0	-	-	3919_1:200586800-200586800 G>A_ETVVQNTSAGKDLLKVENSQVTVAV
17:72619748-72619748 G>A	0.0	3919	MELANOMA	-	-	ID=COSM3362347,COSM3362348;OCCURENCE=1(kidney)	-	CD300E	ENST00000392619,p.P32S|ENST00000426295,p.P46S	protein_coding	ENST00000426295	nonsynonymous SNV	exon1	c.C136T	p.P46S	DGSQGDRNMWLLPALLLLCLSGCLS	DGSQGDRNMWLLSALLLLCLSGCLS	3.0	3.0	unscreened	-	3919_17:72619748-72619748 G>A_DGSQGDRNMWLLSALLLLCLSGCLS
16:30722159-30722159 G>A	1.0	3919	MELANOMA	-	-	-	-	SRCAP	uc002dze.1,p.E407K|uc021tgn.1,p.E407K|uc002dzg.1,p.E264K|ENST00000395059,p.E407K|ENST00000262518,p.E407K|ENST00000344771,p.E407K|NM_006662,p.E407K|ENST00000380361,p.E388K	retained_intron, protein_coding, nonsense_mediated_decay	uc021tgn.1	nonsynonymous SNV	exon9	c.G1219A	p.E407K	HPDEDDEEFTANEEEAEDEEDTIAA	HPDEDDEEFTANKEEAEDEEDTIAA	9.0	7.0	-	-	3919_16:30722159-30722159 G>A_HPDEDDEEFTANKEEAEDEEDTIAA
19:37487722-37487722 C>T	0.0	3919	MELANOMA	-	-	-	-	ZNF568	ENST00000433993,p.R245C|ENST00000444991,p.R377C|uc010efj.2,p.R181C|uc010efi.2,p.R181C|NM_001204839,p.R313C|ENST00000455427,p.R313C|uc010xtn.2,p.R313C|uc010efg.3,p.R377C|NM_001204838,p.R377C	retained_intron, protein_coding	uc010xtn.2	nonsynonymous SNV	exon9	c.C937T	p.R313C	KPHKCKECGKAFRSSSQISQHQRMH	KPHKCKECGKAFCSSSQISQHQRMH	3.0	8.0	-	-	3919_19:37487722-37487722 C>T_KPHKCKECGKAFCSSSQISQHQRMH
22:22868330-22868330 C>A	0.0	3919	MELANOMA	-	-	-	-	ZNF280A	NM_080740,p.S542I|ENST00000302097,p.S542I|uc002zwe.3,p.S542I|uc021wmo.1,p.S542I	protein_coding	uc021wmo.1	nonsynonymous SNV	exon1	c.G1625T	p.S542I	TRDSRLPCSKDSS	TRDSRLPCSKDSI	2.0	2.0	unscreened	-	3919_22:22868330-22868330 C>A_TRDSRLPCSKDSI
3:39227021-39227021 C>T	0.0	3919	MELANOMA	-	-	-	-	XIRP1	uc021wvz.1,p.G1306R|uc003cjk.2,p.G1306R|ENST00000340369,p.G1306R|NM_194293,p.G1306R	protein_coding	uc021wvz.1	nonsynonymous SNV	exon1	c.G3916A	p.G1306R	SHSSPAGQRTPGGSQTKTPKLDPTM	SHSSPAGQRTPGRSQTKTPKLDPTM	2.0	3.0	unscreened	-	3919_3:39227021-39227021 C>T_SHSSPAGQRTPGRSQTKTPKLDPTM
16:61687807-61687807 G>A	0.0	3919	MELANOMA	-	-	-	-	CDH8	ENST00000299345,p.P702L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000299345	nonsynonymous SNV	exon12	c.C2105T	p.P702L	GINGFLPRKDIKPDLQFMPRLQKRV	GINGFLPRKDIKLDLQFMPRLQKRV	2.0	5.0	unscreened	-	3919_16:61687807-61687807 G>A_GINGFLPRKDIKLDLQFMPRLQKRV
15:43738683-43738683 C>T	0.0	3919	MELANOMA	-	-	-	-	TP53BP1	ENST00000382039,p.G981E|uc001zrr.4,p.G981E|ENST00000450115,p.G981E|uc001zrs.3,p.G976E|NM_001141979,p.G981E|uc001zrq.4,p.G981E|ENST00000263801,p.G976E|ENST00000382044,p.G981E|NM_005657,p.G976E|NM_001141980,p.G981E|ENST00000413546,p.G941E|uc010udq.1,p.G981E|uc010udp.2,p.G976E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010udq.1	nonsynonymous SNV	exon14	c.G2942A	p.G981E	HDPILGSGKGDSGAAPDVDDKLCLR	HDPILGSGKGDSEAAPDVDDKLCLR	8.0	3.0	-	-	3919_15:43738683-43738683 C>T_HDPILGSGKGDSEAAPDVDDKLCLR
11:59283314-59283314 G>A	0.0	3919	MELANOMA	-	-	-	-	OR4D9	ENST00000329328,p.R310K|NM_001004711,p.R310K|uc010rkv.2,p.R310K	protein_coding	uc010rkv.2	nonsynonymous SNV	exon1	c.G929A	p.R310K	MRKLKRRLGQSERILIQ	MRKLKRRLGQSEKILIQ	1.0	3.0	unscreened	-	3919_11:59283314-59283314 G>A_MRKLKRRLGQSEKILIQ
2:21226190-21226190 T>A	0.0	3919	MELANOMA	-	-	-	-	APOB	uc002red.3,p.K4035I|ENST00000233242,p.K4035I|NM_000384,p.K4035I	protein_coding	uc002red.3	nonsynonymous SNV	exon29	c.A12104T	p.K4035I	NFYYSPQSSPDKKLTIFKTELRVRE	NFYYSPQSSPDKILTIFKTELRVRE	1.0	6.0	unscreened	-	3919_2:21226190-21226190 T>A_NFYYSPQSSPDKILTIFKTELRVRE
17:59947106-59947106 G>T	0.0	3919	MELANOMA	-	-	-	-	INTS2	ENST00000444766,p.H1016N|uc002izm.3,p.H1008N|NM_020748,p.H1016N|ENST00000251334,p.H1008N|uc002izn.3,p.H1016N	retained_intron, protein_coding	uc002izn.3	nonsynonymous SNV	exon21	c.C3046A	p.H1016N	MYIADPNIAKLVHFQGYPCELLPLT	MYIADPNIAKLVNFQGYPCELLPLT	5.0	4.0	unscreened	-	3919_17:59947106-59947106 G>T_MYIADPNIAKLVNFQGYPCELLPLT
4:20598082-20598082 C>A	0.0	3919	MELANOMA	-	-	-	-	SLIT2	uc003gps.1,p.T1114N|uc003gpr.1,p.T1122N|ENST00000504154,p.T1122N|ENST00000503823,p.T1114N|NM_001289136,p.T1114N|ENST00000503837,p.T1118N|ENST00000273739,p.T1135N|NM_004787,p.T1122N|NM_001289135,p.T1118N	retained_intron, protein_coding, processed_transcript	uc003gps.1	nonsynonymous SNV	exon31	c.C3341A	p.T1114N	FCEFSPPMVLPRTSPCDNFDCQNGA	FCEFSPPMVLPRNSPCDNFDCQNGA	2.0	2.0	unscreened	-	3919_4:20598082-20598082 C>A_FCEFSPPMVLPRNSPCDNFDCQNGA
1:203134555-203134555 G>A	1.0	3919	MELANOMA	-	-	ID=COSM32889;OCCURENCE=1(large_intestine)	-	ADORA1	uc009xak.1,p.R95Q	protein_coding, processed_transcript	uc009xak.1	nonsynonymous SNV	exon4	c.G284A	p.R95Q	SQRQHGGARDQVRVREGHQHGVHGL	SQRQHGGARDQVQVREGHQHGVHGL	7.0	7.0	unscreened	-	3919_1:203134555-203134555 G>A_SQRQHGGARDQVQVREGHQHGVHGL
22:26388399-26388399 G>A	0.0	3919	MELANOMA	-	-	-	-	MYO18B	uc010guz.1,p.R1956Q|uc003abz.1,p.R2076Q|ENST00000335473,p.R2076Q|uc011aka.1,p.R1230Q|ENST00000407587,p.R2077Q|NM_032608,p.R2076Q|uc003aca.1,p.R1957Q|uc011akb.1,p.R1589Q|uc010guy.1,p.R1958Q|ENST00000536101,p.R2076Q|uc010gva.1,p.R74Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011akb.1	nonsynonymous SNV	exon36	c.G4766A	p.R1589Q	QTLQTDLETSIRRIADLQAALEEVA	QTLQTDLETSIRQIADLQAALEEVA	1.0	4.0	unscreened	-	3919_22:26388399-26388399 G>A_QTLQTDLETSIRQIADLQAALEEVA
19:46823743-46823743 G>A	0.0	3919	MELANOMA	-	-	-	-	HIF3A	uc002peg.4,p.E357K|NM_152795,p.E357K|ENST00000420102,p.E306K|NM_152794,p.E355K|ENST00000339613,p.E301K|uc021uwf.1,p.E301K|NM_022462,p.E288K|uc002peh.3,p.E357K|ENST00000472815,p.E288K|NM_152796,p.E288K|ENST00000244303,p.E288K|ENST00000377670,p.E357K|uc010xxy.2,p.E288K|ENST00000300862,p.E355K|ENST00000600383,p.E288K|uc010xxz.2,p.E306K|uc002pej.2,p.E288K|uc002pel.3,p.E355K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021uwf.1	nonsynonymous SNV	exon9	c.G901A	p.E301K	EETGVVLSLEQTEQHSRRPIQRGAP	EETGVVLSLEQTKQHSRRPIQRGAP	1.0	3.0	unscreened	-	3919_19:46823743-46823743 G>A_EETGVVLSLEQTKQHSRRPIQRGAP
12:49483649-49483649 A>T	0.0	3919	MELANOMA	-	-	-	-	DHH	NM_021044,p.L395Q|uc001rtf.3,p.L395Q|ENST00000266991,p.L395Q	protein_coding	uc001rtf.3	nonsynonymous SNV	exon3	c.T1184A	p.L395Q	YSRLLYRLAEELLG	YSRLLYRLAEELQG	5.0	3.0	unscreened	-	3919_12:49483649-49483649 A>T_YSRLLYRLAEELQG
3:167023534-167023534 G>A	0.0	3919	MELANOMA	-	-	-	-	ZBBX	ENST00000392766,p.P541L|ENST00000307529,p.P541L|NM_001199201,p.P541L|uc011bpc.2,p.P541L|ENST00000455345,p.P541L|ENST00000392767,p.P541L|NM_024687,p.P541L|uc003fep.3,p.P541L|NM_001199202,p.P512L|ENST00000392764,p.P512L|uc003feq.3,p.P512L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bpc.2	nonsynonymous SNV	exon17	c.C1622T	p.P541L	KDTLLGRDLEKAPIEEKLSQDIKES	KDTLLGRDLEKALIEEKLSQDIKES	1.0	3.0	unscreened	-	3919_3:167023534-167023534 G>A_KDTLLGRDLEKALIEEKLSQDIKES
1:65874453-65874453 C>A	0.0	3919	MELANOMA	-	-	-	-	DNAJC6	ENST00000263441,p.P804H|NM_014787,p.P817H|NM_001256865,p.P804H|NM_001256864,p.P874H|ENST00000371069,p.P874H|ENST00000395325,p.P817H|uc001dcd.2,p.P817H|uc010opc.2,p.P804H|uc001dce.2,p.P874H	protein_coding, processed_transcript	uc010opc.2	nonsynonymous SNV	exon18	c.C2411A	p.P804H	EMRKEEMAKEMDPEKLKILEWIEGK	EMRKEEMAKEMDHEKLKILEWIEGK	3.0	3.0	-	-	3919_1:65874453-65874453 C>A_EMRKEEMAKEMDHEKLKILEWIEGK
2:170103470-170103470 G>T	0.0	3919	MELANOMA	-	-	-	-	LRP2	NM_004525,p.H979N|uc002ues.3,p.H979N|uc010zdf.1,p.H842N|ENST00000263816,p.H979N|ENST00000443831,p.H842N	retained_intron, protein_coding, processed_transcript	uc010zdf.1	nonsynonymous SNV	exon19	c.C2524A	p.H842N	IQTGSNACNQPTHPNGDCSHFCFPV	IQTGSNACNQPTNPNGDCSHFCFPV	1.0	2.0	unscreened	-	3919_2:170103470-170103470 G>T_IQTGSNACNQPTNPNGDCSHFCFPV
15:29393929-29393929 G>A	1.0	3919	MELANOMA	-	-	-	-	APBA2	ENST00000561069,p.G489E|ENST00000411764,p.G477E|NM_005503,p.G489E|ENST00000558330,p.G477E|uc010azj.2,p.G477E|NM_001130414,p.G477E|ENST00000558402,p.G489E|uc001zcm.1,p.G181E|uc001zck.3,p.G489E|uc001zcl.3,p.G477E|ENST00000558259,p.G489E|uc010uat.2,p.G477E	retained_intron, protein_coding	uc010uat.2	nonsynonymous SNV	exon10	c.G1430A	p.G477E	RSASQDCIETTPGAQEGKKQYKMIC	RSASQDCIETTPEAQEGKKQYKMIC	6.0	4.0	unscreened	-	3919_15:29393929-29393929 G>A_RSASQDCIETTPEAQEGKKQYKMIC
X:34962020-34962020 G>A	0.0	3919	MELANOMA	-	-	-	-	FAM47B	uc004ddi.2,p.E358K|ENST00000329357,p.E358K|NM_152631,p.E358K	protein_coding	uc004ddi.2	nonsynonymous SNV	exon1	c.G1072A	p.E358K	LQVLKLDSEKKLEDARARCEGQEMT	LQVLKLDSEKKLKDARARCEGQEMT	1.0	8.0	unscreened	-	3919_X:34962020-34962020 G>A_LQVLKLDSEKKLKDARARCEGQEMT
6:117128345-117128345 T>C	0.0	3919	MELANOMA	-	-	-	-	GPRC6A	NM_001286354,p.I175V|uc003pxj.1,p.I175V|uc003pxl.1,p.I175V|ENST00000310357,p.I175V|NM_148963,p.I175V|ENST00000530250,p.I175V|NM_001286355,p.I175V|ENST00000368549,p.I175V|uc003pxk.1,p.I175V	protein_coding	uc003pxl.1	nonsynonymous SNV	exon3	c.A523G	p.I175V	LMPQVGYESTAEILSDKIRFPSFLR	LMPQVGYESTAEVLSDKIRFPSFLR	1.0	4.0	unscreened	-	3919_6:117128345-117128345 T>C_LMPQVGYESTAEVLSDKIRFPSFLR
14:20002242-20002242 C>T	0.0	3919	MELANOMA	-	-	-	-	POTEM	ENST00000547848,p.E394K|NM_001145442,p.E394K|uc001vwc.3,p.E394K|ENST00000551509,p.E394K	protein_coding, nonsense_mediated_decay	uc001vwc.3	nonsynonymous SNV	exon7	c.G1180A	p.E394K	TSEEESQRLKGSENSQPEEMSQEPE	TSEEESQRLKGSKNSQPEEMSQEPE	2.0	2.0	unscreened	-	3919_14:20002242-20002242 C>T_TSEEESQRLKGSKNSQPEEMSQEPE
3:21606118-21606118 C>T	0.0	3919	MELANOMA	0.0005	-	ID=COSM212821;OCCURENCE=1(breast)	-	ZNF385D	ENST00000446749,p.R75Q|uc003cce.3,p.R75Q|NM_024697,p.R75Q|ENST00000281523,p.R75Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc003cce.3	nonsynonymous SNV	exon3	c.G224A	p.R75Q	VINHTFGVPLPHRRKQIISCNICQL	VINHTFGVPLPHQRKQIISCNICQL	1.0	8.0	unscreened	-	3919_3:21606118-21606118 C>T_VINHTFGVPLPHQRKQIISCNICQL
2:3726131-3726131 G>A	0.0	3919	MELANOMA	-	-	-	-	ALLC	uc010ewt.3,p.R53K|ENST00000252505,p.R53K|NM_018436,p.R53K	retained_intron, protein_coding, processed_transcript	uc010ewt.3	nonsynonymous SNV	exon4	c.G158A	p.R53K	EFGKWMDGWETRRKRIPGHDWCVLR	EFGKWMDGWETRKKRIPGHDWCVLR	1.0	7.0	unscreened	-	3919_2:3726131-3726131 G>A_EFGKWMDGWETRKKRIPGHDWCVLR
16:61687807-61687807 G>A	0.0	3919	MELANOMA	-	-	-	-	CDH8	NM_001796,p.P702L|uc002eog.2,p.P702L|ENST00000577390,p.P702L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002eog.2	nonsynonymous SNV	exon12	c.C2105T	p.P702L	GINGFLPRKDIKPDLQFMPRQGLAP	GINGFLPRKDIKLDLQFMPRQGLAP	2.0	5.0	unscreened	-	3919_16:61687807-61687807 G>A_GINGFLPRKDIKLDLQFMPRQGLAP
21:41561001-41561001 C>T	0.0	3919	MELANOMA	-	-	-	-	DSCAM	ENST00000404019,p.E593K|ENST00000400454,p.E841K|uc031rvr.1,p.E841K|NM_001389,p.E841K|uc002yyq.1,p.E841K|NM_001271534,p.E841K	protein_coding	uc031rvr.1	nonsynonymous SNV	exon12	c.G2521A	p.E841K	NPEMARYLVSTKEVGEEVISTLQIL	NPEMARYLVSTKKVGEEVISTLQIL	1.0	7.0	unscreened	-	3919_21:41561001-41561001 C>T_NPEMARYLVSTKKVGEEVISTLQIL
6:54067002-54067002 G>A	0.0	3919	MELANOMA	-	-	-	-	MLIP	ENST00000358276,p.E262K|ENST00000370876,p.E206K|uc003pch.4,p.E206K	protein_coding, processed_transcript	uc003pch.4	nonsynonymous SNV	exon5	c.G616A	p.E206K	EVYEPNPFSKYLEDNSDLFSEQLSH	EVYEPNPFSKYLKDNSDLFSEQLSH	2.0	7.0	unscreened	-	3919_6:54067002-54067002 G>A_EVYEPNPFSKYLKDNSDLFSEQLSH
2:60773160-60773160 C>T	0.0	3919	MELANOMA	-	-	-	1	BCL11A	NM_018014,p.D111N|uc002sac.3,p.D111N|uc002sab.3,p.D111N|uc010fcg.3,p.D111N|ENST00000356842,p.D111N|ENST00000359629,p.D111N|ENST00000335712,p.D111N|uc010ypj.2,p.D111N|uc002sae.1,p.D111N|ENST00000358510,p.D111N|uc002saf.1,p.D111N|NM_022893,p.D111N|ENST00000538214,p.D111N|NM_138559,p.D111N	protein_coding, processed_transcript	uc010ypj.2	nonsynonymous SNV	exon2	c.G331A	p.D111N	VEVGIQVTPEDDDCLSTSSRGICPK	VEVGIQVTPEDDNCLSTSSRGICPK	1.0	8.0	unscreened	-	3919_2:60773160-60773160 C>T_VEVGIQVTPEDDNCLSTSSRGICPK
6:36931694-36931694 C>T	0.0	3919	MELANOMA	-	-	-	-	PI16	uc011dts.1,p.P227S|NM_153370,p.P456S|uc003ona.3,p.P456S|uc003omz.1,p.P263S|uc021yzd.1,p.P456S|NM_001199159,p.P456S|ENST00000373674,p.P456S	protein_coding, processed_transcript	uc021yzd.1	nonsynonymous SNV	exon7	c.C1366T	p.P456S	VWGPLLGLLLLPPLVLAGIF	VWGPLLGLLLLPSLVLAGIF	1.0	4.0	unscreened	-	3919_6:36931694-36931694 C>T_VWGPLLGLLLLPSLVLAGIF
16:71668657-71668657 G>A	0.0	3919	MELANOMA	-	-	-	-	MARVELD3	ENST00000268485,p.R386Q|uc002fat.4,p.R386Q|NM_052858,p.R386Q	protein_coding, processed_transcript	uc002fat.4	nonsynonymous SNV	exon3	c.G1157A	p.R386Q	FALGAVLAIKGYRKVRKLKEKPAEM	FALGAVLAIKGYQKVRKLKEKPAEM	4.0	5.0	unscreened	-	3919_16:71668657-71668657 G>A_FALGAVLAIKGYQKVRKLKEKPAEM
16:7568323-7568323 C>T	0.0	3919	MELANOMA	-	-	-	-	RBFOX1	ENST00000570626,p.P70S|NM_145891,p.P88S|ENST00000552089,p.P104S|ENST00000535565,p.P104S|ENST00000422070,p.P111S|NM_001142334,p.P68S|NM_018723,p.P68S|uc002cyw.2,p.P88S|uc002cyr.1,p.P68S|ENST00000551752,p.P68S|uc010uya.1,p.P104S|NM_145893,p.P88S|uc010uyc.1,p.P88S|uc010uxz.1,p.P111S|ENST00000340209,p.P73S|uc002cyv.1,p.P68S|uc002cys.2,p.P68S|ENST00000553186,p.P68S|ENST00000547372,p.P111S|ENST00000311745,p.P88S|ENST00000436368,p.P88S|uc010uyb.1,p.P68S|uc010buf.1,p.P68S|ENST00000547605,p.P68S|ENST00000547338,p.P68S|NM_145892,p.P88S|ENST00000355637,p.P88S|uc002cyx.2,p.P88S|ENST00000550418,p.P68S|NM_001142333,p.P68S|uc002cyy.2,p.P88S|uc002cyt.2,p.P68S	retained_intron, protein_coding, processed_transcript	uc010uyc.1	nonsynonymous SNV	exon2	c.C262T	p.P88S	TTVPEHTLNLYPPAQTHSEQSPADT	TTVPEHTLNLYPSAQTHSEQSPADT	1.0	4.0	unscreened	-	3919_16:7568323-7568323 C>T_TTVPEHTLNLYPSAQTHSEQSPADT
6:88853598-88853598 C>T	0.0	3919	MELANOMA	-	-	-	-	CNR1	uc011dzs.2,p.D466N|ENST00000428600,p.D466N|NM_016083,p.D466N|uc003pmq.4,p.D466N|ENST00000549716,p.D405N|ENST00000468898,p.D433N|uc010kbz.3,p.D466N|ENST00000537554,p.D466N|uc011dzr.2,p.D466N|uc011dzt.2,p.D466N|ENST00000549890,p.D466N|NM_001160259,p.D466N|ENST00000369499,p.D466N|uc010kca.3,p.D433N|NM_033181,p.D433N|uc021zco.1,p.D466N|ENST00000369501,p.D466N|NM_001160226,p.D466N|ENST00000535130,p.D466N|NM_001160258,p.D466N	protein_coding	uc021zco.1	nonsynonymous SNV	exon1	c.G1396A	p.D466N	VKIAKVTMSVSTDTSAEAL	VKIAKVTMSVSTNTSAEAL	1.0	7.0	unscreened	-	3919_6:88853598-88853598 C>T_VKIAKVTMSVSTNTSAEAL
2:74043372-74043372 G>C	0.0	3919	MELANOMA	-	-	-	-	C2orf78	NM_001080474,p.W674C|ENST00000409561,p.W674C|uc002sjr.1,p.W674C	protein_coding	uc002sjr.1	nonsynonymous SNV	exon3	c.G2022C	p.W674C	TQNRQPFPALKPWLDIQHEGKGPEK	TQNRQPFPALKPCLDIQHEGKGPEK	1.0	3.0	unscreened	-	3919_2:74043372-74043372 G>C_TQNRQPFPALKPCLDIQHEGKGPEK
2:131520444-131520444 G>A	0.0	3919	MELANOMA	-	-	-	-	AMER3	uc010fmv.2,p.E267K|NM_001105194,p.E267K|NM_001105193,p.E267K|NM_001105195,p.E267K|uc021voy.1,p.E267K|NM_152698,p.E267K|uc010fms.1,p.E267K|uc010fmu.1,p.E267K|ENST00000423981,p.E267K|uc010fmt.1,p.E267K|ENST00000321420,p.E267K|uc002trw.2,p.E267K	protein_coding	uc021voy.1	nonsynonymous SNV	exon1	c.G799A	p.E267K	ADESSVPSLELNEGPESPTQAAQGL	ADESSVPSLELNKGPESPTQAAQGL	1.0	8.0	unscreened	-	3919_2:131520444-131520444 G>A_ADESSVPSLELNKGPESPTQAAQGL
6:54067002-54067002 G>A	0.0	3919	MELANOMA	-	-	-	-	MLIP	NM_001281746,p.E886K|uc003pcf.2,p.E886K|ENST00000514921,p.E886K	protein_coding, processed_transcript	uc003pcf.2	nonsynonymous SNV	exon11	c.G2656A	p.E886K	EVYEPNPFSKYLEDNSDLFSEQAAH	EVYEPNPFSKYLKDNSDLFSEQAAH	2.0	7.0	unscreened	-	3919_6:54067002-54067002 G>A_EVYEPNPFSKYLKDNSDLFSEQAAH
6:54067002-54067002 G>A	0.0	3919	MELANOMA	-	-	-	-	MLIP	ENST00000370877,p.E258K|ENST00000509997,p.E216K	protein_coding, processed_transcript	ENST00000509997	nonsynonymous SNV	exon5	c.G646A	p.E216K	EVYEPNPFSKYLEDNSDLFSEQQ	EVYEPNPFSKYLKDNSDLFSEQQ	2.0	7.0	unscreened	-	3919_6:54067002-54067002 G>A_EVYEPNPFSKYLKDNSDLFSEQQ
6:46977205-46977205 C>T	0.0	3919	MELANOMA	-	-	-	-	GPR110	NM_153840,p.V656I|ENST00000283297,p.V459I|uc003oyt.3,p.V656I|uc011dwl.2,p.V344I|ENST00000371253,p.V656I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dwl.2	nonsynonymous SNV	exon9	c.G1030A	p.V344I	GATVDTTVNPSGVCTAAVFFTHFFY	GATVDTTVNPSGICTAAVFFTHFFY	1.0	4.0	unscreened	-	3919_6:46977205-46977205 C>T_GATVDTTVNPSGICTAAVFFTHFFY
19:10419011-10419011 G>A	0.0	3919	MELANOMA	-	-	-	-	ZGLP1	ENST00000403352,p.P32L|NM_001103167,p.P116L|ENST00000403903,p.P116L|uc002mnw.4,p.P116L	retained_intron, protein_coding	uc002mnw.4	nonsynonymous SNV	exon1	c.C347T	p.P116L	TRISQKGRRLQPPGTPSAPPQRRPR	TRISQKGRRLQPLGTPSAPPQRRPR	2.0	7.0	unscreened	-	3919_19:10419011-10419011 G>A_TRISQKGRRLQPLGTPSAPPQRRPR
2:165946875-165946875 C>T	0.0	3919	MELANOMA	-	-	-	-	SCN3A	NM_001081677,p.E1881K|NM_006922,p.E1930K|uc002ucx.3,p.E1930K|ENST00000540861,p.E413K|ENST00000409101,p.E1881K|ENST00000360093,p.E1930K|uc010zcy.2,p.E413K|ENST00000283254,p.E1930K|uc002ucy.3,p.E1881K|NM_001081676,p.E1881K|uc002ucz.3,p.E1881K	retained_intron, protein_coding, processed_transcript	uc010zcy.2	nonsynonymous SNV	exon3	c.G1237A	p.E413K	QRLKNISSNYNKEAIKGRIDLPIKQ	QRLKNISSNYNKKAIKGRIDLPIKQ	1.0	5.0	unscreened	-	3919_2:165946875-165946875 C>T_QRLKNISSNYNKKAIKGRIDLPIKQ
6:139563709-139563709 G>A	0.0	3919	MELANOMA	-	-	-	-	TXLNB	ENST00000358430,p.P670L|uc021zfy.1,p.P670L|NM_153235,p.P670L	protein_coding	uc021zfy.1	nonsynonymous SNV	exon10	c.C2009T	p.P670L	AAEELPVGASAGPQPRNVADTNLEG	AAEELPVGASAGLQPRNVADTNLEG	1.0	3.0	unscreened	-	3919_6:139563709-139563709 G>A_AAEELPVGASAGLQPRNVADTNLEG
1:110030262-110030262 C>T	1.0	3919	MELANOMA	-	-	-	-	ATXN7L2	NM_153340,p.S179F|ENST00000369870,p.S179F|uc001dxr.3,p.S179F	protein_coding, processed_transcript	uc001dxr.3	nonsynonymous SNV	exon5	c.C536T	p.S179F	DNLCQPGGLTKDSPGKPPMAPPSKE	DNLCQPGGLTKDFPGKPPMAPPSKE	5.0	5.0	unscreened	-	3919_1:110030262-110030262 C>T_DNLCQPGGLTKDFPGKPPMAPPSKE
6:166580213-166580213 C>A	0.0	3919	MELANOMA	-	-	-	-	T	NM_001270484,p.G113V|ENST00000366876,p.G113V|ENST00000366871,p.G113V|uc003quu.2,p.G113V|uc003qut.2,p.G113V|ENST00000296946,p.G113V|NM_003181,p.G113V|uc003quv.2,p.G113V|ENST00000461348,p.G113V	protein_coding	uc003quv.2	nonsynonymous SNV	exon3	c.G338T	p.G113V	RWKYVNGEWVPGGKPEPQAPSCVYI	RWKYVNGEWVPGVKPEPQAPSCVYI	1.0	3.0	unscreened	-	3919_6:166580213-166580213 C>A_RWKYVNGEWVPGVKPEPQAPSCVYI
6:54067002-54067002 G>A	0.0	3919	MELANOMA	-	-	-	-	MLIP	NM_138569,p.E362K|NM_001281747,p.E897K|ENST00000514433,p.E291K|uc011dxa.2,p.E897K|ENST00000502396,p.E897K|uc003pcg.4,p.E362K|ENST00000274897,p.E362K	protein_coding, processed_transcript	uc011dxa.2	nonsynonymous SNV	exon11	c.G2689A	p.E897K	EVYEPNPFSKYLEDNSDLFSEQDVT	EVYEPNPFSKYLKDNSDLFSEQDVT	2.0	7.0	unscreened	-	3919_6:54067002-54067002 G>A_EVYEPNPFSKYLKDNSDLFSEQDVT
13:111156292-111156292 C>T	1.0	3919	MELANOMA	-	-	-	-	COL4A2	NM_001846,p.P1413S|uc001vqx.3,p.P1413S|ENST00000360467,p.P1413S	protein_coding, processed_transcript	uc001vqx.3	nonsynonymous SNV	exon44	c.C4237T	p.P1413S	PGTVGPQGRRGPPGAPGEMGPQGPP	PGTVGPQGRRGPSGAPGEMGPQGPP	10.0	6.0	unscreened	-	3919_13:111156292-111156292 C>T_PGTVGPQGRRGPSGAPGEMGPQGPP
7:14613975-14613975 C>T	0.0	3919	MELANOMA	-	-	-	-	DGKB	ENST00000406247,p.M545I|ENST00000403951,p.M545I|ENST00000399322,p.M545I|ENST00000258767,p.M545I|ENST00000402815,p.M544I|uc003ssz.3,p.M545I|ENST00000407950,p.M537I|uc011jxt.2,p.M526I|ENST00000444700,p.M526I|NM_004080,p.M545I|uc003sta.3,p.M545I|NM_145695,p.M545I|uc011jxu.2,p.M544I	retained_intron, protein_coding, processed_transcript	uc011jxu.2	nonsynonymous SNV	exon19	c.G1632A	p.M544I	LRWGGGYEGENLMKILKDIENSTEI	LRWGGGYEGENLIKILKDIENSTEI	1.0	6.0	unscreened	-	3919_7:14613975-14613975 C>T_LRWGGGYEGENLIKILKDIENSTEI
2:130832757-130832757 C>-	0.0	3919	MELANOMA	-	-	-	-	POTEF	ENST00000357462,p.G763fs|ENST00000409914,p.G763fs|uc010fmh.2,p.G763fs|NM_001099771,p.G763fs	protein_coding	uc010fmh.2	frameshift deletion	exon17	c.2288delG	p.G763fs	ESYVGKEAQSKRGILTLKYPMEHGI	ESYVGKEAQSKRAS	1.0	2.0	-	-	3919_2:130832757-130832757 C>-_ESYVGKEAQSKRAS
20:13029765-13029765 G>A	0.0	3919	MELANOMA	-	-	-	-	SPTLC3	NM_018327,p.R97K|ENST00000378194,p.R97K|uc002wod.1,p.R97K|ENST00000399002,p.R97K|ENST00000434210,p.R97K|ENST00000450297,p.R70K	protein_coding, processed_transcript	uc002wod.1	nonsynonymous SNV	exon2	c.G290A	p.R97K	NWGIEKCNAAVERKEQKDFVPLYQD	NWGIEKCNAAVEKKEQKDFVPLYQD	1.0	7.0	-	-	3919_20:13029765-13029765 G>A_NWGIEKCNAAVEKKEQKDFVPLYQD
6:138655925-138655925 C>T	0.0	3919	MELANOMA	-	-	-	-	KIAA1244	ENST00000251691,p.A1981V|uc003qhu.3,p.A1981V|NM_020340,p.A1981V	protein_coding	uc003qhu.3	nonsynonymous SNV	exon33	c.C5942T	p.A1981V	SREHMGESLSLKAGGGDLLLPPSPK	SREHMGESLSLKVGGGDLLLPPSPK	1.0	6.0	unscreened	-	3919_6:138655925-138655925 C>T_SREHMGESLSLKVGGGDLLLPPSPK
2:168105226-168105226 C>T	0.0	3919	MELANOMA	-	-	-	-	XIRP2	ENST00000295237,p.P2442S|uc002udx.3,p.P2442S|ENST00000409195,p.P2442S|NM_001199144,p.P2220S|ENST00000409273,p.P2220S|uc010fpq.3,p.P2220S|uc002udy.3,p.P2267S|NM_152381,p.P2442S	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.C6658T	p.P2220S	PKHIKDNKNDFSPKVELATSLSDME	PKHIKDNKNDFSSKVELATSLSDME	2.0	4.0	unscreened	-	3919_2:168105226-168105226 C>T_PKHIKDNKNDFSSKVELATSLSDME
1:196920102-196920102 A>G	0.0	3919	MELANOMA	-	-	-	-	CFHR2	uc001gtq.1,p.N125S|ENST00000367415,p.N125S|NM_005666,p.N125S|ENST00000367421,p.N125S	protein_coding, processed_transcript	uc001gtq.1	nonsynonymous SNV	exon3	c.A374G	p.N125S	ICNTGYRLQNNENNISCVERGWSTP	ICNTGYRLQNNESNISCVERGWSTP	1.0	7.0	unscreened	-	3919_1:196920102-196920102 A>G_ICNTGYRLQNNESNISCVERGWSTP
6:166580220-166580220 G>A	0.0	3919	MELANOMA	-	-	-	-	T	uc003qut.2,p.P111S|ENST00000366871,p.P111S|NM_001270484,p.P111S|ENST00000461348,p.P111S|uc003quv.2,p.P111S|uc003quu.2,p.P111S|ENST00000296946,p.P111S|ENST00000366876,p.P111S|NM_003181,p.P111S	protein_coding	uc003quv.2	nonsynonymous SNV	exon3	c.C331T	p.P111S	NHRWKYVNGEWVPGGKPEPQAPSCV	NHRWKYVNGEWVSGGKPEPQAPSCV	1.0	3.0	unscreened	-	3919_6:166580220-166580220 G>A_NHRWKYVNGEWVSGGKPEPQAPSCV
2:121107115-121107115 G>A	0.0	3919	MELANOMA	-	-	-	-	INHBB	ENST00000295228,p.D297N|NM_002193,p.D297N|uc002tmn.2,p.D297N	protein_coding	uc002tmn.2	nonsynonymous SNV	exon2	c.G889A	p.D297N	SRHRIRKRGLECDGRTNLCCRQQFF	SRHRIRKRGLECNGRTNLCCRQQFF	2.0	4.0	unscreened	-	3919_2:121107115-121107115 G>A_SRHRIRKRGLECNGRTNLCCRQQFF
20:13029765-13029765 G>A	0.0	3919	MELANOMA	-	-	-	-	SPTLC3	uc002woc.3,p.R97K	protein_coding, processed_transcript	uc002woc.3	nonsynonymous SNV	exon2	c.G290A	p.R97K	NWGIEKCNAAVERKEQKVRMRTSLD	NWGIEKCNAAVEKKEQKVRMRTSLD	1.0	7.0	unscreened	-	3919_20:13029765-13029765 G>A_NWGIEKCNAAVEKKEQKVRMRTSLD
19:23844919-23844919 G>A	1.0	3919	MELANOMA	-	-	-	-	ZNF675	ENST00000599168,p.P75S	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000599168	nonsynonymous SNV	exon3	c.C223T	p.P75S	LTVKRHEMVNEPPGK	LTVKRHEMVNEPSGK	3.0	4.0	unscreened	-	3919_19:23844919-23844919 G>A_LTVKRHEMVNEPSGK
11:111746439-111746439 A>G	0.0	3919	MELANOMA	-	-	-	-	FDXACB1	ENST00000260257,p.V361A|ENST00000542429,p.V212A|uc001pmc.4,p.V361A|ENST00000528274,p.V272A|NM_138378,p.V361A|uc009yyi.3,p.V212A	protein_coding, nonsense_mediated_decay	uc009yyi.3	nonsynonymous SNV	exon4	c.T635C	p.V212A	PSLLVHVQDVIEVPDFLSGSLHILS	PSLLVHVQDVIEAPDFLSGSLHILS	1.0	4.0	unscreened	-	3919_11:111746439-111746439 A>G_PSLLVHVQDVIEAPDFLSGSLHILS
1:156554696-156554696 C>T	1.0	3919	MELANOMA	-	-	-	-	TTC24	ENST00000368236,p.P427S|uc021pbf.1,p.P427S|NM_001105669,p.P427S|ENST00000368237,p.P427S	protein_coding, processed_transcript	uc021pbf.1	nonsynonymous SNV	exon7	c.C1279T	p.P427S	HTLTSAPGRLQAPGGASQAEGTPAK	HTLTSAPGRLQASGGASQAEGTPAK	4.0	6.0	unscreened	-	3919_1:156554696-156554696 C>T_HTLTSAPGRLQASGGASQAEGTPAK
20:40730858-40730858 C>T	0.0	3919	MELANOMA	-	-	-	1	PTPRT	ENST00000373198,p.R1229Q|uc002xkg.3,p.R1207Q|ENST00000373201,p.R1197Q|ENST00000356100,p.R1216Q|ENST00000373190,p.R1206Q|ENST00000373187,p.R1207Q|ENST00000373184,p.R1217Q|NM_133170,p.R1226Q|uc010ggi.3,p.R410Q|NM_007050,p.R1207Q|uc010ggj.3,p.R1226Q|ENST00000373193,p.R1210Q	protein_coding, processed_transcript	uc010ggj.3	nonsynonymous SNV	exon27	c.G3677A	p.R1226Q	SIGLLPRNHDKNRSMDVLPLDRCLP	SIGLLPRNHDKNQSMDVLPLDRCLP	1.0	6.0	unscreened	-	3919_20:40730858-40730858 C>T_SIGLLPRNHDKNQSMDVLPLDRCLP
9:34621475-34621475 G>A	0.0	3919	MELANOMA	-	-	-	-	ARID3C	ENST00000378909,p.P407S|uc011lon.2,p.P407S|NM_001017363,p.P407S	protein_coding	uc011lon.2	nonsynonymous SNV	exon7	c.C1219T	p.P407S	PTNPAPPPSTGPPSSILP	PTNPAPPPSTGPSSSILP	1.0	3.0	unscreened	-	3919_9:34621475-34621475 G>A_PTNPAPPPSTGPSSSILP
12:51112566-51112566 C>G	1.0	3919	MELANOMA	-	-	-	-	DIP2B	uc009zlt.3,p.L406V|ENST00000301180,p.L976V|uc001rwv.3,p.L976V|NM_173602,p.L976V	retained_intron, protein_coding, nonsense_mediated_decay	uc009zlt.3	nonsynonymous SNV	exon13	c.C1216G	p.L406V	AGKRIAQAAGRDLGQIEENDLVRKH	AGKRIAQAAGRDVGQIEENDLVRKH	7.0	4.0	unscreened	-	3919_12:51112566-51112566 C>G_AGKRIAQAAGRDVGQIEENDLVRKH
3:175520981-175520981 G>A	1.0	3919	MELANOMA	-	-	-	-	NAALADL2	uc003fit.3,p.G793E|ENST00000454872,p.G793E|NM_207015,p.G793E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003fit.3	nonsynonymous SNV	exon14	c.G2378A	p.G793E	KAGLDVFKSVLDGKN	KAGLDVFKSVLDEKN	3.0	7.0	unscreened	-	3919_3:175520981-175520981 G>A_KAGLDVFKSVLDEKN
2:163230002-163230002 C>T	0.0	3919	MELANOMA	-	-	-	-	KCNH7	ENST00000332142,p.R1101Q|uc002uch.2,p.R1101Q|NM_033272,p.R1101Q	protein_coding, processed_transcript	uc002uch.2	nonsynonymous SNV	exon15	c.G3302A	p.R1101Q	RTSQPEASIKTDRSFSPSSQCPEFL	RTSQPEASIKTDQSFSPSSQCPEFL	1.0	5.0	unscreened	-	3919_2:163230002-163230002 C>T_RTSQPEASIKTDQSFSPSSQCPEFL
2:219883740-219883740 C>T	0.0	3919	MELANOMA	-	-	-	-	CCDC108	uc002vjm.3,p.G97E	retained_intron, protein_coding	uc002vjm.3	nonsynonymous SNV	exon2	c.G290A	p.G97E	DWYGLKGATGGPGRQVPRG	DWYGLKGATGGPERQVPRG	1.0	3.0	unscreened	-	3919_2:219883740-219883740 C>T_DWYGLKGATGGPERQVPRG
8:24324475-24324475 G>A	0.0	3919	MELANOMA	-	-	-	-	ADAM7	ENST00000175238,p.E185K|uc003xeb.3,p.E185K|NM_003817,p.E185K|ENST00000380789,p.E185K	protein_coding	uc003xeb.3	nonsynonymous SNV	exon6	c.G553A	p.E185K	LNFTRKTVPGDNESEEDSKIKGIHD	LNFTRKTVPGDNKSEEDSKIKGIHD	1.0	7.0	unscreened	-	3919_8:24324475-24324475 G>A_LNFTRKTVPGDNKSEEDSKIKGIHD
8:24324475-24324475 G>A	0.0	3919	MELANOMA	-	-	-	-	ADAM7	uc003xea.1,p.E185K|ENST00000441335,p.E185K	protein_coding	uc003xea.1	nonsynonymous SNV	exon6	c.G553A	p.E185K	LNFTRKTVPGDNESEEDSKIKVSTL	LNFTRKTVPGDNKSEEDSKIKVSTL	1.0	7.0	unscreened	-	3919_8:24324475-24324475 G>A_LNFTRKTVPGDNKSEEDSKIKVSTL
6:36931695-36931695 C>T	0.0	3919	MELANOMA	-	-	-	-	PI16	uc003omz.1,p.P263L|ENST00000373674,p.P456L|NM_153370,p.P456L|uc021yzd.1,p.P456L|NM_001199159,p.P456L|uc011dts.1,p.P227L|uc003ona.3,p.P456L	protein_coding, processed_transcript	uc021yzd.1	nonsynonymous SNV	exon7	c.C1367T	p.P456L	VWGPLLGLLLLPPLVLAGIF	VWGPLLGLLLLPLLVLAGIF	1.0	4.0	unscreened	-	3919_6:36931695-36931695 C>T_VWGPLLGLLLLPLLVLAGIF
9:67951987-67951987 G>A	0.0	3919	MELANOMA	-	-	-	-	ANKRD20A1,ANKRD20A3	NM_001012419,p.G317E|NM_032250,p.G317E|uc010mnn.3,p.G316E|ENST00000377477,p.G317E|uc004aeu.3,p.G317E	protein_coding	uc010mnn.3	nonsynonymous SNV	exon9	c.G947A	p.G316E	VSEPLPGSSHEKGNRIVNGQGEGPP	VSEPLPGSSHEKENRIVNGQGEGPP	2.0	5.0	unscreened	-	3919_9:67951987-67951987 G>A_VSEPLPGSSHEKENRIVNGQGEGPP
20:2290435-2290435 G>A	0.0	3919	MELANOMA	-	-	-	-	TGM3	NM_003245,p.G47D|ENST00000381458,p.G47D|uc002wfx.4,p.G47D	protein_coding, processed_transcript	uc002wfx.4	nonsynonymous SNV	exon2	c.G140A	p.G47D	GQNFQVLMIMNKGLGSNERLEFIVS	GQNFQVLMIMNKDLGSNERLEFIVS	1.0	6.0	unscreened	-	3919_20:2290435-2290435 G>A_GQNFQVLMIMNKDLGSNERLEFIVS
1:226125202-226125202 C>T	0.0	3919	MELANOMA	-	-	-	-	LEFTY2	uc010pvk.2,p.R313K|NM_001172425,p.R313K|ENST00000366820,p.R347K|NM_003240,p.R347K|ENST00000420304,p.R313K|uc001hpt.2,p.R347K	protein_coding, processed_transcript	uc010pvk.2	nonsynonymous SNV	exon5	c.G938A	p.R313K	RTRPQVVSLPNMRVQKCSCASDGAL	RTRPQVVSLPNMKVQKCSCASDGAL	1.0	3.0	unscreened	-	3919_1:226125202-226125202 C>T_RTRPQVVSLPNMKVQKCSCASDGAL
1:248845603-248845603 C>T	0.0	3919	MELANOMA	-	-	-	-	OR14I1	ENST00000342623,p.M1I|NM_001004734,p.M1I|uc001ieu.1,p.M1I	protein_coding	uc001ieu.1	nonsynonymous SNV	exon1	c.G3A	p.M1I	MDNLTKVTEFLLM	IDNLTKVTEFLLM	4.0	6.0	unscreened	-	3919_1:248845603-248845603 C>T_IDNLTKVTEFLLM
11:92533545-92533545 C>A	0.0	3919	MELANOMA	-	-	-	2	FAT3	NM_001008781,p.H2456N|uc001pdj.4,p.H2456N|ENST00000298047,p.H2456N|ENST00000409404,p.H2456N|ENST00000525166,p.H2306N	retained_intron, protein_coding, processed_transcript	uc001pdj.4	nonsynonymous SNV	exon9	c.C7366A	p.H2456N	MDSKSGVITLSNHRKQRMEPLYSLN	MDSKSGVITLSNNRKQRMEPLYSLN	1.0	5.0	-	-	3919_11:92533545-92533545 C>A_MDSKSGVITLSNNRKQRMEPLYSLN
5:41313736-41313736 C>T	0.0	3919	MELANOMA	-	-	-	-	PLCXD3	NM_001005473,p.G317R|ENST00000377801,p.G317R|ENST00000328457,p.G317R|uc003jmm.1,p.G317R	protein_coding	uc003jmm.1	nonsynonymous SNV	exon3	c.G949A	p.G317R	STVIKLNYVFDEGEANT	STVIKLNYVFDEREANT	1.0	4.0	unscreened	-	3919_5:41313736-41313736 C>T_STVIKLNYVFDEREANT
7:57528735-57528735 G>A	0.0	3919	MELANOMA	-	-	-	-	ZNF716	uc011kdi.1,p.D190N|ENST00000420713,p.D190N|NM_001159279,p.D190N	protein_coding	uc011kdi.1	nonsynonymous SNV	exon4	c.G568A	p.D190N	RHTGKKHFKCKNDGKSFCMLSRLNQ	RHTGKKHFKCKNNGKSFCMLSRLNQ	1.0	5.0	unscreened	-	3919_7:57528735-57528735 G>A_RHTGKKHFKCKNNGKSFCMLSRLNQ
6:46620303-46620303 G>-	0.0	3919	MELANOMA	-	-	-	-	CYP39A1	NM_016593,p.P6fs|uc011dwa.1,p.P6fs|NM_001278738,p.P6fs|ENST00000275016,p.P6fs|uc003oyf.1,p.P6fs	protein_coding, processed_transcript	uc011dwa.1	frameshift deletion	exon1	c.17delC	p.P6fs	MELISPTVIIILGCLALF	MELISQQ	5.0	3.0	unscreened	-	3919_6:46620303-46620303 G>-_MELISQQ
X:151869812-151869812 G>A	1.0	3998	MELANOMA	-	-	-	-	MAGEA6	ENST00000412733,p.E168K|ENST00000329342,p.E168K|uc004ffr.1,p.E168K|uc004ffq.1,p.E168K|ENST00000457643,p.E168K|uc022chf.1,p.E168K|NM_005363,p.E168K|NM_175868,p.E168K	protein_coding	uc022chf.1	nonsynonymous SNV	exon1	c.G502A	p.E168K	DSLQLVFGIELMEVDPIGHVYIFAT	DSLQLVFGIELMKVDPIGHVYIFAT	9.0	10.0	CD8	-	3998_X:151869812-151869812 G>A_DSLQLVFGIELMKVDPIGHVYIFAT
4:39863906-39863906 G>A, 4:39863926-39863926 T>A	1.0	3998	MELANOMA	-	-	-	-	PDS5A	uc003guv.4,p.H1007Y|ENST00000303538,p.H1007Y|NM_001100399,p.H1007Y	retained_intron, protein_coding, nonsense_mediated_decay	uc003guv.4	nonsynonymous SNV	exon26	c.C3019T, c.A2999T 	p.Y1000F, p.H1007Y	SLLPEYVVPYMIHLLAHDPDFTRSQ	SLLPEFVVPYMIYLLAHDPDFTRSQ	9.0	8.0	CD8	snv,snv PR	3998_4:39863906-39863906 G>A, 4:39863926-39863926 T>A_SLLPEFVVPYMIYLLAHDPDFTRSQ
3:32776306-32776306 C>T	1.0	3998	MELANOMA	-	-	-	-	CNOT10	uc003cfe.2,p.S451L|NM_001256741,p.S451L|uc003cfd.2,p.S450L|NM_015442,p.S451L|uc003cfc.2,p.S451L|uc011axj.2,p.S511L|NM_001256742,p.S511L|uc011axi.2,p.S223L|uc010hfw.2,p.S146L|ENST00000435630,p.S397L|ENST00000454516,p.S511L|ENST00000538368,p.S223L|ENST00000328834,p.S451L|ENST00000331889,p.S451L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011axj.2	nonsynonymous SNV	exon12	c.C1532T	p.S511L	SIQNTVYNDGQSSAIPVASMEFAAI	SIQNTVYNDGQSLAIPVASMEFAAI	9.0	5.0	-	-	3998_3:32776306-32776306 C>T_SIQNTVYNDGQSLAIPVASMEFAAI
7:92761722-92761722 C>T	1.0	3998	MELANOMA	-	-	-	-	SAMD9L	ENST00000437805,p.R1188Q|ENST00000318238,p.R1188Q|uc010lfc.1,p.R1188Q|NM_152703,p.R1188Q|uc022ahh.1,p.R1188Q|uc010lfd.1,p.R1188Q|uc003umj.1,p.R1188Q|uc003umi.1,p.R1188Q|ENST00000411955,p.R1188Q|uc003umh.1,p.R1188Q|uc010lfb.1,p.R1188Q|uc003umk.1,p.R1188Q	protein_coding, processed_transcript	uc022ahh.1	nonsynonymous SNV	exon1	c.G3563A	p.R1188Q	ETENWSPQKSQRRYDMYNTACFLGE	ETENWSPQKSQRQYDMYNTACFLGE	10.0	5.0	-	-	3998_7:92761722-92761722 C>T_ETENWSPQKSQRQYDMYNTACFLGE
11:9735069-9735069 ->A	1.0	3998	MELANOMA	-	-	-	-	SWAP70	ENST00000526358,p.S117fs	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000526358	frameshift insertion	exon4	c.351dupA	p.S117fs	RLNSIGCVGPSVSKKTSQRIPCSLQ	RLNSIGCVGPSVSKKNLTKNPLLITEEDAFKIWVIFNFLSEDKYPL	10.0	2.0	unscreened	-	3998_11:9735069-9735069 ->A_RLNSIGCVGPSVSKKNLTKNPLLITEEDAFKIWVIFNFLSEDKYPL
17:60039134-60039134 G>A	1.0	3998	MELANOMA	-	-	-	-	MED13	NM_005121,p.P1691S|uc002izo.3,p.P1691S|ENST00000397786,p.P1691S	retained_intron, protein_coding, processed_transcript	uc002izo.3	nonsynonymous SNV	exon22	c.C5071T	p.P1691S	PHIKSTVSVQIIPCQYLLQPVKHED	PHIKSTVSVQIISCQYLLQPVKHED	10.0	6.0	CD8	-	3998_17:60039134-60039134 G>A_PHIKSTVSVQIISCQYLLQPVKHED
2:27464924-27464924 C>T	1.0	3998	MELANOMA	-	-	-	-	CAD	NM_004341,p.S2010F|uc002rji.3,p.S2010F|ENST00000264705,p.S2010F|ENST00000403525,p.S1947F|uc010eyw.3,p.S1947F	retained_intron, protein_coding, processed_transcript	uc010eyw.3	nonsynonymous SNV	exon38	c.C5840T	p.S1947F	TSSVQKGESLADSVQTMSCYADVVV	TSSVQKGESLADFVQTMSCYADVVV	7.0	8.0	-	-	3998_2:27464924-27464924 C>T_TSSVQKGESLADFVQTMSCYADVVV
21:43412161-43412161 G>A	1.0	3998	MELANOMA	-	-	ID=COSM1714025;OCCURENCE=1(skin)	-	ZBTB21	ENST00000398511,p.L682F|uc002yzy.4,p.L682F|NM_001098402,p.L682F|ENST00000398499,p.L682F|uc002zaa.4,p.L682F|uc002zab.4,p.L682F|NM_020727,p.L682F|uc021wjo.1,p.L682F|ENST00000310826,p.L682F	protein_coding, processed_transcript	uc021wjo.1	nonsynonymous SNV	exon1	c.C2044T	p.L682F	YICTYCGKAYRFLSQFKQHIKMHPG	YICTYCGKAYRFFSQFKQHIKMHPG	6.0	4.0	-	-	3998_21:43412161-43412161 G>A_YICTYCGKAYRFFSQFKQHIKMHPG
17:80382373-80382373 C>T	1.0	3998	MELANOMA	-	-	-	-	HEXDC	ENST00000578775,p.A24V	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000578775	nonsynonymous SNV	exon1	c.C71T	p.A24V	YEGPLRLLRAKYAYRLECSGAILAH	YEGPLRLLRAKYVYRLECSGAILAH	8.0	4.0	-	-	3998_17:80382373-80382373 C>T_YEGPLRLLRAKYVYRLECSGAILAH
16:84695201-84695201 C>T	0.0	3998	MELANOMA	-	-	-	-	KLHL36	ENST00000258157,p.A375V|uc010chl.3,p.A374V	retained_intron, protein_coding	uc010chl.3	nonsynonymous SNV	exon4	c.C1121T	p.A374V	ASNLLYRFTYGHAGTIYKDFVYISG	ASNLLYRFTYGHVGTIYKDFVYISG	8.0	3.0	unscreened	-	3998_16:84695201-84695201 C>T_ASNLLYRFTYGHVGTIYKDFVYISG
16:84695201-84695201 C>T	0.0	3998	MELANOMA	-	-	-	-	KLHL36	NM_024731,p.A438V|uc002fig.3,p.A438V|ENST00000564996,p.A438V	retained_intron, protein_coding	uc002fig.3	nonsynonymous SNV	exon5	c.C1313T	p.A438V	YVAGLPRFTYGHAGTIYKDFVYISG	YVAGLPRFTYGHVGTIYKDFVYISG	8.0	3.0	unscreened	-	3998_16:84695201-84695201 C>T_YVAGLPRFTYGHVGTIYKDFVYISG
8:18490147-18490147 G>A	1.0	3998	MELANOMA	-	-	-	-	PSD3	NM_015310,p.H796Y|ENST00000440756,p.H798Y|NM_206909,p.H262Y|ENST00000286485,p.H262Y|uc003wyx.4,p.H125Y|uc003wza.3,p.H796Y|ENST00000523619,p.H731Y|uc003wyz.3,p.H97Y|uc003wyy.3,p.H262Y|ENST00000327040,p.H796Y|ENST00000428502,p.H125Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003wza.3	nonsynonymous SNV	exon11	c.C2386T	p.H796Y	AVYKSGFLARKIHADMDGKKTPRGK	AVYKSGFLARKIYADMDGKKTPRGK	10.0	9.0	-	-	3998_8:18490147-18490147 G>A_AVYKSGFLARKIYADMDGKKTPRGK
10:114168190-114168190 C>T	0.0	3998	MELANOMA	-	-	-	-	ACSL5	ENST00000356116,p.S204F|ENST00000354273,p.S148F|uc009xxz.3,p.S148F|uc001kzu.3,p.S204F|NM_016234,p.S204F|ENST00000393081,p.S148F|uc001kzs.3,p.S148F|ENST00000433418,p.S148F|ENST00000354655,p.S148F|NM_203380,p.S148F|NM_203379,p.S148F|uc001kzt.3,p.S148F	protein_coding, processed_transcript	uc009xxz.3	nonsynonymous SNV	exon5	c.C443T	p.S148F	GIFAQNRPEWIISELACYTYSMVAV	GIFAQNRPEWIIFELACYTYSMVAV	7.0	10.0	-	-	3998_10:114168190-114168190 C>T_GIFAQNRPEWIIFELACYTYSMVAV
4:187539602-187539602 G>A	1.0	3998	MELANOMA	-	-	-	1	FAT1	NM_005245,p.S2713L|uc003izf.3,p.S2713L|ENST00000441802,p.S2713L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003izf.3	nonsynonymous SNV	exon10	c.C8138T	p.S2713L	PKFSEPFYTFTVSEDVPIGTEIDLI	PKFSEPFYTFTVLEDVPIGTEIDLI	10.0	9.0	-	-	3998_4:187539602-187539602 G>A_PKFSEPFYTFTVLEDVPIGTEIDLI
15:80454635-80454635 G>A	1.0	3998	MELANOMA	0.0009	-	-	-	FAH	ENST00000558022,p.G138R|ENST00000407106,p.G138R|ENST00000561421,p.G138R|uc002bfn.2,p.G68R|uc002bfm.2,p.G138R|ENST00000539156,p.G68R|NM_000137,p.G138R|ENST00000261755,p.G138R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bfn.2	nonsynonymous SNV	exon4	c.G202A	p.G68R	DFYSSRQHATNVGIMFRDKENALMP	DFYSSRQHATNVRIMFRDKENALMP	8.0	4.0	-	-	3998_15:80454635-80454635 G>A_DFYSSRQHATNVRIMFRDKENALMP
17:80382373-80382373 C>T	1.0	3998	MELANOMA	-	-	-	-	HEXDC	ENST00000337014,p.A63V|ENST00000577944,p.A63V|NM_173620,p.A63V|ENST00000327949,p.A63V|uc002kew.3,p.A63V|uc002kev.4,p.A63V|ENST00000578632,p.A16V	retained_intron, protein_coding, nonsense_mediated_decay	uc002kew.3	nonsynonymous SNV	exon2	c.C188T	p.A63V	YEGPLRLLRAKYAYSPSEIKEILHL	YEGPLRLLRAKYVYSPSEIKEILHL	8.0	4.0	-	-	3998_17:80382373-80382373 C>T_YEGPLRLLRAKYVYSPSEIKEILHL
2:45778335-45778335 G>A	1.0	3998	MELANOMA	-	-	-	-	SRBD1	ENST00000535761,p.P54L|uc010yoc.2,p.P54L|NM_018079,p.P535L|ENST00000263736,p.P535L|uc002rus.3,p.P535L	protein_coding, processed_transcript	uc010yoc.2	nonsynonymous SNV	exon4	c.C161T	p.P54L	RNLRQLLLTSPVPGRTLMGVDPGYK	RNLRQLLLTSPVLGRTLMGVDPGYK	6.0	7.0	-	-	3998_2:45778335-45778335 G>A_RNLRQLLLTSPVLGRTLMGVDPGYK
19:3382043-3382043 C>T	1.0	3998	MELANOMA	-	-	-	-	NFIC	uc010xhj.2,p.R122W|NM_001245004,p.R122W|ENST00000589123,p.R113W|ENST00000346156,p.R113W|NM_005597,p.R122W|ENST00000443272,p.R122W|ENST00000395111,p.R113W|ENST00000590282,p.R122W|uc002lxo.3,p.R113W|ENST00000586919,p.R113W|NM_001245002,p.R122W|uc010xhh.2,p.R113W|ENST00000341919,p.R122W|NM_205843,p.R113W|NM_001245005,p.R113W|uc010xhi.2,p.R122W|uc002lxp.3,p.R122W	retained_intron, protein_coding, processed_transcript	uc010xhj.2	nonsynonymous SNV	exon2	c.C364T	p.R122W	DQKGKMRRIDCLRQADKVWRLDLVM	DQKGKMRRIDCLWQADKVWRLDLVM	9.0	8.0	-	-	3998_19:3382043-3382043 C>T_DQKGKMRRIDCLWQADKVWRLDLVM
12:49445505-49445505 G>A	1.0	3998	MELANOMA	-	-	-	1	KMT2D	NM_003482,p.S654F|ENST00000301067,p.S654F|uc001rta.4,p.S654F	retained_intron, protein_coding, processed_transcript	uc001rta.4	nonsynonymous SNV	exon10	c.C1961T	p.S654F	SPMSPPPEVSRLSPLPVVSRLSPPP	SPMSPPPEVSRLFPLPVVSRLSPPP	10.0	2.0	-	-	3998_12:49445505-49445505 G>A_SPMSPPPEVSRLFPLPVVSRLSPPP
1:114437968-114437968 G>A	1.0	3998	MELANOMA	-	-	ID=COSM1332828;OCCURENCE=1(large_intestine)	-	AP4B1	NM_001253853,p.P548S|ENST00000369567,p.P479S|ENST00000369569,p.P647S|ENST00000256658,p.P647S|uc010owp.2,p.P548S|NM_001253852,p.P647S|NM_006594,p.P647S|uc001eec.3,p.P479S|uc001eed.3,p.P647S|uc001eeb.3,p.P647S	protein_coding, processed_transcript	uc010owp.2	nonsynonymous SNV	exon11	c.C1642T	p.P548S	WLSLKVAHQQVLPWRGEFHPDTLQM	WLSLKVAHQQVLSWRGEFHPDTLQM	7.0	8.0	-	-	3998_1:114437968-114437968 G>A_WLSLKVAHQQVLSWRGEFHPDTLQM
4:89190058-89190058 G>A	1.0	3998	MELANOMA	-	-	-	-	PPM1K	NM_152542,p.A181V|uc003hrm.5,p.A181V|ENST00000295908,p.A181V	retained_intron, protein_coding, processed_transcript	uc003hrm.5	nonsynonymous SNV	exon4	c.C542T	p.A181V	KAFSSHARLSADATLLTSGTTATVA	KAFSSHARLSADVTLLTSGTTATVA	10.0	3.0	-	-	3998_4:89190058-89190058 G>A_KAFSSHARLSADVTLLTSGTTATVA
19:45515487-45515487 C>T	1.0	3998	MELANOMA	-	-	-	-	RELB	uc021uvq.1,p.L153F|ENST00000505236,p.L150F|ENST00000540120,p.L153F|ENST00000221452,p.L153F	retained_intron, protein_coding, nonsense_mediated_decay	uc021uvq.1	nonsynonymous SNV	exon4	c.C457T	p.L153F	RYECEGRSAGSILGESSTEASKTLP	RYECEGRSAGSIFGESSTEASKTLP	7.0	9.0	-	-	3998_19:45515487-45515487 C>T_RYECEGRSAGSIFGESSTEASKTLP
12:112630923-112630923 G>A	1.0	3998	MELANOMA	-	-	-	-	HECTD4	NM_001109662,p.P2876S|ENST00000377560,p.P2838S|ENST00000430131,p.P2588S|ENST00000550722,p.P2864S|uc021reb.1,p.P2876S	retained_intron, protein_coding, processed_transcript	uc021reb.1	nonsynonymous SNV	exon58	c.C8626T	p.P2876S	ISESKVNMDVNFPGAAFVVVSCKES	ISESKVNMDVNFSGAAFVVVSCKES	9.0	5.0	-	-	3998_12:112630923-112630923 G>A_ISESKVNMDVNFSGAAFVVVSCKES
10:95095771-95095771 T>G	0.0	3998	MELANOMA	-	-	-	-	MYOF	uc001kio.3,p.E1477D|ENST00000358334,p.E1477D|ENST00000371502,p.E1509D|ENST00000371501,p.E1490D|NM_133337,p.E1477D|ENST00000359263,p.E1490D|uc001kin.3,p.E1490D|NM_013451,p.E1490D	protein_coding, processed_transcript, nonsense_mediated_decay	uc001kio.3	nonsynonymous SNV	exon40	c.A4431C	p.E1477D	LKIYNCELENVAEFEGLTDFSDTFK	LKIYNCELENVADFEGLTDFSDTFK	7.0	10.0	-	-	3998_10:95095771-95095771 T>G_LKIYNCELENVADFEGLTDFSDTFK
16:3613745-3613745 C>T	0.0	3998	MELANOMA	-	-	-	-	NLRC3	NM_178844,p.G398E|ENST00000448023,p.G445E|uc010btn.3,p.G398E|ENST00000324659,p.G380E|ENST00000359128,p.G398E|ENST00000301749,p.G398E	protein_coding, processed_transcript, polymorphic_pseudogene	uc010btn.3	nonsynonymous SNV	exon5	c.G1193A	p.G398E	IEQVAHGGRKMVGTLGRLAFHGLLK	IEQVAHGGRKMVETLGRLAFHGLLK	5.0	1.0	unscreened	-	3998_16:3613745-3613745 C>T_IEQVAHGGRKMVETLGRLAFHGLLK
7:195619-195619 C>T	1.0	3998	MELANOMA	-	-	-	-	FAM20C	ENST00000313766,p.P224L|uc003sip.3,p.P224L|NM_020223,p.P224L	retained_intron, protein_coding, processed_transcript	uc003sip.3	nonsynonymous SNV	exon2	c.C671T	p.P224L	FLSPGEAAVDSYPNWLKFHIGINRY	FLSPGEAAVDSYLNWLKFHIGINRY	7.0	8.0	-	-	3998_7:195619-195619 C>T_FLSPGEAAVDSYLNWLKFHIGINRY
20:44596543-44596543 G>A	0.0	3998	MELANOMA	-	-	-	-	ZNF335	ENST00000426788,p.S60F|uc010zxk.2,p.S60F|uc002xqw.3,p.S215F|ENST00000322927,p.S215F|uc002xqy.3,p.S60F|uc002xqx.1,p.S183F|NM_022095,p.S215F	protein_coding, processed_transcript	uc010zxk.2	nonsynonymous SNV	exon2	c.C179T	p.S60F	TSTCLEAQGGPSSPVQLPPASGAEE	TSTCLEAQGGPSFPVQLPPASGAEE	7.0	1.0	unscreened	-	3998_20:44596543-44596543 G>A_TSTCLEAQGGPSFPVQLPPASGAEE
10:79744973-79744973 C>G	1.0	3998	MELANOMA	-	-	-	-	POLR3A	NM_007055,p.G1066A|ENST00000372371,p.G1066A|uc001jzn.3,p.G1066A	protein_coding, processed_transcript	uc001jzn.3	nonsynonymous SNV	exon24	c.G3197C	p.G1066A	HFAGVASMNITLGVPRIKEIINASK	HFAGVASMNITLAVPRIKEIINASK	6.0	10.0	-	-	3998_10:79744973-79744973 C>G_HFAGVASMNITLAVPRIKEIINASK
6:109954238-109954238 G>A	1.0	3998	MELANOMA	-	-	-	-	AK9	NM_145025,p.P381L|ENST00000368948,p.P381L|ENST00000424296,p.P381L|uc003ptr.4,p.P381L|uc003ptn.2,p.P381L|NM_001145128,p.P381L|ENST00000285397,p.P381L	retained_intron, protein_coding	uc003ptr.4	nonsynonymous SNV	exon12	c.C1142T	p.P381L	EEALKPFLLNPRPYLLPPMPGPPCK	EEALKPFLLNPRLYLLPPMPGPPCK	5.0	10.0	-	-	3998_6:109954238-109954238 G>A_EEALKPFLLNPRLYLLPPMPGPPCK
10:124457257-124457257 G>A	0.0	3998	MELANOMA	-	-	ID=COSM228140;OCCURENCE=1(skin)	-	C10orf120	ENST00000329446,p.H334Y|uc001lgn.3,p.H334Y|NM_001010912,p.H334Y	protein_coding	uc001lgn.3	nonsynonymous SNV	exon3	c.C1000T	p.H334Y	IWKERMRKATPYHY	IWKERMRKATPYYY	1.0	10.0	-	-	3998_10:124457257-124457257 G>A_IWKERMRKATPYYY
19:54783849-54783849 C>T	0.0	3998	MELANOMA	-	-	-	-	LILRB2	NM_001278406,p.G51E|uc002qfb.3,p.G51E|ENST00000391749,p.G51E|NM_001080978,p.G51E|NM_005874,p.G51E|uc010eri.3,p.G51E|NM_001278403,p.G51E|ENST00000391746,p.G51E|ENST00000314446,p.G51E|NM_001278405,p.G51E|ENST00000391748,p.G51E|uc002qfc.3,p.G51E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010eri.3	nonsynonymous SNV	exon3	c.G152A	p.G51E	ITQGSPVTLSCQGSLEAQEYRLYRE	ITQGSPVTLSCQESLEAQEYRLYRE	7.0	3.0	unscreened	-	3998_19:54783849-54783849 C>T_ITQGSPVTLSCQESLEAQEYRLYRE
7:140453136-140453136 A>T	1.0	3998	MELANOMA	-	-	ID=COSM476;OCCURENCE=3(adrenal_gland),3(urinary_tract),4(genital_tract),7(pancreas),16(liver),68(eye),2(prostate),4161(large_intestine),21(biliary_tract),11(breast),4377(skin),9(small_intestine),1(autonomic_ganglia),20(pituitary),242(ovary),32(soft_tissue),7(testis),459(haematopoietic_and_lymphoid_tissue),9534(thyroid),78(lung),1(meninges),12(upper_aerodigestive_tract),717(NS),15(bone),2(oesophagus),4(stomach),228(central_nervous_system)	1	BRAF	uc003vwc.4,p.V600E|ENST00000479537,p.V28E|ENST00000288602,p.V600E|NM_004333,p.V600E	retained_intron, protein_coding, nonsense_mediated_decay	uc003vwc.4	nonsynonymous SNV	exon15	c.T1799A	p.V600E	LTVKIGDFGLATVKSRWSGSHQFEQ	LTVKIGDFGLATEKSRWSGSHQFEQ	9.0	1.0	-	-	3998_7:140453136-140453136 A>T_LTVKIGDFGLATEKSRWSGSHQFEQ
14:81743485-81743485 G>A	0.0	3998	MELANOMA	-	-	-	-	STON2	ENST00000555447,p.P724S|uc001xvk.2,p.P724S|NM_001256430,p.P724S|ENST00000267540,p.P724S|uc010tvt.3,p.P521S|NM_033104,p.P724S|uc010tvu.3,p.P724S	retained_intron, protein_coding, processed_transcript	uc010tvu.3	nonsynonymous SNV	exon5	c.C2170T	p.P724S	GFSANRDPLTQVPCENVMIRYPVPS	GFSANRDPLTQVSCENVMIRYPVPS	6.0	10.0	-	-	3998_14:81743485-81743485 G>A_GFSANRDPLTQVSCENVMIRYPVPS
19:58290641-58290641 C>T	1.0	3998	MELANOMA	-	-	-	-	ZNF586	ENST00000396154,p.T229I|uc010euh.3,p.T186I|NM_017652,p.T229I|uc002qqd.3,p.T229I|ENST00000391702,p.T186I|NM_001204814,p.T186I	protein_coding	uc010euh.3	nonsynonymous SNV	exon4	c.C557T	p.T186I	YTSSLIKHRRIHTGERPYECSECGR	YTSSLIKHRRIHIGERPYECSECGR	8.0	4.0	-	-	3998_19:58290641-58290641 C>T_YTSSLIKHRRIHIGERPYECSECGR
5:180276016-180276016 G>A	0.0	3998	MELANOMA	-	-	-	-	ZFP62	uc010jlk.3,p.L794F|ENST00000502412,p.L827F|uc021yjo.1,p.L794F|NM_152283,p.L794F|NM_001172638,p.L827F|ENST00000359141,p.L767F|ENST00000512132,p.L794F|uc011dhf.2,p.L827F|uc011dhe.2,p.L794F	retained_intron, protein_coding, processed_transcript	uc021yjo.1	nonsynonymous SNV	exon1	c.C2380T	p.L794F	CECGKSFNYRSVLDQHKRIHTGKKP	CECGKSFNYRSVFDQHKRIHTGKKP	7.0	9.0	-	-	3998_5:180276016-180276016 G>A_CECGKSFNYRSVFDQHKRIHTGKKP
19:55143011-55143011 C>T	0.0	3998	MELANOMA	-	-	-	-	LILRB1	ENST00000421584,p.P44L|NM_001081638,p.P44L|ENST00000396321,p.P44L|uc010erq.3,p.P44L|ENST00000396315,p.P44L|NM_001278399,p.P44L|ENST00000427581,p.P80L|ENST00000434867,p.P44L|NM_001081637,p.P44L|ENST00000324602,p.P44L|uc002qgl.3,p.P44L|ENST00000396331,p.P44L|NM_001278398,p.P44L|NM_001081639,p.P44L|uc002qgk.3,p.P44L|ENST00000396327,p.P44L|uc002qgj.3,p.P44L|ENST00000396332,p.P44L|ENST00000396317,p.P44L|ENST00000448689,p.P44L|uc002qgm.3,p.P44L|ENST00000418536,p.P44L|NM_006669,p.P44L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010erq.3	nonsynonymous SNV	exon3	c.C131T	p.P44L	WAEPGSVITQGSPVTLRCQGGQETQ	WAEPGSVITQGSLVTLRCQGGQETQ	6.0	7.0	unscreened	-	3998_19:55143011-55143011 C>T_WAEPGSVITQGSLVTLRCQGGQETQ
17:18702237-18702237 C>T	1.0	3998	MELANOMA	-	-	-	-	TVP23B	ENST00000574226,p.S148F|ENST00000581733,p.S84F|NM_016078,p.S148F|uc002gum.2,p.S148F|ENST00000307767,p.S148F|ENST00000476139,p.S84F|ENST00000575261,p.S84F	retained_intron, protein_coding, nonsense_mediated_decay	uc002gum.2	nonsynonymous SNV	exon5	c.C443T	p.S148F	VLWVIFAFSALFSFRVKWLAVVIMG	VLWVIFAFSALFFFRVKWLAVVIMG	8.0	1.0	-	-	3998_17:18702237-18702237 C>T_VLWVIFAFSALFFFRVKWLAVVIMG
1:196438197-196438197 C>T	1.0	3998	MELANOMA	-	-	-	-	KCNT2	ENST00000367433,p.G129E|uc001gte.1,p.G129E|ENST00000367431,p.G129E|ENST00000294725,p.G129E|NM_001287820,p.G129E|uc001gtd.1,p.G129E|NM_001287819,p.G129E|uc009wyu.3,p.G129E|uc001gtf.1,p.G129E|NM_198503,p.G129E	protein_coding, processed_transcript	uc009wyu.3	nonsynonymous SNV	exon6	c.G386A	p.G129E	FETILLGYLSYKGNIWEQILRIPFI	FETILLGYLSYKENIWEQILRIPFI	6.0	1.0	-	-	3998_1:196438197-196438197 C>T_FETILLGYLSYKENIWEQILRIPFI
12:40717004-40717004 C>T	1.0	3998	MELANOMA	-	-	-	-	LRRK2	uc001rmg.4,p.P1851L|uc009zjw.3,p.P689L|ENST00000298910,p.P1851L|uc001rmi.3,p.P684L|NM_198578,p.P1851L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zjw.3	nonsynonymous SNV	exon17	c.C2066T	p.P689L	LLVNPDQPRLTIPISQIAPDLILAD	LLVNPDQPRLTILISQIAPDLILAD	7.0	9.0	-	-	3998_12:40717004-40717004 C>T_LLVNPDQPRLTILISQIAPDLILAD
4:25353250-25353250 C>T	0.0	3998	MELANOMA	-	-	-	-	ZCCHC4	uc003grl.4,p.P317L|ENST00000302874,p.P317L|NM_024936,p.P317L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003grl.4	nonsynonymous SNV	exon8	c.C950T	p.P317L	DSHKELPIFWIFPYFFESRICQFFP	DSHKELPIFWIFLYFFESRICQFFP	5.0	1.0	unscreened	-	3998_4:25353250-25353250 C>T_DSHKELPIFWIFLYFFESRICQFFP
20:49508156-49508156 G>A	1.0	3998	MELANOMA	-	-	-	-	ADNP	ENST00000396032,p.S1032F|uc002xvt.1,p.S1032F|uc002xvu.1,p.S1032F|NM_181442,p.S1032F|ENST00000349014,p.S1032F|NM_015339,p.S1032F|ENST00000371602,p.S1032F|ENST00000396029,p.S1032F|NM_001282532,p.S1032F|NM_001282531,p.S1032F	protein_coding	uc002xvu.1	nonsynonymous SNV	exon4	c.C3095T	p.S1032F	QGDREQLKWKNSSYGKVEGFWSKDQ	QGDREQLKWKNSFYGKVEGFWSKDQ	9.0	2.0	-	-	3998_20:49508156-49508156 G>A_QGDREQLKWKNSFYGKVEGFWSKDQ
1:98015204-98015204 C>T	0.0	3998	MELANOMA	-	-	-	-	DPYD	uc001drv.3,p.G479D|ENST00000370192,p.G479D|NM_000110,p.G479D	protein_coding, processed_transcript	uc001drv.3	nonsynonymous SNV	exon12	c.G1436A	p.G479D	ETMQTSEAWVFAGGDVVGLANTTVE	ETMQTSEAWVFADGDVVGLANTTVE	7.0	2.0	unscreened	-	3998_1:98015204-98015204 C>T_ETMQTSEAWVFADGDVVGLANTTVE
19:39105041-39105041 C>T	0.0	3998	MELANOMA	-	-	-	-	MAP4K1	ENST00000589130,p.E116K|ENST00000396857,p.E120K|uc002oiy.1,p.E120K|NM_001042600,p.E120K|NM_007181,p.E120K|ENST00000586296,p.E120K|ENST00000591517,p.E120K|uc002oix.1,p.E120K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002oiy.1	nonsynonymous SNV	exon5	c.G358A	p.E120K	SLSELQISYVCREVLQGLAYLHSQK	SLSELQISYVCRKVLQGLAYLHSQK	6.0	2.0	unscreened	-	3998_19:39105041-39105041 C>T_SLSELQISYVCRKVLQGLAYLHSQK
19:38951115-38951115 C>T	0.0	3998	MELANOMA	-	-	-	-	RYR1	ENST00000355481,p.H821Y|NM_001042723,p.H821Y|uc002oit.3,p.H821Y|ENST00000359596,p.H821Y|NM_000540,p.H821Y|uc002oiu.3,p.H821Y|ENST00000360985,p.H821Y	retained_intron, protein_coding, nonsense_mediated_decay	uc002oiu.3	nonsynonymous SNV	exon20	c.C2461T	p.H821Y	PCHEAVLPRERLHLEPIKEYRREGP	PCHEAVLPRERLYLEPIKEYRREGP	5.0	9.0	-	-	3998_19:38951115-38951115 C>T_PCHEAVLPRERLYLEPIKEYRREGP
18:61569661-61569661 G>A	0.0	3998	MELANOMA	-	-	-	-	SERPINB2	uc002ljq.1,p.M39I|ENST00000299502,p.M234I|NM_002575,p.M234I|ENST00000457692,p.M234I|uc002ljp.1,p.M39I|uc002ljo.3,p.M234I|NM_001143818,p.M234I|uc010xeu.2,p.M234I	protein_coding, processed_transcript	uc010xeu.2	nonsynonymous SNV	exon8	c.G702A	p.M234I	FRVNSAQRTPVQMMYLREKLNIGYI	FRVNSAQRTPVQIMYLREKLNIGYI	1.0	5.0	unscreened	-	3998_18:61569661-61569661 G>A_FRVNSAQRTPVQIMYLREKLNIGYI
9:22008904-22008904 C>G	1.0	3998	MELANOMA	-	-	-	-	CDKN2B	NM_078487,p.G17R|ENST00000276925,p.G17R|NM_004936,p.G17R|uc003zpo.3,p.G17R|uc022beo.1,p.G17R|uc003zpn.3,p.G17R|ENST00000539462,p.G17R|ENST00000380142,p.G17R	retained_intron, protein_coding	uc022beo.1	nonsynonymous SNV	exon1	c.G49C	p.G17R	NKGMPSGGGSDEGLASAAARGLVEK	NKGMPSGGGSDERLASAAARGLVEK	7.0	10.0	unscreened	-	3998_9:22008904-22008904 C>G_NKGMPSGGGSDERLASAAARGLVEK
1:150483541-150483541 C>T	0.0	3998	MELANOMA	-	-	-	-	ECM1	uc010pcf.2,p.P114L|uc001eut.3,p.P192L|NM_022664,p.P192L|uc010pce.2,p.P121L|ENST00000346569,p.P192L|NM_001202858,p.P219L|uc001euv.3,p.P219L|ENST00000369047,p.P192L|ENST00000369049,p.P219L|uc001eus.3,p.P192L|NM_004425,p.P192L	protein_coding, processed_transcript	uc010pcf.2	nonsynonymous SNV	exon6	c.C341T	p.P114L	ICLPNRQHVVYGPWNLPQSSYSHLT	ICLPNRQHVVYGLWNLPQSSYSHLT	6.0	6.0	unscreened	-	3998_1:150483541-150483541 C>T_ICLPNRQHVVYGLWNLPQSSYSHLT
20:23586444-23586444 C>T	0.0	3998	MELANOMA	-	-	-	-	CST9	NM_001008693,p.G20S|uc002wtl.3,p.G20S|ENST00000376971,p.G20S	protein_coding	uc002wtl.3	nonsynonymous SNV	exon1	c.G58A	p.G20S	KAMPWALSLLLMGFQLLVTYAWCSE	KAMPWALSLLLMSFQLLVTYAWCSE	1.0	10.0	-	-	3998_20:23586444-23586444 C>T_KAMPWALSLLLMSFQLLVTYAWCSE
4:42590311-42590311 T>C	0.0	3998	MELANOMA	-	-	-	-	ATP8A1	uc003gws.2,p.N187S|NM_001105529,p.N187S|ENST00000264449,p.N187S|NM_006095,p.N187S|uc011byz.1,p.N187S|ENST00000381668,p.N187S|uc003gwr.2,p.N187S	retained_intron, protein_coding, nonsense_mediated_decay	uc011byz.1	nonsynonymous SNV	exon8	c.A560G	p.N187S	SEPQAMCYIETSNLDGETNLKIRQG	SEPQAMCYIETSSLDGETNLKIRQG	7.0	4.0	unscreened	-	3998_4:42590311-42590311 T>C_SEPQAMCYIETSSLDGETNLKIRQG
18:5415869-5415869 G>A	0.0	3998	MELANOMA	-	-	-	-	EPB41L3	NM_012307,p.A672V|ENST00000341928,p.A672V|ENST00000342933,p.A672V|uc002kmt.1,p.A672V	retained_intron, protein_coding, processed_transcript	uc002kmt.1	nonsynonymous SNV	exon13	c.C2015T	p.A672V	LALCLCYLEPKAASLSASLDNDPSD	LALCLCYLEPKAVSLSASLDNDPSD	10.0	4.0	unscreened	-	3998_18:5415869-5415869 G>A_LALCLCYLEPKAVSLSASLDNDPSD
4:41621307-41621307 C>T	0.0	3998	MELANOMA	-	-	-	-	LIMCH1	NM_001112720,p.S108L|uc003gwe.4,p.S262L|ENST00000381753,p.S108L|ENST00000396595,p.S108L|ENST00000508501,p.S262L|ENST00000313860,p.S262L|uc003gwc.4,p.S108L|NM_001289122,p.S262L|NM_001112718,p.S262L|ENST00000512632,p.S262L|uc003gvz.4,p.S103L|uc011byv.2,p.S13L|ENST00000509277,p.S108L|uc003gvx.4,p.S262L|uc011byu.2,p.S108L|NM_001112719,p.S108L|ENST00000503057,p.S103L|ENST00000512946,p.S262L|ENST00000513024,p.S103L|uc003gvv.4,p.S262L|ENST00000509454,p.S110L|uc003gvt.1,p.S103L|uc003gwa.4,p.S103L|ENST00000514096,p.S115L|ENST00000512820,p.S262L|ENST00000446625,p.S103L|uc003gvy.4,p.S103L|uc003gwd.4,p.S108L|uc003gvw.4,p.S262L|NM_001289124,p.S103L|uc003gwb.1,p.S110L|ENST00000509638,p.S103L|uc003gvu.4,p.S262L|NM_001112717,p.S262L|ENST00000511496,p.S103L|NM_014988,p.S262L	protein_coding, processed_transcript	uc011byv.2	nonsynonymous SNV	exon2	c.C38T	p.S13L	MSARRTSHGEPKSAVPFNQYLPNKS	MSARRTSHGEPKLAVPFNQYLPNKS	5.0	7.0	unscreened	-	3998_4:41621307-41621307 C>T_MSARRTSHGEPKLAVPFNQYLPNKS
19:18120604-18120604 C>T	1.0	3998	MELANOMA	-	-	-	-	ARRDC2	uc002nhv.3,p.P202L|ENST00000379656,p.P197L|NM_001025604,p.P197L|uc002nhu.3,p.P197L|NM_001286826,p.P202L|NM_015683,p.P202L|ENST00000222250,p.P202L	retained_intron, protein_coding, processed_transcript	uc002nhv.3	nonsynonymous SNV	exon5	c.C605T	p.P202L	IDRKGYTPGEVIPVFAEIDNGSTRP	IDRKGYTPGEVILVFAEIDNGSTRP	7.0	6.0	-	-	3998_19:18120604-18120604 C>T_IDRKGYTPGEVILVFAEIDNGSTRP
9:138836924-138836924 C>T	1.0	3998	MELANOMA	-	-	-	-	UBAC1	uc004cgt.3,p.E276K|NM_016172,p.E276K|ENST00000371756,p.E276K	protein_coding, processed_transcript	uc004cgt.3	nonsynonymous SNV	exon7	c.G826A	p.E276K	SATDEEARDELTEIFKKIRRKREFR	SATDEEARDELTKIFKKIRRKREFR	8.0	5.0	-	-	3998_9:138836924-138836924 C>T_SATDEEARDELTKIFKKIRRKREFR
16:10996560-10996560 G>A	0.0	3998	MELANOMA	-	-	-	1	CIITA	uc002dah.2,p.G177E|ENST00000324288,p.G225E|uc010bup.1,p.G225E|uc002dak.4,p.G176E|uc002daj.4,p.G226E|uc002dag.2,p.G225E|ENST00000381835,p.G176E|uc002dai.4,p.G225E|NM_001286403,p.G176E|NM_001286402,p.G226E|NM_000246,p.G225E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bup.1	nonsynonymous SNV	exon8	c.G674A	p.G225E	SSSSLSCLNLPEGPIQFVPTISTLP	SSSSLSCLNLPEEPIQFVPTISTLP	8.0	10.0	-	-	3998_16:10996560-10996560 G>A_SSSSLSCLNLPEEPIQFVPTISTLP
17:58133502-58133502 G>A	1.0	3998	MELANOMA	-	-	-	-	HEATR6	NM_022070,p.P726S|uc002iyk.1,p.P726S|ENST00000184956,p.P726S|uc010ddk.1,p.P265S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ddk.1	nonsynonymous SNV	exon5	c.C793T	p.P265S	GEVICKCMGEADPSIQLHGAKLLEE	GEVICKCMGEADSSIQLHGAKLLEE	7.0	4.0	-	-	3998_17:58133502-58133502 G>A_GEVICKCMGEADSSIQLHGAKLLEE
3:196842799-196842799 G>A	1.0	3998	MELANOMA	-	-	-	-	DLG1	uc003fxo.4,p.S514L|NM_001098424,p.S514L|uc010ial.3,p.S514L|ENST00000450955,p.S481L|ENST00000346964,p.S514L|uc011bue.2,p.S481L|NM_001290983,p.S514L|ENST00000422288,p.S463L|uc011bub.2,p.S398L|ENST00000419354,p.S514L|NM_001204387,p.S398L|NM_004087,p.S514L|ENST00000357674,p.S481L|ENST00000392381,p.S514L|uc011bud.2,p.S197L|NM_001204386,p.S481L|ENST00000452595,p.S398L|uc010iam.1,p.S481L|ENST00000392382,p.S481L|ENST00000314062,p.S463L|NM_001204388,p.S398L|uc003fxn.4,p.S514L|uc011buc.2,p.S398L|ENST00000443183,p.S398L|ENST00000448528,p.S514L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bue.2	nonsynonymous SNV	exon13	c.C1442T	p.S481L	LSGELRKGDRIISVNSVDLRAASHE	LSGELRKGDRIILVNSVDLRAASHE	10.0	8.0	-	-	3998_3:196842799-196842799 G>A_LSGELRKGDRIILVNSVDLRAASHE
6:158576373-158576373 T>C	0.0	3998	MELANOMA	-	-	-	-	SERAC1	uc003qrc.2,p.I34M|ENST00000367101,p.I34M|ENST00000367102,p.I34M|ENST00000607000,p.I34M|NM_032861,p.I34M|ENST00000367104,p.I34M|uc031sqr.1,p.I34M|ENST00000606965,p.I34M	protein_coding	uc031sqr.1	nonsynonymous SNV	exon2	c.A102G	p.I34M	KSGTHWRDIRNIIKFTGSLILGGSL	KSGTHWRDIRNIMKFTGSLILGGSL	5.0	10.0	-	-	3998_6:158576373-158576373 T>C_KSGTHWRDIRNIMKFTGSLILGGSL
8:56863316-56863316 C>T	0.0	3998	MELANOMA	-	-	-	-	LYN	uc003xsk.4,p.L154F|uc003xsl.4,p.L133F|NM_001111097,p.L133F|NM_002350,p.L154F|ENST00000520220,p.L133F|ENST00000519728,p.L154F	protein_coding, processed_transcript	uc003xsl.4	nonsynonymous SNV	exon6	c.C397T	p.L133F	QLLAPGNSAGAFLIRESETLKGSFS	QLLAPGNSAGAFFIRESETLKGSFS	8.0	3.0	unscreened	-	3998_8:56863316-56863316 C>T_QLLAPGNSAGAFFIRESETLKGSFS
11:6190791-6190791 G>A	0.0	3998	MELANOMA	-	-	-	-	OR52B2	ENST00000530810,p.P256S|uc010qzy.2,p.P256S|NM_001004052,p.P256S	protein_coding	uc010qzy.2	nonsynonymous SNV	exon1	c.C766T	p.P256S	GSHLCVILMFYVPSFFTLLTHHFGR	GSHLCVILMFYVSSFFTLLTHHFGR	1.0	6.0	unscreened	-	3998_11:6190791-6190791 G>A_GSHLCVILMFYVSSFFTLLTHHFGR
11:86119203-86119203 G>A	0.0	3998	MELANOMA	-	-	ID=COSM1176600,COSM1176599;OCCURENCE=1(endometrium),2(skin)	-	CCDC81	NM_021827,p.R245Q|ENST00000445632,p.R335Q|uc010rtq.2,p.R118Q|NM_001156474,p.R335Q|uc001pbx.2,p.R335Q|uc001pbw.2,p.R245Q|ENST00000354755,p.R245Q	retained_intron, protein_coding	uc010rtq.2	nonsynonymous SNV	exon5	c.G353A	p.R118Q	QEMCYVCLQRAQRNSLLYYSEERRR	QEMCYVCLQRAQQNSLLYYSEERRR	2.0	2.0	unscreened	-	3998_11:86119203-86119203 G>A_QEMCYVCLQRAQQNSLLYYSEERRR
11:121461713-121461713 C>T	0.0	3998	MELANOMA	-	-	-	-	SORL1	uc010rzq.1,p.S21L|ENST00000527934,p.S21L	retained_intron, protein_coding, processed_transcript	uc010rzq.1	nonsynonymous SNV	exon2	c.C62T	p.S21L	QSCASHWPPSADSHILPFSTPGPST	QSCASHWPPSADLHILPFSTPGPST	7.0	5.0	unscreened	-	3998_11:121461713-121461713 C>T_QSCASHWPPSADLHILPFSTPGPST
11:58378506-58378506 C>T	1.0	3998	MELANOMA	-	-	-	-	ZFP91	ENST00000422974,p.T61I|uc001nmx.4,p.T234I|ENST00000389919,p.T234I|NM_001197051,p.T233I|NM_053023,p.T234I|ENST00000316059,p.T234I|uc001nmy.4,p.T233I	protein_coding	uc001nmy.4	nonsynonymous SNV	exon5	c.C698T	p.T233I	EEIPFKDDPRDETYKPHLERETPKP	EEIPFKDDPRDEIYKPHLERETPKP	9.0	5.0	-	-	3998_11:58378506-58378506 C>T_EEIPFKDDPRDEIYKPHLERETPKP
11:134048749-134048749 G>A	0.0	3998	MELANOMA	-	-	-	-	NCAPD3	uc001qhd.1,p.S881F|ENST00000534548,p.S881F|ENST00000534532,p.S881F|NM_015261,p.S881F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001qhd.1	nonsynonymous SNV	exon21	c.C2642T	p.S881F	ARVEKRIFLLIQSVLASSADADHSP	ARVEKRIFLLIQFVLASSADADHSP	8.0	4.0	unscreened	-	3998_11:134048749-134048749 G>A_ARVEKRIFLLIQFVLASSADADHSP
16:77398264-77398264 G>A	0.0	3998	MELANOMA	-	-	-	-	ADAMTS18	uc002ffc.4,p.P265S|ENST00000282849,p.P265S|NM_199355,p.P265S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ffc.4	nonsynonymous SNV	exon5	c.C793T	p.P265S	FCGRRKKYAPKPPTEDTYLRFDEYG	FCGRRKKYAPKPSTEDTYLRFDEYG	1.0	9.0	-	-	3998_16:77398264-77398264 G>A_FCGRRKKYAPKPSTEDTYLRFDEYG
20:61597912-61597912 C>T	0.0	3998	MELANOMA	-	-	-	-	SLC17A9	uc002ydz.4,p.S360F|ENST00000370351,p.S366F|uc002yea.4,p.S366F|NM_022082,p.S366F|uc011aap.1,p.S386F|ENST00000370349,p.S360F	protein_coding, processed_transcript	uc011aap.1	nonsynonymous SNV	exon11	c.C1157T	p.S386F	SGISVNIQDLAPSCAGFLFGVANTA	SGISVNIQDLAPFCAGFLFGVANTA	5.0	2.0	unscreened	-	3998_20:61597912-61597912 C>T_SGISVNIQDLAPFCAGFLFGVANTA
4:183664338-183664338 G>A	1.0	3998	MELANOMA	-	-	-	-	TENM3	ENST00000406950,p.G1132E|uc003ivd.1,p.G1132E|ENST00000511685,p.G1132E|uc003ive.1,p.G538E|NM_001080477,p.G1132E	retained_intron, protein_coding, processed_transcript	uc003ive.1	nonsynonymous SNV	exon11	c.G1613A	p.G538E	HVLDVQNGILYKGNGENQFISQQPP	HVLDVQNGILYKENGENQFISQQPP	9.0	5.0	-	-	3998_4:183664338-183664338 G>A_HVLDVQNGILYKENGENQFISQQPP
2:185802432-185802432 G>A	0.0	3998	MELANOMA	-	-	ID=COSM73496;OCCURENCE=1(skin),1(ovary),2(NS)	-	ZNF804A	NM_194250,p.R770Q|uc002uph.3,p.R770Q|ENST00000302277,p.R770Q	protein_coding	uc002uph.3	nonsynonymous SNV	exon4	c.G2309A	p.R770Q	YNSVMNESERFYRKRRQHSHSYSSD	YNSVMNESERFYQKRRQHSHSYSSD	1.0	6.0	unscreened	-	3998_2:185802432-185802432 G>A_YNSVMNESERFYQKRRQHSHSYSSD
8:73848631-73848631 G>A	0.0	3998	MELANOMA	-	-	-	-	KCNB2	uc003xzb.3,p.M347I|ENST00000523207,p.M347I|NM_004770,p.M347I	protein_coding	uc003xzb.3	nonsynonymous SNV	exon3	c.G1041A	p.M347I	LGLLILFLAMGIMIFSSLVFFAEKD	LGLLILFLAMGIIIFSSLVFFAEKD	1.0	2.0	unscreened	-	3998_8:73848631-73848631 G>A_LGLLILFLAMGIIIFSSLVFFAEKD
7:127240306-127240306 G>A	0.0	3998	MELANOMA	-	-	-	-	FSCN3	ENST00000420086,p.V315I|uc011koh.1,p.V315I|uc010llc.2,p.V449I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011koh.1	nonsynonymous SNV	exon7	c.G943A	p.V315I	NNILWHLSPLGQVCPQLLYRASGEQ	NNILWHLSPLGQICPQLLYRASGEQ	1.0	6.0	unscreened	-	3998_7:127240306-127240306 G>A_NNILWHLSPLGQICPQLLYRASGEQ
7:141843650-141843650 C>T	0.0	3998	MELANOMA	-	-	-	-	LOC93432	ENST00000477922,p.H467Y|NM_001293626,p.H467Y	retained_intron, protein_coding	NM_001293626	nonsynonymous SNV	exon13	c.C1399T	p.H467Y	CTEWWTDQVAKFHDHLEFDGVWIEM	CTEWWTDQVAKFYDHLEFDGVWIEM	1.0	3.0	unscreened	-	3998_7:141843650-141843650 C>T_CTEWWTDQVAKFYDHLEFDGVWIEM
7:141843650-141843650 C>T	0.0	3998	MELANOMA	-	-	-	-	LOC93432	ENST00000550469,p.H467Y|uc003vwz.3,p.H467Y	retained_intron, protein_coding	uc003vwz.3	nonsynonymous SNV	exon13	c.C1399T	p.H467Y	CTEWWTDQVAKFHDHLEFDGVWIVS	CTEWWTDQVAKFYDHLEFDGVWIVS	1.0	3.0	unscreened	-	3998_7:141843650-141843650 C>T_CTEWWTDQVAKFYDHLEFDGVWIVS
12:107713729-107713729 C>T	0.0	3998	MELANOMA	-	-	-	-	BTBD11	uc001tmj.3,p.H338Y|uc009zut.1,p.H338Y|ENST00000490090,p.H338Y|ENST00000550706,p.H19Y|NM_001018072,p.H338Y|ENST00000280758,p.H338Y|uc001tmk.1,p.H338Y|ENST00000420571,p.H338Y	protein_coding	uc009zut.1	nonsynonymous SNV	exon1	c.C1012T	p.H338Y	PAAAANHHHHHHHALHEAPKFTVET	PAAAANHHHHHHYALHEAPKFTVET	2.0	3.0	unscreened	-	3998_12:107713729-107713729 C>T_PAAAANHHHHHHYALHEAPKFTVET
11:108385364-108385364 C>A	0.0	3998	MELANOMA	-	-	-	-	EXPH5	ENST00000265843,p.R290S|ENST00000533052,p.R102S|ENST00000428840,p.R214S|ENST00000443411,p.R102S|ENST00000525344,p.R283S|NM_015065,p.R290S|uc001pkk.3,p.R290S|ENST00000526312,p.R214S|uc010rvz.2,p.R134S|uc010rvy.2,p.R102S	protein_coding, processed_transcript	uc010rvz.2	nonsynonymous SNV	exon4	c.G402T	p.R134S	GTPREGFKTFSPRTSTIYDMYRTRE	GTPREGFKTFSPSTSTIYDMYRTRE	4.0	7.0	unscreened	-	3998_11:108385364-108385364 C>A_GTPREGFKTFSPSTSTIYDMYRTRE
10:95518552-95518552 A>T	0.0	3998	MELANOMA	-	-	-	-	LGI1	uc010qnv.2,p.E84V|uc001kjc.4,p.E84V|ENST00000542308,p.E84V|NM_005097,p.E84V|uc021pwk.1,p.E84V|ENST00000371413,p.E84V|ENST00000371418,p.E84V	protein_coding, processed_transcript	uc021pwk.1	nonsynonymous SNV	exon2	c.A251T	p.E84V	LSFVRSGFTEISEGSFLFTPSLQLL	LSFVRSGFTEISVGSFLFTPSLQLL	2.0	9.0	unscreened	-	3998_10:95518552-95518552 A>T_LSFVRSGFTEISVGSFLFTPSLQLL
11:9735069-9735069 ->A	1.0	3998	MELANOMA	-	-	-	-	SWAP70	ENST00000318950,p.V99fs|uc001mhw.3,p.V99fs|NM_015055,p.V99fs|uc001mhv.3,p.V99fs	retained_intron, protein_coding, nonsense_mediated_decay	uc001mhw.3	frameshift insertion	exon3	c.298dupA	p.V99fs	KIEFNRMCWTLCVKKNLTKNPLLIT	KIEFNRMCWTLCVKKKPHKESPAHYRRRCI	10.0	2.0	-	-	3998_11:9735069-9735069 ->A_KIEFNRMCWTLCVKKKPHKESPAHYRRRCI
1:197160876-197160876 G>A	1.0	3998	MELANOMA	-	-	-	-	ZBTB41	uc001gtx.1,p.P425L|ENST00000367405,p.P425L|NM_194314,p.P425L	protein_coding, processed_transcript	uc001gtx.1	nonsynonymous SNV	exon2	c.C1274T	p.P425L	NETEFHKKEHKCPYCNKLHASKKTL	NETEFHKKEHKCLYCNKLHASKKTL	8.0	4.0	-	-	3998_1:197160876-197160876 G>A_NETEFHKKEHKCLYCNKLHASKKTL
16:71163656-71163656 G>A	0.0	3998	MELANOMA	-	-	-	-	HYDIN	uc010cfz.2,p.P117S|ENST00000321489,p.P372S|ENST00000448089,p.P372S|NM_001198542,p.P399S|uc010vmc.2,p.P389S|ENST00000448691,p.P372S|ENST00000538248,p.P399S|ENST00000288168,p.P389S|ENST00000541601,p.P389S|uc031qwy.1,p.P372S|uc010vmd.2,p.P399S|NM_001198543,p.P389S|ENST00000545230,p.P160S|uc002ezw.4,p.P389S|ENST00000393567,p.P372S|ENST00000393550,p.P372S|uc021tkq.2,p.P372S|NM_001270974,p.P372S|NM_017558,p.P372S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon9	c.C1114T	p.P372S	ETDEFFEECITDPLLREHLSVLSRT	ETDEFFEECITDSLLREHLSVLSRT	4.0	2.0	unscreened	-	3998_16:71163656-71163656 G>A_ETDEFFEECITDSLLREHLSVLSRT
7:100304776-100304776 T>C	1.0	3998	MELANOMA	-	-	-	-	POP7	uc003uwh.4,p.V108A|NM_005837,p.V108A|ENST00000457480,p.V108A|uc022ais.1,p.V108A|ENST00000303151,p.V108A	protein_coding	uc022ais.1	nonsynonymous SNV	exon1	c.T323C	p.V108A	LQVAANTSTVELVDELEPETDTREP	LQVAANTSTVELADELEPETDTREP	7.0	6.0	-	-	3998_7:100304776-100304776 T>C_LQVAANTSTVELADELEPETDTREP
15:101009652-101009652 G>A	0.0	3998	MELANOMA	-	-	-	-	CERS3	ENST00000538112,p.T259I|ENST00000284382,p.T259I|NM_001290342,p.T259I|uc002bvz.3,p.T259I|uc002bwa.3,p.T270I|NM_001290341,p.T270I|uc002bwb.3,p.T259I|NM_001290343,p.T259I|ENST00000394113,p.T259I|uc031quk.1,p.T259I|NM_178842,p.T259I	retained_intron, protein_coding, processed_transcript	uc031quk.1	nonsynonymous SNV	exon11	c.C776T	p.T259I	SAKMFSYAGWTQTCNTLFFIFSTIF	SAKMFSYAGWTQICNTLFFIFSTIF	1.0	4.0	unscreened	-	3998_15:101009652-101009652 G>A_SAKMFSYAGWTQICNTLFFIFSTIF
1:18688708-18688708 G>A	0.0	3998	MELANOMA	-	-	-	-	IGSF21	ENST00000251296,p.G175E|NM_032880,p.G175E|uc001bau.2,p.G175E	retained_intron, protein_coding, processed_transcript	uc001bau.2	nonsynonymous SNV	exon5	c.G524A	p.G175E	AQNFTLVCIVSGGKPAPMVYFKRDG	AQNFTLVCIVSGEKPAPMVYFKRDG	3.0	9.0	unscreened	-	3998_1:18688708-18688708 G>A_AQNFTLVCIVSGEKPAPMVYFKRDG
8:57216563-57216563 C>T	0.0	3998	MELANOMA	-	-	-	-	SDR16C5	ENST00000522671,p.R306Q|uc010lyk.1,p.R306Q	protein_coding	uc010lyk.1	nonsynonymous SNV	exon7	c.G917A	p.R306Q	MWDRAKDPGQAIRNSGLRSHYSLSL	MWDRAKDPGQAIQNSGLRSHYSLSL	1.0	5.0	unscreened	-	3998_8:57216563-57216563 C>T_MWDRAKDPGQAIQNSGLRSHYSLSL
17:48735808-48735808 G>A	0.0	3998	MELANOMA	-	-	-	-	ABCC3	ENST00000502426,p.E209K|ENST00000427699,p.E209K|NM_003786,p.E209K|ENST00000285238,p.E209K|NM_001144070,p.E209K|uc002isl.3,p.E209K|uc002isk.4,p.E209K|ENST00000505699,p.E209K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002isl.3	nonsynonymous SNV	exon6	c.G625A	p.E209K	FSAKNVDPNPYPETSAGFLSRLFFW	FSAKNVDPNPYPKTSAGFLSRLFFW	6.0	8.0	-	-	3998_17:48735808-48735808 G>A_FSAKNVDPNPYPKTSAGFLSRLFFW
13:36180669-36180669 C>T	1.0	3998	MELANOMA	-	-	-	2	NBEA	uc010teg.1,p.P261L|ENST00000379939,p.P2465L|ENST00000400445,p.P2468L|uc010tef.2,p.P261L|NM_001204197,p.P261L|ENST00000537702,p.P261L|uc021rid.1,p.P2468L|ENST00000379922,p.P25L|uc010abi.3,p.P1124L|ENST00000540320,p.P2468L|NM_015678,p.P2468L|ENST00000310336,p.P2468L|uc010tee.1,p.P261L|uc001uvd.3,p.P25L	protein_coding, processed_transcript	uc021rid.1	nonsynonymous SNV	exon48	c.C7403T	p.P2468L	REDEVVVNDVDLPPWAKKPEDFVRI	REDEVVVNDVDLLPWAKKPEDFVRI	6.0	6.0	-	-	3998_13:36180669-36180669 C>T_REDEVVVNDVDLLPWAKKPEDFVRI
2:234079217-234079217 G>A	0.0	3998	MELANOMA	-	-	-	-	INPP5D	ENST00000359570,p.E611K|ENST00000445964,p.E244K|ENST00000435188,p.E244K|ENST00000455936,p.E375K|ENST00000450745,p.E375K|ENST00000415617,p.E244K	retained_intron, protein_coding, processed_transcript	ENST00000455936	nonsynonymous SNV	exon11	c.G1123A	p.E375K	YADLLSHDQLLTERREQKVFLHFEE	YADLLSHDQLLTKRREQKVFLHFEE	8.0	9.0	-	-	3998_2:234079217-234079217 G>A_YADLLSHDQLLTKRREQKVFLHFEE
11:45671392-45671392 C>T	0.0	3998	MELANOMA	-	-	-	-	CHST1	uc021qgn.1,p.R361H|NM_003654,p.R361H|uc001mys.2,p.R361H|ENST00000308064,p.R361H	retained_intron, protein_coding, processed_transcript	uc021qgn.1	nonsynonymous SNV	exon1	c.G1082A	p.R361H	TVRNSAATAEKWRFRLSYDIVAFAQ	TVRNSAATAEKWHFRLSYDIVAFAQ	3.0	4.0	unscreened	-	3998_11:45671392-45671392 C>T_TVRNSAATAEKWHFRLSYDIVAFAQ
7:44578620-44578620 G>A	0.0	3998	MELANOMA	-	-	-	-	NPC1L1	uc003tlc.3,p.P459L|ENST00000546276,p.P459L|NM_001300967,p.P459L|NM_013389,p.P459L|uc011kbw.2,p.P459L|ENST00000289547,p.P459L|NM_001101648,p.P459L|uc003tlb.3,p.P459L|ENST00000381160,p.P459L|uc003tld.3,p.P459L|ENST00000423141,p.P459L	protein_coding	uc011kbw.2	nonsynonymous SNV	exon2	c.C1376T	p.P459L	LQERLRHLQVWSPEAQRNISLQDIC	LQERLRHLQVWSLEAQRNISLQDIC	1.0	8.0	-	-	3998_7:44578620-44578620 G>A_LQERLRHLQVWSLEAQRNISLQDIC
19:1979950-1979950 C>T	1.0	3998	MELANOMA	-	-	-	-	CSNK1G2	NM_001319,p.P376L|ENST00000255641,p.P376L|uc010dsu.3,p.P328L|uc002lul.4,p.P376L	retained_intron, protein_coding, processed_transcript	uc010dsu.3	nonsynonymous SNV	exon11	c.C983T	p.P328L	LNSTNGELNADDPTAGHSNAPITAP	LNSTNGELNADDLTAGHSNAPITAP	9.0	6.0	unscreened	-	3998_19:1979950-1979950 C>T_LNSTNGELNADDLTAGHSNAPITAP
15:80454635-80454635 G>A	1.0	3998	MELANOMA	0.0009	-	-	-	FAH	uc010unl.2,p.R159Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010unl.2	nonsynonymous SNV	exon6	c.G476A	p.R159Q	RLLFLSAACYQRRNHVQGQGECVDA	RLLFLSAACYQRQNHVQGQGECVDA	8.0	4.0	-	-	3998_15:80454635-80454635 G>A_RLLFLSAACYQRQNHVQGQGECVDA
16:84256614-84256614 G>A	0.0	3998	MELANOMA	-	-	-	-	KCNG4	NM_172347,p.R257W|ENST00000308251,p.R257W|uc010voc.2,p.R257W	protein_coding	uc010voc.2	nonsynonymous SNV	exon3	c.C769T	p.R257W	DLRAEEDQGECSRKCYYIFIVETIC	DLRAEEDQGECSWKCYYIFIVETIC	1.0	9.0	-	-	3998_16:84256614-84256614 G>A_DLRAEEDQGECSWKCYYIFIVETIC
15:40568215-40568215 C>T	0.0	3998	MELANOMA	-	-	-	-	PAK6	uc001zky.4,p.P611S|ENST00000560346,p.P656S|NM_020168,p.P656S|NM_001276718,p.P611S|NM_001128629,p.P656S|ENST00000453867,p.P656S|ENST00000441369,p.P656S|uc010bbn.4,p.P656S|ENST00000542403,p.P656S|NM_001276717,p.P656S|uc010bbl.3,p.P656S|uc010bbm.3,p.P656S|ENST00000455577,p.P611S|ENST00000260404,p.P656S|uc001zlb.3,p.P656S|NM_001128628,p.P656S	retained_intron, protein_coding, processed_transcript	uc010bbn.4	nonsynonymous SNV	exon11	c.C1966T	p.P656S	QERATAQELLDHPFLLQTGLPECLV	QERATAQELLDHSFLLQTGLPECLV	2.0	1.0	unscreened	-	3998_15:40568215-40568215 C>T_QERATAQELLDHSFLLQTGLPECLV
3:146311832-146311832 G>A	0.0	3998	MELANOMA	-	-	-	-	PLSCR5	uc010hvb.3,p.R98C|ENST00000482567,p.R98C|ENST00000492200,p.R110C|uc010hvc.3,p.R110C|ENST00000443512,p.R110C|NM_001085420,p.R110C	protein_coding	uc010hvc.3	nonsynonymous SNV	exon4	c.C328T	p.R110C	IYFAVEESICFNRTFCSTLRSCTLR	IYFAVEESICFNCTFCSTLRSCTLR	1.0	7.0	unscreened	-	3998_3:146311832-146311832 G>A_IYFAVEESICFNCTFCSTLRSCTLR
10:95518551-95518551 G>A	0.0	3998	MELANOMA	-	-	-	-	LGI1	uc021pwk.1,p.E84K|uc010qnv.2,p.E84K|ENST00000371418,p.E84K|uc001kjc.4,p.E84K|ENST00000542308,p.E84K|NM_005097,p.E84K|ENST00000371413,p.E84K	protein_coding, processed_transcript	uc021pwk.1	nonsynonymous SNV	exon2	c.G250A	p.E84K	LSFVRSGFTEISEGSFLFTPSLQLL	LSFVRSGFTEISKGSFLFTPSLQLL	2.0	9.0	unscreened	-	3998_10:95518551-95518551 G>A_LSFVRSGFTEISKGSFLFTPSLQLL
15:34634224-34634224 G>A	1.0	3998	MELANOMA	-	-	-	-	NOP10	uc001zie.1,p.T47I|ENST00000328848,p.T47I|NM_018648,p.T47I	protein_coding	uc001zie.1	nonsynonymous SNV	exon2	c.C140T	p.T47I	FSPDDKYSRHRITIKKRFKVLMTQQ	FSPDDKYSRHRIIIKKRFKVLMTQQ	10.0	7.0	-	-	3998_15:34634224-34634224 G>A_FSPDDKYSRHRIIIKKRFKVLMTQQ
11:61058815-61058815 G>A	0.0	3998	MELANOMA	-	-	-	-	VWCE	ENST00000535599,p.P115L	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000535599	nonsynonymous SNV	exon2	c.C344T	p.P115L	VSHLHFSSQPSAPSAVGVASASLPM	VSHLHFSSQPSALSAVGVASASLPM	3.0	1.0	unscreened	-	3998_11:61058815-61058815 G>A_VSHLHFSSQPSALSAVGVASASLPM
19:53668155-53668155 T>C	0.0	3998	MELANOMA	-	-	-	-	ZNF665	NM_024733,p.T530A|ENST00000396424,p.T530A|ENST00000600412,p.T465A|uc010eqm.1,p.T530A	protein_coding, processed_transcript	uc010eqm.1	nonsynonymous SNV	exon4	c.A1588G	p.T530A	ECGKAFSVHSSLTIHQTIHTGQKPY	ECGKAFSVHSSLAIHQTIHTGQKPY	4.0	1.0	unscreened	-	3998_19:53668155-53668155 T>C_ECGKAFSVHSSLAIHQTIHTGQKPY
1:160151487-160151487 G>A	0.0	3998	MELANOMA	-	-	-	-	ATP1A4	ENST00000470705,p.R53Q|uc001fve.4,p.R917Q|NM_001001734,p.R53Q|uc001fvg.3,p.R420Q|uc001fvh.3,p.R53Q|ENST00000368081,p.R917Q|NM_144699,p.R917Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001fvh.3	nonsynonymous SNV	exon2	c.G158A	p.R53Q	EDSYGQQWTYEQRKVVEFTCQTAFF	EDSYGQQWTYEQQKVVEFTCQTAFF	1.0	4.0	unscreened	-	3998_1:160151487-160151487 G>A_EDSYGQQWTYEQQKVVEFTCQTAFF
19:38385453-38385453 G>A	0.0	3998	MELANOMA	-	-	-	-	WDR87	NM_001291088,p.T297I|ENST00000447313,p.T297I|ENST00000303868,p.T258I|NM_031951,p.T258I|uc010efu.2,p.T258I|uc002ohj.2,p.T297I	retained_intron, protein_coding	uc010efu.2	nonsynonymous SNV	exon4	c.C773T	p.T258I	GVICIRSRPEAHTLLTAGSDSLIKE	GVICIRSRPEAHILLTAGSDSLIKE	1.0	2.0	unscreened	-	3998_19:38385453-38385453 G>A_GVICIRSRPEAHILLTAGSDSLIKE
11:5172818-5172818 G>A	0.0	3998	MELANOMA	-	-	-	-	OR52A1	NM_012375,p.S261F|ENST00000328942,p.S261F|uc010qyy.2,p.S261F|ENST00000380367,p.S261F	protein_coding	uc010qyy.2	nonsynonymous SNV	exon1	c.C782T	p.S261F	CVFLQFYLLAFFSFFTHRFGSHISP	CVFLQFYLLAFFFFFTHRFGSHISP	1.0	6.0	unscreened	-	3998_11:5172818-5172818 G>A_CVFLQFYLLAFFFFFTHRFGSHISP
2:231108475-231108475 G>A	0.0	3998	MELANOMA	-	-	-	-	SP140	NM_001278453,p.D174N|uc002vql.3,p.D174N|NM_001278451,p.D174N|ENST00000486687,p.D174N|ENST00000392045,p.D174N|uc002vqn.3,p.D174N|uc010fxl.3,p.D174N|ENST00000420434,p.D174N|NM_007237,p.D174N|ENST00000417495,p.D174N|ENST00000350136,p.D154N|ENST00000343805,p.D174N|NM_001278452,p.D174N|uc002vqm.3,p.D174N|uc002vqk.2,p.D174N	retained_intron, protein_coding, processed_transcript	uc010fxl.3	nonsynonymous SNV	exon5	c.G520A	p.D174N	KQENSNACHEMDDIAVPQEALSSSP	KQENSNACHEMDNIAVPQEALSSSP	6.0	3.0	unscreened	-	3998_2:231108475-231108475 G>A_KQENSNACHEMDNIAVPQEALSSSP
12:129178423-129178423 G>A	0.0	3998	MELANOMA	-	-	-	-	TMEM132C	ENST00000315208,p.G116E|NM_001136103,p.G500E|ENST00000435159,p.G500E|uc021rgn.1,p.G500E	protein_coding	uc021rgn.1	nonsynonymous SNV	exon6	c.G1499A	p.G500E	CDYIFVNGKEIKGKMDAVVNFTYQY	CDYIFVNGKEIKEKMDAVVNFTYQY	1.0	4.0	unscreened	-	3998_12:129178423-129178423 G>A_CDYIFVNGKEIKEKMDAVVNFTYQY
4:75938285-75938285 G>A	0.0	3998	MELANOMA	-	-	-	-	PARM1	uc003hih.2,p.E232K|NM_015393,p.E232K|ENST00000307428,p.E232K	protein_coding	uc003hih.2	nonsynonymous SNV	exon2	c.G694A	p.E232K	TPPTTVSGKVMCELIDMETTTTFPR	TPPTTVSGKVMCKLIDMETTTTFPR	2.0	8.0	unscreened	-	3998_4:75938285-75938285 G>A_TPPTTVSGKVMCKLIDMETTTTFPR
13:61986530-61986530 C>T	0.0	3998	MELANOMA	-	-	-	-	PCDH20	uc010thj.2,p.G568S|ENST00000409204,p.G568S|NM_022843,p.G568S|uc001vid.4,p.G568S|ENST00000409186,p.G568S	protein_coding, processed_transcript	uc010thj.2	nonsynonymous SNV	exon5	c.G1702A	p.G568S	KLYATDADSEERGQVSYFLGPDAPS	KLYATDADSEERSQVSYFLGPDAPS	1.0	2.0	unscreened	-	3998_13:61986530-61986530 C>T_KLYATDADSEERSQVSYFLGPDAPS
16:9916155-9916155 C>T	0.0	3998	MELANOMA	-	-	-	1	GRIN2A	uc002czo.4,p.G712R|ENST00000562109,p.G712R|ENST00000396573,p.G712R|uc010uym.2,p.G712R|ENST00000535259,p.G555R|ENST00000330684,p.G712R|NM_001134408,p.G712R|NM_001134407,p.G712R|uc010uyn.2,p.G555R|ENST00000396575,p.G712R|NM_000833,p.G712R|uc002czr.4,p.G712R|ENST00000404927,p.G712R	retained_intron, protein_coding, processed_transcript	uc010uyn.2	nonsynonymous SNV	exon9	c.G1663A	p.G555R	YMHQYMTKFNQKGVEDALVSLKTGK	YMHQYMTKFNQKRVEDALVSLKTGK	2.0	1.0	unscreened	-	3998_16:9916155-9916155 C>T_YMHQYMTKFNQKRVEDALVSLKTGK
11:124056814-124056814 G>A	0.0	3998	MELANOMA	-	-	-	-	VWA5A,OR8G2	uc001pzv.2,p.G280R|ENST00000318666,p.G280R	protein_coding	uc001pzv.2	nonsynonymous SNV	exon1	c.G838A	p.G280R	LGTVVQILMNLVGPMLNPLIYTLRN	LGTVVQILMNLVRPMLNPLIYTLRN	2.0	7.0	unscreened	-	3998_11:124056814-124056814 G>A_LGTVVQILMNLVRPMLNPLIYTLRN
11:58207554-58207554 G>A	0.0	3998	MELANOMA	-	-	-	-	OR5B12	uc010rkh.2,p.P24L|ENST00000302572,p.P24L|NM_001004733,p.P24L	protein_coding	uc010rkh.2	nonsynonymous SNV	exon1	c.C71T	p.P24L	LVGLTDDPELQIPLFIVFLFIYLIT	LVGLTDDPELQILLFIVFLFIYLIT	1.0	5.0	unscreened	-	3998_11:58207554-58207554 G>A_LVGLTDDPELQILLFIVFLFIYLIT
15:90347551-90347551 G>A	0.0	3998	MELANOMA	-	-	ID=COSM141459;OCCURENCE=1(upper_aerodigestive_tract)	-	ANPEP	uc002bop.4,p.P371L|NM_001150,p.P371L|ENST00000300060,p.P371L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bop.4	nonsynonymous SNV	exon6	c.C1112T	p.P371L	LVTYRENSLLFDPLSSSSSNKERVV	LVTYRENSLLFDLLSSSSSNKERVV	7.0	8.0	unscreened	-	3998_15:90347551-90347551 G>A_LVTYRENSLLFDLLSSSSSNKERVV
11:121461713-121461713 C>T	0.0	3998	MELANOMA	-	-	-	-	SORL1	ENST00000532694,p.S252L|ENST00000534286,p.S316L|ENST00000260197,p.S1406L|NM_003105,p.S1406L|ENST00000525532,p.S350L|uc010rzp.1,p.S252L|uc001pxx.3,p.S1406L	retained_intron, protein_coding, processed_transcript	uc010rzp.1	nonsynonymous SNV	exon8	c.C755T	p.S252L	CGDWSDEKDCGDSHILPFSTPGPST	CGDWSDEKDCGDLHILPFSTPGPST	7.0	5.0	unscreened	-	3998_11:121461713-121461713 C>T_CGDWSDEKDCGDLHILPFSTPGPST
19:33698435-33698435 C>T	1.0	3998	MELANOMA	-	-	-	-	LRP3	uc010edh.3,p.S756F|NM_002333,p.S756F|ENST00000253193,p.S756F|uc002nuk.4,p.S630F	retained_intron, protein_coding	uc010edh.3	nonsynonymous SNV	exon7	c.C2267T	p.S756F	PLGVCRNPPPPCSPMLEASDDEALL	PLGVCRNPPPPCFPMLEASDDEALL	7.0	7.0	-	-	3998_19:33698435-33698435 C>T_PLGVCRNPPPPCFPMLEASDDEALL
9:107361169-107361169 G>A	0.0	3998	MELANOMA	-	-	-	-	OR13C5	uc011lvp.2,p.H176Y|ENST00000374779,p.H176Y|NM_001004482,p.H176Y	protein_coding	uc011lvp.2	nonsynonymous SNV	exon1	c.C526T	p.H176Y	VQLPFCRNNIINHFTCEILAVMKLA	VQLPFCRNNIINYFTCEILAVMKLA	1.0	8.0	-	-	3998_9:107361169-107361169 G>A_VQLPFCRNNIINYFTCEILAVMKLA
17:34192286-34192286 C>T	0.0	3998	MELANOMA	-	-	-	-	HEATR9	uc010wcm.1,p.D51N|ENST00000587626,p.D85N|ENST00000589015,p.D51N|NM_152781,p.D85N|uc002hke.1,p.D85N|ENST00000311880,p.D85N|ENST00000587573,p.D51N|ENST00000592980,p.D85N|ENST00000585840,p.D85N|uc010wcl.1,p.D85N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wcm.1	nonsynonymous SNV	exon4	c.G151A	p.D51N	YFKKPEIYTHWHDLYDQREEREAEK	YFKKPEIYTHWHNLYDQREEREAEK	2.0	6.0	unscreened	-	3998_17:34192286-34192286 C>T_YFKKPEIYTHWHNLYDQREEREAEK
7:93072922-93072922 C>T	0.0	3998	MELANOMA	-	-	-	-	CALCR	ENST00000415529,p.G266S|ENST00000423724,p.G282S	protein_coding, nonsense_mediated_decay	ENST00000423724	nonsynonymous SNV	exon8	c.G844A	p.G282S	TEKQRLRWYYLLGWAPAFHRD	TEKQRLRWYYLLSWAPAFHRD	1.0	2.0	unscreened	-	3998_7:93072922-93072922 C>T_TEKQRLRWYYLLSWAPAFHRD
X:63411110-63411110 G>A	0.0	3998	MELANOMA	-	-	-	1	AMER1	ENST00000403336,p.P686L|ENST00000374869,p.P686L|ENST00000330258,p.P686L|uc022byb.1,p.P686L|uc004dvo.3,p.P686L|NM_152424,p.P686L	protein_coding	uc022byb.1	nonsynonymous SNV	exon1	c.C2057T	p.P686L	SQISHRGITSAFPTTASSEPDWRDF	SQISHRGITSAFLTTASSEPDWRDF	4.0	10.0	-	-	3998_X:63411110-63411110 G>A_SQISHRGITSAFLTTASSEPDWRDF
16:23718360-23718360 G>A	0.0	3998	MELANOMA	-	-	-	-	ERN2	ENST00000457008,p.P116L|ENST00000256797,p.P164L|uc010bxp.3,p.P164L|NM_033266,p.P164L|uc002dma.4,p.P164L	retained_intron, protein_coding, nonsense_mediated_decay	uc010bxp.3	nonsynonymous SNV	exon5	c.C491T	p.P164L	LPFTIPELVHASPCRSSDGVFYTGR	LPFTIPELVHASLCRSSDGVFYTGR	1.0	4.0	unscreened	-	3998_16:23718360-23718360 G>A_LPFTIPELVHASLCRSSDGVFYTGR
3:182947524-182947524 G>A	0.0	3998	MELANOMA	-	-	-	-	MCF2L2	uc003flj.1,p.P659S|ENST00000473233,p.P659S|uc003fli.1,p.P659S|NM_015078,p.P659S|ENST00000447025,p.P659S|ENST00000328913,p.P659S	retained_intron, protein_coding, processed_transcript	uc003flj.1	nonsynonymous SNV	exon17	c.C1975T	p.P659S	TPMDFIWLKHLIPDVLQNNKDFLFG	TPMDFIWLKHLISDVLQNNKDFLFG	6.0	3.0	unscreened	-	3998_3:182947524-182947524 G>A_TPMDFIWLKHLISDVLQNNKDFLFG
1:57169911-57169911 G>A	0.0	3998	MELANOMA	-	-	-	-	PRKAA2	uc031pmr.1,p.M239I|uc001cyk.4,p.M352I|uc031pms.1,p.M239I|ENST00000371244,p.M352I|NM_006252,p.M352I	protein_coding	uc031pms.1	nonsynonymous SNV	exon5	c.G717A	p.M239I	FYLASSPPSGSFMDDSAMHIPPGLK	FYLASSPPSGSFIDDSAMHIPPGLK	1.0	8.0	-	-	3998_1:57169911-57169911 G>A_FYLASSPPSGSFIDDSAMHIPPGLK
10:46999850-46999850 C>T	0.0	3998	MELANOMA	-	-	-	-	GPRIN2	uc001jec.3,p.P324S|ENST00000374317,p.P324S|uc021ppt.1,p.P324S|NM_014696,p.P324S|ENST00000374314,p.P324S	protein_coding	uc021ppt.1	nonsynonymous SNV	exon1	c.C970T	p.P324S	DVWTMTSANDLAPAEASPLSAQDAG	DVWTMTSANDLASAEASPLSAQDAG	1.0	1.0	unscreened	-	3998_10:46999850-46999850 C>T_DVWTMTSANDLASAEASPLSAQDAG
X:109931893-109931893 C>T	0.0	3998	MELANOMA	-	-	-	-	CHRDL1	uc010nps.3,p.R305Q|NM_001143981,p.R306Q|ENST00000372042,p.R306Q|NM_145234,p.R305Q|ENST00000394797,p.R305Q|ENST00000372045,p.R299Q|ENST00000444321,p.R305Q|ENST00000434224,p.R226Q|uc004eow.3,p.R305Q|uc011mss.2,p.R226Q|uc004eou.4,p.R306Q|uc004eov.3,p.R300Q|NM_001143983,p.R226Q|ENST00000482160,p.R226Q|ENST00000218054,p.R305Q|NM_001143982,p.R305Q	protein_coding	uc011mss.2	nonsynonymous SNV	exon7	c.G677A	p.R226Q	TKQECKKIHCPNRYPCKYPQKIDGK	TKQECKKIHCPNQYPCKYPQKIDGK	1.0	10.0	-	-	3998_X:109931893-109931893 C>T_TKQECKKIHCPNQYPCKYPQKIDGK
6:44254204-44254204 C>T	0.0	3998	MELANOMA	-	-	-	-	TCTE1	NM_182539,p.D115N|uc003oxi.2,p.D115N|ENST00000371505,p.D115N	protein_coding	uc003oxi.2	nonsynonymous SNV	exon3	c.G343A	p.D115N	EHQQKVLNHLSPDLPLAVTANLIDS	EHQQKVLNHLSPNLPLAVTANLIDS	1.0	10.0	-	-	3998_6:44254204-44254204 C>T_EHQQKVLNHLSPNLPLAVTANLIDS
X:35993912-35993912 G>A	0.0	3998	MELANOMA	-	-	-	-	CXorf22	uc004ddj.3,p.M865I|NM_152632,p.M865I|ENST00000297866,p.M865I	protein_coding, nonsense_mediated_decay	uc004ddj.3	nonsynonymous SNV	exon15	c.G2595A	p.M865I	SNELVLRPRGFFMKTCFRGTVRLYN	SNELVLRPRGFFIKTCFRGTVRLYN	1.0	10.0	-	-	3998_X:35993912-35993912 G>A_SNELVLRPRGFFIKTCFRGTVRLYN
17:15848848-15848848 C>G	0.0	3998	MELANOMA	-	-	-	-	ADORA2B	uc002gpd.1,p.L96V|ENST00000304222,p.L96V|NM_000676,p.L96V	retained_intron, protein_coding	uc002gpd.1	nonsynonymous SNV	exon1	c.C286G	p.L96V	FVLVLTQSSIFSLLAVAVDRYLAIC	FVLVLTQSSIFSVLAVAVDRYLAIC	1.0	7.0	unscreened	-	3998_17:15848848-15848848 C>G_FVLVLTQSSIFSVLAVAVDRYLAIC
7:93072922-93072922 C>T	0.0	3998	MELANOMA	-	-	-	-	CALCR	uc003umw.2,p.G266S|ENST00000360249,p.G282S|ENST00000394441,p.G266S|ENST00000359558,p.G300S|NM_001164737,p.G300S|ENST00000421592,p.G282S|uc003umv.2,p.G300S|ENST00000426151,p.G266S|uc022ahi.1,p.G266S|NM_001164738,p.G266S|NM_001742,p.G266S	protein_coding, nonsense_mediated_decay	uc022ahi.1	nonsynonymous SNV	exon8	c.G796A	p.G266S	TEKQRLRWYYLLGWGFPLVPTTIHA	TEKQRLRWYYLLSWGFPLVPTTIHA	1.0	2.0	unscreened	-	3998_7:93072922-93072922 C>T_TEKQRLRWYYLLSWGFPLVPTTIHA
17:33875518-33875518 G>A	0.0	3998	MELANOMA	0.0005	-	-	-	SLFN14	uc010ctu.1,p.R827C|NM_001129820,p.R827C|ENST00000415846,p.R827C	protein_coding	uc010ctu.1	nonsynonymous SNV	exon4	c.C2479T	p.R827C	IAILCRRGEDRGRYRLALLKAMELI	IAILCRRGEDRGCYRLALLKAMELI	1.0	8.0	-	-	3998_17:33875518-33875518 G>A_IAILCRRGEDRGCYRLALLKAMELI
17:73559865-73559865 C>T	0.0	3998	MELANOMA	-	-	-	-	LLGL2	ENST00000577200,p.L287F|NM_001031803,p.L287F|NM_004524,p.L287F|uc002joh.3,p.L287F|ENST00000578363,p.L287F|uc010dgg.2,p.L287F|ENST00000167462,p.L287F|uc002jog.1,p.L287F|uc010dgf.1,p.L287F|uc002joi.3,p.L287F|ENST00000375227,p.L287F|ENST00000392550,p.L287F|NM_001015002,p.L287F|uc002joj.3,p.L276F	retained_intron, protein_coding, nonsense_mediated_decay	uc010dgg.2	nonsynonymous SNV	exon9	c.C859T	p.L287F	YGPFPCKAITRILWLTTRQGLPFTI	YGPFPCKAITRIFWLTTRQGLPFTI	4.0	1.0	unscreened	-	3998_17:73559865-73559865 C>T_YGPFPCKAITRIFWLTTRQGLPFTI
1:215848705-215848705 C>T	0.0	3998	MELANOMA	-	-	-	-	USH2A	ENST00000307340,p.G4183E|NM_206933,p.G4183E|uc001hku.1,p.G4183E|ENST00000366943,p.G4183E	retained_intron, protein_coding	uc001hku.1	nonsynonymous SNV	exon63	c.G12548A	p.G4183E	VELSWSEPVNPNGKIIRYEVIRRCF	VELSWSEPVNPNEKIIRYEVIRRCF	1.0	8.0	unscreened	-	3998_1:215848705-215848705 C>T_VELSWSEPVNPNEKIIRYEVIRRCF
19:55493003-55493003 G>A	0.0	3998	MELANOMA	-	-	-	-	NLRP2	ENST00000585500,p.G70E|ENST00000448584,p.G139E|ENST00000543010,p.G139E|ENST00000433772,p.G139E|NM_001174081,p.G139E|uc021vbq.1,p.G139E|ENST00000397169,p.G71E|ENST00000427260,p.G116E|uc002qij.3,p.G139E|uc010yfp.2,p.G116E|NM_017852,p.G139E|NM_001174083,p.G116E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vbq.1	nonsynonymous SNV	exon5	c.G416A	p.G139E	FKTEAQAFTETKGNVICLGKEVFKG	FKTEAQAFTETKENVICLGKEVFKG	3.0	9.0	-	-	3998_19:55493003-55493003 G>A_FKTEAQAFTETKENVICLGKEVFKG
19:55493003-55493003 G>A	0.0	3998	MELANOMA	-	-	-	-	NLRP2	ENST00000538819,p.G115E|ENST00000391721,p.G115E|uc010esn.3,p.G115E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010esn.3	nonsynonymous SNV	exon4	c.G344A	p.G115E	RKPLSLAFTETKGNVICLGKEVFKG	RKPLSLAFTETKENVICLGKEVFKG	3.0	9.0	-	-	3998_19:55493003-55493003 G>A_RKPLSLAFTETKENVICLGKEVFKG
16:77398264-77398264 G>A	0.0	3998	MELANOMA	-	-	-	-	ADAMTS18	ENST00000449265,p.S266F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000449265	nonsynonymous SNV	exon5	c.C797T	p.S266F	CGRRKKCICSQASHRGHLSKV	CGRRKKCICSQAFHRGHLSKV	1.0	9.0	-	-	3998_16:77398264-77398264 G>A_CGRRKKCICSQAFHRGHLSKV
19:49622251-49622251 C>T	0.0	3998	MELANOMA	-	-	-	-	C19orf73	NM_018111,p.G10E|ENST00000408991,p.G10E|uc002pmq.4,p.G10E	protein_coding	uc002pmq.4	nonsynonymous SNV	exon1	c.G29A	p.G10E	MRLKVGFQGGGCFRKDALCLEG	MRLKVGFQGEGCFRKDALCLEG	1.0	10.0	-	-	3998_19:49622251-49622251 C>T_MRLKVGFQGEGCFRKDALCLEG
X:114425733-114425733 G>A	0.0	3998	MELANOMA	-	-	ID=COSM1113485;OCCURENCE=1(endometrium)	-	RBMXL3	uc011mte.1,p.D577N|ENST00000424776,p.D577N|NM_001145346,p.D577N	protein_coding	uc011mte.1	nonsynonymous SNV	exon1	c.G1729A	p.D577N	GGCSADAYSGGHDSSSQSNRYGGGG	GGCSADAYSGGHNSSSQSNRYGGGG	1.0	10.0	-	-	3998_X:114425733-114425733 G>A_GGCSADAYSGGHNSSSQSNRYGGGG
8:24193199-24193199 C>T	0.0	3998	MELANOMA	-	-	-	-	ADAM28	ENST00000437154,p.H538Y|NM_021777,p.H538Y|ENST00000540823,p.H305Y|uc003xdx.3,p.H538Y|uc011kzz.2,p.H305Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kzz.2	nonsynonymous SNV	exon13	c.C913T	p.H305Y	TNPFPCACAKENHFR	TNPFPCACAKENYFR	5.0	8.0	unscreened	-	3998_8:24193199-24193199 C>T_TNPFPCACAKENYFR
6:43251600-43251600 C>T	0.0	3998	MELANOMA	-	-	-	-	TTBK1	uc021yzs.1,p.S329F|ENST00000259750,p.S1041F|NM_032538,p.S1041F|uc003ouq.1,p.S1041F	protein_coding	uc021yzs.1	nonsynonymous SNV	exon1	c.C986T	p.S329F	PLEPSPEKVATISPRRHAMPGSRPR	PLEPSPEKVATIFPRRHAMPGSRPR	1.0	2.0	unscreened	-	3998_6:43251600-43251600 C>T_PLEPSPEKVATIFPRRHAMPGSRPR
2:219000437-219000437 C>T	0.0	3998	MELANOMA	-	-	-	-	CXCR2	uc002vha.2,p.L305F|NM_001557,p.L305F|uc002vgz.2,p.L305F|NM_001168298,p.L305F|uc021vwp.1,p.L305F|ENST00000318507,p.L305F|uc002vhb.2,p.L305F	protein_coding	uc021vwp.1	nonsynonymous SNV	exon1	c.C913T	p.L305F	DRALDATEILGILHSCLNPLIYAFI	DRALDATEILGIFHSCLNPLIYAFI	1.0	6.0	unscreened	-	3998_2:219000437-219000437 C>T_DRALDATEILGIFHSCLNPLIYAFI
5:19483585-19483585 C>T	0.0	3998	MELANOMA	-	-	ID=COSM1695474,COSM1695475;OCCURENCE=2(skin)	-	CDH18	ENST00000507958,p.M569I|uc003jgc.3,p.M569I|ENST00000274170,p.M569I|ENST00000382275,p.M569I|NM_001291956,p.M569I|NM_004934,p.M569I|uc003jgd.3,p.M569I	protein_coding, processed_transcript	uc003jgd.3	nonsynonymous SNV	exon12	c.G1707A	p.M569I	SRTVQDVYYLPIMISDGGIPSLSSS	SRTVQDVYYLPIIISDGGIPSLSSS	1.0	9.0	-	-	3998_5:19483585-19483585 C>T_SRTVQDVYYLPIIISDGGIPSLSSS
13:33635807-33635807 G>A	0.0	3998	MELANOMA	-	-	-	-	KL	ENST00000380099,p.G864E|NM_004795,p.G864E|uc001uus.3,p.G864E	protein_coding, processed_transcript	uc001uus.3	nonsynonymous SNV	exon4	c.G2591A	p.G864E	LRKVLNWLKFKYGDLPMYIISNGID	LRKVLNWLKFKYEDLPMYIISNGID	1.0	7.0	unscreened	-	3998_13:33635807-33635807 G>A_LRKVLNWLKFKYEDLPMYIISNGID
20:45131334-45131334 C>T	0.0	3998	MELANOMA	-	-	-	-	ZNF334	uc002xsc.4,p.G215E|uc002xsa.4,p.G238E|NM_001270497,p.G214E|uc002xsb.4,p.G177E|ENST00000457685,p.G177E|uc002xsd.4,p.G177E|ENST00000347606,p.G215E|ENST00000593880,p.G238E|uc031rtw.1,p.G177E|NM_018102,p.G215E|uc010ghl.4,p.G214E	protein_coding	uc031rtw.1	nonsynonymous SNV	exon5	c.G530A	p.G177E	QILKQPFDYNKCGKTFFKRAILITQ	QILKQPFDYNKCEKTFFKRAILITQ	5.0	1.0	unscreened	-	3998_20:45131334-45131334 C>T_QILKQPFDYNKCEKTFFKRAILITQ
1:43308698-43308698 C>T	0.0	3998	MELANOMA	-	-	-	-	ERMAP	ENST00000372517,p.P408L|NM_018538,p.P408L|NM_001017922,p.P408L|uc001cic.1,p.P408L|ENST00000328249,p.P318L|uc001cif.1,p.P318L|ENST00000372514,p.P408L|uc001cie.1,p.P408L	protein_coding, processed_transcript	uc001cif.1	nonsynonymous SNV	exon9	c.C953T	p.P318L	EPCLHDGGKNTAPLVICSELHKSEE	EPCLHDGGKNTALLVICSELHKSEE	6.0	5.0	unscreened	-	3998_1:43308698-43308698 C>T_EPCLHDGGKNTALLVICSELHKSEE
19:12155719-12155719 G>A	0.0	3998	MELANOMA	-	-	-	-	ZNF878	ENST00000602107,p.S213F|uc021upl.1,p.S166F|NM_001080404,p.S166F|ENST00000547628,p.S166F	protein_coding	uc021upl.1	nonsynonymous SNV	exon4	c.C497T	p.S166F	FPSSVRRHERIHSAKKPYECKQCGK	FPSSVRRHERIHFAKKPYECKQCGK	1.0	9.0	unscreened	-	3998_19:12155719-12155719 G>A_FPSSVRRHERIHFAKKPYECKQCGK
19:1979949-1979949 C>T	1.0	3998	MELANOMA	-	-	-	-	CSNK1G2	NM_001319,p.P376S|ENST00000255641,p.P376S|uc010dsu.3,p.P328S|uc002lul.4,p.P376S	retained_intron, protein_coding, processed_transcript	uc010dsu.3	nonsynonymous SNV	exon11	c.C982T	p.P328S	LNSTNGELNADDPTAGHSNAPITAP	LNSTNGELNADDSTAGHSNAPITAP	9.0	5.0	unscreened	-	3998_19:1979949-1979949 C>T_LNSTNGELNADDSTAGHSNAPITAP
8:113529329-113529329 C>T	0.0	3998	MELANOMA	-	-	-	2	CSMD3	uc003yns.3,p.E836K|ENST00000352409,p.E1564K|uc011lhx.2,p.E1460K|uc003ynt.3,p.E1524K|ENST00000297405,p.E1564K|ENST00000339701,p.E904K|uc003ynu.3,p.E1564K|NM_052900,p.E1460K|ENST00000343508,p.E1524K|NM_198123,p.E1564K|ENST00000455883,p.E1460K|NM_198124,p.E1524K	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon27	c.G4378A	p.E1460K	FQCDPGYELQGEERITCIQVENRYF	FQCDPGYELQGEKRITCIQVENRYF	1.0	10.0	-	-	3998_8:113529329-113529329 C>T_FQCDPGYELQGEKRITCIQVENRYF
5:24511615-24511615 G>A	0.0	3998	MELANOMA	-	-	-	2	CDH10	ENST00000264463,p.H275Y|uc003jgr.2,p.H275Y|NM_006727,p.H275Y|ENST00000510477,p.H275Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jgr.2	nonsynonymous SNV	exon6	c.C823T	p.H275Y	NDNPPRFPQNTIHLRVLESSPVGTA	NDNPPRFPQNTIYLRVLESSPVGTA	1.0	1.0	unscreened	-	3998_5:24511615-24511615 G>A_NDNPPRFPQNTIYLRVLESSPVGTA
9:131020332-131020332 G>A	1.0	3998	MELANOMA	-	-	-	-	GOLGA2	uc011maw.2,p.A785V|NM_004486,p.A785V|uc004buh.3,p.A258V|uc010mxw.3,p.A108V|ENST00000421699,p.A785V	retained_intron, protein_coding	uc011maw.2	nonsynonymous SNV	exon22	c.C2354T	p.A785V	ASAQKEPEAAAPAPGTGGDSVCGET	ASAQKEPEAAAPVPGTGGDSVCGET	10.0	9.0	-	-	3998_9:131020332-131020332 G>A_ASAQKEPEAAAPVPGTGGDSVCGET
15:81592753-81592753 A>T	0.0	3998	MELANOMA	-	-	-	-	IL16	NM_004513,p.N328I|ENST00000394652,p.N328I|uc010unq.1,p.N328I|NM_001172128,p.N1029I|uc021ssi.1,p.N328I|NM_172217,p.N1029I|uc002bgg.3,p.N1029I|ENST00000302987,p.N1029I|uc010blq.1,p.N983I|uc002bgj.3,p.N523I|uc010unp.2,p.N1071I|ENST00000394660,p.N1029I|uc002bgl.1,p.N328I|uc021ssh.1,p.N1029I|ENST00000559388,p.N983I|uc002bgi.1,p.N419I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ssi.1	nonsynonymous SNV	exon2	c.A983T	p.N328I	IPKEGASPTSSSNEDSAANGSAETS	IPKEGASPTSSSIEDSAANGSAETS	7.0	7.0	unscreened	-	3998_15:81592753-81592753 A>T_IPKEGASPTSSSIEDSAANGSAETS
11:45241212-45241212 C>T	0.0	3998	MELANOMA	-	-	-	-	PRDM11	NM_001256696,p.R216W|ENST00000424263,p.R216W|uc031pzz.1,p.R247W|ENST00000263765,p.R250W|uc031qaa.1,p.R216W|ENST00000530656,p.R250W|NM_001256695,p.R216W|uc031qab.1,p.R216W	protein_coding, processed_transcript	uc031qab.1	nonsynonymous SNV	exon6	c.C646T	p.R216W	SERIYFRACRDIRPGEWLRVWYSED	SERIYFRACRDIWPGEWLRVWYSED	5.0	8.0	-	-	3998_11:45241212-45241212 C>T_SERIYFRACRDIWPGEWLRVWYSED
20:45131335-45131335 C>T	0.0	3998	MELANOMA	-	-	-	-	ZNF334	uc002xsa.4,p.G238R|ENST00000457685,p.G177R|uc002xsb.4,p.G177R|ENST00000593880,p.G238R|uc002xsc.4,p.G215R|NM_018102,p.G215R|uc002xsd.4,p.G177R|uc010ghl.4,p.G214R|uc031rtw.1,p.G177R|ENST00000347606,p.G215R|NM_001270497,p.G214R	protein_coding	uc031rtw.1	nonsynonymous SNV	exon5	c.G529A	p.G177R	QILKQPFDYNKCGKTFFKRAILITQ	QILKQPFDYNKCRKTFFKRAILITQ	5.0	1.0	unscreened	-	3998_20:45131335-45131335 C>T_QILKQPFDYNKCRKTFFKRAILITQ
5:23526996-23526996 G>A	0.0	3998	MELANOMA	-	-	-	-	PRDM9	ENST00000296682,p.R600K|uc003jgo.3,p.R600K|NM_020227,p.R600K	protein_coding	uc003jgo.3	nonsynonymous SNV	exon11	c.G1799A	p.R600K	GFSWQSVLLTHQRTHTGEKPYVCRE	GFSWQSVLLTHQKTHTGEKPYVCRE	1.0	8.0	unscreened	-	3998_5:23526996-23526996 G>A_GFSWQSVLLTHQKTHTGEKPYVCRE
5:140773290-140773290 G>A	0.0	3998	MELANOMA	-	-	-	-	PCDHGA8	uc003lkb.4,p.A304T|uc003lkd.2,p.A304T|NM_014004,p.A304T|ENST00000398604,p.A304T|NM_032088,p.A304T	protein_coding	uc003lkd.2	nonsynonymous SNV	exon1	c.G910A	p.A304T	FQLNENTGEISIAKSLDYEECSFYE	FQLNENTGEISITKSLDYEECSFYE	3.0	3.0	unscreened	-	3998_5:140773290-140773290 G>A_FQLNENTGEISITKSLDYEECSFYE
19:10071203-10071203 C>T	0.0	3998	MELANOMA	-	-	ID=COSM260236;OCCURENCE=1(endometrium),3(large_intestine)	-	COL5A3	NM_015719,p.E1708K|uc002mmq.1,p.E1708K|ENST00000264828,p.E1708K	retained_intron, protein_coding	uc002mmq.1	nonsynonymous SNV	exon67	c.G5122A	p.E1708K	CRLRKGQTKTLFEFSSSRAGFLPLW	CRLRKGQTKTLFKFSSSRAGFLPLW	3.0	2.0	unscreened	-	3998_19:10071203-10071203 C>T_CRLRKGQTKTLFKFSSSRAGFLPLW
18:77477934-77477934 G>A	0.0	3998	MELANOMA	-	-	-	-	CTDP1	NM_004715,p.G779R|ENST00000299543,p.G779R|ENST00000591598,p.G711R|ENST00000075430,p.G779R|NM_048368,p.G779R|uc002lnh.2,p.G779R|NM_001202504,p.G660R|uc021ult.1,p.G660R|uc010drd.2,p.G779R|uc002lni.2,p.G779R	retained_intron, protein_coding, processed_transcript	uc021ult.1	nonsynonymous SNV	exon10	c.G1978A	p.G660R	PGPEVRIYDSNTGKLIRTGARGPPA	PGPEVRIYDSNTRKLIRTGARGPPA	7.0	9.0	-	-	3998_18:77477934-77477934 G>A_PGPEVRIYDSNTRKLIRTGARGPPA
15:92647526-92647526 C>T	0.0	3998	MELANOMA	-	-	-	-	SLCO3A1	ENST00000424469,p.P255S|uc002bqy.2,p.P255S|uc002bqx.2,p.P255S|ENST00000318445,p.P255S|uc002bqz.1,p.P197S|NM_013272,p.P255S|NM_001145044,p.P255S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bqz.1	nonsynonymous SNV	exon5	c.C589T	p.P197S	AVFIDTSNLDITPDDPRWIGAWWGG	AVFIDTSNLDITSDDPRWIGAWWGG	5.0	3.0	unscreened	-	3998_15:92647526-92647526 C>T_AVFIDTSNLDITSDDPRWIGAWWGG
4:126371710-126371710 T>A	0.0	3998	MELANOMA	-	-	-	1	FAT4	NM_024582,p.V3180E|NM_001291303,p.V3182E|ENST00000394329,p.V3180E|uc003ifj.4,p.V3180E|uc011cgp.2,p.V1478E|ENST00000335110,p.V1478E|uc003ifi.1,p.V658E|NM_001291285,p.V3182E	retained_intron, protein_coding	uc011cgp.2	nonsynonymous SNV	exon9	c.T4433A	p.V1478E	DGGWVARTGYCSVTVNVIDVNDNSP	DGGWVARTGYCSETVNVIDVNDNSP	5.0	6.0	unscreened	-	3998_4:126371710-126371710 T>A_DGGWVARTGYCSETVNVIDVNDNSP
16:3350226-3350226 C>T	1.0	3998	MELANOMA	-	-	ID=COSM3377889;OCCURENCE=1(pancreas)	-	TIGD7	ENST00000268674,p.R130Q|ENST00000396862,p.R130Q|NM_033208,p.R130Q|uc021tcc.1,p.R130Q|uc002cus.3,p.R130Q	protein_coding, processed_transcript	uc021tcc.1	nonsynonymous SNV	exon1	c.G389A	p.R130Q	DFKASTGWLFRFRNRHAIGNRKGCG	DFKASTGWLFRFQNRHAIGNRKGCG	5.0	7.0	-	-	3998_16:3350226-3350226 C>T_DFKASTGWLFRFQNRHAIGNRKGCG
13:47409175-47409175 G>A	0.0	3998	MELANOMA	-	-	-	-	HTR2A	ENST00000542664,p.P405S|NM_000621,p.P405S|uc001vbr.4,p.P321S|uc010acr.4,p.P405S|NM_001165947,p.P321S|ENST00000543956,p.P321S|ENST00000378688,p.P405S	protein_coding	uc010acr.4	nonsynonymous SNV	exon4	c.C1213T	p.P405S	RYIQCQYKENKKPLQLILVNTIPAL	RYIQCQYKENKKSLQLILVNTIPAL	1.0	9.0	-	-	3998_13:47409175-47409175 G>A_RYIQCQYKENKKSLQLILVNTIPAL
11:124056804-124056804 G>A	0.0	3998	MELANOMA	-	-	-	-	VWA5A,OR8G2	uc001pzv.2,p.M276I|ENST00000318666,p.M276I	protein_coding	uc001pzv.2	nonsynonymous SNV	exon1	c.G828A	p.M276I	PNPMLGTVVQILMNLVGPMLNPLIY	PNPMLGTVVQILINLVGPMLNPLIY	2.0	4.0	unscreened	-	3998_11:124056804-124056804 G>A_PNPMLGTVVQILINLVGPMLNPLIY
17:43531477-43531477 G>A	1.0	3998	MELANOMA	-	-	-	-	PLEKHM1	uc002ijc.3,p.R35C|ENST00000421073,p.R492C|ENST00000430334,p.R581C|uc002ija.3,p.R581C|uc010wjm.2,p.R553C|NM_014798,p.R581C|uc010wjn.1,p.R530C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wjn.1	nonsynonymous SNV	exon6	c.C1588T	p.R530C	EEHTCVENCSLLRCESVGPAHSDGR	EEHTCVENCSLLCCESVGPAHSDGR	8.0	1.0	-	-	3998_17:43531477-43531477 G>A_EEHTCVENCSLLCCESVGPAHSDGR
16:57983267-57983267 C>T	0.0	3998	MELANOMA	-	-	-	-	CNGB1	NM_001297,p.E371K|ENST00000564448,p.E365K|uc002emt.2,p.E371K|uc010cdh.2,p.E365K|NM_001286130,p.E365K|ENST00000251102,p.E371K	retained_intron, protein_coding, processed_transcript	uc010cdh.2	nonsynonymous SNV	exon14	c.G1093A	p.E365K	EEEEEEEEEEEEEVTEVLLDSCVVS	EEEEEEEEEEEEKVTEVLLDSCVVS	1.0	6.0	unscreened	-	3998_16:57983267-57983267 C>T_EEEEEEEEEEEEKVTEVLLDSCVVS
1:248436332-248436332 G>A	0.0	3998	MELANOMA	-	-	-	-	OR2T33	ENST00000318021,p.S262F|uc010pzi.2,p.S262F|NM_001004695,p.S262F	protein_coding	uc010pzi.2	nonsynonymous SNV	exon1	c.C785T	p.S262F	YGAAIFTYMRPKSHRSTNHDKVVSA	YGAAIFTYMRPKFHRSTNHDKVVSA	1.0	10.0	unscreened	-	3998_1:248436332-248436332 G>A_YGAAIFTYMRPKFHRSTNHDKVVSA
22:26164899-26164899 G>A	0.0	3998	MELANOMA	-	-	-	-	MYO18B	NM_032608,p.G339E|ENST00000335473,p.G339E|uc010guz.1,p.G220E|ENST00000539302,p.G339E|ENST00000536101,p.G339E|uc003aca.1,p.G220E|uc010guy.1,p.G220E|ENST00000407587,p.G339E|uc003abz.1,p.G339E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010guz.1	nonsynonymous SNV	exon2	c.G659A	p.G220E	KWDGPQNKKDKEGVLLSKAEKTGEP	KWDGPQNKKDKEEVLLSKAEKTGEP	2.0	1.0	unscreened	-	3998_22:26164899-26164899 G>A_KWDGPQNKKDKEEVLLSKAEKTGEP
17:74011655-74011655 C>T	0.0	3998	MELANOMA	-	-	-	-	EVPL	uc010wss.1,p.E611K|ENST00000301607,p.E589K|uc010wst.1,p.E59K|ENST00000586740,p.E611K|NM_001988,p.E589K|uc002jqi.2,p.E589K	retained_intron, protein_coding	uc010wst.1	nonsynonymous SNV	exon13	c.G175A	p.E59K	QSLGTEKETAQKECEAFLSTRPVGP	QSLGTEKETAQKKCEAFLSTRPVGP	1.0	8.0	-	-	3998_17:74011655-74011655 C>T_QSLGTEKETAQKKCEAFLSTRPVGP
14:70512765-70512765 G>A	0.0	3998	MELANOMA	-	-	-	-	SLC8A3	ENST00000534137,p.R892C|uc001xlv.3,p.R266C|ENST00000357887,p.R893C|NM_001130417,p.R266C|ENST00000216568,p.R266C|uc001xlw.3,p.R892C|uc001xlx.3,p.R893C|NM_182932,p.R889C|ENST00000381269,p.R895C|NM_182936,p.R252C|ENST00000356921,p.R889C|uc001xly.3,p.R895C|uc001xlu.3,p.R252C|NM_058240,p.R892C|ENST00000528359,p.R893C|ENST00000394330,p.R252C|uc001xlz.3,p.R889C|NM_183002,p.R895C|NM_033262,p.R893C	protein_coding, processed_transcript, nonsense_mediated_decay	uc001xlz.3	nonsynonymous SNV	exon7	c.C2665T	p.R889C	RRPHLGGELGGPRGCKLATTWLFVS	RRPHLGGELGGPCGCKLATTWLFVS	1.0	10.0	-	-	3998_14:70512765-70512765 G>A_RRPHLGGELGGPCGCKLATTWLFVS
11:61058816-61058816 G>A	0.0	3998	MELANOMA	-	-	-	-	VWCE	ENST00000535599,p.P115S	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000535599	nonsynonymous SNV	exon2	c.C343T	p.P115S	VSHLHFSSQPSAPSAVGVASASLPM	VSHLHFSSQPSASSAVGVASASLPM	3.0	1.0	unscreened	-	3998_11:61058816-61058816 G>A_VSHLHFSSQPSASSAVGVASASLPM
19:57175441-57175441 G>A	0.0	3998	MELANOMA	-	-	-	-	ZNF835	NM_001005850,p.H376Y|uc010ygn.2,p.H376Y|ENST00000537055,p.H376Y|uc031rne.1,p.H376Y	protein_coding	uc031rne.1	nonsynonymous SNV	exon1	c.C1126T	p.H376Y	CHDCGKRFSNRSHLLQHRLVHTGER	CHDCGKRFSNRSYLLQHRLVHTGER	1.0	7.0	unscreened	-	3998_19:57175441-57175441 G>A_CHDCGKRFSNRSYLLQHRLVHTGER
9:22008946-22008946 C>T	1.0	3998	MELANOMA	-	-	-	-	CDKN2B	NM_078487,p.E3K|uc003zpo.3,p.E3K|uc022beo.1,p.E3K|ENST00000380142,p.E3K|NM_004936,p.E3K|uc003zpn.3,p.E3K|ENST00000276925,p.E3K|ENST00000539462,p.E3K	retained_intron, protein_coding	uc022beo.1	nonsynonymous SNV	exon1	c.G7A	p.E3K	MREENKGMPSGGGSD	MRKENKGMPSGGGSD	7.0	10.0	unscreened	-	3998_9:22008946-22008946 C>T_MRKENKGMPSGGGSD
2:74140629-74140629 G>T	0.0	3998	MELANOMA	-	-	-	-	ACTG2	uc010fey.3,p.G157C|NM_001199893,p.G114C|uc010yrn.2,p.G114C|ENST00000345517,p.G157C|uc002sjw.3,p.G157C|ENST00000409731,p.G114C|ENST00000409624,p.G157C|NM_001615,p.G157C	retained_intron, protein_coding, nonsense_mediated_decay	uc010yrn.2	nonsynonymous SNV	exon5	c.G340T	p.G114C	ASGRTTGIVLDSGDGVTHNVPIYEG	ASGRTTGIVLDSCDGVTHNVPIYEG	2.0	3.0	unscreened	-	3998_2:74140629-74140629 G>T_ASGRTTGIVLDSCDGVTHNVPIYEG
2:141242937-141242937 C>T	0.0	3998	MELANOMA	-	-	-	1	LRP1B	NM_018557,p.D3134N|uc002tvj.1,p.D3134N|ENST00000389484,p.D3134N	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon59	c.G9400A	p.D3134N	TILVSKRLKFPRDLSLDPQAGYLYW	TILVSKRLKFPRNLSLDPQAGYLYW	1.0	4.0	unscreened	-	3998_2:141242937-141242937 C>T_TILVSKRLKFPRNLSLDPQAGYLYW
12:4829979-4829979 C>T	0.0	3998	MELANOMA	-	-	-	-	GALNT8	NM_017417,p.P46S|ENST00000252318,p.P46S|uc001qne.1,p.P46S	protein_coding, processed_transcript	uc001qne.1	nonsynonymous SNV	exon1	c.C136T	p.P46S	QNLFTGGLHRELPLHLNKRYGAVIK	QNLFTGGLHRELSLHLNKRYGAVIK	1.0	8.0	unscreened	-	3998_12:4829979-4829979 C>T_QNLFTGGLHRELSLHLNKRYGAVIK
11:61058816-61058816 G>A	0.0	3998	MELANOMA	-	-	-	-	VWCE	ENST00000301770,p.S72F|NM_152718,p.S72F|uc001nra.3,p.S72F|ENST00000335613,p.S72F	retained_intron, protein_coding, nonsense_mediated_decay	uc001nra.3	nonsynonymous SNV	exon3	c.C215T	p.S72F	SMGGGHCTLPLCSFGCGSGICIAPN	SMGGGHCTLPLCFFGCGSGICIAPN	3.0	1.0	unscreened	-	3998_11:61058816-61058816 G>A_SMGGGHCTLPLCFFGCGSGICIAPN
5:158135160-158135160 A>G	0.0	3998	MELANOMA	-	-	-	1	EBF1	uc011ddx.3,p.M511T|NM_001290360,p.M525T|ENST00000313708,p.M524T|NM_182708,p.M493T|uc011ddw.2,p.M392T|ENST00000380654,p.M493T|uc010jip.3,p.M524T|NM_024007,p.M524T|uc003lxl.5,p.M479T	retained_intron, protein_coding, processed_transcript	uc011ddx.3	nonsynonymous SNV	exon15	c.T1532C	p.M511T	NSPYAIVPSSPTMASSTSLPSNCSS	NSPYAIVPSSPTTASSTSLPSNCSS	4.0	1.0	unscreened	-	3998_5:158135160-158135160 A>G_NSPYAIVPSSPTTASSTSLPSNCSS
2:179598223-179598223 C>T	0.0	3998	MELANOMA	-	-	-	-	TTN	uc021vsy.2,p.R4022Q|ENST00000342992,p.R4022Q|NM_133378,p.R4022Q|NM_001267550,p.R5266Q|ENST00000591111,p.R4949Q|ENST00000589042,p.R5266Q|uc031rqc.1,p.R5266Q|uc002umz.1,p.R683Q|NM_001256850,p.R4949Q|uc031rqd.1,p.R4949Q	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon52	c.G14846A	p.R4949Q	ELIVKEPAKIIERAELIQVTAGDPA	ELIVKEPAKIIEQAELIQVTAGDPA	5.0	1.0	unscreened	-	3998_2:179598223-179598223 C>T_ELIVKEPAKIIEQAELIQVTAGDPA
11:124189290-124189290 C>T	0.0	3998	MELANOMA	-	-	ID=COSM3710014;OCCURENCE=1(upper_aerodigestive_tract)	-	OR8D2	ENST00000357438,p.M268I|uc010sah.2,p.M268I|NM_001002918,p.M268I	protein_coding	uc010sah.2	nonsynonymous SNV	exon1	c.G804A	p.M268I	TFMYFKPPSSTTMEKEKVSSVFYIT	TFMYFKPPSSTTIEKEKVSSVFYIT	1.0	5.0	unscreened	-	3998_11:124189290-124189290 C>T_TFMYFKPPSSTTIEKEKVSSVFYIT
17:34093845-34093845 C>T	0.0	3998	MELANOMA	-	-	-	-	MMP28	uc002hjy.1,p.G412S	protein_coding, nonsense_mediated_decay	uc002hjy.1	nonsynonymous SNV	exon9	c.G1234A	p.G412S	KPVWGLPQLCRAGGLPRHPDAALFF	KPVWGLPQLCRASGLPRHPDAALFF	2.0	10.0	unscreened	-	3998_17:34093845-34093845 C>T_KPVWGLPQLCRASGLPRHPDAALFF
X:135498630-135498630 C>T	0.0	3998	MELANOMA	-	-	-	-	GPR112	ENST00000394143,p.P3075S|ENST00000412101,p.P2870S|ENST00000370652,p.P3075S|NM_153834,p.P3075S|uc004ezu.1,p.P3075S|ENST00000394141,p.P2870S|uc010nsb.1,p.P2870S	protein_coding	uc010nsb.1	nonsynonymous SNV	exon23	c.C8608T	p.P2870S	EISFPNDDFDKDPYCSSP	EISFPNDDFDKDSYCSSP	1.0	10.0	-	-	3998_X:135498630-135498630 C>T_EISFPNDDFDKDSYCSSP
4:185012376-185012376 G>A	0.0	3998	MELANOMA	-	-	-	-	ENPP6	uc003iwc.3,p.P426L|NM_153343,p.P426L|ENST00000296741,p.P426L	retained_intron, protein_coding	uc003iwc.3	nonsynonymous SNV	exon8	c.C1277T	p.P426L	LKGRASTAPPVWPSHCALALILLFL	LKGRASTAPPVWLSHCALALILLFL	1.0	8.0	unscreened	-	3998_4:185012376-185012376 G>A_LKGRASTAPPVWLSHCALALILLFL
12:50746645-50746645 C>T	0.0	3998	MELANOMA	-	-	-	-	FAM186A	ENST00000327337,p.G1324R|uc001rwl.2,p.G1324R|uc010smt.1,p.G1102R|NM_001145475,p.G1324R|ENST00000543111,p.G1324R	protein_coding, nonsense_mediated_decay	uc010smt.1	nonsynonymous SNV	exon1	c.G3304A	p.G1102R	GIPFTPQQAQALGIPLTPQQAQTQE	GIPFTPQQAQALRIPLTPQQAQTQE	1.0	2.0	unscreened	-	3998_12:50746645-50746645 C>T_GIPFTPQQAQALRIPLTPQQAQTQE
11:65793505-65793505 G>A	0.0	3998	MELANOMA	-	-	-	-	CATSPER1	ENST00000312106,p.H116Y|uc001ogt.3,p.H116Y|NM_053054,p.H116Y	retained_intron, protein_coding	uc001ogt.3	nonsynonymous SNV	exon1	c.C346T	p.H116Y	AVPSHRSYGEDYHDELQRDGRRHHD	AVPSHRSYGEDYYDELQRDGRRHHD	2.0	6.0	unscreened	-	3998_11:65793505-65793505 G>A_AVPSHRSYGEDYYDELQRDGRRHHD
12:119966524-119966524 G>A	0.0	3998	MELANOMA	-	-	-	-	CCDC60	NM_178499,p.G445E|ENST00000327554,p.G445E|uc001txe.3,p.G445E	protein_coding, processed_transcript	uc001txe.3	nonsynonymous SNV	exon12	c.G1334A	p.G445E	IAKMRHHISVVKGDAEEIADHWYFD	IAKMRHHISVVKEDAEEIADHWYFD	1.0	1.0	unscreened	-	3998_12:119966524-119966524 G>A_IAKMRHHISVVKEDAEEIADHWYFD
12:47629357-47629357 G>A	0.0	3998	MELANOMA	-	-	ID=COSM1721902;OCCURENCE=2(NS)	-	PCED1B	ENST00000432328,p.E171K|NM_001281429,p.E171K|uc021qxi.1,p.E171K|NM_138371,p.E171K|ENST00000546455,p.E171K|ENST00000548348,p.E51K|uc001rpq.3,p.E171K|uc001rpn.3,p.E171K	protein_coding	uc021qxi.1	nonsynonymous SNV	exon1	c.G511A	p.E171K	LLVWNTAMPVGEEVTGGFLPPKLRR	LLVWNTAMPVGEKVTGGFLPPKLRR	5.0	4.0	unscreened	-	3998_12:47629357-47629357 G>A_LLVWNTAMPVGEKVTGGFLPPKLRR
1:172425623-172425623 G>A	0.0	3998	MELANOMA	-	-	ID=COSM1689196;OCCURENCE=1(skin)	-	C1orf105	NM_001300760,p.M79I|ENST00000367725,p.M79I|ENST00000367727,p.M89I|uc001gik.3,p.M89I|ENST00000488100,p.M60I|NM_139240,p.M89I	protein_coding, processed_transcript	uc001gik.3	nonsynonymous SNV	exon4	c.G267A	p.M89I	LRNQQLCSTCQEMKMVQPRTMKIPD	LRNQQLCSTCQEIKMVQPRTMKIPD	1.0	3.0	unscreened	-	3998_1:172425623-172425623 G>A_LRNQQLCSTCQEIKMVQPRTMKIPD
2:196720612-196720612 C>T	0.0	3998	MELANOMA	-	-	-	-	DNAH7	NM_018897,p.E2840K|ENST00000312428,p.E2840K|uc002utj.4,p.E2840K	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon45	c.G8518A	p.E2840K	MDGLRKKQAALKEVQDKLARLQDTL	MDGLRKKQAALKKVQDKLARLQDTL	2.0	1.0	unscreened	-	3998_2:196720612-196720612 C>T_MDGLRKKQAALKKVQDKLARLQDTL
1:1216674-1216674 G>A	0.0	3998	MELANOMA	-	-	-	-	SCNN1D	uc001adt.1,p.R25K|NM_001130413,p.R25K|ENST00000379116,p.R25K|ENST00000379101,p.R25K	protein_coding, processed_transcript, nonsense_mediated_decay	uc001adt.1	nonsynonymous SNV	exon2	c.G74A	p.R25K	PRYLWPGHLSGPRRLTWSWCSDHRT	PRYLWPGHLSGPKRLTWSWCSDHRT	2.0	2.0	unscreened	-	3998_1:1216674-1216674 G>A_PRYLWPGHLSGPKRLTWSWCSDHRT
11:124617537-124617537 G>A	0.0	3998	MELANOMA	-	-	-	-	VSIG2	ENST00000326621,p.S293F|NM_014312,p.S293F|uc001qas.3,p.S293F	protein_coding	uc001qas.3	nonsynonymous SNV	exon7	c.C878T	p.S293F	SDLREDAIAPGISEHTCMRADSSKG	SDLREDAIAPGIFEHTCMRADSSKG	1.0	8.0	unscreened	-	3998_11:124617537-124617537 G>A_SDLREDAIAPGIFEHTCMRADSSKG
1:18809666-18809666 C>G	0.0	3998	MELANOMA	-	-	-	-	KLHDC7A	uc009vpg.3,p.R513G|NM_152375,p.R731G|uc001bax.3,p.R731G|ENST00000400664,p.R731G	protein_coding	uc009vpg.3	nonsynonymous SNV	exon1	c.C1537G	p.R513G	AVVDNLIYCVGRRSTLCFLADSVSP	AVVDNLIYCVGRGSTLCFLADSVSP	1.0	4.0	unscreened	-	3998_1:18809666-18809666 C>G_AVVDNLIYCVGRGSTLCFLADSVSP
20:51871408-51871408 G>A	0.0	3998	MELANOMA	-	-	-	-	TSHZ2	uc002xwo.3,p.E471K|ENST00000603338,p.E468K|NM_001193421,p.E468K|NM_173485,p.E471K|ENST00000329613,p.E468K|ENST00000371497,p.E471K|uc021wex.1,p.E468K	protein_coding, processed_transcript	uc021wex.1	nonsynonymous SNV	exon2	c.G1402A	p.E468K	ELKKESKKERPEETSKDEKVVKSED	ELKKESKKERPEKTSKDEKVVKSED	4.0	10.0	-	-	3998_20:51871408-51871408 G>A_ELKKESKKERPEKTSKDEKVVKSED
6:30954489-30954489 ->GTCACCAACTCTGGGTCCAGTGTGACCTCCAGTGGAGCCAGCACT	0.0	3998	MELANOMA	-	-	-	-	MUC21	uc003nsh.2,p.T179delinsTVTNSGSSVTSSGAST|uc021yuf.1,p.T163delinsTVTNSGSSVTSSGAST|NM_001010909,p.T179delinsTVTNSGSSVTSSGAST|ENST00000376296,p.T179delinsTVTNSGSSVTSSGAST	protein_coding	uc021yuf.1	nonframeshift insertion	exon1	c.489_490insGTCACCAACTCTGGGTCCAGTGTGACCTCCAGTGGAGCCAGCACT	p.T163delinsTVTNSGSSVTSSGAST	NSESSTTSSGASTATNSESSTVSSR	NSESSTTSSGASTVTNSGSSVTSSG	1.0	1.0	unscreened	-	3998_6:30954489-30954489 ->GTCACCAACTCTGGGTCCAGTGTGACCTCCAGTGGAGCCAGCACT_NSESSTTSSGASTVTNSGSSVTSSG
2:179614856-179614856 G>A	0.0	3998	MELANOMA	-	-	-	-	TTN	NM_133379,p.P4091S|ENST00000360870,p.P4091S|uc002unb.3,p.P4091S	retained_intron, protein_coding	uc002unb.3	nonsynonymous SNV	exon46	c.C12271T	p.P4091S	TNLHLLKTNPPVPPSGDTELLSFPV	TNLHLLKTNPPVSPSGDTELLSFPV	5.0	2.0	unscreened	-	3998_2:179614856-179614856 G>A_TNLHLLKTNPPVSPSGDTELLSFPV
5:140559816-140559816 C>T	0.0	3998	MELANOMA	-	-	ID=COSM736039;OCCURENCE=1(lung)	-	PCDHB8	uc011dai.2,p.P734L|ENST00000239444,p.P734L|NM_019120,p.P734L	protein_coding	uc011dai.2	nonsynonymous SNV	exon1	c.C2201T	p.P734L	SVGRCSVPEGPFPGHLVDVRGTGSL	SVGRCSVPEGPFLGHLVDVRGTGSL	2.0	9.0	unscreened	-	3998_5:140559816-140559816 C>T_SVGRCSVPEGPFLGHLVDVRGTGSL
7:141537753-141537753 G>A	0.0	3998	MELANOMA	-	-	-	-	PRSS37	uc003vws.2,p.P113S|ENST00000438520,p.P113S|uc003vwt.2,p.P70S|uc011krk.2,p.P100S|uc011krl.2,p.P113S|NM_001008270,p.P113S|NM_001171951,p.P113S|ENST00000350549,p.P113S	protein_coding, nonsense_mediated_decay	uc011krl.2	nonsynonymous SNV	exon3	c.C337T	p.P113S	MLIKLAKPAMLNPKVQPLTLATTNV	MLIKLAKPAMLNSKVQPLTLATTNV	1.0	2.0	unscreened	-	3998_7:141537753-141537753 G>A_MLIKLAKPAMLNSKVQPLTLATTNV
1:156815580-156815580 C>T	0.0	3998	MELANOMA	-	-	-	-	INSRR	uc010pht.2,p.D669N|ENST00000368195,p.D669N|NM_014215,p.D669N	protein_coding	uc010pht.2	nonsynonymous SNV	exon10	c.G2005A	p.D669N	CHRGLRLPTSNNDPRFDGEDGDPEA	CHRGLRLPTSNNNPRFDGEDGDPEA	1.0	9.0	-	-	3998_1:156815580-156815580 C>T_CHRGLRLPTSNNNPRFDGEDGDPEA
15:75585461-75585461 C>T	0.0	3998	MELANOMA	-	rs3964634	-	-	GOLGA6D	uc010uma.2,p.P517S|ENST00000434739,p.P517S|NM_001145224,p.P517S	protein_coding	uc010uma.2	nonsynonymous SNV	exon14	c.C1549T	p.P517S	QHLDSEEEEAPRPTPNIPEDLESRE	QHLDSEEEEAPRSTPNIPEDLESRE	1.0	1.0	unscreened	-	3998_15:75585461-75585461 C>T_QHLDSEEEEAPRSTPNIPEDLESRE
19:55493003-55493003 G>A	0.0	3998	MELANOMA	-	-	-	-	NLRP2	uc010eso.3,p.G136E|ENST00000263437,p.G136E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010eso.3	nonsynonymous SNV	exon5	c.G407A	p.G136E	LERFKTEAQETKGNVICLGKEVFKG	LERFKTEAQETKENVICLGKEVFKG	3.0	9.0	-	-	3998_19:55493003-55493003 G>A_LERFKTEAQETKENVICLGKEVFKG
14:23886085-23886085 C>T	0.0	3998	MELANOMA	-	-	-	-	MYH7	ENST00000355349,p.E1546K|NM_000257,p.E1546K|uc001wjx.3,p.E1546K	protein_coding	uc001wjx.3	nonsynonymous SNV	exon33	c.G4636A	p.E1546K	EAEKMELQSALEEAEASLEHEEGKI	EAEKMELQSALEKAEASLEHEEGKI	1.0	2.0	unscreened	-	3998_14:23886085-23886085 C>T_EAEKMELQSALEKAEASLEHEEGKI
5:158135160-158135160 A>G	0.0	3998	MELANOMA	-	-	-	1	EBF1	ENST00000517373,p.M456T	retained_intron, protein_coding, processed_transcript	ENST00000517373	nonsynonymous SNV	exon14	c.T1367C	p.M456T	QATNQVVPSSPTMASSTSLPSNCSS	QATNQVVPSSPTTASSTSLPSNCSS	4.0	1.0	unscreened	-	3998_5:158135160-158135160 A>G_QATNQVVPSSPTTASSTSLPSNCSS
6:30954354-30954354 ->GTCACCAACTCTG	0.0	3998	MELANOMA	-	-	-	-	MUC21	uc003nsh.2,p.T134fs|ENST00000376296,p.T134fs|uc021yuf.1,p.T118fs|NM_001010909,p.T134fs	protein_coding	uc021yuf.1	frameshift insertion	exon1	c.354_355insGTCACCAACTCTG	p.T118fs	NSESSTPSSGASTATNSDSSTTSSG	NSESSTPSSGASTVTNSGHQL	1.0	1.0	unscreened	-	3998_6:30954354-30954354 ->GTCACCAACTCTG_NSESSTPSSGASTVTNSGHQL
9:118949469-118949469 G>A	0.0	3998	MELANOMA	-	-	-	-	PAPPA	ENST00000328252,p.R151Q|NM_002581,p.R151Q|uc004bjn.3,p.R151Q	protein_coding, processed_transcript	uc004bjn.3	nonsynonymous SNV	exon2	c.G452A	p.R151Q	GLYDKCSYISRDRGWVVGIHTISDQ	GLYDKCSYISRDQGWVVGIHTISDQ	3.0	9.0	-	-	3998_9:118949469-118949469 G>A_GLYDKCSYISRDQGWVVGIHTISDQ
19:36018060-36018060 C>T	0.0	3998	MELANOMA	-	-	-	-	SBSN	uc002oad.2,p.G375E|ENST00000452271,p.G375E|NM_001166034,p.G375E	protein_coding	uc002oad.2	nonsynonymous SNV	exon1	c.G1124A	p.G375E	KETEKLGHGVHHGVNEAWKEAEKFG	KETEKLGHGVHHEVNEAWKEAEKFG	1.0	3.0	unscreened	-	3998_19:36018060-36018060 C>T_KETEKLGHGVHHEVNEAWKEAEKFG
5:171777546-171777546 T>C	0.0	3998	MELANOMA	-	-	-	-	SH3PXD2B	ENST00000311601,p.N278S|ENST00000519643,p.N278S|uc003mbr.3,p.N278S|NM_001017995,p.N278S	protein_coding, processed_transcript	uc003mbr.3	nonsynonymous SNV	exon10	c.A833G	p.N278S	KEGWAPASYLKKNSGEPLPPKPGPG	KEGWAPASYLKKSSGEPLPPKPGPG	7.0	8.0	-	-	3998_5:171777546-171777546 T>C_KEGWAPASYLKKSSGEPLPPKPGPG
2:207170159-207170159 C>T	1.0	3998	MELANOMA	-	-	-	-	ZDBF2	NM_001285549,p.P301S|uc002vbp.2,p.P303S|NM_020923,p.P303S|ENST00000374423,p.P303S|uc031rqy.1,p.P301S	protein_coding	uc031rqy.1	nonsynonymous SNV	exon7	c.C901T	p.P301S	RMGTKGSLRVKSPSKLAVNPNKTDM	RMGTKGSLRVKSSSKLAVNPNKTDM	6.0	7.0	-	-	3998_2:207170159-207170159 C>T_RMGTKGSLRVKSSSKLAVNPNKTDM
17:76563203-76563203 C>T	0.0	3998	MELANOMA	-	-	-	-	DNAH17	uc010dhp.2,p.E444K|ENST00000585328,p.E444K|uc002jvv.2,p.E146K|ENST00000389840,p.E444K|NM_173628,p.E444K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dhp.2	nonsynonymous SNV	exon10	c.G1330A	p.E444K	KTAIEFLKLEKIELGGVRGNLLGSL	KTAIEFLKLEKIKLGGVRGNLLGSL	1.0	2.0	unscreened	-	3998_17:76563203-76563203 C>T_KTAIEFLKLEKIKLGGVRGNLLGSL
15:28230328-28230328 G>A	0.0	3998	MELANOMA	-	-	-	-	OCA2	ENST00000382996,p.R416W|ENST00000354638,p.R416W|ENST00000353809,p.R392W|uc010ayv.3,p.R392W|NM_000275,p.R416W|NM_001300984,p.R392W|uc001zbh.4,p.R416W	protein_coding, processed_transcript	uc010ayv.3	nonsynonymous SNV	exon12	c.C1174T	p.R392W	TGFFDYCAVKAYRLSRGRVWAMIIM	TGFFDYCAVKAYWLSRGRVWAMIIM	1.0	4.0	unscreened	-	3998_15:28230328-28230328 G>A_TGFFDYCAVKAYWLSRGRVWAMIIM
19:39329617-39329617 ->A	0.0	3998	MELANOMA	-	-	-	-	HNRNPL	uc002ojk.3,p.V80fs|uc002ojp.1,p.V80fs|ENST00000600873,p.V291fs|NM_001005335,p.V291fs|uc002ojl.3,p.V80fs|NM_001533,p.V424fs|uc021uui.1,p.V291fs|ENST00000221419,p.V424fs|uc021uuh.1,p.V424fs|uc002ojj.1,p.V80fs	retained_intron, protein_coding, nonsense_mediated_decay	uc021uui.1	frameshift insertion	exon9	c.872dupT	p.V291fs	VKFMKSKPGAAMVEMADGYAVDRAI	VKFMKSKPGAAMVGDG	10.0	9.0	-	-	3998_19:39329617-39329617 ->A_VKFMKSKPGAAMVGDG
17:38854565-38854565 G>A	0.0	3998	MELANOMA	-	-	-	-	KRT24	ENST00000264651,p.T501I|NM_019016,p.T501I|uc002hvd.3,p.T501I	protein_coding	uc002hvd.3	nonsynonymous SNV	exon8	c.C1502T	p.T501I	QGRDSSKTRVTKTIVEELVDGKVVS	QGRDSSKTRVTKIIVEELVDGKVVS	1.0	3.0	unscreened	-	3998_17:38854565-38854565 G>A_QGRDSSKTRVTKIIVEELVDGKVVS
3:46063319-46063319 C>T	0.0	3998	MELANOMA	-	-	-	-	XCR1	uc021wwx.1,p.V41M|ENST00000309285,p.V41M|ENST00000542109,p.V41M|uc003cpf.3,p.V41M|uc003cpe.3,p.V41M|NM_001024644,p.V41M|NM_005283,p.V41M	protein_coding	uc021wwx.1	nonsynonymous SNV	exon1	c.G121A	p.V41M	FATLATTVLYCLVFLLSLVGNSLVL	FATLATTVLYCLMFLLSLVGNSLVL	3.0	4.0	unscreened	-	3998_3:46063319-46063319 C>T_FATLATTVLYCLMFLLSLVGNSLVL
3:86028349-86028349 C>T	0.0	3998	MELANOMA	-	-	ID=COSM110051;OCCURENCE=1(skin)	-	CADM2	uc003dqj.3,p.P327S|NM_001256502,p.P219S|ENST00000407528,p.P327S|uc021xba.1,p.P219S|NM_001256503,p.P219S|NM_001167674,p.P327S|ENST00000405615,p.P329S|uc003dqm.2,p.P219S|uc003dql.3,p.P329S|NM_153184,p.P329S	protein_coding, processed_transcript	uc021xba.1	nonsynonymous SNV	exon8	c.C655T	p.P219S	DVPNTLLPTTIIPSLTTATVTTTVA	DVPNTLLPTTIISSLTTATVTTTVA	1.0	5.0	unscreened	-	3998_3:86028349-86028349 C>T_DVPNTLLPTTIISSLTTATVTTTVA
2:179469557-179469557 C>T	1.0	3998	MELANOMA	-	-	-	-	TTN	NM_133378,p.D15519N|ENST00000342992,p.D15519N|NM_133432,p.D9147N|NM_001267550,p.D18087N|uc031rqc.1,p.D18087N|uc031rqd.1,p.D16446N|ENST00000342175,p.D9214N|uc021vtb.2,p.D9022N|ENST00000359218,p.D9147N|uc021vta.2,p.D9147N|NM_133437,p.D9214N|NM_001256850,p.D16446N|ENST00000591111,p.D16446N|uc021vsy.2,p.D15519N|NM_003319,p.D9022N|ENST00000589042,p.D18087N|ENST00000460472,p.D9022N|uc021vsz.2,p.D9214N	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon231	c.G49336A	p.D16446N	TDIKAESCYLTWDAPLDNGGSEITH	TDIKAESCYLTWNAPLDNGGSEITH	5.0	6.0	unscreened	-	3998_2:179469557-179469557 C>T_TDIKAESCYLTWNAPLDNGGSEITH
19:39592170-39592170 G>A	0.0	3998	MELANOMA	-	-	-	-	PAPL	ENST00000594229,p.D328N|uc010egl.3,p.D328N	protein_coding, nonsense_mediated_decay	uc010egl.3	nonsynonymous SNV	exon9	c.G982A	p.D328N	TPTREGLSTSSQDLLMGRS	TPTREGLSTSSQNLLMGRS	1.0	3.0	unscreened	-	3998_19:39592170-39592170 G>A_TPTREGLSTSSQNLLMGRS
22:19119351-19119351 G>A	0.0	3998	MELANOMA	-	-	-	-	TSSK2	ENST00000399635,p.D147N|NM_053006,p.D147N|uc002zow.2,p.D147N	protein_coding	uc002zow.2	nonsynonymous SNV	exon1	c.G439A	p.D147N	RDLKCENLLLDKDFNIKLSDFGFSK	RDLKCENLLLDKNFNIKLSDFGFSK	1.0	6.0	unscreened	-	3998_22:19119351-19119351 G>A_RDLKCENLLLDKNFNIKLSDFGFSK
1:159846539-159846539 C>T	0.0	3998	MELANOMA	-	-	-	-	CFAP45	uc001fui.3,p.D387N|uc001fuk.3,p.D302N|NM_012337,p.D387N|ENST00000368099,p.D387N|ENST00000426543,p.D302N	protein_coding, processed_transcript	uc001fuk.3	nonsynonymous SNV	exon11	c.G904A	p.D302N	MQEKAQDYQAEQDALRAKRNQEVAD	MQEKAQDYQAEQNALRAKRNQEVAD	1.0	6.0	unscreened	-	3998_1:159846539-159846539 C>T_MQEKAQDYQAEQNALRAKRNQEVAD
18:61324085-61324085 C>T	0.0	3998	MELANOMA	-	-	-	-	SERPINB3	uc002lji.3,p.E250K|uc002ljg.3,p.E250K|ENST00000283752,p.E250K|NM_006919,p.E250K	protein_coding	uc002lji.3	nonsynonymous SNV	exon7	c.G748A	p.E250K	GKDLSMIVLLPNEIDGLQKLEEKLT	GKDLSMIVLLPNKIDGLQKLEEKLT	1.0	9.0	-	-	3998_18:61324085-61324085 C>T_GKDLSMIVLLPNKIDGLQKLEEKLT
1:94471008-94471008 C>T	0.0	3998	MELANOMA	-	-	-	-	ABCA4	uc001dqh.3,p.E2046K|uc001dqi.1,p.E165K|NM_000350,p.E2046K|ENST00000536513,p.E316K|ENST00000370225,p.E2046K|ENST00000535881,p.E165K	protein_coding, processed_transcript	uc001dqi.1	nonsynonymous SNV	exon5	c.G493A	p.E165K	YLYARLRGVPAEEIEKVANWSIKSL	YLYARLRGVPAEKIEKVANWSIKSL	2.0	2.0	unscreened	-	3998_1:94471008-94471008 C>T_YLYARLRGVPAEKIEKVANWSIKSL
7:127991494-127991494 G>A	0.0	3998	MELANOMA	-	-	-	-	PRRT4	uc022aky.1,p.P706S|NM_001174164,p.P706S|ENST00000535159,p.P706S|ENST00000446477,p.P706S|ENST00000435512,p.P500S	protein_coding	uc022aky.1	nonsynonymous SNV	exon6	c.C2116T	p.P706S	CRGFEGAAANPAPSPASSPCSDYTV	CRGFEGAAANPASSPASSPCSDYTV	1.0	9.0	-	-	3998_7:127991494-127991494 G>A_CRGFEGAAANPASSPASSPCSDYTV
14:20404274-20404274 C>T	0.0	3998	MELANOMA	-	-	ID=COSM1179120;OCCURENCE=1(central_nervous_system),1(prostate)	-	OR4K1	uc001vwj.2,p.A150V|NM_001004063,p.A150V|ENST00000285600,p.A150V	protein_coding	uc001vwj.2	nonsynonymous SNV	exon1	c.C449T	p.A150V	RRLCVIFVSISWAVGVLHSVSHLAF	RRLCVIFVSISWVVGVLHSVSHLAF	1.0	8.0	-	-	3998_14:20404274-20404274 C>T_RRLCVIFVSISWVVGVLHSVSHLAF
15:45387267-45387267 C>T	0.0	3998	MELANOMA	-	-	-	-	DUOX2	ENST00000603300,p.R1421Q|NM_014080,p.R1421Q|uc010bea.3,p.R1421Q|uc001zun.3,p.R1421Q|ENST00000389039,p.R1421Q	retained_intron, protein_coding	uc010bea.3	nonsynonymous SNV	exon32	c.G4262A	p.R1421Q	MLCKKIYFIWVTRTQRQFEWLADII	MLCKKIYFIWVTQTQRQFEWLADII	2.0	5.0	unscreened	-	3998_15:45387267-45387267 C>T_MLCKKIYFIWVTQTQRQFEWLADII
7:54617573-54617573 C>T	0.0	3998	MELANOMA	-	-	-	-	VSTM2A	uc010kzf.3,p.S115F|uc022adk.1,p.S115F|ENST00000407838,p.S115F|ENST00000402026,p.S114F|ENST00000302287,p.S115F|ENST00000402613,p.S115F|NM_182546,p.S115F|NM_001301009,p.S115F|ENST00000404951,p.S115F	retained_intron, protein_coding, processed_transcript	uc022adk.1	nonsynonymous SNV	exon4	c.C344T	p.S115F	VQGNDISHKLQISKVRKKDEGLYEC	VQGNDISHKLQIFKVRKKDEGLYEC	1.0	6.0	unscreened	-	3998_7:54617573-54617573 C>T_VQGNDISHKLQIFKVRKKDEGLYEC
12:121097702-121097702 G>A	0.0	3998	MELANOMA	-	-	-	-	CABP1	uc001tyu.3,p.E226K|NM_001033677,p.E226K|ENST00000316803,p.E226K	retained_intron, protein_coding	uc001tyu.3	nonsynonymous SNV	exon2	c.G676A	p.E226K	SAFGQDRSLRPEEIEELREAFREFD	SAFGQDRSLRPEKIEELREAFREFD	1.0	5.0	unscreened	-	3998_12:121097702-121097702 G>A_SAFGQDRSLRPEKIEELREAFREFD
12:121097702-121097702 G>A	0.0	3998	MELANOMA	-	-	-	-	CABP1	NM_004276,p.E23K|uc001tyw.4,p.E23K|ENST00000351200,p.E23K	retained_intron, protein_coding	uc001tyw.4	nonsynonymous SNV	exon2	c.G67A	p.E23K	NLSRKDRSLRPEEIEELREAFREFD	NLSRKDRSLRPEKIEELREAFREFD	1.0	5.0	unscreened	-	3998_12:121097702-121097702 G>A_NLSRKDRSLRPEKIEELREAFREFD
12:121097702-121097702 G>A	0.0	3998	MELANOMA	-	-	-	-	CABP1	uc001tyv.4,p.E83K|uc001tyx.3,p.E68K|ENST00000453000,p.E162K|NM_031205,p.E83K|ENST00000288616,p.E83K	retained_intron, protein_coding	uc001tyx.3	nonsynonymous SNV	exon2	c.G202A	p.E68K	ENRQPDRSLRPEEIEELREAFREFD	ENRQPDRSLRPEKIEELREAFREFD	1.0	5.0	unscreened	-	3998_12:121097702-121097702 G>A_ENRQPDRSLRPEKIEELREAFREFD
1:190068190-190068190 G>A	0.0	3998	MELANOMA	-	-	-	-	BRINP3	ENST00000534846,p.S318L|ENST00000367462,p.S420L|uc001gse.1,p.S420L|uc010pot.1,p.S318L|NM_199051,p.S420L	protein_coding, processed_transcript	uc010pot.1	nonsynonymous SNV	exon7	c.C953T	p.S318L	LYCNENGLLGSFSEETHSCTCPNDQ	LYCNENGLLGSFLEETHSCTCPNDQ	1.0	3.0	unscreened	-	3998_1:190068190-190068190 G>A_LYCNENGLLGSFLEETHSCTCPNDQ
1:159846539-159846539 C>T	0.0	3998	MELANOMA	-	-	-	-	CFAP45	uc009wtc.1,p.G386E	protein_coding, processed_transcript	uc009wtc.1	nonsynonymous SNV	exon10	c.G1157A	p.G386E	FCALTGPLPTFPGCLAGQAQPGGCR	FCALTGPLPTFPECLAGQAQPGGCR	1.0	6.0	unscreened	-	3998_1:159846539-159846539 C>T_FCALTGPLPTFPECLAGQAQPGGCR
8:144943913-144943913 G>A	0.0	3998	MELANOMA	-	-	-	-	EPPK1	ENST00000525985,p.T1170I|uc003zaa.1,p.T1170I|NM_031308,p.T1170I	protein_coding	uc003zaa.1	nonsynonymous SNV	exon1	c.C3509T	p.T1170I	RRGLLEDVQEGRTTVPQLLASVQRW	RRGLLEDVQEGRITVPQLLASVQRW	1.0	7.0	unscreened	-	3998_8:144943913-144943913 G>A_RRGLLEDVQEGRITVPQLLASVQRW
19:39592170-39592170 G>A	0.0	3998	MELANOMA	-	-	-	-	PAPL	ENST00000601575,p.D360N	protein_coding, nonsense_mediated_decay	ENST00000601575	nonsynonymous SNV	exon9	c.G1078A	p.D360N	TPTREGLSTSSQDLLAVRSG	TPTREGLSTSSQNLLAVRSG	1.0	3.0	unscreened	-	3998_19:39592170-39592170 G>A_TPTREGLSTSSQNLLAVRSG
3:36873289-36873289 C>-	0.0	3998	MELANOMA	-	-	-	-	TRANK1	NM_014831,p.R2551fs|ENST00000428977,p.R2001fs|ENST00000301807,p.R2001fs|uc003cgj.3,p.R2551fs|ENST00000429976,p.R2551fs	protein_coding, processed_transcript	uc003cgj.3	frameshift deletion	exon21	c.7653delG	p.R2551fs	PLLYRHFREIESRLQLMSMDCPGQV	PLLYRHFREIESSCSS	9.0	8.0	unscreened	-	3998_3:36873289-36873289 C>-_PLLYRHFREIESSCSS
2:18766023-18766023 G>A	0.0	3998	MELANOMA	-	-	-	-	NT5C1B,NT5C1B-RDH14	ENST00000406971,p.S138L	retained_intron, protein_coding,protein_coding, nonsense_mediated_decay, processed_transcript	ENST00000406971	nonsynonymous SNV	exon5	c.C413T	p.S138L	KCKRIRRPGPKASCGKSARPGTRSR	KCKRIRRPGPKALCGKSARPGTRSR	1.0	5.0	unscreened	-	3998_2:18766023-18766023 G>A_KCKRIRRPGPKALCGKSARPGTRSR
17:8647006-8647006 C>T	0.0	3998	MELANOMA	-	-	-	-	CCDC42	ENST00000293845,p.E78K|uc002glo.3,p.E78K|ENST00000539522,p.E78K|uc002gln.3,p.E78K|NM_001158261,p.E78K|NM_144681,p.E78K	protein_coding	uc002glo.3	nonsynonymous SNV	exon3	c.G232A	p.E78K	QRRMETLNLRWEELGVKEAQLKAHI	QRRMETLNLRWEKLGVKEAQLKAHI	1.0	7.0	unscreened	-	3998_17:8647006-8647006 C>T_QRRMETLNLRWEKLGVKEAQLKAHI
14:23893328-23893328 G>A	0.0	3998	MELANOMA	-	-	ID=COSM1258462;OCCURENCE=1(oesophagus)	-	MYH7	ENST00000355349,p.R904C|NM_000257,p.R904C|uc001wjx.3,p.R904C	protein_coding	uc001wjx.3	nonsynonymous SNV	exon23	c.C2710T	p.R904C	QAEQDNLADAEERCDQLIKNKIQLE	QAEQDNLADAEECCDQLIKNKIQLE	1.0	2.0	unscreened	-	3998_14:23893328-23893328 G>A_QAEQDNLADAEECCDQLIKNKIQLE
12:54971044-54971044 C>T	0.0	3998	MELANOMA	-	-	-	-	PDE1B	uc010spa.1,p.P474S|uc001sge.3,p.P495S|ENST00000550620,p.P495S|uc001sgd.2,p.P515S|uc010soz.2,p.P378S|NM_001165975,p.P495S|ENST00000243052,p.P515S|NM_001288769,p.P474S|uc001sgf.3,p.P378S|NM_001288768,p.P378S|ENST00000538346,p.P474S|uc009znq.3,p.P311S|NM_000924,p.P515S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010spa.1	nonsynonymous SNV	exon14	c.C1420T	p.P474S	GITNQMSIDELSPCEEEAPPSPAED	GITNQMSIDELSSCEEEAPPSPAED	4.0	3.0	unscreened	-	3998_12:54971044-54971044 C>T_GITNQMSIDELSSCEEEAPPSPAED
1:200973493-200973493 G>A	0.0	3998	MELANOMA	-	-	-	-	KIF21B	uc009wzl.2,p.L331F|ENST00000422435,p.L331F|ENST00000360529,p.L331F|uc010ppn.2,p.L331F|NM_017596,p.L331F|NM_001252100,p.L331F|uc001gvs.2,p.L331F|NM_001252103,p.L331F|ENST00000332129,p.L331F|uc001gvt.1,p.L189F|NM_001252102,p.L331F|ENST00000461742,p.L331F|uc001gvr.2,p.L331F	retained_intron, protein_coding, nonsense_mediated_decay	uc010ppn.2	nonsynonymous SNV	exon7	c.C991T	p.L331F	HVPYRDSKLTRLLQDSLGGNSQTIM	HVPYRDSKLTRLFQDSLGGNSQTIM	5.0	7.0	unscreened	-	3998_1:200973493-200973493 G>A_HVPYRDSKLTRLFQDSLGGNSQTIM
4:126328089-126328089 C>T	0.0	3998	MELANOMA	-	-	-	1	FAT4	uc011cgp.2,p.R86C|NM_024582,p.R1788C|uc003ifj.4,p.R1788C|NM_001291303,p.R1788C|ENST00000394329,p.R1788C|NM_001291285,p.R1788C|ENST00000335110,p.R86C	retained_intron, protein_coding	uc011cgp.2	nonsynonymous SNV	exon3	c.C256T	p.R86C	TYTIISGADDSFRIDPESGDLIATR	TYTIISGADDSFCIDPESGDLIATR	5.0	6.0	unscreened	-	3998_4:126328089-126328089 C>T_TYTIISGADDSFCIDPESGDLIATR
19:42265204-42265204 G>A	0.0	3998	MELANOMA	-	-	-	-	CEACAM6	NM_002483,p.E158K|uc002orm.2,p.E158K|ENST00000199764,p.E158K	protein_coding	uc002orm.2	nonsynonymous SNV	exon3	c.G472A	p.E158K	KPSISSNNSNPVEDKDAVAFTCEPE	KPSISSNNSNPVKDKDAVAFTCEPE	1.0	7.0	unscreened	-	3998_19:42265204-42265204 G>A_KPSISSNNSNPVKDKDAVAFTCEPE
3:36779418-36779418 C>T	0.0	3998	MELANOMA	-	-	-	-	DCLK3	NM_033403,p.D245N|ENST00000416516,p.D245N|uc003cgi.2,p.D245N	protein_coding, processed_transcript	uc003cgi.2	nonsynonymous SNV	exon2	c.G733A	p.D245N	ESHAQGAAKAKKDLVEVLPVTEEGL	ESHAQGAAKAKKNLVEVLPVTEEGL	1.0	3.0	unscreened	-	3998_3:36779418-36779418 C>T_ESHAQGAAKAKKNLVEVLPVTEEGL
3:108698393-108698393 C>T	0.0	3998	MELANOMA	-	-	-	-	MORC1	ENST00000483760,p.E795K|uc011bhn.2,p.E795K|uc003dxl.3,p.E816K|NM_014429,p.E816K|ENST00000232603,p.E816K	protein_coding	uc011bhn.2	nonsynonymous SNV	exon23	c.G2383A	p.E795K	SSPASSQSTPVKETVRKLKSKLREI	SSPASSQSTPVKKTVRKLKSKLREI	2.0	2.0	unscreened	-	3998_3:108698393-108698393 C>T_SSPASSQSTPVKKTVRKLKSKLREI
7:27286024-27286024 G>A	0.0	3998	MELANOMA	-	-	-	-	EVX1	uc003szd.1,p.E402K|uc011jzn.1,p.E220K|ENST00000535619,p.E220K|ENST00000496902,p.E402K|NM_001989,p.E402K	protein_coding	uc011jzn.1	nonsynonymous SNV	exon4	c.G658A	p.E220K	SKASSVALDQREEVPLTR	SKASSVALDQREKVPLTR	1.0	8.0	unscreened	-	3998_7:27286024-27286024 G>A_SKASSVALDQREKVPLTR
4:71509404-71509404 C>G	0.0	3998	MELANOMA	-	-	-	-	ENAM	NM_031889,p.P754R|ENST00000396073,p.P754R|uc011caw.1,p.P754R	retained_intron, protein_coding, processed_transcript	uc011caw.1	nonsynonymous SNV	exon9	c.C2261G	p.P754R	ESRGYYVNNAAGPEESTLFPSRNSW	ESRGYYVNNAAGREESTLFPSRNSW	3.0	7.0	unscreened	-	3998_4:71509404-71509404 C>G_ESRGYYVNNAAGREESTLFPSRNSW
11:102709361-102709361 T>C	0.0	3998	MELANOMA	-	-	-	-	MMP3	NM_002422,p.T384A|ENST00000299855,p.T384A|uc001phj.1,p.T384A	protein_coding, nonsense_mediated_decay	uc001phj.1	nonsynonymous SNV	exon8	c.A1150G	p.T384A	YPRGIHTLGFPPTVRKIDAAISDKE	YPRGIHTLGFPPAVRKIDAAISDKE	1.0	5.0	unscreened	-	3998_11:102709361-102709361 T>C_YPRGIHTLGFPPAVRKIDAAISDKE
7:99445222-99445222 G>A	0.0	3998	MELANOMA	0.0005	-	-	-	CYP3A43	ENST00000222382,p.E144K|NM_057095,p.E144K|NM_057096,p.E144K|ENST00000434806,p.E144K|uc003urx.1,p.E144K|ENST00000354829,p.E144K|ENST00000312017,p.E144K|uc003ury.1,p.E144K|NM_022820,p.E144K|uc003urz.1,p.E144K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003urz.1	nonsynonymous SNV	exon5	c.G430A	p.E144K	LLSPAFTSVKFKEMVPIISQCGDML	LLSPAFTSVKFKKMVPIISQCGDML	2.0	8.0	-	-	3998_7:99445222-99445222 G>A_LLSPAFTSVKFKKMVPIISQCGDML
15:34634224-34634224 G>A	1.0	3998	MELANOMA	-	-	-	-	NOP10	ENST00000557912,p.P28S	protein_coding	ENST00000557912	nonsynonymous SNV	exon2	c.C82T	p.P28S	TLKMTNTLDTESPSRNASRCS	TLKMTNTLDTESSSRNASRCS	10.0	7.0	-	-	3998_15:34634224-34634224 G>A_TLKMTNTLDTESSSRNASRCS
5:140261965-140261965 G>A	0.0	3998	MELANOMA	-	-	-	-	PCDHA13	ENST00000289272,p.E38K|NM_018904,p.E38K|uc003lie.1,p.E38K|ENST00000409494,p.E38K|NM_031865,p.E38K|uc003lif.2,p.E38K|uc003lid.3,p.E38K	protein_coding	uc003lif.2	nonsynonymous SNV	exon1	c.G112A	p.E38K	TGSGQLHYSVPEEAKHGTFVGRIAQ	TGSGQLHYSVPEKAKHGTFVGRIAQ	1.0	7.0	unscreened	-	3998_5:140261965-140261965 G>A_TGSGQLHYSVPEKAKHGTFVGRIAQ
13:29599548-29599548 G>A	0.0	3998	MELANOMA	-	-	ID=COSM946556;OCCURENCE=1(endometrium)	-	MTUS2	ENST00000431530,p.G248E|NM_001033602,p.G248E|uc001usl.4,p.G248E	retained_intron, protein_coding, processed_transcript	uc001usl.4	nonsynonymous SNV	exon1	c.G743A	p.G248E	PAAFPATDSTSEGKSVRHPKPSTSE	PAAFPATDSTSEEKSVRHPKPSTSE	1.0	4.0	unscreened	-	3998_13:29599548-29599548 G>A_PAAFPATDSTSEEKSVRHPKPSTSE
16:4242230-4242230 C>T	0.0	3998	MELANOMA	-	-	-	-	SRL	ENST00000537996,p.G407E|NM_001098814,p.G449E|ENST00000399609,p.G449E|uc002cvz.4,p.G449E	protein_coding, nonsense_mediated_decay	uc002cvz.4	nonsynonymous SNV	exon6	c.G1346A	p.G449E	QELPGLLGSLGLGKNPGALNCDKTG	QELPGLLGSLGLEKNPGALNCDKTG	1.0	5.0	unscreened	-	3998_16:4242230-4242230 C>T_QELPGLLGSLGLEKNPGALNCDKTG
9:79323793-79323793 C>T	0.0	3998	MELANOMA	-	-	-	-	PRUNE2	ENST00000376718,p.D1133N|uc022bih.1,p.D955N|NM_015225,p.D1133N|ENST00000428286,p.D774N|uc010mpk.3,p.D1133N	protein_coding, processed_transcript	uc022bih.1	nonsynonymous SNV	exon7	c.G2863A	p.D955N	EDTQSTATISDMDNDLDWDDCSGGA	EDTQSTATISDMNNDLDWDDCSGGA	4.0	7.0	unscreened	-	3998_9:79323793-79323793 C>T_EDTQSTATISDMNNDLDWDDCSGGA
19:39592170-39592170 G>A	0.0	3998	MELANOMA	-	-	-	-	PAPL	NM_001004318,p.G369E|uc002oki.3,p.G369E|ENST00000331256,p.G369E	protein_coding, nonsense_mediated_decay	uc002oki.3	nonsynonymous SNV	exon11	c.G1106A	p.G369E	YTNPRGPVHIITGSAGCEERLTPFA	YTNPRGPVHIITESAGCEERLTPFA	1.0	3.0	unscreened	-	3998_19:39592170-39592170 G>A_YTNPRGPVHIITESAGCEERLTPFA
8:10468802-10468802 C>T	0.0	3998	MELANOMA	-	-	-	-	RP1L1	uc003wtc.3,p.G936R|ENST00000382483,p.G936R|NM_178857,p.G936R	protein_coding, processed_transcript	uc003wtc.3	nonsynonymous SNV	exon4	c.G2806A	p.G936R	EEKTLRSGGGPQGQEEASGVSPSSL	EEKTLRSGGGPQRQEEASGVSPSSL	1.0	3.0	unscreened	-	3998_8:10468802-10468802 C>T_EEKTLRSGGGPQRQEEASGVSPSSL
1:67184988-67184988 G>A	0.0	3998	MELANOMA	-	-	-	-	SGIP1	ENST00000237247,p.G579R|uc001dcs.3,p.G148R|uc010opd.2,p.G148R|NM_032291,p.G548R|uc009wat.3,p.G342R|uc001dcr.3,p.G548R|ENST00000371037,p.G548R|ENST00000435165,p.G53R|uc001dcu.3,p.G53R|ENST00000371035,p.G338R	protein_coding, processed_transcript	uc010opd.2	nonsynonymous SNV	exon12	c.G442A	p.G148R	GKFYLTFEGSSRGPSPLTMGAQDTL	GKFYLTFEGSSRRPSPLTMGAQDTL	4.0	6.0	unscreened	-	3998_1:67184988-67184988 G>A_GKFYLTFEGSSRRPSPLTMGAQDTL
1:67184988-67184988 G>A	0.0	3998	MELANOMA	-	-	-	-	SGIP1	ENST00000371036,p.G350R|uc001dct.3,p.G150R|ENST00000371039,p.G351R	protein_coding, processed_transcript	uc001dct.3	nonsynonymous SNV	exon10	c.G448A	p.G150R	ERRCETPAGSSRGPSPLTMGAQDTL	ERRCETPAGSSRRPSPLTMGAQDTL	4.0	6.0	unscreened	-	3998_1:67184988-67184988 G>A_ERRCETPAGSSRRPSPLTMGAQDTL
7:99445222-99445222 G>A	0.0	3998	MELANOMA	0.0005	-	-	-	CYP3A43	ENST00000433277,p.E93K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000433277	nonsynonymous SNV	exon3	c.G277A	p.E93K	LLSPAFTSVKFKEVRK	LLSPAFTSVKFKKVRK	2.0	8.0	-	-	3998_7:99445222-99445222 G>A_LLSPAFTSVKFKKVRK
9:114454713-114454713 C>T	0.0	3998	MELANOMA	-	-	-	-	C9orf84	NM_173521,p.E1118K|ENST00000394779,p.E1079K|uc010mug.4,p.E1044K|uc004bfr.3,p.E1118K|uc004bfq.3,p.E1079K|ENST00000374287,p.E1118K|ENST00000318737,p.E1118K|NM_001080551,p.E1079K|ENST00000394777,p.E1044K	protein_coding	uc010mug.4	nonsynonymous SNV	exon22	c.G3130A	p.E1044K	SITKSPQISSPQENRNQISTLSSQS	SITKSPQISSPQKNRNQISTLSSQS	1.0	3.0	unscreened	-	3998_9:114454713-114454713 C>T_SITKSPQISSPQKNRNQISTLSSQS
5:156589645-156589645 G>A	0.0	3998	MELANOMA	-	-	-	-	FAM71B	ENST00000302938,p.T544I|NM_130899,p.T544I|uc003lwn.3,p.T544I	protein_coding	uc003lwn.3	nonsynonymous SNV	exon2	c.C1631T	p.T544I	SKISSFLRSLRATPGSKTRVTSHDR	SKISSFLRSLRAIPGSKTRVTSHDR	1.0	7.0	unscreened	-	3998_5:156589645-156589645 G>A_SKISSFLRSLRAIPGSKTRVTSHDR
19:49559501-49559501 C>T	0.0	3998	MELANOMA	-	-	-	-	CGB7	uc010yah.1,p.D239N|ENST00000451356,p.D239N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010yah.1	nonsynonymous SNV	exon7	c.G715A	p.D239N	GLVGACRASPTPDTPPGVGAEQSSG	GLVGACRASPTPNTPPGVGAEQSSG	1.0	7.0	unscreened	-	3998_19:49559501-49559501 C>T_GLVGACRASPTPNTPPGVGAEQSSG
15:79585759-79585759 G>A	0.0	3998	MELANOMA	-	-	ID=COSM1182922;OCCURENCE=1(large_intestine)	-	ANKRD34C	uc002bet.3,p.E45K|NM_001146341,p.E45K|ENST00000421388,p.E45K|uc021srm.1,p.E45K|ENST00000558647,p.E45K	protein_coding	uc021srm.1	nonsynonymous SNV	exon1	c.G133A	p.E45K	GGAYINESNDKGETALMVACITKHV	GGAYINESNDKGKTALMVACITKHV	1.0	7.0	unscreened	-	3998_15:79585759-79585759 G>A_GGAYINESNDKGKTALMVACITKHV
7:93125231-93125231 C>T	0.0	3998	MELANOMA	0.0009	-	-	-	CALCR	NM_001164737,p.G5R|uc003umv.2,p.G5R|ENST00000359558,p.G5R	protein_coding, nonsense_mediated_decay	uc003umv.2	nonsynonymous SNV	exon3	c.G13A	p.G5R	MQFSGEKISGQRDLQKS	MQFSREKISGQRDLQKS	1.0	4.0	unscreened	-	3998_7:93125231-93125231 C>T_MQFSREKISGQRDLQKS
7:101196607-101196607 G>A	0.0	3998	MELANOMA	-	-	-	-	COL26A1	uc003uyo.1,p.G344S|ENST00000313669,p.G344S	retained_intron, protein_coding, polymorphic_pseudogene	uc003uyo.1	nonsynonymous SNV	exon11	c.G1030A	p.G344S	GLAGERGTVGPSGEPGVKGEEGEKA	GLAGERGTVGPSSEPGVKGEEGEKA	1.0	3.0	unscreened	-	3998_7:101196607-101196607 G>A_GLAGERGTVGPSSEPGVKGEEGEKA
1:92642498-92642498 G>A	0.0	3998	MELANOMA	-	-	-	-	KIAA1107	uc010otd.2,p.G145E|uc001dop.3,p.G70E|ENST00000370378,p.G145E|NM_015237,p.G145E|ENST00000409154,p.G200E	protein_coding	uc010otd.2	nonsynonymous SNV	exon5	c.G434A	p.G145E	SYLSTNKKMKSDGLGASGHSSSTNR	SYLSTNKKMKSDELGASGHSSSTNR	4.0	5.0	unscreened	-	3998_1:92642498-92642498 G>A_SYLSTNKKMKSDELGASGHSSSTNR
4:42895383-42895383 G>A	0.0	3998	MELANOMA	-	-	-	-	GRXCR1	NM_001080476,p.E34K|uc003gwt.3,p.E34K|ENST00000399770,p.E34K	protein_coding	uc003gwt.3	nonsynonymous SNV	exon1	c.G100A	p.E34K	SSHSGRVLKEVYEDGQPSGSLDSEC	SSHSGRVLKEVYKDGQPSGSLDSEC	1.0	3.0	unscreened	-	3998_4:42895383-42895383 G>A_SSHSGRVLKEVYKDGQPSGSLDSEC
19:375778-375778 G>A	0.0	3998	MELANOMA	-	-	-	-	THEG	NM_199202,p.P65S|ENST00000342640,p.P65S|uc002lom.3,p.P65S|NM_016585,p.P65S|uc002lol.3,p.P65S|ENST00000346878,p.P65S	retained_intron, protein_coding	uc002lom.3	nonsynonymous SNV	exon1	c.C193T	p.P65S	AELGPEDPEEELPPEEVAGEEFPET	AELGPEDPEEELSPEEVAGEEFPET	1.0	5.0	unscreened	-	3998_19:375778-375778 G>A_AELGPEDPEEELSPEEVAGEEFPET
5:140589140-140589140 C>T	0.0	3998	MELANOMA	-	-	-	-	PCDHB12	NM_018932,p.P221S|uc003liz.3,p.P221S|ENST00000239450,p.P221S	protein_coding	uc003liz.3	nonsynonymous SNV	exon1	c.C661T	p.P221S	SFILTALDGGSPPRSGTALVRVVVV	SFILTALDGGSPSRSGTALVRVVVV	2.0	6.0	unscreened	-	3998_5:140589140-140589140 C>T_SFILTALDGGSPSRSGTALVRVVVV
1:248309383-248309383 G>A	0.0	3998	MELANOMA	-	-	-	-	OR2M5	ENST00000366476,p.E312K|NM_001004690,p.E312K|uc010pze.2,p.E312K	protein_coding	uc010pze.2	nonsynonymous SNV	exon1	c.G934A	p.E312K	ALRKVLGKGKCGE	ALRKVLGKGKCGK	1.0	2.0	unscreened	-	3998_1:248309383-248309383 G>A_ALRKVLGKGKCGK
7:143048838-143048838 C>T	0.0	3998	MELANOMA	-	-	-	-	CLCN1	uc003wcr.1,p.A916V|ENST00000343257,p.A916V|uc011ktc.1,p.A528V|NM_000083,p.A916V	protein_coding, processed_transcript, nonsense_mediated_decay	uc011ktc.1	nonsynonymous SNV	exon22	c.C1583T	p.A528V	AENWNLPEDRPGATGTGDVIAASPE	AENWNLPEDRPGVTGTGDVIAASPE	1.0	4.0	unscreened	-	3998_7:143048838-143048838 C>T_AENWNLPEDRPGVTGTGDVIAASPE
8:22138911-22138911 G>A	0.0	3998	MELANOMA	-	-	-	-	PIWIL2	ENST00000521356,p.G103D|uc003xbn.2,p.G103D|NM_001135721,p.G103D|uc010ltv.2,p.G103D|ENST00000454009,p.G103D|NM_018068,p.G103D|ENST00000356766,p.G103D|uc011kzf.1,p.G103D	retained_intron, protein_coding	uc011kzf.1	nonsynonymous SNV	exon4	c.G308A	p.G103D	EMLPSGRGILGRGLSANLVRKDREE	EMLPSGRGILGRDLSANLVRKDREE	1.0	5.0	unscreened	-	3998_8:22138911-22138911 G>A_EMLPSGRGILGRDLSANLVRKDREE
12:6936089-6936089 G>A	0.0	3998	MELANOMA	-	-	-	-	GPR162	NM_014449,p.R212Q|ENST00000311268,p.R496Q|ENST00000428545,p.R212Q|uc009zfd.1,p.R192Q|NM_019858,p.R496Q|uc001qqw.1,p.R496Q|ENST00000382315,p.R192Q|uc001qqx.1,p.R212Q	retained_intron, protein_coding, processed_transcript	uc009zfd.1	nonsynonymous SNV	exon4	c.G575A	p.R192Q	ESGVLGSGGGPPRGPGFFREEITTF	ESGVLGSGGGPPQGPGFFREEITTF	3.0	6.0	unscreened	-	3998_12:6936089-6936089 G>A_ESGVLGSGGGPPQGPGFFREEITTF
1:240072063-240072063 G>A	0.0	3998	MELANOMA	-	-	-	-	CHRM3	uc001hyp.3,p.A438T|ENST00000255380,p.A438T|uc021plc.1,p.A438T|NM_000740,p.A438T	protein_coding, processed_transcript	uc021plc.1	nonsynonymous SNV	exon1	c.G1312A	p.A438T	KLPIQLESAVDTAKTSDVNSSVGKS	KLPIQLESAVDTTKTSDVNSSVGKS	1.0	5.0	unscreened	-	3998_1:240072063-240072063 G>A_KLPIQLESAVDTTKTSDVNSSVGKS
1:152283689-152283689 G>C	0.0	3998	MELANOMA	-	-	-	-	FLG	NM_002016,p.Q1225E|uc001ezu.1,p.Q1225E|ENST00000368799,p.Q1225E	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.C3673G	p.Q1225E	SRSASRQTRKDKQSGDGSRHSGSRH	SRSASRQTRKDKESGDGSRHSGSRH	1.0	6.0	unscreened	-	3998_1:152283689-152283689 G>C_SRSASRQTRKDKESGDGSRHSGSRH
19:9086414-9086414 C>T	0.0	3998	MELANOMA	-	-	-	2	MUC16	NM_024690,p.G1801R|uc002mkp.3,p.G1801R|ENST00000397910,p.G1801R	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.G5401A	p.G1801R	ESSSATLMSTALGSTENTGKEKLRT	ESSSATLMSTALRSTENTGKEKLRT	1.0	4.0	unscreened	-	3998_19:9086414-9086414 C>T_ESSSATLMSTALRSTENTGKEKLRT
8:68942825-68942825 G>A	0.0	3998	MELANOMA	-	-	ID=COSM229754,COSM229755;OCCURENCE=1(skin)	1	PREX2	ENST00000288368,p.E213K|NM_025170,p.E213K|uc003xxu.1,p.E213K|uc011lez.1,p.E148K|NM_024870,p.E213K|uc003xxv.1,p.E213K	protein_coding, processed_transcript	uc011lez.1	nonsynonymous SNV	exon4	c.G442A	p.E148K	LQAMKAVCSNINEAKRQMEKLEVLE	LQAMKAVCSNINKAKRQMEKLEVLE	3.0	5.0	unscreened	-	3998_8:68942825-68942825 G>A_LQAMKAVCSNINKAKRQMEKLEVLE
1:100715372-100715372 G>A	1.0	4000	MELANOMA	-	-	-	-	DBT	ENST00000370131,p.A2V|uc021oqo.1,p.A2V|uc001dta.3,p.A2V|NM_001918,p.A2V|ENST00000370132,p.A2V	protein_coding	uc021oqo.1	nonsynonymous SNV	exon1	c.C5T	p.A2V	MAAVRMLRTWSRNA	MVAVRMLRTWSRNA	7.0	9.0	CD8	-	4000_1:100715372-100715372 G>A_MVAVRMLRTWSRNA
2:157427713-157427713 C>T	1.0	4000	MELANOMA	-	-	-	-	GPD2	ENST00000409674,p.A559V|ENST00000409861,p.A559V|uc002tzd.4,p.A559V|uc002tzf.4,p.A559V|NM_000408,p.A559V|NM_001083112,p.A559V|ENST00000409125,p.A332V|uc010zch.2,p.A332V|ENST00000310454,p.A559V|ENST00000438166,p.A559V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zch.2	nonsynonymous SNV	exon9	c.C995T	p.A332V	TAVDMISRRTRLAFLNVQAAEEALP	TAVDMISRRTRLVFLNVQAAEEALP	9.0	9.0	CD8	-	4000_2:157427713-157427713 C>T_TAVDMISRRTRLVFLNVQAAEEALP
7:38534086-38534086 C>T	1.0	4000	MELANOMA	-	-	-	-	AMPH	uc003tgu.3,p.E83K|ENST00000428293,p.E83K|NM_139316,p.E83K|ENST00000325590,p.E83K|uc003tgv.3,p.E83K|NM_001635,p.E83K|ENST00000356264,p.E83K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003tgv.3	nonsynonymous SNV	exon4	c.G247A	p.E83K	QEASMKLTESLHEVYEPDWYGREDV	QEASMKLTESLHKVYEPDWYGREDV	6.0	8.0	CD8	-	4000_7:38534086-38534086 C>T_QEASMKLTESLHKVYEPDWYGREDV
6:143090831-143090831 G>A	1.0	4000	MELANOMA	-	-	-	-	HIVEP2	ENST00000012134,p.P1682L|NM_006734,p.P1682L|ENST00000367603,p.P1682L|uc003qjd.3,p.P1682L|ENST00000367604,p.P1682L	protein_coding, processed_transcript	uc003qjd.3	nonsynonymous SNV	exon5	c.C5045T	p.P1682L	YASWCISSCNPNPSGLNTKTTLALL	YASWCISSCNPNLSGLNTKTTLALL	7.0	4.0	CD8	-	4000_6:143090831-143090831 G>A_YASWCISSCNPNLSGLNTKTTLALL
2:75745199-75745199 G>A	1.0	4000	MELANOMA	-	-	-	-	EVA1A	ENST00000452003,p.A23V|NM_001135032,p.A23V|ENST00000233712,p.A23V|uc002sni.2,p.A23V|ENST00000393913,p.A23V|uc002snk.1,p.A23V|ENST00000410071,p.A23V|NM_032181,p.A23V|ENST00000410113,p.A23V|ENST00000432649,p.A23V	protein_coding, processed_transcript	uc002snk.1	nonsynonymous SNV	exon3	c.C68T	p.A23V	HVEMALLSNILAAYSFVSENPERAA	HVEMALLSNILAVYSFVSENPERAA	9.0	2.0	-	-	4000_2:75745199-75745199 G>A_HVEMALLSNILAVYSFVSENPERAA
17:80356167-80356167 G>A	1.0	4000	MELANOMA	-	-	-	-	OGFOD3	NM_024648,p.S243L|uc002ket.2,p.S243L|ENST00000313056,p.S243L|uc002keu.2,p.S243L|NM_175902,p.S243L|ENST00000329197,p.S243L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002keu.2	nonsynonymous SNV	exon8	c.C728T	p.S243L	VDKVTYGSFDYTSLLYLSNYLEDFG	VDKVTYGSFDYTLLLYLSNYLEDFG	7.0	7.0	-	-	4000_17:80356167-80356167 G>A_VDKVTYGSFDYTLLLYLSNYLEDFG
1:46032674-46032674 A>C	1.0	4000	MELANOMA	-	-	-	-	AKR1A1	uc001coe.3,p.H113P|NM_001202414,p.H113P|NM_001202413,p.H113P|ENST00000372070,p.H113P|ENST00000351829,p.H113P|NM_153326,p.H113P|uc021omx.1,p.H113P|uc021omy.1,p.H113P|NM_006066,p.H113P|ENST00000434299,p.H113P|uc001cod.3,p.H113P	protein_coding, processed_transcript	uc021omy.1	nonsynonymous SNV	exon5	c.A338C	p.H113P	DLQLEYLDLYLMHWPYAFERGDNPF	DLQLEYLDLYLMPWPYAFERGDNPF	10.0	5.0	-	-	4000_1:46032674-46032674 A>C_DLQLEYLDLYLMPWPYAFERGDNPF
11:17141451-17141451 G>A	1.0	4000	MELANOMA	-	-	-	-	PIK3C2A	ENST00000265970,p.P910S|NM_002645,p.P910S|ENST00000540361,p.P530S|uc001mmq.4,p.P910S|uc010rcw.2,p.P530S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010rcw.2	nonsynonymous SNV	exon15	c.C1588T	p.P530S	KRYYCFKHPNCLPKILASAPNWKWV	KRYYCFKHPNCLSKILASAPNWKWV	10.0	6.0	-	-	4000_11:17141451-17141451 G>A_KRYYCFKHPNCLSKILASAPNWKWV
19:10394814-10394814 C>T	1.0	4000	MELANOMA	-	-	-	-	ICAM1	uc010xle.1,p.A26V|ENST00000423829,p.A26V	retained_intron, protein_coding, processed_transcript	uc010xle.1	nonsynonymous SNV	exon2	c.C77T	p.A26V	LVLLGALFPVSEAQVHLALGDQRLN	LVLLGALFPVSEVQVHLALGDQRLN	10.0	5.0	-	-	4000_19:10394814-10394814 C>T_LVLLGALFPVSEVQVHLALGDQRLN
3:178927983-178927983 C>T	1.0	4000	MELANOMA	-	-	-	1	PIK3CA	uc003fjk.3,p.P421S|NM_006218,p.P421S|ENST00000263967,p.P421S	retained_intron, protein_coding	uc003fjk.3	nonsynonymous SNV	exon8	c.C1261T	p.P421S	VKGRKGAKEEHCPLAWGNINLFDYT	VKGRKGAKEEHCSLAWGNINLFDYT	9.0	9.0	-	-	4000_3:178927983-178927983 C>T_VKGRKGAKEEHCSLAWGNINLFDYT
12:112926909-112926909 A>T	1.0	4000	MELANOMA	-	-	ID=COSM1318059;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(central_nervous_system)	1	PTPN11	NM_002834,p.Q510L|ENST00000351677,p.Q510L|uc001ttx.3,p.Q510L	protein_coding, processed_transcript	uc001ttx.3	nonsynonymous SNV	exon13	c.A1529T	p.Q510L	RSQRSGMVQTEAQYRFIYMAVQHYI	RSQRSGMVQTEALYRFIYMAVQHYI	9.0	10.0	-	-	4000_12:112926909-112926909 A>T_RSQRSGMVQTEALYRFIYMAVQHYI
15:90764695-90764695 C>T	1.0	4000	MELANOMA	-	-	-	-	SEMA4B	uc002bpa.3,p.S69F|uc010uqd.2,p.S69F|NM_020210,p.S231F|ENST00000411539,p.S231F|NM_198925,p.S231F|ENST00000379122,p.S226F|uc002boz.3,p.S231F|uc002boy.3,p.S231F|ENST00000332496,p.S231F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uqd.2	nonsynonymous SNV	exon7	c.C206T	p.S69F	RSQSLRPTKTESSLNWLQDPAFVAS	RSQSLRPTKTESFLNWLQDPAFVAS	8.0	9.0	-	-	4000_15:90764695-90764695 C>T_RSQSLRPTKTESFLNWLQDPAFVAS
15:25924663-25924663 G>A	1.0	4000	MELANOMA	-	-	-	-	ATP10A	NM_024490,p.S1442F|ENST00000356865,p.S1442F|uc010ayu.3,p.S1442F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ayu.3	nonsynonymous SNV	exon21	c.C4325T	p.S1442F	FSLPTFSLLNWISSWSLVSRLGSVL	FSLPTFSLLNWIFSWSLVSRLGSVL	7.0	7.0	-	-	4000_15:25924663-25924663 G>A_FSLPTFSLLNWIFSWSLVSRLGSVL
19:11456052-11456052 C>T	1.0	4000	MELANOMA	-	-	-	-	TMEM205	ENST00000447337,p.G47E|ENST00000590482,p.G47E|ENST00000590788,p.G47E|ENST00000593256,p.G47E|NM_198536,p.G47E|uc002mra.2,p.G47E|NM_001145416,p.G47E|uc002mqz.2,p.G47E|NM_033408,p.G47E|uc002mrb.2,p.G47E|ENST00000589555,p.G47E|ENST00000591677,p.G47E|ENST00000588560,p.G47E|ENST00000586956,p.G47E|ENST00000354882,p.G47E|ENST00000586590,p.G47E|ENST00000587948,p.G47E	retained_intron, protein_coding	uc002mrb.2	nonsynonymous SNV	exon3	c.G140A	p.G47E	FLLFRSLPRHTFGLVQSKLFPFYFH	FLLFRSLPRHTFELVQSKLFPFYFH	9.0	8.0	-	-	4000_19:11456052-11456052 C>T_FLLFRSLPRHTFELVQSKLFPFYFH
9:92007373-92007373 G>A	1.0	4000	MELANOMA	-	-	-	-	SEMA4D	NM_001142287,p.P196L|uc004aqo.1,p.P196L|ENST00000343780,p.P196L|uc004aqp.1,p.P196L|uc011ltm.1,p.P196L|NM_006378,p.P196L|ENST00000438547,p.P196L|ENST00000339861,p.P196L|ENST00000537934,p.P196L|ENST00000450295,p.P196L|ENST00000420987,p.P196L|ENST00000429836,p.P196L|ENST00000455551,p.P196L|ENST00000422704,p.P196L|ENST00000356444,p.P196L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ltm.1	nonsynonymous SNV	exon10	c.C587T	p.P196L	SEPIISRNSSHSPLRTEYAIPWLNE	SEPIISRNSSHSLLRTEYAIPWLNE	10.0	8.0	-	-	4000_9:92007373-92007373 G>A_SEPIISRNSSHSLLRTEYAIPWLNE
5:36168527-36168527 C>T	1.0	4000	MELANOMA	-	-	-	-	SKP2	uc003jkd.3,p.R217W|NM_032637,p.R217W|ENST00000274254,p.R217W|NM_005983,p.R217W|ENST00000274255,p.R217W|uc003jkc.2,p.R217W	protein_coding, nonsense_mediated_decay	uc003jkd.3	nonsynonymous SNV	exon5	c.C649T	p.R217W	CSKLQNLSLEGLRLSDPIVNTLAKN	CSKLQNLSLEGLWLSDPIVNTLAKN	7.0	6.0	-	-	4000_5:36168527-36168527 C>T_CSKLQNLSLEGLWLSDPIVNTLAKN
19:39380533-39380533 G>A	1.0	4000	MELANOMA	-	-	-	-	SIRT2	ENST00000392081,p.P76S|NM_012237,p.P113S|uc010egi.2,p.P76S|uc002ojv.2,p.P111S|ENST00000381766,p.P76S|ENST00000414941,p.P76S|uc002ojs.2,p.P93S|ENST00000249396,p.P113S|NM_030593,p.P76S|uc002ojt.2,p.P113S|ENST00000407552,p.P76S|NM_001193286,p.P76S|ENST00000420440,p.P76S|uc010egh.2,p.P76S|uc002oju.2,p.P76S|ENST00000358931,p.P113S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010egi.2	nonsynonymous SNV	exon4	c.C226T	p.P76S	TGLYDNLEKYHLPYPEAIFEISYFK	TGLYDNLEKYHLSYPEAIFEISYFK	8.0	8.0	-	-	4000_19:39380533-39380533 G>A_TGLYDNLEKYHLSYPEAIFEISYFK
20:34067959-34067959 C>T	1.0	4000	MELANOMA	-	-	-	-	CEP250	ENST00000342580,p.R859W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000342580	nonsynonymous SNV	exon20	c.C2575T	p.R859W	QKAAHEKEVNQLREKWMQLETEKER	QKAAHEKEVNQLWEKWMQLETEKER	8.0	3.0	-	-	4000_20:34067959-34067959 C>T_QKAAHEKEVNQLWEKWMQLETEKER
12:58109709-58109709 C>T	1.0	4000	MELANOMA	-	-	-	-	OS9	ENST00000389142,p.S249F|NM_001261420,p.S249F|ENST00000439210,p.S190F|uc001spj.3,p.S249F|uc001spm.3,p.S249F|uc001spn.3,p.S249F|ENST00000257966,p.S249F|uc031qia.1,p.S197F|NM_001261423,p.S190F|ENST00000315970,p.S249F|NM_001261422,p.S197F|ENST00000552285,p.S249F|uc001spk.3,p.S249F|NM_001017958,p.S249F|uc010sry.2,p.S216F|NM_001261421,p.S216F|ENST00000551035,p.S216F|uc010srz.2,p.S190F|uc001spl.3,p.S249F|NM_001017957,p.S249F|ENST00000389146,p.S249F|NM_006812,p.S249F|NM_001017956,p.S249F|ENST00000435406,p.S197F	retained_intron, protein_coding, nonsense_mediated_decay	uc031qia.1	nonsynonymous SNV	exon5	c.C590T	p.S197F	PSAAPQAILCHPSLQPEEYMAYVQR	PSAAPQAILCHPFLQPEEYMAYVQR	10.0	6.0	-	-	4000_12:58109709-58109709 C>T_PSAAPQAILCHPFLQPEEYMAYVQR
14:102469176-102469176 C>T	1.0	4000	MELANOMA	-	-	-	-	DYNC1H1	uc001yks.2,p.P1586L|NM_001376,p.P1586L|ENST00000360184,p.P1586L	retained_intron, protein_coding, processed_transcript	uc001yks.2	nonsynonymous SNV	exon23	c.C4757T	p.P1586L	EFLALMKKVSKSPLVMDVLNIQGVQ	EFLALMKKVSKSLLVMDVLNIQGVQ	10.0	7.0	-	-	4000_14:102469176-102469176 C>T_EFLALMKKVSKSLLVMDVLNIQGVQ
6:102074435-102074435 C>T	1.0	4000	MELANOMA	-	-	-	-	GRIK2	NM_001166247,p.S155L|ENST00000413795,p.S155L|uc021zdk.1,p.S155L|uc021zdj.1,p.S155L|uc003pqn.3,p.S155L|NM_021956,p.S155L|ENST00000358361,p.S155L|ENST00000421544,p.S155L|ENST00000369138,p.S155L|uc003pqp.4,p.S155L|ENST00000369134,p.S106L|ENST00000318991,p.S155L|uc010kcw.3,p.S155L|NM_175768,p.S155L|ENST00000369137,p.S155L|uc003pqo.4,p.S155L	retained_intron, protein_coding	uc021zdk.1	nonsynonymous SNV	exon3	c.C464T	p.S155L	DSFYVSLYPDFSSLSRAILDLVQFF	DSFYVSLYPDFSLLSRAILDLVQFF	7.0	5.0	-	-	4000_6:102074435-102074435 C>T_DSFYVSLYPDFSLLSRAILDLVQFF
5:36684084-36684084 G>A	0.0	4000	MELANOMA	-	-	ID=COSM3429420;OCCURENCE=1(large_intestine)	-	SLC1A3	NM_001289940,p.A358T|uc011cox.2,p.A363T|NM_004172,p.A470T|ENST00000265113,p.A470T|NM_001289939,p.A424T|uc003jkj.4,p.A470T	retained_intron, protein_coding, processed_transcript	uc011cox.2	nonsynonymous SNV	exon8	c.G1087A	p.A363T	VGLPTDDITLIIAVDWFLDRLRTTT	VGLPTDDITLIITVDWFLDRLRTTT	10.0	8.0	unscreened	-	4000_5:36684084-36684084 G>A_VGLPTDDITLIITVDWFLDRLRTTT
14:21826148-21826148 G>A	1.0	4000	MELANOMA	-	-	-	-	SUPT16H	ENST00000216297,p.P810S|NM_007192,p.P810S|uc001wao.2,p.P810S	retained_intron, protein_coding, nonsense_mediated_decay	uc001wao.2	nonsynonymous SNV	exon21	c.C2428T	p.P810S	EVPFRDLGFNGAPYRSTCLLQPTSS	EVPFRDLGFNGASYRSTCLLQPTSS	9.0	6.0	-	-	4000_14:21826148-21826148 G>A_EVPFRDLGFNGASYRSTCLLQPTSS
7:100179765-100179765 G>A	1.0	4000	MELANOMA	-	-	-	-	LRCH4	NM_002319,p.P131S|uc003uvj.3,p.P131S|NM_001289934,p.P131S|ENST00000310300,p.P131S	retained_intron, protein_coding	uc003uvj.3	nonsynonymous SNV	exon3	c.C391T	p.P131S	LNLSRNQLSLLPPYICQLPLRVLIV	LNLSRNQLSLLPSYICQLPLRVLIV	8.0	8.0	-	-	4000_7:100179765-100179765 G>A_LNLSRNQLSLLPSYICQLPLRVLIV
19:10394814-10394814 C>T	1.0	4000	MELANOMA	-	-	-	-	ICAM1	NM_000201,p.A248V|ENST00000264832,p.A248V|uc002mnq.2,p.A248V	retained_intron, protein_coding, processed_transcript	uc002mnq.2	nonsynonymous SNV	exon4	c.C743T	p.A248V	VCSLDGLFPVSEAQVHLALGDQRLN	VCSLDGLFPVSEVQVHLALGDQRLN	10.0	5.0	-	-	4000_19:10394814-10394814 C>T_VCSLDGLFPVSEVQVHLALGDQRLN
10:45478087-45478087 T>C	1.0	4000	MELANOMA	-	-	-	-	RASSF4	uc001jbq.3,p.C14R	retained_intron, protein_coding, processed_transcript	uc001jbq.3	nonsynonymous SNV	exon4	c.T40C	p.C14R	TGSRCTSPPPHGCPDGLAALWPLEE	TGSRCTSPPPHGRPDGLAALWPLEE	9.0	10.0	unscreened	-	4000_10:45478087-45478087 T>C_TGSRCTSPPPHGRPDGLAALWPLEE
15:86182612-86182612 G>A	1.0	4000	MELANOMA	-	-	ID=COSM1708503,COSM231735;OCCURENCE=2(skin)	-	AKAP13	ENST00000361243,p.R1390Q|uc002blv.2,p.R1390Q|NM_006738,p.R1390Q|NM_007200,p.R1390Q|uc002blt.2,p.R1390Q|uc002blu.2,p.R1390Q|ENST00000559362,p.R1390Q|uc010bne.1,p.R43Q|ENST00000394518,p.R1390Q	retained_intron, protein_coding, processed_transcript	uc010bne.1	nonsynonymous SNV	exon3	c.G128A	p.R43Q	KMKQGPMTQAINRENWCTIEPCPDA	KMKQGPMTQAINQENWCTIEPCPDA	10.0	7.0	-	-	4000_15:86182612-86182612 G>A_KMKQGPMTQAINQENWCTIEPCPDA
17:49272694-49272694 C>T	1.0	4000	MELANOMA	-	-	-	-	MBTD1	ENST00000586178,p.G418E|ENST00000415868,p.G418E|NM_017643,p.G418E|uc002itr.4,p.G418E|uc002itp.4,p.G254E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002itr.4	nonsynonymous SNV	exon13	c.G1253A	p.G418E	IRKVLADGFLMIGIDGSEAADGSDW	IRKVLADGFLMIEIDGSEAADGSDW	7.0	7.0	-	-	4000_17:49272694-49272694 C>T_IRKVLADGFLMIEIDGSEAADGSDW
7:17937050-17937050 C>A	1.0	4000	MELANOMA	-	-	-	-	SNX13	uc003stw.1,p.G11V|ENST00000409604,p.G11V|uc003sty.3,p.G11V|ENST00000409076,p.G11V|ENST00000409389,p.G11V|uc003stv.3,p.G11V|ENST00000444712,p.G11V|NM_015132,p.G11V|ENST00000428135,p.G11V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003sty.3	nonsynonymous SNV	exon2	c.G32T	p.G11V	MLTEASLSIWGWGSLGIVLFLIT	MLTEASLSIWVWGSLGIVLFLIT	9.0	1.0	-	-	4000_7:17937050-17937050 C>A_MLTEASLSIWVWGSLGIVLFLIT
2:198950193-198950193 C>T	1.0	4000	MELANOMA	-	-	-	-	PLCL1	NM_006226,p.S651F|uc002uuv.4,p.S572F|uc010fsp.3,p.S651F|ENST00000428675,p.S651F|ENST00000487695,p.S577F|ENST00000437704,p.S553F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010fsp.3	nonsynonymous SNV	exon2	c.C1952T	p.S651F	LSRIYPSAMRIDSSNLNPQDFWNCG	LSRIYPSAMRIDFSNLNPQDFWNCG	7.0	5.0	-	-	4000_2:198950193-198950193 C>T_LSRIYPSAMRIDFSNLNPQDFWNCG
22:24953727-24953727 C>T	1.0	4000	MELANOMA	-	-	-	-	SNRPD3	uc011aju.2,p.R29W|uc003aam.1,p.R29W|ENST00000404603,p.R29W|ENST00000439775,p.R29W|ENST00000402849,p.R29W|ENST00000215829,p.R29W|NM_004175,p.R29W|NM_001278656,p.R29W	retained_intron, protein_coding, nonsense_mediated_decay	uc011aju.2	nonsynonymous SNV	exon2	c.C85T	p.R29W	IVTCETNTGEVYRGKLIEAEDNMNC	IVTCETNTGEVYWGKLIEAEDNMNC	9.0	5.0	-	-	4000_22:24953727-24953727 C>T_IVTCETNTGEVYWGKLIEAEDNMNC
10:114164518-114164518 C>T	1.0	4000	MELANOMA	-	-	ID=COSM1686138;OCCURENCE=2(skin)	-	ACSL5	uc001kzu.3,p.S185L|uc001kzs.3,p.S129L|ENST00000354655,p.S129L|ENST00000433418,p.S129L|NM_203379,p.S129L|NM_016234,p.S185L|uc009xxz.3,p.S129L|uc001kzt.3,p.S129L|ENST00000356116,p.S185L|ENST00000393081,p.S129L|ENST00000354273,p.S129L|NM_203380,p.S129L	protein_coding, processed_transcript	uc009xxz.3	nonsynonymous SNV	exon4	c.C386T	p.S129L	YLGSCLLHKGYKSSPDQFVGIFAQN	YLGSCLLHKGYKLSPDQFVGIFAQN	8.0	6.0	-	-	4000_10:114164518-114164518 C>T_YLGSCLLHKGYKLSPDQFVGIFAQN
7:122221268-122221268 C>T	1.0	4000	MELANOMA	-	-	-	-	CADPS2	NM_001009571,p.G434R|uc022akq.1,p.G434R|NM_001167940,p.G434R|uc003vkg.4,p.G134R|uc022akp.1,p.G434R|uc022akr.1,p.G434R|ENST00000449022,p.G434R|ENST00000334010,p.G434R|ENST00000313070,p.G434R|uc010lkq.3,p.G434R|ENST00000412584,p.G434R|NM_017954,p.G434R	protein_coding, processed_transcript	uc022akr.1	nonsynonymous SNV	exon7	c.G1300A	p.G434R	PVVKVKLFTESTGVLALEDKELGRV	PVVKVKLFTESTRVLALEDKELGRV	6.0	2.0	-	-	4000_7:122221268-122221268 C>T_PVVKVKLFTESTRVLALEDKELGRV
15:43668777-43668777 C>T	1.0	4000	MELANOMA	-	-	-	-	TUBGCP4	NM_014444,p.S95F|ENST00000260383,p.S95F|ENST00000564079,p.S95F|uc001zrn.3,p.S95F|NM_001286414,p.S95F|uc001zro.3,p.S95F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zro.3	nonsynonymous SNV	exon3	c.C284T	p.S95F	GIYLRAFCTGLDSVLQPYRQALLDL	GIYLRAFCTGLDFVLQPYRQALLDL	7.0	10.0	-	-	4000_15:43668777-43668777 C>T_GIYLRAFCTGLDFVLQPYRQALLDL
6:97609920-97609920 G>A	1.0	4000	MELANOMA	-	-	-	-	MMS22L	NM_198468,p.P1115S|uc011eaf.2,p.P1075S|ENST00000275053,p.P1115S|uc003ppb.3,p.P1115S|ENST00000369251,p.P1075S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011eaf.2	nonsynonymous SNV	exon20	c.C3223T	p.P1075S	TNTDIYEVELLLPGILKCLVLVSEP	TNTDIYEVELLLSGILKCLVLVSEP	7.0	5.0	-	-	4000_6:97609920-97609920 G>A_TNTDIYEVELLLSGILKCLVLVSEP
X:153222794-153222794 G>A	1.0	4000	MELANOMA	-	-	-	-	HCFC1	ENST00000369984,p.S775L|ENST00000310441,p.S775L|uc004fjp.3,p.S775L|ENST00000354233,p.S706L|NM_005334,p.S775L	protein_coding, processed_transcript	uc004fjp.3	nonsynonymous SNV	exon13	c.C2324T	p.S775L	PGTTTIIKTIPMSAIITQAGATGVT	PGTTTIIKTIPMLAIITQAGATGVT	9.0	8.0	-	-	4000_X:153222794-153222794 G>A_PGTTTIIKTIPMLAIITQAGATGVT
13:33110572-33110572 G>A	1.0	4000	MELANOMA	-	-	-	-	N4BP2L2	uc001uuk.4,p.P198L|ENST00000446957,p.P198L|ENST00000267068,p.P198L|ENST00000505213,p.P198L|NM_014887,p.P198L	retained_intron, protein_coding, processed_transcript	uc001uuk.4	nonsynonymous SNV	exon2	c.C593T	p.P198L	KDGFENSCKESEPSQEQFVPFYEGH	KDGFENSCKESELSQEQFVPFYEGH	10.0	1.0	-	-	4000_13:33110572-33110572 G>A_KDGFENSCKESELSQEQFVPFYEGH
3:430999-430999 G>A	1.0	4000	MELANOMA	-	-	-	-	CHL1	NM_006614,p.G771E|ENST00000397491,p.G755E|uc003bot.3,p.G771E|uc003bou.3,p.G755E|ENST00000256509,p.G771E|NM_001253387,p.G755E|NM_001253388,p.G771E|uc003bow.2,p.G755E|uc011asi.2,p.G771E	protein_coding, processed_transcript, nonsense_mediated_decay	uc011asi.2	nonsynonymous SNV	exon18	c.G2312A	p.G771E	PGLEYRVTWKPQGAPVEWEEETVTN	PGLEYRVTWKPQEAPVEWEEETVTN	7.0	5.0	-	-	4000_3:430999-430999 G>A_PGLEYRVTWKPQEAPVEWEEETVTN
19:52447512-52447512 C>T	1.0	4000	MELANOMA	-	-	-	-	ZNF613	NM_001031721,p.H126Y|uc002pya.2,p.H90Y|uc002pxz.2,p.H126Y|ENST00000391794,p.H90Y|NM_024840,p.H90Y|ENST00000293471,p.H126Y	protein_coding, processed_transcript	uc002pya.2	nonsynonymous SNV	exon6	c.C268T	p.H90Y	HQRKSDFPLRQNHDTFDLHGKILKS	HQRKSDFPLRQNYDTFDLHGKILKS	6.0	3.0	-	-	4000_19:52447512-52447512 C>T_HQRKSDFPLRQNYDTFDLHGKILKS
15:65771352-65771352 G>A	1.0	4000	MELANOMA	-	-	-	-	DPP8	uc002aox.3,p.P441L|ENST00000341861,p.P457L|ENST00000358939,p.P441L|ENST00000559233,p.P457L|ENST00000300141,p.P441L|uc002aoy.3,p.P457L|uc021soz.1,p.P441L|uc002aow.3,p.P457L|ENST00000321118,p.P457L|uc002aov.3,p.P457L|NM_197961,p.P457L|ENST00000321147,p.P457L|NM_130434,p.P441L|NM_017743,p.P441L|uc010bhj.3,p.P457L|ENST00000395652,p.P457L|NM_197960,p.P457L|uc002aoz.3,p.P441L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021soz.1	nonsynonymous SNV	exon11	c.C1322T	p.P441L	IWINIHDIFHVFPQSHEEEIEFIFA	IWINIHDIFHVFLQSHEEEIEFIFA	9.0	9.0	-	-	4000_15:65771352-65771352 G>A_IWINIHDIFHVFLQSHEEEIEFIFA
7:100417235-100417235 G>A	1.0	4000	MELANOMA	-	-	-	-	EPHB4	uc003uwm.1,p.S321F|ENST00000360620,p.S414F|NM_004444,p.S414F|uc010lhj.1,p.S414F|uc011kkf.1,p.S414F|uc003uwn.1,p.S414F|ENST00000358173,p.S414F	retained_intron, protein_coding, processed_transcript	uc011kkf.1	nonsynonymous SNV	exon6	c.C1241T	p.S414F	YTFEVTALNGVSSLATGPVPFEPVN	YTFEVTALNGVSFLATGPVPFEPVN	8.0	6.0	-	-	4000_7:100417235-100417235 G>A_YTFEVTALNGVSFLATGPVPFEPVN
8:82583178-82583178 G>A	1.0	4000	MELANOMA	-	-	-	-	IMPA1	NM_001144878,p.H247Y|ENST00000449740,p.H247Y|ENST00000256108,p.H188Y|uc011lfq.1,p.H247Y|NM_005536,p.H188Y|uc003ych.2,p.H188Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lfq.1	nonsynonymous SNV	exon8	c.C739T	p.H247Y	LSNMEKLFCIPVHGIRSVGTAAVNM	LSNMEKLFCIPVYGIRSVGTAAVNM	9.0	2.0	-	-	4000_8:82583178-82583178 G>A_LSNMEKLFCIPVYGIRSVGTAAVNM
7:883269-883269 C>T	1.0	4000	MELANOMA	-	-	-	-	SUN1	uc010ksa.1,p.P278L|uc021zyl.1,p.P257L|ENST00000403868,p.P257L|ENST00000457378,p.P278L|NM_001171945,p.P278L|NM_001171946,p.P257L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zyl.1	nonsynonymous SNV	exon6	c.C770T	p.P257L	CLHYLSWRLKIIP	CLHYLSWRLKIIL	10.0	6.0	-	-	4000_7:883269-883269 C>T_CLHYLSWRLKIIL
4:141622714-141622714 G>A	1.0	4000	MELANOMA	-	-	-	-	TBC1D9	ENST00000442267,p.P62L|NM_015130,p.P62L|uc010ioj.3,p.P62L	retained_intron, protein_coding	uc010ioj.3	nonsynonymous SNV	exon2	c.C185T	p.P62L	LDVVLDSSARVAPYRILYQTPDSLV	LDVVLDSSARVALYRILYQTPDSLV	8.0	4.0	-	-	4000_4:141622714-141622714 G>A_LDVVLDSSARVALYRILYQTPDSLV
10:16866987-16866987 G>A	1.0	4000	MELANOMA	-	-	-	-	CUBN	ENST00000377833,p.T3620I|NM_001081,p.T3620I|uc001ioo.3,p.T3620I	protein_coding	uc001ioo.3	nonsynonymous SNV	exon67	c.C10859T	p.T3620I	ADYARRPSAFRLTWDS	ADYARRPSAFRLIWDS	7.0	6.0	-	-	4000_10:16866987-16866987 G>A_ADYARRPSAFRLIWDS
17:8789593-8789593 G>A	0.0	4000	MELANOMA	-	-	-	-	PIK3R5	NM_014308,p.S694F|NM_001251853,p.S308F|NM_001251852,p.S308F|NM_001142633,p.S694F|uc010coa.2,p.S308F|NM_001251855,p.S308F|NM_001251851,p.S308F|uc002glu.4,p.S308F|ENST00000581552,p.S694F|uc010cob.2,p.S308F|uc010vuz.2,p.S694F|uc002glt.3,p.S694F|ENST00000584803,p.S693F|uc021tqc.1,p.S308F|ENST00000447110,p.S694F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tqc.1	nonsynonymous SNV	exon14	c.C923T	p.S308F	ITGEKTTEIFIHSLELGHSAATRAI	ITGEKTTEIFIHFLELGHSAATRAI	7.0	2.0	unscreened	-	4000_17:8789593-8789593 G>A_ITGEKTTEIFIHFLELGHSAATRAI
4:39000451-39000451 G>A	0.0	4000	MELANOMA	-	-	-	-	TMEM156	ENST00000344606,p.S56F|uc003gto.3,p.S56F|ENST00000381938,p.S56F|NM_024943,p.S56F|uc010ifj.3,p.S56F	protein_coding, processed_transcript	uc010ifj.3	nonsynonymous SNV	exon2	c.C167T	p.S56F	SNFTYSLSSLNFSFVTFLQPVRETQ	SNFTYSLSSLNFFFVTFLQPVRETQ	6.0	8.0	unscreened	-	4000_4:39000451-39000451 G>A_SNFTYSLSSLNFFFVTFLQPVRETQ
2:11732916-11732916 C>T	0.0	4000	MELANOMA	-	-	-	-	GREB1	NM_014668,p.P454S|uc002rbo.1,p.P88S|uc002rbk.1,p.P454S|ENST00000432985,p.P88S|ENST00000234142,p.P454S|ENST00000381486,p.P454S	retained_intron, protein_coding	uc002rbo.1	nonsynonymous SNV	exon2	c.C262T	p.P88S	VYYLVQLAADQVPLMEDLEQIFLRS	VYYLVQLAADQVSLMEDLEQIFLRS	9.0	10.0	unscreened	-	4000_2:11732916-11732916 C>T_VYYLVQLAADQVSLMEDLEQIFLRS
6:102069868-102069868 G>A	1.0	4000	MELANOMA	0.0005	-	ID=COSM136559,COSM136558;OCCURENCE=1(skin)	-	GRIK2	NM_001166247,p.E54K|NM_021956,p.E54K|uc021zdj.1,p.E54K|ENST00000358361,p.E54K|ENST00000413795,p.E54K|ENST00000318991,p.E54K|uc003pqp.4,p.E54K|ENST00000369137,p.E54K|uc003pqo.4,p.E54K|ENST00000369138,p.E54K|uc003pqn.3,p.E54K|uc021zdk.1,p.E54K|NM_175768,p.E54K|uc010kcw.3,p.E54K|ENST00000421544,p.E54K	retained_intron, protein_coding	uc021zdk.1	nonsynonymous SNV	exon2	c.G160A	p.E54K	FEYVESGPMGAEELAFRFAVNTINR	FEYVESGPMGAEKLAFRFAVNTINR	7.0	7.0	-	-	4000_6:102069868-102069868 G>A_FEYVESGPMGAEKLAFRFAVNTINR
1:82409145-82409145 G>A	0.0	4000	MELANOMA	-	-	ID=COSM1344473,COSM1344474;OCCURENCE=1(large_intestine)	-	LPHN2	ENST00000271029,p.R297Q|uc001div.3,p.R297Q|ENST00000370723,p.R297Q|ENST00000370725,p.R297Q|NM_001297704,p.R297Q|ENST00000319517,p.R297Q|ENST00000370717,p.R297Q|NM_012302,p.R297Q|ENST00000394879,p.R297Q|uc009wcd.3,p.R297Q|ENST00000359929,p.R297Q|NM_001297706,p.R297Q|uc001diu.3,p.R297Q|ENST00000370715,p.R297Q|ENST00000370728,p.R297Q|ENST00000370721,p.R301Q|ENST00000335786,p.R297Q|uc001dit.4,p.R297Q|NM_001297705,p.R297Q|ENST00000370727,p.R297Q|ENST00000370730,p.R297Q|ENST00000370713,p.R297Q	protein_coding, processed_transcript	uc009wcd.3	nonsynonymous SNV	exon5	c.G890A	p.R297Q	MIVISQLNPYTLRFEATWETVYDKR	MIVISQLNPYTLQFEATWETVYDKR	6.0	6.0	unscreened	-	4000_1:82409145-82409145 G>A_MIVISQLNPYTLQFEATWETVYDKR
12:47629214-47629214 C>T	0.0	4000	MELANOMA	-	-	-	-	PCED1B	uc001rpn.3,p.S123F|ENST00000549500,p.S123F|ENST00000546455,p.S123F|NM_001281429,p.S123F|ENST00000549630,p.S123F|NM_138371,p.S123F|uc021qxi.1,p.S123F|ENST00000432328,p.S123F|uc001rpq.3,p.S123F	protein_coding	uc021qxi.1	nonsynonymous SNV	exon1	c.C368T	p.S123F	SGEHAPDLVIMNSCLWDISRYGPNS	SGEHAPDLVIMNFCLWDISRYGPNS	7.0	7.0	unscreened	-	4000_12:47629214-47629214 C>T_SGEHAPDLVIMNFCLWDISRYGPNS
13:113496614-113496614 G>A	1.0	4000	MELANOMA	-	-	-	-	ATP11A	NM_032189,p.G577E|ENST00000375630,p.G577E|uc001vsj.4,p.G577E|ENST00000487903,p.G577E|uc001vsm.1,p.G453E|ENST00000283558,p.G577E|NM_015205,p.G577E|ENST00000375645,p.G577E|uc001vsi.4,p.G577E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001vsm.1	nonsynonymous SNV	exon16	c.G1358A	p.G453E	KSATGEIYLFCKGADSSIFPRVIEG	KSATGEIYLFCKEADSSIFPRVIEG	9.0	9.0	-	-	4000_13:113496614-113496614 G>A_KSATGEIYLFCKEADSSIFPRVIEG
10:121429676-121429676 C>T	1.0	4000	MELANOMA	-	-	-	-	BAG3	uc001lel.3,p.S165F|NM_004281,p.S165F|uc001lem.3,p.S165F|ENST00000450186,p.S107F|ENST00000369085,p.S165F	protein_coding	uc001lem.3	nonsynonymous SNV	exon2	c.C494T	p.S165F	QVAAAAAAQPPASHGPERSQSPAAS	QVAAAAAAQPPAFHGPERSQSPAAS	7.0	3.0	-	-	4000_10:121429676-121429676 C>T_QVAAAAAAQPPAFHGPERSQSPAAS
16:89790044-89790044 T>C	1.0	4000	MELANOMA	-	-	-	-	ZNF276	ENST00000446326,p.L108P|ENST00000568064,p.L230P|uc002for.4,p.L108P|uc010ciq.3,p.L108P	retained_intron, protein_coding, nonsense_mediated_decay	uc010ciq.3	nonsynonymous SNV	exon4	c.T323C	p.L108P	PRPCPARMWPSLLRTATRWGPGRAS	PRPCPARMWPSLPRTATRWGPGRAS	8.0	3.0	-	-	4000_16:89790044-89790044 T>C_PRPCPARMWPSLPRTATRWGPGRAS
X:48767249-48767249 G>A	1.0	4000	MELANOMA	-	-	-	-	SLC35A2	NM_001032289,p.S39F|uc004dlp.1,p.S39F|NM_001042498,p.S39F|ENST00000376521,p.S39F|NM_001282647,p.S39F|ENST00000376512,p.S39F|NM_005660,p.S39F|ENST00000247138,p.S39F|uc004dlq.3,p.S39F|ENST00000445167,p.S39F|ENST00000376529,p.S39F|uc004dlo.1,p.S39F	protein_coding	uc004dlq.3	nonsynonymous SNV	exon2	c.C116T	p.S39F	TASAAHRRLKYISLAVLVVQNASLI	TASAAHRRLKYIFLAVLVVQNASLI	7.0	10.0	unscreened	-	4000_X:48767249-48767249 G>A_TASAAHRRLKYIFLAVLVVQNASLI
7:99796109-99796109 G>C	1.0	4000	MELANOMA	-	-	-	-	STAG3	uc010lgs.1,p.G207A|NM_012447,p.G419A|NM_001282718,p.G361A|NM_001282717,p.G419A|ENST00000426455,p.G419A|ENST00000394018,p.G361A|uc011kjk.1,p.G361A|ENST00000317296,p.G419A|uc003utx.1,p.G419A|NM_001282716,p.G419A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kjk.1	nonsynonymous SNV	exon11	c.G1082C	p.G361A	VRLLILILKNMEGVLTDADCESVYP	VRLLILILKNMEAVLTDADCESVYP	7.0	1.0	-	-	4000_7:99796109-99796109 G>C_VRLLILILKNMEAVLTDADCESVYP
15:86182612-86182612 G>A	1.0	4000	MELANOMA	-	-	ID=COSM1708503,COSM231735;OCCURENCE=2(skin)	-	AKAP13	uc031qtl.1,p.R30Q|NM_001270546,p.R30Q	retained_intron, protein_coding, processed_transcript	uc031qtl.1	nonsynonymous SNV	exon2	c.G89A	p.R30Q	DRTVDVVLLKINRENWCTIEPCPDA	DRTVDVVLLKINQENWCTIEPCPDA	10.0	7.0	-	-	4000_15:86182612-86182612 G>A_DRTVDVVLLKINQENWCTIEPCPDA
13:23906653-23906653 G>A	1.0	4000	MELANOMA	-	-	ID=COSM1300075,COSM233297;OCCURENCE=1(urinary_tract),1(skin)	-	SACS	ENST00000402364,p.R3038C|ENST00000382292,p.R3788C|uc001uoo.3,p.R3641C|NM_014363,p.R3788C|NM_001278055,p.R3641C|ENST00000382298,p.R3788C|uc001uon.3,p.R3788C	protein_coding, processed_transcript	uc001uoo.3	nonsynonymous SNV	exon8	c.C10921T	p.R3641C	IYEFLSAEKREFRFQLRGVAFVMVE	IYEFLSAEKREFCFQLRGVAFVMVE	7.0	8.0	-	-	4000_13:23906653-23906653 G>A_IYEFLSAEKREFCFQLRGVAFVMVE
20:34067959-34067959 C>T	1.0	4000	MELANOMA	-	-	-	-	CEP250	ENST00000397527,p.R859W|NM_007186,p.R859W|uc021wco.1,p.R859W|uc010zve.2,p.R227W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wco.1	nonsynonymous SNV	exon20	c.C2575T	p.R859W	QKAAHEKEVNQLREKWEKERSWHQQ	QKAAHEKEVNQLWEKWEKERSWHQQ	8.0	3.0	-	-	4000_20:34067959-34067959 C>T_QKAAHEKEVNQLWEKWEKERSWHQQ
2:110881583-110881583 G>A	0.0	4000	MELANOMA	-	-	-	-	NPHP1	uc010ywx.2,p.P606S|ENST00000417665,p.P641S|NM_207181,p.P662S|ENST00000355301,p.P544S|uc002tfm.4,p.P607S|uc002tfo.4,p.P544S|NM_001128178,p.P607S|uc002tfl.4,p.P663S|NM_000272,p.P663S|uc002tfn.4,p.P662S|NM_001128179,p.P544S|ENST00000445609,p.P607S|ENST00000316534,p.P663S|ENST00000393272,p.P662S	retained_intron, protein_coding, nonsense_mediated_decay	uc010ywx.2	nonsynonymous SNV	exon20	c.C1816T	p.P606S	STFLLVYHDCVLPLLHSTRLPPFRW	STFLLVYHDCVLSLLHSTRLPPFRW	6.0	5.0	unscreened	-	4000_2:110881583-110881583 G>A_STFLLVYHDCVLSLLHSTRLPPFRW
11:119043681-119043681 C>T	1.0	4000	MELANOMA	-	-	-	-	NLRX1	ENST00000449394,p.P71L|ENST00000422249,p.P71L|uc001pvw.3,p.P71L|NM_024618,p.P71L|ENST00000292199,p.P71L|ENST00000409265,p.P71L|NM_001282143,p.P71L|ENST00000409991,p.P71L|ENST00000454811,p.P71L|ENST00000525863,p.P71L|ENST00000409109,p.P71L|uc001pvu.3,p.P71L|NM_001282358,p.P71L|uc001pvv.3,p.P71L|NM_001282144,p.P71L|uc001pvx.3,p.P71L	retained_intron, protein_coding, processed_transcript	uc001pvx.3	nonsynonymous SNV	exon4	c.C212T	p.P71L	SAPPPGRHGRLFPSASATEAIQRHR	SAPPPGRHGRLFLSASATEAIQRHR	5.0	10.0	-	-	4000_11:119043681-119043681 C>T_SAPPPGRHGRLFLSASATEAIQRHR
3:145799592-145799592 C>T	1.0	4000	MELANOMA	-	-	-	-	PLOD2	uc003evr.1,p.A431T|ENST00000282903,p.A431T|ENST00000461497,p.A91T|NM_000935,p.A431T|ENST00000494950,p.A376T|uc011bnm.1,p.A376T|uc031sbv.1,p.A91T|NM_182943,p.A431T|uc003evq.1,p.A91T|ENST00000360060,p.A431T|uc003evs.1,p.A431T	retained_intron, protein_coding, nonsense_mediated_decay	uc031sbv.1	nonsynonymous SNV	exon2	c.G271A	p.A91T	TRHGKLWSNFWGALSPDGYYARSED	TRHGKLWSNFWGTLSPDGYYARSED	8.0	6.0	-	-	4000_3:145799592-145799592 C>T_TRHGKLWSNFWGTLSPDGYYARSED
3:51679631-51679631 C>T	1.0	4000	MELANOMA	-	-	-	-	RAD54L2	ENST00000296477,p.P588L|uc003dbj.3,p.P220L|uc003dbh.3,p.P483L|uc011bdt.2,p.P894L|ENST00000409535,p.P894L|uc011bdu.2,p.P588L|NM_015106,p.P894L	retained_intron, protein_coding	uc011bdu.2	nonsynonymous SNV	exon13	c.C1763T	p.P588L	QGMSDRVVDDLNPMLNFTRKEVENL	QGMSDRVVDDLNLMLNFTRKEVENL	7.0	5.0	-	-	4000_3:51679631-51679631 C>T_QGMSDRVVDDLNLMLNFTRKEVENL
12:121175682-121175682 C>T	1.0	4000	MELANOMA	-	-	-	-	ACADS	ENST00000242592,p.A172V|uc001tza.4,p.A172V|NM_000017,p.A172V	retained_intron, protein_coding	uc001tza.4	nonsynonymous SNV	exon5	c.C515T	p.A172V	GSDAGAASTTARAEGDSWVLNGTKA	GSDAGAASTTARVEGDSWVLNGTKA	6.0	10.0	-	-	4000_12:121175682-121175682 C>T_GSDAGAASTTARVEGDSWVLNGTKA
X:48767249-48767249 G>A	1.0	4000	MELANOMA	-	-	-	-	SLC35A2	uc011mmm.1,p.S67F|NM_001282651,p.S67F|ENST00000452555,p.S67F	protein_coding	uc011mmm.1	nonsynonymous SNV	exon3	c.C200T	p.S67F	VRIPAHRRLKYISLAVLVVQNASLI	VRIPAHRRLKYIFLAVLVVQNASLI	7.0	10.0	unscreened	-	4000_X:48767249-48767249 G>A_VRIPAHRRLKYIFLAVLVVQNASLI
X:48767249-48767249 G>A	1.0	4000	MELANOMA	-	-	-	-	SLC35A2	NM_001282650,p.S52F|uc011mml.1,p.S52F|uc011mmo.1,p.S52F	protein_coding	uc011mmo.1	nonsynonymous SNV	exon2	c.C155T	p.S52F	MGGGAHRRLKYISLAVLVVQNASLI	MGGGAHRRLKYIFLAVLVVQNASLI	7.0	10.0	unscreened	-	4000_X:48767249-48767249 G>A_MGGGAHRRLKYIFLAVLVVQNASLI
X:48767249-48767249 G>A	1.0	4000	MELANOMA	-	-	-	-	SLC35A2	ENST00000376515,p.S15F|NM_001282648,p.S15F	protein_coding	NM_001282648	nonsynonymous SNV	exon2	c.C44T	p.S15F	LCRDAHRRLKYISLAVLVVQNASLI	LCRDAHRRLKYIFLAVLVVQNASLI	7.0	10.0	unscreened	-	4000_X:48767249-48767249 G>A_LCRDAHRRLKYIFLAVLVVQNASLI
6:31322977-31322977 G>A	1.0	4000	MELANOMA	-	-	-	-	HLA-B	uc003nth.2,p.P307S|NM_005514,p.P307S|ENST00000412585,p.P307S|uc003ntg.1,p.P186S	retained_intron, protein_coding, nonsense_mediated_decay	uc003nth.2	nonsynonymous SNV	exon5	c.C919T	p.P307S	TLRWEPSSQSTVPIVGIVAGLAVLA	TLRWEPSSQSTVSIVGIVAGLAVLA	10.0	1.0	-	-	4000_6:31322977-31322977 G>A_TLRWEPSSQSTVSIVGIVAGLAVLA
X:47308124-47308124 G>A	1.0	4000	MELANOMA	-	-	-	-	ZNF41	uc004dhs.4,p.H391Y|uc004dhy.4,p.H349Y|NM_153380,p.H349Y|uc004dhx.4,p.H349Y|uc011mlm.2,p.H263Y|uc004dht.4,p.H263Y|ENST00000377065,p.H349Y|ENST00000397050,p.H359Y|ENST00000313116,p.H349Y|NM_007130,p.H349Y|uc004dhu.4,p.H383Y|uc004dhv.4,p.H359Y|uc004dhw.4,p.H351Y	protein_coding, processed_transcript	uc011mlm.2	nonsynonymous SNV	exon4	c.C787T	p.H263Y	TLKSNLITHQKIHTGQKPYKCSECG	TLKSNLITHQKIYTGQKPYKCSECG	7.0	10.0	-	-	4000_X:47308124-47308124 G>A_TLKSNLITHQKIYTGQKPYKCSECG
8:65517372-65517372 G>A	0.0	4000	MELANOMA	-	-	-	-	CYP7B1	uc003xvj.2,p.T367I|NM_004820,p.T367I|ENST00000310193,p.T367I	protein_coding, processed_transcript	uc003xvj.2	nonsynonymous SNV	exon5	c.C1100T	p.T367I	SIFEALRLSSYSTTIRFVEEDLTLS	SIFEALRLSSYSITIRFVEEDLTLS	6.0	3.0	unscreened	-	4000_8:65517372-65517372 G>A_SIFEALRLSSYSITIRFVEEDLTLS
1:12336371-12336371 C>T	1.0	4000	MELANOMA	-	-	-	-	VPS13D	NM_015378,p.S909F|uc001atv.3,p.S909F|uc001atx.3,p.S97F|uc001atw.3,p.S909F|ENST00000358136,p.S909F|ENST00000356315,p.S909F|NM_018156,p.S909F	protein_coding, processed_transcript	uc001atx.3	nonsynonymous SNV	exon1	c.C290T	p.S97F	CFALLTTPEMKTSDTQIKEKIFPQE	CFALLTTPEMKTFDTQIKEKIFPQE	8.0	5.0	-	-	4000_1:12336371-12336371 C>T_CFALLTTPEMKTFDTQIKEKIFPQE
11:61624977-61624977 C>T	1.0	4000	MELANOMA	-	-	-	-	FADS2	NM_004265,p.T286I|ENST00000522056,p.T255I|uc001nsk.3,p.T286I|uc001nsl.1,p.T286I|NM_001281501,p.T264I|ENST00000355484,p.T52I|ENST00000278840,p.T286I|NM_001281502,p.T255I|ENST00000521571,p.T52I|ENST00000257261,p.T264I|uc001nsj.2,p.T264I|ENST00000521849,p.T286I|uc010rlo.1,p.T255I	retained_intron, protein_coding	uc010rlo.1	nonsynonymous SNV	exon7	c.C764T	p.T255I	LIPMYFQYQIIMTMIVHKNWVDLAW	LIPMYFQYQIIMIMIVHKNWVDLAW	7.0	2.0	-	-	4000_11:61624977-61624977 C>T_LIPMYFQYQIIMIMIVHKNWVDLAW
1:84700872-84700872 C>T	1.0	4000	MELANOMA	-	-	-	-	PRKACB	uc001djj.3,p.P314S|NM_001242858,p.P302S|NM_182948,p.P361S|NM_001242857,p.P321S|NM_001242859,p.P318S|ENST00000370682,p.P318S|uc010oru.2,p.P302S|ENST00000370689,p.P314S|NM_001242860,p.P320S|NM_001242862,p.P301S|uc001djq.3,p.P284S|ENST00000370685,p.P361S|NM_001242861,p.P284S|NM_002731,p.P314S|ENST00000394838,p.P321S|uc001djp.3,p.P320S|uc010orv.2,p.P301S|uc001djl.3,p.P361S|uc010ort.2,p.P321S|ENST00000394839,p.P284S|uc001djn.3,p.P318S	protein_coding, processed_transcript	uc010orv.2	nonsynonymous SNV	exon9	c.C901T	p.P301S	DWIAIYQRKVEAPFIPKFRGSGDTS	DWIAIYQRKVEASFIPKFRGSGDTS	9.0	8.0	-	-	4000_1:84700872-84700872 C>T_DWIAIYQRKVEASFIPKFRGSGDTS
X:50094243-50094243 C>T	1.0	4000	MELANOMA	-	-	-	-	CCNB3	ENST00000276014,p.P1322S|ENST00000376038,p.P218S|NM_033031,p.P1322S|NM_033670,p.P218S|ENST00000348603,p.P218S|uc004doz.3,p.P218S|uc004dpa.3,p.P161S|uc004dox.4,p.P1322S|ENST00000376042,p.P1322S|uc010njq.3,p.P214S|uc004doy.3,p.P1322S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010njq.3	nonsynonymous SNV	exon10	c.C640T	p.P214S	LALYMKKLGYWVPFLEHYSGYSISE	LALYMKKLGYWVSFLEHYSGYSISE	5.0	10.0	-	-	4000_X:50094243-50094243 C>T_LALYMKKLGYWVSFLEHYSGYSISE
11:76901153-76901153 G>A	1.0	4000	MELANOMA	-	-	-	-	MYO7A	ENST00000458637,p.R1240Q|uc009yut.1,p.R451Q|NM_001127180,p.R1240Q|uc010rsm.1,p.R1229Q|NM_000260,p.R1240Q|uc001oyc.2,p.R1240Q|ENST00000409619,p.R1229Q|uc001oyb.2,p.R1240Q|ENST00000409709,p.R1240Q|ENST00000458169,p.R421Q	retained_intron, protein_coding, processed_transcript	uc010rsm.1	nonsynonymous SNV	exon30	c.G3686A	p.R1229Q	EERLRRTFVNGTRTQPPSWLELQAT	EERLRRTFVNGTQTQPPSWLELQAT	8.0	4.0	-	-	4000_11:76901153-76901153 G>A_EERLRRTFVNGTQTQPPSWLELQAT
1:2235741-2235741 C>T	1.0	4000	MELANOMA	-	-	-	2	SKI	NM_003036,p.S495F|uc001aja.4,p.S495F|ENST00000378536,p.S495F	retained_intron, protein_coding, processed_transcript	uc001aja.4	nonsynonymous SNV	exon5	c.C1484T	p.S495F	EVEVESREEFTSSLSSLSSPSFTSS	EVEVESREEFTSFLSSLSSPSFTSS	10.0	2.0	-	-	4000_1:2235741-2235741 C>T_EVEVESREEFTSFLSSLSSPSFTSS
16:31927698-31927698 C>T	1.0	4000	MELANOMA	-	-	-	-	ZNF267	uc031qvx.1,p.H678Y|ENST00000300870,p.H710Y|uc031qvw.1,p.H454Y|uc002ecs.5,p.H710Y|NM_003414,p.H710Y|NM_001265588,p.H678Y	protein_coding, nonsense_mediated_decay	uc031qvx.1	nonsynonymous SNV	exon5	c.C2032T	p.H678Y	SYRSYLTTHRRSHSGERPYKCEECG	SYRSYLTTHRRSYSGERPYKCEECG	8.0	1.0	-	-	4000_16:31927698-31927698 C>T_SYRSYLTTHRRSYSGERPYKCEECG
7:44802526-44802526 C>T	1.0	4000	MELANOMA	-	-	-	-	ZMIZ2	uc003tls.3,p.S522L|ENST00000413916,p.S490L|uc003tlr.3,p.S548L|uc003tlq.3,p.S490L|NM_174929,p.S522L|ENST00000441627,p.S548L|NM_031449,p.S548L|NM_001300959,p.S490L|ENST00000433667,p.S516L|uc003tlt.3,p.S171L|uc010kyj.3,p.S70L|ENST00000309315,p.S548L|ENST00000265346,p.S522L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kyj.3	nonsynonymous SNV	exon3	c.C209T	p.S70L	FVLQLVHRPSVRSVLQGLLKKRLLP	FVLQLVHRPSVRLVLQGLLKKRLLP	9.0	8.0	-	-	4000_7:44802526-44802526 C>T_FVLQLVHRPSVRLVLQGLLKKRLLP
2:46607556-46607556 C>T	1.0	4000	MELANOMA	-	-	-	1	EPAS1	uc002ruv.3,p.P582L|NM_001430,p.P582L|ENST00000263734,p.P582L|uc002ruw.3,p.P48L	retained_intron, protein_coding, processed_transcript	uc002ruw.3	nonsynonymous SNV	exon1	c.C143T	p.P48L	IFQPLAPVAPHSPFLLDKFQQQLES	IFQPLAPVAPHSLFLLDKFQQQLES	10.0	1.0	-	-	4000_2:46607556-46607556 C>T_IFQPLAPVAPHSLFLLDKFQQQLES
3:124413193-124413193 C>T	1.0	4000	MELANOMA	-	-	-	-	KALRN	NM_007064,p.L777F|ENST00000428018,p.L745F|ENST00000291478,p.L777F|uc003ehg.3,p.L2474F|uc003ehk.3,p.L777F|NM_001024660,p.L2474F|ENST00000360013,p.L2474F	retained_intron, protein_coding, processed_transcript	uc003ehk.3	nonsynonymous SNV	exon20	c.C2329T	p.L777F	NPNFIQEVAPEFLVPLVDVTCLLGD	NPNFIQEVAPEFFVPLVDVTCLLGD	8.0	4.0	-	-	4000_3:124413193-124413193 C>T_NPNFIQEVAPEFFVPLVDVTCLLGD
18:59824446-59824446 G>A	1.0	4000	MELANOMA	-	-	-	-	PIGN	ENST00000591238,p.P43S|uc021ulb.1,p.P120S|ENST00000357637,p.P120S|ENST00000585923,p.P120S|NM_176787,p.P120S|ENST00000588748,p.P43S|NM_012327,p.P120S|ENST00000589098,p.P25S|ENST00000590765,p.P84S|ENST00000400334,p.P120S|ENST00000589720,p.P120S|ENST00000585458,p.P43S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ulb.1	nonsynonymous SNV	exon3	c.C358T	p.P120S	DVSAVAKGWKENPVEFDSLFNESKY	DVSAVAKGWKENSVEFDSLFNESKY	9.0	3.0	-	-	4000_18:59824446-59824446 G>A_DVSAVAKGWKENSVEFDSLFNESKY
1:157497563-157497563 G>A	0.0	4000	MELANOMA	-	-	-	-	FCRL5	ENST00000368191,p.H517Y|NM_001195388,p.H602Y|ENST00000361835,p.H602Y|uc010phw.1,p.H517Y|uc010phv.1,p.H602Y|uc001fqu.3,p.H602Y|ENST00000356953,p.H602Y|uc009wsm.3,p.H602Y|ENST00000368190,p.H602Y|NM_031281,p.H602Y	protein_coding, processed_transcript	uc010phw.1	nonsynonymous SNV	exon8	c.C1549T	p.H517Y	PRGSPPILYWFYHEDVTLGSSSAPS	PRGSPPILYWFYYEDVTLGSSSAPS	8.0	1.0	unscreened	-	4000_1:157497563-157497563 G>A_PRGSPPILYWFYYEDVTLGSSSAPS
17:7158011-7158011 C>T	1.0	4000	MELANOMA	-	-	-	-	ELP5	uc002gfj.3,p.P116S|uc002gfi.1,p.P116S|ENST00000573699,p.P116S|ENST00000356683,p.P116S|uc002gfg.1,p.P116S|ENST00000571146,p.P85S|ENST00000396628,p.P116S|NM_015362,p.P116S|NM_203413,p.P116S|uc010cmb.3,p.P116S|uc002gfk.1,p.P116S|ENST00000573657,p.P116S|ENST00000574255,p.P116S|ENST00000574993,p.P116S|ENST00000396627,p.P116S|ENST00000354429,p.P116S|uc002gfh.1,p.P116S|ENST00000573513,p.P116S|NM_203414,p.P116S|NM_203415,p.P116S	protein_coding, nonsense_mediated_decay	uc010cmb.3	nonsynonymous SNV	exon4	c.C346T	p.P116S	LGALRAMCKRTDPVPVTIALDSLSW	LGALRAMCKRTDSVPVTIALDSLSW	8.0	7.0	-	-	4000_17:7158011-7158011 C>T_LGALRAMCKRTDSVPVTIALDSLSW
20:8689378-8689378 C>T	1.0	4000	MELANOMA	-	-	ID=COSM1029318,COSM1029319;OCCURENCE=1(endometrium)	-	PLCB1	uc002wnc.1,p.S309L|ENST00000378641,p.S410L|uc002wna.4,p.S410L|NM_015192,p.S410L|uc002wnb.4,p.S410L|uc010zrb.1,p.S309L|NM_182734,p.S410L|ENST00000338037,p.S410L|ENST00000378637,p.S410L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zrb.1	nonsynonymous SNV	exon12	c.C926T	p.S309L	CAFKTSPFPILLSFENHVDSPKQQA	CAFKTSPFPILLLFENHVDSPKQQA	5.0	9.0	-	-	4000_20:8689378-8689378 C>T_CAFKTSPFPILLLFENHVDSPKQQA
5:60839843-60839843 C>T	1.0	4000	MELANOMA	-	-	-	-	ZSWIM6	ENST00000252744,p.P1116L|NM_020928,p.P1116L|uc003jsr.3,p.P1116L	protein_coding	uc003jsr.3	nonsynonymous SNV	exon14	c.C3347T	p.P1116L	LSDILRRCTLTTPGMVGLHGRRNSG	LSDILRRCTLTTLGMVGLHGRRNSG	8.0	2.0	-	-	4000_5:60839843-60839843 C>T_LSDILRRCTLTTLGMVGLHGRRNSG
15:65450119-65450119 T>C	1.0	4000	MELANOMA	-	-	-	-	CLPX	ENST00000300107,p.Q341R|NM_006660,p.Q341R|uc010bhg.1,p.Q341R|uc002aom.3,p.Q341R	retained_intron, protein_coding, nonsense_mediated_decay	uc010bhg.1	nonsynonymous SNV	exon8	c.A1022G	p.Q341R	GEDIESVIAKLLQDANYNVEKAQQG	GEDIESVIAKLLRDANYNVEKAQQG	9.0	8.0	-	-	4000_15:65450119-65450119 T>C_GEDIESVIAKLLRDANYNVEKAQQG
2:231103016-231103016 C>T	0.0	4000	MELANOMA	-	-	-	-	SP140	ENST00000392045,p.S109L|uc002vqj.3,p.S109L|ENST00000350136,p.S89L|ENST00000373645,p.S109L|uc002vqk.2,p.S109L|uc002vqn.3,p.S109L|uc010fxl.3,p.S109L|ENST00000420434,p.S109L|ENST00000343805,p.S109L|NM_001005176,p.S109L|NM_001278453,p.S109L|NM_001278452,p.S109L|ENST00000417495,p.S109L|NM_001278451,p.S109L|uc002vql.3,p.S109L|NM_007237,p.S109L|ENST00000486687,p.S109L|uc002vqm.3,p.S109L	retained_intron, protein_coding, processed_transcript	uc010fxl.3	nonsynonymous SNV	exon3	c.C326T	p.S109L	CVLSELEKTFGWSHLEALFSRINLM	CVLSELEKTFGWLHLEALFSRINLM	7.0	1.0	unscreened	-	4000_2:231103016-231103016 C>T_CVLSELEKTFGWLHLEALFSRINLM
12:50153076-50153076 G>A	1.0	4000	MELANOMA	-	-	-	-	TMBIM6	NM_003217,p.A196T|ENST00000267115,p.A196T|ENST00000552699,p.A254T|uc001ruy.2,p.A254T|ENST00000395006,p.A196T|ENST00000547798,p.A159T|ENST00000549385,p.A196T|uc001rux.2,p.A196T|NM_001098576,p.A254T|uc001ruz.2,p.A196T|ENST00000423828,p.A254T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ruz.2	nonsynonymous SNV	exon8	c.G586A	p.A196T	FVLFDTQLIIEKAEHGDQDYIWHCI	FVLFDTQLIIEKTEHGDQDYIWHCI	10.0	6.0	-	-	4000_12:50153076-50153076 G>A_FVLFDTQLIIEKTEHGDQDYIWHCI
5:37293083-37293083 G>A	1.0	4000	MELANOMA	-	-	-	-	NUP155	ENST00000231498,p.P1312L|uc010iuz.1,p.P1248L|ENST00000513532,p.P1248L|uc003jku.1,p.P1312L|ENST00000381843,p.P1253L|NM_004298,p.P1253L|NM_001278312,p.P1248L|uc003jkt.1,p.P1253L|NM_153485,p.P1312L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010iuz.1	nonsynonymous SNV	exon33	c.C3743T	p.P1248L	LEVYDQLFKSRDPFWNRMKKPLHLL	LEVYDQLFKSRDLFWNRMKKPLHLL	8.0	6.0	-	-	4000_5:37293083-37293083 G>A_LEVYDQLFKSRDLFWNRMKKPLHLL
14:68249901-68249901 G>A	1.0	4000	MELANOMA	-	-	-	-	ZFYVE26	ENST00000347230,p.A1323V|uc001xka.2,p.A1323V|NM_015346,p.A1323V|uc001xkc.4,p.A1323V|ENST00000555452,p.A1323V	retained_intron, protein_coding, nonsense_mediated_decay	uc001xkc.4	nonsynonymous SNV	exon21	c.C3968T	p.A1323V	RSKLLATVACLGASPRLKVSKPSLS	RSKLLATVACLGVSPRLKVSKPSLS	9.0	2.0	-	-	4000_14:68249901-68249901 G>A_RSKLLATVACLGVSPRLKVSKPSLS
16:701042-701042 C>T	1.0	4000	MELANOMA	-	-	-	-	WDR90	uc002cii.1,p.R203W|uc002cih.1,p.R203W|uc002cig.1,p.R203W|ENST00000549091,p.R203W|ENST00000293879,p.R203W|NM_145294,p.R203W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002cii.1	nonsynonymous SNV	exon6	c.C607T	p.R203W	AQWAKLPVTPMPREMAFPVPKGESW	AQWAKLPVTPMPWEMAFPVPKGESW	7.0	5.0	-	-	4000_16:701042-701042 C>T_AQWAKLPVTPMPWEMAFPVPKGESW
7:139299046-139299046 G>A	1.0	4000	MELANOMA	-	-	-	-	HIPK2	NM_022740,p.P659L|NM_001113239,p.P632L|ENST00000342645,p.P659L|ENST00000428878,p.P632L|ENST00000406875,p.P659L|uc003vvd.4,p.P632L|uc003vvf.4,p.P659L	protein_coding	uc003vvf.4	nonsynonymous SNV	exon8	c.C1976T	p.P659L	RPDPFQQALIVCPPGFQGLQASPSK	RPDPFQQALIVCLPGFQGLQASPSK	10.0	5.0	-	-	4000_7:139299046-139299046 G>A_RPDPFQQALIVCLPGFQGLQASPSK
11:30352505-30352505 C>T	1.0	4000	MELANOMA	-	-	-	-	ARL14EP	ENST00000530909,p.P4S|NM_152316,p.P4S|ENST00000282032,p.P4S|uc001mso.1,p.P4S	retained_intron, protein_coding, processed_transcript	uc001mso.1	nonsynonymous SNV	exon2	c.C10T	p.P4S	MMDPCSVGVQLRTTNE	MMDSCSVGVQLRTTNE	10.0	1.0	-	-	4000_11:30352505-30352505 C>T_MMDSCSVGVQLRTTNE
11:17809847-17809847 G>A	1.0	4000	MELANOMA	-	-	-	-	SERGEF	NM_012139,p.L388F|uc001mnm.3,p.L388F|ENST00000265965,p.L388F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001mnm.3	nonsynonymous SNV	exon11	c.C1162T	p.L388F	KPVQALLSSSGLLVGCGAGHSLALC	KPVQALLSSSGLFVGCGAGHSLALC	6.0	4.0	-	-	4000_11:17809847-17809847 G>A_KPVQALLSSSGLFVGCGAGHSLALC
8:95502281-95502281 C>T	1.0	4000	MELANOMA	-	-	-	-	KIAA1429	uc003ygo.2,p.G1724S|NM_015496,p.G1724S|ENST00000297591,p.G1724S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ygo.2	nonsynonymous SNV	exon23	c.G5170A	p.G1724S	SKGNYSRREGTRGSSWSAQNTPRGN	SKGNYSRREGTRSSSWSAQNTPRGN	9.0	10.0	-	-	4000_8:95502281-95502281 C>T_SKGNYSRREGTRSSSWSAQNTPRGN
6:33639878-33639878 C>T	1.0	4000	MELANOMA	-	-	-	-	ITPR3	ENST00000605930,p.S934F|ENST00000374316,p.S934F|uc021ywr.1,p.S934F|NM_002224,p.S934F	protein_coding	uc021ywr.1	nonsynonymous SNV	exon22	c.C2801T	p.S934F	HMMSTMVLSRKQSVFSAPSLSAGAS	HMMSTMVLSRKQFVFSAPSLSAGAS	8.0	3.0	-	-	4000_6:33639878-33639878 C>T_HMMSTMVLSRKQFVFSAPSLSAGAS
6:74440235-74440235 C>T	1.0	4000	MELANOMA	0.0005	-	ID=COSM743159;OCCURENCE=1(lung),1(breast)	-	CD109	ENST00000437994,p.R149C|ENST00000287097,p.R149C|NM_133493,p.R149C|uc003phq.3,p.R149C|uc003php.3,p.R149C|NM_001159587,p.R149C	protein_coding, processed_transcript	uc003phq.3	nonsynonymous SNV	exon4	c.C445T	p.R149C	KALYKPKQEVKFRIVTLFSDFKPYK	KALYKPKQEVKFCIVTLFSDFKPYK	10.0	4.0	-	-	4000_6:74440235-74440235 C>T_KALYKPKQEVKFCIVTLFSDFKPYK
17:79094576-79094576 C>T	1.0	4000	MELANOMA	-	-	-	-	AATK	ENST00000417379,p.E951K|uc010dia.3,p.E1054K|uc021ueu.1,p.E951K|NM_001080395,p.E1054K|ENST00000326724,p.E1054K|NM_004920,p.E951K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ueu.1	nonsynonymous SNV	exon10	c.G2851A	p.E951K	GVSGEAQGSGPGEVLPPLLQLEGSS	GVSGEAQGSGPGKVLPPLLQLEGSS	5.0	10.0	-	-	4000_17:79094576-79094576 C>T_GVSGEAQGSGPGKVLPPLLQLEGSS
6:30866949-30866949 C>G	1.0	4000	MELANOMA	-	-	-	-	DDR1	ENST00000452441,p.P873R|NM_001297653,p.P836R|uc003nrv.3,p.P879R|ENST00000508312,p.P854R|uc011dms.2,p.P854R|uc010jse.3,p.P836R|uc003nrs.3,p.P873R|ENST00000376575,p.P879R|NM_001202523,p.P854R|NM_001202522,p.P727R|NM_013993,p.P873R|uc003nrx.2,p.P727R|uc003nrq.3,p.P836R|ENST00000324771,p.P873R|NM_001954,p.P836R|ENST00000454612,p.P836R|NM_001297652,p.P836R|uc003nru.3,p.P836R|NM_013994,p.P879R|ENST00000513240,p.P879R|ENST00000376570,p.P836R|ENST00000376567,p.P836R|uc003nrr.3,p.P873R|ENST00000418800,p.P836R|ENST00000376568,p.P873R|ENST00000376569,p.P836R|NM_001297654,p.P873R|uc003nrt.3,p.P836R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dms.2	nonsynonymous SNV	exon17	c.C2561G	p.P854R	FRDQGRQVYLSRPPACPQGLYELML	FRDQGRQVYLSRRPACPQGLYELML	8.0	5.0	-	-	4000_6:30866949-30866949 C>G_FRDQGRQVYLSRRPACPQGLYELML
15:48413264-48413264 C>T	1.0	4000	MELANOMA	-	-	ID=COSM1517173;OCCURENCE=1(lung)	-	SLC24A5	ENST00000449382,p.T8I|ENST00000482911,p.T8I|NM_205850,p.T8I|uc001zwd.3,p.T8I|uc010bel.3,p.T8I|uc001zwe.3,p.T8I|ENST00000341459,p.T8I	retained_intron, protein_coding	uc010bel.3	nonsynonymous SNV	exon1	c.C23T	p.T8I	MQTKGGQTWARRALLLGILW	MQTKGGQIWARRALLLGILW	10.0	9.0	-	-	4000_15:48413264-48413264 C>T_MQTKGGQIWARRALLLGILW
19:41173806-41173806 G>A	0.0	4000	MELANOMA	-	-	-	-	NUMBL	ENST00000540131,p.P425L|NM_004756,p.P466L|ENST00000252891,p.P466L|uc002ooo.3,p.P465L|NM_001289979,p.P425L|uc010xvr.2,p.P425L|uc010xvq.2,p.P425L|uc002oon.3,p.P466L|NM_001289980,p.P425L|ENST00000598779,p.P425L	retained_intron, protein_coding, processed_transcript	uc010xvr.2	nonsynonymous SNV	exon9	c.C1274T	p.P425L	PTMPPALQPFPAPVGPFDAAPAQVA	PTMPPALQPFPALVGPFDAAPAQVA	6.0	8.0	unscreened	-	4000_19:41173806-41173806 G>A_PTMPPALQPFPALVGPFDAAPAQVA
2:179634855-179634855 G>A	0.0	4000	MELANOMA	-	-	-	-	TTN	ENST00000342175,p.P2812L|uc002unb.3,p.P2858L|uc021vta.2,p.P2812L|ENST00000342992,p.P2858L|uc031rqc.1,p.P2858L|uc021vsy.2,p.P2858L|NM_001267550,p.P2858L|uc021vsz.2,p.P2812L|uc021vtb.2,p.P2812L|ENST00000360870,p.P2858L|NM_133432,p.P2812L|NM_003319,p.P2812L|NM_133378,p.P2858L|NM_001256850,p.P2858L|ENST00000591111,p.P2858L|ENST00000359218,p.P2812L|NM_133437,p.P2812L|ENST00000589042,p.P2858L|uc031rqd.1,p.P2858L|ENST00000460472,p.P2812L|NM_133379,p.P2858L	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon36	c.C8573T	p.P2858L	RKVHKLMLQNISPSDAGEYTAVVGQ	RKVHKLMLQNISLSDAGEYTAVVGQ	6.0	1.0	unscreened	-	4000_2:179634855-179634855 G>A_RKVHKLMLQNISLSDAGEYTAVVGQ
X:15845471-15845471 G>A	1.0	4000	MELANOMA	-	-	-	-	AP1S2	uc010nex.4,p.L154F|NM_001272071,p.L154F	protein_coding, processed_transcript	uc010nex.4	nonsynonymous SNV	exon6	c.C460T	p.L154F	EDAKEAETPRSVLEEIGLT	EDAKEAETPRSVFEEIGLT	10.0	10.0	-	-	4000_X:15845471-15845471 G>A_EDAKEAETPRSVFEEIGLT
X:15845471-15845471 G>A	1.0	4000	MELANOMA	-	-	-	-	AP1S2	ENST00000329235,p.L151F|NM_003916,p.L151F|uc004cxi.4,p.L151F	protein_coding, processed_transcript	uc004cxi.4	nonsynonymous SNV	exon5	c.C451T	p.L151F	LLQEEAETPRSVLEEIGLT	LLQEEAETPRSVFEEIGLT	10.0	10.0	-	-	4000_X:15845471-15845471 G>A_LLQEEAETPRSVFEEIGLT
1:153910077-153910077 G>A	1.0	4000	MELANOMA	-	-	-	-	DENND4B	ENST00000361217,p.P707S|ENST00000368646,p.P718S|NM_014856,p.P707S|uc001fdd.1,p.P707S	retained_intron, protein_coding, processed_transcript	uc001fdd.1	nonsynonymous SNV	exon15	c.C2119T	p.P707S	SESTPQYCYDGFPELRAELFESLQE	SESTPQYCYDGFSELRAELFESLQE	9.0	6.0	-	-	4000_1:153910077-153910077 G>A_SESTPQYCYDGFSELRAELFESLQE
14:33684597-33684597 G>A	1.0	4000	MELANOMA	-	-	ID=COSM1369621,COSM3706245,COSM1369622,COSM1369623;OCCURENCE=1(large_intestine),2(liver)	-	NPAS3	ENST00000356141,p.R117Q|uc001wru.3,p.R117Q|ENST00000551634,p.R94Q|ENST00000551008,p.R15Q|uc001wrw.3,p.R15Q|uc001wrv.3,p.R87Q|ENST00000546849,p.R27Q|NM_001164749,p.R117Q|ENST00000341321,p.R117Q|NM_001165893,p.R87Q|ENST00000548645,p.R87Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wrw.3	nonsynonymous SNV	exon1	c.G44A	p.R15Q	DFANQGDPPWNLRMEGPPPNTSVKV	DFANQGDPPWNLQMEGPPPNTSVKV	7.0	9.0	-	-	4000_14:33684597-33684597 G>A_DFANQGDPPWNLQMEGPPPNTSVKV
14:33684597-33684597 G>A	1.0	4000	MELANOMA	-	-	ID=COSM1369621,COSM3706245,COSM1369622,COSM1369623;OCCURENCE=1(large_intestine),2(liver)	-	NPAS3	NM_022123,p.R87Q|ENST00000346562,p.R87Q|ENST00000551492,p.R124Q|ENST00000547068,p.R15Q|uc001wrt.3,p.R87Q|uc001wrs.3,p.R87Q|ENST00000357798,p.R87Q|NM_173159,p.R87Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wrt.3	nonsynonymous SNV	exon2	c.G260A	p.R87Q	DFANQGDPPWNLRMEGPPPNTSVKG	DFANQGDPPWNLQMEGPPPNTSVKG	7.0	9.0	unscreened	-	4000_14:33684597-33684597 G>A_DFANQGDPPWNLQMEGPPPNTSVKG
10:99655131-99655131 G>A	1.0	4000	MELANOMA	-	-	-	-	CRTAC1	ENST00000298819,p.R453W|uc001kot.2,p.R243W|ENST00000370591,p.R453W|ENST00000413387,p.R349W|uc001kou.2,p.R453W|ENST00000370597,p.R453W|ENST00000309155,p.R445W|NM_001206528,p.R453W|NM_018058,p.R453W|uc001kov.3,p.R453W	protein_coding, processed_transcript	uc001kov.3	nonsynonymous SNV	exon11	c.C1357T	p.R453W	FNNNWLRVVPRTRFGAFARGAKVVL	FNNNWLRVVPRTWFGAFARGAKVVL	8.0	1.0	-	-	4000_10:99655131-99655131 G>A_FNNNWLRVVPRTWFGAFARGAKVVL
19:39406485-39406485 T>C	1.0	4000	MELANOMA	-	-	-	-	SARS2	uc010xuq.1,p.Q470R|uc002oka.2,p.Q470R|ENST00000448145,p.Q470R|ENST00000594171,p.Q280R|uc002ojz.2,p.Q280R|NM_017827,p.Q470R|ENST00000430193,p.Q470R|NM_001145901,p.Q472R|ENST00000221431,p.Q470R|uc010xup.1,p.Q472R|ENST00000600042,p.Q472R|ENST00000598831,p.Q118R	protein_coding,retained_intron, protein_coding, nonsense_mediated_decay	uc010xuq.1	nonsynonymous SNV	exon19	c.A1409G	p.Q470R	PRLLIALLESNQQKDGSVLVPPALQ	PRLLIALLESNQRKDGSVLVPPALQ	7.0	5.0	-	-	4000_19:39406485-39406485 T>C_PRLLIALLESNQRKDGSVLVPPALQ
X:40526037-40526037 G>A	1.0	4000	MELANOMA	-	-	-	-	MED14	NM_004229,p.P1067L|uc004dex.4,p.P1067L|ENST00000324817,p.P1067L	protein_coding, processed_transcript	uc004dex.4	nonsynonymous SNV	exon24	c.C3200T	p.P1067L	GALRAPSPASFVPTPPPSSHGISIG	GALRAPSPASFVLTPPPSSHGISIG	10.0	10.0	-	-	4000_X:40526037-40526037 G>A_GALRAPSPASFVLTPPPSSHGISIG
17:54923163-54923163 C>T	0.0	4000	MELANOMA	-	-	-	-	DGKE	uc002ius.1,p.P246L|NM_003647,p.P246L|ENST00000284061,p.P246L|uc002iur.3,p.P246L	retained_intron, protein_coding, processed_transcript	uc002ius.1	nonsynonymous SNV	exon3	c.C737T	p.P246L	EGLLGEFRILLNPVQVFDVTKTPPI	EGLLGEFRILLNLVQVFDVTKTPPI	6.0	8.0	unscreened	-	4000_17:54923163-54923163 C>T_EGLLGEFRILLNLVQVFDVTKTPPI
19:6415664-6415664 G>A	1.0	4000	MELANOMA	-	-	-	-	KHSRP	NM_003685,p.P590L|uc002mer.4,p.P590L|ENST00000398148,p.P590L	retained_intron, protein_coding	uc002mer.4	nonsynonymous SNV	exon17	c.C1769T	p.P590L	AYYSHYYQQPPGPVPGPAPAPAAPP	AYYSHYYQQPPGLVPGPAPAPAAPP	10.0	10.0	-	-	4000_19:6415664-6415664 G>A_AYYSHYYQQPPGLVPGPAPAPAAPP
19:6415663-6415663 G>A	1.0	4000	MELANOMA	-	-	-	-	KHSRP	ENST00000594745,p.P15L	retained_intron, protein_coding	ENST00000594745	nonsynonymous SNV	exon1	c.C44T	p.P15L	AYYSHYYQQPPGPVPGPAPAPAAPP	AYYSHYYQQPPGLVPGPAPAPAAPP	10.0	10.0	unscreened	-	4000_19:6415663-6415663 G>A_AYYSHYYQQPPGLVPGPAPAPAAPP
7:16736582-16736582 C>T	1.0	4000	MELANOMA	-	-	-	-	BZW2	uc011jxx.1,p.P95S|uc003sto.1,p.P137S|uc003stm.2,p.P95S|uc003stl.2,p.P289S|NM_014038,p.P289S|NM_001159767,p.P289S|ENST00000415365,p.P289S|ENST00000405202,p.P213S|uc003stj.2,p.P289S|ENST00000433922,p.P289S|ENST00000407633,p.P95S|ENST00000258761,p.P289S	retained_intron, protein_coding, nonsense_mediated_decay	uc011jxx.1	nonsynonymous SNV	exon8	c.C283T	p.P95S	LYVKEEMKRNDLPETAVIGLLWTCI	LYVKEEMKRNDLSETAVIGLLWTCI	7.0	7.0	-	-	4000_7:16736582-16736582 C>T_LYVKEEMKRNDLSETAVIGLLWTCI
6:56966299-56966299 C>T	1.0	4000	MELANOMA	-	-	-	-	ZNF451	ENST00000370708,p.S362F|uc011dxn.3,p.S362F|uc003pdo.4,p.S299F|NM_001257273,p.S362F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxn.3	nonsynonymous SNV	exon4	c.C1085T	p.S362F	EALEHSKRGNTTSPLDSTSKEMEVM	EALEHSKRGNTTFPLDSTSKEMEVM	10.0	1.0	-	-	4000_6:56966299-56966299 C>T_EALEHSKRGNTTFPLDSTSKEMEVM
16:19548792-19548792 C>T	1.0	4000	MELANOMA	-	-	-	-	CCP110	ENST00000396208,p.P601S|uc002dgk.4,p.P601S|uc002dgl.4,p.P601S|ENST00000381396,p.P601S|NM_014711,p.P601S|ENST00000396212,p.P601S|NM_001199022,p.P601S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dgl.4	nonsynonymous SNV	exon4	c.C1801T	p.P601S	DLDIDGLQKENCPYVITSGITEQER	DLDIDGLQKENCSYVITSGITEQER	8.0	3.0	-	-	4000_16:19548792-19548792 C>T_DLDIDGLQKENCSYVITSGITEQER
3:67058673-67058673 C>T	0.0	4000	MELANOMA	-	-	-	-	KBTBD8	ENST00000417314,p.S557F|uc011bfv.2,p.S115F|ENST00000295568,p.S531F|uc003dmy.3,p.S557F|NM_032505,p.S557F|ENST00000460576,p.S115F	protein_coding, processed_transcript	uc011bfv.2	nonsynonymous SNV	exon2	c.C344T	p.S115F	VEEHVFRTSRKNSLYQYDDIADQWM	VEEHVFRTSRKNFLYQYDDIADQWM	6.0	7.0	unscreened	-	4000_3:67058673-67058673 C>T_VEEHVFRTSRKNFLYQYDDIADQWM
21:46696961-46696961 G>A	1.0	4000	MELANOMA	-	-	-	-	POFUT2	uc002zhd.3,p.P268S|NM_133635,p.P268S|ENST00000349485,p.P268S|uc002zhc.3,p.P268S|ENST00000334538,p.P268S|NM_015227,p.P268S|ENST00000331343,p.P268S	protein_coding, processed_transcript, nonsense_mediated_decay	uc002zhd.3	nonsynonymous SNV	exon6	c.C802T	p.P268S	RHLNSTDDADRIPFQEDWMKMKVKL	RHLNSTDDADRISFQEDWMKMKVKL	9.0	8.0	-	-	4000_21:46696961-46696961 G>A_RHLNSTDDADRISFQEDWMKMKVKL
3:52584833-52584833 C>T	1.0	4000	MELANOMA	-	-	-	1	PBRM1	ENST00000337303,p.G1430D|ENST00000409767,p.G1445D|uc003det.2,p.G1445D|uc003deq.2,p.G1430D	retained_intron, protein_coding, nonsense_mediated_decay	uc003det.2	nonsynonymous SNV	exon27	c.G4334A	p.G1445D	RNLETAKKAEYEGVMNQGVAPMVGT	RNLETAKKAEYEDVMNQGVAPMVGT	9.0	4.0	-	-	4000_3:52584833-52584833 C>T_RNLETAKKAEYEDVMNQGVAPMVGT
5:89757315-89757315 T>A	1.0	4000	MELANOMA	-	-	-	-	MBLAC2	NM_203406,p.H170L|uc003kjp.3,p.H170L|ENST00000316610,p.H170L	protein_coding	uc003kjp.3	nonsynonymous SNV	exon2	c.A509T	p.H170L	GDRQLTVMHMPGHSRGSICLHDKDR	GDRQLTVMHMPGLSRGSICLHDKDR	5.0	5.0	-	-	4000_5:89757315-89757315 T>A_GDRQLTVMHMPGLSRGSICLHDKDR
2:230910461-230910461 C>T	0.0	4000	MELANOMA	-	-	-	-	SLC16A14	NM_152527,p.G461R|uc002vqd.2,p.G461R|ENST00000295190,p.G461R	protein_coding	uc002vqd.2	nonsynonymous SNV	exon4	c.G1381A	p.G461R	NGISALLGPPFAGWIYDITQKYDFS	NGISALLGPPFARWIYDITQKYDFS	5.0	1.0	unscreened	-	4000_2:230910461-230910461 C>T_NGISALLGPPFARWIYDITQKYDFS
2:225670195-225670195 G>A	1.0	4000	MELANOMA	-	-	-	-	DOCK10	NM_014689,p.S1289F|uc010fwz.1,p.S1289F|ENST00000409592,p.S1283F|ENST00000258390,p.S1289F|NM_001290263,p.S1283F|uc002vob.2,p.S1283F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fwz.1	nonsynonymous SNV	exon35	c.C3866T	p.S1289F	AISTVNHADSRASLASLDSNPSTNE	AISTVNHADSRAFLASLDSNPSTNE	10.0	7.0	-	-	4000_2:225670195-225670195 G>A_AISTVNHADSRAFLASLDSNPSTNE
19:50827183-50827183 C>T	1.0	4000	MELANOMA	-	-	-	-	KCNC3	NM_004977,p.E343K|uc002pru.1,p.E343K|ENST00000376959,p.E343K|ENST00000477616,p.E343K	protein_coding	uc002pru.1	nonsynonymous SNV	exon2	c.G1027A	p.E343K	GAPPENITNVEVETEPFLTYVEGVC	GAPPENITNVEVKTEPFLTYVEGVC	5.0	8.0	-	-	4000_19:50827183-50827183 C>T_GAPPENITNVEVKTEPFLTYVEGVC
5:56234786-56234786 G>A	1.0	4000	MELANOMA	-	-	-	-	MIER3	ENST00000336942,p.P53L|uc003jrd.1,p.P80L|ENST00000452157,p.P80L|uc003jqz.1,p.P17L|ENST00000409421,p.P17L|ENST00000381199,p.P80L|uc003jrc.1,p.P85L|uc003jra.1,p.P80L|ENST00000381213,p.P80L|NM_001297599,p.P80L|ENST00000381226,p.P85L|NM_152622,p.P80L|NM_001297598,p.P85L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jrd.1	nonsynonymous SNV	exon4	c.C239T	p.P80L	DLLAFYGYEPTIPAVANSSANSSPS	DLLAFYGYEPTILAVANSSANSSPS	9.0	5.0	-	-	4000_5:56234786-56234786 G>A_DLLAFYGYEPTILAVANSSANSSPS
17:60753853-60753853 G>A	0.0	4000	MELANOMA	-	-	-	-	MRC2	ENST00000303375,p.D599N|NM_006039,p.D599N|uc002jad.4,p.D599N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jad.4	nonsynonymous SNV	exon11	c.G1795A	p.D599N	LNSTGSFFWLSGDEVMYTHWNRDQP	LNSTGSFFWLSGNEVMYTHWNRDQP	7.0	6.0	unscreened	-	4000_17:60753853-60753853 G>A_LNSTGSFFWLSGNEVMYTHWNRDQP
7:13971334-13971334 G>A	1.0	4000	MELANOMA	-	-	-	1	ETV1	ENST00000443137,p.P199S|ENST00000420159,p.P141S|uc010ktv.3,p.P68S|NM_001163150,p.P159S|uc022aaa.1,p.P181S|ENST00000403527,p.P159S|ENST00000403685,p.P181S|uc022aac.1,p.P181S|NM_001163151,p.P141S|uc003ssw.4,p.P199S|ENST00000405358,p.P213S|ENST00000405218,p.P199S|ENST00000242066,p.P181S|ENST00000443608,p.P96S|uc021zzx.1,p.P96S|ENST00000430479,p.P199S|uc021zzy.1,p.P141S|uc021zzz.1,p.P199S|ENST00000438956,p.P141S|uc022aab.1,p.P199S|ENST00000343495,p.P181S|uc021zzv.1,p.P141S|ENST00000405192,p.P199S|NM_004956,p.P199S|uc021zzw.1,p.P159S|uc021zzu.1,p.P96S|uc022aad.1,p.P181S|uc021zzt.1,p.P159S|NM_001163149,p.P181S|NM_001163148,p.P181S|ENST00000399357,p.P96S|NM_001163147,p.P199S|NM_001163152,p.P96S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022aad.1	nonsynonymous SNV	exon8	c.C541T	p.P181S	RRQLSEPCNSFPPLPTMPREGRPMY	RRQLSEPCNSFPSLPTMPREGRPMY	10.0	6.0	-	-	4000_7:13971334-13971334 G>A_RRQLSEPCNSFPSLPTMPREGRPMY
13:35615209-35615209 G>A	1.0	4000	MELANOMA	-	-	-	2	NBEA	ENST00000379939,p.R145Q|ENST00000310336,p.R145Q|uc021ric.1,p.R145Q|NM_015678,p.R145Q|ENST00000400445,p.R145Q|uc021rid.1,p.R145Q|ENST00000540320,p.R145Q	protein_coding, processed_transcript	uc021rid.1	nonsynonymous SNV	exon2	c.G434A	p.R145Q	QAEIWSMFTAILRKSVRNLQTSTEV	QAEIWSMFTAILQKSVRNLQTSTEV	6.0	4.0	-	-	4000_13:35615209-35615209 G>A_QAEIWSMFTAILQKSVRNLQTSTEV
22:28269751-28269751 C>T	1.0	4000	MELANOMA	-	-	-	-	PITPNB	ENST00000415296,p.R97K|NM_012399,p.R170K|NM_001284278,p.R172K|ENST00000455418,p.R172K|ENST00000335272,p.R170K|ENST00000320996,p.R170K|uc011akh.2,p.R172K|uc003adl.3,p.R170K|uc003adk.3,p.R170K|NM_001284277,p.R170K	retained_intron, protein_coding	uc011akh.2	nonsynonymous SNV	exon8	c.G515A	p.R172K	EDPALFQSVKTKRGPLGPNWKKELA	EDPALFQSVKTKKGPLGPNWKKELA	9.0	7.0	-	-	4000_22:28269751-28269751 C>T_EDPALFQSVKTKKGPLGPNWKKELA
16:58568248-58568248 G>A	1.0	4000	MELANOMA	-	-	-	-	CNOT1	uc002enu.5,p.R1895C|NM_016284,p.R1900C|ENST00000568917,p.R280C|ENST00000317147,p.R1900C|uc002env.4,p.R1900C|uc010vik.3,p.R857C|ENST00000245138,p.R751C|ENST00000567188,p.R1895C|ENST00000569240,p.R1895C|NM_001265612,p.R1895C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vik.3	nonsynonymous SNV	exon17	c.C2569T	p.R857C	ILKTDDLITRFFRLCTEMCVEISYR	ILKTDDLITRFFCLCTEMCVEISYR	10.0	8.0	-	-	4000_16:58568248-58568248 G>A_ILKTDDLITRFFCLCTEMCVEISYR
1:75172036-75172036 G>A	1.0	4000	MELANOMA	-	-	-	-	CRYZ	NM_001130042,p.H312Y|NM_001130043,p.H278Y|NM_001889,p.H312Y|NM_001134759,p.H175Y|uc001dgm.3,p.H175Y|ENST00000370871,p.H278Y|ENST00000417775,p.H312Y|ENST00000340866,p.H312Y|uc001dgk.3,p.H312Y|uc001dgl.3,p.H278Y|uc001dgj.3,p.H312Y|ENST00000370872,p.H175Y	protein_coding, processed_transcript	uc001dgm.3	nonsynonymous SNV	exon7	c.C523T	p.H175Y	GSQYPLEKVAEAHENIIHGSGATGK	GSQYPLEKVAEAYENIIHGSGATGK	7.0	7.0	-	-	4000_1:75172036-75172036 G>A_GSQYPLEKVAEAYENIIHGSGATGK
12:7656250-7656250 C>T	0.0	4000	MELANOMA	-	-	-	-	CD163	uc001qsz.3,p.G13R|ENST00000432237,p.G13R|NM_203416,p.G13R|NM_004244,p.G13R|uc009zfw.2,p.G13R|ENST00000359156,p.G13R|ENST00000396620,p.G13R|uc001qta.3,p.G13R	retained_intron, protein_coding, processed_transcript	uc009zfw.2	nonsynonymous SNV	exon1	c.G37A	p.G13R	MSKLRMVLLEDSGSADFRRHFVNLS	MSKLRMVLLEDSRSADFRRHFVNLS	10.0	7.0	unscreened	-	4000_12:7656250-7656250 C>T_MSKLRMVLLEDSRSADFRRHFVNLS
4:187627767-187627767 G>A	1.0	4000	MELANOMA	-	-	-	1	FAT1	uc010iso.1,p.S1072F|uc003izf.3,p.S1072F|ENST00000441802,p.S1072F|NM_005245,p.S1072F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010iso.1	nonsynonymous SNV	exon2	c.C3215T	p.S1072F	DEDARRDGEIRYSIRDGSGVGVFKI	DEDARRDGEIRYFIRDGSGVGVFKI	10.0	6.0	-	-	4000_4:187627767-187627767 G>A_DEDARRDGEIRYFIRDGSGVGVFKI
5:36679902-36679902 C>G	0.0	4000	MELANOMA	-	-	-	-	SLC1A3	uc003jkj.4,p.P345R|uc011cox.2,p.P238R|NM_001289939,p.P299R|ENST00000381918,p.P345R|ENST00000265113,p.P345R|NM_001289940,p.P233R|uc010iuy.3,p.P345R|NM_001166695,p.P345R|NM_004172,p.P345R	retained_intron, protein_coding, processed_transcript	uc011cox.2	nonsynonymous SNV	exon6	c.C713G	p.P238R	LPLLYFLVTRKNPWVFIGGLLQALI	LPLLYFLVTRKNRWVFIGGLLQALI	10.0	9.0	unscreened	-	4000_5:36679902-36679902 C>G_LPLLYFLVTRKNRWVFIGGLLQALI
4:80976530-80976530 G>A	1.0	4000	MELANOMA	-	-	-	-	ANTXR2	uc010ijn.3,p.S157L|ENST00000307333,p.S157L|NM_001286781,p.S80L|uc003hlz.4,p.S157L|NM_001286780,p.S80L|ENST00000449651,p.S80L|NM_058172,p.S157L|NM_001145794,p.S157L|uc003hly.4,p.S157L|ENST00000404191,p.S80L|ENST00000346652,p.S157L|ENST00000403729,p.S157L|ENST00000295465,p.S157L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ijn.3	nonsynonymous SNV	exon5	c.C470T	p.S157L	ALTDGKLDGLVPSYAEKEAKISRSL	ALTDGKLDGLVPLYAEKEAKISRSL	8.0	7.0	-	-	4000_4:80976530-80976530 G>A_ALTDGKLDGLVPLYAEKEAKISRSL
5:180486627-180486627 G>A	0.0	4000	MELANOMA	-	-	-	-	BTNL9	NM_152547,p.G458E|ENST00000376842,p.G459E|uc003mmt.3,p.G458E|ENST00000327705,p.G458E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003mmt.3	nonsynonymous SNV	exon11	c.G1373A	p.G458E	PRRLGVFLDYEAGELSFFNVSDGSH	PRRLGVFLDYEAEELSFFNVSDGSH	5.0	4.0	unscreened	-	4000_5:180486627-180486627 G>A_PRRLGVFLDYEAEELSFFNVSDGSH
14:95569966-95569966 G>A	1.0	4000	MELANOMA	-	-	-	1	DICER1	ENST00000527414,p.P1256L|NM_001291628,p.P1256L|ENST00000343455,p.P1256L|uc001ydw.2,p.P1256L|uc021sbd.1,p.P538L|uc001ydv.3,p.P1256L|NM_001195573,p.P1256L|ENST00000556045,p.P154L|ENST00000526495,p.P1256L|ENST00000393063,p.P1256L|ENST00000541352,p.P1256L|NM_001271282,p.P1256L|NM_177438,p.P1256L|uc001ydx.2,p.P1256L|NM_030621,p.P1256L|uc001ydy.1,p.P108L|uc021sbc.1,p.P1256L|uc010avh.1,p.P154L	retained_intron, protein_coding, processed_transcript	uc021sbd.1	nonsynonymous SNV	exon8	c.C1613T	p.P538L	DGNANKSTSDGSPVMAVMPGTTDTI	DGNANKSTSDGSLVMAVMPGTTDTI	9.0	6.0	-	-	4000_14:95569966-95569966 G>A_DGNANKSTSDGSLVMAVMPGTTDTI
6:24460517-24460517 G>A	0.0	4000	MELANOMA	-	-	ID=COSM1696962;OCCURENCE=1(skin)	-	GPLD1	uc010jps.1,p.S333F|uc010jpr.1,p.S170F|NM_001503,p.S333F|ENST00000230036,p.S333F|uc003ned.2,p.S333F	retained_intron, protein_coding, processed_transcript	uc010jps.1	nonsynonymous SNV	exon12	c.C998T	p.S333F	NYTERGVFFSVNSWTPDSMSFIYKA	NYTERGVFFSVNFWTPDSMSFIYKA	5.0	3.0	unscreened	-	4000_6:24460517-24460517 G>A_NYTERGVFFSVNFWTPDSMSFIYKA
19:18775109-18775109 C>T	1.0	4000	MELANOMA	-	-	-	-	KLHL26	ENST00000595182,p.S41L|uc002njz.1,p.S41L|ENST00000300976,p.S41L|ENST00000599006,p.S41L|NM_018316,p.S41L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002njz.1	nonsynonymous SNV	exon2	c.C122T	p.S41L	TADKNGALKCTFSAPSHSTSLLQGL	TADKNGALKCTFLAPSHSTSLLQGL	5.0	6.0	-	-	4000_19:18775109-18775109 C>T_TADKNGALKCTFLAPSHSTSLLQGL
19:55174488-55174488 G>A	0.0	4000	MELANOMA	-	-	-	-	LILRB4	NM_001278429,p.M42I|uc010eru.3,p.M42I	retained_intron, protein_coding, processed_transcript	uc010eru.3	nonsynonymous SNV	exon1	c.G126A	p.M42I	PSAQLGPLGGDAMIPTFTALLCLGP	PSAQLGPLGGDAIIPTFTALLCLGP	9.0	9.0	unscreened	-	4000_19:55174488-55174488 G>A_PSAQLGPLGGDAIIPTFTALLCLGP
19:55174488-55174488 G>A	0.0	4000	MELANOMA	-	-	-	-	LILRB4	uc002qgo.1,p.M42I|uc010ert.3,p.M42I	retained_intron, protein_coding, processed_transcript	uc010ert.3	nonsynonymous SNV	exon1	c.G126A	p.M42I	PSAQLGPLGGDAMIPTFTALLCLGL	PSAQLGPLGGDAIIPTFTALLCLGL	9.0	9.0	unscreened	-	4000_19:55174488-55174488 G>A_PSAQLGPLGGDAIIPTFTALLCLGL
12:113402091-113402091 G>A	1.0	4000	MELANOMA	-	-	-	-	OAS3	ENST00000228928,p.E761K|NM_006187,p.E761K|uc001tug.3,p.E761K	retained_intron, protein_coding, processed_transcript	uc001tug.3	nonsynonymous SNV	exon11	c.G2281A	p.E761K	QTPAGDLDKFISEFLQPNRQFLAQV	QTPAGDLDKFISKFLQPNRQFLAQV	9.0	10.0	-	-	4000_12:113402091-113402091 G>A_QTPAGDLDKFISKFLQPNRQFLAQV
4:101953517-101953517 C>T	1.0	4000	MELANOMA	-	-	-	-	PPP3CA	NM_001130692,p.E374K|uc011cen.1,p.E416K|NM_000944,p.E416K|ENST00000507176,p.E318K|uc010ilk.2,p.E184K|ENST00000394853,p.E416K|ENST00000394854,p.E416K|uc003hvt.2,p.E403K|ENST00000512215,p.E184K|ENST00000523694,p.E349K|ENST00000323055,p.E374K|uc003hvu.2,p.E416K|NM_001130691,p.E416K|uc003hvs.2,p.E349K|uc010ilj.2,p.E374K	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cen.1	nonsynonymous SNV	exon12	c.G1246A	p.E416K	GKMARVFSVLREESESVLTLKGLTP	GKMARVFSVLREKSESVLTLKGLTP	9.0	4.0	-	-	4000_4:101953517-101953517 C>T_GKMARVFSVLREKSESVLTLKGLTP
7:142658919-142658919 C>T	0.0	4000	MELANOMA	-	-	-	-	KEL	ENST00000476829,p.S15N|NM_000420,p.S15N|ENST00000355265,p.S15N|uc003wcb.3,p.S15N	retained_intron, protein_coding, processed_transcript	uc003wcb.3	nonsynonymous SNV	exon2	c.G44A	p.S15N	GGDQSEEEPRERSQAGGMGTLWSQE	GGDQSEEEPRERNQAGGMGTLWSQE	6.0	2.0	unscreened	-	4000_7:142658919-142658919 C>T_GGDQSEEEPRERNQAGGMGTLWSQE
7:150325700-150325700 G>A	0.0	4000	MELANOMA	-	-	-	-	GIMAP6	uc022apv.1,p.P66S|uc031szs.1,p.P18S|NM_001244072,p.P66S	protein_coding	uc031szs.1	nonsynonymous SNV	exon2	c.C52T	p.P18S	WFQGRCWSFTICPCSLGVHPEAPGD	WFQGRCWSFTICSCSLGVHPEAPGD	8.0	2.0	unscreened	-	4000_7:150325700-150325700 G>A_WFQGRCWSFTICSCSLGVHPEAPGD
14:33015058-33015058 C>T	1.0	4000	MELANOMA	-	-	-	-	AKAP6	uc001wrq.3,p.T400I|ENST00000557354,p.T400I|ENST00000553547,p.T158I|ENST00000557272,p.T400I|NM_004274,p.T400I|ENST00000280979,p.T400I|uc010aml.3,p.T397I	retained_intron, protein_coding, processed_transcript	uc010aml.3	nonsynonymous SNV	exon4	c.C1190T	p.T397I	TLPKRGLFLKEETFKNDLKGNGGKR	TLPKRGLFLKEEIFKNDLKGNGGKR	9.0	8.0	-	-	4000_14:33015058-33015058 C>T_TLPKRGLFLKEEIFKNDLKGNGGKR
1:171526655-171526655 C>T	1.0	4000	MELANOMA	-	-	-	-	PRRC2C	ENST00000338920,p.P1800S|ENST00000392078,p.P1802S|ENST00000367742,p.P1802S|uc010pmg.2,p.P1800S|ENST00000426496,p.P1800S|uc010pmh.2,p.P777S|NM_015172,p.P1800S	retained_intron, protein_coding, processed_transcript	uc010pmh.2	nonsynonymous SNV	exon4	c.C2329T	p.P777S	STLAPVLASTSAPVPASPLAPVSAS	STLAPVLASTSASVPASPLAPVSAS	10.0	8.0	-	-	4000_1:171526655-171526655 C>T_STLAPVLASTSASVPASPLAPVSAS
3:52584833-52584833 C>T	1.0	4000	MELANOMA	-	-	-	1	PBRM1	ENST00000356770,p.G1450D|ENST00000296302,p.G1537D|ENST00000394830,p.G1430D|uc003der.2,p.G1450D|NM_018313,p.G1430D|uc003dey.2,p.G1430D|ENST00000409057,p.G1482D|uc003dew.2,p.G1482D|uc003des.2,p.G1537D|ENST00000410007,p.G1457D|uc010hmk.1,p.G1457D	retained_intron, protein_coding, nonsense_mediated_decay	uc010hmk.1	nonsynonymous SNV	exon27	c.G4370A	p.G1457D	PGVPGLPGIPPPGVMNQGVAPMVGT	PGVPGLPGIPPPDVMNQGVAPMVGT	9.0	4.0	-	-	4000_3:52584833-52584833 C>T_PGVPGLPGIPPPDVMNQGVAPMVGT
8:144681971-144681971 A>T	1.0	4000	MELANOMA	-	-	-	-	TIGD5	NM_032862,p.H633L|ENST00000504548,p.H633L|ENST00000321385,p.H584L|uc003yyx.2,p.H633L	protein_coding	uc003yyx.2	nonsynonymous SNV	exon1	c.A1898T	p.H633L	LISMARRLGGIGHTPAGPYDGV	LISMARRLGGIGLTPAGPYDGV	5.0	1.0	-	-	4000_8:144681971-144681971 A>T_LISMARRLGGIGLTPAGPYDGV
9:88940312-88940312 G>A	1.0	4000	MELANOMA	-	-	-	-	ZCCHC6	uc004aou.3,p.R576C|ENST00000375963,p.R576C|NM_001185059,p.R576C|ENST00000375960,p.R453C|ENST00000375961,p.R576C|NM_024617,p.R576C|NM_001185074,p.R453C|uc004aot.3,p.R453C|uc004aoq.3,p.R576C	protein_coding, processed_transcript	uc004aou.3	nonsynonymous SNV	exon12	c.C1726T	p.R576C	LEFNLADLVISIRVKELVSRELKDW	LEFNLADLVISICVKELVSRELKDW	9.0	10.0	-	-	4000_9:88940312-88940312 G>A_LEFNLADLVISICVKELVSRELKDW
14:81574915-81574915 G>A	1.0	4000	MELANOMA	-	-	-	1	TSHR	NM_001142626,p.G239S|uc010tvs.2,p.G239S|ENST00000554435,p.G239S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tvs.2	nonsynonymous SNV	exon9	c.G715A	p.G239S	GPSLLVENVAVSGKGFCKSLFSWLY	GPSLLVENVAVSSKGFCKSLFSWLY	5.0	8.0	-	-	4000_14:81574915-81574915 G>A_GPSLLVENVAVSSKGFCKSLFSWLY
14:32563354-32563354 T>C	1.0	4000	MELANOMA	-	-	-	2	ARHGAP5	NM_001173,p.L1160S|uc001wrm.3,p.L1160S|ENST00000539826,p.L1160S|ENST00000432921,p.L1160S|ENST00000345122,p.L1160S|ENST00000556611,p.L1160S|uc001wrl.3,p.L1160S|NM_001030055,p.L1160S|uc001wrn.3,p.L1160S	retained_intron, protein_coding, nonsense_mediated_decay	uc001wrn.3	nonsynonymous SNV	exon2	c.T3479C	p.L1160S	RRPSKYKYKSKTLFSKAKSYYRRTH	RRPSKYKYKSKTSFSKAKSYYRRTH	10.0	9.0	-	-	4000_14:32563354-32563354 T>C_RRPSKYKYKSKTSFSKAKSYYRRTH
2:219520987-219520987 G>A	1.0	4000	MELANOMA	-	-	-	-	ZNF142	ENST00000449707,p.P56S|uc002vin.4,p.P56S|ENST00000411696,p.P56S|NM_001105537,p.P56S|ENST00000450765,p.P56S|ENST00000433921,p.P56S	protein_coding, nonsense_mediated_decay	uc002vin.4	nonsynonymous SNV	exon4	c.C166T	p.P56S	CPSRDPAPIPTEPGCLLVEATATEE	CPSRDPAPIPTESGCLLVEATATEE	7.0	1.0	-	-	4000_2:219520987-219520987 G>A_CPSRDPAPIPTESGCLLVEATATEE
2:179636144-179636144 G>A	0.0	4000	MELANOMA	-	-	-	-	TTN	uc002unb.3,p.A2637V|ENST00000589042,p.A2637V|ENST00000342992,p.A2637V|NM_003319,p.A2591V|uc031rqd.1,p.A2637V|uc021vta.2,p.A2591V|NM_001256850,p.A2637V|ENST00000591111,p.A2637V|uc021vsz.2,p.A2591V|NM_001267550,p.A2637V|uc021vsy.2,p.A2637V|uc021vtb.2,p.A2591V|ENST00000360870,p.A2637V|ENST00000359218,p.A2591V|NM_133378,p.A2637V|ENST00000342175,p.A2591V|ENST00000460472,p.A2591V|NM_133437,p.A2591V|NM_133432,p.A2591V|NM_133379,p.A2637V|uc031rqc.1,p.A2637V	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon34	c.C7910T	p.A2637V	PLTDQTVAESQEAVFECEVANPDSK	PLTDQTVAESQEVVFECEVANPDSK	6.0	4.0	unscreened	-	4000_2:179636144-179636144 G>A_PLTDQTVAESQEVVFECEVANPDSK
19:24010534-24010534 C>T	0.0	4000	MELANOMA	-	-	-	-	RPSAP58	ENST00000354585,p.R191C|uc002nrn.3,p.R191C|ENST00000496398,p.R191C	protein_coding, processed_transcript	uc002nrn.3	nonsynonymous SNV	exon4	c.C571T	p.R191C	AREVLRMRGTISREHPWEVMPDLYF	AREVLRMRGTISCEHPWEVMPDLYF	8.0	10.0	unscreened	-	4000_19:24010534-24010534 C>T_AREVLRMRGTISCEHPWEVMPDLYF
4:110394181-110394181 C>T	1.0	4000	MELANOMA	-	-	-	-	SEC24B	NM_001042734,p.P300L|ENST00000399100,p.P300L|uc003hzk.3,p.P300L|ENST00000265175,p.P300L|ENST00000504968,p.P331L|NM_001300813,p.P331L|uc003hzl.3,p.P300L|uc011cfq.2,p.P300L|uc011cfp.2,p.P331L|NM_006323,p.P300L|uc011cfr.2,p.P300L	protein_coding	uc011cfr.2	nonsynonymous SNV	exon3	c.C899T	p.P300L	NPTITVADSLSCPVMQNVQPPKSSP	NPTITVADSLSCLVMQNVQPPKSSP	9.0	2.0	-	-	4000_4:110394181-110394181 C>T_NPTITVADSLSCLVMQNVQPPKSSP
14:76432032-76432032 T>C	0.0	4000	MELANOMA	-	-	-	-	TGFB3	ENST00000238682,p.N218S|ENST00000556285,p.N218S|NM_003239,p.N218S|uc001xsd.3,p.N216S|uc001xsc.2,p.N218S	retained_intron, protein_coding, processed_transcript	uc001xsd.3	nonsynonymous SNV	exon4	c.A647G	p.N216S	DTVREWLLRRESNLGLEISIHCPCH	DTVREWLLRRESSLGLEISIHCPCH	7.0	9.0	unscreened	-	4000_14:76432032-76432032 T>C_DTVREWLLRRESSLGLEISIHCPCH
16:19490826-19490826 C>T	0.0	4000	MELANOMA	-	-	-	-	TMC5	uc002dgd.1,p.S502F|uc002dgc.4,p.S748F|ENST00000381414,p.S748F|NM_001105248,p.S748F|ENST00000541464,p.S696F|uc002dge.4,p.S502F|ENST00000219821,p.S502F|uc002dgf.4,p.S431F|NM_001105249,p.S748F|ENST00000561503,p.S389F|uc002dgb.4,p.S748F|uc002dgg.4,p.S389F|uc010vaq.2,p.S696F|uc010var.2,p.S748F|NM_001261841,p.S748F|ENST00000542583,p.S748F|ENST00000564959,p.S431F|ENST00000396229,p.S748F|NM_024780,p.S502F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010var.2	nonsynonymous SNV	exon14	c.C2243T	p.S748F	LLLMDFVFSLVNSFLGEFLRRIIGM	LLLMDFVFSLVNFFLGEFLRRIIGM	7.0	7.0	unscreened	-	4000_16:19490826-19490826 C>T_LLLMDFVFSLVNFFLGEFLRRIIGM
12:21242843-21242843 A>G	0.0	4000	MELANOMA	-	-	-	-	SLCO1B7	ENST00000593147,p.R79G	protein_coding,nonsense_mediated_decay, nonsense_mediated_decay, processed_transcript	ENST00000593147	nonsynonymous SNV	exon4	c.A235G	p.R79G	GACRIYNSTYLGRAFFGLKYLLGMR	GACRIYNSTYLGGAFFGLKYLLGMR	1.0	8.0	unscreened	-	4000_12:21242843-21242843 A>G_GACRIYNSTYLGGAFFGLKYLLGMR
5:109974042-109974042 G>A	1.0	4000	MELANOMA	-	-	-	-	TMEM232	ENST00000511883,p.L120F|ENST00000429839,p.L120F|ENST00000515278,p.L120F|ENST00000455884,p.L120F|uc011cvh.2,p.L120F|NM_001039763,p.L120F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cvh.2	nonsynonymous SNV	exon5	c.C358T	p.L120F	CKGEIQDESLNMLYASLDHASFDYD	CKGEIQDESLNMFYASLDHASFDYD	5.0	8.0	-	-	4000_5:109974042-109974042 G>A_CKGEIQDESLNMFYASLDHASFDYD
5:74893584-74893584 G>A	1.0	4000	MELANOMA	-	-	-	-	POLK	ENST00000352007,p.G635E|NM_016218,p.G833E|uc003kec.3,p.G743E|ENST00000508526,p.G635E|ENST00000241436,p.G833E|ENST00000380481,p.G743E|uc003kdw.3,p.G833E|uc010izq.3,p.G635E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010izq.3	nonsynonymous SNV	exon8	c.G1904A	p.G635E	PKESSRSTGSSSGVQKAVTRTKRPG	PKESSRSTGSSSEVQKAVTRTKRPG	10.0	1.0	-	-	4000_5:74893584-74893584 G>A_PKESSRSTGSSSEVQKAVTRTKRPG
14:20766978-20766978 G>A	1.0	4000	MELANOMA	-	-	-	-	TTC5	NM_138376,p.A206V|uc001vwu.3,p.A63V|uc001vwt.3,p.A206V|ENST00000258821,p.A206V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001vwu.3	nonsynonymous SNV	exon5	c.C188T	p.A63V	FSTGQNPKISQQALSAYAQAEKVDR	FSTGQNPKISQQVLSAYAQAEKVDR	7.0	3.0	-	-	4000_14:20766978-20766978 G>A_FSTGQNPKISQQVLSAYAQAEKVDR
19:42085957-42085957 G>A	0.0	4000	MELANOMA	0.0005	-	-	-	CEACAM21	NM_033543,p.D226N|uc002org.4,p.D226N|ENST00000187608,p.D226N|NM_001290113,p.D98N	protein_coding, processed_transcript, nonsense_mediated_decay	uc002org.4	nonsynonymous SNV	exon3	c.G676A	p.D226N	CEVSNPVSSNRSDPLKLTVKYDNTL	CEVSNPVSSNRSNPLKLTVKYDNTL	7.0	10.0	unscreened	-	4000_19:42085957-42085957 G>A_CEVSNPVSSNRSNPLKLTVKYDNTL
6:47779459-47779459 C>T	0.0	4000	MELANOMA	-	-	-	-	OPN5	uc003ozc.3,p.H350Y|NM_181744,p.H350Y|uc003ozd.3,p.H185Y|ENST00000371211,p.H350Y	protein_coding, processed_transcript	uc003ozd.3	nonsynonymous SNV	exon6	c.C553T	p.H185Y	TTVRKSSAVLEIHEEWE	TTVRKSSAVLEIYEEWE	1.0	2.0	unscreened	-	4000_6:47779459-47779459 C>T_TTVRKSSAVLEIYEEWE
3:46062821-46062821 C>T	0.0	4000	MELANOMA	-	-	-	-	XCR1	uc003cpf.3,p.E207K|uc003cpe.3,p.E207K|ENST00000542109,p.E207K|ENST00000309285,p.E207K|uc021wwx.1,p.E207K|NM_001024644,p.E207K|NM_005283,p.E207K	protein_coding	uc021wwx.1	nonsynonymous SNV	exon1	c.G619A	p.E207K	LLSLGIILFCYVEILRTLFRSRSKR	LLSLGIILFCYVKILRTLFRSRSKR	6.0	7.0	unscreened	-	4000_3:46062821-46062821 C>T_LLSLGIILFCYVKILRTLFRSRSKR
14:20296445-20296445 C>T	0.0	4000	MELANOMA	-	-	ID=COSM1707068;OCCURENCE=1(skin)	-	OR4N2	ENST00000315947,p.P280S|uc010tkv.2,p.P280S|NM_001004723,p.P280S	protein_coding	uc010tkv.2	nonsynonymous SNV	exon1	c.C838T	p.P280S	DKVVSLFHTVIFPLLNPVIYTLRNQ	DKVVSLFHTVIFSLLNPVIYTLRNQ	1.0	6.0	unscreened	-	4000_14:20296445-20296445 C>T_DKVVSLFHTVIFSLLNPVIYTLRNQ
4:2829380-2829380 C>T	1.0	4000	MELANOMA	-	-	-	-	SH3BP2	uc003gfj.4,p.P246S|ENST00000511747,p.P189S|ENST00000435136,p.P189S|uc003gfl.4,p.P122S|ENST00000442312,p.P217S|NM_001145856,p.P246S|uc003gfk.4,p.P189S|ENST00000452765,p.P189S|ENST00000356331,p.P189S|NM_003023,p.P189S|uc011bvp.2,p.P217S|uc003gfi.4,p.P189S|NM_001145855,p.P217S|uc003gfm.4,p.P164S|ENST00000503393,p.P246S|NM_001122681,p.P189S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bvp.2	nonsynonymous SNV	exon7	c.C649T	p.P217S	DDEDDSYLEPDSPEPGRLEDALMHP	DDEDDSYLEPDSSEPGRLEDALMHP	9.0	7.0	unscreened	-	4000_4:2829380-2829380 C>T_DDEDDSYLEPDSSEPGRLEDALMHP
11:124253040-124253040 G>A	0.0	4000	MELANOMA	-	-	-	-	OR8B2	ENST00000375013,p.S67F|NM_001005468,p.S67F|uc010sai.2,p.S67F	protein_coding	uc010sai.2	nonsynonymous SNV	exon1	c.C200T	p.S67F	LHTPMYYFLFNLSFIDLCYSSVFTP	LHTPMYYFLFNLFFIDLCYSSVFTP	1.0	10.0	unscreened	-	4000_11:124253040-124253040 G>A_LHTPMYYFLFNLFFIDLCYSSVFTP
10:75608316-75608316 G>A	1.0	4000	MELANOMA	-	-	-	-	CAMK2G	ENST00000351293,p.P190L|ENST00000372765,p.P190L|ENST00000305762,p.P190L|uc001jvv.2,p.P182L|uc001jvs.2,p.P190L|ENST00000423381,p.P190L|NM_172173,p.P190L|uc001jvo.2,p.P190L|ENST00000322635,p.P190L|ENST00000394762,p.P190L|uc001jvq.2,p.P190L|NM_172169,p.P190L|uc001jvr.2,p.P190L|uc001jvp.2,p.P190L|NM_001204492,p.P190L|NM_172170,p.P190L|NM_172171,p.P190L|uc001jvm.2,p.P190L|ENST00000433289,p.P125L|ENST00000322680,p.P190L|NM_001222,p.P190L	protein_coding, processed_transcript	uc001jvv.2	nonsynonymous SNV	exon8	c.C545T	p.P182L	PGYLSPEVLRKDPYGKPVDIWACGV	PGYLSPEVLRKDLYGKPVDIWACGV	8.0	8.0	unscreened	-	4000_10:75608316-75608316 G>A_PGYLSPEVLRKDLYGKPVDIWACGV
8:48792099-48792099 G>A	1.0	4000	MELANOMA	-	-	-	-	PRKDC	ENST00000338368,p.P1729S|ENST00000314191,p.P1729S	retained_intron, protein_coding, processed_transcript	ENST00000338368	nonsynonymous SNV	exon40	c.C5185T	p.P1729S	IVAHFPMQSREFPPGTPRFNNYVDC	IVAHFPMQSREFSPGTPRFNNYVDC	10.0	2.0	-	-	4000_8:48792099-48792099 G>A_IVAHFPMQSREFSPGTPRFNNYVDC
7:138968739-138968739 C>T	1.0	4000	MELANOMA	-	-	ID=COSM3735766,COSM3735767;OCCURENCE=1(skin)	-	UBN2	ENST00000288561,p.P947S|ENST00000473989,p.P1030S|NM_173569,p.P1030S|uc011kqr.2,p.P1030S	protein_coding	uc011kqr.2	nonsynonymous SNV	exon15	c.C3088T	p.P1030S	MVSQISTQGFKSPFSMAASPKLAAS	MVSQISTQGFKSSFSMAASPKLAAS	8.0	2.0	-	-	4000_7:138968739-138968739 C>T_MVSQISTQGFKSSFSMAASPKLAAS
4:9943669-9943669 C>T	0.0	4000	MELANOMA	-	-	-	-	SLC2A9	uc003gmc.3,p.E228K|NM_020041,p.E228K|ENST00000309065,p.E199K|NM_001001290,p.E199K|ENST00000264784,p.E228K|ENST00000506583,p.E199K|uc003gmd.3,p.E199K	protein_coding, processed_transcript	uc003gmd.3	nonsynonymous SNV	exon7	c.G595A	p.E199K	GQLLGLPELLGKESTWPYLFGVIVV	GQLLGLPELLGKKSTWPYLFGVIVV	6.0	9.0	unscreened	-	4000_4:9943669-9943669 C>T_GQLLGLPELLGKKSTWPYLFGVIVV
12:21242843-21242843 A>G	0.0	4000	MELANOMA	-	-	-	-	SLCO1B7	ENST00000545916,p.R85G	protein_coding,nonsense_mediated_decay, nonsense_mediated_decay, processed_transcript	ENST00000545916	nonsynonymous SNV	exon4	c.A253G	p.R85G	GACRIYNSTYLGRAFFGLKVDSMPW	GACRIYNSTYLGGAFFGLKVDSMPW	1.0	8.0	unscreened	-	4000_12:21242843-21242843 A>G_GACRIYNSTYLGGAFFGLKVDSMPW
12:7640497-7640497 C>T	0.0	4000	MELANOMA	-	-	-	-	CD163	uc001qta.3,p.G536E|uc009zfw.2,p.G536E|ENST00000432237,p.G536E|ENST00000359156,p.G536E|ENST00000396620,p.G536E|ENST00000541972,p.G524E|NM_203416,p.G536E|NM_004244,p.G536E|uc001qsz.3,p.G536E	retained_intron, protein_coding, processed_transcript	uc009zfw.2	nonsynonymous SNV	exon7	c.G1607A	p.G536E	VVSILGGAHFGEGNGQIWAEEFQCE	VVSILGGAHFGEENGQIWAEEFQCE	10.0	8.0	unscreened	-	4000_12:7640497-7640497 C>T_VVSILGGAHFGEENGQIWAEEFQCE
9:35802530-35802530 C>T	1.0	4000	MELANOMA	-	-	-	-	NPR2	uc010mlb.3,p.R581C|ENST00000342694,p.R581C|NM_003995,p.R581C|uc003zyd.3,p.R581C	retained_intron, protein_coding, nonsense_mediated_decay	uc010mlb.3	nonsynonymous SNV	exon11	c.C1741T	p.R581C	KHMRDVQFNHLTRFIGACIDPPNIC	KHMRDVQFNHLTCFIGACIDPPNIC	6.0	1.0	-	-	4000_9:35802530-35802530 C>T_KHMRDVQFNHLTCFIGACIDPPNIC
3:36897228-36897228 C>T	0.0	4000	MELANOMA	-	-	ID=COSM327898,COSM327899,COSM327900;OCCURENCE=1(skin)	-	TRANK1	uc003cgj.3,p.E1285K|ENST00000429976,p.E1285K|ENST00000428977,p.E735K|ENST00000301807,p.E735K|NM_014831,p.E1285K	protein_coding, processed_transcript	uc003cgj.3	nonsynonymous SNV	exon12	c.G3853A	p.E1285K	PRVYVTFEVFKNEIWPKMTKGRTAY	PRVYVTFEVFKNKIWPKMTKGRTAY	8.0	7.0	unscreened	-	4000_3:36897228-36897228 C>T_PRVYVTFEVFKNKIWPKMTKGRTAY
3:44364703-44364703 C>T	0.0	4000	MELANOMA	-	-	-	-	TOPAZ1	ENST00000309765,p.P1531S|NM_001145030,p.P1531S|uc003cna.4,p.P1531S	protein_coding	uc003cna.4	nonsynonymous SNV	exon18	c.C4591T	p.P1531S	SSVAEFMISKSIPIDFSFLRRLITS	SSVAEFMISKSISIDFSFLRRLITS	1.0	3.0	unscreened	-	4000_3:44364703-44364703 C>T_SSVAEFMISKSISIDFSFLRRLITS
1:156715098-156715098 G>A	1.0	4000	MELANOMA	-	-	-	-	HDGF	ENST00000416666,p.T20I|ENST00000368206,p.T68I|ENST00000357325,p.T52I|uc009wsf.3,p.T20I|uc009wsd.3,p.T20I|NM_001126051,p.T45I|uc010phr.2,p.T68I|uc009wse.3,p.T68I|ENST00000537739,p.T52I|ENST00000368209,p.T45I|NM_001126050,p.T68I|uc001fpy.4,p.T52I|uc001fpz.4,p.T45I|NM_004494,p.T52I	protein_coding, processed_transcript	uc010phr.2	nonsynonymous SNV	exon2	c.C203T	p.T68I	STANKYQVFFFGTHETAFLGPKDLF	STANKYQVFFFGIHETAFLGPKDLF	9.0	2.0	-	-	4000_1:156715098-156715098 G>A_STANKYQVFFFGIHETAFLGPKDLF
15:85341835-85341835 C>T	1.0	4000	MELANOMA	-	-	-	-	ZNF592	NM_014630,p.P918L|ENST00000299927,p.P918L|uc002bld.3,p.P918L|ENST00000560079,p.P918L	protein_coding, nonsense_mediated_decay	uc002bld.3	nonsynonymous SNV	exon8	c.C2753T	p.P918L	ELMQHVKSTHGVPRNVDELSSLQSS	ELMQHVKSTHGVLRNVDELSSLQSS	7.0	5.0	-	-	4000_15:85341835-85341835 C>T_ELMQHVKSTHGVLRNVDELSSLQSS
15:52252196-52252196 G>A	1.0	4000	MELANOMA	-	-	-	-	LEO1	ENST00000315141,p.P354S|ENST00000299601,p.P354S|uc002abo.3,p.P354S|NM_138792,p.P354S|uc010bfd.3,p.P354S|NM_001286430,p.P354S	retained_intron, protein_coding	uc010bfd.3	nonsynonymous SNV	exon5	c.C1060T	p.P354S	GLPQDQQEEEPIPETRIEVEIPKVN	GLPQDQQEEEPISETRIEVEIPKVN	8.0	5.0	-	-	4000_15:52252196-52252196 G>A_GLPQDQQEEEPISETRIEVEIPKVN
1:210267705-210267705 G>A	1.0	4000	MELANOMA	-	-	-	-	SYT14	ENST00000367019,p.D161N|uc010pso.3,p.D123N|uc009xcv.4,p.D161N|ENST00000537238,p.D123N|ENST00000472886,p.D161N|NM_001256006,p.D123N|ENST00000422431,p.D206N|NM_001146262,p.D161N|ENST00000534859,p.D161N|NM_001146264,p.D206N|NM_153262,p.D161N|ENST00000399639,p.D161N|uc010psn.3,p.D206N|uc001hhs.5,p.D206N|uc001hht.5,p.D161N|ENST00000367015,p.D123N|NM_001146261,p.D206N	protein_coding, processed_transcript	uc010pso.3	nonsynonymous SNV	exon6	c.G367A	p.D123N	NCIQRMRRTPPLDELQPPPYQDDSG	NCIQRMRRTPPLNELQPPPYQDDSG	7.0	5.0	-	-	4000_1:210267705-210267705 G>A_NCIQRMRRTPPLNELQPPPYQDDSG
15:94841834-94841834 C>T	0.0	4000	MELANOMA	-	-	-	-	MCTP2	uc010bok.3,p.H114Y|NM_018349,p.H114Y|uc002btj.3,p.H114Y|ENST00000543482,p.H114Y|ENST00000451018,p.H114Y|ENST00000357742,p.H114Y|uc010urg.1,p.H114Y|uc002bth.4,p.H114Y|NM_001159643,p.H114Y|ENST00000456504,p.H114Y|uc002bti.2,p.H114Y|uc002btg.4,p.H114Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010urg.1	nonsynonymous SNV	exon2	c.C340T	p.H114Y	ELDWSQEEASHLHVVETDSEEAYAS	ELDWSQEEASHLYVVETDSEEAYAS	6.0	3.0	unscreened	-	4000_15:94841834-94841834 C>T_ELDWSQEEASHLYVVETDSEEAYAS
11:4929075-4929075 T>A	0.0	4000	MELANOMA	-	-	-	-	OR51A7	uc010qyq.2,p.F159Y|NM_001004749,p.F159Y|ENST00000359350,p.F159Y	protein_coding	uc010qyq.2	nonsynonymous SNV	exon1	c.T476A	p.F159Y	ILAIRSILLVIPFPFTLRRLKYCQK	ILAIRSILLVIPYPFTLRRLKYCQK	1.0	8.0	unscreened	-	4000_11:4929075-4929075 T>A_ILAIRSILLVIPYPFTLRRLKYCQK
10:75608317-75608317 G>A	1.0	4000	MELANOMA	-	-	ID=COSM1702648,COSM1702647;OCCURENCE=1(skin)	-	CAMK2G	NM_172170,p.P190S|NM_001222,p.P190S|ENST00000372765,p.P190S|uc001jvr.2,p.P190S|ENST00000394762,p.P190S|ENST00000322635,p.P190S|NM_001204492,p.P190S|uc001jvs.2,p.P190S|ENST00000433289,p.P125S|ENST00000322680,p.P190S|ENST00000423381,p.P190S|uc001jvm.2,p.P190S|uc001jvo.2,p.P190S|uc001jvq.2,p.P190S|NM_172169,p.P190S|uc001jvv.2,p.P182S|NM_172171,p.P190S|NM_172173,p.P190S|ENST00000305762,p.P190S|uc001jvp.2,p.P190S|ENST00000351293,p.P190S	protein_coding, processed_transcript	uc001jvv.2	nonsynonymous SNV	exon8	c.C544T	p.P182S	PGYLSPEVLRKDPYGKPVDIWACGV	PGYLSPEVLRKDSYGKPVDIWACGV	8.0	5.0	unscreened	-	4000_10:75608317-75608317 G>A_PGYLSPEVLRKDSYGKPVDIWACGV
11:55321918-55321918 G>A	0.0	4000	MELANOMA	-	-	-	-	OR4C15	NM_001001920,p.G46R|uc010rig.2,p.G46R|ENST00000314644,p.G46R	protein_coding	uc010rig.2	nonsynonymous SNV	exon1	c.G136A	p.G46R	LCPNCRLYMIPVGAFIFSLGNMQNQ	LCPNCRLYMIPVRAFIFSLGNMQNQ	1.0	3.0	unscreened	-	4000_11:55321918-55321918 G>A_LCPNCRLYMIPVRAFIFSLGNMQNQ
13:31205246-31205246 C>T	1.0	4000	MELANOMA	-	-	-	-	USPL1	ENST00000255304,p.S168F|uc001utc.2,p.S168F|NM_005800,p.S168F	protein_coding, processed_transcript	uc001utc.2	nonsynonymous SNV	exon4	c.C503T	p.S168F	SSGQQNPIRTADSLERNEILEADTV	SSGQQNPIRTADFLERNEILEADTV	7.0	2.0	-	-	4000_13:31205246-31205246 C>T_SSGQQNPIRTADFLERNEILEADTV
2:197854358-197854358 C>T	1.0	4000	MELANOMA	-	-	-	-	ANKRD44	uc021vuj.1,p.G980E|NM_001195144,p.G980E|ENST00000282272,p.G972E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vuj.1	nonsynonymous SNV	exon28	c.G2939A	p.G980E	VLAVDENASRSNGPRSTPGTAVQKE	VLAVDENASRSNEPRSTPGTAVQKE	10.0	2.0	unscreened	-	4000_2:197854358-197854358 C>T_VLAVDENASRSNEPRSTPGTAVQKE
12:7177629-7177629 C>T	1.0	4000	MELANOMA	-	-	-	-	C1S	NM_001734,p.R581C|uc001qsl.3,p.R581C|NM_201442,p.R581C|ENST00000328916,p.R581C|ENST00000360817,p.R581C|ENST00000406697,p.R581C|uc001qsk.3,p.R581C|ENST00000402681,p.R414C|uc001qsj.3,p.R581C|uc009zfr.3,p.R414C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zfr.3	nonsynonymous SNV	exon11	c.C1240T	p.R414C	GWGRTEKRDRAVRLKAARLPVAPLR	GWGRTEKRDRAVCLKAARLPVAPLR	10.0	7.0	-	-	4000_12:7177629-7177629 C>T_GWGRTEKRDRAVCLKAARLPVAPLR
22:38150888-38150888 C>T	1.0	4000	MELANOMA	-	-	-	-	TRIOBP	NM_138632,p.P82L|NM_007032,p.P82L|uc003atw.3,p.P82L|NM_001039141,p.P1795L|uc003atv.3,p.P82L|ENST00000418339,p.P41L|ENST00000403663,p.P82L|ENST00000407319,p.P82L|uc003atr.3,p.P1795L|uc003atu.3,p.P1623L|ENST00000406386,p.P1795L	retained_intron, protein_coding, nonsense_mediated_decay	uc003atw.3	nonsynonymous SNV	exon3	c.C245T	p.P82L	GWMSILDEPGEPPSPSLTTTSTSQW	GWMSILDEPGEPLSPSLTTTSTSQW	9.0	8.0	-	-	4000_22:38150888-38150888 C>T_GWMSILDEPGEPLSPSLTTTSTSQW
19:7509249-7509249 ->T	0.0	4000	MELANOMA	-	-	-	-	ARHGEF18	ENST00000319670,p.A161fs|uc002mgh.3,p.A161fs|uc002mgi.3,p.A319fs|NM_015318,p.A161fs|uc010xjm.1,p.A161fs|ENST00000359920,p.A319fs|NM_001130955,p.A319fs	retained_intron, protein_coding	uc010xjm.1	frameshift insertion	exon6	c.483dupT	p.A161fs	ADDLLETHSHFLARLKERRQESLEE	ADDLLETHSHFLASAQGAPPGVPGGGQ	8.0	10.0	unscreened	-	4000_19:7509249-7509249 ->T_ADDLLETHSHFLASAQGAPPGVPGGGQ
5:40964898-40964898 G>A	0.0	4000	MELANOMA	-	-	-	-	C7	NM_000587,p.G602E|uc003jmh.3,p.G602E|ENST00000313164,p.G602E	retained_intron, protein_coding, processed_transcript	uc003jmh.3	nonsynonymous SNV	exon14	c.G1805A	p.G602E	PVGKNVVYTCNEGYSLIGNPVARCG	PVGKNVVYTCNEEYSLIGNPVARCG	7.0	4.0	unscreened	-	4000_5:40964898-40964898 G>A_PVGKNVVYTCNEEYSLIGNPVARCG
19:17648290-17648290 C>T	0.0	4000	MELANOMA	-	-	-	-	FAM129C	NM_173544,p.T209I|uc021uqj.1,p.T209I|ENST00000332386,p.T209I|ENST00000600519,p.T178I|ENST00000300971,p.T209I|ENST00000335393,p.T209I|ENST00000600871,p.T155I|uc010xps.2,p.T178I|ENST00000599124,p.T178I|ENST00000352727,p.T209I|ENST00000599164,p.T178I|uc021uqi.1,p.T209I|ENST00000601861,p.T178I|ENST00000595684,p.T209I|NM_001098524,p.T209I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021uqj.1	nonsynonymous SNV	exon6	c.C626T	p.T209I	HPFRRHLCFSAATREAQHAWRLALQ	HPFRRHLCFSAAIREAQHAWRLALQ	4.0	5.0	unscreened	-	4000_19:17648290-17648290 C>T_HPFRRHLCFSAAIREAQHAWRLALQ
15:52646177-52646177 G>A	1.0	4000	MELANOMA	-	-	-	1	MYO5A	ENST00000553916,p.S1153L|NM_000259,p.S1153L|ENST00000399233,p.S1153L|ENST00000356338,p.S1153L|uc002abx.3,p.S1153L|ENST00000358212,p.S1153L|NM_001142495,p.S1153L|uc002aby.2,p.S1153L|ENST00000399231,p.S1153L	retained_intron, protein_coding, nonsense_mediated_decay	uc002aby.2	nonsynonymous SNV	exon26	c.C3458T	p.S1153L	EEPSEKKVPLDMSLFLKLQKRVTEL	EEPSEKKVPLDMLLFLKLQKRVTEL	10.0	5.0	-	-	4000_15:52646177-52646177 G>A_EEPSEKKVPLDMLLFLKLQKRVTEL
7:130142534-130142534 G>A	0.0	4000	MELANOMA	-	-	-	-	MEST	NM_002402,p.G267R|ENST00000393187,p.G258R|NM_001253901,p.G224R|NM_177524,p.G258R|ENST00000463263,p.G105R|uc022alp.1,p.G224R|ENST00000341441,p.G258R|uc003vqd.3,p.G224R|NM_001253900,p.G253R|uc011kph.2,p.G253R|ENST00000416162,p.G224R|ENST00000378576,p.G224R|ENST00000223215,p.G267R|NM_001253902,p.G224R|NM_177525,p.G258R|uc003vqc.3,p.G258R|uc003vqf.3,p.G258R|uc003vqg.3,p.G267R	retained_intron, protein_coding, processed_transcript	uc022alp.1	nonsynonymous SNV	exon9	c.G670A	p.G224R	INQRKKFRRRWVGALASVTIPIHFI	INQRKKFRRRWVRALASVTIPIHFI	5.0	3.0	unscreened	-	4000_7:130142534-130142534 G>A_INQRKKFRRRWVRALASVTIPIHFI
11:49974090-49974090 G>A	0.0	4000	MELANOMA	-	-	-	-	OR4C13	uc010rhz.2,p.G39E|NM_001001955,p.G39E|ENST00000555099,p.G39E	protein_coding	uc010rhz.2	nonsynonymous SNV	exon1	c.G116A	p.G39E	VVFSVIYINAMIGNVLIVVTITASP	VVFSVIYINAMIENVLIVVTITASP	1.0	9.0	unscreened	-	4000_11:49974090-49974090 G>A_VVFSVIYINAMIENVLIVVTITASP
5:140594035-140594035 C>T	1.0	4000	MELANOMA	-	-	-	-	PCDHB13	NM_018933,p.P114S|ENST00000341948,p.P114S|uc003lja.1,p.P114S	protein_coding	uc003lja.1	nonsynonymous SNV	exon1	c.C340T	p.P114S	PCVLRFQVLLESPFEFFQAELQVID	PCVLRFQVLLESSFEFFQAELQVID	4.0	10.0	-	-	4000_5:140594035-140594035 C>T_PCVLRFQVLLESSFEFFQAELQVID
16:10032327-10032327 C>T	0.0	4000	MELANOMA	-	-	-	1	GRIN2A	NM_001134408,p.D166N|ENST00000330684,p.D166N|NM_001134407,p.D166N|uc002czo.4,p.D166N|ENST00000404927,p.D166N|NM_000833,p.D166N|uc002czr.4,p.D166N|ENST00000396573,p.D166N|uc010uym.2,p.D166N|ENST00000396575,p.D166N|ENST00000562109,p.D166N	retained_intron, protein_coding, processed_transcript	uc010uym.2	nonsynonymous SNV	exon4	c.G496A	p.D166N	QATVMLKIMQDYDWHVFSLVTTIFP	QATVMLKIMQDYNWHVFSLVTTIFP	1.0	4.0	unscreened	-	4000_16:10032327-10032327 C>T_QATVMLKIMQDYNWHVFSLVTTIFP
3:52584833-52584833 C>T	1.0	4000	MELANOMA	-	-	-	1	PBRM1	ENST00000409114,p.G1500D|uc003deu.2,p.G1500D	retained_intron, protein_coding, nonsense_mediated_decay	uc003deu.2	nonsynonymous SNV	exon28	c.G4499A	p.G1500D	MGMLNQQLTPVAGVMNQGVAPMVGT	MGMLNQQLTPVADVMNQGVAPMVGT	9.0	4.0	-	-	4000_3:52584833-52584833 C>T_MGMLNQQLTPVADVMNQGVAPMVGT
12:21242843-21242843 A>G	0.0	4000	MELANOMA	-	-	-	-	SLCO1B7	ENST00000421593,p.R576G|ENST00000554957,p.R623G|uc010sil.2,p.R684G|ENST00000540229,p.R684G|uc010sim.2,p.R623G|NM_001009562,p.R576G|ENST00000381541,p.R623G|ENST00000553473,p.R684G|uc010sin.2,p.R576G	protein_coding,nonsense_mediated_decay, nonsense_mediated_decay, processed_transcript	uc010sin.2	nonsynonymous SNV	exon13	c.A1726G	p.R576G	GACRIYNSTYLGRAFFGLKVALIFP	GACRIYNSTYLGGAFFGLKVALIFP	1.0	8.0	unscreened	-	4000_12:21242843-21242843 A>G_GACRIYNSTYLGGAFFGLKVALIFP
1:43638004-43638004 T>C	0.0	4000	MELANOMA	-	-	-	-	EBNA1BP2	NM_001159936,p.E30G|ENST00000431635,p.E30G|uc001cio.3,p.E30G|uc010ojx.2,p.E30G	protein_coding, processed_transcript	uc010ojx.2	nonsynonymous SNV	exon1	c.A89G	p.E30G	KRRSGSYSNDKPEVWFAAGSGSPNQ	KRRSGSYSNDKPGVWFAAGSGSPNQ	9.0	9.0	unscreened	-	4000_1:43638004-43638004 T>C_KRRSGSYSNDKPGVWFAAGSGSPNQ
6:149983343-149983343 G>A	1.0	4000	MELANOMA	-	-	-	-	LATS1	ENST00000253339,p.P972L|ENST00000543571,p.P972L|NM_004690,p.P972L|uc003qmu.2,p.P972L|uc010kif.2,p.P867L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010kif.2	nonsynonymous SNV	exon9	c.C2600T	p.P867L	MKVINWQTSLHIPPQAKLSPEASDL	MKVINWQTSLHILPQAKLSPEASDL	9.0	6.0	-	-	4000_6:149983343-149983343 G>A_MKVINWQTSLHILPQAKLSPEASDL
2:179417031-179417031 C>T	0.0	4000	MELANOMA	-	-	ID=COSM1136427,COSM476335,COSM476338,COSM476336,COSM476337;OCCURENCE=1(kidney)	-	TTN	NM_133437,p.G21326E|NM_003319,p.G21134E|NM_001267550,p.G30199E|uc031rqd.1,p.G28558E|uc021vta.2,p.G21259E|uc021vsz.2,p.G21326E|NM_133432,p.G21259E|ENST00000589042,p.G30199E|uc031rqc.1,p.G30199E|NM_133378,p.G27631E|ENST00000342992,p.G27631E|ENST00000342175,p.G21326E|NM_001256850,p.G28558E|uc021vtb.2,p.G21134E|ENST00000591111,p.G28558E|ENST00000460472,p.G21134E|ENST00000359218,p.G21259E|uc021vsy.2,p.G27631E	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon285	c.G85673A	p.G28558E	ITLSIKNAKKEHGGKYTVILDNAVC	ITLSIKNAKKEHEGKYTVILDNAVC	6.0	9.0	unscreened	-	4000_2:179417031-179417031 C>T_ITLSIKNAKKEHEGKYTVILDNAVC
8:133196589-133196589 C>T	0.0	4000	MELANOMA	-	-	-	-	KCNQ3	ENST00000521134,p.G48E|ENST00000519445,p.G168E|uc003ytj.3,p.G168E|uc010mdt.3,p.G168E|NM_004519,p.G168E|NM_001204824,p.G48E|ENST00000388996,p.G168E|uc003yti.3,p.G48E	retained_intron, protein_coding	uc010mdt.3	nonsynonymous SNV	exon3	c.G503A	p.G168E	LLLLETFAIFIFGAEFALRIWAAGC	LLLLETFAIFIFEAEFALRIWAAGC	4.0	10.0	unscreened	-	4000_8:133196589-133196589 C>T_LLLLETFAIFIFEAEFALRIWAAGC
19:7975437-7975437 T>C	1.0	4000	MELANOMA	-	-	-	-	MAP2K7	uc002miv.2,p.F183L|NM_145185,p.F183L|ENST00000397979,p.F183L|uc002mit.3,p.F183L|ENST00000397983,p.F199L|uc010xkb.2,p.F183L|ENST00000545011,p.F225L|NM_001297555,p.F199L|ENST00000397981,p.F183L|NM_001297556,p.F183L|uc010dvv.3,p.F58L	retained_intron, protein_coding	uc010xkb.2	nonsynonymous SNV	exon5	c.T547C	p.F183L	LKSHDCPYIVQCFGTFITNTDVFIA	LKSHDCPYIVQCLGTFITNTDVFIA	7.0	9.0	-	-	4000_19:7975437-7975437 T>C_LKSHDCPYIVQCLGTFITNTDVFIA
17:5462764-5462764 C>T	0.0	4000	MELANOMA	-	-	-	-	NLRP1	uc002gcg.1,p.V418I|ENST00000577119,p.V418I|NM_001033053,p.V418I|NM_014922,p.V418I|ENST00000544378,p.V418I|ENST00000572272,p.V418I|NM_033006,p.V418I|uc002gcj.3,p.V418I|uc010clh.3,p.V418I|uc002gcl.3,p.V418I|uc002gch.4,p.V418I|ENST00000571451,p.V418I|ENST00000345221,p.V418I|ENST00000269280,p.V418I|uc002gck.3,p.V418I|NM_033004,p.V418I|uc002gci.3,p.V418I|ENST00000354411,p.V418I|NM_033007,p.V418I|ENST00000262467,p.V418I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010clh.3	nonsynonymous SNV	exon5	c.G1252A	p.V418I	LFILDGVDEPGWVLQEPSSELCLHW	LFILDGVDEPGWILQEPSSELCLHW	8.0	3.0	unscreened	-	4000_17:5462764-5462764 C>T_LFILDGVDEPGWILQEPSSELCLHW
16:85953788-85953788 T>A	0.0	4000	MELANOMA	-	-	-	-	IRF8	ENST00000569607,p.F150L|NM_002163,p.F354L|uc002fjh.3,p.F354L|ENST00000562492,p.F150L|ENST00000268638,p.F354L	retained_intron, protein_coding	uc002fjh.3	nonsynonymous SNV	exon8	c.T1062A	p.F354L	PDGRVVLCFGEEFPDMAPLRSKLIL	PDGRVVLCFGEELPDMAPLRSKLIL	10.0	3.0	unscreened	-	4000_16:85953788-85953788 T>A_PDGRVVLCFGEELPDMAPLRSKLIL
12:10999808-10999808 G>A	1.0	4000	MELANOMA	-	-	-	-	PRR4	uc001qyz.4,p.P87S|ENST00000228811,p.P87S|NM_007244,p.P87S	retained_intron, protein_coding, processed_transcript	uc001qyz.4	nonsynonymous SNV	exon3	c.C259T	p.P87S	KPGGHHRHPPPPPFQNQQRPPRRGH	KPGGHHRHPPPPSFQNQQRPPRRGH	9.0	6.0	-	-	4000_12:10999808-10999808 G>A_KPGGHHRHPPPPSFQNQQRPPRRGH
16:24583233-24583233 C>T	1.0	4000	MELANOMA	-	-	-	-	RBBP6	NM_006910,p.P1616S|uc002dmi.3,p.P1582S|uc010bxr.3,p.P776S|uc002dmh.3,p.P1616S|ENST00000381039,p.P776S|ENST00000319715,p.P1616S|ENST00000348022,p.P1582S|NM_018703,p.P1582S|uc002dmk.3,p.P1449S	retained_intron, protein_coding	uc010bxr.3	nonsynonymous SNV	exon11	c.C2326T	p.P776S	TGQIDKSTVKPKPQLSHSSRLSSDL	TGQIDKSTVKPKSQLSHSSRLSSDL	10.0	9.0	-	-	4000_16:24583233-24583233 C>T_TGQIDKSTVKPKSQLSHSSRLSSDL
10:43701570-43701570 C>T	0.0	4000	MELANOMA	-	-	-	-	RASGEF1A	uc001jao.1,p.E7K|ENST00000374459,p.E7K|NM_001282862,p.E7K	protein_coding, processed_transcript	uc001jao.1	nonsynonymous SNV	exon2	c.G19A	p.E7K	MFLEPQETMPQTSVVFSSI	MFLEPQKTMPQTSVVFSSI	5.0	9.0	unscreened	-	4000_10:43701570-43701570 C>T_MFLEPQKTMPQTSVVFSSI
12:22063842-22063842 G>A	0.0	4000	MELANOMA	-	-	-	-	ABCC9	ENST00000544039,p.A24V|uc001rfi.1,p.A361V|uc001rfh.3,p.A361V|NM_020297,p.A361V|ENST00000261201,p.A361V|ENST00000345162,p.A361V|NM_005691,p.A361V|ENST00000261200,p.A361V	protein_coding	uc001rfi.1	nonsynonymous SNV	exon7	c.C1082T	p.A361V	ENAYVLAVLLFLALILQRTFLQASY	ENAYVLAVLLFLVLILQRTFLQASY	6.0	2.0	unscreened	-	4000_12:22063842-22063842 G>A_ENAYVLAVLLFLVLILQRTFLQASY
2:39285837-39285837 C>T	1.0	4000	MELANOMA	-	-	-	-	SOS1	ENST00000402219,p.E108K|ENST00000451331,p.E51K|ENST00000426016,p.E108K|NM_005633,p.E108K|ENST00000428721,p.E51K|uc002rrk.4,p.E108K|ENST00000395038,p.E108K	retained_intron, protein_coding, processed_transcript	uc002rrk.4	nonsynonymous SNV	exon3	c.G322A	p.E108K	KRKRRNPLSLPVEKIHPLLKEVLGY	KRKRRNPLSLPVKKIHPLLKEVLGY	10.0	9.0	-	-	4000_2:39285837-39285837 C>T_KRKRRNPLSLPVKKIHPLLKEVLGY
16:30991504-30991504 T>G	1.0	4000	MELANOMA	-	-	-	-	SETD1A	ENST00000262519,p.V1466G|NM_014712,p.V1466G|uc002ead.1,p.V1466G	protein_coding	uc002ead.1	nonsynonymous SNV	exon14	c.T4397G	p.V1466G	TSGADWLNDTHWVHHTITNLTTPKR	TSGADWLNDTHWGHHTITNLTTPKR	6.0	10.0	-	-	4000_16:30991504-30991504 T>G_TSGADWLNDTHWGHHTITNLTTPKR
8:3443700-3443700 C>T	0.0	4000	MELANOMA	-	-	-	-	CSMD1	ENST00000542608,p.E394K|ENST00000602723,p.E395K|ENST00000537824,p.E394K|ENST00000520002,p.E395K|NM_033225,p.E394K|ENST00000602557,p.E395K|ENST00000400186,p.E395K|ENST00000539096,p.E394K|uc022aqr.1,p.E394K	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon9	c.G1180A	p.E394K	QGSKSITCQRVTETLAAWSDHRPIC	QGSKSITCQRVTKTLAAWSDHRPIC	4.0	10.0	unscreened	-	4000_8:3443700-3443700 C>T_QGSKSITCQRVTKTLAAWSDHRPIC
7:150439286-150439286 A>G	0.0	4000	MELANOMA	-	-	-	-	GIMAP1-GIMAP5,GIMAP5	uc022apw.1,p.N224S|NM_001199577,p.N224S|ENST00000358647,p.N20S|NM_018384,p.N20S|uc003whr.2,p.N20S	retained_intron, protein_coding, processed_transcript	uc022apw.1	nonsynonymous SNV	exon6	c.A671G	p.N224S	KYGTMAEGRSEDNLSATPPALRIIL	KYGTMAEGRSEDSLSATPPALRIIL	9.0	2.0	unscreened	-	4000_7:150439286-150439286 A>G_KYGTMAEGRSEDSLSATPPALRIIL
17:46627943-46627943 G>A	0.0	4000	MELANOMA	-	-	-	-	HOXB3	ENST00000490677,p.P216L|uc010dbf.3,p.P350L|ENST00000460160,p.P218L|uc010wlk.2,p.P218L|uc002inn.3,p.P350L|ENST00000472863,p.P277L|ENST00000311626,p.P350L|ENST00000476342,p.P350L|uc010wlm.2,p.P277L|uc010wll.2,p.P277L|ENST00000485909,p.P218L|ENST00000498678,p.P350L|uc010dbg.3,p.P350L|uc002ino.3,p.P350L|ENST00000470495,p.P350L|ENST00000489475,p.P277L|NM_002146,p.P350L	retained_intron, protein_coding, processed_transcript	uc010wlm.2	nonsynonymous SNV	exon4	c.C830T	p.P277L	GGAYGTPTMQGSPVYVGGGGYADPL	GGAYGTPTMQGSLVYVGGGGYADPL	5.0	6.0	unscreened	-	4000_17:46627943-46627943 G>A_GGAYGTPTMQGSLVYVGGGGYADPL
11:55563492-55563492 G>C	0.0	4000	MELANOMA	-	-	-	-	OR5D14	uc010rim.2,p.G154A|ENST00000335605,p.G154A|NM_001004735,p.G154A	protein_coding	uc010rim.2	nonsynonymous SNV	exon1	c.G461C	p.G154A	LCALLVAGSYLWGMFGPLVLLCYAL	LCALLVAGSYLWAMFGPLVLLCYAL	1.0	7.0	unscreened	-	4000_11:55563492-55563492 G>C_LCALLVAGSYLWAMFGPLVLLCYAL
16:929677-929677 G>A	0.0	4000	MELANOMA	-	-	-	-	LMF1	ENST00000570014,p.R155C|uc021tae.1,p.R264C|ENST00000399843,p.R264C|uc002ckk.2,p.R47C|uc010bri.2,p.R27C|ENST00000568897,p.R47C|uc010uuu.2,p.R47C|ENST00000543238,p.R27C|NM_022773,p.R264C|ENST00000262301,p.R264C|ENST00000566627,p.R97C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc021tae.1	nonsynonymous SNV	exon6	c.C790T	p.R264C	AYYLHHSPWWFHRFETLSNHFIELL	AYYLHHSPWWFHCFETLSNHFIELL	7.0	5.0	unscreened	-	4000_16:929677-929677 G>A_AYYLHHSPWWFHCFETLSNHFIELL
4:69796267-69796267 G>A	0.0	4000	MELANOMA	-	-	-	-	UGT2A3	ENST00000420231,p.S145F|uc003hef.2,p.S434F|NM_024743,p.S434F|ENST00000251566,p.S434F	protein_coding, nonsense_mediated_decay	uc003hef.2	nonsynonymous SNV	exon5	c.C1301T	p.S434F	DLLRALRTVITDSSYKENAMRLSRI	DLLRALRTVITDFSYKENAMRLSRI	1.0	8.0	unscreened	-	4000_4:69796267-69796267 G>A_DLLRALRTVITDFSYKENAMRLSRI
17:77081346-77081346 C>T	0.0	4000	MELANOMA	-	-	-	-	ENGASE	uc002jww.4,p.P246L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jww.4	nonsynonymous SNV	exon8	c.C737T	p.P246L	VLNETSSRHSLRPLRVPPTKLARWV	VLNETSSRHSLRLLRVPPTKLARWV	8.0	1.0	unscreened	-	4000_17:77081346-77081346 C>T_VLNETSSRHSLRLLRVPPTKLARWV
17:77081346-77081346 C>T	0.0	4000	MELANOMA	-	-	-	-	ENGASE	uc002jwv.4,p.P541L|NM_001042573,p.P541L|ENST00000579016,p.P541L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jwv.4	nonsynonymous SNV	exon12	c.C1622T	p.P541L	LNAETSSRHSLRPLRVPPTKLARWV	LNAETSSRHSLRLLRVPPTKLARWV	8.0	1.0	unscreened	-	4000_17:77081346-77081346 C>T_LNAETSSRHSLRLLRVPPTKLARWV
9:5463085-5463085 C>T	1.0	4000	MELANOMA	-	-	-	1	CD274	NM_014143,p.P216S|uc003zje.3,p.P216S|NM_001267706,p.P102S|ENST00000381573,p.P102S|ENST00000381577,p.P216S|uc003zjf.4,p.P102S	protein_coding, processed_transcript	uc003zjf.4	nonsynonymous SNV	exon3	c.C304T	p.P102S	NEIFYCTFRRLDPEENHTAELVIPE	NEIFYCTFRRLDSEENHTAELVIPE	7.0	10.0	-	-	4000_9:5463085-5463085 C>T_NEIFYCTFRRLDSEENHTAELVIPE
X:74648974-74648974 G>A	0.0	4000	MELANOMA	-	-	-	-	ZDHHC15	ENST00000541184,p.S172F|ENST00000373367,p.S181F|NM_144969,p.S181F|uc004ecg.3,p.S181F|NM_001146256,p.S172F|uc004ech.3,p.S172F	protein_coding, processed_transcript	uc004ech.3	nonsynonymous SNV	exon6	c.C515T	p.S172F	SNYKFFLQFLAYSVLYCLYIATTVF	SNYKFFLQFLAYFVLYCLYIATTVF	3.0	10.0	unscreened	-	4000_X:74648974-74648974 G>A_SNYKFFLQFLAYFVLYCLYIATTVF
7:93065334-93065334 G>A	0.0	4000	MELANOMA	-	-	-	-	CALCR	uc022ahi.1,p.P360L|uc003umv.2,p.P394L|uc003umw.2,p.P360L|ENST00000421592,p.P376L|ENST00000359558,p.P394L|ENST00000426151,p.P360L|ENST00000360249,p.P376L|NM_001164737,p.P394L|ENST00000394441,p.P360L|NM_001164738,p.P360L|NM_001742,p.P360L	protein_coding, nonsense_mediated_decay	uc022ahi.1	nonsynonymous SNV	exon11	c.C1079T	p.P360L	LVPLLGIQFVVFPWRPSNKMLGKIY	LVPLLGIQFVVFLWRPSNKMLGKIY	3.0	4.0	unscreened	-	4000_7:93065334-93065334 G>A_LVPLLGIQFVVFLWRPSNKMLGKIY
2:175618468-175618468 C>T	1.0	4000	MELANOMA	-	-	-	-	CHRNA1	uc002uje.2,p.E181K|NM_001039523,p.E206K|ENST00000348749,p.E181K|ENST00000409219,p.E181K|NM_000079,p.E181K|uc002ujf.4,p.E181K|ENST00000409542,p.E99K|ENST00000409323,p.E181K|ENST00000261007,p.E206K|uc002ujd.2,p.E206K	protein_coding, nonsense_mediated_decay	uc002ujf.4	nonsynonymous SNV	exon6	c.G541A	p.E181K	WTYDGSVVAINPESDQPDLSNFMES	WTYDGSVVAINPKSDQPDLSNFMES	5.0	9.0	-	-	4000_2:175618468-175618468 C>T_WTYDGSVVAINPKSDQPDLSNFMES
6:29455412-29455412 C>T	0.0	4000	MELANOMA	-	-	-	-	MAS1L	NM_052967,p.V90I|ENST00000377127,p.V90I|uc011dlq.2,p.V90I	protein_coding	uc011dlq.2	nonsynonymous SNV	exon1	c.G268A	p.V90I	IAPKAVLVSLCGVLLNGTVFWLLCC	IAPKAVLVSLCGILLNGTVFWLLCC	1.0	2.0	unscreened	-	4000_6:29455412-29455412 C>T_IAPKAVLVSLCGILLNGTVFWLLCC
1:248844752-248844752 G>A	0.0	4000	MELANOMA	-	-	ID=COSM3400621;OCCURENCE=1(central_nervous_system)	-	OR14I1	NM_001004734,p.P285L|ENST00000342623,p.P285L|uc001ieu.1,p.P285L	protein_coding	uc001ieu.1	nonsynonymous SNV	exon1	c.C854T	p.P285L	ALTYTVLPPFLNPIIYSLRNKEIKT	ALTYTVLPPFLNLIIYSLRNKEIKT	1.0	8.0	unscreened	-	4000_1:248844752-248844752 G>A_ALTYTVLPPFLNLIIYSLRNKEIKT
9:90321905-90321905 C>T	1.0	4000	MELANOMA	-	-	-	-	DAPK1	NM_004938,p.L1307F|NM_001288730,p.L1307F|NM_001288729,p.L1307F|ENST00000491893,p.L1241F|ENST00000358077,p.L1307F|uc004apd.3,p.L1307F|ENST00000472284,p.L1307F|uc011lth.2,p.L1044F|ENST00000469640,p.L1332F|ENST00000408954,p.L1307F|uc004apc.3,p.L1307F|NM_001288731,p.L1307F|uc011ltg.2,p.L1241F|uc004apg.2,p.L284F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lth.2	nonsynonymous SNV	exon24	c.C3130T	p.L1044F	SLGMDIHASDLNLLTRRKLSRLLDP	SLGMDIHASDLNFLTRRKLSRLLDP	9.0	10.0	-	-	4000_9:90321905-90321905 C>T_SLGMDIHASDLNFLTRRKLSRLLDP
11:111487079-111487079 A>T	1.0	4000	MELANOMA	-	-	-	-	SIK2	ENST00000304987,p.Y83F|uc001plt.3,p.Y83F|NM_015191,p.Y83F	protein_coding, processed_transcript	uc001plt.3	nonsynonymous SNV	exon2	c.A248T	p.Y83F	MKMLDHPHIIKLYQVMETKSMLYLV	MKMLDHPHIIKLFQVMETKSMLYLV	7.0	10.0	-	-	4000_11:111487079-111487079 A>T_MKMLDHPHIIKLFQVMETKSMLYLV
1:248004708-248004708 G>A	0.0	4000	MELANOMA	-	-	-	-	OR11L1	uc001idn.1,p.S164F|NM_001001959,p.S164F|ENST00000355784,p.S164F	protein_coding	uc001idn.1	nonsynonymous SNV	exon1	c.C491T	p.S164F	GVSTGFLPSLMISRLDFCGRNQINH	GVSTGFLPSLMIFRLDFCGRNQINH	1.0	3.0	unscreened	-	4000_1:248004708-248004708 G>A_GVSTGFLPSLMIFRLDFCGRNQINH
1:149761618-149761618 C>T	0.0	4000	MELANOMA	-	-	-	-	FCGR1A	ENST00000369168,p.P190S|NM_000566,p.P190S|uc001esp.4,p.P190S|ENST00000444948,p.P98S	protein_coding, processed_transcript	uc001esp.4	nonsynonymous SNV	exon5	c.C568T	p.P190S	SAGISVTVKELFPAPVLNASVTSPL	SAGISVTVKELFSAPVLNASVTSPL	8.0	3.0	unscreened	-	4000_1:149761618-149761618 C>T_SAGISVTVKELFSAPVLNASVTSPL
6:136934394-136934394 C>T	0.0	4000	MELANOMA	-	-	-	-	MAP3K5	uc011edk.1,p.G605E|ENST00000359015,p.G760E|NM_005923,p.G760E|uc003qhc.3,p.G760E	protein_coding, processed_transcript	uc011edk.1	nonsynonymous SNV	exon17	c.G1814A	p.G605E	GFIKIFMEQVPGGSLSALLRSKWGP	GFIKIFMEQVPGESLSALLRSKWGP	6.0	1.0	unscreened	-	4000_6:136934394-136934394 C>T_GFIKIFMEQVPGESLSALLRSKWGP
16:12140275-12140275 G>A	1.0	4000	MELANOMA	-	-	-	-	SNX29	uc002dby.5,p.E155K|uc002dbw.3,p.E155K|NM_032167,p.E155K|ENST00000566228,p.E155K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dby.5	nonsynonymous SNV	exon6	c.G463A	p.E155K	STFYEDWSFVMDEERSSMLPTMAAG	STFYEDWSFVMDKERSSMLPTMAAG	7.0	7.0	-	-	4000_16:12140275-12140275 G>A_STFYEDWSFVMDKERSSMLPTMAAG
4:15826634-15826634 C>T	0.0	4000	MELANOMA	-	-	-	-	CD38	ENST00000226279,p.T165I|NM_001775,p.T165I|uc003gol.1,p.T165I	retained_intron, protein_coding, nonsense_mediated_decay	uc003gol.1	nonsynonymous SNV	exon3	c.C494T	p.T165I	LADDLTWCGEFNTSKINYQSCPDWR	LADDLTWCGEFNISKINYQSCPDWR	10.0	3.0	unscreened	-	4000_4:15826634-15826634 C>T_LADDLTWCGEFNISKINYQSCPDWR
3:97887907-97887907 C>T	0.0	4000	MELANOMA	-	-	-	-	OR5H15	ENST00000356526,p.R122C|NM_001005515,p.R122C|uc011bgu.2,p.R122C	protein_coding	uc011bgu.2	nonsynonymous SNV	exon1	c.C364T	p.R122C	TECFLLATMAYDRYVAICKPLLYPA	TECFLLATMAYDCYVAICKPLLYPA	1.0	8.0	unscreened	-	4000_3:97887907-97887907 C>T_TECFLLATMAYDCYVAICKPLLYPA
11:58170665-58170665 G>A	0.0	4000	MELANOMA	-	-	-	-	OR5B3	uc010rkf.2,p.S73L|NM_001005469,p.S73L|ENST00000309403,p.S73L	protein_coding	uc010rkf.2	nonsynonymous SNV	exon1	c.C218T	p.S73L	LSNLSLVDFCYSSAVTPIVMAGFLI	LSNLSLVDFCYSLAVTPIVMAGFLI	1.0	4.0	unscreened	-	4000_11:58170665-58170665 G>A_LSNLSLVDFCYSLAVTPIVMAGFLI
2:220344533-220344533 A>C	0.0	4000	MELANOMA	-	-	-	-	SPEG	ENST00000312358,p.E1705A|uc010fwg.3,p.E1705A|NM_005876,p.E1705A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fwg.3	nonsynonymous SNV	exon24	c.A5114C	p.E1705A	ESEIRAYMRQVLEGIHYLHQSHVLH	ESEIRAYMRQVLAGIHYLHQSHVLH	1.0	7.0	unscreened	-	4000_2:220344533-220344533 A>C_ESEIRAYMRQVLAGIHYLHQSHVLH
14:69702800-69702800 C>T	1.0	4000	MELANOMA	-	-	-	-	EXD2	uc001xkw.3,p.P238S|ENST00000409242,p.P238S|uc010tte.2,p.P363S|NM_001193363,p.P363S|NM_001193362,p.P363S|NM_001193360,p.P363S|uc001xkv.3,p.P363S|uc001xkx.3,p.P238S|NM_018199,p.P238S|uc010aqt.3,p.P363S|ENST00000409675,p.P238S|uc001xky.3,p.P363S|ENST00000449989,p.P238S|ENST00000409949,p.P238S|uc001xku.3,p.P108S|uc001xkt.3,p.P238S|ENST00000409018,p.P363S|ENST00000409014,p.P238S|ENST00000312994,p.P363S|NM_001193361,p.P363S	retained_intron, protein_coding, processed_transcript	uc010tte.2	nonsynonymous SNV	exon6	c.C1087T	p.P363S	KSPLYDNCFLHAPDGQPLCTCDRRK	KSPLYDNCFLHASDGQPLCTCDRRK	7.0	3.0	-	-	4000_14:69702800-69702800 C>T_KSPLYDNCFLHASDGQPLCTCDRRK
20:31622587-31622587 G>A	0.0	4000	MELANOMA	-	-	-	-	BPIFB6	NM_174897,p.M107I|ENST00000349552,p.M107I|uc010zud.2,p.M46I|uc010zuc.2,p.M107I	protein_coding, nonsense_mediated_decay	uc010zud.2	nonsynonymous SNV	exon5	c.G138A	p.M46I	MTVTGKSFMGGNMEIIVALNITATN	MTVTGKSFMGGNIEIIVALNITATN	1.0	9.0	unscreened	-	4000_20:31622587-31622587 G>A_MTVTGKSFMGGNIEIIVALNITATN
3:97851905-97851905 C>T	0.0	4000	MELANOMA	-	-	-	-	OR5H1	uc011bgt.2,p.R122C|NM_001005338,p.R122C|ENST00000354565,p.R122C	protein_coding	uc011bgt.2	nonsynonymous SNV	exon1	c.C364T	p.R122C	TECFLLATMAYDRYVAICKPLLYPA	TECFLLATMAYDCYVAICKPLLYPA	1.0	3.0	unscreened	-	4000_3:97851905-97851905 C>T_TECFLLATMAYDCYVAICKPLLYPA
1:157767666-157767666 G>A	1.0	4000	MELANOMA	-	-	-	-	FCRL1	uc001frg.3,p.S393L|NM_052938,p.S393L|ENST00000368176,p.S393L	protein_coding, processed_transcript	uc001frg.3	nonsynonymous SNV	exon9	c.C1178T	p.S393L	YSLAYYNQPEQESVAAETLGTHMED	YSLAYYNQPEQELVAAETLGTHMED	8.0	9.0	-	-	4000_1:157767666-157767666 G>A_YSLAYYNQPEQELVAAETLGTHMED
6:167570977-167570977 G>A	0.0	4000	MELANOMA	-	-	-	-	GPR31	uc011egq.2,p.R115C|NM_005299,p.R115C|ENST00000366834,p.R115C	protein_coding	uc011egq.2	nonsynonymous SNV	exon1	c.C343T	p.R115C	AFLAAVALDRYLRVVHPRLKVNLLS	AFLAAVALDRYLCVVHPRLKVNLLS	3.0	10.0	unscreened	-	4000_6:167570977-167570977 G>A_AFLAAVALDRYLCVVHPRLKVNLLS
5:140764354-140764354 C>T	0.0	4000	MELANOMA	-	-	-	-	PCDHGA7	ENST00000518325,p.R630W|NM_018920,p.R630W|NM_032087,p.R630W|uc003lka.2,p.R630W|uc003ljz.1,p.R630W	protein_coding	uc003lka.2	nonsynonymous SNV	exon1	c.C1888T	p.R630W	AVGLYTGEVRTARALLDRDALKQSL	AVGLYTGEVRTAWALLDRDALKQSL	3.0	1.0	unscreened	-	4000_5:140764354-140764354 C>T_AVGLYTGEVRTAWALLDRDALKQSL
14:20586497-20586497 C>T	0.0	4000	MELANOMA	-	-	-	-	OR4K17	ENST00000315543,p.P311L|NM_001004715,p.P311L|uc001vwo.1,p.P311L	protein_coding	uc001vwo.1	nonsynonymous SNV	exon1	c.C932T	p.P311L	DKFLAVFYTIITPILNPIIYTLRNK	DKFLAVFYTIITLILNPIIYTLRNK	1.0	3.0	unscreened	-	4000_14:20586497-20586497 C>T_DKFLAVFYTIITLILNPIIYTLRNK
3:119466102-119466102 G>A	0.0	4000	MELANOMA	-	-	-	-	MAATS1	uc010hqz.3,p.M619I|uc011bje.2,p.M661I|uc011bjd.2,p.M555I|NM_033364,p.M681I|ENST00000273390,p.M681I|uc003ede.4,p.M681I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bje.2	nonsynonymous SNV	exon15	c.G1983A	p.M661I	KMAEKINDIAYEMESRRTYLQSEEI	KMAEKINDIAYEIESRRTYLQSEEI	6.0	4.0	unscreened	-	4000_3:119466102-119466102 G>A_KMAEKINDIAYEIESRRTYLQSEEI
1:248814116-248814116 G>A	0.0	4000	MELANOMA	-	-	ID=COSM222678;OCCURENCE=1(lung),1(skin)	-	OR2T27	uc010pzo.2,p.P24S|NM_001001824,p.P24S|ENST00000344889,p.P24S	protein_coding	uc010pzo.2	nonsynonymous SNV	exon1	c.C70T	p.P24S	FILLGLFSNARFPWLLFALILLVFL	FILLGLFSNARFSWLLFALILLVFL	1.0	1.0	unscreened	-	4000_1:248814116-248814116 G>A_FILLGLFSNARFSWLLFALILLVFL
12:57868667-57868667 C>T	0.0	4000	MELANOMA	-	-	-	-	ARHGAP9	NM_001080157,p.D548N|ENST00000424809,p.D548N|uc001sob.3,p.D548N|ENST00000430041,p.D364N|uc001soa.3,p.D237N|uc001soc.3,p.D548N|ENST00000550130,p.D55N|ENST00000393797,p.D638N|uc001soe.1,p.D627N|uc001snz.3,p.D364N|ENST00000356411,p.D567N|ENST00000393791,p.D548N|NM_032496,p.D548N|uc001sod.3,p.D638N|NM_001080156,p.D364N|ENST00000550288,p.D627N	retained_intron, protein_coding, processed_transcript	uc001soe.1	nonsynonymous SNV	exon16	c.G1879A	p.D627N	VPSFLRLCIAAVDKRGLDVDGIYRV	VPSFLRLCIAAVNKRGLDVDGIYRV	9.0	6.0	unscreened	-	4000_12:57868667-57868667 C>T_VPSFLRLCIAAVNKRGLDVDGIYRV
19:6415664-6415664 G>A	1.0	4000	MELANOMA	-	-	-	-	KHSRP	ENST00000594745,p.P15S	retained_intron, protein_coding	ENST00000594745	nonsynonymous SNV	exon1	c.C43T	p.P15S	AYYSHYYQQPPGPVPGPAPAPAAPP	AYYSHYYQQPPGSVPGPAPAPAAPP	10.0	10.0	unscreened	-	4000_19:6415664-6415664 G>A_AYYSHYYQQPPGSVPGPAPAPAAPP
6:84903363-84903363 G>A	1.0	4000	MELANOMA	-	-	-	-	CEP162	uc010kbp.3,p.S358F|uc003pkk.2,p.S358F|NM_014895,p.S358F|uc003pkj.4,p.S282F|ENST00000257766,p.S282F|ENST00000403245,p.S358F|NM_001286206,p.S282F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kbp.3	nonsynonymous SNV	exon11	c.C1073T	p.S358F	TVEELMKPIRIDSFGISGFDLQPVS	TVEELMKPIRIDFFGISGFDLQPVS	7.0	10.0	-	-	4000_6:84903363-84903363 G>A_TVEELMKPIRIDFFGISGFDLQPVS
18:28725740-28725740 C>T	0.0	4000	MELANOMA	-	-	-	-	DSC1	NM_004948,p.G258E|ENST00000257198,p.G258E|uc002kwn.3,p.G258E|uc002kwm.3,p.G258E|NM_024421,p.G258E|ENST00000257197,p.G258E	protein_coding	uc002kwn.3	nonsynonymous SNV	exon7	c.G773A	p.G258E	VTIFTVPENCRSGTSVGKVTATDLD	VTIFTVPENCRSETSVGKVTATDLD	1.0	1.0	unscreened	-	4000_18:28725740-28725740 C>T_VTIFTVPENCRSETSVGKVTATDLD
19:7509248-7509248 G>C	1.0	4000	MELANOMA	-	-	-	-	ARHGEF18	uc010xjm.1,p.A161P|ENST00000359920,p.A319P|NM_001130955,p.A319P|uc002mgh.3,p.A161P|ENST00000319670,p.A161P|NM_015318,p.A161P|uc002mgi.3,p.A319P	retained_intron, protein_coding	uc010xjm.1	nonsynonymous SNV	exon6	c.G481C	p.A161P	ADDLLETHSHFLARLKERRQESLEE	ADDLLETHSHFLPRLKERRQESLEE	8.0	3.0	-	-	4000_19:7509248-7509248 G>C_ADDLLETHSHFLPRLKERRQESLEE
21:34011382-34011382 A>G	1.0	4000	MELANOMA	-	-	-	-	SYNJ1	uc002yqi.2,p.S1290P|uc002yqf.2,p.S1235P|uc011ads.1,p.S1204P|ENST00000382491,p.S1204P|NM_001160302,p.S1235P|NM_003895,p.S1290P|uc002yqh.2,p.S1290P|uc002yqg.2,p.S1204P|ENST00000322229,p.S1251P|ENST00000357345,p.S1235P|ENST00000382499,p.S1290P|NM_203446,p.S1290P|NM_001160306,p.S1204P|ENST00000433931,p.S1290P	retained_intron, protein_coding, processed_transcript	uc011ads.1	nonsynonymous SNV	exon26	c.T3610C	p.S1204P	EPLKPQAAFPPQSSLPPPAQRLQEP	EPLKPQAAFPPQPSLPPPAQRLQEP	8.0	8.0	-	-	4000_21:34011382-34011382 A>G_EPLKPQAAFPPQPSLPPPAQRLQEP
19:1056459-1056459 C>T	0.0	4000	MELANOMA	-	-	-	-	ABCA7	ENST00000263094,p.P1516L|NM_019112,p.P1516L|uc002lqw.4,p.P1516L|ENST00000435683,p.P1378L|ENST00000433129,p.P1516L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lqw.4	nonsynonymous SNV	exon33	c.C4547T	p.P1516L	ARHAHSITTLNHPLNLTKEQLSEGA	ARHAHSITTLNHLLNLTKEQLSEGA	7.0	8.0	unscreened	-	4000_19:1056459-1056459 C>T_ARHAHSITTLNHLLNLTKEQLSEGA
9:113141657-113141657 C>T	0.0	4000	MELANOMA	-	-	-	-	SVEP1	ENST00000297826,p.G1386R|NM_153366,p.G3460R|uc010mtz.3,p.G3460R|ENST00000374469,p.G3437R|ENST00000401783,p.G3460R|uc010mty.3,p.G1386R	protein_coding, processed_transcript	uc010mtz.3	nonsynonymous SNV	exon44	c.G10378A	p.G3460R	LEGFLRSVCLENGTWTSPPICRAVC	LEGFLRSVCLENRTWTSPPICRAVC	4.0	10.0	unscreened	-	4000_9:113141657-113141657 C>T_LEGFLRSVCLENRTWTSPPICRAVC
X:154194351-154194351 C>T	0.0	4000	MELANOMA	-	-	-	-	F8	NM_000132,p.R446Q|ENST00000360256,p.R446Q|uc004fmt.3,p.R446Q	protein_coding, processed_transcript	uc004fmt.3	nonsynonymous SNV	exon9	c.G1337A	p.R446Q	GPQRIGRKYKKVRFMAYTDETFKTR	GPQRIGRKYKKVQFMAYTDETFKTR	7.0	10.0	unscreened	-	4000_X:154194351-154194351 C>T_GPQRIGRKYKKVQFMAYTDETFKTR
2:32620586-32620586 C>T	1.0	4000	MELANOMA	-	-	-	2	BIRC6	uc010ezu.3,p.S320L|ENST00000421745,p.S320L|NM_016252,p.S320L	retained_intron, protein_coding, nonsense_mediated_decay	uc010ezu.3	nonsynonymous SNV	exon6	c.C959T	p.S320L	PMAQAGFYHQPASSGDDRAMCFTCS	PMAQAGFYHQPALSGDDRAMCFTCS	9.0	8.0	-	-	4000_2:32620586-32620586 C>T_PMAQAGFYHQPALSGDDRAMCFTCS
2:225670195-225670195 G>A	1.0	4000	MELANOMA	-	-	-	-	DOCK10	uc002voc.2,p.S143F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002voc.2	nonsynonymous SNV	exon6	c.C428T	p.S143F	NSIAVNHADSRASLASLDSNPSTNE	NSIAVNHADSRAFLASLDSNPSTNE	10.0	7.0	-	-	4000_2:225670195-225670195 G>A_NSIAVNHADSRAFLASLDSNPSTNE
19:52249350-52249350 G>A	0.0	4000	MELANOMA	-	-	-	-	FPR1	ENST00000304748,p.L300F|uc021uyn.1,p.L300F|NM_002029,p.L300F|NM_001193306,p.L300F|uc002pxq.3,p.L300F|uc021uyo.1,p.L300F|ENST00000595042,p.L300F	protein_coding	uc021uyo.1	nonsynonymous SNV	exon1	c.C898T	p.L300F	ALAFFNSCLNPMLYVFMGQDFRERL	ALAFFNSCLNPMFYVFMGQDFRERL	6.0	3.0	unscreened	-	4000_19:52249350-52249350 G>A_ALAFFNSCLNPMFYVFMGQDFRERL
11:43348148-43348148 A>G	1.0	4000	MELANOMA	-	-	-	-	API5	NM_001142930,p.D281G|ENST00000378852,p.D281G|ENST00000531273,p.D281G|ENST00000455725,p.D270G|ENST00000420461,p.D227G|uc001mxf.2,p.D281G|uc010rfg.1,p.D270G|uc010rfi.1,p.D227G|NM_006595,p.D281G|uc010rfh.1,p.D281G|ENST00000534600,p.D281G|NM_001142931,p.D227G|uc001mxg.3,p.D155G	retained_intron, protein_coding, processed_transcript	uc010rfi.1	nonsynonymous SNV	exon6	c.A680G	p.D227G	NLGTLTTPVEGLDIQLEVLKLLAEM	NLGTLTTPVEGLGIQLEVLKLLAEM	10.0	7.0	-	-	4000_11:43348148-43348148 A>G_NLGTLTTPVEGLGIQLEVLKLLAEM
7:141872508-141872508 G>A	0.0	4000	MELANOMA	-	-	-	-	LOC93432	NM_001293626,p.D1169N|ENST00000477922,p.D1169N	retained_intron, protein_coding	NM_001293626	nonsynonymous SNV	exon30	c.G3505A	p.D1169N	PALTYRTTGGILDFYIVLGPTPELV	PALTYRTTGGILNFYIVLGPTPELV	3.0	2.0	unscreened	-	4000_7:141872508-141872508 G>A_PALTYRTTGGILNFYIVLGPTPELV
6:166831756-166831756 G>A	0.0	4000	MELANOMA	-	-	-	-	RPS6KA2	uc003qvb.1,p.A632V|ENST00000503859,p.A640V|uc011ego.1,p.A543V|uc003qvc.1,p.A640V|uc010kkk.1,p.A64V|uc010kkl.1,p.A543V|uc003qvd.1,p.A657V|ENST00000510118,p.A657V|ENST00000265678,p.A632V|ENST00000405189,p.A543V|NM_021135,p.A632V|NM_001006932,p.A640V|ENST00000481261,p.A543V	protein_coding, processed_transcript	uc011ego.1	nonsynonymous SNV	exon19	c.C1628T	p.A543V	EEILARIGSGKYALSGGNWDSISDA	EEILARIGSGKYVLSGGNWDSISDA	6.0	6.0	unscreened	-	4000_6:166831756-166831756 G>A_EEILARIGSGKYVLSGGNWDSISDA
1:157767666-157767666 G>A	1.0	4000	MELANOMA	-	-	-	-	FCRL1	NM_001159398,p.S393L|uc001frh.3,p.S393L|ENST00000491942,p.S393L	protein_coding, processed_transcript	uc001frh.3	nonsynonymous SNV	exon9	c.C1178T	p.S393L	YSLAYYNQPEQESVAETLGTHMEDK	YSLAYYNQPEQELVAETLGTHMEDK	8.0	9.0	-	-	4000_1:157767666-157767666 G>A_YSLAYYNQPEQELVAETLGTHMEDK
1:207317304-207317304 G>A	0.0	4000	MELANOMA	-	-	-	-	C4BPA	uc001hfo.3,p.R529K|NM_000715,p.R529K|ENST00000367070,p.R529K	protein_coding, nonsense_mediated_decay	uc001hfo.3	nonsynonymous SNV	exon11	c.G1586A	p.R529K	VVGPQSITCSGNRTWYPEVPKCEWE	VVGPQSITCSGNKTWYPEVPKCEWE	3.0	6.0	unscreened	-	4000_1:207317304-207317304 G>A_VVGPQSITCSGNKTWYPEVPKCEWE
6:128388773-128388773 G>A	1.0	4000	MELANOMA	-	-	ID=COSM236211;OCCURENCE=1(autonomic_ganglia)	1	PTPRK	ENST00000368226,p.A683V|ENST00000532331,p.A683V|NM_002844,p.A683V|ENST00000368227,p.A683V|ENST00000368210,p.A683V|uc003qbl.1,p.A553V|ENST00000368215,p.A683V|NM_001291982,p.A683V|ENST00000368207,p.A683V|ENST00000368213,p.A683V|NM_001291983,p.A554V|uc003qbj.3,p.A683V|uc011ebu.2,p.A683V|NM_001135648,p.A683V|uc010kfc.3,p.A683V|uc011ebv.1,p.A683V|NM_001291981,p.A683V|NM_001291984,p.A683V|uc003qbk.3,p.A683V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ebv.1	nonsynonymous SNV	exon12	c.C2048T	p.A683V	AAELPPGNLPEPAPFTVGDNRTYQG	AAELPPGNLPEPVPFTVGDNRTYQG	1.0	5.0	-	-	4000_6:128388773-128388773 G>A_AAELPPGNLPEPVPFTVGDNRTYQG
19:52376494-52376494 G>A	1.0	4000	MELANOMA	-	-	-	-	ZNF577	ENST00000451628,p.A191V|uc002pxx.4,p.A191V|ENST00000458390,p.A250V|NM_032679,p.A250V|ENST00000301399,p.A250V|uc010yde.2,p.A250V|uc002pxw.3,p.A184V|uc002pxv.3,p.A243V|ENST00000420592,p.A191V|NM_001135590,p.A191V	retained_intron, protein_coding, processed_transcript	uc010yde.2	nonsynonymous SNV	exon7	c.C749T	p.A250V	GEKPYRCSKCGKAFSRKCRLNRHQR	GEKPYRCSKCGKVFSRKCRLNRHQR	8.0	3.0	-	-	4000_19:52376494-52376494 G>A_GEKPYRCSKCGKVFSRKCRLNRHQR
19:42085957-42085957 G>A	0.0	4000	MELANOMA	0.0005	-	-	-	CEACAM21	uc002ore.4,p.D226N|ENST00000401445,p.D226N|NM_001098506,p.D226N|ENST00000407170,p.D98N|NM_001288773,p.D98N	protein_coding, processed_transcript, nonsense_mediated_decay	uc002ore.4	nonsynonymous SNV	exon3	c.G676A	p.D226N	CEVSNPVSSNRSDPLKLTVKSDDNT	CEVSNPVSSNRSNPLKLTVKSDDNT	7.0	10.0	unscreened	-	4000_19:42085957-42085957 G>A_CEVSNPVSSNRSNPLKLTVKSDDNT
5:151771969-151771969 G>A	0.0	4000	MELANOMA	-	-	-	-	NMUR2	uc003luv.2,p.S344F|NM_020167,p.S344F|ENST00000255262,p.S344F	protein_coding, processed_transcript	uc003luv.2	nonsynonymous SNV	exon4	c.C1031T	p.S344F	RRFQAAFQNVISSFHKQWHSQHDPQ	RRFQAAFQNVISFFHKQWHSQHDPQ	1.0	2.0	unscreened	-	4000_5:151771969-151771969 G>A_RRFQAAFQNVISFFHKQWHSQHDPQ
11:5529236-5529236 G>A	0.0	4000	MELANOMA	-	-	-	-	UBQLN3	NM_017481,p.P518L|ENST00000311659,p.P518L|uc021qcw.1,p.P518L|uc001may.1,p.P518L	protein_coding	uc021qcw.1	nonsynonymous SNV	exon1	c.C1553T	p.P518L	PLLMHLQAAMANPRALQALRQIEQG	PLLMHLQAAMANLRALQALRQIEQG	2.0	9.0	unscreened	-	4000_11:5529236-5529236 G>A_PLLMHLQAAMANLRALQALRQIEQG
7:143175200-143175200 G>A	0.0	4000	MELANOMA	-	-	-	-	TAS2R41	uc003wdc.1,p.G79S|ENST00000408916,p.G79S|NM_176883,p.G79S	protein_coding	uc003wdc.1	nonsynonymous SNV	exon1	c.G235A	p.G79S	FYYSAQKVEYSGGLGRQFFHLHWHF	FYYSAQKVEYSGSLGRQFFHLHWHF	1.0	3.0	unscreened	-	4000_7:143175200-143175200 G>A_FYYSAQKVEYSGSLGRQFFHLHWHF
19:9069894-9069894 G>A	0.0	4000	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.P5851L|ENST00000397910,p.P5851L|NM_024690,p.P5851L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C17552T	p.P5851L	ISTETITRLSTFPFVTGSTEMAITN	ISTETITRLSTFLFVTGSTEMAITN	3.0	8.0	unscreened	-	4000_19:9069894-9069894 G>A_ISTETITRLSTFLFVTGSTEMAITN
5:90052422-90052422 G>A	0.0	4000	MELANOMA	-	-	-	-	GPR98	NM_032119,p.G3911E|uc003kjv.3,p.G1511E|ENST00000405460,p.G3911E|uc003kju.3,p.G3911E	retained_intron, protein_coding, processed_transcript	uc003kjv.3	nonsynonymous SNV	exon24	c.G4532A	p.G1511E	AEIMIEENDDPRGIFMFHVTRGAGE	AEIMIEENDDPREIFMFHVTRGAGE	2.0	7.0	unscreened	-	4000_5:90052422-90052422 G>A_AEIMIEENDDPREIFMFHVTRGAGE
6:4037755-4037755 C>T	1.0	4000	MELANOMA	-	-	-	-	PRPF4B	NM_003913,p.L455F|ENST00000480058,p.L455F|ENST00000337659,p.L455F|ENST00000481109,p.L35F|uc003mvv.3,p.L455F|ENST00000538861,p.L441F	protein_coding, processed_transcript, nonsense_mediated_decay	uc003mvv.3	nonsynonymous SNV	exon3	c.C1363T	p.L455F	SRSPIRRRSRSPLRRSRSPRRRSRS	SRSPIRRRSRSPFRRSRSPRRRSRS	10.0	10.0	-	-	4000_6:4037755-4037755 C>T_SRSPIRRRSRSPFRRSRSPRRRSRS
6:6266824-6266824 C>T	0.0	4000	MELANOMA	-	-	-	-	F13A1	uc003mwv.3,p.D180N|uc011dib.2,p.D117N|ENST00000264870,p.D180N|NM_000129,p.D180N	retained_intron, protein_coding	uc011dib.2	nonsynonymous SNV	exon3	c.G349A	p.D117N	YGVLRTSRNPETDTYILFNPWCEDD	YGVLRTSRNPETNTYILFNPWCEDD	5.0	2.0	unscreened	-	4000_6:6266824-6266824 C>T_YGVLRTSRNPETNTYILFNPWCEDD
19:14952364-14952364 C>T	0.0	4000	MELANOMA	-	-	-	-	OR7A10	NM_001005190,p.G109E|ENST00000248058,p.G109E|uc002mzx.1,p.G109E	protein_coding	uc002mzx.1	nonsynonymous SNV	exon1	c.G326A	p.G109E	CITQMCFFLLFVGLDNFLLTVMAYD	CITQMCFFLLFVELDNFLLTVMAYD	1.0	7.0	unscreened	-	4000_19:14952364-14952364 C>T_CITQMCFFLLFVELDNFLLTVMAYD
4:82074829-82074829 C>T	0.0	4000	MELANOMA	-	-	-	-	PRKG2	NM_001282485,p.G320E|uc011cch.1,p.G320E|NM_006259,p.G320E|ENST00000418486,p.G320E|uc003hmh.2,p.G320E|ENST00000395578,p.G320E|ENST00000264399,p.G320E	protein_coding, processed_transcript	uc011cch.1	nonsynonymous SNV	exon7	c.G959A	p.G320E	DKGDYIIREGEEGSTFFILAKGKVK	DKGDYIIREGEEESTFFILAKGKVK	5.0	4.0	unscreened	-	4000_4:82074829-82074829 C>T_DKGDYIIREGEEESTFFILAKGKVK
7:130142534-130142534 G>A	0.0	4000	MELANOMA	-	-	-	-	MEST	ENST00000437945,p.G267R	retained_intron, protein_coding, processed_transcript	ENST00000437945	nonsynonymous SNV	exon10	c.G799A	p.G267R	INQRKKFRRRWVGALASVTIPRKRC	INQRKKFRRRWVRALASVTIPRKRC	5.0	3.0	unscreened	-	4000_7:130142534-130142534 G>A_INQRKKFRRRWVRALASVTIPRKRC
11:32456311-32456311 C>T	0.0	4000	MELANOMA	-	-	-	1	WT1	NM_024424,p.R194K|NM_024426,p.R194K|ENST00000332351,p.R194K|uc001mtq.2,p.R194K|ENST00000452863,p.R194K|ENST00000448076,p.R194K|ENST00000379077,p.R194K|uc001mtn.2,p.R194K|NM_000378,p.R194K|uc001mto.2,p.R194K	protein_coding, nonsense_mediated_decay	uc001mtq.2	nonsynonymous SNV	exon1	c.G581A	p.R194K	PPPPSQASSGQARMFPNAPYLPSCL	PPPPSQASSGQAKMFPNAPYLPSCL	4.0	10.0	unscreened	-	4000_11:32456311-32456311 C>T_PPPPSQASSGQAKMFPNAPYLPSCL
17:74465882-74465882 G>A	0.0	4000	MELANOMA	-	-	-	-	AANAT	ENST00000392492,p.A152T|ENST00000250615,p.A197T|uc021udg.1,p.A197T|uc002jro.3,p.A152T|NM_001166579,p.A197T|NM_001088,p.A152T	protein_coding, nonsense_mediated_decay	uc021udg.1	nonsynonymous SNV	exon7	c.G589A	p.A197T	LWRYLHHLGSQPAVRRAALMCEDAL	LWRYLHHLGSQPTVRRAALMCEDAL	1.0	1.0	unscreened	-	4000_17:74465882-74465882 G>A_LWRYLHHLGSQPTVRRAALMCEDAL
16:22149802-22149802 C>T	0.0	4000	MELANOMA	-	-	-	-	VWA3A	uc010vbq.2,p.P754L|ENST00000389398,p.P754L|NM_173615,p.P754L	retained_intron, protein_coding, nonsense_mediated_decay	uc010vbq.2	nonsynonymous SNV	exon22	c.C2261T	p.P754L	LQLRSQPKKLCPPRPTVPLGARMSI	LQLRSQPKKLCPLRPTVPLGARMSI	3.0	9.0	unscreened	-	4000_16:22149802-22149802 C>T_LQLRSQPKKLCPLRPTVPLGARMSI
1:25166413-25166413 C>T	1.0	4000	MELANOMA	-	-	-	-	CLIC4	ENST00000374379,p.P160S|uc001bjo.2,p.P160S|uc001bjp.1,p.P140S|NM_013943,p.P160S|ENST00000488683,p.P160S	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bjp.1	nonsynonymous SNV	exon5	c.C418T	p.P140S	LQKLDEYLNSPLPDEIDENSMEDIK	LQKLDEYLNSPLSDEIDENSMEDIK	10.0	9.0	-	-	4000_1:25166413-25166413 C>T_LQKLDEYLNSPLSDEIDENSMEDIK
9:128104500-128104500 C>T	1.0	4000	MELANOMA	-	-	-	-	GAPVD1	uc010mwx.3,p.P990S|NM_001282679,p.P990S|ENST00000394105,p.P1017S|uc004bpr.3,p.P969S|ENST00000394104,p.P990S|uc004bpq.3,p.P990S|NM_001282681,p.P969S|NM_015635,p.P1017S|ENST00000297933,p.P990S|uc011lzs.1,p.P990S|ENST00000495955,p.P990S|ENST00000312123,p.P969S|uc004bpp.3,p.P1017S|uc010mwy.1,p.P823S|ENST00000265956,p.P964S|NM_001282680,p.P990S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lzs.1	nonsynonymous SNV	exon18	c.C2968T	p.P990S	WRKRFVSAMPKAPIPFRKKEKQEKD	WRKRFVSAMPKASIPFRKKEKQEKD	9.0	10.0	-	-	4000_9:128104500-128104500 C>T_WRKRFVSAMPKASIPFRKKEKQEKD
6:71570033-71570033 A>T	1.0	4000	MELANOMA	-	-	-	-	SMAP1	NM_001281440,p.K457I|uc010kap.3,p.K457I|ENST00000316999,p.K440I|uc003pfr.3,p.K467I|uc003pfs.3,p.K440I|NM_021940,p.K440I|ENST00000370455,p.K467I|NM_001044305,p.K467I	protein_coding	uc010kap.3	nonsynonymous SNV	exon11	c.A1370T	p.K457I	SSSGQTLSTQLWK	SSSGQTLSTQLWI	8.0	2.0	-	-	4000_6:71570033-71570033 A>T_SSSGQTLSTQLWI
1:9083002-9083002 C>T	0.0	4000	MELANOMA	-	-	ID=COSM3706086;OCCURENCE=2(liver)	-	SLC2A7	uc009vmo.1,p.G96S|NM_207420,p.G96S|ENST00000400906,p.G96S	protein_coding	uc009vmo.1	nonsynonymous SNV	exon3	c.G286A	p.G96S	FPLGGLLGSLLVGLLVDSCGRKGTL	FPLGGLLGSLLVSLLVDSCGRKGTL	1.0	9.0	unscreened	-	4000_1:9083002-9083002 C>T_FPLGGLLGSLLVSLLVDSCGRKGTL
19:22156917-22156917 G>A	1.0	4000	MELANOMA	-	-	-	-	ZNF208	uc021urr.1,p.H307Y|ENST00000397126,p.H307Y|NM_007153,p.H307Y	protein_coding	uc021urr.1	nonsynonymous SNV	exon4	c.C919T	p.H307Y	SKVSTLTTHKAIHAGEKPYKCKECG	SKVSTLTTHKAIYAGEKPYKCKECG	4.0	3.0	-	-	4000_19:22156917-22156917 G>A_SKVSTLTTHKAIYAGEKPYKCKECG
2:187360048-187360048 A>G	1.0	4000	MELANOMA	-	-	-	-	ZC3H15	ENST00000437396,p.Q55R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000437396	nonsynonymous SNV	exon2	c.A164G	p.Q55R	IKAVTHQVKFGQQNPRQDLTYKCLD	IKAVTHQVKFGQRNPRQDLTYKCLD	10.0	4.0	-	-	4000_2:187360048-187360048 A>G_IKAVTHQVKFGQRNPRQDLTYKCLD
10:116201542-116201542 G>A	0.0	4000	MELANOMA	-	-	-	-	ABLIM1	uc021pyz.1,p.S580L	protein_coding, processed_transcript	uc021pyz.1	nonsynonymous SNV	exon18	c.C1739T	p.S580L	RERSSLLASRYDSPINSASHIPSSK	RERSSLLASRYDLPINSASHIPSSK	8.0	6.0	unscreened	-	4000_10:116201542-116201542 G>A_RERSSLLASRYDLPINSASHIPSSK
8:62366725-62366725 G>A	0.0	4000	MELANOMA	-	-	-	-	CLVS1	ENST00000519846,p.G219E|NM_173519,p.G219E|uc003xuh.3,p.G219E|ENST00000325897,p.G219E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xuh.3	nonsynonymous SNV	exon4	c.G656A	p.G219E	EGLQDSFPARFGGVHFVNQPWYIHA	EGLQDSFPARFGEVHFVNQPWYIHA	2.0	1.0	unscreened	-	4000_8:62366725-62366725 G>A_EGLQDSFPARFGEVHFVNQPWYIHA
7:143094661-143094661 G>A	0.0	4000	MELANOMA	0.0005	-	-	-	EPHA1	NM_005232,p.R569W|uc003wcz.3,p.R569W|ENST00000275815,p.R569W	retained_intron, protein_coding, processed_transcript	uc003wcz.3	nonsynonymous SNV	exon9	c.C1705T	p.R569W	LGAALLLGILVFRSRRAQRQRQQRQ	LGAALLLGILVFWSRRAQRQRQQRQ	5.0	1.0	unscreened	-	4000_7:143094661-143094661 G>A_LGAALLLGILVFWSRRAQRQRQQRQ
13:74420476-74420476 G>A	1.0	4000	MELANOMA	-	-	-	-	KLF12	NM_007249,p.A53V|ENST00000377666,p.A53V|uc001vjf.3,p.A53V|uc031qme.1,p.A53V|ENST00000377669,p.A53V|uc010aeq.3,p.A53V|uc001vjg.3,p.A53V	protein_coding, processed_transcript	uc031qme.1	nonsynonymous SNV	exon4	c.C158T	p.A53V	GSPNVHNYPDMEAVPLLLNNVKGEP	GSPNVHNYPDMEVVPLLLNNVKGEP	8.0	9.0	-	-	4000_13:74420476-74420476 G>A_GSPNVHNYPDMEVVPLLLNNVKGEP
5:36677133-36677133 G>A	0.0	4000	MELANOMA	-	-	-	-	SLC1A3	uc011cox.2,p.G129E|NM_001166695,p.G236E|uc010iuy.3,p.G236E|ENST00000381918,p.G236E|ENST00000265113,p.G236E|NM_001289939,p.G190E|NM_004172,p.G236E|uc003jkj.4,p.G236E	retained_intron, protein_coding, processed_transcript	uc011cox.2	nonsynonymous SNV	exon5	c.G386A	p.G129E	LTRITEELVPVPGSVNGVNALGLVV	LTRITEELVPVPESVNGVNALGLVV	10.0	5.0	unscreened	-	4000_5:36677133-36677133 G>A_LTRITEELVPVPESVNGVNALGLVV
6:47779459-47779459 C>T	0.0	4000	MELANOMA	-	-	-	-	OPN5	ENST00000393699,p.H350Y	protein_coding, processed_transcript	ENST00000393699	nonsynonymous SNV	exon6	c.C1048T	p.H350Y	TTVRKSSAVLEIHEEV	TTVRKSSAVLEIYEEV	1.0	2.0	unscreened	-	4000_6:47779459-47779459 C>T_TTVRKSSAVLEIYEEV
7:103292204-103292204 C>T	0.0	4000	MELANOMA	0.0005	-	-	-	RELN	uc022ajq.1,p.R599H|NM_005045,p.R599H|uc010liz.3,p.R599H|ENST00000343529,p.R599H|NM_173054,p.R599H|ENST00000428762,p.R599H|uc022ajr.1,p.R599H|ENST00000424685,p.R599H	retained_intron, protein_coding, processed_transcript	uc022ajr.1	nonsynonymous SNV	exon15	c.G1796A	p.R599H	NSVSLEFSTNHGRSWSLLHTECLPE	NSVSLEFSTNHGHSWSLLHTECLPE	2.0	8.0	unscreened	-	4000_7:103292204-103292204 C>T_NSVSLEFSTNHGHSWSLLHTECLPE
11:123754054-123754054 G>A	0.0	4000	MELANOMA	-	-	-	-	TMEM225	uc001pzi.3,p.L157F|ENST00000528595,p.L107F|NM_001013743,p.L157F|ENST00000375026,p.L157F	protein_coding	uc001pzi.3	nonsynonymous SNV	exon4	c.C469T	p.L157F	YLNVFFLSVCGVLSLLECKLSTSSC	YLNVFFLSVCGVFSLLECKLSTSSC	1.0	10.0	unscreened	-	4000_11:123754054-123754054 G>A_YLNVFFLSVCGVFSLLECKLSTSSC
4:165961352-165961352 C>T	0.0	4000	MELANOMA	-	-	-	-	TRIM60	NM_152620,p.S43F|NM_001258025,p.S43F|uc021xty.1,p.S43F|uc010iqx.2,p.S43F|ENST00000508504,p.S43F|ENST00000507119,p.S43F|uc003iqy.1,p.S43F|ENST00000341062,p.S43F|ENST00000512596,p.S43F	protein_coding	uc021xty.1	nonsynonymous SNV	exon1	c.C128T	p.S43F	CGHNFCRSCLSVSWKDLDDTFPCPV	CGHNFCRSCLSVFWKDLDDTFPCPV	1.0	3.0	unscreened	-	4000_4:165961352-165961352 C>T_CGHNFCRSCLSVFWKDLDDTFPCPV
16:22149802-22149802 C>T	0.0	4000	MELANOMA	-	-	-	-	VWA3A	ENST00000563389,p.P136L	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000563389	nonsynonymous SNV	exon4	c.C407T	p.P136L	LQLRSQPKKLCPPRPTVPLGARMV	LQLRSQPKKLCPLRPTVPLGARMV	3.0	9.0	unscreened	-	4000_16:22149802-22149802 C>T_LQLRSQPKKLCPLRPTVPLGARMV
X:105152781-105152781 G>A	0.0	4000	MELANOMA	-	-	-	-	NRK	NM_198465,p.R383K|uc010npc.1,p.R51K|ENST00000428173,p.R384K|uc004emd.3,p.R383K|ENST00000243300,p.R383K	protein_coding	uc010npc.1	nonsynonymous SNV	exon13	c.G152A	p.R51K	LRLPTSSRCRPLRVLHGEPSQPRWL	LRLPTSSRCRPLKVLHGEPSQPRWL	2.0	10.0	unscreened	-	4000_X:105152781-105152781 G>A_LRLPTSSRCRPLKVLHGEPSQPRWL
10:90499796-90499796 C>T	0.0	4000	MELANOMA	-	-	-	-	LIPK	ENST00000404190,p.S287F|uc010qmv.2,p.S287F|NM_001080518,p.S287F	protein_coding	uc010qmv.2	nonsynonymous SNV	exon7	c.C860T	p.S287F	LDVYLSHNPAGTSVQNMLHWAQAVN	LDVYLSHNPAGTFVQNMLHWAQAVN	1.0	5.0	unscreened	-	4000_10:90499796-90499796 C>T_LDVYLSHNPAGTFVQNMLHWAQAVN
6:55039521-55039521 G>A	0.0	4000	MELANOMA	-	-	-	-	HCRTR2	NM_001526,p.E46K|uc003pcl.3,p.E46K|ENST00000370862,p.E46K	protein_coding	uc003pcl.3	nonsynonymous SNV	exon1	c.G136A	p.E46K	YDDEEFLRYLWREYLHPKEYEWVLI	YDDEEFLRYLWRKYLHPKEYEWVLI	1.0	10.0	unscreened	-	4000_6:55039521-55039521 G>A_YDDEEFLRYLWRKYLHPKEYEWVLI
2:179595501-179595501 G>A	0.0	4000	MELANOMA	-	-	-	-	TTN	uc002umz.1,p.S1337L|ENST00000342992,p.S4676L|ENST00000591111,p.S5603L|NM_001267550,p.S5920L|NM_001256850,p.S5603L|NM_133378,p.S4676L|uc031rqd.1,p.S5603L|uc031rqc.1,p.S5920L|ENST00000589042,p.S5920L|uc021vsy.2,p.S4676L	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon59	c.C16808T	p.S5603L	ARINVLDLIIPPSFTKKLKKMDSIK	ARINVLDLIIPPLFTKKLKKMDSIK	6.0	7.0	unscreened	-	4000_2:179595501-179595501 G>A_ARINVLDLIIPPLFTKKLKKMDSIK
X:54209519-54209521 TGC>-	0.0	4000	MELANOMA	-	-	-	-	FAM120C	uc004dta.2,p.37_38del|NM_017848,p.37_38del|ENST00000375180,p.37_38del|uc011moh.2,p.37_38del|uc004dsz.4,p.37_38del|NM_001300788,p.37_38del|ENST00000477084,p.37_38del|NM_198456,p.37_38del|ENST00000328235,p.37_38del	protein_coding, processed_transcript	uc011moh.2	nonframeshift deletion	exon1	c.111_113del	p.37_38del	KLARTVSRQQQQQHLHRQLPPTAAL	KLARTVSRQQQQHLHRQLPPTAALA	6.0	1.0	unscreened	-	4000_X:54209519-54209521 TGC>-_KLARTVSRQQQQHLHRQLPPTAALA
11:55658930-55658930 C>A	0.0	4000	MELANOMA	-	-	-	-	TRIM51	uc010rip.2,p.T394N|NM_032681,p.T394N|ENST00000244891,p.T251N|uc010riq.2,p.T251N|ENST00000449290,p.T394N	protein_coding	uc010riq.2	nonsynonymous SNV	exon5	c.C752A	p.T251N	CVKEDTHCSLFTTSPLVVQYVPRPT	CVKEDTHCSLFTNSPLVVQYVPRPT	1.0	1.0	unscreened	-	4000_11:55658930-55658930 C>A_CVKEDTHCSLFTNSPLVVQYVPRPT
11:55904809-55904809 G>A	0.0	4000	MELANOMA	-	-	-	-	OR8J3	NM_001004064,p.P129L|uc010riz.2,p.P129L|ENST00000301529,p.P129L	protein_coding	uc010riz.2	nonsynonymous SNV	exon1	c.C386T	p.P129L	VMAYDRYVAICNPLLYMVVVSRRLC	VMAYDRYVAICNLLLYMVVVSRRLC	1.0	2.0	unscreened	-	4000_11:55904809-55904809 G>A_VMAYDRYVAICNLLLYMVVVSRRLC
9:139637265-139637265 C>T	0.0	4000	MELANOMA	-	-	-	-	LCN10	uc010nbq.3,p.E31K|ENST00000341040,p.E31K|NM_001001712,p.E31K|uc011mee.2,p.E31K|ENST00000497771,p.E31K|ENST00000527229,p.E31K|ENST00000474369,p.E31K|uc004civ.3,p.E31K	retained_intron, protein_coding, nonsense_mediated_decay	uc011mee.2	nonsynonymous SNV	exon1	c.G91A	p.E31K	AAGSQVQEWYPRESHALNWNKFSGF	AAGSQVQEWYPRKSHALNWNKFSGF	4.0	9.0	unscreened	-	4000_9:139637265-139637265 C>T_AAGSQVQEWYPRKSHALNWNKFSGF
6:25915972-25915972 G>A	0.0	4000	MELANOMA	-	-	-	-	SLC17A2	uc003nfl.3,p.S352L|NM_001286125,p.S352L|NM_005835,p.S352L|ENST00000360488,p.S352L|uc011dkc.2,p.S352L	protein_coding	uc011dkc.2	nonsynonymous SNV	exon8	c.C1055T	p.S352L	NLLRLITVRKLFSSLDMQVSSWESQ	NLLRLITVRKLFLSLDMQVSSWESQ	1.0	2.0	unscreened	-	4000_6:25915972-25915972 G>A_NLLRLITVRKLFLSLDMQVSSWESQ
1:54610219-54610219 G>A	0.0	4000	MELANOMA	-	-	-	-	CDCP2	ENST00000371330,p.S116F|uc001cwv.2,p.S116F|NM_201546,p.S116F	protein_coding, processed_transcript	uc001cwv.2	nonsynonymous SNV	exon2	c.C347T	p.S116F	RFCGKVPPPPFTSSWHVMSVIFHSD	RFCGKVPPPPFTFSWHVMSVIFHSD	1.0	4.0	unscreened	-	4000_1:54610219-54610219 G>A_RFCGKVPPPPFTFSWHVMSVIFHSD
4:40155828-40155828 C>T	0.0	4000	MELANOMA	-	-	-	-	N4BP2	uc010ifr.3,p.P1665S|uc010ifq.3,p.P1682S|NM_018177,p.P1762S|uc003guy.4,p.P1762S|ENST00000261435,p.P1762S	protein_coding, nonsense_mediated_decay	uc010ifr.3	nonsynonymous SNV	exon15	c.C4993T	p.P1665S	LISHSFRFSEIKPGCLKVMLK	LISHSFRFSEIKSGCLKVMLK	7.0	1.0	unscreened	-	4000_4:40155828-40155828 C>T_LISHSFRFSEIKSGCLKVMLK
5:89979611-89979611 C>T	0.0	4000	MELANOMA	-	-	-	-	GPR98	ENST00000405460,p.S1958F|NM_032119,p.S1958F|uc003kju.3,p.S1958F	retained_intron, protein_coding, processed_transcript	uc003kju.3	nonsynonymous SNV	exon28	c.C5873T	p.S1958F	AFSVSVLSVSSGSLGAHINATLTVL	AFSVSVLSVSSGFLGAHINATLTVL	2.0	3.0	unscreened	-	4000_5:89979611-89979611 C>T_AFSVSVLSVSSGFLGAHINATLTVL
12:51279116-51279116 T>C	0.0	4000	MELANOMA	-	-	-	-	TMPRSS12	uc001rwy.3,p.I247T|ENST00000398458,p.I247T|NM_182559,p.I247T|ENST00000551456,p.I247T|uc001rwx.4,p.I247T	protein_coding	uc001rwy.3	nonsynonymous SNV	exon4	c.T740C	p.I247T	EMCNSERSYGGIIPNTSFCAGDEDG	EMCNSERSYGGITPNTSFCAGDEDG	1.0	2.0	unscreened	-	4000_12:51279116-51279116 T>C_EMCNSERSYGGITPNTSFCAGDEDG
2:128335831-128335831 A>G	0.0	4000	MELANOMA	-	-	-	-	MYO7B	NM_001080527,p.I325V|ENST00000389524,p.I325V|uc002top.3,p.I325V|ENST00000409816,p.I325V|ENST00000428314,p.I325V	retained_intron, protein_coding	uc002top.3	nonsynonymous SNV	exon9	c.A973G	p.I325V	SESWDVIKLLAAILHLGNVGFMASV	SESWDVIKLLAAVLHLGNVGFMASV	3.0	5.0	unscreened	-	4000_2:128335831-128335831 A>G_SESWDVIKLLAAVLHLGNVGFMASV
19:53552584-53552584 C>T	0.0	4000	MELANOMA	-	-	-	-	ERVV-2	NM_001191055,p.S27F|uc031rmt.1,p.S27F|uc021uzd.1,p.S27F|ENST00000601417,p.S27F	protein_coding	uc031rmt.1	nonsynonymous SNV	exon1	c.C80T	p.S27F	MPLLSQAQWNENSLVSFSKIIASGN	MPLLSQAQWNENFLVSFSKIIASGN	1.0	3.0	unscreened	-	4000_19:53552584-53552584 C>T_MPLLSQAQWNENFLVSFSKIIASGN
13:84453941-84453941 C>T	0.0	4000	MELANOMA	-	-	-	-	SLITRK1	NM_001281503,p.D568N|NM_052910,p.D568N|ENST00000377084,p.D568N|uc001vlk.3,p.D568N	protein_coding	uc001vlk.3	nonsynonymous SNV	exon1	c.G1702A	p.D568N	LKCETPVNFFRKDFMLLSNDEICPQ	LKCETPVNFFRKNFMLLSNDEICPQ	2.0	1.0	unscreened	-	4000_13:84453941-84453941 C>T_LKCETPVNFFRKNFMLLSNDEICPQ
2:179592545-179592545 G>A	0.0	4000	MELANOMA	-	-	-	-	TTN	uc021vsy.2,p.P5343L|NM_001256850,p.P6270L|uc002umz.1,p.P2004L|uc031rqd.1,p.P6270L|ENST00000342992,p.P5343L|ENST00000589042,p.P6587L|uc031rqc.1,p.P6587L|NM_001267550,p.P6587L|ENST00000591111,p.P6270L|NM_133378,p.P5343L	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon66	c.C18809T	p.P6270L	SFLVKPGRQQAIPDSTVEFKAILKG	SFLVKPGRQQAILDSTVEFKAILKG	6.0	4.0	unscreened	-	4000_2:179592545-179592545 G>A_SFLVKPGRQQAILDSTVEFKAILKG
5:140189093-140189093 C>T	0.0	4000	MELANOMA	-	-	-	-	PCDHA4	ENST00000356878,p.P774L|NM_031500,p.P774L|ENST00000530339,p.P774L|NM_018907,p.P774L|uc003lhh.1,p.P774L|uc003lhi.2,p.P774L|uc011daa.2,p.P774L|ENST00000512229,p.P774L	protein_coding	uc011daa.2	nonsynonymous SNV	exon1	c.C2321T	p.P774L	EGPPKTDLMAFSPSLPDSRDREDQL	EGPPKTDLMAFSLSLPDSRDREDQL	3.0	1.0	unscreened	-	4000_5:140189093-140189093 C>T_EGPPKTDLMAFSLSLPDSRDREDQL
8:107531236-107531236 G>A	0.0	4000	MELANOMA	-	-	-	-	OXR1	ENST00000445937,p.G30E|ENST00000442977,p.G31E|NM_018002,p.G30E|NM_001198533,p.G30E|ENST00000531443,p.G30E|ENST00000517566,p.G30E|uc022azp.1,p.G30E|NM_001198532,p.G31E|uc011lht.2,p.G31E|uc003ymf.3,p.G30E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022azp.1	nonsynonymous SNV	exon3	c.G89A	p.G30E	INAPGFNPLAGAGKQTPQASKPPAP	INAPGFNPLAGAEKQTPQASKPPAP	9.0	2.0	unscreened	-	4000_8:107531236-107531236 G>A_INAPGFNPLAGAEKQTPQASKPPAP
6:138202176-138202176 C>T	1.0	4000	MELANOMA	-	-	-	1	TNFAIP3	uc031spw.1,p.S698L|uc031spv.1,p.S698L|NM_006290,p.S698L|NM_001270507,p.S698L|uc003qhr.4,p.S698L|ENST00000237289,p.S698L|NM_001270508,p.S698L|uc003qhs.4,p.S698L	protein_coding, processed_transcript	uc031spw.1	nonsynonymous SNV	exon9	c.C2093T	p.S698L	FHEAKRTEEQLRSSQRRDVPRTTQS	FHEAKRTEEQLRLSQRRDVPRTTQS	10.0	6.0	-	-	4000_6:138202176-138202176 C>T_FHEAKRTEEQLRLSQRRDVPRTTQS
10:78870077-78870077 C>T	0.0	4000	MELANOMA	-	-	-	-	KCNMA1	ENST00000372443,p.E329K|uc001jxo.3,p.E329K|ENST00000404857,p.E329K|NM_002247,p.E329K|uc001jxq.3,p.E329K|NM_001271519,p.E329K|NM_001271518,p.E275K|ENST00000457953,p.E303K|ENST00000286628,p.E329K|NM_001161353,p.E329K|uc009xrt.1,p.E149K|ENST00000406533,p.E329K|ENST00000354353,p.E329K|ENST00000604624,p.E190K|ENST00000286627,p.E329K|NM_001014797,p.E329K|NM_001161352,p.E329K|ENST00000372440,p.E329K|ENST00000404771,p.E329K|uc001jxn.3,p.E329K|uc001jxj.2,p.E329K|ENST00000372408,p.E266K|uc021ptu.1,p.E275K|uc001jxm.3,p.E329K|ENST00000372437,p.E264K	protein_coding, processed_transcript	uc021ptu.1	nonsynonymous SNV	exon7	c.G823A	p.E275K	FIHLVENSGDPWENFQNNQALTYWE	FIHLVENSGDPWKNFQNNQALTYWE	8.0	2.0	unscreened	-	4000_10:78870077-78870077 C>T_FIHLVENSGDPWKNFQNNQALTYWE
19:17918894-17918894 C>T	0.0	4000	MELANOMA	-	-	-	-	B3GNT3	ENST00000600777,p.P93L|NM_014256,p.P93L|uc010ebe.1,p.P93L|ENST00000599265,p.P93L|ENST00000318683,p.P93L|ENST00000595387,p.P93L|uc002nhl.1,p.P93L|uc010ebd.1,p.P93L	protein_coding	uc010ebe.1	nonsynonymous SNV	exon2	c.C278T	p.P93L	QNFLLYRHCRHFPLLQDVPPSKCAQ	QNFLLYRHCRHFLLLQDVPPSKCAQ	1.0	4.0	unscreened	-	4000_19:17918894-17918894 C>T_QNFLLYRHCRHFLLLQDVPPSKCAQ
20:18396035-18396035 G>A	0.0	4000	MELANOMA	-	-	-	-	DZANK1	ENST00000377630,p.S165F|uc002wqs.4,p.S224F|NM_001099407,p.S338F|ENST00000357236,p.S224F|ENST00000329494,p.S340F|uc002wqq.4,p.S338F|ENST00000262547,p.S338F|uc010zsa.2,p.S357F	protein_coding, processed_transcript	uc010zsa.2	nonsynonymous SNV	exon11	c.C1070T	p.S357F	APPPPTQKGGTISCYRCGRWNLWEA	APPPPTQKGGTIFCYRCGRWNLWEA	6.0	5.0	unscreened	-	4000_20:18396035-18396035 G>A_APPPPTQKGGTIFCYRCGRWNLWEA
19:51297165-51297165 C>T	0.0	4000	MELANOMA	-	-	-	-	ACPT	ENST00000270593,p.L267F|ENST00000270594,p.L174F|uc002pta.1,p.L267F|NM_033068,p.L267F	protein_coding	uc002pta.1	nonsynonymous SNV	exon8	c.C799T	p.L267F	AQLTGGILLNAILANFSRVQRLGLP	AQLTGGILLNAIFANFSRVQRLGLP	1.0	2.0	unscreened	-	4000_19:51297165-51297165 C>T_AQLTGGILLNAIFANFSRVQRLGLP
16:76572084-76572086 AAC>-	0.0	4000	MELANOMA	-	-	-	-	CNTNAP4	NM_138994,p.950_950del|ENST00000478060,p.950_950del|ENST00000476707,p.1026_1026del|ENST00000307431,p.1022_1022del|uc002feu.1,p.1022_1022del|ENST00000377504,p.974_974del|uc010chb.1,p.950_950del|uc002fex.1,p.1026_1026del|uc002fev.1,p.887_887del	retained_intron, protein_coding, processed_transcript, TEC	uc010chb.1	nonframeshift deletion	exon18	c.2848_2850del	p.950_950del	IYNFQENYLLSKNSSSHAASFHGDM	IYNFQENYLLSKSSSHAASFHGDMK	1.0	3.0	unscreened	-	4000_16:76572084-76572086 AAC>-_IYNFQENYLLSKSSSHAASFHGDMK
17:46607834-46607834 C>T	0.0	4000	MELANOMA	-	-	ID=COSM3958483;OCCURENCE=1(lung)	-	HOXB1	ENST00000239174,p.G145R|uc002ink.1,p.G145R|ENST00000577092,p.G145R|NM_002144,p.G145R|uc021tzf.1,p.G145R	protein_coding	uc021tzf.1	nonsynonymous SNV	exon1	c.G433A	p.G145R	GPGPYPPQHPPYGNEQTASFAPAYA	GPGPYPPQHPPYRNEQTASFAPAYA	1.0	1.0	unscreened	-	4000_17:46607834-46607834 C>T_GPGPYPPQHPPYRNEQTASFAPAYA
12:6782529-6782529 G>A	1.0	4000	MELANOMA	-	-	-	1	ZNF384	ENST00000417772,p.P286L|ENST00000396799,p.P255L|NM_001135734,p.P255L|NM_001039920,p.P200L|ENST00000396801,p.P255L|ENST00000319770,p.P239L|NM_133476,p.P255L|uc009zew.1,p.P141L|uc010sfh.2,p.P255L|uc001qqa.3,p.P255L|ENST00000396795,p.P255L|ENST00000361959,p.P255L|ENST00000436774,p.P239L|uc001qqd.3,p.P200L|ENST00000355772,p.P200L	protein_coding, processed_transcript	uc010sfh.2	nonsynonymous SNV	exon7	c.C764T	p.P255L	MQIHSKSHTETKPHKCPHCSKTFAN	MQIHSKSHTETKLHKCPHCSKTFAN	9.0	7.0	-	-	4000_12:6782529-6782529 G>A_MQIHSKSHTETKLHKCPHCSKTFAN
5:140503897-140503897 C>T	0.0	4000	MELANOMA	-	-	-	-	PCDHB4	uc003lip.1,p.L773F|NM_018938,p.L773F|ENST00000194152,p.L773F	protein_coding	uc003lip.1	nonsynonymous SNV	exon1	c.C2317T	p.L773F	GEFKFLKPIFPNLLVQDTGREVKEN	GEFKFLKPIFPNFLVQDTGREVKEN	3.0	10.0	unscreened	-	4000_5:140503897-140503897 C>T_GEFKFLKPIFPNFLVQDTGREVKEN
1:3413915-3413915 C>T	0.0	4000	MELANOMA	-	-	-	-	MEGF6	ENST00000485002,p.G1172E	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000485002	nonsynonymous SNV	exon28	c.G3515A	p.G1172E	WRGAPGVRMPACGAGLERPVPSAAA	WRGAPGVRMPACEAGLERPVPSAAA	6.0	6.0	unscreened	-	4000_1:3413915-3413915 C>T_WRGAPGVRMPACEAGLERPVPSAAA
6:47779459-47779459 C>T	0.0	4000	MELANOMA	-	-	-	-	OPN5	ENST00000489301,p.H350Y	protein_coding, processed_transcript	ENST00000489301	nonsynonymous SNV	exon6	c.C1048T	p.H350Y	TTVRKSSAVLEIHEEGRNKSASPNN	TTVRKSSAVLEIYEEGRNKSASPNN	1.0	2.0	unscreened	-	4000_6:47779459-47779459 C>T_TTVRKSSAVLEIYEEGRNKSASPNN
17:11666863-11666863 G>A	0.0	4000	MELANOMA	-	-	ID=COSM110026;OCCURENCE=2(skin)	-	DNAH9	ENST00000454412,p.E2368K|ENST00000262442,p.E2368K|uc010coo.3,p.E1662K|uc002gne.3,p.E2368K|NM_001372,p.E2368K	retained_intron, protein_coding, processed_transcript	uc010coo.3	nonsynonymous SNV	exon24	c.G4984A	p.E1662K	LTTEDIPADCPKEIYEHYFVFAAIW	LTTEDIPADCPKKIYEHYFVFAAIW	4.0	1.0	unscreened	-	4000_17:11666863-11666863 G>A_LTTEDIPADCPKKIYEHYFVFAAIW
2:230127463-230127463 G>A	0.0	4000	MELANOMA	-	-	-	-	PID1	NM_017933,p.P20L|ENST00000392054,p.P20L|uc002vps.4,p.P20L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002vps.4	nonsynonymous SNV	exon2	c.C59T	p.P20L	HLMLEESRTCSSPELLDGVWPCQPL	HLMLEESRTCSSLELLDGVWPCQPL	3.0	5.0	unscreened	-	4000_2:230127463-230127463 G>A_HLMLEESRTCSSLELLDGVWPCQPL
17:57057488-57057488 A>C	1.0	4000	MELANOMA	-	-	-	-	PPM1E	NM_014906,p.K455T|uc010ddd.4,p.K218T|ENST00000308249,p.K455T|uc002iwx.4,p.K455T	protein_coding	uc010ddd.4	nonsynonymous SNV	exon6	c.A653C	p.K218T	PDEAVKVVSDHLKENNGDSSMVAHK	PDEAVKVVSDHLTENNGDSSMVAHK	5.0	9.0	-	-	4000_17:57057488-57057488 A>C_PDEAVKVVSDHLTENNGDSSMVAHK
6:99771425-99771425 C>T	1.0	4000	MELANOMA	-	-	-	-	FAXC	uc003ppj.4,p.G240R|NM_032511,p.G240R|ENST00000389677,p.G240R	protein_coding, processed_transcript	uc003ppj.4	nonsynonymous SNV	exon4	c.G718A	p.G240R	NLLRWVVCHITKGIVKREMHGHGIG	NLLRWVVCHITKRIVKREMHGHGIG	5.0	9.0	-	-	4000_6:99771425-99771425 C>T_NLLRWVVCHITKRIVKREMHGHGIG
6:72975146-72975146 C>T	0.0	4000	MELANOMA	-	-	-	-	RIMS1	ENST00000521978,p.S1083F|NM_014989,p.S1083F|uc003pga.4,p.S1083F	retained_intron, protein_coding, processed_transcript	uc003pga.4	nonsynonymous SNV	exon21	c.C3248T	p.S1083F	HTKTKSVTRQDISLHHECFNSTVLR	HTKTKSVTRQDIFLHHECFNSTVLR	1.0	2.0	unscreened	-	4000_6:72975146-72975146 C>T_HTKTKSVTRQDIFLHHECFNSTVLR
4:175598335-175598335 G>A	0.0	4000	MELANOMA	-	-	ID=COSM2149942;OCCURENCE=2(central_nervous_system)	-	GLRA3	NM_001042543,p.S274L|uc003ity.1,p.S274L|NM_006529,p.S274L|ENST00000340217,p.S274L|uc003itz.1,p.S274L|ENST00000274093,p.S274L	protein_coding, processed_transcript	uc003itz.1	nonsynonymous SNV	exon7	c.C821T	p.S274L	IPSLLIVILSWVSFWINMDAAPARV	IPSLLIVILSWVLFWINMDAAPARV	1.0	7.0	unscreened	-	4000_4:175598335-175598335 G>A_IPSLLIVILSWVLFWINMDAAPARV
6:55147205-55147205 A>G	0.0	4000	MELANOMA	-	-	-	-	HCRTR2	uc003pcl.3,p.S430G|ENST00000370862,p.S430G|NM_001526,p.S430G	protein_coding	uc003pcl.3	nonsynonymous SNV	exon7	c.A1288G	p.S430G	SKLSEQVVLTSISTLPAANGAGPLQ	SKLSEQVVLTSIGTLPAANGAGPLQ	1.0	10.0	unscreened	-	4000_6:55147205-55147205 A>G_SKLSEQVVLTSIGTLPAANGAGPLQ
19:38980903-38980903 C>T	0.0	4000	MELANOMA	-	-	-	-	RYR1	NM_001042723,p.P2001L|uc002oiu.3,p.P2001L|uc002oit.3,p.P2001L|ENST00000355481,p.P2001L|ENST00000359596,p.P2001L|NM_000540,p.P2001L|ENST00000360985,p.P2001L	retained_intron, protein_coding, nonsense_mediated_decay	uc002oiu.3	nonsynonymous SNV	exon36	c.C6002T	p.P2001L	AETARRTREFRSPPQEQINMLLQFK	AETARRTREFRSLPQEQINMLLQFK	4.0	9.0	unscreened	-	4000_19:38980903-38980903 C>T_AETARRTREFRSLPQEQINMLLQFK
4:8046937-8046937 G>A	0.0	4000	MELANOMA	-	-	-	-	ABLIM2	uc011bwl.1,p.S290F|ENST00000447017,p.S285F|uc003gko.3,p.S285F|NM_001130084,p.S285F|uc003gkr.3,p.S285F|ENST00000407564,p.S285F|NM_001130087,p.S285F|NM_001130085,p.S285F|ENST00000428004,p.S285F|ENST00000341937,p.S285F|ENST00000296372,p.S285F|NM_001130088,p.S285F|NM_001130086,p.S285F|NM_001286688,p.S42F|ENST00000514025,p.S42F|NM_032432,p.S285F|ENST00000510277,p.S42F|NM_001130083,p.S285F|uc003gkl.3,p.S35F|uc003gks.3,p.S285F|ENST00000361581,p.S285F|ENST00000318888,p.S42F|ENST00000361737,p.S285F|ENST00000546334,p.S285F|uc003gkq.3,p.S285F|uc003gkp.3,p.S285F|ENST00000505872,p.S285F|uc003gkm.4,p.S285F|ENST00000545242,p.S285F|uc003gkj.4,p.S285F	retained_intron, protein_coding, processed_transcript	uc011bwl.1	nonsynonymous SNV	exon9	c.C869T	p.S290F	NKETRTSSESIISVPASSTSGSPSR	NKETRTSSESIIFVPASSTSGSPSR	3.0	4.0	unscreened	-	4000_4:8046937-8046937 G>A_NKETRTSSESIIFVPASSTSGSPSR
15:50152417-50152417 ->AAAGCTGC	0.0	4000	MELANOMA	-	-	-	-	ATP8B4	uc010ufd.2,p.S995fs|NM_024837,p.S1185fs|ENST00000284509,p.S1185fs|ENST00000559829,p.S1185fs|uc001zxu.3,p.S1185fs|uc010ber.3,p.S1058fs|uc001zxt.3,p.S188fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ufd.2	frameshift insertion	exon28	c.2982_2983insGCAGCTTT	p.S995fs	LCKKTTDTVSSFSQDKTVKL	LCKKTTDTVSSFAALARIKQ	6.0	6.0	unscreened	-	4000_15:50152417-50152417 ->AAAGCTGC_LCKKTTDTVSSFAALARIKQ
7:19184873-19184873 G>A	0.0	4000	MELANOMA	-	-	-	-	FERD3L	uc003suo.1,p.S38F|ENST00000275461,p.S38F|NM_152898,p.S38F	protein_coding	uc003suo.1	nonsynonymous SNV	exon1	c.C113T	p.S38F	RRPLLCDFAPGVSLGDPALALREGR	RRPLLCDFAPGVFLGDPALALREGR	1.0	7.0	unscreened	-	4000_7:19184873-19184873 G>A_RRPLLCDFAPGVFLGDPALALREGR
19:51528017-51528017 C>G	0.0	4000	MELANOMA	-	-	-	-	KLK11	uc002pvc.4,p.G25A|NM_006853,p.G25A|ENST00000598799,p.G25A|uc002pvd.1,p.G57A|NM_001167605,p.G25A|uc002pvf.1,p.G25A|ENST00000601671,p.G25A|ENST00000319720,p.G25A|uc010eom.3,p.G25A|ENST00000453757,p.G25A|ENST00000391804,p.G25A|ENST00000319756,p.G57A|NM_144947,p.G57A|uc002pvb.2,p.G25A|NM_001136032,p.G25A|ENST00000594768,p.G57A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010eom.3	nonsynonymous SNV	exon3	c.G74C	p.G25A	TGLVGGETRIIKGFECKPHSQPWQA	TGLVGGETRIIKAFECKPHSQPWQA	1.0	1.0	unscreened	-	4000_19:51528017-51528017 C>G_TGLVGGETRIIKAFECKPHSQPWQA
2:98994253-98994253 G>A	0.0	4000	MELANOMA	-	-	-	-	CNGA3	ENST00000436404,p.G69R|NM_001079878,p.G69R|ENST00000272602,p.G69R|NM_001298,p.G69R|uc002syu.3,p.G69R|uc002syt.3,p.G69R|ENST00000393504,p.G69R	retained_intron, protein_coding	uc002syu.3	nonsynonymous SNV	exon3	c.G205A	p.G69R	LADSGQGSFTGQGIARLSRLIFLLR	LADSGQGSFTGQRIARLSRLIFLLR	1.0	10.0	unscreened	-	4000_2:98994253-98994253 G>A_LADSGQGSFTGQRIARLSRLIFLLR
6:49976895-49976895 C>T	0.0	4000	MELANOMA	-	-	-	-	DEFB110	ENST00000393660,p.D49N|uc011dwr.2,p.D49N|NM_001037728,p.D49N	protein_coding	uc011dwr.2	nonsynonymous SNV	exon2	c.G145A	p.D49N	GICKTFCDDVEYDYGYCIKWRSQCC	GICKTFCDDVEYNYGYCIKWRSQCC	1.0	1.0	unscreened	-	4000_6:49976895-49976895 C>T_GICKTFCDDVEYNYGYCIKWRSQCC
11:130297942-130297942 C>G	0.0	4000	MELANOMA	-	-	-	-	ADAMTS8	NM_007037,p.K80N|ENST00000257359,p.K80N|uc001qgg.4,p.K80N	retained_intron, protein_coding	uc001qgg.4	nonsynonymous SNV	exon1	c.G240C	p.K80N	LAPDDSFLAPEFKIERLGGSGRATG	LAPDDSFLAPEFNIERLGGSGRATG	1.0	10.0	unscreened	-	4000_11:130297942-130297942 C>G_LAPDDSFLAPEFNIERLGGSGRATG
8:102570820-102570820 C>T	0.0	4000	MELANOMA	-	-	-	-	GRHL2	uc011lhi.1,p.S153L|ENST00000395927,p.S137L|ENST00000251808,p.S153L|uc010mbu.3,p.S153L|NM_024915,p.S153L	retained_intron, protein_coding, processed_transcript	uc011lhi.1	nonsynonymous SNV	exon4	c.C458T	p.S153L	ISFPESSAIIPVSGITVVKAEDFTP	ISFPESSAIIPVLGITVVKAEDFTP	1.0	10.0	unscreened	-	4000_8:102570820-102570820 C>T_ISFPESSAIIPVLGITVVKAEDFTP
6:29342680-29342680 G>A	0.0	4000	MELANOMA	-	-	-	-	OR12D3	ENST00000396806,p.R129C|uc003nme.3,p.R129C|NM_030959,p.R129C	protein_coding	uc003nme.3	nonsynonymous SNV	exon1	c.C385T	p.R129C	AFDRFVAICNPLRYTVIMNPQVCIL	AFDRFVAICNPLCYTVIMNPQVCIL	1.0	3.0	unscreened	-	4000_6:29342680-29342680 G>A_AFDRFVAICNPLCYTVIMNPQVCIL
1:171118750-171118750 G>A	0.0	4000	MELANOMA	-	-	-	-	FMO6P	uc001ghj.1,p.D84N|ENST00000236166,p.D227N	protein_coding, processed_transcript, nonsense_mediated_decay	uc001ghj.1	nonsynonymous SNV	exon4	c.G250A	p.D84N	RSASWVMSRVWDDGYPWDMMYVTRF	RSASWVMSRVWDNGYPWDMMYVTRF	1.0	4.0	unscreened	-	4000_1:171118750-171118750 G>A_RSASWVMSRVWDNGYPWDMMYVTRF
6:142397065-142397065 G>A	0.0	4000	MELANOMA	-	-	-	-	NMBR	NM_002511,p.P298L|uc003qiu.3,p.P298L|ENST00000258042,p.P298L	protein_coding, processed_transcript	uc003qiu.3	nonsynonymous SNV	exon3	c.C893T	p.P298L	YMYRSFNYNEIDPSLGHMIVTLVAR	YMYRSFNYNEIDLSLGHMIVTLVAR	1.0	10.0	unscreened	-	4000_6:142397065-142397065 G>A_YMYRSFNYNEIDLSLGHMIVTLVAR
10:20506391-20506391 G>A	0.0	4000	MELANOMA	-	-	-	-	PLXDC2	ENST00000377252,p.E387K|uc001iqh.1,p.E338K|ENST00000377242,p.E338K|uc001iqg.1,p.E387K|NM_032812,p.E387K|NM_001282736,p.E338K	protein_coding	uc001iqh.1	nonsynonymous SNV	exon10	c.G1012A	p.E338K	SKEKMCENTEPVETSSRTTTTVGAT	SKEKMCENTEPVKTSSRTTTTVGAT	9.0	6.0	unscreened	-	4000_10:20506391-20506391 G>A_SKEKMCENTEPVKTSSRTTTTVGAT
X:57515255-57515255 C>T	0.0	4000	MELANOMA	-	-	-	-	FAAH2	NM_174912,p.P497S|ENST00000374900,p.P497S|uc004dvc.3,p.P497S	protein_coding, processed_transcript	uc004dvc.3	nonsynonymous SNV	exon11	c.C1489T	p.P497S	TQCPLGLNAKGLPLGIQVVAGPFND	TQCPLGLNAKGLSLGIQVVAGPFND	5.0	10.0	unscreened	-	4000_X:57515255-57515255 C>T_TQCPLGLNAKGLSLGIQVVAGPFND
5:74893584-74893584 G>A	1.0	4000	MELANOMA	-	-	-	-	POLK	uc003kee.3,p.E457K|uc003ked.3,p.E367K|ENST00000504026,p.E457K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003kee.3	nonsynonymous SNV	exon11	c.G1369A	p.E457K	DLQKERLKVAQVEYRRL	DLQKERLKVAQVKYRRL	10.0	1.0	-	-	4000_5:74893584-74893584 G>A_DLQKERLKVAQVKYRRL
3:30875713-30875713 G>A	0.0	4000	MELANOMA	-	-	-	-	GADL1	uc003ceq.1,p.H322Y|ENST00000454381,p.H322Y|ENST00000282538,p.H322Y|NM_207359,p.H322Y|uc003cep.2,p.H322Y	protein_coding, processed_transcript	uc003ceq.1	nonsynonymous SNV	exon10	c.C964T	p.H322Y	MSRKHRKLLHGIHRADSVAWNPHKM	MSRKHRKLLHGIYRADSVAWNPHKM	1.0	8.0	unscreened	-	4000_3:30875713-30875713 G>A_MSRKHRKLLHGIYRADSVAWNPHKM
3:126219637-126219637 G>A	0.0	4000	MELANOMA	-	-	-	-	UROC1	uc003eiz.2,p.P349L|ENST00000383579,p.P409L|NM_001165974,p.P409L|NM_144639,p.P349L|ENST00000290868,p.P349L|uc010hsi.2,p.P409L	protein_coding	uc010hsi.2	nonsynonymous SNV	exon12	c.C1226T	p.P409L	VDLGSDQTSCHNPFNGGYYPVQLSF	VDLGSDQTSCHNLFNGGYYPVQLSF	1.0	6.0	unscreened	-	4000_3:126219637-126219637 G>A_VDLGSDQTSCHNLFNGGYYPVQLSF
17:73999336-73999336 C>T	1.0	4000	MELANOMA	-	-	-	-	CDK3	uc010dgt.3,p.R217C|NM_001258,p.R217C|ENST00000425876,p.R217C|ENST00000586261,p.R177C|ENST00000448471,p.R217C	protein_coding	uc010dgt.3	nonsynonymous SNV	exon7	c.C649T	p.R217C	GDSEIDQLFRIFRMLGTPSEDTWPG	GDSEIDQLFRIFCMLGTPSEDTWPG	4.0	6.0	-	-	4000_17:73999336-73999336 C>T_GDSEIDQLFRIFCMLGTPSEDTWPG
5:140250483-140250483 G>A	0.0	4000	MELANOMA	-	-	-	-	PCDHA11	NM_018902,p.D599N|ENST00000398640,p.D599N|uc003lia.2,p.D599N|uc011dae.2,p.D599N|NM_031861,p.D599N	protein_coding	uc011dae.2	nonsynonymous SNV	exon1	c.G1795A	p.D599N	GHVVAKVRAVDADSGYNAWLSYELQ	GHVVAKVRAVDANSGYNAWLSYELQ	1.0	1.0	unscreened	-	4000_5:140250483-140250483 G>A_GHVVAKVRAVDANSGYNAWLSYELQ
17:38243024-38243024 C>A	1.0	4000	MELANOMA	-	-	-	-	THRA	uc021twy.1,p.A214D|uc002htw.3,p.A214D|NM_001190918,p.A214D|uc002htx.3,p.A214D|NM_199334,p.A214D|ENST00000546243,p.A214D|NM_003250,p.A214D|ENST00000394121,p.A214D|uc002htv.3,p.A214D|NM_001190919,p.A214D|ENST00000264637,p.A214D|ENST00000584985,p.A214D|ENST00000450525,p.A214D|uc010cwp.1,p.A214D	retained_intron, protein_coding	uc021twy.1	nonsynonymous SNV	exon7	c.C641A	p.A214D	VSMPDGDKVDLEAFSEFTKIITPAI	VSMPDGDKVDLEDFSEFTKIITPAI	7.0	4.0	-	-	4000_17:38243024-38243024 C>A_VSMPDGDKVDLEDFSEFTKIITPAI
16:2882089-2882089 C>T	0.0	4000	MELANOMA	-	-	-	-	ZG16B	NM_145252,p.P186S|ENST00000572863,p.P156S|ENST00000382280,p.P186S|uc002cru.3,p.P186S	retained_intron, protein_coding	uc002cru.3	nonsynonymous SNV	exon4	c.C556T	p.P186S	LGIKSIGFEWNYPLEEPTTEPPVNL	LGIKSIGFEWNYSLEEPTTEPPVNL	3.0	6.0	unscreened	-	4000_16:2882089-2882089 C>T_LGIKSIGFEWNYSLEEPTTEPPVNL
15:54308083-54308083 G>A	0.0	4000	MELANOMA	-	-	-	-	UNC13C	ENST00000545554,p.V995I	retained_intron, protein_coding	ENST00000545554	nonsynonymous SNV	exon1	c.G2983A	p.V995I	QMAELEEKILAGVSLDVDLEARIVS	QMAELEEKILAGISLDVDLEARIVS	1.0	4.0	unscreened	-	4000_15:54308083-54308083 G>A_QMAELEEKILAGISLDVDLEARIVS
6:25915972-25915972 G>A	0.0	4000	MELANOMA	-	-	-	-	SLC17A2	ENST00000377850,p.S352L|ENST00000265425,p.S352L|NM_001286123,p.S352L|uc011dkb.2,p.S352L	protein_coding	uc011dkb.2	nonsynonymous SNV	exon8	c.C1055T	p.S352L	NLLRLITVRKLFSSLGLLLPSICAV	NLLRLITVRKLFLSLGLLLPSICAV	1.0	2.0	unscreened	-	4000_6:25915972-25915972 G>A_NLLRLITVRKLFLSLGLLLPSICAV
3:98072713-98072713 C>T	0.0	4000	MELANOMA	-	-	-	-	OR5K4	NM_001005517,p.H6Y|uc011bgv.2,p.H6Y|ENST00000354924,p.H6Y	protein_coding	uc011bgv.2	nonsynonymous SNV	exon1	c.C16T	p.H6Y	MARENHSLAAEFILIGFT	MARENYSLAAEFILIGFT	1.0	7.0	unscreened	-	4000_3:98072713-98072713 C>T_MARENYSLAAEFILIGFT
6:52657698-52657698 C>T	0.0	4000	MELANOMA	-	-	-	-	GSTA1	NM_145740,p.E168K|uc003paz.3,p.E168K|ENST00000334575,p.E168K|uc021zan.1,p.E168K	protein_coding, processed_transcript	uc021zan.1	nonsynonymous SNV	exon6	c.G502A	p.E168K	ADIHLVELLYYVEELDSSLISSFPL	ADIHLVELLYYVKELDSSLISSFPL	5.0	2.0	unscreened	-	4000_6:52657698-52657698 C>T_ADIHLVELLYYVKELDSSLISSFPL
5:13770933-13770933 G>A	0.0	4000	MELANOMA	-	-	-	-	DNAH5	NM_001369,p.S3177L|uc003jfd.2,p.S3177L|ENST00000265104,p.S3177L	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon56	c.C9530T	p.S3177L	QRFRRSTHVTPKSYLSFIQGYKFIY	QRFRRSTHVTPKLYLSFIQGYKFIY	2.0	7.0	unscreened	-	4000_5:13770933-13770933 G>A_QRFRRSTHVTPKLYLSFIQGYKFIY
20:2375972-2375972 C>T	0.0	4000	MELANOMA	-	-	-	-	TGM6	uc010gal.1,p.P105L|NM_001254734,p.P105L|ENST00000381423,p.P105L|NM_198994,p.P105L|uc002wfy.1,p.P105L|ENST00000202625,p.P105L	protein_coding, processed_transcript	uc010gal.1	nonsynonymous SNV	exon3	c.C314T	p.P105L	MEKTLTVSLASPPSAVIGRYLLSIR	MEKTLTVSLASPLSAVIGRYLLSIR	1.0	1.0	unscreened	-	4000_20:2375972-2375972 C>T_MEKTLTVSLASPLSAVIGRYLLSIR
14:89091380-89091380 C>T	0.0	4000	MELANOMA	-	-	-	-	EML5	uc021ryg.1,p.G1611E|NM_183387,p.G1611E|ENST00000380664,p.G1603E|uc001xxh.1,p.G742E|ENST00000554922,p.G1611E|ENST00000352093,p.G1565E|uc021ryf.1,p.G1611E|ENST00000555823,p.G52E|uc001xxf.3,p.G398E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ryg.1	nonsynonymous SNV	exon36	c.G4832A	p.G1611E	HILCRIVARAHNGPVFAMYTTLRDG	HILCRIVARAHNEPVFAMYTTLRDG	4.0	2.0	unscreened	-	4000_14:89091380-89091380 C>T_HILCRIVARAHNEPVFAMYTTLRDG
9:120476588-120476588 C>T	0.0	4000	MELANOMA	-	-	-	-	TLR4	NM_138554,p.H728Y|uc004bka.4,p.H688Y|ENST00000394487,p.H688Y|NM_003266,p.H688Y|uc004bkb.4,p.H528Y|ENST00000355622,p.H728Y|NM_138557,p.H528Y|uc004bjz.4,p.H728Y	protein_coding, processed_transcript	uc004bkb.4	nonsynonymous SNV	exon2	c.C1582T	p.H528Y	VAIAANIIHEGFHKSRKVIVVVSQH	VAIAANIIHEGFYKSRKVIVVVSQH	8.0	1.0	unscreened	-	4000_9:120476588-120476588 C>T_VAIAANIIHEGFYKSRKVIVVVSQH
7:138597144-138597144 G>A	0.0	4000	MELANOMA	-	-	-	2	KIAA1549	ENST00000440172,p.H981Y|uc011kqj.2,p.H981Y|NM_001164665,p.H981Y|ENST00000242365,p.H931Y|ENST00000422774,p.H981Y|NM_020910,p.H981Y|uc011kql.2,p.H981Y	protein_coding	uc011kql.2	nonsynonymous SNV	exon3	c.C2941T	p.H981Y	YIITAIKEVLRIHFNRAVELKVYEL	YIITAIKEVLRIYFNRAVELKVYEL	4.0	3.0	unscreened	-	4000_7:138597144-138597144 G>A_YIITAIKEVLRIYFNRAVELKVYEL
18:56601746-56601746 C>T	1.0	4000	MELANOMA	-	-	-	-	ZNF532	ENST00000589288,p.P810S|ENST00000591083,p.P810S|ENST00000591230,p.P810S|ENST00000336078,p.P810S|uc002lho.3,p.P810S|NM_018181,p.P810S|uc010xeg.2,p.P810S|uc002lhr.3,p.P808S|uc002lhs.3,p.P808S|ENST00000591808,p.P810S|uc002lhp.3,p.P808S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xeg.2	nonsynonymous SNV	exon4	c.C2428T	p.P810S	YASHQRIHQHKSPYTCPECGAICRS	YASHQRIHQHKSSYTCPECGAICRS	10.0	7.0	-	-	4000_18:56601746-56601746 C>T_YASHQRIHQHKSSYTCPECGAICRS
17:17106187-17106187 G>A	1.0	4000	MELANOMA	-	-	-	-	PLD6	NM_178836,p.P218L|uc002gqz.3,p.P218L|ENST00000321560,p.P218L	protein_coding	uc002gqz.3	nonsynonymous SNV	exon2	c.C653T	p.P218L	WEQFNPTKYTFFPPKKSHGSCAPPV	WEQFNPTKYTFFLPKKSHGSCAPPV	6.0	9.0	-	-	4000_17:17106187-17106187 G>A_WEQFNPTKYTFFLPKKSHGSCAPPV
11:14882799-14882799 C>T	0.0	4000	MELANOMA	-	-	-	-	PDE3B	NM_000922,p.R925C|ENST00000282096,p.R925C|uc010rcr.2,p.R874C|ENST00000455098,p.R874C|uc001mln.3,p.R925C	protein_coding, processed_transcript	uc010rcr.2	nonsynonymous SNV	exon14	c.C2620T	p.R874C	NSNGIEWSNENDRLLVCQVCIKLAD	NSNGIEWSNENDCLLVCQVCIKLAD	7.0	7.0	unscreened	-	4000_11:14882799-14882799 C>T_NSNGIEWSNENDCLLVCQVCIKLAD
3:193036805-193036805 G>A	0.0	4000	MELANOMA	-	-	-	-	ATP13A5	uc011bsq.2,p.L670F|NM_198505,p.L670F|ENST00000342358,p.L670F	retained_intron, protein_coding, processed_transcript	uc011bsq.2	nonsynonymous SNV	exon17	c.C2008T	p.L670F	IALAHKTLKMGNLSEVEHLAREKVE	IALAHKTLKMGNFSEVEHLAREKVE	1.0	10.0	unscreened	-	4000_3:193036805-193036805 G>A_IALAHKTLKMGNFSEVEHLAREKVE
10:63851833-63851833 C>T	1.0	4000	MELANOMA	-	-	-	-	ARID5B	NM_032199,p.P871S|ENST00000309334,p.P628S|uc001jlt.2,p.P871S|NM_001244638,p.P628S|uc001jlu.2,p.P628S|ENST00000279873,p.P871S	protein_coding	uc001jlu.2	nonsynonymous SNV	exon7	c.C1882T	p.P628S	RDMYRESENSSFPSHRHQEKLHVNY	RDMYRESENSSFSSHRHQEKLHVNY	10.0	9.0	-	-	4000_10:63851833-63851833 C>T_RDMYRESENSSFSSHRHQEKLHVNY
2:113067730-113067730 T>C	1.0	4000	MELANOMA	-	-	-	-	ZC3H6	NM_198581,p.V202A|ENST00000343936,p.V202A|uc002thq.1,p.V202A|ENST00000409871,p.V202A	retained_intron, protein_coding	uc002thq.1	nonsynonymous SNV	exon4	c.T605C	p.V202A	SKESGKKQRMKGVQQGIEQRVKSFN	SKESGKKQRMKGAQQGIEQRVKSFN	8.0	10.0	-	-	4000_2:113067730-113067730 T>C_SKESGKKQRMKGAQQGIEQRVKSFN
12:280416-280416 T>A	0.0	4000	MELANOMA	-	-	-	-	IQSEC3	NM_015232,p.L737I|uc001qhu.1,p.L737I|ENST00000382841,p.L737I	retained_intron, protein_coding, processed_transcript	uc001qhu.1	nonsynonymous SNV	exon13	c.T2209A	p.L737I	LRERPAESTVEVLINASPARLTILP	LRERPAESTVEVIINASPARLTILP	3.0	9.0	unscreened	-	4000_12:280416-280416 T>A_LRERPAESTVEVIINASPARLTILP
11:48238941-48238941 G>A	0.0	4000	MELANOMA	-	-	-	-	OR4B1	ENST00000309562,p.G194R|uc010rhs.2,p.G194R|NM_001005470,p.G194R	protein_coding	uc010rhs.2	nonsynonymous SNV	exon1	c.G580A	p.G194R	LFKLACTDTFMEGVIVLANSGLFSV	LFKLACTDTFMERVIVLANSGLFSV	1.0	9.0	unscreened	-	4000_11:48238941-48238941 G>A_LFKLACTDTFMERVIVLANSGLFSV
2:155555784-155555784 C>T	0.0	4000	MELANOMA	-	-	-	-	KCNJ3	uc010zce.2,p.S166F|NM_001260508,p.S166F|NM_001260510,p.S166F|uc002tyv.2,p.S166F|NM_001260509,p.S166F|NM_002239,p.S166F|ENST00000544049,p.S166F|uc021vrh.1,p.S166F|uc031rpq.1,p.S166F|ENST00000295101,p.S166F	protein_coding, processed_transcript	uc031rpq.1	nonsynonymous SNV	exon1	c.C497T	p.S166F	KCPEGIILFLFQSILGSIVDAFLIG	KCPEGIILFLFQFILGSIVDAFLIG	1.0	2.0	unscreened	-	4000_2:155555784-155555784 C>T_KCPEGIILFLFQFILGSIVDAFLIG
4:141543786-141543786 C>T	1.0	4000	MELANOMA	-	-	-	-	TBC1D9	NM_015130,p.E1122K|uc010ioj.3,p.E1122K|ENST00000442267,p.E1122K	retained_intron, protein_coding	uc010ioj.3	nonsynonymous SNV	exon21	c.G3364A	p.E1122K	VEPLPASLAPDSEEHSLGGQMEDIK	VEPLPASLAPDSKEHSLGGQMEDIK	8.0	3.0	-	-	4000_4:141543786-141543786 C>T_VEPLPASLAPDSKEHSLGGQMEDIK
6:56035641-56035641 G>A	0.0	4000	MELANOMA	-	-	-	-	COL21A1	NM_030820,p.P278S|uc003pcs.3,p.P278S|uc011dxi.1,p.P278S|ENST00000535941,p.P278S|ENST00000370819,p.P278S|uc003pcu.1,p.P278S|ENST00000244728,p.P278S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxi.1	nonsynonymous SNV	exon6	c.C832T	p.P278S	SELTSNVFPEGLPPSYVFVSTQRFK	SELTSNVFPEGLSPSYVFVSTQRFK	4.0	2.0	unscreened	-	4000_6:56035641-56035641 G>A_SELTSNVFPEGLSPSYVFVSTQRFK
22:38150888-38150888 C>T	1.0	4000	MELANOMA	-	-	-	-	TRIOBP	ENST00000413051,p.P84S	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000413051	nonsynonymous SNV	exon4	c.C250T	p.P84S	DGCRSWTSLESLPPPRSPPPLLRSG	DGCRSWTSLESLSPPRSPPPLLRSG	9.0	8.0	unscreened	-	4000_22:38150888-38150888 C>T_DGCRSWTSLESLSPPRSPPPLLRSG
3:193051622-193051622 C>T	0.0	4000	MELANOMA	-	-	ID=COSM1042617;OCCURENCE=1(endometrium)	-	ATP13A5	uc011bsq.2,p.D397N|NM_198505,p.D397N|ENST00000342358,p.D397N	retained_intron, protein_coding, processed_transcript	uc011bsq.2	nonsynonymous SNV	exon11	c.G1189A	p.D397N	LYPRPLNFKLYSDAFKFIVFLACLG	LYPRPLNFKLYSNAFKFIVFLACLG	1.0	8.0	unscreened	-	4000_3:193051622-193051622 C>T_LYPRPLNFKLYSNAFKFIVFLACLG
8:135613953-135613953 G>A	0.0	4000	MELANOMA	-	-	-	-	ZFAT	NM_001174158,p.P658L|uc010mej.3,p.P608L|uc003yuq.3,p.P658L|uc003yuo.3,p.P658L|NM_001167583,p.P658L|ENST00000520356,p.P658L|NM_020863,p.P670L|ENST00000520727,p.P658L|ENST00000429442,p.P658L|uc003yup.3,p.P670L|NM_001029939,p.P658L|NM_001174157,p.P608L|ENST00000520214,p.P658L|ENST00000377838,p.P670L|NM_001289394,p.P658L|uc010meh.3,p.P658L|ENST00000523243,p.P670L|ENST00000523399,p.P608L|uc003yur.3,p.P658L|uc003yun.3,p.P658L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010mej.3	nonsynonymous SNV	exon5	c.C1823T	p.P608L	QNMAVLSAGDPDPSRCLRSNPAEAS	QNMAVLSAGDPDLSRCLRSNPAEAS	7.0	2.0	unscreened	-	4000_8:135613953-135613953 G>A_QNMAVLSAGDPDLSRCLRSNPAEAS
7:93516149-93516149 G>A	0.0	4000	MELANOMA	-	-	ID=COSM1698916;OCCURENCE=1(skin)	-	TFPI2	uc003una.2,p.R220W|NM_001271003,p.R220W|NM_006528,p.R231W|ENST00000545378,p.R120W|uc003umy.2,p.R231W|ENST00000222543,p.R231W	retained_intron, protein_coding	uc003una.2	nonsynonymous SNV	exon5	c.C658T	p.R220W	PKLRFASRIRKIRKKQF	PKLRFASRIRKIWKKQF	4.0	3.0	unscreened	-	4000_7:93516149-93516149 G>A_PKLRFASRIRKIWKKQF
7:141727431-141727431 C>T	0.0	4000	MELANOMA	-	-	-	-	MGAM	uc003vwy.3,p.P373S|ENST00000549489,p.P373S|ENST00000475668,p.P373S|NM_004668,p.P373S	retained_intron, protein_coding, processed_transcript	uc003vwy.3	nonsynonymous SNV	exon10	c.C1117T	p.P373S	QEYLELIGRPALPSYWALGFHLSRY	QEYLELIGRPALSSYWALGFHLSRY	2.0	3.0	unscreened	-	4000_7:141727431-141727431 C>T_QEYLELIGRPALSSYWALGFHLSRY
11:56468354-56468354 C>T	0.0	4000	MELANOMA	-	-	-	-	OR9G1,OR9G9	NM_001005213,p.S164F|ENST00000312153,p.S164F	protein_coding	NM_001005213	nonsynonymous SNV	exon1	c.C491T	p.S164F	FINSSIITKKTFSFNFCRENIIDDF	FINSSIITKKTFFFNFCRENIIDDF	1.0	1.0	unscreened	-	4000_11:56468354-56468354 C>T_FINSSIITKKTFFFNFCRENIIDDF
8:139163525-139163525 G>A	0.0	4000	MELANOMA	-	-	-	2	FAM135B	uc003yuy.3,p.P1065S|ENST00000395297,p.P1065S|uc003yvb.3,p.P627S|ENST00000276737,p.P1065S|uc003yux.3,p.P966S|ENST00000467365,p.P375S|NM_015912,p.P1065S|uc003yva.3,p.P627S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yvb.3	nonsynonymous SNV	exon1	c.C1879T	p.P627S	ARAGFSSKQTLFPITHQPLGSFGVV	ARAGFSSKQTLFSITHQPLGSFGVV	1.0	2.0	unscreened	-	4000_8:139163525-139163525 G>A_ARAGFSSKQTLFSITHQPLGSFGVV
19:51563320-51563320 G>A	0.0	4000	MELANOMA	-	-	-	-	KLK13	ENST00000376799,p.P92S|ENST00000601975,p.P92S	protein_coding, nonsense_mediated_decay	ENST00000601975	nonsynonymous SNV	exon3	c.C274T	p.P92S	KGGAQSLPRQARPRACGSW	KGGAQSLPRQARSRACGSW	4.0	6.0	unscreened	-	4000_19:51563320-51563320 G>A_KGGAQSLPRQARSRACGSW
1:34166155-34166155 G>A	0.0	4000	MELANOMA	-	-	-	-	CSMD2	ENST00000373380,p.A105V|ENST00000241312,p.A1192V|uc001bxn.1,p.A1192V|uc001bxo.1,p.A105V|uc001bxm.1,p.A1232V|NM_052896,p.A1192V|ENST00000373381,p.A1232V|NM_001281956,p.A1232V	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxo.1	nonsynonymous SNV	exon2	c.C314T	p.A105V	TSSSLWLDFITDAENTSKGFELHFS	TSSSLWLDFITDVENTSKGFELHFS	2.0	5.0	unscreened	-	4000_1:34166155-34166155 G>A_TSSSLWLDFITDVENTSKGFELHFS
2:155303218-155303218 G>A	0.0	4000	MELANOMA	-	-	-	-	GALNT13	uc002tyt.4,p.E547K|ENST00000453715,p.E92K|ENST00000409237,p.E547K|NM_001301627,p.E547K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tyt.4	nonsynonymous SNV	exon11	c.G1639A	p.E547K	LQKWLLRNYTRMEIFRNIFGNSTDY	LQKWLLRNYTRMKIFRNIFGNSTDY	1.0	8.0	unscreened	-	4000_2:155303218-155303218 G>A_LQKWLLRNYTRMKIFRNIFGNSTDY
6:165827113-165827113 C>T	1.0	4000	MELANOMA	-	-	-	-	PDE10A	uc003qun.3,p.R375Q|NM_001130690,p.R385Q|uc003quo.3,p.R385Q|uc011egk.2,p.R305Q|ENST00000354448,p.R375Q|ENST00000539869,p.R385Q|ENST00000366882,p.R375Q	protein_coding	uc011egk.2	nonsynonymous SNV	exon14	c.G914A	p.R305Q	TTRNILCMPIVSRGSVIGVVQMVNK	TTRNILCMPIVSQGSVIGVVQMVNK	6.0	4.0	-	-	4000_6:165827113-165827113 C>T_TTRNILCMPIVSQGSVIGVVQMVNK
5:13865972-13865972 C>T	0.0	4000	MELANOMA	-	-	-	-	DNAH5	NM_001369,p.G1387E|uc003jfd.2,p.G1387E|ENST00000265104,p.G1387E	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon27	c.G4160A	p.G1387E	FDNIYRKYITYTGGEELFGLPATQY	FDNIYRKYITYTEGEELFGLPATQY	2.0	10.0	unscreened	-	4000_5:13865972-13865972 C>T_FDNIYRKYITYTEGEELFGLPATQY
11:56468354-56468354 C>T	0.0	4000	MELANOMA	-	-	-	-	OR9G1,OR9G9	NM_001013358,p.S164F|uc010rjn.2,p.S164F	protein_coding	uc010rjn.2	nonsynonymous SNV	exon1	c.C491T	p.S164F	FINSSIITKKTFSFNFCCENIIDDF	FINSSIITKKTFFFNFCCENIIDDF	1.0	1.0	unscreened	-	4000_11:56468354-56468354 C>T_FINSSIITKKTFFFNFCCENIIDDF
12:117685308-117685308 C>T	0.0	4000	MELANOMA	-	-	-	-	NOS1	uc021ren.1,p.G554S|NM_001204218,p.G924S|NM_001204213,p.G554S|ENST00000338101,p.G924S|uc001twn.2,p.G924S|NM_001204214,p.G554S|uc021reo.1,p.G554S|NM_000620,p.G890S|ENST00000317775,p.G890S|uc001twm.2,p.G890S	protein_coding, processed_transcript	uc021reo.1	nonsynonymous SNV	exon17	c.G1660A	p.G554S	PLANVRFSVFGLGSRAYPHFCAFGH	PLANVRFSVFGLSSRAYPHFCAFGH	1.0	9.0	unscreened	-	4000_12:117685308-117685308 C>T_PLANVRFSVFGLSSRAYPHFCAFGH
X:107938566-107938566 C>T	0.0	4000	MELANOMA	-	-	-	-	COL4A5	uc022ccg.2,p.R1631C|NM_000495,p.R1625C|ENST00000361603,p.R1625C|ENST00000328300,p.R1631C	retained_intron, protein_coding, processed_transcript	uc022ccg.2	nonsynonymous SNV	exon52	c.C4891T	p.R1631C	ALASPGSCLEEFRSAPFIECHGRGT	ALASPGSCLEEFCSAPFIECHGRGT	5.0	9.0	unscreened	-	4000_X:107938566-107938566 C>T_ALASPGSCLEEFCSAPFIECHGRGT
4:55955084-55955084 G>A	0.0	4000	MELANOMA	-	-	-	1	KDR	uc003has.3,p.S1154L|NM_002253,p.S1154L|ENST00000263923,p.S1154L|uc003hat.1,p.S1154L	retained_intron, protein_coding	uc003hat.1	nonsynonymous SNV	exon26	c.C3461T	p.S1154L	CWHGEPSQRPTFSELVEHLGNLLQA	CWHGEPSQRPTFLELVEHLGNLLQA	5.0	4.0	unscreened	-	4000_4:55955084-55955084 G>A_CWHGEPSQRPTFLELVEHLGNLLQA
1:151491225-151491225 C>T	1.0	4000	MELANOMA	-	-	-	-	CGN	ENST00000427934,p.S77F|NM_020770,p.S77F|ENST00000502442,p.S77F|ENST00000505188,p.S77F|ENST00000271636,p.S77F|uc009wmw.3,p.S77F	retained_intron, protein_coding	uc009wmw.3	nonsynonymous SNV	exon2	c.C230T	p.S77F	FVVLNSGEKGGDSFGVQIKGANDQG	FVVLNSGEKGGDFFGVQIKGANDQG	6.0	7.0	-	-	4000_1:151491225-151491225 C>T_FVVLNSGEKGGDFFGVQIKGANDQG
7:141721530-141721530 C>T	0.0	4000	MELANOMA	-	-	-	-	MGAM	ENST00000549489,p.R235C|ENST00000475668,p.R235C|uc003vwy.3,p.R235C|NM_004668,p.R235C	retained_intron, protein_coding, processed_transcript	uc003vwy.3	nonsynonymous SNV	exon6	c.C703T	p.R235C	PFSIKVTRRSNNRVLFDSSIGPLLF	PFSIKVTRRSNNCVLFDSSIGPLLF	2.0	1.0	unscreened	-	4000_7:141721530-141721530 C>T_PFSIKVTRRSNNCVLFDSSIGPLLF
1:204913525-204913525 C>T	0.0	4000	MELANOMA	-	-	-	-	NFASC	ENST00000367171,p.P28S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000367171	nonsynonymous SNV	exon3	c.C82T	p.P28S	LCLLSLGGAIEIPMDLSIETTVTQP	LCLLSLGGAIEISMDLSIETTVTQP	4.0	10.0	unscreened	-	4000_1:204913525-204913525 C>T_LCLLSLGGAIEISMDLSIETTVTQP
8:2806856-2806856 C>T	1.0	4000	MELANOMA	-	-	-	-	CSMD1	NM_033225,p.G3456E|ENST00000602557,p.G3457E|uc011kwj.2,p.G2771E|ENST00000542608,p.G3279E|uc022aqr.1,p.G3456E|ENST00000537824,p.G3456E|ENST00000520002,p.G3457E|ENST00000400186,p.G3280E|uc010lrg.3,p.G1348E|ENST00000602723,p.G3280E	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon68	c.G10367A	p.G3456E	ERGGFTFQGDIHGKDFGKFKLERQD	ERGGFTFQGDIHEKDFGKFKLERQD	4.0	10.0	-	-	4000_8:2806856-2806856 C>T_ERGGFTFQGDIHEKDFGKFKLERQD
19:54973880-54973880 G>A	1.0	4000	MELANOMA	-	-	-	-	LENG9	uc010yez.2,p.P299L|NM_198988,p.P299L|ENST00000333834,p.P299L	protein_coding	uc010yez.2	nonsynonymous SNV	exon1	c.C896T	p.P299L	GGSAETTEAEWGPAAWPEDKRARLS	GGSAETTEAEWGLAAWPEDKRARLS	4.0	5.0	-	-	4000_19:54973880-54973880 G>A_GGSAETTEAEWGLAAWPEDKRARLS
8:52396227-52396227 G>A	0.0	4000	MELANOMA	-	-	-	-	PXDNL	ENST00000543296,p.S167F|uc003xqu.4,p.S167F|ENST00000356297,p.S167F|NM_144651,p.S167F	retained_intron, protein_coding, nonsense_mediated_decay	uc003xqu.4	nonsynonymous SNV	exon6	c.C500T	p.S167F	NNKLSKIPAGSFSNLDSLKRLRLDS	NNKLSKIPAGSFFNLDSLKRLRLDS	3.0	10.0	unscreened	-	4000_8:52396227-52396227 G>A_NNKLSKIPAGSFFNLDSLKRLRLDS
11:76261017-76261017 C>T	1.0	4000	MELANOMA	-	-	-	-	C11orf30	uc001oxp.3,p.P199S|ENST00000532719,p.P239S|ENST00000343878,p.P1099S	retained_intron, protein_coding, processed_transcript	uc001oxp.3	nonsynonymous SNV	exon3	c.C595T	p.P199S	QTASQAIPQYAIPCHSSSNVVVEPS	QTASQAIPQYAISCHSSSNVVVEPS	8.0	10.0	unscreened	-	4000_11:76261017-76261017 C>T_QTASQAIPQYAISCHSSSNVVVEPS
4:25030177-25030177 G>A	0.0	4000	MELANOMA	-	-	-	-	LGI2	NM_018176,p.S74L|uc003grf.2,p.S74L|ENST00000382114,p.S74L	protein_coding	uc003grf.2	nonsynonymous SNV	exon2	c.C221T	p.S74L	DISSLSLVNGTFSEIKDRMFSHLPS	DISSLSLVNGTFLEIKDRMFSHLPS	4.0	8.0	unscreened	-	4000_4:25030177-25030177 G>A_DISSLSLVNGTFLEIKDRMFSHLPS
8:95502281-95502281 C>T	1.0	4000	MELANOMA	-	-	-	-	KIAA1429	ENST00000517624,p.R46K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000517624	nonsynonymous SNV	exon2	c.G137A	p.R46K	TSRKLQSSGRNKRLQLECSEYSSRK	TSRKLQSSGRNKKLQLECSEYSSRK	9.0	10.0	-	-	4000_8:95502281-95502281 C>T_TSRKLQSSGRNKKLQLECSEYSSRK
10:73044542-73044542 G>A	0.0	4000	MELANOMA	-	-	-	-	UNC5B	NM_170744,p.E124K|NM_001244889,p.E124K|ENST00000373192,p.E124K|ENST00000335350,p.E124K|uc001jrp.3,p.E124K|uc001jro.3,p.E124K	protein_coding	uc001jrp.3	nonsynonymous SNV	exon3	c.G370A	p.E124K	VSRQQVEELFGLEDYWCQCVAWSSA	VSRQQVEELFGLKDYWCQCVAWSSA	5.0	1.0	unscreened	-	4000_10:73044542-73044542 G>A_VSRQQVEELFGLKDYWCQCVAWSSA
19:36277747-36277747 C>T	0.0	4000	MELANOMA	-	-	-	-	ARHGAP33	uc002obv.1,p.A380V|uc002obr.2,p.A792V|NM_001172630,p.A656V|ENST00000378944,p.A656V|uc002obt.2,p.A656V|ENST00000007510,p.A792V	retained_intron, protein_coding, processed_transcript	uc002obv.1	nonsynonymous SNV	exon7	c.C1139T	p.A380V	SPRGPTSPASPAALDISEPLAVSVP	SPRGPTSPASPAVLDISEPLAVSVP	5.0	1.0	unscreened	-	4000_19:36277747-36277747 C>T_SPRGPTSPASPAVLDISEPLAVSVP
1:82408790-82408790 C>T	0.0	4000	MELANOMA	-	-	ID=COSM261808,COSM261807;OCCURENCE=3(haematopoietic_and_lymphoid_tissue),2(large_intestine)	-	LPHN2	NM_001297705,p.R179C|ENST00000370717,p.R179C|ENST00000370723,p.R179C|ENST00000370715,p.R179C|NM_012302,p.R179C|ENST00000370721,p.R183C|ENST00000370713,p.R179C|uc001div.3,p.R179C|ENST00000319517,p.R179C|ENST00000394879,p.R179C|ENST00000370727,p.R179C|ENST00000359929,p.R179C|NM_001297704,p.R179C|uc001diu.3,p.R179C|ENST00000335786,p.R179C|NM_001297706,p.R179C|ENST00000370725,p.R179C|uc001dit.4,p.R179C|ENST00000271029,p.R179C|ENST00000370730,p.R179C|uc009wcd.3,p.R179C|ENST00000370728,p.R179C	protein_coding, processed_transcript	uc009wcd.3	nonsynonymous SNV	exon5	c.C535T	p.R179C	ADKIYFMPWTPYRTDTLIEYASLED	ADKIYFMPWTPYCTDTLIEYASLED	6.0	6.0	unscreened	-	4000_1:82408790-82408790 C>T_ADKIYFMPWTPYCTDTLIEYASLED
5:135587547-135587547 C>T	0.0	4000	MELANOMA	-	-	-	-	TRPC7	uc010jei.2,p.E341K|NM_020389,p.E457K|ENST00000426057,p.E341K|NM_001167576,p.E341K|uc010jeh.2,p.E396K|uc010jef.2,p.E393K|NM_001167577,p.E396K|ENST00000513104,p.E457K|uc003lbn.2,p.E457K|ENST00000355180,p.E396K	retained_intron, protein_coding, nonsense_mediated_decay	uc010jei.2	nonsynonymous SNV	exon4	c.G1021A	p.E341K	KWVLGMIWSECKEIWEEGPREYVLH	KWVLGMIWSECKKIWEEGPREYVLH	1.0	1.0	unscreened	-	4000_5:135587547-135587547 C>T_KWVLGMIWSECKKIWEEGPREYVLH
5:140572652-140572652 C>T	0.0	4000	MELANOMA	-	-	-	-	PCDHB10	NM_018930,p.S176F|uc003lix.3,p.S176F|ENST00000239446,p.S176F	protein_coding	uc003lix.3	nonsynonymous SNV	exon1	c.C527T	p.S176F	LNGIQNYTISPNSFFHINISGGDEG	LNGIQNYTISPNFFFHINISGGDEG	4.0	1.0	unscreened	-	4000_5:140572652-140572652 C>T_LNGIQNYTISPNFFFHINISGGDEG
5:5146342-5146342 C>T	0.0	4000	MELANOMA	-	-	-	-	ADAMTS16	uc003jdl.3,p.S92F|ENST00000511368,p.S92F|NM_139056,p.S92F|uc003jdk.1,p.S92F|uc003jdj.1,p.S92F|ENST00000274181,p.S92F	retained_intron, protein_coding, processed_transcript	uc003jdl.3	nonsynonymous SNV	exon3	c.C275T	p.S92F	MHHQRRRRAVPVSEVESLHLRLKGS	MHHQRRRRAVPVFEVESLHLRLKGS	2.0	8.0	unscreened	-	4000_5:5146342-5146342 C>T_MHHQRRRRAVPVFEVESLHLRLKGS
9:24544265-24544265 G>A	0.0	4000	MELANOMA	-	-	-	-	IZUMO3	ENST00000604921,p.P136S|uc031tdg.1,p.P136S|ENST00000418122,p.P55S|NM_001271706,p.P136S	protein_coding	uc031tdg.1	nonsynonymous SNV	exon4	c.C406T	p.P136S	LKNFSEIVVVEGPILDCWTCLRMTN	LKNFSEIVVVEGSILDCWTCLRMTN	1.0	10.0	unscreened	-	4000_9:24544265-24544265 G>A_LKNFSEIVVVEGSILDCWTCLRMTN
12:51868892-51868892 C>T	0.0	4000	MELANOMA	-	-	-	-	SLC4A8	NM_001258403,p.P639S|uc001rym.4,p.P639S|NM_001258401,p.P639S|NM_001039960,p.P692S|ENST00000358657,p.P719S|uc001ryn.4,p.P639S|ENST00000453097,p.P692S|uc010snk.2,p.P639S|uc001ryr.3,p.P692S|ENST00000514353,p.P639S|uc001ryv.4,p.P639S|uc010snj.2,p.P719S|ENST00000394856,p.P639S|uc001rys.2,p.P692S	retained_intron, protein_coding, processed_transcript	uc010snk.2	nonsynonymous SNV	exon16	c.C1915T	p.P639S	MGSACGHHGPYTPDVLFWSCILFFT	MGSACGHHGPYTSDVLFWSCILFFT	5.0	5.0	unscreened	-	4000_12:51868892-51868892 C>T_MGSACGHHGPYTSDVLFWSCILFFT
9:38595823-38595823 C>T	0.0	4000	MELANOMA	-	-	-	-	ANKRD18A	uc004abf.1,p.G182E|uc004abg.4,p.G505E|ENST00000399703,p.G505E|uc010mme.3,p.G504E|NM_147195,p.G505E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010mme.3	nonsynonymous SNV	exon9	c.G1511A	p.G504E	TRDALREKTLALGSVQLDLRQAQHR	TRDALREKTLALESVQLDLRQAQHR	1.0	8.0	unscreened	-	4000_9:38595823-38595823 C>T_TRDALREKTLALESVQLDLRQAQHR
2:179396241-179396241 C>T	0.0	4000	MELANOMA	-	-	ID=COSM572117,COSM572115,COSM1141959,COSM572116,COSM572118;OCCURENCE=1(lung)	-	TTN	uc021vsz.2,p.G26161E|NM_001256850,p.G33393E|ENST00000342992,p.G32466E|uc031rqc.1,p.G35034E|ENST00000342175,p.G26161E|NM_003319,p.G25969E|NM_133437,p.G26161E|uc021vtb.2,p.G25969E|uc021vsy.2,p.G32466E|NM_133432,p.G26094E|uc031rqd.1,p.G33393E|ENST00000359218,p.G26094E|uc021vta.2,p.G26094E|ENST00000460472,p.G25969E|NM_001267550,p.G35034E|NM_133378,p.G32466E	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon308	c.G100178A	p.G33393E	EASDYATLDVTGGDYTTYASQRRDE	EASDYATLDVTGEDYTTYASQRRDE	6.0	6.0	unscreened	-	4000_2:179396241-179396241 C>T_EASDYATLDVTGEDYTTYASQRRDE
8:3063032-3063032 C>T	0.0	4000	MELANOMA	-	-	-	-	CSMD1	uc022aqr.1,p.E1660K|NM_033225,p.E1660K|ENST00000539096,p.E1660K|uc011kwj.2,p.E1053K|ENST00000542608,p.E1660K|ENST00000602723,p.E1661K|ENST00000400186,p.E1661K|ENST00000520002,p.E1661K|ENST00000537824,p.E1660K|ENST00000602557,p.E1661K|uc003wqe.3,p.E817K	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon31	c.G4978A	p.E1660K	GQICLYSITVPKEFVVFGQFAYFQT	GQICLYSITVPKKFVVFGQFAYFQT	4.0	10.0	unscreened	-	4000_8:3063032-3063032 C>T_GQICLYSITVPKKFVVFGQFAYFQT
6:44122517-44122517 C>T	1.0	4000	MELANOMA	-	-	-	-	TMEM63B	uc003ows.3,p.S702F|uc003owr.3,p.S799F|NM_018426,p.S799F|ENST00000259746,p.S799F|ENST00000323267,p.S799F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ows.3	nonsynonymous SNV	exon21	c.C2105T	p.S702F	GAPGSSGDEPPSSSSQDEELLMPPD	GAPGSSGDEPPSFSSQDEELLMPPD	9.0	4.0	-	-	4000_6:44122517-44122517 C>T_GAPGSSGDEPPSFSSQDEELLMPPD
2:45664-45664 G>A	0.0	4000	MELANOMA	-	-	-	-	FAM110C	uc010yim.2,p.S241L|ENST00000327669,p.S241L|NM_001077710,p.S241L	protein_coding, processed_transcript	uc010yim.2	nonsynonymous SNV	exon1	c.C722T	p.S241L	VEALGRENFTAGSDCVTLKVRSVSV	VEALGRENFTAGLDCVTLKVRSVSV	3.0	1.0	unscreened	-	4000_2:45664-45664 G>A_VEALGRENFTAGLDCVTLKVRSVSV
4:2829381-2829381 C>T	1.0	4000	MELANOMA	-	-	-	-	SH3BP2	ENST00000442312,p.P217L|NM_001145856,p.P246L|NM_001145855,p.P217L|uc003gfl.4,p.P122L|NM_001122681,p.P189L|NM_003023,p.P189L|ENST00000503393,p.P246L|ENST00000356331,p.P189L|uc003gfk.4,p.P189L|uc003gfj.4,p.P246L|ENST00000435136,p.P189L|uc003gfm.4,p.P164L|uc011bvp.2,p.P217L|ENST00000452765,p.P189L|ENST00000511747,p.P189L|uc003gfi.4,p.P189L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bvp.2	nonsynonymous SNV	exon7	c.C650T	p.P217L	DDEDDSYLEPDSPEPGRLEDALMHP	DDEDDSYLEPDSLEPGRLEDALMHP	9.0	9.0	-	-	4000_4:2829381-2829381 C>T_DDEDDSYLEPDSLEPGRLEDALMHP
15:48903008-48903008 G>A	0.0	4000	MELANOMA	-	-	-	-	FBN1	uc001zwx.2,p.S88F|NM_000138,p.S88F|ENST00000316623,p.S88F|ENST00000537463,p.S88F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zwx.2	nonsynonymous SNV	exon4	c.C263T	p.S88F	GGNQCIVPICRHSCGDGFCSRPNMC	GGNQCIVPICRHFCGDGFCSRPNMC	7.0	8.0	unscreened	-	4000_15:48903008-48903008 G>A_GGNQCIVPICRHFCGDGFCSRPNMC
3:48719117-48719117 G>A	1.0	4000	MELANOMA	-	-	-	2	NCKIPSD	ENST00000453349,p.P154L|NM_016453,p.P232L|ENST00000426678,p.P116L|NM_184231,p.P225L|ENST00000294129,p.P232L|ENST00000439518,p.P232L|uc010hkh.2,p.P232L|uc003cun.3,p.P232L|ENST00000341520,p.P232L|ENST00000416649,p.P225L|uc003cum.3,p.P225L	retained_intron, protein_coding, nonsense_mediated_decay	uc010hkh.2	nonsynonymous SNV	exon5	c.C695T	p.P232L	STSLDTLYTSSSPSEPGSSCSPTPP	STSLDTLYTSSSLSEPGSSCSPTPP	7.0	2.0	-	-	4000_3:48719117-48719117 G>A_STSLDTLYTSSSLSEPGSSCSPTPP
2:237240097-237240097 G>A	0.0	4000	MELANOMA	-	-	-	-	IQCA1	ENST00000431676,p.R719W|uc010zni.2,p.R719W|ENST00000409907,p.R760W|NM_024726,p.R760W|uc002vvz.2,p.R760W|ENST00000309507,p.R757W|NM_001270585,p.R768W|uc002vwb.3,p.R768W|NM_001270584,p.R719W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zni.2	nonsynonymous SNV	exon17	c.C2155T	p.R719W	EVVKGVLTDQRIRRQIHKPLTAVEF	EVVKGVLTDQRIWRQIHKPLTAVEF	2.0	8.0	unscreened	-	4000_2:237240097-237240097 G>A_EVVKGVLTDQRIWRQIHKPLTAVEF
7:100028606-100028606 T>C	1.0	4000	MELANOMA	-	-	-	-	MEPCE	NM_019606,p.I322T|ENST00000310512,p.I322T|uc003uuw.3,p.I322T	retained_intron, protein_coding, processed_transcript	uc003uuw.3	nonsynonymous SNV	exon1	c.T965C	p.I322T	RDAPQPYELNTAINCRDEVVSPLPS	RDAPQPYELNTATNCRDEVVSPLPS	8.0	4.0	-	-	4000_7:100028606-100028606 T>C_RDAPQPYELNTATNCRDEVVSPLPS
14:91700725-91700725 C>T	0.0	4000	MELANOMA	-	-	-	-	GPR68	ENST00000531499,p.D224N|NM_003485,p.D224N|ENST00000529102,p.D224N|uc001xzg.3,p.D224N|uc001xzh.3,p.D224N|ENST00000535815,p.D224N|ENST00000238699,p.D234N|NM_001177676,p.D224N|uc021ryk.1,p.D224N	protein_coding, processed_transcript	uc021ryk.1	nonsynonymous SNV	exon1	c.G670A	p.D224N	VRRSHGTQKSRKDQIQRLVLSTVVI	VRRSHGTQKSRKNQIQRLVLSTVVI	5.0	8.0	unscreened	-	4000_14:91700725-91700725 C>T_VRRSHGTQKSRKNQIQRLVLSTVVI
1:159275828-159275828 C>T	0.0	4000	MELANOMA	-	-	-	-	FCER1A	ENST00000368114,p.L95F|NM_002001,p.L128F|uc001ftq.3,p.L128F|ENST00000368115,p.L128F	protein_coding	uc001ftq.3	nonsynonymous SNV	exon5	c.C382T	p.L128F	QASAEVVMEGQPLFLRCHGWRNWDV	QASAEVVMEGQPFFLRCHGWRNWDV	1.0	8.0	unscreened	-	4000_1:159275828-159275828 C>T_QASAEVVMEGQPFFLRCHGWRNWDV
11:76261017-76261017 C>T	1.0	4000	MELANOMA	-	-	-	-	C11orf30	ENST00000525919,p.P1267S|uc010rsd.2,p.P1175S|uc010rsc.2,p.P1267S|uc001oxm.3,p.P1168S|uc010rse.2,p.P513S|NM_001300942,p.P1281S|ENST00000524490,p.P1168S|NM_001300944,p.P1267S|ENST00000334736,p.P1266S|NM_001300943,p.P1267S|uc001oxn.3,p.P1267S|uc001oxl.3,p.P1266S|ENST00000529032,p.P1266S|ENST00000524767,p.P1281S|NM_020193,p.P1266S|ENST00000525038,p.P1267S|uc010rsb.2,p.P1281S|ENST00000533248,p.P1175S	retained_intron, protein_coding, processed_transcript	uc010rse.2	nonsynonymous SNV	exon6	c.C1537T	p.P513S	EIIIQAIPQYAIPCHSSSNVVVEPS	EIIIQAIPQYAISCHSSSNVVVEPS	8.0	10.0	unscreened	-	4000_11:76261017-76261017 C>T_EIIIQAIPQYAISCHSSSNVVVEPS
17:79804405-79804405 G>A	1.0	4000	MELANOMA	-	-	-	-	P4HB	uc002kbn.1,p.T319I|ENST00000439918,p.T275I|NM_000918,p.T319I|ENST00000331483,p.T319I|ENST00000576380,p.T168I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kbn.1	nonsynonymous SNV	exon7	c.C956T	p.T319I	LKKEECPAVRLITLEEEMTKYKPES	LKKEECPAVRLIILEEEMTKYKPES	10.0	5.0	-	-	4000_17:79804405-79804405 G>A_LKKEECPAVRLIILEEEMTKYKPES
2:50779755-50779755 G>A	0.0	4000	MELANOMA	-	-	ID=COSM419150,COSM419149,COSM1133630;OCCURENCE=1(urinary_tract)	-	NRXN1	NM_004801,p.H577Y|uc002rxb.4,p.H249Y|ENST00000405472,p.H569Y|NM_001135659,p.H617Y|ENST00000401669,p.H577Y|ENST00000406316,p.H577Y|ENST00000406859,p.H577Y|uc021vhh.1,p.H577Y|ENST00000404971,p.H617Y|ENST00000402717,p.H569Y|uc021vhg.1,p.H617Y	retained_intron, protein_coding, processed_transcript	uc021vhh.1	nonsynonymous SNV	exon8	c.C1729T	p.H577Y	ALLKKVNDGEWYHVDFQRDGRSGTI	ALLKKVNDGEWYYVDFQRDGRSGTI	1.0	9.0	unscreened	-	4000_2:50779755-50779755 G>A_ALLKKVNDGEWYYVDFQRDGRSGTI
4:126370696-126370696 G>A	0.0	4000	MELANOMA	-	-	-	1	FAT4	ENST00000394329,p.R2842K|NM_001291303,p.R2844K|uc003ifj.4,p.R2842K|ENST00000335110,p.R1140K|NM_024582,p.R2842K|NM_001291285,p.R2844K|uc003ifi.1,p.R320K|uc011cgp.2,p.R1140K	retained_intron, protein_coding	uc011cgp.2	nonsynonymous SNV	exon9	c.G3419A	p.R1140K	SRPLNREDTDRYRIRVSAHDSGWTV	SRPLNREDTDRYKIRVSAHDSGWTV	5.0	1.0	unscreened	-	4000_4:126370696-126370696 G>A_SRPLNREDTDRYKIRVSAHDSGWTV
X:36156083-36156083 C>T	0.0	4000	MELANOMA	-	-	-	-	CHDC2	uc004ddk.1,p.P352S|ENST00000313548,p.P352S|NM_173695,p.P352S|ENST00000378660,p.P352S	protein_coding	uc004ddk.1	nonsynonymous SNV	exon9	c.C1054T	p.P352S	HVIWKNCHKDVIPSERWIVNFDKDL	HVIWKNCHKDVISSERWIVNFDKDL	3.0	10.0	unscreened	-	4000_X:36156083-36156083 C>T_HVIWKNCHKDVISSERWIVNFDKDL
14:94780913-94780913 G>A	0.0	4000	MELANOMA	0.0005	-	ID=COSM228170;OCCURENCE=1(skin)	-	SERPINA6	NM_001756,p.P25S|uc001ycv.3,p.P25S|ENST00000557225,p.P25S|ENST00000341584,p.P25S|ENST00000555056,p.P25S	protein_coding, nonsense_mediated_decay	uc001ycv.3	nonsynonymous SNV	exon2	c.C73T	p.P25S	PTSGLWTVQAMDPNAAYVNMSNHHR	PTSGLWTVQAMDSNAAYVNMSNHHR	1.0	7.0	unscreened	-	4000_14:94780913-94780913 G>A_PTSGLWTVQAMDSNAAYVNMSNHHR
11:85447646-85447646 G>A	1.0	4000	MELANOMA	-	-	-	-	SYTL2	uc010rtf.2,p.P19S|NM_032943,p.P161S|NM_001162951,p.P161S|ENST00000528231,p.P161S|uc001pbf.4,p.P161S|NM_001289608,p.P113S|ENST00000389960,p.P161S|uc010rti.2,p.P161S|ENST00000524452,p.P161S|uc010rth.2,p.P161S|ENST00000527523,p.P113S|uc010rtj.2,p.P113S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rtj.2	nonsynonymous SNV	exon5	c.C337T	p.P113S	RKPNVSPEKRKNPFNSSKLPEGHSS	RKPNVSPEKRKNSFNSSKLPEGHSS	10.0	9.0	-	-	4000_11:85447646-85447646 G>A_RKPNVSPEKRKNSFNSSKLPEGHSS
4:76812828-76812828 G>A	0.0	4000	MELANOMA	-	-	-	-	PPEF2	ENST00000286719,p.H72Y|uc003hix.3,p.H72Y|ENST00000511880,p.H72Y|uc003hiz.1,p.H72Y|NM_006239,p.H72Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003hiz.1	nonsynonymous SNV	exon3	c.C214T	p.H72Y	VKLHDFFSYLMDHFIPSSHNDRDFL	VKLHDFFSYLMDYFIPSSHNDRDFL	1.0	7.0	unscreened	-	4000_4:76812828-76812828 G>A_VKLHDFFSYLMDYFIPSSHNDRDFL
19:41712185-41712185 G>A	0.0	4000	MELANOMA	-	-	-	-	CYP2S1	NM_030622,p.G436E|uc002opw.3,p.G436E|ENST00000310054,p.G436E|ENST00000542619,p.G161E	protein_coding, nonsense_mediated_decay	uc002opw.3	nonsynonymous SNV	exon9	c.G1307A	p.G436E	FRKHEAFLPFSLGKRVCLGEGLAKA	FRKHEAFLPFSLEKRVCLGEGLAKA	5.0	3.0	unscreened	-	4000_19:41712185-41712185 G>A_FRKHEAFLPFSLEKRVCLGEGLAKA
3:197518226-197518226 C>A	1.0	4000	MELANOMA	-	-	-	-	LRCH3	uc011bul.1,p.P26H|ENST00000443727,p.P26H|ENST00000441090,p.P26H|ENST00000438796,p.P26H|uc003fyj.1,p.P26H|ENST00000425562,p.P26H|ENST00000334859,p.P26H|NM_032773,p.P26H|uc011bun.1,p.P26H|ENST00000414675,p.P26H|uc011bum.1,p.P26H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bun.1	nonsynonymous SNV	exon1	c.C77A	p.P26H	EYSGTVASGGNLPGVHCGPSSGAGP	EYSGTVASGGNLHGVHCGPSSGAGP	10.0	9.0	-	-	4000_3:197518226-197518226 C>A_EYSGTVASGGNLHGVHCGPSSGAGP
6:55142227-55142227 C>T	0.0	4000	MELANOMA	-	-	-	-	HCRTR2	ENST00000370862,p.P271L|uc003pcl.3,p.P271L|NM_001526,p.P271L	protein_coding	uc003pcl.3	nonsynonymous SNV	exon5	c.C812T	p.P271L	SSVVQRKWKPLQPVSQPRGPGQPTK	SSVVQRKWKPLQLVSQPRGPGQPTK	1.0	10.0	unscreened	-	4000_6:55142227-55142227 C>T_SSVVQRKWKPLQLVSQPRGPGQPTK
17:10296481-10296481 G>A	0.0	4000	MELANOMA	-	-	-	-	MYH8	NM_002472,p.S1738F|uc002gmm.2,p.S1738F|ENST00000403437,p.S1738F	protein_coding	uc002gmm.2	nonsynonymous SNV	exon36	c.C5213T	p.S1738F	LINTKKKLENDVSQLQSEVEEVIQE	LINTKKKLENDVFQLQSEVEEVIQE	1.0	2.0	unscreened	-	4000_17:10296481-10296481 G>A_LINTKKKLENDVFQLQSEVEEVIQE
11:85447646-85447646 G>A	1.0	4000	MELANOMA	-	-	-	-	SYTL2	NM_001162953,p.P162S|ENST00000316356,p.P162S|uc010rtg.2,p.P162S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rtg.2	nonsynonymous SNV	exon5	c.C484T	p.P162S	KPNVSPEKQRKNPFNSSKLPEGHSS	KPNVSPEKQRKNSFNSSKLPEGHSS	10.0	9.0	-	-	4000_11:85447646-85447646 G>A_KPNVSPEKQRKNSFNSSKLPEGHSS
17:3181925-3181925 G>A	0.0	4000	MELANOMA	-	-	-	-	OR3A2	ENST00000408891,p.S102F|NM_002551,p.S102F|uc002fvg.3,p.S102F	protein_coding	uc002fvg.3	nonsynonymous SNV	exon1	c.C305T	p.S102F	MLGRLLSHKSTISYDACLSQLFFFH	MLGRLLSHKSTIFYDACLSQLFFFH	2.0	1.0	unscreened	-	4000_17:3181925-3181925 G>A_MLGRLLSHKSTIFYDACLSQLFFFH
9:24544265-24544265 G>A	0.0	4000	MELANOMA	-	-	-	-	IZUMO3	ENST00000543880,p.P142S	protein_coding	ENST00000543880	nonsynonymous SNV	exon5	c.C424T	p.P142S	IACSEDCIVVEGPILDCWTCLRMTN	IACSEDCIVVEGSILDCWTCLRMTN	1.0	10.0	unscreened	-	4000_9:24544265-24544265 G>A_IACSEDCIVVEGSILDCWTCLRMTN
1:183273853-183273853 C>T	0.0	4000	MELANOMA	-	-	-	-	NMNAT2	ENST00000294868,p.E8K|NM_170706,p.E8K|uc001gqb.2,p.E8K	protein_coding, processed_transcript	uc001gqb.2	nonsynonymous SNV	exon1	c.G22A	p.E8K	MEIQELEEIQACQGLWEVFV	MEIQELEKIQACQGLWEVFV	2.0	4.0	unscreened	-	4000_1:183273853-183273853 C>T_MEIQELEKIQACQGLWEVFV
1:75037739-75037739 G>A	0.0	4000	MELANOMA	-	-	-	-	ERICH3	ENST00000326665,p.P1219S|NM_001002912,p.P1219S|uc001dgg.3,p.P1219S	protein_coding, processed_transcript	uc001dgg.3	nonsynonymous SNV	exon14	c.C3655T	p.P1219S	GHRQDGEGALAAPEAEPAGKVQAPE	GHRQDGEGALAASEAEPAGKVQAPE	3.0	10.0	unscreened	-	4000_1:75037739-75037739 G>A_GHRQDGEGALAASEAEPAGKVQAPE
16:84034384-84034384 G>A	0.0	4000	MELANOMA	-	-	-	-	NECAB2	NM_019065,p.E340K|ENST00000565691,p.E257K|ENST00000305202,p.E340K|uc002fhd.3,p.E340K|uc002fhe.3,p.E257K	protein_coding, processed_transcript	uc002fhe.3	nonsynonymous SNV	exon9	c.G769A	p.E257K	SDGFTFVIYEFWETEEAWKRHLQSP	SDGFTFVIYEFWKTEEAWKRHLQSP	1.0	1.0	unscreened	-	4000_16:84034384-84034384 G>A_SDGFTFVIYEFWKTEEAWKRHLQSP
12:118105284-118105284 G>A	0.0	4000	MELANOMA	-	-	-	-	KSR2	ENST00000339824,p.S389F|ENST00000425217,p.S360F|NM_173598,p.S360F|uc001two.2,p.S360F|ENST00000302438,p.S86F	retained_intron, protein_coding, processed_transcript	uc001two.2	nonsynonymous SNV	exon5	c.C1079T	p.S360F	PSTPPVHTEANFSANTLSVPRWSPQ	PSTPPVHTEANFFANTLSVPRWSPQ	1.0	4.0	unscreened	-	4000_12:118105284-118105284 G>A_PSTPPVHTEANFFANTLSVPRWSPQ
6:24580139-24580139 G>A	0.0	4000	MELANOMA	-	-	-	-	KIAA0319	NM_001168377,p.P440L|uc011djq.1,p.P431L|ENST00000543707,p.P440L|NM_001168376,p.P395L|uc011djr.1,p.P440L|uc003neh.1,p.P440L|ENST00000537886,p.P440L|NM_001168375,p.P440L|ENST00000430948,p.P395L|uc011djo.2,p.P440L|uc011djp.2,p.P395L|ENST00000378214,p.P440L|NM_001168374,p.P431L|ENST00000535378,p.P431L|NM_014809,p.P440L	protein_coding	uc011djr.1	nonsynonymous SNV	exon8	c.C1319T	p.P440L	RRVNLPPVAVVSPQLQELTLPLTSA	RRVNLPPVAVVSLQLQELTLPLTSA	1.0	1.0	unscreened	-	4000_6:24580139-24580139 G>A_RRVNLPPVAVVSLQLQELTLPLTSA
4:187171498-187171498 C>T	0.0	4000	MELANOMA	-	-	-	-	KLKB1	uc003iyy.3,p.H234Y|ENST00000264690,p.H234Y|NM_000892,p.H234Y|uc011cld.2,p.H196Y|ENST00000513864,p.H234Y	retained_intron, protein_coding	uc011cld.2	nonsynonymous SNV	exon8	c.C586T	p.H196Y	PDAFVCRTICTYHPNCLFFTFYTNV	PDAFVCRTICTYYPNCLFFTFYTNV	2.0	6.0	unscreened	-	4000_4:187171498-187171498 C>T_PDAFVCRTICTYYPNCLFFTFYTNV
19:2227760-2227760 C>T	0.0	4000	MELANOMA	-	-	-	-	DOT1L	ENST00000457590,p.S459F	retained_intron, protein_coding, processed_transcript	ENST00000457590	nonsynonymous SNV	exon6	c.C1376T	p.S459F	ELVLGVFNHAVPSASAHPFGARVGR	ELVLGVFNHAVPFASAHPFGARVGR	7.0	10.0	unscreened	-	4000_19:2227760-2227760 C>T_ELVLGVFNHAVPFASAHPFGARVGR
20:44680378-44680378 A>G	0.0	4000	MELANOMA	-	-	-	-	SLC12A5	uc002xrb.2,p.N749S|NM_020708,p.N749S|ENST00000243964,p.N749S|ENST00000454036,p.N772S|uc010zxl.1,p.N772S|NM_001134771,p.N772S	protein_coding	uc010zxl.1	nonsynonymous SNV	exon18	c.A2315G	p.N772S	KVKGFCQVVISSNLRDGVSHLIQSG	KVKGFCQVVISSSLRDGVSHLIQSG	3.0	10.0	unscreened	-	4000_20:44680378-44680378 A>G_KVKGFCQVVISSSLRDGVSHLIQSG
16:50757219-50757219 G>A	0.0	4000	MELANOMA	-	-	-	-	NOD2	uc010cbm.1,p.G686R|uc010cbq.1,p.G74R|NM_022162,p.G936R|uc010cbl.1,p.G686R|NM_001293557,p.G909R|ENST00000300589,p.G936R|uc002egm.1,p.G936R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010cbq.1	nonsynonymous SNV	exon6	c.G220A	p.G74R	GDHQSLRWLSLVGNNIGSVGAQALA	GDHQSLRWLSLVRNNIGSVGAQALA	7.0	9.0	unscreened	-	4000_16:50757219-50757219 G>A_GDHQSLRWLSLVRNNIGSVGAQALA
6:149983344-149983344 G>A	1.0	4000	MELANOMA	-	-	-	-	LATS1	ENST00000253339,p.P972S|NM_004690,p.P972S|uc003qmu.2,p.P972S|ENST00000543571,p.P972S|uc010kif.2,p.P867S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010kif.2	nonsynonymous SNV	exon9	c.C2599T	p.P867S	MKVINWQTSLHIPPQAKLSPEASDL	MKVINWQTSLHISPQAKLSPEASDL	9.0	6.0	unscreened	-	4000_6:149983344-149983344 G>A_MKVINWQTSLHISPQAKLSPEASDL
19:2227760-2227760 C>T	0.0	4000	MELANOMA	-	-	-	-	DOT1L	ENST00000446286,p.S79F|uc002lvc.1,p.S838F	retained_intron, protein_coding, processed_transcript	uc002lvc.1	nonsynonymous SNV	exon14	c.C2513T	p.S838F	GTVGGVFNHAVPSASAHPFGARVGR	GTVGGVFNHAVPFASAHPFGARVGR	7.0	10.0	unscreened	-	4000_19:2227760-2227760 C>T_GTVGGVFNHAVPFASAHPFGARVGR
4:87687627-87687627 C>G	1.0	4000	MELANOMA	-	-	-	1	PTPN13	NM_080685,p.A1434G|NM_080684,p.A1238G|uc003hqa.3,p.A1410G|uc003hqb.3,p.A1238G|uc003hpz.3,p.A1429G|NM_006264,p.A1410G|uc003hpy.3,p.A1434G|ENST00000436978,p.A1434G|ENST00000411767,p.A1429G|ENST00000316707,p.A1238G|ENST00000511467,p.A1434G|ENST00000427191,p.A1410G|NM_080683,p.A1429G	retained_intron, protein_coding	uc003hqb.3	nonsynonymous SNV	exon24	c.C3713G	p.A1238G	RVLAVNGVSLEGATHKQAVETLRNT	RVLAVNGVSLEGGTHKQAVETLRNT	6.0	3.0	-	-	4000_4:87687627-87687627 C>G_RVLAVNGVSLEGGTHKQAVETLRNT
2:230910461-230910461 C>T	0.0	4000	MELANOMA	-	-	-	-	SLC16A14	uc002vqf.3,p.G461S|ENST00000457406,p.G461S|uc002vqe.3,p.G461S|ENST00000412034,p.G461S	protein_coding	uc002vqf.3	nonsynonymous SNV	exon4	c.G1381A	p.G461S	NGISALLGPPFAGKLSEVLRAQSAC	NGISALLGPPFASKLSEVLRAQSAC	5.0	1.0	unscreened	-	4000_2:230910461-230910461 C>T_NGISALLGPPFASKLSEVLRAQSAC
6:38851167-38851167 G>A	0.0	4000	MELANOMA	-	-	-	-	DNAH8	uc003ooe.2,p.D2474N|NM_001206927,p.D2691N|uc021yzh.1,p.D2691N|ENST00000449981,p.D2691N|ENST00000441566,p.D2438N|ENST00000327475,p.D2679N|ENST00000359357,p.D2474N	protein_coding	uc021yzh.1	nonsynonymous SNV	exon55	c.G8071A	p.D2691N	KTVMVKAYLKKYDPEVQLSKSLNFS	KTVMVKAYLKKYNPEVQLSKSLNFS	2.0	10.0	unscreened	-	4000_6:38851167-38851167 G>A_KTVMVKAYLKKYNPEVQLSKSLNFS
3:81692037-81692037 G>A	1.0	4000	MELANOMA	-	-	-	-	GBE1	uc021xax.1,p.S255L|NM_000158,p.S296L|uc021xav.1,p.S296L|ENST00000429644,p.S296L|ENST00000489715,p.S255L	retained_intron, protein_coding, processed_transcript	uc021xax.1	nonsynonymous SNV	exon7	c.C764T	p.S255L	LLDVVHSHASKNSADGLNMFDGTDS	LLDVVHSHASKNLADGLNMFDGTDS	8.0	5.0	-	-	4000_3:81692037-81692037 G>A_LLDVVHSHASKNLADGLNMFDGTDS
1:204913525-204913525 C>T	0.0	4000	MELANOMA	-	-	-	-	NFASC	ENST00000367169,p.P28S|ENST00000338515,p.P28S|ENST00000367172,p.P28S|ENST00000367170,p.P28S|ENST00000338586,p.P28S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000367172	nonsynonymous SNV	exon3	c.C82T	p.P28S	LCLLSLGGAIEIPMDPNPQHRLTQP	LCLLSLGGAIEISMDPNPQHRLTQP	4.0	10.0	unscreened	-	4000_1:204913525-204913525 C>T_LCLLSLGGAIEISMDPNPQHRLTQP
17:64637548-64637548 C>T	0.0	4000	MELANOMA	-	-	-	-	PRKCA	ENST00000413366,p.L122F|ENST00000578063,p.L122F|NM_002737,p.L122F|uc002jfp.1,p.L122F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jfp.1	nonsynonymous SNV	exon4	c.C364T	p.L122F	GSPTFCDHCGSLLYGLIHQGMKCDT	GSPTFCDHCGSLFYGLIHQGMKCDT	6.0	5.0	unscreened	-	4000_17:64637548-64637548 C>T_GSPTFCDHCGSLFYGLIHQGMKCDT
2:19553523-19553523 G>A	0.0	4000	MELANOMA	-	-	-	-	OSR1	NM_145260,p.S15F|uc002rdc.3,p.S15F|ENST00000272223,p.S15F|ENST00000536433,p.S15F	retained_intron, protein_coding, processed_transcript	uc002rdc.3	nonsynonymous SNV	exon2	c.C44T	p.S15F	SKTLPAPVPIHPSLQLTNYSFLQAV	SKTLPAPVPIHPFLQLTNYSFLQAV	4.0	3.0	unscreened	-	4000_2:19553523-19553523 G>A_SKTLPAPVPIHPFLQLTNYSFLQAV
5:140307001-140307001 C>T	0.0	4000	MELANOMA	-	-	-	-	PCDHAC1	uc003lih.2,p.S175L|NM_018898,p.S175L|ENST00000253807,p.S175L|uc003lig.1,p.S175L|ENST00000409700,p.S175L|NM_031882,p.S175L	protein_coding	uc003lih.2	nonsynonymous SNV	exon1	c.C524T	p.S175L	LSPSQHFRLDMGSRVDGSEYPELVL	LSPSQHFRLDMGLRVDGSEYPELVL	2.0	1.0	unscreened	-	4000_5:140307001-140307001 C>T_LSPSQHFRLDMGLRVDGSEYPELVL
15:64967263-64967263 C>T	1.0	4000	MELANOMA	-	-	-	-	ZNF609	NM_015042,p.S737F|uc002ann.3,p.S737F|ENST00000326648,p.S737F	protein_coding, processed_transcript	uc002ann.3	nonsynonymous SNV	exon4	c.C2210T	p.S737F	KDKKKKDKKKKESSKELESPLTPGK	KDKKKKDKKKKEFSKELESPLTPGK	8.0	6.0	-	-	4000_15:64967263-64967263 C>T_KDKKKKDKKKKEFSKELESPLTPGK
11:5153457-5153457 G>A	0.0	4000	MELANOMA	-	-	-	-	OR52A5	NM_001005160,p.S139F|uc010qyx.2,p.S139F|ENST00000307388,p.S139F	protein_coding	uc010qyx.2	nonsynonymous SNV	exon1	c.C416T	p.S139F	AICIPLRHATIFSQQFLTHIGLGVT	AICIPLRHATIFFQQFLTHIGLGVT	1.0	7.0	unscreened	-	4000_11:5153457-5153457 G>A_AICIPLRHATIFFQQFLTHIGLGVT
20:58587745-58587745 C>T	0.0	4000	MELANOMA	-	-	-	-	CDH26	uc002ybi.3,p.P112L|uc002ybe.3,p.P820L|NM_177980,p.P820L|ENST00000244049,p.P112L|uc002ybh.3,p.P153L|NM_021810,p.P153L|ENST00000350849,p.P153L|ENST00000348616,p.P820L	protein_coding, processed_transcript	uc002ybi.3	nonsynonymous SNV	exon4	c.C335T	p.P112L	PDLLDSLGSKATPFEEIYSESGVPS	PDLLDSLGSKATLFEEIYSESGVPS	4.0	6.0	unscreened	-	4000_20:58587745-58587745 C>T_PDLLDSLGSKATLFEEIYSESGVPS
3:39229823-39229823 C>T	0.0	4000	MELANOMA	-	-	-	-	XIRP1	ENST00000340369,p.E372K|uc003cjk.2,p.E372K|uc003cji.3,p.E372K|ENST00000396251,p.E372K|NM_194293,p.E372K|NM_001198621,p.E372K|uc021wvz.1,p.E372K	protein_coding	uc021wvz.1	nonsynonymous SNV	exon1	c.G1114A	p.E372K	DEEAGAEAPPKEEVVPGDVRSTLWL	DEEAGAEAPPKEKVVPGDVRSTLWL	4.0	6.0	unscreened	-	4000_3:39229823-39229823 C>T_DEEAGAEAPPKEKVVPGDVRSTLWL
5:23526905-23526905 C>T	0.0	4000	MELANOMA	-	-	-	-	PRDM9	ENST00000296682,p.H570Y|NM_020227,p.H570Y|uc003jgo.3,p.H570Y	protein_coding	uc003jgo.3	nonsynonymous SNV	exon11	c.C1708T	p.H570Y	GRGFSWKSHLLIHQRIHTGEKPYVC	GRGFSWKSHLLIYQRIHTGEKPYVC	1.0	3.0	unscreened	-	4000_5:23526905-23526905 C>T_GRGFSWKSHLLIYQRIHTGEKPYVC
11:128680809-128680809 G>A	0.0	4000	MELANOMA	-	-	-	1	FLI1	NM_001271010,p.G363R|NM_001271012,p.G236R|uc009zci.3,p.G363R|ENST00000525560,p.G236R|NM_002017,p.G429R|ENST00000534087,p.G396R|ENST00000344954,p.G396R|uc010sbt.2,p.G236R|uc010sbu.2,p.G429R|uc010sbv.2,p.G396R|NM_001167681,p.G396R|ENST00000429175,p.G429R|ENST00000281428,p.G363R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sbv.2	nonsynonymous SNV	exon10	c.G1186A	p.G396R	GAASQYWTSPTGGIYPNPNVPRHPN	GAASQYWTSPTGRIYPNPNVPRHPN	9.0	7.0	unscreened	-	4000_11:128680809-128680809 G>A_GAASQYWTSPTGRIYPNPNVPRHPN
7:142611874-142611874 C>T	0.0	4000	MELANOMA	-	-	-	-	TRPV5	NM_019841,p.M485I|ENST00000439304,p.M430I|uc003wby.1,p.M485I|ENST00000265310,p.M485I	protein_coding	uc003wby.1	nonsynonymous SNV	exon12	c.G1455A	p.M485I	QMLGPFTIMIQKMIFGDLMRFCWLM	QMLGPFTIMIQKIIFGDLMRFCWLM	2.0	2.0	unscreened	-	4000_7:142611874-142611874 C>T_QMLGPFTIMIQKIIFGDLMRFCWLM
5:143853612-143853612 C>T	0.0	4000	MELANOMA	-	-	-	-	KCTD16	uc003lnm.1,p.P408S|NM_020768,p.P408S|ENST00000512467,p.P408S|uc003lnn.1,p.P408S|ENST00000507359,p.P408S	protein_coding	uc003lnn.1	nonsynonymous SNV	exon3	c.C1222T	p.P408S	EKCIQDFLKIKIPDRFPERKHPWQS	EKCIQDFLKIKISDRFPERKHPWQS	4.0	1.0	unscreened	-	4000_5:143853612-143853612 C>T_EKCIQDFLKIKISDRFPERKHPWQS
7:21939723-21939723 G>A	0.0	4000	MELANOMA	-	-	ID=COSM746441;OCCURENCE=1(lung)	-	DNAH11	uc031swp.1,p.G4430R|ENST00000328843,p.G4437R|NM_001277115,p.G4430R|ENST00000409508,p.G4430R|uc031swq.1,p.G2627R	retained_intron, protein_coding, processed_transcript	uc031swq.1	nonsynonymous SNV	exon81	c.G7879A	p.G2627R	YGHPPREGAYLHGLFMEGARWDTQA	YGHPPREGAYLHRLFMEGARWDTQA	3.0	7.0	unscreened	-	4000_7:21939723-21939723 G>A_YGHPPREGAYLHRLFMEGARWDTQA
X:69282732-69282732 C>A	0.0	4000	MELANOMA	-	-	-	-	OTUD6A	NM_207320,p.H120N|ENST00000338352,p.H120N|uc004dxu.1,p.H120N	protein_coding	uc004dxu.1	nonsynonymous SNV	exon1	c.C358A	p.H120N	RQESIFQAEMSEHLAGFKREEEEKL	RQESIFQAEMSENLAGFKREEEEKL	1.0	8.0	unscreened	-	4000_X:69282732-69282732 C>A_RQESIFQAEMSENLAGFKREEEEKL
9:107266951-107266951 G>A	0.0	4000	MELANOMA	-	-	-	-	OR13F1	NM_001004485,p.M136I|uc011lvm.2,p.M136I|ENST00000334726,p.M136I	protein_coding	uc011lvm.2	nonsynonymous SNV	exon1	c.G408A	p.M136I	VAICNPLRYPVIMNRRTCVQIAAGS	VAICNPLRYPVIINRRTCVQIAAGS	1.0	10.0	unscreened	-	4000_9:107266951-107266951 G>A_VAICNPLRYPVIINRRTCVQIAAGS
7:99170553-99170553 T>A	1.0	4000	MELANOMA	-	-	-	-	ZNF655	uc010lga.3,p.D309E|ENST00000424881,p.D309E|NM_001083956,p.D309E|ENST00000493277,p.D309E|ENST00000394163,p.D274E|NM_138494,p.D274E|uc003urh.3,p.D274E|NM_001085368,p.D309E|uc010lgd.3,p.D111E|uc003urk.3,p.D111E|uc003urj.3,p.D274E|uc010lgc.3,p.D309E|ENST00000252713,p.D274E|NM_001009960,p.D274E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lgd.3	nonsynonymous SNV	exon3	c.T333A	p.D111E	HTREKPYKCEASDKSCEASDKSCSP	HTREKPYKCEASEKSCEASDKSCSP	9.0	6.0	-	-	4000_7:99170553-99170553 T>A_HTREKPYKCEASEKSCEASDKSCSP
1:204913525-204913525 C>T	0.0	4000	MELANOMA	-	-	-	-	NFASC	ENST00000539706,p.P28S|ENST00000404076,p.P28S|NM_001160332,p.P28S|ENST00000360049,p.P28S|ENST00000513543,p.P28S|NM_001160333,p.P28S|uc010pra.2,p.P28S|uc010prb.2,p.P28S|NM_001160331,p.P28S|uc009xbg.1,p.P101S|ENST00000404907,p.P28S|NM_015090,p.P28S|uc001hbi.3,p.P28S|uc010pqz.2,p.P28S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010prb.2	nonsynonymous SNV	exon1	c.C82T	p.P28S	LCLLSLGGAIEIPMDLTQPPTITKQ	LCLLSLGGAIEISMDLTQPPTITKQ	4.0	10.0	unscreened	-	4000_1:204913525-204913525 C>T_LCLLSLGGAIEISMDLTQPPTITKQ
17:10304750-10304750 C>T	0.0	4000	MELANOMA	-	-	-	-	MYH8	uc002gmm.2,p.E984K|NM_002472,p.E984K|ENST00000403437,p.E984K	protein_coding	uc002gmm.2	nonsynonymous SNV	exon24	c.G2950A	p.E984K	HATENKVKNLTEEMAGLDETIAKLS	HATENKVKNLTEKMAGLDETIAKLS	1.0	9.0	unscreened	-	4000_17:10304750-10304750 C>T_HATENKVKNLTEKMAGLDETIAKLS
20:54575842-54575842 C>-	0.0	4000	MELANOMA	-	-	-	-	CBLN4	uc002xxa.4,p.G118fs|NM_080617,p.G118fs|ENST00000064571,p.G118fs	protein_coding	uc002xxa.4	frameshift deletion	exon2	c.353delG	p.G118fs	FTLESVFVAPRKGIYSFSFHVIKVY	FTLESVFVAPRKEFTVSVFT	1.0	5.0	unscreened	-	4000_20:54575842-54575842 C>-_FTLESVFVAPRKEFTVSVFT
16:67680108-67680108 C>T	0.0	4000	MELANOMA	-	-	-	-	RLTPR	NM_001013838,p.S90F|uc010vjr.2,p.S90F|uc010cel.1,p.S90F|ENST00000334583,p.S90F|uc002etn.3,p.S90F|ENST00000545661,p.S90F	protein_coding	uc010vjr.2	nonsynonymous SNV	exon5	c.C269T	p.S90F	QETPPQVTFELESLRELVLEFPGVA	QETPPQVTFELEFLRELVLEFPGVA	5.0	7.0	unscreened	-	4000_16:67680108-67680108 C>T_QETPPQVTFELEFLRELVLEFPGVA
13:108518469-108518469 C>T	0.0	4000	MELANOMA	-	-	-	-	FAM155A	ENST00000375915,p.G159E|NM_001080396,p.G159E|uc001vql.3,p.G159E	protein_coding	uc001vql.3	nonsynonymous SNV	exon1	c.G476A	p.G159E	RGKDDRGKALFLGNSAKPVWRLETC	RGKDDRGKALFLENSAKPVWRLETC	2.0	1.0	unscreened	-	4000_13:108518469-108518469 C>T_RGKDDRGKALFLENSAKPVWRLETC
8:114326902-114326902 C>T	0.0	4000	MELANOMA	-	-	-	2	CSMD3	NM_052900,p.R100Q|uc003ynx.4,p.R100Q|ENST00000343508,p.R60Q|ENST00000297405,p.R100Q|ENST00000455883,p.R100Q|NM_198124,p.R60Q|uc003ynt.3,p.R60Q|uc003ynu.3,p.R100Q|uc011lhx.2,p.R100Q|NM_198123,p.R100Q|ENST00000352409,p.R100Q|uc010mcx.1,p.R100Q	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon2	c.G299A	p.R100Q	GANCTWVIIAEERNRIQIVFQSFAL	GANCTWVIIAEEQNRIQIVFQSFAL	1.0	10.0	unscreened	-	4000_8:114326902-114326902 C>T_GANCTWVIIAEEQNRIQIVFQSFAL
4:160268138-160268138 C>T	1.0	4000	MELANOMA	-	-	-	-	RAPGEF2	uc003iqg.4,p.L1073F|NM_014247,p.L1073F|ENST00000264431,p.L1073F	retained_intron, protein_coding, processed_transcript	uc003iqg.4	nonsynonymous SNV	exon19	c.C3217T	p.L1073F	LYPSRKKVPVKDLPPFGINSPQALK	LYPSRKKVPVKDFPPFGINSPQALK	10.0	3.0	-	-	4000_4:160268138-160268138 C>T_LYPSRKKVPVKDFPPFGINSPQALK
7:89854418-89854418 G>A	0.0	4000	MELANOMA	-	-	-	-	STEAP2	uc003ujy.2,p.G50R	retained_intron, protein_coding	uc003ujy.2	nonsynonymous SNV	exon2	c.G148A	p.G50R	GSVRIMESISMMGSPKSLSETFLPN	GSVRIMESISMMRSPKSLSETFLPN	5.0	8.0	unscreened	-	4000_7:89854418-89854418 G>A_GSVRIMESISMMRSPKSLSETFLPN
1:204913525-204913525 C>T	0.0	4000	MELANOMA	-	-	-	-	NFASC	NM_001005389,p.P28S|ENST00000505079,p.P28S|NM_001005388,p.P28S|ENST00000403080,p.P28S|uc001hbj.3,p.P28S|ENST00000339876,p.P28S|ENST00000504476,p.P28S|uc001hbh.3,p.P28S|ENST00000446412,p.P28S|ENST00000401399,p.P28S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001hbj.3	nonsynonymous SNV	exon3	c.C82T	p.P28S	LCLLSLGGAIEIPMDPSIQNELTQP	LCLLSLGGAIEISMDPSIQNELTQP	4.0	10.0	unscreened	-	4000_1:204913525-204913525 C>T_LCLLSLGGAIEISMDPSIQNELTQP
19:1912920-1912920 C>T	0.0	4000	MELANOMA	-	-	-	-	ADAT3	uc021umn.2,p.P292S|NM_138422,p.P292S|ENST00000329478,p.P292S|uc002luh.4,p.P292S|ENST00000602400,p.P276S	protein_coding	uc021umn.2	nonsynonymous SNV	exon1	c.C874T	p.P292S	AVRKLDADEDGLPYLCTGYDLYVTR	AVRKLDADEDGLSYLCTGYDLYVTR	5.0	6.0	unscreened	-	4000_19:1912920-1912920 C>T_AVRKLDADEDGLSYLCTGYDLYVTR
10:84118538-84118538 C>T	0.0	4000	MELANOMA	-	-	-	-	NRG3	ENST00000555784,p.P60L	protein_coding, nonsense_mediated_decay	ENST00000555784	nonsynonymous SNV	exon2	c.C179T	p.P60L	RHIPQSDPSTSNPAETRTLHTVSMM	RHIPQSDPSTSNLAETRTLHTVSMM	1.0	3.0	unscreened	-	4000_10:84118538-84118538 C>T_RHIPQSDPSTSNLAETRTLHTVSMM
8:70744061-70744061 G>A	0.0	4000	MELANOMA	-	-	-	-	SLCO5A1	ENST00000524945,p.T283I|NM_030958,p.T283I|ENST00000530307,p.T283I|uc010lzb.3,p.T283I|uc003xyl.3,p.T283I|NM_001146008,p.T283I|ENST00000260126,p.T283I|uc003xyk.3,p.T283I|uc010lzc.2,p.T283I|NM_001146009,p.T283I|ENST00000526750,p.T283I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lzc.2	nonsynonymous SNV	exon2	c.C848T	p.T283I	QILIGMGSTPIYTLGPTYLDDNVKK	QILIGMGSTPIYILGPTYLDDNVKK	3.0	2.0	unscreened	-	4000_8:70744061-70744061 G>A_QILIGMGSTPIYILGPTYLDDNVKK
10:24831843-24831843 C>T	0.0	4000	MELANOMA	-	-	-	-	KIAA1217	uc001isa.1,p.P51L|uc001irx.3,p.P898L|uc001iru.4,p.P1215L|ENST00000376451,p.P898L|ENST00000376454,p.P1215L|NM_019590,p.P1215L	retained_intron, protein_coding, processed_transcript	uc001isa.1	nonsynonymous SNV	exon2	c.C152T	p.P51L	QKVTTGAVRPSDPPKWERGMENSIS	QKVTTGAVRPSDLPKWERGMENSIS	5.0	8.0	unscreened	-	4000_10:24831843-24831843 C>T_QKVTTGAVRPSDLPKWERGMENSIS
12:541037-541038 AA>-	0.0	4000	MELANOMA	-	-	-	-	CCDC77	ENST00000540180,p.K165fs|NM_001130146,p.K165fs|ENST00000422000,p.K165fs|ENST00000239830,p.K197fs|uc010sdp.2,p.K165fs|ENST00000543504,p.K165fs|NM_032358,p.K197fs|NM_001130147,p.K165fs|NM_001130148,p.K165fs|uc010sdq.2,p.K165fs|ENST00000412006,p.K165fs|uc009zdk.3,p.K165fs|uc001qig.3,p.K197fs	retained_intron, protein_coding, processed_transcript	uc010sdq.2	frameshift deletion	exon7	c.493_494del	p.K165fs	EQSESSAFKADPKISKRRPSRERKE	EQSESSAFKADPNKQKKTIEREKRKF	7.0	5.0	unscreened	-	4000_12:541037-541038 AA>-_EQSESSAFKADPNKQKKTIEREKRKF
16:31151864-31151864 G>A	0.0	4000	MELANOMA	-	-	-	-	PRSS36	uc010vfg.3,p.P701S|uc002ebd.4,p.P706S|ENST00000569305,p.P701S|uc010vff.3,p.P481S|NM_173502,p.P706S|NM_001258290,p.P701S|ENST00000268281,p.P706S	retained_intron, protein_coding, nonsense_mediated_decay	uc010vfg.3	nonsynonymous SNV	exon13	c.C2101T	p.P701S	SALPICLHPAGIPPGASCWVLGWKE	SALPICLHPAGISPGASCWVLGWKE	3.0	3.0	unscreened	-	4000_16:31151864-31151864 G>A_SALPICLHPAGISPGASCWVLGWKE
7:24738856-24738856 C>T	0.0	4000	MELANOMA	-	-	-	-	DFNA5	ENST00000409970,p.G263E|uc010kut.1,p.G263E|NM_001127453,p.G427E|ENST00000342947,p.G427E|NM_004403,p.G427E|uc010kus.1,p.G427E|uc003sxa.1,p.G427E|NM_001127454,p.G263E|ENST00000409775,p.G427E|ENST00000545231,p.G263E|ENST00000419307,p.G263E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kut.1	nonsynonymous SNV	exon9	c.G788A	p.G263E	TLCHLLRALSDDGVSDLEDPTLTPL	TLCHLLRALSDDEVSDLEDPTLTPL	7.0	6.0	unscreened	-	4000_7:24738856-24738856 C>T_TLCHLLRALSDDEVSDLEDPTLTPL
1:248801989-248801989 C>T	0.0	4000	MELANOMA	-	-	-	-	OR2T35	ENST00000317450,p.D191N|uc001ies.1,p.D191N|NM_001001827,p.D191N	protein_coding	uc001ies.1	nonsynonymous SNV	exon1	c.G571A	p.D191N	CEIPAVLKLSCTDTSLYETLMYACC	CEIPAVLKLSCTNTSLYETLMYACC	1.0	6.0	unscreened	-	4000_1:248801989-248801989 C>T_CEIPAVLKLSCTNTSLYETLMYACC
4:87968519-87968519 T>C	1.0	4000	MELANOMA	-	-	-	1	AFF1	uc011ccz.2,p.S278P|uc003hqj.4,p.S271P|ENST00000503477,p.S278P|ENST00000395146,p.S278P|NM_005935,p.S271P|uc011ccx.2,p.S212P|uc003hqh.2,p.S278P|uc003hqk.4,p.S271P|uc011ccy.2,p.S278P|ENST00000307808,p.S271P|NM_001166693,p.S278P|ENST00000507468,p.S278P	retained_intron, protein_coding, processed_transcript	uc011ccz.2	nonsynonymous SNV	exon4	c.T832C	p.S278P	PQDSLVAPAQPPSQTFPPPSLPSKS	PQDSLVAPAQPPPQTFPPPSLPSKS	10.0	3.0	-	-	4000_4:87968519-87968519 T>C_PQDSLVAPAQPPPQTFPPPSLPSKS
2:182400198-182400198 G>A	1.0	4000	MELANOMA	-	-	-	-	ITGA4	ENST00000397033,p.E1015K|uc002unu.3,p.E1015K|NM_000885,p.E1015K|uc002unv.3,p.E260K	retained_intron, protein_coding, processed_transcript	uc002unv.3	nonsynonymous SNV	exon11	c.G778A	p.E260K	GFFKRQYKSILQEENRRDSWSYINS	GFFKRQYKSILQKENRRDSWSYINS	9.0	6.0	-	-	4000_2:182400198-182400198 G>A_GFFKRQYKSILQKENRRDSWSYINS
5:128365392-128365392 A>G	0.0	4000	MELANOMA	-	-	-	-	SLC27A6	uc003kuy.3,p.R559G|ENST00000395266,p.R559G|NM_001017372,p.R559G|ENST00000506176,p.R559G|uc003kuz.3,p.R559G|NM_014031,p.R559G|ENST00000262462,p.R559G	protein_coding	uc003kuz.3	nonsynonymous SNV	exon9	c.A1675G	p.R559G	TFLPAYACPRFLRIQEKMEATGTFK	TFLPAYACPRFLGIQEKMEATGTFK	1.0	5.0	unscreened	-	4000_5:128365392-128365392 A>G_TFLPAYACPRFLGIQEKMEATGTFK
3:193061826-193061826 G>A	0.0	4000	MELANOMA	-	-	-	-	ATP13A5	ENST00000342358,p.S278F|NM_198505,p.S278F|uc011bsq.2,p.S278F	retained_intron, protein_coding, processed_transcript	uc011bsq.2	nonsynonymous SNV	exon9	c.C833T	p.S278F	IIVKDKGLEELESRLLVPGDILILP	IIVKDKGLEELEFRLLVPGDILILP	1.0	5.0	unscreened	-	4000_3:193061826-193061826 G>A_IIVKDKGLEELEFRLLVPGDILILP
11:60704275-60704275 C>T	0.0	4000	MELANOMA	-	-	-	-	TMEM132A	NM_178031,p.L990F|uc001nqj.3,p.L990F|uc001nqi.3,p.L991F|ENST00000453848,p.L990F|NM_017870,p.L991F|ENST00000005286,p.L991F	retained_intron, protein_coding, processed_transcript	uc001nqj.3	nonsynonymous SNV	exon11	c.C2968T	p.L990F	EEPVGAPAVQSILVAGEEDIRWVCE	EEPVGAPAVQSIFVAGEEDIRWVCE	6.0	3.0	unscreened	-	4000_11:60704275-60704275 C>T_EEPVGAPAVQSIFVAGEEDIRWVCE
4:100532325-100532325 G>A	0.0	4000	MELANOMA	-	-	-	-	MTTP	NM_000253,p.E599K|uc003hvc.4,p.E599K|ENST00000265517,p.E599K|ENST00000511045,p.E626K|ENST00000457717,p.E599K|NM_001300785,p.E626K|uc011cej.2,p.E626K	protein_coding, nonsense_mediated_decay	uc011cej.2	nonsynonymous SNV	exon13	c.G1876A	p.E626K	MPASKIVRRVLKEMVAHNYDRFSRS	MPASKIVRRVLKKMVAHNYDRFSRS	6.0	9.0	unscreened	-	4000_4:100532325-100532325 G>A_MPASKIVRRVLKKMVAHNYDRFSRS
15:89401298-89401298 G>A	0.0	4000	MELANOMA	-	-	-	-	ACAN	NM_001135,p.G1828R|ENST00000439576,p.G1828R|NM_013227,p.G1828R|uc010upp.1,p.G1828R|ENST00000352105,p.G1828R|ENST00000561243,p.G1828R|uc010upo.1,p.G1828R|ENST00000559004,p.G1828R	retained_intron, protein_coding	uc010upp.1	nonsynonymous SNV	exon12	c.G5482A	p.G1828R	VSGTTSGSGESSGITFVDTSLVEVA	VSGTTSGSGESSRITFVDTSLVEVA	1.0	8.0	unscreened	-	4000_15:89401298-89401298 G>A_VSGTTSGSGESSRITFVDTSLVEVA
7:117171064-117171064 C>A	0.0	4000	MELANOMA	-	-	-	-	CFTR	NM_000492,p.L129I|uc003vjd.3,p.L129I|ENST00000003084,p.L129I|ENST00000454343,p.L129I|ENST00000426809,p.L129I	protein_coding, processed_transcript, nonsense_mediated_decay	uc003vjd.3	nonsynonymous SNV	exon4	c.C385A	p.L129I	RSIAIYLGIGLCLLFIVRTLLLHPA	RSIAIYLGIGLCILFIVRTLLLHPA	2.0	4.0	unscreened	-	4000_7:117171064-117171064 C>A_RSIAIYLGIGLCILFIVRTLLLHPA
10:116201542-116201542 G>A	0.0	4000	MELANOMA	-	-	-	-	ABLIM1	ENST00000277895,p.S646L|uc021pyw.1,p.S646L|ENST00000392952,p.S323L|uc021pzf.1,p.S610L|NM_002313,p.S646L|ENST00000392955,p.S586L|uc021pzc.1,p.S262L|uc021pyx.1,p.S646L|NM_001003408,p.S614L|NM_006720,p.S323L|NM_001003407,p.S586L|uc021pza.1,p.S586L|uc021pzd.1,p.S459L|ENST00000369252,p.S586L|uc021pze.1,p.S523L|ENST00000533213,p.S586L|ENST00000369253,p.S269L|ENST00000369266,p.S323L|uc021pzb.1,p.S241L|uc021pyu.1,p.S323L|uc021pyy.1,p.S614L|ENST00000369256,p.S616L	protein_coding, processed_transcript	uc021pzf.1	nonsynonymous SNV	exon19	c.C1829T	p.S610L	LASRYDSPINSASHIPSSKTASLPG	LASRYDSPINSALHIPSSKTASLPG	8.0	6.0	unscreened	-	4000_10:116201542-116201542 G>A_LASRYDSPINSALHIPSSKTASLPG
3:97983397-97983397 C>T	0.0	4000	MELANOMA	-	-	-	-	OR5H6	NM_001005479,p.S90L|uc003dsi.1,p.S90L|ENST00000383696,p.S90L	protein_coding	uc003dsi.1	nonsynonymous SNV	exon1	c.C269T	p.S90L	FLGSLAFVDASLSSTVTPKMLINFL	FLGSLAFVDASLLSTVTPKMLINFL	1.0	7.0	unscreened	-	4000_3:97983397-97983397 C>T_FLGSLAFVDASLLSTVTPKMLINFL
19:56424129-56424129 C>T	0.0	4000	MELANOMA	-	-	-	-	NLRP13	ENST00000588751,p.E352K|uc010ygg.2,p.E352K|NM_176810,p.E352K|ENST00000342929,p.E352K	protein_coding	uc010ygg.2	nonsynonymous SNV	exon5	c.G1054A	p.E352K	PVTKILHSLLKKELVPLATLLITIK	PVTKILHSLLKKKLVPLATLLITIK	1.0	9.0	unscreened	-	4000_19:56424129-56424129 C>T_PVTKILHSLLKKKLVPLATLLITIK
17:34073267-34073267 G>A	0.0	4000	MELANOMA	-	-	-	-	GAS2L2	ENST00000254466,p.P417S|ENST00000587565,p.P401S|NM_139285,p.P417S|uc002hjv.2,p.P417S	protein_coding	uc002hjv.2	nonsynonymous SNV	exon6	c.C1249T	p.P417S	ERYPPELPRGRIPTSWVHEETDSWG	ERYPPELPRGRISTSWVHEETDSWG	1.0	5.0	unscreened	-	4000_17:34073267-34073267 G>A_ERYPPELPRGRISTSWVHEETDSWG
5:35003953-35003953 G>A	0.0	4000	MELANOMA	-	-	-	-	AGXT2	uc003jje.1,p.P104L|uc011com.2,p.P376L|uc003jjf.3,p.P451L|ENST00000510428,p.P376L|ENST00000231420,p.P451L|NM_031900,p.P451L	retained_intron, protein_coding, nonsense_mediated_decay	uc011com.2	nonsynonymous SNV	exon11	c.C1127T	p.P376L	GIEMVQDKISCRPLPREEVNQIHED	GIEMVQDKISCRLLPREEVNQIHED	1.0	8.0	unscreened	-	4000_5:35003953-35003953 G>A_GIEMVQDKISCRLLPREEVNQIHED
9:37015115-37015115 C>T	0.0	4000	MELANOMA	-	-	-	1	PAX5	ENST00000377853,p.E97K|uc011lpz.1,p.E97K|NM_001280554,p.E97K|uc010mlo.1,p.E97K|uc010mlr.1,p.E97K|ENST00000358127,p.E97K|uc003zzo.1,p.E97K|ENST00000523493,p.E97K|NM_001280553,p.E97K|uc011lpw.1,p.E97K|NM_001280549,p.E97K|uc011lqc.1,p.E97K|ENST00000520281,p.E97K|ENST00000377852,p.E97K|uc010mlp.1,p.E97K|ENST00000377840,p.E97K|ENST00000377847,p.E97K|uc010mls.1,p.E97K|NM_001280550,p.E97K|NM_001280547,p.E97K|ENST00000414447,p.E97K|NM_016734,p.E97K|ENST00000523241,p.E97K|NM_001280552,p.E97K|NM_001280548,p.E97K|ENST00000520154,p.E97K	retained_intron, protein_coding, nonsense_mediated_decay	uc011lqc.1	nonsynonymous SNV	exon3	c.G289A	p.E97K	GSKPKVATPKVVEKIAEYKRQNPTM	GSKPKVATPKVVKKIAEYKRQNPTM	5.0	7.0	unscreened	-	4000_9:37015115-37015115 C>T_GSKPKVATPKVVKKIAEYKRQNPTM
10:55582906-55582906 G>A	0.0	4000	MELANOMA	-	-	-	-	PCDH15	NM_001142768,p.P1507L|NM_033056,p.P1527L|NM_001142767,p.P1487L|ENST00000395430,p.P1524L|NM_001142764,p.P1529L|uc010qhy.1,p.P1534L|uc010qhz.1,p.P1529L|ENST00000395433,p.P1504L|uc010qhv.1,p.P1524L|uc010qhw.1,p.P1487L|uc021pqz.1,p.P1504L|uc010qib.1,p.P1504L|NM_001142763,p.P1534L|uc010qhx.1,p.P1458L|ENST00000437009,p.P1458L|ENST00000361849,p.P1529L|uc021pqy.1,p.P1529L|uc010qia.1,p.P1507L|ENST00000320301,p.P1527L|ENST00000395432,p.P1487L|uc001jju.1,p.P1527L|NM_001142765,p.P1458L|NM_001142773,p.P1504L|NM_001142766,p.P1524L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqz.1	nonsynonymous SNV	exon31	c.C4511T	p.P1504L	FLSDEDDLSAHNPLYKENISQVSTN	FLSDEDDLSAHNLLYKENISQVSTN	1.0	4.0	unscreened	-	4000_10:55582906-55582906 G>A_FLSDEDDLSAHNLLYKENISQVSTN
17:21319040-21319040 G>A	0.0	4000	MELANOMA	-	-	-	-	KCNJ12,KCNJ18	ENST00000583088,p.G129D|uc002gyv.1,p.G129D|NM_021012,p.G129D|uc021tst.1,p.G129D|ENST00000331718,p.G129D	protein_coding	uc021tst.1	nonsynonymous SNV	exon1	c.G386A	p.G129D	GRGRTPCVMQVHGFMAAFLFSIETQ	GRGRTPCVMQVHDFMAAFLFSIETQ	1.0	1.0	unscreened	-	4000_17:21319040-21319040 G>A_GRGRTPCVMQVHDFMAAFLFSIETQ
17:21319040-21319040 G>A	0.0	4000	MELANOMA	-	-	-	-	KCNJ12,KCNJ18	uc021tss.1,p.G129D|NM_001194958,p.G129D	protein_coding	uc021tss.1	nonsynonymous SNV	exon3	c.G386A	p.G129D	GHGRTPCVMQVHGFMAAFLFSIETQ	GHGRTPCVMQVHDFMAAFLFSIETQ	1.0	1.0	unscreened	-	4000_17:21319040-21319040 G>A_GHGRTPCVMQVHDFMAAFLFSIETQ
16:84449100-84449100 G>A	0.0	4000	MELANOMA	-	-	-	-	ATP2C2	uc002fhz.3,p.G25E|NM_001291454,p.G25E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc002fhz.3	nonsynonymous SNV	exon4	c.G74A	p.G25E	SWSLSPSSSLREGKLQHLLARELVP	SWSLSPSSSLREEKLQHLLARELVP	2.0	4.0	unscreened	-	4000_16:84449100-84449100 G>A_SWSLSPSSSLREEKLQHLLARELVP
1:247695011-247695011 G>A	0.0	4000	MELANOMA	-	-	-	-	OR2C3	NM_198074,p.S268F|uc009xgy.3,p.S268F|uc021pmb.1,p.S268F|ENST00000366487,p.S268F	protein_coding	uc021pmb.1	nonsynonymous SNV	exon1	c.C803T	p.S268F	IIFMYLQPAKSTSHEQGKFIALFYT	IIFMYLQPAKSTFHEQGKFIALFYT	1.0	10.0	unscreened	-	4000_1:247695011-247695011 G>A_IIFMYLQPAKSTFHEQGKFIALFYT
16:85139018-85139018 C>T	0.0	4000	MELANOMA	-	-	-	-	FAM92B	uc021tma.1,p.R151K|NM_198491,p.R151K|ENST00000539556,p.R151K	protein_coding	uc021tma.1	nonsynonymous SNV	exon6	c.G452A	p.R151K	QQMISQAETRVQRAAVDSSRTTLQL	QQMISQAETRVQKAAVDSSRTTLQL	1.0	7.0	unscreened	-	4000_16:85139018-85139018 C>T_QQMISQAETRVQKAAVDSSRTTLQL
16:84449100-84449100 G>A	0.0	4000	MELANOMA	-	-	-	-	ATP2C2	NM_001286527,p.G176E|NM_014861,p.G176E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	NM_014861	nonsynonymous SNV	exon7	c.G527A	p.G176E	KLVPPECNCLREGKLQHLLARELVP	KLVPPECNCLREEKLQHLLARELVP	2.0	4.0	unscreened	-	4000_16:84449100-84449100 G>A_KLVPPECNCLREEKLQHLLARELVP
16:84449100-84449100 G>A	0.0	4000	MELANOMA	-	-	-	-	ATP2C2	uc002fhy.3,p.G193E|ENST00000416219,p.G176E|uc002fhx.3,p.G176E|ENST00000262429,p.G176E|uc010chj.3,p.G176E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc010chj.3	nonsynonymous SNV	exon7	c.G527A	p.G176E	KMVPPECNCLREGKLQHLLARELVP	KMVPPECNCLREEKLQHLLARELVP	2.0	4.0	unscreened	-	4000_16:84449100-84449100 G>A_KMVPPECNCLREEKLQHLLARELVP
5:31317894-31317894 G>A	0.0	4000	MELANOMA	-	-	-	-	CDH6	ENST00000265071,p.G582E|uc003jhd.2,p.G582E|ENST00000514738,p.G527E|NM_004932,p.G582E|uc003jhe.2,p.G582E	retained_intron, protein_coding	uc003jhe.2	nonsynonymous SNV	exon11	c.G1745A	p.G582E	ISDNDYPVQSSTGTVTVRVCACDHH	ISDNDYPVQSSTETVTVRVCACDHH	4.0	5.0	unscreened	-	4000_5:31317894-31317894 G>A_ISDNDYPVQSSTETVTVRVCACDHH
X:123654509-123654509 C>T	0.0	4000	MELANOMA	-	-	-	-	TENM1	NM_001163278,p.M1053I|uc010nqy.3,p.M1053I|NM_014253,p.M1053I|uc011muj.2,p.M1052I|ENST00000371130,p.M1053I|NM_001163279,p.M1052I|ENST00000422452,p.M1053I|uc004euj.3,p.M1053I	protein_coding, processed_transcript	uc011muj.2	nonsynonymous SNV	exon18	c.G3156A	p.M1052I	RILLTHSTIPVGMIKVHLTVAVEGR	RILLTHSTIPVGIIKVHLTVAVEGR	3.0	9.0	unscreened	-	4000_X:123654509-123654509 C>T_RILLTHSTIPVGIIKVHLTVAVEGR
12:18515742-18515742 A>T	0.0	4000	MELANOMA	-	-	-	-	PIK3C2G	NM_001288774,p.K335M|uc010sic.2,p.K335M|ENST00000538779,p.K557M|NM_001288772,p.K557M|uc010sib.2,p.K557M|ENST00000535651,p.K557M	protein_coding, processed_transcript, nonsense_mediated_decay	uc010sic.2	nonsynonymous SNV	exon11	c.A1004T	p.K335M	AFSFTCWLTYAGKKLCQVRNYRNIP	AFSFTCWLTYAGMKLCQVRNYRNIP	1.0	8.0	unscreened	-	4000_12:18515742-18515742 A>T_AFSFTCWLTYAGMKLCQVRNYRNIP
17:37901774-37901774 G>A	0.0	4000	MELANOMA	-	-	-	-	GRB7	ENST00000394204,p.E398K|NM_001242443,p.E398K|uc002hss.3,p.E398K|NM_001030002,p.E398K|ENST00000309185,p.E398K|ENST00000309156,p.E398K|uc002hsr.3,p.E398K|uc021twu.1,p.E421K|ENST00000445327,p.E421K|ENST00000394211,p.E398K|NM_005310,p.E398K|NM_001242442,p.E421K|ENST00000394209,p.E398K|uc010cwc.3,p.E398K|uc002hst.3,p.E398K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021twu.1	nonsynonymous SNV	exon11	c.G1261A	p.E421K	ENPREALSVALEEAQAWRKKTNHRL	ENPREALSVALEKAQAWRKKTNHRL	3.0	6.0	unscreened	-	4000_17:37901774-37901774 G>A_ENPREALSVALEKAQAWRKKTNHRL
11:17631661-17631661 C>T	0.0	4000	MELANOMA	-	-	-	-	OTOG	ENST00000399391,p.S1617F|ENST00000342528,p.S623F|NM_001292063,p.S1605F|uc031pzc.1,p.S1617F|ENST00000399397,p.S1544F|NM_001277269,p.S1617F|uc001mnh.1,p.S623F	retained_intron, protein_coding, processed_transcript	uc031pzc.1	nonsynonymous SNV	exon35	c.C4850T	p.S1617F	VIFAGSPNITVSSRSPPAPRFPLMT	VIFAGSPNITVSFRSPPAPRFPLMT	1.0	9.0	unscreened	-	4000_11:17631661-17631661 C>T_VIFAGSPNITVSFRSPPAPRFPLMT
17:54554859-54554859 C>T	0.0	4000	MELANOMA	-	-	-	-	ANKFN1	uc002iun.1,p.S598F|NM_153228,p.S598F|ENST00000566473,p.S598F|ENST00000318698,p.S598F	retained_intron, protein_coding, processed_transcript	uc002iun.1	nonsynonymous SNV	exon15	c.C1793T	p.S598F	LDILLITIQDILSYHKRSHQRLFPG	LDILLITIQDILFYHKRSHQRLFPG	1.0	8.0	unscreened	-	4000_17:54554859-54554859 C>T_LDILLITIQDILFYHKRSHQRLFPG
2:29455305-29455305 C>T	0.0	4000	MELANOMA	-	-	-	1	ALK	NM_004304,p.G833R|uc002rmy.3,p.G833R|ENST00000389048,p.G833R	protein_coding, processed_transcript	uc002rmy.3	nonsynonymous SNV	exon15	c.G2497A	p.G833R	GGGATYVFKMKDGVPVPLIIAAGGG	GGGATYVFKMKDRVPVPLIIAAGGG	2.0	1.0	unscreened	-	4000_2:29455305-29455305 C>T_GGGATYVFKMKDRVPVPLIIAAGGG
1:155018384-155018384 G>A	0.0	4000	MELANOMA	-	-	-	-	DCST1	ENST00000525273,p.M421I|ENST00000423025,p.M371I|ENST00000368419,p.M396I|ENST00000295542,p.M396I|uc010pes.2,p.M371I|uc001fgn.2,p.M396I|NM_152494,p.M396I|uc010per.2,p.M421I|ENST00000392480,p.M396I|NM_001143687,p.M371I	retained_intron, protein_coding, nonsense_mediated_decay	uc010pes.2	nonsynonymous SNV	exon10	c.G1113A	p.M371I	TFLLVLHASFSYMDSYNHDIRFDNI	TFLLVLHASFSYIDSYNHDIRFDNI	1.0	3.0	unscreened	-	4000_1:155018384-155018384 G>A_TFLLVLHASFSYIDSYNHDIRFDNI
2:179612065-179612065 C>T	0.0	4000	MELANOMA	-	-	-	-	TTN	ENST00000360870,p.G5021E|NM_133379,p.G5021E|uc002unb.3,p.G5021E	retained_intron, protein_coding	uc002unb.3	nonsynonymous SNV	exon46	c.G15062A	p.G5021E	PSDITKQSSIHSGGETVERYSTPLG	PSDITKQSSIHSEGETVERYSTPLG	6.0	6.0	unscreened	-	4000_2:179612065-179612065 C>T_PSDITKQSSIHSEGETVERYSTPLG
1:158747113-158747113 G>A	0.0	4000	MELANOMA	-	-	-	-	OR6N2	ENST00000339258,p.H105Y|uc010pir.2,p.H105Y|NM_001005278,p.H105Y	protein_coding	uc010pir.2	nonsynonymous SNV	exon1	c.C313T	p.H105Y	SFAGCLLQTYFFHSLGASECYLLTA	SFAGCLLQTYFFYSLGASECYLLTA	1.0	8.0	unscreened	-	4000_1:158747113-158747113 G>A_SFAGCLLQTYFFYSLGASECYLLTA
3:57368853-57368853 C>T	0.0	4000	MELANOMA	-	-	-	-	DNAH12	uc010hnc.2,p.E29K|ENST00000466540,p.E87K|ENST00000351747,p.E2396K|ENST00000344804,p.E29K|uc003dit.2,p.E2396K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hnc.2	nonsynonymous SNV	exon2	c.G85A	p.E29K	PDPTWLQDKSWEEICRASEFPAFRG	PDPTWLQDKSWEKICRASEFPAFRG	3.0	8.0	unscreened	-	4000_3:57368853-57368853 C>T_PDPTWLQDKSWEKICRASEFPAFRG
7:129929427-129929427 G>T	0.0	4000	MELANOMA	-	-	-	-	CPA2	uc003vpq.3,p.W367L|NM_001869,p.W367L|ENST00000222481,p.W367L	retained_intron, protein_coding, nonsense_mediated_decay	uc003vpq.3	nonsynonymous SNV	exon11	c.G1100T	p.W367L	SVIYQASGGSIDWSYDYGIKYSFAF	SVIYQASGGSIDLSYDYGIKYSFAF	2.0	3.0	unscreened	-	4000_7:129929427-129929427 G>T_SVIYQASGGSIDLSYDYGIKYSFAF
7:144096151-144096151 G>A	0.0	4000	MELANOMA	-	-	-	-	NOBOX	ENST00000467773,p.P454L|uc022aoj.1,p.P454L|ENST00000483238,p.P422L|NM_001080413,p.P454L|ENST00000223140,p.P337L	protein_coding	uc022aoj.1	nonsynonymous SNV	exon8	c.C1361T	p.P454L	LFSPPPVRRADLPFPLGPVHTPQLM	LFSPPPVRRADLLFPLGPVHTPQLM	1.0	1.0	unscreened	-	4000_7:144096151-144096151 G>A_LFSPPPVRRADLLFPLGPVHTPQLM
18:44543314-44543314 C>T	0.0	4000	MELANOMA	-	-	-	-	TCEB3CL,TCEB3CL2	NM_001100817,p.G353D	protein_coding	NM_001100817	nonsynonymous SNV	exon1	c.G1058A	p.G353D	CLRVPRNNPDALGDVEGVPYSVLEP	CLRVPRNNPDALDDVEGVPYSVLEP	1.0	1.0	unscreened	-	4000_18:44543314-44543314 C>T_CLRVPRNNPDALDDVEGVPYSVLEP
1:12267042-12267042 C>T	0.0	4000	MELANOMA	-	-	-	-	TNFRSF1B	NM_001066,p.L451F|ENST00000376259,p.L451F|uc001atu.3,p.L256F|uc001att.3,p.L451F	protein_coding, processed_transcript	uc001atu.3	nonsynonymous SNV	exon9	c.C766T	p.L256F	TLLGSTEEKPLPLGVPDAGMKPS	TLLGSTEEKPLPFGVPDAGMKPS	9.0	4.0	unscreened	-	4000_1:12267042-12267042 C>T_TLLGSTEEKPLPFGVPDAGMKPS
1:232943114-232943114 T>G	0.0	4000	MELANOMA	-	-	-	-	MAP10	NM_019090,p.V782G|ENST00000418460,p.V782G|uc001hvh.2,p.V782G	protein_coding	uc001hvh.2	nonsynonymous SNV	exon1	c.T2345G	p.V782G	ERLTPTNILGGNVEMKIQSPCVFQQ	ERLTPTNILGGNGEMKIQSPCVFQQ	4.0	1.0	unscreened	-	4000_1:232943114-232943114 T>G_ERLTPTNILGGNGEMKIQSPCVFQQ
8:113960031-113960031 C>T	0.0	4000	MELANOMA	-	-	-	2	CSMD3	ENST00000343508,p.G459E|uc003ynu.3,p.G499E|uc003ynt.3,p.G459E|uc011lhx.2,p.G395E|NM_052900,p.G395E|NM_198123,p.G499E|ENST00000352409,p.G499E|NM_198124,p.G459E|ENST00000455883,p.G395E|ENST00000297405,p.G499E	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon8	c.G1184A	p.G395E	PDPGEPENGKRIGSDFSLGSTVQFS	PDPGEPENGKRIESDFSLGSTVQFS	1.0	1.0	unscreened	-	4000_8:113960031-113960031 C>T_PDPGEPENGKRIESDFSLGSTVQFS
8:145665548-145665548 G>A	1.0	4000	MELANOMA	-	-	-	-	TONSL	NM_013432,p.P446S|ENST00000409379,p.P446S|uc011llg.2,p.P446S	retained_intron, protein_coding	uc011llg.2	nonsynonymous SNV	exon11	c.C1336T	p.P446S	LQHLHTVQLRLQPQEAPETETRLRE	LQHLHTVQLRLQSQEAPETETRLRE	6.0	10.0	-	-	4000_8:145665548-145665548 G>A_LQHLHTVQLRLQSQEAPETETRLRE
5:140474589-140474589 G>A	1.0	4000	MELANOMA	-	-	-	-	PCDHB2	NM_018936,p.G72E|uc003lil.3,p.G72E|ENST00000194155,p.G72E	protein_coding	uc003lil.3	nonsynonymous SNV	exon1	c.G215A	p.G72E	ELAVRGARVVSKGKKMHLQFDRQTG	ELAVRGARVVSKEKKMHLQFDRQTG	4.0	10.0	-	-	4000_5:140474589-140474589 G>A_ELAVRGARVVSKEKKMHLQFDRQTG
1:207314502-207314502 C>T	0.0	4000	MELANOMA	-	-	-	-	C4BPA	NM_000715,p.S442L|ENST00000367070,p.S442L|uc001hfo.3,p.S442L	protein_coding, nonsense_mediated_decay	uc001hfo.3	nonsynonymous SNV	exon10	c.C1325T	p.S442L	PKIAHGHYKQSSSYSFFKEEIIYEC	PKIAHGHYKQSSLYSFFKEEIIYEC	3.0	9.0	unscreened	-	4000_1:207314502-207314502 C>T_PKIAHGHYKQSSLYSFFKEEIIYEC
1:181767531-181767531 C>T	0.0	4000	MELANOMA	-	-	-	-	CACNA1E	NM_001205293,p.P2168L|ENST00000367573,p.P2168L|ENST00000358338,p.P2057L|uc009wxs.3,p.P2106L|ENST00000526775,p.P2106L|ENST00000357570,p.P2119L|uc009wxt.3,p.P2168L|NM_001205294,p.P2106L|ENST00000367570,p.P2125L|ENST00000360108,p.P2149L|NM_000721,p.P2125L|ENST00000367567,p.P1732L|uc001gow.3,p.P2125L	retained_intron, protein_coding	uc009wxt.3	nonsynonymous SNV	exon48	c.C6503T	p.P2168L	RRQLPPVPPKPRPLLSYSSLIRHAG	RRQLPPVPPKPRLLLSYSSLIRHAG	2.0	1.0	unscreened	-	4000_1:181767531-181767531 C>T_RRQLPPVPPKPRLLLSYSSLIRHAG
6:132031845-132031845 C>T	0.0	4000	MELANOMA	-	-	-	-	CTAGE9	NM_001145659,p.G105S|ENST00000314099,p.G105S|uc011ece.2,p.G105S	protein_coding	uc011ece.2	nonsynonymous SNV	exon1	c.G313A	p.G105S	LEKFSLIQKEYEGYEVESSLEDASF	LEKFSLIQKEYESYEVESSLEDASF	1.0	9.0	unscreened	-	4000_6:132031845-132031845 C>T_LEKFSLIQKEYESYEVESSLEDASF
9:117666368-117666368 G>A	0.0	4000	MELANOMA	-	-	-	-	TNFSF8	NM_001244,p.T183M|ENST00000223795,p.T183M|uc004bji.2,p.T183M	protein_coding, processed_transcript	uc004bji.2	nonsynonymous SNV	exon4	c.C548T	p.T183M	QALVTVCESGMQTKHVYQNLSQFLL	QALVTVCESGMQMKHVYQNLSQFLL	6.0	1.0	unscreened	-	4000_9:117666368-117666368 G>A_QALVTVCESGMQMKHVYQNLSQFLL
16:1257083-1257083 G>A	0.0	4000	MELANOMA	-	-	-	-	CACNA1H	NM_021098,p.D958N|ENST00000565831,p.D958N|uc002cks.3,p.D958N|uc002ckt.3,p.D958N|ENST00000358590,p.D958N|ENST00000348261,p.D958N|NM_001005407,p.D958N	retained_intron, protein_coding	uc002ckt.3	nonsynonymous SNV	exon13	c.G2872A	p.D958N	DTGDTVPDRKNFDSLLWAIVTVFQI	DTGDTVPDRKNFNSLLWAIVTVFQI	3.0	9.0	unscreened	-	4000_16:1257083-1257083 G>A_DTGDTVPDRKNFNSLLWAIVTVFQI
5:24537611-24537611 C>T	0.0	4000	MELANOMA	-	-	-	2	CDH10	ENST00000510477,p.R135K|uc003jgr.2,p.R135K|NM_006727,p.R135K|ENST00000264463,p.R135K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jgr.2	nonsynonymous SNV	exon3	c.G404A	p.R135K	AFYTLRAQAINRRTLRPVEPESEFV	AFYTLRAQAINRKTLRPVEPESEFV	3.0	8.0	unscreened	-	4000_5:24537611-24537611 C>T_AFYTLRAQAINRKTLRPVEPESEFV
3:148601558-148601558 C>T	0.0	4000	MELANOMA	-	-	-	-	CPA3	NM_001870,p.P313S|uc003ewm.3,p.P313S|ENST00000296046,p.P313S	retained_intron, protein_coding	uc003ewm.3	nonsynonymous SNV	exon9	c.C937T	p.P313S	ITFHSYSQMLLFPYGYTSKLPPNHE	ITFHSYSQMLLFSYGYTSKLPPNHE	2.0	3.0	unscreened	-	4000_3:148601558-148601558 C>T_ITFHSYSQMLLFSYGYTSKLPPNHE
2:185800571-185800571 G>A	1.0	4000	MELANOMA	-	-	-	-	ZNF804A	ENST00000302277,p.E150K|NM_194250,p.E150K|uc002uph.3,p.E150K	protein_coding	uc002uph.3	nonsynonymous SNV	exon4	c.G448A	p.E150K	KSTTVTVRENCNEISQRVVVDSVNN	KSTTVTVRENCNKISQRVVVDSVNN	4.0	1.0	-	-	4000_2:185800571-185800571 G>A_KSTTVTVRENCNKISQRVVVDSVNN
10:81318696-81318696 C>T	0.0	4000	MELANOMA	-	-	-	-	SFTPA2	uc001kan.4,p.G80S|ENST00000492049,p.G80S|ENST00000417041,p.G80S|NM_001098668,p.G80S|ENST00000372325,p.G80S|uc001kal.4,p.G80S|ENST00000372327,p.G80S	protein_coding, processed_transcript	uc001kan.4	nonsynonymous SNV	exon3	c.G238A	p.G80S	CPPGNNGLPGAPGVPGERGEKGEAG	CPPGNNGLPGAPSVPGERGEKGEAG	10.0	8.0	unscreened	-	4000_10:81318696-81318696 C>T_CPPGNNGLPGAPSVPGERGEKGEAG
7:150034675-150034675 C>T	0.0	4000	MELANOMA	-	-	-	-	LRRC61	ENST00000323078,p.A242V|ENST00000359623,p.A242V|uc003wgw.3,p.A242V|NM_001142928,p.A242V|uc003wgx.3,p.A242V|NM_023942,p.A242V|uc003wgz.4,p.A242V|ENST00000493307,p.A242V	protein_coding, processed_transcript	uc003wgz.4	nonsynonymous SNV	exon1	c.C725T	p.A242V	CWDLDRQASDSLAQAEQVLSSAGPT	CWDLDRQASDSLVQAEQVLSSAGPT	8.0	2.0	unscreened	-	4000_7:150034675-150034675 C>T_CWDLDRQASDSLVQAEQVLSSAGPT
1:110149038-110149038 C>T	1.0	4000	MELANOMA	-	-	ID=COSM200981;OCCURENCE=2(skin),1(large_intestine)	-	GNAT2	uc001dya.3,p.R161Q|ENST00000351050,p.R161Q|NM_005272,p.R161Q	protein_coding	uc001dya.3	nonsynonymous SNV	exon5	c.G482A	p.R161Q	NDSASYYLNQLERITDPEYLPSEQD	NDSASYYLNQLEQITDPEYLPSEQD	3.0	8.0	-	-	4000_1:110149038-110149038 C>T_NDSASYYLNQLEQITDPEYLPSEQD
5:13830304-13830304 G>A	0.0	4000	MELANOMA	-	-	-	-	DNAH5	ENST00000265104,p.S2027F|NM_001369,p.S2027F|uc003jfd.2,p.S2027F	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon37	c.C6080T	p.S2027F	LGRIFKGLAQSGSWGCFDEFNRIDL	LGRIFKGLAQSGFWGCFDEFNRIDL	2.0	8.0	unscreened	-	4000_5:13830304-13830304 G>A_LGRIFKGLAQSGFWGCFDEFNRIDL
10:116879977-116879977 G>A	0.0	4000	MELANOMA	-	-	-	-	ATRNL1	uc001lcf.4,p.D108N|NM_207303,p.D108N|ENST00000527407,p.D108N|uc001lcg.3,p.D108N|NM_001276282,p.D108N|ENST00000355044,p.D108N	protein_coding, processed_transcript, nonsense_mediated_decay	uc001lcg.3	nonsynonymous SNV	exon2	c.G322A	p.D108N	RFKLTEPSGYLTDGPINYKYKTKCT	RFKLTEPSGYLTNGPINYKYKTKCT	5.0	4.0	unscreened	-	4000_10:116879977-116879977 G>A_RFKLTEPSGYLTNGPINYKYKTKCT
10:116879977-116879977 G>A	0.0	4000	MELANOMA	-	-	-	-	ATRNL1	ENST00000526946,p.D41N	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000526946	nonsynonymous SNV	exon2	c.G121A	p.D41N	GRRLTEPSGYLTDGPINYKYKTKCT	GRRLTEPSGYLTNGPINYKYKTKCT	5.0	4.0	unscreened	-	4000_10:116879977-116879977 G>A_GRRLTEPSGYLTNGPINYKYKTKCT
18:72223675-72223675 G>A	0.0	4000	MELANOMA	-	-	-	-	CNDP1	uc002llq.3,p.D43N|ENST00000358821,p.D43N|NM_032649,p.D43N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002llq.3	nonsynonymous SNV	exon2	c.G127A	p.D43N	PPALLEKVFQYIDLHQDEFVQTLKE	PPALLEKVFQYINLHQDEFVQTLKE	3.0	3.0	unscreened	-	4000_18:72223675-72223675 G>A_PPALLEKVFQYINLHQDEFVQTLKE
19:53552929-53552929 G>A	0.0	4000	MELANOMA	-	-	-	-	ERVV-2	uc031rmt.1,p.G142E|NM_001191055,p.G142E|uc021uzd.1,p.G142E|ENST00000601417,p.G142E	protein_coding	uc031rmt.1	nonsynonymous SNV	exon1	c.G425A	p.G142E	EGHCDRKNTSEEGFPSPTIHPMSFS	EGHCDRKNTSEEEFPSPTIHPMSFS	1.0	9.0	unscreened	-	4000_19:53552929-53552929 G>A_EGHCDRKNTSEEEFPSPTIHPMSFS
2:219294354-219294354 G>A	0.0	4000	MELANOMA	-	-	-	-	VIL1	NM_007127,p.E269K|uc002vic.1,p.E269K|uc002vib.3,p.E269K|ENST00000440053,p.E269K|uc002via.3,p.E269K|ENST00000248444,p.E269K	protein_coding	uc002vic.1	nonsynonymous SNV	exon7	c.G805A	p.E269K	HVSDSEGNLVVREVATRPLTQDLLS	HVSDSEGNLVVRKVATRPLTQDLLS	2.0	1.0	unscreened	-	4000_2:219294354-219294354 G>A_HVSDSEGNLVVRKVATRPLTQDLLS
5:140763310-140763310 C>T	0.0	4000	MELANOMA	-	-	-	-	PCDHGA7	uc003lka.2,p.R282W|ENST00000518325,p.R282W|NM_018920,p.R282W|NM_032087,p.R282W|uc003ljz.1,p.R282W	protein_coding	uc003lka.2	nonsynonymous SNV	exon1	c.C844T	p.R282W	DEGVNGEVTYSFRKITPKLPKMFHL	DEGVNGEVTYSFWKITPKLPKMFHL	3.0	1.0	unscreened	-	4000_5:140763310-140763310 C>T_DEGVNGEVTYSFWKITPKLPKMFHL
12:97133832-97133832 G>A	0.0	4000	MELANOMA	-	-	-	-	CDK17,NEDD1	ENST00000524981,p.G806E|uc021rcc.1,p.G780E	-	uc021rcc.1	nonsynonymous SNV	exon18	c.G2339A	p.G780E	VVQDDTENPVSPGTSVTENKDDSEF	VVQDDTENPVSPETSVTENKDDSEF	1.0	10.0	unscreened	-	4000_12:97133832-97133832 G>A_VVQDDTENPVSPETSVTENKDDSEF
9:113209269-113209269 G>A	0.0	4000	MELANOMA	-	-	-	-	SVEP1	ENST00000401783,p.P1391L|ENST00000374469,p.P1368L|ENST00000302728,p.P1391L|uc010mua.1,p.P1391L|NM_153366,p.P1391L|uc010mtz.3,p.P1391L	protein_coding, processed_transcript	uc010mua.1	nonsynonymous SNV	exon25	c.C4172T	p.P1391L	HCELNINECQSNPCRNQATCVDELN	HCELNINECQSNLCRNQATCVDELN	4.0	10.0	unscreened	-	4000_9:113209269-113209269 G>A_HCELNINECQSNLCRNQATCVDELN
2:98994253-98994253 G>A	0.0	4000	MELANOMA	-	-	-	-	CNGA3	uc010fij.3,p.G18R|ENST00000409937,p.G18R	retained_intron, protein_coding	uc010fij.3	nonsynonymous SNV	exon2	c.G52A	p.G18R	LADSGQGSFTGQGIARFGRIQKKSQ	LADSGQGSFTGQRIARFGRIQKKSQ	1.0	10.0	unscreened	-	4000_2:98994253-98994253 G>A_LADSGQGSFTGQRIARFGRIQKKSQ
20:9498777-9498777 C>T	0.0	4000	MELANOMA	-	-	-	-	LAMP5	NM_001199897,p.S145L|uc002wni.2,p.S189L|uc010zrc.2,p.S145L|NM_012261,p.S189L|ENST00000246070,p.S189L|ENST00000427562,p.S145L	protein_coding	uc010zrc.2	nonsynonymous SNV	exon4	c.C434T	p.S145L	GKSYECQAQQTISLASSDPQKTVTM	GKSYECQAQQTILLASSDPQKTVTM	3.0	5.0	unscreened	-	4000_20:9498777-9498777 C>T_GKSYECQAQQTILLASSDPQKTVTM
10:45478087-45478087 T>C	1.0	4000	MELANOMA	-	-	-	-	RASSF4	ENST00000428466,p.M79T	retained_intron, protein_coding, processed_transcript	ENST00000428466	nonsynonymous SNV	exon3	c.T236C	p.M79T	DREQVHLPSTSWMPRRPSCPLHLAG	DREQVHLPSTSWTPRRPSCPLHLAG	9.0	10.0	unscreened	-	4000_10:45478087-45478087 T>C_DREQVHLPSTSWTPRRPSCPLHLAG
3:193176910-193176910 C>T	0.0	4000	MELANOMA	-	-	-	-	ATP13A4	NM_032279,p.G545E|uc003ftd.3,p.G545E|ENST00000342695,p.G545E|uc011bsr.1,p.G16E|ENST00000295548,p.G545E|uc003fte.1,p.G545E|uc003ftf.4,p.G251E|ENST00000392443,p.G526E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bsr.1	nonsynonymous SNV	exon14	c.G47A	p.G16E	CHSLILLDGTIQGDPLDLKMFEATT	CHSLILLDGTIQEDPLDLKMFEATT	5.0	1.0	unscreened	-	4000_3:193176910-193176910 C>T_CHSLILLDGTIQEDPLDLKMFEATT
4:121958412-121958412 C>T	0.0	4000	MELANOMA	-	-	-	-	NDNF	NM_024574,p.M238I|ENST00000379692,p.M238I|uc003idq.1,p.M238I	protein_coding, processed_transcript	uc003idq.1	nonsynonymous SNV	exon4	c.G714A	p.M238I	AVEAKLSADDAFMMAPKPGLDFSPF	AVEAKLSADDAFIMAPKPGLDFSPF	5.0	7.0	unscreened	-	4000_4:121958412-121958412 C>T_AVEAKLSADDAFIMAPKPGLDFSPF
11:56757038-56757038 C>T	0.0	4000	MELANOMA	-	-	-	-	OR5AK2	ENST00000326855,p.S217F|NM_001005323,p.S217F|uc010rjp.2,p.S217F	protein_coding	uc010rjp.2	nonsynonymous SNV	exon1	c.C650T	p.S217F	SNLIFTGLVVIFSYIYIMATILKMS	SNLIFTGLVVIFFYIYIMATILKMS	1.0	7.0	unscreened	-	4000_11:56757038-56757038 C>T_SNLIFTGLVVIFFYIYIMATILKMS
4:56473506-56473506 G>A	0.0	4000	MELANOMA	-	-	-	-	NMU	ENST00000511469,p.H91Y|NM_001292046,p.H107Y|uc003hbc.3,p.H107Y|ENST00000507338,p.H107Y|NM_001292045,p.H91Y|ENST00000264218,p.H107Y|NM_006681,p.H107Y	protein_coding, processed_transcript	uc003hbc.3	nonsynonymous SNV	exon6	c.C319T	p.H107Y	QDEKDNTKRFLFHYSKTQKLGKSNV	QDEKDNTKRFLFYYSKTQKLGKSNV	1.0	5.0	unscreened	-	4000_4:56473506-56473506 G>A_QDEKDNTKRFLFYYSKTQKLGKSNV
17:42992749-42992749 G>A	0.0	4000	MELANOMA	-	-	-	-	GFAP	NM_001242376,p.R36C|uc021tyh.1,p.R36C|ENST00000588316,p.R36C|uc002ihq.3,p.R36C|ENST00000588037,p.R36C|ENST00000586793,p.R36C|ENST00000585728,p.R36C|ENST00000435360,p.R36C|NM_001131019,p.R36C|uc002ihr.3,p.R36C|ENST00000376990,p.R36C|ENST00000253408,p.R36C|ENST00000592320,p.R36C|NM_002055,p.R36C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tyh.1	nonsynonymous SNV	exon1	c.C106T	p.R36C	GLAPGRRLGPGTRLSLARMPPPLPT	GLAPGRRLGPGTCLSLARMPPPLPT	1.0	7.0	unscreened	-	4000_17:42992749-42992749 G>A_GLAPGRRLGPGTCLSLARMPPPLPT
5:168098476-168098476 G>A	0.0	4000	MELANOMA	-	-	-	-	SLIT3	ENST00000332966,p.S1292F|NM_001271946,p.S1292F|ENST00000404867,p.S1285F|NM_003062,p.S1285F|ENST00000519560,p.S1285F|uc003mab.4,p.S1285F|uc010jjg.4,p.S1292F	retained_intron, protein_coding, processed_transcript	uc010jjg.4	nonsynonymous SNV	exon34	c.C3875T	p.S1292F	INSPLYLGGIPTSTGLSALRQGTDR	INSPLYLGGIPTFTGLSALRQGTDR	4.0	4.0	unscreened	-	4000_5:168098476-168098476 G>A_INSPLYLGGIPTFTGLSALRQGTDR
18:28916383-28916383 C>T	0.0	4000	MELANOMA	-	-	-	-	DSG1	uc002kwp.3,p.H358Y|ENST00000257192,p.H358Y|NM_001942,p.H358Y	protein_coding	uc002kwp.3	nonsynonymous SNV	exon9	c.C1072T	p.H358Y	QLSIGVRNKAEFHHSIMSQYKLKAS	QLSIGVRNKAEFYHSIMSQYKLKAS	1.0	7.0	unscreened	-	4000_18:28916383-28916383 C>T_QLSIGVRNKAEFYHSIMSQYKLKAS
9:24544976-24544976 C>T	0.0	4000	MELANOMA	-	-	-	-	IZUMO3	NM_001271706,p.E129K|ENST00000418122,p.E48K|uc031tdg.1,p.E129K|ENST00000604921,p.E129K	protein_coding	uc031tdg.1	nonsynonymous SNV	exon3	c.G385A	p.E129K	ESKLKELLKNFSEIVVVEGPILDCW	ESKLKELLKNFSKIVVVEGPILDCW	1.0	10.0	unscreened	-	4000_9:24544976-24544976 C>T_ESKLKELLKNFSKIVVVEGPILDCW
20:56140585-56140585 G>A	0.0	4000	MELANOMA	-	-	-	-	PCK1	uc010zzm.2,p.E215K|NM_002591,p.E532K|uc002xyn.4,p.E532K|ENST00000319441,p.E532K|ENST00000543666,p.E215K	retained_intron, protein_coding	uc010zzm.2	nonsynonymous SNV	exon6	c.G643A	p.E215K	DKEGKFLWPGFGENSRVLEWMFNRI	DKEGKFLWPGFGKNSRVLEWMFNRI	1.0	5.0	unscreened	-	4000_20:56140585-56140585 G>A_DKEGKFLWPGFGKNSRVLEWMFNRI
17:63698-63698 C>T	0.0	4000	MELANOMA	-	-	-	-	RPH3AL	NM_006987,p.G298E|NM_001190412,p.G269E|ENST00000331302,p.G298E|NM_001190411,p.G298E|ENST00000536489,p.G269E|NM_001190413,p.G269E|ENST00000323434,p.G269E	retained_intron, protein_coding, processed_transcript	NM_006987	nonsynonymous SNV	exon10	c.G893A	p.G298E	GLTRRAPVKDTPGRAPAADAAPAGP	GLTRRAPVKDTPERAPAADAAPAGP	5.0	9.0	unscreened	-	4000_17:63698-63698 C>T_GLTRRAPVKDTPERAPAADAAPAGP
1:11766668-11766668 C>T	0.0	4000	MELANOMA	-	-	-	-	DRAXIN	ENST00000294485,p.P118L|NM_198545,p.P118L|uc001asr.1,p.P118L	protein_coding	uc001asr.1	nonsynonymous SNV	exon2	c.C353T	p.P118L	LQDKDLLLGLALPYPEKENRPPGWE	LQDKDLLLGLALLYPEKENRPPGWE	1.0	8.0	unscreened	-	4000_1:11766668-11766668 C>T_LQDKDLLLGLALLYPEKENRPPGWE
12:5154610-5154610 G>A	0.0	4000	MELANOMA	-	-	-	-	KCNA5	uc001qni.4,p.E433K|ENST00000252321,p.E433K|NM_002234,p.E433K	protein_coding	uc001qni.4	nonsynonymous SNV	exon1	c.G1297A	p.E433K	QILGKTLQASMRELGLLIFFLFIGV	QILGKTLQASMRKLGLLIFFLFIGV	1.0	5.0	unscreened	-	4000_12:5154610-5154610 G>A_QILGKTLQASMRKLGLLIFFLFIGV
15:57836737-57836737 G>A	0.0	4000	MELANOMA	-	-	-	-	CGNL1	uc010bfw.3,p.V1148I|NM_032866,p.V1148I|NM_001252335,p.V1148I|ENST00000281282,p.V1148I|uc002aeg.3,p.V1148I	protein_coding, processed_transcript	uc010bfw.3	nonsynonymous SNV	exon17	c.G3442A	p.V1148I	LEGSYRSSKEGLVVQMEARIAELED	LEGSYRSSKEGLIVQMEARIAELED	4.0	4.0	unscreened	-	4000_15:57836737-57836737 G>A_LEGSYRSSKEGLIVQMEARIAELED
X:140995417-140995417 C>T	0.0	4000	MELANOMA	-	-	-	-	MAGEC1	uc022cfi.1,p.P402S|uc004fbt.3,p.P743S|NM_005462,p.P743S|ENST00000285879,p.P743S	protein_coding	uc022cfi.1	nonsynonymous SNV	exon1	c.C1204T	p.P402S	PQGEDFQSSLQSPVSICSSSTSLSL	PQGEDFQSSLQSSVSICSSSTSLSL	4.0	9.0	unscreened	-	4000_X:140995417-140995417 C>T_PQGEDFQSSLQSSVSICSSSTSLSL
11:7064674-7064674 G>A	0.0	4000	MELANOMA	-	-	-	-	NLRP14	uc001mfb.1,p.E473K|NM_176822,p.E473K|ENST00000299481,p.E473K	protein_coding	uc001mfb.1	nonsynonymous SNV	exon4	c.G1417A	p.E473K	MDSNIIQKDAEYENCYVFTHLHVQE	MDSNIIQKDAEYKNCYVFTHLHVQE	2.0	5.0	unscreened	-	4000_11:7064674-7064674 G>A_MDSNIIQKDAEYKNCYVFTHLHVQE
16:20999046-20999046 C>T	0.0	4000	MELANOMA	-	-	-	-	DNAH3	NM_017539,p.G2284E|ENST00000261383,p.G2284E|uc010vbe.2,p.G2284E	retained_intron, protein_coding, processed_transcript	uc010vbe.2	nonsynonymous SNV	exon46	c.G6851A	p.G2284E	VFNLRDFSRVIQGVLLCPHTHLQDV	VFNLRDFSRVIQEVLLCPHTHLQDV	1.0	9.0	unscreened	-	4000_16:20999046-20999046 C>T_VFNLRDFSRVIQEVLLCPHTHLQDV
X:136113047-136113047 G>A	0.0	4000	MELANOMA	-	-	-	-	GPR101	uc011mwh.2,p.R263C|NM_054021,p.R263C|ENST00000298110,p.R263C	protein_coding	uc011mwh.2	nonsynonymous SNV	exon1	c.C787T	p.R263C	EKKEEFQDESEFRRQHEGEVKAKEG	EKKEEFQDESEFCRQHEGEVKAKEG	1.0	10.0	unscreened	-	4000_X:136113047-136113047 G>A_EKKEEFQDESEFCRQHEGEVKAKEG
9:107361664-107361664 C>T	0.0	4000	MELANOMA	-	-	ID=COSM107962;OCCURENCE=1(skin)	-	OR13C5	NM_001004482,p.E11K|ENST00000374779,p.E11K|uc011lvp.2,p.E11K	protein_coding	uc011lvp.2	nonsynonymous SNV	exon1	c.G31A	p.E11K	MEWENHTILVEFFLKGLSGHPRL	MEWENHTILVKFFLKGLSGHPRL	1.0	10.0	unscreened	-	4000_9:107361664-107361664 C>T_MEWENHTILVKFFLKGLSGHPRL
X:99662116-99662116 G>A	0.0	4000	MELANOMA	-	-	-	-	PCDH19	ENST00000420881,p.P494S|ENST00000255531,p.P494S|NM_001184880,p.P494S|uc010nmz.3,p.P494S|ENST00000373034,p.P494S|uc004efx.4,p.P494S|NM_001105243,p.P494S|NM_020766,p.P494S|uc004efw.4,p.P494S	protein_coding, processed_transcript	uc010nmz.3	nonsynonymous SNV	exon1	c.C1480T	p.P494S	LGLNGSVSYQIVPSQVRDMPVFTYV	LGLNGSVSYQIVSSQVRDMPVFTYV	1.0	10.0	unscreened	-	4000_X:99662116-99662116 G>A_LGLNGSVSYQIVSSQVRDMPVFTYV
1:115418711-115418711 G>A	0.0	4000	MELANOMA	-	-	-	-	SYCP1	NM_003176,p.E227K|ENST00000455987,p.E227K|ENST00000369518,p.E227K|NM_001282541,p.E227K|ENST00000369522,p.E227K|uc001efr.3,p.E227K|uc009wgw.3,p.E227K|uc001efq.3,p.E227K|NM_001282542,p.E227K	protein_coding, processed_transcript	uc009wgw.3	nonsynonymous SNV	exon10	c.G679A	p.E227K	NNNIEKMITAFEELRVQAENSRLEM	NNNIEKMITAFEKLRVQAENSRLEM	1.0	4.0	unscreened	-	4000_1:115418711-115418711 G>A_NNNIEKMITAFEKLRVQAENSRLEM
17:10298503-10298503 G>A	0.0	4000	MELANOMA	-	-	-	-	MYH8	uc002gmm.2,p.R1637C|ENST00000403437,p.R1637C|NM_002472,p.R1637C	protein_coding	uc002gmm.2	nonsynonymous SNV	exon34	c.C4909T	p.R1637C	LNEMEIQLNHANRLAAESLRNYRNT	LNEMEIQLNHANCLAAESLRNYRNT	1.0	2.0	unscreened	-	4000_17:10298503-10298503 G>A_LNEMEIQLNHANCLAAESLRNYRNT
11:55658804-55658804 A>T	0.0	4000	MELANOMA	-	-	-	-	TRIM51	ENST00000244891,p.N209I|NM_032681,p.N352I|uc010riq.2,p.N209I|uc010rip.2,p.N352I|ENST00000449290,p.N352I	protein_coding	uc010riq.2	nonsynonymous SNV	exon5	c.A626T	p.N209I	KYYWEVHMGDSWNWAFGVCNNYWKE	KYYWEVHMGDSWIWAFGVCNNYWKE	1.0	2.0	unscreened	-	4000_11:55658804-55658804 A>T_KYYWEVHMGDSWIWAFGVCNNYWKE
2:141079628-141079628 C>T	0.0	4000	MELANOMA	-	-	-	1	LRP1B	NM_018557,p.E4182K|uc002tvj.1,p.E4182K|ENST00000389484,p.E4182K	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon82	c.G12544A	p.E4182K	LDLPNPCLDLACEFLCLLNPSGATC	LDLPNPCLDLACKFLCLLNPSGATC	1.0	7.0	unscreened	-	4000_2:141079628-141079628 C>T_LDLPNPCLDLACKFLCLLNPSGATC
18:53303020-53303020 G>A	0.0	4000	MELANOMA	-	-	-	-	TCF4	ENST00000398339,p.P37S|ENST00000565124,p.P37S|uc002lga.3,p.P37S|uc021ukp.1,p.P37S|NM_001243226,p.P37S	retained_intron, protein_coding, processed_transcript	uc021ukp.1	nonsynonymous SNV	exon1	c.C109T	p.P37S	NYSKMEGAVESQPSFFKTSQDIVTC	NYSKMEGAVESQSSFFKTSQDIVTC	9.0	3.0	unscreened	-	4000_18:53303020-53303020 G>A_NYSKMEGAVESQSSFFKTSQDIVTC
9:24544976-24544976 C>T	0.0	4000	MELANOMA	-	-	-	-	IZUMO3	ENST00000543880,p.E129K	protein_coding	ENST00000543880	nonsynonymous SNV	exon3	c.G385A	p.E129K	ESKLKELLKNFSEIACSEDCIVVEG	ESKLKELLKNFSKIACSEDCIVVEG	1.0	10.0	unscreened	-	4000_9:24544976-24544976 C>T_ESKLKELLKNFSKIACSEDCIVVEG
4:158057798-158057798 G>A	0.0	4000	MELANOMA	-	-	ID=COSM1695148;OCCURENCE=1(skin)	-	GLRB	uc021xtp.1,p.E159K|ENST00000264428,p.E159K|uc021xtq.1,p.E159K|ENST00000509282,p.E159K|NM_001166061,p.E159K|uc003ipj.2,p.E159K|ENST00000541722,p.E159K|NM_001166060,p.E159K|NM_000824,p.E159K	retained_intron, protein_coding, nonsense_mediated_decay	uc021xtq.1	nonsynonymous SNV	exon5	c.G475A	p.E159K	NEKSANFHDVTQENILLFIFRDGDV	NEKSANFHDVTQKNILLFIFRDGDV	3.0	5.0	unscreened	-	4000_4:158057798-158057798 G>A_NEKSANFHDVTQKNILLFIFRDGDV
7:103275938-103275938 G>A	0.0	4000	MELANOMA	-	-	-	-	RELN	ENST00000343529,p.S800F|NM_173054,p.S800F|NM_005045,p.S800F|ENST00000428762,p.S800F|ENST00000424685,p.S800F|uc010liz.3,p.S800F|uc022ajq.1,p.S800F|uc022ajr.1,p.S800F	retained_intron, protein_coding, processed_transcript	uc022ajr.1	nonsynonymous SNV	exon19	c.C2399T	p.S800F	PDQPGEGVLLHYSYDNGITWKLLEH	PDQPGEGVLLHYFYDNGITWKLLEH	2.0	5.0	unscreened	-	4000_7:103275938-103275938 G>A_PDQPGEGVLLHYFYDNGITWKLLEH
16:23226413-23226413 G>A	0.0	4000	MELANOMA	-	-	-	-	SCNN1G	NM_001039,p.E525K|uc002dlm.1,p.E525K|ENST00000300061,p.E525K	protein_coding	uc002dlm.1	nonsynonymous SNV	exon13	c.G1573A	p.E525K	QRSIMESPANSIEMLLSNFGGQLGL	QRSIMESPANSIKMLLSNFGGQLGL	2.0	1.0	unscreened	-	4000_16:23226413-23226413 G>A_QRSIMESPANSIKMLLSNFGGQLGL
3:46728594-46728594 G>A	0.0	4000	MELANOMA	-	-	-	-	ALS2CL	NM_001190707,p.S138L|ENST00000431015,p.S138L|uc003cqa.2,p.S138L|ENST00000415953,p.S138L|uc003cqb.2,p.S138L|ENST00000450172,p.S138L|NM_147129,p.S138L|ENST00000434140,p.S138L|ENST00000318962,p.S138L	retained_intron, protein_coding, nonsense_mediated_decay	uc003cqb.2	nonsynonymous SNV	exon5	c.C413T	p.S138L	WRGQRKALRQLLSGVSSEGSVGASL	WRGQRKALRQLLLGVSSEGSVGASL	4.0	2.0	unscreened	-	4000_3:46728594-46728594 G>A_WRGQRKALRQLLLGVSSEGSVGASL
19:22156833-22156833 G>A	0.0	4000	MELANOMA	-	-	-	-	ZNF208	uc021urr.1,p.H335Y|NM_007153,p.H335Y|ENST00000397126,p.H335Y	protein_coding	uc021urr.1	nonsynonymous SNV	exon4	c.C1003T	p.H335Y	SKVSTLITHKAIHAGEKPYKCKECG	SKVSTLITHKAIYAGEKPYKCKECG	4.0	9.0	unscreened	-	4000_19:22156833-22156833 G>A_SKVSTLITHKAIYAGEKPYKCKECG
18:34298394-34298394 C>T	0.0	4000	MELANOMA	-	-	-	-	FHOD3	uc010dna.1,p.P173S|NM_001281740,p.P1045S|NM_001281739,p.P853S|uc002kzs.1,p.P870S|uc010dmz.1,p.P585S|ENST00000590592,p.P1045S|ENST00000257209,p.P870S|ENST00000445677,p.P832S|uc021uiv.1,p.P1045S|NM_025135,p.P870S|uc002kzt.1,p.P853S|ENST00000359247,p.P853S	retained_intron, protein_coding, processed_transcript	uc021uiv.1	nonsynonymous SNV	exon19	c.C3133T	p.P1045S	PPPPPPPLLDSIPPPPVPGNLLVPP	PPPPPPPLLDSISPPPVPGNLLVPP	6.0	3.0	unscreened	-	4000_18:34298394-34298394 C>T_PPPPPPPLLDSISPPPVPGNLLVPP
11:62366028-62366041 GAGAAAGAAAAAGT>-	1.0	4000	MELANOMA	-	-	-	-	MTA2	uc001ntq.2,p.E87fs|ENST00000278823,p.E87fs|NM_004739,p.E87fs	retained_intron, protein_coding	uc001ntq.2	frameshift deletion	exon4	c.261_274del	p.E87fs	VSEQQRHQLKHRELFLSRQFESLPA	VSEQQRHQLKHREAI	9.0	1.0	unscreened	-	4000_11:62366028-62366041 GAGAAAGAAAAAGT>-_VSEQQRHQLKHREAI
10:45478087-45478087 T>C	1.0	4000	MELANOMA	-	-	-	-	RASSF4	uc009xmn.3,p.M16T|uc001jbo.3,p.M86T|NM_032023,p.M86T|ENST00000340258,p.M86T|uc001jbp.3,p.M117T|uc031puu.1,p.M46T	retained_intron, protein_coding, processed_transcript	uc031puu.1	nonsynonymous SNV	exon1	c.T137C	p.M46T	DREQVHLPSTSWMPRRPSCPLKEPS	DREQVHLPSTSWTPRRPSCPLKEPS	9.0	10.0	unscreened	-	4000_10:45478087-45478087 T>C_DREQVHLPSTSWTPRRPSCPLKEPS
3:96963084-96963084 T>A	0.0	4000	MELANOMA	-	-	-	-	EPHA6	uc003drp.1,p.F520Y|uc010how.1,p.F520Y|ENST00000470610,p.F520Y|ENST00000389672,p.F520Y|NM_001080448,p.F520Y	protein_coding, nonsense_mediated_decay	uc010how.1	nonsynonymous SNV	exon5	c.T1559A	p.F520Y	EIEAMNGVSELSFSPKPFTAITVTT	EIEAMNGVSELSYSPKPFTAITVTT	1.0	8.0	unscreened	-	4000_3:96963084-96963084 T>A_EIEAMNGVSELSYSPKPFTAITVTT
10:74702498-74702498 C>T	0.0	4000	MELANOMA	-	-	ID=COSM136789;OCCURENCE=1(skin)	-	PLA2G12B	uc001jtf.1,p.G71E|uc010qjz.1,p.G71E|ENST00000373032,p.G71E|NM_032562,p.G71E	protein_coding	uc010qjz.1	nonsynonymous SNV	exon2	c.G212A	p.G71E	GKNGVCQYRCRYGKAPMPRPGYKPQ	GKNGVCQYRCRYEKAPMPRPGYKPQ	1.0	10.0	unscreened	-	4000_10:74702498-74702498 C>T_GKNGVCQYRCRYEKAPMPRPGYKPQ
18:29038448-29038448 G>A	0.0	4000	MELANOMA	-	-	ID=COSM987592;OCCURENCE=1(endometrium)	-	DSG3	uc002kws.3,p.R86Q|NM_001944,p.R86Q|ENST00000257189,p.R86Q	protein_coding	uc002kws.3	nonsynonymous SNV	exon4	c.G257A	p.R86Q	TSDYQATQKITYRISGVGIDQPPFG	TSDYQATQKITYQISGVGIDQPPFG	1.0	8.0	unscreened	-	4000_18:29038448-29038448 G>A_TSDYQATQKITYQISGVGIDQPPFG
8:52232540-52232540 G>A	0.0	4000	MELANOMA	-	-	-	-	PXDNL	NM_144651,p.P1435S|uc003xqu.4,p.P1435S|ENST00000356297,p.P1435S	retained_intron, protein_coding, nonsense_mediated_decay	uc003xqu.4	nonsynonymous SNV	exon23	c.C4303T	p.P1435S	QVTCVVEICPPAPCPSPELVKGTCC	QVTCVVEICPPASCPSPELVKGTCC	3.0	2.0	unscreened	-	4000_8:52232540-52232540 G>A_QVTCVVEICPPASCPSPELVKGTCC
8:139163759-139163759 G>A	0.0	4000	MELANOMA	-	-	-	2	FAM135B	uc003yvb.3,p.P549S|NM_015912,p.P987S|uc003yux.3,p.P888S|ENST00000395297,p.P987S|ENST00000276737,p.P987S|uc003yuy.3,p.P987S|uc003yva.3,p.P549S|ENST00000467365,p.P297S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yvb.3	nonsynonymous SNV	exon1	c.C1645T	p.P549S	FPEAKHKAGTVCPTVTHSVHSQVLK	FPEAKHKAGTVCSTVTHSVHSQVLK	1.0	1.0	unscreened	-	4000_8:139163759-139163759 G>A_FPEAKHKAGTVCSTVTHSVHSQVLK
7:23508143-23508143 C>T	0.0	4000	MELANOMA	-	-	-	-	IGF2BP3	uc003swg.3,p.G65E|ENST00000258729,p.G65E|ENST00000421467,p.G65E|NM_006547,p.G65E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003swg.3	nonsynonymous SNV	exon2	c.G194A	p.G65E	AIEALSGKIELHGKPIEVEHSVPKR	AIEALSGKIELHEKPIEVEHSVPKR	7.0	4.0	unscreened	-	4000_7:23508143-23508143 C>T_AIEALSGKIELHEKPIEVEHSVPKR
1:65313285-65313285 C>T	1.0	4000	MELANOMA	-	-	-	1	JAK1	uc009wam.1,p.G610E|NM_002227,p.G610E|uc001dbu.1,p.G610E|ENST00000342505,p.G610E	protein_coding, processed_transcript	uc009wam.1	nonsynonymous SNV	exon14	c.G1829A	p.G610E	YSGTLMDYKDDEGTSEEKKIKVILK	YSGTLMDYKDDEETSEEKKIKVILK	10.0	3.0	-	-	4000_1:65313285-65313285 C>T_YSGTLMDYKDDEETSEEKKIKVILK
19:40581454-40581454 G>A	0.0	4000	MELANOMA	-	-	-	-	ZNF780A	uc002omz.3,p.H299Y|ENST00000595687,p.H299Y|NM_001142578,p.H299Y|ENST00000450241,p.H265Y|uc010xvh.2,p.H300Y|NM_001142577,p.H300Y|NM_001010880,p.H299Y|ENST00000455521,p.H300Y|uc002omy.3,p.H299Y|ENST00000340963,p.H299Y|ENST00000594395,p.H300Y	protein_coding, non_stop_decay	uc010xvh.2	nonsynonymous SNV	exon6	c.C898T	p.H300Y	NRGAHLIQHQKIHSNEKPFVCKECG	NRGAHLIQHQKIYSNEKPFVCKECG	8.0	3.0	unscreened	-	4000_19:40581454-40581454 G>A_NRGAHLIQHQKIYSNEKPFVCKECG
10:50154121-50154121 C>T	0.0	4000	MELANOMA	-	-	-	-	WDFY4	uc009xob.3,p.L59F|NM_020945,p.L2596F|uc001jha.4,p.L2596F|uc010qgn.1,p.L59F|ENST00000325239,p.L2596F	protein_coding, processed_transcript	uc010qgn.1	nonsynonymous SNV	exon4	c.C175T	p.L59F	TLNLANPKIFRDLSKPMGAQTKERK	TLNLANPKIFRDFSKPMGAQTKERK	7.0	6.0	unscreened	-	4000_10:50154121-50154121 C>T_TLNLANPKIFRDFSKPMGAQTKERK
10:45478087-45478087 T>C	1.0	4000	MELANOMA	-	-	-	-	RASSF4	uc001jbt.3,p.M16T|ENST00000427758,p.M86T|ENST00000334940,p.M68T	retained_intron, protein_coding, processed_transcript	uc001jbt.3	nonsynonymous SNV	exon1	c.T47C	p.M16T	DREQVHLPSTSWMPRRPSCPLGCWS	DREQVHLPSTSWTPRRPSCPLGCWS	9.0	10.0	unscreened	-	4000_10:45478087-45478087 T>C_DREQVHLPSTSWTPRRPSCPLGCWS
19:55105717-55105717 C>T	0.0	4000	MELANOMA	-	-	-	-	LILRA1	NM_001278319,p.P3L|NM_001278318,p.P3L|ENST00000251372,p.P3L|uc010yfh.2,p.P3L|uc002qgh.2,p.P3L|ENST00000453777,p.P3L|NM_006863,p.P3L	retained_intron, protein_coding, processed_transcript	uc010yfh.2	nonsynonymous SNV	exon1	c.C8T	p.P3L	MTPIVTVLICLRLSL	MTLIVTVLICLRLSL	5.0	6.0	unscreened	-	4000_19:55105717-55105717 C>T_MTLIVTVLICLRLSL
20:2375971-2375971 C>T	0.0	4000	MELANOMA	-	-	-	-	TGM6	ENST00000202625,p.P105S|NM_198994,p.P105S|uc002wfy.1,p.P105S|NM_001254734,p.P105S|ENST00000381423,p.P105S|uc010gal.1,p.P105S	protein_coding, processed_transcript	uc010gal.1	nonsynonymous SNV	exon3	c.C313T	p.P105S	MEKTLTVSLASPPSAVIGRYLLSIR	MEKTLTVSLASPSSAVIGRYLLSIR	1.0	1.0	unscreened	-	4000_20:2375971-2375971 C>T_MEKTLTVSLASPSSAVIGRYLLSIR
18:47101924-47101924 G>A	0.0	4000	MELANOMA	-	-	-	-	LIPG	ENST00000580036,p.G253R|uc002ldv.3,p.G253R|uc002ldu.1,p.G253R|ENST00000577628,p.G289R|ENST00000261292,p.G253R|NM_006033,p.G253R	protein_coding, non_stop_decay, TEC	uc002ldv.3	nonsynonymous SNV	exon5	c.G757A	p.G253R	IYPNGGDFQPGCGLNDVLGSIAYGT	IYPNGGDFQPGCRLNDVLGSIAYGT	4.0	3.0	unscreened	-	4000_18:47101924-47101924 G>A_IYPNGGDFQPGCRLNDVLGSIAYGT
13:32360545-32360545 G>A	0.0	4000	MELANOMA	-	-	-	-	RXFP2	NM_130806,p.E319K|uc001utt.3,p.E319K|ENST00000298386,p.E319K	protein_coding	uc001utt.3	nonsynonymous SNV	exon12	c.G955A	p.E319K	LGELDLSSNTITELSPHLFKDLKLL	LGELDLSSNTITKLSPHLFKDLKLL	1.0	6.0	unscreened	-	4000_13:32360545-32360545 G>A_LGELDLSSNTITKLSPHLFKDLKLL
13:32360545-32360545 G>A	0.0	4000	MELANOMA	-	-	-	-	RXFP2	ENST00000380314,p.E295K|uc010aba.3,p.E295K|NM_001166058,p.E295K	protein_coding	uc010aba.3	nonsynonymous SNV	exon11	c.G883A	p.E295K	LTVLDLSSNTITELSPHLFKDLKLL	LTVLDLSSNTITKLSPHLFKDLKLL	1.0	6.0	unscreened	-	4000_13:32360545-32360545 G>A_LTVLDLSSNTITKLSPHLFKDLKLL
1:196874370-196874370 G>A	0.0	4000	MELANOMA	-	-	-	-	CFHR4	uc009wyy.3,p.G129E|NM_001201551,p.G129E|ENST00000367416,p.G129E|NM_001201550,p.G130E|uc001gtp.3,p.G130E	protein_coding	uc009wyy.3	nonsynonymous SNV	exon3	c.G386A	p.G129E	KPGYATAEGNSSGSITCLQNGWSTQ	KPGYATAEGNSSESITCLQNGWSTQ	2.0	5.0	unscreened	-	4000_1:196874370-196874370 G>A_KPGYATAEGNSSESITCLQNGWSTQ
3:164750437-164750437 C>T	0.0	4000	MELANOMA	-	-	-	-	SI	ENST00000264382,p.G870E|NM_001041,p.G870E|uc003fei.3,p.G870E	retained_intron, protein_coding, nonsense_mediated_decay	uc003fei.3	nonsynonymous SNV	exon24	c.G2609A	p.G870E	LDIVCTHSSYQEGTTLAFQTVKILG	LDIVCTHSSYQEETTLAFQTVKILG	1.0	5.0	unscreened	-	4000_3:164750437-164750437 C>T_LDIVCTHSSYQEETTLAFQTVKILG
10:45478087-45478087 T>C	1.0	4000	MELANOMA	-	-	-	-	RASSF4	ENST00000374417,p.M86T	retained_intron, protein_coding, processed_transcript	ENST00000374417	nonsynonymous SNV	exon4	c.T257C	p.M86T	DREQVHLPSTSWMPRRPSCPLAPGG	DREQVHLPSTSWTPRRPSCPLAPGG	9.0	10.0	unscreened	-	4000_10:45478087-45478087 T>C_DREQVHLPSTSWTPRRPSCPLAPGG
5:76264604-76264604 G>A	0.0	4000	MELANOMA	-	-	-	-	CRHBP	ENST00000274368,p.G288E|uc003ker.3,p.G288E|NM_001882,p.G288E	retained_intron, protein_coding, processed_transcript	uc003ker.3	nonsynonymous SNV	exon7	c.G863A	p.G288E	GCDNTVVRMVSSGKHVNRVTFEYRQ	GCDNTVVRMVSSEKHVNRVTFEYRQ	3.0	8.0	unscreened	-	4000_5:76264604-76264604 G>A_GCDNTVVRMVSSEKHVNRVTFEYRQ
15:24923031-24923031 A>C	0.0	4000	MELANOMA	-	-	-	-	NPAP1	ENST00000329468,p.I673L|uc001ywo.3,p.I673L|NM_018958,p.I673L	protein_coding	uc001ywo.3	nonsynonymous SNV	exon1	c.A2017C	p.I673L	LPSACVFLSLPIIPPPDTSTLVNSA	LPSACVFLSLPILPPPDTSTLVNSA	1.0	6.0	unscreened	-	4000_15:24923031-24923031 A>C_LPSACVFLSLPILPPPDTSTLVNSA
11:51515952-51515952 G>A	0.0	4000	MELANOMA	-	-	-	-	OR4C46	NM_001004703,p.R224K|uc010ric.2,p.R224K|ENST00000328188,p.R224K	protein_coding	uc010ric.2	nonsynonymous SNV	exon1	c.G671A	p.R224K	LLVSYVVILCSLRTHSLEARHKALS	LLVSYVVILCSLKTHSLEARHKALS	1.0	8.0	unscreened	-	4000_11:51515952-51515952 G>A_LLVSYVVILCSLKTHSLEARHKALS
2:73762029-73762029 C>T	1.0	4000	MELANOMA	-	-	-	-	ALMS1	uc002sjf.1,p.P3244L|uc010fev.1,p.P103L|ENST00000409009,p.P3244L|uc002sjh.1,p.P2674L|uc002sjg.3,p.P2674L|ENST00000264448,p.P3286L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fev.1	nonsynonymous SNV	exon2	c.C308T	p.P103L	KMYYVPQLRQIPPSPDSKSDTTVES	KMYYVPQLRQIPLSPDSKSDTTVES	8.0	10.0	-	-	4000_2:73762029-73762029 C>T_KMYYVPQLRQIPLSPDSKSDTTVES
15:81637124-81637124 C>T	0.0	4000	MELANOMA	-	-	-	-	TMC3	uc021ssk.1,p.E501K|ENST00000558726,p.E502K|uc002bgp.3,p.E501K|uc021ssj.1,p.E501K|ENST00000359440,p.E501K|NM_001080532,p.E501K	retained_intron, protein_coding	uc021ssk.1	nonsynonymous SNV	exon13	c.G1501A	p.E501K	SLHTQSPQDQCWETYVGQEMLKLSI	SLHTQSPQDQCWKTYVGQEMLKLSI	1.0	5.0	unscreened	-	4000_15:81637124-81637124 C>T_SLHTQSPQDQCWKTYVGQEMLKLSI
2:120231094-120231094 C>T	0.0	4000	MELANOMA	-	-	-	-	SCTR	uc002tma.3,p.E114K|NM_002980,p.E114K|ENST00000019103,p.E114K	retained_intron, protein_coding	uc002tma.3	nonsynonymous SNV	exon4	c.G340A	p.E114K	SLFRNCTQDGWSETFPRPNLACGVN	SLFRNCTQDGWSKTFPRPNLACGVN	2.0	9.0	unscreened	-	4000_2:120231094-120231094 C>T_SLFRNCTQDGWSKTFPRPNLACGVN
3:111637937-111637937 G>A	0.0	4000	MELANOMA	-	-	-	-	PHLDB2	NM_145753,p.E580K|NM_001134439,p.E580K|ENST00000495180,p.E166K|ENST00000393925,p.E580K|NM_001134438,p.E580K|uc003dyh.3,p.E580K|ENST00000393923,p.E607K|ENST00000498699,p.E580K|uc003dyd.3,p.E580K|NM_001134437,p.E607K|ENST00000412622,p.E580K|uc003dyg.3,p.E580K|uc010hqa.3,p.E580K|uc003dyc.3,p.E607K|ENST00000481953,p.E580K|uc003dyi.3,p.E166K|ENST00000431670,p.E580K	retained_intron, protein_coding, processed_transcript	uc010hqa.3	nonsynonymous SNV	exon4	c.G1738A	p.E580K	LSILPKTPEGISEEQRSQELAAMEE	LSILPKTPEGISKEQRSQELAAMEE	5.0	3.0	unscreened	-	4000_3:111637937-111637937 G>A_LSILPKTPEGISKEQRSQELAAMEE
4:69816856-69816856 C>T	0.0	4000	MELANOMA	-	-	-	-	UGT2A3	ENST00000251566,p.R208K|ENST00000503012,p.R74K|uc003hef.2,p.R208K|NM_024743,p.R208K	protein_coding, nonsense_mediated_decay	uc003hef.2	nonsynonymous SNV	exon1	c.G623A	p.R208K	MTGLTDRMTFLERVKNSMLSVLFHF	MTGLTDRMTFLEKVKNSMLSVLFHF	1.0	4.0	unscreened	-	4000_4:69816856-69816856 C>T_MTGLTDRMTFLEKVKNSMLSVLFHF
7:76828971-76828971 C>T	0.0	4000	MELANOMA	-	-	-	-	FGL2	ENST00000248598,p.G47E|uc003ugb.3,p.G47E|NM_006682,p.G47E	protein_coding	uc003ugb.3	nonsynonymous SNV	exon1	c.G140A	p.G47E	AKDVCPVRLESRGKCEEAGECPYQV	AKDVCPVRLESREKCEEAGECPYQV	10.0	9.0	unscreened	-	4000_7:76828971-76828971 C>T_AKDVCPVRLESREKCEEAGECPYQV
3:69171329-69171329 G>A	0.0	4000	MELANOMA	-	-	-	-	LMOD3	ENST00000475434,p.S70F|ENST00000489031,p.S70F|uc003dns.2,p.S70F|NM_198271,p.S70F|ENST00000420581,p.S70F|uc003dnt.2,p.S70F	protein_coding	uc003dnt.2	nonsynonymous SNV	exon2	c.C209T	p.S70F	TDKPPTGNFNHKSLVDYMYWEKASR	TDKPPTGNFNHKFLVDYMYWEKASR	1.0	4.0	unscreened	-	4000_3:69171329-69171329 G>A_TDKPPTGNFNHKFLVDYMYWEKASR
13:103389635-103389635 G>A	0.0	4000	MELANOMA	-	-	-	-	CCDC168	NM_001146197,p.S4471L|uc001vpm.3,p.S4471L	protein_coding	uc001vpm.3	nonsynonymous SNV	exon4	c.C13412T	p.S4471L	IKSATLQLRQQKSFDAGKIAHTKSF	IKSATLQLRQQKLFDAGKIAHTKSF	1.0	9.0	unscreened	-	4000_13:103389635-103389635 G>A_IKSATLQLRQQKLFDAGKIAHTKSF
19:3600463-3600463 G>A	0.0	4000	MELANOMA	-	-	-	-	TBXA2R	uc002lyg.2,p.S57L|NM_001060,p.S57L|ENST00000411851,p.S57L|ENST00000375190,p.S57L|uc021umv.1,p.S57L|NM_201636,p.S57L|ENST00000589966,p.S57L	protein_coding, processed_transcript	uc021umv.1	nonsynonymous SNV	exon2	c.C170T	p.S57L	ALSVLAGARQGGSHTRSSFLTFLCG	ALSVLAGARQGGLHTRSSFLTFLCG	2.0	6.0	unscreened	-	4000_19:3600463-3600463 G>A_ALSVLAGARQGGLHTRSSFLTFLCG
3:122647419-122647419 C>T	0.0	4000	MELANOMA	-	-	-	-	SEMA5B	uc010hro.2,p.R136Q|uc031sbm.1,p.R248Q|NM_001256347,p.R248Q|NM_001256346,p.R194Q|NM_001256348,p.R136Q|ENST00000357599,p.R194Q|uc003egb.2,p.R194Q|ENST00000475244,p.R194Q|uc011bju.2,p.R136Q|ENST00000195173,p.R194Q|uc003efz.2,p.R194Q|NM_001031702,p.R194Q|ENST00000393583,p.R194Q|ENST00000451055,p.R248Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc031sbm.1	nonsynonymous SNV	exon7	c.G743A	p.R248Q	CQNYVRVLIVAGRKVFMCGTNAFSP	CQNYVRVLIVAGQKVFMCGTNAFSP	3.0	9.0	unscreened	-	4000_3:122647419-122647419 C>T_CQNYVRVLIVAGQKVFMCGTNAFSP
9:74671753-74671753 C>T	0.0	4000	MELANOMA	-	-	-	-	C9orf57	uc004aip.3,p.G57E|NM_001128618,p.G57E|ENST00000377024,p.G57E	protein_coding	uc004aip.3	nonsynonymous SNV	exon3	c.G170A	p.G57E	LGVILFGRLGDLGTCQTKPGQYWKE	LGVILFGRLGDLETCQTKPGQYWKE	1.0	9.0	unscreened	-	4000_9:74671753-74671753 C>T_LGVILFGRLGDLETCQTKPGQYWKE
7:2566528-2566528 C>T	0.0	4000	MELANOMA	-	-	-	-	LFNG	NM_001040168,p.P349L|ENST00000359574,p.P349L|uc003smg.3,p.P349L	retained_intron, protein_coding	uc003smg.3	nonsynonymous SNV	exon7	c.C1046T	p.P349L	FENKRNAVHVKGPFSVEADPSRWGN	FENKRNAVHVKGLFSVEADPSRWGN	5.0	7.0	unscreened	-	4000_7:2566528-2566528 C>T_FENKRNAVHVKGLFSVEADPSRWGN
12:104014309-104014309 G>A	0.0	4000	MELANOMA	-	-	-	-	STAB2	NM_017564,p.G132E|ENST00000388887,p.G132E|uc001tjw.3,p.G132E	retained_intron, protein_coding, nonsense_mediated_decay	uc001tjw.3	nonsynonymous SNV	exon4	c.G395A	p.G132E	CNGRGSCAEGMEGNGTCSCQEGFGG	CNGRGSCAEGMEENGTCSCQEGFGG	3.0	10.0	unscreened	-	4000_12:104014309-104014309 G>A_CNGRGSCAEGMEENGTCSCQEGFGG
19:17025287-17025287 G>A	0.0	4000	MELANOMA	-	-	-	-	CPAMD8	ENST00000443236,p.P1317S|NM_015692,p.P1317S|uc002nfb.3,p.P1317S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nfb.3	nonsynonymous SNV	exon29	c.C3949T	p.P1317S	NKDIQGGIHGTVPLTAYVVVALLET	NKDIQGGIHGTVSLTAYVVVALLET	4.0	4.0	unscreened	-	4000_19:17025287-17025287 G>A_NKDIQGGIHGTVSLTAYVVVALLET
6:3137718-3137718 C>T	1.0	4000	MELANOMA	-	-	-	-	BPHL	uc003muy.3,p.L202F|ENST00000380379,p.L219F|uc003mva.3,p.L219F|NM_004332,p.L219F|ENST00000380375,p.L202F|ENST00000434640,p.L202F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003mva.3	nonsynonymous SNV	exon5	c.C655T	p.L219F	EKWVDGIRQFKHLPDGNICRHLLPR	EKWVDGIRQFKHFPDGNICRHLLPR	7.0	2.0	-	-	4000_6:3137718-3137718 C>T_EKWVDGIRQFKHFPDGNICRHLLPR
7:141740561-141740561 G>A	0.0	4000	MELANOMA	-	-	-	-	MGAM	NM_004668,p.E805K|ENST00000475668,p.E805K|ENST00000549489,p.E805K|uc003vwy.3,p.E805K	retained_intron, protein_coding, processed_transcript	uc003vwy.3	nonsynonymous SNV	exon21	c.G2413A	p.E805K	SQVRWRKQKVEMELPGDKIGLHLRG	SQVRWRKQKVEMKLPGDKIGLHLRG	2.0	1.0	unscreened	-	4000_7:141740561-141740561 G>A_SQVRWRKQKVEMKLPGDKIGLHLRG
2:234526612-234526612 G>A	0.0	4000	MELANOMA	-	-	-	-	UGT1A8	ENST00000373450,p.D87N|uc010zmv.1,p.D87N|uc002vup.3,p.D87N|NM_019076,p.D87N	protein_coding	uc010zmv.1	nonsynonymous SNV	exon1	c.G259A	p.D87N	KTYSTSYTLEDLDREFMDFADAQWK	KTYSTSYTLEDLNREFMDFADAQWK	1.0	1.0	unscreened	-	4000_2:234526612-234526612 G>A_KTYSTSYTLEDLNREFMDFADAQWK
17:6929893-6929893 C>T	0.0	4000	MELANOMA	-	-	-	-	BCL6B	uc002geg.2,p.S336L|ENST00000293805,p.S336L|ENST00000537931,p.S25L	retained_intron, protein_coding, processed_transcript	uc002geg.2	nonsynonymous SNV	exon6	c.C1007T	p.S336L	EDKPYKCQLCRSSFRYKGNLASHRT	EDKPYKCQLCRSLFRYKGNLASHRT	4.0	7.0	unscreened	-	4000_17:6929893-6929893 C>T_EDKPYKCQLCRSLFRYKGNLASHRT
1:176915071-176915071 C>T	0.0	4000	MELANOMA	-	-	ID=COSM1689260;OCCURENCE=1(skin)	-	ASTN1	ENST00000367657,p.G747E|uc001gld.1,p.G747E|ENST00000367654,p.G755E|uc009wwx.1,p.G747E|NM_004319,p.G747E|ENST00000361833,p.G747E|ENST00000424564,p.G747E|uc001glb.1,p.G747E|NM_001286164,p.G747E|NM_207108,p.G747E|uc001glc.3,p.G747E	protein_coding, processed_transcript	uc009wwx.1	nonsynonymous SNV	exon13	c.G2240A	p.G747E	HSKEVAAGQVLKGTFRQNNFARGLD	HSKEVAAGQVLKETFRQNNFARGLD	1.0	8.0	unscreened	-	4000_1:176915071-176915071 C>T_HSKEVAAGQVLKETFRQNNFARGLD
8:88885139-88885139 G>A	0.0	4000	MELANOMA	-	-	-	-	DCAF4L2	uc003ydz.3,p.S354F|ENST00000319675,p.S354F|NM_152418,p.S354F	protein_coding	uc003ydz.3	nonsynonymous SNV	exon1	c.C1061T	p.S354F	SLRHGHLLTTIPSPYPASENDIPSV	SLRHGHLLTTIPFPYPASENDIPSV	1.0	3.0	unscreened	-	4000_8:88885139-88885139 G>A_SLRHGHLLTTIPFPYPASENDIPSV
2:162273573-162273573 C>T	0.0	4000	MELANOMA	-	-	-	-	TBR1	ENST00000389554,p.H218Y|NM_006593,p.H218Y|uc002ubw.1,p.H218Y	retained_intron, protein_coding, processed_transcript	uc002ubw.1	nonsynonymous SNV	exon1	c.C652T	p.H218Y	VYLCNRPLWLKFHRHQTEMIITKQG	VYLCNRPLWLKFYRHQTEMIITKQG	1.0	6.0	unscreened	-	4000_2:162273573-162273573 C>T_VYLCNRPLWLKFYRHQTEMIITKQG
15:68606162-68606162 G>A	0.0	4000	MELANOMA	-	-	-	-	ITGA11	ENST00000423218,p.P946L|ENST00000315757,p.P946L|NM_001004439,p.P946L|uc010bib.3,p.P946L|uc002ari.3,p.P946L	retained_intron, protein_coding, processed_transcript	uc010bib.3	nonsynonymous SNV	exon23	c.C2837T	p.P946L	NERDSTKEDNVAPLRFHLKYEADVL	NERDSTKEDNVALLRFHLKYEADVL	4.0	8.0	unscreened	-	4000_15:68606162-68606162 G>A_NERDSTKEDNVALLRFHLKYEADVL
16:16255359-16255359 G>A	0.0	4000	MELANOMA	-	-	-	-	ABCC6	NM_001171,p.A1190V|uc002den.4,p.A1190V|ENST00000205557,p.A1190V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002den.4	nonsynonymous SNV	exon25	c.C3569T	p.A1190V	LGNGLVFAAATCAVLSKAHLSAGLV	LGNGLVFAAATCVVLSKAHLSAGLV	4.0	3.0	unscreened	-	4000_16:16255359-16255359 G>A_LGNGLVFAAATCVVLSKAHLSAGLV
4:80329203-80329203 C>T	0.0	4000	MELANOMA	-	-	ID=COSM1694593;OCCURENCE=1(skin)	-	GK2	ENST00000358842,p.G51E|NM_033214,p.G51E|uc003hlu.3,p.G51E	protein_coding	uc003hlu.3	nonsynonymous SNV	exon1	c.G152A	p.G51E	HKVELTQEFPKEGWVEQDPKEILQS	HKVELTQEFPKEEWVEQDPKEILQS	1.0	6.0	unscreened	-	4000_4:80329203-80329203 C>T_HKVELTQEFPKEEWVEQDPKEILQS
7:82546123-82546123 G>A	0.0	4000	MELANOMA	-	-	-	-	PCLO	NM_014510,p.P3727S|uc003uhv.2,p.P3727S|uc010lec.3,p.P692S|ENST00000423517,p.P3727S|ENST00000333891,p.P3727S|NM_033026,p.P3727S|uc003uhx.2,p.P3727S|ENST00000437081,p.P447S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lec.3	nonsynonymous SNV	exon2	c.C2074T	p.P692S	GAQKKVKRTLPNPPPEEISTGTQST	GAQKKVKRTLPNSPPEEISTGTQST	5.0	6.0	unscreened	-	4000_7:82546123-82546123 G>A_GAQKKVKRTLPNSPPEEISTGTQST
2:216914015-216914015 G>A	0.0	4000	MELANOMA	-	-	-	-	PECR	ENST00000265322,p.P229S|NM_018441,p.P229S|uc002vft.3,p.P229S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002vft.3	nonsynonymous SNV	exon6	c.C685T	p.P229S	GQSFFEGSFQKIPAKRIGVPEEVSS	GQSFFEGSFQKISAKRIGVPEEVSS	6.0	7.0	unscreened	-	4000_2:216914015-216914015 G>A_GQSFFEGSFQKISAKRIGVPEEVSS
17:28890334-28890334 G>A	0.0	4000	MELANOMA	-	-	-	-	TBC1D29	ENST00000580161,p.R115K|NM_015594,p.R115K|uc002hfh.3,p.R115K|ENST00000579181,p.R115K	retained_intron, protein_coding	uc002hfh.3	nonsynonymous SNV	exon5	c.G344A	p.R115K	SSRGPSLLQTPPRVPGQQALSRGDK	SSRGPSLLQTPPKVPGQQALSRGDK	1.0	3.0	unscreened	-	4000_17:28890334-28890334 G>A_SSRGPSLLQTPPKVPGQQALSRGDK
18:44543314-44543314 C>T	0.0	4000	MELANOMA	-	-	-	-	TCEB3CL,TCEB3CL2	ENST00000591973,p.G353D|NM_001242907,p.G353D|uc021ujk.1,p.G353D	protein_coding	uc021ujk.1	nonsynonymous SNV	exon1	c.G1058A	p.G353D	CLRVPRNNPDALGDVEGVPYSALEP	CLRVPRNNPDALDDVEGVPYSALEP	1.0	1.0	unscreened	-	4000_18:44543314-44543314 C>T_CLRVPRNNPDALDDVEGVPYSALEP
19:7911472-7911472 C>T	0.0	4000	MELANOMA	-	-	-	-	EVI5L	uc002min.3,p.A15V|ENST00000538904,p.A15V|uc010xjz.2,p.A15V|NM_001159944,p.A15V|ENST00000270530,p.A15V|NM_145245,p.A15V	retained_intron, protein_coding, processed_transcript	uc010xjz.2	nonsynonymous SNV	exon1	c.C44T	p.A15V	SPTLSPDSSSQEALSAPTCSPTSDS	SPTLSPDSSSQEVLSAPTCSPTSDS	6.0	4.0	unscreened	-	4000_19:7911472-7911472 C>T_SPTLSPDSSSQEVLSAPTCSPTSDS
6:42073096-42073096 C>T	0.0	4000	MELANOMA	-	-	-	-	C6orf132	ENST00000341865,p.G852R|uc003orw.2,p.G852R|NM_001164446,p.G852R	protein_coding	uc003orw.2	nonsynonymous SNV	exon4	c.G2554A	p.G852R	ALLLAARQRAQKGRSVGAALGRSSL	ALLLAARQRAQKRRSVGAALGRSSL	2.0	9.0	unscreened	-	4000_6:42073096-42073096 C>T_ALLLAARQRAQKRRSVGAALGRSSL
5:13753442-13753442 C>T	0.0	4000	MELANOMA	-	-	ID=COSM227742;OCCURENCE=1(NS)	-	DNAH5	uc003jfd.2,p.G3591E|NM_001369,p.G3591E|ENST00000265104,p.G3591E	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon63	c.G10772A	p.G3591E	QGLPNDDLSIQNGIIVTKASRYPLL	QGLPNDDLSIQNEIIVTKASRYPLL	2.0	7.0	unscreened	-	4000_5:13753442-13753442 C>T_QGLPNDDLSIQNEIIVTKASRYPLL
18:9886772-9886772 C>T	0.0	4000	MELANOMA	-	-	-	-	TXNDC2	ENST00000357775,p.P32L|NM_001098529,p.P99L|ENST00000306084,p.P99L|uc021ugx.1,p.P32L|ENST00000536353,p.P32L|NM_032243,p.P32L|uc002koi.4,p.P99L|uc002koh.4,p.P32L	protein_coding, processed_transcript	uc021ugx.1	nonsynonymous SNV	exon1	c.C95T	p.P32L	DDLPKSSANTSHPKQDDSPKSSEET	DDLPKSSANTSHLKQDDSPKSSEET	2.0	5.0	unscreened	-	4000_18:9886772-9886772 C>T_DDLPKSSANTSHLKQDDSPKSSEET
11:93826749-93826749 G>A	0.0	4000	MELANOMA	-	-	-	-	HEPHL1	ENST00000315765,p.G793R|NM_001098672,p.G793R|uc001pep.2,p.G793R	protein_coding	uc001pep.2	nonsynonymous SNV	exon13	c.G2377A	p.G793R	QYKKVVYREYTDGEFVEIKARPPRE	QYKKVVYREYTDREFVEIKARPPRE	1.0	3.0	unscreened	-	4000_11:93826749-93826749 G>A_QYKKVVYREYTDREFVEIKARPPRE
15:84611407-84611407 G>A	0.0	4000	MELANOMA	-	-	-	-	ADAMTSL3	uc010bmt.1,p.R726Q|ENST00000286744,p.R726Q|NM_207517,p.R726Q|uc002bjz.4,p.R726Q|ENST00000567476,p.R726Q|NM_001301110,p.R726Q	retained_intron, protein_coding, processed_transcript	uc010bmt.1	nonsynonymous SNV	exon18	c.G2177A	p.R726Q	PCSATCGVGIQTRDVYCLHPGETPA	PCSATCGVGIQTQDVYCLHPGETPA	5.0	2.0	unscreened	-	4000_15:84611407-84611407 G>A_PCSATCGVGIQTQDVYCLHPGETPA
X:26212448-26212448 C>T	0.0	4000	MELANOMA	-	-	-	-	MAGEB6	NM_173523,p.S162L|uc004dbr.3,p.S162L|uc022buc.1,p.S162L|ENST00000379034,p.S162L	protein_coding	uc022buc.1	nonsynonymous SNV	exon1	c.C485T	p.S162L	GASPTGSPDAGVSGSKYDVAAEGED	GASPTGSPDAGVLGSKYDVAAEGED	1.0	10.0	unscreened	-	4000_X:26212448-26212448 C>T_GASPTGSPDAGVLGSKYDVAAEGED
9:107289222-107289222 C>T	0.0	4000	MELANOMA	-	-	-	-	OR13C4	ENST00000277216,p.R90K|uc011lvn.2,p.R90K|NM_001001919,p.R90K	protein_coding	uc011lvn.2	nonsynonymous SNV	exon1	c.G269A	p.R90K	IPSTLVSLISKKRNISFSGCAVQMF	IPSTLVSLISKKKNISFSGCAVQMF	1.0	10.0	unscreened	-	4000_9:107289222-107289222 C>T_IPSTLVSLISKKKNISFSGCAVQMF
12:111758364-111758364 G>A	0.0	4000	MELANOMA	-	-	-	-	CUX2	ENST00000261726,p.E851K|uc001tsa.2,p.E851K|NM_015267,p.E851K	protein_coding, processed_transcript	uc001tsa.2	nonsynonymous SNV	exon17	c.G2551A	p.E851K	AAGAEDEPPRTGELKAEGATAEAGA	AAGAEDEPPRTGKLKAEGATAEAGA	2.0	10.0	unscreened	-	4000_12:111758364-111758364 G>A_AAGAEDEPPRTGKLKAEGATAEAGA
19:20728006-20728006 G>A	1.0	4000	MELANOMA	-	-	-	-	ZNF737	NM_001159293,p.H335Y|ENST00000427401,p.H335Y|uc002npa.3,p.H335Y	protein_coding, nonsense_mediated_decay	uc002npa.3	nonsynonymous SNV	exon4	c.C1003T	p.H335Y	KHPSVLTTHKRIHTGEKPYKCEECG	KHPSVLTTHKRIYTGEKPYKCEECG	8.0	2.0	-	-	4000_19:20728006-20728006 G>A_KHPSVLTTHKRIYTGEKPYKCEECG
1:153317853-153317853 G>A	0.0	4000	MELANOMA	-	-	-	-	PGLYRP4	uc001fbo.3,p.P49S|NM_020393,p.P49S|ENST00000359650,p.P49S	protein_coding, processed_transcript	uc001fbo.3	nonsynonymous SNV	exon4	c.C145T	p.P49S	FENISQLTEKGLPTDVSTTVSRKAW	FENISQLTEKGLSTDVSTTVSRKAW	1.0	7.0	unscreened	-	4000_1:153317853-153317853 G>A_FENISQLTEKGLSTDVSTTVSRKAW
6:96651034-96651034 G>A	0.0	4000	MELANOMA	-	-	-	-	FUT9	uc003pop.4,p.M1I|NM_006581,p.M1I|ENST00000302103,p.M1I|uc021zcw.1,p.M1I	protein_coding, processed_transcript	uc021zcw.1	nonsynonymous SNV	exon1	c.G3A	p.M1I	MTSTSKGILRPFL	ITSTSKGILRPFL	1.0	10.0	unscreened	-	4000_6:96651034-96651034 G>A_ITSTSKGILRPFL
6:30139684-30139684 C>T	0.0	4000	MELANOMA	-	-	-	-	TRIM15	NM_033229,p.T319I|ENST00000376694,p.T319I|uc010jrx.3,p.T319I	retained_intron, protein_coding, processed_transcript	uc010jrx.3	nonsynonymous SNV	exon7	c.C956T	p.T319I	LVLSEDRKSVRYTRQKKSLPDSPLR	LVLSEDRKSVRYIRQKKSLPDSPLR	1.0	1.0	unscreened	-	4000_6:30139684-30139684 C>T_LVLSEDRKSVRYIRQKKSLPDSPLR
7:82545808-82545808 C>T	0.0	4000	MELANOMA	-	-	-	-	PCLO	NM_033026,p.D3832N|ENST00000423517,p.D3832N|uc003uhv.2,p.D3832N|uc003uhx.2,p.D3832N|ENST00000437081,p.D552N|ENST00000333891,p.D3832N|NM_014510,p.D3832N|uc010lec.3,p.D797N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lec.3	nonsynonymous SNV	exon2	c.G2389A	p.D797N	ERAYLQGVAEDRDYMSDSEVSSTRP	ERAYLQGVAEDRNYMSDSEVSSTRP	5.0	1.0	unscreened	-	4000_7:82545808-82545808 C>T_ERAYLQGVAEDRNYMSDSEVSSTRP
8:99102183-99102183 G>A	0.0	4000	MELANOMA	-	-	ID=COSM243410;OCCURENCE=2(large_intestine),1(prostate)	-	ERICH5	uc003yih.1,p.R313Q|ENST00000318528,p.R313Q|NM_173549,p.R313Q	protein_coding	uc003yih.1	nonsynonymous SNV	exon2	c.G938A	p.R313Q	PEGIVGSMEHPARNVEAGAYVEMIR	PEGIVGSMEHPAQNVEAGAYVEMIR	1.0	4.0	unscreened	-	4000_8:99102183-99102183 G>A_PEGIVGSMEHPAQNVEAGAYVEMIR
1:156214681-156214681 C>T	0.0	4000	MELANOMA	-	-	-	-	PAQR6	NM_001272108,p.G100S|NM_024897,p.G105S|uc031pqi.1,p.G100S|uc010phg.2,p.G208S|NM_198406,p.G211S|NM_001272104,p.G211S|ENST00000340183,p.G230S|uc001fnx.2,p.G105S|uc001fnu.2,p.G211S|uc010phh.2,p.G211S|uc001foa.2,p.G105S|ENST00000368270,p.G187S|NM_001272105,p.G208S|ENST00000335852,p.G105S|ENST00000356983,p.G105S|uc001fnz.2,p.G105S|ENST00000292291,p.G211S|NM_001272107,p.G105S|ENST00000360733,p.G105S|ENST00000540423,p.G208S|uc001fnv.2,p.G187S	protein_coding, processed_transcript	uc031pqi.1	nonsynonymous SNV	exon5	c.G298A	p.G100S	PLFYRLGLCWGRGHGCGQEALSTSH	PLFYRLGLCWGRSHGCGQEALSTSH	4.0	2.0	unscreened	-	4000_1:156214681-156214681 C>T_PLFYRLGLCWGRSHGCGQEALSTSH
1:45288984-45288984 G>A	0.0	4000	MELANOMA	-	-	-	-	PTCH2	ENST00000447098,p.T1063I|ENST00000372192,p.T1063I|NM_001166292,p.T1063I|uc010olf.2,p.T1063I|NM_003738,p.T1063I|uc021omv.1,p.T1063I|uc010olg.2,p.T761I	protein_coding	uc021omv.1	nonsynonymous SNV	exon20	c.C3188T	p.T1063I	AAHALEHTFAPVTDGAISTLLGLLM	AAHALEHTFAPVIDGAISTLLGLLM	3.0	8.0	unscreened	-	4000_1:45288984-45288984 G>A_AAHALEHTFAPVIDGAISTLLGLLM
2:80530146-80530146 C>T	0.0	4000	MELANOMA	-	-	ID=COSM1023204,COSM1023205;OCCURENCE=1(endometrium)	-	LRRTM1	NM_178839,p.E267K|ENST00000433224,p.E267K|ENST00000409148,p.E267K|uc021vjt.1,p.E267K|ENST00000295057,p.E267K|uc002sok.1,p.E267K|ENST00000417012,p.E267K	protein_coding, nonsense_mediated_decay	uc021vjt.1	nonsynonymous SNV	exon1	c.G799A	p.E267K	VWNLEKMDLSGNEIEYMEPHVFETV	VWNLEKMDLSGNKIEYMEPHVFETV	1.0	1.0	unscreened	-	4000_2:80530146-80530146 C>T_VWNLEKMDLSGNKIEYMEPHVFETV
X:34148714-34148714 G>A	0.0	4000	MELANOMA	-	-	-	-	FAM47A	ENST00000346193,p.P561L|uc004ddg.3,p.P561L|NM_203408,p.P561L	protein_coding	uc004ddg.3	nonsynonymous SNV	exon1	c.C1682T	p.P561L	KSRRVSSLHPEPPKAPESHQFSEPP	KSRRVSSLHPEPLKAPESHQFSEPP	1.0	10.0	unscreened	-	4000_X:34148714-34148714 G>A_KSRRVSSLHPEPLKAPESHQFSEPP
7:150325013-150325013 C>T	0.0	4000	MELANOMA	-	-	-	-	GIMAP6	uc022apv.1,p.E295K|uc003whn.3,p.E225K|NM_024711,p.E225K|uc031szs.1,p.E247K|NM_001244072,p.E295K|ENST00000328902,p.E225K	protein_coding	uc031szs.1	nonsynonymous SNV	exon2	c.G739A	p.E247K	RELMEKVEAIMWENEGDYYSNKAYQ	RELMEKVEAIMWKNEGDYYSNKAYQ	8.0	1.0	unscreened	-	4000_7:150325013-150325013 C>T_RELMEKVEAIMWKNEGDYYSNKAYQ
7:141759677-141759677 G>A	0.0	4000	MELANOMA	-	-	-	-	MGAM	ENST00000475668,p.E1324K|ENST00000549489,p.E1324K|uc003vwy.3,p.E1324K|NM_004668,p.E1324K	retained_intron, protein_coding, processed_transcript	uc003vwy.3	nonsynonymous SNV	exon33	c.G3970A	p.E1324K	VILILDPAISGNETQPYPAFTRGVE	VILILDPAISGNKTQPYPAFTRGVE	2.0	2.0	unscreened	-	4000_7:141759677-141759677 G>A_VILILDPAISGNKTQPYPAFTRGVE
6:30919257-30919257 G>A	0.0	4000	MELANOMA	-	-	-	-	DPCR1	uc003nsg.2,p.E1006K|NM_080870,p.E1006K|ENST00000462446,p.E1006K	protein_coding	uc003nsg.2	nonsynonymous SNV	exon2	c.G3016A	p.E1006K	TTTSPTESTEHGERTANEKTTPSPA	TTTSPTESTEHGKRTANEKTTPSPA	1.0	10.0	unscreened	-	4000_6:30919257-30919257 G>A_TTTSPTESTEHGKRTANEKTTPSPA
7:2566528-2566528 C>T	0.0	4000	MELANOMA	-	-	-	-	LFNG	ENST00000402506,p.P278L|uc003smf.3,p.P349L|ENST00000222725,p.P349L|ENST00000338732,p.P220L|NM_001166355,p.P278L|uc021zyx.1,p.P220L|NM_002304,p.P220L|NM_001040167,p.P349L|uc021zyw.1,p.P278L|ENST00000402045,p.P220L	retained_intron, protein_coding	uc021zyx.1	nonsynonymous SNV	exon8	c.C659T	p.P220L	FENKRNAVHVKGPFSVEADPSRFRS	FENKRNAVHVKGLFSVEADPSRFRS	5.0	7.0	unscreened	-	4000_7:2566528-2566528 C>T_FENKRNAVHVKGLFSVEADPSRFRS
9:95165530-95165530 C>T	0.0	4000	MELANOMA	-	-	-	-	OGN	uc004asb.3,p.G54R|uc011ltx.2,p.G72R|ENST00000262551,p.G54R|NM_014057,p.G54R|ENST00000375561,p.G54R|NM_033014,p.G54R|ENST00000447356,p.G112R|uc004asa.3,p.G54R	protein_coding, processed_transcript	uc011ltx.2	nonsynonymous SNV	exon2	c.G214A	p.G72R	IFSQDYEDKYLDGKNIKEKETVIIP	IFSQDYEDKYLDRKNIKEKETVIIP	1.0	10.0	unscreened	-	4000_9:95165530-95165530 C>T_IFSQDYEDKYLDRKNIKEKETVIIP
8:143560806-143560806 C>T	0.0	4000	MELANOMA	-	-	-	-	BAI1	ENST00000517894,p.P562S|ENST00000521208,p.P562S|uc003ywm.3,p.P562S|NM_001702,p.P562S|ENST00000323289,p.P562S	retained_intron, protein_coding, nonsense_mediated_decay	uc003ywm.3	nonsynonymous SNV	exon7	c.C1684T	p.P562S	SGPFFGGAACQGPQDEYRQCGTQRC	SGPFFGGAACQGSQDEYRQCGTQRC	4.0	1.0	unscreened	-	4000_8:143560806-143560806 C>T_SGPFFGGAACQGSQDEYRQCGTQRC
4:46043224-46043224 A>T	0.0	4000	MELANOMA	-	-	-	-	GABRG1	ENST00000295452,p.N393K|NM_173536,p.N393K|uc003gxb.3,p.N393K	protein_coding	uc003gxb.3	nonsynonymous SNV	exon9	c.T1179A	p.N393K	GLHPGSTLIPMNNISVPQEDDYGYQ	GLHPGSTLIPMNKISVPQEDDYGYQ	1.0	9.0	unscreened	-	4000_4:46043224-46043224 A>T_GLHPGSTLIPMNKISVPQEDDYGYQ
20:54575844-54575844 T>A	0.0	4000	MELANOMA	-	-	-	-	CBLN4	ENST00000064571,p.K117N|uc002xxa.4,p.K117N|NM_080617,p.K117N	protein_coding	uc002xxa.4	nonsynonymous SNV	exon2	c.A351T	p.K117N	FFTLESVFVAPRKGIYSFSFHVIKV	FFTLESVFVAPRNGIYSFSFHVIKV	1.0	8.0	unscreened	-	4000_20:54575844-54575844 T>A_FFTLESVFVAPRNGIYSFSFHVIKV
15:51507962-51507962 T>C	0.0	4000	MELANOMA	-	-	-	-	CYP19A1	ENST00000396404,p.I266V|ENST00000558328,p.I266V|ENST00000260433,p.I266V|uc001zyz.4,p.I266V|ENST00000557934,p.I266V|ENST00000561075,p.I207V|NM_031226,p.I266V|ENST00000396402,p.I266V|NM_000103,p.I266V|ENST00000559878,p.I266V|ENST00000439712,p.I266V|uc001zzb.2,p.I266V|uc001zza.4,p.I266V	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc001zzb.2	nonsynonymous SNV	exon8	c.A796G	p.I266V	AIEVLIAEKRRRISTEEKLEECMDF	AIEVLIAEKRRRVSTEEKLEECMDF	6.0	9.0	unscreened	-	4000_15:51507962-51507962 T>C_AIEVLIAEKRRRVSTEEKLEECMDF
5:140230001-140230001 G>A	0.0	4000	MELANOMA	-	-	-	-	PCDHA9	ENST00000532602,p.D641N|uc003lht.1,p.D641N|ENST00000378122,p.D641N|NM_031857,p.D641N|uc003lhu.2,p.D641N|NM_014005,p.D641N	protein_coding	uc003lhu.2	nonsynonymous SNV	exon1	c.G1921A	p.D641N	GEISTTRALDETDAPRQRLLVLVKD	GEISTTRALDETNAPRQRLLVLVKD	1.0	1.0	unscreened	-	4000_5:140230001-140230001 G>A_GEISTTRALDETNAPRQRLLVLVKD
17:56277589-56277589 G>A	0.0	4000	MELANOMA	0.0005	-	-	-	EPX	uc002ivq.3,p.G514D|ENST00000225371,p.G514D|NM_000502,p.G514D	protein_coding	uc002ivq.3	nonsynonymous SNV	exon10	c.G1541A	p.G514D	AFFASWRIVYEGGIDPILRGLMATP	AFFASWRIVYEGDIDPILRGLMATP	1.0	1.0	unscreened	-	4000_17:56277589-56277589 G>A_AFFASWRIVYEGDIDPILRGLMATP
4:155749115-155749115 C>T	0.0	4000	MELANOMA	-	-	-	-	RBM46	ENST00000281722,p.P500S|NM_144979,p.P500S|uc003ioo.4,p.P500S	protein_coding	uc003ioo.4	nonsynonymous SNV	exon5	c.C1498T	p.P500S	SGTPSVLPYTSRPYSYPGYPLSPTI	SGTPSVLPYTSRSYSYPGYPLSPTI	4.0	4.0	unscreened	-	4000_4:155749115-155749115 C>T_SGTPSVLPYTSRSYSYPGYPLSPTI
5:41065451-41065451 C>T	0.0	4000	MELANOMA	-	-	-	-	MROH2B	uc003jmj.4,p.E115K|uc021xxt.1,p.E115K|ENST00000399564,p.E115K|NM_173489,p.E115K	retained_intron, protein_coding	uc021xxt.1	nonsynonymous SNV	exon4	c.G343A	p.E115K	ELPDEFVVLALAELATSYVSQSIPF	ELPDEFVVLALAKLATSYVSQSIPF	1.0	4.0	unscreened	-	4000_5:41065451-41065451 C>T_ELPDEFVVLALAKLATSYVSQSIPF
5:26915882-26915882 G>A	0.0	4000	MELANOMA	-	-	-	-	CDH9	ENST00000231021,p.R127C|uc003jgs.1,p.R127C|NM_016279,p.R127C|uc010iug.3,p.R127C	retained_intron, protein_coding	uc010iug.3	nonsynonymous SNV	exon3	c.C379T	p.R127C	KLDREEKSLYILRAKAIDRKTGRQV	KLDREEKSLYILCAKAIDRKTGRQV	1.0	8.0	unscreened	-	4000_5:26915882-26915882 G>A_KLDREEKSLYILCAKAIDRKTGRQV
20:6759104-6759104 C>T	0.0	4000	MELANOMA	-	-	-	-	BMP2	uc002wmu.1,p.P187S|ENST00000378827,p.P187S|NM_001200,p.P187S	protein_coding	uc002wmu.1	nonsynonymous SNV	exon3	c.C559T	p.P187S	EIIKPATANSKFPVTRLLDTRLVNQ	EIIKPATANSKFSVTRLLDTRLVNQ	4.0	4.0	unscreened	-	4000_20:6759104-6759104 C>T_EIIKPATANSKFSVTRLLDTRLVNQ
3:187416621-187416621 C>T	0.0	4000	MELANOMA	-	-	-	-	RTP2	NM_001004312,p.E115K|uc003fro.1,p.E115K|ENST00000358241,p.E115K	protein_coding	uc003fro.1	nonsynonymous SNV	exon2	c.G343A	p.E115K	RLDESSMLEENIEGLVDNLITSLRE	RLDESSMLEENIKGLVDNLITSLRE	1.0	3.0	unscreened	-	4000_3:187416621-187416621 C>T_RLDESSMLEENIKGLVDNLITSLRE
7:143826258-143826258 T>C	0.0	4000	MELANOMA	-	-	-	-	OR2A14	NM_001001659,p.V18A|uc011kua.2,p.V18A|ENST00000408899,p.V18A	protein_coding	uc011kua.2	nonsynonymous SNV	exon1	c.T53C	p.V18A	TWITDITLPRFQVGPALEILLCGLF	TWITDITLPRFQAGPALEILLCGLF	1.0	6.0	unscreened	-	4000_7:143826258-143826258 T>C_TWITDITLPRFQAGPALEILLCGLF
19:10129531-10129531 G>A	0.0	4000	MELANOMA	-	-	ID=COSM1711797;OCCURENCE=1(skin)	-	RDH8	ENST00000591589,p.M149I|NM_015725,p.M149I|uc002mmr.4,p.M149I|ENST00000171214,p.M129I	retained_intron, protein_coding	uc002mmr.4	nonsynonymous SNV	exon3	c.G447A	p.M149I	GAVRLVKAVLPGMKRRRQGHIVVIS	GAVRLVKAVLPGIKRRRQGHIVVIS	1.0	7.0	unscreened	-	4000_19:10129531-10129531 G>A_GAVRLVKAVLPGIKRRRQGHIVVIS
4:20544117-20544117 G>T	0.0	4000	MELANOMA	-	-	-	-	SLIT2	uc003gpr.1,p.G715V|ENST00000503837,p.G711V|NM_001289136,p.G707V|ENST00000504154,p.G715V|ENST00000503823,p.G707V|NM_004787,p.G715V|ENST00000273739,p.G719V|uc003gps.1,p.G707V|NM_001289135,p.G711V	retained_intron, protein_coding, processed_transcript	uc003gps.1	nonsynonymous SNV	exon20	c.G2120T	p.G707V	QDVAIQDFTCDDGNDDNSCSPLSRC	QDVAIQDFTCDDVNDDNSCSPLSRC	6.0	6.0	unscreened	-	4000_4:20544117-20544117 G>T_QDVAIQDFTCDDVNDDNSCSPLSRC
4:70071204-70071204 G>A	0.0	4000	MELANOMA	-	-	-	-	UGT2B11	uc003heh.3,p.L362F|ENST00000446444,p.L362F|NM_001073,p.L362F	retained_intron, protein_coding	uc003heh.3	nonsynonymous SNV	exon4	c.C1084T	p.L362F	NTRLYKWIPQNDLLGHPKTRAFITH	NTRLYKWIPQNDFLGHPKTRAFITH	1.0	9.0	unscreened	-	4000_4:70071204-70071204 G>A_NTRLYKWIPQNDFLGHPKTRAFITH
9:107361481-107361481 A>T	0.0	4000	MELANOMA	-	-	-	-	OR13C5	uc011lvp.2,p.C72S|ENST00000374779,p.C72S|NM_001004482,p.C72S	protein_coding	uc011lvp.2	nonsynonymous SNV	exon1	c.T214A	p.C72S	YFFLGNLSFLDICYTTTSIPSTLVS	YFFLGNLSFLDISYTTTSIPSTLVS	1.0	5.0	unscreened	-	4000_9:107361481-107361481 A>T_YFFLGNLSFLDISYTTTSIPSTLVS
19:56370443-56370443 G>A	0.0	4000	MELANOMA	-	-	-	-	NLRP4	uc002qmf.3,p.D487N|uc010etf.3,p.D393N|ENST00000346986,p.D562N|ENST00000301295,p.D562N|ENST00000587891,p.D487N|uc002qmd.4,p.D562N|NM_134444,p.D562N	protein_coding	uc010etf.3	nonsynonymous SNV	exon1	c.G1177A	p.D393N	SLAIFYCLFEMQDPAFVKQAVNLLQ	SLAIFYCLFEMQNPAFVKQAVNLLQ	1.0	6.0	unscreened	-	4000_19:56370443-56370443 G>A_SLAIFYCLFEMQNPAFVKQAVNLLQ
20:35414899-35414899 G>A	1.0	4000	MELANOMA	-	-	-	-	SOGA1	NM_080627,p.P1659S|ENST00000357779,p.P1421S|uc021wcx.1,p.P1659S|ENST00000237536,p.P1659S|ENST00000456801,p.P1262S	retained_intron, protein_coding, nonsense_mediated_decay	uc021wcx.1	nonsynonymous SNV	exon15	c.C4975T	p.P1659S	ESSWGGEERALPPSE	ESSWGGEERALPSSE	7.0	1.0	-	-	4000_20:35414899-35414899 G>A_ESSWGGEERALPSSE
8:92382038-92382038 C>T	0.0	4000	MELANOMA	-	-	-	-	SLC26A7	ENST00000276609,p.S551F|uc003yex.3,p.S551F|uc003yfa.3,p.S551F|uc003yez.3,p.S551F|NM_052832,p.S551F|ENST00000523719,p.S551F|NM_001282357,p.S250F|NM_134266,p.S551F|NM_001282356,p.S551F|ENST00000309536,p.S551F	protein_coding, processed_transcript, nonsense_mediated_decay	uc003yfa.3	nonsynonymous SNV	exon15	c.C1652T	p.S551F	DISKCEQNTLLNSLSNGNCNEEASQ	DISKCEQNTLLNFLSNGNCNEEASQ	4.0	5.0	unscreened	-	4000_8:92382038-92382038 C>T_DISKCEQNTLLNFLSNGNCNEEASQ
5:137213302-137213302 G>A	0.0	4000	MELANOMA	-	-	-	-	MYOT	uc011cyh.2,p.D94N|NM_006790,p.D209N|NM_001135940,p.D25N|uc003lbv.3,p.D209N|uc011cye.2,p.D209N|NM_001300911,p.D94N|ENST00000239926,p.D209N|ENST00000515645,p.D94N|uc011cyg.2,p.D25N|ENST00000421631,p.D25N	retained_intron, protein_coding, processed_transcript	uc011cyh.2	nonsynonymous SNV	exon5	c.G280A	p.D94N	AVFQAQDDSGAQDSQQHNSEHARLQ	AVFQAQDDSGAQNSQQHNSEHARLQ	6.0	10.0	unscreened	-	4000_5:137213302-137213302 G>A_AVFQAQDDSGAQNSQQHNSEHARLQ
3:97852104-97852104 C>T	0.0	4000	MELANOMA	-	-	-	-	OR5H1	uc011bgt.2,p.S188F|ENST00000354565,p.S188F|NM_001005338,p.S188F	protein_coding	uc011bgt.2	nonsynonymous SNV	exon1	c.C563T	p.S188F	HIYCDTIPLSKISCTDSSINFLMVF	HIYCDTIPLSKIFCTDSSINFLMVF	1.0	2.0	unscreened	-	4000_3:97852104-97852104 C>T_HIYCDTIPLSKIFCTDSSINFLMVF
18:67406324-67406324 G>A	0.0	4000	MELANOMA	-	-	-	-	DOK6	uc002lkl.3,p.M241I|ENST00000382713,p.M241I|NM_152721,p.M241I	protein_coding, processed_transcript	uc002lkl.3	nonsynonymous SNV	exon6	c.G723A	p.M241I	AIAEQHERLMLEMEQKARLQTSLTE	AIAEQHERLMLEIEQKARLQTSLTE	2.0	8.0	unscreened	-	4000_18:67406324-67406324 G>A_AIAEQHERLMLEIEQKARLQTSLTE
17:72278087-72278087 G>A	0.0	4000	MELANOMA	-	-	-	-	DNAI2	ENST00000582036,p.R44Q|ENST00000579055,p.R44Q|NM_001172810,p.R44Q|ENST00000446837,p.R44Q|NM_023036,p.R44Q|ENST00000311014,p.R44Q|uc002jkg.3,p.R44Q|uc002jkf.3,p.R44Q|ENST00000579490,p.R101Q	retained_intron, protein_coding, nonsense_mediated_decay	uc002jkg.3	nonsynonymous SNV	exon2	c.G131A	p.R44Q	MPNPELAEQFVERNPVDTGIQCSIS	MPNPELAEQFVEQNPVDTGIQCSIS	1.0	8.0	unscreened	-	4000_17:72278087-72278087 G>A_MPNPELAEQFVEQNPVDTGIQCSIS
7:94043219-94043219 G>A	0.0	4000	MELANOMA	-	-	-	-	COL1A2	ENST00000297268,p.G542E|NM_000089,p.G542E|uc003ung.1,p.G542E	retained_intron, protein_coding	uc003ung.1	nonsynonymous SNV	exon28	c.G1625A	p.G542E	AQGPPGPQGVQGGKGEQGPPGPPGF	AQGPPGPQGVQGEKGEQGPPGPPGF	9.0	5.0	unscreened	-	4000_7:94043219-94043219 G>A_AQGPPGPQGVQGEKGEQGPPGPPGF
11:60183448-60183448 C>T	0.0	4000	MELANOMA	-	-	-	-	MS4A14	NM_001261828,p.P369L|uc001npi.3,p.P224L|ENST00000395005,p.P319L|NM_001261827,p.P352L|ENST00000531783,p.P369L|uc001npj.3,p.P336L|ENST00000531787,p.P224L|uc001npm.3,p.P74L|uc031qbe.1,p.P352L|NM_032597,p.P336L|uc031qbd.1,p.P369L|NM_001079692,p.P319L|uc001npl.3,p.P74L|ENST00000300187,p.P336L|uc031qbc.1,p.P74L|uc001npk.3,p.P319L|uc001npn.3,p.P74L	protein_coding, nonsense_mediated_decay	uc031qbe.1	nonsynonymous SNV	exon5	c.C1055T	p.P352L	ALPVEGLSEQTMPSKSTSSHVKQSS	ALPVEGLSEQTMLSKSTSSHVKQSS	6.0	6.0	unscreened	-	4000_11:60183448-60183448 C>T_ALPVEGLSEQTMLSKSTSSHVKQSS
X:74598995-74598995 C>T	0.0	4000	MELANOMA	-	-	-	-	ZDHHC15	ENST00000541184,p.E327K|NM_001146256,p.E327K|uc004ech.3,p.E327K|uc004ecg.3,p.E336K|ENST00000373367,p.E336K|NM_144969,p.E336K	protein_coding, processed_transcript	uc004ech.3	nonsynonymous SNV	exon10	c.G979A	p.E327K	YPEGSSSLAVETET	YPEGSSSLAVETKT	3.0	10.0	unscreened	-	4000_X:74598995-74598995 C>T_YPEGSSSLAVETKT
11:5011065-5011065 G>A	0.0	4000	MELANOMA	-	-	-	-	MMP26	uc001lzv.3,p.R96K|ENST00000300762,p.R96K|ENST00000380390,p.R96K|NM_021801,p.R96K	protein_coding, processed_transcript	uc001lzv.3	nonsynonymous SNV	exon2	c.G287A	p.R96K	VPDGSDTSISPGRCKWNKHTLTYRI	VPDGSDTSISPGKCKWNKHTLTYRI	1.0	6.0	unscreened	-	4000_11:5011065-5011065 G>A_VPDGSDTSISPGKCKWNKHTLTYRI
1:57411519-57411519 C>T	0.0	4000	MELANOMA	-	-	-	-	C8B	uc010oon.2,p.M298I|NM_000066,p.M360I|ENST00000543257,p.M308I|ENST00000535057,p.M298I|uc010ooo.2,p.M308I|NM_001278543,p.M308I|ENST00000371237,p.M360I|NM_001278544,p.M298I|uc001cyp.3,p.M360I	retained_intron, protein_coding, processed_transcript	uc010ooo.2	nonsynonymous SNV	exon8	c.G924A	p.M308I	AVLGGIYEYTLVMNKEAMERGDYTL	AVLGGIYEYTLVINKEAMERGDYTL	1.0	6.0	unscreened	-	4000_1:57411519-57411519 C>T_AVLGGIYEYTLVINKEAMERGDYTL
X:37028906-37028906 G>A	0.0	4000	MELANOMA	-	-	-	2	FAM47C	uc004ddl.2,p.R808Q|ENST00000358047,p.R808Q|NM_001013736,p.R808Q	protein_coding	uc004ddl.2	nonsynonymous SNV	exon1	c.G2423A	p.R808Q	VSSLRLEPPKTGRVSSLCPEPTKTG	VSSLRLEPPKTGQVSSLCPEPTKTG	1.0	10.0	unscreened	-	4000_X:37028906-37028906 G>A_VSSLRLEPPKTGQVSSLCPEPTKTG
11:92534077-92534077 C>T	0.0	4000	MELANOMA	-	-	-	2	FAT3	ENST00000298047,p.S2633L|ENST00000409404,p.S2633L|ENST00000525166,p.S2483L|uc001pdj.4,p.S2633L|NM_001008781,p.S2633L	retained_intron, protein_coding, processed_transcript	uc001pdj.4	nonsynonymous SNV	exon9	c.C7898T	p.S2633L	QVQAIDPDDGANSRITYSLYSEASV	QVQAIDPDDGANLRITYSLYSEASV	1.0	9.0	unscreened	-	4000_11:92534077-92534077 C>T_QVQAIDPDDGANLRITYSLYSEASV
4:79385636-79385636 G>A	0.0	4000	MELANOMA	-	-	-	-	FRAS1	ENST00000264895,p.D2310N|NM_025074,p.D2310N|uc003hlb.2,p.D2310N	retained_intron, protein_coding, nonsense_mediated_decay	uc003hlb.2	nonsynonymous SNV	exon49	c.G6928A	p.D2310N	TQTFHITLHPVDDSLPVVQNLGMRV	TQTFHITLHPVDNSLPVVQNLGMRV	2.0	9.0	unscreened	-	4000_4:79385636-79385636 G>A_TQTFHITLHPVDNSLPVVQNLGMRV
2:186673015-186673015 G>A	0.0	4000	MELANOMA	-	-	ID=COSM1752178,COSM1752177;OCCURENCE=2(urinary_tract)	-	FSIP2	ENST00000343098,p.E6417K|uc002upl.3,p.E6417K|NM_173651,p.E6417K|ENST00000424728,p.E6328K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon17	c.G19249A	p.E6417K	VKIMEKVIKIIDELKSKEKSSSRKG	VKIMEKVIKIIDKLKSKEKSSSRKG	2.0	2.0	unscreened	-	4000_2:186673015-186673015 G>A_VKIMEKVIKIIDKLKSKEKSSSRKG
5:40936580-40936580 G>A	0.0	4000	MELANOMA	-	-	-	-	C7	NM_000587,p.G141R|uc003jmh.3,p.G141R|ENST00000313164,p.G141R	retained_intron, protein_coding, processed_transcript	uc003jmh.3	nonsynonymous SNV	exon5	c.G421A	p.G141R	DIDKPPPNIELTGNGYNELTGQFRN	DIDKPPPNIELTRNGYNELTGQFRN	7.0	7.0	unscreened	-	4000_5:40936580-40936580 G>A_DIDKPPPNIELTRNGYNELTGQFRN
18:44159664-44159664 C>T	0.0	4000	MELANOMA	-	-	-	-	LOXHD1	ENST00000441551,p.D580N|ENST00000398722,p.D302N|uc010xcw.1,p.D580N|uc002lcg.1,p.D302N|ENST00000536736,p.D580N|NM_144612,p.D580N	retained_intron, protein_coding, nonsense_mediated_decay	uc010xcw.1	nonsynonymous SNV	exon13	c.G1738A	p.D580N	GTDANVYLCLFGDVGDTGERLLYNC	GTDANVYLCLFGNVGDTGERLLYNC	1.0	3.0	unscreened	-	4000_18:44159664-44159664 C>T_GTDANVYLCLFGNVGDTGERLLYNC
3:126219638-126219638 G>A	0.0	4000	MELANOMA	-	-	-	-	UROC1	NM_144639,p.P349S|uc003eiz.2,p.P349S|ENST00000383579,p.P409S|NM_001165974,p.P409S|ENST00000290868,p.P349S|uc010hsi.2,p.P409S	protein_coding	uc010hsi.2	nonsynonymous SNV	exon12	c.C1225T	p.P409S	VDLGSDQTSCHNPFNGGYYPVQLSF	VDLGSDQTSCHNSFNGGYYPVQLSF	1.0	7.0	unscreened	-	4000_3:126219638-126219638 G>A_VDLGSDQTSCHNSFNGGYYPVQLSF
7:135292000-135292000 T>G	1.0	4000	MELANOMA	-	-	-	-	NUP205	uc003vsw.3,p.L1026V|ENST00000285968,p.L1026V|NM_015135,p.L1026V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vsw.3	nonsynonymous SNV	exon22	c.T3076G	p.L1026V	PVSTTNLQDPGVLGCPRTCLHAILN	PVSTTNLQDPGVVGCPRTCLHAILN	9.0	3.0	-	-	4000_7:135292000-135292000 T>G_PVSTTNLQDPGVVGCPRTCLHAILN
19:45895296-45895296 G>A	0.0	4000	MELANOMA	-	-	-	-	PPP1R13L	ENST00000360957,p.R553C|ENST00000418234,p.R553C|uc002pbm.3,p.R132C|uc002pbo.3,p.R553C|NM_006663,p.R553C|uc002pbn.3,p.R553C|NM_001142502,p.R553C	retained_intron, protein_coding	uc002pbo.3	nonsynonymous SNV	exon8	c.C1657T	p.R553C	KQYQQIISRLFHRHGGPGPGGPEPE	KQYQQIISRLFHCHGGPGPGGPEPE	6.0	7.0	unscreened	-	4000_19:45895296-45895296 G>A_KQYQQIISRLFHCHGGPGPGGPEPE
5:140536009-140536009 G>A	0.0	4000	MELANOMA	-	-	-	-	PCDHB17	uc003lis.3,p.E144K|ENST00000539533,p.E145K	protein_coding	uc003lis.3	nonsynonymous SNV	exon1	c.G430A	p.E144K	EFLENEILLKISEGSHPGTSFPLKI	EFLENEILLKISKGSHPGTSFPLKI	1.0	1.0	unscreened	-	4000_5:140536009-140536009 G>A_EFLENEILLKISKGSHPGTSFPLKI
1:171033342-171033342 C>T	0.0	4000	MELANOMA	-	-	-	-	MROH9	uc010plz.2,p.P816L|ENST00000367759,p.P816L|NM_001163629,p.P816L	protein_coding	uc010plz.2	nonsynonymous SNV	exon22	c.C2447T	p.P816L	IFKKKAHKLTSAPLKQNFQKLLKLF	IFKKKAHKLTSALLKQNFQKLLKLF	2.0	2.0	unscreened	-	4000_1:171033342-171033342 C>T_IFKKKAHKLTSALLKQNFQKLLKLF
3:130095536-130095536 A>G	0.0	4000	MELANOMA	-	-	-	-	COL6A5	uc010htk.2,p.E175G|NM_153264,p.E175G|ENST00000312481,p.E175G|NM_001278298,p.E175G|uc010htj.2,p.E175G|ENST00000265379,p.E175G|ENST00000432398,p.E175G	protein_coding, nonsense_mediated_decay	uc010htk.2	nonsynonymous SNV	exon3	c.A524G	p.E175G	KIISVGVQKASEENLKAMATSHFHF	KIISVGVQKASEGNLKAMATSHFHF	5.0	8.0	unscreened	-	4000_3:130095536-130095536 A>G_KIISVGVQKASEGNLKAMATSHFHF
17:38991018-38991018 C>T	0.0	4000	MELANOMA	-	-	-	-	TMEM99	uc021txc.1,p.L84F|NM_145274,p.L84F|ENST00000436612,p.L84F|NM_001195387,p.L84F|uc021txe.1,p.L84F|uc021txd.1,p.L84F|NM_001195386,p.L84F|uc002hvj.1,p.L84F|ENST00000301665,p.L84F	protein_coding, processed_transcript	uc021txe.1	nonsynonymous SNV	exon1	c.C250T	p.L84F	ELFSFLRYLGTLLCACGHRLREGLL	ELFSFLRYLGTLFCACGHRLREGLL	3.0	7.0	unscreened	-	4000_17:38991018-38991018 C>T_ELFSFLRYLGTLFCACGHRLREGLL
17:12626254-12626254 G>A	0.0	4000	MELANOMA	-	-	-	-	MYOCD	ENST00000343344,p.R115Q|uc002gno.2,p.R115Q|NM_153604,p.R115Q|ENST00000425538,p.R115Q|uc002gnp.1,p.R19Q|uc002gnn.2,p.R115Q|ENST00000395988,p.R19Q|NM_001146312,p.R115Q	protein_coding, nonsense_mediated_decay	uc002gnp.1	nonsynonymous SNV	exon2	c.G56A	p.R19Q	RLADDLNEKIALRPGPLELVEKNIL	RLADDLNEKIALQPGPLELVEKNIL	1.0	6.0	unscreened	-	4000_17:12626254-12626254 G>A_RLADDLNEKIALQPGPLELVEKNIL
8:113504747-113504747 C>T	0.0	4000	MELANOMA	-	-	-	2	CSMD3	uc003yns.3,p.G1022E|ENST00000343508,p.G1710E|NM_198123,p.G1750E|NM_052900,p.G1646E|ENST00000339701,p.G1090E|ENST00000352409,p.G1750E|uc003ynt.3,p.G1710E|ENST00000297405,p.G1750E|uc011lhx.2,p.G1646E|ENST00000455883,p.G1646E|NM_198124,p.G1710E|uc003ynu.3,p.G1750E	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon30	c.G4937A	p.G1646E	TLTCIMGDDGRPGWNRALPSCHAPC	TLTCIMGDDGRPEWNRALPSCHAPC	1.0	2.0	unscreened	-	4000_8:113504747-113504747 C>T_TLTCIMGDDGRPEWNRALPSCHAPC
16:52092287-52092287 C>T	0.0	4000	MELANOMA	-	-	-	-	C16orf97	NM_001242473,p.E51K|ENST00000562818,p.E51K|uc021tih.1,p.E51K	retained_intron, protein_coding, processed_transcript	uc021tih.1	nonsynonymous SNV	exon2	c.G151A	p.E51K	WTTPFQCKILMVEFIVGFYDFCLAL	WTTPFQCKILMVKFIVGFYDFCLAL	1.0	4.0	unscreened	-	4000_16:52092287-52092287 C>T_WTTPFQCKILMVKFIVGFYDFCLAL
12:10034198-10034198 G>A	0.0	4000	MELANOMA	-	-	-	-	KLRF2	NM_001190765,p.E2K|ENST00000535540,p.E2K|uc021quy.1,p.E2K	protein_coding	uc021quy.1	nonsynonymous SNV	exon1	c.G4A	p.E2K	MENEDGYMTLSFKN	MKNEDGYMTLSFKN	2.0	1.0	unscreened	-	4000_12:10034198-10034198 G>A_MKNEDGYMTLSFKN
16:88495845-88495845 C>T	0.0	4000	MELANOMA	-	-	-	-	ZNF469	uc002fku.2,p.S656F|ENST00000437464,p.S656F|ENST00000565624,p.S656F|NM_001127464,p.S656F	protein_coding	uc002fku.2	nonsynonymous SNV	exon1	c.C1967T	p.S656F	TGSPFPSPEPPHSLPTHYQPEPAKA	TGSPFPSPEPPHFLPTHYQPEPAKA	4.0	9.0	unscreened	-	4000_16:88495845-88495845 C>T_TGSPFPSPEPPHFLPTHYQPEPAKA
20:9404495-9404495 G>A	0.0	4000	MELANOMA	-	-	-	-	PLCB4	ENST00000378493,p.G795E|NM_000933,p.G795E|uc002wnh.3,p.G642E|uc010gbx.3,p.G807E|ENST00000278655,p.G795E|uc010gbw.1,p.G795E|ENST00000334005,p.G795E|uc021wal.1,p.G795E|NM_182797,p.G795E|ENST00000414679,p.G807E|uc021wam.1,p.G795E|ENST00000378501,p.G795E|NM_001172646,p.G807E|ENST00000378473,p.G807E	protein_coding, processed_transcript	uc021wam.1	nonsynonymous SNV	exon24	c.G2384A	p.G795E	GQRILPLDGLQAGYRHISLRNEGNK	GQRILPLDGLQAEYRHISLRNEGNK	2.0	7.0	unscreened	-	4000_20:9404495-9404495 G>A_GQRILPLDGLQAEYRHISLRNEGNK
3:85932485-85932485 G>A	0.0	4000	MELANOMA	-	-	-	-	CADM2	NM_153184,p.E88K|ENST00000407528,p.E86K|ENST00000405615,p.E88K|uc003dql.3,p.E88K|uc003dqj.3,p.E86K|ENST00000383699,p.E95K|uc003dqk.3,p.E95K|NM_001167674,p.E86K|NM_001167675,p.E95K	protein_coding, processed_transcript	uc003dql.3	nonsynonymous SNV	exon3	c.G262A	p.E88K	DNRIELVRASWHELSISVSDVSLSD	DNRIELVRASWHKLSISVSDVSLSD	3.0	5.0	unscreened	-	4000_3:85932485-85932485 G>A_DNRIELVRASWHKLSISVSDVSLSD
2:84924777-84924777 G>A	0.0	4000	MELANOMA	-	-	-	-	DNAH6	ENST00000398278,p.E2486K|uc002sor.3,p.E507K|NM_001370,p.E2535K|ENST00000237449,p.E2535K|ENST00000389394,p.E2535K|uc010fgb.3,p.E2535K|ENST00000602588,p.E507K	retained_intron, protein_coding, processed_transcript	uc010fgb.3	nonsynonymous SNV	exon47	c.G7603A	p.E2535K	NSGEVPNLFEKDELEQVLAATRPRA	NSGEVPNLFEKDKLEQVLAATRPRA	4.0	9.0	unscreened	-	4000_2:84924777-84924777 G>A_NSGEVPNLFEKDKLEQVLAATRPRA
11:7960151-7960151 C>T	0.0	4000	MELANOMA	0.0005	-	ID=COSM1218488;OCCURENCE=1(large_intestine),1(liver)	-	OR10A3	ENST00000360759,p.R306Q|NM_001003745,p.R306Q|uc010rbi.2,p.R306Q	protein_coding	uc010rbi.2	nonsynonymous SNV	exon1	c.G917A	p.R306Q	NSEMKRTLIKLWRRKVILHTF	NSEMKRTLIKLWQRKVILHTF	1.0	4.0	unscreened	-	4000_11:7960151-7960151 C>T_NSEMKRTLIKLWQRKVILHTF
6:30919762-30919762 C>T	0.0	4000	MELANOMA	-	-	ID=COSM3410928,COSM3410929;OCCURENCE=1(central_nervous_system)	-	DPCR1	NM_080870,p.T1174M|ENST00000462446,p.T1174M|uc003nsg.2,p.T1174M|ENST00000304311,p.T16M	protein_coding	uc003nsg.2	nonsynonymous SNV	exon2	c.C3521T	p.T1174M	VTEKSTEHPEKTTSTTEKTTRTPEK	VTEKSTEHPEKTMSTTEKTTRTPEK	1.0	2.0	unscreened	-	4000_6:30919762-30919762 C>T_VTEKSTEHPEKTMSTTEKTTRTPEK
3:55038833-55038833 G>A	0.0	4000	MELANOMA	-	-	-	-	CACNA2D3	ENST00000474759,p.E912K|ENST00000288197,p.E912K|ENST00000490478,p.E818K|NM_018398,p.E912K|uc003dhg.1,p.E818K|ENST00000415676,p.E912K|uc003dhf.3,p.E912K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003dhg.1	nonsynonymous SNV	exon31	c.G2452A	p.E818K	LYDYQAMCRANKESSDGAHGLLDPY	LYDYQAMCRANKKSSDGAHGLLDPY	1.0	8.0	unscreened	-	4000_3:55038833-55038833 G>A_LYDYQAMCRANKKSSDGAHGLLDPY
19:53553021-53553021 G>A	0.0	4000	MELANOMA	-	-	-	-	ERVV-2	NM_001191055,p.D173N|ENST00000601417,p.D173N|uc031rmt.1,p.D173N|uc021uzd.1,p.D173N	protein_coding	uc031rmt.1	nonsynonymous SNV	exon1	c.G517A	p.D173N	NLTHWCPAKQMNDYRDKSPQNRCAA	NLTHWCPAKQMNNYRDKSPQNRCAA	1.0	10.0	unscreened	-	4000_19:53553021-53553021 G>A_NLTHWCPAKQMNNYRDKSPQNRCAA
19:46526143-46526143 C>T	0.0	4000	MELANOMA	-	-	-	-	PGLYRP1	uc002pdx.2,p.C46Y|ENST00000008938,p.C46Y|NM_005091,p.C46Y	protein_coding	uc002pdx.2	nonsynonymous SNV	exon1	c.G137A	p.C46Y	VPRNEWKALASECAQHLSLPLRYVV	VPRNEWKALASEYAQHLSLPLRYVV	1.0	3.0	unscreened	-	4000_19:46526143-46526143 C>T_VPRNEWKALASEYAQHLSLPLRYVV
5:140789205-140789205 C>T	0.0	4000	MELANOMA	-	-	-	-	PCDHGB6	ENST00000520790,p.P479L|NM_032100,p.P479L|uc003lki.1,p.P479L|uc003lkj.2,p.P479L|NM_018926,p.P479L	protein_coding	uc003lkj.2	nonsynonymous SNV	exon1	c.C1436T	p.P479L	PGASIAQVSASDPDLGLNGHISYSI	PGASIAQVSASDLDLGLNGHISYSI	5.0	1.0	unscreened	-	4000_5:140789205-140789205 C>T_PGASIAQVSASDLDLGLNGHISYSI
7:2968280-2968280 C>T	0.0	4000	MELANOMA	-	-	-	1	CARD11	ENST00000355508,p.G40E|uc003smv.3,p.G569E|ENST00000396946,p.G569E|NM_032415,p.G569E	retained_intron, protein_coding	uc003smv.3	nonsynonymous SNV	exon13	c.G1706A	p.G569E	RSSIMSITAEPPGNDSIVRRYKEDA	RSSIMSITAEPPENDSIVRRYKEDA	7.0	2.0	unscreened	-	4000_7:2968280-2968280 C>T_RSSIMSITAEPPENDSIVRRYKEDA
2:187360048-187360048 A>G	1.0	4000	MELANOMA	-	-	-	-	ZC3H15	ENST00000421536,p.Q55R|uc002upo.3,p.Q55R|ENST00000337859,p.Q55R|NM_018471,p.Q55R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upo.3	nonsynonymous SNV	exon2	c.A164G	p.Q55R	IKAVTHQVKFGQQNPRQVAQSEAEK	IKAVTHQVKFGQRNPRQVAQSEAEK	10.0	4.0	-	-	4000_2:187360048-187360048 A>G_IKAVTHQVKFGQRNPRQVAQSEAEK
16:71218881-71218881 C>T	0.0	4000	MELANOMA	-	-	-	-	HYDIN	NM_001270974,p.E50K|NM_001198543,p.E67K|NM_001198542,p.E77K|ENST00000538248,p.E77K|ENST00000448691,p.E50K|uc031qwy.1,p.E50K|ENST00000541601,p.E67K|uc010vmd.2,p.E77K|uc010vmc.2,p.E67K|ENST00000393567,p.E50K|ENST00000393550,p.E50K|ENST00000288168,p.E67K|uc002ezw.4,p.E67K|uc021tkq.2,p.E50K|ENST00000448089,p.E50K|ENST00000321489,p.E50K|NM_017558,p.E50K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon3	c.G148A	p.E50K	TEEEVNRMLTPSEFLKEMSLTTEQR	TEEEVNRMLTPSKFLKEMSLTTEQR	3.0	6.0	unscreened	-	4000_16:71218881-71218881 C>T_TEEEVNRMLTPSKFLKEMSLTTEQR
11:101762138-101762138 G>A	0.0	4000	MELANOMA	-	-	-	-	ANGPTL5	NM_178127,p.H347Y|uc001pgl.3,p.H347Y|ENST00000334289,p.H347Y	protein_coding	uc001pgl.3	nonsynonymous SNV	exon9	c.C1039T	p.H347Y	FNECGLANLNGIHHFSGKLLATGIQ	FNECGLANLNGIYHFSGKLLATGIQ	1.0	7.0	unscreened	-	4000_11:101762138-101762138 G>A_FNECGLANLNGIYHFSGKLLATGIQ
4:73013182-73013182 G>A	0.0	4000	MELANOMA	-	-	ID=COSM1540886;OCCURENCE=1(lung)	-	NPFFR2	ENST00000395999,p.E309K|uc003hgi.2,p.E309K|ENST00000358749,p.E306K|uc003hgh.2,p.E306K|ENST00000308744,p.E408K|NM_004885,p.E408K|NM_053036,p.E306K|uc003hgg.2,p.E408K|uc010iig.2,p.E190K|NM_001144756,p.E309K	protein_coding, processed_transcript	uc010iig.2	nonsynonymous SNV	exon3	c.G568A	p.E190K	MMLSDYADLSPNELQIINIYIYPFA	MMLSDYADLSPNKLQIINIYIYPFA	1.0	7.0	unscreened	-	4000_4:73013182-73013182 G>A_MMLSDYADLSPNKLQIINIYIYPFA
11:61295513-61295513 C>T	0.0	4000	MELANOMA	-	-	-	-	SYT7	NM_004200,p.D166N|ENST00000263846,p.D166N|NM_001300773,p.D210N|ENST00000542836,p.D210N|uc001nrv.3,p.D166N|ENST00000542670,p.D374N|ENST00000539008,p.D449N|ENST00000540677,p.D241N|uc009ynr.3,p.D241N|ENST00000535826,p.D285N|NM_001252065,p.D241N	protein_coding, processed_transcript, nonsense_mediated_decay	uc009ynr.3	nonsynonymous SNV	exon6	c.G721A	p.D241N	VKIMKAQELPAKDFSGTSDPFVKIY	VKIMKAQELPAKNFSGTSDPFVKIY	3.0	4.0	unscreened	-	4000_11:61295513-61295513 C>T_VKIMKAQELPAKNFSGTSDPFVKIY
11:64825352-64825352 G>A	0.0	4000	MELANOMA	-	-	-	-	NAALADL1	ENST00000355369,p.P159S|ENST00000356632,p.P159S|ENST00000358658,p.P159S|uc001ocn.3,p.P159S|NM_005468,p.P159S|ENST00000340252,p.P159S|ENST00000339885,p.P159S	retained_intron, protein_coding, nonsense_mediated_decay	uc001ocn.3	nonsynonymous SNV	exon3	c.C475T	p.P159S	VQPYAAYAPSGTPQGLLVYANRGAE	VQPYAAYAPSGTSQGLLVYANRGAE	5.0	4.0	unscreened	-	4000_11:64825352-64825352 G>A_VQPYAAYAPSGTSQGLLVYANRGAE
7:82583992-82583992 C>T	0.0	4000	MELANOMA	-	-	-	-	PCLO	NM_014510,p.E2093K|uc003uhx.2,p.E2093K|NM_033026,p.E2093K|uc003uhv.2,p.E2093K|ENST00000333891,p.E2093K|ENST00000423517,p.E2093K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon5	c.G6277A	p.E2093K	SPTQAPIGEDMTESTMDFDRMPDAS	SPTQAPIGEDMTKSTMDFDRMPDAS	5.0	8.0	unscreened	-	4000_7:82583992-82583992 C>T_SPTQAPIGEDMTKSTMDFDRMPDAS
9:139637265-139637265 C>T	0.0	4000	MELANOMA	-	-	-	-	LCN10	ENST00000532006,p.E31K	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000532006	nonsynonymous SNV	exon1	c.G91A	p.E31K	AAGSQVQEWYPRESHALNWNKGQEE	AAGSQVQEWYPRKSHALNWNKGQEE	4.0	9.0	unscreened	-	4000_9:139637265-139637265 C>T_AAGSQVQEWYPRKSHALNWNKGQEE
15:65962117-65962117 C>T	0.0	4000	MELANOMA	-	-	-	-	DENND4A	ENST00000443035,p.S1595N|NM_001144823,p.S1595N|ENST00000431932,p.S1552N|uc002aph.3,p.S1552N|NM_005848,p.S1552N|uc002api.3,p.S1595N	retained_intron, protein_coding, processed_transcript	uc002api.3	nonsynonymous SNV	exon27	c.G4784A	p.S1595N	SALSVQGNFDLNSKSKLQENFCTRS	SALSVQGNFDLNNKSKLQENFCTRS	9.0	1.0	unscreened	-	4000_15:65962117-65962117 C>T_SALSVQGNFDLNNKSKLQENFCTRS
8:143436031-143436031 C>T	1.0	4000	MELANOMA	-	-	-	-	TSNARE1	ENST00000519651,p.G19R|NM_001291931,p.G19R|uc003ywl.4,p.G19R	protein_coding, processed_transcript	uc003ywl.4	nonsynonymous SNV	exon2	c.G55A	p.G19R	ARGGGLGSRGPFGGPSRQGCQPLAT	ARGGGLGSRGPFRGPSRQGCQPLAT	7.0	2.0	-	-	4000_8:143436031-143436031 C>T_ARGGGLGSRGPFRGPSRQGCQPLAT
8:143436031-143436031 C>T	1.0	4000	MELANOMA	-	-	-	-	TSNARE1	ENST00000524325,p.G19R|ENST00000520462,p.G19R|uc003ywk.3,p.G19R|uc003ywj.3,p.G19R|ENST00000307180,p.G19R|NM_145003,p.G19R|ENST00000520166,p.G19R|uc011lju.2,p.G19R|ENST00000518720,p.G35R	protein_coding, processed_transcript	uc011lju.2	nonsynonymous SNV	exon1	c.G55A	p.G19R	ARGGGLGSRGPFGGPSRQGCQPLEC	ARGGGLGSRGPFRGPSRQGCQPLEC	7.0	2.0	unscreened	-	4000_8:143436031-143436031 C>T_ARGGGLGSRGPFRGPSRQGCQPLEC
2:88425841-88425841 C>T	0.0	4000	MELANOMA	-	-	-	-	FABP1	ENST00000393750,p.G32R|uc002sst.2,p.G32R|ENST00000295834,p.G32R|NM_001443,p.G32R	retained_intron, protein_coding, processed_transcript	uc002sst.2	nonsynonymous SNV	exon2	c.G94A	p.G32R	KAIGLPEELIQKGKDIKGVSEIVQN	KAIGLPEELIQKRKDIKGVSEIVQN	1.0	1.0	unscreened	-	4000_2:88425841-88425841 C>T_KAIGLPEELIQKRKDIKGVSEIVQN
20:9404494-9404494 G>A	0.0	4000	MELANOMA	-	-	-	-	PLCB4	uc021wam.1,p.G795R|ENST00000378493,p.G795R|NM_182797,p.G795R|uc021wal.1,p.G795R|NM_001172646,p.G807R|ENST00000414679,p.G807R|uc002wnh.3,p.G642R|ENST00000334005,p.G795R|uc010gbx.3,p.G807R|NM_000933,p.G795R|ENST00000278655,p.G795R|ENST00000378473,p.G807R|ENST00000378501,p.G795R|uc010gbw.1,p.G795R	protein_coding, processed_transcript	uc021wam.1	nonsynonymous SNV	exon24	c.G2383A	p.G795R	GQRILPLDGLQAGYRHISLRNEGNK	GQRILPLDGLQARYRHISLRNEGNK	2.0	7.0	unscreened	-	4000_20:9404494-9404494 G>A_GQRILPLDGLQARYRHISLRNEGNK
12:81013978-81013978 A>T	0.0	4000	MELANOMA	-	-	-	-	PTPRQ	ENST00000266688,p.N1808I	retained_intron, protein_coding, processed_transcript	ENST00000266688	nonsynonymous SNV	exon37	c.A5423T	p.N1808I	DGNVTKWYDAYFNKARPYFTNEGFP	DGNVTKWYDAYFIKARPYFTNEGFP	1.0	9.0	unscreened	-	4000_12:81013978-81013978 A>T_DGNVTKWYDAYFIKARPYFTNEGFP
7:142572906-142572906 C>T	0.0	4000	MELANOMA	-	-	-	-	TRPV6	ENST00000359396,p.M378I|uc010lou.1,p.M249I|uc003wbw.1,p.M164I|uc003wbx.2,p.M378I	retained_intron, protein_coding	uc010lou.1	nonsynonymous SNV	exon6	c.G747A	p.M249I	TLLQQKLLQEAYMTPKDDIRLVGEL	TLLQQKLLQEAYITPKDDIRLVGEL	1.0	2.0	unscreened	-	4000_7:142572906-142572906 C>T_TLLQQKLLQEAYITPKDDIRLVGEL
11:17418557-17418557 C>T	0.0	4000	MELANOMA	-	-	-	-	ABCC8	ENST00000302539,p.G1343E|uc001mnc.3,p.G1342E|NM_001287174,p.G1343E|NM_000352,p.G1342E|ENST00000389817,p.G1342E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001mnc.3	nonsynonymous SNV	exon33	c.G4025A	p.G1342E	APSLIPKNWPDQGKIQIQNLSVRYD	APSLIPKNWPDQEKIQIQNLSVRYD	1.0	3.0	unscreened	-	4000_11:17418557-17418557 C>T_APSLIPKNWPDQEKIQIQNLSVRYD
5:169533341-169533341 C>T	0.0	4000	MELANOMA	-	-	-	-	FOXI1	NM_012188,p.S127F|uc003maj.4,p.S127F|ENST00000449804,p.S127F|uc003mai.4,p.S127F|ENST00000306268,p.S127F|NM_144769,p.S127F	protein_coding	uc003maj.4	nonsynonymous SNV	exon1	c.C380T	p.S127F	QEELMKLVRPPYSYSALIAMAIHGA	QEELMKLVRPPYFYSALIAMAIHGA	1.0	7.0	unscreened	-	4000_5:169533341-169533341 C>T_QEELMKLVRPPYFYSALIAMAIHGA
17:9739745-9739745 G>A	0.0	4000	MELANOMA	-	-	-	-	GLP2R	uc002gmd.1,p.G112E|NM_004246,p.G112E|ENST00000262441,p.G112E	protein_coding, nonsense_mediated_decay	uc002gmd.1	nonsynonymous SNV	exon3	c.G335A	p.G112E	FDQYVCWPHSSPGNVSVPCPSYLPW	FDQYVCWPHSSPENVSVPCPSYLPW	1.0	8.0	unscreened	-	4000_17:9739745-9739745 G>A_FDQYVCWPHSSPENVSVPCPSYLPW
8:62212733-62212733 C>T	0.0	4000	MELANOMA	-	-	-	-	CLVS1	uc003xug.2,p.P116L|uc003xuh.3,p.P116L|ENST00000519846,p.P116L|NM_173519,p.P116L|ENST00000325897,p.P116L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xuh.3	nonsynonymous SNV	exon2	c.C347T	p.P116L	NLDMFKNFKADDPGIKRALIDGFPG	NLDMFKNFKADDLGIKRALIDGFPG	2.0	2.0	unscreened	-	4000_8:62212733-62212733 C>T_NLDMFKNFKADDLGIKRALIDGFPG
10:18250547-18250547 G>A	0.0	4000	MELANOMA	-	-	-	-	SLC39A12	NM_152725,p.G100E|uc001ipn.2,p.G100E|NM_001145195,p.G100E|ENST00000377369,p.G100E|uc001ipo.2,p.G100E|ENST00000377374,p.G100E|NM_001282733,p.G100E|uc001ipp.2,p.G100E|ENST00000377371,p.G100E	protein_coding	uc001ipp.2	nonsynonymous SNV	exon3	c.G299A	p.G100E	CFEPDALLLIAGGNFEDQLREEVVQ	CFEPDALLLIAGENFEDQLREEVVQ	1.0	9.0	unscreened	-	4000_10:18250547-18250547 G>A_CFEPDALLLIAGENFEDQLREEVVQ
2:125261885-125261885 C>T	0.0	4000	MELANOMA	-	-	-	-	CNTNAP5	uc010flu.3,p.S360F	retained_intron, protein_coding, processed_transcript	uc010flu.3	nonsynonymous SNV	exon8	c.C1079T	p.S360F	KHQIYTVGNVTFSCSEPQIVPITFV	KHQIYTVGNVTFFCSEPQIVPITFV	1.0	6.0	unscreened	-	4000_2:125261885-125261885 C>T_KHQIYTVGNVTFFCSEPQIVPITFV
13:28959055-28959055 A>G	0.0	4000	MELANOMA	-	-	-	-	FLT1	NM_002019,p.F695L|uc001usb.3,p.F695L|ENST00000282397,p.F695L	protein_coding	uc001usb.3	nonsynonymous SNV	exon14	c.T2083C	p.F695L	HANGVPEPQITWFKNNHKIQQEPGI	HANGVPEPQITWLKNNHKIQQEPGI	7.0	2.0	unscreened	-	4000_13:28959055-28959055 A>G_HANGVPEPQITWLKNNHKIQQEPGI
2:1926930-1926930 G>A	0.0	4000	MELANOMA	-	-	-	-	MYT1L	ENST00000428368,p.S204L|uc002qxe.3,p.S204L|NM_015025,p.S204L|ENST00000399161,p.S204L|uc002qxd.3,p.S204L	retained_intron, protein_coding, processed_transcript	uc002qxe.3	nonsynonymous SNV	exon10	c.C611T	p.S204L	DEYDNYDELVAKSLLNLGKIAEDAA	DEYDNYDELVAKLLLNLGKIAEDAA	1.0	8.0	unscreened	-	4000_2:1926930-1926930 G>A_DEYDNYDELVAKLLLNLGKIAEDAA
6:54254647-54254647 G>A	0.0	4000	MELANOMA	0.0005	-	-	-	TINAG	uc003pcj.2,p.R452Q|ENST00000259782,p.R452Q|NM_014464,p.R452Q	protein_coding, processed_transcript	uc003pcj.2	nonsynonymous SNV	exon11	c.G1355A	p.R452Q	KSWGENGYFRILRGVNESDIEKLII	KSWGENGYFRILQGVNESDIEKLII	1.0	2.0	unscreened	-	4000_6:54254647-54254647 G>A_KSWGENGYFRILQGVNESDIEKLII
9:8341914-8341914 C>T	0.0	4000	MELANOMA	-	-	-	-	PTPRD	ENST00000355233,p.E1170K|ENST00000381196,p.E1576K|ENST00000486161,p.E1169K|ENST00000397611,p.E1166K|uc003zkq.3,p.E1169K|uc003zkk.3,p.E1576K|ENST00000397606,p.E1169K|uc003zkp.3,p.E1170K|NM_001171025,p.E1169K|NM_002839,p.E1576K|uc003zks.3,p.E1169K|ENST00000540109,p.E1576K|uc003zkr.3,p.E1160K|ENST00000356435,p.E1576K|uc022bdj.1,p.E1166K|NM_130393,p.E1160K|NM_130391,p.E1169K|NM_130392,p.E1170K|ENST00000537002,p.E1166K|ENST00000358503,p.E1554K|ENST00000360074,p.E1563K|ENST00000397617,p.E1169K|NM_001040712,p.E1166K	retained_intron, protein_coding, processed_transcript	uc022bdj.1	nonsynonymous SNV	exon24	c.G3496A	p.E1166K	IVIDAMLERIKHEKTVDIYGHVTLM	IVIDAMLERIKHKKTVDIYGHVTLM	5.0	9.0	unscreened	-	4000_9:8341914-8341914 C>T_IVIDAMLERIKHKKTVDIYGHVTLM
2:233348176-233348176 C>T	0.0	4000	MELANOMA	-	-	-	-	ECEL1	uc010fyb.1,p.E193K|ENST00000409941,p.E486K|NM_001290787,p.E486K|uc002vsv.2,p.E486K|ENST00000304546,p.E486K|uc010fya.1,p.E486K|NM_004826,p.E486K	retained_intron, protein_coding	uc010fyb.1	nonsynonymous SNV	exon7	c.G577A	p.E193K	VEDIKYILGQRLEELDWMDAETRAA	VEDIKYILGQRLKELDWMDAETRAA	2.0	2.0	unscreened	-	4000_2:233348176-233348176 C>T_VEDIKYILGQRLKELDWMDAETRAA
3:44762928-44762928 G>A	0.0	4000	MELANOMA	-	-	-	-	ZNF502	NM_001134440,p.G207R|NM_001134442,p.G207R|uc011bab.2,p.G207R|uc011baa.2,p.G207R|NM_001134441,p.G207R|ENST00000296091,p.G207R|ENST00000449836,p.G207R|uc003cnt.3,p.G207R|uc003cns.3,p.G207R|ENST00000436624,p.G207R|NM_001282880,p.G207R|NM_033210,p.G207R	protein_coding	uc011bab.2	nonsynonymous SNV	exon3	c.G619A	p.G207R	SSFLVQHQRIHTGVKPYGCEQCGKT	SSFLVQHQRIHTRVKPYGCEQCGKT	4.0	6.0	unscreened	-	4000_3:44762928-44762928 G>A_SSFLVQHQRIHTRVKPYGCEQCGKT
11:56258842-56258842 C>T	0.0	4000	MELANOMA	-	-	-	-	OR5M8	NM_001005282,p.R2K|ENST00000327216,p.R2K|uc001nix.1,p.R2K	protein_coding	uc001nix.1	nonsynonymous SNV	exon1	c.G5A	p.R2K	MRRNCTLVTEFILL	MKRNCTLVTEFILL	1.0	9.0	unscreened	-	4000_11:56258842-56258842 C>T_MKRNCTLVTEFILL
1:222713606-222713606 G>A	0.0	4000	MELANOMA	0.0009	-	-	-	HHIPL2	ENST00000343410,p.S399L|uc001hnh.1,p.S399L|NM_024746,p.S399L	protein_coding, processed_transcript	uc001hnh.1	nonsynonymous SNV	exon4	c.C1196T	p.S399L	RAGSHGKRYRVPSDNPFVSEPGAHP	RAGSHGKRYRVPLDNPFVSEPGAHP	1.0	8.0	unscreened	-	4000_1:222713606-222713606 G>A_RAGSHGKRYRVPLDNPFVSEPGAHP
10:55591202-55591202 C>T	0.0	4000	MELANOMA	-	-	-	-	PCDH15	uc010qhw.1,p.A1322T|uc010qhr.2,p.A1359T|ENST00000437009,p.A1288T|uc010qia.1,p.A1337T|uc021pqx.1,p.A1359T|ENST00000320301,p.A1359T|uc021pqy.1,p.A1359T|ENST00000395433,p.A1337T|NM_001142767,p.A1322T|uc010qht.2,p.A1366T|NM_001142773,p.A1337T|NM_001142766,p.A1359T|ENST00000361849,p.A1359T|uc010qhv.1,p.A1359T|ENST00000414778,p.A1364T|uc010qhq.2,p.A1364T|NM_001142763,p.A1364T|uc001jju.1,p.A1359T|uc021pqw.1,p.A1371T|ENST00000395445,p.A1366T|ENST00000395432,p.A1322T|uc010qhx.1,p.A1288T|NM_001142764,p.A1359T|NM_001142768,p.A1337T|ENST00000409834,p.A970T|uc010qhz.1,p.A1359T|uc021pqv.1,p.A1359T|uc010qhy.1,p.A1364T|uc021pqz.1,p.A1337T|ENST00000395438,p.A1359T|uc010qib.1,p.A1337T|ENST00000395430,p.A1359T|ENST00000373965,p.A1366T|NM_001142765,p.A1288T|NM_033056,p.A1359T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqz.1	nonsynonymous SNV	exon28	c.G4009A	p.A1337T	EGGRILEIRTPEAVTSIKKRGESLG	EGGRILEIRTPETVTSIKKRGESLG	1.0	4.0	unscreened	-	4000_10:55591202-55591202 C>T_EGGRILEIRTPETVTSIKKRGESLG
6:32026096-32026096 C>T	0.0	4000	MELANOMA	-	-	-	-	TNXB	ENST00000375244,p.E2522K|NM_019105,p.E2522K|ENST00000375247,p.E2522K|uc003nzl.2,p.E2522K	retained_intron, protein_coding	uc003nzl.2	nonsynonymous SNV	exon22	c.G7564A	p.E2522K	TEPGTEAPGPPEEPLLGELTVTGSS	TEPGTEAPGPPEKPLLGELTVTGSS	5.0	2.0	unscreened	-	4000_6:32026096-32026096 C>T_TEPGTEAPGPPEKPLLGELTVTGSS
20:40979350-40979350 C>T	0.0	4000	MELANOMA	-	-	-	1	PTPRT	ENST00000373190,p.D595N|ENST00000373187,p.D595N|ENST00000373184,p.D595N|NM_133170,p.D595N|uc010ggj.3,p.D595N|uc002xkg.3,p.D595N|ENST00000373198,p.D595N|ENST00000373193,p.D595N|ENST00000373201,p.D595N|NM_007050,p.D595N|ENST00000356100,p.D595N	protein_coding, processed_transcript	uc010ggj.3	nonsynonymous SNV	exon11	c.G1783A	p.D595N	ATKISAPSMPEYDTDTPLNETDTTI	ATKISAPSMPEYNTDTPLNETDTTI	1.0	1.0	unscreened	-	4000_20:40979350-40979350 C>T_ATKISAPSMPEYNTDTPLNETDTTI
5:35654772-35654772 G>A	1.0	4000	MELANOMA	-	-	-	-	SPEF2	uc003jjo.3,p.E308K|ENST00000440995,p.E308K|ENST00000356031,p.E308K|ENST00000509059,p.E308K|ENST00000282469,p.E308K|NM_144722,p.E308K|uc003jjq.4,p.E308K|NM_024867,p.E308K|uc003jjn.1,p.E308K	retained_intron, protein_coding, nonsense_mediated_decay	uc003jjq.4	nonsynonymous SNV	exon7	c.G922A	p.E308K	RLEEDAFAREQREKRRRKLLMDQLI	RLEEDAFAREQRKKRRRKLLMDQLI	6.0	6.0	-	-	4000_5:35654772-35654772 G>A_RLEEDAFAREQRKKRRRKLLMDQLI
10:87484330-87484330 T>C	0.0	4000	MELANOMA	-	-	-	-	GRID1	NM_017551,p.K546R|uc001kdl.1,p.K546R|ENST00000464741,p.K546R|ENST00000327946,p.K546R|ENST00000536331,p.K117R|uc010qmf.1,p.K117R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qmf.1	nonsynonymous SNV	exon4	c.A350G	p.K117R	KRYMDYSVGILIKKPEEKISIFSLF	KRYMDYSVGILIRKPEEKISIFSLF	1.0	8.0	unscreened	-	4000_10:87484330-87484330 T>C_KRYMDYSVGILIRKPEEKISIFSLF
4:165962281-165962281 G>A	0.0	4000	MELANOMA	-	-	-	-	TRIM60	uc021xty.1,p.E353K|NM_001258025,p.E353K|ENST00000512596,p.E353K|ENST00000341062,p.E353K|uc010iqx.2,p.E353K|NM_152620,p.E353K|ENST00000508504,p.E353K|uc003iqy.1,p.E353K	protein_coding	uc021xty.1	nonsynonymous SNV	exon1	c.G1057A	p.E353K	GSQRFSSGRHYWEVEVGNKPKWILG	GSQRFSSGRHYWKVEVGNKPKWILG	1.0	4.0	unscreened	-	4000_4:165962281-165962281 G>A_GSQRFSSGRHYWKVEVGNKPKWILG
6:6225075-6225075 C>T	0.0	4000	MELANOMA	-	-	ID=COSM1080881;OCCURENCE=2(endometrium),1(large_intestine)	-	F13A1	uc003mwv.3,p.E273K|NM_000129,p.E273K|uc011dib.2,p.E210K|ENST00000264870,p.E273K	retained_intron, protein_coding	uc011dib.2	nonsynonymous SNV	exon6	c.G628A	p.E210K	RVGSAMVNAKDDEGVLVGSWDNIYA	RVGSAMVNAKDDKGVLVGSWDNIYA	5.0	2.0	unscreened	-	4000_6:6225075-6225075 C>T_RVGSAMVNAKDDKGVLVGSWDNIYA
13:28959055-28959055 A>G	0.0	4000	MELANOMA	-	-	-	-	FLT1	ENST00000541932,p.F695L|uc010aar.1,p.F695L|NM_001160030,p.F695L	protein_coding	uc010aar.1	nonsynonymous SNV	exon14	c.T2083C	p.F695L	HANGVPEPQITWFKNNHKIQQEPEL	HANGVPEPQITWLKNNHKIQQEPEL	7.0	2.0	unscreened	-	4000_13:28959055-28959055 A>G_HANGVPEPQITWLKNNHKIQQEPEL
4:144619950-144619950 C>T	0.0	4000	MELANOMA	-	-	-	-	FREM3	ENST00000329798,p.E627K|uc021xsj.1,p.E627K|NM_001168235,p.E627K	protein_coding, processed_transcript	uc021xsj.1	nonsynonymous SNV	exon1	c.G1879A	p.E627K	LQQAELPLSTEDEDWHYMEKEGLYE	LQQAELPLSTEDKDWHYMEKEGLYE	1.0	9.0	unscreened	-	4000_4:144619950-144619950 C>T_LQQAELPLSTEDKDWHYMEKEGLYE
3:36759578-36759578 T>A	0.0	4000	MELANOMA	-	-	-	-	DCLK3	uc003cgi.2,p.D559V|ENST00000416516,p.D559V|NM_033403,p.D559V	protein_coding, processed_transcript	uc003cgi.2	nonsynonymous SNV	exon4	c.A1676T	p.D559V	LCGFPPFRSPERDQDELFNIIQLGH	LCGFPPFRSPERVQDELFNIIQLGH	1.0	7.0	unscreened	-	4000_3:36759578-36759578 T>A_LCGFPPFRSPERVQDELFNIIQLGH
6:161488276-161488276 C>T	1.0	4000	MELANOMA	-	-	-	-	MAP3K4	ENST00000490904,p.P585S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000490904	nonsynonymous SNV	exon4	c.C1753T	p.P585S	RHQSIYVRCTLVPSRKTGQLEAGMG	RHQSIYVRCTLVSSRKTGQLEAGMG	7.0	4.0	-	-	4000_6:161488276-161488276 C>T_RHQSIYVRCTLVSSRKTGQLEAGMG
19:49114071-49114071 G>A	0.0	4000	MELANOMA	-	-	-	-	FAM83E	NM_017708,p.P167S|ENST00000263266,p.P167S|uc002pjn.2,p.P167S	protein_coding, processed_transcript	uc002pjn.2	nonsynonymous SNV	exon2	c.C499T	p.P167S	KLVAVVMDVFTDPDLLLDLVDAATR	KLVAVVMDVFTDSDLLLDLVDAATR	3.0	7.0	unscreened	-	4000_19:49114071-49114071 G>A_KLVAVVMDVFTDSDLLLDLVDAATR
10:105803286-105803286 C>T	0.0	4000	MELANOMA	-	-	-	-	COL17A1	ENST00000353479,p.G830R|ENST00000369733,p.G830R|uc001kxr.3,p.G830R|NM_000494,p.G830R	retained_intron, protein_coding, processed_transcript	uc001kxr.3	nonsynonymous SNV	exon35	c.G2488A	p.G830R	TVPGPPGPPGAMGPPGPPGAPGPAG	TVPGPPGPPGAMRPPGPPGAPGPAG	2.0	8.0	unscreened	-	4000_10:105803286-105803286 C>T_TVPGPPGPPGAMRPPGPPGAPGPAG
2:84804416-84804416 C>T	0.0	4000	MELANOMA	-	-	-	-	DNAH6	uc002sop.3,p.H233Y|NM_001370,p.H654Y|ENST00000389394,p.H654Y|ENST00000237449,p.H654Y|uc002soo.3,p.H233Y|uc010fgb.3,p.H654Y|ENST00000398278,p.H654Y	retained_intron, protein_coding, processed_transcript	uc010fgb.3	nonsynonymous SNV	exon13	c.C1960T	p.H654Y	DINFFSEQLEKYHKQHKDAVALRPT	DINFFSEQLEKYYKQHKDAVALRPT	4.0	1.0	unscreened	-	4000_2:84804416-84804416 C>T_DINFFSEQLEKYYKQHKDAVALRPT
7:25176114-25176114 G>T	1.0	4000	MELANOMA	-	-	-	-	C7orf31	NM_138811,p.T417K|ENST00000409280,p.T417K|uc003sxn.1,p.T417K|ENST00000283905,p.T417K	protein_coding	uc003sxn.1	nonsynonymous SNV	exon10	c.C1250A	p.T417K	LLSTYELPSCYPTKDLTSIYDIKPF	LLSTYELPSCYPKKDLTSIYDIKPF	7.0	6.0	-	-	4000_7:25176114-25176114 G>T_LLSTYELPSCYPKKDLTSIYDIKPF
2:179457257-179457257 T>G	0.0	4000	MELANOMA	-	-	-	-	TTN	ENST00000591111,p.R18184S|ENST00000342175,p.R10952S|uc031rqc.1,p.R19825S|NM_133437,p.R10952S|NM_133432,p.R10885S|NM_003319,p.R10760S|uc031rqd.1,p.R18184S|uc021vsy.2,p.R17257S|ENST00000460472,p.R10760S|uc021vtb.2,p.R10760S|NM_133378,p.R17257S|ENST00000589042,p.R19825S|ENST00000342992,p.R17257S|uc021vta.2,p.R10885S|NM_001256850,p.R18184S|ENST00000359218,p.R10885S|uc021vsz.2,p.R10952S|NM_001267550,p.R19825S	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon251	c.A54552C	p.R18184S	VPFPKVTWKKEDRDAPTKARIDVTP	VPFPKVTWKKEDSDAPTKARIDVTP	6.0	4.0	unscreened	-	4000_2:179457257-179457257 T>G_VPFPKVTWKKEDSDAPTKARIDVTP
12:57328043-57328043 C>T	0.0	4000	MELANOMA	-	-	-	-	SDR9C7	NM_148897,p.M1I|ENST00000293502,p.M1I|uc010sqw.2,p.M1I	protein_coding	uc010sqw.2	nonsynonymous SNV	exon1	c.G3A	p.M1I	MAALTDLSFMYRW	IAALTDLSFMYRW	1.0	6.0	unscreened	-	4000_12:57328043-57328043 C>T_IAALTDLSFMYRW
21:45987808-45987808 C>T	0.0	4000	MELANOMA	-	-	-	-	TSPEAR	NM_144991,p.G55D|uc002zfe.1,p.G55D|ENST00000323084,p.G55D	protein_coding	uc002zfe.1	nonsynonymous SNV	exon2	c.G164A	p.G55D	GATSGIRIVQVHGARGLQLSVAAPR	GATSGIRIVQVHDARGLQLSVAAPR	1.0	2.0	unscreened	-	4000_21:45987808-45987808 C>T_GATSGIRIVQVHDARGLQLSVAAPR
5:147470754-147470754 G>A	0.0	4000	MELANOMA	-	-	-	-	SPINK5	uc003lox.2,p.R210Q|ENST00000359874,p.R210Q|uc010jgr.2,p.R191Q|NM_001127698,p.R210Q|ENST00000256084,p.R210Q|NM_006846,p.R210Q|NM_001127699,p.R210Q|uc003low.2,p.R210Q|uc010jgs.1,p.R182Q|ENST00000508733,p.R191Q|ENST00000398454,p.R210Q|uc003loy.2,p.R210Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jgs.1	nonsynonymous SNV	exon8	c.G545A	p.R182Q	AELFLKEAENAKREGETRIRRNAEK	AELFLKEAENAKQEGETRIRRNAEK	4.0	1.0	unscreened	-	4000_5:147470754-147470754 G>A_AELFLKEAENAKQEGETRIRRNAEK
1:197026242-197026242 C>T	0.0	4000	MELANOMA	-	-	-	-	F13B	NM_001994,p.D358N|ENST00000367412,p.D358N|uc001gtt.1,p.D358N	protein_coding, processed_transcript	uc001gtt.1	nonsynonymous SNV	exon7	c.G1072A	p.D358N	AANLHSKIYYNGDKVTYACKSGYLL	AANLHSKIYYNGNKVTYACKSGYLL	1.0	8.0	unscreened	-	4000_1:197026242-197026242 C>T_AANLHSKIYYNGNKVTYACKSGYLL
12:80732907-80732907 C>T	0.0	4000	MELANOMA	-	-	-	-	OTOGL	uc001szd.3,p.S1629F|ENST00000547103,p.S1617F|ENST00000458043,p.S1629F|NM_173591,p.S1629F	protein_coding, nonsense_mediated_decay	uc001szd.3	nonsynonymous SNV	exon42	c.C4886T	p.S1629F	IVVPLPFSSQELSIEDSGSMYVITT	IVVPLPFSSQELFIEDSGSMYVITT	1.0	4.0	unscreened	-	4000_12:80732907-80732907 C>T_IVVPLPFSSQELFIEDSGSMYVITT
3:38945558-38945558 C>T	0.0	4000	MELANOMA	-	-	-	-	SCN11A	uc021wvy.1,p.G547E|NM_014139,p.G547E|ENST00000302328,p.G547E|ENST00000444237,p.G547E|ENST00000456224,p.G547E|NM_001287223,p.G547E|ENST00000450244,p.G547E	protein_coding	uc021wvy.1	nonsynonymous SNV	exon12	c.G1640A	p.G547E	EQEKSQEPCLPCGENLASKYLVWNC	EQEKSQEPCLPCEENLASKYLVWNC	3.0	9.0	unscreened	-	4000_3:38945558-38945558 C>T_EQEKSQEPCLPCEENLASKYLVWNC
9:34723402-34723402 G>A	0.0	4000	MELANOMA	-	-	-	-	FAM205A	uc011lor.2,p.P1279S|ENST00000378788,p.P1279S|NM_001141917,p.P1279S	protein_coding	uc011lor.2	nonsynonymous SNV	exon4	c.C3835T	p.P1279S	EKPTGCSKAQSRPAQKLVGPAFLDG	EKPTGCSKAQSRSAQKLVGPAFLDG	1.0	5.0	unscreened	-	4000_9:34723402-34723402 G>A_EKPTGCSKAQSRSAQKLVGPAFLDG
11:55872796-55872796 C>T	0.0	4000	MELANOMA	-	-	-	-	OR8H2	ENST00000313503,p.S93F|NM_001005200,p.S93F|uc010riy.2,p.S93F	protein_coding	uc010riy.2	nonsynonymous SNV	exon1	c.C278T	p.S93F	KTLANLLTSNYISFTGCFAQMFFFA	KTLANLLTSNYIFFTGCFAQMFFFA	1.0	6.0	unscreened	-	4000_11:55872796-55872796 C>T_KTLANLLTSNYIFFTGCFAQMFFFA
22:16266995-16266995 G>A	0.0	4000	MELANOMA	-	-	-	-	POTEH	uc002zlh.1,p.P204L|ENST00000343518,p.P485L|uc010gqp.2,p.P485L|NM_001136213,p.P485L|uc002zlj.1,p.P320L	protein_coding, nonsense_mediated_decay	uc010gqp.2	nonsynonymous SNV	exon9	c.C1454T	p.P485L	GATADNGDDGLIPPRKSRTPESQQF	GATADNGDDGLILPRKSRTPESQQF	1.0	1.0	unscreened	-	4000_22:16266995-16266995 G>A_GATADNGDDGLILPRKSRTPESQQF
5:140262982-140262982 C>T	0.0	4000	MELANOMA	-	-	-	-	PCDHA13	uc003lif.2,p.R377C|uc003lie.1,p.R377C|NM_018904,p.R377C|ENST00000289272,p.R377C|uc003lid.3,p.R377C|ENST00000409494,p.R377C|NM_031865,p.R377C	protein_coding	uc003lif.2	nonsynonymous SNV	exon1	c.C1129T	p.R377C	PSAIIALISVSDRDSGSNGQVTCTL	PSAIIALISVSDCDSGSNGQVTCTL	1.0	1.0	unscreened	-	4000_5:140262982-140262982 C>T_PSAIIALISVSDCDSGSNGQVTCTL
3:7340401-7340401 T>A	0.0	4000	MELANOMA	-	-	-	-	GRM7	ENST00000486284,p.I256N|ENST00000403881,p.I256N|uc003bql.2,p.I256N|uc003bqm.2,p.I256N|NM_181874,p.I256N|uc010hcg.2,p.I256N|ENST00000448328,p.I48N|NM_000844,p.I256N|ENST00000402647,p.I256N|ENST00000389336,p.I256N|ENST00000357716,p.I256N|ENST00000389335,p.I256N|ENST00000467425,p.I256N|ENST00000440923,p.I256N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hcg.2	nonsynonymous SNV	exon3	c.T767A	p.I256N	EAGGLCIAQSVRIPQERKDRTIDFD	EAGGLCIAQSVRNPQERKDRTIDFD	2.0	1.0	unscreened	-	4000_3:7340401-7340401 T>A_EAGGLCIAQSVRNPQERKDRTIDFD
12:86373378-86373378 C>T	0.0	4000	MELANOMA	-	-	-	-	MGAT4C	uc001tak.4,p.G376R|uc001tah.4,p.G376R|uc001tal.4,p.G376R|ENST00000549405,p.G376R|uc010sum.2,p.G400R|uc001taj.4,p.G376R|ENST00000393205,p.G405R|ENST00000547225,p.G376R|uc001tai.4,p.G376R|ENST00000552808,p.G376R|NM_013244,p.G376R|ENST00000604798,p.G376R|ENST00000332156,p.G376R|ENST00000548651,p.G376R	protein_coding, processed_transcript	uc010sum.2	nonsynonymous SNV	exon6	c.G1198A	p.G400R	VDEYFWGKPPSTGDVFVIVFENPII	VDEYFWGKPPSTRDVFVIVFENPII	1.0	9.0	unscreened	-	4000_12:86373378-86373378 C>T_VDEYFWGKPPSTRDVFVIVFENPII
8:113697767-113697767 C>T	0.0	4000	MELANOMA	-	-	-	2	CSMD3	NM_052900,p.E680K|ENST00000455883,p.E680K|ENST00000339701,p.E124K|ENST00000352409,p.E784K|uc011lhx.2,p.E680K|ENST00000343508,p.E744K|uc003yns.3,p.E56K|NM_198124,p.E744K|ENST00000297405,p.E784K|uc003ynt.3,p.E744K|uc003ynu.3,p.E784K|NM_198123,p.E784K	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon14	c.G2038A	p.E680K	FDFLAVKDGDSPESPILGTFTGAEV	FDFLAVKDGDSPKSPILGTFTGAEV	1.0	3.0	unscreened	-	4000_8:113697767-113697767 C>T_FDFLAVKDGDSPKSPILGTFTGAEV
2:197854359-197854359 C>T	1.0	4000	MELANOMA	-	-	-	-	ANKRD44	ENST00000282272,p.G972R|NM_001195144,p.G980R|uc021vuj.1,p.G980R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vuj.1	nonsynonymous SNV	exon28	c.G2938A	p.G980R	VLAVDENASRSNGPRSTPGTAVQKE	VLAVDENASRSNRPRSTPGTAVQKE	10.0	5.0	unscreened	-	4000_2:197854359-197854359 C>T_VLAVDENASRSNRPRSTPGTAVQKE
3:138763045-138763045 C>T	0.0	4000	MELANOMA	-	-	-	-	PRR23C	uc011bmt.1,p.E140K|ENST00000413199,p.E140K|NM_001134657,p.E140K|ENST00000502927,p.E140K	protein_coding	uc011bmt.1	nonsynonymous SNV	exon1	c.G418A	p.E140K	LGAHGEDVVVEQEVCASVPEIAAEE	LGAHGEDVVVEQKVCASVPEIAAEE	1.0	7.0	unscreened	-	4000_3:138763045-138763045 C>T_LGAHGEDVVVEQKVCASVPEIAAEE
2:113885204-113885204 G>A	0.0	4000	MELANOMA	-	-	-	-	IL1RN	ENST00000409930,p.M1I|NM_173842,p.M1I|uc002tjb.3,p.M1I	retained_intron, protein_coding, processed_transcript	uc002tjb.3	nonsynonymous SNV	exon1	c.G3A	p.M1I	MEICRGLRSHLIT	IEICRGLRSHLIT	6.0	9.0	unscreened	-	4000_2:113885204-113885204 G>A_IEICRGLRSHLIT
4:41628813-41628813 G>A	0.0	4000	MELANOMA	-	-	-	-	LIMCH1	uc003gvz.4,p.D272N|ENST00000503057,p.D272N	protein_coding, processed_transcript	uc003gvz.4	nonsynonymous SNV	exon8	c.G814A	p.D272N	KENSFLTHQHGNDSEAEGEVVCRLP	KENSFLTHQHGNNSEAEGEVVCRLP	6.0	8.0	unscreened	-	4000_4:41628813-41628813 G>A_KENSFLTHQHGNNSEAEGEVVCRLP
11:55371825-55371825 C>T	0.0	4000	MELANOMA	-	-	-	-	OR4C11	NM_001004700,p.E9K|uc010rii.2,p.E9K|ENST00000302231,p.E9K	protein_coding	uc010rii.2	nonsynonymous SNV	exon1	c.G25A	p.E9K	MQQNNSVPEFILLGLTQDPLR	MQQNNSVPKFILLGLTQDPLR	1.0	2.0	unscreened	-	4000_11:55371825-55371825 C>T_MQQNNSVPKFILLGLTQDPLR
1:157548560-157548560 C>T	0.0	4000	MELANOMA	-	-	-	1	FCRL4	uc001fqw.3,p.V454I|NM_031282,p.V454I|ENST00000271532,p.V454I	protein_coding, processed_transcript	uc001fqw.3	nonsynonymous SNV	exon9	c.G1360A	p.V454I	PAQVELQSLYVDVHPKKGDLVYSEI	PAQVELQSLYVDIHPKKGDLVYSEI	2.0	1.0	unscreened	-	4000_1:157548560-157548560 C>T_PAQVELQSLYVDIHPKKGDLVYSEI
19:56126309-56126309 C>T	0.0	4000	MELANOMA	-	-	-	-	ZNF865	uc021vca.1,p.P442L|NM_001195605,p.P442L|ENST00000568956,p.P442L	protein_coding	uc021vca.1	nonsynonymous SNV	exon1	c.C1325T	p.P442L	AGAGAGGPRPVYPCDLCGKSYSAPQ	AGAGAGGPRPVYLCDLCGKSYSAPQ	5.0	3.0	unscreened	-	4000_19:56126309-56126309 C>T_AGAGAGGPRPVYLCDLCGKSYSAPQ
18:67266698-67266698 C>T	0.0	4000	MELANOMA	-	-	-	-	DOK6	uc002lkl.3,p.H85Y|ENST00000382713,p.H85Y|NM_152721,p.H85Y	protein_coding, processed_transcript	uc002lkl.3	nonsynonymous SNV	exon3	c.C253T	p.H85Y	RETKKHAVAIIFHDETSKTFACESE	RETKKHAVAIIFYDETSKTFACESE	2.0	8.0	unscreened	-	4000_18:67266698-67266698 C>T_RETKKHAVAIIFYDETSKTFACESE
20:29992841-29992841 C>T	0.0	4000	MELANOMA	-	-	-	-	DEFB121	NM_001011878,p.E36K|NM_001171832,p.E24K|ENST00000376314,p.E36K|uc002wvv.2,p.E36K|uc021wbq.1,p.E24K	protein_coding, processed_transcript	uc021wbq.1	nonsynonymous SNV	exon2	c.G70A	p.E24K	WGKSGRCRTTCKESEVYYILCKTEA	WGKSGRCRTTCKKSEVYYILCKTEA	1.0	7.0	unscreened	-	4000_20:29992841-29992841 C>T_WGKSGRCRTTCKKSEVYYILCKTEA
6:28540164-28540164 C>T	0.0	4000	MELANOMA	-	-	-	-	ZBED9	ENST00000452236,p.D1168N|uc003nlo.3,p.D1168N|NM_052923,p.D1168N	protein_coding, processed_transcript	uc003nlo.3	nonsynonymous SNV	exon4	c.G3502A	p.D1168N	HNLTTIINEVGNDLDIAHLRKVISE	HNLTTIINEVGNNLDIAHLRKVISE	1.0	2.0	unscreened	-	4000_6:28540164-28540164 C>T_HNLTTIINEVGNNLDIAHLRKVISE
13:61987576-61987576 G>A	0.0	4000	MELANOMA	-	-	-	-	PCDH20	NM_022843,p.P219L|uc010thj.2,p.P219L|uc001vid.4,p.P219L|ENST00000409204,p.P219L|ENST00000409186,p.P219L	protein_coding, processed_transcript	uc010thj.2	nonsynonymous SNV	exon5	c.C656T	p.P219L	PQFPVSQISVWVPENAPVNTRLAIE	PQFPVSQISVWVLENAPVNTRLAIE	2.0	7.0	unscreened	-	4000_13:61987576-61987576 G>A_PQFPVSQISVWVLENAPVNTRLAIE
2:206305276-206305276 C>T	0.0	4000	MELANOMA	-	-	-	-	PARD3B	ENST00000358768,p.P913L|NM_057177,p.P906L|ENST00000406610,p.P975L|ENST00000351153,p.P906L|uc002var.2,p.P975L|NM_152526,p.P913L|uc002vaq.2,p.P906L|uc002vap.2,p.P913L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002var.2	nonsynonymous SNV	exon20	c.C2924T	p.P975L	CTSANVFRSPSPPRAGPFGYPRDGH	CTSANVFRSPSPLRAGPFGYPRDGH	5.0	7.0	unscreened	-	4000_2:206305276-206305276 C>T_CTSANVFRSPSPLRAGPFGYPRDGH
20:9416219-9416219 C>T	0.0	4000	MELANOMA	-	-	-	-	PLCB4	uc010gbw.1,p.A834V|uc021wal.1,p.A834V|NM_182797,p.A834V|uc010gbx.3,p.A846V|ENST00000378473,p.A846V|NM_001172646,p.A846V|NM_000933,p.A834V|uc002wnh.3,p.A681V|ENST00000414679,p.A846V|ENST00000378501,p.A834V|uc021wam.1,p.A834V|ENST00000278655,p.A834V|ENST00000378493,p.A834V|ENST00000334005,p.A834V	protein_coding, processed_transcript	uc021wam.1	nonsynonymous SNV	exon25	c.C2501T	p.A834V	TYVPDGFGDIVDALSDPKKFLSITE	TYVPDGFGDIVDVLSDPKKFLSITE	2.0	3.0	unscreened	-	4000_20:9416219-9416219 C>T_TYVPDGFGDIVDVLSDPKKFLSITE
1:34208974-34208974 G>A	0.0	4000	MELANOMA	-	-	-	-	CSMD2	uc001bxn.1,p.P654S|ENST00000241312,p.P654S|NM_001281956,p.P694S|ENST00000373381,p.P694S|uc001bxm.1,p.P694S|NM_052896,p.P654S	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxn.1	nonsynonymous SNV	exon14	c.C1960T	p.P654S	APVLGTFSGNQLPSSITSSGHVARL	APVLGTFSGNQLSSSITSSGHVARL	2.0	8.0	unscreened	-	4000_1:34208974-34208974 G>A_APVLGTFSGNQLSSSITSSGHVARL
9:74671753-74671753 C>T	0.0	4000	MELANOMA	-	-	-	-	C9orf57	uc011lsd.2,p.G23E|ENST00000424431,p.G23E	protein_coding	uc011lsd.2	nonsynonymous SNV	exon2	c.G68A	p.G23E	LAPWLRPPFSDLGTCQTKPGQYWKE	LAPWLRPPFSDLETCQTKPGQYWKE	1.0	9.0	unscreened	-	4000_9:74671753-74671753 C>T_LAPWLRPPFSDLETCQTKPGQYWKE
1:233134083-233134083 C>T	0.0	4000	MELANOMA	-	-	-	-	PCNXL2	uc001hvm.2,p.G381D|NM_014801,p.G1902D|uc001hvl.2,p.G1902D|ENST00000344698,p.G554D|ENST00000258229,p.G1902D|uc001hvk.1,p.G554D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001hvm.2	nonsynonymous SNV	exon18	c.G1142A	p.G381D	GAPTTGGNNAPSGGSQESSAEQPRK	GAPTTGGNNAPSDGSQESSAEQPRK	7.0	1.0	unscreened	-	4000_1:233134083-233134083 C>T_GAPTTGGNNAPSDGSQESSAEQPRK
8:143866840-143866840 C>T	0.0	4000	MELANOMA	-	-	-	-	LY6D	uc003yxf.1,p.D62N|NM_003695,p.D62N|ENST00000301263,p.D62N	retained_intron, protein_coding, processed_transcript	uc003yxf.1	nonsynonymous SNV	exon3	c.G184A	p.D62N	TVEPLRGNLVKKDCAESCTPSYTLQ	TVEPLRGNLVKKNCAESCTPSYTLQ	1.0	2.0	unscreened	-	4000_8:143866840-143866840 C>T_TVEPLRGNLVKKNCAESCTPSYTLQ
11:123848397-123848397 A>G	0.0	4000	MELANOMA	-	-	-	-	OR10S1	NM_001004474,p.M1T|ENST00000531945,p.M1T|uc001pzm.1,p.M1T	protein_coding	uc001pzm.1	nonsynonymous SNV	exon1	c.T2C	p.M1T	MTSRSVCEKMTMT	TTSRSVCEKMTMT	1.0	1.0	unscreened	-	4000_11:123848397-123848397 A>G_TTSRSVCEKMTMT
19:58549689-58549689 C>T	0.0	4000	MELANOMA	-	-	-	-	ZSCAN1	uc002qrb.1,p.T162I|uc002qra.1,p.T162I|ENST00000601162,p.T162I|ENST00000391700,p.T162I	protein_coding	uc002qrb.1	nonsynonymous SNV	exon3	c.C485T	p.T162I	AHIAPTPARPLPTSKPLLPRGCVFN	AHIAPTPARPLPISKPLLPRGCVFN	1.0	3.0	unscreened	-	4000_19:58549689-58549689 C>T_AHIAPTPARPLPISKPLLPRGCVFN
2:228883060-228883060 C>T	0.0	4000	MELANOMA	-	-	-	-	SPHKAP	uc002vpq.2,p.G837E|NM_030623,p.G837E|ENST00000344657,p.G837E|ENST00000392056,p.G837E|uc002vpp.2,p.G837E|NM_001142644,p.G837E|uc010zlx.1,p.G837E	retained_intron, protein_coding	uc010zlx.1	nonsynonymous SNV	exon7	c.G2510A	p.G837E	TATTSSKEIYLKGIAGEDTKSPHHS	TATTSSKEIYLKEIAGEDTKSPHHS	1.0	7.0	unscreened	-	4000_2:228883060-228883060 C>T_TATTSSKEIYLKEIAGEDTKSPHHS
10:50340344-50340344 C>T	0.0	4000	MELANOMA	-	-	-	-	FAM170B	uc001jhj.3,p.E56K|NM_001164484,p.E56K|ENST00000311787,p.E56K	protein_coding	uc001jhj.3	nonsynonymous SNV	exon2	c.G166A	p.E56K	GSSPRPGPAIPREEGLYFAARDRGM	GSSPRPGPAIPRKEGLYFAARDRGM	1.0	5.0	unscreened	-	4000_10:50340344-50340344 C>T_GSSPRPGPAIPRKEGLYFAARDRGM
22:21322225-21322225 C>T	0.0	4000	MELANOMA	-	-	-	-	AIFM3	ENST00000335375,p.H23Y|uc011ahx.1,p.H23Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ahx.1	nonsynonymous SNV	exon2	c.C67T	p.H23Y	PICAPACRPSSGHSPWAAASPNPNQ	PICAPACRPSSGYSPWAAASPNPNQ	2.0	2.0	unscreened	-	4000_22:21322225-21322225 C>T_PICAPACRPSSGYSPWAAASPNPNQ
17:10428819-10428819 C>T	0.0	4000	MELANOMA	-	-	-	-	MYH2	NM_017534,p.E1496K|NM_001100112,p.E1496K|uc010coi.3,p.E1496K|ENST00000245503,p.E1496K|ENST00000397183,p.E1496K|uc002gmp.4,p.E1496K	protein_coding	uc010coi.3	nonsynonymous SNV	exon32	c.G4486A	p.E1496K	GTELFKIKNAYEESLDQLETLKREN	GTELFKIKNAYEKSLDQLETLKREN	1.0	4.0	unscreened	-	4000_17:10428819-10428819 C>T_GTELFKIKNAYEKSLDQLETLKREN
2:179720251-179720251 C>T	0.0	4000	MELANOMA	-	-	ID=COSM1691641,COSM1691642;OCCURENCE=1(skin)	-	CCDC141	ENST00000295723,p.M386I|uc002unf.1,p.M440I|uc002une.2,p.M961I|ENST00000343876,p.M405I|ENST00000420890,p.M961I|NM_173648,p.M961I	protein_coding, processed_transcript	uc002unf.1	nonsynonymous SNV	exon9	c.G1320A	p.M440I	MYAEKMQALKRKMEKVSNKTSDSFL	MYAEKMQALKRKIEKVSNKTSDSFL	5.0	3.0	unscreened	-	4000_2:179720251-179720251 C>T_MYAEKMQALKRKIEKVSNKTSDSFL
5:41004483-41004483 C>T	0.0	4000	MELANOMA	-	-	ID=COSM738825;OCCURENCE=1(lung)	-	MROH2B	uc003jmj.4,p.E1387K|ENST00000399564,p.E1387K|NM_173489,p.E1387K|ENST00000506092,p.E942K|uc003jmi.4,p.E942K	retained_intron, protein_coding	uc003jmj.4	nonsynonymous SNV	exon37	c.G4159A	p.E1387K	LLTDRDVSFYFKEIVLQTRTFFEDE	LLTDRDVSFYFKKIVLQTRTFFEDE	1.0	4.0	unscreened	-	4000_5:41004483-41004483 C>T_LLTDRDVSFYFKKIVLQTRTFFEDE
1:233134084-233134084 C>T	0.0	4000	MELANOMA	-	-	-	-	PCNXL2	uc001hvm.2,p.G381S|uc001hvl.2,p.G1902S|ENST00000344698,p.G554S|uc001hvk.1,p.G554S|ENST00000258229,p.G1902S|NM_014801,p.G1902S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001hvm.2	nonsynonymous SNV	exon18	c.G1141A	p.G381S	GAPTTGGNNAPSGGSQESSAEQPRK	GAPTTGGNNAPSSGSQESSAEQPRK	7.0	1.0	unscreened	-	4000_1:233134084-233134084 C>T_GAPTTGGNNAPSSGSQESSAEQPRK
16:9185938-9185938 C>G	1.0	4000	MELANOMA	-	-	-	-	C16orf72	NM_014117,p.Q13E|uc002czm.3,p.Q13E|ENST00000327827,p.Q13E	protein_coding	uc002czm.3	nonsynonymous SNV	exon1	c.C37G	p.Q13E	MEERKEEGEAEIQEHGPEHWFSKWE	MEERKEEGEAEIEEHGPEHWFSKWE	7.0	4.0	-	-	4000_16:9185938-9185938 C>G_MEERKEEGEAEIEEHGPEHWFSKWE
5:160757916-160757916 C>T	0.0	4000	MELANOMA	-	-	ID=COSM1543006,COSM1543007;OCCURENCE=1(lung)	-	GABRB2	uc021yhg.1,p.E288K	retained_intron, protein_coding, processed_transcript	uc021yhg.1	nonsynonymous SNV	exon7	c.G862A	p.E288K	KKAAEKAASANNEKMRLDVNKVNSE	KKAAEKAASANNKKMRLDVNKVNSE	1.0	9.0	unscreened	-	4000_5:160757916-160757916 C>T_KKAAEKAASANNKKMRLDVNKVNSE
5:160757916-160757916 C>T	0.0	4000	MELANOMA	-	-	ID=COSM1543006,COSM1543007;OCCURENCE=1(lung)	-	GABRB2	NM_021911,p.E351K|uc003lys.1,p.E351K|ENST00000274547,p.E351K|ENST00000393959,p.E351K	retained_intron, protein_coding, processed_transcript	uc003lys.1	nonsynonymous SNV	exon9	c.G1051A	p.E351K	KKAAEKAASANNEKMRLDVNKIFYK	KKAAEKAASANNKKMRLDVNKIFYK	1.0	9.0	unscreened	-	4000_5:160757916-160757916 C>T_KKAAEKAASANNKKMRLDVNKIFYK
3:10429979-10429979 C>T	0.0	4000	MELANOMA	-	-	-	-	ATP2B2	NM_001683,p.E297K|ENST00000460129,p.E297K|ENST00000383800,p.E297K|ENST00000397077,p.E297K|uc003bvw.3,p.E297K|uc003bvv.3,p.E297K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003bvw.3	nonsynonymous SNV	exon8	c.G889A	p.E297K	IFTLLGAGGEEEEKKDKKAKQQDGA	IFTLLGAGGEEEKKKDKKAKQQDGA	1.0	1.0	unscreened	-	4000_3:10429979-10429979 C>T_IFTLLGAGGEEEKKKDKKAKQQDGA
3:10429979-10429979 C>T	0.0	4000	MELANOMA	-	-	-	-	ATP2B2	ENST00000452124,p.E184K|uc010hdo.3,p.E33K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hdo.3	nonsynonymous SNV	exon4	c.G97A	p.E33K	IFTLLGAGGEEEEKKDKKGKMQDGN	IFTLLGAGGEEEKKKDKKGKMQDGN	1.0	1.0	unscreened	-	4000_3:10429979-10429979 C>T_IFTLLGAGGEEEKKKDKKGKMQDGN
3:10429979-10429979 C>T	0.0	4000	MELANOMA	-	-	-	-	ATP2B2	NM_001001331,p.E297K|ENST00000343816,p.E297K|ENST00000360273,p.E297K|uc003bvt.3,p.E297K|ENST00000352432,p.E297K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003bvt.3	nonsynonymous SNV	exon6	c.G889A	p.E297K	IFTLLGAGGEEEEKKDKKGVKKGDG	IFTLLGAGGEEEKKKDKKGVKKGDG	1.0	1.0	unscreened	-	4000_3:10429979-10429979 C>T_IFTLLGAGGEEEKKKDKKGVKKGDG
5:13885322-13885322 C>T	0.0	4000	MELANOMA	-	-	ID=COSM1685964;OCCURENCE=3(skin)	-	DNAH5	NM_001369,p.G920E|ENST00000265104,p.G920E|uc003jfd.2,p.G920E	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon19	c.G2759A	p.G920E	NYKNESSAKREEGNFDTLTSSINAR	NYKNESSAKREEENFDTLTSSINAR	2.0	6.0	unscreened	-	4000_5:13885322-13885322 C>T_NYKNESSAKREEENFDTLTSSINAR
X:84606361-84606361 C>T	0.0	4000	MELANOMA	-	-	-	-	POF1B	ENST00000490301,p.D179N|ENST00000373145,p.D179N|NM_024921,p.D179N|ENST00000262753,p.D179N|uc004ees.3,p.D179N|uc004eer.2,p.D179N	protein_coding, nonsense_mediated_decay	uc004ees.3	nonsynonymous SNV	exon5	c.G535A	p.D179N	EKTIRKVEKLNTDQGCHPQAQCHHH	EKTIRKVEKLNTNQGCHPQAQCHHH	1.0	9.0	unscreened	-	4000_X:84606361-84606361 C>T_EKTIRKVEKLNTNQGCHPQAQCHHH
1:75037154-75037154 C>T	0.0	4000	MELANOMA	-	-	-	-	ERICH3	ENST00000326665,p.E1414K|NM_001002912,p.E1414K|uc001dgg.3,p.E1414K	protein_coding, processed_transcript	uc001dgg.3	nonsynonymous SNV	exon14	c.G4240A	p.E1414K	KVVVEELARSGEEVPAAEEMTVTYT	KVVVEELARSGEKVPAAEEMTVTYT	3.0	5.0	unscreened	-	4000_1:75037154-75037154 C>T_KVVVEELARSGEKVPAAEEMTVTYT
15:89400903-89400903 C>T	0.0	4000	MELANOMA	-	-	-	-	ACAN	ENST00000561243,p.P1696L|NM_001135,p.P1696L|NM_013227,p.P1696L|uc010upo.1,p.P1696L|ENST00000559004,p.P1696L|uc010upp.1,p.P1696L|ENST00000352105,p.P1696L|ENST00000439576,p.P1696L	retained_intron, protein_coding	uc010upp.1	nonsynonymous SNV	exon12	c.C5087T	p.P1696L	IGISGAGEISGLPSSELDISGRASG	IGISGAGEISGLLSSELDISGRASG	1.0	2.0	unscreened	-	4000_15:89400903-89400903 C>T_IGISGAGEISGLLSSELDISGRASG
8:85441693-85441693 G>A	0.0	4000	MELANOMA	-	-	-	-	RALYL	NM_001287243,p.G46E|NM_001100393,p.G46E|ENST00000521695,p.G46E|uc003ycr.4,p.G46E|uc003yct.4,p.G59E|NM_001100392,p.G46E|ENST00000522613,p.G46E|uc010lzy.3,p.G46E|NM_173848,p.G46E|ENST00000518566,p.G46E|uc003ycs.4,p.G46E|NM_001100391,p.G59E|ENST00000522455,p.G46E|ENST00000521268,p.G46E|ENST00000517988,p.G46E|ENST00000517638,p.G59E|uc003ycq.4,p.G46E	retained_intron, protein_coding	uc010lzy.3	nonsynonymous SNV	exon2	c.G137A	p.G46E	KKVDIEAIFSKYGKIVGCSVHKGYA	KKVDIEAIFSKYEKIVGCSVHKGYA	1.0	3.0	unscreened	-	4000_8:85441693-85441693 G>A_KKVDIEAIFSKYEKIVGCSVHKGYA
8:53084550-53084550 C>T	0.0	4000	MELANOMA	-	-	-	-	ST18	uc003xra.2,p.E291K|ENST00000521582,p.E291K|ENST00000276480,p.E291K|uc003xrb.2,p.E291K|ENST00000517580,p.E291K|NM_014682,p.E291K|uc011ldr.1,p.E256K|uc011lds.1,p.E196K|uc003xqz.2,p.E291K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lds.1	nonsynonymous SNV	exon5	c.G586A	p.E196K	EEEDSESLAVMTEEGSDLEKAKGNL	EEEDSESLAVMTKEGSDLEKAKGNL	5.0	2.0	unscreened	-	4000_8:53084550-53084550 C>T_EEEDSESLAVMTKEGSDLEKAKGNL
1:196227500-196227500 C>T	0.0	4000	MELANOMA	-	-	-	-	KCNT2	uc001gtd.1,p.R1012K|NM_198503,p.R1012K|ENST00000367433,p.R988K|uc001gth.1,p.R516K|ENST00000294725,p.R1012K|uc001gtf.1,p.R988K|uc001gte.1,p.R945K|NM_001287819,p.R988K|NM_001287820,p.R945K|ENST00000367431,p.R946K	protein_coding, processed_transcript	uc001gth.1	nonsynonymous SNV	exon12	c.G1547A	p.R516K	TSSDQSDHPLLRRKSMQWARRLSRK	TSSDQSDHPLLRKKSMQWARRLSRK	3.0	5.0	unscreened	-	4000_1:196227500-196227500 C>T_TSSDQSDHPLLRKKSMQWARRLSRK
18:50705382-50705382 G>A	0.0	4000	MELANOMA	-	-	ID=COSM1711355;OCCURENCE=1(skin)	2	DCC	NM_005215,p.G490E|uc002lfe.2,p.G490E|uc010xdr.1,p.G338E|ENST00000412726,p.G338E|uc010dpf.2,p.G145E|ENST00000442544,p.G490E|ENST00000581580,p.G145E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xdr.1	nonsynonymous SNV	exon9	c.G1013A	p.G338E	NTTQPGSLQLTVGNLKPEAMYTFRV	NTTQPGSLQLTVENLKPEAMYTFRV	5.0	5.0	unscreened	-	4000_18:50705382-50705382 G>A_NTTQPGSLQLTVENLKPEAMYTFRV
13:37016422-37016422 G>A	0.0	4000	MELANOMA	-	-	-	-	CCNA1	ENST00000255465,p.E443K|NM_001111047,p.E399K|uc001uvs.4,p.E442K|uc010abp.3,p.E399K|uc001uvr.4,p.E443K|ENST00000449823,p.E399K|uc010teo.2,p.E399K|uc010abq.3,p.E399K|ENST00000440264,p.E399K|NM_001111046,p.E399K|ENST00000418263,p.E442K|NM_001111045,p.E442K|NM_003914,p.E443K	protein_coding, processed_transcript	uc010teo.2	nonsynonymous SNV	exon8	c.G1195A	p.E399K	LDIPHRPQQAIREKYKASKYLCVSL	LDIPHRPQQAIRKKYKASKYLCVSL	1.0	1.0	unscreened	-	4000_13:37016422-37016422 G>A_LDIPHRPQQAIRKKYKASKYLCVSL
1:167190144-167190144 G>A	0.0	4000	MELANOMA	-	-	-	-	POU2F1	uc010plh.2,p.G4R|ENST00000560232,p.G4R|ENST00000558944,p.G4R|ENST00000367866,p.G4R|ENST00000429375,p.G4R|ENST00000442313,p.G4R|NM_001198786,p.G4R|NM_002697,p.G4R|uc001gee.3,p.G4R|ENST00000271411,p.G4R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010plh.2	nonsynonymous SNV	exon1	c.G10A	p.G4R	MADGGAASQDESSAAA	MADRGAASQDESSAAA	8.0	9.0	unscreened	-	4000_1:167190144-167190144 G>A_MADRGAASQDESSAAA
19:17892075-17892075 G>A	0.0	4000	MELANOMA	-	-	-	-	FCHO1	ENST00000539407,p.E555K|ENST00000597512,p.E562K|ENST00000252771,p.E555K|uc002nhg.3,p.E555K|NM_001161358,p.E555K|uc010xpw.1,p.E505K|ENST00000389133,p.E555K|NM_001161359,p.E505K|ENST00000596536,p.E555K|NM_001161357,p.E555K|uc010ebb.2,p.E555K|ENST00000596951,p.E555K|ENST00000600676,p.E555K|ENST00000595033,p.E505K|ENST00000594202,p.E555K|uc002nhh.2,p.E555K|NM_015122,p.E555K	retained_intron, protein_coding, processed_transcript	uc010xpw.1	nonsynonymous SNV	exon19	c.G1513A	p.E505K	DLMPAPADPTAREGLAAPPRRLRSR	DLMPAPADPTARKGLAAPPRRLRSR	6.0	2.0	unscreened	-	4000_19:17892075-17892075 G>A_DLMPAPADPTARKGLAAPPRRLRSR
7:131844384-131844384 C>T	0.0	4000	MELANOMA	-	-	-	-	PLXNA4	uc003vra.4,p.S1503N|NM_020911,p.S1503N|ENST00000359827,p.S1503N|ENST00000321063,p.S1503N	retained_intron, protein_coding	uc003vra.4	nonsynonymous SNV	exon25	c.G4508A	p.S1503N	IRQQIDYKTLVLSCVSPDNANSPEV	IRQQIDYKTLVLNCVSPDNANSPEV	2.0	2.0	unscreened	-	4000_7:131844384-131844384 C>T_IRQQIDYKTLVLNCVSPDNANSPEV
3:10429979-10429979 C>T	0.0	4000	MELANOMA	-	-	-	-	ATP2B2	uc010hdp.2,p.E297K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hdp.2	nonsynonymous SNV	exon6	c.G889A	p.E297K	IFTLLGAGGEEEEKKDKKGKPNPLA	IFTLLGAGGEEEKKKDKKGKPNPLA	1.0	1.0	unscreened	-	4000_3:10429979-10429979 C>T_IFTLLGAGGEEEKKKDKKGKPNPLA
11:26587333-26587333 C>T	1.0	4000	MELANOMA	-	-	-	-	MUC15	NM_001135092,p.E52K|uc001mqw.3,p.E52K|uc001mqy.3,p.E52K|ENST00000527569,p.E52K|ENST00000529533,p.E52K|ENST00000455601,p.E25K|NM_145650,p.E25K|ENST00000436318,p.E52K|ENST00000281268,p.E52K|uc001mqx.3,p.E25K|NM_001135091,p.E52K	protein_coding	uc001mqy.3	nonsynonymous SNV	exon3	c.G154A	p.E52K	LFYSLLSGSHGKENQDINTTQNIAE	LFYSLLSGSHGKKNQDINTTQNIAE	4.0	9.0	-	-	4000_11:26587333-26587333 C>T_LFYSLLSGSHGKKNQDINTTQNIAE
19:17108079-17108079 G>A	0.0	4000	MELANOMA	-	-	-	-	CPAMD8	NM_015692,p.R360W|uc002nfb.3,p.R360W|ENST00000443236,p.R360W|ENST00000388925,p.R313W|ENST00000291440,p.R360W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nfb.3	nonsynonymous SNV	exon11	c.C1078T	p.R360W	RDMIPADVPEHFRGRVSIWAMVTSV	RDMIPADVPEHFWGRVSIWAMVTSV	4.0	3.0	unscreened	-	4000_19:17108079-17108079 G>A_RDMIPADVPEHFWGRVSIWAMVTSV
10:73461786-73461786 C>T	0.0	4000	MELANOMA	-	-	-	-	CDH23	NM_001171931,p.A802V|ENST00000299366,p.A847V|NM_001171930,p.A802V|NM_022124,p.A802V|ENST00000224721,p.A807V	protein_coding, processed_transcript	NM_022124	nonsynonymous SNV	exon22	c.C2405T	p.A802V	MTPPDSDVTTVVAVDPDLGENGTLV	MTPPDSDVTTVVVVDPDLGENGTLV	3.0	9.0	unscreened	-	4000_10:73461786-73461786 C>T_MTPPDSDVTTVVVVDPDLGENGTLV
5:160757916-160757916 C>T	0.0	4000	MELANOMA	-	-	ID=COSM1543006,COSM1543007;OCCURENCE=1(lung)	-	GABRB2	ENST00000517901,p.E288K|ENST00000353437,p.E351K|ENST00000517547,p.E191K|ENST00000520240,p.E351K|uc011deh.1,p.E190K|uc003lyt.1,p.E351K|uc003lyr.1,p.E351K|NM_000813,p.E351K	retained_intron, protein_coding, processed_transcript	uc011deh.1	nonsynonymous SNV	exon6	c.G568A	p.E190K	KKAAEKAASANNEKMRLDVNKMDPH	KKAAEKAASANNKKMRLDVNKMDPH	1.0	9.0	unscreened	-	4000_5:160757916-160757916 C>T_KKAAEKAASANNKKMRLDVNKMDPH
18:31523130-31523130 G>A	0.0	4000	MELANOMA	-	-	-	-	NOL4	ENST00000535384,p.P196S|ENST00000538587,p.P407S|uc010xbs.2,p.P196S|uc010xbt.2,p.P407S|ENST00000261592,p.P481S|uc010dmi.3,p.P481S|NM_001198547,p.P407S|NM_001198549,p.P196S|NM_003787,p.P481S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010xbt.2	nonsynonymous SNV	exon9	c.C1219T	p.P407S	MKRSGFEMSRPIPSHLTSAVAESIL	MKRSGFEMSRPISSHLTSAVAESIL	1.0	7.0	unscreened	-	4000_18:31523130-31523130 G>A_MKRSGFEMSRPISSHLTSAVAESIL
5:89979658-89979658 G>A	0.0	4000	MELANOMA	-	-	-	-	GPR98	ENST00000405460,p.D1974N|uc003kju.3,p.D1974N|NM_032119,p.D1974N	retained_intron, protein_coding, processed_transcript	uc003kju.3	nonsynonymous SNV	exon28	c.G5920A	p.D1974N	HINATLTVLASDDPYGIFIFSEKNR	HINATLTVLASDNPYGIFIFSEKNR	2.0	5.0	unscreened	-	4000_5:89979658-89979658 G>A_HINATLTVLASDNPYGIFIFSEKNR
17:12642544-12642544 G>A	0.0	4000	MELANOMA	-	-	-	-	MYOCD	uc002gno.2,p.D206N|uc002gnn.2,p.D206N|uc002gnp.1,p.D110N|NM_001146312,p.D206N|ENST00000425538,p.D206N|NM_153604,p.D206N|ENST00000343344,p.D206N|ENST00000395988,p.D110N	protein_coding, nonsense_mediated_decay	uc002gnp.1	nonsynonymous SNV	exon4	c.G328A	p.D110N	GTNQDLASGSENDRNDSASQPSHQS	GTNQDLASGSENNRNDSASQPSHQS	1.0	4.0	unscreened	-	4000_17:12642544-12642544 G>A_GTNQDLASGSENNRNDSASQPSHQS
5:118968463-118968463 G>A	0.0	4000	MELANOMA	-	-	-	-	FAM170A	uc003ksl.2,p.D31N|ENST00000509264,p.D31N|NM_182761,p.D31N|uc003ksn.3,p.D31N|ENST00000335286,p.D31N|uc003ksm.2,p.D31N|ENST00000515256,p.D31N	protein_coding, nonsense_mediated_decay	uc003ksn.3	nonsynonymous SNV	exon2	c.G91A	p.D31N	AEKGGGMSKSQEDALQPGSTRVAKG	AEKGGGMSKSQENALQPGSTRVAKG	2.0	8.0	unscreened	-	4000_5:118968463-118968463 G>A_AEKGGGMSKSQENALQPGSTRVAKG
7:57194340-57194340 C>T	0.0	4000	MELANOMA	-	-	-	2	ZNF479	ENST00000331162,p.R42K|uc010kzo.3,p.R42K|NM_033273,p.R42K	protein_coding	uc010kzo.3	nonsynonymous SNV	exon3	c.G125A	p.R42K	WQCLDCAQRNLYRDVMLENYRNLVS	WQCLDCAQRNLYKDVMLENYRNLVS	1.0	3.0	unscreened	-	4000_7:57194340-57194340 C>T_WQCLDCAQRNLYKDVMLENYRNLVS
11:72946181-72946181 C>T	0.0	4000	MELANOMA	-	-	-	-	P2RY2	NM_176072,p.P326L|ENST00000393597,p.P326L|NM_176071,p.P326L|NM_002564,p.P326L|uc001otl.4,p.P326L|ENST00000393596,p.P326L|uc001otj.4,p.P326L|uc021qna.1,p.P326L|ENST00000311131,p.P326L|uc001otk.4,p.P326L	protein_coding	uc021qna.1	nonsynonymous SNV	exon1	c.C977T	p.P326L	VRFARDAKPPTGPSPATPARRRLGL	VRFARDAKPPTGLSPATPARRRLGL	3.0	5.0	unscreened	-	4000_11:72946181-72946181 C>T_VRFARDAKPPTGLSPATPARRRLGL
9:135545422-135545422 C>T	0.0	4000	MELANOMA	-	-	-	-	DDX31	ENST00000372153,p.R72K|uc004cbs.2,p.R72K|ENST00000372159,p.R72K|ENST00000310532,p.R72K|uc004cbr.1,p.R72K|NM_138620,p.R72K|uc010mzu.1,p.R72K|uc004cbq.1,p.R72K|NM_022779,p.R72K	protein_coding, processed_transcript	uc010mzu.1	nonsynonymous SNV	exon1	c.G215A	p.R72K	TSPYSWSRSGPGRGGGAGSSRVPRG	TSPYSWSRSGPGKGGGAGSSRVPRG	6.0	9.0	unscreened	-	4000_9:135545422-135545422 C>T_TSPYSWSRSGPGKGGGAGSSRVPRG
6:30993314-30993314 G>A	0.0	4000	MELANOMA	-	-	-	-	MUC22	NM_001198815,p.D36N|uc021yug.1,p.D36N|uc021yuh.1,p.D39N|ENST00000561890,p.D36N	protein_coding	uc021yuh.1	nonsynonymous SNV	exon3	c.G115A	p.D39N	SSENTTAFTKGSDTTTASITGSETT	SSENTTAFTKGSNTTTASITGSETT	1.0	2.0	unscreened	-	4000_6:30993314-30993314 G>A_SSENTTAFTKGSNTTTASITGSETT
22:37892473-37892473 G>A	0.0	4000	MELANOMA	-	-	-	-	CARD10	ENST00000406271,p.S395F|uc003asy.1,p.S681F|NM_014550,p.S681F|ENST00000437756,p.S322F|uc003asx.1,p.S681F|ENST00000403299,p.S681F|uc003asw.1,p.S395F|ENST00000433485,p.S153F|ENST00000251973,p.S681F	retained_intron, protein_coding, processed_transcript	uc003asy.1	nonsynonymous SNV	exon13	c.C2042T	p.S681F	RTLLWNQGSTLPSLMDSKACQSFHE	RTLLWNQGSTLPFLMDSKACQSFHE	4.0	6.0	unscreened	-	4000_22:37892473-37892473 G>A_RTLLWNQGSTLPFLMDSKACQSFHE
19:48052649-48052649 G>A	0.0	4000	MELANOMA	-	-	-	-	ZNF541	ENST00000314121,p.S134F|uc010xyt.3,p.S134F|NM_001277075,p.S134F|uc002phg.5,p.S134F|ENST00000448976,p.S134F|ENST00000391901,p.S134F	protein_coding, processed_transcript	uc010xyt.3	nonsynonymous SNV	exon2	c.C401T	p.S134F	SGSARKGKRQHSSPQNPLLDCSLCG	SGSARKGKRQHSFPQNPLLDCSLCG	3.0	6.0	unscreened	-	4000_19:48052649-48052649 G>A_SGSARKGKRQHSFPQNPLLDCSLCG
5:64020314-64020314 T>G	1.0	4000	MELANOMA	-	-	-	-	SREK1IP1	uc003jtk.3,p.K122T|NM_173829,p.K122T|ENST00000513458,p.K122T	retained_intron, protein_coding, processed_transcript	uc003jtk.3	nonsynonymous SNV	exon5	c.A365C	p.K122T	QKYQKKEKKKEKKSKSKKGKHHKKE	QKYQKKEKKKEKTSKSKKGKHHKKE	7.0	1.0	-	-	4000_5:64020314-64020314 T>G_QKYQKKEKKKEKTSKSKKGKHHKKE
2:125261885-125261885 C>T	0.0	4000	MELANOMA	-	-	-	-	CNTNAP5	uc002tno.3,p.S359F|NM_130773,p.S359F|ENST00000431078,p.S359F	retained_intron, protein_coding, processed_transcript	uc002tno.3	nonsynonymous SNV	exon8	c.C1076T	p.S359F	RKHQIYTGNVTFSCSEPQIVPITFV	RKHQIYTGNVTFFCSEPQIVPITFV	1.0	6.0	unscreened	-	4000_2:125261885-125261885 C>T_RKHQIYTGNVTFFCSEPQIVPITFV
16:20352620-20352620 G>A	0.0	4000	MELANOMA	-	-	ID=COSM1708839,COSM1708838;OCCURENCE=1(skin)	-	UMOD	uc002dha.3,p.T457I|uc002dhb.3,p.T490I|uc002dgz.3,p.T457I|NM_003361,p.T457I|ENST00000424589,p.T490I|ENST00000396138,p.T506I|ENST00000396134,p.T490I|ENST00000302509,p.T457I|ENST00000396142,p.T457I|NM_001278614,p.T490I|ENST00000570689,p.T457I|NM_001008389,p.T457I	protein_coding, processed_transcript	uc002dhb.3	nonsynonymous SNV	exon8	c.C1469T	p.T490I	ALNIRVGGTGMFTVRMALFQTPSYT	ALNIRVGGTGMFIVRMALFQTPSYT	1.0	3.0	unscreened	-	4000_16:20352620-20352620 G>A_ALNIRVGGTGMFIVRMALFQTPSYT
4:147824788-147824788 C>T	0.0	4000	MELANOMA	-	-	-	-	TTC29	NM_001300761,p.R191Q|ENST00000513335,p.R191Q|NM_031956,p.R165Q|ENST00000398886,p.R191Q|ENST00000325106,p.R165Q|uc003ikx.4,p.R191Q|uc003ikw.4,p.R165Q|uc010ipd.1,p.R165Q|ENST00000504425,p.R165Q|ENST00000508306,p.R165Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ipd.1	nonsynonymous SNV	exon6	c.G494A	p.R165Q	SEDKWVRNHFYERCFKIAQLIKIDC	SEDKWVRNHFYEQCFKIAQLIKIDC	1.0	6.0	unscreened	-	4000_4:147824788-147824788 C>T_SEDKWVRNHFYEQCFKIAQLIKIDC
10:31791374-31791374 C>T	0.0	4000	MELANOMA	-	-	-	2	ZEB1	ENST00000559476,p.P124S|uc009xlp.3,p.P124S|ENST00000320985,p.P140S|NM_001174096,p.P141S|ENST00000361642,p.P141S|uc001ivs.4,p.P140S|NM_001174093,p.P120S|ENST00000560721,p.P120S|NM_001128128,p.P124S|ENST00000542815,p.P73S|uc001ivu.4,p.P141S|NM_001174094,p.P123S|ENST00000561212,p.P148S|NM_030751,p.P140S|uc001ivv.4,p.P120S|ENST00000446923,p.P124S|NM_001174095,p.P73S|ENST00000424869,p.P141S|uc010qeh.2,p.P73S|uc009xlo.2,p.P123S	retained_intron, protein_coding, processed_transcript	uc010qeh.2	nonsynonymous SNV	exon3	c.C217T	p.P73S	EFLQQQDTAVIFPEAPEEDQRQGTP	EFLQQQDTAVIFSEAPEEDQRQGTP	8.0	6.0	unscreened	-	4000_10:31791374-31791374 C>T_EFLQQQDTAVIFSEAPEEDQRQGTP
6:100841531-100841531 C>T	0.0	4000	MELANOMA	-	-	ID=COSM1697677;OCCURENCE=1(skin)	-	SIM1	uc003pqj.4,p.E468K|ENST00000369208,p.E468K|uc021zdg.1,p.E468K|NM_005068,p.E468K|ENST00000262901,p.E468K|uc010kcu.3,p.E468K	retained_intron, protein_coding	uc021zdg.1	nonsynonymous SNV	exon10	c.G1402A	p.E468K	LVEERHFHTQACEGGRCEAGRYFLG	LVEERHFHTQACKGGRCEAGRYFLG	1.0	9.0	unscreened	-	4000_6:100841531-100841531 C>T_LVEERHFHTQACKGGRCEAGRYFLG
11:6977472-6977472 C>T	0.0	4000	MELANOMA	-	-	-	-	ZNF215	ENST00000278319,p.L422F|ENST00000414517,p.L422F|uc010rax.2,p.L184F|uc001mey.3,p.L422F|uc010raw.3,p.L196F|NM_013250,p.L422F	protein_coding, processed_transcript	uc010rax.2	nonsynonymous SNV	exon5	c.C550T	p.L184F	SECGRFFNRRTNLTKHQKLHAEAKA	SECGRFFNRRTNFTKHQKLHAEAKA	5.0	4.0	unscreened	-	4000_11:6977472-6977472 C>T_SECGRFFNRRTNFTKHQKLHAEAKA
7:47969032-47969032 G>A	0.0	4000	MELANOMA	-	-	-	-	PKD1L1	NM_138295,p.P277S|uc003tny.2,p.P277S|ENST00000289672,p.P277S	retained_intron, protein_coding, processed_transcript	uc003tny.2	nonsynonymous SNV	exon7	c.C829T	p.P277S	SGSEILYPPTQHPPVAILARNSDNF	SGSEILYPPTQHSPVAILARNSDNF	3.0	6.0	unscreened	-	4000_7:47969032-47969032 G>A_SGSEILYPPTQHSPVAILARNSDNF
13:41636787-41636787 T>C	1.0	4000	MELANOMA	-	-	-	-	WBP4	ENST00000379487,p.Y4H|uc010tfd.2,p.Y4H|NM_007187,p.Y4H|uc001uxt.3,p.Y4H|ENST00000542082,p.Y4H	protein_coding	uc010tfd.2	nonsynonymous SNV	exon2	c.T10C	p.Y4H	MADYWKSQPKKFCDYC	MADHWKSQPKKFCDYC	7.0	2.0	-	-	4000_13:41636787-41636787 T>C_MADHWKSQPKKFCDYC
16:77389943-77389943 G>A	0.0	4000	MELANOMA	-	-	ID=COSM109444;OCCURENCE=2(skin)	-	ADAMTS18	ENST00000282849,p.P452S|uc002ffe.1,p.P148S|NM_199355,p.P452S|uc010chc.1,p.P40S|uc002ffc.4,p.P452S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010chc.1	nonsynonymous SNV	exon4	c.C118T	p.P40S	HNFGMIHDGEGNPCRKAEGNIMSPT	HNFGMIHDGEGNSCRKAEGNIMSPT	1.0	9.0	unscreened	-	4000_16:77389943-77389943 G>A_HNFGMIHDGEGNSCRKAEGNIMSPT
9:40703101-40703101 G>A	0.0	4000	MELANOMA	-	-	-	-	SPATA31A3	uc010mmj.3,p.S253N|ENST00000356699,p.S253N|NM_001083124,p.S253N	protein_coding, processed_transcript	uc010mmj.3	nonsynonymous SNV	exon4	c.G758A	p.S253N	DSVALPLGTVPQSLSPHEDLVASVP	DSVALPLGTVPQNLSPHEDLVASVP	1.0	3.0	unscreened	-	4000_9:40703101-40703101 G>A_DSVALPLGTVPQNLSPHEDLVASVP
3:186358331-186358331 C>T	0.0	4000	MELANOMA	-	-	-	-	FETUB	uc003fqp.4,p.P28S|ENST00000420570,p.P28S|NM_014375,p.P28S|uc010hyr.3,p.P28S|ENST00000435961,p.P28S|uc010hyq.3,p.P28S|ENST00000265029,p.P28S|ENST00000382136,p.P28S|ENST00000450521,p.P28S|ENST00000382134,p.P28S|uc003fqn.3,p.P28S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010hyr.3	nonsynonymous SNV	exon1	c.C82T	p.P28S	CGAMSPPQLALNPSALLSRGCNDSD	CGAMSPPQLALNSSALLSRGCNDSD	1.0	7.0	unscreened	-	4000_3:186358331-186358331 C>T_CGAMSPPQLALNSSALLSRGCNDSD
16:15832541-15832541 C>T	0.0	4000	MELANOMA	-	-	ID=COSM1708779,COSM1708778;OCCURENCE=2(skin)	1	MYH11	uc002ddw.3,p.R1001Q|uc002ddy.3,p.R1001Q|ENST00000576790,p.R1001Q|uc010bvg.3,p.R833Q|ENST00000396324,p.R1008Q|NM_001040114,p.R1008Q|ENST00000452625,p.R1008Q|NM_022844,p.R1001Q|ENST00000300036,p.R1001Q|NM_002474,p.R1001Q|NM_001040113,p.R1008Q|uc002ddv.3,p.R1008Q|ENST00000338282,p.R1001Q|uc002ddx.3,p.R1008Q	retained_intron, protein_coding, processed_transcript	uc010bvg.3	nonsynonymous SNV	exon25	c.G2498A	p.R833Q	VMDDQNNKLSKERKLLEERISDLTT	VMDDQNNKLSKEQKLLEERISDLTT	4.0	9.0	unscreened	-	4000_16:15832541-15832541 C>T_VMDDQNNKLSKEQKLLEERISDLTT
18:29054243-29054243 G>A	0.0	4000	MELANOMA	-	-	-	-	DSG3	uc002kws.3,p.G754E|uc002kwt.3,p.G36E|ENST00000257189,p.G754E|NM_001944,p.G754E	protein_coding	uc002kwt.3	nonsynonymous SNV	exon1	c.G107A	p.G36E	VSGAASGFGAATGVGICSSGQSGTM	VSGAASGFGAATEVGICSSGQSGTM	1.0	3.0	unscreened	-	4000_18:29054243-29054243 G>A_VSGAASGFGAATEVGICSSGQSGTM
3:167051674-167051674 C>T	0.0	4000	MELANOMA	-	-	-	-	ZBBX	uc003feq.3,p.E181K|NM_001199202,p.E181K|ENST00000455345,p.E210K|ENST00000392764,p.E181K|ENST00000392767,p.E210K|NM_024687,p.E210K|ENST00000392766,p.E210K|uc011bpc.2,p.E210K|uc003fep.3,p.E210K|NM_001199201,p.E210K|ENST00000307529,p.E210K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bpc.2	nonsynonymous SNV	exon10	c.G628A	p.E210K	PDEPKEENNSTKETSKIQHKPKSVL	PDEPKEENNSTKKTSKIQHKPKSVL	4.0	9.0	unscreened	-	4000_3:167051674-167051674 C>T_PDEPKEENNSTKKTSKIQHKPKSVL
1:103354156-103354156 G>A	0.0	4000	MELANOMA	-	-	-	-	COL11A1	uc001duk.3,p.L725F|NM_001854,p.L1529F|NM_080630,p.L1413F|ENST00000353414,p.L1490F|uc001dum.3,p.L1541F|NM_080629,p.L1541F|ENST00000512756,p.L1413F|uc001dun.3,p.L1490F|uc001dul.3,p.L1529F|ENST00000370096,p.L1529F|ENST00000358392,p.L1541F|NM_001190709,p.L1490F|uc009weh.3,p.L1413F	retained_intron, protein_coding, processed_transcript	uc009weh.3	nonsynonymous SNV	exon60	c.C4237T	p.L1413F	STGPAGQKGDSGLPGPPGSPGPPGE	STGPAGQKGDSGFPGPPGSPGPPGE	4.0	9.0	unscreened	-	4000_1:103354156-103354156 G>A_STGPAGQKGDSGFPGPPGSPGPPGE
8:110394753-110394753 A>C	0.0	4000	MELANOMA	-	-	-	-	PKHD1L1	uc003yne.3,p.N124H|NM_177531,p.N124H|ENST00000378402,p.N124H	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon4	c.A370C	p.N124H	VRVSVDGVPVTENNTCKGHINSWEC	VRVSVDGVPVTEHNTCKGHINSWEC	4.0	2.0	unscreened	-	4000_8:110394753-110394753 A>C_VRVSVDGVPVTEHNTCKGHINSWEC
7:50611656-50611656 G>A	0.0	4000	MELANOMA	-	-	-	-	DDC	ENST00000426377,p.P43L|uc022adb.1,p.P43L|NM_001242887,p.P43L|NM_001082971,p.P43L|uc022ade.1,p.P43L|ENST00000444124,p.P43L|ENST00000380984,p.P43L|uc003tpf.4,p.P43L|uc022adf.1,p.P43L|NM_001242888,p.P43L|ENST00000444733,p.P43L|uc022add.1,p.P43L|ENST00000357936,p.P43L|ENST00000431062,p.P43L|NM_001242889,p.P43L|NM_000790,p.P43L|NM_001242890,p.P43L|uc022adc.1,p.P43L|NM_001242886,p.P43L|uc003tpg.4,p.P43L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022adf.1	nonsynonymous SNV	exon2	c.C128T	p.P43L	PDVEPGYLRPLIPAAAPQEPDTFED	PDVEPGYLRPLILAAAPQEPDTFED	1.0	4.0	unscreened	-	4000_7:50611656-50611656 G>A_PDVEPGYLRPLILAAAPQEPDTFED
20:36718267-36718267 C>T	1.0	4000	MELANOMA	-	-	-	-	RPRD1B	ENST00000373433,p.S324L|NM_021215,p.S324L|uc002xho.4,p.S324L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002xho.4	nonsynonymous SNV	exon7	c.C971T	p.S324L	GLAPLPSAGDLFSTD	GLAPLPSAGDLFLTD	9.0	9.0	-	-	4000_20:36718267-36718267 C>T_GLAPLPSAGDLFLTD
16:21098207-21098207 G>A	0.0	4000	MELANOMA	-	-	-	-	DNAH3	NM_017539,p.S947F|uc010vbe.2,p.S947F|ENST00000261383,p.S947F|ENST00000415178,p.S947F	retained_intron, protein_coding, processed_transcript	uc010vbe.2	nonsynonymous SNV	exon19	c.C2840T	p.S947F	DKFKQYIPILSISCNPGMKDRHWQQ	DKFKQYIPILSIFCNPGMKDRHWQQ	1.0	4.0	unscreened	-	4000_16:21098207-21098207 G>A_DKFKQYIPILSIFCNPGMKDRHWQQ
12:18658304-18658304 G>A	0.0	4000	MELANOMA	-	-	-	-	PIK3C2G	uc001rdt.3,p.D1037N|NM_001288772,p.D1078N|uc010sic.2,p.D856N|ENST00000266497,p.D1037N|ENST00000433979,p.D1037N|NM_001288774,p.D856N|NM_004570,p.D1037N|ENST00000538779,p.D1078N|uc010sib.2,p.D1078N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010sic.2	nonsynonymous SNV	exon23	c.G2566A	p.D856N	VTFILGVCDRHNDNIMLTKSGHMFH	VTFILGVCDRHNNNIMLTKSGHMFH	1.0	8.0	unscreened	-	4000_12:18658304-18658304 G>A_VTFILGVCDRHNNNIMLTKSGHMFH
20:57767723-57767723 C>T	0.0	4000	MELANOMA	-	-	-	-	ZNF831	ENST00000371030,p.S550L|uc002yan.3,p.S550L|NM_178457,p.S550L	protein_coding	uc002yan.3	nonsynonymous SNV	exon1	c.C1649T	p.S550L	GPARLGCRSGLSSTDVPSGHPRALV	GPARLGCRSGLSLTDVPSGHPRALV	5.0	8.0	unscreened	-	4000_20:57767723-57767723 C>T_GPARLGCRSGLSLTDVPSGHPRALV
5:76326611-76326611 C>T	0.0	4000	MELANOMA	-	-	-	-	AGGF1	uc003ket.3,p.S7F|ENST00000506806,p.S7F|ENST00000312916,p.S7F|uc003kes.3,p.S7F|NM_018046,p.S7F	protein_coding, processed_transcript, nonsense_mediated_decay	uc003ket.3	nonsynonymous SNV	exon1	c.C20T	p.S7F	MASEAPSPPRSPPPPTSPE	MASEAPFPPRSPPPPTSPE	8.0	4.0	unscreened	-	4000_5:76326611-76326611 C>T_MASEAPFPPRSPPPPTSPE
15:54307756-54307756 C>T	0.0	4000	MELANOMA	-	-	-	-	UNC13C	ENST00000260323,p.L886F|ENST00000537900,p.L886F|uc021sms.1,p.L886F|ENST00000545554,p.L886F|uc021smr.1,p.L886F|NM_001080534,p.L886F	retained_intron, protein_coding	uc021sms.1	nonsynonymous SNV	exon1	c.C2656T	p.L886F	NETDYVEVMEQVLAKLENRTSITET	NETDYVEVMEQVFAKLENRTSITET	1.0	7.0	unscreened	-	4000_15:54307756-54307756 C>T_NETDYVEVMEQVFAKLENRTSITET
11:22283804-22283804 G>A	0.0	4000	MELANOMA	-	-	-	-	ANO5	uc001mqi.2,p.G587E|NM_001142649,p.G586E|ENST00000324559,p.G587E|NM_213599,p.G587E|uc001mqj.2,p.G586E	protein_coding, processed_transcript	uc001mqj.2	nonsynonymous SNV	exon16	c.G1757A	p.G586E	VAFFKGKFVGYPGKYTYLFNEWRSE	VAFFKGKFVGYPEKYTYLFNEWRSE	4.0	3.0	unscreened	-	4000_11:22283804-22283804 G>A_VAFFKGKFVGYPEKYTYLFNEWRSE
10:45430329-45430329 G>A	0.0	4000	MELANOMA	-	-	-	-	TMEM72	uc001jbn.2,p.G192E|ENST00000389583,p.G192E|uc009xmm.1,p.G74E|NM_001123376,p.G192E|ENST00000544540,p.G74E	retained_intron, protein_coding	uc009xmm.1	nonsynonymous SNV	exon4	c.G221A	p.G74E	SSLFIHMKSILKGTKKPSALQPPNT	SSLFIHMKSILKETKKPSALQPPNT	1.0	9.0	unscreened	-	4000_10:45430329-45430329 G>A_SSLFIHMKSILKETKKPSALQPPNT
7:117232001-117232001 C>G	0.0	4000	MELANOMA	-	-	-	-	CFTR	NM_000492,p.L594V|ENST00000426809,p.L564V|uc003vjd.3,p.L594V|ENST00000454343,p.L533V|ENST00000003084,p.L594V	protein_coding, processed_transcript, nonsense_mediated_decay	uc003vjd.3	nonsynonymous SNV	exon14	c.C1780G	p.L594V	TEKEIFESCVCKLMANKTRILVTSK	TEKEIFESCVCKVMANKTRILVTSK	2.0	4.0	unscreened	-	4000_7:117232001-117232001 C>G_TEKEIFESCVCKVMANKTRILVTSK
16:84449099-84449099 G>A	0.0	4000	MELANOMA	-	-	-	-	ATP2C2	NM_001291454,p.G25R|uc002fhz.3,p.G25R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc002fhz.3	nonsynonymous SNV	exon4	c.G73A	p.G25R	SWSLSPSSSLREGKLQHLLARELVP	SWSLSPSSSLRERKLQHLLARELVP	2.0	4.0	unscreened	-	4000_16:84449099-84449099 G>A_SWSLSPSSSLRERKLQHLLARELVP
16:84449099-84449099 G>A	0.0	4000	MELANOMA	-	-	-	-	ATP2C2	uc002fhx.3,p.G176R|uc002fhy.3,p.G193R|ENST00000416219,p.G176R|uc010chj.3,p.G176R|ENST00000262429,p.G176R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc010chj.3	nonsynonymous SNV	exon7	c.G526A	p.G176R	KMVPPECNCLREGKLQHLLARELVP	KMVPPECNCLRERKLQHLLARELVP	2.0	4.0	unscreened	-	4000_16:84449099-84449099 G>A_KMVPPECNCLRERKLQHLLARELVP
16:84449099-84449099 G>A	0.0	4000	MELANOMA	-	-	-	-	ATP2C2	NM_014861,p.G176R|NM_001286527,p.G176R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	NM_014861	nonsynonymous SNV	exon7	c.G526A	p.G176R	KLVPPECNCLREGKLQHLLARELVP	KLVPPECNCLRERKLQHLLARELVP	2.0	4.0	unscreened	-	4000_16:84449099-84449099 G>A_KLVPPECNCLRERKLQHLLARELVP
1:248039750-248039750 C>T	0.0	4000	MELANOMA	-	-	ID=COSM229908;OCCURENCE=1(NS)	-	TRIM58	uc001ido.3,p.H474Y|NM_015431,p.H474Y|ENST00000366481,p.H474Y	protein_coding	uc001ido.3	nonsynonymous SNV	exon6	c.C1420T	p.H474Y	TIAGSGNWASRDHLDPASDVRDDHL	TIAGSGNWASRDYLDPASDVRDDHL	1.0	8.0	unscreened	-	4000_1:248039750-248039750 C>T_TIAGSGNWASRDYLDPASDVRDDHL
18:29793280-29793280 G>A	0.0	4000	MELANOMA	-	-	-	-	MEP1B	ENST00000269202,p.G446E|ENST00000581447,p.G446E|NM_005925,p.G446E|uc002kxj.4,p.G446E	retained_intron, protein_coding	uc002kxj.4	nonsynonymous SNV	exon11	c.G1337A	p.G446E	IRNFTQFIGSPNGTLYSPPFYSSKG	IRNFTQFIGSPNETLYSPPFYSSKG	1.0	7.0	unscreened	-	4000_18:29793280-29793280 G>A_IRNFTQFIGSPNETLYSPPFYSSKG
1:220986707-220986707 G>A	0.0	4000	MELANOMA	-	-	-	-	MARC1	uc001hms.3,p.E321K|ENST00000366910,p.E321K|NM_022746,p.E321K|uc001hmt.3,p.E338K	protein_coding, processed_transcript, nonsense_mediated_decay	uc001hmt.3	nonsynonymous SNV	exon7	c.G1012A	p.E338K	GKSPLFGQYFVLENPGTIKVGDPVY	GKSPLFGQYFVLKNPGTIKVGDPVY	4.0	5.0	unscreened	-	4000_1:220986707-220986707 G>A_GKSPLFGQYFVLKNPGTIKVGDPVY
17:6929893-6929893 C>T	0.0	4000	MELANOMA	-	-	-	-	BCL6B	NM_181844,p.S336L|uc010clt.1,p.S336L	retained_intron, protein_coding, processed_transcript	uc010clt.1	nonsynonymous SNV	exon6	c.C1007T	p.S336L	DEDKPYKCQLCRSSFRYKGNLASHR	DEDKPYKCQLCRLSFRYKGNLASHR	4.0	7.0	unscreened	-	4000_17:6929893-6929893 C>T_DEDKPYKCQLCRLSFRYKGNLASHR
3:14860852-14860852 C>T	0.0	4000	MELANOMA	-	-	-	-	FGD5	uc011avk.2,p.P92S|uc003bzc.3,p.P92S|NM_152536,p.P92S|ENST00000285046,p.P92S	retained_intron, protein_coding, processed_transcript	uc011avk.2	nonsynonymous SNV	exon1	c.C274T	p.P92S	DEGSVGNKALVSPESSAEEEEEREE	DEGSVGNKALVSSESSAEEEEEREE	4.0	9.0	unscreened	-	4000_3:14860852-14860852 C>T_DEGSVGNKALVSSESSAEEEEEREE
4:81122519-81122519 G>A	0.0	4000	MELANOMA	-	-	-	-	PRDM8	uc003hmb.4,p.E99K|NM_020226,p.E99K|ENST00000339711,p.E99K|uc010ijo.3,p.E99K|NM_001099403,p.E99K|ENST00000515013,p.E99K|ENST00000504452,p.E99K|ENST00000415738,p.E99K|uc003hmc.4,p.E99K	protein_coding, processed_transcript	uc010ijo.3	nonsynonymous SNV	exon7	c.G295A	p.E99K	MWLRLVQSARDKEEQNLEAYIKNGQ	MWLRLVQSARDKKEQNLEAYIKNGQ	5.0	4.0	unscreened	-	4000_4:81122519-81122519 G>A_MWLRLVQSARDKKEQNLEAYIKNGQ
20:18005591-18005591 G>A	0.0	4000	MELANOMA	-	-	-	-	OVOL2	ENST00000278780,p.R173C|NM_021220,p.R173C|uc002wqi.1,p.R173C	protein_coding, processed_transcript	uc002wqi.1	nonsynonymous SNV	exon4	c.C517T	p.R173C	DLKRHVRTHTGIRPYKCNVCNKAFT	DLKRHVRTHTGICPYKCNVCNKAFT	2.0	6.0	unscreened	-	4000_20:18005591-18005591 G>A_DLKRHVRTHTGICPYKCNVCNKAFT
19:9074625-9074625 G>A	0.0	4000	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.P4274L|NM_024690,p.P4274L|uc002mkp.3,p.P4274L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C12821T	p.P4274L	IPGHTKPSKATSPLVTSHIMGDITS	IPGHTKPSKATSLLVTSHIMGDITS	3.0	4.0	unscreened	-	4000_19:9074625-9074625 G>A_IPGHTKPSKATSLLVTSHIMGDITS
17:38643348-38643348 G>A	0.0	4000	MELANOMA	-	-	ID=COSM3819499;OCCURENCE=1(breast)	-	TNS4	ENST00000254051,p.P410S|NM_032865,p.P410S|uc010cxb.3,p.P410S	retained_intron, protein_coding	uc010cxb.3	nonsynonymous SNV	exon4	c.C1228T	p.P410S	VQPGAASPSNPCPATRSNSQTLSDA	VQPGAASPSNPCSATRSNSQTLSDA	4.0	9.0	unscreened	-	4000_17:38643348-38643348 G>A_VQPGAASPSNPCSATRSNSQTLSDA
6:25862506-25862506 G>T	0.0	4000	MELANOMA	-	-	-	-	SLC17A3	ENST00000360657,p.D86E|uc011dka.1,p.D86E|ENST00000449356,p.D86E|ENST00000397060,p.D86E|ENST00000506105,p.D86E|NM_001098486,p.D86E|uc011djz.1,p.D86E|ENST00000361703,p.D86E|uc003nfk.4,p.D86E|NM_006632,p.D86E|uc003nfi.4,p.D86E	retained_intron, protein_coding, nonsense_mediated_decay	uc011dka.1	nonsynonymous SNV	exon3	c.C258A	p.D86E	SQLNDSSEVLPVDSFGGLSKAPKSL	SQLNDSSEVLPVESFGGLSKAPKSL	1.0	4.0	unscreened	-	4000_6:25862506-25862506 G>T_SQLNDSSEVLPVESFGGLSKAPKSL
10:50533495-50533495 C>T	0.0	4000	MELANOMA	-	-	-	-	C10orf71	uc021pqb.1,p.R969W|NM_001135196,p.R969W|uc021pqa.2,p.R969W|ENST00000374144,p.R969W	protein_coding, processed_transcript	uc021pqb.1	nonsynonymous SNV	exon1	c.C2905T	p.R969W	NFPSMPLVGEGDRVKAPPDAAPGLV	NFPSMPLVGEGDWVKAPPDAAPGLV	1.0	3.0	unscreened	-	4000_10:50533495-50533495 C>T_NFPSMPLVGEGDWVKAPPDAAPGLV
3:99513289-99513289 G>A	0.0	4000	MELANOMA	-	-	-	-	COL8A1	uc003dti.1,p.G183R|NM_001850,p.G182R|ENST00000273342,p.G182R|uc003dtg.2,p.G182R|ENST00000261037,p.G182R|uc003dth.2,p.G182R|NM_020351,p.G182R	protein_coding, processed_transcript	uc003dti.1	nonsynonymous SNV	exon3	c.G547A	p.G183R	GAMGMPGAKGEIGQKGEIGPMGIPG	GAMGMPGAKGEIRQKGEIGPMGIPG	6.0	2.0	unscreened	-	4000_3:99513289-99513289 G>A_GAMGMPGAKGEIRQKGEIGPMGIPG
8:87588234-87588234 C>T	0.0	4000	MELANOMA	-	-	-	-	CNGB3	uc003ydx.3,p.G743E|uc010maj.3,p.G600E|NM_019098,p.G743E|ENST00000320005,p.G743E	protein_coding, processed_transcript	uc010maj.3	nonsynonymous SNV	exon15	c.G1799A	p.G600E	EDKGKENEDKDKGREPEEKPLDRPE	EDKGKENEDKDKEREPEEKPLDRPE	1.0	2.0	unscreened	-	4000_8:87588234-87588234 C>T_EDKGKENEDKDKEREPEEKPLDRPE
6:7579902-7579902 C>T	0.0	4000	MELANOMA	-	-	-	-	DSP	uc003mxq.1,p.S1160F|uc021yle.1,p.S1160F|uc003mxp.1,p.S1160F|ENST00000418664,p.S1160F|ENST00000379802,p.S1160F|NM_004415,p.S1160F|NM_001008844,p.S1160F	retained_intron, protein_coding	uc021yle.1	nonsynonymous SNV	exon23	c.C3479T	p.S1160F	CEKENLGWQKLESEKAIKEKEYEIE	CEKENLGWQKLEFEKAIKEKEYEIE	3.0	2.0	unscreened	-	4000_6:7579902-7579902 C>T_CEKENLGWQKLEFEKAIKEKEYEIE
9:134165470-134165470 C>T	0.0	4000	MELANOMA	-	-	-	-	PPAPDC3	ENST00000372261,p.P29L|NM_032728,p.P29L|ENST00000372264,p.P29L|uc004cal.2,p.P29L	protein_coding	uc004cal.2	nonsynonymous SNV	exon1	c.C86T	p.P29L	LNRAEFLSLNQPPKGGPEPRSSGRK	LNRAEFLSLNQPLKGGPEPRSSGRK	4.0	6.0	unscreened	-	4000_9:134165470-134165470 C>T_LNRAEFLSLNQPLKGGPEPRSSGRK
15:54308083-54308083 G>A	0.0	4000	MELANOMA	-	-	-	-	UNC13C	ENST00000537900,p.D995N|uc021sms.1,p.D995N|NM_001080534,p.D995N|uc021smr.1,p.D995N|ENST00000260323,p.D995N	retained_intron, protein_coding	uc021sms.1	nonsynonymous SNV	exon1	c.G2983A	p.D995N	QMAELEEKILAGDSSSVDEKARIVS	QMAELEEKILAGNSSSVDEKARIVS	1.0	4.0	unscreened	-	4000_15:54308083-54308083 G>A_QMAELEEKILAGNSSSVDEKARIVS
1:152777738-152777738 C>T	0.0	4000	MELANOMA	-	-	ID=COSM1688604;OCCURENCE=1(skin)	-	LCE1C	NM_178351,p.G73S|uc031ppd.1,p.G43S|ENST00000368768,p.G73S|ENST00000607093,p.G73S|uc001fap.1,p.G73S|NM_001276331,p.G43S|uc021ozi.1,p.G73S	protein_coding	uc031ppd.1	nonsynonymous SNV	exon3	c.G127A	p.G43S	GSSSGGCCSSGGGGCCLSHHRRRRS	GSSSGGCCSSGGSGCCLSHHRRRRS	1.0	2.0	unscreened	-	4000_1:152777738-152777738 C>T_GSSSGGCCSSGGSGCCLSHHRRRRS
5:79030952-79030952 C>T	0.0	4000	MELANOMA	-	-	-	-	CMYA5	ENST00000446378,p.P2122S|NM_153610,p.P2122S|uc003kgc.3,p.P2122S	retained_intron, protein_coding, processed_transcript	uc003kgc.3	nonsynonymous SNV	exon2	c.C6364T	p.P2122S	SKVIDDADEGKKPSPEVKIPTQRKP	SKVIDDADEGKKSSPEVKIPTQRKP	3.0	8.0	unscreened	-	4000_5:79030952-79030952 C>T_SKVIDDADEGKKSSPEVKIPTQRKP
20:49221310-49221310 G>A	0.0	4000	MELANOMA	-	-	-	-	FAM65C	uc002xvm.3,p.P316S|NM_001290268,p.P320S|uc002xvn.1,p.P316S|ENST00000535356,p.P320S|ENST00000045083,p.P316S|NM_080829,p.P316S|uc010zyt.2,p.P320S|ENST00000327979,p.P316S	retained_intron, protein_coding, processed_transcript	uc010zyt.2	nonsynonymous SNV	exon12	c.C958T	p.P320S	GTIKLQLEVQWNPFDTESFLVSPSP	GTIKLQLEVQWNSFDTESFLVSPSP	3.0	4.0	unscreened	-	4000_20:49221310-49221310 G>A_GTIKLQLEVQWNSFDTESFLVSPSP
7:128494700-128494700 G>A	0.0	4000	MELANOMA	-	-	-	-	FLNC	NM_001458,p.G2321S|ENST00000346177,p.G2288S|uc003vnz.4,p.G2321S|NM_001127487,p.G2288S|uc003voa.4,p.G2288S|ENST00000325888,p.G2321S	retained_intron, protein_coding	uc003voa.4	nonsynonymous SNV	exon40	c.G6862A	p.G2288S	LGEGGAHKVRAGGTGLERGVAGVPA	LGEGGAHKVRAGSTGLERGVAGVPA	3.0	2.0	unscreened	-	4000_7:128494700-128494700 G>A_LGEGGAHKVRAGSTGLERGVAGVPA
19:22155777-22155777 G>A	0.0	4000	MELANOMA	-	-	-	-	ZNF208	uc021urr.1,p.H687Y|NM_007153,p.H687Y|ENST00000397126,p.H687Y	protein_coding	uc021urr.1	nonsynonymous SNV	exon4	c.C2059T	p.H687Y	SKFSILTKHKVIHTGEKPYKCEECG	SKFSILTKHKVIYTGEKPYKCEECG	4.0	2.0	unscreened	-	4000_19:22155777-22155777 G>A_SKFSILTKHKVIYTGEKPYKCEECG
1:119935251-119935251 G>A	0.0	4000	MELANOMA	-	-	-	-	HAO2	ENST00000361035,p.G327D|uc001ehr.1,p.G314D|NM_001005783,p.G327D|uc001ehq.1,p.G314D|ENST00000325945,p.G314D|NM_016527,p.G314D	protein_coding, processed_transcript	uc001ehr.1	nonsynonymous SNV	exon7	c.G941A	p.G314D	PILWGLACKGEHGVKEVLNILTNEF	PILWGLACKGEHDVKEVLNILTNEF	2.0	8.0	unscreened	-	4000_1:119935251-119935251 G>A_PILWGLACKGEHDVKEVLNILTNEF
11:40137376-40137376 C>T	0.0	4000	MELANOMA	-	-	ID=COSM232722;OCCURENCE=1(skin),1(lung)	-	LRRC4C	NM_001258419,p.R156Q|uc021qgf.1,p.R156Q|uc001mxb.2,p.R152Q|uc031pzt.1,p.R156Q|ENST00000528697,p.R156Q|uc031pzu.1,p.R156Q|ENST00000527150,p.R156Q|ENST00000530763,p.R156Q|uc031pzs.1,p.R152Q|ENST00000278198,p.R156Q|NM_020929,p.R156Q	protein_coding, processed_transcript	uc031pzu.1	nonsynonymous SNV	exon5	c.G467A	p.R156Q	FVYLSKLKELWLRNNPIESIPSYAF	FVYLSKLKELWLQNNPIESIPSYAF	3.0	5.0	unscreened	-	4000_11:40137376-40137376 C>T_FVYLSKLKELWLQNNPIESIPSYAF
3:38738863-38738863 C>T	0.0	4000	MELANOMA	-	-	ID=COSM1692556;OCCURENCE=1(skin)	-	SCN10A	NM_006514,p.E1950K|NM_001293306,p.E1949K|ENST00000449082,p.E1950K|uc003ciq.3,p.E1950K|NM_001293307,p.E1852K	protein_coding	uc003ciq.3	nonsynonymous SNV	exon27	c.G5848A	p.E1950K	SSIQNEDEATSMELIAPGP	SSIQNEDEATSMKLIAPGP	1.0	7.0	unscreened	-	4000_3:38738863-38738863 C>T_SSIQNEDEATSMKLIAPGP
17:47246977-47246977 G>A	0.0	4000	MELANOMA	-	-	-	-	B4GALNT2	uc010wlt.1,p.E444K|ENST00000504681,p.E444K|uc002ion.2,p.E530K|ENST00000393354,p.E470K|NM_153446,p.E530K|uc010wlu.1,p.E470K|ENST00000300404,p.E530K|NM_001159387,p.E470K|NM_001159388,p.E444K	protein_coding	uc010wlu.1	nonsynonymous SNV	exon11	c.G1408A	p.E470K	IGHQSRSPVVDSELAALEKTYNTYR	IGHQSRSPVVDSKLAALEKTYNTYR	1.0	5.0	unscreened	-	4000_17:47246977-47246977 G>A_IGHQSRSPVVDSKLAALEKTYNTYR
3:197880177-197880177 G>A	0.0	4000	MELANOMA	-	-	-	-	FAM157A	uc011bup.1,p.D86N|NM_001145248,p.D86N	protein_coding	uc011bup.1	nonsynonymous SNV	exon2	c.G256A	p.D86N	QQQQQQQQQQQLDLLFHQRIQISLW	QQQQQQQQQQQLNLLFHQRIQISLW	3.0	5.0	unscreened	-	4000_3:197880177-197880177 G>A_QQQQQQQQQQQLNLLFHQRIQISLW
9:37719151-37719151 T>G	0.0	4000	MELANOMA	-	-	-	-	FRMPD1	ENST00000541302,p.V34G|ENST00000539465,p.V165G|uc004aah.1,p.V165G|uc011lqn.2,p.V34G|NM_014907,p.V165G|ENST00000377765,p.V165G|uc004aag.1,p.V165G	protein_coding	uc011lqn.2	nonsynonymous SNV	exon2	c.T101G	p.V34G	KTNPVKVHFAEEVLISGHSQGNSLL	KTNPVKVHFAEEGLISGHSQGNSLL	1.0	3.0	unscreened	-	4000_9:37719151-37719151 T>G_KTNPVKVHFAEEGLISGHSQGNSLL
6:49518911-49518911 C>G	0.0	4000	MELANOMA	-	-	-	-	C6orf141	NM_001145652,p.R136G|uc011dwo.2,p.R136G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dwo.2	nonsynonymous SNV	exon1	c.C406G	p.R136G	HGEEPNYPSVFQREKRISGRRVAPP	HGEEPNYPSVFQGEKRISGRRVAPP	2.0	2.0	unscreened	-	4000_6:49518911-49518911 C>G_HGEEPNYPSVFQGEKRISGRRVAPP
16:61687943-61687943 C>T	0.0	4000	MELANOMA	-	-	-	-	CDH8	ENST00000299345,p.D657N|uc002eog.2,p.D657N|NM_001796,p.D657N|ENST00000577730,p.D657N|ENST00000577390,p.D657N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002eog.2	nonsynonymous SNV	exon12	c.G1969A	p.D657N	RRHKNEPLIIKDDEDVRENIIRYDD	RRHKNEPLIIKDNEDVRENIIRYDD	1.0	8.0	unscreened	-	4000_16:61687943-61687943 C>T_RRHKNEPLIIKDNEDVRENIIRYDD
6:31079573-31079573 C>T	0.0	4000	MELANOMA	-	-	-	-	C6orf15	ENST00000259870,p.G188E|uc003nsk.1,p.G188E|NM_014070,p.G188E	protein_coding	uc003nsk.1	nonsynonymous SNV	exon2	c.G563A	p.G188E	RRLPRSNSLGAGGKILSQRPPWSLI	RRLPRSNSLGAGEKILSQRPPWSLI	1.0	4.0	unscreened	-	4000_6:31079573-31079573 C>T_RRLPRSNSLGAGEKILSQRPPWSLI
10:48416594-48416594 C>T	0.0	4000	MELANOMA	-	-	-	-	GDF2	uc001jfa.1,p.G34R|ENST00000249598,p.G34R|NM_016204,p.G34R	protein_coding	uc001jfa.1	nonsynonymous SNV	exon1	c.G100A	p.G34R	GKPLQSWGRGSAGGNAHSPLGVPGG	GKPLQSWGRGSARGNAHSPLGVPGG	1.0	2.0	unscreened	-	4000_10:48416594-48416594 C>T_GKPLQSWGRGSARGNAHSPLGVPGG
11:18733739-18733739 G>A	0.0	4000	MELANOMA	-	-	-	-	IGSF22	uc009yht.2,p.T763I|ENST00000513874,p.T763I|NM_173588,p.T763I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009yht.2	nonsynonymous SNV	exon15	c.C2288T	p.T763I	IGEVDGKVTNFSTNKVEEGKAYQFR	IGEVDGKVTNFSINKVEEGKAYQFR	1.0	2.0	unscreened	-	4000_11:18733739-18733739 G>A_IGEVDGKVTNFSINKVEEGKAYQFR
1:197390634-197390634 C>T	0.0	4000	MELANOMA	-	-	ID=COSM1721743;OCCURENCE=2(NS)	-	CRB1	uc001gub.1,p.S208F|ENST00000367400,p.S559F|uc010ppb.2,p.S559F|uc001gtz.3,p.S559F|ENST00000543483,p.S258F|ENST00000538660,p.S559F|uc009wza.3,p.S447F|uc010poz.2,p.S490F|NM_001193640,p.S447F|uc010ppd.2,p.S40F|NM_201253,p.S559F|NM_001257965,p.S490F|NM_001257966,p.S559F|ENST00000544212,p.S40F|ENST00000484075,p.S559F|ENST00000535699,p.S490F|ENST00000367399,p.S447F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ppd.2	nonsynonymous SNV	exon2	c.C119T	p.S40F	QVNNQSKVLLFISHNTSDGEWHFVE	QVNNQSKVLLFIFHNTSDGEWHFVE	2.0	7.0	unscreened	-	4000_1:197390634-197390634 C>T_QVNNQSKVLLFIFHNTSDGEWHFVE
15:72699034-72699034 T>A	0.0	4000	MELANOMA	-	-	-	-	TMEM202	uc002auq.3,p.N143K|ENST00000341689,p.N143K|NM_001080462,p.N143K	protein_coding, nonsense_mediated_decay	uc002auq.3	nonsynonymous SNV	exon3	c.T429A	p.N143K	TGLGWLFSSWILNRGSMTTNLDLKV	TGLGWLFSSWILKRGSMTTNLDLKV	1.0	5.0	unscreened	-	4000_15:72699034-72699034 T>A_TGLGWLFSSWILKRGSMTTNLDLKV
18:31523130-31523130 G>A	0.0	4000	MELANOMA	-	-	-	-	NOL4	uc010xbu.2,p.P417S|ENST00000590712,p.P401S|uc010dmh.3,p.P343S|ENST00000586553,p.P166S|NM_001282527,p.P262S|NM_001198546,p.P417S|uc002kxr.4,p.P253S|ENST00000535475,p.P262S|uc010xbv.1,p.P166S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010xbv.1	nonsynonymous SNV	exon4	c.C496T	p.P166S	AERLKAFNSRPIPSHLTSAVAESIL	AERLKAFNSRPISSHLTSAVAESIL	1.0	7.0	unscreened	-	4000_18:31523130-31523130 G>A_AERLKAFNSRPISSHLTSAVAESIL
4:62598645-62598645 G>A	0.0	4000	MELANOMA	-	-	-	-	LPHN3	ENST00000512091,p.D190N|uc003hcs.1,p.D19N|ENST00000507164,p.D258N|ENST00000506700,p.D190N|ENST00000504896,p.D190N|ENST00000545650,p.D190N|ENST00000508693,p.D258N|ENST00000506746,p.D258N|uc010ihh.3,p.D190N|ENST00000514996,p.D190N|ENST00000507625,p.D258N|ENST00000508946,p.D190N|uc003hcq.4,p.D190N|ENST00000514591,p.D190N|ENST00000506720,p.D258N|uc010ihg.1,p.D258N|NM_015236,p.D190N|ENST00000509896,p.D258N|ENST00000511324,p.D258N|ENST00000514157,p.D190N	retained_intron, protein_coding, processed_transcript	uc010ihh.3	nonsynonymous SNV	exon5	c.G568A	p.D190N	RTDTLTEYSSKDDFIAGRPTTTYKL	RTDTLTEYSSKDNFIAGRPTTTYKL	2.0	6.0	unscreened	-	4000_4:62598645-62598645 G>A_RTDTLTEYSSKDNFIAGRPTTTYKL
16:70954777-70954777 G>A	0.0	4000	MELANOMA	-	-	-	-	HYDIN	NM_001270974,p.P2501L|uc031qwy.1,p.P2501L|ENST00000393567,p.P2501L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon46	c.C7502T	p.P2501L	EAPHEPDDQRQVPLGGRRGRKDRER	EAPHEPDDQRQVLLGGRRGRKDRER	3.0	2.0	unscreened	-	4000_16:70954777-70954777 G>A_EAPHEPDDQRQVLLGGRRGRKDRER
6:73904334-73904334 C>T	0.0	4000	MELANOMA	-	-	-	-	KCNQ5	uc003pgk.3,p.L666F|ENST00000414165,p.L556F|NM_001160130,p.L657F|uc010kat.3,p.L657F|uc011dyi.2,p.L676F|ENST00000355194,p.L666F|ENST00000342056,p.L685F|NM_001160132,p.L676F|ENST00000370398,p.L666F|ENST00000403813,p.L657F|NM_001160134,p.L556F|uc011dyh.2,p.L685F|uc011dyj.2,p.L556F|uc011dyk.2,p.L416F|NM_019842,p.L666F|NM_001160133,p.L685F|ENST00000355635,p.L667F|ENST00000402622,p.L676F	protein_coding	uc011dyk.2	nonsynonymous SNV	exon12	c.C1246T	p.L416F	TSDYQSPVDSKDLSGSAQNSGCLSR	TSDYQSPVDSKDFSGSAQNSGCLSR	4.0	2.0	unscreened	-	4000_6:73904334-73904334 C>T_TSDYQSPVDSKDFSGSAQNSGCLSR
6:49518911-49518911 C>G	0.0	4000	MELANOMA	-	-	-	-	C6orf141	ENST00000529246,p.R136G|ENST00000414696,p.R136G|ENST00000371194,p.R136G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000529246	nonsynonymous SNV	exon1	c.C406G	p.R136G	HGEEPNYPSVFQRQKRISGRRVAPP	HGEEPNYPSVFQGQKRISGRRVAPP	2.0	2.0	unscreened	-	4000_6:49518911-49518911 C>G_HGEEPNYPSVFQGQKRISGRRVAPP
19:1468720-1468720 G>A	0.0	4000	MELANOMA	-	-	-	-	APC2	uc002lss.1,p.G1389E|uc002lsr.1,p.G1807E|ENST00000238483,p.G1533E|NM_005883,p.G1807E|uc002lsu.1,p.G1806E|uc002lst.1,p.G1807E|ENST00000233607,p.G1807E|ENST00000535453,p.G1807E	retained_intron, protein_coding	uc002lsu.1	nonsynonymous SNV	exon14	c.G5417A	p.G1806E	YVPSPAPRAQPKGTPGPRATPRKVA	YVPSPAPRAQPKETPGPRATPRKVA	5.0	7.0	unscreened	-	4000_19:1468720-1468720 G>A_YVPSPAPRAQPKETPGPRATPRKVA
8:55539308-55539308 G>A	0.0	4000	MELANOMA	-	-	-	-	RP1	uc003xsd.1,p.D956N|ENST00000220676,p.D956N|NM_006269,p.D956N	protein_coding	uc003xsd.1	nonsynonymous SNV	exon4	c.G2866A	p.D956N	VVNCSNNSFSGNDPHTNSGKISNFV	VVNCSNNSFSGNNPHTNSGKISNFV	1.0	2.0	unscreened	-	4000_8:55539308-55539308 G>A_VVNCSNNSFSGNNPHTNSGKISNFV
8:55541382-55541382 T>G	0.0	4000	MELANOMA	-	-	-	-	RP1	uc003xsd.1,p.F1647C|NM_006269,p.F1647C|ENST00000220676,p.F1647C	protein_coding	uc003xsd.1	nonsynonymous SNV	exon4	c.T4940G	p.F1647C	LYGKADIIKPSFFPGSTRKSQVCPY	LYGKADIIKPSFCPGSTRKSQVCPY	1.0	2.0	unscreened	-	4000_8:55541382-55541382 T>G_LYGKADIIKPSFCPGSTRKSQVCPY
4:167658641-167658641 C>T	0.0	4000	MELANOMA	-	-	-	-	SPOCK3	ENST00000511531,p.R373K|uc011cjs.1,p.R322K|NM_001251967,p.R275K|ENST00000504953,p.R370K|ENST00000357154,p.R373K|uc011cjq.1,p.R382K|NM_001204352,p.R322K|ENST00000421836,p.R322K|ENST00000512681,p.R275K|ENST00000506886,p.R373K|uc011cjp.2,p.R330K|ENST00000510741,p.R330K|ENST00000357545,p.R370K|uc011cjr.1,p.R253K|ENST00000541637,p.R275K|uc003iri.1,p.R373K|uc021xuf.1,p.R373K|NM_016950,p.R373K|NM_001204355,p.R277K|NM_001204354,p.R281K|uc011cju.1,p.R277K|ENST00000541354,p.R253K|ENST00000502330,p.R373K|ENST00000535728,p.R241K|NM_001040159,p.R370K|ENST00000534949,p.R277K|NM_001204356,p.R330K|uc011cjt.1,p.R281K|ENST00000511269,p.R370K|uc011cjv.1,p.R275K|uc003irj.1,p.R370K|NM_001204353,p.R253K	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xuf.1	nonsynonymous SNV	exon10	c.G1118A	p.R373K	CVDRYGNEVMGSRINGVADCAIDFE	CVDRYGNEVMGSKINGVADCAIDFE	1.0	6.0	unscreened	-	4000_4:167658641-167658641 C>T_CVDRYGNEVMGSKINGVADCAIDFE
10:96448013-96448013 G>A	0.0	4000	MELANOMA	-	-	-	-	CYP2C18	NM_001128925,p.E155K|uc001kjv.4,p.E155K|NM_000772,p.E155K|ENST00000285979,p.E155K|uc009xus.1,p.E20K|ENST00000339022,p.E155K|uc001kjw.4,p.E155K	protein_coding, processed_transcript	uc009xus.1	nonsynonymous SNV	exon1	c.G58A	p.E20K	DRVQEEARCLVEELRKTNASPCDPT	DRVQEEARCLVEKLRKTNASPCDPT	1.0	3.0	unscreened	-	4000_10:96448013-96448013 G>A_DRVQEEARCLVEKLRKTNASPCDPT
14:100141508-100141508 G>A	0.0	4000	MELANOMA	-	-	-	-	HHIPL1	uc010avs.3,p.A632T|NM_001127258,p.A632T|ENST00000330710,p.A632T	protein_coding	uc010avs.3	nonsynonymous SNV	exon9	c.G1894A	p.A632T	APTRAPRRGRPTAAPPAPTPRPARP	APTRAPRRGRPTTAPPAPTPRPARP	3.0	2.0	unscreened	-	4000_14:100141508-100141508 G>A_APTRAPRRGRPTTAPPAPTPRPARP
22:36124929-36124929 G>C	0.0	4000	MELANOMA	-	-	-	-	APOL5	NM_030642,p.G429A|ENST00000249044,p.G429A|uc003aof.3,p.G429A	protein_coding	uc003aof.3	nonsynonymous SNV	exon4	c.G1286C	p.G429A	PPAPARKGRQAPGRHRQ	PPAPARKGRQAPARHRQ	1.0	2.0	unscreened	-	4000_22:36124929-36124929 G>C_PPAPARKGRQAPARHRQ
17:72916216-72916216 T>G	0.0	4000	MELANOMA	0.0005	-	-	-	USH1G	ENST00000319642,p.K239Q|NM_173477,p.K239Q|uc010wro.1,p.K136Q|NM_001282489,p.K136Q|uc002jme.1,p.K239Q	protein_coding, nonsense_mediated_decay	uc010wro.1	nonsynonymous SNV	exon2	c.A406C	p.K136Q	GEGTFKVSEDGRKSARSLSGLQLGS	GEGTFKVSEDGRQSARSLSGLQLGS	1.0	3.0	unscreened	-	4000_17:72916216-72916216 T>G_GEGTFKVSEDGRQSARSLSGLQLGS
2:179783463-179783463 C>T	0.0	4000	MELANOMA	-	-	-	-	CCDC141	uc002une.2,p.E357K|uc002ung.3,p.E357K|ENST00000420890,p.E357K|NM_173648,p.E357K|ENST00000443758,p.E357K|ENST00000409284,p.E357K	protein_coding, processed_transcript	uc002ung.3	nonsynonymous SNV	exon7	c.G1069A	p.E357K	MVERNTWLKKANEFFNSANKAFDVL	MVERNTWLKKANKFFNSANKAFDVL	5.0	8.0	unscreened	-	4000_2:179783463-179783463 C>T_MVERNTWLKKANKFFNSANKAFDVL
20:5903715-5903715 G>A	0.0	4000	MELANOMA	-	-	-	-	CHGB	ENST00000378961,p.E309K|NM_001819,p.E309K|uc002wmg.3,p.E309K	protein_coding, processed_transcript	uc002wmg.3	nonsynonymous SNV	exon4	c.G925A	p.E309K	GSLPSEEKGHPQEESEESNVSMASL	GSLPSEEKGHPQKESEESNVSMASL	2.0	8.0	unscreened	-	4000_20:5903715-5903715 G>A_GSLPSEEKGHPQKESEESNVSMASL
7:31867972-31867972 C>T	0.0	4000	MELANOMA	-	-	-	-	PDE1C	ENST00000321453,p.E407K|ENST00000396191,p.E407K|NM_001191056,p.E407K|ENST00000396182,p.E407K|uc003tcn.1,p.E407K|ENST00000396184,p.E407K|NM_001191058,p.E467K|uc003tco.2,p.E467K|uc003tcs.3,p.E407K|ENST00000396193,p.E467K|NM_005020,p.E407K|uc003tcr.3,p.E407K|uc003tcm.2,p.E407K|NM_001191057,p.E407K|NM_001191059,p.E407K	retained_intron, protein_coding, processed_transcript	uc003tcs.3	nonsynonymous SNV	exon13	c.G1219A	p.E407K	LEEFFRQGDREAELGLPFSPLCDRK	LEEFFRQGDREAKLGLPFSPLCDRK	4.0	4.0	unscreened	-	4000_7:31867972-31867972 C>T_LEEFFRQGDREAKLGLPFSPLCDRK
11:63683862-63683862 C>T	0.0	4000	MELANOMA	-	-	-	-	RCOR2	NM_173587,p.V23M|uc001nyc.3,p.V23M|ENST00000301459,p.V23M	retained_intron, protein_coding, processed_transcript	uc001nyc.3	nonsynonymous SNV	exon1	c.G67A	p.V23M	GSGILSRSRAKTVPNGGQPHSEDDS	GSGILSRSRAKTMPNGGQPHSEDDS	3.0	3.0	unscreened	-	4000_11:63683862-63683862 C>T_GSGILSRSRAKTMPNGGQPHSEDDS
6:25862508-25862508 C>T	0.0	4000	MELANOMA	-	-	-	-	SLC17A3	NM_006632,p.D86N|ENST00000360657,p.D86N|ENST00000449356,p.D86N|NM_001098486,p.D86N|uc011djz.1,p.D86N|uc003nfk.4,p.D86N|ENST00000506105,p.D86N|uc003nfi.4,p.D86N|ENST00000397060,p.D86N|uc011dka.1,p.D86N|ENST00000361703,p.D86N	retained_intron, protein_coding, nonsense_mediated_decay	uc011dka.1	nonsynonymous SNV	exon3	c.G256A	p.D86N	SQLNDSSEVLPVDSFGGLSKAPKSL	SQLNDSSEVLPVNSFGGLSKAPKSL	1.0	3.0	unscreened	-	4000_6:25862508-25862508 C>T_SQLNDSSEVLPVNSFGGLSKAPKSL
12:54963070-54963070 G>A	0.0	4000	MELANOMA	-	-	-	-	PDE1B	ENST00000550285,p.G131E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000550285	nonsynonymous SNV	exon4	c.G392A	p.G131E	GTGWPPPSPSRPGPKAAEQRRSPSS	GTGWPPPSPSRPEPKAAEQRRSPSS	5.0	8.0	unscreened	-	4000_12:54963070-54963070 G>A_GTGWPPPSPSRPEPKAAEQRRSPSS
19:51021145-51021145 G>A	0.0	4000	MELANOMA	-	-	-	-	LRRC4B	ENST00000599957,p.H609Y|uc002pss.3,p.H609Y|NM_001080457,p.H609Y|ENST00000389201,p.H609Y	protein_coding	uc002pss.3	nonsynonymous SNV	exon3	c.C1825T	p.H609Y	YKLRKQHQLHKHHGPTRTVEIINVE	YKLRKQHQLHKHYGPTRTVEIINVE	1.0	7.0	unscreened	-	4000_19:51021145-51021145 G>A_YKLRKQHQLHKHYGPTRTVEIINVE
2:179470369-179470369 C>T	1.0	4000	MELANOMA	-	-	-	-	TTN	uc021vtb.2,p.E8820K|NM_133437,p.E9012K|uc031rqc.1,p.E17885K|ENST00000359218,p.E8945K|NM_001256850,p.E16244K|NM_133432,p.E8945K|NM_133378,p.E15317K|NM_001267550,p.E17885K|uc021vsz.2,p.E9012K|NM_003319,p.E8820K|ENST00000342175,p.E9012K|uc021vta.2,p.E8945K|ENST00000460472,p.E8820K|ENST00000589042,p.E17885K|uc031rqd.1,p.E16244K|ENST00000591111,p.E16244K|uc021vsy.2,p.E15317K|ENST00000342992,p.E15317K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon229	c.G48730A	p.E16244K	ERTKSTITLDWKEPRSNGGSPIQGY	ERTKSTITLDWKKPRSNGGSPIQGY	6.0	6.0	-	-	4000_2:179470369-179470369 C>T_ERTKSTITLDWKKPRSNGGSPIQGY
5:13753599-13753599 G>A	0.0	4000	MELANOMA	-	-	ID=COSM1695413;OCCURENCE=3(skin)	-	DNAH5	ENST00000265104,p.R3539C|NM_001369,p.R3539C|uc003jfd.2,p.R3539C	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon63	c.C10615T	p.R3539C	FLSYSGPFNQEFRDLLLNDWRKEMK	FLSYSGPFNQEFCDLLLNDWRKEMK	2.0	7.0	unscreened	-	4000_5:13753599-13753599 G>A_FLSYSGPFNQEFCDLLLNDWRKEMK
2:179613212-179613212 C>T	0.0	4000	MELANOMA	-	-	-	-	TTN	ENST00000360870,p.E4639K|NM_133379,p.E4639K|uc002unb.3,p.E4639K	retained_intron, protein_coding	uc002unb.3	nonsynonymous SNV	exon46	c.G13915A	p.E4639K	DPALEFQGQETREQQEIHYKEKIPS	DPALEFQGQETRKQQEIHYKEKIPS	6.0	5.0	unscreened	-	4000_2:179613212-179613212 C>T_DPALEFQGQETRKQQEIHYKEKIPS
16:69143803-69143803 G>A	0.0	4000	MELANOMA	-	-	-	-	HAS3	uc002ewk.3,p.E169K|ENST00000566118,p.E169K|uc002ewl.3,p.E169K|NM_001199280,p.E169K|ENST00000219322,p.E169K|NM_138612,p.E169K|uc010cfh.3,p.E169K|ENST00000569188,p.E169K|uc010vlk.1,p.E169K|ENST00000306560,p.E169K|NM_005329,p.E169K	protein_coding, processed_transcript	uc010vlk.1	nonsynonymous SNV	exon2	c.G505A	p.E169K	EAGEGETEASLQEGMDRVRDVVRAS	EAGEGETEASLQKGMDRVRDVVRAS	4.0	3.0	unscreened	-	4000_16:69143803-69143803 G>A_EAGEGETEASLQKGMDRVRDVVRAS
7:141919796-141919796 C>T	0.0	4000	MELANOMA	-	-	-	-	LOC93432	NM_001293626,p.P1829S|ENST00000477922,p.P1829S	retained_intron, protein_coding	NM_001293626	nonsynonymous SNV	exon48	c.C5485T	p.P1829S	PTKTSTIPMSSHPSPSTTNATSSET	PTKTSTIPMSSHSSPSTTNATSSET	3.0	2.0	unscreened	-	4000_7:141919796-141919796 C>T_PTKTSTIPMSSHSSPSTTNATSSET
8:139788225-139788225 C>T	0.0	4000	MELANOMA	-	-	-	-	COL22A1	ENST00000435777,p.G596E|uc003yvd.3,p.G596E|ENST00000303045,p.G596E|NM_152888,p.G596E	protein_coding, processed_transcript	uc003yvd.3	nonsynonymous SNV	exon16	c.G1787A	p.G596E	GAPGLQGERGEKGTRGEKGERGLDG	GAPGLQGERGEKETRGEKGERGLDG	4.0	2.0	unscreened	-	4000_8:139788225-139788225 C>T_GAPGLQGERGEKETRGEKGERGLDG
3:138724786-138724786 C>T	0.0	4000	MELANOMA	-	-	-	-	PRR23A	NM_001134659,p.D109N|uc011bms.2,p.D109N|ENST00000383163,p.D109N	protein_coding	uc011bms.2	nonsynonymous SNV	exon1	c.G325A	p.D109N	LILIPEVLLSSVDERSGAQDDSSAG	LILIPEVLLSSVNERSGAQDDSSAG	1.0	8.0	unscreened	-	4000_3:138724786-138724786 C>T_LILIPEVLLSSVNERSGAQDDSSAG
7:53103819-53103819 G>A	0.0	4000	MELANOMA	-	-	-	-	POM121L12	ENST00000408890,p.R152K|NM_182595,p.R152K|uc003tpz.3,p.R152K	protein_coding	uc003tpz.3	nonsynonymous SNV	exon1	c.G455A	p.R152K	GIAPPERQESPWRSPGQRARPAGRP	GIAPPERQESPWKSPGQRARPAGRP	1.0	3.0	unscreened	-	4000_7:53103819-53103819 G>A_GIAPPERQESPWKSPGQRARPAGRP
11:70333144-70333144 G>A	0.0	4000	MELANOMA	-	-	-	-	SHANK2	uc010rqn.2,p.A495V	protein_coding, processed_transcript	uc010rqn.2	nonsynonymous SNV	exon9	c.C1484T	p.A495V	SLTVSSPFAAAIAGAVRDREKRLEA	SLTVSSPFAAAIVGAVRDREKRLEA	5.0	5.0	unscreened	-	4000_11:70333144-70333144 G>A_SLTVSSPFAAAIVGAVRDREKRLEA
5:13753355-13753355 C>T	0.0	4000	MELANOMA	-	-	ID=COSM1695411;OCCURENCE=1(large_intestine),3(skin)	-	DNAH5	uc003jfd.2,p.R3620Q|NM_001369,p.R3620Q|ENST00000265104,p.R3620Q	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon63	c.G10859A	p.R3620Q	TQGKIWIKNKESRNELQITSLNHKY	TQGKIWIKNKESQNELQITSLNHKY	2.0	7.0	unscreened	-	4000_5:13753355-13753355 C>T_TQGKIWIKNKESQNELQITSLNHKY
7:57509998-57509998 G>A	0.0	4000	MELANOMA	-	-	-	-	ZNF716	NM_001159279,p.A2T|uc011kdi.1,p.A2T|ENST00000420713,p.A2T	protein_coding	uc011kdi.1	nonsynonymous SNV	exon1	c.G4A	p.A2T	MAKRPGPPGSREMG	MTKRPGPPGSREMG	1.0	2.0	unscreened	-	4000_7:57509998-57509998 G>A_MTKRPGPPGSREMG
4:121774692-121774692 G>A	0.0	4000	MELANOMA	-	-	-	-	PRDM5	NM_018699,p.R61C|uc003idp.1,p.R61C|NM_001300823,p.R61C|uc010inf.3,p.R61C|uc010ine.3,p.R61C|uc003idn.3,p.R61C|ENST00000264808,p.R61C|NM_001300824,p.R61C|ENST00000394435,p.R61C|uc003ido.3,p.R61C|ENST00000515109,p.R61C|ENST00000428209,p.R61C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010inf.3	nonsynonymous SNV	exon3	c.C181T	p.R61C	DENMDYRLMWEVRGSKGEVLYILDA	DENMDYRLMWEVCGSKGEVLYILDA	4.0	3.0	unscreened	-	4000_4:121774692-121774692 G>A_DENMDYRLMWEVCGSKGEVLYILDA
18:12097658-12097658 G>C	0.0	4000	MELANOMA	-	-	-	-	ANKRD62	NM_001277333,p.A212P|ENST00000586406,p.A212P|uc031rhk.1,p.A212P|ENST00000314074,p.A198P	protein_coding	uc031rhk.1	nonsynonymous SNV	exon5	c.G634C	p.A212P	IDNFGRTALILAARNGSTSVVYQLL	IDNFGRTALILAPRNGSTSVVYQLL	1.0	4.0	unscreened	-	4000_18:12097658-12097658 G>C_IDNFGRTALILAPRNGSTSVVYQLL
10:6063459-6063459 C>T	0.0	4000	MELANOMA	-	-	-	-	IL2RA	ENST00000379959,p.E189K|NM_000417,p.E189K|uc001iiz.2,p.E189K	protein_coding, processed_transcript	uc001iiz.2	nonsynonymous SNV	exon4	c.G565A	p.E189K	WTQPQLICTGEMETSQFPGEEKPQA	WTQPQLICTGEMKTSQFPGEEKPQA	7.0	4.0	unscreened	-	4000_10:6063459-6063459 C>T_WTQPQLICTGEMKTSQFPGEEKPQA
17:26692249-26692249 C>T	0.0	4000	MELANOMA	-	-	-	-	SEBOX	ENST00000431468,p.M1I|uc010wai.1,p.M1I	protein_coding	uc010wai.1	nonsynonymous SNV	exon1	c.G3A	p.M1I	MGGSGVGTAWHGP	IGGSGVGTAWHGP	1.0	4.0	unscreened	-	4000_17:26692249-26692249 C>T_IGGSGVGTAWHGP
7:100656381-100656381 A>G	0.0	4000	MELANOMA	-	-	-	-	MUC12	ENST00000379442,p.N5342S|ENST00000305119,p.N16S|uc003uxo.3,p.N5199S|ENST00000536621,p.N5199S|NM_001164462,p.N5199S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon8	c.A15596G	p.N5199S	KCTKGTKSQMNCNLGTCQLQRSGPR	KCTKGTKSQMNCSLGTCQLQRSGPR	2.0	4.0	unscreened	-	4000_7:100656381-100656381 A>G_KCTKGTKSQMNCSLGTCQLQRSGPR
1:40768847-40768847 G>A	0.0	4000	MELANOMA	-	-	-	-	COL9A2	ENST00000372748,p.A520V|NM_001852,p.A520V|uc001cfh.1,p.A520V|uc001cfi.1,p.A339V	retained_intron, protein_coding, processed_transcript	uc001cfi.1	nonsynonymous SNV	exon28	c.C1016T	p.A339V	GQPGRQGVEGRDATDQHIVDVALKM	GQPGRQGVEGRDVTDQHIVDVALKM	4.0	7.0	unscreened	-	4000_1:40768847-40768847 G>A_GQPGRQGVEGRDVTDQHIVDVALKM
6:46726518-46726518 G>A	0.0	4000	MELANOMA	-	-	-	-	ANKRD66	ENST00000536046,p.D177N|NM_001162435,p.D206N|ENST00000565422,p.D206N|uc011dwf.2,p.D206N	protein_coding	uc011dwf.2	nonsynonymous SNV	exon5	c.G616A	p.D206N	HRCAAQQKGLPLDERDEDWDAKKRE	HRCAAQQKGLPLNERDEDWDAKKRE	2.0	3.0	unscreened	-	4000_6:46726518-46726518 G>A_HRCAAQQKGLPLNERDEDWDAKKRE
3:133663964-133663964 A>G	0.0	4000	MELANOMA	-	-	-	-	SLCO2A1	uc003eqa.4,p.M479T|NM_005630,p.M479T|uc011blv.2,p.M298T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011blv.2	nonsynonymous SNV	exon6	c.T893C	p.M298T	LSPCHAGCSNINMSSATSKQLIYLN	LSPCHAGCSNINTSSATSKQLIYLN	4.0	8.0	unscreened	-	4000_3:133663964-133663964 A>G_LSPCHAGCSNINTSSATSKQLIYLN
18:47518794-47518794 C>T	0.0	4000	MELANOMA	-	-	-	-	MYO5B	NM_001080467,p.G207E|ENST00000285039,p.G207E|uc002leb.2,p.G207E|uc021ukb.1,p.G206E	retained_intron, protein_coding, processed_transcript	uc021ukb.1	nonsynonymous SNV	exon6	c.G617A	p.G206E	KVLASSPIMEAIGNAKTTRNDNSSR	KVLASSPIMEAIENAKTTRNDNSSR	5.0	4.0	unscreened	-	4000_18:47518794-47518794 C>T_KVLASSPIMEAIENAKTTRNDNSSR
14:50785954-50785954 G>A	0.0	4000	MELANOMA	-	-	-	-	ATP5S	ENST00000358473,p.M1I|uc010ant.2,p.M1I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ant.2	nonsynonymous SNV	exon1	c.G3A	p.M1I	MIRGSGAEACSNE	IIRGSGAEACSNE	6.0	2.0	unscreened	-	4000_14:50785954-50785954 G>A_IIRGSGAEACSNE
7:7410447-7410447 A>G	0.0	4000	MELANOMA	-	-	-	-	COL28A1	uc011jxe.1,p.F675S|uc003src.1,p.F992S|NM_001037763,p.F992S|ENST00000399429,p.F992S	retained_intron, protein_coding, nonsense_mediated_decay	uc011jxe.1	nonsynonymous SNV	exon34	c.T2024C	p.F675S	ICEDFDSYLVQIFGSSSPQPGFGMS	ICEDFDSYLVQISGSSSPQPGFGMS	1.0	8.0	unscreened	-	4000_7:7410447-7410447 A>G_ICEDFDSYLVQISGSSSPQPGFGMS
7:7492018-7492018 C>T	0.0	4000	MELANOMA	-	-	-	-	COL28A1	uc011jxe.1,p.G164R|ENST00000399429,p.G481R|NM_001037763,p.G481R|uc003src.1,p.G481R|uc003srd.3,p.G36R	retained_intron, protein_coding, nonsense_mediated_decay	uc011jxe.1	nonsynonymous SNV	exon19	c.G490A	p.G164R	QGPAGQGLPGSKGEVGQMGPTGPRG	QGPAGQGLPGSKREVGQMGPTGPRG	1.0	3.0	unscreened	-	4000_7:7492018-7492018 C>T_QGPAGQGLPGSKREVGQMGPTGPRG
6:55924875-55924875 C>T	0.0	4000	MELANOMA	-	-	-	-	COL21A1	ENST00000535941,p.R850K|uc011dxg.2,p.R223K|uc011dxh.3,p.R216K|NM_030820,p.R850K|uc010jzz.3,p.R235K|uc003pcr.3,p.R207K|ENST00000370808,p.R216K|ENST00000244728,p.R850K|uc003pcs.3,p.R850K|ENST00000370819,p.R847K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxh.3	nonsynonymous SNV	exon15	c.G647A	p.R216K	PEGPRGLPGLPGRDGVPGLVGVPGR	PEGPRGLPGLPGKDGVPGLVGVPGR	4.0	4.0	unscreened	-	4000_6:55924875-55924875 C>T_PEGPRGLPGLPGKDGVPGLVGVPGR
4:265889-265889 C>T	0.0	4000	MELANOMA	-	-	-	-	ZNF732	uc021xka.1,p.E253K|ENST00000419098,p.E253K	protein_coding	uc021xka.1	nonsynonymous SNV	exon4	c.G757A	p.E253K	HKVHTGEKSYKYEECGKAFNRSSTL	HKVHTGEKSYKYKECGKAFNRSSTL	1.0	5.0	unscreened	-	4000_4:265889-265889 C>T_HKVHTGEKSYKYKECGKAFNRSSTL
11:5529102-5529102 C>T	0.0	4000	MELANOMA	-	-	-	-	UBQLN3	uc021qcw.1,p.E563K|ENST00000311659,p.E563K|NM_017481,p.E563K|uc001may.1,p.E563K	protein_coding	uc021qcw.1	nonsynonymous SNV	exon1	c.G1687A	p.E563K	GTGSVAGGIESREDPLMSEDPLPNP	GTGSVAGGIESRKDPLMSEDPLPNP	2.0	2.0	unscreened	-	4000_11:5529102-5529102 C>T_GTGSVAGGIESRKDPLMSEDPLPNP
10:48370728-48370728 G>A	0.0	4000	MELANOMA	-	-	-	-	ZNF488	ENST00000436850,p.G66S|ENST00000444585,p.G66S|uc021ppx.1,p.G66S|ENST00000425196,p.G66S|ENST00000395702,p.G66S|NM_153034,p.G66S|ENST00000433077,p.G66S|uc001jex.3,p.G66S	protein_coding	uc021ppx.1	nonsynonymous SNV	exon1	c.G196A	p.G66S	NRLGPEAAVGRAGRDVGSAELALLV	NRLGPEAAVGRASRDVGSAELALLV	1.0	5.0	unscreened	-	4000_10:48370728-48370728 G>A_NRLGPEAAVGRASRDVGSAELALLV
2:166868764-166868764 C>T	0.0	4000	MELANOMA	-	-	ID=COSM1264973,COSM1264974;OCCURENCE=1(oesophagus)	-	SCN1A	uc002udo.4,p.R1245Q|uc021vsb.1,p.R1234Q|ENST00000375405,p.R1234Q|ENST00000409050,p.R1217Q|NM_001165964,p.R1217Q|ENST00000303395,p.R1245Q|ENST00000423058,p.R1245Q|NM_006920,p.R1234Q|uc010fpk.3,p.R1217Q|NM_001165963,p.R1245Q|NM_001202435,p.R1245Q	retained_intron, protein_coding	uc021vsb.1	nonsynonymous SNV	exon19	c.G3701A	p.R1234Q	GALAFEDIYIDQRKTIKTMLEYADK	GALAFEDIYIDQQKTIKTMLEYADK	2.0	3.0	unscreened	-	4000_2:166868764-166868764 C>T_GALAFEDIYIDQQKTIKTMLEYADK
5:24505311-24505311 G>A	0.0	4000	MELANOMA	-	-	-	2	CDH10	NM_006727,p.H435Y|uc003jgr.2,p.H435Y|ENST00000264463,p.H435Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jgr.2	nonsynonymous SNV	exon8	c.C1303T	p.H435Y	DRHTDLDRIFNIHSGNGSLYTSKPL	DRHTDLDRIFNIYSGNGSLYTSKPL	3.0	4.0	unscreened	-	4000_5:24505311-24505311 G>A_DRHTDLDRIFNIYSGNGSLYTSKPL
11:55999642-55999642 C>T	0.0	4000	MELANOMA	-	-	-	-	OR5T2	NM_001004746,p.M340I|uc010rjc.2,p.M340I|ENST00000313264,p.M340I	protein_coding	uc010rjc.2	nonsynonymous SNV	exon1	c.G1020A	p.M340I	IYSLRNKDVKDSMKKMFGKNQVINK	IYSLRNKDVKDSIKKMFGKNQVINK	1.0	2.0	unscreened	-	4000_11:55999642-55999642 C>T_IYSLRNKDVKDSIKKMFGKNQVINK
3:126272187-126272187 C>T	0.0	4000	MELANOMA	-	-	-	-	C3orf22	NM_152533,p.R16K|uc003ejb.3,p.R16K|ENST00000505070,p.R16K|ENST00000318225,p.R16K	protein_coding, nonsense_mediated_decay	uc003ejb.3	nonsynonymous SNV	exon2	c.G47A	p.R16K	SACKKSHQSKKWRIQAQENFAKKFP	SACKKSHQSKKWKIQAQENFAKKFP	1.0	7.0	unscreened	-	4000_3:126272187-126272187 C>T_SACKKSHQSKKWKIQAQENFAKKFP
3:47164353-47164353 C>A	1.0	4000	MELANOMA	-	-	-	1	SETD2	ENST00000412450,p.Q547H|ENST00000409792,p.Q591H|uc003cqs.3,p.Q591H|NM_014159,p.Q591H|uc003cqv.3,p.Q580H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003cqv.3	nonsynonymous SNV	exon3	c.G1740T	p.Q580H	NEEIKQSHSFSLQTPCSKGSELRMI	NEEIKQSHSFSLHTPCSKGSELRMI	8.0	5.0	-	-	4000_3:47164353-47164353 C>A_NEEIKQSHSFSLHTPCSKGSELRMI
X:77912729-77912729 C>T	0.0	4000	MELANOMA	-	-	-	-	ZCCHC5	ENST00000321110,p.D397N|uc022bzi.1,p.D397N|uc004edc.1,p.D397N|NM_152694,p.D397N	protein_coding	uc022bzi.1	nonsynonymous SNV	exon1	c.G1189A	p.D397N	LITQCISLEEKPDPNPLGKSSSAEG	LITQCISLEEKPNPNPLGKSSSAEG	1.0	9.0	unscreened	-	4000_X:77912729-77912729 C>T_LITQCISLEEKPNPNPLGKSSSAEG
1:26691193-26691193 C>T	0.0	4000	MELANOMA	-	-	ID=COSM3943834,COSM3943833;OCCURENCE=1(ovary)	-	ZNF683	uc001bmg.1,p.D282N|uc009vsj.1,p.D282N|NM_173574,p.D282N|uc001bmh.1,p.D282N|ENST00000436292,p.D282N|ENST00000349618,p.D282N|ENST00000403843,p.D282N|NM_001114759,p.D282N|ENST00000374204,p.D282N	protein_coding	uc009vsj.1	nonsynonymous SNV	exon4	c.G844A	p.D282N	QARNPGAGAAPTDSPGLERGGMASP	QARNPGAGAAPTNSPGLERGGMASP	6.0	3.0	unscreened	-	4000_1:26691193-26691193 C>T_QARNPGAGAAPTNSPGLERGGMASP
19:40996054-40996054 G>A	0.0	4000	MELANOMA	-	-	-	-	SPTBN4	uc002onz.3,p.E132K|ENST00000338932,p.E132K|NM_020971,p.E132K|ENST00000598249,p.E132K|uc002ony.3,p.E132K|ENST00000595535,p.E132K|ENST00000352632,p.E132K|uc002onx.3,p.E132K|ENST00000344104,p.E132K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002onz.3	nonsynonymous SNV	exon4	c.G394A	p.E132K	LENVDKALQFLKEQRVHLENVGSHD	LENVDKALQFLKKQRVHLENVGSHD	4.0	3.0	unscreened	-	4000_19:40996054-40996054 G>A_LENVDKALQFLKKQRVHLENVGSHD
11:70333144-70333144 G>A	0.0	4000	MELANOMA	-	-	-	-	SHANK2	NM_133266,p.A497V|ENST00000409161,p.A489V|uc001opz.3,p.A490V|ENST00000423696,p.A706V|ENST00000294018,p.A709V|ENST00000449833,p.A490V|ENST00000424924,p.A364V|ENST00000338508,p.A1086V	protein_coding, processed_transcript	uc001opz.3	nonsynonymous SNV	exon9	c.C1469T	p.A490V	TVSSPFAAAIAGAVRDREKRLEARR	TVSSPFAAAIAGVVRDREKRLEARR	5.0	5.0	unscreened	-	4000_11:70333144-70333144 G>A_TVSSPFAAAIAGVVRDREKRLEARR
11:92087500-92087500 T>C	0.0	4000	MELANOMA	-	-	-	2	FAT3	ENST00000298047,p.V741A|NM_001008781,p.V741A|uc001pdj.4,p.V741A|ENST00000409404,p.V741A|ENST00000525166,p.V591A|ENST00000541502,p.V741A	retained_intron, protein_coding, processed_transcript	uc001pdj.4	nonsynonymous SNV	exon1	c.T2222C	p.V741A	FPSDVAVKEDLPVGANILKIKAYDA	FPSDVAVKEDLPAGANILKIKAYDA	1.0	7.0	unscreened	-	4000_11:92087500-92087500 T>C_FPSDVAVKEDLPAGANILKIKAYDA
1:158615017-158615017 T>A	1.0	4000	MELANOMA	-	-	-	-	SPTA1	NM_003126,p.E1385D|ENST00000368147,p.E1385D|uc001fst.1,p.E1385D|ENST00000368148,p.E1385D	protein_coding, processed_transcript	uc001fst.1	nonsynonymous SNV	exon29	c.A4155T	p.E1385D	VKLERDDLEKAWEKRKKILDQCLEL	VKLERDDLEKAWDKRKKILDQCLEL	8.0	4.0	-	-	4000_1:158615017-158615017 T>A_VKLERDDLEKAWDKRKKILDQCLEL
5:112769600-112769600 C>T	0.0	4000	MELANOMA	-	-	-	-	TSSK1B	NM_032028,p.E313K|ENST00000390666,p.E313K|uc003kqm.2,p.E313K	protein_coding	uc003kqm.2	nonsynonymous SNV	exon1	c.G937A	p.E313K	EPGSDKKSATKLEPEGEAQPQAQPE	EPGSDKKSATKLKPEGEAQPQAQPE	1.0	8.0	unscreened	-	4000_5:112769600-112769600 C>T_EPGSDKKSATKLKPEGEAQPQAQPE
2:169830289-169830289 C>T	0.0	4000	MELANOMA	-	-	-	-	ABCB11	uc002ueo.1,p.S457N|NM_003742,p.S457N|ENST00000263817,p.S457N	retained_intron, protein_coding, nonsense_mediated_decay	uc002ueo.1	nonsynonymous SNV	exon13	c.G1370A	p.S457N	IKPGEMTALVGPSGAGKSTALQLIQ	IKPGEMTALVGPNGAGKSTALQLIQ	2.0	7.0	unscreened	-	4000_2:169830289-169830289 C>T_IKPGEMTALVGPNGAGKSTALQLIQ
1:166991042-166991042 C>T	0.0	4000	MELANOMA	-	-	-	-	MAEL	ENST00000367870,p.P388S|NM_001286377,p.P388S|uc001gdy.1,p.P419S|NM_001286378,p.P363S|ENST00000367872,p.P419S|uc001gdz.1,p.P388S|NM_032858,p.P419S|uc021peh.1,p.P363S	protein_coding, processed_transcript	uc021peh.1	nonsynonymous SNV	exon13	c.C1087T	p.P363S	IHKFSNCDTSLSPYMSQKDGYKSFS	IHKFSNCDTSLSSYMSQKDGYKSFS	4.0	8.0	unscreened	-	4000_1:166991042-166991042 C>T_IHKFSNCDTSLSSYMSQKDGYKSFS
1:3342789-3342789 G>A	0.0	4000	MELANOMA	-	-	-	1	PRDM16	uc009vlh.3,p.R795Q|ENST00000378391,p.R1095Q|ENST00000441472,p.R1094Q|NM_199454,p.R1095Q|ENST00000442529,p.R1094Q|NM_022114,p.R1095Q|uc001ake.3,p.R1095Q|ENST00000509860,p.R903Q|uc001akf.3,p.R1095Q|ENST00000511072,p.R1096Q|ENST00000378398,p.R1095Q|ENST00000270722,p.R1095Q|ENST00000514189,p.R1095Q|uc001akc.3,p.R1094Q	protein_coding, processed_transcript	uc009vlh.3	nonsynonymous SNV	exon14	c.G2384A	p.R795Q	SEMNQASTRTEKRADMQIVDGSAQC	SEMNQASTRTEKQADMQIVDGSAQC	3.0	7.0	unscreened	-	4000_1:3342789-3342789 G>A_SEMNQASTRTEKQADMQIVDGSAQC
5:163621-163621 G>A	0.0	4000	MELANOMA	-	-	-	-	PLEKHG4B	uc003jak.2,p.G789E|ENST00000283426,p.G789E|NM_052909,p.G789E	retained_intron, protein_coding	uc003jak.2	nonsynonymous SNV	exon11	c.G2366A	p.G789E	PVTQSRSLSSPSGLHPAEEDGRQQV	PVTQSRSLSSPSELHPAEEDGRQQV	2.0	4.0	unscreened	-	4000_5:163621-163621 G>A_PVTQSRSLSSPSELHPAEEDGRQQV
2:141771146-141771146 A>C	0.0	4000	MELANOMA	-	-	-	1	LRP1B	NM_018557,p.Y787D|ENST00000389484,p.Y787D|uc002tvj.1,p.Y787D	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon14	c.T2359G	p.Y787D	RHERPPLFGLQIYDPRKQQGDNMCR	RHERPPLFGLQIDDPRKQQGDNMCR	1.0	3.0	unscreened	-	4000_2:141771146-141771146 A>C_RHERPPLFGLQIDDPRKQQGDNMCR
12:130647803-130647803 T>G	0.0	4000	MELANOMA	-	-	-	-	FZD10	uc001uii.3,p.C106G|NM_007197,p.C106G|ENST00000229030,p.C106G	protein_coding	uc001uii.3	nonsynonymous SNV	exon1	c.T316G	p.C106G	MCTEQVSTPIPACRVMCEQARLKCS	MCTEQVSTPIPAGRVMCEQARLKCS	3.0	8.0	unscreened	-	4000_12:130647803-130647803 T>G_MCTEQVSTPIPAGRVMCEQARLKCS
11:67184954-67184954 G>C	0.0	4000	MELANOMA	-	-	-	-	CARNS1	uc010rpq.1,p.G43A|NM_001166222,p.G27A|ENST00000445895,p.G27A|uc001olc.4,p.G43A|uc010rpr.2,p.G27A|ENST00000531040,p.G27A	retained_intron, protein_coding, processed_transcript	uc010rpr.2	nonsynonymous SNV	exon3	c.G80C	p.G27A	LGSKDLEEEGPWGGGSGLPPTGCFP	LGSKDLEEEGPWAGGSGLPPTGCFP	4.0	3.0	unscreened	-	4000_11:67184954-67184954 G>C_LGSKDLEEEGPWAGGSGLPPTGCFP
10:26462713-26462713 G>A	0.0	4000	MELANOMA	-	-	-	-	MYO3A	uc001isn.2,p.E1174K|ENST00000265944,p.E1174K|NM_017433,p.E1174K	protein_coding, processed_transcript	uc001isn.2	nonsynonymous SNV	exon30	c.G3520A	p.E1174K	SVVKTSTFKPEEETTNAVESNNRVY	SVVKTSTFKPEEKTTNAVESNNRVY	1.0	7.0	unscreened	-	4000_10:26462713-26462713 G>A_SVVKTSTFKPEEKTTNAVESNNRVY
19:9072091-9072091 G>A	0.0	4000	MELANOMA	-	-	-	2	MUC16	ENST00000397910,p.P5119S|NM_024690,p.P5119S|uc002mkp.3,p.P5119S	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C15355T	p.P5119S	TSKDSKDTKEIFPSINTEETNVKAN	TSKDSKDTKEIFSSINTEETNVKAN	3.0	7.0	unscreened	-	4000_19:9072091-9072091 G>A_TSKDSKDTKEIFSSINTEETNVKAN
6:161488276-161488276 C>T	1.0	4000	MELANOMA	-	-	-	-	MAP3K4	uc011ega.2,p.S5F|NM_001291958,p.S5F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ega.2	nonsynonymous SNV	exon4	c.C14T	p.S5F	MYIGSIQKDRTTRSRDG	MYIGFIQKDRTTRSRDG	7.0	4.0	-	-	4000_6:161488276-161488276 C>T_MYIGFIQKDRTTRSRDG
8:62212831-62212831 G>A	0.0	4000	MELANOMA	-	-	-	-	CLVS1	uc003xug.2,p.D149N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xug.2	nonsynonymous SNV	exon2	c.G445A	p.D149N	GRKILLLFAANWDQRTPSQTSFVPS	GRKILLLFAANWNQRTPSQTSFVPS	2.0	3.0	unscreened	-	4000_8:62212831-62212831 G>A_GRKILLLFAANWNQRTPSQTSFVPS
8:62212831-62212831 G>A	0.0	4000	MELANOMA	-	-	-	-	CLVS1	ENST00000325897,p.D149N|NM_173519,p.D149N|ENST00000519846,p.D149N|uc003xuh.3,p.D149N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xuh.3	nonsynonymous SNV	exon2	c.G445A	p.D149N	GRKILLLFAANWDQSRNSFTDILRA	GRKILLLFAANWNQSRNSFTDILRA	2.0	3.0	unscreened	-	4000_8:62212831-62212831 G>A_GRKILLLFAANWNQSRNSFTDILRA
14:70634218-70634218 C>T	0.0	4000	MELANOMA	-	-	-	-	SLC8A3	uc001xlz.3,p.E308K|uc001xlw.3,p.E308K|NM_033262,p.E308K|ENST00000494208,p.E308K|ENST00000528359,p.E308K|ENST00000357887,p.E308K|NM_182932,p.E308K|ENST00000356921,p.E308K|NM_058240,p.E308K|uc001xlx.3,p.E308K|uc001xly.3,p.E308K|ENST00000534137,p.E308K|ENST00000381269,p.E308K|NM_183002,p.E308K	protein_coding, processed_transcript, nonsense_mediated_decay	uc001xlz.3	nonsynonymous SNV	exon2	c.G922A	p.E308K	FLDGNLVPLEGKEVDESRREMIRIL	FLDGNLVPLEGKKVDESRREMIRIL	1.0	7.0	unscreened	-	4000_14:70634218-70634218 C>T_FLDGNLVPLEGKKVDESRREMIRIL
10:125539742-125539742 C>G	0.0	4000	MELANOMA	-	-	-	-	CPXM2	uc001lhk.1,p.E307Q|ENST00000241305,p.E307Q|NM_198148,p.E307Q	protein_coding, processed_transcript	uc001lhk.1	nonsynonymous SNV	exon7	c.G919C	p.E307Q	LPDPNNYYHRRNEMTTTDDLDFKHH	LPDPNNYYHRRNQMTTTDDLDFKHH	4.0	5.0	unscreened	-	4000_10:125539742-125539742 C>G_LPDPNNYYHRRNQMTTTDDLDFKHH
5:41176817-41176817 C>T	0.0	4000	MELANOMA	-	-	-	-	C6	NM_000065,p.D310N|ENST00000263413,p.D310N|ENST00000337836,p.D310N|uc003jmk.3,p.D310N|NM_001115131,p.D310N|uc003jml.2,p.D310N	retained_intron, protein_coding, processed_transcript	uc003jml.2	nonsynonymous SNV	exon8	c.G928A	p.D310N	AFKQAIQASHKKDSSFIRIHKVMKV	AFKQAIQASHKKNSSFIRIHKVMKV	2.0	7.0	unscreened	-	4000_5:41176817-41176817 C>T_AFKQAIQASHKKNSSFIRIHKVMKV
5:167674413-167674413 C>A	0.0	4000	MELANOMA	-	-	-	-	TENM2	ENST00000520394,p.H1918N|ENST00000403607,p.H1981N|ENST00000545108,p.H2156N|NM_001122679,p.H2148N|ENST00000518659,p.H2157N|uc003lzr.5,p.H1918N|uc003lzt.4,p.H1521N|uc010jje.3,p.H1412N|ENST00000519204,p.H2036N|uc010jjd.3,p.H2148N	retained_intron, protein_coding, processed_transcript	uc010jje.3	nonsynonymous SNV	exon16	c.C4234A	p.H1412N	TAVMTLSKHFDTHGRIKEVQYEMFR	TAVMTLSKHFDTNGRIKEVQYEMFR	1.0	3.0	unscreened	-	4000_5:167674413-167674413 C>A_TAVMTLSKHFDTNGRIKEVQYEMFR
6:76022490-76022490 C>T	0.0	4000	MELANOMA	-	-	-	-	FILIP1	ENST00000393004,p.E1020K|uc010kbe.3,p.E1023K|NM_015687,p.E1020K|uc003pia.3,p.E1020K|NM_001300866,p.E1020K|uc003pib.1,p.E772K|ENST00000237172,p.E1020K|uc003phy.1,p.E1020K|ENST00000370020,p.E921K|NM_001289987,p.E1023K|uc003phz.3,p.E921K	protein_coding, processed_transcript	uc010kbe.3	nonsynonymous SNV	exon6	c.G3067A	p.E1023K	QIMTVSTSAAPAEIAVSPESQEMPM	QIMTVSTSAAPAKIAVSPESQEMPM	4.0	6.0	unscreened	-	4000_6:76022490-76022490 C>T_QIMTVSTSAAPAKIAVSPESQEMPM
11:64825352-64825352 G>A	0.0	4000	MELANOMA	-	-	-	-	NAALADL1	ENST00000355721,p.P159S	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000355721	nonsynonymous SNV	exon3	c.C475T	p.P159S	VQPYAAYAPSGTPQAVNAAKHGVAG	VQPYAAYAPSGTSQAVNAAKHGVAG	5.0	4.0	unscreened	-	4000_11:64825352-64825352 G>A_VQPYAAYAPSGTSQAVNAAKHGVAG
12:85445976-85445976 G>A	0.0	4000	MELANOMA	-	-	-	-	LRRIQ1	uc001tac.3,p.D234N|uc021rbo.1,p.D112N|ENST00000393217,p.D234N|NM_001079910,p.D234N	retained_intron, protein_coding, nonsense_mediated_decay	uc021rbo.1	nonsynonymous SNV	exon3	c.G334A	p.D112N	ENIQKQEQDKMNDELYKEEKIWKEK	ENIQKQEQDKMNNELYKEEKIWKEK	3.0	3.0	unscreened	-	4000_12:85445976-85445976 G>A_ENIQKQEQDKMNNELYKEEKIWKEK
8:110394735-110394735 G>A	0.0	4000	MELANOMA	-	-	-	-	PKHD1L1	uc003yne.3,p.G118R|NM_177531,p.G118R|ENST00000378402,p.G118R	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon4	c.G352A	p.G118R	PEDSYTVRVSVDGVPVTENNTCKGH	PEDSYTVRVSVDRVPVTENNTCKGH	4.0	3.0	unscreened	-	4000_8:110394735-110394735 G>A_PEDSYTVRVSVDRVPVTENNTCKGH
17:53798369-53798369 C>T	0.0	4000	MELANOMA	-	-	-	-	TMEM100	NM_001099640,p.M21I|uc002iuj.4,p.M21I|uc021uai.1,p.M21I|ENST00000424486,p.M21I|NM_018286,p.M21I|ENST00000575734,p.M21I|ENST00000571679,p.M21I|uc002iuk.4,p.M21I	retained_intron, protein_coding, processed_transcript	uc021uai.1	nonsynonymous SNV	exon1	c.G63A	p.M21I	ILGAPKAHMAATMEKSPKSEVVITT	ILGAPKAHMAATIEKSPKSEVVITT	3.0	7.0	unscreened	-	4000_17:53798369-53798369 C>T_ILGAPKAHMAATIEKSPKSEVVITT
22:25334157-25334157 C>T	0.0	4000	MELANOMA	-	-	-	-	TMEM211	NM_001001663,p.R29K|uc003abk.1,p.R29K|ENST00000407886,p.R29K|ENST00000382744,p.R29K|ENST00000423535,p.R100K	protein_coding	uc003abk.1	nonsynonymous SNV	exon2	c.G86A	p.R29K	LSWAVAPKGLCPRRSSVPMPGVQAV	LSWAVAPKGLCPKRSSVPMPGVQAV	1.0	8.0	unscreened	-	4000_22:25334157-25334157 C>T_LSWAVAPKGLCPKRSSVPMPGVQAV
17:10351350-10351350 C>T	0.0	4000	MELANOMA	-	-	ID=COSM1709835;OCCURENCE=1(skin)	-	MYH4	NM_017533,p.D1584N|ENST00000255381,p.D1584N|uc002gmn.3,p.D1584N	protein_coding	uc002gmn.3	nonsynonymous SNV	exon34	c.G4750A	p.D1584N	VKSEIDRKIAEKDEELDQLKRNHLR	VKSEIDRKIAEKNEELDQLKRNHLR	1.0	7.0	unscreened	-	4000_17:10351350-10351350 C>T_VKSEIDRKIAEKNEELDQLKRNHLR
5:161569295-161569295 G>A	0.0	4000	MELANOMA	-	-	-	-	GABRG2	ENST00000414552,p.D339N|NM_198903,p.D339N|NM_198904,p.D299N|uc010jjc.3,p.D339N|ENST00000361925,p.D299N|ENST00000356592,p.D299N|uc003lyy.4,p.D299N|ENST00000522053,p.D204N|NM_000816,p.D299N|ENST00000393933,p.D204N|uc011dej.2,p.D204N|uc003lyz.4,p.D299N	protein_coding, nonsense_mediated_decay	uc011dej.2	nonsynonymous SNV	exon8	c.G610A	p.D204N	VVLSWVSFWINKDAVPARTSLGITT	VVLSWVSFWINKNAVPARTSLGITT	1.0	6.0	unscreened	-	4000_5:161569295-161569295 G>A_VVLSWVSFWINKNAVPARTSLGITT
4:40356328-40356328 C>T	0.0	4000	MELANOMA	-	-	-	-	CHRNA9	uc003gva.2,p.P411S|NM_017581,p.P411S|ENST00000310169,p.P411S	protein_coding, processed_transcript	uc003gva.2	nonsynonymous SNV	exon5	c.C1231T	p.P411S	RLKNDLGCQGKNPQEAESYCAQYKV	RLKNDLGCQGKNSQEAESYCAQYKV	1.0	5.0	unscreened	-	4000_4:40356328-40356328 C>T_RLKNDLGCQGKNSQEAESYCAQYKV
3:96706485-96706485 G>A	0.0	4000	MELANOMA	-	-	-	-	EPHA6	uc003drp.1,p.M254I|NM_001278301,p.M254I|NM_001080448,p.M254I|ENST00000389672,p.M254I|ENST00000470610,p.M254I|ENST00000542517,p.M160I|uc031sar.1,p.M254I|uc010how.1,p.M254I	protein_coding, nonsense_mediated_decay	uc031sar.1	nonsynonymous SNV	exon3	c.G762A	p.M254I	IDTIAADESFTQMDLGDRILKLNTE	IDTIAADESFTQIDLGDRILKLNTE	1.0	6.0	unscreened	-	4000_3:96706485-96706485 G>A_IDTIAADESFTQIDLGDRILKLNTE
2:162661012-162661012 C>T	0.0	4000	MELANOMA	-	-	-	-	SLC4A10	NM_022058,p.H62Y|uc002ubx.4,p.H62Y|ENST00000272716,p.H62Y|NM_001178016,p.H73Y|ENST00000535165,p.H62Y|uc010fpa.1,p.H74Y|NM_001178015,p.H62Y|ENST00000421911,p.H62Y|ENST00000446997,p.H62Y|ENST00000446228,p.H62Y|ENST00000415876,p.H62Y|uc002uby.4,p.H62Y|ENST00000375514,p.H73Y|uc010zcs.2,p.H73Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zcs.2	nonsynonymous SNV	exon4	c.C217T	p.H73Y	IGVHVPLGGRKSHRRHRHRGHKHRK	IGVHVPLGGRKSYRRHRHRGHKHRK	3.0	3.0	unscreened	-	4000_2:162661012-162661012 C>T_IGVHVPLGGRKSYRRHRHRGHKHRK
16:20497945-20497945 G>A	0.0	4000	MELANOMA	-	-	ID=COSM231699;OCCURENCE=2(skin)	-	ACSM2A	uc010vay.2,p.R481Q|uc002dhh.4,p.R190Q|uc002dhg.4,p.R560Q|ENST00000536134,p.R332Q|uc010bwe.3,p.R560Q|ENST00000575690,p.R560Q|ENST00000573854,p.R560Q|ENST00000396104,p.R560Q|ENST00000219054,p.R560Q|NM_001010845,p.R560Q|uc002dhf.4,p.R560Q|ENST00000417235,p.R481Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vay.2	nonsynonymous SNV	exon13	c.G1442A	p.R481Q	LNLPKTVTGKIQRAKLRDKEWKMSG	LNLPKTVTGKIQQAKLRDKEWKMSG	1.0	6.0	unscreened	-	4000_16:20497945-20497945 G>A_LNLPKTVTGKIQQAKLRDKEWKMSG
19:51021538-51021538 C>T	0.0	4000	MELANOMA	-	-	-	-	LRRC4B	ENST00000389201,p.G478R|ENST00000599957,p.G478R|NM_001080457,p.G478R|uc002pss.3,p.G478R	protein_coding	uc002pss.3	nonsynonymous SNV	exon3	c.G1432A	p.G478R	SGGGGPGGSGGVGGGSGGYTYFTTV	SGGGGPGGSGGVRGGSGGYTYFTTV	1.0	4.0	unscreened	-	4000_19:51021538-51021538 C>T_SGGGGPGGSGGVRGGSGGYTYFTTV
12:130647803-130647803 T>G	0.0	4000	MELANOMA	-	-	-	-	FZD10	ENST00000539839,p.L73R	protein_coding	ENST00000539839	nonsynonymous SNV	exon1	c.T218G	p.L73R	DVHRAGLYPHPRLPGHVRAGPAQVL	DVHRAGLYPHPRRPGHVRAGPAQVL	3.0	8.0	unscreened	-	4000_12:130647803-130647803 T>G_DVHRAGLYPHPRRPGHVRAGPAQVL
2:226273604-226273604 C>T	0.0	4000	MELANOMA	-	-	ID=COSM1719289;OCCURENCE=2(NS)	-	NYAP2	uc002voe.2,p.S3F|ENST00000272907,p.S3F|NM_020864,p.S3F|ENST00000409269,p.S3F	protein_coding	uc002voe.2	nonsynonymous SNV	exon2	c.C8T	p.S3F	MISSKMMSSNPEEDP	MIFSKMMSSNPEEDP	2.0	9.0	unscreened	-	4000_2:226273604-226273604 C>T_MIFSKMMSSNPEEDP
15:72699034-72699034 T>A	0.0	4000	MELANOMA	-	-	-	-	TMEM202	ENST00000568167,p.I58N|ENST00000567679,p.I58N	protein_coding, nonsense_mediated_decay	ENST00000568167	nonsynonymous SNV	exon2	c.T173A	p.I58N	LALAGSSALGSLIEEA	LALAGSSALGSLNEEA	1.0	5.0	unscreened	-	4000_15:72699034-72699034 T>A_LALAGSSALGSLNEEA
16:2905578-2905578 C>T	0.0	4000	MELANOMA	-	-	-	-	PRSS22	NM_022119,p.G186R|uc002cry.1,p.G186R|ENST00000161006,p.G186R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002cry.1	nonsynonymous SNV	exon4	c.G556A	p.G186R	HCWISGWGSIQDGVPLPHPQTLQKL	HCWISGWGSIQDRVPLPHPQTLQKL	1.0	4.0	unscreened	-	4000_16:2905578-2905578 C>T_HCWISGWGSIQDRVPLPHPQTLQKL
6:56006635-56006635 C>T	0.0	4000	MELANOMA	-	-	-	-	COL21A1	uc003pcs.3,p.G497E|NM_030820,p.G497E|ENST00000370819,p.G494E|ENST00000535941,p.G497E|uc011dxi.1,p.G497E|uc003pcu.1,p.G494E|ENST00000244728,p.G497E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxi.1	nonsynonymous SNV	exon13	c.G1490A	p.G497E	GTPGVPGSPGIQGARGLPGYKGEPG	GTPGVPGSPGIQEARGLPGYKGEPG	4.0	4.0	unscreened	-	4000_6:56006635-56006635 C>T_GTPGVPGSPGIQEARGLPGYKGEPG
4:72316988-72316988 G>A	0.0	4000	MELANOMA	-	-	-	-	SLC4A4	uc003hgc.4,p.G387E|ENST00000351898,p.G431E|uc010iic.3,p.G431E|ENST00000264485,p.G431E|uc010iib.3,p.G431E|NM_001098484,p.G431E|NM_003759,p.G387E|ENST00000512686,p.G387E|uc003hgb.3,p.G387E|uc003hga.2,p.G309E|ENST00000425175,p.G431E|uc003hfy.3,p.G431E|NM_001134742,p.G431E|ENST00000340595,p.G387E|uc003hfz.3,p.G431E	protein_coding, processed_transcript	uc010iic.3	nonsynonymous SNV	exon11	c.G1292A	p.G431E	TPHDGGHGGGGHGDCEELQRTGRFC	TPHDGGHGGGGHEDCEELQRTGRFC	5.0	4.0	unscreened	-	4000_4:72316988-72316988 G>A_TPHDGGHGGGGHEDCEELQRTGRFC
19:42563605-42563605 C>T	0.0	4000	MELANOMA	-	-	-	-	GRIK5	ENST00000593562,p.D195N|NM_002088,p.D195N|uc002osj.2,p.D195N|uc010eib.2,p.D127N|ENST00000301218,p.D195N|ENST00000262895,p.D195N|NM_001301030,p.D195N	retained_intron, protein_coding, nonsense_mediated_decay	uc010eib.2	nonsynonymous SNV	exon6	c.G379A	p.D127N	ISKETLSVRMLDDSRDPTPLLKEIR	ISKETLSVRMLDNSRDPTPLLKEIR	2.0	6.0	unscreened	-	4000_19:42563605-42563605 C>T_ISKETLSVRMLDNSRDPTPLLKEIR
2:113765409-113765409 G>A	0.0	4000	MELANOMA	-	-	-	-	IL36A	NM_014440,p.E89K|uc010yxr.2,p.E89K|ENST00000259211,p.E89K	protein_coding	uc010yxr.2	nonsynonymous SNV	exon4	c.G265A	p.E89K	AKVGDQPTLQLKEKDIMDLYNQPEP	AKVGDQPTLQLKKKDIMDLYNQPEP	1.0	3.0	unscreened	-	4000_2:113765409-113765409 G>A_AKVGDQPTLQLKKKDIMDLYNQPEP
4:141334175-141334175 C>T	0.0	4000	MELANOMA	-	-	-	-	CLGN	NM_001130675,p.E20K|ENST00000509477,p.E20K|ENST00000414773,p.E20K|uc003iii.3,p.E20K|NM_004362,p.E20K|ENST00000325617,p.E20K|ENST00000537281,p.E20K|uc011chi.2,p.E20K	protein_coding	uc011chi.2	nonsynonymous SNV	exon3	c.G58A	p.E20K	LCLGLLFISINAEFMDDDVETEDFE	LCLGLLFISINAKFMDDDVETEDFE	2.0	5.0	unscreened	-	4000_4:141334175-141334175 C>T_LCLGLLFISINAKFMDDDVETEDFE
8:139890019-139890019 C>T	0.0	4000	MELANOMA	-	-	-	-	COL22A1	uc003yvd.3,p.G211D|NM_152888,p.G211D|ENST00000435777,p.G211D|ENST00000303045,p.G211D	protein_coding, processed_transcript	uc003yvd.3	nonsynonymous SNV	exon3	c.G632A	p.G211D	HVSDFNAIDKIRGKLRRRLCENVLC	HVSDFNAIDKIRDKLRRRLCENVLC	4.0	5.0	unscreened	-	4000_8:139890019-139890019 C>T_HVSDFNAIDKIRDKLRRRLCENVLC
8:79514030-79514030 G>A	0.0	4000	MELANOMA	-	-	ID=COSM40474;OCCURENCE=2(large_intestine),1(skin),1(central_nervous_system)	-	PKIA	uc010lzo.3,p.G69R|NM_181839,p.G69R|uc003ybb.3,p.G69R|NM_006823,p.G69R|ENST00000396418,p.G69R|uc003yba.3,p.G69R|ENST00000352966,p.G69R|ENST00000518467,p.G69R	protein_coding	uc010lzo.3	nonsynonymous SNV	exon3	c.G205A	p.G69R	QRSSTEQSGEAQGEAAKSES	QRSSTEQSGEAQREAAKSES	5.0	5.0	unscreened	-	4000_8:79514030-79514030 G>A_QRSSTEQSGEAQREAAKSES
4:164394598-164394598 C>T	0.0	4000	MELANOMA	-	-	-	-	TKTL2	ENST00000280605,p.D97N|uc003iqp.4,p.D97N|NM_032136,p.D97N	protein_coding	uc003iqp.4	nonsynonymous SNV	exon1	c.G289A	p.D97N	AAWVEVGDISESDLLNLRKLHSDLE	AAWVEVGDISESNLLNLRKLHSDLE	1.0	6.0	unscreened	-	4000_4:164394598-164394598 C>T_AAWVEVGDISESNLLNLRKLHSDLE
17:38854883-38854883 A>T	0.0	4000	MELANOMA	-	-	-	-	KRT24	NM_019016,p.F461I|ENST00000264651,p.F461I|uc002hvd.3,p.F461I	protein_coding	uc002hvd.3	nonsynonymous SNV	exon7	c.T1381A	p.F461I	LDGEGGGSSFAEFGGRNSGSVNMGS	LDGEGGGSSFAEIGGRNSGSVNMGS	1.0	4.0	unscreened	-	4000_17:38854883-38854883 A>T_LDGEGGGSSFAEIGGRNSGSVNMGS
2:168107030-168107030 G>A	0.0	4000	MELANOMA	-	-	-	-	XIRP2	uc002udy.3,p.G2868E|ENST00000295237,p.G3043E|NM_001199144,p.G2821E|ENST00000409195,p.G3043E|uc002udx.3,p.G3043E|NM_152381,p.G3043E|ENST00000409273,p.G2821E|uc010fpq.3,p.G2821E	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.G8462A	p.G2821E	QTAMMSSKTGKPGNKPTSLDETSSK	QTAMMSSKTGKPENKPTSLDETSSK	1.0	6.0	unscreened	-	4000_2:168107030-168107030 G>A_QTAMMSSKTGKPENKPTSLDETSSK
17:39023066-39023066 C>T	0.0	4000	MELANOMA	-	-	-	-	KRT12	NM_000223,p.E125K|ENST00000251643,p.E125K|uc002hvk.2,p.E125K	protein_coding	uc002hvk.2	nonsynonymous SNV	exon1	c.G373A	p.E125K	LSGNDGGLLSGSEKETMQNLNDRLA	LSGNDGGLLSGSKKETMQNLNDRLA	1.0	6.0	unscreened	-	4000_17:39023066-39023066 C>T_LSGNDGGLLSGSKKETMQNLNDRLA
20:57042215-57042215 C>T	0.0	4000	MELANOMA	-	-	ID=COSM724049;OCCURENCE=1(lung)	-	APCDD1L	ENST00000439429,p.E241K|NM_153360,p.E230K|ENST00000371149,p.E230K|uc010zzp.1,p.E241K|uc002xze.1,p.E230K	protein_coding, processed_transcript	uc010zzp.1	nonsynonymous SNV	exon4	c.G721A	p.E241K	ELYLGDIHTDPAERRHYRPTGYQRP	ELYLGDIHTDPAKRRHYRPTGYQRP	3.0	7.0	unscreened	-	4000_20:57042215-57042215 C>T_ELYLGDIHTDPAKRRHYRPTGYQRP
10:61830198-61830198 G>A	0.0	4000	MELANOMA	-	-	-	-	ANK3	ENST00000280772,p.P3481S|NM_020987,p.P3481S|uc001jky.3,p.P3481S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jky.3	nonsynonymous SNV	exon37	c.C10441T	p.P3481S	EEGKVGPDEDKPPSKSSSSEKTPDK	EEGKVGPDEDKPSSKSSSSEKTPDK	6.0	8.0	unscreened	-	4000_10:61830198-61830198 G>A_EEGKVGPDEDKPSSKSSSSEKTPDK
11:72946180-72946180 C>T	0.0	4000	MELANOMA	-	-	-	-	P2RY2	NM_176072,p.P326S|NM_176071,p.P326S|ENST00000393597,p.P326S|uc001otl.4,p.P326S|uc001otk.4,p.P326S|uc001otj.4,p.P326S|ENST00000393596,p.P326S|uc021qna.1,p.P326S|ENST00000311131,p.P326S|NM_002564,p.P326S	protein_coding	uc021qna.1	nonsynonymous SNV	exon1	c.C976T	p.P326S	VRFARDAKPPTGPSPATPARRRLGL	VRFARDAKPPTGSSPATPARRRLGL	3.0	7.0	unscreened	-	4000_11:72946180-72946180 C>T_VRFARDAKPPTGSSPATPARRRLGL
3:155198804-155198804 G>A	0.0	4000	MELANOMA	-	-	-	-	PLCH1	ENST00000340059,p.P1679S|ENST00000460012,p.P1641S|ENST00000334686,p.P1641S|NM_001130960,p.P1679S|ENST00000414191,p.P1641S|uc021xge.1,p.P1679S|NM_014996,p.P1641S|uc021xgf.1,p.P1641S	retained_intron, protein_coding	uc021xgf.1	nonsynonymous SNV	exon22	c.C4921T	p.P1641S	QFCSDNSVLQTEPSSDDKPEIYFLL	QFCSDNSVLQTESSSDDKPEIYFLL	4.0	3.0	unscreened	-	4000_3:155198804-155198804 G>A_QFCSDNSVLQTESSSDDKPEIYFLL
2:137814431-137814431 G>A	0.0	4000	MELANOMA	-	-	-	-	THSD7B	uc002tva.1,p.G163E|ENST00000272643,p.G194E|ENST00000409968,p.G194E|uc002tvb.3,p.G53E|ENST00000413152,p.G163E|ENST00000543459,p.G53E	retained_intron, protein_coding, processed_transcript	uc002tvb.3	nonsynonymous SNV	exon1	c.G158A	p.G53E	VSEFLPWSNCSKGCGKKLQHRTRAV	VSEFLPWSNCSKECGKKLQHRTRAV	1.0	3.0	unscreened	-	4000_2:137814431-137814431 G>A_VSEFLPWSNCSKECGKKLQHRTRAV
7:43484632-43484632 G>A	0.0	4000	MELANOMA	0.0005	-	-	-	HECW1	NM_015052,p.E621K|ENST00000395891,p.E621K|NM_001287059,p.E621K|uc011kbi.1,p.E621K|ENST00000453890,p.E621K|uc003tid.1,p.E621K	protein_coding, processed_transcript	uc011kbi.1	nonsynonymous SNV	exon10	c.G1861A	p.E621K	DPSALEEDREEPEGATPGTAHPGHS	DPSALEEDREEPKGATPGTAHPGHS	1.0	7.0	unscreened	-	4000_7:43484632-43484632 G>A_DPSALEEDREEPKGATPGTAHPGHS
17:26874328-26874328 C>T	1.0	4000	MELANOMA	-	-	-	-	UNC119	NM_005148,p.S237N|uc002hbk.2,p.S237N|ENST00000484980,p.S142N|ENST00000335765,p.S237N	retained_intron, protein_coding	uc002hbk.2	nonsynonymous SNV	exon5	c.G710A	p.S237N	RLVMHNKADYSYSGTP	RLVMHNKADYSYNGTP	8.0	6.0	-	-	4000_17:26874328-26874328 C>T_RLVMHNKADYSYNGTP
9:33935732-33935732 G>A	1.0	4000	MELANOMA	-	-	-	-	UBAP2	ENST00000379225,p.R325C|uc003zts.3,p.R325C	protein_coding, processed_transcript, nonsense_mediated_decay	uc003zts.3	nonsynonymous SNV	exon5	c.C973T	p.R325C	VMWKTPVGQWLIR	VMWKTPVGQWLIC	8.0	8.0	-	-	4000_9:33935732-33935732 G>A_VMWKTPVGQWLIC
1:47581254-47581254 G>A	0.0	4000	MELANOMA	-	-	-	-	CYP4Z1	uc001cqu.1,p.E419K|ENST00000334194,p.E419K|NM_178134,p.E419K	protein_coding, processed_transcript	uc001cqu.1	nonsynonymous SNV	exon10	c.G1255A	p.E419K	NIWALHHNPYFWEDPQVFNPLRFSR	NIWALHHNPYFWKDPQVFNPLRFSR	1.0	5.0	unscreened	-	4000_1:47581254-47581254 G>A_NIWALHHNPYFWKDPQVFNPLRFSR
1:118629586-118629586 G>A	0.0	4000	MELANOMA	-	-	-	-	SPAG17	ENST00000336338,p.P469S|uc001ehk.2,p.P469S|NM_206996,p.P469S	protein_coding, processed_transcript	uc001ehk.2	nonsynonymous SNV	exon11	c.C1405T	p.P469S	TEEDLVPPSLREPSPRADGLDHRIA	TEEDLVPPSLRESSPRADGLDHRIA	2.0	6.0	unscreened	-	4000_1:118629586-118629586 G>A_TEEDLVPPSLRESSPRADGLDHRIA
2:166183374-166183374 G>A	0.0	4000	MELANOMA	-	-	-	-	SCN2A	NM_021007,p.E677K|NM_001040143,p.E677K|NM_001040142,p.E677K|ENST00000357398,p.E677K|ENST00000375437,p.E677K|uc002udc.3,p.E677K|ENST00000375427,p.E677K|ENST00000283256,p.E677K|uc002ude.3,p.E677K|uc002udd.3,p.E677K	retained_intron, protein_coding	uc002ude.3	nonsynonymous SNV	exon12	c.G2029A	p.E677K	SAGQLLPEGTTTETEIRKRRSSSYH	SAGQLLPEGTTTKTEIRKRRSSSYH	2.0	6.0	unscreened	-	4000_2:166183374-166183374 G>A_SAGQLLPEGTTTKTEIRKRRSSSYH
16:4254615-4254615 C>T	0.0	4000	MELANOMA	-	-	-	-	SRL	NM_001098814,p.E28K|uc002cvz.4,p.E28K|ENST00000399609,p.E28K	protein_coding, nonsense_mediated_decay	uc002cvz.4	nonsynonymous SNV	exon2	c.G82A	p.E28K	FSGQAEETEDANEEAPLRDRSHIEK	FSGQAEETEDANKEAPLRDRSHIEK	1.0	7.0	unscreened	-	4000_16:4254615-4254615 C>T_FSGQAEETEDANKEAPLRDRSHIEK
2:116066822-116066822 G>A	0.0	4000	MELANOMA	-	-	-	-	DPP10	NM_001178037,p.G19E|ENST00000393146,p.G19E|uc002tlc.2,p.G19E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tlc.2	nonsynonymous SNV	exon2	c.G56A	p.G19E	AEGPVDGSEKELGSNSPPQRNWKGI	AEGPVDGSEKELESNSPPQRNWKGI	1.0	5.0	unscreened	-	4000_2:116066822-116066822 G>A_AEGPVDGSEKELESNSPPQRNWKGI
2:186659956-186659956 G>A	0.0	4000	MELANOMA	-	-	-	-	FSIP2	uc002upl.3,p.G2787E|ENST00000424728,p.G2698E|ENST00000343098,p.G2787E|NM_173651,p.G2787E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon16	c.G8360A	p.G2787E	AAKAKSKTKLGPGEKTLKDSRSKTA	AAKAKSKTKLGPEEKTLKDSRSKTA	2.0	7.0	unscreened	-	4000_2:186659956-186659956 G>A_AAKAKSKTKLGPEEKTLKDSRSKTA
5:121786832-121786832 C>T	0.0	4000	MELANOMA	-	-	-	-	SNCAIP	uc003kta.1,p.P396S|uc003ksx.1,p.P811S|uc003ksz.1,p.P398S|uc010jcw.1,p.P458S|uc003ksy.1,p.P398S|NM_005460,p.P764S|uc011cwm.1,p.P398S|ENST00000261367,p.P811S|ENST00000379538,p.P398S|ENST00000261368,p.P764S|uc011cwl.1,p.P322S|uc010jcu.2,p.P360S|uc003ktc.1,p.P280S|ENST00000379536,p.P704S|uc003ksw.1,p.P764S|ENST00000414317,p.P366S|NM_001242935,p.P398S|uc010jcx.1,p.P704S|ENST00000509154,p.P704S|ENST00000542191,p.P322S|ENST00000379533,p.P811S	retained_intron, protein_coding, nonsense_mediated_decay	uc011cwm.1	nonsynonymous SNV	exon8	c.C1192T	p.P398S	SESSEPDLESQYPGSGSIPPNQPSG	SESSEPDLESQYSGSGSIPPNQPSG	4.0	7.0	unscreened	-	4000_5:121786832-121786832 C>T_SESSEPDLESQYSGSGSIPPNQPSG
4:37440554-37440554 G>A	0.0	4000	MELANOMA	-	-	-	-	NWD2	NM_001144990,p.D280N|uc011bxz.2,p.D280N|ENST00000309447,p.D280N	protein_coding	uc011bxz.2	nonsynonymous SNV	exon6	c.G838A	p.D280N	RFVKIPEMGKYMDITGTEPRIIRDP	RFVKIPEMGKYMNITGTEPRIIRDP	1.0	5.0	unscreened	-	4000_4:37440554-37440554 G>A_RFVKIPEMGKYMNITGTEPRIIRDP
2:186678578-186678578 T>A	0.0	4000	MELANOMA	-	-	-	-	FSIP2	ENST00000343098,p.F6801I|NM_173651,p.F6801I|ENST00000424728,p.F6712I|uc002upl.3,p.F6801I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon18	c.T20401A	p.F6801I	PKSTLSTSSLKKFLSLSKCCQTTAS	PKSTLSTSSLKKILSLSKCCQTTAS	2.0	5.0	unscreened	-	4000_2:186678578-186678578 T>A_PKSTLSTSSLKKILSLSKCCQTTAS
2:116066822-116066822 G>A	0.0	4000	MELANOMA	-	-	-	-	DPP10	uc002tle.3,p.G27E|ENST00000393147,p.G27E|NM_001178034,p.G27E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tle.3	nonsynonymous SNV	exon2	c.G80A	p.G27E	RASQAQPADQELGSNSPPQRNWKGI	RASQAQPADQELESNSPPQRNWKGI	1.0	5.0	unscreened	-	4000_2:116066822-116066822 G>A_RASQAQPADQELESNSPPQRNWKGI
10:28272903-28272903 C>T	0.0	4000	MELANOMA	-	-	-	-	ARMC4	ENST00000239715,p.E87K|NM_018076,p.E230K|ENST00000434029,p.E124K|NM_001290020,p.E230K|ENST00000305242,p.E230K|uc001itz.3,p.E230K|uc009xky.3,p.E230K	protein_coding, processed_transcript	uc009xky.3	nonsynonymous SNV	exon6	c.G688A	p.E230K	TVLESIEYTSDYEFSNGCRAPPWRQ	TVLESIEYTSDYKFSNGCRAPPWRQ	2.0	5.0	unscreened	-	4000_10:28272903-28272903 C>T_TVLESIEYTSDYKFSNGCRAPPWRQ
15:34648071-34648071 T>A	0.0	4000	MELANOMA	-	-	-	1	NUTM1	ENST00000537011,p.V621E|uc010ucc.2,p.V621E|ENST00000438749,p.V611E|ENST00000333756,p.V593E|uc001zif.3,p.V593E|uc010ucd.2,p.V611E|NM_175741,p.V593E|NM_001284293,p.V611E|NM_001284292,p.V621E	protein_coding	uc010ucd.2	nonsynonymous SNV	exon7	c.T1832A	p.V611E	VERRGSGKVINQVSLHQDGHLGGAG	VERRGSGKVINQESLHQDGHLGGAG	1.0	6.0	unscreened	-	4000_15:34648071-34648071 T>A_VERRGSGKVINQESLHQDGHLGGAG
15:72030247-72030247 G>A	0.0	4000	MELANOMA	-	-	-	-	THSD4	ENST00000355327,p.D603N|uc002atb.1,p.D603N|NM_024817,p.D603N|ENST00000261862,p.D603N|NM_001286429,p.D243N|ENST00000357769,p.D243N|uc010ukg.1,p.D243N|uc002ate.2,p.D243N	retained_intron, protein_coding, processed_transcript	uc010ukg.1	nonsynonymous SNV	exon5	c.G727A	p.D243N	VRHPDRFSPHRPDNLVPPAPQPPRR	VRHPDRFSPHRPNNLVPPAPQPPRR	4.0	4.0	unscreened	-	4000_15:72030247-72030247 G>A_VRHPDRFSPHRPNNLVPPAPQPPRR
2:116066822-116066822 G>A	0.0	4000	MELANOMA	-	-	-	-	DPP10	ENST00000310323,p.G16E|uc002tlf.2,p.G16E|NM_001004360,p.G16E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tlf.2	nonsynonymous SNV	exon2	c.G47A	p.G16E	VESRGEGGREELGSNSPPQRNWKGI	VESRGEGGREELESNSPPQRNWKGI	1.0	5.0	unscreened	-	4000_2:116066822-116066822 G>A_VESRGEGGREELESNSPPQRNWKGI
17:48917400-48917400 G>A	0.0	4000	MELANOMA	-	-	-	-	WFIKKN2	NM_175575,p.E251K|ENST00000426127,p.E158K|uc002isv.4,p.E251K|ENST00000311378,p.E251K|uc010dbu.3,p.E158K	protein_coding	uc010dbu.3	nonsynonymous SNV	exon2	c.G472A	p.E158K	PEITWEKQLEDRENVVMRPNHVRGN	PEITWEKQLEDRKNVVMRPNHVRGN	1.0	6.0	unscreened	-	4000_17:48917400-48917400 G>A_PEITWEKQLEDRKNVVMRPNHVRGN
19:2834278-2834278 G>A	1.0	4000	MELANOMA	-	-	-	-	ZNF554	uc002lwl.2,p.E298K|NM_001102651,p.E349K|uc002lwm.2,p.E349K|ENST00000317243,p.E349K	retained_intron, protein_coding, nonsense_mediated_decay	uc002lwm.2	nonsynonymous SNV	exon5	c.G1045A	p.E349K	HSLSEHQRIHTGEKPYECQECGRAF	HSLSEHQRIHTGKKPYECQECGRAF	5.0	4.0	-	-	4000_19:2834278-2834278 G>A_HSLSEHQRIHTGKKPYECQECGRAF
16:31143470-31143470 C>T	0.0	4000	MELANOMA	-	-	-	-	PRSS8	NM_002773,p.E298K|uc010vfe.2,p.E244K|ENST00000317508,p.E298K|uc002ebc.4,p.E298K|ENST00000568261,p.E244K	retained_intron, protein_coding	uc010vfe.2	nonsynonymous SNV	exon6	c.G730A	p.E244K	TELQPRVVPQTQESQPDSNLCGSHL	TELQPRVVPQTQKSQPDSNLCGSHL	3.0	5.0	unscreened	-	4000_16:31143470-31143470 C>T_TELQPRVVPQTQKSQPDSNLCGSHL
6:136923030-136923030 G>A	0.0	4000	MELANOMA	-	-	-	-	MAP3K5	NM_005923,p.P923S|ENST00000359015,p.P923S|uc011edj.2,p.P170S|ENST00000355845,p.P170S|uc003qhc.3,p.P923S|uc011edk.1,p.P768S	protein_coding, processed_transcript	uc011edk.1	nonsynonymous SNV	exon20	c.C2302T	p.P768S	AKAFILKCFEPDPDKRACANDLLVD	AKAFILKCFEPDSDKRACANDLLVD	6.0	4.0	unscreened	-	4000_6:136923030-136923030 G>A_AKAFILKCFEPDSDKRACANDLLVD
3:108095396-108095396 G>A	0.0	4000	MELANOMA	-	-	-	-	HHLA2	uc010hpu.3,p.E389K|ENST00000491820,p.E389K|ENST00000467562,p.E342K|uc011bhl.2,p.E342K|NM_001282557,p.E406K|ENST00000489514,p.E406K|uc003dwz.3,p.E406K|ENST00000357759,p.E406K|NM_007072,p.E406K|NM_001282558,p.E389K|NM_001282559,p.E342K|uc003dwy.4,p.E406K|NM_001282556,p.E406K|ENST00000467761,p.E406K	protein_coding	uc011bhl.2	nonsynonymous SNV	exon10	c.G1024A	p.E342K	GERCPSAPDNGEENVPLSGKV	GERCPSAPDNGEKNVPLSGKV	3.0	5.0	unscreened	-	4000_3:108095396-108095396 G>A_GERCPSAPDNGEKNVPLSGKV
3:14799159-14799159 G>A	0.0	4000	MELANOMA	-	-	-	-	C3orf20	ENST00000435614,p.G619D|ENST00000412910,p.G619D|ENST00000253697,p.G741D|uc003bzb.1,p.G242D|NM_001184958,p.G619D|NM_001184957,p.G619D|uc003byz.3,p.G619D|uc011avj.2,p.G68D|NM_032137,p.G741D|uc003bza.3,p.G619D|uc003byy.3,p.G741D	protein_coding, processed_transcript	uc011avj.2	nonsynonymous SNV	exon1	c.G203A	p.G68D	WLLNTLYNHQQRGRGSPCIQCRYDS	WLLNTLYNHQQRDRGSPCIQCRYDS	2.0	6.0	unscreened	-	4000_3:14799159-14799159 G>A_WLLNTLYNHQQRDRGSPCIQCRYDS
10:70644586-70644586 G>A	0.0	4000	MELANOMA	-	-	-	-	STOX1	NM_152709,p.R345Q|ENST00000421961,p.R235Q|NM_001130161,p.R345Q|ENST00000298596,p.R345Q|uc021prw.1,p.R235Q|uc001joq.3,p.R235Q|uc001jos.2,p.R345Q|ENST00000399169,p.R345Q	protein_coding	uc021prw.1	nonsynonymous SNV	exon3	c.G704A	p.R235Q	FSAQFPPEEWPVRDEDDLDNIPRDV	FSAQFPPEEWPVQDEDDLDNIPRDV	3.0	5.0	unscreened	-	4000_10:70644586-70644586 G>A_FSAQFPPEEWPVQDEDDLDNIPRDV
2:137814430-137814430 G>A	0.0	4000	MELANOMA	-	-	-	-	THSD7B	ENST00000543459,p.G53R|ENST00000272643,p.G194R|ENST00000409968,p.G194R|uc002tva.1,p.G163R|ENST00000413152,p.G163R|uc002tvb.3,p.G53R	retained_intron, protein_coding, processed_transcript	uc002tvb.3	nonsynonymous SNV	exon1	c.G157A	p.G53R	VSEFLPWSNCSKGCGKKLQHRTRAV	VSEFLPWSNCSKRCGKKLQHRTRAV	1.0	3.0	unscreened	-	4000_2:137814430-137814430 G>A_VSEFLPWSNCSKRCGKKLQHRTRAV
2:197184506-197184506 C>T	0.0	4000	MELANOMA	-	-	-	-	HECW2	ENST00000409111,p.G14R|ENST00000260983,p.G370R|uc002utm.1,p.G370R|NM_020760,p.G370R|uc002utl.1,p.G14R	retained_intron, protein_coding	uc002utm.1	nonsynonymous SNV	exon9	c.G1108A	p.G370R	PGSHHDSQVCSNGPVSEDSAADGTP	PGSHHDSQVCSNRPVSEDSAADGTP	5.0	4.0	unscreened	-	4000_2:197184506-197184506 C>T_PGSHHDSQVCSNRPVSEDSAADGTP
2:192863875-192863875 C>T	0.0	4000	MELANOMA	-	-	-	-	TMEFF2	uc031rqm.1,p.G199E|ENST00000392314,p.G199E|uc002utc.3,p.G199E|ENST00000272771,p.G199E|NM_016192,p.G199E	protein_coding, processed_transcript	uc031rqm.1	nonsynonymous SNV	exon6	c.G596A	p.G199E	SQTNFNPLCASDGKSYDNACQIKEA	SQTNFNPLCASDEKSYDNACQIKEA	1.0	6.0	unscreened	-	4000_2:192863875-192863875 C>T_SQTNFNPLCASDEKSYDNACQIKEA
7:116955301-116955301 C>T	0.0	4000	MELANOMA	-	-	-	-	WNT2	uc003viz.3,p.D138N|uc003vja.3,p.D42N|ENST00000265441,p.D138N|NM_003391,p.D138N	retained_intron, protein_coding, nonsense_mediated_decay	uc003vja.3	nonsynonymous SNV	exon3	c.G124A	p.D42N	ACSQGEVKSCSCDPKKMGSAKDSKG	ACSQGEVKSCSCNPKKMGSAKDSKG	4.0	6.0	unscreened	-	4000_7:116955301-116955301 C>T_ACSQGEVKSCSCNPKKMGSAKDSKG
2:141707966-141707966 C>T	0.0	4000	MELANOMA	-	-	-	1	LRP1B	uc010fnl.1,p.D174N|uc002tvj.1,p.D992N|ENST00000434794,p.D137N|NM_018557,p.D992N|ENST00000389484,p.D992N	protein_coding, processed_transcript	uc010fnl.1	nonsynonymous SNV	exon5	c.G520A	p.D174N	CISSKWHCDSDDDCGDGSDEVGCVH	CISSKWHCDSDDNCGDGSDEVGCVH	1.0	4.0	unscreened	-	4000_2:141707966-141707966 C>T_CISSKWHCDSDDNCGDGSDEVGCVH
2:116066822-116066822 G>A	0.0	4000	MELANOMA	-	-	-	-	DPP10	ENST00000410059,p.G23E|NM_020868,p.G23E|uc002tla.2,p.G23E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tla.2	nonsynonymous SNV	exon2	c.G68A	p.G23E	IKCQPSKTIKELGSNSPPQRNWKGI	IKCQPSKTIKELESNSPPQRNWKGI	1.0	5.0	unscreened	-	4000_2:116066822-116066822 G>A_IKCQPSKTIKELESNSPPQRNWKGI
1:220863818-220863818 G>A	0.0	4000	MELANOMA	-	-	-	-	C1orf115	uc001hmp.1,p.R25Q|NM_024709,p.R25Q|ENST00000294889,p.R25Q	protein_coding	uc001hmp.1	nonsynonymous SNV	exon1	c.G74A	p.R25Q	SSLLRRGPRGRGRTEGDEEAAAILE	SSLLRRGPRGRGQTEGDEEAAAILE	3.0	5.0	unscreened	-	4000_1:220863818-220863818 G>A_SSLLRRGPRGRGQTEGDEEAAAILE
2:207173564-207173564 G>A	0.0	4000	MELANOMA	-	-	-	-	ZDBF2	ENST00000374423,p.D1438N|uc002vbp.2,p.D1438N|uc031rqy.1,p.D1436N|NM_020923,p.D1438N|NM_001285549,p.D1436N	protein_coding	uc031rqy.1	nonsynonymous SNV	exon7	c.G4306A	p.D1436N	SVPVKEINLQKKDHNDLENKNCEVC	SVPVKEINLQKKNHNDLENKNCEVC	5.0	4.0	unscreened	-	4000_2:207173564-207173564 G>A_SVPVKEINLQKKNHNDLENKNCEVC
15:33962640-33962640 G>A	0.0	4000	MELANOMA	-	-	-	-	RYR3	uc001zhi.3,p.E1915K|NM_001243996,p.E1915K|uc010bar.3,p.E1915K|ENST00000389232,p.E1915K|ENST00000415757,p.E1915K|NM_001036,p.E1915K	retained_intron, protein_coding, processed_transcript	uc010bar.3	nonsynonymous SNV	exon38	c.G5743A	p.E1915K	LLLHCGVPLEEEEEEEEDTSWTGKL	LLLHCGVPLEEEKEEEEDTSWTGKL	2.0	4.0	unscreened	-	4000_15:33962640-33962640 G>A_LLLHCGVPLEEEKEEEEDTSWTGKL
3:120998780-120998780 G>A	0.0	4000	MELANOMA	-	-	-	-	STXBP5L	ENST00000471454,p.R696Q|uc011bji.2,p.R696Q|ENST00000472879,p.R696Q	protein_coding, nonsense_mediated_decay	uc011bji.2	nonsynonymous SNV	exon19	c.G2087A	p.R696Q	SSDLYQRQPRSPRKNKQFIAGLTEL	SSDLYQRQPRSPQKNKQFIAGLTEL	1.0	5.0	unscreened	-	4000_3:120998780-120998780 G>A_SSDLYQRQPRSPQKNKQFIAGLTEL
2:186659955-186659955 G>A	0.0	4000	MELANOMA	-	-	-	-	FSIP2	ENST00000424728,p.G2698R|uc002upl.3,p.G2787R|NM_173651,p.G2787R|ENST00000343098,p.G2787R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon16	c.G8359A	p.G2787R	AAKAKSKTKLGPGEKTLKDSRSKTA	AAKAKSKTKLGPREKTLKDSRSKTA	2.0	6.0	unscreened	-	4000_2:186659955-186659955 G>A_AAKAKSKTKLGPREKTLKDSRSKTA
3:120998780-120998780 G>A	0.0	4000	MELANOMA	-	-	-	-	STXBP5L	uc003eec.4,p.R696Q|ENST00000273666,p.R696Q|ENST00000492541,p.R696Q|ENST00000497029,p.R696Q|ENST00000471262,p.R696Q|NM_014980,p.R696Q	protein_coding, nonsense_mediated_decay	uc003eec.4	nonsynonymous SNV	exon19	c.G2087A	p.R696Q	SSDLYQRQPRSPRKNKQFIADNFCM	SSDLYQRQPRSPQKNKQFIADNFCM	1.0	5.0	unscreened	-	4000_3:120998780-120998780 G>A_SSDLYQRQPRSPQKNKQFIADNFCM
2:162719552-162719552 C>T	0.0	4000	MELANOMA	-	-	-	-	SLC4A10	uc010fpa.1,p.P261L|ENST00000446997,p.P249L|NM_001178016,p.P260L|NM_022058,p.P249L|uc010zcs.2,p.P260L|ENST00000446228,p.P249L|ENST00000272716,p.P249L|ENST00000375514,p.P260L|ENST00000421911,p.P249L|uc002uby.4,p.P249L|ENST00000535165,p.P249L|uc002ubx.4,p.P249L|NM_001178015,p.P249L|ENST00000415876,p.P249L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zcs.2	nonsynonymous SNV	exon7	c.C779T	p.P260L	RSFADIGKKQSEPNSMDKNAGQVVS	RSFADIGKKQSELNSMDKNAGQVVS	3.0	7.0	unscreened	-	4000_2:162719552-162719552 C>T_RSFADIGKKQSELNSMDKNAGQVVS
1:176759108-176759108 G>A	0.0	4000	MELANOMA	-	-	ID=COSM3478924;OCCURENCE=1(breast)	-	PAPPA2	uc001gkz.3,p.E1627K|NM_020318,p.E1627K|ENST00000367662,p.E1627K	protein_coding, processed_transcript	uc001gkz.3	nonsynonymous SNV	exon18	c.G4879A	p.E1627K	DSQCVLNCNQEREKLPILCTKEGLW	DSQCVLNCNQERKKLPILCTKEGLW	1.0	5.0	unscreened	-	4000_1:176759108-176759108 G>A_DSQCVLNCNQERKKLPILCTKEGLW
12:53045512-53045512 C>T	0.0	4000	MELANOMA	-	-	-	-	KRT2	ENST00000309680,p.G139S|NM_000423,p.G139S|uc001sat.3,p.G139S	retained_intron, protein_coding	uc001sat.3	nonsynonymous SNV	exon1	c.G415A	p.G139S	GGPGGVGGLGGPGGFGPGGYPGGIH	GGPGGVGGLGGPSGFGPGGYPGGIH	1.0	5.0	unscreened	-	4000_12:53045512-53045512 C>T_GGPGGVGGLGGPSGFGPGGYPGGIH
11:26465323-26465323 G>A	0.0	4000	MELANOMA	-	-	-	-	ANO3	ENST00000256737,p.E85K|ENST00000525139,p.E69K|ENST00000531646,p.E85K|NM_031418,p.E85K|uc010rdr.2,p.E69K|ENST00000537978,p.E69K|uc001mqt.4,p.E85K	protein_coding, processed_transcript	uc010rdr.2	nonsynonymous SNV	exon4	c.G205A	p.E69K	ISTDKAEQVNTEENKNDSVLRCSFA	ISTDKAEQVNTEKNKNDSVLRCSFA	1.0	5.0	unscreened	-	4000_11:26465323-26465323 G>A_ISTDKAEQVNTEKNKNDSVLRCSFA
5:121786286-121786286 G>A	0.0	4000	MELANOMA	-	-	-	-	SNCAIP	uc003ksy.1,p.D216N|uc003kta.1,p.D214N|NM_001242935,p.D216N|uc003ksw.1,p.D582N|uc003ksz.1,p.D216N|uc010jcw.1,p.D276N|ENST00000379536,p.D522N|ENST00000261367,p.D629N|uc010jcx.1,p.D522N|uc011cwm.1,p.D216N|uc003ksx.1,p.D629N|NM_005460,p.D582N|uc011cwl.1,p.D140N|ENST00000379538,p.D216N|ENST00000509154,p.D522N|ENST00000261368,p.D582N|uc010jcu.2,p.D178N|ENST00000379533,p.D629N|uc003ktc.1,p.D98N|ENST00000542191,p.D140N|ENST00000414317,p.D184N	retained_intron, protein_coding, nonsense_mediated_decay	uc011cwm.1	nonsynonymous SNV	exon8	c.G646A	p.D216N	RKSQWKSPDADDDSVAKSKPGVQEG	RKSQWKSPDADDNSVAKSKPGVQEG	4.0	6.0	unscreened	-	4000_5:121786286-121786286 G>A_RKSQWKSPDADDNSVAKSKPGVQEG
1:152327089-152327089 G>A	0.0	4000	MELANOMA	-	-	-	-	FLG2	ENST00000388718,p.S1058L|uc001ezw.4,p.S1058L|NM_001014342,p.S1058L	protein_coding	uc001ezw.4	nonsynonymous SNV	exon3	c.C3173T	p.S1058L	DQSSGFGQHGTGSGQSSGFGQYESR	DQSSGFGQHGTGLGQSSGFGQYESR	1.0	5.0	unscreened	-	4000_1:152327089-152327089 G>A_DQSSGFGQHGTGLGQSSGFGQYESR
3:161214930-161214930 A>T	0.0	4000	MELANOMA	-	-	-	-	OTOL1	uc011bpb.2,p.K112I|NM_001080440,p.K112I|ENST00000327928,p.K112I	protein_coding	uc011bpb.2	nonsynonymous SNV	exon1	c.A335T	p.K112I	NCCDCCSPVPGQKGEPGETGQPGPK	NCCDCCSPVPGQIGEPGETGQPGPK	1.0	6.0	unscreened	-	4000_3:161214930-161214930 A>T_NCCDCCSPVPGQIGEPGETGQPGPK
19:23158640-23158640 C>T	0.0	4000	MELANOMA	-	-	-	-	ZNF728	uc002nqz.2,p.R500K|uc002nqy.2,p.R317K|NM_001267716,p.R500K|ENST00000594710,p.R500K	protein_coding	uc002nqz.2	nonsynonymous SNV	exon4	c.G1499A	p.R500K	AFKWSSNLMEHKRIHTGEKPYKCEE	AFKWSSNLMEHKKIHTGEKPYKCEE	3.0	5.0	unscreened	-	4000_19:23158640-23158640 C>T_AFKWSSNLMEHKKIHTGEKPYKCEE
1:6529202-6529202 C>T	0.0	4000	MELANOMA	0.0	-	-	-	PLEKHG5	NM_001042664,p.E717K|uc001ann.1,p.E754K|NM_001042663,p.E773K|ENST00000377748,p.E794K|ENST00000377740,p.E794K|ENST00000340850,p.E717K|uc009vma.1,p.E557K|uc001ank.1,p.E717K|uc001anq.2,p.E794K|uc001ano.1,p.E773K|NM_001042665,p.E717K|uc001anl.2,p.E717K|NM_020631,p.E717K|NM_001265592,p.E796K|uc009vmb.2,p.E717K|ENST00000535355,p.E786K|ENST00000400915,p.E773K|ENST00000400913,p.E717K|uc001anp.2,p.E794K|ENST00000377728,p.E717K|ENST00000377725,p.E717K|ENST00000544978,p.E717K|ENST00000377737,p.E717K|NM_001265593,p.E786K|uc001anj.1,p.E278K|uc031plb.1,p.E796K|uc010nzr.1,p.E786K|uc001anm.2,p.E717K|NM_198681,p.E794K|NM_001265594,p.E717K|ENST00000377732,p.E754K|ENST00000537245,p.E796K	retained_intron, protein_coding	uc031plb.1	nonsynonymous SNV	exon20	c.G2386A	p.E796K	EEEEDEQEEEEEEEEEEEEGEDSGT	EEEEDEQEEEEEKEEEEEEGEDSGT	4.0	5.0	unscreened	-	4000_1:6529202-6529202 C>T_EEEEDEQEEEEEKEEEEEEGEDSGT
5:42759227-42759227 G>A	0.0	4000	MELANOMA	-	-	-	-	CCDC152	uc011cpr.1,p.D2N|ENST00000361970,p.D2N|uc003jmx.3,p.D2N|ENST00000388827,p.D2N|NM_001134848,p.D2N	protein_coding	uc011cpr.1	nonsynonymous SNV	exon2	c.G4A	p.D2N	MDQSSEGCMKKISS	MNQSSEGCMKKISS	4.0	5.0	unscreened	-	4000_5:42759227-42759227 G>A_MNQSSEGCMKKISS
2:152376249-152376249 C>T	1.0	4000	MELANOMA	-	-	-	-	NEB	NM_001164508,p.G7505S|uc031rpp.1,p.G7540S|uc002txt.4,p.G309S|ENST00000604864,p.G7505S|ENST00000427231,p.G7505S|ENST00000603639,p.G7505S|uc021vrd.1,p.G5804S|uc021vrb.1,p.G5804S|ENST00000172853,p.G5804S|ENST00000409198,p.G5804S|NM_001164507,p.G7505S|ENST00000397345,p.G7505S|ENST00000413693,p.G2235S|NM_001271208,p.G7540S|uc002txr.3,p.G2270S|uc002txu.3,p.G7505S|uc021vrc.1,p.G7505S	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon155	c.G22618A	p.G7540S	QVKYRENFDKEKGKTPKYNPKDSQL	QVKYRENFDKEKSKTPKYNPKDSQL	4.0	7.0	-	-	4000_2:152376249-152376249 C>T_QVKYRENFDKEKSKTPKYNPKDSQL
3:98002666-98002666 G>A	0.0	4000	MELANOMA	-	-	-	-	OR5H2	ENST00000355273,p.R312K|uc003dsj.1,p.R312K|NM_001005482,p.R312K	protein_coding	uc003dsj.1	nonsynonymous SNV	exon1	c.G935A	p.R312K	KQVIDSFTKMVKRNV	KQVIDSFTKMVKKNV	1.0	5.0	unscreened	-	4000_3:98002666-98002666 G>A_KQVIDSFTKMVKKNV
1:179504088-179504088 C>T	0.0	4000	MELANOMA	-	-	-	-	AXDND1	NM_144696,p.P1008S|uc021pfj.1,p.P892S|ENST00000367618,p.P1008S|uc001gmo.3,p.P1008S|ENST00000434088,p.P868S	protein_coding, processed_transcript, nonsense_mediated_decay	uc021pfj.1	nonsynonymous SNV	exon21	c.C2674T	p.P892S	EEVRSAENSSKSPKKGH	EEVRSAENSSKSSKKGH	3.0	6.0	unscreened	-	4000_1:179504088-179504088 C>T_EEVRSAENSSKSSKKGH
12:6620340-6620340 T>C	1.0	4037	LUNG	-	-	-	-	NCAPD2	NM_014865,p.L170P|uc010sfd.1,p.L125P|ENST00000545962,p.L125P|uc001qoo.2,p.L170P|ENST00000315579,p.L170P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sfd.1	nonsynonymous SNV	exon5	c.T374C	p.L125P	HGFDWEEERQPILQLLTQLLQLDIR	HGFDWEEERQPIPQLLTQLLQLDIR	8.0	8.0	-	-	4037_12:6620340-6620340 T>C_HGFDWEEERQPIPQLLTQLLQLDIR
11:33080641-33080641 A>T	1.0	4037	LUNG	-	-	-	-	TCP11L1	NM_018393,p.N259Y|ENST00000527661,p.N259Y|uc009yju.3,p.N74Y|ENST00000531632,p.N259Y|ENST00000334274,p.N259Y|uc001mud.3,p.N259Y|uc010rei.2,p.N259Y|NM_001145541,p.N259Y|ENST00000432887,p.N259Y|uc001mue.3,p.N259Y|ENST00000324357,p.N38Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rei.2	nonsynonymous SNV	exon6	c.A775T	p.N259Y	RKKFQEILERQPNSLDFVTQWLEEA	RKKFQEILERQPYSLDFVTQWLEEA	7.0	6.0	unscreened	-	4037_11:33080641-33080641 A>T_RKKFQEILERQPYSLDFVTQWLEEA
1:222843302-222843302 T>G	1.0	4037	LUNG	-	-	-	-	AIDA	ENST00000541237,p.K261T|uc010pus.2,p.K261T|ENST00000355727,p.K203T|NM_022831,p.K285T|ENST00000340020,p.K285T|uc001hnn.3,p.K285T	protein_coding, processed_transcript	uc010pus.2	nonsynonymous SNV	exon10	c.A782C	p.K261T	IELYKKPTDFKRKKLQLLTKKPLYL	IELYKKPTDFKRTKLQLLTKKPLYL	9.0	5.0	unscreened	-	4037_1:222843302-222843302 T>G_IELYKKPTDFKRTKLQLLTKKPLYL
11:82874752-82874752 A>C	1.0	4037	LUNG	-	-	-	-	PCF11	ENST00000533018,p.K75T	retained_intron, protein_coding, TEC	ENST00000533018	nonsynonymous SNV	exon2	c.A224C	p.K75T	AKVDENTRKSLFKLRSTWDEIFPLK	AKVDENTRKSLFTLRSTWDEIFPLK	9.0	4.0	unscreened	-	4037_11:82874752-82874752 A>C_AKVDENTRKSLFTLRSTWDEIFPLK
11:82874752-82874752 A>C	1.0	4037	LUNG	-	-	-	-	PCF11	uc010rsu.1,p.K117T|NM_015885,p.K117T|uc001ozx.4,p.K117T|ENST00000298281,p.K117T|ENST00000530660,p.K117T|ENST00000530304,p.K117T	retained_intron, protein_coding, TEC	uc010rsu.1	nonsynonymous SNV	exon3	c.A350C	p.K117T	EKVDENTRKSLFKLRSTWDEIFPLK	EKVDENTRKSLFTLRSTWDEIFPLK	9.0	4.0	unscreened	-	4037_11:82874752-82874752 A>C_EKVDENTRKSLFTLRSTWDEIFPLK
6:82921209-82921209 A>G	1.0	4037	LUNG	-	-	-	-	IBTK	NM_001300906,p.L791P|uc003pjl.1,p.L791P|uc011dyv.1,p.L791P|ENST00000510291,p.L791P|ENST00000503631,p.L590P|uc003pjm.2,p.L791P|ENST00000306270,p.L791P|uc011dyw.1,p.L590P|NM_015525,p.L791P|uc010kbi.1,p.L485P	retained_intron, protein_coding, nonsense_mediated_decay	uc011dyw.1	nonsynonymous SNV	exon12	c.T1769C	p.L590P	EFPCHKCVLCARLEYFHSMLSSSWI	EFPCHKCVLCARPEYFHSMLSSSWI	8.0	1.0	unscreened	-	4037_6:82921209-82921209 A>G_EFPCHKCVLCARPEYFHSMLSSSWI
7:101926068-101926068 A>C	1.0	4037	LUNG	-	-	-	1	CUX1	NM_001202544,p.K640T|ENST00000393824,p.K617T|ENST00000437600,p.K654T|NM_001202546,p.K617T|ENST00000292538,p.K656T|ENST00000547394,p.K640T|NM_181500,p.K654T|NM_001202545,p.K610T|uc011kkn.2,p.K617T|uc003uyv.3,p.K640T|uc003uyw.3,p.K610T|uc003uyt.3,p.K656T|ENST00000425244,p.K610T|uc003uyu.3,p.K654T|NM_001913,p.K656T	retained_intron, protein_coding, processed_transcript	uc011kkn.2	nonsynonymous SNV	exon21	c.A1850C	p.K617T	SMERDCATFCAKKFADHLHKFHEND	SMERDCATFCAKTFADHLHKFHEND	8.0	8.0	unscreened	-	4037_7:101926068-101926068 A>C_SMERDCATFCAKTFADHLHKFHEND
7:44098956-44098956 A>G	1.0	4037	LUNG	-	-	-	-	DBNL	uc011kbr.2,p.K229R|uc011kbp.2,p.K232R|NM_001122956,p.K289R|ENST00000448521,p.K280R|uc003tjo.4,p.K281R|ENST00000452943,p.K256R|ENST00000440166,p.K177R|ENST00000490734,p.K186R|NM_001014436,p.K280R|uc011kbn.2,p.K177R|NM_001284315,p.K186R|uc011kbs.2,p.K185R|uc003tjp.4,p.K280R|uc003tjq.4,p.K289R|uc011kbo.2,p.K181R|NM_014063,p.K281R|ENST00000494774,p.K281R|NM_001284313,p.K177R|uc011kbq.2,p.K205R|uc011kbm.2,p.K256R|ENST00000456905,p.K232R|ENST00000468694,p.K289R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kbs.2	nonsynonymous SNV	exon7	c.A554G	p.K185R	MSTTSISSPQPGKLRSPFLQKQLTQ	MSTTSISSPQPGRLRSPFLQKQLTQ	10.0	4.0	unscreened	-	4037_7:44098956-44098956 A>G_MSTTSISSPQPGRLRSPFLQKQLTQ
11:117060738-117060738 T>C	1.0	4037	LUNG	-	-	-	-	SIDT2	NM_001040455,p.L497P|ENST00000324225,p.L497P|uc010rxe.1,p.L497P|uc001pqi.1,p.L494P|uc001pqh.1,p.L497P|ENST00000278951,p.L518P|ENST00000431081,p.L494P|uc001pqg.2,p.L518P	retained_intron, protein_coding, processed_transcript	uc010rxe.1	nonsynonymous SNV	exon16	c.T1490C	p.L497P	YYNFLCAHPLGNLSAFNNILSNLGY	YYNFLCAHPLGNPSAFNNILSNLGY	7.0	3.0	unscreened	-	4037_11:117060738-117060738 T>C_YYNFLCAHPLGNPSAFNNILSNLGY
19:16664588-16664607 CCCCGTGCTGGGGGAAGAGG>-	1.0	4037	LUNG	-	-	-	-	SLC35E1	ENST00000595753,p.L372fs|uc010xph.2,p.L372fs|NM_024881,p.L372fs|ENST00000436553,p.L306fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xph.2	frameshift deletion	exon6	c.1116_1135del	p.L372fs	RHRSPLEKPHNGLLFPQHGDYQYGR	RHRSPLEKPHNGLLSVRPQQHLNRPLPIQPAELPKLVQFEPL	9.0	5.0	unscreened	-	4037_19:16664588-16664607 CCCCGTGCTGGGGGAAGAGG>-_RHRSPLEKPHNGLLSVRPQQHLNRPLPIQPAELPKLVQFEPL
19:17691991-17691991 A>C	1.0	4037	LUNG	-	-	-	-	COLGALT1	uc002nhc.1,p.E536A|ENST00000252599,p.E536A|NM_024656,p.E536A	retained_intron, protein_coding, processed_transcript	uc002nhc.1	nonsynonymous SNV	exon12	c.A1607C	p.E536A	FLPVMFDKHPVSEYKAHFSLRNLHA	FLPVMFDKHPVSAYKAHFSLRNLHA	9.0	2.0	-	-	4037_19:17691991-17691991 A>C_FLPVMFDKHPVSAYKAHFSLRNLHA
1:2338378-2338378 T>C	1.0	4037	LUNG	-	-	-	-	PEX10	uc001ajg.3,p.D206G|NM_153818,p.D206G|ENST00000288774,p.D206G	protein_coding, processed_transcript, nonsense_mediated_decay	uc001ajg.3	nonsynonymous SNV	exon4	c.A617G	p.D206G	RLTGITYQALRPDPLRVLMSVAPSA	RLTGITYQALRPGPLRVLMSVAPSA	9.0	10.0	unscreened	-	4037_1:2338378-2338378 T>C_RLTGITYQALRPGPLRVLMSVAPSA
2:101604638-101604638 A>T	1.0	4037	LUNG	-	-	-	-	NPAS2	uc002tap.1,p.Q576L|ENST00000542504,p.Q641L|uc010yvt.1,p.Q641L|NM_002518,p.Q576L|ENST00000335681,p.Q576L	retained_intron, protein_coding, processed_transcript	uc010yvt.1	nonsynonymous SNV	exon17	c.A1922T	p.Q641L	QQQLQQRSAAVTQPQLGAGPQLPGQ	QQQLQQRSAAVTLPQLGAGPQLPGQ	7.0	2.0	unscreened	-	4037_2:101604638-101604638 A>T_QQQLQQRSAAVTLPQLGAGPQLPGQ
1:10725553-10725553 A>G	1.0	4037	LUNG	-	-	-	-	CASZ1	ENST00000344008,p.L31P|uc001arp.2,p.L31P|uc001aro.4,p.L31P|ENST00000377022,p.L31P|NM_017766,p.L31P|NM_001079843,p.L31P|uc009vmx.2,p.L55P	retained_intron, protein_coding, processed_transcript	uc009vmx.2	nonsynonymous SNV	exon3	c.T164C	p.L55P	PAMAPKRKGGLKLNAICAKLSRQVV	PAMAPKRKGGLKPNAICAKLSRQVV	7.0	10.0	-	-	4037_1:10725553-10725553 A>G_PAMAPKRKGGLKPNAICAKLSRQVV
16:8722605-8722605 A>C	1.0	4037	LUNG	-	-	-	-	METTL22	NM_024109,p.K51T|ENST00000163678,p.K51T|uc002cyz.3,p.K51T|ENST00000563958,p.K51T|ENST00000561758,p.K51T|ENST00000381920,p.K51T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002cyz.3	nonsynonymous SNV	exon3	c.A152C	p.K51T	NSVGQPVFLSQFKLLWSQDSWTDSG	NSVGQPVFLSQFTLLWSQDSWTDSG	7.0	6.0	unscreened	-	4037_16:8722605-8722605 A>C_NSVGQPVFLSQFTLLWSQDSWTDSG
2:219132325-219132325 A>G	1.0	4037	LUNG	-	-	-	-	AAMP	ENST00000447885,p.C50R|uc002vhl.3,p.C97R|ENST00000444053,p.C97R|ENST00000248450,p.C96R|ENST00000420660,p.C77R|NM_001087,p.C96R|uc002vhk.3,p.C96R	retained_intron, protein_coding	uc002vhl.3	nonsynonymous SNV	exon3	c.T289C	p.C97R	EVTFALHSASVFCVSLDPKTNTLAV	EVTFALHSASVFRVSLDPKTNTLAV	9.0	8.0	-	-	4037_2:219132325-219132325 A>G_EVTFALHSASVFRVSLDPKTNTLAV
19:54965711-54965712 CA>-	1.0	4037	LUNG	-	-	-	-	LENG8	ENST00000376526,p.H140fs|ENST00000439657,p.H177fs|ENST00000431846,p.H177fs|NM_052925,p.H177fs|uc002qfv.1,p.H140fs|uc002qfw.2,p.H177fs|ENST00000326764,p.H177fs	retained_intron, protein_coding	uc002qfw.2	frameshift deletion	exon6	c.529_530del	p.H177fs	QPPQPSNPPHGAHTLNSGPQPGTAP	QPPQPSNPPHGAHAEQWPSAWDSSSHTAQPGGARHGPGLWATHLHRTCQAQEGPTAVEPHEARPWDWRSQVQHPEATLCCYHPELWLQRRGPAQWFWPPAQP	10.0	3.0	unscreened	-	4037_19:54965711-54965712 CA>-_QPPQPSNPPHGAHAEQWPSAWDSSSHTAQPGGARHGPGLWATHLHRTCQAQEGPTAVEPHEARPWDWRSQVQHPEATLCCYHPELWLQRRGPAQWFWPPAQP
19:11134257-11134257 T>G	1.0	4037	LUNG	-	-	-	1	SMARCA4	uc002mqh.4,p.F98V|ENST00000590574,p.F975V|ENST00000589677,p.F975V|uc010dxs.3,p.F975V|uc002mqf.4,p.F975V|NM_003072,p.F975V|uc010dxo.3,p.F975V|NM_001128846,p.F975V|NM_001128847,p.F975V|ENST00000358026,p.F975V|uc010dxp.3,p.F975V|ENST00000413806,p.F975V|NM_001128844,p.F975V|uc002mqg.1,p.F975V|uc010dxt.1,p.F195V|ENST00000429416,p.F975V|ENST00000541122,p.F975V|NM_001128849,p.F975V|uc002mqj.4,p.F975V|ENST00000450717,p.F975V|uc010dxr.3,p.F975V|uc002mqi.1,p.F178V|ENST00000344626,p.F975V|NM_001128848,p.F975V|uc010dxq.3,p.F975V|NM_001128845,p.F975V|ENST00000444061,p.F975V	retained_intron, protein_coding, processed_transcript	uc010dxt.1	nonsynonymous SNV	exon5	c.T583G	p.F195V	LIIRRLHKVLRPFLLRRLKKEVEAQ	LIIRRLHKVLRPVLLRRLKKEVEAQ	10.0	3.0	unscreened	-	4037_19:11134257-11134257 T>G_LIIRRLHKVLRPVLLRRLKKEVEAQ
9:35707807-35707807 T>G	1.0	4037	LUNG	-	-	-	-	TLN1	ENST00000314888,p.N1518T|NM_006289,p.N1518T|ENST00000540444,p.N1518T|uc003zxt.2,p.N1518T	retained_intron, protein_coding, processed_transcript	uc003zxt.2	nonsynonymous SNV	exon35	c.A4553C	p.N1518T	CNSCRLASARTTNPTAKRQFVQSAK	CNSCRLASARTTTPTAKRQFVQSAK	9.0	5.0	unscreened	-	4037_9:35707807-35707807 T>G_CNSCRLASARTTTPTAKRQFVQSAK
17:61428758-61428758 C>G	1.0	4037	LUNG	-	-	-	-	TANC2	uc010wpe.2,p.T488R|ENST00000424789,p.T578R|NM_025185,p.T578R|uc002jal.4,p.T578R|ENST00000389520,p.T578R	retained_intron, protein_coding	uc010wpe.2	nonsynonymous SNV	exon8	c.C1463G	p.T488R	IGKFPSWLKLIVTVRTSLQEITKLL	IGKFPSWLKLIVRVRTSLQEITKLL	6.0	9.0	unscreened	-	4037_17:61428758-61428758 C>G_IGKFPSWLKLIVRVRTSLQEITKLL
3:148880612-148880612 T>G	1.0	4037	LUNG	-	-	-	-	HPS3	uc011bnq.1,p.L645V|ENST00000296051,p.L810V|NM_032383,p.L810V|ENST00000460120,p.L645V|uc003ewu.1,p.L810V|ENST00000460822,p.L186V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bnq.1	nonsynonymous SNV	exon12	c.T1933G	p.L645V	LFFKLTSQYIWRLSKRQPPDTTPLR	LFFKLTSQYIWRVSKRQPPDTTPLR	8.0	3.0	unscreened	-	4037_3:148880612-148880612 T>G_LFFKLTSQYIWRVSKRQPPDTTPLR
3:179051916-179051916 T>-	1.0	4037	LUNG	-	-	-	-	ZNF639	uc003fjr.1,p.N388fs|NM_016331,p.N388fs|ENST00000326361,p.N388fs|ENST00000484866,p.N388fs|ENST00000496856,p.N388fs|uc003fjq.1,p.N388fs	retained_intron, protein_coding, processed_transcript	uc003fjr.1	frameshift deletion	exon7	c.1164delT	p.N388fs	CQVCGFRSRLHTNVNRHVAIEHTKI	CQVCGFRSRLHTKLTGMLLLNIQKFFLMFVMTVGKAFQVC	9.0	5.0	unscreened	-	4037_3:179051916-179051916 T>-_CQVCGFRSRLHTKLTGMLLLNIQKFFLMFVMTVGKAFQVC
5:170818389-170818389 A>C	1.0	4037	LUNG	-	-	-	1	NPM1	uc003mbi.3,p.K73N|ENST00000296930,p.K73N|NM_199185,p.K73N|NM_001037738,p.K73N|ENST00000517671,p.K73N|uc003mbh.3,p.K73N|uc003mbj.3,p.K73N|ENST00000351986,p.K73N|NM_002520,p.K73N|ENST00000393820,p.K73N	retained_intron, protein_coding	uc003mbj.3	nonsynonymous SNV	exon3	c.A219C	p.K73N	EAEAMNYEGSPIKVTLATLKMSVQP	EAEAMNYEGSPINVTLATLKMSVQP	10.0	8.0	CD8	-	4037_5:170818389-170818389 A>C_EAEAMNYEGSPINVTLATLKMSVQP
1:153719503-153719503 T>G	1.0	4037	LUNG	-	-	-	-	INTS3	ENST00000435409,p.L130R|ENST00000318967,p.L130R|uc009wom.3,p.L130R|uc001fct.3,p.L130R|NM_023015,p.L130R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009wom.3	nonsynonymous SNV	exon5	c.T389G	p.L130R	GMNIVLNKINQILMEKYLKLQDTCR	GMNIVLNKINQIRMEKYLKLQDTCR	8.0	6.0	unscreened	-	4037_1:153719503-153719503 T>G_GMNIVLNKINQIRMEKYLKLQDTCR
7:105122883-105122883 T>G	1.0	4037	LUNG	-	-	-	-	PUS7	ENST00000481939,p.T309P|uc010lji.3,p.T315P|NM_019042,p.T309P|uc003vcy.3,p.T309P|uc003vcx.3,p.T309P|ENST00000469408,p.T309P|uc003vcz.1,p.T309P|ENST00000356362,p.T309P	retained_intron, protein_coding, nonsense_mediated_decay	uc010lji.3	nonsynonymous SNV	exon8	c.A943C	p.T315P	AITVQEIAVLKITAQRLAHLNKCLM	AITVQEIAVLKIPAQRLAHLNKCLM	7.0	5.0	-	-	4037_7:105122883-105122883 T>G_AITVQEIAVLKIPAQRLAHLNKCLM
17:27013362-27013362 A>C	1.0	4037	LUNG	-	-	-	-	SUPT6H	ENST00000347486,p.Q831H|uc010crt.3,p.Q831H|NM_003170,p.Q831H|uc002hby.3,p.Q831H|ENST00000314616,p.Q831H	retained_intron, protein_coding, nonsense_mediated_decay	uc010crt.3	nonsynonymous SNV	exon21	c.A2493C	p.Q831H	TAWREEEREKKAQDIETLKKFLLNK	TAWREEEREKKAHDIETLKKFLLNK	8.0	6.0	unscreened	-	4037_17:27013362-27013362 A>C_TAWREEEREKKAHDIETLKKFLLNK
14:78399630-78399630 T>G	1.0	4037	LUNG	-	-	-	-	ADCK1	ENST00000341211,p.L422V|uc001xuj.3,p.L422V|ENST00000238561,p.L490V|NM_020421,p.L490V|uc001xul.3,p.L197V|uc001xui.3,p.L490V|NM_001142545,p.L422V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xul.3	nonsynonymous SNV	exon4	c.T589G	p.L197V	RRTQISFSEAFNLWQINLHELILRV	RRTQISFSEAFNVWQINLHELILRV	6.0	8.0	unscreened	-	4037_14:78399630-78399630 T>G_RRTQISFSEAFNVWQINLHELILRV
16:22277840-22277840 G>A	1.0	4037	LUNG	-	-	-	-	EEF2K	NM_013302,p.G524R|ENST00000263026,p.G524R|uc002dki.3,p.G524R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dki.3	nonsynonymous SNV	exon14	c.G1570A	p.G524R	LDLEKKIGKSILGKVHLAMVRYHEG	LDLEKKIGKSILRKVHLAMVRYHEG	9.0	9.0	-	-	4037_16:22277840-22277840 G>A_LDLEKKIGKSILRKVHLAMVRYHEG
17:7287840-7287840 T>C	1.0	4037	LUNG	-	-	-	-	TNK1	NM_001251902,p.S302P|uc002ggi.4,p.S302P|ENST00000570896,p.S302P|ENST00000311668,p.S302P|uc002ggj.4,p.S302P|NM_003985,p.S302P|ENST00000576812,p.S302P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ggj.4	nonsynonymous SNV	exon7	c.T904C	p.S302P	CAPESLRHGAFSSASDVWMFGVTLW	CAPESLRHGAFSPASDVWMFGVTLW	9.0	3.0	-	-	4037_17:7287840-7287840 T>C_CAPESLRHGAFSPASDVWMFGVTLW
3:130660527-130660527 A>C	1.0	4037	LUNG	-	-	-	-	ATP2C1	uc003enp.3,p.D172A|uc011blg.2,p.D206A|uc003ens.3,p.D172A|NM_001001485,p.D172A|ENST00000393221,p.D206A|ENST00000328560,p.D172A|uc003eno.3,p.D172A|uc003enn.3,p.D156A|ENST00000505330,p.D156A|NM_001199184,p.D156A|ENST00000533801,p.D167A|NM_001001486,p.D172A|NM_001199181,p.D206A|uc003enl.3,p.D172A|NM_001199185,p.D172A|NM_001001487,p.D172A|NM_014382,p.D172A|NM_001199179,p.D172A|ENST00000428331,p.D172A|ENST00000422190,p.D172A|ENST00000359644,p.D172A|NM_001199183,p.D156A|uc003ent.3,p.D172A|ENST00000504381,p.D117A|NM_001199180,p.D206A|uc011bli.2,p.D206A|uc011blh.2,p.D167A|ENST00000504948,p.D156A|ENST00000510168,p.D172A|ENST00000508532,p.D172A|ENST00000513801,p.D156A|NM_001199182,p.D167A|ENST00000507488,p.D156A|uc003enk.3,p.D156A|uc003enm.3,p.D172A	retained_intron, protein_coding, nonsense_mediated_decay	uc011bli.2	nonsynonymous SNV	exon7	c.A617C	p.D206A	TVCLSVGDRVPADLRLFEAVDLSID	TVCLSVGDRVPAALRLFEAVDLSID	9.0	7.0	unscreened	-	4037_3:130660527-130660527 A>C_TVCLSVGDRVPAALRLFEAVDLSID
7:29994925-29994925 T>A	1.0	4037	LUNG	-	-	-	-	SCRN1	uc003tak.3,p.S71C|ENST00000426154,p.S71C|ENST00000438497,p.S71C|ENST00000409570,p.S71C|NM_014766,p.S71C|ENST00000434476,p.S91C|NM_001145513,p.S71C|ENST00000409497,p.S71C|uc010kvp.3,p.S71C|uc011kaa.2,p.S91C|ENST00000242059,p.S71C|ENST00000421434,p.S71C|NM_001145514,p.S91C|uc011jzz.2,p.S71C	protein_coding, processed_transcript	uc011kaa.2	nonsynonymous SNV	exon3	c.A271T	p.S91C	IDQVPRTYAIMISRPAWLWGAEMGA	IDQVPRTYAIMICRPAWLWGAEMGA	9.0	3.0	unscreened	-	4037_7:29994925-29994925 T>A_IDQVPRTYAIMICRPAWLWGAEMGA
1:11736935-11736935 T>G	1.0	4037	LUNG	-	-	-	-	MAD2L2	ENST00000376692,p.E101A|uc009vnc.3,p.E101A|NM_006341,p.E101A|ENST00000376667,p.E101A|uc001asq.4,p.E101A|NM_001127325,p.E101A|ENST00000235310,p.E101A|uc001asp.3,p.E101A|ENST00000456915,p.E101A|ENST00000445656,p.E131A	protein_coding	uc009vnc.3	nonsynonymous SNV	exon5	c.A302C	p.E101A	DKEHRPVEKFVFEITQPPLLSISSD	DKEHRPVEKFVFAITQPPLLSISSD	7.0	2.0	unscreened	-	4037_1:11736935-11736935 T>G_DKEHRPVEKFVFAITQPPLLSISSD
7:75684239-75684239 T>G	1.0	4037	LUNG	-	-	-	-	MDH2	ENST00000432020,p.L53R|uc003ueo.3,p.L53R|uc011kgh.2,p.L53R|ENST00000315758,p.L53R|NM_005918,p.L53R|NM_001282403,p.L53R	retained_intron, protein_coding, processed_transcript	uc011kgh.2	nonsynonymous SNV	exon2	c.T158G	p.L53R	SLLLKNSPLVSRLTLYDIAHTPGVA	SLLLKNSPLVSRRTLYDIAHTPGVA	9.0	2.0	unscreened	-	4037_7:75684239-75684239 T>G_SLLLKNSPLVSRRTLYDIAHTPGVA
21:38568283-38568283 A>C	1.0	4037	LUNG	-	-	-	-	TTC3	uc010gnf.3,p.K1607T|uc002ywb.3,p.K1842T|NM_003316,p.K1842T|uc002yvz.3,p.K1842T|ENST00000355666,p.K1842T|uc002ywc.3,p.K1532T|ENST00000399017,p.K1842T|ENST00000354749,p.K1842T|uc002ywa.3,p.K1842T|NM_001001894,p.K1842T	retained_intron, protein_coding, processed_transcript	uc010gnf.3	nonsynonymous SNV	exon40	c.A4820C	p.K1607T	PGRAARSSQSPKKPFNSIIEHLSVV	PGRAARSSQSPKTPFNSIIEHLSVV	10.0	2.0	unscreened	-	4037_21:38568283-38568283 A>C_PGRAARSSQSPKTPFNSIIEHLSVV
9:5713904-5713904 C>G	1.0	4037	LUNG	-	-	-	-	RIC1	ENST00000449720,p.P35R|ENST00000381532,p.P35R|uc003zjh.4,p.P114R|ENST00000251879,p.P114R|NM_001135920,p.P114R|uc003zji.4,p.P114R|uc003zjl.4,p.P114R|ENST00000414202,p.P114R|NM_020829,p.P114R|ENST00000418622,p.P35R|NM_001206557,p.P114R	retained_intron, protein_coding, nonsense_mediated_decay	uc003zjl.4	nonsynonymous SNV	exon4	c.C341G	p.P114R	KYLYEPVYPKGSPQMKGTPHFKEEQ	KYLYEPVYPKGSRQMKGTPHFKEEQ	9.0	9.0	unscreened	-	4037_9:5713904-5713904 C>G_KYLYEPVYPKGSRQMKGTPHFKEEQ
1:11736935-11736935 T>G	1.0	4037	LUNG	-	-	-	-	MAD2L2	ENST00000376669,p.E101A|ENST00000376672,p.E101A	protein_coding	ENST00000376672	nonsynonymous SNV	exon5	c.A302C	p.E101A	DKEHRPVEKFVFEITQPPLLSIRWA	DKEHRPVEKFVFAITQPPLLSIRWA	7.0	2.0	unscreened	-	4037_1:11736935-11736935 T>G_DKEHRPVEKFVFAITQPPLLSIRWA
3:169985714-169985714 C>A	1.0	4037	LUNG	-	-	-	-	PRKCI	NM_002740,p.R126S|uc003fgs.2,p.R126S|ENST00000295797,p.R126S	retained_intron, protein_coding	uc003fgs.2	nonsynonymous SNV	exon5	c.C376A	p.R126S	GMPCPGEDKSIYRRGARRWRKLYCA	GMPCPGEDKSIYSRGARRWRKLYCA	9.0	8.0	-	-	4037_3:169985714-169985714 C>A_GMPCPGEDKSIYSRGARRWRKLYCA
2:170804159-170804159 G>C	1.0	4037	LUNG	-	-	-	-	UBR3	NM_172070,p.E1006D|ENST00000418381,p.E1006D|ENST00000272793,p.E1006D|uc010zdi.2,p.E1006D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zdi.2	nonsynonymous SNV	exon22	c.G3018C	p.E1006D	RHFINYVRVRVPETAPEVKRDSPAS	RHFINYVRVRVPDTAPEVKRDSPAS	8.0	9.0	unscreened	-	4037_2:170804159-170804159 G>C_RHFINYVRVRVPDTAPEVKRDSPAS
10:94225523-94225523 G>T	1.0	4037	LUNG	-	-	-	-	IDE	NM_004969,p.Q800K|NM_001165946,p.Q245K|uc001kia.3,p.Q800K|uc001khz.3,p.Q245K|ENST00000371581,p.Q245K|uc010qnp.2,p.Q245K|ENST00000265986,p.Q800K	protein_coding, processed_transcript	uc010qnp.2	nonsynonymous SNV	exon10	c.C733A	p.Q245K	NCGIEIYYQTDMQSTSENMFLELFC	NCGIEIYYQTDMKSTSENMFLELFC	6.0	10.0	-	-	4037_10:94225523-94225523 G>T_NCGIEIYYQTDMKSTSENMFLELFC
16:82124545-82124545 T>C	1.0	4037	LUNG	-	-	-	-	HSD17B2	ENST00000568090,p.S99P|ENST00000199936,p.S235P|uc002fgv.3,p.S235P|ENST00000566838,p.S111P|NM_002153,p.S235P	protein_coding, TEC	uc002fgv.3	nonsynonymous SNV	exon4	c.T703C	p.S235P	GAPMERLASYGSSKAAVTMFSSVMR	GAPMERLASYGSPKAAVTMFSSVMR	5.0	9.0	unscreened	-	4037_16:82124545-82124545 T>C_GAPMERLASYGSPKAAVTMFSSVMR
19:42462972-42462972 T>C	1.0	4037	LUNG	-	-	-	-	RABAC1	uc002osf.3,p.E62G|NM_006423,p.E62G|ENST00000601028,p.E32G|ENST00000222008,p.E62G|ENST00000601891,p.E62G	retained_intron, protein_coding	uc002osf.3	nonsynonymous SNV	exon2	c.A185G	p.E62G	DQQRFSRPRNLGELCQRLVRNVEYY	DQQRFSRPRNLGGLCQRLVRNVEYY	9.0	4.0	unscreened	-	4037_19:42462972-42462972 T>C_DQQRFSRPRNLGGLCQRLVRNVEYY
4:57209052-57209053 AC>-	1.0	4037	LUNG	-	-	-	-	AASDH	ENST00000205214,p.C952fs|uc011cab.2,p.C467fs|NM_001286669,p.C799fs|uc010ihb.3,p.C467fs|ENST00000434343,p.C467fs|NM_181806,p.C952fs|NM_001286670,p.C467fs|uc003hbo.3,p.C852fs|ENST00000513376,p.C852fs|NM_001286668,p.C852fs|uc003hbn.3,p.C952fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cab.2	frameshift deletion	exon11	c.1400_1401del	p.C467fs	LFSSPQCCSQYICIGCVDGNLLCFT	LFSSPQCCSQYIYWLCRWEFTLLYSLWRTGLAVLYQWTNLFIPVYLTIRAKNIFWFP	7.0	7.0	unscreened	-	4037_4:57209052-57209053 AC>-_LFSSPQCCSQYIYWLCRWEFTLLYSLWRTGLAVLYQWTNLFIPVYLTIRAKNIFWFP
6:105821324-105821324 T>G	1.0	4037	LUNG	-	-	-	-	PREP	NM_002726,p.K172T|ENST00000369110,p.K172T|uc003prc.3,p.K172T	protein_coding	uc003prc.3	nonsynonymous SNV	exon5	c.A515C	p.K172T	GAKELPDVLERVKFSCMAWTHDGKG	GAKELPDVLERVTFSCMAWTHDGKG	8.0	9.0	-	-	4037_6:105821324-105821324 T>G_GAKELPDVLERVTFSCMAWTHDGKG
3:14190128-14190128 T>G	1.0	4037	LUNG	-	-	-	1	XPC	uc011ave.2,p.K785T|ENST00000449060,p.K748T|uc011avf.2,p.K592T|uc011avg.2,p.K748T|ENST00000285021,p.K785T|NM_004628,p.K785T	retained_intron, protein_coding, nonsense_mediated_decay	uc011avg.2	nonsynonymous SNV	exon13	c.A2243C	p.K748T	QLNLPNLHRVARKLDIDCVQAITGF	QLNLPNLHRVARTLDIDCVQAITGF	7.0	7.0	unscreened	-	4037_3:14190128-14190128 T>G_QLNLPNLHRVARTLDIDCVQAITGF
20:20453474-20453474 A>C	1.0	4037	LUNG	-	-	-	-	RALGAPA2	uc002wsa.1,p.L604V	protein_coding, processed_transcript	uc002wsa.1	nonsynonymous SNV	exon10	c.T1810G	p.L604V	RAVKCLIPLYQSLYLFALNV	RAVKCLIPLYQSVYLFALNV	7.0	8.0	unscreened	-	4037_20:20453474-20453474 A>C_RAVKCLIPLYQSVYLFALNV
1:19445366-19445366 T>C	1.0	4037	LUNG	-	-	-	-	UBR4	ENST00000375226,p.N3490S|ENST00000375217,p.N3507S|uc001bbi.3,p.N3514S|ENST00000375254,p.N3514S|NM_020765,p.N3514S|ENST00000375267,p.N3514S	protein_coding, processed_transcript	uc001bbi.3	nonsynonymous SNV	exon71	c.A10541G	p.N3514S	HILTNHPNSNIYNTLSGLVEFDGYY	HILTNHPNSNIYSTLSGLVEFDGYY	8.0	2.0	unscreened	-	4037_1:19445366-19445366 T>C_HILTNHPNSNIYSTLSGLVEFDGYY
7:89866208-89866208 T>-	1.0	4037	LUNG	-	-	-	-	STEAP2	NM_001244946,p.F397fs|uc003ukc.3,p.F397fs|ENST00000394632,p.F397fs	retained_intron, protein_coding	uc003ukc.3	frameshift deletion	exon6	c.1189delT	p.F397fs	ALNWREFSFIQIFCSFADTQTELEL	ALNWREFSFIQIFAALQIPRLSWNWNLSSY	5.0	10.0	unscreened	-	4037_7:89866208-89866208 T>-_ALNWREFSFIQIFAALQIPRLSWNWNLSSY
1:52870519-52870519 A>C	1.0	4037	LUNG	-	-	-	-	PRPF38A	ENST00000257181,p.K33T|NM_032864,p.K33T|uc001ctv.4,p.K33T	protein_coding, processed_transcript	uc001ctv.4	nonsynonymous SNV	exon1	c.A98C	p.K33T	VEKIIRTRIYESKYWKEECFGLTAE	VEKIIRTRIYESTYWKEECFGLTAE	8.0	2.0	unscreened	-	4037_1:52870519-52870519 A>C_VEKIIRTRIYESTYWKEECFGLTAE
12:132397746-132397746 A>T	1.0	4037	LUNG	-	-	-	-	ULK1	NM_003565,p.D367V|ENST00000321867,p.D367V|uc001uje.3,p.D367V	retained_intron, protein_coding	uc001uje.3	nonsynonymous SNV	exon14	c.A1100T	p.D367V	DDFVMVPAQFPGDLVAEAPSAKPPP	DDFVMVPAQFPGVLVAEAPSAKPPP	8.0	4.0	unscreened	-	4037_12:132397746-132397746 A>T_DDFVMVPAQFPGVLVAEAPSAKPPP
1:25570066-25570066 T>C	1.0	4037	LUNG	-	-	-	-	RSRP1	NM_020317,p.Q244R|ENST00000417642,p.Q245R|uc001bjw.3,p.Q244R|ENST00000243189,p.Q244R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001bjw.3	nonsynonymous SNV	exon4	c.A731G	p.Q244R	DGTRNPNEKPTQQRSIAFSSNNSVA	DGTRNPNEKPTQRRSIAFSSNNSVA	10.0	8.0	unscreened	-	4037_1:25570066-25570066 T>C_DGTRNPNEKPTQRRSIAFSSNNSVA
13:20426238-20426238 A>G	1.0	4037	LUNG	-	-	-	-	ZMYM5	ENST00000337963,p.L28P|NM_001142684,p.L28P|uc010tcn.1,p.L28P|NM_001039649,p.L28P|ENST00000502168,p.L18P|NM_001039650,p.L28P|ENST00000382907,p.L28P|uc001umo.3,p.L28P|ENST00000382905,p.L28P|uc001umn.3,p.L28P	retained_intron, protein_coding	uc010tcn.1	nonsynonymous SNV	exon3	c.T83C	p.L28P	PALLGNMAMATSLMDIGDSFGHPAC	PALLGNMAMATSPMDIGDSFGHPAC	6.0	1.0	unscreened	-	4037_13:20426238-20426238 A>G_PALLGNMAMATSPMDIGDSFGHPAC
2:11593901-11593901 G>T	1.0	4037	LUNG	-	-	-	-	E2F6	NM_198256,p.R63S|uc002rbh.4,p.R63S|ENST00000307236,p.R31S|ENST00000362009,p.R63S|ENST00000381525,p.R63S|NM_001278275,p.R31S|uc002rbf.4,p.R31S	retained_intron, protein_coding, nonsense_mediated_decay	uc002rbh.4	nonsynonymous SNV	exon3	c.C187A	p.R63S	VSMRKALKVKRPRFDVSLVYLTRKF	VSMRKALKVKRPSFDVSLVYLTRKF	6.0	8.0	unscreened	-	4037_2:11593901-11593901 G>T_VSMRKALKVKRPSFDVSLVYLTRKF
16:88808503-88808503 C>A	1.0	4037	LUNG	-	-	-	-	PIEZO1	ENST00000301015,p.C95F|NM_001142864,p.C95F|uc010vpb.2,p.C95F	retained_intron, protein_coding, nonsense_mediated_decay	uc010vpb.2	nonsynonymous SNV	exon4	c.G284T	p.C95F	IVPRLDQLLGPSCSRWETLSRHIGV	IVPRLDQLLGPSFSRWETLSRHIGV	10.0	9.0	unscreened	-	4037_16:88808503-88808503 C>A_IVPRLDQLLGPSFSRWETLSRHIGV
3:157146224-157146224 G>C	1.0	4037	LUNG	-	-	-	-	VEPH1	NM_001167911,p.P195A|ENST00000479987,p.P83A|ENST00000543418,p.P195A|NM_001167912,p.P195A|ENST00000392832,p.P195A|ENST00000392833,p.P195A|uc003fbk.2,p.P195A|uc003fbj.2,p.P195A|NM_024621,p.P195A|ENST00000362010,p.P195A|uc010hvu.2,p.P195A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hvu.2	nonsynonymous SNV	exon5	c.C583G	p.P195A	RVLPAVYEKQPQPINRHLTELLALM	RVLPAVYEKQPQAINRHLTELLALM	6.0	7.0	unscreened	-	4037_3:157146224-157146224 G>C_RVLPAVYEKQPQAINRHLTELLALM
8:17824659-17824659 A>C	1.0	4037	LUNG	-	-	-	1	PCM1	uc011kyh.2,p.N1131T|ENST00000325083,p.N1131T|uc022asj.1,p.N1170T|ENST00000524226,p.N1132T|NM_006197,p.N1131T|ENST00000519253,p.N1131T|uc003wyj.4,p.N1132T|uc003wyi.4,p.N1131T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022asj.1	nonsynonymous SNV	exon20	c.A3509C	p.N1170T	QPVNLFNIPGFTNFSSFAPGMNFSP	QPVNLFNIPGFTTFSSFAPGMNFSP	8.0	7.0	unscreened	-	4037_8:17824659-17824659 A>C_QPVNLFNIPGFTTFSSFAPGMNFSP
3:127429483-127429483 A>C	1.0	4037	LUNG	-	-	-	-	MGLL	uc003ejv.4,p.L143R|uc003ejx.4,p.L169R|uc003ejw.4,p.L179R|ENST00000398104,p.L169R|ENST00000434178,p.L169R|ENST00000487473,p.L93R|NM_001003794,p.L169R|ENST00000398101,p.L143R|ENST00000265052,p.L179R|NM_007283,p.L179R	protein_coding, processed_transcript	uc003ejx.4	nonsynonymous SNV	exon6	c.T506G	p.L169R	TTFKVLAAKVLNLVLPNLSLGPIDS	TTFKVLAAKVLNRVLPNLSLGPIDS	9.0	7.0	unscreened	-	4037_3:127429483-127429483 A>C_TTFKVLAAKVLNRVLPNLSLGPIDS
3:49721523-49721523 C>T	1.0	4037	LUNG	-	-	-	-	MST1	ENST00000449682,p.A706T|uc003cxg.3,p.A706T|NM_020998,p.A706T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003cxg.3	nonsynonymous SNV	exon18	c.G2116A	p.A706T	IPNRVCARSRWPAVFTRVSVFVDWI	IPNRVCARSRWPTVFTRVSVFVDWI	6.0	10.0	unscreened	-	4037_3:49721523-49721523 C>T_IPNRVCARSRWPTVFTRVSVFVDWI
17:80356120-80356120 A>C	1.0	4037	LUNG	-	-	-	-	OGFOD3	uc002keu.2,p.F259V|NM_024648,p.F259V|uc002ket.2,p.F259V|ENST00000329197,p.F259V|NM_175902,p.F259V|ENST00000313056,p.F259V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002keu.2	nonsynonymous SNV	exon8	c.T775G	p.F259V	LSNYLEDFGGGRFMFMEEGANKTVE	LSNYLEDFGGGRVMFMEEGANKTVE	6.0	4.0	unscreened	-	4037_17:80356120-80356120 A>C_LSNYLEDFGGGRVMFMEEGANKTVE
17:35470047-35470047 T>G	1.0	4037	LUNG	-	-	-	-	ACACA	NM_198838,p.E2028A|NM_198839,p.E2106A|NM_198836,p.E2106A|NM_198834,p.E2143A|ENST00000591119,p.E758A|ENST00000360679,p.E2048A|ENST00000394406,p.E2106A|uc010wdb.2,p.E144A|ENST00000361253,p.E232A|uc010wdc.2,p.E232A|ENST00000335166,p.E2028A|uc002hnm.3,p.E2106A|uc002hnl.3,p.E2048A|ENST00000353139,p.E2143A|NM_198837,p.E2048A|uc002hnn.3,p.E2106A|uc010cuy.3,p.E751A|uc002hno.3,p.E2143A|uc002hnk.3,p.E2028A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay	uc010wdc.2	nonsynonymous SNV	exon9	c.A695C	p.E232A	VVIDSSINPRHMEMYADRESRGSVL	VVIDSSINPRHMAMYADRESRGSVL	10.0	3.0	unscreened	-	4037_17:35470047-35470047 T>G_VVIDSSINPRHMAMYADRESRGSVL
6:138657453-138657453 A>C	1.0	4037	LUNG	-	-	-	-	KIAA1244	uc003qhu.3,p.T2122P|ENST00000251691,p.T2122P|NM_020340,p.T2122P	protein_coding	uc003qhu.3	nonsynonymous SNV	exon34	c.A6364C	p.T2122P	EAQIQAWTNMVLTVLNQIQILPDQT	EAQIQAWTNMVLPVLNQIQILPDQT	6.0	2.0	unscreened	-	4037_6:138657453-138657453 A>C_EAQIQAWTNMVLPVLNQIQILPDQT
16:2815370-2815371 CA>-	1.0	4037	LUNG	-	-	-	-	SRRM2	uc002crl.1,p.A1614fs|uc002crj.1,p.A1518fs|uc010bsu.1,p.A1518fs|uc002crk.3,p.A1614fs|ENST00000301740,p.A1614fs|NM_016333,p.A1614fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bsu.1	frameshift deletion	exon10	c.4553_4554del	p.A1518fs	PEVKDKPRAAPRAQSGSDSSPEPKA	PEVKDKPRAAPRAEWF	10.0	10.0	-	-	4037_16:2815370-2815371 CA>-_PEVKDKPRAAPRAEWF
1:150551706-150551706 G>C	1.0	4037	LUNG	-	-	-	-	MCL1	ENST00000369026,p.P101A|NM_021960,p.P101A|uc001euz.3,p.P101A|NM_182763,p.P101A|ENST00000307940,p.P101A|uc001eva.3,p.P101A	protein_coding, processed_transcript	uc001eva.3	nonsynonymous SNV	exon1	c.C301G	p.P101A	VTATPARLLFFAPTRRAAPLEEMEA	VTATPARLLFFAATRRAAPLEEMEA	10.0	8.0	-	-	4037_1:150551706-150551706 G>C_VTATPARLLFFAATRRAAPLEEMEA
1:7811350-7811350 G>A	1.0	4037	LUNG	-	-	-	1	CAMTA1	uc009vmf.3,p.R184Q|uc001aoi.3,p.R1594Q|NM_015215,p.R1594Q|ENST00000439411,p.R1580Q|ENST00000476864,p.R158Q|ENST00000303635,p.R1594Q|uc001aok.4,p.R637Q|uc001aoj.3,p.R557Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc009vmf.3	nonsynonymous SNV	exon4	c.G551A	p.R184Q	RSYYEQKKFQQSRRAAVLIQKYYRS	RSYYEQKKFQQSQRAAVLIQKYYRS	10.0	8.0	unscreened	-	4037_1:7811350-7811350 G>A_RSYYEQKKFQQSQRAAVLIQKYYRS
2:27858070-27858070 A>G	1.0	4037	LUNG	-	-	-	-	GPN1	uc010ymd.2,p.T60A|NM_001145049,p.T70A|ENST00000458167,p.T70A|uc010ymb.2,p.T70A|NM_001145047,p.T153A|uc010yma.2,p.T86A|ENST00000264718,p.T179A|ENST00000515877,p.T86A|uc010ezg.1,p.T60A|uc010ymc.2,p.T179A|NM_001145048,p.T86A|ENST00000424214,p.T86A|ENST00000407583,p.T153A|NM_007266,p.T179A|uc010ezf.3,p.T153A|ENST00000503738,p.T70A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ymd.2	nonsynonymous SNV	exon5	c.A178G	p.T60A	YVMDTSRSTNPVTFMSNMLYACSIL	YVMDTSRSTNPVAFMSNMLYACSIL	9.0	2.0	unscreened	-	4037_2:27858070-27858070 A>G_YVMDTSRSTNPVAFMSNMLYACSIL
3:13670519-13670519 A>T	1.0	4037	LUNG	-	-	-	2	FBLN2	uc011avb.2,p.H848L|ENST00000404922,p.H895L|ENST00000535798,p.H874L|ENST00000295760,p.H848L|NM_001004019,p.H895L|NM_001998,p.H848L|NM_001165035,p.H895L|ENST00000492059,p.H895L|uc011ava.2,p.H895L|uc011auz.2,p.H874L|uc011avc.2,p.H895L	retained_intron, protein_coding	uc011avc.2	nonsynonymous SNV	exon12	c.A2684T	p.H895L	CQRNPLICARGYHASDDGTKCVDVN	CQRNPLICARGYLASDDGTKCVDVN	10.0	5.0	unscreened	-	4037_3:13670519-13670519 A>T_CQRNPLICARGYLASDDGTKCVDVN
20:33329003-33329003 T>C	1.0	4037	LUNG	-	-	-	-	NCOA6	ENST00000359003,p.N1686S|uc021wce.1,p.N1686S|uc002xav.3,p.N1686S|NM_014071,p.N1686S|ENST00000374796,p.N1686S|uc002xaw.3,p.N1686S	retained_intron, protein_coding, processed_transcript	uc021wce.1	nonsynonymous SNV	exon9	c.A5057G	p.N1686S	QPSTIPAAPLTTNSGLMPPSVAVVG	QPSTIPAAPLTTSSGLMPPSVAVVG	8.0	2.0	unscreened	-	4037_20:33329003-33329003 T>C_QPSTIPAAPLTTSSGLMPPSVAVVG
8:145533488-145533488 A>T	1.0	4037	LUNG	-	-	-	-	HSF1	NM_005526,p.I132F|ENST00000528838,p.I132F|ENST00000400780,p.I67F|uc003zbt.4,p.I132F|ENST00000533240,p.I67F	retained_intron, protein_coding, processed_transcript	uc003zbt.4	nonsynonymous SNV	exon4	c.A394T	p.I132F	TSVSTLKSEDIKIRQDSVTKLLTDV	TSVSTLKSEDIKFRQDSVTKLLTDV	10.0	9.0	unscreened	-	4037_8:145533488-145533488 A>T_TSVSTLKSEDIKFRQDSVTKLLTDV
12:120576155-120576155 C>G	1.0	4037	LUNG	-	-	-	-	GCN1L1	NM_006836,p.R2074P|uc001txo.3,p.R2074P|ENST00000300648,p.R2074P	retained_intron, protein_coding	uc001txo.3	nonsynonymous SNV	exon47	c.G6221C	p.R2074P	LDGLKQVMAIKSRVVLPYLVPKLTT	LDGLKQVMAIKSPVVLPYLVPKLTT	7.0	10.0	-	-	4037_12:120576155-120576155 C>G_LDGLKQVMAIKSPVVLPYLVPKLTT
6:30652906-30652906 T>A	1.0	4037	LUNG	-	-	-	-	PPP1R18	ENST00000399199,p.E297V|uc003nra.3,p.E297V|NM_001134870,p.E297V|ENST00000274853,p.E297V|NM_133471,p.E297V|uc003nrb.4,p.E297V	protein_coding, processed_transcript	uc003nrb.4	nonsynonymous SNV	exon1	c.A890T	p.E297V	PGVAPKETAELSETLTREAQGNSSA	PGVAPKETAELSVTLTREAQGNSSA	9.0	5.0	unscreened	-	4037_6:30652906-30652906 T>A_PGVAPKETAELSVTLTREAQGNSSA
2:33623556-33623556 T>G	1.0	4037	LUNG	-	-	-	-	LTBP1	ENST00000418533,p.Y1336D|ENST00000402934,p.Y1323D|ENST00000272273,p.Y602D|uc010yna.2,p.Y1283D|uc010ymz.2,p.Y1336D|uc021vft.1,p.Y1704D|uc002rov.3,p.Y1325D|NM_001166265,p.Y1325D|NM_000627,p.Y1378D|ENST00000404525,p.Y1325D|ENST00000354476,p.Y1705D|NM_001166266,p.Y1283D|ENST00000404816,p.Y1704D|ENST00000390003,p.Y1379D|NM_206943,p.Y1704D|NM_001166264,p.Y1336D|ENST00000407925,p.Y1378D|uc010ynb.2,p.Y602D|uc002rou.3,p.Y1378D	protein_coding, processed_transcript	uc021vft.1	nonsynonymous SNV	exon34	c.T5110G	p.Y1704D	CLPGYVPSDKPNYCTPLNTALNLEK	CLPGYVPSDKPNDCTPLNTALNLEK	9.0	5.0	unscreened	-	4037_2:33623556-33623556 T>G_CLPGYVPSDKPNDCTPLNTALNLEK
16:87453389-87453389 T>G	1.0	4037	LUNG	-	-	-	-	ZCCHC14	NM_015144,p.S212R|ENST00000268616,p.S212R|ENST00000568020,p.S212R|uc002fjz.1,p.S212R	retained_intron, protein_coding, nonsense_mediated_decay	uc002fjz.1	nonsynonymous SNV	exon6	c.A634C	p.S212R	STSSPPQQLQSPSPGNPSLSKVGTV	STSSPPQQLQSPRPGNPSLSKVGTV	8.0	7.0	unscreened	-	4037_16:87453389-87453389 T>G_STSSPPQQLQSPRPGNPSLSKVGTV
1:155029681-155029681 A>C	1.0	4037	LUNG	-	-	-	-	ADAM15	ENST00000368410,p.N95T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000368410	nonsynonymous SNV	exon5	c.A284C	p.N95T	ELLQNRSFLPGLNFSNCSRRALEKA	ELLQNRSFLPGLTFSNCSRRALEKA	10.0	2.0	unscreened	-	4037_1:155029681-155029681 A>C_ELLQNRSFLPGLTFSNCSRRALEKA
11:66243421-66243421 T>C	1.0	4037	LUNG	-	-	-	-	PELI3	ENST00000349459,p.L374P|NM_001243135,p.L335P|NM_001098510,p.L374P|uc001oic.4,p.L398P|NM_145065,p.L398P|uc001oid.4,p.L374P|ENST00000320740,p.L398P|uc021qly.1,p.L291P|NM_001243136,p.L291P	protein_coding, processed_transcript, nonsense_mediated_decay	uc021qly.1	nonsynonymous SNV	exon6	c.T872C	p.L291P	LCRLVGPYVPLWLGQEAGLCLDPGP	LCRLVGPYVPLWPGQEAGLCLDPGP	7.0	3.0	unscreened	-	4037_11:66243421-66243421 T>C_LCRLVGPYVPLWPGQEAGLCLDPGP
20:16478293-16478293 T>G	1.0	4037	LUNG	-	-	-	-	KIF16B	NM_001199866,p.S403R|uc002wpg.2,p.S403R|NM_001199865,p.S403R|ENST00000408042,p.S403R|ENST00000355755,p.S403R|uc010gcj.2,p.S403R|NM_024704,p.S403R|uc010gch.2,p.S403R|uc010gci.2,p.S403R|ENST00000354981,p.S403R	protein_coding	uc010gcj.2	nonsynonymous SNV	exon11	c.A1207C	p.S403R	NQIALLDSPTALSMEEKLQQNEARV	NQIALLDSPTALRMEEKLQQNEARV	6.0	7.0	unscreened	-	4037_20:16478293-16478293 T>G_NQIALLDSPTALRMEEKLQQNEARV
13:24868951-24868951 A>G	1.0	4037	LUNG	-	-	-	-	SPATA13	uc010tcy.1,p.K373R|ENST00000424834,p.K1052R|NM_001286795,p.K349R|ENST00000434675,p.K325R|NM_153023,p.K427R|ENST00000382141,p.K930R|uc001upd.3,p.K1114R|ENST00000343003,p.K371R|uc001uph.3,p.K349R|uc010tda.2,p.K371R|ENST00000409126,p.K287R|NM_001286794,p.K371R|NM_001286792,p.K1114R|ENST00000382108,p.K1052R|uc001upg.2,p.K427R|NM_001166271,p.K1052R|uc021rhg.1,p.K1052R|ENST00000399949,p.K349R|NM_001286793,p.K287R|uc010tdb.2,p.K287R|ENST00000382095,p.K427R|uc010tcz.2,p.K311R	protein_coding, processed_transcript, nonsense_mediated_decay	uc021rhg.1	nonsynonymous SNV	exon10	c.A3155G	p.K1052R	KNVACLINERKRKLESIDKIARWQV	KNVACLINERKRRLESIDKIARWQV	7.0	1.0	unscreened	-	4037_13:24868951-24868951 A>G_KNVACLINERKRRLESIDKIARWQV
6:26197351-26197351 C>A	1.0	4037	LUNG	-	-	-	-	HIST1H3D	NM_003530,p.R43L|uc021ymt.1,p.R43L|ENST00000377831,p.R43L|ENST00000356476,p.R43L|uc003ngv.4,p.R43L	protein_coding	uc021ymt.1	nonsynonymous SNV	exon1	c.G128T	p.R43L	PATGGVKKPHRYRPGTVALREIRRY	PATGGVKKPHRYLPGTVALREIRRY	7.0	5.0	unscreened	-	4037_6:26197351-26197351 C>A_PATGGVKKPHRYLPGTVALREIRRY
1:52226435-52226435 A>G	1.0	4037	LUNG	-	-	-	-	OSBPL9	ENST00000371714,p.Q206R|NM_148908,p.Q206R|ENST00000486942,p.Q41R|ENST00000527631,p.Q54R|uc001csw.3,p.Q206R|NM_148904,p.Q41R|NM_148907,p.Q109R|uc001csy.3,p.Q41R|ENST00000531828,p.Q54R|ENST00000462759,p.Q41R|uc001csv.3,p.Q54R|NM_024586,p.Q219R|NM_148905,p.Q41R|ENST00000361556,p.Q109R|ENST00000428468,p.Q219R|ENST00000371710,p.Q237R|uc001css.4,p.Q206R|ENST00000435686,p.Q54R|uc009vza.3,p.Q202R|uc001cta.3,p.Q109R|uc001csu.3,p.Q229R|ENST00000337809,p.Q224R|uc001csz.3,p.Q41R|uc001cst.4,p.Q219R|NM_148909,p.Q229R|ENST00000532975,p.Q41R|ENST00000530544,p.Q138R|ENST00000447887,p.Q229R|NM_148906,p.Q202R|ENST00000453295,p.Q202R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009vza.3	nonsynonymous SNV	exon9	c.A605G	p.Q202R	SPLEPVISTMPSQTVLPPEPVQLCK	SPLEPVISTMPSRTVLPPEPVQLCK	8.0	3.0	unscreened	-	4037_1:52226435-52226435 A>G_SPLEPVISTMPSRTVLPPEPVQLCK
16:31766825-31766825 T>A	1.0	4037	LUNG	-	-	-	-	ZNF720	ENST00000399681,p.S405T|uc010vfs.2,p.S405T|uc002ecq.3,p.S473T	protein_coding, processed_transcript, nonsense_mediated_decay	uc010vfs.2	nonsynonymous SNV	exon6	c.T1213A	p.S405T	KCKACSKSFSHSSCLSVHQITHTGM	KCKACSKSFSHSTCLSVHQITHTGM	6.0	2.0	unscreened	-	4037_16:31766825-31766825 T>A_KCKACSKSFSHSTCLSVHQITHTGM
7:5262276-5262276 T>C	1.0	4037	LUNG	-	-	-	-	WIPI2	uc003sny.3,p.L220P|NM_001033520,p.L179P|NM_016003,p.L220P|uc003soa.3,p.L179P|ENST00000288828,p.L238P|uc010ksv.3,p.L94P|NM_015610,p.L238P|ENST00000401525,p.L220P|NM_001033518,p.L238P|uc003snv.3,p.L238P|uc003snx.3,p.L220P|ENST00000484262,p.L179P|NM_001278299,p.L94P|ENST00000404704,p.L238P|NM_001033519,p.L220P|uc003snw.3,p.L238P|ENST00000382384,p.L220P	retained_intron, protein_coding, processed_transcript	uc010ksv.3	nonsynonymous SNV	exon8	c.T281C	p.L94P	VIRVFSIPEGQKLFEFRRGVKRCVS	VIRVFSIPEGQKPFEFRRGVKRCVS	9.0	2.0	unscreened	-	4037_7:5262276-5262276 T>C_VIRVFSIPEGQKPFEFRRGVKRCVS
17:61908549-61908549 A>C	1.0	4037	LUNG	-	-	-	-	PSMC5	uc002jcd.3,p.N270T|ENST00000310144,p.N278T|ENST00000580864,p.N270T|NM_001199163,p.N270T|ENST00000375812,p.N270T|ENST00000581882,p.N270T|uc010ddy.3,p.N255T|NM_002805,p.N278T|uc002jcb.3,p.N278T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ddy.3	nonsynonymous SNV	exon7	c.A764C	p.N255T	DSEVQRTMLELLNQLDGFEATKNIK	DSEVQRTMLELLTQLDGFEATKNIK	10.0	6.0	unscreened	-	4037_17:61908549-61908549 A>C_DSEVQRTMLELLTQLDGFEATKNIK
12:56566437-56566438 TC>-	1.0	4037	LUNG	-	-	-	-	SMARCC2	uc001ska.3,p.E598fs|uc001skd.3,p.E598fs|uc010sqf.2,p.E487fs|ENST00000394023,p.E598fs|ENST00000550164,p.E598fs|ENST00000347471,p.E598fs|uc001skc.3,p.E597fs|ENST00000267064,p.E567fs|NM_001130420,p.E598fs|NM_139067,p.E598fs|NM_003075,p.E567fs|uc001skb.3,p.E567fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sqf.2	frameshift deletion	exon19	c.1461_1462del	p.E487fs	SQQMLNFPDKGKEKPTDMQNFGLRT	SQQMLNFPDKGKETNRHAKLWAAHRHVHKKECSLQEQGCSQCHS	8.0	10.0	unscreened	-	4037_12:56566437-56566438 TC>-_SQQMLNFPDKGKETNRHAKLWAAHRHVHKKECSLQEQGCSQCHS
11:120310865-120310865 T>G	1.0	4037	LUNG	-	-	-	1	ARHGEF12	uc021qrm.1,p.S324A|NM_001198665,p.S324A|ENST00000397843,p.S343A|NM_015313,p.S343A|ENST00000532993,p.S240A|ENST00000356641,p.S324A|uc009zat.3,p.S324A|uc009zau.1,p.S240A|uc010rzn.1,p.S240A|NM_001301084,p.S240A|uc001pxl.2,p.S343A	retained_intron, protein_coding	uc021qrm.1	nonsynonymous SNV	exon12	c.T970G	p.S324A	QDTDTQSLVGSPSTRIAPHIIGAED	QDTDTQSLVGSPATRIAPHIIGAED	9.0	9.0	unscreened	-	4037_11:120310865-120310865 T>G_QDTDTQSLVGSPATRIAPHIIGAED
14:103438408-103438408 A>G	1.0	4037	LUNG	-	-	-	-	CDC42BPB	ENST00000361246,p.S578P|NM_006035,p.S578P|uc001ymi.1,p.S578P	retained_intron, protein_coding	uc001ymi.1	nonsynonymous SNV	exon13	c.T1732C	p.S578P	AHQQRKLALQEFSELNERMAELRAQ	AHQQRKLALQEFPELNERMAELRAQ	10.0	2.0	unscreened	-	4037_14:103438408-103438408 A>G_AHQQRKLALQEFPELNERMAELRAQ
2:219526167-219526167 A>T	1.0	4037	LUNG	-	-	-	-	BCS1L	uc021vwz.1,p.E120V|ENST00000392111,p.E120V|ENST00000359273,p.E120V|ENST00000430322,p.E120V|uc002viq.3,p.E120V|uc002vip.3,p.E120V|uc010fvu.3,p.E120V|NM_001257343,p.E120V|NM_001257344,p.E120V|ENST00000456050,p.E120V|uc002vis.4,p.E120V|uc010fvv.3,p.E120V|NM_001257342,p.E120V|ENST00000439945,p.E120V|ENST00000431802,p.E120V|ENST00000392110,p.E120V|NM_001079866,p.E120V|ENST00000392109,p.E120V|NM_004328,p.E120V|ENST00000412366,p.E120V	retained_intron, protein_coding, processed_transcript	uc021vwz.1	nonsynonymous SNV	exon3	c.A359T	p.E120V	YRGKWIRVERSREMQMIDLQTGTPW	YRGKWIRVERSRVMQMIDLQTGTPW	9.0	5.0	unscreened	-	4037_2:219526167-219526167 A>T_YRGKWIRVERSRVMQMIDLQTGTPW
1:54303892-54303892 C>G	1.0	4037	LUNG	-	-	-	-	NDC1	ENST00000540001,p.D15H|uc010onu.2,p.D15H|ENST00000371429,p.D15H|NM_018087,p.D15H|uc001cvs.3,p.D15H|NM_001168551,p.D15H	protein_coding, processed_transcript	uc010onu.2	nonsynonymous SNV	exon1	c.G43C	p.D15H	TAVSRPCAGRSRDILWRVLGWRIVA	TAVSRPCAGRSRHILWRVLGWRIVA	7.0	10.0	unscreened	-	4037_1:54303892-54303892 C>G_TAVSRPCAGRSRHILWRVLGWRIVA
1:119619072-119619072 T>G	1.0	4037	LUNG	-	-	-	-	WARS2	uc001ehm.3,p.Q83H|ENST00000235521,p.Q83H|uc010oxh.2,p.Q83H|uc001ehn.3,p.Q83H|NM_015836,p.Q83H|NM_201263,p.Q83H|ENST00000369426,p.Q83H	protein_coding, processed_transcript	uc010oxh.2	nonsynonymous SNV	exon2	c.A249C	p.Q83H	YSIVDLHSITVPQDPAVLRQSILDM	YSIVDLHSITVPHDPAVLRQSILDM	9.0	2.0	unscreened	-	4037_1:119619072-119619072 T>G_YSIVDLHSITVPHDPAVLRQSILDM
5:35068969-35068969 T>C	1.0	4037	LUNG	-	-	-	-	PRLR	uc003jjg.2,p.N233D|ENST00000382002,p.N233D|NM_001204314,p.N132D|uc003jjl.4,p.N132D|ENST00000513753,p.N233D|ENST00000342362,p.N132D|ENST00000310101,p.N233D|NM_001204316,p.N233D|uc003jjh.2,p.N233D|ENST00000542609,p.N233D|ENST00000511486,p.N132D|NM_000949,p.N233D|uc003jjm.3,p.N233D|NM_001204315,p.N233D|uc003jji.2,p.N162D|uc021xxl.1,p.N233D|ENST00000231423,p.N233D|NM_001204317,p.N233D	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xxl.1	nonsynonymous SNV	exon7	c.A697G	p.N233D	ATFIQIPSDFTMNDTTVWISVAVLS	ATFIQIPSDFTMDDTTVWISVAVLS	7.0	9.0	unscreened	-	4037_5:35068969-35068969 T>C_ATFIQIPSDFTMDDTTVWISVAVLS
16:28989353-28989353 C>G	0.0	4037	LUNG	-	-	-	-	SPNS1	uc002drx.2,p.F71L|NM_032038,p.F144L|NM_001142449,p.F122L|ENST00000567771,p.F144L|uc002dsa.2,p.F144L|ENST00000323081,p.F71L|uc010byp.2,p.F122L|NM_001142451,p.F144L|ENST00000566059,p.F133L|ENST00000334536,p.F144L|uc002drz.2,p.F144L|ENST00000568388,p.F71L|ENST00000311008,p.F144L|NM_001142450,p.F71L|ENST00000565975,p.F189L|uc010vdi.1,p.F144L|uc002dry.2,p.F144L|NM_001142448,p.F144L|ENST00000352260,p.F122L	retained_intron, protein_coding, processed_transcript	uc010vdi.1	nonsynonymous SNV	exon4	c.C432G	p.F144L	IAFWSLVTLGSSFIPGEHFWLLLLT	IAFWSLVTLGSSLIPGEHFWLLLLT	8.0	1.0	unscreened	-	4037_16:28989353-28989353 C>G_IAFWSLVTLGSSLIPGEHFWLLLLT
7:150934838-150934838 C>T	1.0	4037	LUNG	-	-	-	-	CHPF2	NM_001284295,p.R456C|ENST00000035307,p.R464C|ENST00000495645,p.R456C|uc003wjq.1,p.R456C|NM_019015,p.R464C|uc003wjr.1,p.R464C	protein_coding, nonsense_mediated_decay	uc003wjr.1	nonsynonymous SNV	exon4	c.C1390T	p.R464C	CVTQRGHRRALARRVSLLRPLSRVE	CVTQRGHRRALACRVSLLRPLSRVE	8.0	3.0	unscreened	-	4037_7:150934838-150934838 C>T_CVTQRGHRRALACRVSLLRPLSRVE
15:62209586-62209586 A>G	0.0	4037	LUNG	-	-	-	-	VPS13C	ENST00000261517,p.L2670P|NM_020821,p.L2670P|ENST00000395896,p.L2670P|ENST00000249837,p.L2627P|uc002ahd.1,p.L47P|uc002ahc.2,p.L2627P|uc002aha.3,p.L2627P|NM_001018088,p.L2670P|NM_018080,p.L2627P|uc002agz.3,p.L2670P|uc002ahb.2,p.L2670P|NM_017684,p.L2627P|ENST00000395898,p.L2627P	retained_intron, protein_coding, processed_transcript	uc002ahd.1	nonsynonymous SNV	exon1	c.T140C	p.L47P	WDVAYIIHLYPSLTLRNLLPYSLRY	WDVAYIIHLYPSPTLRNLLPYSLRY	6.0	8.0	unscreened	-	4037_15:62209586-62209586 A>G_WDVAYIIHLYPSPTLRNLLPYSLRY
9:35059661-35059661 C>T	1.0	4037	LUNG	-	-	-	-	VCP	ENST00000358901,p.M611I|NM_007126,p.M611I|uc003zvy.2,p.M611I|uc010mkh.1,p.M280I|uc010mki.1,p.M566I	retained_intron, protein_coding	uc010mki.1	nonsynonymous SNV	exon14	c.G1698A	p.M566I	RVINQILTEMDGMSTKKNVFIIGAT	RVINQILTEMDGISTKKNVFIIGAT	10.0	8.0	unscreened	-	4037_9:35059661-35059661 C>T_RVINQILTEMDGISTKKNVFIIGAT
19:11015631-11015631 A>C	1.0	4037	LUNG	-	-	-	-	CARM1	ENST00000590699,p.E75D|uc002mpz.3,p.E75D|ENST00000344150,p.E75D|NM_199141,p.E75D|ENST00000327064,p.E75D|ENST00000590039,p.E25D	retained_intron, protein_coding, nonsense_mediated_decay	uc002mpz.3	nonsynonymous SNV	exon2	c.A225C	p.E75D	GPDSAGIALYSHEDVCVFKCSVSRE	GPDSAGIALYSHDDVCVFKCSVSRE	9.0	7.0	unscreened	-	4037_19:11015631-11015631 A>C_GPDSAGIALYSHDDVCVFKCSVSRE
20:61512329-61512329 A>G	1.0	4037	LUNG	-	-	-	-	DIDO1	ENST00000266070,p.L1660P|NM_033081,p.L1660P|uc002ydr.2,p.L1660P|NM_001193369,p.L1660P|ENST00000395343,p.L1660P|uc002yds.2,p.L1660P	protein_coding	uc002yds.2	nonsynonymous SNV	exon16	c.T4979C	p.L1660P	GDSSARPARRVLLPTPPCGALQPGF	GDSSARPARRVLPPTPPCGALQPGF	9.0	6.0	unscreened	-	4037_20:61512329-61512329 A>G_GDSSARPARRVLPPTPPCGALQPGF
1:145368604-145368604 T>G	1.0	4037	LUNG	-	rs1043758	-	-	NBPF9	ENST00000342960,p.Y3528D|ENST00000369338,p.Y644D|uc010oyj.3,p.Y244D|uc010oyl.3,p.Y244D|uc010oyi.3,p.Y456D|uc021oul.2,p.Y3528D|uc010oye.3,p.Y887D|ENST00000369339,p.Y646D	protein_coding, processed_transcript	uc021oul.2	nonsynonymous SNV	exon84	c.T10582G	p.Y3528D	YSFEEQHISFALYVDNRFFTLTVTS	YSFEEQHISFALDVDNRFFTLTVTS	9.0	1.0	unscreened	-	4037_1:145368604-145368604 T>G_YSFEEQHISFALDVDNRFFTLTVTS
6:18258246-18258246 T>G	1.0	4037	LUNG	-	-	-	1	DEK	ENST00000505224,p.S71R	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000505224	nonsynonymous SNV	exon4	c.A211C	p.S71R	EKKKVERIHFFLSKKKTDELRNLHK	EKKKVERIHFFLRKKKTDELRNLHK	9.0	9.0	unscreened	-	4037_6:18258246-18258246 T>G_EKKKVERIHFFLRKKKTDELRNLHK
6:18258246-18258246 T>G	1.0	4037	LUNG	-	-	-	1	DEK	ENST00000503715,p.S32R|NM_001134709,p.S65R|ENST00000397239,p.S99R|ENST00000244776,p.S65R|NM_003472,p.S99R|uc003ncr.1,p.S99R|ENST00000515742,p.S104R|uc011djf.1,p.S65R	retained_intron, protein_coding, nonsense_mediated_decay	uc011djf.1	nonsynonymous SNV	exon3	c.A193C	p.S65R	KLCEIERIHFFLSKKKTDELRNLHK	KLCEIERIHFFLRKKKTDELRNLHK	9.0	9.0	unscreened	-	4037_6:18258246-18258246 T>G_KLCEIERIHFFLRKKKTDELRNLHK
1:110765600-110765601 CT>-	1.0	4037	LUNG	-	-	-	-	KCNC4	NM_001039574,p.A231fs|uc001dzf.3,p.A231fs|ENST00000413138,p.A231fs|uc009wfr.3,p.A231fs|ENST00000469655,p.A231fs|NM_004978,p.A231fs|ENST00000438661,p.A231fs|ENST00000369787,p.A231fs|uc001dzg.3,p.A231fs|uc001dzh.3,p.A231fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009wfr.3	frameshift deletion	exon2	c.693_694del	p.A231fs	PYSSRAARVVAFASLFFILVSITTF	PYSSRAARVVAFASLLHPGLHHHFLPGDP	5.0	8.0	unscreened	-	4037_1:110765600-110765601 CT>-_PYSSRAARVVAFASLLHPGLHHHFLPGDP
15:25966956-25966957 TC>-	1.0	4037	LUNG	-	-	-	-	ATP10A	ENST00000356865,p.D404fs|ENST00000555815,p.D404fs|NM_024490,p.D404fs|uc010ayu.3,p.D404fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ayu.3	frameshift deletion	exon7	c.1210_1211del	p.D404fs	INQDMQLYDEETDSQLQCRALNITE	INQDMQLYDEETLAAAVPSSEHHGRLRTDTVHFLR	6.0	10.0	unscreened	-	4037_15:25966956-25966957 TC>-_INQDMQLYDEETLAAAVPSSEHHGRLRTDTVHFLR
2:238253048-238253048 A>G	1.0	4037	LUNG	-	-	-	-	COL6A3	NM_057166,p.I1931T|NM_004369,p.I2538T|ENST00000409809,p.I2332T|uc002vwo.2,p.I2332T|NM_057167,p.I2332T|ENST00000347401,p.I2337T|ENST00000353578,p.I2332T|uc002vwl.2,p.I2538T|ENST00000472056,p.I1931T|ENST00000346358,p.I2338T|ENST00000295550,p.I2538T|uc010znj.1,p.I1931T|uc002vwp.1,p.I359T	retained_intron, protein_coding, processed_transcript	uc010znj.1	nonsynonymous SNV	exon33	c.T5792C	p.I1931T	LREAVLKLSDAGITPLFLTRQEDRQ	LREAVLKLSDAGTTPLFLTRQEDRQ	10.0	5.0	unscreened	-	4037_2:238253048-238253048 A>G_LREAVLKLSDAGTTPLFLTRQEDRQ
8:144892650-144892650 T>G	1.0	4037	LUNG	-	-	-	-	SCRIB	NM_015356,p.E510A|uc003yzo.1,p.E510A|NM_182706,p.E510A|ENST00000320476,p.E510A|ENST00000377533,p.E429A|uc003yzp.1,p.E510A|ENST00000356994,p.E510A	retained_intron, protein_coding, processed_transcript	uc003yzp.1	nonsynonymous SNV	exon13	c.A1529C	p.E510A	CQPDSGSPLPAEEEKRLSAESGLSE	CQPDSGSPLPAEAEKRLSAESGLSE	10.0	5.0	unscreened	-	4037_8:144892650-144892650 T>G_CQPDSGSPLPAEAEKRLSAESGLSE
1:205632081-205632081 A>G	1.0	4037	LUNG	-	-	-	1	SLC45A3	uc010pro.1,p.C114R|uc001hda.1,p.C280R|NM_033102,p.C280R|ENST00000367145,p.C280R	protein_coding, processed_transcript	uc010pro.1	nonsynonymous SNV	exon1	c.T340C	p.C114R	PRTLRRLFVAELCSWMALMTFTLFY	PRTLRRLFVAELRSWMALMTFTLFY	5.0	9.0	unscreened	-	4037_1:205632081-205632081 A>G_PRTLRRLFVAELRSWMALMTFTLFY
17:46940212-46940212 A>G	1.0	4037	LUNG	-	-	-	-	CALCOCO2	NM_001261395,p.K324E|ENST00000509507,p.K417E|uc010wlq.3,p.K324E|uc002iof.4,p.K396E|NM_001261393,p.K354E|NM_001261391,p.K417E|ENST00000448105,p.K420E|ENST00000258947,p.K396E|ENST00000416445,p.K354E|uc010wls.3,p.K354E|NM_005831,p.K396E|NM_001261390,p.K420E|uc010wlr.3,p.K420E|ENST00000508679,p.K324E|uc010wlp.3,p.K417E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wls.3	nonsynonymous SNV	exon12	c.A1060G	p.K354E	QESSSPSPLSIKKCPICKADDICDH	QESSSPSPLSIKECPICKADDICDH	8.0	10.0	-	-	4037_17:46940212-46940212 A>G_QESSSPSPLSIKECPICKADDICDH
2:8871671-8871671 T>C	1.0	4037	LUNG	-	-	-	-	KIDINS220	ENST00000473731,p.R1480G|uc002qzd.2,p.R1400G|NM_020738,p.R1499G|uc002qzb.2,p.R353G|ENST00000256707,p.R1499G|uc002qzc.2,p.R1499G|ENST00000427284,p.R1480G|ENST00000418530,p.R1400G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002qzd.2	nonsynonymous SNV	exon29	c.A4198G	p.R1400G	GSKLLPGKKSSERSSLFQTDLKLKG	GSKLLPGKKSSEGSSLFQTDLKLKG	8.0	3.0	unscreened	-	4037_2:8871671-8871671 T>C_GSKLLPGKKSSEGSSLFQTDLKLKG
2:98413934-98413935 GA>-	1.0	4037	LUNG	-	-	-	-	TMEM131	NM_015348,p.S921fs|ENST00000186436,p.S921fs|uc002syh.4,p.S921fs	retained_intron, protein_coding, nonsense_mediated_decay	uc002syh.4	frameshift deletion	exon26	c.2763_2764del	p.S921fs	PLQSSTGFMEGLSRHLILNLILKPG	PLQSSTGFMEGLSTFNFKPNFKTWRKEICQSKVYSSSQQNCFFTYHSQK	7.0	9.0	unscreened	-	4037_2:98413934-98413935 GA>-_PLQSSTGFMEGLSTFNFKPNFKTWRKEICQSKVYSSSQQNCFFTYHSQK
3:135870091-135870091 ->C	1.0	4037	LUNG	-	-	-	-	MSL2	NM_001145417,p.S470fs|uc003eqx.1,p.S544fs|ENST00000434835,p.S470fs|ENST00000309993,p.S544fs|NM_018133,p.S544fs|uc011bmb.1,p.S470fs|uc021xel.1,p.S470fs	protein_coding	uc021xel.1	frameshift insertion	exon1	c.1409dupG	p.S470fs	TSIAVRNASTSTSVINVTGSPVTTF	TSIAVRNASTSTRCNKCHRVPSNDVFSCQYT	9.0	9.0	unscreened	-	4037_3:135870091-135870091 ->C_TSIAVRNASTSTRCNKCHRVPSNDVFSCQYT
1:10197188-10197188 A>G	1.0	4037	LUNG	-	-	-	-	UBE4B	NM_001105562,p.H763R|uc021ogc.1,p.H814R|uc001aqr.4,p.H634R|ENST00000253251,p.H634R|ENST00000377157,p.H518R|uc001aqs.4,p.H763R|ENST00000343090,p.H763R|uc010oaj.2,p.H218R|NM_006048,p.H634R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ogc.1	nonsynonymous SNV	exon18	c.A2441G	p.H814R	PKFPTECFFLTLHAHHLSILPSCRR	PKFPTECFFLTLRAHHLSILPSCRR	6.0	10.0	unscreened	-	4037_1:10197188-10197188 A>G_PKFPTECFFLTLRAHHLSILPSCRR
1:90399181-90399181 A>C	1.0	4037	LUNG	-	-	-	-	LRRC8D	ENST00000337338,p.K185T|uc021opq.1,p.K185T|NM_018103,p.K185T|ENST00000441269,p.K185T|ENST00000394593,p.K185T|uc001dnm.3,p.K185T|uc001dnn.3,p.K185T|NM_001134479,p.K185T	protein_coding	uc021opq.1	nonsynonymous SNV	exon1	c.A554C	p.K185T	TIILMVSSNFWFKYPKTCSKVEHFV	TIILMVSSNFWFTYPKTCSKVEHFV	8.0	2.0	unscreened	-	4037_1:90399181-90399181 A>C_TIILMVSSNFWFTYPKTCSKVEHFV
1:111491002-111491002 C>G	1.0	4037	LUNG	-	-	-	-	LRIF1	NM_018372,p.R630T|uc001eab.3,p.R94T|uc001dzz.3,p.R94T|ENST00000485275,p.R94T|NM_001006945,p.R94T|ENST00000494675,p.R94T|ENST00000369763,p.R630T|uc001eaa.3,p.R630T	protein_coding	uc001eab.3	nonsynonymous SNV	exon3	c.G281C	p.R94T	EGERKQQNFDKKRKAKTNKKMDHIK	EGERKQQNFDKKTKAKTNKKMDHIK	7.0	10.0	-	-	4037_1:111491002-111491002 C>G_EGERKQQNFDKKTKAKTNKKMDHIK
9:34614756-34614756 T>C	1.0	4037	LUNG	-	-	-	-	DCTN3	uc003zuw.1,p.E121G|NM_001281426,p.E121G|ENST00000341694,p.E121G|ENST00000477738,p.E121G|NM_007234,p.E121G|ENST00000259632,p.E121G|ENST00000378913,p.E121G|NM_001281427,p.E121G|NM_024348,p.E121G|uc003zux.1,p.E121G	protein_coding, processed_transcript, nonsense_mediated_decay	uc003zux.1	nonsynonymous SNV	exon5	c.A362G	p.E121G	PMLDSAHIKAVPEHAARLQRLAQIH	PMLDSAHIKAVPGHAARLQRLAQIH	10.0	1.0	unscreened	-	4037_9:34614756-34614756 T>C_PMLDSAHIKAVPGHAARLQRLAQIH
2:64796776-64796778 AGC>-	1.0	4037	LUNG	-	-	-	-	AFTPH	ENST00000238856,p.745_746del|NM_203437,p.745_746del|uc002sdc.3,p.745_746del|ENST00000409183,p.376_377del|NM_001002243,p.745_746del|uc002scz.3,p.745_746del|ENST00000409933,p.745_746del|ENST00000238855,p.745_746del|NM_017657,p.745_746del|uc002sdb.3,p.745_746del|uc002sda.3,p.745_746del|ENST00000422803,p.745_746del	retained_intron, protein_coding, processed_transcript	uc002sdc.3	nonframeshift deletion	exon4	c.2234_2236del	p.745_746del	IDTRNILFTGNKKQPVIVPMYAAGL	IDTRNILFTGNKKPVIVPMYAAGLG	8.0	10.0	-	-	4037_2:64796776-64796778 AGC>-_IDTRNILFTGNKKPVIVPMYAAGLG
19:50335221-50335221 A>C	1.0	4037	LUNG	-	-	-	-	MED25	uc002ppw.2,p.N420T|NM_030973,p.N420T|uc010ybe.2,p.N207T|ENST00000538643,p.N207T|ENST00000312865,p.N420T|uc002ppx.1,p.N201T	retained_intron, protein_coding	uc010ybe.2	nonsynonymous SNV	exon6	c.A620C	p.N207T	WQEKPKPASVDANTKLTRSLPCQVY	WQEKPKPASVDATTKLTRSLPCQVY	9.0	7.0	unscreened	-	4037_19:50335221-50335221 A>C_WQEKPKPASVDATTKLTRSLPCQVY
1:19445381-19445381 T>G	1.0	4037	LUNG	-	-	-	-	UBR4	uc001bbi.3,p.N3509T|ENST00000375267,p.N3509T|ENST00000375217,p.N3502T|NM_020765,p.N3509T|ENST00000375226,p.N3485T|ENST00000375254,p.N3509T	protein_coding, processed_transcript	uc001bbi.3	nonsynonymous SNV	exon71	c.A10526C	p.N3509T	LRTQNHILTNHPNSNIYNTLSGLVE	LRTQNHILTNHPTSNIYNTLSGLVE	8.0	2.0	unscreened	-	4037_1:19445381-19445381 T>G_LRTQNHILTNHPTSNIYNTLSGLVE
2:38537522-38537522 A>C	1.0	4037	LUNG	-	-	-	-	ATL2	NM_022374,p.L291R|uc010yno.2,p.L120R|uc002rqq.3,p.L291R|NM_001135673,p.L291R|uc002rqs.3,p.L291R|uc002rqr.3,p.L120R|uc010ynn.2,p.L273R|ENST00000406122,p.L120R|ENST00000539122,p.L120R|ENST00000332337,p.L273R|ENST00000452935,p.L273R|ENST00000449130,p.L109R|ENST00000402054,p.L120R|ENST00000419554,p.L291R|ENST00000378954,p.L291R|ENST00000546051,p.L120R|uc010ynm.2,p.L273R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yno.2	nonsynonymous SNV	exon7	c.T359G	p.L120R	NVRKHIHNCFSNLGCFLLPHPGLKV	NVRKHIHNCFSNRGCFLLPHPGLKV	9.0	6.0	unscreened	-	4037_2:38537522-38537522 A>C_NVRKHIHNCFSNRGCFLLPHPGLKV
21:42629193-42629193 T>G	1.0	4037	LUNG	-	-	-	-	BACE2	uc002yyx.3,p.F365V|NM_012105,p.F415V|ENST00000347667,p.F365V|NM_138991,p.F365V|ENST00000330333,p.F415V|uc002yyw.3,p.F415V	retained_intron, protein_coding, processed_transcript	uc002yyx.3	nonsynonymous SNV	exon7	c.T1093G	p.F365V	NALVIGATVMEGFYVIFDRAQKRVG	NALVIGATVMEGVYVIFDRAQKRVG	10.0	1.0	unscreened	-	4037_21:42629193-42629193 T>G_NALVIGATVMEGVYVIFDRAQKRVG
3:99897152-99897152 A>G	1.0	4037	LUNG	-	-	-	-	CMSS1	ENST00000489081,p.R236G|NM_032359,p.R254G|uc021xbt.1,p.R236G|ENST00000478909,p.R210G|NM_001167924,p.R236G|uc003dtl.3,p.R254G|ENST00000421999,p.R254G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xbt.1	nonsynonymous SNV	exon10	c.A706G	p.R236G	QKLRRMMDIPEIRKEVFELLEMGVL	QKLRRMMDIPEIGKEVFELLEMGVL	9.0	1.0	unscreened	-	4037_3:99897152-99897152 A>G_QKLRRMMDIPEIGKEVFELLEMGVL
8:145677882-145677882 T>C	1.0	4037	LUNG	-	-	-	-	CYHR1	ENST00000438911,p.E186G|NM_138496,p.E186G|ENST00000530374,p.E228G|uc003zcv.2,p.E186G|ENST00000526887,p.E135G	retained_intron, protein_coding	uc003zcv.2	nonsynonymous SNV	exon4	c.A557G	p.E186G	PWHGPFHELTVHEAACAHPTKTGSE	PWHGPFHELTVHGAACAHPTKTGSE	10.0	3.0	unscreened	-	4037_8:145677882-145677882 T>C_PWHGPFHELTVHGAACAHPTKTGSE
5:154181849-154181849 T>C	1.0	4037	LUNG	-	-	-	-	LARP1	uc010jie.1,p.S462P|ENST00000518297,p.S667P|ENST00000336314,p.S590P|NM_015315,p.S590P|uc021ygh.2,p.S462P|ENST00000524248,p.S462P|uc003lvo.4,p.S590P|uc021ygi.1,p.S667P	retained_intron, protein_coding, nonsense_mediated_decay	uc021ygi.1	nonsynonymous SNV	exon11	c.T1999C	p.S667P	RHPGGDRTGNHTSRAKMSAELAKVI	RHPGGDRTGNHTPRAKMSAELAKVI	10.0	3.0	unscreened	-	4037_5:154181849-154181849 T>C_RHPGGDRTGNHTPRAKMSAELAKVI
16:111675-111675 G>A	1.0	4037	LUNG	-	-	-	-	RHBDF1	ENST00000262316,p.L410F|uc010uty.2,p.L433F|ENST00000454039,p.L410F|NM_022450,p.L410F|uc002cfl.4,p.L410F|uc010utz.2,p.L410F	retained_intron, protein_coding, nonsense_mediated_decay	uc010utz.2	nonsynonymous SNV	exon9	c.C1228T	p.L410F	DMDDHRPFFTYWLTFVHSLVTILAV	DMDDHRPFFTYWFTFVHSLVTILAV	8.0	9.0	-	-	4037_16:111675-111675 G>A_DMDDHRPFFTYWFTFVHSLVTILAV
2:120831700-120831700 T>C	1.0	4037	LUNG	-	-	-	-	EPB41L5	NM_020909,p.L118P|uc002tmg.3,p.L118P|ENST00000443902,p.L118P|NM_001184939,p.L118P|NM_001184938,p.L118P|NM_001184937,p.L118P|ENST00000443124,p.L118P|ENST00000452780,p.L118P|ENST00000263713,p.L118P|uc010flk.3,p.L118P|ENST00000331393,p.L118P|uc010fll.3,p.L118P|uc002tmh.4,p.L118P	retained_intron, protein_coding, processed_transcript	uc010fll.3	nonsynonymous SNV	exon5	c.T353C	p.L118P	KQVKIGSPYCLHLRVKFYSSEPNNL	KQVKIGSPYCLHPRVKFYSSEPNNL	8.0	7.0	-	-	4037_2:120831700-120831700 T>C_KQVKIGSPYCLHPRVKFYSSEPNNL
16:72046145-72046145 A>G	1.0	4037	LUNG	-	-	-	-	DHODH	uc002fbp.3,p.Q73R|ENST00000572887,p.Q73R|NM_001361,p.Q73R|ENST00000576145,p.Q45R|ENST00000219240,p.Q73R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002fbp.3	nonsynonymous SNV	exon2	c.A218G	p.Q73R	FTSLGLLPRARFQDSDMLEVRVLGH	FTSLGLLPRARFRDSDMLEVRVLGH	6.0	9.0	unscreened	-	4037_16:72046145-72046145 A>G_FTSLGLLPRARFRDSDMLEVRVLGH
3:127387312-127387312 A>C	1.0	4037	LUNG	-	-	-	-	PODXL2	NM_015720,p.Q412P|uc003ejq.3,p.Q412P|ENST00000342480,p.Q412P	protein_coding	uc003ejq.3	nonsynonymous SNV	exon5	c.A1235C	p.Q412P	IDCEVFRQHRGPQLLALVEEVLPRH	IDCEVFRQHRGPPLLALVEEVLPRH	10.0	1.0	unscreened	-	4037_3:127387312-127387312 A>C_IDCEVFRQHRGPPLLALVEEVLPRH
15:59368300-59368300 A>C	1.0	4037	LUNG	-	-	-	-	RNF111	uc002aft.4,p.S612R|uc002afw.4,p.S612R|uc002afu.4,p.S611R|ENST00000434298,p.S612R|NM_001270528,p.S612R|NM_001270529,p.S611R|ENST00000559209,p.S612R|uc002afs.4,p.S612R|NM_017610,p.S612R|ENST00000348370,p.S612R|uc002afv.4,p.S612R|NM_001270530,p.S612R|ENST00000557998,p.S612R|ENST00000561186,p.S612R|uc002afx.4,p.S138R	retained_intron, protein_coding, processed_transcript	uc002afx.4	nonsynonymous SNV	exon2	c.A412C	p.S138R	AIFGHQAAAAAPSQPLSSIDGYGSS	AIFGHQAAAAAPRQPLSSIDGYGSS	7.0	6.0	unscreened	-	4037_15:59368300-59368300 A>C_AIFGHQAAAAAPRQPLSSIDGYGSS
1:178412179-178412179 C>T	1.0	4037	LUNG	-	-	-	-	RASAL2	NM_004841,p.R285W|ENST00000367649,p.R433W|uc001glr.3,p.R285W|uc001glq.3,p.R433W|ENST00000448150,p.R415W|ENST00000462775,p.R285W|NM_170692,p.R433W	retained_intron, protein_coding, processed_transcript	uc001glr.3	nonsynonymous SNV	exon6	c.C853T	p.R285W	TPNKGKTGGPSIRIKSRFQTITILP	TPNKGKTGGPSIWIKSRFQTITILP	6.0	10.0	unscreened	-	4037_1:178412179-178412179 C>T_TPNKGKTGGPSIWIKSRFQTITILP
7:102952311-102952311 A>G	1.0	4037	LUNG	-	-	-	-	PMPCB	ENST00000428154,p.I433V|ENST00000249269,p.I433V|ENST00000420236,p.I328V|uc011kll.1,p.I328V|uc003vbl.3,p.I433V|NM_004279,p.I433V|uc003vbk.1,p.I433V	retained_intron, protein_coding, nonsense_mediated_decay	uc011kll.1	nonsynonymous SNV	exon11	c.A982G	p.I328V	DIGRQMLCYNRRIPIPELEARIDAV	DIGRQMLCYNRRVPIPELEARIDAV	9.0	3.0	unscreened	-	4037_7:102952311-102952311 A>G_DIGRQMLCYNRRVPIPELEARIDAV
20:49191091-49191091 A>T	1.0	4037	LUNG	-	-	-	-	PTPN1	NM_002827,p.K131I|ENST00000371621,p.K131I|NM_001278618,p.K58I|ENST00000541713,p.K58I|uc002xvl.3,p.K131I|uc010zys.2,p.K58I	protein_coding	uc010zys.2	nonsynonymous SNV	exon4	c.A173T	p.K58I	LKCAQYWPQKEEKEMIFEDTNLKLT	LKCAQYWPQKEEIEMIFEDTNLKLT	9.0	10.0	-	-	4037_20:49191091-49191091 A>T_LKCAQYWPQKEEIEMIFEDTNLKLT
7:5965305-5965305 T>A	1.0	4037	LUNG	-	-	-	-	CCZ1	NM_015622,p.F479Y|ENST00000537980,p.F336Y|uc003spf.3,p.F479Y|ENST00000325974,p.F479Y	retained_intron, protein_coding, processed_transcript	uc003spf.3	nonsynonymous SNV	exon15	c.T1436A	p.F479Y	VKKLCATQFNNIFFLD	VKKLCATQFNNIYFLD	9.0	10.0	-	-	4037_7:5965305-5965305 T>A_VKKLCATQFNNIYFLD
17:30521027-30521027 T>G	1.0	4037	LUNG	-	-	-	-	RHOT1	NM_001288758,p.L130R|ENST00000394692,p.L257R|uc002hha.3,p.L130R|uc002hgx.3,p.L130R|uc002hhb.3,p.L236R|uc002hgw.3,p.L257R|ENST00000581094,p.L257R|NM_001033567,p.L130R|NM_001288755,p.L236R|ENST00000581031,p.L257R|NM_001288754,p.L257R|uc002hgz.3,p.L257R|uc002hgy.3,p.L257R|ENST00000358365,p.L257R|uc010wby.2,p.L257R|ENST00000333942,p.L257R|NM_018307,p.L257R|NM_001033568,p.L257R|ENST00000545287,p.L257R|NM_001033566,p.L257R|ENST00000583994,p.L130R|ENST00000354266,p.L236R|uc002hgv.3,p.L257R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wby.2	nonsynonymous SNV	exon11	c.T770G	p.L257R	GLTLKGFLFLHTLFIQRGRHETTWT	GLTLKGFLFLHTRFIQRGRHETTWT	9.0	3.0	unscreened	-	4037_17:30521027-30521027 T>G_GLTLKGFLFLHTRFIQRGRHETTWT
9:34372679-34372679 A>C	1.0	4037	LUNG	-	-	-	-	KIAA1161	ENST00000379142,p.L51R|ENST00000297625,p.L54R	protein_coding	ENST00000379142	nonsynonymous SNV	exon1	c.T152G	p.L51R	CYYSVSLRKAERLRAELLDLKAGGF	CYYSVSLRKAERRRAELLDLKAGGF	9.0	1.0	unscreened	-	4037_9:34372679-34372679 A>C_CYYSVSLRKAERRRAELLDLKAGGF
4:77976352-77976352 A>C	1.0	4037	LUNG	-	-	-	-	CCNI	uc003hkm.3,p.L214R|NM_006835,p.L214R|ENST00000237654,p.L214R|uc011ccb.2,p.L200R|ENST00000537948,p.L200R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ccb.2	nonsynonymous SNV	exon5	c.T599G	p.L200R	LALAMVSLEMEKLIPDWLSLTIELL	LALAMVSLEMEKRIPDWLSLTIELL	10.0	7.0	-	-	4037_4:77976352-77976352 A>C_LALAMVSLEMEKRIPDWLSLTIELL
4:1305927-1305927 A>C	1.0	4037	LUNG	-	-	-	-	MAEA	ENST00000264750,p.K77T|uc003gdb.3,p.K77T|NM_001017405,p.K77T|ENST00000505177,p.K77T|ENST00000514708,p.K77T|ENST00000512842,p.K29T|NM_005882,p.K77T|uc011bvd.2,p.K29T|NM_001297433,p.K29T|ENST00000303400,p.K77T|uc011bvc.2,p.K76T|uc003gda.3,p.K77T|ENST00000503653,p.K77T|ENST00000505839,p.K29T|ENST00000510794,p.K76T|uc010ibs.1,p.K77T|uc003gdc.3,p.K77T|NM_001297431,p.K77T|NM_001297432,p.K76T|ENST00000509531,p.K77T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bvd.2	nonsynonymous SNV	exon2	c.A86C	p.K29T	DSVVSLLDGVVEKLSVLKRKAVESI	DSVVSLLDGVVETLSVLKRKAVESI	10.0	5.0	unscreened	-	4037_4:1305927-1305927 A>C_DSVVSLLDGVVETLSVLKRKAVESI
1:22216494-22216494 T>C	0.0	4037	LUNG	-	-	-	-	HSPG2	NM_001291860,p.Q185R|uc001bfj.3,p.Q185R|uc009vqd.3,p.Q185R|NM_005529,p.Q185R|ENST00000374695,p.Q185R	protein_coding, processed_transcript, nonsense_mediated_decay	uc009vqd.3	nonsynonymous SNV	exon6	c.A554G	p.Q185R	SVASYVTSPQGFQFRRLGTVPQFPR	SVASYVTSPQGFRFRRLGTVPQFPR	9.0	4.0	unscreened	-	4037_1:22216494-22216494 T>C_SVASYVTSPQGFRFRRLGTVPQFPR
9:34614756-34614756 T>C	1.0	4037	LUNG	-	-	-	-	DCTN3	ENST00000378916,p.E93G|ENST00000421919,p.E86G|NM_001281425,p.E93G	protein_coding, processed_transcript, nonsense_mediated_decay	NM_001281425	nonsynonymous SNV	exon4	c.A278G	p.E93G	ASKLQFILAAVPEHAARLQRLAQIH	ASKLQFILAAVPGHAARLQRLAQIH	10.0	1.0	unscreened	-	4037_9:34614756-34614756 T>C_ASKLQFILAAVPGHAARLQRLAQIH
1:22216494-22216494 T>C	0.0	4037	LUNG	-	-	-	-	HSPG2	ENST00000439717,p.Q151R	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000439717	nonsynonymous SNV	exon5	c.A452G	p.Q151R	SVASYVTSPQGFQFRRLGTGEPILV	SVASYVTSPQGFRFRRLGTGEPILV	9.0	4.0	unscreened	-	4037_1:22216494-22216494 T>C_SVASYVTSPQGFRFRRLGTGEPILV
17:39912118-39912118 A>C	1.0	4037	LUNG	-	-	-	-	JUP	uc002hxs.2,p.S706A|ENST00000310706,p.S706A|uc002hxq.2,p.S706A|NM_021991,p.S706A|ENST00000393930,p.S706A|ENST00000393931,p.S706A|NM_002230,p.S706A|uc002hxr.2,p.S706A	retained_intron, protein_coding	uc002hxs.2	nonsynonymous SNV	exon14	c.T2116G	p.S706A	GDDMDATYRPMYSSDVPLDPLEMHM	GDDMDATYRPMYASDVPLDPLEMHM	10.0	5.0	unscreened	-	4037_17:39912118-39912118 A>C_GDDMDATYRPMYASDVPLDPLEMHM
3:13461564-13461564 G>A	1.0	4037	LUNG	-	-	-	-	NUP210	uc003bxv.1,p.R55C|ENST00000254508,p.R55C|NM_024923,p.R55C	retained_intron, protein_coding, processed_transcript	uc003bxv.1	nonsynonymous SNV	exon1	c.C163T	p.R55C	VNFTLEASEGCYRWLSTRPEVASIE	VNFTLEASEGCYCWLSTRPEVASIE	7.0	5.0	unscreened	-	4037_3:13461564-13461564 G>A_VNFTLEASEGCYCWLSTRPEVASIE
19:10472263-10472263 C>A	1.0	4037	LUNG	-	-	-	-	TYK2	ENST00000529370,p.E657D|uc002moc.4,p.E657D|ENST00000525621,p.E657D|uc002mod.2,p.E657D|NM_003331,p.E657D|ENST00000264818,p.E657D|uc010dxe.3,p.E472D|ENST00000524462,p.E472D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dxe.3	nonsynonymous SNV	exon10	c.G1416T	p.E472D	DPSHHDIALAFYETASLMSQVSHTH	DPSHHDIALAFYDTASLMSQVSHTH	10.0	7.0	unscreened	-	4037_19:10472263-10472263 C>A_DPSHHDIALAFYDTASLMSQVSHTH
9:33073752-33073752 A>C	1.0	4037	LUNG	-	-	-	-	SMU1	uc003zsf.1,p.L27V|NM_018225,p.L27V|ENST00000397149,p.L27V	protein_coding	uc003zsf.1	nonsynonymous SNV	exon2	c.T79G	p.L27V	MQYLKENSLHRALATLQEETTVSLN	MQYLKENSLHRAVATLQEETTVSLN	9.0	1.0	unscreened	-	4037_9:33073752-33073752 A>C_MQYLKENSLHRAVATLQEETTVSLN
4:103560944-103560944 T>G	1.0	4037	LUNG	-	-	-	-	MANBA	uc011ces.2,p.Q590P|uc003hwg.3,p.Q647P|NM_005908,p.Q647P|ENST00000226578,p.Q647P|ENST00000505239,p.Q590P	retained_intron, protein_coding, nonsense_mediated_decay	uc011ces.2	nonsynonymous SNV	exon13	c.A1769C	p.Q590P	EFYRRSRSEIVDQQGHTMGALYWQL	EFYRRSRSEIVDPQGHTMGALYWQL	8.0	3.0	unscreened	-	4037_4:103560944-103560944 T>G_EFYRRSRSEIVDPQGHTMGALYWQL
11:58601988-58601988 T>G	1.0	4037	LUNG	-	-	-	-	GLYATL2	uc009ymq.3,p.S267R|NM_145016,p.S267R|uc001nnd.4,p.S267R|ENST00000287275,p.S267R|ENST00000532258,p.S267R	protein_coding, processed_transcript	uc009ymq.3	nonsynonymous SNV	exon7	c.A799C	p.S267R	PFYFHVADNNEKSLQALNNLGFKIC	PFYFHVADNNEKRLQALNNLGFKIC	10.0	7.0	unscreened	-	4037_11:58601988-58601988 T>G_PFYFHVADNNEKRLQALNNLGFKIC
19:15512103-15512103 T>C	1.0	4037	LUNG	-	-	-	-	AKAP8L	uc002nay.1,p.N225S|ENST00000397410,p.N225S|uc002naw.1,p.N225S|uc010xoh.1,p.N164S|uc002naz.3,p.N73S|NM_014371,p.N225S|NM_001291478,p.N164S|ENST00000595465,p.N164S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xoh.1	nonsynonymous SNV	exon5	c.A491G	p.N164S	SGASRLPSLFSQNIIPEYGMFQGMR	SGASRLPSLFSQSIIPEYGMFQGMR	10.0	10.0	-	-	4037_19:15512103-15512103 T>C_SGASRLPSLFSQSIIPEYGMFQGMR
1:6393622-6393622 T>C	1.0	4037	LUNG	-	-	-	-	ACOT7	ENST00000377860,p.K110R|ENST00000377845,p.K122R|ENST00000377855,p.K152R|ENST00000418124,p.K110R|NM_181866,p.K101R|uc001amq.3,p.K101R|ENST00000377842,p.K101R|ENST00000361521,p.K142R|NM_181864,p.K152R|uc001amr.3,p.K122R|NM_181865,p.K122R|ENST00000545482,p.K37R|ENST00000541130,p.K122R|uc001amt.3,p.K142R|ENST00000473466,p.K93R|uc001ams.3,p.K152R|NM_007274,p.K142R	retained_intron, protein_coding, nonsense_mediated_decay	uc001amt.3	nonsynonymous SNV	exon4	c.A425G	p.K142R	VNVMSENILTGAKKLTNKATLWYVP	VNVMSENILTGARKLTNKATLWYVP	7.0	6.0	-	-	4037_1:6393622-6393622 T>C_VNVMSENILTGARKLTNKATLWYVP
6:161529809-161529809 A>T	1.0	4037	LUNG	-	-	-	-	MAP3K4	uc011ega.2,p.K838M|ENST00000392142,p.K1385M|uc003qtp.3,p.K321M|ENST00000348824,p.K1331M|uc010kkc.2,p.K1360M|NM_001291958,p.K838M|ENST00000366920,p.K1381M|uc003qto.3,p.K1335M|NM_001301072,p.K1381M|NM_006724,p.K1335M|ENST00000544041,p.K1385M|NM_005922,p.K1385M|uc003qtq.3,p.K74M|ENST00000366919,p.K1335M|uc003qtn.3,p.K1385M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ega.2	nonsynonymous SNV	exon23	c.A2513T	p.K838M	EIRFQPNDHKTIKETADELKIFEGI	EIRFQPNDHKTIMETADELKIFEGI	6.0	8.0	unscreened	-	4037_6:161529809-161529809 A>T_EIRFQPNDHKTIMETADELKIFEGI
21:38545045-38545045 A>C	1.0	4037	LUNG	-	-	-	-	TTC3	uc002ywc.3,p.K1229T|uc002ywb.3,p.K1539T|uc002ywa.3,p.K1539T|NM_001001894,p.K1539T|NM_003316,p.K1539T|uc002ywd.1,p.K603T|uc002yvz.3,p.K1539T|ENST00000354749,p.K1539T|ENST00000355666,p.K1539T|ENST00000399017,p.K1539T|uc010gnf.3,p.K1304T	retained_intron, protein_coding, processed_transcript	uc010gnf.3	nonsynonymous SNV	exon33	c.A3911C	p.K1304T	LEEKLKRHLEENKISKTELDWFLQD	LEEKLKRHLEENTISKTELDWFLQD	10.0	2.0	unscreened	-	4037_21:38545045-38545045 A>C_LEEKLKRHLEENTISKTELDWFLQD
8:101724626-101724627 TT>-	0.0	4037	LUNG	-	-	-	2	PABPC1	NM_002568,p.K312fs|uc003yjs.1,p.K312fs|uc011lhd.1,p.K267fs|uc003yjt.1,p.K309fs|ENST00000522387,p.K280fs|uc011lhc.1,p.K280fs|ENST00000519004,p.K267fs|ENST00000318607,p.K312fs	retained_intron, protein_coding, nonsense_mediated_decay	uc011lhd.1	frameshift deletion	exon8	c.800_801del	p.K267fs	NLDDGIDDERLRKEFSPFGTITSAK	NLDDGIDDERLRRVFSIWYNH	10.0	9.0	unscreened	-	4037_8:101724626-101724627 TT>-_NLDDGIDDERLRRVFSIWYNH
3:127325105-127325105 A>G	1.0	4037	LUNG	-	-	-	-	MCM2	uc011bkn.2,p.K157R|ENST00000265056,p.K273R|uc003ejp.4,p.K273R|NM_004526,p.K273R|uc011bkm.3,p.K143R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bkn.2	nonsynonymous SNV	exon3	c.A470G	p.K157R	EAALEVVLAMYPKYDRITNHIHVRI	EAALEVVLAMYPRYDRITNHIHVRI	8.0	1.0	unscreened	-	4037_3:127325105-127325105 A>G_EAALEVVLAMYPRYDRITNHIHVRI
11:61630477-61630477 T>G	1.0	4037	LUNG	-	-	-	-	FADS2	uc010rlo.1,p.F275V|uc001nsj.2,p.F284V|ENST00000521849,p.F306V|uc001nsk.3,p.F306V|ENST00000522056,p.F275V|NM_004265,p.F306V|uc001nsl.1,p.F306V|ENST00000355484,p.F72V|ENST00000257261,p.F284V|NM_001281501,p.F284V|ENST00000521571,p.F72V|ENST00000278840,p.F306V|NM_001281502,p.F275V	retained_intron, protein_coding	uc010rlo.1	nonsynonymous SNV	exon8	c.T823G	p.F275V	VDLAWAVSYYIRFFITYIPFYGILG	VDLAWAVSYYIRVFITYIPFYGILG	10.0	4.0	unscreened	-	4037_11:61630477-61630477 T>G_VDLAWAVSYYIRVFITYIPFYGILG
X:47422656-47422656 A>T	1.0	4037	LUNG	-	-	-	2	ARAF	NM_001256196,p.D43V|ENST00000290277,p.D43V|uc011mlp.3,p.D43V|uc004dic.2,p.D43V|NM_001256197,p.D43V|ENST00000377045,p.D43V|ENST00000377039,p.D43V|uc031tjj.1,p.D43V|NM_001654,p.D43V	protein_coding, processed_transcript	uc031tjj.1	nonsynonymous SNV	exon3	c.A128T	p.D43V	TVVTVRDGMSVYDSLDKALKVRGLN	TVVTVRDGMSVYVSLDKALKVRGLN	9.0	2.0	unscreened	-	4037_X:47422656-47422656 A>T_TVVTVRDGMSVYVSLDKALKVRGLN
1:244574626-244574626 G>C	1.0	4037	LUNG	-	-	-	-	ADSS	ENST00000366535,p.N427K|NM_001126,p.N427K|uc001iaj.3,p.N427K	protein_coding, processed_transcript	uc001iaj.3	nonsynonymous SNV	exon12	c.C1281G	p.N427K	ARAFKELPVNAQNYVRFIEDELQIP	ARAFKELPVNAQKYVRFIEDELQIP	9.0	10.0	-	-	4037_1:244574626-244574626 G>C_ARAFKELPVNAQKYVRFIEDELQIP
14:57085335-57085335 C>A	1.0	4037	LUNG	-	-	-	-	TMEM260	ENST00000556422,p.S204R|uc001xcm.3,p.S360R|ENST00000538838,p.S360R|ENST00000261556,p.S360R|NM_017799,p.S360R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xcm.3	nonsynonymous SNV	exon10	c.C1080A	p.S360R	LFMGVVERFWMQSNAVVAVLAGIGL	LFMGVVERFWMQRNAVVAVLAGIGL	7.0	8.0	unscreened	-	4037_14:57085335-57085335 C>A_LFMGVVERFWMQRNAVVAVLAGIGL
4:1305927-1305927 A>C	1.0	4037	LUNG	-	-	-	-	MAEA	ENST00000513301,p.K77T|ENST00000509254,p.K77T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000513301	nonsynonymous SNV	exon2	c.A230C	p.K77T	DSVVSLLDGVVEKLSVLKRKVGPAW	DSVVSLLDGVVETLSVLKRKVGPAW	10.0	5.0	unscreened	-	4037_4:1305927-1305927 A>C_DSVVSLLDGVVETLSVLKRKVGPAW
16:846025-846025 A>G	1.0	4037	LUNG	-	-	-	-	CHTF18	uc002cke.4,p.T802A|NM_022092,p.T802A|ENST00000262315,p.T802A|uc010brf.3,p.T384A|uc002ckf.4,p.T830A|ENST00000317063,p.T1011A|ENST00000455171,p.T830A|uc002ckg.4,p.T320A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010brf.3	nonsynonymous SNV	exon15	c.A1150G	p.T384A	ASLVGTMLAYSLTYRQERTPDGQYI	ASLVGTMLAYSLAYRQERTPDGQYI	7.0	3.0	unscreened	-	4037_16:846025-846025 A>G_ASLVGTMLAYSLAYRQERTPDGQYI
8:41789983-41789983 A>C	1.0	4037	LUNG	-	-	-	1	KAT6A	uc010lxc.3,p.L1919V|NM_001099412,p.L1919V|ENST00000406337,p.L1919V|NM_001099413,p.L1919V|uc003xon.4,p.L1919V|NM_006766,p.L1919V|ENST00000396930,p.L1919V|uc010lxb.3,p.L1919V|ENST00000265713,p.L1919V	retained_intron, protein_coding	uc010lxc.3	nonsynonymous SNV	exon18	c.T5755G	p.L1919V	PAYNVNSMNMNTLNAMNSYRMTQPM	PAYNVNSMNMNTVNAMNSYRMTQPM	9.0	1.0	unscreened	-	4037_8:41789983-41789983 A>C_PAYNVNSMNMNTVNAMNSYRMTQPM
8:18729338-18729338 A>G	1.0	4037	LUNG	-	-	-	-	PSD3	ENST00000327040,p.S346P|ENST00000440756,p.S346P|NM_015310,p.S346P|uc003wza.3,p.S346P|ENST00000523619,p.S281P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003wza.3	nonsynonymous SNV	exon3	c.T1036C	p.S346P	SKESSKVPRHLISSAGLCNSSSLTE	SKESSKVPRHLIPSAGLCNSSSLTE	5.0	10.0	unscreened	-	4037_8:18729338-18729338 A>G_SKESSKVPRHLIPSAGLCNSSSLTE
1:155166878-155166878 A>C	1.0	4037	LUNG	-	-	-	-	THBS3	uc009wqi.3,p.S867A|NM_007112,p.S876A|NM_001252608,p.S756A|ENST00000541576,p.S273A|uc021pat.1,p.S273A|ENST00000457183,p.S756A|uc010pfu.2,p.S756A|ENST00000368378,p.S876A|NM_001252607,p.S867A|ENST00000541990,p.S405A|uc001fix.3,p.S876A|uc001fiy.3,p.S405A	protein_coding, processed_transcript	uc021pat.1	nonsynonymous SNV	exon11	c.T817G	p.S273A	TDPRNVGWRDKTSYRWQLLHRPQVG	TDPRNVGWRDKTAYRWQLLHRPQVG	7.0	1.0	unscreened	-	4037_1:155166878-155166878 A>C_TDPRNVGWRDKTAYRWQLLHRPQVG
7:44620776-44620776 T>A	1.0	4037	LUNG	-	-	-	-	TMED4	ENST00000481238,p.K150N|uc003tlj.3,p.K91N|NM_182547,p.K150N|uc003tlk.3,p.K150N|ENST00000457408,p.K150N|uc003tli.3,p.K150N	retained_intron, protein_coding, processed_transcript	uc003tlk.3	nonsynonymous SNV	exon4	c.A450T	p.K150N	GEHANNYPEIAAKDKLTELQLRARQ	GEHANNYPEIAANDKLTELQLRARQ	10.0	6.0	unscreened	-	4037_7:44620776-44620776 T>A_GEHANNYPEIAANDKLTELQLRARQ
4:1305927-1305927 A>C	1.0	4037	LUNG	-	-	-	-	MAEA	ENST00000452175,p.K66T|ENST00000502558,p.K77T|uc011bvb.2,p.K77T|NM_001297430,p.K77T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bvb.2	nonsynonymous SNV	exon2	c.A230C	p.K77T	DSVVSLLDGVVEKLSVLKRKDLVNI	DSVVSLLDGVVETLSVLKRKDLVNI	10.0	5.0	unscreened	-	4037_4:1305927-1305927 A>C_DSVVSLLDGVVETLSVLKRKDLVNI
7:33069262-33069262 A>C	0.0	4037	LUNG	-	-	-	-	NT5C3A	ENST00000404479,p.K419T|uc011kai.2,p.K419T	retained_intron, protein_coding, processed_transcript	uc011kai.2	nonsynonymous SNV	exon11	c.A1256C	p.K419T	TQDVLPQANHSFKFLITDRRITPRP	TQDVLPQANHSFTFLITDRRITPRP	9.0	6.0	unscreened	-	4037_7:33069262-33069262 A>C_TQDVLPQANHSFTFLITDRRITPRP
1:53746336-53746336 T>C	1.0	4037	LUNG	-	-	-	-	LRP8	ENST00000354412,p.K140R|NM_033300,p.K140R|NM_004631,p.K140R|ENST00000347547,p.K140R|ENST00000371454,p.K140R|NM_001018054,p.K140R|ENST00000306052,p.K140R|ENST00000480045,p.K140R|uc001cvi.2,p.K140R|NM_017522,p.K140R|uc001cvl.2,p.K140R|uc001cvk.2,p.K140R|uc001cvj.2,p.K140R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001cvl.2	nonsynonymous SNV	exon4	c.A419G	p.K140R	PAEKLSCGPTSHKCVPASWRCDGEK	PAEKLSCGPTSHRCVPASWRCDGEK	5.0	5.0	unscreened	-	4037_1:53746336-53746336 T>C_PAEKLSCGPTSHRCVPASWRCDGEK
8:56985681-56985681 C>T	1.0	4037	LUNG	-	-	-	-	RPS20	uc003xsm.2,p.V110I|NM_001146227,p.V110I|ENST00000519807,p.V110I	retained_intron, protein_coding, processed_transcript	uc003xsm.2	nonsynonymous SNV	exon4	c.G328A	p.V110I	VKQITSISIEPGVELIESTDAEPMD	VKQITSISIEPGIELIESTDAEPMD	10.0	3.0	unscreened	-	4037_8:56985681-56985681 C>T_VKQITSISIEPGIELIESTDAEPMD
20:4680575-4680575 T>G	1.0	4037	LUNG	-	-	-	-	PRNP	uc002wky.3,p.S237A|ENST00000379440,p.S237A|uc002wkt.1,p.S207A|NM_001080123,p.S237A|NM_001080121,p.S237A|ENST00000430350,p.S237A|NM_000311,p.S237A|ENST00000424424,p.S237A|uc021wae.1,p.S237A|NM_183079,p.S237A|uc002wkx.3,p.S237A|NM_001080122,p.S237A|uc002wku.3,p.S237A|uc002wkv.3,p.S237A	protein_coding	uc021wae.1	nonsynonymous SNV	exon1	c.T709G	p.S237A	YYQRGSSMVLFSSPPVILLISFLIF	YYQRGSSMVLFSAPPVILLISFLIF	10.0	5.0	unscreened	-	4037_20:4680575-4680575 T>G_YYQRGSSMVLFSAPPVILLISFLIF
1:31349808-31349808 T>A	1.0	4037	LUNG	-	-	-	-	SDC3	uc001bsd.2,p.Q96L|uc001bse.2,p.Q154L|NM_014654,p.Q154L|ENST00000336798,p.Q96L|ENST00000339394,p.Q154L	protein_coding, processed_transcript	uc001bse.2	nonsynonymous SNV	exon3	c.A461T	p.Q154L	PLVVTEVPEEPSQRATTVSTTMATT	PLVVTEVPEEPSLRATTVSTTMATT	8.0	8.0	unscreened	-	4037_1:31349808-31349808 T>A_PLVVTEVPEEPSLRATTVSTTMATT
13:100188892-100188892 T>G	1.0	4037	LUNG	-	-	-	-	TM9SF2	uc001voj.2,p.C164W|ENST00000376387,p.C164W|NM_004800,p.C164W	protein_coding, processed_transcript	uc001voj.2	nonsynonymous SNV	exon5	c.T492G	p.C164W	HHWIVDNMPVTWCYDVEDGQRFCNP	HHWIVDNMPVTWWYDVEDGQRFCNP	10.0	3.0	unscreened	-	4037_13:100188892-100188892 T>G_HHWIVDNMPVTWWYDVEDGQRFCNP
2:174227972-174227972 G>A	1.0	4037	LUNG	-	-	-	-	CDCA7	uc010zek.1,p.E14K|ENST00000410019,p.E14K	retained_intron, protein_coding, nonsense_mediated_decay	uc010zek.1	nonsynonymous SNV	exon2	c.G40A	p.E14K	DARRVPRLQSVREGCRTRSQCRHSG	DARRVPRLQSVRKGCRTRSQCRHSG	7.0	10.0	unscreened	-	4037_2:174227972-174227972 G>A_DARRVPRLQSVRKGCRTRSQCRHSG
12:31881912-31881912 G>T	1.0	4037	LUNG	-	-	-	-	AMN1	NM_001113402,p.L11M|uc001rkq.4,p.L11M|ENST00000281471,p.L11M	protein_coding, processed_transcript	uc001rkq.4	nonsynonymous SNV	exon1	c.C31A	p.L11M	MPRPRRVSQLLDLCLWCFMKNIS	MPRPRRVSQLMDLCLWCFMKNIS	5.0	9.0	unscreened	-	4037_12:31881912-31881912 G>T_MPRPRRVSQLMDLCLWCFMKNIS
13:99483729-99483729 T>C	1.0	4037	LUNG	-	-	-	-	DOCK9	uc001vnu.1,p.E53G|uc021rlw.1,p.E1480G|uc001vnq.2,p.E53G|uc001vns.2,p.E53G|uc001vnt.2,p.E1481G|uc010tio.1,p.E173G|uc010tir.1,p.E1481G|uc001vnw.2,p.E1480G|uc001vnr.2,p.E124G|ENST00000340449,p.E124G|ENST00000339416,p.E1481G|ENST00000376460,p.E1480G|uc010tin.1,p.E124G|uc010tip.1,p.E191G|ENST00000449796,p.E224G|uc010tiq.1,p.E459G	protein_coding, processed_transcript	uc021rlw.1	nonsynonymous SNV	exon41	c.A4439G	p.E1480G	EGRADMCAALCYEILKCCNSKLSSI	EGRADMCAALCYGILKCCNSKLSSI	8.0	2.0	unscreened	-	4037_13:99483729-99483729 T>C_EGRADMCAALCYGILKCCNSKLSSI
20:44048858-44048858 A>G	1.0	4037	LUNG	-	-	-	-	PIGT	uc010zwy.3,p.K153R|ENST00000543458,p.K199R|NM_001184730,p.K153R|uc010ghe.2,p.K218R|NM_015937,p.K255R|ENST00000279035,p.K153R|NM_001184728,p.K199R|uc010ghd.2,p.K162R|ENST00000279036,p.K255R|ENST00000535404,p.K100R|uc002xol.2,p.K111R|uc010ghf.2,p.K208R|uc010zww.3,p.K199R|uc010ghb.2,p.K245R|uc010zxa.3,p.K93R|uc002xoh.3,p.K255R|uc010zwx.3,p.K90R|ENST00000372689,p.K255R|NM_001184729,p.K255R|uc002xoj.3,p.K255R	protein_coding	uc010zxa.3	nonsynonymous SNV	exon5	c.A278G	p.K93R	SVVFDAFITGQGKKDWSLFRMFSRT	SVVFDAFITGQGRKDWSLFRMFSRT	10.0	1.0	unscreened	-	4037_20:44048858-44048858 A>G_SVVFDAFITGQGRKDWSLFRMFSRT
15:90294296-90294296 ->CGGGGCTCGGCA	0.0	4037	LUNG	-	-	-	-	MESP1	uc002bol.3,p.A56delinsVPSPA|ENST00000300057,p.A56delinsVPSPA|NM_018670,p.A56delinsVPSPA	protein_coding, processed_transcript	uc002bol.3	nonframeshift insertion	exon1	c.166_167insTGCCGAGCCCCG	p.A56delinsVPSPA	GSTPADSPVASPARPGTLRDPRAPS	GSTPADSPVASPVPSPARPGTLRDP	8.0	8.0	unscreened	-	4037_15:90294296-90294296 ->CGGGGCTCGGCA_GSTPADSPVASPVPSPARPGTLRDP
2:97215191-97215191 A>C	0.0	4037	LUNG	-	-	-	-	ARID5A	ENST00000357485,p.K85T|uc031ron.1,p.K17T|NM_212481,p.K85T|uc002swe.3,p.K85T|ENST00000454558,p.K17T	retained_intron, protein_coding, nonsense_mediated_decay	uc031ron.1	nonsynonymous SNV	exon3	c.A50C	p.K17T	HTPIERVPHLGFKQINLWKIYKAVE	HTPIERVPHLGFTQINLWKIYKAVE	8.0	4.0	unscreened	-	4037_2:97215191-97215191 A>C_HTPIERVPHLGFTQINLWKIYKAVE
11:64974117-64974117 T>G	1.0	4037	LUNG	-	-	-	-	CAPN1	ENST00000527323,p.F513V|uc001odg.2,p.F513V|uc009yqd.2,p.F513V|NM_005186,p.F513V|NM_001198868,p.F513V|uc001odf.2,p.F513V|uc010roa.2,p.F254V|ENST00000279247,p.F513V|NM_001198869,p.F513V|ENST00000533820,p.F513V|ENST00000524773,p.F513V|ENST00000533129,p.F513V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010roa.2	nonsynonymous SNV	exon12	c.T760G	p.F254V	FEPNKEGDFVLRFFSEKSAGTVELD	FEPNKEGDFVLRVFSEKSAGTVELD	10.0	7.0	unscreened	-	4037_11:64974117-64974117 T>G_FEPNKEGDFVLRVFSEKSAGTVELD
6:26056237-26056245 CTTCTTGGG>-	1.0	4037	LUNG	-	-	-	-	HIST1H1C	NM_005319,p.138_140del|uc003nfw.3,p.138_140del|ENST00000343677,p.138_140del	protein_coding	uc003nfw.3	nonframeshift deletion	exon1	c.412_420del	p.138_140del	TKPKKPVGAAKKPKKAAGGATPKKS	TKPKKPVGAAKKAAGGATPKKSAKK	9.0	10.0	unscreened	-	4037_6:26056237-26056245 CTTCTTGGG>-_TKPKKPVGAAKKAAGGATPKKSAKK
8:101273855-101273855 T>G	1.0	4037	LUNG	-	-	-	-	RNF19A	ENST00000341084,p.S533R|NM_015435,p.S533R|NM_183419,p.S533R|ENST00000519449,p.S533R|NM_001280539,p.S533R|uc003yjk.2,p.S533R|uc003yjj.1,p.S533R	retained_intron, protein_coding, processed_transcript	uc003yjk.2	nonsynonymous SNV	exon8	c.A1597C	p.S533R	HMDRIGAIRDNLSETASTMALAGAS	HMDRIGAIRDNLRETASTMALAGAS	10.0	3.0	unscreened	-	4037_8:101273855-101273855 T>G_HMDRIGAIRDNLRETASTMALAGAS
5:140890658-140890658 A>C	1.0	4037	LUNG	-	-	-	-	PCDHGA1,PCDHGA10,PCDHGA11,PCDHGA12,PCDHGA2,PCDHGA3,PCDHGA4,PCDHGA5,PCDHGA6,PCDHGA7,PCDHGA8,PCDHGA9,PCDHGB1,PCDHGB2,PCDHGB3,PCDHGB4,PCDHGB5,PCDHGB6,PCDHGB7,PCDHGC3,PCDHGC4,PCDHGC5	uc003lkt.2,p.N906T|ENST00000252085,p.N906T|uc003lkj.2,p.N904T|uc003ljs.2,p.N905T|ENST00000398594,p.N903T|NM_018921,p.N906T|NM_018914,p.N909T|uc003lkv.2,p.N908T|uc003ljo.2,p.N901T|NM_018920,p.N906T|ENST00000519479,p.N897T|uc003lkp.2,p.N724T|ENST00000522605,p.N905T|uc003ljw.2,p.N903T|NM_018915,p.N906T|ENST00000523390,p.N901T|ENST00000518882,p.N724T|uc003ljy.2,p.N906T|uc003lkc.2,p.N897T|ENST00000308177,p.N908T|uc003lkl.2,p.N910T|uc003ljq.2,p.N905T|ENST00000573521,p.N906T|uc003lkh.2,p.N906T|ENST00000398610,p.N910T|NM_032088,p.N906T|NM_018916,p.N906T|uc003lkq.2,p.N909T|NM_018918,p.N905T|ENST00000253812,p.N906T|NM_018926,p.N904T|uc003lkd.2,p.N906T|ENST00000576222,p.N903T|ENST00000398587,p.N909T|uc003lju.2,p.N905T|uc003ljk.2,p.N906T|uc003lka.2,p.N906T|NM_018912,p.N905T|NM_018929,p.N918T|ENST00000517434,p.N906T|NM_018923,p.N905T|ENST00000520790,p.N904T|uc003ljm.2,p.N906T|NM_018913,p.N910T|NM_032403,p.N108T|ENST00000571252,p.N905T|ENST00000398604,p.N906T|NM_018925,p.N897T|ENST00000306593,p.N912T|uc003lkw.2,p.N108T|uc003lkf.2,p.N897T|NM_018924,p.N903T|NM_002588,p.N908T|uc003lkn.2,p.N903T|ENST00000517417,p.N905T|ENST00000518325,p.N906T|NM_018922,p.N901T|uc003lla.2,p.N918T|NM_018928,p.N912T|ENST00000518069,p.N905T|ENST00000394576,p.N906T|NM_003735,p.N906T|ENST00000252087,p.N918T|NM_018917,p.N936T|uc003lji.2,p.N905T|NM_032092,p.N724T|NM_018919,p.N906T|NM_018927,p.N903T|NM_003736,p.N897T|uc003lky.2,p.N912T	protein_coding	uc003lla.2	nonsynonymous SNV	exon4	c.A2753C	p.N918T	NVYIPGSNATLTNAAGKRDGKAPAG	NVYIPGSNATLTTAAGKRDGKAPAG	5.0	8.0	unscreened	-	4037_5:140890658-140890658 A>C_NVYIPGSNATLTTAAGKRDGKAPAG
16:67645338-67645338 ->A	1.0	4037	LUNG	-	-	ID=COSM1180830;OCCURENCE=1(large_intestine)	1	CTCF	ENST00000264010,p.A201fs|NM_006565,p.A201fs|uc002etl.3,p.A201fs	retained_intron, protein_coding	uc002etl.3	frameshift insertion	exon3	c.604dupA	p.A201fs	PSWQKDPDYQPPAKKTKKTKKSKLR	PSWQKDPDYQPPAKKNKENQKEQTALYRGGQRCRCVCLRF	8.0	10.0	unscreened	-	4037_16:67645338-67645338 ->A_PSWQKDPDYQPPAKKNKENQKEQTALYRGGQRCRCVCLRF
11:72535161-72535161 T>G	1.0	4037	LUNG	-	-	-	-	ATG16L2	ENST00000538973,p.L125R|NM_033388,p.L294R|ENST00000321297,p.L294R|ENST00000541367,p.L125R|uc001ote.3,p.L188R|uc001otd.3,p.L294R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ote.3	nonsynonymous SNV	exon8	c.T563G	p.L188R	LTLSHCVDVVKGLLDFKKRRGHSIG	LTLSHCVDVVKGRLDFKKRRGHSIG	7.0	4.0	unscreened	-	4037_11:72535161-72535161 T>G_LTLSHCVDVVKGRLDFKKRRGHSIG
13:73348170-73348170 A>C	1.0	4037	LUNG	-	-	-	-	DIS3	NM_001128226,p.L309V|uc001vix.4,p.L339V|ENST00000377767,p.L339V|ENST00000490646,p.L339V|uc001viy.4,p.L309V|ENST00000545453,p.L177V|NM_014953,p.L339V|ENST00000377780,p.L309V	protein_coding, processed_transcript, nonsense_mediated_decay	uc001viy.4	nonsynonymous SNV	exon7	c.T925G	p.L309V	ERMLKTAVSEKMLKPTGRVVGIIKR	ERMLKTAVSEKMVKPTGRVVGIIKR	8.0	3.0	unscreened	-	4037_13:73348170-73348170 A>C_ERMLKTAVSEKMVKPTGRVVGIIKR
17:58529262-58529262 A>G	0.0	4037	LUNG	-	-	-	-	APPBP2	NM_001282476,p.Y424H|uc002iys.1,p.Y495H|NM_006380,p.Y495H|uc010ddl.1,p.Y424H|ENST00000083182,p.Y495H	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ddl.1	nonsynonymous SNV	exon11	c.T1270C	p.Y424H	YDMNQYENAEKLYLRSIAIGKKLFG	YDMNQYENAEKLHLRSIAIGKKLFG	6.0	3.0	unscreened	-	4037_17:58529262-58529262 A>G_YDMNQYENAEKLHLRSIAIGKKLFG
17:33586613-33586613 T>C	1.0	4037	LUNG	-	-	-	-	SLFN5	uc002hjf.4,p.C302R|ENST00000299977,p.C302R|ENST00000592325,p.C302R|NM_144975,p.C302R|uc002hje.3,p.C302R|ENST00000542451,p.C302R|uc010wcg.2,p.C302R	protein_coding	uc010wcg.2	nonsynonymous SNV	exon2	c.T904C	p.C302R	RGYVCAIKVEKFCCAVFAKVPSSWQ	RGYVCAIKVEKFRCAVFAKVPSSWQ	6.0	8.0	unscreened	-	4037_17:33586613-33586613 T>C_RGYVCAIKVEKFRCAVFAKVPSSWQ
2:8946483-8946483 A>G	1.0	4037	LUNG	-	-	-	-	KIDINS220	ENST00000256707,p.L174S|uc010yiw.1,p.L175S|ENST00000489024,p.L175S|NM_020738,p.L174S|ENST00000473731,p.L174S|uc002qzc.2,p.L174S|ENST00000418530,p.L132S|ENST00000319688,p.L175S|uc002qzd.2,p.L132S|ENST00000427284,p.L174S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yiw.1	nonsynonymous SNV	exon7	c.T524C	p.L175S	KVNCSDKYGTTPLVWAARKGHLECV	KVNCSDKYGTTPSVWAARKGHLECV	8.0	9.0	unscreened	-	4037_2:8946483-8946483 A>G_KVNCSDKYGTTPSVWAARKGHLECV
3:129290037-129290037 T>C	1.0	4037	LUNG	-	-	-	-	PLXND1	ENST00000393239,p.E1149G|uc003emx.2,p.E1149G|NM_015103,p.E1149G|ENST00000324093,p.E1149G	retained_intron, protein_coding, nonsense_mediated_decay	uc003emx.2	nonsynonymous SNV	exon18	c.A3446G	p.E1149G	VDFFINGRAYADEVAVAEELLDPEE	VDFFINGRAYADGVAVAEELLDPEE	10.0	4.0	unscreened	-	4037_3:129290037-129290037 T>C_VDFFINGRAYADGVAVAEELLDPEE
1:155029681-155029681 A>C	1.0	4037	LUNG	-	-	-	-	ADAM15	NM_003815,p.N389T|uc001fgx.2,p.N389T|NM_001261466,p.N373T|ENST00000359280,p.N389T|uc001fgv.2,p.N389T|NM_207195,p.N389T|ENST00000360674,p.N389T|uc001fgt.2,p.N389T|ENST00000526491,p.N389T|uc001fgw.2,p.N389T|uc010pet.2,p.N373T|ENST00000356955,p.N389T|uc010pev.2,p.N399T|ENST00000529473,p.N389T|ENST00000355956,p.N389T|ENST00000368412,p.N389T|uc010peu.2,p.N406T|ENST00000449910,p.N389T|uc001fgq.1,p.N74T|NM_207196,p.N389T|NM_001261465,p.N389T|uc001fgs.2,p.N389T|uc001fgu.2,p.N389T|NM_207194,p.N389T|ENST00000531455,p.N399T|uc001fgr.2,p.N389T|NM_207197,p.N389T|ENST00000271836,p.N389T|NM_001261464,p.N399T|ENST00000447332,p.N373T|NM_207191,p.N389T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010pev.2	nonsynonymous SNV	exon12	c.A1196C	p.N399T	IMEASTDFLPGLNFSNCSRRALEKA	IMEASTDFLPGLTFSNCSRRALEKA	10.0	2.0	unscreened	-	4037_1:155029681-155029681 A>C_IMEASTDFLPGLTFSNCSRRALEKA
1:33625385-33625385 A>G	1.0	4037	LUNG	-	-	-	-	TRIM62	NM_018207,p.L222P|ENST00000291416,p.L222P|ENST00000543586,p.L101P|uc001bxb.3,p.L222P	protein_coding, processed_transcript	uc001bxb.3	nonsynonymous SNV	exon3	c.T665C	p.L222P	DIEQKVQRYSQQLRKVQEGAQILQE	DIEQKVQRYSQQPRKVQEGAQILQE	5.0	3.0	unscreened	-	4037_1:33625385-33625385 A>G_DIEQKVQRYSQQPRKVQEGAQILQE
1:63018567-63018567 C>G	1.0	4037	LUNG	-	-	-	-	DOCK7	NM_001272001,p.G868R|uc001daq.4,p.G868R|NM_033407,p.G868R|NM_001272000,p.G868R|ENST00000251157,p.G868R|uc001dao.4,p.G868R|uc001dap.4,p.G868R|ENST00000340370,p.G868R|uc001dam.3,p.G48R|NM_001271999,p.G868R|uc001dan.4,p.G868R	protein_coding, processed_transcript	uc001daq.4	nonsynonymous SNV	exon22	c.G2602C	p.G868R	PNTYPNSSSPGPGGLGGSVHYATMA	PNTYPNSSSPGPRGLGGSVHYATMA	5.0	9.0	unscreened	-	4037_1:63018567-63018567 C>G_PNTYPNSSSPGPRGLGGSVHYATMA
22:39262965-39262965 T>G	1.0	4037	LUNG	-	-	-	-	CBX6	uc003awl.3,p.K163T|NM_014292,p.K163T|ENST00000407418,p.K163T|ENST00000216083,p.K145T	retained_intron, protein_coding	uc003awl.3	nonsynonymous SNV	exon5	c.A488C	p.K163T	SPFSETVRIINRKVKPREPKRNRII	SPFSETVRIINRTVKPREPKRNRII	7.0	6.0	unscreened	-	4037_22:39262965-39262965 T>G_SPFSETVRIINRTVKPREPKRNRII
19:49622223-49622224 AC>-	0.0	4037	LUNG	-	-	-	-	C19orf73	NM_018111,p.C19fs|uc002pmq.4,p.C19fs|ENST00000408991,p.C19fs	protein_coding	uc002pmq.4	frameshift deletion	exon1	c.56_57del	p.C19fs	FQGGGCFRKDALCLEGGVSARWARA	FQGGGCFRKDALFGRWSERPVGEGTSFCTPAPASGTARGTPTRDSHADSSAACRVPPADEANGSLRPAHTEAAHWLRLRFRTLEEGTWPSPSDALKGRQRCPQFCPSTQTQTGSLPPPSALGL	6.0	1.0	unscreened	-	4037_19:49622223-49622224 AC>-_FQGGGCFRKDALFGRWSERPVGEGTSFCTPAPASGTARGTPTRDSHADSSAACRVPPADEANGSLRPAHTEAAHWLRLRFRTLEEGTWPSPSDALKGRQRCPQFCPSTQTQTGSLPPPSALGL
6:111498498-111498498 T>G	1.0	4037	LUNG	-	-	-	-	SLC16A10	NM_018593,p.L191W|uc003pur.4,p.L191W|ENST00000368851,p.L191W|uc003pus.3,p.L191W	protein_coding, processed_transcript	uc003pus.3	nonsynonymous SNV	exon3	c.T572G	p.L191W	GCSFAYQPSLVILGHYFKKRLGLVN	GCSFAYQPSLVIWGHYFKKRLGLVN	4.0	10.0	unscreened	-	4037_6:111498498-111498498 T>G_GCSFAYQPSLVIWGHYFKKRLGLVN
6:90406185-90406185 A>T	0.0	4037	LUNG	-	-	-	-	MDN1	ENST00000369393,p.S3093T|NM_014611,p.S3093T|uc003pnn.1,p.S3093T|ENST00000428876,p.S3093T	protein_coding, processed_transcript, nonsense_mediated_decay	uc003pnn.1	nonsynonymous SNV	exon60	c.T9277A	p.S3093T	SPWDVSGLPILSSSHVTLGEWVERT	SPWDVSGLPILSTSHVTLGEWVERT	6.0	1.0	unscreened	-	4037_6:90406185-90406185 A>T_SPWDVSGLPILSTSHVTLGEWVERT
1:3417869-3417869 C>A	1.0	4037	LUNG	-	-	-	-	MEGF6	uc001akl.3,p.C773F|NM_001409,p.C773F|ENST00000356575,p.C773F|uc001akk.3,p.C668F|ENST00000294599,p.C668F|ENST00000485002,p.C780F	retained_intron, protein_coding, nonsense_mediated_decay	uc001akl.3	nonsynonymous SNV	exon19	c.G2318T	p.C773F	PPGRTGEDCEADCPEGRWGLGCQEI	PPGRTGEDCEADFPEGRWGLGCQEI	6.0	9.0	-	-	4037_1:3417869-3417869 C>A_PPGRTGEDCEADFPEGRWGLGCQEI
8:101724994-101724994 ->A	0.0	4037	LUNG	-	-	-	2	PABPC1	uc011lhc.1,p.K222fs|uc003yjs.1,p.K254fs|ENST00000318607,p.K254fs|ENST00000522387,p.K222fs|uc011lhd.1,p.K209fs|uc003yjt.1,p.K251fs|ENST00000519004,p.K209fs|NM_002568,p.K254fs	retained_intron, protein_coding, nonsense_mediated_decay	uc011lhd.1	frameshift insertion	exon7	c.626_627insT	p.K209fs	EDAQKAVDEMNGKELNGKQIYVGRA	EDAQKAVDEMNGNGAQWKTNLCWSSSEKGGTADGT	10.0	1.0	unscreened	-	4037_8:101724994-101724994 ->A_EDAQKAVDEMNGNGAQWKTNLCWSSSEKGGTADGT
2:74007181-74007195 CCTAAACAGGAAAAG>-	0.0	4037	LUNG	-	-	-	-	DUSP11	uc002sjq.4,p.16_21del|ENST00000443070,p.16_21del|ENST00000272444,p.16_21del|NM_003584,p.16_21del|uc002sjp.3,p.16_21del	protein_coding, processed_transcript	uc002sjq.4	nonframeshift deletion	exon1	c.48_62del	p.16_21del	SETLERGVGGCRVFSCLGSYPGIEG	SETLERGVGGCRVSYPGIEGAGLAL	7.0	10.0	unscreened	-	4037_2:74007181-74007195 CCTAAACAGGAAAAG>-_SETLERGVGGCRVSYPGIEGAGLAL
15:31234023-31234023 A>C	1.0	4037	LUNG	-	-	-	-	MTMR10	uc001zfh.1,p.F662V|ENST00000435680,p.F662V|uc001zfg.1,p.F243V|uc010ubk.1,p.F76V|uc010azx.1,p.F414V|NM_017762,p.F662V	retained_intron, protein_coding, nonsense_mediated_decay	uc010ubk.1	nonsynonymous SNV	exon3	c.T226G	p.F76V	SGTHIKLWKLCYFRWVPEAQISLGG	SGTHIKLWKLCYVRWVPEAQISLGG	7.0	6.0	unscreened	-	4037_15:31234023-31234023 A>C_SGTHIKLWKLCYVRWVPEAQISLGG
14:23344304-23344304 A>C	1.0	4037	LUNG	-	-	-	-	LRP10	ENST00000546834,p.T86P|NM_014045,p.T86P|ENST00000359591,p.T86P|uc001whd.3,p.T86P	retained_intron, protein_coding, processed_transcript	uc001whd.3	nonsynonymous SNV	exon4	c.A256C	p.T86P	QKLHLACGSERLTLRSPLQPLISLC	QKLHLACGSERLPLRSPLQPLISLC	10.0	5.0	unscreened	-	4037_14:23344304-23344304 A>C_QKLHLACGSERLPLRSPLQPLISLC
7:70254934-70254952 CGAAAGAGGGCCACCTGCC>-	0.0	4037	LUNG	-	-	-	-	AUTS2	uc003tvx.4,p.A887fs|uc011keg.2,p.A363fs|uc003tvw.4,p.A911fs|NM_015570,p.A911fs|ENST00000406775,p.A887fs|ENST00000342771,p.A911fs|NM_001127231,p.A887fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011keg.2	frameshift deletion	exon11	c.1088_1106del	p.A363fs	ESRKDLAADEHKAKEGHLPEKDGHG	ESRKDLAADEHKARRTGTATRGAPRAKRPSSWPGCRLPTCGPRWWRVPGPTAPRAGRPSRARVSRPTRTPRRAPRSR	8.0	9.0	unscreened	-	4037_7:70254934-70254952 CGAAAGAGGGCCACCTGCC>-_ESRKDLAADEHKARRTGTATRGAPRAKRPSSWPGCRLPTCGPRWWRVPGPTAPRAGRPSRARVSRPTRTPRRAPRSR
8:101724606-101724606 G>A	0.0	4037	LUNG	-	-	ID=COSM485880;OCCURENCE=1(endometrium),1(kidney)	2	PABPC1	NM_002568,p.T319I|uc011lhd.1,p.T274I|uc011lhc.1,p.T287I|ENST00000318607,p.T319I|ENST00000519004,p.T274I|uc003yjs.1,p.T319I|ENST00000522387,p.T287I|uc003yjt.1,p.T316I	retained_intron, protein_coding, nonsense_mediated_decay	uc011lhd.1	nonsynonymous SNV	exon8	c.C821T	p.T274I	DERLRKEFSPFGTITSAKVMMEGGR	DERLRKEFSPFGIITSAKVMMEGGR	10.0	9.0	unscreened	-	4037_8:101724606-101724606 G>A_DERLRKEFSPFGIITSAKVMMEGGR
10:63851303-63851303 A>G	1.0	4037	LUNG	-	-	-	-	ARID5B	uc001jlt.2,p.K694R|NM_032199,p.K694R|NM_001244638,p.K451R|ENST00000309334,p.K451R|ENST00000279873,p.K694R|uc001jlu.2,p.K451R	protein_coding	uc001jlu.2	nonsynonymous SNV	exon7	c.A1352G	p.K451R	GNPGIMSPLAKKKLLSQVSGASLSS	GNPGIMSPLAKKRLLSQVSGASLSS	7.0	3.0	unscreened	-	4037_10:63851303-63851303 A>G_GNPGIMSPLAKKRLLSQVSGASLSS
1:148023129-148023129 C>G	1.0	4037	LUNG	-	rs202128472	-	-	NBPF8	uc001eqe.3,p.R67T|uc001eqg.3,p.R67T	protein_coding	uc001eqg.3	nonsynonymous SNV	exon5	c.G200C	p.R67T	WLRKCRNRLPPGRCRRLKKRKSLRT	WLRKCRNRLPPGTCRRLKKRKSLRT	7.0	10.0	unscreened	-	4037_1:148023129-148023129 C>G_WLRKCRNRLPPGTCRRLKKRKSLRT
2:11375866-11375866 T>G	1.0	4037	LUNG	-	-	-	-	ROCK2	ENST00000261535,p.K229Q|uc002rbd.1,p.K229Q|ENST00000315872,p.K229Q|NM_004850,p.K229Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002rbd.1	nonsynonymous SNV	exon5	c.A685C	p.K229Q	PDNMLLDKHGHLKLADFGTCMKMDE	PDNMLLDKHGHLQLADFGTCMKMDE	7.0	3.0	unscreened	-	4037_2:11375866-11375866 T>G_PDNMLLDKHGHLQLADFGTCMKMDE
22:23523832-23523832 C>-	1.0	4037	LUNG	-	-	-	1	BCR	uc002zwx.3,p.P229fs|ENST00000398512,p.P229fs|NM_004327,p.P229fs|NM_021574,p.P229fs|ENST00000305877,p.P229fs|uc002zww.3,p.P229fs|ENST00000359540,p.P229fs	retained_intron, protein_coding, processed_transcript	uc002zwx.3	frameshift deletion	exon1	c.685delC	p.P229fs	HGAGSSVGDASRPPYRGRSSESSCG	HGAGSSVGDASRPLTGDAPRRAAAASTATTRTPS	7.0	10.0	unscreened	-	4037_22:23523832-23523832 C>-_HGAGSSVGDASRPLTGDAPRRAAAASTATTRTPS
5:86659270-86659270 T>C	1.0	4037	LUNG	-	-	-	-	RASA1	uc003kiw.3,p.I520T|ENST00000515800,p.I520T|uc003kix.3,p.I343T|ENST00000512763,p.I353T|uc011ctw.2,p.I354T|NM_002890,p.I520T|ENST00000506290,p.I354T|NM_022650,p.I343T|ENST00000274376,p.I520T|uc010jaw.3,p.I342T|ENST00000456692,p.I343T|uc011ctv.2,p.I353T	retained_intron, protein_coding, nonsense_mediated_decay	uc011ctw.2	nonsynonymous SNV	exon12	c.T1061C	p.I354T	ESEKRATKPKGLIDLSVCSVYVVHD	ESEKRATKPKGLTDLSVCSVYVVHD	6.0	9.0	-	-	4037_5:86659270-86659270 T>C_ESEKRATKPKGLTDLSVCSVYVVHD
1:28858494-28858494 A>C	1.0	4037	LUNG	-	-	-	-	RCC1	uc001bqg.2,p.S85R|ENST00000430407,p.S85R|ENST00000411533,p.S102R|NM_001269,p.S85R|NM_001048195,p.S102R|uc001bqb.2,p.S85R|NM_001048194,p.S116R|NM_001048199,p.S85R|uc001bqa.2,p.S85R|ENST00000373833,p.S85R|ENST00000419074,p.S85R|ENST00000373831,p.S116R|uc001bqf.2,p.S116R|uc001bqc.2,p.S85R|ENST00000427469,p.S85R|ENST00000373832,p.S85R|ENST00000398958,p.S85R|ENST00000434290,p.S93R|uc001bqe.2,p.S102R	retained_intron, protein_coding, nonsense_mediated_decay	uc001bqg.2	nonsynonymous SNV	exon3	c.A253C	p.S85R	EAGGMHTVCLSKSGQVYSFGCNDEG	EAGGMHTVCLSKRGQVYSFGCNDEG	9.0	6.0	-	-	4037_1:28858494-28858494 A>C_EAGGMHTVCLSKRGQVYSFGCNDEG
17:62131650-62131650 T>C	1.0	4037	LUNG	-	-	-	-	ERN1	NM_001433,p.Q638R|ENST00000433197,p.Q638R|uc002jdz.2,p.Q638R	retained_intron, protein_coding, processed_transcript	uc002jdz.2	nonsynonymous SNV	exon15	c.A1913G	p.Q638R	IRYFCTEKDRQFQYIAIELCAATLQ	IRYFCTEKDRQFRYIAIELCAATLQ	6.0	2.0	unscreened	-	4037_17:62131650-62131650 T>C_IRYFCTEKDRQFRYIAIELCAATLQ
9:35707087-35707087 T>G	0.0	4037	LUNG	-	-	-	-	TLN1	ENST00000314888,p.K1646T|NM_006289,p.K1646T|uc003zxt.2,p.K1646T|ENST00000540444,p.K1646T	retained_intron, protein_coding, processed_transcript	uc003zxt.2	nonsynonymous SNV	exon37	c.A4937C	p.K1646T	AGHSRTVSDSIKKLITSMRDKAPGQ	AGHSRTVSDSIKTLITSMRDKAPGQ	9.0	3.0	unscreened	-	4037_9:35707087-35707087 T>G_AGHSRTVSDSIKTLITSMRDKAPGQ
16:47675561-47675561 A>C	1.0	4037	LUNG	-	-	-	-	PHKB	NM_000293,p.Q522H|uc002eeu.4,p.Q515H|ENST00000299167,p.Q522H|NM_001031835,p.Q515H|ENST00000455779,p.Q515H|ENST00000323584,p.Q522H|ENST00000566044,p.Q515H|uc002eev.4,p.Q522H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002eev.4	nonsynonymous SNV	exon16	c.A1566C	p.Q522H	LNTYGIQTQTPQQVEPIQIWPQQEL	LNTYGIQTQTPQHVEPIQIWPQQEL	8.0	8.0	unscreened	-	4037_16:47675561-47675561 A>C_LNTYGIQTQTPQHVEPIQIWPQQEL
11:68367945-68367945 G>C	1.0	4037	LUNG	-	-	-	-	PPP6R3	uc001onu.3,p.E645D|ENST00000529710,p.E645D|NM_001164160,p.E725D|NM_018312,p.E645D|NM_001164161,p.E725D|uc001onv.3,p.E725D|NM_001164162,p.E719D|ENST00000527403,p.E690D|uc001onw.3,p.E725D|uc001onz.3,p.E53D|NM_001164163,p.E696D|uc001ony.4,p.E696D|ENST00000524904,p.E719D|NM_001164164,p.E645D|uc001ooa.3,p.E175D|ENST00000265637,p.E679D|ENST00000534534,p.E493D|ENST00000524845,p.E696D|uc010rqd.2,p.E408D|ENST00000393801,p.E725D|ENST00000393800,p.E725D|uc009ysh.3,p.E645D|uc010rqc.2,p.E493D|ENST00000393799,p.E725D|ENST00000265636,p.E645D|ENST00000534190,p.E432D|uc001onx.3,p.E719D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rqd.2	nonsynonymous SNV	exon12	c.G1224C	p.E408D	MPTKETGWASFSEFTSSLSTKDSLR	MPTKETGWASFSDFTSSLSTKDSLR	9.0	6.0	-	-	4037_11:68367945-68367945 G>C_MPTKETGWASFSDFTSSLSTKDSLR
1:149858865-149858865 C>G	0.0	4037	LUNG	-	-	-	-	HIST2H2AC	uc001etd.3,p.A114G|NM_003517,p.A114G|ENST00000331380,p.A114G	protein_coding	uc001etd.3	nonsynonymous SNV	exon1	c.C341G	p.A114G	TIAQGGVLPNIQAVLLPKKTESHKA	TIAQGGVLPNIQGVLLPKKTESHKA	6.0	5.0	unscreened	-	4037_1:149858865-149858865 C>G_TIAQGGVLPNIQGVLLPKKTESHKA
7:91632065-91632065 T>C	1.0	4037	LUNG	-	-	-	2	AKAP9	uc003ulf.3,p.L945P|uc003ulg.3,p.L945P|ENST00000359028,p.L957P|NM_147185,p.L945P|uc003uli.3,p.L570P|ENST00000358100,p.L957P|ENST00000356239,p.L945P|uc003ule.2,p.L957P|NM_005751,p.L945P	retained_intron, protein_coding, processed_transcript	uc003uli.3	nonsynonymous SNV	exon1	c.T1709C	p.L570P	VVEKDTTELMEKLEVTKREKLELSQ	VVEKDTTELMEKPEVTKREKLELSQ	6.0	6.0	unscreened	-	4037_7:91632065-91632065 T>C_VVEKDTTELMEKPEVTKREKLELSQ
8:101721933-101721933 T>-	0.0	4037	LUNG	-	-	-	2	PABPC1	uc011lhc.1,p.K301fs|uc003yjs.1,p.K333fs|uc003yjt.1,p.K330fs|uc011lhd.1,p.K288fs|ENST00000519004,p.K288fs|ENST00000318607,p.K333fs|ENST00000522387,p.K301fs|NM_002568,p.K333fs	retained_intron, protein_coding, nonsense_mediated_decay	uc011lhd.1	frameshift deletion	exon9	c.864delA	p.K288fs	TSAKVMMEGGRSKGFGFVCFSSPEE	TSAKVMMEGGRSKGLVLYVSPPQKKPLKQLQK	10.0	6.0	unscreened	-	4037_8:101721933-101721933 T>-_TSAKVMMEGGRSKGLVLYVSPPQKKPLKQLQK
1:206821964-206821964 A>T	0.0	4037	LUNG	-	-	-	-	DYRK3	ENST00000367109,p.K474M|ENST00000367106,p.K454M|uc001hei.3,p.K454M|NM_003582,p.K474M|ENST00000367108,p.K454M|NM_001004023,p.K454M|uc001hej.3,p.K474M	protein_coding, processed_transcript	uc001hej.3	nonsynonymous SNV	exon3	c.A1421T	p.K474M	VVLVGGRSRRGKKRGPPGSKDWGTA	VVLVGGRSRRGKMRGPPGSKDWGTA	7.0	5.0	unscreened	-	4037_1:206821964-206821964 A>T_VVLVGGRSRRGKMRGPPGSKDWGTA
19:10472262-10472262 T>A	1.0	4037	LUNG	-	-	-	-	TYK2	ENST00000529370,p.T658S|NM_003331,p.T658S|ENST00000524462,p.T473S|uc010dxe.3,p.T473S|ENST00000264818,p.T658S|uc002mod.2,p.T658S|uc002moc.4,p.T658S|ENST00000525621,p.T658S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dxe.3	nonsynonymous SNV	exon10	c.A1417T	p.T473S	PSHHDIALAFYETASLMSQVSHTHL	PSHHDIALAFYESASLMSQVSHTHL	10.0	9.0	unscreened	-	4037_19:10472262-10472262 T>A_PSHHDIALAFYESASLMSQVSHTHL
18:24035751-24035751 G>A	1.0	4037	LUNG	-	-	-	-	KCTD1	uc031rht.1,p.R244C|uc010xbj.3,p.R852C|ENST00000408011,p.R244C|NM_001142730,p.R852C|uc002kvw.4,p.R244C|uc010xbk.3,p.R244C|NM_001258222,p.R252C|uc031rhu.1,p.R252C|ENST00000317932,p.R244C|NM_001258221,p.R244C|ENST00000579973,p.R244C|ENST00000417602,p.R852C|ENST00000580059,p.R244C|NM_198991,p.R244C|NM_001136205,p.R244C	retained_intron, protein_coding, processed_transcript	uc031rhu.1	nonsynonymous SNV	exon5	c.C754T	p.R252C	EYVLRRELRRTPRVPSVIRIKQEPL	EYVLRRELRRTPCVPSVIRIKQEPL	9.0	9.0	-	-	4037_18:24035751-24035751 G>A_EYVLRRELRRTPCVPSVIRIKQEPL
2:174227972-174227972 G>A	1.0	4037	LUNG	-	-	-	-	CDCA7	uc010zej.1,p.E91K|uc002uic.1,p.E135K|ENST00000306721,p.E135K|NM_031942,p.E135K|ENST00000410101,p.E91K	retained_intron, protein_coding, nonsense_mediated_decay	uc010zej.1	nonsynonymous SNV	exon4	c.G271A	p.E91K	EIQDGMRLQSVREGCRTRSQCRHSG	EIQDGMRLQSVRKGCRTRSQCRHSG	7.0	10.0	unscreened	-	4037_2:174227972-174227972 G>A_EIQDGMRLQSVRKGCRTRSQCRHSG
3:128356715-128356715 T>C	1.0	4037	LUNG	-	-	-	1	RPN1	ENST00000296255,p.K187R|uc011bkq.1,p.K15R|uc003ekr.1,p.K187R|NM_002950,p.K187R|ENST00000497289,p.K15R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bkq.1	nonsynonymous SNV	exon3	c.A44G	p.K15R	VKLASRNVESYTKLGNPTRSEDLLD	VKLASRNVESYTRLGNPTRSEDLLD	10.0	2.0	unscreened	-	4037_3:128356715-128356715 T>C_VKLASRNVESYTRLGNPTRSEDLLD
22:38202043-38202043 A>C	1.0	4037	LUNG	-	-	-	-	H1F0	uc003aty.3,p.K164N|NM_005318,p.K164N|ENST00000340857,p.K164N	protein_coding	uc003aty.3	nonsynonymous SNV	exon1	c.A492C	p.K164N	ATPKKAKKPKTVKAKPVKASKPKKA	ATPKKAKKPKTVNAKPVKASKPKKA	10.0	8.0	unscreened	-	4037_22:38202043-38202043 A>C_ATPKKAKKPKTVNAKPVKASKPKKA
4:37904006-37904006 A>T	0.0	4037	LUNG	-	-	-	-	TBC1D1	ENST00000402522,p.K97M|NM_001253912,p.K97M|uc003gtb.3,p.K97M|ENST00000508802,p.K97M|uc011byd.2,p.K97M|ENST00000261439,p.K97M|NM_015173,p.K97M	retained_intron, protein_coding, processed_transcript	uc011byd.2	nonsynonymous SNV	exon2	c.A290T	p.K97M	WDPLIYSSIFECKPQRVHKLIHNSH	WDPLIYSSIFECMPQRVHKLIHNSH	8.0	6.0	unscreened	-	4037_4:37904006-37904006 A>T_WDPLIYSSIFECMPQRVHKLIHNSH
22:32289694-32289694 A>C	0.0	4037	LUNG	-	-	-	-	DEPDC5	NM_001242896,p.K1387T|uc003alu.3,p.K805T|ENST00000539165,p.K204T|NM_001136029,p.K1378T|ENST00000535622,p.K1287T|ENST00000266091,p.K1365T|uc011alx.2,p.K204T|ENST00000400246,p.K1387T|uc003alt.3,p.K1378T|uc003alw.3,p.K654T|uc011als.2,p.K1287T|NM_014662,p.K1356T|ENST00000382111,p.K1387T|uc011aly.2,p.K204T|uc010gwk.3,p.K382T|uc003als.3,p.K1356T|ENST00000400249,p.K1356T|NM_001242897,p.K1287T|ENST00000382112,p.K1378T|ENST00000400248,p.K1356T|uc011alu.2,p.K1387T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011aly.2	nonsynonymous SNV	exon8	c.A611C	p.K204T	HGNFSLNAAFEIKLHWMAVTAAVLF	HGNFSLNAAFEITLHWMAVTAAVLF	5.0	6.0	unscreened	-	4037_22:32289694-32289694 A>C_HGNFSLNAAFEITLHWMAVTAAVLF
5:169031144-169031144 A>G	1.0	4037	LUNG	-	-	-	-	SPDL1	ENST00000265295,p.K584R|uc003mae.4,p.K584R|uc010jjk.3,p.K310R|uc011deq.2,p.K401R|NM_017785,p.K584R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011deq.2	nonsynonymous SNV	exon11	c.A1202G	p.K401R	KETSSKLEKETCKKLHPILYVSSKS	KETSSKLEKETCRKLHPILYVSSKS	7.0	8.0	unscreened	-	4037_5:169031144-169031144 A>G_KETSSKLEKETCRKLHPILYVSSKS
20:19937401-19937401 A>G	0.0	4037	LUNG	-	-	-	-	RIN2	uc002wro.2,p.S150G|ENST00000255006,p.S150G|ENST00000440354,p.S101G|uc010gcu.2,p.S101G|NM_018993,p.S101G|NM_001242581,p.S150G	protein_coding, processed_transcript	uc010gcu.2	nonsynonymous SNV	exon3	c.A301G	p.S101G	RLLHTHPIWLQLSLSEEEAAEVLQA	RLLHTHPIWLQLGLSEEEAAEVLQA	7.0	1.0	unscreened	-	4037_20:19937401-19937401 A>G_RLLHTHPIWLQLGLSEEEAAEVLQA
3:121415367-121415367 T>G	1.0	4037	LUNG	-	-	-	-	GOLGB1	NM_001256486,p.S1335R|uc003eej.5,p.S1296R|NM_001256487,p.S1296R|ENST00000494517,p.S1294R|NM_001256488,p.S1255R|ENST00000393667,p.S1335R|ENST00000340645,p.S1330R|uc010hrc.4,p.S1335R|uc003eei.5,p.S1330R|NM_004487,p.S1330R|uc010hrd.2,p.S1294R|uc021xcy.2,p.S1255R|uc011bjm.1,p.S1216R	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xcy.2	nonsynonymous SNV	exon12	c.A3763C	p.S1255R	KVELELKVSSTTSELTKKSEEVFQL	KVELELKVSSTTRELTKKSEEVFQL	10.0	3.0	unscreened	-	4037_3:121415367-121415367 T>G_KVELELKVSSTTRELTKKSEEVFQL
1:167887585-167887585 T>G	1.0	4037	LUNG	-	-	-	-	MPC2	ENST00000271373,p.E120D|NM_001143674,p.E120D|uc001get.3,p.E120D|uc001geu.3,p.E120D|ENST00000367846,p.E120D|NM_015415,p.E120D|uc001ges.3,p.E120D	protein_coding	uc001geu.3	nonsynonymous SNV	exon6	c.A360C	p.E120D	ASQLFRIWRYNQELKAKAHK	ASQLFRIWRYNQDLKAKAHK	9.0	6.0	unscreened	-	4037_1:167887585-167887585 T>G_ASQLFRIWRYNQDLKAKAHK
1:154574007-154574008 TG>-	1.0	4037	LUNG	-	-	-	-	ADAR	NM_001193495,p.N75fs|uc001ffj.3,p.N370fs|ENST00000368471,p.N75fs|uc001ffl.1,p.N75fs|uc021pag.1,p.N75fs|ENST00000368474,p.N370fs|NM_001111,p.N370fs|uc001ffk.3,p.N75fs|uc001ffh.3,p.N370fs|NM_015840,p.N370fs|ENST00000529168,p.N365fs|ENST00000292205,p.N413fs|NM_001025107,p.N75fs|NM_015841,p.N370fs|uc001ffi.3,p.N370fs	retained_intron, protein_coding, processed_transcript	uc021pag.1	frameshift deletion	exon2	c.225_226del	p.N75fs	KKRERMQIKRNTNSVPETAPAAIPE	KKRERMQIKRNTKCS	10.0	3.0	unscreened	-	4037_1:154574007-154574008 TG>-_KKRERMQIKRNTKCS
11:4104197-4104197 A>C	1.0	4037	LUNG	-	-	ID=COSM1227851;OCCURENCE=1(large_intestine)	-	STIM1	uc021qco.1,p.K408T|NM_003156,p.K408T|uc009yeg.2,p.K235T|uc009yef.2,p.K408T|NM_001277962,p.K408T|NM_001277961,p.K408T|uc001lyv.2,p.K408T|ENST00000527651,p.K408T|ENST00000300737,p.K408T|ENST00000533977,p.K235T	retained_intron, protein_coding, processed_transcript	uc021qco.1	nonsynonymous SNV	exon9	c.A1223C	p.K408T	VAHSSSLDDVDHKILTAKQALSEVT	VAHSSSLDDVDHTILTAKQALSEVT	9.0	1.0	unscreened	-	4037_11:4104197-4104197 A>C_VAHSSSLDDVDHTILTAKQALSEVT
9:20770088-20770088 A>C	0.0	4037	LUNG	-	-	-	-	FOCAD	uc003zog.1,p.S253R|ENST00000380249,p.S253R|ENST00000338382,p.S253R|NM_017794,p.S253R	protein_coding	uc003zog.1	nonsynonymous SNV	exon10	c.A757C	p.S253R	TEAMMFIEEVCLSLLRHPVFWKIQL	TEAMMFIEEVCLRLLRHPVFWKIQL	6.0	6.0	unscreened	-	4037_9:20770088-20770088 A>C_TEAMMFIEEVCLRLLRHPVFWKIQL
21:44478278-44478278 C>A	1.0	4037	LUNG	-	-	-	-	CBS	uc002zcs.1,p.V377F|ENST00000398165,p.V482F|uc002zcu.2,p.V482F|uc002zct.2,p.V482F|ENST00000359624,p.V482F|uc002zcw.3,p.V482F|NM_001178009,p.V482F|ENST00000544202,p.V394F|ENST00000398158,p.V482F|ENST00000398168,p.V482F|ENST00000352178,p.V482F|NM_001178008,p.V482F|uc002zcv.2,p.V482F|NM_000071,p.V482F	retained_intron, protein_coding, processed_transcript	uc002zcw.3	nonsynonymous SNV	exon15	c.G1444T	p.V482F	AGKVQPSDQVGKVIYKQFKQIRLTD	AGKVQPSDQVGKFIYKQFKQIRLTD	6.0	10.0	-	-	4037_21:44478278-44478278 C>A_AGKVQPSDQVGKFIYKQFKQIRLTD
22:29736683-29736683 C>T	1.0	4037	LUNG	-	-	-	-	AP1B1	uc011ako.2,p.G207R|uc003afj.3,p.G654R|NM_001166019,p.G654R|NM_145730,p.G654R|NM_001127,p.G654R|ENST00000357586,p.G654R|ENST00000402502,p.G654R|ENST00000415447,p.G654R|ENST00000432560,p.G654R|ENST00000405198,p.G654R|uc003afl.3,p.G654R|ENST00000317368,p.G654R|uc003afi.3,p.G654R|ENST00000356015,p.G654R	retained_intron, protein_coding, processed_transcript	uc011ako.2	nonsynonymous SNV	exon5	c.G619A	p.G207R	SGPPLATSSVQMGAVDLLGGGLDSL	SGPPLATSSVQMRAVDLLGGGLDSL	9.0	9.0	-	-	4037_22:29736683-29736683 C>T_SGPPLATSSVQMRAVDLLGGGLDSL
8:101724623-101724623 ->A	0.0	4037	LUNG	-	-	-	2	PABPC1	uc011lhc.1,p.E281fs|ENST00000519004,p.E268fs|uc011lhd.1,p.E268fs|ENST00000318607,p.E313fs|ENST00000522387,p.E281fs|uc003yjs.1,p.E313fs|uc003yjt.1,p.E310fs|NM_002568,p.E313fs	retained_intron, protein_coding, nonsense_mediated_decay	uc011lhd.1	frameshift insertion	exon8	c.803_804insT	p.E268fs	LDDGIDDERLRKEFSPFGTITSAKV	LDDGIDDERLRKDVFSIWYNH	10.0	9.0	unscreened	-	4037_8:101724623-101724623 ->A_LDDGIDDERLRKDVFSIWYNH
8:56985681-56985681 C>T	1.0	4037	LUNG	-	-	-	-	RPS20	ENST00000521262,p.V110I|NM_001023,p.V110I|ENST00000520627,p.V55I|uc003xsn.2,p.V110I|ENST00000524349,p.V55I|ENST00000009589,p.V110I	retained_intron, protein_coding, processed_transcript	uc003xsn.2	nonsynonymous SNV	exon4	c.G328A	p.V110I	VKQITSISIEPGVEVEVTIADA	VKQITSISIEPGIEVEVTIADA	10.0	3.0	unscreened	-	4037_8:56985681-56985681 C>T_VKQITSISIEPGIEVEVTIADA
1:221875857-221875857 A>C	0.0	4037	LUNG	-	-	-	-	DUSP10	ENST00000366899,p.L449R|uc001hmz.2,p.L107R|uc001hmy.2,p.L449R|uc001hmx.2,p.L107R|ENST00000544095,p.L107R|ENST00000323825,p.L107R|NM_007207,p.L449R	protein_coding, processed_transcript	uc001hmz.2	nonsynonymous SNV	exon3	c.T320G	p.L107R	FVKGKRPIISPNLNFMGQLLEFEED	FVKGKRPIISPNRNFMGQLLEFEED	6.0	4.0	unscreened	-	4037_1:221875857-221875857 A>C_FVKGKRPIISPNRNFMGQLLEFEED
8:145620125-145620125 T>A	1.0	4037	LUNG	-	-	-	-	CPSF1	ENST00000349769,p.Q1129L|uc003zcj.3,p.Q1129L|NM_013291,p.Q1129L	retained_intron, protein_coding, processed_transcript	uc003zcj.3	nonsynonymous SNV	exon30	c.A3386T	p.Q1129L	LKGYVAAGTCLMQGEEVTCRGRILI	LKGYVAAGTCLMLGEEVTCRGRILI	10.0	1.0	unscreened	-	4037_8:145620125-145620125 T>A_LKGYVAAGTCLMLGEEVTCRGRILI
19:1012164-1012164 C>T	0.0	4037	LUNG	-	-	-	-	TMEM259	uc002lqr.1,p.G248R|NM_033420,p.G248R|ENST00000333175,p.G248R|NM_001033026,p.G248R|uc002lqs.1,p.G248R|ENST00000356663,p.G248R|ENST00000607316,p.G79R	retained_intron, protein_coding, processed_transcript	uc002lqs.1	nonsynonymous SNV	exon5	c.G742A	p.G248R	VVTLDPTRDQCFGDRFSRLLLDEFL	VVTLDPTRDQCFRDRFSRLLLDEFL	10.0	9.0	unscreened	-	4037_19:1012164-1012164 C>T_VVTLDPTRDQCFRDRFSRLLLDEFL
11:47505984-47505984 A>C	1.0	4037	LUNG	-	-	-	-	CELF1	NM_001172640,p.I133M|uc001nfm.3,p.I134M|uc001nfl.3,p.I134M|NM_001025596,p.I134M|ENST00000531165,p.I161M|ENST00000395290,p.I133M|uc001nfp.3,p.I161M|uc001nfr.1,p.I134M|ENST00000361904,p.I134M|uc001nfn.3,p.I134M|uc001nfk.2,p.I160M|ENST00000310513,p.I134M|ENST00000358597,p.I134M|ENST00000395292,p.I134M|ENST00000532048,p.I160M|NM_006560,p.I134M|NM_198700,p.I134M|NM_001172639,p.I160M|uc010rhm.2,p.I133M	retained_intron, protein_coding, processed_transcript	uc010rhm.2	nonsynonymous SNV	exon4	c.T399G	p.I133M	NDIRVMFSSFGQIEECRILRGPDGL	NDIRVMFSSFGQMEECRILRGPDGL	9.0	10.0	-	-	4037_11:47505984-47505984 A>C_NDIRVMFSSFGQMEECRILRGPDGL
14:23243202-23243202 A>T	0.0	4037	LUNG	-	-	-	-	SLC7A7	uc001wgu.4,p.Y457N|uc001wgv.4,p.Y457N|uc001wgs.4,p.Y457N|NM_001126106,p.Y457N|uc001wgr.4,p.Y457N|NM_001126105,p.Y457N|ENST00000555702,p.Y457N|ENST00000397532,p.Y457N|ENST00000397529,p.Y457N|ENST00000554517,p.Y191N|uc001wgt.4,p.Y457N|ENST00000397528,p.Y457N|ENST00000285850,p.Y457N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wgv.4	nonsynonymous SNV	exon9	c.T1369A	p.Y457N	IGIAIALSGLPFYFLIIRVPEHKRP	IGIAIALSGLPFNFLIIRVPEHKRP	8.0	9.0	unscreened	-	4037_14:23243202-23243202 A>T_IGIAIALSGLPFNFLIIRVPEHKRP
11:64138899-64138899 G>A	1.0	4037	LUNG	-	-	-	-	RPS6KA4	ENST00000528057,p.V749I|uc001oae.3,p.V756I|uc009ypp.3,p.V508I|NM_001300802,p.V749I|uc001oaf.3,p.V749I|NM_001006944,p.V750I|uc010rnl.2,p.V693I|uc001oad.3,p.V750I|ENST00000294261,p.V508I|ENST00000334205,p.V756I|NM_003942,p.V756I	retained_intron, protein_coding, nonsense_mediated_decay	uc010rnl.2	nonsynonymous SNV	exon17	c.G2077A	p.V693I	GSPAPANPGRAPVASKGAPRRANGP	GSPAPANPGRAPIASKGAPRRANGP	7.0	9.0	unscreened	-	4037_11:64138899-64138899 G>A_GSPAPANPGRAPIASKGAPRRANGP
2:135180489-135180489 A>C	1.0	4037	LUNG	-	-	-	-	MGAT5	ENST00000281923,p.K598T|uc002ttw.4,p.K598T|ENST00000409645,p.K598T|NM_002410,p.K598T	protein_coding, processed_transcript	uc002ttw.4	nonsynonymous SNV	exon13	c.A1793C	p.K598T	EVEDAVKAILNQKIEPYMPYEFTCE	EVEDAVKAILNQTIEPYMPYEFTCE	9.0	7.0	-	-	4037_2:135180489-135180489 A>C_EVEDAVKAILNQTIEPYMPYEFTCE
12:56360842-56360842 T>G	0.0	4037	LUNG	-	-	-	-	CDK2	ENST00000555357,p.V17G|ENST00000553376,p.V17G|NM_001798,p.V17G|uc010spy.2,p.V17G|uc001sit.4,p.V17G|NM_001290230,p.V17G|ENST00000440311,p.V17G|ENST00000555408,p.V17G|ENST00000354056,p.V17G|NM_052827,p.V17G|ENST00000266970,p.V17G|uc001siu.4,p.V17G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010spy.2	nonsynonymous SNV	exon1	c.T50G	p.V17G	QKVEKIGEGTYGVVYKARNKLTGEV	QKVEKIGEGTYGGVYKARNKLTGEV	8.0	4.0	unscreened	-	4037_12:56360842-56360842 T>G_QKVEKIGEGTYGGVYKARNKLTGEV
16:840229-840229 G>T	1.0	4037	LUNG	-	-	-	-	CHTF18	ENST00000317063,p.G417V|NM_022092,p.G220V|ENST00000455171,p.G248V|uc002cke.4,p.G220V|uc002ckf.4,p.G248V|ENST00000440239,p.G221V|ENST00000262315,p.G220V|uc010uus.1,p.G220V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uus.1	nonsynonymous SNV	exon5	c.G659T	p.G220V	VPWRGGGQLDLLGVSLASLKKQVDG	VPWRGGGQLDLLVVSLASLKKQVDG	7.0	10.0	unscreened	-	4037_16:840229-840229 G>T_VPWRGGGQLDLLVVSLASLKKQVDG
2:85780456-85780456 T>C	1.0	4037	LUNG	-	-	-	-	GGCX	NM_000821,p.S352G|uc010yss.2,p.S191G|uc010yst.2,p.S295G|ENST00000430215,p.S295G|NM_001142269,p.S295G|ENST00000233838,p.S352G|uc002sps.3,p.S352G	protein_coding, processed_transcript, nonsense_mediated_decay	uc010yst.2	nonsynonymous SNV	exon7	c.A883G	p.S295G	SVSCVYKRSRGKSGQKPGLRHQLGA	SVSCVYKRSRGKGGQKPGLRHQLGA	9.0	7.0	unscreened	-	4037_2:85780456-85780456 T>C_SVSCVYKRSRGKGGQKPGLRHQLGA
1:117504039-117504039 T>A	1.0	4037	LUNG	-	-	-	-	PTGFRN	NM_020440,p.L463Q|uc001egv.1,p.L463Q|ENST00000393203,p.L463Q	protein_coding, processed_transcript	uc001egv.1	nonsynonymous SNV	exon5	c.T1388A	p.L463Q	MNRRSDNVVTSELLAVMDGDWTLKY	MNRRSDNVVTSEQLAVMDGDWTLKY	9.0	1.0	unscreened	-	4037_1:117504039-117504039 T>A_MNRRSDNVVTSEQLAVMDGDWTLKY
1:148023129-148023129 C>G	1.0	4037	LUNG	-	rs202128472	-	-	NBPF8	uc001eqf.4,p.E461D|ENST00000369219,p.E121D|uc001eqq.3,p.E121D|NM_001037501,p.E461D	protein_coding	uc001eqq.3	nonsynonymous SNV	exon4	c.G363C	p.E121D	VAEKVQKSSAPREMQKAEEKEVPED	VAEKVQKSSAPRDMQKAEEKEVPED	7.0	10.0	unscreened	-	4037_1:148023129-148023129 C>G_VAEKVQKSSAPRDMQKAEEKEVPED
9:35717634-35717634 T>G	1.0	4037	LUNG	-	-	-	-	TLN1	ENST00000314888,p.Q715H|NM_006289,p.Q715H|uc003zxt.2,p.Q715H|ENST00000540444,p.Q715H	retained_intron, protein_coding, processed_transcript	uc003zxt.2	nonsynonymous SNV	exon18	c.A2145C	p.Q715H	IAAATQCALSTSQLVACTKVVAPTI	IAAATQCALSTSHLVACTKVVAPTI	9.0	1.0	unscreened	-	4037_9:35717634-35717634 T>G_IAAATQCALSTSHLVACTKVVAPTI
11:64884079-64884079 T>G	1.0	4037	LUNG	-	-	-	-	ZNHIT2	uc001ocw.3,p.E349D|NM_014205,p.E349D|ENST00000310597,p.E349D	protein_coding	uc001ocw.3	nonsynonymous SNV	exon1	c.A1047C	p.E349D	RKKCQFLLAWTNENEAALTPLALDC	RKKCQFLLAWTNDNEAALTPLALDC	8.0	10.0	unscreened	-	4037_11:64884079-64884079 T>G_RKKCQFLLAWTNDNEAALTPLALDC
7:99077296-99077296 T>G	1.0	4037	LUNG	-	-	-	-	ZNF789	uc003uqp.3,p.F13V|ENST00000379724,p.F13V|NM_213603,p.F13V|uc003uqq.1,p.F13V|ENST00000331410,p.F13V|NM_001013258,p.F13V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uqq.1	nonsynonymous SNV	exon3	c.T37G	p.F13V	MFPPARGKELLSFEDVAMYFTREEW	MFPPARGKELLSVEDVAMYFTREEW	5.0	2.0	unscreened	-	4037_7:99077296-99077296 T>G_MFPPARGKELLSVEDVAMYFTREEW
11:9853776-9853776 T>G	0.0	4037	LUNG	-	-	-	-	SBF2	ENST00000256190,p.Q1216P|NM_030962,p.Q1216P|uc001mib.2,p.Q1216P	retained_intron, protein_coding, processed_transcript	uc001mib.2	nonsynonymous SNV	exon27	c.A3647C	p.Q1216P	GVVGLFKSQNSPQAAPTSSLESSSS	GVVGLFKSQNSPPAAPTSSLESSSS	6.0	5.0	unscreened	-	4037_11:9853776-9853776 T>G_GVVGLFKSQNSPPAAPTSSLESSSS
1:156215605-156215605 A>G	0.0	4037	LUNG	-	-	-	-	PAQR6	uc010phg.2,p.L115P|uc001fnv.2,p.L94P|NM_001272105,p.L115P|ENST00000540423,p.L115P|uc001fnu.2,p.L118P|NM_198406,p.L118P|ENST00000368270,p.L94P|uc010phh.2,p.L118P|ENST00000292291,p.L118P|NM_001272104,p.L118P	protein_coding, processed_transcript	uc010phh.2	nonsynonymous SNV	exon4	c.T353C	p.L118P	SMSPRMRHICYFLDYGALSLYSLGC	SMSPRMRHICYFPDYGALSLYSLGC	6.0	2.0	unscreened	-	4037_1:156215605-156215605 A>G_SMSPRMRHICYFPDYGALSLYSLGC
10:129906895-129906895 T>C	1.0	4037	LUNG	-	-	-	-	MKI67	NM_002417,p.E1070G|uc001lkf.3,p.E710G|NM_001145966,p.E710G|ENST00000368654,p.E1070G|ENST00000368653,p.E710G|uc009yav.1,p.E645G|uc009yaw.1,p.E220G|uc001lke.3,p.E1070G	protein_coding, processed_transcript	uc009yaw.1	nonsynonymous SNV	exon2	c.A659G	p.E220G	PAGDGKSIRTFKESPKQILDPAARV	PAGDGKSIRTFKGSPKQILDPAARV	9.0	4.0	unscreened	-	4037_10:129906895-129906895 T>C_PAGDGKSIRTFKGSPKQILDPAARV
8:145649463-145649463 A>C	1.0	4037	LUNG	-	-	-	-	VPS28	ENST00000377348,p.L170R|NM_016208,p.L170R|ENST00000292510,p.L170R|uc003zcs.1,p.L170R|ENST00000529182,p.L170R|ENST00000533806,p.L153R|uc003zct.1,p.L170R|ENST00000526054,p.L170R|NM_183057,p.L170R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zct.1	nonsynonymous SNV	exon9	c.T509G	p.L170R	RELMETMHRMSHLPPDFEGRQTVSQ	RELMETMHRMSHRPPDFEGRQTVSQ	10.0	5.0	unscreened	-	4037_8:145649463-145649463 A>C_RELMETMHRMSHRPPDFEGRQTVSQ
17:71282425-71282427 GAA>-	1.0	4037	LUNG	-	-	-	-	CDC42EP4	ENST00000335793,p.71_72del|NM_012121,p.71_72del|uc002jjn.3,p.71_72del|uc002jjo.3,p.71_72del|uc021ucn.1,p.71_72del	protein_coding, processed_transcript	uc021ucn.1	nonframeshift deletion	exon1	c.213_215del	p.71_72del	EPDGESLDEQPSSSSSKRSLLSRKF	EPDGESLDEQPSSSSKRSLLSRKFR	9.0	4.0	unscreened	-	4037_17:71282425-71282427 GAA>-_EPDGESLDEQPSSSSKRSLLSRKFR
17:74084585-74084585 A>G	1.0	4037	LUNG	-	-	-	-	EXOC7	ENST00000607838,p.I443T|NM_001145297,p.I471T|NM_001145298,p.I412T|uc002jqr.3,p.I389T|NM_001282313,p.I379T|ENST00000335146,p.I471T|uc010wsv.2,p.I379T|NM_001013839,p.I420T|uc002jqs.3,p.I471T|NM_001145299,p.I443T|ENST00000589210,p.I420T|ENST00000411744,p.I412T|uc002jqq.3,p.I420T|NM_015219,p.I389T|ENST00000467929,p.I379T|uc010dgv.2,p.I367T|uc010wsw.2,p.I443T|ENST00000405575,p.I443T|uc010wsx.2,p.I412T|ENST00000332065,p.I389T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wsx.2	nonsynonymous SNV	exon10	c.T1235C	p.I412T	NKLPGLITSMETIGAKALEDFADNI	NKLPGLITSMETTGAKALEDFADNI	9.0	9.0	-	-	4037_17:74084585-74084585 A>G_NKLPGLITSMETTGAKALEDFADNI
12:12976145-12976145 A>C	1.0	4037	LUNG	-	-	-	-	DDX47	uc001ray.3,p.K214N|uc009zhw.1,p.K214N|ENST00000544400,p.K151N|ENST00000352940,p.K214N|uc001rax.3,p.K214N|NM_201224,p.K214N|ENST00000358007,p.K214N|NM_016355,p.K214N|uc001rav.3,p.K214N	retained_intron, protein_coding, processed_transcript	uc009zhw.1	nonsynonymous SNV	exon7	c.A642C	p.K214N	FLFSATMTKKVQKLQRAALKNPVKC	FLFSATMTKKVQNLQRAALKNPVKC	8.0	3.0	unscreened	-	4037_12:12976145-12976145 A>C_FLFSATMTKKVQNLQRAALKNPVKC
14:68249965-68249965 A>C	0.0	4037	LUNG	-	-	-	-	ZFYVE26	uc001xka.2,p.S1302A|ENST00000347230,p.S1302A|ENST00000555452,p.S1302A|NM_015346,p.S1302A|uc001xkc.4,p.S1302A	retained_intron, protein_coding, nonsense_mediated_decay	uc001xkc.4	nonsynonymous SNV	exon21	c.T3904G	p.S1302A	SSPRDSSLPALTSSALAFLKSRSKL	SSPRDSSLPALTASALAFLKSRSKL	5.0	6.0	unscreened	-	4037_14:68249965-68249965 A>C_SSPRDSSLPALTASALAFLKSRSKL
17:78320444-78320444 A>C	1.0	4037	LUNG	-	-	-	1	RNF213	ENST00000582970,p.K2770T|ENST00000508628,p.K2819T|NM_001256071,p.K2770T|ENST00000336301,p.K843T|uc021uen.2,p.K2770T	retained_intron, protein_coding, processed_transcript	uc021uen.2	nonsynonymous SNV	exon29	c.A8309C	p.K2770T	CIELKIPLFLVGKPGSSKSLAKTIV	CIELKIPLFLVGTPGSSKSLAKTIV	9.0	6.0	unscreened	-	4037_17:78320444-78320444 A>C_CIELKIPLFLVGTPGSSKSLAKTIV
1:220232301-220232301 T>C	1.0	4037	LUNG	-	-	-	-	BPNT1	NM_006085,p.Q271R|ENST00000469520,p.Q271R|NM_001286151,p.Q216R|ENST00000322067,p.Q271R|uc001hma.3,p.Q271R|ENST00000544404,p.Q216R|uc010puh.2,p.Q235R|NM_001286150,p.Q235R|NM_001286149,p.Q216R|uc010pug.2,p.Q216R|ENST00000414869,p.Q235R	retained_intron, protein_coding, processed_transcript	uc010puh.2	nonsynonymous SNV	exon8	c.A704G	p.Q235R	GGKLTDIHGNVLQYHKDVKHMNSAG	GGKLTDIHGNVLRYHKDVKHMNSAG	8.0	2.0	unscreened	-	4037_1:220232301-220232301 T>C_GGKLTDIHGNVLRYHKDVKHMNSAG
17:80043004-80043004 C>T	1.0	4037	LUNG	-	-	-	-	FASN	uc002kdu.3,p.R1439Q|uc002kdw.1,p.R655Q|NM_004104,p.R1439Q|ENST00000306749,p.R1439Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kdw.1	nonsynonymous SNV	exon11	c.G1964A	p.R655Q	SLKGILADEDSSRPVWLKAINCATS	SLKGILADEDSSQPVWLKAINCATS	10.0	10.0	-	-	4037_17:80043004-80043004 C>T_SLKGILADEDSSQPVWLKAINCATS
1:11307929-11307929 T>C	1.0	4037	LUNG	-	-	-	1	MTOR	ENST00000361445,p.T355A|NM_004958,p.T355A|uc001asd.3,p.T355A	protein_coding, processed_transcript	uc001asd.3	nonsynonymous SNV	exon7	c.A1063G	p.T355A	MGFGTSPSPAKSTLVESRCCRDLME	MGFGTSPSPAKSALVESRCCRDLME	6.0	9.0	unscreened	-	4037_1:11307929-11307929 T>C_MGFGTSPSPAKSALVESRCCRDLME
17:61908182-61908186 ATGGA>-	0.0	4037	LUNG	-	-	-	-	PSMC5	NM_002805,p.Y189fs|uc010ddy.3,p.Y166fs|uc002jcb.3,p.Y189fs|ENST00000579708,p.Y112fs|ENST00000584320,p.Y181fs|ENST00000582130,p.Y170fs|ENST00000581842,p.Y181fs|ENST00000580864,p.Y181fs|uc002jcd.3,p.Y181fs|NM_001199163,p.Y181fs|ENST00000375812,p.Y181fs|ENST00000310144,p.Y189fs|ENST00000585123,p.Y181fs|ENST00000581882,p.Y181fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ddy.3	frameshift deletion	exon6	c.497_501del	p.Y166fs	ALGIAQPKGVLLYGPPGTGKTLLAR	ALGIAQPKGVLLSSRHWEDTVGPGCGSSYGLYLYSCLWL	10.0	4.0	unscreened	-	4037_17:61908182-61908186 ATGGA>-_ALGIAQPKGVLLSSRHWEDTVGPGCGSSYGLYLYSCLWL
7:99077296-99077296 T>G	1.0	4037	LUNG	-	-	-	-	ZNF789	ENST00000493485,p.F6V|ENST00000448667,p.F6V|ENST00000483089,p.F6V|ENST00000447047,p.F6V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000493485	nonsynonymous SNV	exon4	c.T16G	p.F6V	MELLSFEDVAMYFTREEW	MELLSVEDVAMYFTREEW	5.0	2.0	unscreened	-	4037_7:99077296-99077296 T>G_MELLSVEDVAMYFTREEW
12:42592983-42592983 T>C	0.0	4037	LUNG	-	-	-	-	YAF2	ENST00000380788,p.K27R|uc010sko.2,p.K27R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sko.2	nonsynonymous SNV	exon3	c.A80G	p.K27R	PGYHLVEQSCWLKPLPRNLGHSLFW	PGYHLVEQSCWLRPLPRNLGHSLFW	8.0	7.0	unscreened	-	4037_12:42592983-42592983 T>C_PGYHLVEQSCWLRPLPRNLGHSLFW
7:156451250-156451250 T>A	0.0	4037	LUNG	-	-	-	-	RNF32	NM_030936,p.F224I|uc010lqm.3,p.F224I|ENST00000432459,p.F224I|uc003wmq.3,p.F224I|uc003wmr.3,p.F224I|ENST00000311822,p.F224I|uc003wmo.3,p.F224I|ENST00000405335,p.F224I|ENST00000317955,p.F224I|NM_001184997,p.F224I|NM_001184996,p.F224I|ENST00000343665,p.F200I|ENST00000392743,p.F224I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lqm.3	nonsynonymous SNV	exon7	c.T670A	p.F224I	TVPPTDAKLRKKFFEKKFTEISHRI	TVPPTDAKLRKKIFEKKFTEISHRI	5.0	4.0	unscreened	-	4037_7:156451250-156451250 T>A_TVPPTDAKLRKKIFEKKFTEISHRI
19:48836642-48836642 T>G	1.0	4037	LUNG	-	-	-	-	TMEM143	ENST00000377431,p.K305T|uc002piy.1,p.K370T|ENST00000436660,p.K340T|uc010elw.1,p.K305T|ENST00000541566,p.K295T|ENST00000435956,p.K370T|ENST00000293261,p.K405T|uc010xzo.1,p.K195T|NM_018273,p.K405T|uc010xzn.1,p.K340T|uc002pix.1,p.K405T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xzo.1	nonsynonymous SNV	exon6	c.A584C	p.K195T	WLRSEVENWLLAKSGCEVTFNGTRA	WLRSEVENWLLATSGCEVTFNGTRA	6.0	2.0	unscreened	-	4037_19:48836642-48836642 T>G_WLRSEVENWLLATSGCEVTFNGTRA
16:2126541-2126541 A>T	1.0	4037	LUNG	-	-	-	1	TSC2	uc002cop.3,p.D731V|uc010uvv.2,p.D894V|NM_001114382,p.D931V|ENST00000439673,p.D894V|ENST00000350773,p.D931V|uc010bsd.3,p.D931V|uc002con.3,p.D931V|ENST00000568454,p.D942V|NM_001077183,p.D931V|uc010uvw.2,p.D882V|NM_000548,p.D931V|ENST00000401874,p.D931V|ENST00000382538,p.D882V|uc002coo.3,p.D931V|ENST00000219476,p.D931V|ENST00000353929,p.D931V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uvw.2	nonsynonymous SNV	exon24	c.A2645T	p.D882V	NVLLSFDDTPEKDSFRARSTSLNER	NVLLSFDDTPEKVSFRARSTSLNER	8.0	2.0	unscreened	-	4037_16:2126541-2126541 A>T_NVLLSFDDTPEKVSFRARSTSLNER
21:37412903-37412903 A>C	1.0	4037	LUNG	-	-	-	-	SETD4	NM_017438,p.L345R|ENST00000399212,p.L321R|ENST00000399215,p.L345R|uc002yuw.2,p.L345R|NM_001286752,p.L321R|uc002yux.2,p.L321R|ENST00000332131,p.L345R|uc021wiy.1,p.L345R	retained_intron, protein_coding, processed_transcript	uc021wiy.1	nonsynonymous SNV	exon9	c.T1034G	p.L345R	GWDGPSWRLLTALKLLCLEAEKFTC	GWDGPSWRLLTARKLLCLEAEKFTC	7.0	3.0	unscreened	-	4037_21:37412903-37412903 A>C_GWDGPSWRLLTARKLLCLEAEKFTC
5:130834190-130834190 C>G	0.0	4037	LUNG	-	-	-	-	RAPGEF6	ENST00000514667,p.L505F|ENST00000509018,p.L455F|NM_001164389,p.L455F|NM_016340,p.L455F|NM_001164390,p.L455F|uc003kvr.3,p.L455F|uc010jdj.2,p.L455F|ENST00000512052,p.L170F|uc003kvp.2,p.L505F|NM_001164388,p.L455F|ENST00000510071,p.L455F|uc003kvn.2,p.L455F|ENST00000307984,p.L455F|ENST00000507093,p.L455F|ENST00000308008,p.L455F|uc010jdi.2,p.L455F|uc003kvq.3,p.L172F|uc010jdk.3,p.L455F|uc003kvo.2,p.L455F|NM_001164387,p.L455F|NM_001164386,p.L455F|ENST00000515170,p.L455F|ENST00000296859,p.L455F	protein_coding	uc010jdk.3	nonsynonymous SNV	exon12	c.G1365C	p.L455F	FLLTYRTFLESPLDVGIKLLEWFKI	FLLTYRTFLESPFDVGIKLLEWFKI	6.0	9.0	unscreened	-	4037_5:130834190-130834190 C>G_FLLTYRTFLESPFDVGIKLLEWFKI
2:85921588-85921588 A>C	0.0	4037	LUNG	-	-	-	-	GNLY	NM_006433,p.N16T|ENST00000263863,p.N16T|uc002sql.4,p.N16T	retained_intron, protein_coding, processed_transcript	uc002sql.4	nonsynonymous SNV	exon1	c.A47C	p.N16T	WALLLLAAMLLGNPGLVFSRLSPEY	WALLLLAAMLLGTPGLVFSRLSPEY	6.0	7.0	unscreened	-	4037_2:85921588-85921588 A>C_WALLLLAAMLLGTPGLVFSRLSPEY
15:50884233-50884233 T>A	0.0	4037	LUNG	-	-	-	-	TRPM7	NM_001301212,p.K1400I|ENST00000560955,p.K1400I|uc001zyt.4,p.K1400I|NM_017672,p.K1400I|ENST00000313478,p.K1400I|uc010bew.2,p.K1400I	retained_intron, protein_coding, processed_transcript	uc010bew.2	nonsynonymous SNV	exon26	c.A4199T	p.K1400I	STSIPHLSSPPTKFFVSTPSQPSCK	STSIPHLSSPPTIFFVSTPSQPSCK	8.0	6.0	unscreened	-	4037_15:50884233-50884233 T>A_STSIPHLSSPPTIFFVSTPSQPSCK
X:63412066-63412076 TCCTTGGTAGG>-	0.0	4037	LUNG	-	-	-	1	AMER1	ENST00000330258,p.T364fs|uc022byb.1,p.T364fs|ENST00000403336,p.T364fs|NM_152424,p.T364fs|uc004dvo.3,p.T364fs|ENST00000374869,p.T364fs	protein_coding	uc022byb.1	frameshift deletion	exon1	c.1091_1101del	p.T364fs	NRDGTKRSSCLVTYQGGGEEMALPD	NRDGTKRSSCLVRWGGDGLAR	6.0	2.0	unscreened	-	4037_X:63412066-63412076 TCCTTGGTAGG>-_NRDGTKRSSCLVRWGGDGLAR
1:40546149-40546149 C>A	1.0	4037	LUNG	-	-	-	-	PPT1	NM_001142604,p.A80S|ENST00000439754,p.A78S|ENST00000527311,p.A108S|ENST00000527107,p.A144S|ENST00000372779,p.A212S|uc010ojg.1,p.A80S|ENST00000433473,p.A183S|ENST00000529905,p.A183S|NM_000310,p.A183S|uc001cfb.2,p.A183S|ENST00000449045,p.A80S|uc010ojf.1,p.A133S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ojg.1	nonsynonymous SNV	exon3	c.G238T	p.A80S	AYSKVVQERLVQAEYWHDPIKEDVY	AYSKVVQERLVQSEYWHDPIKEDVY	10.0	3.0	unscreened	-	4037_1:40546149-40546149 C>A_AYSKVVQERLVQSEYWHDPIKEDVY
19:45293308-45293308 T>G	1.0	4037	LUNG	-	-	-	1	CBLC	uc010ejt.3,p.L276R|ENST00000270279,p.L322R|ENST00000341505,p.L276R|NM_012116,p.L322R|uc002ozs.3,p.L322R|NM_001130852,p.L276R	protein_coding	uc010ejt.3	nonsynonymous SNV	exon5	c.T827G	p.L276R	PDGKTHNPDLTELGQAEPQQRIHVS	PDGKTHNPDLTERGQAEPQQRIHVS	8.0	7.0	unscreened	-	4037_19:45293308-45293308 T>G_PDGKTHNPDLTERGQAEPQQRIHVS
7:44144310-44144310 T>G	0.0	4037	LUNG	-	-	-	-	AEBP1	uc003tkb.4,p.L16V|ENST00000223357,p.L16V|NM_001129,p.L16V	protein_coding, processed_transcript, nonsense_mediated_decay	uc003tkb.4	nonsynonymous SNV	exon1	c.T46G	p.L16V	VRGAPLLSCLLALLALCPGGRPQTV	VRGAPLLSCLLAVLALCPGGRPQTV	10.0	1.0	unscreened	-	4037_7:44144310-44144310 T>G_VRGAPLLSCLLAVLALCPGGRPQTV
12:48061547-48061547 A>C	0.0	4037	LUNG	-	-	-	-	RPAP3	ENST00000380650,p.F567V|NM_001146076,p.F442V|NM_001146075,p.F567V|ENST00000432584,p.F442V|uc001rps.3,p.F567V|NM_024604,p.F601V|uc001rpr.3,p.F601V|uc010slk.2,p.F442V|ENST00000005386,p.F601V	retained_intron, protein_coding, processed_transcript	uc010slk.2	nonsynonymous SNV	exon14	c.T1324G	p.F442V	DVFNQIVKILHDFYIEKEKPLLIFE	DVFNQIVKILHDVYIEKEKPLLIFE	7.0	4.0	unscreened	-	4037_12:48061547-48061547 A>C_DVFNQIVKILHDVYIEKEKPLLIFE
1:229438680-229438680 C>T	1.0	4037	LUNG	-	-	-	-	RAB4A	uc031psp.1,p.P100S|uc001hth.4,p.P205S|ENST00000366690,p.P205S|NM_004578,p.P205S|NM_001271998,p.P100S	retained_intron, protein_coding, processed_transcript	uc031psp.1	nonsynonymous SNV	exon5	c.C298T	p.P100S	QYGDAALRQLRSPRRAQAPNAQECG	QYGDAALRQLRSSRRAQAPNAQECG	8.0	10.0	-	-	4037_1:229438680-229438680 C>T_QYGDAALRQLRSSRRAQAPNAQECG
9:34234332-34234332 A>C	1.0	4037	LUNG	-	-	-	-	UBAP1	ENST00000540348,p.E51D|uc022bfy.1,p.E51D|ENST00000536252,p.E51D|uc022bfz.1,p.E51D|uc003ztx.3,p.E51D|uc011loj.2,p.E115D|NM_016525,p.E51D|ENST00000297661,p.E51D|ENST00000379186,p.E51D|NM_001171204,p.E51D|uc003zty.3,p.E51D|uc003ztz.3,p.E51D|ENST00000359544,p.E51D|NM_001171203,p.E51D|ENST00000545103,p.E115D|NM_001171201,p.E115D	protein_coding	uc022bfz.1	nonsynonymous SNV	exon4	c.A153C	p.E51D	GFSLPDCLQVVREVQYDFSLEKKTI	GFSLPDCLQVVRDVQYDFSLEKKTI	10.0	1.0	unscreened	-	4037_9:34234332-34234332 A>C_GFSLPDCLQVVRDVQYDFSLEKKTI
1:220826691-220826691 G>A	1.0	4037	LUNG	-	-	-	-	MARK1	uc010pun.2,p.R662H|ENST00000366918,p.R640H|NM_001286126,p.R662H|ENST00000402574,p.R527H|NM_001286128,p.R640H|uc001hmm.4,p.R640H	protein_coding, processed_transcript	uc010pun.2	nonsynonymous SNV	exon16	c.G1985A	p.R662H	TGIISKITSKFVRRSTSGEPKERDK	TGIISKITSKFVHRSTSGEPKERDK	6.0	10.0	-	-	4037_1:220826691-220826691 G>A_TGIISKITSKFVHRSTSGEPKERDK
21:33975502-33975502 T>G	1.0	4037	LUNG	-	-	-	-	C21orf59	uc010glx.3,p.E113A|uc002ypy.2,p.E212A|ENST00000290155,p.E212A|NM_021254,p.E212A|uc002yqc.3,p.E212A	 nonsense_mediated_decay,retained_intron, protein_coding	uc010glx.3	nonsynonymous SNV	exon4	c.A338C	p.E113A	RTKKLSDYVGKNEKTKIIAKIQQRG	RTKKLSDYVGKNAKTKIIAKIQQRG	9.0	5.0	unscreened	-	4037_21:33975502-33975502 T>G_RTKKLSDYVGKNAKTKIIAKIQQRG
19:42223992-42223992 A>G	1.0	4037	LUNG	-	-	-	-	CEACAM5	ENST00000405816,p.R546G|uc002orj.1,p.R545G|ENST00000221992,p.R546G|uc002orl.3,p.R546G|ENST00000398599,p.R545G|NM_004363,p.R546G|NM_001291484,p.R546G	retained_intron, protein_coding	uc002orl.3	nonsynonymous SNV	exon7	c.A1636G	p.R546G	WWVNGQSLPVSPRLQLSNGNRTLTL	WWVNGQSLPVSPGLQLSNGNRTLTL	5.0	6.0	unscreened	-	4037_19:42223992-42223992 A>G_WWVNGQSLPVSPGLQLSNGNRTLTL
6:87968166-87968167 TC>-	0.0	4037	LUNG	-	-	-	-	ZNF292	ENST00000369577,p.S1607fs|NM_015021,p.S1607fs|ENST00000339907,p.S1602fs|uc003plm.4,p.S1607fs	protein_coding, processed_transcript	uc003plm.4	frameshift deletion	exon8	c.4819_4820del	p.S1607fs	PSQNFTSNSSRVSVISGPQNTRSSH	PSQNFTSNSSRVCYKWSSEHKIQSFK	8.0	1.0	unscreened	-	4037_6:87968166-87968167 TC>-_PSQNFTSNSSRVCYKWSSEHKIQSFK
21:33975502-33975502 T>G	1.0	4037	LUNG	-	-	-	-	C21orf59	uc002ypz.2,p.E212A|ENST00000553001,p.E212A	 nonsense_mediated_decay,retained_intron, protein_coding	uc002ypz.2	nonsynonymous SNV	exon5	c.A635C	p.E212A	RTKKLSDYVGKNEKTKIIAKIQQPL	RTKKLSDYVGKNAKTKIIAKIQQPL	9.0	5.0	unscreened	-	4037_21:33975502-33975502 T>G_RTKKLSDYVGKNAKTKIIAKIQQPL
21:33975502-33975502 T>G	1.0	4037	LUNG	-	-	-	-	C21orf59	ENST00000440966,p.E212A	 nonsense_mediated_decay,retained_intron, protein_coding	ENST00000440966	nonsynonymous SNV	exon5	c.A635C	p.E212A	RTKKLSDYVGKNEKTKIIAKIQQRL	RTKKLSDYVGKNAKTKIIAKIQQRL	9.0	5.0	unscreened	-	4037_21:33975502-33975502 T>G_RTKKLSDYVGKNAKTKIIAKIQQRL
6:43160864-43160864 C>T	1.0	4037	LUNG	-	-	-	-	CUL9	ENST00000354495,p.A659V|NM_015089,p.A769V|uc003ouk.3,p.A769V|ENST00000252050,p.A769V|uc003oul.3,p.A769V|ENST00000372647,p.A769V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003oul.3	nonsynonymous SNV	exon9	c.C2306T	p.A769V	LLMTKHEWRPLFAREGGIYAVLVCM	LLMTKHEWRPLFVREGGIYAVLVCM	7.0	9.0	unscreened	-	4037_6:43160864-43160864 C>T_LLMTKHEWRPLFVREGGIYAVLVCM
15:59064125-59064125 G>T	1.0	4037	LUNG	-	-	-	-	FAM63B	NM_001040453,p.E177D|ENST00000316848,p.E177D|NM_001040450,p.E177D|ENST00000560289,p.E177D|uc002afi.3,p.E177D|ENST00000450403,p.E177D|ENST00000559228,p.E177D|uc002afj.3,p.E177D	protein_coding, nonsense_mediated_decay	uc002afj.3	nonsynonymous SNV	exon1	c.G531T	p.E177D	SPPGESPSLDSLESFSNLHSFPSSC	SPPGESPSLDSLDSFSNLHSFPSSC	7.0	9.0	unscreened	-	4037_15:59064125-59064125 G>T_SPPGESPSLDSLDSFSNLHSFPSSC
15:44890832-44890832 C>G	1.0	4037	LUNG	-	-	-	-	SPG11	uc001ztx.3,p.V1297L|uc010uei.2,p.V1297L|uc001zty.1,p.V26L|uc010ueh.2,p.V1297L|ENST00000261866,p.V1297L|NM_001160227,p.V1297L|ENST00000558319,p.V1297L|ENST00000535302,p.V1297L|NM_025137,p.V1297L|ENST00000427534,p.V1297L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay	uc010uei.2	nonsynonymous SNV	exon22	c.G3889C	p.V1297L	NEDAQYSFIRESVAEKLSKLADGEK	NEDAQYSFIRESLAEKLSKLADGEK	8.0	9.0	unscreened	-	4037_15:44890832-44890832 C>G_NEDAQYSFIRESLAEKLSKLADGEK
9:3263072-3263072 T>C	1.0	4037	LUNG	-	-	-	-	RFX3	uc003zhr.3,p.S490G|uc010mhd.3,p.S490G|ENST00000382004,p.S490G|ENST00000302303,p.S490G|NM_134428,p.S490G|uc003zhs.1,p.S490G|NM_002919,p.S490G|NM_001282116,p.S490G|ENST00000458034,p.S63G|ENST00000358730,p.S490G	protein_coding	uc010mhd.3	nonsynonymous SNV	exon13	c.A1468G	p.S490G	PQRMIQTKVAAVSAFAQTLRRYTSL	PQRMIQTKVAAVGAFAQTLRRYTSL	6.0	5.0	unscreened	-	4037_9:3263072-3263072 T>C_PQRMIQTKVAAVGAFAQTLRRYTSL
X:19017278-19017278 T>G	1.0	4037	LUNG	-	-	-	-	GPR64	ENST00000354791,p.K801T|NM_001184834,p.K817T|NM_005756,p.K814T|ENST00000379878,p.K801T|ENST00000379869,p.K817T|NM_001079859,p.K803T|NM_001184836,p.K793T|ENST00000356606,p.K803T|ENST00000357544,p.K787T|uc004cyw.3,p.K801T|uc004czb.3,p.K817T|uc004czc.3,p.K801T|uc004cza.3,p.K795T|uc004cze.3,p.K787T|uc010nfj.3,p.K698T|uc004czd.3,p.K793T|NM_001184837,p.K787T|ENST00000360279,p.K795T|ENST00000340581,p.K698T|uc004czf.3,p.K779T|uc004cyy.3,p.K814T|uc004cyz.3,p.K803T|ENST00000379873,p.K817T|NM_001184833,p.K801T|NM_001079860,p.K795T|NM_001079858,p.K817T|uc004cyx.3,p.K817T|NM_001184835,p.K779T|ENST00000357991,p.K814T|ENST00000379876,p.K793T	retained_intron, protein_coding	uc010nfj.3	nonsynonymous SNV	exon21	c.A2093C	p.K698T	FIVVLVQLCRIKKKKQLGAQRKTSI	FIVVLVQLCRIKTKKQLGAQRKTSI	5.0	8.0	unscreened	-	4037_X:19017278-19017278 T>G_FIVVLVQLCRIKTKKQLGAQRKTSI
22:32111192-32111192 G>T	1.0	4037	LUNG	-	-	-	-	PRR14L	ENST00000434485,p.A878E|uc003alp.4,p.A878E|ENST00000397493,p.A878E|ENST00000327423,p.A878E|uc010gwj.1,p.A677E|NM_173566,p.A878E|uc003alo.2,p.A677E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010gwj.1	nonsynonymous SNV	exon1	c.C2030A	p.A677E	SLPGDKIRNKMVAGLLNSGISNKTI	SLPGDKIRNKMVEGLLNSGISNKTI	7.0	9.0	unscreened	-	4037_22:32111192-32111192 G>T_SLPGDKIRNKMVEGLLNSGISNKTI
2:54125044-54125044 A>C	1.0	4037	LUNG	-	-	-	-	PSME4	uc010yop.1,p.V1076G|ENST00000421748,p.V334G|uc010fbu.1,p.V565G|uc002rxp.2,p.V1190G|NM_014614,p.V1190G|ENST00000404125,p.V1190G|uc010fbv.1,p.V334G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yop.1	nonsynonymous SNV	exon30	c.T3227G	p.V1076G	DRVLPLRAIRFFVENLNHDAIVVRK	DRVLPLRAIRFFGENLNHDAIVVRK	9.0	2.0	unscreened	-	4037_2:54125044-54125044 A>C_DRVLPLRAIRFFGENLNHDAIVVRK
21:33975502-33975502 T>G	1.0	4037	LUNG	-	-	-	-	C21orf59	ENST00000382549,p.E212A|uc011adr.2,p.E156A|ENST00000540881,p.E156A|uc002yqb.4,p.E212A|uc002yqa.3,p.E93A	 nonsense_mediated_decay,retained_intron, protein_coding	uc011adr.2	nonsynonymous SNV	exon4	c.A467C	p.E156A	RTKKLSDYVGKNEKTKIIAKIQQVS	RTKKLSDYVGKNAKTKIIAKIQQVS	9.0	5.0	unscreened	-	4037_21:33975502-33975502 T>G_RTKKLSDYVGKNAKTKIIAKIQQVS
1:32834134-32834134 T>C	1.0	4037	LUNG	-	-	-	-	BSDC1	uc010ohh.2,p.S336G|NM_001143889,p.S336G|NM_001300958,p.S409G|ENST00000419121,p.S336G|uc001bvh.4,p.S392G|uc010ohg.2,p.S409G|ENST00000526031,p.S297G|ENST00000446293,p.S409G|uc010ohi.2,p.S297G|uc001bvi.3,p.S409G|NM_001143890,p.S297G|uc001bvj.3,p.S288G|NM_001143888,p.S409G|ENST00000341071,p.S409G|NM_018045,p.S392G|ENST00000413080,p.S331G|ENST00000455895,p.S392G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ohi.2	nonsynonymous SNV	exon8	c.A889G	p.S297G	SNNGKKGSSTDISEDWEKDFDLDMT	SNNGKKGSSTDIGEDWEKDFDLDMT	9.0	2.0	unscreened	-	4037_1:32834134-32834134 T>C_SNNGKKGSSTDIGEDWEKDFDLDMT
X:118797599-118797599 A>C	1.0	4037	LUNG	-	-	-	2	SEPT6	NM_015129,p.F63V|NM_145802,p.F63V|ENST00000394617,p.F93V|uc004ert.3,p.F63V|ENST00000354416,p.F63V|ENST00000354228,p.F63V|ENST00000343984,p.F63V|uc004ers.3,p.F63V|ENST00000460411,p.F63V|uc011mtw.1,p.F93V|uc004eru.3,p.F63V|ENST00000394610,p.F63V|ENST00000489216,p.F63V|NM_145800,p.F63V|ENST00000360156,p.F63V|NM_145799,p.F63V|uc004erv.3,p.F63V	protein_coding, processed_transcript, nonsense_mediated_decay	uc011mtw.1	nonsynonymous SNV	exon4	c.T277G	p.F93V	TGLGKSTLMDTLFNTKFEGEPATHT	TGLGKSTLMDTLVNTKFEGEPATHT	6.0	10.0	unscreened	-	4037_X:118797599-118797599 A>C_TGLGKSTLMDTLVNTKFEGEPATHT
1:46425098-46425098 A>G	1.0	4037	LUNG	-	-	-	-	MAST2	ENST00000372009,p.S181G|ENST00000361297,p.S181G|NM_015112,p.S181G|uc009vya.3,p.S96G|uc001cox.1,p.S38G|uc001coz.1,p.S66G|uc001cow.3,p.S181G|uc001cov.3,p.S181G|ENST00000372008,p.S66G	protein_coding, processed_transcript	uc009vya.3	nonsynonymous SNV	exon3	c.A286G	p.S96G	RTSNRKSLIVTSSTSPTLPRPHSPL	RTSNRKSLIVTSGTSPTLPRPHSPL	8.0	7.0	unscreened	-	4037_1:46425098-46425098 A>G_RTSNRKSLIVTSGTSPTLPRPHSPL
19:3186057-3186068 AGAACATGCTGA>-	1.0	4037	LUNG	-	-	-	-	NCLN	NM_020170,p.10_14del|uc002lxi.3,p.10_14del|ENST00000246117,p.10_14del	protein_coding, processed_transcript, nonsense_mediated_decay	uc002lxi.3	nonframeshift deletion	exon1	c.29_40del	p.10_14del	MLEEAGEVLENMLKASCLPLGF	MLEEAGEVLEASCLPLGFIVFL	8.0	9.0	unscreened	-	4037_19:3186057-3186068 AGAACATGCTGA>-_MLEEAGEVLEASCLPLGFIVFL
10:27412620-27412620 A>T	0.0	4037	LUNG	-	-	-	-	YME1L1	ENST00000326799,p.L377I|ENST00000375972,p.L287I|uc001itj.3,p.L320I|ENST00000376016,p.L320I|NM_139312,p.L377I|NM_001253866,p.L287I|NM_014263,p.L320I|ENST00000491542,p.L196I|uc001iti.3,p.L377I|uc010qdl.2,p.L287I	protein_coding, processed_transcript	uc010qdl.2	nonsynonymous SNV	exon9	c.T859A	p.L287I	TILGGKLPKGILLVGPPGTGKTLLA	TILGGKLPKGILIVGPPGTGKTLLA	10.0	4.0	unscreened	-	4037_10:27412620-27412620 A>T_TILGGKLPKGILIVGPPGTGKTLLA
11:65988262-65988262 A>G	0.0	4037	LUNG	-	-	-	-	PACS1	NM_018026,p.K400R|uc001oha.2,p.K400R|ENST00000320580,p.K400R	retained_intron, protein_coding, nonsense_mediated_decay	uc001oha.2	nonsynonymous SNV	exon9	c.A1199G	p.K400R	TESILSTPKPKLKPFFEGMSQSSSQ	TESILSTPKPKLRPFFEGMSQSSSQ	9.0	5.0	unscreened	-	4037_11:65988262-65988262 A>G_TESILSTPKPKLRPFFEGMSQSSSQ
2:131674929-131674929 A>G	0.0	4037	LUNG	-	-	-	-	ARHGEF4	ENST00000409359,p.K807R|uc002trz.1,p.K597R|uc010fmw.1,p.K597R|ENST00000438985,p.K131R	retained_intron, protein_coding, processed_transcript	uc010fmw.1	nonsynonymous SNV	exon1	c.A1790G	p.K597R	YVDSSSGDPERPKIPKGQTSFLLSL	YVDSSSGDPERPRIPKGQTSFLLSL	7.0	4.0	unscreened	-	4037_2:131674929-131674929 A>G_YVDSSSGDPERPRIPKGQTSFLLSL
22:30032753-30032753 G>T	1.0	4037	LUNG	-	-	-	1	NF2	NM_000268,p.G43V|ENST00000361166,p.G43V|NM_181832,p.G43V|ENST00000403435,p.G43V|uc003age.4,p.G43V|NM_181833,p.G43V|ENST00000403999,p.G43V|NM_181829,p.G43V|ENST00000361452,p.G43V|uc003agf.4,p.G43V|uc003agg.4,p.G43V|uc003agh.4,p.G43V|uc003afy.4,p.G43V|ENST00000397789,p.G43V|uc003agj.4,p.G43V|NM_181825,p.G43V|ENST00000338641,p.G43V|NM_016418,p.G43V|ENST00000413209,p.G43V	protein_coding, nonsense_mediated_decay	uc003agj.4	nonsynonymous SNV	exon2	c.G128T	p.G43V	AEMEFNCEMKWKGKDLFDLVCRTLG	AEMEFNCEMKWKVKDLFDLVCRTLG	7.0	9.0	unscreened	-	4037_22:30032753-30032753 G>T_AEMEFNCEMKWKVKDLFDLVCRTLG
19:3754245-3754245 G>A	1.0	4037	LUNG	-	-	-	-	APBA3	NM_004886,p.P237L|ENST00000316757,p.P237L|uc002lyp.1,p.P237L	retained_intron, protein_coding	uc002lyp.1	nonsynonymous SNV	exon4	c.C710T	p.P237L	YLGSTQLVSERNPPTSTRMAQAREA	YLGSTQLVSERNLPTSTRMAQAREA	8.0	9.0	unscreened	-	4037_19:3754245-3754245 G>A_YLGSTQLVSERNLPTSTRMAQAREA
15:43714180-43714180 T>G	1.0	4037	LUNG	-	-	-	-	TP53BP1	uc010udq.1,p.S1325R|uc001zrs.3,p.S1320R|NM_005657,p.S1320R|NM_001141980,p.S1325R|ENST00000450115,p.S1325R|uc001zrr.4,p.S1325R|NM_001141979,p.S1325R|ENST00000382039,p.S1325R|ENST00000382044,p.S1325R|uc010udp.2,p.S1320R|ENST00000263801,p.S1320R|uc001zrq.4,p.S1325R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010udq.1	nonsynonymous SNV	exon19	c.A3973C	p.S1325R	KASSLHRTSSGTSLSAMHSSGSSGK	KASSLHRTSSGTRLSAMHSSGSSGK	6.0	6.0	unscreened	-	4037_15:43714180-43714180 T>G_KASSLHRTSSGTRLSAMHSSGSSGK
1:40668223-40668224 TT>-	0.0	4037	LUNG	-	-	-	-	RLF	ENST00000372771,p.S249fs|uc001cfc.4,p.S249fs|NM_012421,p.S249fs	protein_coding, processed_transcript	uc001cfc.4	frameshift deletion	exon5	c.747_748del	p.S249fs	LCAESKEISNVSSFQQAYITCLCSM	LCAESKEISNVSSSASLYHMFMFYAP	7.0	1.0	unscreened	-	4037_1:40668223-40668224 TT>-_LCAESKEISNVSSSASLYHMFMFYAP
17:37881414-37881414 T>G	1.0	4037	LUNG	-	-	ID=COSM249793;OCCURENCE=1(lung)	1	ERBB2	ENST00000406381,p.L839R|NM_001005862,p.L839R|ENST00000445658,p.L593R|ENST00000584450,p.L869R|ENST00000584601,p.L839R|ENST00000540147,p.L839R|uc010cwb.3,p.L869R|uc010wek.2,p.L593R|uc002hso.3,p.L869R|ENST00000269571,p.L869R|uc010cwa.3,p.L854R|ENST00000541774,p.L854R|uc002hsm.3,p.L839R|uc002hsp.3,p.L672R|NM_001289936,p.L854R|NM_001289937,p.L869R|NM_004448,p.L869R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wek.2	nonsynonymous SNV	exon15	c.T1778G	p.L593R	NHVKITDFGLARLLDIDETEYHADG	NHVKITDFGLARRLDIDETEYHADG	10.0	10.0	-	-	4037_17:37881414-37881414 T>G_NHVKITDFGLARRLDIDETEYHADG
12:7044905-7044905 T>A	0.0	4037	LUNG	-	-	-	-	ATN1	NM_001940,p.Y159N|ENST00000396684,p.Y159N|uc001qrx.1,p.Y159N|uc001qrw.1,p.Y159N|uc001qry.1,p.Y158N|ENST00000356654,p.Y159N|NM_001007026,p.Y159N	retained_intron, protein_coding	uc001qry.1	nonsynonymous SNV	exon4	c.T472A	p.Y158N	SSSGLSQGPARPYHPPPLFPPSPQP	SSSGLSQGPARPNHPPPLFPPSPQP	9.0	1.0	unscreened	-	4037_12:7044905-7044905 T>A_SSSGLSQGPARPNHPPPLFPPSPQP
1:150923912-150923912 A>C	1.0	4037	LUNG	-	-	-	-	SETDB1	NM_001145415,p.N762T|uc009wmg.2,p.N762T|ENST00000498193,p.N762T|NM_012432,p.N762T|ENST00000271640,p.N762T|uc001evu.2,p.N762T|ENST00000368969,p.N762T|uc001evv.2,p.N762T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009wmg.2	nonsynonymous SNV	exon14	c.A2285C	p.N762T	ATACTPGGQINPNSGYQYKRLEECL	ATACTPGGQINPTSGYQYKRLEECL	8.0	1.0	unscreened	-	4037_1:150923912-150923912 A>C_ATACTPGGQINPTSGYQYKRLEECL
17:30377124-30377124 G>A	1.0	4037	LUNG	-	-	-	-	LRRC37B	ENST00000543378,p.E845K|uc010csu.3,p.E876K|uc010wbx.2,p.E845K|ENST00000327564,p.E954K|ENST00000341671,p.E927K|ENST00000584368,p.E888K|uc002hgu.3,p.E927K|ENST00000394713,p.E876K|NM_052888,p.E927K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wbx.2	nonsynonymous SNV	exon14	c.G2533A	p.E845K	ILIILIIIFCLIEVNSHKRASEKYK	ILIILIIIFCLIKVNSHKRASEKYK	8.0	8.0	unscreened	-	4037_17:30377124-30377124 G>A_ILIILIIIFCLIKVNSHKRASEKYK
10:70048344-70048344 A>C	0.0	4037	LUNG	-	-	-	-	PBLD	NM_022129,p.L196R|uc001jnr.1,p.L163R|ENST00000358769,p.L196R|ENST00000432941,p.L196R|uc001jns.1,p.L196R|uc001jnu.1,p.L196R|uc001jnt.1,p.L196R|NM_001033083,p.L196R|ENST00000309049,p.L196R|ENST00000336578,p.L163R	protein_coding, processed_transcript	uc001jnu.1	nonsynonymous SNV	exon8	c.T587G	p.L196R	LLQVENTGKVKGLILTLKGEPGGQT	LLQVENTGKVKGRILTLKGEPGGQT	5.0	6.0	unscreened	-	4037_10:70048344-70048344 A>C_LLQVENTGKVKGRILTLKGEPGGQT
7:148851361-148851361 G>C	1.0	4037	LUNG	-	-	-	-	ZNF398	ENST00000540950,p.E122Q|uc003wfl.3,p.E117Q|uc011kum.2,p.E122Q|NM_170686,p.E117Q|ENST00000475153,p.E117Q	protein_coding, processed_transcript	uc011kum.2	nonsynonymous SNV	exon3	c.G364C	p.E122Q	EYGLLQRRLENLENLLRNRNFWILR	EYGLLQRRLENLQNLLRNRNFWILR	6.0	9.0	unscreened	-	4037_7:148851361-148851361 G>C_EYGLLQRRLENLQNLLRNRNFWILR
17:7492628-7492628 T>G	1.0	4037	LUNG	-	-	-	-	SOX15	ENST00000250055,p.K123Q|NM_006942,p.K123Q|uc002ghz.1,p.K123Q|ENST00000538513,p.K123Q|uc002ghy.1,p.K123Q|ENST00000570788,p.K123Q	protein_coding	uc002ghz.1	nonsynonymous SNV	exon1	c.A367C	p.K123Q	RDYPDYKYRPRRKAKSSGAGPSRCG	RDYPDYKYRPRRQAKSSGAGPSRCG	9.0	10.0	-	-	4037_17:7492628-7492628 T>G_RDYPDYKYRPRRQAKSSGAGPSRCG
20:34086451-34086451 A>G	0.0	4037	LUNG	-	-	-	-	CEP250	ENST00000425525,p.K96R|ENST00000397527,p.K1228R|uc010zve.2,p.K596R|ENST00000342580,p.K1172R|uc021wco.1,p.K1228R|NM_007186,p.K1228R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wco.1	nonsynonymous SNV	exon27	c.A3683G	p.K1228R	LEPDQNGARSLFKRGPLLTALSAEA	LEPDQNGARSLFRRGPLLTALSAEA	7.0	3.0	unscreened	-	4037_20:34086451-34086451 A>G_LEPDQNGARSLFRRGPLLTALSAEA
7:101847825-101847825 A>G	1.0	4037	LUNG	-	-	ID=COSM341465;OCCURENCE=1(lung)	1	CUX1	ENST00000360264,p.Q1032R|ENST00000292535,p.Q1021R|ENST00000556210,p.Q863R|ENST00000546411,p.Q919R|uc003uyx.4,p.Q1021R|ENST00000549414,p.Q999R|NM_001202543,p.Q1032R|ENST00000550008,p.Q965R|uc003uys.4,p.Q1032R|NM_181552,p.Q1021R	retained_intron, protein_coding, processed_transcript	uc003uyx.4	nonsynonymous SNV	exon19	c.A3062G	p.Q1021R	ELGQGVLPVQGQQQGPVLHSVTSLQ	ELGQGVLPVQGQRQGPVLHSVTSLQ	8.0	2.0	unscreened	-	4037_7:101847825-101847825 A>G_ELGQGVLPVQGQRQGPVLHSVTSLQ
19:36595733-36595733 T>G	1.0	4037	LUNG	-	-	-	-	WDR62	uc002odc.2,p.F1454V|NM_173636,p.F1454V|ENST00000270301,p.F1454V|NM_001083961,p.F1459V|uc002odd.2,p.F1459V|ENST00000401500,p.F1459V	protein_coding, processed_transcript, nonsense_mediated_decay	uc002odd.2	nonsynonymous SNV	exon32	c.T4375G	p.F1459V	GQQQARTELVSTFLWIHSQLEAECL	GQQQARTELVSTVLWIHSQLEAECL	5.0	5.0	unscreened	-	4037_19:36595733-36595733 T>G_GQQQARTELVSTVLWIHSQLEAECL
7:100028479-100028480 GA>-	0.0	4037	LUNG	-	-	-	-	MEPCE	ENST00000310512,p.E280fs|uc003uuw.3,p.E280fs|NM_019606,p.E280fs	retained_intron, protein_coding, processed_transcript	uc003uuw.3	frameshift deletion	exon1	c.838_839del	p.E280fs	QHHQQQQAAGGSESHPVPPTAPLTP	QHHQQQQAAGGSESPRAAHSPSHPLTPRGGRLTAAAAQGPEPGCPPTL	7.0	7.0	unscreened	-	4037_7:100028479-100028480 GA>-_QHHQQQQAAGGSESPRAAHSPSHPLTPRGGRLTAAAAQGPEPGCPPTL
3:15262340-15262340 A>G	1.0	4037	LUNG	-	-	-	-	CAPN7	uc003bzn.3,p.T164A|ENST00000253693,p.T164A|NM_014296,p.T164A	retained_intron, protein_coding, nonsense_mediated_decay	uc003bzn.3	nonsynonymous SNV	exon5	c.A490G	p.T164A	EPLTKPVGKISSTSVKPKPPPVRAH	EPLTKPVGKISSASVKPKPPPVRAH	8.0	2.0	unscreened	-	4037_3:15262340-15262340 A>G_EPLTKPVGKISSASVKPKPPPVRAH
3:46399263-46399263 T>C	0.0	4037	LUNG	-	-	-	-	CCR2	NM_001123396,p.L82P|ENST00000445132,p.L82P|ENST00000400888,p.L82P|uc021wxa.1,p.L82P|uc003cpn.4,p.L82P|ENST00000292301,p.L82P|ENST00000421659,p.L82P|uc003cpm.4,p.L82P|NM_001123041,p.L82P	protein_coding, processed_transcript	uc021wxa.1	nonsynonymous SNV	exon1	c.T245C	p.L82P	CKKLKCLTDIYLLNLAISDLLFLIT	CKKLKCLTDIYLPNLAISDLLFLIT	5.0	7.0	unscreened	-	4037_3:46399263-46399263 T>C_CKKLKCLTDIYLPNLAISDLLFLIT
13:46060704-46060704 A>C	0.0	4037	LUNG	-	-	ID=COSM3704650;OCCURENCE=2(liver)	-	COG3	uc001vak.3,p.K306N|ENST00000349995,p.K306N|uc010aci.3,p.K82N|uc001vai.3,p.K306N|NM_031431,p.K306N|uc010tfv.2,p.K143N	protein_coding, processed_transcript	uc010tfv.2	nonsynonymous SNV	exon8	c.A429C	p.K143N	TLFYVKFRAAAPKVRTLIEQIELRS	TLFYVKFRAAAPNVRTLIEQIELRS	8.0	5.0	unscreened	-	4037_13:46060704-46060704 A>C_TLFYVKFRAAAPNVRTLIEQIELRS
11:293616-293618 CGT>-	1.0	4037	LUNG	-	-	-	-	ATHL1	uc010qvu.2,p.501_502del|ENST00000409479,p.528_529del|NM_025092,p.501_502del|uc001lou.4,p.76_77del|ENST00000409548,p.501_502del	retained_intron, protein_coding, nonsense_mediated_decay	uc010qvu.2	nonframeshift deletion	exon10	c.1503_1505del	p.501_502del	DGYEPGEVVKQADVVLLGYPVPFSL	DGYEPGEVVKQADVLLGYPVPFSLS	9.0	10.0	-	-	4037_11:293616-293618 CGT>-_DGYEPGEVVKQADVLLGYPVPFSLS
7:156451250-156451250 T>A	0.0	4037	LUNG	-	-	-	-	RNF32	ENST00000392741,p.F224I|uc003wmt.3,p.F224I|uc003wms.3,p.F224I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003wmt.3	nonsynonymous SNV	exon6	c.T670A	p.F224I	TVPPTDAKLRKKFFEKKTQDWKPA	TVPPTDAKLRKKIFEKKTQDWKPA	5.0	4.0	unscreened	-	4037_7:156451250-156451250 T>A_TVPPTDAKLRKKIFEKKTQDWKPA
1:155029681-155029681 A>C	1.0	4037	LUNG	-	-	-	-	ADAM15	ENST00000368413,p.N95T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000368413	nonsynonymous SNV	exon5	c.A284C	p.N95T	ELLQNRELVPGLNFSNCSRRALEKA	ELLQNRELVPGLTFSNCSRRALEKA	10.0	2.0	unscreened	-	4037_1:155029681-155029681 A>C_ELLQNRELVPGLTFSNCSRRALEKA
2:55529067-55529067 T>G	0.0	4037	LUNG	-	-	-	-	CCDC88A	uc002ryu.2,p.N792T|uc010ypa.1,p.N1537T|uc002rys.3,p.N495T|ENST00000436346,p.N1538T|uc002ryv.2,p.N1537T|ENST00000413716,p.N1537T|uc010yoz.1,p.N1510T|uc002ryw.3,p.N821T|NM_018084,p.N1510T|ENST00000263630,p.N1510T|NM_001135597,p.N1537T|ENST00000412148,p.N555T|ENST00000336838,p.N1537T|ENST00000426576,p.N713T|NM_001254943,p.N1537T|uc010fby.1,p.N389T	retained_intron, protein_coding, processed_transcript	uc010ypa.1	nonsynonymous SNV	exon27	c.A4610C	p.N1537T	ELGAMAFSTTAINFSTVNSSAGFRS	ELGAMAFSTTAITFSTVNSSAGFRS	6.0	5.0	unscreened	-	4037_2:55529067-55529067 T>G_ELGAMAFSTTAITFSTVNSSAGFRS
2:174227972-174227972 G>A	1.0	4037	LUNG	-	-	-	-	CDCA7	NM_145810,p.E56K|ENST00000347703,p.E56K|ENST00000392567,p.E56K|uc002uid.1,p.E56K	retained_intron, protein_coding, nonsense_mediated_decay	uc002uid.1	nonsynonymous SNV	exon3	c.G166A	p.E56K	DNFANTRLQSVREGCRTRSQCRHSG	DNFANTRLQSVRKGCRTRSQCRHSG	7.0	10.0	unscreened	-	4037_2:174227972-174227972 G>A_DNFANTRLQSVRKGCRTRSQCRHSG
4:37904006-37904006 A>T	0.0	4037	LUNG	-	-	-	-	TBC1D1	uc010ifd.3,p.K97M	retained_intron, protein_coding, processed_transcript	uc010ifd.3	nonsynonymous SNV	exon1	c.A290T	p.K97M	WDPLIYSSIFECKPQRCTNEALVDE	WDPLIYSSIFECMPQRCTNEALVDE	8.0	6.0	unscreened	-	4037_4:37904006-37904006 A>T_WDPLIYSSIFECMPQRCTNEALVDE
1:1572120-1572120 A>C	1.0	4037	LUNG	-	-	-	-	CDK11B	uc009vkj.2,p.I271S|ENST00000407249,p.I617S|uc001agt.1,p.I397S|ENST00000340677,p.I604S|ENST00000317673,p.I615S|NM_033490,p.I397S|uc001agz.1,p.I358S|uc001ags.1,p.I472S|ENST00000341832,p.I570S|NM_033487,p.I358S	protein_coding	uc009vkj.2	nonsynonymous SNV	exon8	c.T812G	p.I271S	YSTAVDMWSVGCIFGELLTQKPLFP	YSTAVDMWSVGCSFGELLTQKPLFP	10.0	4.0	unscreened	-	4037_1:1572120-1572120 A>C_YSTAVDMWSVGCSFGELLTQKPLFP
18:44662716-44662716 A>T	1.0	4037	LUNG	-	-	-	-	HDHD2	ENST00000586546,p.L32H|ENST00000588183,p.L32H|ENST00000591268,p.L32H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000591268	nonsynonymous SNV	exon2	c.T95A	p.L32H	IEDAAVPGAQEALKRQAILQVQLTN	IEDAAVPGAQEAHKRQAILQVQLTN	9.0	2.0	unscreened	-	4037_18:44662716-44662716 A>T_IEDAAVPGAQEAHKRQAILQVQLTN
10:104629929-104629929 G>A	1.0	4037	LUNG	-	-	-	-	AS3MT	NM_020682,p.R44Q|ENST00000369880,p.R44Q|uc001kwk.3,p.R44Q|uc001kwj.3,p.R46Q|uc009xxh.3,p.R44Q	protein_coding	uc009xxh.3	nonsynonymous SNV	exon3	c.G131A	p.R44Q	CVTTARPVPKHIREALQNVHEEVAL	CVTTARPVPKHIQEALQNVHEEVAL	2.0	10.0	unscreened	-	4037_10:104629929-104629929 G>A_CVTTARPVPKHIQEALQNVHEEVAL
11:128680764-128680764 A>G	0.0	4037	LUNG	-	-	-	1	FLI1	uc010sbu.2,p.S414G|uc010sbv.2,p.S381G|uc010sbt.2,p.S221G|NM_001271010,p.S348G|NM_001271012,p.S221G|ENST00000534087,p.S381G|ENST00000281428,p.S348G|NM_002017,p.S414G|ENST00000525560,p.S221G|uc009zci.3,p.S348G|ENST00000429175,p.S414G|NM_001167681,p.S381G|ENST00000344954,p.S381G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sbv.2	nonsynonymous SNV	exon10	c.A1141G	p.S381G	PPHPSSMPVTSSSFFGAASQYWTSP	PPHPSSMPVTSSGFFGAASQYWTSP	6.0	7.0	unscreened	-	4037_11:128680764-128680764 A>G_PPHPSSMPVTSSGFFGAASQYWTSP
16:4164112-4164113 AC>-	0.0	4037	LUNG	-	-	-	-	ADCY9	NM_001116,p.C444fs|uc002cvx.3,p.C444fs|ENST00000294016,p.C444fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002cvx.3	frameshift deletion	exon2	c.1331_1332del	p.C444fs	ETKCEKISTLGDCYYCVAGCPEPRA	ETKCEKISTLGDLLLRGGLSRAPGRPCLLLHRDGPGHDQGHRAVLPGEEGDGEHESRGAHGHRPLRHPGHEEV	6.0	1.0	unscreened	-	4037_16:4164112-4164113 AC>-_ETKCEKISTLGDLLLRGGLSRAPGRPCLLLHRDGPGHDQGHRAVLPGEEGDGEHESRGAHGHRPLRHPGHEEV
13:43500556-43500557 AG>-	0.0	4037	LUNG	-	-	-	-	EPSTI1	ENST00000313624,p.A191fs|NM_033255,p.A191fs|uc001uyx.2,p.A191fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uyx.2	frameshift deletion	exon7	c.572_573del	p.A191fs	REAFREHQQYKTAEFLSKLNTESPD	REAFREHQQYKTGVLEQTEHRIARQKCLSKCCLWPTILNMGQKLGLQRFSKGRRKQKIAKDEG	8.0	8.0	unscreened	-	4037_13:43500556-43500557 AG>-_REAFREHQQYKTGVLEQTEHRIARQKCLSKCCLWPTILNMGQKLGLQRFSKGRRKQKIAKDEG
8:145161842-145161842 A>T	1.0	4037	LUNG	-	-	-	-	MAF1	ENST00000534811,p.E60V	protein_coding	ENST00000534811	nonsynonymous SNV	exon2	c.A179T	p.E60V	EEESRSGGSGAEETSTMEEDRCVMG	EEESRSGGSGAEVTSTMEEDRCVMG	10.0	8.0	unscreened	-	4037_8:145161842-145161842 A>T_EEESRSGGSGAEVTSTMEEDRCVMG
12:57038592-57038592 T>G	1.0	4037	LUNG	-	-	-	-	ATP5B	NM_001686,p.D153A|ENST00000262030,p.D153A|ENST00000552919,p.D153A|uc001slr.3,p.D153A|ENST00000551020,p.D92A	protein_coding, processed_transcript	uc001slr.3	nonsynonymous SNV	exon3	c.A458C	p.D153A	LGRIMNVIGEPIDERGPIKTKQFAP	LGRIMNVIGEPIAERGPIKTKQFAP	10.0	10.0	-	-	4037_12:57038592-57038592 T>G_LGRIMNVIGEPIAERGPIKTKQFAP
8:145161842-145161842 A>T	1.0	4037	LUNG	-	-	-	-	MAF1	ENST00000534585,p.E272V|NM_032272,p.E242V|uc003zbc.1,p.E242V|ENST00000532522,p.E242V|ENST00000322428,p.E242V	protein_coding	uc003zbc.1	nonsynonymous SNV	exon7	c.A725T	p.E242V	EEESRSGGSGAEETSTMEEDRVPVI	EEESRSGGSGAEVTSTMEEDRVPVI	10.0	8.0	unscreened	-	4037_8:145161842-145161842 A>T_EEESRSGGSGAEVTSTMEEDRVPVI
10:64573124-64573127 TCTT>-	0.0	4037	LUNG	-	-	-	-	EGR2	ENST00000242480,p.K424fs|uc009xph.3,p.K424fs|NM_001136178,p.K424fs|ENST00000411732,p.K374fs|uc001jmi.3,p.K424fs|uc010qim.2,p.K424fs|NM_001136177,p.K424fs|ENST00000439032,p.K424fs|uc010qio.2,p.K437fs|NM_000399,p.K424fs|uc010qin.2,p.K374fs|NM_001136179,p.K374fs	protein_coding, processed_transcript	uc010qio.2	frameshift deletion	exon3	c.1310_1313del	p.K437fs	ERKRHTKIHLRQKERKSSAPSASVP	ERKRHTKIHLRQSGKAVPPLHRCQPPLQPPALGACSLGVPCAAVTAAVLAEGRSPLAPLGPGHL	6.0	7.0	unscreened	-	4037_10:64573124-64573127 TCTT>-_ERKRHTKIHLRQSGKAVPPLHRCQPPLQPPALGACSLGVPCAAVTAAVLAEGRSPLAPLGPGHL
3:122437274-122437274 T>G	1.0	4037	LUNG	-	-	-	-	PARP14	ENST00000460683,p.S1267A|NM_017554,p.S1426A|ENST00000474629,p.S1426A|uc021xdc.1,p.S1290A|uc003efr.3,p.S1143A|uc003efs.1,p.S1143A|uc003efq.4,p.S1426A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xdc.1	nonsynonymous SNV	exon11	c.T3868G	p.S1290A	KKNHLVLEKKTESATFRVCGENVTC	KKNHLVLEKKTEAATFRVCGENVTC	9.0	9.0	unscreened	-	4037_3:122437274-122437274 T>G_KKNHLVLEKKTEAATFRVCGENVTC
12:6646516-6646516 A>C	1.0	4037	LUNG	-	-	-	-	GAPDH	ENST00000396856,p.K87T|NM_001289746,p.K162T|ENST00000396858,p.K120T|NM_002046,p.K162T|NM_001289745,p.K162T|uc001qop.2,p.K162T|uc031qfw.1,p.K120T|NM_001256799,p.K120T|ENST00000229239,p.K162T|ENST00000396859,p.K162T|ENST00000396861,p.K162T	retained_intron, protein_coding, processed_transcript	uc031qfw.1	nonsynonymous SNV	exon6	c.A359C	p.K120T	ASCTTNCLAPLAKVIHDNFGIVEGL	ASCTTNCLAPLATVIHDNFGIVEGL	10.0	7.0	-	-	4037_12:6646516-6646516 A>C_ASCTTNCLAPLATVIHDNFGIVEGL
12:46245979-46245979 T>G	1.0	4037	LUNG	-	-	-	1	ARID2	uc001ros.1,p.V1358G|NM_152641,p.V1358G|ENST00000422737,p.V1209G|ENST00000444670,p.V968G|uc001rou.1,p.V692G|uc001ror.3,p.V1358G|uc009zkg.1,p.V814G|uc009zkh.1,p.V985G|ENST00000334344,p.V1358G	retained_intron, protein_coding, processed_transcript	uc009zkh.1	nonsynonymous SNV	exon7	c.T2954G	p.V985G	MQDIKSDLRKPLVNGICDFDKGDGS	MQDIKSDLRKPLGNGICDFDKGDGS	7.0	7.0	unscreened	-	4037_12:46245979-46245979 T>G_MQDIKSDLRKPLGNGICDFDKGDGS
12:106633373-106633373 A>C	1.0	4037	LUNG	-	-	-	-	CKAP4	uc001tlk.3,p.L413R|ENST00000378026,p.L413R|NM_006825,p.L413R	protein_coding, processed_transcript	uc001tlk.3	nonsynonymous SNV	exon2	c.T1238G	p.L413R	ALQQKSQGLDSRLQHVEDGVLSMQV	ALQQKSQGLDSRRQHVEDGVLSMQV	10.0	10.0	-	-	4037_12:106633373-106633373 A>C_ALQQKSQGLDSRRQHVEDGVLSMQV
8:145002083-145002083 T>C	1.0	4037	LUNG	-	-	-	-	PLEC	ENST00000354958,p.K1091R|NM_201383,p.K1117R|NM_201382,p.K1113R|NM_000445,p.K1140R|ENST00000398774,p.K1081R|ENST00000345136,p.K1113R|NM_201379,p.K1091R|uc003zae.1,p.K1081R|uc003zaf.1,p.K1250R|uc003zaj.2,p.K1140R|NM_201381,p.K1081R|uc003zah.2,p.K1099R|NM_201378,p.K1099R|ENST00000354589,p.K1113R|NM_201380,p.K1250R|ENST00000357649,p.K1117R|ENST00000436759,p.K1140R|NM_201384,p.K1113R|uc003zad.2,p.K1113R|ENST00000356346,p.K1099R|ENST00000322810,p.K1250R|uc003zab.1,p.K1113R|ENST00000527096,p.K1136R|uc003zac.1,p.K1117R|uc003zag.1,p.K1091R	retained_intron, protein_coding	uc003zaj.2	nonsynonymous SNV	exon27	c.A3419G	p.K1140R	AEEVLRAHEEQLKEAQAVPATLPEL	AEEVLRAHEEQLREAQAVPATLPEL	10.0	1.0	unscreened	-	4037_8:145002083-145002083 T>C_AEEVLRAHEEQLREAQAVPATLPEL
12:56818669-56818669 A>C	1.0	4037	LUNG	-	-	-	-	TIMELESS	NM_003920,p.V582G|ENST00000553532,p.V582G|uc001slf.2,p.V582G|ENST00000229201,p.V581G	retained_intron, protein_coding	uc001slf.2	nonsynonymous SNV	exon15	c.T1745G	p.V582G	CAQNSELSMDSVVPFDAASEVPVEE	CAQNSELSMDSVGPFDAASEVPVEE	7.0	8.0	unscreened	-	4037_12:56818669-56818669 A>C_CAQNSELSMDSVGPFDAASEVPVEE
16:5115903-5115903 T>A	0.0	4037	LUNG	-	-	-	-	C16orf89	ENST00000422873,p.S41C|ENST00000350219,p.S41C	retained_intron, protein_coding	ENST00000422873	nonsynonymous SNV	exon1	c.A121T	p.S41C	RVTSSEQRPAMASLGLLLLLLLTAL	RVTSSEQRPAMACLGLLLLLLLTAL	5.0	1.0	unscreened	-	4037_16:5115903-5115903 T>A_RVTSSEQRPAMACLGLLLLLLLTAL
16:2114286-2114286 A>G	1.0	4037	LUNG	-	-	-	1	TSC2	ENST00000568454,p.N497S|NM_000548,p.N486S|ENST00000353929,p.N486S|ENST00000350773,p.N486S|uc010uvw.2,p.N437S|uc002coo.3,p.N486S|uc002con.3,p.N486S|NM_001077183,p.N486S|NM_001114382,p.N486S|uc002cop.3,p.N286S|ENST00000401874,p.N486S|ENST00000382538,p.N437S|ENST00000219476,p.N486S|uc010uvv.2,p.N449S|ENST00000439673,p.N449S|uc010bsd.3,p.N486S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uvw.2	nonsynonymous SNV	exon14	c.A1310G	p.N437S	LINRQFYEEELINSVVISQLSHIPE	LINRQFYEEELISSVVISQLSHIPE	8.0	10.0	-	-	4037_16:2114286-2114286 A>G_LINRQFYEEELISSVVISQLSHIPE
7:97821785-97821785 A>C	0.0	4037	LUNG	-	-	-	-	LMTK2	ENST00000297293,p.S670R|NM_014916,p.S670R|uc003upd.2,p.S670R	protein_coding, processed_transcript	uc003upd.2	nonsynonymous SNV	exon11	c.A2008C	p.S670R	NGVQADFKPATLSSSLDNPKESVIT	NGVQADFKPATLRSSLDNPKESVIT	5.0	6.0	unscreened	-	4037_7:97821785-97821785 A>C_NGVQADFKPATLRSSLDNPKESVIT
X:152969415-152969415 T>G	1.0	4037	LUNG	-	-	-	-	BCAP31	uc011mza.1,p.K159T|uc004fid.3,p.K226T|NM_001139441,p.K159T|ENST00000441714,p.K159T|ENST00000423827,p.K159T|ENST00000345046,p.K159T|ENST00000429550,p.K159T|NM_001139457,p.K226T|ENST00000442093,p.K159T|ENST00000458587,p.K226T|uc004fie.2,p.K159T|uc011myz.1,p.K159T|NM_005745,p.K159T|ENST00000416815,p.K159T|NM_001256447,p.K159T	protein_coding, processed_transcript	uc011mza.1	nonsynonymous SNV	exon5	c.A476C	p.K159T	AKKYMEENDQLKKGAAVDGGKLDVG	AKKYMEENDQLKTGAAVDGGKLDVG	10.0	6.0	unscreened	-	4037_X:152969415-152969415 T>G_AKKYMEENDQLKTGAAVDGGKLDVG
19:53456012-53456012 T>G	0.0	4037	LUNG	-	-	-	-	ZNF816,ZNF816-ZNF321P	ENST00000438970,p.E61A	protein_coding	ENST00000438970	nonsynonymous SNV	exon3	c.A182C	p.E61A	YRAVMLENYRNLEFVEFCSCCPGWS	YRAVMLENYRNLAFVEFCSCCPGWS	7.0	1.0	unscreened	-	4037_19:53456012-53456012 T>G_YRAVMLENYRNLAFVEFCSCCPGWS
6:152576836-152576836 A>G	0.0	4037	LUNG	-	-	-	-	SYNE1	ENST00000367255,p.Y6384H|ENST00000341594,p.Y5996H|uc003qos.4,p.Y908H|ENST00000423061,p.Y6313H|ENST00000356820,p.Y908H|NM_033071,p.Y6313H|ENST00000265368,p.Y6384H|uc003qou.4,p.Y6384H|uc003qot.4,p.Y6313H|ENST00000448038,p.Y6313H|NM_182961,p.Y6384H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003qou.4	nonsynonymous SNV	exon103	c.T19150C	p.Y6384H	AKRQSIHLEQKLYDGVSATSTWLDD	AKRQSIHLEQKLHDGVSATSTWLDD	6.0	10.0	unscreened	-	4037_6:152576836-152576836 A>G_AKRQSIHLEQKLHDGVSATSTWLDD
21:45113146-45113146 A>C	1.0	4037	LUNG	-	-	-	-	RRP1B	ENST00000340648,p.K720T|uc002zdk.3,p.K720T|NM_015056,p.K720T|uc002zdl.3,p.K253T	retained_intron, protein_coding	uc002zdl.3	nonsynonymous SNV	exon5	c.A758C	p.K253T	TGPSRVAFDPEQKPLHGVLKTPTSS	TGPSRVAFDPEQTPLHGVLKTPTSS	8.0	3.0	unscreened	-	4037_21:45113146-45113146 A>C_TGPSRVAFDPEQTPLHGVLKTPTSS
1:166819163-166819163 G>T	1.0	4037	LUNG	-	-	-	-	POGK	uc001gdt.1,p.W449C|ENST00000536514,p.W364C|uc010plf.1,p.W331C|NM_017542,p.W449C|ENST00000367875,p.W449C|ENST00000367876,p.W449C|ENST00000537173,p.W331C|uc010ple.1,p.W364C	protein_coding	uc010plf.1	nonsynonymous SNV	exon3	c.G993T	p.W331C	RYGWMTEDLMQDWLEVVWRRRTGAV	RYGWMTEDLMQDCLEVVWRRRTGAV	9.0	6.0	unscreened	-	4037_1:166819163-166819163 G>T_RYGWMTEDLMQDCLEVVWRRRTGAV
X:18926142-18926142 T>A	1.0	4037	LUNG	-	-	-	-	PHKA2	ENST00000379942,p.Q798L|uc004cyv.4,p.Q798L|NM_000292,p.Q798L	protein_coding, processed_transcript	uc004cyv.4	nonsynonymous SNV	exon22	c.A2393T	p.Q798L	IKGPSWDTNLSGQHGVTVQNLLGEL	IKGPSWDTNLSGLHGVTVQNLLGEL	7.0	10.0	unscreened	-	4037_X:18926142-18926142 T>A_IKGPSWDTNLSGLHGVTVQNLLGEL
19:9869299-9869299 T>C	1.0	4037	LUNG	-	-	-	-	ZNF846	ENST00000592859,p.R23G|ENST00000588267,p.R23G|ENST00000589412,p.R151G|ENST00000397902,p.R152G|uc002mmb.1,p.R152G|uc002mmc.1,p.R23G|NM_001077624,p.R152G|uc010dww.3,p.R23G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dww.3	nonsynonymous SNV	exon2	c.A67G	p.R23G	KTSEDNQSGKALRKNFPHSFYKKSH	KTSEDNQSGKALGKNFPHSFYKKSH	4.0	8.0	unscreened	-	4037_19:9869299-9869299 T>C_KTSEDNQSGKALGKNFPHSFYKKSH
4:22422503-22422503 A>C	0.0	4037	LUNG	-	-	-	-	GPR125	ENST00000502482,p.C605W|uc003gqo.4,p.C605W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gqo.4	nonsynonymous SNV	exon12	c.T1815G	p.C605W	VSNTFSSLALKVCYILQSFKTIYS	VSNTFSSLALKVWYILQSFKTIYS	5.0	9.0	unscreened	-	4037_4:22422503-22422503 A>C_VSNTFSSLALKVWYILQSFKTIYS
4:73957527-73957527 A>G	1.0	4037	LUNG	-	-	-	-	ANKRD17	NM_198889,p.S1689P|ENST00000509867,p.S1827P|ENST00000330838,p.S1689P|NM_032217,p.S1940P|NM_001286771,p.S1827P|uc003hgq.3,p.S1689P|uc003hgr.3,p.S1939P|uc003hgo.3,p.S1827P|ENST00000358602,p.S1940P|uc003hgp.3,p.S1940P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003hgr.3	nonsynonymous SNV	exon29	c.T5815C	p.S1939P	PVRPLSPARATNSPKPHMVPRHSNQ	PVRPLSPARATNPPKPHMVPRHSNQ	8.0	4.0	unscreened	-	4037_4:73957527-73957527 A>G_PVRPLSPARATNPPKPHMVPRHSNQ
6:132792727-132792727 T>G	1.0	4037	LUNG	-	-	-	-	STX7	ENST00000367937,p.I88L|uc003qdg.2,p.I88L|ENST00000367941,p.I88L|NM_003569,p.I88L	protein_coding, processed_transcript	uc003qdg.2	nonsynonymous SNV	exon5	c.A262C	p.I88L	LPTTPSEQRQRKIQKDRLVAEFTTS	LPTTPSEQRQRKLQKDRLVAEFTTS	8.0	2.0	unscreened	-	4037_6:132792727-132792727 T>G_LPTTPSEQRQRKLQKDRLVAEFTTS
8:48879971-48879972 CA>-	1.0	4037	LUNG	-	-	-	-	MCM4	uc003xqk.2,p.P367fs|uc003xql.2,p.P367fs|NM_005914,p.P367fs|ENST00000262105,p.P367fs|ENST00000520637,p.P85fs|ENST00000523944,p.P367fs|uc011ldi.2,p.P354fs|NM_182746,p.P367fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ldi.2	frameshift deletion	exon11	c.1061_1062del	p.P354fs	QESPEDMPAGQTPHTVILFAHNDLV	QESPEDMPAGQTPHSYPVCSQ	10.0	10.0	unscreened	-	4037_8:48879971-48879972 CA>-_QESPEDMPAGQTPHSYPVCSQ
17:38062144-38062144 T>C	1.0	4037	LUNG	-	-	-	-	GSDMB	uc010cwj.3,p.E328G|uc002hth.3,p.E315G|uc010cwi.3,p.E75G|uc002htg.3,p.E306G|ENST00000418519,p.E328G|NM_001042471,p.E315G|ENST00000520542,p.E319G|NM_018530,p.E306G|ENST00000394179,p.E323G|ENST00000360317,p.E328G|ENST00000309481,p.E315G|NM_001165958,p.E328G|ENST00000394175,p.E306G|uc010wem.2,p.E319G|uc031rab.1,p.E75G|uc010cwm.4,p.E75G|NM_001165959,p.E319G	retained_intron, protein_coding, nonsense_mediated_decay	uc031rab.1	nonsynonymous SNV	exon2	c.A224G	p.E75G	LSSLFNAAGVLVEARAKAILDFLDA	LSSLFNAAGVLVGARAKAILDFLDA	7.0	7.0	unscreened	-	4037_17:38062144-38062144 T>C_LSSLFNAAGVLVGARAKAILDFLDA
5:149772941-149772941 C>T	1.0	4037	LUNG	-	-	-	-	TCOF1	uc003lry.3,p.L1203F|uc003lrx.3,p.L1127F|ENST00000504761,p.L1203F|NM_001135243,p.L1203F|ENST00000445265,p.L1127F|uc003lsa.3,p.L1126F|ENST00000377797,p.L1204F|NM_000356,p.L1126F|uc011dch.2,p.L1166F|ENST00000439160,p.L1166F|ENST00000427724,p.L1165F|NM_001195141,p.L1165F|ENST00000451292,p.L1240F|NM_001135245,p.L1127F|ENST00000323668,p.L1126F|NM_001135244,p.L1166F|ENST00000513346,p.L1203F|uc003lrz.3,p.L1165F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dch.2	nonsynonymous SNV	exon22	c.C3496T	p.L1166F	SEDDVVAPSQSLLSGYMTPGLTPAN	SEDDVVAPSQSLFSGYMTPGLTPAN	7.0	7.0	-	-	4037_5:149772941-149772941 C>T_SEDDVVAPSQSLFSGYMTPGLTPAN
2:128872762-128872762 A>C	1.0	4037	LUNG	-	-	-	-	UGGT1	ENST00000259253,p.E254A|uc002tps.3,p.E254A|ENST00000375990,p.E230A|NM_020120,p.E254A|uc010fme.1,p.E129A|uc002tpr.3,p.E230A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fme.1	nonsynonymous SNV	exon5	c.A386C	p.E129A	SGYGVELAIKSTEYKAKDDTQVKGT	SGYGVELAIKSTAYKAKDDTQVKGT	8.0	4.0	unscreened	-	4037_2:128872762-128872762 A>C_SGYGVELAIKSTAYKAKDDTQVKGT
6:83075846-83075846 G>C	1.0	4037	LUNG	-	-	-	-	TPBG	uc003pjo.3,p.D390H|uc021zcc.1,p.D390H|ENST00000543496,p.D390H|NM_006670,p.D390H|NM_001166392,p.D390H|ENST00000369750,p.D390H|ENST00000535040,p.D390H|uc003pjn.4,p.D390H	protein_coding	uc021zcc.1	nonsynonymous SNV	exon1	c.G1168C	p.D390H	RKGIKKWMHNIRDACRDHMEGYHYR	RKGIKKWMHNIRHACRDHMEGYHYR	8.0	2.0	unscreened	-	4037_6:83075846-83075846 G>C_RKGIKKWMHNIRHACRDHMEGYHYR
19:14675669-14675669 T>A	0.0	4037	LUNG	-	-	-	-	TECR	ENST00000601187,p.L44Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000601187	nonsynonymous SNV	exon2	c.T131A	p.L44Q	WPITSITLSTLPLICQLGNFSIHMA	WPITSITLSTLPQICQLGNFSIHMA	10.0	2.0	unscreened	-	4037_19:14675669-14675669 T>A_WPITSITLSTLPQICQLGNFSIHMA
11:77583273-77583273 T>C	1.0	4037	LUNG	-	-	-	-	AAMDC	uc001oyq.3,p.V94A|ENST00000525034,p.V113A|ENST00000533193,p.V140A|NM_024684,p.V94A|ENST00000525409,p.V62A|ENST00000393427,p.V94A|ENST00000526415,p.V94A	protein_coding, processed_transcript, nonsense_mediated_decay	uc001oyq.3	nonsynonymous SNV	exon4	c.T281C	p.V94A	VEYLKKHGIDVRVLQTEQAVKEYNA	VEYLKKHGIDVRALQTEQAVKEYNA	5.0	5.0	unscreened	-	4037_11:77583273-77583273 T>C_VEYLKKHGIDVRALQTEQAVKEYNA
16:70154433-70154433 A>G	0.0	4037	LUNG	-	-	-	-	PDPR	ENST00000568530,p.Q13R|uc002eyf.1,p.Q13R|ENST00000288050,p.Q13R|ENST00000565186,p.Q13R|NM_017990,p.Q13R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002eyf.1	nonsynonymous SNV	exon3	c.A38G	p.Q13R	MMFYRLLSIVGRQRASPGWQNWSSA	MMFYRLLSIVGRRRASPGWQNWSSA	6.0	6.0	unscreened	-	4037_16:70154433-70154433 A>G_MMFYRLLSIVGRRRASPGWQNWSSA
10:70645168-70645168 C>A	1.0	4037	LUNG	-	-	-	-	STOX1	ENST00000421961,p.S429Y|uc001joq.3,p.S429Y|NM_001130161,p.S539Y|ENST00000298596,p.S539Y|uc021prw.1,p.S429Y|uc001jos.2,p.S539Y|NM_152709,p.S539Y|ENST00000399169,p.S539Y	protein_coding	uc021prw.1	nonsynonymous SNV	exon3	c.C1286A	p.S429Y	KEKPFQKPRSLDSSRIFDGKAKEPY	KEKPFQKPRSLDYSRIFDGKAKEPY	4.0	10.0	unscreened	-	4037_10:70645168-70645168 C>A_KEKPFQKPRSLDYSRIFDGKAKEPY
1:24664239-24664239 C>T	1.0	4037	LUNG	-	-	-	-	GRHL3	NM_198173,p.A267V|uc001bix.3,p.A267V|ENST00000342072,p.A174V|ENST00000361548,p.A267V|ENST00000236255,p.A272V|uc021oix.1,p.A221V|NM_001195010,p.A221V|uc001biz.3,p.A174V|uc001biy.3,p.A272V|uc021oiw.1,p.A267V|ENST00000356046,p.A221V|NM_198174,p.A267V|ENST00000350501,p.A267V|NM_021180,p.A272V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021oix.1	nonsynonymous SNV	exon6	c.C662T	p.A221V	KGQFYPVTLRTPAGGKGLALSSNKV	KGQFYPVTLRTPVGGKGLALSSNKV	4.0	9.0	unscreened	-	4037_1:24664239-24664239 C>T_KGQFYPVTLRTPVGGKGLALSSNKV
1:985026-985026 T>G	1.0	4037	LUNG	-	-	-	-	AGRN	uc001ack.2,p.L1532R|NM_198576,p.L1532R|ENST00000379370,p.L1532R	retained_intron, protein_coding, processed_transcript	uc001ack.2	nonsynonymous SNV	exon26	c.T4595G	p.L1532R	IRLLDVNNQRLELGIGPGAATRGSG	IRLLDVNNQRLERGIGPGAATRGSG	10.0	6.0	unscreened	-	4037_1:985026-985026 T>G_IRLLDVNNQRLERGIGPGAATRGSG
2:24431153-24431153 T>C	1.0	4037	LUNG	-	-	-	-	ITSN2	NM_006277,p.E1544G|ENST00000361999,p.E1517G|uc002rff.2,p.E1517G|uc002rfe.2,p.E1544G|ENST00000355123,p.E1544G|NM_019595,p.E1517G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002rff.2	nonsynonymous SNV	exon36	c.A4550G	p.E1517G	RTAWVQKIKAASEQYIDTEKKKREK	RTAWVQKIKAASGQYIDTEKKKREK	8.0	2.0	unscreened	-	4037_2:24431153-24431153 T>C_RTAWVQKIKAASGQYIDTEKKKREK
7:74564241-74564241 A>G	1.0	4037	LUNG	-	-	-	-	GTF2IRD2,GTF2IRD2B	ENST00000418185,p.Q210R|uc003ubu.3,p.Q493R|NM_001003795,p.Q663R|uc003ubt.3,p.Q663R|uc010lcd.3,p.Q416R|ENST00000312575,p.Q663R|NM_173537,p.Q663R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lcd.3	nonsynonymous SNV	exon15	c.A1247G	p.Q416R	ICCIIHPESLCAQKLKMDHVMDVVV	ICCIIHPESLCARKLKMDHVMDVVV	6.0	7.0	unscreened	-	4037_7:74564241-74564241 A>G_ICCIIHPESLCARKLKMDHVMDVVV
14:93754986-93754986 A>C	1.0	4037	LUNG	-	-	-	-	BTBD7	ENST00000555525,p.L418R	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000555525	nonsynonymous SNV	exon3	c.T1253G	p.L418R	QQSFQTAAYCLNLKYENPSKDNWTF	QQSFQTAAYCLNRKYENPSKDNWTF	8.0	6.0	unscreened	-	4037_14:93754986-93754986 A>C_QQSFQTAAYCLNRKYENPSKDNWTF
7:17861223-17861224 AC>-	1.0	4037	LUNG	-	-	-	-	SNX13	ENST00000409389,p.V596fs|ENST00000428135,p.V585fs|NM_015132,p.V585fs|uc010kuc.3,p.V382fs|uc003stw.1,p.V596fs|uc003stv.3,p.V585fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kuc.3	frameshift deletion	exon19	c.1144_1145del	p.V382fs	DHGKTYALYAITVHRRNLNSEEMWK	DHGKTYALYAITTPAQPKQ	8.0	5.0	unscreened	-	4037_7:17861223-17861224 AC>-_DHGKTYALYAITTPAQPKQ
3:69057604-69057604 C>G	0.0	4037	LUNG	-	-	-	-	EOGT	uc003dnl.3,p.V96L|ENST00000424374,p.V96L|ENST00000403140,p.V96L|uc003dnk.3,p.V96L|ENST00000456376,p.V96L|NM_173654,p.V96L|NM_001278689,p.V96L|ENST00000383701,p.V96L|ENST00000295571,p.V96L	retained_intron, protein_coding, nonsense_mediated_decay	uc003dnl.3	nonsynonymous SNV	exon5	c.G286C	p.V96L	KSCKPEFRFGYPVCSYVDMGWTDTL	KSCKPEFRFGYPLCSYVDMGWTDTL	5.0	9.0	unscreened	-	4037_3:69057604-69057604 C>G_KSCKPEFRFGYPLCSYVDMGWTDTL
12:15784471-15784471 A>G	1.0	4037	LUNG	-	-	-	-	EPS8	ENST00000542903,p.V390A|uc010shv.2,p.V390A|ENST00000540613,p.V390A|ENST00000281172,p.V650A|uc009zig.3,p.V390A|ENST00000543523,p.V650A|uc001rdb.3,p.V650A|ENST00000543612,p.V650A|uc009zif.3,p.V650A|NM_004447,p.V650A	retained_intron, protein_coding, nonsense_mediated_decay	uc010shv.2	nonsynonymous SNV	exon11	c.T1169C	p.V390A	PPSTPAPVPVSKVPANITRQNSSSS	PPSTPAPVPVSKAPANITRQNSSSS	7.0	10.0	unscreened	-	4037_12:15784471-15784471 A>G_PPSTPAPVPVSKAPANITRQNSSSS
7:129813766-129813766 A>G	0.0	4037	LUNG	-	-	-	-	TMEM209	ENST00000462753,p.V452A|ENST00000336804,p.V410A|NM_032842,p.V453A|uc003vpn.2,p.V453A|ENST00000397622,p.V453A|uc010lmc.1,p.V411A|NM_001301163,p.V411A|ENST00000473456,p.V411A	retained_intron, protein_coding	uc010lmc.1	nonsynonymous SNV	exon11	c.T1232C	p.V411A	TDLPTDSAIIMHVFCTYLDSRLPPH	TDLPTDSAIIMHAFCTYLDSRLPPH	6.0	2.0	unscreened	-	4037_7:129813766-129813766 A>G_TDLPTDSAIIMHAFCTYLDSRLPPH
11:123676880-123676880 A>C	0.0	4037	LUNG	-	-	-	-	OR6M1	uc010rzz.2,p.F60V|NM_001005325,p.F60V|ENST00000309154,p.F60V	protein_coding	uc010rzz.2	nonsynonymous SNV	exon1	c.T178G	p.F60V	WIDHRLQTPMYFFLSNLSFLDILYT	WIDHRLQTPMYFVLSNLSFLDILYT	1.0	8.0	unscreened	-	4037_11:123676880-123676880 A>C_WIDHRLQTPMYFVLSNLSFLDILYT
11:58949476-58949476 T>C	0.0	4037	LUNG	-	-	-	-	DTX4	ENST00000227451,p.L159P|NM_015177,p.L159P|uc001nns.2,p.L159P|ENST00000532982,p.L53P|uc001nnr.2,p.L53P|NM_001300727,p.L53P	retained_intron, protein_coding, processed_transcript	uc001nns.2	nonsynonymous SNV	exon2	c.T476C	p.L159P	TQRQRRVRRRLDLIYPMVTGTLPKA	TQRQRRVRRRLDPIYPMVTGTLPKA	9.0	2.0	unscreened	-	4037_11:58949476-58949476 T>C_TQRQRRVRRRLDPIYPMVTGTLPKA
18:44662716-44662716 A>T	1.0	4037	LUNG	-	-	-	-	HDHD2	NM_032124,p.L32H|ENST00000588940,p.L32H|ENST00000590481,p.L32H|ENST00000590815,p.L32H|ENST00000300605,p.L32H|ENST00000587388,p.L32H|uc002lcs.3,p.L32H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lcs.3	nonsynonymous SNV	exon2	c.T95A	p.L32H	IEDAAVPGAQEALKRLRGASVIIRF	IEDAAVPGAQEAHKRLRGASVIIRF	9.0	2.0	unscreened	-	4037_18:44662716-44662716 A>T_IEDAAVPGAQEAHKRLRGASVIIRF
3:113524350-113524350 A>G	0.0	4037	LUNG	-	-	-	-	ATP6V1A	ENST00000538620,p.K547R|uc011bik.2,p.K547R|uc003eao.3,p.K580R|NM_001690,p.K580R|ENST00000273398,p.K580R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bik.2	nonsynonymous SNV	exon15	c.A1640G	p.K547R	SIIREHMGDILYKLSSMKFKDPLKD	SIIREHMGDILYRLSSMKFKDPLKD	9.0	2.0	unscreened	-	4037_3:113524350-113524350 A>G_SIIREHMGDILYRLSSMKFKDPLKD
21:38537863-38537863 A>G	1.0	4037	LUNG	-	-	-	-	TTC3	uc002yvz.3,p.Q1116R|NM_001001894,p.Q1116R|ENST00000399017,p.Q1116R|ENST00000355666,p.Q1116R|uc002ywa.3,p.Q1116R|uc002ywd.1,p.Q180R|uc011aee.1,p.Q806R|ENST00000438055,p.Q1098R|ENST00000418766,p.Q1116R|uc002ywc.3,p.Q806R|ENST00000354749,p.Q1116R|uc002ywb.3,p.Q1116R|NM_003316,p.Q1116R|uc010gnf.3,p.Q881R	retained_intron, protein_coding, processed_transcript	uc011aee.1	nonsynonymous SNV	exon25	c.A2417G	p.Q806R	KQKCSTLYDYFSQFLEEHGPLDMSN	KQKCSTLYDYFSRFLEEHGPLDMSN	10.0	8.0	-	-	4037_21:38537863-38537863 A>G_KQKCSTLYDYFSRFLEEHGPLDMSN
3:128204665-128204665 T>C	0.0	4037	LUNG	-	-	-	1	GATA2	ENST00000430265,p.D259G|NM_032638,p.D259G|uc003ekm.3,p.D259G|NM_001145662,p.D259G|ENST00000487848,p.D259G|uc003eko.2,p.D259G|ENST00000341105,p.D259G|uc003ekn.3,p.D259G|NM_001145661,p.D259G	protein_coding, processed_transcript	uc003eko.2	nonsynonymous SNV	exon3	c.A776G	p.D259G	PTYPSYVPAAAHDYSSGLFHPGGFL	PTYPSYVPAAAHGYSSGLFHPGGFL	6.0	1.0	unscreened	-	4037_3:128204665-128204665 T>C_PTYPSYVPAAAHGYSSGLFHPGGFL
19:36230440-36230440 T>G	1.0	4037	LUNG	-	-	-	-	IGFLR1	ENST00000592537,p.E270A|NM_024660,p.E270A|ENST00000592889,p.E82A|uc010eej.3,p.E350A|ENST00000588992,p.E102A|uc002obb.3,p.E82A|uc002obc.3,p.E270A|ENST00000344990,p.E82A|uc002obd.4,p.E270A|ENST00000246532,p.E270A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010eej.3	nonsynonymous SNV	exon11	c.A1049C	p.E350A	EVLEELIVLLDPEPGPGGGMAHGTT	EVLEELIVLLDPAPGPGGGMAHGTT	7.0	6.0	unscreened	-	4037_19:36230440-36230440 T>G_EVLEELIVLLDPAPGPGGGMAHGTT
7:151873319-151873319 T>G	0.0	4037	LUNG	-	-	-	1	KMT2C	ENST00000262189,p.Q3073H|uc003wkz.3,p.Q2134H|NM_170606,p.Q3073H|uc003wky.3,p.Q582H|ENST00000355193,p.Q3073H|uc003wla.3,p.Q3073H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003wla.3	nonsynonymous SNV	exon38	c.A9219C	p.Q3073H	QERQEQQQQRQMQAMIRQRSEPFFP	QERQEQQQQRQMHAMIRQRSEPFFP	8.0	1.0	unscreened	-	4037_7:151873319-151873319 T>G_QERQEQQQQRQMHAMIRQRSEPFFP
13:43500556-43500557 AG>-	0.0	4037	LUNG	-	-	-	-	EPSTI1	NM_001002264,p.A191fs|uc001uyw.2,p.A191fs|ENST00000398762,p.A191fs|ENST00000313640,p.A191fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uyw.2	frameshift deletion	exon7	c.572_573del	p.A191fs	REAFREHQQYKTAEFLSKLNTESPD	REAFREHQQYKTGVLEQTEHRIARQKCLSKCCLWPTILNMETSYPA	8.0	8.0	unscreened	-	4037_13:43500556-43500557 AG>-_REAFREHQQYKTGVLEQTEHRIARQKCLSKCCLWPTILNMETSYPA
3:120764313-120764313 C>T	0.0	4037	LUNG	-	-	-	-	STXBP5L	ENST00000471262,p.T134I|ENST00000497029,p.T134I|ENST00000273666,p.T134I|ENST00000472879,p.T134I|uc011bji.2,p.T134I|ENST00000492541,p.T134I|NM_014980,p.T134I|uc003eec.4,p.T134I|ENST00000471454,p.T134I	protein_coding, nonsense_mediated_decay	uc011bji.2	nonsynonymous SNV	exon5	c.C401T	p.T134I	NEGALVSASSDDTLHLWNLRQKRPA	NEGALVSASSDDILHLWNLRQKRPA	2.0	8.0	unscreened	-	4037_3:120764313-120764313 C>T_NEGALVSASSDDILHLWNLRQKRPA
10:86198453-86198453 T>A	1.0	4037	LUNG	-	-	-	-	CCSER2	NM_018999,p.L685H|ENST00000224756,p.L685H|uc010qmd.1,p.L685H|uc001kdh.1,p.L685H|uc010qme.1,p.L112H|ENST00000372088,p.L685H|NM_001284240,p.L685H|NM_001284243,p.L112H|ENST00000543283,p.L112H|NM_001284242,p.L112H	protein_coding, processed_transcript	uc010qme.1	nonsynonymous SNV	exon3	c.T335A	p.L112H	TAVKTQLLKLKRLLHQHDGSGSLHD	TAVKTQLLKLKRHLHQHDGSGSLHD	9.0	7.0	-	-	4037_10:86198453-86198453 T>A_TAVKTQLLKLKRHLHQHDGSGSLHD
2:73680021-73680021 A>G	0.0	4037	LUNG	-	-	-	-	ALMS1	ENST00000423048,p.T400A|ENST00000377715,p.T2122A|uc002sjg.3,p.T1510A|ENST00000264448,p.T2122A|uc002sjf.1,p.T2080A|uc002sjh.1,p.T1510A|ENST00000409009,p.T2080A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002sjh.1	nonsynonymous SNV	exon1	c.A4528G	p.T1510A	GSHVTEDVLKVSTIPGPAGQKTVLP	GSHVTEDVLKVSAIPGPAGQKTVLP	6.0	3.0	unscreened	-	4037_2:73680021-73680021 A>G_GSHVTEDVLKVSAIPGPAGQKTVLP
7:138968961-138968961 T>C	1.0	4037	LUNG	-	-	-	-	UBN2	uc011kqr.2,p.S1104P|ENST00000473989,p.S1104P|NM_173569,p.S1104P|ENST00000288561,p.S1021P	protein_coding	uc011kqr.2	nonsynonymous SNV	exon15	c.T3310C	p.S1104P	SSPNALVAQGSHSSTNSPVHKQPSG	SSPNALVAQGSHPSTNSPVHKQPSG	6.0	8.0	unscreened	-	4037_7:138968961-138968961 T>C_SSPNALVAQGSHPSTNSPVHKQPSG
2:190532096-190532096 T>C	0.0	4037	LUNG	-	-	-	-	ASNSD1	NM_019048,p.L413P|ENST00000260952,p.L413P|uc002uqt.3,p.L413P|ENST00000606910,p.L132P|ENST00000420250,p.L413P	protein_coding	uc002uqt.3	nonsynonymous SNV	exon4	c.T1238C	p.L413P	VSVPDRITGRAGLKELQAVSPSRIW	VSVPDRITGRAGPKELQAVSPSRIW	8.0	5.0	unscreened	-	4037_2:190532096-190532096 T>C_VSVPDRITGRAGPKELQAVSPSRIW
19:38028414-38028414 ->T	0.0	4037	LUNG	-	-	ID=COSM1271798;OCCURENCE=1(oesophagus)	-	ZNF793	uc010xts.2,p.C285fs|ENST00000542455,p.C285fs|uc010efm.3,p.C285fs|ENST00000445217,p.C285fs|ENST00000587143,p.C285fs|NM_001013659,p.C285fs	protein_coding, nonsense_mediated_decay	uc010xts.2	frameshift insertion	exon6	c.855dupT	p.C285fs	HQRIHTGVRPFECFFCGKAFTQKSH	HQRIHTGVRPFECFFLWESLYPEVTPHRTSENTHRRETLCLQ	4.0	5.0	unscreened	-	4037_19:38028414-38028414 ->T_HQRIHTGVRPFECFFLWESLYPEVTPHRTSENTHRRETLCLQ
12:121442149-121442149 T>C	1.0	4037	LUNG	-	-	-	-	C12orf43	NM_001286198,p.K158R|ENST00000288757,p.K199R|uc010szp.1,p.K189R|NM_001286197,p.K167R|ENST00000539736,p.K189R|ENST00000445832,p.K169R|NM_001286192,p.K200R|uc001tzh.1,p.K199R|NM_001286191,p.K230R|ENST00000537817,p.K200R|NM_022895,p.K199R|ENST00000538296,p.K137R|uc010szo.1,p.K158R|ENST00000366211,p.K158R|NM_001286195,p.K189R|uc009zxa.1,p.K230R|uc001tzi.1,p.K200R|ENST00000535367,p.K154R|NM_001286196,p.K188R	retained_intron, protein_coding, nonsense_mediated_decay	uc010szp.1	nonsynonymous SNV	exon6	c.A566G	p.K189R	AKKKRKLKKKAKKVASVDSAVAATT	AKKKRKLKKKAKRVASVDSAVAATT	6.0	8.0	unscreened	-	4037_12:121442149-121442149 T>C_AKKKRKLKKKAKRVASVDSAVAATT
7:99027374-99027374 A>G	1.0	4037	LUNG	-	-	-	-	ATP5J2-PTCD1,PTCD1	ENST00000413834,p.V266A|ENST00000292478,p.V217A|NM_001198879,p.V266A|uc011kiw.2,p.V266A|NM_015545,p.V217A|ENST00000555673,p.V266A|uc003uqh.3,p.V217A	protein_coding, processed_transcript, nonsense_mediated_decay	uc011kiw.2	nonsynonymous SNV	exon5	c.T797C	p.V266A	EPSDATYTALFNVCAESPWKDSALQ	EPSDATYTALFNACAESPWKDSALQ	6.0	10.0	unscreened	-	4037_7:99027374-99027374 A>G_EPSDATYTALFNACAESPWKDSALQ
4:57209052-57209053 AC>-	1.0	4037	LUNG	-	-	-	-	AASDH	uc011caa.2,p.L744fs|ENST00000602986,p.L744fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011caa.2	frameshift deletion	exon12	c.2232_2233del	p.L744fs	TLLFPTMLLTVYLYWLCRWEFTLLY	TLLFPTMLLTVYLLAV	7.0	7.0	unscreened	-	4037_4:57209052-57209053 AC>-_TLLFPTMLLTVYLLAV
16:14758751-14758751 A>G	0.0	4037	LUNG	-	-	-	-	BFAR	ENST00000565478,p.Q21R|ENST00000563971,p.Q203R|ENST00000426842,p.Q200R|ENST00000261658,p.Q328R|ENST00000564078,p.Q43R|uc002dco.3,p.Q328R|uc010uzh.2,p.Q200R|NM_016561,p.Q328R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uzh.2	nonsynonymous SNV	exon5	c.A599G	p.Q200R	TKLLDLKEPTWKQWREFLVKYSFLP	TKLLDLKEPTWKRWREFLVKYSFLP	8.0	7.0	unscreened	-	4037_16:14758751-14758751 A>G_TKLLDLKEPTWKRWREFLVKYSFLP
18:44662716-44662716 A>T	1.0	4037	LUNG	-	-	-	-	HDHD2	ENST00000592591,p.L32H|ENST00000591480,p.L32H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000592591	nonsynonymous SNV	exon3	c.T95A	p.L32H	IEDAAVPGAQEALKRFVTNTTKESK	IEDAAVPGAQEAHKRFVTNTTKESK	9.0	2.0	unscreened	-	4037_18:44662716-44662716 A>T_IEDAAVPGAQEAHKRFVTNTTKESK
2:166775794-166775794 C>G	1.0	4037	LUNG	-	-	-	-	TTC21B	uc002udk.3,p.D556H|ENST00000243344,p.D556H|NM_024753,p.D556H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002udk.3	nonsynonymous SNV	exon13	c.G1666C	p.D556H	LCSQSLELCLSYDFKVRDYPLYHLI	LCSQSLELCLSYHFKVRDYPLYHLI	5.0	9.0	unscreened	-	4037_2:166775794-166775794 C>G_LCSQSLELCLSYHFKVRDYPLYHLI
19:9677481-9677481 A>G	1.0	4037	LUNG	-	-	-	-	ZNF121	uc010xkp.1,p.L103P|ENST00000591447,p.L103P|uc010xkq.1,p.L103P|NM_001008727,p.L103P|ENST00000320451,p.L103P|ENST00000586602,p.L103P|uc010dwt.2,p.L103P	protein_coding, processed_transcript	uc010xkq.1	nonsynonymous SNV	exon5	c.T308C	p.L103P	SDCEEAFVDQSHLQANRITHNGETL	SDCEEAFVDQSHPQANRITHNGETL	8.0	10.0	-	-	4037_19:9677481-9677481 A>G_SDCEEAFVDQSHPQANRITHNGETL
11:19259537-19259537 T>G	1.0	4037	LUNG	-	-	-	-	E2F8	NM_001256371,p.Q53P|NM_024680,p.Q53P|ENST00000250024,p.Q53P|uc001mpm.3,p.Q53P|uc001mpn.5,p.Q53P|uc001mpo.2,p.Q53P|ENST00000532666,p.Q53P|ENST00000527884,p.Q53P|NM_001256372,p.Q53P	protein_coding, processed_transcript	uc001mpo.2	nonsynonymous SNV	exon3	c.A158C	p.Q53P	PLTTPTKPKEGSQGEPWTPTANLKM	PLTTPTKPKEGSPGEPWTPTANLKM	5.0	9.0	unscreened	-	4037_11:19259537-19259537 T>G_PLTTPTKPKEGSPGEPWTPTANLKM
10:18803953-18803953 T>G	0.0	4037	LUNG	-	-	-	-	CACNB2	uc001ipz.2,p.L185V|ENST00000352115,p.L239V|NM_201572,p.L211V|uc001ips.2,p.L239V|uc001ipv.3,p.L211V|ENST00000377331,p.L211V|NM_201597,p.L239V	retained_intron, protein_coding, processed_transcript	uc001ipz.2	nonsynonymous SNV	exon6	c.T553G	p.L185V	SADEQDQWKTAGLFWRFTTEHTPPY	SADEQDQWKTAGVFWRFTTEHTPPY	2.0	2.0	unscreened	-	4037_10:18803953-18803953 T>G_SADEQDQWKTAGVFWRFTTEHTPPY
19:20229835-20229835 A>G	0.0	4037	LUNG	-	-	-	-	ZNF90	uc002nor.2,p.K491R|ENST00000418063,p.K491R|NM_007138,p.K491R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nor.2	nonsynonymous SNV	exon4	c.A1472G	p.K491R	KLYKCQECDKAFKYSSALSTHKIIH	KLYKCQECDKAFRYSSALSTHKIIH	7.0	5.0	unscreened	-	4037_19:20229835-20229835 A>G_KLYKCQECDKAFRYSSALSTHKIIH
7:1527550-1527550 G>A	0.0	4037	LUNG	-	-	-	-	INTS1	uc003skp.1,p.R135W|NM_001080453,p.R788W|ENST00000389470,p.R916W|uc003skn.2,p.R788W|ENST00000404767,p.R788W	retained_intron, protein_coding, processed_transcript	uc003skp.1	nonsynonymous SNV	exon5	c.C403T	p.R135W	SYPPCTLTDEETRTEMLNRELQTAQ	SYPPCTLTDEETWTEMLNRELQTAQ	7.0	1.0	unscreened	-	4037_7:1527550-1527550 G>A_SYPPCTLTDEETWTEMLNRELQTAQ
3:120320102-120320102 A>G	1.0	4037	LUNG	-	-	-	-	NDUFB4	uc003edt.3,p.R109G|ENST00000485064,p.R109G|NM_001168331,p.R109G	retained_intron, protein_coding, nonsense_mediated_decay	uc003edt.3	nonsynonymous SNV	exon2	c.A325G	p.R109G	PLIFIYYIIKTERVSIQTRCLVFE	PLIFIYYIIKTEGVSIQTRCLVFE	10.0	9.0	-	-	4037_3:120320102-120320102 A>G_PLIFIYYIIKTEGVSIQTRCLVFE
3:49934008-49934008 A>C	1.0	4037	LUNG	-	-	-	-	MST1R	uc011bdd.2,p.S802A	retained_intron, protein_coding, nonsense_mediated_decay	uc011bdd.2	nonsynonymous SNV	exon9	c.T2404G	p.S802A	GQHLTSAWHLVLSFHDGLRAVESRQ	GQHLTSAWHLVLAFHDGLRAVESRQ	8.0	9.0	-	-	4037_3:49934008-49934008 A>C_GQHLTSAWHLVLAFHDGLRAVESRQ
8:145979624-145979624 A>T	0.0	4037	LUNG	-	-	-	-	ZNF251	ENST00000292562,p.L39H|NM_138367,p.L39H|uc003zdv.4,p.L39H	retained_intron, protein_coding, processed_transcript	uc003zdv.4	nonsynonymous SNV	exon3	c.T116A	p.L39H	AEGRQLGPQQRALYRDVMLENYGNV	AEGRQLGPQQRAHYRDVMLENYGNV	9.0	2.0	unscreened	-	4037_8:145979624-145979624 A>T_AEGRQLGPQQRAHYRDVMLENYGNV
3:49934008-49934008 A>C	1.0	4037	LUNG	-	-	-	-	MST1R	uc031rzw.1,p.S696A|ENST00000411578,p.S802A|NM_001244937,p.S802A|uc011bdc.2,p.S802A|ENST00000344206,p.S802A|ENST00000296474,p.S802A|NM_002447,p.S802A|uc003cxy.4,p.S802A	retained_intron, protein_coding, nonsense_mediated_decay	uc031rzw.1	nonsynonymous SNV	exon7	c.T2086G	p.S696A	GQHLTSAWHLVLSFHDGLRAVESRC	GQHLTSAWHLVLAFHDGLRAVESRC	8.0	9.0	unscreened	-	4037_3:49934008-49934008 A>C_GQHLTSAWHLVLAFHDGLRAVESRC
12:49421656-49421656 T>G	1.0	4037	LUNG	-	-	-	1	KMT2D	uc001rta.4,p.K4858T|ENST00000301067,p.K4858T|NM_003482,p.K4858T	retained_intron, protein_coding, processed_transcript	uc001rta.4	nonsynonymous SNV	exon47	c.A14573C	p.K4858T	EGKSPDTGPDWLKQFDAVLPGYTLK	EGKSPDTGPDWLTQFDAVLPGYTLK	8.0	2.0	unscreened	-	4037_12:49421656-49421656 T>G_EGKSPDTGPDWLTQFDAVLPGYTLK
7:6199083-6199083 G>C	1.0	4037	LUNG	-	-	-	-	USP42	uc011jwp.2,p.D1316H|ENST00000306177,p.D1316H|NM_032172,p.D1316H|uc011jwq.2,p.D1123H	retained_intron, protein_coding, nonsense_mediated_decay	uc011jwq.2	nonsynonymous SNV	exon15	c.G3367C	p.D1123H	DDRCRLFEYGQGD	DDRCRLFEYGQGH	6.0	3.0	unscreened	-	4037_7:6199083-6199083 G>C_DDRCRLFEYGQGH
2:55471284-55471284 A>C	1.0	4037	LUNG	-	-	-	-	MTIF2	ENST00000403721,p.L398V|ENST00000263629,p.L398V|NM_002453,p.L398V|NM_001005369,p.L398V|ENST00000394600,p.L398V|uc010yox.2,p.L67V|uc002ryn.3,p.L398V|uc002ryo.3,p.L398V	protein_coding, processed_transcript	uc010yox.2	nonsynonymous SNV	exon8	c.T199G	p.L67V	VLVAGKCWAKVRLMFDENGKTIDEA	VLVAGKCWAKVRVMFDENGKTIDEA	9.0	3.0	unscreened	-	4037_2:55471284-55471284 A>C_VLVAGKCWAKVRVMFDENGKTIDEA
9:135173582-135173582 T>G	0.0	4037	LUNG	-	-	-	-	SETX	uc004cbj.3,p.K1508T|uc010mzt.3,p.K1508T|ENST00000372169,p.K1889T|ENST00000436441,p.K131T|NM_015046,p.K1889T|ENST00000393220,p.K1889T|uc004cbk.3,p.K1889T|ENST00000224140,p.K1889T	protein_coding, processed_transcript	uc010mzt.3	nonsynonymous SNV	exon4	c.A4523C	p.K1508T	CIVISSLVTTQRKLKAMSLLGSRNQ	CIVISSLVTTQRTLKAMSLLGSRNQ	7.0	8.0	unscreened	-	4037_9:135173582-135173582 T>G_CIVISSLVTTQRTLKAMSLLGSRNQ
9:127643481-127643481 T>C	1.0	4037	LUNG	-	-	-	-	GOLGA1	ENST00000373555,p.E731G|uc004bpc.3,p.E731G|NM_002077,p.E731G	protein_coding, processed_transcript, nonsense_mediated_decay	uc004bpc.3	nonsynonymous SNV	exon22	c.A2192G	p.E731G	AVSVLLNFSQEEENMLKETLEYKMS	AVSVLLNFSQEEGNMLKETLEYKMS	6.0	6.0	unscreened	-	4037_9:127643481-127643481 T>C_AVSVLLNFSQEEGNMLKETLEYKMS
1:161018584-161018584 T>G	1.0	4037	LUNG	-	-	-	-	ARHGAP30	ENST00000368015,p.T566P|NM_001025598,p.T743P|ENST00000368013,p.T743P|uc001fxl.3,p.T743P|uc001fxm.3,p.T589P|NM_001287600,p.T595P|NM_001287602,p.T566P|uc009wtx.3,p.T416P	retained_intron, protein_coding, nonsense_mediated_decay	uc009wtx.3	nonsynonymous SNV	exon10	c.A1246C	p.T416P	AKGVEEPGGDEYTDEKEKEIEREED	AKGVEEPGGDEYPDEKEKEIEREED	7.0	10.0	unscreened	-	4037_1:161018584-161018584 T>G_AKGVEEPGGDEYPDEKEKEIEREED
1:173176248-173176248 T>G	0.0	4037	LUNG	-	-	-	-	TNFSF4	uc001giw.3,p.K23T|NM_003326,p.K23T|ENST00000281834,p.K23T	protein_coding, processed_transcript	uc001giw.3	nonsynonymous SNV	exon1	c.A68C	p.K23T	VGNAARPRFERNKLLLVASVIQGLG	VGNAARPRFERNTLLLVASVIQGLG	4.0	8.0	unscreened	-	4037_1:173176248-173176248 T>G_VGNAARPRFERNTLLLVASVIQGLG
2:15767265-15767265 T>G	1.0	4037	LUNG	-	-	-	-	DDX1	NM_004939,p.F561C|uc002rce.4,p.F561C|ENST00000233084,p.F561C|uc010yjq.2,p.F469C|ENST00000381341,p.F561C|uc021vee.2,p.F480C	retained_intron, protein_coding	uc021vee.2	nonsynonymous SNV	exon16	c.T1439G	p.F480C	RKPHERKQNLERFKKGDVRFLICTD	RKPHERKQNLERCKKGDVRFLICTD	9.0	5.0	unscreened	-	4037_2:15767265-15767265 T>G_RKPHERKQNLERCKKGDVRFLICTD
14:93760597-93760597 A>T	1.0	4037	LUNG	-	-	-	-	BTBD7	ENST00000555525,p.S257T|uc001ybo.3,p.S257T|uc001ybr.3,p.S257T|NM_001002860,p.S257T|ENST00000334746,p.S257T|ENST00000298896,p.S257T|uc010two.2,p.S172T|NM_018167,p.S257T|uc001ybq.4,p.S172T	retained_intron, protein_coding, nonsense_mediated_decay	uc010two.2	nonsynonymous SNV	exon1	c.T514A	p.S172T	CYYDVVLSFSSDSELVEAFGGNQNC	CYYDVVLSFSSDTELVEAFGGNQNC	8.0	2.0	unscreened	-	4037_14:93760597-93760597 A>T_CYYDVVLSFSSDTELVEAFGGNQNC
20:5550818-5550818 A>G	0.0	4037	LUNG	-	-	-	-	GPCPD1	NM_019593,p.L375P|uc002wmd.4,p.L194P|ENST00000379019,p.L375P|uc002wme.4,p.L375P	protein_coding, processed_transcript	uc002wme.4	nonsynonymous SNV	exon12	c.T1124C	p.L375P	LSKDFVPVVYHDLTCCLTMKKKFDA	LSKDFVPVVYHDPTCCLTMKKKFDA	7.0	2.0	unscreened	-	4037_20:5550818-5550818 A>G_LSKDFVPVVYHDPTCCLTMKKKFDA
21:43161567-43161567 T>C	1.0	4037	LUNG	-	-	-	-	RIPK4	ENST00000332512,p.S596G|ENST00000352483,p.S644G|uc002yzn.1,p.S596G|ENST00000542057,p.S533G|NM_020639,p.S596G|ENST00000544709,p.S533G	protein_coding	uc002yzn.1	nonsynonymous SNV	exon8	c.A1786G	p.S596G	PIVKLLAKQPGVSVNAQTLDGRTPL	PIVKLLAKQPGVGVNAQTLDGRTPL	7.0	7.0	unscreened	-	4037_21:43161567-43161567 T>C_PIVKLLAKQPGVGVNAQTLDGRTPL
19:14043627-14043627 T>C	1.0	4037	LUNG	-	-	-	-	PODNL1	ENST00000254320,p.E395G|NM_001146255,p.E386G|ENST00000538517,p.E386G|NM_001146254,p.E475G|ENST00000538371,p.E475G|uc010xnj.2,p.E475G|uc002mxr.3,p.E477G|ENST00000339560,p.E477G|uc002mxs.3,p.E386G|NM_024825,p.E477G|uc010xni.2,p.E395G	protein_coding, processed_transcript	uc010xnj.2	nonsynonymous SNV	exon8	c.A1424G	p.E475G	LRVGDIGPGTWHELQALQVRHRLVS	LRVGDIGPGTWHGLQALQVRHRLVS	5.0	6.0	unscreened	-	4037_19:14043627-14043627 T>C_LRVGDIGPGTWHGLQALQVRHRLVS
13:42461476-42461476 C>T	1.0	4037	LUNG	-	-	-	-	VWA8	uc001uyk.3,p.D225N|NM_001009814,p.D225N|uc001uyj.3,p.D225N|NM_015058,p.D225N|ENST00000281496,p.D225N|ENST00000379310,p.D225N	protein_coding, processed_transcript	uc001uyk.3	nonsynonymous SNV	exon6	c.G673A	p.D225N	DKLLRDHTKKELDSWKIVRVSENFR	DKLLRDHTKKELNSWKIVRVSENFR	7.0	8.0	unscreened	-	4037_13:42461476-42461476 C>T_DKLLRDHTKKELNSWKIVRVSENFR
11:62402449-62402449 T>C	1.0	4037	LUNG	-	-	-	-	GANAB	ENST00000534779,p.E21G|ENST00000525994,p.E21G|NM_001278193,p.E21G|uc010rma.3,p.E21G|uc010rmb.3,p.E21G|NM_001278192,p.E21G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rmb.3	nonsynonymous SNV	exon2	c.A62G	p.E21G	ARRRRLSVSGRDENSVELTMAEGPY	ARRRRLSVSGRDGNSVELTMAEGPY	10.0	4.0	unscreened	-	4037_11:62402449-62402449 T>C_ARRRRLSVSGRDGNSVELTMAEGPY
11:62402449-62402449 T>C	1.0	4037	LUNG	-	-	-	-	GANAB	ENST00000356638,p.E135G|uc001nua.4,p.E135G|NM_198335,p.E135G|uc001nuc.4,p.E38G|NM_001278194,p.E38G|uc001nub.4,p.E135G|NM_198334,p.E135G|ENST00000540933,p.E38G|ENST00000346178,p.E135G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001nuc.4	nonsynonymous SNV	exon4	c.A113G	p.E38G	PPIARLSVSGRDENSVELTMAEGPY	PPIARLSVSGRDGNSVELTMAEGPY	10.0	4.0	unscreened	-	4037_11:62402449-62402449 T>C_PPIARLSVSGRDGNSVELTMAEGPY
5:140856326-140856326 A>C	0.0	4037	LUNG	-	-	-	-	PCDHGC3	uc003lkv.2,p.T215P|NM_002588,p.T215P|NM_032402,p.T215P|ENST00000308177,p.T215P|uc003lku.1,p.T215P	protein_coding	uc003lkv.2	nonsynonymous SNV	exon1	c.A643C	p.T215P	DREREPSLQLVLTALDGGTPALSAS	DREREPSLQLVLPALDGGTPALSAS	5.0	7.0	unscreened	-	4037_5:140856326-140856326 A>C_DREREPSLQLVLPALDGGTPALSAS
11:68475861-68475861 T>G	0.0	4037	LUNG	-	-	-	-	MTL5	NM_004923,p.E481A|ENST00000255087,p.E481A|uc001ooc.3,p.E481A	retained_intron, protein_coding, processed_transcript	uc001ooc.3	nonsynonymous SNV	exon10	c.A1442C	p.E481A	EAEKEHCSKCLAEQMILEEFGRCLS	EAEKEHCSKCLAAQMILEEFGRCLS	8.0	6.0	unscreened	-	4037_11:68475861-68475861 T>G_EAEKEHCSKCLAAQMILEEFGRCLS
19:15483975-15483975 A>T	1.0	4037	LUNG	-	-	-	-	AKAP8	ENST00000599883,p.L90M	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000599883	nonsynonymous SNV	exon4	c.T268A	p.L90M	VNAETQPGSGAPLMASCGAGARAAS	VNAETQPGSGAPMMASCGAGARAAS	7.0	8.0	unscreened	-	4037_19:15483975-15483975 A>T_VNAETQPGSGAPMMASCGAGARAAS
2:109098885-109098885 T>G	1.0	4037	LUNG	-	-	-	-	GCC2	NM_181453,p.L1108R|ENST00000393321,p.L88R|uc002tec.3,p.L1108R|ENST00000309863,p.L1108R|uc002ted.3,p.L1007R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ted.3	nonsynonymous SNV	exon10	c.T3020G	p.L1007R	KAMVDKELEAEKLQKEQKIKEHATT	KAMVDKELEAEKRQKEQKIKEHATT	9.0	9.0	unscreened	-	4037_2:109098885-109098885 T>G_KAMVDKELEAEKRQKEQKIKEHATT
14:104492027-104492027 T>G	0.0	4037	LUNG	-	-	-	-	TDRD9	uc001yom.4,p.L949V|ENST00000409874,p.L949V|NM_153046,p.L949V|uc001yon.4,p.L687V|ENST00000339063,p.L949V	retained_intron, protein_coding, processed_transcript	uc001yon.4	nonsynonymous SNV	exon21	c.T2059G	p.L687V	TLVPLPTHPHPDLVCLAPFADFDKQ	TLVPLPTHPHPDVVCLAPFADFDKQ	1.0	3.0	unscreened	-	4037_14:104492027-104492027 T>G_TLVPLPTHPHPDVVCLAPFADFDKQ
16:74525021-74525021 T>G	1.0	4037	LUNG	-	-	-	-	GLG1	ENST00000205061,p.S443R|ENST00000562090,p.S443R|NM_012201,p.S443R|NM_001145666,p.S432R|uc002fcy.4,p.S443R|NM_001145667,p.S443R|uc002fcw.4,p.S432R|ENST00000447066,p.S432R|ENST00000422840,p.S443R|uc002fcx.3,p.S443R	retained_intron, protein_coding, nonsense_mediated_decay	uc002fcy.4	nonsynonymous SNV	exon8	c.A1327C	p.S443R	MEDFSLSPEIILSCRGEIEHHCSGL	MEDFSLSPEIILRCRGEIEHHCSGL	8.0	4.0	unscreened	-	4037_16:74525021-74525021 T>G_MEDFSLSPEIILRCRGEIEHHCSGL
8:101725003-101725003 C>A	0.0	4037	LUNG	-	-	-	2	PABPC1	NM_002568,p.M251I|uc003yjs.1,p.M251I|uc011lhd.1,p.M206I|ENST00000519004,p.M206I|ENST00000522387,p.M219I|uc003yjt.1,p.M248I|ENST00000318607,p.M251I|uc011lhc.1,p.M219I	retained_intron, protein_coding, nonsense_mediated_decay	uc011lhd.1	nonsynonymous SNV	exon7	c.G618T	p.M206I	ERHEDAQKAVDEMNGKELNGKQIYV	ERHEDAQKAVDEINGKELNGKQIYV	10.0	8.0	unscreened	-	4037_8:101725003-101725003 C>A_ERHEDAQKAVDEINGKELNGKQIYV
9:26905823-26905823 A>C	1.0	4037	LUNG	-	-	-	-	PLAA	uc003zqd.3,p.S692A|ENST00000397292,p.S692A|NM_001031689,p.S692A	retained_intron, protein_coding, processed_transcript	uc003zqd.3	nonsynonymous SNV	exon14	c.T2074G	p.S692A	RESLMSHAIELKSGSNKNIHIALAT	RESLMSHAIELKAGSNKNIHIALAT	9.0	6.0	unscreened	-	4037_9:26905823-26905823 A>C_RESLMSHAIELKAGSNKNIHIALAT
8:67341860-67341860 A>T	0.0	4037	LUNG	-	-	-	-	RRS1	NM_015169,p.D165V|ENST00000320270,p.D165V|uc003xwa.3,p.D165V	protein_coding	uc003xwa.3	nonsynonymous SNV	exon1	c.A494T	p.D165V	TKEWLIEVPGNADPLEDQFAKRIQA	TKEWLIEVPGNAVPLEDQFAKRIQA	9.0	3.0	unscreened	-	4037_8:67341860-67341860 A>T_TKEWLIEVPGNAVPLEDQFAKRIQA
11:3846591-3846591 T>G	1.0	4037	LUNG	-	-	-	-	PGAP2	uc010qxy.3,p.V276G|NM_001256235,p.V241G|ENST00000300730,p.V276G|ENST00000479072,p.V63G|uc001lyt.4,p.V67G|uc001lys.4,p.V284G|NM_001256240,p.V223G|uc010qxw.3,p.V341G|ENST00000396986,p.V280G|ENST00000278243,p.V284G|ENST00000396991,p.V284G|NM_001283038,p.V280G|ENST00000469307,p.V219G|NM_014489,p.V284G|NM_001256239,p.V219G|uc021qcm.2,p.V223G|uc031pyo.1,p.V219G|uc001lyl.4,p.V241G|ENST00000496834,p.V67G|NM_001256236,p.V341G|ENST00000463452,p.V223G|NM_001145438,p.V276G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pyo.1	nonsynonymous SNV	exon6	c.T656G	p.V219G	GVYTIFAILEYTVVLTNMAFHMTAW	GVYTIFAILEYTGVLTNMAFHMTAW	8.0	5.0	unscreened	-	4037_11:3846591-3846591 T>G_GVYTIFAILEYTGVLTNMAFHMTAW
4:106196378-106196378 A>G	1.0	4037	LUNG	-	-	-	1	TET2	ENST00000380013,p.R1571G|uc003hxk.3,p.R1571G|ENST00000540549,p.R1571G|uc011cez.2,p.R1592G|NM_001127208,p.R1571G|ENST00000513237,p.R1592G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cez.2	nonsynonymous SNV	exon11	c.A4774G	p.R1592G	SYSASGSTNPYMRRPNPVSPYPNSS	SYSASGSTNPYMGRPNPVSPYPNSS	6.0	8.0	unscreened	-	4037_4:106196378-106196378 A>G_SYSASGSTNPYMGRPNPVSPYPNSS
3:134851616-134851616 A>C	0.0	4037	LUNG	-	-	-	-	EPHB1	uc011bly.2,p.S230R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bly.2	nonsynonymous SNV	exon5	c.A688C	p.S230R	LSPSSMRRPSFWSGTLQGRQVGGMM	LSPSSMRRPSFWRGTLQGRQVGGMM	3.0	8.0	unscreened	-	4037_3:134851616-134851616 A>C_LSPSSMRRPSFWRGTLQGRQVGGMM
22:21158628-21158628 A>G	0.0	4037	LUNG	-	-	-	-	PI4KA	ENST00000572273,p.V416A|uc010gsq.2,p.V502A|NM_058004,p.V474A|uc002zsz.5,p.V474A|ENST00000255882,p.V474A	retained_intron, protein_coding, processed_transcript	uc010gsq.2	nonsynonymous SNV	exon12	c.T1505C	p.V502A	LSEKLQSKTSSKVIIAHLPLLICCL	LSEKLQSKTSSKAIIAHLPLLICCL	7.0	2.0	unscreened	-	4037_22:21158628-21158628 A>G_LSEKLQSKTSSKAIIAHLPLLICCL
21:47684049-47684049 T>C	1.0	4037	LUNG	-	-	-	-	MCM3AP	NM_003906,p.Y1106C|ENST00000397708,p.Y1106C|ENST00000291688,p.Y1106C|uc002zir.1,p.Y1106C|uc002ziq.1,p.Y33C	retained_intron, protein_coding, processed_transcript	uc002zir.1	nonsynonymous SNV	exon13	c.A3317G	p.Y1106C	RDCEEVGSAGAAYAAAALGVSNAAM	RDCEEVGSAGAACAAAALGVSNAAM	8.0	5.0	unscreened	-	4037_21:47684049-47684049 T>C_RDCEEVGSAGAACAAAALGVSNAAM
12:77427690-77427691 CT>-	0.0	4037	LUNG	-	-	-	-	E2F7	ENST00000550669,p.R419fs|NM_203394,p.R419fs|uc001sym.4,p.R419fs|ENST00000416496,p.R419fs|ENST00000322886,p.R419fs	retained_intron, protein_coding, nonsense_mediated_decay	uc001sym.4	frameshift deletion	exon8	c.1255_1256del	p.R419fs	RHGSFNTVQASERIQRKVNSEPSSP	RHGSFNTVQASEDPEESELRTEQPVQRRTRIRWLLFRNWKPGSCL	4.0	4.0	unscreened	-	4037_12:77427690-77427691 CT>-_RHGSFNTVQASEDPEESELRTEQPVQRRTRIRWLLFRNWKPGSCL
9:36108049-36108049 A>C	1.0	4037	LUNG	-	-	-	-	RECK	uc003zyw.3,p.E423D|ENST00000377966,p.E551D|uc003zyv.3,p.E551D|NM_021111,p.E551D	protein_coding, processed_transcript	uc003zyw.3	nonsynonymous SNV	exon16	c.A1269C	p.E423D	QGTLIQVPSSAGEVGCYKICSCGQS	QGTLIQVPSSAGDVGCYKICSCGQS	5.0	4.0	unscreened	-	4037_9:36108049-36108049 A>C_QGTLIQVPSSAGDVGCYKICSCGQS
16:48174737-48174737 T>G	0.0	4037	LUNG	-	-	-	-	ABCC12	ENST00000532494,p.E173A|ENST00000529084,p.E173A|ENST00000416054,p.E173A|NM_033226,p.E173A|ENST00000529504,p.E173A|ENST00000533639,p.E173A|ENST00000534418,p.E173A|ENST00000448542,p.E173A|uc002efe.1,p.E173A|ENST00000497206,p.E173A|uc002efc.1,p.E173A|ENST00000311303,p.E173A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002efe.1	nonsynonymous SNV	exon5	c.A518C	p.E173A	VGIGLCIALFATEFTKVFFWALAWA	VGIGLCIALFATAFTKVFFWALAWA	1.0	3.0	unscreened	-	4037_16:48174737-48174737 T>G_VGIGLCIALFATAFTKVFFWALAWA
12:6500068-6500069 AG>-	1.0	4037	LUNG	-	-	-	-	LTBR	ENST00000539925,p.R406fs|NM_002342,p.R425fs|ENST00000541102,p.R282fs|uc001qnz.2,p.R420fs|ENST00000228918,p.R425fs|uc001qny.2,p.R425fs|uc010sfc.2,p.R406fs|NM_001270987,p.R406fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sfc.2	frameshift deletion	exon10	c.1216_1217del	p.R406fs	AETEHCGATPSNRGPRNQFITHD	AETEHCGATPSNGPKEPIYHP	9.0	10.0	unscreened	-	4037_12:6500068-6500069 AG>-_AETEHCGATPSNGPKEPIYHP
1:62288642-62288642 T>C	0.0	4037	LUNG	-	-	-	-	INADL	ENST00000316485,p.L570P|NM_176877,p.L570P|uc001dab.3,p.L570P|uc001daa.2,p.L570P|ENST00000371158,p.L570P|uc001dad.3,p.L267P|uc009waf.1,p.L570P|ENST00000484937,p.L29P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009waf.1	nonsynonymous SNV	exon15	c.T1709C	p.L570P	KYSKLLPIHTLRLGVEVDSFDGHHY	KYSKLLPIHTLRPGVEVDSFDGHHY	6.0	4.0	unscreened	-	4037_1:62288642-62288642 T>C_KYSKLLPIHTLRPGVEVDSFDGHHY
11:10875517-10875517 T>A	1.0	4037	LUNG	-	-	-	-	ZBED5	NM_001143667,p.S326C|ENST00000432999,p.S326C|uc009ygh.3,p.S326C|NM_021211,p.S326C|ENST00000413761,p.S326C|uc021qdu.1,p.S326C|uc001mji.4,p.S326C|uc009ygg.3,p.S326C	protein_coding, processed_transcript	uc021qdu.1	nonsynonymous SNV	exon1	c.A976T	p.S326C	NATGEEIFNCINSFMQKHEIEWEKC	NATGEEIFNCINCFMQKHEIEWEKC	8.0	9.0	-	-	4037_11:10875517-10875517 T>A_NATGEEIFNCINCFMQKHEIEWEKC
12:120586135-120586135 A>C	0.0	4037	LUNG	-	-	-	-	GCN1L1	uc001txo.3,p.L1521R|ENST00000300648,p.L1521R|NM_006836,p.L1521R	retained_intron, protein_coding	uc001txo.3	nonsynonymous SNV	exon37	c.T4562G	p.L1521R	ESWRTKAGSVELLGAMAYCAPKQLS	ESWRTKAGSVELRGAMAYCAPKQLS	7.0	6.0	unscreened	-	4037_12:120586135-120586135 A>C_ESWRTKAGSVELRGAMAYCAPKQLS
19:14043627-14043627 T>C	1.0	4037	LUNG	-	-	-	-	PODNL1	ENST00000587954,p.E44G	protein_coding, processed_transcript	ENST00000587954	nonsynonymous SNV	exon1	c.A131G	p.E44G	LRVGDIGPGTWHELQALQMLDLSHN	LRVGDIGPGTWHGLQALQMLDLSHN	5.0	6.0	unscreened	-	4037_19:14043627-14043627 T>C_LRVGDIGPGTWHGLQALQMLDLSHN
4:170628055-170628056 TT>-	1.0	4037	LUNG	-	-	-	-	CLCN3	NM_001829,p.I596fs|NM_173872,p.I596fs|uc003ish.3,p.I596fs|uc003isj.2,p.I569fs|NM_001243372,p.I569fs|ENST00000504131,p.I579fs|uc003isi.3,p.I596fs|ENST00000360642,p.I569fs|NM_001243374,p.I569fs|ENST00000513761,p.I596fs|ENST00000347613,p.I596fs|ENST00000507875,p.I569fs|uc011cka.2,p.I569fs|uc011cjz.2,p.I579fs	protein_coding, processed_transcript	uc011cka.2	frameshift deletion	exon10	c.1706_1707del	p.I569fs	GGVTRMTVSLVVIVFELTGGLEYIV	GGVTRMTVSLVVSF	7.0	3.0	unscreened	-	4037_4:170628055-170628056 TT>-_GGVTRMTVSLVVSF
16:90001409-90001409 A>G	0.0	4037	LUNG	-	-	-	-	TUBB3	ENST00000304984,p.N112D|uc002fph.2,p.N184D|ENST00000315491,p.N184D|uc002fpf.2,p.N531D|ENST00000554444,p.N112D|ENST00000556922,p.N531D|ENST00000555810,p.N112D|uc002fpk.1,p.N38D|NM_006086,p.N184D|NM_001197181,p.N112D|uc010ciz.1,p.N112D|uc002fpj.1,p.N112D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ciz.1	nonsynonymous SNV	exon4	c.A334G	p.N112D	SPKVSDTVVEPYNATLSIHQLVENT	SPKVSDTVVEPYDATLSIHQLVENT	5.0	10.0	unscreened	-	4037_16:90001409-90001409 A>G_SPKVSDTVVEPYDATLSIHQLVENT
1:220826691-220826691 G>A	1.0	4037	LUNG	-	-	-	-	MARK1	uc001hmn.4,p.R662H|ENST00000366917,p.R662H|NM_001286124,p.R663H|NM_018650,p.R662H|uc009xdw.3,p.R663H	protein_coding, processed_transcript	uc009xdw.3	nonsynonymous SNV	exon16	c.G1988A	p.R663H	TGIISKITSKFVRRDPSEGEASGRT	TGIISKITSKFVHRDPSEGEASGRT	6.0	10.0	-	-	4037_1:220826691-220826691 G>A_TGIISKITSKFVHRDPSEGEASGRT
16:88801357-88801357 T>C	1.0	4037	LUNG	-	-	-	-	PIEZO1	uc010vpb.2,p.S592G|ENST00000301015,p.S592G|uc010cib.3,p.S129G|NM_001142864,p.S592G	retained_intron, protein_coding, nonsense_mediated_decay	uc010vpb.2	nonsynonymous SNV	exon14	c.A1774G	p.S592G	WIYVCAGMFIVVSFAGRLVVYKIVY	WIYVCAGMFIVVGFAGRLVVYKIVY	10.0	4.0	unscreened	-	4037_16:88801357-88801357 T>C_WIYVCAGMFIVVGFAGRLVVYKIVY
15:85188813-85188813 G>C	1.0	4037	LUNG	-	-	-	-	WDR73	NM_032856,p.L258V|ENST00000434634,p.L258V|uc002bkw.2,p.L258V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bkw.2	nonsynonymous SNV	exon7	c.C772G	p.L258V	SDGRLCLLDPRDLCHPVSSVQCPVS	SDGRLCLLDPRDVCHPVSSVQCPVS	7.0	10.0	unscreened	-	4037_15:85188813-85188813 G>C_SDGRLCLLDPRDVCHPVSSVQCPVS
1:47761464-47761464 T>G	0.0	4037	LUNG	-	-	-	1	STIL	ENST00000396221,p.K253T|uc010omo.1,p.K253T|NM_001282938,p.K206T|ENST00000337817,p.K253T|uc001crd.1,p.K253T|uc001cre.1,p.K253T|NM_001282936,p.K253T|NM_001048166,p.K253T|uc001crc.1,p.K253T|NM_001282939,p.K206T|NM_003035,p.K253T|uc001crg.1,p.K206T|NM_001282937,p.K253T|ENST00000371877,p.K253T|ENST00000360380,p.K253T|ENST00000243182,p.K253T|uc010omn.1,p.K206T|ENST00000447475,p.K206T	retained_intron, protein_coding	uc010omo.1	nonsynonymous SNV	exon7	c.A758C	p.K253T	TRKLLLLLESDPKVYSLPLVGIWLS	TRKLLLLLESDPTVYSLPLVGIWLS	7.0	3.0	unscreened	-	4037_1:47761464-47761464 T>G_TRKLLLLLESDPTVYSLPLVGIWLS
7:56148986-56148986 C>T	1.0	4037	LUNG	-	-	ID=COSM1090959;OCCURENCE=1(endometrium)	-	PHKG1	uc011kdd.2,p.A255T|ENST00000537360,p.A255T|ENST00000452681,p.A341T|uc003try.2,p.A203T|ENST00000297373,p.A309T|NM_006213,p.A309T|NM_001258460,p.A300T|uc003trz.2,p.A309T|uc011kdb.2,p.A341T|NM_001258459,p.A341T|uc011kdc.2,p.A300T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kdd.2	nonsynonymous SNV	exon9	c.G763A	p.A255T	RHFSPRGKFKVIALTVLASVRIYYQ	RHFSPRGKFKVITLTVLASVRIYYQ	4.0	10.0	unscreened	-	4037_7:56148986-56148986 C>T_RHFSPRGKFKVITLTVLASVRIYYQ
22:22328773-22328773 T>G	0.0	4037	LUNG	-	-	-	-	TOP3B	ENST00000398793,p.K53T|ENST00000357179,p.K53T|NM_001282113,p.K53T|ENST00000430142,p.K53T|NM_003935,p.K53T|uc002zvs.3,p.K53T|uc010gtl.3,p.K53T|ENST00000437929,p.K53T|NM_001282112,p.K53T|ENST00000424393,p.K53T|uc002zvt.4,p.K53T|ENST00000444502,p.K53T|ENST00000457179,p.K53T	retained_intron, protein_coding, nonsense_mediated_decay	uc010gtl.3	nonsynonymous SNV	exon3	c.A158C	p.K53T	YTGTFAGQPVRFKMTSVCGHVMTLD	YTGTFAGQPVRFTMTSVCGHVMTLD	6.0	5.0	unscreened	-	4037_22:22328773-22328773 T>G_YTGTFAGQPVRFTMTSVCGHVMTLD
11:134182331-134182331 A>G	1.0	4037	LUNG	-	-	-	-	GLB1L3	uc009zdf.3,p.K459R|NM_001080407,p.K459R|ENST00000431683,p.K459R	retained_intron, protein_coding, nonsense_mediated_decay	uc009zdf.3	nonsynonymous SNV	exon14	c.A1376G	p.K459R	GSGQSYGLVLYEKSICSGGRLRAHA	GSGQSYGLVLYERSICSGGRLRAHA	5.0	1.0	unscreened	-	4037_11:134182331-134182331 A>G_GSGQSYGLVLYERSICSGGRLRAHA
14:24765718-24765718 A>T	1.0	4037	LUNG	-	-	-	-	DHRS1	NM_001136050,p.L124H|ENST00000288111,p.L124H|uc001wok.3,p.L124H|ENST00000396813,p.L124H|uc001woj.2,p.L124H|NM_138452,p.L124H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wok.3	nonsynonymous SNV	exon4	c.T371A	p.L124H	PASMWDDINNVGLRGHYFCSVYGAR	PASMWDDINNVGHRGHYFCSVYGAR	6.0	9.0	unscreened	-	4037_14:24765718-24765718 A>T_PASMWDDINNVGHRGHYFCSVYGAR
16:69395378-69395378 T>C	1.0	4037	LUNG	-	-	-	-	TERF2	NM_005652,p.K452R|ENST00000603068,p.K410R|ENST00000254942,p.K452R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	NM_005652	nonsynonymous SNV	exon8	c.A1355G	p.K452R	LPGEKNPKVPKGKWNSSNGVEEKET	LPGEKNPKVPKGRWNSSNGVEEKET	8.0	3.0	unscreened	-	4037_16:69395378-69395378 T>C_LPGEKNPKVPKGRWNSSNGVEEKET
10:20357132-20357132 G>T	0.0	4037	LUNG	-	-	-	-	PLXDC2	ENST00000377252,p.G169C|NM_032812,p.G169C|uc001iqg.1,p.G169C	protein_coding	uc001iqg.1	nonsynonymous SNV	exon4	c.G505T	p.G169C	ARVNLSFDFPFYGHFLREITVATGG	ARVNLSFDFPFYCHFLREITVATGG	5.0	1.0	unscreened	-	4037_10:20357132-20357132 G>T_ARVNLSFDFPFYCHFLREITVATGG
10:20357132-20357132 G>T	0.0	4037	LUNG	-	-	-	-	PLXDC2	NM_001282736,p.G120C|ENST00000377242,p.G120C|uc001iqh.1,p.G120C	protein_coding	uc001iqh.1	nonsynonymous SNV	exon3	c.G358T	p.G120C	ERVNLSFDFPFYGHFLREITVATGG	ERVNLSFDFPFYCHFLREITVATGG	5.0	1.0	unscreened	-	4037_10:20357132-20357132 G>T_ERVNLSFDFPFYCHFLREITVATGG
3:169496964-169496964 A>C	0.0	4037	LUNG	-	-	-	-	MYNN	uc010hwo.3,p.Q225H|NM_001185118,p.Q225H|uc011bpm.2,p.Q111H|ENST00000392733,p.Q225H|ENST00000349841,p.Q225H|ENST00000544106,p.Q225H|uc003ffu.3,p.Q225H|NM_018657,p.Q225H|NM_001185119,p.Q225H|ENST00000356716,p.Q225H|uc003fft.3,p.Q225H	protein_coding	uc011bpm.2	nonsynonymous SNV	exon3	c.A333C	p.Q111H	LDANKLPTPVVEQVAQINDNSELEL	LDANKLPTPVVEHVAQINDNSELEL	7.0	2.0	unscreened	-	4037_3:169496964-169496964 A>C_LDANKLPTPVVEHVAQINDNSELEL
2:20174304-20174304 C>G	1.0	4037	LUNG	-	-	-	-	WDR35	NM_020779,p.E221Q|uc002rdi.3,p.E221Q|ENST00000414212,p.E221Q|ENST00000281405,p.E221Q|uc002rdj.3,p.E221Q|NM_001006657,p.E221Q|ENST00000345530,p.E221Q	retained_intron, protein_coding, nonsense_mediated_decay	uc002rdj.3	nonsynonymous SNV	exon7	c.G661C	p.E221Q	GIHWYHGTEGYVEPDCPCLAVCFDN	GIHWYHGTEGYVQPDCPCLAVCFDN	5.0	9.0	unscreened	-	4037_2:20174304-20174304 C>G_GIHWYHGTEGYVQPDCPCLAVCFDN
7:105122799-105122799 A>T	1.0	4037	LUNG	-	-	-	-	PUS7	uc003vcz.1,p.L337M|uc010lji.3,p.L343M|ENST00000481939,p.L337M|ENST00000469408,p.L337M|NM_019042,p.L337M|uc003vcy.3,p.L337M|ENST00000356362,p.L337M|uc003vcx.3,p.L337M	retained_intron, protein_coding, nonsense_mediated_decay	uc010lji.3	nonsynonymous SNV	exon8	c.T1027A	p.L343M	LGNFSYQKNPLKLGELQGNHFTVVL	LGNFSYQKNPLKMGELQGNHFTVVL	7.0	7.0	unscreened	-	4037_7:105122799-105122799 A>T_LGNFSYQKNPLKMGELQGNHFTVVL
1:158747175-158747175 T>G	0.0	4037	LUNG	-	-	-	-	OR6N2	NM_001005278,p.N84T|uc010pir.2,p.N84T|ENST00000339258,p.N84T	protein_coding	uc010pir.2	nonsynonymous SNV	exon1	c.A251C	p.N84T	WYTATTIPKMLSNILSEKKTISFAG	WYTATTIPKMLSTILSEKKTISFAG	1.0	2.0	unscreened	-	4037_1:158747175-158747175 T>G_WYTATTIPKMLSTILSEKKTISFAG
9:107298119-107298119 A>T	0.0	4037	LUNG	-	-	-	-	OR13C3	ENST00000374781,p.Y326N|NM_001001961,p.Y326N|uc004bcb.1,p.Y326N	protein_coding	uc004bcb.1	nonsynonymous SNV	exon1	c.T976A	p.Y326N	YGVVTPMLNPILYSLRNKDVKAAVK	YGVVTPMLNPILNSLRNKDVKAAVK	1.0	10.0	unscreened	-	4037_9:107298119-107298119 A>T_YGVVTPMLNPILNSLRNKDVKAAVK
20:20453474-20453474 A>C	1.0	4037	LUNG	-	-	-	-	RALGAPA2	uc010zsg.2,p.F1280V|uc002wry.3,p.F1447V|NM_020343,p.F1832V|uc002wrz.3,p.F1832V|ENST00000202677,p.F1832V|ENST00000417022,p.F262V	protein_coding, processed_transcript	uc010zsg.2	nonsynonymous SNV	exon35	c.T3838G	p.F1280V	RAVKCLIPLYQSFYEERALYLEAII	RAVKCLIPLYQSVYEERALYLEAII	7.0	8.0	unscreened	-	4037_20:20453474-20453474 A>C_RAVKCLIPLYQSVYEERALYLEAII
20:4883133-4883133 T>C	0.0	4037	LUNG	-	-	-	-	SLC23A2	ENST00000424750,p.I93M|ENST00000379333,p.I93M|ENST00000338244,p.I93M|uc002wlg.1,p.I93M|uc010zqr.1,p.I92M|NM_005116,p.I93M|uc002wlh.1,p.I93M|uc002wli.3,p.I92M|NM_203327,p.I93M	protein_coding, processed_transcript	uc010zqr.1	nonsynonymous SNV	exon5	c.A276G	p.I92M	SLDPQRSDMIYTIEDVPPWYLCIFL	SLDPQRSDMIYTMEDVPPWYLCIFL	6.0	5.0	unscreened	-	4037_20:4883133-4883133 T>C_SLDPQRSDMIYTMEDVPPWYLCIFL
1:22216494-22216494 T>C	0.0	4037	LUNG	-	-	-	-	HSPG2	ENST00000412328,p.S108G|uc009vqe.1,p.S84G	protein_coding, processed_transcript, nonsense_mediated_decay	uc009vqe.1	nonsynonymous SNV	exon3	c.A250G	p.S84G	LWPPTSPLPRDSSSDAWAQCPSSQE	LWPPTSPLPRDSGSDAWAQCPSSQE	9.0	4.0	unscreened	-	4037_1:22216494-22216494 T>C_LWPPTSPLPRDSGSDAWAQCPSSQE
5:178140132-178140132 T>A	1.0	4037	LUNG	-	-	-	-	ZNF354A	NM_005649,p.K249N|uc003mjj.3,p.K249N|ENST00000335815,p.K249N	protein_coding, nonsense_mediated_decay	uc003mjj.3	nonsynonymous SNV	exon5	c.A747T	p.K249N	SGEKLFKCKECSKAFSQSSALIQHQ	SGEKLFKCKECSNAFSQSSALIQHQ	7.0	3.0	unscreened	-	4037_5:178140132-178140132 T>A_SGEKLFKCKECSNAFSQSSALIQHQ
21:32582527-32582527 T>A	0.0	4037	LUNG	-	-	-	-	TIAM1	NM_003253,p.E741V|uc002yow.1,p.E741V|uc011adk.1,p.E741V|ENST00000286827,p.E741V	retained_intron, protein_coding, processed_transcript	uc011adk.1	nonsynonymous SNV	exon9	c.A2222T	p.E741V	GIFDDIVPDGKREKEVVLPNVHQHN	GIFDDIVPDGKRVKEVVLPNVHQHN	7.0	5.0	unscreened	-	4037_21:32582527-32582527 T>A_GIFDDIVPDGKRVKEVVLPNVHQHN
10:43883020-43883020 C>T	1.0	4037	LUNG	-	-	-	-	HNRNPF	ENST00000337970,p.A105T|uc001jav.2,p.A105T|ENST00000544000,p.A105T|ENST00000357065,p.A105T|NM_001098204,p.A105T|ENST00000443950,p.A105T|uc001jat.2,p.A105T|uc001jau.2,p.A105T|uc021ppg.1,p.A105T|NM_001098205,p.A105T|NM_001098207,p.A105T|ENST00000356053,p.A105T|uc001jar.2,p.A105T|NM_004966,p.A105T|uc009xmh.1,p.A105T|NM_001098208,p.A105T|NM_001098206,p.A105T|uc001jas.2,p.A105T	protein_coding, processed_transcript	uc021ppg.1	nonsynonymous SNV	exon1	c.G313A	p.A105T	MDWVLKHSGPNSADSANDGFVRLRG	MDWVLKHSGPNSTDSANDGFVRLRG	10.0	10.0	-	-	4037_10:43883020-43883020 C>T_MDWVLKHSGPNSTDSANDGFVRLRG
1:44054545-44054545 G>A	1.0	4037	LUNG	-	-	-	-	PTPRF	ENST00000372414,p.E275K|uc001cjs.3,p.E275K|ENST00000438120,p.E275K|ENST00000372413,p.E275K|ENST00000359947,p.E275K|uc001cjr.3,p.E275K|NM_130440,p.E275K|NM_002840,p.E275K	protein_coding, processed_transcript	uc001cjs.3	nonsynonymous SNV	exon8	c.G823A	p.E275K	VKWMMGAEELTKEDEMPVGRNVLEL	VKWMMGAEELTKKDEMPVGRNVLEL	10.0	9.0	-	-	4037_1:44054545-44054545 G>A_VKWMMGAEELTKKDEMPVGRNVLEL
12:93221694-93221694 T>G	1.0	4037	LUNG	-	-	-	-	EEA1	ENST00000322349,p.E466D|uc001tck.3,p.E466D|NM_003566,p.E466D	protein_coding, processed_transcript, nonsense_mediated_decay	uc001tck.3	nonsynonymous SNV	exon12	c.A1398C	p.E466D	QVADLQLKLSRLEEQLKEKVTNSTE	QVADLQLKLSRLDEQLKEKVTNSTE	5.0	7.0	unscreened	-	4037_12:93221694-93221694 T>G_QVADLQLKLSRLDEQLKEKVTNSTE
13:28750658-28750658 G>A	1.0	4037	LUNG	-	-	-	-	PAN3	uc001urx.3,p.S48N|ENST00000399613,p.S48N|uc001urz.3,p.S194N|ENST00000380958,p.S194N|uc010tdo.1,p.S194N|NM_175854,p.S194N	retained_intron, protein_coding, processed_transcript	uc010tdo.1	nonsynonymous SNV	exon3	c.G581A	p.S194N	LMQRMTNSSSSPSLLNDSAKPYSAH	LMQRMTNSSSSPNLLNDSAKPYSAH	8.0	3.0	unscreened	-	4037_13:28750658-28750658 G>A_LMQRMTNSSSSPNLLNDSAKPYSAH
10:6002371-6002371 T>A	0.0	4037	LUNG	-	-	-	-	IL15RA	ENST00000530685,p.K148M|ENST00000397246,p.K112M|uc021pmp.1,p.K118M|NM_001256765,p.K267M|uc021pmo.1,p.K267M|NM_001243539,p.K145M|uc010qau.2,p.K148M|ENST00000429135,p.K148M|uc001iiy.3,p.K29M|ENST00000525219,p.K145M|NM_172200,p.K148M|NM_002189,p.K181M|ENST00000397255,p.K181M|ENST00000397251,p.K116M|uc001iiv.3,p.K181M|ENST00000379977,p.K181M|ENST00000397250,p.K83M|uc001iiw.3,p.K145M|ENST00000379971,p.K83M|ENST00000397248,p.K145M|ENST00000528354,p.K148M	protein_coding, processed_transcript	uc021pmp.1	nonsynonymous SNV	exon2	c.A353T	p.K118M	ESSHGTPSQTTAKNWELTASASHQP	ESSHGTPSQTTAMNWELTASASHQP	5.0	7.0	unscreened	-	4037_10:6002371-6002371 T>A_ESSHGTPSQTTAMNWELTASASHQP
1:35484895-35484895 T>G	0.0	4037	LUNG	-	-	-	-	ZMYM6	uc001byj.2,p.S163R|uc001byi.2,p.S163R|uc001byk.2,p.S163R|ENST00000317538,p.S163R|ENST00000373333,p.S163R	protein_coding, processed_transcript, nonsense_mediated_decay	uc001byk.2	nonsynonymous SNV	exon4	c.A487C	p.S163R	FYFTFFLVCILFSSNILLIL	FYFTFFLVCILFRSNILLIL	7.0	5.0	unscreened	-	4037_1:35484895-35484895 T>G_FYFTFFLVCILFRSNILLIL
6:170169703-170169703 A>C	0.0	4037	LUNG	-	-	-	-	ERMARD	ENST00000366772,p.E376A|NM_001278532,p.E250A|NM_001278533,p.E376A|uc003qxh.1,p.E376A|NM_001278531,p.E376A|ENST00000366773,p.E376A|ENST00000392095,p.E250A|uc011ehb.1,p.E250A|NM_018341,p.E376A|uc003qxi.1,p.E24A|ENST00000588451,p.E240A|ENST00000418781,p.E376A|uc010kky.1,p.E250A|uc003qxg.1,p.E376A	retained_intron, protein_coding, nonsense_mediated_decay	uc011ehb.1	nonsynonymous SNV	exon11	c.A749C	p.E250A	EGPRIRDHLSHGEINLHEFSKETTN	EGPRIRDHLSHGAINLHEFSKETTN	6.0	4.0	unscreened	-	4037_6:170169703-170169703 A>C_EGPRIRDHLSHGAINLHEFSKETTN
5:110456820-110456820 T>G	1.0	4037	LUNG	-	-	-	-	WDR36	ENST00000513710,p.L766R|uc003kpd.3,p.L766R|ENST00000506538,p.L766R|NM_139281,p.L766R	retained_intron, protein_coding	uc003kpd.3	nonsynonymous SNV	exon19	c.T2297G	p.L766R	LSLLPESRWKNLLNLDVIKKKNKPK	LSLLPESRWKNLRNLDVIKKKNKPK	5.0	6.0	unscreened	-	4037_5:110456820-110456820 T>G_LSLLPESRWKNLRNLDVIKKKNKPK
9:139943185-139943185 A>G	1.0	4037	LUNG	-	-	-	-	ENTPD2	uc004ckw.2,p.F471S|ENST00000312665,p.F448S|ENST00000355097,p.F471S|NM_203468,p.F471S|NM_001246,p.F448S|uc004ckx.2,p.F448S|uc004ckv.2,p.F160S|uc022bqb.1,p.F113S	protein_coding, processed_transcript	uc022bqb.1	nonsynonymous SNV	exon4	c.T338C	p.F113S	TDFSSWVVLLLLFASALLAALVLLL	TDFSSWVVLLLLSASALLAALVLLL	5.0	9.0	-	-	4037_9:139943185-139943185 A>G_TDFSSWVVLLLLSASALLAALVLLL
9:20414287-20414298 CTGCTGCTGCTA>-	1.0	4037	LUNG	-	-	-	1	MLLT3	ENST00000429426,p.179_183del|uc003zoe.2,p.182_186del|NM_001286691,p.179_183del|uc011lnf.1,p.179_183del|uc011lne.1,p.150_154del|NM_004529,p.182_186del|ENST00000380338,p.182_186del	protein_coding, processed_transcript	uc011lnf.1	nonframeshift deletion	exon5	c.537_548del	p.179_183del	SSSSSSSSSSSSSSSSSSSSSTSFS	SSSSSSSSSSSSSSSSSTSFSKPHK	5.0	8.0	unscreened	-	4037_9:20414287-20414298 CTGCTGCTGCTA>-_SSSSSSSSSSSSSSSSSTSFSKPHK
15:51250775-51250776 TG>-	0.0	4037	LUNG	-	-	-	-	AP4E1	NM_007347,p.S545fs|ENST00000560508,p.S470fs|ENST00000261842,p.S545fs|NM_001252127,p.S470fs|uc001zyx.2,p.S545fs|uc021skz.1,p.S470fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc021skz.1	frameshift deletion	exon14	c.1410_1411del	p.S470fs	VIAKLYKLLMNDSVSSETKAWLIAA	VIAKLYKLLMNDSVFRNKSLVNCCCDQIDISGALF	5.0	3.0	unscreened	-	4037_15:51250775-51250776 TG>-_VIAKLYKLLMNDSVFRNKSLVNCCCDQIDISGALF
7:37989895-37989895 T>G	0.0	4037	LUNG	-	-	-	-	EPDR1	ENST00000559325,p.F311C|ENST00000476620,p.F89C|NM_001242948,p.F130C|ENST00000199448,p.F191C|uc003tfp.4,p.F191C|NM_017549,p.F191C|ENST00000425345,p.F130C|uc010kxh.3,p.F130C	protein_coding	uc010kxh.3	nonsynonymous SNV	exon3	c.T389G	p.F130C	FTINYSVILSTRFFDIQLGIKDPSV	FTINYSVILSTRCFDIQLGIKDPSV	6.0	1.0	unscreened	-	4037_7:37989895-37989895 T>G_FTINYSVILSTRCFDIQLGIKDPSV
17:4863405-4863405 T>A	1.0	4037	LUNG	-	-	-	-	SPAG7	ENST00000573366,p.E59V|uc002gaf.3,p.E110V|ENST00000575142,p.E99V|ENST00000206020,p.E110V|uc002gae.3,p.E110V|NM_004890,p.E110V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gaf.3	nonsynonymous SNV	exon5	c.A329T	p.E110V	DDDCRYVMIFKKEFAPSDEELDSYR	DDDCRYVMIFKKVFAPSDEELDSYR	7.0	7.0	-	-	4037_17:4863405-4863405 T>A_DDDCRYVMIFKKVFAPSDEELDSYR
11:73066919-73066919 A>G	1.0	4037	LUNG	-	-	-	-	ARHGEF17	NM_014786,p.E1195G|ENST00000263674,p.E1195G|uc001otu.3,p.E1195G	retained_intron, protein_coding, processed_transcript	uc001otu.3	nonsynonymous SNV	exon5	c.A3584G	p.E1195G	PAFLKFLEQSMRENKEKQALSDLMI	PAFLKFLEQSMRGNKEKQALSDLMI	8.0	7.0	unscreened	-	4037_11:73066919-73066919 A>G_PAFLKFLEQSMRGNKEKQALSDLMI
1:28075635-28075635 A>C	1.0	4037	LUNG	-	-	-	-	FAM76A	NM_001143912,p.K224T|uc009vtb.3,p.K190T|NM_152660,p.K190T|ENST00000010299,p.K224T|ENST00000373954,p.K190T|ENST00000530324,p.K190T|uc001bor.3,p.K224T|uc001boq.3,p.K190T	protein_coding	uc009vtb.3	nonsynonymous SNV	exon6	c.A569C	p.K190T	SSIQNEIPKKKSKFESITTNGDSFS	SSIQNEIPKKKSTFESITTNGDSFS	6.0	4.0	unscreened	-	4037_1:28075635-28075635 A>C_SSIQNEIPKKKSTFESITTNGDSFS
13:42461458-42461475 GGACAATTTTCCAAGAAT>-	1.0	4037	LUNG	-	-	-	-	VWA8	NM_015058,p.225_231del|uc001uyj.3,p.225_231del|NM_001009814,p.225_231del|ENST00000379310,p.225_231del|ENST00000281496,p.225_231del|uc001uyk.3,p.225_231del	protein_coding, processed_transcript	uc001uyk.3	nonframeshift deletion	exon6	c.674_691del	p.225_231del	DKLLRDHTKKELDSWKIVRVSENFR	DKLLRDHTKKELGVSENFRVIALGL	7.0	7.0	unscreened	-	4037_13:42461458-42461475 GGACAATTTTCCAAGAAT>-_DKLLRDHTKKELGVSENFRVIALGL
13:20763644-20763644 G>A	1.0	4037	LUNG	-	-	-	-	GJB2	ENST00000382848,p.T26I|ENST00000382844,p.T26I|uc021rha.1,p.T26I|NM_004004,p.T26I|uc001umy.3,p.T26I	protein_coding	uc021rha.1	nonsynonymous SNV	exon1	c.C77T	p.T26I	NKHSTSIGKIWLTVLFIFRIMILVV	NKHSTSIGKIWLIVLFIFRIMILVV	5.0	10.0	unscreened	-	4037_13:20763644-20763644 G>A_NKHSTSIGKIWLIVLFIFRIMILVV
6:30888501-30888501 A>G	1.0	4037	LUNG	-	-	-	-	VARS2	uc011dmx.2,p.Q485R|ENST00000321897,p.Q485R|ENST00000542001,p.Q345R|uc011dmy.2,p.Q345R|NM_001167733,p.Q345R|NM_001167734,p.Q515R|uc011dmz.2,p.Q515R|uc011dna.2,p.Q483R|uc003nsc.2,p.Q485R|ENST00000541562,p.Q515R|NM_020442,p.Q485R|ENST00000416670,p.Q485R	retained_intron, protein_coding, processed_transcript	uc011dna.2	nonsynonymous SNV	exon14	c.A1448G	p.Q483R	EYLLKNQWFVRCQEMGARAAKAVES	EYLLKNQWFVRCREMGARAAKAVES	6.0	6.0	unscreened	-	4037_6:30888501-30888501 A>G_EYLLKNQWFVRCREMGARAAKAVES
3:139102223-139102223 T>A	0.0	4037	LUNG	-	-	-	-	COPB2	ENST00000515006,p.S20C|uc003etg.3,p.S20C|uc003etf.4,p.S20C|uc011bmw.1,p.S20C|ENST00000333188,p.S20C|NM_004766,p.S20C	retained_intron, protein_coding, processed_transcript	uc011bmw.1	nonsynonymous SNV	exon2	c.A58T	p.S20C	KRKLTARSDRVKSVDLHPTEPWMLA	KRKLTARSDRVKCVDLHPTEPWMLA	10.0	3.0	unscreened	-	4037_3:139102223-139102223 T>A_KRKLTARSDRVKCVDLHPTEPWMLA
9:134955054-134955054 A>C	1.0	4037	LUNG	-	-	-	-	MED27	uc004cbe.2,p.L60V|uc004cbg.4,p.L60V|uc022box.1,p.L60V|ENST00000372184,p.L60V|uc011mco.2,p.L60V|NM_004269,p.L60V|NM_001253882,p.L60V|ENST00000357028,p.L22V|ENST00000292035,p.L60V|NM_001253881,p.L60V|uc004cbf.2,p.L60V	protein_coding, processed_transcript	uc022box.1	nonsynonymous SNV	exon1	c.T178G	p.L60V	REKAFIAHFQDNLHSVNRDLNELER	REKAFIAHFQDNVHSVNRDLNELER	6.0	7.0	unscreened	-	4037_9:134955054-134955054 A>C_REKAFIAHFQDNVHSVNRDLNELER
14:92482112-92482112 T>G	1.0	4037	LUNG	-	-	-	1	TRIP11	NM_004239,p.S251R|uc010auf.2,p.S16R|uc001xzy.3,p.S251R|ENST00000267622,p.S251R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010auf.2	nonsynonymous SNV	exon1	c.A46C	p.S16R	LQNAHQQKLTEISRRHREELSDYEE	LQNAHQQKLTEIRRRHREELSDYEE	8.0	8.0	unscreened	-	4037_14:92482112-92482112 T>G_LQNAHQQKLTEIRRRHREELSDYEE
10:27822678-27822678 A>G	1.0	4037	LUNG	-	-	ID=COSM1222906;OCCURENCE=1(large_intestine)	-	RAB18	ENST00000375802,p.R47G	protein_coding, processed_transcript	ENST00000375802	nonsynonymous SNV	exon3	c.A139G	p.R47G	PELAATIVYDVTRRDTFVKLDNWLN	PELAATIVYDVTGRDTFVKLDNWLN	10.0	7.0	-	-	4037_10:27822678-27822678 A>G_PELAATIVYDVTGRDTFVKLDNWLN
3:138219250-138219250 A>C	1.0	4037	LUNG	-	-	-	-	CEP70	NM_001288966,p.L510V|ENST00000264982,p.L510V|ENST00000484888,p.L510V|NM_001288964,p.L492V|uc003esl.3,p.L510V|ENST00000542237,p.L490V|ENST00000474781,p.L492V|uc011bml.2,p.L492V|uc011bmk.2,p.L490V|uc011bmm.2,p.L358V|ENST00000489254,p.L358V|uc003esm.3,p.L510V|NM_001288965,p.L490V|NM_001288967,p.L358V|ENST00000481834,p.L510V|NM_024491,p.L510V	protein_coding, processed_transcript	uc011bmm.2	nonsynonymous SNV	exon11	c.T1072G	p.L358V	EMNNAVRNLQELLELDSSSSLCVLV	EMNNAVRNLQELVELDSSSSLCVLV	7.0	9.0	unscreened	-	4037_3:138219250-138219250 A>C_EMNNAVRNLQELVELDSSSSLCVLV
7:128588140-128588140 A>G	0.0	4037	LUNG	-	-	-	-	IRF5	NM_001242452,p.K280R|ENST00000402030,p.K366R|NM_001098627,p.K366R|ENST00000249375,p.K366R|uc003vog.3,p.K382R|uc003voj.4,p.K366R|uc003voh.3,p.K366R|ENST00000477535,p.K280R|NM_001098629,p.K382R|ENST00000473745,p.K366R|uc010llt.3,p.K280R|NM_001098630,p.K366R|uc003voi.3,p.K366R|NM_032643,p.K366R|ENST00000357234,p.K382R	retained_intron, protein_coding, nonsense_mediated_decay	uc010llt.3	nonsynonymous SNV	exon6	c.A839G	p.K280R	HDSCPNPIQREVKTKLFSLEHFLNE	HDSCPNPIQREVRTKLFSLEHFLNE	5.0	5.0	unscreened	-	4037_7:128588140-128588140 A>G_HDSCPNPIQREVRTKLFSLEHFLNE
10:27822678-27822678 A>G	1.0	4037	LUNG	-	-	ID=COSM1222906;OCCURENCE=1(large_intestine)	-	RAB18	NM_021252,p.R92G|NM_001256415,p.R68G|NM_001256411,p.R92G|uc001itw.4,p.R121G|uc001itv.4,p.R92G|uc031ptn.1,p.R68G|uc010qdq.3,p.R92G|ENST00000356940,p.R92G|NM_001256410,p.R121G	protein_coding, processed_transcript	uc031ptn.1	nonsynonymous SNV	exon4	c.A202G	p.R68G	GAQGVILVYDVTRRDTFVKLDNWLN	GAQGVILVYDVTGRDTFVKLDNWLN	10.0	7.0	-	-	4037_10:27822678-27822678 A>G_GAQGVILVYDVTGRDTFVKLDNWLN
3:15115677-15115677 C>T	0.0	4037	LUNG	-	-	-	-	ZFYVE20	uc010hek.1,p.R656H|ENST00000476527,p.R656H|NM_022340,p.R656H|uc003bzm.1,p.R656H|ENST00000253699,p.R656H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hek.1	nonsynonymous SNV	exon13	c.G1967A	p.R656H	PPAAGVSLDPSARILKEYNPFEEED	PPAAGVSLDPSAHILKEYNPFEEED	7.0	4.0	unscreened	-	4037_3:15115677-15115677 C>T_PPAAGVSLDPSAHILKEYNPFEEED
12:53682451-53682451 G>C	1.0	4037	LUNG	-	-	-	-	ESPL1	uc001scj.2,p.R1234P|ENST00000552462,p.R1559P|ENST00000257934,p.R1559P|NM_012291,p.R1559P|uc001sck.2,p.R1559P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sck.2	nonsynonymous SNV	exon20	c.G4676C	p.R1559P	CPDKESDKDLGPRLRLPSAPVATGL	CPDKESDKDLGPPLRLPSAPVATGL	6.0	8.0	-	-	4037_12:53682451-53682451 G>C_CPDKESDKDLGPPLRLPSAPVATGL
21:32582527-32582527 T>A	0.0	4037	LUNG	-	-	-	-	TIAM1	uc011adl.1,p.E716V|ENST00000541036,p.E716V	retained_intron, protein_coding, processed_transcript	uc011adl.1	nonsynonymous SNV	exon8	c.A2147T	p.E716V	KKKQGRPSINQREKEVVLPNVHQHN	KKKQGRPSINQRVKEVVLPNVHQHN	7.0	5.0	unscreened	-	4037_21:32582527-32582527 T>A_KKKQGRPSINQRVKEVVLPNVHQHN
9:140167268-140167268 T>G	1.0	4037	LUNG	-	-	-	-	NELFB	NM_015456,p.L544R|uc004cmm.4,p.L544R|ENST00000343053,p.L544R	protein_coding	uc004cmm.4	nonsynonymous SNV	exon13	c.T1631G	p.L544R	QSGEAVKELYSQLGEKLEQLDHRKP	QSGEAVKELYSQRGEKLEQLDHRKP	7.0	5.0	unscreened	-	4037_9:140167268-140167268 T>G_QSGEAVKELYSQRGEKLEQLDHRKP
2:101186127-101186127 A>C	1.0	4037	LUNG	-	-	-	-	PDCL3	ENST00000264254,p.Q104H|NM_024065,p.Q104H|uc002tao.2,p.Q104H|ENST00000416255,p.Q54H	protein_coding	uc002tao.2	nonsynonymous SNV	exon4	c.A312C	p.Q104H	GEVLEISGKDYVQEVTKAGEGLWVI	GEVLEISGKDYVHEVTKAGEGLWVI	9.0	6.0	unscreened	-	4037_2:101186127-101186127 A>C_GEVLEISGKDYVHEVTKAGEGLWVI
1:235505731-235505731 T>G	0.0	4037	LUNG	-	-	-	-	GGPS1	uc001hwv.3,p.F183V|uc001hww.3,p.F183V|ENST00000497327,p.F183V|ENST00000476121,p.F183V|ENST00000488594,p.F183V|ENST00000391855,p.F129V|uc001hwx.3,p.F129V|NM_001037277,p.F183V|ENST00000282841,p.F183V|uc031psu.1,p.F183V|ENST00000358966,p.F183V|ENST00000471812,p.F183V	protein_coding, processed_transcript	uc031psu.1	nonsynonymous SNV	exon4	c.T547G	p.F183V	EDLKPLLNTLGLFFQIRDDYANLHS	EDLKPLLNTLGLVFQIRDDYANLHS	10.0	6.0	unscreened	-	4037_1:235505731-235505731 T>G_EDLKPLLNTLGLVFQIRDDYANLHS
12:55968388-55968388 T>G	0.0	4037	LUNG	-	-	-	-	OR2AP1	NM_001258285,p.F64V|ENST00000321688,p.F64V|uc031qhr.1,p.F64V	protein_coding	uc031qhr.1	nonsynonymous SNV	exon1	c.T190G	p.F64V	HLQTPMYFFLRNFSFLEISFTNIFI	HLQTPMYFFLRNVSFLEISFTNIFI	1.0	4.0	unscreened	-	4037_12:55968388-55968388 T>G_HLQTPMYFFLRNVSFLEISFTNIFI
1:108307729-108307729 T>G	0.0	4037	LUNG	-	-	-	-	VAV3	uc001dvk.1,p.K297T|uc010ouw.1,p.K297T|ENST00000527011,p.K297T|NM_006113,p.K297T|uc010oux.1,p.K297T|uc001dvl.1,p.K121T|ENST00000370056,p.K297T|ENST00000371846,p.K232T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010oux.1	nonsynonymous SNV	exon9	c.A890C	p.K297T	VESAISSLDYISKTKEDVKLKLEEC	VESAISSLDYISTTKEDVKLKLEEC	8.0	5.0	unscreened	-	4037_1:108307729-108307729 T>G_VESAISSLDYISTTKEDVKLKLEEC
3:113299539-113299539 T>G	0.0	4037	LUNG	-	-	-	-	SIDT1	ENST00000393830,p.S216A|ENST00000264852,p.S216A|uc021xcn.1,p.S216A|uc003eak.3,p.S216A|NM_017699,p.S216A	retained_intron, protein_coding, processed_transcript	uc021xcn.1	nonsynonymous SNV	exon5	c.T646G	p.S216A	VVSEMAYPCSVVSVQNIMCPVYDLD	VVSEMAYPCSVVAVQNIMCPVYDLD	5.0	1.0	unscreened	-	4037_3:113299539-113299539 T>G_VVSEMAYPCSVVAVQNIMCPVYDLD
2:173659821-173659821 A>T	0.0	4037	LUNG	-	-	-	-	RAPGEF4	ENST00000397081,p.E45V|ENST00000409036,p.E45V|uc010fqn.3,p.E28V|ENST00000264111,p.E45V|uc002uhv.4,p.E45V|uc002uhu.2,p.E45V|NM_007023,p.E45V	retained_intron, protein_coding, processed_transcript	uc010fqn.3	nonsynonymous SNV	exon2	c.A83T	p.E28V	IIFTRLKEVKAFEKFHPNLLHQICL	IIFTRLKEVKAFVKFHPNLLHQICL	5.0	4.0	unscreened	-	4037_2:173659821-173659821 A>T_IIFTRLKEVKAFVKFHPNLLHQICL
11:4567133-4567133 T>C	0.0	4037	LUNG	-	-	-	-	OR52M1	NM_001004137,p.L238P|ENST00000360213,p.L238P|uc010qyf.2,p.L238P	protein_coding	uc010qyf.2	nonsynonymous SNV	exon1	c.T713C	p.L238P	RAVMGLATPEARLKTLGTCASHLCA	RAVMGLATPEARPKTLGTCASHLCA	1.0	10.0	unscreened	-	4037_11:4567133-4567133 T>C_RAVMGLATPEARPKTLGTCASHLCA
3:9594070-9594087 GAAGAAGGCGGCCGCCTT>-	0.0	4037	LUNG	-	-	-	-	LHFPL4	ENST00000287585,p.93_98del|uc003bry.3,p.93_98del|NM_198560,p.93_98del	protein_coding, processed_transcript	uc003bry.3	nonframeshift deletion	exon2	c.277_294del	p.93_98del	FTDFSTIPSSAFKAAAFFVLLSMVL	FTDFSTIPSSAFVLLSMVLILGCIT	1.0	1.0	unscreened	-	4037_3:9594070-9594087 GAAGAAGGCGGCCGCCTT>-_FTDFSTIPSSAFVLLSMVLILGCIT
17:62230361-62230361 T>G	1.0	4037	LUNG	-	-	-	-	TEX2	NM_018469,p.Q1035H|uc002jee.3,p.Q1028H|ENST00000584379,p.Q1028H|NM_001288733,p.Q1028H|uc002jec.3,p.Q1028H|NM_001288732,p.Q1028H|ENST00000583097,p.Q1028H|ENST00000258991,p.Q1035H|uc002jed.3,p.Q1035H	retained_intron, protein_coding, processed_transcript	uc002jee.3	nonsynonymous SNV	exon10	c.A3084C	p.Q1028H	VSNTPLLLTVEVQECRGTLAVNIPP	VSNTPLLLTVEVHECRGTLAVNIPP	9.0	4.0	unscreened	-	4037_17:62230361-62230361 T>G_VSNTPLLLTVEVHECRGTLAVNIPP
5:153414431-153414431 T>C	1.0	4037	LUNG	-	-	-	-	FAM114A2	ENST00000522858,p.K28R|ENST00000519808,p.K28R|ENST00000522634,p.K28R|ENST00000520667,p.K28R|uc003lvb.3,p.K28R|ENST00000518102,p.K28R|uc003lvc.3,p.K28R|ENST00000517605,p.K28R|NM_018691,p.K28R|uc003lvd.3,p.K28R|ENST00000351797,p.K28R|ENST00000523705,p.K28R|ENST00000522395,p.K28R	protein_coding, processed_transcript	uc003lvd.3	nonsynonymous SNV	exon3	c.A83G	p.K28R	APILEDGNCEPAKNSESVDQGAKPE	APILEDGNCEPARNSESVDQGAKPE	8.0	4.0	unscreened	-	4037_5:153414431-153414431 T>C_APILEDGNCEPARNSESVDQGAKPE
1:47025917-47025917 T>G	0.0	4037	LUNG	-	-	-	-	MKNK1	NM_003684,p.Q387H|ENST00000371946,p.Q387H|uc001cqb.4,p.Q387H|NM_001135553,p.Q346H|ENST00000371945,p.Q346H|uc001cqc.4,p.Q346H|ENST00000371944,p.Q251H|uc010omd.3,p.Q251H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010omd.3	nonsynonymous SNV	exon12	c.A753C	p.Q251H	QGQAPEKGLPTPQVLQRNSSTMDLT	QGQAPEKGLPTPHVLQRNSSTMDLT	7.0	3.0	unscreened	-	4037_1:47025917-47025917 T>G_QGQAPEKGLPTPHVLQRNSSTMDLT
20:34050257-34050257 A>G	1.0	4037	LUNG	-	-	-	-	CEP250	ENST00000420564,p.E22G|uc021wcn.1,p.E22G|ENST00000397527,p.E22G|uc021wco.1,p.E22G|ENST00000397524,p.E22G|ENST00000425934,p.E22G|NM_007186,p.E22G|ENST00000446710,p.E22G|ENST00000342580,p.E22G|ENST00000461386,p.E22G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wco.1	nonsynonymous SNV	exon4	c.A65G	p.E22G	NMKPQSLQLVLEEQVLALQQQMAEN	NMKPQSLQLVLEGQVLALQQQMAEN	7.0	8.0	unscreened	-	4037_20:34050257-34050257 A>G_NMKPQSLQLVLEGQVLALQQQMAEN
16:24582270-24582270 A>C	0.0	4037	LUNG	-	-	-	-	RBBP6	ENST00000348022,p.T1261P|NM_018703,p.T1261P|uc010bxr.3,p.T455P|NM_006910,p.T1295P|uc002dmk.3,p.T1128P|uc002dmh.3,p.T1295P|uc002dmi.3,p.T1261P|ENST00000381039,p.T455P|ENST00000319715,p.T1295P	retained_intron, protein_coding	uc010bxr.3	nonsynonymous SNV	exon11	c.A1363C	p.T455P	EEKTDTKRTVIKTMEEYNNDNTAPA	EEKTDTKRTVIKPMEEYNNDNTAPA	8.0	2.0	unscreened	-	4037_16:24582270-24582270 A>C_EEKTDTKRTVIKPMEEYNNDNTAPA
19:51485062-51485062 T>G	1.0	4037	LUNG	-	-	-	-	KLK7	ENST00000595820,p.N61T|uc002pup.3,p.N61T|ENST00000391807,p.N61T|NM_005046,p.N61T|uc002puo.3,p.N61T|NM_139277,p.N61T	protein_coding, processed_transcript, nonsense_mediated_decay	uc002pup.3	nonsynonymous SNV	exon3	c.A182C	p.N61T	SGNQLHCGGVLVNERWVLTAAHCKM	SGNQLHCGGVLVTERWVLTAAHCKM	7.0	2.0	unscreened	-	4037_19:51485062-51485062 T>G_SGNQLHCGGVLVTERWVLTAAHCKM
12:122622762-122622762 T>G	0.0	4037	LUNG	-	-	-	-	MLXIP	uc001ubt.3,p.S333A|NM_014938,p.S726A|ENST00000538698,p.S333A|ENST00000319080,p.S726A|ENST00000366272,p.S197A|uc001ubq.3,p.S726A	retained_intron, protein_coding, processed_transcript	uc001ubt.3	nonsynonymous SNV	exon5	c.T997G	p.S333A	VAALKNRQMKHISAEQKRRFNIKMC	VAALKNRQMKHIAAEQKRRFNIKMC	7.0	3.0	unscreened	-	4037_12:122622762-122622762 T>G_VAALKNRQMKHIAAEQKRRFNIKMC
X:129159066-129159066 A>G	1.0	4037	LUNG	-	-	-	1	BCORL1	uc004evc.2,p.K26E|uc022cdu.1,p.K1264E|ENST00000456822,p.K864E|NM_021946,p.K1264E|ENST00000218147,p.K1264E|ENST00000303743,p.K1264E|ENST00000540052,p.K1264E	protein_coding, processed_transcript	uc022cdu.1	nonsynonymous SNV	exon6	c.A3790G	p.K1264E	TEEEEEVTPTPAKRRKVRKTQRDTQ	TEEEEEVTPTPAERRKVRKTQRDTQ	5.0	10.0	unscreened	-	4037_X:129159066-129159066 A>G_TEEEEEVTPTPAERRKVRKTQRDTQ
11:3724093-3724093 T>C	1.0	4037	LUNG	-	-	-	1	NUP98	ENST00000359171,p.S1038G|NM_016320,p.S1038G|ENST00000355260,p.S1038G|NM_139132,p.S1038G|ENST00000324932,p.S1038G|uc001lyi.3,p.S1038G|uc001lyh.3,p.S1038G|uc001lyg.3,p.S106G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001lyi.3	nonsynonymous SNV	exon23	c.A3112G	p.S1038G	SLVGGLLQSKFTSGAFLSPSVSVQE	SLVGGLLQSKFTGGAFLSPSVSVQE	9.0	3.0	unscreened	-	4037_11:3724093-3724093 T>C_SLVGGLLQSKFTGGAFLSPSVSVQE
6:33996063-33996063 T>G	0.0	4037	LUNG	-	-	-	-	GRM4	ENST00000544773,p.K672N|ENST00000374177,p.K725N|NM_001256812,p.K672N|uc011dsn.3,p.K794N|NM_001256809,p.K725N|NM_001282847,p.K533N|ENST00000374181,p.K841N|ENST00000535756,p.K708N|uc010jvi.4,p.K533N|uc031sol.1,p.K533N|ENST00000538487,p.K841N|uc003oiq.4,p.K708N|NM_001256811,p.K794N|uc031som.1,p.K725N|ENST00000455714,p.K701N|ENST00000545715,p.K533N|NM_001256813,p.K708N|uc011dsm.3,p.K672N|uc011dsl.3,p.K701N|uc003oio.4,p.K533N|uc010jvh.4,p.K841N|NM_000841,p.K841N	protein_coding	uc031som.1	nonsynonymous SNV	exon8	c.A2175C	p.K725N	SASVSLGMLYMPKVYIILFHPEQNV	SASVSLGMLYMPNVYIILFHPEQNV	1.0	8.0	unscreened	-	4037_6:33996063-33996063 T>G_SASVSLGMLYMPNVYIILFHPEQNV
22:19422360-19422361 AA>-	1.0	4037	LUNG	-	-	-	-	MRPL40	ENST00000333130,p.Q80fs|NM_003776,p.Q80fs|uc002zpg.3,p.Q80fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc002zpg.3	frameshift deletion	exon3	c.239_240del	p.Q80fs	LKRKIRKLEKATQELIPIEDFITPL	LKRKIRKLEKATRANSY	9.0	10.0	-	-	4037_22:19422360-19422361 AA>-_LKRKIRKLEKATRANSY
5:153414431-153414431 T>C	1.0	4037	LUNG	-	-	-	-	FAM114A2	ENST00000520313,p.K28R|uc011dda.2,p.K28R	protein_coding, processed_transcript	uc011dda.2	nonsynonymous SNV	exon2	c.A83G	p.K28R	APILEDGNCEPAKNSESVDQGISNV	APILEDGNCEPARNSESVDQGISNV	8.0	4.0	unscreened	-	4037_5:153414431-153414431 T>C_APILEDGNCEPARNSESVDQGISNV
7:21940673-21940673 A>G	1.0	4037	LUNG	-	-	-	-	DNAH11	NM_001277115,p.K4451R|uc031swp.1,p.K4451R|uc031swq.1,p.K2648R|ENST00000328843,p.K4458R|ENST00000409508,p.K4451R	retained_intron, protein_coding, processed_transcript	uc031swq.1	nonsynonymous SNV	exon82	c.A7943G	p.K2648R	DTQAGTIVEARLKELACPMPVIFAK	DTQAGTIVEARLRELACPMPVIFAK	5.0	4.0	unscreened	-	4037_7:21940673-21940673 A>G_DTQAGTIVEARLRELACPMPVIFAK
14:24765718-24765718 A>T	1.0	4037	LUNG	-	-	-	-	DHRS1	ENST00000558340,p.L124H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000558340	nonsynonymous SNV	exon4	c.T371A	p.L124H	PASMWDDINNVGLRKPAVYVQCPLW	PASMWDDINNVGHRKPAVYVQCPLW	6.0	9.0	unscreened	-	4037_14:24765718-24765718 A>T_PASMWDDINNVGHRKPAVYVQCPLW
7:73466269-73466269 C>T	1.0	4037	LUNG	-	-	-	2	ELN	ENST00000458204,p.A292V|NM_001278913,p.A266V|NM_001278915,p.A302V|uc003tzq.3,p.A185V|uc003tzw.3,p.A302V|NM_001278914,p.A297V|NM_001081755,p.A302V|NM_000501,p.A302V|NM_001278916,p.A288V|ENST00000320399,p.A302V|uc003tzy.3,p.A297V|ENST00000429192,p.A307V|ENST00000252034,p.A302V|NM_001081754,p.A307V|ENST00000380576,p.A302V|NM_001081752,p.A292V|uc003tzx.3,p.A292V|uc003tzz.3,p.A266V|ENST00000358929,p.A302V|uc003tzv.3,p.A292V|ENST00000380584,p.A288V|uc003tzo.3,p.A288V|ENST00000380562,p.A302V|uc003tzs.3,p.A302V|NM_001278912,p.A302V|ENST00000380575,p.A292V|ENST00000380553,p.A185V|ENST00000414324,p.A297V|ENST00000320492,p.A266V|uc003tzp.3,p.A258V|uc011kff.2,p.A302V|uc003tzt.3,p.A307V|ENST00000445912,p.A302V|ENST00000438906,p.A280V|NM_001278918,p.A258V|ENST00000357036,p.A307V|uc003tzu.3,p.A307V|uc003tzn.3,p.A302V|NM_001278917,p.A292V|NM_001081753,p.A307V|NM_001278939,p.A302V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kff.2	nonsynonymous SNV	exon17	c.C905T	p.A302V	PGIGGIAGVGTPAAAAAAAAAAKAA	PGIGGIAGVGTPVAAAAAAAAAKAA	5.0	10.0	unscreened	-	4037_7:73466269-73466269 C>T_PGIGGIAGVGTPVAAAAAAAAAKAA
16:2335615-2335615 A>T	1.0	4037	LUNG	-	-	-	-	ABCA3	uc002cpy.1,p.L1104Q|ENST00000382381,p.L1046Q|uc010bsk.1,p.L1046Q|ENST00000301732,p.L1104Q|NM_001089,p.L1104Q	retained_intron, protein_coding	uc010bsk.1	nonsynonymous SNV	exon22	c.T3137A	p.L1046Q	NEGRKGFDIALNLLFAMAFLASTFS	NEGRKGFDIALNQLFAMAFLASTFS	5.0	3.0	unscreened	-	4037_16:2335615-2335615 A>T_NEGRKGFDIALNQLFAMAFLASTFS
3:65607694-65607694 T>G	1.0	4037	LUNG	-	-	-	-	MAGI1	NM_001033057,p.E128A|uc003dmo.3,p.E128A|ENST00000497477,p.E128A|ENST00000402939,p.E128A|uc003dmn.3,p.E128A|uc003dmp.3,p.E128A|ENST00000483466,p.E128A|NM_004742,p.E128A|uc003dmr.3,p.E128A|uc003dmm.3,p.E128A|NM_015520,p.E128A|ENST00000330909,p.E128A|uc021xac.1,p.E128A	retained_intron, protein_coding, processed_transcript	uc021xac.1	nonsynonymous SNV	exon2	c.A383C	p.E128A	LNQRFQKGSPDHELQQTIRDNLYRH	LNQRFQKGSPDHALQQTIRDNLYRH	7.0	5.0	unscreened	-	4037_3:65607694-65607694 T>G_LNQRFQKGSPDHALQQTIRDNLYRH
2:219695589-219695589 A>G	1.0	4037	LUNG	-	-	-	-	PRKAG3	ENST00000392098,p.W37R|NM_017431,p.W37R|uc002vjb.1,p.W37R|ENST00000430489,p.W37R|ENST00000470307,p.W37R|uc010fvy.1,p.W37R|ENST00000529249,p.W37R|ENST00000233944,p.W37R|uc010zko.1,p.W37R	retained_intron, protein_coding, nonsense_mediated_decay	uc010zko.1	nonsynonymous SNV	exon3	c.T109C	p.W37R	EMSFLEQENSSSWPSPAVTSSSERI	EMSFLEQENSSSRPSPAVTSSSERI	1.0	10.0	unscreened	-	4037_2:219695589-219695589 A>G_EMSFLEQENSSSRPSPAVTSSSERI
1:43110411-43110411 T>C	0.0	4037	LUNG	-	-	-	-	CCDC30	ENST00000507855,p.L397P|ENST00000390640,p.L397P|ENST00000477155,p.L306P|ENST00000340612,p.L608P|uc009vwk.1,p.L608P|NM_001080850,p.L608P|ENST00000342022,p.L608P|uc001chn.2,p.L397P|uc001chm.2,p.L306P|ENST00000428554,p.L608P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009vwk.1	nonsynonymous SNV	exon13	c.T1823C	p.L608P	MDKENKQLQENSLRLTQQIGFLERI	MDKENKQLQENSPRLTQQIGFLERI	4.0	1.0	unscreened	-	4037_1:43110411-43110411 T>C_MDKENKQLQENSPRLTQQIGFLERI
1:51032867-51032867 T>A	1.0	4037	LUNG	-	-	-	-	FAF1	ENST00000545823,p.S142C|uc001cse.1,p.S384C|ENST00000396153,p.S384C|uc010onc.1,p.S142C|ENST00000494400,p.S190C|ENST00000371778,p.S384C|NM_007051,p.S384C	protein_coding, processed_transcript, nonsense_mediated_decay	uc010onc.1	nonsynonymous SNV	exon6	c.A424T	p.S142C	RKLLAIYLHHDESVLTNVFCSQMLC	RKLLAIYLHHDECVLTNVFCSQMLC	8.0	9.0	-	-	4037_1:51032867-51032867 T>A_RKLLAIYLHHDECVLTNVFCSQMLC
6:21201491-21201491 T>C	0.0	4037	LUNG	-	-	-	-	CDKAL1	uc003ndd.2,p.S512P|uc003nde.2,p.S421P|ENST00000378624,p.S421P|ENST00000378610,p.S512P|NM_017774,p.S512P|uc021ymk.1,p.S512P|ENST00000274695,p.S512P	protein_coding, processed_transcript	uc021ymk.1	nonsynonymous SNV	exon13	c.T1534C	p.S512P	PSISKPLAKGEVSGLTKDFRNGLGN	PSISKPLAKGEVPGLTKDFRNGLGN	7.0	6.0	unscreened	-	4037_6:21201491-21201491 T>C_PSISKPLAKGEVPGLTKDFRNGLGN
2:110904369-110904369 A>C	0.0	4037	LUNG	-	-	-	-	NPHP1	uc010ywx.2,p.L437R|NM_001128179,p.L375R|uc002tfl.4,p.L494R|ENST00000417665,p.L437R|uc002tfm.4,p.L438R|uc002tfo.4,p.L375R|ENST00000445609,p.L438R|uc002tfn.4,p.L493R|uc010fjv.1,p.L437R|ENST00000316534,p.L494R|NM_001128178,p.L438R|ENST00000355301,p.L375R|ENST00000393272,p.L493R|NM_207181,p.L493R|NM_000272,p.L494R	retained_intron, protein_coding, nonsense_mediated_decay	uc010ywx.2	nonsynonymous SNV	exon14	c.T1310G	p.L437R	GERGELSCGWVFLKLFDASGVPIPA	GERGELSCGWVFRKLFDASGVPIPA	4.0	1.0	unscreened	-	4037_2:110904369-110904369 A>C_GERGELSCGWVFRKLFDASGVPIPA
1:11884558-11884558 A>T	1.0	4037	LUNG	-	-	-	-	CLCN6	ENST00000376496,p.K199M|ENST00000376487,p.K177M|uc009vng.2,p.K199M|ENST00000312413,p.K199M|uc009vnh.2,p.K199M|uc009vnf.2,p.K199M|ENST00000346436,p.K199M	protein_coding, processed_transcript	uc009vnh.2	nonsynonymous SNV	exon8	c.A596T	p.K199M	VLFSVAGGLFVEKEGPMIHSGSVVG	VLFSVAGGLFVEMEGPMIHSGSVVG	6.0	9.0	unscreened	-	4037_1:11884558-11884558 A>T_VLFSVAGGLFVEMEGPMIHSGSVVG
4:16165022-16165022 G>A	1.0	4037	LUNG	-	-	-	-	TAPT1	uc010ied.1,p.T538M|NM_153365,p.T538M|uc011bxe.1,p.T427M|ENST00000399920,p.T427M|ENST00000405303,p.T538M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bxe.1	nonsynonymous SNV	exon13	c.C1280T	p.T427M	FLTTPDGDEKDITQDNSELKHRSSK	FLTTPDGDEKDIMQDNSELKHRSSK	7.0	10.0	-	-	4037_4:16165022-16165022 G>A_FLTTPDGDEKDIMQDNSELKHRSSK
14:20216395-20216395 A>C	0.0	4037	LUNG	-	-	ID=COSM1218688;OCCURENCE=1(large_intestine)	-	OR4Q3	uc010tkt.2,p.K270T|ENST00000331723,p.K270T|NM_172194,p.K270T	protein_coding	uc010tkt.2	nonsynonymous SNV	exon1	c.A809C	p.K270T	IYLRPFCSFSVDKIFSLFYTVITPM	IYLRPFCSFSVDTIFSLFYTVITPM	1.0	1.0	unscreened	-	4037_14:20216395-20216395 A>C_IYLRPFCSFSVDTIFSLFYTVITPM
6:4133936-4133936 C>G	0.0	4037	LUNG	-	-	-	-	ECI2;ECI2	NM_206836,p.Q20H|uc003mwf.3,p.Q20H|ENST00000478266,p.Q20H|ENST00000380118,p.Q20H|ENST00000380120,p.Q20H	-	uc003mwf.3	nonsynonymous SNV	exon2	c.G60C	p.Q20H	WRLARRSCPSSLQVTSFPVVQLHMN	WRLARRSCPSSLHVTSFPVVQLHMN	1.0	1.0	unscreened	-	4037_6:4133936-4133936 C>G_WRLARRSCPSSLHVTSFPVVQLHMN
19:36351898-36351898 C>T	0.0	4037	LUNG	-	-	-	-	KIRREL2	ENST00000262625,p.P339L|ENST00000360202,p.P339L|uc002oca.4,p.P289L|NM_199179,p.P289L|NM_199180,p.P339L|uc002ocd.4,p.P336L|ENST00000347900,p.P289L|ENST00000586102,p.P319L|uc002obz.4,p.P339L|NM_032123,p.P339L|uc002ocb.4,p.P339L|ENST00000592409,p.P339L	protein_coding	uc002ocd.4	nonsynonymous SNV	exon8	c.C1007T	p.P336L	EDASFSCAWRGNPLPRVTWTRRGGA	EDASFSCAWRGNLLPRVTWTRRGGA	1.0	10.0	-	-	4037_19:36351898-36351898 C>T_EDASFSCAWRGNLLPRVTWTRRGGA
19:56011458-56011458 A>C	0.0	4037	LUNG	-	-	-	-	SSC5D	ENST00000587166,p.T661P|NM_001195267,p.T661P|uc021vbw.1,p.T661P|uc002qlg.4,p.T661P|NM_001144950,p.T661P|ENST00000389623,p.T661P	retained_intron, protein_coding	uc021vbw.1	nonsynonymous SNV	exon10	c.A1981C	p.T661P	TKHSRAQSPPDLTSQTTAALTTEAS	TKHSRAQSPPDLPSQTTAALTTEAS	4.0	3.0	unscreened	-	4037_19:56011458-56011458 A>C_TKHSRAQSPPDLPSQTTAALTTEAS
6:74472202-74472202 A>C	0.0	4037	LUNG	-	-	-	-	CD109	NM_133493,p.K285T|NM_001159587,p.K285T|ENST00000422508,p.K208T|NM_001159588,p.K208T|uc003php.3,p.K285T|uc003phq.3,p.K285T|ENST00000437994,p.K285T|ENST00000287097,p.K285T|uc010kba.3,p.K208T	protein_coding, processed_transcript	uc010kba.3	nonsynonymous SNV	exon7	c.A623C	p.K208T	FWGKKKNITKTFKINGSANFSFNDE	FWGKKKNITKTFTINGSANFSFNDE	5.0	8.0	unscreened	-	4037_6:74472202-74472202 A>C_FWGKKKNITKTFTINGSANFSFNDE
6:56416995-56416995 A>G	0.0	4037	LUNG	-	-	-	-	DST	uc021zay.2,p.L3275P|uc021zba.2,p.L3413P|ENST00000421834,p.L3235P|uc021zaz.2,p.L3235P|ENST00000244364,p.L2909P|uc003pcy.4,p.L2909P|NM_015548,p.L2909P|ENST00000446842,p.L4997P|ENST00000370788,p.L3235P|ENST00000370754,p.L5501P|NM_001144770,p.L3275P|ENST00000370769,p.L5323P|NM_001144769,p.L3413P|ENST00000361203,p.L5321P|NM_183380,p.L3235P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zba.2	nonsynonymous SNV	exon55	c.T10238C	p.L3413P	PVGMETETINQQLNMFKVFQKEEIE	PVGMETETINQQPNMFKVFQKEEIE	8.0	1.0	unscreened	-	4037_6:56416995-56416995 A>G_PVGMETETINQQPNMFKVFQKEEIE
20:36641486-36641486 A>C	0.0	4037	LUNG	-	-	-	-	TTI1	ENST00000373448,p.F245V|uc002xhl.3,p.F245V|ENST00000373447,p.F245V|uc002xhm.3,p.F245V|NM_014657,p.F245V|ENST00000449821,p.F245V	protein_coding, processed_transcript	uc002xhm.3	nonsynonymous SNV	exon2	c.T733G	p.F245V	VSSLKIFYKTVSFIMADEQLKRISK	VSSLKIFYKTVSVIMADEQLKRISK	7.0	2.0	unscreened	-	4037_20:36641486-36641486 A>C_VSSLKIFYKTVSVIMADEQLKRISK
4:42154064-42154064 T>C	0.0	4037	LUNG	-	-	-	-	BEND4	ENST00000502486,p.K33E|NM_207406,p.K33E|uc003gwm.3,p.K33E|uc011byy.1,p.K33E|ENST00000504360,p.K29E|NM_001159547,p.K33E|uc003gwn.3,p.K33E	protein_coding	uc011byy.1	nonsynonymous SNV	exon1	c.A97G	p.K33E	RSPYSVLKTFPSKRPALAKRYERPT	RSPYSVLKTFPSERPALAKRYERPT	1.0	4.0	unscreened	-	4037_4:42154064-42154064 T>C_RSPYSVLKTFPSERPALAKRYERPT
10:72492103-72492103 A>G	1.0	4037	LUNG	-	-	-	-	ADAMTS14	ENST00000373207,p.E399G|uc001jrh.3,p.E399G|NM_139155,p.E402G|uc001jrg.3,p.E402G|NM_080722,p.E399G|ENST00000373208,p.E402G	protein_coding	uc001jrh.3	nonsynonymous SNV	exon7	c.A1196G	p.E399G	EDGFSSAFVIAHETGHVLGMEHDGQ	EDGFSSAFVIAHGTGHVLGMEHDGQ	3.0	9.0	unscreened	-	4037_10:72492103-72492103 A>G_EDGFSSAFVIAHGTGHVLGMEHDGQ
10:76602827-76602827 A>G	1.0	4037	LUNG	-	-	-	1	KAT6B	ENST00000287239,p.Y71C|uc001jwn.2,p.Y71C|ENST00000372711,p.Y71C|NM_001256468,p.Y71C|ENST00000372724,p.Y71C|NM_001256469,p.Y71C|uc001jwm.2,p.Y71C|ENST00000372714,p.Y71C|uc031pvy.1,p.Y71C|ENST00000372725,p.Y71C|NM_012330,p.Y71C	protein_coding, processed_transcript	uc031pvy.1	nonsynonymous SNV	exon3	c.A212G	p.Y71C	SVLKVTNKGLASYKDPDNPGRFSSV	SVLKVTNKGLASCKDPDNPGRFSSV	7.0	8.0	unscreened	-	4037_10:76602827-76602827 A>G_SVLKVTNKGLASCKDPDNPGRFSSV
6:148865442-148865442 A>T	0.0	4037	LUNG	-	-	-	-	SASH1	uc011eeb.1,p.T707S|ENST00000367467,p.T946S|uc003qme.1,p.T946S|uc003qmf.1,p.T356S|NM_015278,p.T946S	protein_coding, processed_transcript	uc011eeb.1	nonsynonymous SNV	exon11	c.A2119T	p.T707S	AQPPGAKHGLARTPLEGHRKGHEFE	AQPPGAKHGLARSPLEGHRKGHEFE	6.0	3.0	unscreened	-	4037_6:148865442-148865442 A>T_AQPPGAKHGLARSPLEGHRKGHEFE
14:21960978-21960978 A>T	1.0	4037	LUNG	-	-	-	-	TOX4	uc010tlu.2,p.Q378H|uc001waz.3,p.Q401H|NM_014828,p.Q401H|uc001way.3,p.Q271H|ENST00000262709,p.Q401H|ENST00000405508,p.Q401H|ENST00000448790,p.Q378H|uc010tlv.2,p.Q271H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tlv.2	nonsynonymous SNV	exon5	c.A813T	p.Q271H	VIPATVVTSRGLQLGQTSTATIQPS	VIPATVVTSRGLHLGQTSTATIQPS	9.0	9.0	-	-	4037_14:21960978-21960978 A>T_VIPATVVTSRGLHLGQTSTATIQPS
2:160261559-160261559 A>G	1.0	4037	LUNG	-	-	-	-	BAZ2B	NM_001289975,p.V879A|uc002uap.3,p.V879A|ENST00000392783,p.V915A|NM_013450,p.V915A|ENST00000392782,p.V879A|ENST00000355831,p.V881A|uc002uao.3,p.V915A|uc002uaq.1,p.V745A|uc002uar.1,p.V488A|ENST00000343439,p.V815A	retained_intron, protein_coding, processed_transcript	uc002uar.1	nonsynonymous SNV	exon7	c.T1463C	p.V488A	LLRKLQKQEQARVAKEAKKQQAIMA	LLRKLQKQEQARAAKEAKKQQAIMA	6.0	4.0	unscreened	-	4037_2:160261559-160261559 A>G_LLRKLQKQEQARAAKEAKKQQAIMA
6:17675561-17675561 A>G	1.0	4037	LUNG	-	-	-	-	NUP153	ENST00000537253,p.W208R|ENST00000262077,p.W208R|NM_005124,p.W208R|uc003ncd.2,p.W208R|uc011dje.2,p.W208R|NM_001278210,p.W208R|uc010jpl.2,p.W208R|NM_001278209,p.W208R	protein_coding	uc011dje.2	nonsynonymous SNV	exon4	c.T622C	p.W208R	ITVSKNTSLPPLWSPEAERSHSLSQ	ITVSKNTSLPPLRSPEAERSHSLSQ	7.0	2.0	unscreened	-	4037_6:17675561-17675561 A>G_ITVSKNTSLPPLRSPEAERSHSLSQ
14:95910847-95910847 T>A	1.0	4037	LUNG	-	-	-	-	SYNE3	ENST00000553340,p.K584I|uc001yej.1,p.K584I	retained_intron, protein_coding	uc001yej.1	nonsynonymous SNV	exon9	c.A1751T	p.K584I	QAEKGLQRDLPGKQAQLSRLQVRGL	QAEKGLQRDLPGIQAQLSRLQVRGL	3.0	10.0	unscreened	-	4037_14:95910847-95910847 T>A_QAEKGLQRDLPGIQAQLSRLQVRGL
1:115223069-115223069 T>-	0.0	4037	LUNG	-	-	-	-	AMPD1	ENST00000353928,p.D193fs|ENST00000520113,p.D226fs|uc001eff.2,p.D222fs|uc001efe.2,p.D226fs|NM_001172626,p.D222fs|ENST00000369538,p.D222fs|NM_000036,p.D226fs	protein_coding, nonsense_mediated_decay	uc001eff.2	frameshift deletion	exon5	c.665delA	p.D222fs	YPVFTPPVKKGEDPFRTDNLPENLG	YPVFTPPVKKGEAPSEQTTFLKTWAITSK	1.0	5.0	unscreened	-	4037_1:115223069-115223069 T>-_YPVFTPPVKKGEAPSEQTTFLKTWAITSK
2:230911414-230911414 A>G	0.0	4037	LUNG	-	-	-	-	SLC16A14	uc002vqe.3,p.L143P|ENST00000457406,p.L143P|uc002vqd.2,p.L143P|ENST00000295190,p.L143P|ENST00000412034,p.L143P|uc002vqf.3,p.L143P|NM_152527,p.L143P	protein_coding	uc002vqf.3	nonsynonymous SNV	exon4	c.T428C	p.L143P	GVAAGLGSGMAYLPAVVMVGRYFQK	GVAAGLGSGMAYPPAVVMVGRYFQK	5.0	7.0	unscreened	-	4037_2:230911414-230911414 A>G_GVAAGLGSGMAYPPAVVMVGRYFQK
4:144618242-144618242 A>T	0.0	4037	LUNG	-	-	-	-	FREM3	ENST00000329798,p.L1196H|NM_001168235,p.L1196H|uc021xsj.1,p.L1196H	protein_coding, processed_transcript	uc021xsj.1	nonsynonymous SNV	exon1	c.T3587A	p.L1196H	IIILPTNDEQPKLFAHEFKVLEGMS	IIILPTNDEQPKHFAHEFKVLEGMS	1.0	9.0	unscreened	-	4037_4:144618242-144618242 A>T_IIILPTNDEQPKHFAHEFKVLEGMS
15:65868707-65868707 A>T	1.0	4037	LUNG	-	-	-	-	PTPLAD1	ENST00000565299,p.K398M|uc010uiw.2,p.K305M|ENST00000562901,p.K243M|ENST00000261875,p.K360M|NM_016395,p.K360M|ENST00000442729,p.K305M|ENST00000566511,p.K243M|ENST00000569894,p.K243M|ENST00000566074,p.K243M|uc002apc.3,p.K360M|ENST00000568793,p.K335M	retained_intron, protein_coding, processed_transcript, TEC	uc010uiw.2	nonsynonymous SNV	exon10	c.A914T	p.K305M	KQRRRRYGQKKKKIH	KQRRRRYGQKKKMIH	10.0	8.0	unscreened	-	4037_15:65868707-65868707 A>T_KQRRRRYGQKKKMIH
15:78917503-78917503 T>C	0.0	4037	LUNG	-	-	-	-	CHRNB4	uc002bee.1,p.R164G|ENST00000412074,p.R164G|NM_001256567,p.R164G	protein_coding, nonsense_mediated_decay	uc002bee.1	nonsynonymous SNV	exon5	c.A490G	p.R164G	SYRPSSRPMQLLRGPTLPSVTEGPL	SYRPSSRPMQLLGGPTLPSVTEGPL	1.0	10.0	unscreened	-	4037_15:78917503-78917503 T>C_SYRPSSRPMQLLGGPTLPSVTEGPL
14:95910847-95910847 T>A	1.0	4037	LUNG	-	-	-	-	SYNE3	ENST00000557275,p.K584I|NM_152592,p.K584I|ENST00000554873,p.K341I|ENST00000334258,p.K584I|uc001yei.4,p.K584I|uc010avi.3,p.K584I	retained_intron, protein_coding	uc010avi.3	nonsynonymous SNV	exon9	c.A1751T	p.K584I	QAEKGLQRDLPGKQAQLSRLQGLQE	QAEKGLQRDLPGIQAQLSRLQGLQE	3.0	10.0	unscreened	-	4037_14:95910847-95910847 T>A_QAEKGLQRDLPGIQAQLSRLQGLQE
20:7886815-7886815 T>A	0.0	4037	LUNG	-	-	-	-	HAO1	NM_017545,p.K236M|uc010gbu.3,p.K236M|uc002wmw.1,p.K236M|ENST00000378789,p.K236M	protein_coding	uc010gbu.3	nonsynonymous SNV	exon4	c.A707T	p.K236M	WLRRLTSLPIVAKGILRGDDAREAV	WLRRLTSLPIVAMGILRGDDAREAV	1.0	9.0	unscreened	-	4037_20:7886815-7886815 T>A_WLRRLTSLPIVAMGILRGDDAREAV
2:8870981-8870981 G>C	1.0	4037	LUNG	-	-	-	-	KIDINS220	ENST00000418530,p.L1630V|uc002qzb.2,p.L583V|ENST00000427284,p.L1710V|ENST00000473731,p.L1710V|NM_020738,p.L1729V|uc002qzd.2,p.L1630V|ENST00000256707,p.L1729V|uc002qzc.2,p.L1729V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002qzd.2	nonsynonymous SNV	exon29	c.C4888G	p.L1630V	SSPNPTTIQNENLKSMTHKRSQRSS	SSPNPTTIQNENVKSMTHKRSQRSS	8.0	8.0	unscreened	-	4037_2:8870981-8870981 G>C_SSPNPTTIQNENVKSMTHKRSQRSS
1:39853864-39853864 A>G	0.0	4037	LUNG	-	-	-	-	MACF1	uc021olt.1,p.K3055R|ENST00000545844,p.K3055R|ENST00000539005,p.K3034R|uc031pmc.1,p.K3055R|NM_012090,p.K3055R|ENST00000372915,p.K5122R|ENST00000361689,p.K3055R|uc031pmd.1,p.K3557R|ENST00000567887,p.K5154R|ENST00000289893,p.K3557R|uc001cdc.2,p.K3034R|ENST00000317713,p.K3055R|ENST00000564288,p.K5117R|uc001cda.1,p.K2942R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pmd.1	nonsynonymous SNV	exon22	c.A10670G	p.K3557R	QRVNSGCVMMENKLEGIGQFHCRVR	QRVNSGCVMMENRLEGIGQFHCRVR	10.0	4.0	unscreened	-	4037_1:39853864-39853864 A>G_QRVNSGCVMMENRLEGIGQFHCRVR
16:16173318-16173318 G>A	0.0	4037	LUNG	-	-	-	-	ABCC1	ENST00000349029,p.G700R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000349029	nonsynonymous SNV	exon16	c.G2098A	p.G700R	LSALLAEMDKVEGHVAIKTRILVTH	LSALLAEMDKVERHVAIKTRILVTH	7.0	3.0	unscreened	-	4037_16:16173318-16173318 G>A_LSALLAEMDKVERHVAIKTRILVTH
19:58849701-58849701 A>G	0.0	4037	LUNG	-	-	-	-	ZSCAN22	uc010yhz.1,p.R157G	protein_coding	uc010yhz.1	nonsynonymous SNV	exon2	c.A469G	p.R157G	VTWESQSHQMSLRPSWEVFPLDPPL	VTWESQSHQMSLGPSWEVFPLDPPL	3.0	5.0	unscreened	-	4037_19:58849701-58849701 A>G_VTWESQSHQMSLGPSWEVFPLDPPL
7:94038098-94038098 C>T	0.0	4037	LUNG	-	-	-	-	COL1A2	uc003ung.1,p.A252V|NM_000089,p.A252V|ENST00000297268,p.A252V	retained_intron, protein_coding	uc003ung.1	nonsynonymous SNV	exon16	c.C755T	p.A252V	VGPVGPAGPIGSAGPPGFPGAPGPK	VGPVGPAGPIGSVGPPGFPGAPGPK	10.0	5.0	unscreened	-	4037_7:94038098-94038098 C>T_VGPVGPAGPIGSVGPPGFPGAPGPK
21:35208886-35208886 T>G	0.0	4037	LUNG	-	-	-	-	ITSN1	uc002ysz.3,p.F1128C|ENST00000399367,p.F1199C|uc002ysx.3,p.F1162C|NM_003024,p.F1204C|ENST00000381318,p.F1204C|uc010gmg.3,p.F1091C|uc002yti.2,p.F42C|uc002ytb.1,p.F1199C|uc002ysy.3,p.F1199C|ENST00000399353,p.F1162C|ENST00000399352,p.F1199C|ENST00000381285,p.F1204C|uc010gmk.3,p.F1096C|uc002yta.1,p.F1204C|NM_001001132,p.F1204C|ENST00000437442,p.F1199C|uc021wip.1,p.F1022C|uc010gmi.3,p.F1167C|uc010gmj.3,p.F1083C|uc002ytj.2,p.F1199C|uc002ysw.3,p.F1204C|uc002yte.3,p.F1067C|ENST00000399355,p.F1133C|ENST00000399349,p.F1128C|ENST00000381291,p.F1204C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wip.1	nonsynonymous SNV	exon21	c.T3065G	p.F1022C	WWKGEVNGQVGLFPSNYVKLTTDMD	WWKGEVNGQVGLCPSNYVKLTTDMD	6.0	3.0	unscreened	-	4037_21:35208886-35208886 T>G_WWKGEVNGQVGLCPSNYVKLTTDMD
12:125599048-125599048 A>C	0.0	4037	LUNG	-	-	-	-	AACS	NM_023928,p.E314A|uc001uhc.3,p.E314A|ENST00000316519,p.E314A|ENST00000441247,p.E133A|ENST00000261686,p.E314A|uc001uhd.3,p.E314A	protein_coding, processed_transcript, nonsense_mediated_decay	uc001uhd.3	nonsynonymous SNV	exon9	c.A941C	p.E314A	HSAGGTLIQHLKEHLLHGNMTSSDI	HSAGGTLIQHLKAHLLHGNMTSSDI	9.0	4.0	unscreened	-	4037_12:125599048-125599048 A>C_HSAGGTLIQHLKAHLLHGNMTSSDI
3:33866727-33866727 T>G	1.0	4037	LUNG	-	-	-	-	PDCD6IP	NM_001162429,p.L171V|uc003cfy.4,p.L171V|NM_013374,p.L171V|NM_001256192,p.L171V|ENST00000413073,p.L121V|uc003cfx.4,p.L171V|ENST00000457054,p.L171V|ENST00000307296,p.L171V|uc011axv.3,p.L171V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011axv.3	nonsynonymous SNV	exon5	c.T511G	p.L171V	AFLHIKETVLSALSREPTVDISPDT	AFLHIKETVLSAVSREPTVDISPDT	10.0	2.0	unscreened	-	4037_3:33866727-33866727 T>G_AFLHIKETVLSAVSREPTVDISPDT
7:83631320-83631320 G>T	0.0	4037	LUNG	-	-	-	-	SEMA3A	ENST00000436949,p.T468N|ENST00000265362,p.T468N|NM_006080,p.T468N|uc003uhz.3,p.T468N	protein_coding, processed_transcript	uc003uhz.3	nonsynonymous SNV	exon12	c.C1403A	p.T468N	GTVLKVVSIPKETWYDLEEVLLEEM	GTVLKVVSIPKENWYDLEEVLLEEM	3.0	4.0	unscreened	-	4037_7:83631320-83631320 G>T_GTVLKVVSIPKENWYDLEEVLLEEM
2:61235961-61235961 A>C	0.0	4037	LUNG	-	-	-	-	PUS10	ENST00000421319,p.L106V|uc002sao.3,p.L106V|ENST00000407787,p.L106V|NM_144709,p.L106V|ENST00000316752,p.L106V|uc010fci.3,p.L106V	protein_coding, nonsense_mediated_decay	uc010fci.3	nonsynonymous SNV	exon3	c.T316G	p.L106V	SHVGSTASKNSNLNVCNVCLGILQE	SHVGSTASKNSNVNVCNVCLGILQE	6.0	1.0	unscreened	-	4037_2:61235961-61235961 A>C_SHVGSTASKNSNVNVCNVCLGILQE
1:44163572-44163572 A>G	1.0	4037	LUNG	-	-	-	-	KDM4A	NM_014663,p.K910R|uc001cjx.3,p.K910R|ENST00000372396,p.K910R	protein_coding, processed_transcript	uc001cjx.3	nonsynonymous SNV	exon19	c.A2729G	p.K910R	SITAGQKVISKHKNGRFYQCEVVRL	SITAGQKVISKHRNGRFYQCEVVRL	8.0	4.0	unscreened	-	4037_1:44163572-44163572 A>G_SITAGQKVISKHRNGRFYQCEVVRL
X:46541867-46541867 T>A	0.0	4037	LUNG	-	-	-	-	SLC9A7	NM_032591,p.L143F|uc004dgu.2,p.L143F|NM_001257291,p.L143F|uc004dgv.2,p.L143F|ENST00000328306,p.L143F	protein_coding, processed_transcript	uc004dgv.2	nonsynonymous SNV	exon2	c.A429T	p.L143F	SCTQEDRAFSTLLVNVSGKFFEYTL	SCTQEDRAFSTLFVNVSGKFFEYTL	5.0	7.0	unscreened	-	4037_X:46541867-46541867 T>A_SCTQEDRAFSTLFVNVSGKFFEYTL
22:31532762-31532762 T>C	0.0	4037	LUNG	-	-	-	-	PLA2G3	uc003aka.3,p.H408R|NM_015715,p.H408R|ENST00000215885,p.H408R	protein_coding	uc003aka.3	nonsynonymous SNV	exon6	c.A1223G	p.H408R	NCTRRLARFLRLHSPPEVTNMLWEL	NCTRRLARFLRLRSPPEVTNMLWEL	2.0	8.0	unscreened	-	4037_22:31532762-31532762 T>C_NCTRRLARFLRLRSPPEVTNMLWEL
19:53456012-53456012 T>G	0.0	4037	LUNG	-	-	-	-	ZNF816,ZNF816-ZNF321P	ENST00000391777,p.E61A|uc010eqj.3,p.E61A|ENST00000434371,p.E61A|uc002qak.3,p.E61A|NM_001202473,p.E61A	protein_coding	uc010eqj.3	nonsynonymous SNV	exon3	c.A182C	p.E61A	YRAVMLENYRNLEFVDISSKCMMKE	YRAVMLENYRNLAFVDISSKCMMKE	7.0	1.0	unscreened	-	4037_19:53456012-53456012 T>G_YRAVMLENYRNLAFVDISSKCMMKE
19:44341251-44341251 A>G	0.0	4037	LUNG	-	-	-	-	ZNF283	ENST00000588967,p.E19G|ENST00000310738,p.E50G|uc031rlc.1,p.E50G|uc002oxr.4,p.E86G|NM_181845,p.E86G|ENST00000324461,p.E86G|ENST00000593164,p.E61G	retained_intron, protein_coding, processed_transcript	uc031rlc.1	nonsynonymous SNV	exon4	c.A149G	p.E50G	TFRDVAIDFSQEEWECLDPAQRDLY	TFRDVAIDFSQEGWECLDPAQRDLY	5.0	1.0	unscreened	-	4037_19:44341251-44341251 A>G_TFRDVAIDFSQEGWECLDPAQRDLY
19:44341251-44341251 A>G	0.0	4037	LUNG	-	-	-	-	ZNF283	ENST00000590950,p.E61G	retained_intron, protein_coding, processed_transcript	ENST00000590950	nonsynonymous SNV	exon5	c.A182G	p.E61G	TFRDVAIDFSQEEWECLDPAQRDFR	TFRDVAIDFSQEGWECLDPAQRDFR	5.0	1.0	unscreened	-	4037_19:44341251-44341251 A>G_TFRDVAIDFSQEGWECLDPAQRDFR
22:46627738-46627738 T>C	0.0	4037	LUNG	-	-	-	-	PPARA	ENST00000402126,p.L254P|uc010hab.1,p.L254P|NM_005036,p.L254P|uc010hac.1,p.L51P|uc003bgw.1,p.L254P|ENST00000407236,p.L254P|ENST00000262735,p.L254P|uc003bhb.1,p.L254P|NM_001001928,p.L254P|ENST00000396000,p.L254P|uc003bgx.1,p.L254P	retained_intron, protein_coding, processed_transcript	uc010hac.1	nonsynonymous SNV	exon4	c.T152C	p.L51P	HDMETLCMAEKTLVAKLVANGIQNK	HDMETLCMAEKTPVAKLVANGIQNK	6.0	7.0	unscreened	-	4037_22:46627738-46627738 T>C_HDMETLCMAEKTPVAKLVANGIQNK
19:44341251-44341251 A>G	0.0	4037	LUNG	-	-	-	-	ZNF283	ENST00000593268,p.E86G	retained_intron, protein_coding, processed_transcript	ENST00000593268	nonsynonymous SNV	exon5	c.A257G	p.E86G	TFRDVAIDFSQEEWECLDPAQRDFF	TFRDVAIDFSQEGWECLDPAQRDFF	5.0	1.0	unscreened	-	4037_19:44341251-44341251 A>G_TFRDVAIDFSQEGWECLDPAQRDFF
2:50850456-50850456 C>G	0.0	4037	LUNG	-	-	-	-	NRXN1	ENST00000406316,p.R377P|ENST00000401669,p.R377P|ENST00000406859,p.R377P|uc021vhh.1,p.R377P|NM_004801,p.R377P	retained_intron, protein_coding, processed_transcript	uc021vhh.1	nonsynonymous SNV	exon5	c.G1130C	p.R377P	NAWHDVKVTRNLRQHSGIGHAMVTI	NAWHDVKVTRNLPQHSGIGHAMVTI	2.0	1.0	unscreened	-	4037_2:50850456-50850456 C>G_NAWHDVKVTRNLPQHSGIGHAMVTI
19:42838222-42838222 T>G	0.0	4037	LUNG	-	-	-	-	MEGF8	NM_001410,p.F139V|uc002otm.5,p.F139V|uc002otl.4,p.F139V|ENST00000251268,p.F139V|ENST00000334370,p.F139V|NM_001271938,p.F139V	retained_intron, protein_coding	uc002otm.5	nonsynonymous SNV	exon3	c.T415G	p.F139V	NYNLLGFNASFRFSLCPGGCQSHGQ	NYNLLGFNASFRVSLCPGGCQSHGQ	6.0	2.0	unscreened	-	4037_19:42838222-42838222 T>G_NYNLLGFNASFRVSLCPGGCQSHGQ
19:16664542-16664542 T>G	1.0	4037	LUNG	-	-	-	-	SLC35E1	ENST00000595753,p.Y394S|NM_024881,p.Y394S|uc010xph.2,p.Y394S|ENST00000436553,p.Y328S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xph.2	nonsynonymous SNV	exon6	c.A1181C	p.Y394S	YGRNNILTDHFQYSRQSYPNSYSLN	YGRNNILTDHFQSSRQSYPNSYSLN	9.0	9.0	unscreened	-	4037_19:16664542-16664542 T>G_YGRNNILTDHFQSSRQSYPNSYSLN
10:70446279-70446279 G>A	1.0	4037	LUNG	-	-	-	1	TET1	ENST00000373644,p.R1740H|uc001jok.4,p.R1740H|NM_030625,p.R1740H	protein_coding	uc001jok.4	nonsynonymous SNV	exon11	c.G5219A	p.R1740H	KIKSGAIEVLAPRRKKRTCFTQPVP	KIKSGAIEVLAPHRKKRTCFTQPVP	3.0	9.0	unscreened	-	4037_10:70446279-70446279 G>A_KIKSGAIEVLAPHRKKRTCFTQPVP
20:46305823-46305823 C>G	0.0	4037	LUNG	-	-	-	-	SULF2	NM_018837,p.G417R|NM_198596,p.G417R|ENST00000484875,p.G417R|uc002xto.3,p.G417R|uc002xtr.3,p.G417R|NM_001161841,p.G417R|ENST00000361612,p.G417R|ENST00000359930,p.G417R|ENST00000467815,p.G417R|uc002xtq.3,p.G417R	retained_intron, protein_coding, processed_transcript	uc002xtr.3	nonsynonymous SNV	exon9	c.G1249C	p.G417R	MRVWRDSFLVERGKLLHKRDNDKVD	MRVWRDSFLVERRKLLHKRDNDKVD	8.0	2.0	unscreened	-	4037_20:46305823-46305823 C>G_MRVWRDSFLVERRKLLHKRDNDKVD
13:27847405-27847405 A>G	1.0	4037	LUNG	-	-	-	-	RASL11A	uc001urd.1,p.E168G|NM_206827,p.E168G|ENST00000241463,p.E168G	protein_coding, processed_transcript	uc001urd.1	nonsynonymous SNV	exon4	c.A503G	p.E168G	QVQTQDGIQLANELGSLFLEISTSE	QVQTQDGIQLANGLGSLFLEISTSE	5.0	8.0	unscreened	-	4037_13:27847405-27847405 A>G_QVQTQDGIQLANGLGSLFLEISTSE
19:42857784-42857784 G>A	1.0	4037	LUNG	-	-	-	-	MEGF8	uc002otm.5,p.A1240T|NM_001410,p.A1173T|NM_001271938,p.A1240T|ENST00000251268,p.A1240T|uc002otl.4,p.A1173T|ENST00000334370,p.A1173T	retained_intron, protein_coding	uc002otm.5	nonsynonymous SNV	exon21	c.G3718A	p.A1240T	SGLCFCQDHTEGAHCQLCSPGYYGD	SGLCFCQDHTEGTHCQLCSPGYYGD	6.0	10.0	unscreened	-	4037_19:42857784-42857784 G>A_SGLCFCQDHTEGTHCQLCSPGYYGD
11:129758639-129758639 T>G	1.0	4037	LUNG	-	-	-	-	NFRKB	ENST00000531755,p.S63R|ENST00000530278,p.S63R|ENST00000526884,p.S63R|uc001qfh.3,p.S86R|ENST00000529319,p.S63R|ENST00000524794,p.S76R|ENST00000446488,p.S63R|ENST00000532225,p.S63R|ENST00000524746,p.S63R|ENST00000304521,p.S63R|ENST00000526940,p.S63R|NM_001143835,p.S63R|uc010sbw.1,p.S63R|uc001qfg.3,p.S76R|NM_006165,p.S76R|uc001qfi.3,p.S63R	retained_intron, protein_coding, nonsense_mediated_decay	uc010sbw.1	nonsynonymous SNV	exon4	c.A187C	p.S63R	DVVSLSTWQEVLSDSQREHLQQFLP	DVVSLSTWQEVLRDSQREHLQQFLP	6.0	7.0	unscreened	-	4037_11:129758639-129758639 T>G_DVVSLSTWQEVLRDSQREHLQQFLP
3:10861276-10861276 T>C	1.0	4037	LUNG	-	-	-	-	SLC6A11	ENST00000254488,p.L128S|ENST00000454147,p.L128S|NM_014229,p.L128S|uc003bvz.3,p.L128S|uc003bvy.1,p.L128S	retained_intron, protein_coding	uc003bvz.3	nonsynonymous SNV	exon2	c.T383C	p.L128S	EGGITCWRKVCPLFEGIGYATQVIE	EGGITCWRKVCPSFEGIGYATQVIE	6.0	7.0	unscreened	-	4037_3:10861276-10861276 T>C_EGGITCWRKVCPSFEGIGYATQVIE
1:112045916-112045916 A>C	0.0	4037	LUNG	-	-	-	-	ADORA3	ENST00000241356,p.F21V|uc001ebf.3,p.F21V|uc001ebh.4,p.F21V|ENST00000369716,p.F21V|NM_000677,p.F21V|NM_020683,p.F21V	protein_coding, processed_transcript	uc001ebh.4	nonsynonymous SNV	exon1	c.T61G	p.F21V	SLANVTYITMEIFIGLCAIVGNVLV	SLANVTYITMEIVIGLCAIVGNVLV	6.0	3.0	unscreened	-	4037_1:112045916-112045916 A>C_SLANVTYITMEIVIGLCAIVGNVLV
19:746681-746681 A>C	1.0	4037	LUNG	-	-	-	-	PALM	ENST00000338448,p.N344T|NM_001040134,p.N300T|uc010xfu.1,p.N209T|uc002lpn.1,p.N300T|uc002lpm.1,p.N344T|NM_002579,p.N344T|ENST00000264560,p.N300T	retained_intron, protein_coding, processed_transcript	uc010xfu.1	nonsynonymous SNV	exon6	c.A626C	p.N209T	EDAAEPKEPAPPNGSAAEPPTEAAS	EDAAEPKEPAPPTGSAAEPPTEAAS	5.0	7.0	unscreened	-	4037_19:746681-746681 A>C_EDAAEPKEPAPPTGSAAEPPTEAAS
2:218939946-218939946 A>G	0.0	4037	LUNG	-	-	-	-	RUFY4	ENST00000344321,p.H244R|uc002vgw.3,p.H71R|uc010fvl.2,p.H244R|ENST00000374155,p.H264R|NM_198483,p.H244R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fvl.2	nonsynonymous SNV	exon9	c.A731G	p.H244R	QLAGLPRSQQQRHLPFFLEKKGESS	QLAGLPRSQQQRRLPFFLEKKGESS	3.0	1.0	unscreened	-	4037_2:218939946-218939946 A>G_QLAGLPRSQQQRRLPFFLEKKGESS
19:11547307-11547324 AGATGGCTCTGACGAGCC>-	0.0	4037	LUNG	-	-	-	-	PRKCSH	NM_001289103,p.59_65del|uc010xlz.2,p.59_65del|uc010dyb.3,p.59_65del|NM_001289104,p.59_65del|NM_001001329,p.59_65del|NM_001289102,p.59_65del|uc002mrv.1,p.59_65del|NM_002743,p.59_65del|uc002mru.3,p.59_65del|uc002mrt.3,p.59_65del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xlz.2	nonframeshift deletion	exon3	c.177_194del	p.59_65del	PFDQVNDDYCDCKDGSDEPGTAACP	PFDQVNDDYCDCKGTAACPNGSFHC	10.0	10.0	unscreened	-	4037_19:11547307-11547324 AGATGGCTCTGACGAGCC>-_PFDQVNDDYCDCKGTAACPNGSFHC
11:66031877-66031877 T>A	0.0	4037	LUNG	-	-	-	-	KLC2	uc010rox.1,p.L316H|ENST00000394067,p.L393H|NM_001134776,p.L393H|ENST00000417856,p.L393H|ENST00000394066,p.L316H|NM_022822,p.L393H|NM_001134774,p.L316H|uc010row.1,p.L393H|uc001ohd.2,p.L316H|NM_001134775,p.L393H|uc010rov.1,p.L393H|uc001ohc.2,p.L393H|ENST00000421552,p.L316H|ENST00000394065,p.L254H|uc001ohe.1,p.L254H|ENST00000316924,p.L393H|uc001ohb.2,p.L393H	retained_intron, protein_coding	uc010rox.1	nonsynonymous SNV	exon8	c.T947A	p.L316H	KYQDAETLYKEILTRAHEKEFGSVN	KYQDAETLYKEIHTRAHEKEFGSVN	7.0	5.0	unscreened	-	4037_11:66031877-66031877 T>A_KYQDAETLYKEIHTRAHEKEFGSVN
11:129722398-129722398 C>G	0.0	4037	LUNG	-	-	-	-	TMEM45B	ENST00000524567,p.H7Q|ENST00000281441,p.H7Q|uc001qff.1,p.H7Q|NM_138788,p.H7Q|uc001qfe.1,p.H7Q	retained_intron, protein_coding, processed_transcript	uc001qff.1	nonsynonymous SNV	exon2	c.C21G	p.H7Q	MANFKGHALPGSFFLIIGL	MANFKGQALPGSFFLIIGL	5.0	1.0	unscreened	-	4037_11:129722398-129722398 C>G_MANFKGQALPGSFFLIIGL
1:153279576-153279576 C>T	0.0	4037	LUNG	0.0023	-	ID=COSM1239813;OCCURENCE=1(oesophagus)	-	PGLYRP3	ENST00000290722,p.V75I|NM_052891,p.V75I|uc001fbn.1,p.V75I	protein_coding	uc001fbn.1	nonsynonymous SNV	exon2	c.G223A	p.V75I	CSQMLRGLQSHSVYTIGWCDVAYNF	CSQMLRGLQSHSIYTIGWCDVAYNF	1.0	2.0	unscreened	-	4037_1:153279576-153279576 C>T_CSQMLRGLQSHSIYTIGWCDVAYNF
15:77425582-77425582 T>C	0.0	4037	LUNG	-	-	-	-	PEAK1	ENST00000312493,p.E1281G|uc021sqy.1,p.E1281G|ENST00000560626,p.E1281G|NM_024776,p.E1281G	retained_intron, protein_coding, processed_transcript	uc021sqy.1	nonsynonymous SNV	exon7	c.A3842G	p.E1281G	QKPQRQALYRGLENREEVVGKIRSL	QKPQRQALYRGLGNREEVVGKIRSL	6.0	1.0	unscreened	-	4037_15:77425582-77425582 T>C_QKPQRQALYRGLGNREEVVGKIRSL
13:52548784-52548784 A>G	1.0	4037	LUNG	-	-	-	-	ATP7B	NM_000053,p.L191P|uc001vfy.2,p.L191P|uc001vfw.2,p.L191P|NM_001243182,p.L191P|NM_001005918,p.L191P|ENST00000542656,p.L159P|uc010adv.2,p.L191P|uc010tgt.1,p.L191P|ENST00000400370,p.L191P|uc010tgu.1,p.L191P|ENST00000418097,p.L191P|ENST00000400366,p.L191P|ENST00000242839,p.L191P|uc001vfx.2,p.L191P|uc010tgw.1,p.L159P|uc010tgv.1,p.L191P|ENST00000448424,p.L191P|ENST00000344297,p.L191P	protein_coding, processed_transcript	uc010tgw.1	nonsynonymous SNV	exon2	c.T476C	p.L159P	SNQEAVITYQPYLIQPEDLRDHVND	SNQEAVITYQPYPIQPEDLRDHVND	4.0	7.0	unscreened	-	4037_13:52548784-52548784 A>G_SNQEAVITYQPYPIQPEDLRDHVND
4:26741570-26741570 T>C	0.0	4037	LUNG	-	-	-	-	TBC1D19	ENST00000511789,p.L336P|NM_001292054,p.L336P|uc011bxu.2,p.L336P|ENST00000264866,p.L401P|NM_018317,p.L401P|uc010iew.3,p.L401P|uc003gsf.4,p.L401P	retained_intron, protein_coding, processed_transcript	uc011bxu.2	nonsynonymous SNV	exon14	c.T1007C	p.L336P	IFREMYVRFFFRLHSISSHPSGIVS	IFREMYVRFFFRPHSISSHPSGIVS	5.0	1.0	unscreened	-	4037_4:26741570-26741570 T>C_IFREMYVRFFFRPHSISSHPSGIVS
8:66516786-66516786 A>T	1.0	4037	LUNG	-	-	-	-	ARMC1	ENST00000276569,p.V231D|NM_001286702,p.V129D|uc003xvl.3,p.V231D|uc011leo.2,p.V129D|ENST00000458464,p.V129D|NM_018120,p.V231D	protein_coding, processed_transcript, nonsense_mediated_decay	uc011leo.2	nonsynonymous SNV	exon6	c.T386A	p.V129D	EMLVPFQDTPVEVEQNTELPDYLPE	EMLVPFQDTPVEDEQNTELPDYLPE	9.0	5.0	unscreened	-	4037_8:66516786-66516786 A>T_EMLVPFQDTPVEDEQNTELPDYLPE
3:114070629-114070629 T>G	0.0	4037	LUNG	-	-	-	-	ZBTB20	NM_015642,p.N26T|ENST00000357258,p.N26T|NM_001164344,p.N26T|uc003ebn.3,p.N26T|ENST00000474710,p.N99T|uc003ebi.3,p.N99T|NM_001164347,p.N26T|uc003ebm.3,p.N26T|uc003ebk.3,p.N26T|ENST00000464560,p.N26T|uc003ebl.3,p.N26T|ENST00000481632,p.N26T|uc010hqp.3,p.N26T|NM_001164346,p.N26T|ENST00000462705,p.N26T|uc003ebj.3,p.N26T|ENST00000470311,p.N26T|ENST00000393785,p.N26T|NM_001164343,p.N26T|NM_001164345,p.N26T|NM_001164342,p.N99T|ENST00000471418,p.N26T	protein_coding, processed_transcript	uc010hqp.3	nonsynonymous SNV	exon5	c.A77C	p.N26T	SNSVLETLNEQRNRGHFCDVTVRIH	SNSVLETLNEQRTRGHFCDVTVRIH	3.0	1.0	unscreened	-	4037_3:114070629-114070629 T>G_SNSVLETLNEQRTRGHFCDVTVRIH
1:207134151-207134151 T>A	0.0	4037	LUNG	-	-	-	-	FCAMR	uc001hfa.4,p.E357V|uc021pig.1,p.E272V|ENST00000324852,p.E357V|NM_001170631,p.E357V	protein_coding, processed_transcript, nonsense_mediated_decay	uc021pig.1	nonsynonymous SNV	exon3	c.A815T	p.E272V	REMTTTKADRPREDIEGVRIALDAA	REMTTTKADRPRVDIEGVRIALDAA	3.0	2.0	unscreened	-	4037_1:207134151-207134151 T>A_REMTTTKADRPRVDIEGVRIALDAA
20:44313593-44313593 T>G	0.0	4037	LUNG	-	-	-	-	WFDC10B	ENST00000330523,p.K33T|uc002xpb.3,p.K33T|NM_172006,p.K33T	protein_coding	uc002xpb.3	nonsynonymous SNV	exon4	c.A98C	p.K33T	GGYRDKMRMQRIKVCEKRPSIDLCI	GGYRDKMRMQRITVCEKRPSIDLCI	1.0	3.0	unscreened	-	4037_20:44313593-44313593 T>G_GGYRDKMRMQRITVCEKRPSIDLCI
9:2056748-2056748 G>A	1.0	4037	LUNG	-	-	ID=COSM1169163,COSM1169164;OCCURENCE=1(pancreas)	-	SMARCA2	NM_001289397,p.R417Q|NM_139045,p.R417Q|ENST00000382203,p.R417Q|ENST00000357248,p.R417Q|uc003zhc.3,p.R417Q|uc003zhd.3,p.R417Q|NM_001289396,p.R417Q|ENST00000382194,p.R417Q|NM_003070,p.R417Q|ENST00000450198,p.R417Q|ENST00000349721,p.R417Q|uc010mha.3,p.R408Q	protein_coding, processed_transcript	uc010mha.3	nonsynonymous SNV	exon7	c.G1223A	p.R408Q	TLETALNSKAYKRSKRQTLREARMT	TLETALNSKAYKQSKRQTLREARMT	10.0	9.0	-	-	4037_9:2056748-2056748 G>A_TLETALNSKAYKQSKRQTLREARMT
22:51018678-51018679 CT>-	1.0	4037	LUNG	-	-	-	-	CHKB	NM_005198,p.E253fs|ENST00000406938,p.E253fs|uc003bmt.2,p.E44fs|uc003bmu.3,p.E132fs|uc003bmv.3,p.E253fs	retained_intron, protein_coding, processed_transcript	uc003bmv.3	frameshift deletion	exon7	c.758_759del	p.E253fs	NDIQEGNILLLSEPENADSLMLVDF	NDIQEGNILLLSARKC	7.0	9.0	unscreened	-	4037_22:51018678-51018679 CT>-_NDIQEGNILLLSARKC
8:121509635-121509635 A>G	0.0	4037	LUNG	-	-	-	-	MTBP	ENST00000305949,p.R484G|uc003ypc.2,p.R484G|NM_022045,p.R484G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ypc.2	nonsynonymous SNV	exon14	c.A1450G	p.R484G	NVQVLALEECLKRRKLAKQPETVSV	NVQVLALEECLKGRKLAKQPETVSV	6.0	1.0	unscreened	-	4037_8:121509635-121509635 A>G_NVQVLALEECLKGRKLAKQPETVSV
2:24302366-24302366 A>C	0.0	4037	LUNG	-	-	-	-	TP53I3	uc010ykk.2,p.L166R|NM_147184,p.L255R|ENST00000238721,p.L255R|NM_004881,p.L255R|ENST00000335934,p.L255R|uc002rez.2,p.L255R|uc002rey.2,p.L255R	protein_coding, processed_transcript	uc010ykk.2	nonsynonymous SNV	exon4	c.T497G	p.L166R	GGDINGPLFSKLLFKRGSLITSLLR	GGDINGPLFSKLRFKRGSLITSLLR	5.0	6.0	unscreened	-	4037_2:24302366-24302366 A>C_GGDINGPLFSKLRFKRGSLITSLLR
22:20922868-20922868 A>G	1.0	4037	LUNG	-	-	-	-	MED15	NM_001293236,p.T297A|NM_001293237,p.T342A|NM_001293235,p.T342A|NM_001293234,p.T368A|NM_015889,p.T368A|ENST00000542773,p.T173A|uc002zsq.3,p.T368A|NM_001003891,p.T368A|uc002zss.3,p.T287A|uc002zsr.3,p.T342A|ENST00000263205,p.T368A|ENST00000541476,p.T342A|ENST00000406969,p.T342A|uc011ahu.2,p.T94A|uc010gso.3,p.T368A|uc011ahs.2,p.T342A|ENST00000425759,p.T257A|uc002zsp.3,p.T368A|ENST00000382974,p.T297A|ENST00000292733,p.T368A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ahu.2	nonsynonymous SNV	exon2	c.A280G	p.T94A	QPPVQPQVQQQQTAVQTAQAAQMVA	QPPVQPQVQQQQAAVQTAQAAQMVA	9.0	10.0	unscreened	-	4037_22:20922868-20922868 A>G_QPPVQPQVQQQQAAVQTAQAAQMVA
4:69817102-69817102 T>G	0.0	4037	LUNG	-	-	-	-	UGT2A3	ENST00000251566,p.E126A|uc003hef.2,p.E126A|NM_024743,p.E126A	protein_coding, nonsense_mediated_decay	uc003hef.2	nonsynonymous SNV	exon1	c.A377C	p.E126A	FVEIRGTLKMMCESFIYNQTLMKKL	FVEIRGTLKMMCASFIYNQTLMKKL	1.0	2.0	unscreened	-	4037_4:69817102-69817102 T>G_FVEIRGTLKMMCASFIYNQTLMKKL
2:50850456-50850456 C>G	0.0	4037	LUNG	-	-	-	-	NRXN1	uc002rxb.4,p.R57P|ENST00000405472,p.R377P|ENST00000402717,p.R377P	retained_intron, protein_coding, processed_transcript	uc002rxb.4	nonsynonymous SNV	exon1	c.G170C	p.R57P	NAWHDVKVTRNLRQVTISVDGILTT	NAWHDVKVTRNLPQVTISVDGILTT	2.0	1.0	unscreened	-	4037_2:50850456-50850456 C>G_NAWHDVKVTRNLPQVTISVDGILTT
12:93100657-93100657 C>A	0.0	4037	LUNG	-	-	-	-	C12orf74	NM_001178097,p.L84I|uc021rbt.1,p.L84I|ENST00000544406,p.L84I|uc001tch.2,p.L84I|ENST00000397833,p.L84I|NM_001037671,p.L84I|uc001tci.3,p.L84I	protein_coding	uc021rbt.1	nonsynonymous SNV	exon1	c.C250A	p.L84I	GSWGAPVGFPCYLSKSLPGSPKDSS	GSWGAPVGFPCYISKSLPGSPKDSS	1.0	2.0	unscreened	-	4037_12:93100657-93100657 C>A_GSWGAPVGFPCYISKSLPGSPKDSS
6:30882225-30882225 A>G	0.0	4037	LUNG	-	-	-	-	VARS2	NM_001167734,p.T13A|ENST00000541562,p.T13A|uc011dmz.2,p.T13A	retained_intron, protein_coding, processed_transcript	uc011dmz.2	nonsynonymous SNV	exon1	c.A37G	p.T13A	MGGKAWPRRAVGTAGGPCAEQISAP	MGGKAWPRRAVGAAGGPCAEQISAP	6.0	2.0	unscreened	-	4037_6:30882225-30882225 A>G_MGGKAWPRRAVGAAGGPCAEQISAP
9:140509168-140509168 A>C	1.0	4037	LUNG	-	-	-	-	ARRDC1	NM_152285,p.E318A|uc004cns.3,p.E318A|uc004cnp.2,p.E318A|uc004cnx.2,p.E193A|ENST00000371421,p.E318A	protein_coding, processed_transcript, nonsense_mediated_decay	uc004cnx.2	nonsynonymous SNV	exon3	c.A578C	p.E193A	LVVPSAPPQEEAEAEAAAGGPHFLD	LVVPSAPPQEEAAAEAAAGGPHFLD	10.0	9.0	-	-	4037_9:140509168-140509168 A>C_LVVPSAPPQEEAAAEAAAGGPHFLD
5:138657607-138657608 AA>-	1.0	4037	LUNG	-	-	-	-	MATR3	NM_001194954,p.T541fs|uc003lec.3,p.T218fs|uc003ldt.3,p.T203fs|uc011czb.2,p.T253fs|ENST00000502499,p.T203fs|NM_018834,p.T541fs|ENST00000504203,p.T203fs|uc003ldz.3,p.T541fs|uc003ldx.3,p.T541fs|uc003ldy.3,p.T218fs|ENST00000509990,p.T541fs|ENST00000394805,p.T541fs|uc003ldw.3,p.T541fs|NM_199189,p.T541fs|uc003ldu.3,p.T541fs|NM_001194956,p.T253fs|NM_001194955,p.T541fs|ENST00000361059,p.T541fs|ENST00000510056,p.T541fs|uc010jfb.3,p.T541fs|uc003leb.3,p.T203fs|ENST00000394800,p.T541fs|ENST00000502929,p.T541fs|ENST00000503811,p.T253fs|NM_001282278,p.T203fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011czb.2	frameshift deletion	exon9	c.759_760del	p.T253fs	MRMKSQAFIEMETREDAMAMVDHCL	MRMKSQAFIEMETRRCNGNG	10.0	9.0	unscreened	-	4037_5:138657607-138657608 AA>-_MRMKSQAFIEMETRRCNGNG
2:50850456-50850456 C>G	0.0	4037	LUNG	-	-	-	-	NRXN1	ENST00000404971,p.R410P|NM_001135659,p.R410P|uc021vhg.1,p.R410P	retained_intron, protein_coding, processed_transcript	uc021vhg.1	nonsynonymous SNV	exon6	c.G1229C	p.R410P	NAWHDVKVTRNLRQHSGIGHAMVNK	NAWHDVKVTRNLPQHSGIGHAMVNK	2.0	1.0	unscreened	-	4037_2:50850456-50850456 C>G_NAWHDVKVTRNLPQHSGIGHAMVNK
7:18687579-18687579 T>G	0.0	4037	LUNG	-	-	-	-	HDAC9	ENST00000456174,p.L372V|uc003suf.2,p.L431V|uc011jyd.2,p.L400V|NM_178425,p.L403V|ENST00000432645,p.L400V|NM_178423,p.L400V|uc003sud.2,p.L400V|NM_001204146,p.L359V|ENST00000406451,p.L400V|ENST00000428307,p.L356V|NM_001204144,p.L398V|NM_014707,p.L400V|uc011jye.2,p.L372V|ENST00000401921,p.L359V|uc003suj.3,p.L359V|uc003sua.1,p.L378V|ENST00000406072,p.L387V|ENST00000405010,p.L400V|uc010kud.2,p.L403V|uc003sui.3,p.L403V|uc011jyf.2,p.L323V|uc011jya.2,p.L398V|NM_001204148,p.L372V|uc003suh.3,p.L400V|NM_001204147,p.L323V|ENST00000524023,p.L323V|ENST00000441542,p.L403V|uc011jyc.2,p.L359V|NM_058176,p.L400V|uc010kue.1,p.L143V|NM_001204145,p.L356V|uc003sue.3,p.L400V|ENST00000417496,p.L398V|uc011jyb.2,p.L356V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011jyf.2	nonsynonymous SNV	exon8	c.T967G	p.L323V	PNSSHQALLQHLLLKEQMRQQKLLV	PNSSHQALLQHLVLKEQMRQQKLLV	4.0	7.0	unscreened	-	4037_7:18687579-18687579 T>G_PNSSHQALLQHLVLKEQMRQQKLLV
5:131925339-131925339 A>G	1.0	4037	LUNG	-	-	-	-	RAD50	uc003kxh.3,p.K282R|uc003kxi.3,p.K421R|ENST00000423956,p.K421R|ENST00000453394,p.K421R|ENST00000378823,p.K282R|ENST00000265335,p.K421R|NM_005732,p.K421R	protein_coding, processed_transcript, nonsense_mediated_decay	uc003kxi.3	nonsynonymous SNV	exon9	c.A1262G	p.K421R	KTANQLMNDFAEKETLKQKQIDEIR	KTANQLMNDFAERETLKQKQIDEIR	7.0	7.0	-	-	4037_5:131925339-131925339 A>G_KTANQLMNDFAERETLKQKQIDEIR
16:709096-709096 T>C	0.0	4037	LUNG	-	-	-	-	WDR90	NM_145294,p.F1008L|ENST00000549091,p.F1008L|ENST00000293879,p.F1008L|uc002cim.1,p.F182L|uc002cii.1,p.F1008L|ENST00000552728,p.F313L|uc002cik.1,p.F535L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002cim.1	nonsynonymous SNV	exon5	c.T544C	p.F182L	WDVLAPTESDQSFPGAPPACKTGPG	WDVLAPTESDQSLPGAPPACKTGPG	6.0	7.0	unscreened	-	4037_16:709096-709096 T>C_WDVLAPTESDQSLPGAPPACKTGPG
5:40999877-40999877 T>G	0.0	4037	LUNG	-	-	-	-	MROH2B	uc003jmj.4,p.K1496T|ENST00000399564,p.K1496T|uc003jmi.4,p.K1051T|ENST00000506092,p.K1051T|NM_173489,p.K1496T	retained_intron, protein_coding	uc003jmj.4	nonsynonymous SNV	exon40	c.A4487C	p.K1496T	RDFYRQFCVKLAKKNQEILWILHTH	RDFYRQFCVKLATKNQEILWILHTH	1.0	5.0	unscreened	-	4037_5:40999877-40999877 T>G_RDFYRQFCVKLATKNQEILWILHTH
2:85049209-85049209 T>G	0.0	4037	LUNG	-	-	-	-	TRABD2A	ENST00000409520,p.Q450H|NM_001080824,p.Q401H|uc010ysl.3,p.Q450H|uc002sou.5,p.Q401H|NM_001277053,p.Q450H|ENST00000335459,p.Q401H	retained_intron, protein_coding, processed_transcript	uc010ysl.3	nonsynonymous SNV	exon7	c.A1350C	p.Q450H	LWVRLEESDIVPQLQVPVLDRHIST	LWVRLEESDIVPHLQVPVLDRHIST	3.0	3.0	unscreened	-	4037_2:85049209-85049209 T>G_LWVRLEESDIVPHLQVPVLDRHIST
1:248616597-248616597 T>A	0.0	4037	LUNG	-	-	-	-	OR2T2	ENST00000342927,p.F167I|uc001iek.1,p.F167I|NM_001004136,p.F167I	protein_coding	uc001iek.1	nonsynonymous SNV	exon1	c.T499A	p.F167I	LDGFMLTPVTMSFPFCRSREINHFF	LDGFMLTPVTMSIPFCRSREINHFF	1.0	8.0	unscreened	-	4037_1:248616597-248616597 T>A_LDGFMLTPVTMSIPFCRSREINHFF
11:117242132-117242132 C>T	1.0	4037	LUNG	-	-	-	-	CEP164	uc010rxk.1,p.P342S|NM_001271933,p.P368S|ENST00000278935,p.P368S|uc001prb.4,p.P368S|uc001prc.3,p.P368S|NM_014956,p.P368S	retained_intron, protein_coding, processed_transcript	uc010rxk.1	nonsynonymous SNV	exon7	c.C1024T	p.P342S	EEGSRREEAAKEPKKKASALEEGSS	EEGSRREEAAKESKKKASALEEGSS	8.0	8.0	unscreened	-	4037_11:117242132-117242132 C>T_EEGSRREEAAKESKKKASALEEGSS
5:101592886-101592886 T>G	0.0	4037	LUNG	-	-	ID=COSM1266116;OCCURENCE=1(oesophagus)	-	SLCO4C1	NM_180991,p.S468R|ENST00000310954,p.S468R|uc003knm.3,p.S468R	protein_coding	uc003knm.3	nonsynonymous SNV	exon8	c.A1402C	p.S468R	FALFTSGVALTLSFVFMYAKCENEP	FALFTSGVALTLRFVFMYAKCENEP	1.0	10.0	unscreened	-	4037_5:101592886-101592886 T>G_FALFTSGVALTLRFVFMYAKCENEP
6:90365680-90365680 T>C	1.0	4037	LUNG	-	-	-	-	MDN1	uc003pnn.1,p.K5098R|NM_014611,p.K5098R|ENST00000428876,p.K5098R|ENST00000369393,p.K5098R	protein_coding, processed_transcript, nonsense_mediated_decay	uc003pnn.1	nonsynonymous SNV	exon92	c.A15293G	p.K5098R	SQKHTRKNTQSFKRKPGQADNERSM	SQKHTRKNTQSFRRKPGQADNERSM	6.0	6.0	unscreened	-	4037_6:90365680-90365680 T>C_SQKHTRKNTQSFRRKPGQADNERSM
9:139326387-139326387 A>C	1.0	4037	LUNG	-	-	-	-	INPP5E	NM_019892,p.F480V|uc004cho.3,p.F480V|uc010nbm.3,p.F479V|ENST00000371712,p.F480V	protein_coding	uc010nbm.3	nonsynonymous SNV	exon7	c.T1435G	p.F479V	RFDEVFWFGDFNFRLSGGRTVVDAL	RFDEVFWFGDFNVRLSGGRTVVDAL	5.0	9.0	unscreened	-	4037_9:139326387-139326387 A>C_RFDEVFWFGDFNVRLSGGRTVVDAL
X:74698779-74698779 T>C	0.0	4037	LUNG	-	-	-	-	ZDHHC15	ENST00000541184,p.T60A|ENST00000373361,p.T69A|ENST00000373367,p.T69A|NM_144969,p.T69A|NM_001146257,p.T60A|uc004ecg.3,p.T69A|uc004eci.2,p.T60A|NM_001146256,p.T60A|uc004ech.3,p.T60A	protein_coding, processed_transcript	uc004eci.2	nonsynonymous SNV	exon2	c.A178G	p.T60A	YLILYHAIFVFFTWTYWKSIFTLPQ	YLILYHAIFVFFAWTYWKSIFTLPQ	1.0	5.0	unscreened	-	4037_X:74698779-74698779 T>C_YLILYHAIFVFFAWTYWKSIFTLPQ
2:74594956-74594956 T>A	1.0	4037	LUNG	-	-	-	1	DCTN1	NM_001135040,p.K664I|NM_001190837,p.K677I|uc002skw.2,p.K677I|NM_001190836,p.K647I|ENST00000409438,p.K550I|uc002sku.3,p.K550I|ENST00000434055,p.K647I|ENST00000409567,p.K664I|uc002skv.3,p.K550I|uc010ffd.3,p.K664I|NM_023019,p.K550I|ENST00000409240,p.K647I|uc002skx.3,p.K684I|ENST00000394003,p.K677I|ENST00000361874,p.K684I|uc002sky.3,p.K647I|NM_004082,p.K684I|ENST00000409868,p.K667I|NM_001135041,p.K550I|ENST00000407639,p.K550I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ffd.3	nonsynonymous SNV	exon15	c.A1991T	p.K664I	HALSQCSVDVYKKVGSLYPEMSAHE	HALSQCSVDVYKIVGSLYPEMSAHE	9.0	4.0	unscreened	-	4037_2:74594956-74594956 T>A_HALSQCSVDVYKIVGSLYPEMSAHE
4:39436044-39436044 A>C	0.0	4037	LUNG	-	-	-	-	KLB	uc003gua.3,p.K347T|NM_175737,p.K347T|uc011byj.2,p.K347T|ENST00000257408,p.K347T	protein_coding	uc011byj.2	nonsynonymous SNV	exon2	c.A1040C	p.K347T	HGDGDYPEGMRKKLFSVLPIFSEAE	HGDGDYPEGMRKTLFSVLPIFSEAE	2.0	4.0	unscreened	-	4037_4:39436044-39436044 A>C_HGDGDYPEGMRKTLFSVLPIFSEAE
7:80293776-80293776 A>C	0.0	4037	LUNG	-	-	-	-	CD36	NM_001289911,p.S146R|NM_001001548,p.S222R|uc003uhg.4,p.S222R|uc003uhc.3,p.S222R|ENST00000544133,p.S222R|uc003uhf.4,p.S222R|ENST00000394788,p.S222R|uc011kgv.2,p.S146R|uc003uhd.4,p.S222R|ENST00000538969,p.S162R|uc003uhh.4,p.S222R|ENST00000534394,p.S146R|NM_001001547,p.S222R|NM_001127444,p.S222R|uc022agv.1,p.S162R|ENST00000309881,p.S222R|ENST00000433696,p.S222R|uc022agu.1,p.S222R|NM_000072,p.S222R|ENST00000419819,p.S222R|ENST00000435819,p.S222R|NM_001289908,p.S222R|NM_001127443,p.S222R|ENST00000432207,p.S222R|NM_001289909,p.S162R|uc003uhe.4,p.S222R|ENST00000447544,p.S222R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022agv.1	nonsynonymous SNV	exon4	c.A484C	p.S162R	GVYKVFNGKDNISKVAIIDTYKGKR	GVYKVFNGKDNIRKVAIIDTYKGKR	6.0	4.0	unscreened	-	4037_7:80293776-80293776 A>C_GVYKVFNGKDNIRKVAIIDTYKGKR
19:33291580-33291580 A>C	0.0	4037	LUNG	-	-	-	-	TDRD12,SLC7A9	ENST00000444215,p.T661P|uc002ntq.2,p.T661P	protein_coding, nonsense_mediated_decay	uc002ntq.2	nonsynonymous SNV	exon18	c.A1981C	p.T661P	QQVVHLCLECEKTSSLLQALDFIPS	QQVVHLCLECEKPSSLLQALDFIPS	1.0	1.0	unscreened	-	4037_19:33291580-33291580 A>C_QQVVHLCLECEKPSSLLQALDFIPS
1:200730176-200730176 ->G	1.0	4037	LUNG	-	-	-	-	CAMSAP2	NM_001297707,p.Q117fs|uc001gvl.3,p.Q117fs|uc001gvk.3,p.Q117fs|ENST00000236925,p.Q117fs|ENST00000358823,p.Q117fs|NM_203459,p.Q117fs|NM_001297708,p.Q117fs|uc001gvm.3,p.Q117fs|ENST00000413307,p.Q117fs	retained_intron, protein_coding, nonsense_mediated_decay	uc001gvm.3	frameshift insertion	exon2	c.349_350insG	p.Q117fs	QALAQKGLYVTDQEKLVTERDLHKK	QALAQKGLYVTDRGKIGN	7.0	2.0	unscreened	-	4037_1:200730176-200730176 ->G_QALAQKGLYVTDRGKIGN
15:40558272-40558272 T>G	0.0	4037	LUNG	-	-	-	-	PAK6	ENST00000441369,p.L145R|ENST00000560669,p.L145R|uc001zlb.3,p.L145R|NM_001276717,p.L145R|NM_001276718,p.L145R|ENST00000560346,p.L145R|uc001zky.4,p.L145R|NM_001128628,p.L145R|uc010bbm.3,p.L145R|NM_001128629,p.L145R|uc010bbl.3,p.L145R|NM_020168,p.L145R|uc010bbn.4,p.L145R|ENST00000455577,p.L145R|ENST00000260404,p.L145R|ENST00000453867,p.L145R|ENST00000542403,p.L145R	retained_intron, protein_coding, processed_transcript	uc010bbn.4	nonsynonymous SNV	exon5	c.T434G	p.L145R	PQSERTDPHGLYLSCNGGTPAGHKQ	PQSERTDPHGLYRSCNGGTPAGHKQ	5.0	7.0	unscreened	-	4037_15:40558272-40558272 T>G_PQSERTDPHGLYRSCNGGTPAGHKQ
2:85921588-85921588 A>C	0.0	4037	LUNG	-	-	-	-	GNLY	ENST00000524600,p.N16T|uc010ysx.2,p.N16T	retained_intron, protein_coding, processed_transcript	uc010ysx.2	nonsynonymous SNV	exon1	c.A47C	p.N16T	WALLLLAAMLLGNPGLEVSVSPKGK	WALLLLAAMLLGTPGLEVSVSPKGK	6.0	7.0	unscreened	-	4037_2:85921588-85921588 A>C_WALLLLAAMLLGTPGLEVSVSPKGK
1:11884558-11884558 A>T	1.0	4037	LUNG	-	-	-	-	CLCN6	NM_001256959,p.K177M|uc010oau.3,p.K177M|NM_001286,p.K199M|uc001ate.5,p.K199M	protein_coding, processed_transcript	uc010oau.3	nonsynonymous SNV	exon7	c.A530T	p.K177M	VLFSVAGGLFVGKEGPMIHSGSVVG	VLFSVAGGLFVGMEGPMIHSGSVVG	6.0	9.0	unscreened	-	4037_1:11884558-11884558 A>T_VLFSVAGGLFVGMEGPMIHSGSVVG
14:35871245-35871246 AC>-	0.0	4037	LUNG	-	-	-	-	NFKBIA	ENST00000557389,p.V219fs|uc001wtf.4,p.V309fs|ENST00000557140,p.V266fs|ENST00000216797,p.V309fs|NM_020529,p.V309fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wtf.4	frameshift deletion	exon6	c.927_928del	p.V309fs	EFTEDELPYDDCVFGGQRLTL	EFTEDELPYDDCVWRPASDVM	10.0	1.0	unscreened	-	4037_14:35871245-35871246 AC>-_EFTEDELPYDDCVWRPASDVM
2:170092483-170092483 T>G	0.0	4037	LUNG	-	-	-	-	LRP2	ENST00000263816,p.K1596T|NM_004525,p.K1596T|uc002ues.3,p.K1596T	retained_intron, protein_coding, processed_transcript	uc002ues.3	nonsynonymous SNV	exon29	c.A4787C	p.K1596T	MDGSMRTVIVQDKIFWPCGLTIDYP	MDGSMRTVIVQDTIFWPCGLTIDYP	1.0	3.0	unscreened	-	4037_2:170092483-170092483 T>G_MDGSMRTVIVQDTIFWPCGLTIDYP
11:130298118-130298120 GCA>-	0.0	4037	LUNG	-	-	-	-	ADAMTS8	uc001qgg.4,p.21_22del|NM_007037,p.21_22del|ENST00000257359,p.21_22del	retained_intron, protein_coding	uc001qgg.4	nonframeshift deletion	exon1	c.62_64del	p.21_22del	RWPPLLLLLLLLLPLARGAPARPAA	RWPPLLLLLLLLPLARGAPARPAAG	1.0	10.0	unscreened	-	4037_11:130298118-130298120 GCA>-_RWPPLLLLLLLLPLARGAPARPAAG
3:141163232-141163232 T>G	1.0	4037	LUNG	-	-	-	-	ZBTB38	uc010huo.3,p.F668V|ENST00000514251,p.F668V|uc010hun.3,p.F665V|uc003etw.3,p.F668V|NM_001080412,p.F668V|ENST00000509883,p.F668V|uc003ety.3,p.F668V|ENST00000441582,p.F668V|uc010hup.3,p.F669V|ENST00000321464,p.F669V|uc021xes.1,p.F668V	retained_intron, protein_coding, processed_transcript	uc021xes.1	nonsynonymous SNV	exon1	c.T2002G	p.F668V	GEEALKMDLDNNFYSTEVSVSSTEN	GEEALKMDLDNNVYSTEVSVSSTEN	9.0	7.0	unscreened	-	4037_3:141163232-141163232 T>G_GEEALKMDLDNNVYSTEVSVSSTEN
19:33372818-33372818 C>A	0.0	4037	LUNG	-	-	-	2	CEP89	uc002ntx.3,p.E442D|NM_032816,p.E689D|uc002nty.3,p.E689D|ENST00000305768,p.E689D	retained_intron, protein_coding, nonsense_mediated_decay	uc002nty.3	nonsynonymous SNV	exon18	c.G2067T	p.E689D	EDFAGKTAQYRQEMRHLHQVLKDKQ	EDFAGKTAQYRQDMRHLHQVLKDKQ	8.0	8.0	unscreened	-	4037_19:33372818-33372818 C>A_EDFAGKTAQYRQDMRHLHQVLKDKQ
5:37049309-37049309 T>G	0.0	4037	LUNG	-	-	-	-	NIPBL	ENST00000282516,p.L2287R|uc003jkk.4,p.L2287R|NM_015384,p.L2287R|ENST00000448238,p.L2287R|uc003jkl.4,p.L2287R|NM_133433,p.L2287R	retained_intron, protein_coding, processed_transcript	uc003jkl.4	nonsynonymous SNV	exon40	c.T6860G	p.L2287R	SSSIMQLYLKQVLEAFFHTQSSVRH	SSSIMQLYLKQVREAFFHTQSSVRH	9.0	5.0	unscreened	-	4037_5:37049309-37049309 T>G_SSSIMQLYLKQVREAFFHTQSSVRH
3:58395839-58395839 A>G	1.0	4037	LUNG	-	-	-	-	PXK	ENST00000383715,p.E456G|ENST00000302779,p.E456G|NM_001289099,p.E390G|uc003dkd.1,p.E336G|NM_001289095,p.E456G|uc011bfe.1,p.E440G|ENST00000356151,p.E473G|NM_001289096,p.E440G|ENST00000479241,p.E456G|ENST00000383716,p.E440G|uc010hnk.1,p.E247G|ENST00000484288,p.E473G|uc010hnj.1,p.E440G|uc003djx.1,p.E473G|ENST00000459676,p.E166G|uc003dkc.1,p.E456G|NM_017771,p.E473G|uc003dka.1,p.E473G|ENST00000536660,p.E336G|ENST00000463280,p.E440G|uc003dkb.1,p.E390G|NM_001289100,p.E440G|uc003djz.1,p.E473G|NM_001289098,p.E473G|NM_001289101,p.E336G	retained_intron, protein_coding, nonsense_mediated_decay	uc011bfe.1	nonsynonymous SNV	exon14	c.A1319G	p.E440G	ILARKKSKRSALENSEEHSAKYSNS	ILARKKSKRSALGNSEEHSAKYSNS	6.0	9.0	unscreened	-	4037_3:58395839-58395839 A>G_ILARKKSKRSALGNSEEHSAKYSNS
4:144618224-144618224 T>G	0.0	4037	LUNG	-	-	-	-	FREM3	uc021xsj.1,p.K1202T|NM_001168235,p.K1202T|ENST00000329798,p.K1202T	protein_coding, processed_transcript	uc021xsj.1	nonsynonymous SNV	exon1	c.A3605C	p.K1202T	NDEQPKLFAHEFKVLEGMSLVIDTQ	NDEQPKLFAHEFTVLEGMSLVIDTQ	1.0	8.0	unscreened	-	4037_4:144618224-144618224 T>G_NDEQPKLFAHEFTVLEGMSLVIDTQ
15:77228013-77228013 T>G	1.0	4037	LUNG	-	-	-	-	RCN2	NM_001271837,p.F133V|uc002bcd.3,p.F133V|ENST00000394885,p.F133V|ENST00000320963,p.F133V|NM_002902,p.F133V|uc031qsx.1,p.F133V	retained_intron, protein_coding, nonsense_mediated_decay	uc031qsx.1	nonsynonymous SNV	exon3	c.T397G	p.F133V	EYNIQMYDRVIDFDENTALDDAEEE	EYNIQMYDRVIDVDENTALDDAEEE	9.0	4.0	unscreened	-	4037_15:77228013-77228013 T>G_EYNIQMYDRVIDVDENTALDDAEEE
20:44313593-44313593 T>G	0.0	4037	LUNG	-	-	-	-	WFDC10B	uc002xpc.3,p.K49T|ENST00000335769,p.K49T|NM_172131,p.K49T	protein_coding	uc002xpc.3	nonsynonymous SNV	exon3	c.A146C	p.K49T	LSRNLPALYTGIKVCEKRPSIDLCI	LSRNLPALYTGITVCEKRPSIDLCI	1.0	3.0	unscreened	-	4037_20:44313593-44313593 T>G_LSRNLPALYTGITVCEKRPSIDLCI
19:31767821-31767821 T>A	0.0	4037	LUNG	-	-	-	-	TSHZ3	ENST00000240587,p.T960S|uc002nsy.4,p.T960S|NM_020856,p.T960S	protein_coding, processed_transcript	uc002nsy.4	nonsynonymous SNV	exon2	c.A2878T	p.T960S	HWLANVKYQLRRTGGTKFLKNLDTG	HWLANVKYQLRRSGGTKFLKNLDTG	5.0	2.0	unscreened	-	4037_19:31767821-31767821 T>A_HWLANVKYQLRRSGGTKFLKNLDTG
17:76228154-76228154 T>C	0.0	4037	LUNG	-	-	-	-	TMEM235	uc002jvk.3,p.L17P|uc021ued.1,p.L17P|uc010dhm.2,p.L17P|ENST00000550981,p.L17P|NM_001204210,p.L17P|ENST00000551068,p.L17P|ENST00000374946,p.L17P|NM_001204212,p.L17P|NM_001204211,p.L17P|ENST00000586400,p.L17P	protein_coding	uc021ued.1	nonsynonymous SNV	exon2	c.T50C	p.L17P	GALLLAAALGALLSFALLAAAVASD	GALLLAAALGALPSFALLAAAVASD	1.0	10.0	unscreened	-	4037_17:76228154-76228154 T>C_GALLLAAALGALPSFALLAAAVASD
7:16502322-16502322 T>C	0.0	4037	LUNG	-	-	-	-	SOSTDC1	NM_015464,p.T158A|uc003stg.3,p.T158A|ENST00000307068,p.T158A|uc003sth.3,p.T182A|ENST00000396652,p.T182A	protein_coding	uc003sth.3	nonsynonymous SNV	exon5	c.A544G	p.T182A	QCQDGSTRTYKITVVTACKCKRYTR	QCQDGSTRTYKIAVVTACKCKRYTR	3.0	2.0	unscreened	-	4037_7:16502322-16502322 T>C_QCQDGSTRTYKIAVVTACKCKRYTR
8:142459712-142459712 T>G	0.0	4037	LUNG	-	-	-	-	MROH5	uc003ywi.2,p.K872T	protein_coding, polymorphic_pseudogene, nonsense_mediated_decay	uc003ywi.2	nonsynonymous SNV	exon20	c.A2615C	p.K872T	TGASDSSPCPKEKTYLRLLAAMNML	TGASDSSPCPKETTYLRLLAAMNML	1.0	7.0	unscreened	-	4037_8:142459712-142459712 T>G_TGASDSSPCPKETTYLRLLAAMNML
17:10318833-10318833 C>G	0.0	4037	LUNG	-	-	-	-	MYH8	NM_002472,p.A202P|uc002gmm.2,p.A202P|ENST00000403437,p.A202P	protein_coding	uc002gmm.2	nonsynonymous SNV	exon7	c.G604C	p.A202P	NTKRVIQYFATIAVTGEKKKDESGK	NTKRVIQYFATIPVTGEKKKDESGK	1.0	9.0	unscreened	-	4037_17:10318833-10318833 C>G_NTKRVIQYFATIPVTGEKKKDESGK
3:141011912-141011912 A>C	0.0	4037	LUNG	-	-	-	-	PXYLP1	NM_001282728,p.Q398H|uc003etu.3,p.Q436H|ENST00000502783,p.Q398H|NM_152282,p.Q436H|ENST00000504264,p.Q419H|ENST00000286353,p.Q436H|uc011bna.2,p.Q398H|uc003etv.3,p.Q436H|uc011bnb.2,p.Q419H|ENST00000393010,p.Q436H|ENST00000508812,p.Q427H|NM_001037172,p.Q436H|ENST00000393007,p.Q420H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bnb.2	nonsynonymous SNV	exon5	c.A1257C	p.Q419H	NGVDVTFHTSFCQDHHKRSPKPMCP	NGVDVTFHTSFCHDHHKRSPKPMCP	6.0	4.0	unscreened	-	4037_3:141011912-141011912 A>C_NGVDVTFHTSFCHDHHKRSPKPMCP
3:113004227-113004227 A>G	0.0	4037	LUNG	-	-	-	-	BOC	NM_001301861,p.K992R|uc003dzz.3,p.K992R|uc003eab.3,p.K692R|uc003eac.3,p.K306R|ENST00000355385,p.K991R|ENST00000495514,p.K991R|ENST00000273395,p.K992R|NM_033254,p.K991R|uc003dzx.3,p.K991R|uc003dzy.3,p.K991R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003eac.3	nonsynonymous SNV	exon7	c.A917G	p.K306R	YDPQSHQITRGPKSSPDEGSFLYTL	YDPQSHQITRGPRSSPDEGSFLYTL	4.0	1.0	unscreened	-	4037_3:113004227-113004227 A>G_YDPQSHQITRGPRSSPDEGSFLYTL
11:6129675-6129675 T>C	0.0	4037	LUNG	-	-	-	-	OR56B4	uc010qzx.2,p.S223P|ENST00000316529,p.S223P|NM_001005181,p.S223P	protein_coding	uc010qzx.2	nonsynonymous SNV	exon1	c.T667C	p.S223P	VLVGSDMALVFSSYAVILHSVLRLN	VLVGSDMALVFSPYAVILHSVLRLN	1.0	9.0	unscreened	-	4037_11:6129675-6129675 T>C_VLVGSDMALVFSPYAVILHSVLRLN
16:16173318-16173318 G>A	0.0	4037	LUNG	-	-	-	-	ABCC1	ENST00000351154,p.G700R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000351154	nonsynonymous SNV	exon16	c.G2098A	p.G700R	LSALLAEMDKVEGHVAIKGVNLSGG	LSALLAEMDKVERHVAIKGVNLSGG	7.0	3.0	unscreened	-	4037_16:16173318-16173318 G>A_LSALLAEMDKVERHVAIKGVNLSGG
20:3683907-3683907 A>C	0.0	4037	LUNG	-	-	-	-	SIGLEC1	uc002wiz.4,p.F389V|ENST00000202578,p.F389V|NM_023068,p.F389V|uc002wjc.3,p.F300V|uc002wja.3,p.F389V|ENST00000344754,p.F389V	protein_coding	uc002wjc.3	nonsynonymous SNV	exon4	c.T898G	p.F300V	LHLATRADTGFYFCEVQNVHGSERS	LHLATRADTGFYVCEVQNVHGSERS	6.0	2.0	unscreened	-	4037_20:3683907-3683907 A>C_LHLATRADTGFYVCEVQNVHGSERS
6:28540361-28540361 A>G	0.0	4037	LUNG	-	-	-	-	ZBED9	uc003nlo.3,p.L1102P|NM_052923,p.L1102P|ENST00000452236,p.L1102P	protein_coding, processed_transcript	uc003nlo.3	nonsynonymous SNV	exon4	c.T3305C	p.L1102P	SQLFKDVNWTARLAYLSDIFSIFND	SQLFKDVNWTARPAYLSDIFSIFND	1.0	8.0	unscreened	-	4037_6:28540361-28540361 A>G_SQLFKDVNWTARPAYLSDIFSIFND
14:76246019-76246020 AT>-	1.0	4037	LUNG	-	-	-	-	TTLL5	ENST00000298832,p.N830fs|ENST00000554510,p.N339fs|uc010ask.2,p.N844fs|ENST00000557636,p.N844fs|uc001xrx.3,p.N830fs|ENST00000556893,p.N381fs|uc001xrz.3,p.N405fs|NM_015072,p.N830fs	retained_intron, protein_coding, processed_transcript	uc010ask.2	frameshift deletion	exon25	c.2531_2532del	p.N844fs	LGTHSKISKNNNNYSDSGAKGDHPE	LGTHSKISKNNNIF	7.0	10.0	unscreened	-	4037_14:76246019-76246020 AT>-_LGTHSKISKNNNIF
19:37677662-37677662 A>C	1.0	4037	LUNG	0.0027	-	-	-	ZNF585B	uc002ofq.3,p.I259M|ENST00000531805,p.I204M|NM_152279,p.I259M|uc002ofr.1,p.I73M|ENST00000532828,p.I259M	protein_coding, processed_transcript, nonsense_mediated_decay	uc002ofr.1	nonsynonymous SNV	exon6	c.T219G	p.I73M	CGKAFTQKSTLKIHQKIHTGERSYI	CGKAFTQKSTLKMHQKIHTGERSYI	5.0	1.0	unscreened	-	4037_19:37677662-37677662 A>C_CGKAFTQKSTLKMHQKIHTGERSYI
19:47933527-47933527 A>C	1.0	4037	LUNG	-	-	-	-	SLC8A2	uc010xyq.2,p.F618C|ENST00000539381,p.F325C|NM_015063,p.F862C|ENST00000542837,p.F618C|ENST00000236877,p.F862C|uc002pgx.3,p.F862C|uc010xyr.2,p.F325C	retained_intron, protein_coding, processed_transcript	uc010xyr.2	nonsynonymous SNV	exon8	c.T974G	p.F325C	VRTGTLAFSVTLFTVFAFVGIAVLL	VRTGTLAFSVTLCTVFAFVGIAVLL	2.0	10.0	unscreened	-	4037_19:47933527-47933527 A>C_VRTGTLAFSVTLCTVFAFVGIAVLL
14:45433493-45433494 CT>-	0.0	4037	LUNG	-	-	-	-	FAM179B	ENST00000361462,p.H623fs|ENST00000382233,p.H623fs|uc001wvw.3,p.H623fs|uc001wvv.3,p.H623fs|uc001wvu.3,p.H623fs|ENST00000361577,p.H623fs|uc010anb.1,p.H623fs|NM_015091,p.H623fs|ENST00000557423,p.H623fs	retained_intron, protein_coding, nonsense_mediated_decay	uc010anb.1	frameshift deletion	exon1	c.1869_1870del	p.H623fs	DWLLAGNRTQSAHCHCGDHVRDSMH	DWLLAGNRTQSAQSLW	5.0	5.0	unscreened	-	4037_14:45433493-45433494 CT>-_DWLLAGNRTQSAQSLW
2:74077635-74077635 A>G	1.0	4037	LUNG	-	-	-	-	STAMBP	ENST00000339566,p.I334V|ENST00000409707,p.I334V|uc002sjv.3,p.I334V|uc002sjs.3,p.I334V|ENST00000394073,p.I334V|uc002sju.3,p.I334V|NM_201647,p.I334V|NM_213622,p.I334V|ENST00000394070,p.I334V|NM_006463,p.I334V	protein_coding, processed_transcript	uc002sjv.3	nonsynonymous SNV	exon7	c.A1000G	p.I334V	IQDQQGLITLGWIHTHPTQTAFLSS	IQDQQGLITLGWVHTHPTQTAFLSS	9.0	10.0	-	-	4037_2:74077635-74077635 A>G_IQDQQGLITLGWVHTHPTQTAFLSS
6:137814959-137814959 A>G	0.0	4037	LUNG	-	-	-	-	OLIG3	uc003qhp.1,p.S117P|ENST00000367734,p.S117P|NM_175747,p.S117P	protein_coding	uc003qhp.1	nonsynonymous SNV	exon1	c.T349C	p.S117P	GLREVMPYAHGPSVRKLSKIATLLL	GLREVMPYAHGPPVRKLSKIATLLL	1.0	3.0	unscreened	-	4037_6:137814959-137814959 A>G_GLREVMPYAHGPPVRKLSKIATLLL
1:53546485-53546485 A>G	0.0	4037	LUNG	-	-	-	-	PODN	NM_153703,p.K581R|ENST00000395871,p.K439R|uc010ons.2,p.K439R|uc001cuw.3,p.K562R|uc010onr.2,p.K562R|uc001cuv.3,p.K581R|NM_001199081,p.K562R|ENST00000312553,p.K581R|NM_001199082,p.K439R|ENST00000371500,p.K562R|NM_001199080,p.K562R	protein_coding, processed_transcript	uc010ons.2	nonsynonymous SNV	exon5	c.A1316G	p.K439R	PESLEYLYLQNNKISAVPANAFDST	PESLEYLYLQNNRISAVPANAFDST	6.0	5.0	unscreened	-	4037_1:53546485-53546485 A>G_PESLEYLYLQNNRISAVPANAFDST
2:77746333-77746333 T>G	0.0	4037	LUNG	-	-	-	-	LRRTM4	uc002snr.3,p.N221T|ENST00000409088,p.N221T|NM_001282928,p.N222T|ENST00000409911,p.N222T|ENST00000409282,p.N222T|uc002sns.2,p.N221T|uc002snq.3,p.N221T|NM_024993,p.N221T|uc002snt.2,p.N222T|NM_001282924,p.N221T|ENST00000409884,p.N221T|ENST00000409093,p.N221T|NM_001134745,p.N221T	protein_coding, processed_transcript	uc002snt.2	nonsynonymous SNV	exon2	c.A665C	p.N222T	ELHLEHNQFSKINFAHFPRLFNLRS	ELHLEHNQFSKITFAHFPRLFNLRS	1.0	1.0	unscreened	-	4037_2:77746333-77746333 T>G_ELHLEHNQFSKITFAHFPRLFNLRS
16:88688745-88688745 G>A	1.0	4037	LUNG	-	-	-	-	ZC3H18	uc002fky.3,p.R539Q|uc010voz.2,p.R563Q|ENST00000452588,p.R563Q|ENST00000301011,p.R539Q|NM_144604,p.R539Q|NM_001294340,p.R563Q	retained_intron, protein_coding	uc010voz.2	nonsynonymous SNV	exon10	c.G1688A	p.R563Q	KKLGVSVSPSRARRRRKTSASSASA	KKLGVSVSPSRAQRRRKTSASSASA	8.0	3.0	unscreened	-	4037_16:88688745-88688745 G>A_KKLGVSVSPSRAQRRRKTSASSASA
8:105025828-105025828 C>G	0.0	4037	LUNG	-	-	-	-	RIMS2	uc003ylw.2,p.P882R|ENST00000504942,p.P1068R|ENST00000262231,p.P907R|NM_001282881,p.P907R|ENST00000406091,p.P1068R|uc003ylp.3,p.P1068R|ENST00000408894,p.P882R|ENST00000507740,p.P882R|uc003ylq.3,p.P882R|uc003ylr.3,p.P907R|NM_001100117,p.P1068R|NM_014677,p.P882R	retained_intron, protein_coding, processed_transcript	uc003ylw.2	nonsynonymous SNV	exon16	c.C2645G	p.P882R	RSMPSLMTGRSAPPSPALSRSHPRT	RSMPSLMTGRSARPSPALSRSHPRT	1.0	10.0	unscreened	-	4037_8:105025828-105025828 C>G_RSMPSLMTGRSARPSPALSRSHPRT
10:107022093-107022093 A>T	0.0	4037	LUNG	-	-	-	-	SORCS3	NM_014978,p.I1150F|uc001kyi.1,p.I1150F|ENST00000369701,p.I1150F	protein_coding	uc001kyi.1	nonsynonymous SNV	exon26	c.A3448T	p.I1150F	LAVFLIYKFKRKIPWINIYAQVQHD	LAVFLIYKFKRKFPWINIYAQVQHD	1.0	10.0	unscreened	-	4037_10:107022093-107022093 A>T_LAVFLIYKFKRKFPWINIYAQVQHD
10:12185174-12185174 T>G	1.0	4037	LUNG	-	-	-	-	SEC61A2	ENST00000441368,p.V67G|ENST00000472221,p.V67G|ENST00000298428,p.V67G|uc001ilg.4,p.V67G|ENST00000475268,p.V67G|NM_018144,p.V67G|NM_001142627,p.V67G|ENST00000379020,p.V67G|uc010qbq.1,p.V45G|ENST00000379017,p.V67G|ENST00000379051,p.V67G|uc001ile.2,p.V67G|NM_001142628,p.V45G|ENST00000304267,p.V67G|ENST00000379033,p.V45G	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qbq.1	nonsynonymous SNV	exon3	c.T134G	p.V45G	SSDSADPFYWMRVILASNRGTLMEL	SSDSADPFYWMRGILASNRGTLMEL	6.0	8.0	unscreened	-	4037_10:12185174-12185174 T>G_SSDSADPFYWMRGILASNRGTLMEL
3:12976948-12976948 T>G	0.0	4037	LUNG	-	-	-	-	IQSEC1	NM_001134382,p.K523T|ENST00000429247,p.K523T|uc003bxu.4,p.K415T|NM_014869,p.K537T|uc003bxt.3,p.K537T|uc011auw.2,p.K523T|ENST00000273221,p.K537T	protein_coding, processed_transcript	uc011auw.2	nonsynonymous SNV	exon3	c.A1568C	p.K523T	KRHYRIGLNLFNKKPEKGVQYLIER	KRHYRIGLNLFNTKPEKGVQYLIER	7.0	3.0	unscreened	-	4037_3:12976948-12976948 T>G_KRHYRIGLNLFNTKPEKGVQYLIER
5:150917452-150917452 T>G	0.0	4037	LUNG	-	-	-	-	FAT2	ENST00000261800,p.K3032T|NM_001447,p.K3032T|uc003lue.4,p.K3032T	protein_coding	uc003lue.4	nonsynonymous SNV	exon11	c.A9095C	p.K3032T	VHEDVFPGHFILKVSATDLDTDTNA	VHEDVFPGHFILTVSATDLDTDTNA	3.0	1.0	unscreened	-	4037_5:150917452-150917452 T>G_VHEDVFPGHFILTVSATDLDTDTNA
3:154033920-154033920 T>G	0.0	4037	LUNG	-	-	-	-	DHX36	uc010hvq.3,p.E92D|NM_001114397,p.E92D|uc003ezy.4,p.E92D|ENST00000308361,p.E92D|ENST00000544526,p.E92D|uc003ezz.4,p.E92D|ENST00000329463,p.E92D|ENST00000496811,p.E92D|NM_020865,p.E92D	retained_intron, protein_coding, nonsense_mediated_decay	uc010hvq.3	nonsynonymous SNV	exon2	c.A276C	p.E92D	QERAVVHMDERREEQIVQLLNSVQA	QERAVVHMDERRDEQIVQLLNSVQA	8.0	6.0	unscreened	-	4037_3:154033920-154033920 T>G_QERAVVHMDERRDEQIVQLLNSVQA
10:91470897-91470897 A>G	1.0	4037	LUNG	-	-	-	-	KIF20B	uc001kgs.1,p.K224E|ENST00000416354,p.K224E|ENST00000371728,p.K224E|ENST00000394289,p.K224E|NM_001284259,p.K224E|NM_016195,p.K224E|ENST00000260753,p.K224E|uc001kgr.1,p.K224E	protein_coding, processed_transcript	uc001kgs.1	nonsynonymous SNV	exon6	c.A670G	p.K224E	EIASKSALLRQIKEVTVHNDSDDTL	EIASKSALLRQIEEVTVHNDSDDTL	6.0	10.0	unscreened	-	4037_10:91470897-91470897 A>G_EIASKSALLRQIEEVTVHNDSDDTL
16:19725934-19725934 T>G	1.0	4037	LUNG	-	-	-	-	KNOP1	ENST00000219837,p.T142P|uc002dgq.3,p.T142P|NM_001012991,p.T142P	retained_intron, protein_coding	uc002dgq.3	nonsynonymous SNV	exon2	c.A424C	p.T142P	KTSPDPRQGEEETRVGKKLKKHKKE	KTSPDPRQGEEEPRVGKKLKKHKKE	9.0	7.0	unscreened	-	4037_16:19725934-19725934 T>G_KTSPDPRQGEEEPRVGKKLKKHKKE
11:6261461-6261461 G>A	0.0	4037	LUNG	-	-	-	-	CNGA4	uc001mco.3,p.R146H|NM_001037329,p.R146H|ENST00000379936,p.R146H|uc001mcn.3,p.R106H	protein_coding	uc001mco.3	nonsynonymous SNV	exon4	c.G437A	p.R146H	PHTPTLRLNRFLRAPRLFEAFDRTE	PHTPTLRLNRFLHAPRLFEAFDRTE	2.0	10.0	unscreened	-	4037_11:6261461-6261461 G>A_PHTPTLRLNRFLHAPRLFEAFDRTE
11:17124296-17124297 TT>-	1.0	4037	LUNG	-	-	-	-	PIK3C2A	NM_002645,p.N1255fs|uc001mmq.4,p.N1255fs|uc010rcw.2,p.N875fs|ENST00000540361,p.N875fs|ENST00000265970,p.N1255fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc010rcw.2	frameshift deletion	exon23	c.2623_2624del	p.N875fs	TYVLGICDRHNDNIMLRSTGHMFHI	TYVLGICDRHNDYNASKHGTHVSH	7.0	10.0	unscreened	-	4037_11:17124296-17124297 TT>-_TYVLGICDRHNDYNASKHGTHVSH
7:35244159-35244159 T>A	1.0	4037	LUNG	-	-	-	-	TBX20	uc011kas.2,p.Y309F|NM_001077653,p.Y309F|ENST00000408931,p.Y309F	retained_intron, protein_coding	uc011kas.2	nonsynonymous SNV	exon7	c.A926T	p.Y309F	RESVESLIQKHSYARSPIRTYGGEE	RESVESLIQKHSFARSPIRTYGGEE	4.0	7.0	unscreened	-	4037_7:35244159-35244159 T>A_RESVESLIQKHSFARSPIRTYGGEE
1:89298988-89298988 A>G	0.0	4037	LUNG	-	-	-	-	PKN2	ENST00000370521,p.R938G|ENST00000370513,p.R890G|uc010osr.2,p.R603G|uc010osp.2,p.R922G|NM_006256,p.R938G|ENST00000370505,p.R781G|uc001dmn.3,p.R938G|uc009wcv.3,p.R890G|uc010osq.2,p.R781G|ENST00000544045,p.R612G	protein_coding, processed_transcript	uc010osr.2	nonsynonymous SNV	exon17	c.A1807G	p.R603G	DKKVKPPFIPTIRGREDVSNFDDEF	DKKVKPPFIPTIGGREDVSNFDDEF	8.0	5.0	unscreened	-	4037_1:89298988-89298988 A>G_DKKVKPPFIPTIGGREDVSNFDDEF
1:34100867-34100867 T>G	0.0	4037	LUNG	-	-	-	-	CSMD2	NM_001281956,p.N1678T|uc001bxo.1,p.N551T|ENST00000373380,p.N551T|uc001bxm.1,p.N1678T|ENST00000373381,p.N1678T|NM_052896,p.N1638T|uc001bxn.1,p.N1638T|ENST00000241312,p.N1638T	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxo.1	nonsynonymous SNV	exon10	c.A1652C	p.N551T	SDGVVLSPNYPQNYTSGQICLYFVT	SDGVVLSPNYPQTYTSGQICLYFVT	1.0	8.0	unscreened	-	4037_1:34100867-34100867 T>G_SDGVVLSPNYPQTYTSGQICLYFVT
7:143053734-143053734 T>A	0.0	4037	LUNG	-	-	-	2	FAM131B	ENST00000409578,p.E319V|ENST00000409408,p.E303V|uc010lpa.3,p.E331V|ENST00000443739,p.E331V|uc003wct.3,p.E303V|NM_001031690,p.E331V|uc010loz.3,p.E271V|NM_014690,p.E303V|NM_001278297,p.E237V|uc031szl.1,p.E237V|ENST00000409222,p.E303V|ENST00000409346,p.E303V|uc003wcu.4,p.E303V	retained_intron, protein_coding, nonsense_mediated_decay	uc031szl.1	nonsynonymous SNV	exon6	c.A710T	p.E237V	RDLESLSPREDPEMSTALSRKVSDV	RDLESLSPREDPVMSTALSRKVSDV	2.0	4.0	unscreened	-	4037_7:143053734-143053734 T>A_RDLESLSPREDPVMSTALSRKVSDV
7:27868327-27868327 T>G	1.0	4037	LUNG	-	-	-	-	TAX1BP1	uc011jzo.2,p.V708G|ENST00000457186,p.V287G|NM_001206902,p.V551G|uc003szk.3,p.V708G|NM_001206901,p.V708G|NM_001079864,p.V708G|ENST00000543117,p.V708G|ENST00000265393,p.V708G|ENST00000396319,p.V750G|uc011jzp.2,p.V551G|NM_006024,p.V750G|uc003szl.3,p.V750G|ENST00000409980,p.V774G|ENST00000433216,p.V551G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011jzp.2	nonsynonymous SNV	exon16	c.T1652G	p.V551G	PPNYDQSKFEEHVESHWKVCPMCSE	PPNYDQSKFEEHGESHWKVCPMCSE	10.0	6.0	unscreened	-	4037_7:27868327-27868327 T>G_PPNYDQSKFEEHGESHWKVCPMCSE
6:158538822-158538822 C>T	0.0	4037	LUNG	-	-	ID=COSM1672941;OCCURENCE=1(large_intestine)	-	SERAC1	ENST00000367104,p.R447Q|uc003qrb.2,p.R175Q|ENST00000367102,p.R447Q|ENST00000435180,p.R22Q|NM_032861,p.R447Q|uc003qrc.2,p.R447Q|ENST00000367101,p.R447Q	protein_coding	uc003qrc.2	nonsynonymous SNV	exon13	c.G1340A	p.R447Q	PKTWLAKDCPALRIISVEYDTSLSD	PKTWLAKDCPALQIISVEYDTSLSD	4.0	1.0	unscreened	-	4037_6:158538822-158538822 C>T_PKTWLAKDCPALQIISVEYDTSLSD
13:95121174-95121174 A>C	0.0	4037	LUNG	-	-	-	-	DCT	ENST00000446125,p.F141V|ENST00000377028,p.F141V|uc001vlv.4,p.F141V|NM_001129889,p.F141V|uc010afh.3,p.F141V|NM_001922,p.F141V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010afh.3	nonsynonymous SNV	exon2	c.T421G	p.F141V	NIHSLSPQEREQFLGALDLAKKRVH	NIHSLSPQEREQVLGALDLAKKRVH	1.0	3.0	unscreened	-	4037_13:95121174-95121174 A>C_NIHSLSPQEREQVLGALDLAKKRVH
12:55715146-55715146 T>G	0.0	4037	LUNG	-	-	-	-	OR6C1	uc010spi.2,p.F255V|NM_001005182,p.F255V|ENST00000379668,p.F255V	protein_coding	uc010spi.2	nonsynonymous SNV	exon1	c.T763G	p.F255V	MVVVSISYGSCIFMYIKPSAKDRVS	MVVVSISYGSCIVMYIKPSAKDRVS	1.0	2.0	unscreened	-	4037_12:55715146-55715146 T>G_MVVVSISYGSCIVMYIKPSAKDRVS
10:71018619-71018619 A>G	0.0	4037	LUNG	-	-	-	-	HKDC1	uc001jpf.4,p.E707G|uc010qje.2,p.E570G|NM_025130,p.E707G|ENST00000354624,p.E707G|ENST00000395086,p.E707G	protein_coding, processed_transcript	uc010qje.2	nonsynonymous SNV	exon12	c.A1709G	p.E570G	VEGGEGKMCINTEWGGFGDNGCIDD	VEGGEGKMCINTGWGGFGDNGCIDD	1.0	1.0	unscreened	-	4037_10:71018619-71018619 A>G_VEGGEGKMCINTGWGGFGDNGCIDD
11:5475107-5475107 T>C	0.0	4037	LUNG	-	-	-	-	OR51I2	NM_001004754,p.L130S|uc010qzf.2,p.L130S|ENST00000341449,p.L130S	protein_coding	uc010qzf.2	nonsynonymous SNV	exon1	c.T389C	p.L130S	MSFDRYVAICDPLRYATVLTTEVIA	MSFDRYVAICDPSRYATVLTTEVIA	1.0	10.0	unscreened	-	4037_11:5475107-5475107 T>C_MSFDRYVAICDPSRYATVLTTEVIA
6:111709024-111709024 A>C	0.0	4037	LUNG	-	-	-	-	REV3L	ENST00000368805,p.L347R|NM_001286431,p.L269R|ENST00000368802,p.L347R|NM_002912,p.L347R|uc003puz.4,p.L269R|ENST00000435970,p.L269R|uc003pux.4,p.L269R|NM_001286432,p.L269R|uc003puy.4,p.L347R|ENST00000358835,p.L347R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003puz.4	nonsynonymous SNV	exon11	c.T806G	p.L269R	LTLHSEVLSPEMLQCTPANMVEVHK	LTLHSEVLSPEMRQCTPANMVEVHK	5.0	3.0	unscreened	-	4037_6:111709024-111709024 A>C_LTLHSEVLSPEMRQCTPANMVEVHK
20:58440447-58440447 T>C	1.0	4037	LUNG	-	-	-	-	SYCP2	uc002yaz.3,p.D1504G|NM_014258,p.D1504G|ENST00000412613,p.D190G|ENST00000371001,p.D1504G|ENST00000357552,p.D1504G	retained_intron, protein_coding, processed_transcript	uc002yaz.3	nonsynonymous SNV	exon43	c.A4511G	p.D1504G	EDMKVLQDRLLKDMLEEELLNVRRE	EDMKVLQDRLLKGMLEEELLNVRRE	9.0	3.0	unscreened	-	4037_20:58440447-58440447 T>C_EDMKVLQDRLLKGMLEEELLNVRRE
6:109871358-109871358 C>T	0.0	4037	LUNG	-	-	-	-	AK9	ENST00000341338,p.A46T|NM_001145128,p.A967T|ENST00000424296,p.A967T|uc003ptn.2,p.A967T|ENST00000355283,p.A46T|uc011eat.1,p.A46T	retained_intron, protein_coding	uc011eat.1	nonsynonymous SNV	exon1	c.G136A	p.A46T	AKYREKIYYFSSAEAKEKFLEHPED	AKYREKIYYFSSTEAKEKFLEHPED	4.0	10.0	unscreened	-	4037_6:109871358-109871358 C>T_AKYREKIYYFSSTEAKEKFLEHPED
1:201352230-201352230 C>T	1.0	4037	LUNG	-	-	-	-	LAD1	ENST00000367313,p.S467N|ENST00000391967,p.S453N|uc001gwm.3,p.S453N|NM_005558,p.S453N|ENST00000503578,p.S104N	protein_coding, processed_transcript	uc001gwm.3	nonsynonymous SNV	exon7	c.G1358A	p.S453N	KRHLFEKELAGQSRAEPASSRKENL	KRHLFEKELAGQNRAEPASSRKENL	10.0	2.0	unscreened	-	4037_1:201352230-201352230 C>T_KRHLFEKELAGQNRAEPASSRKENL
11:12533066-12533066 T>G	1.0	4037	LUNG	-	-	-	-	PARVA	uc010rck.1,p.L188R|ENST00000550549,p.L241R|NM_018222,p.L281R|ENST00000538608,p.L188R|ENST00000334956,p.L281R|uc001mki.4,p.L281R	retained_intron, protein_coding, processed_transcript	uc010rck.1	nonsynonymous SNV	exon8	c.T563G	p.L188R	QIQEEITGNTEALSGRHERDAFDTL	QIQEEITGNTEARSGRHERDAFDTL	8.0	9.0	-	-	4037_11:12533066-12533066 T>G_QIQEEITGNTEARSGRHERDAFDTL
9:5763635-5763637 GAA>-	1.0	4037	LUNG	-	-	-	-	RIC1	ENST00000414202,p.870_870del|ENST00000418622,p.791_791del|uc003zjh.4,p.870_870del|uc003zjl.4,p.833_833del|ENST00000381532,p.791_791del|NM_020829,p.870_870del|ENST00000251879,p.870_870del|ENST00000449720,p.754_754del|uc003zji.4,p.870_870del|NM_001206557,p.833_833del|NM_001135920,p.870_870del|uc003zjj.1,p.333_333del	retained_intron, protein_coding, nonsense_mediated_decay	uc003zjl.4	nonframeshift deletion	exon18	c.2497_2499del	p.833_833del	PHVLELMLHEVLEEEATSREPIPDP	PHVLELMLHEVLEEATSREPIPDPL	9.0	8.0	-	-	4037_9:5763635-5763637 GAA>-_PHVLELMLHEVLEEATSREPIPDPL
16:75512922-75512922 G>T	0.0	4037	LUNG	-	-	-	-	CHST6	uc021tlj.1,p.R269S|ENST00000390664,p.R269S|uc002fef.3,p.R269S|ENST00000332272,p.R269S|NM_021615,p.R269S|uc002feh.1,p.R269S	protein_coding	uc021tlj.1	nonsynonymous SNV	exon1	c.C805A	p.R269S	TLKPPPFLRGRYRLVRFEDLAREPL	TLKPPPFLRGRYSLVRFEDLAREPL	2.0	2.0	unscreened	-	4037_16:75512922-75512922 G>T_TLKPPPFLRGRYSLVRFEDLAREPL
17:35413924-35413924 T>G	1.0	4037	LUNG	-	-	-	-	AATF	ENST00000225402,p.F548C|uc002hni.3,p.F548C|NM_012138,p.F548C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002hni.3	nonsynonymous SNV	exon12	c.T1643G	p.F548C	NDDARTELYRSLFGQLHPPDEGHGD	NDDARTELYRSLCGQLHPPDEGHGD	9.0	3.0	unscreened	-	4037_17:35413924-35413924 T>G_NDDARTELYRSLCGQLHPPDEGHGD
6:41554844-41554844 T>C	1.0	4037	LUNG	-	-	-	-	FOXP4	ENST00000409208,p.V203A|uc003oqm.3,p.V201A|ENST00000307972,p.V203A|NM_001012426,p.V203A|ENST00000373063,p.V203A|ENST00000373057,p.V201A|NM_138457,p.V203A|ENST00000373060,p.V203A|NM_001012427,p.V201A|uc003oqn.3,p.V203A|uc003oql.3,p.V203A	protein_coding	uc003oqn.3	nonsynonymous SNV	exon6	c.T608C	p.V203A	QQHLLNLQRQGLVSLQPNQASGPLQ	QQHLLNLQRQGLASLQPNQASGPLQ	7.0	4.0	unscreened	-	4037_6:41554844-41554844 T>C_QQHLLNLQRQGLASLQPNQASGPLQ
5:161324298-161324298 A>C	0.0	4037	LUNG	-	-	-	-	GABRA1	uc010jiy.3,p.N414T|NM_001127643,p.N414T|ENST00000023897,p.N414T|NM_001127648,p.N414T|NM_000806,p.N414T|ENST00000420560,p.N414T|NM_001127644,p.N414T|uc003lyx.4,p.N414T|uc010jix.3,p.N414T|NM_001127645,p.N414T|uc010jiw.3,p.N414T|ENST00000393943,p.N414T|ENST00000437025,p.N414T|ENST00000444819,p.N414T|uc010jjb.3,p.N414T|ENST00000428797,p.N414T	retained_intron, protein_coding	uc010jjb.3	nonsynonymous SNV	exon9	c.A1241C	p.N414T	PETKPPEPKKTFNSVSKIDRLSRIA	PETKPPEPKKTFTSVSKIDRLSRIA	1.0	8.0	unscreened	-	4037_5:161324298-161324298 A>C_PETKPPEPKKTFTSVSKIDRLSRIA
X:100169704-100169704 A>G	0.0	4037	LUNG	-	-	-	-	XKRX	ENST00000328526,p.S338P|NM_212559,p.S325P|uc011mre.1,p.S121P|ENST00000372956,p.S325P|uc004egn.2,p.S325P	protein_coding	uc011mre.1	nonsynonymous SNV	exon2	c.T361C	p.S121P	ISVTILYAGINFSCWSALQLRLADR	ISVTILYAGINFPCWSALQLRLADR	2.0	8.0	unscreened	-	4037_X:100169704-100169704 A>G_ISVTILYAGINFPCWSALQLRLADR
12:39973337-39973337 T>G	0.0	4037	LUNG	-	-	-	-	ABCD2	ENST00000308666,p.K626T|NM_005164,p.K626T|uc001rmb.2,p.K626T	protein_coding	uc001rmb.2	nonsynonymous SNV	exon8	c.A1877C	p.K626T	KQRMGMARMFYHKPKYALLDECTSA	KQRMGMARMFYHTPKYALLDECTSA	1.0	2.0	unscreened	-	4037_12:39973337-39973337 T>G_KQRMGMARMFYHTPKYALLDECTSA
16:16173318-16173318 G>A	0.0	4037	LUNG	-	-	-	-	ABCC1	ENST00000399408,p.G700R|uc010bvi.3,p.G700R|ENST00000399410,p.G700R|uc002del.4,p.G584R|NM_004996,p.G700R|ENST00000346370,p.G700R|ENST00000345148,p.G700R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bvi.3	nonsynonymous SNV	exon16	c.G2098A	p.G700R	LSALLAEMDKVEGHVAIKGSVAYVP	LSALLAEMDKVERHVAIKGSVAYVP	7.0	3.0	unscreened	-	4037_16:16173318-16173318 G>A_LSALLAEMDKVERHVAIKGSVAYVP
7:134260268-134260268 C>A	0.0	4037	LUNG	-	-	-	-	AKR1B15	uc011kpr.2,p.L204M|ENST00000423958,p.L176M|NM_001080538,p.L204M|ENST00000457545,p.L204M	retained_intron, protein_coding	uc011kpr.2	nonsynonymous SNV	exon7	c.C610A	p.L204M	HFQIERLLNKPGLKYKPVTNQVECH	HFQIERLLNKPGMKYKPVTNQVECH	4.0	2.0	unscreened	-	4037_7:134260268-134260268 C>A_HFQIERLLNKPGMKYKPVTNQVECH
5:156608017-156608017 A>G	0.0	4037	LUNG	-	-	-	1	ITK	ENST00000517779,p.Q10R|NM_005546,p.Q10R|uc003lwo.1,p.Q10R|ENST00000422843,p.Q10R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003lwo.1	nonsynonymous SNV	exon1	c.A29G	p.Q10R	MNNFILLEEQLIKKSQQKRRTS	MNNFILLEERLIKKSQQKRRTS	4.0	8.0	unscreened	-	4037_5:156608017-156608017 A>G_MNNFILLEERLIKKSQQKRRTS
2:32702595-32702595 T>A	1.0	4037	LUNG	-	-	-	2	BIRC6	uc010ezu.3,p.F2338I|ENST00000421745,p.F2338I|NM_016252,p.F2338I	retained_intron, protein_coding, nonsense_mediated_decay	uc010ezu.3	nonsynonymous SNV	exon35	c.T7012A	p.F2338I	ERCISVVQKLVLFLLSMDFTCHADL	ERCISVVQKLVLILLSMDFTCHADL	8.0	10.0	-	-	4037_2:32702595-32702595 T>A_ERCISVVQKLVLILLSMDFTCHADL
19:37045685-37045685 A>C	0.0	4037	LUNG	-	-	-	-	ZNF529	uc010xth.2,p.L41R|ENST00000585983,p.L41R|NM_001145649,p.L41R|ENST00000591340,p.L41R|NM_001145650,p.L23R|uc002oeh.4,p.L41R|uc010xti.2,p.L23R|ENST00000585960,p.L23R|NM_020951,p.L41R	protein_coding, processed_transcript	uc010xti.2	nonsynonymous SNV	exon4	c.T68G	p.L23R	FTVLTMDHELVTLRDVVINFSQEEW	FTVLTMDHELVTRRDVVINFSQEEW	5.0	4.0	unscreened	-	4037_19:37045685-37045685 A>C_FTVLTMDHELVTRRDVVINFSQEEW
17:56276446-56276446 C>G	0.0	4037	LUNG	-	-	-	-	EPX	uc002ivq.3,p.T389S|NM_000502,p.T389S|ENST00000225371,p.T389S	protein_coding	uc002ivq.3	nonsynonymous SNV	exon8	c.C1166G	p.T389S	RSTETPKLAAMHTLFMREHNRLATE	RSTETPKLAAMHSLFMREHNRLATE	1.0	2.0	unscreened	-	4037_17:56276446-56276446 C>G_RSTETPKLAAMHSLFMREHNRLATE
3:55021775-55021775 ->A	0.0	4037	LUNG	-	-	-	-	CACNA2D3	NM_018398,p.F895fs|uc003dhg.1,p.F801fs|ENST00000415676,p.F895fs|ENST00000288197,p.F895fs|ENST00000490478,p.F801fs|uc003dhf.3,p.F895fs|ENST00000474759,p.F895fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003dhg.1	frameshift insertion	exon30	c.2404dupA	p.F801fs	GAVMNKLLTMGSFKRITLYDYQAMC	GAVMNKLLTMGSFKKNYPL	1.0	10.0	unscreened	-	4037_3:55021775-55021775 ->A_GAVMNKLLTMGSFKKNYPL
5:175957591-175957591 A>C	0.0	4037	LUNG	-	-	-	-	RNF44	NM_014901,p.F265V|ENST00000537487,p.F184V|ENST00000274811,p.F265V|uc003mek.1,p.F265V|uc011dfo.1,p.F173V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dfo.1	nonsynonymous SNV	exon6	c.T517G	p.F173V	YLPHDPLHQELSFGVPYSHMMPRRL	YLPHDPLHQELSVGVPYSHMMPRRL	9.0	6.0	unscreened	-	4037_5:175957591-175957591 A>C_YLPHDPLHQELSVGVPYSHMMPRRL
19:519206-519206 A>G	0.0	4037	LUNG	-	-	-	-	TPGS1	NM_033513,p.Q219R|uc002lou.3,p.Q219R|ENST00000359315,p.Q219R	retained_intron, protein_coding	uc002lou.3	nonsynonymous SNV	exon2	c.A656G	p.Q219R	DSAAAVADRRVGQAVLDTLEGALQA	DSAAAVADRRVGRAVLDTLEGALQA	6.0	6.0	unscreened	-	4037_19:519206-519206 A>G_DSAAAVADRRVGRAVLDTLEGALQA
7:33014363-33014363 A>G	0.0	4037	LUNG	-	rs2953556	-	2	FKBP9	NM_007270,p.N119S|uc003tdh.3,p.N119S|ENST00000538336,p.N172S|uc010kwm.3,p.N26S|ENST00000242209,p.N119S|NM_001284341,p.N172S|uc011kal.2,p.N172S	retained_intron, protein_coding, processed_transcript	uc011kal.2	nonsynonymous SNV	exon3	c.A515G	p.N172S	RFVKIPPKLAYGNEGVSGVIPPNSV	RFVKIPPKLAYGSEGVSGVIPPNSV	9.0	4.0	unscreened	-	4037_7:33014363-33014363 A>G_RFVKIPPKLAYGSEGVSGVIPPNSV
3:33450282-33450282 A>C	1.0	4037	LUNG	-	-	-	-	UBP1	ENST00000283628,p.L276R|ENST00000283629,p.L276R|uc010hga.3,p.L276R|NM_001128161,p.L276R|NM_014517,p.L276R|uc003cfq.4,p.L276R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hga.3	nonsynonymous SNV	exon9	c.T827G	p.L276R	PSYDTTILTEMRLEPIIEDAVEHEQ	PSYDTTILTEMRREPIIEDAVEHEQ	9.0	4.0	unscreened	-	4037_3:33450282-33450282 A>C_PSYDTTILTEMRREPIIEDAVEHEQ
1:111862040-111862040 A>G	0.0	4037	LUNG	-	-	-	-	CHIA	uc001eau.4,p.K215R|uc001eaq.4,p.K268R|uc001eas.4,p.K376R|ENST00000422815,p.K320R|ENST00000489524,p.K215R|uc009wgd.4,p.K215R|NM_021797,p.K268R|NM_201653,p.K376R|uc001ear.4,p.K268R|NM_001258003,p.K268R|ENST00000369740,p.K376R|uc001eat.4,p.K215R|ENST00000451398,p.K215R|NM_001258002,p.K215R|ENST00000430615,p.K268R|uc001eav.4,p.K215R|NM_001258001,p.K268R|ENST00000353665,p.K215R|NM_001258005,p.K215R|uc009wgc.4,p.K268R|ENST00000483391,p.K215R|NM_001258004,p.K215R|NM_001040623,p.K215R|ENST00000343320,p.K376R	retained_intron, protein_coding, nonsense_mediated_decay	uc009wgd.4	nonsynonymous SNV	exon10	c.A644G	p.K215R	LDDFTGTFCNQGKFPLISTLKKALG	LDDFTGTFCNQGRFPLISTLKKALG	1.0	1.0	unscreened	-	4037_1:111862040-111862040 A>G_LDDFTGTFCNQGRFPLISTLKKALG
3:97806539-97806541 ATA>-	0.0	4037	LUNG	-	-	-	-	OR5AC2	uc011bgs.2,p.175_175del|NM_054106,p.175_175del|ENST00000358642,p.175_175del	protein_coding	uc011bgs.2	nonframeshift deletion	exon1	c.523_525del	p.175_175del	SLLLRLTFCRFNIIHYFYCEILQLF	SLLLRLTFCRFNIHYFYCEILQLFK	1.0	1.0	unscreened	-	4037_3:97806539-97806541 ATA>-_SLLLRLTFCRFNIHYFYCEILQLFK
15:75042362-75042362 C>T	0.0	4037	LUNG	-	-	-	-	CYP1A2	uc002ayr.1,p.R95W|NM_000761,p.R95W|ENST00000343932,p.R95W	protein_coding	uc002ayr.1	nonsynonymous SNV	exon2	c.C283T	p.R95W	TPVLVLSRLDTIRQALVRQGDDFKG	TPVLVLSRLDTIWQALVRQGDDFKG	1.0	5.0	unscreened	-	4037_15:75042362-75042362 C>T_TPVLVLSRLDTIWQALVRQGDDFKG
12:120172119-120172119 T>C	0.0	4037	LUNG	-	-	-	-	CIT	uc001txj.2,p.Q1067R|ENST00000261833,p.Q1025R|uc001txh.2,p.Q559R|ENST00000546026,p.Q67R|ENST00000392521,p.Q1067R|NM_001206999,p.Q1067R|uc001txi.2,p.Q1025R|NM_007174,p.Q1025R	retained_intron, protein_coding, processed_transcript	uc001txj.2	nonsynonymous SNV	exon26	c.A3200G	p.Q1067R	EALKTTCTMLEEQVMDLEALNDELL	EALKTTCTMLEERVMDLEALNDELL	6.0	5.0	unscreened	-	4037_12:120172119-120172119 T>C_EALKTTCTMLEERVMDLEALNDELL
7:1539840-1539840 T>G	0.0	4037	LUNG	-	-	-	-	INTS1	NM_001080453,p.K171T|uc003skn.2,p.K171T|uc003skq.2,p.K171T|ENST00000389470,p.K299T|ENST00000404767,p.K171T	retained_intron, protein_coding, processed_transcript	uc003skq.2	nonsynonymous SNV	exon4	c.A512C	p.K171T	TLYLSLMYLAKIKPNIFATEGVIEA	TLYLSLMYLAKITPNIFATEGVIEA	7.0	3.0	unscreened	-	4037_7:1539840-1539840 T>G_TLYLSLMYLAKITPNIFATEGVIEA
17:2324186-2324186 T>C	0.0	4037	LUNG	-	-	-	-	METTL16	uc010vqy.1,p.K83E|ENST00000576155,p.K301E|ENST00000538844,p.K83E|uc002fut.3,p.K301E|NM_024086,p.K301E|ENST00000263092,p.K301E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vqy.1	nonsynonymous SNV	exon7	c.A247G	p.K83E	FYDDVTVPSPPSKRRKLEKPRKPIT	FYDDVTVPSPPSERRKLEKPRKPIT	7.0	3.0	unscreened	-	4037_17:2324186-2324186 T>C_FYDDVTVPSPPSERRKLEKPRKPIT
15:64019917-64019917 A>G	0.0	4037	LUNG	-	-	-	-	HERC1	uc002amp.3,p.L1092P|NM_003922,p.L1092P|ENST00000443617,p.L1092P	retained_intron, protein_coding, nonsense_mediated_decay	uc002amp.3	nonsynonymous SNV	exon17	c.T3275C	p.L1092P	PLLSYLLDLLPPLDCLNRLLPAADL	PLLSYLLDLLPPPDCLNRLLPAADL	7.0	4.0	unscreened	-	4037_15:64019917-64019917 A>G_PLLSYLLDLLPPPDCLNRLLPAADL
9:35685540-35685540 T>G	0.0	4037	LUNG	-	-	-	-	TPM2	NM_001301227,p.K128T|ENST00000378292,p.K128T|ENST00000378300,p.K128T|uc003zxq.3,p.K128T|NM_213674,p.K128T|NM_003289,p.K128T|ENST00000329305,p.K128T|uc011lpa.2,p.K128T|uc010mkz.3,p.K128T|uc003zxs.3,p.K128T|NM_001301226,p.K128T|ENST00000360958,p.K128T	protein_coding, processed_transcript	uc011lpa.2	nonsynonymous SNV	exon4	c.A383C	p.K128T	AEKAADESERGMKVIENRAMKDEEK	AEKAADESERGMTVIENRAMKDEEK	8.0	4.0	unscreened	-	4037_9:35685540-35685540 T>G_AEKAADESERGMTVIENRAMKDEEK
3:111768780-111768780 T>A	0.0	4037	LUNG	-	-	-	-	TMPRSS7	NM_001042575,p.L224H|uc010hqb.2,p.L224H|ENST00000419127,p.L224H|ENST00000452346,p.L350H|uc011bhr.1,p.L79H	protein_coding, nonsense_mediated_decay	uc011bhr.1	nonsynonymous SNV	exon7	c.T236A	p.L79H	MLVTFKSPHIRRLSGIRAYFEVIPE	MLVTFKSPHIRRHSGIRAYFEVIPE	1.0	10.0	unscreened	-	4037_3:111768780-111768780 T>A_MLVTFKSPHIRRHSGIRAYFEVIPE
12:109281288-109281288 A>C	0.0	4037	LUNG	-	-	-	-	DAO	ENST00000228476,p.N86T|ENST00000551281,p.N86T|uc001tnr.4,p.N86T|ENST00000549215,p.N86T|NM_001917,p.N86T|ENST00000547166,p.N86T|uc001tnq.4,p.N86T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001tnr.4	nonsynonymous SNV	exon3	c.A257C	p.N86T	YLLSHVHSPNAENLGLFLISGYNLF	YLLSHVHSPNAETLGLFLISGYNLF	1.0	5.0	unscreened	-	4037_12:109281288-109281288 A>C_YLLSHVHSPNAETLGLFLISGYNLF
21:47811208-47811208 A>G	0.0	4037	LUNG	-	-	-	-	PCNT	uc002zjj.3,p.E1260G|NM_006031,p.E1378G|ENST00000359568,p.E1378G|uc002zji.4,p.E1378G	retained_intron, protein_coding, processed_transcript	uc002zjj.3	nonsynonymous SNV	exon21	c.A3779G	p.E1260G	ESLRRQLQQAAQEQAALREECTRLW	ESLRRQLQQAAQGQAALREECTRLW	8.0	3.0	unscreened	-	4037_21:47811208-47811208 A>G_ESLRRQLQQAAQGQAALREECTRLW
3:150877822-150877824 CTT>-	1.0	4037	LUNG	-	-	-	-	MED12L	uc003eyp.3,p.347_348del|uc003eyo.3,p.347_348del|ENST00000474524,p.347_348del|ENST00000309237,p.347_348del|ENST00000422248,p.347_348del|uc003eyn.3,p.347_348del|NM_053002,p.347_348del	protein_coding, processed_transcript	uc003eyp.3	nonframeshift deletion	exon7	c.1041_1043del	p.347_348del	GPPGPGMSPVQLAFSDFLSCAQHGP	GPPGPGMSPVQLASDFLSCAQHGPL	3.0	9.0	unscreened	-	4037_3:150877822-150877824 CTT>-_GPPGPGMSPVQLASDFLSCAQHGPL
7:42951617-42951617 C>G	0.0	4037	LUNG	-	-	-	-	C7orf25	NM_001099858,p.R17P|uc010kxr.3,p.R17P|ENST00000431882,p.R17P|uc003thx.4,p.R17P	protein_coding	uc010kxr.3	nonsynonymous SNV	exon6	c.G50C	p.R17P	PEAAGLARVEPPRRSSGVGAARLRF	PEAAGLARVEPPPRSSGVGAARLRF	7.0	1.0	unscreened	-	4037_7:42951617-42951617 C>G_PEAAGLARVEPPPRSSGVGAARLRF
1:173855048-173855048 T>C	0.0	4037	LUNG	-	-	-	-	ZBTB37	ENST00000427304,p.V433A|ENST00000367701,p.V433A|NM_001122770,p.V433A|uc009wwp.1,p.V433A|uc001gjr.2,p.V433A|ENST00000490000,p.V433A	protein_coding, nonsense_mediated_decay	uc009wwp.1	nonsynonymous SNV	exon5	c.T1298C	p.V433A	RKHTGNKPFHCHVCGKSFPFQAILN	RKHTGNKPFHCHACGKSFPFQAILN	5.0	8.0	unscreened	-	4037_1:173855048-173855048 T>C_RKHTGNKPFHCHACGKSFPFQAILN
19:9084761-9084761 A>C	0.0	4037	LUNG	-	-	-	2	MUC16	ENST00000397910,p.S2352A|NM_024690,p.S2352A|uc002mkp.3,p.S2352A	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.T7054G	p.S2352A	TVSLDNETTVKTSDILDARKTNELP	TVSLDNETTVKTADILDARKTNELP	2.0	1.0	unscreened	-	4037_19:9084761-9084761 A>C_TVSLDNETTVKTADILDARKTNELP
6:132910294-132910294 T>C	0.0	4037	LUNG	-	-	-	-	TAAR5	uc003qdk.2,p.R178G|NM_003967,p.R178G|ENST00000258034,p.R178G	protein_coding	uc003qdk.2	nonsynonymous SNV	exon1	c.A532G	p.R178G	TSLFLYTDVVETRLSQWLEEMPCVG	TSLFLYTDVVETGLSQWLEEMPCVG	1.0	10.0	-	-	4037_6:132910294-132910294 T>C_TSLFLYTDVVETGLSQWLEEMPCVG
11:67372304-67372304 T>G	0.0	4037	LUNG	-	-	-	-	GSTP1,NDUFV1	ENST00000446232,p.Q79H|ENST00000333139,p.Q79H|uc001omi.1,p.Q79H	protein_coding	uc001omi.1	nonsynonymous SNV	exon2	c.A237C	p.Q79H	SVYQPPQPASRPQAKRYQGLLPVPL	SVYQPPQPASRPHAKRYQGLLPVPL	2.0	6.0	unscreened	-	4037_11:67372304-67372304 T>G_SVYQPPQPASRPHAKRYQGLLPVPL
12:49227104-49227104 T>C	1.0	4037	LUNG	-	-	-	-	DDX23	NM_004818,p.K587E|uc001rsm.3,p.K587E|ENST00000308025,p.K587E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rsm.3	nonsynonymous SNV	exon13	c.A1759G	p.K587E	QKPDTDEAEDPEKMLANFESGKHKY	QKPDTDEAEDPEEMLANFESGKHKY	9.0	10.0	-	-	4037_12:49227104-49227104 T>C_QKPDTDEAEDPEEMLANFESGKHKY
7:129939212-129939212 T>A	0.0	4037	LUNG	-	-	-	-	CPA4	uc011kpd.2,p.L85I|NM_001163446,p.L85I|ENST00000473956,p.L85I|ENST00000445470,p.L85I	retained_intron, protein_coding, nonsense_mediated_decay	uc011kpd.2	nonsynonymous SNV	exon3	c.T253A	p.L85I	LQAFKSFLRSQGLEYAVTIEDLQIY	LQAFKSFLRSQGIEYAVTIEDLQIY	5.0	3.0	unscreened	-	4037_7:129939212-129939212 T>A_LQAFKSFLRSQGIEYAVTIEDLQIY
11:62297082-62297082 T>C	1.0	4037	LUNG	-	-	-	-	AHNAK	uc001ntl.3,p.K1603E|ENST00000378024,p.K1603E|NM_001620,p.K1603E	protein_coding, processed_transcript	uc001ntl.3	nonsynonymous SNV	exon5	c.A4807G	p.K1603E	PKLKTDVDVSLPKVEGDLKGPEIDV	PKLKTDVDVSLPEVEGDLKGPEIDV	10.0	10.0	unscreened	-	4037_11:62297082-62297082 T>C_PKLKTDVDVSLPEVEGDLKGPEIDV
7:142658101-142658101 C>T	0.0	4037	LUNG	-	-	-	-	KEL	ENST00000467543,p.S86N|uc003wcb.3,p.S105N|NM_000420,p.S105N|ENST00000476829,p.S105N|ENST00000355265,p.S105N	retained_intron, protein_coding, processed_transcript	uc003wcb.3	nonsynonymous SNV	exon4	c.G314A	p.S105N	GNTSVAPCTDFFSFACGRAKETNNS	GNTSVAPCTDFFNFACGRAKETNNS	5.0	8.0	unscreened	-	4037_7:142658101-142658101 C>T_GNTSVAPCTDFFNFACGRAKETNNS
2:133542901-133542901 T>G	0.0	4037	LUNG	-	-	-	-	NCKAP5	ENST00000317721,p.S495R|uc002ttp.3,p.S495R|NM_207363,p.S495R|ENST00000409261,p.S495R	protein_coding, processed_transcript	uc002ttp.3	nonsynonymous SNV	exon14	c.A1483C	p.S495R	STLALLQAVPNQSCRPHGSKLTHSV	STLALLQAVPNQRCRPHGSKLTHSV	5.0	3.0	unscreened	-	4037_2:133542901-133542901 T>G_STLALLQAVPNQRCRPHGSKLTHSV
14:103336663-103336663 A>G	1.0	4037	LUNG	-	-	-	-	TRAF3	uc001ymd.2,p.K42R|NM_001199427,p.K42R|uc010txy.2,p.K42R|ENST00000351691,p.K42R|NM_145725,p.K42R|ENST00000560463,p.K42R|ENST00000347662,p.K42R|ENST00000560371,p.K42R|uc001yme.2,p.K42R|NM_145726,p.K42R|ENST00000392745,p.K42R|ENST00000539721,p.K42R|uc001ymc.2,p.K42R|NM_003300,p.K42R	retained_intron, protein_coding, nonsense_mediated_decay	uc010txy.2	nonsynonymous SNV	exon2	c.A125G	p.K42R	PVFVPEQGGYKEKFVKTVEDKYKCE	PVFVPEQGGYKERFVKTVEDKYKCE	7.0	5.0	unscreened	-	4037_14:103336663-103336663 A>G_PVFVPEQGGYKERFVKTVEDKYKCE
12:70953185-70953185 T>A	0.0	4037	LUNG	-	-	-	1	PTPRB	uc001swb.4,p.K1333M|ENST00000261266,p.K1333M|uc001swc.4,p.K1551M|NM_001206972,p.K1243M|NM_001206971,p.K1243M|ENST00000550358,p.K1463M|uc001swd.4,p.K1550M|uc001swa.4,p.K1463M|ENST00000538708,p.K1243M|uc010sto.2,p.K1243M|ENST00000451516,p.K1243M|uc009zrr.2,p.K1430M|ENST00000551525,p.K1550M|ENST00000550857,p.K1243M|NM_002837,p.K1333M|ENST00000334414,p.K1551M|uc010stp.2,p.K1243M|NM_001109754,p.K1551M	retained_intron, protein_coding, processed_transcript	uc010stp.2	nonsynonymous SNV	exon15	c.A3728T	p.K1243M	GLRPGRSYQFNVKTVSGDSWKTYSK	GLRPGRSYQFNVMTVSGDSWKTYSK	4.0	8.0	unscreened	-	4037_12:70953185-70953185 T>A_GLRPGRSYQFNVMTVSGDSWKTYSK
11:124179912-124179912 A>C	0.0	4037	LUNG	-	-	-	-	OR8D1	NM_001002917,p.F251V|uc010sag.2,p.F251V|ENST00000357821,p.F251V	protein_coding	uc010sag.2	nonsynonymous SNV	exon1	c.T751G	p.F251V	GTCSSHLMAVVIFFGSITFMYFKPP	GTCSSHLMAVVIVFGSITFMYFKPP	1.0	9.0	unscreened	-	4037_11:124179912-124179912 A>C_GTCSSHLMAVVIVFGSITFMYFKPP
7:129939212-129939212 T>A	0.0	4037	LUNG	-	-	-	-	CPA4	ENST00000492072,p.L85I|ENST00000470542,p.L85I|uc003vpr.3,p.L85I|NM_016352,p.L85I|ENST00000222482,p.L85I	retained_intron, protein_coding, nonsense_mediated_decay	uc003vpr.3	nonsynonymous SNV	exon3	c.T253A	p.L85I	LQAFKSFLRSQGLEYAVTIEDLQAL	LQAFKSFLRSQGIEYAVTIEDLQAL	5.0	3.0	unscreened	-	4037_7:129939212-129939212 T>A_LQAFKSFLRSQGIEYAVTIEDLQAL
21:46308628-46308628 A>G	0.0	4037	LUNG	-	-	-	-	ITGB2	uc011afl.1,p.I609T|NM_001127491,p.I687T|ENST00000397854,p.I630T|uc002zgd.2,p.I687T|ENST00000355153,p.I687T|ENST00000397852,p.I687T|uc002zgf.3,p.I687T|ENST00000397857,p.I687T|uc002zgg.2,p.I687T|ENST00000302347,p.I687T|NM_000211,p.I687T|ENST00000397850,p.I687T|uc010gpw.2,p.I630T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011afl.1	nonsynonymous SNV	exon14	c.T1826C	p.I609T	TLEQQDGMDRYLIYVDESRECVAGP	TLEQQDGMDRYLTYVDESRECVAGP	8.0	1.0	unscreened	-	4037_21:46308628-46308628 A>G_TLEQQDGMDRYLTYVDESRECVAGP
22:31283429-31283429 T>C	1.0	4037	LUNG	-	-	-	-	OSBP2	ENST00000382310,p.L375S|NM_001282741,p.L117S|uc003aiz.1,p.L375S|uc011alb.1,p.L375S|NM_001282738,p.L210S|uc011ala.1,p.L210S|uc010gwc.1,p.L202S|ENST00000407373,p.L202S|ENST00000446658,p.L375S|NM_001282739,p.L375S|ENST00000437268,p.L117S|ENST00000332585,p.L375S|ENST00000403222,p.L210S|NM_030758,p.L375S|uc003aiy.1,p.L375S|uc011alc.2,p.L117S	protein_coding, processed_transcript	uc011alc.2	nonsynonymous SNV	exon3	c.T350C	p.L117S	TSNAMINACRDFLELAEIHSRKWQR	TSNAMINACRDFSELAEIHSRKWQR	5.0	8.0	unscreened	-	4037_22:31283429-31283429 T>C_TSNAMINACRDFSELAEIHSRKWQR
17:3438950-3438950 A>G	0.0	4037	LUNG	-	-	-	-	TRPV3	uc010vrj.2,p.L218P|uc010vrl.2,p.L218P|uc002fvu.3,p.L234P|uc002fvt.2,p.L234P|ENST00000576742,p.L234P|NM_001258205,p.L234P|uc010vrh.2,p.L218P|uc002fvr.3,p.L234P|uc010vri.2,p.L189P|NM_145068,p.L234P|ENST00000572519,p.L234P|ENST00000301365,p.L234P	retained_intron, protein_coding, nonsense_mediated_decay	uc010vrl.2	nonsynonymous SNV	exon6	c.T653C	p.L218P	AIERRQGDIAALLIAAGADVNAHAK	AIERRQGDIAALPIAAGADVNAHAK	1.0	8.0	unscreened	-	4037_17:3438950-3438950 A>G_AIERRQGDIAALPIAAGADVNAHAK
6:28542494-28542494 C>A	0.0	4037	LUNG	-	-	-	-	ZBED9	NM_052923,p.S663I|ENST00000452236,p.S663I|uc003nlo.3,p.S663I	protein_coding, processed_transcript	uc003nlo.3	nonsynonymous SNV	exon3	c.G1988T	p.S663I	STMKRKHDEIQRSLPVKPSKMLKPS	STMKRKHDEIQRILPVKPSKMLKPS	1.0	10.0	unscreened	-	4037_6:28542494-28542494 C>A_STMKRKHDEIQRILPVKPSKMLKPS
19:40408285-40408285 G>C	1.0	4037	LUNG	-	-	-	-	FCGBP	NM_003890,p.H1518Q|ENST00000221347,p.H1518Q|uc002omp.4,p.H1518Q	protein_coding, processed_transcript	uc002omp.4	nonsynonymous SNV	exon8	c.C4554G	p.H1518Q	HAYVSACQAAGGHVEPWRTETFCPM	HAYVSACQAAGGQVEPWRTETFCPM	5.0	9.0	-	-	4037_19:40408285-40408285 G>C_HAYVSACQAAGGQVEPWRTETFCPM
3:130116640-130116640 A>G	0.0	4037	LUNG	-	-	-	-	COL6A5	ENST00000432398,p.Q1261R|ENST00000265379,p.Q1261R|NM_001278298,p.Q1261R|NM_153264,p.Q1261R|uc010htk.2,p.Q1261R|ENST00000312481,p.Q1261R|uc010htj.2,p.Q1261R	protein_coding, nonsense_mediated_decay	uc010htk.2	nonsynonymous SNV	exon9	c.A3782G	p.Q1261R	KVNSDQGFPAKFQIYQKAVFDSLLQ	KVNSDQGFPAKFRIYQKAVFDSLLQ	1.0	9.0	unscreened	-	4037_3:130116640-130116640 A>G_KVNSDQGFPAKFRIYQKAVFDSLLQ
9:74825605-74825605 G>T	0.0	4037	LUNG	-	-	-	-	GDA	ENST00000376989,p.R104S|NM_001242507,p.R55S|ENST00000545168,p.R55S|uc011lse.2,p.R55S|uc004air.3,p.R129S|uc004aiq.3,p.R129S|NM_001242506,p.R55S|uc004ait.1,p.R55S|NM_004293,p.R129S|ENST00000475764,p.R129S|uc004ais.3,p.R87S|ENST00000358399,p.R129S|NM_001242505,p.R129S|uc011lsf.2,p.R55S|ENST00000238018,p.R129S|ENST00000376986,p.R87S	protein_coding, processed_transcript, nonsense_mediated_decay	uc011lsf.2	nonsynonymous SNV	exon5	c.G165T	p.R55S	IDFAEEVYTRVVRRTLKNGTTTACY	IDFAEEVYTRVVSRTLKNGTTTACY	1.0	4.0	unscreened	-	4037_9:74825605-74825605 G>T_IDFAEEVYTRVVSRTLKNGTTTACY
11:64514769-64514769 T>C	1.0	4037	LUNG	-	-	-	-	PYGM	uc001oay.4,p.S659G|NM_005609,p.S747G|uc001oax.4,p.S747G|ENST00000377432,p.S659G|NM_001164716,p.S659G|ENST00000164139,p.S747G	retained_intron, protein_coding, processed_transcript	uc001oay.4	nonsynonymous SNV	exon16	c.A1975G	p.S659G	RIPELRQVIEQLSSGFFSPKQPDLF	RIPELRQVIEQLGSGFFSPKQPDLF	2.0	3.0	unscreened	-	4037_11:64514769-64514769 T>C_RIPELRQVIEQLGSGFFSPKQPDLF
8:145748055-145748055 T>G	1.0	4037	LUNG	-	-	-	-	LRRC24	NM_001024678,p.Y449S|ENST00000529415,p.Y449S|uc003zdm.3,p.Y449S|ENST00000533758,p.Y446S	protein_coding	uc003zdm.3	nonsynonymous SNV	exon5	c.A1346C	p.Y449S	GPPGEGALFVNDYLDGPCTFAQLEE	GPPGEGALFVNDSLDGPCTFAQLEE	6.0	4.0	unscreened	-	4037_8:145748055-145748055 T>G_GPPGEGALFVNDSLDGPCTFAQLEE
1:78178950-78178950 T>G	1.0	4037	LUNG	-	-	-	-	USP33	NM_015017,p.K775N|ENST00000370793,p.K775N|ENST00000357428,p.K775N|uc001dhs.3,p.K496N|uc001dhu.4,p.K744N|ENST00000370794,p.K744N|uc001dhv.3,p.K580N|ENST00000370792,p.K767N|NM_201626,p.K767N|NM_201624,p.K744N|uc001dhw.4,p.K767N|uc001dht.4,p.K775N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001dhw.4	nonsynonymous SNV	exon21	c.A2301C	p.K767N	DFLCIHGGVPPRKAGYIEDLVLMLP	DFLCIHGGVPPRNAGYIEDLVLMLP	8.0	6.0	unscreened	-	4037_1:78178950-78178950 T>G_DFLCIHGGVPPRNAGYIEDLVLMLP
6:41652626-41652626 A>T	0.0	4037	LUNG	-	-	-	1	TFEB	ENST00000406563,p.L239Q|ENST00000343317,p.L467Q|uc021yzl.1,p.L448Q|NM_001271943,p.L296Q|NM_001271945,p.L381Q|uc003oqt.2,p.L381Q|NM_007162,p.L381Q|uc003oqu.2,p.L395Q|uc003oqr.2,p.L296Q|NM_001167827,p.L395Q|NM_001271944,p.L381Q|ENST00000358871,p.L395Q|uc003oqs.1,p.L381Q|ENST00000403298,p.L381Q|uc031sop.1,p.L381Q|ENST00000373033,p.L381Q|ENST00000230323,p.L381Q|ENST00000420312,p.L296Q	retained_intron, protein_coding	uc031sop.1	nonsynonymous SNV	exon9	c.T1142A	p.L381Q	PEPLPALPPQAPLPLPTQPPSPFHH	PEPLPALPPQAPQPLPTQPPSPFHH	5.0	5.0	unscreened	-	4037_6:41652626-41652626 A>T_PEPLPALPPQAPQPLPTQPPSPFHH
17:7704988-7704988 A>G	1.0	4037	LUNG	-	-	-	-	DNAH2	uc002giu.1,p.E2931G|ENST00000572933,p.E2931G|NM_020877,p.E2931G|ENST00000389173,p.E2931G	retained_intron, protein_coding, nonsense_mediated_decay	uc002giu.1	nonsynonymous SNV	exon56	c.A8792G	p.E2931G	SEWPQEALLEVAEKCLIGVDLGTQE	SEWPQEALLEVAGKCLIGVDLGTQE	6.0	9.0	unscreened	-	4037_17:7704988-7704988 A>G_SEWPQEALLEVAGKCLIGVDLGTQE
20:62200910-62200910 G>A	0.0	4037	LUNG	-	-	-	-	HELZ2	ENST00000467148,p.R227C|NM_001037335,p.R227C|uc002yfm.2,p.R227C	retained_intron, protein_coding, processed_transcript	uc002yfm.2	nonsynonymous SNV	exon5	c.C679T	p.R227C	PPGRLYARGERFRVPSSTADFQVGV	PPGRLYARGERFCVPSSTADFQVGV	8.0	7.0	unscreened	-	4037_20:62200910-62200910 G>A_PPGRLYARGERFCVPSSTADFQVGV
X:41333230-41333230 C>T	0.0	4037	LUNG	-	-	-	-	NYX	ENST00000342595,p.P175L|uc004dfh.2,p.P175L|NM_022567,p.P175L|uc011mku.1,p.P175L|ENST00000378220,p.P175L	protein_coding, processed_transcript	uc011mku.1	nonsynonymous SNV	exon3	c.C524T	p.P175L	ELAAFDNLFRRVPGALRGLANLTHA	ELAAFDNLFRRVLGALRGLANLTHA	1.0	10.0	-	-	4037_X:41333230-41333230 C>T_ELAAFDNLFRRVLGALRGLANLTHA
13:25670791-25670791 A>T	0.0	4037	LUNG	-	-	-	-	PABPC3	uc001upy.3,p.E152V|NM_030979,p.E152V|ENST00000281589,p.E152V	protein_coding	uc001upy.3	nonsynonymous SNV	exon1	c.A455T	p.E152V	YGFVHFETHEAAERAIKKMNGMLLN	YGFVHFETHEAAVRAIKKMNGMLLN	9.0	9.0	unscreened	-	4037_13:25670791-25670791 A>T_YGFVHFETHEAAVRAIKKMNGMLLN
19:55378140-55378140 T>C	0.0	4037	LUNG	-	-	-	-	KIR3DL2	uc002qho.4,p.V441A|uc010esh.3,p.V424A|NM_006737,p.V441A|NM_001242867,p.V424A|ENST00000402254,p.V441A|uc002qhl.4,p.V441A|ENST00000326321,p.V441A|ENST00000270442,p.V424A	protein_coding	uc010esh.3	nonsynonymous SNV	exon8	c.T1271C	p.V424A	TELPNAEPRSKVVSCPRAPQSGLEG	TELPNAEPRSKVASCPRAPQSGLEG	2.0	1.0	unscreened	-	4037_19:55378140-55378140 T>C_TELPNAEPRSKVASCPRAPQSGLEG
1:203040828-203040828 A>C	0.0	4037	LUNG	-	-	-	-	PPFIA4	uc001gyz.3,p.Q605H|ENST00000272198,p.Q605H|NM_015053,p.Q605H|ENST00000414050,p.Q818H|ENST00000295706,p.Q596H|uc001gzb.1,p.Q291H|ENST00000599966,p.Q596H|uc001gzc.1,p.Q147H|ENST00000367240,p.Q1090H|uc001gza.3,p.Q596H|ENST00000447715,p.Q1089H|uc009xaj.3,p.Q1236H|uc010pqf.2,p.Q818H	retained_intron, protein_coding, processed_transcript	uc010pqf.2	nonsynonymous SNV	exon22	c.A2454C	p.Q818H	ILQIPTQNTQARQVMEREFNNLLAL	ILQIPTQNTQARHVMEREFNNLLAL	5.0	2.0	unscreened	-	4037_1:203040828-203040828 A>C_ILQIPTQNTQARHVMEREFNNLLAL
20:57009696-57009696 A>G	1.0	4037	LUNG	-	-	-	-	VAPB	ENST00000475243,p.S84G|NM_004738,p.S84G|uc002xza.3,p.S84G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002xza.3	nonsynonymous SNV	exon3	c.A250G	p.S84G	MLQPFDYDPNEKSKHKFMVQSMFAP	MLQPFDYDPNEKGKHKFMVQSMFAP	9.0	1.0	unscreened	-	4037_20:57009696-57009696 A>G_MLQPFDYDPNEKGKHKFMVQSMFAP
X:49081266-49081267 CT>-	0.0	4037	LUNG	-	-	-	-	CACNA1F	NM_001256790,p.S557fs|ENST00000376265,p.S622fs|ENST00000376251,p.S557fs|ENST00000323022,p.S611fs|uc004dnb.3,p.S622fs|NM_001256789,p.S611fs|uc010nip.3,p.S611fs|uc031tjm.1,p.S557fs|NM_005183,p.S622fs	retained_intron, protein_coding, processed_transcript	uc031tjm.1	frameshift deletion	exon14	c.1671_1672del	p.S557fs	LVEVGAMQPLGISVLRCVRLLRIFK	LVEVGAMQPLGISAPMCAPPQDL	1.0	4.0	unscreened	-	4037_X:49081266-49081267 CT>-_LVEVGAMQPLGISAPMCAPPQDL
7:43843397-43843397 G>C	1.0	4037	LUNG	-	-	-	-	BLVRA	uc010kxv.3,p.E195Q|NM_000712,p.E195Q|NM_001253823,p.E195Q|ENST00000402924,p.E195Q|ENST00000265523,p.E195Q|uc003tir.3,p.E195Q	retained_intron, protein_coding	uc010kxv.3	nonsynonymous SNV	exon8	c.G583C	p.E195Q	LSLVSATLEERKEDQYMKMTVCLET	LSLVSATLEERKQDQYMKMTVCLET	10.0	3.0	-	-	4037_7:43843397-43843397 G>C_LSLVSATLEERKQDQYMKMTVCLET
1:43783039-43783039 A>C	0.0	4037	LUNG	-	-	-	-	TIE1	NM_001253357,p.K815T|ENST00000433781,p.K505T|uc009vwq.3,p.K816T|uc001ciu.3,p.K860T|uc010oke.2,p.K815T|NM_005424,p.K860T|ENST00000372476,p.K860T|uc010okg.2,p.K505T	protein_coding, processed_transcript	uc010okg.2	nonsynonymous SNV	exon10	c.A1514C	p.K505T	GNFGQVIRAMIKKDGLKMNAAIKML	GNFGQVIRAMIKTDGLKMNAAIKML	6.0	4.0	unscreened	-	4037_1:43783039-43783039 A>C_GNFGQVIRAMIKTDGLKMNAAIKML
1:155020306-155020306 G>C	0.0	4037	LUNG	-	-	-	-	DCST1	ENST00000423025,p.W527C|ENST00000368419,p.W552C|ENST00000392480,p.W552C|NM_152494,p.W552C|ENST00000295542,p.W552C|uc001fgn.2,p.W552C|NM_001143687,p.W527C|uc010pes.2,p.W527C	retained_intron, protein_coding, nonsense_mediated_decay	uc010pes.2	nonsynonymous SNV	exon14	c.G1581C	p.W527C	LPQPVGLDARAYWRAAVPIGLLVCL	LPQPVGLDARAYCRAAVPIGLLVCL	1.0	1.0	unscreened	-	4037_1:155020306-155020306 G>C_LPQPVGLDARAYCRAAVPIGLLVCL
17:33884561-33884561 T>G	0.0	4037	LUNG	-	-	-	-	SLFN14	ENST00000415846,p.N174T|uc010ctu.1,p.N174T|NM_001129820,p.N174T	protein_coding	uc010ctu.1	nonsynonymous SNV	exon1	c.A521C	p.N174T	PRVKKLHPQQVLNRCIQEEEDMRIL	PRVKKLHPQQVLTRCIQEEEDMRIL	1.0	1.0	unscreened	-	4037_17:33884561-33884561 T>G_PRVKKLHPQQVLTRCIQEEEDMRIL
6:27368351-27368351 A>C	1.0	4037	LUNG	-	-	-	-	ZNF391	NM_001076781,p.S68R|uc021ypw.1,p.S68R|uc003njf.1,p.S68R|ENST00000461521,p.S68R|ENST00000244576,p.S68R	protein_coding, processed_transcript	uc021ypw.1	nonsynonymous SNV	exon1	c.A202C	p.S68R	GEEGPESSEFSLSPNLDAQQKIPKG	GEEGPESSEFSLRPNLDAQQKIPKG	5.0	8.0	unscreened	-	4037_6:27368351-27368351 A>C_GEEGPESSEFSLRPNLDAQQKIPKG
7:120935644-120935644 A>C	0.0	4037	LUNG	-	-	-	-	CPED1	uc003vjq.4,p.I1007L|ENST00000310396,p.I1007L|NM_024913,p.I1007L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003vjq.4	nonsynonymous SNV	exon23	c.A3019C	p.I1007L	TNFRSPYHVRGPINQVCSEILLSRM	TNFRSPYHVRGPLNQVCSEILLSRM	4.0	1.0	unscreened	-	4037_7:120935644-120935644 A>C_TNFRSPYHVRGPLNQVCSEILLSRM
17:74397095-74397095 T>A	0.0	4037	LUNG	-	-	-	-	UBE2O	NM_022066,p.E297D|ENST00000319380,p.E297D|uc002jrn.4,p.E297D|uc002jrm.4,p.E297D	retained_intron, protein_coding, processed_transcript	uc002jrn.4	nonsynonymous SNV	exon6	c.A891T	p.E297D	VLSTKSKFRVVVEEVQVVELKVTWI	VLSTKSKFRVVVDEVQVVELKVTWI	7.0	2.0	unscreened	-	4037_17:74397095-74397095 T>A_VLSTKSKFRVVVDEVQVVELKVTWI
1:167088515-167088515 A>T	0.0	4037	LUNG	-	-	-	-	DUSP27	uc001geb.1,p.K156M|ENST00000361200,p.K156M|NM_001080426,p.K156M|ENST00000443333,p.K156M|ENST00000271385,p.K156M	protein_coding, processed_transcript	uc001geb.1	nonsynonymous SNV	exon4	c.A467T	p.K156M	AEKSVAVNKGRLKRLGITHILNAAH	AEKSVAVNKGRLMRLGITHILNAAH	3.0	3.0	unscreened	-	4037_1:167088515-167088515 A>T_AEKSVAVNKGRLMRLGITHILNAAH
19:53456012-53456012 T>G	0.0	4037	LUNG	-	-	-	-	ZNF816,ZNF816-ZNF321P	uc002qal.2,p.E61A|ENST00000357666,p.E61A|uc002qam.2,p.E61A|ENST00000457013,p.E61A|uc021uzc.1,p.E61A|NM_001202457,p.E61A|NM_001031665,p.E61A|NM_001202456,p.E61A|ENST00000444460,p.E61A	protein_coding	uc021uzc.1	nonsynonymous SNV	exon3	c.A182C	p.E61A	YRAVMLENYRNLEFVDSSLKSMMEF	YRAVMLENYRNLAFVDSSLKSMMEF	7.0	1.0	unscreened	-	4037_19:53456012-53456012 T>G_YRAVMLENYRNLAFVDSSLKSMMEF
17:56272347-56272347 T>C	0.0	4037	LUNG	0.0005	-	-	-	EPX	ENST00000225371,p.I206T|NM_000502,p.I206T|uc002ivq.3,p.I206T	protein_coding	uc002ivq.3	nonsynonymous SNV	exon6	c.T617C	p.I206T	FLLPLVRAVSNQIVRFPNERLTSDR	FLLPLVRAVSNQTVRFPNERLTSDR	1.0	9.0	unscreened	-	4037_17:56272347-56272347 T>C_FLLPLVRAVSNQTVRFPNERLTSDR
3:184100451-184100451 G>A	0.0	4037	LUNG	-	-	-	-	CHRD	ENST00000204604,p.G291S|ENST00000348986,p.G291S|NM_003741,p.G291S|uc003fov.3,p.G291S|ENST00000420973,p.G291S|uc003fox.3,p.G291S|ENST00000450923,p.G291S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003fox.3	nonsynonymous SNV	exon8	c.G871A	p.G291S	AAETFSAILTLEGPPQQGVGGITLL	AAETFSAILTLESPPQQGVGGITLL	5.0	10.0	-	-	4037_3:184100451-184100451 G>A_AAETFSAILTLESPPQQGVGGITLL
17:43923845-43923845 T>G	0.0	4037	LUNG	-	-	-	-	SPPL2C	ENST00000329196,p.F525V|NM_175882,p.F525V|uc010wka.2,p.F525V	protein_coding	uc010wka.2	nonsynonymous SNV	exon1	c.T1573G	p.F525V	LAVAACRQELSLFWTGQGRAKMCGL	LAVAACRQELSLVWTGQGRAKMCGL	1.0	5.0	unscreened	-	4037_17:43923845-43923845 T>G_LAVAACRQELSLVWTGQGRAKMCGL
10:93604693-93604693 G>C	1.0	4037	LUNG	-	-	-	-	TNKS2	NM_025235,p.E693Q|ENST00000371627,p.E693Q|uc001khp.3,p.E693Q	protein_coding	uc001khp.3	nonsynonymous SNV	exon17	c.G2077C	p.E693Q	TPLHLAAGYNNLEVAEYLLQHGADV	TPLHLAAGYNNLQVAEYLLQHGADV	7.0	9.0	-	-	4037_10:93604693-93604693 G>C_TPLHLAAGYNNLQVAEYLLQHGADV
3:127396570-127396570 T>G	1.0	4037	LUNG	-	-	-	-	ABTB1	ENST00000453791,p.F163V|uc003ejt.3,p.F305V|ENST00000393363,p.F163V|uc003eju.3,p.F163V|uc003ejs.3,p.F280V|ENST00000232744,p.F305V|ENST00000468137,p.F163V|NM_172027,p.F305V|uc003ejr.3,p.F163V|NM_032548,p.F163V|uc010hsm.3,p.F32V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hsm.3	nonsynonymous SNV	exon3	c.T94G	p.F32V	RSDYFRALLDDHFRESEEPATSGGP	RSDYFRALLDDHVRESEEPATSGGP	7.0	1.0	unscreened	-	4037_3:127396570-127396570 T>G_RSDYFRALLDDHVRESEEPATSGGP
3:12583435-12583435 T>C	1.0	4037	LUNG	-	-	-	-	MKRN2OS	uc021wtc.1,p.N119D|ENST00000564146,p.N119D|NM_001195279,p.N119D	protein_coding, processed_transcript, nonsense_mediated_decay	uc021wtc.1	nonsynonymous SNV	exon3	c.A355G	p.N119D	WEESISIPLLQPNMYGMMEQWDKYL	WEESISIPLLQPDMYGMMEQWDKYL	4.0	10.0	unscreened	-	4037_3:12583435-12583435 T>C_WEESISIPLLQPDMYGMMEQWDKYL
11:121454185-121454185 A>G	0.0	4037	LUNG	0.0005	-	-	-	SORL1	uc001pxx.3,p.E1200G|uc010rzp.1,p.E46G|NM_003105,p.E1200G|ENST00000532694,p.E46G|ENST00000534286,p.E110G|ENST00000260197,p.E1200G|ENST00000525532,p.E144G	retained_intron, protein_coding, processed_transcript	uc010rzp.1	nonsynonymous SNV	exon3	c.A137G	p.E46G	DEANCTAIYHTCEASNFQCRNGHCI	DEANCTAIYHTCGASNFQCRNGHCI	6.0	1.0	unscreened	-	4037_11:121454185-121454185 A>G_DEANCTAIYHTCGASNFQCRNGHCI
3:100009502-100009502 T>G	0.0	4037	LUNG	-	-	-	-	TBC1D23	uc003dtt.4,p.L186R|ENST00000475134,p.L49R|ENST00000344949,p.L186R|uc003dts.4,p.L186R|NM_001199198,p.L186R|ENST00000394144,p.L186R|NM_018309,p.L186R	retained_intron, protein_coding, processed_transcript	uc003dtt.4	nonsynonymous SNV	exon5	c.T557G	p.L186R	LIQYHEPELCSYLDTKKITPDSYAL	LIQYHEPELCSYRDTKKITPDSYAL	8.0	6.0	unscreened	-	4037_3:100009502-100009502 T>G_LIQYHEPELCSYRDTKKITPDSYAL
2:32836588-32836588 A>T	1.0	4037	LUNG	-	-	-	2	BIRC6	NM_016252,p.Q4778L|uc010ezu.3,p.Q4778L|ENST00000421745,p.Q4778L	retained_intron, protein_coding, nonsense_mediated_decay	uc010ezu.3	nonsynonymous SNV	exon73	c.A14333T	p.Q4778L	IMAQCEEWIADIQQYSSDKRVGRTM	IMAQCEEWIADILQYSSDKRVGRTM	8.0	10.0	-	-	4037_2:32836588-32836588 A>T_IMAQCEEWIADILQYSSDKRVGRTM
14:23885322-23885322 T>G	0.0	4037	LUNG	-	-	-	-	MYH7	ENST00000355349,p.K1615T|NM_000257,p.K1615T|uc001wjx.3,p.K1615T	protein_coding	uc001wjx.3	nonsynonymous SNV	exon34	c.A4844C	p.K1615T	AETRSRNEALRVKKKMEGDLNEMEI	AETRSRNEALRVTKKMEGDLNEMEI	1.0	6.0	unscreened	-	4037_14:23885322-23885322 T>G_AETRSRNEALRVTKKMEGDLNEMEI
19:15292592-15292592 A>G	0.0	4037	LUNG	-	-	-	-	NOTCH3	ENST00000263388,p.S863P|NM_000435,p.S863P|uc002nan.3,p.S863P	retained_intron, protein_coding, nonsense_mediated_decay	uc002nan.3	nonsynonymous SNV	exon17	c.T2587C	p.S863P	NDCDPNPCLNGGSCQDGVGSFSCSC	NDCDPNPCLNGGPCQDGVGSFSCSC	8.0	7.0	unscreened	-	4037_19:15292592-15292592 A>G_NDCDPNPCLNGGPCQDGVGSFSCSC
2:120404584-120404584 T>G	0.0	4037	LUNG	-	-	-	-	CFAP221	uc002tmb.4,p.L474R|uc031rou.1,p.L759R|NM_001271049,p.L759R|ENST00000602047,p.L473R|ENST00000413369,p.L759R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rou.1	nonsynonymous SNV	exon22	c.T2276G	p.L759R	NSFMLPIDVPAILDALPEEDRLETV	NSFMLPIDVPAIRDALPEEDRLETV	2.0	2.0	unscreened	-	4037_2:120404584-120404584 T>G_NSFMLPIDVPAIRDALPEEDRLETV
13:52523853-52523853 A>T	0.0	4037	LUNG	-	-	-	-	ATP7B	NM_001243182,p.V826E|ENST00000400366,p.V826E|ENST00000418097,p.V937E|ENST00000242839,p.V937E|uc010adv.2,p.V507E|uc010tgv.1,p.V859E|uc010tgu.1,p.V889E|ENST00000448424,p.V859E|uc010tgt.1,p.V937E|uc010tgs.1,p.V209E|ENST00000417240,p.V209E|ENST00000400370,p.V507E|uc001vfw.2,p.V937E|NM_000053,p.V937E|uc001vfy.2,p.V826E|uc001vfv.2,p.V209E	protein_coding, processed_transcript	uc010tgv.1	nonsynonymous SNV	exon11	c.T2576A	p.V859E	VPFIIIMSTLTLVVWIVIGFIDFGV	VPFIIIMSTLTLEVWIVIGFIDFGV	4.0	3.0	unscreened	-	4037_13:52523853-52523853 A>T_VPFIIIMSTLTLEVWIVIGFIDFGV
19:10676487-10676487 ->CC	0.0	4037	LUNG	-	-	-	-	KRI1	uc002mox.1,p.A27fs|ENST00000361821,p.A27fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mox.1	frameshift insertion	exon1	c.79_80insGG	p.A27fs	GVEWPRRLTWGGASRLCPAVKDRYG	GVEWPRRLTWGGGHPVCVPQ	8.0	3.0	unscreened	-	4037_19:10676487-10676487 ->CC_GVEWPRRLTWGGGHPVCVPQ
6:111695471-111695471 T>C	1.0	4037	LUNG	-	-	-	-	REV3L	uc003puz.4,p.N1285D|NM_001286431,p.N1285D|ENST00000368805,p.N1363D|uc003puy.4,p.N1363D|NM_001286432,p.N1285D|ENST00000368802,p.N1363D|ENST00000435970,p.N1285D|ENST00000358835,p.N1363D|NM_002912,p.N1363D|uc003pux.4,p.N1285D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003puz.4	nonsynonymous SNV	exon15	c.A3853G	p.N1285D	STLIQKNIFDLSNHLSQVAQNTQIS	STLIQKNIFDLSDHLSQVAQNTQIS	5.0	9.0	unscreened	-	4037_6:111695471-111695471 T>C_STLIQKNIFDLSDHLSQVAQNTQIS
7:100678012-100678012 T>A	0.0	4037	LUNG	-	-	-	-	MUC17	uc003uxp.1,p.S1105R|NM_001040105,p.S1105R|ENST00000306151,p.S1105R|ENST00000379439,p.S1105R	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.T3315A	p.S1105R	TSTYSEGSTPLTSVPVSTRLVVSSE	TSTYSEGSTPLTRVPVSTRLVVSSE	1.0	6.0	unscreened	-	4037_7:100678012-100678012 T>A_TSTYSEGSTPLTRVPVSTRLVVSSE
3:49160996-49160996 T>G	1.0	4037	LUNG	-	-	-	-	LAMB2	ENST00000305544,p.E1289A|uc003cwe.3,p.E1289A|NM_002292,p.E1289A|ENST00000418109,p.E1289A	retained_intron, protein_coding, processed_transcript	uc003cwe.3	nonsynonymous SNV	exon25	c.A3866C	p.E1289A	TQLEADLTDVQDENFNANHALSGLE	TQLEADLTDVQDANFNANHALSGLE	10.0	5.0	unscreened	-	4037_3:49160996-49160996 T>G_TQLEADLTDVQDANFNANHALSGLE
19:10403850-10403850 T>C	0.0	4037	LUNG	-	-	-	-	ICAM5	uc002mnv.4,p.S340P|NM_003259,p.S465P|ENST00000221980,p.S465P|uc002mnu.4,p.S465P	retained_intron, protein_coding, processed_transcript	uc002mnv.4	nonsynonymous SNV	exon4	c.T1018C	p.S340P	ALGLLGPVTRALSGTYRCKAANDQG	ALGLLGPVTRALPGTYRCKAANDQG	3.0	7.0	unscreened	-	4037_19:10403850-10403850 T>C_ALGLLGPVTRALPGTYRCKAANDQG
1:87031034-87031034 T>G	0.0	4037	LUNG	-	-	-	-	CLCA4	NM_012128,p.I212S|uc009wcu.3,p.I32S|ENST00000370563,p.I212S|uc009wcs.3,p.I212S	protein_coding, processed_transcript	uc009wcu.3	nonsynonymous SNV	exon3	c.T95G	p.I32S	CQGGSCLSRACRIDSTTKLYGKDCQ	CQGGSCLSRACRSDSTTKLYGKDCQ	1.0	4.0	unscreened	-	4037_1:87031034-87031034 T>G_CQGGSCLSRACRSDSTTKLYGKDCQ
19:56223250-56223250 A>C	0.0	4037	LUNG	-	-	-	-	NLRP9	ENST00000332836,p.L920R|uc002qly.3,p.L920R|ENST00000590200,p.L920R|NM_176820,p.L920R	protein_coding	uc002qly.3	nonsynonymous SNV	exon8	c.T2759G	p.L920R	ALIACKTLRSLNLDWIALDADAVVV	ALIACKTLRSLNRDWIALDADAVVV	1.0	6.0	unscreened	-	4037_19:56223250-56223250 A>C_ALIACKTLRSLNRDWIALDADAVVV
1:169510154-169510154 G>C	0.0	4037	LUNG	-	-	-	-	F5	ENST00000367796,p.P1397A|uc001ggg.1,p.P1392A|NM_000130,p.P1392A|ENST00000367797,p.P1392A	protein_coding, processed_transcript	uc001ggg.1	nonsynonymous SNV	exon13	c.C4174G	p.P1392A	SQTNLSPDLSEMPLFADLSQIPLTP	SQTNLSPDLSEMALFADLSQIPLTP	3.0	9.0	unscreened	-	4037_1:169510154-169510154 G>C_SQTNLSPDLSEMALFADLSQIPLTP
1:21902363-21902363 C>A	0.0	4037	LUNG	-	-	-	-	ALPL	ENST00000374829,p.H25N|uc010odp.2,p.H302N|NM_001127501,p.H324N|uc001beu.4,p.H379N|uc010odo.2,p.H324N|ENST00000425315,p.H379N|ENST00000374840,p.H379N|ENST00000374832,p.H379N|NM_000478,p.H379N|ENST00000540617,p.H324N|ENST00000539907,p.H302N|ENST00000374830,p.H25N|uc001bet.3,p.H379N|NM_001177520,p.H302N|uc010odn.2,p.H327N	protein_coding, processed_transcript	uc010odp.2	nonsynonymous SNV	exon8	c.C904A	p.H302N	SSEDTLTVVTADHSHVFTFGGYTPR	SSEDTLTVVTADNSHVFTFGGYTPR	4.0	3.0	unscreened	-	4037_1:21902363-21902363 C>A_SSEDTLTVVTADNSHVFTFGGYTPR
10:49951309-49951309 G>T	0.0	4037	LUNG	-	-	-	-	WDFY4	NM_020945,p.E725D|uc001jha.4,p.E725D|ENST00000413659,p.E725D|ENST00000325239,p.E725D	protein_coding, processed_transcript	uc001jha.4	nonsynonymous SNV	exon12	c.G2175T	p.E725D	EDLCLLGCFGALEEEGNLLRSWVDT	EDLCLLGCFGALDEEGNLLRSWVDT	5.0	1.0	unscreened	-	4037_10:49951309-49951309 G>T_EDLCLLGCFGALDEEGNLLRSWVDT
19:15651446-15651446 T>C	0.0	4037	LUNG	-	-	-	-	CYP4F22	uc002nbh.4,p.L286P|ENST00000601005,p.L286P|NM_173483,p.L286P|ENST00000269703,p.L286P	protein_coding	uc002nbh.4	nonsynonymous SNV	exon8	c.T857C	p.L286P	FTTEVIQERRRALRQQGAEAWLKAK	FTTEVIQERRRAPRQQGAEAWLKAK	2.0	6.0	unscreened	-	4037_19:15651446-15651446 T>C_FTTEVIQERRRAPRQQGAEAWLKAK
6:4133936-4133936 C>G	0.0	4037	LUNG	-	-	-	-	ECI2;ECI2	ENST00000495548,p.Q67H	-	ENST00000495548	nonsynonymous SNV	exon2	c.G201C	p.Q67H	GAKRRLLKASSLQVTSFPVVQLHMN	GAKRRLLKASSLHVTSFPVVQLHMN	1.0	1.0	unscreened	-	4037_6:4133936-4133936 C>G_GAKRRLLKASSLHVTSFPVVQLHMN
1:225147915-225147915 A>C	1.0	4037	LUNG	-	-	-	-	DNAH14	NM_001145154,p.K93T|uc001hov.4,p.K93T|uc001how.2,p.K93T|uc001hot.4,p.K93T|ENST00000430092,p.K93T|uc001hou.4,p.K93T|ENST00000400952,p.K93T|ENST00000366849,p.K93T|ENST00000439375,p.K93T|ENST00000366848,p.K93T|NM_001373,p.K93T|ENST00000366850,p.K93T|NM_144989,p.K93T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001how.2	nonsynonymous SNV	exon4	c.A278C	p.K93T	QQHMVSPEPASLKEKGKSRRKKDQT	QQHMVSPEPASLTEKGKSRRKKDQT	6.0	5.0	unscreened	-	4037_1:225147915-225147915 A>C_QQHMVSPEPASLTEKGKSRRKKDQT
20:419916-419916 T>G	1.0	4037	LUNG	-	-	-	-	TBC1D20	uc002wdv.3,p.E87D|NM_144628,p.E264D|ENST00000461304,p.E264D|uc002wds.3,p.E264D|ENST00000354200,p.E264D	protein_coding, processed_transcript, nonsense_mediated_decay	uc002wdv.3	nonsynonymous SNV	exon6	c.A261C	p.E87D	YFAAVIVLYREQEVLDCDCDMASVH	YFAAVIVLYREQDVLDCDCDMASVH	8.0	1.0	unscreened	-	4037_20:419916-419916 T>G_YFAAVIVLYREQDVLDCDCDMASVH
8:37791974-37791974 T>C	0.0	4037	LUNG	-	-	-	-	GOT1L1	uc011lbj.1,p.K368R|NM_152413,p.K368R|ENST00000307599,p.K368R	protein_coding	uc011lbj.1	nonsynonymous SNV	exon9	c.A1103G	p.K368R	LNSQQVEYLVRKKHIYIPKNGQINF	LNSQQVEYLVRKRHIYIPKNGQINF	1.0	1.0	unscreened	-	4037_8:37791974-37791974 T>C_LNSQQVEYLVRKRHIYIPKNGQINF
11:4936139-4936139 G>A	0.0	4037	LUNG	-	-	-	-	OR51G2	ENST00000322013,p.A252V|uc001lzr.1,p.A252V|NM_001005238,p.A252V	protein_coding	uc001lzr.1	nonsynonymous SNV	exon1	c.C755T	p.A252V	FKALNTCVSHICAVLLFYTPMIGLS	FKALNTCVSHICVVLLFYTPMIGLS	1.0	10.0	unscreened	-	4037_11:4936139-4936139 G>A_FKALNTCVSHICVVLLFYTPMIGLS
3:37826567-37826567 A>G	0.0	4037	LUNG	-	-	-	-	ITGA9	uc003chd.3,p.T963A|NM_002207,p.T963A|ENST00000264741,p.T963A	retained_intron, protein_coding	uc003chd.3	nonsynonymous SNV	exon26	c.A2887G	p.T963A	VVEIAHGNPEEVTVVFEALHNLEPR	VVEIAHGNPEEVAVVFEALHNLEPR	5.0	3.0	unscreened	-	4037_3:37826567-37826567 A>G_VVEIAHGNPEEVAVVFEALHNLEPR
11:56019969-56019969 C>G	0.0	4037	LUNG	-	-	-	-	OR5T3	uc010rjd.2,p.F98L|NM_001004747,p.F98L|ENST00000303059,p.F98L	protein_coding	uc010rjd.2	nonsynonymous SNV	exon1	c.C294G	p.F98L	HNPMYYFLSVLSFLDACYSTVVTPK	HNPMYYFLSVLSLLDACYSTVVTPK	1.0	8.0	unscreened	-	4037_11:56019969-56019969 C>G_HNPMYYFLSVLSLLDACYSTVVTPK
19:15292592-15292592 A>G	0.0	4037	LUNG	-	-	-	-	NOTCH3	ENST00000601011,p.S810P|uc002nao.1,p.S811P	retained_intron, protein_coding, nonsense_mediated_decay	uc002nao.1	nonsynonymous SNV	exon16	c.T2431C	p.S811P	PQGWQDPCLNGGSCQDGVGSFSCSC	PQGWQDPCLNGGPCQDGVGSFSCSC	8.0	7.0	unscreened	-	4037_19:15292592-15292592 A>G_PQGWQDPCLNGGPCQDGVGSFSCSC
12:101738509-101738509 G>C	1.0	4037	LUNG	-	-	-	-	UTP20	uc001tia.1,p.G1529A|ENST00000261637,p.G1529A|NM_014503,p.G1529A	retained_intron, protein_coding	uc001tia.1	nonsynonymous SNV	exon36	c.G4586C	p.G1529A	IIHRSLLEKLRKGLKSQTESIQQDY	IIHRSLLEKLRKALKSQTESIQQDY	4.0	10.0	unscreened	-	4037_12:101738509-101738509 G>C_IIHRSLLEKLRKALKSQTESIQQDY
1:186957606-186957606 T>C	0.0	4037	LUNG	-	-	-	-	PLA2G4A	uc001gsc.3,p.F739S|ENST00000442353,p.F679S|ENST00000367466,p.F739S|NM_024420,p.F739S|uc010pos.2,p.F679S	protein_coding, processed_transcript	uc010pos.2	nonsynonymous SNV	exon16	c.T2036C	p.F679S	SVSLSNVEARRFFNKEFLSKPKA	SVSLSNVEARRFSNKEFLSKPKA	3.0	10.0	unscreened	-	4037_1:186957606-186957606 T>C_SVSLSNVEARRFSNKEFLSKPKA
12:110825568-110825568 T>C	0.0	4037	LUNG	-	-	-	-	ANAPC7	NM_001137664,p.N251S|NM_016238,p.N251S|uc001tqp.4,p.N251S|ENST00000455511,p.N251S|uc001tqo.2,p.N251S|ENST00000450008,p.N251S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001tqp.4	nonsynonymous SNV	exon5	c.A752G	p.N251S	WIKAYAFVHTGDNSRAISTICSLEK	WIKAYAFVHTGDSSRAISTICSLEK	10.0	5.0	unscreened	-	4037_12:110825568-110825568 T>C_WIKAYAFVHTGDSSRAISTICSLEK
12:55846545-55846545 T>C	0.0	4037	LUNG	-	-	-	-	OR6C2	uc001sgz.1,p.L183P|ENST00000322678,p.L183P|NM_054105,p.L183P	protein_coding	uc001sgz.1	nonsynonymous SNV	exon1	c.T548C	p.L183P	AIDHFSCDAGPLLKISCSDTWVIEQ	AIDHFSCDAGPLPKISCSDTWVIEQ	1.0	7.0	unscreened	-	4037_12:55846545-55846545 T>C_AIDHFSCDAGPLPKISCSDTWVIEQ
8:145169257-145169257 A>G	0.0	4037	LUNG	-	-	-	-	KIAA1875	ENST00000323662,p.D1224G|uc011lkz.1,p.D37G	retained_intron, protein_coding, nonsense_mediated_decay	uc011lkz.1	nonsynonymous SNV	exon2	c.A110G	p.D37G	LLVALLEKTTWVDRVHILQVLLRLL	LLVALLEKTTWVGRVHILQVLLRLL	4.0	1.0	unscreened	-	4037_8:145169257-145169257 A>G_LLVALLEKTTWVGRVHILQVLLRLL
21:42749839-42749839 G>C	0.0	4037	LUNG	-	-	-	-	MX2	ENST00000543692,p.G125R|NM_002463,p.G125R|ENST00000330714,p.G125R|uc002yzf.1,p.G125R	retained_intron, protein_coding, processed_transcript	uc002yzf.1	nonsynonymous SNV	exon3	c.G373C	p.G125R	EQDLALPAIAVIGDQSSGKSSVLEA	EQDLALPAIAVIRDQSSGKSSVLEA	8.0	1.0	unscreened	-	4037_21:42749839-42749839 G>C_EQDLALPAIAVIRDQSSGKSSVLEA
20:37580751-37580751 A>T	1.0	4037	LUNG	-	-	-	-	FAM83D	uc002xjg.3,p.N479I|ENST00000217429,p.N479I|NM_030919,p.N479I	protein_coding	uc002xjg.3	nonsynonymous SNV	exon4	c.A1436T	p.N479I	SRSTTTQTDMDENILFPRGTQSTEG	SRSTTTQTDMDEIILFPRGTQSTEG	9.0	7.0	unscreened	-	4037_20:37580751-37580751 A>T_SRSTTTQTDMDEIILFPRGTQSTEG
12:57390070-57390070 T>G	0.0	4037	LUNG	-	-	-	-	GPR182	ENST00000300098,p.H359Q|uc001smk.3,p.H359Q|uc021qzf.1,p.H359Q|NM_007264,p.H359Q	protein_coding	uc021qzf.1	nonsynonymous SNV	exon1	c.T1077G	p.H359Q	GTCASSSSCSTQHSIIITKGDSQPA	GTCASSSSCSTQQSIIITKGDSQPA	1.0	1.0	unscreened	-	4037_12:57390070-57390070 T>G_GTCASSSSCSTQQSIIITKGDSQPA
13:111372004-111372004 C>T	1.0	4037	LUNG	-	-	-	-	ING1	NM_198217,p.R145C|NM_005537,p.R332C|uc031qni.1,p.R172C|uc001vri.3,p.R332C|ENST00000375774,p.R332C|ENST00000333219,p.R189C|uc001vrf.4,p.R145C|NM_198218,p.R120C|uc021rmo.1,p.R120C|uc001vrg.3,p.R120C|ENST00000338450,p.R145C|NM_001267728,p.R172C|NM_198219,p.R189C|ENST00000375775,p.R120C|uc001vrh.4,p.R189C	protein_coding, processed_transcript	uc031qni.1	nonsynonymous SNV	exon2	c.C514T	p.R172C	KEKKAKTSKKKKRSKAKAEREASPA	KEKKAKTSKKKKCSKAKAEREASPA	8.0	9.0	unscreened	-	4037_13:111372004-111372004 C>T_KEKKAKTSKKKKCSKAKAEREASPA
11:4471154-4471154 C>G	0.0	4037	LUNG	-	-	-	-	OR52K2	NM_001005172,p.S195R|ENST00000325719,p.S195R|uc001lyz.2,p.S195R	protein_coding	uc001lyz.2	nonsynonymous SNV	exon1	c.C585G	p.S195R	HMAVVRLACGDTSFNNIYGIAVAMF	HMAVVRLACGDTRFNNIYGIAVAMF	1.0	7.0	unscreened	-	4037_11:4471154-4471154 C>G_HMAVVRLACGDTRFNNIYGIAVAMF
6:138753128-138753128 T>G	0.0	4037	LUNG	-	-	-	-	NHSL1	NM_001144060,p.D785A|ENST00000427025,p.D789A|uc011edp.2,p.D785A|uc003qhx.3,p.D789A|NM_020464,p.D789A|ENST00000343505,p.D785A	retained_intron, protein_coding, processed_transcript	uc011edp.2	nonsynonymous SNV	exon6	c.A2354C	p.D785A	KSEYTDPWGYYIDYTGMQEDPGNPA	KSEYTDPWGYYIAYTGMQEDPGNPA	6.0	3.0	unscreened	-	4037_6:138753128-138753128 T>G_KSEYTDPWGYYIAYTGMQEDPGNPA
16:19884107-19884107 A>G	0.0	4037	LUNG	-	-	-	-	GPRC5B	ENST00000535671,p.F21L|ENST00000570142,p.F21L|ENST00000566822,p.F21L|ENST00000569479,p.F21L|ENST00000568214,p.F21L|ENST00000562469,p.F21L|ENST00000569847,p.F21L|ENST00000300571,p.F21L|uc002dgt.3,p.F21L|uc021tef.1,p.F13L|ENST00000537135,p.F47L|NM_016235,p.F21L|uc010vav.2,p.F47L	retained_intron, protein_coding, processed_transcript	uc021tef.1	nonsynonymous SNV	exon1	c.T37C	p.F13L	MRAHQVLTFLLLFVITSVASENAST	MRAHQVLTFLLLLVITSVASENAST	8.0	1.0	unscreened	-	4037_16:19884107-19884107 A>G_MRAHQVLTFLLLLVITSVASENAST
19:37045665-37045665 A>C	0.0	4037	LUNG	-	-	-	-	ZNF529	uc010xth.2,p.F48V|uc010xti.2,p.F30V|uc002oeh.4,p.F48V|ENST00000585960,p.F30V|NM_001145650,p.F30V|NM_001145649,p.F48V|ENST00000591340,p.F48V|NM_020951,p.F48V|ENST00000585983,p.F48V	protein_coding, processed_transcript	uc010xti.2	nonsynonymous SNV	exon4	c.T88G	p.F30V	HELVTLRDVVINFSQEEWEYLDSAQ	HELVTLRDVVINVSQEEWEYLDSAQ	5.0	4.0	unscreened	-	4037_19:37045665-37045665 A>C_HELVTLRDVVINVSQEEWEYLDSAQ
17:10358946-10358946 G>C	0.0	4037	LUNG	-	-	-	-	MYH4	ENST00000255381,p.A720G|NM_017533,p.A720G|uc002gmn.3,p.A720G	protein_coding	uc002gmn.3	nonsynonymous SNV	exon19	c.C2159G	p.A720G	ICRKGFPSRILYADFKQRYKVLNAS	ICRKGFPSRILYGDFKQRYKVLNAS	1.0	1.0	unscreened	-	4037_17:10358946-10358946 G>C_ICRKGFPSRILYGDFKQRYKVLNAS
12:55615626-55615626 T>C	0.0	4037	LUNG	-	-	-	-	OR10A7	ENST00000326258,p.L273P|uc010spf.2,p.L273P|NM_001005280,p.L273P	protein_coding	uc010spf.2	nonsynonymous SNV	exon1	c.T818C	p.L273P	RPKSNQSPESKKLVSLSYTVITPML	RPKSNQSPESKKPVSLSYTVITPML	1.0	7.0	unscreened	-	4037_12:55615626-55615626 T>C_RPKSNQSPESKKPVSLSYTVITPML
1:109394448-109394448 A>C	0.0	4037	LUNG	-	-	-	-	AKNAD1	ENST00000461774,p.L280R|ENST00000474186,p.L280R|ENST00000369995,p.L280R|ENST00000370001,p.L280R|NM_152763,p.L280R|ENST00000472781,p.L280R|uc001dwa.4,p.L280R|ENST00000369994,p.L280R	protein_coding, processed_transcript, nonsense_mediated_decay	uc001dwa.4	nonsynonymous SNV	exon2	c.T839G	p.L280R	VKIPKNKIINKPLAIAKQASFSSKS	VKIPKNKIINKPRAIAKQASFSSKS	1.0	7.0	unscreened	-	4037_1:109394448-109394448 A>C_VKIPKNKIINKPRAIAKQASFSSKS
6:116574550-116574559 CCAGTGAGTC>-	0.0	4037	LUNG	-	-	-	-	TSPYL4	uc003pwn.3,p.D205fs|NM_021648,p.D205fs|ENST00000420283,p.D205fs	protein_coding	uc003pwn.3	frameshift deletion	exon1	c.613_622del	p.D205fs	TRPRAPKINNCMDSLEAIDQELSNV	TRPRAPKINNCMRPSIKSCQT	5.0	4.0	unscreened	-	4037_6:116574550-116574559 CCAGTGAGTC>-_TRPRAPKINNCMRPSIKSCQT
19:43679604-43679604 T>A	0.0	4037	LUNG	-	-	-	-	PSG5	uc002ovu.3,p.S243C|ENST00000407356,p.S243C|ENST00000342951,p.S243C|NM_001130014,p.S243C|ENST00000404580,p.S243C|ENST00000366175,p.S243C|ENST00000599812,p.S336C|NM_002781,p.S243C|uc002ovx.3,p.S243C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ovx.3	nonsynonymous SNV	exon4	c.A727T	p.S243C	VTLNVLYGPDLPSIYPSFTYYRSGE	VTLNVLYGPDLPCIYPSFTYYRSGE	2.0	5.0	unscreened	-	4037_19:43679604-43679604 T>A_VTLNVLYGPDLPCIYPSFTYYRSGE
7:134719640-134719640 C>A	0.0	4037	LUNG	-	-	-	-	AGBL3	NM_178563,p.S433Y|ENST00000436302,p.S433Y|ENST00000458078,p.S407Y|ENST00000275763,p.S433Y|ENST00000435976,p.S433Y|uc011kpw.2,p.S433Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kpw.2	nonsynonymous SNV	exon7	c.C1298A	p.S433Y	DLNRNYTSLLKESFPSVWYTRNMVH	DLNRNYTSLLKEYFPSVWYTRNMVH	5.0	9.0	unscreened	-	4037_7:134719640-134719640 C>A_DLNRNYTSLLKEYFPSVWYTRNMVH
20:7895037-7895037 A>C	0.0	4037	LUNG	-	-	-	-	HAO1	uc002wmw.1,p.L107V|uc010gbu.3,p.L107V|NM_017545,p.L107V|ENST00000378789,p.L107V	protein_coding	uc010gbu.3	nonsynonymous SNV	exon3	c.T319G	p.L107V	VRACQSLGTGMMLSSWATSSIEEVA	VRACQSLGTGMMVSSWATSSIEEVA	1.0	8.0	unscreened	-	4037_20:7895037-7895037 A>C_VRACQSLGTGMMVSSWATSSIEEVA
12:29648326-29648326 C>T	0.0	4037	LUNG	-	-	ID=COSM938589;OCCURENCE=1(endometrium)	-	OVCH1	ENST00000318184,p.E116K|NM_183378,p.E116K|uc001rix.1,p.E116K	protein_coding, nonsense_mediated_decay	uc001rix.1	nonsynonymous SNV	exon4	c.G346A	p.E116K	SGEYSLFQKDKQEQNIPVSKIITHP	SGEYSLFQKDKQKQNIPVSKIITHP	1.0	2.0	unscreened	-	4037_12:29648326-29648326 C>T_SGEYSLFQKDKQKQNIPVSKIITHP
15:73617709-73617709 T>A	0.0	4037	LUNG	-	-	-	-	HCN4	ENST00000261917,p.E556V|uc002avp.3,p.E556V|NM_005477,p.E556V	protein_coding	uc002avp.3	nonsynonymous SNV	exon5	c.A1667T	p.E556V	PPDTRQRIHDYYEHRYQGKMFDEES	PPDTRQRIHDYYVHRYQGKMFDEES	1.0	8.0	unscreened	-	4037_15:73617709-73617709 T>A_PPDTRQRIHDYYVHRYQGKMFDEES
10:38407129-38407130 AG>-	0.0	4037	LUNG	-	-	-	-	ZNF37A	NM_001178101,p.T350fs|uc001izm.3,p.T350fs|NM_001007094,p.T350fs|uc001izl.3,p.T350fs|ENST00000361085,p.T350fs|uc001izk.3,p.T350fs|ENST00000351773,p.T350fs|NM_003421,p.T350fs	protein_coding, processed_transcript	uc001izm.3	frameshift deletion	exon7	c.1050_1051del	p.T350fs	EKSTLTQHQRTHTGEKPYECHECGK	EKSTLTQHQRTHTGETI	8.0	1.0	unscreened	-	4037_10:38407129-38407130 AG>-_EKSTLTQHQRTHTGETI
X:117521349-117521349 A>G	0.0	4037	LUNG	-	-	-	-	WDR44	NM_019045,p.Q53R|ENST00000254029,p.Q53R|uc004eqo.3,p.Q53R|NM_001184965,p.Q53R|uc004eqn.3,p.Q53R|ENST00000371825,p.Q53R	protein_coding, processed_transcript	uc004eqo.3	nonsynonymous SNV	exon3	c.A158G	p.Q53R	NTAYKVGNESPVQELKQDVSKKIIE	NTAYKVGNESPVRELKQDVSKKIIE	6.0	10.0	-	-	4037_X:117521349-117521349 A>G_NTAYKVGNESPVRELKQDVSKKIIE
15:27216693-27216693 A>T	0.0	4037	LUNG	-	-	-	-	GABRG3	uc001zbg.2,p.K4M|uc001zbf.4,p.K4M|NM_001270873,p.K4M|NM_033223,p.K4M|ENST00000333743,p.K4M|ENST00000555083,p.K4M	retained_intron, protein_coding, processed_transcript	uc001zbg.2	nonsynonymous SNV	exon1	c.A11T	p.K4M	MAPKLLLLLCLFSGLH	MAPMLLLLLCLFSGLH	1.0	7.0	unscreened	-	4037_15:27216693-27216693 A>T_MAPMLLLLLCLFSGLH
13:27332994-27332994 A>C	1.0	4037	LUNG	-	-	-	-	GPR12	uc010tdl.2,p.L165R|uc021rhk.1,p.L324R|NM_005288,p.L324R|ENST00000405846,p.L324R|ENST00000381436,p.L324R|uc010aal.3,p.L324R	protein_coding	uc021rhk.1	nonsynonymous SNV	exon1	c.T971G	p.L324R	LCLICCGCIPSSLAQRARSPSDV	LCLICCGCIPSSRAQRARSPSDV	7.0	7.0	unscreened	-	4037_13:27332994-27332994 A>C_LCLICCGCIPSSRAQRARSPSDV
1:55457618-55457618 A>C	0.0	4037	LUNG	-	-	-	-	TMEM61	ENST00000371268,p.S159R|uc001cyd.3,p.S159R|NM_182532,p.S159R	protein_coding	uc001cyd.3	nonsynonymous SNV	exon3	c.A475C	p.S159R	PPAYPTEEALEPSGSRDALLSTQPA	PPAYPTEEALEPRGSRDALLSTQPA	3.0	8.0	unscreened	-	4037_1:55457618-55457618 A>C_PPAYPTEEALEPRGSRDALLSTQPA
6:152774796-152774796 T>G	0.0	4037	LUNG	-	-	-	-	SYNE1	uc003qox.1,p.E500D|uc010kjb.1,p.E967D|NM_033071,p.E991D|ENST00000423061,p.E991D|NM_182961,p.E984D|ENST00000413186,p.E984D|ENST00000367248,p.E974D|uc003qoy.2,p.E551D|ENST00000367255,p.E984D|ENST00000495090,p.E551D|ENST00000341594,p.E1050D|uc003qow.3,p.E279D|ENST00000367253,p.E984D|uc003qou.4,p.E984D|ENST00000265368,p.E984D|ENST00000448038,p.E991D|uc003qoz.2,p.E416D|uc003qot.4,p.E991D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kjb.1	nonsynonymous SNV	exon23	c.A2901C	p.E967D	QRVLNAFLKACDELTDILPEQEQQG	QRVLNAFLKACDDLTDILPEQEQQG	6.0	7.0	unscreened	-	4037_6:152774796-152774796 T>G_QRVLNAFLKACDDLTDILPEQEQQG
7:48083116-48083116 T>G	0.0	4037	LUNG	-	-	-	-	C7orf57	ENST00000539619,p.S94A|uc003toh.5,p.S94A|NM_001100159,p.S94A|ENST00000430738,p.S139A|ENST00000348904,p.S94A|ENST00000420324,p.S139A	retained_intron, protein_coding	uc003toh.5	nonsynonymous SNV	exon4	c.T280G	p.S94A	LLKHFAPGTRKGSPVAYSLPDWYIH	LLKHFAPGTRKGAPVAYSLPDWYIH	1.0	6.0	unscreened	-	4037_7:48083116-48083116 T>G_LLKHFAPGTRKGAPVAYSLPDWYIH
14:23588135-23588135 C>T	0.0	4037	LUNG	-	-	-	-	CEBPE	uc001wiv.2,p.D56N|NM_001805,p.D56N|ENST00000206513,p.D56N	protein_coding	uc001wiv.2	nonsynonymous SNV	exon1	c.G166A	p.D56N	AYIESGEEQLLSDLFAVKPAPEARG	AYIESGEEQLLSNLFAVKPAPEARG	1.0	10.0	-	-	4037_14:23588135-23588135 C>T_AYIESGEEQLLSNLFAVKPAPEARG
3:49899528-49899528 G>A	0.0	4037	LUNG	-	-	-	-	CAMKV	uc011bcz.1,p.T36M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bcz.1	nonsynonymous SNV	exon3	c.C107T	p.T36M	ASCTPARSSRSGTAARVKHPNILQL	ASCTPARSSRSGMAARVKHPNILQL	3.0	2.0	unscreened	-	4037_3:49899528-49899528 G>A_ASCTPARSSRSGMAARVKHPNILQL
7:89866208-89866208 T>-	1.0	4037	LUNG	-	-	-	-	STEAP2	ENST00000394626,p.L446fs|NM_001040666,p.L446fs|NM_001244945,p.L446fs|uc003ukd.3,p.L446fs|ENST00000394629,p.L446fs|uc003uka.3,p.L446fs	retained_intron, protein_coding	uc003ukd.3	frameshift deletion	exon7	c.1337delT	p.L446fs	LALVLPSIVILDLLQLCRYPD	LALVLPSIVILDLCSFADTQT	5.0	10.0	unscreened	-	4037_7:89866208-89866208 T>-_LALVLPSIVILDLCSFADTQT
19:38849188-38849188 T>C	0.0	4037	LUNG	-	-	-	-	CATSPERG	ENST00000410018,p.F455L|ENST00000409410,p.F495L|ENST00000409235,p.F495L|uc002oih.4,p.F495L|NM_021185,p.F495L|uc002oif.4,p.F135L|uc002oig.4,p.F455L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002oih.4	nonsynonymous SNV	exon13	c.T1483C	p.F495L	NPYNNLIFIWGNFLLQSSNKENFIY	NPYNNLIFIWGNLLLQSSNKENFIY	8.0	2.0	unscreened	-	4037_19:38849188-38849188 T>C_NPYNNLIFIWGNLLLQSSNKENFIY
2:242430516-242430516 T>C	0.0	4037	LUNG	-	-	-	-	FARP2	NM_014808,p.S849P|ENST00000264042,p.S849P|uc002wbi.2,p.S849P	retained_intron, protein_coding, processed_transcript	uc002wbi.2	nonsynonymous SNV	exon23	c.T2545C	p.S849P	RLEKEKWMLDLNSAIQAAKSGGDTA	RLEKEKWMLDLNPAIQAAKSGGDTA	6.0	7.0	unscreened	-	4037_2:242430516-242430516 T>C_RLEKEKWMLDLNPAIQAAKSGGDTA
3:120320102-120320102 A>G	1.0	4037	LUNG	-	-	-	-	NDUFB4	ENST00000184266,p.R109G|NM_004547,p.R109G|uc003edu.3,p.R109G	retained_intron, protein_coding, nonsense_mediated_decay	uc003edu.3	nonsynonymous SNV	exon2	c.A325G	p.R109G	PLIFIYYIIKTERDRKEKLIQEGKL	PLIFIYYIIKTEGDRKEKLIQEGKL	10.0	9.0	-	-	4037_3:120320102-120320102 A>G_PLIFIYYIIKTEGDRKEKLIQEGKL
7:6476162-6476162 T>C	0.0	4037	LUNG	-	-	-	-	DAGLB	uc011jwu.2,p.T84A|NM_139179,p.T84A|uc003sqd.4,p.T43A|NM_001142936,p.T84A|ENST00000425398,p.T84A|ENST00000297056,p.T84A|ENST00000436575,p.T43A|uc003sqa.3,p.T84A|ENST00000432248,p.T84A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011jwu.2	nonsynonymous SNV	exon3	c.A250G	p.T84A	TVSAIMCVSMRGTICNPGPRKSMSK	TVSAIMCVSMRGAICNPGPRKSMSK	7.0	2.0	unscreened	-	4037_7:6476162-6476162 T>C_TVSAIMCVSMRGAICNPGPRKSMSK
16:735349-735349 A>C	1.0	4037	LUNG	-	-	-	-	WDR24	NM_032259,p.F643V|ENST00000293883,p.F643V|uc002ciz.1,p.F643V|ENST00000248142,p.F773V	retained_intron, protein_coding	uc002ciz.1	nonsynonymous SNV	exon7	c.T1927G	p.F643V	DFFGVLVRDMLHFYAEQGDVQMAVS	DFFGVLVRDMLHVYAEQGDVQMAVS	5.0	4.0	unscreened	-	4037_16:735349-735349 A>C_DFFGVLVRDMLHVYAEQGDVQMAVS
10:72434675-72434675 G>C	1.0	4037	LUNG	-	-	-	-	ADAMTS14	uc001jrg.3,p.R149P|ENST00000373207,p.R149P|NM_139155,p.R149P|NM_080722,p.R149P|uc001jrh.3,p.R149P|ENST00000373208,p.R149P	protein_coding	uc001jrh.3	nonsynonymous SNV	exon2	c.G446C	p.R149P	QEDFRELFRQPLRQECVYTGGVTGM	QEDFRELFRQPLPQECVYTGGVTGM	3.0	5.0	unscreened	-	4037_10:72434675-72434675 G>C_QEDFRELFRQPLPQECVYTGGVTGM
5:74646111-74646129 CAATTTGGCAGCTCAGCCA>-	1.0	4037	LUNG	-	-	-	-	HMGCR	ENST00000343975,p.P231fs|NM_001130996,p.P231fs|uc011cst.2,p.P251fs|NM_000859,p.P231fs|ENST00000287936,p.P231fs|uc003kdp.3,p.P231fs|uc003kdq.3,p.P231fs|ENST00000511206,p.P231fs	retained_intron, protein_coding	uc011cst.2	frameshift deletion	exon8	c.752_770del	p.P251fs	VLELSRESREGRPIWQLSHFARVLE	VLELSRESREGRLLPEF	7.0	5.0	unscreened	-	4037_5:74646111-74646129 CAATTTGGCAGCTCAGCCA>-_VLELSRESREGRLLPEF
17:41833093-41833093 G>A	0.0	4037	LUNG	-	-	-	-	SOST	NM_025237,p.R87C|uc002iec.1,p.R87C|ENST00000301691,p.R87C	protein_coding	uc002iec.1	nonsynonymous SNV	exon2	c.C259T	p.R87C	VSEYSCRELHFTRYVTDGPCRSAKP	VSEYSCRELHFTCYVTDGPCRSAKP	1.0	9.0	unscreened	-	4037_17:41833093-41833093 G>A_VSEYSCRELHFTCYVTDGPCRSAKP
19:38849188-38849188 T>C	0.0	4037	LUNG	-	-	-	-	CATSPERG	ENST00000215069,p.F488L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000215069	nonsynonymous SNV	exon11	c.T1462C	p.F488L	NPYNNLIFIWGNFLLQRSGTSWRAA	NPYNNLIFIWGNLLLQRSGTSWRAA	8.0	2.0	unscreened	-	4037_19:38849188-38849188 T>C_NPYNNLIFIWGNLLLQRSGTSWRAA
1:248224098-248224098 A>T	0.0	4037	LUNG	-	-	-	-	OR2L3	NM_001004687,p.I39F|ENST00000359959,p.I39F|uc001idx.1,p.I39F	protein_coding	uc001idx.1	nonsynonymous SNV	exon1	c.A115T	p.I39F	FILIVFIFLMALIGNLSMILLIFLD	FILIVFIFLMALFGNLSMILLIFLD	1.0	10.0	unscreened	-	4037_1:248224098-248224098 A>T_FILIVFIFLMALFGNLSMILLIFLD
15:78783042-78783042 A>G	1.0	4037	LUNG	-	-	ID=COSM254747;OCCURENCE=3(urinary_tract)	-	IREB2	uc010unb.1,p.I505V|NM_004136,p.I755V|uc002bdr.2,p.I755V|ENST00000258886,p.I755V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010unb.1	nonsynonymous SNV	exon17	c.A1513G	p.I505V	LLYLGDSVTTDHISPAGSIARNSAA	LLYLGDSVTTDHVSPAGSIARNSAA	7.0	10.0	-	-	4037_15:78783042-78783042 A>G_LLYLGDSVTTDHVSPAGSIARNSAA
9:20346571-20346571 A>G	0.0	4037	LUNG	-	-	-	1	MLLT3	ENST00000355930,p.I96T	protein_coding, processed_transcript	ENST00000355930	nonsynonymous SNV	exon10	c.T287C	p.I96T	SDKQIKNGECDKIVNLIEETGHFHI	SDKQIKNGECDKTVNLIEETGHFHI	5.0	3.0	unscreened	-	4037_9:20346571-20346571 A>G_SDKQIKNGECDKTVNLIEETGHFHI
22:26291227-26291227 A>T	0.0	4037	LUNG	-	-	-	-	MYO18B	uc010guy.1,p.R1432W|uc010guz.1,p.R1430W|uc003aca.1,p.R1431W|uc003abz.1,p.R1550W|NM_032608,p.R1550W|ENST00000407587,p.R1551W|uc011akb.1,p.R1063W|ENST00000335473,p.R1550W|ENST00000536101,p.R1550W|uc011aka.1,p.R704W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011akb.1	nonsynonymous SNV	exon24	c.A3187T	p.R1063W	QCEERLDSELTARKELEQKLGELQS	QCEERLDSELTAWKELEQKLGELQS	1.0	9.0	unscreened	-	4037_22:26291227-26291227 A>T_QCEERLDSELTAWKELEQKLGELQS
3:137843366-137843366 A>C	0.0	4037	LUNG	-	-	-	-	A4GNT	NM_016161,p.L255V|uc003ers.2,p.L255V|ENST00000236709,p.L255V	protein_coding	uc003ers.2	nonsynonymous SNV	exon3	c.T763G	p.L255V	EVSDLRCLNISFLHPQRFYPISYRE	EVSDLRCLNISFVHPQRFYPISYRE	1.0	2.0	unscreened	-	4037_3:137843366-137843366 A>C_EVSDLRCLNISFVHPQRFYPISYRE
4:155720673-155720673 A>C	0.0	4037	LUNG	-	-	-	-	RBM46	uc003iop.2,p.E453D|NM_001277171,p.E453D|ENST00000514866,p.E453D|ENST00000281722,p.E453D|NM_001277173,p.E453D|uc003ioo.4,p.E453D|uc011cim.2,p.E453D|ENST00000510397,p.E453D|NM_144979,p.E453D	protein_coding	uc011cim.2	nonsynonymous SNV	exon4	c.A1359C	p.E453D	SYFMPDKLCTTLEDAKELAAQFTLL	SYFMPDKLCTTLDDAKELAAQFTLL	1.0	9.0	unscreened	-	4037_4:155720673-155720673 A>C_SYFMPDKLCTTLDDAKELAAQFTLL
11:78380267-78380267 A>C	0.0	4037	LUNG	-	-	-	-	TENM4	NM_001098816,p.L2375V|ENST00000278550,p.L2375V|uc001ozk.4,p.L600V|ENST00000530738,p.L839V|uc001ozl.4,p.L2375V	retained_intron, protein_coding, processed_transcript	uc001ozl.4	nonsynonymous SNV	exon32	c.T7123G	p.L2375V	IGTPLAVFSGTGLMIKQILYTAYGE	IGTPLAVFSGTGVMIKQILYTAYGE	4.0	6.0	unscreened	-	4037_11:78380267-78380267 A>C_IGTPLAVFSGTGVMIKQILYTAYGE
7:77649180-77649180 A>T	0.0	4037	LUNG	-	-	-	-	MAGI2	NM_012301,p.S1274T|ENST00000419488,p.S1260T|uc003ugy.3,p.S1260T|ENST00000354212,p.S1274T|NM_001301128,p.S1260T|uc003ugx.3,p.S1274T	retained_intron, protein_coding, processed_transcript	uc003ugy.3	nonsynonymous SNV	exon21	c.T3778A	p.S1260T	LAPFSPSHPAPPSDPSHQISPGPTW	LAPFSPSHPAPPTDPSHQISPGPTW	3.0	1.0	unscreened	-	4037_7:77649180-77649180 A>T_LAPFSPSHPAPPTDPSHQISPGPTW
1:1904469-1904469 T>C	0.0	4037	LUNG	-	-	-	-	CFAP74	NM_001080484,p.Q231R|uc009vkz.1,p.Q231R|uc001aim.1,p.Q231R	 processed_transcript,retained_intron, protein_coding	uc009vkz.1	nonsynonymous SNV	exon7	c.A692G	p.Q231R	NRLLRIRKSLNTQKELGLRHQKLLE	NRLLRIRKSLNTRKELGLRHQKLLE	2.0	4.0	unscreened	-	4037_1:1904469-1904469 T>C_NRLLRIRKSLNTRKELGLRHQKLLE
2:234869648-234869648 T>G	0.0	4037	LUNG	-	-	-	-	TRPM8	uc010fyj.3,p.F219V|NM_024080,p.F531V|ENST00000433712,p.F219V|ENST00000324695,p.F531V|uc002vvh.3,p.F531V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fyj.3	nonsynonymous SNV	exon13	c.T655G	p.F219V	ALLTFVWKLVANFRRGFRKEDRNGR	ALLTFVWKLVANVRRGFRKEDRNGR	2.0	9.0	unscreened	-	4037_2:234869648-234869648 T>G_ALLTFVWKLVANVRRGFRKEDRNGR
1:40961175-40961175 T>G	0.0	4037	LUNG	-	-	-	-	ZFP69	ENST00000372705,p.L342R|uc010ojk.2,p.L343R|ENST00000372706,p.L342R|uc009vwb.3,p.L342R|uc001cfo.3,p.L342R|NM_198494,p.L342R	protein_coding, processed_transcript	uc010ojk.2	nonsynonymous SNV	exon6	c.T1028G	p.L343R	EECGKAFRHRSSLNQHHRTHTGEKP	EECGKAFRHRSSRNQHHRTHTGEKP	4.0	1.0	unscreened	-	4037_1:40961175-40961175 T>G_EECGKAFRHRSSRNQHHRTHTGEKP
1:160394965-160394965 T>C	0.0	4037	LUNG	-	-	-	-	VANGL2	uc001fwc.2,p.W455R|uc001fwb.2,p.W455R|ENST00000368061,p.W455R|NM_020335,p.W455R	protein_coding, processed_transcript	uc001fwc.2	nonsynonymous SNV	exon8	c.T1363C	p.W455R	AAGPTIQYHKERWLAKQWTLVSEEP	AAGPTIQYHKERRLAKQWTLVSEEP	3.0	2.0	unscreened	-	4037_1:160394965-160394965 T>C_AAGPTIQYHKERRLAKQWTLVSEEP
15:45405566-45405566 A>C	0.0	4037	LUNG	-	-	-	-	DUOX2	ENST00000603300,p.L15R|uc010bea.3,p.L15R|NM_014080,p.L15R	retained_intron, protein_coding	uc010bea.3	nonsynonymous SNV	exon2	c.T44G	p.L15R	RARPEALMLLGALLTGSLGPSGNQD	RARPEALMLLGARLTGSLGPSGNQD	1.0	7.0	unscreened	-	4037_15:45405566-45405566 A>C_RARPEALMLLGARLTGSLGPSGNQD
15:45405566-45405566 A>C	0.0	4037	LUNG	-	-	-	-	DUOX2	ENST00000389039,p.L15R|uc001zun.3,p.L15R	retained_intron, protein_coding	uc001zun.3	nonsynonymous SNV	exon2	c.T44G	p.L15R	RARPEALMLLGALLTGSLGPSGSQD	RARPEALMLLGARLTGSLGPSGSQD	1.0	7.0	unscreened	-	4037_15:45405566-45405566 A>C_RARPEALMLLGARLTGSLGPSGSQD
6:116864999-116864999 A>G	0.0	4037	LUNG	-	-	-	-	FAM26D	NM_001256888,p.E8G|ENST00000416171,p.E8G|uc010ked.4,p.E8G	protein_coding	uc010ked.4	nonsynonymous SNV	exon2	c.A23G	p.E8G	MAPRSAKETFRINPNVAANL	MAPRSAKGTFRINPNVAANL	1.0	8.0	unscreened	-	4037_6:116864999-116864999 A>G_MAPRSAKGTFRINPNVAANL
12:58131165-58131165 A>G	0.0	4037	LUNG	-	-	-	-	AGAP2	uc001spq.3,p.S289P|NM_001122772,p.S289P|ENST00000547588,p.S289P|uc001spp.3,p.S289P	protein_coding	uc001spq.3	nonsynonymous SNV	exon1	c.T865C	p.S289P	DNSDLHPGPPAGSPPPLTLPPTPSP	DNSDLHPGPPAGPPPPLTLPPTPSP	4.0	9.0	unscreened	-	4037_12:58131165-58131165 A>G_DNSDLHPGPPAGPPPPLTLPPTPSP
14:88892630-88892630 T>C	0.0	4037	LUNG	-	-	-	-	SPATA7	uc001xwt.3,p.F37L|ENST00000555401,p.F86L|NM_001040428,p.F111L|ENST00000045347,p.F143L|ENST00000553885,p.F129L|uc001xws.3,p.F79L|NM_018418,p.F143L|uc001xwr.3,p.F111L|ENST00000356583,p.F111L|uc001xwq.3,p.F143L|ENST00000393545,p.F143L|ENST00000556553,p.F111L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xwt.3	nonsynonymous SNV	exon2	c.T109C	p.F37L	IEDDMLKEEMNGFSSFARSLVPSSE	IEDDMLKEEMNGLSSFARSLVPSSE	6.0	1.0	unscreened	-	4037_14:88892630-88892630 T>C_IEDDMLKEEMNGLSSFARSLVPSSE
21:43547333-43547333 T>G	0.0	4037	LUNG	-	-	-	-	UMODL1	NM_173568,p.F1299V|NM_001199527,p.F1227V|ENST00000400427,p.F1227V|uc002zaf.1,p.F1171V|NM_001004416,p.F1171V|ENST00000400424,p.F1099V|NM_001199528,p.F1099V|uc002zal.1,p.F121V|uc002zad.1,p.F1099V|ENST00000408989,p.F1299V|uc002zag.1,p.F1299V|ENST00000408910,p.F1171V|uc002zae.1,p.F1227V	protein_coding, processed_transcript, nonsense_mediated_decay	uc002zal.1	nonsynonymous SNV	exon5	c.T361G	p.F121V	ATPSSNARDPITFSFINNSCPVPNT	ATPSSNARDPITVSFINNSCPVPNT	2.0	3.0	unscreened	-	4037_21:43547333-43547333 T>G_ATPSSNARDPITVSFINNSCPVPNT
11:73610219-73610219 G>A	1.0	4037	LUNG	-	-	-	-	PAAF1	ENST00000376384,p.G87E|uc031qcq.1,p.G87E|ENST00000544552,p.G87E|ENST00000544909,p.G105E|ENST00000536582,p.G82E|ENST00000504441,p.G87E|uc001oum.2,p.G87E|ENST00000536003,p.G87E|NM_001267805,p.G87E|NM_001267803,p.G87E|ENST00000543814,p.G87E|uc001ouk.2,p.G104E|uc001oul.2,p.G87E|NM_001267804,p.G87E|ENST00000310571,p.G104E|NM_025155,p.G104E	retained_intron, protein_coding, processed_transcript	uc031qcq.1	nonsynonymous SNV	exon6	c.G260A	p.G87E	TKSITCLDISSRGGLGVSSSTDGTM	TKSITCLDISSREGLGVSSSTDGTM	7.0	9.0	-	-	4037_11:73610219-73610219 G>A_TKSITCLDISSREGLGVSSSTDGTM
12:29669412-29669412 A>C	0.0	4037	LUNG	-	-	-	-	TMTC1	NM_001193451,p.V726G|uc001rjb.3,p.V618G|ENST00000256062,p.V618G|uc001riz.3,p.V375G|ENST00000552618,p.V750G|uc021qwi.1,p.V726G|NM_175861,p.V618G|ENST00000551659,p.V788G|ENST00000539277,p.V726G|uc001rja.3,p.V462G|uc001riy.3,p.V71G	retained_intron, protein_coding, processed_transcript	uc021qwi.1	nonsynonymous SNV	exon15	c.T2177G	p.V726G	PSQRELRLALAQVLAVMGQTKEAEK	PSQRELRLALAQGLAVMGQTKEAEK	4.0	2.0	unscreened	-	4037_12:29669412-29669412 A>C_PSQRELRLALAQGLAVMGQTKEAEK
3:33194842-33194842 T>G	0.0	4037	LUNG	-	-	-	-	SUSD5	uc003cfo.1,p.S428R|ENST00000309558,p.S428R|NM_015551,p.S428R	protein_coding	uc003cfo.1	nonsynonymous SNV	exon5	c.A1282C	p.S428R	EVKKPKSSTLTPSEGMTHSSVLPSQ	EVKKPKSSTLTPREGMTHSSVLPSQ	1.0	7.0	unscreened	-	4037_3:33194842-33194842 T>G_EVKKPKSSTLTPREGMTHSSVLPSQ
3:32280570-32280570 T>G	0.0	4037	LUNG	-	-	-	-	CMTM8	uc010hfu.3,p.F36V|ENST00000458535,p.F36V|NM_178868,p.F36V|uc003cex.3,p.F36V|ENST00000307526,p.F36V	protein_coding	uc010hfu.3	nonsynonymous SNV	exon1	c.T106G	p.F36V	STSSSSFAYDREFLRTLPGFLIVAE	STSSSSFAYDREVLRTLPGFLIVAE	5.0	1.0	unscreened	-	4037_3:32280570-32280570 T>G_STSSSSFAYDREVLRTLPGFLIVAE
10:20453482-20453482 T>A	0.0	4037	LUNG	-	-	-	-	PLXDC2	uc001iqh.1,p.I241N|ENST00000377252,p.I290N|uc001iqg.1,p.I290N|NM_001282736,p.I241N|NM_032812,p.I290N|ENST00000377242,p.I241N	protein_coding	uc001iqh.1	nonsynonymous SNV	exon6	c.T722A	p.I241N	VGLSDAFVVVHRIQQIPNVRRRTIY	VGLSDAFVVVHRNQQIPNVRRRTIY	5.0	1.0	unscreened	-	4037_10:20453482-20453482 T>A_VGLSDAFVVVHRNQQIPNVRRRTIY
1:12836102-12836102 T>G	0.0	4037	LUNG	-	-	-	-	PRAMEF12	uc001aui.3,p.L235R|ENST00000357726,p.L235R|NM_001080830,p.L235R	protein_coding	uc001aui.3	nonsynonymous SNV	exon2	c.T704G	p.L235R	APYLGQMRNLRKLVLFNIHVSACIP	APYLGQMRNLRKRVLFNIHVSACIP	1.0	7.0	unscreened	-	4037_1:12836102-12836102 T>G_APYLGQMRNLRKRVLFNIHVSACIP
14:65406262-65406262 A>C	0.0	4037	LUNG	-	-	-	-	GPX2	ENST00000557049,p.F117V	protein_coding, nonsense_mediated_decay	ENST00000557049	nonsynonymous SNV	exon2	c.T349G	p.F117V	PEGEPFRRYSRTFPTINIEPDIKRL	PEGEPFRRYSRTVPTINIEPDIKRL	1.0	4.0	unscreened	-	4037_14:65406262-65406262 A>C_PEGEPFRRYSRTVPTINIEPDIKRL
6:109748131-109748131 A>T	1.0	4037	LUNG	-	-	-	-	PPIL6	NM_001111298,p.F184I|NM_173672,p.F184I|ENST00000417394,p.F141I|uc003ptg.4,p.F184I|ENST00000440797,p.F184I|ENST00000424445,p.F152I|NM_001286360,p.F152I|ENST00000447468,p.F184I|NM_001286361,p.F152I|uc010kdp.3,p.F184I|ENST00000521072,p.F184I	protein_coding, processed_transcript, nonsense_mediated_decay	uc010kdp.3	nonsynonymous SNV	exon5	c.T550A	p.F184I	KNFQVLCTGKAGFSQRGIRLHYKNS	KNFQVLCTGKAGISQRGIRLHYKNS	4.0	5.0	unscreened	-	4037_6:109748131-109748131 A>T_KNFQVLCTGKAGISQRGIRLHYKNS
3:32775034-32775037 TAAG>-	0.0	4037	LUNG	-	-	-	-	CNOT10	uc010hfw.2,p.140_141del|ENST00000435630,p.391_392del|uc011axi.2,p.217_218del|ENST00000328834,p.445_446del|ENST00000454516,p.505_506del|NM_015442,p.445_446del|NM_001256742,p.505_506del|uc011axj.2,p.505_506del|uc003cfc.2,p.445_446del|uc003cfd.2,p.444_445del|ENST00000538368,p.217_218del|ENST00000331889,p.445_446del|NM_001256741,p.445_446del|uc003cfe.2,p.445_446del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011axj.2	nonframeshift deletion	exon11	c.1515_1517del	p.505_506del	IVLASQSIQNTVYNDGQSSAIPVAS	IVLASQSIQNTVYDGQSSAIPVASM	7.0	6.0	unscreened	-	4037_3:32775034-32775037 TAAG>-_IVLASQSIQNTVYDGQSSAIPVASM
10:78832934-78832934 C>T	1.0	4037	LUNG	-	-	-	-	KCNMA1	NM_001161352,p.G557D|ENST00000372437,p.G492D|uc001jxm.3,p.G557D|ENST00000286628,p.G557D|uc001jxk.1,p.G172D|ENST00000372440,p.G557D|uc009xrt.1,p.G377D|uc001jxn.3,p.G557D|uc021ptu.1,p.G503D|NM_001271519,p.G557D|NM_002247,p.G557D|NM_001014797,p.G557D|uc001jxo.3,p.G557D|ENST00000372443,p.G557D|uc001jxq.3,p.G557D|NM_001271518,p.G503D|ENST00000406533,p.G557D|ENST00000404857,p.G557D|uc001jxl.1,p.G211D|ENST00000354353,p.G557D|ENST00000404771,p.G557D|ENST00000457953,p.G531D|uc001jxj.2,p.G557D|NM_001161353,p.G557D|ENST00000604624,p.G418D|ENST00000286627,p.G557D|ENST00000372408,p.G494D	protein_coding, processed_transcript	uc021ptu.1	nonsynonymous SNV	exon13	c.G1508A	p.G503D	GDDAICLAELKLGFIAQSCLAQGLS	GDDAICLAELKLDFIAQSCLAQGLS	8.0	4.0	unscreened	-	4037_10:78832934-78832934 C>T_GDDAICLAELKLDFIAQSCLAQGLS
7:143882814-143882814 A>G	1.0	4037	LUNG	-	-	-	-	CTAGE4	uc010lpc.3,p.R740G|ENST00000486333,p.R740G|NM_198495,p.R740G	protein_coding	uc010lpc.3	nonsynonymous SNV	exon1	c.A2218G	p.R740G	TMFGASRGYFPPRDFPGPPHAPFAM	TMFGASRGYFPPGDFPGPPHAPFAM	5.0	6.0	unscreened	-	4037_7:143882814-143882814 A>G_TMFGASRGYFPPGDFPGPPHAPFAM
20:45131391-45131391 A>C	0.0	4037	LUNG	-	-	-	-	ZNF334	uc002xsd.4,p.L158R|uc002xsb.4,p.L158R|NM_001270497,p.L195R|ENST00000593880,p.L219R|ENST00000347606,p.L196R|NM_018102,p.L196R|uc002xsc.4,p.L196R|uc002xsa.4,p.L219R|uc031rtw.1,p.L158R|ENST00000596323,p.L158R|ENST00000457685,p.L158R|uc010ghl.4,p.L195R	protein_coding	uc031rtw.1	nonsynonymous SNV	exon5	c.T473G	p.L158R	NPMRKASNQNENLILHQNIQILKQP	NPMRKASNQNENRILHQNIQILKQP	1.0	1.0	unscreened	-	4037_20:45131391-45131391 A>C_NPMRKASNQNENRILHQNIQILKQP
3:110852703-110852703 A>G	0.0	4037	LUNG	-	-	-	-	PVRL3	uc003dxt.2,p.R431G|NM_015480,p.R431G|ENST00000485303,p.R431G	protein_coding, processed_transcript	uc003dxt.2	nonsynonymous SNV	exon6	c.A1291G	p.R431G	VSVLAGIFCYRRRRTFRGDYFAKNY	VSVLAGIFCYRRGRTFRGDYFAKNY	3.0	3.0	unscreened	-	4037_3:110852703-110852703 A>G_VSVLAGIFCYRRGRTFRGDYFAKNY
10:96802761-96802761 C>A	0.0	4037	LUNG	-	-	-	2	CYP2C8	uc010qod.1,p.M259I|uc010qob.2,p.M259I|uc021pwl.1,p.M275I|uc010qoa.2,p.M275I|uc001kkb.3,p.M345I|NM_001198855,p.M275I|NM_001198854,p.M243I|NM_000770,p.M345I|ENST00000539050,p.M259I|ENST00000527420,p.M345I|ENST00000371270,p.M345I|uc010qoc.2,p.M243I|NM_001198853,p.M275I|ENST00000535898,p.M243I	retained_intron, protein_coding, nonsense_mediated_decay	uc021pwl.1	nonsynonymous SNV	exon8	c.G825T	p.M275I	RHRSPCMQDRSHMPYTDAVVHEIQR	RHRSPCMQDRSHIPYTDAVVHEIQR	1.0	5.0	unscreened	-	4037_10:96802761-96802761 C>A_RHRSPCMQDRSHIPYTDAVVHEIQR
3:183954272-183954272 G>A	0.0	4037	LUNG	-	-	-	-	VWA5B2	ENST00000426955,p.A452T|uc011brb.2,p.A233T|NM_138345,p.A452T|ENST00000273794,p.A233T|uc003fnd.3,p.A172T|uc011bra.2,p.A452T	retained_intron, protein_coding	uc011brb.2	nonsynonymous SNV	exon7	c.G697A	p.A233T	RAYPRQLFLLTAASPMAATTHRTLE	RAYPRQLFLLTATSPMAATTHRTLE	1.0	1.0	unscreened	-	4037_3:183954272-183954272 G>A_RAYPRQLFLLTATSPMAATTHRTLE
12:50748024-50748024 T>A	0.0	4037	LUNG	-	-	-	-	FAM186A	uc001rwl.2,p.K864I|ENST00000327337,p.K864I|ENST00000543111,p.K864I|NM_001145475,p.K864I|uc010smt.1,p.K642I	protein_coding, nonsense_mediated_decay	uc010smt.1	nonsynonymous SNV	exon1	c.A1925T	p.K642I	EHYEKISENWEEKKAWLQMKEGKQE	EHYEKISENWEEIKAWLQMKEGKQE	1.0	10.0	unscreened	-	4037_12:50748024-50748024 T>A_EHYEKISENWEEIKAWLQMKEGKQE
2:27147824-27147824 G>T	0.0	4037	LUNG	-	-	-	-	DPYSL5	ENST00000431402,p.D111Y|NM_001253723,p.D111Y|uc002rhu.4,p.D111Y|ENST00000401478,p.D111Y|ENST00000450961,p.D111Y|ENST00000288699,p.D111Y|ENST00000434719,p.D111Y|uc021vev.1,p.D111Y|NM_001253724,p.D111Y|NM_020134,p.D111Y|uc002rhv.4,p.D111Y	retained_intron, protein_coding	uc021vev.1	nonsynonymous SNV	exon3	c.G331T	p.D111Y	GHVLPDKETSLVDAYEKCRGLADPK	GHVLPDKETSLVYAYEKCRGLADPK	1.0	2.0	unscreened	-	4037_2:27147824-27147824 G>T_GHVLPDKETSLVYAYEKCRGLADPK
10:7776923-7776923 C>T	0.0	4037	LUNG	-	-	-	-	ITIH2	uc001ijs.3,p.T609I|NM_002216,p.T609I|ENST00000358415,p.T609I|ENST00000379587,p.T598I	retained_intron, protein_coding, processed_transcript	uc001ijs.3	nonsynonymous SNV	exon15	c.C1826T	p.T609I	SLAPTAAAKRRITRSILQMSLDHHI	SLAPTAAAKRRIIRSILQMSLDHHI	1.0	7.0	unscreened	-	4037_10:7776923-7776923 C>T_SLAPTAAAKRRIIRSILQMSLDHHI
1:170927675-170927675 A>C	0.0	4037	LUNG	-	-	-	-	MROH9	uc010plz.2,p.N49T|ENST00000367759,p.N49T|NM_001163629,p.N49T|uc001ghg.3,p.N49T|ENST00000367758,p.N49T|NM_025063,p.N49T	protein_coding	uc010plz.2	nonsynonymous SNV	exon4	c.A146C	p.N49T	GLLSNESMILAVNSSFVDPLLQFES	GLLSNESMILAVTSSFVDPLLQFES	1.0	1.0	unscreened	-	4037_1:170927675-170927675 A>C_GLLSNESMILAVTSSFVDPLLQFES
5:147051289-147051289 C>G	0.0	4037	LUNG	-	-	-	-	JAKMIP2	ENST00000265272,p.R27S|ENST00000507386,p.R27S|uc003loq.2,p.R27S|NM_014790,p.R27S|uc003lor.2,p.R27S|NM_001270941,p.R27S|NM_001270934,p.R27S|uc010jgo.2,p.R27S	retained_intron, protein_coding	uc010jgo.2	nonsynonymous SNV	exon2	c.G81C	p.R27S	LIVALQAANEDLRTKLTDIQIELHQ	LIVALQAANEDLSTKLTDIQIELHQ	3.0	10.0	unscreened	-	4037_5:147051289-147051289 C>G_LIVALQAANEDLSTKLTDIQIELHQ
20:37356618-37356618 A>G	0.0	4037	LUNG	-	-	-	-	SLC32A1	ENST00000217420,p.K305R|uc002xjc.3,p.K305R|NM_080552,p.K305R	protein_coding	uc002xjc.3	nonsynonymous SNV	exon2	c.A914G	p.K305R	AWEKVKFYIDVKKFPISIGIIVFSY	AWEKVKFYIDVKRFPISIGIIVFSY	1.0	1.0	unscreened	-	4037_20:37356618-37356618 A>G_AWEKVKFYIDVKRFPISIGIIVFSY
7:92244522-92244522 T>C	1.0	4037	LUNG	-	-	-	1	CDK6	uc011khw.2,p.R305G|NM_001145306,p.R305G|ENST00000424848,p.R305G|ENST00000265734,p.R305G|uc010lez.3,p.R305G|NM_001259,p.R305G	retained_intron, protein_coding, processed_transcript	uc011khw.2	nonsynonymous SNV	exon8	c.A913G	p.R305G	SALSHPYFQDLERCKENLDSHLPPS	SALSHPYFQDLEGCKENLDSHLPPS	7.0	10.0	unscreened	-	4037_7:92244522-92244522 T>C_SALSHPYFQDLEGCKENLDSHLPPS
11:119217015-119217015 C>T	0.0	4037	LUNG	-	-	-	-	MFRP	uc010rzg.1,p.D42N|ENST00000449574,p.D42N|ENST00000530681,p.D42N|ENST00000360167,p.D42N|NM_031433,p.D42N|ENST00000555262,p.D42N	 processed_transcript,nonsense_mediated_decay,retained_intron, protein_coding	uc010rzg.1	nonsynonymous SNV	exon2	c.G124A	p.D42N	SGPPCPPPVFPEDASYSVPAPWHGR	SGPPCPPPVFPENASYSVPAPWHGR	1.0	9.0	unscreened	-	4037_11:119217015-119217015 C>T_SGPPCPPPVFPENASYSVPAPWHGR
17:26684755-26684755 T>C	1.0	4037	LUNG	-	-	-	-	TMEM199	ENST00000509083,p.L21P|ENST00000292114,p.L21P|uc002hba.3,p.L21P|uc010wah.1,p.L21P|ENST00000555264,p.L21P|NM_152464,p.L21P|ENST00000580868,p.L21P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wah.1	nonsynonymous SNV	exon1	c.T62C	p.L21P	ERLVRALGPGGELEPERLPRKLRAE	ERLVRALGPGGEPEPERLPRKLRAE	7.0	8.0	unscreened	-	4037_17:26684755-26684755 T>C_ERLVRALGPGGEPEPERLPRKLRAE
4:1803568-1803568 C>G	0.0	4037	LUNG	-	-	ID=COSM1149892,COSM715;OCCURENCE=5(cervix),2(lung),2(upper_aerodigestive_tract),1203(urinary_tract),27(skin)	1	FGFR3	ENST00000352904,p.S249C|NM_022965,p.S249C|ENST00000507588,p.S69C|uc003gdr.3,p.S249C|NM_000142,p.S249C|ENST00000481110,p.S249C|ENST00000412135,p.S249C|ENST00000260795,p.S249C|NM_001163213,p.S249C|uc010icb.1,p.S91C|uc003gds.3,p.S249C|uc003gdu.2,p.S249C|uc003gdt.1,p.S91C|uc003gdq.3,p.S249C|ENST00000440486,p.S249C|ENST00000340107,p.S249C	retained_intron, protein_coding, processed_transcript	uc010icb.1	nonsynonymous SNV	exon3	c.C272G	p.S91C	IRQTYTLDVLERSPHRPILQAGLPA	IRQTYTLDVLERCPHRPILQAGLPA	5.0	7.0	-	-	4037_4:1803568-1803568 C>G_IRQTYTLDVLERCPHRPILQAGLPA
X:38546911-38546911 A>T	0.0	4037	LUNG	-	-	-	-	TSPAN7	uc004deg.4,p.E247V|ENST00000286824,p.E264V|ENST00000465127,p.E277V|uc011mkj.2,p.E273V|ENST00000422612,p.E273V|ENST00000545599,p.E221V|NM_004615,p.E247V|uc011mkk.2,p.E264V|ENST00000378482,p.E247V	 processed_transcript, nonsense_mediated_decay,retained_intron, protein_coding	uc011mkk.2	nonsynonymous SNV	exon8	c.A791T	p.E264V	CCLSRFITANQYEMV	CCLSRFITANQYVMV	4.0	10.0	unscreened	-	4037_X:38546911-38546911 A>T_CCLSRFITANQYVMV
8:131138267-131138267 T>C	1.0	4037	LUNG	-	-	-	-	ASAP1	uc011liw.2,p.M477V|uc003yta.2,p.M484V|ENST00000357668,p.M484V|uc003ysz.2,p.M295V|NM_018482,p.M484V|ENST00000518721,p.M484V|NM_001247996,p.M477V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011liw.2	nonsynonymous SNV	exon18	c.A1429G	p.M477V	LTCIECSGIHREMGVHISRIQSLEL	LTCIECSGIHREVGVHISRIQSLEL	8.0	4.0	unscreened	-	4037_8:131138267-131138267 T>C_LTCIECSGIHREVGVHISRIQSLEL
21:31768693-31768693 T>A	0.0	4037	LUNG	-	-	-	-	KRTAP13-1	NM_181599,p.S97T|ENST00000355459,p.S97T|uc002yoa.3,p.S97T	protein_coding	uc002yoa.3	nonsynonymous SNV	exon1	c.T289A	p.S97T	TSLLCSPCQTTYSGSLGFGSSSCRS	TSLLCSPCQTTYTGSLGFGSSSCRS	1.0	5.0	unscreened	-	4037_21:31768693-31768693 T>A_TSLLCSPCQTTYTGSLGFGSSSCRS
6:143093777-143093777 T>G	0.0	4037	LUNG	-	-	-	-	HIVEP2	ENST00000367603,p.E700A|ENST00000012134,p.E700A|NM_006734,p.E700A|uc003qjd.3,p.E700A|ENST00000367604,p.E700A	protein_coding, processed_transcript	uc003qjd.3	nonsynonymous SNV	exon5	c.A2099C	p.E700A	FGTTCENRKRRKEKSVGDEEDTPMI	FGTTCENRKRRKAKSVGDEEDTPMI	6.0	2.0	unscreened	-	4037_6:143093777-143093777 T>G_FGTTCENRKRRKAKSVGDEEDTPMI
3:159604079-159604079 C>G	1.0	4037	LUNG	-	-	-	-	IQCJ-SCHIP1,SCHIP1	ENST00000485419,p.T397S|NM_014575,p.T321S|ENST00000337808,p.T321S|uc003fct.2,p.T308S|NM_001197107,p.T308S|uc010hvz.1,p.T281S|ENST00000482804,p.T94S|uc003fcs.2,p.T321S|NM_001197108,p.T89S|ENST00000460298,p.T281S|ENST00000445224,p.T78S|ENST00000412423,p.T308S|NM_001197109,p.T78S|uc003fcu.2,p.T78S|uc003fcr.2,p.T370S|NM_001197113,p.T397S|ENST00000476809,p.T370S|uc021xgm.1,p.T89S|uc003fcq.2,p.T397S|NM_001197114,p.T370S|ENST00000527095,p.T89S	protein_coding, processed_transcript	uc021xgm.1	nonsynonymous SNV	exon3	c.C266G	p.T89S	GSDKDSDADDSKTETSLDTPLSPMS	GSDKDSDADDSKSETSLDTPLSPMS	6.0	9.0	unscreened	-	4037_3:159604079-159604079 C>G_GSDKDSDADDSKSETSLDTPLSPMS
12:10168316-10168316 T>C	0.0	4037	LUNG	-	-	-	-	CLEC12B	ENST00000544853,p.S224P|uc001qwx.2,p.S224P|uc001qwy.2,p.S121P|ENST00000396502,p.S224P|NM_205852,p.S224P	retained_intron, protein_coding, nonsense_mediated_decay	uc001qwy.2	nonsynonymous SNV	exon5	c.T361C	p.S121P	GRSWFWEDGSVPSPSLYVSNY	GRSWFWEDGSVPPPSLYVSNY	1.0	5.0	unscreened	-	4037_12:10168316-10168316 T>C_GRSWFWEDGSVPPPSLYVSNY
10:132944890-132944890 G>T	0.0	4037	LUNG	-	-	-	-	TCERG1L	ENST00000368642,p.F356L|uc001lkp.3,p.F356L|NM_174937,p.F356L	retained_intron, protein_coding	uc001lkp.3	nonsynonymous SNV	exon7	c.C1068A	p.F356L	PWCVVWTGDDRVFFFNPTMHLSVWE	PWCVVWTGDDRVLFFNPTMHLSVWE	1.0	8.0	unscreened	-	4037_10:132944890-132944890 G>T_PWCVVWTGDDRVLFFNPTMHLSVWE
1:156823969-156823969 A>C	0.0	4037	LUNG	-	-	-	-	INSRR	ENST00000368195,p.L71R|uc009wsj.2,p.L71R|NM_014215,p.L71R|uc010pht.2,p.L71R	protein_coding	uc010pht.2	nonsynonymous SNV	exon2	c.T212G	p.L71R	LMFTATGEDFRGLSFPRLTQVTDYL	LMFTATGEDFRGRSFPRLTQVTDYL	1.0	4.0	unscreened	-	4037_1:156823969-156823969 A>C_LMFTATGEDFRGRSFPRLTQVTDYL
5:156347508-156347508 A>C	0.0	4037	LUNG	-	-	-	-	TIMD4	uc003lwg.2,p.L42R|uc003lwh.2,p.L340R|ENST00000406964,p.L42R|ENST00000407087,p.L312R|NM_138379,p.L340R|NM_001146726,p.L312R|ENST00000274532,p.L340R|uc010jii.2,p.L312R	protein_coding	uc010jii.2	nonsynonymous SNV	exon7	c.T935G	p.L312R	FALFVAFLLRGKLMETYCSQKHTRL	FALFVAFLLRGKRMETYCSQKHTRL	1.0	2.0	unscreened	-	4037_5:156347508-156347508 A>C_FALFVAFLLRGKRMETYCSQKHTRL
3:147128096-147128096 C>T	0.0	4037	LUNG	-	-	-	-	ZIC1	uc003ewe.3,p.S66L|ENST00000282928,p.S66L|NM_003412,p.S66L	protein_coding, processed_transcript	uc003ewe.3	nonsynonymous SNV	exon1	c.C197T	p.S66L	HELASAGQTAFTSQAPGYAAAAALG	HELASAGQTAFTLQAPGYAAAAALG	1.0	9.0	unscreened	-	4037_3:147128096-147128096 C>T_HELASAGQTAFTLQAPGYAAAAALG
10:129901882-129901882 T>G	1.0	4037	LUNG	-	-	-	-	MKI67	ENST00000368654,p.K2741T|uc001lkf.3,p.K2381T|NM_002417,p.K2741T|ENST00000368653,p.K2381T|uc009yaw.1,p.K1891T|uc001lke.3,p.K2741T|uc009yav.1,p.K2316T|NM_001145966,p.K2381T	protein_coding, processed_transcript	uc009yaw.1	nonsynonymous SNV	exon2	c.A5672C	p.K1891T	QKVQVKEEPSAVKFTQTSGETTDAD	QKVQVKEEPSAVTFTQTSGETTDAD	9.0	4.0	unscreened	-	4037_10:129901882-129901882 T>G_QKVQVKEEPSAVTFTQTSGETTDAD
9:112686089-112686089 A>C	0.0	4037	LUNG	-	-	-	-	PALM2,PALM2-AKAP2	uc004bek.4,p.K111T|NM_007203,p.K111T|uc004beg.3,p.K113T|NM_001037293,p.K113T|ENST00000483909,p.K111T|ENST00000448454,p.K113T|ENST00000374531,p.K113T|ENST00000314527,p.K111T|uc004beh.4,p.K111T|ENST00000497711,p.K97T|ENST00000374530,p.K111T|ENST00000302798,p.K111T|ENST00000413420,p.K111T|uc004bei.2,p.K111T|NM_147150,p.K111T|uc004bej.4,p.K111T|NM_053016,p.K111T|ENST00000510514,p.K111T|ENST00000555236,p.K111T	protein_coding, processed_transcript, nonsense_mediated_decay	uc004bek.4	nonsynonymous SNV	exon4	c.A332C	p.K111T	SQISAKEQIILEKLKETEKSFKDFQ	SQISAKEQIILETLKETEKSFKDFQ	7.0	5.0	unscreened	-	4037_9:112686089-112686089 A>C_SQISAKEQIILETLKETEKSFKDFQ
11:89880670-89880670 G>C	0.0	4037	LUNG	-	-	-	-	NAALAD2	ENST00000526637,p.E69Q|uc001pdf.4,p.E123Q|NM_001300930,p.E123Q|uc001pdd.2,p.E123Q|uc009yvy.3,p.E123Q|uc001pde.3,p.E123Q|uc009yvx.3,p.E123Q|ENST00000525171,p.E123Q|ENST00000321955,p.E123Q|ENST00000375944,p.E123Q|ENST00000527493,p.E123Q|NM_005467,p.E123Q|ENST00000534061,p.E123Q	retained_intron, protein_coding, nonsense_mediated_decay	uc009yvy.3	nonsynonymous SNV	exon3	c.G367C	p.E123Q	NETNANYISIVDEHETEIFKTSYLE	NETNANYISIVDQHETEIFKTSYLE	1.0	2.0	unscreened	-	4037_11:89880670-89880670 G>C_NETNANYISIVDQHETEIFKTSYLE
5:35876485-35876485 T>A	0.0	4037	LUNG	-	-	-	1	IL7R	NM_002185,p.L426Q|uc003jjs.4,p.L426Q|ENST00000303115,p.L426Q|ENST00000505875,p.L192Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jjs.4	nonsynonymous SNV	exon8	c.T1277A	p.L426Q	TLPPPFSLQSGILTLNPVAQGQPIL	TLPPPFSLQSGIQTLNPVAQGQPIL	6.0	3.0	unscreened	-	4037_5:35876485-35876485 T>A_TLPPPFSLQSGIQTLNPVAQGQPIL
2:234368937-234368937 A>C	1.0	4037	LUNG	-	-	-	-	DGKD	uc002vuj.1,p.E932A|uc002vui.1,p.E976A|ENST00000264057,p.E976A|NM_152879,p.E976A|ENST00000409813,p.E932A|NM_003648,p.E932A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002vuj.1	nonsynonymous SNV	exon23	c.A2795C	p.E932A	PSCSLHPEMLSEEEATQMDQFGQAA	PSCSLHPEMLSEAEATQMDQFGQAA	7.0	6.0	unscreened	-	4037_2:234368937-234368937 A>C_PSCSLHPEMLSEAEATQMDQFGQAA
18:5890882-5890882 G>A	0.0	4037	LUNG	-	-	-	-	TMEM200C	ENST00000581347,p.A394V|NM_001080209,p.A394V|ENST00000383490,p.A394V|uc002kmx.1,p.A394V	protein_coding	uc002kmx.1	nonsynonymous SNV	exon1	c.C1181T	p.A394V	LPLQGGRDRGGDAEGASCSWQRPPG	LPLQGGRDRGGDVEGASCSWQRPPG	3.0	10.0	unscreened	-	4037_18:5890882-5890882 G>A_LPLQGGRDRGGDVEGASCSWQRPPG
1:39877598-39877598 T>G	0.0	4037	LUNG	-	-	-	-	KIAA0754	NM_015038,p.L554R|uc009vvt.1,p.L554R|ENST00000530275,p.L418R	protein_coding	uc009vvt.1	nonsynonymous SNV	exon1	c.T1661G	p.L554R	TLDSSQVPNAVELIAHVDIMRDTST	TLDSSQVPNAVERIAHVDIMRDTST	4.0	5.0	unscreened	-	4037_1:39877598-39877598 T>G_TLDSSQVPNAVERIAHVDIMRDTST
14:62463147-62463147 T>G	0.0	4037	LUNG	-	-	-	-	SYT16	ENST00000555409,p.L137R|uc001xfu.1,p.L137R|NM_031914,p.L137R|ENST00000430451,p.L137R|uc010tsd.1,p.L137R|ENST00000446982,p.L137R	protein_coding, nonsense_mediated_decay	uc010tsd.1	nonsynonymous SNV	exon2	c.T410G	p.L137R	NWASDDRKLPHVLSSIAEEEHHLEK	NWASDDRKLPHVRSSIAEEEHHLEK	1.0	6.0	unscreened	-	4037_14:62463147-62463147 T>G_NWASDDRKLPHVRSSIAEEEHHLEK
21:31654839-31654839 C>G	0.0	4037	LUNG	-	-	-	-	KRTAP24-1	uc002ynv.3,p.A138P|ENST00000340345,p.A138P|NM_001085455,p.A138P	protein_coding	uc002ynv.3	nonsynonymous SNV	exon1	c.G412C	p.A138P	GYVCNCHIPTRNASKACQTLRNGSN	GYVCNCHIPTRNPSKACQTLRNGSN	1.0	9.0	unscreened	-	4037_21:31654839-31654839 C>G_GYVCNCHIPTRNPSKACQTLRNGSN
7:100369638-100369638 T>C	0.0	4037	LUNG	-	-	-	-	ZAN	ENST00000538115,p.F1807S|ENST00000546292,p.F1807S|uc003uwk.3,p.F1807S|ENST00000542585,p.F1807S|uc003uwj.3,p.F1807S|ENST00000546213,p.F384S|uc011kkd.1,p.F384S	protein_coding, polymorphic_pseudogene	uc011kkd.1	nonsynonymous SNV	exon8	c.T1151C	p.F384S	QAGQAPAWRNRTFCPMRCPPGSSYS	QAGQAPAWRNRTSCPMRCPPGSSYS	1.0	7.0	unscreened	-	4037_7:100369638-100369638 T>C_QAGQAPAWRNRTSCPMRCPPGSSYS
10:76818244-76818244 A>G	0.0	4037	LUNG	-	-	-	-	DUPD1	NM_001003892,p.L10P|uc001jwq.1,p.L10P|ENST00000338487,p.L10P	protein_coding	uc001jwq.1	nonsynonymous SNV	exon1	c.T29C	p.L10P	MTSGEVKTSLKNAYSSAKRLSP	MTSGEVKTSPKNAYSSAKRLSP	1.0	6.0	unscreened	-	4037_10:76818244-76818244 A>G_MTSGEVKTSPKNAYSSAKRLSP
3:195505762-195505762 A>T	0.0	4037	LUNG	-	-	-	2	MUC4	ENST00000480843,p.L4230H|NM_018406,p.L4230H|ENST00000478156,p.L4230H|ENST00000475231,p.L4230H|ENST00000477086,p.L4230H|ENST00000463781,p.L4230H|ENST00000479406,p.L4230H|ENST00000462323,p.L4230H|uc021xjp.1,p.L4230H|ENST00000477756,p.L4230H|ENST00000470451,p.L4230H|ENST00000466475,p.L4230H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.T12689A	p.L4230H	STGHATPLPVTSLSSVSTGHATPLA	STGHATPLPVTSHSSVSTGHATPLA	1.0	8.0	unscreened	-	4037_3:195505762-195505762 A>T_STGHATPLPVTSHSSVSTGHATPLA
6:29364759-29364759 T>G	0.0	4037	LUNG	-	-	-	-	OR12D2	uc003nmf.4,p.C95G|ENST00000383555,p.C95G|NM_013936,p.C95G	protein_coding	uc003nmf.4	nonsynonymous SNV	exon1	c.T283G	p.C95G	FLSTHKAISFLGCISQLHFFHSLGS	FLSTHKAISFLGGISQLHFFHSLGS	1.0	4.0	unscreened	-	4037_6:29364759-29364759 T>G_FLSTHKAISFLGGISQLHFFHSLGS
19:58849701-58849701 A>G	0.0	4037	LUNG	-	-	-	-	ZSCAN22	NM_181846,p.E162G|ENST00000329665,p.E162G|uc002qsc.2,p.E162G	protein_coding	uc002qsc.2	nonsynonymous SNV	exon3	c.A485G	p.E162G	SDLGESEPSNVTETLMGGVSLGPAF	SDLGESEPSNVTGTLMGGVSLGPAF	3.0	5.0	unscreened	-	4037_19:58849701-58849701 A>G_SDLGESEPSNVTGTLMGGVSLGPAF
11:118014611-118014611 T>C	0.0	4037	LUNG	-	-	-	-	SCN4B	uc010rxu.2,p.K24E|ENST00000324727,p.K134E|uc001pse.3,p.K134E|NM_001142349,p.K24E|NM_174934,p.K134E	retained_intron, protein_coding, processed_transcript	uc010rxu.2	nonsynonymous SNV	exon2	c.A70G	p.K24E	EFSDTGKYTCHVKNPKENNLQHHAT	EFSDTGKYTCHVENPKENNLQHHAT	3.0	9.0	unscreened	-	4037_11:118014611-118014611 T>C_EFSDTGKYTCHVENPKENNLQHHAT
3:151474922-151474922 T>C	0.0	4037	LUNG	-	-	-	-	AADACL2	uc003ezc.3,p.L249P|ENST00000356517,p.L249P|uc010hvn.3,p.L36P|NM_207365,p.L249P	protein_coding, nonsense_mediated_decay	uc010hvn.3	nonsynonymous SNV	exon4	c.T107C	p.L36P	HGIVLTRDVAIKLVSLYFTKDEALP	HGIVLTRDVAIKPVSLYFTKDEALP	1.0	8.0	unscreened	-	4037_3:151474922-151474922 T>C_HGIVLTRDVAIKPVSLYFTKDEALP
6:25557062-25557062 A>G	0.0	4037	LUNG	-	-	-	-	LRRC16A	NM_001173977,p.D909G|uc010jpy.3,p.D909G|NM_017640,p.D909G|uc011djw.2,p.D909G|ENST00000329474,p.D909G	protein_coding, processed_transcript	uc011djw.2	nonsynonymous SNV	exon29	c.A2726G	p.D909G	TVEELTEIERLEDLDTCMMTPKSKR	TVEELTEIERLEGLDTCMMTPKSKR	6.0	3.0	unscreened	-	4037_6:25557062-25557062 A>G_TVEELTEIERLEGLDTCMMTPKSKR
19:53456012-53456012 T>G	0.0	4037	LUNG	-	-	-	-	ZNF816,ZNF816-ZNF321P	ENST00000270457,p.E61A|ENST00000535506,p.E61A	protein_coding	ENST00000535506	nonsynonymous SNV	exon3	c.A182C	p.E61A	YRAVMLENYRNLEFVGEENVPPDMR	YRAVMLENYRNLAFVGEENVPPDMR	7.0	1.0	unscreened	-	4037_19:53456012-53456012 T>G_YRAVMLENYRNLAFVGEENVPPDMR
16:88871031-88871031 C>T	0.0	4037	LUNG	-	-	-	-	CDT1	ENST00000301019,p.P103S|uc002flu.3,p.P103S|NM_030928,p.P103S	retained_intron, protein_coding	uc002flu.3	nonsynonymous SNV	exon2	c.C307T	p.P103S	CPSPGQKIKKSTPAAGQPPHLTSAQ	CPSPGQKIKKSTSAAGQPPHLTSAQ	7.0	6.0	unscreened	-	4037_16:88871031-88871031 C>T_CPSPGQKIKKSTSAAGQPPHLTSAQ
19:56407430-56407430 T>C	0.0	4037	LUNG	-	-	-	-	NLRP13	NM_176810,p.S1005G|ENST00000588751,p.S1005G|ENST00000342929,p.S1005G|uc010ygg.2,p.S1005G	protein_coding	uc010ygg.2	nonsynonymous SNV	exon11	c.A3013G	p.S1005G	TTACCQHLFSVLSSSKSLVNLNLLG	TTACCQHLFSVLGSSKSLVNLNLLG	1.0	3.0	unscreened	-	4037_19:56407430-56407430 T>C_TTACCQHLFSVLGSSKSLVNLNLLG
13:53008945-53008945 T>G	1.0	4037	LUNG	-	-	-	-	VPS36	NM_016075,p.T142P|uc001vgs.3,p.T142P|NM_001282168,p.T133P|ENST00000378060,p.T142P|NM_001282169,p.T84P|uc001vgq.3,p.T84P	retained_intron, protein_coding, processed_transcript	uc001vgs.3	nonsynonymous SNV	exon5	c.A424C	p.T142P	RWENMPVSQSLQTNRGPQPGRIRAV	RWENMPVSQSLQPNRGPQPGRIRAV	9.0	7.0	unscreened	-	4037_13:53008945-53008945 T>G_RWENMPVSQSLQPNRGPQPGRIRAV
15:91519945-91519945 T>G	1.0	4037	LUNG	-	-	-	-	PRC1	NM_199413,p.E388D|uc002bqm.4,p.E388D|ENST00000361188,p.E388D|NM_003981,p.E388D|NM_001267580,p.E347D|ENST00000442656,p.E347D|ENST00000361919,p.E388D|uc010uqs.3,p.E347D|ENST00000394249,p.E388D|uc002bqn.4,p.E388D	retained_intron, protein_coding, processed_transcript	uc010uqs.3	nonsynonymous SNV	exon8	c.A1041C	p.E347D	NRFTNRGGNLLKEEKQRAKLQKMLP	NRFTNRGGNLLKDEKQRAKLQKMLP	10.0	6.0	unscreened	-	4037_15:91519945-91519945 T>G_NRFTNRGGNLLKDEKQRAKLQKMLP
1:144816484-144816484 A>G	0.0	4037	LUNG	-	-	-	-	NBPF8,NBPF9	ENST00000338347,p.K206R|uc021ouf.1,p.K124R|ENST00000440491,p.K206R|uc009wii.1,p.K193R|uc010oxo.2,p.K464R	protein_coding, processed_transcript	uc021ouf.1	nonsynonymous SNV	exon5	c.A371G	p.K124R	KVQKSSAPREMQKAEEKEVPEDSLE	KVQKSSAPREMQRAEEKEVPEDSLE	9.0	8.0	unscreened	-	4037_1:144816484-144816484 A>G_KVQKSSAPREMQRAEEKEVPEDSLE
2:47748842-47748842 T>C	0.0	4037	LUNG	-	-	-	-	KCNK12	ENST00000327876,p.E166G|uc002rwb.3,p.E166G|NM_022055,p.E166G	protein_coding, processed_transcript	uc002rwb.3	nonsynonymous SNV	exon2	c.A497G	p.E166G	CAGTILFFNLFLERIISLLAFIMRA	CAGTILFFNLFLGRIISLLAFIMRA	2.0	1.0	unscreened	-	4037_2:47748842-47748842 T>C_CAGTILFFNLFLGRIISLLAFIMRA
1:156823967-156823967 T>C	0.0	4037	LUNG	-	-	-	-	INSRR	uc009wsj.2,p.S72G|ENST00000368195,p.S72G|uc010pht.2,p.S72G|NM_014215,p.S72G	protein_coding	uc010pht.2	nonsynonymous SNV	exon2	c.A214G	p.S72G	MFTATGEDFRGLSFPRLTQVTDYLL	MFTATGEDFRGLGFPRLTQVTDYLL	1.0	5.0	unscreened	-	4037_1:156823967-156823967 T>C_MFTATGEDFRGLGFPRLTQVTDYLL
8:68934278-68934278 A>G	0.0	4037	LUNG	-	-	-	1	PREX2	uc003xxv.1,p.K115R|NM_024870,p.K115R|ENST00000288368,p.K115R|uc003xxu.1,p.K115R|NM_025170,p.K115R	protein_coding, processed_transcript	uc003xxv.1	nonsynonymous SNV	exon4	c.A344G	p.K115R	QEVGTCFLHFKDKFRIYDEYCSNHE	QEVGTCFLHFKDRFRIYDEYCSNHE	2.0	3.0	unscreened	-	4037_8:68934278-68934278 A>G_QEVGTCFLHFKDRFRIYDEYCSNHE
7:133886295-133886295 G>A	0.0	4037	LUNG	-	-	-	-	LRGUK	uc003vrm.1,p.E604K|ENST00000285928,p.E604K|NM_144648,p.E604K	protein_coding, processed_transcript	uc003vrm.1	nonsynonymous SNV	exon15	c.G1810A	p.E604K	LSQLIREYLGLTEEPAKSLATTADV	LSQLIREYLGLTKEPAKSLATTADV	1.0	1.0	unscreened	-	4037_7:133886295-133886295 G>A_LSQLIREYLGLTKEPAKSLATTADV
7:82583613-82583613 T>A	0.0	4037	LUNG	-	-	-	-	PCLO	uc003uhx.2,p.K2219I|NM_033026,p.K2219I|ENST00000333891,p.K2219I|uc003uhv.2,p.K2219I|NM_014510,p.K2219I|ENST00000423517,p.K2219I	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon5	c.A6656T	p.K2219I	TTVYTEPVDMITKFEDSEEISSSTY	TTVYTEPVDMITIFEDSEEISSSTY	1.0	1.0	unscreened	-	4037_7:82583613-82583613 T>A_TTVYTEPVDMITIFEDSEEISSSTY
1:176659592-176659593 TC>-	0.0	4037	LUNG	-	-	-	-	PAPPA2	NM_021936,p.F819fs|ENST00000367661,p.F819fs|uc001gky.1,p.F819fs	protein_coding, processed_transcript	uc001gky.1	frameshift deletion	exon5	c.2457_2458del	p.F819fs	MSYTGITTVLFCFLLRIHGGL	MSYTGITTVLFCFVKNTWGPL	1.0	3.0	unscreened	-	4037_1:176659592-176659593 TC>-_MSYTGITTVLFCFVKNTWGPL
1:157497516-157497516 T>G	0.0	4037	LUNG	-	-	-	-	FCRL5	NM_001195388,p.E617D|NM_031281,p.E617D|uc001fqu.3,p.E617D|ENST00000356953,p.E617D|uc009wsm.3,p.E617D|ENST00000368191,p.E532D|ENST00000368190,p.E617D|ENST00000361835,p.E617D|uc010phw.1,p.E532D|uc010phv.1,p.E617D	protein_coding, processed_transcript	uc010phw.1	nonsynonymous SNV	exon8	c.A1596C	p.E532D	VTLGSSSAPSGGEASFNLSLTAEHS	VTLGSSSAPSGGDASFNLSLTAEHS	4.0	7.0	unscreened	-	4037_1:157497516-157497516 T>G_VTLGSSSAPSGGDASFNLSLTAEHS
8:131862003-131862003 A>C	0.0	4037	LUNG	-	-	-	-	ADCY8	NM_001115,p.S753A|ENST00000286355,p.S753A|uc003ytd.4,p.S753A	protein_coding	uc003ytd.4	nonsynonymous SNV	exon10	c.T2257G	p.S753A	MTIQFSILIMLHSALVLITTAEDYK	MTIQFSILIMLHAALVLITTAEDYK	1.0	1.0	unscreened	-	4037_8:131862003-131862003 A>C_MTIQFSILIMLHAALVLITTAEDYK
14:25043994-25043994 C>T	0.0	4037	LUNG	-	-	-	-	CTSG	ENST00000216336,p.A76T|uc001wpq.3,p.A76T|NM_001911,p.A76T	retained_intron, protein_coding	uc001wpq.3	nonsynonymous SNV	exon3	c.G226A	p.A76T	HCWGSNINVTLGAHNIQRRENTQQH	HCWGSNINVTLGTHNIQRRENTQQH	1.0	10.0	-	-	4037_14:25043994-25043994 C>T_HCWGSNINVTLGTHNIQRRENTQQH
15:66727505-66727505 T>C	1.0	4037	LUNG	-	-	-	1	MAP2K1	uc010bhq.3,p.L74P|NM_002755,p.L74P|uc010ujp.2,p.L52P|ENST00000307102,p.L74P	retained_intron, protein_coding	uc010ujp.2	nonsynonymous SNV	exon2	c.T155C	p.L52P	ELKDDDFEKISELGAGNGGVVFKVS	ELKDDDFEKISEPGAGNGGVVFKVS	9.0	7.0	unscreened	-	4037_15:66727505-66727505 T>C_ELKDDDFEKISEPGAGNGGVVFKVS
15:85188813-85188813 G>C	1.0	4037	LUNG	-	-	-	-	WDR73	uc002bky.1,p.R102T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bky.1	nonsynonymous SNV	exon1	c.G305C	p.R102T	DTGHWTELTGWQRSRGSRRQRRPSE	DTGHWTELTGWQTSRGSRRQRRPSE	7.0	10.0	unscreened	-	4037_15:85188813-85188813 G>C_DTGHWTELTGWQTSRGSRRQRRPSE
11:93436032-93436032 T>G	1.0	4037	LUNG	-	-	-	-	CEP295	uc009ywb.1,p.L1848R|ENST00000325212,p.L1848R|ENST00000411936,p.L1848R|NM_033395,p.L1848R	protein_coding, processed_transcript	uc009ywb.1	nonsynonymous SNV	exon17	c.T5543G	p.L1848R	KVKCGLDLNQHELSAIQEVESPAIG	KVKCGLDLNQHERSAIQEVESPAIG	7.0	7.0	unscreened	-	4037_11:93436032-93436032 T>G_KVKCGLDLNQHERSAIQEVESPAIG
X:77224843-77224843 A>C	0.0	4037	LUNG	-	-	-	-	PGAM4	NM_001029891,p.L98R|uc004ecy.1,p.L98R|ENST00000458128,p.L98R	protein_coding	uc004ecy.1	nonsynonymous SNV	exon1	c.T293G	p.L98R	RLNERHYGGLTGLNKAETAAKHGEA	RLNERHYGGLTGRNKAETAAKHGEA	5.0	4.0	unscreened	-	4037_X:77224843-77224843 A>C_RLNERHYGGLTGRNKAETAAKHGEA
1:200709081-200709081 A>C	0.0	4037	LUNG	-	-	-	-	CAMSAP2	NM_001297708,p.K42N|uc001gvk.3,p.K42N|uc001gvl.3,p.K42N|ENST00000358823,p.K42N|NM_203459,p.K42N|ENST00000236925,p.K42N|NM_001297707,p.K42N|ENST00000413307,p.K42N|uc001gvm.3,p.K42N	retained_intron, protein_coding, nonsense_mediated_decay	uc001gvm.3	nonsynonymous SNV	exon1	c.A126C	p.K42N	AKIACNLAWLVAKAFGTENVPEELQ	AKIACNLAWLVANAFGTENVPEELQ	7.0	4.0	unscreened	-	4037_1:200709081-200709081 A>C_AKIACNLAWLVANAFGTENVPEELQ
21:38532029-38532029 A>C	1.0	4037	LUNG	-	-	-	-	TTC3	ENST00000354749,p.Q1007H|NM_001001894,p.Q1007H|uc002ywc.3,p.Q697H|NM_003316,p.Q1007H|uc011aee.1,p.Q697H|ENST00000355666,p.Q1007H|uc002ywb.3,p.Q1007H|uc002ywa.3,p.Q1007H|uc002ywd.1,p.Q71H|ENST00000399017,p.Q1007H|ENST00000438055,p.Q989H|ENST00000418766,p.Q1007H|uc010gnf.3,p.Q772H|uc002yvz.3,p.Q1007H	retained_intron, protein_coding, processed_transcript	uc011aee.1	nonsynonymous SNV	exon21	c.A2091C	p.Q697H	DIMDSRCTVLRKQDSGEAPFSSTKV	DIMDSRCTVLRKHDSGEAPFSSTKV	10.0	2.0	unscreened	-	4037_21:38532029-38532029 A>C_DIMDSRCTVLRKHDSGEAPFSSTKV
2:202257755-202257755 T>G	1.0	4037	LUNG	-	-	-	-	TRAK2	uc002uyb.4,p.Q330H|NM_015049,p.Q330H|ENST00000332624,p.Q330H	retained_intron, protein_coding, processed_transcript	uc002uyb.4	nonsynonymous SNV	exon10	c.A990C	p.Q330H	AQRQLTMELHELQDRNMECLGMLHE	AQRQLTMELHELHDRNMECLGMLHE	7.0	4.0	unscreened	-	4037_2:202257755-202257755 T>G_AQRQLTMELHELHDRNMECLGMLHE
2:160676352-160676352 C>A	0.0	4037	LUNG	-	-	-	-	LY75,LY75-CD302	ENST00000554112,p.E1346D|uc002ubb.4,p.E1346D|ENST00000504764,p.E1346D|ENST00000553424,p.E1346D|uc002ubc.4,p.E1346D|NM_001198759,p.E1346D|ENST00000263636,p.E1346D|uc010fos.3,p.E1346D|NM_002349,p.E1346D|NM_001198760,p.E1346D|ENST00000505052,p.E1346D	retained_intron, protein_coding, processed_transcript	uc010fos.3	nonsynonymous SNV	exon29	c.G4038T	p.E1346D	THWRAGRPTIKNEKFLAGLSTDGFW	THWRAGRPTIKNDKFLAGLSTDGFW	5.0	3.0	unscreened	-	4037_2:160676352-160676352 C>A_THWRAGRPTIKNDKFLAGLSTDGFW
6:42893355-42893355 T>C	0.0	4037	LUNG	-	-	-	-	PTCRA	ENST00000446507,p.S154P|NM_138296,p.S261P|uc010jxz.3,p.S154P|NM_001243168,p.S276P|ENST00000441198,p.S236P|NM_001243170,p.S154P|uc003osx.3,p.S261P|uc021yzp.1,p.S276P|ENST00000304672,p.S261P|NM_001243169,p.S236P|uc010jxy.3,p.S236P	protein_coding	uc021yzp.1	nonsynonymous SNV	exon4	c.T826C	p.S276P	QAWCSRSALRAPSSSLGAFFAGDLP	QAWCSRSALRAPPSSLGAFFAGDLP	1.0	3.0	unscreened	-	4037_6:42893355-42893355 T>C_QAWCSRSALRAPPSSLGAFFAGDLP
4:1087355-1087355 A>G	0.0	4037	LUNG	-	-	-	-	RNF212	NM_001193318,p.S232P|uc021xkh.1,p.S232P|ENST00000333673,p.S232P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xkh.1	nonsynonymous SNV	exon4	c.T694C	p.S232P	PPATCLLCLSCLSGFRHGPWRSQAL	PPATCLLCLSCLPGFRHGPWRSQAL	1.0	4.0	unscreened	-	4037_4:1087355-1087355 A>G_PPATCLLCLSCLPGFRHGPWRSQAL
1:175086293-175086293 C>A	0.0	4037	LUNG	-	-	-	-	TNN	uc001gkl.1,p.Q780K|NM_022093,p.Q780K|ENST00000239462,p.Q780K	protein_coding	uc001gkl.1	nonsynonymous SNV	exon10	c.C2338A	p.Q780K	RPGVEYTVHVWAQKGAQESKKADTK	RPGVEYTVHVWAKKGAQESKKADTK	1.0	10.0	unscreened	-	4037_1:175086293-175086293 C>A_RPGVEYTVHVWAKKGAQESKKADTK
X:48687655-48687655 A>G	0.0	4037	LUNG	-	-	-	-	ERAS	ENST00000338270,p.E41G|uc004dky.2,p.E41G|uc031tjl.1,p.E41G|NM_181532,p.E41G	protein_coding	uc031tjl.1	nonsynonymous SNV	exon2	c.A122G	p.E41G	QARRRDVGRQLPEYKAVVVGASGVG	QARRRDVGRQLPGYKAVVVGASGVG	2.0	5.0	unscreened	-	4037_X:48687655-48687655 A>G_QARRRDVGRQLPGYKAVVVGASGVG
8:144995996-144995996 T>C	1.0	4037	LUNG	-	-	-	-	PLEC	ENST00000354958,p.S2643G|ENST00000322810,p.S2802G|NM_201381,p.S2633G|ENST00000345136,p.S2665G|ENST00000527096,p.S2688G|NM_000445,p.S2692G|NM_201384,p.S2665G|NM_201379,p.S2643G|ENST00000436759,p.S2692G|ENST00000398774,p.S2633G|uc003zah.2,p.S2651G|NM_201378,p.S2651G|uc003zaj.2,p.S2692G|ENST00000354589,p.S2665G|NM_201382,p.S2665G|uc003zab.1,p.S2665G|uc003zae.1,p.S2633G|ENST00000356346,p.S2651G|uc003zag.1,p.S2643G|uc003zad.2,p.S2665G|uc003zac.1,p.S2669G|ENST00000357649,p.S2669G|uc003zaf.1,p.S2802G|NM_201380,p.S2802G|NM_201383,p.S2669G	retained_intron, protein_coding	uc003zaj.2	nonsynonymous SNV	exon33	c.A8074G	p.S2692G	VSAQRLQEAGILSAEELQRLAQGHT	VSAQRLQEAGILGAEELQRLAQGHT	10.0	1.0	unscreened	-	4037_8:144995996-144995996 T>C_VSAQRLQEAGILGAEELQRLAQGHT
2:157183409-157183409 T>G	0.0	4037	LUNG	-	-	-	-	NR4A2	uc021vri.1,p.Q369H	protein_coding, nonsense_mediated_decay	uc021vri.1	nonsynonymous SNV	exon4	c.A1107C	p.Q369H	PPSPPFQANPDYQMSGDDTQHIQQF	PPSPPFQANPDYHMSGDDTQHIQQF	6.0	8.0	unscreened	-	4037_2:157183409-157183409 T>G_PPSPPFQANPDYHMSGDDTQHIQQF
19:12430059-12430059 T>G	0.0	4037	LUNG	-	-	ID=COSM219538;OCCURENCE=1(breast)	-	ZNF563	ENST00000595977,p.K221T|uc002mtq.2,p.K221T	protein_coding	uc002mtq.2	nonsynonymous SNV	exon5	c.A662C	p.K221T	LGRNRMNVSSVLKPCLIPVPI	LGRNRMNVSSVLTPCLIPVPI	4.0	7.0	unscreened	-	4037_19:12430059-12430059 T>G_LGRNRMNVSSVLTPCLIPVPI
8:110465091-110465091 T>G	0.0	4037	LUNG	-	-	-	-	PKHD1L1	uc003yne.3,p.L2218V|ENST00000378402,p.L2218V|NM_177531,p.L2218V	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon43	c.T6652G	p.L2218V	ILLDQSTPILKMLLIQGGTLIFDEA	ILLDQSTPILKMVLIQGGTLIFDEA	1.0	7.0	unscreened	-	4037_8:110465091-110465091 T>G_ILLDQSTPILKMVLIQGGTLIFDEA
7:151864448-151864448 T>G	0.0	4037	LUNG	-	-	-	1	KMT2C	uc003wla.3,p.K3178T|uc003wky.3,p.K687T|ENST00000262189,p.K3178T|NM_170606,p.K3178T|ENST00000355193,p.K3178T|uc003wkz.3,p.K2239T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003wla.3	nonsynonymous SNV	exon42	c.A9533C	p.K3178T	NFGPGFVNDSQRKQYEEWLQETQQL	NFGPGFVNDSQRTQYEEWLQETQQL	8.0	3.0	unscreened	-	4037_7:151864448-151864448 T>G_NFGPGFVNDSQRTQYEEWLQETQQL
15:83686939-83686939 T>A	1.0	4037	LUNG	-	-	-	-	BTBD1	uc002bjn.3,p.K443N|ENST00000261721,p.K443N|NM_025238,p.K443N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bjn.3	nonsynonymous SNV	exon8	c.A1329T	p.K443N	GPDSHYGTKGLKKVVHETPAASKTV	GPDSHYGTKGLKNVVHETPAASKTV	9.0	6.0	unscreened	-	4037_15:83686939-83686939 T>A_GPDSHYGTKGLKNVVHETPAASKTV
3:46542259-46542259 A>G	0.0	4037	LUNG	-	-	-	-	RTP3	uc003cps.1,p.K190R|NM_031440,p.K190R|ENST00000296142,p.K190R	protein_coding	uc003cps.1	nonsynonymous SNV	exon2	c.A569G	p.K190R	RVHSIYKVEEVVKPWASGENVYSYA	RVHSIYKVEEVVRPWASGENVYSYA	1.0	3.0	unscreened	-	4037_3:46542259-46542259 A>G_RVHSIYKVEEVVRPWASGENVYSYA
19:58944844-58944844 T>C	0.0	4037	LUNG	-	-	-	-	ZNF132	NM_003433,p.E656G|ENST00000254166,p.E656G|uc002qst.4,p.E656G	retained_intron, protein_coding	uc002qst.4	nonsynonymous SNV	exon3	c.A1967G	p.E656G	RHQRVHTQERPYECIQCGKAFSERS	RHQRVHTQERPYGCIQCGKAFSERS	2.0	5.0	unscreened	-	4037_19:58944844-58944844 T>C_RHQRVHTQERPYGCIQCGKAFSERS
20:30345290-30345290 T>G	1.0	4037	LUNG	-	-	-	-	TPX2	ENST00000340513,p.V4G|uc010gdv.1,p.V4G|NM_012112,p.V4G|uc002wwp.1,p.V4G|ENST00000300403,p.V4G	protein_coding	uc010gdv.1	nonsynonymous SNV	exon3	c.T11G	p.V4G	MSQVKSSYSYDAPSDF	MSQGKSSYSYDAPSDF	9.0	5.0	unscreened	-	4037_20:30345290-30345290 T>G_MSQGKSSYSYDAPSDF
16:1245559-1245559 T>C	0.0	4037	LUNG	-	-	-	-	CACNA1H	uc002ckt.3,p.V180A|ENST00000358590,p.V180A|ENST00000348261,p.V180A|NM_001005407,p.V180A|NM_021098,p.V180A|ENST00000565831,p.V180A|uc002cks.3,p.V180A	retained_intron, protein_coding	uc002ckt.3	nonsynonymous SNV	exon4	c.T539C	p.V180A	GDTWNRLDFFIVVAGMMEYSLDGHN	GDTWNRLDFFIVAAGMMEYSLDGHN	4.0	8.0	unscreened	-	4037_16:1245559-1245559 T>C_GDTWNRLDFFIVAAGMMEYSLDGHN
3:89259189-89259189 G>T	0.0	4037	LUNG	-	-	-	2	EPHA3	NM_182644,p.L111F|uc021xbf.1,p.L111F|uc003dqy.3,p.L111F|uc003dqx.1,p.L111F|ENST00000494014,p.L111F|NM_005233,p.L111F|ENST00000452448,p.L111F|ENST00000336596,p.L111F	protein_coding	uc021xbf.1	nonsynonymous SNV	exon3	c.G333T	p.L111F	LKFTLRDCNSIPLVLGTCKETFNLY	LKFTLRDCNSIPFVLGTCKETFNLY	5.0	3.0	unscreened	-	4037_3:89259189-89259189 G>T_LKFTLRDCNSIPFVLGTCKETFNLY
2:167060665-167060665 A>G	0.0	4037	LUNG	-	-	-	-	SCN9A	ENST00000375387,p.I1526T|NM_002977,p.I1514T|uc010fpl.3,p.I1514T|ENST00000409435,p.I1525T|ENST00000409672,p.I1514T|ENST00000303354,p.I1526T	retained_intron, protein_coding	uc010fpl.3	nonsynonymous SNV	exon26	c.T4541C	p.I1514T	TNQAFDISIMVLICLNMVTMMVEKE	TNQAFDISIMVLTCLNMVTMMVEKE	1.0	10.0	unscreened	-	4037_2:167060665-167060665 A>G_TNQAFDISIMVLTCLNMVTMMVEKE
14:21424210-21424210 A>C	0.0	4037	LUNG	-	-	-	-	RNASE2	NM_002934,p.T94P|uc021ros.1,p.T94P|ENST00000304625,p.T94P|uc001vyl.1,p.T94P|uc010aif.2,p.T94P	protein_coding	uc021ros.1	nonsynonymous SNV	exon1	c.A280C	p.T94P	CGNPNMTCPSNKTRKNCHHSGSQVP	CGNPNMTCPSNKPRKNCHHSGSQVP	3.0	8.0	unscreened	-	4037_14:21424210-21424210 A>C_CGNPNMTCPSNKPRKNCHHSGSQVP
5:31316318-31316318 A>C	0.0	4037	LUNG	-	-	-	-	CDH6	uc003jhe.2,p.N465T|ENST00000265071,p.N465T|ENST00000514738,p.N410T|NM_004932,p.N465T|uc003jhd.2,p.N465T	retained_intron, protein_coding	uc003jhe.2	nonsynonymous SNV	exon9	c.A1394C	p.N465T	WHNITVIATEINNPKQSSRVPLYIK	WHNITVIATEINTPKQSSRVPLYIK	3.0	8.0	unscreened	-	4037_5:31316318-31316318 A>C_WHNITVIATEINTPKQSSRVPLYIK
1:90178992-90178992 A>T	0.0	4037	LUNG	-	-	-	-	LRRC8C	uc001dnl.4,p.Q288L|NM_032270,p.Q288L|ENST00000370454,p.Q288L	protein_coding, processed_transcript, nonsense_mediated_decay	uc001dnl.4	nonsynonymous SNV	exon3	c.A863T	p.Q288L	IIAYNSALVSKVQFTVDCNVDIQDM	IIAYNSALVSKVLFTVDCNVDIQDM	5.0	9.0	unscreened	-	4037_1:90178992-90178992 A>T_IIAYNSALVSKVLFTVDCNVDIQDM
8:131949376-131949376 C>A	0.0	4037	LUNG	-	-	ID=COSM3951290;OCCURENCE=1(lung)	-	ADCY8	ENST00000377928,p.R475L|NM_001115,p.R475L|uc003ytd.4,p.R475L|ENST00000286355,p.R475L|ENST00000522949,p.R90L|uc010mds.3,p.R475L	protein_coding	uc010mds.3	nonsynonymous SNV	exon5	c.G1424T	p.R475L	DCYYCVSGLPEPRQDHAHCCVEMGL	DCYYCVSGLPEPLQDHAHCCVEMGL	1.0	10.0	unscreened	-	4037_8:131949376-131949376 C>A_DCYYCVSGLPEPLQDHAHCCVEMGL
X:152914692-152914692 T>G	1.0	4037	LUNG	-	-	-	-	DUSP9	uc004fhy.4,p.F127V|ENST00000370167,p.F127V|uc004fhx.4,p.F127V|ENST00000342782,p.F127V|NM_001395,p.F127V	protein_coding, processed_transcript	uc004fhy.4	nonsynonymous SNV	exon3	c.T379G	p.F127V	EEGYLAYYLQGGFSRFQAECPHLCE	EEGYLAYYLQGGVSRFQAECPHLCE	5.0	7.0	unscreened	-	4037_X:152914692-152914692 T>G_EEGYLAYYLQGGVSRFQAECPHLCE
1:152130293-152130293 A>G	0.0	4037	LUNG	-	-	-	-	RPTN	ENST00000316073,p.C25R|uc001ezs.1,p.C25R|NM_001122965,p.C25R	protein_coding	uc001ezs.1	nonsynonymous SNV	exon2	c.T73C	p.C25R	DVFHKYAKGNGDCALLCKEELKQLL	DVFHKYAKGNGDRALLCKEELKQLL	1.0	1.0	unscreened	-	4037_1:152130293-152130293 A>G_DVFHKYAKGNGDRALLCKEELKQLL
19:56284240-56284240 T>G	0.0	4037	LUNG	-	-	-	-	RFPL4AL1	uc031rnc.1,p.L187V|ENST00000341750,p.L187V|NM_001277397,p.L187V	protein_coding	uc031rnc.1	nonsynonymous SNV	exon2	c.T559G	p.L187V	QGKIELSSEHGFLTVGCREGKVFAA	QGKIELSSEHGFVTVGCREGKVFAA	1.0	7.0	unscreened	-	4037_19:56284240-56284240 T>G_QGKIELSSEHGFVTVGCREGKVFAA
2:202436738-202436738 T>G	0.0	4037	LUNG	-	-	-	-	ALS2CR11	NM_001168217,p.K253N|NM_152525,p.K253N|NM_001168216,p.K253N|uc010fti.3,p.K253N|ENST00000439140,p.K253N|uc002uye.3,p.K253N|ENST00000286195,p.K253N|ENST00000439802,p.K253N|NM_001168221,p.K253N|uc021vvc.1,p.K253N|ENST00000450242,p.K253N|uc002uyf.3,p.K253N	protein_coding, processed_transcript	uc021vvc.1	nonsynonymous SNV	exon8	c.A759C	p.K253N	YGNFGYGFSHQLKPLQKITEPSMFM	YGNFGYGFSHQLNPLQKITEPSMFM	1.0	9.0	unscreened	-	4037_2:202436738-202436738 T>G_YGNFGYGFSHQLNPLQKITEPSMFM
9:18777244-18777244 G>T	0.0	4037	LUNG	-	-	-	-	ADAMTSL1	NM_001040272,p.S1006I|ENST00000380548,p.S1006I|uc003zne.4,p.S1006I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zne.4	nonsynonymous SNV	exon19	c.G3017T	p.S1006I	THKHQNGIFSNGSKAEKRGLAANPG	THKHQNGIFSNGIKAEKRGLAANPG	4.0	9.0	unscreened	-	4037_9:18777244-18777244 G>T_THKHQNGIFSNGIKAEKRGLAANPG
1:12820760-12820760 A>T	0.0	4037	LUNG	-	-	-	-	C1orf158	ENST00000288048,p.K154M|ENST00000376210,p.K116M|uc001auh.3,p.K154M|NM_152290,p.K154M	protein_coding, processed_transcript	uc001auh.3	nonsynonymous SNV	exon4	c.A461T	p.K154M	LYEQLKQRQLTPKAGLKQSTYTSSY	LYEQLKQRQLTPMAGLKQSTYTSSY	1.0	4.0	unscreened	-	4037_1:12820760-12820760 A>T_LYEQLKQRQLTPMAGLKQSTYTSSY
5:179751287-179751287 T>G	0.0	4037	LUNG	-	-	-	-	GFPT2	ENST00000253778,p.K232T|NM_005110,p.K232T|ENST00000518906,p.K134T|uc003mlw.1,p.K232T	retained_intron, protein_coding, processed_transcript	uc003mlw.1	nonsynonymous SNV	exon9	c.A695C	p.K232T	PILYRTCTLENVKNICKTRMKRLDS	PILYRTCTLENVTNICKTRMKRLDS	4.0	2.0	unscreened	-	4037_5:179751287-179751287 T>G_PILYRTCTLENVTNICKTRMKRLDS
8:103293652-103293652 T>C	1.0	4037	LUNG	-	-	-	1	UBR5	uc003ykr.2,p.E1931G|uc003yks.2,p.E1931G|NM_001282873,p.E1931G|ENST00000521922,p.E1925G|NM_015902,p.E1931G|ENST00000520539,p.E1931G|ENST00000220959,p.E1931G	retained_intron, protein_coding, processed_transcript	uc003yks.2	nonsynonymous SNV	exon41	c.A5792G	p.E1931G	NYALSLMRSHNDEHSDVLPVLDVCS	NYALSLMRSHNDGHSDVLPVLDVCS	10.0	3.0	unscreened	-	4037_8:103293652-103293652 T>C_NYALSLMRSHNDGHSDVLPVLDVCS
1:152275873-152275873 T>A	0.0	4037	LUNG	-	-	-	-	FLG	ENST00000368799,p.H3830L|NM_002016,p.H3830L|uc001ezu.1,p.H3830L	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.A11489T	p.H3830L	QSGDGSRHSGSRHHEASTQADSSRH	QSGDGSRHSGSRLHEASTQADSSRH	1.0	10.0	-	-	4037_1:152275873-152275873 T>A_QSGDGSRHSGSRLHEASTQADSSRH
19:52519467-52519467 T>C	0.0	4037	LUNG	-	-	-	-	ZNF614	uc010epj.3,p.K165E|ENST00000270649,p.K462E|uc002pyj.3,p.K462E|NM_025040,p.K462E	protein_coding, nonsense_mediated_decay	uc010epj.3	nonsynonymous SNV	exon6	c.A493G	p.K165E	TGEKPYECNECGKAFSQKICLIQHE	TGEKPYECNECGEAFSQKICLIQHE	5.0	2.0	unscreened	-	4037_19:52519467-52519467 T>C_TGEKPYECNECGEAFSQKICLIQHE
11:22399136-22399136 A>C	0.0	4037	LUNG	-	-	-	-	SLC17A6	ENST00000263160,p.Q533H|uc001mqk.3,p.Q533H|NM_020346,p.Q533H	retained_intron, protein_coding	uc001mqk.3	nonsynonymous SNV	exon12	c.A1599C	p.Q533H	EDELDEETGDITQNYINYGTTKSYG	EDELDEETGDITHNYINYGTTKSYG	1.0	8.0	unscreened	-	4037_11:22399136-22399136 A>C_EDELDEETGDITHNYINYGTTKSYG
4:46981074-46981074 A>C	0.0	4037	LUNG	-	-	-	-	GABRA4	uc021xnz.1,p.F64V|NM_000809,p.F83V|uc003gxg.3,p.F83V|ENST00000264318,p.F83V|uc021xoa.1,p.F64V|NM_001204267,p.F64V|NM_001204266,p.F64V	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xoa.1	nonsynonymous SNV	exon3	c.T190G	p.F64V	VTEVKTDIYVTSFGPVSDVEMEYTM	VTEVKTDIYVTSVGPVSDVEMEYTM	1.0	9.0	unscreened	-	4037_4:46981074-46981074 A>C_VTEVKTDIYVTSVGPVSDVEMEYTM
9:32630655-32630655 T>G	0.0	4037	LUNG	-	-	-	-	TAF1L	uc003zrg.1,p.K1641N|ENST00000242310,p.K1641N|NM_153809,p.K1641N	protein_coding	uc003zrg.1	nonsynonymous SNV	exon1	c.A4923C	p.K1641N	HLTQLEKDICTAKEAALEEAELESL	HLTQLEKDICTANEAALEEAELESL	3.0	1.0	unscreened	-	4037_9:32630655-32630655 T>G_HLTQLEKDICTANEAALEEAELESL
19:55445013-55445013 T>C	0.0	4037	LUNG	-	-	-	-	NLRP7	NM_206828,p.N856D|uc010esk.3,p.N856D|ENST00000592784,p.N856D|ENST00000328092,p.N828D|uc002qii.4,p.N856D|NM_139176,p.N828D|NM_001127255,p.N856D|ENST00000586379,p.N856D|uc002qih.4,p.N856D|ENST00000446217,p.N884D|uc002qig.4,p.N828D|ENST00000590030,p.N856D|ENST00000588756,p.N856D|ENST00000340844,p.N856D|uc010esl.3,p.N884D|ENST00000448121,p.N828D	protein_coding, nonsense_mediated_decay	uc010esl.3	nonsynonymous SNV	exon10	c.A2650G	p.N884D	VSKKLTHLCLAKNPIGDTGVKFLCE	VSKKLTHLCLAKDPIGDTGVKFLCE	1.0	10.0	unscreened	-	4037_19:55445013-55445013 T>C_VSKKLTHLCLAKDPIGDTGVKFLCE
11:62189780-62189780 T>G	0.0	4037	LUNG	-	-	-	-	SCGB1A1	NM_003357,p.L48R|ENST00000278282,p.L48R|ENST00000534397,p.L13R|uc001ntj.3,p.L48R	protein_coding	uc001ntj.3	nonsynonymous SNV	exon2	c.T143G	p.L48R	MDTPSSYEAAMELFSPDQDMREAGA	MDTPSSYEAAMERFSPDQDMREAGA	1.0	5.0	unscreened	-	4037_11:62189780-62189780 T>G_MDTPSSYEAAMERFSPDQDMREAGA
12:31106939-31106939 A>C	0.0	4037	LUNG	-	-	-	-	TSPAN11	uc001rjp.3,p.K5T|ENST00000261177,p.K5T|ENST00000546076,p.K5T|ENST00000545802,p.K5T|NM_001080509,p.K5T|uc010sju.2,p.K5T	protein_coding	uc010sju.2	nonsynonymous SNV	exon2	c.A14C	p.K5T	MAHYKTEQDDWLIIYLK	MAHYTTEQDDWLIIYLK	3.0	1.0	unscreened	-	4037_12:31106939-31106939 A>C_MAHYTTEQDDWLIIYLK
7:76922481-76922481 A>C	1.0	4037	LUNG	-	-	-	-	CCDC146	uc003uga.3,p.E876D|ENST00000285871,p.E876D|uc010ldp.3,p.E590D|ENST00000431197,p.E590D|uc003ugc.3,p.E213D|NM_020879,p.E876D	retained_intron, protein_coding, processed_transcript	uc010ldp.3	nonsynonymous SNV	exon10	c.A1770C	p.E590D	EIEKEWLKVLRDEEMHALAIAEKSQ	EIEKEWLKVLRDDEMHALAIAEKSQ	4.0	6.0	unscreened	-	4037_7:76922481-76922481 A>C_EIEKEWLKVLRDDEMHALAIAEKSQ
15:24921814-24921814 T>G	0.0	4037	LUNG	-	-	-	-	NPAP1	NM_018958,p.V267G|uc001ywo.3,p.V267G|ENST00000329468,p.V267G	protein_coding	uc001ywo.3	nonsynonymous SNV	exon1	c.T800G	p.V267G	PDPDATAPPEPAVGCSLLQQKLAAE	PDPDATAPPEPAGGCSLLQQKLAAE	1.0	8.0	unscreened	-	4037_15:24921814-24921814 T>G_PDPDATAPPEPAGGCSLLQQKLAAE
10:135015115-135015115 T>C	0.0	4037	LUNG	-	-	-	-	KNDC1	uc001lmb.1,p.F446L|ENST00000368572,p.F1036L|ENST00000368571,p.F969L|ENST00000304613,p.F1034L|uc001lma.1,p.F969L|uc001llz.1,p.F1034L|NM_152643,p.F1034L	retained_intron, protein_coding, processed_transcript	uc001lmb.1	nonsynonymous SNV	exon7	c.T1336C	p.F446L	SDALSRGNFEVGFRPQRSVKAERAQ	SDALSRGNFEVGLRPQRSVKAERAQ	3.0	5.0	unscreened	-	4037_10:135015115-135015115 T>C_SDALSRGNFEVGLRPQRSVKAERAQ
19:50243349-50243349 T>C	0.0	4037	LUNG	-	-	-	-	TSKS	ENST00000358830,p.K330R|NM_021733,p.K530R|ENST00000246801,p.K530R|uc002ppm.3,p.K530R	retained_intron, protein_coding	uc002ppm.3	nonsynonymous SNV	exon10	c.A1589G	p.K530R	TLRLAQDEALRAKNLLLTDKMKPEE	TLRLAQDEALRARNLLLTDKMKPEE	1.0	3.0	unscreened	-	4037_19:50243349-50243349 T>C_TLRLAQDEALRARNLLLTDKMKPEE
2:237246883-237246883 A>C	0.0	4037	LUNG	-	-	-	-	IQCA1	uc002vvz.2,p.I700S|NM_001270584,p.I659S|ENST00000309507,p.I697S|NM_001270585,p.I708S|ENST00000431676,p.I659S|ENST00000409907,p.I700S|uc010zni.2,p.I659S|uc002vwb.3,p.I708S|NM_024726,p.I700S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zni.2	nonsynonymous SNV	exon16	c.T1976G	p.I659S	ELQSFCKVYQKIILVPRPDYASRYV	ELQSFCKVYQKISLVPRPDYASRYV	1.0	9.0	unscreened	-	4037_2:237246883-237246883 A>C_ELQSFCKVYQKISLVPRPDYASRYV
X:21666984-21666984 C>G	0.0	4037	LUNG	-	-	-	-	CNKSR2	uc011mjo.2,p.Q880E|NM_001168647,p.Q880E|ENST00000379510,p.Q910E|NM_014927,p.Q910E|uc004czx.2,p.Q910E|ENST00000425654,p.Q880E	protein_coding, processed_transcript	uc011mjo.2	nonsynonymous SNV	exon20	c.C2638G	p.Q880E	SESREEKLGDSLQDLYRALEQASLS	SESREEKLGDSLEDLYRALEQASLS	1.0	10.0	unscreened	-	4037_X:21666984-21666984 C>G_SESREEKLGDSLEDLYRALEQASLS
1:145594132-145594132 G>T	1.0	4037	LUNG	-	-	-	-	POLR3C	uc001eoh.3,p.T477N|ENST00000334163,p.T477N|NM_006468,p.T477N|uc001eog.3,p.T490N	protein_coding, processed_transcript	uc001eoh.3	nonsynonymous SNV	exon14	c.C1430A	p.T477N	QRVEAIIASMQATGAEEAQLQEIEE	QRVEAIIASMQANGAEEAQLQEIEE	8.0	9.0	unscreened	-	4037_1:145594132-145594132 G>T_QRVEAIIASMQANGAEEAQLQEIEE
8:59490696-59490696 G>C	1.0	4037	LUNG	-	-	-	-	SDCBP	NM_005625,p.W169C|ENST00000422546,p.W168C|uc003xto.3,p.W168C|NM_001007068,p.W163C|uc003xts.4,p.W189C|ENST00000424270,p.W163C|ENST00000260130,p.W169C|ENST00000447267,p.W115C|ENST00000447182,p.W168C|uc003xtq.3,p.W169C|uc003xtr.3,p.W168C|uc003xtp.3,p.W163C|ENST00000520168,p.W110C|uc011led.2,p.W110C|ENST00000523483,p.W189C|NM_001007067,p.W169C|uc003xtn.3,p.W169C|NM_001007069,p.W168C|ENST00000413219,p.W169C|NM_001007070,p.W168C	retained_intron, protein_coding, processed_transcript	uc011led.2	nonsynonymous SNV	exon5	c.G330C	p.W110C	QVLQINGENCAGWSSDKAHKVLKQA	QVLQINGENCAGCSSDKAHKVLKQA	10.0	6.0	unscreened	-	4037_8:59490696-59490696 G>C_QVLQINGENCAGCSSDKAHKVLKQA
12:123003466-123003466 T>G	1.0	4037	LUNG	-	-	-	-	RSRC2	uc001ucr.3,p.E106D|NM_023012,p.E106D|uc021rfm.1,p.E106D|uc001ucp.3,p.E47D|ENST00000344591,p.E47D|ENST00000354654,p.E58D|uc001uct.3,p.E58D|ENST00000331738,p.E106D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021rfm.1	nonsynonymous SNV	exon4	c.A318C	p.E106D	SSDKGRERLNSSENGEDRHKRKERK	SSDKGRERLNSSDNGEDRHKRKERK	9.0	10.0	-	-	4037_12:123003466-123003466 T>G_SSDKGRERLNSSDNGEDRHKRKERK
1:33960517-33960517 A>C	0.0	4037	LUNG	-	-	-	-	ZSCAN20	NM_145238,p.K858T|uc009vui.3,p.K857T|ENST00000361328,p.K858T|uc001bxj.4,p.K858T	protein_coding, processed_transcript	uc009vui.3	nonsynonymous SNV	exon8	c.A2570C	p.K857T	EETAPEQPQSISKDLNSPGPHSTNS	EETAPEQPQSISTDLNSPGPHSTNS	3.0	2.0	unscreened	-	4037_1:33960517-33960517 A>C_EETAPEQPQSISTDLNSPGPHSTNS
1:181705567-181705567 A>C	0.0	4037	LUNG	-	-	-	-	CACNA1E	ENST00000360108,p.N1121T|uc001gow.3,p.N1140T|uc009wxs.3,p.N1121T|NM_000721,p.N1140T|ENST00000358338,p.N1072T|uc009wxt.3,p.N1140T|ENST00000357570,p.N1091T|ENST00000367573,p.N1140T|ENST00000526775,p.N1121T|NM_001205293,p.N1140T|ENST00000367567,p.N747T|NM_001205294,p.N1121T|uc001gox.1,p.N366T|ENST00000367570,p.N1140T	retained_intron, protein_coding	uc009wxt.3	nonsynonymous SNV	exon22	c.A3419C	p.N1140T	VPHSSMFIFSTTNPIRRACHYIVNL	VPHSSMFIFSTTTPIRRACHYIVNL	1.0	4.0	unscreened	-	4037_1:181705567-181705567 A>C_VPHSSMFIFSTTTPIRRACHYIVNL
11:51411825-51411825 A>G	0.0	4037	LUNG	-	-	-	-	OR4A5	uc001nhi.2,p.F191L|ENST00000319760,p.F191L|NM_001005272,p.F191L	protein_coding	uc001nhi.2	nonsynonymous SNV	exon1	c.T571C	p.F191L	HPLLELACTDTYFIGLTVVVNSGAI	HPLLELACTDTYLIGLTVVVNSGAI	1.0	5.0	unscreened	-	4037_11:51411825-51411825 A>G_HPLLELACTDTYLIGLTVVVNSGAI
7:1486452-1486452 C>A	1.0	4037	LUNG	-	-	-	-	MICALL2	ENST00000297508,p.A180S|uc003skj.4,p.A180S|ENST00000413446,p.A138S|NM_182924,p.A180S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003skj.4	nonsynonymous SNV	exon5	c.G538T	p.A180S	AGGPPPKTDQALAGSLVSSTCGVCG	AGGPPPKTDQALSGSLVSSTCGVCG	8.0	9.0	unscreened	-	4037_7:1486452-1486452 C>A_AGGPPPKTDQALSGSLVSSTCGVCG
14:20711429-20711429 T>G	0.0	4037	LUNG	-	-	-	-	OR11H4	NM_001004479,p.L160R|ENST00000315409,p.L160R|uc010tld.2,p.L160R	protein_coding	uc010tld.2	nonsynonymous SNV	exon1	c.T479G	p.L160R	VRFCGKLVSFCWLIGFLGYPIPIFY	VRFCGKLVSFCWRIGFLGYPIPIFY	1.0	4.0	unscreened	-	4037_14:20711429-20711429 T>G_VRFCGKLVSFCWRIGFLGYPIPIFY
13:32339203-32339203 T>C	0.0	4037	LUNG	-	-	-	-	RXFP2	ENST00000298386,p.C117R|uc010aba.3,p.C117R|uc001utt.3,p.C117R|NM_130806,p.C117R|NM_001166058,p.C117R|ENST00000380314,p.C117R	protein_coding	uc010aba.3	nonsynonymous SNV	exon4	c.T349C	p.C117R	ECFLKQYPQCCDCKETELECVNGDL	ECFLKQYPQCCDRKETELECVNGDL	1.0	4.0	unscreened	-	4037_13:32339203-32339203 T>C_ECFLKQYPQCCDRKETELECVNGDL
1:215822048-215822048 A>C	0.0	4037	LUNG	0.0005	-	-	-	USH2A	ENST00000307340,p.S4802A|uc001hku.1,p.S4802A|ENST00000366943,p.S4802A|NM_206933,p.S4802A	retained_intron, protein_coding	uc001hku.1	nonsynonymous SNV	exon66	c.T14404G	p.S4802A	QTLHGLQAFTNYSIGVEACTCFNCC	QTLHGLQAFTNYAIGVEACTCFNCC	1.0	10.0	-	-	4037_1:215822048-215822048 A>C_QTLHGLQAFTNYAIGVEACTCFNCC
3:58728287-58728287 A>C	1.0	4037	LUNG	-	-	-	-	C3orf67	ENST00000482387,p.L657R|ENST00000295966,p.L531R|uc003dkt.1,p.L531R|uc003dks.1,p.L472R|NM_198463,p.L531R	protein_coding, processed_transcript, nonsense_mediated_decay	uc003dkt.1	nonsynonymous SNV	exon16	c.T1592G	p.L531R	SCESLSVQGEEDLSVEEDEEVLTLL	SCESLSVQGEEDRSVEEDEEVLTLL	3.0	6.0	unscreened	-	4037_3:58728287-58728287 A>C_SCESLSVQGEEDRSVEEDEEVLTLL
15:78917503-78917503 T>C	0.0	4037	LUNG	-	-	-	-	CHRNB4	ENST00000261751,p.E490G|uc002bed.1,p.E490G|NM_000750,p.E490G	protein_coding, nonsense_mediated_decay	uc002bed.1	nonsynonymous SNV	exon6	c.A1469G	p.E490G	FLPPLFQTHAASEGPYAAQRD	FLPPLFQTHAASGGPYAAQRD	1.0	10.0	unscreened	-	4037_15:78917503-78917503 T>C_FLPPLFQTHAASGGPYAAQRD
1:228602463-228602463 T>A	0.0	4037	LUNG	-	-	-	-	TRIM17	ENST00000479800,p.E77V|NM_016102,p.E104V|uc009xfb.2,p.E104V|ENST00000355586,p.E104V|NM_001024940,p.E104V|NM_001134855,p.E104V|ENST00000366698,p.E104V|uc001hsu.3,p.E104V|ENST00000456946,p.E104V|uc001hsv.3,p.E104V|ENST00000295033,p.E104V|ENST00000366697,p.E104V	protein_coding	uc009xfb.2	nonsynonymous SNV	exon2	c.A311T	p.E104V	GLQKQDLCQEHHEPLKLFCQKDQSP	GLQKQDLCQEHHVPLKLFCQKDQSP	1.0	1.0	unscreened	-	4037_1:228602463-228602463 T>A_GLQKQDLCQEHHVPLKLFCQKDQSP
18:70526091-70526091 C>G	0.0	4037	LUNG	-	-	-	-	NETO1	uc002lkw.3,p.G147R|NM_138966,p.G147R|ENST00000299430,p.G146R|ENST00000583169,p.G147R|NM_001201465,p.G147R|uc002lky.2,p.G147R|ENST00000327305,p.G147R	protein_coding, processed_transcript	uc002lky.2	nonsynonymous SNV	exon4	c.G439C	p.G147R	IKFFADGELESMGFSARYNFTPDPD	IKFFADGELESMRFSARYNFTPDPD	1.0	7.0	unscreened	-	4037_18:70526091-70526091 C>G_IKFFADGELESMRFSARYNFTPDPD
20:16486777-16486777 A>C	1.0	4037	LUNG	-	-	-	-	KIF16B	NM_024704,p.L253R|ENST00000355755,p.L253R|uc010gch.2,p.L253R|ENST00000354981,p.L253R|uc010gcj.2,p.L253R|NM_001199865,p.L253R|uc002wpg.2,p.L253R|uc010gci.2,p.L253R|ENST00000408042,p.L253R|NM_001199866,p.L253R	protein_coding	uc010gcj.2	nonsynonymous SNV	exon8	c.T758G	p.L253R	PCETVSKIHLVDLAGSERADATGAT	PCETVSKIHLVDRAGSERADATGAT	6.0	7.0	unscreened	-	4037_20:16486777-16486777 A>C_PCETVSKIHLVDRAGSERADATGAT
1:110612978-110612978 A>G	0.0	4037	LUNG	-	-	-	-	ALX3	NM_006492,p.F86S|uc001dzb.3,p.F86S|ENST00000369792,p.F86S	protein_coding	uc001dzb.3	nonsynonymous SNV	exon1	c.T257C	p.F86S	DLGPGPALNGGHFYEGPAEAEEKTS	DLGPGPALNGGHSYEGPAEAEEKTS	1.0	9.0	unscreened	-	4037_1:110612978-110612978 A>G_DLGPGPALNGGHSYEGPAEAEEKTS
12:129190365-129190365 A>C	0.0	4037	LUNG	-	-	-	-	TMEM132C	ENST00000537538,p.K336T|ENST00000315208,p.K567T|uc021rgn.1,p.K951T|NM_001136103,p.K951T|ENST00000435159,p.K951T	protein_coding	uc021rgn.1	nonsynonymous SNV	exon9	c.A2852C	p.K951T	LVFLINCATFALKYRHKQVPLEGQA	LVFLINCATFALTYRHKQVPLEGQA	1.0	4.0	unscreened	-	4037_12:129190365-129190365 A>C_LVFLINCATFALTYRHKQVPLEGQA
20:33969814-33969814 T>G	0.0	4037	LUNG	-	-	-	-	UQCC1	ENST00000453855,p.K79N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000453855	nonsynonymous SNV	exon4	c.A237C	p.K79N	RKYHTTRKLSTTKDSPQPVEEKRSW	RKYHTTRKLSTTNDSPQPVEEKRSW	9.0	3.0	unscreened	-	4037_20:33969814-33969814 T>G_RKYHTTRKLSTTNDSPQPVEEKRSW
8:38250146-38250146 A>C	0.0	4037	LUNG	-	-	-	-	LETM2	ENST00000526356,p.K45T|NM_001286819,p.K45T|ENST00000527334,p.K45T|ENST00000523268,p.K45T|ENST00000379957,p.K45T|uc003xlk.3,p.K45T|ENST00000524874,p.K45T|ENST00000519476,p.K45T|NM_001286821,p.K45T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xlk.3	nonsynonymous SNV	exon3	c.A134C	p.K45T	CAFLHLPDSHLNKTCMKNYESKKYS	CAFLHLPDSHLNTTCMKNYESKKYS	4.0	3.0	unscreened	-	4037_8:38250146-38250146 A>C_CAFLHLPDSHLNTTCMKNYESKKYS
1:93712494-93712494 A>G	1.0	4037	LUNG	-	-	-	-	CCDC18	NM_206886,p.K1061E|uc021opx.1,p.K1061E|ENST00000557479,p.K1179E|ENST00000343253,p.K1060E|ENST00000401026,p.K1061E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021opx.1	nonsynonymous SNV	exon23	c.A3181G	p.K1061E	LEGTLEKSELELKECNKQIESLNDK	LEGTLEKSELELEECNKQIESLNDK	5.0	10.0	-	-	4037_1:93712494-93712494 A>G_LEGTLEKSELELEECNKQIESLNDK
1:157804279-157804279 T>G	0.0	4037	LUNG	-	-	-	-	CD5L	uc001frk.4,p.E212D|NM_005894,p.E212D|ENST00000368174,p.E212D	protein_coding, processed_transcript	uc001frk.4	nonsynonymous SNV	exon4	c.A636C	p.E212D	PIWLSQMSCSGREATLQDCPSGPWG	PIWLSQMSCSGRDATLQDCPSGPWG	1.0	8.0	unscreened	-	4037_1:157804279-157804279 T>G_PIWLSQMSCSGRDATLQDCPSGPWG
15:42174560-42174560 T>A	0.0	4037	LUNG	-	-	-	-	SPTBN5	NM_016642,p.E718D|uc001zos.4,p.E718D|ENST00000320955,p.E718D	retained_intron, protein_coding	uc001zos.4	nonsynonymous SNV	exon11	c.A2154T	p.E718D	SARRPPTQPDPGERAEAVQGGWQLL	SARRPPTQPDPGDRAEAVQGGWQLL	3.0	10.0	-	-	4037_15:42174560-42174560 T>A_SARRPPTQPDPGDRAEAVQGGWQLL
1:200378460-200378460 A>C	0.0	4037	LUNG	-	-	-	-	ZNF281	NM_001281293,p.V125G|NM_001281294,p.V89G|ENST00000294740,p.V125G|uc001gvf.1,p.V125G|ENST00000367352,p.V89G|uc001gvg.1,p.V89G|NM_012482,p.V125G|uc001gve.3,p.V125G|ENST00000367353,p.V125G|uc021phb.1,p.V125G	protein_coding	uc021phb.1	nonsynonymous SNV	exon1	c.T374G	p.V125G	SQRTSWGFLQSLVSIKQEKPADPEE	SQRTSWGFLQSLGSIKQEKPADPEE	6.0	2.0	unscreened	-	4037_1:200378460-200378460 A>C_SQRTSWGFLQSLGSIKQEKPADPEE
14:92537353-92537353 ->GCTGCTGCTGCTGCTGCT	0.0	4037	LUNG	-	-	-	-	ATXN3	uc021sai.1,p.G190delinsSSSSSSG	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021sai.1	nonframeshift insertion	exon8	c.567_568insAGCAGCAGCAGCAGCAGC	p.G190delinsSSSSSSG	KSSNSSSSSSSRGTYQDRVHIHVKG	KSSNSSSSSSSRSSSSSSGTYQDRV	7.0	7.0	unscreened	-	4037_14:92537353-92537353 ->GCTGCTGCTGCTGCTGCT_KSSNSSSSSSSRSSSSSSGTYQDRV
7:88963318-88963318 G>C	0.0	4037	LUNG	-	-	ID=COSM1755401;OCCURENCE=2(urinary_tract)	-	ZNF804B	ENST00000333190,p.R341T|uc011khi.2,p.R341T|NM_181646,p.R341T	protein_coding	uc011khi.2	nonsynonymous SNV	exon4	c.G1022C	p.R341T	IHLSDVDFTPTSREKETRNTLKNTL	IHLSDVDFTPTSTEKETRNTLKNTL	1.0	10.0	unscreened	-	4037_7:88963318-88963318 G>C_IHLSDVDFTPTSTEKETRNTLKNTL
4:187201668-187201668 A>C	0.0	4037	LUNG	-	-	-	-	F11	uc003iza.1,p.T357P|NM_000128,p.T357P|ENST00000403665,p.T357P|ENST00000264692,p.T305P	retained_intron, protein_coding	uc003iza.1	nonsynonymous SNV	exon10	c.A1069C	p.T357P	KCYLKLSSNGSPTKILHGRGGISGY	KCYLKLSSNGSPPKILHGRGGISGY	1.0	6.0	unscreened	-	4037_4:187201668-187201668 A>C_KCYLKLSSNGSPPKILHGRGGISGY
3:179095198-179095198 T>A	0.0	4037	LUNG	-	-	-	-	MFN1	uc003fjt.3,p.F459I|NM_033540,p.F431I|uc010hxc.3,p.F284I|ENST00000474903,p.F294I|ENST00000280653,p.F431I|ENST00000263969,p.F431I|ENST00000471841,p.F431I|uc003fjs.3,p.F431I	retained_intron, protein_coding, nonsense_mediated_decay	uc010hxc.3	nonsynonymous SNV	exon8	c.T850A	p.F284I	RLSVLVDEFCSEFHPNPDVLKIYKS	RLSVLVDEFCSEIHPNPDVLKIYKS	7.0	5.0	unscreened	-	4037_3:179095198-179095198 T>A_RLSVLVDEFCSEIHPNPDVLKIYKS
1:34677962-34677962 T>A	0.0	4037	LUNG	-	-	-	-	C1orf94	ENST00000373374,p.L369Q|NM_001134734,p.L559Q|ENST00000488417,p.L559Q|NM_032884,p.L369Q|uc001bxs.4,p.L369Q|uc001bxt.3,p.L559Q	protein_coding	uc001bxt.3	nonsynonymous SNV	exon6	c.T1676A	p.L559Q	PPKMSANPRDPPLMAGDGPQYLFPQ	PPKMSANPRDPPQMAGDGPQYLFPQ	1.0	3.0	unscreened	-	4037_1:34677962-34677962 T>A_PPKMSANPRDPPQMAGDGPQYLFPQ
11:76796044-76796044 T>C	0.0	4037	LUNG	-	-	-	-	CAPN5	NM_004055,p.S38P|ENST00000527066,p.S38P|uc001oxy.3,p.S78P|ENST00000278559,p.S38P|ENST00000456580,p.S38P|ENST00000531028,p.S38P|uc009yuq.3,p.S74P|uc009yup.3,p.S38P|uc001oxx.3,p.S38P|ENST00000529629,p.S38P	retained_intron, protein_coding	uc009yuq.3	nonsynonymous SNV	exon3	c.T220C	p.S74P	LFEDPLFPATDDSLYYKGTPGPAVR	LFEDPLFPATDDPLYYKGTPGPAVR	5.0	4.0	unscreened	-	4037_11:76796044-76796044 T>C_LFEDPLFPATDDPLYYKGTPGPAVR
9:20346571-20346571 A>G	0.0	4037	LUNG	-	-	-	1	MLLT3	NM_001286691,p.I523T|ENST00000380321,p.I120T|NM_004529,p.I526T|ENST00000429426,p.I523T|ENST00000380338,p.I526T|uc011lnf.1,p.I523T|uc003zoe.2,p.I526T|uc011lne.1,p.I494T	protein_coding, processed_transcript	uc011lnf.1	nonsynonymous SNV	exon11	c.T1568C	p.I523T	LMTLRERHILQQIVNLIEETGHFHI	LMTLRERHILQQTVNLIEETGHFHI	5.0	3.0	unscreened	-	4037_9:20346571-20346571 A>G_LMTLRERHILQQTVNLIEETGHFHI
7:91712588-91712588 G>T	1.0	4037	LUNG	-	-	-	2	AKAP9	uc003ulk.3,p.E30D|uc003uli.3,p.E2378D|ENST00000359028,p.E2767D|ENST00000356239,p.E2755D|ENST00000358100,p.E2767D|NM_147185,p.E2747D|uc003ulf.3,p.E2747D|uc003ulj.3,p.E525D|NM_005751,p.E2755D|uc003ulg.3,p.E2755D|ENST00000394534,p.E601D	retained_intron, protein_coding, processed_transcript	uc003ulk.3	nonsynonymous SNV	exon1	c.G90T	p.E30D	AKEKLSILEKEDETEVQESKKACMF	AKEKLSILEKEDDTEVQESKKACMF	6.0	10.0	unscreened	-	4037_7:91712588-91712588 G>T_AKEKLSILEKEDDTEVQESKKACMF
1:160786517-160786517 A>C	0.0	4037	LUNG	-	-	-	-	LY9	ENST00000368040,p.E54D|NM_002348,p.E402D|uc001fwz.3,p.E54D|ENST00000263285,p.E402D|ENST00000368035,p.E54D|NM_001261456,p.E402D|uc001fwu.4,p.E402D|ENST00000368037,p.E371D|uc001fwv.4,p.E402D	retained_intron, protein_coding, processed_transcript	uc001fwz.3	nonsynonymous SNV	exon2	c.A162C	p.E54D	NTVMYTWTPLQKEAVVSQGESHLNV	NTVMYTWTPLQKDAVVSQGESHLNV	4.0	3.0	unscreened	-	4037_1:160786517-160786517 A>C_NTVMYTWTPLQKDAVVSQGESHLNV
4:47405442-47405442 A>G	0.0	4037	LUNG	-	-	-	-	GABRB1	NM_000812,p.M218V|uc011bze.2,p.M148V|ENST00000295454,p.M218V|uc003gxh.3,p.M218V|ENST00000538619,p.M148V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bze.2	nonsynonymous SNV	exon5	c.A442G	p.M148V	IELPQFSIVDYKMVSKKVEFTTGAY	IELPQFSIVDYKVVSKKVEFTTGAY	1.0	5.0	unscreened	-	4037_4:47405442-47405442 A>G_IELPQFSIVDYKVVSKKVEFTTGAY
17:7385703-7385703 C>T	0.0	4037	LUNG	-	rs71360884	-	-	SLC35G6	ENST00000412468,p.R134C|uc010cmj.1,p.R134C|NM_001102614,p.R134C	protein_coding	uc010cmj.1	nonsynonymous SNV	exon2	c.C400T	p.R134C	VQVVPAGNAATVRKGSSTVCSAVLT	VQVVPAGNAATVCKGSSTVCSAVLT	1.0	2.0	unscreened	-	4037_17:7385703-7385703 C>T_VQVVPAGNAATVCKGSSTVCSAVLT
20:42788732-42788732 C>T	0.0	4037	LUNG	-	-	ID=COSM1211284;OCCURENCE=1(large_intestine)	-	JPH2	uc002xli.1,p.R232H|ENST00000372980,p.R232H|NM_020433,p.R232H	protein_coding	uc002xli.1	nonsynonymous SNV	exon2	c.G695A	p.R232H	LFQRGALLGKLRRAESRTSVGSQRS	LFQRGALLGKLRHAESRTSVGSQRS	6.0	2.0	unscreened	-	4037_20:42788732-42788732 C>T_LFQRGALLGKLRHAESRTSVGSQRS
17:34068305-34068305 A>G	0.0	4037	LUNG	-	-	-	-	RASL10B	NM_033315,p.N198S|ENST00000268864,p.N198S|uc002hju.3,p.N198S	protein_coding, processed_transcript	uc002hju.3	nonsynonymous SNV	exon4	c.A593G	p.N198S	HAALRFQGALRRNRCAIM	HAALRFQGALRRSRCAIM	4.0	6.0	unscreened	-	4037_17:34068305-34068305 A>G_HAALRFQGALRRSRCAIM
8:65494015-65494017 GCG>-	0.0	4037	LUNG	-	-	-	-	BHLHE22	ENST00000321870,p.223_224del|uc003xvi.3,p.223_224del|NM_152414,p.223_224del	protein_coding	uc003xvi.3	nonframeshift deletion	exon1	c.668_670del	p.223_224del	GSSGGGGGSGSGSGGSSSSSSSSSK	GSSGGGGGSGSGSGSSSSSSSSSKK	2.0	10.0	unscreened	-	4037_8:65494015-65494017 GCG>-_GSSGGGGGSGSGSGSSSSSSSSSKK
20:33969814-33969814 T>G	0.0	4037	LUNG	-	-	-	-	UQCC1	NM_199487,p.K80N|ENST00000397554,p.K80N|ENST00000374384,p.K80N|ENST00000349714,p.K80N|uc002xcd.3,p.K80N|ENST00000542501,p.K80N|ENST00000438533,p.K94N|NM_018244,p.K80N|uc021wcl.1,p.K34N|ENST00000359226,p.K80N|ENST00000443429,p.K80N|ENST00000374385,p.K80N|uc010gfb.3,p.K80N|uc002xci.1,p.K34N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wcl.1	nonsynonymous SNV	exon3	c.A102C	p.K34N	RKYHTTRKLSTTKDSPQPVEEKVGA	RKYHTTRKLSTTNDSPQPVEEKVGA	9.0	3.0	unscreened	-	4037_20:33969814-33969814 T>G_RKYHTTRKLSTTNDSPQPVEEKVGA
19:51981895-51981895 T>G	0.0	4037	LUNG	-	-	-	-	CEACAM18	uc002pwv.1,p.L61R|ENST00000451626,p.L61R	protein_coding	uc002pwv.1	nonsynonymous SNV	exon2	c.T182G	p.L61R	LEGPLLLEDPRQLMDLSRPRWSLWR	LEGPLLLEDPRQRMDLSRPRWSLWR	1.0	5.0	unscreened	-	4037_19:51981895-51981895 T>G_LEGPLLLEDPRQRMDLSRPRWSLWR
11:3249152-3249152 T>C	0.0	4037	LUNG	-	-	-	-	MRGPRE	uc001lxq.5,p.E293G|uc021qcj.1,p.E292G|ENST00000389832,p.E293G|ENST00000436689,p.E292G|NM_001039165,p.E293G	protein_coding	uc021qcj.1	nonsynonymous SNV	exon1	c.A875G	p.E292G	PLRLVLQRALGDEAELGAVRETSRR	PLRLVLQRALGDGAELGAVRETSRR	1.0	1.0	unscreened	-	4037_11:3249152-3249152 T>C_PLRLVLQRALGDGAELGAVRETSRR
6:33141137-33141137 T>A	0.0	4037	LUNG	-	-	-	-	COL11A2	ENST00000374714,p.Q882H|NM_080681,p.Q822H|NM_080680,p.Q908H|ENST00000374713,p.Q861H|ENST00000357486,p.Q887H|ENST00000341947,p.Q908H|uc003ocz.1,p.Q801H|ENST00000395197,p.Q848H|uc003ocx.1,p.Q908H|ENST00000374712,p.Q827H|uc003ocy.1,p.Q822H|ENST00000374708,p.Q822H|NM_080679,p.Q801H|ENST00000361917,p.Q801H	protein_coding, processed_transcript	uc003ocz.1	nonsynonymous SNV	exon34	c.A2403T	p.Q801H	PPGKDGLPGHPGQRGEVGFQGKTGP	PPGKDGLPGHPGHRGEVGFQGKTGP	3.0	7.0	unscreened	-	4037_6:33141137-33141137 T>A_PPGKDGLPGHPGHRGEVGFQGKTGP
X:47272495-47272495 G>C	0.0	4037	LUNG	-	-	-	-	ZNF157	NM_003446,p.M341I|ENST00000377073,p.M341I|uc004dhr.1,p.M341I	protein_coding	uc004dhr.1	nonsynonymous SNV	exon4	c.G1023C	p.M341I	PYECGECGKFFRMKMTLNNHQRTHT	PYECGECGKFFRIKMTLNNHQRTHT	1.0	3.0	unscreened	-	4037_X:47272495-47272495 G>C_PYECGECGKFFRIKMTLNNHQRTHT
X:40570475-40570475 A>G	0.0	4037	LUNG	-	-	-	-	MED14	uc010nhe.1,p.L207P|ENST00000324817,p.L323P|uc004dex.4,p.L323P|NM_004229,p.L323P	protein_coding, processed_transcript	uc010nhe.1	nonsynonymous SNV	exon8	c.T620C	p.L207P	QTLMLIRERWGDLVQVERYHAGKCL	QTLMLIRERWGDPVQVERYHAGKCL	7.0	8.0	unscreened	-	4037_X:40570475-40570475 A>G_QTLMLIRERWGDPVQVERYHAGKCL
18:70526091-70526091 C>G	0.0	4037	LUNG	-	-	-	-	NETO1	uc002lkz.3,p.G146R|ENST00000397929,p.G146R|NM_138999,p.G146R	protein_coding, processed_transcript	uc002lkz.3	nonsynonymous SNV	exon4	c.G436C	p.G146R	IKFFADGELESMGFSARYNFTPE	IKFFADGELESMRFSARYNFTPE	1.0	7.0	unscreened	-	4037_18:70526091-70526091 C>G_IKFFADGELESMRFSARYNFTPE
19:31769542-31769542 A>C	0.0	4037	LUNG	-	-	-	-	TSHZ3	ENST00000240587,p.L386R|uc002nsy.4,p.L386R|NM_020856,p.L386R	protein_coding, processed_transcript	uc002nsy.4	nonsynonymous SNV	exon2	c.T1157G	p.L386R	YAWHFEARKSQILKCMECGSSHDTL	YAWHFEARKSQIRKCMECGSSHDTL	5.0	1.0	unscreened	-	4037_19:31769542-31769542 A>C_YAWHFEARKSQIRKCMECGSSHDTL
7:127255247-127255247 T>C	0.0	4037	LUNG	-	-	-	-	PAX4	uc003vmh.3,p.K6R|ENST00000463946,p.K6R|ENST00000483494,p.K6R|uc003vmf.2,p.K6R	retained_intron, protein_coding	uc003vmh.3	nonsynonymous SNV	exon1	c.A17G	p.K6R	MAWSSKSWLCLIASSCPR	MAWSSRSWLCLIASSCPR	1.0	3.0	unscreened	-	4037_7:127255247-127255247 T>C_MAWSSRSWLCLIASSCPR
11:124767074-124767074 T>C	0.0	4037	LUNG	-	-	-	-	ROBO4	NM_019055,p.S52G|ENST00000306534,p.S52G|uc001qbg.3,p.S52G	retained_intron, protein_coding, processed_transcript	uc001qbg.3	nonsynonymous SNV	exon2	c.A154G	p.S52G	DQLFQGPGPARMSCQASGQPPPTIR	DQLFQGPGPARMGCQASGQPPPTIR	5.0	9.0	unscreened	-	4037_11:124767074-124767074 T>C_DQLFQGPGPARMGCQASGQPPPTIR
12:13716529-13716529 A>C	0.0	4037	LUNG	-	-	-	-	GRIN2B	ENST00000279593,p.C1215G|NM_000834,p.C1215G|uc001rbt.2,p.C1215G	protein_coding	uc001rbt.2	nonsynonymous SNV	exon13	c.T3643G	p.C1215G	NVEWEDRSGGNFCRSCPSKLHNYST	NVEWEDRSGGNFGRSCPSKLHNYST	1.0	10.0	unscreened	-	4037_12:13716529-13716529 A>C_NVEWEDRSGGNFGRSCPSKLHNYST
X:132159835-132159835 T>G	0.0	4037	LUNG	-	-	-	-	USP26	uc011mvf.2,p.K805T|ENST00000370832,p.K805T|ENST00000511190,p.K805T|NM_031907,p.K805T|ENST00000406273,p.K805T|uc010nrm.1,p.K805T	protein_coding, processed_transcript	uc011mvf.2	nonsynonymous SNV	exon1	c.A2414C	p.K805T	SNKNPRNKDILDKIKSKAKETKRND	SNKNPRNKDILDTIKSKAKETKRND	1.0	9.0	unscreened	-	4037_X:132159835-132159835 T>G_SNKNPRNKDILDTIKSKAKETKRND
20:33969814-33969814 T>G	0.0	4037	LUNG	-	-	-	-	UQCC1	ENST00000424405,p.K48N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000424405	nonsynonymous SNV	exon3	c.A144C	p.K48N	RALSRTSQLSTTKDSPQPVEEKVGA	RALSRTSQLSTTNDSPQPVEEKVGA	9.0	3.0	unscreened	-	4037_20:33969814-33969814 T>G_RALSRTSQLSTTNDSPQPVEEKVGA
12:7528173-7528173 A>G	0.0	4037	LUNG	-	-	-	-	CD163L1	ENST00000416109,p.L912P|ENST00000396630,p.L902P|NM_001297650,p.L912P|NM_174941,p.L902P|uc001qsy.3,p.L902P|ENST00000313599,p.L902P|uc010sge.2,p.L912P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sge.2	nonsynonymous SNV	exon11	c.T2735C	p.L912P	VGVVCSRYTDVRLVNGKSQCDGQVE	VGVVCSRYTDVRPVNGKSQCDGQVE	4.0	4.0	unscreened	-	4037_12:7528173-7528173 A>G_VGVVCSRYTDVRPVNGKSQCDGQVE
19:48378012-48378012 T>G	0.0	4037	LUNG	-	-	-	-	SULT2A1	uc002phr.2,p.K216T|NM_003167,p.K216T|ENST00000222002,p.K216T	protein_coding	uc002phr.2	nonsynonymous SNV	exon5	c.A647C	p.K216T	KTLEPEELNLILKNSSFQSMKENKM	KTLEPEELNLILTNSSFQSMKENKM	1.0	3.0	unscreened	-	4037_19:48378012-48378012 T>G_KTLEPEELNLILTNSSFQSMKENKM
3:49156509-49156509 T>C	1.0	4037	LUNG	-	-	-	-	USP19	uc011bci.2,p.K24E|NM_001199161,p.K24E|ENST00000434032,p.K24E|ENST00000306026,p.K24E|NM_001199160,p.K24E|ENST00000417901,p.K24E|ENST00000398898,p.K24E|ENST00000398888,p.K24E|uc003cwb.3,p.K24E|uc003cvz.4,p.K24E|NM_006677,p.K24E|uc011bcg.2,p.K24E|uc011bch.2,p.K24E|NM_001199162,p.K24E|uc003cwd.2,p.K24E|ENST00000453664,p.K24E|ENST00000398892,p.K24E	protein_coding, processed_transcript	uc011bci.2	nonsynonymous SNV	exon2	c.A70G	p.K24E	RGPPGLEDTTSKKKQKDRANQESKD	RGPPGLEDTTSKEKQKDRANQESKD	6.0	9.0	unscreened	-	4037_3:49156509-49156509 T>C_RGPPGLEDTTSKEKQKDRANQESKD
5:38510623-38510623 T>G	0.0	4037	LUNG	-	-	-	1	LIFR	NM_001127671,p.T312P|ENST00000453190,p.T312P|NM_002310,p.T312P|uc003jli.2,p.T312P|uc010ive.1,p.T312P|ENST00000263409,p.T312P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ive.1	nonsynonymous SNV	exon7	c.A934C	p.T312P	KIRNISVSASSGTNVVFTTEDNIFG	KIRNISVSASSGPNVVFTTEDNIFG	3.0	3.0	unscreened	-	4037_5:38510623-38510623 T>G_KIRNISVSASSGPNVVFTTEDNIFG
12:126004045-126004045 C>A	0.0	4037	LUNG	-	-	-	-	TMEM132B	NM_052907,p.D384E|uc021rgl.1,p.D274E|ENST00000299308,p.D384E|uc001uhe.1,p.D384E	retained_intron, protein_coding, processed_transcript	uc021rgl.1	nonsynonymous SNV	exon3	c.C822A	p.D274E	ILQVDFGIDNSSDLAGAQQITWQVE	ILQVDFGIDNSSELAGAQQITWQVE	2.0	8.0	unscreened	-	4037_12:126004045-126004045 C>A_ILQVDFGIDNSSELAGAQQITWQVE
2:157183409-157183409 T>G	0.0	4037	LUNG	-	-	-	-	NR4A2	ENST00000417764,p.Q331H|uc010zcf.2,p.Q394H|ENST00000409572,p.Q394H|uc010zcg.1,p.Q16H|uc002tyz.4,p.Q394H|ENST00000409108,p.Q394H|NM_006186,p.Q394H|ENST00000539077,p.Q405H|ENST00000417972,p.Q331H|uc002tyx.4,p.Q331H|ENST00000426264,p.Q331H|ENST00000339562,p.Q394H|ENST00000429376,p.Q331H	protein_coding, nonsense_mediated_decay	uc010zcg.1	nonsynonymous SNV	exon2	c.A48C	p.Q16H	LDYSRFQANPDYQMSGDDTQHIQQF	LDYSRFQANPDYHMSGDDTQHIQQF	6.0	8.0	unscreened	-	4037_2:157183409-157183409 T>G_LDYSRFQANPDYHMSGDDTQHIQQF
20:33969814-33969814 T>G	0.0	4037	LUNG	-	-	-	-	UQCC1	uc010gfd.2,p.K66N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010gfd.2	nonsynonymous SNV	exon4	c.A198C	p.K66N	LSPFFIVKLSTTKDSPQPVEEKVGA	LSPFFIVKLSTTNDSPQPVEEKVGA	9.0	3.0	unscreened	-	4037_20:33969814-33969814 T>G_LSPFFIVKLSTTNDSPQPVEEKVGA
9:75309577-75309577 A>C	0.0	4037	LUNG	-	-	-	-	TMC1	NM_138691,p.E61D|uc010moz.1,p.E61D|ENST00000297784,p.E61D|uc004aiz.1,p.E61D|ENST00000396237,p.E61D|ENST00000340019,p.E61D	protein_coding, processed_transcript	uc010moz.1	nonsynonymous SNV	exon6	c.A183C	p.E61D	INEDDPEPEPEDEETRKAREKERRR	INEDDPEPEPEDDETRKAREKERRR	2.0	10.0	unscreened	-	4037_9:75309577-75309577 A>C_INEDDPEPEPEDDETRKAREKERRR
X:100356168-100356168 A>G	0.0	4037	LUNG	-	-	-	-	CENPI	uc004egx.3,p.S37G|ENST00000218507,p.S37G|ENST00000403304,p.S37G|ENST00000372926,p.S37G|uc004egy.3,p.S37G|ENST00000372927,p.S37G|NM_006733,p.S37G|ENST00000423383,p.S37G|uc011mrg.2,p.S37G	protein_coding	uc011mrg.2	nonsynonymous SNV	exon3	c.A109G	p.S37G	TTLSAWKVKQDPSNSKNISKHGQNN	TTLSAWKVKQDPGNSKNISKHGQNN	5.0	7.0	unscreened	-	4037_X:100356168-100356168 A>G_TTLSAWKVKQDPGNSKNISKHGQNN
13:24798263-24798263 A>C	1.0	4037	LUNG	-	-	-	-	SPATA13	ENST00000424834,p.K399T|ENST00000382108,p.K399T|uc021rhg.1,p.K399T|NM_001286792,p.K461T|NM_001166271,p.K399T|ENST00000382141,p.K399T|uc001upd.3,p.K461T|uc001upf.2,p.K399T	protein_coding, processed_transcript, nonsense_mediated_decay	uc021rhg.1	nonsynonymous SNV	exon2	c.A1196C	p.K399T	CTVAPGFGSATSKGPHLDADTAVFP	CTVAPGFGSATSTGPHLDADTAVFP	7.0	6.0	unscreened	-	4037_13:24798263-24798263 A>C_CTVAPGFGSATSTGPHLDADTAVFP
14:71524393-71524393 A>T	0.0	4037	LUNG	-	-	-	-	PCNX	ENST00000304743,p.I1602L|ENST00000439984,p.I1491L|NM_014982,p.I1602L|uc001xmo.2,p.I1602L|uc010are.1,p.I1491L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010are.1	nonsynonymous SNV	exon24	c.A4471T	p.I1491L	SDYLNALVHLIEIGNGLVTFQLRGL	SDYLNALVHLIELGNGLVTFQLRGL	6.0	4.0	unscreened	-	4037_14:71524393-71524393 A>T_SDYLNALVHLIELGNGLVTFQLRGL
3:107096724-107096724 A>G	0.0	4037	LUNG	-	-	-	-	CCDC54	ENST00000261058,p.K97R|uc003dwi.1,p.K97R|NM_032600,p.K97R	protein_coding	uc003dwi.1	nonsynonymous SNV	exon1	c.A290G	p.K97R	TDIVHMIPKVQEKTDLYQKQMEVLE	TDIVHMIPKVQERTDLYQKQMEVLE	1.0	7.0	unscreened	-	4037_3:107096724-107096724 A>G_TDIVHMIPKVQERTDLYQKQMEVLE
8:125103683-125103683 A>G	0.0	4037	LUNG	-	-	-	-	FER1L6	ENST00000522917,p.R1471G|ENST00000399018,p.R1471G|NM_001039112,p.R1471G|uc003yqw.3,p.R1471G	protein_coding	uc003yqw.3	nonsynonymous SNV	exon34	c.A4411G	p.R1471G	QSQYEIEGYNAWRDTSKPTEILTKL	QSQYEIEGYNAWGDTSKPTEILTKL	1.0	1.0	unscreened	-	4037_8:125103683-125103683 A>G_QSQYEIEGYNAWGDTSKPTEILTKL
3:127646639-127646639 A>C	0.0	4037	LUNG	-	-	-	-	KBTBD12	ENST00000343941,p.S10R|uc003eka.4,p.S10R	retained_intron, protein_coding, processed_transcript	uc003eka.4	nonsynonymous SNV	exon2	c.A28C	p.S10R	MIEETSFGKSYAQLNFENSMLW	MIEETSFGKRYAQLNFENSMLW	1.0	1.0	unscreened	-	4037_3:127646639-127646639 A>C_MIEETSFGKRYAQLNFENSMLW
3:187447168-187447168 T>C	1.0	4037	LUNG	-	-	-	1	BCL6	uc011bsf.1,p.N342S|uc010hza.2,p.N240S|ENST00000406870,p.N342S|ENST00000232014,p.N342S|uc003frq.2,p.N342S|NM_001130845,p.N342S|ENST00000450123,p.N342S|NM_001134738,p.N342S|NM_001706,p.N342S|uc003frp.3,p.N342S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bsf.1	nonsynonymous SNV	exon4	c.A1025G	p.N342S	SPQSPQKSDCQPNSPTESCSSKNAC	SPQSPQKSDCQPSSPTESCSSKNAC	9.0	5.0	unscreened	-	4037_3:187447168-187447168 T>C_SPQSPQKSDCQPSSPTESCSSKNAC
19:4896828-4896828 A>G	0.0	4037	LUNG	-	-	-	-	ARRDC5	uc002mbm.3,p.L119P|ENST00000381781,p.L119P|NM_001080523,p.L119P	protein_coding	uc002mbm.3	nonsynonymous SNV	exon2	c.T356C	p.L119P	HTFDFHFNLPPRLPSTFTSKFGHVF	HTFDFHFNLPPRPPSTFTSKFGHVF	3.0	6.0	unscreened	-	4037_19:4896828-4896828 A>G_HTFDFHFNLPPRPPSTFTSKFGHVF
11:61725676-61725676 T>C	0.0	4037	LUNG	-	-	-	-	BEST1	NM_001300787,p.L198P|uc010rlp.2,p.L198P|NM_004183,p.L258P|NM_001300786,p.L198P|ENST00000524926,p.L258P|uc010rlq.1,p.L198P|ENST00000526988,p.L152P|uc010rlt.2,p.L198P|ENST00000378042,p.L198P|NM_001139443,p.L198P|ENST00000378043,p.L258P|uc010rlu.1,p.L152P|uc001nsr.2,p.L198P|uc001nss.3,p.L258P|uc010rlv.2,p.L152P|uc001nsq.3,p.L152P|ENST00000449131,p.L198P|uc001nst.3,p.L198P	retained_intron, protein_coding, nonsense_mediated_decay	uc010rlv.2	nonsynonymous SNV	exon5	c.T455C	p.L152P	SFFLTCLVGRQFLNPAKAYPGHELD	SFFLTCLVGRQFPNPAKAYPGHELD	2.0	6.0	unscreened	-	4037_11:61725676-61725676 T>C_SFFLTCLVGRQFPNPAKAYPGHELD
2:70780366-70780366 T>G	0.0	4037	LUNG	-	-	-	-	TGFA	ENST00000444975,p.K3T|uc010fdq.3,p.K3T|uc010fdr.3,p.K3T|ENST00000450929,p.K3T	protein_coding, processed_transcript	uc010fdr.3	nonsynonymous SNV	exon1	c.A8C	p.K3T	MFKIGRGALDLFSEL	MFTIGRGALDLFSEL	4.0	2.0	unscreened	-	4037_2:70780366-70780366 T>G_MFTIGRGALDLFSEL
15:67457648-67457648 T>A	0.0	4037	LUNG	-	-	-	1	SMAD3	NM_001145102,p.L48Q|ENST00000559460,p.L48Q|ENST00000439724,p.L109Q|ENST00000327367,p.L153Q|ENST00000558739,p.L48Q|NM_005902,p.L153Q|uc010ujs.2,p.L109Q|NM_001145103,p.L109Q|uc002aqj.3,p.L153Q|ENST00000560175,p.L48Q|ENST00000558894,p.L48Q|uc010ujr.2,p.L48Q|ENST00000540846,p.L48Q	retained_intron, protein_coding	uc010ujs.2	nonsynonymous SNV	exon3	c.T326A	p.L109Q	PRHTEIPAEFPPLDDYSHSIPENTN	PRHTEIPAEFPPQDDYSHSIPENTN	6.0	2.0	unscreened	-	4037_15:67457648-67457648 T>A_PRHTEIPAEFPPQDDYSHSIPENTN
10:7423856-7423856 T>A	0.0	4037	LUNG	-	-	-	-	SFMBT2	ENST00000379713,p.E2V|NM_001029880,p.E2V|ENST00000379711,p.E2V|uc001ijo.2,p.E2V|NM_001018039,p.E2V|uc009xio.2,p.E2V|ENST00000397167,p.E2V|ENST00000397160,p.E2V|uc001ijn.2,p.E2V|uc010qay.2,p.E2V|ENST00000361972,p.E2V	protein_coding	uc010qay.2	nonsynonymous SNV	exon2	c.A5T	p.E2V	MESTLSASNMQDPS	MVSTLSASNMQDPS	5.0	1.0	unscreened	-	4037_10:7423856-7423856 T>A_MVSTLSASNMQDPS
18:12095181-12095181 T>C	0.0	4037	LUNG	-	-	-	-	ANKRD62	NM_001277333,p.L77P|uc031rhk.1,p.L77P|ENST00000314074,p.L63P|ENST00000586406,p.L77P	protein_coding	uc031rhk.1	nonsynonymous SNV	exon2	c.T230C	p.L77P	LNDRDKKNRTALLLACAHGRPGVVA	LNDRDKKNRTALPLACAHGRPGVVA	1.0	7.0	unscreened	-	4037_18:12095181-12095181 T>C_LNDRDKKNRTALPLACAHGRPGVVA
8:65494026-65494026 A>G	0.0	4037	LUNG	-	-	-	-	BHLHE22	uc003xvi.3,p.S227G|NM_152414,p.S227G|ENST00000321870,p.S227G	protein_coding	uc003xvi.3	nonsynonymous SNV	exon1	c.A679G	p.S227G	GGGGSGSGSGGSSSSSSSSSKKSKE	GGGGSGSGSGGSGSSSSSSSKKSKE	2.0	10.0	unscreened	-	4037_8:65494026-65494026 A>G_GGGGSGSGSGGSGSSSSSSSKKSKE
12:48578350-48578350 A>C	0.0	4037	LUNG	-	-	-	-	CCDC184	ENST00000316554,p.S149R|NM_001013635,p.S149R|uc001rrj.2,p.S149R	protein_coding	uc001rrj.2	nonsynonymous SNV	exon1	c.A445C	p.S149R	DEEEEEEEKEMPSPATPSSHCERPE	DEEEEEEEKEMPRPATPSSHCERPE	1.0	6.0	unscreened	-	4037_12:48578350-48578350 A>C_DEEEEEEEKEMPRPATPSSHCERPE
16:23698805-23698805 T>A	1.0	4037	LUNG	-	-	-	-	PLK1	NM_005030,p.L351Q|uc002dlz.1,p.L351Q|ENST00000300093,p.L351Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dlz.1	nonsynonymous SNV	exon6	c.T1052A	p.L351Q	PLTVLNKGLENPLPERPREKEEPVV	PLTVLNKGLENPQPERPREKEEPVV	9.0	5.0	unscreened	-	4037_16:23698805-23698805 T>A_PLTVLNKGLENPQPERPREKEEPVV
1:11586747-11586747 A>-	0.0	4037	LUNG	-	-	-	-	PTCHD2	NM_020780,p.T885fs|ENST00000294484,p.T885fs|ENST00000389575,p.T885fs|uc001asi.1,p.T885fs|uc001ash.4,p.T885fs	protein_coding, processed_transcript	uc001asi.1	frameshift deletion	exon12	c.2653delA	p.T885fs	YRAPFGNFTKKLTACMSTVGLLQAA	YRAPFGNFTKKLPLVCLQ	1.0	3.0	unscreened	-	4037_1:11586747-11586747 A>-_YRAPFGNFTKKLPLVCLQ
9:35044842-35044842 T>G	0.0	4037	LUNG	-	-	-	-	C9orf131	NM_001040410,p.V704G|ENST00000421362,p.V691G|ENST00000354479,p.V666G|uc003zvx.3,p.V704G|uc003zvw.3,p.V739G|uc003zvu.3,p.V691G|NM_203299,p.V739G|NM_001287391,p.V666G|NM_001040412,p.V691G|uc003zvv.3,p.V666G|ENST00000312292,p.V739G|NM_001040411,p.V666G	protein_coding, nonsense_mediated_decay	uc003zvx.3	nonsynonymous SNV	exon2	c.T2111G	p.V704G	HPVPQPPTLAEAVKIERTHPGLPKG	HPVPQPPTLAEAGKIERTHPGLPKG	1.0	1.0	unscreened	-	4037_9:35044842-35044842 T>G_HPVPQPPTLAEAGKIERTHPGLPKG
7:65419353-65419353 ->TTA	1.0	4037	LUNG	-	-	ID=COSM1091309;OCCURENCE=1(endometrium)	-	VKORC1L1	uc011kds.2,p.F163delinsFI|ENST00000434382,p.F163delinsFI|NM_001284342,p.F163delinsFI	protein_coding	uc011kds.2	nonframeshift insertion	exon2	c.487_488insTTA	p.F163delinsFI	KPLSIQFILQQVFIIIIIIIIHNRH	KPLSIQFILQQVFIIIIIIIIIHNR	9.0	9.0	unscreened	-	4037_7:65419353-65419353 ->TTA_KPLSIQFILQQVFIIIIIIIIIHNR
10:69961710-69961710 G>T	0.0	4037	LUNG	-	-	-	-	MYPN	ENST00000354393,p.K931N|NM_001256267,p.K1206N|uc010qit.3,p.K912N|uc001jnm.5,p.K1206N|uc001jnn.5,p.K931N|NM_001256268,p.K912N|ENST00000358913,p.K1206N|uc009xpt.3,p.K1206N|NM_032578,p.K1206N|uc001jno.4,p.K1206N|ENST00000540630,p.K1206N	protein_coding	uc010qit.3	nonsynonymous SNV	exon22	c.G2736T	p.K912N	RVIGMPPPVFYWKKDNETIPCTRER	RVIGMPPPVFYWNKDNETIPCTRER	1.0	9.0	unscreened	-	4037_10:69961710-69961710 G>T_RVIGMPPPVFYWNKDNETIPCTRER
3:127646639-127646639 A>C	0.0	4037	LUNG	-	-	-	-	KBTBD12	ENST00000405109,p.K368T|NM_207335,p.K368T|ENST00000405256,p.K368T|uc003ejz.2,p.K368T|uc010hsr.3,p.K368T	retained_intron, protein_coding, processed_transcript	uc010hsr.3	nonsynonymous SNV	exon2	c.A1103C	p.K368T	YRYHDRGNQFWEKLCTAEFRELYAL	YRYHDRGNQFWETLCTAEFRELYAL	1.0	1.0	unscreened	-	4037_3:127646639-127646639 A>C_YRYHDRGNQFWETLCTAEFRELYAL
13:114434248-114434248 T>G	0.0	4037	LUNG	-	-	-	-	GRK1	NM_002929,p.F376V|ENST00000335678,p.F376V|uc010tkf.2,p.F376V	protein_coding	uc010tkf.2	nonsynonymous SNV	exon5	c.T1126G	p.F376V	LQGEEYDFSVDYFALGVTLYEMIAA	LQGEEYDFSVDYVALGVTLYEMIAA	1.0	3.0	unscreened	-	4037_13:114434248-114434248 T>G_LQGEEYDFSVDYVALGVTLYEMIAA
7:128480907-128480907 A>C	0.0	4037	LUNG	-	-	-	-	FLNC	uc003vnz.4,p.S566R|ENST00000346177,p.S566R|NM_001127487,p.S566R|ENST00000325888,p.S566R|uc003voa.4,p.S566R|NM_001458,p.S566R	retained_intron, protein_coding	uc003voa.4	nonsynonymous SNV	exon11	c.A1696C	p.S566R	YAIPRSPFEVQVSPEAGVQKVRAWG	YAIPRSPFEVQVRPEAGVQKVRAWG	3.0	4.0	unscreened	-	4037_7:128480907-128480907 A>C_YAIPRSPFEVQVRPEAGVQKVRAWG
X:71360048-71360048 T>G	0.0	4037	LUNG	-	-	-	-	NHSL2	uc010nli.2,p.L653V|ENST00000535692,p.L518V|ENST00000510661,p.L653V|uc011mqa.2,p.L884V|ENST00000540800,p.L884V|ENST00000373677,p.L518V|uc004eak.1,p.L518V|NM_001013627,p.L884V	protein_coding	uc011mqa.2	nonsynonymous SNV	exon6	c.T2650G	p.L884V	AEKPPVARRPPSLVHKPPSVPEEYA	AEKPPVARRPPSVVHKPPSVPEEYA	3.0	6.0	unscreened	-	4037_X:71360048-71360048 T>G_AEKPPVARRPPSVVHKPPSVPEEYA
1:67109335-67109335 A>T	0.0	4037	LUNG	-	-	-	-	SGIP1	uc001dcr.3,p.K131M|ENST00000371037,p.K131M|ENST00000371035,p.K88M|NM_032291,p.K131M|ENST00000371039,p.K107M|ENST00000237247,p.K135M|ENST00000371036,p.K106M|ENST00000424320,p.K131M	protein_coding, processed_transcript	uc001dcr.3	nonsynonymous SNV	exon7	c.A392T	p.K131M	IKIKPLQSKDILKNAATVDELKASI	IKIKPLQSKDILMNAATVDELKASI	4.0	5.0	unscreened	-	4037_1:67109335-67109335 A>T_IKIKPLQSKDILMNAATVDELKASI
1:158670007-158670007 T>G	0.0	4037	LUNG	-	-	-	-	OR6K2	NM_001005279,p.S146R|ENST00000359610,p.S146R|uc001fsu.1,p.S146R	protein_coding	uc001fsu.1	nonsynonymous SNV	exon1	c.A436C	p.S146R	IMTPKLCTQLTLSCCVCGFITPLPE	IMTPKLCTQLTLRCCVCGFITPLPE	1.0	3.0	unscreened	-	4037_1:158670007-158670007 T>G_IMTPKLCTQLTLRCCVCGFITPLPE
16:4382304-4382304 T>G	0.0	4037	LUNG	-	-	-	-	GLIS2	uc002cwc.1,p.L8R|NM_032575,p.L8R|ENST00000433375,p.L8R|ENST00000262366,p.L8R	protein_coding	uc002cwc.1	nonsynonymous SNV	exon1	c.T23G	p.L8R	MHSLDEPLDLKLSITKLRAA	MHSLDEPRDLKLSITKLRAA	5.0	6.0	unscreened	-	4037_16:4382304-4382304 T>G_MHSLDEPRDLKLSITKLRAA
21:41516510-41516510 T>C	0.0	4037	LUNG	-	-	-	-	DSCAM	ENST00000404019,p.K808R|uc031rvr.1,p.K1056R|NM_001271534,p.K1056R|NM_001389,p.K1056R|ENST00000400454,p.K1056R|uc002yyq.1,p.K1056R	protein_coding	uc031rvr.1	nonsynonymous SNV	exon17	c.A3167G	p.K1056R	GDSEVYTLDNLNKFTQYGLVVQACN	GDSEVYTLDNLNRFTQYGLVVQACN	1.0	6.0	unscreened	-	4037_21:41516510-41516510 T>C_GDSEVYTLDNLNRFTQYGLVVQACN
12:120580674-120580675 TC>-	1.0	4037	LUNG	-	-	-	-	GCN1L1	ENST00000300648,p.E1856fs|NM_006836,p.E1856fs|uc001txo.3,p.E1856fs	retained_intron, protein_coding	uc001txo.3	frameshift deletion	exon43	c.5566_5567del	p.E1856fs	FHISGVTGKMTTETASEDDNFGTAQ	FHISGVTGKMTTNCL	7.0	9.0	unscreened	-	4037_12:120580674-120580675 TC>-_FHISGVTGKMTTNCL
4:144619619-144619619 T>G	0.0	4037	LUNG	-	-	-	-	FREM3	NM_001168235,p.D737A|ENST00000329798,p.D737A|uc021xsj.1,p.D737A	protein_coding, processed_transcript	uc021xsj.1	nonsynonymous SNV	exon1	c.A2210C	p.D737A	KNFLRYIDQDSDDQNLWYTLLTLPT	KNFLRYIDQDSDAQNLWYTLLTLPT	1.0	9.0	unscreened	-	4037_4:144619619-144619619 T>G_KNFLRYIDQDSDAQNLWYTLLTLPT
8:75761436-75761436 A>G	0.0	4037	LUNG	-	-	-	-	PI15	ENST00000260113,p.D242G|uc003yal.3,p.D242G|NM_015886,p.D242G|ENST00000523773,p.D242G|uc003yam.3,p.D242G	protein_coding	uc003yam.3	nonsynonymous SNV	exon5	c.A725G	p.D242G	SSCPPSYGGSCTDNLCFPGVTSNYL	SSCPPSYGGSCTGNLCFPGVTSNYL	4.0	7.0	unscreened	-	4037_8:75761436-75761436 A>G_SSCPPSYGGSCTGNLCFPGVTSNYL
7:138313028-138313028 T>G	0.0	4037	LUNG	-	-	-	-	SVOPL	ENST00000419765,p.K315T|ENST00000436657,p.K163T|uc011kqh.2,p.K315T|ENST00000441685,p.K68T|NM_001139456,p.K315T|NM_174959,p.K163T|ENST00000288513,p.K163T|uc003vue.3,p.K163T|ENST00000421622,p.K195T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kqh.2	nonsynonymous SNV	exon10	c.A944C	p.K315T	AELLERDLVCGSKSDSAVVVTGGDS	AELLERDLVCGSTSDSAVVVTGGDS	1.0	3.0	unscreened	-	4037_7:138313028-138313028 T>G_AELLERDLVCGSTSDSAVVVTGGDS
8:65494029-65494029 A>G	0.0	4037	LUNG	-	-	-	-	BHLHE22	ENST00000321870,p.S228G|uc003xvi.3,p.S228G|NM_152414,p.S228G	protein_coding	uc003xvi.3	nonsynonymous SNV	exon1	c.A682G	p.S228G	GGGSGSGSGGSSSSSSSSSKKSKEQ	GGGSGSGSGGSSGSSSSSSKKSKEQ	2.0	10.0	unscreened	-	4037_8:65494029-65494029 A>G_GGGSGSGSGGSSGSSSSSSKKSKEQ
19:12430059-12430059 T>G	0.0	4037	LUNG	-	-	ID=COSM219538;OCCURENCE=1(breast)	-	ZNF563	ENST00000293725,p.K260N|NM_145276,p.K260N|ENST00000594577,p.K172N|uc002mtp.3,p.K260N	protein_coding	uc002mtp.3	nonsynonymous SNV	exon4	c.A780C	p.K260N	TGEKPYECKQCSKALPDSSSYIRHE	TGEKPYECKQCSNALPDSSSYIRHE	4.0	7.0	unscreened	-	4037_19:12430059-12430059 T>G_TGEKPYECKQCSNALPDSSSYIRHE
3:134851616-134851616 A>C	0.0	4037	LUNG	-	-	-	-	EPHB1	NM_004441,p.E341A|ENST00000398015,p.E341A|uc003eqt.3,p.E341A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003eqt.3	nonsynonymous SNV	exon5	c.A1022C	p.E341A	VISIVNETSIILEWHPPRETGGRDD	VISIVNETSIILAWHPPRETGGRDD	3.0	8.0	unscreened	-	4037_3:134851616-134851616 A>C_VISIVNETSIILAWHPPRETGGRDD
12:132426046-132426046 A>G	0.0	4037	LUNG	-	-	-	-	PUS1	NM_001002020,p.K224E|NM_001002019,p.K224E|NM_025215,p.K252E|ENST00000322060,p.K224E|uc001ujg.3,p.K224E|uc001ujh.3,p.K224E|ENST00000376649,p.K252E|ENST00000443358,p.K224E|ENST00000542167,p.K199E|ENST00000440818,p.K224E|uc001uji.3,p.K199E|uc001ujf.3,p.K252E	retained_intron, protein_coding	uc001uji.3	nonsynonymous SNV	exon3	c.A595G	p.K199E	KGTHNFHNFTSQKGPQDPSACRYIL	KGTHNFHNFTSQEGPQDPSACRYIL	9.0	1.0	unscreened	-	4037_12:132426046-132426046 A>G_KGTHNFHNFTSQEGPQDPSACRYIL
1:248551719-248551719 A>T	0.0	4037	LUNG	-	-	-	-	OR2T6	NM_001005471,p.K270N|ENST00000355728,p.K270N|uc001iei.1,p.K270N	protein_coding	uc001iei.1	nonsynonymous SNV	exon1	c.A810T	p.K270N	TYTLPQSYHTPIKDKVFSAFYTILT	TYTLPQSYHTPINDKVFSAFYTILT	1.0	4.0	unscreened	-	4037_1:248551719-248551719 A>T_TYTLPQSYHTPINDKVFSAFYTILT
10:47663341-47663341 A>C	0.0	4037	LUNG	-	-	-	-	ANTXRL	NM_001278688,p.E99A|ENST00000447511,p.E99A|ENST00000537271,p.E99A	retained_intron, protein_coding, nonsense_mediated_decay	NM_001278688	nonsynonymous SNV	exon2	c.A296C	p.E99A	VNNNWIDLYMWVEETVARFQSPNIR	VNNNWIDLYMWVAETVARFQSPNIR	1.0	1.0	unscreened	-	4037_10:47663341-47663341 A>C_VNNNWIDLYMWVAETVARFQSPNIR
13:29601027-29601027 A>C	0.0	4037	LUNG	-	-	ID=COSM147658;OCCURENCE=1(stomach)	-	MTUS2	NM_001033602,p.K741T|ENST00000431530,p.K741T|uc001usl.4,p.K741T	retained_intron, protein_coding, processed_transcript	uc001usl.4	nonsynonymous SNV	exon1	c.A2222C	p.K741T	KPPGHPFSQMSEKFLQEVTDHPGKE	KPPGHPFSQMSETFLQEVTDHPGKE	1.0	7.0	unscreened	-	4037_13:29601027-29601027 A>C_KPPGHPFSQMSETFLQEVTDHPGKE
18:44118154-44118154 A>C	0.0	4037	LUNG	-	-	-	-	LOXHD1	uc010xcv.2,p.F287V|uc002lcg.1,p.F1076V|NM_001145472,p.F243V|NM_144612,p.F1354V|ENST00000582408,p.F243V|ENST00000579038,p.F147V|ENST00000441893,p.F287V|ENST00000536111,p.F256V|ENST00000398722,p.F1076V|uc002lcf.4,p.F243V|ENST00000300591,p.F243V|ENST00000441551,p.F1148V|uc010xcw.1,p.F1354V|uc002lce.4,p.F147V|ENST00000536736,p.F1354V	retained_intron, protein_coding, nonsense_mediated_decay	uc010xcw.1	nonsynonymous SNV	exon26	c.T4060G	p.F1354V	YLCTNKREQKQFFERKSASRFIVEL	YLCTNKREQKQFVERKSASRFIVEL	1.0	1.0	unscreened	-	4037_18:44118154-44118154 A>C_YLCTNKREQKQFVERKSASRFIVEL
3:49700756-49700756 A>G	1.0	4037	LUNG	-	-	-	-	BSN	ENST00000296452,p.K3722R|NM_003458,p.K3722R|uc003cxe.4,p.K3722R	retained_intron, protein_coding	uc003cxe.4	nonsynonymous SNV	exon7	c.A11165G	p.K3722R	RASSAYHHASDSKKGSRQAHSGPAA	RASSAYHHASDSRKGSRQAHSGPAA	1.0	8.0	unscreened	-	4037_3:49700756-49700756 A>G_RASSAYHHASDSRKGSRQAHSGPAA
7:20784985-20784985 G>C	0.0	4037	LUNG	-	-	-	-	ABCB5	ENST00000404938,p.R1118P|ENST00000258738,p.R673P|ENST00000441315,p.R285P|NM_178559,p.R673P|uc010kuh.3,p.R1118P|uc003suw.4,p.R673P|NM_001163941,p.R1118P	protein_coding, processed_transcript, nonsense_mediated_decay	uc010kuh.3	nonsynonymous SNV	exon26	c.G3353C	p.R1118P	SIAENIAYGDNSRVVPLDEIKEAAN	SIAENIAYGDNSPVVPLDEIKEAAN	1.0	2.0	unscreened	-	4037_7:20784985-20784985 G>C_SIAENIAYGDNSPVVPLDEIKEAAN
19:15483975-15483975 A>T	1.0	4037	LUNG	-	-	-	-	AKAP8	ENST00000269701,p.L183H|NM_005858,p.L183H|uc002nav.3,p.L183H|ENST00000598597,p.L183H	retained_intron, protein_coding, nonsense_mediated_decay	uc002nav.3	nonsynonymous SNV	exon5	c.T548A	p.L183H	SECRDPARERGSLDGFMRGRGQGRF	SECRDPARERGSHDGFMRGRGQGRF	7.0	8.0	unscreened	-	4037_19:15483975-15483975 A>T_SECRDPARERGSHDGFMRGRGQGRF
11:117975447-117975447 T>C	0.0	4037	LUNG	-	-	-	-	TMPRSS4	uc010rxr.2,p.S93P|NM_001083947,p.S118P|uc010rxs.2,p.S78P|ENST00000534111,p.S116P|ENST00000522824,p.S118P|ENST00000519236,p.S116P|ENST00000437212,p.S118P|uc021qrd.1,p.S118P|NM_001173551,p.S116P|uc010rxt.2,p.S93P|uc021qre.1,p.S118P|ENST00000523251,p.S78P|uc010rxo.2,p.S116P|NM_001290094,p.S93P|NM_001173552,p.S78P|ENST00000522151,p.S65P|NM_019894,p.S118P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qre.1	nonsynonymous SNV	exon5	c.T352C	p.S118P	LSKDRSTLQVLDSATGNWFSACFDN	LSKDRSTLQVLDPATGNWFSACFDN	1.0	3.0	unscreened	-	4037_11:117975447-117975447 T>C_LSKDRSTLQVLDPATGNWFSACFDN
10:75526272-75526272 T>G	1.0	4037	LUNG	-	-	-	-	SEC24C	uc001juw.3,p.V591G|ENST00000411652,p.V472G|NM_004922,p.V591G|uc010qko.2,p.V472G|NM_198597,p.V591G|ENST00000465076,p.V591G|ENST00000339365,p.V591G|ENST00000345254,p.V591G|uc001jux.3,p.V591G|uc009xrj.2,p.V449G	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qko.2	nonsynonymous SNV	exon12	c.T1415G	p.V472G	MFVPLLDGFLVNVNESRAVITSLLD	MFVPLLDGFLVNGNESRAVITSLLD	9.0	4.0	unscreened	-	4037_10:75526272-75526272 T>G_MFVPLLDGFLVNGNESRAVITSLLD
15:34040395-34040395 A>C	0.0	4037	LUNG	-	-	-	-	RYR3	ENST00000389232,p.K2690N|ENST00000415757,p.K2690N|NM_001243996,p.K2690N|uc010bar.3,p.K2690N|NM_001036,p.K2690N|uc001zhi.3,p.K2690N	retained_intron, protein_coding, processed_transcript	uc010bar.3	nonsynonymous SNV	exon54	c.A8070C	p.K2690N	TMLAVGWTVERTKEGEALVQQRENE	TMLAVGWTVERTNEGEALVQQRENE	1.0	4.0	unscreened	-	4037_15:34040395-34040395 A>C_TMLAVGWTVERTNEGEALVQQRENE
12:122091067-122091067 A>G	0.0	4037	LUNG	-	-	-	-	MORN3	uc001uax.3,p.W188R|NM_173855,p.W188R|ENST00000355329,p.W188R	protein_coding, nonsense_mediated_decay	uc001uax.3	nonsynonymous SNV	exon4	c.T562C	p.W188R	FHLDHGQLFEGFWVDNMAKCGTMID	FHLDHGQLFEGFRVDNMAKCGTMID	1.0	5.0	unscreened	-	4037_12:122091067-122091067 A>G_FHLDHGQLFEGFRVDNMAKCGTMID
21:40834358-40834358 A>G	1.0	4037	LUNG	-	-	-	-	SH3BGR	ENST00000333634,p.K98E|NM_007341,p.K98E|uc002yya.3,p.K98E	protein_coding	uc002yya.3	nonsynonymous SNV	exon2	c.A292G	p.K98E	VVGFLEANKIDFKELDIAGDEDNRR	VVGFLEANKIDFEELDIAGDEDNRR	6.0	2.0	unscreened	-	4037_21:40834358-40834358 A>G_VVGFLEANKIDFEELDIAGDEDNRR
12:10168316-10168316 T>C	0.0	4037	LUNG	-	-	-	-	CLEC12B	ENST00000338896,p.S224P|uc001qwz.2,p.S224P|NM_001129998,p.S224P	retained_intron, protein_coding, nonsense_mediated_decay	uc001qwz.2	nonsynonymous SNV	exon5	c.T670C	p.S224P	GRSWFWEDGSVPSPSLFSTKELDQI	GRSWFWEDGSVPPPSLFSTKELDQI	1.0	5.0	unscreened	-	4037_12:10168316-10168316 T>C_GRSWFWEDGSVPPPSLFSTKELDQI
12:29648356-29648356 C>T	0.0	4037	LUNG	-	-	-	-	OVCH1	uc001rix.1,p.E106K|NM_183378,p.E106K|ENST00000318184,p.E106K	protein_coding, nonsense_mediated_decay	uc001rix.1	nonsynonymous SNV	exon4	c.G316A	p.E106K	EKQLKNITVTSGEYSLFQKDKQEQN	EKQLKNITVTSGKYSLFQKDKQEQN	1.0	2.0	unscreened	-	4037_12:29648356-29648356 C>T_EKQLKNITVTSGKYSLFQKDKQEQN
19:42873771-42873771 T>C	0.0	4037	LUNG	-	-	-	-	MEGF8	ENST00000251268,p.F2244L|ENST00000334370,p.F2177L|uc002otl.4,p.F2177L|uc002otm.5,p.F2244L|NM_001410,p.F2177L|NM_001271938,p.F2244L	retained_intron, protein_coding	uc002otm.5	nonsynonymous SNV	exon38	c.T6730C	p.F2244L	CVEPDHCRCHFGFVGRNCSTECRCN	CVEPDHCRCHFGLVGRNCSTECRCN	6.0	7.0	unscreened	-	4037_19:42873771-42873771 T>C_CVEPDHCRCHFGLVGRNCSTECRCN
12:29631771-29631771 A>C	0.0	4037	LUNG	-	-	-	-	OVCH1	NM_183378,p.F356V|uc001rix.1,p.F356V|ENST00000318184,p.F356V	protein_coding, nonsense_mediated_decay	uc001rix.1	nonsynonymous SNV	exon9	c.T1066G	p.F356V	DYVSLRSSSGVLFNQRSLMEDDGKQ	DYVSLRSSSGVLVNQRSLMEDDGKQ	1.0	4.0	unscreened	-	4037_12:29631771-29631771 A>C_DYVSLRSSSGVLVNQRSLMEDDGKQ
18:8831749-8831749 T>G	0.0	4037	LUNG	-	-	-	-	MTCL1	ENST00000518815,p.L948V|ENST00000306285,p.L948V|uc002kns.2,p.L963V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kns.2	nonsynonymous SNV	exon10	c.T2887G	p.L963V	ASQPQSPGDPTSLEEHGGEEPPEEQ	ASQPQSPGDPTSVEEHGGEEPPEEQ	4.0	2.0	unscreened	-	4037_18:8831749-8831749 T>G_ASQPQSPGDPTSVEEHGGEEPPEEQ
16:15834016-15834016 T>G	0.0	4037	LUNG	-	-	-	1	MYH11	NM_001040113,p.E970D|uc002ddx.3,p.E970D|uc002ddv.3,p.E970D|uc002ddw.3,p.E963D|uc002ddy.3,p.E963D|ENST00000576790,p.E963D|ENST00000452625,p.E970D|ENST00000396324,p.E970D|ENST00000338282,p.E963D|NM_022844,p.E963D|uc010bvg.3,p.E795D|NM_002474,p.E963D|NM_001040114,p.E970D|ENST00000300036,p.E963D	retained_intron, protein_coding, processed_transcript	uc010bvg.3	nonsynonymous SNV	exon24	c.A2385C	p.E795D	QMLDLEEQLEEEEAARQKLQLEKVT	QMLDLEEQLEEEDAARQKLQLEKVT	6.0	1.0	unscreened	-	4037_16:15834016-15834016 T>G_QMLDLEEQLEEEDAARQKLQLEKVT
3:75788382-75788382 C>T	0.0	4037	LUNG	-	-	-	-	ZNF717	ENST00000478296,p.G81E|ENST00000422325,p.G131E|ENST00000400845,p.G124E|NM_001128223,p.G131E|NM_001290208,p.G131E|NM_001290209,p.G81E|uc011bgi.2,p.G131E	protein_coding, processed_transcript	uc011bgi.2	nonsynonymous SNV	exon5	c.G392A	p.G131E	NSNTSTQERVELGKTFNLNSNHVLN	NSNTSTQERVELEKTFNLNSNHVLN	4.0	3.0	unscreened	-	4037_3:75788382-75788382 C>T_NSNTSTQERVELEKTFNLNSNHVLN
1:210329226-210329226 T>C	0.0	4037	LUNG	-	-	-	-	SYT14	ENST00000399639,p.F442S	protein_coding, processed_transcript	ENST00000399639	nonsynonymous SNV	exon7	c.T1325C	p.F442S	GRLSAEVIKGSHFKNLAANRPPKMD	GRLSAEVIKGSHSKNLAANRPPKMD	1.0	8.0	unscreened	-	4037_1:210329226-210329226 T>C_GRLSAEVIKGSHSKNLAANRPPKMD
3:39153982-39153982 T>G	0.0	4037	LUNG	-	-	-	-	TTC21A	uc003cja.3,p.S157A|ENST00000430597,p.S157A|ENST00000431162,p.S157A|uc003cjc.2,p.S157A|NM_145755,p.S157A|ENST00000301819,p.S157A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003cjc.2	nonsynonymous SNV	exon5	c.T469G	p.S157A	EAYVLRGWVDLTSDKPHTAKKAIEY	EAYVLRGWVDLTADKPHTAKKAIEY	4.0	3.0	unscreened	-	4037_3:39153982-39153982 T>G_EAYVLRGWVDLTADKPHTAKKAIEY
17:62856296-62856296 T>C	0.0	4037	LUNG	-	-	-	-	LRRC37A3	ENST00000334962,p.K300R|uc002jey.2,p.K1323R|uc031rdq.1,p.K1272R|NM_199340,p.K1323R|uc031rea.1,p.K1299R|ENST00000339474,p.K441R|ENST00000319651,p.K1323R|uc031rdx.1,p.K1329R|uc010wqg.1,p.K441R|uc010wqf.1,p.K361R|uc010dek.2,p.K1248R|ENST00000584306,p.K1323R|uc031rdu.1,p.K1199R|uc031rdn.1,p.K329R|uc002jex.1,p.K300R|uc031rdo.1,p.K361R|ENST00000400877,p.K361R|uc031reb.1,p.K1274R|uc031rdz.1,p.K1299R	protein_coding, processed_transcript	uc031reb.1	nonsynonymous SNV	exon7	c.A3821G	p.K1274R	RSRMTHRTPKVKKSPKVRKKSYLSR	RSRMTHRTPKVKRSPKVRKKSYLSR	5.0	4.0	unscreened	-	4037_17:62856296-62856296 T>C_RSRMTHRTPKVKRSPKVRKKSYLSR
1:210329226-210329226 T>C	0.0	4037	LUNG	-	-	-	-	SYT14	ENST00000422431,p.F487S|NM_001146262,p.F442S|uc001hht.5,p.F442S|NM_001146261,p.F487S|ENST00000367019,p.F442S|uc001hhs.5,p.F487S	protein_coding, processed_transcript	uc001hht.5	nonsynonymous SNV	exon7	c.T1325C	p.F442S	GRLSAEVIKGSHFKNLAANRPPNGL	GRLSAEVIKGSHSKNLAANRPPNGL	1.0	8.0	unscreened	-	4037_1:210329226-210329226 T>C_GRLSAEVIKGSHSKNLAANRPPNGL
19:51128483-51128483 T>C	0.0	4037	LUNG	-	-	-	-	SYT3	NM_032298,p.E548G|NM_001160329,p.E548G|uc002psv.3,p.E548G|uc002pst.3,p.E548G|ENST00000595557,p.E22G|ENST00000544769,p.E548G|NM_001160328,p.E548G|ENST00000338916,p.E548G|ENST00000593901,p.E548G|ENST00000600079,p.E548G|uc010ycd.2,p.E548G	retained_intron, protein_coding, nonsense_mediated_decay	uc010ycd.2	nonsynonymous SNV	exon9	c.A1643G	p.E548G	RVGPDAADPHGREHWAEMLANPRKP	RVGPDAADPHGRGHWAEMLANPRKP	4.0	4.0	unscreened	-	4037_19:51128483-51128483 T>C_RVGPDAADPHGRGHWAEMLANPRKP
1:114246697-114246697 T>G	0.0	4037	LUNG	-	-	-	-	PHTF1	ENST00000357783,p.K632N|uc001edn.3,p.K632N	protein_coding, processed_transcript	uc001edn.3	nonsynonymous SNV	exon15	c.A1896C	p.K632N	TLSIAFICCAQVKVSHLL	TLSIAFICCAQVNVSHLL	5.0	4.0	unscreened	-	4037_1:114246697-114246697 T>G_TLSIAFICCAQVNVSHLL
1:210329226-210329226 T>C	0.0	4037	LUNG	-	-	-	-	SYT14	ENST00000534859,p.F442S	protein_coding, processed_transcript	ENST00000534859	nonsynonymous SNV	exon7	c.T1325C	p.F442S	GRLSAEVIKGSHFKNLAANRPPTFH	GRLSAEVIKGSHSKNLAANRPPTFH	1.0	8.0	unscreened	-	4037_1:210329226-210329226 T>C_GRLSAEVIKGSHSKNLAANRPPTFH
1:210329226-210329226 T>C	0.0	4037	LUNG	-	-	-	-	SYT14	ENST00000472886,p.F442S|ENST00000367015,p.F404S|NM_001256006,p.F404S|NM_153262,p.F442S|uc010pso.3,p.F404S|uc010psn.3,p.F487S|uc009xcv.4,p.F442S|NM_001146264,p.F487S|ENST00000537238,p.F404S	protein_coding, processed_transcript	uc010pso.3	nonsynonymous SNV	exon8	c.T1211C	p.F404S	GRLSAEVIKGSHFKNLAANRPPNTY	GRLSAEVIKGSHSKNLAANRPPNTY	1.0	8.0	unscreened	-	4037_1:210329226-210329226 T>C_GRLSAEVIKGSHSKNLAANRPPNTY
20:44520608-44520608 A>G	0.0	4037	LUNG	-	-	-	-	CTSA	ENST00000191018,p.N83S|uc010zxi.2,p.N101S|NM_001127695,p.N83S|NM_001167594,p.N101S|ENST00000372459,p.N83S|ENST00000354880,p.N101S|uc002xqh.3,p.N101S|ENST00000607482,p.N83S|ENST00000372484,p.N101S|uc002xqj.4,p.N83S|ENST00000606788,p.N101S|NM_000308,p.N101S	retained_intron, protein_coding, processed_transcript	uc010zxi.2	nonsynonymous SNV	exon3	c.A302G	p.N101S	KDPENSPVVLWLNGGPGCSSLDGLL	KDPENSPVVLWLSGGPGCSSLDGLL	10.0	1.0	unscreened	-	4037_20:44520608-44520608 A>G_KDPENSPVVLWLSGGPGCSSLDGLL
21:38072051-38072051 A>C	0.0	4037	LUNG	-	-	-	-	SIM2	uc002yvr.2,p.K2T|ENST00000290399,p.K2T|NM_009586,p.K2T|ENST00000430056,p.K2T|NM_005069,p.K2T|uc002yvq.3,p.K2T|uc002yvp.3,p.K2T	retained_intron, protein_coding, processed_transcript	uc002yvr.2	nonsynonymous SNV	exon1	c.A5C	p.K2T	MKEKSKNAAKTRRE	MTEKSKNAAKTRRE	4.0	8.0	unscreened	-	4037_21:38072051-38072051 A>C_MTEKSKNAAKTRRE
2:168104000-168104000 A>C	0.0	4037	LUNG	-	-	-	-	XIRP2	NM_001199144,p.E1811A|ENST00000295237,p.E2033A|NM_152381,p.E2033A|uc002udy.3,p.E1858A|ENST00000409273,p.E1811A|uc010fpq.3,p.E1811A|ENST00000409195,p.E2033A|uc002udx.3,p.E2033A	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.A5432C	p.E1811A	APKGTVKIVIDREQNNDALEKSLRR	APKGTVKIVIDRAQNNDALEKSLRR	1.0	7.0	unscreened	-	4037_2:168104000-168104000 A>C_APKGTVKIVIDRAQNNDALEKSLRR
9:138439784-138439784 A>C	0.0	4037	LUNG	-	-	-	-	OBP2A	ENST00000340780,p.K115N|ENST00000371776,p.K115N|ENST00000539850,p.K115N|uc004cgc.3,p.K115N|NM_014582,p.K115N|ENST00000471886,p.K115N|NM_001293189,p.K115N|uc004cgb.3,p.K115N	protein_coding, nonsense_mediated_decay	uc004cgc.3	nonsynonymous SNV	exon4	c.A345C	p.K115N	ELPGTDDYVFYCKDQRRGGLRYMGK	ELPGTDDYVFYCNDQRRGGLRYMGK	1.0	1.0	unscreened	-	4037_9:138439784-138439784 A>C_ELPGTDDYVFYCNDQRRGGLRYMGK
5:40691960-40691960 G>A	0.0	4037	LUNG	-	-	ID=COSM1437548;OCCURENCE=1(large_intestine)	-	PTGER4	ENST00000302472,p.R316Q|NM_000958,p.R316Q|uc003jlz.3,p.R316Q	protein_coding, processed_transcript	uc003jlz.3	nonsynonymous SNV	exon3	c.G947A	p.R316Q	REVSKNPDLQAIRIASVNPILDPWI	REVSKNPDLQAIQIASVNPILDPWI	5.0	8.0	unscreened	-	4037_5:40691960-40691960 G>A_REVSKNPDLQAIQIASVNPILDPWI
14:65268084-65268084 A>G	0.0	4037	LUNG	-	-	-	-	SPTB	NM_000347,p.S228P|ENST00000389722,p.S228P|uc001xhu.3,p.S228P|uc001xhr.3,p.S228P|uc001xht.3,p.S228P|ENST00000389720,p.S228P|NM_001024858,p.S228P|ENST00000542895,p.S228P|ENST00000556626,p.S228P|ENST00000389721,p.S228P|uc001xhs.3,p.S228P	retained_intron, protein_coding, processed_transcript	uc001xhu.3	nonsynonymous SNV	exon7	c.T682C	p.S228P	RPDLIDFDKLKDSNARHNLEHAFNV	RPDLIDFDKLKDPNARHNLEHAFNV	1.0	6.0	unscreened	-	4037_14:65268084-65268084 A>G_RPDLIDFDKLKDPNARHNLEHAFNV
4:68698991-68698991 T>G	0.0	4037	LUNG	-	-	-	-	TMPRSS11D	uc011caj.2,p.N91T|uc003hdq.3,p.N208T|NM_004262,p.N208T|ENST00000283916,p.N208T|ENST00000545541,p.N91T	retained_intron, protein_coding, processed_transcript	uc011caj.2	nonsynonymous SNV	exon6	c.A272C	p.N91T	GSWPWQVSLRLNNAHHCGGSLINNM	GSWPWQVSLRLNTAHHCGGSLINNM	1.0	6.0	unscreened	-	4037_4:68698991-68698991 T>G_GSWPWQVSLRLNTAHHCGGSLINNM
14:92537353-92537353 ->GCTGCTGCTGCTGCTGCT	0.0	4037	LUNG	-	-	-	-	ATXN3	uc021rzj.1,p.G23delinsGAAAAAA|NM_001164782,p.G23delinsGAAAAAA|uc021rzd.1,p.G93delinsGAAAAAA|NM_001164777,p.G38delinsGAAAAAA|uc021rzi.1,p.G78delinsGAAAAAA|NM_001164778,p.G144delinsGAAAAAA|NM_001164774,p.G78delinsGAAAAAA|uc021rza.1,p.G144delinsGAAAAAA|uc021rzf.1,p.G38delinsGAAAAAA|NM_001164776,p.G93delinsGAAAAAA	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021rzj.1	nonframeshift insertion	exon2	c.68_69insAGCAGCAGCAGCAGCAGC	p.G23delinsGAAAAAA	AKAATAAAAAAAGGPIRTEFTSM	AKAATAAAAAAAGAAAAAAGPIRTE	7.0	7.0	unscreened	-	4037_14:92537353-92537353 ->GCTGCTGCTGCTGCTGCT_AKAATAAAAAAAGAAAAAAGPIRTE
11:57958500-57958500 G>T	0.0	4037	LUNG	-	-	-	-	OR9Q2	uc010rka.2,p.D180Y|NM_001005283,p.D180Y|ENST00000311591,p.D180Y	protein_coding	uc010rka.2	nonsynonymous SNV	exon1	c.G538T	p.D180Y	FCGNNEINFIFCDLPPLLKLSCGDS	FCGNNEINFIFCYLPPLLKLSCGDS	1.0	4.0	unscreened	-	4037_11:57958500-57958500 G>T_FCGNNEINFIFCYLPPLLKLSCGDS
16:31488668-31488668 A>G	0.0	4037	LUNG	-	-	-	-	TGFB1I1	ENST00000394858,p.E369G|NM_001042454,p.E386G|uc002ecd.2,p.E386G|uc002ece.2,p.E369G|uc021tgx.1,p.E369G|NM_001164719,p.E369G|ENST00000394863,p.E386G|ENST00000567607,p.E369G|ENST00000361773,p.E369G|NM_015927,p.E369G	retained_intron, protein_coding, nonsense_mediated_decay	uc021tgx.1	nonsynonymous SNV	exon11	c.A1106G	p.E369G	ECFAPFSGGSFFEHEGRPLCENHFH	ECFAPFSGGSFFGHEGRPLCENHFH	6.0	9.0	unscreened	-	4037_16:31488668-31488668 A>G_ECFAPFSGGSFFGHEGRPLCENHFH
7:48314763-48314763 C>A	0.0	4037	LUNG	-	-	-	-	ABCA13	NM_152701,p.Q1834K|uc022acp.1,p.Q333K|ENST00000435803,p.Q1834K|uc010kyr.2,p.Q1337K|uc003toq.2,p.Q1834K	retained_intron, protein_coding, nonsense_mediated_decay	uc022acp.1	nonsynonymous SNV	exon1	c.C997A	p.Q333K	VWCWNHTNSGFRQNSKIDPCNVHGL	VWCWNHTNSGFRKNSKIDPCNVHGL	1.0	8.0	unscreened	-	4037_7:48314763-48314763 C>A_VWCWNHTNSGFRKNSKIDPCNVHGL
12:57963395-57963395 A>T	0.0	4037	LUNG	-	-	-	-	KIF5A	uc001sor.1,p.E349V|uc010srr.1,p.E260V|NM_004984,p.E349V|ENST00000286452,p.E260V|ENST00000455537,p.E349V	retained_intron, protein_coding	uc010srr.1	nonsynonymous SNV	exon8	c.A779T	p.E260V	LTAEQWKKKYEKEKEKTKAQKETIA	LTAEQWKKKYEKVKEKTKAQKETIA	1.0	6.0	unscreened	-	4037_12:57963395-57963395 A>T_LTAEQWKKKYEKVKEKTKAQKETIA
4:158041715-158041715 T>C	0.0	4037	LUNG	-	-	-	-	GLRB	uc021xtq.1,p.S44P|uc003ipj.2,p.S44P|NM_001166060,p.S44P|ENST00000264428,p.S44P|NM_001166061,p.S44P|uc021xtp.1,p.S44P|NM_000824,p.S44P|ENST00000541722,p.S44P|ENST00000509282,p.S44P	retained_intron, protein_coding, nonsense_mediated_decay	uc021xtq.1	nonsynonymous SNV	exon3	c.T130C	p.S44P	GKKKQYLCPSQQSAEDLARVPANST	GKKKQYLCPSQQPAEDLARVPANST	3.0	5.0	unscreened	-	4037_4:158041715-158041715 T>C_GKKKQYLCPSQQPAEDLARVPANST
12:29648381-29648381 C>-	0.0	4037	LUNG	-	-	-	-	OVCH1	ENST00000318184,p.L97fs|uc001rix.1,p.L97fs|NM_183378,p.L97fs	protein_coding, nonsense_mediated_decay	uc001rix.1	frameshift deletion	exon4	c.291delG	p.L97fs	AAHCLDSLSEKQLKNITVTSGEYSL	AAHCLDSLSEKQLRI	1.0	1.0	unscreened	-	4037_12:29648381-29648381 C>-_AAHCLDSLSEKQLRI
8:142490457-142490457 T>C	0.0	4037	LUNG	-	-	-	-	MROH5	uc003ywi.2,p.E281G	protein_coding, polymorphic_pseudogene, nonsense_mediated_decay	uc003ywi.2	nonsynonymous SNV	exon7	c.A842G	p.E281G	LWTLTTPSWTQQEQSPEKAFLFTYY	LWTLTTPSWTQQGQSPEKAFLFTYY	1.0	1.0	unscreened	-	4037_8:142490457-142490457 T>C_LWTLTTPSWTQQGQSPEKAFLFTYY
15:43748349-43748357 TCCTTCATA>-	1.0	4037	LUNG	-	-	-	-	TP53BP1	NM_001141979,p.817_819del|uc010udp.2,p.812_814del|uc001zrr.4,p.817_819del|ENST00000382039,p.817_819del|uc001zrs.3,p.812_814del|ENST00000382044,p.817_819del|uc001zrq.4,p.817_819del|NM_005657,p.812_814del|ENST00000450115,p.817_819del|ENST00000263801,p.812_814del|uc010udq.1,p.817_819del|NM_001141980,p.817_819del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010udq.1	nonframeshift deletion	exon12	c.2449_2457del	p.817_819del	NRLDTKEEKSVEYEGDLKSGTAETE	NRLDTKEEKSVEDLKSGTAETEPVE	6.0	10.0	unscreened	-	4037_15:43748349-43748357 TCCTTCATA>-_NRLDTKEEKSVEDLKSGTAETEPVE
1:99203929-99203929 T>A	0.0	4037	LUNG	-	-	-	-	SNX7	uc010oud.2,p.I366N|ENST00000529992,p.I366N|NM_015976,p.I421N|uc010ouc.2,p.I421N|NM_152238,p.I366N|ENST00000306121,p.I421N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010oud.2	nonsynonymous SNV	exon7	c.T1097A	p.I366N	IKLAFTDMAEENIHYYEQCLATWES	IKLAFTDMAEENNHYYEQCLATWES	4.0	9.0	unscreened	-	4037_1:99203929-99203929 T>A_IKLAFTDMAEENNHYYEQCLATWES
4:79420956-79420956 A>C	0.0	4037	LUNG	-	-	-	-	FRAS1	uc003hlb.2,p.K3066T|NM_025074,p.K3066T|ENST00000264895,p.K3066T|uc003hlc.1,p.K68T	retained_intron, protein_coding, nonsense_mediated_decay	uc003hlc.1	nonsynonymous SNV	exon2	c.A203C	p.K68T	PAGPDAIAILNIKVIRRGDQNRTSK	PAGPDAIAILNITVIRRGDQNRTSK	2.0	6.0	unscreened	-	4037_4:79420956-79420956 A>C_PAGPDAIAILNITVIRRGDQNRTSK
5:150900849-150900849 A>C	0.0	4037	LUNG	-	-	-	-	FAT2	uc003lud.4,p.C462G|ENST00000261800,p.C3769G|NM_001447,p.C3769G|uc003lue.4,p.C3769G	protein_coding	uc003lue.4	nonsynonymous SNV	exon18	c.T11305G	p.C3769G	SILTPRHHLQRSCSCNGTATRFSGQ	SILTPRHHLQRSGSCNGTATRFSGQ	3.0	6.0	unscreened	-	4037_5:150900849-150900849 A>C_SILTPRHHLQRSGSCNGTATRFSGQ
3:124390744-124390744 A>C	0.0	4037	LUNG	-	-	-	-	KALRN	uc003ehk.3,p.K616T|ENST00000360013,p.K2313T|ENST00000291478,p.K616T|uc003ehg.3,p.K2313T|NM_001024660,p.K2313T|NM_007064,p.K616T|ENST00000428018,p.K584T	retained_intron, protein_coding, processed_transcript	uc003ehk.3	nonsynonymous SNV	exon15	c.A1847C	p.K616T	EYHQPGDKFEASKQNDLGGCNGTSS	EYHQPGDKFEASTQNDLGGCNGTSS	5.0	1.0	unscreened	-	4037_3:124390744-124390744 A>C_EYHQPGDKFEASTQNDLGGCNGTSS
9:136081762-136081762 T>C	0.0	4037	LUNG	-	-	-	-	OBP2B	uc004ccz.3,p.K144E|NM_014581,p.K144E|ENST00000372034,p.K144E|uc011mcy.2,p.K76E|NM_001288987,p.K144E	protein_coding, processed_transcript, nonsense_mediated_decay	uc011mcy.2	nonsynonymous SNV	exon4	c.A226G	p.K76E	NSDTNREALEEFKKLVQRKGLSEED	NSDTNREALEEFEKLVQRKGLSEED	7.0	3.0	unscreened	-	4037_9:136081762-136081762 T>C_NSDTNREALEEFEKLVQRKGLSEED
11:1093418-1093418 C>A	0.0	4037	LUNG	-	-	-	-	MUC2	ENST00000359061,p.P1713H|ENST00000333592,p.P34H|ENST00000441003,p.P1746H	protein_coding	ENST00000441003	nonsynonymous SNV	exon30	c.C5237A	p.P1746H	PTPTGTQTPTTTPITTTTTVTPTPT	PTPTGTQTPTTTHITTTTTVTPTPT	1.0	8.0	unscreened	-	4037_11:1093418-1093418 C>A_PTPTGTQTPTTTHITTTTTVTPTPT
8:11188956-11188956 G>A	0.0	4037	LUNG	-	-	-	-	SLC35G5	uc003wtp.1,p.S114N|NM_054028,p.S114N|ENST00000382435,p.S114N	protein_coding	uc003wtp.1	nonsynonymous SNV	exon1	c.G341A	p.S114N	GWACFCALLNVLSIGCAYSAVQVVP	GWACFCALLNVLNIGCAYSAVQVVP	1.0	1.0	unscreened	-	4037_8:11188956-11188956 G>A_GWACFCALLNVLNIGCAYSAVQVVP
3:138121038-138121038 A>G	0.0	4037	LUNG	-	-	-	-	MRAS	NM_001252093,p.K109R|NM_001252091,p.K109R|ENST00000423968,p.K185R|NM_001252092,p.K109R|uc011bmi.2,p.K109R|uc003esh.4,p.K185R|ENST00000464896,p.K109R|ENST00000474559,p.K185R|uc003esi.4,p.K185R|NM_012219,p.K185R|uc011bmj.2,p.K109R|ENST00000289104,p.K185R|uc021xeq.1,p.K185R|NM_001252090,p.K185R|uc021xep.1,p.K109R|NM_001085049,p.K185R	retained_intron, protein_coding, processed_transcript	uc021xeq.1	nonsynonymous SNV	exon6	c.A554G	p.K185R	RVIRQQIPEKSQKKKKKTKWRGDRA	RVIRQQIPEKSQRKKKKTKWRGDRA	7.0	5.0	unscreened	-	4037_3:138121038-138121038 A>G_RVIRQQIPEKSQRKKKKTKWRGDRA
3:25542731-25542731 A>C	0.0	4037	LUNG	-	-	-	-	RARB	NM_001290266,p.N73T|ENST00000383772,p.N129T|NM_001290300,p.N79T|uc003cdh.3,p.N122T|NM_000965,p.N122T|ENST00000404969,p.N129T|NM_001290277,p.N122T|NM_001290216,p.N129T|uc011awl.2,p.N129T|ENST00000330688,p.N122T	protein_coding, processed_transcript	uc011awl.2	nonsynonymous SNV	exon3	c.A386C	p.N129T	QKNMIYTCHRDKNCVINKVTRNRCQ	QKNMIYTCHRDKTCVINKVTRNRCQ	5.0	7.0	unscreened	-	4037_3:25542731-25542731 A>C_QKNMIYTCHRDKTCVINKVTRNRCQ
3:124281715-124281715 T>C	0.0	4037	LUNG	-	-	-	-	KALRN	ENST00000393496,p.V25A|uc003ehi.3,p.V25A	retained_intron, protein_coding, processed_transcript	uc003ehi.3	nonsynonymous SNV	exon2	c.T74C	p.V25A	NKAQLSGGCELTVVLQDFSAGHSSE	NKAQLSGGCELTAVLQDFSAGHSSE	5.0	9.0	unscreened	-	4037_3:124281715-124281715 T>C_NKAQLSGGCELTAVLQDFSAGHSSE
3:124281715-124281715 T>C	0.0	4037	LUNG	-	-	-	-	KALRN	uc003ehg.3,p.V1652A|ENST00000360013,p.V1652A|NM_001024660,p.V1652A	retained_intron, protein_coding, processed_transcript	uc003ehg.3	nonsynonymous SNV	exon34	c.T4955C	p.V1652A	DSDKLSGGCELTVVLQDFSAGHSSE	DSDKLSGGCELTAVLQDFSAGHSSE	5.0	9.0	unscreened	-	4037_3:124281715-124281715 T>C_DSDKLSGGCELTAVLQDFSAGHSSE
1:42620367-42620367 T>C	0.0	4037	LUNG	-	-	-	-	GUCA2B	uc001chc.1,p.V36A|NM_007102,p.V36A|ENST00000372581,p.V36A	protein_coding	uc001chc.1	nonsynonymous SNV	exon2	c.T107C	p.V36A	TQSVYIQYQGFRVQLESMKKLSDLE	TQSVYIQYQGFRAQLESMKKLSDLE	1.0	7.0	unscreened	-	4037_1:42620367-42620367 T>C_TQSVYIQYQGFRAQLESMKKLSDLE
2:103040824-103040824 A>G	0.0	4037	LUNG	-	-	-	-	IL18RAP	uc002tbx.3,p.S177G|ENST00000409369,p.S35G|ENST00000264260,p.S177G|uc010fiz.3,p.S35G|NM_003853,p.S177G	retained_intron, protein_coding	uc010fiz.3	nonsynonymous SNV	exon3	c.A103G	p.S35G	LLLGSTGSISCPSLSCQSDAQSPAV	LLLGSTGSISCPGLSCQSDAQSPAV	3.0	1.0	unscreened	-	4037_2:103040824-103040824 A>G_LLLGSTGSISCPGLSCQSDAQSPAV
19:12256354-12256354 G>C	0.0	4037	LUNG	-	-	-	-	ZNF625	uc002mth.3,p.H227D|uc010dyo.2,p.H293D|ENST00000542938,p.H227D|ENST00000355738,p.H227D|ENST00000439556,p.H293D|NM_145233,p.H293D	protein_coding	uc010dyo.2	nonsynonymous SNV	exon4	c.C877G	p.H293D	GKAFVSFNSVRYHERTHTGEKPYEC	GKAFVSFNSVRYDERTHTGEKPYEC	3.0	8.0	unscreened	-	4037_19:12256354-12256354 G>C_GKAFVSFNSVRYDERTHTGEKPYEC
4:17710924-17710924 A>C	0.0	4037	LUNG	-	-	-	-	FAM184B	NM_015688,p.L162R|uc003gpm.4,p.L162R|ENST00000265018,p.L162R	protein_coding	uc003gpm.4	nonsynonymous SNV	exon2	c.T485G	p.L162R	EMLELKADYERRLQHLTSHEATPQG	EMLELKADYERRRQHLTSHEATPQG	1.0	9.0	unscreened	-	4037_4:17710924-17710924 A>C_EMLELKADYERRRQHLTSHEATPQG
15:91292718-91292718 A>G	0.0	4037	LUNG	-	-	-	1	BLM	ENST00000355112,p.S74G|uc010uqh.2,p.S74G|ENST00000559724,p.S74G|NM_001287246,p.S74G|uc010bnx.3,p.S74G|ENST00000560509,p.S74G|uc002bpr.3,p.S74G|NM_001287247,p.S74G|NM_000057,p.S74G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uqh.2	nonsynonymous SNV	exon4	c.A220G	p.S74G	NKDVNVTEDFSFSEPLPNTTNQQRV	NKDVNVTEDFSFGEPLPNTTNQQRV	5.0	1.0	unscreened	-	4037_15:91292718-91292718 A>G_NKDVNVTEDFSFGEPLPNTTNQQRV
1:67861621-67861622 CA>-	0.0	4037	LUNG	-	-	-	-	IL12RB2	uc001ddu.3,p.A813fs|uc010oql.3,p.A727fs|NM_001559,p.A813fs|ENST00000262345,p.A813fs|ENST00000544434,p.A727fs|NM_001258215,p.A727fs	protein_coding, processed_transcript	uc010oql.3	frameshift deletion	exon14	c.2180_2181del	p.A727fs	LPSNIDDLPSHEAPLADSLEELEPQ	LPSNIDDLPSHEASR	3.0	1.0	unscreened	-	4037_1:67861621-67861622 CA>-_LPSNIDDLPSHEASR
11:73021506-73021506 A>G	0.0	4037	LUNG	-	-	-	-	ARHGEF17	NM_014786,p.Q608R|ENST00000263674,p.Q608R|uc001otu.3,p.Q608R	retained_intron, protein_coding, processed_transcript	uc001otu.3	nonsynonymous SNV	exon1	c.A1823G	p.Q608R	RQVFEKIQRMGAQQDDGSDAPPGSP	RQVFEKIQRMGARQDDGSDAPPGSP	8.0	8.0	unscreened	-	4037_11:73021506-73021506 A>G_RQVFEKIQRMGARQDDGSDAPPGSP
2:69177877-69177877 A>T	0.0	4037	LUNG	-	-	-	-	GKN2	ENST00000328895,p.L8Q|ENST00000481498,p.L8Q|uc002sfb.4,p.L8Q|uc002sfa.3,p.L8Q|NM_182536,p.L8Q	protein_coding	uc002sfb.4	nonsynonymous SNV	exon2	c.T23A	p.L8Q	MKILVAFLVVLTIFGIQSHG	MKILVAFQVVLTIFGIQSHG	1.0	4.0	unscreened	-	4037_2:69177877-69177877 A>T_MKILVAFQVVLTIFGIQSHG
19:37382944-37382944 T>C	0.0	4037	LUNG	-	-	-	-	ZNF829	ENST00000391711,p.K250R|uc021utr.1,p.K331R|NM_001037232,p.K250R|uc002ofa.2,p.K250R|ENST00000520965,p.K331R|NM_001171979,p.K331R	retained_intron, protein_coding	uc021utr.1	nonsynonymous SNV	exon6	c.A992G	p.K331R	KPYECKECGKAFKYCSNLNDHQRIH	KPYECKECGKAFRYCSNLNDHQRIH	3.0	5.0	unscreened	-	4037_19:37382944-37382944 T>C_KPYECKECGKAFRYCSNLNDHQRIH
2:138169342-138169342 A>C	0.0	4037	LUNG	-	-	-	-	THSD7B	uc002tva.1,p.Q922H|ENST00000272643,p.Q953H|ENST00000409968,p.Q953H|uc002tvb.3,p.Q812H|ENST00000413152,p.Q922H	retained_intron, protein_coding, processed_transcript	uc002tvb.3	nonsynonymous SNV	exon12	c.A2436C	p.Q812H	EGRREPHRGLRVQADSKECGEGLRF	EGRREPHRGLRVHADSKECGEGLRF	1.0	6.0	unscreened	-	4037_2:138169342-138169342 A>C_EGRREPHRGLRVHADSKECGEGLRF
16:57397435-57397435 A>G	1.0	4037	LUNG	-	-	-	-	CCL22	uc002elh.3,p.K73E|ENST00000219235,p.K73E|NM_002990,p.K73E	protein_coding	uc002elh.3	nonsynonymous SNV	exon3	c.A217G	p.K73E	PRPGVVLLTFRDKEICADPRVPWVK	PRPGVVLLTFRDEEICADPRVPWVK	7.0	9.0	unscreened	-	4037_16:57397435-57397435 A>G_PRPGVVLLTFRDEEICADPRVPWVK
2:179451934-179451934 T>C	0.0	4037	LUNG	-	-	-	-	TTN	NM_133432,p.E12395G|uc021vta.2,p.E12395G|uc021vsy.2,p.E18767G|NM_003319,p.E12270G|uc021vsz.2,p.E12462G|uc031rqd.1,p.E19694G|NM_001256850,p.E19694G|ENST00000342992,p.E18767G|NM_133437,p.E12462G|NM_001267550,p.E21335G|ENST00000359218,p.E12395G|ENST00000591111,p.E19694G|ENST00000589042,p.E21335G|ENST00000342175,p.E12462G|uc031rqc.1,p.E21335G|uc021vtb.2,p.E12270G|NM_133378,p.E18767G|ENST00000460472,p.E12270G	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon257	c.A59081G	p.E19694G	TSFHVTNLVPGNEYYFRVTAVNEYG	TSFHVTNLVPGNGYYFRVTAVNEYG	3.0	7.0	unscreened	-	4037_2:179451934-179451934 T>C_TSFHVTNLVPGNGYYFRVTAVNEYG
1:84403546-84403546 T>C	1.0	4037	LUNG	-	-	-	-	TTLL7	ENST00000260505,p.S293G|ENST00000485638,p.S177G|uc001djc.3,p.S293G|NM_024686,p.S293G|ENST00000480174,p.S293G	protein_coding, processed_transcript, nonsense_mediated_decay	uc001djc.3	nonsynonymous SNV	exon8	c.A877G	p.S293G	LQANQHDVAKFWSDISELVVKTLIV	LQANQHDVAKFWGDISELVVKTLIV	4.0	3.0	unscreened	-	4037_1:84403546-84403546 T>C_LQANQHDVAKFWGDISELVVKTLIV
19:8167725-8167725 T>C	0.0	4037	LUNG	-	-	-	-	FBN3	NM_032447,p.N1658D|ENST00000270509,p.N1658D|ENST00000601739,p.N1658D|uc002mjf.3,p.N1658D|ENST00000600128,p.N1658D	retained_intron, protein_coding	uc002mjf.3	nonsynonymous SNV	exon39	c.A4972G	p.N1658D	MDMRKSVCFRHYNGTCQNELAFNVT	MDMRKSVCFRHYDGTCQNELAFNVT	1.0	9.0	unscreened	-	4037_19:8167725-8167725 T>C_MDMRKSVCFRHYDGTCQNELAFNVT
1:113253909-113253909 C>T	0.0	4037	LUNG	-	-	-	-	PPM1J	ENST00000359994,p.R136Q|NM_005167,p.R342Q|uc001ecs.1,p.R136Q|ENST00000309276,p.R342Q|ENST00000464951,p.R136Q|uc001ect.1,p.R342Q	 processed_transcript,protein_coding	uc001ect.1	nonsynonymous SNV	exon6	c.G1025A	p.R342Q	VLPKELGQRMLYRDQNMTGWAYKKI	VLPKELGQRMLYQDQNMTGWAYKKI	3.0	8.0	unscreened	-	4037_1:113253909-113253909 C>T_VLPKELGQRMLYQDQNMTGWAYKKI
7:144094616-144094616 T>C	0.0	4037	LUNG	-	-	-	-	NOBOX	NM_001080413,p.D598G|ENST00000467773,p.D598G|ENST00000483238,p.D566G|uc022aoj.1,p.D598G|ENST00000223140,p.D481G	protein_coding	uc022aoj.1	nonsynonymous SNV	exon10	c.A1793G	p.D598G	PPAGNIGTASWSDPCLPELPFPGPF	PPAGNIGTASWSGPCLPELPFPGPF	1.0	9.0	unscreened	-	4037_7:144094616-144094616 T>C_PPAGNIGTASWSGPCLPELPFPGPF
1:156593886-156593886 C>T	0.0	4037	LUNG	-	-	-	-	HAPLN2	ENST00000456112,p.R125W|ENST00000255039,p.R125W|uc001fpn.1,p.R125W|uc010phq.1,p.R125W|NM_021817,p.R125W	protein_coding, processed_transcript	uc010phq.1	nonsynonymous SNV	exon3	c.C373T	p.R125W	LVIAGVRLEDEGRYRCELINGIEDE	LVIAGVRLEDEGWYRCELINGIEDE	1.0	2.0	unscreened	-	4037_1:156593886-156593886 C>T_LVIAGVRLEDEGWYRCELINGIEDE
18:2796082-2796082 T>A	1.0	4037	LUNG	-	-	-	-	SMCHD1	NM_015295,p.L1952H|uc002klm.4,p.L1952H|ENST00000320876,p.L1952H	retained_intron, protein_coding, nonsense_mediated_decay	uc002klm.4	nonsynonymous SNV	exon46	c.T5855A	p.L1952H	KKKQELDEHEKNLKLIEEKLGMTPI	KKKQELDEHEKNHKLIEEKLGMTPI	7.0	2.0	unscreened	-	4037_18:2796082-2796082 T>A_KKKQELDEHEKNHKLIEEKLGMTPI
17:16326930-16326930 A>C	0.0	4037	LUNG	-	-	-	-	TRPV2	uc002gpy.3,p.N258T|ENST00000338560,p.N258T|NM_016113,p.N258T	retained_intron, protein_coding, processed_transcript	uc002gpy.3	nonsynonymous SNV	exon5	c.A773C	p.N258T	NTVLHALVMISDNSAENIALVTSMY	NTVLHALVMISDTSAENIALVTSMY	4.0	5.0	unscreened	-	4037_17:16326930-16326930 A>C_NTVLHALVMISDTSAENIALVTSMY
1:55167764-55167764 C>A	0.0	4037	LUNG	-	-	-	-	MROH7	uc009vzr.1,p.A298E|ENST00000454855,p.A614E|ENST00000414150,p.A1096E|uc010ood.1,p.A614E|ENST00000409996,p.A664E|uc010ooe.1,p.A1096E|NM_001039464,p.A1096E|ENST00000421030,p.A1096E|NM_001291332,p.A614E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ooe.1	nonsynonymous SNV	exon20	c.C3287A	p.A1096E	EMLQILLPHFSDAREVVRSSCINLY	EMLQILLPHFSDEREVVRSSCINLY	2.0	3.0	unscreened	-	4037_1:55167764-55167764 C>A_EMLQILLPHFSDEREVVRSSCINLY
20:46264343-46264343 A>G	1.0	4037	LUNG	-	-	-	-	NCOA3	ENST00000371997,p.S474G|NM_181659,p.S464G|NM_006534,p.S464G|uc010zyc.2,p.S259G|uc010ght.2,p.S474G|uc002xtl.3,p.S464G|uc002xtn.3,p.S464G|NM_001174088,p.S474G|uc002xtk.3,p.S464G|ENST00000372004,p.S464G|uc002xtm.3,p.S464G|NM_001174087,p.S464G|ENST00000371998,p.S464G|ENST00000341724,p.S474G	protein_coding, processed_transcript	uc010zyc.2	nonsynonymous SNV	exon6	c.A775G	p.S259G	SSYQNNNYGLNMSSPPHGSPGLAPN	SSYQNNNYGLNMGSPPHGSPGLAPN	8.0	3.0	unscreened	-	4037_20:46264343-46264343 A>G_SSYQNNNYGLNMGSPPHGSPGLAPN
5:150947381-150947381 A>C	0.0	4037	LUNG	-	-	-	-	FAT2	uc010jhx.1,p.L371R|uc003lue.4,p.L371R|ENST00000261800,p.L371R|NM_001447,p.L371R	protein_coding	uc010jhx.1	nonsynonymous SNV	exon1	c.T1112G	p.L371R	SLKFEKAVYRVQLSEFSPPGSRVVM	SLKFEKAVYRVQRSEFSPPGSRVVM	3.0	8.0	unscreened	-	4037_5:150947381-150947381 A>C_SLKFEKAVYRVQRSEFSPPGSRVVM
1:53546490-53546490 A>G	0.0	4037	LUNG	-	-	-	-	PODN	NM_001199082,p.S441G|NM_153703,p.S583G|NM_001199081,p.S564G|ENST00000395871,p.S441G|ENST00000312553,p.S583G|uc001cuw.3,p.S564G|NM_001199080,p.S564G|uc010ons.2,p.S441G|ENST00000371500,p.S564G|uc010onr.2,p.S564G|uc001cuv.3,p.S583G	protein_coding, processed_transcript	uc010ons.2	nonsynonymous SNV	exon5	c.A1321G	p.S441G	SLEYLYLQNNKISAVPANAFDSTPN	SLEYLYLQNNKIGAVPANAFDSTPN	6.0	5.0	unscreened	-	4037_1:53546490-53546490 A>G_SLEYLYLQNNKIGAVPANAFDSTPN
11:116692047-116692047 A>C	0.0	4037	LUNG	-	-	-	-	APOA4	NM_000482,p.F243V|ENST00000357780,p.F243V|uc001pps.1,p.F243V	protein_coding	uc001pps.1	nonsynonymous SNV	exon3	c.T727G	p.F243V	QEKLNHQLEGLTFQMKKNAEELKAR	QEKLNHQLEGLTVQMKKNAEELKAR	1.0	2.0	unscreened	-	4037_11:116692047-116692047 A>C_QEKLNHQLEGLTVQMKKNAEELKAR
10:63977976-63977976 A>G	0.0	4037	LUNG	-	-	-	-	RTKN2	uc009xpf.1,p.F70S|uc001jlw.3,p.F289S|ENST00000395265,p.F289S|NM_145307,p.F289S|ENST00000373789,p.F289S|ENST00000315289,p.F70S	protein_coding	uc009xpf.1	nonsynonymous SNV	exon3	c.T209C	p.F70S	LVAQPACMAEDAFAGFLNQQQMVEG	LVAQPACMAEDASAGFLNQQQMVEG	5.0	3.0	unscreened	-	4037_10:63977976-63977976 A>G_LVAQPACMAEDASAGFLNQQQMVEG
19:44514816-44514816 T>G	1.0	4037	LUNG	-	-	-	-	ZNF230	NM_006300,p.S209A|ENST00000429154,p.S209A|uc002oyb.1,p.S209A	retained_intron, protein_coding, nonsense_mediated_decay	uc002oyb.1	nonsynonymous SNV	exon5	c.T625G	p.S209A	KCDMRGKEFSQSSCLQTRERVHTGE	KCDMRGKEFSQSACLQTRERVHTGE	4.0	8.0	unscreened	-	4037_19:44514816-44514816 T>G_KCDMRGKEFSQSACLQTRERVHTGE
18:2750075-2750075 A>G	1.0	4037	LUNG	-	-	-	-	SMCHD1	ENST00000320876,p.E1321G|NM_015295,p.E1321G|uc002klm.4,p.E1321G|ENST00000261598,p.E1321G|ENST00000577880,p.E792G	retained_intron, protein_coding, nonsense_mediated_decay	uc002klm.4	nonsynonymous SNV	exon31	c.A3962G	p.E1321G	KLMPSNQQHKTDEKGRANLGVFSVF	KLMPSNQQHKTDGKGRANLGVFSVF	7.0	7.0	-	-	4037_18:2750075-2750075 A>G_KLMPSNQQHKTDGKGRANLGVFSVF
20:60791399-60791399 T>C	0.0	4037	LUNG	-	-	-	-	HRH3	uc002yci.3,p.E334G|uc002ycf.2,p.E334G|NM_007232,p.E334G|ENST00000340177,p.E334G|ENST00000317393,p.E334G	protein_coding	uc002yci.3	nonsynonymous SNV	exon3	c.A1001G	p.E334G	RGSKPSASSASLEKRMKMVSQSFTQ	RGSKPSASSASLGKRMKMVSQSFTQ	1.0	2.0	unscreened	-	4037_20:60791399-60791399 T>C_RGSKPSASSASLGKRMKMVSQSFTQ
3:180324382-180324384 GAG>-	0.0	4037	LUNG	-	-	-	-	TTC14	NM_133462,p.388_389del|ENST00000470669,p.388_389del|uc003fkm.2,p.388_389del|NM_001042601,p.388_389del|uc003fkl.3,p.388_389del|ENST00000382584,p.388_389del|ENST00000296015,p.388_389del|NM_001288582,p.388_389del|ENST00000412756,p.388_389del|uc003fkk.3,p.388_389del	protein_coding, processed_transcript, nonsense_mediated_decay	uc003fkm.2	nonframeshift deletion	exon9	c.1163_1165del	p.388_389del	NARKYLCQTLVERGGQLEEEEKFLN	NARKYLCQTLVERGQLEEEEKFLNA	7.0	8.0	unscreened	-	4037_3:180324382-180324384 GAG>-_NARKYLCQTLVERGQLEEEEKFLNA
2:179598220-179598220 G>T	0.0	4037	LUNG	-	-	-	-	TTN	ENST00000342992,p.A4023E|uc002umz.1,p.A684E|uc021vsy.2,p.A4023E|NM_001267550,p.A5267E|ENST00000591111,p.A4950E|uc031rqc.1,p.A5267E|NM_001256850,p.A4950E|ENST00000589042,p.A5267E|NM_133378,p.A4023E|uc031rqd.1,p.A4950E	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon52	c.C14849A	p.A4950E	LIVKEPAKIIERAELIQVTAGDPAT	LIVKEPAKIIEREELIQVTAGDPAT	3.0	3.0	unscreened	-	4037_2:179598220-179598220 G>T_LIVKEPAKIIEREELIQVTAGDPAT
1:182025741-182025741 T>C	0.0	4037	LUNG	-	-	-	-	ZNF648	NM_001009992,p.I469V|uc021pfu.1,p.I469V|ENST00000339948,p.I469V|uc001goz.3,p.I469V	protein_coding	uc021pfu.1	nonsynonymous SNV	exon1	c.A1405G	p.I469V	FAQPSRLVRHQRIHTGERPFPCTQC	FAQPSRLVRHQRVHTGERPFPCTQC	1.0	6.0	unscreened	-	4037_1:182025741-182025741 T>C_FAQPSRLVRHQRVHTGERPFPCTQC
17:51901928-51901928 T>C	0.0	4037	LUNG	-	-	-	-	KIF2B	ENST00000268919,p.S512P|NM_032559,p.S512P|uc002iua.2,p.S512P	protein_coding	uc002iua.2	nonsynonymous SNV	exon1	c.T1534C	p.S512P	TLVLRDSFIGQNSSTCMIATISPGM	TLVLRDSFIGQNPSTCMIATISPGM	1.0	4.0	unscreened	-	4037_17:51901928-51901928 T>C_TLVLRDSFIGQNPSTCMIATISPGM
17:7077756-7077756 C>A	0.0	4037	LUNG	-	-	-	-	ASGR1	ENST00000380920,p.V26L|uc021toy.1,p.V88L|uc010clx.1,p.V26L|ENST00000269299,p.V127L|ENST00000574388,p.V88L|uc002ges.4,p.V127L|NM_001671,p.V127L|NM_001197216,p.V88L	retained_intron, protein_coding	uc021toy.1	nonsynonymous SNV	exon5	c.G262T	p.V88L	DLSEDHSSLLLHVKQFVSDLRSLSC	DLSEDHSSLLLHLKQFVSDLRSLSC	3.0	8.0	unscreened	-	4037_17:7077756-7077756 C>A_DLSEDHSSLLLHLKQFVSDLRSLSC
X:70824473-70824473 T>A	0.0	4037	LUNG	-	-	-	-	ACRC	NM_052957,p.V449E|ENST00000373695,p.V449E|ENST00000373696,p.V449E|uc004eae.2,p.V449E	protein_coding, processed_transcript	uc004eae.2	nonsynonymous SNV	exon8	c.T1346A	p.V449E	PPRKRQTKTKNIVEPLRKRKAKTKN	PPRKRQTKTKNIEEPLRKRKAKTKN	4.0	6.0	unscreened	-	4037_X:70824473-70824473 T>A_PPRKRQTKTKNIEEPLRKRKAKTKN
1:206239458-206239458 T>C	0.0	4037	LUNG	-	-	-	-	C1orf186	uc001hdt.2,p.E147G|NM_001007544,p.E147G|ENST00000331555,p.E147G	protein_coding, processed_transcript	uc001hdt.2	nonsynonymous SNV	exon6	c.A440G	p.E147G	IKEITDYVNVNPERHKPSFWYFVNP	IKEITDYVNVNPGRHKPSFWYFVNP	3.0	6.0	unscreened	-	4037_1:206239458-206239458 T>C_IKEITDYVNVNPGRHKPSFWYFVNP
8:53076567-53076567 T>C	0.0	4037	LUNG	-	-	-	-	ST18	uc011lds.1,p.Q365R|uc003xqz.2,p.Q460R|uc003xra.2,p.Q460R|uc003xrb.2,p.Q460R|ENST00000276480,p.Q460R|NM_014682,p.Q460R|uc011ldr.1,p.Q425R|ENST00000517580,p.Q460R|uc011ldq.1,p.Q107R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lds.1	nonsynonymous SNV	exon8	c.A1094G	p.Q365R	QDKNQLDSPQTGQCPDQAHRTSLVK	QDKNQLDSPQTGRCPDQAHRTSLVK	2.0	9.0	unscreened	-	4037_8:53076567-53076567 T>C_QDKNQLDSPQTGRCPDQAHRTSLVK
3:124390744-124390744 A>C	0.0	4037	LUNG	-	-	-	-	KALRN	ENST00000459915,p.K405T|uc011bjz.2,p.K405T|ENST00000393496,p.K654T|uc003ehi.3,p.K654T	retained_intron, protein_coding, processed_transcript	uc011bjz.2	nonsynonymous SNV	exon12	c.A1214C	p.K405T	EYHQPGDKFEASKNDLGGCNGTSSM	EYHQPGDKFEASTNDLGGCNGTSSM	5.0	1.0	unscreened	-	4037_3:124390744-124390744 A>C_EYHQPGDKFEASTNDLGGCNGTSSM
3:182871679-182871679 T>C	0.0	4037	LUNG	-	-	-	-	LAMP3	NM_014398,p.K184E|ENST00000265598,p.K184E|ENST00000466939,p.K160E|uc003flh.4,p.K184E	protein_coding, processed_transcript	uc003flh.4	nonsynonymous SNV	exon2	c.A550G	p.K184E	LSIALHKSTTGQKPVQPTHAPGTTA	LSIALHKSTTGQEPVQPTHAPGTTA	6.0	9.0	unscreened	-	4037_3:182871679-182871679 T>C_LSIALHKSTTGQEPVQPTHAPGTTA
2:25505426-25505426 T>G	0.0	4037	LUNG	-	-	-	1	DNMT3A	NM_022552,p.K111T|ENST00000264709,p.K111T|uc002rgf.3,p.K111T|uc002rgd.4,p.K111T|ENST00000380756,p.K111T|uc002rgc.4,p.K111T|ENST00000406659,p.K111T|ENST00000321117,p.K111T|NM_175630,p.K111T|NM_175629,p.K111T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002rgf.3	nonsynonymous SNV	exon4	c.A332C	p.K111T	PQPEEGSPAGGQKGGAPAEGEGAAE	PQPEEGSPAGGQTGGAPAEGEGAAE	8.0	7.0	unscreened	-	4037_2:25505426-25505426 T>G_PQPEEGSPAGGQTGGAPAEGEGAAE
7:21907494-21907494 A>C	0.0	4037	LUNG	-	-	-	-	DNAH11	NM_001277115,p.K3903T|ENST00000409508,p.K3903T|ENST00000328843,p.K3910T|uc031swp.1,p.K3903T|uc031swq.1,p.K2100T	retained_intron, protein_coding, processed_transcript	uc031swq.1	nonsynonymous SNV	exon72	c.A6299C	p.K2100T	RMTYALRNFVEEKLGAKYVERTRLD	RMTYALRNFVEETLGAKYVERTRLD	5.0	3.0	unscreened	-	4037_7:21907494-21907494 A>C_RMTYALRNFVEETLGAKYVERTRLD
8:101020736-101020736 T>C	0.0	4037	LUNG	-	-	-	-	RGS22	ENST00000523287,p.K562R|NM_015668,p.K743R|ENST00000517828,p.K58R|ENST00000523437,p.K731R|uc022azf.1,p.K132R|uc003yja.1,p.K562R|NM_001286693,p.K562R|ENST00000360863,p.K743R|NM_001286692,p.K731R|uc003yjb.1,p.K743R|uc003yjc.1,p.K731R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022azf.1	nonsynonymous SNV	exon4	c.A395G	p.K132R	PSATLDIGLQQEKKKEIYMKIQPPF	PSATLDIGLQQERKKEIYMKIQPPF	1.0	8.0	unscreened	-	4037_8:101020736-101020736 T>C_PSATLDIGLQQERKKEIYMKIQPPF
6:43005689-43005689 T>C	1.0	4037	LUNG	-	-	-	-	CUL7	NM_001168370,p.K1696E|ENST00000265348,p.K1612E|ENST00000535468,p.K1696E|uc003otq.3,p.K1612E|uc011dvb.2,p.K1696E|uc010jyg.3,p.K891E|NM_014780,p.K1612E	protein_coding, processed_transcript	uc011dvb.2	nonsynonymous SNV	exon26	c.A5086G	p.K1696E	PCPPRGLVSSLGKGSACSSTDVLSC	PCPPRGLVSSLGEGSACSSTDVLSC	6.0	9.0	unscreened	-	4037_6:43005689-43005689 T>C_PCPPRGLVSSLGEGSACSSTDVLSC
15:42976840-42976840 G>A	0.0	4037	LUNG	-	-	-	-	STARD9	ENST00000290607,p.G1022R|uc010udj.2,p.G1022R|NM_020759,p.G1022R	retained_intron, protein_coding, nonsense_mediated_decay	uc010udj.2	nonsynonymous SNV	exon23	c.G3064A	p.G1022R	LYPHGPRQTAGHGKAVKTFWTEYKP	LYPHGPRQTAGHRKAVKTFWTEYKP	3.0	6.0	unscreened	-	4037_15:42976840-42976840 G>A_LYPHGPRQTAGHRKAVKTFWTEYKP
17:38975078-38975078 G>C	1.0	4037	LUNG	-	-	ID=COSM1679791;OCCURENCE=3(haematopoietic_and_lymphoid_tissue)	-	KRT10	NM_000421,p.S570C|uc002hvi.3,p.S570C|ENST00000269576,p.S570C	protein_coding	uc002hvi.3	nonsynonymous SNV	exon7	c.C1709G	p.S570C	GGGSSSGGHKSSSSGSVGESSSKGP	GGGSSSGGHKSSCSGSVGESSSKGP	7.0	1.0	unscreened	-	4037_17:38975078-38975078 G>C_GGGSSSGGHKSSCSGSVGESSSKGP
1:207300158-207300158 A>C	0.0	4037	LUNG	-	-	-	-	C4BPA	ENST00000367070,p.K269N|NM_000715,p.K269N|uc001hfo.3,p.K269N	protein_coding, nonsense_mediated_decay	uc001hfo.3	nonsynonymous SNV	exon7	c.A807C	p.K269N	YNYKDTIVFKCQKGFVLRGSSVIHC	YNYKDTIVFKCQNGFVLRGSSVIHC	2.0	8.0	unscreened	-	4037_1:207300158-207300158 A>C_YNYKDTIVFKCQNGFVLRGSSVIHC
X:29938106-29938106 T>C	0.0	4037	LUNG	-	-	-	-	IL1RAPL1	uc004dby.2,p.S318P|ENST00000378993,p.S318P|NM_014271,p.S318P|ENST00000302196,p.S318P	protein_coding	uc004dby.2	nonsynonymous SNV	exon8	c.T952C	p.S318P	LKEHLGEQEVSISLIVDSVEEGDLG	LKEHLGEQEVSIPLIVDSVEEGDLG	1.0	4.0	unscreened	-	4037_X:29938106-29938106 T>C_LKEHLGEQEVSIPLIVDSVEEGDLG
17:27003273-27003273 A>G	0.0	4037	LUNG	-	-	-	-	SUPT6H	NM_003170,p.E241G|ENST00000314616,p.E241G|uc002hby.3,p.E241G|ENST00000347486,p.E241G|uc010crt.3,p.E241G	retained_intron, protein_coding, nonsense_mediated_decay	uc010crt.3	nonsynonymous SNV	exon8	c.A722G	p.E241G	YNEYDEELEEEYEYEDDEAEGEIRV	YNEYDEELEEEYGYEDDEAEGEIRV	8.0	2.0	unscreened	-	4037_17:27003273-27003273 A>G_YNEYDEELEEEYGYEDDEAEGEIRV
7:89909046-89909046 A>G	0.0	4037	LUNG	-	-	-	-	CFAP69	uc003ukg.2,p.E79G|NM_001160138,p.E386G|uc011khj.2,p.E386G|uc010lep.3,p.E404G|ENST00000497910,p.E386G|NM_001039706,p.E404G|ENST00000457170,p.E287G|ENST00000389297,p.E404G|ENST00000316089,p.E404G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011khj.2	nonsynonymous SNV	exon12	c.A1157G	p.E386G	VILALFTYVKKPEKQKIIDWSAAQH	VILALFTYVKKPGKQKIIDWSAAQH	4.0	3.0	unscreened	-	4037_7:89909046-89909046 A>G_VILALFTYVKKPGKQKIIDWSAAQH
9:139946727-139946727 T>G	1.0	4037	LUNG	-	-	-	-	ENTPD2	NM_001246,p.N64T|ENST00000355097,p.N64T|NM_203468,p.N64T|ENST00000312665,p.N64T|uc004ckx.2,p.N64T|uc004ckw.2,p.N64T	protein_coding, processed_transcript	uc004ckx.2	nonsynonymous SNV	exon2	c.A191C	p.N64T	SMFIYKWPADKENDTGIVGQHSSCD	SMFIYKWPADKETDTGIVGQHSSCD	5.0	5.0	unscreened	-	4037_9:139946727-139946727 T>G_SMFIYKWPADKETDTGIVGQHSSCD
16:2506627-2506627 A>G	1.0	4037	LUNG	-	-	-	-	CCNF	uc002cqe.1,p.E348G|NM_001761,p.E656G|uc002cqd.1,p.E656G|ENST00000397066,p.E656G	retained_intron, protein_coding, nonsense_mediated_decay	uc002cqe.1	nonsynonymous SNV	exon16	c.A1043G	p.E348G	NPEQHCCQESSDEEACPEDKGPQDP	NPEQHCCQESSDGEACPEDKGPQDP	7.0	9.0	unscreened	-	4037_16:2506627-2506627 A>G_NPEQHCCQESSDGEACPEDKGPQDP
1:240071391-240071391 A>G	0.0	4037	LUNG	-	-	-	-	CHRM3	ENST00000255380,p.R214G|uc001hyp.3,p.R214G|uc021plc.1,p.R214G|NM_000740,p.R214G	protein_coding, processed_transcript	uc021plc.1	nonsynonymous SNV	exon1	c.A640G	p.R214G	PAILFWQYFVGKRTVPPGECFIQFL	PAILFWQYFVGKGTVPPGECFIQFL	3.0	8.0	unscreened	-	4037_1:240071391-240071391 A>G_PAILFWQYFVGKGTVPPGECFIQFL
7:123302764-123302764 T>G	0.0	4037	LUNG	-	-	-	-	LMOD2	ENST00000458573,p.L375R|NM_207163,p.L375R|uc003vky.2,p.L375R	protein_coding	uc003vky.2	nonsynonymous SNV	exon2	c.T1124G	p.L375R	QKQQEGYDGGPNLRTKVWQRGTPSS	QKQQEGYDGGPNRRTKVWQRGTPSS	1.0	3.0	unscreened	-	4037_7:123302764-123302764 T>G_QKQQEGYDGGPNRRTKVWQRGTPSS
11:123886992-123886992 T>A	0.0	4037	LUNG	-	-	-	-	OR10G4	NM_001004462,p.F237L|ENST00000320891,p.F237L|uc010sac.2,p.F237L	protein_coding	uc010sac.2	nonsynonymous SNV	exon1	c.T711A	p.F237L	LRIRTSDGRRRAFQTCASHCIVVLC	LRIRTSDGRRRALQTCASHCIVVLC	1.0	2.0	unscreened	-	4037_11:123886992-123886992 T>A_LRIRTSDGRRRALQTCASHCIVVLC
4:100057843-100057843 A>C	0.0	4037	LUNG	-	-	-	-	ADH4	ENST00000505590,p.L138R|ENST00000423445,p.L138R|ENST00000512499,p.L138R|NM_000670,p.L119R|uc011ced.2,p.L138R|ENST00000265512,p.L119R|ENST00000508393,p.L138R|uc003hun.3,p.L119R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ced.2	nonsynonymous SNV	exon6	c.T413G	p.L138R	SPLTNLCGKISNLKSPASDQQLMED	SPLTNLCGKISNRKSPASDQQLMED	1.0	8.0	unscreened	-	4037_4:100057843-100057843 A>C_SPLTNLCGKISNRKSPASDQQLMED
8:27507238-27507238 T>A	0.0	4037	LUNG	-	-	-	-	SCARA3	uc003xgb.1,p.D9E|ENST00000337221,p.D9E|NM_016240,p.D9E|NM_182826,p.D9E|ENST00000301904,p.D9E|uc003xga.1,p.D9E	protein_coding	uc003xgb.1	nonsynonymous SNV	exon2	c.T27A	p.D9E	MKVRSAGGDGDALCVTEEDLA	MKVRSAGGEGDALCVTEEDLA	4.0	8.0	unscreened	-	4037_8:27507238-27507238 T>A_MKVRSAGGEGDALCVTEEDLA
19:55888382-55888382 T>G	0.0	4037	LUNG	-	-	-	-	TMEM190	NM_139172,p.F28V|uc002qkt.1,p.F28V|ENST00000291934,p.F28V	protein_coding	uc002qkt.1	nonsynonymous SNV	exon2	c.T82G	p.F28V	QGSADGNGIQGFFYPWSCEGDIWDR	QGSADGNGIQGFVYPWSCEGDIWDR	1.0	5.0	unscreened	-	4037_19:55888382-55888382 T>G_QGSADGNGIQGFVYPWSCEGDIWDR
X:12704232-12704232 A>C	0.0	4037	LUNG	-	-	-	-	FRMPD4	ENST00000380682,p.N197T|uc004cuz.2,p.N197T|NM_014728,p.N197T|uc011mij.2,p.N189T	protein_coding	uc011mij.2	nonsynonymous SNV	exon8	c.A566C	p.N189T	IINGQVSETVKDNSLLFMPNVLKVY	IINGQVSETVKDTSLLFMPNVLKVY	1.0	8.0	unscreened	-	4037_X:12704232-12704232 A>C_IINGQVSETVKDTSLLFMPNVLKVY
3:185407329-185407329 G>A	0.0	4037	LUNG	-	-	-	-	IGF2BP2	uc010hyk.3,p.S28L|NM_001007225,p.S164L|NM_001291873,p.S101L|ENST00000421047,p.S107L|ENST00000457616,p.S170L|uc003fpo.3,p.S164L|uc003fpq.3,p.S169L|NM_001291875,p.S28L|NM_001291872,p.S107L|uc010hyj.3,p.S101L|uc003fpp.3,p.S164L|NM_001291874,p.S101L|ENST00000382199,p.S164L|ENST00000346192,p.S164L|uc010hyl.3,p.S101L|NM_001291869,p.S170L|NM_006548,p.S164L|uc010hyi.3,p.S107L	protein_coding, processed_transcript	uc010hyl.3	nonsynonymous SNV	exon5	c.C302T	p.S101L	ISYIPDEEVSSPSPPQRAQRGDHSS	ISYIPDEEVSSPLPPQRAQRGDHSS	4.0	4.0	unscreened	-	4037_3:185407329-185407329 G>A_ISYIPDEEVSSPLPPQRAQRGDHSS
2:197541420-197541420 T>C	0.0	4037	LUNG	-	-	-	-	CCDC150	ENST00000423093,p.S137P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000423093	nonsynonymous SNV	exon6	c.T409C	p.S137P	RGELEASMQEKKSLLEEKERFQREG	RGELEASMQEKKPLLEEKERFQREG	5.0	2.0	unscreened	-	4037_2:197541420-197541420 T>C_RGELEASMQEKKPLLEEKERFQREG
8:144672060-144672060 T>G	1.0	4037	LUNG	-	-	ID=COSM1250955;OCCURENCE=1(oesophagus)	-	EEF1D	uc003yyp.2,p.E64D|ENST00000525261,p.E64D|NM_032378,p.E64D|ENST00000532741,p.E114D|ENST00000524883,p.E64D|uc003yyt.3,p.E64D|ENST00000526710,p.E64D|ENST00000531281,p.E64D|ENST00000530545,p.E64D|ENST00000531670,p.E64D|ENST00000530306,p.E64D|ENST00000528519,p.E64D|NM_001130053,p.E64D|ENST00000423316,p.E64D|uc003yyr.3,p.E64D|ENST00000442189,p.E64D|uc003yyq.2,p.E114D|ENST00000532596,p.E64D|ENST00000529832,p.E64D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yyt.3	nonsynonymous SNV	exon3	c.A192C	p.E64D	PGQDDPEDADEAEAPDGGSRRDPRK	PGQDDPEDADEADAPDGGSRRDPRK	10.0	2.0	unscreened	-	4037_8:144672060-144672060 T>G_PGQDDPEDADEADAPDGGSRRDPRK
6:43225620-43225620 A>T	0.0	4037	LUNG	-	-	-	-	TTBK1	ENST00000304139,p.E260V|uc003ouq.1,p.E311V|ENST00000259750,p.E311V|NM_032538,p.E311V	protein_coding	uc003ouq.1	nonsynonymous SNV	exon10	c.A932T	p.E311V	ERGIAENEAFDWEKAGTDALLSTST	ERGIAENEAFDWVKAGTDALLSTST	1.0	7.0	unscreened	-	4037_6:43225620-43225620 A>T_ERGIAENEAFDWVKAGTDALLSTST
2:197541420-197541420 T>C	0.0	4037	LUNG	-	-	-	-	CCDC150	uc010zgs.1,p.S137P|ENST00000389175,p.S469P|uc002utp.1,p.S469P|ENST00000272831,p.S137P|NM_001080539,p.S469P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zgs.1	nonsynonymous SNV	exon8	c.T409C	p.S137P	RGELEASMQEKKSLLEEKERFQREV	RGELEASMQEKKPLLEEKERFQREV	5.0	2.0	unscreened	-	4037_2:197541420-197541420 T>C_RGELEASMQEKKPLLEEKERFQREV
7:18625099-18625099 A>G	1.0	4037	LUNG	-	-	-	-	HDAC9	ENST00000417496,p.E115G|ENST00000432645,p.E73G|uc003sue.3,p.E73G|NM_001204144,p.E115G|uc011jya.2,p.E115G|ENST00000413380,p.E73G|uc011jye.2,p.E42G|ENST00000413509,p.E73G|uc003sua.1,p.E92G|ENST00000441542,p.E73G|ENST00000441986,p.E42G|ENST00000406451,p.E73G|uc011jyf.2,p.E42G|uc011jyd.2,p.E73G|NM_014707,p.E73G|NM_001204146,p.E73G|ENST00000524023,p.E42G|ENST00000401921,p.E73G|uc010kud.2,p.E73G|NM_178425,p.E73G|ENST00000405010,p.E73G|uc003suh.3,p.E73G|NM_178423,p.E73G|NM_001204148,p.E42G|NM_001204145,p.E73G|ENST00000456174,p.E42G|uc011jyb.2,p.E73G|uc011jyc.2,p.E73G|NM_058176,p.E73G|ENST00000430454,p.E42G|uc003sud.2,p.E73G|uc003sui.3,p.E73G|ENST00000406072,p.E101G|uc003suj.3,p.E73G|NM_001204147,p.E42G|ENST00000428307,p.E73G|uc003suf.2,p.E101G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011jyf.2	nonsynonymous SNV	exon2	c.A125G	p.E42G	KQLLIAEFQKQHENLTRQHQAQLQE	KQLLIAEFQKQHGNLTRQHQAQLQE	4.0	5.0	unscreened	-	4037_7:18625099-18625099 A>G_KQLLIAEFQKQHGNLTRQHQAQLQE
11:107832731-107832731 C>A	0.0	4037	LUNG	-	-	-	-	RAB39A	ENST00000320578,p.T96N|uc001pjt.3,p.T96N|NM_017516,p.T96N	protein_coding	uc001pjt.3	nonsynonymous SNV	exon2	c.C287A	p.T96N	RNSVGGFLVFDITNRRSFEHVKDWL	RNSVGGFLVFDINNRRSFEHVKDWL	4.0	2.0	unscreened	-	4037_11:107832731-107832731 C>A_RNSVGGFLVFDINNRRSFEHVKDWL
7:27224577-27224577 T>C	0.0	4037	LUNG	-	-	-	1	HOXA11	NM_005523,p.R63G|ENST00000006015,p.R63G|uc003syx.3,p.R63G	protein_coding	uc003syx.3	nonsynonymous SNV	exon1	c.A187G	p.R63G	LPQVQPVREVTFREYAIEPATKWHP	LPQVQPVREVTFGEYAIEPATKWHP	2.0	5.0	unscreened	-	4037_7:27224577-27224577 T>C_LPQVQPVREVTFGEYAIEPATKWHP
9:32635065-32635065 T>G	0.0	4037	LUNG	-	-	-	-	TAF1L	uc003zrg.1,p.Q171H|ENST00000242310,p.Q171H|NM_153809,p.Q171H	protein_coding	uc003zrg.1	nonsynonymous SNV	exon1	c.A513C	p.Q171H	PPPPGPMKKDKDQDAITCVSESGED	PPPPGPMKKDKDHDAITCVSESGED	3.0	2.0	unscreened	-	4037_9:32635065-32635065 T>G_PPPPGPMKKDKDHDAITCVSESGED
10:54041965-54041965 T>A	0.0	4037	LUNG	-	-	-	-	PRKG1	ENST00000373980,p.F533Y|NM_006258,p.F533Y|ENST00000373975,p.F236Y|uc001jjo.3,p.F533Y|uc001jjm.3,p.F518Y|ENST00000401604,p.F518Y|NM_001098512,p.F518Y|ENST00000373985,p.F506Y|uc009xow.2,p.F236Y	protein_coding	uc009xow.2	nonsynonymous SNV	exon11	c.T707A	p.F236Y	AKKIGFGKKTWTFCGTPEYVAPEII	AKKIGFGKKTWTYCGTPEYVAPEII	4.0	6.0	unscreened	-	4037_10:54041965-54041965 T>A_AKKIGFGKKTWTYCGTPEYVAPEII
15:63990989-63990989 T>G	0.0	4037	LUNG	-	-	-	-	HERC1	ENST00000443617,p.S1615R|uc010uil.1,p.S599R|NM_003922,p.S1615R|uc002amp.3,p.S1615R|ENST00000561400,p.S599R	retained_intron, protein_coding, nonsense_mediated_decay	uc010uil.1	nonsynonymous SNV	exon7	c.A1795C	p.S599R	VGNAPGFKEPEESMSTSPQASIIAM	VGNAPGFKEPEERMSTSPQASIIAM	7.0	6.0	unscreened	-	4037_15:63990989-63990989 T>G_VGNAPGFKEPEERMSTSPQASIIAM
7:100484744-100484744 A>G	1.0	4037	LUNG	-	-	-	-	SRRT	NM_001128852,p.E632G|NM_001128854,p.E632G|ENST00000448764,p.E263G|ENST00000347433,p.E633G|uc003uxa.2,p.E632G|ENST00000432932,p.E632G|ENST00000388793,p.E632G|uc003uwz.2,p.E633G|NM_015908,p.E633G|NM_001128853,p.E633G|uc010lhl.1,p.E632G|ENST00000457580,p.E633G|uc003uwy.2,p.E633G	retained_intron, protein_coding, nonsense_mediated_decay	uc010lhl.1	nonsynonymous SNV	exon15	c.A1895G	p.E632G	SLDYYNTCEYPNEDEMPNRCGIIHV	SLDYYNTCEYPNGDEMPNRCGIIHV	8.0	4.0	unscreened	-	4037_7:100484744-100484744 A>G_SLDYYNTCEYPNGDEMPNRCGIIHV
1:20810191-20810191 A>C	0.0	4037	LUNG	-	-	-	-	CAMK2N1	ENST00000375078,p.I63S|NM_018584,p.I63S|uc001bdh.3,p.I63S	protein_coding, processed_transcript	uc001bdh.3	nonsynonymous SNV	exon2	c.T188G	p.I63S	GRSKRVVIEDDRIDDVLKNMTDKAP	GRSKRVVIEDDRSDDVLKNMTDKAP	5.0	4.0	unscreened	-	4037_1:20810191-20810191 A>C_GRSKRVVIEDDRSDDVLKNMTDKAP
16:3740872-3740872 T>C	1.0	4037	LUNG	-	-	-	-	TRAP1	NM_016292,p.E68G|ENST00000571011,p.E68G|ENST00000246957,p.E68G|uc002cvt.4,p.E68G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002cvt.4	nonsynonymous SNV	exon2	c.A203G	p.E68G	GRLFSTQTAEDKEEPLHSIISSTES	GRLFSTQTAEDKGEPLHSIISSTES	9.0	6.0	unscreened	-	4037_16:3740872-3740872 T>C_GRLFSTQTAEDKGEPLHSIISSTES
17:72889676-72889676 ->GGCTCCGTAGGTTCCATC	0.0	4037	LUNG	-	-	-	-	FADS6	ENST00000310226,p.P6delinsPMEPTEP|NM_178128,p.P6delinsPMEPTEP|uc002jmd.1,p.P6delinsPMEPTEP	retained_intron, protein_coding	uc002jmd.1	nonframeshift insertion	exon1	c.17_18insGATGGAACCTACGGAGCC	p.P6delinsPMEPTEP	MEPTEPMEPTEPMEPARS	MEPTEPMEPTEPMEPTEP	1.0	9.0	unscreened	-	4037_17:72889676-72889676 ->GGCTCCGTAGGTTCCATC_MEPTEPMEPTEPMEPTEP
18:19057214-19057214 A>C	0.0	4037	LUNG	-	-	-	-	GREB1L	ENST00000269218,p.N709T|ENST00000580732,p.N818T|uc010xam.2,p.N818T|ENST00000424526,p.N818T|uc010dlp.1,p.N709T|NM_001142966,p.N818T|uc010xan.1,p.N234T	retained_intron, protein_coding, processed_transcript	uc010xan.1	nonsynonymous SNV	exon5	c.A701C	p.N234T	RVINCREVLEAFNLLVLQVSSFPYT	RVINCREVLEAFTLLVLQVSSFPYT	3.0	7.0	unscreened	-	4037_18:19057214-19057214 A>C_RVINCREVLEAFTLLVLQVSSFPYT
20:61574937-61574937 A>T	1.0	4037	LUNG	-	-	-	-	GID8	ENST00000266069,p.S136C|uc002ydy.3,p.S136C|NM_017896,p.S136C	protein_coding, processed_transcript	uc002ydy.3	nonsynonymous SNV	exon4	c.A406T	p.S136C	FAQTQLAEQGEESRECLTEMERTLA	FAQTQLAEQGEECRECLTEMERTLA	10.0	6.0	-	-	4037_20:61574937-61574937 A>T_FAQTQLAEQGEECRECLTEMERTLA
16:3293879-3293879 A>G	0.0	4037	LUNG	-	-	-	-	MEFV	ENST00000541159,p.W439R	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000541159	nonsynonymous SNV	exon8	c.T1315C	p.W439R	PYLIFLRSSGADWRSGTCC	PYLIFLRSSGADRRSGTCC	2.0	2.0	unscreened	-	4037_16:3293879-3293879 A>G_PYLIFLRSSGADRRSGTCC
17:36666553-36666553 A>G	0.0	4037	LUNG	-	-	-	-	ARHGAP23	ENST00000431231,p.E1274G|ENST00000443378,p.E1180G|NM_001199417,p.E1274G|uc021twd.1,p.E1274G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021twd.1	nonsynonymous SNV	exon24	c.A3821G	p.E1274G	SGASGRRAGAGDEADDERSELSHVE	SGASGRRAGAGDGADDERSELSHVE	7.0	5.0	unscreened	-	4037_17:36666553-36666553 A>G_SGASGRRAGAGDGADDERSELSHVE
1:32834134-32834134 T>C	1.0	4037	LUNG	-	-	-	-	BSDC1	ENST00000444377,p.Q428R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000444377	nonsynonymous SNV	exon11	c.A1283G	p.Q428R	SNLPFPRLKHGHQ	SNLPFPRLKHGHR	9.0	2.0	unscreened	-	4037_1:32834134-32834134 T>C_SNLPFPRLKHGHR
12:122985351-122985351 A>G	0.0	4037	LUNG	-	-	-	2	ZCCHC8	NM_017612,p.F13L|ENST00000336229,p.F13L|uc001ucn.3,p.F13L	retained_intron, protein_coding	uc001ucn.3	nonsynonymous SNV	exon1	c.T37C	p.F13L	MAAEVYFGDLELFEPFDHPEESIPK	MAAEVYFGDLELLEPFDHPEESIPK	7.0	5.0	unscreened	-	4037_12:122985351-122985351 A>G_MAAEVYFGDLELLEPFDHPEESIPK
20:21687486-21687486 C>T	0.0	4037	LUNG	-	-	-	-	PAX1	NM_006192,p.P233S|NM_001257096,p.P233S|uc010zsm.3,p.P209S|uc002wsj.3,p.P233S|ENST00000444366,p.P209S|ENST00000398485,p.P233S|uc010zsl.3,p.P233S	retained_intron, protein_coding, processed_transcript	uc010zsm.3	nonsynonymous SNV	exon1	c.C625T	p.P209S	LRNKIGSLAQPGPYEASKQPPSQPT	LRNKIGSLAQPGSYEASKQPPSQPT	1.0	8.0	unscreened	-	4037_20:21687486-21687486 C>T_LRNKIGSLAQPGSYEASKQPPSQPT
7:44186195-44186195 T>C	0.0	4037	LUNG	-	-	-	-	GCK	uc003tkl.2,p.K296E|NM_033507,p.K297E|ENST00000437084,p.K279E|ENST00000395796,p.K295E|NM_000162,p.K296E|uc003tkk.1,p.K297E|uc003tkj.1,p.K295E|ENST00000345378,p.K297E|ENST00000403799,p.K296E|NM_033508,p.K295E	retained_intron, protein_coding, processed_transcript	uc003tkl.2	nonsynonymous SNV	exon8	c.A886G	p.K296E	PGQQLYEKLIGGKYMGELVRLVLLR	PGQQLYEKLIGGEYMGELVRLVLLR	1.0	2.0	unscreened	-	4037_7:44186195-44186195 T>C_PGQQLYEKLIGGEYMGELVRLVLLR
16:84485593-84485593 A>-	0.0	4037	LUNG	-	-	-	-	ATP2C2	NM_014861,p.D576fs|ENST00000416219,p.D576fs|uc002fhy.3,p.D593fs|uc002fhx.3,p.D576fs|uc010chj.3,p.D576fs|NM_001291454,p.D425fs|uc002fhz.3,p.D425fs|ENST00000262429,p.D576fs|NM_001286527,p.D576fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc010chj.3	frameshift deletion	exon18	c.1727delA	p.D576fs	GRLTFLGLVGIIDPPRVGVKEAVQV	GRLTFLGLVGIIAPRELA	7.0	5.0	unscreened	-	4037_16:84485593-84485593 A>-_GRLTFLGLVGIIAPRELA
14:96730869-96730869 T>C	0.0	4037	LUNG	-	-	-	-	BDKRB1	uc021sbj.1,p.C284R|ENST00000216629,p.C284R|NM_000710,p.C284R|uc001yfh.3,p.C284R	protein_coding, processed_transcript	uc021sbj.1	nonsynonymous SNV	exon1	c.T850C	p.C284R	LEFLFQVQAVRGCFWEDFIDLGLQL	LEFLFQVQAVRGRFWEDFIDLGLQL	2.0	4.0	unscreened	-	4037_14:96730869-96730869 T>C_LEFLFQVQAVRGRFWEDFIDLGLQL
7:11486937-11486937 C>T	0.0	4037	LUNG	-	-	-	-	THSD7A	uc021zzn.1,p.C907Y|ENST00000423059,p.C907Y|uc021zzo.1,p.C907Y|NM_015204,p.C907Y	retained_intron, protein_coding, processed_transcript	uc021zzo.1	nonsynonymous SNV	exon12	c.G2720A	p.C907Y	LTQACQIPCQDDCQLTSWSKFSSCN	LTQACQIPCQDDYQLTSWSKFSSCN	2.0	4.0	unscreened	-	4037_7:11486937-11486937 C>T_LTQACQIPCQDDYQLTSWSKFSSCN
8:68934278-68934278 A>G	0.0	4037	LUNG	-	-	-	1	PREX2	uc011lez.1,p.K50R	protein_coding, processed_transcript	uc011lez.1	nonsynonymous SNV	exon2	c.A149G	p.K50R	YVGTLEFLVSKDKFRIYDEYCSNHE	YVGTLEFLVSKDRFRIYDEYCSNHE	2.0	3.0	unscreened	-	4037_8:68934278-68934278 A>G_YVGTLEFLVSKDRFRIYDEYCSNHE
10:21903790-21903790 A>T	1.0	4037	LUNG	-	-	ID=COSM3382809,COSM3382810;OCCURENCE=1(pancreas)	1	MLLT10	ENST00000446906,p.E180D|uc021pny.1,p.E180D|ENST00000377072,p.E180D|uc001iqt.3,p.E180D|ENST00000307729,p.E180D|NM_004641,p.E180D|NM_001195626,p.E180D|uc001iqs.3,p.E180D|ENST00000377059,p.E180D	protein_coding, processed_transcript	uc021pny.1	nonsynonymous SNV	exon6	c.A540T	p.E180D	VTCAQFAGLLCEEEGNGADNVQYCG	VTCAQFAGLLCEDEGNGADNVQYCG	9.0	2.0	unscreened	-	4037_10:21903790-21903790 A>T_VTCAQFAGLLCEDEGNGADNVQYCG
16:3293879-3293879 A>G	0.0	4037	LUNG	-	-	-	-	MEFV	NM_001198536,p.W439R|uc021tbw.1,p.W439R	retained_intron, protein_coding, nonsense_mediated_decay	uc021tbw.1	nonsynonymous SNV	exon8	c.T1315C	p.W439R	PYLIFLRSSRADWRSGTCC	PYLIFLRSSRADRRSGTCC	2.0	2.0	unscreened	-	4037_16:3293879-3293879 A>G_PYLIFLRSSRADRRSGTCC
7:148801311-148801311 T>A	0.0	4037	LUNG	-	-	-	-	ZNF425	ENST00000378061,p.E551V|uc003wfj.3,p.E551V|NM_001001661,p.E551V	retained_intron, protein_coding, processed_transcript	uc003wfj.3	nonsynonymous SNV	exon4	c.A1652T	p.E551V	AHLTEHTRLHSGEEPFQCPECDKSF	AHLTEHTRLHSGVEPFQCPECDKSF	4.0	2.0	unscreened	-	4037_7:148801311-148801311 T>A_AHLTEHTRLHSGVEPFQCPECDKSF
4:10022950-10022950 T>A	0.0	4037	LUNG	-	-	-	-	SLC2A9	NM_020041,p.E35V|ENST00000264784,p.E35V|uc003gmc.3,p.E35V	protein_coding, processed_transcript	uc003gmc.3	nonsynonymous SNV	exon1	c.A104T	p.E35V	HAGPPGPGRALLECDHLRSGVPGGR	HAGPPGPGRALLVCDHLRSGVPGGR	5.0	7.0	unscreened	-	4037_4:10022950-10022950 T>A_HAGPPGPGRALLVCDHLRSGVPGGR
13:101725965-101725965 C>T	0.0	4037	LUNG	-	-	-	-	NALCN	ENST00000251127,p.D1390N|uc001vox.1,p.D1390N|NM_052867,p.D1390N	retained_intron, protein_coding, processed_transcript	uc001vox.1	nonsynonymous SNV	exon37	c.G4168A	p.D1390N	AITVLFRIVTGEDWNKIMHDCMVQP	AITVLFRIVTGENWNKIMHDCMVQP	1.0	7.0	unscreened	-	4037_13:101725965-101725965 C>T_AITVLFRIVTGENWNKIMHDCMVQP
3:196386653-196386653 A>G	0.0	4037	LUNG	-	-	-	-	NRROS	ENST00000328557,p.S47G|uc003fwv.3,p.S47G|NM_198565,p.S47G	retained_intron, protein_coding	uc003fwv.3	nonsynonymous SNV	exon3	c.A139G	p.S47G	KLVGGAADCRGQSLASVPSSLPPHA	KLVGGAADCRGQGLASVPSSLPPHA	5.0	5.0	unscreened	-	4037_3:196386653-196386653 A>G_KLVGGAADCRGQGLASVPSSLPPHA
1:12123693-12123693 T>A	0.0	4037	LUNG	-	-	-	-	TNFRSF8	ENST00000263932,p.L13Q|NM_001243,p.L13Q|uc001atq.3,p.L13Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc001atq.3	nonsynonymous SNV	exon1	c.T38A	p.L13Q	MRVLLAALGLLFLGALRAFPQDRPF	MRVLLAALGLLFQGALRAFPQDRPF	2.0	7.0	unscreened	-	4037_1:12123693-12123693 T>A_MRVLLAALGLLFQGALRAFPQDRPF
7:88963309-88963309 C>A	0.0	4037	LUNG	-	-	-	-	ZNF804B	NM_181646,p.P338H|ENST00000333190,p.P338H|uc011khi.2,p.P338H	protein_coding	uc011khi.2	nonsynonymous SNV	exon4	c.C1013A	p.P338H	KSNIHLSDVDFTPTSREKETRNTLK	KSNIHLSDVDFTHTSREKETRNTLK	1.0	2.0	unscreened	-	4037_7:88963309-88963309 C>A_KSNIHLSDVDFTHTSREKETRNTLK
15:45440177-45440177 A>G	0.0	4037	LUNG	-	-	-	-	DUOX1	uc010bee.1,p.E255G|NM_175940,p.E875G|uc001zut.1,p.E875G|NM_017434,p.E875G|uc001zus.1,p.E875G|ENST00000321429,p.E875G|ENST00000561166,p.E521G|ENST00000389037,p.E875G|uc001zuu.3,p.E17G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bee.1	nonsynonymous SNV	exon19	c.A764G	p.E255G	YDFDGNGLISKDEFIRMLRSFIEIS	YDFDGNGLISKDGFIRMLRSFIEIS	1.0	7.0	unscreened	-	4037_15:45440177-45440177 A>G_YDFDGNGLISKDGFIRMLRSFIEIS
12:21967599-21967599 T>C	0.0	4037	LUNG	-	-	-	-	ABCC9	ENST00000544039,p.R988G|NM_020297,p.R1361G|uc001rfi.1,p.R1361G|ENST00000345162,p.R1325G|ENST00000261201,p.R1361G|uc001rfh.3,p.R1361G|NM_005691,p.R1361G|ENST00000261200,p.R1361G	protein_coding	uc001rfi.1	nonsynonymous SNV	exon33	c.A4081G	p.R1361G	GSGKSSLSLAFFRMVDIFDGKIVID	GSGKSSLSLAFFGMVDIFDGKIVID	4.0	4.0	unscreened	-	4037_12:21967599-21967599 T>C_GSGKSSLSLAFFGMVDIFDGKIVID
5:1112055-1112055 C>T	1.0	4037	LUNG	-	-	-	-	SLC12A7	ENST00000264930,p.G18R|NM_006598,p.G18R|uc003jbu.3,p.G18R	retained_intron, protein_coding	uc003jbu.3	nonsynonymous SNV	exon1	c.G52A	p.G18R	TVVPVEAHADGGGDETAERTEAPGT	TVVPVEAHADGGRDETAERTEAPGT	6.0	8.0	unscreened	-	4037_5:1112055-1112055 C>T_TVVPVEAHADGGRDETAERTEAPGT
12:31648845-31648845 A>C	0.0	4037	LUNG	-	-	-	-	DENND5B	uc001rki.1,p.F46V|NM_144973,p.F46V|ENST00000389082,p.F46V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rki.1	nonsynonymous SNV	exon2	c.T136G	p.F46V	SGLEPDELAGENFDQSPLRRTFKSK	SGLEPDELAGENVDQSPLRRTFKSK	5.0	2.0	unscreened	-	4037_12:31648845-31648845 A>C_SGLEPDELAGENVDQSPLRRTFKSK
12:31648845-31648845 A>C	0.0	4037	LUNG	-	-	-	-	DENND5B	uc001rkh.1,p.F81V|ENST00000306833,p.F81V|ENST00000354285,p.F68V|uc001rkj.3,p.F68V|ENST00000536562,p.F81V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rkj.3	nonsynonymous SNV	exon3	c.T202G	p.F68V	SQGAANTTSGENFDQSPLRRTFKSK	SQGAANTTSGENVDQSPLRRTFKSK	5.0	2.0	unscreened	-	4037_12:31648845-31648845 A>C_SQGAANTTSGENVDQSPLRRTFKSK
14:57085335-57085335 C>A	1.0	4037	LUNG	-	-	-	-	TMEM260	ENST00000539559,p.A322E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000539559	nonsynonymous SNV	exon9	c.C965A	p.A322E	CLATKWNDSGCRAMQ	CLATKWNDSGCREMQ	7.0	8.0	unscreened	-	4037_14:57085335-57085335 C>A_CLATKWNDSGCREMQ
17:6589588-6589588 G>C	0.0	4037	LUNG	-	-	-	-	SLC13A5	ENST00000573648,p.R503G|uc010vtf.2,p.R503G|NM_001284510,p.R506G|ENST00000381074,p.R506G|uc002gdj.3,p.R549G|uc010clq.3,p.R506G|NM_001284509,p.R532G|NM_001143838,p.R503G|ENST00000293800,p.R532G|ENST00000433363,p.R549G|uc002gdk.3,p.R532G|NM_177550,p.R549G	retained_intron, protein_coding, nonsense_mediated_decay	uc010vtf.2	nonsynonymous SNV	exon11	c.C1507G	p.R503G	VFCVFLAVNTWGRAIFDLDHFPDWA	VFCVFLAVNTWGGAIFDLDHFPDWA	1.0	4.0	unscreened	-	4037_17:6589588-6589588 G>C_VFCVFLAVNTWGGAIFDLDHFPDWA
1:152957821-152957844 GAGCCCTGCCACCCCAAGGTGCCT>-	0.0	4037	LUNG	-	-	-	-	SPRR1A	uc009wnu.2,p.39_46del|uc021ozn.1,p.39_46del|NM_005987,p.39_46del|ENST00000368762,p.39_46del|uc001faw.3,p.39_46del|NM_001199828,p.39_46del|ENST00000307122,p.39_46del	protein_coding	uc021ozn.1	nonframeshift deletion	exon1	c.115_138del	p.39_46del	PPPQEPCIPKTKEPCHPKVPEPCHP	PPPQEPCIPKTKEPCHPKVPEPCQP	1.0	9.0	unscreened	-	4037_1:152957821-152957844 GAGCCCTGCCACCCCAAGGTGCCT>-_PPPQEPCIPKTKEPCHPKVPEPCQP
15:91428283-91428283 T>C	1.0	4037	LUNG	-	-	-	1	FES	ENST00000394302,p.F3S|NM_002005,p.F3S|ENST00000559355,p.F3S|uc002bpy.3,p.F3S|uc002bpv.3,p.F3S|ENST00000414248,p.F3S|uc010uqj.2,p.F3S|ENST00000328850,p.F3S|ENST00000450438,p.F3S|uc002bpx.3,p.F3S|ENST00000452243,p.F3S|uc010uqk.2,p.F3S|NM_001143784,p.F3S|uc010bny.3,p.F3S|NM_001143785,p.F3S|ENST00000444422,p.F3S|NM_001143783,p.F3S|ENST00000464684,p.F3S|ENST00000416779,p.F3S|ENST00000394300,p.F3S|ENST00000470152,p.F3S|ENST00000443697,p.F3S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uqk.2	nonsynonymous SNV	exon2	c.T8C	p.F3S	MGFSSELCSPQGHGV	MGSSSELCSPQGHGV	6.0	9.0	unscreened	-	4037_15:91428283-91428283 T>C_MGSSSELCSPQGHGV
7:82585782-82585782 T>G	0.0	4037	LUNG	-	-	ID=COSM1261549,COSM1261551,COSM1261550;OCCURENCE=1(oesophagus)	-	PCLO	ENST00000333891,p.K1496T|NM_033026,p.K1496T|uc003uhx.2,p.K1496T|NM_014510,p.K1496T|uc003uhv.2,p.K1496T|ENST00000423517,p.K1496T	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon5	c.A4487C	p.K1496T	QQDIPSSKDHKEKSEFVDDITTRRE	QQDIPSSKDHKETSEFVDDITTRRE	1.0	2.0	unscreened	-	4037_7:82585782-82585782 T>G_QQDIPSSKDHKETSEFVDDITTRRE
5:156712425-156712425 A>T	0.0	4037	LUNG	-	-	-	-	CYFIP2	uc021ygn.1,p.E18D|uc011ddo.2,p.E18D|ENST00000520759,p.E18D|ENST00000519002,p.E18D|ENST00000517753,p.E18D|uc021ygm.1,p.E18D|NM_001037333,p.E18D|ENST00000521420,p.E18D|ENST00000520419,p.E18D|ENST00000519252,p.E18D|NM_014376,p.E18D|ENST00000347377,p.E18D|ENST00000377576,p.E18D|ENST00000517850,p.E18D|ENST00000523119,p.E18D|ENST00000522637,p.E18D|uc021ygo.1,p.E18D|NM_001291721,p.E18D|ENST00000318218,p.E18D|ENST00000519153,p.E18D|ENST00000523969,p.E18D|ENST00000522463,p.E18D|NM_001291722,p.E18D|ENST00000522423,p.E18D|uc011ddn.2,p.E18D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ygo.1	nonsynonymous SNV	exon2	c.A54T	p.E18D	TLEDALSNVDLLEELPLPDQQPCIE	TLEDALSNVDLLDELPLPDQQPCIE	5.0	8.0	unscreened	-	4037_5:156712425-156712425 A>T_TLEDALSNVDLLDELPLPDQQPCIE
22:35947709-35947709 A>G	1.0	4037	LUNG	-	-	-	-	RASD2	uc003anx.3,p.H144R|NM_014310,p.H144R|uc003any.3,p.H144R|ENST00000216127,p.H144R	protein_coding	uc003any.3	nonsynonymous SNV	exon2	c.A431G	p.H144R	ELPMVICGNKNDHGELCRQVPTTEA	ELPMVICGNKNDRGELCRQVPTTEA	7.0	3.0	unscreened	-	4037_22:35947709-35947709 A>G_ELPMVICGNKNDRGELCRQVPTTEA
2:187611825-187611825 A>C	0.0	4037	LUNG	-	-	-	-	FAM171B	uc002ups.3,p.K191T|NM_177454,p.K191T|ENST00000304698,p.K191T|uc002upr.1,p.K191T	protein_coding	uc002ups.3	nonsynonymous SNV	exon4	c.A572C	p.K191T	DTVLITGKLADAKSQPSVQFSKALI	DTVLITGKLADATSQPSVQFSKALI	3.0	4.0	unscreened	-	4037_2:187611825-187611825 A>C_DTVLITGKLADATSQPSVQFSKALI
1:70502195-70502195 T>C	0.0	4037	LUNG	-	-	-	-	LRRC7	ENST00000310961,p.S693P|uc001dep.3,p.S688P|NM_020794,p.S688P|ENST00000035383,p.S688P	protein_coding, processed_transcript, nonsense_mediated_decay	uc001dep.3	nonsynonymous SNV	exon18	c.T2062C	p.S688P	HCLNNSVSSGTYSDYSPSQASSGSS	HCLNNSVSSGTYPDYSPSQASSGSS	1.0	7.0	unscreened	-	4037_1:70502195-70502195 T>C_HCLNNSVSSGTYPDYSPSQASSGSS
6:84883797-84883797 T>G	0.0	4037	LUNG	-	-	-	-	CEP162	NM_001286206,p.E636D|uc003pkj.4,p.E636D|NM_014895,p.E712D|uc003pki.4,p.E98D|ENST00000257766,p.E636D|ENST00000403245,p.E712D|uc010kbp.3,p.E712D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kbp.3	nonsynonymous SNV	exon16	c.A2136C	p.E712D	GEKLKQIQKEIQEQETLLQGYQQEN	GEKLKQIQKEIQDQETLLQGYQQEN	3.0	2.0	unscreened	-	4037_6:84883797-84883797 T>G_GEKLKQIQKEIQDQETLLQGYQQEN
9:17747070-17747070 A>G	0.0	4037	LUNG	-	-	-	-	SH3GL2	NM_003026,p.S18G|ENST00000380607,p.S18G|uc003zna.3,p.S18G	protein_coding, processed_transcript	uc003zna.3	nonsynonymous SNV	exon2	c.A52G	p.S18G	LKKQFHKATQKVSEKVGGAEGTKLD	LKKQFHKATQKVGEKVGGAEGTKLD	1.0	6.0	unscreened	-	4037_9:17747070-17747070 A>G_LKKQFHKATQKVGEKVGGAEGTKLD
14:93199060-93199060 T>G	1.0	4037	LUNG	-	-	-	-	LGMN	uc001yav.3,p.E24D|ENST00000393218,p.E24D|ENST00000554080,p.E24D|uc001yau.3,p.E24D|uc001yat.3,p.E24D|uc001yaw.3,p.E24D|ENST00000557609,p.E24D|ENST00000557434,p.E24D|ENST00000554397,p.E24D|ENST00000556097,p.E24D|ENST00000553371,p.E24D|ENST00000553802,p.E24D|ENST00000334869,p.E24D|ENST00000554189,p.E24D|NM_001008530,p.E24D|ENST00000554919,p.E24D|ENST00000555699,p.E24D|NM_005606,p.E24D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001yaw.3	nonsynonymous SNV	exon2	c.A72C	p.E24D	ALGIGAVPIDDPEDGGKHWVVIVAG	ALGIGAVPIDDPDDGGKHWVVIVAG	10.0	4.0	unscreened	-	4037_14:93199060-93199060 T>G_ALGIGAVPIDDPDDGGKHWVVIVAG
10:70516206-70516206 T>G	1.0	4037	LUNG	-	-	-	-	CCAR1	ENST00000265872,p.L601R|uc010qiz.1,p.L586R|NM_018237,p.L601R|ENST00000543719,p.L586R|uc001jom.1,p.L406R|NM_001282960,p.L586R|ENST00000535016,p.L586R|ENST00000539539,p.L586R|uc009xpx.1,p.L575R|uc001jon.1,p.L547R|ENST00000543225,p.L575R|uc010qja.1,p.L586R|NM_001282959,p.L586R|ENST00000536012,p.L406R|uc001joo.3,p.L601R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qja.1	nonsynonymous SNV	exon13	c.T1757G	p.L586R	LSRGYKQQLVEKLQGERKEADGEQD	LSRGYKQQLVEKRQGERKEADGEQD	8.0	4.0	unscreened	-	4037_10:70516206-70516206 T>G_LSRGYKQQLVEKRQGERKEADGEQD
16:3293879-3293879 A>G	0.0	4037	LUNG	-	-	-	-	MEFV	uc021tcb.1,p.W122R	retained_intron, protein_coding, nonsense_mediated_decay	uc021tcb.1	nonsynonymous SNV	exon4	c.T364C	p.W122R	DIGDILHSSGADWRSGTCC	DIGDILHSSGADRRSGTCC	2.0	2.0	unscreened	-	4037_16:3293879-3293879 A>G_DIGDILHSSGADRRSGTCC
19:4524070-4524070 G>C	0.0	4037	LUNG	-	-	-	-	PLIN5	uc002mas.3,p.R288G|NM_001013706,p.R288G|ENST00000381848,p.R288G	retained_intron, protein_coding	uc002mas.3	nonsynonymous SNV	exon8	c.C862G	p.R288G	RSQAELETLVLSRSLTQELQGTVEA	RSQAELETLVLSGSLTQELQGTVEA	2.0	8.0	unscreened	-	4037_19:4524070-4524070 G>C_RSQAELETLVLSGSLTQELQGTVEA
13:32808894-32808894 T>G	0.0	4037	LUNG	-	-	-	-	FRY	uc001utx.3,p.I1904S|ENST00000380250,p.I1904S|NM_023037,p.I1904S|uc010tdw.3,p.I630S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tdw.3	nonsynonymous SNV	exon42	c.T1889G	p.I630S	RLVEVIGEHGDEIQGYVMEALLTLE	RLVEVIGEHGDESQGYVMEALLTLE	5.0	8.0	unscreened	-	4037_13:32808894-32808894 T>G_RLVEVIGEHGDESQGYVMEALLTLE
22:32937686-32937686 T>G	0.0	4037	LUNG	-	-	-	-	SYN3	ENST00000332840,p.N263T|NM_133633,p.N263T|ENST00000358763,p.N263T|uc003amy.3,p.N263T|uc003amz.3,p.N262T|NM_003490,p.N263T|uc003amx.3,p.N263T|NM_001135774,p.N262T	retained_intron, protein_coding, processed_transcript	uc003amz.3	nonsynonymous SNV	exon8	c.A785C	p.N262T	HAHAGMGKIKVENQLDFQDITSVVA	HAHAGMGKIKVETQLDFQDITSVVA	5.0	8.0	unscreened	-	4037_22:32937686-32937686 T>G_HAHAGMGKIKVETQLDFQDITSVVA
11:99715638-99715638 C>A	0.0	4037	LUNG	-	-	-	-	CNTN5	NM_001243271,p.P111Q|ENST00000279463,p.P111Q|uc001pfz.3,p.P111Q|NM_175566,p.P37Q|uc021qpb.1,p.P111Q|ENST00000527185,p.P111Q|NM_001243270,p.P111Q|ENST00000524871,p.P111Q|uc001pga.3,p.P111Q|uc021qpc.1,p.P37Q|NM_014361,p.P111Q|ENST00000528682,p.P111Q|uc009ywv.2,p.P111Q|ENST00000418526,p.P37Q	retained_intron, protein_coding, processed_transcript	uc021qpc.1	nonsynonymous SNV	exon2	c.C110A	p.P37Q	PVFVQEPDDIIFPTDSDEKKVALNC	PVFVQEPDDIIFQTDSDEKKVALNC	2.0	3.0	unscreened	-	4037_11:99715638-99715638 C>A_PVFVQEPDDIIFQTDSDEKKVALNC
2:32463273-32463273 T>C	0.0	4037	LUNG	-	-	-	-	NLRC4	ENST00000360906,p.S817G|uc002roj.2,p.S817G|NM_001199139,p.S817G|ENST00000402280,p.S817G|NM_001199138,p.S817G|ENST00000342905,p.S152G|uc021vfq.1,p.S817G|uc010ezt.2,p.S152G|ENST00000404025,p.S817G|uc002roi.3,p.S817G|NM_021209,p.S817G	protein_coding	uc021vfq.1	nonsynonymous SNV	exon6	c.A2449G	p.S817G	GEGMDYIVKSLSSEPCDLEEIQLVS	GEGMDYIVKSLSGEPCDLEEIQLVS	3.0	3.0	unscreened	-	4037_2:32463273-32463273 T>C_GEGMDYIVKSLSGEPCDLEEIQLVS
5:156712425-156712425 A>T	0.0	4037	LUNG	-	-	-	-	CYFIP2	ENST00000541131,p.E18D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000541131	nonsynonymous SNV	exon1	c.A54T	p.E18D	TLEDALSNVDLLEELPLPNEQPNRV	TLEDALSNVDLLDELPLPNEQPNRV	5.0	8.0	unscreened	-	4037_5:156712425-156712425 A>T_TLEDALSNVDLLDELPLPNEQPNRV
17:10356476-10356476 A>C	0.0	4037	LUNG	-	-	-	-	MYH4	ENST00000255381,p.V1035G|NM_017533,p.V1035G|uc002gmn.3,p.V1035G	protein_coding	uc002gmn.3	nonsynonymous SNV	exon24	c.T3104G	p.V1035G	TLTKAKTKLEQQVDDLEGSLEQEKK	TLTKAKTKLEQQGDDLEGSLEQEKK	1.0	2.0	unscreened	-	4037_17:10356476-10356476 A>C_TLTKAKTKLEQQGDDLEGSLEQEKK
13:46170728-46170728 T>C	0.0	4037	LUNG	-	-	-	-	ERICH6B	ENST00000298738,p.E138G|NM_182542,p.E138G|uc001val.2,p.E138G|uc001vam.1,p.E138G	retained_intron, protein_coding, processed_transcript	uc001vam.1	nonsynonymous SNV	exon2	c.A413G	p.E138G	EYLGKEEHLEEEEYLGKEGYLEKED	EYLGKEEHLEEEGYLGKEGYLEKED	1.0	8.0	unscreened	-	4037_13:46170728-46170728 T>C_EYLGKEEHLEEEGYLGKEGYLEKED
1:12123693-12123693 T>A	0.0	4037	LUNG	-	-	-	-	TNFRSF8	ENST00000514649,p.L13Q	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000514649	nonsynonymous SNV	exon1	c.T38A	p.L13Q	MRVLLAALGLLFLGALRAFPQGCSR	MRVLLAALGLLFQGALRAFPQGCSR	2.0	7.0	unscreened	-	4037_1:12123693-12123693 T>A_MRVLLAALGLLFQGALRAFPQGCSR
12:130648803-130648803 A>C	0.0	4037	LUNG	-	-	-	-	FZD10	ENST00000229030,p.K439T|uc001uii.3,p.K439T|NM_007197,p.K439T	protein_coding	uc001uii.3	nonsynonymous SNV	exon1	c.A1316C	p.K439T	MKTGGENTDKLEKLMVRIGLFSVLY	MKTGGENTDKLETLMVRIGLFSVLY	2.0	7.0	unscreened	-	4037_12:130648803-130648803 A>C_MKTGGENTDKLETLMVRIGLFSVLY
15:24923184-24923184 T>A	0.0	4037	LUNG	-	-	-	-	NPAP1	ENST00000329468,p.Y724N|NM_018958,p.Y724N|uc001ywo.3,p.Y724N	protein_coding	uc001ywo.3	nonsynonymous SNV	exon1	c.T2170A	p.Y724N	QSASVSKKYLPFYLGLPGSGNTQPS	QSASVSKKYLPFNLGLPGSGNTQPS	1.0	5.0	unscreened	-	4037_15:24923184-24923184 T>A_QSASVSKKYLPFNLGLPGSGNTQPS
3:44285426-44285426 A>C	0.0	4037	LUNG	-	-	-	-	TOPAZ1	NM_001145030,p.E476D|uc003cna.4,p.E476D|ENST00000309765,p.E476D	protein_coding	uc003cna.4	nonsynonymous SNV	exon2	c.A1428C	p.E476D	RRSSREDLRSASEELKLSCQRTIPM	RRSSREDLRSASDELKLSCQRTIPM	1.0	5.0	unscreened	-	4037_3:44285426-44285426 A>C_RRSSREDLRSASDELKLSCQRTIPM
8:103573034-103573042 CCCGTGCAG>-	0.0	4037	LUNG	-	-	-	-	ODF1	NM_024410,p.225_228del|uc003ykt.2,p.225_228del|ENST00000285402,p.225_228del|ENST00000518835,p.18_21del	protein_coding	uc003ykt.2	nonframeshift deletion	exon2	c.675_683del	p.225_228del	SPCSPCNPCSPCNPCSPYDPCNPCY	SPCSPCNPCSPCNPYDPCNPCYPCG	1.0	5.0	unscreened	-	4037_8:103573034-103573042 CCCGTGCAG>-_SPCSPCNPCSPCNPYDPCNPCYPCG
1:2433965-2433965 T>G	0.0	4037	LUNG	-	-	-	-	PLCH2	uc001ajk.1,p.S814A|uc001ajj.1,p.S814A|ENST00000449969,p.S999A|ENST00000288766,p.S314A	retained_intron, protein_coding, processed_transcript	uc001ajk.1	nonsynonymous SNV	exon18	c.T2440G	p.S814A	GMAATCMKCVVGSCAGVNTGGLQRE	GMAATCMKCVVGACAGVNTGGLQRE	5.0	8.0	unscreened	-	4037_1:2433965-2433965 T>G_GMAATCMKCVVGACAGVNTGGLQRE
19:14164827-14164827 G>C	0.0	4037	LUNG	-	-	-	-	PALM3	ENST00000340790,p.L538V|NM_001145028,p.L538V|uc010xnk.1,p.L538V	retained_intron, protein_coding	uc010xnk.1	nonsynonymous SNV	exon6	c.C1612G	p.L538V	LETEKTQGTEGDLNLEQGSREGSES	LETEKTQGTEGDVNLEQGSREGSES	4.0	7.0	unscreened	-	4037_19:14164827-14164827 G>C_LETEKTQGTEGDVNLEQGSREGSES
5:33984406-33984406 A>G	0.0	4037	LUNG	-	-	-	-	SLC45A2	uc003jif.4,p.C95R|NM_001297417,p.C95R|ENST00000345083,p.C95R|uc011coe.1,p.C95R|ENST00000342059,p.C95R|uc003jie.3,p.C95R|ENST00000296589,p.C95R|NM_016180,p.C95R|uc003jid.3,p.C95R|ENST00000509381,p.C95R|NM_001012509,p.C95R|ENST00000382102,p.C95R	retained_intron, protein_coding	uc011coe.1	nonsynonymous SNV	exon1	c.T283C	p.C95R	LLQPVVGSASDHCRSRWGRRRPYIL	LLQPVVGSASDHRRSRWGRRRPYIL	1.0	5.0	unscreened	-	4037_5:33984406-33984406 A>G_LLQPVVGSASDHRRSRWGRRRPYIL
5:38438401-38438427 CATGTGAAGCATGACTTCACCTCCGGA>-	0.0	4037	LUNG	-	-	-	-	EGFLAM	uc003jle.2,p.536_544del|ENST00000336740,p.536_544del|ENST00000322350,p.770_778del|ENST00000397202,p.136_144del|uc003jlc.2,p.770_778del|uc003jlb.2,p.770_778del|NM_152403,p.770_778del|NM_001205301,p.770_778del|ENST00000354891,p.770_778del|uc003jlf.2,p.136_144del|NM_182798,p.536_544del	retained_intron, protein_coding, nonsense_mediated_decay	uc003jlf.2	nonframeshift deletion	exon7	c.406_432del	p.136_144del	SIQKIILNDRTIHVKHDFTSGVNVE	SIQKIILNDRTIVNVENAAHPCVRA	5.0	4.0	unscreened	-	4037_5:38438401-38438427 CATGTGAAGCATGACTTCACCTCCGGA>-_SIQKIILNDRTIVNVENAAHPCVRA
7:123517108-123517108 A>C	0.0	4037	LUNG	-	-	-	-	HYAL4	ENST00000476325,p.I449L|NM_012269,p.I449L|ENST00000223026,p.I449L|uc003vlc.3,p.I449L	protein_coding, nonsense_mediated_decay	uc003vlc.3	nonsynonymous SNV	exon5	c.A1345C	p.I449L	CYQGYEGADCREIKTADGCSGVSPS	CYQGYEGADCRELKTADGCSGVSPS	1.0	2.0	unscreened	-	4037_7:123517108-123517108 A>C_CYQGYEGADCRELKTADGCSGVSPS
X:91091029-91091029 T>A	0.0	4037	LUNG	-	-	-	-	PCDH11X	ENST00000298274,p.Y176N|NM_001168360,p.Y176N|uc004efn.2,p.Y176N|uc004efm.2,p.Y176N|ENST00000361655,p.Y176N|uc004efh.2,p.Y176N|ENST00000361724,p.Y176N|NM_032968,p.Y176N|NM_001168361,p.Y176N|ENST00000395337,p.Y176N|NM_001168362,p.Y176N|NM_001168363,p.Y176N|ENST00000406881,p.Y176N|uc004efk.2,p.Y176N|uc004efj.1,p.Y176N|ENST00000373097,p.Y176N|ENST00000373094,p.Y176N|ENST00000373088,p.Y176N|uc004efl.2,p.Y176N|uc004efo.2,p.Y176N|uc010nmv.2,p.Y176N|NM_032969,p.Y176N|ENST00000504220,p.Y176N	protein_coding	uc010nmv.2	nonsynonymous SNV	exon1	c.T526A	p.Y176N	VDPDVGINGVQNYELIKSQNIFGLD	VDPDVGINGVQNNELIKSQNIFGLD	1.0	6.0	unscreened	-	4037_X:91091029-91091029 T>A_VDPDVGINGVQNNELIKSQNIFGLD
17:45925551-45925551 T>C	1.0	4037	LUNG	-	-	-	-	SP6	ENST00000342234,p.E82G|uc002img.2,p.E82G|uc002imh.1,p.E82G|ENST00000536300,p.E82G|uc021tzc.1,p.E82G|NM_001258248,p.E82G|NM_199262,p.E82G	protein_coding	uc021tzc.1	nonsynonymous SNV	exon1	c.A245G	p.E82G	PGASSRVTCEDLESDSPLAPGPFSK	PGASSRVTCEDLGSDSPLAPGPFSK	8.0	8.0	unscreened	-	4037_17:45925551-45925551 T>C_PGASSRVTCEDLGSDSPLAPGPFSK
6:87965301-87965301 G>A	1.0	4037	LUNG	-	-	-	-	ZNF292	ENST00000369577,p.D652N|NM_015021,p.D652N|ENST00000339907,p.D647N|uc003plm.4,p.D652N	protein_coding, processed_transcript	uc003plm.4	nonsynonymous SNV	exon8	c.G1954A	p.D652N	LYSTDFIVFNDNDGSDDENDDKDKS	LYSTDFIVFNDNNGSDDENDDKDKS	8.0	8.0	unscreened	-	4037_6:87965301-87965301 G>A_LYSTDFIVFNDNNGSDDENDDKDKS
1:162829368-162829368 C>G	0.0	4037	LUNG	-	-	-	-	C1orf110	NM_178550,p.Q23H|uc009wux.1,p.Q23H|ENST00000367910,p.Q23H|uc001gck.2,p.Q23H|ENST00000367912,p.Q23H|ENST00000367911,p.Q19H	retained_intron, protein_coding, processed_transcript	uc009wux.1	nonsynonymous SNV	exon2	c.G69C	p.Q23H	YKHFDLERKNAKQAEARLDQRLQRL	YKHFDLERKNAKHAEARLDQRLQRL	1.0	3.0	unscreened	-	4037_1:162829368-162829368 C>G_YKHFDLERKNAKHAEARLDQRLQRL
7:34724202-34724202 T>A	0.0	4037	LUNG	-	-	-	-	NPSR1	NM_001300935,p.F62L|ENST00000381542,p.F62L|uc011kar.1,p.F62L|ENST00000359791,p.F62L|ENST00000396095,p.F62L|ENST00000381553,p.F62L|uc003tei.1,p.F62L|uc010kww.1,p.F62L|ENST00000531252,p.F62L|ENST00000360581,p.F62L|ENST00000381544,p.F62L|NM_207173,p.F62L|NM_001300934,p.F62L|ENST00000465305,p.F62L|NM_001300933,p.F62L|uc010kwv.1,p.F62L|uc003teh.1,p.F62L|NM_207172,p.F62L|ENST00000381539,p.F62L|uc003teg.1,p.F62L	protein_coding, nonsense_mediated_decay	uc011kar.1	nonsynonymous SNV	exon2	c.T186A	p.F62L	TEQLITLWVLFVFTIVGNSVVLFST	TEQLITLWVLFVLTIVGNSVVLFST	1.0	6.0	unscreened	-	4037_7:34724202-34724202 T>A_TEQLITLWVLFVLTIVGNSVVLFST
2:16085858-16085858 C>A	0.0	4037	LUNG	-	-	-	1	MYCN	NM_001293228,p.P345H|uc010yjr.2,p.P345H|NM_001293231,p.P134H|uc002rci.3,p.P345H|NM_005378,p.P345H|ENST00000281043,p.P345H	protein_coding	uc010yjr.2	nonsynonymous SNV	exon2	c.C1034A	p.P345H	AAPSPYVESEDAPPQKKIKSEASPR	AAPSPYVESEDAHPQKKIKSEASPR	2.0	4.0	unscreened	-	4037_2:16085858-16085858 C>A_AAPSPYVESEDAHPQKKIKSEASPR
18:57105354-57105354 T>C	0.0	4037	LUNG	-	-	-	-	CCBE1	uc002lib.3,p.R326G|uc002lia.3,p.R179G|NM_133459,p.R326G|ENST00000398179,p.R55G|ENST00000439986,p.R326G|uc010dpq.3,p.R55G	retained_intron, protein_coding	uc010dpq.3	nonsynonymous SNV	exon4	c.A163G	p.R55G	DGSKGERGAPGPRGSPGPPGSFDFL	DGSKGERGAPGPGGSPGPPGSFDFL	2.0	4.0	unscreened	-	4037_18:57105354-57105354 T>C_DGSKGERGAPGPGGSPGPPGSFDFL
20:42891963-42891963 T>A	0.0	4037	LUNG	-	-	-	-	GDAP1L1	ENST00000342560,p.L214H|uc031rtn.1,p.L125H|NM_001256739,p.L156H|uc010zwl.3,p.L233H|NM_001256738,p.L125H|NM_024034,p.L214H|uc002xlq.4,p.L214H|NM_001256737,p.L233H|uc002xlp.2,p.L214H|ENST00000537864,p.L22H|uc010zwn.3,p.L22H|ENST00000438466,p.L156H|uc010zwm.3,p.L156H	protein_coding	uc031rtn.1	nonsynonymous SNV	exon4	c.T374A	p.L125H	QLSEPYLSKQKKLMAKILEHDDVSY	QLSEPYLSKQKKHMAKILEHDDVSY	1.0	6.0	unscreened	-	4037_20:42891963-42891963 T>A_QLSEPYLSKQKKHMAKILEHDDVSY
3:67058377-67058377 A>C	0.0	4037	LUNG	-	-	-	-	KBTBD8	ENST00000460576,p.K16N|uc011bfv.2,p.K16N	protein_coding, processed_transcript	uc011bfv.2	nonsynonymous SNV	exon2	c.A48C	p.K16N	SAGEFFLFYEPQKDYWGFLTPMTVP	SAGEFFLFYEPQNDYWGFLTPMTVP	4.0	7.0	unscreened	-	4037_3:67058377-67058377 A>C_SAGEFFLFYEPQNDYWGFLTPMTVP
3:67058377-67058377 A>C	0.0	4037	LUNG	-	-	-	-	KBTBD8	ENST00000417314,p.K458N|uc003dmy.3,p.K458N|ENST00000295568,p.K432N|NM_032505,p.K458N	protein_coding, processed_transcript	uc003dmy.3	nonsynonymous SNV	exon4	c.A1374C	p.K458N	LQGEFFLFYEPQKDYWGFLTPMTVP	LQGEFFLFYEPQNDYWGFLTPMTVP	4.0	7.0	unscreened	-	4037_3:67058377-67058377 A>C_LQGEFFLFYEPQNDYWGFLTPMTVP
6:142510664-142510664 A>C	1.0	4037	LUNG	-	-	-	-	VTA1	NM_001286371,p.E171D|uc011edu.2,p.E113D|ENST00000452973,p.E113D|ENST00000367621,p.E113D|NM_016485,p.E171D|NM_001286372,p.E113D|ENST00000367630,p.E171D|uc003qiw.3,p.E171D	protein_coding, processed_transcript	uc011edu.2	nonsynonymous SNV	exon4	c.A339C	p.E113D	GETPQAGPVGIEEDNDIEENEDAGA	GETPQAGPVGIEDDNDIEENEDAGA	9.0	8.0	-	-	4037_6:142510664-142510664 A>C_GETPQAGPVGIEDDNDIEENEDAGA
3:48697901-48697901 A>C	0.0	4037	LUNG	-	-	-	-	CELSR3	uc003cuf.1,p.F793V|ENST00000544264,p.F723V|uc003cul.3,p.F723V|NM_001407,p.F723V|ENST00000164024,p.F723V	retained_intron, protein_coding	uc003cul.3	nonsynonymous SNV	exon1	c.T2167G	p.F723V	SGPLDRESVEHYFFGVEARDHGSPP	SGPLDRESVEHYVFGVEARDHGSPP	4.0	7.0	unscreened	-	4037_3:48697901-48697901 A>C_SGPLDRESVEHYVFGVEARDHGSPP
3:170184877-170184877 A>G	0.0	4037	LUNG	-	-	-	-	SLC7A14	NM_020949,p.I761T|uc003fgz.2,p.I761T|ENST00000231706,p.I761T	protein_coding, processed_transcript	uc003fgz.2	nonsynonymous SNV	exon8	c.T2282C	p.I761T	SKSKHKQNSEALIANDELDYSPE	SKSKHKQNSEALTANDELDYSPE	1.0	8.0	unscreened	-	4037_3:170184877-170184877 A>G_SKSKHKQNSEALTANDELDYSPE
12:130648803-130648803 A>C	0.0	4037	LUNG	-	-	-	-	FZD10	ENST00000539839,p.E406D	protein_coding	ENST00000539839	nonsynonymous SNV	exon1	c.A1218C	p.E406D	DEDGRREHGQAGEAHGAYRALLCAV	DEDGRREHGQAGDAHGAYRALLCAV	2.0	7.0	unscreened	-	4037_12:130648803-130648803 A>C_DEDGRREHGQAGDAHGAYRALLCAV
6:72011414-72011414 A>C	0.0	4037	LUNG	-	-	-	-	OGFRL1	uc003pfx.1,p.T340P|ENST00000370435,p.T340P|NM_024576,p.T340P	protein_coding, processed_transcript	uc003pfx.1	nonsynonymous SNV	exon7	c.A1018C	p.T340P	MSSPLASSHNSQTSMHKKAKDSKNS	MSSPLASSHNSQPSMHKKAKDSKNS	6.0	6.0	unscreened	-	4037_6:72011414-72011414 A>C_MSSPLASSHNSQPSMHKKAKDSKNS
14:73961942-73961942 T>G	0.0	4037	LUNG	-	-	-	-	HEATR4	ENST00000334988,p.E925D|uc021rwe.1,p.E925D|uc021rwf.2,p.E925D|ENST00000553558,p.E925D|ENST00000560393,p.E878D|NM_001220484,p.E925D|NM_203309,p.E925D	protein_coding, processed_transcript	uc021rwf.2	nonsynonymous SNV	exon15	c.A2775C	p.E925D	EQGPLTLQTLLQETFQDEMVLPRRP	EQGPLTLQTLLQDTFQDEMVLPRRP	2.0	7.0	unscreened	-	4037_14:73961942-73961942 T>G_EQGPLTLQTLLQDTFQDEMVLPRRP
1:202568350-202568350 A>C	0.0	4037	LUNG	-	-	-	-	SYT2	uc001gye.3,p.I350S|uc010pqb.2,p.I350S|NM_177402,p.I350S|ENST00000367267,p.I350S|uc009xaf.3,p.I180S|ENST00000367268,p.I350S|NM_001136504,p.I350S	protein_coding	uc010pqb.2	nonsynonymous SNV	exon8	c.T1049G	p.I350S	NESFSFEIPFEQIQKVQVVVTVLDY	NESFSFEIPFEQSQKVQVVVTVLDY	1.0	6.0	unscreened	-	4037_1:202568350-202568350 A>C_NESFSFEIPFEQSQKVQVVVTVLDY
10:123846087-123846087 A>G	1.0	4037	LUNG	-	-	-	-	TACC2	NM_206862,p.S1358G|NM_001291877,p.S1358G|ENST00000453444,p.S1358G|ENST00000515273,p.S1358G|ENST00000334433,p.S1358G|uc009xzx.3,p.S1358G|uc010qtv.2,p.S1358G|NM_001291876,p.S1358G|ENST00000515603,p.S1358G|ENST00000369005,p.S1358G|uc001lfv.3,p.S1358G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qtv.2	nonsynonymous SNV	exon4	c.A4072G	p.S1358G	KAATAPGAGAKASGEGMAGDAAGET	KAATAPGAGAKAGGEGMAGDAAGET	9.0	7.0	unscreened	-	4037_10:123846087-123846087 A>G_KAATAPGAGAKAGGEGMAGDAAGET
7:130020411-130020411 A>C	0.0	4037	LUNG	-	-	-	-	CPA1	ENST00000011292,p.K17T|NM_001868,p.K17T|ENST00000604896,p.K26T|uc003vpx.3,p.K17T|uc003vpw.2,p.K17T	retained_intron, protein_coding	uc003vpx.3	nonsynonymous SNV	exon1	c.A50C	p.K17T	LVLSVLLGAVFGKEDFVGHQVLRIS	LVLSVLLGAVFGTEDFVGHQVLRIS	1.0	3.0	unscreened	-	4037_7:130020411-130020411 A>C_LVLSVLLGAVFGTEDFVGHQVLRIS
1:87043664-87043664 A>C	0.0	4037	LUNG	-	-	-	-	CLCA4	ENST00000370563,p.K677N|uc009wcu.3,p.K497N|uc009wct.3,p.K440N|NM_012128,p.K677N|uc009wcs.3,p.K677N	protein_coding, processed_transcript	uc009wcu.3	nonsynonymous SNV	exon10	c.A1491C	p.K497N	FTAYTENGRYSLKVRAHGGANTARL	FTAYTENGRYSLNVRAHGGANTARL	1.0	3.0	unscreened	-	4037_1:87043664-87043664 A>C_FTAYTENGRYSLNVRAHGGANTARL
1:180775331-180775331 T>A	0.0	4037	LUNG	-	-	-	-	XPR1	uc009wxn.3,p.L194H|ENST00000367590,p.L194H|NM_001135669,p.L194H|uc001goi.3,p.L194H|NM_004736,p.L194H|uc009wxm.2,p.L194H|ENST00000367589,p.L194H	protein_coding, processed_transcript	uc009wxn.3	nonsynonymous SNV	exon5	c.T581A	p.L194H	VAPFYTCKKINQLISETEAVVTNEL	VAPFYTCKKINQHISETEAVVTNEL	6.0	3.0	unscreened	-	4037_1:180775331-180775331 T>A_VAPFYTCKKINQHISETEAVVTNEL
17:62854950-62854950 A>C	0.0	4037	LUNG	-	-	-	-	LRRC37A3	uc002jex.1,p.L563V|ENST00000400877,p.L624V|uc010wqg.1,p.L704V|ENST00000319651,p.L1586V|ENST00000334962,p.L563V|NM_199340,p.L1586V|ENST00000339474,p.L704V|ENST00000584306,p.L1586V|uc002jey.2,p.L1586V|uc010wqf.1,p.L624V	protein_coding, processed_transcript	uc010wqg.1	nonsynonymous SNV	exon9	c.T2110G	p.L704V	PGYGYTKKLILALIVTGILTILIIL	PGYGYTKKLILAVIVTGILTILIIL	5.0	4.0	unscreened	-	4037_17:62854950-62854950 A>C_PGYGYTKKLILAVIVTGILTILIIL
2:167168035-167168035 A>C	0.0	4037	LUNG	-	-	-	-	SCN9A	NM_002977,p.L78V|ENST00000303354,p.L78V|ENST00000375387,p.L78V|uc010fpl.3,p.L78V|ENST00000409435,p.L78V|ENST00000409672,p.L78V	retained_intron, protein_coding	uc010fpl.3	nonsynonymous SNV	exon2	c.T232G	p.L78V	IPPGMVSEPLEDLDPYYADKKTFIV	IPPGMVSEPLEDVDPYYADKKTFIV	1.0	7.0	unscreened	-	4037_2:167168035-167168035 A>C_IPPGMVSEPLEDVDPYYADKKTFIV
9:38578038-38578038 T>A	0.0	4037	LUNG	-	-	-	-	ANKRD18A	ENST00000399703,p.Q785H|NM_147195,p.Q785H|ENST00000602295,p.Q175H|uc004abg.4,p.Q785H|uc004abf.1,p.Q462H	protein_coding, processed_transcript, nonsense_mediated_decay	uc004abg.4	nonsynonymous SNV	exon13	c.A2355T	p.Q785H	VLHQELLSMRNVQEKCEKLEKDKKM	VLHQELLSMRNVHEKCEKLEKDKKM	1.0	6.0	unscreened	-	4037_9:38578038-38578038 T>A_VLHQELLSMRNVHEKCEKLEKDKKM
X:129146574-129146574 A>C	0.0	4037	LUNG	-	-	-	1	BCORL1	NM_021946,p.E36A|uc022cdu.1,p.E36A|ENST00000540052,p.E36A|ENST00000303743,p.E36A|ENST00000359304,p.E36A|ENST00000218147,p.E36A	protein_coding, processed_transcript	uc022cdu.1	nonsynonymous SNV	exon2	c.A107C	p.E36A	GINEERRAPLSDEESTTGDCQHFGS	GINEERRAPLSDAESTTGDCQHFGS	5.0	8.0	unscreened	-	4037_X:129146574-129146574 A>C_GINEERRAPLSDAESTTGDCQHFGS
1:223285001-223285001 T>G	0.0	4037	LUNG	-	-	-	-	TLR5	ENST00000366881,p.N458T|ENST00000342210,p.N458T|NM_003268,p.N458T|uc001hnv.2,p.N458T|ENST00000540964,p.N458T|uc001hnw.2,p.N458T|uc021pjl.1,p.N458T	protein_coding, processed_transcript	uc021pjl.1	nonsynonymous SNV	exon1	c.A1373C	p.N458T	RVPHLQILILNQNRFSSCSGDQTPS	RVPHLQILILNQTRFSSCSGDQTPS	5.0	6.0	unscreened	-	4037_1:223285001-223285001 T>G_RVPHLQILILNQTRFSSCSGDQTPS
20:3296414-3296414 T>G	0.0	4037	LUNG	-	-	-	-	C20orf194	ENST00000453730,p.K258Q|uc002wik.2,p.K194Q|uc002wij.3,p.K259Q|NM_001009984,p.K520Q|ENST00000252032,p.K520Q|uc002wii.3,p.K520Q	protein_coding, processed_transcript	uc002wik.2	nonsynonymous SNV	exon14	c.A580C	p.K194Q	RFCSWLVEDNEVKLSEKTQQAVRGD	RFCSWLVEDNEVQLSEKTQQAVRGD	5.0	5.0	unscreened	-	4037_20:3296414-3296414 T>G_RFCSWLVEDNEVQLSEKTQQAVRGD
12:13715754-13715754 A>T	0.0	4037	LUNG	-	-	-	-	GRIN2B	uc001rbt.2,p.V1473D|NM_000834,p.V1473D|ENST00000279593,p.V1473D	protein_coding	uc001rbt.2	nonsynonymous SNV	exon13	c.T4418A	p.V1473D	NPRAFNGSSNGHVYEKLSSIESDV	NPRAFNGSSNGHDYEKLSSIESDV	1.0	4.0	unscreened	-	4037_12:13715754-13715754 A>T_NPRAFNGSSNGHDYEKLSSIESDV
6:43250810-43250810 T>G	0.0	4037	LUNG	-	-	-	-	TTBK1	uc021yzs.1,p.L66V|ENST00000259750,p.L778V|NM_032538,p.L778V|uc003ouq.1,p.L778V	protein_coding	uc021yzs.1	nonsynonymous SNV	exon1	c.T196G	p.L66V	EEEEEEAAAAVALGEVLGPRSGSSS	EEEEEEAAAAVAVGEVLGPRSGSSS	1.0	5.0	unscreened	-	4037_6:43250810-43250810 T>G_EEEEEEAAAAVAVGEVLGPRSGSSS
7:105264634-105264634 A>T	0.0	4037	LUNG	-	-	-	-	ATXN7L1	ENST00000484475,p.V27D|uc003vdf.2,p.V304D|ENST00000419735,p.V428D|uc003vde.2,p.V428D|NM_020725,p.V428D|ENST00000477775,p.V304D|NM_138495,p.V304D|uc003vdh.4,p.V212D|ENST00000472195,p.V304D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vdh.4	nonsynonymous SNV	exon7	c.T635A	p.V212D	HSGHTPEPPLPPVGGDLASRLSSDE	HSGHTPEPPLPPDGGDLASRLSSDE	5.0	5.0	unscreened	-	4037_7:105264634-105264634 A>T_HSGHTPEPPLPPDGGDLASRLSSDE
3:130128869-130128869 A>C	0.0	4037	LUNG	-	-	-	-	COL6A5	NM_153264,p.N1520T|ENST00000312481,p.N1520T|ENST00000432398,p.N1520T|ENST00000265379,p.N1520T|uc010htj.2,p.N1520T|NM_001278298,p.N1520T|uc010htk.2,p.N1520T	protein_coding, nonsense_mediated_decay	uc010htk.2	nonsynonymous SNV	exon19	c.A4559C	p.N1520T	KGFPGDPGNPGQNNNIKGQKGSKGE	KGFPGDPGNPGQTNNIKGQKGSKGE	1.0	6.0	unscreened	-	4037_3:130128869-130128869 A>C_KGFPGDPGNPGQTNNIKGQKGSKGE
17:26653806-26653806 ->A	0.0	4037	LUNG	-	-	ID=COSM1724347;OCCURENCE=1(NS)	-	TMEM97	ENST00000226230,p.R173fs|ENST00000582384,p.R115fs|NM_014573,p.R173fs|uc002hat.3,p.R173fs|ENST00000583381,p.R66fs|ENST00000336687,p.R66fs	protein_coding	uc002hat.3	frameshift insertion	exon3	c.519dupA	p.R173fs	MLRSPYYKYEEKRKKK	MLRSPYYKYEEKRKKKM	9.0	2.0	unscreened	-	4037_17:26653806-26653806 ->A_MLRSPYYKYEEKRKKKM
9:125681180-125681180 A>C	0.0	4037	LUNG	-	-	-	-	ZBTB26	ENST00000373654,p.L345R|uc022bnc.1,p.L345R|ENST00000373656,p.L345R|uc004bnj.3,p.L345R|NM_020924,p.L345R|uc004bnk.3,p.L345R	protein_coding	uc022bnc.1	nonsynonymous SNV	exon1	c.T1034G	p.L345R	KTFSQKCSLQDHLNLHSGDKPHKCN	KTFSQKCSLQDHRNLHSGDKPHKCN	5.0	6.0	unscreened	-	4037_9:125681180-125681180 A>C_KTFSQKCSLQDHRNLHSGDKPHKCN
5:176004789-176004789 A>G	0.0	4037	LUNG	-	-	-	-	CDHR2	ENST00000261944,p.D501G|ENST00000506348,p.D501G|NM_017675,p.D501G|uc003men.1,p.D501G|NM_001171976,p.D501G|ENST00000510636,p.D501G|uc021yie.1,p.D501G|uc003mem.2,p.D501G	retained_intron, protein_coding, nonsense_mediated_decay	uc021yie.1	nonsynonymous SNV	exon14	c.A1502G	p.D501G	VPEHSATGSVVTDSIHATDPDTGAW	VPEHSATGSVVTGSIHATDPDTGAW	1.0	3.0	unscreened	-	4037_5:176004789-176004789 A>G_VPEHSATGSVVTGSIHATDPDTGAW
2:167083099-167083099 T>C	0.0	4037	LUNG	-	-	-	-	SCN9A	ENST00000375387,p.N1460S|ENST00000409435,p.N1459S|NM_002977,p.N1448S|ENST00000303354,p.N1460S|uc010fpl.3,p.N1448S|ENST00000409672,p.N1448S	retained_intron, protein_coding	uc010fpl.3	nonsynonymous SNV	exon24	c.A4343G	p.N1448S	FTLNLFIGVIIDNFNQQKKKLGGQD	FTLNLFIGVIIDSFNQQKKKLGGQD	1.0	6.0	unscreened	-	4037_2:167083099-167083099 T>C_FTLNLFIGVIIDSFNQQKKKLGGQD
15:65868703-65868703 A>-	1.0	4037	LUNG	-	-	-	-	PTPLAD1	NM_016395,p.K359fs|uc010uiw.2,p.K304fs|ENST00000566511,p.K242fs|ENST00000261875,p.K359fs|ENST00000442729,p.K304fs|ENST00000562901,p.K242fs|ENST00000568793,p.K334fs|uc002apc.3,p.K359fs|ENST00000569894,p.K242fs|ENST00000566074,p.K242fs|ENST00000565299,p.K397fs	retained_intron, protein_coding, processed_transcript, TEC	uc010uiw.2	frameshift deletion	exon10	c.910delA	p.K304fs	YKQRRRRYGQKKKKIH	YKQRRRRYGQKKKRST	10.0	8.0	unscreened	-	4037_15:65868703-65868703 A>-_YKQRRRRYGQKKKRST
7:42003938-42003938 A>C	1.0	4037	LUNG	-	-	-	-	GLI3	uc011kbg.2,p.V1519G|NM_000168,p.V1578G|ENST00000395925,p.V1578G|uc011kbh.2,p.V1578G	retained_intron, protein_coding, processed_transcript	uc011kbh.2	nonsynonymous SNV	exon15	c.T4733G	p.V1578G	LTSLAEESKFLAVMQ	LTSLAEESKFLAGMQ	6.0	6.0	unscreened	-	4037_7:42003938-42003938 A>C_LTSLAEESKFLAGMQ
2:168114468-168114468 A>C	0.0	4037	LUNG	-	-	-	-	XIRP2	ENST00000409728,p.K504T|NM_001199145,p.K249T|uc010fpo.3,p.K471T|ENST00000409043,p.K471T|ENST00000409756,p.K471T|uc010fpn.3,p.K504T|ENST00000420519,p.K504T|ENST00000409605,p.K249T|NM_001199143,p.K504T|uc010fpr.3,p.K249T|NM_001079810,p.K471T	protein_coding	uc010fpr.3	nonsynonymous SNV	exon8	c.A746C	p.K249T	KSKGNYDEGFGHKQHKDRWNCKNQS	KSKGNYDEGFGHTQHKDRWNCKNQS	1.0	4.0	unscreened	-	4037_2:168114468-168114468 A>C_KSKGNYDEGFGHTQHKDRWNCKNQS
2:55571542-55571543 TC>-	0.0	4037	LUNG	-	-	-	-	CCDC88A	uc010yoz.1,p.E383fs|NM_001135597,p.E383fs|ENST00000336838,p.E383fs|ENST00000413716,p.E383fs|uc002ryv.2,p.E383fs|uc010ypb.1,p.E285fs|ENST00000436346,p.E383fs|NM_018084,p.E383fs|NM_001254943,p.E383fs|uc010ypa.1,p.E383fs|ENST00000263630,p.E383fs	retained_intron, protein_coding, processed_transcript	uc010ypb.1	frameshift deletion	exon8	c.855_856del	p.E285fs	RARSDKLHELEKENLQLKAKLHDME	RARSDKLHELEKELTTES	6.0	6.0	unscreened	-	4037_2:55571542-55571543 TC>-_RARSDKLHELEKELTTES
12:111311658-111311658 ->A	0.0	4037	LUNG	-	-	-	-	CCDC63	uc001trv.1,p.E128fs|uc010sye.1,p.E88fs|ENST00000308208,p.E128fs|ENST00000552694,p.E49fs|NM_001286243,p.E88fs|ENST00000545036,p.E88fs|NM_001286244,p.E49fs|uc009zvt.1,p.E43fs|uc001trw.1,p.E43fs|NM_152591,p.E128fs	protein_coding, processed_transcript	uc010sye.1	frameshift insertion	exon4	c.263dupA	p.E88fs	LLAELDEKILQMEKKIANQKQIFAK	LLAELDEKILQMEKKNRKPKTDFRKNAGGQ	1.0	6.0	unscreened	-	4037_12:111311658-111311658 ->A_LLAELDEKILQMEKKNRKPKTDFRKNAGGQ
1:158913651-158913651 A>T	0.0	4037	LUNG	-	-	-	-	PYHIN1	NM_198929,p.K358N|ENST00000392252,p.K349N|NM_152501,p.K358N|uc001ftd.3,p.K358N|NM_198928,p.K349N|ENST00000368138,p.K349N|NM_198930,p.K349N|ENST00000368140,p.K358N|uc001ftb.3,p.K358N|ENST00000392254,p.K358N|uc001ftc.3,p.K349N|uc001fte.3,p.K349N	protein_coding, processed_transcript	uc001fte.3	nonsynonymous SNV	exon6	c.A1047T	p.K349N	IQDKTGSMAVVGKGECHNIPCEKGD	IQDKTGSMAVVGNGECHNIPCEKGD	4.0	6.0	unscreened	-	4037_1:158913651-158913651 A>T_IQDKTGSMAVVGNGECHNIPCEKGD
7:6071069-6071069 A>C	0.0	4037	LUNG	-	-	-	-	ANKRD61	NM_001271700,p.E21D|ENST00000409061,p.E21D|uc031swn.1,p.E21D	protein_coding	uc031swn.1	nonsynonymous SNV	exon1	c.A63C	p.E21D	SRDLVVDSAKSLEDGPSAALHSKLY	SRDLVVDSAKSLDDGPSAALHSKLY	1.0	6.0	unscreened	-	4037_7:6071069-6071069 A>C_SRDLVVDSAKSLDDGPSAALHSKLY
10:105923889-105923889 T>G	0.0	4037	LUNG	-	-	-	-	CFAP43	uc001kxw.3,p.E1070A|ENST00000357060,p.E1070A|uc009xxq.3,p.E378A|ENST00000428666,p.E1071A|NM_025145,p.E1070A	protein_coding, processed_transcript	uc009xxq.3	nonsynonymous SNV	exon10	c.A1133C	p.E378A	EEAVWQPEFEDCEKPERTLVVQDEE	EEAVWQPEFEDCAKPERTLVVQDEE	3.0	5.0	unscreened	-	4037_10:105923889-105923889 T>G_EEAVWQPEFEDCAKPERTLVVQDEE
X:24197436-24197436 A>C	0.0	4037	LUNG	-	-	-	-	ZFX	uc022bua.1,p.Q65H|uc004dbf.3,p.Q65H|uc010nfy.1,p.Q65H|ENST00000428571,p.Q65H|ENST00000379177,p.Q65H|uc011mjv.2,p.Q104H|ENST00000304543,p.Q65H|uc004dbd.2,p.Q65H|NM_001178084,p.Q65H|ENST00000540034,p.Q104H|ENST00000379188,p.Q65H|ENST00000338565,p.Q65H|NM_001178085,p.Q65H|uc004dbe.3,p.Q65H|NM_001178095,p.Q65H|NM_003410,p.Q65H	protein_coding, processed_transcript	uc022bua.1	nonsynonymous SNV	exon3	c.A195C	p.Q65H	NFVPDDPDSVVIQDVIEDVVIEDVQ	NFVPDDPDSVVIHDVIEDVVIEDVQ	6.0	5.0	unscreened	-	4037_X:24197436-24197436 A>C_NFVPDDPDSVVIHDVIEDVVIEDVQ
8:103564266-103564266 A>C	0.0	4037	LUNG	-	-	-	-	ODF1	NM_024410,p.E104A|ENST00000285402,p.E104A|uc003ykt.2,p.E104A	protein_coding	uc003ykt.2	nonsynonymous SNV	exon1	c.A311C	p.E104A	RKAIRAIEDEKRELAKLRRTTNRIL	RKAIRAIEDEKRALAKLRRTTNRIL	1.0	7.0	unscreened	-	4037_8:103564266-103564266 A>C_RKAIRAIEDEKRALAKLRRTTNRIL
5:139914963-139914963 C>A	0.0	4037	LUNG	-	-	-	-	ANKHD1,ANKHD1-EIF4EBP3	NM_017747,p.D2289E|ENST00000360839,p.D2289E|ENST00000437495,p.D300E|ENST00000297183,p.D2289E|uc003lfs.2,p.D2289E|ENST00000433049,p.D811E|ENST00000431508,p.D945E|NM_020690,p.D2289E|uc003lfw.3,p.D927E|ENST00000532219,p.D2289E|uc011czh.1,p.D1028E|uc003lfx.1,p.D426E|uc003lfr.3,p.D2289E	retained_intron, protein_coding, processed_transcript	uc011czh.1	nonsynonymous SNV	exon10	c.C3084A	p.D1028E	RVSTSPVGLPSIDPSGSSPSSSSAP	RVSTSPVGLPSIEPSGSSPSSSSAP	9.0	4.0	unscreened	-	4037_5:139914963-139914963 C>A_RVSTSPVGLPSIEPSGSSPSSSSAP
1:159558322-159558322 A>G	0.0	4037	LUNG	-	-	-	-	APCS	uc001ftv.3,p.S166G|ENST00000255040,p.S166G|NM_001639,p.S166G	protein_coding	uc001ftv.3	nonsynonymous SNV	exon2	c.A496G	p.S166G	QEQDSYGGKFDRSQSFVGEIGDLYM	QEQDSYGGKFDRGQSFVGEIGDLYM	1.0	6.0	unscreened	-	4037_1:159558322-159558322 A>G_QEQDSYGGKFDRGQSFVGEIGDLYM
11:57076641-57076641 T>C	1.0	4037	LUNG	-	-	-	-	TNKS1BP1	uc001njs.3,p.S1182G|NM_033396,p.S1182G|uc001njr.3,p.S1182G|ENST00000358252,p.S1182G|uc009ymd.1,p.S633G|ENST00000532437,p.S1182G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009ymd.1	nonsynonymous SNV	exon6	c.A1897G	p.S633G	LEVSSCVGSGGSSEARESAVGQMGW	LEVSSCVGSGGSGEARESAVGQMGW	10.0	5.0	unscreened	-	4037_11:57076641-57076641 T>C_LEVSSCVGSGGSGEARESAVGQMGW
1:50659576-50659576 T>G	0.0	4037	LUNG	-	-	-	-	ELAVL4	ENST00000371824,p.V165G|NM_001294348,p.V170G|ENST00000371823,p.V165G|uc010omz.2,p.V170G|NM_001144776,p.V165G|ENST00000371819,p.V170G|uc001csc.3,p.V165G|uc001csb.2,p.V165G|NM_001144777,p.V168G|NM_021952,p.V165G|NM_001144775,p.V201G|NM_001144774,p.V165G|ENST00000371827,p.V165G|uc001crz.3,p.V165G|ENST00000371821,p.V170G|uc009vyu.3,p.V170G|ENST00000357083,p.V182G|uc001csa.3,p.V182G|uc001cry.3,p.V168G|ENST00000448907,p.V168G	protein_coding, processed_transcript	uc010omz.2	nonsynonymous SNV	exon4	c.T509G	p.V170G	SQYGRIITSRILVDQVTGVSRGVGF	SQYGRIITSRILGDQVTGVSRGVGF	2.0	6.0	unscreened	-	4037_1:50659576-50659576 T>G_SQYGRIITSRILGDQVTGVSRGVGF
8:39468245-39468245 T>C	0.0	4037	LUNG	-	-	-	-	ADAM18	uc003xnh.3,p.M181T|NM_001190956,p.M181T|ENST00000520772,p.M181T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xnh.3	nonsynonymous SNV	exon6	c.T542C	p.M181T	VPLNSQVTVIILML	VPLNSQVTVIILTL	1.0	7.0	unscreened	-	4037_8:39468245-39468245 T>C_VPLNSQVTVIILTL
21:38309593-38309593 A>C	1.0	4037	LUNG	-	-	-	-	HLCS	NM_000411,p.I51S|uc010gnb.3,p.I51S|uc021wjb.1,p.I51S|ENST00000336648,p.I51S|ENST00000399120,p.I51S|ENST00000419461,p.I51S|ENST00000427746,p.I51S|uc010gnc.2,p.I198S|ENST00000448340,p.I51S|uc002yvs.3,p.I51S|NM_001242785,p.I51S|NM_001242784,p.I51S	protein_coding, processed_transcript	uc021wjb.1	nonsynonymous SNV	exon5	c.T152G	p.I51S	QILEPKPEPSLEIKPEQDGMEHVGR	QILEPKPEPSLESKPEQDGMEHVGR	8.0	6.0	unscreened	-	4037_21:38309593-38309593 A>C_QILEPKPEPSLESKPEQDGMEHVGR
8:21929922-21929922 G>T	1.0	4037	LUNG	-	-	-	-	DMTN	uc022asy.1,p.M205I|uc022asv.1,p.M230I|ENST00000432128,p.M230I|ENST00000381470,p.M230I|uc022asw.1,p.M230I|ENST00000523266,p.M230I|uc022asu.1,p.M230I|ENST00000265800,p.M230I|ENST00000358242,p.M230I|ENST00000519907,p.M230I|uc022ass.1,p.M205I|ENST00000517305,p.M230I|ENST00000415253,p.M230I|NM_001114139,p.M205I|NM_001114135,p.M230I|uc011kys.1,p.M190I|NM_001978,p.M230I|NM_001114136,p.M230I|NM_001114137,p.M230I|ENST00000443491,p.M205I|uc022asx.1,p.M230I|NM_001114138,p.M230I|ENST00000523782,p.M205I|ENST00000517600,p.M190I|uc022asr.1,p.M230I|uc022asq.1,p.M230I|uc022ast.1,p.M230I	retained_intron, protein_coding, nonsense_mediated_decay	uc022asy.1	nonsynonymous SNV	exon7	c.G615T	p.M205I	EEEEEDDDSGEEMKALRERQREELS	EEEEEDDDSGEEIKALRERQREELS	6.0	6.0	unscreened	-	4037_8:21929922-21929922 G>T_EEEEEDDDSGEEIKALRERQREELS
7:141885860-141885860 A>G	0.0	4037	LUNG	-	-	-	-	LOC93432	ENST00000477922,p.I1353M|NM_001293626,p.I1353M	retained_intron, protein_coding	NM_001293626	nonsynonymous SNV	exon35	c.A4059G	p.I1353M	FRNSTAAWWKKEIEELYANPREPEK	FRNSTAAWWKKEMEELYANPREPEK	1.0	5.0	unscreened	-	4037_7:141885860-141885860 A>G_FRNSTAAWWKKEMEELYANPREPEK
6:33154379-33154379 T>G	0.0	4037	LUNG	-	-	-	-	COL11A2	uc003oda.3,p.S275R|ENST00000395194,p.S275R|NM_001163771,p.S275R	protein_coding, processed_transcript	uc003oda.3	nonsynonymous SNV	exon5	c.A823C	p.S275R	PQSQVRELGEPPSAAHPREGRHPGI	PQSQVRELGEPPRAAHPREGRHPGI	3.0	7.0	unscreened	-	4037_6:33154379-33154379 T>G_PQSQVRELGEPPRAAHPREGRHPGI
14:77818094-77818094 T>C	0.0	4037	LUNG	-	-	-	-	TMED8	uc001xto.1,p.E40G|ENST00000216468,p.E40G|NM_213601,p.E40G	protein_coding	uc001xto.1	nonsynonymous SNV	exon2	c.A119G	p.E40G	CQGVEGSQAAASENEDLENKDTSLL	CQGVEGSQAAASGNEDLENKDTSLL	6.0	3.0	unscreened	-	4037_14:77818094-77818094 T>C_CQGVEGSQAAASGNEDLENKDTSLL
11:67925618-67925618 T>C	1.0	4037	LUNG	-	-	-	-	SUV420H1	NM_017635,p.D732G|ENST00000304363,p.D732G|uc009yse.1,p.D318G|uc001onm.1,p.D732G|uc001onn.1,p.D560G|NM_001300907,p.D560G|NM_001300908,p.D492G|uc009ysf.2,p.D492G	retained_intron, protein_coding, nonsense_mediated_decay	uc009ysf.2	nonsynonymous SNV	exon11	c.A1475G	p.D492G	LRRRHDSSSKTNDQENDGMNSSKIS	LRRRHDSSSKTNGQENDGMNSSKIS	8.0	5.0	unscreened	-	4037_11:67925618-67925618 T>C_LRRRHDSSSKTNGQENDGMNSSKIS
9:116925047-116925047 A>G	0.0	4037	LUNG	-	-	-	-	COL27A1	ENST00000356083,p.T39A|NM_032888,p.T39A|uc011lxl.2,p.T39A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lxl.2	nonsynonymous SNV	exon2	c.A115G	p.T39A	WILVSFACHLASTQGAPEDVDILQR	WILVSFACHLASAQGAPEDVDILQR	5.0	6.0	unscreened	-	4037_9:116925047-116925047 A>G_WILVSFACHLASAQGAPEDVDILQR
1:222801798-222801798 A>C	1.0	4037	LUNG	-	-	-	-	MIA3	uc009xea.1,p.K248N|NM_198551,p.K412N|ENST00000344441,p.K412N|ENST00000344507,p.K412N|ENST00000344922,p.K412N|uc001hnl.3,p.K412N	protein_coding, processed_transcript	uc009xea.1	nonsynonymous SNV	exon1	c.A744C	p.K248N	TMDLESSSSEEEKEDDDDALVPDSK	TMDLESSSSEEENEDDDDALVPDSK	9.0	7.0	unscreened	-	4037_1:222801798-222801798 A>C_TMDLESSSSEEENEDDDDALVPDSK
5:93812842-93812842 A>G	0.0	4037	LUNG	-	-	-	-	KIAA0825	NM_001145678,p.S401P|ENST00000312498,p.S401P|uc011cuk.2,p.S401P|ENST00000427991,p.S401P|ENST00000513200,p.S401P	retained_intron, protein_coding, processed_transcript	uc011cuk.2	nonsynonymous SNV	exon7	c.T1201C	p.S401P	MEKPRANETNIPSEQSLPGKEATLL	MEKPRANETNIPPEQSLPGKEATLL	2.0	7.0	unscreened	-	4037_5:93812842-93812842 A>G_MEKPRANETNIPPEQSLPGKEATLL
14:50074602-50074602 T>G	0.0	4037	LUNG	-	-	-	-	LRR1	ENST00000298288,p.L256R|NM_152329,p.L256R|uc001wwn.3,p.L256R|uc010ank.3,p.L197R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ank.3	nonsynonymous SNV	exon4	c.T590G	p.L197R	QFCQLQELKNLKLDDNELIQFPCKI	QFCQLQELKNLKRDDNELIQFPCKI	7.0	5.0	unscreened	-	4037_14:50074602-50074602 T>G_QFCQLQELKNLKRDDNELIQFPCKI
16:49856589-49856589 T>C	0.0	4037	LUNG	-	-	-	-	ZNF423	ENST00000262383,p.K3R|NM_015069,p.K3R|uc031qwd.1,p.K3R|ENST00000561648,p.K3R|ENST00000561874,p.K3R	retained_intron, protein_coding	uc031qwd.1	nonsynonymous SNV	exon1	c.A8G	p.K3R	MHKKRVEEGEASDFS	MHRKRVEEGEASDFS	4.0	3.0	unscreened	-	4037_16:49856589-49856589 T>C_MHRKRVEEGEASDFS
11:116746984-116746984 T>G	0.0	4037	LUNG	-	-	-	-	SIK3	ENST00000542607,p.K302N|ENST00000446921,p.K360N|uc001pqa.3,p.K302N|NM_001281749,p.K360N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001pqa.3	nonsynonymous SNV	exon8	c.A906C	p.K302N	DVLLAMEDMGLDKEQTLQAEQAGTA	DVLLAMEDMGLDNEQTLQAEQAGTA	6.0	5.0	unscreened	-	4037_11:116746984-116746984 T>G_DVLLAMEDMGLDNEQTLQAEQAGTA
20:60318656-60318656 A>C	0.0	4037	LUNG	-	-	-	-	CDH4	ENST00000360469,p.Q69H|NM_001252338,p.Q32H|uc002ybn.2,p.Q69H|uc002ybr.2,p.Q32H|NM_001794,p.Q69H	protein_coding	uc002ybr.2	nonsynonymous SNV	exon2	c.A96C	p.Q32H	VKFSSCVGTKGTQYETNSMDFKVGA	VKFSSCVGTKGTHYETNSMDFKVGA	1.0	6.0	unscreened	-	4037_20:60318656-60318656 A>C_VKFSSCVGTKGTHYETNSMDFKVGA
12:52912740-52912740 A>G	1.0	4037	LUNG	-	-	-	-	KRT5	ENST00000549420,p.F144L|ENST00000252242,p.F254L|uc001san.3,p.F254L|NM_000424,p.F254L|uc009zmh.3,p.F254L	retained_intron, protein_coding	uc009zmh.3	nonsynonymous SNV	exon2	c.T760C	p.F254L	SELRNMQDLVEDFKNKYEDEINKRT	SELRNMQDLVEDLKNKYEDEINKRT	7.0	4.0	unscreened	-	4037_12:52912740-52912740 A>G_SELRNMQDLVEDLKNKYEDEINKRT
17:3324453-3324453 T>G	0.0	4037	LUNG	-	-	-	-	OR3A3	NM_012373,p.C198G|uc010vrd.2,p.C198G|ENST00000291231,p.C198G	protein_coding	uc010vrd.2	nonsynonymous SNV	exon1	c.T592G	p.C198G	FYCDLPQLFQLSCSSTQLNELLLFV	FYCDLPQLFQLSGSSTQLNELLLFV	1.0	5.0	unscreened	-	4037_17:3324453-3324453 T>G_FYCDLPQLFQLSGSSTQLNELLLFV
5:177031329-177031329 A>G	1.0	4037	LUNG	-	-	-	-	B4GALT7	ENST00000505433,p.E67G|uc003mhy.3,p.E67G|ENST00000029410,p.E67G|NM_007255,p.E67G	retained_intron, protein_coding, nonsense_mediated_decay	uc003mhy.3	nonsynonymous SNV	exon2	c.A200G	p.E67G	GDVARAVRGQGQETSGPPRACPPEP	GDVARAVRGQGQGTSGPPRACPPEP	7.0	6.0	unscreened	-	4037_5:177031329-177031329 A>G_GDVARAVRGQGQGTSGPPRACPPEP
14:92537353-92537353 ->GCTGCTGCTGCTGCTGCT	0.0	4037	LUNG	-	-	-	-	ATXN3	uc021san.1,p.G254delinsEQQQQQR|uc021sal.1,p.G208delinsEQQQQQR|uc021rys.1,p.G208delinsEQQQQQR|NM_001164779,p.G185delinsEQQQQQR|NM_030660,p.G251delinsEQQQQQR|NM_001164780,p.G127delinsEQQQQQR|uc021rzp.1,p.G208delinsEQQQQQR|uc021ryy.1,p.G185delinsEQQQQQR|uc021rze.1,p.G127delinsEQQQQQR|uc021rzo.1,p.G306delinsEQQQQQR|ENST00000503767,p.G291delinsEQQQQQR|NM_004993,p.G306delinsEQQQQQR|uc021ryu.1,p.G255delinsEQQQQQR|uc010twl.2,p.G127delinsEQQQQQR|uc010aug.3,p.G291delinsEQQQQQR|uc001yae.4,p.G208delinsEQQQQQR|uc021ryx.1,p.G236delinsEQQQQQR|ENST00000340660,p.G251delinsEQQQQQR|uc021sae.1,p.G305delinsEQQQQQR|NM_001164781,p.G236delinsEQQQQQR|ENST00000393287,p.G306delinsEQQQQQR|uc001yad.4,p.G251delinsEQQQQQR|ENST00000502250,p.G127delinsEQQQQQR|NM_001127697,p.G255delinsEQQQQQR|NM_001127696,p.G291delinsEQQQQQR|uc021sao.1,p.G240delinsEQQQQQR|uc021sag.1,p.G200delinsEQQQQQR|uc001yac.4,p.G306delinsEQQQQQR|ENST00000429774,p.G299delinsEQQQQQR|ENST00000545170,p.G315delinsEQQQQQR|ENST00000532032,p.G306delinsEQQQQQR|uc021sar.1,p.G148delinsEQQQQQR|uc021rzv.1,p.G261delinsEQQQQQR	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021sar.1	nonframeshift insertion	exon5	c.442_443insAGCAGCAGCAGCAGCAGC	p.G148delinsEQQQQQR	QKQQQQQQQQQQGDLSGQSSHPCER	QKQQQQQQQQQQEQQQQQRDLSGQS	7.0	7.0	unscreened	-	4037_14:92537353-92537353 ->GCTGCTGCTGCTGCTGCT_QKQQQQQQQQQQEQQQQQRDLSGQS
9:78855538-78855538 T>C	0.0	4037	LUNG	-	-	-	-	PCSK5	ENST00000424854,p.V700A|ENST00000545128,p.V1027A|NM_001190482,p.V1027A|uc004akc.2,p.V1027A	protein_coding	uc004akc.2	nonsynonymous SNV	exon24	c.T3080C	p.V1027A	HTCQKLECGQGEVQDPDYEECVPCE	HTCQKLECGQGEAQDPDYEECVPCE	3.0	3.0	unscreened	-	4037_9:78855538-78855538 T>C_HTCQKLECGQGEAQDPDYEECVPCE
19:10793258-10793258 T>A	1.0	4037	LUNG	-	-	-	-	ILF3	ENST00000449870,p.S476T|uc002mpk.2,p.S476T|ENST00000592763,p.S476T|ENST00000250241,p.S476T|NM_153464,p.S476T|uc010xli.1,p.S74T|NM_012218,p.S476T|uc002mpl.2,p.S476T|uc002mpn.3,p.S476T|ENST00000588657,p.S476T|ENST00000407004,p.S476T|ENST00000589998,p.S476T|uc002mpp.3,p.S297T|ENST00000590261,p.S476T|NM_001137673,p.S476T|ENST00000420083,p.S476T|uc002mpm.2,p.S476T|NM_004516,p.S476T|NM_017620,p.S476T|uc002mpo.3,p.S476T|ENST00000318511,p.S476T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xli.1	nonsynonymous SNV	exon5	c.T220A	p.S74T	DMGLPTGAEGRDSSKGEDSAEETEA	DMGLPTGAEGRDTSKGEDSAEETEA	10.0	5.0	unscreened	-	4037_19:10793258-10793258 T>A_DMGLPTGAEGRDTSKGEDSAEETEA
X:154004490-154004490 A>G	1.0	4037	LUNG	-	-	-	-	DKC1	uc010nvf.3,p.D451G|NM_001363,p.D456G|NM_001142463,p.D451G|uc004fmm.3,p.D456G|ENST00000369550,p.D456G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010nvf.3	nonsynonymous SNV	exon14	c.A1352G	p.D451G	TAKRKRESESESDETPPAAPQLIKK	TAKRKRESESESGETPPAAPQLIKK	9.0	5.0	unscreened	-	4037_X:154004490-154004490 A>G_TAKRKRESESESGETPPAAPQLIKK
19:57648269-57648269 T>G	0.0	4037	LUNG	-	-	-	-	ZIM3	uc002qnz.1,p.E71D|ENST00000269834,p.E71D|NM_052882,p.E71D	protein_coding	uc002qnz.1	nonsynonymous SNV	exon4	c.A213C	p.E71D	LRLEQGKEPWLEEEEVLGSGRAEKN	LRLEQGKEPWLEDEEVLGSGRAEKN	1.0	4.0	unscreened	-	4037_19:57648269-57648269 T>G_LRLEQGKEPWLEDEEVLGSGRAEKN
6:84910581-84910581 A>C	0.0	4037	LUNG	-	-	-	-	CEP162	NM_001286206,p.L178R|NM_014895,p.L254R|uc010kbp.3,p.L254R|uc003pkj.4,p.L178R|uc003pkk.2,p.L254R|ENST00000403245,p.L254R|ENST00000257766,p.L178R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kbp.3	nonsynonymous SNV	exon9	c.T761G	p.L254R	LLDSLDSVAEVNLDEQDKITPKPRC	LLDSLDSVAEVNRDEQDKITPKPRC	3.0	5.0	unscreened	-	4037_6:84910581-84910581 A>C_LLDSLDSVAEVNRDEQDKITPKPRC
16:30941518-30941518 C>G	0.0	4037	LUNG	-	-	-	-	FBXL19	ENST00000338343,p.S305C|uc002eaa.2,p.S282C|NM_001282351,p.S13C|ENST00000380310,p.S325C|uc002dzz.1,p.S13C|uc002eab.2,p.S325C|NM_001099784,p.S325C|ENST00000562319,p.S305C|ENST00000471231,p.S13C|ENST00000565690,p.S189C	protein_coding	uc002eab.2	nonsynonymous SNV	exon7	c.C974G	p.S325C	MCQLLERVPDTSSSSSDSDSDSDSS	MCQLLERVPDTSCSSSDSDSDSDSS	6.0	3.0	unscreened	-	4037_16:30941518-30941518 C>G_MCQLLERVPDTSCSSSDSDSDSDSS
5:133496774-133496774 T>G	1.0	4037	LUNG	-	-	-	-	SKP1	ENST00000521216,p.E73D|NM_170679,p.E73D|ENST00000519321,p.E73D|uc003kzd.4,p.E73D|ENST00000353411,p.E73D|ENST00000517625,p.E73D|uc003kzc.4,p.E73D|ENST00000520417,p.E73D|NM_006930,p.E73D|ENST00000522552,p.E73D|ENST00000328392,p.E73D|ENST00000522855,p.E73D	retained_intron, protein_coding, nonsense_mediated_decay	uc003kzd.4	nonsynonymous SNV	exon4	c.A219C	p.E73D	WCTHHKDDPPPPEDDENKEKRTDDI	WCTHHKDDPPPPDDDENKEKRTDDI	10.0	5.0	unscreened	-	4037_5:133496774-133496774 T>G_WCTHHKDDPPPPDDDENKEKRTDDI
11:116746984-116746984 T>G	0.0	4037	LUNG	-	-	-	-	SIK3	uc001ppz.3,p.K201N|NM_025164,p.K360N|ENST00000292055,p.K302N|uc001ppy.3,p.K302N|NM_001281748,p.K201N|ENST00000375300,p.K360N|ENST00000434315,p.K201N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ppz.3	nonsynonymous SNV	exon9	c.A603C	p.K201N	DVLLAMEDMGLDKEQTLQSLRSDAY	DVLLAMEDMGLDNEQTLQSLRSDAY	6.0	5.0	unscreened	-	4037_11:116746984-116746984 T>G_DVLLAMEDMGLDNEQTLQSLRSDAY
1:161160931-161160931 T>G	0.0	4037	LUNG	-	-	-	-	ADAMTS4	NM_005099,p.K837N|ENST00000367996,p.K837N|uc001fyt.4,p.K837N	protein_coding, processed_transcript	uc001fyt.4	nonsynonymous SNV	exon9	c.A2511C	p.K837N	LEILRRRPWAGRK	LEILRRRPWAGRN	6.0	3.0	unscreened	-	4037_1:161160931-161160931 T>G_LEILRRRPWAGRN
3:190573092-190573092 G>T	0.0	4037	LUNG	-	-	-	-	GMNC	NM_001146686,p.Q333K|uc011bsl.1,p.Q333K|ENST00000442080,p.Q333K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bsl.1	nonsynonymous SNV	exon5	c.C997A	p.Q333K	EEGGWKFTWVPKQS	EEGGWKFTWVPKKS	1.0	7.0	unscreened	-	4037_3:190573092-190573092 G>T_EEGGWKFTWVPKKS
6:167585657-167585657 A>G	0.0	4037	LUNG	-	-	-	-	TCP10L2	uc010kkp.3,p.R9G|NM_001145121,p.R9G|ENST00000486697,p.R9G|ENST00000283507,p.R9G|ENST00000366832,p.R9G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kkp.3	nonsynonymous SNV	exon2	c.A25G	p.R9G	MLEGQLEAREPKEGTHPEDPC	MLEGQLEAGEPKEGTHPEDPC	1.0	4.0	unscreened	-	4037_6:167585657-167585657 A>G_MLEGQLEAGEPKEGTHPEDPC
19:51189571-51189571 T>C	0.0	4037	LUNG	-	-	-	-	SHANK1	uc002psw.1,p.S218G|ENST00000293441,p.S834G|NM_016148,p.S834G|ENST00000391814,p.S842G|ENST00000359082,p.S825G|ENST00000391813,p.S221G|uc002psx.1,p.S834G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002psx.1	nonsynonymous SNV	exon20	c.A2500G	p.S834G	LDEILAAAQQTISASESPGPGGLAS	LDEILAAAQQTIGASESPGPGGLAS	3.0	6.0	unscreened	-	4037_19:51189571-51189571 T>C_LDEILAAAQQTIGASESPGPGGLAS
21:33370954-33370954 A>C	0.0	4037	LUNG	-	-	-	-	HUNK	uc002yph.3,p.K534N|NM_014586,p.K534N|ENST00000270112,p.K534N	protein_coding, processed_transcript	uc002yph.3	nonsynonymous SNV	exon11	c.A1602C	p.K534N	PVPPPRTPRIVKKPEPHQPGPGSTG	PVPPPRTPRIVKNPEPHQPGPGSTG	1.0	5.0	unscreened	-	4037_21:33370954-33370954 A>C_PVPPPRTPRIVKNPEPHQPGPGSTG
3:49830734-49830734 T>C	0.0	4037	LUNG	-	-	-	-	CDHR4	ENST00000412678,p.D545G|uc010hkz.3,p.D545G|NM_001007540,p.D545G	protein_coding, processed_transcript, nonsense_mediated_decay	uc010hkz.3	nonsynonymous SNV	exon13	c.A1634G	p.D545G	SCTITIEVEDVNDHAPECEPPFQEL	SCTITIEVEDVNGHAPECEPPFQEL	1.0	6.0	unscreened	-	4037_3:49830734-49830734 T>C_SCTITIEVEDVNGHAPECEPPFQEL
15:73614893-73614893 T>C	0.0	4037	LUNG	-	-	-	-	HCN4	uc002avp.3,p.T1181A|ENST00000261917,p.T1181A|NM_005477,p.T1181A	protein_coding	uc002avp.3	nonsynonymous SNV	exon8	c.A3541G	p.T1181A	GARATSSGGPPLTAGPQREPGARPE	GARATSSGGPPLAAGPQREPGARPE	1.0	5.0	unscreened	-	4037_15:73614893-73614893 T>C_GARATSSGGPPLAAGPQREPGARPE
8:37792621-37792621 T>C	0.0	4037	LUNG	-	-	-	-	GOT1L1	ENST00000518826,p.S89G	protein_coding	ENST00000518826	nonsynonymous SNV	exon3	c.A265G	p.S89G	GTPGSWGHITEQSGTHGYLGLNCKG	GTPGSWGHITEQGGTHGYLGLNCKG	1.0	6.0	unscreened	-	4037_8:37792621-37792621 T>C_GTPGSWGHITEQGGTHGYLGLNCKG
8:37792621-37792621 T>C	0.0	4037	LUNG	-	-	-	-	GOT1L1	uc011lbj.1,p.S348G|ENST00000307599,p.S348G|NM_152413,p.S348G	protein_coding	uc011lbj.1	nonsynonymous SNV	exon8	c.A1042G	p.S348G	GTPGSWGHITEQSGTHGYLGLNSQQ	GTPGSWGHITEQGGTHGYLGLNSQQ	1.0	6.0	unscreened	-	4037_8:37792621-37792621 T>C_GTPGSWGHITEQGGTHGYLGLNSQQ
2:56420026-56420026 A>G	0.0	4037	LUNG	-	-	-	-	CCDC85A	NM_001080433,p.S231G|uc002rzn.3,p.S231G|ENST00000407595,p.S231G	protein_coding	uc002rzn.3	nonsynonymous SNV	exon2	c.A691G	p.S231G	TDSPDHHKHHASSGSPEHLQKPRSE	TDSPDHHKHHASGGSPEHLQKPRSE	3.0	6.0	unscreened	-	4037_2:56420026-56420026 A>G_TDSPDHHKHHASGGSPEHLQKPRSE
8:35583855-35583856 GA>-	0.0	4037	LUNG	-	-	-	-	UNC5D	uc003xjs.2,p.E492fs|ENST00000420357,p.E430fs|uc003xju.2,p.E73fs|ENST00000404895,p.E497fs|uc003xjt.1,p.E255fs|ENST00000453357,p.E492fs|ENST00000287272,p.E428fs|ENST00000416672,p.E502fs|ENST00000449677,p.E73fs|NM_080872,p.E497fs|uc003xjr.2,p.E497fs	retained_intron, protein_coding	uc003xju.2	frameshift deletion	exon2	c.217_218del	p.E73fs	VQSSFMVSLGVSERAEYHGKNHSRT	VQSSFMVSLGVSES	1.0	3.0	unscreened	-	4037_8:35583855-35583856 GA>-_VQSSFMVSLGVSES
1:152191320-152191320 A>G	0.0	4037	LUNG	-	-	-	-	HRNR	NM_001009931,p.S929P|ENST00000368801,p.S929P|uc001ezt.2,p.S929P	protein_coding	uc001ezt.2	nonsynonymous SNV	exon3	c.T2785C	p.S929P	SSSGRHGSGSGQSSGFGHKSSSGQS	SSSGRHGSGSGQPSGFGHKSSSGQS	1.0	5.0	unscreened	-	4037_1:152191320-152191320 A>G_SSSGRHGSGSGQPSGFGHKSSSGQS
11:17428915-17428915 T>C	0.0	4037	LUNG	-	-	-	-	ABCC8	NM_000352,p.E969G|uc001mnc.3,p.E969G|NM_001287174,p.E970G|ENST00000389817,p.E969G|ENST00000302539,p.E970G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001mnc.3	nonsynonymous SNV	exon24	c.A2906G	p.E969G	RAMSSRDGLLQDEEEEEEEAAESEE	RAMSSRDGLLQDGEEEEEEAAESEE	3.0	6.0	unscreened	-	4037_11:17428915-17428915 T>C_RAMSSRDGLLQDGEEEEEEAAESEE
1:33957180-33957180 A>C	0.0	4037	LUNG	-	-	-	-	ZSCAN20	ENST00000373413,p.E387A|uc009vui.3,p.E441A|uc001bxk.2,p.E387A|ENST00000361328,p.E441A	protein_coding, processed_transcript	uc009vui.3	nonsynonymous SNV	exon6	c.A1322C	p.E441A	RLGYSDAEMDEQEEGGWDPEEMAED	RLGYSDAEMDEQAEGGWDPEEMAED	3.0	6.0	unscreened	-	4037_1:33957180-33957180 A>C_RLGYSDAEMDEQAEGGWDPEEMAED
1:33957180-33957180 A>C	0.0	4037	LUNG	-	-	-	-	ZSCAN20	uc001bxj.4,p.E441A|NM_145238,p.E441A	protein_coding, processed_transcript	uc001bxj.4	nonsynonymous SNV	exon6	c.A1322C	p.E441A	RLGDSDAEMDEQEEGGWDPEEMAED	RLGDSDAEMDEQAEGGWDPEEMAED	3.0	6.0	unscreened	-	4037_1:33957180-33957180 A>C_RLGDSDAEMDEQAEGGWDPEEMAED
15:63937203-63937203 T>G	0.0	4037	LUNG	-	-	-	-	HERC1	uc002amp.3,p.E3724D|ENST00000443617,p.E3724D|NM_003922,p.E3724D	retained_intron, protein_coding, nonsense_mediated_decay	uc002amp.3	nonsynonymous SNV	exon57	c.A11172C	p.E3724D	TNVTSAEGWWEQESNCQDGYRKSSG	TNVTSAEGWWEQDSNCQDGYRKSSG	7.0	4.0	unscreened	-	4037_15:63937203-63937203 T>G_TNVTSAEGWWEQDSNCQDGYRKSSG
18:44035962-44035962 A>G	0.0	4037	LUNG	-	-	-	-	RNF165	ENST00000543885,p.K89R|uc002lcb.1,p.K281R|ENST00000269439,p.K281R|uc010dnn.2,p.K89R|uc002lby.1,p.K214R|NM_001256758,p.K89R|NM_152470,p.K281R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dnn.2	nonsynonymous SNV	exon5	c.A266G	p.K89R	KYKKRRPQDGKGKKDEGEESDTDEK	KYKKRRPQDGKGRKDEGEESDTDEK	4.0	6.0	unscreened	-	4037_18:44035962-44035962 A>G_KYKKRRPQDGKGRKDEGEESDTDEK
2:233246072-233246072 A>G	0.0	4037	LUNG	-	-	-	-	ALPP	NM_001632,p.E435G|uc002vsq.3,p.E435G|ENST00000392027,p.E435G	retained_intron, protein_coding	uc002vsq.3	nonsynonymous SNV	exon10	c.A1304G	p.E435G	LKDGARPDVTESESGSPEYRQQSAV	LKDGARPDVTESGSGSPEYRQQSAV	2.0	6.0	unscreened	-	4037_2:233246072-233246072 A>G_LKDGARPDVTESGSGSPEYRQQSAV
10:19739410-19739410 T>A	0.0	4037	LUNG	-	-	-	-	MALRD1	NM_001142308,p.C1674S|ENST00000441070,p.C237S	protein_coding, processed_transcript	NM_001142308	nonsynonymous SNV	exon29	c.T5020A	p.C1674S	GGAAIDDIEFKNCTTVGEISELCPE	GGAAIDDIEFKNSTTVGEISELCPE	1.0	6.0	unscreened	-	4037_10:19739410-19739410 T>A_GGAAIDDIEFKNSTTVGEISELCPE
18:44554703-44554703 A>C	0.0	4037	LUNG	-	rs4986208	-	-	TCEB3C,TCEB3CL	ENST00000330682,p.V504G|uc010xdb.2,p.V504G|NM_001100817,p.V504G|NM_145653,p.V504G	protein_coding	uc010xdb.2	nonsynonymous SNV	exon1	c.T1511G	p.V504G	APSGLGDGDGGSVSGGGSSNRHAAP	APSGLGDGDGGSGSGGGSSNRHAAP	1.0	4.0	unscreened	-	4037_18:44554703-44554703 A>C_APSGLGDGDGGSGSGGGSSNRHAAP
14:101347056-101347056 A>C	0.0	4037	LUNG	-	-	-	-	RTL1	uc010txj.1,p.L1357R|ENST00000534062,p.L1357R|NM_001134888,p.L1357R	protein_coding	uc010txj.1	nonsynonymous SNV	exon1	c.T4070G	p.L1357R	LEELPDEDEDANLD	LEELPDEDEDANRD	1.0	5.0	unscreened	-	4037_14:101347056-101347056 A>C_LEELPDEDEDANRD
7:92764861-92764862 AC>-	0.0	4037	LUNG	-	-	-	-	SAMD9L	uc022ahh.1,p.V141fs|uc010lfc.1,p.V141fs|ENST00000437805,p.V141fs|uc010lfb.1,p.V141fs|ENST00000318238,p.V141fs|ENST00000411955,p.V141fs|uc003umh.1,p.V141fs|uc010lfd.1,p.V141fs|uc003umk.1,p.V141fs|uc003umi.1,p.V141fs|uc003umj.1,p.V141fs|NM_152703,p.V141fs	protein_coding, processed_transcript	uc022ahh.1	frameshift deletion	exon1	c.423_424del	p.V141fs	IKQEESILMKENVLDEVANAKHKKK	IKQEESILMKENVR	7.0	6.0	unscreened	-	4037_7:92764861-92764862 AC>-_IKQEESILMKENVR
9:78790138-78790138 ->AATGG	0.0	4037	LUNG	-	-	-	-	PCSK5	ENST00000376767,p.K665fs|uc004ajy.2,p.K665fs	protein_coding	uc004ajy.2	frameshift insertion	exon14	c.1993_1994insAATGG	p.K665fs	TTWENRMEWNGMKWNGMKWNGMEWN	TTWENRMEWNGMKWNGME	3.0	4.0	unscreened	-	4037_9:78790138-78790138 ->AATGG_TTWENRMEWNGMKWNGME
1:152681825-152681825 T>C	0.0	4037	LUNG	-	-	-	-	LCE4A	ENST00000335535,p.C92R|uc001fak.2,p.C92R|NM_178356,p.C92R|ENST00000368777,p.C92R	protein_coding	uc001fak.2	nonsynonymous SNV	exon1	c.T274C	p.C92R	GSGSGQQSGGSGCCSGGGCC	GSGSGQQSGGSGRCSGGGCC	1.0	5.0	unscreened	-	4037_1:152681825-152681825 T>C_GSGSGQQSGGSGRCSGGGCC
3:63898360-63898360 ->GCA	0.0	4037	LUNG	-	-	-	-	ATXN7	NM_001177387,p.R29delinsRQ|ENST00000538065,p.R29delinsRQ|uc003dlv.3,p.R29delinsRQ|ENST00000398590,p.R29delinsRQ|uc003dlw.4,p.R29delinsRQ|ENST00000487717,p.R29delinsRQ|uc021wzy.1,p.R29delinsRQ|NM_000333,p.R29delinsRQ|ENST00000295900,p.R29delinsRQ	retained_intron, protein_coding, processed_transcript	uc021wzy.1	nonframeshift insertion	exon2	c.86_87insGCA	p.R29delinsRQ	AAAAGGAAAAAARQQQQQQQQQQPP	AAAAGGAAAAAARQQQQQQQQQQQP	6.0	4.0	unscreened	-	4037_3:63898360-63898360 ->GCA_AAAAGGAAAAAARQQQQQQQQQQQP
10:126670381-126670382 CT>-	1.0	4037	LUNG	-	-	-	-	ZRANB1	uc010qug.2,p.L537fs|ENST00000359653,p.L511fs|uc001lic.3,p.L511fs|NM_017580,p.L511fs	protein_coding, processed_transcript	uc010qug.2	frameshift deletion	exon7	c.1609_1610del	p.L537fs	REEQWQEDWAFILSLASQPGASLEQ	REEQWQEDWAFILSC	7.0	6.0	unscreened	-	4037_10:126670381-126670382 CT>-_REEQWQEDWAFILSC
13:28009075-28009076 TG>-	1.0	4037	LUNG	-	-	-	-	GTF3A	NM_002097,p.T259fs|uc001ure.2,p.T259fs|ENST00000381140,p.T259fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ure.2	frameshift deletion	exon7	c.777_778del	p.T259fs	RCPREGCGRTYTTVFNLQSHILSFH	RCPREGCGRTYTTV	10.0	10.0	unscreened	-	4037_13:28009075-28009076 TG>-_RCPREGCGRTYTTV
11:62470011-62470012 CA>-	1.0	4037	LUNG	-	-	-	-	BSCL2	ENST00000448568,p.C74fs|ENST00000301781,p.C138fs|ENST00000360796,p.C138fs|NM_032667,p.C74fs|NM_001122955,p.C138fs|ENST00000403550,p.C74fs|uc009yod.3,p.C138fs|NM_001130702,p.C74fs|uc001nur.4,p.C138fs|ENST00000433053,p.C138fs|ENST00000407022,p.C74fs|ENST00000405837,p.C138fs|uc009yoc.2,p.C74fs|ENST00000278893,p.C74fs|ENST00000524862,p.C138fs|ENST00000421906,p.C74fs|uc001nup.3,p.C74fs|ENST00000533982,p.C74fs|uc001nut.4,p.C138fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009yod.3	frameshift deletion	exon4	c.414_415del	p.C138fs	HLSPVHFYYRTDCDSSTTSLCSFPV	HLSPVHFYYRTD	8.0	7.0	unscreened	-	4037_11:62470011-62470012 CA>-_HLSPVHFYYRTD
8:146107103-146107112 GAGTTGCTTT>-	1.0	4037	LUNG	-	-	-	-	ZNF250	ENST00000292579,p.K491fs|uc010mgg.3,p.K486fs|uc003zeq.4,p.K491fs|uc003zer.4,p.K486fs|NM_021061,p.K491fs|ENST00000417550,p.K486fs|NM_001109689,p.K486fs	retained_intron, protein_coding, nonsense_mediated_decay	uc010mgg.3	frameshift deletion	exon6	c.1456_1465del	p.K486fs	FQCTECGKAFSLKATLIVHLRTHTG	FQCTECGKAFSL	7.0	2.0	unscreened	-	4037_8:146107103-146107112 GAGTTGCTTT>-_FQCTECGKAFSL
X:41075846-41075846 A>G	1.0	4046	OVARIAN	-	-	-	-	USP9X	ENST00000378308,p.Y2009C|NM_001039590,p.Y2009C|uc004dfb.3,p.Y2009C|uc004dfc.3,p.Y2009C|NM_001039591,p.Y2009C|ENST00000324545,p.Y2009C	retained_intron, protein_coding, nonsense_mediated_decay	uc004dfc.3	nonsynonymous SNV	exon35	c.A6026G	p.Y2009C	QFMHNRMQYSMEYFQFMKKLLTCNG	QFMHNRMQYSMECFQFMKKLLTCNG	8.0	6.0	CD8	-	4046_X:41075846-41075846 A>G_QFMHNRMQYSMECFQFMKKLLTCNG
14:65008643-65008643 G>T	1.0	4046	OVARIAN	-	-	-	-	HSPA2	uc001xhj.3,p.G359V|NM_021979,p.G359V|uc001xhk.4,p.G359V|ENST00000394709,p.G359V|ENST00000247207,p.G359V	protein_coding, processed_transcript	uc001xhk.4	nonsynonymous SNV	exon1	c.G1076T	p.G359V	PKIQKLLQDFFNGKELNKSINPDEA	PKIQKLLQDFFNVKELNKSINPDEA	7.0	6.0	-	-	4046_14:65008643-65008643 G>T_PKIQKLLQDFFNVKELNKSINPDEA
1:245530616-245530616 G>C	1.0	4046	OVARIAN	-	-	-	-	KIF26B	uc001ibf.1,p.D316H|NM_018012,p.D316H|uc010pyr.2,p.D116H|uc010pyq.1,p.D316H|ENST00000407071,p.D316H	retained_intron, protein_coding, processed_transcript	uc010pyr.2	nonsynonymous SNV	exon2	c.G346C	p.D116H	LNSVAIQAHQYLDGTWSLSRTNGVT	LNSVAIQAHQYLHGTWSLSRTNGVT	6.0	10.0	-	-	4046_1:245530616-245530616 G>C_LNSVAIQAHQYLHGTWSLSRTNGVT
11:47331149-47331149 A>G	1.0	4046	OVARIAN	-	-	-	-	MADD	ENST00000402192,p.M1322V|uc001nez.2,p.M1279V|NM_130475,p.M1382V|ENST00000349238,p.M1343V|NM_130473,p.M1343V|NM_130471,p.M1300V|ENST00000395344,p.M1276V|NM_130474,p.M1280V|uc009ylo.3,p.M296V|ENST00000405573,p.M192V|NM_003682,p.M1382V|ENST00000395336,p.M1382V|NM_130470,p.M1323V|NM_130472,p.M1280V|ENST00000311027,p.M1382V|NM_130476,p.M1322V|uc001neu.1,p.M1280V|uc001new.2,p.M1322V|uc001net.1,p.M1343V|ENST00000342922,p.M1323V|NM_001135944,p.M1276V|ENST00000406482,p.M1280V|uc001nes.1,p.M1300V|ENST00000402799,p.M1280V|uc009yln.1,p.M1276V|uc001ner.1,p.M1382V|uc001nev.1,p.M1280V|NM_001135943,p.M1279V|uc001nex.2,p.M1382V|ENST00000407859,p.M1300V|uc001neq.2,p.M1323V	retained_intron, protein_coding, processed_transcript	uc009ylo.3	nonsynonymous SNV	exon9	c.A886G	p.M296V	LLATLLHNLISYMLLMKVNKNDIRK	LLATLLHNLISYVLLMKVNKNDIRK	7.0	10.0	-	-	4046_11:47331149-47331149 A>G_LLATLLHNLISYVLLMKVNKNDIRK
9:136338638-136338638 C>A	1.0	4046	OVARIAN	-	-	-	-	SLC2A6	ENST00000371899,p.G374V|uc004cee.3,p.G374V|uc004ceg.3,p.G351V|NM_017585,p.G374V	protein_coding, processed_transcript	uc004ceg.3	nonsynonymous SNV	exon8	c.G1052T	p.G351V	FGPRPLSPNSTAGLESESWGDLAQP	FGPRPLSPNSTAVLESESWGDLAQP	7.0	3.0	-	-	4046_9:136338638-136338638 C>A_FGPRPLSPNSTAVLESESWGDLAQP
4:2932979-2932979 G>C	1.0	4046	OVARIAN	-	-	-	-	MFSD10	uc003gfw.3,p.C379W|ENST00000355443,p.C379W|uc021xks.1,p.C303W|uc003gfz.3,p.C379W|NM_001120,p.C379W|NM_001146069,p.C379W|ENST00000329687,p.C379W|ENST00000514800,p.C379W	retained_intron, protein_coding, nonsense_mediated_decay	uc021xks.1	nonsynonymous SNV	exon9	c.C909G	p.C303W	LLYSFAAAVVVPCLSSVVAGYGSPG	LLYSFAAAVVVPWLSSVVAGYGSPG	10.0	8.0	-	-	4046_4:2932979-2932979 G>C_LLYSFAAAVVVPWLSSVVAGYGSPG
10:99211955-99211955 C>T	1.0	4046	OVARIAN	-	-	-	-	ZDHHC16	ENST00000370842,p.H118Y|uc001knk.3,p.H118Y|NM_001287803,p.H118Y|NM_001287804,p.H118Y|uc001knj.3,p.H118Y|ENST00000352634,p.H118Y|uc001knn.3,p.H118Y|ENST00000414567,p.H118Y|ENST00000370854,p.H118Y|ENST00000370846,p.H118Y|uc010qow.2,p.H118Y|NM_198046,p.H118Y|NM_198044,p.H118Y|ENST00000353979,p.H118Y|NM_198043,p.H118Y|NM_032327,p.H118Y|uc001knl.3,p.H118Y|ENST00000393760,p.H118Y	protein_coding, processed_transcript	uc010qow.2	nonsynonymous SNV	exon4	c.C352T	p.H118Y	ILRTYSVPRLCWHFFYSHWNLILIV	ILRTYSVPRLCWYFFYSHWNLILIV	10.0	9.0	-	-	4046_10:99211955-99211955 C>T_ILRTYSVPRLCWYFFYSHWNLILIV
11:64025995-64025995 C>A	1.0	4046	OVARIAN	-	-	-	-	PLCB3	ENST00000540288,p.L355I|ENST00000279230,p.L355I|uc009ypg.2,p.L355I|uc009yph.2,p.L288I|NM_001184883,p.L288I|uc009ypi.3,p.L355I|NM_000932,p.L355I|ENST00000325234,p.L288I	retained_intron, protein_coding	uc009ypi.3	nonsynonymous SNV	exon11	c.C1063A	p.L355I	GTSSVEMYRQALLWGCRCVELDVWK	GTSSVEMYRQALIWGCRCVELDVWK	8.0	6.0	-	-	4046_11:64025995-64025995 C>A_GTSSVEMYRQALIWGCRCVELDVWK
15:41961612-41961612 G>C	1.0	4046	OVARIAN	-	-	-	-	MGA	ENST00000570161,p.V174L|ENST00000389936,p.V174L|NM_001080541,p.V174L|NM_001164273,p.V174L|uc010ucy.2,p.V174L|ENST00000566718,p.V174L|ENST00000566586,p.V174L|ENST00000219905,p.V174L|uc001zog.1,p.V174L|uc010ucz.2,p.V174L|ENST00000563576,p.V174L|ENST00000545763,p.V174L	retained_intron, protein_coding, processed_transcript	uc010ucz.2	nonsynonymous SNV	exon2	c.G520C	p.V174L	SPSTGHYWMHQPVSFYKLKLTNNTL	SPSTGHYWMHQPLSFYKLKLTNNTL	6.0	7.0	-	-	4046_15:41961612-41961612 G>C_SPSTGHYWMHQPLSFYKLKLTNNTL
19:7621408-7621408 G>T	1.0	4046	OVARIAN	-	-	-	-	PNPLA6	uc010xjp.2,p.A990S|uc002mgq.2,p.A1017S|NM_006702,p.A1017S|uc002mgr.2,p.A1017S|NM_001166113,p.A1017S|NM_001166111,p.A1065S|ENST00000450331,p.A1017S|NM_001166112,p.A990S|ENST00000414982,p.A1065S|ENST00000221249,p.A1017S|ENST00000545201,p.A990S|ENST00000600737,p.A1055S|NM_001166114,p.A1055S|uc010xjq.2,p.A1065S|uc002mgs.3,p.A1055S	retained_intron, protein_coding, processed_transcript	uc010xjq.2	nonsynonymous SNV	exon27	c.G3193T	p.A1065S	LTYPVTSMFTGSAFNRSIHRVFQDK	LTYPVTSMFTGSSFNRSIHRVFQDK	9.0	9.0	-	-	4046_19:7621408-7621408 G>T_LTYPVTSMFTGSSFNRSIHRVFQDK
19:49845705-49845705 G>C	1.0	4046	OVARIAN	-	-	-	-	TEAD2	NM_003598,p.T407S|uc010yao.3,p.T279S|NM_001256660,p.T411S|NM_001256659,p.T410S|ENST00000598810,p.T411S|uc002pnh.4,p.T411S|NM_001256658,p.T410S|ENST00000593945,p.T411S|ENST00000311227,p.T407S|ENST00000377214,p.T410S|ENST00000539846,p.T279S|uc031rls.1,p.T411S|NM_001256661,p.T411S|uc010emw.4,p.T410S|uc002png.4,p.T410S|ENST00000601519,p.T410S|uc002pni.4,p.T410S|uc002pnj.4,p.T407S|NM_001256662,p.T279S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rls.1	nonsynonymous SNV	exon12	c.C1232G	p.T411S	ERYMMNSVLENFTILQVVTNRDTQE	ERYMMNSVLENFSILQVVTNRDTQE	10.0	10.0	-	-	4046_19:49845705-49845705 G>C_ERYMMNSVLENFSILQVVTNRDTQE
16:8993493-8993493 C>T	1.0	4046	OVARIAN	-	-	-	-	USP7	uc010uyk.1,p.V712I|NM_003470,p.V811I|uc002czk.2,p.V795I|uc010uyj.1,p.V712I|NM_001286457,p.V795I|uc002czl.2,p.V811I|NM_001286458,p.V712I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uyk.1	nonsynonymous SNV	exon23	c.G2134A	p.V712I	CDKTIPNDPGFVVTLSNRMNYFQVA	CDKTIPNDPGFVITLSNRMNYFQVA	9.0	6.0	-	-	4046_16:8993493-8993493 C>T_CDKTIPNDPGFVITLSNRMNYFQVA
8:143623503-143623503 C>T	1.0	4046	OVARIAN	-	-	-	-	BAI1	ENST00000323289,p.P1303L|NM_001702,p.P1303L|uc003ywm.3,p.P1303L|ENST00000517894,p.P1303L	retained_intron, protein_coding, nonsense_mediated_decay	uc003ywm.3	nonsynonymous SNV	exon27	c.C3908T	p.P1303L	SPRYPGGPLPDFPNHSLTLKRDKAP	SPRYPGGPLPDFLNHSLTLKRDKAP	9.0	1.0	-	-	4046_8:143623503-143623503 C>T_SPRYPGGPLPDFLNHSLTLKRDKAP
2:173354273-173354273 C>A	1.0	4046	OVARIAN	-	-	-	-	ITGA6	ENST00000264106,p.P895T|ENST00000442250,p.P895T|uc002uhp.1,p.P856T|ENST00000343713,p.P851T|uc010zdy.1,p.P737T|ENST00000409080,p.P856T|ENST00000409532,p.P737T|NM_001079818,p.P856T|NM_000210,p.P856T|ENST00000375221,p.P895T|ENST00000458358,p.P851T|uc002uho.1,p.P856T|uc010fqm.1,p.P502T|ENST00000264107,p.P856T	retained_intron, protein_coding	uc010zdy.1	nonsynonymous SNV	exon20	c.C2209A	p.P737T	TNLGTATLNIQWPKEISNGKWLLYL	TNLGTATLNIQWTKEISNGKWLLYL	8.0	7.0	-	-	4046_2:173354273-173354273 C>A_TNLGTATLNIQWTKEISNGKWLLYL
17:57682817-57682817 A>T	1.0	4046	OVARIAN	-	-	-	-	DHX40	ENST00000425628,p.Q584L|ENST00000251241,p.Q661L|uc002ixn.2,p.Q661L|ENST00000451169,p.Q613L|NM_024612,p.Q661L|NM_001166301,p.Q584L|uc010woe.2,p.Q584L|uc010wof.2,p.Q176L	retained_intron, protein_coding, nonsense_mediated_decay	uc010wof.2	nonsynonymous SNV	exon6	c.A527T	p.Q176L	PVHIHPSSALHEQETKLEWIIFHEV	PVHIHPSSALHELETKLEWIIFHEV	8.0	4.0	-	-	4046_17:57682817-57682817 A>T_PVHIHPSSALHELETKLEWIIFHEV
X:39932414-39932414 A>T	1.0	4046	OVARIAN	-	-	-	1	BCOR	uc004den.4,p.L729M|ENST00000397354,p.L729M|NM_001123385,p.L729M|uc004deo.4,p.L729M|NM_001123384,p.L729M|ENST00000378455,p.L729M|ENST00000378444,p.L729M|uc004dep.4,p.L729M|ENST00000406200,p.L729M|ENST00000342274,p.L729M|NM_017745,p.L729M|NM_001123383,p.L729M|uc004dem.4,p.L729M|uc004deq.4,p.L729M	retained_intron, protein_coding	uc004deq.4	nonsynonymous SNV	exon4	c.T2185A	p.L729M	QDALGLGMVHPMLIPHTPIEITKEE	QDALGLGMVHPMMIPHTPIEITKEE	7.0	9.0	-	-	4046_X:39932414-39932414 A>T_QDALGLGMVHPMMIPHTPIEITKEE
5:112899589-112899589 A>T	1.0	4046	OVARIAN	-	-	-	-	YTHDC2	NM_022828,p.T826S|ENST00000161863,p.T826S|uc003kqn.3,p.T826S	retained_intron, protein_coding, nonsense_mediated_decay	uc003kqn.3	nonsynonymous SNV	exon20	c.A2476T	p.T826S	KTIDAMDTWEDLTELGYHLADLPVE	KTIDAMDTWEDLSELGYHLADLPVE	6.0	8.0	-	-	4046_5:112899589-112899589 A>T_KTIDAMDTWEDLSELGYHLADLPVE
17:28706152-28706152 G>A	1.0	4046	OVARIAN	-	-	-	-	CPD	ENST00000225719,p.E52K|NM_001304,p.E52K|uc002hfb.2,p.E52K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002hfb.2	nonsynonymous SNV	exon1	c.G154A	p.E52K	TTTTTSAGAEAAEGQFDRYYHEEEL	TTTTTSAGAEAAKGQFDRYYHEEEL	9.0	10.0	-	-	4046_17:28706152-28706152 G>A_TTTTTSAGAEAAKGQFDRYYHEEEL
X:9673066-9673066 C>G	1.0	4046	OVARIAN	-	-	-	-	TBL1X	NM_001139466,p.T383R|NM_005647,p.T383R|uc004css.3,p.T334R|ENST00000407597,p.T383R|NM_001139468,p.T332R|NM_001139467,p.T332R|uc004csr.3,p.T383R|ENST00000380961,p.T332R|uc010ndq.3,p.T383R|ENST00000536365,p.T332R|uc004csq.4,p.T332R|ENST00000424279,p.T332R|ENST00000217964,p.T383R|uc010ndr.3,p.T332R	protein_coding, processed_transcript	uc010ndr.3	nonsynonymous SNV	exon12	c.C995G	p.T332R	SAPALDVDWQNNTTFASCSTDMCIH	SAPALDVDWQNNRTFASCSTDMCIH	7.0	6.0	-	-	4046_X:9673066-9673066 C>G_SAPALDVDWQNNRTFASCSTDMCIH
11:45939291-45939291 C>G	1.0	4046	OVARIAN	-	-	-	-	PEX16	ENST00000533151,p.Q24H|uc001nbu.3,p.Q24H|uc001nbt.3,p.Q24H|NM_004813,p.Q24H|ENST00000529030,p.Q24H|NM_057174,p.Q24H|ENST00000241041,p.Q24H|ENST00000378750,p.Q24H|ENST00000525229,p.Q24H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001nbu.3	nonsynonymous SNV	exon1	c.G72C	p.Q24H	QEYVTRHPAATAQLETAVRGFSYLL	QEYVTRHPAATAHLETAVRGFSYLL	8.0	7.0	-	-	4046_11:45939291-45939291 C>G_QEYVTRHPAATAHLETAVRGFSYLL
19:19748851-19748851 C>A	1.0	4046	OVARIAN	-	-	-	-	GMIP	uc010xrb.2,p.A269S|uc010xrc.2,p.A269S|ENST00000203556,p.A269S|ENST00000587238,p.A269S|NM_001288999,p.A269S|NM_001288998,p.A269S|NM_016573,p.A269S|ENST00000445806,p.A269S|uc002nnd.3,p.A269S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xrc.2	nonsynonymous SNV	exon10	c.G805T	p.A269S	REEAQAKAQEAEALYQACVREANAR	REEAQAKAQEAESLYQACVREANAR	7.0	9.0	-	-	4046_19:19748851-19748851 C>A_REEAQAKAQEAESLYQACVREANAR
20:33440256-33440256 C>T	1.0	4046	OVARIAN	-	-	-	-	GGT7	uc002xay.3,p.G469R|NM_178026,p.G469R|ENST00000336431,p.G469R|uc002xaz.1,p.G486R	protein_coding, processed_transcript	uc002xaz.1	nonsynonymous SNV	exon12	c.G1456A	p.G486R	APAPLLPVYELDGAPTAAQVLIMGP	APAPLLPVYELDRAPTAAQVLIMGP	7.0	4.0	-	-	4046_20:33440256-33440256 C>T_APAPLLPVYELDRAPTAAQVLIMGP
8:145668159-145668159 A>G	1.0	4046	OVARIAN	-	-	-	-	TONSL	ENST00000409379,p.M160T|NM_013432,p.M160T|uc011llg.2,p.M160T	retained_intron, protein_coding	uc011llg.2	nonsynonymous SNV	exon5	c.T479C	p.M160T	LEGTLAQGELNEMRTRLYLNLGLTF	LEGTLAQGELNETRTRLYLNLGLTF	8.0	1.0	-	-	4046_8:145668159-145668159 A>G_LEGTLAQGELNETRTRLYLNLGLTF
4:90035222-90035222 T>-	1.0	4046	OVARIAN	-	-	-	-	TIGD2	uc003hsk.3,p.I366fs|ENST00000317005,p.I366fs|NM_145715,p.I366fs	protein_coding	uc003hsk.3	frameshift deletion	exon1	c.1097delT	p.I366fs	KIFWKNLTVLDAIYEVSRAWNMVKS	KIFWKNLTVLDAIMKCQELGTW	6.0	8.0	-	-	4046_4:90035222-90035222 T>-_KIFWKNLTVLDAIMKCQELGTW
1:93682284-93682284 A>T	1.0	4046	OVARIAN	-	-	-	-	CCDC18	ENST00000455267,p.E323V|ENST00000338949,p.E403V|uc009wdl.1,p.E283V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009wdl.1	nonsynonymous SNV	exon6	c.A848T	p.E283V	IVAYSSIAAKNAELEQELMLEAQLE	IVAYSSIAAKNAVLEQELMLEAQLE	6.0	10.0	-	-	4046_1:93682284-93682284 A>T_IVAYSSIAAKNAVLEQELMLEAQLE
9:5968247-5968247 C>A	1.0	4046	OVARIAN	-	-	-	-	KIAA2026	NM_001017969,p.D662Y|ENST00000513355,p.D595Y|uc003zjq.4,p.D662Y|ENST00000381461,p.D662Y|ENST00000399933,p.D662Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc003zjq.4	nonsynonymous SNV	exon3	c.G1984T	p.D662Y	DHPEINCHKVVRDILLEQSLQSHKK	DHPEINCHKVVRYILLEQSLQSHKK	6.0	3.0	-	-	4046_9:5968247-5968247 C>A_DHPEINCHKVVRYILLEQSLQSHKK
13:25671311-25671315 TATGA>-	0.0	4046	OVARIAN	-	-	-	-	PABPC3	uc001upy.3,p.V325fs|ENST00000281589,p.V325fs|NM_030979,p.V325fs	protein_coding	uc001upy.3	frameshift deletion	exon1	c.975_979del	p.V325fs	AFSPFGTITSAKVMMEGGRSKGFGF	AFSPFGTITSAKVGRWSQQRVWFCMFLLPRRSH	5.0	2.0	unscreened	-	4046_13:25671311-25671315 TATGA>-_AFSPFGTITSAKVGRWSQQRVWFCMFLLPRRSH
2:180008467-180008467 C>A	1.0	4046	OVARIAN	-	-	-	-	SESTD1	ENST00000426988,p.W41L|NM_178123,p.W234L|ENST00000428443,p.W234L|uc002uni.4,p.W234L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002uni.4	nonsynonymous SNV	exon9	c.G701T	p.W234L	QRRFNGSDGGVSWSPMDDELLAQPQ	QRRFNGSDGGVSLSPMDDELLAQPQ	7.0	8.0	-	-	4046_2:180008467-180008467 C>A_QRRFNGSDGGVSLSPMDDELLAQPQ
X:9864469-9864487 CCCTGGTCGCGCACCACCT>-	0.0	4046	OVARIAN	-	-	-	-	SHROOM2	uc004csu.1,p.P841fs|NM_001649,p.P841fs|ENST00000380913,p.P841fs	protein_coding, processed_transcript	uc004csu.1	frameshift deletion	exon4	c.2521_2539del	p.P841fs	PRTAGRTCEGTEPWSRTTSLGDSLN	PRTAGRTCEGTEPLGTASTLTAQRRRQGLQTCRGGSAPLQSIRPLGRNRGNLWRPGALGAATQRMTSWM	6.0	1.0	-	-	4046_X:9864469-9864487 CCCTGGTCGCGCACCACCT>-_PRTAGRTCEGTEPLGTASTLTAQRRRQGLQTCRGGSAPLQSIRPLGRNRGNLWRPGALGAATQRMTSWM
2:128046282-128046282 C>A	1.0	4046	OVARIAN	-	-	-	1	ERCC3	ENST00000285398,p.M327I|uc002tog.1,p.M263I|uc002toh.1,p.M327I|uc010flx.1,p.M82I|uc002tof.1,p.M263I|uc002toe.1,p.M82I|NM_000122,p.M327I|ENST00000493187,p.M263I	retained_intron, protein_coding, nonsense_mediated_decay	uc010flx.1	nonsynonymous SNV	exon6	c.G246T	p.M82I	VLRPYQEKSLRKMFGNGRARSGVIV	VLRPYQEKSLRKIFGNGRARSGVIV	9.0	10.0	-	-	4046_2:128046282-128046282 C>A_VLRPYQEKSLRKIFGNGRARSGVIV
1:93682284-93682284 A>T	1.0	4046	OVARIAN	-	-	-	-	CCDC18	ENST00000343253,p.E603V|uc021opx.1,p.E604V|ENST00000401026,p.E604V|ENST00000557479,p.E722V|NM_206886,p.E604V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021opx.1	nonsynonymous SNV	exon13	c.A1811T	p.E604V	IVAYSSIAAKNAELEQELMEKNEKI	IVAYSSIAAKNAVLEQELMEKNEKI	6.0	10.0	-	-	4046_1:93682284-93682284 A>T_IVAYSSIAAKNAVLEQELMEKNEKI
2:113888646-113888646 A>T	1.0	4046	OVARIAN	-	-	-	-	IL1RN	uc002tiy.3,p.E43V|NM_173841,p.E80V|NM_000577,p.E59V|ENST00000259206,p.E80V|ENST00000409930,p.E77V|uc002tja.3,p.E59V|uc002tiz.3,p.E80V|NM_173842,p.E77V|uc002tjb.3,p.E77V|ENST00000409052,p.E43V|NM_173843,p.E43V|ENST00000354115,p.E59V|ENST00000361779,p.E43V	retained_intron, protein_coding, processed_transcript	uc002tjb.3	nonsynonymous SNV	exon3	c.A230T	p.E77V	VNLEEKIDVVPIEPHALFLGIHGGK	VNLEEKIDVVPIVPHALFLGIHGGK	6.0	8.0	-	-	4046_2:113888646-113888646 A>T_VNLEEKIDVVPIVPHALFLGIHGGK
19:7565915-7565915 G>T	0.0	4046	OVARIAN	-	-	-	-	C19orf45	ENST00000597207,p.M69I|ENST00000361664,p.M69I|uc002mgm.2,p.M69I|ENST00000601176,p.M69I|NM_198534,p.M69I|ENST00000596132,p.M69I	retained_intron, protein_coding, nonsense_mediated_decay	uc002mgm.2	nonsynonymous SNV	exon2	c.G207T	p.M69I	PSLQPPPALLFPMDPRWDREERVSE	PSLQPPPALLFPIDPRWDREERVSE	7.0	6.0	-	-	4046_19:7565915-7565915 G>T_PSLQPPPALLFPIDPRWDREERVSE
X:119066161-119066161 C>-	0.0	4046	OVARIAN	-	-	-	-	NKAP	uc004esh.3,p.K252fs|uc004esg.3,p.K139fs|NM_024528,p.K252fs|ENST00000371410,p.K252fs	protein_coding, processed_transcript	uc004esh.3	frameshift deletion	exon6	c.756delG	p.K252fs	KKKKHRSKKYKKKRSKKSRKESSDS	KKKKHRSKKYKKKGLRRAEKSPVIQALKNPKKSFWKIPGRIEQRLKNHQI	8.0	2.0	-	-	4046_X:119066161-119066161 C>-_KKKKHRSKKYKKKGLRRAEKSPVIQALKNPKKSFWKIPGRIEQRLKNHQI
9:33798546-33798546 G>T	0.0	4046	OVARIAN	-	-	-	-	PRSS3	ENST00000361005,p.A230S|uc022bfu.1,p.A166S|NM_002771,p.A173S|ENST00000342836,p.A187S|uc003ztj.4,p.A230S|ENST00000379405,p.A173S|NM_001197097,p.A187S|NM_007343,p.A230S|uc003ztl.4,p.A173S|NM_001197098,p.A166S|ENST00000429677,p.A166S|uc003zti.4,p.A187S	protein_coding, processed_transcript	uc022bfu.1	nonsynonymous SNV	exon4	c.G496T	p.A166S	LDAPVLTQAECKASYPGKITNSMFC	LDAPVLTQAECKSSYPGKITNSMFC	6.0	3.0	-	-	4046_9:33798546-33798546 G>T_LDAPVLTQAECKSSYPGKITNSMFC
16:15870012-15870012 G>A	0.0	4046	OVARIAN	-	-	-	1	MYH11	ENST00000452625,p.A278V|NM_022844,p.A271V|NM_002474,p.A271V|NM_001040113,p.A278V|ENST00000338282,p.A271V|uc002ddy.3,p.A271V|ENST00000576790,p.A271V|uc002ddv.3,p.A278V|uc010bvg.3,p.A103V|uc002ddx.3,p.A278V|uc002ddw.3,p.A271V|ENST00000300036,p.A271V|NM_001040114,p.A278V|ENST00000396324,p.A278V	retained_intron, protein_coding, processed_transcript	uc010bvg.3	nonsynonymous SNV	exon9	c.C308T	p.A103V	ANIETYLLEKSRAIRQARDERTFHI	ANIETYLLEKSRVIRQARDERTFHI	6.0	6.0	-	-	4046_16:15870012-15870012 G>A_ANIETYLLEKSRVIRQARDERTFHI
3:53694272-53694272 C>G	0.0	4046	OVARIAN	-	-	-	1	CACNA1D	NM_000720,p.R246G|NM_001128840,p.R246G|ENST00000288139,p.R246G|ENST00000422281,p.R246G|NM_001128839,p.R246G|uc003dgu.5,p.R246G|uc003dgy.5,p.R246G|ENST00000350061,p.R246G|uc003dgv.5,p.R246G	retained_intron, protein_coding, processed_transcript	uc003dgy.5	nonsynonymous SNV	exon5	c.C736G	p.R246G	FDVKALRAFRVLRPLRLVSGVPSLQ	FDVKALRAFRVLGPLRLVSGVPSLQ	5.0	9.0	-	-	4046_3:53694272-53694272 C>G_FDVKALRAFRVLGPLRLVSGVPSLQ
1:40236311-40236311 T>G	0.0	4046	OVARIAN	-	-	-	-	OXCT2	uc001ceb.1,p.D206A|ENST00000327582,p.D206A|NM_022120,p.D206A	protein_coding	uc001ceb.1	nonsynonymous SNV	exon1	c.A617C	p.D206A	GDHFLLERAIRADFALVKGWKADRA	GDHFLLERAIRAAFALVKGWKADRA	3.0	2.0	-	-	4046_1:40236311-40236311 T>G_GDHFLLERAIRAAFALVKGWKADRA
22:22892650-22892650 C>T	1.0	4046	OVARIAN	-	-	-	-	PRAME	NM_206956,p.A151T|NM_001291719,p.A135T|ENST00000543184,p.A151T|uc002zwi.3,p.A151T|ENST00000402697,p.A151T|NM_206954,p.A151T|NM_001291716,p.A151T|ENST00000439106,p.A151T|uc002zwf.3,p.A151T|uc002zwh.3,p.A151T|uc002zwg.3,p.A151T|uc002zwk.3,p.A151T|uc010gtr.3,p.A151T|NM_001291715,p.A151T|NM_006115,p.A151T|ENST00000405655,p.A151T|NM_001291717,p.A135T|ENST00000539862,p.A135T|uc011air.2,p.A135T|NM_206953,p.A151T|ENST00000398743,p.A151T|NM_206955,p.A151T|ENST00000398741,p.A151T|uc002zwj.3,p.A151T|ENST00000424204,p.A135T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011air.2	nonsynonymous SNV	exon3	c.G403A	p.A135T	NRASLYSFPEPEAAQPMTKKRKVDG	NRASLYSFPEPETAQPMTKKRKVDG	10.0	4.0	-	-	4046_22:22892650-22892650 C>T_NRASLYSFPEPETAQPMTKKRKVDG
19:19256828-19256828 C>T	0.0	4046	OVARIAN	-	-	-	-	MEF2B,MEF2BNB-MEF2B	uc002nlo.2,p.G258E|uc002nlp.2,p.G258E|ENST00000602424,p.G258E|ENST00000514819,p.G275E|NM_005919,p.G258E|uc010xqo.2,p.G275E|ENST00000444486,p.G258E	 protein_coding,nonsense_mediated_decay,retained_intron	uc010xqo.2	nonsynonymous SNV	exon8	c.G824A	p.G275E	GSFPFLPGGPPVGAEAWARRVPQPA	GSFPFLPGGPPVEAEAWARRVPQPA	6.0	1.0	-	-	4046_19:19256828-19256828 C>T_GSFPFLPGGPPVEAEAWARRVPQPA
11:71850744-71850744 A>T	1.0	4046	OVARIAN	-	-	-	-	FOLR3	ENST00000442948,p.S202C|ENST00000445078,p.S243C|uc001ory.1,p.S245C|ENST00000456237,p.S245C	retained_intron, protein_coding, nonsense_mediated_decay	uc001ory.1	nonsynonymous SNV	exon5	c.A733T	p.S245C	GLWSHSFKVSNYSRGSGRCIQMWFD	GLWSHSFKVSNYCRGSGRCIQMWFD	9.0	5.0	-	-	4046_11:71850744-71850744 A>T_GLWSHSFKVSNYCRGSGRCIQMWFD
10:124378842-124378842 C>T	0.0	4046	OVARIAN	-	-	-	-	DMBT1	ENST00000344338,p.T1606M|uc001lgl.1,p.T1606M|ENST00000368909,p.T1616M|uc021qah.1,p.T988M|NM_017579,p.T1606M|ENST00000338354,p.T1616M|uc001lgm.1,p.T988M|uc001lgk.1,p.T1616M|ENST00000330163,p.T988M|uc009yab.1,p.T319M|ENST00000368956,p.T988M|NM_004406,p.T988M|uc021qag.1,p.T1606M|uc021qaf.1,p.T1616M|NM_007329,p.T1616M|ENST00000368955,p.T1606M|uc009xzz.1,p.T1616M	protein_coding	uc021qah.1	nonsynonymous SNV	exon26	c.C2963T	p.T988M	AGVICSAAQSQSTPRPDTWLTTNLP	AGVICSAAQSQSMPRPDTWLTTNLP	1.0	10.0	-	-	4046_10:124378842-124378842 C>T_AGVICSAAQSQSMPRPDTWLTTNLP
17:57106010-57106010 G>T	1.0	4046	OVARIAN	-	-	-	-	TRIM37	NM_001005207,p.L675I|uc002iwy.4,p.L675I|uc002iwz.4,p.L675I|ENST00000262294,p.L675I|uc002ixa.4,p.L553I|ENST00000376149,p.L553I|uc010woc.2,p.L641I|ENST00000393065,p.L641I|NM_015294,p.L675I|ENST00000393066,p.L675I	retained_intron, protein_coding, nonsense_mediated_decay	uc010woc.2	nonsynonymous SNV	exon18	c.C1921A	p.L641I	QAMWRVPSDLKMLKRLKTQMAEVRC	QAMWRVPSDLKMIKRLKTQMAEVRC	7.0	8.0	-	-	4046_17:57106010-57106010 G>T_QAMWRVPSDLKMIKRLKTQMAEVRC
15:58853128-58853128 A>C	1.0	4046	OVARIAN	-	-	-	-	LIPC	uc010bga.2,p.T373P|ENST00000433326,p.T312P|ENST00000356113,p.T373P|uc002afa.2,p.T373P|ENST00000299022,p.T373P|ENST00000414170,p.T373P|uc010bfz.1,p.T373P|NM_000236,p.T373P|uc010ugy.2,p.T312P|uc010bgb.1,p.T271P	retained_intron, protein_coding	uc010ugy.2	nonsynonymous SNV	exon6	c.A934C	p.T312P	INQTETPIQTTFTMSLLGTKEKMQK	INQTETPIQTTFPMSLLGTKEKMQK	4.0	3.0	-	-	4046_15:58853128-58853128 A>C_INQTETPIQTTFPMSLLGTKEKMQK
1:145281656-145281656 A>T	1.0	4046	OVARIAN	-	rs4649852	-	-	NOTCH2NL	uc031pob.1,p.T196S|ENST00000362074,p.T196S|ENST00000344859,p.T196S|ENST00000369340,p.T196S|uc001emo.2,p.T196S|uc001emm.4,p.T196S|uc001emn.4,p.T196S|ENST00000468030,p.T196S|NM_203458,p.T196S	protein_coding, processed_transcript	uc031pob.1	nonsynonymous SNV	exon5	c.A586T	p.T196S	VPCAPSPCVNGGTCRQTGDFTFECN	VPCAPSPCVNGGSCRQTGDFTFECN	7.0	1.0	unscreened	-	4046_1:145281656-145281656 A>T_VPCAPSPCVNGGSCRQTGDFTFECN
4:90034817-90034817 C>T	1.0	4046	OVARIAN	-	-	-	-	TIGD2	ENST00000317005,p.A231V|uc003hsk.3,p.A231V|NM_145715,p.A231V	protein_coding	uc003hsk.3	nonsynonymous SNV	exon1	c.C692T	p.A231V	GLHKLNLCVVGKAKKPRAFKGTDLS	GLHKLNLCVVGKVKKPRAFKGTDLS	6.0	3.0	-	-	4046_4:90034817-90034817 C>T_GLHKLNLCVVGKVKKPRAFKGTDLS
10:50121996-50121996 T>C	0.0	4046	OVARIAN	-	-	-	-	LRRC18	NM_001006939,p.I69V|ENST00000374160,p.I69V|ENST00000298124,p.I69V|uc001jhe.1,p.I69V|uc001jhd.3,p.I69V	protein_coding	uc001jhe.1	nonsynonymous SNV	exon2	c.A205G	p.I69V	LSRNLIRKIPDSISKFQNLRWLDLH	LSRNLIRKIPDSVSKFQNLRWLDLH	1.0	2.0	-	-	4046_10:50121996-50121996 T>C_LSRNLIRKIPDSVSKFQNLRWLDLH
6:32049863-32049863 C>G	0.0	4046	OVARIAN	-	-	-	-	TNXB	NM_019105,p.G1229A|uc003nzl.2,p.G1229A|ENST00000375244,p.G1229A|ENST00000375247,p.G1229A	retained_intron, protein_coding	uc003nzl.2	nonsynonymous SNV	exon9	c.G3686C	p.G1229A	LDPDHKYRFTLFGIANKKRYGPLTA	LDPDHKYRFTLFAIANKKRYGPLTA	5.0	9.0	-	-	4046_6:32049863-32049863 C>G_LDPDHKYRFTLFAIANKKRYGPLTA
4:2932979-2932979 G>C	1.0	4046	OVARIAN	-	-	-	-	MFSD10	ENST00000507555,p.A343G	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000507555	nonsynonymous SNV	exon10	c.C1028G	p.A343G	CSTPLPPPLWCPACPPWSLAMAHQG	CSTPLPPPLWCPGCPPWSLAMAHQG	10.0	8.0	-	-	4046_4:2932979-2932979 G>C_CSTPLPPPLWCPGCPPWSLAMAHQG
1:18809325-18809325 C>A	0.0	4046	OVARIAN	-	-	-	-	KLHDC7A	uc001bax.3,p.P617Q|NM_152375,p.P617Q|uc009vpg.3,p.P399Q|ENST00000400664,p.P617Q	protein_coding	uc009vpg.3	nonsynonymous SNV	exon1	c.C1196A	p.P399Q	YDPRLDRWDFAPPLPSDTFALAHTA	YDPRLDRWDFAPQLPSDTFALAHTA	4.0	7.0	-	-	4046_1:18809325-18809325 C>A_YDPRLDRWDFAPQLPSDTFALAHTA
9:121929738-121929738 G>A	0.0	4046	OVARIAN	-	-	-	-	BRINP1	uc004bkc.2,p.P637L|ENST00000265922,p.P637L|NM_014618,p.P637L	protein_coding, processed_transcript	uc004bkc.2	nonsynonymous SNV	exon8	c.C1910T	p.P637L	LPTLLRNETGQGPVDLSDPSKRQFY	LPTLLRNETGQGLVDLSDPSKRQFY	1.0	2.0	-	-	4046_9:121929738-121929738 G>A_LPTLLRNETGQGLVDLSDPSKRQFY
6:108985481-108985481 G>A	0.0	4046	OVARIAN	-	rs9635679	-	1	FOXO3	NM_001455,p.S482N|uc011ean.1,p.S262N|ENST00000406360,p.S482N|ENST00000343882,p.S482N|ENST00000540898,p.S262N|uc010kdj.1,p.S262N|NM_201559,p.S482N|uc003psk.2,p.S482N|uc003psm.2,p.S482N	protein_coding	uc011ean.1	nonsynonymous SNV	exon2	c.G785A	p.S262N	LQDLLTSDSLSHSDVMMTQSDPLMS	LQDLLTSDSLSHNDVMMTQSDPLMS	7.0	9.0	unscreened	-	4046_6:108985481-108985481 G>A_LQDLLTSDSLSHNDVMMTQSDPLMS
X:49070706-49070706 G>C	0.0	4046	OVARIAN	-	-	-	-	CACNA1F	NM_001256790,p.F1153L|ENST00000323022,p.F1207L|uc031tjm.1,p.F1153L|uc004dnb.3,p.F1218L|NM_001256789,p.F1207L|NM_005183,p.F1218L|ENST00000376251,p.F1153L|ENST00000376265,p.F1218L|uc010nip.3,p.F1207L	retained_intron, protein_coding, processed_transcript	uc031tjm.1	nonsynonymous SNV	exon30	c.C3459G	p.F1153L	ALAMQHYEQTAPFNYAMDILNMVFT	ALAMQHYEQTAPLNYAMDILNMVFT	3.0	5.0	-	-	4046_X:49070706-49070706 G>C_ALAMQHYEQTAPLNYAMDILNMVFT
5:131289968-131289968 A>T	0.0	4046	OVARIAN	-	-	-	2	ACSL6	NM_001205248,p.F685I|uc003kvw.2,p.F331I|uc003kwa.2,p.F696I|ENST00000379264,p.F710I|ENST00000379240,p.F685I|ENST00000357096,p.F610I|ENST00000379246,p.F696I|NM_001009185,p.F710I|ENST00000544770,p.F594I|NM_001205251,p.F610I|ENST00000543479,p.F685I|uc010jdn.2,p.F700I|ENST00000379272,p.F700I|NM_001205247,p.F675I|ENST00000379244,p.F685I|uc003kvy.2,p.F710I|ENST00000379255,p.F610I|uc003kvz.2,p.F610I|uc003kwb.3,p.F675I|NM_015256,p.F710I|ENST00000296869,p.F710I|uc010jdo.2,p.F685I|uc021ydh.1,p.F610I|ENST00000431707,p.F665I|NM_001205250,p.F696I|uc003kvx.2,p.F710I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ydh.1	nonsynonymous SNV	exon20	c.T1828A	p.F610I	TLKAKRPELREYFKKQIEELYSISM	TLKAKRPELREYIKKQIEELYSISM	2.0	10.0	-	-	4046_5:131289968-131289968 A>T_TLKAKRPELREYIKKQIEELYSISM
X:47028753-47028753 T>C	0.0	4046	OVARIAN	-	-	-	1	RBM10	uc004dhe.2,p.L17P	protein_coding, processed_transcript	uc004dhe.2	nonsynonymous SNV	exon3	c.T50C	p.L17P	VVVVTGLAAMEPLTARRMMVGRTAA	VVVVTGLAAMEPPTARRMMVGRTAA	9.0	5.0	-	-	4046_X:47028753-47028753 T>C_VVVVTGLAAMEPPTARRMMVGRTAA
12:121434576-121434576 G>T	0.0	4046	OVARIAN	-	-	-	1	HNF1A	uc001tze.2,p.G447V|ENST00000543427,p.G330V|ENST00000402929,p.G447V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001tze.2	nonsynonymous SNV	exon6	c.G1340T	p.G447V	VIGKLVGMGGHLGGRLMGQPQNPGA	VIGKLVGMGGHLVGRLMGQPQNPGA	5.0	7.0	-	-	4046_12:121434576-121434576 G>T_VIGKLVGMGGHLVGRLMGQPQNPGA
19:36034575-36034575 C>G	1.0	4046	OVARIAN	-	-	-	-	GAPDHS	ENST00000222286,p.T301R|NM_014364,p.T301R|uc002oaf.1,p.T301R	protein_coding, nonsense_mediated_decay	uc002oaf.1	nonsynonymous SNV	exon9	c.C902G	p.T301R	VTKVIPELKGKLTGMAFRVPTPDVS	VTKVIPELKGKLRGMAFRVPTPDVS	2.0	5.0	-	-	4046_19:36034575-36034575 C>G_VTKVIPELKGKLRGMAFRVPTPDVS
10:106927074-106927074 T>A	0.0	4046	OVARIAN	-	-	-	-	SORCS3	NM_014978,p.M623K|uc001kyi.1,p.M623K|ENST00000369701,p.M623K|ENST00000393176,p.M68K	protein_coding	uc001kyi.1	nonsynonymous SNV	exon13	c.T1868A	p.M623K	VWFLDWGGALVAMKHTPLPVRHLWV	VWFLDWGGALVAKKHTPLPVRHLWV	1.0	8.0	-	-	4046_10:106927074-106927074 T>A_VWFLDWGGALVAKKHTPLPVRHLWV
7:82544065-82544065 C>A	0.0	4046	OVARIAN	-	-	-	-	PCLO	ENST00000437081,p.G1133C|ENST00000423517,p.G4413C|uc003uhx.2,p.G4413C|NM_014510,p.G4413C|ENST00000333891,p.G4413C|uc003uhv.2,p.G4413C|NM_033026,p.G4413C|uc010lec.3,p.G1378C	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lec.3	nonsynonymous SNV	exon2	c.G4132T	p.G1378C	VQQHMREESRTRGYDRDIAFIMDDF	VQQHMREESRTRCYDRDIAFIMDDF	3.0	6.0	-	-	4046_7:82544065-82544065 C>A_VQQHMREESRTRCYDRDIAFIMDDF
1:152128895-152128895 G>A	0.0	4046	OVARIAN	-	-	-	-	RPTN	ENST00000316073,p.A227V|uc001ezs.1,p.A227V|NM_001122965,p.A227V	protein_coding	uc001ezs.1	nonsynonymous SNV	exon3	c.C680T	p.A227V	TSGQAKWQGHIFALNRCEKPIQDSH	TSGQAKWQGHIFVLNRCEKPIQDSH	1.0	3.0	-	-	4046_1:152128895-152128895 G>A_TSGQAKWQGHIFVLNRCEKPIQDSH
12:133312059-133312059 C>T	1.0	4046	OVARIAN	-	-	-	-	ANKLE2	ENST00000337516,p.E545K|uc001ukx.2,p.E545K|NM_015114,p.E545K|ENST00000535036,p.E108K|ENST00000539605,p.E483K|uc001uky.3,p.E483K|ENST00000357997,p.E545K	retained_intron, protein_coding, processed_transcript	uc001uky.3	nonsynonymous SNV	exon8	c.G1447A	p.E483K	EDFRKLWKTPPREKAGFLHHVKKSD	EDFRKLWKTPPRKKAGFLHHVKKSD	10.0	4.0	-	-	4046_12:133312059-133312059 C>T_EDFRKLWKTPPRKKAGFLHHVKKSD
19:42573044-42573044 G>A	0.0	4046	OVARIAN	-	-	-	-	GRIK5,ZNF574	ENST00000222339,p.E61K|uc002osk.4,p.E61K	protein_coding	uc002osk.4	nonsynonymous SNV	exon1	c.G181A	p.E61K	AHRRQRMRLRGTERASLGPGRRLGD	AHRRQRMRLRGTKRASLGPGRRLGD	7.0	4.0	-	-	4046_19:42573044-42573044 G>A_AHRRQRMRLRGTKRASLGPGRRLGD
12:132479475-132479475 C>G	0.0	4046	OVARIAN	-	-	-	-	EP400	NM_015409,p.T934R|ENST00000333577,p.T970R|ENST00000330386,p.T934R|uc001ujm.3,p.T934R|ENST00000332482,p.T897R|ENST00000389561,p.T934R|uc001ujn.3,p.T934R|ENST00000389562,p.T933R	protein_coding, processed_transcript	uc001ujn.3	nonsynonymous SNV	exon12	c.C2801G	p.T934R	EEEANEGVVDHQTELSNLAKEAELP	EEEANEGVVDHQRELSNLAKEAELP	7.0	3.0	-	-	4046_12:132479475-132479475 C>G_EEEANEGVVDHQRELSNLAKEAELP
9:18928412-18928412 C>A	0.0	4046	OVARIAN	-	-	-	-	FAM154A	NM_153707,p.V355F|ENST00000542071,p.V163F|uc010mip.2,p.V163F|ENST00000380534,p.V355F|uc003zni.2,p.V355F|NM_001287049,p.V290F	protein_coding, processed_transcript	uc010mip.2	nonsynonymous SNV	exon3	c.G487T	p.V163F	DYKQWSSMRTEPVKPVPQLDLPTEP	DYKQWSSMRTEPFKPVPQLDLPTEP	1.0	9.0	-	-	4046_9:18928412-18928412 C>A_DYKQWSSMRTEPFKPVPQLDLPTEP
12:132479475-132479475 C>G	0.0	4046	OVARIAN	-	-	-	-	EP400	uc001ujk.3,p.T970R	protein_coding, processed_transcript	uc001ujk.3	nonsynonymous SNV	exon13	c.C2909G	p.T970R	EEEANEGVVDHQTELSNLAKEGRLL	EEEANEGVVDHQRELSNLAKEGRLL	7.0	3.0	-	-	4046_12:132479475-132479475 C>G_EEEANEGVVDHQRELSNLAKEGRLL
1:47016746-47016746 C>T	0.0	4046	OVARIAN	-	-	-	-	KNCN	ENST00000481882,p.A48T	retained_intron, protein_coding, processed_transcript	ENST00000481882	nonsynonymous SNV	exon1	c.G142A	p.A48T	AAAAMGGVFIGAAVLGLLILAYPFL	AAAAMGGVFIGATVLGLLILAYPFL	3.0	5.0	-	-	4046_1:47016746-47016746 C>T_AAAAMGGVFIGATVLGLLILAYPFL
14:105859575-105859575 G>C	1.0	4046	OVARIAN	-	-	-	-	PACS2	uc001yqs.2,p.K743N|uc001yqt.3,p.K818N|ENST00000547217,p.K788N|ENST00000430725,p.K743N|ENST00000551801,p.K19N|ENST00000447393,p.K822N|ENST00000325438,p.K818N|NM_001100913,p.K833N|ENST00000458164,p.K833N|NM_001243127,p.K743N|NM_015197,p.K818N|ENST00000551743,p.K332N|uc001yqu.3,p.K833N	retained_intron, protein_coding	uc001yqu.3	nonsynonymous SNV	exon24	c.G2499C	p.K833N	TKEKNKKVMFLPKKAKDKDVESKSQ	TKEKNKKVMFLPNKAKDKDVESKSQ	10.0	2.0	-	-	4046_14:105859575-105859575 G>C_TKEKNKKVMFLPNKAKDKDVESKSQ
13:25276086-25276086 C>T	0.0	4046	OVARIAN	-	-	-	-	ATP12A	NM_001676,p.T632I|NM_001185085,p.T638I|uc001upp.3,p.T632I|ENST00000218548,p.T638I|ENST00000381946,p.T632I|uc010aaa.3,p.T638I	protein_coding	uc010aaa.3	nonsynonymous SNV	exon14	c.C1913T	p.T638I	KCRSAGIKVIMVTGDHPITAKAIAK	KCRSAGIKVIMVIGDHPITAKAIAK	3.0	2.0	-	-	4046_13:25276086-25276086 C>T_KCRSAGIKVIMVIGDHPITAKAIAK
1:47016746-47016746 C>T	0.0	4046	OVARIAN	-	-	-	-	KNCN	NM_001097611,p.A48T|ENST00000396314,p.A48T|uc009vyh.1,p.A48T	retained_intron, protein_coding, processed_transcript	uc009vyh.1	nonsynonymous SNV	exon1	c.G142A	p.A48T	AAAAMGGVFIGAAVLGSLRIHPHPG	AAAAMGGVFIGATVLGSLRIHPHPG	3.0	5.0	-	-	4046_1:47016746-47016746 C>T_AAAAMGGVFIGATVLGSLRIHPHPG
9:37707498-37707498 G>T	0.0	4046	OVARIAN	-	-	-	-	FRMPD1	uc004aah.1,p.D63Y|ENST00000377765,p.D63Y|NM_014907,p.D63Y|uc004aag.1,p.D63Y|ENST00000539465,p.D63Y	protein_coding	uc004aah.1	nonsynonymous SNV	exon3	c.G187T	p.D63Y	LIPVRHTVKIDKDTLLQDYGFHISE	LIPVRHTVKIDKYTLLQDYGFHISE	4.0	4.0	-	-	4046_9:37707498-37707498 G>T_LIPVRHTVKIDKYTLLQDYGFHISE
17:38907507-38907507 G>T	0.0	4046	OVARIAN	-	-	-	-	KRT25	NM_181534,p.D247E|ENST00000312150,p.D247E|uc002hve.3,p.D247E	protein_coding	uc002hve.3	nonsynonymous SNV	exon4	c.C741A	p.D247E	NVNVEMNAAPGVDLTVLLNNMRAEY	NVNVEMNAAPGVELTVLLNNMRAEY	1.0	8.0	-	-	4046_17:38907507-38907507 G>T_NVNVEMNAAPGVELTVLLNNMRAEY
4:72623770-72623770 T>G	0.0	4046	OVARIAN	-	-	-	-	GC	uc021xpb.1,p.M274L|NM_001204307,p.M293L|uc003hge.3,p.M274L|ENST00000509740,p.M274L|NM_000583,p.M274L|uc010iif.3,p.M293L|ENST00000504199,p.M293L|ENST00000273951,p.M274L|NM_001204306,p.M274L|ENST00000513476,p.M274L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xpb.1	nonsynonymous SNV	exon8	c.A820C	p.M274L	LSKCCESASEDCMAKELPEHTVKLC	LSKCCESASEDCLAKELPEHTVKLC	1.0	7.0	-	-	4046_4:72623770-72623770 T>G_LSKCCESASEDCLAKELPEHTVKLC
20:62836922-62836922 C>G	0.0	4046	OVARIAN	-	-	-	-	MYT1	uc002yii.3,p.L56V|ENST00000536311,p.L56V|ENST00000360149,p.L56V|NM_004535,p.L56V|ENST00000328439,p.L56V|uc002yih.3,p.L56V	protein_coding	uc002yii.3	nonsynonymous SNV	exon6	c.C166G	p.L56V	KYSRHRSLQSCPLAKKRKLEGAEAE	KYSRHRSLQSCPVAKKRKLEGAEAE	3.0	1.0	-	-	4046_20:62836922-62836922 C>G_KYSRHRSLQSCPVAKKRKLEGAEAE
8:139707100-139707100 T>G	0.0	4046	OVARIAN	-	-	-	-	COL22A1	uc011ljo.2,p.E172A|ENST00000435777,p.E872A|ENST00000303045,p.E872A|NM_152888,p.E872A|uc003yvd.3,p.E872A	protein_coding, processed_transcript	uc011ljo.2	nonsynonymous SNV	exon16	c.A515C	p.E172A	HPRMPGEQGPKGEKGDPGLPGEPGL	HPRMPGEQGPKGAKGDPGLPGEPGL	5.0	1.0	unscreened	-	4046_8:139707100-139707100 T>G_HPRMPGEQGPKGAKGDPGLPGEPGL
1:155264390-155264390 A>T	0.0	4046	OVARIAN	-	-	-	-	PKLR	NM_000298,p.V283D|uc001fka.4,p.V252D|NM_181871,p.V252D|ENST00000392414,p.V252D|uc001fkb.4,p.V283D|ENST00000342741,p.V283D	protein_coding, nonsense_mediated_decay	uc001fkb.4	nonsynonymous SNV	exon6	c.T848A	p.V283D	DLRFGVEHGVDIVFASFVRKASDVA	DLRFGVEHGVDIDFASFVRKASDVA	1.0	2.0	-	-	4046_1:155264390-155264390 A>T_DLRFGVEHGVDIDFASFVRKASDVA
15:92459486-92459486 C>G	1.0	4046	OVARIAN	-	-	-	-	SLCO3A1	ENST00000553304,p.D90E|NM_013272,p.D148E|ENST00000318445,p.D148E|uc002bqz.1,p.D90E|uc002bqx.2,p.D148E|ENST00000424469,p.D148E|NM_001145044,p.D148E|uc002bqy.2,p.D148E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bqz.1	nonsynonymous SNV	exon3	c.C270G	p.D90E	EAGEIRWGAEGRDVCAANGSGGDEG	EAGEIRWGAEGREVCAANGSGGDEG	9.0	7.0	-	-	4046_15:92459486-92459486 C>G_EAGEIRWGAEGREVCAANGSGGDEG
1:168511244-168511244 A>T	0.0	4046	OVARIAN	-	-	-	-	XCL2	ENST00000367819,p.L55M|NM_003175,p.L55M|uc001gfn.4,p.L55M	protein_coding	uc001gfn.4	nonsynonymous SNV	exon2	c.T163A	p.L55M	SRIKTYTITEGSLRAVIFITKRGLK	SRIKTYTITEGSMRAVIFITKRGLK	3.0	4.0	-	-	4046_1:168511244-168511244 A>T_SRIKTYTITEGSMRAVIFITKRGLK
8:145057613-145057613 A>G	1.0	4046	OVARIAN	-	-	-	-	PARP10	uc003zal.4,p.F715S|ENST00000525773,p.F727S|uc003zam.2,p.F706S|ENST00000527262,p.F715S|ENST00000524918,p.F706S|uc011lku.2,p.F727S|NM_032789,p.F715S|uc003zak.4,p.F412S|ENST00000313028,p.F715S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lku.2	nonsynonymous SNV	exon7	c.T2180C	p.F727S	TDGKAQLVVHSAFEQDVEELDRALR	TDGKAQLVVHSASEQDVEELDRALR	10.0	5.0	-	-	4046_8:145057613-145057613 A>G_TDGKAQLVVHSASEQDVEELDRALR
7:126341833-126341833 G>T	0.0	4046	OVARIAN	-	-	-	-	GRM8	ENST00000341617,p.T469N|ENST00000405249,p.T469N	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000405249	nonsynonymous SNV	exon7	c.C1406A	p.T469N	GIQMSLPWPTLFTPSFSSSWAVLAL	GIQMSLPWPTLFNPSFSSSWAVLAL	1.0	5.0	-	-	4046_7:126341833-126341833 G>T_GIQMSLPWPTLFNPSFSSSWAVLAL
4:88536010-88536010 ->GATAGCAGTGACAGCAGT	0.0	4046	OVARIAN	-	-	-	-	DSPP	ENST00000282478,p.S732delinsSDSSDSS|uc003hqu.3,p.S732delinsSDSSDSS|NM_014208,p.S732delinsSDSSDSS|ENST00000399271,p.S732delinsSDSSDSS	protein_coding	uc003hqu.3	nonframeshift insertion	exon5	c.2196_2197insGATAGCAGTGACAGCAGT	p.S732delinsSDSSDSS	NSNSSDSDSSNSSDSSDSSNSSDSS	NSNSSDSDSSNSSDSSDSSDSSDSS	1.0	1.0	unscreened	-	4046_4:88536010-88536010 ->GATAGCAGTGACAGCAGT_NSNSSDSDSSNSSDSSDSSDSSDSS
14:24879251-24879251 G>A	1.0	4046	OVARIAN	-	-	-	-	NYNRIN	uc001wpf.4,p.A751T|NM_025081,p.A751T|ENST00000382554,p.A751T	protein_coding, processed_transcript	uc001wpf.4	nonsynonymous SNV	exon4	c.G2251A	p.A751T	FQMEGLLGAWEGAPRQPPRHLQANS	FQMEGLLGAWEGTPRQPPRHLQANS	7.0	2.0	-	-	4046_14:24879251-24879251 G>A_FQMEGLLGAWEGTPRQPPRHLQANS
5:39126167-39126167 C>G	0.0	4046	OVARIAN	-	-	-	-	FYB	ENST00000505428,p.D660H|NM_001243093,p.D670H|ENST00000540520,p.D670H|NM_001465,p.D660H|ENST00000512982,p.D660H|uc011cpl.2,p.D670H|uc003jlt.3,p.D660H	protein_coding, processed_transcript	uc011cpl.2	nonsynonymous SNV	exon12	c.G2008C	p.D670H	WSWGILKMLKGKDDRKKSIREKPKV	WSWGILKMLKGKHDRKKSIREKPKV	6.0	9.0	-	-	4046_5:39126167-39126167 C>G_WSWGILKMLKGKHDRKKSIREKPKV
2:105472940-105472940 G>C	0.0	4046	OVARIAN	-	-	-	-	POU3F3	NM_006236,p.Q324H|ENST00000361360,p.Q324H|uc010ywg.2,p.Q324H	protein_coding	uc010ywg.2	nonsynonymous SNV	exon1	c.G972C	p.Q324H	SDEDTPTSDDLEQFAKQFKQRRIKL	SDEDTPTSDDLEHFAKQFKQRRIKL	1.0	7.0	-	-	4046_2:105472940-105472940 G>C_SDEDTPTSDDLEHFAKQFKQRRIKL
4:88536031-88536031 ->AGCAGCGAT	0.0	4046	OVARIAN	-	-	-	-	DSPP	NM_014208,p.N739delinsNSSD|ENST00000282478,p.N739delinsNSSD|uc003hqu.3,p.N739delinsNSSD|ENST00000399271,p.N739delinsNSSD	protein_coding	uc003hqu.3	nonframeshift insertion	exon5	c.2217_2218insAGCAGCGAT	p.N739delinsNSSD	DSSNSSDSSDSSNSSDSSDSSDSSN	DSSNSSDSSDSSNSSDSSDSSDSSD	1.0	1.0	unscreened	-	4046_4:88536031-88536031 ->AGCAGCGAT_DSSNSSDSSDSSNSSDSSDSSDSSD
19:34263554-34263554 C>G	0.0	4046	OVARIAN	-	-	-	-	CHST8	ENST00000438847,p.I287M|ENST00000434302,p.I287M|uc002nus.4,p.I287M|ENST00000262622,p.I287M|NM_001127896,p.I287M|uc002nut.4,p.I287M|NM_022467,p.I287M|NM_001127895,p.I287M|uc002nuu.3,p.I287M	protein_coding	uc002nuu.3	nonsynonymous SNV	exon4	c.C861G	p.I287M	PNSYYHPVFGKAILARYRANASREA	PNSYYHPVFGKAMLARYRANASREA	2.0	6.0	-	-	4046_19:34263554-34263554 C>G_PNSYYHPVFGKAMLARYRANASREA
3:150421596-150421596 ->TCCTCCTCCACCTCT	0.0	4046	OVARIAN	-	-	-	-	ERICH6	ENST00000474463,p.E30delinsEEVEEE|uc003eyg.3,p.E30delinsEEVEEE|ENST00000295910,p.E30delinsEEVEEE|NM_152394,p.E30delinsEEVEEE	retained_intron, protein_coding	uc003eyg.3	nonframeshift insertion	exon1	c.89_90insAGAGGTGGAGGAGGA	p.E30delinsEEVEEE	QKESEEELEEEEEEEEVEEEEEEVE	QKESEEELEEEEEEVEEEEEEVEEE	3.0	2.0	unscreened	-	4046_3:150421596-150421596 ->TCCTCCTCCACCTCT_QKESEEELEEEEEEVEEEEEEVEEE
7:103138360-103138360 A>T	0.0	4046	OVARIAN	-	-	-	-	RELN	NM_173054,p.W2953R|uc022ajr.1,p.W2953R|ENST00000343529,p.W2953R|ENST00000424685,p.W2953R|ENST00000428762,p.W2953R|NM_005045,p.W2953R|uc010liz.3,p.W2953R|uc022ajq.1,p.W2953R	retained_intron, protein_coding, processed_transcript	uc022ajr.1	nonsynonymous SNV	exon55	c.T8857A	p.W2953R	DLDLRGAKFLQYWGRIGSENNMTSC	DLDLRGAKFLQYRGRIGSENNMTSC	4.0	4.0	-	-	4046_7:103138360-103138360 A>T_DLDLRGAKFLQYRGRIGSENNMTSC
14:63174599-63174599 T>A	0.0	4046	OVARIAN	-	-	-	-	KCNH5	NM_139318,p.D865V|ENST00000322893,p.D865V|uc001xfx.3,p.D865V	protein_coding	uc001xfx.3	nonsynonymous SNV	exon11	c.A2594T	p.D865V	VTKNPLRKTDSCDSGITKSDLRLDK	VTKNPLRKTDSCVSGITKSDLRLDK	1.0	5.0	-	-	4046_14:63174599-63174599 T>A_VTKNPLRKTDSCVSGITKSDLRLDK
21:36171623-36171624 AG>-	1.0	4069	PANCREATIC	-	-	ID=COSM24779;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(breast)	1	RUNX1	uc002yuh.3,p.S287fs|NM_001001890,p.S287fs|uc002yuk.4,p.S314fs|uc010gmu.3,p.S314fs|uc010gmv.3,p.S314fs|NM_001754,p.S314fs|ENST00000325074,p.S302fs|ENST00000437180,p.S314fs|ENST00000344691,p.S287fs|ENST00000399240,p.S223fs|uc002yuj.4,p.S182fs|ENST00000300305,p.S314fs	retained_intron, protein_coding, processed_transcript	uc010gmv.3	frameshift deletion	exon8	c.941_942del	p.S314fs	ISPGRASGMTTLSAELSSRLSTAPD	ISPGRASGMTTLCRTFQSTLNGTRPDSVQRPAPVPRAALHLRPPHALSRRLHLLPDAGHLGHRHRHVGHGLGHALPHLPAAALPRLVASAGRPVPSQLALLPPVLRRLGRLLPVLHGGRRALAAAHPAALHQRLHRLRAAQPQPPEPERRGGGRGQPQQLPHQHGALRAPGGGRVEALL	10.0	7.0	unscreened	-	4069_21:36171623-36171624 AG>-_ISPGRASGMTTLCRTFQSTLNGTRPDSVQRPAPVPRAALHLRPPHALSRRLHLLPDAGHLGHRHRHVGHGLGHALPHLPAAALPRLVASAGRPVPSQLALLPPVLRRLGRLLPVLHGGRRALAAAHPAALHQRLHRLRAAQPQPPEPERRGGGRGQPQQLPHQHGALRAPGGGRVEALL
20:3251129-3251129 G>C	1.0	4069	PANCREATIC	-	-	-	-	C20orf194	uc002wii.3,p.I910M|uc002wik.2,p.I584M|NM_001009984,p.I910M|ENST00000252032,p.I910M|uc002wij.3,p.I649M	protein_coding, processed_transcript	uc002wik.2	nonsynonymous SNV	exon25	c.C1752G	p.I584M	QRHPLLVQLQSLIRAANPAAAFILA	QRHPLLVQLQSLMRAANPAAAFILA	7.0	8.0	-	-	4069_20:3251129-3251129 G>C_QRHPLLVQLQSLMRAANPAAAFILA
14:50081101-50081101 T>G	1.0	4069	PANCREATIC	-	-	-	-	LRR1	uc010ank.3,p.S319A|NM_152329,p.S378A|uc001wwn.3,p.S378A|ENST00000298288,p.S378A	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ank.3	nonsynonymous SNV	exon5	c.T955G	p.S319A	SFIQGTTTMNLHSVAHTVVLVDNLG	SFIQGTTTMNLHAVAHTVVLVDNLG	6.0	6.0	unscreened	-	4069_14:50081101-50081101 T>G_SFIQGTTTMNLHAVAHTVVLVDNLG
7:51096958-51096958 C>T	1.0	4069	PANCREATIC	-	-	-	-	COBL	ENST00000431948,p.R497H|NM_001287436,p.R669H|ENST00000395542,p.R694H|uc003tpr.4,p.R612H|ENST00000445054,p.R504H|uc003tps.3,p.R669H|NM_015198,p.R612H|ENST00000265136,p.R612H|uc003tpo.4,p.R154H|uc003tpq.4,p.R553H|uc003tpp.4,p.R398H|uc011kcl.2,p.R612H	retained_intron, protein_coding	uc011kcl.2	nonsynonymous SNV	exon10	c.G1835A	p.R612H	LHPASHDVGKGIRVALSNISKDGNL	LHPASHDVGKGIHVALSNISKDGNL	8.0	5.0	unscreened	-	4069_7:51096958-51096958 C>T_LHPASHDVGKGIHVALSNISKDGNL
21:36171623-36171624 AG>-	1.0	4069	PANCREATIC	-	-	ID=COSM24779;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(breast)	1	RUNX1	uc002yum.1,p.S118fs|uc002yul.1,p.S79fs	retained_intron, protein_coding, processed_transcript	uc002yum.1	frameshift deletion	exon4	c.353_354del	p.S118fs	ISPGRASGMTTLSAELSSRLSNSCD	ISPGRASGMTTLCRTFQSTLKQL	10.0	7.0	unscreened	-	4069_21:36171623-36171624 AG>-_ISPGRASGMTTLCRTFQSTLKQL
15:52427864-52427864 G>C	0.0	4069	PANCREATIC	-	-	-	-	GNB5	ENST00000358784,p.D197E|uc002abr.1,p.D197E|ENST00000396335,p.D127E|NM_016194,p.D239E|NM_006578,p.D197E|ENST00000558519,p.D54E|uc002abs.1,p.D127E|ENST00000261837,p.D239E|uc002abt.1,p.D239E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002abt.1	nonsynonymous SNV	exon8	c.C717G	p.D239E	GQLLQSFHGHGADVLCLDLAPSETG	GQLLQSFHGHGAEVLCLDLAPSETG	8.0	2.0	unscreened	-	4069_15:52427864-52427864 G>C_GQLLQSFHGHGAEVLCLDLAPSETG
15:44150936-44150936 G>A	1.0	4069	PANCREATIC	-	-	-	-	WDR76	ENST00000381246,p.E429K|uc001zti.2,p.E493K|uc021skg.1,p.E429K|ENST00000263795,p.E493K|NM_001167941,p.E429K|NM_024908,p.E493K	protein_coding, processed_transcript	uc021skg.1	nonsynonymous SNV	exon11	c.G1285A	p.E429K	NSRRSQPLISLTEHTKSIASAYFSP	NSRRSQPLISLTKHTKSIASAYFSP	7.0	6.0	unscreened	-	4069_15:44150936-44150936 G>A_NSRRSQPLISLTKHTKSIASAYFSP
6:30153952-30153952 C>T	1.0	4069	PANCREATIC	-	-	-	-	TRIM26	uc003nps.3,p.V441M|ENST00000437089,p.V441M|ENST00000453195,p.V441M|uc010jry.3,p.V171M|NM_001242783,p.V441M|uc003npt.3,p.V441M|uc003npr.3,p.V441M|ENST00000454678,p.V441M|NM_003449,p.V441M	retained_intron, protein_coding, processed_transcript	uc010jry.3	nonsynonymous SNV	exon9	c.G511A	p.V171M	EEEEVLESCMVGVARDSVKRKGDLS	EEEEVLESCMVGMARDSVKRKGDLS	9.0	6.0	unscreened	-	4069_6:30153952-30153952 C>T_EEEEVLESCMVGMARDSVKRKGDLS
17:45663749-45663749 G>A	1.0	4069	PANCREATIC	-	rs1809279	-	-	NPEPPS	uc010wkt.2,p.G318D|uc010wku.2,p.G286D|NM_006310,p.G322D|uc002ilr.4,p.G322D|ENST00000530173,p.G318D|ENST00000322157,p.G322D|ENST00000544660,p.G242D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wku.2	nonsynonymous SNV	exon7	c.G857A	p.G286D	IADFAAGAMENWGLVTYRETALLID	IADFAAGAMENWDLVTYRETALLID	10.0	2.0	unscreened	-	4069_17:45663749-45663749 G>A_IADFAAGAMENWDLVTYRETALLID
12:52841337-52841337 C>G	1.0	4069	PANCREATIC	-	-	-	-	KRT6B	uc001sak.3,p.G482A|NM_005555,p.G482A|ENST00000252252,p.G482A	protein_coding	uc001sak.3	nonsynonymous SNV	exon8	c.G1445C	p.G482A	EGEECRLNGEGVGQVNISVVQSTVS	EGEECRLNGEGVAQVNISVVQSTVS	8.0	4.0	unscreened	-	4069_12:52841337-52841337 C>G_EGEECRLNGEGVAQVNISVVQSTVS
2:234869538-234869538 C>T	1.0	4069	PANCREATIC	-	-	-	-	TRPM8	uc002vvh.3,p.T494I|NM_024080,p.T494I|ENST00000324695,p.T494I|uc010fyj.3,p.T182I|ENST00000433712,p.T182I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fyj.3	nonsynonymous SNV	exon13	c.C545T	p.T182I	LNLRKFLTHDVLTELFSNHFSTLVY	LNLRKFLTHDVLIELFSNHFSTLVY	5.0	9.0	unscreened	-	4069_2:234869538-234869538 C>T_LNLRKFLTHDVLIELFSNHFSTLVY
12:25398284-25398284 C>T	1.0	4069	PANCREATIC	-	-	ID=COSM521,COSM1135366;OCCURENCE=1(salivary_gland),171(endometrium),265(ovary),20(soft_tissue),19(urinary_tract),1(kidney),2323(pancreas),15(liver),3(eye),22(prostate),321(biliary_tract),6237(large_intestine),18(breast),24(skin),58(small_intestine),25(upper_aerodigestive_tract),10(oesophagus),4(central_nervous_system),93(stomach),2(testis),19(cervix),114(haematopoietic_and_lymphoid_tissue),15(gastrointestinal_tract_(site_indeterminate)),37(thyroid),737(lung),25(peritoneum)	1	KRAS	ENST00000256078,p.G12D|ENST00000556131,p.G12D|NM_004985,p.G12D|uc001rgq.1,p.G12D|uc001rgp.1,p.G12D|ENST00000311936,p.G12D|ENST00000557334,p.G12D|NM_033360,p.G12D	protein_coding	uc001rgq.1	nonsynonymous SNV	exon2	c.G35A	p.G12D	MTEYKLVVVGAGGVGKSALTIQLI	MTEYKLVVVGADGVGKSALTIQLI	8.0	10.0	-	-	4069_12:25398284-25398284 C>T_MTEYKLVVVGADGVGKSALTIQLI
10:99498251-99498251 G>A	1.0	4069	PANCREATIC	-	-	-	-	ZFYVE27	NM_001174122,p.R6H|NM_001174120,p.R6H|uc021pwq.1,p.R6H|uc010qpd.2,p.R6H|NM_001002261,p.R6H|ENST00000356257,p.R6H|ENST00000337540,p.R6H|NM_001002262,p.R6H|NM_144588,p.R6H|uc001kol.2,p.R6H|uc001koq.3,p.R6H|uc001kom.2,p.R6H|ENST00000453958,p.R6H|NM_001174119,p.R6H|ENST00000370613,p.R6H|ENST00000359980,p.R6H|ENST00000357540,p.R6H|uc010qpa.2,p.R6H|ENST00000393677,p.R6H	protein_coding, processed_transcript, nonsense_mediated_decay	uc021pwq.1	nonsynonymous SNV	exon1	c.G17A	p.R6H	MQTSEREGSGPELSPSVM	MQTSEHEGSGPELSPSVM	9.0	9.0	CD8	-	4069_10:99498251-99498251 G>A_MQTSEHEGSGPELSPSVM
17:45663749-45663749 G>A	1.0	4069	PANCREATIC	-	rs1809279	-	-	NPEPPS	ENST00000527360,p.G5D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000527360	nonsynonymous SNV	exon1	c.G14A	p.G5D	MENWGLVTYSSFIAIYP	MENWDLVTYSSFIAIYP	10.0	2.0	unscreened	-	4069_17:45663749-45663749 G>A_MENWDLVTYSSFIAIYP
2:25972692-25972692 G>T	1.0	4069	PANCREATIC	-	-	-	2	ASXL2	NM_018263,p.P578H|ENST00000404843,p.P318H|uc002rgt.1,p.P318H|uc002rgs.2,p.P578H|ENST00000272341,p.P318H|ENST00000435504,p.P578H|ENST00000336112,p.P550H	protein_coding, processed_transcript	uc002rgt.1	nonsynonymous SNV	exon8	c.C953A	p.P318H	LKRKSSLTQEEAPVSWEKRPRVTEN	LKRKSSLTQEEAHVSWEKRPRVTEN	8.0	9.0	-	-	4069_2:25972692-25972692 G>T_LKRKSSLTQEEAHVSWEKRPRVTEN
8:23012489-23012489 G>A	1.0	4069	PANCREATIC	-	-	-	-	TNFRSF10D	uc003xcz.2,p.R52W|ENST00000312584,p.R52W|NM_003840,p.R52W	protein_coding	uc003xcz.2	nonsynonymous SNV	exon2	c.C154T	p.R52W	FVVFIVAVLLPVRVDSATIPRQDEV	FVVFIVAVLLPVWVDSATIPRQDEV	6.0	10.0	unscreened	-	4069_8:23012489-23012489 G>A_FVVFIVAVLLPVWVDSATIPRQDEV
19:21719658-21719658 G>T	0.0	4069	PANCREATIC	-	-	-	2	ZNF429	ENST00000358491,p.R268M|uc002nqd.1,p.R268M|NM_001001415,p.R268M	protein_coding, processed_transcript	uc002nqd.1	nonsynonymous SNV	exon4	c.G803T	p.R268M	PYKCKECGKAFSRYSTLTTHKRIHS	PYKCKECGKAFSMYSTLTTHKRIHS	5.0	1.0	unscreened	-	4069_19:21719658-21719658 G>T_PYKCKECGKAFSMYSTLTTHKRIHS
7:76924044-76924044 C>G	1.0	4069	PANCREATIC	-	-	-	-	CCDC146	NM_020879,p.P910R|uc010ldp.3,p.P624R|uc003ugc.3,p.P247R|ENST00000431197,p.P624R|uc003uga.3,p.P910R|ENST00000285871,p.P910R	retained_intron, protein_coding, processed_transcript	uc010ldp.3	nonsynonymous SNV	exon11	c.C1871G	p.P624R	LPNGVYTTAEQRPNAYIPEADATLP	LPNGVYTTAEQRRNAYIPEADATLP	7.0	7.0	-	-	4069_7:76924044-76924044 C>G_LPNGVYTTAEQRRNAYIPEADATLP
20:20585875-20585875 G>A	1.0	4069	PANCREATIC	-	-	-	-	RALGAPA2	uc010zsg.2,p.T62I|uc002wry.3,p.T276I|uc002wrz.3,p.T661I|ENST00000202677,p.T661I|NM_020343,p.T661I	protein_coding, processed_transcript	uc010zsg.2	nonsynonymous SNV	exon12	c.C185T	p.T62I	AVLARTVYGVEMTNLPLDKLSEQKE	AVLARTVYGVEMINLPLDKLSEQKE	10.0	2.0	-	-	4069_20:20585875-20585875 G>A_AVLARTVYGVEMINLPLDKLSEQKE
6:33179057-33179057 A>C	0.0	4069	PANCREATIC	-	-	-	-	RING1	uc003odl.3,p.D164A|uc003odk.3,p.D193A|uc011dqx.1,p.D193A|NM_002931,p.D193A|ENST00000374656,p.D193A	protein_coding, processed_transcript	uc011dqx.1	nonsynonymous SNV	exon5	c.A578C	p.D193A	GDGEDVSSDSAPDSAPGPAPKRPRG	GDGEDVSSDSAPASAPGPAPKRPRG	7.0	1.0	unscreened	-	4069_6:33179057-33179057 A>C_GDGEDVSSDSAPASAPGPAPKRPRG
22:42262867-42262867 G>C	0.0	4069	PANCREATIC	-	-	-	-	SREBF2	uc003bbi.3,p.E41Q|NM_004599,p.E41Q|ENST00000361204,p.E41Q|ENST00000424354,p.E41Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003bbi.3	nonsynonymous SNV	exon2	c.G121C	p.E41Q	DEMLQFVSNQVGEFPDLFSEQLCSS	DEMLQFVSNQVGQFPDLFSEQLCSS	10.0	3.0	-	-	4069_22:42262867-42262867 G>C_DEMLQFVSNQVGQFPDLFSEQLCSS
6:139498103-139498103 G>C	1.0	4069	PANCREATIC	-	-	-	-	HECA	ENST00000367658,p.G498A|NM_016217,p.G498A|uc003qin.3,p.G498A	protein_coding	uc003qin.3	nonsynonymous SNV	exon4	c.G1493C	p.G498A	PCCQARLNCKHCGKPVIDVRIGMQY	PCCQARLNCKHCAKPVIDVRIGMQY	8.0	5.0	unscreened	-	4069_6:139498103-139498103 G>C_PCCQARLNCKHCAKPVIDVRIGMQY
17:7578239-7578253 CCACACGCAAATTTC>-	1.0	4069	PANCREATIC	-	-	-	1	TP53	uc010vug.3,p.160_165del|uc002gim.3,p.199_204del|ENST00000413465,p.199_204del|uc002gij.3,p.160_165del|NM_001276696,p.160_165del|ENST00000455263,p.199_204del|NM_001126115,p.67_72del|NM_001126117,p.67_72del|NM_001276695,p.160_165del|ENST00000445888,p.199_204del|ENST00000420246,p.199_204del|NM_001276760,p.160_165del|ENST00000269305,p.199_204del|NM_001276699,p.40_45del|NM_001126114,p.199_204del|uc031qyq.1,p.160_165del|ENST00000359597,p.199_204del|NM_001126116,p.67_72del|ENST00000509690,p.67_72del|uc010cng.2,p.40_45del|uc010cnh.2,p.199_204del|NM_001126118,p.160_165del|NM_001126112,p.199_204del|uc010cnf.2,p.40_45del|uc002gio.3,p.67_72del|uc002gii.2,p.40_45del|uc002gih.3,p.199_204del|NM_001276698,p.40_45del|NM_001276697,p.40_45del|NM_000546,p.199_204del|uc002gin.3,p.106_111del|NM_001126113,p.199_204del|NM_001276761,p.160_165del|uc010cni.2,p.199_204del|uc002gig.1,p.199_204del	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonframeshift deletion	exon5	c.479_493del	p.160_165del	GLAPPQHLIRVEGNLRVEYLDDRNT	GLAPPQHLIRVEEYLDDRNTFRHSV	7.0	8.0	unscreened	-	4069_17:7578239-7578253 CCACACGCAAATTTC>-_GLAPPQHLIRVEEYLDDRNTFRHSV
19:46148593-46148593 G>A	0.0	4069	PANCREATIC	-	-	-	-	EML2	uc010xxm.2,p.A37V|uc010ekl.3,p.A37V|NM_001193268,p.A37V|ENST00000587152,p.A37V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xxm.2	nonsynonymous SNV	exon1	c.C110T	p.A37V	TGGAGGGCGGAMAERGPAFCGLYDT	TGGAGGGCGGAMVERGPAFCGLYDT	8.0	9.0	unscreened	-	4069_19:46148593-46148593 G>A_TGGAGGGCGGAMVERGPAFCGLYDT
11:73748736-73748736 G>C	1.0	4069	PANCREATIC	-	-	-	-	C2CD3	ENST00000414160,p.L698V|NM_001286577,p.L1890V|uc001ouu.2,p.L1890V|ENST00000313663,p.L1890V|ENST00000334126,p.L1890V|NM_015531,p.L1890V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ouu.2	nonsynonymous SNV	exon30	c.C5668G	p.L1890V	SQTSILTSLRKNLSELDQIQRYFRQ	SQTSILTSLRKNVSELDQIQRYFRQ	9.0	5.0	unscreened	-	4069_11:73748736-73748736 G>C_SQTSILTSLRKNVSELDQIQRYFRQ
6:30917334-30917334 G>A	0.0	4069	PANCREATIC	-	-	ID=COSM3662366;OCCURENCE=2(liver)	-	DPCR1	ENST00000462446,p.G365R|uc003nsg.2,p.G365R|NM_080870,p.G365R	protein_coding	uc003nsg.2	nonsynonymous SNV	exon2	c.G1093A	p.G365R	NTTLFPAEPTEHGERTANENTTPSP	NTTLFPAEPTEHRERTANENTTPSP	9.0	1.0	unscreened	-	4069_6:30917334-30917334 G>A_NTTLFPAEPTEHRERTANENTTPSP
6:7246758-7246758 ->T	1.0	4069	PANCREATIC	-	-	-	-	RREB1	NM_001168344,p.Q1304fs|uc021yky.1,p.Q1304fs|ENST00000379933,p.Q1304fs|uc003mxb.3,p.Q1359fs|NM_001003698,p.Q1304fs|uc003mxc.3,p.Q1304fs|ENST00000379938,p.Q1359fs|ENST00000349384,p.Q1304fs|NM_001003699,p.Q1359fs	retained_intron, protein_coding, nonsense_mediated_decay	uc021yky.1	frameshift insertion	exon11	c.3910_3911insT	p.Q1304fs	REQPSEGATELRQVAGDAPVEQATA	REQPSEGATELRLGRRGCACGAGHGGNGLAGAPGRARAWGEP	9.0	8.0	unscreened	-	4069_6:7246758-7246758 ->T_REQPSEGATELRLGRRGCACGAGHGGNGLAGAPGRARAWGEP
4:145628255-145628255 G>A	1.0	4069	PANCREATIC	-	-	-	-	HHIP	uc003ijs.2,p.V334I|NM_022475,p.V334I|ENST00000296575,p.V334I	retained_intron, protein_coding, processed_transcript	uc003ijs.2	nonsynonymous SNV	exon6	c.G1000A	p.V334I	VEYTVSRKNPHQVDLRTARVFLEVA	VEYTVSRKNPHQIDLRTARVFLEVA	4.0	10.0	-	-	4069_4:145628255-145628255 G>A_VEYTVSRKNPHQIDLRTARVFLEVA
1:247615090-247615090 G>C	0.0	4069	PANCREATIC	-	-	-	-	OR2B11	uc010pyx.2,p.I65M|ENST00000318749,p.I65M|NM_001004492,p.I65M	protein_coding	uc010pyx.2	nonsynonymous SNV	exon1	c.C195G	p.I65M	SRVDPQLHSPMYIFLSHLSFLDLCY	SRVDPQLHSPMYMFLSHLSFLDLCY	1.0	3.0	unscreened	-	4069_1:247615090-247615090 G>C_SRVDPQLHSPMYMFLSHLSFLDLCY
1:152191817-152191817 G>A	1.0	4069	PANCREATIC	-	-	-	-	HRNR	NM_001009931,p.S763L|ENST00000368801,p.S763L|uc001ezt.2,p.S763L	protein_coding	uc001ezt.2	nonsynonymous SNV	exon3	c.C2288T	p.S763L	SYGQHGSGSHQSSGHGRQGSGSGHS	SYGQHGSGSHQSLGHGRQGSGSGHS	1.0	10.0	unscreened	-	4069_1:152191817-152191817 G>A_SYGQHGSGSHQSLGHGRQGSGSGHS
7:88965963-88965963 T>G	0.0	4069	PANCREATIC	-	-	-	-	ZNF804B	uc011khi.2,p.L1223V|ENST00000333190,p.L1223V|NM_181646,p.L1223V	protein_coding	uc011khi.2	nonsynonymous SNV	exon4	c.T3667G	p.L1223V	HTFLQHFAVSASLSSHSSHLPIAHL	HTFLQHFAVSASVSSHSSHLPIAHL	1.0	2.0	unscreened	-	4069_7:88965963-88965963 T>G_HTFLQHFAVSASVSSHSSHLPIAHL
2:11426739-11426739 C>A	0.0	4069	PANCREATIC	-	-	-	-	ROCK2	ENST00000261535,p.G84C|ENST00000315872,p.G84C|NM_004850,p.G84C|uc002rbd.1,p.G84C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002rbd.1	nonsynonymous SNV	exon3	c.G250T	p.G84C	LNRYEKIVKKIRGLQMKAEDYDVVK	LNRYEKIVKKIRCLQMKAEDYDVVK	9.0	1.0	unscreened	-	4069_2:11426739-11426739 C>A_LNRYEKIVKKIRCLQMKAEDYDVVK
19:6906515-6906515 G>A	0.0	4069	PANCREATIC	0.0005	-	ID=COSM3389502;OCCURENCE=1(pancreas)	-	EMR1	uc010xjj.3,p.A164T|NM_001256252,p.A289T|NM_001256254,p.A200T|ENST00000381404,p.A289T|NM_001256255,p.A164T|NM_001974,p.A341T|uc002mfw.4,p.A341T|uc010dvc.4,p.A341T|ENST00000595026,p.A258T|ENST00000381407,p.A200T|ENST00000312053,p.A341T|ENST00000250572,p.A341T|NM_001256253,p.A341T|uc010dvb.4,p.A289T|uc010xji.3,p.A200T|ENST00000450315,p.A164T	retained_intron, protein_coding, processed_transcript	uc010xjj.3	nonsynonymous SNV	exon6	c.G490A	p.A164T	DNKQIQQCQEGTAVKPAYVSFCAQI	DNKQIQQCQEGTTVKPAYVSFCAQI	3.0	10.0	unscreened	-	4069_19:6906515-6906515 G>A_DNKQIQQCQEGTTVKPAYVSFCAQI
16:83712033-83712033 C>T	0.0	4069	PANCREATIC	-	-	-	-	CDH13	NM_001257,p.T502M|ENST00000428848,p.T463M|uc010vnu.2,p.T463M|NM_001220489,p.T463M|uc002fgx.3,p.T502M|uc010vns.2,p.T549M|NM_001220490,p.T248M|ENST00000268613,p.T549M|NM_001220488,p.T549M|ENST00000566620,p.T502M|uc010vnt.2,p.T248M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vnu.2	nonsynonymous SNV	exon9	c.C1388T	p.T463M	LSVGSVLLTVNATDPDSLQHQTIRY	LSVGSVLLTVNAMDPDSLQHQTIRY	8.0	7.0	-	-	4069_16:83712033-83712033 C>T_LSVGSVLLTVNAMDPDSLQHQTIRY
14:50081101-50081101 T>G	1.0	4069	PANCREATIC	-	-	-	-	LRR1	ENST00000318317,p.F137C|uc001wwo.3,p.F137C|NM_203467,p.F137C	protein_coding, processed_transcript, nonsense_mediated_decay	uc001wwo.3	nonsynonymous SNV	exon3	c.T410G	p.F137C	LFHSRNYYHESAFCCPHCGLSR	LFHSRNYYHESACCCPHCGLSR	6.0	6.0	unscreened	-	4069_14:50081101-50081101 T>G_LFHSRNYYHESACCCPHCGLSR
20:23016247-23016281 CGGGCGGCGGGCATGGTCGCTATCCAGTGCATCTA>-	0.0	4069	PANCREATIC	-	-	-	-	SSTR4	NM_001052,p.R43fs|uc002wsr.2,p.R43fs|ENST00000255008,p.R43fs	protein_coding	uc002wsr.2	frameshift deletion	exon1	c.127_161del	p.R43fs	EAEEAVAGPGDARAAGMVAIQCIYA	EAEEAVAGPGDARAGVPGGAGGQRPGHLRDPSLRQDEDGYQHLPAQPGRSRRALHAERALRGLVGRPAPLALRLRAVPRGAQRRRPQHVHQRLLSHRAQRGPLRGRGAPSARGDLPAAQRGQAHQPGRVAGIPVGHSPHRHLRRHQTGSRRPGRGLQPAVATPGLVGSLRGLHFPAGLPAARAGHWPVLPAHRGQDARRGPARWLAAAQALGEENHQAGADGRGRLCALLDAFLRGAAAEPLRDQP	1.0	3.0	unscreened	-	4069_20:23016247-23016281 CGGGCGGCGGGCATGGTCGCTATCCAGTGCATCTA>-_EAEEAVAGPGDARAGVPGGAGGQRPGHLRDPSLRQDEDGYQHLPAQPGRSRRALHAERALRGLVGRPAPLALRLRAVPRGAQRRRPQHVHQRLLSHRAQRGPLRGRGAPSARGDLPAAQRGQAHQPGRVAGIPVGHSPHRHLRRHQTGSRRPGRGLQPAVATPGLVGSLRGLHFPAGLPAARAGHWPVLPAHRGQDARRGPARWLAAAQALGEENHQAGADGRGRLCALLDAFLRGAAAEPLRDQP
1:247615080-247615080 G>T	0.0	4069	PANCREATIC	-	-	-	-	OR2B11	NM_001004492,p.H69N|ENST00000318749,p.H69N|uc010pyx.2,p.H69N	protein_coding	uc010pyx.2	nonsynonymous SNV	exon1	c.C205A	p.H69N	PQLHSPMYIFLSHLSFLDLCYTTTT	PQLHSPMYIFLSNLSFLDLCYTTTT	1.0	3.0	unscreened	-	4069_1:247615080-247615080 G>T_PQLHSPMYIFLSNLSFLDLCYTTTT
19:38985171-38985171 A>G	0.0	4069	PANCREATIC	-	-	-	-	RYR1	ENST00000360985,p.T2152A|uc002oit.3,p.T2152A|NM_000540,p.T2152A|ENST00000355481,p.T2152A|NM_001042723,p.T2152A|uc002oiu.3,p.T2152A|ENST00000359596,p.T2152A	retained_intron, protein_coding, nonsense_mediated_decay	uc002oiu.3	nonsynonymous SNV	exon39	c.A6454G	p.T2152A	RAYTISPSSVEDTMSLLECLGQIRS	RAYTISPSSVEDAMSLLECLGQIRS	2.0	9.0	unscreened	-	4069_19:38985171-38985171 A>G_RAYTISPSSVEDAMSLLECLGQIRS
17:61957806-61957806 G>T	0.0	4069	PANCREATIC	-	-	-	-	GH2	NM_022556,p.H162N|ENST00000449787,p.H162N|NM_002059,p.H177N|ENST00000423893,p.H177N|uc002jco.2,p.H177N|uc002jcn.2,p.H162N	protein_coding	uc002jco.2	nonsynonymous SNV	exon5	c.C529A	p.H177N	FNQSYSKFDTKSHNDDALLKNYGLL	FNQSYSKFDTKSNNDDALLKNYGLL	1.0	4.0	unscreened	-	4069_17:61957806-61957806 G>T_FNQSYSKFDTKSNNDDALLKNYGLL
16:31419152-31419152 G>A	0.0	4069	PANCREATIC	-	-	ID=COSM245070;OCCURENCE=1(prostate)	-	ITGAD	uc010vfl.1,p.A341T	retained_intron, protein_coding	uc010vfl.1	nonsynonymous SNV	exon8	c.G1021A	p.A341T	QAGAEYHQLSASAGPRVQGGQLCSP	QAGAEYHQLSASTGPRVQGGQLCSP	2.0	1.0	unscreened	-	4069_16:31419152-31419152 G>A_QAGAEYHQLSASTGPRVQGGQLCSP
10:50574403-50574403 C>T	0.0	4069	PANCREATIC	0.0014	-	ID=COSM918649;OCCURENCE=1(endometrium)	-	DRGX	uc021pqd.2,p.V184I|uc010qgq.2,p.V189I|ENST00000374139,p.V184I|NM_001276451,p.V184I|ENST00000434016,p.V189I	protein_coding	uc021pqd.2	nonsynonymous SNV	exon7	c.G550A	p.V184I	ASLKGGPLCSCCVPDPMGLSFLPTY	ASLKGGPLCSCCIPDPMGLSFLPTY	1.0	8.0	unscreened	-	4069_10:50574403-50574403 C>T_ASLKGGPLCSCCIPDPMGLSFLPTY
11:62744732-62744732 C>T	0.0	4069	PANCREATIC	-	-	ID=COSM315262;OCCURENCE=1(lung)	-	SLC22A6	NM_004790,p.A497T|uc001nwj.3,p.A497T|ENST00000377871,p.A497T|NM_153276,p.A497T|ENST00000360421,p.A497T|uc001nwk.3,p.A497T	protein_coding, processed_transcript, nonsense_mediated_decay	uc001nwk.3	nonsynonymous SNV	exon9	c.G1489A	p.A497T	MPLFIYGAVPVAASAVTVLLPETLG	MPLFIYGAVPVATSAVTVLLPETLG	1.0	4.0	unscreened	-	4069_11:62744732-62744732 C>T_MPLFIYGAVPVATSAVTVLLPETLG
4:20535275-20535275 C>T	0.0	4069	PANCREATIC	0.0005	-	-	-	SLIT2	ENST00000503823,p.T582M|uc003gpr.1,p.T590M|NM_004787,p.T590M|uc003gps.1,p.T582M|NM_001289135,p.T586M|ENST00000504154,p.T590M|ENST00000273739,p.T594M|ENST00000503837,p.T586M|NM_001289136,p.T582M	retained_intron, protein_coding, processed_transcript	uc003gps.1	nonsynonymous SNV	exon17	c.C1745T	p.T582M	FEGASGVNEILLTSNRLENVQHKMF	FEGASGVNEILLMSNRLENVQHKMF	5.0	4.0	-	-	4069_4:20535275-20535275 C>T_FEGASGVNEILLMSNRLENVQHKMF
4:183245253-183245253 C>T	0.0	4069	PANCREATIC	-	-	-	-	TENM3	uc003ivd.1,p.S27F|ENST00000406950,p.S27F|ENST00000512480,p.S27F|ENST00000511685,p.S27F|uc010irv.1,p.S27F|NM_001080477,p.S27F|uc021xux.1,p.S27F	retained_intron, protein_coding, processed_transcript	uc021xux.1	nonsynonymous SNV	exon1	c.C80T	p.S27F	SRREKERRYTNSSADNEECRVPTQK	SRREKERRYTNSFADNEECRVPTQK	2.0	1.0	unscreened	-	4069_4:183245253-183245253 C>T_SRREKERRYTNSFADNEECRVPTQK
22:38120524-38120524 G>A	0.0	4069	PANCREATIC	-	-	-	-	TRIOBP	ENST00000406386,p.R654Q|uc003ats.1,p.R482Q|uc003atq.1,p.R654Q|NM_001039141,p.R654Q|uc003atr.3,p.R654Q|uc003atu.3,p.R482Q	retained_intron, protein_coding, nonsense_mediated_decay	uc003atu.3	nonsynonymous SNV	exon5	c.G1445A	p.R482Q	TTQQDSPRTSCARRDDPRASSPNRT	TTQQDSPRTSCAQRDDPRASSPNRT	9.0	3.0	unscreened	-	4069_22:38120524-38120524 G>A_TTQQDSPRTSCAQRDDPRASSPNRT
7:12664735-12664735 A>T	0.0	4069	PANCREATIC	-	-	-	-	SCIN	ENST00000445618,p.H40L|ENST00000297029,p.H287L|NM_033128,p.H40L|ENST00000341757,p.H287L|ENST00000519209,p.H40L|uc003ssn.4,p.H287L|NM_001112706,p.H287L|uc003sso.4,p.H40L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003sso.4	nonsynonymous SNV	exon4	c.A119T	p.H40L	AMLLSEECFILDHGAAKQIFVWKGK	AMLLSEECFILDLGAAKQIFVWKGK	3.0	7.0	-	-	4069_7:12664735-12664735 A>T_AMLLSEECFILDLGAAKQIFVWKGK
1:26517239-26517239 C>T	0.0	4069	PANCREATIC	-	-	-	-	CATSPER4	ENST00000456354,p.R41C|uc010oez.2,p.R41C|ENST00000518899,p.R41C|ENST00000338855,p.R41C|NM_198137,p.R41C	protein_coding, nonsense_mediated_decay	uc010oez.2	nonsynonymous SNV	exon1	c.C121T	p.R41C	MGFGGAVAALRGRPSPLQSTIHESY	MGFGGAVAALRGCPSPLQSTIHESY	1.0	8.0	unscreened	-	4069_1:26517239-26517239 C>T_MGFGGAVAALRGCPSPLQSTIHESY
10:108924203-108924203 C>T	0.0	4069	PANCREATIC	-	-	-	-	SORCS1	uc001kyl.3,p.A28T|uc001kyo.3,p.A28T|uc001kym.3,p.A28T|NM_052918,p.A28T|NM_001013031,p.A28T|NM_001206572,p.A28T|NM_001206571,p.A28T|ENST00000344440,p.A28T|NM_001206569,p.A28T|ENST00000263054,p.A28T|NM_001206570,p.A28T|uc009xxs.3,p.A28T|uc021pxw.1,p.A28T|uc001kyn.2,p.A28T	protein_coding, processed_transcript	uc021pxw.1	nonsynonymous SNV	exon1	c.G82A	p.A28T	ALLAGAGLLILCAPGVCGGGSCCPS	ALLAGAGLLILCTPGVCGGGSCCPS	1.0	4.0	-	-	4069_10:108924203-108924203 C>T_ALLAGAGLLILCTPGVCGGGSCCPS
9:135939846-135939846 G>C	0.0	4069	PANCREATIC	-	-	-	-	CEL	ENST00000372080,p.G44A|NM_001807,p.G44A|ENST00000351304,p.G41A|uc010naa.2,p.G44A	protein_coding	uc010naa.2	nonsynonymous SNV	exon2	c.G131C	p.G44A	EGGFVEGVNKKLGLLGDSVDIFKGI	EGGFVEGVNKKLALLGDSVDIFKGI	2.0	5.0	unscreened	-	4069_9:135939846-135939846 G>C_EGGFVEGVNKKLALLGDSVDIFKGI
2:68740267-68740267 G>A	0.0	4069	PANCREATIC	-	-	ID=COSM1163260;OCCURENCE=1(pancreas)	-	APLF	ENST00000303795,p.V133M|ENST00000529851,p.V109M|uc010fdf.2,p.V109M|NM_173545,p.V133M|ENST00000445692,p.V133M|uc002sep.3,p.V133M	protein_coding, processed_transcript, nonsense_mediated_decay	uc010fdf.2	nonsynonymous SNV	exon3	c.G325A	p.V109M	EDNILNETPKSPVINLPHETTGASQ	EDNILNETPKSPMINLPHETTGASQ	4.0	6.0	unscreened	-	4069_2:68740267-68740267 G>A_EDNILNETPKSPMINLPHETTGASQ
20:58322846-58322846 G>A	0.0	4069	PANCREATIC	-	-	-	-	PHACTR3	NM_080672,p.R105Q|NM_001281507,p.R64Q|NM_001199505,p.R102Q|NM_001199506,p.R64Q|ENST00000371015,p.R105Q|NM_183246,p.R64Q|ENST00000361300,p.R64Q|uc002yaw.3,p.R64Q|ENST00000359926,p.R102Q|ENST00000355648,p.R64Q|uc010zzw.2,p.R64Q|uc002yat.3,p.R102Q|uc002yax.3,p.R64Q|ENST00000395636,p.R64Q|ENST00000541461,p.R64Q|ENST00000395639,p.R64Q|NM_183244,p.R64Q|uc002yau.3,p.R105Q|uc002yav.3,p.R64Q	retained_intron, protein_coding	uc010zzw.2	nonsynonymous SNV	exon3	c.G191A	p.R64Q	SALEKKMAGRQGREELIKKGLLEMM	SALEKKMAGRQGQEELIKKGLLEMM	3.0	5.0	unscreened	-	4069_20:58322846-58322846 G>A_SALEKKMAGRQGQEELIKKGLLEMM
19:16677428-16677428 T>G	1.0	4071	COLON	-	-	-	-	SLC35E1	ENST00000409035,p.T418P	 protein_coding, processed_transcript,retained_intron, nonsense_mediated_decay	ENST00000409035	nonsynonymous SNV	exon5	c.A1252C	p.T418P	CEIHGSTISGCSTSWAATPSSL	CEIHGSTISGCSPSWAATPSSL	9.0	4.0	-	-	4071_19:16677428-16677428 T>G_CEIHGSTISGCSPSWAATPSSL
8:97318737-97318737 T>G	1.0	4071	COLON	-	-	-	-	PTDSS1	ENST00000517309,p.S320R|NM_014754,p.S320R|ENST00000455950,p.S174R|ENST00000522072,p.S117R|NM_001290225,p.S174R|uc003yht.1,p.S320R|uc003yhu.1,p.S174R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yhu.1	nonsynonymous SNV	exon6	c.T522G	p.S174R	KHIFVFQASHPLSWGRILFIGGITA	KHIFVFQASHPLRWGRILFIGGITA	9.0	2.0	-	-	4071_8:97318737-97318737 T>G_KHIFVFQASHPLRWGRILFIGGITA
11:237103-237103 G>T	1.0	4071	COLON	-	-	-	-	PSMD13	NM_002817,p.Q18H|NM_175932,p.Q18H|ENST00000525665,p.Q18H|ENST00000352303,p.Q18H|ENST00000382671,p.Q18H|uc001lol.2,p.Q18H|ENST00000431206,p.Q18H|uc001loo.2,p.Q18H|ENST00000532097,p.Q18H|ENST00000529372,p.Q18H|ENST00000528906,p.Q18H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001loo.2	nonsynonymous SNV	exon1	c.G54T	p.Q18H	GFLQQSQNSGPGQPAVWHRLEELYT	GFLQQSQNSGPGHPAVWHRLEELYT	9.0	9.0	-	-	4071_11:237103-237103 G>T_GFLQQSQNSGPGHPAVWHRLEELYT
12:124922528-124922528 C>T	1.0	4071	COLON	-	-	-	1	NCOR2	ENST00000458234,p.R277Q|ENST00000356219,p.R277Q|uc001ugk.1,p.R277Q|uc001ugj.1,p.R277Q|ENST00000420698,p.R277Q|NM_001077261,p.R277Q|uc010tba.2,p.R277Q|ENST00000405201,p.R277Q|ENST00000404621,p.R277Q|ENST00000397355,p.R277Q|NM_001206654,p.R277Q|NM_006312,p.R277Q|uc021rgc.1,p.R277Q|ENST00000448008,p.R179Q|ENST00000429285,p.R277Q|uc010tbb.2,p.R277Q|uc010tbc.2,p.R277Q	retained_intron, protein_coding	uc021rgc.1	nonsynonymous SNV	exon10	c.G830A	p.R277Q	QYHENIKINQAMRKKLILYFKRRNH	QYHENIKINQAMQKKLILYFKRRNH	10.0	8.0	unscreened	-	4071_12:124922528-124922528 C>T_QYHENIKINQAMQKKLILYFKRRNH
14:58724647-58724647 T>G	1.0	4071	COLON	-	-	-	-	PSMA3	ENST00000412908,p.L112R|ENST00000557508,p.L37R|uc001xdj.2,p.L112R|uc021rtt.1,p.L37R|NM_002788,p.L112R|NM_152132,p.L112R|uc001xdk.2,p.L112R|ENST00000216455,p.L112R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021rtt.1	nonsynonymous SNV	exon4	c.T110G	p.L37R	RSNFGYNIPLKHLADRVAMYVHAYT	RSNFGYNIPLKHRADRVAMYVHAYT	10.0	7.0	-	-	4071_14:58724647-58724647 T>G_RSNFGYNIPLKHRADRVAMYVHAYT
7:100641964-100641964 C>T	1.0	4071	COLON	-	-	-	-	MUC12	ENST00000379442,p.T2850M|uc003uxo.3,p.T2707M|ENST00000536621,p.T2707M|NM_001164462,p.T2707M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.C8120T	p.T2707M	STHSTVSPASTTTPGLSEESTTVYS	STHSTVSPASTTMPGLSEESTTVYS	8.0	1.0	unscreened	-	4071_7:100641964-100641964 C>T_STHSTVSPASTTMPGLSEESTTVYS
2:32743430-32743430 A>C	1.0	4071	COLON	-	-	-	2	BIRC6	NM_016252,p.E3820A|ENST00000421745,p.E3820A|uc010ezu.3,p.E3820A	retained_intron, protein_coding, nonsense_mediated_decay	uc010ezu.3	nonsynonymous SNV	exon56	c.A11459C	p.E3820A	IRRLFLQLMLEDEKVTMFLQSPCPL	IRRLFLQLMLEDAKVTMFLQSPCPL	9.0	6.0	-	-	4071_2:32743430-32743430 A>C_IRRLFLQLMLEDAKVTMFLQSPCPL
22:50278118-50278118 T>G	1.0	4071	COLON	-	-	-	-	ZBED4	NM_014838,p.L270V|ENST00000216268,p.L270V|uc003bix.2,p.L270V|uc021wrx.1,p.L270V	protein_coding	uc021wrx.1	nonsynonymous SNV	exon1	c.T808G	p.L270V	LPALHYDEPAENLAEKSLPLPKSTS	LPALHYDEPAENVAEKSLPLPKSTS	8.0	6.0	-	-	4071_22:50278118-50278118 T>G_LPALHYDEPAENVAEKSLPLPKSTS
8:80831334-80831334 G>A	1.0	4071	COLON	-	-	-	-	MRPS28	ENST00000276585,p.L149F|ENST00000520946,p.L87F|uc003ybp.3,p.L149F|NM_014018,p.L149F|ENST00000519120,p.L67F|ENST00000521434,p.L87F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ybp.3	nonsynonymous SNV	exon3	c.C445T	p.L149F	GTRVRLRLLDLELTSRFLGATTDTT	GTRVRLRLLDLEFTSRFLGATTDTT	8.0	10.0	CD8	-	4071_8:80831334-80831334 G>A_GTRVRLRLLDLEFTSRFLGATTDTT
2:120005729-120005729 T>A	1.0	4071	COLON	-	-	-	-	STEAP3	ENST00000354888,p.L323M|ENST00000425223,p.L323M|ENST00000393108,p.L323M|ENST00000393106,p.L323M|NM_182915,p.L333M|uc002tlp.3,p.L323M|uc010fle.3,p.L323M|NM_018234,p.L323M|ENST00000393110,p.L333M|ENST00000393107,p.L323M|NM_001008410,p.L323M|ENST00000450943,p.L323M|uc002tlq.3,p.L333M|ENST00000409811,p.L323M|uc002tlr.3,p.L323M	protein_coding	uc010fle.3	nonsynonymous SNV	exon3	c.T967A	p.L323M	FCAALHALYSFCLPLRRAHRYDLVN	FCAALHALYSFCMPLRRAHRYDLVN	8.0	8.0	-	-	4071_2:120005729-120005729 T>A_FCAALHALYSFCMPLRRAHRYDLVN
1:32119545-32119545 C>T	1.0	4071	COLON	-	-	-	-	COL16A1	ENST00000373672,p.R1486K|ENST00000271069,p.R1486K|NM_001856,p.R1486K|uc001btk.1,p.R1486K|uc001btj.1,p.R1284K	retained_intron, protein_coding, processed_transcript	uc001btk.1	nonsynonymous SNV	exon69	c.G4457A	p.R1486K	RPGPPGKDGAPGRPGAPGSPGLPGQ	RPGPPGKDGAPGKPGAPGSPGLPGQ	8.0	8.0	-	-	4071_1:32119545-32119545 C>T_RPGPPGKDGAPGKPGAPGSPGLPGQ
2:157182411-157182411 G>A	1.0	4071	COLON	-	-	-	-	NR4A2	ENST00000409108,p.P513L|ENST00000429376,p.P450L	protein_coding, nonsense_mediated_decay	ENST00000429376	nonsynonymous SNV	exon8	c.C1349T	p.P450L	QRPRDFQQWGVEPPQLFVQTVGEAP	QRPRDFQQWGVELPQLFVQTVGEAP	5.0	2.0	-	-	4071_2:157182411-157182411 G>A_QRPRDFQQWGVELPQLFVQTVGEAP
7:104746043-104746043 C>T	1.0	4071	COLON	-	-	-	-	KMT2E	ENST00000334884,p.S785F|NM_182931,p.S785F|ENST00000334877,p.S785F|uc003vcm.3,p.S785F|NM_018682,p.S785F|ENST00000257745,p.S785F|uc031syt.1,p.S785F|ENST00000311117,p.S785F|uc010ljc.3,p.S785F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031syt.1	nonsynonymous SNV	exon16	c.C2354T	p.S785F	SLPGLTYSPHVYSTPKHYIRFTSPF	SLPGLTYSPHVYFTPKHYIRFTSPF	10.0	10.0	-	-	4071_7:104746043-104746043 C>T_SLPGLTYSPHVYFTPKHYIRFTSPF
9:104187229-104187229 T>G	1.0	4071	COLON	-	-	-	-	ALDOB	uc004bbk.2,p.S299R|NM_000035,p.S299R|ENST00000374855,p.S299R	protein_coding, processed_transcript	uc004bbk.2	nonsynonymous SNV	exon8	c.A895C	p.S299R	INLCPLPKPWKLSFSYGRALQASAL	INLCPLPKPWKLRFSYGRALQASAL	5.0	5.0	-	-	4071_9:104187229-104187229 T>G_INLCPLPKPWKLRFSYGRALQASAL
5:112175351-112175352 TT>-	1.0	4071	COLON	-	-	ID=COSM19842;OCCURENCE=1(large_intestine)	1	APC	ENST00000508376,p.F1354fs|ENST00000457016,p.F1354fs|ENST00000257430,p.F1354fs|uc003kpy.4,p.F1354fs|uc010jbz.3,p.F1071fs|uc011cvt.2,p.F1336fs|NM_001127510,p.F1354fs|uc010jca.3,p.F654fs|NM_000038,p.F1354fs|uc003kpz.4,p.F1354fs|NM_001127511,p.F1336fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cvt.2	frameshift deletion	exon14	c.4006_4007del	p.F1336fs	LSSESARHKAVEFSSGAKSPSKSGA	LSSESARHKAVEFFRSEISLQKWCSDTQKST	9.0	10.0	unscreened	-	4071_5:112175351-112175352 TT>-_LSSESARHKAVEFFRSEISLQKWCSDTQKST
17:60060290-60060290 C>A	1.0	4071	COLON	-	-	-	-	MED13	uc002izo.3,p.G1025V|ENST00000397786,p.G1025V|NM_005121,p.G1025V	retained_intron, protein_coding, processed_transcript	uc002izo.3	nonsynonymous SNV	exon16	c.G3074T	p.G1025V	RTPRTPRTPRGAGGPASAQGSVKYE	RTPRTPRTPRGAVGPASAQGSVKYE	9.0	4.0	-	-	4071_17:60060290-60060290 C>A_RTPRTPRTPRGAVGPASAQGSVKYE
3:32200591-32200591 G>C	1.0	4071	COLON	-	-	-	-	GPD1L	ENST00000282541,p.R281T|uc003cew.3,p.R281T|NM_015141,p.R281T	retained_intron, protein_coding, nonsense_mediated_decay	uc003cew.3	nonsynonymous SNV	exon6	c.G842C	p.R281T	GGRNRRVAEAFARTGKTIEELEKEM	GGRNRRVAEAFATTGKTIEELEKEM	7.0	7.0	-	-	4071_3:32200591-32200591 G>C_GGRNRRVAEAFATTGKTIEELEKEM
12:25398284-25398284 C>T	1.0	4071	COLON	-	-	ID=COSM521,COSM1135366;OCCURENCE=1(salivary_gland),171(endometrium),265(ovary),20(soft_tissue),19(urinary_tract),1(kidney),2323(pancreas),15(liver),3(eye),22(prostate),321(biliary_tract),6237(large_intestine),18(breast),24(skin),58(small_intestine),25(upper_aerodigestive_tract),10(oesophagus),4(central_nervous_system),93(stomach),2(testis),19(cervix),114(haematopoietic_and_lymphoid_tissue),15(gastrointestinal_tract_(site_indeterminate)),37(thyroid),737(lung),25(peritoneum)	1	KRAS	ENST00000256078,p.G12D|ENST00000556131,p.G12D|NM_033360,p.G12D|uc001rgp.1,p.G12D|ENST00000557334,p.G12D|uc001rgq.1,p.G12D|NM_004985,p.G12D|ENST00000311936,p.G12D	protein_coding	uc001rgq.1	nonsynonymous SNV	exon2	c.G35A	p.G12D	MTEYKLVVVGAGGVGKSALTIQLI	MTEYKLVVVGADGVGKSALTIQLI	9.0	10.0	-	-	4071_12:25398284-25398284 C>T_MTEYKLVVVGADGVGKSALTIQLI
13:25067737-25067737 G>C	1.0	4071	COLON	-	-	-	-	PARP4	uc001upl.3,p.N292K|ENST00000381989,p.N292K|uc010tdc.2,p.N292K|NM_006437,p.N292K	retained_intron, protein_coding, processed_transcript	uc010tdc.2	nonsynonymous SNV	exon8	c.C876G	p.N292K	HMLLKPVNRISLNDVSKAEGILLLV	HMLLKPVNRISLKDVSKAEGILLLV	10.0	8.0	-	-	4071_13:25067737-25067737 G>C_HMLLKPVNRISLKDVSKAEGILLLV
1:118492413-118492413 T>G	1.0	4071	COLON	-	-	-	-	WDR3	NM_006784,p.F522V|uc010oxe.1,p.F522V|ENST00000349139,p.F522V	protein_coding, processed_transcript	uc010oxe.1	nonsynonymous SNV	exon14	c.T1564G	p.F522V	GFVTGGADKSVKFWDFELVKDENST	GFVTGGADKSVKVWDFELVKDENST	7.0	5.0	-	-	4071_1:118492413-118492413 T>G_GFVTGGADKSVKVWDFELVKDENST
2:55756046-55756046 T>G	1.0	4071	COLON	-	-	-	-	CFAP36	ENST00000339012,p.D130E|uc002ryx.2,p.D130E|uc002ryy.2,p.D105E|ENST00000349456,p.D105E|ENST00000407816,p.D105E|ENST00000406691,p.D105E|NM_001282761,p.D130E|ENST00000403007,p.D105E|NM_080667,p.D105E	retained_intron, protein_coding, processed_transcript	uc002ryy.2	nonsynonymous SNV	exon4	c.T315G	p.D105E	SQAILQPVLAAEDFTIFKAMMVQKN	SQAILQPVLAAEEFTIFKAMMVQKN	6.0	5.0	-	-	4071_2:55756046-55756046 T>G_SQAILQPVLAAEEFTIFKAMMVQKN
12:2932960-2932960 G>A	1.0	4071	COLON	-	-	-	-	ITFG2	uc001qlb.2,p.R364H|ENST00000419778,p.R187H|ENST00000542548,p.R252H|ENST00000228799,p.R364H|ENST00000534935,p.R48H|uc010seb.2,p.R187H|NM_018463,p.R364H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010seb.2	nonsynonymous SNV	exon8	c.G560A	p.R187H	AFCAGLYACKEGRNSPCLVYVTFNQ	AFCAGLYACKEGHNSPCLVYVTFNQ	9.0	10.0	-	-	4071_12:2932960-2932960 G>A_AFCAGLYACKEGHNSPCLVYVTFNQ
9:139101101-139101101 G>A	1.0	4071	COLON	0.0037	-	-	-	QSOX2	ENST00000358701,p.R524W|uc010nbi.2,p.R524W|NM_181701,p.R524W	protein_coding	uc010nbi.2	nonsynonymous SNV	exon12	c.C1570T	p.R524W	NGRLAGHLSEDPRFPKLQWPTPDLC	NGRLAGHLSEDPWFPKLQWPTPDLC	5.0	5.0	CD8	-	4071_9:139101101-139101101 G>A_NGRLAGHLSEDPWFPKLQWPTPDLC
10:74097970-74097970 T>C	1.0	4071	COLON	-	-	-	-	DNAJB12	ENST00000394903,p.S309G|NM_017626,p.S309G|ENST00000338820,p.S309G|uc001jsz.2,p.S309G|uc001jta.2,p.S309G|uc010qjv.1,p.S309G|ENST00000444643,p.S275G|NM_001002762,p.S309G	retained_intron, protein_coding, processed_transcript	uc010qjv.1	nonsynonymous SNV	exon6	c.A925G	p.S309G	SQLMVSSPPYSLSPRPSVGHIHRRV	SQLMVSSPPYSLGPRPSVGHIHRRV	7.0	6.0	-	-	4071_10:74097970-74097970 T>C_SQLMVSSPPYSLGPRPSVGHIHRRV
17:7578517-7578517 G>A	1.0	4071	COLON	-	-	ID=COSM288785,COSM3421939,COSM288787,COSM3421938,COSM288786,COSM43818,COSM288784;OCCURENCE=1(liver),6(large_intestine),2(breast),1(endometrium),1(soft_tissue),2(ovary),3(haematopoietic_and_lymphoid_tissue),1(lung),3(stomach)	1	TP53	uc010vug.3,p.A99V|NM_000546,p.A138V|uc002gin.3,p.A45V|ENST00000269305,p.A138V|ENST00000508793,p.A138V|uc031qyq.1,p.A99V|NM_001126118,p.A99V|NM_001276696,p.A99V|NM_001126113,p.A138V|ENST00000420246,p.A138V|uc002gij.3,p.A99V|ENST00000445888,p.A138V|NM_001126112,p.A138V|NM_001276760,p.A99V|NM_001276761,p.A99V|NM_001126114,p.A138V|ENST00000514944,p.A45V|ENST00000359597,p.A138V|NM_001276695,p.A99V|ENST00000455263,p.A138V|uc002gig.1,p.A138V|uc002gih.3,p.A138V|ENST00000413465,p.A138V	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon4	c.C296T	p.A99V	YSPALNKMFCQLAKTCPVQLWVDST	YSPALNKMFCQLVKTCPVQLWVDST	9.0	10.0	-	-	4071_17:7578517-7578517 G>A_YSPALNKMFCQLVKTCPVQLWVDST
17:7578517-7578517 G>A	1.0	4071	COLON	-	-	ID=COSM288785,COSM3421939,COSM288787,COSM3421938,COSM288786,COSM43818,COSM288784;OCCURENCE=1(liver),6(large_intestine),2(breast),1(endometrium),1(soft_tissue),2(ovary),3(haematopoietic_and_lymphoid_tissue),1(lung),3(stomach)	1	TP53	ENST00000604348,p.A131V	retained_intron, protein_coding, processed_transcript	ENST00000604348	nonsynonymous SNV	exon5	c.C392T	p.A131V	AKSVTCTMFCQLAKTCPVQLWVDST	AKSVTCTMFCQLVKTCPVQLWVDST	9.0	10.0	-	-	4071_17:7578517-7578517 G>A_AKSVTCTMFCQLVKTCPVQLWVDST
1:93159879-93159879 G>A	1.0	4071	COLON	-	-	-	-	EVI5	uc010otf.2,p.L370F|uc001dox.3,p.L370F|ENST00000540033,p.L370F|ENST00000543509,p.L370F|ENST00000370331,p.L370F|NM_005665,p.L370F	protein_coding, processed_transcript	uc010otf.2	nonsynonymous SNV	exon8	c.C1108T	p.L370F	ALLQMNQAELMQLDMEGMLQHFQKV	ALLQMNQAELMQFDMEGMLQHFQKV	8.0	5.0	-	-	4071_1:93159879-93159879 G>A_ALLQMNQAELMQFDMEGMLQHFQKV
19:16677428-16677428 T>G	1.0	4071	COLON	-	-	-	-	SLC35E1	ENST00000595753,p.N224T|NM_024881,p.N224T|ENST00000436553,p.N158T|uc002nem.1,p.N224T|ENST00000431408,p.N68T|uc010xph.2,p.N224T	 protein_coding, processed_transcript,retained_intron, nonsense_mediated_decay	uc010xph.2	nonsynonymous SNV	exon4	c.A671C	p.N224T	LRDSRIHHLRLLNILGCHAVFFMIP	LRDSRIHHLRLLTILGCHAVFFMIP	9.0	4.0	-	-	4071_19:16677428-16677428 T>G_LRDSRIHHLRLLTILGCHAVFFMIP
1:148024720-148024720 G>T	1.0	4071	COLON	-	-	-	-	NBPF8	uc001eqg.3,p.S38R|uc001eqe.3,p.S38R	protein_coding	uc001eqg.3	nonsynonymous SNV	exon3	c.C114A	p.S38R	LRGVDWHSTLSKSSAQKMTTMTMKM	LRGVDWHSTLSKRSAQKMTTMTMKM	8.0	1.0	unscreened	-	4071_1:148024720-148024720 G>T_LRGVDWHSTLSKRSAQKMTTMTMKM
15:23932264-23932264 G>A	0.0	4071	COLON	-	-	-	-	NDN	NM_002487,p.P34L|ENST00000331837,p.P34L|uc001ywk.3,p.P34L	protein_coding	uc001ywk.3	nonsynonymous SNV	exon1	c.C101T	p.P34L	VHSSPGVSEGVPPSATLAEPQSPPL	VHSSPGVSEGVPLSATLAEPQSPPL	6.0	9.0	unscreened	-	4071_15:23932264-23932264 G>A_VHSSPGVSEGVPLSATLAEPQSPPL
7:75611613-75611613 G>A	1.0	4071	COLON	-	-	-	-	POR	ENST00000419840,p.R82Q|ENST00000450476,p.R167Q|ENST00000394893,p.R268Q|uc011kgc.2,p.R76Q|ENST00000545601,p.R76Q|uc003udy.3,p.R268Q|ENST00000461988,p.R268Q|NM_000941,p.R268Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kgc.2	nonsynonymous SNV	exon3	c.G227A	p.R76Q	IDAAKVYMGEMGRLKSYENQKPPFD	IDAAKVYMGEMGQLKSYENQKPPFD	10.0	7.0	CD8	-	4071_7:75611613-75611613 G>A_IDAAKVYMGEMGQLKSYENQKPPFD
7:64388514-64388514 G>C	0.0	4071	COLON	-	-	-	-	ZNF273	NM_021148,p.A270P|uc003ttn.3,p.A205P|uc003ttl.3,p.A205P|uc003tto.3,p.A270P|ENST00000476120,p.A270P|ENST00000319636,p.A205P	protein_coding, processed_transcript, nonsense_mediated_decay	uc003tto.3	nonsynonymous SNV	exon4	c.G808C	p.A270P	EVNPYKCEECGKAFNQSLTLTKHKK	EVNPYKCEECGKPFNQSLTLTKHKK	6.0	1.0	unscreened	-	4071_7:64388514-64388514 G>C_EVNPYKCEECGKPFNQSLTLTKHKK
16:3367700-3367700 G>T	1.0	4071	COLON	-	-	-	-	ZNF75A	NM_153028,p.G241V|ENST00000574298,p.G241V|uc002cut.4,p.G241V|NM_001302109,p.G482V	retained_intron, protein_coding, processed_transcript	uc002cut.4	nonsynonymous SNV	exon6	c.G722T	p.G241V	NTNLHTHQRTHTGEKPFTCHECGKK	NTNLHTHQRTHTVEKPFTCHECGKK	7.0	2.0	-	-	4071_16:3367700-3367700 G>T_NTNLHTHQRTHTVEKPFTCHECGKK
19:58868496-58868496 T>G	1.0	4071	COLON	-	-	-	-	ZNF497	NM_001207009,p.K169T|ENST00000425453,p.K169T|NM_198458,p.K169T|uc002qsh.2,p.K169T|uc021vcw.1,p.K169T|uc002qsi.2,p.K169T|ENST00000311044,p.K169T	protein_coding	uc021vcw.1	nonsynonymous SNV	exon1	c.A506C	p.K169T	SGEKPYACRECGKAFRAHSQLIHHQ	SGEKPYACRECGTAFRAHSQLIHHQ	2.0	4.0	-	-	4071_19:58868496-58868496 T>G_SGEKPYACRECGTAFRAHSQLIHHQ
2:157182411-157182411 G>A	1.0	4071	COLON	-	-	-	-	NR4A2	ENST00000539077,p.R559C|ENST00000426264,p.R485C|uc010zcf.2,p.R548C|NM_006186,p.R548C|uc021vri.1,p.R523C|uc002tyz.4,p.R548C|ENST00000339562,p.R548C|ENST00000409572,p.R548C|uc002tyx.4,p.R485C	protein_coding, nonsense_mediated_decay	uc021vri.1	nonsynonymous SNV	exon6	c.C1567T	p.R523C	KDHVTFNNGGLNRPNYLSKLLGKLP	KDHVTFNNGGLNCPNYLSKLLGKLP	5.0	2.0	-	-	4071_2:157182411-157182411 G>A_KDHVTFNNGGLNCPNYLSKLLGKLP
7:141861001-141861001 G>A	1.0	4071	COLON	-	-	-	-	LOC93432	ENST00000477922,p.G808S|NM_001293626,p.G808S	retained_intron, protein_coding	NM_001293626	nonsynonymous SNV	exon22	c.G2422A	p.G808S	KREAKGELYWDDGVSKDAVTEKKYI	KREAKGELYWDDSVSKDAVTEKKYI	5.0	10.0	-	-	4071_7:141861001-141861001 G>A_KREAKGELYWDDSVSKDAVTEKKYI
7:155251603-155251603 G>-	0.0	4071	COLON	-	-	-	-	EN2	ENST00000297375,p.L177fs|NM_001427,p.L177fs|uc003wmb.3,p.L177fs	protein_coding	uc003wmb.3	frameshift deletion	exon1	c.531delG	p.L177fs	GGAKKGGDPGGPLDGSLKARGLGGG	GGAKKGGDPGGPLTGRSRPAAWAAATCR	1.0	1.0	unscreened	-	4071_7:155251603-155251603 G>-_GGAKKGGDPGGPLTGRSRPAAWAAATCR
10:114920450-114920450 G>C	1.0	4071	COLON	-	-	ID=COSM1345851;OCCURENCE=1(large_intestine)	1	TCF7L2	uc010qrr.2,p.R396T|NM_001146274,p.R464T|ENST00000545257,p.R481T|uc001lae.4,p.R464T|ENST00000543371,p.R464T|uc021pyk.1,p.R446T|uc010qrt.2,p.R352T|uc021pyn.1,p.R469T|uc010qrl.2,p.R441T|NM_001198526,p.R441T	protein_coding, processed_transcript, nonsense_mediated_decay	uc021pyn.1	nonsynonymous SNV	exon13	c.G1406C	p.R469T	GLDRQTLWCKPCRRKKKCVRYIQGE	GLDRQTLWCKPCTRKKKCVRYIQGE	8.0	7.0	-	-	4071_10:114920450-114920450 G>C_GLDRQTLWCKPCTRKKKCVRYIQGE
20:47589750-47589750 C>T	1.0	4071	COLON	-	-	-	-	ARFGEF2	NM_006420,p.R532C|uc002xtx.4,p.R532C|ENST00000371917,p.R532C	protein_coding, processed_transcript	uc002xtx.4	nonsynonymous SNV	exon12	c.C1594T	p.R532C	YDCDLNAANIFERLVNDLSKIAQGR	YDCDLNAANIFECLVNDLSKIAQGR	8.0	6.0	-	-	4071_20:47589750-47589750 C>T_YDCDLNAANIFECLVNDLSKIAQGR
10:61835306-61835306 A>C	0.0	4071	COLON	-	-	-	-	ANK3	NM_020987,p.L1778R|uc001jky.3,p.L1778R|ENST00000280772,p.L1778R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jky.3	nonsynonymous SNV	exon37	c.T5333G	p.L1778R	VFSTTTAMPFSPLRSYVSAAPSAFQ	VFSTTTAMPFSPRRSYVSAAPSAFQ	7.0	4.0	unscreened	-	4071_10:61835306-61835306 A>C_VFSTTTAMPFSPRRSYVSAAPSAFQ
11:65766842-65766842 T>A	1.0	4071	COLON	-	-	-	-	EIF1AD	ENST00000527249,p.E111V|NM_001242486,p.E111V|NM_001242483,p.E111V|NM_001242484,p.E111V|NM_001242482,p.E111V|uc021qlt.1,p.E111V|uc021qlr.1,p.E111V|ENST00000526451,p.E111V|uc001ogm.2,p.E111V|uc021qlu.1,p.E111V|ENST00000533544,p.E111V|uc021qls.1,p.E111V|NM_001242485,p.E111V|NM_032325,p.E111V|ENST00000525767,p.E59V|uc001ogn.2,p.E111V|ENST00000312234,p.E111V|uc021qlv.1,p.E111V|ENST00000529964,p.E111V|NM_001242481,p.E111V	retained_intron, protein_coding, nonsense_mediated_decay	uc021qlv.1	nonsynonymous SNV	exon5	c.A332T	p.E111V	EGFWPEAFSEVAEKHNNRNRQTQPE	EGFWPEAFSEVAVKHNNRNRQTQPE	7.0	5.0	-	-	4071_11:65766842-65766842 T>A_EGFWPEAFSEVAVKHNNRNRQTQPE
2:204161570-204161570 A>T	0.0	4071	COLON	-	-	-	-	CYP20A1	uc002uzx.4,p.K341M|NM_177538,p.K443M|ENST00000429815,p.K451M|ENST00000356079,p.K443M|uc010zif.2,p.K451M|uc002uzy.4,p.K341M|uc002uzv.4,p.K443M|uc010ftw.3,p.K173M	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zif.2	nonsynonymous SNV	exon13	c.A1352T	p.K451M	HLLSVEGQVIETKYELVTSSREEAW	HLLSVEGQVIETMYELVTSSREEAW	7.0	8.0	unscreened	-	4071_2:204161570-204161570 A>T_HLLSVEGQVIETMYELVTSSREEAW
8:12043032-12043032 C>A	0.0	4071	COLON	-	rs199637314	-	-	FAM86B1	ENST00000530385,p.R78L|ENST00000534520,p.R126L|ENST00000340537,p.R126L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000534520	nonsynonymous SNV	exon5	c.G377T	p.R126L	WAIENPAAFINRRAVLPRSHRVAGR	WAIENPAAFINRLAVLPRSHRVAGR	5.0	8.0	unscreened	-	4071_8:12043032-12043032 C>A_WAIENPAAFINRLAVLPRSHRVAGR
20:61444315-61444315 A>T	1.0	4071	COLON	-	-	-	-	OGFR	ENST00000370461,p.R398W|uc002ydj.3,p.R450W|uc002ydl.3,p.R398W|uc002ydk.3,p.R433W|NM_007346,p.R450W|ENST00000290291,p.R450W	protein_coding	uc002ydl.3	nonsynonymous SNV	exon5	c.A1192T	p.R398W	EAVQPCRQPLGARVADKVRKRRKVD	EAVQPCRQPLGAWVADKVRKRRKVD	9.0	1.0	-	-	4071_20:61444315-61444315 A>T_EAVQPCRQPLGAWVADKVRKRRKVD
17:80529652-80529652 C>T	1.0	4071	COLON	-	-	-	-	FOXK2	ENST00000526383,p.T152M|uc002kfm.1,p.T272M|ENST00000335255,p.T272M|uc002kfn.3,p.T272M|NM_004514,p.T272M|ENST00000473637,p.T272M|uc010diu.3,p.T272M|ENST00000531030,p.T83M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc010diu.3	nonsynonymous SNV	exon4	c.C815T	p.T272M	PYSYAQLIVQAITMAPDKQLTLNGI	PYSYAQLIVQAIMMAPDKQLTLNGI	9.0	9.0	-	-	4071_17:80529652-80529652 C>T_PYSYAQLIVQAIMMAPDKQLTLNGI
3:180320119-180320119 G>A	1.0	4071	COLON	-	-	-	-	TTC14	uc003fkk.3,p.E24K|NM_133462,p.E24K|NM_001042601,p.E24K|ENST00000470669,p.E24K|ENST00000491380,p.E24K|uc003fkm.2,p.E24K|ENST00000462895,p.E24K|ENST00000412756,p.E24K|ENST00000296015,p.E24K|uc003fkl.3,p.E24K|NM_001288582,p.E24K|ENST00000465065,p.E24K|ENST00000382584,p.E24K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003fkm.2	nonsynonymous SNV	exon1	c.G70A	p.E24K	CHGSSLLSLLRSEQQDNPHFRSLLG	CHGSSLLSLLRSKQQDNPHFRSLLG	7.0	4.0	-	-	4071_3:180320119-180320119 G>A_CHGSSLLSLLRSKQQDNPHFRSLLG
5:110428042-110428042 C>T	1.0	4071	COLON	-	-	-	-	WDR36	ENST00000513710,p.A19V|ENST00000506538,p.A19V|NM_139281,p.A19V|uc003kpd.3,p.A19V	retained_intron, protein_coding	uc003kpd.3	nonsynonymous SNV	exon1	c.C56T	p.A19V	SLRKRDSQRAPEAVLCLQLWQRTVP	SLRKRDSQRAPEVVLCLQLWQRTVP	7.0	5.0	unscreened	-	4071_5:110428042-110428042 C>T_SLRKRDSQRAPEVVLCLQLWQRTVP
1:71542504-71542504 T>G	1.0	4071	COLON	-	-	-	-	ZRANB2	ENST00000254821,p.K92T|NM_203350,p.K92T|uc001dft.3,p.K92T|ENST00000370920,p.K92T|NM_005455,p.K92T|uc001dfs.3,p.K92T	protein_coding, processed_transcript	uc001dft.3	nonsynonymous SNV	exon4	c.A275C	p.K92T	ARRSECNMCNTPKYAKLEERTGYGG	ARRSECNMCNTPTYAKLEERTGYGG	9.0	6.0	-	-	4071_1:71542504-71542504 T>G_ARRSECNMCNTPTYAKLEERTGYGG
6:52268769-52268771 TCT>-	1.0	4071	COLON	-	-	-	-	PAQR8	uc021zal.1,p.253_254del|uc003pao.4,p.253_254del|ENST00000360726,p.253_254del|ENST00000442253,p.253_254del|NM_133367,p.253_254del	protein_coding	uc021zal.1	nonframeshift deletion	exon1	c.758_760del	p.253_254del	QEQAAWYHTLQILFFLVSAYFFSCP	QEQAAWYHTLQILFLVSAYFFSCPV	8.0	9.0	unscreened	-	4071_6:52268769-52268771 TCT>-_QEQAAWYHTLQILFLVSAYFFSCPV
11:59426888-59426888 G>C	1.0	4071	COLON	-	-	-	-	PATL1	uc001noe.4,p.P61R|NM_152716,p.P61R|uc009yms.1,p.P61R|ENST00000300146,p.P61R	retained_intron, protein_coding	uc009yms.1	nonsynonymous SNV	exon3	c.C182G	p.P61R	AHERLAELEEKLPVAVNEQTGNGER	AHERLAELEEKLRVAVNEQTGNGER	8.0	5.0	-	-	4071_11:59426888-59426888 G>C_AHERLAELEEKLRVAVNEQTGNGER
X:54585064-54585066 AAG>-	1.0	4071	COLON	-	-	-	-	GNL3L	ENST00000360845,p.548_548del|uc004dth.2,p.548_548del|NM_001184819,p.548_548del|ENST00000336470,p.548_548del|NM_019067,p.548_548del|uc022bxi.1,p.548_548del	protein_coding, processed_transcript	uc022bxi.1	nonframeshift deletion	exon15	c.1642_1644del	p.548_548del	QQGQALASALKNKKKMQKRADKIAS	QQGQALASALKNKKMQKRADKIASK	8.0	9.0	unscreened	-	4071_X:54585064-54585066 AAG>-_QQGQALASALKNKKMQKRADKIASK
15:63967021-63967021 T>A	1.0	4071	COLON	-	-	-	-	HERC1	ENST00000443617,p.S2456C|NM_003922,p.S2456C|uc002amp.3,p.S2456C	retained_intron, protein_coding, nonsense_mediated_decay	uc002amp.3	nonsynonymous SNV	exon38	c.A7366T	p.S2456C	LTSDDVKSQSTTSSKSENEIASFSL	LTSDDVKSQSTTCSKSENEIASFSL	9.0	9.0	-	-	4071_15:63967021-63967021 T>A_LTSDDVKSQSTTCSKSENEIASFSL
12:110924190-110924190 G>A	0.0	4071	COLON	-	-	-	-	FAM216A	NM_013300,p.A123T|uc010sxz.1,p.A28T|ENST00000377673,p.A123T|uc001tqu.4,p.A123T|uc009zvo.2,p.A123T	protein_coding, nonsense_mediated_decay	uc010sxz.1	nonsynonymous SNV	exon4	c.G82A	p.A28T	KRYLCSIAKIYNANYLKMLMKRQYM	KRYLCSIAKIYNTNYLKMLMKRQYM	3.0	10.0	unscreened	-	4071_12:110924190-110924190 G>A_KRYLCSIAKIYNTNYLKMLMKRQYM
18:44774837-44774837 G>A	0.0	4071	COLON	-	-	-	-	SKOR2	ENST00000425639,p.R240C|uc031rif.1,p.R240C|NM_001278063,p.R240C|NM_001037802,p.R240C|ENST00000400404,p.R240C|uc010dnt.2,p.R240C	protein_coding	uc031rif.1	nonsynonymous SNV	exon1	c.C718T	p.R240C	WEDVKAMFNGGSRKRALPQPGAHPA	WEDVKAMFNGGSCKRALPQPGAHPA	1.0	9.0	unscreened	-	4071_18:44774837-44774837 G>A_WEDVKAMFNGGSCKRALPQPGAHPA
4:186320777-186320777 T>A	1.0	4071	COLON	-	-	-	-	ANKRD37	NM_181726,p.F109Y|uc003ixm.3,p.F109Y|ENST00000335174,p.F109Y|uc011cks.2,p.F109Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cks.2	nonsynonymous SNV	exon4	c.T326A	p.F109Y	GQTAEDLAWSCGFPDCAKFLTTIKC	GQTAEDLAWSCGYPDCAKFLTTIKC	5.0	10.0	-	-	4071_4:186320777-186320777 T>A_GQTAEDLAWSCGYPDCAKFLTTIKC
1:151751416-151751416 T>G	1.0	4071	COLON	-	-	-	-	TDRKH	ENST00000368823,p.T206P|ENST00000368822,p.T210P|ENST00000368824,p.T210P|uc001ezc.4,p.T165P|NM_001083965,p.T210P|ENST00000368827,p.T210P|uc001ezd.4,p.T210P|uc009wnb.1,p.T210P|uc001eza.4,p.T210P|ENST00000458431,p.T210P|ENST00000368825,p.T165P|NM_001083964,p.T165P|NM_001083963,p.T210P|uc001ezb.4,p.T206P|NM_006862,p.T210P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009wnb.1	nonsynonymous SNV	exon6	c.A628C	p.T210P	EELRKRIAHSAETRVPRKQPISVRR	EELRKRIAHSAEPRVPRKQPISVRR	5.0	9.0	-	-	4071_1:151751416-151751416 T>G_EELRKRIAHSAEPRVPRKQPISVRR
22:23492263-23492263 A>T	0.0	4071	COLON	-	-	-	-	RAB36	NM_004914,p.E94V|ENST00000341989,p.E94V|uc002zwv.1,p.E94V|uc010gtw.1,p.E94V|ENST00000263116,p.E94V	protein_coding	uc010gtw.1	nonsynonymous SNV	exon3	c.A281T	p.E94V	RVIASFPKWYTPEACLQLREHFHGQ	RVIASFPKWYTPVACLQLREHFHGQ	4.0	9.0	unscreened	-	4071_22:23492263-23492263 A>T_RVIASFPKWYTPVACLQLREHFHGQ
10:85974343-85974345 AGA>-	1.0	4071	COLON	0.01	-	-	-	CDHR1	uc001kcv.3,p.849_850del|ENST00000440770,p.553_554del|ENST00000372117,p.849_850del|NM_033100,p.849_850del|uc009xst.3,p.553_554del|uc001kcx.3,p.163_164del	protein_coding, processed_transcript	uc009xst.3	nonframeshift deletion	exon10	c.1658_1660del	p.553_554del	QSTLISELKQKFEKKSVHNKAYF	QSTLISELKQKFEKSVHNKAYF	7.0	2.0	unscreened	-	4071_10:85974343-85974345 AGA>-_QSTLISELKQKFEKSVHNKAYF
8:145579809-145579809 T>C	0.0	4071	COLON	-	-	-	-	FBXL6	ENST00000455319,p.S425G|ENST00000331890,p.S431G|uc003zcb.3,p.S431G|uc003zbz.3,p.S158G|uc010mfx.3,p.S192G|NM_024555,p.S425G|NM_012162,p.S431G|uc003zca.3,p.S425G	retained_intron, protein_coding, processed_transcript	uc010mfx.3	nonsynonymous SNV	exon7	c.A574G	p.S192G	GTSDRLTLAKEGSPFLTQKWCHTLR	GTSDRLTLAKEGGPFLTQKWCHTLR	6.0	1.0	unscreened	-	4071_8:145579809-145579809 T>C_GTSDRLTLAKEGGPFLTQKWCHTLR
10:18931426-18931426 A>C	1.0	4071	COLON	-	-	-	-	NSUN6	ENST00000377304,p.L97R|NM_182543,p.L97R|uc010qcp.1,p.L97R	 processed_transcript,protein_coding	uc010qcp.1	nonsynonymous SNV	exon3	c.T290G	p.L97R	PILQHPDLQDVLLIPVIGPRKNIKK	PILQHPDLQDVLRIPVIGPRKNIKK	5.0	6.0	-	-	4071_10:18931426-18931426 A>C_PILQHPDLQDVLRIPVIGPRKNIKK
6:89601552-89601552 T>G	1.0	4071	COLON	-	-	-	-	RNGTT	uc003pmt.2,p.K256T|ENST00000538899,p.K196T|NM_001286426,p.K256T|NM_001286428,p.K196T|ENST00000369485,p.K256T|uc003pmr.2,p.K256T|uc003pms.2,p.K256T|NM_003800,p.K256T|ENST00000265607,p.K256T|uc011dzu.1,p.K196T|ENST00000369475,p.K256T	protein_coding	uc011dzu.1	nonsynonymous SNV	exon6	c.A587C	p.K196T	VTTQPKLGEVQQKCHQFCGWEGSGF	VTTQPKLGEVQQTCHQFCGWEGSGF	6.0	5.0	-	-	4071_6:89601552-89601552 T>G_VTTQPKLGEVQQTCHQFCGWEGSGF
21:44179152-44179152 T>G	1.0	4071	COLON	-	-	-	-	PDE9A	uc002zbq.3,p.V183G|NM_001001575,p.V125G|ENST00000398225,p.V244G|NM_001001578,p.V183G|ENST00000398236,p.V199G|uc002zcd.3,p.V199G|ENST00000398227,p.V125G|uc002zbm.3,p.V285G|NM_001001569,p.V157G|uc002zcg.3,p.V78G|uc002zbw.3,p.V68G|NM_001001584,p.V78G|NM_001001582,p.V244G|ENST00000291539,p.V285G|NM_001001576,p.V68G|NM_001001579,p.V78G|ENST00000335440,p.V183G|ENST00000398224,p.V158G|ENST00000335512,p.V225G|uc002zca.3,p.V244G|uc002zcc.3,p.V184G|uc002zbx.3,p.V225G|NM_001001577,p.V151G|NM_001001581,p.V218G|uc002zbt.3,p.V157G|NM_001001567,p.V225G|uc002zby.3,p.V68G|uc002zbr.3,p.V78G|NM_001001574,p.V199G|NM_001001585,p.V78G|NM_001001570,p.V232G|uc002zbs.3,p.V78G|uc002zbv.3,p.V125G|NM_002606,p.V285G|ENST00000398232,p.V218G|uc002zbo.3,p.V232G|uc002zce.3,p.V218G|uc002zbn.3,p.V158G|NM_001001572,p.V78G|NM_001001568,p.V158G|ENST00000328862,p.V259G|NM_001001583,p.V259G|NM_001001573,p.V78G|uc010gpf.1,p.V78G|ENST00000398229,p.V151G|uc002zbu.3,p.V151G|ENST00000349112,p.V157G|ENST00000539837,p.V157G|ENST00000398234,p.V184G|NM_001001571,p.V184G|ENST00000380328,p.V232G|NM_001001580,p.V68G|uc002zcf.3,p.V78G|uc002zbp.3,p.V78G|uc002zbz.3,p.V177G|uc002zcb.3,p.V259G	retained_intron, protein_coding, processed_transcript	uc010gpf.1	nonsynonymous SNV	exon5	c.T233G	p.V78G	SCLEHMYHDLGLVRDFSINPVTLRR	SCLEHMYHDLGLGRDFSINPVTLRR	7.0	6.0	-	-	4071_21:44179152-44179152 T>G_SCLEHMYHDLGLGRDFSINPVTLRR
10:55582396-55582396 G>A	0.0	4071	COLON	-	-	-	-	PCDH15	uc010qib.1,p.S1674F|ENST00000320301,p.S1697F|NM_001142768,p.S1677F|uc021pqy.1,p.S1699F|NM_001142763,p.S1704F|uc010qia.1,p.S1677F|NM_001142773,p.S1674F|ENST00000395433,p.S1674F|NM_033056,p.S1697F|uc010qhy.1,p.S1704F|ENST00000395432,p.S1657F|uc010qhx.1,p.S1628F|uc010qhz.1,p.S1699F|ENST00000395430,p.S1694F|NM_001142765,p.S1628F|NM_001142766,p.S1694F|uc010qhw.1,p.S1657F|ENST00000437009,p.S1628F|uc010qhv.1,p.S1694F|NM_001142767,p.S1657F|uc021pqz.1,p.S1674F|NM_001142764,p.S1699F|uc001jju.1,p.S1697F|ENST00000361849,p.S1699F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqz.1	nonsynonymous SNV	exon31	c.C5021T	p.S1674F	SEPNVISSPAECSLELSPSRPCVLH	SEPNVISSPAECFLELSPSRPCVLH	3.0	7.0	unscreened	-	4071_10:55582396-55582396 G>A_SEPNVISSPAECFLELSPSRPCVLH
16:3100060-3100060 G>A	0.0	4071	COLON	-	-	-	-	MMP25	ENST00000336577,p.V95M|uc002cti.1,p.V31M|NM_022468,p.V95M|uc002cth.3,p.V95M	retained_intron, protein_coding, processed_transcript	uc002cti.1	nonsynonymous SNV	exon2	c.G91A	p.V31M	ATMRKPRCSLPDVLGVAGLVRRRRR	ATMRKPRCSLPDMLGVAGLVRRRRR	1.0	3.0	unscreened	-	4071_16:3100060-3100060 G>A_ATMRKPRCSLPDMLGVAGLVRRRRR
21:37833532-37833532 G>T	0.0	4071	COLON	-	-	-	-	CLDN14	ENST00000342108,p.S154R|uc002yvo.1,p.S154R|ENST00000399137,p.S154R|uc002yvm.1,p.S154R|ENST00000399136,p.S154R|uc002yvl.1,p.S154R|NM_001146079,p.S154R|ENST00000399135,p.S154R|NM_012130,p.S154R|uc021wja.1,p.S154R|NM_144492,p.S154R|uc002yvn.2,p.S154R|NM_001146077,p.S154R|NM_001146078,p.S154R|ENST00000399139,p.S154R|uc002yvk.2,p.S154R	protein_coding, processed_transcript	uc021wja.1	nonsynonymous SNV	exon1	c.C462A	p.S154R	DVVQNFYNPLLPSGMKFEIGQALYL	DVVQNFYNPLLPRGMKFEIGQALYL	1.0	10.0	unscreened	-	4071_21:37833532-37833532 G>T_DVVQNFYNPLLPRGMKFEIGQALYL
1:47498982-47498982 A>G	0.0	4071	COLON	-	-	-	-	CYP4X1	uc001cqt.3,p.H145R|uc001cqs.3,p.H80R|ENST00000538609,p.H144R|uc001cqr.3,p.H144R|ENST00000371901,p.H145R|NM_178033,p.H145R	protein_coding, processed_transcript	uc001cqt.3	nonsynonymous SNV	exon4	c.A434G	p.H145R	WFQHRRLLTPGFHFNILKAYIEVMA	WFQHRRLLTPGFRFNILKAYIEVMA	3.0	6.0	unscreened	-	4071_1:47498982-47498982 A>G_WFQHRRLLTPGFRFNILKAYIEVMA
5:92956835-92956835 C>A	0.0	4071	COLON	-	-	-	-	FAM172A	NM_001163417,p.G324V|uc011cuf.2,p.G324V|uc011cug.2,p.G260V|uc011cuh.2,p.G223V|uc010jbd.3,p.G370V|ENST00000509739,p.G223V|NM_001163418,p.G260V|ENST00000509163,p.G324V|ENST00000505869,p.G260V|ENST00000395965,p.G370V|NM_032042,p.G370V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cuh.2	nonsynonymous SNV	exon9	c.G668T	p.G223V	ESMLPDCPRVSAGTDRHELTSWKSF	ESMLPDCPRVSAVTDRHELTSWKSF	6.0	6.0	unscreened	-	4071_5:92956835-92956835 C>A_ESMLPDCPRVSAVTDRHELTSWKSF
15:48541792-48541792 C>A	0.0	4071	COLON	-	-	-	-	SLC12A1	NM_001184832,p.P569T|ENST00000396577,p.P569T|uc010uew.1,p.P375T|ENST00000558405,p.P569T|NM_000338,p.P569T|uc001zwq.4,p.P340T|uc001zwr.4,p.P296T|uc001zwn.4,p.P569T|ENST00000559641,p.P382T|ENST00000380993,p.P569T|uc010bem.3,p.P569T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uew.1	nonsynonymous SNV	exon13	c.C1123A	p.P375T	AFILIAELNTIAPIISNFFLASYAL	AFILIAELNTIATIISNFFLASYAL	1.0	5.0	unscreened	-	4071_15:48541792-48541792 C>A_AFILIAELNTIATIISNFFLASYAL
6:143092627-143092627 T>G	1.0	4071	COLON	-	-	-	-	HIVEP2	ENST00000367604,p.Q1083H|NM_006734,p.Q1083H|ENST00000012134,p.Q1083H|uc003qjd.3,p.Q1083H|ENST00000367603,p.Q1083H	protein_coding, processed_transcript	uc003qjd.3	nonsynonymous SNV	exon5	c.A3249C	p.Q1083H	PSRERKKCFLVRQASFSGSPEISQG	PSRERKKCFLVRHASFSGSPEISQG	7.0	4.0	-	-	4071_6:143092627-143092627 T>G_PSRERKKCFLVRHASFSGSPEISQG
5:39289037-39289037 T>G	0.0	4071	COLON	-	-	-	-	C9	ENST00000263408,p.N478T|uc003jlv.4,p.N478T|NM_001737,p.N478T	retained_intron, protein_coding, processed_transcript	uc003jlv.4	nonsynonymous SNV	exon10	c.A1433C	p.N478T	PVLISQKLSPIYNLVPVKMKNAHLK	PVLISQKLSPIYTLVPVKMKNAHLK	1.0	4.0	unscreened	-	4071_5:39289037-39289037 T>G_PVLISQKLSPIYTLVPVKMKNAHLK
9:135863733-135863733 T>G	0.0	4071	COLON	-	-	-	-	GFI1B	ENST00000372123,p.F130V|uc010mzy.3,p.F130V|ENST00000372122,p.F130V|ENST00000534944,p.F130V|NM_001135031,p.F130V|NM_004188,p.F130V|ENST00000372124,p.F130V|ENST00000339463,p.F130V|ENST00000450530,p.F130V|uc004ccg.3,p.F130V	protein_coding	uc010mzy.3	nonsynonymous SNV	exon4	c.T388G	p.F130V	SYRQAPSTMQSAFLEHSVSLYGSPL	SYRQAPSTMQSAVLEHSVSLYGSPL	1.0	2.0	unscreened	-	4071_9:135863733-135863733 T>G_SYRQAPSTMQSAVLEHSVSLYGSPL
10:22649793-22649793 G>A	0.0	4071	COLON	-	-	-	-	SPAG6	uc010qct.2,p.A15T|ENST00000538630,p.A15T|NM_001253854,p.A15T	protein_coding, processed_transcript	uc010qct.2	nonsynonymous SNV	exon5	c.G43A	p.A15T	SLTMDLWIPNGQAGVMSLLRTLLLD	SLTMDLWIPNGQTGVMSLLRTLLLD	1.0	8.0	unscreened	-	4071_10:22649793-22649793 G>A_SLTMDLWIPNGQTGVMSLLRTLLLD
17:39305775-39305775 ->GGCAGCAGCTGGGGC	0.0	4071	COLON	-	-	-	-	KRTAP4-5	ENST00000343246,p.Q82delinsRPSCCQ|NM_033188,p.Q82delinsRPSCCQ|uc002hwb.3,p.Q82delinsRPSCCQ	protein_coding	uc002hwb.3	nonframeshift insertion	exon1	c.244_245insGCCCCAGCTGCTGCC	p.Q82delinsRPSCCQ	CCESSCCRPCCCQTTCCRTTCCRTT	CCESSCCRPCCCRPSCCQTTCCRTT	1.0	8.0	unscreened	-	4071_17:39305775-39305775 ->GGCAGCAGCTGGGGC_CCESSCCRPCCCRPSCCQTTCCRTT
21:41719866-41719866 A>C	0.0	4071	COLON	-	-	-	-	DSCAM	ENST00000400454,p.L314R|NM_001271534,p.L314R|uc031rvr.1,p.L314R|NM_001389,p.L314R|ENST00000404019,p.L66R|uc002yyq.1,p.L314R	protein_coding	uc031rvr.1	nonsynonymous SNV	exon6	c.T941G	p.L314R	AKVIGRLYVKQPLKATISPRKVKSS	AKVIGRLYVKQPRKATISPRKVKSS	1.0	3.0	unscreened	-	4071_21:41719866-41719866 A>C_AKVIGRLYVKQPRKATISPRKVKSS
14:39901069-39901069 C>G	0.0	4071	COLON	-	-	-	-	FBXO33	ENST00000298097,p.E100Q|uc001wvk.3,p.E100Q|NM_203301,p.E100Q	protein_coding	uc001wvk.3	nonsynonymous SNV	exon1	c.G298C	p.E100Q	RLRASASCSHWRECLFYPALWPQLR	RLRASASCSHWRQCLFYPALWPQLR	6.0	5.0	unscreened	-	4071_14:39901069-39901069 C>G_RLRASASCSHWRQCLFYPALWPQLR
7:82538239-82538239 G>A	0.0	4071	COLON	-	-	-	-	PCLO	NM_014510,p.P4464L|NM_033026,p.P4464L|ENST00000423517,p.P4464L|uc003uhv.2,p.P4464L|ENST00000333891,p.P4464L|uc003uhx.2,p.P4464L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon8	c.C13391T	p.P4464L	RLENGHGLDRKLPERLVHSRPLSQH	RLENGHGLDRKLLERLVHSRPLSQH	5.0	4.0	unscreened	-	4071_7:82538239-82538239 G>A_RLENGHGLDRKLLERLVHSRPLSQH
11:1585119-1585119 T>G	1.0	4071	COLON	-	-	-	-	DUSP8	uc001lts.2,p.K111T|ENST00000331588,p.K111T|NM_004420,p.K111T|ENST00000397374,p.K111T	protein_coding, processed_transcript	uc001lts.2	nonsynonymous SNV	exon3	c.A332C	p.K111T	LAADSFLSILLSKLDGCFDSVAILT	LAADSFLSILLSTLDGCFDSVAILT	5.0	6.0	-	-	4071_11:1585119-1585119 T>G_LAADSFLSILLSTLDGCFDSVAILT
20:60990933-60990933 G>A	0.0	4071	COLON	-	-	-	-	RBBP8NL	ENST00000252998,p.P152L|NM_080833,p.P152L|uc002ycw.2,p.P152L	protein_coding	uc002ycw.2	nonsynonymous SNV	exon7	c.C455T	p.P152L	TSDPPSPLLLPSPGGWKAITEKPPG	TSDPPSPLLLPSLGGWKAITEKPPG	4.0	1.0	unscreened	-	4071_20:60990933-60990933 G>A_TSDPPSPLLLPSLGGWKAITEKPPG
17:19559841-19559841 A>C	1.0	4071	COLON	-	-	-	-	ALDH3A2	ENST00000571537,p.S43R|ENST00000581518,p.S212R|ENST00000579855,p.S212R|NM_001031806,p.S212R|NM_000382,p.S212R|ENST00000582991,p.S212R|uc002gwb.1,p.S212R|uc010cqr.1,p.S19R|uc002gwa.1,p.S212R|ENST00000176643,p.S212R|ENST00000395575,p.S212R|uc002gwd.1,p.S19R|ENST00000339618,p.S212R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cqr.1	nonsynonymous SNV	exon5	c.A55C	p.S19R	HLTPVTLELGGKSPCYIDKDCDLDI	HLTPVTLELGGKRPCYIDKDCDLDI	9.0	5.0	-	-	4071_17:19559841-19559841 A>C_HLTPVTLELGGKRPCYIDKDCDLDI
8:105160883-105160883 G>T	0.0	4071	COLON	-	-	-	-	RIMS2	uc003yls.3,p.K1065N|ENST00000436393,p.K1065N|ENST00000408894,p.K1054N|uc003ylw.2,p.K1054N	retained_intron, protein_coding, processed_transcript	uc003ylw.2	nonsynonymous SNV	exon22	c.G3162T	p.K1054N	SKMQSRQMGISGKNMTKSTSISGDM	SKMQSRQMGISGNNMTKSTSISGDM	1.0	1.0	unscreened	-	4071_8:105160883-105160883 G>T_SKMQSRQMGISGNNMTKSTSISGDM
11:20959354-20959354 A>T	0.0	4071	COLON	-	-	-	-	NELL1	NM_001288714,p.K283N|uc010rdp.2,p.K100N|uc001mqf.3,p.K340N|NM_001288713,p.K368N|ENST00000325319,p.K283N|NM_006157,p.K340N|ENST00000357134,p.K340N|uc001mqe.3,p.K340N|uc009yid.3,p.K368N|ENST00000298925,p.K368N|NM_201551,p.K340N|ENST00000532434,p.K340N|uc010rdo.2,p.K283N	retained_intron, protein_coding, processed_transcript	uc010rdp.2	nonsynonymous SNV	exon7	c.A300T	p.K100N	CKVCRPKCIYGGKVLAEGQRILTKS	CKVCRPKCIYGGNVLAEGQRILTKS	1.0	4.0	unscreened	-	4071_11:20959354-20959354 A>T_CKVCRPKCIYGGNVLAEGQRILTKS
13:111277546-111277546 T>G	1.0	4071	COLON	-	-	-	-	CARKD	ENST00000309957,p.L103V|uc010tjj.2,p.L85V|NM_018210,p.L103V|uc001vrc.3,p.L103V|NM_001242881,p.L103V|uc001vrb.3,p.L103V|NM_001242882,p.L85V	protein_coding, processed_transcript	uc010tjj.2	nonsynonymous SNV	exon4	c.T253G	p.L85V	FAAISALKVGADLSHVFCASAAAPV	FAAISALKVGADVSHVFCASAAAPV	7.0	3.0	-	-	4071_13:111277546-111277546 T>G_FAAISALKVGADVSHVFCASAAAPV
6:109770603-109770603 C>T	0.0	4071	COLON	-	-	-	-	MICAL1	NM_001159291,p.G420R|NM_022765,p.G506R|uc011eaq.2,p.G525R|ENST00000368952,p.G525R|NM_001286613,p.G525R|uc010kdr.3,p.G420R|uc003ptk.3,p.G506R|ENST00000358577,p.G420R|uc003ptj.3,p.G506R|ENST00000358807,p.G506R	retained_intron, protein_coding, processed_transcript	uc011eaq.2	nonsynonymous SNV	exon11	c.G1573A	p.G525R	NNDKTDTGMPATGSAGTQEELLRWC	NNDKTDTGMPATRSAGTQEELLRWC	8.0	2.0	unscreened	-	4071_6:109770603-109770603 C>T_NNDKTDTGMPATRSAGTQEELLRWC
2:215876223-215876223 A>C	0.0	4071	COLON	-	-	-	-	ABCA12	uc002vew.3,p.L758V|NM_015657,p.L440V|NM_173076,p.L758V|ENST00000389661,p.L440V|ENST00000272895,p.L758V|uc002vev.3,p.L440V	protein_coding	uc002vew.3	nonsynonymous SNV	exon17	c.T2272G	p.L758V	SQRPKGNHTKDFLTYKLTKEQIASK	SQRPKGNHTKDFVTYKLTKEQIASK	1.0	1.0	unscreened	-	4071_2:215876223-215876223 A>C_SQRPKGNHTKDFVTYKLTKEQIASK
2:202505647-202505647 G>A	0.0	4071	COLON	-	-	-	-	TMEM237	NM_152388,p.R7C|uc021vve.2,p.R7C|ENST00000409444,p.R7C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vve.2	nonsynonymous SNV	exon2	c.C19T	p.R7C	MGKNPVRPPRALPPVPSQD	MGKNPVCPPRALPPVPSQD	4.0	7.0	unscreened	-	4071_2:202505647-202505647 G>A_MGKNPVCPPRALPPVPSQD
1:148024720-148024720 G>T	1.0	4071	COLON	-	-	-	-	NBPF8	uc001eqf.4,p.L433I|NM_001037501,p.L433I|ENST00000369219,p.L93I|uc001eqq.3,p.L93I	protein_coding	uc001eqq.3	nonsynonymous SNV	exon2	c.C277A	p.L93I	EGCRLAQHLVQKLSPENDNDDDEDV	EGCRLAQHLVQKISPENDNDDDEDV	8.0	1.0	-	-	4071_1:148024720-148024720 G>T_EGCRLAQHLVQKISPENDNDDDEDV
7:4188990-4188990 C>T	0.0	4071	COLON	-	-	-	-	SDK1	ENST00000404826,p.S1507F|uc003smx.3,p.S1507F|ENST00000389531,p.S1507F|uc010kso.3,p.S783F|NM_152744,p.S1507F	retained_intron, protein_coding, processed_transcript	uc010kso.3	nonsynonymous SNV	exon16	c.C2348T	p.S783F	LRLQWVPGSDGASPIRYFTMQVREL	LRLQWVPGSDGAFPIRYFTMQVREL	4.0	3.0	unscreened	-	4071_7:4188990-4188990 C>T_LRLQWVPGSDGAFPIRYFTMQVREL
8:12043032-12043032 C>A	0.0	4071	COLON	-	rs199637314	-	-	FAM86B1	uc011kxq.2,p.V21L|uc003wvh.4,p.V58L|uc010lsf.3,p.V58L|uc003wvi.4,p.V21L|ENST00000321602,p.V21L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kxq.2	nonsynonymous SNV	exon3	c.G61T	p.V21L	GPSRTRQPSLTDVLYCPEAIVSLVG	GPSRTRQPSLTDLLYCPEAIVSLVG	5.0	8.0	unscreened	-	4071_8:12043032-12043032 C>A_GPSRTRQPSLTDLLYCPEAIVSLVG
4:89415439-89415439 C>T	1.0	4071	COLON	-	-	-	-	HERC5	NM_016323,p.P801S|uc011cdm.3,p.P439S|ENST00000508159,p.P439S|ENST00000264350,p.P801S|uc003hrt.4,p.P801S	retained_intron, protein_coding, processed_transcript	uc011cdm.3	nonsynonymous SNV	exon12	c.C1315T	p.P439S	PLALFKKLLDQMPSLEDLKELSPDL	PLALFKKLLDQMSSLEDLKELSPDL	4.0	10.0	-	-	4071_4:89415439-89415439 C>T_PLALFKKLLDQMSSLEDLKELSPDL
8:105160881-105160882 AA>-	0.0	4071	COLON	-	-	-	-	RIMS2	ENST00000436393,p.K1065fs|ENST00000408894,p.K1054fs|uc003ylw.2,p.K1054fs|uc003yls.3,p.K1065fs	retained_intron, protein_coding, processed_transcript	uc003ylw.2	frameshift deletion	exon22	c.3160_3161del	p.K1054fs	SKMQSRQMGISGKNMTKSTSISGDM	SKMQSRQMGISGEHDKKHQHQWRHVLTGEE	1.0	1.0	unscreened	-	4071_8:105160881-105160882 AA>-_SKMQSRQMGISGEHDKKHQHQWRHVLTGEE
22:30782606-30782606 T>C	0.0	4071	COLON	-	-	-	-	RNF215	uc011akw.2,p.Q48R|ENST00000431544,p.Q48R|NM_001017981,p.Q143R|uc003ahp.3,p.Q143R|ENST00000382363,p.Q143R	retained_intron, protein_coding	uc011akw.2	nonsynonymous SNV	exon1	c.A143G	p.Q48R	SGPQAYPKALVQQMRRALFLGASAL	SGPQAYPKALVQRMRRALFLGASAL	4.0	4.0	unscreened	-	4071_22:30782606-30782606 T>C_SGPQAYPKALVQRMRRALFLGASAL
9:117713-117713 T>C	0.0	4071	COLON	0.54	rs2492216	ID=COSM4163271;OCCURENCE=2(thyroid)	-	FOXD4	ENST00000382500,p.D136G|uc003zfz.4,p.D136G|NM_207305,p.D136G	protein_coding	uc003zfz.4	nonsynonymous SNV	exon1	c.A407G	p.D136G	RLTLSGICAFISDRFPYYRRKFPAW	RLTLSGICAFISGRFPYYRRKFPAW	2.0	9.0	unscreened	-	4071_9:117713-117713 T>C_RLTLSGICAFISGRFPYYRRKFPAW
5:23522857-23522857 G>A	0.0	4071	COLON	-	-	-	-	PRDM9	uc003jgo.3,p.G249R|ENST00000296682,p.G249R|NM_020227,p.G249R	protein_coding	uc003jgo.3	nonsynonymous SNV	exon8	c.G745A	p.G249R	RSALSLPPGLRIGPSGIPQAGLGVW	RSALSLPPGLRIRPSGIPQAGLGVW	1.0	3.0	unscreened	-	4071_5:23522857-23522857 G>A_RSALSLPPGLRIRPSGIPQAGLGVW
19:53668084-53668084 G>T	0.0	4071	COLON	-	-	-	-	ZNF665	uc010eqm.1,p.H553Q|ENST00000600412,p.H488Q|ENST00000396424,p.H553Q|NM_024733,p.H553Q	protein_coding, processed_transcript	uc010eqm.1	nonsynonymous SNV	exon4	c.C1659A	p.H553Q	PYKCNDCGKVFRHNSYLAIHQRIHT	PYKCNDCGKVFRQNSYLAIHQRIHT	4.0	1.0	unscreened	-	4071_19:53668084-53668084 G>T_PYKCNDCGKVFRQNSYLAIHQRIHT
1:200377911-200377911 T>G	0.0	4071	COLON	-	-	-	-	ZNF281	ENST00000367352,p.E272A|uc001gvg.1,p.E272A|ENST00000367353,p.E308A|NM_001281293,p.E308A|uc001gvf.1,p.E308A|uc001gve.3,p.E308A|ENST00000294740,p.E308A|NM_012482,p.E308A|NM_001281294,p.E272A|uc021phb.1,p.E308A	protein_coding	uc021phb.1	nonsynonymous SNV	exon1	c.A923C	p.E308A	MGFIQKYLLQRHEKIHSREKPFGCD	MGFIQKYLLQRHAKIHSREKPFGCD	7.0	2.0	unscreened	-	4071_1:200377911-200377911 T>G_MGFIQKYLLQRHAKIHSREKPFGCD
17:43013475-43013475 C>G	0.0	4071	COLON	-	-	-	-	KIF18B	NM_001265577,p.A80P|ENST00000590129,p.A89P|uc002iht.4,p.A80P|ENST00000593135,p.A80P|uc010wjh.3,p.A80P|ENST00000438933,p.A80P|NM_001264573,p.A80P|ENST00000339151,p.A80P|ENST00000587309,p.A80P|uc031rbb.1,p.A80P	retained_intron, protein_coding	uc031rbb.1	nonsynonymous SNV	exon2	c.G238C	p.A80P	LTFVFDRVFGEAATQQDVFQHTTHS	LTFVFDRVFGEAPTQQDVFQHTTHS	5.0	6.0	unscreened	-	4071_17:43013475-43013475 C>G_LTFVFDRVFGEAPTQQDVFQHTTHS
1:39877004-39877004 G>T	1.0	4071	COLON	-	-	-	-	KIAA0754	uc009vvt.1,p.S356I|NM_015038,p.S356I|ENST00000530275,p.S220I	protein_coding	uc009vvt.1	nonsynonymous SNV	exon1	c.G1067T	p.S356I	REKTFLMADEKNSLADIFEEREQAN	REKTFLMADEKNILADIFEEREQAN	6.0	8.0	-	-	4071_1:39877004-39877004 G>T_REKTFLMADEKNILADIFEEREQAN
9:21304932-21304932 G>C	0.0	4071	COLON	-	-	-	-	IFNA5	NM_002169,p.F108L|ENST00000259555,p.F108L|uc011lnh.2,p.F108L	protein_coding	uc011lnh.2	nonsynonymous SNV	exon1	c.C324G	p.F108L	SSATWDETLLDKFYTELYQQLNDLE	SSATWDETLLDKLYTELYQQLNDLE	1.0	2.0	unscreened	-	4071_9:21304932-21304932 G>C_SSATWDETLLDKLYTELYQQLNDLE
2:131334386-131334386 G>A	0.0	4071	COLON	-	-	-	-	LOC646743,TISP43	uc002trn.4,p.A108T	protein_coding, nonsense_mediated_decay	uc002trn.4	nonsynonymous SNV	exon3	c.G322A	p.A108T	SSDYTIHEDMLCAGDLITGKAICRC	SSDYTIHEDMLCTGDLITGKAICRC	1.0	3.0	unscreened	-	4071_2:131334386-131334386 G>A_SSDYTIHEDMLCTGDLITGKAICRC
20:45170046-45170046 T>G	0.0	4071	COLON	-	-	-	-	OCSTAMP	uc010zxu.2,p.K523T|NM_080721,p.K523T|ENST00000279028,p.K523T	protein_coding	uc010zxu.2	nonsynonymous SNV	exon3	c.A1568C	p.K523T	LGPVPPPCVTLGKSLHLSEPRFLHL	LGPVPPPCVTLGTSLHLSEPRFLHL	1.0	3.0	unscreened	-	4071_20:45170046-45170046 T>G_LGPVPPPCVTLGTSLHLSEPRFLHL
5:92956835-92956835 C>A	0.0	4071	COLON	-	-	-	-	FAM172A	uc011cuj.2,p.A100S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cuj.2	nonsynonymous SNV	exon5	c.G298T	p.A100S	EAGKTIREWMREAPTVTS	EAGKTIREWMRESPTVTS	6.0	6.0	unscreened	-	4071_5:92956835-92956835 C>A_EAGKTIREWMRESPTVTS
19:7591717-7591717 A>G	0.0	4071	COLON	-	-	-	-	MCOLN1	uc002mgo.3,p.N159S|NM_020533,p.N159S|ENST00000601003,p.N159S|ENST00000264079,p.N159S	retained_intron, protein_coding	uc002mgo.3	nonsynonymous SNV	exon4	c.A476G	p.N159S	YAYVRGGGDPWTNGSGLALCQRYYH	YAYVRGGGDPWTSGSGLALCQRYYH	4.0	9.0	unscreened	-	4071_19:7591717-7591717 A>G_YAYVRGGGDPWTSGSGLALCQRYYH
X:36329042-36329042 C>A	0.0	4071	COLON	-	-	-	-	CXorf30	NM_001098843,p.T207N|uc011mkc.3,p.T207N|ENST00000378653,p.T492N|ENST00000378657,p.T207N	protein_coding	uc011mkc.3	nonsynonymous SNV	exon11	c.C620A	p.T207N	TERITTRIGLQSTIVIPFKNPTMED	TERITTRIGLQSNIVIPFKNPTMED	1.0	10.0	unscreened	-	4071_X:36329042-36329042 C>A_TERITTRIGLQSNIVIPFKNPTMED
11:64518896-64518896 C>T	0.0	4071	COLON	-	-	-	-	PYGM	ENST00000377432,p.V536I|NM_005609,p.V624I|uc001oay.4,p.V536I|ENST00000164139,p.V624I|uc001oax.4,p.V624I|NM_001164716,p.V536I	retained_intron, protein_coding, processed_transcript	uc001oay.4	nonsynonymous SNV	exon14	c.G1606A	p.V536I	PGYHMAKMIIRLVTAIGDVVNHDPA	PGYHMAKMIIRLITAIGDVVNHDPA	2.0	10.0	unscreened	-	4071_11:64518896-64518896 C>T_PGYHMAKMIIRLITAIGDVVNHDPA
2:131334386-131334386 G>A	0.0	4071	COLON	-	-	-	-	LOC646743,TISP43	uc010fmp.1,p.A108T	protein_coding, nonsense_mediated_decay	uc010fmp.1	nonsynonymous SNV	exon2	c.G322A	p.A108T	SSDYTIHEDMLCAGDLITGKAICRA	SSDYTIHEDMLCTGDLITGKAICRA	1.0	3.0	unscreened	-	4071_2:131334386-131334386 G>A_SSDYTIHEDMLCTGDLITGKAICRA
11:89896834-89896834 C>A	0.0	4071	COLON	-	-	-	-	NAALAD2	uc001pde.3,p.Q350K|ENST00000525171,p.Q350K	retained_intron, protein_coding, nonsense_mediated_decay	uc001pde.3	nonsynonymous SNV	exon8	c.C1048A	p.Q350K	KKVLIIFLVNREQICMCLRMIKNIF	KKVLIIFLVNREKICMCLRMIKNIF	1.0	7.0	unscreened	-	4071_11:89896834-89896834 C>A_KKVLIIFLVNREKICMCLRMIKNIF
2:131334386-131334386 G>A	0.0	4071	COLON	-	-	-	-	LOC646743,TISP43	ENST00000409982,p.A114T	protein_coding, nonsense_mediated_decay	ENST00000409982	nonsynonymous SNV	exon3	c.G340A	p.A114T	SSDYTIHEDMLCAGDLITGKAICRV	SSDYTIHEDMLCTGDLITGKAICRV	1.0	3.0	unscreened	-	4071_2:131334386-131334386 G>A_SSDYTIHEDMLCTGDLITGKAICRV
2:233322717-233322717 A>C	0.0	4071	COLON	-	-	-	-	ALPI	uc002vsu.4,p.E200A|NM_001631,p.E289A|ENST00000295463,p.E289A|uc002vst.4,p.E289A	protein_coding, nonsense_mediated_decay	uc002vsu.4	nonsynonymous SNV	exon7	c.A599C	p.E200A	LDQSVTHLMGLFEPGDTKYEIHRDP	LDQSVTHLMGLFAPGDTKYEIHRDP	2.0	8.0	unscreened	-	4071_2:233322717-233322717 A>C_LDQSVTHLMGLFAPGDTKYEIHRDP
5:140502499-140502499 G>T	0.0	4071	COLON	-	-	-	-	PCDHB4	NM_018938,p.D307Y|ENST00000194152,p.D307Y|uc003lip.1,p.D307Y	protein_coding	uc003lip.1	nonsynonymous SNV	exon1	c.G919T	p.D307Y	EVTGEILLKKKLDFEKIKSYHVEIE	EVTGEILLKKKLYFEKIKSYHVEIE	3.0	8.0	unscreened	-	4071_5:140502499-140502499 G>T_EVTGEILLKKKLYFEKIKSYHVEIE
15:65688436-65688436 C>T	0.0	4071	COLON	-	-	-	-	IGDCC4	ENST00000352385,p.V355M|uc002aou.1,p.V355M|NM_020962,p.V355M	retained_intron, protein_coding, processed_transcript	uc002aou.1	nonsynonymous SNV	exon7	c.G1063A	p.V355M	ALSRTRASTARFVCRASGEPRPALR	ALSRTRASTARFMCRASGEPRPALR	3.0	8.0	unscreened	-	4071_15:65688436-65688436 C>T_ALSRTRASTARFMCRASGEPRPALR
14:29261458-29261458 G>T	0.0	4071	COLON	-	-	-	-	LINC01551	ENST00000399387,p.K165N|uc001wqf.3,p.K165N	protein_coding, processed_transcript	uc001wqf.3	nonsynonymous SNV	exon3	c.G495T	p.K165N	SWSSSLPLAPQVKKK	SWSSSLPLAPQVNKK	1.0	10.0	unscreened	-	4071_14:29261458-29261458 G>T_SWSSSLPLAPQVNKK
4:156136148-156136148 G>T	0.0	4071	COLON	-	-	-	-	NPY2R	ENST00000506608,p.V353L|uc003ior.3,p.V353L|uc021xtm.1,p.V353L|NM_000910,p.V353L|ENST00000329476,p.V353L|uc003ioq.3,p.V353L	protein_coding	uc021xtm.1	nonsynonymous SNV	exon1	c.G1057T	p.V353L	RCEQRLDAIHSEVSVTFKAKKNLEV	RCEQRLDAIHSELSVTFKAKKNLEV	1.0	8.0	unscreened	-	4071_4:156136148-156136148 G>T_RCEQRLDAIHSELSVTFKAKKNLEV
11:62996857-62996857 G>A	0.0	4071	COLON	-	-	-	-	SLC22A25	uc001nwr.1,p.R90C|uc001nwt.1,p.R90C|NM_199352,p.R90C|ENST00000306494,p.R90C|ENST00000525295,p.R90C	protein_coding, nonsense_mediated_decay	uc001nwt.1	nonsynonymous SNV	exon1	c.C268T	p.R90C	PFDSNLRPEKCRRFVHPQWKLIHLN	PFDSNLRPEKCRCFVHPQWKLIHLN	1.0	5.0	unscreened	-	4071_11:62996857-62996857 G>A_PFDSNLRPEKCRCFVHPQWKLIHLN
7:114284790-114284790 T>G	0.0	4071	COLON	-	-	-	-	FOXP2	ENST00000393489,p.V255G|ENST00000360232,p.V347G|NM_148899,p.V347G|uc011kmv.2,p.V346G|uc011kmu.2,p.V364G|NM_001172767,p.V372G|uc003vha.3,p.V255G|uc003vgx.2,p.V347G|ENST00000408937,p.V372G|NM_001172766,p.V346G|ENST00000390668,p.V371G|uc003vhb.3,p.V347G|ENST00000350908,p.V347G|uc003vhc.3,p.V372G|ENST00000393494,p.V347G|uc010ljz.2,p.V255G|NM_148898,p.V372G|ENST00000393491,p.V255G|uc003vgz.3,p.V372G|ENST00000393498,p.V326G|uc003vhd.3,p.V347G|ENST00000403559,p.V364G|ENST00000378237,p.V347G|NM_014491,p.V347G|NM_148900,p.V364G|ENST00000393500,p.V272G	protein_coding, processed_transcript, nonsense_mediated_decay	uc011kmv.2	nonsynonymous SNV	exon8	c.T1037G	p.V346G	ETGASHTLYGHGVCKWPGCESICED	ETGASHTLYGHGGCKWPGCESICED	4.0	2.0	unscreened	-	4071_7:114284790-114284790 T>G_ETGASHTLYGHGGCKWPGCESICED
15:66813436-66813436 T>G	1.0	4071	COLON	-	-	-	-	ZWILCH	ENST00000535141,p.L100V|NM_001287823,p.L100V|NM_001287821,p.L100V|NM_001287822,p.L100V|uc002aqb.3,p.L214V|uc010bhv.3,p.L100V|uc002aqa.3,p.L100V|uc010bhu.1,p.L100V|ENST00000307897,p.L214V|ENST00000446801,p.L100V|NM_017975,p.L214V|ENST00000565627,p.L100V	retained_intron, protein_coding, processed_transcript	uc010bhv.3	nonsynonymous SNV	exon6	c.T298G	p.L100V	GFAQYELFKSSALDDTITASQTAIA	GFAQYELFKSSAVDDTITASQTAIA	5.0	7.0	-	-	4071_15:66813436-66813436 T>G_GFAQYELFKSSAVDDTITASQTAIA
15:52697507-52697507 C>A	0.0	4071	COLON	-	-	-	1	MYO5A	uc002abx.3,p.D344Y|ENST00000553916,p.D344Y|ENST00000399233,p.D344Y|ENST00000358212,p.D344Y|NM_001142495,p.D344Y|uc002aby.2,p.D344Y|NM_000259,p.D344Y|uc010uge.1,p.D213Y|ENST00000356338,p.D344Y|ENST00000399231,p.D344Y	retained_intron, protein_coding, nonsense_mediated_decay	uc010uge.1	nonsynonymous SNV	exon8	c.G637T	p.D213Y	ILHLGNVGFTSRDADSCTIPPKHEP	ILHLGNVGFTSRYADSCTIPPKHEP	6.0	7.0	unscreened	-	4071_15:52697507-52697507 C>A_ILHLGNVGFTSRYADSCTIPPKHEP
11:47199926-47199926 A>T	0.0	4071	COLON	-	-	-	-	PACSIN3	uc001ndw.3,p.F384I|NM_001184974,p.F384I|ENST00000528462,p.F384I|ENST00000298838,p.F384I|NM_001184975,p.F384I|uc001ndx.3,p.F384I|ENST00000539589,p.F384I|NM_016223,p.F384I|uc001ndy.3,p.F384I	protein_coding, nonsense_mediated_decay	uc001ndy.3	nonsynonymous SNV	exon10	c.T1150A	p.F384I	YDYAGQEADELSFRAGEELLKMSEE	YDYAGQEADELSIRAGEELLKMSEE	5.0	7.0	unscreened	-	4071_11:47199926-47199926 A>T_YDYAGQEADELSIRAGEELLKMSEE
6:152332916-152332916 T>G	0.0	4071	COLON	-	-	-	1	ESR1	uc011eex.2,p.L189V	protein_coding, processed_transcript	uc011eex.2	nonsynonymous SNV	exon3	c.T565G	p.L189V	MEHPGKLLFAPNLLLDSNKGMEHLY	MEHPGKLLFAPNVLLDSNKGMEHLY	4.0	2.0	unscreened	-	4071_6:152332916-152332916 T>G_MEHPGKLLFAPNVLLDSNKGMEHLY
X:127185099-127185099 A>G	0.0	4071	COLON	-	-	ID=COSM1582809;OCCURENCE=1(stomach)	-	ACTRT1	ENST00000371124,p.F363L|NM_138289,p.F363L|uc004eum.3,p.F363L	protein_coding	uc004eum.3	nonsynonymous SNV	exon1	c.T1087C	p.F363L	SSFKQMWVTSADFKEYGTSVVQRRC	SSFKQMWVTSADLKEYGTSVVQRRC	1.0	9.0	unscreened	-	4071_X:127185099-127185099 A>G_SSFKQMWVTSADLKEYGTSVVQRRC
6:152332916-152332916 T>G	0.0	4071	COLON	-	-	-	1	ESR1	uc010kio.3,p.L410V|NM_001291230,p.L410V|uc010kis.3,p.L123V|uc010kip.3,p.L407V|ENST00000206249,p.L408V|NM_001122741,p.L408V|ENST00000440973,p.L408V|uc011eey.2,p.L145V|NM_000125,p.L408V|NM_001291241,p.L407V|NM_001122742,p.L408V|uc003qoo.4,p.L408V|uc010kin.3,p.L408V|ENST00000338799,p.L408V|uc003qom.4,p.L408V|ENST00000544394,p.L235V|uc003qon.4,p.L408V|ENST00000443427,p.L408V|ENST00000456483,p.L296V|NM_001122740,p.L408V|ENST00000415488,p.L81V	protein_coding, processed_transcript	uc011eey.2	nonsynonymous SNV	exon2	c.T433G	p.L145V	MEHPGKLLFAPNLLLDRNQGKCVEG	MEHPGKLLFAPNVLLDRNQGKCVEG	4.0	2.0	unscreened	-	4071_6:152332916-152332916 T>G_MEHPGKLLFAPNVLLDRNQGKCVEG
10:73569682-73569682 C>T	0.0	4071	COLON	-	-	-	-	CDH23	ENST00000398788,p.T703M|ENST00000224721,p.T2948M|uc001jsg.4,p.T703M|NM_001171934,p.T703M|uc001jsi.4,p.T703M|NM_001171933,p.T703M|NM_022124,p.T2943M|uc001jsh.4,p.T703M	protein_coding, processed_transcript	uc001jsi.4	nonsynonymous SNV	exon13	c.C2108T	p.T703M	DIVARDLAGHNDTAIIGIYILRDDQ	DIVARDLAGHNDMAIIGIYILRDDQ	4.0	8.0	unscreened	-	4071_10:73569682-73569682 C>T_DIVARDLAGHNDMAIIGIYILRDDQ
11:68748292-68748292 C>T	0.0	4071	COLON	-	-	-	-	MRGPRD	ENST00000309106,p.R55Q|uc010rqf.2,p.R55Q|NM_198923,p.R55Q	protein_coding	uc010rqf.2	nonsynonymous SNV	exon1	c.G164A	p.R55Q	AGNSMVIWLLGFRMHRNPFCIYILN	AGNSMVIWLLGFQMHRNPFCIYILN	1.0	10.0	unscreened	-	4071_11:68748292-68748292 C>T_AGNSMVIWLLGFQMHRNPFCIYILN
5:145464059-145464059 T>G	0.0	4071	COLON	-	-	-	-	PLAC8L1	uc003lnv.3,p.K157T|NM_001029869,p.K157T|ENST00000311450,p.K157T	protein_coding, nonsense_mediated_decay	uc003lnv.3	nonsynonymous SNV	exon4	c.A470C	p.K157T	WAFSICQVARELKMRTSQVYEICAV	WAFSICQVARELTMRTSQVYEICAV	2.0	9.0	unscreened	-	4071_5:145464059-145464059 T>G_WAFSICQVARELTMRTSQVYEICAV
5:24488080-24488080 G>A	0.0	4071	COLON	-	-	ID=COSM1067112;OCCURENCE=1(endometrium)	2	CDH10	NM_006727,p.R687W|uc003jgr.2,p.R687W|ENST00000264463,p.R687W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jgr.2	nonsynonymous SNV	exon12	c.C2059T	p.R687W	LRNPAAIEEKKLRRDIIPETLFIPR	LRNPAAIEEKKLWRDIIPETLFIPR	1.0	10.0	unscreened	-	4071_5:24488080-24488080 G>A_LRNPAAIEEKKLWRDIIPETLFIPR
19:40521195-40521195 C>T	0.0	4071	COLON	-	-	-	-	ZNF546	NM_178544,p.T673M|uc002oms.2,p.T673M|ENST00000347077,p.T673M|ENST00000600094,p.T647M|uc002omt.2,p.T647M|NM_001297763,p.T647M	retained_intron, protein_coding, processed_transcript	uc002omt.2	nonsynonymous SNV	exon7	c.C1940T	p.T647M	GEKPYECTECGKTFSRHYHLTQHHR	GEKPYECTECGKMFSRHYHLTQHHR	4.0	7.0	unscreened	-	4071_19:40521195-40521195 C>T_GEKPYECTECGKMFSRHYHLTQHHR
4:144620586-144620586 C>T	0.0	4071	COLON	-	-	-	-	FREM3	NM_001168235,p.A415T|ENST00000329798,p.A415T|uc021xsj.1,p.A415T	protein_coding, processed_transcript	uc021xsj.1	nonsynonymous SNV	exon1	c.G1243A	p.A415T	QLELEVVDGDGAASDPFAFMVTVKS	QLELEVVDGDGATSDPFAFMVTVKS	1.0	10.0	unscreened	-	4071_4:144620586-144620586 C>T_QLELEVVDGDGATSDPFAFMVTVKS
3:77607212-77607212 G>C	0.0	4071	COLON	-	-	-	2	ROBO2	ENST00000602589,p.S470T|ENST00000473767,p.S450T|uc011bgk.2,p.S454T|uc003dpz.3,p.S454T|uc021xat.1,p.S466T|NM_001290040,p.S454T|ENST00000487694,p.S466T|ENST00000461745,p.S450T|NM_002942,p.S450T|NM_001290039,p.S454T|ENST00000332191,p.S450T|uc003dpy.4,p.S450T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xat.1	nonsynonymous SNV	exon9	c.G1397C	p.S466T	KCKATGDPLPVISWLKEGFTFPGRD	KCKATGDPLPVITWLKEGFTFPGRD	3.0	10.0	unscreened	-	4071_3:77607212-77607212 G>C_KCKATGDPLPVITWLKEGFTFPGRD
11:119044533-119044533 A>G	0.0	4071	COLON	-	-	-	-	NLRX1	uc010rzc.1,p.E14G|ENST00000409991,p.E192G|uc001pvu.3,p.E192G|ENST00000525863,p.E192G|NM_024618,p.E192G|uc001pvw.3,p.E192G|ENST00000409109,p.E192G|NM_001282358,p.E192G|uc001pvv.3,p.E192G|NM_001282144,p.E192G|uc001pvx.3,p.E192G|ENST00000409265,p.E192G|NM_001282143,p.E192G|ENST00000292199,p.E192G	retained_intron, protein_coding, processed_transcript	uc010rzc.1	nonsynonymous SNV	exon4	c.A41G	p.E14G	VLDWCYGRLPAFELLIPFSCEDLSS	VLDWCYGRLPAFGLLIPFSCEDLSS	5.0	4.0	unscreened	-	4071_11:119044533-119044533 A>G_VLDWCYGRLPAFGLLIPFSCEDLSS
7:1526409-1526409 C>G	1.0	4071	COLON	-	-	-	-	INTS1	uc003skn.2,p.R943T|NM_001080453,p.R943T|ENST00000389470,p.R1086T|uc003skp.1,p.R290T|ENST00000404767,p.R943T	retained_intron, protein_coding, processed_transcript	uc003skp.1	nonsynonymous SNV	exon8	c.G869C	p.R290T	GESKEQKAKKRQRQQKQRQLLGRLQ	GESKEQKAKKRQTQQKQRQLLGRLQ	9.0	1.0	-	-	4071_7:1526409-1526409 C>G_GESKEQKAKKRQTQQKQRQLLGRLQ
4:69535692-69535692 C>G	0.0	4071	COLON	-	-	-	-	UGT2B15	ENST00000338206,p.M215I|NM_001076,p.M215I|uc021xow.1,p.M215I	protein_coding	uc021xow.1	nonsynonymous SNV	exon1	c.G645C	p.M215I	SDQMIFMERIKNMIHMLYFDFWFQI	SDQMIFMERIKNIIHMLYFDFWFQI	1.0	6.0	unscreened	-	4071_4:69535692-69535692 C>G_SDQMIFMERIKNIIHMLYFDFWFQI
2:240985207-240985207 C>T	0.0	4071	COLON	-	-	-	-	OR6B3	ENST00000319423,p.V95I|uc010zoe.2,p.V95I|NM_173351,p.V95I	protein_coding	uc010zoe.2	nonsynonymous SNV	exon1	c.G283A	p.V95I	EGFLLQQKRISFVGCMTQLYFFSSL	EGFLLQQKRISFIGCMTQLYFFSSL	1.0	2.0	unscreened	-	4071_2:240985207-240985207 C>T_EGFLLQQKRISFIGCMTQLYFFSSL
11:55406147-55406147 T>G	0.0	4071	COLON	-	-	-	-	OR4P4	uc010rij.2,p.F105C|NM_001004124,p.F105C|ENST00000314612,p.F105C	protein_coding	uc010rij.2	nonsynonymous SNV	exon1	c.T314G	p.F105C	NNCMIQLFTTHFFGGIEIFILTGMA	NNCMIQLFTTHFCGGIEIFILTGMA	1.0	10.0	unscreened	-	4071_11:55406147-55406147 T>G_NNCMIQLFTTHFCGGIEIFILTGMA
11:76868430-76868430 T>A	0.0	4071	COLON	-	-	-	-	MYO7A	NM_001127179,p.L281M|ENST00000458637,p.L281M|ENST00000409619,p.L270M|uc010rsm.1,p.L270M|NM_001127180,p.L281M|ENST00000409893,p.L281M|uc001oyb.2,p.L281M|uc010rsl.2,p.L281M|uc001oyc.2,p.L281M|ENST00000409709,p.L281M|NM_000260,p.L281M	retained_intron, protein_coding, processed_transcript	uc010rsm.1	nonsynonymous SNV	exon9	c.T808A	p.L270M	KLGLGQASDYNYLAMGNCITCEGRV	KLGLGQASDYNYMAMGNCITCEGRV	3.0	1.0	unscreened	-	4071_11:76868430-76868430 T>A_KLGLGQASDYNYMAMGNCITCEGRV
16:46771975-46771975 C>T	0.0	4071	COLON	-	-	-	-	MYLK3	NM_182493,p.A217T|ENST00000394809,p.A217T|uc002eei.4,p.A217T	retained_intron, protein_coding, processed_transcript	uc002eei.4	nonsynonymous SNV	exon3	c.G649A	p.A217T	PPIRASGLGADPAQAVVSPGQGDGV	PPIRASGLGADPTQAVVSPGQGDGV	1.0	10.0	unscreened	-	4071_16:46771975-46771975 C>T_PPIRASGLGADPTQAVVSPGQGDGV
2:215884465-215884465 A>G	0.0	4071	COLON	-	-	-	-	ABCA12	uc002vev.3,p.L130S|ENST00000389661,p.L130S|NM_173076,p.L448S|ENST00000272895,p.L448S|NM_015657,p.L130S|uc002vew.3,p.L448S	protein_coding	uc002vew.3	nonsynonymous SNV	exon12	c.T1343C	p.L448S	LTELLCESETFSLIEKSCQLSDMSF	LTELLCESETFSSIEKSCQLSDMSF	1.0	1.0	unscreened	-	4071_2:215884465-215884465 A>G_LTELLCESETFSSIEKSCQLSDMSF
X:32380939-32380939 A>C	0.0	4071	COLON	-	-	-	-	DMD	uc004ddb.1,p.F1756C|NM_004006,p.F1764C|NM_004009,p.F1760C|uc004dcw.2,p.F420C|uc004dda.1,p.F1764C|NM_004010,p.F1641C|uc004dcz.2,p.F1641C|uc004dcx.2,p.F423C|uc004dcy.1,p.F1760C|ENST00000378677,p.F1760C|ENST00000357033,p.F1764C|NM_004012,p.F420C|NM_000109,p.F1756C|NM_004011,p.F423C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004ddb.1	nonsynonymous SNV	exon37	c.T5267G	p.F1756C	LVEPQISELNHRFAAISHRIKTGKA	LVEPQISELNHRCAAISHRIKTGKA	4.0	9.0	unscreened	-	4071_X:32380939-32380939 A>C_LVEPQISELNHRCAAISHRIKTGKA
9:33536914-33536914 T>G	0.0	4071	COLON	-	-	-	-	ANKRD18B	uc010mjw.2,p.L260R|ENST00000290943,p.L260R|NM_001244752,p.L260R	retained_intron, protein_coding, processed_transcript	uc010mjw.2	nonsynonymous SNV	exon6	c.T779G	p.L260R	IQQQILEHKNKMLKNHLRNDNQETA	IQQQILEHKNKMRKNHLRNDNQETA	1.0	1.0	unscreened	-	4071_9:33536914-33536914 T>G_IQQQILEHKNKMRKNHLRNDNQETA
10:31791338-31791338 G>A	0.0	4071	COLON	-	-	ID=COSM35732;OCCURENCE=1(central_nervous_system)	2	ZEB1	uc001ivu.4,p.E129K|ENST00000560721,p.E108K|ENST00000320985,p.E128K|ENST00000561212,p.E136K|uc009xlo.2,p.E111K|NM_001128128,p.E112K|ENST00000446923,p.E112K|ENST00000424869,p.E129K|uc010qeh.2,p.E61K|uc001ivv.4,p.E108K|uc001ivs.4,p.E128K|NM_030751,p.E128K|ENST00000542815,p.E61K|ENST00000361642,p.E129K|NM_001174095,p.E61K|ENST00000559476,p.E112K|NM_001174093,p.E108K|NM_001174096,p.E129K|uc009xlp.3,p.E112K|NM_001174094,p.E111K	retained_intron, protein_coding, processed_transcript	uc010qeh.2	nonsynonymous SNV	exon3	c.G181A	p.E61K	AENEQNHDPNVEEFLQQQDTAVIFP	AENEQNHDPNVEKFLQQQDTAVIFP	7.0	9.0	unscreened	-	4071_10:31791338-31791338 G>A_AENEQNHDPNVEKFLQQQDTAVIFP
11:20676326-20676326 G>A	0.0	4071	COLON	0.0023	-	ID=COSM1353185;OCCURENCE=1(large_intestine)	-	SLC6A5	uc009yic.3,p.R534H|ENST00000525748,p.R769H|NM_004211,p.R769H|uc001mqd.3,p.R769H	protein_coding, processed_transcript, nonsense_mediated_decay	uc009yic.3	nonsynonymous SNV	exon15	c.G1601A	p.R534H	DWGPFLAQHRGERYKNMIDPLGTSS	DWGPFLAQHRGEHYKNMIDPLGTSS	1.0	8.0	unscreened	-	4071_11:20676326-20676326 G>A_DWGPFLAQHRGEHYKNMIDPLGTSS
11:60183179-60183179 A>T	0.0	4071	COLON	-	-	-	-	MS4A14	uc001npj.3,p.E246D|NM_032597,p.E246D|uc001npi.3,p.E134D|ENST00000531787,p.E134D|ENST00000531783,p.E279D|NM_001261827,p.E262D|NM_001261828,p.E279D|ENST00000395005,p.E229D|uc031qbd.1,p.E279D|NM_001079692,p.E229D|uc001npk.3,p.E229D|uc031qbe.1,p.E262D|ENST00000300187,p.E246D	protein_coding, nonsense_mediated_decay	uc031qbe.1	nonsynonymous SNV	exon5	c.A786T	p.E262D	KQSILPSPKFSEEEIEPLPPTLEKK	KQSILPSPKFSEDEIEPLPPTLEKK	2.0	6.0	unscreened	-	4071_11:60183179-60183179 A>T_KQSILPSPKFSEDEIEPLPPTLEKK
14:22134017-22134017 T>G	0.0	4071	COLON	-	-	-	-	OR4E2	NM_001001912,p.S241A	protein_coding	NM_001001912	nonsynonymous SNV	exon1	c.T721G	p.S241A	SAEGRRKALSTCSAHFMVVALFFGP	SAEGRRKALSTCAAHFMVVALFFGP	1.0	7.0	unscreened	-	4071_14:22134017-22134017 T>G_SAEGRRKALSTCAAHFMVVALFFGP
14:22134017-22134017 T>G	0.0	4071	COLON	-	-	-	-	OR4E2	ENST00000408935,p.S241A|uc010tmd.2,p.S241A	protein_coding	uc010tmd.2	nonsynonymous SNV	exon1	c.T721G	p.S241A	SAEGRQKALSTCSAHFMVVALFFGP	SAEGRQKALSTCAAHFMVVALFFGP	1.0	7.0	unscreened	-	4071_14:22134017-22134017 T>G_SAEGRQKALSTCAAHFMVVALFFGP
9:140094973-140094973 A>G	0.0	4071	COLON	-	-	-	-	TPRN	NM_001128228,p.L64P|ENST00000409012,p.L64P|uc004clt.3,p.L64P|uc004clu.3,p.L64P	retained_intron, protein_coding, processed_transcript	uc004clu.3	nonsynonymous SNV	exon1	c.T191C	p.L64P	SLGPLRENPFMLLEAERRRGGGAAG	SLGPLRENPFMLPEAERRRGGGAAG	9.0	3.0	unscreened	-	4071_9:140094973-140094973 A>G_SLGPLRENPFMLPEAERRRGGGAAG
1:11562062-11562062 C>G	0.0	4071	COLON	-	-	-	-	PTCHD2	uc001asi.1,p.S338W|ENST00000389575,p.S338W|NM_020780,p.S338W|uc001ash.4,p.S338W|ENST00000294484,p.S338W	protein_coding, processed_transcript	uc001asi.1	nonsynonymous SNV	exon1	c.C1013G	p.S338W	PLGSYSYCSPPSSLMTYFFPTERGG	PLGSYSYCSPPSWLMTYFFPTERGG	1.0	3.0	unscreened	-	4071_1:11562062-11562062 C>G_PLGSYSYCSPPSWLMTYFFPTERGG
X:24608154-24608154 G>C	0.0	4071	COLON	-	-	-	-	PCYT1B	ENST00000379145,p.L140V|NM_001163264,p.L140V|uc004dbk.4,p.L158V|ENST00000379144,p.L158V|uc004dbj.3,p.L140V|NM_001163265,p.L158V|ENST00000356768,p.L158V|NM_004845,p.L158V|uc004dbi.3,p.L158V	protein_coding, processed_transcript, nonsense_mediated_decay	uc004dbk.4	nonsynonymous SNV	exon4	c.C472G	p.L158V	IRDAPWTLTPEFLEKHKIDFVAHDD	IRDAPWTLTPEFVEKHKIDFVAHDD	1.0	9.0	unscreened	-	4071_X:24608154-24608154 G>C_IRDAPWTLTPEFVEKHKIDFVAHDD
3:123005600-123005600 C>T	0.0	4071	COLON	-	-	-	-	ADCY5	uc003egg.2,p.D855N|ENST00000462833,p.D1197N|NM_001199642,p.D847N|uc003egh.2,p.D1197N|NM_183357,p.D1197N|ENST00000491190,p.D855N|ENST00000309879,p.D847N|uc021xdd.1,p.D847N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xdd.1	nonsynonymous SNV	exon20	c.G2539A	p.D847N	VAGVIGARKPQYDIWGNTVNVASRM	VAGVIGARKPQYNIWGNTVNVASRM	3.0	3.0	unscreened	-	4071_3:123005600-123005600 C>T_VAGVIGARKPQYNIWGNTVNVASRM
12:7651565-7651565 A>C	0.0	4071	COLON	-	-	-	-	CD163	uc009zfw.2,p.L226R|uc001qsz.3,p.L226R|ENST00000432237,p.L226R|NM_203416,p.L226R|ENST00000396620,p.L226R|ENST00000359156,p.L226R|uc001qta.3,p.L226R|NM_004244,p.L226R|ENST00000541972,p.L214R	retained_intron, protein_coding, processed_transcript	uc009zfw.2	nonsynonymous SNV	exon4	c.T677G	p.L226R	FGEGSGPIWFDDLICNGNESALWNC	FGEGSGPIWFDDRICNGNESALWNC	9.0	2.0	unscreened	-	4071_12:7651565-7651565 A>C_FGEGSGPIWFDDRICNGNESALWNC
13:23908161-23908161 T>G	0.0	4071	COLON	-	-	-	-	SACS	NM_001278055,p.K3138T|ENST00000382292,p.K3285T|ENST00000402364,p.K2535T|NM_014363,p.K3285T|uc001uon.3,p.K3285T|ENST00000382298,p.K3285T|uc001uoo.3,p.K3138T	protein_coding, processed_transcript	uc001uoo.3	nonsynonymous SNV	exon8	c.A9413C	p.K3138T	DTLKDWALLPGTKFTVSANQLVVPE	DTLKDWALLPGTTFTVSANQLVVPE	4.0	2.0	unscreened	-	4071_13:23908161-23908161 T>G_DTLKDWALLPGTTFTVSANQLVVPE
8:67716667-67716667 G>A	0.0	4071	COLON	-	-	-	-	C8orf44-SGK3,SGK3	ENST00000521198,p.D80N|uc003xwt.3,p.D80N|ENST00000521960,p.D13N|ENST00000522629,p.D80N|ENST00000522398,p.D80N|ENST00000521152,p.D13N|ENST00000520976,p.D80N|ENST00000345714,p.D80N|ENST00000396596,p.D80N|uc003xwu.3,p.D80N|uc003xwr.3,p.D80N|NM_170709,p.D80N|NM_013257,p.D80N|ENST00000519289,p.D80N|NM_001033578,p.D80N|uc003xwp.3,p.D80N|ENST00000518388,p.D80N|NM_001204173,p.D80N	protein_coding, processed_transcript	uc003xwu.3	nonsynonymous SNV	exon4	c.G238A	p.D80N	MALKIPAKRIFGDNFDPDFIKQRRA	MALKIPAKRIFGNNFDPDFIKQRRA	6.0	4.0	unscreened	-	4071_8:67716667-67716667 G>A_MALKIPAKRIFGNNFDPDFIKQRRA
7:121684519-121684519 T>G	0.0	4071	COLON	-	-	-	-	PTPRZ1	uc003vjz.3,p.L1127R|ENST00000393386,p.L1994R|NM_002851,p.L1994R|NM_001206838,p.L1134R|uc003vjy.3,p.L1994R|ENST00000449182,p.L1127R|NM_001206839,p.L1127R|uc011knt.2,p.L1134R	retained_intron, protein_coding, processed_transcript	uc011knt.2	nonsynonymous SNV	exon23	c.T3401G	p.L1134R	YVFIHDTLVEAILSKETEVLDSHIH	YVFIHDTLVEAIRSKETEVLDSHIH	2.0	2.0	unscreened	-	4071_7:121684519-121684519 T>G_YVFIHDTLVEAIRSKETEVLDSHIH
X:24608154-24608154 G>C	0.0	4071	COLON	-	-	-	-	PCYT1B	ENST00000496020,p.L132V	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000496020	nonsynonymous SNV	exon4	c.C394G	p.L132V	IRDAPWTLTPEFLEKHKGCSFQRRE	IRDAPWTLTPEFVEKHKGCSFQRRE	1.0	9.0	unscreened	-	4071_X:24608154-24608154 G>C_IRDAPWTLTPEFVEKHKGCSFQRRE
8:12043032-12043032 C>A	0.0	4071	COLON	-	rs199637314	-	-	FAM86B1	ENST00000533852,p.V249L|NM_001083537,p.V215L|uc010lse.3,p.V215L|ENST00000448228,p.V215L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lse.3	nonsynonymous SNV	exon6	c.G643T	p.V215L	SAFQPDVVIAADVLYCPEAIVSLVG	SAFQPDVVIAADLLYCPEAIVSLVG	5.0	8.0	unscreened	-	4071_8:12043032-12043032 C>A_SAFQPDVVIAADLLYCPEAIVSLVG
19:7591717-7591717 A>G	0.0	4071	COLON	-	-	-	-	MCOLN1	uc002mgp.3,p.M46V	retained_intron, protein_coding	uc002mgp.3	nonsynonymous SNV	exon4	c.A136G	p.M46V	MRMSVVGVTLGPMAQGLLSASGTTT	MRMSVVGVTLGPVAQGLLSASGTTT	4.0	9.0	unscreened	-	4071_19:7591717-7591717 A>G_MRMSVVGVTLGPVAQGLLSASGTTT
1:158449822-158449822 T>A	0.0	4071	COLON	-	-	-	-	OR10R2	uc010pik.2,p.L52H|NM_001004472,p.L52H|ENST00000368152,p.L52H	protein_coding	uc010pik.2	nonsynonymous SNV	exon1	c.T155A	p.L52H	LGEIQLALFVVFLFLYLVILSGNVT	LGEIQLALFVVFHFLYLVILSGNVT	1.0	5.0	unscreened	-	4071_1:158449822-158449822 T>A_LGEIQLALFVVFHFLYLVILSGNVT
3:164748540-164748540 G>C	0.0	4071	COLON	-	-	-	-	SI	ENST00000264382,p.T951S|NM_001041,p.T951S|uc003fei.3,p.T951S	retained_intron, protein_coding, nonsense_mediated_decay	uc003fei.3	nonsynonymous SNV	exon25	c.C2852G	p.T951S	ERFNCYPDADLATEQKCTQRGCVWR	ERFNCYPDADLASEQKCTQRGCVWR	1.0	10.0	unscreened	-	4071_3:164748540-164748540 G>C_ERFNCYPDADLASEQKCTQRGCVWR
13:37453684-37453684 T>G	0.0	4071	COLON	-	-	-	-	SMAD9	ENST00000350148,p.K48T|NM_001127217,p.K48T|ENST00000379826,p.K48T|uc001uvx.3,p.K48T|ENST00000399275,p.K48T|uc001uvw.3,p.K48T|NM_005905,p.K48T	protein_coding, processed_transcript	uc001uvx.3	nonsynonymous SNV	exon2	c.A143C	p.K48T	KAVDSLVKKLKKKKGAMDELERALS	KAVDSLVKKLKKTKGAMDELERALS	4.0	1.0	unscreened	-	4071_13:37453684-37453684 T>G_KAVDSLVKKLKKTKGAMDELERALS
6:4116221-4116221 C>T	0.0	4071	COLON	-	-	ID=COSM1079187,COSM1154670;OCCURENCE=1(endometrium)	-	ECI2	uc003mwc.3,p.E186K|ENST00000380125,p.E328K|ENST00000361538,p.E328K|NM_001166010,p.E328K|NM_006117,p.E328K|NM_206836,p.E358K|ENST00000413766,p.E191K|uc003mwf.3,p.E358K|ENST00000380118,p.E358K|uc003mwd.3,p.E328K|uc021yku.1,p.E328K|ENST00000465828,p.E328K|uc003mwe.3,p.E205K	retained_intron, protein_coding, nonsense_mediated_decay	uc021yku.1	nonsynonymous SNV	exon10	c.G982A	p.E328K	RISKEVIRKREREKLHAVNAEECNV	RISKEVIRKRERKKLHAVNAEECNV	6.0	5.0	unscreened	-	4071_6:4116221-4116221 C>T_RISKEVIRKRERKKLHAVNAEECNV
1:17085028-17085028 G>A	0.0	4071	COLON	-	rs60947741	-	-	MST1L	NM_001271733,p.R483C|uc001azp.5,p.R57C|uc010ock.3,p.R483C	retained_intron, protein_coding, nonsense_mediated_decay	uc010ock.3	nonsynonymous SNV	exon11	c.C1447T	p.R483C	KCGKRVDRLDQRRSKLRVAGGHPGN	KCGKRVDRLDQRCSKLRVAGGHPGN	3.0	1.0	unscreened	-	4071_1:17085028-17085028 G>A_KCGKRVDRLDQRCSKLRVAGGHPGN
13:111973271-111973271 C>T	0.0	4071	COLON	-	-	-	-	TEX29	ENST00000497241,p.R39W	protein_coding, nonsense_mediated_decay	ENST00000497241	nonsynonymous SNV	exon2	c.C115T	p.R39W	AMEYVLEVKNSPRHLLKQFTVCDVP	AMEYVLEVKNSPWHLLKQFTVCDVP	1.0	4.0	unscreened	-	4071_13:111973271-111973271 C>T_AMEYVLEVKNSPWHLLKQFTVCDVP
20:3102777-3102777 C>T	0.0	4071	COLON	-	-	-	-	UBOX5	uc002whx.4,p.V170M|ENST00000217173,p.V170M|NM_014948,p.V170M|NM_199415,p.V170M|uc002why.2,p.V170M|ENST00000348031,p.V170M|NM_001267584,p.V170M|uc002whw.4,p.V170M	protein_coding	uc002why.2	nonsynonymous SNV	exon3	c.G508A	p.V170M	ELWNKGALSLSHVAHLRICITHVTG	ELWNKGALSLSHMAHLRICITHVTG	5.0	4.0	unscreened	-	4071_20:3102777-3102777 C>T_ELWNKGALSLSHMAHLRICITHVTG
7:82508682-82508682 C>A	0.0	4071	COLON	-	-	-	-	PCLO	NM_033026,p.S4542I|uc003uhv.2,p.S4542I|NM_014510,p.S4542I|ENST00000423517,p.S4542I|uc003uhx.2,p.S4542I|ENST00000333891,p.S4542I	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon10	c.G13625T	p.S4542I	IGAYIAKILPGGSAEQTGKLMEGMQ	IGAYIAKILPGGIAEQTGKLMEGMQ	5.0	3.0	unscreened	-	4071_7:82508682-82508682 C>A_IGAYIAKILPGGIAEQTGKLMEGMQ
17:72527461-72527461 A>T	0.0	4071	COLON	-	-	-	-	CD300LB	uc002jkx.2,p.L47H|uc010wqz.1,p.L47H|ENST00000392621,p.L47H|ENST00000314401,p.L47H	protein_coding	uc010wqz.1	nonsynonymous SNV	exon1	c.T140A	p.L47H	GRAMWLPPALLLLSLSGCFSIQGPE	GRAMWLPPALLLHSLSGCFSIQGPE	2.0	5.0	unscreened	-	4071_17:72527461-72527461 A>T_GRAMWLPPALLLHSLSGCFSIQGPE
8:77764102-77764102 A>G	0.0	4071	COLON	-	-	-	-	ZFHX4	uc003yau.2,p.M1649V|ENST00000455469,p.M1604V|ENST00000518282,p.M1623V|NM_024721,p.M1649V|ENST00000521891,p.M1649V|uc003yaw.1,p.M1604V|ENST00000050961,p.M1604V	retained_intron, protein_coding, nonsense_mediated_decay	uc003yaw.1	nonsynonymous SNV	exon9	c.A4810G	p.M1604V	SIAANVNSPGQGMLDSMSLAAVNSK	SIAANVNSPGQGVLDSMSLAAVNSK	1.0	3.0	unscreened	-	4071_8:77764102-77764102 A>G_SIAANVNSPGQGVLDSMSLAAVNSK
2:39187700-39187700 G>A	0.0	4071	COLON	-	-	-	-	ARHGEF33	ENST00000409978,p.A752T|ENST00000398800,p.A752T|ENST00000433605,p.A19T|uc021vgd.1,p.A752T|ENST00000536934,p.A752T|NM_001145451,p.A752T	retained_intron, protein_coding, processed_transcript	uc021vgd.1	nonsynonymous SNV	exon14	c.G2254A	p.A752T	AERAAQAHGPAAAAVAARGASRTFF	AERAAQAHGPAATAVAARGASRTFF	1.0	6.0	unscreened	-	4071_2:39187700-39187700 G>A_AERAAQAHGPAATAVAARGASRTFF
13:28608438-28608438 C>G	0.0	4071	COLON	-	-	-	1	FLT3	ENST00000241453,p.K568N|uc010tdn.2,p.K568N|ENST00000380982,p.K568N|ENST00000537084,p.K568N|NM_004119,p.K568N|ENST00000380987,p.K568N|uc001urw.3,p.K568N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tdn.2	nonsynonymous SNV	exon13	c.G1704C	p.K568N	VVLTLLICHKYKKQFRYESQLQMVQ	VVLTLLICHKYKNQFRYESQLQMVQ	2.0	1.0	unscreened	-	4071_13:28608438-28608438 C>G_VVLTLLICHKYKNQFRYESQLQMVQ
12:31648786-31648786 C>A	0.0	4071	COLON	-	-	-	-	DENND5B	uc001rkj.3,p.Q87H|ENST00000306833,p.Q100H|ENST00000536562,p.Q100H|ENST00000546299,p.Q17H|NM_144973,p.Q65H|ENST00000389082,p.Q65H|ENST00000354285,p.Q87H|uc001rkh.1,p.Q100H|uc001rki.1,p.Q65H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rkj.3	nonsynonymous SNV	exon3	c.G261T	p.Q87H	RTFKSKVLAHYPQNIEWNPFDQDAV	RTFKSKVLAHYPHNIEWNPFDQDAV	4.0	5.0	unscreened	-	4071_12:31648786-31648786 C>A_RTFKSKVLAHYPHNIEWNPFDQDAV
7:103151374-103151374 C>A	0.0	4071	COLON	-	-	-	-	RELN	ENST00000343529,p.G2733V|NM_005045,p.G2733V|NM_173054,p.G2733V|uc010liz.3,p.G2733V|ENST00000428762,p.G2733V|uc022ajr.1,p.G2733V|ENST00000424685,p.G2733V|uc022ajq.1,p.G2733V	retained_intron, protein_coding, processed_transcript	uc022ajr.1	nonsynonymous SNV	exon51	c.G8198T	p.G2733V	RFCDSPDGVMLCGSHDGREVYAVTH	RFCDSPDGVMLCVSHDGREVYAVTH	2.0	2.0	unscreened	-	4071_7:103151374-103151374 C>A_RFCDSPDGVMLCVSHDGREVYAVTH
20:29993951-29993951 T>G	0.0	4071	COLON	-	-	-	-	DEFB121	ENST00000376314,p.K2T|NM_001011878,p.K2T|uc002wvv.2,p.K2T	protein_coding, processed_transcript	uc002wvv.2	nonsynonymous SNV	exon1	c.A5C	p.K2T	MKLLLLLLTVTLLL	MTLLLLLLTVTLLL	1.0	1.0	unscreened	-	4071_20:29993951-29993951 T>G_MTLLLLLLTVTLLL
3:126152034-126152034 A>C	0.0	4071	COLON	-	-	-	-	CCDC37	uc010hsg.1,p.K471T|uc003eiu.1,p.K470T|ENST00000505024,p.K471T|ENST00000393425,p.K471T|NM_182628,p.K470T|ENST00000352312,p.K470T	retained_intron, protein_coding, processed_transcript	uc010hsg.1	nonsynonymous SNV	exon13	c.A1412C	p.K471T	ELKARVFHFGEYKGDQQDKLLESLN	ELKARVFHFGEYTGDQQDKLLESLN	4.0	2.0	unscreened	-	4071_3:126152034-126152034 A>C_ELKARVFHFGEYTGDQQDKLLESLN
12:40078721-40078721 C>A	0.0	4071	COLON	-	-	-	-	C12orf40	ENST00000405531,p.L447I|NM_001031748,p.L447I|uc001rmc.3,p.L447I|ENST00000324616,p.L447I	protein_coding, processed_transcript	uc001rmc.3	nonsynonymous SNV	exon10	c.C1339A	p.L447I	EELHSKQSWDFGLDEILMEEGGIYS	EELHSKQSWDFGIDEILMEEGGIYS	1.0	3.0	unscreened	-	4071_12:40078721-40078721 C>A_EELHSKQSWDFGIDEILMEEGGIYS
7:3990659-3990659 A>T	0.0	4071	COLON	-	-	-	-	SDK1	ENST00000404826,p.S318C|NM_152744,p.S318C|ENST00000389531,p.S318C|uc003smx.3,p.S318C	retained_intron, protein_coding, processed_transcript	uc003smx.3	nonsynonymous SNV	exon6	c.A952T	p.S318C	AGSSETTLECIASARPVEDLSVTWK	AGSSETTLECIACARPVEDLSVTWK	4.0	3.0	unscreened	-	4071_7:3990659-3990659 A>T_AGSSETTLECIACARPVEDLSVTWK
17:40705273-40705273 ->G	0.0	4071	COLON	-	-	-	-	HSD17B1	uc002hzy.3,p.R103fs	retained_intron, protein_coding, nonsense_mediated_decay	uc002hzy.3	frameshift insertion	exon1	c.307dupC	p.R103fs	PSTSTRPSVTRSRAAATDFESLTSS	PSTSTRPSVTRSPGSGHGF	1.0	7.0	unscreened	-	4071_17:40705273-40705273 ->G_PSTSTRPSVTRSPGSGHGF
6:84290198-84290198 A>T	0.0	4071	COLON	-	-	-	-	SNAP91	ENST00000369694,p.L757H|ENST00000437520,p.L450H|NM_001256718,p.L633H|NM_001242794,p.L450H|uc021zcf.1,p.L757H|ENST00000521931,p.L570H|NM_001256717,p.L666H|ENST00000521485,p.L752H|ENST00000428679,p.L757H|uc003pkd.3,p.L450H|ENST00000439399,p.L757H|ENST00000195649,p.L752H|ENST00000521743,p.L757H|NM_001242793,p.L727H|ENST00000520213,p.L450H|NM_001242792,p.L757H|uc003pkb.3,p.L666H|uc003pkc.3,p.L727H|ENST00000520302,p.L727H|NM_014841,p.L757H|ENST00000523448,p.L98H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zcf.1	nonsynonymous SNV	exon23	c.T2270A	p.L757H	PAMAASKALGSDLDSSLASLVGNLG	PAMAASKALGSDHDSSLASLVGNLG	1.0	1.0	unscreened	-	4071_6:84290198-84290198 A>T_PAMAASKALGSDHDSSLASLVGNLG
4:126411845-126411845 A>G	0.0	4071	COLON	-	-	-	1	FAT4	uc003ifi.1,p.D2100G|ENST00000394329,p.D4623G|NM_001291285,p.D4624G|ENST00000335110,p.D2864G|NM_024582,p.D4623G|uc011cgp.2,p.D2864G|NM_001291303,p.D4625G|uc003ifj.4,p.D4623G	retained_intron, protein_coding	uc011cgp.2	nonsynonymous SNV	exon15	c.A8591G	p.D2864G	ASPEQEIEHYDIDNASSIAPSDADI	ASPEQEIEHYDIGNASSIAPSDADI	4.0	8.0	unscreened	-	4071_4:126411845-126411845 A>G_ASPEQEIEHYDIGNASSIAPSDADI
X:13057963-13057963 T>A	0.0	4071	COLON	-	-	-	-	FAM9C	uc004cvh.2,p.K134N|uc004cvg.3,p.K134N|ENST00000333995,p.K134N|ENST00000380625,p.K134N|NM_174901,p.K134N	retained_intron, protein_coding	uc004cvh.2	nonsynonymous SNV	exon6	c.A402T	p.K134N	PNVLEEFITDEQKDEEGDGEKEEQI	PNVLEEFITDEQNDEEGDGEKEEQI	1.0	9.0	unscreened	-	4071_X:13057963-13057963 T>A_PNVLEEFITDEQNDEEGDGEKEEQI
4:62813831-62813831 A>C	0.0	4071	COLON	-	-	-	-	LPHN3	ENST00000508946,p.N813T|ENST00000545650,p.N813T|ENST00000506746,p.N881T|ENST00000507164,p.N881T|ENST00000514591,p.N813T|ENST00000514157,p.N813T|NM_015236,p.N813T|ENST00000506720,p.N881T|uc003hcq.4,p.N813T|ENST00000506700,p.N813T|uc003hct.3,p.N206T|ENST00000509896,p.N881T|uc010ihh.3,p.N813T|ENST00000507625,p.N881T|ENST00000504896,p.N813T|ENST00000508693,p.N881T|ENST00000514996,p.N813T|ENST00000511324,p.N881T|ENST00000512091,p.N813T	retained_intron, protein_coding, processed_transcript	uc010ihh.3	nonsynonymous SNV	exon14	c.A2438C	p.N813T	VFTVKHIKQSEENFNPNCSFWSYSK	VFTVKHIKQSEETFNPNCSFWSYSK	3.0	3.0	unscreened	-	4071_4:62813831-62813831 A>C_VFTVKHIKQSEETFNPNCSFWSYSK
8:30705972-30705972 C>A	0.0	4071	COLON	-	-	-	-	TEX15	NM_031271,p.A188S|ENST00000256246,p.A188S|uc003xil.3,p.A188S	protein_coding, processed_transcript	uc003xil.3	nonsynonymous SNV	exon1	c.G562T	p.A188S	EKAQRAQQESGNAYTKEYSSHIFQD	EKAQRAQQESGNSYTKEYSSHIFQD	1.0	9.0	unscreened	-	4071_8:30705972-30705972 C>A_EKAQRAQQESGNSYTKEYSSHIFQD
4:156631796-156631796 A>C	0.0	4071	COLON	-	-	-	-	GUCY1A3	ENST00000511108,p.K160T|NM_001130687,p.K160T|NM_001256449,p.K160T|NM_001130683,p.K160T|NM_000856,p.K160T|ENST00000511507,p.K160T|ENST00000506455,p.K160T|uc003iox.3,p.K160T|ENST00000296518,p.K160T|uc010iqd.3,p.K159T|uc003iov.3,p.K160T|ENST00000455639,p.K160T|NM_001130682,p.K160T|uc003iow.3,p.K160T|ENST00000513574,p.K160T|uc003ipb.3,p.K160T|uc010iqc.3,p.K160T|NM_001130684,p.K160T|uc003ioy.3,p.K160T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010iqd.3	nonsynonymous SNV	exon7	c.A476C	p.K159T	DENILGVVGGTLKDFLNSFSTLLKQ	DENILGVVGGTLTDFLNSFSTLLKQ	7.0	5.0	unscreened	-	4071_4:156631796-156631796 A>C_DENILGVVGGTLTDFLNSFSTLLKQ
20:18371085-18371085 G>T	0.0	4071	COLON	-	-	-	-	DZANK1	uc002wqs.4,p.L496M|uc002wqq.4,p.L610M|ENST00000262547,p.L610M|ENST00000357236,p.L496M|uc010zrz.2,p.L148M|ENST00000377630,p.L443M|ENST00000329494,p.L588M|NM_001099407,p.L610M|uc010zsa.2,p.L629M|uc002wqp.4,p.L320M	protein_coding, processed_transcript	uc010zsa.2	nonsynonymous SNV	exon18	c.C1885A	p.L629M	KKEQLIPENRLLLKEVGPTGEGRVS	KKEQLIPENRLLMKEVGPTGEGRVS	2.0	4.0	unscreened	-	4071_20:18371085-18371085 G>T_KKEQLIPENRLLMKEVGPTGEGRVS
19:52887280-52887280 T>G	0.0	4071	COLON	-	-	-	-	ZNF880	ENST00000422689,p.I149M|uc002pzc.3,p.I149M|NM_001145434,p.I149M|uc021uyu.1,p.I149M	protein_coding, processed_transcript	uc021uyu.1	nonsynonymous SNV	exon4	c.T447G	p.I149M	PINNSLVSPLQKIYSSVKSHILNKY	PINNSLVSPLQKMYSSVKSHILNKY	5.0	6.0	unscreened	-	4071_19:52887280-52887280 T>G_PINNSLVSPLQKMYSSVKSHILNKY
15:54306692-54306692 C>A	0.0	4071	COLON	-	-	-	-	UNC13C	ENST00000545554,p.A531E|uc021sms.1,p.A531E|ENST00000537900,p.A531E|ENST00000260323,p.A531E|uc021smr.1,p.A531E|NM_001080534,p.A531E	retained_intron, protein_coding	uc021sms.1	nonsynonymous SNV	exon1	c.C1592A	p.A531E	ILEKQTTTHYADATPLWHSQSDFFT	ILEKQTTTHYADETPLWHSQSDFFT	1.0	8.0	unscreened	-	4071_15:54306692-54306692 C>A_ILEKQTTTHYADETPLWHSQSDFFT
1:152186490-152186490 C>T	0.0	4071	COLON	-	rs60129677	-	-	HRNR	uc001ezt.2,p.G2539S|ENST00000368801,p.G2539S|NM_001009931,p.G2539S	protein_coding	uc001ezt.2	nonsynonymous SNV	exon3	c.G7615A	p.G2539S	RQGSGSGQSPGHGQRGSGSRQSPSY	RQGSGSGQSPGHSQRGSGSRQSPSY	1.0	1.0	unscreened	-	4071_1:152186490-152186490 C>T_RQGSGSGQSPGHSQRGSGSRQSPSY
6:150240424-150240424 T>G	0.0	4071	COLON	-	-	-	-	RAET1G	ENST00000479265,p.Q129P|uc010kii.1,p.Q129P|ENST00000367360,p.Q129P|NM_001001788,p.Q129P|ENST00000367361,p.Q129P	protein_coding, nonsense_mediated_decay	uc010kii.1	nonsynonymous SNV	exon3	c.A386C	p.Q129P	EPLTLQARMSCEQKAEGHGSGSWQL	EPLTLQARMSCEPKAEGHGSGSWQL	1.0	3.0	unscreened	-	4071_6:150240424-150240424 T>G_EPLTLQARMSCEPKAEGHGSGSWQL
1:10042548-10042548 T>A	1.0	4071	COLON	-	-	-	-	NMNAT1	ENST00000377205,p.I210N|uc001aqp.3,p.I210N|NM_022787,p.I210N|NM_001297778,p.I210N|ENST00000462686,p.I210N	protein_coding, processed_transcript, nonsense_mediated_decay	uc001aqp.3	nonsynonymous SNV	exon5	c.T629A	p.I210N	YESDVLWKHRSNIHVVNEWIANDIS	YESDVLWKHRSNNHVVNEWIANDIS	6.0	7.0	unscreened	-	4071_1:10042548-10042548 T>A_YESDVLWKHRSNNHVVNEWIANDIS
7:21641123-21641123 G>T	0.0	4071	COLON	-	-	-	-	DNAH11	ENST00000409508,p.V1179L|NM_001277115,p.V1179L|ENST00000328843,p.V1179L|uc031swp.1,p.V1179L	retained_intron, protein_coding, processed_transcript	uc031swp.1	nonsynonymous SNV	exon18	c.G3535T	p.V1179L	DGLVDIMVHLLAVRSRQRATDELFE	DGLVDIMVHLLALRSRQRATDELFE	4.0	2.0	unscreened	-	4071_7:21641123-21641123 G>T_DGLVDIMVHLLALRSRQRATDELFE
2:202505647-202505647 G>A	0.0	4071	COLON	-	-	-	-	TMEM237	uc021vvg.2,p.R15C|ENST00000444047,p.R15C|ENST00000432684,p.R15C|ENST00000409883,p.R15C|NM_001044385,p.R15C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vvg.2	nonsynonymous SNV	exon2	c.C43T	p.R15C	TDSGARLEEGHLRPPRALPPVPSQD	TDSGARLEEGHLCPPRALPPVPSQD	4.0	7.0	unscreened	-	4071_2:202505647-202505647 G>A_TDSGARLEEGHLCPPRALPPVPSQD
6:39162419-39162419 C>-	1.0	4071	COLON	-	-	-	-	KCNK5	NM_003740,p.G139fs|ENST00000359534,p.G139fs|uc003oon.3,p.G139fs	protein_coding	uc003oon.3	frameshift deletion	exon3	c.416delG	p.G139fs	LTWISALGKFFGGRAKRLGQFLTKR	LTWISALGKFFGDVPRD	8.0	4.0	unscreened	-	4071_6:39162419-39162419 C>-_LTWISALGKFFGDVPRD
4:121737715-121737715 T>C	0.0	4071	COLON	-	-	-	-	PRDM5	NM_001300823,p.Q222R|uc010ine.3,p.Q222R|ENST00000515109,p.Q222R|NM_001300824,p.Q222R|uc003ido.3,p.Q222R|ENST00000428209,p.Q222R|uc010inf.3,p.Q222R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010inf.3	nonsynonymous SNV	exon6	c.A665G	p.Q222R	VKQALQRHFEQHQETCRGDARFVCK	VKQALQRHFEQHRETCRGDARFVCK	2.0	8.0	unscreened	-	4071_4:121737715-121737715 T>C_VKQALQRHFEQHRETCRGDARFVCK
3:35729337-35729337 A>T	0.0	4071	COLON	-	-	-	-	ARPP21	uc003cga.3,p.K123I|uc011axy.2,p.K123I|ENST00000337271,p.K123I|ENST00000187397,p.K123I|NM_001267617,p.K123I|NM_001267619,p.K123I|uc003cgb.3,p.K123I|NM_016300,p.K123I|ENST00000458225,p.K123I|ENST00000417925,p.K123I|ENST00000444190,p.K123I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011axy.2	nonsynonymous SNV	exon5	c.A368T	p.K123I	SEREKEKDKNKDKTSEKPKIRMLSK	SEREKEKDKNKDITSEKPKIRMLSK	1.0	9.0	unscreened	-	4071_3:35729337-35729337 A>T_SEREKEKDKNKDITSEKPKIRMLSK
4:121737715-121737715 T>C	0.0	4071	COLON	-	-	-	-	PRDM5	ENST00000264808,p.Q253R|uc003idn.3,p.Q253R|NM_018699,p.Q253R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003idn.3	nonsynonymous SNV	exon7	c.A758G	p.Q253R	SSFSSASSFEQHQETCRGDARFVCK	SSFSSASSFEQHRETCRGDARFVCK	2.0	8.0	unscreened	-	4071_4:121737715-121737715 T>C_SSFSSASSFEQHRETCRGDARFVCK
2:170493210-170493210 A>T	1.0	4071	COLON	-	-	-	-	PPIG	uc002ufd.3,p.E478V|uc010fpx.3,p.E466V|ENST00000448752,p.E481V|ENST00000409714,p.E466V|uc002ufb.3,p.E481V|ENST00000433207,p.E474V|ENST00000260970,p.E481V|uc010fpy.3,p.E474V|NM_004792,p.E481V|uc002uez.3,p.E481V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fpy.3	nonsynonymous SNV	exon11	c.A1421T	p.E474V	KSKERDSKHNRNEEKRMRSRSKGRD	KSKERDSKHNRNVEKRMRSRSKGRD	9.0	4.0	-	-	4071_2:170493210-170493210 A>T_KSKERDSKHNRNVEKRMRSRSKGRD
17:5086362-5086362 G>A	0.0	4071	COLON	-	-	-	-	ZNF594	NM_032530,p.T397I|uc021tol.1,p.T397I|uc010cla.1,p.T397I|ENST00000399604,p.T397I|ENST00000575779,p.T397I	protein_coding	uc021tol.1	nonsynonymous SNV	exon1	c.C1190T	p.T397I	FQGTSDLIRHQVTHTGEKPYECKEC	FQGTSDLIRHQVIHTGEKPYECKEC	5.0	8.0	unscreened	-	4071_17:5086362-5086362 G>A_FQGTSDLIRHQVIHTGEKPYECKEC
19:38969161-38969161 T>C	0.0	4071	COLON	-	-	-	-	RYR1	ENST00000360985,p.V1514A|ENST00000359596,p.V1514A|uc002oiu.3,p.V1514A|uc002oit.3,p.V1514A|NM_001042723,p.V1514A|ENST00000355481,p.V1514A|NM_000540,p.V1514A	retained_intron, protein_coding, nonsense_mediated_decay	uc002oiu.3	nonsynonymous SNV	exon31	c.T4541C	p.V1514A	PGQQGRISHTDLVIGCLVDLATGLM	PGQQGRISHTDLAIGCLVDLATGLM	1.0	7.0	unscreened	-	4071_19:38969161-38969161 T>C_PGQQGRISHTDLAIGCLVDLATGLM
8:113529303-113529303 T>A	0.0	4071	COLON	-	-	-	2	CSMD3	uc011lhx.2,p.E1468D|ENST00000297405,p.E1572D|NM_198123,p.E1572D|NM_052900,p.E1468D|uc003ynt.3,p.E1532D|NM_198124,p.E1532D|uc003yns.3,p.E844D|uc003ynu.3,p.E1572D|ENST00000352409,p.E1572D|ENST00000455883,p.E1468D|ENST00000343508,p.E1532D|ENST00000339701,p.E912D	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon27	c.A4404T	p.E1468D	LQGEERITCIQVENRYFWQPSPPVC	LQGEERITCIQVDNRYFWQPSPPVC	1.0	2.0	unscreened	-	4071_8:113529303-113529303 T>A_LQGEERITCIQVDNRYFWQPSPPVC
9:111617550-111617550 G>A	0.0	4071	COLON	-	-	-	-	ACTL7B	ENST00000374667,p.R221C|uc004bdi.3,p.R221C|NM_006686,p.R221C	protein_coding	uc004bdi.3	nonsynonymous SNV	exon1	c.C661T	p.R221C	ISEGDVLPGLTSRADYAGGDLTNYL	ISEGDVLPGLTSCADYAGGDLTNYL	1.0	2.0	unscreened	-	4071_9:111617550-111617550 G>A_ISEGDVLPGLTSCADYAGGDLTNYL
9:138557117-138557117 T>C	0.0	4071	COLON	-	-	-	-	LCN9	ENST00000277526,p.S112P|uc004cgk.2,p.S112P|uc031tfr.1,p.S112P|NM_001001676,p.S112P	retained_intron, protein_coding, processed_transcript	uc031tfr.1	nonsynonymous SNV	exon4	c.T334C	p.S112P	SINYEGQNTVAVSETDYRLFITFHL	SINYEGQNTVAVPETDYRLFITFHL	1.0	4.0	unscreened	-	4071_9:138557117-138557117 T>C_SINYEGQNTVAVPETDYRLFITFHL
19:8619403-8619403 C>T	0.0	4071	COLON	-	-	ID=COSM1397793;OCCURENCE=1(large_intestine)	-	MYO1F	ENST00000596675,p.R91Q|ENST00000338257,p.R95Q|uc010xkf.2,p.R95Q|NM_012335,p.R95Q|uc002mkg.3,p.R95Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xkf.2	nonsynonymous SNV	exon4	c.G284A	p.R95Q	PPHIYALTDNMYRNMLIDCENQCVI	PPHIYALTDNMYQNMLIDCENQCVI	7.0	3.0	unscreened	-	4071_19:8619403-8619403 C>T_PPHIYALTDNMYQNMLIDCENQCVI
8:105479085-105479085 C>T	0.0	4071	COLON	-	-	-	-	DPYS	ENST00000521573,p.V22M|uc003yly.4,p.V22M|NM_001385,p.V22M|ENST00000351513,p.V22M	retained_intron, protein_coding, processed_transcript	uc003yly.4	nonsynonymous SNV	exon1	c.G64A	p.V22M	RGGRVVNDDFSEVADVLVEDGVVRA	RGGRVVNDDFSEMADVLVEDGVVRA	1.0	6.0	unscreened	-	4071_8:105479085-105479085 C>T_RGGRVVNDDFSEMADVLVEDGVVRA
16:58031505-58031505 C>T	0.0	4071	COLON	-	-	-	-	ZNF319	ENST00000299237,p.R222Q|NM_020807,p.R222Q|uc002emx.1,p.R222Q|uc021tjd.1,p.R222Q	protein_coding	uc021tjd.1	nonsynonymous SNV	exon1	c.G665A	p.R222Q	PFKHLSELSRHERIHTGEKPYKCTL	PFKHLSELSRHEQIHTGEKPYKCTL	5.0	6.0	unscreened	-	4071_16:58031505-58031505 C>T_PFKHLSELSRHEQIHTGEKPYKCTL
10:55591291-55591291 A>C	0.0	4071	COLON	-	-	-	-	PCDH15	uc010qhx.1,p.F1258C|NM_001142765,p.F1258C|ENST00000414778,p.F1334C|uc010qib.1,p.F1307C|ENST00000320301,p.F1329C|uc010qhy.1,p.F1334C|uc010qht.2,p.F1336C|NM_001142767,p.F1292C|uc021pqx.1,p.F1329C|uc010qhw.1,p.F1292C|ENST00000395433,p.F1307C|uc001jju.1,p.F1329C|uc010qhv.1,p.F1329C|NM_001142764,p.F1329C|ENST00000409834,p.F940C|uc021pqw.1,p.F1341C|uc010qhq.2,p.F1334C|ENST00000373965,p.F1336C|ENST00000395445,p.F1336C|uc010qhz.1,p.F1329C|uc010qhr.2,p.F1329C|ENST00000395430,p.F1329C|NM_001142773,p.F1307C|NM_033056,p.F1329C|ENST00000437009,p.F1258C|NM_001142763,p.F1334C|ENST00000395438,p.F1329C|ENST00000395432,p.F1292C|uc021pqz.1,p.F1307C|uc010qia.1,p.F1307C|ENST00000361849,p.F1329C|NM_001142766,p.F1329C|uc021pqy.1,p.F1329C|uc021pqv.1,p.F1329C|NM_001142768,p.F1307C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqz.1	nonsynonymous SNV	exon28	c.T3920G	p.F1307C	TNRAIDRNELFKFLDGKLLDINKDF	TNRAIDRNELFKCLDGKLLDINKDF	3.0	6.0	unscreened	-	4071_10:55591291-55591291 A>C_TNRAIDRNELFKCLDGKLLDINKDF
6:16327903-16327903 ->TGCTGCTGCTGA	0.0	4071	COLON	-	-	-	-	ATXN1	NM_000332,p.Q213delinsHQQQQ|uc010jpi.3,p.Q213delinsHQQQQ|uc003nbt.3,p.Q213delinsHQQQQ|NM_001128164,p.Q213delinsHQQQQ|ENST00000436367,p.Q213delinsHQQQQ|ENST00000244769,p.Q213delinsHQQQQ	protein_coding, processed_transcript	uc010jpi.3	nonframeshift insertion	exon7	c.638_639insTCAGCAGCAGCA	p.Q213delinsHQQQQ	QQQQQQQQHQHQQQQQQQQQQQQQQ	QQQQQQQQHQHQHQQQQQQQQQQQQ	8.0	2.0	unscreened	-	4071_6:16327903-16327903 ->TGCTGCTGCTGA_QQQQQQQQHQHQHQQQQQQQQQQQQ
17:76446831-76446831 A>G	0.0	4071	COLON	-	-	-	-	DNAH17	NM_173628,p.L3611P|ENST00000389840,p.L3597P|ENST00000585328,p.L3606P|uc010dhp.2,p.L3611P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dhp.2	nonsynonymous SNV	exon67	c.T10832C	p.L3611P	LLARLSAASGNFLGDTALVENLETT	LLARLSAASGNFPGDTALVENLETT	1.0	7.0	unscreened	-	4071_17:76446831-76446831 A>G_LLARLSAASGNFPGDTALVENLETT
17:40705273-40705273 ->G	0.0	4071	COLON	-	-	-	-	HSD17B1	ENST00000590299,p.R77fs|ENST00000585807,p.R77fs|NM_000413,p.R77fs|ENST00000225929,p.R77fs|uc010cyi.3,p.R108fs|uc002hzw.3,p.R77fs	retained_intron, protein_coding, nonsense_mediated_decay	uc010cyi.3	frameshift insertion	exon1	c.323dupG	p.R108fs	LDVRDSKSVAAARERVTEGRVDVLV	LDVRDSKSVAAARGTRD	1.0	7.0	unscreened	-	4071_17:40705273-40705273 ->G_LDVRDSKSVAAARGTRD
10:8115731-8115731 A>C	0.0	4071	COLON	-	-	-	1	GATA3	uc001ijz.3,p.E360D|ENST00000379328,p.E360D|NM_001002295,p.E360D|uc001ika.3,p.E359D|ENST00000346208,p.E359D|NM_002051,p.E359D	protein_coding, processed_transcript	uc001ika.3	nonsynonymous SNV	exon6	c.A1077C	p.E359D	LHNINRPLTMKKEGIQTRNRKMSSK	LHNINRPLTMKKDGIQTRNRKMSSK	4.0	7.0	unscreened	-	4071_10:8115731-8115731 A>C_LHNINRPLTMKKDGIQTRNRKMSSK
3:130293340-130293340 G>A	0.0	4071	COLON	-	-	-	-	COL6A6	ENST00000453409,p.R1173H|NM_001102608,p.R1173H|uc010htl.3,p.R1173H|ENST00000358511,p.R1173H	protein_coding, nonsense_mediated_decay	uc010htl.3	nonsynonymous SNV	exon7	c.G3518A	p.R1173H	FDELKKVNKRIVRNICTTAGESNCF	FDELKKVNKRIVHNICTTAGESNCF	3.0	5.0	unscreened	-	4071_3:130293340-130293340 G>A_FDELKKVNKRIVHNICTTAGESNCF
4:140432821-140432821 T>G	1.0	4071	COLON	-	-	-	-	SETD7	NM_030648,p.K366T|ENST00000274031,p.K366T|uc003ihw.3,p.K366T	retained_intron, protein_coding	uc003ihw.3	nonsynonymous SNV	exon8	c.A1097C	p.K366T	QVELKAFQATQQK	QVELKAFQATQQT	8.0	4.0	-	-	4071_4:140432821-140432821 T>G_QVELKAFQATQQT
11:49075336-49075336 A>T	0.0	4071	COLON	-	-	-	-	TRIM64C	ENST00000530230,p.L425H|NM_001206631,p.L428H|uc021qiy.1,p.L428H	protein_coding	uc021qiy.1	nonsynonymous SNV	exon6	c.T1283A	p.L428H	GSVSFFDVSKGSLIYGFPPSSFSSP	GSVSFFDVSKGSHIYGFPPSSFSSP	1.0	6.0	unscreened	-	4071_11:49075336-49075336 A>T_GSVSFFDVSKGSHIYGFPPSSFSSP
2:74742953-74742953 C>T	0.0	4071	COLON	-	-	-	-	TLX2	uc002sma.2,p.R69C	retained_intron, protein_coding	uc002sma.2	nonsynonymous SNV	exon3	c.C205T	p.R69C	EGGAGQGLAHDRRTGQNVVPEPTHQ	EGGAGQGLAHDRCTGQNVVPEPTHQ	1.0	4.0	unscreened	-	4071_2:74742953-74742953 C>T_EGGAGQGLAHDRCTGQNVVPEPTHQ
2:50723094-50723094 T>C	0.0	4071	COLON	-	-	-	-	NRXN1	ENST00000406316,p.T1007A|ENST00000405472,p.T999A|uc002rxb.4,p.T679A|NM_001135659,p.T1047A|ENST00000401669,p.T1007A|NM_004801,p.T1007A|ENST00000404971,p.T1047A|ENST00000401710,p.T16A|ENST00000406859,p.T1007A|uc021vhh.1,p.T1007A|ENST00000402717,p.T999A|uc021vhg.1,p.T1047A	retained_intron, protein_coding, processed_transcript	uc021vhh.1	nonsynonymous SNV	exon14	c.A3019G	p.T1007A	RDTSNLHTVKIDTKITTQITAGARN	RDTSNLHTVKIDAKITTQITAGARN	1.0	6.0	unscreened	-	4071_2:50723094-50723094 T>C_RDTSNLHTVKIDAKITTQITAGARN
7:146536805-146536805 G>C	0.0	4071	COLON	-	-	-	2	CNTNAP2	ENST00000361727,p.A71P|NM_014141,p.A71P|uc003weu.2,p.A71P	protein_coding, processed_transcript	uc003weu.2	nonsynonymous SNV	exon3	c.G211C	p.A71P	SPGYAKINKRGGAGGWSPSDSDHYQ	SPGYAKINKRGGPGGWSPSDSDHYQ	5.0	3.0	unscreened	-	4071_7:146536805-146536805 G>C_SPGYAKINKRGGPGGWSPSDSDHYQ
6:72892043-72892043 G>A	0.0	4071	COLON	-	-	-	-	RIMS1	ENST00000518273,p.R290Q|ENST00000521978,p.R290Q|ENST00000517960,p.R290Q|ENST00000348717,p.R290Q|ENST00000491071,p.R290Q|ENST00000264839,p.R290Q|ENST00000522291,p.R290Q|ENST00000520567,p.R290Q|uc003pga.4,p.R290Q|NM_014989,p.R290Q	retained_intron, protein_coding, processed_transcript	uc003pga.4	nonsynonymous SNV	exon6	c.G869A	p.R290Q	SEQNGKGALKSERKRVPKTSAQPVE	SEQNGKGALKSEQKRVPKTSAQPVE	2.0	3.0	unscreened	-	4071_6:72892043-72892043 G>A_SEQNGKGALKSEQKRVPKTSAQPVE
10:13217573-13217573 G>A	0.0	4071	COLON	-	-	ID=COSM181207;OCCURENCE=1(large_intestine)	-	MCM10	uc001imb.3,p.R219Q|ENST00000378714,p.R219Q|uc001ima.3,p.R220Q|NM_182751,p.R220Q|NM_018518,p.R219Q|ENST00000378694,p.R219Q|ENST00000484800,p.R220Q|uc001imc.3,p.R219Q	retained_intron, protein_coding	uc001imc.3	nonsynonymous SNV	exon6	c.G656A	p.R219Q	TSAPSQPLQTISRNKPSGITRGQIV	TSAPSQPLQTISQNKPSGITRGQIV	5.0	4.0	unscreened	-	4071_10:13217573-13217573 G>A_TSAPSQPLQTISQNKPSGITRGQIV
19:9068972-9068972 T>G	0.0	4071	COLON	-	-	-	2	MUC16	ENST00000397910,p.Q6158H|uc002mkp.3,p.Q6158H|NM_024690,p.Q6158H	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.A18474C	p.Q6158H	PLTISTHKTIATQTGPSGVTSLGQL	PLTISTHKTIATHTGPSGVTSLGQL	2.0	6.0	unscreened	-	4071_19:9068972-9068972 T>G_PLTISTHKTIATHTGPSGVTSLGQL
5:96430573-96430573 C>T	0.0	4071	COLON	-	-	-	-	LIX1	NM_153234,p.R243Q|ENST00000274382,p.R243Q|uc003kmy.4,p.R243Q	protein_coding	uc003kmy.4	nonsynonymous SNV	exon6	c.G728A	p.R243Q	QLEEARKAGQELRFYKEKKEILSLA	QLEEARKAGQELQFYKEKKEILSLA	1.0	5.0	unscreened	-	4071_5:96430573-96430573 C>T_QLEEARKAGQELQFYKEKKEILSLA
6:16327915-16327915 A>C	1.0	4071	COLON	-	rs11969612	-	-	ATXN1	uc010jpi.3,p.H209Q|ENST00000436367,p.H209Q|NM_001128164,p.H209Q|NM_000332,p.H209Q|uc003nbt.3,p.H209Q|ENST00000244769,p.H209Q	protein_coding, processed_transcript	uc010jpi.3	nonsynonymous SNV	exon7	c.T627G	p.H209Q	QQQQQQQQQQQQHQHQQQQQQQQQQ	QQQQQQQQQQQQQQHQQQQQQQQQQ	8.0	7.0	unscreened	-	4071_6:16327915-16327915 A>C_QQQQQQQQQQQQQQHQQQQQQQQQQ
12:6760367-6760367 C>G	0.0	4071	COLON	-	-	-	-	ING4	ENST00000341550,p.K247N|uc001qpx.4,p.K245N|NM_016162,p.K247N|ENST00000444704,p.K224N|uc001qpy.4,p.K244N|uc001qpv.4,p.K247N|NM_001127585,p.K224N|uc009zet.3,p.K224N|NM_001127583,p.K245N|ENST00000396807,p.K248N|NM_001127584,p.K244N|NM_001127582,p.K248N|uc001qpw.4,p.K248N|ENST00000412586,p.K245N|ENST00000446105,p.K244N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zet.3	nonsynonymous SNV	exon7	c.G672C	p.K224N	KWFCPRCSQERKKK	KWFCPRCSQERKNK	7.0	5.0	unscreened	-	4071_12:6760367-6760367 C>G_KWFCPRCSQERKNK
6:26184238-26184238 A>T	1.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	HIST1H2BE	ENST00000356530,p.E72V|uc003ngt.3,p.E72V|NM_003523,p.E72V	protein_coding	uc003ngt.3	nonsynonymous SNV	exon1	c.A215T	p.E72V	MGIMNSFVNDIFERIAGEASRLAHY	MGIMNSFVNDIFVRIAGEASRLAHY	10.0	10.0	CD8	-	4077_6:26184238-26184238 A>T_MGIMNSFVNDIFVRIAGEASRLAHY
2:220435885-220435885 C>A	1.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	OBSL1	NM_015311,p.V24L|ENST00000404537,p.V24L|uc010fwk.3,p.V24L|uc010fwl.2,p.V24L|ENST00000373873,p.V24L|ENST00000603926,p.V24L|uc002vmi.3,p.V24L|NM_001173408,p.V24L|NM_001173431,p.V24L|ENST00000265318,p.V24L|ENST00000373876,p.V24L	retained_intron, protein_coding, processed_transcript	uc010fwl.2	nonsynonymous SNV	exon1	c.G70T	p.V24L	PCFLRFPRPVRVVSGAEAELKCVVL	PCFLRFPRPVRVLSGAEAELKCVVL	9.0	3.0	unscreened	-	4077_2:220435885-220435885 C>A_PCFLRFPRPVRVLSGAEAELKCVVL
20:35854149-35854149 G>A	1.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	RPN2	uc002xgp.3,p.A415T|NM_001135771,p.A383T|NM_002951,p.A415T|uc010gfw.2,p.A258T|uc002xgq.3,p.A383T|ENST00000373622,p.A383T|ENST00000237530,p.A415T|uc021wdb.1,p.A197T	protein_coding, processed_transcript, nonsense_mediated_decay	uc021wdb.1	nonsynonymous SNV	exon9	c.G589A	p.A197T	KGTFIADSHQNFALFFQLVDVNTGA	KGTFIADSHQNFTLFFQLVDVNTGA	10.0	8.0	-	-	4077_20:35854149-35854149 G>A_KGTFIADSHQNFTLFFQLVDVNTGA
18:21483031-21483031 C>T	1.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	LAMA3	NM_198129,p.A2087V|ENST00000313654,p.A2087V|uc002kut.4,p.A422V|NM_001127717,p.A2031V|uc002kus.4,p.A478V|uc002kuq.3,p.A2087V|NM_001127718,p.A422V|NM_000227,p.A478V|ENST00000587184,p.A422V|uc002kur.3,p.A2031V|ENST00000269217,p.A478V|ENST00000399516,p.A2031V	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc002kut.4	nonsynonymous SNV	exon11	c.C1265T	p.A422V	SLQSDFTKYLTTADSSLLQTNIALQ	SLQSDFTKYLTTVDSSLLQTNIALQ	9.0	8.0	-	-	4077_18:21483031-21483031 C>T_SLQSDFTKYLTTVDSSLLQTNIALQ
17:18160236-18160236 G>A	1.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	FLII	ENST00000579294,p.A43V|uc002gsr.2,p.A54V|ENST00000578558,p.A54V|uc002gss.2,p.A54V|NM_002018,p.A54V|ENST00000473425,p.A23V|ENST00000545457,p.A54V|ENST00000379450,p.A23V|ENST00000327031,p.A54V|uc010vxn.2,p.A23V|NM_001256265,p.A54V|NM_001256264,p.A43V|uc031qzd.1,p.A43V|ENST00000581349,p.A23V|uc010vxo.2,p.A54V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qzd.1	nonsynonymous SNV	exon2	c.C128T	p.A43V	RTGLCYLPEELAALQKLEHLSVSHN	RTGLCYLPEELAVLQKLEHLSVSHN	10.0	4.0	-	-	4077_17:18160236-18160236 G>A_RTGLCYLPEELAVLQKLEHLSVSHN
5:14713768-14713768 T>C	1.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	ANKH	ENST00000284268,p.R384G|uc003jfm.4,p.R384G|NM_054027,p.R384G|ENST00000535119,p.R186G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jfm.4	nonsynonymous SNV	exon10	c.A1150G	p.R384G	RIFSFFPVPVTVRAHLTGWLMTLKK	RIFSFFPVPVTVGAHLTGWLMTLKK	8.0	2.0	-	-	4077_5:14713768-14713768 T>C_RIFSFFPVPVTVGAHLTGWLMTLKK
12:56740609-56740609 C>A	1.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	STAT2	uc001sld.3,p.D615Y|uc001slb.3,p.D161Y|ENST00000557235,p.D615Y|NM_005419,p.D619Y|ENST00000314128,p.D619Y|NM_198332,p.D615Y|uc001slc.3,p.D619Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sld.3	nonsynonymous SNV	exon20	c.G1843T	p.D615Y	EGGITCSWVEHQDDDKVLIYSVQPY	EGGITCSWVEHQYDDKVLIYSVQPY	10.0	4.0	-	-	4077_12:56740609-56740609 C>A_EGGITCSWVEHQYDDKVLIYSVQPY
1:249148217-249148217 A>C	1.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	ZNF692	uc001iff.2,p.S313A|ENST00000366471,p.S313A|uc010pzr.2,p.S363A|uc001ifc.2,p.S358A|NM_001193328,p.S313A|ENST00000306601,p.S358A|ENST00000427146,p.S313A|uc001iez.2,p.S80A|uc031pta.1,p.S80A|NM_017865,p.S358A|ENST00000366469,p.S357A|ENST00000451251,p.S363A|NM_001136036,p.S363A|uc001ifb.2,p.S154A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pta.1	nonsynonymous SNV	exon6	c.T238G	p.S80A	NHHKKYQHIHQKSFSCPEPACGKSF	NHHKKYQHIHQKAFSCPEPACGKSF	8.0	10.0	-	-	4077_1:249148217-249148217 A>C_NHHKKYQHIHQKAFSCPEPACGKSF
2:25463191-25463191 C>A	1.0	4077	CHOLANGIOCARCINOMA	-	-	-	1	DNMT3A	ENST00000380756,p.D768Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000380756	nonsynonymous SNV	exon19	c.G2302T	p.D768Y	ENVVAMGVSDKRDISRFLEVQNSHL	ENVVAMGVSDKRYISRFLEVQNSHL	7.0	6.0	-	-	4077_2:25463191-25463191 C>A_ENVVAMGVSDKRYISRFLEVQNSHL
3:145938658-145938661 TTTG>-	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	PLSCR4	uc010huy.3,p.T20fs|NM_020353,p.T20fs|NM_001128306,p.T20fs|uc010hva.3,p.T20fs|uc003evt.4,p.T20fs|ENST00000498625,p.T20fs|NM_001128304,p.T20fs|ENST00000493382,p.T20fs|ENST00000460885,p.T20fs|uc010huz.3,p.T20fs|ENST00000476202,p.T20fs|ENST00000446574,p.T20fs|ENST00000481701,p.T20fs|ENST00000354952,p.T20fs|ENST00000460350,p.T20fs|ENST00000383083,p.T20fs|NM_001128305,p.T20fs	retained_intron, protein_coding	uc010hva.3	frameshift deletion	exon3	c.59_62del	p.T20fs	APEQPAGEMENQTKPPDPRPDAPPE	APEQPAGEMENQNHQIQGLMLLLNTILIFYQDPLEQLSLHLLATQEACLWDTTVHSNPVPSLCTSQLVVSILSGISLANILCQISLFQ	7.0	4.0	unscreened	-	4077_3:145938658-145938661 TTTG>-_APEQPAGEMENQNHQIQGLMLLLNTILIFYQDPLEQLSLHLLATQEACLWDTTVHSNPVPSLCTSQLVVSILSGISLANILCQISLFQ
7:100420268-100420268 G>A	1.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	EPHB4	ENST00000358173,p.H145Y|uc011kkf.1,p.H145Y|uc011kkh.1,p.H145Y|uc003uwm.1,p.H52Y|ENST00000360620,p.H145Y|uc003uwn.1,p.H145Y|uc011kkg.1,p.H145Y|uc010lhj.1,p.H145Y|NM_004444,p.H145Y	retained_intron, protein_coding, processed_transcript	uc011kkh.1	nonsynonymous SNV	exon4	c.C433T	p.H145Y	NPYIKVDTVAAEHLTRKRPGAEATG	NPYIKVDTVAAEYLTRKRPGAEATG	8.0	3.0	unscreened	-	4077_7:100420268-100420268 G>A_NPYIKVDTVAAEYLTRKRPGAEATG
2:21260975-21260975 A>G	1.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	APOB	NM_000384,p.L131P|ENST00000233242,p.L131P|ENST00000399256,p.L131P|uc002red.3,p.L131P	protein_coding	uc002red.3	nonsynonymous SNV	exon5	c.T392C	p.L131P	SEEFAAAMSRYELKLAIPEGKQVFL	SEEFAAAMSRYEPKLAIPEGKQVFL	9.0	3.0	-	-	4077_2:21260975-21260975 A>G_SEEFAAAMSRYEPKLAIPEGKQVFL
12:1225081-1225081 C>T	1.0	4077	CHOLANGIOCARCINOMA	-	-	-	1	ERC1	uc001qjc.2,p.A456V|ENST00000542302,p.A484V|uc009zdp.3,p.A124V|NM_178040,p.A484V|NM_001301248,p.A484V|ENST00000360905,p.A484V|ENST00000355446,p.A484V|ENST00000440394,p.A456V|ENST00000589028,p.A484V|uc001qjf.2,p.A484V|ENST00000546231,p.A484V|ENST00000543086,p.A456V|uc010sdv.1,p.A232V|ENST00000347735,p.A456V|ENST00000397203,p.A484V|NM_178039,p.A456V|ENST00000592048,p.A305V|uc001qjb.2,p.A484V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sdv.1	nonsynonymous SNV	exon4	c.C695T	p.A232V	KQELSRKDTELLALQTKLETLTNQF	KQELSRKDTELLVLQTKLETLTNQF	9.0	5.0	-	-	4077_12:1225081-1225081 C>T_KQELSRKDTELLVLQTKLETLTNQF
6:44118360-44118360 G>T	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	TMEM63B	ENST00000259746,p.R556L|NM_018426,p.R556L|ENST00000323267,p.R556L|uc003owr.3,p.R556L|uc003ows.3,p.R459L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ows.3	nonsynonymous SNV	exon15	c.G1376T	p.R459L	LFDKKFLAEAAIRFECVFLPDNGAF	LFDKKFLAEAAILFECVFLPDNGAF	6.0	9.0	-	-	4077_6:44118360-44118360 G>T_LFDKKFLAEAAILFECVFLPDNGAF
9:37442285-37442290 GGTGGA>-	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	ZBTB5	NM_014872,p.87_88del|uc003zzx.3,p.87_88del|ENST00000307750,p.87_88del|uc022bgv.1,p.87_88del	protein_coding	uc022bgv.1	nonframeshift deletion	exon1	c.259_264del	p.87_88del	EAFAALIDMMYTSTLMLGESNVMDV	EAFAALIDMMYTLMLGESNVMDVLL	6.0	8.0	-	-	4077_9:37442285-37442290 GGTGGA>-_EAFAALIDMMYTLMLGESNVMDVLL
17:30320975-30320975 G>A	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	1	SUZ12	ENST00000322652,p.S462N|uc002hgt.2,p.S439N|ENST00000580398,p.S439N|NM_015355,p.S462N|uc002hgs.2,p.S462N	retained_intron, protein_coding	uc002hgt.2	nonsynonymous SNV	exon11	c.G1316A	p.S439N	CPWCTLNCRKLYSLLKHLKLCHSRF	CPWCTLNCRKLYNLLKHLKLCHSRF	7.0	1.0	unscreened	-	4077_17:30320975-30320975 G>A_CPWCTLNCRKLYNLLKHLKLCHSRF
2:25463191-25463191 C>A	1.0	4077	CHOLANGIOCARCINOMA	-	-	-	1	DNMT3A	NM_022552,p.D768Y|ENST00000402667,p.D545Y|NM_153759,p.D579Y|uc002rgc.4,p.D768Y|NM_175629,p.D768Y|ENST00000321117,p.D768Y|ENST00000264709,p.D768Y|uc002rgd.4,p.D768Y|uc002rgb.4,p.D579Y|ENST00000380746,p.D579Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002rgd.4	nonsynonymous SNV	exon19	c.G2302T	p.D768Y	ENVVAMGVSDKRDISRFLESNPVMI	ENVVAMGVSDKRYISRFLESNPVMI	7.0	6.0	-	-	4077_2:25463191-25463191 C>A_ENVVAMGVSDKRYISRFLESNPVMI
11:16800564-16800564 T>A	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	C11orf58,PLEKHA7	uc010rcu.1,p.Q1267L|ENST00000531066,p.Q1266L	retained_intron, protein_coding, processed_transcript	uc010rcu.1	nonsynonymous SNV	exon27	c.A3800T	p.Q1267L	SEASQRSKQVAAQAVTDP	SEASQRSKQVAALAVTDP	8.0	8.0	-	-	4077_11:16800564-16800564 T>A_SEASQRSKQVAALAVTDP
7:42007425-42007425 C>A	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	GLI3	uc011kbh.2,p.D734Y|ENST00000395925,p.D734Y|uc011kbg.2,p.D675Y|NM_000168,p.D734Y	retained_intron, protein_coding, processed_transcript	uc011kbh.2	nonsynonymous SNV	exon14	c.G2200T	p.D734Y	NYSNSGLELPLTDGGSIGDLSAIDE	NYSNSGLELPLTYGGSIGDLSAIDE	6.0	5.0	-	-	4077_7:42007425-42007425 C>A_NYSNSGLELPLTYGGSIGDLSAIDE
8:42275448-42275448 C>T	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	SLC20A2	ENST00000342228,p.R611H|uc003xpe.4,p.R611H|NM_006749,p.R611H|NM_001257180,p.R611H|uc010lxm.4,p.R611H|ENST00000520179,p.R611H|uc010lxl.4,p.R611H|ENST00000520262,p.R611H|uc011lcu.3,p.R413H|NM_001257181,p.R611H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lcu.3	nonsynonymous SNV	exon7	c.G1238A	p.R413H	VGSVVAVGWIRSRKAVDWRLFRNIF	VGSVVAVGWIRSHKAVDWRLFRNIF	9.0	3.0	unscreened	-	4077_8:42275448-42275448 C>T_VGSVVAVGWIRSHKAVDWRLFRNIF
17:30320971-30320974 TATA>-	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	1	SUZ12	ENST00000580398,p.Y438fs|ENST00000322652,p.Y461fs|uc002hgt.2,p.Y438fs|NM_015355,p.Y461fs|uc002hgs.2,p.Y461fs	retained_intron, protein_coding	uc002hgt.2	frameshift deletion	exon11	c.1312_1315del	p.Y438fs	HCPWCTLNCRKLYSLLKHLKLCHSR	HCPWCTLNCRKLVYSSILNSAIADLSSTMFIIQKVLG	7.0	1.0	unscreened	-	4077_17:30320971-30320974 TATA>-_HCPWCTLNCRKLVYSSILNSAIADLSSTMFIIQKVLG
8:100836172-100836172 A>C	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	VPS13B	ENST00000358544,p.Q3124P|ENST00000357162,p.Q3099P|uc003yiw.4,p.Q3099P|uc003yiv.4,p.Q3124P|NM_152564,p.Q3099P|NM_017890,p.Q3124P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yiw.4	nonsynonymous SNV	exon51	c.A9296C	p.Q3099P	INNTPYQIFYKPQLSVCNPHSGKEY	INNTPYQIFYKPPLSVCNPHSGKEY	8.0	2.0	-	-	4077_8:100836172-100836172 A>C_INNTPYQIFYKPPLSVCNPHSGKEY
17:30320971-30320971 T>A	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	1	SUZ12	uc002hgs.2,p.Y461N|uc002hgt.2,p.Y438N|ENST00000580398,p.Y438N|NM_015355,p.Y461N|ENST00000322652,p.Y461N	retained_intron, protein_coding	uc002hgt.2	nonsynonymous SNV	exon11	c.T1312A	p.Y438N	HCPWCTLNCRKLYSLLKHLKLCHSR	HCPWCTLNCRKLNSLLKHLKLCHSR	7.0	1.0	unscreened	-	4077_17:30320971-30320971 T>A_HCPWCTLNCRKLNSLLKHLKLCHSR
10:104814178-104814179 AT>-	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	CNNM2	ENST00000433628,p.I620fs|uc001kwm.3,p.I620fs|NM_017649,p.I620fs|uc001kwn.3,p.I620fs|NM_199076,p.I620fs|ENST00000369878,p.I620fs	protein_coding, processed_transcript	uc001kwn.3	frameshift deletion	exon3	c.1858_1859del	p.I620fs	AFKQTDSEMKVKISPQLLLAMHRFL	AFKQTDSEMKVKITTAPPGHAPFPSNRSRSI	6.0	1.0	unscreened	-	4077_10:104814178-104814179 AT>-_AFKQTDSEMKVKITTAPPGHAPFPSNRSRSI
17:30320972-30320975 ATAG>-	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	1	SUZ12	ENST00000580398,p.Y438fs|ENST00000322652,p.Y461fs|uc002hgt.2,p.Y438fs|NM_015355,p.Y461fs|uc002hgs.2,p.Y461fs	retained_intron, protein_coding	uc002hgt.2	frameshift deletion	exon11	c.1313_1316del	p.Y438fs	HCPWCTLNCRKLYSLLKHLKLCHSR	HCPWCTLNCRKLFYSSILNSAIADLSSTMFIIQKVLG	7.0	2.0	unscreened	-	4077_17:30320972-30320975 ATAG>-_HCPWCTLNCRKLFYSSILNSAIADLSSTMFIIQKVLG
8:22458754-22458754 C>A	1.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	C8orf58	ENST00000409586,p.Q134K|uc003xce.3,p.Q134K|ENST00000289989,p.Q134K|NM_001198827,p.Q134K|uc003xcf.3,p.Q134K|uc011kzl.2,p.Q134K|NM_001013842,p.Q134K|ENST00000450780,p.Q203K|NM_173686,p.Q134K	 processed_transcript,protein_coding	uc011kzl.2	nonsynonymous SNV	exon2	c.C400A	p.Q134K	RRLPTAPTSLSGQHRSLRLASKPER	RRLPTAPTSLSGKHRSLRLASKPER	5.0	7.0	-	-	4077_8:22458754-22458754 C>A_RRLPTAPTSLSGKHRSLRLASKPER
16:57608879-57608879 A>G	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	GPR114	uc010vhr.2,p.M415V	retained_intron, protein_coding, processed_transcript	uc010vhr.2	nonsynonymous SNV	exon10	c.A1243G	p.M415V	GSGRMHQVSGPAMTLSLCWASPCCW	GSGRMHQVSGPAVTLSLCWASPCCW	4.0	4.0	-	-	4077_16:57608879-57608879 A>G_GSGRMHQVSGPAVTLSLCWASPCCW
14:99927562-99927562 C>G	1.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	SETD3	ENST00000331768,p.E104D|uc031qqj.1,p.E104D|uc001ygd.3,p.E104D|NM_032233,p.E104D|ENST00000329331,p.E104D|ENST00000436070,p.E104D|uc001ygc.3,p.E104D|uc021sbn.1,p.E104D|uc001ygf.3,p.E104D|NM_199123,p.E104D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qqj.1	nonsynonymous SNV	exon4	c.G312C	p.E104D	SVEGFEMVNFKEEGFGLRATRDIKA	SVEGFEMVNFKEDGFGLRATRDIKA	8.0	10.0	-	-	4077_14:99927562-99927562 C>G_SVEGFEMVNFKEDGFGLRATRDIKA
17:8644841-8644841 T>C	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	CCDC42	NM_144681,p.D148G|NM_001158261,p.D148G|ENST00000539522,p.D148G|uc002glo.3,p.D148G|uc002gln.3,p.D148G|ENST00000293845,p.D148G	protein_coding	uc002glo.3	nonsynonymous SNV	exon4	c.A443G	p.D148G	RLEHQRLSAKLKDYYIFNKYLEKVV	RLEHQRLSAKLKGYYIFNKYLEKVV	1.0	8.0	-	-	4077_17:8644841-8644841 T>C_RLEHQRLSAKLKGYYIFNKYLEKVV
12:129563081-129563081 G>T	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	TMEM132D	uc001uia.2,p.Q243K|ENST00000422113,p.Q705K|uc009zyl.1,p.Q705K|ENST00000389441,p.Q243K|NM_133448,p.Q705K	protein_coding	uc009zyl.1	nonsynonymous SNV	exon8	c.C2113A	p.Q705K	TAVAQELLQRPKQEAAISCWVQFSD	TAVAQELLQRPKKEAAISCWVQFSD	1.0	1.0	unscreened	-	4077_12:129563081-129563081 G>T_TAVAQELLQRPKKEAAISCWVQFSD
16:57608879-57608879 A>G	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	GPR114	uc002ely.3,p.H454R|ENST00000349457,p.H454R|NM_153837,p.H454R|uc002elx.4,p.H454R|ENST00000340339,p.H454R	retained_intron, protein_coding, processed_transcript	uc002ely.3	nonsynonymous SNV	exon11	c.A1361G	p.H454R	RERADAPSVRACHDTVTVLGLTVLL	RERADAPSVRACRDTVTVLGLTVLL	4.0	4.0	-	-	4077_16:57608879-57608879 A>G_RERADAPSVRACRDTVTVLGLTVLL
2:163393561-163393561 T>G	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	KCNH7	NM_173162,p.I113L|ENST00000332142,p.I113L|uc002uci.3,p.I113L|NM_033272,p.I113L|uc002uch.2,p.I113L|ENST00000328032,p.I113L	protein_coding, processed_transcript	uc002uci.3	nonsynonymous SNV	exon3	c.A337C	p.I113L	KNGSTFICNTHIIPVKNQEGVAMMF	KNGSTFICNTHILPVKNQEGVAMMF	1.0	6.0	-	-	4077_2:163393561-163393561 T>G_KNGSTFICNTHILPVKNQEGVAMMF
1:223176829-223176829 C>T	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	DISP1	NM_032890,p.A697V|uc001hnu.2,p.A697V|ENST00000284476,p.A697V	protein_coding, processed_transcript	uc001hnu.2	nonsynonymous SNV	exon10	c.C2090T	p.A697V	TVACQKCHKVLFAISEASRIFFEKV	TVACQKCHKVLFVISEASRIFFEKV	5.0	2.0	-	-	4077_1:223176829-223176829 C>T_TVACQKCHKVLFVISEASRIFFEKV
8:91075378-91075378 T>A	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	CALB1	ENST00000265431,p.I184F|ENST00000518457,p.I127F|uc011lge.1,p.I127F|NM_004929,p.I184F|uc003yel.1,p.I184F	retained_intron, protein_coding	uc011lge.1	nonsynonymous SNV	exon8	c.A379T	p.I127F	PVQENFLLKFQGIKMCGKEFNKAFE	PVQENFLLKFQGFKMCGKEFNKAFE	1.0	10.0	-	-	4077_8:91075378-91075378 T>A_PVQENFLLKFQGFKMCGKEFNKAFE
21:34166143-34166143 G>C	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	C21orf62	ENST00000487113,p.P197R|NM_019596,p.P197R|ENST00000536776,p.P197R|uc021wik.1,p.P197R|ENST00000382373,p.P244R|ENST00000479548,p.P197R|uc011adu.2,p.P197R|NM_001162495,p.P197R|uc011adt.2,p.P197R|NM_001162496,p.P197R|ENST00000490358,p.P197R|uc010glz.3,p.P197R	protein_coding	uc021wik.1	nonsynonymous SNV	exon1	c.C590G	p.P197R	SIENVTSIANNFPDFSYFRTFPMPS	SIENVTSIANNFRDFSYFRTFPMPS	1.0	9.0	-	-	4077_21:34166143-34166143 G>C_SIENVTSIANNFRDFSYFRTFPMPS
1:52442644-52442644 G>-	1.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	RAB3B	uc001cth.3,p.P49fs|ENST00000371655,p.P49fs|NM_002867,p.P49fs	protein_coding	uc001cth.3	frameshift deletion	exon2	c.146delC	p.P49fs	SFLFRYADDTFTPAFVSTVGIDFKV	SFLFRYADDTFTQPSLAPWASTSR	4.0	9.0	-	-	4077_1:52442644-52442644 G>-_SFLFRYADDTFTQPSLAPWASTSR
20:31678599-31678599 C>G	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	BPIFB4	uc010zue.2,p.D379E|ENST00000375483,p.D379E|NM_182519,p.D379E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zue.2	nonsynonymous SNV	exon8	c.C1137G	p.D379E	SLPLVTGEFLELDLNTLVGEAGGGL	SLPLVTGEFLELELNTLVGEAGGGL	1.0	5.0	-	-	4077_20:31678599-31678599 C>G_SLPLVTGEFLELELNTLVGEAGGGL
17:10404614-10404614 T>A	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	MYH1	ENST00000226207,p.E1184V|NM_005963,p.E1184V|uc002gmo.3,p.E1184V	protein_coding	uc002gmo.3	nonsynonymous SNV	exon27	c.A3551T	p.E1184V	EAEFQKMRRDLEEATLQHEATAATL	EAEFQKMRRDLEVATLQHEATAATL	1.0	7.0	-	-	4077_17:10404614-10404614 T>A_EAEFQKMRRDLEVATLQHEATAATL
4:47853938-47853938 G>T	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	NFXL1	uc003gxp.3,p.R815S|NM_001278624,p.R815S|ENST00000381538,p.R815S|ENST00000507489,p.R815S|uc003gxo.3,p.R140S|uc010igi.3,p.R815S|uc010igh.3,p.R815S|NM_001278623,p.R815S|NM_152995,p.R815S	retained_intron, protein_coding, nonsense_mediated_decay	uc010igi.3	nonsynonymous SNV	exon21	c.C2443A	p.R815S	KRIKKELQCNKVRENQVSIECDTTC	KRIKKELQCNKVSENQVSIECDTTC	6.0	7.0	-	-	4077_4:47853938-47853938 G>T_KRIKKELQCNKVSENQVSIECDTTC
4:165878179-165878179 A>G	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	FAM218A	ENST00000513876,p.E2G|NM_153027,p.E2G|uc003iqx.1,p.E2G	protein_coding	uc003iqx.1	nonsynonymous SNV	exon1	c.A5G	p.E2G	MEGCAVRRGSCPLL	MGGCAVRRGSCPLL	1.0	10.0	-	-	4077_4:165878179-165878179 A>G_MGGCAVRRGSCPLL
12:69656242-69656242 A>G	1.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	CPSF6	uc001sut.4,p.Y520C|ENST00000435070,p.Y520C|uc010stk.2,p.Y152C|ENST00000266679,p.Y557C|NM_001300947,p.Y557C|uc001suu.4,p.Y557C|ENST00000456847,p.Y447C|NM_007007,p.Y520C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010stk.2	nonsynonymous SNV	exon4	c.A455G	p.Y152C	RHKSRSRDRHDDYYRERSRERERHR	RHKSRSRDRHDDCYRERSRERERHR	8.0	9.0	-	-	4077_12:69656242-69656242 A>G_RHKSRSRDRHDDCYRERSRERERHR
19:7937079-7937079 G>C	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	PRR36	ENST00000539422,p.P351A	protein_coding, processed_transcript	ENST00000539422	nonsynonymous SNV	exon5	c.C1051G	p.P351A	PPPPAALQSQAPPTLPATPHSSSLT	PPPPAALQSQAPATLPATPHSSSLT	5.0	6.0	unscreened	-	4077_19:7937079-7937079 G>C_PPPPAALQSQAPATLPATPHSSSLT
11:57004439-57004439 C>A	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	APLNR	ENST00000257254,p.D14Y|ENST00000606794,p.D14Y|NM_005161,p.D14Y|uc001njo.3,p.D14Y	protein_coding	uc001njo.3	nonsynonymous SNV	exon1	c.G40T	p.D14Y	EEGGDFDNYYGADNQSECEYTDWKS	EEGGDFDNYYGAYNQSECEYTDWKS	4.0	9.0	-	-	4077_11:57004439-57004439 C>A_EEGGDFDNYYGAYNQSECEYTDWKS
19:7937079-7937079 G>C	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	PRR36	uc010dvu.2,p.P350A	protein_coding, processed_transcript	uc010dvu.2	nonsynonymous SNV	exon6	c.C1048G	p.P350A	TPPPPAALQSQAPPTLPATPHSSSL	TPPPPAALQSQAAPTLPATPHSSSL	5.0	6.0	unscreened	-	4077_19:7937079-7937079 G>C_TPPPPAALQSQAAPTLPATPHSSSL
8:101014555-101014555 G>A	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	RGS22	ENST00000523287,p.R708W|uc003yjb.1,p.R889W|NM_015668,p.R889W|ENST00000517828,p.R204W|NM_001286692,p.R877W|uc022azf.1,p.R278W|NM_001286693,p.R708W|uc003yjc.1,p.R877W|ENST00000360863,p.R889W|uc003yja.1,p.R708W|ENST00000523437,p.R877W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022azf.1	nonsynonymous SNV	exon7	c.C832T	p.R278W	MDLMCWTDIEQFRRITYRDRNQRKA	MDLMCWTDIEQFWRITYRDRNQRKA	2.0	3.0	-	-	4077_8:101014555-101014555 G>A_MDLMCWTDIEQFWRITYRDRNQRKA
17:7643196-7643196 G>A	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	DNAH2	uc010vuk.2,p.R439Q|uc002git.3,p.R521Q|ENST00000572933,p.R439Q|ENST00000389173,p.R439Q|uc002giu.1,p.R439Q|NM_020877,p.R439Q|ENST00000082259,p.R521Q|ENST00000570791,p.R521Q	retained_intron, protein_coding, nonsense_mediated_decay	uc010vuk.2	nonsynonymous SNV	exon8	c.G1316A	p.R439Q	IEDIFHKNLHTLRAVRGGILDVKNT	IEDIFHKNLHTLQAVRGGILDVKNT	1.0	7.0	-	-	4077_17:7643196-7643196 G>A_IEDIFHKNLHTLQAVRGGILDVKNT
13:46170808-46170808 T>A	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	ERICH6B	ENST00000298738,p.E111D|NM_182542,p.E111D|uc001val.2,p.E111D|uc001vam.1,p.E111D	retained_intron, protein_coding, processed_transcript	uc001vam.1	nonsynonymous SNV	exon2	c.A333T	p.E111D	EKAGYLEEEEYIEEEEYLGKEGYLE	EKAGYLEEEEYIDEEEYLGKEGYLE	1.0	2.0	unscreened	-	4077_13:46170808-46170808 T>A_EKAGYLEEEEYIDEEEYLGKEGYLE
5:140750194-140750194 G>A	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	PCDHGB3	uc011dat.2,p.S78N|NM_032097,p.S78N|NM_018924,p.S78N|uc003ljw.2,p.S78N|ENST00000576222,p.S78N	protein_coding	uc011dat.2	nonsynonymous SNV	exon1	c.G233A	p.S78N	LRVIAEKKFFTVSPENGNLLVSDRI	LRVIAEKKFFTVNPENGNLLVSDRI	3.0	5.0	-	-	4077_5:140750194-140750194 G>A_LRVIAEKKFFTVNPENGNLLVSDRI
2:186659552-186659562 AAGTAGGACAG>-	0.0	4077	CHOLANGIOCARCINOMA	-	-	-	-	FSIP2	uc002upl.3,p.K2652fs|ENST00000424728,p.K2563fs|NM_173651,p.K2652fs|ENST00000343098,p.K2652fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	frameshift deletion	exon16	c.7956_7966del	p.K2652fs	YLVVVTSLYENNKSRTEVEISDHND	YLVVVTSLYENNKS	2.0	4.0	unscreened	-	4077_2:186659552-186659562 AAGTAGGACAG>-_YLVVVTSLYENNKS
11:117982584-117982584 C>T	1.0	4078	GASTRIC	-	-	-	-	TMPRSS4	uc010rxo.2,p.H236Y|uc021qre.1,p.H233Y|ENST00000534111,p.H236Y|NM_019894,p.H238Y|NM_001173552,p.H198Y|NM_001083947,p.H233Y|uc010rxt.2,p.H213Y|ENST00000522824,p.H233Y|ENST00000522307,p.H91Y|ENST00000519236,p.H236Y|ENST00000523251,p.H198Y|NM_001290094,p.H213Y|uc010rxr.2,p.H213Y|uc010rxq.2,p.H91Y|NM_001173551,p.H236Y|NM_001290096,p.H91Y|ENST00000437212,p.H238Y|uc010rxs.2,p.H198Y|uc021qrd.1,p.H238Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qre.1	nonsynonymous SNV	exon8	c.C697T	p.H233Y	KQHVCGGSILDPHWVLTAAHCFRKH	KQHVCGGSILDPYWVLTAAHCFRKH	9.0	4.0	-	-	4078_11:117982584-117982584 C>T_KQHVCGGSILDPYWVLTAAHCFRKH
22:41564726-41564735 TTTGTGGACA>-	1.0	4078	GASTRIC	-	-	-	1	EP300	uc003azl.4,p.F1343fs|ENST00000263253,p.F1343fs|NM_001429,p.F1343fs	protein_coding	uc003azl.4	frameshift deletion	exon25	c.4027_4036del	p.F1343fs	KTVEVKPGMKARFVDSGEMAESFPY	KTVEVKPGMKARVERWQNPFHTEPKPSLPLKKLMVLTCASLACMFKSMALTALHPTRGEYTYLTSIVFISSVLNA	7.0	9.0	unscreened	-	4078_22:41564726-41564735 TTTGTGGACA>-_KTVEVKPGMKARVERWQNPFHTEPKPSLPLKKLMVLTCASLACMFKSMALTALHPTRGEYTYLTSIVFISSVLNA
11:111910040-111910041 GG>TT	1.0	4078	GASTRIC	-	-	-	-	DLAT	NM_001931,p.G350V|ENST00000393051,p.G245V|uc021qqn.1,p.G294V|uc001pmo.3,p.G350V|uc010rwr.2,p.G223V|ENST00000280346,p.G350V|ENST00000537636,p.G121V|ENST00000531306,p.G182V	retained_intron, protein_coding, nonsense_mediated_decay	uc021qqn.1	nonsynonymous SNV	exon7	c.GG1048-1049TT	p.G223L	PTPSAPCPATPAGPKGRVFVSPLAK	PTPSAPCPATPALPKGRVFVSPLAK	8.0	4.0	-	7367090_11:111910041-111910041 G>T_PTPSAPCPATPAVPKGRVFVSPLAK	4078_11:111910040-111910041 GG>TT_PTPSAPCPATPALPKGRVFVSPLAK
12:133146740-133146742 GCG>-	1.0	4078	GASTRIC	-	-	-	-	FBRSL1	ENST00000434748,p.307_308del|ENST00000261673,p.234_235del|NM_001142641,p.307_308del|uc001ukf.3,p.307_308del	retained_intron, protein_coding, processed_transcript	uc001ukf.3	nonframeshift deletion	exon7	c.920_922del	p.307_308del	HRHTPQPPPPQPRGLLPTHVPASLG	HRHTPQPPPPQPRLLPTHVPASLGA	8.0	10.0	-	-	4078_12:133146740-133146742 GCG>-_HRHTPQPPPPQPRLLPTHVPASLGA
2:189434788-189434788 A>-	1.0	4078	GASTRIC	-	-	-	-	GULP1	ENST00000409805,p.K81fs|uc010zfw.2,p.K81fs|uc002uqg.3,p.K184fs|ENST00000409830,p.K184fs|NM_001252669,p.K81fs|uc002uqf.3,p.K184fs|NM_001252668,p.K184fs|uc002uqd.3,p.K184fs|ENST00000359135,p.K184fs|uc010fru.3,p.K184fs|ENST00000409843,p.K184fs|NM_016315,p.K184fs|ENST00000409609,p.K184fs|ENST00000409580,p.K184fs	retained_intron, protein_coding, processed_transcript	uc010zfw.2	frameshift deletion	exon6	c.241delA	p.K81fs	RIQDLETENMELKNKVQDLENQLRI	RIQDLETENMELKIKYKIWKTN	9.0	5.0	-	-	4078_2:189434788-189434788 A>-_RIQDLETENMELKIKYKIWKTN
3:49016920-49016920 T>C	1.0	4078	GASTRIC	-	-	-	-	ARIH2	uc003cvf.3,p.C241R|ENST00000356401,p.C323R|NM_006321,p.C323R|uc003cvb.3,p.C323R|uc003cvc.3,p.C323R|ENST00000449376,p.C323R|uc010hkl.3,p.C323R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hkl.3	nonsynonymous SNV	exon10	c.T967C	p.C323R	NHMQCSKCKHDFCWMCLGDWKTHGS	NHMQCSKCKHDFRWMCLGDWKTHGS	10.0	7.0	-	-	4078_3:49016920-49016920 T>C_NHMQCSKCKHDFRWMCLGDWKTHGS
11:3128545-3128545 G>A	1.0	4078	GASTRIC	-	-	-	-	OSBPL5	NM_145638,p.P268L|NM_020896,p.P336L|uc009ydw.2,p.P268L|ENST00000348039,p.P268L|uc009ydx.3,p.P360L|uc001lxk.2,p.P336L|uc010qxq.1,p.P247L|NM_001144063,p.P268L|ENST00000389989,p.P268L|uc001lxl.2,p.P268L|ENST00000263650,p.P336L|ENST00000525498,p.P247L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qxq.1	nonsynonymous SNV	exon7	c.C740T	p.P247L	ESGSDQSETPGAPVRRGTTYVEQVQ	ESGSDQSETPGALVRRGTTYVEQVQ	9.0	9.0	-	-	4078_11:3128545-3128545 G>A_ESGSDQSETPGALVRRGTTYVEQVQ
14:31085665-31085665 A>C	1.0	4078	GASTRIC	-	-	-	-	G2E3	ENST00000553504,p.Q712H|uc001wql.1,p.Q194H|uc001wqk.2,p.Q682H|ENST00000206595,p.Q682H|ENST00000438909,p.Q636H|uc010tpf.1,p.Q636H|NM_017769,p.Q682H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tpf.1	nonsynonymous SNV	exon14	c.A1908C	p.Q636H	LAIPITNTYKEFQENMDFTIRNTLR	LAIPITNTYKEFHENMDFTIRNTLR	7.0	5.0	-	-	4078_14:31085665-31085665 A>C_LAIPITNTYKEFHENMDFTIRNTLR
16:88804452-88804452 G>A	1.0	4078	GASTRIC	-	-	-	-	PIEZO1	uc010vpb.2,p.L304F|ENST00000301015,p.L304F|NM_001142864,p.L304F	retained_intron, protein_coding, nonsense_mediated_decay	uc010vpb.2	nonsynonymous SNV	exon8	c.C910T	p.L304F	GPTNCSSPHALVLNTGLDWPVYASP	GPTNCSSPHALVFNTGLDWPVYASP	9.0	10.0	-	-	4078_16:88804452-88804452 G>A_GPTNCSSPHALVFNTGLDWPVYASP
1:1233422-1233422 C>A	1.0	4078	GASTRIC	-	-	-	-	ACAP3	uc001ady.2,p.R59S|NM_030649,p.R329S|uc001aea.2,p.R287S|ENST00000354700,p.R329S|ENST00000353662,p.R287S|uc001aeb.2,p.R329S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001aeb.2	nonsynonymous SNV	exon13	c.G987T	p.R329S	LCSVKPCEDIERRFCFEVLSPTKSC	LCSVKPCEDIERSFCFEVLSPTKSC	7.0	7.0	-	-	4078_1:1233422-1233422 C>A_LCSVKPCEDIERSFCFEVLSPTKSC
7:56065082-56065082 G>A	1.0	4078	GASTRIC	-	-	-	-	GBAS	NM_001483,p.E246K|uc003trf.2,p.E207K|ENST00000446778,p.E207K|NM_001202469,p.E207K|ENST00000322090,p.E246K|uc003tre.2,p.E246K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003trf.2	nonsynonymous SNV	exon7	c.G619A	p.E207K	HHLWAYRDLQTREDIRNAAWHKHGW	HHLWAYRDLQTRKDIRNAAWHKHGW	8.0	3.0	CD8	-	4078_7:56065082-56065082 G>A_HHLWAYRDLQTRKDIRNAAWHKHGW
X:24830886-24830886 C>G	1.0	4078	GASTRIC	-	-	-	-	POLA1	ENST00000379068,p.P1068A|NM_016937,p.P1062A|uc004dbl.3,p.P1062A|ENST00000379059,p.P1062A	protein_coding, processed_transcript	uc004dbl.3	nonsynonymous SNV	exon29	c.C3184G	p.P1062A	LKKKKYAALVVEPTSDGNYVTKQEL	LKKKKYAALVVEATSDGNYVTKQEL	6.0	8.0	-	-	4078_X:24830886-24830886 C>G_LKKKKYAALVVEATSDGNYVTKQEL
1:79383605-79383605 T>G	0.0	4078	GASTRIC	-	-	-	-	ELTD1	uc001diq.4,p.K531T|ENST00000370742,p.K531T|NM_022159,p.K531T	protein_coding	uc001diq.4	nonsynonymous SNV	exon11	c.A1592C	p.K531T	VVGVIYNKGFLHKNFYIFGYLSPAV	VVGVIYNKGFLHTNFYIFGYLSPAV	5.0	10.0	-	-	4078_1:79383605-79383605 T>G_VVGVIYNKGFLHTNFYIFGYLSPAV
16:30536442-30536442 G>T	1.0	4078	GASTRIC	-	-	-	-	ZNF768	uc010vew.2,p.S309Y|ENST00000562803,p.S309Y|ENST00000380412,p.S340Y|NM_024671,p.S340Y|uc010vex.2,p.S309Y|uc002dyk.4,p.S340Y	protein_coding	uc010vex.2	nonsynonymous SNV	exon4	c.C926A	p.S309Y	DSSYLLRHQRTHSGQKPYKCPHCGK	DSSYLLRHQRTHYGQKPYKCPHCGK	9.0	1.0	-	-	4078_16:30536442-30536442 G>T_DSSYLLRHQRTHYGQKPYKCPHCGK
17:27044353-27044353 C>A	0.0	4078	GASTRIC	-	-	-	-	NARR	NM_001256281,p.R125L|uc031qzq.1,p.R125L	retained_intron, protein_coding, nonsense_mediated_decay	uc031qzq.1	nonsynonymous SNV	exon1	c.G374T	p.R125L	GTPRPRVIVGSPRARVADADPASAP	GTPRPRVIVGSPLARVADADPASAP	7.0	8.0	-	-	4078_17:27044353-27044353 C>A_GTPRPRVIVGSPLARVADADPASAP
3:184025700-184025700 G>C	1.0	4078	GASTRIC	-	-	-	-	PSMD2	uc011brk.1,p.G644A|NM_001278709,p.G615A|ENST00000435761,p.G615A|ENST00000439383,p.G644A|uc003fnn.1,p.G774A|NM_001278708,p.G644A|ENST00000310118,p.G774A|NM_002808,p.G774A|uc011brj.1,p.G615A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011brk.1	nonsynonymous SNV	exon17	c.G1931C	p.G644A	VRLAQGLTHLGKGTLTLCPYHSDRQ	VRLAQGLTHLGKATLTLCPYHSDRQ	10.0	8.0	-	-	4078_3:184025700-184025700 G>C_VRLAQGLTHLGKATLTLCPYHSDRQ
16:89958640-89958640 G>T	1.0	4078	GASTRIC	-	-	-	-	TCF25	ENST00000263346,p.W218C|NM_014972,p.W218C|ENST00000565196,p.W196C|ENST00000561958,p.W206C|uc002fpb.2,p.W218C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002fpb.2	nonsynonymous SNV	exon6	c.G654T	p.W218C	PRQRQRVYPKCTWLTTPKSTWPRYS	PRQRQRVYPKCTCLTTPKSTWPRYS	10.0	9.0	-	-	4078_16:89958640-89958640 G>T_PRQRQRVYPKCTCLTTPKSTWPRYS
7:120446742-120446742 T>G	1.0	4078	GASTRIC	-	-	-	-	TSPAN12	ENST00000415871,p.K158T|uc010lkj.3,p.K31T|uc003vjk.3,p.K158T|NM_012338,p.K158T|ENST00000222747,p.K158T	protein_coding, nonsense_mediated_decay	uc010lkj.3	nonsynonymous SNV	exon3	c.A92C	p.K31T	LTHAWNFFQREFKCCGVVYFTDWLE	LTHAWNFFQREFTCCGVVYFTDWLE	5.0	7.0	-	-	4078_7:120446742-120446742 T>G_LTHAWNFFQREFTCCGVVYFTDWLE
8:28827978-28827978 A>C	1.0	4078	GASTRIC	-	-	-	-	HMBOX1	ENST00000287701,p.S148R|NM_024567,p.S148R|uc003xhd.4,p.S148R|ENST00000519047,p.S148R|NM_001135726,p.S148R|ENST00000523613,p.S148R|ENST00000444075,p.S148R|ENST00000403668,p.S148R|ENST00000355231,p.S148R|uc003xhf.3,p.S136R|ENST00000524238,p.S148R|uc011lay.2,p.S148R|ENST00000521516,p.S148R|uc003xhg.3,p.S136R|ENST00000397358,p.S148R|uc010lvd.3,p.S148R|ENST00000560599,p.S148R|ENST00000558662,p.S148R|uc003xhe.3,p.S148R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lay.2	nonsynonymous SNV	exon2	c.A442C	p.S148R	RYHANSMGQRSYSFEASEEDLDVDD	RYHANSMGQRSYRFEASEEDLDVDD	8.0	8.0	-	-	4078_8:28827978-28827978 A>C_RYHANSMGQRSYRFEASEEDLDVDD
5:140589779-140589779 G>A	1.0	4078	GASTRIC	-	-	-	-	PCDHB12	ENST00000541609,p.E97K|uc003liz.3,p.E434K|uc011dak.2,p.E97K|ENST00000239450,p.E434K|NM_018932,p.E434K	protein_coding	uc011dak.2	nonsynonymous SNV	exon2	c.G289A	p.E97K	TVTDLGTPRLKTEHNITVLVSDVND	TVTDLGTPRLKTKHNITVLVSDVND	3.0	4.0	-	-	4078_5:140589779-140589779 G>A_TVTDLGTPRLKTKHNITVLVSDVND
5:82834680-82834680 C>T	0.0	4078	GASTRIC	-	-	ID=COSM248985;OCCURENCE=1(pancreas)	-	VCAN	NM_004385,p.T1953M|uc003kil.3,p.T617M|ENST00000343200,p.T966M|ENST00000513960,p.T966M|NM_001164097,p.T966M|uc003kii.3,p.T1953M|uc003kij.3,p.T966M|ENST00000265077,p.T1953M	retained_intron, protein_coding, processed_transcript	uc003kil.3	nonsynonymous SNV	exon1	c.C1850T	p.T617M	YSTVSHPIAKEETVMMEGSGDAAFR	YSTVSHPIAKEEMVMMEGSGDAAFR	10.0	7.0	-	-	4078_5:82834680-82834680 C>T_YSTVSHPIAKEEMVMMEGSGDAAFR
3:130799378-130799378 C>G	1.0	4078	GASTRIC	-	-	-	-	NEK11	ENST00000429253,p.F94L|uc003eoa.3,p.F94L|ENST00000511262,p.F94L|uc003enw.1,p.F94L|ENST00000510769,p.F94L|uc011blm.2,p.F94L|uc003enx.3,p.F94L|ENST00000514915,p.F94L|NM_024800,p.F94L|NM_145910,p.F94L|ENST00000510688,p.F94L|ENST00000508196,p.F94L|ENST00000383366,p.F94L|uc011bll.2,p.F94L|ENST00000356918,p.F94L|ENST00000507910,p.F94L|NM_001146003,p.F94L|uc003eny.3,p.F94L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011blm.2	nonsynonymous SNV	exon3	c.C282G	p.F94L	LLSKLDHPAIVKFHASFVEQDNFCI	LLSKLDHPAIVKLHASFVEQDNFCI	5.0	3.0	-	-	4078_3:130799378-130799378 C>G_LLSKLDHPAIVKLHASFVEQDNFCI
2:225379375-225379375 G>C	1.0	4078	GASTRIC	-	-	-	2	CUL3	NM_003590,p.L165V|uc002vny.3,p.L165V|ENST00000409777,p.L141V|NM_001257197,p.L99V|ENST00000344951,p.L99V|NM_001257198,p.L171V|uc010fwy.2,p.L171V|ENST00000264414,p.L165V|ENST00000409096,p.L141V|uc010zls.2,p.L99V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zls.2	nonsynonymous SNV	exon3	c.C295G	p.L99V	RYGCIRDHLRQTLLDMIARERKGEV	RYGCIRDHLRQTVLDMIARERKGEV	9.0	4.0	-	-	4078_2:225379375-225379375 G>C_RYGCIRDHLRQTVLDMIARERKGEV
5:14368832-14368832 G>A	1.0	4078	GASTRIC	-	-	-	-	TRIO	uc011cna.1,p.A915T|ENST00000512070,p.A905T|ENST00000513206,p.A697T|ENST00000344204,p.A964T|uc003jff.3,p.A964T|NM_007118,p.A964T|uc003jfh.1,p.A613T|ENST00000509967,p.A915T|ENST00000537187,p.A964T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cna.1	nonsynonymous SNV	exon17	c.G2743A	p.A915T	QFQHAIEKTHQSALQVQQKAEAMLQ	QFQHAIEKTHQSTLQVQQKAEAMLQ	10.0	5.0	-	-	4078_5:14368832-14368832 G>A_QFQHAIEKTHQSTLQVQQKAEAMLQ
3:55504434-55504434 G>A	0.0	4078	GASTRIC	-	-	-	-	WNT5A	uc003dhm.3,p.R262W|ENST00000264634,p.R277W|NM_001256105,p.R262W|uc010hmw.4,p.R262W|ENST00000474267,p.R277W|NM_003392,p.R277W|ENST00000497027,p.R262W|uc003dhn.4,p.R277W|uc010hmx.4,p.R188W	retained_intron, protein_coding, processed_transcript	uc010hmx.4	nonsynonymous SNV	exon5	c.C562T	p.R188W	ALKEKYDSAAAMRLNSRGKLVQVNS	ALKEKYDSAAAMWLNSRGKLVQVNS	5.0	3.0	-	-	4078_3:55504434-55504434 G>A_ALKEKYDSAAAMWLNSRGKLVQVNS
16:67195814-67195816 CGC>-	1.0	4078	GASTRIC	-	-	-	-	FBXL8	ENST00000521920,p.42_43del	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000521920	nonframeshift deletion	exon2	c.126_128del	p.42_43del	RVCRAWAAAATCSAVWHDTKIRFHP	RVCRAWAAAATCSVWHDTKIRFHPV	5.0	5.0	-	-	4078_16:67195814-67195816 CGC>-_RVCRAWAAAATCSVWHDTKIRFHPV
2:196834709-196834709 T>C	1.0	4078	GASTRIC	-	-	-	-	DNAH7	ENST00000312428,p.Q723R|NM_018897,p.Q723R|uc002utj.4,p.Q723R	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon17	c.A2168G	p.Q723R	DLQDVQRYLKKAQILNGKLDLAADK	DLQDVQRYLKKARILNGKLDLAADK	3.0	8.0	-	-	4078_2:196834709-196834709 T>C_DLQDVQRYLKKARILNGKLDLAADK
1:158724880-158724880 G>T	0.0	4078	GASTRIC	-	-	-	-	OR6K6	ENST00000368144,p.S92I|NM_001005184,p.S92I|uc001fsw.1,p.S92I	protein_coding	uc001fsw.1	nonsynonymous SNV	exon1	c.G275T	p.S92I	GMALHTPLYFFISVLSFLEICYTTT	GMALHTPLYFFIIVLSFLEICYTTT	1.0	1.0	unscreened	-	4078_1:158724880-158724880 G>T_GMALHTPLYFFIIVLSFLEICYTTT
20:42788852-42788852 G>A	0.0	4078	GASTRIC	-	-	-	-	JPH2	uc002xli.1,p.S192L|NM_020433,p.S192L|ENST00000372980,p.S192L	protein_coding	uc002xli.1	nonsynonymous SNV	exon2	c.C575T	p.S192L	PASPASDGPALPSPAIPRGGFALSL	PASPASDGPALPLPAIPRGGFALSL	4.0	8.0	-	-	4078_20:42788852-42788852 G>A_PASPASDGPALPLPAIPRGGFALSL
1:158669629-158669629 C>A	0.0	4078	GASTRIC	-	-	-	-	OR6K2	ENST00000359610,p.D272Y|uc001fsu.1,p.D272Y|NM_001005279,p.D272Y	protein_coding	uc001fsu.1	nonsynonymous SNV	exon1	c.G814T	p.D272Y	YLRFSATYSLFWDIAIALAFAVLSP	YLRFSATYSLFWYIAIALAFAVLSP	1.0	2.0	unscreened	-	4078_1:158669629-158669629 C>A_YLRFSATYSLFWYIAIALAFAVLSP
18:33706323-33706323 T>G	1.0	4078	GASTRIC	-	-	-	-	SLC39A6	ENST00000590986,p.K216N|uc010dmy.3,p.K216N|NM_012319,p.K216N|ENST00000269187,p.K216N	protein_coding	uc010dmy.3	nonsynonymous SNV	exon2	c.A648C	p.K216N	TIETPRPGKLFPKDVSSSTPPSVTS	TIETPRPGKLFPNDVSSSTPPSVTS	8.0	7.0	unscreened	-	4078_18:33706323-33706323 T>G_TIETPRPGKLFPNDVSSSTPPSVTS
16:67195814-67195816 CGC>-	1.0	4078	GASTRIC	-	-	-	-	FBXL8	ENST00000519945,p.42_43del	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000519945	nonframeshift deletion	exon2	c.126_128del	p.42_43del	RVCRAWAAAATCSAVWHDTKISQPS	RVCRAWAAAATCSVWHDTKISQPSP	5.0	5.0	-	-	4078_16:67195814-67195816 CGC>-_RVCRAWAAAATCSVWHDTKISQPSP
2:48982755-48982755 ->GCTGCA	0.0	4078	GASTRIC	-	-	-	-	LHCGR	ENST00000344775,p.P19delinsLQP|ENST00000294954,p.P19delinsLQP|ENST00000403273,p.P19delinsLQP|uc002rwu.4,p.P19delinsLQP|ENST00000602369,p.P19delinsLQP|NM_000233,p.P19delinsLQP|ENST00000401907,p.P19delinsLQP|ENST00000405626,p.P19delinsLQP	protein_coding, processed_transcript, nonsense_mediated_decay	uc002rwu.4	nonframeshift insertion	exon1	c.55_56insTGCAGC	p.P19delinsLQP	ALQLLKLLLLLQPPLPRALREALCP	ALQLLKLLLLLQLQPPLPRALREAL	1.0	10.0	unscreened	-	4078_2:48982755-48982755 ->GCTGCA_ALQLLKLLLLLQLQPPLPRALREAL
6:99729152-99729152 T>G	1.0	4078	GASTRIC	-	-	-	-	FAXC	NM_032511,p.E373A|uc003ppi.4,p.E93A|ENST00000538471,p.E93A|uc003ppj.4,p.E373A|ENST00000389677,p.E373A	protein_coding, processed_transcript	uc003ppj.4	nonsynonymous SNV	exon6	c.A1118C	p.E373A	FSFYSRTETFEDEGAENSFSRTPDT	FSFYSRTETFEDAGAENSFSRTPDT	5.0	6.0	-	-	4078_6:99729152-99729152 T>G_FSFYSRTETFEDAGAENSFSRTPDT
2:238280443-238280443 G>A	0.0	4078	GASTRIC	0.0023	-	-	-	COL6A3	uc010znj.1,p.T799M|ENST00000409809,p.T1200M|uc002vwq.3,p.T1200M|ENST00000353578,p.T1200M|ENST00000295550,p.T1406M|ENST00000347401,p.T1205M|NM_057166,p.T799M|ENST00000472056,p.T799M|ENST00000346358,p.T1206M|NM_004369,p.T1406M|ENST00000392003,p.T999M|uc002vwl.2,p.T1406M|uc002vwr.3,p.T999M|NM_057165,p.T1200M|ENST00000392004,p.T1200M|NM_057167,p.T1200M|NM_057164,p.T999M|uc002vwo.2,p.T1200M	retained_intron, protein_coding, processed_transcript	uc010znj.1	nonsynonymous SNV	exon6	c.C2396T	p.T799M	FRELPSLEQKLLTPITTLTSEQIQK	FRELPSLEQKLLMPITTLTSEQIQK	10.0	1.0	unscreened	-	4078_2:238280443-238280443 G>A_FRELPSLEQKLLMPITTLTSEQIQK
2:50850710-50850710 G>-	0.0	4078	GASTRIC	-	-	-	-	NRXN1	NM_004801,p.F292fs|ENST00000405472,p.F292fs|uc021vhg.1,p.F325fs|uc021vhi.1,p.F321fs|uc021vhj.1,p.F288fs|uc021vhh.1,p.F292fs|ENST00000406316,p.F292fs|ENST00000402717,p.F292fs|ENST00000406859,p.F292fs|NM_001135659,p.F325fs|ENST00000401669,p.F292fs|ENST00000404971,p.F325fs	retained_intron, protein_coding, processed_transcript	uc021vhj.1	frameshift deletion	exon5	c.864delC	p.F288fs	EEYIATFKGSEYFCYDLSQNPIQSS	EEYIATFKGSEYFATTCLKTPFKAAVMK	1.0	1.0	-	-	4078_2:50850710-50850710 G>-_EEYIATFKGSEYFATTCLKTPFKAAVMK
17:65955758-65955758 ->CCTCCAGCCCCTCCAGCC	0.0	4078	GASTRIC	-	-	-	-	BPTF	uc021uca.1,p.A476delinsAPPAPPA|NM_182641,p.A2676delinsAPPAPPA|ENST00000321892,p.A2802delinsAPPAPPA|uc002jgg.3,p.A333delinsAPPAPPA|uc002jge.3,p.A2659delinsAPPAPPA|ENST00000335221,p.A2659delinsAPPAPPA|ENST00000424123,p.A2520delinsAPPAPPA|uc002jgf.3,p.A2676delinsAPPAPPA|NM_004459,p.A2659delinsAPPAPPA|uc002jgh.3,p.A135delinsAPPAPPA|ENST00000306378,p.A2676delinsAPPAPPA	retained_intron, protein_coding, processed_transcript	uc021uca.1	nonframeshift insertion	exon5	c.1428_1429insCCTCCAGCCCCTCCAGCC	p.A476delinsAPPAPPA	TAVAAPCPPVTPAPPAPPAPPPSPP	TAVAAPCPPVTPAPPAPPAPPAPPA	10.0	9.0	unscreened	-	4078_17:65955758-65955758 ->CCTCCAGCCCCTCCAGCC_TAVAAPCPPVTPAPPAPPAPPAPPA
11:70319055-70319055 C>G	1.0	4078	GASTRIC	-	-	-	-	SHANK2	ENST00000424924,p.E1102D|ENST00000338508,p.E1824D|uc001opy.3,p.E159D|ENST00000449833,p.E1228D|ENST00000409161,p.E1227D|ENST00000423696,p.E1444D|uc001opz.3,p.E1228D|ENST00000294018,p.E1447D|NM_133266,p.E1235D	protein_coding, processed_transcript	uc001opz.3	nonsynonymous SNV	exon10	c.G3684C	p.E1228D	EIDGSHLPNLQKEDLIDLGVTRVGH	EIDGSHLPNLQKDDLIDLGVTRVGH	10.0	9.0	-	-	4078_11:70319055-70319055 C>G_EIDGSHLPNLQKDDLIDLGVTRVGH
1:155023306-155023306 T>G	1.0	4078	GASTRIC	-	-	-	-	DCST1	ENST00000295542,p.F695V|uc001fgn.2,p.F695V|NM_001143687,p.F670V|ENST00000423025,p.F670V|uc010pes.2,p.F670V|NM_152494,p.F695V	retained_intron, protein_coding, nonsense_mediated_decay	uc010pes.2	nonsynonymous SNV	exon16	c.T2008G	p.F670V	VCTPREELSSSAFSDSNDDTAYAG	VCTPREELSSSAVSDSNDDTAYAG	1.0	2.0	-	-	4078_1:155023306-155023306 T>G_VCTPREELSSSAVSDSNDDTAYAG
16:67195814-67195816 CGC>-	1.0	4078	GASTRIC	-	-	-	-	FBXL8	ENST00000517382,p.42_43del	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000517382	nonframeshift deletion	exon2	c.126_128del	p.42_43del	RVCRAWAAAATCSAVWHDTKIRRPT	RVCRAWAAAATCSVWHDTKIRRPTR	5.0	5.0	-	-	4078_16:67195814-67195816 CGC>-_RVCRAWAAAATCSVWHDTKIRRPTR
16:67195814-67195816 CGC>-	1.0	4078	GASTRIC	-	-	-	-	FBXL8	NM_018378,p.42_43del|ENST00000519378,p.42_43del|ENST00000258200,p.42_43del|ENST00000519917,p.42_43del|uc002erk.1,p.42_43del	protein_coding, processed_transcript, nonsense_mediated_decay	uc002erk.1	nonframeshift deletion	exon2	c.126_128del	p.42_43del	RVCRAWAAAATCSAVWHDTKISCEC	RVCRAWAAAATCSVWHDTKISCECE	5.0	5.0	-	-	4078_16:67195814-67195816 CGC>-_RVCRAWAAAATCSVWHDTKISCECE
5:135583361-135583361 C>T	0.0	4078	GASTRIC	-	-	-	-	TRPC7	uc010jeh.2,p.V487I|uc010jef.2,p.V484I|ENST00000426057,p.V432I|uc010jej.2,p.V99I|ENST00000355180,p.V487I|ENST00000513104,p.V548I|uc003lbn.2,p.V548I|uc010jei.2,p.V432I|NM_001167577,p.V487I|NM_001167576,p.V432I|NM_020389,p.V548I	retained_intron, protein_coding, nonsense_mediated_decay	uc010jej.2	nonsynonymous SNV	exon3	c.G295A	p.V99I	PQIISEGLYAIAVVLSFSRIAYILP	PQIISEGLYAIAIVLSFSRIAYILP	1.0	2.0	unscreened	-	4078_5:135583361-135583361 C>T_PQIISEGLYAIAIVLSFSRIAYILP
1:158724886-158724886 T>C	0.0	4078	GASTRIC	-	-	-	-	OR6K6	ENST00000368144,p.L94P|NM_001005184,p.L94P|uc001fsw.1,p.L94P	protein_coding	uc001fsw.1	nonsynonymous SNV	exon1	c.T281C	p.L94P	ALHTPLYFFISVLSFLEICYTTTTI	ALHTPLYFFISVPSFLEICYTTTTI	1.0	2.0	unscreened	-	4078_1:158724886-158724886 T>C_ALHTPLYFFISVPSFLEICYTTTTI
1:19181470-19181470 C>A	0.0	4078	GASTRIC	-	-	-	-	TAS1R2	uc001bba.1,p.S165I|ENST00000375371,p.S165I|NM_152232,p.S165I	protein_coding	uc001bba.1	nonsynonymous SNV	exon3	c.G494T	p.S165I	FLSLFLLPQITYSAISDELRDKVRF	FLSLFLLPQITYIAISDELRDKVRF	1.0	8.0	-	-	4078_1:19181470-19181470 C>A_FLSLFLLPQITYIAISDELRDKVRF
19:58868682-58868682 C>T	0.0	4078	GASTRIC	-	-	-	-	ZNF497	uc002qsj.1,p.P18L	protein_coding	uc002qsj.1	nonsynonymous SNV	exon1	c.C53T	p.P18L	RALAERLAALPAPAARLLWERRRAQ	RALAERLAALPALAARLLWERRRAQ	2.0	1.0	unscreened	-	4078_19:58868682-58868682 C>T_RALAERLAALPALAARLLWERRRAQ
17:7578272-7578272 G>T	1.0	4078	GASTRIC	-	-	ID=COSM3958822,COSM43935,COSM3958821,COSM3958823,COSM3958824,COSM3958825,COSM3958826;OCCURENCE=1(stomach),1(haematopoietic_and_lymphoid_tissue),2(lung),1(large_intestine),1(biliary_tract)	1	TP53	uc002gin.3,p.H100N|uc010cng.2,p.H34N|NM_001126118,p.H154N|NM_001276696,p.H154N|NM_001126113,p.H193N|NM_001126114,p.H193N|NM_001276695,p.H154N|ENST00000509690,p.H61N|NM_001126116,p.H61N|ENST00000455263,p.H193N|NM_001276699,p.H34N|NM_000546,p.H193N|ENST00000445888,p.H193N|uc002gig.1,p.H193N|uc002gij.3,p.H154N|NM_001276760,p.H154N|ENST00000413465,p.H193N|uc002gii.2,p.H34N|NM_001276761,p.H154N|uc002gio.3,p.H61N|ENST00000420246,p.H193N|ENST00000269305,p.H193N|NM_001276698,p.H34N|ENST00000359597,p.H193N|uc010vug.3,p.H154N|NM_001126117,p.H61N|uc010cnf.2,p.H34N|uc031qyq.1,p.H154N|uc002gih.3,p.H193N|NM_001126115,p.H61N|NM_001126112,p.H193N|NM_001276697,p.H34N|ENST00000514944,p.H100N	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon5	c.C460A	p.H154N	RCSDSDGLAPPQHLIRVEGNLRVEY	RCSDSDGLAPPQNLIRVEGNLRVEY	8.0	10.0	-	-	4078_17:7578272-7578272 G>T_RCSDSDGLAPPQNLIRVEGNLRVEY
11:5462491-5462491 G>C	0.0	4078	GASTRIC	-	-	-	-	OR51I1	uc010qze.2,p.S85C|ENST00000380211,p.S85C|NM_001005288,p.S85C	protein_coding	uc010qze.2	nonsynonymous SNV	exon1	c.C254G	p.S85C	LGVSFSTLPTVISTFCFNYNHVAFN	LGVSFSTLPTVICTFCFNYNHVAFN	1.0	6.0	-	-	4078_11:5462491-5462491 G>C_LGVSFSTLPTVICTFCFNYNHVAFN
2:26726655-26726655 C>T	0.0	4078	GASTRIC	-	-	-	-	OTOF	ENST00000272371,p.E190K|ENST00000403946,p.E190K|NM_194248,p.E190K|NM_001287489,p.E190K|uc002rhk.3,p.E190K	retained_intron, protein_coding	uc002rhk.3	nonsynonymous SNV	exon6	c.G568A	p.E190K	AMKLGKNRSHKEEPQRPDEPAVLEM	AMKLGKNRSHKEKPQRPDEPAVLEM	1.0	1.0	unscreened	-	4078_2:26726655-26726655 C>T_AMKLGKNRSHKEKPQRPDEPAVLEM
17:62080276-62080276 G>A	0.0	4078	GASTRIC	-	-	-	-	ICAM2	NM_001099787,p.S220L|uc010ded.3,p.S220L|NM_000873,p.S220L|ENST00000579788,p.S220L|NM_001099789,p.S220L|ENST00000578379,p.S119L|NM_001099786,p.S220L|uc002jdu.4,p.S220L|ENST00000418105,p.S220L|ENST00000578892,p.S196L|uc002jdv.4,p.S220L|uc002jdx.4,p.S220L|NM_001099788,p.S220L|ENST00000579687,p.S220L|uc002jdw.4,p.S220L|ENST00000449662,p.S220L|ENST00000412356,p.S220L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ded.3	nonsynonymous SNV	exon6	c.C659T	p.S220L	SAPKMLEIYEPVSDSQMVIIVTVVS	SAPKMLEIYEPVLDSQMVIIVTVVS	6.0	5.0	-	-	4078_17:62080276-62080276 G>A_SAPKMLEIYEPVLDSQMVIIVTVVS
22:46655528-46655528 C>T	0.0	4078	GASTRIC	-	-	-	-	PKDREJ	uc003bhh.3,p.C1231Y|ENST00000253255,p.C1231Y|NM_006071,p.C1231Y	protein_coding	uc003bhh.3	nonsynonymous SNV	exon1	c.G3692A	p.C1231Y	IVLPDNDPYDNLCYLVTIFTGSRWG	IVLPDNDPYDNLYYLVTIFTGSRWG	1.0	5.0	-	-	4078_22:46655528-46655528 C>T_IVLPDNDPYDNLYYLVTIFTGSRWG
10:50085167-50085167 A>C	0.0	4078	GASTRIC	-	-	-	-	WDFY4	ENST00000325239,p.S2364R|NM_020945,p.S2364R|uc001jha.4,p.S2364R	protein_coding, processed_transcript	uc001jha.4	nonsynonymous SNV	exon43	c.A7090C	p.S2364R	CTQLTFFPALHESLHSEDFLELCRE	CTQLTFFPALHERLHSEDFLELCRE	5.0	8.0	-	-	4078_10:50085167-50085167 A>C_CTQLTFFPALHERLHSEDFLELCRE
12:57389777-57389777 G>A	0.0	4078	GASTRIC	-	-	-	-	GPR182	ENST00000300098,p.A262T|uc021qzf.1,p.A262T|uc001smk.3,p.A262T|NM_007264,p.A262T	protein_coding	uc021qzf.1	nonsynonymous SNV	exon1	c.G784A	p.A262T	QPKSRRHCLLLCAYVAVFVMCWLPY	QPKSRRHCLLLCTYVAVFVMCWLPY	1.0	10.0	-	-	4078_12:57389777-57389777 G>A_QPKSRRHCLLLCTYVAVFVMCWLPY
10:15256479-15256479 C>A	1.0	4078	GASTRIC	-	-	-	-	FAM171A1	NM_001010924,p.A370S|uc001iob.3,p.A370S|ENST00000378116,p.A370S	protein_coding, processed_transcript	uc001iob.3	nonsynonymous SNV	exon8	c.G1108T	p.A370S	SMSHINLLFSRRASEFPGPLSVTSH	SMSHINLLFSRRSSEFPGPLSVTSH	5.0	1.0	-	-	4078_10:15256479-15256479 C>A_SMSHINLLFSRRSSEFPGPLSVTSH
12:50294951-50294951 G>A	0.0	4078	GASTRIC	-	-	ID=COSM300472;OCCURENCE=1(large_intestine)	-	FAIM2	ENST00000320634,p.A58V|ENST00000550635,p.A58V|NM_012306,p.A58V|uc001rvj.2,p.A58V|ENST00000550195,p.A58V	protein_coding, nonsense_mediated_decay	uc001rvj.2	nonsynonymous SNV	exon2	c.C173T	p.A58V	GMKAGAFPPAPTAVPLHPSWAYVDP	GMKAGAFPPAPTVVPLHPSWAYVDP	2.0	10.0	-	-	4078_12:50294951-50294951 G>A_GMKAGAFPPAPTVVPLHPSWAYVDP
16:20387497-20387497 C>T	0.0	4078	GASTRIC	-	-	ID=COSM968044;OCCURENCE=1(ovary),1(endometrium)	-	PDILT	NM_174924,p.V146I|ENST00000302451,p.V146I|uc002dhc.1,p.V146I	protein_coding	uc002dhc.1	nonsynonymous SNV	exon4	c.G436A	p.V146I	SCKGVVESAALVVWLRRQISQKAFL	SCKGVVESAALVIWLRRQISQKAFL	1.0	10.0	-	-	4078_16:20387497-20387497 C>T_SCKGVVESAALVIWLRRQISQKAFL
20:40770625-40770625 C>A	0.0	4078	GASTRIC	-	-	-	1	PTPRT	ENST00000373193,p.Q903H|ENST00000373184,p.Q890H|ENST00000373198,p.Q922H|uc010ggi.3,p.Q103H|ENST00000373187,p.Q900H|uc002xkg.3,p.Q900H|uc010ggj.3,p.Q919H|ENST00000356100,p.Q909H|ENST00000373201,p.Q890H|NM_007050,p.Q900H|NM_133170,p.Q919H|ENST00000373190,p.Q899H	protein_coding, processed_transcript	uc010ggj.3	nonsynonymous SNV	exon19	c.G2757T	p.Q919H	GFKEEYEALPEGQTASWDTAKEDEN	GFKEEYEALPEGHTASWDTAKEDEN	1.0	4.0	unscreened	-	4078_20:40770625-40770625 C>A_GFKEEYEALPEGHTASWDTAKEDEN
X:27766454-27766454 G>T	0.0	4078	GASTRIC	-	-	-	-	DCAF8L2	uc011mjy.2,p.R481M|ENST00000451261,p.R481M|NM_001136533,p.R481M	protein_coding, processed_transcript	uc011mjy.2	nonsynonymous SNV	exon1	c.G1442T	p.R481M	NTTVKGVNFYGPRSEFVVSGSDCGH	NTTVKGVNFYGPMSEFVVSGSDCGH	1.0	10.0	-	-	4078_X:27766454-27766454 G>T_NTTVKGVNFYGPMSEFVVSGSDCGH
6:42985382-42985382 G>T	1.0	4078	GASTRIC	-	-	-	-	KLHDC3	NM_057161,p.G94W|uc003otl.3,p.G94W|ENST00000326974,p.G94W	protein_coding	uc003otl.3	nonsynonymous SNV	exon3	c.G280T	p.G94W	TVLIDDTVLLWGGRNDTEGACNVLY	TVLIDDTVLLWGWRNDTEGACNVLY	7.0	1.0	unscreened	-	4078_6:42985382-42985382 G>T_TVLIDDTVLLWGWRNDTEGACNVLY
20:62493712-62493712 C>A	1.0	4078	GASTRIC	-	-	-	-	ABHD16B	NM_080622,p.D273E|uc002ygx.1,p.D273E|ENST00000369916,p.D273E	protein_coding	uc002ygx.1	nonsynonymous SNV	exon1	c.C819A	p.D273E	PELGALVLDATFDDLVPLALKVMPH	PELGALVLDATFEDLVPLALKVMPH	1.0	4.0	-	-	4078_20:62493712-62493712 C>A_PELGALVLDATFEDLVPLALKVMPH
X:111090487-111090487 T>C	0.0	4078	GASTRIC	-	-	-	-	TRPC5	NM_012471,p.K519E|ENST00000262839,p.K519E|uc004epm.1,p.K519E|uc004epl.1,p.K519E	protein_coding	uc004epm.1	nonsynonymous SNV	exon6	c.A1555G	p.K519E	QISLGRMLLDILKFLFIYCLVLLAF	QISLGRMLLDILEFLFIYCLVLLAF	1.0	6.0	-	-	4078_X:111090487-111090487 T>C_QISLGRMLLDILEFLFIYCLVLLAF
19:2934529-2934529 G>C	0.0	4078	GASTRIC	-	-	-	-	ZNF77	uc002lws.4,p.S199C|NM_021217,p.S199C|ENST00000314531,p.S199C	protein_coding, processed_transcript	uc002lws.4	nonsynonymous SNV	exon4	c.C596G	p.S199C	EKPCNCQDSRTASVTYVKSLSSKKS	EKPCNCQDSRTACVTYVKSLSSKKS	4.0	5.0	-	-	4078_19:2934529-2934529 G>C_EKPCNCQDSRTACVTYVKSLSSKKS
12:48367221-48367221 C>G	0.0	4078	GASTRIC	-	-	-	1	COL2A1	NM_033150,p.G1409A|uc001rqu.3,p.G1478A|ENST00000337299,p.G1409A|uc001rqt.3,p.G259A|uc001rqv.3,p.G1409A|NM_001844,p.G1478A|ENST00000380518,p.G1478A	retained_intron, protein_coding, processed_transcript	uc001rqv.3	nonsynonymous SNV	exon53	c.G4226C	p.G1409A	APMDIGGPEQEFGVDIGPVCFL	APMDIGGPEQEFAVDIGPVCFL	1.0	6.0	-	-	4078_12:48367221-48367221 C>G_APMDIGGPEQEFAVDIGPVCFL
12:6167116-6167116 T>C	0.0	4078	GASTRIC	-	-	-	-	VWF	NM_000552,p.E543G|uc010set.1,p.E543G|uc001qnn.1,p.E543G|ENST00000261405,p.E543G	protein_coding, processed_transcript, nonsense_mediated_decay	uc010set.1	nonsynonymous SNV	exon14	c.A1628G	p.E543G	QGDDFLTPSGLAEPRVEDFGNAWKL	QGDDFLTPSGLAGPRVEDFGNAWKL	6.0	9.0	-	-	4078_12:6167116-6167116 T>C_QGDDFLTPSGLAGPRVEDFGNAWKL
3:119449084-119449084 T>C	0.0	4078	GASTRIC	-	-	-	-	MAATS1	uc011bjd.2,p.L167P|uc010hra.2,p.L54P|NM_033364,p.L293P|ENST00000273390,p.L293P|uc011bje.2,p.L273P|uc010hqz.3,p.L231P|uc003ede.4,p.L293P|uc010hqy.2,p.L293P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bje.2	nonsynonymous SNV	exon8	c.T818C	p.L273P	REQEIEKLQEIRLEVLKELLRKREE	REQEIEKLQEIRPEVLKELLRKREE	3.0	3.0	unscreened	-	4078_3:119449084-119449084 T>C_REQEIEKLQEIRPEVLKELLRKREE
11:55944723-55944724 CT>-	0.0	4078	GASTRIC	-	-	-	-	OR5J2	uc010rjb.2,p.T210fs|NM_001005492,p.T210fs|ENST00000312298,p.T210fs	protein_coding	uc010rjb.2	frameshift deletion	exon1	c.630_631del	p.T210fs	LLLTFSGVIAMATFLTVIISYIFIA	LLLTFSGVIAMATLDCDHFLHLHCFC	1.0	3.0	unscreened	-	4078_11:55944723-55944724 CT>-_LLLTFSGVIAMATLDCDHFLHLHCFC
13:33680924-33680924 T>G	0.0	4078	GASTRIC	-	-	-	-	STARD13	NM_052851,p.R947S|uc001uuv.3,p.R947S|ENST00000255486,p.R1057S|uc001uuw.3,p.R1065S|NM_178006,p.R1065S|NM_178007,p.R1057S|uc001uuu.3,p.R1057S|ENST00000336934,p.R1065S|NM_001243476,p.R1030S|uc001uux.3,p.R1030S|ENST00000399365,p.R947S	protein_coding, processed_transcript	uc001uux.3	nonsynonymous SNV	exon17	c.A3090C	p.R1030S	QYLIEPCGSGKSRLTHICRIDLKGH	QYLIEPCGSGKSSLTHICRIDLKGH	7.0	6.0	-	-	4078_13:33680924-33680924 T>G_QYLIEPCGSGKSSLTHICRIDLKGH
11:36614963-36614963 C>G	0.0	4078	GASTRIC	-	-	-	-	RAG2	NM_001243785,p.L252F|ENST00000311485,p.L252F|uc021qge.1,p.L252F|uc021qgc.1,p.L252F|NM_001243786,p.L252F|NM_000536,p.L252F|uc021qgd.1,p.L252F|uc001mwv.4,p.L252F	protein_coding, processed_transcript	uc021qge.1	nonsynonymous SNV	exon1	c.G756C	p.L252F	LPLGSPAVNCTVLPGGISVSSAILT	LPLGSPAVNCTVFPGGISVSSAILT	1.0	6.0	-	-	4078_11:36614963-36614963 C>G_LPLGSPAVNCTVFPGGISVSSAILT
19:21719158-21719158 G>C	0.0	4078	GASTRIC	-	-	-	2	ZNF429	NM_001001415,p.R101S|uc002nqd.1,p.R101S|ENST00000358491,p.R101S	protein_coding, processed_transcript	uc002nqd.1	nonsynonymous SNV	exon4	c.G303C	p.R101S	QDIKDSFQKVTLRRYDKRGHENLQL	QDIKDSFQKVTLSRYDKRGHENLQL	5.0	2.0	unscreened	-	4078_19:21719158-21719158 G>C_QDIKDSFQKVTLSRYDKRGHENLQL
5:140626743-140626743 G>A	0.0	4078	GASTRIC	-	-	-	-	PCDHB15	NM_018935,p.A533T|ENST00000231173,p.A533T|uc003lje.3,p.A533T	protein_coding	uc003lje.3	nonsynonymous SNV	exon1	c.G1597A	p.A533T	YEALQAFEFRVGATDRGFPALSSEA	YEALQAFEFRVGTTDRGFPALSSEA	3.0	10.0	-	-	4078_5:140626743-140626743 G>A_YEALQAFEFRVGTTDRGFPALSSEA
1:158669630-158669630 C>A	0.0	4078	GASTRIC	-	-	-	-	OR6K2	uc001fsu.1,p.W271C|ENST00000359610,p.W271C|NM_001005279,p.W271C	protein_coding	uc001fsu.1	nonsynonymous SNV	exon1	c.G813T	p.W271C	MYLRFSATYSLFWDIAIALAFAVLS	MYLRFSATYSLFCDIAIALAFAVLS	1.0	3.0	-	-	4078_1:158669630-158669630 C>A_MYLRFSATYSLFCDIAIALAFAVLS
X:151336822-151336822 T>G	0.0	4078	GASTRIC	-	-	ID=COSM611573;OCCURENCE=1(lung)	-	GABRA3	ENST00000535043,p.S453R|NM_000808,p.S453R|ENST00000370311,p.S453R|uc010ntk.1,p.S453R|ENST00000370314,p.S453R	protein_coding, processed_transcript	uc010ntk.1	nonsynonymous SNV	exon10	c.A1357C	p.S453R	DSPTETKTYNSVSKVDKISRIIFPV	DSPTETKTYNSVRKVDKISRIIFPV	1.0	10.0	-	-	4078_X:151336822-151336822 T>G_DSPTETKTYNSVRKVDKISRIIFPV
3:113045350-113045350 C>A	0.0	4078	GASTRIC	-	-	-	-	CFAP44	uc003ead.2,p.M1486I|ENST00000393845,p.M1486I|ENST00000308346,p.M89I|NM_001164496,p.M1486I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ead.2	nonsynonymous SNV	exon28	c.G4458T	p.M1486I	AIGENNKFANFLMKVLKKKIKRVKK	AIGENNKFANFLIKVLKKKIKRVKK	5.0	1.0	unscreened	-	4078_3:113045350-113045350 C>A_AIGENNKFANFLIKVLKKKIKRVKK
7:151711835-151711835 A>G	0.0	4078	GASTRIC	-	-	-	-	GALNTL5	uc010lqf.3,p.H267R|ENST00000392800,p.H378R|uc003wkp.3,p.H378R|uc003wkq.3,p.H129R|ENST00000431418,p.H378R|NM_145292,p.H378R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lqf.3	nonsynonymous SNV	exon9	c.A800G	p.H267R	TGKPSTIISAMTHNYLRLVHVWLDE	TGKPSTIISAMTRNYLRLVHVWLDE	1.0	4.0	-	-	4078_7:151711835-151711835 A>G_TGKPSTIISAMTRNYLRLVHVWLDE
11:65635345-65635345 T>C	0.0	4078	GASTRIC	-	-	-	-	EFEMP2	ENST00000526911,p.D45G|ENST00000530806,p.D39G|ENST00000531972,p.D386G|NM_016938,p.D386G|uc001ofy.4,p.D386G|ENST00000307998,p.D386G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ofy.4	nonsynonymous SNV	exon10	c.A1157G	p.D386G	NAFQIRAGNSQGDFYIRQINNVSAM	NAFQIRAGNSQGGFYIRQINNVSAM	9.0	2.0	unscreened	-	4078_11:65635345-65635345 T>C_NAFQIRAGNSQGGFYIRQINNVSAM
2:39964067-39964067 ->T	1.0	4078	GASTRIC	-	-	-	-	THUMPD2	uc002rru.2,p.K440fs|ENST00000505747,p.K440fs|ENST00000260619,p.K410fs|uc010ynt.1,p.K331fs|NM_025264,p.K440fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ynt.1	frameshift insertion	exon10	c.992dupA	p.K331fs	SKDSHTDEPGIKKCLNPEEKTGAFK	SKDSHTDEPGIKKVLES	8.0	1.0	-	-	4078_2:39964067-39964067 ->T_SKDSHTDEPGIKKVLES
1:200956224-200956224 C>T	0.0	4078	GASTRIC	-	-	-	-	KIF21B	uc009wzl.2,p.V1172I|ENST00000360529,p.V1172I|uc001gvr.2,p.V1172I|NM_001252102,p.V1172I|ENST00000461742,p.V1172I|NM_017596,p.V1172I|uc001gvs.2,p.V1172I|NM_001252103,p.V1172I|ENST00000422435,p.V1172I|ENST00000332129,p.V1172I|NM_001252100,p.V1172I|uc010ppn.2,p.V1172I	retained_intron, protein_coding, nonsense_mediated_decay	uc010ppn.2	nonsynonymous SNV	exon25	c.G3514A	p.V1172I	STKNITKSLASLVEIKEDGVGFSVR	STKNITKSLASLIEIKEDGVGFSVR	4.0	7.0	-	-	4078_1:200956224-200956224 C>T_STKNITKSLASLIEIKEDGVGFSVR
3:165548665-165548665 C>A	0.0	4078	GASTRIC	-	-	-	-	BCHE	ENST00000264381,p.V53L|ENST00000482958,p.V53L|NM_000055,p.V53L|ENST00000497011,p.V53L|uc003fem.4,p.V53L	protein_coding, nonsense_mediated_decay	uc003fem.4	nonsynonymous SNV	exon2	c.G157T	p.V53L	VRGMNLTVFGGTVTAFLGIPYAQPP	VRGMNLTVFGGTLTAFLGIPYAQPP	2.0	3.0	unscreened	-	4078_3:165548665-165548665 C>A_VRGMNLTVFGGTLTAFLGIPYAQPP
3:165548667-165548667 G>C	0.0	4078	GASTRIC	-	-	-	-	BCHE	uc003fem.4,p.T52R|ENST00000264381,p.T52R|NM_000055,p.T52R|ENST00000497011,p.T52R|ENST00000482958,p.T52R	protein_coding, nonsense_mediated_decay	uc003fem.4	nonsynonymous SNV	exon2	c.C155G	p.T52R	KVRGMNLTVFGGTVTAFLGIPYAQP	KVRGMNLTVFGGRVTAFLGIPYAQP	2.0	4.0	unscreened	-	4078_3:165548667-165548667 G>C_KVRGMNLTVFGGRVTAFLGIPYAQP
2:85777099-85777099 A>T	1.0	4078	GASTRIC	-	-	-	-	GGCX	ENST00000233838,p.N745K|uc002sps.3,p.N745K|uc010yss.2,p.N561K|NM_000821,p.N745K|ENST00000430215,p.N688K|uc010yst.2,p.N688K|NM_001142269,p.N688K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010yst.2	nonsynonymous SNV	exon14	c.T2064A	p.N688K	ELNPSNTDSSHSNPPESNPDPVHSE	ELNPSNTDSSHSKPPESNPDPVHSE	7.0	9.0	-	-	4078_2:85777099-85777099 A>T_ELNPSNTDSSHSKPPESNPDPVHSE
11:65635345-65635345 T>C	0.0	4078	GASTRIC	-	-	-	-	EFEMP2	ENST00000528176,p.D386G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000528176	nonsynonymous SNV	exon10	c.A1157G	p.D386G	NAFQIRAGNSQGDFYIRAQGPPLTG	NAFQIRAGNSQGGFYIRAQGPPLTG	9.0	2.0	unscreened	-	4078_11:65635345-65635345 T>C_NAFQIRAGNSQGGFYIRAQGPPLTG
16:25704453-25704453 A>G	0.0	4078	GASTRIC	-	-	-	-	HS3ST4	uc002dof.3,p.K239E|NM_006040,p.K239E|ENST00000331351,p.K239E	protein_coding, processed_transcript	uc002dof.3	nonsynonymous SNV	exon1	c.A715G	p.K239E	GVEPHFFDRNYEKGLEWYRNVMPKT	GVEPHFFDRNYEEGLEWYRNVMPKT	1.0	6.0	-	-	4078_16:25704453-25704453 A>G_GVEPHFFDRNYEEGLEWYRNVMPKT
9:136314989-136314989 G>A	0.0	4078	GASTRIC	-	-	-	-	ADAMTS13	NM_139026,p.E952K|uc004cdp.4,p.E210K|uc004cdw.4,p.E983K|ENST00000371929,p.E983K|uc004cdu.1,p.E952K|ENST00000356589,p.E952K|uc004cdv.4,p.E983K|NM_139025,p.E983K|NM_139027,p.E983K|ENST00000355699,p.E983K|uc004cdt.1,p.E983K|uc004cdz.4,p.E653K|uc004cdx.4,p.E952K	protein_coding, processed_transcript, nonsense_mediated_decay	uc004cdz.4	nonsynonymous SNV	exon16	c.G1957A	p.E653K	VRRILYCARAHGEDDGEEILLDTQC	VRRILYCARAHGKDDGEEILLDTQC	3.0	10.0	-	-	4078_9:136314989-136314989 G>A_VRRILYCARAHGKDDGEEILLDTQC
X:41333433-41333433 G>T	0.0	4078	GASTRIC	-	-	-	-	NYX	uc004dfh.2,p.A243S|ENST00000342595,p.A243S|ENST00000378220,p.A243S|NM_022567,p.A243S|uc011mku.1,p.A243S	protein_coding, processed_transcript	uc011mku.1	nonsynonymous SNV	exon3	c.G727T	p.A243S	VLEHLLLNDNLLAELPADAFRGLRR	VLEHLLLNDNLLSELPADAFRGLRR	1.0	7.0	-	-	4078_X:41333433-41333433 G>T_VLEHLLLNDNLLSELPADAFRGLRR
11:65635345-65635345 T>C	0.0	4078	GASTRIC	-	-	-	-	EFEMP2	ENST00000531645,p.D102G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000531645	nonsynonymous SNV	exon2	c.A305G	p.D102G	NAFQIRAGNSQGDFYIRGPTPSEEQ	NAFQIRAGNSQGGFYIRGPTPSEEQ	9.0	2.0	unscreened	-	4078_11:65635345-65635345 T>C_NAFQIRAGNSQGGFYIRGPTPSEEQ
6:72678732-72678732 A>G	0.0	4078	GASTRIC	-	-	ID=COSM241418;OCCURENCE=1(prostate),1(large_intestine)	-	RIMS1	ENST00000521978,p.R71G|ENST00000348717,p.R71G|ENST00000518273,p.R71G|ENST00000520567,p.R71G|NM_014989,p.R71G|ENST00000517960,p.R71G|ENST00000522291,p.R71G|uc003pga.4,p.R71G|ENST00000264839,p.R71G|ENST00000491071,p.R71G	retained_intron, protein_coding, processed_transcript	uc003pga.4	nonsynonymous SNV	exon2	c.A211G	p.R71G	RDMAKPAACKTPRNAENQPHQPSPR	RDMAKPAACKTPGNAENQPHQPSPR	1.0	9.0	-	-	4078_6:72678732-72678732 A>G_RDMAKPAACKTPGNAENQPHQPSPR
10:1405363-1405363 C>A	0.0	4078	GASTRIC	-	-	-	-	ADARB2	uc009xhq.3,p.D313Y|ENST00000381312,p.D313Y|NM_018702,p.D313Y	protein_coding, processed_transcript	uc009xhq.3	nonsynonymous SNV	exon3	c.G937T	p.D313Y	RRARSFVMAVSVDGRTFEGSGRSKK	RRARSFVMAVSVYGRTFEGSGRSKK	1.0	2.0	unscreened	-	4078_10:1405363-1405363 C>A_RRARSFVMAVSVYGRTFEGSGRSKK
10:115410247-115410247 T>G	0.0	4078	GASTRIC	-	-	-	-	NRAP	uc001laj.4,p.I245L|uc001lal.4,p.I245L|ENST00000369360,p.I245L|ENST00000360478,p.I245L|ENST00000369358,p.I245L|uc001lak.4,p.I245L|NM_198060,p.I245L|ENST00000359988,p.I245L|NM_006175,p.I245L|NM_001261463,p.I245L	protein_coding	uc001lal.4	nonsynonymous SNV	exon8	c.A733C	p.I245L	EQQRGKGSFPAMITPAYQIAKRANE	EQQRGKGSFPAMLTPAYQIAKRANE	1.0	3.0	-	-	4078_10:115410247-115410247 T>G_EQQRGKGSFPAMLTPAYQIAKRANE
7:43918638-43918638 C>T	1.0	4078	GASTRIC	-	-	-	-	URGCP	uc011kbj.2,p.A99T|ENST00000402306,p.A133T|uc003tix.3,p.A133T|NM_001290075,p.A99T|ENST00000455877,p.A99T|ENST00000443736,p.A99T|ENST00000426198,p.A99T|ENST00000223341,p.A99T|NM_001077663,p.A142T|uc003tiw.3,p.A142T|ENST00000453200,p.A142T|ENST00000336086,p.A99T|NM_001290076,p.A99T|NM_001077664,p.A99T|uc003tiv.3,p.A67T|NM_017920,p.A133T|uc003tiu.3,p.A99T|uc003tiz.3,p.A99T|ENST00000447717,p.A99T|uc003tiy.3,p.A99T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kbj.2	nonsynonymous SNV	exon7	c.G295A	p.A99T	RNTTMVLDVLPDARPVEKESQMEEE	RNTTMVLDVLPDTRPVEKESQMEEE	8.0	2.0	-	-	4078_7:43918638-43918638 C>T_RNTTMVLDVLPDTRPVEKESQMEEE
4:107249399-107249399 A>T	1.0	4078	GASTRIC	-	-	-	-	AIMP1	NM_001142416,p.K154N|uc003hyg.3,p.K130N|NM_001142415,p.K130N|ENST00000358008,p.K130N|uc003hyh.3,p.K154N|uc011cfg.2,p.K130N|ENST00000394701,p.K154N|ENST00000442366,p.K130N|NM_004757,p.K130N|ENST00000510207,p.K130N	protein_coding	uc011cfg.2	nonsynonymous SNV	exon4	c.A390T	p.K130N	GDEKKAKEKIEKKGEKKEKKQQSIA	GDEKKAKEKIEKNGEKKEKKQQSIA	7.0	8.0	-	-	4078_4:107249399-107249399 A>T_GDEKKAKEKIEKNGEKKEKKQQSIA
1:196977674-196977674 G>A	0.0	4078	GASTRIC	-	-	-	-	CFHR5	ENST00000367414,p.R548K|uc001gts.4,p.R524K|NM_030787,p.R524K|ENST00000256785,p.R524K	protein_coding	uc001gts.4	nonsynonymous SNV	exon10	c.G1571A	p.R524K	ENMNKNNIQLKWRNDGKLYAKTGDA	ENMNKNNIQLKWKNDGKLYAKTGDA	1.0	1.0	unscreened	-	4078_1:196977674-196977674 G>A_ENMNKNNIQLKWKNDGKLYAKTGDA
19:58868682-58868682 C>T	0.0	4078	GASTRIC	-	-	-	-	ZNF497	uc021vcw.1,p.R107Q|ENST00000311044,p.R107Q|NM_198458,p.R107Q|NM_001207009,p.R107Q|uc002qsi.2,p.R107Q|uc002qsh.2,p.R107Q|ENST00000425453,p.R107Q	protein_coding	uc021vcw.1	nonsynonymous SNV	exon1	c.G320A	p.R107Q	LRPSPLPEEPGCRCGECGKAFSQGS	LRPSPLPEEPGCQCGECGKAFSQGS	2.0	1.0	unscreened	-	4078_19:58868682-58868682 C>T_LRPSPLPEEPGCQCGECGKAFSQGS
9:86258461-86258461 G>C	0.0	4078	GASTRIC	-	-	-	-	IDNK	ENST00000530832,p.K64N|ENST00000376419,p.K110N|ENST00000454393,p.K153N|uc004amu.3,p.K110N|NM_001256915,p.K64N|uc031tef.1,p.K64N|ENST00000277124,p.K64N|uc010mpv.3,p.K64N|NM_001001551,p.K110N	protein_coding, nonsense_mediated_decay	uc031tef.1	nonsynonymous SNV	exon5	c.G192C	p.K64N	KDGVALKCEESGKEAKQAEMQLLVV	KDGVALKCEESGNEAKQAEMQLLVV	5.0	9.0	-	-	4078_9:86258461-86258461 G>C_KDGVALKCEESGNEAKQAEMQLLVV
19:59025437-59025437 G>A	0.0	4078	GASTRIC	-	-	-	-	ZBTB45	uc002qtf.3,p.A507V|ENST00000600990,p.A507V|ENST00000594051,p.A507V|ENST00000354590,p.A507V|NM_032792,p.A507V|uc002qtd.3,p.A507V	protein_coding	uc002qtf.3	nonsynonymous SNV	exon3	c.C1520T	p.A507V	FSHRALLERHLAAHPAP	FSHRALLERHLAVHPAP	5.0	8.0	-	-	4078_19:59025437-59025437 G>A_FSHRALLERHLAVHPAP
2:21231615-21231615 G>T	0.0	4078	GASTRIC	-	-	-	-	APOB	NM_000384,p.P2709T|ENST00000233242,p.P2709T|uc002red.3,p.P2709T	protein_coding	uc002red.3	nonsynonymous SNV	exon26	c.C8125A	p.P2709T	KVEDIPLARITLPDFRLPEIAIPEF	KVEDIPLARITLTDFRLPEIAIPEF	1.0	4.0	-	-	4078_2:21231615-21231615 G>T_KVEDIPLARITLTDFRLPEIAIPEF
1:182443558-182443558 A>G	0.0	4078	GASTRIC	-	-	-	-	RGSL1	NM_001137669,p.N438D|uc021pfx.1,p.N473D|ENST00000294854,p.N438D|ENST00000542961,p.N473D|uc009wxw.3,p.N438D|ENST00000443996,p.N473D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pfx.1	nonsynonymous SNV	exon7	c.A1417G	p.N473D	HLLGDRICELYLNEQIGPCLPLKSQ	HLLGDRICELYLDEQIGPCLPLKSQ	1.0	6.0	-	-	4078_1:182443558-182443558 A>G_HLLGDRICELYLDEQIGPCLPLKSQ
7:71488673-71488673 A>G	0.0	4078	GASTRIC	-	-	ID=COSM1247265,COSM1247264;OCCURENCE=1(oesophagus)	-	CALN1	ENST00000329008,p.L115P|uc003twb.4,p.L157P|ENST00000405452,p.L115P|ENST00000412588,p.L157P|NM_001017440,p.L115P|ENST00000395276,p.L115P|uc003twc.4,p.L115P|ENST00000431984,p.L115P|NM_031468,p.L157P|ENST00000395275,p.L157P|uc003twa.4,p.L115P	protein_coding, nonsense_mediated_decay	uc003twc.4	nonsynonymous SNV	exon5	c.T344C	p.L115P	PKLVSSEGRDGFLGNTIDSIFWQFD	PKLVSSEGRDGFPGNTIDSIFWQFD	1.0	4.0	unscreened	-	4078_7:71488673-71488673 A>G_PKLVSSEGRDGFPGNTIDSIFWQFD
8:69005888-69005888 G>T	0.0	4078	GASTRIC	-	-	-	1	PREX2	ENST00000288368,p.D767Y|uc011lez.1,p.D702Y|NM_024870,p.D767Y|NM_025170,p.D767Y|uc003xxv.1,p.D767Y|uc003xxu.1,p.D767Y	protein_coding, processed_transcript	uc011lez.1	nonsynonymous SNV	exon19	c.G2104T	p.D702Y	QWVYNSIESAQEDLQKSHSKPPGDE	QWVYNSIESAQEYLQKSHSKPPGDE	4.0	8.0	-	-	4078_8:69005888-69005888 G>T_QWVYNSIESAQEYLQKSHSKPPGDE
8:73480273-73480273 T>G	0.0	4078	GASTRIC	-	-	-	-	KCNB2	ENST00000523207,p.F102V|uc003xzb.3,p.F102V|NM_004770,p.F102V	protein_coding	uc003xzb.3	nonsynonymous SNV	exon2	c.T304G	p.F102V	DRHPGAFTSILNFYRTGKLHMMEEM	DRHPGAFTSILNVYRTGKLHMMEEM	1.0	3.0	-	-	4078_8:73480273-73480273 T>G_DRHPGAFTSILNVYRTGKLHMMEEM
18:6171859-6171859 T>C	0.0	4078	GASTRIC	-	-	-	-	L3MBTL4	uc002kmy.4,p.D355G|uc002kmz.4,p.D355G|ENST00000535782,p.D168G|NM_173464,p.D355G|uc010dkt.3,p.D355G|ENST00000317931,p.D355G|ENST00000400105,p.D355G|ENST00000400104,p.D355G|ENST00000284898,p.D355G	protein_coding, processed_transcript	uc010dkt.3	nonsynonymous SNV	exon13	c.A1064G	p.D355G	ADSPDIHPIGWCDVTGHPLEVPQRT	ADSPDIHPIGWCGVTGHPLEVPQRT	4.0	3.0	-	-	4078_18:6171859-6171859 T>C_ADSPDIHPIGWCGVTGHPLEVPQRT
2:152394698-152394698 G>C	0.0	4078	GASTRIC	-	-	-	-	NEB	ENST00000409198,p.L5284V|ENST00000397345,p.L6985V|uc021vrc.1,p.L6985V|ENST00000604864,p.L6985V|uc021vrd.1,p.L5284V|uc021vrb.1,p.L5284V|uc002txr.3,p.L1750V|ENST00000413693,p.L1715V|ENST00000603639,p.L6985V|NM_001164508,p.L6985V|ENST00000172853,p.L5284V|ENST00000420924,p.L73V|NM_001164507,p.L6985V|uc031rpp.1,p.L6985V|uc002txu.3,p.L6985V|NM_001271208,p.L6985V|ENST00000427231,p.L6985V	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon139	c.C20953G	p.L6985V	KTKGKYHTVKDALDIVYHRKVTDDI	KTKGKYHTVKDAVDIVYHRKVTDDI	3.0	3.0	unscreened	-	4078_2:152394698-152394698 G>C_KTKGKYHTVKDAVDIVYHRKVTDDI
7:38835075-38835075 G>T	1.0	4078	GASTRIC	-	-	-	-	VPS41	NM_014396,p.T236N|uc003tgy.3,p.T236N|ENST00000310301,p.T236N|NM_080631,p.T211N|ENST00000395969,p.T211N|uc003tgz.3,p.T211N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003tgz.3	nonsynonymous SNV	exon8	c.C632A	p.T211N	WKDNVTLIIGWGTSVKVCSVKERHA	WKDNVTLIIGWGNSVKVCSVKERHA	7.0	7.0	-	-	4078_7:38835075-38835075 G>T_WKDNVTLIIGWGNSVKVCSVKERHA
5:45696086-45696086 T>C	0.0	4078	GASTRIC	-	-	-	-	HCN1	NM_021072,p.K37R|ENST00000303230,p.K37R|uc003jok.3,p.K37R	protein_coding	uc003jok.3	nonsynonymous SNV	exon1	c.A110G	p.K37R	ASATGAGPAAAEKRLGTPPGGGGAG	ASATGAGPAAAERRLGTPPGGGGAG	1.0	6.0	-	-	4078_5:45696086-45696086 T>C_ASATGAGPAAAERRLGTPPGGGGAG
15:79382744-79382744 T>A	0.0	4078	GASTRIC	-	-	-	-	RASGRF1	uc002beq.3,p.S33C|uc002bep.3,p.S33C|NM_002891,p.S33C|NM_001145648,p.S33C|ENST00000419573,p.S33C|ENST00000558480,p.S33C|uc002ber.4,p.S33C	retained_intron, protein_coding, processed_transcript, TEC	uc002ber.4	nonsynonymous SNV	exon1	c.A97T	p.S33C	KDGTRKGYLSKRSSDNTKWQTKWFA	KDGTRKGYLSKRCSDNTKWQTKWFA	4.0	2.0	-	-	4078_15:79382744-79382744 T>A_KDGTRKGYLSKRCSDNTKWQTKWFA
9:111617967-111617967 G>A	0.0	4078	GASTRIC	-	-	-	-	ACTL7B	uc004bdi.3,p.R82C|NM_006686,p.R82C|ENST00000374667,p.R82C	protein_coding	uc004bdi.3	nonsynonymous SNV	exon1	c.C244T	p.R82C	RPTYFISSTVGKRCPEAADAGDTRK	RPTYFISSTVGKCCPEAADAGDTRK	1.0	9.0	-	-	4078_9:111617967-111617967 G>A_RPTYFISSTVGKCCPEAADAGDTRK
6:10803953-10803953 T>G	0.0	4078	GASTRIC	-	-	-	-	MAK	uc003mzm.3,p.K221N|ENST00000474039,p.K221N|ENST00000538030,p.K221N|uc021yll.1,p.K221N|ENST00000313243,p.K221N|NM_005906,p.K221N|ENST00000354489,p.K221N|uc021ylk.1,p.K221N|ENST00000536370,p.K221N|NM_001242957,p.K221N|NM_001242385,p.K221N	protein_coding, processed_transcript	uc021yll.1	nonsynonymous SNV	exon7	c.A663C	p.K221N	IFKICQVLGTPKKSDWPEGYQLASS	IFKICQVLGTPKNSDWPEGYQLASS	1.0	8.0	-	-	4078_6:10803953-10803953 T>G_IFKICQVLGTPKNSDWPEGYQLASS
8:24771634-24771634 G>A	0.0	4078	GASTRIC	-	-	-	-	NEFM	uc003xed.4,p.D110N|NM_005382,p.D110N|uc011lac.1,p.D110N|ENST00000221166,p.D110N|ENST00000518131,p.D110N|ENST00000437366,p.D110N	protein_coding, processed_transcript	uc011lac.1	nonsynonymous SNV	exon1	c.G328A	p.D110N	RSNEKEQLQGLNDRFAGYIEKVHYL	RSNEKEQLQGLNNRFAGYIEKVHYL	1.0	7.0	-	-	4078_8:24771634-24771634 G>A_RSNEKEQLQGLNNRFAGYIEKVHYL
12:48367313-48367313 C>G	0.0	4078	GASTRIC	-	-	-	1	COL2A1	ENST00000337299,p.K1378N|uc001rqv.3,p.K1378N|uc001rqu.3,p.K1447N|ENST00000380518,p.K1447N|NM_033150,p.K1378N|uc001rqt.3,p.K228N|NM_001844,p.K1447N	retained_intron, protein_coding, processed_transcript	uc001rqv.3	nonsynonymous SNV	exon53	c.G4134C	p.K1378N	KDGCTKHTGKWGKTVIEYRSQKTSR	KDGCTKHTGKWGNTVIEYRSQKTSR	1.0	4.0	unscreened	-	4078_12:48367313-48367313 C>G_KDGCTKHTGKWGNTVIEYRSQKTSR
11:75694431-75694431 A>-	1.0	4078	GASTRIC	-	-	-	-	UVRAG	NM_003369,p.K234fs|ENST00000356136,p.K234fs|ENST00000528420,p.K133fs|uc010rrw.2,p.K133fs|uc001oxc.3,p.K234fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rrw.2	frameshift deletion	exon8	c.397delA	p.K133fs	EKLRLTSTSNELKKKSECLQLKILV	EKLRLTSTSNELKKKVNACS	9.0	9.0	unscreened	-	4078_11:75694431-75694431 A>-_EKLRLTSTSNELKKKVNACS
7:88963940-88963940 C>G	0.0	4078	GASTRIC	-	-	-	-	ZNF804B	uc011khi.2,p.F548L|ENST00000333190,p.F548L|NM_181646,p.F548L	protein_coding	uc011khi.2	nonsynonymous SNV	exon4	c.C1644G	p.F548L	PKTMIANPDWEKFQRKYNLDYSDSE	PKTMIANPDWEKLQRKYNLDYSDSE	1.0	2.0	-	-	4078_7:88963940-88963940 C>G_PKTMIANPDWEKLQRKYNLDYSDSE
5:150924608-150924608 G>A	0.0	4078	GASTRIC	-	-	-	-	FAT2	ENST00000261800,p.A2027V|NM_001447,p.A2027V|uc003lue.4,p.A2027V	protein_coding	uc003lue.4	nonsynonymous SNV	exon9	c.C6080T	p.A2027V	VQSAGVLQTRGVAFDREQQDTHELA	VQSAGVLQTRGVVFDREQQDTHELA	1.0	6.0	-	-	4078_5:150924608-150924608 G>A_VQSAGVLQTRGVVFDREQQDTHELA
9:127998933-127998933 A>C	1.0	4078	GASTRIC	-	-	-	-	HSPA5	uc004bpn.3,p.Y635D|ENST00000324460,p.Y635D|NM_005347,p.Y635D	protein_coding	uc004bpn.3	nonsynonymous SNV	exon8	c.T1903G	p.Y635D	LEEIVQPIISKLYGSAGPPPTGEED	LEEIVQPIISKLDGSAGPPPTGEED	10.0	4.0	-	-	4078_9:127998933-127998933 A>C_LEEIVQPIISKLDGSAGPPPTGEED
6:76734961-76734961 G>C	0.0	4078	GASTRIC	-	-	-	-	IMPG1	NM_001563,p.S171C|ENST00000369963,p.S93C|ENST00000369950,p.S171C|NM_001282368,p.S93C|uc003pik.1,p.S171C	protein_coding	uc003pik.1	nonsynonymous SNV	exon5	c.C512G	p.S171C	KQRSFPDRKDEISAEKTLGEPGETI	KQRSFPDRKDEICAEKTLGEPGETI	1.0	6.0	-	-	4078_6:76734961-76734961 G>C_KQRSFPDRKDEICAEKTLGEPGETI
5:135692510-135692510 C>T	0.0	4078	GASTRIC	-	-	-	-	TRPC7	ENST00000426057,p.R189H|uc003lbn.2,p.R189H|uc010jef.2,p.R180H|uc010jei.2,p.R189H|ENST00000513104,p.R189H|uc010jeh.2,p.R189H|NM_020389,p.R189H|NM_001167576,p.R189H|NM_001167577,p.R189H|ENST00000355180,p.R189H	retained_intron, protein_coding, nonsense_mediated_decay	uc010jei.2	nonsynonymous SNV	exon2	c.G566A	p.R189H	YEIVHILLLKGARIERPHDYFCKCN	YEIVHILLLKGAHIERPHDYFCKCN	1.0	7.0	-	-	4078_5:135692510-135692510 C>T_YEIVHILLLKGAHIERPHDYFCKCN
2:128364901-128364901 C>T	0.0	4078	GASTRIC	-	-	-	-	MYO7B	ENST00000428314,p.R849C|uc002top.3,p.R849C|ENST00000409816,p.R849C|ENST00000389524,p.R849C|NM_001080527,p.R849C	retained_intron, protein_coding	uc002top.3	nonsynonymous SNV	exon21	c.C2545T	p.R849C	VQLQALCRGYLVRQQVQAKRRAVVV	VQLQALCRGYLVCQQVQAKRRAVVV	1.0	5.0	unscreened	-	4078_2:128364901-128364901 C>T_VQLQALCRGYLVCQQVQAKRRAVVV
7:120610770-120610770 T>A	1.0	4078	GASTRIC	-	-	-	-	ING3	NM_019071,p.S313T|uc003vjp.3,p.S313T|uc011kns.2,p.S298T|ENST00000315870,p.S313T|uc003vjn.3,p.S313T|ENST00000431467,p.S298T|uc003vjo.3,p.S87T	retained_intron, protein_coding, nonsense_mediated_decay	uc011kns.2	nonsynonymous SNV	exon9	c.T892A	p.S298T	KSKNNNKSSSQQSSSSSSSSSLSSC	KSKNNNKSSSQQTSSSSSSSSLSSC	7.0	7.0	-	-	4078_7:120610770-120610770 T>A_KSKNNNKSSSQQTSSSSSSSSLSSC
19:38379516-38379516 G>T	0.0	4078	GASTRIC	-	-	-	-	WDR87	NM_031951,p.Q1560K|uc002ohj.2,p.Q1599K|ENST00000447313,p.Q1599K|ENST00000303868,p.Q1560K|NM_001291088,p.Q1599K|uc010efu.2,p.Q1560K	retained_intron, protein_coding	uc010efu.2	nonsynonymous SNV	exon6	c.C4678A	p.Q1560K	EEVSREGEEKEQQVTEEQRHIQEEH	EEVSREGEEKEQKVTEEQRHIQEEH	1.0	5.0	-	-	4078_19:38379516-38379516 G>T_EEVSREGEEKEQKVTEEQRHIQEEH
8:145678708-145678708 C>T	1.0	4081	COLORECTAL	-	-	-	-	CYHR1	ENST00000526887,p.V77M|ENST00000530374,p.V170M|NM_138496,p.V128M|ENST00000438911,p.V128M|uc003zcv.2,p.V128M	retained_intron, protein_coding	uc003zcv.2	nonsynonymous SNV	exon3	c.G382A	p.V128M	EISKSLCCRNLAVEKAVSELPSECG	EISKSLCCRNLAMEKAVSELPSECG	10.0	8.0	-	-	4081_8:145678708-145678708 C>T_EISKSLCCRNLAMEKAVSELPSECG
11:64026077-64026077 C>T	1.0	4081	COLORECTAL	-	-	-	-	PLCB3	uc009ypg.2,p.T382I|ENST00000540288,p.T382I|uc009ypi.3,p.T382I|ENST00000325234,p.T315I|ENST00000279230,p.T382I|NM_000932,p.T382I|NM_001184883,p.T315I|uc009yph.2,p.T315I	retained_intron, protein_coding	uc009ypi.3	nonsynonymous SNV	exon11	c.C1145T	p.T382I	PPEEEPFITHGFTMTTEVPLRDVLE	PPEEEPFITHGFIMTTEVPLRDVLE	9.0	10.0	-	-	4081_11:64026077-64026077 C>T_PPEEEPFITHGFIMTTEVPLRDVLE
19:13186456-13186456 C>T	1.0	4081	COLORECTAL	-	-	-	-	NFIX	uc002mwf.3,p.S312F|ENST00000358552,p.S308F|ENST00000360105,p.S312F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mwf.3	nonsynonymous SNV	exon6	c.C935T	p.S312F	GTGRSPAAGSSQSSGWPNDVDAGSP	GTGRSPAAGSSQFSGWPNDVDAGSP	10.0	7.0	unscreened	-	4081_19:13186456-13186456 C>T_GTGRSPAAGSSQFSGWPNDVDAGSP
19:13186456-13186456 C>T	1.0	4081	COLORECTAL	-	-	-	-	NFIX	uc010xmx.2,p.S317F|NM_002501,p.S309F|uc002mwg.2,p.S308F|uc002mwe.4,p.S301F|ENST00000397661,p.S309F|ENST00000588228,p.S262F|uc002mwd.3,p.S309F|NM_001271043,p.S317F|ENST00000587760,p.S301F|ENST00000585575,p.S301F|NM_001271044,p.S301F|ENST00000592199,p.S309F|ENST00000587260,p.S308F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010xmx.2	nonsynonymous SNV	exon6	c.C950T	p.S317F	GTGRSPAAGSSQSSGWPNDVDAGPA	GTGRSPAAGSSQFSGWPNDVDAGPA	10.0	7.0	-	-	4081_19:13186456-13186456 C>T_GTGRSPAAGSSQFSGWPNDVDAGPA
9:130211640-130211640 A>T	1.0	4081	COLORECTAL	-	-	-	-	RPL12	ENST00000536368,p.I38N|uc004bqz.2,p.I38N	protein_coding, processed_transcript	uc004bqz.2	nonsynonymous SNV	exon3	c.T113A	p.I38N	SALAPKIGPLGLIEVVPSASALIIK	SALAPKIGPLGLNEVVPSASALIIK	10.0	9.0	-	-	4081_9:130211640-130211640 A>T_SALAPKIGPLGLNEVVPSASALIIK
9:130211640-130211640 A>T	1.0	4081	COLORECTAL	-	-	-	-	RPL12	ENST00000361436,p.I71N|NM_000976,p.I71N|uc004bqy.2,p.I71N	protein_coding, processed_transcript	uc004bqy.2	nonsynonymous SNV	exon4	c.T212A	p.I71N	TVKLTIQNRQAQIEVVPSASALIIK	TVKLTIQNRQAQNEVVPSASALIIK	10.0	9.0	-	-	4081_9:130211640-130211640 A>T_TVKLTIQNRQAQNEVVPSASALIIK
1:233464475-233464475 ->GGAG	1.0	4081	COLORECTAL	-	-	-	-	KIAA1804	ENST00000366623,p.P234fs|uc001hvs.1,p.P234fs|NM_032435,p.P234fs|ENST00000366624,p.P234fs|uc001hvt.4,p.P234fs	protein_coding	uc001hvt.4	frameshift insertion	exon1	c.701_702insGGAG	p.P234fs	RAPGPRRARRIPPHVLVNWAVQIAR	RAPGPRRARRIPPEARAGQLGRADSAGHALPA	7.0	9.0	-	-	4081_1:233464475-233464475 ->GGAG_RAPGPRRARRIPPEARAGQLGRADSAGHALPA
16:27781308-27781308 C>T	1.0	4081	COLORECTAL	-	-	-	-	KIAA0556	NM_015202,p.R1368W|uc002dow.3,p.R1368W|ENST00000261588,p.R1368W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dow.3	nonsynonymous SNV	exon21	c.C4102T	p.R1368W	DFAQEILFVDYLRAQLLPQPARRLD	DFAQEILFVDYLWAQLLPQPARRLD	7.0	3.0	-	-	4081_16:27781308-27781308 C>T_DFAQEILFVDYLWAQLLPQPARRLD
1:11217312-11217312 A>C	1.0	4081	COLORECTAL	-	-	-	1	MTOR	NM_004958,p.W1456G|uc001asd.3,p.W1456G|ENST00000361445,p.W1456G	protein_coding, processed_transcript	uc001asd.3	nonsynonymous SNV	exon30	c.T4366G	p.W1456G	EIQATWYEKLHEWEDALVAYDKKMD	EIQATWYEKLHEGEDALVAYDKKMD	6.0	7.0	-	-	4081_1:11217312-11217312 A>C_EIQATWYEKLHEGEDALVAYDKKMD
X:19369474-19369474 T>G	0.0	4081	COLORECTAL	-	-	-	-	PDHA1	ENST00000545074,p.F130V|uc004czh.4,p.F161V|ENST00000540249,p.F123V|ENST00000355808,p.F130V|uc011mjd.2,p.F123V|NM_001173455,p.F130V|NM_000284,p.F123V|ENST00000422285,p.F123V|NM_001173454,p.F161V|ENST00000379806,p.F161V|ENST00000379805,p.F123V|ENST00000423505,p.F161V|uc011mjc.2,p.F130V|NM_001173456,p.F123V|uc004czg.4,p.F123V	protein_coding, processed_transcript	uc011mjd.2	nonsynonymous SNV	exon4	c.T367G	p.F123V	TDHLITAYRAHGFTFTRGLSVREIL	TDHLITAYRAHGVTFTRGLSVREIL	10.0	1.0	-	-	4081_X:19369474-19369474 T>G_TDHLITAYRAHGVTFTRGLSVREIL
17:25630602-25630602 A>T	1.0	4081	COLORECTAL	-	-	-	-	WSB1	uc002gzd.1,p.Q140L|ENST00000262394,p.Q140L|uc010vzz.1,p.Q109L|ENST00000427287,p.Q109L|NM_015626,p.Q140L|uc010vzy.1,p.Q140L|ENST00000581185,p.Q140L|ENST00000581440,p.Q147L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vzz.1	nonsynonymous SNV	exon3	c.A326T	p.Q109L	NIEWHRFRFGQDQLLLATGLNNGRI	NIEWHRFRFGQDLLLLATGLNNGRI	9.0	7.0	-	-	4081_17:25630602-25630602 A>T_NIEWHRFRFGQDLLLLATGLNNGRI
X:18972443-18972443 C>A	0.0	4081	COLORECTAL	-	-	-	-	PHKA2	uc004cyv.4,p.G56C|NM_000292,p.G56C|ENST00000379942,p.G56C	protein_coding, processed_transcript	uc004cyv.4	nonsynonymous SNV	exon2	c.G166T	p.G56C	VRDNIYSILAVWGLGMAYRKNADRD	VRDNIYSILAVWCLGMAYRKNADRD	8.0	1.0	unscreened	-	4081_X:18972443-18972443 C>A_VRDNIYSILAVWCLGMAYRKNADRD
12:104459948-104459948 C>T	0.0	4081	COLORECTAL	-	-	ID=COSM1358319;OCCURENCE=1(large_intestine)	-	HCFC2	NM_013320,p.T56M|uc001tkj.4,p.T56M|ENST00000229330,p.T56M|ENST00000544223,p.T56M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001tkj.4	nonsynonymous SNV	exon2	c.C167T	p.T56M	GIADELHVYNTATNQWFLPAVRGDI	GIADELHVYNTAMNQWFLPAVRGDI	6.0	10.0	-	-	4081_12:104459948-104459948 C>T_GIADELHVYNTAMNQWFLPAVRGDI
16:11001192-11001192 C>T	0.0	4081	COLORECTAL	-	-	-	1	CIITA	uc002dah.2,p.R567W|NM_001286402,p.R616W|uc002dai.4,p.R615W|NM_000246,p.R615W|uc002daj.4,p.R616W|uc002dag.2,p.R615W|ENST00000324288,p.R615W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002daj.4	nonsynonymous SNV	exon11	c.C1846T	p.R616W	LLLSHSHSPTLCRAVCQLSEALLEL	LLLSHSHSPTLCWAVCQLSEALLEL	9.0	6.0	-	-	4081_16:11001192-11001192 C>T_LLLSHSHSPTLCWAVCQLSEALLEL
7:22186538-22186538 T>C	0.0	4081	COLORECTAL	-	-	-	-	RAPGEF5	NM_012294,p.S509G|ENST00000344041,p.S509G|uc011jyl.1,p.S190G|ENST00000401957,p.S359G|uc003svg.3,p.S509G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011jyl.1	nonsynonymous SNV	exon7	c.A568G	p.S190G	WDLALELMNFDWSLFNSIHEQELIY	WDLALELMNFDWGLFNSIHEQELIY	7.0	1.0	unscreened	-	4081_7:22186538-22186538 T>C_WDLALELMNFDWGLFNSIHEQELIY
12:56737813-56737813 A>C	0.0	4081	COLORECTAL	-	-	-	-	STAT2	ENST00000557235,p.L733V|uc001slc.3,p.L737V|ENST00000314128,p.L737V|NM_198332,p.L733V|uc001sld.3,p.L733V|uc001slb.3,p.L279V|NM_005419,p.L737V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sld.3	nonsynonymous SNV	exon23	c.T2197G	p.L733V	LGLVPEPELSLDLEPLLKAGLDLGP	LGLVPEPELSLDVEPLLKAGLDLGP	10.0	3.0	-	-	4081_12:56737813-56737813 A>C_LGLVPEPELSLDVEPLLKAGLDLGP
16:56536347-56536347 G>A	1.0	4081	COLORECTAL	-	-	ID=COSM1742845;OCCURENCE=1(biliary_tract)	-	BBS2	ENST00000245157,p.T321M|NM_031885,p.T321M|uc002ejd.2,p.T321M|ENST00000568104,p.T321M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ejd.2	nonsynonymous SNV	exon9	c.C962T	p.T321M	SVDGEIRGYLPGTAEMRGNLMDTSA	SVDGEIRGYLPGMAEMRGNLMDTSA	6.0	9.0	-	-	4081_16:56536347-56536347 G>A_SVDGEIRGYLPGMAEMRGNLMDTSA
4:6293713-6293713 T>G	1.0	4081	COLORECTAL	-	-	-	-	WFS1	uc003giy.3,p.V234G|ENST00000226760,p.V234G|uc003giz.3,p.V52G|NM_006005,p.V234G|uc003gix.3,p.V234G|ENST00000503569,p.V234G|NM_001145853,p.V234G	retained_intron, protein_coding	uc003giz.3	nonsynonymous SNV	exon3	c.T155G	p.V52G	SLQKQRRMLERLVSSESKNYIALDD	SLQKQRRMLERLGSSESKNYIALDD	9.0	8.0	unscreened	-	4081_4:6293713-6293713 T>G_SLQKQRRMLERLGSSESKNYIALDD
17:17699795-17699795 T>C	0.0	4081	COLORECTAL	-	-	-	-	RAI1	ENST00000261641,p.L1178P|uc002grn.1,p.L1178P|ENST00000353383,p.L1178P|uc002grm.3,p.L1178P|NM_030665,p.L1178P	sense_intronic, protein_coding, processed_transcript	uc002grn.1	nonsynonymous SNV	exon2	c.T3533C	p.L1178P	GRLPNCRATKKLLDNSHLPATFKVS	GRLPNCRATKKLPDNSHLPATFKVS	10.0	5.0	-	-	4081_17:17699795-17699795 T>C_GRLPNCRATKKLPDNSHLPATFKVS
11:78380875-78380875 T>G	0.0	4081	COLORECTAL	-	-	-	-	TENM4	uc001ozk.4,p.N397T|ENST00000530738,p.N636T|ENST00000278550,p.N2172T|uc001ozl.4,p.N2172T|NM_001098816,p.N2172T	retained_intron, protein_coding, processed_transcript	uc001ozl.4	nonsynonymous SNV	exon32	c.A6515C	p.N2172T	RSLMYWMTVQYDNMGRVVKKELKVG	RSLMYWMTVQYDTMGRVVKKELKVG	8.0	5.0	-	-	4081_11:78380875-78380875 T>G_RSLMYWMTVQYDTMGRVVKKELKVG
9:75406911-75406911 G>A	0.0	4081	COLORECTAL	-	-	ID=COSM3216816;OCCURENCE=1(liver)	-	TMC1	uc010mpa.1,p.R299H|NM_138691,p.R445H|uc004aiz.1,p.R445H|uc010moz.1,p.R403H|ENST00000340019,p.R445H|ENST00000297784,p.R445H|ENST00000396237,p.R445H|uc004ajc.1,p.R299H	protein_coding, processed_transcript	uc010mpa.1	nonsynonymous SNV	exon11	c.G896A	p.R299H	YHPLIALKWLLGRIFALLLGNLYVF	YHPLIALKWLLGHIFALLLGNLYVF	1.0	7.0	-	-	4081_9:75406911-75406911 G>A_YHPLIALKWLLGHIFALLLGNLYVF
19:10676487-10676487 ->CC	0.0	4081	COLORECTAL	-	-	-	-	KRI1	ENST00000361821,p.A27fs|uc002mox.1,p.A27fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mox.1	frameshift insertion	exon1	c.79_80insGG	p.A27fs	GVEWPRRLTWGGASRLCPAVKDRYG	GVEWPRRLTWGGGHPVCVPQ	8.0	3.0	unscreened	-	4081_19:10676487-10676487 ->CC_GVEWPRRLTWGGGHPVCVPQ
X:53111841-53111841 C>T	0.0	4081	COLORECTAL	-	-	-	-	TSPYL2	uc004drv.3,p.A54V|ENST00000375442,p.A54V|NM_022117,p.A54V|uc004drw.3,p.A54V	retained_intron, protein_coding, nonsense_mediated_decay	uc004drw.3	nonsynonymous SNV	exon1	c.C161T	p.A54V	PQQRPRLQEETEAAQVLADMRGVGL	PQQRPRLQEETEVAQVLADMRGVGL	5.0	5.0	-	-	4081_X:53111841-53111841 C>T_PQQRPRLQEETEVAQVLADMRGVGL
10:51464832-51464832 G>A	0.0	4081	COLORECTAL	-	-	ID=COSM117574;OCCURENCE=1(ovary)	-	AGAP7P	uc001jio.4,p.R542W|NM_001077685,p.R542W|ENST00000374095,p.R542W	protein_coding	uc001jio.4	nonsynonymous SNV	exon7	c.C1624T	p.R542W	KPTEKSTREEKERWIRSKYEEKLFL	KPTEKSTREEKEWWIRSKYEEKLFL	5.0	8.0	-	-	4081_10:51464832-51464832 G>A_KPTEKSTREEKEWWIRSKYEEKLFL
13:37573401-37573401 C>T	0.0	4081	COLORECTAL	-	-	-	-	ALG5	ENST00000443765,p.A13T|uc001uvy.3,p.A13T|uc010teq.2,p.A13T|ENST00000413537,p.A13T|NM_013338,p.A13T|ENST00000239891,p.A13T|NM_001142364,p.A13T	protein_coding, processed_transcript	uc010teq.2	nonsynonymous SNV	exon1	c.G37A	p.A13T	MAPLLLQLAVLGAALAAAALVLISI	MAPLLLQLAVLGTALAAAALVLISI	6.0	1.0	unscreened	-	4081_13:37573401-37573401 C>T_MAPLLLQLAVLGTALAAAALVLISI
3:47446239-47446239 C>T	0.0	4081	COLORECTAL	0.0014	-	-	-	PTPN23	uc011baw.1,p.S61L|ENST00000456221,p.S61L|uc003crf.1,p.S86L|ENST00000265562,p.S86L|NM_015466,p.S86L	retained_intron, protein_coding, nonsense_mediated_decay	uc011baw.1	nonsynonymous SNV	exon2	c.C182T	p.S61L	QLHYLQSRVPMGSGQEAAVPVTWTE	QLHYLQSRVPMGLGQEAAVPVTWTE	8.0	9.0	-	-	4081_3:47446239-47446239 C>T_QLHYLQSRVPMGLGQEAAVPVTWTE
3:9972594-9972594 T>G	0.0	4081	COLORECTAL	-	-	-	-	IL17RC	ENST00000383812,p.L437V|uc003bue.3,p.L88V|uc003bub.3,p.L437V|uc010hcu.3,p.L435V|NM_153460,p.L452V|NM_001203264,p.L435V|ENST00000416074,p.L291V|ENST00000403601,p.L452V|uc003bua.3,p.L523V|uc010hct.3,p.L452V|NM_153461,p.L523V|NM_001203265,p.L420V|NM_032732,p.L437V|NM_001203263,p.L452V|uc011atq.2,p.L437V|ENST00000455057,p.L420V|ENST00000295981,p.L523V|uc010hcv.3,p.L420V|ENST00000413608,p.L452V|uc011atp.2,p.L291V|uc003btz.3,p.L452V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011atq.2	nonsynonymous SNV	exon15	c.T1309G	p.L437V	QSGQCLQLWDDDLGALWACPMDKYI	QSGQCLQLWDDDVGALWACPMDKYI	9.0	5.0	-	-	4081_3:9972594-9972594 T>G_QSGQCLQLWDDDVGALWACPMDKYI
17:72863031-72863031 ->GA	0.0	4081	COLORECTAL	-	-	-	-	FDXR	uc010wrl.2,p.D92fs|NM_001258012,p.D92fs|ENST00000581219,p.D92fs|ENST00000442102,p.D92fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wrl.2	frameshift insertion	exon3	c.273_274insTC	p.D92fs	GEDLGASQPLSLDPTSCHPVPQQHP	GEDLGASQPLSLSTPPAATLFPSSTPRPTWTSTRNSLCPLAWCALVWRLITPR	6.0	2.0	-	-	4081_17:72863031-72863031 ->GA_GEDLGASQPLSLSTPPAATLFPSSTPRPTWTSTRNSLCPLAWCALVWRLITPR
16:53682904-53682904 T>G	0.0	4081	COLORECTAL	-	-	-	-	RPGRIP1L	ENST00000564374,p.N759T|NM_015272,p.N759T|uc010cbx.3,p.N759T|uc002eho.4,p.N759T|uc010vgz.1,p.N759T|ENST00000379925,p.N759T|ENST00000262135,p.N759T|NM_001127897,p.N759T|uc002ehp.3,p.N759T|ENST00000563746,p.N759T|uc010vgy.2,p.N759T	retained_intron, protein_coding, processed_transcript	uc010vgz.1	nonsynonymous SNV	exon16	c.A2276C	p.N759T	RERAKALGYITSNFKGPEHMQSLSQ	RERAKALGYITSTFKGPEHMQSLSQ	6.0	6.0	-	-	4081_16:53682904-53682904 T>G_RERAKALGYITSTFKGPEHMQSLSQ
9:79520866-79520866 A>-	0.0	4081	COLORECTAL	-	-	-	-	PRUNE2	NM_015225,p.L5fs|ENST00000376713,p.L5fs|uc010mpk.3,p.L5fs|ENST00000376718,p.L5fs|uc004akn.3,p.L5fs	protein_coding, processed_transcript	uc010mpk.3	frameshift deletion	exon1	c.14delT	p.L5fs	MEEFLQRAKSKLNRSKR	MEEFCNAPNLN	8.0	4.0	-	-	4081_9:79520866-79520866 A>-_MEEFCNAPNLN
X:23724823-23724823 G>A	0.0	4081	COLORECTAL	-	-	ID=COSM457273;OCCURENCE=1(breast)	-	ACOT9	ENST00000336430,p.T246M|uc004dao.3,p.T255M|uc004dar.3,p.T186M|NM_001033583,p.T246M|ENST00000473710,p.T172M|uc004dap.3,p.T246M|ENST00000379303,p.T255M|ENST00000379295,p.T186M|NM_001037171,p.T255M	retained_intron, protein_coding, nonsense_mediated_decay	uc004dar.3	nonsynonymous SNV	exon9	c.C557T	p.T186M	ELNKGRRIAFSSTSLLKMAPSAEER	ELNKGRRIAFSSMSLLKMAPSAEER	6.0	7.0	-	-	4081_X:23724823-23724823 G>A_ELNKGRRIAFSSMSLLKMAPSAEER
19:5231497-5231497 G>A	0.0	4081	COLORECTAL	-	-	-	-	PTPRS	ENST00000587303,p.P660L|ENST00000262963,p.P656L|ENST00000348075,p.P647L|NM_130854,p.P647L|ENST00000372412,p.P661L|uc002mbv.3,p.P660L|ENST00000357368,p.P660L|uc002mbw.3,p.P647L|ENST00000588012,p.P647L|NM_002850,p.P660L	retained_intron, protein_coding, processed_transcript	uc002mbw.3	nonsynonymous SNV	exon11	c.C1940T	p.P647L	NGALVGYSVRYRPLGSEDPEPKEVN	NGALVGYSVRYRLLGSEDPEPKEVN	8.0	4.0	-	-	4081_19:5231497-5231497 G>A_NGALVGYSVRYRLLGSEDPEPKEVN
19:18649109-18649109 T>G	0.0	4081	COLORECTAL	-	-	-	-	FKBP8	ENST00000597960,p.N230T|ENST00000222308,p.N230T|ENST00000597611,p.N230T|ENST00000596558,p.N229T|uc002njk.1,p.N229T|NM_012181,p.N230T|uc002njj.1,p.N230T|ENST00000453489,p.N258T|uc010xqi.1,p.N258T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xqi.1	nonsynonymous SNV	exon5	c.A773C	p.N258T	RVALANRKRECGNAHYQRADFVLAA	RVALANRKRECGTAHYQRADFVLAA	10.0	9.0	-	-	4081_19:18649109-18649109 T>G_RVALANRKRECGTAHYQRADFVLAA
X:153578408-153578408 C>T	0.0	4081	COLORECTAL	-	-	-	2	FLNA	uc011mzn.1,p.G575S|ENST00000369850,p.G2442S|ENST00000422373,p.G2434S|NM_001456,p.G2434S|NM_001110556,p.G2442S|ENST00000360319,p.G2434S|ENST00000369856,p.G575S|uc004fkk.2,p.G2442S|uc010nuu.1,p.G2434S|ENST00000344736,p.G2402S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011mzn.1	nonsynonymous SNV	exon16	c.G1723A	p.G575S	GLVSAYGAGLEGGVTGNPAEFVVNT	GLVSAYGAGLEGSVTGNPAEFVVNT	10.0	6.0	-	-	4081_X:153578408-153578408 C>T_GLVSAYGAGLEGSVTGNPAEFVVNT
3:142274740-142274740 T>-	0.0	4081	COLORECTAL	-	-	ID=COSM214499;OCCURENCE=1(breast),22(large_intestine),1(pancreas)	1	ATR	ENST00000383101,p.I710fs|uc003eux.4,p.I774fs|NM_001184,p.I774fs|ENST00000350721,p.I774fs	retained_intron, protein_coding, nonsense_mediated_decay	uc003eux.4	frameshift deletion	exon10	c.2320delA	p.I774fs	VCKPFLFLLKKKIPSPVKLAFIDNL	VCKPFLFLLKKKYLVQ	7.0	1.0	unscreened	-	4081_3:142274740-142274740 T>-_VCKPFLFLLKKKYLVQ
19:5867492-5867492 G>A	0.0	4081	COLORECTAL	-	-	ID=COSM1002673;OCCURENCE=1(endometrium)	-	FUT5	NM_002034,p.T82M|uc010duo.3,p.T82M|uc002mdo.4,p.T82M|ENST00000252675,p.T82M|ENST00000588525,p.T82M|uc021uno.1,p.T82M	protein_coding	uc021uno.1	nonsynonymous SNV	exon1	c.C245T	p.T82M	TPAHPTLLILLWTWPFNTPVALPRC	TPAHPTLLILLWMWPFNTPVALPRC	1.0	2.0	-	-	4081_19:5867492-5867492 G>A_TPAHPTLLILLWMWPFNTPVALPRC
1:213032081-213032081 G>T	0.0	4081	COLORECTAL	-	-	-	-	FLVCR1	ENST00000366971,p.S96I|NM_014053,p.S96I|uc001hjt.3,p.S96I	protein_coding, processed_transcript	uc001hjt.3	nonsynonymous SNV	exon1	c.G287T	p.S96I	AGAGAETPGAESSPLPLTALSPRRF	AGAGAETPGAESIPLPLTALSPRRF	6.0	1.0	unscreened	-	4081_1:213032081-213032081 G>T_AGAGAETPGAESIPLPLTALSPRRF
1:248308963-248308963 C>T	0.0	4081	COLORECTAL	-	-	ID=COSM267072;OCCURENCE=2(NS),1(endometrium),1(large_intestine)	-	OR2M5	uc010pze.2,p.R172W|NM_001004690,p.R172W|ENST00000366476,p.R172W	protein_coding	uc010pze.2	nonsynonymous SNV	exon1	c.C514T	p.R172W	AVATFSFSYCGSREIAHFFCDFPSL	AVATFSFSYCGSWEIAHFFCDFPSL	1.0	10.0	-	-	4081_1:248308963-248308963 C>T_AVATFSFSYCGSWEIAHFFCDFPSL
3:178921553-178921553 T>A	0.0	4081	COLORECTAL	-	-	ID=COSM754,COSM132748;OCCURENCE=1(lung),5(central_nervous_system),1(stomach),44(breast),4(large_intestine),1(prostate),2(urinary_tract),5(endometrium),1(salivary_gland)	1	PIK3CA	NM_006218,p.N345K|ENST00000263967,p.N345K|uc003fjk.3,p.N345K	retained_intron, protein_coding	uc003fjk.3	nonsynonymous SNV	exon5	c.T1035A	p.N345K	ALRIKILCATYVNVNIRDIDKIYVR	ALRIKILCATYVKVNIRDIDKIYVR	3.0	8.0	-	-	4081_3:178921553-178921553 T>A_ALRIKILCATYVKVNIRDIDKIYVR
11:99715643-99715643 G>T	0.0	4081	COLORECTAL	-	-	-	-	CNTN5	ENST00000524871,p.D113Y|ENST00000527185,p.D113Y|NM_014361,p.D113Y|ENST00000528682,p.D113Y|ENST00000418526,p.D39Y|NM_175566,p.D39Y|ENST00000279463,p.D113Y|uc001pfz.3,p.D113Y|NM_001243270,p.D113Y|uc021qpc.1,p.D39Y|uc021qpb.1,p.D113Y|uc001pga.3,p.D113Y|uc009ywv.2,p.D113Y|NM_001243271,p.D113Y	retained_intron, protein_coding, processed_transcript	uc021qpc.1	nonsynonymous SNV	exon2	c.G115T	p.D39Y	FVQEPDDIIFPTDSDEKKVALNCEV	FVQEPDDIIFPTYSDEKKVALNCEV	1.0	3.0	-	-	4081_11:99715643-99715643 G>T_FVQEPDDIIFPTYSDEKKVALNCEV
16:67943094-67943094 C>T	1.0	4081	COLORECTAL	-	-	-	-	PSKH1	uc002euv.3,p.R148C|ENST00000291041,p.R148C|uc010cet.2,p.R148C|NM_006742,p.R148C	protein_coding, processed_transcript	uc010cet.2	nonsynonymous SNV	exon2	c.C442T	p.R148C	GREVCESELRVLRRVRHANIIQLVE	GREVCESELRVLCRVRHANIIQLVE	7.0	4.0	-	-	4081_16:67943094-67943094 C>T_GREVCESELRVLCRVRHANIIQLVE
2:182542962-182542962 G>A	0.0	4081	COLORECTAL	-	-	-	-	NEUROD1	NM_002500,p.T209M|uc002uof.4,p.T209M|ENST00000295108,p.T209M|uc021vto.1,p.T209M	protein_coding, processed_transcript	uc021vto.1	nonsynonymous SNV	exon1	c.C626T	p.T209M	PEQNQDMPPHLPTASASFPVHPYSY	PEQNQDMPPHLPMASASFPVHPYSY	1.0	1.0	unscreened	-	4081_2:182542962-182542962 G>A_PEQNQDMPPHLPMASASFPVHPYSY
11:35336668-35336668 T>C	0.0	4081	COLORECTAL	-	-	-	-	SLC1A2	ENST00000606205,p.H71R|ENST00000395753,p.H62R|NM_004171,p.H71R|ENST00000449068,p.H67R|NM_001195728,p.H62R|uc001mwe.3,p.H62R|uc001mwd.3,p.H71R|uc021qfx.1,p.H62R|ENST00000395750,p.H62R|ENST00000278379,p.H71R|NM_001252652,p.H62R|uc010rev.1,p.H71R	protein_coding, processed_transcript	uc021qfx.1	nonsynonymous SNV	exon4	c.A185G	p.H62R	VCGGLLRLASPIHPDVVMLIAFPGD	VCGGLLRLASPIRPDVVMLIAFPGD	1.0	7.0	-	-	4081_11:35336668-35336668 T>C_VCGGLLRLASPIRPDVVMLIAFPGD
5:142693612-142693612 A>C	0.0	4081	COLORECTAL	-	-	-	-	NR3C1	ENST00000503201,p.L436V|ENST00000343796,p.L436V|ENST00000424646,p.L410V|uc021yfa.1,p.L436V|ENST00000394466,p.L436V|NM_001018076,p.L436V|ENST00000504572,p.L436V|uc011dbk.2,p.L39V|uc003lnb.3,p.L436V|NM_001204261,p.L339V|uc003lmy.3,p.L436V|uc003lna.3,p.L436V|uc003lnd.3,p.L436V|NM_001204260,p.L347V|NM_001204258,p.L410V|NM_001018077,p.L436V|NM_001018074,p.L436V|NM_001024094,p.L436V|NM_001204265,p.L436V|uc021yfb.1,p.L436V|NM_001204264,p.L101V|NM_001204259,p.L351V|NM_001204262,p.L121V|ENST00000415690,p.L436V|NM_000176,p.L436V|uc031slp.1,p.L436V|uc003lmz.3,p.L101V|NM_001018075,p.L436V|ENST00000416954,p.L39V|uc003lne.3,p.L436V|NM_001020825,p.L436V|ENST00000394464,p.L436V|ENST00000231509,p.L436V|uc003lnc.3,p.L436V|uc003lnf.3,p.L436V|NM_001204263,p.L106V	protein_coding, processed_transcript	uc031slp.1	nonsynonymous SNV	exon2	c.T1306G	p.L436V	CSDEASGCHYGVLTCGSCKVFFKRA	CSDEASGCHYGVVTCGSCKVFFKRA	7.0	7.0	-	-	4081_5:142693612-142693612 A>C_CSDEASGCHYGVVTCGSCKVFFKRA
4:189060944-189060944 G>A	0.0	4081	COLORECTAL	-	-	ID=COSM209201;OCCURENCE=1(large_intestine)	-	TRIML1	ENST00000332517,p.A78T|NM_178556,p.A78T|uc003izm.1,p.A78T	protein_coding, processed_transcript	uc003izm.1	nonsynonymous SNV	exon1	c.G232A	p.A78T	QSNERLGRLASIARQLRSQVLQSED	QSNERLGRLASITRQLRSQVLQSED	1.0	10.0	-	-	4081_4:189060944-189060944 G>A_QSNERLGRLASITRQLRSQVLQSED
17:7329035-7329035 G>A	0.0	4081	COLORECTAL	-	-	-	-	C17orf74	uc002ggw.3,p.V10M|NM_175734,p.V10M|ENST00000574034,p.V10M|ENST00000333870,p.V10M	protein_coding	uc002ggw.3	nonsynonymous SNV	exon1	c.G28A	p.V10M	MENQLWHNTVRCCNQYQESPHD	MENQLWHNTMRCCNQYQESPHD	1.0	8.0	-	-	4081_17:7329035-7329035 G>A_MENQLWHNTMRCCNQYQESPHD
1:26073256-26073256 G>C	0.0	4081	COLORECTAL	-	-	-	-	MAN1C1	NM_001289010,p.E245D|uc009vry.1,p.E65D|ENST00000263979,p.E65D|ENST00000374332,p.E245D|ENST00000374329,p.E16D|uc001bkm.2,p.E245D|NM_020379,p.E245D	protein_coding, processed_transcript	uc009vry.1	nonsynonymous SNV	exon4	c.G195C	p.E65D	KEEFQEAKAWVGESFHLNVSGEASL	KEEFQEAKAWVGDSFHLNVSGEASL	5.0	10.0	-	-	4081_1:26073256-26073256 G>C_KEEFQEAKAWVGDSFHLNVSGEASL
5:7773174-7773174 G>A	0.0	4081	COLORECTAL	-	-	ID=COSM1544532;OCCURENCE=1(lung)	-	ADCY2	NM_020546,p.A782T|ENST00000338316,p.A782T|uc003jdz.1,p.A782T|uc011cmo.1,p.A602T|ENST00000537121,p.A602T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cmo.1	nonsynonymous SNV	exon15	c.G1804A	p.A602T	LVGYNTILLHTHAHVLGDYSQVLFE	LVGYNTILLHTHTHVLGDYSQVLFE	1.0	2.0	unscreened	-	4081_5:7773174-7773174 G>A_LVGYNTILLHTHTHVLGDYSQVLFE
17:26902259-26902259 C>T	0.0	4081	COLORECTAL	-	-	-	-	ALDOC	ENST00000578590,p.R69H|ENST00000581807,p.R30H|uc002hbp.3,p.R69H|ENST00000460201,p.R69H|ENST00000395321,p.R69H|NM_005165,p.R69H|ENST00000584086,p.R69H|ENST00000226253,p.R69H|ENST00000395319,p.R69H|ENST00000435638,p.R69H	retained_intron, protein_coding	uc002hbp.3	nonsynonymous SNV	exon3	c.G206A	p.R69H	RLYRQVLFSADDRVKKCIGGVIFFH	RLYRQVLFSADDHVKKCIGGVIFFH	7.0	4.0	CD8	-	4081_17:26902259-26902259 C>T_RLYRQVLFSADDHVKKCIGGVIFFH
11:89182647-89182647 A>G	0.0	4081	COLORECTAL	-	-	-	-	NOX4	uc001pct.3,p.F104L|ENST00000528341,p.F79L|ENST00000542487,p.F80L|NM_001143836,p.F104L|ENST00000527956,p.F80L|ENST00000529343,p.F104L|ENST00000413594,p.F125L|uc001pcv.3,p.F104L|ENST00000343727,p.F80L|NM_001291926,p.F30L|NM_001143837,p.F80L|uc001pcu.3,p.F30L|ENST00000532825,p.F80L|uc009yvq.3,p.F80L|NM_001291929,p.F79L|uc010rtv.2,p.F80L|NM_001291927,p.F125L|ENST00000525196,p.F104L|ENST00000535633,p.F80L|NM_016931,p.F104L|ENST00000424319,p.F80L|uc009yvr.3,p.F79L|uc009yvp.3,p.F104L|ENST00000263317,p.F104L|NM_001300995,p.F80L|ENST00000534731,p.F104L	retained_intron, protein_coding, nonsense_mediated_decay	uc010rtv.2	nonsynonymous SNV	exon4	c.T238C	p.F80L	RRTRRLLDKSRTFHITCGVTICIFS	RRTRRLLDKSRTLHITCGVTICIFS	7.0	4.0	-	-	4081_11:89182647-89182647 A>G_RRTRRLLDKSRTLHITCGVTICIFS
X:53111841-53111841 C>T	0.0	4081	COLORECTAL	-	-	-	-	TSPYL2	ENST00000579390,p.A54V	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000579390	nonsynonymous SNV	exon1	c.C161T	p.A54V	PQQRPRLQEETEAAQIIKNDLWVNP	PQQRPRLQEETEVAQIIKNDLWVNP	5.0	5.0	-	-	4081_X:53111841-53111841 C>T_PQQRPRLQEETEVAQIIKNDLWVNP
8:10387179-10387179 C>T	0.0	4081	COLORECTAL	-	-	-	-	PRSS55	NM_001197020,p.A106V|NM_198464,p.A106V|uc003wta.3,p.A106V|ENST00000328655,p.A106V|uc022art.1,p.A106V|ENST00000522210,p.A106V	protein_coding, nonsense_mediated_decay	uc022art.1	nonsynonymous SNV	exon2	c.C317T	p.A106V	GGSILNKWWILTAAHCLYSEELFPE	GGSILNKWWILTVAHCLYSEELFPE	1.0	7.0	-	-	4081_8:10387179-10387179 C>T_GGSILNKWWILTVAHCLYSEELFPE
3:121340508-121340508 C>T	0.0	4081	COLORECTAL	-	-	-	-	FBXO40	NM_016298,p.R78C|uc003eeg.2,p.R78C|ENST00000338040,p.R78C	protein_coding	uc003eeg.2	nonsynonymous SNV	exon3	c.C232T	p.R78C	LNSEYGCPLSMSRHKLAKHLQVCPA	LNSEYGCPLSMSCHKLAKHLQVCPA	1.0	10.0	-	-	4081_3:121340508-121340508 C>T_LNSEYGCPLSMSCHKLAKHLQVCPA
12:25378562-25378562 C>T	1.0	4081	COLORECTAL	-	-	ID=COSM1165198,COSM19404;OCCURENCE=91(large_intestine),2(small_intestine),1(upper_aerodigestive_tract),11(haematopoietic_and_lymphoid_tissue)	1	KRAS	uc001rgq.1,p.A146T|ENST00000311936,p.A146T|NM_004985,p.A146T	protein_coding	uc001rgq.1	nonsynonymous SNV	exon4	c.G436A	p.A146T	ARSYGIPFIETSAKTRQGVDDAFYT	ARSYGIPFIETSTKTRQGVDDAFYT	6.0	10.0	-	-	4081_12:25378562-25378562 C>T_ARSYGIPFIETSTKTRQGVDDAFYT
X:54837298-54837298 T>A	0.0	4081	COLORECTAL	-	-	-	-	MAGED2	ENST00000347546,p.S138R|uc004dtl.1,p.S194R|ENST00000375060,p.S156R|NM_014599,p.S194R|ENST00000375062,p.S156R|ENST00000396224,p.S194R|ENST00000218439,p.S194R|uc004dtk.1,p.S194R|uc004dtm.1,p.S156R|ENST00000375068,p.S194R|NM_201222,p.S194R|ENST00000375058,p.S194R|ENST00000375053,p.S194R|ENST00000343474,p.S176R|uc004dto.1,p.S168R|uc004dtn.1,p.S194R|NM_177433,p.S194R	protein_coding, processed_transcript	uc004dto.1	nonsynonymous SNV	exon2	c.T504A	p.S168R	HLDGEEDGSSDQSQASGTTGGRRVS	HLDGEEDGSSDQRQASGTTGGRRVS	10.0	6.0	unscreened	-	4081_X:54837298-54837298 T>A_HLDGEEDGSSDQRQASGTTGGRRVS
12:25378562-25378562 C>T	1.0	4081	COLORECTAL	-	-	ID=COSM1165198,COSM19404;OCCURENCE=91(large_intestine),2(small_intestine),1(upper_aerodigestive_tract),11(haematopoietic_and_lymphoid_tissue)	1	KRAS	ENST00000256078,p.A146T|NM_033360,p.A146T|uc001rgp.1,p.A146T	protein_coding	uc001rgp.1	nonsynonymous SNV	exon4	c.G436A	p.A146T	ARSYGIPFIETSAKTRQRVEDAFYT	ARSYGIPFIETSTKTRQRVEDAFYT	6.0	10.0	unscreened	-	4081_12:25378562-25378562 C>T_ARSYGIPFIETSTKTRQRVEDAFYT
9:139734176-139734176 G>A	1.0	4081	COLORECTAL	0.0032	-	-	-	RABL6	ENST00000371675,p.D482N|ENST00000311502,p.D597N|NM_024718,p.D597N|NM_001173988,p.D598N|ENST00000435930,p.D391N|uc004cji.1,p.D597N|uc004cjj.1,p.D598N|uc010nbs.1,p.D482N|uc004cjn.1,p.D391N|ENST00000371663,p.D598N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010nbs.1	nonsynonymous SNV	exon13	c.G1444A	p.D482N	RADDFPVRDDPSDVTDEDEGPAEPP	RADDFPVRDDPSNVTDEDEGPAEPP	10.0	5.0	-	-	4081_9:139734176-139734176 G>A_RADDFPVRDDPSNVTDEDEGPAEPP
16:56871607-56871607 C>A	0.0	4081	COLORECTAL	-	-	-	-	NUP93	NM_001242796,p.L540M|NM_014669,p.L663M|uc010vhi.2,p.L540M|uc002eka.3,p.L663M|ENST00000542526,p.L540M|ENST00000563405,p.L61M|uc002ekb.3,p.L540M|ENST00000564887,p.L540M|NM_001242795,p.L540M|ENST00000569842,p.L663M|ENST00000308159,p.L663M	retained_intron, protein_coding, processed_transcript, TEC	uc010vhi.2	nonsynonymous SNV	exon16	c.C1618A	p.L540M	PQISAPQSNKERLKNMALSIAERYR	PQISAPQSNKERMKNMALSIAERYR	6.0	6.0	-	-	4081_16:56871607-56871607 C>A_PQISAPQSNKERMKNMALSIAERYR
15:23811996-23811996 G>T	0.0	4081	COLORECTAL	-	-	-	-	MKRN3	NM_005664,p.R356M|ENST00000564592,p.R116M|uc010ayi.1,p.R356M|ENST00000314520,p.R356M|uc001ywh.4,p.R356M	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ayi.1	nonsynonymous SNV	exon1	c.G1067T	p.R356M	IRRWRSARQFENRIVKSCPQCRVTS	IRRWRSARQFENMIVKSCPQCRVTS	1.0	1.0	-	-	4081_15:23811996-23811996 G>T_IRRWRSARQFENMIVKSCPQCRVTS
17:42512485-42512485 C>T	0.0	4081	COLORECTAL	-	-	-	-	GPATCH8	ENST00000585614,p.R74H|ENST00000434000,p.R21H|uc010wiz.2,p.R21H|uc002igv.2,p.R21H|NM_001002909,p.R99H|ENST00000591680,p.R99H|uc002igw.2,p.R99H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wiz.2	nonsynonymous SNV	exon6	c.G62A	p.R21H	ELDYAEDATERRRVLEVEKEDTEEL	ELDYAEDATERRHVLEVEKEDTEEL	8.0	9.0	-	-	4081_17:42512485-42512485 C>T_ELDYAEDATERRHVLEVEKEDTEEL
5:40692061-40692061 C>T	0.0	4081	COLORECTAL	-	-	-	-	PTGER4	ENST00000302472,p.R350C|uc003jlz.3,p.R350C|NM_000958,p.R350C	protein_coding, processed_transcript	uc003jlz.3	nonsynonymous SNV	exon3	c.C1048T	p.R350C	SKAIEKIKCLFCRIGGSRRERSGQH	SKAIEKIKCLFCCIGGSRRERSGQH	9.0	3.0	-	-	4081_5:40692061-40692061 C>T_SKAIEKIKCLFCCIGGSRRERSGQH
6:49409607-49409607 C>A	0.0	4081	COLORECTAL	-	-	-	-	MUT	NM_000255,p.G585V|ENST00000274813,p.G585V|uc003ozg.4,p.G585V	protein_coding	uc003ozg.4	nonsynonymous SNV	exon10	c.G1754T	p.G585V	FGEHKANDRMVSGAYRQEFGESKEI	FGEHKANDRMVSVAYRQEFGESKEI	3.0	1.0	unscreened	-	4081_6:49409607-49409607 C>A_FGEHKANDRMVSVAYRQEFGESKEI
1:157514764-157514764 T>A	0.0	4081	COLORECTAL	-	-	-	-	FCRL5	uc009wsm.3,p.D139V|ENST00000361835,p.D139V|ENST00000356953,p.D139V|NM_031281,p.D139V|uc001fqu.3,p.D139V|ENST00000368189,p.D139V|uc010phv.1,p.D139V|ENST00000368191,p.D54V|uc010phw.1,p.D54V|NM_001195388,p.D139V|ENST00000368190,p.D139V|uc001fqv.1,p.D139V	protein_coding, processed_transcript	uc010phw.1	nonsynonymous SNV	exon3	c.A161T	p.D54V	AEVTLNNTIYKNDNVLAFLNKRTDF	AEVTLNNTIYKNVNVLAFLNKRTDF	5.0	2.0	-	-	4081_1:157514764-157514764 T>A_AEVTLNNTIYKNVNVLAFLNKRTDF
3:178936095-178936095 A>T	0.0	4081	COLORECTAL	-	-	ID=COSM25041,COSM1757082;OCCURENCE=1(upper_aerodigestive_tract),3(large_intestine),2(urinary_tract),2(breast)	1	PIK3CA	uc003fjk.3,p.Q546L|ENST00000263967,p.Q546L|NM_006218,p.Q546L	retained_intron, protein_coding	uc003fjk.3	nonsynonymous SNV	exon10	c.A1637T	p.Q546L	ISTRDPLSEITEQEKDFLWSHRHYC	ISTRDPLSEITELEKDFLWSHRHYC	3.0	9.0	unscreened	-	4081_3:178936095-178936095 A>T_ISTRDPLSEITELEKDFLWSHRHYC
19:57646776-57646776 G>A	0.0	4081	COLORECTAL	-	-	-	-	ZIM3	NM_052882,p.T310M|uc002qnz.1,p.T310M|ENST00000269834,p.T310M	protein_coding	uc002qnz.1	nonsynonymous SNV	exon5	c.C929T	p.T310M	KKVHTGQKPFQCTDCGKAFIYKSDL	KKVHTGQKPFQCMDCGKAFIYKSDL	1.0	6.0	-	-	4081_19:57646776-57646776 G>A_KKVHTGQKPFQCMDCGKAFIYKSDL
9:104152997-104152997 T>G	0.0	4081	COLORECTAL	-	-	-	-	MRPL50	NM_019051,p.E76D|uc004bbe.2,p.E76D|uc011lvj.2,p.E76D|ENST00000374865,p.E76D|ENST00000539624,p.E76D	protein_coding	uc011lvj.2	nonsynonymous SNV	exon2	c.A228C	p.E76D	EDLQSRLESYVKEVFGSSLPSNWQD	EDLQSRLESYVKDVFGSSLPSNWQD	3.0	2.0	-	-	4081_9:104152997-104152997 T>G_EDLQSRLESYVKDVFGSSLPSNWQD
19:9056557-9056557 C>T	0.0	4081	COLORECTAL	-	-	-	2	MUC16	NM_024690,p.A10297T|ENST00000397910,p.A10297T|uc002mkp.3,p.A10297T	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.G30889A	p.A10297T	AMTSFATTGVPRAISGSGSPFSRTE	AMTSFATTGVPRTISGSGSPFSRTE	7.0	1.0	unscreened	-	4081_19:9056557-9056557 C>T_AMTSFATTGVPRTISGSGSPFSRTE
2:177054581-177054581 G>A	0.0	4081	COLORECTAL	-	-	-	-	HOXD1	ENST00000331462,p.R233H|uc002ukv.5,p.R233H|NM_024501,p.R233H	protein_coding	uc002ukv.5	nonsynonymous SNV	exon2	c.G698A	p.R233H	AEYGAASPSSAIRTNFSTKQLTELE	AEYGAASPSSAIHTNFSTKQLTELE	1.0	4.0	-	-	4081_2:177054581-177054581 G>A_AEYGAASPSSAIHTNFSTKQLTELE
4:2966983-2966983 G>A	0.0	4081	COLORECTAL	-	-	-	-	GRK4	ENST00000442472,p.A52T|uc003ggm.3,p.A52T	retained_intron, protein_coding, processed_transcript	uc003ggm.3	nonsynonymous SNV	exon2	c.G154A	p.A52T	AAAESASSPLHPATKASVGPALQRE	AAAESASSPLHPTTKASVGPALQRE	3.0	9.0	-	-	4081_4:2966983-2966983 G>A_AAAESASSPLHPTTKASVGPALQRE
6:136268611-136268611 G>A	0.0	4081	COLORECTAL	-	-	ID=COSM276696;OCCURENCE=2(endometrium),1(large_intestine)	-	PDE7B	NM_018945,p.E11K|uc003qgp.3,p.E11K|ENST00000308191,p.E11K	protein_coding	uc003qgp.3	nonsynonymous SNV	exon2	c.G31A	p.E11K	MSCLMVERCGEILFENPDQNAKC	MSCLMVERCGKILFENPDQNAKC	3.0	3.0	-	-	4081_6:136268611-136268611 G>A_MSCLMVERCGKILFENPDQNAKC
5:140307549-140307549 G>C	0.0	4081	COLORECTAL	-	-	-	-	PCDHAC1	ENST00000253807,p.V358L|uc003lig.1,p.V358L|NM_018898,p.V358L|ENST00000409700,p.V358L|uc003lih.2,p.V358L|NM_031882,p.V358L	protein_coding	uc003lih.2	nonsynonymous SNV	exon1	c.G1072C	p.V358L	SNPVPEDAAPGTVIALFSVKDEDLD	SNPVPEDAAPGTLIALFSVKDEDLD	2.0	4.0	-	-	4081_5:140307549-140307549 G>C_SNPVPEDAAPGTLIALFSVKDEDLD
19:38014348-38014348 G>A	0.0	4081	COLORECTAL	0	-	-	-	ZNF793	ENST00000542455,p.E3K|ENST00000588578,p.E3K|NM_001013659,p.E3K|uc010xts.2,p.E3K|ENST00000587986,p.E3K|uc031rkk.1,p.E3K|uc010efm.3,p.E3K|ENST00000586138,p.E3K|ENST00000589319,p.E3K|ENST00000587143,p.E3K|ENST00000445217,p.E3K	protein_coding, nonsense_mediated_decay	uc031rkk.1	nonsynonymous SNV	exon5	c.G7A	p.E3K	MIEYQIPVSFKDVVV	MIKYQIPVSFKDVVV	3.0	10.0	-	-	4081_19:38014348-38014348 G>A_MIKYQIPVSFKDVVV
5:139940955-139940955 C>T	0.0	4081	COLORECTAL	-	-	-	-	APBB3	uc021yeg.1,p.R283Q|NM_133172,p.R281Q|NM_006051,p.R283Q|ENST00000354402,p.R283Q|ENST00000412920,p.R274Q|uc003lgd.1,p.R281Q|uc003lge.1,p.R274Q|uc011czi.1,p.R53Q|NM_133174,p.R274Q|NM_133173,p.R276Q|ENST00000358580,p.R276Q|ENST00000356738,p.R281Q|uc010jfq.1,p.R53Q|ENST00000511201,p.R274Q|uc003lgc.1,p.R53Q|uc003lgb.1,p.R53Q|ENST00000508496,p.R53Q|ENST00000357560,p.R276Q|uc021yeh.1,p.R276Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021yeh.1	nonsynonymous SNV	exon9	c.G827A	p.R276Q	CSPDPISPEDLPRQVELLDAVSQAA	CSPDPISPEDLPQQVELLDAVSQAA	7.0	6.0	-	-	4081_5:139940955-139940955 C>T_CSPDPISPEDLPQQVELLDAVSQAA
15:27128535-27128535 C>T	0.0	4081	COLORECTAL	-	-	ID=COSM281290;OCCURENCE=1(large_intestine)	-	GABRA5	ENST00000555182,p.R78W|ENST00000400081,p.R110W|uc001zbd.2,p.R110W|ENST00000554596,p.R110W|ENST00000335625,p.R110W|NM_001165037,p.R110W|NM_000810,p.R110W|uc021sgi.1,p.R110W|ENST00000355395,p.R110W|ENST00000554599,p.R110W	protein_coding, processed_transcript	uc021sgi.1	nonsynonymous SNV	exon6	c.C328T	p.R110W	VFFRQSWKDERLRFKGPMQRLPLNN	VFFRQSWKDERLWFKGPMQRLPLNN	1.0	4.0	-	-	4081_15:27128535-27128535 C>T_VFFRQSWKDERLWFKGPMQRLPLNN
12:57457893-57457893 A>C	0.0	4081	COLORECTAL	-	-	-	-	TMEM194A	ENST00000379391,p.L166V|NM_001130963,p.L239V|NM_015257,p.L166V|ENST00000300128,p.L239V|uc001smy.3,p.L239V|uc001smx.3,p.L166V	protein_coding, processed_transcript, nonsense_mediated_decay	uc001smy.3	nonsynonymous SNV	exon6	c.T715G	p.L239V	FSLYLIQLVFKNLQEIWRCYWQYLL	FSLYLIQLVFKNVQEIWRCYWQYLL	4.0	6.0	-	-	4081_12:57457893-57457893 A>C_FSLYLIQLVFKNVQEIWRCYWQYLL
11:61549105-61549105 C>T	0.0	4081	COLORECTAL	-	-	-	-	MYRF	ENST00000389602,p.S333L|uc010rll.1,p.S333L|uc001nse.1,p.S907L|uc001nsc.1,p.S942L|ENST00000265460,p.S907L|NM_013279,p.S907L|ENST00000278836,p.S942L|NM_001127392,p.S942L	retained_intron, protein_coding	uc010rll.1	nonsynonymous SNV	exon10	c.C998T	p.S333L	PVTNIRAKSWGLSVNGIGHSKHHKS	PVTNIRAKSWGLLVNGIGHSKHHKS	3.0	7.0	-	-	4081_11:61549105-61549105 C>T_PVTNIRAKSWGLLVNGIGHSKHHKS
2:137814211-137814211 C>T	0.0	4081	COLORECTAL	-	-	ID=COSM3116656,COSM3116657;OCCURENCE=1(central_nervous_system)	-	THSD7B	ENST00000413152,p.R90C|ENST00000409968,p.R121C|ENST00000272643,p.R121C|uc002tva.1,p.R90C	retained_intron, protein_coding, processed_transcript	uc002tva.1	nonsynonymous SNV	exon2	c.C268T	p.R90C	SDWHHCVLVPYARGEVKPRTAECVT	SDWHHCVLVPYACGEVKPRTAECVT	1.0	8.0	-	-	4081_2:137814211-137814211 C>T_SDWHHCVLVPYACGEVKPRTAECVT
1:158627473-158627473 C>A	0.0	4081	COLORECTAL	-	-	-	-	SPTA1	ENST00000368148,p.A867S|uc001fst.1,p.A867S|ENST00000368147,p.A867S|NM_003126,p.A867S	protein_coding, processed_transcript	uc001fst.1	nonsynonymous SNV	exon19	c.G2599T	p.A867S	RGNKMVEEGHFAAEDVASRVKSLNQ	RGNKMVEEGHFASEDVASRVKSLNQ	1.0	10.0	-	-	4081_1:158627473-158627473 C>A_RGNKMVEEGHFASEDVASRVKSLNQ
13:39262582-39262600 GGGCTACTTGGTGAGCACC>-	0.0	4081	COLORECTAL	-	-	-	-	FREM2	NM_207361,p.Q367fs|ENST00000280481,p.Q367fs|uc001uwv.3,p.Q367fs	protein_coding, processed_transcript	uc001uwv.3	frameshift deletion	exon1	c.1101_1119del	p.Q367fs	LIFNLTSPFQPGQGYLVSTDDRSLP	LIFNLTSPFQPGQMIAACPFPPSLRGICGS	4.0	5.0	-	-	4081_13:39262582-39262600 GGGCTACTTGGTGAGCACC>-_LIFNLTSPFQPGQMIAACPFPPSLRGICGS
19:57175647-57175647 G>A	0.0	4081	COLORECTAL	-	-	-	-	ZNF835	uc031rne.1,p.T307M|NM_001005850,p.T307M|ENST00000537055,p.T307M|uc010ygn.2,p.T307M	protein_coding	uc031rne.1	nonsynonymous SNV	exon1	c.C920T	p.T307M	QHRRVHTGEKPYTCQDCGALFSQSA	QHRRVHTGEKPYMCQDCGALFSQSA	1.0	9.0	-	-	4081_19:57175647-57175647 G>A_QHRRVHTGEKPYMCQDCGALFSQSA
5:178392781-178392781 A>T	0.0	4081	COLORECTAL	-	-	-	-	ZNF454	uc003mjo.2,p.K459M|uc010jkz.2,p.K459M|NM_001178089,p.K459M|ENST00000320129,p.K459M|ENST00000519564,p.K459M|NM_001178090,p.K459M|NM_182594,p.K459M|uc021yjc.1,p.K459M	retained_intron, protein_coding	uc021yjc.1	nonsynonymous SNV	exon5	c.A1376T	p.K459M	KAFSDHSALTQHKRIHTREKPYKCK	KAFSDHSALTQHMRIHTREKPYKCK	4.0	3.0	-	-	4081_5:178392781-178392781 A>T_KAFSDHSALTQHMRIHTREKPYKCK
2:210558114-210558114 T>G	0.0	4081	COLORECTAL	-	-	-	-	MAP2	uc002vde.1,p.V407G|ENST00000445941,p.V489G|uc002vdc.1,p.V407G|ENST00000447185,p.V403G|uc002vdi.1,p.V403G|NM_002374,p.V407G|ENST00000360351,p.V407G	retained_intron, protein_coding, processed_transcript	uc002vdi.1	nonsynonymous SNV	exon4	c.T1208G	p.V403G	HIPVVEEHVMGKVLEEEKEAINQET	HIPVVEEHVMGKGLEEEKEAINQET	5.0	1.0	-	-	4081_2:210558114-210558114 T>G_HIPVVEEHVMGKGLEEEKEAINQET
12:4479739-4479739 G>A	0.0	4081	COLORECTAL	-	-	ID=COSM3935948;OCCURENCE=1(oesophagus)	-	FGF23	ENST00000237837,p.R176W|uc001qmq.1,p.R176W|NM_020638,p.R176W	protein_coding	uc001qmq.1	nonsynonymous SNV	exon3	c.C526T	p.R176W	IPLIHFNTPIPRRHTRSAEDDSERD	IPLIHFNTPIPRWHTRSAEDDSERD	1.0	10.0	-	-	4081_12:4479739-4479739 G>A_IPLIHFNTPIPRWHTRSAEDDSERD
1:158651363-158651363 T>C	0.0	4081	COLORECTAL	-	-	-	-	SPTA1	ENST00000368148,p.Q162R|NM_003126,p.Q162R|ENST00000368147,p.Q162R|uc001fst.1,p.Q162R	protein_coding, processed_transcript	uc001fst.1	nonsynonymous SNV	exon4	c.A485G	p.Q162R	KGDQLLRALKFQQYVQECADILEWI	KGDQLLRALKFQRYVQECADILEWI	1.0	2.0	unscreened	-	4081_1:158651363-158651363 T>C_KGDQLLRALKFQRYVQECADILEWI
6:136597198-136597198 T>C	1.0	4081	COLORECTAL	-	-	-	2	BCLAF1	NM_014739,p.T489A|uc003qgx.1,p.T489A|ENST00000531224,p.T489A|ENST00000527536,p.T489A|ENST00000527759,p.T487A|ENST00000529826,p.T489A|uc003qgy.1,p.T487A|ENST00000353331,p.T487A|ENST00000530429,p.T487A|ENST00000527613,p.T489A|uc011ede.1,p.T487A|NM_001301038,p.T487A|ENST00000392348,p.T487A|NM_001077440,p.T487A|ENST00000532384,p.T489A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ede.1	nonsynonymous SNV	exon5	c.A1459G	p.T487A	KHKEEDKNSERITVKKETQSPEQVK	KHKEEDKNSERIAVKKETQSPEQVK	10.0	2.0	-	-	4081_6:136597198-136597198 T>C_KHKEEDKNSERIAVKKETQSPEQVK
9:141010080-141010080 G>A	0.0	4081	COLORECTAL	-	-	-	-	CACNA1B	uc031tfz.1,p.R1909Q|uc004coi.3,p.R1121Q|NM_000718,p.R1909Q|NM_001243812,p.R1909Q|ENST00000371357,p.R1908Q|ENST00000277549,p.R1103Q|ENST00000277551,p.R1909Q|ENST00000371372,p.R1909Q|ENST00000371363,p.R1907Q|uc031tfy.1,p.R1909Q|ENST00000371355,p.R1910Q	protein_coding	uc031tfz.1	nonsynonymous SNV	exon42	c.G5726A	p.R1909Q	LEQTQPAVLRGARVFLRQKSSTSLS	LEQTQPAVLRGAQVFLRQKSSTSLS	1.0	8.0	-	-	4081_9:141010080-141010080 G>A_LEQTQPAVLRGAQVFLRQKSSTSLS
1:34090130-34090130 C>T	0.0	4081	COLORECTAL	-	-	-	-	CSMD2	uc001bxo.1,p.A745T|NM_001281956,p.A1872T|uc001bxn.1,p.A1832T|NM_052896,p.A1832T|ENST00000373380,p.A745T|ENST00000241312,p.A1832T|uc001bxm.1,p.A1872T|ENST00000373381,p.A1872T	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxo.1	nonsynonymous SNV	exon14	c.G2233A	p.A745T	LNCVWKIVVPEGAGIQIQVVSFVTE	LNCVWKIVVPEGTGIQIQVVSFVTE	2.0	8.0	-	-	4081_1:34090130-34090130 C>T_LNCVWKIVVPEGTGIQIQVVSFVTE
10:72434617-72434617 C>A	0.0	4081	COLORECTAL	-	-	-	-	ADAMTS14	NM_080722,p.P130T|uc001jrg.3,p.P130T|ENST00000373208,p.P130T|NM_139155,p.P130T|uc001jrh.3,p.P130T|ENST00000373207,p.P130T	protein_coding	uc001jrh.3	nonsynonymous SNV	exon2	c.C388A	p.P130T	HLRLRPNRRLVVPGSSVEWQEDFRE	HLRLRPNRRLVVTGSSVEWQEDFRE	5.0	2.0	unscreened	-	4081_10:72434617-72434617 C>A_HLRLRPNRRLVVTGSSVEWQEDFRE
1:206328818-206328818 G>T	0.0	4081	COLORECTAL	-	-	-	-	CTSE	ENST00000358184,p.K295N|uc001hdu.3,p.K295N|NM_001910,p.K295N|ENST00000361052,p.K300N	protein_coding, processed_transcript	uc001hdu.3	nonsynonymous SNV	exon7	c.G885T	p.K295N	GTSLITGPSDKIKQLQNAIGAAPVD	GTSLITGPSDKINQLQNAIGAAPVD	3.0	1.0	unscreened	-	4081_1:206328818-206328818 G>T_GTSLITGPSDKINQLQNAIGAAPVD
19:52941011-52941011 G>A	0.0	4081	COLORECTAL	-	-	-	-	ZNF534	NM_001143938,p.A100T|NM_001143939,p.A113T|ENST00000332323,p.A113T|uc002pzl.3,p.A100T|uc002pzk.3,p.A113T|ENST00000433050,p.A100T	protein_coding	uc002pzl.3	nonsynonymous SNV	exon4	c.G298A	p.A100T	VNTEKSSKLGSSAGNKSLKNQHGLT	VNTEKSSKLGSSTGNKSLKNQHGLT	1.0	5.0	-	-	4081_19:52941011-52941011 G>A_VNTEKSSKLGSSTGNKSLKNQHGLT
5:1878820-1878827 GCTCGCAC>-	0.0	4081	COLORECTAL	-	-	-	-	IRX4	uc031sip.1,p.A272fs|uc031sir.1,p.A272fs|NM_001278633,p.A298fs|ENST00000505790,p.A272fs|uc011cmf.2,p.A133fs|NM_001278632,p.A272fs|ENST00000231357,p.A272fs|uc031sio.1,p.A298fs|uc031siq.1,p.A298fs|NM_001278635,p.A298fs|ENST00000513692,p.A272fs|NM_016358,p.A272fs|uc003jcz.2,p.A272fs|NM_001278634,p.A272fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc031sir.1	frameshift deletion	exon6	c.816_823del	p.A272fs	LDDFDPLEAEPPACELKPPFHSLDG	LDDFDPLEAEPPAEAALPLPGRRSGARPRRARRPGQGGLRRAPDVSGRGWRSCSGRGPGEGPELSPQRGGRAGATAGRRGRPSGLRGQAGVCAGGGVGRPGG	1.0	7.0	-	-	4081_5:1878820-1878827 GCTCGCAC>-_LDDFDPLEAEPPAEAALPLPGRRSGARPRRARRPGQGGLRRAPDVSGRGWRSCSGRGPGEGPELSPQRGGRAGATAGRRGRPSGLRGQAGVCAGGGVGRPGG
14:21990236-21990236 C>T	0.0	4081	COLORECTAL	-	-	-	-	SALL2	uc010tlz.1,p.G876E|uc010tma.1,p.G878E|NM_001291447,p.G876E|ENST00000450879,p.G876E|NM_001291446,p.G878E	protein_coding	uc010tma.1	nonsynonymous SNV	exon4	c.G2633A	p.G878E	LGTVAGKVPPTMGSREAKEKTAPLL	LGTVAGKVPPTMESREAKEKTAPLL	2.0	1.0	unscreened	-	4081_14:21990236-21990236 C>T_LGTVAGKVPPTMESREAKEKTAPLL
3:122942526-122942526 G>A	0.0	4081	COLORECTAL	-	-	-	-	SEC22A	NM_012430,p.M101I|ENST00000473494,p.M101I|uc003egf.3,p.M101I|ENST00000487572,p.M101I|uc003ege.3,p.M101I|ENST00000480631,p.M101I|ENST00000492595,p.M101I|ENST00000309934,p.M101I	protein_coding, processed_transcript, nonsense_mediated_decay	uc003egf.3	nonsynonymous SNV	exon2	c.G303A	p.M101I	ELQKEFITTYNMMKTNTAVRPYCFI	ELQKEFITTYNMIKTNTAVRPYCFI	4.0	7.0	-	-	4081_3:122942526-122942526 G>A_ELQKEFITTYNMIKTNTAVRPYCFI
2:179614516-179614516 T>G	0.0	4081	COLORECTAL	-	-	-	-	TTN	ENST00000360870,p.K4204T|uc002unb.3,p.K4204T|NM_133379,p.K4204T	retained_intron, protein_coding	uc002unb.3	nonsynonymous SNV	exon46	c.A12611C	p.K4204T	WFQNGVLLKQNQKFQFEEVNCSHQL	WFQNGVLLKQNQTFQFEEVNCSHQL	1.0	2.0	unscreened	-	4081_2:179614516-179614516 T>G_WFQNGVLLKQNQTFQFEEVNCSHQL
2:237233383-237233383 G>A	0.0	4081	COLORECTAL	-	-	-	-	IQCA1	uc002vwb.3,p.A814V|uc010zni.2,p.A765V|NM_024726,p.A806V|NM_001270584,p.A765V|ENST00000309507,p.A803V|uc002vvz.2,p.A806V|ENST00000431676,p.A765V|ENST00000409907,p.A806V|NM_001270585,p.A814V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zni.2	nonsynonymous SNV	exon18	c.C2294T	p.A765V	YAKTPLGKKRALAITGGSTEKAKDK	YAKTPLGKKRALVITGGSTEKAKDK	2.0	5.0	-	-	4081_2:237233383-237233383 G>A_YAKTPLGKKRALVITGGSTEKAKDK
11:120984328-120984328 G>A	0.0	4081	COLORECTAL	-	-	-	-	TECTA	uc010rzo.2,p.V231M|ENST00000392793,p.V231M|ENST00000264037,p.V231M|NM_005422,p.V231M	protein_coding, processed_transcript	uc010rzo.2	nonsynonymous SNV	exon5	c.G691A	p.V231M	FFSLPGSRTPEIVNIQETTNVNVPG	FFSLPGSRTPEIMNIQETTNVNVPG	2.0	4.0	-	-	4081_11:120984328-120984328 G>A_FFSLPGSRTPEIMNIQETTNVNVPG
17:56353006-56353006 C>T	0.0	4081	COLORECTAL	-	-	-	-	MPO	ENST00000225275,p.R421Q|NM_000250,p.R421Q|uc002ivu.1,p.R421Q|ENST00000340482,p.R453Q	retained_intron, protein_coding, processed_transcript	uc002ivu.1	nonsynonymous SNV	exon8	c.G1262A	p.R421Q	MPELTSMHTLLLREHNRLATELKSL	MPELTSMHTLLLQEHNRLATELKSL	1.0	4.0	-	-	4081_17:56353006-56353006 C>T_MPELTSMHTLLLQEHNRLATELKSL
X:10174416-10174416 G>T	0.0	4081	COLORECTAL	-	-	-	-	CLCN4	uc011mid.3,p.G98C|NM_001256944,p.G98C|uc004csy.4,p.G192C|ENST00000380829,p.G192C|ENST00000380833,p.G192C|NM_001830,p.G192C|ENST00000421085,p.G98C	protein_coding	uc011mid.3	nonsynonymous SNV	exon5	c.G292T	p.G98C	GSGIPEIKTILSGFIIRGYLGKWTL	GSGIPEIKTILSCFIIRGYLGKWTL	3.0	6.0	-	-	4081_X:10174416-10174416 G>T_GSGIPEIKTILSCFIIRGYLGKWTL
7:114304422-114304422 T>G	0.0	4081	COLORECTAL	-	-	-	-	FOXP2	NM_001172766,p.L644R|ENST00000393494,p.L645R|ENST00000408937,p.L670R|uc003vha.3,p.L553R|ENST00000393489,p.L553R|uc003vgz.3,p.L670R|uc011kmv.2,p.L644R|ENST00000403559,p.L662R|ENST00000393491,p.L460R|ENST00000393498,p.L624R|ENST00000350908,p.L645R|NM_148898,p.L670R|NM_148900,p.L662R|uc003vhb.3,p.L645R|uc011kmu.2,p.L662R|uc010ljz.2,p.L460R|NM_014491,p.L645R	protein_coding, processed_transcript, nonsense_mediated_decay	uc011kmv.2	nonsynonymous SNV	exon16	c.T1931G	p.L644R	ASSGLLQAVHEDLNGSLDHIDSNGN	ASSGLLQAVHEDRNGSLDHIDSNGN	2.0	2.0	-	-	4081_7:114304422-114304422 T>G_ASSGLLQAVHEDRNGSLDHIDSNGN
7:121741426-121741426 T>C	0.0	4081	COLORECTAL	-	-	-	-	AASS	uc003vka.3,p.R469G|ENST00000393376,p.R469G|ENST00000431170,p.R469G|ENST00000358954,p.R469G|NM_005763,p.R469G|ENST00000417368,p.R469G|uc003vkb.3,p.R469G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vkb.3	nonsynonymous SNV	exon13	c.A1405G	p.R469G	DKYKYIQTLRESRERAQSLSMGTRR	DKYKYIQTLRESGERAQSLSMGTRR	3.0	8.0	-	-	4081_7:121741426-121741426 T>C_DKYKYIQTLRESGERAQSLSMGTRR
1:243581375-243581375 C>A	0.0	4081	COLORECTAL	-	-	-	-	SDCCAG8	ENST00000366541,p.T617N|NM_006642,p.T617N|uc001hzw.3,p.T617N|uc010pyl.2,p.T429N|uc010pyk.2,p.T472N|ENST00000343783,p.T472N|ENST00000355875,p.T574N	protein_coding, processed_transcript	uc010pyl.2	nonsynonymous SNV	exon11	c.C1286A	p.T429N	TLAKKLEQISQKTRSEIAQLSQEKR	TLAKKLEQISQKNRSEIAQLSQEKR	8.0	5.0	-	-	4081_1:243581375-243581375 C>A_TLAKKLEQISQKNRSEIAQLSQEKR
19:41930509-41930509 A>C	0.0	4081	COLORECTAL	-	-	-	-	BCKDHA	ENST00000457836,p.K448T|uc002oqq.3,p.K445T|ENST00000595085,p.K479T|uc002oqm.4,p.K479T|uc010xvz.2,p.K448T|NM_001164783,p.K444T|NM_000709,p.K445T|ENST00000540732,p.K479T|ENST00000269980,p.K445T|uc002oqr.3,p.K444T	 protein_coding, processed_transcript,retained_intron	uc010xvz.2	nonsynonymous SNV	exon9	c.A1343C	p.K448T	TYGEHYPLDHFDK	TYGEHYPLDHFDT	5.0	3.0	-	-	4081_19:41930509-41930509 A>C_TYGEHYPLDHFDT
2:210809796-210809796 A>T	0.0	4081	COLORECTAL	-	-	-	-	UNC80	NM_032504,p.S2292C|ENST00000439458,p.S2292C|ENST00000272845,p.S2287C|NM_182587,p.S2287C|uc021vvx.1,p.S2287C|uc010zjc.1,p.S2292C|uc002vdk.2,p.S1453C	retained_intron, protein_coding, processed_transcript	uc021vvx.1	nonsynonymous SNV	exon45	c.A6859T	p.S2287C	LLEFPDAANNGPSKGVSAQCLFDLL	LLEFPDAANNGPCKGVSAQCLFDLL	1.0	3.0	-	-	4081_2:210809796-210809796 A>T_LLEFPDAANNGPCKGVSAQCLFDLL
14:71435811-71435811 A>C	0.0	4081	COLORECTAL	-	-	-	-	PCNX	uc001xmo.2,p.E196D|NM_014982,p.E196D|ENST00000304743,p.E196D|ENST00000439984,p.E196D|uc010are.1,p.E196D|ENST00000238570,p.E196D|uc001xmn.4,p.E196D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010are.1	nonsynonymous SNV	exon5	c.A588C	p.E196D	SLSLGQSSSLCKEGSEEQDLAADRK	SLSLGQSSSLCKDGSEEQDLAADRK	9.0	3.0	-	-	4081_14:71435811-71435811 A>C_SLSLGQSSSLCKDGSEEQDLAADRK
2:100194858-100194858 G>A	0.0	4081	COLORECTAL	-	-	ID=COSM2979630;OCCURENCE=1(large_intestine)	1	AFF3	NM_001025108,p.T975M|ENST00000409236,p.T950M|uc002tag.3,p.T950M|NM_002285,p.T950M|ENST00000317233,p.T950M|ENST00000409579,p.T975M|ENST00000356421,p.T975M|uc002taf.3,p.T975M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tag.3	nonsynonymous SNV	exon17	c.C2849T	p.T950M	SENIPLHKSRPQTKPWSPGSNGHRD	SENIPLHKSRPQMKPWSPGSNGHRD	3.0	5.0	-	-	4081_2:100194858-100194858 G>A_SENIPLHKSRPQMKPWSPGSNGHRD
7:50132748-50132748 G>C	0.0	4081	COLORECTAL	-	-	-	-	ZPBP	uc010kyw.3,p.R15G|ENST00000046087,p.R15G|ENST00000413331,p.R15G|uc003tou.3,p.R15G|NM_001159878,p.R15G|NM_007009,p.R15G|ENST00000419417,p.R15G	protein_coding, processed_transcript, nonsense_mediated_decay	uc010kyw.3	nonsynonymous SNV	exon1	c.C43G	p.R15G	AFALGPARRGRRRTRAAGSLLSRAA	AFALGPARRGRRGTRAAGSLLSRAA	1.0	6.0	-	-	4081_7:50132748-50132748 G>C_AFALGPARRGRRGTRAAGSLLSRAA
1:222904854-222904854 A>G	0.0	4081	COLORECTAL	-	-	-	-	BROX	uc010put.1,p.D350G|NM_144695,p.D382G|uc001hnq.1,p.D382G|ENST00000340934,p.D382G|NM_001288579,p.D350G|ENST00000539697,p.D350G|NM_001288580,p.D350G|uc010puv.1,p.D350G	protein_coding, processed_transcript	uc010puv.1	nonsynonymous SNV	exon11	c.A1049G	p.D350G	LAAFDLTKRPKDDSTKPKPEEEVKP	LAAFDLTKRPKDGSTKPKPEEEVKP	6.0	3.0	-	-	4081_1:222904854-222904854 A>G_LAAFDLTKRPKDGSTKPKPEEEVKP
15:101970192-101970192 T>C	0.0	4081	COLORECTAL	-	-	-	-	PCSK6	uc010bpd.3,p.K115R|ENST00000348070,p.K244R|ENST00000358417,p.K244R|ENST00000398185,p.K147R|ENST00000331826,p.K79R|ENST00000344273,p.K244R|ENST00000398181,p.K244R	retained_intron, protein_coding, processed_transcript	uc010bpd.3	nonsynonymous SNV	exon4	c.A344G	p.K115R	DPSPRYDASNENKHGTRCAGEVAAS	DPSPRYDASNENRHGTRCAGEVAAS	6.0	6.0	-	-	4081_15:101970192-101970192 T>C_DPSPRYDASNENRHGTRCAGEVAAS
11:65293738-65293751 TCCCCGCAAGGGGA>-	0.0	4081	COLORECTAL	-	-	-	-	SCYL1	NM_020680,p.P173fs|NM_001048218,p.P173fs|ENST00000525364,p.P173fs|uc001oea.1,p.P173fs|ENST00000420247,p.P173fs|uc009yqk.3,p.P173fs|ENST00000527009,p.P30fs|ENST00000279270,p.P173fs|ENST00000270176,p.P173fs|ENST00000533862,p.P173fs|uc001oec.1,p.P173fs|uc001oeb.1,p.P173fs|ENST00000524944,p.P173fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009yqk.3	frameshift deletion	exon4	c.519_532del	p.P173fs	DYMYSAQGNGGGPPRKGIPELEQYD	DYMYSAQGNGGGPPRA	9.0	4.0	-	-	4081_11:65293738-65293751 TCCCCGCAAGGGGA>-_DYMYSAQGNGGGPPRA
2:203831758-203831758 ->A	0.0	4081	COLORECTAL	-	-	-	-	CARF	ENST00000402905,p.L297fs|ENST00000438828,p.L297fs|uc002uzp.2,p.L297fs|NM_001104586,p.L297fs|ENST00000414439,p.L195fs|ENST00000422368,p.L267fs|ENST00000545253,p.L209fs|NM_024744,p.L297fs|uc010zic.1,p.L209fs|uc002uzo.2,p.L297fs|ENST00000428585,p.L221fs|NM_001282910,p.L221fs|NM_001282911,p.L221fs|ENST00000545262,p.L221fs|NM_001282912,p.L209fs|ENST00000320443,p.L297fs|uc010zib.1,p.L221fs|uc010zia.1,p.L221fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zic.1	frameshift insertion	exon7	c.627dupA	p.L209fs	ECQYGPRRKGFQLKKVSEQESRSCQ	ECQYGPRRKGFQLKKSQ	4.0	8.0	-	-	4081_2:203831758-203831758 ->A_ECQYGPRRKGFQLKKSQ
15:63926964-63926967 CTCT>-	0.0	4081	COLORECTAL	-	-	-	-	HERC1	uc002amp.3,p.R4179fs|ENST00000443617,p.R4179fs|NM_003922,p.R4179fs	retained_intron, protein_coding, nonsense_mediated_decay	uc002amp.3	frameshift deletion	exon66	c.12535_12538del	p.R4179fs	GLGNTSNKKLPERVTALEGYQIGQV	GLGNTSNKKLPE	8.0	9.0	unscreened	-	4081_15:63926964-63926967 CTCT>-_GLGNTSNKKLPE
1:231473431-231473431 C>T	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	EXOC8	uc001huq.3,p.G21S|ENST00000360394,p.G21S|NM_175876,p.G21S|ENST00000366645,p.G17S	protein_coding	uc001huq.3	nonsynonymous SNV	exon1	c.G61A	p.G21S	GASRLRRQLESGGFEARLYVKQLSQ	GASRLRRQLESGSFEARLYVKQLSQ	7.0	6.0	-	-	4110_1:231473431-231473431 C>T_GASRLRRQLESGSFEARLYVKQLSQ
5:64037022-64037022 G>A	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	SREK1IP1	ENST00000513458,p.H23Y|uc003jtk.3,p.H23Y|NM_173829,p.H23Y	retained_intron, protein_coding, processed_transcript	uc003jtk.3	nonsynonymous SNV	exon3	c.C67T	p.H23Y	VRAGCKKCGYPGHLTFECRNFLRVD	VRAGCKKCGYPGYLTFECRNFLRVD	9.0	10.0	-	-	4110_5:64037022-64037022 G>A_VRAGCKKCGYPGYLTFECRNFLRVD
3:182602642-182602642 T>C	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	ATP11B	uc003flc.3,p.Y455H|ENST00000482070,p.Y106H|ENST00000323116,p.Y871H|uc011bqm.1,p.Y175H|uc003flb.3,p.Y871H|uc010hxf.1,p.Y33H|NM_014616,p.Y871H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bqm.1	nonsynonymous SNV	exon5	c.T523C	p.Y175H	FLSKLLFVHGHFYYIRIATLVQYFF	FLSKLLFVHGHFHYIRIATLVQYFF	8.0	7.0	-	-	4110_3:182602642-182602642 T>C_FLSKLLFVHGHFHYIRIATLVQYFF
20:62229123-62229123 C>T	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	GMEB2	uc002yfo.1,p.G72S|ENST00000370069,p.G99S|uc002yfp.1,p.G150S|ENST00000266068,p.G150S|NM_012384,p.G150S|uc002yfq.1,p.G150S|ENST00000370077,p.G150S	protein_coding	uc002yfq.1	nonsynonymous SNV	exon5	c.G448A	p.G150S	TLKDWKRAIRMNGIMLRKIMDSGEL	TLKDWKRAIRMNSIMLRKIMDSGEL	6.0	10.0	-	-	4110_20:62229123-62229123 C>T_TLKDWKRAIRMNSIMLRKIMDSGEL
17:79871662-79871662 G>A	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	SIRT7	NM_016538,p.P331L|ENST00000328666,p.P331L|uc002kcj.2,p.P331L	retained_intron, protein_coding, nonsense_mediated_decay	uc002kcj.2	nonsynonymous SNV	exon9	c.C992T	p.P331L	MRLLMAELGLEIPAYSRWQDPIFSL	MRLLMAELGLEILAYSRWQDPIFSL	7.0	7.0	-	-	4110_17:79871662-79871662 G>A_MRLLMAELGLEILAYSRWQDPIFSL
17:40024980-40024980 T>A	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	ACLY	ENST00000352035,p.R1065W|NM_198830,p.R1055W|ENST00000393896,p.R1055W|uc010wfx.2,p.R1109W|uc010wfy.2,p.R794W|ENST00000590151,p.R1065W|ENST00000353196,p.R1055W|uc002hyi.3,p.R1119W|uc002hyg.3,p.R1065W|NM_001096,p.R1065W|uc002hyh.3,p.R1055W|ENST00000537919,p.R794W	retained_intron, protein_coding, processed_transcript	uc010wfy.2	nonsynonymous SNV	exon20	c.A2380T	p.R794W	DIGALNGIFVLGRSMGFIGHYLDQK	DIGALNGIFVLGWSMGFIGHYLDQK	9.0	6.0	-	-	4110_17:40024980-40024980 T>A_DIGALNGIFVLGWSMGFIGHYLDQK
14:96848832-96848832 C>G	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	GSKIP	uc001yfj.5,p.A83G|NM_001271905,p.A83G|ENST00000555181,p.A83G|NM_016472,p.A83G|uc031qqe.1,p.A83G|ENST00000438650,p.A83G|uc031qqf.1,p.A83G|ENST00000556095,p.A83G|NM_001271906,p.A83G|ENST00000554182,p.A83G|NM_001271904,p.A83G|uc001yfl.4,p.A83G|ENST00000555757,p.A83G	retained_intron, protein_coding	uc031qqf.1	nonsynonymous SNV	exon2	c.C248G	p.A83G	KERNRYCLELTEAGLKVVGYAFDQV	KERNRYCLELTEGGLKVVGYAFDQV	10.0	4.0	unscreened	-	4110_14:96848832-96848832 C>G_KERNRYCLELTEGGLKVVGYAFDQV
11:67817178-67817178 A>G	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	TCIRG1	uc001one.3,p.I646V|NM_006053,p.I430V|NM_006019,p.I646V|ENST00000532635,p.I430V|uc001ong.3,p.I430V|ENST00000265686,p.I646V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ong.3	nonsynonymous SNV	exon11	c.A1288G	p.I430V	ATLVVLALAMVPILLLGTPLHLLHR	ATLVVLALAMVPVLLLGTPLHLLHR	9.0	6.0	-	-	4110_11:67817178-67817178 A>G_ATLVVLALAMVPVLLLGTPLHLLHR
3:38168043-38168043 T>C	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	ACAA1	uc003cht.3,p.K259E|NM_001130410,p.K226E|uc003chu.3,p.K226E|ENST00000544624,p.K107E|ENST00000450296,p.K218E|ENST00000301810,p.K226E|ENST00000333167,p.K259E|NM_001607,p.K259E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003chu.3	nonsynonymous SNV	exon7	c.A676G	p.K226E	GIRPSTTMEGLAKLKPAFKKDGSTT	GIRPSTTMEGLAELKPAFKKDGSTT	7.0	10.0	-	-	4110_3:38168043-38168043 T>C_GIRPSTTMEGLAELKPAFKKDGSTT
8:25293020-25293020 G>C	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	KCTD9	uc003xeo.3,p.N224K|NM_017634,p.N224K|ENST00000221200,p.N224K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xeo.3	nonsynonymous SNV	exon9	c.C672G	p.N224K	TPTKSELRCQGLNFSGADLSRLDLR	TPTKSELRCQGLKFSGADLSRLDLR	9.0	9.0	-	-	4110_8:25293020-25293020 G>C_TPTKSELRCQGLKFSGADLSRLDLR
1:91985800-91985800 G>A	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	CDC7	uc010osw.2,p.G404R|NM_001134420,p.G432R|ENST00000428239,p.G432R|ENST00000234626,p.G432R|ENST00000430031,p.G404R|uc001dof.3,p.G432R|NM_001134419,p.G432R|uc009wdc.3,p.G432R|uc001doe.3,p.G432R|NM_003503,p.G432R	protein_coding, processed_transcript	uc010osw.2	nonsynonymous SNV	exon10	c.G1210A	p.G404R	DLTALAQIMTIRGSRETIQAAKTFG	DLTALAQIMTIRRSRETIQAAKTFG	8.0	7.0	-	-	4110_1:91985800-91985800 G>A_DLTALAQIMTIRRSRETIQAAKTFG
19:34959959-34959959 G>A	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	UBA2	ENST00000439527,p.D490N|uc002nvk.3,p.D586N|ENST00000592791,p.D112N|uc002nvl.3,p.D490N|NM_005499,p.D586N|ENST00000246548,p.D586N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nvl.3	nonsynonymous SNV	exon17	c.G1468A	p.D490N	AQPSTSTAQEQDDVLIVDSDEEDSS	AQPSTSTAQEQDNVLIVDSDEEDSS	10.0	7.0	unscreened	-	4110_19:34959959-34959959 G>A_AQPSTSTAQEQDNVLIVDSDEEDSS
X:128630792-128630792 A>C	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	SMARCA1	ENST00000371121,p.Y521D|uc004eup.4,p.Y521D|NM_001282875,p.Y521D|ENST00000371122,p.Y521D|uc004eun.4,p.Y521D|uc011muk.1,p.Y521D|ENST00000371123,p.Y521D|uc011mul.1,p.Y521D|NM_003069,p.Y521D|ENST00000450039,p.Y500D|NM_001282874,p.Y521D	protein_coding, processed_transcript	uc011mul.1	nonsynonymous SNV	exon12	c.T1561G	p.Y521D	SQMTRLLDILEDYCMWRGYEYCRLD	SQMTRLLDILEDDCMWRGYEYCRLD	8.0	10.0	-	-	4110_X:128630792-128630792 A>C_SQMTRLLDILEDDCMWRGYEYCRLD
17:44771997-44771997 C>T	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	NSF	ENST00000398238,p.A448V|uc010wkg.2,p.A443V|uc010wkf.2,p.A354V|ENST00000575068,p.A443V|uc010wke.2,p.A354V|ENST00000225282,p.A354V|NM_006178,p.A448V|uc002iku.3,p.A448V	retained_intron, protein_coding, nonsense_mediated_decay	uc010wkg.2	nonsynonymous SNV	exon11	c.C1328T	p.A443V	FSGAELEGLVRAAQSTAMNRHIKAS	FSGAELEGLVRAVQSTAMNRHIKAS	9.0	2.0	unscreened	-	4110_17:44771997-44771997 C>T_FSGAELEGLVRAVQSTAMNRHIKAS
17:79873535-79873535 C>T	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	SIRT7	ENST00000328666,p.R120Q|uc002kcj.2,p.R120Q|NM_016538,p.R120Q	retained_intron, protein_coding, nonsense_mediated_decay	uc002kcj.2	nonsynonymous SNV	exon4	c.G359A	p.R120Q	AGISTAASIPDYRGPNGVWTLLQKG	AGISTAASIPDYQGPNGVWTLLQKG	7.0	9.0	-	-	4110_17:79873535-79873535 C>T_AGISTAASIPDYQGPNGVWTLLQKG
7:26224505-26224505 C>T	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	NFE2L3	ENST00000056233,p.S396L|NM_004289,p.S396L|uc003sxq.3,p.S396L	protein_coding	uc003sxq.3	nonsynonymous SNV	exon4	c.C1187T	p.S396L	LDINIFDEINLMSLATEDNFDPIDV	LDINIFDEINLMLLATEDNFDPIDV	8.0	8.0	-	-	4110_7:26224505-26224505 C>T_LDINIFDEINLMLLATEDNFDPIDV
19:34960094-34960094 G>A	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	UBA2	ENST00000246548,p.E631K|NM_005499,p.E631K|ENST00000592791,p.E157K|ENST00000439527,p.E535K|uc002nvk.3,p.E631K|uc002nvl.3,p.E535K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nvl.3	nonsynonymous SNV	exon17	c.G1603A	p.E535K	NLSAKRSRIEQKEELDDVIALD	NLSAKRSRIEQKKELDDVIALD	10.0	6.0	unscreened	-	4110_19:34960094-34960094 G>A_NLSAKRSRIEQKKELDDVIALD
1:85124002-85124002 T>A	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	SSX2IP	uc001dki.3,p.Q359H|NM_001166293,p.Q359H|uc001dkj.3,p.Q359H|uc010orz.2,p.Q332H|NM_001166294,p.Q332H|ENST00000342203,p.Q359H|ENST00000437941,p.Q332H|ENST00000605755,p.Q332H|ENST00000476905,p.Q355H|NM_001166295,p.Q332H|ENST00000370612,p.Q359H|uc001dkf.3,p.Q332H|ENST00000481102,p.Q359H|uc001dkh.3,p.Q359H|uc010osa.2,p.Q332H|NM_001166417,p.Q359H|uc001dkk.1,p.Q355H|NM_014021,p.Q359H	protein_coding, processed_transcript, nonsense_mediated_decay	uc010osa.2	nonsynonymous SNV	exon8	c.A996T	p.Q332H	RILKSHVEKLDNQVSKVHLEGFNDE	RILKSHVEKLDNHVSKVHLEGFNDE	9.0	7.0	-	-	4110_1:85124002-85124002 T>A_RILKSHVEKLDNHVSKVHLEGFNDE
19:34960103-34960103 G>A	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	UBA2	uc002nvk.3,p.D634N|ENST00000439527,p.D538N|uc002nvl.3,p.D538N|ENST00000246548,p.D634N|ENST00000592791,p.D160N|NM_005499,p.D634N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nvl.3	nonsynonymous SNV	exon17	c.G1612A	p.D538N	AKRSRIEQKEELDDVIALD	AKRSRIEQKEELNDVIALD	10.0	6.0	unscreened	-	4110_19:34960103-34960103 G>A_AKRSRIEQKEELNDVIALD
7:115889146-115889146 A>T	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	TES	uc003vho.3,p.K62N|uc010lka.2,p.K53N|NM_152829,p.K53N|NM_015641,p.K62N|ENST00000358204,p.K62N|ENST00000393481,p.K53N|uc011kmx.2,p.K62N|uc003vhp.3,p.K53N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kmx.2	nonsynonymous SNV	exon3	c.A186T	p.K62N	EHDVLLSNEEDRKVGKLFEDTKYTT	EHDVLLSNEEDRNVGKLFEDTKYTT	10.0	6.0	CD8	-	4110_7:115889146-115889146 A>T_EHDVLLSNEEDRNVGKLFEDTKYTT
5:159463800-159463800 G>A	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	TTC1	NM_001282500,p.R165K|ENST00000231238,p.R165K|uc003lxu.3,p.R165K|ENST00000522793,p.R165K|NM_003314,p.R165K	retained_intron, protein_coding, processed_transcript	uc003lxu.3	nonsynonymous SNV	exon4	c.G494A	p.R165K	ERSILFSNRAAARMKQDKKEMAIND	ERSILFSNRAAAKMKQDKKEMAIND	10.0	2.0	unscreened	-	4110_5:159463800-159463800 G>A_ERSILFSNRAAAKMKQDKKEMAIND
1:89476740-89476740 A>C	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	GBP3	uc021opp.1,p.D376E|uc001dmt.3,p.D403E|uc010oss.2,p.D324E|uc001dmu.3,p.D269E|ENST00000370481,p.D403E|NM_018284,p.D403E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021opp.1	nonsynonymous SNV	exon8	c.T1128G	p.D376E	DDFCKQNQEASSDRCSALLQVIFSP	DDFCKQNQEASSERCSALLQVIFSP	10.0	1.0	unscreened	-	4110_1:89476740-89476740 A>C_DDFCKQNQEASSERCSALLQVIFSP
2:43800098-43800098 C>A	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	THADA	ENST00000402360,p.C588F|ENST00000403856,p.C588F|NM_022065,p.C588F|ENST00000405975,p.C588F|uc002rtd.3,p.C588F|NM_001083953,p.C588F|ENST00000415080,p.C298F|uc002rtc.4,p.C588F|ENST00000405006,p.C588F|ENST00000404790,p.C588F|uc002rsz.3,p.C298F|ENST00000402796,p.C171F|uc002rsx.4,p.C588F|ENST00000330266,p.C298F|uc002rta.2,p.C298F|uc002rtb.2,p.C588F|NM_001271643,p.C588F|NM_001271644,p.C588F|uc002rsw.4,p.C588F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002rtd.3	nonsynonymous SNV	exon13	c.G1763T	p.C588F	TGQEQSFPSLGSCNSRGALGALMAC	TGQEQSFPSLGSFNSRGALGALMAC	8.0	8.0	-	-	4110_2:43800098-43800098 C>A_TGQEQSFPSLGSFNSRGALGALMAC
9:139912342-139912342 A>G	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	ABCA2	uc011mem.1,p.V702A|ENST00000488535,p.V50A|ENST00000371605,p.V702A|ENST00000459850,p.V732A|ENST00000487109,p.V732A|ENST00000341511,p.V703A|ENST00000265662,p.V703A|NM_212533,p.V733A|uc004ckl.1,p.V633A|NM_001606,p.V703A|uc022bpz.1,p.V703A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022bpz.1	nonsynonymous SNV	exon16	c.T2108C	p.V703A	PYPCYTRDDFLFVIEHMMPLCMVIS	PYPCYTRDDFLFAIEHMMPLCMVIS	8.0	1.0	unscreened	-	4110_9:139912342-139912342 A>G_PYPCYTRDDFLFAIEHMMPLCMVIS
7:23180457-23180457 A>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	KLHL7	uc003svr.4,p.Q149L|ENST00000322231,p.Q149L|ENST00000409689,p.Q123L|ENST00000539124,p.Q95L|ENST00000545443,p.Q149L|ENST00000339077,p.Q171L|uc011jys.2,p.Q95L|NM_018846,p.Q123L|uc003svt.3,p.Q123L|uc003svs.4,p.Q171L|NM_001031710,p.Q171L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011jys.2	nonsynonymous SNV	exon4	c.A284T	p.Q95L	PELKATADDFIHQHFTEVYKTDEFL	PELKATADDFIHLHFTEVYKTDEFL	9.0	3.0	unscreened	-	4110_7:23180457-23180457 A>T_PELKATADDFIHLHFTEVYKTDEFL
13:103299628-103299628 C>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	TPP2	NM_003291,p.S854R|ENST00000376052,p.S854R|ENST00000376065,p.S854R|uc001vpi.4,p.S854R	protein_coding, processed_transcript	uc001vpi.4	nonsynonymous SNV	exon21	c.C2562A	p.S854R	LLCELLYESEFDSQLWIIFDQNKRQ	LLCELLYESEFDRQLWIIFDQNKRQ	8.0	1.0	unscreened	-	4110_13:103299628-103299628 C>A_LLCELLYESEFDRQLWIIFDQNKRQ
6:51920463-51920463 G>T	1.0	4110	CHOLANGIOCARCINOMA	-	-	ID=COSM1287171,COSM1287170;OCCURENCE=1(autonomic_ganglia)	-	PKHD1	uc003pai.3,p.F586L|ENST00000340994,p.F586L|NM_170724,p.F586L|NM_138694,p.F586L|ENST00000371117,p.F586L|uc003pah.1,p.F586L	protein_coding	uc003pai.3	nonsynonymous SNV	exon19	c.C1758A	p.F586L	DLTSGTEPFCGRFSLRQPRHLVLTP	DLTSGTEPFCGRLSLRQPRHLVLTP	7.0	8.0	-	-	4110_6:51920463-51920463 G>T_DLTSGTEPFCGRLSLRQPRHLVLTP
X:110968217-110968217 G>C	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	ALG13	NM_001099922,p.A553P|ENST00000394780,p.A553P|uc011msx.2,p.A449P|NM_001257234,p.A449P|NM_001257237,p.A449P|ENST00000251943,p.A449P|NM_001257231,p.A475P|uc011mta.2,p.A449P|uc011msz.2,p.A475P|uc011mtb.2,p.A449P|uc011msy.2,p.A553P|NM_001257230,p.A449P|ENST00000436609,p.A186P	protein_coding, processed_transcript	uc011mtb.2	nonsynonymous SNV	exon15	c.G1345C	p.A449P	NLKPVTQVMSVPAWNAMPSRKGRGY	NLKPVTQVMSVPPWNAMPSRKGRGY	10.0	7.0	-	-	4110_X:110968217-110968217 G>C_NLKPVTQVMSVPPWNAMPSRKGRGY
19:14626767-14626767 C>A	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	1	DNAJB1	uc010xnr.1,p.Q236H|ENST00000396969,p.Q236H|uc002myz.1,p.Q336H|ENST00000254322,p.Q336H|NM_006145,p.Q336H|NM_001300914,p.Q236H	retained_intron, protein_coding	uc010xnr.1	nonsynonymous SNV	exon4	c.G708T	p.Q236H	ERIPQTSRTVLEQVLPI	ERIPQTSRTVLEHVLPI	9.0	7.0	unscreened	-	4110_19:14626767-14626767 C>A_ERIPQTSRTVLEHVLPI
8:125487361-125487361 ->G	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	RNF139	ENST00000303545,p.V4fs|uc003yrc.3,p.V4fs|NM_007218,p.V4fs	protein_coding	uc003yrc.3	frameshift insertion	exon1	c.12dupG	p.V4fs	MAAVGPPQQQVRMAHQ	MAAVGAPAAAGADGPSAGLGGARSGAPGALPLHHRRHLQLLPGFQPKPVLHRAPDLPPALWCICIQYCSDLVTTITFQVLHVQLSLSVSCNFSVGELLCFFAH	9.0	3.0	unscreened	-	4110_8:125487361-125487361 ->G_MAAVGAPAAAGADGPSAGLGGARSGAPGALPLHHRRHLQLLPGFQPKPVLHRAPDLPPALWCICIQYCSDLVTTITFQVLHVQLSLSVSCNFSVGELLCFFAH
15:28436305-28436305 G>C	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	HERC2	NM_004667,p.P2846R|ENST00000261609,p.P2846R|uc001zbj.4,p.P2846R|uc001zbk.1,p.P381R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zbk.1	nonsynonymous SNV	exon9	c.C1142G	p.P381R	KMIVDPADSSYMPSLVVVSGGNSLN	KMIVDPADSSYMRSLVVVSGGNSLN	7.0	9.0	-	-	4110_15:28436305-28436305 G>C_KMIVDPADSSYMRSLVVVSGGNSLN
18:11888701-11888701 C>A	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	MPPE1	ENST00000317235,p.S179I|NM_023075,p.S179I|ENST00000309976,p.S179I|ENST00000399978,p.S179I|ENST00000344987,p.S179I|uc010dla.2,p.S179I|uc002kqf.3,p.S179I|uc002kqm.3,p.S179I|uc002kqn.3,p.S179I|NM_001242904,p.S179I|ENST00000317251,p.S82I|ENST00000592977,p.S179I|ENST00000496196,p.S179I|ENST00000592331,p.S105I|ENST00000588072,p.S179I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay	uc010dla.2	nonsynonymous SNV	exon6	c.G536T	p.S179I	NTYKVERFEKVFSSERLFSWKGINF	NTYKVERFEKVFISERLFSWKGINF	10.0	6.0	unscreened	-	4110_18:11888701-11888701 C>A_NTYKVERFEKVFISERLFSWKGINF
14:72128139-72128139 T>C	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	SIPA1L1	uc001xmv.3,p.V737A|uc001xmt.3,p.V737A|ENST00000537413,p.V212A|ENST00000381232,p.V737A|uc001xmu.3,p.V737A|ENST00000555818,p.V737A|NM_001284246,p.V737A|NM_001284247,p.V737A|NM_001284245,p.V737A|uc001xms.3,p.V737A|uc010ttm.2,p.V212A|NM_015556,p.V737A|ENST00000358550,p.V737A	retained_intron, protein_coding, processed_transcript	uc010ttm.2	nonsynonymous SNV	exon6	c.T635C	p.V212A	PKNIRSHFQHVFVIVRVHNPCSDSV	PKNIRSHFQHVFAIVRVHNPCSDSV	7.0	9.0	-	-	4110_14:72128139-72128139 T>C_PKNIRSHFQHVFAIVRVHNPCSDSV
12:989025-989025 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	WNK1	ENST00000535698,p.G157E|uc001qio.4,p.G887E|uc031qfk.1,p.G1300E|NM_018979,p.G887E|ENST00000315939,p.G887E|ENST00000530271,p.G1385E|ENST00000340908,p.G480E	retained_intron, protein_coding, processed_transcript	uc031qfk.1	nonsynonymous SNV	exon12	c.G3899A	p.G1300E	TLASSATTAAIPGVSTVVPSQLPTL	TLASSATTAAIPEVSTVVPSQLPTL	8.0	1.0	unscreened	-	4110_12:989025-989025 G>A_TLASSATTAAIPEVSTVVPSQLPTL
9:137300846-137300846 G>A	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	RXRA	NM_002957,p.R164H|ENST00000540193,p.R67H|uc004cfb.2,p.R164H|ENST00000481739,p.R164H|uc004cfc.1,p.R67H|NM_001291921,p.R67H|NM_001291920,p.R137H	protein_coding, processed_transcript	uc004cfc.1	nonsynonymous SNV	exon3	c.G200A	p.R67H	CEGCKGFFKRTVRKDLTYTCRDNKD	CEGCKGFFKRTVHKDLTYTCRDNKD	7.0	10.0	-	-	4110_9:137300846-137300846 G>A_CEGCKGFFKRTVHKDLTYTCRDNKD
14:64701791-64701791 C>A	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	ESR2	NM_001271877,p.D344Y|NM_001040275,p.D435Y|ENST00000358599,p.D435Y|ENST00000357782,p.D435Y|ENST00000267525,p.D344Y|NM_001437,p.D435Y|ENST00000353772,p.D435Y|NM_001214902,p.D435Y|uc001xgv.3,p.D435Y|uc010aqc.1,p.D344Y|ENST00000542956,p.D435Y|NM_001271876,p.D435Y|uc001xgz.2,p.D435Y|ENST00000554572,p.D435Y|uc001xgy.2,p.D435Y|uc001xgu.3,p.D435Y|ENST00000341099,p.D435Y|uc001xha.1,p.D435Y|ENST00000556275,p.D435Y|ENST00000555278,p.D435Y|uc031qoy.1,p.D435Y|NM_001291723,p.D435Y|NM_001291712,p.D435Y|uc001xgx.3,p.D435Y|ENST00000557772,p.D435Y|ENST00000553796,p.D435Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc031qoy.1	nonsynonymous SNV	exon7	c.G1303T	p.D435Y	SRKLAHLLNAVTDALVWVIAKSGIS	SRKLAHLLNAVTYALVWVIAKSGIS	2.0	9.0	-	-	4110_14:64701791-64701791 C>A_SRKLAHLLNAVTYALVWVIAKSGIS
8:145698736-145698736 C>T	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	KIFC2	uc003zda.3,p.A195V|NM_145754,p.A807V|uc003zcz.3,p.A807V|ENST00000301332,p.A807V	retained_intron, protein_coding, processed_transcript	uc003zda.3	nonsynonymous SNV	exon1	c.C584T	p.A195V	AVLHAPVPTTARARLSRPQRACPSS	AVLHAPVPTTARVRLSRPQRACPSS	6.0	10.0	-	-	4110_8:145698736-145698736 C>T_AVLHAPVPTTARVRLSRPQRACPSS
10:101190208-101190208 C>T	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	GOT1	ENST00000370508,p.G39R|uc009xwi.2,p.G39R|NM_002079,p.G39R|uc001kpr.3,p.G39R	protein_coding, processed_transcript	uc009xwi.2	nonsynonymous SNV	exon1	c.G115A	p.G39R	EDPDPRKVNLGVGAYRTDDCHPWVL	EDPDPRKVNLGVRAYRTDDCHPWVL	9.0	3.0	unscreened	-	4110_10:101190208-101190208 C>T_EDPDPRKVNLGVRAYRTDDCHPWVL
1:70819722-70819722 C>T	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	ANKRD13C	NM_030816,p.D124N|uc009wbk.3,p.D124N|ENST00000262346,p.D124N|uc001dey.4,p.D124N|uc001dex.4,p.D124N|ENST00000370944,p.D124N	protein_coding, processed_transcript	uc009wbk.3	nonsynonymous SNV	exon1	c.G370A	p.D124N	AHYPVHECVFKGDVRRLSSLIRTHN	AHYPVHECVFKGNVRRLSSLIRTHN	9.0	6.0	-	-	4110_1:70819722-70819722 C>T_AHYPVHECVFKGNVRRLSSLIRTHN
3:67568751-67568751 C>G	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	SUCLG2	uc003dna.4,p.D194H|ENST00000492795,p.D194H|uc010hob.3,p.D75H|ENST00000307227,p.D194H|NM_001177599,p.D194H|NM_003848,p.D194H|ENST00000493112,p.D194H|uc021xae.1,p.D194H	protein_coding	uc021xae.1	nonsynonymous SNV	exon6	c.G580C	p.D194H	ASNPELIFKEQIDIFEGIKDSQAQR	ASNPELIFKEQIHIFEGIKDSQAQR	9.0	1.0	unscreened	-	4110_3:67568751-67568751 C>G_ASNPELIFKEQIHIFEGIKDSQAQR
16:25258076-25258076 G>A	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	ZKSCAN2	uc002dod.4,p.R481C|uc002doe.2,p.R481C|ENST00000328086,p.R481C|NM_001012981,p.R481C|uc010vcl.2,p.R277C	retained_intron, protein_coding, nonsense_mediated_decay	uc010vcl.2	nonsynonymous SNV	exon5	c.C829T	p.R277C	DSDDDEIGIEFIRKSEIHGAPVLFQ	DSDDDEIGIEFICKSEIHGAPVLFQ	6.0	10.0	-	-	4110_16:25258076-25258076 G>A_DSDDDEIGIEFICKSEIHGAPVLFQ
5:2749699-2749699 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	IRX2	ENST00000382611,p.A151D|NM_033267,p.A151D|NM_001134222,p.A151D|uc003jdb.3,p.A151D|uc003jda.3,p.A151D|ENST00000302057,p.A151D	protein_coding	uc003jdb.3	nonsynonymous SNV	exon2	c.C452A	p.A151D	NPYPTKGEKIMLAIITKMTLTQVST	NPYPTKGEKIMLDIITKMTLTQVST	5.0	3.0	unscreened	-	4110_5:2749699-2749699 G>T_NPYPTKGEKIMLDIITKMTLTQVST
17:33586629-33586629 C>T	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	SLFN5	ENST00000299977,p.A307V|uc002hje.3,p.A307V|ENST00000592325,p.A307V|uc002hjf.4,p.A307V|ENST00000542451,p.A307V|uc010wcg.2,p.A307V|NM_144975,p.A307V	protein_coding	uc010wcg.2	nonsynonymous SNV	exon2	c.C920T	p.A307V	AIKVEKFCCAVFAKVPSSWQVKDNR	AIKVEKFCCAVFVKVPSSWQVKDNR	6.0	9.0	unscreened	-	4110_17:33586629-33586629 C>T_AIKVEKFCCAVFVKVPSSWQVKDNR
16:70867805-70867805 C>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	HYDIN	uc031qwy.1,p.G4555V|NM_001270974,p.G4555V|ENST00000393567,p.G4555V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon79	c.G13664T	p.G4555V	TQATRRILMMNTGDVGARFKWDIKK	TQATRRILMMNTVDVGARFKWDIKK	6.0	8.0	-	-	4110_16:70867805-70867805 C>A_TQATRRILMMNTVDVGARFKWDIKK
1:235933558-235933558 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	LYST	ENST00000389793,p.L1942F|NM_000081,p.L1942F|NM_001301365,p.L1942F|ENST00000389794,p.L1942F|uc001hxj.3,p.L1942F	retained_intron, protein_coding, processed_transcript	uc001hxj.3	nonsynonymous SNV	exon20	c.C5824T	p.L1942F	GVWETLLAALEVLIRADHHQQMFNI	GVWETLLAALEVFIRADHHQQMFNI	8.0	3.0	unscreened	-	4110_1:235933558-235933558 G>A_GVWETLLAALEVFIRADHHQQMFNI
16:30536932-30536932 G>C	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	ZNF768	ENST00000562803,p.L146V|uc010vex.2,p.L146V|NM_024671,p.L177V|uc002dyk.4,p.L177V|uc010vew.2,p.L146V|ENST00000380412,p.L177V	protein_coding	uc010vex.2	nonsynonymous SNV	exon4	c.C436G	p.L146V	AQSSKFQEGAEMLLNPEEKSPLNIS	AQSSKFQEGAEMVLNPEEKSPLNIS	7.0	9.0	-	-	4110_16:30536932-30536932 G>C_AQSSKFQEGAEMVLNPEEKSPLNIS
15:50279698-50279698 C>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	ATP8B4	NM_024837,p.G213V|uc010ufd.2,p.G86V|ENST00000557955,p.G213V|ENST00000284509,p.G213V|uc001zxu.3,p.G213V|uc010ber.3,p.G86V|ENST00000559829,p.G213V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ufd.2	nonsynonymous SNV	exon11	c.G257T	p.G86V	CEVPNNKLDKFMGILSWKDSKHSLN	CEVPNNKLDKFMVILSWKDSKHSLN	6.0	8.0	-	-	4110_15:50279698-50279698 C>A_CEVPNNKLDKFMVILSWKDSKHSLN
22:24445606-24445606 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	CABIN1	ENST00000405822,p.G194W|ENST00000398319,p.G194W|NM_001199281,p.G194W|uc002zzi.1,p.G194W|uc021wnc.1,p.G194W|uc010guk.1,p.G149W|NM_012295,p.G194W|uc002zzj.1,p.G194W|uc002zzl.2,p.G194W|ENST00000454754,p.G149W|NM_001201429,p.G194W|ENST00000263119,p.G194W|uc002zzk.2,p.G149W|ENST00000445422,p.G149W	retained_intron, protein_coding, processed_transcript	uc021wnc.1	nonsynonymous SNV	exon7	c.G580T	p.G194W	CKALEKDCRYSKGLVLKEKIFEEQP	CKALEKDCRYSKWLVLKEKIFEEQP	8.0	3.0	unscreened	-	4110_22:24445606-24445606 G>T_CKALEKDCRYSKWLVLKEKIFEEQP
10:11527038-11527038 T>A	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	USP6NL	uc001iks.1,p.D303V|uc001ikt.3,p.D286V|NM_001080491,p.D303V|ENST00000277575,p.D303V|ENST00000379237,p.D286V|NM_014688,p.D286V	protein_coding	uc001ikt.3	nonsynonymous SNV	exon13	c.A857T	p.D286V	DRTPFTLNLRIWDIYIFEGERVLTA	DRTPFTLNLRIWVIYIFEGERVLTA	6.0	10.0	-	-	4110_10:11527038-11527038 T>A_DRTPFTLNLRIWVIYIFEGERVLTA
12:12977591-12977591 G>C	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	DDX47	ENST00000352940,p.D290H|uc001ray.3,p.D290H|NM_201224,p.D290H|ENST00000358007,p.D339H|NM_016355,p.D339H|uc001rax.3,p.D339H|uc001rav.3,p.D339H	retained_intron, protein_coding, processed_transcript	uc001ray.3	nonsynonymous SNV	exon8	c.G868C	p.D290H	LDIPHVDVVVNFDIPTHSKDYIHRV	LDIPHVDVVVNFHIPTHSKDYIHRV	10.0	6.0	-	-	4110_12:12977591-12977591 G>C_LDIPHVDVVVNFHIPTHSKDYIHRV
11:55594800-55594800 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	OR5L2	NM_001004739,p.G36R|ENST00000378397,p.G36R|uc001nhy.1,p.G36R	protein_coding	uc001nhy.1	nonsynonymous SNV	exon1	c.G106A	p.G36R	RVCLFLLFLLIYGVTLLANLGMTAL	RVCLFLLFLLIYRVTLLANLGMTAL	1.0	4.0	unscreened	-	4110_11:55594800-55594800 G>A_RVCLFLLFLLIYRVTLLANLGMTAL
X:117695385-117695385 G>C	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	DOCK11	uc004eqp.2,p.D200H|ENST00000276204,p.D200H|ENST00000276202,p.D200H|NM_144658,p.D200H	protein_coding, processed_transcript	uc004eqp.2	nonsynonymous SNV	exon7	c.G598C	p.D200H	FKRRYFYLTQLPDGSYILNSYKDEK	FKRRYFYLTQLPHGSYILNSYKDEK	6.0	2.0	unscreened	-	4110_X:117695385-117695385 G>C_FKRRYFYLTQLPHGSYILNSYKDEK
7:128852133-128852133 C>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	1	SMO	uc003vor.3,p.N735K|ENST00000249373,p.N735K|NM_005631,p.N735K	retained_intron, protein_coding, nonsense_mediated_decay	uc003vor.3	nonsynonymous SNV	exon12	c.C2205A	p.N735K	DSCRQGAWTLVSNPFCPEPSPPQDP	DSCRQGAWTLVSKPFCPEPSPPQDP	7.0	2.0	unscreened	-	4110_7:128852133-128852133 C>A_DSCRQGAWTLVSKPFCPEPSPPQDP
17:7577098-7577098 T>A	1.0	4110	CHOLANGIOCARCINOMA	-	-	ID=COSM44171;OCCURENCE=1(ovary),2(liver),4(urinary_tract),2(upper_aerodigestive_tract),1(oesophagus),1(haematopoietic_and_lymphoid_tissue)	1	TP53	NM_001276761,p.R241S|ENST00000359597,p.R280S|NM_001276698,p.R121S|uc002gih.3,p.R280S|uc010cng.2,p.R121S|NM_001126118,p.R241S|NM_001276696,p.R241S|NM_001126117,p.R148S|ENST00000445888,p.R280S|NM_000546,p.R280S|NM_001276699,p.R121S|ENST00000269305,p.R280S|NM_001126112,p.R280S|NM_001276760,p.R241S|uc002gij.3,p.R241S|NM_001126114,p.R280S|uc010cnf.2,p.R121S|NM_001126116,p.R148S|NM_001126115,p.R148S|NM_001276695,p.R241S|uc002gii.2,p.R121S|ENST00000509690,p.R148S|ENST00000455263,p.R280S|NM_001276697,p.R121S|ENST00000420246,p.R280S|NM_001126113,p.R280S|uc031qyq.1,p.R241S	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon7	c.A723T	p.R241S	NSFEVRVCACPGRDRRTEEENLRKK	NSFEVRVCACPGSDRRTEEENLRKK	8.0	8.0	-	-	4110_17:7577098-7577098 T>A_NSFEVRVCACPGSDRRTEEENLRKK
3:49723322-49723327 GCGCTG>-	0.0	4110	CHOLANGIOCARCINOMA	-	rs71233013	ID=COSM1724580;OCCURENCE=1(NS)	-	MST1	uc003cxg.3,p.406_407del|NM_020998,p.406_407del|ENST00000449682,p.406_407del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003cxg.3	nonframeshift deletion	exon10	c.1216_1221del	p.406_407del	GTVSKTRKGVQCQRWSAETPHKPQF	GTVSKTRKGVQCWSAETPHKPQFTF	9.0	4.0	unscreened	-	4110_3:49723322-49723327 GCGCTG>-_GTVSKTRKGVQCWSAETPHKPQFTF
12:32490653-32490653 G>T	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	BICD1	uc001rkw.1,p.A107S|uc001rku.3,p.A825S|ENST00000281474,p.A825S|NM_001714,p.A825S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rkw.1	nonsynonymous SNV	exon2	c.G319T	p.A107S	KSKIGSPKVSGEASVTVPTIDTYLL	KSKIGSPKVSGESSVTVPTIDTYLL	5.0	9.0	-	-	4110_12:32490653-32490653 G>T_KSKIGSPKVSGESSVTVPTIDTYLL
10:35897048-35897048 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	GJD4	NM_153368,p.A203S|uc001iyy.1,p.A203S|ENST00000321660,p.A203S	protein_coding	uc001iyy.1	nonsynonymous SNV	exon2	c.G607T	p.A203S	PTEKSLLMLFLWAVSALSFLLGLAD	PTEKSLLMLFLWSVSALSFLLGLAD	1.0	6.0	-	-	4110_10:35897048-35897048 G>T_PTEKSLLMLFLWSVSALSFLLGLAD
6:109850200-109850201 AC>-	0.0	4110	CHOLANGIOCARCINOMA	0.63	-	ID=COSM1732834;OCCURENCE=1(pancreas)	-	AK9	uc011eat.1,p.V295fs|ENST00000355283,p.V295fs	retained_intron, protein_coding	uc011eat.1	frameshift deletion	exon5	c.883_884del	p.V295fs	ERDKKRREVSSFVFFFKTGSHSVAQ	ERDKKRREVSSFFFFQNRVSLCCPGQGTVAQS	7.0	7.0	unscreened	-	4110_6:109850200-109850201 AC>-_ERDKKRREVSSFFFFQNRVSLCCPGQGTVAQS
17:33586628-33586628 G>A	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	SLFN5	uc010wcg.2,p.A307T|NM_144975,p.A307T|uc002hjf.4,p.A307T|ENST00000299977,p.A307T|ENST00000592325,p.A307T|uc002hje.3,p.A307T|ENST00000542451,p.A307T	protein_coding	uc010wcg.2	nonsynonymous SNV	exon2	c.G919A	p.A307T	AIKVEKFCCAVFAKVPSSWQVKDNR	AIKVEKFCCAVFTKVPSSWQVKDNR	6.0	9.0	unscreened	-	4110_17:33586628-33586628 G>A_AIKVEKFCCAVFTKVPSSWQVKDNR
9:117405471-117405471 A>G	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	C9orf91	uc004bjf.4,p.T202A|ENST00000288502,p.T303A|uc004bje.4,p.T282A|uc004bjd.4,p.T303A|ENST00000374049,p.T304A|NM_153045,p.T303A	protein_coding, processed_transcript	uc004bjf.4	nonsynonymous SNV	exon7	c.A604G	p.T202A	AVFGGYYIRLLVTSQLPQAMGTRHT	AVFGGYYIRLLVASQLPQAMGTRHT	7.0	5.0	unscreened	-	4110_9:117405471-117405471 A>G_AVFGGYYIRLLVASQLPQAMGTRHT
12:76765336-76765336 T>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	OSBPL8	ENST00000261183,p.K649M|ENST00000546946,p.K624M|ENST00000393250,p.K607M|NM_020841,p.K649M|NM_001003712,p.K607M|uc001syh.1,p.K624M|ENST00000393249,p.K607M|uc001syf.1,p.K607M|ENST00000547540,p.K649M|uc001syg.1,p.K607M|uc001sye.1,p.K649M	retained_intron, protein_coding, processed_transcript	uc001syh.1	nonsynonymous SNV	exon16	c.A1871T	p.K624M	GHWDSEVFITDKKTDNSEVFWNPTP	GHWDSEVFITDKMTDNSEVFWNPTP	9.0	1.0	unscreened	-	4110_12:76765336-76765336 T>A_GHWDSEVFITDKMTDNSEVFWNPTP
7:126883135-126883135 C>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	GRM8	ENST00000405249,p.V42L|uc003vlt.2,p.V42L|ENST00000457830,p.V42L|NM_000845,p.V42L|ENST00000444921,p.V42L|NM_001127323,p.V42L|ENST00000472701,p.V42L|ENST00000341617,p.V42L|ENST00000358373,p.V42L|uc003vlr.2,p.V42L|ENST00000339582,p.V42L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003vlt.2	nonsynonymous SNV	exon2	c.G124T	p.V42L	RTHSQEYAHSIRVDGDIILGGLFPV	RTHSQEYAHSIRLDGDIILGGLFPV	8.0	1.0	unscreened	-	4110_7:126883135-126883135 C>A_RTHSQEYAHSIRLDGDIILGGLFPV
8:41522429-41522429 T>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	2	ANK1	ENST00000457297,p.K38M|ENST00000348036,p.K38M|ENST00000314214,p.K38M|NM_001142445,p.K38M|uc003xoc.3,p.K38M|uc003xof.3,p.K38M|NM_020480,p.K38M|NM_020478,p.K38M|ENST00000522231,p.K38M|ENST00000522543,p.K38M|uc011lcl.2,p.K38M|uc003xod.3,p.K38M|ENST00000335651,p.K38M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lcl.2	nonsynonymous SNV	exon1	c.A113T	p.K38M	MHIVRGSLCFVLKHIHQELDKELGE	MHIVRGSLCFVLMHIHQELDKELGE	5.0	2.0	unscreened	-	4110_8:41522429-41522429 T>A_MHIVRGSLCFVLMHIHQELDKELGE
17:41180548-41180548 G>C	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	RND2	ENST00000587250,p.V179L|ENST00000544533,p.V180L|NM_005440,p.V179L|uc002icn.3,p.V179L	retained_intron, protein_coding	uc002icn.3	nonsynonymous SNV	exon5	c.G535C	p.V179L	ERSVRDVFHVATVASLGRGHRQLRR	ERSVRDVFHVATLASLGRGHRQLRR	6.0	7.0	-	-	4110_17:41180548-41180548 G>C_ERSVRDVFHVATLASLGRGHRQLRR
X:54836497-54836497 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	MAGED2	uc004dtm.1,p.A92S|NM_201222,p.A130S|uc004dtl.1,p.A130S|ENST00000375060,p.A92S|ENST00000375068,p.A130S|ENST00000218439,p.A130S|ENST00000375053,p.A130S|uc004dto.1,p.A104S|uc004dtn.1,p.A130S|NM_014599,p.A130S|uc004dtk.1,p.A130S|ENST00000375062,p.A92S|NM_177433,p.A130S|ENST00000347546,p.A74S|ENST00000343474,p.A112S|ENST00000375058,p.A130S|ENST00000396224,p.A130S	protein_coding, processed_transcript	uc004dto.1	nonsynonymous SNV	exon1	c.G310T	p.A104S	MPATETKKVSHVADTKVNTKAQETE	MPATETKKVSHVSDTKVNTKAQETE	9.0	8.0	-	-	4110_X:54836497-54836497 G>T_MPATETKKVSHVSDTKVNTKAQETE
19:19218792-19218792 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	SLC25A42	NM_178526,p.G196E|ENST00000318596,p.G196E|uc002nlf.3,p.G196E	retained_intron, protein_coding, processed_transcript	uc002nlf.3	nonsynonymous SNV	exon7	c.G587A	p.G196E	KTLYHGFMPTVLGVIPYAGLSFFTY	KTLYHGFMPTVLEVIPYAGLSFFTY	5.0	5.0	unscreened	-	4110_19:19218792-19218792 G>A_KTLYHGFMPTVLEVIPYAGLSFFTY
2:172314925-172314925 G>A	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	DCAF17	ENST00000539783,p.G259D|ENST00000375255,p.G259D|uc002ugx.3,p.G259D|NM_025000,p.G259D|uc010fqf.2,p.G259D|NM_001164821,p.G259D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fqf.2	nonsynonymous SNV	exon8	c.G776A	p.G259D	QQKLDLGCACRWGGTTGTVGEAPFG	QQKLDLGCACRWDGTTGTVGEAPFG	9.0	10.0	-	-	4110_2:172314925-172314925 G>A_QQKLDLGCACRWDGTTGTVGEAPFG
12:12977591-12977591 G>C	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	DDX47	uc009zhw.1,p.D339H	retained_intron, protein_coding, processed_transcript	uc009zhw.1	nonsynonymous SNV	exon9	c.G1015C	p.D339H	LDIPHVDVVVNFDIPTHSKVSPIAN	LDIPHVDVVVNFHIPTHSKVSPIAN	10.0	6.0	-	-	4110_12:12977591-12977591 G>C_LDIPHVDVVVNFHIPTHSKVSPIAN
20:33173353-33173353 C>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	PIGU	ENST00000374820,p.G252S|NM_080476,p.G272S|ENST00000217446,p.G272S|ENST00000452740,p.G272S|uc002xas.3,p.G272S|uc010zul.2,p.G272S|uc002xat.3,p.G252S	retained_intron, protein_coding, processed_transcript	uc010zul.2	nonsynonymous SNV	exon9	c.G814A	p.G272S	FILSVPDLTPNIGLFWYFFAEMFEH	FILSVPDLTPNISLFWYFFAEMFEH	8.0	2.0	unscreened	-	4110_20:33173353-33173353 C>T_FILSVPDLTPNISLFWYFFAEMFEH
9:96715451-96715451 T>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	BARX1	NM_021570,p.Q81L|ENST00000253968,p.Q81L|uc010mrh.3,p.Q81L	protein_coding	uc010mrh.3	nonsynonymous SNV	exon2	c.A242T	p.Q81L	PFHSHLAVLKAEQAAVFKFPLAPLG	PFHSHLAVLKAELAAVFKFPLAPLG	1.0	10.0	-	-	4110_9:96715451-96715451 T>A_PFHSHLAVLKAELAAVFKFPLAPLG
8:61764776-61764776 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	CHD7	uc003xue.3,p.R1955K|ENST00000423902,p.R1955K|NM_017780,p.R1955K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xue.3	nonsynonymous SNV	exon29	c.G5864A	p.R1955K	RPREEVRALEAEREAIISEKRQKWT	RPREEVRALEAEKEAIISEKRQKWT	8.0	5.0	unscreened	-	4110_8:61764776-61764776 G>A_RPREEVRALEAEKEAIISEKRQKWT
19:55993135-55993135 G>T	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	ZNF628	ENST00000391718,p.R188L|uc002qld.3,p.R192L|ENST00000598519,p.R192L|NM_033113,p.R192L	protein_coding	uc002qld.3	nonsynonymous SNV	exon3	c.G575T	p.R192L	VCGKSFTQSTNLRQHQRVHTGERPF	VCGKSFTQSTNLLQHQRVHTGERPF	5.0	7.0	-	-	4110_19:55993135-55993135 G>T_VCGKSFTQSTNLLQHQRVHTGERPF
5:79950745-79950745 C>G	1.0	4110	CHOLANGIOCARCINOMA	-	-	ID=COSM1186784;OCCURENCE=1(lung)	-	MSH3	ENST00000265081,p.P67A|NM_002439,p.P67A|uc003kgz.4,p.P67A	protein_coding, processed_transcript	uc003kgz.4	nonsynonymous SNV	exon1	c.C199G	p.P67A	AAAAAAAAPPAPPAPAFPPQLPPHI	AAAAAAAAPPAPAAPAFPPQLPPHI	6.0	8.0	unscreened	-	4110_5:79950745-79950745 C>G_AAAAAAAAPPAPAAPAFPPQLPPHI
3:49723322-49723327 GCGCTG>-	0.0	4110	CHOLANGIOCARCINOMA	-	rs71233013	ID=COSM1724580;OCCURENCE=1(NS)	-	MST1	uc011bcs.1,p.444_446del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bcs.1	nonframeshift deletion	exon9	c.1332_1337del	p.444_446del	AARSARPARVSSASAGPLRRRTSRS	AARSARPARVSSAGPLRRRTSRSSR	9.0	4.0	unscreened	-	4110_3:49723322-49723327 GCGCTG>-_AARSARPARVSSAGPLRRRTSRSSR
19:53994930-53994930 C>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	ZNF813	NM_001004301,p.L482F|uc002qbu.2,p.L482F|ENST00000396403,p.L482F	protein_coding	uc002qbu.2	nonsynonymous SNV	exon4	c.C1444T	p.L482F	NECGKTFSRISALVIHTAIHTGEKP	NECGKTFSRISAFVIHTAIHTGEKP	9.0	4.0	unscreened	-	4110_19:53994930-53994930 C>T_NECGKTFSRISAFVIHTAIHTGEKP
10:134038742-134038742 C>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	STK32C	ENST00000368625,p.G304R|NM_173575,p.G291R|ENST00000298630,p.G291R|uc001lle.1,p.G291R|ENST00000462160,p.G230R|uc001lld.1,p.G174R|uc010quu.1,p.G304R|ENST00000368622,p.G174R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010quu.1	nonsynonymous SNV	exon7	c.G910A	p.G304R	WSVGVMAYELLRGWRPYDIHSSNAV	WSVGVMAYELLRRWRPYDIHSSNAV	7.0	6.0	-	-	4110_10:134038742-134038742 C>T_WSVGVMAYELLRRWRPYDIHSSNAV
4:154216997-154216997 G>A	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	TRIM2	NM_015271,p.R440Q|uc003inh.2,p.R440Q|uc003ing.2,p.R413Q|NM_001130067,p.R413Q|ENST00000437508,p.R413Q|ENST00000338700,p.R440Q	retained_intron, protein_coding, processed_transcript	uc003inh.2	nonsynonymous SNV	exon6	c.G1319A	p.R440Q	FTLSLRLYDQHIRGSPFKLKVIRSA	FTLSLRLYDQHIQGSPFKLKVIRSA	6.0	10.0	-	-	4110_4:154216997-154216997 G>A_FTLSLRLYDQHIQGSPFKLKVIRSA
19:7619917-7619917 C>T	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	PNPLA6	NM_001166111,p.R935C|uc010xjp.2,p.R860C|uc002mgr.2,p.R887C|ENST00000414982,p.R935C|NM_001166114,p.R925C|ENST00000545201,p.R860C|NM_001166113,p.R887C|uc002mgq.2,p.R887C|uc002mgs.3,p.R925C|NM_006702,p.R887C|uc010xjq.2,p.R935C|ENST00000600737,p.R925C|ENST00000450331,p.R887C|NM_001166112,p.R860C|ENST00000221249,p.R887C	retained_intron, protein_coding, processed_transcript	uc010xjq.2	nonsynonymous SNV	exon24	c.C2803T	p.R935C	NMRSWCSGHLHLRCPRRLFSRRSPA	NMRSWCSGHLHLCCPRRLFSRRSPA	8.0	10.0	-	-	4110_19:7619917-7619917 C>T_NMRSWCSGHLHLCCPRRLFSRRSPA
11:63057726-63057726 T>C	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	SLC22A10	uc009yor.3,p.L30S|ENST00000332793,p.L30S|NM_001039752,p.L30S	protein_coding, processed_transcript, nonsense_mediated_decay	uc009yor.3	nonsynonymous SNV	exon1	c.T89C	p.L30S	MLHLVFILPSLMLLIPHILLENFAA	MLHLVFILPSLMSLIPHILLENFAA	1.0	3.0	unscreened	-	4110_11:63057726-63057726 T>C_MLHLVFILPSLMSLIPHILLENFAA
11:57100515-57100515 T>C	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	SSRP1	ENST00000278412,p.Q152R|uc001njt.3,p.Q152R|NM_003146,p.Q152R|ENST00000529002,p.Q55R|ENST00000526696,p.Q55R|uc010rjq.1,p.Q152R	retained_intron, protein_coding	uc010rjq.1	nonsynonymous SNV	exon4	c.A455G	p.Q152R	TTGKNEVTLEFHQNDDAEVSLMEVR	TTGKNEVTLEFHRNDDAEVSLMEVR	8.0	9.0	-	-	4110_11:57100515-57100515 T>C_TTGKNEVTLEFHRNDDAEVSLMEVR
16:70867845-70867845 G>C	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	HYDIN	NM_001270974,p.Q4542E|ENST00000393567,p.Q4542E|uc031qwy.1,p.Q4542E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon79	c.C13624G	p.Q4542E	DQEHIPFGPVVYQTQATRRILMMNT	DQEHIPFGPVVYETQATRRILMMNT	6.0	7.0	unscreened	-	4110_16:70867845-70867845 G>C_DQEHIPFGPVVYETQATRRILMMNT
5:10390551-10390551 C>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	MARCH6	ENST00000449913,p.A124E|uc003jet.2,p.A172E|NM_005885,p.A172E|ENST00000274140,p.A172E|uc011cmv.2,p.A67E|uc011cmu.2,p.A124E|ENST00000503788,p.A67E|NM_001270661,p.A67E|NM_001270660,p.A124E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cmv.2	nonsynonymous SNV	exon3	c.C200A	p.A67E	LVWLREQIVHGGAPIWLEHAAPPFN	LVWLREQIVHGGEPIWLEHAAPPFN	8.0	5.0	-	-	4110_5:10390551-10390551 C>A_LVWLREQIVHGGEPIWLEHAAPPFN
10:71017123-71017123 T>C	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	HKDC1	uc010qje.2,p.V521A|ENST00000354624,p.V658A|NM_025130,p.V658A|ENST00000395086,p.V658A|uc001jpf.4,p.V658A	protein_coding, processed_transcript	uc010qje.2	nonsynonymous SNV	exon11	c.T1562C	p.V521A	FDLDIVAVVNDTVGTMMTCGYEDPN	FDLDIVAVVNDTAGTMMTCGYEDPN	8.0	1.0	unscreened	-	4110_10:71017123-71017123 T>C_FDLDIVAVVNDTAGTMMTCGYEDPN
17:58539172-58539172 T>C	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	APPBP2	NM_001282476,p.Q241R|uc002iys.1,p.Q312R|ENST00000083182,p.Q312R|NM_006380,p.Q312R|uc010ddl.1,p.Q241R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ddl.1	nonsynonymous SNV	exon7	c.A722G	p.Q241R	NVDNICQSVAIYQAALDIRQSVFGG	NVDNICQSVAIYRAALDIRQSVFGG	8.0	3.0	unscreened	-	4110_17:58539172-58539172 T>C_NVDNICQSVAIYRAALDIRQSVFGG
7:138872273-138872273 G>A	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	TTC26	ENST00000495038,p.G383E|uc011kqp.1,p.G409E|ENST00000343187,p.G483E|uc011kqo.1,p.G483E|NM_001287512,p.G383E|NM_001144923,p.G483E|uc011kqq.1,p.G383E|ENST00000464848,p.G514E|NM_001287513,p.G409E|NM_024926,p.G514E|ENST00000478836,p.G407E|uc003vut.2,p.G374E|uc003vus.2,p.G514E	protein_coding, processed_transcript, nonsense_mediated_decay	uc011kqq.1	nonsynonymous SNV	exon14	c.G1148A	p.G383E	GACVGIFQMIIAGREPKETLREVLH	GACVGIFQMIIAEREPKETLREVLH	6.0	8.0	-	-	4110_7:138872273-138872273 G>A_GACVGIFQMIIAEREPKETLREVLH
6:105564680-105564680 A>C	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	BVES	uc003pqx.3,p.F238V|NM_007073,p.F238V|ENST00000446408,p.F238V|NM_147147,p.F238V|ENST00000336775,p.F238V|uc003pqw.3,p.F238V|ENST00000314641,p.F238V|NM_001199563,p.F238V|uc003pqy.3,p.F238V	protein_coding	uc003pqy.3	nonsynonymous SNV	exon6	c.T712G	p.F238V	RFLCWSRERLTYFLESEPFLYEIFR	RFLCWSRERLTYVLESEPFLYEIFR	1.0	10.0	-	-	4110_6:105564680-105564680 A>C_RFLCWSRERLTYVLESEPFLYEIFR
1:161830003-161830003 C>G	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	ATF6	NM_007348,p.L514V|uc001gbs.3,p.L514V|uc001gbq.2,p.L514V|ENST00000367942,p.L514V	protein_coding, processed_transcript	uc001gbs.3	nonsynonymous SNV	exon13	c.C1540G	p.L514V	NNQQKTRILQGALEQGSNSQLMAVQ	NNQQKTRILQGAVEQGSNSQLMAVQ	8.0	1.0	unscreened	-	4110_1:161830003-161830003 C>G_NNQQKTRILQGAVEQGSNSQLMAVQ
9:405014-405014 ->T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	DOCK8	uc010mgu.3,p.L413fs|ENST00000432829,p.L1043fs|NM_001193536,p.L1043fs|ENST00000453981,p.L1111fs|uc022bcu.1,p.L1043fs|uc003zgf.2,p.L1111fs|uc010mgw.2,p.L413fs|ENST00000382331,p.L413fs|NM_203447,p.L1111fs|uc010mgv.3,p.L1011fs|ENST00000469391,p.L1011fs|uc003zgk.2,p.L569fs|ENST00000382329,p.L578fs|NM_001190458,p.L1011fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022bcu.1	frameshift insertion	exon26	c.3128dupT	p.L1043fs	ILCSHEHYLNLNLFFMNADTAPTSP	ILCSHEHYLNLNLFFYEC	5.0	1.0	unscreened	-	4110_9:405014-405014 ->T_ILCSHEHYLNLNLFFYEC
X:128921973-128921973 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	SASH3	ENST00000356892,p.S27I|NM_018990,p.S27I|uc004euu.3,p.S27I	protein_coding, processed_transcript	uc004euu.3	nonsynonymous SNV	exon2	c.G80T	p.S27I	TQKKKLSLQRSSSFKDFAKSKPSSP	TQKKKLSLQRSSIFKDFAKSKPSSP	3.0	9.0	unscreened	-	4110_X:128921973-128921973 G>T_TQKKKLSLQRSSIFKDFAKSKPSSP
17:58539171-58539171 C>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	APPBP2	uc010ddl.1,p.Q241H|NM_001282476,p.Q241H|uc002iys.1,p.Q312H|NM_006380,p.Q312H|ENST00000083182,p.Q312H	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ddl.1	nonsynonymous SNV	exon7	c.G723T	p.Q241H	NVDNICQSVAIYQAALDIRQSVFGG	NVDNICQSVAIYHAALDIRQSVFGG	8.0	2.0	unscreened	-	4110_17:58539171-58539171 C>A_NVDNICQSVAIYHAALDIRQSVFGG
17:72888801-72888801 C>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	FADS6	ENST00000310226,p.R69H|uc002jmd.1,p.R69H	retained_intron, protein_coding	uc002jmd.1	nonsynonymous SNV	exon2	c.G206A	p.R69H	SLFALPAGFLCLRWENALVFASGIT	SLFALPAGFLCLHWENALVFASGIT	2.0	8.0	-	-	4110_17:72888801-72888801 C>T_SLFALPAGFLCLHWENALVFASGIT
19:55814229-55814229 G>T	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	BRSK1	ENST00000309383,p.S341I|ENST00000591774,p.S36I|uc002qkg.3,p.S341I|uc002qkh.3,p.S36I|ENST00000326848,p.S36I|uc031rnb.1,p.S36I|ENST00000590333,p.S357I|uc002qkf.3,p.S357I|NM_032430,p.S341I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rnb.1	nonsynonymous SNV	exon2	c.G107T	p.S36I	FRDRERLHRELRSEEENQEKMIYYL	FRDRERLHRELRIEEENQEKMIYYL	7.0	8.0	-	-	4110_19:55814229-55814229 G>T_FRDRERLHRELRIEEENQEKMIYYL
17:6348627-6348627 G>A	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	FAM64A	ENST00000573557,p.G66E	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000573557	nonsynonymous SNV	exon2	c.G197A	p.G66E	LPLRAVNLNLRAGPSWKRLETPEPE	LPLRAVNLNLRAEPSWKRLETPEPE	7.0	10.0	unscreened	-	4110_17:6348627-6348627 G>A_LPLRAVNLNLRAEPSWKRLETPEPE
2:112944781-112944781 C>A	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	FBLN7	uc010fki.1,p.H294N|ENST00000409450,p.H294N|ENST00000409667,p.H206N|uc002tho.1,p.H340N|ENST00000331203,p.H340N|ENST00000441565,p.H234N|ENST00000272559,p.H162N|uc010fkj.1,p.H206N|NM_153214,p.H340N|NM_001128165,p.H294N	protein_coding, processed_transcript	uc010fkj.1	nonsynonymous SNV	exon5	c.C616A	p.H206N	RPCRHLPKTISFHYLSLPSNLKTPI	RPCRHLPKTISFNYLSLPSNLKTPI	5.0	10.0	-	-	4110_2:112944781-112944781 C>A_RPCRHLPKTISFNYLSLPSNLKTPI
17:6348627-6348627 G>A	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	FAM64A	NM_019013,p.G66E|uc002gcw.2,p.G66E|ENST00000250056,p.G66E|NM_001195228,p.G66E|ENST00000576056,p.G66E|ENST00000572595,p.G66E|uc002gcu.2,p.G66E|ENST00000570337,p.G66E|ENST00000572447,p.G66E|ENST00000571373,p.G66E	retained_intron, protein_coding, nonsense_mediated_decay	uc002gcw.2	nonsynonymous SNV	exon2	c.G197A	p.G66E	LPLRAVNLNLRAGPSWKRLETPEPG	LPLRAVNLNLRAEPSWKRLETPEPG	7.0	10.0	-	-	4110_17:6348627-6348627 G>A_LPLRAVNLNLRAEPSWKRLETPEPG
10:15821099-15821099 T>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	FAM188A	ENST00000277632,p.E410D|ENST00000378036,p.E115D|uc001ioe.1,p.E237D|NM_024948,p.E410D|uc001iod.1,p.E410D	protein_coding, processed_transcript	uc001ioe.1	nonsynonymous SNV	exon14	c.A711T	p.E237D	MYVEGTAVVMGFEDPMLQTDDTPIK	MYVEGTAVVMGFDDPMLQTDDTPIK	8.0	1.0	unscreened	-	4110_10:15821099-15821099 T>A_MYVEGTAVVMGFDDPMLQTDDTPIK
3:52406940-52406940 G>A	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	DNAH1	uc011bef.2,p.G2286R|ENST00000420323,p.G2286R|NM_015512,p.G2286R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bef.2	nonsynonymous SNV	exon44	c.G6856A	p.G2286R	DKRRKGVFGPPLGRNFIFFIDDLNM	DKRRKGVFGPPLRRNFIFFIDDLNM	4.0	9.0	-	-	4110_3:52406940-52406940 G>A_DKRRKGVFGPPLRRNFIFFIDDLNM
2:218999693-218999693 C>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	CXCR2	ENST00000454148,p.L57M|ENST00000453237,p.L57M|uc002vha.2,p.L57M|uc002vhb.2,p.L57M|NM_001557,p.L57M|ENST00000415392,p.L57M|ENST00000318507,p.L57M|NM_001168298,p.L57M|uc021vwp.1,p.L57M|ENST00000428565,p.L57M|uc002vgz.2,p.L57M	protein_coding	uc021vwp.1	nonsynonymous SNV	exon1	c.C169A	p.L57M	EINKYFVVIIYALVFLLSLLGNSLV	EINKYFVVIIYAMVFLLSLLGNSLV	5.0	2.0	unscreened	-	4110_2:218999693-218999693 C>A_EINKYFVVIIYAMVFLLSLLGNSLV
14:96917846-96917846 C>G	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	AK7	NM_152327,p.T346R|ENST00000267584,p.T346R|uc001yfn.3,p.T346R	retained_intron, protein_coding, processed_transcript	uc001yfn.3	nonsynonymous SNV	exon10	c.C1037G	p.T346R	VKENFNIRWAAQTGFVENINTILKE	VKENFNIRWAAQRGFVENINTILKE	7.0	5.0	unscreened	-	4110_14:96917846-96917846 C>G_VKENFNIRWAAQRGFVENINTILKE
11:62299482-62299482 C>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	AHNAK	uc001ntl.3,p.G803W|NM_001620,p.G803W|ENST00000378024,p.G803W	protein_coding, processed_transcript	uc001ntl.3	nonsynonymous SNV	exon5	c.G2407T	p.G803W	DVSIEEPEGKLKGPKFKMPEMNIKV	DVSIEEPEGKLKWPKFKMPEMNIKV	8.0	4.0	unscreened	-	4110_11:62299482-62299482 C>A_DVSIEEPEGKLKWPKFKMPEMNIKV
17:62029216-62029216 G>-	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	SCN4A	uc002jds.1,p.A807fs|ENST00000578147,p.A807fs|NM_000334,p.A807fs|ENST00000435607,p.A807fs	retained_intron, protein_coding	uc002jds.1	frameshift deletion	exon14	c.2421delC	p.A807fs	NLFLALLLSSFSADSLAASDEDGEM	NLFLALLLSSFSATVWQPRMRMAR	3.0	8.0	-	-	4110_17:62029216-62029216 G>-_NLFLALLLSSFSATVWQPRMRMAR
6:37619945-37619945 A>C	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	MDGA1	NM_153487,p.L385R|ENST00000297153,p.L385R|ENST00000434837,p.L385R|uc003onu.1,p.L385R|ENST00000505425,p.L385R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003onu.1	nonsynonymous SNV	exon7	c.T1154G	p.L385R	KNGKPARMSKRLLVTRNDPELPAVT	KNGKPARMSKRLRVTRNDPELPAVT	6.0	5.0	-	-	4110_6:37619945-37619945 A>C_KNGKPARMSKRLRVTRNDPELPAVT
X:35821187-35821187 G>C	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	MAGEB16	ENST00000399987,p.E292Q|uc010ngt.1,p.E292Q|uc022bus.1,p.E292Q|ENST00000399992,p.E324Q|NM_001099921,p.E292Q|ENST00000399989,p.E292Q|ENST00000399988,p.E292Q|ENST00000399985,p.E292Q	protein_coding	uc022bus.1	nonsynonymous SNV	exon1	c.G874C	p.E292Q	RAKAETSKMKVLEFVAKVHGSYPHS	RAKAETSKMKVLQFVAKVHGSYPHS	1.0	9.0	unscreened	-	4110_X:35821187-35821187 G>C_RAKAETSKMKVLQFVAKVHGSYPHS
19:10677946-10677946 C>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	CDKN2D	NM_001800,p.G97W|NM_079421,p.G97W|ENST00000393599,p.G97W|uc002mpa.3,p.G97W|uc002mpb.3,p.G97W|ENST00000335766,p.G97W	protein_coding	uc002mpb.3	nonsynonymous SNV	exon3	c.G289T	p.G97W	GFLDTLKVLVEHGADVNVPDGTGAL	GFLDTLKVLVEHWADVNVPDGTGAL	5.0	2.0	unscreened	-	4110_19:10677946-10677946 C>A_GFLDTLKVLVEHWADVNVPDGTGAL
3:51749176-51749176 A>-	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	GRM2	ENST00000442933,p.S463fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000442933	frameshift deletion	exon3	c.1387delA	p.S463fs	GRYNIFTYLRAGSGRYRYQKTRKCP	GRYNIFTYLRAGVGAIATRRLASAPKTSTRPSSLASPCTPPASSGWHSCPSSMSPPVTTGYRPPPCACQSASAAPWCLAASLRPSCTSSSSSRRRTWLATGHPPAALAVLLPGPAPALAKGLAPSLSPLFAMAVRWWTRQRHRF	1.0	1.0	unscreened	-	4110_3:51749176-51749176 A>-_GRYNIFTYLRAGVGAIATRRLASAPKTSTRPSSLASPCTPPASSGWHSCPSSMSPPVTTGYRPPPCACQSASAAPWCLAASLRPSCTSSSSSRRRTWLATGHPPAALAVLLPGPAPALAKGLAPSLSPLFAMAVRWWTRQRHRF
7:139416464-139416464 C>G	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	HIPK2	NM_022740,p.D124H|ENST00000428878,p.D124H|NM_001113239,p.D124H|ENST00000406875,p.D124H|ENST00000342645,p.D124H|uc003vvd.4,p.D124H|uc003vvf.4,p.D124H	protein_coding	uc003vvf.4	nonsynonymous SNV	exon2	c.G370C	p.D124H	HNLMRRSTVSLLDTYQKCGLKRKSE	HNLMRRSTVSLLHTYQKCGLKRKSE	5.0	5.0	unscreened	-	4110_7:139416464-139416464 C>G_HNLMRRSTVSLLHTYQKCGLKRKSE
X:120182697-120182697 C>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	GLUD2	uc004eto.3,p.Q387K|ENST00000328078,p.Q387K|NM_012084,p.Q387K	protein_coding	uc004eto.3	nonsynonymous SNV	exon1	c.C1159A	p.Q387K	DCDILIPAATEKQLTKSNAPRVKAK	DCDILIPAATEKKLTKSNAPRVKAK	7.0	10.0	-	-	4110_X:120182697-120182697 C>A_DCDILIPAATEKKLTKSNAPRVKAK
4:113333099-113333099 C>G	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	ALPK1	ENST00000515106,p.Q80E|ENST00000509722,p.Q80E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000515106	nonsynonymous SNV	exon4	c.C238G	p.Q80E	WARRLWKTSAGRQRSPQVAASHANC	WARRLWKTSAGRERSPQVAASHANC	7.0	9.0	unscreened	-	4110_4:113333099-113333099 C>G_WARRLWKTSAGRERSPQVAASHANC
1:186321214-186321214 T>C	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	1	TPR	uc001grv.3,p.K788R|ENST00000367478,p.K788R|NM_003292,p.K788R	retained_intron, protein_coding, processed_transcript	uc001grv.3	nonsynonymous SNV	exon19	c.A2363G	p.K788R	VAEVRAENLKKEKEMLKLSEVRLSQ	VAEVRAENLKKEREMLKLSEVRLSQ	9.0	3.0	unscreened	-	4110_1:186321214-186321214 T>C_VAEVRAENLKKEREMLKLSEVRLSQ
19:23542901-23542901 A>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	ZNF91	uc002nre.3,p.H960Q|NM_001300951,p.H928Q|ENST00000397082,p.H928Q|ENST00000300619,p.H960Q|uc010xrj.2,p.H928Q|NM_003430,p.H960Q	retained_intron, protein_coding, processed_transcript	uc010xrj.2	nonsynonymous SNV	exon3	c.T2784A	p.H928Q	SQSSTLTTHKIIHTGEKPYKCEECG	SQSSTLTTHKIIQTGEKPYKCEECG	9.0	2.0	unscreened	-	4110_19:23542901-23542901 A>T_SQSSTLTTHKIIQTGEKPYKCEECG
20:1538280-1538280 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	SIRPD	ENST00000381621,p.P7L|uc002wfi.3,p.P7L|ENST00000381623,p.P7L|NM_178460,p.P7L	protein_coding	uc002wfi.3	nonsynonymous SNV	exon1	c.C20T	p.P7L	MPIPASPLHPPLPSLLLYL	MPIPASLLHPPLPSLLLYL	2.0	6.0	-	-	4110_20:1538280-1538280 G>A_MPIPASLLHPPLPSLLLYL
10:102748754-102748754 A>G	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	C10orf2	ENST00000370228,p.T263A|ENST00000311916,p.T263A|uc001ksf.2,p.T263A|uc001ksg.2,p.T263A|NM_021830,p.T263A|NM_001163812,p.T263A	protein_coding, processed_transcript	uc001ksg.2	nonsynonymous SNV	exon1	c.A787G	p.T263A	PLISRRDAEVVLTSRELDSLALNQS	PLISRRDAEVVLASRELDSLALNQS	5.0	7.0	-	-	4110_10:102748754-102748754 A>G_PLISRRDAEVVLASRELDSLALNQS
2:70162512-70162512 A>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	MXD1	ENST00000540449,p.K68M|uc010yqs.2,p.K68M|NM_001202514,p.K68M|ENST00000409442,p.K36M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yqs.2	nonsynonymous SNV	exon3	c.A203T	p.K68M	SSRRAHLRLCLEKLKGLVPLGPESS	SSRRAHLRLCLEMLKGLVPLGPESS	5.0	4.0	unscreened	-	4110_2:70162512-70162512 A>T_SSRRAHLRLCLEMLKGLVPLGPESS
2:70162512-70162512 A>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	MXD1	NM_001202513,p.K78M|ENST00000264444,p.K78M|uc010yqq.2,p.K15M|NM_002357,p.K78M|ENST00000435990,p.K46M|uc002sfy.3,p.K78M|uc010yqp.2,p.K78M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yqq.2	nonsynonymous SNV	exon4	c.A44T	p.K15M	KNRRAHLRLCLEKLKGLVPLGPESS	KNRRAHLRLCLEMLKGLVPLGPESS	5.0	4.0	unscreened	-	4110_2:70162512-70162512 A>T_KNRRAHLRLCLEMLKGLVPLGPESS
19:48607920-48607920 C>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	PLA2G4C	NM_003706,p.G61E|NM_001159323,p.G61E|uc010elr.3,p.G61E|ENST00000599921,p.G61E|uc002phx.3,p.G61E|ENST00000413144,p.G61E|uc002phy.4,p.G61E|ENST00000599111,p.G71E|NM_001159322,p.G71E|ENST00000354276,p.G61E|uc010xzd.2,p.G71E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xzd.2	nonsynonymous SNV	exon4	c.G212A	p.G71E	SGGGLRAHIACLGVLSEMKEQGLLD	SGGGLRAHIACLEVLSEMKEQGLLD	6.0	5.0	unscreened	-	4110_19:48607920-48607920 C>T_SGGGLRAHIACLEVLSEMKEQGLLD
2:25374825-25374825 G>A	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	EFR3B	NM_014971,p.R745Q|ENST00000403714,p.R745Q|ENST00000405108,p.R597Q|uc010eyh.3,p.R745Q|ENST00000402191,p.R710Q|ENST00000264719,p.R580Q	protein_coding	uc010eyh.3	nonsynonymous SNV	exon21	c.G2234A	p.R745Q	SVAVEEQERERRRQVVEKFQKAPFE	SVAVEEQERERRQQVVEKFQKAPFE	3.0	10.0	-	-	4110_2:25374825-25374825 G>A_SVAVEEQERERRQQVVEKFQKAPFE
7:1484924-1484924 C>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	MICALL2	NM_182924,p.G261E|ENST00000405088,p.G49E|uc003skj.4,p.G261E|ENST00000297508,p.G261E|ENST00000413446,p.G219E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003skj.4	nonsynonymous SNV	exon6	c.G782A	p.G261E	SPKLTGLVPRQPGAMGVDSRTSCSP	SPKLTGLVPRQPEAMGVDSRTSCSP	8.0	3.0	unscreened	-	4110_7:1484924-1484924 C>T_SPKLTGLVPRQPEAMGVDSRTSCSP
2:74074581-74074581 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	STAMBP	NM_213622,p.R148M|uc002sju.3,p.R148M|ENST00000394070,p.R148M|ENST00000536064,p.R148M|ENST00000339566,p.R148M|uc002sjs.3,p.R148M|NM_006463,p.R148M|ENST00000432295,p.R148M|ENST00000424659,p.R148M|ENST00000394073,p.R148M|uc002sjv.3,p.R148M|NM_201647,p.R148M|ENST00000409707,p.R148M	protein_coding, processed_transcript	uc002sjv.3	nonsynonymous SNV	exon5	c.G443T	p.R148M	MAIQQELEKEKQRVAQQKQQQLEQE	MAIQQELEKEKQMVAQQKQQQLEQE	10.0	1.0	unscreened	-	4110_2:74074581-74074581 G>T_MAIQQELEKEKQMVAQQKQQQLEQE
X:48053646-48053646 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	SSX5	ENST00000376923,p.L67F|NM_175723,p.L67F|NM_021015,p.L108F|ENST00000311798,p.L108F|uc004diz.1,p.L108F|ENST00000347757,p.L67F|uc004dja.1,p.L67F	protein_coding	uc004dja.1	nonsynonymous SNV	exon4	c.C199T	p.L67F	YEAMTKLGFKATLPPFMRNKRVADF	YEAMTKLGFKATFPPFMRNKRVADF	1.0	3.0	unscreened	-	4110_X:48053646-48053646 G>A_YEAMTKLGFKATFPPFMRNKRVADF
2:223554128-223554128 C>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	MOGAT1	NM_058165,p.L140F|uc010fwt.1,p.L100F|ENST00000446656,p.L140F|uc010fws.1,p.L140F	protein_coding	uc010fwt.1	nonsynonymous SNV	exon2	c.C298T	p.L100F	DFKDLFPGFTSYLHVLPLWFWCPVF	DFKDLFPGFTSYFHVLPLWFWCPVF	1.0	3.0	unscreened	-	4110_2:223554128-223554128 C>T_DFKDLFPGFTSYFHVLPLWFWCPVF
3:51749176-51749176 A>-	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	GRM2	ENST00000395052,p.S463fs|NM_000839,p.S463fs|uc010hlv.3,p.S463fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hlv.3	frameshift deletion	exon4	c.1387delA	p.S463fs	GRYNIFTYLRAGSGRYRYQKVGYWA	GRYNIFTYLRAGVGAIATRRWATGQKA	1.0	1.0	unscreened	-	4110_3:51749176-51749176 A>-_GRYNIFTYLRAGVGAIATRRWATGQKA
5:80109444-80109444 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	MSH3	NM_002439,p.M899I|uc003kgz.4,p.M899I|ENST00000265081,p.M899I	protein_coding, processed_transcript	uc003kgz.4	nonsynonymous SNV	exon20	c.G2697T	p.M899I	DSERVMIITGPNMGGKSSYIKQVAL	DSERVMIITGPNIGGKSSYIKQVAL	6.0	1.0	unscreened	-	4110_5:80109444-80109444 G>T_DSERVMIITGPNIGGKSSYIKQVAL
15:74631600-74631600 C>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	CYP11A1	uc002axt.2,p.R405Q|uc002axs.2,p.R247Q|uc010bjn.2,p.R128Q|ENST00000358632,p.R247Q|uc010bjm.1,p.R247Q|ENST00000268053,p.R405Q|NM_001099773,p.R247Q|ENST00000419019,p.R247Q|NM_000781,p.R405Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bjn.2	nonsynonymous SNV	exon6	c.G383A	p.R128Q	TLQRYLVNDLVLRDYMIPAKTLVQV	TLQRYLVNDLVLQDYMIPAKTLVQV	2.0	8.0	-	-	4110_15:74631600-74631600 C>T_TLQRYLVNDLVLQDYMIPAKTLVQV
4:162376205-162376205 C>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	FSTL5	NM_001128427,p.V597L|uc003iqi.4,p.V597L|NM_020116,p.V598L|ENST00000536695,p.V597L|ENST00000427802,p.V588L|NM_001128428,p.V588L|ENST00000306100,p.V598L|ENST00000379164,p.V597L|uc010iqv.4,p.V588L|uc003iqh.4,p.V598L	protein_coding, processed_transcript	uc010iqv.4	nonsynonymous SNV	exon14	c.G1762T	p.V588L	IHTQPVGKQFDRVDDFFIPTTTLII	IHTQPVGKQFDRLDDFFIPTTTLII	1.0	10.0	-	-	4110_4:162376205-162376205 C>A_IHTQPVGKQFDRLDDFFIPTTTLII
5:94619681-94619681 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	MCTP1	NM_024717,p.S200F|ENST00000515393,p.S200F|uc003kkx.2,p.S200F	retained_intron, protein_coding, processed_transcript	uc003kkx.2	nonsynonymous SNV	exon1	c.C599T	p.S200F	GPGAHLCHQKSSSLPGTACLEQLLE	GPGAHLCHQKSSFLPGTACLEQLLE	5.0	7.0	-	-	4110_5:94619681-94619681 G>A_GPGAHLCHQKSSFLPGTACLEQLLE
2:179323256-179323256 A>G	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	DFNB59	NM_001042702,p.Q190R|uc002umi.4,p.Q190R|ENST00000409117,p.Q190R|ENST00000375129,p.Q190R|uc002umj.4,p.Q190R	retained_intron, protein_coding, nonsense_mediated_decay	uc002umj.4	nonsynonymous SNV	exon4	c.A569G	p.Q190R	RGEAMRFHFMDEQNPKGRDKAIVFP	RGEAMRFHFMDERNPKGRDKAIVFP	10.0	4.0	unscreened	-	4110_2:179323256-179323256 A>G_RGEAMRFHFMDERNPKGRDKAIVFP
7:50468243-50468243 A>G	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	1	IKZF1	uc003toy.4,p.N451S|NM_001291837,p.N451S|ENST00000349824,p.N350S|NM_006060,p.N493S|NM_001220768,p.N406S|NM_001291839,p.N364S|ENST00000346667,p.N263S|uc022acy.1,p.N300S|NM_001291840,p.N263S|ENST00000331340,p.N493S|ENST00000357364,p.N406S|NM_001291838,p.N406S|uc011kck.2,p.N406S|NM_001220770,p.N354S|NM_001291842,p.N340S|uc022acw.1,p.N364S|uc003toz.4,p.N463S|uc022act.1,p.N396S|uc022acr.1,p.N268S|ENST00000438033,p.N406S|NM_001220771,p.N350S|NM_001220767,p.N396S|ENST00000359197,p.N451S|uc022acu.1,p.N406S|NM_001291844,p.N298S|ENST00000439701,p.N451S|uc022acz.1,p.N310S|uc003tpa.4,p.N258S|uc022acq.1,p.N350S|uc010kyx.3,p.N233S|uc022acs.1,p.N223S|uc022acx.1,p.N406S|ENST00000343574,p.N406S|NM_001291843,p.N308S|uc003tox.4,p.N451S|NM_001291841,p.N350S|uc022acv.1,p.N354S|NM_001220765,p.N451S|uc003tow.4,p.N493S	retained_intron, protein_coding, processed_transcript	uc022acz.1	nonsynonymous SNV	exon5	c.A929G	p.N310S	MGCHGFRDPFECNMCGYHSQDRYEF	MGCHGFRDPFECSMCGYHSQDRYEF	4.0	10.0	-	-	4110_7:50468243-50468243 A>G_MGCHGFRDPFECSMCGYHSQDRYEF
20:36572413-36572413 C>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	VSTM2L	uc002xhk.4,p.H125Y|NM_080607,p.H125Y|ENST00000373461,p.H125Y	protein_coding	uc002xhk.4	nonsynonymous SNV	exon4	c.C373T	p.H125Y	ISVVKVVGSNISHKLRLSRVKPTDE	ISVVKVVGSNISYKLRLSRVKPTDE	1.0	3.0	unscreened	-	4110_20:36572413-36572413 C>T_ISVVKVVGSNISYKLRLSRVKPTDE
20:36572413-36572413 C>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	VSTM2L	ENST00000448944,p.H108Y|ENST00000373458,p.H108Y	protein_coding	ENST00000448944	nonsynonymous SNV	exon3	c.C322T	p.H108Y	NQVVKVVGSNISHKLRLSRVKPTDE	NQVVKVVGSNISYKLRLSRVKPTDE	1.0	3.0	unscreened	-	4110_20:36572413-36572413 C>T_NQVVKVVGSNISYKLRLSRVKPTDE
18:34752963-34752963 C>A	1.0	4110	CHOLANGIOCARCINOMA	0.0005	-	-	-	KIAA1328	uc002lac.1,p.A340E|ENST00000280020,p.A481E|uc002kzz.3,p.A481E|ENST00000586135,p.A233E|ENST00000591619,p.A477E|ENST00000435985,p.A233E|ENST00000543923,p.A373E|NM_020776,p.A481E|uc002lab.3,p.A233E	protein_coding, processed_transcript, nonsense_mediated_decay	uc002lac.1	nonsynonymous SNV	exon5	c.C1019A	p.A340E	PQRGTVTGVRKDASTSPMPTGSLKD	PQRGTVTGVRKDESTSPMPTGSLKD	6.0	10.0	-	-	4110_18:34752963-34752963 C>A_PQRGTVTGVRKDESTSPMPTGSLKD
1:153984763-153984763 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	NUP210L	uc009woq.3,p.F488L|uc010peh.2,p.F1579L|NM_001159484,p.F1579L|uc001fdw.3,p.F1579L|ENST00000368559,p.F1579L|ENST00000271854,p.F1579L|NM_207308,p.F1579L|ENST00000368553,p.F512L	protein_coding	uc010peh.2	nonsynonymous SNV	exon34	c.C4737A	p.F1579L	KTYLTNTLNSTVFKLFITTGRNGVN	KTYLTNTLNSTVLKLFITTGRNGVN	1.0	8.0	-	-	4110_1:153984763-153984763 G>T_KTYLTNTLNSTVLKLFITTGRNGVN
3:19436655-19436655 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	KCNH8	ENST00000328405,p.Q343H|uc011awe.1,p.Q343H|NM_144633,p.Q343H|uc003cbk.1,p.Q343H	protein_coding, processed_transcript, nonsense_mediated_decay	uc011awe.1	nonsynonymous SNV	exon7	c.G1029T	p.Q343H	KTVRLLRLLRLLQKLDRYSQHSTIV	KTVRLLRLLRLLHKLDRYSQHSTIV	1.0	6.0	unscreened	-	4110_3:19436655-19436655 G>T_KTVRLLRLLRLLHKLDRYSQHSTIV
X:69263813-69263813 C>T	0.0	4110	CHOLANGIOCARCINOMA	0	-	ID=COSM1124347;OCCURENCE=3(endometrium)	-	AWAT2	NM_001002254,p.R77H|uc004dxt.1,p.R77H|ENST00000276101,p.R77H	retained_intron, protein_coding, nonsense_mediated_decay	uc004dxt.1	nonsynonymous SNV	exon3	c.G230A	p.R77H	RGGRRFTCVRHWRLWKHYSDYFPLK	RGGRRFTCVRHWHLWKHYSDYFPLK	1.0	10.0	-	-	4110_X:69263813-69263813 C>T_RGGRRFTCVRHWHLWKHYSDYFPLK
12:29911653-29911653 A>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	TMTC1	NM_001193451,p.F180I|ENST00000539277,p.F180I|ENST00000551659,p.F180I|uc001rjc.1,p.F72I|ENST00000381224,p.F72I|ENST00000256062,p.F72I|NM_175861,p.F72I|ENST00000552618,p.F180I|uc001rjb.3,p.F72I|uc021qwi.1,p.F180I	retained_intron, protein_coding, processed_transcript	uc021qwi.1	nonsynonymous SNV	exon3	c.T538A	p.F180I	ADVLACLLFLLAFLSYNRSLDQGCV	ADVLACLLFLLAILSYNRSLDQGCV	4.0	9.0	-	-	4110_12:29911653-29911653 A>T_ADVLACLLFLLAILSYNRSLDQGCV
2:179590713-179590713 C>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	TTN	uc021vsy.2,p.S5535I|ENST00000591111,p.S6462I|uc031rqc.1,p.S6779I|ENST00000342992,p.S5535I|NM_001256850,p.S6462I|ENST00000589042,p.S6779I|uc031rqd.1,p.S6462I|uc002umz.1,p.S2196I|NM_133378,p.S5535I|NM_001267550,p.S6779I	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon68	c.G19385T	p.S6462I	PPIVETLKNAEVSLECELSGTPPFE	PPIVETLKNAEVILECELSGTPPFE	2.0	7.0	unscreened	-	4110_2:179590713-179590713 C>A_PPIVETLKNAEVILECELSGTPPFE
1:185985306-185985306 A>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	HMCN1	ENST00000271588,p.Q1709L|ENST00000367492,p.Q1709L|NM_031935,p.Q1709L|uc001grq.1,p.Q1709L	protein_coding, processed_transcript	uc001grq.1	nonsynonymous SNV	exon32	c.A5126T	p.Q1709L	LEIMSAQEIDRGQYICVATSVAGEK	LEIMSAQEIDRGLYICVATSVAGEK	2.0	2.0	unscreened	-	4110_1:185985306-185985306 A>T_LEIMSAQEIDRGLYICVATSVAGEK
X:70149825-70149825 C>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	SLC7A3	NM_032803,p.R8I|NM_001048164,p.R8I|ENST00000374299,p.R8I|uc004dyo.3,p.R8I|ENST00000298085,p.R8I|uc004dyn.3,p.R8I	protein_coding	uc004dyo.3	nonsynonymous SNV	exon2	c.G23T	p.R8I	MPWQAFRRFGQKLVRRRTLE	MPWQAFRIFGQKLVRRRTLE	1.0	9.0	unscreened	-	4110_X:70149825-70149825 C>A_MPWQAFRIFGQKLVRRRTLE
2:230252999-230252999 C>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	DNER	NM_139072,p.G613R|ENST00000341772,p.G613R|uc002vpv.3,p.G613R	protein_coding, processed_transcript	uc002vpv.3	nonsynonymous SNV	exon11	c.G1837A	p.G613R	NGYNCHCPHGWVGANCEIHLQWKSG	NGYNCHCPHGWVRANCEIHLQWKSG	8.0	4.0	unscreened	-	4110_2:230252999-230252999 C>T_NGYNCHCPHGWVRANCEIHLQWKSG
10:120801596-120801596 C>T	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	EIF3A	uc010qsu.2,p.D1112N|uc009xzg.1,p.D185N|NM_003750,p.D1146N|ENST00000369144,p.D1146N|ENST00000541549,p.D1112N|uc001ldu.3,p.D1146N	protein_coding, processed_transcript	uc010qsu.2	nonsynonymous SNV	exon19	c.G3334A	p.D1112N	EDDRGPWRNMDDDRLSRRADDDRFP	EDDRGPWRNMDDNRLSRRADDDRFP	10.0	9.0	unscreened	-	4110_10:120801596-120801596 C>T_EDDRGPWRNMDDNRLSRRADDDRFP
6:168442754-168442754 C>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	KIF25	NM_030615,p.P251L|uc003qwl.1,p.P251L|ENST00000351261,p.P251L|uc003qwk.1,p.P251L|NM_005355,p.P251L|ENST00000443060,p.P251L|ENST00000354419,p.P251L	retained_intron, protein_coding, processed_transcript	uc003qwl.1	nonsynonymous SNV	exon7	c.C752T	p.P251L	RASQGALAPQLVPGNPAGHAEQVQA	RASQGALAPQLVLGNPAGHAEQVQA	4.0	9.0	-	-	4110_6:168442754-168442754 C>T_RASQGALAPQLVLGNPAGHAEQVQA
11:5878238-5878238 C>G	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	OR52E8	ENST00000537935,p.C232S|uc010qzr.2,p.C232S|NM_001005168,p.C232S	protein_coding	uc010qzr.2	nonsynonymous SNV	exon1	c.G695C	p.C232S	ILSYVRILYAVFCLPSWEARLKALN	ILSYVRILYAVFSLPSWEARLKALN	1.0	9.0	unscreened	-	4110_11:5878238-5878238 C>G_ILSYVRILYAVFSLPSWEARLKALN
17:48917353-48917353 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	WFIKKN2	NM_175575,p.G235V|ENST00000426127,p.G142V|ENST00000311378,p.G235V|uc010dbu.3,p.G142V|uc002isv.4,p.G235V	protein_coding	uc010dbu.3	nonsynonymous SNV	exon2	c.G425T	p.G142V	MGETVSFLCDVVGRPRPEITWEKQL	MGETVSFLCDVVVRPRPEITWEKQL	3.0	1.0	unscreened	-	4110_17:48917353-48917353 G>T_MGETVSFLCDVVVRPRPEITWEKQL
20:13839947-13839947 A>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	SEL1L2	ENST00000284951,p.N593K|uc002woq.5,p.N454K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002woq.5	nonsynonymous SNV	exon19	c.T1362A	p.N454K	AANKYHNAQAMFNLAYMYEHGLGIT	AANKYHNAQAMFKLAYMYEHGLGIT	1.0	5.0	unscreened	-	4110_20:13839947-13839947 A>T_AANKYHNAQAMFKLAYMYEHGLGIT
15:43548824-43548824 C>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	TGM5	ENST00000349114,p.G84D|NM_004245,p.G84D|NM_201631,p.G166D|ENST00000220420,p.G166D|uc001zrd.2,p.G166D|uc001zre.2,p.G84D	retained_intron, protein_coding	uc001zre.2	nonsynonymous SNV	exon3	c.G251A	p.G84D	EPQRQEYVMNDYGFIYQGSKNWIRP	EPQRQEYVMNDYDFIYQGSKNWIRP	3.0	2.0	unscreened	-	4110_15:43548824-43548824 C>T_EPQRQEYVMNDYDFIYQGSKNWIRP
11:18158888-18158888 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	MRGPRX3	NM_054031,p.V47F|uc021qek.1,p.V47F|ENST00000396275,p.V47F|uc001mnu.3,p.V47F|ENST00000531264,p.V47F	protein_coding	uc021qek.1	nonsynonymous SNV	exon1	c.G139T	p.V47F	CIVSLVALTGNAVVLWLLGCRMRRN	CIVSLVALTGNAFVLWLLGCRMRRN	1.0	2.0	unscreened	-	4110_11:18158888-18158888 G>T_CIVSLVALTGNAFVLWLLGCRMRRN
12:47163076-47163076 C>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	SLC38A4	NM_001143824,p.G479R|NM_018018,p.G479R|uc001rpi.2,p.G479R|ENST00000447411,p.G479R|ENST00000266579,p.G479R|uc001rpj.2,p.G479R	protein_coding	uc001rpj.2	nonsynonymous SNV	exon14	c.G1435A	p.G479R	LVILVPTIKYIFGFIGASSATMLIF	LVILVPTIKYIFRFIGASSATMLIF	5.0	9.0	-	-	4110_12:47163076-47163076 C>T_LVILVPTIKYIFRFIGASSATMLIF
10:112356189-112356189 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	SMC3	ENST00000361804,p.G666E|NM_005445,p.G666E|uc001kze.3,p.G666E	protein_coding, processed_transcript	uc001kze.3	nonsynonymous SNV	exon19	c.G1997A	p.G666E	EGDQVSHRGALTGGYYDTRKSRLEL	EGDQVSHRGALTEGYYDTRKSRLEL	8.0	6.0	-	-	4110_10:112356189-112356189 G>A_EGDQVSHRGALTEGYYDTRKSRLEL
16:25228757-25228757 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	AQP8	ENST00000566125,p.G78E|ENST00000219660,p.G84E|NM_001169,p.G84E|uc002doc.3,p.G84E	protein_coding	uc002doc.3	nonsynonymous SNV	exon2	c.G251A	p.G84E	HGLALGLVIATLGNISGGHFNPAVS	HGLALGLVIATLENISGGHFNPAVS	1.0	3.0	unscreened	-	4110_16:25228757-25228757 G>A_HGLALGLVIATLENISGGHFNPAVS
3:97983843-97983843 T>C	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	OR5H6	uc003dsi.1,p.F239L|NM_001005479,p.F239L|ENST00000383696,p.F239L	protein_coding	uc003dsi.1	nonsynonymous SNV	exon1	c.T715C	p.F239L	IGTILISYTIILFTILEKKSIKGIR	IGTILISYTIILLTILEKKSIKGIR	1.0	5.0	-	-	4110_3:97983843-97983843 T>C_IGTILISYTIILLTILEKKSIKGIR
1:156268693-156268693 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	VHLL	ENST00000339922,p.S96R|NM_001004319,p.S96R|uc001fok.3,p.S96R	protein_coding	uc001fok.3	nonsynonymous SNV	exon1	c.C288A	p.S96R	LPGRDFRIHNFRSHPWLFRDARTHD	LPGRDFRIHNFRRHPWLFRDARTHD	1.0	4.0	unscreened	-	4110_1:156268693-156268693 G>T_LPGRDFRIHNFRRHPWLFRDARTHD
1:43638007-43638007 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	EBNA1BP2	ENST00000431635,p.P29Q|NM_001159936,p.P29Q|uc001cio.3,p.P29Q|uc010ojx.2,p.P29Q	protein_coding, processed_transcript	uc010ojx.2	nonsynonymous SNV	exon1	c.C86A	p.P29Q	FKRRSGSYSNDKPEVWFAAGSGSPN	FKRRSGSYSNDKQEVWFAAGSGSPN	10.0	2.0	unscreened	-	4110_1:43638007-43638007 G>T_FKRRSGSYSNDKQEVWFAAGSGSPN
5:176813558-176813558 T>C	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	SLC34A1	uc003mgk.4,p.S175P|ENST00000512593,p.S175P|uc021yis.1,p.S175P|ENST00000324417,p.S175P|NM_003052,p.S175P|NM_001167579,p.S175P	retained_intron, protein_coding, processed_transcript	uc021yis.1	nonsynonymous SNV	exon5	c.T523C	p.S175P	SSTSTSIIVSMVSSGLLEVSSAIPI	SSTSTSIIVSMVPSGLLEVSSAIPI	1.0	6.0	-	-	4110_5:176813558-176813558 T>C_SSTSTSIIVSMVPSGLLEVSSAIPI
1:156222833-156222833 G>A	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	SMG5	uc001foc.4,p.P847S|ENST00000361813,p.P847S|NM_015327,p.P847S	protein_coding, processed_transcript	uc001foc.4	nonsynonymous SNV	exon18	c.C2539T	p.P847S	LEVSQLEGSLQQPKAQSAMSPYLVP	LEVSQLEGSLQQSKAQSAMSPYLVP	8.0	2.0	unscreened	-	4110_1:156222833-156222833 G>A_LEVSQLEGSLQQSKAQSAMSPYLVP
17:7907071-7907071 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	GUCY2D	uc002gjt.2,p.G236R|NM_000180,p.G236R|ENST00000254854,p.G236R	retained_intron, protein_coding	uc002gjt.2	nonsynonymous SNV	exon2	c.G706A	p.G236R	SGAREALRKVRDGPRVTAVIMVMHS	SGAREALRKVRDRPRVTAVIMVMHS	3.0	1.0	unscreened	-	4110_17:7907071-7907071 G>A_SGAREALRKVRDRPRVTAVIMVMHS
1:157659596-157659596 C>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	FCRL3	uc001fra.3,p.R327K|ENST00000477837,p.R506K|uc001frb.3,p.R601K|uc001frc.1,p.R601K|ENST00000492769,p.R607K|uc001fqz.4,p.R601K|ENST00000485028,p.R601K|ENST00000368186,p.R601K|NM_052939,p.R601K|ENST00000368184,p.R601K	protein_coding, processed_transcript, nonsense_mediated_decay	uc001frc.1	nonsynonymous SNV	exon10	c.G1802A	p.R601K	AAAALLHYARARRKPGGLSATGTSS	AAAALLHYARARKKPGGLSATGTSS	2.0	5.0	-	-	4110_1:157659596-157659596 C>T_AAAALLHYARARKKPGGLSATGTSS
17:17068716-17068716 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	MPRIP	uc002gqy.2,p.G113R|uc002gqx.2,p.G113R	retained_intron, protein_coding, processed_transcript	uc002gqy.2	nonsynonymous SNV	exon1	c.G337A	p.G113R	PHTRLEDEDEDLGAPPGEEYGDGSP	PHTRLEDEDEDLRAPPGEEYGDGSP	9.0	1.0	unscreened	-	4110_17:17068716-17068716 G>A_PHTRLEDEDEDLRAPPGEEYGDGSP
X:114427080-114427080 C>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	RBMXL3	ENST00000424776,p.P1026S|uc011mte.1,p.P1026S|NM_001145346,p.P1026S	protein_coding	uc011mte.1	nonsynonymous SNV	exon1	c.C3076T	p.P1026S	GRDRVGRPDRGLPLPMETGSPPLHD	GRDRVGRPDRGLSLPMETGSPPLHD	1.0	5.0	-	-	4110_X:114427080-114427080 C>T_GRDRVGRPDRGLSLPMETGSPPLHD
2:84756168-84756168 A>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	DNAH6	uc010fgb.3,p.K180N|NM_001370,p.K180N|ENST00000389394,p.K180N|ENST00000237449,p.K180N|ENST00000398278,p.K180N	retained_intron, protein_coding, processed_transcript	uc010fgb.3	nonsynonymous SNV	exon4	c.A540T	p.K180N	PKYTFHDREEVVKANIRDPLQIIKI	PKYTFHDREEVVNANIRDPLQIIKI	6.0	1.0	unscreened	-	4110_2:84756168-84756168 A>T_PKYTFHDREEVVNANIRDPLQIIKI
10:120801595-120801595 ->TATCATCCA	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	EIF3A	uc001ldu.3,p.D1146delinsVDDN|uc010qsu.2,p.D1112delinsVDDN|ENST00000369144,p.D1146delinsVDDN|uc009xzg.1,p.D185delinsVDDN|ENST00000541549,p.D1112delinsVDDN|NM_003750,p.D1146delinsVDDN	protein_coding, processed_transcript	uc010qsu.2	nonframeshift insertion	exon19	c.3334_3335insTGGATGATA	p.D1112delinsVDDN	EDDRGPWRNMDDDRLSRRADDDRFP	EDDRGPWRNMDDVDDNRLSRRADDD	10.0	9.0	unscreened	-	4110_10:120801595-120801595 ->TATCATCCA_EDDRGPWRNMDDVDDNRLSRRADDD
2:70162513-70162513 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	MXD1	ENST00000264444,p.K78N|ENST00000435990,p.K46N|uc010yqq.2,p.K15N|uc002sfy.3,p.K78N|uc010yqp.2,p.K78N|NM_002357,p.K78N|NM_001202513,p.K78N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yqq.2	nonsynonymous SNV	exon4	c.G45T	p.K15N	KNRRAHLRLCLEKLKGLVPLGPESS	KNRRAHLRLCLENLKGLVPLGPESS	5.0	4.0	unscreened	-	4110_2:70162513-70162513 G>T_KNRRAHLRLCLENLKGLVPLGPESS
2:70162513-70162513 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	MXD1	ENST00000409442,p.K36N|ENST00000540449,p.K68N|uc010yqs.2,p.K68N|NM_001202514,p.K68N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yqs.2	nonsynonymous SNV	exon3	c.G204T	p.K68N	SSRRAHLRLCLEKLKGLVPLGPESS	SSRRAHLRLCLENLKGLVPLGPESS	5.0	4.0	unscreened	-	4110_2:70162513-70162513 G>T_SSRRAHLRLCLENLKGLVPLGPESS
11:125885301-125885301 A>C	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	CDON	ENST00000263577,p.W345G|uc001qdc.4,p.W345G|NM_016952,p.W345G|uc009zbx.3,p.W345G|ENST00000392693,p.W345G|NM_001243597,p.W345G|uc009zbw.3,p.W345G	retained_intron, protein_coding, nonsense_mediated_decay	uc009zbx.3	nonsynonymous SNV	exon7	c.T1033G	p.W345G	CDVHGNPAPNCTWFHNAQPIHPSAR	CDVHGNPAPNCTGFHNAQPIHPSAR	6.0	1.0	unscreened	-	4110_11:125885301-125885301 A>C_CDVHGNPAPNCTGFHNAQPIHPSAR
7:139168317-139168317 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	KLRG2	NM_198508,p.S24R|ENST00000393039,p.S24R|uc010lnc.3,p.S24R|uc003vvb.3,p.S24R|ENST00000340940,p.S24R	protein_coding	uc010lnc.3	nonsynonymous SNV	exon1	c.C72A	p.S24R	QAGAELPMEPVGSLVPTLEQPQVPA	QAGAELPMEPVGRLVPTLEQPQVPA	1.0	4.0	unscreened	-	4110_7:139168317-139168317 G>T_QAGAELPMEPVGRLVPTLEQPQVPA
1:29030799-29030799 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	GMEB1	NM_024482,p.G276R|ENST00000294409,p.G286R|ENST00000361872,p.G276R|uc001bra.3,p.G286R|uc001brb.3,p.G276R|ENST00000373816,p.G276R|uc001bqz.3,p.G276R|NM_006582,p.G286R	protein_coding, processed_transcript	uc001brb.3	nonsynonymous SNV	exon8	c.G826A	p.G276R	CNIQKEIEELLRGVQQRLIQAPFQV	CNIQKEIEELLRRVQQRLIQAPFQV	5.0	5.0	unscreened	-	4110_1:29030799-29030799 G>A_CNIQKEIEELLRRVQQRLIQAPFQV
14:103592837-103592837 G>C	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	TNFAIP2	NM_006291,p.A15P|ENST00000558056,p.A15P|ENST00000559406,p.A15P|ENST00000560562,p.A15P|uc001ymm.1,p.A15P|ENST00000333007,p.A15P|ENST00000560869,p.A15P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ymm.1	nonsynonymous SNV	exon1	c.G43C	p.A15P	EASSEDLVPPLEAGAAPYREEEEAA	EASSEDLVPPLEPGAAPYREEEEAA	9.0	1.0	unscreened	-	4110_14:103592837-103592837 G>C_EASSEDLVPPLEPGAAPYREEEEAA
14:69993971-69993971 C>G	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	PLEKHD1	ENST00000322564,p.L375V|uc010ttf.1,p.L375V|NM_001161498,p.L375V	retained_intron, protein_coding	uc010ttf.1	nonsynonymous SNV	exon11	c.C1123G	p.L375V	RRLREAEGALRSLEQGLNSKVRNKE	RRLREAEGALRSVEQGLNSKVRNKE	1.0	1.0	unscreened	-	4110_14:69993971-69993971 C>G_RRLREAEGALRSVEQGLNSKVRNKE
12:130184885-130184885 C>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	TMEM132D	ENST00000422113,p.Q146H|uc009zyl.1,p.Q146H|NM_133448,p.Q146H	protein_coding	uc009zyl.1	nonsynonymous SNV	exon2	c.G438T	p.Q146H	LRDKVYLSRPKVQVLFHIMGRDWDD	LRDKVYLSRPKVHVLFHIMGRDWDD	1.0	6.0	unscreened	-	4110_12:130184885-130184885 C>A_LRDKVYLSRPKVHVLFHIMGRDWDD
19:49931224-49931224 C>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	GFY	uc021uxm.1,p.P402L|ENST00000576655,p.P402L|NM_001195256,p.P402L	protein_coding	uc021uxm.1	nonsynonymous SNV	exon2	c.C1205T	p.P402L	RVKETGVTLVGRPRGAAGGALCLFF	RVKETGVTLVGRLRGAAGGALCLFF	2.0	2.0	unscreened	-	4110_19:49931224-49931224 C>T_RVKETGVTLVGRLRGAAGGALCLFF
5:94848268-94848268 T>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	TTC37	ENST00000358746,p.S945C|uc003klb.3,p.S945C|NM_014639,p.S945C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003klb.3	nonsynonymous SNV	exon28	c.A2833T	p.S945C	YAYWVCTTLQDKSNRETELYQYNIL	YAYWVCTTLQDKCNRETELYQYNIL	9.0	1.0	unscreened	-	4110_5:94848268-94848268 T>A_YAYWVCTTLQDKCNRETELYQYNIL
3:51749177-51749177 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	GRM2	ENST00000442933,p.S463I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000442933	nonsynonymous SNV	exon3	c.G1388T	p.S463I	GRYNIFTYLRAGSGRYRYQKTRKCP	GRYNIFTYLRAGIGRYRYQKTRKCP	1.0	1.0	unscreened	-	4110_3:51749177-51749177 G>T_GRYNIFTYLRAGIGRYRYQKTRKCP
17:48917352-48917352 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	WFIKKN2	ENST00000426127,p.G142C|ENST00000311378,p.G235C|NM_175575,p.G235C|uc002isv.4,p.G235C|uc010dbu.3,p.G142C	protein_coding	uc010dbu.3	nonsynonymous SNV	exon2	c.G424T	p.G142C	MGETVSFLCDVVGRPRPEITWEKQL	MGETVSFLCDVVCRPRPEITWEKQL	3.0	1.0	unscreened	-	4110_17:48917352-48917352 G>T_MGETVSFLCDVVCRPRPEITWEKQL
1:62739601-62739601 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	KANK4	uc001dah.4,p.A392D|ENST00000371153,p.A392D|NM_181712,p.A392D	protein_coding	uc001dah.4	nonsynonymous SNV	exon3	c.C1175A	p.A392D	REQRIRELEFTVAQLEGQFHQENAK	REQRIRELEFTVDQLEGQFHQENAK	3.0	5.0	-	-	4110_1:62739601-62739601 G>T_REQRIRELEFTVDQLEGQFHQENAK
7:148288145-148288145 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	C7orf33	NM_145304,p.R43K|uc003wew.3,p.R43K|ENST00000307003,p.R43K	protein_coding	uc003wew.3	nonsynonymous SNV	exon1	c.G128A	p.R43K	GARRRIDLRLSGRAVAVWVHVRGGP	GARRRIDLRLSGKAVAVWVHVRGGP	1.0	2.0	unscreened	-	4110_7:148288145-148288145 G>A_GARRRIDLRLSGKAVAVWVHVRGGP
2:43800098-43800098 C>A	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	THADA	ENST00000474159,p.L348F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000474159	nonsynonymous SNV	exon10	c.G1044T	p.L348F	TAHVLFTLSSQVL	TAHVLFTLSSQVF	8.0	8.0	unscreened	-	4110_2:43800098-43800098 C>A_TAHVLFTLSSQVF
13:100617811-100617811 G>T	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	ZIC5	NM_033132,p.D604E|uc001vom.1,p.D604E|ENST00000267294,p.D604E	protein_coding	uc001vom.1	nonsynonymous SNV	exon2	c.C1812A	p.D604E	GTPVGAPLSPVLDPARSHSSTLSPQ	GTPVGAPLSPVLEPARSHSSTLSPQ	3.0	9.0	-	-	4110_13:100617811-100617811 G>T_GTPVGAPLSPVLEPARSHSSTLSPQ
19:22575731-22575731 A>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	ID=COSM303657,COSM303658;OCCURENCE=1(central_nervous_system),1(large_intestine)	-	ZNF98	uc002nqt.2,p.N102K|ENST00000593657,p.N61K|NM_001098626,p.N102K|ENST00000357774,p.N102K	protein_coding, processed_transcript	uc002nqt.2	nonsynonymous SNV	exon4	c.T306A	p.N102K	FAQDLWPKQGKKNYFQKVILRTYKK	FAQDLWPKQGKKKYFQKVILRTYKK	4.0	10.0	-	-	4110_19:22575731-22575731 A>T_FAQDLWPKQGKKKYFQKVILRTYKK
18:43420206-43420206 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	SIGLEC15	ENST00000587418,p.V72I	retained_intron, protein_coding, processed_transcript	ENST00000587418	nonsynonymous SNV	exon3	c.G214A	p.V72I	AQSIWTPRTPHHVPQPVLCPCLLIY	AQSIWTPRTPHHIPQPVLCPCLLIY	3.0	10.0	unscreened	-	4110_18:43420206-43420206 G>A_AQSIWTPRTPHHIPQPVLCPCLLIY
15:78466831-78466831 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	ACSBG1	NM_001199377,p.P576S|ENST00000258873,p.P580S|ENST00000541759,p.P338S|uc002bdh.3,p.P580S|ENST00000560817,p.P338S|uc010umx.2,p.P338S|NM_015162,p.P580S|uc010umw.2,p.P576S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010umx.2	nonsynonymous SNV	exon8	c.C1012T	p.P338S	ELIITAGGENVPPVPIEEAVKMELP	ELIITAGGENVPSVPIEEAVKMELP	2.0	10.0	-	-	4110_15:78466831-78466831 G>A_ELIITAGGENVPSVPIEEAVKMELP
7:122269381-122269381 A>C	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	CADPS2	NM_001167940,p.L263R|uc022akr.1,p.L263R|ENST00000449022,p.L263R|ENST00000412584,p.L263R|uc022akp.1,p.L263R|NM_017954,p.L263R|ENST00000334010,p.L263R|ENST00000313070,p.L263R|NM_001009571,p.L263R|uc010lkq.3,p.L263R|uc022akq.1,p.L263R	protein_coding, processed_transcript	uc022akr.1	nonsynonymous SNV	exon4	c.T788G	p.L263R	KLEHQLLYNACQLDNADEQAAQIRR	KLEHQLLYNACQRDNADEQAAQIRR	9.0	4.0	unscreened	-	4110_7:122269381-122269381 A>C_KLEHQLLYNACQRDNADEQAAQIRR
2:74074580-74074580 A>G	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	STAMBP	uc002sjv.3,p.R148G|ENST00000536064,p.R148G|ENST00000394073,p.R148G|uc002sjs.3,p.R148G|NM_213622,p.R148G|ENST00000339566,p.R148G|ENST00000394070,p.R148G|NM_201647,p.R148G|uc002sju.3,p.R148G|ENST00000409707,p.R148G|NM_006463,p.R148G|ENST00000424659,p.R148G|ENST00000432295,p.R148G	protein_coding, processed_transcript	uc002sjv.3	nonsynonymous SNV	exon5	c.A442G	p.R148G	MAIQQELEKEKQRVAQQKQQQLEQE	MAIQQELEKEKQGVAQQKQQQLEQE	10.0	1.0	unscreened	-	4110_2:74074580-74074580 A>G_MAIQQELEKEKQGVAQQKQQQLEQE
8:113293441-113293441 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	2	CSMD3	NM_198123,p.A3157D|uc011lhx.2,p.A2988D|uc003yns.3,p.A2359D|uc003ynu.3,p.A3157D|ENST00000352409,p.A3087D|ENST00000343508,p.A3117D|NM_198124,p.A3117D|ENST00000455883,p.A2988D|uc003ynt.3,p.A3117D|ENST00000339701,p.A2427D|NM_052900,p.A2988D|ENST00000297405,p.A3157D	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon57	c.C8963A	p.A2988D	YILSGPSVRQCTANGTWSGTLPNCT	YILSGPSVRQCTDNGTWSGTLPNCT	1.0	4.0	unscreened	-	4110_8:113293441-113293441 G>T_YILSGPSVRQCTDNGTWSGTLPNCT
10:13237123-13237123 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	MCM10	ENST00000378694,p.G610R|NM_182751,p.G611R|ENST00000484800,p.G611R|ENST00000378714,p.G610R|NM_018518,p.G610R|uc001imc.3,p.G610R|uc001imb.3,p.G610R|uc001ima.3,p.G611R	retained_intron, protein_coding	uc001imc.3	nonsynonymous SNV	exon14	c.G1828A	p.G610R	SSRQPPAQPPRTGSEFPRLEGAPAT	SSRQPPAQPPRTRSEFPRLEGAPAT	7.0	2.0	unscreened	-	4110_10:13237123-13237123 G>A_SSRQPPAQPPRTRSEFPRLEGAPAT
6:132910728-132910728 A>C	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	TAAR5	NM_003967,p.I33S|uc003qdk.2,p.I33S|ENST00000258034,p.I33S	protein_coding	uc003qdk.2	nonsynonymous SNV	exon1	c.T98G	p.I33S	NGSCPRTVHTLGIQLVIYLACAAGM	NGSCPRTVHTLGSQLVIYLACAAGM	1.0	9.0	-	-	4110_6:132910728-132910728 A>C_NGSCPRTVHTLGSQLVIYLACAAGM
6:157522259-157522259 C>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	1	ARID1B	uc003qqp.3,p.Q1498K|uc003qqn.3,p.Q1551K|ENST00000367148,p.Q1551K|ENST00000275248,p.Q1493K|ENST00000414678,p.Q1020K|uc003qqo.3,p.Q1511K|NM_020732,p.Q1511K|NM_017519,p.Q1498K|ENST00000350026,p.Q1498K|ENST00000346085,p.Q1511K	retained_intron, protein_coding, processed_transcript	uc003qqp.3	nonsynonymous SNV	exon17	c.C4492A	p.Q1498K	MMVPDQRINHESQWPSHVSQRQPYM	MMVPDQRINHESKWPSHVSQRQPYM	6.0	8.0	-	-	4110_6:157522259-157522259 C>A_MMVPDQRINHESKWPSHVSQRQPYM
8:143921899-143921899 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	GML	uc003yxg.3,p.A16S|ENST00000522728,p.A16S|NM_002066,p.A16S|ENST00000220940,p.A16S	protein_coding	uc003yxg.3	nonsynonymous SNV	exon2	c.G46T	p.A16S	FALLLAMELPLVAASATMRAQWTYS	FALLLAMELPLVSASATMRAQWTYS	1.0	8.0	-	-	4110_8:143921899-143921899 G>T_FALLLAMELPLVSASATMRAQWTYS
X:101911039-101911039 A>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	GPRASP1	ENST00000415986,p.D733V|NM_014710,p.D733V|uc004eji.4,p.D733V|NM_001099411,p.D733V|NM_001184727,p.D733V|ENST00000361600,p.D733V|uc022cbc.1,p.D733V|NM_001099410,p.D733V|uc010nod.3,p.D733V|ENST00000537097,p.D733V|ENST00000444152,p.D733V|uc004ejj.4,p.D733V|uc022cbd.1,p.D733V	protein_coding, processed_transcript	uc022cbd.1	nonsynonymous SNV	exon1	c.A2198T	p.D733V	GSWLWATEESNIDGTGEKAKLLTEE	GSWLWATEESNIVGTGEKAKLLTEE	4.0	2.0	unscreened	-	4110_X:101911039-101911039 A>T_GSWLWATEESNIVGTGEKAKLLTEE
17:8243591-8243591 C>G	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	ODF4	ENST00000328248,p.H74Q|uc002gle.1,p.H74Q|NM_153007,p.H74Q	protein_coding	uc002gle.1	nonsynonymous SNV	exon1	c.C222G	p.H74Q	QNSPLPFQWRITHSFRWMAQVLASE	QNSPLPFQWRITQSFRWMAQVLASE	1.0	9.0	-	-	4110_17:8243591-8243591 C>G_QNSPLPFQWRITQSFRWMAQVLASE
7:100681079-100681079 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	MUC17	NM_001040105,p.D2128N|ENST00000379439,p.D2128N|ENST00000306151,p.D2128N|uc003uxp.1,p.D2128N	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.G6382A	p.D2128N	SPEASTLSTTPVDSNSPVITSTEVS	SPEASTLSTTPVNSNSPVITSTEVS	1.0	10.0	-	-	4110_7:100681079-100681079 G>A_SPEASTLSTTPVNSNSPVITSTEVS
12:109703255-109703255 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	ACACB	uc001tob.3,p.G2392E|ENST00000377854,p.G2322E|NM_001093,p.G2392E|ENST00000377848,p.G2392E|uc010sxm.2,p.G1058E|ENST00000338432,p.G2392E|uc001toc.3,p.G2392E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sxm.2	nonsynonymous SNV	exon25	c.G3173A	p.G1058E	VVVQWLEQHWQAGDGPRSTIRENIT	VVVQWLEQHWQAEDGPRSTIRENIT	5.0	3.0	unscreened	-	4110_12:109703255-109703255 G>A_VVVQWLEQHWQAEDGPRSTIRENIT
X:3228536-3228536 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	MXRA5	NM_015419,p.P2570S|uc004crg.4,p.P2570S|ENST00000217939,p.P2570S	protein_coding	uc004crg.4	nonsynonymous SNV	exon7	c.C7708T	p.P2570S	HTISLNCSAAGTPTPSLVWVLPNGT	HTISLNCSAAGTSTPSLVWVLPNGT	4.0	2.0	unscreened	-	4110_X:3228536-3228536 G>A_HTISLNCSAAGTSTPSLVWVLPNGT
9:19049855-19049855 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	RRAGA	uc003znj.3,p.Q66H|NM_006570,p.Q66H|ENST00000380527,p.Q66H	protein_coding	uc003znj.3	nonsynonymous SNV	exon1	c.G198T	p.Q66H	GNLVLNLWDCGGQDTFMENYFTSQR	GNLVLNLWDCGGHDTFMENYFTSQR	7.0	4.0	unscreened	-	4110_9:19049855-19049855 G>T_GNLVLNLWDCGGHDTFMENYFTSQR
16:4812631-4812631 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	ZNF500	NM_021646,p.P181S|uc002cxp.1,p.P181S|ENST00000545009,p.P181S|ENST00000219478,p.P181S|uc010uxt.1,p.P181S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010uxt.1	nonsynonymous SNV	exon3	c.C541T	p.P181S	SLEEEARFSSQQPPAQLSHRPQRGP	SLEEEARFSSQQSPAQLSHRPQRGP	6.0	5.0	unscreened	-	4110_16:4812631-4812631 G>A_SLEEEARFSSQQSPAQLSHRPQRGP
3:51749177-51749177 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	GRM2	uc010hlv.3,p.S463I|ENST00000395052,p.S463I|NM_000839,p.S463I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hlv.3	nonsynonymous SNV	exon4	c.G1388T	p.S463I	GRYNIFTYLRAGSGRYRYQKVGYWA	GRYNIFTYLRAGIGRYRYQKVGYWA	1.0	1.0	unscreened	-	4110_3:51749177-51749177 G>T_GRYNIFTYLRAGIGRYRYQKVGYWA
5:137537107-137537107 T>C	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	CDC23	uc003lcl.3,p.E149G|NM_004661,p.E149G	retained_intron, protein_coding, nonsense_mediated_decay	uc003lcl.3	nonsynonymous SNV	exon5	c.A446G	p.E149G	SLGPLEKGQVKNEALRELRVELSKK	SLGPLEKGQVKNGALRELRVELSKK	9.0	3.0	unscreened	-	4110_5:137537107-137537107 T>C_SLGPLEKGQVKNGALRELRVELSKK
12:70003861-70003861 C>G	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	LRRC10	NM_201550,p.R253T|uc001svc.3,p.R253T|ENST00000361484,p.R253T	protein_coding	uc001svc.3	nonsynonymous SNV	exon1	c.G758C	p.R253T	AEETPEPDPRKARRYALVREESQEL	AEETPEPDPRKATRYALVREESQEL	1.0	2.0	unscreened	-	4110_12:70003861-70003861 C>G_AEETPEPDPRKATRYALVREESQEL
19:54872765-54872765 ->G	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	LAIR1	ENST00000391741,p.L41fs|NM_001289025,p.L40fs|uc010yex.2,p.L34fs|uc002qfn.1,p.L40fs|uc002qfk.1,p.L41fs|ENST00000438193,p.L35fs|NM_002287,p.L41fs|NM_001289023,p.L40fs|uc002qfo.3,p.L23fs|NM_021706,p.L41fs|NM_001289027,p.L23fs|ENST00000391742,p.L41fs|ENST00000474878,p.L40fs|uc002qfm.1,p.L40fs|ENST00000391743,p.L23fs|ENST00000418556,p.L41fs|NM_001289026,p.L34fs|ENST00000313038,p.L34fs|ENST00000348231,p.L41fs|ENST00000434277,p.L40fs|uc002qfl.1,p.L41fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yex.2	frameshift insertion	exon3	c.100dupC	p.L34fs	PSISAEPGTVIPLGSHVTFVCRGPV	PSISAEPGTVIPPGEPCDFRVPGPGWGSNIPPGEGE	6.0	9.0	-	-	4110_19:54872765-54872765 ->G_PSISAEPGTVIPPGEPCDFRVPGPGWGSNIPPGEGE
2:179590712-179590712 A>C	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	TTN	uc031rqc.1,p.S6779R|uc031rqd.1,p.S6462R|ENST00000591111,p.S6462R|ENST00000342992,p.S5535R|NM_001267550,p.S6779R|NM_001256850,p.S6462R|ENST00000589042,p.S6779R|uc021vsy.2,p.S5535R|NM_133378,p.S5535R|uc002umz.1,p.S2196R	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon68	c.T19386G	p.S6462R	PPIVETLKNAEVSLECELSGTPPFE	PPIVETLKNAEVRLECELSGTPPFE	2.0	7.0	unscreened	-	4110_2:179590712-179590712 A>C_PPIVETLKNAEVRLECELSGTPPFE
4:66201789-66201789 C>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	EPHA5	uc011cai.2,p.A884S|NM_182472,p.A883S|NM_004439,p.A905S|ENST00000354839,p.A883S|uc003hcy.3,p.A905S|NM_001281765,p.A906S|NM_001281767,p.A906S|ENST00000511294,p.A906S|uc003hcx.3,p.A837S|NM_001281766,p.A884S|ENST00000273854,p.A905S|ENST00000432638,p.A742S|uc003hcz.3,p.A883S|uc011cah.2,p.A906S|uc003hda.2,p.A906S	protein_coding	uc011cai.2	nonsynonymous SNV	exon15	c.G2650T	p.A884S	EGYRLPSPMDCPAALYQLMLDCWQK	EGYRLPSPMDCPSALYQLMLDCWQK	1.0	2.0	unscreened	-	4110_4:66201789-66201789 C>A_EGYRLPSPMDCPSALYQLMLDCWQK
17:72613372-72613372 C>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	CD300E	NM_181449,p.M91I|ENST00000426295,p.M132I|ENST00000412268,p.M93I|ENST00000328630,p.M91I|uc002jlb.2,p.M91I|ENST00000392619,p.M118I	protein_coding	uc002jlb.2	nonsynonymous SNV	exon2	c.G273T	p.M91I	RDHPEALAFTVTMQNLNEDDAGSYW	RDHPEALAFTVTIQNLNEDDAGSYW	3.0	5.0	unscreened	-	4110_17:72613372-72613372 C>A_RDHPEALAFTVTIQNLNEDDAGSYW
6:82461728-82461742 CCGCCGAAGTCGCCG>-	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	FAM46A	ENST00000369754,p.58_63del|ENST00000369756,p.120_125del|uc003pjf.3,p.58_63del|uc003pjh.1,p.39_44del|ENST00000320172,p.39_44del|NM_017633,p.39_44del|uc003pjg.3,p.39_44del	protein_coding	uc003pjh.1	nonframeshift deletion	exon2	c.117_131del	p.39_44del	FGGGDFGGGDFGGGDFGGGGSFGGH	FGGGDFGGGDFGGGGSFGGHCLDYC	6.0	9.0	unscreened	-	4110_6:82461728-82461742 CCGCCGAAGTCGCCG>-_FGGGDFGGGDFGGGGSFGGHCLDYC
12:78511901-78511901 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	ID=COSM325911;OCCURENCE=2(lung)	-	NAV3	ENST00000266692,p.G955V|ENST00000397909,p.G955V|uc001syp.3,p.G955V|ENST00000536525,p.G955V|NM_014903,p.G955V|uc010sub.2,p.G455V|NM_001024383,p.G955V|uc001syo.3,p.G955V|ENST00000228327,p.G955V	retained_intron, protein_coding, processed_transcript	uc010sub.2	nonsynonymous SNV	exon6	c.G1364T	p.G455V	ELKKPEEDFDSHGDAGGKWKTVSSG	ELKKPEEDFDSHVDAGGKWKTVSSG	7.0	1.0	unscreened	-	4110_12:78511901-78511901 G>T_ELKKPEEDFDSHVDAGGKWKTVSSG
7:2987357-2987357 C>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	1	CARD11	uc003smv.3,p.E24D|NM_032415,p.E24D|ENST00000356408,p.E24D|ENST00000396946,p.E24D	retained_intron, protein_coding	uc003smv.3	nonsynonymous SNV	exon3	c.G72T	p.E24D	METLKDEEDALWENVECNRHMLSRY	METLKDEEDALWDNVECNRHMLSRY	4.0	8.0	-	-	4110_7:2987357-2987357 C>A_METLKDEEDALWDNVECNRHMLSRY
18:45566356-45566356 C>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	ZBTB7C	uc010doo.1,p.G375W|uc010dny.1,p.G375W|uc010dod.1,p.G397W|uc010dof.1,p.G375W|NM_001039360,p.G375W|uc010doi.1,p.G375W|uc010doh.1,p.G384W|uc010dos.1,p.G375W|uc010dot.1,p.G375W|ENST00000535628,p.G375W|ENST00000332053,p.G375W|uc010dnz.1,p.G397W|uc010doe.1,p.G375W|ENST00000588982,p.G375W|ENST00000586438,p.G375W|uc010dou.1,p.G384W|uc010dog.1,p.G375W|ENST00000590800,p.G375W|uc010dol.1,p.G384W|uc010dnw.3,p.G375W|uc010dop.1,p.G375W|uc010doq.1,p.G384W|uc010dnv.3,p.G397W|uc010dob.1,p.G375W|uc010dnx.1,p.G375W|uc010dok.1,p.G424W|uc010dor.1,p.G397W|uc010dnu.3,p.G384W|uc002ldb.3,p.G375W|uc010doa.1,p.G397W|uc010doc.1,p.G384W|uc010doj.1,p.G384W|uc010don.1,p.G383W|uc010dom.1,p.G384W	protein_coding	uc010dou.1	nonsynonymous SNV	exon6	c.G1150T	p.G384W	SQQCPICHKVIMGAGKLPRHMRTHT	SQQCPICHKVIMWAGKLPRHMRTHT	2.0	3.0	unscreened	-	4110_18:45566356-45566356 C>A_SQQCPICHKVIMWAGKLPRHMRTHT
4:134084204-134084204 C>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	PCDH10	NM_032961,p.S957Y|uc003iha.3,p.S957Y|ENST00000264360,p.S957Y	retained_intron, protein_coding	uc003iha.3	nonsynonymous SNV	exon4	c.C2870A	p.S957Y	KALGHSDRCWMPSFVPSDGRQAADY	KALGHSDRCWMPYFVPSDGRQAADY	1.0	9.0	-	-	4110_4:134084204-134084204 C>A_KALGHSDRCWMPYFVPSDGRQAADY
20:30659469-30659469 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	HCK	ENST00000375862,p.G23R|NM_001172130,p.G23R|ENST00000375852,p.G23R|NM_002110,p.G23R|uc002wxh.3,p.G23R	retained_intron, protein_coding, nonsense_mediated_decay	uc002wxh.3	nonsynonymous SNV	exon2	c.G67A	p.G23R	GCPRDEERAPRMGCMKSKFLQVGGN	GCPRDEERAPRMRCMKSKFLQVGGN	4.0	5.0	unscreened	-	4110_20:30659469-30659469 G>A_GCPRDEERAPRMRCMKSKFLQVGGN
22:43821049-43821049 C>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	MPPED1	ENST00000443721,p.P20S|uc011apz.2,p.P53S|ENST00000334209,p.P20S|NM_001044370,p.P20S|uc011apv.2,p.P20S|ENST00000447567,p.P20S|uc011apy.2,p.P20S|ENST00000542779,p.P20S|ENST00000538182,p.P53S|ENST00000417669,p.P20S	protein_coding, processed_transcript	uc011apz.2	nonsynonymous SNV	exon2	c.C157T	p.P53S	ASVLKAEALALLPCGLGMAFSQSHV	ASVLKAEALALLSCGLGMAFSQSHV	1.0	3.0	unscreened	-	4110_22:43821049-43821049 C>T_ASVLKAEALALLSCGLGMAFSQSHV
9:14722490-14722490 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	CER1	ENST00000380911,p.P61T|NM_005454,p.P61T|uc003zlj.3,p.P61T	protein_coding	uc003zlj.3	nonsynonymous SNV	exon1	c.C181A	p.P61T	EAEEKPDLFVAVPHLVATSPAGEGQ	EAEEKPDLFVAVTHLVATSPAGEGQ	1.0	3.0	unscreened	-	4110_9:14722490-14722490 G>T_EAEEKPDLFVAVTHLVATSPAGEGQ
4:7435189-7435189 C>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	PSAPL1	uc011bwj.2,p.R473K|NM_001085382,p.R473K|ENST00000319098,p.R473K	protein_coding	uc011bwj.2	nonsynonymous SNV	exon1	c.G1418A	p.R473K	AVCKKVGACHGPRTPLLGTDQCALG	AVCKKVGACHGPKTPLLGTDQCALG	4.0	4.0	unscreened	-	4110_4:7435189-7435189 C>T_AVCKKVGACHGPKTPLLGTDQCALG
18:43420206-43420206 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	SIGLEC15	NM_213602,p.R302Q|ENST00000546268,p.R148Q|uc002lbl.1,p.R302Q|ENST00000389474,p.R302Q	retained_intron, protein_coding, processed_transcript	uc002lbl.1	nonsynonymous SNV	exon5	c.G905A	p.R302Q	RPEHLDTPDTPPRSQAQESNYENLS	RPEHLDTPDTPPQSQAQESNYENLS	3.0	10.0	-	-	4110_18:43420206-43420206 G>A_RPEHLDTPDTPPQSQAQESNYENLS
19:34960026-34960026 G>A	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	UBA2	ENST00000246548,p.R608K|uc002nvl.3,p.R512K|ENST00000592791,p.R134K|ENST00000439527,p.R512K|NM_005499,p.R608K|uc002nvk.3,p.R608K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nvl.3	nonsynonymous SNV	exon17	c.G1535A	p.R512K	DSSNNADVSEEERSRKRKLDEKENL	DSSNNADVSEEEKSRKRKLDEKENL	10.0	6.0	-	-	4110_19:34960026-34960026 G>A_DSSNNADVSEEEKSRKRKLDEKENL
16:7760718-7760718 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	RBFOX1	ENST00000436368,p.G384R|NM_145892,p.G384R|uc002cyx.2,p.G384R	retained_intron, protein_coding, processed_transcript	uc002cyx.2	nonsynonymous SNV	exon13	c.G1150A	p.G384R	TYGVGAMASIYRGGYNRFAPY	TYGVGAMASIYRRGYNRFAPY	1.0	8.0	-	-	4110_16:7760718-7760718 G>A_TYGVGAMASIYRRGYNRFAPY
16:7760718-7760718 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	RBFOX1	NM_145891,p.G410R|uc010uyc.1,p.G383R|uc002cys.2,p.G389R|ENST00000550418,p.G389R|ENST00000553186,p.G362R|ENST00000547338,p.G389R|NM_018723,p.G389R|uc002cyt.2,p.G362R|NM_001142334,p.G389R|ENST00000311745,p.G410R|uc002cyy.2,p.G410R|ENST00000340209,p.G394R|NM_001142333,p.G362R|uc010uyb.1,p.G389R	retained_intron, protein_coding, processed_transcript	uc010uyc.1	nonsynonymous SNV	exon12	c.G1147A	p.G383R	LVLSSLQASIYRGGYNRFAPY	LVLSSLQASIYRRGYNRFAPY	1.0	8.0	-	-	4110_16:7760718-7760718 G>A_LVLSSLQASIYRRGYNRFAPY
17:29631789-29631789 C>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	EVI2B	ENST00000577894,p.S280N|uc021tuk.1,p.S280N|ENST00000544462,p.S295N|NM_006495,p.S280N|uc010csq.2,p.S295N|ENST00000330927,p.S280N|uc002hgk.2,p.S280N	protein_coding	uc021tuk.1	nonsynonymous SNV	exon1	c.G839A	p.S280N	SIISLTPWKPSKSTLLADDLEIKLF	SIISLTPWKPSKNTLLADDLEIKLF	7.0	3.0	unscreened	-	4110_17:29631789-29631789 C>T_SIISLTPWKPSKNTLLADDLEIKLF
20:36572413-36572413 C>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	VSTM2L	ENST00000373459,p.P51L	protein_coding	ENST00000373459	nonsynonymous SNV	exon2	c.C152T	p.P51L	GHGGQGGGQQHLPQAAPVPGEAHGR	GHGGQGGGQQHLLQAAPVPGEAHGR	1.0	3.0	unscreened	-	4110_20:36572413-36572413 C>T_GHGGQGGGQQHLLQAAPVPGEAHGR
5:176943295-176943295 C>G	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	DDX41	ENST00000330503,p.A116P|ENST00000507955,p.A98P|NM_016222,p.A98P|uc003mho.3,p.A98P|ENST00000509576,p.A98P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003mho.3	nonsynonymous SNV	exon3	c.G292C	p.A98P	SLLDQHQHLKEKAEARKESAKEKQL	SLLDQHQHLKEKPEARKESAKEKQL	9.0	5.0	-	-	4110_5:176943295-176943295 C>G_SLLDQHQHLKEKPEARKESAKEKQL
X:102192380-102192380 A>C	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	RAB40AL	uc004ejs.3,p.H45P|NM_001031834,p.H45P|ENST00000218249,p.H45P	protein_coding	uc004ejs.3	nonsynonymous SNV	exon1	c.A134C	p.H45P	SLQDGTAESPYSHLGGIDYKTTTIL	SLQDGTAESPYSPLGGIDYKTTTIL	2.0	2.0	unscreened	-	4110_X:102192380-102192380 A>C_SLQDGTAESPYSPLGGIDYKTTTIL
1:34164382-34164382 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	CSMD2	uc001bxm.1,p.T1299N|NM_001281956,p.T1299N|ENST00000241312,p.T1259N|uc001bxo.1,p.T172N|ENST00000373381,p.T1299N|ENST00000373380,p.T172N|uc001bxn.1,p.T1259N|NM_052896,p.T1259N	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxo.1	nonsynonymous SNV	exon3	c.C515A	p.T172N	SEELLCLSGERRTWDRPLPTCVAEC	SEELLCLSGERRNWDRPLPTCVAEC	2.0	5.0	-	-	4110_1:34164382-34164382 G>T_SEELLCLSGERRNWDRPLPTCVAEC
3:155311860-155311860 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	ID=COSM3846591,COSM3846592,COSM3846590,COSM3846593;OCCURENCE=1(breast)	-	PLCH1	ENST00000494598,p.H102Y|NM_001130960,p.H102Y|ENST00000460012,p.H84Y|uc021xgf.1,p.H84Y|uc021xgd.1,p.H102Y|ENST00000334686,p.H84Y|ENST00000414191,p.H84Y|uc021xge.1,p.H102Y|ENST00000447496,p.H102Y|NM_014996,p.H84Y|NM_001130961,p.H102Y|ENST00000340059,p.H102Y	retained_intron, protein_coding	uc021xgf.1	nonsynonymous SNV	exon3	c.C250T	p.H84Y	DPSCCFTIYHGNHMESLDLITSNPE	DPSCCFTIYHGNYMESLDLITSNPE	4.0	4.0	unscreened	-	4110_3:155311860-155311860 G>A_DPSCCFTIYHGNYMESLDLITSNPE
7:87908753-87908753 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	STEAP4	uc003ujs.3,p.T447K|NM_024636,p.T447K|NM_001205316,p.T271K|uc010lek.3,p.T271K|NM_001205315,p.T447K|ENST00000380079,p.T447K|uc022agz.1,p.T447K|ENST00000301959,p.T271K	protein_coding	uc022agz.1	nonsynonymous SNV	exon6	c.C1340A	p.T447K	FVLIMPCVDNTLTRIRQGWERNSKH	FVLIMPCVDNTLKRIRQGWERNSKH	4.0	6.0	-	-	4110_7:87908753-87908753 G>T_FVLIMPCVDNTLKRIRQGWERNSKH
11:6653496-6653496 C>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	DCHS1	NM_003737,p.G1083R|uc001mem.1,p.G1083R|ENST00000299441,p.G1083R	protein_coding	uc001mem.1	nonsynonymous SNV	exon6	c.G3247A	p.G1083R	KVMAVSGSKAELGQQTGTATVRVSI	KVMAVSGSKAELRQQTGTATVRVSI	2.0	8.0	-	-	4110_11:6653496-6653496 C>T_KVMAVSGSKAELRQQTGTATVRVSI
12:70988466-70988466 C>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	1	PTPRB	uc010stp.2,p.A215S|uc009zrr.2,p.A312S|uc001swa.4,p.A433S|NM_001206972,p.A215S|uc001swd.4,p.A432S|NM_001109754,p.A433S|ENST00000551525,p.A432S|NM_001206971,p.A215S|ENST00000550358,p.A433S|ENST00000451516,p.A215S|ENST00000538708,p.A215S|uc001swe.3,p.A433S|uc010sto.2,p.A215S|uc001swc.4,p.A433S|ENST00000550857,p.A215S|uc001swb.4,p.A215S|ENST00000548122,p.A312S|ENST00000334414,p.A433S|ENST00000261266,p.A215S|NM_002837,p.A215S	retained_intron, protein_coding, processed_transcript	uc010stp.2	nonsynonymous SNV	exon4	c.G643T	p.A215S	PSPVKDIGISTKANSLLISWSHGSG	PSPVKDIGISTKSNSLLISWSHGSG	4.0	2.0	unscreened	-	4110_12:70988466-70988466 C>A_PSPVKDIGISTKSNSLLISWSHGSG
9:19049854-19049854 A>G	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	RRAGA	NM_006570,p.Q66R|uc003znj.3,p.Q66R|ENST00000380527,p.Q66R	protein_coding	uc003znj.3	nonsynonymous SNV	exon1	c.A197G	p.Q66R	GNLVLNLWDCGGQDTFMENYFTSQR	GNLVLNLWDCGGRDTFMENYFTSQR	7.0	4.0	unscreened	-	4110_9:19049854-19049854 A>G_GNLVLNLWDCGGRDTFMENYFTSQR
12:52774154-52774154 C>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	KRT84	ENST00000257951,p.E473K|NM_033045,p.E473K|uc001sah.1,p.E473K	protein_coding	uc001sah.1	nonsynonymous SNV	exon7	c.G1417A	p.E473K	EIATYRRLLEGEESRLCEGVGPVNI	EIATYRRLLEGEKSRLCEGVGPVNI	3.0	6.0	-	-	4110_12:52774154-52774154 C>T_EIATYRRLLEGEKSRLCEGVGPVNI
X:89177590-89177590 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	TGIF2LX	ENST00000561129,p.R169I|ENST00000283891,p.R169I|uc004efe.3,p.R169I|uc022bzr.1,p.R169I|NM_138960,p.R169I	protein_coding	uc022bzr.1	nonsynonymous SNV	exon1	c.G506T	p.R169I	LPLWPLPKGQMSREKQPDPESAPSQ	LPLWPLPKGQMSIEKQPDPESAPSQ	1.0	9.0	unscreened	-	4110_X:89177590-89177590 G>T_LPLWPLPKGQMSIEKQPDPESAPSQ
12:6952584-6952584 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	GNB3	uc001qrd.3,p.G109W|ENST00000541257,p.G109W|ENST00000537035,p.G109W|ENST00000435982,p.G109W|NM_002075,p.G109W|ENST00000229264,p.G109W|uc001qrc.3,p.G65W|uc009zfe.3,p.G109W|ENST00000541978,p.G109W|NM_001297571,p.G109W	retained_intron, protein_coding, nonsense_mediated_decay	uc009zfe.3	nonsynonymous SNV	exon6	c.G325T	p.G109W	SSWVMTCAYAPSGNFVACGGLDNMC	SSWVMTCAYAPSWNFVACGGLDNMC	1.0	4.0	unscreened	-	4110_12:6952584-6952584 G>T_SSWVMTCAYAPSWNFVACGGLDNMC
4:62897173-62897173 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	LPHN3	ENST00000545650,p.G1078C|NM_015236,p.G1078C|uc003hcq.4,p.G1078C|uc010ihh.3,p.G1078C|ENST00000506720,p.G1146C|ENST00000508946,p.G1078C|ENST00000504896,p.G1078C|ENST00000512091,p.G1078C|ENST00000508693,p.G1146C|ENST00000509896,p.G1146C|ENST00000514591,p.G1078C	retained_intron, protein_coding, processed_transcript	uc010ihh.3	nonsynonymous SNV	exon20	c.G3232T	p.G1078C	EDNRPFIKSWVIGAIALLCLLGLTW	EDNRPFIKSWVICAIALLCLLGLTW	1.0	7.0	-	-	4110_4:62897173-62897173 G>T_EDNRPFIKSWVICAIALLCLLGLTW
8:20112437-20112437 A>T	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	LZTS1	uc003wzr.3,p.S86T|ENST00000265801,p.S86T|ENST00000381569,p.S86T|NM_021020,p.S86T|ENST00000522290,p.S86T|uc010ltg.2,p.S86T	protein_coding	uc010ltg.2	nonsynonymous SNV	exon1	c.T256A	p.S86T	ARGSHHPDYTALSSGDLGGQAGVDF	ARGSHHPDYTALTSGDLGGQAGVDF	3.0	7.0	unscreened	-	4110_8:20112437-20112437 A>T_ARGSHHPDYTALTSGDLGGQAGVDF
18:51013223-51013223 C>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	2	DCC	NM_005215,p.L1265F|ENST00000581580,p.L900F|ENST00000442544,p.L1265F|uc002lfe.2,p.L1265F|uc010dpf.2,p.L900F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dpf.2	nonsynonymous SNV	exon23	c.C2698T	p.L900F	VPTLESAQYPGILPSPTCGYPHPQF	VPTLESAQYPGIFPSPTCGYPHPQF	1.0	8.0	-	-	4110_18:51013223-51013223 C>T_VPTLESAQYPGIFPSPTCGYPHPQF
4:76530754-76530754 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	CDKL2	ENST00000307465,p.P203T|ENST00000429927,p.P203T|uc003hiq.3,p.P203T|NM_003948,p.P203T|uc011cbp.2,p.P203T	retained_intron, protein_coding, nonsense_mediated_decay	uc011cbp.2	nonsynonymous SNV	exon5	c.C607A	p.P203T	LVTEMFMGEPLFPGDSDIDQLYHIM	LVTEMFMGEPLFTGDSDIDQLYHIM	4.0	4.0	unscreened	-	4110_4:76530754-76530754 G>T_LVTEMFMGEPLFTGDSDIDQLYHIM
4:62897173-62897173 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	LPHN3	ENST00000506746,p.G1137C|ENST00000506700,p.G1069C|ENST00000507164,p.G1137C|ENST00000514996,p.G1069C|ENST00000514157,p.G1069C|ENST00000511324,p.G1137C|uc003hct.3,p.G462C|ENST00000507625,p.G1137C	retained_intron, protein_coding, processed_transcript	uc003hct.3	nonsynonymous SNV	exon10	c.G1384T	p.G462C	SGCLDNIKSWVIGAIALLCLLGLTW	SGCLDNIKSWVICAIALLCLLGLTW	1.0	7.0	-	-	4110_4:62897173-62897173 G>T_SGCLDNIKSWVICAIALLCLLGLTW
17:27308701-27308701 C>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	SEZ6	ENST00000442608,p.G138R|ENST00000317338,p.G138R|NM_178860,p.G138R|uc010crz.1,p.G138R|ENST00000540632,p.G64R|ENST00000335960,p.G138R|ENST00000360295,p.G138R|uc002hdq.1,p.G13R|uc002hdp.2,p.G138R|NM_001290202,p.G13R|NM_001098635,p.G138R|uc010cry.1,p.G138R|ENST00000585644,p.G13R	retained_intron, protein_coding, nonsense_mediated_decay	uc010crz.1	nonsynonymous SNV	exon2	c.G412A	p.G138R	MAAVPTQPQSKEGPWSPESESPMLR	MAAVPTQPQSKERPWSPESESPMLR	4.0	1.0	unscreened	-	4110_17:27308701-27308701 C>T_MAAVPTQPQSKERPWSPESESPMLR
1:145297661-145297661 C>A	1.0	4110	CHOLANGIOCARCINOMA	-	rs4068083	-	-	NBPF10	uc031poc.1,p.A179D|NM_001039703,p.A179D|uc021ouk.1,p.A179D|ENST00000490598,p.A179D|ENST00000342960,p.A179D|uc021oul.2,p.A179D	protein_coding, processed_transcript	uc031poc.1	nonsynonymous SNV	exon4	c.C536A	p.A179D	DEDEDEDVQVEEAEKVLESSAPREV	DEDEDEDVQVEEDEKVLESSAPREV	9.0	3.0	unscreened	-	4110_1:145297661-145297661 C>A_DEDEDEDVQVEEDEKVLESSAPREV
1:215824005-215824005 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	USH2A	ENST00000307340,p.P4758S|uc001hku.1,p.P4758S|ENST00000366943,p.P4758S|NM_206933,p.P4758S	retained_intron, protein_coding	uc001hku.1	nonsynonymous SNV	exon65	c.C14272T	p.P4758S	ISSTQAVVNISAPGKPNGIVSLYRL	ISSTQAVVNISASGKPNGIVSLYRL	1.0	3.0	unscreened	-	4110_1:215824005-215824005 G>A_ISSTQAVVNISASGKPNGIVSLYRL
10:101128428-101128428 G>C	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	CNNM1	ENST00000370534,p.G379R|uc010qpi.2,p.G744R	protein_coding, processed_transcript	uc010qpi.2	nonsynonymous SNV	exon7	c.G2230C	p.G744R	RTFAVSRGDSLAGSPVNRSPSRCSG	RTFAVSRGDSLARSPVNRSPSRCSG	4.0	8.0	-	-	4110_10:101128428-101128428 G>C_RTFAVSRGDSLARSPVNRSPSRCSG
19:17322920-17322920 C>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	MYO9B	uc010eak.3,p.A2092V|NM_004145,p.A2092V|ENST00000594824,p.A2092V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010eak.3	nonsynonymous SNV	exon40	c.C6275T	p.A2092V	LPRWAPGAREAAAPVRRREPPARRP	LPRWAPGAREAAVPVRRREPPARRP	7.0	7.0	-	-	4110_19:17322920-17322920 C>T_LPRWAPGAREAAVPVRRREPPARRP
6:154360311-154360312 AG>-	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	OPRM1	NM_001145279,p.R6fs|uc011efe.2,p.R6fs|ENST00000434900,p.R6fs|NM_001285524,p.R6fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc011efe.2	frameshift deletion	exon2	c.16_17del	p.R6fs	MCLHRRVPSEETYSLDRF	MCLHRSAQ	1.0	10.0	unscreened	-	4110_6:154360311-154360312 AG>-_MCLHRSAQ
19:44117930-44117930 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	SRRM5	NM_001145641,p.E553K|uc010xwr.2,p.E553K|ENST00000417606,p.E553K|ENST00000607544,p.E553K|uc002oxb.3,p.E568K|ENST00000526798,p.E568K	protein_coding	uc010xwr.2	nonsynonymous SNV	exon1	c.G1657A	p.E553K	KERDRSQSRSPSEEREHRQSRSPSK	KERDRSQSRSPSKEREHRQSRSPSK	2.0	4.0	unscreened	-	4110_19:44117930-44117930 G>A_KERDRSQSRSPSKEREHRQSRSPSK
5:140168277-140168277 C>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	PCDHA1	ENST00000378133,p.P801L|NM_031410,p.P801L|uc003lgz.3,p.P801L	protein_coding	uc003lgz.3	nonsynonymous SNV	exon1	c.C2402T	p.P801L	PEANLDLSGNVSPTFEFWL	PEANLDLSGNVSLTFEFWL	2.0	5.0	unscreened	-	4110_5:140168277-140168277 C>T_PEANLDLSGNVSLTFEFWL
14:23842509-23842509 C>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	IL25	NM_172314,p.P45L|uc001wjr.3,p.P61L|uc001wjq.3,p.P45L|ENST00000329715,p.P61L|ENST00000397242,p.P45L|NM_022789,p.P61L	protein_coding	uc001wjr.3	nonsynonymous SNV	exon1	c.C182T	p.P61L	EELLRWSTVPVPPLEPARPNRHPES	EELLRWSTVPVPLLEPARPNRHPES	1.0	6.0	-	-	4110_14:23842509-23842509 C>T_EELLRWSTVPVPLLEPARPNRHPES
18:44555312-44555312 G>C	0.0	4110	CHOLANGIOCARCINOMA	-	rs2510019	-	-	TCEB3C,TCEB3CL	NM_001100817,p.S301C	protein_coding	NM_001100817	nonsynonymous SNV	exon1	c.C902G	p.S301C	EAMTSQANPEALSAPTLQEEAAFPG	EAMTSQANPEALCAPTLQEEAAFPG	1.0	6.0	unscreened	-	4110_18:44555312-44555312 G>C_EAMTSQANPEALCAPTLQEEAAFPG
17:14205096-14205096 G>C	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	HS3ST3B1	ENST00000466596,p.R87S|NM_006041,p.R87S|uc002goh.1,p.R87S|ENST00000360954,p.R87S	protein_coding, nonsense_mediated_decay	uc002goh.1	nonsynonymous SNV	exon1	c.G261C	p.R87S	PALATAPDGTPPRLPFRAPPATPLA	PALATAPDGTPPSLPFRAPPATPLA	4.0	5.0	-	-	4110_17:14205096-14205096 G>C_PALATAPDGTPPSLPFRAPPATPLA
1:150444520-150444520 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	RPRD2	uc009wlr.3,p.K1032N|NM_015203,p.K1032N|NM_001297674,p.K1006N|ENST00000401000,p.K1006N|uc001eup.4,p.K1006N|ENST00000369068,p.K1032N	protein_coding, processed_transcript	uc009wlr.3	nonsynonymous SNV	exon11	c.G3096T	p.K1032N	PSDDKHFGQAPSKGTPSDGVSLSNL	PSDDKHFGQAPSNGTPSDGVSLSNL	6.0	2.0	unscreened	-	4110_1:150444520-150444520 G>T_PSDDKHFGQAPSNGTPSDGVSLSNL
X:134991163-134991163 T>C	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	SAGE1	uc004ezh.3,p.Y528H|ENST00000535938,p.Y528H|ENST00000324447,p.Y528H|uc010nry.1,p.Y497H|NM_018666,p.Y528H|ENST00000370709,p.Y528H	protein_coding	uc010nry.1	nonsynonymous SNV	exon12	c.T1489C	p.Y497H	AGGIPSMSTKDLYATVTQNVHEERM	AGGIPSMSTKDLHATVTQNVHEERM	1.0	4.0	unscreened	-	4110_X:134991163-134991163 T>C_AGGIPSMSTKDLHATVTQNVHEERM
8:142367968-142367968 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	ID=COSM604511;OCCURENCE=1(lung)	-	GPR20	NM_005293,p.A19V|uc003ywf.3,p.A19V|uc022bby.1,p.A19V|ENST00000377741,p.A19V	protein_coding	uc022bby.1	nonsynonymous SNV	exon1	c.C56T	p.A19V	AGPSAGAVPNATAVTTVRTNASGLE	AGPSAGAVPNATVVTTVRTNASGLE	1.0	4.0	unscreened	-	4110_8:142367968-142367968 G>A_AGPSAGAVPNATVVTTVRTNASGLE
5:5462803-5462803 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	ICE1	NM_015325,p.G1119E|ENST00000296564,p.G1119E|uc003jdm.5,p.G1119E	retained_intron, protein_coding, processed_transcript	uc003jdm.5	nonsynonymous SNV	exon13	c.G3356A	p.G1119E	TEVESEAFSCSEGSEQQDAPDDSQK	TEVESEAFSCSEESEQQDAPDDSQK	8.0	2.0	unscreened	-	4110_5:5462803-5462803 G>A_TEVESEAFSCSEESEQQDAPDDSQK
7:19184969-19184969 T>C	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	FERD3L	ENST00000275461,p.E6G|NM_152898,p.E6G|uc003suo.1,p.E6G	protein_coding	uc003suo.1	nonsynonymous SNV	exon1	c.A17G	p.E6G	MAAYPESCVDTTVLDFVA	MAAYPGSCVDTTVLDFVA	1.0	4.0	unscreened	-	4110_7:19184969-19184969 T>C_MAAYPGSCVDTTVLDFVA
1:38082331-38082331 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	RSPO1	uc009vvf.2,p.S10R|NM_001242909,p.S10R|ENST00000373059,p.S10R	protein_coding	uc009vvf.2	nonsynonymous SNV	exon4	c.C30A	p.S10R	MIFRVSAEGSQACAKGCELCSE	MIFRVSAEGRQACAKGCELCSE	4.0	3.0	unscreened	-	4110_1:38082331-38082331 G>T_MIFRVSAEGRQACAKGCELCSE
7:147844715-147844715 T>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	2	CNTNAP2	ENST00000361727,p.L896Q|uc003weu.2,p.L896Q|NM_014141,p.L896Q	protein_coding, processed_transcript	uc003weu.2	nonsynonymous SNV	exon17	c.T2687A	p.L896Q	RVTAERNVKQASLQVDRLPQQIRKA	RVTAERNVKQASQQVDRLPQQIRKA	4.0	8.0	-	-	4110_7:147844715-147844715 T>A_RVTAERNVKQASQQVDRLPQQIRKA
20:30659469-30659469 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	HCK	uc010gdy.3,p.G3R|NM_001172132,p.G3R|ENST00000534862,p.G3R	retained_intron, protein_coding, nonsense_mediated_decay	uc010gdy.3	nonsynonymous SNV	exon3	c.G7A	p.G3R	MMGCMKSKFLQVGGN	MMRCMKSKFLQVGGN	4.0	5.0	unscreened	-	4110_20:30659469-30659469 G>A_MMRCMKSKFLQVGGN
1:153270599-153270599 T>C	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	PGLYRP3	NM_052891,p.N287D|uc001fbn.1,p.N287D|ENST00000290722,p.N287D	protein_coding	uc001fbn.1	nonsynonymous SNV	exon7	c.A859G	p.N287D	IAFIGYFVEKPPNAAALEAAQDLIQ	IAFIGYFVEKPPDAAALEAAQDLIQ	1.0	4.0	unscreened	-	4110_1:153270599-153270599 T>C_IAFIGYFVEKPPDAAALEAAQDLIQ
X:151123432-151123432 G>A	0.0	4110	CHOLANGIOCARCINOMA	0.0	-	-	-	GABRE	uc004ffi.3,p.P421L|ENST00000370328,p.P421L|NM_004961,p.P421L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004ffi.3	nonsynonymous SNV	exon9	c.C1262T	p.P421L	IVTTEGSDGEERPSCSAQQPPSPGS	IVTTEGSDGEERLSCSAQQPPSPGS	2.0	2.0	unscreened	-	4110_X:151123432-151123432 G>A_IVTTEGSDGEERLSCSAQQPPSPGS
1:38082331-38082331 G>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	RSPO1	uc009vvg.2,p.S37R|uc001cbm.2,p.S37R|NM_001242908,p.S37R|ENST00000356545,p.S37R|NM_001242910,p.S37R|NM_001038633,p.S37R|ENST00000401070,p.S37R|uc001cbl.2,p.S37R|ENST00000401068,p.S37R|ENST00000401071,p.S37R|ENST00000401069,p.S37R	protein_coding	uc009vvg.2	nonsynonymous SNV	exon4	c.C111A	p.S37R	KGKRQRRISAEGSQACAKGCELCSE	KGKRQRRISAEGRQACAKGCELCSE	4.0	3.0	unscreened	-	4110_1:38082331-38082331 G>T_KGKRQRRISAEGRQACAKGCELCSE
5:79950745-79950745 C>G	1.0	4110	CHOLANGIOCARCINOMA	-	-	ID=COSM1186784;OCCURENCE=1(lung)	-	MSH3	uc011ctl.2,p.G13A	protein_coding, processed_transcript	uc011ctl.2	nonsynonymous SNV	exon1	c.G38C	p.G13A	MCGGSWGGKAGAGGAGGAAAAAAAA	MCGGSWGGKAGAAGAGGAAAAAAAA	6.0	8.0	unscreened	-	4110_5:79950745-79950745 C>G_MCGGSWGGKAGAAGAGGAAAAAAAA
8:20112436-20112436 G>C	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	LZTS1	uc010ltg.2,p.S86C|NM_021020,p.S86C|ENST00000265801,p.S86C|uc003wzr.3,p.S86C|ENST00000522290,p.S86C|ENST00000381569,p.S86C	protein_coding	uc010ltg.2	nonsynonymous SNV	exon1	c.C257G	p.S86C	ARGSHHPDYTALSSGDLGGQAGVDF	ARGSHHPDYTALCSGDLGGQAGVDF	3.0	7.0	unscreened	-	4110_8:20112436-20112436 G>C_ARGSHHPDYTALCSGDLGGQAGVDF
18:44555312-44555312 G>C	0.0	4110	CHOLANGIOCARCINOMA	-	rs2510019	-	-	TCEB3C,TCEB3CL	NM_145653,p.S301C|uc010xdb.2,p.S301C|ENST00000330682,p.S301C	protein_coding	uc010xdb.2	nonsynonymous SNV	exon1	c.C902G	p.S301C	EAMTSQANPEALSAPALQEEAAFPG	EAMTSQANPEALCAPALQEEAAFPG	1.0	6.0	unscreened	-	4110_18:44555312-44555312 G>C_EAMTSQANPEALCAPALQEEAAFPG
19:46032540-46032540 A>G	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	OPA3	uc002pcj.4,p.L106S|ENST00000323060,p.L106S|NM_001017989,p.L106S	protein_coding	uc002pcj.4	nonsynonymous SNV	exon2	c.T317C	p.L106S	CSCLMLEYWRHQLQQRRKEKERRVA	CSCLMLEYWRHQSQQRRKEKERRVA	6.0	7.0	-	-	4110_19:46032540-46032540 A>G_CSCLMLEYWRHQSQQRRKEKERRVA
1:86951039-86951039 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	CLCA1	uc001dls.1,p.C189Y|NM_001285,p.C250Y|uc001dlt.3,p.C250Y|ENST00000234701,p.C250Y|ENST00000394711,p.C250Y	protein_coding, processed_transcript	uc001dlt.3	nonsynonymous SNV	exon6	c.G749A	p.C250Y	MFAQHVDSIVEFCTEQNHNKEAPNK	MFAQHVDSIVEFYTEQNHNKEAPNK	1.0	7.0	-	-	4110_1:86951039-86951039 G>A_MFAQHVDSIVEFYTEQNHNKEAPNK
7:100350487-100350487 C>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	ZAN	ENST00000546292,p.P920H|uc003uwk.3,p.P920H|uc003uwj.3,p.P920H|ENST00000538115,p.P920H|ENST00000542585,p.P920H	protein_coding, polymorphic_pseudogene	uc003uwk.3	nonsynonymous SNV	exon14	c.C2759A	p.P920H	ISPEKPTISTEKPTIPTEKPTIPTE	ISPEKPTISTEKHTIPTEKPTIPTE	1.0	7.0	-	-	4110_7:100350487-100350487 C>A_ISPEKPTISTEKHTIPTEKPTIPTE
6:30916626-30916626 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	DPCR1	uc003nsg.2,p.G129R|NM_080870,p.G129R|ENST00000462446,p.G129R	protein_coding	uc003nsg.2	nonsynonymous SNV	exon2	c.G385A	p.G129R	APPTSEENSSNQGKDPMIRNQRSVD	APPTSEENSSNQRKDPMIRNQRSVD	3.0	8.0	-	-	4110_6:30916626-30916626 G>A_APPTSEENSSNQRKDPMIRNQRSVD
7:99771488-99771488 C>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	GPC2	uc003utv.3,p.G288R|ENST00000292377,p.G288R|NM_152742,p.G288R	retained_intron, protein_coding, processed_transcript	uc003utv.3	nonsynonymous SNV	exon5	c.G862A	p.G288R	CLNVVRGCLSSRGLEPDWGNYLDGL	CLNVVRGCLSSRRLEPDWGNYLDGL	3.0	5.0	-	-	4110_7:99771488-99771488 C>T_CLNVVRGCLSSRRLEPDWGNYLDGL
20:60898691-60898691 A>C	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	LAMA5	NM_005560,p.L1962R|uc002ycq.3,p.L1962R|ENST00000252999,p.L1962R|uc021wfw.1,p.L1962R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wfw.1	nonsynonymous SNV	exon45	c.T5885G	p.L1962R	RCAPGFFGNPLVLGSSCQPCDCSGN	RCAPGFFGNPLVRGSSCQPCDCSGN	8.0	4.0	unscreened	-	4110_20:60898691-60898691 A>C_RCAPGFFGNPLVRGSSCQPCDCSGN
5:3599454-3599454 C>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	IRX1	NM_024337,p.P131H|uc003jde.3,p.P131H|ENST00000302006,p.P131H	protein_coding	uc003jde.3	nonsynonymous SNV	exon2	c.C392A	p.P131H	PYGQFQYGDPGRPKNATRESTSTLK	PYGQFQYGDPGRHKNATRESTSTLK	1.0	8.0	-	-	4110_5:3599454-3599454 C>A_PYGQFQYGDPGRHKNATRESTSTLK
20:30659469-30659469 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	HCK	ENST00000486475,p.G44E	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000486475	nonsynonymous SNV	exon3	c.G131A	p.G44E	VANLSQFPPEEDGVHEVQVPPGRRQ	VANLSQFPPEEDEVHEVQVPPGRRQ	4.0	5.0	unscreened	-	4110_20:30659469-30659469 G>A_VANLSQFPPEEDEVHEVQVPPGRRQ
1:169560673-169560673 T>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	SELP	ENST00000426706,p.N769I|uc001ggh.3,p.N605I	protein_coding, processed_transcript	uc001ggh.3	nonsynonymous SNV	exon13	c.A1814T	p.N605I	VPTCQDDGKCPLNPHSHLGTYGVFT	VPTCQDDGKCPLIPHSHLGTYGVFT	1.0	6.0	-	-	4110_1:169560673-169560673 T>A_VPTCQDDGKCPLIPHSHLGTYGVFT
1:169560673-169560673 T>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	SELP	uc001ggi.4,p.N810I|ENST00000367786,p.N748I|ENST00000367793,p.N748I|ENST00000367791,p.N624I|ENST00000367792,p.N626I|ENST00000367788,p.N748I|NM_003005,p.N810I|ENST00000367794,p.N748I|ENST00000263686,p.N810I|ENST00000458599,p.N626I|uc009wvr.3,p.N809I	protein_coding, processed_transcript	uc009wvr.3	nonsynonymous SNV	exon15	c.A2426T	p.N809I	RFRQKDDGKCPLNPHSHLGTYGVFT	RFRQKDDGKCPLIPHSHLGTYGVFT	1.0	6.0	-	-	4110_1:169560673-169560673 T>A_RFRQKDDGKCPLIPHSHLGTYGVFT
4:96761891-96761891 C>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	PDHA2	NM_005390,p.A197V|ENST00000295266,p.A197V|uc003htr.4,p.A197V	protein_coding	uc003htr.4	nonsynonymous SNV	exon1	c.C590T	p.A197V	DEICLTLYGDGAANQGQIAEAFNMA	DEICLTLYGDGAVNQGQIAEAFNMA	1.0	7.0	-	-	4110_4:96761891-96761891 C>T_DEICLTLYGDGAVNQGQIAEAFNMA
5:1443228-1443228 C>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	SLC6A3	ENST00000270349,p.V29L|uc003jck.3,p.V29L|ENST00000453492,p.V29L|NM_001044,p.V29L	retained_intron, protein_coding	uc003jck.3	nonsynonymous SNV	exon2	c.G85T	p.V29L	PAKEPNAVGPKEVELILVKEQNGVQ	PAKEPNAVGPKELELILVKEQNGVQ	4.0	6.0	-	-	4110_5:1443228-1443228 C>A_PAKEPNAVGPKELELILVKEQNGVQ
7:100641888-100641888 G>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	MUC12	ENST00000536621,p.V2682I|NM_001164462,p.V2682I|uc003uxo.3,p.V2682I|ENST00000379442,p.V2825I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.G8044A	p.V2682I	TTLSPASMTSLGVGEESTTSRSQPG	TTLSPASMTSLGIGEESTTSRSQPG	6.0	6.0	-	-	4110_7:100641888-100641888 G>A_TTLSPASMTSLGIGEESTTSRSQPG
8:107670383-107670383 C>T	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	OXR1	ENST00000312046,p.P57S|uc011lhu.2,p.P57S|NM_181354,p.P57S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lhu.2	nonsynonymous SNV	exon1	c.C169T	p.P57S	QGDLGCGSPPHRPPAPSSPEGPDTG	QGDLGCGSPPHRSPAPSSPEGPDTG	8.0	7.0	-	-	4110_8:107670383-107670383 C>T_QGDLGCGSPPHRSPAPSSPEGPDTG
8:107670383-107670383 C>T	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	OXR1	ENST00000435082,p.P57S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000435082	nonsynonymous SNV	exon1	c.C169T	p.P57S	QGDLGCGSPPHRPPAPSSPEGPDYY	QGDLGCGSPPHRSPAPSSPEGPDYY	8.0	7.0	-	-	4110_8:107670383-107670383 C>T_QGDLGCGSPPHRSPAPSSPEGPDYY
14:77948838-77948838 T>C	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	ISM2	ENST00000429906,p.E186G|uc001xtz.3,p.E267G|ENST00000342219,p.E267G|ENST00000393684,p.E179G|ENST00000412904,p.E186G|NM_199296,p.E267G|uc001xty.3,p.E179G	retained_intron, protein_coding, nonsense_mediated_decay	uc001xtz.3	nonsynonymous SNV	exon4	c.A800G	p.E267G	GEEKDRAPGEKGEEKEEDEDYPSED	GEEKDRAPGEKGGEKEEDEDYPSED	2.0	3.0	unscreened	-	4110_14:77948838-77948838 T>C_GEEKDRAPGEKGGEKEEDEDYPSED
16:88772987-88772987 C>A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	CTU2	uc002fln.3,p.P17T|ENST00000312060,p.P17T|ENST00000453996,p.P17T|ENST00000567949,p.P17T|NM_001012762,p.P17T|uc002flm.3,p.P17T|NM_001012759,p.P17T|uc010chz.3,p.P17T|ENST00000564105,p.P17T	retained_intron, protein_coding, nonsense_mediated_decay	uc010chz.3	nonsynonymous SNV	exon1	c.C49A	p.P17T	GEDYGEPAPEEPPPAPRPSREQKCV	GEDYGEPAPEEPTPAPRPSREQKCV	7.0	6.0	unscreened	-	4110_16:88772987-88772987 C>A_GEDYGEPAPEEPTPAPRPSREQKCV
19:34959980-34959980 G>A	1.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	UBA2	NM_005499,p.D593N|uc002nvk.3,p.D593N|uc002nvl.3,p.D497N|ENST00000246548,p.D593N|ENST00000592791,p.D119N|ENST00000439527,p.D497N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nvl.3	nonsynonymous SNV	exon17	c.G1489A	p.D497N	AQEQDDVLIVDSDEEDSSNNADVSE	AQEQDDVLIVDSNEEDSSNNADVSE	10.0	7.0	unscreened	-	4110_19:34959980-34959980 G>A_AQEQDDVLIVDSNEEDSSNNADVSE
4:81884684-81884684 A>G	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	C4orf22	NM_152770,p.D207G|uc010ijp.3,p.D224G|ENST00000358105,p.D207G|NM_001206997,p.D224G|ENST00000508675,p.D224G|uc003hmf.3,p.D207G	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ijp.3	nonsynonymous SNV	exon7	c.A671G	p.D224G	KILNVDPKAQPGDNSTRITILTELY	KILNVDPKAQPGGNSTRITILTELY	1.0	5.0	-	-	4110_4:81884684-81884684 A>G_KILNVDPKAQPGGNSTRITILTELY
1:152084175-152084175 ->TGCTGCTCGCGCCTCTCC	0.0	4110	CHOLANGIOCARCINOMA	-	-	ID=COSM1334078;OCCURENCE=6(large_intestine)	-	TCHH	uc009wne.1,p.Q506delinsQERREQQ|uc001ezp.3,p.Q506delinsQERREQQ|ENST00000368804,p.Q506delinsQERREQQ|NM_007113,p.Q506delinsQERREQQ	protein_coding	uc009wne.1	nonframeshift insertion	exon3	c.1517_1518insGGAGAGGCGCGAGCAGCA	p.Q506delinsQERREQQ	EERREQQERREQQLRREQEERREQR	EERREQQERREQQERREQQLRREQE	1.0	5.0	unscreened	-	4110_1:152084175-152084175 ->TGCTGCTCGCGCCTCTCC_EERREQQERREQQERREQQLRREQE
4:5617257-5617257 ->A	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	EVC2	uc003gik.3,p.V827fs|uc003gij.3,p.V907fs|ENST00000475313,p.V827fs|ENST00000344408,p.V907fs|ENST00000344938,p.V907fs|uc011bwb.2,p.V347fs|NM_147127,p.V907fs|NM_001166136,p.V827fs|ENST00000310917,p.V827fs	protein_coding, nonsense_mediated_decay	uc011bwb.2	frameshift insertion	exon17	c.1040dupT	p.V347fs	AVAAPELQQQSKVRKSRSKSKSKGE	AVAAPELQQQSKVEKVTVQE	5.0	5.0	unscreened	-	4110_4:5617257-5617257 ->A_AVAAPELQQQSKVEKVTVQE
15:89395072-89395072 A>T	0.0	4110	CHOLANGIOCARCINOMA	-	-	-	-	ACAN	ENST00000561243,p.T692S|NM_013227,p.T692S|ENST00000439576,p.T692S|uc010upp.1,p.T692S|ENST00000559004,p.T692S|uc010upo.1,p.T692S|ENST00000352105,p.T692S|NM_001135,p.T692S	retained_intron, protein_coding	uc010upp.1	nonsynonymous SNV	exon11	c.A2074T	p.T692S	VPSPGEEEGGTPTSPSGVEEWIVTQ	VPSPGEEEGGTPSSPSGVEEWIVTQ	3.0	5.0	-	-	4110_15:89395072-89395072 A>T_VPSPGEEEGGTPSSPSGVEEWIVTQ
1:113235481-113235481 A>G	1.0	4126	LUNG	-	-	-	-	MOV10	NM_001286072,p.H301R|uc001ecm.3,p.H297R|uc001ecn.3,p.H357R|NM_001130079,p.H357R|ENST00000357443,p.H357R|uc009wgj.1,p.H297R|NM_020963,p.H357R|ENST00000369644,p.H301R|uc001ecl.2,p.H357R|uc001eck.3,p.H357R|ENST00000369645,p.H357R|ENST00000413052,p.H357R	protein_coding, processed_transcript	uc009wgj.1	nonsynonymous SNV	exon7	c.A890G	p.H297R	HLEELQMEHDIRHYDLESVPMTWDP	HLEELQMEHDIRRYDLESVPMTWDP	9.0	8.0	-	-	4126_1:113235481-113235481 A>G_HLEELQMEHDIRRYDLESVPMTWDP
16:842539-842539 G>T	1.0	4126	LUNG	-	-	-	-	CHTF18	ENST00000262315,p.R476L|uc010brf.3,p.R58L|uc002ckf.4,p.R504L|ENST00000317063,p.R671L|ENST00000455171,p.R504L|NM_022092,p.R476L|uc002cke.4,p.R476L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010brf.3	nonsynonymous SNV	exon8	c.G173T	p.R58L	GPAVPSGGGRRRRAEGGLLMRPIIC	GPAVPSGGGRRRLAEGGLLMRPIIC	8.0	8.0	-	-	4126_16:842539-842539 G>T_GPAVPSGGGRRRLAEGGLLMRPIIC
21:47581384-47581384 ->C	1.0	4126	LUNG	-	-	-	-	SPATC1L	ENST00000330205,p.V157fs|NM_032261,p.V157fs|uc011afu.2,p.V311fs|ENST00000291672,p.V311fs|NM_001142854,p.V311fs|uc002zii.3,p.V157fs	protein_coding	uc011afu.2	frameshift insertion	exon5	c.931dupG	p.V311fs	SPAALRKLVIDVVPPKFLGDSLLLL	SPAALRKLVIDVGAPQVPGRLAAAAQLPVRALQGGRQAPLRLV	8.0	3.0	unscreened	-	4126_21:47581384-47581384 ->C_SPAALRKLVIDVGAPQVPGRLAAAAQLPVRALQGGRQAPLRLV
17:2577445-2577445 G>T	1.0	4126	LUNG	-	-	-	-	PAFAH1B1	ENST00000574468,p.D87Y|ENST00000397195,p.D255Y|NM_000430,p.D255Y|ENST00000451360,p.D84Y|uc010vqz.2,p.D84Y|uc002fuw.4,p.D255Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vqz.2	nonsynonymous SNV	exon3	c.G250T	p.D84Y	NQDGTLIASCSNDQTVRVWVVATKE	NQDGTLIASCSNYQTVRVWVVATKE	10.0	4.0	-	-	4126_17:2577445-2577445 G>T_NQDGTLIASCSNYQTVRVWVVATKE
2:54877100-54877100 C>T	1.0	4126	LUNG	-	-	-	-	SPTBN1	ENST00000356805,p.H1851Y|ENST00000333896,p.H1838Y|NM_178313,p.H1838Y|uc002rxu.3,p.H1851Y|uc002rxx.3,p.H1838Y|NM_003128,p.H1851Y	retained_intron, protein_coding	uc002rxx.3	nonsynonymous SNV	exon25	c.C5512T	p.H1838Y	VETLQRMHTTFEHDIQALGTQVRQL	VETLQRMHTTFEYDIQALGTQVRQL	9.0	4.0	-	-	4126_2:54877100-54877100 C>T_VETLQRMHTTFEYDIQALGTQVRQL
19:6697537-6697537 A>T	1.0	4126	LUNG	-	-	-	-	C3	uc002mfm.3,p.F872I|ENST00000245907,p.F872I|NM_000064,p.F872I	retained_intron, protein_coding, processed_transcript	uc002mfm.3	nonsynonymous SNV	exon21	c.T2614A	p.F872I	LKVRVELLHNPAFCSLATTKRRHQQ	LKVRVELLHNPAICSLATTKRRHQQ	10.0	8.0	-	-	4126_19:6697537-6697537 A>T_LKVRVELLHNPAICSLATTKRRHQQ
3:141644507-141644507 G>C	1.0	4126	LUNG	-	-	-	-	ATP1B3	uc003eug.1,p.L268F|NM_001679,p.L268F|ENST00000286371,p.L268F|ENST00000462082,p.L78F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003eug.1	nonsynonymous SNV	exon7	c.G804C	p.L268F	ANLKSQDDRDKFLGRVMFKITARA	ANLKSQDDRDKFFGRVMFKITARA	10.0	10.0	-	-	4126_3:141644507-141644507 G>C_ANLKSQDDRDKFFGRVMFKITARA
14:105409491-105409491 C>A	1.0	4126	LUNG	-	-	-	-	AHNAK2	ENST00000333244,p.M4099I|uc001ypx.2,p.M3999I|NM_138420,p.M4099I|uc010axc.1,p.M4099I	retained_intron, protein_coding	uc010axc.1	nonsynonymous SNV	exon7	c.G12297T	p.M4099I	VTAPDVKMSLSSMEVDVQAPRAKLD	VTAPDVKMSLSSIEVDVQAPRAKLD	9.0	3.0	-	-	4126_14:105409491-105409491 C>A_VTAPDVKMSLSSIEVDVQAPRAKLD
15:25924646-25924646 T>A	1.0	4126	LUNG	-	-	-	-	ATP10A	uc010ayu.3,p.S1448C|NM_024490,p.S1448C|ENST00000356865,p.S1448C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ayu.3	nonsynonymous SNV	exon21	c.A4342T	p.S1448C	SLLNWISSWSLVSRLGSVLQFSRTE	SLLNWISSWSLVCRLGSVLQFSRTE	5.0	2.0	-	-	4126_15:25924646-25924646 T>A_SLLNWISSWSLVCRLGSVLQFSRTE
1:228582879-228582879 C>A	1.0	4126	LUNG	-	-	-	-	TRIM11	uc010pvx.2,p.G311W|uc001hss.3,p.G312W|ENST00000493030,p.G187W|ENST00000284551,p.G312W|NM_145214,p.G312W	protein_coding, processed_transcript	uc010pvx.2	nonsynonymous SNV	exon6	c.G931T	p.G311W	LILSEDRRSVQRGDLRQALPDSPER	LILSEDRRSVQRWDLRQALPDSPER	9.0	10.0	CD8	-	4126_1:228582879-228582879 C>A_LILSEDRRSVQRWDLRQALPDSPER
17:7339684-7339684 A>G	1.0	4126	LUNG	-	-	-	-	TMEM102	ENST00000396568,p.D129G|uc002ggy.2,p.D129G|uc002ggx.1,p.D129G|ENST00000323206,p.D129G|NM_178518,p.D129G	protein_coding	uc002ggy.2	nonsynonymous SNV	exon2	c.A386G	p.D129G	AGFTLLVPMFSLDGTELQLDLESCY	AGFTLLVPMFSLGGTELQLDLESCY	6.0	4.0	-	-	4126_17:7339684-7339684 A>G_AGFTLLVPMFSLGGTELQLDLESCY
8:117778974-117778974 G>T	1.0	4126	LUNG	-	-	-	-	UTP23	ENST00000517814,p.Q44H|ENST00000521703,p.Q44H|ENST00000357148,p.Q44H|ENST00000309822,p.Q44H|uc003yoc.3,p.Q44H|ENST00000517820,p.Q44H|NM_032334,p.Q44H|ENST00000521071,p.Q44H	retained_intron, protein_coding, nonsense_mediated_decay	uc003yoc.3	nonsynonymous SNV	exon1	c.G132T	p.Q44H	GTFCQAALRGRIQLREQLPRYLMGE	GTFCQAALRGRIHLREQLPRYLMGE	9.0	6.0	CD8	-	4126_8:117778974-117778974 G>T_GTFCQAALRGRIHLREQLPRYLMGE
21:46380075-46380075 G>T	1.0	4126	LUNG	-	-	-	-	FAM207A	ENST00000291634,p.W115L|ENST00000458015,p.W100L|uc002zgl.3,p.W115L|uc002zgm.3,p.W100L|ENST00000397826,p.W100L|NM_058190,p.W115L	protein_coding, processed_transcript	uc002zgm.3	nonsynonymous SNV	exon3	c.G299T	p.W100L	PKKEKMKLRREQWLQKIEAIKLAEQ	PKKEKMKLRREQLLQKIEAIKLAEQ	10.0	4.0	-	-	4126_21:46380075-46380075 G>T_PKKEKMKLRREQLLQKIEAIKLAEQ
6:43745317-43745317 G>T	1.0	4126	LUNG	-	-	-	-	VEGFA	NM_001171630,p.C77F|NM_001171629,p.C77F|ENST00000372067,p.C257F|NM_001204385,p.C257F|uc003owb.3,p.C77F|ENST00000523950,p.C77F|uc003owf.3,p.C257F|NM_001025370,p.C257F|ENST00000372064,p.C257F|NM_001025369,p.C257F|ENST00000518689,p.C77F|NM_001033756,p.C257F|NM_001171622,p.C257F|NM_001171628,p.C77F|NM_001171623,p.C77F|NM_003376,p.C257F|NM_001025367,p.C257F|ENST00000523873,p.C77F|ENST00000457104,p.C77F|NM_001025368,p.C257F|NM_001171625,p.C77F|ENST00000425836,p.C257F|NM_001025366,p.C257F|NM_001171624,p.C77F|ENST00000520948,p.C77F|ENST00000520265,p.C51F|NM_001171627,p.C77F|ENST00000523125,p.C77F|ENST00000482630,p.C257F|ENST00000417285,p.C257F|ENST00000230480,p.C49F|ENST00000372077,p.C77F|ENST00000518824,p.C77F|NM_001171626,p.C77F|ENST00000413642,p.C257F|NM_001287044,p.C49F|ENST00000372055,p.C257F|NM_001204384,p.C77F|ENST00000324450,p.C257F	retained_intron, protein_coding	uc003owf.3	nonsynonymous SNV	exon3	c.G770T	p.C257F	YPDEIEYIFKPSCVPLMRCGGCCND	YPDEIEYIFKPSFVPLMRCGGCCND	10.0	5.0	-	-	4126_6:43745317-43745317 G>T_YPDEIEYIFKPSFVPLMRCGGCCND
14:89038472-89038472 G>C	1.0	4126	LUNG	-	-	-	-	ZC3H14	uc010twe.2,p.A112P|ENST00000359301,p.A78P|ENST00000393514,p.A112P|ENST00000555120,p.A78P|uc001xwx.3,p.A112P|ENST00000555799,p.A78P|NM_024824,p.A112P|uc010twd.2,p.A112P|NM_001160103,p.A112P|ENST00000302216,p.A112P|NM_001160104,p.A112P|NM_207660,p.A112P|ENST00000251038,p.A112P|uc001xww.3,p.A112P|uc001xwy.3,p.A78P|ENST00000555755,p.A112P|NM_207661,p.A78P|ENST00000557693,p.A78P|ENST00000336693,p.A78P|ENST00000556158,p.A99P|ENST00000556945,p.A112P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010twe.2	nonsynonymous SNV	exon5	c.G334C	p.A112P	SNFSRGDERRHEAAVPPLAIPSARP	SNFSRGDERRHEPAVPPLAIPSARP	10.0	7.0	-	-	4126_14:89038472-89038472 G>C_SNFSRGDERRHEPAVPPLAIPSARP
7:56142295-56142295 C>A	1.0	4126	LUNG	-	-	-	-	SUMF2	uc011kcy.2,p.S138Y|ENST00000395436,p.S138Y|NM_001042469,p.S138Y	retained_intron, protein_coding, nonsense_mediated_decay	uc011kcy.2	nonsynonymous SNV	exon4	c.C413A	p.S138Y	KATQPMKPAGPGSGIRERLEHPVLH	KATQPMKPAGPGYGIRERLEHPVLH	10.0	5.0	-	-	4126_7:56142295-56142295 C>A_KATQPMKPAGPGYGIRERLEHPVLH
12:25380276-25380276 T>A	1.0	4126	LUNG	-	-	ID=COSM1140131,COSM553;OCCURENCE=15(lung),2(thyroid),2(haematopoietic_and_lymphoid_tissue),1(stomach),1(small_intestine),1(breast),4(skin),3(biliary_tract),52(large_intestine),1(kidney),2(pancreas),2(urinary_tract),1(soft_tissue),3(endometrium),1(salivary_gland)	1	KRAS	NM_004985,p.Q61L|NM_033360,p.Q61L|uc001rgp.1,p.Q61L|ENST00000311936,p.Q61L|ENST00000256078,p.Q61L|uc001rgq.1,p.Q61L	protein_coding	uc001rgq.1	nonsynonymous SNV	exon3	c.A182T	p.Q61L	ETCLLDILDTAGQEEYSAMRDQYMR	ETCLLDILDTAGLEEYSAMRDQYMR	7.0	7.0	-	-	4126_12:25380276-25380276 T>A_ETCLLDILDTAGLEEYSAMRDQYMR
1:111772482-111772482 G>C	1.0	4126	LUNG	-	-	-	-	CHI3L2	ENST00000486561,p.V17L|ENST00000474304,p.V17L|uc001eam.3,p.V17L|ENST00000369748,p.V17L|ENST00000445067,p.V17L|ENST00000528451,p.V17L|NM_004000,p.V17L	retained_intron, protein_coding, processed_transcript	uc001eam.3	nonsynonymous SNV	exon2	c.G49C	p.V17L	TMDQKSLWAGVVVLLLLQGGSAYKL	TMDQKSLWAGVVLLLLLQGGSAYKL	8.0	5.0	-	-	4126_1:111772482-111772482 G>C_TMDQKSLWAGVVLLLLLQGGSAYKL
4:49034612-49034612 T>A	1.0	4126	LUNG	-	-	ID=COSM734253;OCCURENCE=1(lung)	-	CWH43	ENST00000226432,p.V513E|NM_025087,p.V513E|ENST00000513409,p.V486E|uc011bzl.2,p.V486E|NM_001286791,p.V486E|uc003gyv.3,p.V513E	retained_intron, protein_coding, nonsense_mediated_decay	uc011bzl.2	nonsynonymous SNV	exon12	c.T1457A	p.V486E	TWGIMALSRYPIVKSEHHLLPSPEG	TWGIMALSRYPIEKSEHHLLPSPEG	5.0	3.0	-	-	4126_4:49034612-49034612 T>A_TWGIMALSRYPIEKSEHHLLPSPEG
7:56142295-56142295 C>A	1.0	4126	LUNG	-	-	-	-	SUMF2	uc011kcw.2,p.S153Y|ENST00000451338,p.S151Y|ENST00000434526,p.S153Y|ENST00000413952,p.S156Y|ENST00000342190,p.S153Y|ENST00000413756,p.S134Y|NM_001130069,p.S153Y|uc003trt.3,p.S46Y|NM_001146333,p.S46Y|NM_015411,p.S153Y|ENST00000447501,p.S134Y|ENST00000275607,p.S46Y|uc003trv.3,p.S153Y	retained_intron, protein_coding, nonsense_mediated_decay	uc011kcw.2	nonsynonymous SNV	exon5	c.C458A	p.S153Y	EKAFWRQPAGPGSGIRERLEHPVLH	EKAFWRQPAGPGYGIRERLEHPVLH	10.0	5.0	-	-	4126_7:56142295-56142295 C>A_EKAFWRQPAGPGYGIRERLEHPVLH
2:136873034-136873034 A>G	0.0	4126	LUNG	-	-	-	1	CXCR4	uc002tuy.3,p.V159A|ENST00000409817,p.V159A|uc002tuz.3,p.V155A|ENST00000241393,p.V155A|uc010fnk.3,p.V140A|NM_003467,p.V155A|NM_001008540,p.V159A	protein_coding, processed_transcript	uc010fnk.3	nonsynonymous SNV	exon2	c.T419C	p.V140A	NSQRPRKLLAEKVVYVGVWIPALLL	NSQRPRKLLAEKAVYVGVWIPALLL	8.0	1.0	-	-	4126_2:136873034-136873034 A>G_NSQRPRKLLAEKAVYVGVWIPALLL
20:60887463-60887463 T>A	1.0	4126	LUNG	-	-	-	-	LAMA5	ENST00000252999,p.D3118V|uc002ycq.3,p.D3118V|NM_005560,p.D3118V|uc021wfw.1,p.D3118V|ENST00000370691,p.D283V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wfw.1	nonsynonymous SNV	exon68	c.A9353T	p.D3118V	LNTTGVSAGCTADLLVGRAMTFHGH	LNTTGVSAGCTAVLLVGRAMTFHGH	9.0	7.0	-	-	4126_20:60887463-60887463 T>A_LNTTGVSAGCTAVLLVGRAMTFHGH
7:44714065-44714065 G>T	1.0	4126	LUNG	-	-	-	-	OGDH	uc011kby.2,p.G132C|ENST00000447398,p.G293C|uc011kbz.2,p.G77C|NM_002541,p.G282C|NM_001165036,p.G278C|NM_001003941,p.G282C|ENST00000444676,p.G297C|uc011kbx.2,p.G278C|ENST00000439616,p.G132C|ENST00000222673,p.G282C|ENST00000543843,p.G233C|uc003tln.3,p.G282C|uc003tlm.3,p.G282C|ENST00000449767,p.G278C|ENST00000443864,p.G282C|uc003tlp.3,p.G293C|uc003tlo.1,p.G115C	retained_intron, protein_coding, processed_transcript	uc011kbz.2	nonsynonymous SNV	exon5	c.G229T	p.G77C	RKWSSEKRFGLEGCEVLIPALKTII	RKWSSEKRFGLECCEVLIPALKTII	9.0	8.0	-	-	4126_7:44714065-44714065 G>T_RKWSSEKRFGLECCEVLIPALKTII
1:156235763-156235763 G>A	1.0	4126	LUNG	-	-	-	-	SMG5	NM_015327,p.P555L|uc001foc.4,p.P555L|ENST00000361813,p.P555L	protein_coding, processed_transcript	uc001foc.4	nonsynonymous SNV	exon12	c.C1664T	p.P555L	RGRSEAPDSLNGPLGPSEASIASNL	RGRSEAPDSLNGLLGPSEASIASNL	10.0	2.0	-	-	4126_1:156235763-156235763 G>A_RGRSEAPDSLNGLLGPSEASIASNL
15:81295552-81295552 G>T	1.0	4126	LUNG	-	-	-	-	MESDC1	ENST00000267984,p.D314Y|NM_022566,p.D314Y|uc002bfz.3,p.D314Y	protein_coding	uc002bfz.3	nonsynonymous SNV	exon1	c.G940T	p.D314Y	LTQCLRDLAQHPDGGAKMSDHRERL	LTQCLRDLAQHPYGGAKMSDHRERL	8.0	4.0	-	-	4126_15:81295552-81295552 G>T_LTQCLRDLAQHPYGGAKMSDHRERL
2:220166874-220166874 G>T	1.0	4126	LUNG	-	-	-	-	PTPRN	uc010zlc.2,p.P237T|ENST00000409251,p.P327T|NM_001199764,p.P237T|NM_002846,p.P327T|ENST00000295718,p.P327T|uc002vkz.3,p.P327T|uc002vla.3,p.P327T|ENST00000423636,p.P237T|NM_001199763,p.P327T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zlc.2	nonsynonymous SNV	exon6	c.C709A	p.P237T	EGLGDRGEKPASPAVQPDAALQRLA	EGLGDRGEKPASTAVQPDAALQRLA	7.0	4.0	-	-	4126_2:220166874-220166874 G>T_EGLGDRGEKPASTAVQPDAALQRLA
2:225376071-225376071 C>T	0.0	4126	LUNG	-	-	-	2	CUL3	uc002vny.3,p.D295N|NM_001257198,p.D301N|ENST00000264414,p.D295N|uc010zls.2,p.D229N|NM_003590,p.D295N|ENST00000344951,p.D229N|ENST00000409777,p.D271N|ENST00000409096,p.D271N|NM_001257197,p.D229N|uc010fwy.2,p.D301N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zls.2	nonsynonymous SNV	exon5	c.G685A	p.D229N	GLVHMLKNGKTEDLGCMYKLFSRVP	GLVHMLKNGKTENLGCMYKLFSRVP	8.0	1.0	unscreened	-	4126_2:225376071-225376071 C>T_GLVHMLKNGKTENLGCMYKLFSRVP
2:29375663-29375663 C>G	1.0	4126	LUNG	-	-	-	-	CLIP4	NM_024692,p.D378E|ENST00000404424,p.D378E|uc002rmv.3,p.D378E|ENST00000401617,p.D271E|ENST00000401605,p.D378E|ENST00000320081,p.D378E|uc002rmu.3,p.D378E|uc010ezm.1,p.D378E|NM_001287528,p.D378E|NM_001287527,p.D378E|uc010ymn.1,p.D360E|ENST00000415891,p.D378E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ymn.1	nonsynonymous SNV	exon8	c.C1080G	p.D360E	KAAVPLIRSQKIDVAHVTSKVNTGL	KAAVPLIRSQKIEVAHVTSKVNTGL	7.0	4.0	-	-	4126_2:29375663-29375663 C>G_KAAVPLIRSQKIEVAHVTSKVNTGL
2:175268912-175268912 A>C	1.0	4126	LUNG	-	-	-	-	SCRN3	ENST00000409673,p.K201T|NM_001193528,p.K201T|ENST00000272732,p.K208T|uc002uiq.3,p.K208T|NM_024583,p.K208T|uc010zen.2,p.K201T	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zen.2	nonsynonymous SNV	exon5	c.A602C	p.K201T	IAREHPDMRNYAKRKGWWDGKKEFD	IAREHPDMRNYATRKGWWDGKKEFD	7.0	3.0	-	-	4126_2:175268912-175268912 A>C_IAREHPDMRNYATRKGWWDGKKEFD
20:2776484-2776484 C>A	0.0	4126	LUNG	-	-	-	-	CPXM1	uc010gas.3,p.S494I|NM_001184699,p.S494I	protein_coding	uc010gas.3	nonsynonymous SNV	exon11	c.G1481T	p.S494I	VIKWMKRIPFVLSANLHGGMNDFSY	VIKWMKRIPFVLIANLHGGMNDFSY	6.0	1.0	unscreened	-	4126_20:2776484-2776484 C>A_VIKWMKRIPFVLIANLHGGMNDFSY
1:52861808-52861808 T>-	1.0	4126	LUNG	-	-	-	-	ORC1	NM_001190818,p.R211fs|ENST00000371568,p.R211fs|uc001ctt.3,p.R211fs|uc001ctu.3,p.R211fs|uc010oni.2,p.R211fs|ENST00000371566,p.R211fs|NM_004153,p.R211fs|NM_001190819,p.R211fs	protein_coding, processed_transcript	uc010oni.2	frameshift deletion	exon5	c.631delA	p.R211fs	SPSWTPAEHVAKRIESRHSASKSRQ	SPSWTPAEHVAKGLNQGTPPPNLAKLLPILLPQEPERGWSLAT	5.0	8.0	unscreened	-	4126_1:52861808-52861808 T>-_SPSWTPAEHVAKGLNQGTPPPNLAKLLPILLPQEPERGWSLAT
8:38273507-38273507 G>T	0.0	4126	LUNG	-	-	-	1	FGFR1	NM_023105,p.P490T|ENST00000335922,p.P569T|uc011lbu.2,p.P610T|uc022auc.1,p.P490T|NM_001174065,p.P577T|uc003xlp.3,p.P577T|ENST00000326324,p.P488T|ENST00000397113,p.P577T|NM_023106,p.P488T|uc022aud.1,p.P488T|uc010lwk.3,p.P569T|uc011lbw.2,p.P490T|ENST00000532791,p.P577T|ENST00000356207,p.P490T|ENST00000397103,p.P490T|ENST00000397108,p.P577T|uc022aub.1,p.P577T|ENST00000447712,p.P579T|uc022aua.1,p.P579T|ENST00000341462,p.P579T|NM_015850,p.P577T|NM_023110,p.P579T|NM_001174064,p.P569T|ENST00000397091,p.P577T|ENST00000425967,p.P610T|NM_001174063,p.P577T|NM_001174066,p.P490T|uc011lbv.2,p.P577T|NM_001174067,p.P610T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022aud.1	nonsynonymous SNV	exon12	c.C1462A	p.P488T	GNLREYLQARRPPGLEYCYNPSHNP	GNLREYLQARRPTGLEYCYNPSHNP	8.0	6.0	unscreened	-	4126_8:38273507-38273507 G>T_GNLREYLQARRPTGLEYCYNPSHNP
19:10610456-10610459 TACT>-	0.0	4126	LUNG	-	-	-	1	KEAP1	NM_012289,p.K84fs|ENST00000591039,p.K84fs|ENST00000592055,p.K84fs|ENST00000171111,p.K84fs|ENST00000393623,p.K84fs|ENST00000591419,p.K84fs|uc002moq.1,p.K84fs|NM_203500,p.K84fs|uc002mor.1,p.K84fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mor.1	frameshift deletion	exon2	c.251_254del	p.K84fs	LSQQLCDVTLQVKYQDAPAAQFMAH	LSQQLCDVTLQVTRMHRPPSSWPTRWCWPHPALSSRPCSPTGCGSRAWRWCPLRVSTPRSWSASLNSPTRPPSPWARSVSSTS	8.0	10.0	unscreened	-	4126_19:10610456-10610459 TACT>-_LSQQLCDVTLQVTRMHRPPSSWPTRWCWPHPALSSRPCSPTGCGSRAWRWCPLRVSTPRSWSASLNSPTRPPSPWARSVSSTS
20:2776484-2776484 C>A	0.0	4126	LUNG	-	-	-	-	CPXM1	NM_019609,p.S494I|ENST00000380605,p.S494I|uc002wgu.3,p.S494I	protein_coding	uc002wgu.3	nonsynonymous SNV	exon11	c.G1481T	p.S494I	VIKWMKRIPFVLSANLHGGELVVSY	VIKWMKRIPFVLIANLHGGELVVSY	6.0	1.0	unscreened	-	4126_20:2776484-2776484 C>A_VIKWMKRIPFVLIANLHGGELVVSY
15:51017458-51017458 C>T	1.0	4126	LUNG	-	-	-	-	SPPL2A	NM_032802,p.M403I|ENST00000261854,p.M403I|uc001zyv.3,p.M403I	retained_intron, protein_coding, processed_transcript	uc001zyv.3	nonsynonymous SNV	exon12	c.G1209A	p.M403I	KLIYFSVMSVCLMPVSILGFGDIIV	KLIYFSVMSVCLIPVSILGFGDIIV	9.0	1.0	-	-	4126_15:51017458-51017458 C>T_KLIYFSVMSVCLIPVSILGFGDIIV
8:48866460-48866460 ->GCA	0.0	4126	LUNG	-	-	-	-	PRKDC	uc003xqj.3,p.E176delinsDA|uc003xqi.3,p.E176delinsDA|ENST00000314191,p.E176delinsDA|ENST00000338368,p.E176delinsDA	retained_intron, protein_coding, processed_transcript	uc003xqj.3	nonframeshift insertion	exon6	c.527_528insTGC	p.E176delinsDA	KKIPDTVLEKVYELLGLLGEVHPSE	KKIPDTVLEKVYDALLGLLGEVHPS	9.0	5.0	-	-	4126_8:48866460-48866460 ->GCA_KKIPDTVLEKVYDALLGLLGEVHPS
6:33423996-33423996 ->G	0.0	4126	LUNG	-	-	-	-	ZBTB9	uc003oeq.3,p.L373fs|NM_152735,p.L373fs|ENST00000395064,p.L373fs|uc021ywp.1,p.L373fs	protein_coding, processed_transcript	uc021ywp.1	frameshift insertion	exon1	c.1120dupG	p.L373fs	GGAGQAVHGPVKLGGTPPADGKRFG	GGAGQAVHGPVKLGGDTPCRWKTLWLPVWEAVCSEAKA	6.0	1.0	unscreened	-	4126_6:33423996-33423996 ->G_GGAGQAVHGPVKLGGDTPCRWKTLWLPVWEAVCSEAKA
1:223408366-223408366 G>C	0.0	4126	LUNG	-	-	-	-	SUSD4	uc001hnz.2,p.C267W|ENST00000344029,p.C267W|NM_001037175,p.C267W	protein_coding, processed_transcript	uc001hnz.2	nonsynonymous SNV	exon6	c.C801G	p.C267W	PHIRLAAAVLYFCPVLKSSPTPAPT	PHIRLAAAVLYFWPVLKSSPTPAPT	3.0	1.0	-	-	4126_1:223408366-223408366 G>C_PHIRLAAAVLYFWPVLKSSPTPAPT
16:89167261-89167261 G>T	1.0	4126	LUNG	-	-	-	-	ACSF3	NM_174917,p.A58S|NM_001127214,p.A58S|NM_001243279,p.A58S|ENST00000542688,p.A58S|ENST00000406948,p.A58S|ENST00000537290,p.A58S|ENST00000317447,p.A58S|uc010cig.2,p.A58S|uc002fmp.3,p.A58S|uc021tmq.1,p.A58S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tmq.1	nonsynonymous SNV	exon3	c.G172T	p.A58S	VFTRALAFGDRIALVDQHGRHTYRE	VFTRALAFGDRISLVDQHGRHTYRE	8.0	6.0	-	-	4126_16:89167261-89167261 G>T_VFTRALAFGDRISLVDQHGRHTYRE
3:121712634-121712634 C>A	0.0	4126	LUNG	-	-	-	-	ILDR1	ENST00000393631,p.G232V|NM_175924,p.G277V|ENST00000344209,p.G321V|uc003ees.3,p.G321V|uc003eer.3,p.G277V|ENST00000462014,p.G289V|NM_001199799,p.G321V|ENST00000273691,p.G277V|uc003eeq.3,p.G289V|uc010hrg.3,p.G232V|NM_001199800,p.G232V	protein_coding, processed_transcript	uc010hrg.3	nonsynonymous SNV	exon5	c.G695T	p.G232V	RFGHPCSMLSSLGSEVVERRIIHLP	RFGHPCSMLSSLVSEVVERRIIHLP	6.0	3.0	unscreened	-	4126_3:121712634-121712634 C>A_RFGHPCSMLSSLVSEVVERRIIHLP
6:87970512-87970512 A>T	0.0	4126	LUNG	-	-	-	-	ZNF292	ENST00000339907,p.M2384L|uc003plm.4,p.M2389L|ENST00000369577,p.M2389L|NM_015021,p.M2389L	protein_coding, processed_transcript	uc003plm.4	nonsynonymous SNV	exon8	c.A7165T	p.M2389L	ECTSRFVTQYPCMIKGCTSVVTSES	ECTSRFVTQYPCLIKGCTSVVTSES	7.0	9.0	-	-	4126_6:87970512-87970512 A>T_ECTSRFVTQYPCLIKGCTSVVTSES
4:90169517-90169517 G>C	1.0	4126	LUNG	-	-	-	-	GPRIN3	uc021xqb.1,p.P582R|ENST00000333209,p.P582R|uc003hsm.1,p.P582R|NM_198281,p.P582R	protein_coding	uc021xqb.1	nonsynonymous SNV	exon1	c.C1745G	p.P582R	ESGGTESAANPTPSPIRKNQESTLE	ESGGTESAANPTRSPIRKNQESTLE	5.0	1.0	-	-	4126_4:90169517-90169517 G>C_ESGGTESAANPTRSPIRKNQESTLE
11:65545349-65545349 C>A	0.0	4126	LUNG	-	-	-	-	AP5B1	ENST00000532090,p.R872L|NM_138368,p.R872L|uc031qbm.1,p.R872L	protein_coding	uc031qbm.1	nonsynonymous SNV	exon2	c.G2615T	p.R872L	DWAVLPLAGDYLRGLAAAV	DWAVLPLAGDYLLGLAAAV	6.0	6.0	unscreened	-	4126_11:65545349-65545349 C>A_DWAVLPLAGDYLLGLAAAV
13:41328211-41328211 C>A	1.0	4126	LUNG	-	-	-	-	MRPS31	uc001uxm.4,p.G253V|ENST00000323563,p.G253V|NM_005830,p.G253V	protein_coding, processed_transcript	uc001uxm.4	nonsynonymous SNV	exon5	c.G758T	p.G253V	TDDLKKRKNIFTGKRLNIFDMMAVT	TDDLKKRKNIFTVKRLNIFDMMAVT	6.0	1.0	-	-	4126_13:41328211-41328211 C>A_TDDLKKRKNIFTVKRLNIFDMMAVT
14:102471273-102471273 A>T	0.0	4126	LUNG	-	-	-	-	DYNC1H1	ENST00000360184,p.I1742F|NM_001376,p.I1742F|uc001yks.2,p.I1742F	retained_intron, protein_coding, processed_transcript	uc001yks.2	nonsynonymous SNV	exon25	c.A5224T	p.I1742F	ATSIDPNTYITWIDKYQAQLVVLSA	ATSIDPNTYITWFDKYQAQLVVLSA	10.0	5.0	-	-	4126_14:102471273-102471273 A>T_ATSIDPNTYITWFDKYQAQLVVLSA
6:152551708-152551708 C>A	0.0	4126	LUNG	-	-	-	-	SYNE1	NM_182961,p.V7057F|ENST00000423061,p.V6986F|uc003qou.4,p.V7057F|ENST00000356820,p.V1581F|NM_033071,p.V6986F|uc003qot.4,p.V6986F|ENST00000367255,p.V7057F|ENST00000341594,p.V6669F|uc003qos.4,p.V1581F|ENST00000448038,p.V6986F|ENST00000265368,p.V7057F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003qou.4	nonsynonymous SNV	exon115	c.G21169T	p.V7057F	LKQQHRIGDQASVQNALKDCQDLED	LKQQHRIGDQASFQNALKDCQDLED	6.0	10.0	-	-	4126_6:152551708-152551708 C>A_LKQQHRIGDQASFQNALKDCQDLED
3:155571624-155571624 C>G	1.0	4126	LUNG	-	-	-	-	SLC33A1	NM_004733,p.D55H|uc003fan.4,p.D55H|ENST00000359479,p.D55H|NM_001190992,p.D55H|ENST00000392845,p.D55H|uc003fao.2,p.D55H	protein_coding, processed_transcript, nonsense_mediated_decay	uc003fao.2	nonsynonymous SNV	exon1	c.G163C	p.D55H	AGREGDREALLGDTGTGDFLKAPQS	AGREGDREALLGHTGTGDFLKAPQS	7.0	7.0	-	-	4126_3:155571624-155571624 C>G_AGREGDREALLGHTGTGDFLKAPQS
7:44157547-44157547 C>T	1.0	4126	LUNG	-	-	-	-	POLD2	uc003tkf.5,p.E148K|NM_001127218,p.E113K|ENST00000406581,p.E113K|NM_006230,p.E148K|ENST00000433715,p.E113K|ENST00000223361,p.E113K|ENST00000418438,p.E113K|ENST00000452185,p.E113K|uc010kxz.4,p.E113K|uc010kya.4,p.E113K|NM_001256879,p.E113K|ENST00000456038,p.E113K	retained_intron, protein_coding, processed_transcript	uc010kya.4	nonsynonymous SNV	exon3	c.G337A	p.E113K	MPLQPSILREVSEEHNLLPQPPRSK	MPLQPSILREVSKEHNLLPQPPRSK	10.0	4.0	-	-	4126_7:44157547-44157547 C>T_MPLQPSILREVSKEHNLLPQPPRSK
11:68548157-68548157 T>C	1.0	4126	LUNG	-	-	-	-	CPT1A	ENST00000265641,p.N470S|ENST00000539743,p.N470S|ENST00000540367,p.N470S|uc001oog.4,p.N470S|NM_001031847,p.N470S|NM_001876,p.N470S|uc001oof.4,p.N470S|ENST00000376618,p.N470S	protein_coding, processed_transcript, nonsense_mediated_decay	uc001oog.4	nonsynonymous SNV	exon12	c.A1409G	p.N470S	TFVVFKNGKMGLNAEHSWADAPIVA	TFVVFKNGKMGLSAEHSWADAPIVA	8.0	8.0	-	-	4126_11:68548157-68548157 T>C_TFVVFKNGKMGLSAEHSWADAPIVA
11:76918442-76918442 G>C	0.0	4126	LUNG	-	-	-	-	MYO7A	uc001oyc.2,p.D1913H|NM_001127180,p.D1913H|ENST00000409709,p.D1951H|ENST00000458169,p.D1093H|uc001oyb.2,p.D1951H|ENST00000409619,p.D1902H|NM_000260,p.D1951H|ENST00000458637,p.D1913H	retained_intron, protein_coding, processed_transcript	uc001oyc.2	nonsynonymous SNV	exon42	c.G5737C	p.D1913H	SSEGFSLFVKIADKVLSVPENDFFF	SSEGFSLFVKIAHKVLSVPENDFFF	6.0	4.0	unscreened	-	4126_11:76918442-76918442 G>C_SSEGFSLFVKIAHKVLSVPENDFFF
11:13375862-13375862 G>T	1.0	4126	LUNG	-	-	-	-	ARNTL	NM_001178,p.D3Y|ENST00000529388,p.D3Y|uc001mkq.3,p.D3Y|ENST00000533520,p.D3Y|ENST00000534544,p.D3Y|ENST00000527998,p.D3Y|NM_001297719,p.D3Y|ENST00000403290,p.D3Y|ENST00000361003,p.D3Y|ENST00000529050,p.D3Y|NM_001030272,p.D3Y|ENST00000531665,p.D3Y|NM_001297722,p.D3Y|uc001mkt.3,p.D3Y|uc001mkp.3,p.D3Y|uc001mkr.3,p.D3Y|ENST00000389708,p.D3Y|ENST00000389707,p.D3Y|ENST00000396441,p.D3Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001mkt.3	nonsynonymous SNV	exon4	c.G7T	p.D3Y	MADQRMDISSTISDF	MAYQRMDISSTISDF	7.0	5.0	-	-	4126_11:13375862-13375862 G>T_MAYQRMDISSTISDF
17:18143903-18143903 G>T	0.0	4126	LUNG	-	-	-	-	LLGL1	ENST00000316843,p.G740W|uc002gsp.3,p.G740W|NM_004140,p.G740W	retained_intron, protein_coding	uc002gsp.3	nonsynonymous SNV	exon17	c.G2218T	p.G740W	FADTFLRDGAHHGPTMWAGTNSGSV	FADTFLRDGAHHWPTMWAGTNSGSV	7.0	8.0	unscreened	-	4126_17:18143903-18143903 G>T_FADTFLRDGAHHWPTMWAGTNSGSV
13:103400258-103400258 A>T	0.0	4126	LUNG	-	-	-	-	CCDC168	NM_001146197,p.L930Q|uc001vpm.3,p.L930Q	protein_coding, processed_transcript	uc001vpm.3	nonsynonymous SNV	exon4	c.T2789A	p.L930Q	SELTQGFRFSIHLKQKPKYVKFQME	SELTQGFRFSIHQKQKPKYVKFQME	6.0	2.0	unscreened	-	4126_13:103400258-103400258 A>T_SELTQGFRFSIHQKQKPKYVKFQME
16:27512562-27512562 G>A	0.0	4126	LUNG	-	-	-	-	GTF3C1	NM_001520,p.L671F|NM_001286242,p.L671F|ENST00000356183,p.L671F|ENST00000561623,p.L671F|uc002dou.3,p.L671F|uc002dov.2,p.L671F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dov.2	nonsynonymous SNV	exon12	c.C2011T	p.L671F	IVRLVRNLSEEGLLRLYRTTVIQDG	IVRLVRNLSEEGFLRLYRTTVIQDG	9.0	5.0	unscreened	-	4126_16:27512562-27512562 G>A_IVRLVRNLSEEGFLRLYRTTVIQDG
5:140308192-140308192 G>T	1.0	4126	LUNG	-	-	-	-	PCDHAC1	ENST00000409700,p.R572L|NM_018898,p.R572L|uc003lig.1,p.R572L|uc003lih.2,p.R572L|NM_031882,p.R572L|ENST00000253807,p.R572L	protein_coding	uc003lih.2	nonsynonymous SNV	exon1	c.G1715T	p.R572L	PRNGSVPVEIVPRSARTGHLVTKVV	PRNGSVPVEIVPLSARTGHLVTKVV	4.0	2.0	-	-	4126_5:140308192-140308192 G>T_PRNGSVPVEIVPLSARTGHLVTKVV
14:68274184-68274184 A>G	0.0	4126	LUNG	-	-	-	-	ZFYVE26	uc010tta.2,p.S273P|ENST00000554557,p.S273P|uc001xkc.4,p.S273P|ENST00000347230,p.S273P|ENST00000555452,p.S273P|NM_015346,p.S273P|uc001xka.2,p.S273P	retained_intron, protein_coding, nonsense_mediated_decay	uc010tta.2	nonsynonymous SNV	exon5	c.T817C	p.S273P	SCLLHKASRGLLSLYGHTYAEKVTE	SCLLHKASRGLLPLYGHTYAEKVTE	7.0	3.0	-	-	4126_14:68274184-68274184 A>G_SCLLHKASRGLLPLYGHTYAEKVTE
17:7800534-7800534 A>G	1.0	4126	LUNG	-	-	-	-	CHD3	NM_001005271,p.Y673C|NM_001005273,p.Y614C|uc002gjd.2,p.Y673C|ENST00000380358,p.Y673C|uc002gjg.1,p.Y442C|ENST00000358181,p.Y614C|ENST00000330494,p.Y614C|uc002gjf.2,p.Y614C|NM_005852,p.Y614C|uc002gje.2,p.Y614C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gjg.1	nonsynonymous SNV	exon8	c.A1325G	p.Y442C	GKSDKRKVKDPHYAEMEEKYYRFGI	GKSDKRKVKDPHCAEMEEKYYRFGI	10.0	5.0	-	-	4126_17:7800534-7800534 A>G_GKSDKRKVKDPHCAEMEEKYYRFGI
2:155099240-155099240 G>T	1.0	4126	LUNG	-	-	-	-	GALNT13	uc002tyr.4,p.V170L|uc002tyt.4,p.V170L|NM_001301627,p.V170L|ENST00000409237,p.V170L|ENST00000392825,p.V170L|NM_052917,p.V170L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tyt.4	nonsynonymous SNV	exon4	c.G508T	p.V170L	ERDFLKLTLENYVKNLEVPVKIIRM	ERDFLKLTLENYLKNLEVPVKIIRM	4.0	10.0	-	-	4126_2:155099240-155099240 G>T_ERDFLKLTLENYLKNLEVPVKIIRM
12:6958813-6958813 C>T	1.0	4126	LUNG	-	-	-	-	CDCA3	NM_031299,p.E154K|uc001qre.2,p.E154K|ENST00000229265,p.E129K|NM_001297602,p.E129K|ENST00000540683,p.E154K|NM_001297604,p.E154K|ENST00000422785,p.E154K|NM_001297603,p.E154K|uc001qrg.2,p.E154K|ENST00000538862,p.E154K|ENST00000535406,p.E154K	retained_intron, protein_coding, processed_transcript	uc001qrg.2	nonsynonymous SNV	exon4	c.G460A	p.E154K	TEFPSKQVFSKEEARQPTETPVASQ	TEFPSKQVFSKEKARQPTETPVASQ	8.0	2.0	-	-	4126_12:6958813-6958813 C>T_TEFPSKQVFSKEKARQPTETPVASQ
13:36379865-36379865 C>T	1.0	4126	LUNG	-	-	-	-	DCLK1	NM_001195415,p.V332I|NM_004734,p.V639I|uc001uve.4,p.V332I|NM_001195416,p.V332I|ENST00000379893,p.V332I|uc010abk.3,p.V159I|ENST00000255448,p.V639I|uc001uvf.3,p.V639I|ENST00000360631,p.V639I|uc010teh.2,p.V332I	protein_coding, processed_transcript	uc010teh.2	nonsynonymous SNV	exon11	c.G994A	p.V332I	MLLVDVDQRFSAVQVLEHPWVNDDG	MLLVDVDQRFSAIQVLEHPWVNDDG	3.0	4.0	-	-	4126_13:36379865-36379865 C>T_MLLVDVDQRFSAIQVLEHPWVNDDG
1:34254294-34254294 ->GACCGA	0.0	4126	LUNG	-	-	-	-	CSMD2	uc001bxm.1,p.P524delinsSVP|NM_001281956,p.P524delinsSVP|ENST00000373381,p.P524delinsSVP|NM_052896,p.P484delinsSVP|uc001bxn.1,p.P484delinsSVP|ENST00000241312,p.P484delinsSVP|ENST00000338325,p.P132delinsSVP	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxn.1	nonframeshift insertion	exon12	c.1449_1450insTCGGTC	p.P484delinsSVP	KTVLYILTGTSVPDLIVSTNHQMWL	KTVLYILTGTSVSVPDLIVSTNHQM	2.0	9.0	unscreened	-	4126_1:34254294-34254294 ->GACCGA_KTVLYILTGTSVSVPDLIVSTNHQM
11:65545347-65545347 C>A	0.0	4126	LUNG	-	-	-	-	AP5B1	uc031qbm.1,p.G873W|NM_138368,p.G873W|ENST00000532090,p.G873W	protein_coding	uc031qbm.1	nonsynonymous SNV	exon2	c.G2617T	p.G873W	WAVLPLAGDYLRGLAAAV	WAVLPLAGDYLRWLAAAV	6.0	6.0	unscreened	-	4126_11:65545347-65545347 C>A_WAVLPLAGDYLRWLAAAV
19:38937399-38937399 T>A	0.0	4126	LUNG	-	-	-	-	RYR1	ENST00000355481,p.L264Q|uc002oiu.3,p.L264Q|NM_001042723,p.L264Q|ENST00000359596,p.L264Q|ENST00000360985,p.L264Q|NM_000540,p.L264Q|uc002oit.3,p.L264Q	retained_intron, protein_coding, nonsense_mediated_decay	uc002oiu.3	nonsynonymous SNV	exon9	c.T791A	p.L264Q	CTHARSLWRLEPLRISWSGSHLRWG	CTHARSLWRLEPQRISWSGSHLRWG	4.0	10.0	unscreened	-	4126_19:38937399-38937399 T>A_CTHARSLWRLEPQRISWSGSHLRWG
11:5068215-5068215 C>A	0.0	4126	LUNG	-	-	-	-	OR52J3	ENST00000380370,p.P154T|NM_001001916,p.P154T|uc010qyv.2,p.P154T	protein_coding	uc010qyv.2	nonsynonymous SNV	exon1	c.C460A	p.P154T	VLVGISMCIVIRPVLLTLPMVYLIY	VLVGISMCIVIRTVLLTLPMVYLIY	1.0	2.0	unscreened	-	4126_11:5068215-5068215 C>A_VLVGISMCIVIRTVLLTLPMVYLIY
6:150209755-150209755 G>T	1.0	4126	LUNG	-	-	-	-	RAET1E	ENST00000367363,p.P188Q|ENST00000357183,p.P224Q|NM_001243325,p.P188Q|uc003qnl.1,p.P224Q|uc003qnk.2,p.P188Q|NM_139165,p.P224Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc003qnl.1	nonsynonymous SNV	exon4	c.C671A	p.P224Q	NASDIHWSSSSLPDRWIILGAFILL	NASDIHWSSSSLQDRWIILGAFILL	8.0	3.0	-	-	4126_6:150209755-150209755 G>T_NASDIHWSSSSLQDRWIILGAFILL
17:62290230-62290230 C>T	0.0	4126	LUNG	-	-	-	-	TEX2	ENST00000583097,p.A450T|ENST00000584379,p.A450T|NM_018469,p.A450T|NM_001288733,p.A450T|NM_001288732,p.A450T|uc002jec.3,p.A450T|uc002jed.3,p.A450T|ENST00000258991,p.A450T|uc002jee.3,p.A450T	retained_intron, protein_coding, processed_transcript	uc002jee.3	nonsynonymous SNV	exon2	c.G1348A	p.A450T	KLSDIPLKPEVLAEDGVVLDSEDEV	KLSDIPLKPEVLTEDGVVLDSEDEV	7.0	6.0	-	-	4126_17:62290230-62290230 C>T_KLSDIPLKPEVLTEDGVVLDSEDEV
20:34242981-34242981 C>G	0.0	4126	LUNG	-	-	-	-	RBM12	NM_152838,p.R88S|uc021wcq.1,p.R88S|ENST00000374114,p.R88S|uc021wcr.1,p.R88S|uc002xdr.3,p.R88S|NM_006047,p.R88S|ENST00000435161,p.R88S|uc002xds.3,p.R88S|ENST00000374104,p.R88S|ENST00000359646,p.R88S|uc002xdq.3,p.R88S|NM_001198838,p.R88S|NM_001198840,p.R88S|ENST00000424458,p.R88S|ENST00000431148,p.R88S	protein_coding	uc021wcr.1	nonsynonymous SNV	exon1	c.G264C	p.R88S	KTEMQNMIELSRRRFETANLDIPPA	KTEMQNMIELSRSRFETANLDIPPA	8.0	1.0	unscreened	-	4126_20:34242981-34242981 C>G_KTEMQNMIELSRSRFETANLDIPPA
20:51872368-51872368 G>T	0.0	4126	LUNG	-	-	-	-	TSHZ2	uc002xwo.3,p.A791S|NM_173485,p.A791S|uc021wex.1,p.A788S|NM_001193421,p.A788S|ENST00000329613,p.A788S|ENST00000371497,p.A791S|ENST00000603338,p.A788S	protein_coding, processed_transcript	uc021wex.1	nonsynonymous SNV	exon2	c.G2362T	p.A788S	QAQSCMSPPQKHALSDIADMVKVLP	QAQSCMSPPQKHSLSDIADMVKVLP	5.0	4.0	-	-	4126_20:51872368-51872368 G>T_QAQSCMSPPQKHSLSDIADMVKVLP
2:219029171-219029171 C>A	0.0	4126	LUNG	-	-	-	-	CXCR1	NM_000634,p.W255L|uc002vhc.3,p.W255L|uc021vwq.1,p.W255L|ENST00000295683,p.W255L	protein_coding	uc021vwq.1	nonsynonymous SNV	exon1	c.G764T	p.W255L	VIFAVVLIFLLCWLPYNLVLLADTL	VIFAVVLIFLLCLLPYNLVLLADTL	3.0	6.0	-	-	4126_2:219029171-219029171 C>A_VIFAVVLIFLLCLLPYNLVLLADTL
9:35403193-35403193 G>C	1.0	4126	LUNG	-	-	-	-	UNC13B	ENST00000378496,p.V1442L|ENST00000396787,p.V1454L|uc003zwr.3,p.V1442L	protein_coding, processed_transcript	uc003zwr.3	nonsynonymous SNV	exon38	c.G4324C	p.V1442L	EKGSGVDDPVGEVSIQVDLFTHPGT	EKGSGVDDPVGELSIQVDLFTHPGT	5.0	10.0	-	-	4126_9:35403193-35403193 G>C_EKGSGVDDPVGELSIQVDLFTHPGT
9:35403193-35403193 G>C	1.0	4126	LUNG	-	-	-	-	UNC13B	NM_006377,p.V1423L|uc003zwq.3,p.V1423L|ENST00000378495,p.V1423L	protein_coding, processed_transcript	uc003zwq.3	nonsynonymous SNV	exon37	c.G4267C	p.V1423L	TQGSGVDDPVGEVSIQVDLFTHPGT	TQGSGVDDPVGELSIQVDLFTHPGT	5.0	10.0	-	-	4126_9:35403193-35403193 G>C_TQGSGVDDPVGELSIQVDLFTHPGT
1:99164375-99164375 A>-	0.0	4126	LUNG	-	-	-	-	SNX7	uc010ouc.2,p.K318fs|NM_015976,p.K318fs|ENST00000370189,p.K254fs|ENST00000306121,p.K318fs|NM_152238,p.K263fs|uc001dsa.3,p.K254fs|ENST00000529992,p.K263fs|uc010oud.2,p.K263fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc010oud.2	frameshift deletion	exon5	c.787delA	p.K263fs	LKDVASCIDRCCKATEKRMSGLSEA	LKDVASCIDRCCRPLKSGCLDSQRPCFLLYMSTCFIVKC	5.0	6.0	unscreened	-	4126_1:99164375-99164375 A>-_LKDVASCIDRCCRPLKSGCLDSQRPCFLLYMSTCFIVKC
17:74078669-74078669 G>C	1.0	4126	LUNG	-	-	-	-	ZACN	NM_180990,p.A392P|uc002jqn.2,p.A392P|ENST00000334586,p.A392P	retained_intron, protein_coding, nonsense_mediated_decay	uc002jqn.2	nonsynonymous SNV	exon9	c.G1174C	p.A392P	CTQFVFAGIWMWAACKSDAAPGEAA	CTQFVFAGIWMWPACKSDAAPGEAA	1.0	4.0	-	-	4126_17:74078669-74078669 G>C_CTQFVFAGIWMWPACKSDAAPGEAA
5:139494012-139494012 G>C	1.0	4126	LUNG	-	-	-	-	PURA	ENST00000331327,p.K82N|NM_005859,p.K82N|uc003lfa.3,p.K82N	protein_coding, processed_transcript	uc003lfa.3	nonsynonymous SNV	exon1	c.G246C	p.K82N	NKRFYLDVKQNAKGRFLKIAEVGAG	NKRFYLDVKQNANGRFLKIAEVGAG	8.0	3.0	-	-	4126_5:139494012-139494012 G>C_NKRFYLDVKQNANGRFLKIAEVGAG
5:176964981-176964981 T>C	0.0	4126	LUNG	-	-	-	-	FAM193B	ENST00000443375,p.D81G|ENST00000510479,p.D81G|ENST00000514747,p.D194G|uc003mhu.3,p.D194G|NM_001190946,p.D194G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003mhu.3	nonsynonymous SNV	exon3	c.A581G	p.D194G	SSSSCPGNSGDWDPSSFLSAHKLSG	SSSSCPGNSGDWGPSSFLSAHKLSG	9.0	2.0	unscreened	-	4126_5:176964981-176964981 T>C_SSSSCPGNSGDWGPSSFLSAHKLSG
22:26906159-26906159 G>C	1.0	4126	LUNG	-	-	-	-	TFIP11	uc003acr.2,p.T27S|uc003acs.2,p.T27S|ENST00000440258,p.T27S|ENST00000407690,p.T27S|ENST00000455080,p.T27S|NM_001008697,p.T27S|ENST00000407431,p.T27S|uc003act.2,p.T27S|NM_012143,p.T27S|ENST00000418876,p.T27S|ENST00000405938,p.T27S|ENST00000407148,p.T27S|ENST00000420242,p.T27S	retained_intron, protein_coding, processed_transcript	uc003act.2	nonsynonymous SNV	exon4	c.C80G	p.T27S	DDDDDERENFEITDWDLQNEFNPNR	DDDDDERENFEISDWDLQNEFNPNR	9.0	3.0	-	-	4126_22:26906159-26906159 G>C_DDDDDERENFEISDWDLQNEFNPNR
11:772466-772466 C>G	1.0	4126	LUNG	-	-	-	-	PDDC1	ENST00000442059,p.E87D|uc010qwq.1,p.E51D|ENST00000526325,p.E137D|uc010qwr.1,p.E137D|ENST00000528309,p.E75D|NM_182612,p.E137D|ENST00000354286,p.E101D|ENST00000526650,p.E61D|uc001lrf.1,p.E101D|uc001lrd.3,p.E137D|uc001lrc.3,p.E137D|uc010qws.1,p.E87D|uc009ycg.3,p.E87D|ENST00000397472,p.E137D|ENST00000319863,p.E137D|uc010qwp.1,p.E101D|uc010qwm.2,p.E87D|uc021qbo.1,p.E87D|ENST00000524550,p.E101D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qbo.1	nonsynonymous SNV	exon4	c.G261C	p.E87D	GHGVAALCCATNEDRSWVFDSYSLT	GHGVAALCCATNDDRSWVFDSYSLT	7.0	2.0	-	-	4126_11:772466-772466 C>G_GHGVAALCCATNDDRSWVFDSYSLT
12:57569858-57569858 G>T	0.0	4126	LUNG	-	-	ID=COSM549300;OCCURENCE=1(lung)	-	LRP1	uc001snd.3,p.K1320N|ENST00000243077,p.K1320N|NM_002332,p.K1320N	retained_intron, protein_coding, processed_transcript	uc001snd.3	nonsynonymous SNV	exon24	c.G3960T	p.K1320N	QSALYWTDVVEDKIYRGKLLDNGAL	QSALYWTDVVEDNIYRGKLLDNGAL	8.0	9.0	unscreened	-	4126_12:57569858-57569858 G>T_QSALYWTDVVEDNIYRGKLLDNGAL
16:1391303-1391303 G>T	0.0	4126	LUNG	-	-	-	-	BAIAP3	NM_003933,p.D217Y|ENST00000397488,p.D199Y|uc021tag.1,p.D159Y|uc002clj.3,p.D199Y|uc010uva.2,p.D154Y|ENST00000426824,p.D182Y|NM_001199097,p.D182Y|NM_001286464,p.D199Y|ENST00000397489,p.D199Y|uc010uuz.2,p.D182Y|ENST00000562208,p.D159Y|ENST00000324385,p.D217Y|ENST00000568887,p.D154Y|uc010uvc.1,p.D182Y|uc010uvb.2,p.D234Y|NM_001199099,p.D154Y|NM_001199096,p.D182Y|ENST00000421665,p.D182Y|NM_001199098,p.D159Y|uc002clk.2,p.D217Y	retained_intron, protein_coding, processed_transcript	uc021tag.1	nonsynonymous SNV	exon8	c.G475T	p.D159Y	KNLLAKDPNGFSDPYCMLGILPASD	KNLLAKDPNGFSYPYCMLGILPASD	6.0	6.0	-	-	4126_16:1391303-1391303 G>T_KNLLAKDPNGFSYPYCMLGILPASD
9:100616449-100616449 G>A	0.0	4126	LUNG	-	-	-	-	FOXE1	NM_004473,p.E85K|uc004axu.3,p.E85K|ENST00000375123,p.E85K	protein_coding	uc004axu.3	nonsynonymous SNV	exon1	c.G253A	p.E85K	RLTLGGIYKFITERFPFYRDNPKKW	RLTLGGIYKFITKRFPFYRDNPKKW	2.0	10.0	unscreened	-	4126_9:100616449-100616449 G>A_RLTLGGIYKFITKRFPFYRDNPKKW
3:173993147-173993147 G>T	0.0	4126	LUNG	-	-	-	-	NLGN1	uc010hww.1,p.G270V|ENST00000457714,p.G230V|ENST00000361589,p.G230V|NM_014932,p.G230V|uc003fip.1,p.G230V|ENST00000415045,p.G270V|uc021xhm.1,p.G270V|ENST00000401917,p.G270V|uc003fio.1,p.G230V|ENST00000545397,p.G230V	protein_coding, processed_transcript	uc021xhm.1	nonsynonymous SNV	exon5	c.G809T	p.G270V	LSTGDQAAKGNYGLLDLIQALRWTS	LSTGDQAAKGNYVLLDLIQALRWTS	1.0	4.0	unscreened	-	4126_3:173993147-173993147 G>T_LSTGDQAAKGNYVLLDLIQALRWTS
12:29920871-29920871 G>A	0.0	4126	LUNG	-	-	ID=COSM1268187;OCCURENCE=1(oesophagus)	-	TMTC1	ENST00000552618,p.T147M|ENST00000539277,p.T147M|uc021qwi.1,p.T147M|NM_001193451,p.T147M|ENST00000256062,p.T39M|ENST00000551659,p.T147M|uc001rjb.3,p.T39M|ENST00000381224,p.T39M|uc001rjc.1,p.T39M|NM_175861,p.T39M	retained_intron, protein_coding, processed_transcript	uc021qwi.1	nonsynonymous SNV	exon2	c.C440T	p.T147M	KTVFKNRGLAFVTALLFAVHPIHTE	KTVFKNRGLAFVMALLFAVHPIHTE	4.0	10.0	unscreened	-	4126_12:29920871-29920871 G>A_KTVFKNRGLAFVMALLFAVHPIHTE
1:247587341-247587341 C>A	0.0	4126	LUNG	-	-	-	-	NLRP3	ENST00000336119,p.P199H|uc001icw.3,p.P199H|uc001icu.3,p.P199H|ENST00000391827,p.P199H|NM_001127462,p.P199H|ENST00000366496,p.P199H|NM_001243133,p.P197H|uc010pyw.2,p.P197H|uc001ict.1,p.P197H|NM_001079821,p.P199H|ENST00000391828,p.P199H|NM_004895,p.P199H|NM_183395,p.P199H|uc001icv.3,p.P199H|ENST00000366497,p.P199H|ENST00000348069,p.P199H|uc001icr.3,p.P199H|uc001ics.3,p.P199H|NM_001127461,p.P199H	protein_coding, processed_transcript	uc010pyw.2	nonsynonymous SNV	exon3	c.C590A	p.P197H	LLAIGKTKTCESPVSPIKMELLFDP	LLAIGKTKTCESHVSPIKMELLFDP	5.0	1.0	unscreened	-	4126_1:247587341-247587341 C>A_LLAIGKTKTCESHVSPIKMELLFDP
20:62275570-62275570 C>T	0.0	4126	LUNG	-	-	-	-	STMN3	NM_001276310,p.G27R|uc031ruo.1,p.G27R|ENST00000370053,p.G38R|uc002yfr.2,p.G38R|ENST00000540534,p.G27R|NM_015894,p.G38R	protein_coding	uc031ruo.1	nonsynonymous SNV	exon2	c.G79A	p.G27R	YTQPHPNTVYQYGDMEVKQLDKRAS	YTQPHPNTVYQYRDMEVKQLDKRAS	6.0	9.0	unscreened	-	4126_20:62275570-62275570 C>T_YTQPHPNTVYQYRDMEVKQLDKRAS
1:11106649-11106649 G>T	0.0	4126	LUNG	-	-	-	-	MASP2	ENST00000400897,p.P126T|ENST00000400898,p.P126T|uc001aru.3,p.P126T|uc001arv.3,p.P126T|uc001arx.2,p.P126T|NM_006610,p.P126T|NM_139208,p.P126T	retained_intron, protein_coding	uc001arx.2	nonsynonymous SNV	exon3	c.C376A	p.P126T	DITFRSDYSNEKPFTGFEAFYAAED	DITFRSDYSNEKTFTGFEAFYAAED	1.0	10.0	unscreened	-	4126_1:11106649-11106649 G>T_DITFRSDYSNEKTFTGFEAFYAAED
1:11106649-11106649 G>T	0.0	4126	LUNG	-	-	-	-	MASP2	uc001arw.3,p.P126T	retained_intron, protein_coding	uc001arw.3	nonsynonymous SNV	exon3	c.C376A	p.P126T	DITFRSDYSNEKPFTGFEAFYAAEG	DITFRSDYSNEKTFTGFEAFYAAEG	1.0	10.0	unscreened	-	4126_1:11106649-11106649 G>T_DITFRSDYSNEKTFTGFEAFYAAEG
8:1575040-1575040 G>A	0.0	4126	LUNG	-	-	-	-	DLGAP2	uc003wpm.4,p.S446N|uc003wpl.4,p.S446N|NM_001277161,p.S446N|ENST00000421627,p.S446N|NM_004745,p.S446N	retained_intron, protein_coding, processed_transcript	uc003wpm.4	nonsynonymous SNV	exon4	c.G1337A	p.S446N	SYMRAVSTLSQASCVSQVSEAEING	SYMRAVSTLSQANCVSQVSEAEING	6.0	8.0	unscreened	-	4126_8:1575040-1575040 G>A_SYMRAVSTLSQANCVSQVSEAEING
6:33164143-33164143 T>C	0.0	4126	LUNG	-	-	-	-	RXRB	uc011dqu.2,p.Y258C|uc003ode.1,p.Y218C|ENST00000413614,p.Y258C|uc011dqt.2,p.Y354C	retained_intron, protein_coding, nonsense_mediated_decay	uc011dqu.2	nonsynonymous SNV	exon4	c.A773G	p.Y258C	VMGVGGGSLGLFYIPSPSFPLITFL	VMGVGGGSLGLFCIPSPSFPLITFL	7.0	9.0	-	-	4126_6:33164143-33164143 T>C_VMGVGGGSLGLFCIPSPSFPLITFL
9:87475976-87475976 G>T	0.0	4126	LUNG	-	-	-	-	NTRK2	ENST00000304053,p.G473V|uc011lsz.2,p.G473V|ENST00000277120,p.G473V|NM_006180,p.G473V|ENST00000376214,p.G473V|NM_001018065,p.G473V|uc004anz.1,p.G473V	protein_coding	uc011lsz.2	nonsynonymous SNV	exon13	c.G1418T	p.G473V	KFGMKDFSWFGFGKVKSRQGVGPAS	KFGMKDFSWFGFVKVKSRQGVGPAS	2.0	10.0	unscreened	-	4126_9:87475976-87475976 G>T_KFGMKDFSWFGFVKVKSRQGVGPAS
19:39225459-39225459 C>G	0.0	4126	LUNG	-	-	-	-	CAPN12	NM_144691,p.E580Q|ENST00000601953,p.E431Q|ENST00000328867,p.E580Q|uc002ojd.1,p.E580Q	retained_intron, protein_coding, nonsense_mediated_decay	uc002ojd.1	nonsynonymous SNV	exon15	c.G1738C	p.E580Q	ASQLQALLSIALEPARAHTSTPREI	ASQLQALLSIALQPARAHTSTPREI	6.0	1.0	unscreened	-	4126_19:39225459-39225459 C>G_ASQLQALLSIALQPARAHTSTPREI
11:18955931-18955931 C>A	0.0	4126	LUNG	-	-	-	-	MRGPRX1	uc001mpg.3,p.R134L|ENST00000302797,p.R134L|NM_147199,p.R134L	protein_coding, processed_transcript	uc001mpg.3	nonsynonymous SNV	exon1	c.G401T	p.R134L	LSVLWPIWYRCHRPTHLSAVVCVLL	LSVLWPIWYRCHLPTHLSAVVCVLL	1.0	7.0	unscreened	-	4126_11:18955931-18955931 C>A_LSVLWPIWYRCHLPTHLSAVVCVLL
X:151815466-151815466 T>C	0.0	4126	LUNG	-	-	-	-	GABRQ	uc004ffp.1,p.Y122H|NM_018558,p.Y122H|ENST00000370306,p.Y122H	protein_coding	uc004ffp.1	nonsynonymous SNV	exon4	c.T364C	p.Y122H	FHQTWKDSRLAYYETTLNLTLDYRM	FHQTWKDSRLAYHETTLNLTLDYRM	1.0	6.0	unscreened	-	4126_X:151815466-151815466 T>C_FHQTWKDSRLAYHETTLNLTLDYRM
1:11106648-11106648 G>T	0.0	4126	LUNG	-	-	-	-	MASP2	uc001arw.3,p.P126Q	retained_intron, protein_coding	uc001arw.3	nonsynonymous SNV	exon3	c.C377A	p.P126Q	DITFRSDYSNEKPFTGFEAFYAAEG	DITFRSDYSNEKQFTGFEAFYAAEG	1.0	10.0	unscreened	-	4126_1:11106648-11106648 G>T_DITFRSDYSNEKQFTGFEAFYAAEG
8:6302198-6302198 G>A	0.0	4126	LUNG	-	-	-	-	MCPH1	uc003wqh.3,p.A319T|NM_024596,p.A319T|uc011kwl.2,p.A271T|uc003wqi.3,p.A319T|NM_001172574,p.A319T|ENST00000519480,p.A319T|ENST00000344683,p.A319T|ENST00000522905,p.A271T|NM_001172575,p.A271T	protein_coding, processed_transcript	uc011kwl.2	nonsynonymous SNV	exon7	c.G811A	p.A271T	AGKVVTPDQKQAAGMSQETFEEKYR	AGKVVTPDQKQATGMSQETFEEKYR	7.0	6.0	-	-	4126_8:6302198-6302198 G>A_AGKVVTPDQKQATGMSQETFEEKYR
16:76350316-76350316 G>T	0.0	4126	LUNG	-	-	ID=COSM559061,COSM559060,COSM559059;OCCURENCE=1(lung)	-	CNTNAP4	ENST00000476707,p.C34F|uc002fex.1,p.C34F	retained_intron, protein_coding, processed_transcript, TEC	uc002fex.1	nonsynonymous SNV	exon1	c.G101T	p.C34F	NPNVALFLLADDCDDPLVSALPQAS	NPNVALFLLADDFDDPLVSALPQAS	4.0	3.0	unscreened	-	4126_16:76350316-76350316 G>T_NPNVALFLLADDFDDPLVSALPQAS
1:11106648-11106648 G>T	0.0	4126	LUNG	-	-	-	-	MASP2	uc001arv.3,p.P126Q|uc001arx.2,p.P126Q|uc001aru.3,p.P126Q|NM_006610,p.P126Q|ENST00000400898,p.P126Q|NM_139208,p.P126Q|ENST00000400897,p.P126Q	retained_intron, protein_coding	uc001arx.2	nonsynonymous SNV	exon3	c.C377A	p.P126Q	DITFRSDYSNEKPFTGFEAFYAAED	DITFRSDYSNEKQFTGFEAFYAAED	1.0	10.0	unscreened	-	4126_1:11106648-11106648 G>T_DITFRSDYSNEKQFTGFEAFYAAED
1:17413106-17413106 C>A	0.0	4126	LUNG	-	-	-	-	PADI2	uc010ocm.2,p.C167F|ENST00000444885,p.C167F	protein_coding, processed_transcript	uc010ocm.2	nonsynonymous SNV	exon5	c.G500T	p.C167F	TMWSSTRVAPRSCCSSWKASVSPTR	TMWSSTRVAPRSFCSSWKASVSPTR	5.0	8.0	unscreened	-	4126_1:17413106-17413106 C>A_TMWSSTRVAPRSFCSSWKASVSPTR
17:7906613-7906613 G>T	0.0	4126	LUNG	-	-	-	-	GUCY2D	NM_000180,p.R83L|uc002gjt.2,p.R83L|ENST00000254854,p.R83L	retained_intron, protein_coding	uc002gjt.2	nonsynonymous SNV	exon2	c.G248T	p.R83L	ARPDLAARLAAARLNRDPGLAGGPR	ARPDLAARLAAALLNRDPGLAGGPR	1.0	9.0	unscreened	-	4126_17:7906613-7906613 G>T_ARPDLAARLAAALLNRDPGLAGGPR
8:143566081-143566081 G>T	0.0	4126	LUNG	-	-	-	-	BAI1	ENST00000517894,p.R755L|uc003ywm.3,p.R755L|ENST00000323289,p.R755L|ENST00000521208,p.R755L|NM_001702,p.R755L	retained_intron, protein_coding, nonsense_mediated_decay	uc003ywm.3	nonsynonymous SNV	exon12	c.G2264T	p.R755L	RLVEDFVDVIGFRMKDLRDAYQVTD	RLVEDFVDVIGFLMKDLRDAYQVTD	1.0	7.0	unscreened	-	4126_8:143566081-143566081 G>T_RLVEDFVDVIGFLMKDLRDAYQVTD
1:151314819-151314819 A>C	0.0	4126	LUNG	-	-	-	-	RFX5	NM_000449,p.V565G|ENST00000452513,p.V525G|uc010pcx.1,p.V525G|ENST00000452671,p.V565G|uc001exv.1,p.V565G|NM_001025603,p.V565G|ENST00000368870,p.V565G|ENST00000392746,p.V565G|uc001exw.1,p.V565G|ENST00000290524,p.V565G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010pcx.1	nonsynonymous SNV	exon10	c.T1574G	p.V525G	EAEDKIPLVPSKVSVIKGSRSQKEA	EAEDKIPLVPSKGSVIKGSRSQKEA	8.0	1.0	unscreened	-	4126_1:151314819-151314819 A>C_EAEDKIPLVPSKGSVIKGSRSQKEA
18:21343449-21343449 G>T	0.0	4126	LUNG	-	-	-	-	LAMA3	NM_001127717,p.G382C|uc010dlv.2,p.G382C|uc002kuq.3,p.G382C|uc002kur.3,p.G382C|ENST00000399516,p.G382C|ENST00000313654,p.G382C|ENST00000585600,p.G382C|NM_198129,p.G382C	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc010dlv.2	nonsynonymous SNV	exon8	c.G1144T	p.G382C	DVERQQASLNTQGIYAGGGVCINCQ	DVERQQASLNTQCIYAGGGVCINCQ	10.0	9.0	unscreened	-	4126_18:21343449-21343449 G>T_DVERQQASLNTQCIYAGGGVCINCQ
3:120764302-120764302 T>G	0.0	4126	LUNG	-	-	-	-	STXBP5L	ENST00000273666,p.S130R|ENST00000497029,p.S130R|ENST00000492541,p.S130R|uc011bji.2,p.S130R|ENST00000471454,p.S130R|NM_014980,p.S130R|ENST00000471262,p.S130R|ENST00000472879,p.S130R|uc003eec.4,p.S130R	protein_coding, nonsense_mediated_decay	uc011bji.2	nonsynonymous SNV	exon5	c.T390G	p.S130R	QFLINEGALVSASSDDTLHLWNLRQ	QFLINEGALVSARSDDTLHLWNLRQ	1.0	2.0	unscreened	-	4126_3:120764302-120764302 T>G_QFLINEGALVSARSDDTLHLWNLRQ
18:48255915-48255915 G>T	0.0	4126	LUNG	-	-	-	-	MAPK4	ENST00000400384,p.E485D|uc010xdm.2,p.E274D|NM_002747,p.E485D|NM_001292039,p.E274D|ENST00000540640,p.E274D|uc002lev.3,p.E485D	protein_coding, processed_transcript	uc010xdm.2	nonsynonymous SNV	exon5	c.G822T	p.E274D	ATGLADTGAREDEPASLFLEIAQWV	ATGLADTGAREDDPASLFLEIAQWV	8.0	8.0	unscreened	-	4126_18:48255915-48255915 G>T_ATGLADTGAREDDPASLFLEIAQWV
11:55927532-55927532 C>T	0.0	4126	LUNG	-	-	-	-	OR8K5	NM_001004058,p.D88N|uc010rja.2,p.D88N|ENST00000313447,p.D88N	protein_coding	uc010rja.2	nonsynonymous SNV	exon1	c.G262A	p.D88N	VICPKVLANFVVDRNTISYYACAAQ	VICPKVLANFVVNRNTISYYACAAQ	1.0	5.0	unscreened	-	4126_11:55927532-55927532 C>T_VICPKVLANFVVNRNTISYYACAAQ
20:896727-896727 C>A	0.0	4126	LUNG	-	-	-	-	ANGPT4	uc010zpn.2,p.S38I|ENST00000381922,p.S44I|NM_015985,p.S44I|uc002wei.3,p.S44I|ENST00000546022,p.S44I	protein_coding	uc010zpn.2	nonsynonymous SNV	exon1	c.G113T	p.S38I	GCETLVVQHGHCSYTFLLPKSEPCP	GCETLVVQHGHCIYTFLLPKSEPCP	1.0	6.0	unscreened	-	4126_20:896727-896727 C>A_GCETLVVQHGHCIYTFLLPKSEPCP
20:3650282-3650282 G>A	0.0	4126	LUNG	-	-	-	-	ADAM33	uc002wiq.1,p.P42L	protein_coding, processed_transcript	uc002wiq.1	nonsynonymous SNV	exon1	c.C125T	p.P42L	VPTSWTLITLLSPKDGPHRDHPLGG	VPTSWTLITLLSLKDGPHRDHPLGG	1.0	10.0	unscreened	-	4126_20:3650282-3650282 G>A_VPTSWTLITLLSLKDGPHRDHPLGG
16:7383072-7383072 C>A	0.0	4126	LUNG	-	-	-	-	RBFOX1	uc002cyw.2,p.L24I|ENST00000311745,p.L24I|uc002cyy.2,p.L24I|ENST00000355637,p.L24I|NM_145893,p.L24I|uc002cyx.2,p.L24I|NM_145891,p.L24I|ENST00000436368,p.L24I|uc010uyc.1,p.L24I|NM_145892,p.L24I	retained_intron, protein_coding, processed_transcript	uc010uyc.1	nonsynonymous SNV	exon1	c.C70A	p.L24I	YGVPMIVPAAPYLPGLIQGNQEAAA	YGVPMIVPAAPYIPGLIQGNQEAAA	1.0	5.0	unscreened	-	4126_16:7383072-7383072 C>A_YGVPMIVPAAPYIPGLIQGNQEAAA
12:58131815-58131815 C>T	0.0	4126	LUNG	-	-	-	-	AGAP2	uc001spq.3,p.R72Q|uc001spp.3,p.R72Q|NM_001122772,p.R72Q|ENST00000547588,p.R72Q	protein_coding	uc001spq.3	nonsynonymous SNV	exon1	c.G215A	p.R72Q	EPGKKRHERLFHRQDALWISTSSAG	EPGKKRHERLFHQQDALWISTSSAG	6.0	10.0	-	-	4126_12:58131815-58131815 C>T_EPGKKRHERLFHQQDALWISTSSAG
19:19372347-19372347 G>T	0.0	4126	LUNG	-	-	-	-	HAPLN4	ENST00000291481,p.P10H|NM_023002,p.P10H|uc002nmb.3,p.P10H|uc002nmc.3,p.P10H	retained_intron, protein_coding	uc002nmc.3	nonsynonymous SNV	exon9	c.C29A	p.P10H	MVCARAALGPGALWAAAWGVLL	MVCARAALGHGALWAAAWGVLL	1.0	9.0	unscreened	-	4126_19:19372347-19372347 G>T_MVCARAALGHGALWAAAWGVLL
14:80328041-80328041 G>T	0.0	4126	LUNG	-	-	-	-	NRXN3	ENST00000428277,p.G372W|NM_001272020,p.G550W|uc001xur.5,p.G345W|NM_001105250,p.G372W|ENST00000557594,p.G550W|uc001xuq.3,p.G550W|uc010asw.4,p.G372W|uc001xun.4,p.G974W|ENST00000554719,p.G974W|ENST00000281127,p.G345W|ENST00000335750,p.G974W|NM_138970,p.G345W|NM_004796,p.G974W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010asw.4	nonsynonymous SNV	exon7	c.G1114T	p.G372W	ANPTEPGIRRVPGASEVIRESSSTT	ANPTEPGIRRVPWASEVIRESSSTT	2.0	9.0	-	-	4126_14:80328041-80328041 G>T_ANPTEPGIRRVPWASEVIRESSSTT
6:43411697-43411697 G>T	1.0	4126	LUNG	-	-	-	-	ABCC10	uc003ouz.1,p.V787L|ENST00000372530,p.V815L|NM_001198934,p.V815L|NM_033450,p.V787L|ENST00000244533,p.V787L|uc003ouy.1,p.V815L	retained_intron, protein_coding, processed_transcript	uc003ouz.1	nonsynonymous SNV	exon9	c.G2359T	p.V787L	IRAGPPSEILPLVQAVPKAWAENGQ	IRAGPPSEILPLLQAVPKAWAENGQ	7.0	8.0	-	-	4126_6:43411697-43411697 G>T_IRAGPPSEILPLLQAVPKAWAENGQ
6:40399733-40399733 C>T	0.0	4126	LUNG	-	-	-	-	LRFN2	NM_020737,p.V374I|ENST00000338305,p.V374I|uc003oph.1,p.V374I	protein_coding	uc003oph.1	nonsynonymous SNV	exon2	c.G1120A	p.V374I	ANAAGEATAMVEVSIVQLPHLSNST	ANAAGEATAMVEISIVQLPHLSNST	1.0	2.0	unscreened	-	4126_6:40399733-40399733 C>T_ANAAGEATAMVEISIVQLPHLSNST
2:173352859-173352859 C>G	1.0	4126	LUNG	-	-	-	-	ITGA6	uc002uhp.1,p.A803G|ENST00000416789,p.A28G|ENST00000343713,p.A798G|NM_000210,p.A803G|ENST00000409080,p.A803G|uc010zdy.1,p.A684G|ENST00000264106,p.A842G|NM_001079818,p.A803G|ENST00000458358,p.A798G|uc010fqm.1,p.A449G|ENST00000409532,p.A684G|uc002uho.1,p.A803G|ENST00000375221,p.A842G|ENST00000442250,p.A842G|ENST00000264107,p.A803G	retained_intron, protein_coding	uc010zdy.1	nonsynonymous SNV	exon19	c.C2051G	p.A684G	VVIELLLSVSGVAKPSQVYFGGTVV	VVIELLLSVSGVGKPSQVYFGGTVV	7.0	6.0	-	-	4126_2:173352859-173352859 C>G_VVIELLLSVSGVGKPSQVYFGGTVV
12:57397402-57397402 C>A	0.0	4126	LUNG	-	-	-	-	ZBTB39	uc001sml.2,p.D434Y|uc021qzg.1,p.D434Y|NM_014830,p.D434Y|ENST00000300101,p.D434Y	protein_coding	uc021qzg.1	nonsynonymous SNV	exon1	c.G1300T	p.D434Y	GIFENNIIVHPNDPLPGKLGLFSGA	GIFENNIIVHPNYPLPGKLGLFSGA	3.0	3.0	unscreened	-	4126_12:57397402-57397402 C>A_GIFENNIIVHPNYPLPGKLGLFSGA
4:62897288-62897288 G>T	0.0	4126	LUNG	-	-	-	-	LPHN3	uc003hcq.4,p.G1116V|ENST00000507625,p.G1175V|ENST00000507164,p.G1175V|ENST00000514591,p.G1116V|ENST00000508946,p.G1116V|ENST00000506720,p.G1184V|ENST00000506700,p.G1107V|ENST00000511324,p.G1175V|ENST00000508693,p.G1184V|uc010ihh.3,p.G1116V|ENST00000506746,p.G1175V|ENST00000514996,p.G1107V|uc003hct.3,p.G500V|ENST00000514157,p.G1107V|NM_015236,p.G1116V|ENST00000545650,p.G1116V|ENST00000512091,p.G1116V|ENST00000509896,p.G1184V|ENST00000504896,p.G1116V	retained_intron, protein_coding, processed_transcript	uc010ihh.3	nonsynonymous SNV	exon20	c.G3347T	p.G1116V	MAYLFTIFNSLQGMFIFIFHCVLQK	MAYLFTIFNSLQVMFIFIFHCVLQK	1.0	2.0	unscreened	-	4126_4:62897288-62897288 G>T_MAYLFTIFNSLQVMFIFIFHCVLQK
3:3182332-3182332 G>T	0.0	4126	LUNG	-	-	-	-	TRNT1	ENST00000434583,p.G161C|ENST00000251607,p.G161C|ENST00000280591,p.G161C|uc003bpp.4,p.G161C|NM_182916,p.G161C|uc010hbv.3,p.G161C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hbv.3	nonsynonymous SNV	exon4	c.G481T	p.G161C	ERRDLTINSMFLGFDGTLFDYFNGY	ERRDLTINSMFLCFDGTLFDYFNGY	7.0	1.0	unscreened	-	4126_3:3182332-3182332 G>T_ERRDLTINSMFLCFDGTLFDYFNGY
1:53543450-53543450 G>T	0.0	4126	LUNG	-	-	-	-	PODN	ENST00000395871,p.G184C|uc001cuw.3,p.G307C|uc010onr.2,p.G307C|NM_001199080,p.G307C|ENST00000312553,p.G326C|NM_001199081,p.G307C|uc010ons.2,p.G184C|uc001cuv.3,p.G326C|NM_001199082,p.G184C|ENST00000371500,p.G307C|NM_153703,p.G326C	protein_coding, processed_transcript	uc010ons.2	nonsynonymous SNV	exon3	c.G550T	p.G184C	ELYLQNNYLTDEGLDNETFWKLSSL	ELYLQNNYLTDECLDNETFWKLSSL	6.0	6.0	unscreened	-	4126_1:53543450-53543450 G>T_ELYLQNNYLTDECLDNETFWKLSSL
6:130505724-130505724 C>A	0.0	4126	LUNG	-	-	-	-	SAMD3	uc003qbz.1,p.W102L|ENST00000532309,p.W142L|uc003qbw.4,p.W143L|ENST00000437477,p.W143L|uc003qbx.4,p.W143L|NM_001017373,p.W143L|uc003qby.4,p.W143L|uc031spp.1,p.W167L|ENST00000529723,p.W140L|ENST00000457563,p.W167L|ENST00000368134,p.W143L|ENST00000324172,p.W143L|NM_001258275,p.W143L|ENST00000532763,p.W141L|ENST00000439090,p.W143L|NM_001277185,p.W167L|ENST00000531544,p.W143L|uc010kfg.2,p.W143L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031spp.1	nonsynonymous SNV	exon5	c.G500T	p.W167L	VKQILARSKALQWTKSYVLPEFPYD	VKQILARSKALQLTKSYVLPEFPYD	3.0	8.0	unscreened	-	4126_6:130505724-130505724 C>A_VKQILARSKALQLTKSYVLPEFPYD
2:27324742-27324753 CACTATCAAGAT>-	0.0	4126	LUNG	-	-	-	-	CGREF1	NM_001166239,p.116_119del|uc010eyr.2,p.238_241del|uc021vfa.1,p.116_119del|ENST00000452318,p.20_23del|ENST00000312734,p.116_119del|NM_006569,p.116_119del|ENST00000405600,p.116_119del|uc002rir.2,p.116_119del|uc010ylf.2,p.20_23del|uc002riq.3,p.116_119del|ENST00000404694,p.238_241del|ENST00000260595,p.116_119del|uc010eys.2,p.116_119del|ENST00000402394,p.116_119del	retained_intron, protein_coding, nonsense_mediated_decay	uc021vfa.1	nonframeshift deletion	exon6	c.346_357del	p.116_119del	PGAANSPTTNPVILIVDKVLETQDL	PGAANSPTTNPVDKVLETQDLNGDG	7.0	5.0	unscreened	-	4126_2:27324742-27324753 CACTATCAAGAT>-_PGAANSPTTNPVDKVLETQDLNGDG
1:5965828-5965828 C>G	0.0	4126	LUNG	-	-	-	-	NPHP4	NM_001291593,p.E30Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	NM_001291593	nonsynonymous SNV	exon11	c.G88C	p.E30Q	GNHPRPLREFPLEAGISHLEADLSQ	GNHPRPLREFPLQAGISHLEADLSQ	4.0	9.0	unscreened	-	4126_1:5965828-5965828 C>G_GNHPRPLREFPLQAGISHLEADLSQ
15:73615897-73615897 G>A	0.0	4126	LUNG	-	-	ID=COSM140070;OCCURENCE=1(urinary_tract),1(skin)	-	HCN4	NM_005477,p.P846L|uc002avp.3,p.P846L|ENST00000261917,p.P846L	protein_coding	uc002avp.3	nonsynonymous SNV	exon8	c.C2537T	p.P846L	PSALGSASPASSPSQVDTPSSSSFH	PSALGSASPASSLSQVDTPSSSSFH	1.0	1.0	unscreened	-	4126_15:73615897-73615897 G>A_PSALGSASPASSLSQVDTPSSSSFH
17:4458569-4458569 C>A	0.0	4126	LUNG	-	-	-	-	MYBBP1A	NM_014520,p.Q17H|ENST00000254718,p.Q17H|uc002fxz.4,p.Q17H|NM_001105538,p.Q17H|ENST00000381556,p.Q17H|uc002fyb.4,p.Q17H	retained_intron, protein_coding	uc002fyb.4	nonsynonymous SNV	exon1	c.G51T	p.Q17H	DPAQPMSPGEATQSGARPADRYGLL	DPAQPMSPGEATHSGARPADRYGLL	10.0	7.0	-	-	4126_17:4458569-4458569 C>A_DPAQPMSPGEATHSGARPADRYGLL
17:11737983-11737983 C>A	0.0	4126	LUNG	-	-	ID=COSM1520068;OCCURENCE=1(lung)	-	DNAH9	uc010coo.3,p.A2386D|ENST00000454412,p.A3092D|uc002gne.3,p.A3092D|ENST00000262442,p.A3092D|NM_001372,p.A3092D	retained_intron, protein_coding, processed_transcript	uc010coo.3	nonsynonymous SNV	exon37	c.C7157A	p.A2386D	SAQVDDLKAKLAAQEVELKQKNEDA	SAQVDDLKAKLADQEVELKQKNEDA	1.0	2.0	unscreened	-	4126_17:11737983-11737983 C>A_SAQVDDLKAKLADQEVELKQKNEDA
3:124377299-124377299 G>T	0.0	4126	LUNG	-	-	-	-	KALRN	ENST00000360013,p.V2019L|uc003ehg.3,p.V2019L|ENST00000428018,p.V290L|uc003ehk.3,p.V322L|NM_001024660,p.V2019L|uc011bjz.2,p.V111L|NM_007064,p.V322L|ENST00000393496,p.V360L|ENST00000459915,p.V111L|uc003ehi.3,p.V360L|ENST00000291478,p.V322L	retained_intron, protein_coding, processed_transcript	uc011bjz.2	nonsynonymous SNV	exon6	c.G331T	p.V111L	LFIKHERKLHIYVWYCQNKPRSEYI	LFIKHERKLHIYLWYCQNKPRSEYI	4.0	7.0	unscreened	-	4126_3:124377299-124377299 G>T_LFIKHERKLHIYLWYCQNKPRSEYI
16:29907051-29907051 A>-	0.0	4126	LUNG	-	-	-	-	SEZ6L2	uc002dup.4,p.I144fs|NM_201575,p.I214fs|uc002duq.4,p.I214fs|uc010vec.2,p.I214fs|NM_001243333,p.I170fs|uc002dur.4,p.I144fs|ENST00000350527,p.I144fs|NM_001243332,p.I214fs|uc010ved.2,p.I170fs|ENST00000537485,p.I170fs|NM_012410,p.I144fs|ENST00000308713,p.I214fs|NM_001114099,p.I144fs	retained_intron, protein_coding, processed_transcript	uc010ved.2	frameshift deletion	exon3	c.510delT	p.I170fs	CTYSIHVYPGYGIEIQVQTLNLSQE	CTYSIHVYPGYGMRSRCRR	8.0	8.0	-	-	4126_16:29907051-29907051 A>-_CTYSIHVYPGYGMRSRCRR
10:105205229-105205229 A>G	1.0	4126	LUNG	-	-	-	-	PDCD11	ENST00000369797,p.T1847A|NM_014976,p.T1847A|uc001kwy.1,p.T1847A	protein_coding, processed_transcript	uc001kwy.1	nonsynonymous SNV	exon36	c.A5539G	p.T1847A	FKRYLDYEKQHGTEKDVQAVKAKAL	FKRYLDYEKQHGAEKDVQAVKAKAL	8.0	5.0	-	-	4126_10:105205229-105205229 A>G_FKRYLDYEKQHGAEKDVQAVKAKAL
13:67802410-67802410 C>A	0.0	4126	LUNG	-	-	-	-	PCDH9	uc010thl.2,p.A55S|ENST00000544246,p.A55S|uc001vik.3,p.A55S|uc001vil.3,p.A55S|ENST00000456367,p.A55S|ENST00000377861,p.A55S|NM_020403,p.A55S|uc001vin.3,p.A55S|ENST00000377865,p.A55S|ENST00000328454,p.A55S|NM_203487,p.A55S	protein_coding	uc010thl.2	nonsynonymous SNV	exon2	c.G163T	p.A55S	IPKDLNISHINAATGTSASLVYRLV	IPKDLNISHINASTGTSASLVYRLV	2.0	1.0	unscreened	-	4126_13:67802410-67802410 C>A_IPKDLNISHINASTGTSASLVYRLV
5:68716162-68716162 G>T	0.0	4126	LUNG	-	-	-	-	MARVELD2	NM_001038603,p.R317L|ENST00000512803,p.R317L|NM_001244734,p.R317L|uc010ixf.3,p.R317L|uc003jwq.3,p.R317L|ENST00000325631,p.R317L|ENST00000454295,p.R317L	protein_coding	uc010ixf.3	nonsynonymous SNV	exon2	c.G950T	p.R317L	MAAAIVYVNDTNRGGLCYYPLFNTP	MAAAIVYVNDTNLGGLCYYPLFNTP	7.0	8.0	-	-	4126_5:68716162-68716162 G>T_MAAAIVYVNDTNLGGLCYYPLFNTP
11:5510722-5510722 C>A	0.0	4126	LUNG	-	-	-	-	OR52D1	NM_001005163,p.F262L|ENST00000322641,p.F262L|uc010qzg.2,p.F262L	protein_coding	uc010qzg.2	nonsynonymous SNV	exon1	c.C786A	p.F262L	IILVFYIPAFFSFLTHRFGHHEVPK	IILVFYIPAFFSLLTHRFGHHEVPK	1.0	4.0	unscreened	-	4126_11:5510722-5510722 C>A_IILVFYIPAFFSLLTHRFGHHEVPK
2:142567933-142567933 G>T	0.0	4126	LUNG	-	-	-	1	LRP1B	NM_018557,p.H40Q|ENST00000434794,p.H40Q|uc010fnl.1,p.H77Q|ENST00000389484,p.H40Q|uc002tvj.1,p.H40Q	protein_coding, processed_transcript	uc010fnl.1	nonsynonymous SNV	exon2	c.C231A	p.H77Q	DQQLCDPGEFLCHDHVTCVSQSWLC	DQQLCDPGEFLCQDHVTCVSQSWLC	1.0	2.0	unscreened	-	4126_2:142567933-142567933 G>T_DQQLCDPGEFLCQDHVTCVSQSWLC
3:122287960-122287960 A>T	0.0	4126	LUNG	-	-	-	-	DTX3L	ENST00000296161,p.T342S|uc021xdb.1,p.T178S|NM_138287,p.T342S|uc003efk.3,p.T342S	protein_coding	uc021xdb.1	nonsynonymous SNV	exon1	c.A532T	p.T178S	TKLLIKEKGGELTLLGTQDDISAAK	TKLLIKEKGGELSLLGTQDDISAAK	8.0	6.0	-	-	4126_3:122287960-122287960 A>T_TKLLIKEKGGELSLLGTQDDISAAK
1:5965828-5965828 C>G	0.0	4126	LUNG	-	-	-	-	NPHP4	uc001alt.3,p.E31Q|NM_001291594,p.E31Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001alt.3	nonsynonymous SNV	exon10	c.G91C	p.E31Q	NHPRPLRQEFPLEAGISHLEADLSQ	NHPRPLRQEFPLQAGISHLEADLSQ	4.0	9.0	unscreened	-	4126_1:5965828-5965828 C>G_NHPRPLRQEFPLQAGISHLEADLSQ
20:47632838-47632838 A>C	0.0	4126	LUNG	-	-	-	-	ARFGEF2	NM_006420,p.T1401P|uc002xtx.4,p.T1401P|ENST00000371917,p.T1401P|uc010zyf.2,p.T694P	protein_coding, processed_transcript	uc010zyf.2	nonsynonymous SNV	exon17	c.A2080C	p.T694P	EQLSEKSEWMTTTCNHALYAICDVF	EQLSEKSEWMTTPCNHALYAICDVF	5.0	1.0	-	-	4126_20:47632838-47632838 A>C_EQLSEKSEWMTTPCNHALYAICDVF
4:145573938-145573938 ->C	0.0	4126	LUNG	-	-	-	-	HHIP	uc003ijs.2,p.G154fs|ENST00000296575,p.G154fs|uc003ijr.2,p.G154fs|NM_022475,p.G154fs|ENST00000434550,p.G154fs	retained_intron, protein_coding, processed_transcript	uc003ijs.2	frameshift insertion	exon2	c.462dupC	p.G154fs	KDYCKEFFYTCRGHIPGFLQTTADE	KDYCKEFFYTCRGPYSRFPSNNCG	1.0	1.0	unscreened	-	4126_4:145573938-145573938 ->C_KDYCKEFFYTCRGPYSRFPSNNCG
11:55658989-55658989 G>T	0.0	4126	LUNG	-	-	-	-	TRIM51	ENST00000449290,p.D414Y|NM_032681,p.D414Y|uc010rip.2,p.D414Y|ENST00000244891,p.D271Y|uc010riq.2,p.D271Y	protein_coding	uc010riq.2	nonsynonymous SNV	exon5	c.G811T	p.D271Y	VPRPTSTVGLFLDCEGRTVSFVDVD	VPRPTSTVGLFLYCEGRTVSFVDVD	1.0	4.0	unscreened	-	4126_11:55658989-55658989 G>T_VPRPTSTVGLFLYCEGRTVSFVDVD
4:5642293-5642293 T>A	0.0	4126	LUNG	-	-	-	-	EVC2	ENST00000509670,p.E393V|ENST00000310917,p.E393V|NM_147127,p.E473V|NM_001166136,p.E393V|uc003gik.3,p.E393V|uc003gij.3,p.E473V|ENST00000344938,p.E473V|ENST00000344408,p.E473V|ENST00000475313,p.E393V	protein_coding, nonsense_mediated_decay	uc003gik.3	nonsynonymous SNV	exon10	c.A1178T	p.E393V	ETRKKMENQYQREMMAMEEAEELLK	ETRKKMENQYQRVMMAMEEAEELLK	5.0	1.0	unscreened	-	4126_4:5642293-5642293 T>A_ETRKKMENQYQRVMMAMEEAEELLK
4:113539801-113539801 C>A	0.0	4126	LUNG	-	-	ID=COSM731935;OCCURENCE=1(lung)	-	ZGRF1	uc003iaw.3,p.G466V|ENST00000309071,p.G466V|ENST00000473015,p.G466V|ENST00000445203,p.G435V|ENST00000505019,p.G466V|NM_018392,p.G466V|uc003iau.3,p.G466V	retained_intron, protein_coding, nonsense_mediated_decay	uc003iaw.3	nonsynonymous SNV	exon6	c.G1397T	p.G466V	LIKENAQEVNTCGTLEKEYEQSESS	LIKENAQEVNTCVTLEKEYEQSESS	4.0	5.0	-	-	4126_4:113539801-113539801 C>A_LIKENAQEVNTCVTLEKEYEQSESS
1:5965828-5965828 C>G	0.0	4126	LUNG	-	-	-	-	NPHP4	ENST00000489180,p.E542Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000489180	nonsynonymous SNV	exon14	c.G1624C	p.E542Q	SQASPAQAEFPLEAGISHLEADLSQ	SQASPAQAEFPLQAGISHLEADLSQ	4.0	9.0	unscreened	-	4126_1:5965828-5965828 C>G_SQASPAQAEFPLQAGISHLEADLSQ
5:32724825-32724825 G>T	0.0	4126	LUNG	-	-	-	-	NPR3	ENST00000265074,p.S264I|uc003jhv.3,p.S264I|uc003jhu.3,p.S264I|NM_000908,p.S264I|ENST00000415167,p.S264I|NM_001204375,p.S264I	retained_intron, protein_coding	uc003jhv.3	nonsynonymous SNV	exon2	c.G791T	p.S264I	QASERVVIMCASSDTIRSIMLVAHR	QASERVVIMCASIDTIRSIMLVAHR	5.0	7.0	unscreened	-	4126_5:32724825-32724825 G>T_QASERVVIMCASIDTIRSIMLVAHR
5:32724825-32724825 G>T	0.0	4126	LUNG	-	-	-	-	NPR3	ENST00000509104,p.S41I	retained_intron, protein_coding	ENST00000509104	nonsynonymous SNV	exon2	c.G122T	p.S41I	CSIGLVVIMCASSDTIRSIMLVAHR	CSIGLVVIMCASIDTIRSIMLVAHR	5.0	7.0	unscreened	-	4126_5:32724825-32724825 G>T_CSIGLVVIMCASIDTIRSIMLVAHR
5:32724825-32724825 G>T	0.0	4126	LUNG	-	-	-	-	NPR3	uc003jhw.2,p.S48I|ENST00000415685,p.S48I|uc010iuo.3,p.S48I|NM_001204376,p.S48I|ENST00000434067,p.S48I	retained_intron, protein_coding	uc010iuo.3	nonsynonymous SNV	exon2	c.G143T	p.S48I	GQNEKVVIMCASSDTIRSIMLVAHR	GQNEKVVIMCASIDTIRSIMLVAHR	5.0	7.0	unscreened	-	4126_5:32724825-32724825 G>T_GQNEKVVIMCASIDTIRSIMLVAHR
11:49053280-49053280 G>T	0.0	4126	LUNG	-	-	-	-	TRIM49B	uc021qix.1,p.W43C|ENST00000332682,p.W43C|NM_001206626,p.W43C	protein_coding	uc021qix.1	nonsynonymous SNV	exon1	c.G129T	p.W43C	GHSFCRPCFYLNWKDSPFLVQCSEC	GHSFCRPCFYLNCKDSPFLVQCSEC	1.0	9.0	unscreened	-	4126_11:49053280-49053280 G>T_GHSFCRPCFYLNCKDSPFLVQCSEC
1:43891609-43891609 G>T	0.0	4126	LUNG	-	-	-	-	SZT2	ENST00000372442,p.R131M|ENST00000562955,p.R973M|uc001cjk.3,p.R973M|uc009vws.1,p.R973M|NM_015284,p.R973M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009vws.1	nonsynonymous SNV	exon20	c.G2918T	p.R973M	QSKEWGPLPPEPRVSDGLDQGGDTC	QSKEWGPLPPEPMVSDGLDQGGDTC	6.0	8.0	unscreened	-	4126_1:43891609-43891609 G>T_QSKEWGPLPPEPMVSDGLDQGGDTC
1:5965828-5965828 C>G	0.0	4126	LUNG	-	-	-	-	NPHP4	NM_015102,p.E543Q|ENST00000378156,p.E543Q|uc001alq.2,p.E543Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001alq.2	nonsynonymous SNV	exon14	c.G1627C	p.E543Q	QASPAQAQEFPLEAGISHLEADLSQ	QASPAQAQEFPLQAGISHLEADLSQ	4.0	9.0	unscreened	-	4126_1:5965828-5965828 C>G_QASPAQAQEFPLQAGISHLEADLSQ
1:242451664-242451664 C>A	0.0	4126	LUNG	-	-	-	-	PLD5	ENST00000427495,p.Q103H|uc001hzn.2,p.Q165H|ENST00000459864,p.Q103H|ENST00000442594,p.Q73H|NM_152666,p.Q165H|uc001hzo.2,p.Q73H|ENST00000467561,p.Q165H|ENST00000536534,p.Q165H|NM_001195811,p.Q103H|uc001hzl.4,p.Q103H	protein_coding, processed_transcript, nonsense_mediated_decay	uc001hzo.2	nonsynonymous SNV	exon4	c.G219T	p.Q73H	HWDLNHTHPSACQGQRLFEKLLQLT	HWDLNHTHPSACHGQRLFEKLLQLT	1.0	8.0	unscreened	-	4126_1:242451664-242451664 C>A_HWDLNHTHPSACHGQRLFEKLLQLT
1:207039923-207039923 G>C	0.0	4126	LUNG	-	-	-	-	IL20	ENST00000391930,p.R107P|ENST00000367096,p.R107P|uc009xby.3,p.R107P|ENST00000367098,p.R107P|uc001her.3,p.R107P|NM_018724,p.R107P	protein_coding	uc009xby.3	nonsynonymous SNV	exon3	c.G320C	p.R107P	FKNYQTPDHYTLRKISSLANSFLTI	FKNYQTPDHYTLPKISSLANSFLTI	1.0	9.0	unscreened	-	4126_1:207039923-207039923 G>C_FKNYQTPDHYTLPKISSLANSFLTI
5:127680176-127680176 C>A	0.0	4126	LUNG	-	-	-	-	FBN2	ENST00000262464,p.G1082W|uc003kuv.2,p.G1049W|NM_001999,p.G1082W|ENST00000508053,p.G1082W|ENST00000508989,p.G1049W|uc003kuu.3,p.G1082W	retained_intron, protein_coding, processed_transcript	uc003kuv.2	nonsynonymous SNV	exon24	c.G3145T	p.G1049W	FYKDINECKAFPGMCTYGKCRNTIG	FYKDINECKAFPWMCTYGKCRNTIG	1.0	7.0	unscreened	-	4126_5:127680176-127680176 C>A_FYKDINECKAFPWMCTYGKCRNTIG
11:100126533-100126533 ->C	0.0	4126	LUNG	-	-	-	-	CNTN5	ENST00000528682,p.T683fs|ENST00000418526,p.T609fs|NM_014361,p.T683fs|uc001pfz.3,p.T683fs|NM_175566,p.T609fs|ENST00000279463,p.T683fs|NM_001243271,p.T683fs|uc021qpc.1,p.T609fs|ENST00000527185,p.T683fs|NM_001243270,p.T683fs|uc001pga.3,p.T683fs|ENST00000524871,p.T683fs|uc021qpb.1,p.T683fs	retained_intron, protein_coding, processed_transcript	uc021qpc.1	frameshift insertion	exon14	c.1826dupC	p.T609fs	PGPPGIVIVEEITESTATLSWSPAA	PGPPGIVIVEEITRKYGHTVLEPSS	2.0	3.0	unscreened	-	4126_11:100126533-100126533 ->C_PGPPGIVIVEEITRKYGHTVLEPSS
15:28096572-28096572 G>T	0.0	4126	LUNG	-	-	-	-	OCA2	NM_001300984,p.A741E|ENST00000354638,p.A765E|NM_000275,p.A765E|ENST00000353809,p.A741E|uc001zbh.4,p.A765E|uc010ayv.3,p.A741E	protein_coding, processed_transcript	uc010ayv.3	nonsynonymous SNV	exon21	c.C2222A	p.A741E	LNLSHDPEVGLPAPPLMYALAFGAC	LNLSHDPEVGLPEPPLMYALAFGAC	1.0	2.0	unscreened	-	4126_15:28096572-28096572 G>T_LNLSHDPEVGLPEPPLMYALAFGAC
4:96070045-96070045 G>T	0.0	4126	LUNG	-	-	-	-	BMPR1B	ENST00000264568,p.W408L|ENST00000394931,p.W408L|NM_001256792,p.W408L|uc031sgn.1,p.W438L|NM_001203,p.W408L|uc003htn.4,p.W408L|NM_001256793,p.W438L|ENST00000440890,p.W438L|uc010ilb.3,p.W408L|ENST00000509540,p.W408L|uc003htm.4,p.W408L|ENST00000515059,p.W408L|ENST00000512312,p.W408L|NM_001256794,p.W408L|uc031sgm.1,p.W408L	protein_coding	uc031sgn.1	nonsynonymous SNV	exon9	c.G1313T	p.W438L	IMADMYSFGLILWEVARRCVSGGIV	IMADMYSFGLILLEVARRCVSGGIV	3.0	4.0	-	-	4126_4:96070045-96070045 G>T_IMADMYSFGLILLEVARRCVSGGIV
4:123207698-123207698 G>T	0.0	4126	LUNG	-	-	-	-	KIAA1109	ENST00000455637,p.A3014S|NM_015312,p.A3014S|ENST00000264501,p.A3014S|uc003iel.1,p.A949S|ENST00000388738,p.A3014S|uc003ieh.3,p.A3014S	retained_intron, protein_coding, processed_transcript	uc003iel.1	nonsynonymous SNV	exon15	c.G2845T	p.A949S	KMGRMRSHGMTGAQTRFTFELPNHR	KMGRMRSHGMTGSQTRFTFELPNHR	5.0	6.0	unscreened	-	4126_4:123207698-123207698 G>T_KMGRMRSHGMTGSQTRFTFELPNHR
1:66081767-66081767 G>T	0.0	4126	LUNG	-	-	-	-	LEPR	NM_001198689,p.W691L|uc001dch.3,p.W691L|ENST00000371060,p.W691L|NM_001003680,p.W691L|uc001dcj.3,p.W691L|uc001dci.3,p.W691L|uc021ool.1,p.W691L|uc001dcg.3,p.W691L|NM_001003679,p.W691L|NM_001198687,p.W691L|NM_001198688,p.W691L|uc001dck.3,p.W691L|ENST00000371059,p.W691L|ENST00000371058,p.W691L|ENST00000349533,p.W691L|ENST00000344610,p.W691L|NM_002303,p.W691L	protein_coding, processed_transcript	uc021ool.1	nonsynonymous SNV	exon14	c.G2072T	p.W691L	YVINHHTSCNGTWSEDVGNHTKFTF	YVINHHTSCNGTLSEDVGNHTKFTF	3.0	8.0	unscreened	-	4126_1:66081767-66081767 G>T_YVINHHTSCNGTLSEDVGNHTKFTF
8:30703802-30703802 T>A	0.0	4126	LUNG	-	-	-	-	TEX15	uc003xil.3,p.E911V|ENST00000256246,p.E911V|NM_031271,p.E911V	protein_coding, processed_transcript	uc003xil.3	nonsynonymous SNV	exon1	c.A2732T	p.E911V	SKTDYNDTKNKKEVESRISKRKLHI	SKTDYNDTKNKKVVESRISKRKLHI	2.0	4.0	unscreened	-	4126_8:30703802-30703802 T>A_SKTDYNDTKNKKVVESRISKRKLHI
1:247588503-247588503 G>T	0.0	4126	LUNG	-	-	-	-	NLRP3	NM_001079821,p.Q586H|uc001icw.3,p.Q586H|ENST00000348069,p.Q586H|NM_001243133,p.Q584H|NM_001127462,p.Q586H|uc001icr.3,p.Q586H|uc001ict.1,p.Q584H|ENST00000336119,p.Q586H|uc001ics.3,p.Q586H|NM_183395,p.Q586H|ENST00000391828,p.Q586H|NM_004895,p.Q586H|NM_001127461,p.Q586H|ENST00000366497,p.Q586H|uc010pyw.2,p.Q584H|ENST00000366496,p.Q586H|uc001icu.3,p.Q586H|uc001icv.3,p.Q586H|ENST00000391827,p.Q586H	protein_coding, processed_transcript	uc010pyw.2	nonsynonymous SNV	exon3	c.G1752T	p.Q584H	IFVVRFLFGLVNQERTSYLEKKLSC	IFVVRFLFGLVNHERTSYLEKKLSC	5.0	9.0	-	-	4126_1:247588503-247588503 G>T_IFVVRFLFGLVNHERTSYLEKKLSC
2:96993335-96993335 C>A	0.0	4126	LUNG	-	-	-	-	ITPRIPL1	uc010yul.2,p.F314L|uc002svy.3,p.F330L|ENST00000361124,p.F330L|NM_001008949,p.F322L|ENST00000536814,p.F314L|NM_178495,p.F330L|NM_001163523,p.F314L|ENST00000439118,p.F322L|NM_001163524,p.F314L|ENST00000542887,p.F314L|uc010yuk.2,p.F314L|uc002svx.3,p.F322L	protein_coding	uc010yul.2	nonsynonymous SNV	exon2	c.C942A	p.F314L	GFHLDVCKTVQWFRNMMGNAWALVA	GFHLDVCKTVQWLRNMMGNAWALVA	3.0	6.0	-	-	4126_2:96993335-96993335 C>A_GFHLDVCKTVQWLRNMMGNAWALVA
11:119213709-119213709 A>T	0.0	4126	LUNG	-	-	-	-	MFRP	ENST00000530681,p.C377S|ENST00000449574,p.C377S|ENST00000555262,p.C377S|NM_031433,p.C377S	nonsense_mediated_decay, protein_coding, processed_transcript,retained_intron	NM_031433	nonsynonymous SNV	exon10	c.T1129A	p.C377S	SSSGAFSLLGRFCGAEPPPHLVSSH	SSSGAFSLLGRFSGAEPPPHLVSSH	1.0	10.0	unscreened	-	4126_11:119213709-119213709 A>T_SSSGAFSLLGRFSGAEPPPHLVSSH
13:72255984-72255984 G>A	0.0	4126	LUNG	-	-	-	-	DACH1	uc021rkk.1,p.H305Y|uc021rkj.1,p.H305Y|ENST00000359684,p.H305Y|ENST00000313174,p.H305Y|ENST00000354591,p.H305Y|uc021rkl.1,p.H305Y|ENST00000305425,p.H305Y	protein_coding	uc021rkl.1	nonsynonymous SNV	exon2	c.C913T	p.H305Y	KRTQSVTSPENSHIMPHSVPGLMSP	KRTQSVTSPENSYIMPHSVPGLMSP	1.0	4.0	-	-	4126_13:72255984-72255984 G>A_KRTQSVTSPENSYIMPHSVPGLMSP
17:73999370-73999370 C>T	1.0	4126	LUNG	-	-	-	-	CDK3	uc010dgt.3,p.P228L|NM_001258,p.P228L|ENST00000448471,p.P228L|ENST00000425876,p.P228L|ENST00000586261,p.P188L	protein_coding	uc010dgt.3	nonsynonymous SNV	exon7	c.C683T	p.P228L	FRMLGTPSEDTWPGVTQLPDYKGSF	FRMLGTPSEDTWLGVTQLPDYKGSF	6.0	5.0	-	-	4126_17:73999370-73999370 C>T_FRMLGTPSEDTWLGVTQLPDYKGSF
3:45817335-45817335 T>G	0.0	4126	LUNG	-	-	-	-	SLC6A20	ENST00000358525,p.Q167P|uc011baj.2,p.Q167P|NM_020208,p.Q167P|NM_022405,p.Q167P|ENST00000456124,p.Q167P|ENST00000353278,p.Q167P|ENST00000413781,p.Q120P|uc011bai.2,p.Q167P	retained_intron, protein_coding, processed_transcript	uc011baj.2	nonsynonymous SNV	exon4	c.A500C	p.Q167P	NISPSLQENGGVQWEPALCLLLAWL	NISPSLQENGGVPWEPALCLLLAWL	1.0	2.0	unscreened	-	4126_3:45817335-45817335 T>G_NISPSLQENGGVPWEPALCLLLAWL
2:197711869-197711869 C>A	0.0	4126	LUNG	-	-	-	-	PGAP1	NM_024989,p.V670F|uc002utw.3,p.V670F|ENST00000354764,p.V670F|uc002utx.3,p.V496F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002utx.3	nonsynonymous SNV	exon23	c.G1486T	p.V496F	LWDVLLLPELDAVILTCQSMCFPLI	LWDVLLLPELDAFILTCQSMCFPLI	2.0	6.0	-	-	4126_2:197711869-197711869 C>A_LWDVLLLPELDAFILTCQSMCFPLI
2:202057750-202057750 T>C	0.0	4126	LUNG	-	-	-	-	CASP10	ENST00000286186,p.I162T|NM_032977,p.I162T|uc010ftb.2,p.I162T|ENST00000313728,p.I162T|NM_001206542,p.I162T|uc002uxm.2,p.I162T|ENST00000448480,p.I162T|ENST00000272879,p.I162T|uc002uxj.1,p.I162T|uc010fta.1,p.I162T|uc002uxk.1,p.I162T|uc002uxi.1,p.I162T|NM_032974,p.I162T|NM_001230,p.I162T|NM_001206524,p.I162T|ENST00000346817,p.I162T|ENST00000374650,p.I162T|NM_032976,p.I162T|uc002uxl.2,p.I162T|ENST00000360132,p.I162T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ftb.2	nonsynonymous SNV	exon4	c.T485C	p.I162T	LSFLAFLEKQGKIDEDNLTCLEDLC	LSFLAFLEKQGKTDEDNLTCLEDLC	6.0	9.0	-	-	4126_2:202057750-202057750 T>C_LSFLAFLEKQGKTDEDNLTCLEDLC
15:25959146-25959146 C>A	0.0	4126	LUNG	-	-	-	-	ATP10A	NM_024490,p.Q673H|uc010ayu.3,p.Q673H|ENST00000356865,p.Q673H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ayu.3	nonsynonymous SNV	exon10	c.G2019T	p.Q673H	PTSAIASNGYSSQADNWASELAQEQ	PTSAIASNGYSSHADNWASELAQEQ	5.0	7.0	-	-	4126_15:25959146-25959146 C>A_PTSAIASNGYSSHADNWASELAQEQ
13:108861761-108861761 C>A	0.0	4126	LUNG	-	-	-	-	LIG4	NM_002312,p.G619V|ENST00000405925,p.G619V|ENST00000442234,p.G619V|uc021rmk.1,p.G619V|NM_206937,p.G619V|ENST00000356922,p.G619V|NM_001098268,p.G619V|uc001vqp.3,p.G619V|uc010agf.3,p.G619V|uc001vqo.3,p.G619V|uc001vqn.3,p.G619V|uc010agg.1,p.G552V	protein_coding	uc021rmk.1	nonsynonymous SNV	exon1	c.G1856T	p.G619V	SGKLASKHLYIGGDDEPQEKKRKAA	SGKLASKHLYIGVDDEPQEKKRKAA	4.0	2.0	-	-	4126_13:108861761-108861761 C>A_SGKLASKHLYIGVDDEPQEKKRKAA
1:34677899-34677899 C>G	0.0	4126	LUNG	-	-	-	-	C1orf94	uc001bxt.3,p.P538R|NM_032884,p.P348R|ENST00000373374,p.P348R|NM_001134734,p.P538R|uc001bxs.4,p.P348R|ENST00000488417,p.P538R	protein_coding	uc001bxt.3	nonsynonymous SNV	exon6	c.C1613G	p.P538R	YTPLLSYIPFVQPNYPYPQRTPPKM	YTPLLSYIPFVQRNYPYPQRTPPKM	1.0	2.0	unscreened	-	4126_1:34677899-34677899 C>G_YTPLLSYIPFVQRNYPYPQRTPPKM
1:224505430-224505430 C>A	1.0	4126	LUNG	-	-	-	-	NVL	uc010pvd.2,p.A84S|uc001hok.3,p.A84S|ENST00000467882,p.A84S|ENST00000281701,p.A84S|NM_001243147,p.A84S|ENST00000469075,p.A84S|ENST00000488718,p.A84S|NM_002533,p.A84S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010pvd.2	nonsynonymous SNV	exon4	c.G250T	p.A84S	LKNLTELEDEHLAKRARQGEEDNEY	LKNLTELEDEHLSKRARQGEEDNEY	8.0	9.0	-	-	4126_1:224505430-224505430 C>A_LKNLTELEDEHLSKRARQGEEDNEY
1:224505430-224505430 C>A	1.0	4126	LUNG	-	-	-	-	NVL	uc010pvg.2,p.A84S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010pvg.2	nonsynonymous SNV	exon4	c.G250T	p.A84S	LKNLTELEDEHLAKRARQGEEDNEQ	LKNLTELEDEHLSKRARQGEEDNEQ	8.0	9.0	-	-	4126_1:224505430-224505430 C>A_LKNLTELEDEHLSKRARQGEEDNEQ
1:224505430-224505430 C>A	1.0	4126	LUNG	-	-	-	-	NVL	ENST00000461546,p.A84S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000461546	nonsynonymous SNV	exon4	c.G250T	p.A84S	LKNLTELEDEHLAKRARQGEEDNDV	LKNLTELEDEHLSKRARQGEEDNDV	8.0	9.0	-	-	4126_1:224505430-224505430 C>A_LKNLTELEDEHLSKRARQGEEDNDV
12:5154371-5154371 C>A	0.0	4126	LUNG	-	-	-	-	KCNA5	ENST00000252321,p.S353Y|uc001qni.4,p.S353Y|NM_002234,p.S353Y	protein_coding	uc001qni.4	nonsynonymous SNV	exon1	c.C1058A	p.S353Y	VRFFACPSKAGFSRNIMNIIDVVAI	VRFFACPSKAGFYRNIMNIIDVVAI	1.0	2.0	unscreened	-	4126_12:5154371-5154371 C>A_VRFFACPSKAGFYRNIMNIIDVVAI
11:55873095-55873095 T>G	0.0	4126	LUNG	-	rs61745886	-	-	OR8H2	ENST00000313503,p.Y193D|NM_001005200,p.Y193D|uc010riy.2,p.Y193D	protein_coding	uc010riy.2	nonsynonymous SNV	exon1	c.T577G	p.Y193D	TSPILALSCTDTYNTEILIFIIVGS	TSPILALSCTDTDNTEILIFIIVGS	1.0	2.0	unscreened	-	4126_11:55873095-55873095 T>G_TSPILALSCTDTDNTEILIFIIVGS
2:69204646-69204646 T>C	0.0	4126	LUNG	-	-	-	-	GKN1	ENST00000377938,p.L25P|uc002sfc.3,p.L25P|NM_019617,p.L25P	retained_intron, protein_coding	uc002sfc.3	nonsynonymous SNV	exon2	c.T74C	p.L25P	DKMKFTIVFAGLLGVFLAPALANYN	DKMKFTIVFAGLPGVFLAPALANYN	1.0	4.0	unscreened	-	4126_2:69204646-69204646 T>C_DKMKFTIVFAGLPGVFLAPALANYN
2:29240790-29240790 G>T	0.0	4126	LUNG	-	-	-	-	FAM179A	uc010ezl.3,p.R443L|NM_199280,p.R443L|ENST00000379558,p.R443L	retained_intron, protein_coding, processed_transcript	uc010ezl.3	nonsynonymous SNV	exon10	c.G1328T	p.R443L	ASRASLPSIPISRQEPRFARHASAN	ASRASLPSIPISLQEPRFARHASAN	3.0	6.0	unscreened	-	4126_2:29240790-29240790 G>T_ASRASLPSIPISLQEPRFARHASAN
15:86312840-86312840 T>C	0.0	4126	LUNG	-	-	-	-	KLHL25	NM_022480,p.S68G|uc002bly.3,p.S68G|ENST00000337975,p.S68G|ENST00000536947,p.S68G|uc021stw.1,p.S68G	protein_coding, processed_transcript	uc021stw.1	nonsynonymous SNV	exon1	c.A202G	p.S68G	AFPCHRAVLAASSRYFEAMFSHGLR	AFPCHRAVLAASGRYFEAMFSHGLR	4.0	6.0	-	-	4126_15:86312840-86312840 T>C_AFPCHRAVLAASGRYFEAMFSHGLR
19:54802582-54802582 C>G	0.0	4126	LUNG	-	-	-	-	LILRA3	uc002qfd.3,p.V287L|ENST00000391745,p.V304L|uc010erk.3,p.V223L|ENST00000251390,p.V287L|NM_001172654,p.V223L|NM_006865,p.V287L|ENST00000391744,p.V223L	protein_coding	uc010erk.3	nonsynonymous SNV	exon5	c.G667C	p.V223L	AGLSQANFTLGPVSRSYGGQYTCSG	AGLSQANFTLGPLSRSYGGQYTCSG	5.0	10.0	unscreened	-	4126_19:54802582-54802582 C>G_AGLSQANFTLGPLSRSYGGQYTCSG
7:6590856-6590856 C>A	0.0	4126	LUNG	-	-	-	-	GRID2IP	ENST00000457091,p.R71L|uc011jwx.2,p.R71L|NM_001145118,p.R71L	protein_coding	uc011jwx.2	nonsynonymous SNV	exon1	c.G212T	p.R71L	GLSRERLVRLARRCPRVPPSLGVLP	GLSRERLVRLARLCPRVPPSLGVLP	1.0	4.0	unscreened	-	4126_7:6590856-6590856 C>A_GLSRERLVRLARLCPRVPPSLGVLP
15:49030904-49030904 C>G	0.0	4126	LUNG	-	-	-	-	CEP152	NM_001194998,p.E1559Q|ENST00000399334,p.E1503Q|uc001zwy.3,p.E1503Q|uc001zwz.3,p.E1559Q|NM_014985,p.E1503Q|ENST00000380950,p.E1559Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay	uc001zwz.3	nonsynonymous SNV	exon27	c.G4675C	p.E1559Q	AASEKSQGLDVQEPPVKDGGDLSDC	AASEKSQGLDVQQPPVKDGGDLSDC	6.0	6.0	-	-	4126_15:49030904-49030904 C>G_AASEKSQGLDVQQPPVKDGGDLSDC
8:135649922-135649922 G>A	0.0	4126	LUNG	-	-	-	-	ZFAT	ENST00000522257,p.P15L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000522257	nonsynonymous SNV	exon2	c.C44T	p.P15L	REFLVMKRKRGRPKGSTKKSSTEEE	REFLVMKRKRGRLKGSTKKSSTEEE	7.0	6.0	unscreened	-	4126_8:135649922-135649922 G>A_REFLVMKRKRGRLKGSTKKSSTEEE
8:135649922-135649922 G>A	0.0	4126	LUNG	-	-	-	-	ZFAT	ENST00000520727,p.P65L|NM_001289394,p.P65L|ENST00000523243,p.P77L|uc003yur.3,p.P65L|ENST00000520356,p.P65L|uc010mej.3,p.P77L|ENST00000520214,p.P65L|NM_001174158,p.P65L|uc003yup.3,p.P77L|NM_001029939,p.P65L|uc003yun.3,p.P65L|NM_020863,p.P77L|ENST00000429442,p.P65L|NM_001174157,p.P77L|ENST00000523399,p.P77L|uc010meh.3,p.P65L|ENST00000377838,p.P77L|uc003yuq.3,p.P65L|NM_001167583,p.P65L|ENST00000518191,p.P65L|uc003yuo.3,p.P65L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010mej.3	nonsynonymous SNV	exon3	c.C230T	p.P77L	DEFLVMKRKRGRPKGSTKKSSTEEE	DEFLVMKRKRGRLKGSTKKSSTEEE	7.0	6.0	unscreened	-	4126_8:135649922-135649922 G>A_DEFLVMKRKRGRLKGSTKKSSTEEE
3:129389762-129389762 C>G	0.0	4126	LUNG	-	-	-	-	TMCC1	uc011blc.2,p.E129Q|uc021xdy.1,p.E308Q|ENST00000393238,p.E308Q|ENST00000426664,p.E194Q|ENST00000329333,p.E129Q|uc010htg.3,p.E194Q|NM_001128224,p.E194Q|NM_001017395,p.E308Q	retained_intron, protein_coding, processed_transcript	uc021xdy.1	nonsynonymous SNV	exon4	c.G922C	p.E308Q	QKKLEHYHRKLREVEQNGIPRQPKD	QKKLEHYHRKLRQVEQNGIPRQPKD	7.0	1.0	unscreened	-	4126_3:129389762-129389762 C>G_QKKLEHYHRKLRQVEQNGIPRQPKD
5:128368897-128368897 G>T	0.0	4126	LUNG	-	-	-	-	SLC27A6	ENST00000506176,p.M594I|uc003kuy.3,p.M594I|ENST00000262462,p.M594I|NM_001017372,p.M594I|ENST00000395266,p.M594I|NM_014031,p.M594I|uc003kuz.3,p.M594I	protein_coding	uc003kuz.3	nonsynonymous SNV	exon10	c.G1782T	p.M594I	FNPLKISEPLYFMDNLKKSYVLLTR	FNPLKISEPLYFIDNLKKSYVLLTR	1.0	2.0	unscreened	-	4126_5:128368897-128368897 G>T_FNPLKISEPLYFIDNLKKSYVLLTR
7:100682620-100682620 C>A	0.0	4126	LUNG	-	-	-	-	MUC17	ENST00000379439,p.S2641R|NM_001040105,p.S2641R|ENST00000306151,p.S2641R|uc003uxp.1,p.S2641R	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.C7923A	p.S2641R	SEVSTSLTSILVSTMPVASSEASTL	SEVSTSLTSILVRTMPVASSEASTL	1.0	6.0	unscreened	-	4126_7:100682620-100682620 C>A_SEVSTSLTSILVRTMPVASSEASTL
2:141660648-141660648 G>T	0.0	4126	LUNG	-	-	-	1	LRP1B	uc002tvj.1,p.L1203I|ENST00000434794,p.L348I|uc010fnl.1,p.L385I|NM_018557,p.L1203I|ENST00000389484,p.L1203I	protein_coding, processed_transcript	uc010fnl.1	nonsynonymous SNV	exon8	c.C1153A	p.L385I	PGRGIVCSCPEGLQLNKDNKTCEIV	PGRGIVCSCPEGIQLNKDNKTCEIV	1.0	5.0	unscreened	-	4126_2:141660648-141660648 G>T_PGRGIVCSCPEGIQLNKDNKTCEIV
5:140175543-140175543 G>A	0.0	4126	LUNG	-	-	-	-	PCDHA2	NM_031495,p.G332R|uc003lhc.1,p.G332R|NM_018905,p.G332R|uc011czy.2,p.G332R|ENST00000520672,p.G332R|NM_031496,p.G332R|ENST00000378132,p.G332R|ENST00000526136,p.G332R|uc003lhd.2,p.G332R	protein_coding	uc011czy.2	nonsynonymous SNV	exon1	c.G994A	p.G332R	VTATDKGTPSMSGHCKISLKLVDIN	VTATDKGTPSMSRHCKISLKLVDIN	1.0	6.0	unscreened	-	4126_5:140175543-140175543 G>A_VTATDKGTPSMSRHCKISLKLVDIN
5:16702652-16702652 C>G	0.0	4126	LUNG	-	-	-	-	MYO10	uc010itx.3,p.Q475H|ENST00000513610,p.Q852H|ENST00000427430,p.Q209H|uc011cne.2,p.Q209H|NM_012334,p.Q852H|ENST00000274203,p.Q209H|uc003jft.4,p.Q852H|uc011cnd.2,p.Q209H|ENST00000505695,p.Q191H|ENST00000515803,p.Q191H	retained_intron, protein_coding, processed_transcript	uc011cne.2	nonsynonymous SNV	exon6	c.G627C	p.Q209H	ERERREAELRAQQEEETRKQQELEA	ERERREAELRAQHEEETRKQQELEA	8.0	1.0	unscreened	-	4126_5:16702652-16702652 C>G_ERERREAELRAQHEEETRKQQELEA
3:190573188-190573188 G>T	0.0	4126	LUNG	-	-	-	-	GMNC	ENST00000442080,p.P301T|uc011bsl.1,p.P301T|NM_001146686,p.P301T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bsl.1	nonsynonymous SNV	exon5	c.C901A	p.P301T	NKTEMAFSTSLSPHCNVKTHSFHQG	NKTEMAFSTSLSTHCNVKTHSFHQG	1.0	5.0	unscreened	-	4126_3:190573188-190573188 G>T_NKTEMAFSTSLSTHCNVKTHSFHQG
20:57781966-57781966 A>C	0.0	4126	LUNG	-	-	-	-	ZNF831	NM_178457,p.K1294N|uc002yan.3,p.K1294N|ENST00000371030,p.K1294N	protein_coding	uc002yan.3	nonsynonymous SNV	exon3	c.A3882C	p.K1294N	KQRKLKINPKRYKGNFLQSCVQLRA	KQRKLKINPKRYNGNFLQSCVQLRA	1.0	9.0	unscreened	-	4126_20:57781966-57781966 A>C_KQRKLKINPKRYNGNFLQSCVQLRA
X:73963985-73963985 C>A	0.0	4126	LUNG	-	-	-	-	KIAA2022	uc004eby.3,p.G136V|NM_001008537,p.G136V|ENST00000373468,p.G136V|ENST00000055682,p.G136V	protein_coding	uc004eby.3	nonsynonymous SNV	exon3	c.G407T	p.G136V	AIMEPAGMSALNGDCLMQPSRTCLG	AIMEPAGMSALNVDCLMQPSRTCLG	1.0	10.0	-	-	4126_X:73963985-73963985 C>A_AIMEPAGMSALNVDCLMQPSRTCLG
17:34199302-34199302 G>T	1.0	4126	LUNG	-	-	-	-	CCL5	NM_001278736,p.P146H	protein_coding	NM_001278736	nonsynonymous SNV	exon4	c.C437A	p.P146H	FLLALVLAWEASPHYPTPPAP	FLLALVLAWEASHHYPTPPAP	10.0	8.0	-	-	4126_17:34199302-34199302 G>T_FLLALVLAWEASHHYPTPPAP
16:21065762-21065762 G>T	0.0	4126	LUNG	-	-	-	-	DNAH3	ENST00000261383,p.L1340I|NM_017539,p.L1340I|ENST00000415178,p.L1340I|uc010vbe.2,p.L1340I	retained_intron, protein_coding, processed_transcript	uc010vbe.2	nonsynonymous SNV	exon28	c.C4018A	p.L1340I	KLSSGARLTLGALTVIDVHARDVVA	KLSSGARLTLGAITVIDVHARDVVA	4.0	3.0	unscreened	-	4126_16:21065762-21065762 G>T_KLSSGARLTLGAITVIDVHARDVVA
11:55873109-55873109 C>G	0.0	4126	LUNG	-	-	-	-	OR8H2	ENST00000313503,p.I197M|uc010riy.2,p.I197M|NM_001005200,p.I197M	protein_coding	uc010riy.2	nonsynonymous SNV	exon1	c.C591G	p.I197M	LALSCTDTYNTEILIFIIVGSTLMV	LALSCTDTYNTEMLIFIIVGSTLMV	1.0	2.0	unscreened	-	4126_11:55873109-55873109 C>G_LALSCTDTYNTEMLIFIIVGSTLMV
17:51900558-51900558 G>T	0.0	4126	LUNG	-	-	-	-	KIF2B	NM_032559,p.W55L|ENST00000268919,p.W55L|uc002iua.2,p.W55L	protein_coding	uc002iua.2	nonsynonymous SNV	exon1	c.G164T	p.W55L	LAVVTEINRENYWVTVEWVEKAVKK	LAVVTEINRENYLVTVEWVEKAVKK	1.0	5.0	unscreened	-	4126_17:51900558-51900558 G>T_LAVVTEINRENYLVTVEWVEKAVKK
6:32190308-32190308 G>T	0.0	4126	LUNG	-	-	-	-	NOTCH4	NM_004557,p.S144Y|ENST00000375023,p.S144Y|uc003obb.3,p.S144Y|uc003obc.3,p.S144Y	retained_intron, protein_coding, processed_transcript	uc003obc.3	nonsynonymous SNV	exon3	c.C431A	p.S144Y	RCHIQASGRPQCSCMPGWTGEQCQL	RCHIQASGRPQCYCMPGWTGEQCQL	6.0	3.0	unscreened	-	4126_6:32190308-32190308 G>T_RCHIQASGRPQCYCMPGWTGEQCQL
2:105473259-105473259 C>A	0.0	4126	LUNG	-	-	-	-	POU3F3	uc010ywg.2,p.P431T|ENST00000361360,p.P431T|NM_006236,p.P431T	protein_coding	uc010ywg.2	nonsynonymous SNV	exon1	c.C1291A	p.P431T	GALESHFLKCPKPSAQEITNLADSL	GALESHFLKCPKTSAQEITNLADSL	1.0	8.0	-	-	4126_2:105473259-105473259 C>A_GALESHFLKCPKTSAQEITNLADSL
X:72433818-72433818 C>A	0.0	4126	LUNG	-	-	-	-	NAP1L2	uc004ebi.3,p.D171Y|ENST00000536638,p.D29Y|NM_021963,p.D171Y|ENST00000373517,p.D171Y	protein_coding	uc004ebi.3	nonsynonymous SNV	exon1	c.G511T	p.D171Y	YEPTEEECEYKSDSEDCDDEEMCHE	YEPTEEECEYKSYSEDCDDEEMCHE	1.0	10.0	-	-	4126_X:72433818-72433818 C>A_YEPTEEECEYKSYSEDCDDEEMCHE
8:85441563-85441563 G>T	0.0	4126	LUNG	-	-	-	-	RALYL	ENST00000517638,p.G16C|NM_001100391,p.G16C|uc003yct.4,p.G16C	retained_intron, protein_coding	uc003yct.4	nonsynonymous SNV	exon2	c.G46T	p.G16C	RRRLKQGEPIMTGKTQTSNVTNKND	RRRLKQGEPIMTCKTQTSNVTNKND	1.0	8.0	unscreened	-	4126_8:85441563-85441563 G>T_RRRLKQGEPIMTCKTQTSNVTNKND
1:158746827-158746827 A>G	0.0	4126	LUNG	-	-	-	-	OR6N2	uc010pir.2,p.F200S|NM_001005278,p.F200S|ENST00000339258,p.F200S	protein_coding	uc010pir.2	nonsynonymous SNV	exon1	c.T599C	p.F200S	ACKDTSANILVDFAINAFIILITFF	ACKDTSANILVDSAINAFIILITFF	1.0	3.0	unscreened	-	4126_1:158746827-158746827 A>G_ACKDTSANILVDSAINAFIILITFF
5:35957317-35957317 C>A	0.0	4126	LUNG	-	-	-	-	UGT3A1	ENST00000503189,p.D350Y|ENST00000507113,p.D316Y|ENST00000274278,p.D350Y|uc011coq.2,p.D350Y|uc011cor.2,p.D316Y|NM_152404,p.D350Y|uc003jjv.2,p.D350Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cor.2	nonsynonymous SNV	exon4	c.G946T	p.D316Y	RDVHLATNVKIVDWLPQSDLLAHPS	RDVHLATNVKIVYWLPQSDLLAHPS	1.0	9.0	unscreened	-	4126_5:35957317-35957317 C>A_RDVHLATNVKIVYWLPQSDLLAHPS
5:156592722-156592722 T>A	0.0	4126	LUNG	-	-	-	-	FAM71B	uc003lwn.3,p.Q153L|ENST00000302938,p.Q153L|NM_130899,p.Q153L	protein_coding	uc003lwn.3	nonsynonymous SNV	exon1	c.A458T	p.Q153L	RLKLATGRTFYLQLCPSSDTREDLF	RLKLATGRTFYLLLCPSSDTREDLF	1.0	7.0	unscreened	-	4126_5:156592722-156592722 T>A_RLKLATGRTFYLLLCPSSDTREDLF
20:3650282-3650282 G>A	0.0	4126	LUNG	-	-	-	-	ADAM33	uc002wiu.3,p.P722L|uc002wir.1,p.P748L|NM_025220,p.P748L|uc002wit.3,p.P748L|NM_001282447,p.P748L|ENST00000350009,p.P722L|NM_153202,p.P722L|ENST00000356518,p.P748L|uc031rsh.1,p.P270L|ENST00000379861,p.P748L|uc002wis.3,p.P244L	protein_coding, processed_transcript	uc031rsh.1	nonsynonymous SNV	exon16	c.C809T	p.P270L	SWGCRRDPACSGPKDGPHRDHPLGG	SWGCRRDPACSGLKDGPHRDHPLGG	1.0	10.0	unscreened	-	4126_20:3650282-3650282 G>A_SWGCRRDPACSGLKDGPHRDHPLGG
2:141946093-141946093 C>A	0.0	4126	LUNG	-	-	ID=COSM1399772;OCCURENCE=2(large_intestine)	1	LRP1B	NM_018557,p.G304C|uc002tvj.1,p.G304C|ENST00000389484,p.G304C	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon7	c.G910T	p.G304C	WLTRNLYFVDHVGDRIFVCNSNGSV	WLTRNLYFVDHVCDRIFVCNSNGSV	1.0	5.0	unscreened	-	4126_2:141946093-141946093 C>A_WLTRNLYFVDHVCDRIFVCNSNGSV
3:111312930-111312930 C>A	0.0	4126	LUNG	-	-	-	-	ZBED2	NM_024508,p.S40I|ENST00000317012,p.S40I|uc003dxy.3,p.S40I|uc021xci.1,p.S40I	protein_coding	uc021xci.1	nonsynonymous SNV	exon1	c.G119T	p.S40I	ISETGELVGPFVSAMPTPMPHNKGT	ISETGELVGPFVIAMPTPMPHNKGT	4.0	5.0	unscreened	-	4126_3:111312930-111312930 C>A_ISETGELVGPFVIAMPTPMPHNKGT
11:55761816-55761816 C>T	0.0	4126	LUNG	-	-	-	-	OR5F1	uc010riv.2,p.G96S|NM_003697,p.G96S|ENST00000278409,p.G96S	protein_coding	uc010riv.2	nonsynonymous SNV	exon1	c.G286A	p.G96S	DLLSEKKTISFAGCFLQMYFFISLA	DLLSEKKTISFASCFLQMYFFISLA	1.0	1.0	unscreened	-	4126_11:55761816-55761816 C>T_DLLSEKKTISFASCFLQMYFFISLA
X:110489882-110489882 C>A	0.0	4126	LUNG	-	-	-	-	CAPN6	ENST00000324068,p.G617C|uc011msu.2,p.G362C|uc004epc.2,p.G617C|ENST00000541758,p.G362C|NM_014289,p.G617C	protein_coding	uc011msu.2	nonsynonymous SNV	exon11	c.G1084T	p.G362C	CRDLKSLYLRKKGGPTAKVKQGHIS	CRDLKSLYLRKKCGPTAKVKQGHIS	1.0	10.0	unscreened	-	4126_X:110489882-110489882 C>A_CRDLKSLYLRKKCGPTAKVKQGHIS
9:90502554-90502554 C>A	0.0	4126	LUNG	-	-	-	-	SPATA31E1	uc004app.4,p.A1051D|ENST00000325643,p.A1051D|NM_178828,p.A1051D	protein_coding	uc004app.4	nonsynonymous SNV	exon4	c.C3152A	p.A1051D	GEKPPTWEVTLGASVRASSGSVQED	GEKPPTWEVTLGDSVRASSGSVQED	1.0	10.0	unscreened	-	4126_9:90502554-90502554 C>A_GEKPPTWEVTLGDSVRASSGSVQED
3:14799099-14799099 A>T	0.0	4126	LUNG	-	-	-	-	C3orf20	NM_001184957,p.Y599F|uc003bzb.1,p.Y222F|uc003byy.3,p.Y721F|uc011avj.2,p.Y48F|ENST00000435614,p.Y599F|NM_032137,p.Y721F|uc003bza.3,p.Y599F|uc003byz.3,p.Y599F|NM_001184958,p.Y599F|ENST00000412910,p.Y599F|ENST00000253697,p.Y721F	protein_coding, processed_transcript	uc011avj.2	nonsynonymous SNV	exon1	c.A143T	p.Y48F	QVLVFGIISSQNYTSTGQLQWLLNT	QVLVFGIISSQNFTSTGQLQWLLNT	1.0	10.0	-	-	4126_3:14799099-14799099 A>T_QVLVFGIISSQNFTSTGQLQWLLNT
17:42477557-42477557 T>C	1.0	4126	LUNG	-	-	-	-	GPATCH8	uc010wiz.2,p.M552V|uc002igw.2,p.M630V|uc002igv.2,p.M552V|ENST00000434000,p.M552V|ENST00000591680,p.M630V|NM_001002909,p.M630V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wiz.2	nonsynonymous SNV	exon9	c.A1654G	p.M552V	GGEKIVRSSGGRMDAPASGSACSGL	GGEKIVRSSGGRVDAPASGSACSGL	6.0	7.0	-	-	4126_17:42477557-42477557 T>C_GGEKIVRSSGGRVDAPASGSACSGL
19:407630-407630 C>A	0.0	4126	LUNG	-	-	-	-	C2CD4C	ENST00000332235,p.Q244H|uc002loo.3,p.Q244H|NM_001136263,p.Q244H|uc021ulv.1,p.Q244H	protein_coding	uc021ulv.1	nonsynonymous SNV	exon1	c.G732T	p.Q244H	LSRSVSLLKGFAQDSQAKVSQLRHS	LSRSVSLLKGFAHDSQAKVSQLRHS	1.0	10.0	unscreened	-	4126_19:407630-407630 C>A_LSRSVSLLKGFAHDSQAKVSQLRHS
20:3233326-3233326 C>A	0.0	4126	LUNG	-	-	-	-	C20orf194	NM_001009984,p.M1142I|uc002wik.2,p.M816I|uc002wij.3,p.M881I|ENST00000252032,p.M1142I|uc002wii.3,p.M1142I	protein_coding, processed_transcript	uc002wik.2	nonsynonymous SNV	exon32	c.G2448T	p.M816I	NFFGDKTDFHPLMDQFMNDYVEEAN	NFFGDKTDFHPLIDQFMNDYVEEAN	4.0	2.0	unscreened	-	4126_20:3233326-3233326 C>A_NFFGDKTDFHPLIDQFMNDYVEEAN
15:100821472-100821472 C>G	0.0	4126	LUNG	-	-	-	-	ADAMTS17	NM_139057,p.E251Q|uc002bvv.1,p.E251Q|ENST00000268070,p.E251Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bvv.1	nonsynonymous SNV	exon4	c.G751C	p.E251Q	VADADMVQYHGAEAAQRFILTVMNM	VADADMVQYHGAQAAQRFILTVMNM	1.0	2.0	unscreened	-	4126_15:100821472-100821472 C>G_VADADMVQYHGAQAAQRFILTVMNM
12:104081982-104081982 C>G	0.0	4126	LUNG	-	-	-	-	STAB2	ENST00000388887,p.R1012G|uc001tjw.3,p.R1012G|NM_017564,p.R1012G	retained_intron, protein_coding, nonsense_mediated_decay	uc001tjw.3	nonsynonymous SNV	exon28	c.C3034G	p.R1012G	ELSFLSEAAIFNRWINNASLQPTLS	ELSFLSEAAIFNGWINNASLQPTLS	1.0	3.0	-	-	4126_12:104081982-104081982 C>G_ELSFLSEAAIFNGWINNASLQPTLS
17:33749122-33749122 C>A	0.0	4126	LUNG	-	-	-	-	SLFN12	NM_018042,p.R309L|ENST00000304905,p.R309L|ENST00000452764,p.R309L|uc002hji.4,p.R309L|uc002hjj.4,p.R309L|ENST00000394562,p.R309L|uc010cts.3,p.R309L|NM_001289009,p.R309L	retained_intron, protein_coding, processed_transcript	uc010cts.3	nonsynonymous SNV	exon2	c.G926T	p.R309L	SLCGYVCALRVERFCCAVFAKEPDS	SLCGYVCALRVELFCCAVFAKEPDS	2.0	6.0	-	-	4126_17:33749122-33749122 C>A_SLCGYVCALRVELFCCAVFAKEPDS
6:90660226-90660226 G>T	0.0	4126	LUNG	-	-	-	-	BACH2	NM_001170794,p.S533R|ENST00000537989,p.S533R|uc010kch.3,p.S533R|uc003pnw.3,p.S533R|ENST00000343122,p.S533R|ENST00000257749,p.S533R|uc011eab.2,p.S533R|NM_021813,p.S533R	protein_coding, processed_transcript	uc011eab.2	nonsynonymous SNV	exon7	c.C1599A	p.S533R	SSCSSYSYAEDGSGGSPCSLPLCEF	SSCSSYSYAEDGRGGSPCSLPLCEF	1.0	1.0	unscreened	-	4126_6:90660226-90660226 G>T_SSCSSYSYAEDGRGGSPCSLPLCEF
10:27702584-27702584 G>T	0.0	4126	LUNG	-	-	-	-	PTCHD3	ENST00000438700,p.A199D|NM_001034842,p.A199D|uc001itu.2,p.A199D	protein_coding	uc001itu.2	nonsynonymous SNV	exon1	c.C596A	p.A199D	GHFTTNDSYRFSASRRSTEANFVSL	GHFTTNDSYRFSDSRRSTEANFVSL	1.0	9.0	unscreened	-	4126_10:27702584-27702584 G>T_GHFTTNDSYRFSDSRRSTEANFVSL
2:216960805-216960805 G>A	0.0	4126	LUNG	-	-	-	-	TMEM169	NM_001142312,p.R40K|uc010zjr.2,p.R40K|uc002vfw.3,p.R40K|ENST00000454545,p.R40K|ENST00000437356,p.R40K|NM_138390,p.R40K|uc002vfv.4,p.R40K|uc010zjs.2,p.R40K|ENST00000406027,p.R40K|NM_001142310,p.R40K|ENST00000455479,p.R40K|ENST00000433112,p.R40K|ENST00000295658,p.R40K|NM_001142311,p.R40K	protein_coding	uc010zjs.2	nonsynonymous SNV	exon2	c.G119A	p.R40K	ALALDGESTMGHRKKKRKESRPESI	ALALDGESTMGHKKKKRKESRPESI	3.0	4.0	unscreened	-	4126_2:216960805-216960805 G>A_ALALDGESTMGHKKKKRKESRPESI
4:114468817-114468817 C>T	0.0	4126	LUNG	-	-	-	-	CAMK2D	ENST00000505990,p.V133I|uc003ibo.4,p.V133I|ENST00000511664,p.V133I	retained_intron, protein_coding, processed_transcript	uc003ibo.4	nonsynonymous SNV	exon6	c.G397A	p.V133I	LEAVLHCHQMGVVHRDLKPENLLLA	LEAVLHCHQMGVIHRDLKPENLLLA	5.0	1.0	unscreened	-	4126_4:114468817-114468817 C>T_LEAVLHCHQMGVIHRDLKPENLLLA
1:109794469-109794476 CTCACTGC>-	0.0	4126	LUNG	-	-	-	-	CELSR2	ENST00000271332,p.L590fs|NM_001408,p.L590fs|uc001dxa.4,p.L590fs	protein_coding, processed_transcript	uc001dxa.4	frameshift deletion	exon1	c.1768_1775del	p.L590fs	FGVEARDHGTPALTASASVSVTVLD	FGVEARDHGTPALGQCQRDCPGCQRQQSNLYPTRVHSAAQ	4.0	4.0	unscreened	-	4126_1:109794469-109794476 CTCACTGC>-_FGVEARDHGTPALGQCQRDCPGCQRQQSNLYPTRVHSAAQ
12:81064221-81064221 G>T	0.0	4126	LUNG	-	-	-	-	PTPRQ	ENST00000266688,p.L2180F	retained_intron, protein_coding, processed_transcript	ENST00000266688	nonsynonymous SNV	exon47	c.G6540T	p.L2180F	PENSAPLIHFVKLVRASRAHDTTPM	PENSAPLIHFVKFVRASRAHDTTPM	1.0	3.0	unscreened	-	4126_12:81064221-81064221 G>T_PENSAPLIHFVKFVRASRAHDTTPM
6:51524410-51524410 C>T	0.0	4126	LUNG	0.0005	-	-	-	PKHD1	NM_138694,p.S3505N|ENST00000371117,p.S3505N|uc003pah.1,p.S3505N	protein_coding	uc003pah.1	nonsynonymous SNV	exon61	c.G10514A	p.S3505N	KLLLAVFYHELQSPHVFLGESFIPP	KLLLAVFYHELQNPHVFLGESFIPP	2.0	3.0	unscreened	-	4126_6:51524410-51524410 C>T_KLLLAVFYHELQNPHVFLGESFIPP
2:168074761-168074761 G>A	0.0	4126	LUNG	0.0037	-	-	-	XIRP2	uc002udx.3,p.R270H|ENST00000409605,p.R48H|ENST00000295237,p.R270H|uc010fpn.3,p.R303H|NM_001199143,p.R303H|uc002udy.3,p.R95H|NM_001079810,p.R270H|ENST00000420519,p.R303H|NM_001199144,p.R48H|NM_152381,p.R270H|NM_001199145,p.R48H|uc010fpo.3,p.R270H|uc010fpq.3,p.R48H|ENST00000409273,p.R48H|ENST00000409043,p.R270H|ENST00000409728,p.R303H|uc010fpr.3,p.R48H|ENST00000409756,p.R270H|ENST00000409195,p.R270H	protein_coding	uc010fpr.3	nonsynonymous SNV	exon3	c.G143A	p.R48H	VKKQFEDEITSSRNTFAQYQYQHQN	VKKQFEDEITSSHNTFAQYQYQHQN	1.0	1.0	unscreened	-	4126_2:168074761-168074761 G>A_VKKQFEDEITSSHNTFAQYQYQHQN
14:58471502-58471502 C>A	0.0	4126	LUNG	-	-	-	-	C14orf37	uc010tro.2,p.M797I|ENST00000267485,p.M759I|uc001xdc.3,p.M759I|NM_001001872,p.M759I	retained_intron, protein_coding, processed_transcript	uc010tro.2	nonsynonymous SNV	exon9	c.G2391T	p.M797I	KRHKRKQREFNSMQDRVMLLADSSE	KRHKRKQREFNSIQDRVMLLADSSE	5.0	2.0	unscreened	-	4126_14:58471502-58471502 C>A_KRHKRKQREFNSIQDRVMLLADSSE
14:58471502-58471502 C>A	0.0	4126	LUNG	-	-	-	-	C14orf37	uc001xdd.3,p.M758I	retained_intron, protein_coding, processed_transcript	uc001xdd.3	nonsynonymous SNV	exon7	c.G2274T	p.M758I	FKRHKRKREFNSMQDRVMLLADSSE	FKRHKRKREFNSIQDRVMLLADSSE	5.0	2.0	unscreened	-	4126_14:58471502-58471502 C>A_FKRHKRKREFNSIQDRVMLLADSSE
8:73848924-73848924 G>C	0.0	4126	LUNG	-	-	-	-	KCNB2	NM_004770,p.R445T|uc003xzb.3,p.R445T|ENST00000523207,p.R445T	protein_coding	uc003xzb.3	nonsynonymous SNV	exon3	c.G1334C	p.R445T	AIKRREALERAKRNGSIVSMNLKDA	AIKRREALERAKTNGSIVSMNLKDA	1.0	6.0	-	-	4126_8:73848924-73848924 G>C_AIKRREALERAKTNGSIVSMNLKDA
8:108264216-108264216 G>T	0.0	4126	LUNG	-	-	-	-	ANGPT1	NM_001146,p.S455Y|uc011lhv.2,p.S255Y|ENST00000517746,p.S455Y|ENST00000297450,p.S454Y|ENST00000520734,p.S255Y|uc003ymn.3,p.S455Y|ENST00000520052,p.S254Y|uc003ymo.3,p.S454Y|NM_001199859,p.S454Y	retained_intron, protein_coding, processed_transcript	uc011lhv.2	nonsynonymous SNV	exon8	c.C764A	p.S255Y	LTGGWWFDACGPSNLNGMFYTAGQN	LTGGWWFDACGPYNLNGMFYTAGQN	2.0	4.0	unscreened	-	4126_8:108264216-108264216 G>T_LTGGWWFDACGPYNLNGMFYTAGQN
4:115773892-115773892 G>T	0.0	4126	LUNG	-	-	-	-	NDST4	ENST00000264363,p.P602Q|ENST00000504854,p.P223Q|uc003ibu.3,p.P602Q|NM_022569,p.P602Q	retained_intron, protein_coding, nonsense_mediated_decay	uc003ibu.3	nonsynonymous SNV	exon8	c.C1805A	p.P602Q	TCDHLPKFLVIGPQKTGTTALYLFL	TCDHLPKFLVIGQQKTGTTALYLFL	1.0	3.0	unscreened	-	4126_4:115773892-115773892 G>T_TCDHLPKFLVIGQQKTGTTALYLFL
1:236908005-236908005 G>T	0.0	4126	LUNG	-	-	-	-	ACTN2	NM_001278343,p.E445D|uc001hyf.2,p.E445D|NM_001103,p.E445D|NM_001278344,p.E237D|uc010pxu.1,p.E134D|ENST00000366578,p.E445D|ENST00000542672,p.E445D|uc001hyg.2,p.E237D|uc009xgi.1,p.E445D	protein_coding, processed_transcript	uc010pxu.1	nonsynonymous SNV	exon5	c.G402T	p.E134D	SLTEVRALLRKHEAFESDLAAHQDR	SLTEVRALLRKHDAFESDLAAHQDR	1.0	1.0	unscreened	-	4126_1:236908005-236908005 G>T_SLTEVRALLRKHDAFESDLAAHQDR
14:47120484-47120484 C>A	0.0	4126	LUNG	-	-	-	-	RPL10L	uc001wwg.3,p.L152F|ENST00000298283,p.L152F|NM_080746,p.L152F	protein_coding	uc001wwg.3	nonsynonymous SNV	exon1	c.G456T	p.L152F	TKLQNEEHVIEALRRAKFKFPGRQK	TKLQNEEHVIEAFRRAKFKFPGRQK	1.0	6.0	unscreened	-	4126_14:47120484-47120484 C>A_TKLQNEEHVIEAFRRAKFKFPGRQK
1:247920997-247920997 C>A	0.0	4126	LUNG	-	-	-	-	OR1C1	ENST00000408896,p.V238F|NM_012353,p.V238F|uc010pza.2,p.V238F	protein_coding	uc010pza.2	nonsynonymous SNV	exon1	c.G712T	p.V238F	LKITSTQGKQRAVSTCSCHLSVVVL	LKITSTQGKQRAFSTCSCHLSVVVL	1.0	1.0	unscreened	-	4126_1:247920997-247920997 C>A_LKITSTQGKQRAFSTCSCHLSVVVL
15:75941807-75941807 G>T	0.0	4126	LUNG	-	-	-	-	SNX33	uc002bau.3,p.D122Y|ENST00000308527,p.D122Y|NM_153271,p.D122Y	protein_coding	uc002bau.3	nonsynonymous SNV	exon1	c.G364T	p.D122Y	EEDDDDDWDDWDDGCTVVEEPRAGG	EEDDDDDWDDWDYGCTVVEEPRAGG	8.0	3.0	unscreened	-	4126_15:75941807-75941807 G>T_EEDDDDDWDDWDYGCTVVEEPRAGG
21:47329332-47329332 G>T	0.0	4126	LUNG	-	-	-	-	PCBP3	ENST00000400309,p.V135L|uc002zhq.2,p.V135L|ENST00000400314,p.V135L|NM_001130141,p.V135L|ENST00000400304,p.V103L|ENST00000400308,p.V135L|uc002zhs.2,p.V135L|uc010gqb.3,p.V135L|ENST00000400305,p.V111L|uc002zhp.2,p.V135L|uc002zht.2,p.V103L|NM_020528,p.V135L|ENST00000400310,p.V135L|uc010gqc.2,p.V135L|ENST00000449640,p.V135L	retained_intron, protein_coding, processed_transcript	uc010gqc.2	nonsynonymous SNV	exon6	c.G403T	p.V135L	PATSKPPVTLRLVVPASQCGSLIGK	PATSKPPVTLRLLVPASQCGSLIGK	1.0	8.0	-	-	4126_21:47329332-47329332 G>T_PATSKPPVTLRLLVPASQCGSLIGK
16:76350316-76350316 G>T	0.0	4126	LUNG	-	-	ID=COSM559061,COSM559060,COSM559059;OCCURENCE=1(lung)	-	CNTNAP4	ENST00000307431,p.C30F|ENST00000377504,p.C30F	retained_intron, protein_coding, processed_transcript, TEC	ENST00000377504	nonsynonymous SNV	exon3	c.G89T	p.C30F	NWNRVEAGNSYDCDDPLVSALPQAS	NWNRVEAGNSYDFDDPLVSALPQAS	4.0	3.0	unscreened	-	4126_16:76350316-76350316 G>T_NWNRVEAGNSYDFDDPLVSALPQAS
17:38975371-38975388 GCCGCCGCCGAAACTTCC>-	0.0	4126	LUNG	-	-	-	-	KRT10	ENST00000269576,p.467_472del|NM_000421,p.467_472del|uc002hvi.3,p.467_472del	protein_coding	uc002hvi.3	nonframeshift deletion	exon7	c.1399_1416del	p.467_472del	GEGSSGGGGRGGGSFGGGYGGGSSG	GEGSSGGGGRGGYGGGSSGGGSSGG	7.0	1.0	unscreened	-	4126_17:38975371-38975388 GCCGCCGCCGAAACTTCC>-_GEGSSGGGGRGGYGGGSSGGGSSGG
6:51524411-51524411 T>C	0.0	4126	LUNG	-	-	-	-	PKHD1	ENST00000371117,p.S3505G|NM_138694,p.S3505G|uc003pah.1,p.S3505G	protein_coding	uc003pah.1	nonsynonymous SNV	exon61	c.A10513G	p.S3505G	KLLLAVFYHELQSPHVFLGESFIPP	KLLLAVFYHELQGPHVFLGESFIPP	2.0	3.0	unscreened	-	4126_6:51524411-51524411 T>C_KLLLAVFYHELQGPHVFLGESFIPP
5:21802388-21802388 ->T	0.0	4126	LUNG	-	-	-	-	CDH12	ENST00000504376,p.P382fs|uc011cno.1,p.P342fs|ENST00000522262,p.P342fs|uc010iuc.2,p.P382fs|ENST00000382254,p.P382fs|NM_004061,p.P382fs|uc003jgk.2,p.P382fs	retained_intron, protein_coding, processed_transcript	uc011cno.1	frameshift insertion	exon7	c.1023dupA	p.P342fs	TVKISVLDVDEPPVFSKPLYTMEVY	TVKISVLDVDEPTGFQQAALHHGGL	1.0	5.0	unscreened	-	4126_5:21802388-21802388 ->T_TVKISVLDVDEPTGFQQAALHHGGL
1:31191710-31191710 C>A	0.0	4126	LUNG	-	-	-	-	MATN1	uc001brz.3,p.G179V|ENST00000373765,p.G179V|NM_002379,p.G179V	protein_coding, processed_transcript	uc001brz.3	nonsynonymous SNV	exon3	c.G536T	p.G179V	RARASGVELFAIGVGSVDKATLRQI	RARASGVELFAIVVGSVDKATLRQI	1.0	6.0	unscreened	-	4126_1:31191710-31191710 C>A_RARASGVELFAIVVGSVDKATLRQI
4:144616995-144616995 C>A	0.0	4126	LUNG	-	-	-	-	FREM3	NM_001168235,p.G1612C|ENST00000329798,p.G1612C|uc021xsj.1,p.G1612C	protein_coding, processed_transcript	uc021xsj.1	nonsynonymous SNV	exon1	c.G4834T	p.G1612C	DLNKNLISYKHDGSETTEDSFSLTV	DLNKNLISYKHDCSETTEDSFSLTV	1.0	9.0	unscreened	-	4126_4:144616995-144616995 C>A_DLNKNLISYKHDCSETTEDSFSLTV
14:80971302-80971302 T>G	0.0	4126	LUNG	-	-	-	-	CEP128	ENST00000281129,p.Q1045P|ENST00000555265,p.Q1045P|uc001xux.2,p.Q1045P|NM_152446,p.Q1045P|uc031qpo.1,p.Q1072P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qpo.1	nonsynonymous SNV	exon25	c.A3215C	p.Q1072P	SHTRGLDHSSSWQDHSRFLSSPRFS	SHTRGLDHSSSWPDHSRFLSSPRFS	4.0	3.0	-	-	4126_14:80971302-80971302 T>G_SHTRGLDHSSSWPDHSRFLSSPRFS
2:241451376-241451376 C>A	0.0	4126	LUNG	-	-	-	-	ANKMY1	ENST00000373320,p.G411C|ENST00000272972,p.G641C|uc010fzd.1,p.G730C|NM_001282780,p.G500C|NM_001282771,p.G730C|ENST00000403283,p.G579C|NM_001282781,p.G402C|ENST00000373318,p.G500C|ENST00000401804,p.G730C|uc002vzb.1,p.G402C|uc002vyz.1,p.G641C|NM_016552,p.G641C|uc002vzd.1,p.G500C|ENST00000406958,p.G402C|uc002vzc.1,p.G500C|ENST00000391987,p.G641C	retained_intron, protein_coding, processed_transcript	uc010fzd.1	nonsynonymous SNV	exon11	c.G2188T	p.G730C	LLPSSLKLSNEPGPPQAYYSTDTAL	LLPSSLKLSNEPCPPQAYYSTDTAL	7.0	8.0	unscreened	-	4126_2:241451376-241451376 C>A_LLPSSLKLSNEPCPPQAYYSTDTAL
16:76350316-76350316 G>T	0.0	4126	LUNG	-	-	ID=COSM559061,COSM559060,COSM559059;OCCURENCE=1(lung)	-	CNTNAP4	uc002few.2,p.C6F|ENST00000478060,p.C6F|uc010chb.1,p.C6F|NM_138994,p.C6F	retained_intron, protein_coding, processed_transcript, TEC	uc010chb.1	nonsynonymous SNV	exon2	c.G17T	p.C6F	MWNYDCDDPLVSALPQAS	MWNYDFDDPLVSALPQAS	4.0	3.0	unscreened	-	4126_16:76350316-76350316 G>T_MWNYDFDDPLVSALPQAS
7:107872831-107872831 C>A	0.0	4126	LUNG	-	-	-	-	NRCAM	uc011kmk.2,p.Q122H|uc003vfe.3,p.Q122H|NM_001193582,p.Q122H|uc003vfd.3,p.Q122H|ENST00000413765,p.Q122H|NM_001193583,p.Q122H|ENST00000379022,p.Q122H|ENST00000379028,p.Q122H|uc003vfc.3,p.Q116H|uc022aka.1,p.Q122H|NM_005010,p.Q116H|NM_001193584,p.Q122H|ENST00000425651,p.Q122H|ENST00000417701,p.Q116H|ENST00000379024,p.Q122H|NM_001037132,p.Q122H|ENST00000351718,p.Q116H	retained_intron, protein_coding, processed_transcript	uc022aka.1	nonsynonymous SNV	exon4	c.G366T	p.Q122H	SEGKAETYEGVYQCTARNERGAAVS	SEGKAETYEGVYHCTARNERGAAVS	2.0	7.0	unscreened	-	4126_7:107872831-107872831 C>A_SEGKAETYEGVYHCTARNERGAAVS
20:30556340-30556340 G>A	0.0	4126	LUNG	-	-	-	-	XKR7	ENST00000217299,p.G121E|NM_001011718,p.G121E|uc002wxe.3,p.G121E	protein_coding	uc002wxe.3	nonsynonymous SNV	exon1	c.G362A	p.G121E	FRWFVYDYSEPAGSPGPAVSTKDSV	FRWFVYDYSEPAESPGPAVSTKDSV	1.0	4.0	unscreened	-	4126_20:30556340-30556340 G>A_FRWFVYDYSEPAESPGPAVSTKDSV
17:33504108-33504108 G>T	0.0	4126	LUNG	-	-	-	-	UNC45B	ENST00000394570,p.A700S|NM_001267052,p.A700S|uc002hjc.3,p.A700S|ENST00000591048,p.A621S|NM_173167,p.A702S|uc002hja.3,p.A702S|uc002hjb.3,p.A700S|uc010cto.3,p.A621S|ENST00000433649,p.A700S|NM_001033576,p.A700S|ENST00000268876,p.A702S|ENST00000378449,p.A621S	protein_coding	uc010cto.3	nonsynonymous SNV	exon13	c.G1861T	p.A621S	GKVKAAHALAKIAAVSNPDIAFPGE	GKVKAAHALAKISAVSNPDIAFPGE	1.0	7.0	unscreened	-	4126_17:33504108-33504108 G>T_GKVKAAHALAKISAVSNPDIAFPGE
18:25568560-25568560 C>A	0.0	4126	LUNG	-	-	-	-	CDH2	ENST00000269141,p.A557S|ENST00000399380,p.A526S|uc002kwg.2,p.A557S|NM_001792,p.A557S|uc010xbn.1,p.A526S	protein_coding	uc010xbn.1	nonsynonymous SNV	exon10	c.G1576T	p.A526S	KIDPVNGQITTIAVLDRESPNVKNN	KIDPVNGQITTISVLDRESPNVKNN	3.0	4.0	unscreened	-	4126_18:25568560-25568560 C>A_KIDPVNGQITTISVLDRESPNVKNN
12:53039149-53039149 C>A	0.0	4126	LUNG	-	-	-	-	KRT2	ENST00000309680,p.G525V|NM_000423,p.G525V|uc001sat.3,p.G525V	retained_intron, protein_coding	uc001sat.3	nonsynonymous SNV	exon9	c.G1574T	p.G525V	ASKAAFGGSGGRGSSSGGGYSSGSS	ASKAAFGGSGGRVSSSGGGYSSGSS	1.0	9.0	-	-	4126_12:53039149-53039149 C>A_ASKAAFGGSGGRVSSSGGGYSSGSS
22:24237657-24237657 A>T	0.0	4126	LUNG	-	-	-	-	MIF-AS1	ENST00000406213,p.S50T|uc002zys.2,p.S50T	protein_coding	uc002zys.2	nonsynonymous SNV	exon3	c.T148A	p.S50T	TDSGGQSALDPESAAQGRVPTSPHP	TDSGGQSALDPETAAQGRVPTSPHP	5.0	8.0	unscreened	-	4126_22:24237657-24237657 A>T_TDSGGQSALDPETAAQGRVPTSPHP
12:25243087-25243087 G>A	0.0	4126	LUNG	-	-	-	-	LRMP	uc001rgh.3,p.E188K|ENST00000354454,p.E188K|NM_001204127,p.E188K|ENST00000547044,p.E188K|ENST00000536173,p.E135K|uc010sjd.2,p.E135K|ENST00000361433,p.E188K|ENST00000548766,p.E188K|uc010sjc.2,p.E188K|uc010sja.2,p.E188K|NM_001204126,p.E188K|NM_006152,p.E188K|uc010sjb.2,p.E135K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sjd.2	nonsynonymous SNV	exon9	c.G403A	p.E135K	VKLEERSRDLAEENLKKEITNCLKL	VKLEERSRDLAEKNLKKEITNCLKL	4.0	2.0	-	-	4126_12:25243087-25243087 G>A_VKLEERSRDLAEKNLKKEITNCLKL
2:10059834-10059834 A>T	1.0	4126	LUNG	-	-	-	-	TAF1B	ENST00000263663,p.T484S|ENST00000396242,p.T229S|uc002qzz.3,p.T484S|NM_005680,p.T484S|uc002qzy.4,p.T484S|uc010yja.2,p.T229S|uc010exd.3,p.T229S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yja.2	nonsynonymous SNV	exon14	c.A685T	p.T229S	PSSFQFNWTEEDTDRTCFHGHSLQG	PSSFQFNWTEEDSDRTCFHGHSLQG	5.0	8.0	-	-	4126_2:10059834-10059834 A>T_PSSFQFNWTEEDSDRTCFHGHSLQG
7:48506639-48506639 G>T	0.0	4126	LUNG	-	-	-	-	ABCA13	uc003toq.2,p.R4301L|NM_152701,p.R4301L|uc031sxg.1,p.R1983L|uc031sxh.1,p.R1983L|uc010kys.2,p.R1983L|ENST00000435803,p.R4301L	retained_intron, protein_coding, nonsense_mediated_decay	uc031sxh.1	nonsynonymous SNV	exon27	c.G5948T	p.R1983L	RDQDLPCADLNPRQKNSSCWRTDPF	RDQDLPCADLNPLQKNSSCWRTDPF	1.0	9.0	unscreened	-	4126_7:48506639-48506639 G>T_RDQDLPCADLNPLQKNSSCWRTDPF
22:18314630-18314630 C>A	1.0	4126	LUNG	-	-	-	-	MICAL3	ENST00000441493,p.E1015D|uc002zng.4,p.E1015D|NM_015241,p.E1015D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002zng.4	nonsynonymous SNV	exon21	c.G3045T	p.E1015D	EEEEEDYDEEEEESSEAGNQRLQQV	EEEEEDYDEEEEDSSEAGNQRLQQV	6.0	9.0	-	-	4126_22:18314630-18314630 C>A_EEEEEDYDEEEEDSSEAGNQRLQQV
1:21930270-21930270 G>C	0.0	4126	LUNG	-	-	-	-	RAP1GAP	ENST00000495204,p.R522G|uc001bev.3,p.R522G|ENST00000374763,p.R522G	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bev.3	nonsynonymous SNV	exon16	c.C1564G	p.R522G	GSGGCLHALFSARSQDGGHIGDVAP	GSGGCLHALFSAGSQDGGHIGDVAP	5.0	9.0	unscreened	-	4126_1:21930270-21930270 G>C_GSGGCLHALFSAGSQDGGHIGDVAP
22:18314630-18314630 C>A	1.0	4126	LUNG	-	-	-	-	MICAL3	uc011agl.2,p.E1015D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011agl.2	nonsynonymous SNV	exon20	c.G3045T	p.E1015D	EEEEEDYDEEEEESSEDQHWSDSPS	EEEEEDYDEEEEDSSEDQHWSDSPS	6.0	9.0	-	-	4126_22:18314630-18314630 C>A_EEEEEDYDEEEEDSSEDQHWSDSPS
2:220286078-220286078 G>T	0.0	4126	LUNG	-	-	-	-	DES	NM_001927,p.R347M|uc002vll.3,p.R347M|ENST00000373960,p.R347M	retained_intron, protein_coding	uc002vll.3	nonsynonymous SNV	exon6	c.G1040T	p.R347M	IDALKGTNDSLMRQMRELEDRFASE	IDALKGTNDSLMMQMRELEDRFASE	3.0	7.0	unscreened	-	4126_2:220286078-220286078 G>T_IDALKGTNDSLMMQMRELEDRFASE
3:7620788-7620788 A>G	0.0	4126	LUNG	-	-	-	-	GRM7	ENST00000389336,p.Y732C|uc010hch.1,p.Y243C|uc003bql.2,p.Y732C|ENST00000440923,p.Y732C|uc010hcg.2,p.Y732C|ENST00000486284,p.Y732C|NM_000844,p.Y732C|ENST00000467425,p.Y732C|ENST00000357716,p.Y732C|ENST00000403881,p.Y732C|uc003bqm.2,p.Y732C|ENST00000389335,p.Y732C|ENST00000402647,p.Y732C|uc003bqn.1,p.Y315C|NM_181874,p.Y732C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hch.1	nonsynonymous SNV	exon6	c.A728G	p.Y243C	WFGVDPPNIIIDYDEHKTMNPEQAR	WFGVDPPNIIIDCDEHKTMNPEQAR	1.0	8.0	unscreened	-	4126_3:7620788-7620788 A>G_WFGVDPPNIIIDCDEHKTMNPEQAR
8:72948647-72948647 T>C	0.0	4126	LUNG	-	-	-	-	TRPA1	NM_007332,p.I811V|ENST00000523582,p.I663V|uc003xza.3,p.I811V|ENST00000262209,p.I811V	retained_intron, protein_coding, processed_transcript	uc003xza.3	nonsynonymous SNV	exon21	c.A2431G	p.I811V	YFMDISNVLEWIIYTTGIIFVLPLF	YFMDISNVLEWIVYTTGIIFVLPLF	2.0	5.0	unscreened	-	4126_8:72948647-72948647 T>C_YFMDISNVLEWIVYTTGIIFVLPLF
13:29599157-29599157 C>A	0.0	4126	LUNG	-	-	-	-	MTUS2	NM_001033602,p.L118I|uc001usl.4,p.L118I|ENST00000431530,p.L118I	retained_intron, protein_coding, processed_transcript	uc001usl.4	nonsynonymous SNV	exon1	c.C352A	p.L118I	KDFRLSSTIQRELNEEHTVERGTDS	KDFRLSSTIQREINEEHTVERGTDS	1.0	7.0	unscreened	-	4126_13:29599157-29599157 C>A_KDFRLSSTIQREINEEHTVERGTDS
11:114569363-114569363 G>T	0.0	4126	LUNG	-	-	-	-	NXPE2	uc009yyy.2,p.Q243H|ENST00000375475,p.Q243H|ENST00000389586,p.Q243H|NM_182495,p.Q243H	protein_coding, processed_transcript	uc009yyy.2	nonsynonymous SNV	exon3	c.G729T	p.Q243H	CGLTLNTNAELCQYMDDRDQEAFYC	CGLTLNTNAELCHYMDDRDQEAFYC	4.0	7.0	unscreened	-	4126_11:114569363-114569363 G>T_CGLTLNTNAELCHYMDDRDQEAFYC
16:88943649-88943649 G>T	0.0	4126	LUNG	-	-	-	1	CBFA2T3	ENST00000268679,p.T566K|NM_005187,p.T566K|ENST00000360302,p.T480K|ENST00000327483,p.T480K|ENST00000436887,p.T528K|uc002fmm.2,p.T566K|NM_175931,p.T480K|uc002fmk.2,p.T65K|ENST00000448839,p.T490K|uc002fml.2,p.T480K	retained_intron, protein_coding, nonsense_mediated_decay	uc002fmm.2	nonsynonymous SNV	exon12	c.C1697A	p.T566K	ESCWNCGRKASETCSGCNAARYCGS	ESCWNCGRKASEKCSGCNAARYCGS	3.0	2.0	unscreened	-	4126_16:88943649-88943649 G>T_ESCWNCGRKASEKCSGCNAARYCGS
7:142649646-142649646 G>T	0.0	4126	LUNG	-	-	ID=COSM362584;OCCURENCE=1(lung)	-	KEL	uc003wcb.3,p.R385S|NM_000420,p.R385S|ENST00000355265,p.R385S	retained_intron, protein_coding, processed_transcript	uc003wcb.3	nonsynonymous SNV	exon10	c.C1153A	p.R385S	LSPALDSQFQEARRKLSQKLRELTE	LSPALDSQFQEASRKLSQKLRELTE	1.0	8.0	unscreened	-	4126_7:142649646-142649646 G>T_LSPALDSQFQEASRKLSQKLRELTE
3:41746779-41746779 C>T	0.0	4126	LUNG	-	-	-	-	ULK4	uc003ckv.4,p.D885N|NM_017886,p.D885N|ENST00000301831,p.D885N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ckv.4	nonsynonymous SNV	exon26	c.G2653A	p.D885N	SYGTILSHIKSVDSGETNIDGAIGL	SYGTILSHIKSVNSGETNIDGAIGL	7.0	7.0	unscreened	-	4126_3:41746779-41746779 C>T_SYGTILSHIKSVNSGETNIDGAIGL
6:47575747-47575747 A>T	1.0	4126	LUNG	-	-	-	-	CD2AP	uc003oyw.3,p.T539S|NM_012120,p.T539S|ENST00000359314,p.T539S	retained_intron, protein_coding, processed_transcript	uc003oyw.3	nonsynonymous SNV	exon15	c.A1615T	p.T539S	SANLKPSELKKDTCYSPKPSVYLST	SANLKPSELKKDSCYSPKPSVYLST	7.0	4.0	-	-	4126_6:47575747-47575747 A>T_SANLKPSELKKDSCYSPKPSVYLST
1:162724952-162724952 G>A	0.0	4126	LUNG	-	-	ID=COSM530259,COSM1648430;OCCURENCE=1(lung)	1	DDR2	uc001gcg.3,p.D142N|ENST00000367922,p.D142N|NM_006182,p.D142N|uc001gcf.3,p.D142N|ENST00000367921,p.D142N|NM_001014796,p.D142N	protein_coding	uc001gcg.3	nonsynonymous SNV	exon6	c.G424A	p.D142N	ISWRNRHGKQVLDGNSNPYDIFLKD	ISWRNRHGKQVLNGNSNPYDIFLKD	3.0	7.0	unscreened	-	4126_1:162724952-162724952 G>A_ISWRNRHGKQVLNGNSNPYDIFLKD
5:54420731-54420731 C>T	0.0	4126	LUNG	-	-	-	-	CDC20B	NM_001145734,p.S372N|ENST00000322374,p.S372N|uc003jpn.2,p.S372N|NM_152623,p.S372N|uc003jpo.2,p.S372N|ENST00000381375,p.S372N|NM_001170402,p.S372N|ENST00000296733,p.S372N|uc010ivu.2,p.S372N	protein_coding, nonsense_mediated_decay	uc010ivu.2	nonsynonymous SNV	exon9	c.G1115A	p.S372N	ALKWSPDGRLLSSGCSDGLLTIWPH	ALKWSPDGRLLSNGCSDGLLTIWPH	1.0	3.0	unscreened	-	4126_5:54420731-54420731 C>T_ALKWSPDGRLLSNGCSDGLLTIWPH
17:10400663-10400663 G>C	0.0	4126	LUNG	-	-	-	-	MYH1	uc002gmo.3,p.A1491G|ENST00000226207,p.A1491G|NM_005963,p.A1491G	protein_coding	uc002gmo.3	nonsynonymous SNV	exon32	c.C4472G	p.A1491G	RSLSTELFKIKNAYEESLDQLETLK	RSLSTELFKIKNGYEESLDQLETLK	1.0	8.0	unscreened	-	4126_17:10400663-10400663 G>C_RSLSTELFKIKNGYEESLDQLETLK
2:71160171-71160171 C>A	0.0	4126	LUNG	-	-	-	-	VAX2	uc002shh.3,p.A237E|NM_012476,p.A237E|ENST00000234392,p.A237E	protein_coding	uc002shh.3	nonsynonymous SNV	exon3	c.C710A	p.A237E	SSPRLNPLSSASASPPLPPPLPAVC	SSPRLNPLSSASESPPLPPPLPAVC	5.0	3.0	unscreened	-	4126_2:71160171-71160171 C>A_SSPRLNPLSSASESPPLPPPLPAVC
8:61192430-61192430 C>A	0.0	4126	LUNG	-	-	-	-	CA8	NM_004056,p.W37L|ENST00000317995,p.W37L|uc003xub.3,p.W37L|uc003xua.1,p.W37L|uc003xtz.1,p.W37L	retained_intron, protein_coding, processed_transcript	uc003xub.3	nonsynonymous SNV	exon2	c.G110T	p.W37L	EGVEWGYEEGVEWGLVFPDANGEYQ	EGVEWGYEEGVELGLVFPDANGEYQ	3.0	7.0	unscreened	-	4126_8:61192430-61192430 C>A_EGVEWGYEEGVELGLVFPDANGEYQ
4:109790255-109790255 G>A	0.0	4126	LUNG	-	-	-	-	COL25A1	uc003hzg.4,p.P358S|uc003hze.2,p.P358S|ENST00000399126,p.P358S|NM_032518,p.P358S|ENST00000399132,p.P358S|NM_001256074,p.P354S|ENST00000494183,p.P286S|uc021xqo.1,p.P358S|uc003hzf.4,p.P354S|NM_198721,p.P358S|ENST00000399127,p.P354S|uc021xqp.2,p.P358S|uc003hzh.2,p.P354S	retained_intron, protein_coding, nonsense_mediated_decay	uc021xqp.2	nonsynonymous SNV	exon19	c.C1072T	p.P358S	IGPQGEPGLPGLPGTKGERGEAGPP	IGPQGEPGLPGLSGTKGERGEAGPP	1.0	3.0	unscreened	-	4126_4:109790255-109790255 G>A_IGPQGEPGLPGLSGTKGERGEAGPP
2:152318818-152318818 A>G	0.0	4126	LUNG	0.0005	-	-	-	RIF1	NM_001177665,p.Y1097C|ENST00000453091,p.Y1097C|ENST00000428287,p.Y1097C|ENST00000430328,p.Y1097C|NM_018151,p.Y1097C|uc002txo.3,p.Y1097C|NM_001177664,p.Y1097C|uc002txl.3,p.Y1097C|NM_001177663,p.Y1097C|ENST00000243326,p.Y1097C|ENST00000444746,p.Y1097C|uc002txm.3,p.Y1097C|uc002txn.3,p.Y1097C	protein_coding, processed_transcript, nonsense_mediated_decay	uc002txo.3	nonsynonymous SNV	exon27	c.A3290G	p.Y1097C	NLDVSQDTLFTQYSQEEPMEIPTLT	NLDVSQDTLFTQCSQEEPMEIPTLT	5.0	6.0	unscreened	-	4126_2:152318818-152318818 A>G_NLDVSQDTLFTQCSQEEPMEIPTLT
3:40251570-40251570 G>A	0.0	4126	LUNG	-	-	-	-	MYRIP	ENST00000458292,p.E631K	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000458292	nonsynonymous SNV	exon11	c.G1891A	p.E631K	SLSSEDNSQSVQEELKKKS	SLSSEDNSQSVQKELKKKS	1.0	5.0	unscreened	-	4126_3:40251570-40251570 G>A_SLSSEDNSQSVQKELKKKS
1:44595179-44595179 G>A	0.0	4126	LUNG	-	-	-	-	KLF17	uc009vxf.1,p.G42E|ENST00000372299,p.G79E|NM_173484,p.G79E|uc001clp.3,p.G79E	protein_coding, processed_transcript	uc009vxf.1	nonsynonymous SNV	exon3	c.G125A	p.G42E	MLGSPLVSVEAPGQNVNEGGPQFSM	MLGSPLVSVEAPEQNVNEGGPQFSM	1.0	6.0	unscreened	-	4126_1:44595179-44595179 G>A_MLGSPLVSVEAPEQNVNEGGPQFSM
1:196394996-196394996 G>T	0.0	4126	LUNG	-	-	-	-	KCNT2	uc009wyv.1,p.D344E|NM_001287820,p.D369E|uc001gte.1,p.D369E|uc001gtf.1,p.D369E|NM_198503,p.D369E|ENST00000367433,p.D369E|ENST00000294725,p.D369E|uc009wyu.3,p.D369E|uc001gtd.1,p.D369E|NM_001287819,p.D369E|ENST00000367431,p.D369E	protein_coding, processed_transcript	uc009wyv.1	nonsynonymous SNV	exon10	c.C1032A	p.D344E	VIYLQGSALKDQDLLRAKMDDAEAC	VIYLQGSALKDQELLRAKMDDAEAC	1.0	5.0	-	-	4126_1:196394996-196394996 G>T_VIYLQGSALKDQELLRAKMDDAEAC
13:25418858-25418858 T>G	0.0	4126	LUNG	-	-	-	-	RNF17	NM_031277,p.M967R|uc001ups.3,p.M906R|NM_001184993,p.M967R|ENST00000418120,p.M291R|uc001upr.3,p.M967R|ENST00000381921,p.M967R|uc010aac.3,p.M165R|uc010tdd.1,p.M826R|ENST00000255324,p.M967R|uc010tde.2,p.M967R|uc010aad.3,p.M19R|ENST00000339524,p.M19R	protein_coding, processed_transcript	uc010tde.2	nonsynonymous SNV	exon21	c.T2900G	p.M967R	NSKWEPVKWENDMHCAVKIQDKNQW	NSKWEPVKWENDRHCAVKIQDKNQW	1.0	5.0	unscreened	-	4126_13:25418858-25418858 T>G_NSKWEPVKWENDRHCAVKIQDKNQW
2:186670751-186670751 C>A	0.0	4126	LUNG	-	-	-	-	FSIP2	NM_173651,p.T5662K|uc002upl.3,p.T5662K|ENST00000343098,p.T5662K|ENST00000424728,p.T5573K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon17	c.C16985A	p.T5662K	NNEIEKKRNLIPTDKKGKDDEIYTH	NNEIEKKRNLIPKDKKGKDDEIYTH	4.0	4.0	unscreened	-	4126_2:186670751-186670751 C>A_NNEIEKKRNLIPKDKKGKDDEIYTH
3:40251570-40251570 G>A	0.0	4126	LUNG	-	-	-	-	MYRIP	ENST00000444716,p.E631K|uc010hhw.3,p.E542K|uc003cka.3,p.E631K|ENST00000539167,p.E444K|NM_001284425,p.E542K|uc011ayz.2,p.E444K|NM_015460,p.E631K|ENST00000302541,p.E631K|NM_001284426,p.E444K|ENST00000396217,p.E542K|NM_001284423,p.E631K	protein_coding, processed_transcript, nonsense_mediated_decay	uc011ayz.2	nonsynonymous SNV	exon9	c.G1330A	p.E444K	SLSSEDNSQSVQEELKKKFSAVSLC	SLSSEDNSQSVQKELKKKFSAVSLC	1.0	5.0	unscreened	-	4126_3:40251570-40251570 G>A_SLSSEDNSQSVQKELKKKFSAVSLC
3:40251570-40251570 G>A	0.0	4126	LUNG	-	-	-	-	MYRIP	ENST00000425621,p.E631K|NM_001284424,p.E631K|uc010hhv.3,p.E631K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010hhv.3	nonsynonymous SNV	exon11	c.G1891A	p.E631K	SLSSEDNSQSVQEELKKVYLAAGTV	SLSSEDNSQSVQKELKKVYLAAGTV	1.0	5.0	unscreened	-	4126_3:40251570-40251570 G>A_SLSSEDNSQSVQKELKKVYLAAGTV
5:39341712-39341712 C>G	0.0	4126	LUNG	-	-	-	-	C9	NM_001737,p.E92Q|uc003jlv.4,p.E92Q|ENST00000263408,p.E92Q	retained_intron, protein_coding, processed_transcript	uc003jlv.4	nonsynonymous SNV	exon3	c.G274C	p.E92Q	DAVGDRRQCVPTEPCEDAEDDCGND	DAVGDRRQCVPTQPCEDAEDDCGND	1.0	6.0	unscreened	-	4126_5:39341712-39341712 C>G_DAVGDRRQCVPTQPCEDAEDDCGND
8:63998577-63998577 C>A	0.0	4126	LUNG	-	-	-	-	TTPA	uc003xux.2,p.A2S|ENST00000260116,p.A2S|NM_000370,p.A2S	protein_coding, processed_transcript	uc003xux.2	nonsynonymous SNV	exon1	c.G4T	p.A2S	MAEARSQPSAGPQL	MSEARSQPSAGPQL	3.0	4.0	unscreened	-	4126_8:63998577-63998577 C>A_MSEARSQPSAGPQL
2:95691589-95691589 G>T	1.0	4129	LUNG	-	-	-	-	MAL	ENST00000309988,p.V18F|ENST00000354078,p.V18F|ENST00000349807,p.V18F|ENST00000353004,p.V18F|NM_022438,p.V18F|NM_022440,p.V18F|NM_022439,p.V18F|uc002stz.2,p.V18F|uc002sty.2,p.V18F|uc002sua.2,p.V18F|uc002stx.2,p.V18F|NM_002371,p.V18F	protein_coding, processed_transcript	uc002sua.2	nonsynonymous SNV	exon1	c.G52T	p.V18F	ATGGSTLPSGFSVFTTLPDLLFIFE	ATGGSTLPSGFSFFTTLPDLLFIFE	9.0	9.0	-	-	4129_2:95691589-95691589 G>T_ATGGSTLPSGFSFFTTLPDLLFIFE
15:51795113-51795113 A>G	1.0	4129	LUNG	-	-	-	-	DMXL2	ENST00000251076,p.I961T|uc002abf.3,p.I961T|uc010ufy.2,p.I961T|NM_015263,p.I961T|ENST00000543779,p.I961T|NM_001174116,p.I961T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ufy.2	nonsynonymous SNV	exon17	c.T2882C	p.I961T	SPSVSPMPHSSSIANLQTASKLILS	SPSVSPMPHSSSTANLQTASKLILS	7.0	7.0	-	-	4129_15:51795113-51795113 A>G_SPSVSPMPHSSSTANLQTASKLILS
9:134006156-134006156 G>A	1.0	4129	LUNG	-	-	-	1	NUP214	ENST00000411637,p.C199Y|ENST00000451030,p.C199Y|uc004cag.3,p.C199Y|ENST00000359428,p.C199Y|NM_005085,p.C199Y|uc004caf.1,p.C199Y|uc004cah.3,p.C199Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004cah.3	nonsynonymous SNV	exon5	c.G596A	p.C199Y	ATLPSTVAVTSVCWSPKGKQLAVGK	ATLPSTVAVTSVYWSPKGKQLAVGK	9.0	10.0	CD8	-	4129_9:134006156-134006156 G>A_ATLPSTVAVTSVYWSPKGKQLAVGK
17:79095107-79095107 C>A	1.0	4129	LUNG	-	-	-	-	AATK	NM_004920,p.D774Y|ENST00000326724,p.D877Y|ENST00000374792,p.D841Y|ENST00000417379,p.D774Y|NM_001080395,p.D877Y|uc010dia.3,p.D877Y|ENST00000570932,p.D67Y|uc021ueu.1,p.D774Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ueu.1	nonsynonymous SNV	exon10	c.G2320T	p.D774Y	EATSGIFTDTSSDGLQARRPDVVPA	EATSGIFTDTSSYGLQARRPDVVPA	6.0	4.0	-	-	4129_17:79095107-79095107 C>A_EATSGIFTDTSSYGLQARRPDVVPA
10:33496570-33496570 C>A	1.0	4129	LUNG	-	-	-	-	NRP1	ENST00000374875,p.R382S|uc001iwv.4,p.R563S|ENST00000374823,p.R563S|NM_001244972,p.R563S|uc001iwx.4,p.R563S|NM_003873,p.R563S|NM_001244973,p.R563S|NM_001024629,p.R563S|uc001iww.4,p.R382S|ENST00000374821,p.R563S|ENST00000374816,p.R563S|uc001iwy.4,p.R563S|ENST00000374822,p.R563S|ENST00000395995,p.R563S|uc001ixa.2,p.R563S|NM_001024628,p.R563S|uc001iwz.2,p.R563S|uc001ixb.2,p.R563S|ENST00000265371,p.R563S|ENST00000374867,p.R563S|uc009xlz.3,p.R563S	protein_coding, processed_transcript	uc009xlz.3	nonsynonymous SNV	exon10	c.G1689T	p.R563S	LRTFPALSTRFIRIYPERATHGGLG	LRTFPALSTRFISIYPERATHGGLG	10.0	6.0	-	-	4129_10:33496570-33496570 C>A_LRTFPALSTRFISIYPERATHGGLG
6:43305054-43305054 C>A	1.0	4129	LUNG	-	-	-	-	ZNF318	NM_014345,p.D2228Y|uc003oux.3,p.D2228Y|ENST00000361428,p.D2228Y	protein_coding	uc003oux.3	nonsynonymous SNV	exon10	c.G6682T	p.D2228Y	STTEVAILQVDDDSGDPLNLVKAPV	STTEVAILQVDDYSGDPLNLVKAPV	6.0	9.0	-	-	4129_6:43305054-43305054 C>A_STTEVAILQVDDYSGDPLNLVKAPV
18:44641546-44641546 C>A	1.0	4129	LUNG	-	-	-	-	HDHD2	uc002lct.3,p.R100L|ENST00000300605,p.R190L|uc002lcs.3,p.R190L|NM_032124,p.R190L|ENST00000590815,p.R190L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lct.3	nonsynonymous SNV	exon5	c.G299T	p.R100L	GKPEKTFFLEALRGTGCEPEEAVMI	GKPEKTFFLEALLGTGCEPEEAVMI	9.0	5.0	-	-	4129_18:44641546-44641546 C>A_GKPEKTFFLEALLGTGCEPEEAVMI
X:48458049-48458049 A>T	1.0	4129	LUNG	-	-	-	-	WDR13	uc004dkk.2,p.E64V|uc004dkl.4,p.E64V|ENST00000376729,p.E156V|NM_001166426,p.E64V|ENST00000218056,p.E156V|uc004dkj.2,p.E156V|NM_017883,p.E156V|uc011mme.2,p.E34V	protein_coding, processed_transcript	uc011mme.2	nonsynonymous SNV	exon2	c.A101T	p.E34V	ASRAMAGDTSLSENYAFAGMYHVFD	ASRAMAGDTSLSVNYAFAGMYHVFD	10.0	2.0	-	-	4129_X:48458049-48458049 A>T_ASRAMAGDTSLSVNYAFAGMYHVFD
4:37857263-37857263 C>A	1.0	4129	LUNG	-	-	-	-	PGM2	uc011byc.1,p.T386N|NM_018290,p.T546N|ENST00000537241,p.T386N|ENST00000381967,p.T546N|uc011byb.1,p.T546N	protein_coding, nonsense_mediated_decay	uc011byc.1	nonsynonymous SNV	exon11	c.C1157A	p.T386N	AVLPTSKSSQMITFTFANGGVATMR	AVLPTSKSSQMINFTFANGGVATMR	8.0	2.0	-	-	4129_4:37857263-37857263 C>A_AVLPTSKSSQMINFTFANGGVATMR
17:726892-726892 C>A	1.0	4129	LUNG	-	-	-	-	NXN	uc010vqe.2,p.V90F|uc002fsa.3,p.V198F|NM_022463,p.V198F|NM_001205319,p.V90F|ENST00000336868,p.V198F|ENST00000575801,p.V90F	retained_intron, protein_coding, processed_transcript	uc010vqe.2	nonsynonymous SNV	exon3	c.G268T	p.V90F	LESSSLEGSHVGVYFSAHWCPPCRS	LESSSLEGSHVGFYFSAHWCPPCRS	10.0	9.0	-	-	4129_17:726892-726892 C>A_LESSSLEGSHVGFYFSAHWCPPCRS
6:26217336-26217336 G>A	1.0	4129	LUNG	-	-	-	-	HIST1H2AE	uc003nha.1,p.G45E|NM_021052,p.G45E|ENST00000303910,p.G45E	protein_coding	uc003nha.1	nonsynonymous SNV	exon1	c.G134A	p.G45E	RLLRKGNYSERVGAGAPVYLAAVLE	RLLRKGNYSERVEAGAPVYLAAVLE	7.0	6.0	-	-	4129_6:26217336-26217336 G>A_RLLRKGNYSERVEAGAPVYLAAVLE
2:157413913-157413913 G>T	1.0	4129	LUNG	-	-	-	-	GPD2	ENST00000438166,p.M328I|ENST00000409674,p.M328I|uc002tzd.4,p.M328I|ENST00000310454,p.M328I|NM_001083112,p.M328I|ENST00000409861,p.M328I|ENST00000409125,p.M101I|uc002tzf.4,p.M328I|NM_000408,p.M328I|ENST00000540309,p.M328I|uc010zch.2,p.M101I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zch.2	nonsynonymous SNV	exon5	c.G303T	p.M101I	HIVMPGYYSPESMGLLDPATSDGRV	HIVMPGYYSPESIGLLDPATSDGRV	8.0	4.0	-	-	4129_2:157413913-157413913 G>T_HIVMPGYYSPESIGLLDPATSDGRV
4:5687098-5687098 C>A	1.0	4129	LUNG	-	-	-	-	EVC2	uc003gik.3,p.R192L|ENST00000509670,p.R192L|uc003gij.3,p.R272L|ENST00000344938,p.R272L|ENST00000310917,p.R192L|ENST00000475313,p.R192L|ENST00000344408,p.R272L|NM_001166136,p.R192L|NM_147127,p.R272L	protein_coding, nonsense_mediated_decay	uc003gik.3	nonsynonymous SNV	exon6	c.G575T	p.R192L	KLPAQLTFQSSSRNRTQLKVLFSIT	KLPAQLTFQSSSLNRTQLKVLFSIT	5.0	1.0	-	-	4129_4:5687098-5687098 C>A_KLPAQLTFQSSSLNRTQLKVLFSIT
4:169927924-169927924 C>A	1.0	4129	LUNG	-	-	-	-	CBR4	ENST00000504561,p.G125W	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000504561	nonsynonymous SNV	exon3	c.G373T	p.G125W	KAAMRTMIQQQGGSIVNVGHRREML	KAAMRTMIQQQGWSIVNVGHRREML	7.0	8.0	-	-	4129_4:169927924-169927924 C>A_KAAMRTMIQQQGWSIVNVGHRREML
4:169927924-169927924 C>A	1.0	4129	LUNG	-	-	-	-	CBR4	ENST00000504480,p.G128W|uc003iry.3,p.G128W|ENST00000306193,p.G128W|NM_032783,p.G128W|uc003irz.2,p.G128W	protein_coding, processed_transcript, nonsense_mediated_decay	uc003irz.2	nonsynonymous SNV	exon3	c.G382T	p.G128W	KAAMRTMIQQQGGSIVNVGSIVGLK	KAAMRTMIQQQGWSIVNVGSIVGLK	7.0	8.0	-	-	4129_4:169927924-169927924 C>A_KAAMRTMIQQQGWSIVNVGSIVGLK
22:33700401-33700401 C>A	0.0	4129	LUNG	-	-	-	-	LARGE	uc003ane.4,p.R515L|uc011ame.2,p.R447L|ENST00000397394,p.R515L|ENST00000402320,p.R463L|ENST00000452586,p.R314L|ENST00000437602,p.R515L|uc010gwp.3,p.R463L|ENST00000337431,p.R463L|NM_133642,p.R515L|NM_004737,p.R515L|uc011amd.2,p.R314L|ENST00000354992,p.R515L|uc011amf.2,p.R515L|uc003and.4,p.R515L	protein_coding, processed_transcript	uc011amf.2	nonsynonymous SNV	exon12	c.G1544T	p.R515L	LYLSDAEAQQFLRYAQGSEVLMSRH	LYLSDAEAQQFLLYAQGSEVLMSRH	6.0	10.0	-	-	4129_22:33700401-33700401 C>A_LYLSDAEAQQFLLYAQGSEVLMSRH
12:70729243-70729243 G>T	1.0	4129	LUNG	-	-	-	-	CNOT2	ENST00000552915,p.L164F|NM_001199303,p.L225F|ENST00000551043,p.L225F|uc009zrp.3,p.L205F|uc009zrq.3,p.L225F|ENST00000229195,p.L225F|uc001svv.3,p.L225F|ENST00000418359,p.L225F|NM_001199302,p.L225F|uc009zro.3,p.L225F|NM_014515,p.L225F|ENST00000552231,p.L225F|ENST00000550155,p.L35F|ENST00000548159,p.L216F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zrq.3	nonsynonymous SNV	exon8	c.G675T	p.L225F	FNGTDGSENVTGLDLSDFPALADRN	FNGTDGSENVTGFDLSDFPALADRN	10.0	5.0	-	-	4129_12:70729243-70729243 G>T_FNGTDGSENVTGFDLSDFPALADRN
8:120814162-120814162 C>G	0.0	4129	LUNG	-	-	-	-	TAF2	uc003you.3,p.E222Q|NM_003184,p.E222Q|ENST00000378164,p.E222Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003you.3	nonsynonymous SNV	exon6	c.G664C	p.E222Q	AAMVAVSNGDLVETVYTHDMRKKTF	AAMVAVSNGDLVQTVYTHDMRKKTF	10.0	9.0	-	-	4129_8:120814162-120814162 C>G_AAMVAVSNGDLVQTVYTHDMRKKTF
12:70729243-70729243 G>T	1.0	4129	LUNG	-	-	-	-	CNOT2	ENST00000552483,p.L79F|ENST00000550160,p.L88F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000552483	nonsynonymous SNV	exon7	c.G237T	p.L79F	YGQQNGSENVTGLDLSDFPALADRN	YGQQNGSENVTGFDLSDFPALADRN	10.0	5.0	-	-	4129_12:70729243-70729243 G>T_YGQQNGSENVTGFDLSDFPALADRN
15:102224339-102224339 C>G	1.0	4129	LUNG	-	-	-	-	TARSL2	ENST00000335968,p.G530A|NM_152334,p.G530A|uc002bxl.3,p.G75A|uc002bxm.3,p.G530A|ENST00000539112,p.G530A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bxm.3	nonsynonymous SNV	exon12	c.G1589C	p.G530A	VLHRNELSGTLSGLTRVRRFQQDDA	VLHRNELSGTLSALTRVRRFQQDDA	7.0	6.0	-	-	4129_15:102224339-102224339 C>G_VLHRNELSGTLSALTRVRRFQQDDA
14:76088503-76088503 A>G	1.0	4129	LUNG	-	-	-	-	FLVCR2	NM_017791,p.S251G|uc001xrs.2,p.S251G|uc010tvd.1,p.S46G|ENST00000539311,p.S46G|NM_001195283,p.S46G|ENST00000238667,p.S251G	retained_intron, protein_coding, processed_transcript	uc010tvd.1	nonsynonymous SNV	exon2	c.A136G	p.S46G	NIEDRDELAYHISIMFYIIGGVATL	NIEDRDELAYHIGIMFYIIGGVATL	8.0	8.0	-	-	4129_14:76088503-76088503 A>G_NIEDRDELAYHIGIMFYIIGGVATL
3:41275274-41275274 G>T	1.0	4129	LUNG	-	-	-	1	CTNNB1	uc011azg.1,p.M408I|ENST00000453024,p.M473I|uc003ckp.2,p.M480I|ENST00000349496,p.M480I|uc003ckr.2,p.M480I|ENST00000405570,p.M480I|uc010hia.1,p.M480I|uc003cks.3,p.M83I|NM_001098210,p.M480I|ENST00000396185,p.M480I|uc003ckq.2,p.M480I|uc011azf.1,p.M473I|ENST00000396183,p.M480I|NM_001904,p.M480I|NM_001098209,p.M480I	retained_intron, protein_coding, processed_transcript	uc011azg.1	nonsynonymous SNV	exon9	c.G1224T	p.M408I	LRHLTSRHQEAEMAQNAVRLHYGLP	LRHLTSRHQEAEIAQNAVRLHYGLP	10.0	8.0	-	-	4129_3:41275274-41275274 G>T_LRHLTSRHQEAEIAQNAVRLHYGLP
19:53611861-53611862 CA>-	1.0	4129	LUNG	-	-	-	-	ZNF415	uc010yds.2,p.V479fs|ENST00000601493,p.V249fs|uc002qba.3,p.V249fs|ENST00000421033,p.V491fs|uc010ydt.2,p.V479fs|NM_001164309,p.V479fs|ENST00000455735,p.V527fs|ENST00000448501,p.V527fs|NM_018355,p.V479fs|uc002qav.3,p.V491fs|uc002qax.3,p.V527fs|NM_001136038,p.V479fs|uc002qaz.3,p.V527fs|ENST00000440291,p.V466fs|uc002qaw.3,p.V479fs|ENST00000500065,p.V479fs|uc002qau.3,p.V466fs|ENST00000243643,p.V479fs|uc002qay.3,p.V466fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ydt.2	frameshift deletion	exon4	c.1436_1437del	p.V479fs	PYKCNQCGKGFSVHSSLTTHQVIHT	PYKCNQCGKGFSAFKPNYPSGHPYWRKTLQM	8.0	2.0	-	-	4129_19:53611861-53611862 CA>-_PYKCNQCGKGFSAFKPNYPSGHPYWRKTLQM
1:45120566-45120566 C>A	1.0	4129	LUNG	-	-	-	-	TMEM53	uc001cmc.3,p.A167S|NM_024587,p.A167S|NM_001300748,p.A136S|NM_001300746,p.A94S|uc001cmd.3,p.A94S|uc009vxh.1,p.A50S|NM_001300747,p.A137S|ENST00000372235,p.A137S|ENST00000372237,p.A167S|uc010ola.1,p.A50S	protein_coding, processed_transcript	uc010ola.1	nonsynonymous SNV	exon2	c.G148T	p.A50S	LRALAAILERRAAMLRLLLLVAFAL	LRALAAILERRASMLRLLLLVAFAL	8.0	9.0	-	-	4129_1:45120566-45120566 C>A_LRALAAILERRASMLRLLLLVAFAL
2:43452871-43452871 ->A	1.0	4129	LUNG	-	-	-	-	ZFP36L2	ENST00000282388,p.N24fs|uc002rsv.4,p.N24fs|NM_006887,p.N24fs	protein_coding	uc002rsv.4	frameshift insertion	exon2	c.71_72insT	p.N24fs	VDFLCKTEKSLANLNLNNMLDKKAV	VDFLCKTEKSLANPQPEQHAGQEGGGDACGRRPQLGLRAGIPPTALGQQPACTRPPRAQPRQLLAQVPGRR	9.0	9.0	unscreened	-	4129_2:43452871-43452871 ->A_VDFLCKTEKSLANPQPEQHAGQEGGGDACGRRPQLGLRAGIPPTALGQQPACTRPPRAQPRQLLAQVPGRR
17:7578451-7578451 A>T	1.0	4129	LUNG	-	-	ID=COSM44305;OCCURENCE=2(stomach),2(ovary)	1	TP53	NM_001276695,p.M121K|ENST00000445888,p.M160K|NM_001276696,p.M121K|ENST00000269305,p.M160K|uc002gig.1,p.M160K|uc002gin.3,p.M67K|uc031qyq.1,p.M121K|uc002gih.3,p.M160K|NM_001276760,p.M121K|NM_001276761,p.M121K|ENST00000420246,p.M160K|NM_001126113,p.M160K|ENST00000359597,p.M160K|uc002gio.3,p.M28K|ENST00000455263,p.M160K|ENST00000413465,p.M160K|NM_001126114,p.M160K|NM_001126116,p.M28K|NM_001126115,p.M28K|ENST00000514944,p.M67K|NM_001126112,p.M160K|NM_001126117,p.M28K|uc002gij.3,p.M121K|uc010vug.3,p.M121K|NM_000546,p.M160K|ENST00000509690,p.M28K|NM_001126118,p.M121K	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon4	c.T362A	p.M121K	DSTPPPGTRVRAMAIYKQSQHMTEV	DSTPPPGTRVRAKAIYKQSQHMTEV	10.0	9.0	-	-	4129_17:7578451-7578451 A>T_DSTPPPGTRVRAKAIYKQSQHMTEV
1:155838230-155838230 C>T	0.0	4129	LUNG	-	-	-	-	SYT11	NM_152280,p.P170L|uc001fmg.3,p.P170L|ENST00000368324,p.P170L	protein_coding	uc001fmg.3	nonsynonymous SNV	exon2	c.C509T	p.P170L	LGSLTFSVDYNFPKKALVVTIQEAH	LGSLTFSVDYNFLKKALVVTIQEAH	6.0	2.0	-	-	4129_1:155838230-155838230 C>T_LGSLTFSVDYNFLKKALVVTIQEAH
1:55638073-55638073 C>A	1.0	4129	LUNG	-	-	-	-	USP24	ENST00000294383,p.G227C|uc021onw.1,p.G227C|uc001cyg.4,p.G109C|NM_015306,p.G227C|ENST00000407756,p.G115C	retained_intron, protein_coding, processed_transcript	uc021onw.1	nonsynonymous SNV	exon4	c.G679T	p.G227C	VAERIKQDPIPTGLLGVLTMAFNPD	VAERIKQDPIPTCLLGVLTMAFNPD	9.0	7.0	unscreened	-	4129_1:55638073-55638073 C>A_VAERIKQDPIPTCLLGVLTMAFNPD
2:233422612-233422612 G>A	0.0	4129	LUNG	-	-	-	-	EIF4E2	NM_004846,p.A52T|NM_001282958,p.A52T|ENST00000258416,p.A52T|uc002vta.3,p.A52T|uc002vtb.1,p.A52T|NM_001276336,p.A52T|ENST00000409495,p.A52T|ENST00000454501,p.A47T|ENST00000409098,p.A52T|ENST00000409514,p.A52T	retained_intron, protein_coding, processed_transcript	uc002vtb.1	nonsynonymous SNV	exon3	c.G154A	p.A52T	SSSKRKAVVPGPAEHPLQYNYTFWY	SSSKRKAVVPGPTEHPLQYNYTFWY	10.0	1.0	unscreened	-	4129_2:233422612-233422612 G>A_SSSKRKAVVPGPTEHPLQYNYTFWY
2:225657745-225657745 C>-	0.0	4129	LUNG	-	-	-	-	DOCK10	uc010fwz.1,p.E1753fs|uc002voa.2,p.E409fs|uc002vob.2,p.E1747fs|ENST00000258390,p.E1753fs|NM_014689,p.E1753fs|NM_001290263,p.E1747fs|ENST00000409592,p.E1747fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fwz.1	frameshift deletion	exon47	c.5257delG	p.E1753fs	KVEKICTASLLSEDTHPCDSNSLLT	KVEKICTASLLSRIPTPVIATHY	8.0	5.0	unscreened	-	4129_2:225657745-225657745 C>-_KVEKICTASLLSRIPTPVIATHY
9:132620855-132620855 C>T	1.0	4129	LUNG	-	-	-	-	USP20	uc004bys.3,p.S103F|ENST00000315480,p.S103F|NM_006676,p.S103F|NM_001008563,p.S103F|uc004byr.3,p.S103F|uc004byt.2,p.S103F|ENST00000358355,p.S103F|NM_001110303,p.S103F|ENST00000372429,p.S103F	protein_coding, processed_transcript	uc004byt.2	nonsynonymous SNV	exon6	c.C308T	p.S103F	FLEQRLAAPLLGSSSKFSEQDSPPP	FLEQRLAAPLLGFSSKFSEQDSPPP	7.0	10.0	-	-	4129_9:132620855-132620855 C>T_FLEQRLAAPLLGFSSKFSEQDSPPP
11:76893105-76893105 G>A	0.0	4129	LUNG	-	-	-	-	MYO7A	uc009yut.1,p.A216T|uc001oyc.2,p.A1005T|NM_001127180,p.A1005T|uc001oyd.3,p.A345T|ENST00000458637,p.A1005T|NM_000260,p.A1005T|ENST00000409619,p.A994T|uc001oyb.2,p.A1005T|ENST00000409709,p.A1005T|uc010rsl.2,p.A1005T|NM_001127179,p.A1005T|ENST00000458169,p.A186T|uc010rsm.1,p.A994T|ENST00000409893,p.A1005T	retained_intron, protein_coding, processed_transcript	uc010rsm.1	nonsynonymous SNV	exon25	c.G2980A	p.A994T	EEDLSEYKFAKFAATYFQGTTTHSY	EEDLSEYKFAKFTATYFQGTTTHSY	6.0	9.0	-	-	4129_11:76893105-76893105 G>A_EEDLSEYKFAKFTATYFQGTTTHSY
19:33904513-33904513 C>A	1.0	4129	LUNG	-	-	-	-	PEPD	uc010xrr.2,p.M195I|ENST00000397032,p.M195I|NM_001166056,p.M195I	retained_intron, protein_coding, lincRNA	uc010xrr.2	nonsynonymous SNV	exon8	c.G585T	p.M195I	CLFEHYCYSRGGMRHSSYTCICGSG	CLFEHYCYSRGGIRHSSYTCICGSG	10.0	3.0	-	-	4129_19:33904513-33904513 C>A_CLFEHYCYSRGGIRHSSYTCICGSG
19:33904513-33904513 C>A	1.0	4129	LUNG	-	-	-	-	PEPD	uc010xrs.2,p.M172I|ENST00000593163,p.M129I|NM_001166057,p.M172I|ENST00000436370,p.M172I|ENST00000244137,p.M236I|uc002nur.4,p.M236I|NM_000285,p.M236I	retained_intron, protein_coding, lincRNA	uc010xrs.2	nonsynonymous SNV	exon8	c.G516T	p.M172I	SLFEHYCYSRGGMRHSSYTCICGSG	SLFEHYCYSRGGIRHSSYTCICGSG	10.0	3.0	-	-	4129_19:33904513-33904513 C>A_SLFEHYCYSRGGIRHSSYTCICGSG
20:36854105-36854105 A>T	0.0	4129	LUNG	-	-	-	-	KIAA1755	uc002xhy.1,p.F711I|uc002xhz.1,p.F711I|NM_001029864,p.F711I|ENST00000279024,p.F711I	retained_intron, protein_coding	uc002xhz.1	nonsynonymous SNV	exon8	c.T2131A	p.F711I	DPSQLPAVLEGPFPYCHTEWVHFFQ	DPSQLPAVLEGPIPYCHTEWVHFFQ	5.0	2.0	unscreened	-	4129_20:36854105-36854105 A>T_DPSQLPAVLEGPIPYCHTEWVHFFQ
2:219513378-219513378 C>A	1.0	4129	LUNG	-	-	-	-	ZNF142	uc002vil.3,p.R379L|NM_001105537,p.R418L|uc002vim.4,p.R255L|ENST00000449707,p.R418L|uc002vin.4,p.R418L|ENST00000411696,p.R418L|uc010fvt.4,p.R255L	protein_coding, nonsense_mediated_decay	uc010fvt.4	nonsynonymous SNV	exon7	c.G764T	p.R255L	CNFATAHKRVLIRHMLLHTGEKPHK	CNFATAHKRVLILHMLLHTGEKPHK	6.0	6.0	-	-	4129_2:219513378-219513378 C>A_CNFATAHKRVLILHMLLHTGEKPHK
20:1559029-1559029 C>-	0.0	4129	LUNG	-	-	ID=COSM1724829;OCCURENCE=2(NS)	-	SIRPB1	ENST00000381605,p.D130fs|NM_006065,p.D130fs|uc010gai.3,p.D130fs	protein_coding, nonsense_mediated_decay, processed_transcript	uc010gai.3	frameshift deletion	exon2	c.388delG	p.D130fs	YYCVKFRKGSPDDVEFKSGAGTELS	YYCVKFRKGSPDTWSLSLEQALSCLCAPNPLPPWYRALR	6.0	1.0	unscreened	-	4129_20:1559029-1559029 C>-_YYCVKFRKGSPDTWSLSLEQALSCLCAPNPLPPWYRALR
1:156939147-156939147 C>A	1.0	4129	LUNG	-	-	-	-	ARHGEF11	uc001fqn.3,p.R251L|uc001fqo.3,p.R211L|NM_014784,p.R211L|ENST00000361409,p.R211L|NM_198236,p.R251L|ENST00000368194,p.R251L	protein_coding, processed_transcript	uc001fqo.3	nonsynonymous SNV	exon9	c.G632T	p.R211L	LYGDTSQRPSEGRLSLDSQEGDSGL	LYGDTSQRPSEGLLSLDSQEGDSGL	8.0	10.0	-	-	4129_1:156939147-156939147 C>A_LYGDTSQRPSEGLLSLDSQEGDSGL
12:53494903-53494903 G>A	0.0	4129	LUNG	0.0014	-	-	-	IGFBP6	ENST00000548547,p.V185M|uc001sbu.1,p.V187M|NM_002178,p.V187M|ENST00000301464,p.V187M	protein_coding, processed_transcript, nonsense_mediated_decay	uc001sbu.1	nonsynonymous SNV	exon3	c.G559A	p.V187M	QTEVYRGAQTLYVPNCDHRGFYRKR	QTEVYRGAQTLYMPNCDHRGFYRKR	7.0	5.0	-	-	4129_12:53494903-53494903 G>A_QTEVYRGAQTLYMPNCDHRGFYRKR
20:1559029-1559029 C>-	0.0	4129	LUNG	-	-	ID=COSM1724829;OCCURENCE=2(NS)	-	SIRPB1	ENST00000564763,p.D130fs	protein_coding, nonsense_mediated_decay, processed_transcript	ENST00000564763	frameshift deletion	exon2	c.388delG	p.D130fs	YYCVKFRKGSPDDVEFKSGAGTELS	YYCVKFRKGSPDTWSLSLEQALSCLCALFSRSHTCVPCATNGDVTDCINWGVNHL	6.0	1.0	unscreened	-	4129_20:1559029-1559029 C>-_YYCVKFRKGSPDTWSLSLEQALSCLCALFSRSHTCVPCATNGDVTDCINWGVNHL
12:83526003-83526003 G>T	1.0	4129	LUNG	-	-	-	-	TMTC2	NM_152588,p.L782F|ENST00000549919,p.L776F|uc010suk.2,p.L537F|ENST00000321196,p.L782F|uc001szt.3,p.L782F	retained_intron, protein_coding	uc010suk.2	nonsynonymous SNV	exon11	c.G1611T	p.L537F	LAARLRPNYPAALMNLGAILHLNGR	LAARLRPNYPAAFMNLGAILHLNGR	5.0	7.0	-	-	4129_12:83526003-83526003 G>T_LAARLRPNYPAAFMNLGAILHLNGR
5:140740133-140740133 A>T	1.0	4129	LUNG	-	-	-	-	PCDHGB2	uc011dar.2,p.E144V|ENST00000522605,p.E144V|NM_032096,p.E144V|uc003ljs.2,p.E144V|NM_018923,p.E144V	protein_coding	uc011dar.2	nonsynonymous SNV	exon1	c.A431T	p.E144V	LFKQTKINLKIGESTKPGTTFPLDP	LFKQTKINLKIGVSTKPGTTFPLDP	3.0	8.0	-	-	4129_5:140740133-140740133 A>T_LFKQTKINLKIGVSTKPGTTFPLDP
6:52303267-52303267 C>T	1.0	4129	LUNG	0.0005	-	ID=COSM191268;OCCURENCE=1(large_intestine)	-	EFHC1	ENST00000433625,p.R60C|NM_001172420,p.R132C|uc003pap.4,p.R151C|ENST00000538167,p.R132C|ENST00000480623,p.R151C|NM_018100,p.R151C|ENST00000371068,p.R151C|uc011dww.2,p.R132C|uc011dwv.1,p.R60C	protein_coding, processed_transcript, nonsense_mediated_decay	uc011dww.2	nonsynonymous SNV	exon4	c.C394T	p.R132C	ENSGILQGKLIKRQRLAKNDRGDHY	ENSGILQGKLIKCQRLAKNDRGDHY	6.0	1.0	-	-	4129_6:52303267-52303267 C>T_ENSGILQGKLIKCQRLAKNDRGDHY
13:103443288-103443288 G>A	1.0	4129	LUNG	-	-	-	-	KDELC1	uc001vpq.4,p.P349L|NM_024089,p.P349L|uc001vpr.4,p.P130L|ENST00000376004,p.P349L	protein_coding, processed_transcript	uc001vpr.4	nonsynonymous SNV	exon7	c.C389T	p.P130L	FFFFKHDENLYGPIVKHISFFDFFK	FFFFKHDENLYGLIVKHISFFDFFK	6.0	5.0	-	-	4129_13:103443288-103443288 G>A_FFFFKHDENLYGLIVKHISFFDFFK
19:3525882-3525882 G>A	1.0	4129	LUNG	-	-	-	-	FZR1	uc002lxt.2,p.R29Q|NM_001136198,p.R29Q|ENST00000591290,p.R29Q|ENST00000395095,p.R29Q|ENST00000313639,p.R29Q|uc002lxv.2,p.R29Q|NM_016263,p.R29Q|ENST00000441788,p.R29Q|NM_001136197,p.R29Q|uc010dtk.2,p.R29Q	retained_intron, protein_coding, nonsense_mediated_decay	uc010dtk.2	nonsynonymous SNV	exon2	c.G86A	p.R29Q	NENTMPRVTEMRRTLTPASSPVSSP	NENTMPRVTEMRQTLTPASSPVSSP	8.0	5.0	-	-	4129_19:3525882-3525882 G>A_NENTMPRVTEMRQTLTPASSPVSSP
19:46281432-46281432 G>A	1.0	4129	LUNG	-	-	-	-	DMPK	uc010xxs.1,p.R121C|uc002pdd.1,p.R220C|NM_001081560,p.R210C|NM_001288766,p.R210C|uc002pdh.1,p.R210C|uc002pdg.1,p.R210C|NM_001081562,p.R210C|ENST00000600757,p.R220C|uc002pdi.1,p.R236C|ENST00000291270,p.R210C|NM_001081563,p.R220C|NM_001288765,p.R121C|ENST00000354227,p.R210C|ENST00000458663,p.R210C|NM_001288764,p.R236C|uc002pde.1,p.R220C|uc010xxt.1,p.R210C|ENST00000447742,p.R210C|ENST00000343373,p.R220C|NM_004409,p.R210C|uc002pdf.1,p.R210C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xxt.1	nonsynonymous SNV	exon6	c.C628T	p.R210C	PDNILLDRCGHIRLADFGSCLKLRA	PDNILLDRCGHICLADFGSCLKLRA	8.0	8.0	-	-	4129_19:46281432-46281432 G>A_PDNILLDRCGHICLADFGSCLKLRA
20:1559029-1559029 C>-	0.0	4129	LUNG	-	-	ID=COSM1724829;OCCURENCE=2(NS)	-	SIRPB1	ENST00000262929,p.D129fs|uc002wfk.4,p.D130fs|ENST00000563840,p.D129fs|ENST00000381603,p.D130fs|NM_001083910,p.D130fs	protein_coding, nonsense_mediated_decay, processed_transcript	uc002wfk.4	frameshift deletion	exon2	c.388delG	p.D130fs	YYCVKFRKGSPDDVEFKSGAGTELS	YYCVKFRKGSPDTWSLSLEQALSCLCAKQRWLLLLHSS	6.0	1.0	unscreened	-	4129_20:1559029-1559029 C>-_YYCVKFRKGSPDTWSLSLEQALSCLCAKQRWLLLLHSS
20:1559029-1559029 C>-	0.0	4129	LUNG	-	-	ID=COSM1724829;OCCURENCE=2(NS)	-	SIRPB1	ENST00000567028,p.D129fs	protein_coding, nonsense_mediated_decay, processed_transcript	ENST00000567028	frameshift deletion	exon2	c.385delG	p.D129fs	YYCVKFRKGSPDDVEFKSGAGTELS	YYCVKFRKGSPDTWSLSLEQALSCLCAESHMCSMCNKRRCHRLYQLGSQSS	6.0	1.0	unscreened	-	4129_20:1559029-1559029 C>-_YYCVKFRKGSPDTWSLSLEQALSCLCAESHMCSMCNKRRCHRLYQLGSQSS
12:25398285-25398285 C>A	1.0	4129	LUNG	-	-	ID=COSM1140136,COSM516;OCCURENCE=15(stomach),1(central_nervous_system),8(upper_aerodigestive_tract),2(oesophagus),3(peritoneum),1776(lung),18(thyroid),17(haematopoietic_and_lymphoid_tissue),2(testis),2(cervix),4(gastrointestinal_tract_(site_indeterminate)),13(soft_tissue),34(ovary),38(endometrium),5(skin),11(breast),8(small_intestine),1(kidney),130(pancreas),4(liver),15(urinary_tract),1(adrenal_gland),1476(large_intestine),51(biliary_tract),10(prostate)	1	KRAS	ENST00000256078,p.G12C|uc001rgp.1,p.G12C|NM_033360,p.G12C|NM_004985,p.G12C|ENST00000556131,p.G12C|ENST00000557334,p.G12C|uc001rgq.1,p.G12C|ENST00000311936,p.G12C	protein_coding	uc001rgq.1	nonsynonymous SNV	exon2	c.G34T	p.G12C	MTEYKLVVVGAGGVGKSALTIQLI	MTEYKLVVVGACGVGKSALTIQLI	7.0	8.0	-	-	4129_12:25398285-25398285 C>A_MTEYKLVVVGACGVGKSALTIQLI
9:35062073-35062073 C>A	1.0	4129	LUNG	-	-	-	-	VCP	NM_007126,p.K336N|ENST00000358901,p.K336N|uc010mki.1,p.K291N|uc003zvy.2,p.K336N	retained_intron, protein_coding	uc010mki.1	nonsynonymous SNV	exon9	c.G873T	p.K291N	IVSQLLTLMDGLKQRAHVIVMAATN	IVSQLLTLMDGLNQRAHVIVMAATN	10.0	10.0	-	-	4129_9:35062073-35062073 C>A_IVSQLLTLMDGLNQRAHVIVMAATN
17:7578450-7578450 C>A	1.0	4129	LUNG	-	-	ID=COSM3717666,COSM3717665,COSM1610862,COSM1610861,COSM1610863,COSM1610860,COSM45674;OCCURENCE=2(liver),2(lung)	1	TP53	NM_001276760,p.M121I|NM_001126115,p.M28I|uc010vug.3,p.M121I|NM_001276761,p.M121I|NM_001276696,p.M121I|NM_001126114,p.M160I|NM_001126112,p.M160I|NM_000546,p.M160I|uc031qyq.1,p.M121I|uc002gio.3,p.M28I|ENST00000509690,p.M28I|NM_001276695,p.M121I|ENST00000455263,p.M160I|ENST00000514944,p.M67I|uc002gij.3,p.M121I|ENST00000269305,p.M160I|uc002gih.3,p.M160I|ENST00000445888,p.M160I|NM_001126113,p.M160I|uc002gin.3,p.M67I|NM_001126118,p.M121I|ENST00000359597,p.M160I|ENST00000413465,p.M160I|NM_001126117,p.M28I|uc002gig.1,p.M160I|NM_001126116,p.M28I|ENST00000420246,p.M160I	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon4	c.G363T	p.M121I	DSTPPPGTRVRAMAIYKQSQHMTEV	DSTPPPGTRVRAIAIYKQSQHMTEV	10.0	8.0	unscreened	-	4129_17:7578450-7578450 C>A_DSTPPPGTRVRAIAIYKQSQHMTEV
9:95772594-95772594 C>T	0.0	4129	LUNG	-	-	ID=COSM1463639,COSM1463638;OCCURENCE=1(large_intestine)	-	FGD3	uc004ata.3,p.R105W|NM_033086,p.R302W|ENST00000375482,p.R302W|ENST00000467786,p.R302W|NM_001083536,p.R302W|NM_001286993,p.R302W|ENST00000416701,p.R302W|uc004asz.2,p.R302W|uc004asw.2,p.R302W|ENST00000337352,p.R302W|uc004asx.2,p.R302W	protein_coding, processed_transcript, nonsense_mediated_decay	uc004ata.3	nonsynonymous SNV	exon4	c.C313T	p.R105W	QHHMLEPVQRVPRYELLLKDYLKRL	QHHMLEPVQRVPWYELLLKDYLKRL	5.0	10.0	-	-	4129_9:95772594-95772594 C>T_QHHMLEPVQRVPWYELLLKDYLKRL
7:5103675-5103675 G>T	0.0	4129	LUNG	-	-	-	-	RBAK	uc003sns.1,p.Q196H|uc010kss.1,p.Q196H|NM_021163,p.Q196H|uc031swl.1,p.Q160H|NM_001204456,p.Q196H|ENST00000396912,p.Q196H|ENST00000353796,p.Q196H	retained_intron, protein_coding, processed_transcript	uc031swl.1	nonsynonymous SNV	exon3	c.G480T	p.Q160H	GDTYSHNEENILQKISILEKPFEYN	GDTYSHNEENILHKISILEKPFEYN	7.0	9.0	-	-	4129_7:5103675-5103675 G>T_GDTYSHNEENILHKISILEKPFEYN
9:2838459-2838459 C>A	1.0	4129	LUNG	-	-	-	-	KIAA0020	NM_014878,p.A17S|ENST00000397885,p.A17S|uc003zhq.1,p.A17S|uc003zhp.1,p.A17S	protein_coding, processed_transcript	uc003zhq.1	nonsynonymous SNV	exon2	c.G49T	p.A17S	GKKQFTGKSTKTAQEKNRFHKNSDS	GKKQFTGKSTKTSQEKNRFHKNSDS	9.0	10.0	-	-	4129_9:2838459-2838459 C>A_GKKQFTGKSTKTSQEKNRFHKNSDS
19:36884697-36884697 C>G	0.0	4129	LUNG	-	-	-	-	ZFP82	uc002ody.1,p.R182P|ENST00000392171,p.R182P|ENST00000392161,p.R182P|NM_133466,p.R182P	retained_intron, protein_coding	uc002ody.1	nonsynonymous SNV	exon5	c.G545C	p.R182P	YECKECGKAFRVRQQLTFHHRIHTG	YECKECGKAFRVPQQLTFHHRIHTG	5.0	6.0	-	-	4129_19:36884697-36884697 C>G_YECKECGKAFRVPQQLTFHHRIHTG
X:110968280-110968280 C>T	0.0	4129	LUNG	-	-	-	-	ALG13	NM_001257234,p.P470S|NM_001099922,p.P574S|uc011msz.2,p.P496S|ENST00000251943,p.P470S|ENST00000394780,p.P574S|uc011msy.2,p.P574S|uc011mtb.2,p.P470S|uc011msx.2,p.P470S|uc011mta.2,p.P470S|NM_001257230,p.P470S|NM_001257231,p.P496S|ENST00000436609,p.P207S|NM_001257237,p.P470S	protein_coding, processed_transcript	uc011mtb.2	nonsynonymous SNV	exon15	c.C1408T	p.P470S	GRGYQKMPGGYVPEIVISEMDIKQQ	GRGYQKMPGGYVSEIVISEMDIKQQ	8.0	9.0	unscreened	-	4129_X:110968280-110968280 C>T_GRGYQKMPGGYVSEIVISEMDIKQQ
19:17115116-17115116 C>A	1.0	4129	LUNG	-	-	-	-	CPAMD8	ENST00000291440,p.A261S|ENST00000443236,p.A261S|ENST00000388925,p.A214S|uc002nfb.3,p.A261S|NM_015692,p.A261S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nfb.3	nonsynonymous SNV	exon8	c.G781T	p.A261S	GEWFIFVEMQGHAYNKSFEVQKYVL	GEWFIFVEMQGHSYNKSFEVQKYVL	4.0	9.0	-	-	4129_19:17115116-17115116 C>A_GEWFIFVEMQGHSYNKSFEVQKYVL
X:110968281-110968281 C>T	0.0	4129	LUNG	-	-	-	-	ALG13	ENST00000251943,p.P470L|uc011msy.2,p.P574L|ENST00000436609,p.P207L|ENST00000394780,p.P574L|NM_001257230,p.P470L|NM_001257234,p.P470L|uc011mtb.2,p.P470L|NM_001099922,p.P574L|NM_001257237,p.P470L|uc011msx.2,p.P470L|uc011mta.2,p.P470L|NM_001257231,p.P496L|uc011msz.2,p.P496L	protein_coding, processed_transcript	uc011mtb.2	nonsynonymous SNV	exon15	c.C1409T	p.P470L	GRGYQKMPGGYVPEIVISEMDIKQQ	GRGYQKMPGGYVLEIVISEMDIKQQ	8.0	9.0	unscreened	-	4129_X:110968281-110968281 C>T_GRGYQKMPGGYVLEIVISEMDIKQQ
6:114181210-114181210 A>-	0.0	4129	LUNG	-	-	ID=COSM298003;OCCURENCE=1(liver),1(large_intestine)	-	MARCKS	uc003pvy.4,p.K152fs|ENST00000368635,p.K152fs|NM_002356,p.K152fs	protein_coding	uc003pvy.4	frameshift deletion	exon2	c.454delA	p.K152fs	DGATPSPSNETPKKKKKRFSFKKSF	DGATPSPSNETPKKKRSAFPSRSLSS	9.0	1.0	unscreened	-	4129_6:114181210-114181210 A>-_DGATPSPSNETPKKKRSAFPSRSLSS
X:47444765-47444765 A>T	0.0	4129	LUNG	-	-	-	-	SYN1,TIMP1	uc011mlr.1,p.N45I|uc010nht.1,p.N45I|ENST00000377018,p.N45I	protein_coding	uc011mlr.1	nonsynonymous SNV	exon3	c.A134T	p.N45I	LVRHRPRALCHTNQSLGRGLATTRG	LVRHRPRALCHTIQSLGRGLATTRG	10.0	9.0	unscreened	-	4129_X:47444765-47444765 A>T_LVRHRPRALCHTIQSLGRGLATTRG
8:113420577-113420577 T>A	0.0	4129	LUNG	-	-	-	2	CSMD3	NM_052900,p.T1755S|ENST00000455883,p.T1755S|uc011lhx.2,p.T1755S|NM_198123,p.T1859S|uc003ynu.3,p.T1859S|uc003ynt.3,p.T1819S|ENST00000343508,p.T1819S|ENST00000297405,p.T1859S|NM_198124,p.T1819S	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon33	c.A5263T	p.T1755S	QITIRFTSVGPITAKGFHFVYQAVP	QITIRFTSVGPISAKGFHFVYQAVP	1.0	3.0	unscreened	-	4129_8:113420577-113420577 T>A_QITIRFTSVGPISAKGFHFVYQAVP
13:46708375-46708375 T>G	0.0	4129	LUNG	-	-	-	2	LCP1	ENST00000323076,p.N505H|uc001vay.4,p.N102H|ENST00000398576,p.N505H|NM_002298,p.N505H|ENST00000435666,p.N74H|uc010ack.3,p.N74H|uc001vba.4,p.N505H|uc001vaz.4,p.N505H	protein_coding, processed_transcript	uc010ack.3	nonsynonymous SNV	exon3	c.A220C	p.N74H	ALIWQLMRRYTLNILEEIGGGQKVN	ALIWQLMRRYTLHILEEIGGGQKVN	9.0	4.0	-	-	4129_13:46708375-46708375 T>G_ALIWQLMRRYTLHILEEIGGGQKVN
6:110768129-110768129 C>G	0.0	4129	LUNG	-	-	-	-	SLC22A16	ENST00000330550,p.A166P|ENST00000451557,p.A117P|ENST00000439654,p.A200P|ENST00000437378,p.A157P|NM_033125,p.A200P|ENST00000424139,p.A157P|ENST00000368919,p.A200P|uc003pue.3,p.A181P|ENST00000434949,p.A30P|uc003puf.3,p.A200P	protein_coding, processed_transcript	uc003puf.3	nonsynonymous SNV	exon3	c.G598C	p.A200P	TSSSMFLFGIAAAFAVDYYTFMAAR	TSSSMFLFGIAAPFAVDYYTFMAAR	2.0	10.0	-	-	4129_6:110768129-110768129 C>G_TSSSMFLFGIAAPFAVDYYTFMAAR
12:88420308-88420308 G>T	0.0	4129	LUNG	-	-	-	-	C12orf50	uc001tam.1,p.S30R|uc001tan.3,p.S84R|ENST00000298699,p.S30R|ENST00000550553,p.S30R|NM_152589,p.S30R|ENST00000551163,p.S30R	protein_coding, processed_transcript	uc001tan.3	nonsynonymous SNV	exon3	c.C252A	p.S84R	LGCVKISCIFYHSKPRNINGLFLPP	LGCVKISCIFYHRKPRNINGLFLPP	1.0	1.0	unscreened	-	4129_12:88420308-88420308 G>T_LGCVKISCIFYHRKPRNINGLFLPP
21:45539291-45539291 G>A	1.0	4129	LUNG	-	-	-	-	PWP2	NM_005049,p.E359K|ENST00000291576,p.E359K|uc002zeb.3,p.E359K	retained_intron, protein_coding, processed_transcript	uc002zeb.3	nonsynonymous SNV	exon10	c.G1075A	p.E359K	FGCSGLGQLLVWEWQSESYVLKQQG	FGCSGLGQLLVWKWQSESYVLKQQG	8.0	7.0	-	-	4129_21:45539291-45539291 G>A_FGCSGLGQLLVWKWQSESYVLKQQG
2:113089098-113089098 T>C	0.0	4129	LUNG	-	-	-	-	ZC3H6	ENST00000409871,p.L868P|NM_198581,p.L868P|ENST00000343936,p.L868P|uc002thq.1,p.L868P	retained_intron, protein_coding	uc002thq.1	nonsynonymous SNV	exon12	c.T2603C	p.L868P	LRQFSHIKMDITLTKPNFAKHIVWA	LRQFSHIKMDITPTKPNFAKHIVWA	6.0	6.0	-	-	4129_2:113089098-113089098 T>C_LRQFSHIKMDITPTKPNFAKHIVWA
1:93170257-93170257 G>A	0.0	4129	LUNG	-	-	-	-	EVI5	uc001dox.3,p.S109L|ENST00000543509,p.S109L|ENST00000540033,p.S109L|ENST00000370331,p.S109L|NM_005665,p.S109L|uc010otf.2,p.S109L	protein_coding, processed_transcript	uc010otf.2	nonsynonymous SNV	exon3	c.C326T	p.S109L	ETDSKSLRSVNGSRRNSGSSLVSSS	ETDSKSLRSVNGLRRNSGSSLVSSS	6.0	1.0	unscreened	-	4129_1:93170257-93170257 G>A_ETDSKSLRSVNGLRRNSGSSLVSSS
6:31779566-31779566 C>A	0.0	4129	LUNG	-	-	-	-	HSPA1L	ENST00000417199,p.A62S|NM_005527,p.A62S|uc021yuz.1,p.A62S|uc010jte.3,p.A62S|uc003nxh.3,p.A62S|ENST00000375654,p.A62S	protein_coding	uc021yuz.1	nonsynonymous SNV	exon1	c.G184T	p.A62S	ERLIGDAAKNQVAMNPQNTVFDAKR	ERLIGDAAKNQVSMNPQNTVFDAKR	5.0	7.0	-	-	4129_6:31779566-31779566 C>A_ERLIGDAAKNQVSMNPQNTVFDAKR
4:187539723-187539723 C>A	1.0	4129	LUNG	-	-	-	1	FAT1	NM_005245,p.V2673F|uc003izf.3,p.V2673F|ENST00000441802,p.V2673F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003izf.3	nonsynonymous SNV	exon10	c.G8017T	p.V2673F	LIGLENEFFTFFVRAVDNGSPSKES	LIGLENEFFTFFFRAVDNGSPSKES	10.0	8.0	-	-	4129_4:187539723-187539723 C>A_LIGLENEFFTFFFRAVDNGSPSKES
3:52537427-52537427 G>T	0.0	4129	LUNG	-	-	-	-	STAB1	uc003dei.1,p.Q254H|ENST00000321725,p.Q254H|NM_015136,p.Q254H|uc003dej.3,p.Q254H	retained_intron, protein_coding	uc003dej.3	nonsynonymous SNV	exon8	c.G762T	p.Q254H	SLLAQCSVSPKGQAQCHCPENYHGD	SLLAQCSVSPKGHAQCHCPENYHGD	9.0	10.0	-	-	4129_3:52537427-52537427 G>T_SLLAQCSVSPKGHAQCHCPENYHGD
5:156378678-156378678 G>T	0.0	4129	LUNG	-	-	-	-	TIMD4	ENST00000407087,p.P175H|ENST00000274532,p.P175H|uc003lwh.2,p.P175H|NM_138379,p.P175H|NM_001146726,p.P175H|uc010jii.2,p.P175H	protein_coding	uc010jii.2	nonsynonymous SNV	exon3	c.C524A	p.P175H	TPAALPTTVVTTPDLTTGTPLQMTT	TPAALPTTVVTTHDLTTGTPLQMTT	6.0	6.0	unscreened	-	4129_5:156378678-156378678 G>T_TPAALPTTVVTTHDLTTGTPLQMTT
17:34391748-34391748 G>T	0.0	4129	LUNG	-	-	-	-	CCL18	uc002hku.3,p.A16S|NM_002988,p.A16S|ENST00000004921,p.A16S	retained_intron, protein_coding	uc002hku.3	nonsynonymous SNV	exon1	c.G46T	p.A16S	LAAALLVLVCTMALCSCAQVGTNKE	LAAALLVLVCTMSLCSCAQVGTNKE	9.0	3.0	unscreened	-	4129_17:34391748-34391748 G>T_LAAALLVLVCTMSLCSCAQVGTNKE
X:54028671-54028671 A>T	0.0	4129	LUNG	-	-	-	-	PHF8	NM_001184897,p.L353Q|uc004dsy.3,p.L353Q|uc004dsu.3,p.L389Q|ENST00000413386,p.L65Q|NM_001184896,p.L389Q|ENST00000357988,p.L389Q|ENST00000322659,p.L353Q|ENST00000338946,p.L353Q|uc004dsx.3,p.L117Q|uc004dsv.3,p.L219Q|NM_015107,p.L353Q|uc004dsw.3,p.L353Q|uc004dst.3,p.L353Q|NM_001184898,p.L353Q|ENST00000338154,p.L353Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004dsy.3	nonsynonymous SNV	exon10	c.T1058A	p.L353Q	EMQLKAYEIEKRLSTADLFRFPNFE	EMQLKAYEIEKRQSTADLFRFPNFE	6.0	10.0	-	-	4129_X:54028671-54028671 A>T_EMQLKAYEIEKRQSTADLFRFPNFE
7:77797313-77797313 C>T	0.0	4129	LUNG	-	-	-	-	MAGI2	uc010ldx.1,p.R432H|ENST00000522391,p.R839H|uc003ugy.3,p.R825H|NM_001301128,p.R825H|ENST00000354212,p.R839H|uc003ugx.3,p.R839H|NM_012301,p.R839H|ENST00000419488,p.R825H	retained_intron, protein_coding, processed_transcript	uc010ldx.1	nonsynonymous SNV	exon10	c.G1295A	p.R432H	YVDGIPVAGKTHRYVIDLMHHAARN	YVDGIPVAGKTHHYVIDLMHHAARN	3.0	8.0	-	-	4129_7:77797313-77797313 C>T_YVDGIPVAGKTHHYVIDLMHHAARN
19:39760589-39760589 T>A	0.0	4129	LUNG	-	-	-	-	IFNL2	NM_172138,p.F180Y|ENST00000331982,p.F180Y|uc002oku.1,p.F180Y	protein_coding	uc002oku.1	nonsynonymous SNV	exon6	c.T539A	p.F180Y	KESPGCLEASVTFNLFRLLTRDLNC	KESPGCLEASVTYNLFRLLTRDLNC	2.0	3.0	unscreened	-	4129_19:39760589-39760589 T>A_KESPGCLEASVTYNLFRLLTRDLNC
1:75139189-75139189 G>T	0.0	4129	LUNG	-	-	-	-	ERICH3	NM_001002912,p.H5Q|ENST00000326665,p.H5Q|uc001dgg.3,p.H5Q	protein_coding, processed_transcript	uc001dgg.3	nonsynonymous SNV	exon1	c.C15A	p.H5Q	MSHSHPAGLLAAYNSLM	MSHSQPAGLLAAYNSLM	1.0	8.0	unscreened	-	4129_1:75139189-75139189 G>T_MSHSQPAGLLAAYNSLM
5:140181495-140181495 ->CGC	0.0	4129	LUNG	-	-	-	-	PCDHA3	ENST00000522353,p.N238delinsNA|uc003lhf.2,p.N238delinsNA|ENST00000532566,p.N238delinsNA|NM_018906,p.N238delinsNA|NM_031497,p.N238delinsNA|uc011czz.2,p.N238delinsNA	protein_coding	uc011czz.2	nonframeshift insertion	exon1	c.713_714insCGC	p.N238delinsNA	TQLKITVLDVNDNAPAFERTIYKVR	TQLKITVLDVNDNAAPAFERTIYKV	1.0	5.0	-	-	4129_5:140181495-140181495 ->CGC_TQLKITVLDVNDNAAPAFERTIYKV
8:113331166-113331166 C>A	0.0	4129	LUNG	-	-	-	2	CSMD3	NM_198124,p.R2380S|uc003ynu.3,p.R2420S|uc011lhx.2,p.R2316S|NM_198123,p.R2420S|uc003ynt.3,p.R2380S|ENST00000343508,p.R2380S|NM_052900,p.R2316S|uc003ynw.1,p.R131S|ENST00000455883,p.R2316S|ENST00000352409,p.R2350S|uc003yns.3,p.R1622S|ENST00000297405,p.R2420S|ENST00000339701,p.R1690S	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon46	c.G6948T	p.R2316S	TEDDEFEIGDIIRYQCLPGFTLVGN	TEDDEFEIGDIISYQCLPGFTLVGN	1.0	2.0	unscreened	-	4129_8:113331166-113331166 C>A_TEDDEFEIGDIISYQCLPGFTLVGN
1:232650508-232650508 C>G	1.0	4129	LUNG	-	-	-	-	SIPA1L2	ENST00000366630,p.G193A|ENST00000262861,p.G193A|uc001hvg.3,p.G193A|NM_020808,p.G193A	protein_coding, processed_transcript	uc001hvg.3	nonsynonymous SNV	exon1	c.G578C	p.G193A	NPNTGAALHREYGSTSSIDRQGLSG	NPNTGAALHREYASTSSIDRQGLSG	7.0	2.0	-	-	4129_1:232650508-232650508 C>G_NPNTGAALHREYASTSSIDRQGLSG
12:78444626-78444626 C>A	0.0	4129	LUNG	-	-	-	-	NAV3	ENST00000536525,p.P739T|uc010sub.2,p.P239T|uc001syp.3,p.P739T|ENST00000266692,p.P739T|NM_014903,p.P739T|ENST00000397909,p.P739T|NM_001024383,p.P739T|uc001syo.3,p.P739T|ENST00000228327,p.P739T	retained_intron, protein_coding, processed_transcript	uc010sub.2	nonsynonymous SNV	exon3	c.C715A	p.P239T	GRTIPNLTSRPTPMTWRLGQACPRL	GRTIPNLTSRPTTMTWRLGQACPRL	4.0	5.0	unscreened	-	4129_12:78444626-78444626 C>A_GRTIPNLTSRPTTMTWRLGQACPRL
8:105263267-105263267 T>C	0.0	4129	LUNG	-	-	-	-	RIMS2	NM_001282882,p.V172A|uc003yls.3,p.V1254A|uc003ylr.3,p.V1075A|NM_001282881,p.V1075A|uc003ylq.3,p.V1050A|ENST00000339750,p.V172A|uc003ylp.3,p.V1236A|NM_014677,p.V1050A|ENST00000507740,p.V1050A|ENST00000262231,p.V1075A|NM_001100117,p.V1236A|ENST00000436393,p.V1254A|ENST00000406091,p.V1236A|ENST00000523362,p.V172A|uc003ylw.2,p.V1243A	retained_intron, protein_coding, processed_transcript	uc003ylw.2	nonsynonymous SNV	exon26	c.T3728C	p.V1243A	PGSKTLPAPYVKVYLLDNGVCIAKK	PGSKTLPAPYVKAYLLDNGVCIAKK	1.0	3.0	unscreened	-	4129_8:105263267-105263267 T>C_PGSKTLPAPYVKAYLLDNGVCIAKK
11:113286276-113286276 G>A	0.0	4129	LUNG	-	-	-	-	DRD2	uc010rwv.2,p.S196F|ENST00000362072,p.S197F|ENST00000346454,p.S197F|ENST00000542968,p.S197F|ENST00000355319,p.S197F|NM_000795,p.S197F|NM_016574,p.S197F|ENST00000538967,p.S197F|uc001pob.4,p.S197F|ENST00000544518,p.S196F|uc009yyr.1,p.S197F|uc001pnz.3,p.S197F|uc001poa.4,p.S197F	retained_intron, protein_coding, processed_transcript	uc010rwv.2	nonsynonymous SNV	exon4	c.C587T	p.S196F	ANPAFVVYSSIVSFYVPFIVTLLVY	ANPAFVVYSSIVFFYVPFIVTLLVY	1.0	1.0	unscreened	-	4129_11:113286276-113286276 G>A_ANPAFVVYSSIVFFYVPFIVTLLVY
1:98060628-98060628 T>A	1.0	4129	LUNG	-	-	-	-	DPYD	uc001drv.3,p.K315N|ENST00000370192,p.K315N|NM_000110,p.K315N	protein_coding, processed_transcript	uc001drv.3	nonsynonymous SNV	exon9	c.A945T	p.K315N	FYTSKDFLPLVAKGSKAGMCACHSP	FYTSKDFLPLVANGSKAGMCACHSP	6.0	7.0	-	-	4129_1:98060628-98060628 T>A_FYTSKDFLPLVANGSKAGMCACHSP
19:23543832-23543832 C>A	0.0	4129	LUNG	-	-	ID=COSM1589985,COSM183397;OCCURENCE=2(large_intestine),1(endometrium)	-	ZNF91	ENST00000300619,p.R650I|uc010xrj.2,p.R618I|NM_001300951,p.R618I|NM_003430,p.R650I|uc002nre.3,p.R650I|ENST00000397082,p.R618I	retained_intron, protein_coding, processed_transcript	uc010xrj.2	nonsynonymous SNV	exon3	c.G1853T	p.R618I	AFSHSSALAKHKRIHTGEKPYKCKE	AFSHSSALAKHKIIHTGEKPYKCKE	7.0	2.0	unscreened	-	4129_19:23543832-23543832 C>A_AFSHSSALAKHKIIHTGEKPYKCKE
1:158368919-158368919 C>A	0.0	4129	LUNG	-	-	-	-	OR10T2	NM_001004475,p.C113F|uc010pih.2,p.C113F|ENST00000334438,p.C113F	protein_coding	uc010pih.2	nonsynonymous SNV	exon1	c.G338T	p.C113F	QLFFFLGFACTNCLLIAVMGYDRYV	QLFFFLGFACTNFLLIAVMGYDRYV	1.0	10.0	unscreened	-	4129_1:158368919-158368919 C>A_QLFFFLGFACTNFLLIAVMGYDRYV
6:47847604-47847604 T>C	0.0	4129	LUNG	-	-	-	-	PTCHD4	uc011dwm.2,p.K326E|uc011dwn.2,p.K73E|ENST00000339488,p.K326E|NM_001013732,p.K326E	protein_coding	uc011dwn.2	nonsynonymous SNV	exon3	c.A217G	p.K73E	SGWRRTKENLPFKDRIADAYSDVMV	SGWRRTKENLPFEDRIADAYSDVMV	1.0	5.0	unscreened	-	4129_6:47847604-47847604 T>C_SGWRRTKENLPFEDRIADAYSDVMV
22:37603030-37603030 C>A	0.0	4129	LUNG	-	-	-	-	SSTR3	NM_001278687,p.M271I|NM_001051,p.M271I|ENST00000402501,p.M271I|uc021wos.1,p.M271I|uc003arb.3,p.M271I|ENST00000328544,p.M271I|uc003ara.3,p.M271I	protein_coding	uc021wos.1	nonsynonymous SNV	exon1	c.G813T	p.M271I	VVAVVALFVLCWMPFYVLNIVNVVC	VVAVVALFVLCWIPFYVLNIVNVVC	1.0	10.0	-	-	4129_22:37603030-37603030 C>A_VVAVVALFVLCWIPFYVLNIVNVVC
8:2944755-2944755 C>A	0.0	4129	LUNG	-	-	-	-	CSMD1	uc022aqr.1,p.R2446S|ENST00000602723,p.R2447S|uc011kwj.2,p.R1776S|ENST00000520002,p.R2447S|NM_033225,p.R2446S|uc010lrg.3,p.R515S|ENST00000542608,p.R2446S|ENST00000602557,p.R2447S|ENST00000537824,p.R2446S|ENST00000400186,p.R2447S	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon49	c.G7338T	p.R2446S	LTHPLKNGGILNRTAGAVGSKVHYF	LTHPLKNGGILNSTAGAVGSKVHYF	1.0	9.0	unscreened	-	4129_8:2944755-2944755 C>A_LTHPLKNGGILNSTAGAVGSKVHYF
12:51857495-51857495 G>T	0.0	4129	LUNG	-	-	-	-	SLC4A8	uc010snj.2,p.G476V|uc010sni.3,p.G396V|NM_001258401,p.G396V|ENST00000514353,p.G396V|uc001ryq.4,p.G449V|ENST00000394856,p.G396V|NM_001258403,p.G396V|uc001rys.2,p.G449V|NM_001258402,p.G449V|NM_001039960,p.G449V|ENST00000453097,p.G449V|ENST00000358657,p.G476V|uc010snk.2,p.G396V|uc001ryv.4,p.G396V|uc001ryr.3,p.G449V|ENST00000535225,p.G396V|uc001ryn.4,p.G396V|uc001rym.4,p.G396V|NM_001267615,p.G396V	retained_intron, protein_coding, processed_transcript	uc010snk.2	nonsynonymous SNV	exon11	c.G1187T	p.G396V	HGGHSGPELQRTGRLFGGLVLDIKR	HGGHSGPELQRTVRLFGGLVLDIKR	5.0	5.0	unscreened	-	4129_12:51857495-51857495 G>T_HGGHSGPELQRTVRLFGGLVLDIKR
7:77325860-77325860 C>A	0.0	4129	LUNG	-	-	-	-	RSBN1L	ENST00000334955,p.P25Q|NM_198467,p.P25Q|uc010ldt.1,p.P25Q	retained_intron, protein_coding	uc010ldt.1	nonsynonymous SNV	exon1	c.C74A	p.P25Q	AAAPTATVSEKEPFGKLQLSSRDPP	AAAPTATVSEKEQFGKLQLSSRDPP	7.0	3.0	-	-	4129_7:77325860-77325860 C>A_AAAPTATVSEKEQFGKLQLSSRDPP
X:27765295-27765295 A>C	0.0	4129	LUNG	-	-	-	-	DCAF8L2	ENST00000451261,p.M95L|uc011mjy.2,p.M95L|NM_001136533,p.M95L	protein_coding, processed_transcript	uc011mjy.2	nonsynonymous SNV	exon1	c.A283C	p.M95L	ELESLEDFEHFLMSGESLFHYPLVG	ELESLEDFEHFLLSGESLFHYPLVG	1.0	8.0	unscreened	-	4129_X:27765295-27765295 A>C_ELESLEDFEHFLLSGESLFHYPLVG
11:58491903-58491903 G>T	0.0	4129	LUNG	-	-	-	-	GLYAT	ENST00000529732,p.P23T|uc001nnc.3,p.P23T|ENST00000344743,p.P23T|ENST00000278400,p.P23T|NM_005838,p.P23T|uc001nnb.3,p.P23T|NM_201648,p.P23T	retained_intron, protein_coding	uc001nnc.3	nonsynonymous SNV	exon2	c.C67A	p.P23T	LQMLEKSLRKSLPASLKVYGTVFHI	LQMLEKSLRKSLTASLKVYGTVFHI	1.0	8.0	-	-	4129_11:58491903-58491903 G>T_LQMLEKSLRKSLTASLKVYGTVFHI
16:77822741-77822741 C>A	0.0	4129	LUNG	-	-	-	-	VAT1L	NM_020927,p.N54K|uc002ffg.1,p.N54K|ENST00000302536,p.N54K	protein_coding, processed_transcript	uc002ffg.1	nonsynonymous SNV	exon1	c.C162A	p.N54K	MRAVVLAGFGGLNKLRLFRKAMPEP	MRAVVLAGFGGLKKLRLFRKAMPEP	2.0	9.0	unscreened	-	4129_16:77822741-77822741 C>A_MRAVVLAGFGGLKKLRLFRKAMPEP
11:55703809-55703809 G>C	0.0	4129	LUNG	-	-	-	-	OR5I1	uc010ris.2,p.P23R|ENST00000301532,p.P23R|NM_006637,p.P23R	protein_coding	uc010ris.2	nonsynonymous SNV	exon1	c.C68G	p.P23R	VTEFILLGFPTRPELQIVLFLMFLT	VTEFILLGFPTRRELQIVLFLMFLT	1.0	5.0	-	-	4129_11:55703809-55703809 G>C_VTEFILLGFPTRRELQIVLFLMFLT
10:101557033-101557033 C>G	1.0	4129	LUNG	-	-	-	-	ABCC2	ENST00000370449,p.A271G|uc001kqf.2,p.A271G|NM_000392,p.A271G|ENST00000370434,p.A271G	protein_coding, processed_transcript	uc001kqf.2	nonsynonymous SNV	exon7	c.C812G	p.A271G	RRQEKSSQQNSGARLPGLNKNQSQS	RRQEKSSQQNSGGRLPGLNKNQSQS	9.0	4.0	-	-	4129_10:101557033-101557033 C>G_RRQEKSSQQNSGGRLPGLNKNQSQS
4:88035808-88035808 G>C	0.0	4129	LUNG	-	-	-	1	AFF1	uc003hqj.4,p.G601A|ENST00000395146,p.G608A|uc011cda.2,p.G239A|uc011ccz.2,p.G608A|ENST00000544085,p.G239A|uc003hqk.4,p.G601A|NM_005935,p.G601A|ENST00000307808,p.G601A|NM_001166693,p.G608A	retained_intron, protein_coding, processed_transcript	uc011cda.2	nonsynonymous SNV	exon9	c.G716C	p.G239A	PAQQEPPQRQTVGTKQPKKPVKASA	PAQQEPPQRQTVATKQPKKPVKASA	7.0	1.0	unscreened	-	4129_4:88035808-88035808 G>C_PAQQEPPQRQTVATKQPKKPVKASA
3:126219585-126219585 G>T	0.0	4129	LUNG	-	-	-	-	UROC1	ENST00000290868,p.S366R|uc010hsi.2,p.S426R|ENST00000383579,p.S426R|uc003eiz.2,p.S366R|NM_144639,p.S366R|NM_001165974,p.S426R	protein_coding	uc010hsi.2	nonsynonymous SNV	exon12	c.C1278A	p.S426R	YYPVQLSFTEAQSLMASNPAVFKDL	YYPVQLSFTEAQRLMASNPAVFKDL	1.0	8.0	unscreened	-	4129_3:126219585-126219585 G>T_YYPVQLSFTEAQRLMASNPAVFKDL
X:48375575-48375575 T>A	0.0	4129	LUNG	-	-	-	-	PORCN	ENST00000537758,p.L393Q|uc004dju.1,p.L251Q|NM_022825,p.L382Q|ENST00000367574,p.L311Q|ENST00000361988,p.L382Q|uc010nie.1,p.L393Q|ENST00000359882,p.L387Q|ENST00000355961,p.L388Q|NM_203474,p.L387Q|uc004djv.1,p.L393Q|uc004djr.1,p.L388Q|uc004djs.1,p.L382Q|uc004djw.1,p.L387Q|ENST00000326194,p.L393Q|NM_203473,p.L388Q|NM_001282167,p.L311Q|NM_203475,p.L393Q|uc011mlx.1,p.L311Q|ENST00000355092,p.L387Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011mlx.1	nonsynonymous SNV	exon12	c.T932A	p.L311Q	CPPDCSHQHRLGLGVRALNLLFGAL	CPPDCSHQHRLGQGVRALNLLFGAL	8.0	5.0	unscreened	-	4129_X:48375575-48375575 T>A_CPPDCSHQHRLGQGVRALNLLFGAL
13:103389769-103389769 C>A	0.0	4129	LUNG	-	-	-	-	CCDC168	NM_001146197,p.Q4426H|uc001vpm.3,p.Q4426H	protein_coding	uc001vpm.3	nonsynonymous SNV	exon4	c.G13278T	p.Q4426H	TEQEKRDGHKSKQETVLFLHLPSES	TEQEKRDGHKSKHETVLFLHLPSES	1.0	7.0	-	-	4129_13:103389769-103389769 C>A_TEQEKRDGHKSKHETVLFLHLPSES
7:126409966-126409966 A>G	0.0	4129	LUNG	-	-	-	-	GRM8	ENST00000341617,p.I437T|ENST00000472701,p.I437T|ENST00000444921,p.I437T|NM_000845,p.I437T|uc003vlt.2,p.I437T|ENST00000358373,p.I437T|NM_001127323,p.I437T|ENST00000339582,p.I437T|uc003vlr.2,p.I437T|ENST00000405249,p.I437T|uc003vlu.1,p.I158T	protein_coding, processed_transcript, nonsense_mediated_decay	uc003vlu.1	nonsynonymous SNV	exon7	c.T473C	p.I158T	PGYIGLCPRMSTIDGKELLGYIRAV	PGYIGLCPRMSTTDGKELLGYIRAV	2.0	4.0	unscreened	-	4129_7:126409966-126409966 A>G_PGYIGLCPRMSTTDGKELLGYIRAV
2:113675224-113675224 C>T	0.0	4129	LUNG	-	-	-	-	IL37	ENST00000352179,p.A72V|uc002tik.3,p.A72V|uc002tij.3,p.A93V|ENST00000311328,p.A67V|uc002tin.3,p.A67V|NM_173202,p.A72V|NM_173205,p.A67V|ENST00000263326,p.A93V|NM_014439,p.A93V	protein_coding	uc002tin.3	nonsynonymous SNV	exon3	c.C200T	p.A67V	PDKNYIRPEIFFALASSLSSASAEK	PDKNYIRPEIFFVLASSLSSASAEK	1.0	3.0	unscreened	-	4129_2:113675224-113675224 C>T_PDKNYIRPEIFFVLASSLSSASAEK
9:79318741-79318741 G>T	0.0	4129	LUNG	-	-	-	-	PRUNE2	NM_015225,p.D2596E|uc022bih.1,p.D2418E|uc004akj.4,p.D49E|ENST00000376718,p.D2596E|uc010mpl.1,p.D49E|ENST00000428286,p.D2237E|uc010mpk.3,p.D2596E	protein_coding, processed_transcript	uc022bih.1	nonsynonymous SNV	exon8	c.C7254A	p.D2418E	TGLQGTQLASFPDTCQPASLNERKG	TGLQGTQLASFPETCQPASLNERKG	4.0	10.0	-	-	4129_9:79318741-79318741 G>T_TGLQGTQLASFPETCQPASLNERKG
15:83926220-83926220 C>T	1.0	4129	LUNG	-	-	-	-	BNC1	NM_001301206,p.A980T|ENST00000345382,p.A987T|uc002bjt.1,p.A987T|NM_001717,p.A987T|uc010uos.1,p.A975T|ENST00000569704,p.A980T	protein_coding	uc010uos.1	nonsynonymous SNV	exon5	c.G2923A	p.A975T	RHSQNPNLHKSLASSPSHLQ	RHSQNPNLHKSLTSSPSHLQ	9.0	4.0	-	-	4129_15:83926220-83926220 C>T_RHSQNPNLHKSLTSSPSHLQ
18:24035813-24035813 C>A	1.0	4129	LUNG	-	-	-	-	KCTD1	NM_001136205,p.G223V|NM_001142730,p.G831V|ENST00000579973,p.G223V|NM_198991,p.G223V|ENST00000580059,p.G223V|ENST00000408011,p.G223V|uc010xbk.3,p.G223V|uc031rhu.1,p.G231V|ENST00000417602,p.G831V|uc010xbj.3,p.G831V|NM_001258221,p.G223V|ENST00000580191,p.G231V|uc002kvw.4,p.G223V|ENST00000317932,p.G223V|NM_001258222,p.G231V|uc031rht.1,p.G223V	retained_intron, protein_coding, processed_transcript	uc031rhu.1	nonsynonymous SNV	exon5	c.G692T	p.G231V	QQRGFEIVGSCGGGVDSSQFSEYVL	QQRGFEIVGSCGVGVDSSQFSEYVL	7.0	8.0	-	-	4129_18:24035813-24035813 C>A_QQRGFEIVGSCGVGVDSSQFSEYVL
2:33359928-33359928 G>T	0.0	4129	LUNG	-	-	ID=COSM1649796,COSM574849;OCCURENCE=1(lung)	-	LTBP1	ENST00000404816,p.G368C|uc021vft.1,p.G368C|uc010ymz.2,p.G42C|uc010yna.2,p.G42C|uc002rov.3,p.G42C|NM_000627,p.G42C|ENST00000418533,p.G42C|ENST00000404525,p.G42C|ENST00000354476,p.G368C|NM_206943,p.G368C|NM_001166264,p.G42C|ENST00000390003,p.G42C|NM_001166265,p.G42C|ENST00000407925,p.G42C|NM_001166266,p.G42C|ENST00000402934,p.G42C|uc002rou.3,p.G42C	protein_coding, processed_transcript	uc021vft.1	nonsynonymous SNV	exon5	c.G1102T	p.G368C	FTPSICKVTCTKGSCQNSCEKGNTT	FTPSICKVTCTKCSCQNSCEKGNTT	8.0	8.0	-	-	4129_2:33359928-33359928 G>T_FTPSICKVTCTKCSCQNSCEKGNTT
17:34391747-34391747 G>T	0.0	4129	LUNG	-	-	-	-	CCL18	ENST00000004921,p.M15I|uc002hku.3,p.M15I|NM_002988,p.M15I	retained_intron, protein_coding	uc002hku.3	nonsynonymous SNV	exon1	c.G45T	p.M15I	GLAAALLVLVCTMALCSCAQVGTNK	GLAAALLVLVCTIALCSCAQVGTNK	9.0	3.0	unscreened	-	4129_17:34391747-34391747 G>T_GLAAALLVLVCTIALCSCAQVGTNK
5:140482460-140482460 G>A	0.0	4129	LUNG	-	-	-	-	PCDHB3	NM_018937,p.G743R|uc003lio.3,p.G743R|ENST00000231130,p.G743R	protein_coding	uc003lio.3	nonsynonymous SNV	exon1	c.G2227A	p.G743R	PFPGQMVDVSGTGTLSQSYQYEVCL	PFPGQMVDVSGTRTLSQSYQYEVCL	4.0	4.0	unscreened	-	4129_5:140482460-140482460 G>A_PFPGQMVDVSGTRTLSQSYQYEVCL
4:91230225-91230225 A>C	0.0	4129	LUNG	-	-	-	-	CCSER1	ENST00000509176,p.T264P|ENST00000505073,p.T264P|uc003hsu.3,p.T264P|NM_207491,p.T264P|uc003hsv.4,p.T264P|ENST00000432775,p.T264P|uc003hsw.3,p.T264P|NM_001145065,p.T264P|ENST00000333691,p.T264P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003hsw.3	nonsynonymous SNV	exon2	c.A790C	p.T264P	TTAQTPSEFLALTEDSVSEMDAFSK	TTAQTPSEFLALPEDSVSEMDAFSK	2.0	8.0	unscreened	-	4129_4:91230225-91230225 A>C_TTAQTPSEFLALPEDSVSEMDAFSK
5:45645436-45645436 A>G	0.0	4129	LUNG	-	-	-	-	HCN1	ENST00000303230,p.Y234H|uc003jok.3,p.Y234H|NM_021072,p.Y234H	protein_coding	uc003jok.3	nonsynonymous SNV	exon2	c.T700C	p.Y234H	FVVDFISSIPVDYIFLIVEKGMDSE	FVVDFISSIPVDHIFLIVEKGMDSE	1.0	5.0	unscreened	-	4129_5:45645436-45645436 A>G_FVVDFISSIPVDHIFLIVEKGMDSE
5:19483513-19483513 T>A	0.0	4129	LUNG	-	-	-	-	CDH18	ENST00000515257,p.E424V|uc011cnm.2,p.E557V|uc021xwu.1,p.E558V|ENST00000506372,p.E558V|ENST00000502796,p.E557V|NM_001291957,p.E558V|NM_001167667,p.E557V	protein_coding, processed_transcript	uc021xwu.1	nonsynonymous SNV	exon12	c.A1673T	p.E558V	AAPSPSGFVHAREMGVCGPAMQKPS	AAPSPSGFVHARVMGVCGPAMQKPS	1.0	2.0	unscreened	-	4129_5:19483513-19483513 T>A_AAPSPSGFVHARVMGVCGPAMQKPS
11:56468284-56468284 G>T	0.0	4129	LUNG	-	-	-	-	OR9G1,OR9G9	uc010rjn.2,p.A141S|ENST00000312153,p.A141S|NM_001013358,p.A141S|NM_001005213,p.A141S	protein_coding	uc010rjn.2	nonsynonymous SNV	exon1	c.G421T	p.A141S	LLYAQAMSIKLCALLVAVSYCGGFI	LLYAQAMSIKLCSLLVAVSYCGGFI	1.0	1.0	unscreened	-	4129_11:56468284-56468284 G>T_LLYAQAMSIKLCSLLVAVSYCGGFI
5:40728578-40728578 C>G	0.0	4129	LUNG	-	-	-	-	TTC33	uc003jma.3,p.V102L|ENST00000337702,p.V102L|NM_012382,p.V102L	protein_coding, processed_transcript	uc003jma.3	nonsynonymous SNV	exon4	c.G304C	p.V102L	PNDATLYEMKSQVLMSLHEMFPAVH	PNDATLYEMKSQLLMSLHEMFPAVH	7.0	6.0	unscreened	-	4129_5:40728578-40728578 C>G_PNDATLYEMKSQLLMSLHEMFPAVH
5:38960547-38960547 T>A	0.0	4129	LUNG	-	-	-	-	RICTOR	NM_001285439,p.T602S|ENST00000357387,p.T602S|uc003jlo.2,p.T602S|uc010ivf.2,p.T317S|ENST00000296782,p.T602S|uc003jlp.2,p.T602S|NM_001285440,p.T317S|NM_152756,p.T602S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ivf.2	nonsynonymous SNV	exon20	c.A949T	p.T317S	NLDLDFAKAKQLTVVGCQFTEFLLE	NLDLDFAKAKQLSVVGCQFTEFLLE	6.0	5.0	-	-	4129_5:38960547-38960547 T>A_NLDLDFAKAKQLSVVGCQFTEFLLE
4:76878723-76878723 C>A	1.0	4129	LUNG	-	-	-	-	SDAD1	uc003hjf.4,p.G476W|NM_001288983,p.G536W|NM_018115,p.G573W|NM_001288984,p.G476W|uc003hje.4,p.G573W|ENST00000395711,p.G536W|uc011cbr.2,p.G536W|ENST00000356260,p.G573W	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cbr.2	nonsynonymous SNV	exon18	c.G1606T	p.G536W	MAQMRKELDAAPGKSQKRKYIEIDS	MAQMRKELDAAPWKSQKRKYIEIDS	8.0	9.0	-	-	4129_4:76878723-76878723 C>A_MAQMRKELDAAPWKSQKRKYIEIDS
6:66005924-66005924 G>T	0.0	4129	LUNG	-	-	-	-	EYS	uc011dxu.1,p.L619I|NM_001142800,p.L619I|NM_001292009,p.L619I|ENST00000370616,p.L619I|ENST00000370621,p.L619I|ENST00000503581,p.L619I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxu.1	nonsynonymous SNV	exon12	c.C1855A	p.L619I	YCLGNHSISVHGLCLALSHNCNCSG	YCLGNHSISVHGICLALSHNCNCSG	3.0	10.0	unscreened	-	4129_6:66005924-66005924 G>T_YCLGNHSISVHGICLALSHNCNCSG
6:51524479-51524479 C>T	0.0	4129	LUNG	-	-	-	-	PKHD1	ENST00000371117,p.R3482H|uc003pah.1,p.R3482H|NM_138694,p.R3482H	protein_coding	uc003pah.1	nonsynonymous SNV	exon61	c.G10445A	p.R3482H	KVCFMDQTPQVLRFFLLGNKSTSKL	KVCFMDQTPQVLHFFLLGNKSTSKL	3.0	2.0	unscreened	-	4129_6:51524479-51524479 C>T_KVCFMDQTPQVLHFFLLGNKSTSKL
4:46263920-46263920 A>T	0.0	4129	LUNG	-	-	-	-	GABRA2	uc003gxe.3,p.I361N|ENST00000515082,p.I361N	protein_coding, processed_transcript, nonsense_mediated_decay	uc003gxe.3	nonsynonymous SNV	exon9	c.T1082A	p.I361N	VVNDKVSESFRVIIIKKIP	VVNDKVSESFRVNIIKKIP	2.0	2.0	unscreened	-	4129_4:46263920-46263920 A>T_VVNDKVSESFRVNIIKKIP
X:47444765-47444765 A>T	0.0	4129	LUNG	-	-	-	-	SYN1,TIMP1	ENST00000456754,p.Q121H	protein_coding	ENST00000456754	nonsynonymous SNV	exon4	c.A363T	p.Q121H	AGEAPSPRPVPHQPVPGARPSNHEG	AGEAPSPRPVPHHPVPGARPSNHEG	10.0	9.0	unscreened	-	4129_X:47444765-47444765 A>T_AGEAPSPRPVPHHPVPGARPSNHEG
4:91230226-91230226 C>T	1.0	4129	LUNG	-	-	-	-	CCSER1	uc003hsw.3,p.T264I|NM_001145065,p.T264I|uc003hsu.3,p.T264I|ENST00000509176,p.T264I|NM_207491,p.T264I|ENST00000505073,p.T264I|uc003hsv.4,p.T264I|ENST00000333691,p.T264I|ENST00000432775,p.T264I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003hsw.3	nonsynonymous SNV	exon2	c.C791T	p.T264I	TTAQTPSEFLALTEDSVSEMDAFSK	TTAQTPSEFLALIEDSVSEMDAFSK	2.0	3.0	-	-	4129_4:91230226-91230226 C>T_TTAQTPSEFLALIEDSVSEMDAFSK
X:144906243-144906243 C>A	0.0	4129	LUNG	-	-	ID=COSM1682942;OCCURENCE=1(lung)	-	SLITRK2	ENST00000434188,p.P767H|NM_001144008,p.P767H|ENST00000447897,p.P767H|uc011mwr.2,p.P767H|ENST00000413937,p.P767H|uc011mwq.2,p.P767H|NM_001144004,p.P767H|uc022cfn.1,p.P767H|NM_001144006,p.P767H|NM_032539,p.P767H|uc010nso.3,p.P767H|uc011mws.2,p.P767H|NM_001144003,p.P767H|uc011mwt.2,p.P767H|uc004fcd.3,p.P767H|uc010nsp.3,p.P767H|ENST00000370490,p.P767H|uc004fcg.3,p.P767H|NM_001144005,p.P767H|NM_001144010,p.P767H|ENST00000428560,p.P767H|NM_001144009,p.P767H	protein_coding	uc022cfn.1	nonsynonymous SNV	exon1	c.C2300A	p.P767H	LYQNIAERVKELPSAGLVHYNFCTL	LYQNIAERVKELHSAGLVHYNFCTL	1.0	6.0	-	-	4129_X:144906243-144906243 C>A_LYQNIAERVKELHSAGLVHYNFCTL
20:17410129-17410129 A>G	0.0	4129	LUNG	-	-	ID=COSM3963331;OCCURENCE=1(lung)	-	PCSK2	uc002wpl.3,p.I205V|ENST00000377899,p.I205V|uc002wpm.3,p.I224V|uc010zrm.2,p.I189V|ENST00000262545,p.I224V|NM_002594,p.I224V|NM_001201528,p.I205V|ENST00000536609,p.I189V|NM_001201529,p.I189V	protein_coding, processed_transcript	uc010zrm.2	nonsynonymous SNV	exon6	c.A565G	p.I189V	CAGEVSAAANNNICGVGVAYNSKVA	CAGEVSAAANNNVCGVGVAYNSKVA	1.0	1.0	unscreened	-	4129_20:17410129-17410129 A>G_CAGEVSAAANNNVCGVGVAYNSKVA
4:114117544-114117544 T>A	0.0	4129	LUNG	-	-	-	-	ANK2	uc003ibe.4,p.H69Q|ENST00000508613,p.H84Q|ENST00000511380,p.H86Q|ENST00000394537,p.H69Q|ENST00000357077,p.H69Q|ENST00000504454,p.H84Q|uc003ibd.4,p.H48Q|uc011cgb.1,p.H84Q|NM_001127493,p.H48Q|uc003ibc.2,p.H45Q|NM_020977,p.H69Q|ENST00000503271,p.H48Q|ENST00000264366,p.H69Q|uc003ibf.4,p.H69Q|ENST00000503423,p.H48Q|NM_001148,p.H69Q|ENST00000506722,p.H48Q	retained_intron, protein_coding, processed_transcript	uc011cgb.1	nonsynonymous SNV	exon4	c.T252A	p.H84Q	INTCNQNGLNALHLAAKEGHVGLVQ	INTCNQNGLNALQLAAKEGHVGLVQ	6.0	2.0	unscreened	-	4129_4:114117544-114117544 T>A_INTCNQNGLNALQLAAKEGHVGLVQ
11:56128493-56128493 C>A	0.0	4129	LUNG	-	-	-	-	OR8J1	ENST00000303039,p.F257L|uc010rjh.2,p.F257L|NM_001005205,p.F257L	protein_coding	uc010rjh.2	nonsynonymous SNV	exon1	c.C771A	p.F257L	MMAVTIFYGTLLFMYVQPRSNHSLD	MMAVTIFYGTLLLMYVQPRSNHSLD	1.0	5.0	unscreened	-	4129_11:56128493-56128493 C>A_MMAVTIFYGTLLLMYVQPRSNHSLD
3:124153320-124153320 A>T	0.0	4129	LUNG	-	-	-	-	KALRN	ENST00000240874,p.D997V|ENST00000360013,p.D997V|uc003ehh.1,p.D343V|uc010hrv.1,p.D988V|uc011bjy.1,p.D988V|uc003ehg.3,p.D997V|NM_001024660,p.D997V|uc003ehf.1,p.D997V|NM_003947,p.D997V|ENST00000460856,p.D988V	retained_intron, protein_coding, processed_transcript	uc011bjy.1	nonsynonymous SNV	exon17	c.A2963T	p.D988V	ALHWQQLMLKMEDRLKLVNASVAFY	ALHWQQLMLKMEVRLKLVNASVAFY	6.0	8.0	unscreened	-	4129_3:124153320-124153320 A>T_ALHWQQLMLKMEVRLKLVNASVAFY
3:167016209-167016209 G>C	0.0	4129	LUNG	-	-	-	-	ZBBX	ENST00000455345,p.T588R|ENST00000392766,p.T588R|uc003feq.3,p.T559R|ENST00000307529,p.T588R|ENST00000392764,p.T559R|NM_001199201,p.T588R|ENST00000392767,p.T588R|uc011bpc.2,p.T588R|NM_001199202,p.T559R|NM_024687,p.T588R|uc003fep.3,p.T588R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bpc.2	nonsynonymous SNV	exon18	c.C1763G	p.T588R	LLQEIACRSKPITKQYQGLERFFIF	LLQEIACRSKPIRKQYQGLERFFIF	1.0	3.0	unscreened	-	4129_3:167016209-167016209 G>C_LLQEIACRSKPIRKQYQGLERFFIF
5:19483513-19483513 T>A	0.0	4129	LUNG	-	-	-	-	CDH18	ENST00000274170,p.R593S|uc003jgc.3,p.R593S|ENST00000507958,p.R593S|NM_004934,p.R593S|ENST00000382275,p.R593S|NM_001291956,p.R593S|uc003jgd.3,p.R593S	protein_coding, processed_transcript	uc003jgd.3	nonsynonymous SNV	exon12	c.A1779T	p.R593S	SSTLTIRVCACERDGRVRTCHAEAF	SSTLTIRVCACESDGRVRTCHAEAF	1.0	2.0	unscreened	-	4129_5:19483513-19483513 T>A_SSTLTIRVCACESDGRVRTCHAEAF
8:77767531-77767531 G>T	0.0	4129	LUNG	-	-	-	-	ZFHX4	uc003yau.2,p.G2792W|NM_024721,p.G2792W|ENST00000455469,p.G2747W|ENST00000518282,p.G2766W|uc003yaw.1,p.G2747W|ENST00000050961,p.G2747W|ENST00000521891,p.G2792W	retained_intron, protein_coding, nonsense_mediated_decay	uc003yaw.1	nonsynonymous SNV	exon9	c.G8239T	p.G2747W	DVENLNAPPAEAGYDQNKTDFDETS	DVENLNAPPAEAWYDQNKTDFDETS	3.0	7.0	unscreened	-	4129_8:77767531-77767531 G>T_DVENLNAPPAEAWYDQNKTDFDETS
5:167868693-167868693 G>T	1.0	4129	LUNG	-	-	-	-	WWC1	NM_001161662,p.A763S|NM_001161661,p.A763S|uc003lzu.3,p.A763S|ENST00000265293,p.A763S|NM_015238,p.A763S|uc003lzw.3,p.A562S|uc003lzv.3,p.A763S|uc011den.2,p.A763S|ENST00000524038,p.A89S|ENST00000521089,p.A763S|uc010jjf.1,p.A30S	retained_intron, protein_coding, processed_transcript, TEC	uc011den.2	nonsynonymous SNV	exon16	c.G2287T	p.A763S	TDRSHLEECLGGAQISLAEVCRSGE	TDRSHLEECLGGSQISLAEVCRSGE	10.0	6.0	-	-	4129_5:167868693-167868693 G>T_TDRSHLEECLGGSQISLAEVCRSGE
7:49977216-49977216 T>A	0.0	4129	LUNG	-	-	-	-	ZPBP	ENST00000046087,p.I322F|NM_007009,p.I322F|uc010kyw.3,p.I321F|ENST00000419417,p.I321F|uc003tou.3,p.I322F|NM_001159878,p.I321F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010kyw.3	nonsynonymous SNV	exon8	c.A961T	p.I321F	VQQHPKCPECCVICSPGSYNPRDGI	VQQHPKCPECCVFCSPGSYNPRDGI	1.0	8.0	unscreened	-	4129_7:49977216-49977216 T>A_VQQHPKCPECCVFCSPGSYNPRDGI
X:21666978-21666978 T>A	0.0	4129	LUNG	-	-	-	-	CNKSR2	uc004czx.2,p.S908T|NM_014927,p.S908T|ENST00000425654,p.S878T|NM_001168647,p.S878T|ENST00000379510,p.S908T|uc011mjo.2,p.S878T	protein_coding, processed_transcript	uc011mjo.2	nonsynonymous SNV	exon20	c.T2632A	p.S878T	EKSESREEKLGDSLQDLYRALEQAS	EKSESREEKLGDTLQDLYRALEQAS	1.0	6.0	unscreened	-	4129_X:21666978-21666978 T>A_EKSESREEKLGDTLQDLYRALEQAS
1:176563999-176563999 G>T	0.0	4129	LUNG	-	-	-	-	PAPPA2	uc001gky.1,p.R420L|NM_021936,p.R420L|NM_020318,p.R420L|ENST00000367662,p.R420L|ENST00000367661,p.R420L|uc001gkz.3,p.R420L	protein_coding, processed_transcript	uc001gkz.3	nonsynonymous SNV	exon3	c.G1259T	p.R420L	LGGDSSEDGHYFRGHLGTLVFWSTA	LGGDSSEDGHYFLGHLGTLVFWSTA	1.0	1.0	-	-	4129_1:176563999-176563999 G>T_LGGDSSEDGHYFLGHLGTLVFWSTA
12:21008042-21008042 A>G	0.0	4129	LUNG	-	-	-	-	SLCO1B3	uc010sim.2,p.I55M|uc031qgp.1,p.I55M|uc010sil.2,p.I55M|ENST00000261196,p.I55M|uc001rel.4,p.I55M|ENST00000540853,p.I55M|NM_019844,p.I55M|ENST00000540229,p.I55M|ENST00000554957,p.I55M|ENST00000381545,p.I55M|ENST00000553473,p.I55M|ENST00000381541,p.I55M	protein_coding, nonsense_mediated_decay, processed_transcript	uc031qgp.1	nonsynonymous SNV	exon3	c.A165G	p.I55M	LGGIIMKISITQIERRFDISSSLAG	LGGIIMKISITQMERRFDISSSLAG	2.0	2.0	unscreened	-	4129_12:21008042-21008042 A>G_LGGIIMKISITQMERRFDISSSLAG
1:175048588-175048588 G>T	0.0	4129	LUNG	-	-	-	-	TNN	ENST00000239462,p.G177C|NM_022093,p.G177C|uc010pmx.1,p.G177C|uc001gkl.1,p.G177C	protein_coding	uc010pmx.1	nonsynonymous SNV	exon2	c.G529T	p.G177C	ACERLACPGACSGHGRCVDGRCLCH	ACERLACPGACSCHGRCVDGRCLCH	1.0	10.0	-	-	4129_1:175048588-175048588 G>T_ACERLACPGACSCHGRCVDGRCLCH
3:46658711-46658711 C>G	0.0	4129	LUNG	-	-	-	-	LOC100132146	NM_001195442,p.C24W|uc003cpw.1,p.C24W	pseudogene,retained_intron, protein_coding, processed_transcript	uc003cpw.1	nonsynonymous SNV	exon2	c.C72G	p.C24W	GMNNQYTRREVFCRNTCHDLKHFWE	GMNNQYTRREVFWRNTCHDLKHFWE	1.0	10.0	unscreened	-	4129_3:46658711-46658711 C>G_GMNNQYTRREVFWRNTCHDLKHFWE
7:12382743-12382743 A>C	0.0	4129	LUNG	-	-	-	-	VWDE	NM_001135924,p.C1380W|uc011jxm.1,p.C834W|uc003ssj.2,p.C1380W|ENST00000275358,p.C1380W	retained_intron, protein_coding, nonsense_mediated_decay	uc011jxm.1	nonsynonymous SNV	exon19	c.T2502G	p.C834W	HGGTCLAGNLCTCPYGFVGPRCETM	HGGTCLAGNLCTWPYGFVGPRCETM	2.0	3.0	unscreened	-	4129_7:12382743-12382743 A>C_HGGTCLAGNLCTWPYGFVGPRCETM
1:179502996-179502996 ->T	0.0	4129	LUNG	-	-	-	-	AXDND1	ENST00000367618,p.M928fs|ENST00000434088,p.M788fs|uc021pfj.1,p.M812fs|uc001gmo.3,p.M928fs|NM_144696,p.M928fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc021pfj.1	frameshift insertion	exon20	c.2435dupT	p.M812fs	QKYLEAMAVIEHMQEKLLEVENRAR	QKYLEAMAVIEHIAGEVTGG	3.0	10.0	unscreened	-	4129_1:179502996-179502996 ->T_QKYLEAMAVIEHIAGEVTGG
4:44449775-44449775 G>A	0.0	4129	LUNG	-	-	-	-	KCTD8	NM_198353,p.R256C|ENST00000360029,p.R256C|uc003gwu.3,p.R256C	protein_coding	uc003gwu.3	nonsynonymous SNV	exon1	c.C766T	p.R256C	AKEVFGDTLNESRDPDRQPEKYTSR	AKEVFGDTLNESCDPDRQPEKYTSR	2.0	10.0	unscreened	-	4129_4:44449775-44449775 G>A_AKEVFGDTLNESCDPDRQPEKYTSR
21:32638637-32638637 C>A	1.0	4129	LUNG	-	-	-	-	TIAM1	uc011adl.1,p.A218S|uc002yow.1,p.A218S|ENST00000541036,p.A218S|ENST00000286827,p.A218S|uc011adk.1,p.A218S|NM_003253,p.A218S	retained_intron, protein_coding, processed_transcript	uc011adl.1	nonsynonymous SNV	exon2	c.G652T	p.A218S	KDCEEARGMETRASPRQLSTCQRAN	KDCEEARGMETRSSPRQLSTCQRAN	6.0	7.0	-	-	4129_21:32638637-32638637 C>A_KDCEEARGMETRSSPRQLSTCQRAN
8:139890467-139890467 C>A	0.0	4129	LUNG	-	-	ID=COSM3942547;OCCURENCE=1(oesophagus)	-	COL22A1	ENST00000303045,p.A62S|NM_152888,p.A62S|ENST00000435777,p.A62S|uc003yvd.3,p.A62S	protein_coding, processed_transcript	uc003yvd.3	nonsynonymous SNV	exon3	c.G184T	p.A62S	GKEDFEKVRQWVANLVDTFEVGPDR	GKEDFEKVRQWVSNLVDTFEVGPDR	5.0	2.0	unscreened	-	4129_8:139890467-139890467 C>A_GKEDFEKVRQWVSNLVDTFEVGPDR
7:136699763-136699763 A>T	0.0	4129	LUNG	-	-	-	-	CHRM2	ENST00000397608,p.N51Y|NM_001006629,p.N51Y|ENST00000320658,p.N51Y|ENST00000402486,p.N51Y|uc003vtg.1,p.N51Y|uc003vtl.1,p.N51Y|uc003vto.1,p.N51Y|NM_001006628,p.N51Y|uc003vtn.1,p.N51Y|uc003vtj.1,p.N51Y|uc003vtf.1,p.N51Y|NM_000739,p.N51Y|NM_001006631,p.N51Y|uc022ame.1,p.N51Y|uc003vtk.1,p.N51Y|NM_001006632,p.N51Y|ENST00000453373,p.N51Y|NM_001006626,p.N51Y|NM_001006630,p.N51Y|uc003vti.1,p.N51Y|ENST00000445907,p.N51Y|ENST00000401861,p.N51Y|NM_001006627,p.N51Y|uc003vtm.1,p.N51Y	protein_coding, processed_transcript	uc022ame.1	nonsynonymous SNV	exon1	c.A151T	p.N51Y	IGNILVMVSIKVNRHLQTVNNYFLF	IGNILVMVSIKVYRHLQTVNNYFLF	1.0	2.0	unscreened	-	4129_7:136699763-136699763 A>T_IGNILVMVSIKVYRHLQTVNNYFLF
6:30918543-30918543 T>A	0.0	4129	LUNG	-	-	-	-	DPCR1	uc003nsg.2,p.L768M|ENST00000462446,p.L768M|NM_080870,p.L768M	protein_coding	uc003nsg.2	nonsynonymous SNV	exon2	c.T2302A	p.L768M	PAQPTENGDRTPLANEKTTPSLAEP	PAQPTENGDRTPMANEKTTPSLAEP	1.0	1.0	unscreened	-	4129_6:30918543-30918543 T>A_PAQPTENGDRTPMANEKTTPSLAEP
9:131743600-131743600 C>T	0.0	4129	LUNG	-	-	-	-	NUP188	uc004bws.2,p.H483Y|ENST00000372577,p.H483Y|NM_015354,p.H483Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004bws.2	nonsynonymous SNV	exon15	c.C1447T	p.H483Y	MSFYNELYKHKPHDVISHEDGTLWR	MSFYNELYKHKPYDVISHEDGTLWR	7.0	10.0	-	-	4129_9:131743600-131743600 C>T_MSFYNELYKHKPYDVISHEDGTLWR
X:100744336-100744336 C>A	0.0	4129	LUNG	-	-	-	-	ARMCX4	uc031tkd.1,p.P254T|NM_001256155,p.P254T|ENST00000423738,p.P254T|uc031tkc.1,p.P254T	protein_coding, processed_transcript, nonsense_mediated_decay	uc031tkd.1	nonsynonymous SNV	exon1	c.C760A	p.P254T	TVSVAKTQSEARPGATVDARGNPNG	TVSVAKTQSEARTGATVDARGNPNG	5.0	10.0	unscreened	-	4129_X:100744336-100744336 C>A_TVSVAKTQSEARTGATVDARGNPNG
12:117962750-117962750 C>G	0.0	4129	LUNG	-	-	-	-	KSR2	uc001two.2,p.R680P|ENST00000339824,p.R709P|ENST00000425217,p.R680P|NM_173598,p.R680P|ENST00000302438,p.R406P	retained_intron, protein_coding, processed_transcript	uc001two.2	nonsynonymous SNV	exon14	c.G2039C	p.R680P	ERDNEDQLKAFKREVMAYRQTRHEN	ERDNEDQLKAFKPEVMAYRQTRHEN	2.0	4.0	unscreened	-	4129_12:117962750-117962750 C>G_ERDNEDQLKAFKPEVMAYRQTRHEN
X:123787438-123787438 G>T	0.0	4129	LUNG	-	-	ID=COSM71923;OCCURENCE=1(ovary)	-	TENM1	ENST00000422452,p.T455N|uc011muj.2,p.T454N|NM_001163278,p.T455N|NM_001163279,p.T454N|uc010nqy.3,p.T455N|NM_014253,p.T455N|ENST00000371130,p.T455N|uc004euj.3,p.T455N	protein_coding, processed_transcript	uc011muj.2	nonsynonymous SNV	exon7	c.C1361A	p.T454N	GIYGRRNIPPTHTQFDFVKLMDGKQ	GIYGRRNIPPTHNQFDFVKLMDGKQ	1.0	10.0	-	-	4129_X:123787438-123787438 G>T_GIYGRRNIPPTHNQFDFVKLMDGKQ
X:148585764-148585764 C>G	0.0	4129	LUNG	-	-	-	-	IDS	uc011mxh.2,p.G55R|uc011mxj.2,p.G55R|NM_006123,p.G55R|ENST00000466323,p.G55R|ENST00000370443,p.G55R|ENST00000340855,p.G55R|NM_000202,p.G55R|ENST00000521702,p.G55R|ENST00000428056,p.G55R|ENST00000370441,p.G55R|uc011mxe.2,p.G55R	protein_coding, processed_transcript, nonsense_mediated_decay	uc011mxj.2	nonsynonymous SNV	exon2	c.G163C	p.G55R	IVDDLRPSLGCYGDKLVRSPNIDQL	IVDDLRPSLGCYRDKLVRSPNIDQL	8.0	6.0	-	-	4129_X:148585764-148585764 C>G_IVDDLRPSLGCYRDKLVRSPNIDQL
X:16170532-16170532 G>T	0.0	4129	LUNG	-	-	-	-	GRPR	ENST00000380289,p.A307S|NM_005314,p.A307S|uc004cxj.3,p.A307S	protein_coding	uc004cxj.3	nonsynonymous SNV	exon3	c.G919T	p.A307S	DTSMLHFVTSICARLLAFTNSCVNP	DTSMLHFVTSICSRLLAFTNSCVNP	1.0	7.0	-	-	4129_X:16170532-16170532 G>T_DTSMLHFVTSICSRLLAFTNSCVNP
19:12958121-12958121 G>T	0.0	4129	LUNG	-	-	-	-	MAST1	NM_014975,p.Q115H|ENST00000591495,p.Q111H|uc002mvm.3,p.Q115H|ENST00000251472,p.Q115H	retained_intron, protein_coding	uc002mvm.3	nonsynonymous SNV	exon5	c.G345T	p.Q115H	TPSSTVSSSCSSQERLHQLPYQPTV	TPSSTVSSSCSSHERLHQLPYQPTV	5.0	8.0	unscreened	-	4129_19:12958121-12958121 G>T_TPSSTVSSSCSSHERLHQLPYQPTV
5:128320910-128320910 G>T	0.0	4129	LUNG	-	-	ID=COSM1664203;OCCURENCE=1(kidney)	-	SLC27A6	NM_001017372,p.G189V|ENST00000395266,p.G189V|uc003kuz.3,p.G189V|ENST00000506176,p.G189V|uc003kuy.3,p.G189V|ENST00000262462,p.G189V|NM_014031,p.G189V	protein_coding	uc003kuz.3	nonsynonymous SNV	exon2	c.G566T	p.G189V	ISVWGMKDSVPQGVISLKEKLSTSP	ISVWGMKDSVPQVVISLKEKLSTSP	1.0	3.0	unscreened	-	4129_5:128320910-128320910 G>T_ISVWGMKDSVPQVVISLKEKLSTSP
8:85785574-85785574 A>C	0.0	4129	LUNG	-	-	-	-	RALYL	NM_001100393,p.K209N|NM_001287243,p.K198N|ENST00000517638,p.K222N|NM_001100392,p.K209N|ENST00000521695,p.K209N|ENST00000523850,p.K136N|uc003ycr.4,p.K209N|NM_173848,p.K209N|uc003ycs.4,p.K209N|ENST00000521376,p.K120N|uc010lzy.3,p.K198N|NM_001100391,p.K222N|ENST00000521268,p.K209N|ENST00000518566,p.K198N|uc003yct.4,p.K222N|uc003ycu.4,p.K136N|ENST00000522455,p.K209N|NM_001287244,p.K136N|uc003ycq.4,p.K209N	retained_intron, protein_coding	uc010lzy.3	nonsynonymous SNV	exon6	c.A594C	p.K198N	QTIKKELTQIKTKIDSLLGRLEKIE	QTIKKELTQIKTNIDSLLGRLEKIE	1.0	8.0	-	-	4129_8:85785574-85785574 A>C_QTIKKELTQIKTNIDSLLGRLEKIE
2:48809169-48809169 G>T	0.0	4129	LUNG	-	-	-	-	STON1,STON1-GTF2A1L	NM_001198594,p.R466L|ENST00000402114,p.R466L|ENST00000405008,p.R466L|uc002rwo.4,p.R466L|ENST00000406226,p.R466L|ENST00000404752,p.R466L|NM_001198593,p.R466L|uc021vhf.1,p.R466L|uc010fbm.3,p.R466L|ENST00000309827,p.R466L|ENST00000394751,p.R466L|uc002rwp.2,p.R466L|ENST00000394754,p.R466L|uc010yol.2,p.R466L|ENST00000309835,p.R466L|NM_172311,p.R466L|NM_006873,p.R466L|NM_001198595,p.R466L	 nonsense_mediated_decay, protein_coding,protein_coding,retained_intron, processed_transcript	uc021vhf.1	nonsynonymous SNV	exon2	c.G1397T	p.R466L	CFLTLNDLELPKRDESYYEKDSEKK	CFLTLNDLELPKLDESYYEKDSEKK	4.0	6.0	unscreened	-	4129_2:48809169-48809169 G>T_CFLTLNDLELPKLDESYYEKDSEKK
15:43910125-43910125 C>A	0.0	4129	LUNG	-	-	-	-	STRC	ENST00000432436,p.G105V|uc001zsg.1,p.G91V|uc001zsf.3,p.G165V|ENST00000450892,p.G165V|ENST00000428650,p.G165V|NM_153700,p.G165V|ENST00000440125,p.G165V	retained_intron, protein_coding, nonsense_mediated_decay	uc001zsg.1	nonsynonymous SNV	exon1	c.G272T	p.G91V	PPTPTRPPCTRDGPSDCVLAADWLP	PPTPTRPPCTRDVPSDCVLAADWLP	2.0	1.0	unscreened	-	4129_15:43910125-43910125 C>A_PPTPTRPPCTRDVPSDCVLAADWLP
X:83374921-83374921 G>C	0.0	4129	LUNG	-	-	-	-	RPS6KA6	uc011mqt.2,p.A254G|NM_014496,p.A254G|ENST00000262752,p.A254G|uc004eej.2,p.A254G|uc011mqu.2,p.A151G|ENST00000543399,p.A254G	protein_coding, processed_transcript	uc011mqu.2	nonsynonymous SNV	exon10	c.C452G	p.A151G	PEVVNRRGHSQSADWWSYGVLMFEM	PEVVNRRGHSQSGDWWSYGVLMFEM	1.0	4.0	unscreened	-	4129_X:83374921-83374921 G>C_PEVVNRRGHSQSGDWWSYGVLMFEM
14:102898202-102898202 G>T	0.0	4129	LUNG	-	-	-	-	TECPR2	NM_014844,p.G385V|uc001ylw.2,p.G385V|ENST00000359520,p.G385V|NM_001172631,p.G385V|ENST00000558678,p.G385V|uc010awl.3,p.G385V	retained_intron, protein_coding, processed_transcript	uc010awl.3	nonsynonymous SNV	exon8	c.G1154T	p.G385V	ERVHVQQAEKLPGATVSETRLRGSS	ERVHVQQAEKLPVATVSETRLRGSS	5.0	4.0	-	-	4129_14:102898202-102898202 G>T_ERVHVQQAEKLPVATVSETRLRGSS
14:74360560-74360560 G>C	1.0	4129	LUNG	-	-	-	-	ZNF410	ENST00000556160,p.E32Q|ENST00000398139,p.E32Q|ENST00000556659,p.E32Q|NM_021188,p.E32Q|uc010tuh.2,p.E32Q|ENST00000442160,p.E32Q|ENST00000324593,p.E32Q|uc001xpb.2,p.E32Q|uc001xoz.2,p.E32Q|ENST00000556396,p.E32Q|NM_001242926,p.E32Q|NM_001242927,p.E32Q|NM_001242924,p.E32Q|ENST00000557495,p.E39Q|ENST00000555044,p.E32Q|ENST00000554797,p.E32Q|ENST00000554582,p.E32Q|ENST00000540593,p.E32Q|uc010arz.2,p.E32Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tuh.2	nonsynonymous SNV	exon3	c.G94C	p.E32Q	TSIPLGQGLVESEAKDITCLSLLPV	TSIPLGQGLVESQAKDITCLSLLPV	8.0	3.0	-	-	4129_14:74360560-74360560 G>C_TSIPLGQGLVESQAKDITCLSLLPV
2:155711486-155711486 A>T	0.0	4129	LUNG	-	-	-	-	KCNJ3	uc002tyv.2,p.L389F|NM_002239,p.L389F|ENST00000295101,p.L389F	protein_coding, processed_transcript	uc002tyv.2	nonsynonymous SNV	exon3	c.A1167T	p.L389F	TNSKERHNSVECLDGLDDITTKLPS	TNSKERHNSVECFDGLDDITTKLPS	1.0	5.0	unscreened	-	4129_2:155711486-155711486 A>T_TNSKERHNSVECFDGLDDITTKLPS
5:41018468-41018468 G>T	0.0	4129	LUNG	-	-	-	-	MROH2B	ENST00000506092,p.A468E|ENST00000399564,p.A913E|NM_173489,p.A913E|uc003jmj.4,p.A913E|uc003jmi.4,p.A468E	retained_intron, protein_coding	uc003jmj.4	nonsynonymous SNV	exon27	c.C2738A	p.A913E	KEWERERAFQITAKVLTNDIEAPEN	KEWERERAFQITEKVLTNDIEAPEN	1.0	7.0	unscreened	-	4129_5:41018468-41018468 G>T_KEWERERAFQITEKVLTNDIEAPEN
4:177138049-177138049 G>T	0.0	4129	LUNG	-	-	-	-	ASB5	ENST00000512254,p.A208D|NM_080874,p.A261D|uc003iuq.2,p.A261D|uc003iup.2,p.A208D|ENST00000296525,p.A261D	protein_coding, processed_transcript	uc003iuq.2	nonsynonymous SNV	exon6	c.C782A	p.A261D	VNLLLEFGADINAKNTELLRPIDVA	VNLLLEFGADINDKNTELLRPIDVA	1.0	1.0	unscreened	-	4129_4:177138049-177138049 G>T_VNLLLEFGADINDKNTELLRPIDVA
1:50666585-50666585 C>A	0.0	4129	LUNG	-	-	-	-	ELAVL4	uc001csa.3,p.T296K|NM_001144775,p.T315K|ENST00000371823,p.T293K|uc001csb.2,p.T293K|NM_001144776,p.T279K|NM_001144777,p.T282K|ENST00000371821,p.T298K|ENST00000371819,p.T284K|ENST00000371824,p.T279K|ENST00000371827,p.T279K|uc001csc.3,p.T279K|ENST00000448907,p.T282K|ENST00000357083,p.T296K|NM_001294348,p.T284K|NM_001144774,p.T279K|uc001cry.3,p.T282K|uc001crz.3,p.T279K|NM_021952,p.T293K|uc010omz.2,p.T284K	protein_coding, processed_transcript	uc010omz.2	nonsynonymous SNV	exon7	c.C851A	p.T284K	MTSLVGMNIPGHTGTGWCIFVYNLS	MTSLVGMNIPGHKGTGWCIFVYNLS	3.0	1.0	unscreened	-	4129_1:50666585-50666585 C>A_MTSLVGMNIPGHKGTGWCIFVYNLS
2:17953945-17953945 A>T	0.0	4129	LUNG	-	-	-	-	GEN1	NM_001130009,p.S283C|ENST00000381254,p.S283C|ENST00000528873,p.S54C|uc002rct.2,p.S283C|ENST00000317402,p.S283C|uc002rcu.2,p.S283C|uc010yjs.1,p.S283C|NM_182625,p.S283C	retained_intron, protein_coding	uc010yjs.1	nonsynonymous SNV	exon8	c.A847T	p.S283C	KDHERNGCRLCKSDKYCEPHDYEYC	KDHERNGCRLCKCDKYCEPHDYEYC	7.0	6.0	-	-	4129_2:17953945-17953945 A>T_KDHERNGCRLCKCDKYCEPHDYEYC
16:5115899-5115899 A>T	0.0	4129	LUNG	-	-	-	-	C16orf89	ENST00000350219,p.L42Q|ENST00000422873,p.L42Q	retained_intron, protein_coding	ENST00000422873	nonsynonymous SNV	exon1	c.T125A	p.L42Q	VTSSEQRPAMASLGLLLLLLLTALP	VTSSEQRPAMASQGLLLLLLLTALP	4.0	8.0	unscreened	-	4129_16:5115899-5115899 A>T_VTSSEQRPAMASQGLLLLLLLTALP
X:148579752-148579752 G>T	0.0	4129	LUNG	-	-	-	-	IDS	ENST00000370443,p.D198E|uc011mxf.2,p.D108E|uc011mxe.2,p.D198E|NM_000202,p.D198E|ENST00000340855,p.D198E|uc011mxh.2,p.D198E|NM_006123,p.D198E|NM_001166550,p.D108E|ENST00000370441,p.D198E|ENST00000466323,p.D198E	protein_coding, processed_transcript, nonsense_mediated_decay	uc011mxh.2	nonsynonymous SNV	exon5	c.C594A	p.D198E	VDVLDVPEGTLPDKQSTEQAIQLLE	VDVLDVPEGTLPEKQSTEQAIQLLE	8.0	9.0	-	-	4129_X:148579752-148579752 G>T_VDVLDVPEGTLPEKQSTEQAIQLLE
8:108315468-108315468 C>A	0.0	4129	LUNG	-	-	-	-	ANGPT1	uc003ymn.3,p.K312N|ENST00000297450,p.K311N|NM_001199859,p.K311N|ENST00000520734,p.K112N|uc011lhv.2,p.K112N|NM_001146,p.K312N|uc003ymo.3,p.K311N|ENST00000517746,p.K312N|ENST00000520052,p.K111N|uc003ymp.4,p.K111N	retained_intron, protein_coding, processed_transcript	uc011lhv.2	nonsynonymous SNV	exon4	c.G336T	p.K112N	YTIYINNMPEPKKVFCNMDVNGGGW	YTIYINNMPEPKNVFCNMDVNGGGW	4.0	7.0	unscreened	-	4129_8:108315468-108315468 C>A_YTIYINNMPEPKNVFCNMDVNGGGW
X:30260787-30260787 G>T	0.0	4129	LUNG	-	-	-	-	MAGEB4	NM_002367,p.V179F|ENST00000378982,p.V179F|uc004dcb.3,p.V179F	protein_coding	uc004dcb.3	nonsynonymous SNV	exon1	c.G535T	p.V179F	KEVNPTTHSYILVSMLGPNDGNQSS	KEVNPTTHSYILFSMLGPNDGNQSS	1.0	6.0	unscreened	-	4129_X:30260787-30260787 G>T_KEVNPTTHSYILFSMLGPNDGNQSS
11:6662424-6662424 G>C	0.0	4129	LUNG	-	-	-	-	DCHS1	NM_003737,p.P141A|uc001mem.1,p.P141A|ENST00000299441,p.P141A	protein_coding	uc001mem.1	nonsynonymous SNV	exon2	c.C421G	p.P141A	VTVRVADINDHAPAFPQARAALQVP	VTVRVADINDHAAAFPQARAALQVP	5.0	3.0	unscreened	-	4129_11:6662424-6662424 G>C_VTVRVADINDHAAAFPQARAALQVP
2:109473293-109473293 G>T	0.0	4129	LUNG	-	-	-	-	CCDC138	ENST00000412964,p.L520F|uc002tep.1,p.L204F|ENST00000295124,p.L520F|uc010fjm.1,p.L204F|uc002teo.1,p.L520F|uc002ten.1,p.L520F|NM_144978,p.L520F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010fjm.1	nonsynonymous SNV	exon13	c.G612T	p.L204F	YLAQAFDSLCLDLKTEEGKTLFLEY	YLAQAFDSLCLDFKTEEGKTLFLEY	3.0	7.0	unscreened	-	4129_2:109473293-109473293 G>T_YLAQAFDSLCLDFKTEEGKTLFLEY
1:237666620-237666620 G>A	0.0	4129	LUNG	-	-	-	-	RYR2	ENST00000360064,p.E808K|NM_001035,p.E810K|ENST00000542537,p.E794K|ENST00000366574,p.E810K|uc001hyl.1,p.E810K	protein_coding, processed_transcript	uc001hyl.1	nonsynonymous SNV	exon22	c.G2428A	p.E810K	IKVRFLLGGRHGEFKFLPPPGYAPC	IKVRFLLGGRHGKFKFLPPPGYAPC	1.0	2.0	unscreened	-	4129_1:237666620-237666620 G>A_IKVRFLLGGRHGKFKFLPPPGYAPC
X:140993453-140993453 A>T	0.0	4129	LUNG	-	-	-	-	MAGEC1	ENST00000285879,p.E88V|NM_005462,p.E88V|uc004fbt.3,p.E88V	protein_coding	uc004fbt.3	nonsynonymous SNV	exon4	c.A263T	p.E88V	SQSPLQIPQSSPEGDDTQSPLQNSQ	SQSPLQIPQSSPVGDDTQSPLQNSQ	1.0	10.0	-	-	4129_X:140993453-140993453 A>T_SQSPLQIPQSSPVGDDTQSPLQNSQ
5:35033590-35033590 A>T	0.0	4129	LUNG	-	-	-	-	AGXT2	uc003jjf.3,p.L217H|NM_031900,p.L217H|uc011com.2,p.L217H|ENST00000231420,p.L217H|ENST00000510428,p.L217H	retained_intron, protein_coding, nonsense_mediated_decay	uc011com.2	nonsynonymous SNV	exon6	c.T650A	p.L217H	LGLTNVGTYKMELPGGTGCQPTMCP	LGLTNVGTYKMEHPGGTGCQPTMCP	1.0	4.0	unscreened	-	4129_5:35033590-35033590 A>T_LGLTNVGTYKMEHPGGTGCQPTMCP
1:237969525-237969525 C>A	0.0	4129	LUNG	-	-	-	-	RYR2	uc010pyb.1,p.A180D|ENST00000366574,p.A4747D|NM_001035,p.A4747D|ENST00000360064,p.A4753D|ENST00000542537,p.A4731D|uc001hyl.1,p.A4747D	protein_coding, processed_transcript	uc010pyb.1	nonsynonymous SNV	exon7	c.C539A	p.A180D	NNFFFAAHLLDIAMGFKTLRTILSS	NNFFFAAHLLDIDMGFKTLRTILSS	1.0	3.0	-	-	4129_1:237969525-237969525 C>A_NNFFFAAHLLDIDMGFKTLRTILSS
X:47487010-47487010 C>A	0.0	4129	LUNG	-	-	-	-	CFP	ENST00000377005,p.W145L|uc010nhu.2,p.W145L|NM_002621,p.W145L|ENST00000247153,p.W145L|uc004dih.3,p.W145L|ENST00000396992,p.W145L|NM_001145252,p.W145L|uc004dig.4,p.W145L|uc004dii.1,p.W81L	retained_intron, protein_coding, processed_transcript	uc010nhu.2	nonsynonymous SNV	exon4	c.G434T	p.W145L	CPEMGGWSGWGPWEPCSVTCSKGTR	CPEMGGWSGWGPLEPCSVTCSKGTR	3.0	10.0	unscreened	-	4129_X:47487010-47487010 C>A_CPEMGGWSGWGPLEPCSVTCSKGTR
11:105623759-105623759 G>T	0.0	4129	LUNG	-	-	-	-	GRIA4	ENST00000282499,p.K100N|uc001piv.3,p.K100N|uc001piu.1,p.K100N|ENST00000393127,p.K100N|NM_001112812,p.K100N|ENST00000530497,p.K100N|ENST00000525187,p.K100N|ENST00000428631,p.K100N|NM_001077244,p.K100N|ENST00000393125,p.K100N|uc001pix.2,p.K100N|uc009yxk.1,p.K100N|uc001piw.2,p.K100N|NM_000829,p.K100N|NM_001077243,p.K100N|ENST00000531011,p.K100N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009yxk.1	nonsynonymous SNV	exon3	c.G300T	p.K100N	SRGVFAIFGLYDKRSVHTLTSFCSA	SRGVFAIFGLYDNRSVHTLTSFCSA	1.0	7.0	unscreened	-	4129_11:105623759-105623759 G>T_SRGVFAIFGLYDNRSVHTLTSFCSA
1:152282568-152282568 C>A	1.0	4129	LUNG	-	-	-	-	FLG	NM_002016,p.R1598S|uc001ezu.1,p.R1598S|ENST00000368799,p.R1598S	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.G4794T	p.R1598S	TSRRQGSSVSQDRDSEGHSEDSERR	TSRRQGSSVSQDSDSEGHSEDSERR	1.0	10.0	-	-	4129_1:152282568-152282568 C>A_TSRRQGSSVSQDSDSEGHSEDSERR
12:130184565-130184565 C>A	0.0	4129	LUNG	-	-	-	-	TMEM132D	NM_133448,p.G253V|uc009zyl.1,p.G253V|ENST00000422113,p.G253V	protein_coding	uc009zyl.1	nonsynonymous SNV	exon2	c.G758T	p.G253V	REDARRSNGIRTGHSDIDESGPPLQ	REDARRSNGIRTVHSDIDESGPPLQ	1.0	5.0	unscreened	-	4129_12:130184565-130184565 C>A_REDARRSNGIRTVHSDIDESGPPLQ
1:173880023-173880023 C>A	0.0	4129	LUNG	-	-	-	-	SERPINC1	NM_000488,p.A211S|uc001gjt.3,p.A211S|ENST00000367698,p.A211S	protein_coding, processed_transcript	uc001gjt.3	nonsynonymous SNV	exon4	c.G631T	p.A211S	GAKLQPLDFKENAEQSRAAINKWVS	GAKLQPLDFKENSEQSRAAINKWVS	1.0	1.0	unscreened	-	4129_1:173880023-173880023 C>A_GAKLQPLDFKENSEQSRAAINKWVS
5:150925830-150925830 G>T	0.0	4129	LUNG	-	-	-	-	FAT2	NM_001447,p.Q1620K|uc003lue.4,p.Q1620K|ENST00000261800,p.Q1620K	protein_coding	uc003lue.4	nonsynonymous SNV	exon9	c.C4858A	p.Q1620K	LLGIITLAQKLDQANHAPHTLTVKA	LLGIITLAQKLDKANHAPHTLTVKA	1.0	4.0	unscreened	-	4129_5:150925830-150925830 G>T_LLGIITLAQKLDKANHAPHTLTVKA
15:43910126-43910126 C>G	0.0	4129	LUNG	-	-	-	-	STRC	ENST00000450892,p.G165R|ENST00000432436,p.G105R|ENST00000428650,p.G165R|NM_153700,p.G165R|ENST00000440125,p.G165R|uc001zsf.3,p.G165R|uc001zsg.1,p.G91R	retained_intron, protein_coding, nonsense_mediated_decay	uc001zsg.1	nonsynonymous SNV	exon1	c.G271C	p.G91R	PPTPTRPPCTRDGPSDCVLAADWLP	PPTPTRPPCTRDRPSDCVLAADWLP	2.0	1.0	unscreened	-	4129_15:43910126-43910126 C>G_PPTPTRPPCTRDRPSDCVLAADWLP
12:29604283-29604283 G>T	0.0	4129	LUNG	-	-	-	-	OVCH1	uc001rix.1,p.T917K|ENST00000318184,p.T917K|NM_183378,p.T917K	protein_coding, nonsense_mediated_decay	uc001rix.1	nonsynonymous SNV	exon22	c.C2750A	p.T917K	LIIYEERHSKRKTAGGLHGRRLYSM	LIIYEERHSKRKKAGGLHGRRLYSM	1.0	2.0	unscreened	-	4129_12:29604283-29604283 G>T_LIIYEERHSKRKKAGGLHGRRLYSM
13:113772782-113772782 G>T	0.0	4129	LUNG	-	-	-	-	F7	uc001vsv.4,p.Q287H|NM_000131,p.Q287H|NM_001267554,p.Q203H|NM_019616,p.Q265H|uc001vsw.4,p.Q265H|ENST00000541084,p.Q218H|ENST00000375581,p.Q287H|ENST00000346342,p.Q265H|uc010tjt.3,p.Q203H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tjt.3	nonsynonymous SNV	exon6	c.G609T	p.Q203H	EHDGDEQSRRVAQVIIPSTYVPGTT	EHDGDEQSRRVAHVIIPSTYVPGTT	1.0	6.0	-	-	4129_13:113772782-113772782 G>T_EHDGDEQSRRVAHVIIPSTYVPGTT
4:183650138-183650138 G>C	0.0	4129	LUNG	-	-	-	-	TENM3	uc003ivd.1,p.D797H|ENST00000511685,p.D797H|ENST00000406950,p.D797H|uc003ive.1,p.D203H|NM_001080477,p.D797H	retained_intron, protein_coding, processed_transcript	uc003ive.1	nonsynonymous SNV	exon6	c.G607C	p.D203H	KDNEGDGLIDCMDPDCCLQSSCQNQ	KDNEGDGLIDCMHPDCCLQSSCQNQ	5.0	1.0	unscreened	-	4129_4:183650138-183650138 G>C_KDNEGDGLIDCMHPDCCLQSSCQNQ
19:57642013-57642013 T>A	0.0	4129	LUNG	-	-	-	-	USP29	uc002qny.3,p.I657N|ENST00000598197,p.I657N|uc021vci.1,p.I657N|NM_020903,p.I657N|ENST00000254181,p.I657N	protein_coding	uc021vci.1	nonsynonymous SNV	exon1	c.T1970A	p.I657N	LPVADSLMDQGDISLPVMYEDGGKL	LPVADSLMDQGDNSLPVMYEDGGKL	1.0	7.0	unscreened	-	4129_19:57642013-57642013 T>A_LPVADSLMDQGDNSLPVMYEDGGKL
20:47990572-47990572 G>T	0.0	4129	LUNG	-	-	-	-	KCNB1	uc002xus.1,p.Q509K|ENST00000371741,p.Q509K|uc002xur.1,p.Q509K|NM_004975,p.Q509K	protein_coding	uc002xus.1	nonsynonymous SNV	exon3	c.C1525A	p.Q509K	ETSSSKSFETKEQGSPEKARSSSSP	ETSSSKSFETKEKGSPEKARSSSSP	2.0	2.0	unscreened	-	4129_20:47990572-47990572 G>T_ETSSSKSFETKEKGSPEKARSSSSP
5:127599184-127599184 C>T	0.0	4129	LUNG	0.0005	-	-	-	FBN2	uc003kuu.3,p.G2709S|ENST00000262464,p.G2709S|NM_001999,p.G2709S|ENST00000508053,p.G2709S	retained_intron, protein_coding, processed_transcript	uc003kuu.3	nonsynonymous SNV	exon63	c.G8125A	p.G2709S	NECSSSKNPCNYGCSNTEGGYLCGC	NECSSSKNPCNYSCSNTEGGYLCGC	3.0	4.0	unscreened	-	4129_5:127599184-127599184 C>T_NECSSSKNPCNYSCSNTEGGYLCGC
X:54264881-54264881 G>T	0.0	4129	LUNG	-	-	-	-	WNK3	uc004dtc.2,p.A1303E|ENST00000375159,p.A1303E|NM_020922,p.A1303E|ENST00000354646,p.A1303E	protein_coding	uc004dtc.2	nonsynonymous SNV	exon19	c.C3908A	p.A1303E	KVRQVETEEMRSAIAPDPIPLTRES	KVRQVETEEMRSEIAPDPIPLTRES	1.0	9.0	unscreened	-	4129_X:54264881-54264881 G>T_KVRQVETEEMRSEIAPDPIPLTRES
X:54264881-54264881 G>T	0.0	4129	LUNG	-	-	-	-	WNK3	NM_001002838,p.A1256E|uc004dtd.2,p.A1256E|ENST00000375169,p.A1256E	protein_coding	uc004dtd.2	nonsynonymous SNV	exon19	c.C3767A	p.A1256E	LQTGVETEEMRSAIAPDPIPLTRES	LQTGVETEEMRSEIAPDPIPLTRES	1.0	9.0	unscreened	-	4129_X:54264881-54264881 G>T_LQTGVETEEMRSEIAPDPIPLTRES
X:32841416-32841416 C>A	0.0	4129	LUNG	-	-	-	-	DMD	uc004ddf.3,p.W110L|uc004dda.1,p.W118L|ENST00000378677,p.W114L|uc004ddb.1,p.W110L|ENST00000288447,p.W110L|NM_004009,p.W114L|NM_004006,p.W118L|NM_000109,p.W110L|uc004dcy.1,p.W114L|ENST00000357033,p.W118L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004ddf.3	nonsynonymous SNV	exon5	c.G329T	p.W110L	LTLGLIWNIILHWQVKNVMKNIMAG	LTLGLIWNIILHLQVKNVMKNIMAG	5.0	2.0	unscreened	-	4129_X:32841416-32841416 C>A_LTLGLIWNIILHLQVKNVMKNIMAG
2:113675224-113675224 C>T	0.0	4129	LUNG	-	-	-	-	IL37	ENST00000353225,p.A53V|uc002til.3,p.A53V|NM_173204,p.A53V	protein_coding	uc002til.3	nonsynonymous SNV	exon3	c.C158T	p.A53V	PTMNFVHTKIFFALASSLSSASAEK	PTMNFVHTKIFFVLASSLSSASAEK	1.0	3.0	unscreened	-	4129_2:113675224-113675224 C>T_PTMNFVHTKIFFVLASSLSSASAEK
4:20598173-20598173 G>T	0.0	4129	LUNG	-	-	-	-	SLIT2	ENST00000504154,p.Q1152H|uc003gpr.1,p.Q1152H|ENST00000503823,p.Q1144H|NM_001289135,p.Q1148H|NM_004787,p.Q1152H|uc003gps.1,p.Q1144H|ENST00000273739,p.Q1165H|ENST00000503837,p.Q1148H|NM_001289136,p.Q1144H	retained_intron, protein_coding, processed_transcript	uc003gps.1	nonsynonymous SNV	exon31	c.G3432T	p.Q1144H	INEPICQCLPGYQGEKCEKLVSVNF	INEPICQCLPGYHGEKCEKLVSVNF	4.0	9.0	-	-	4129_4:20598173-20598173 G>T_INEPICQCLPGYHGEKCEKLVSVNF
11:56258164-56258164 C>A	0.0	4129	LUNG	-	-	-	-	OR5M8	NM_001005282,p.R228L|ENST00000327216,p.R228L|uc001nix.1,p.R228L	protein_coding	uc001nix.1	nonsynonymous SNV	exon1	c.G683T	p.R228L	SYLYIFPAILKIRSTEGRQKAFSTC	SYLYIFPAILKILSTEGRQKAFSTC	1.0	6.0	unscreened	-	4129_11:56258164-56258164 C>A_SYLYIFPAILKILSTEGRQKAFSTC
15:28230299-28230299 C>A	0.0	4129	LUNG	-	-	-	-	OCA2	uc010ayv.3,p.M401I|uc001zbh.4,p.M425I|NM_000275,p.M425I|ENST00000353809,p.M401I|NM_001300984,p.M401I|ENST00000354638,p.M425I|ENST00000382996,p.M425I	protein_coding, processed_transcript	uc010ayv.3	nonsynonymous SNV	exon12	c.G1203T	p.M401I	KAYRLSRGRVWAMIIMLCLIAAVLS	KAYRLSRGRVWAIIIMLCLIAAVLS	1.0	5.0	unscreened	-	4129_15:28230299-28230299 C>A_KAYRLSRGRVWAIIIMLCLIAAVLS
8:6914177-6914177 G>T	0.0	4129	LUNG	-	-	-	-	DEFA5	ENST00000330590,p.L15M|uc003wra.1,p.L15M|NM_021010,p.L15M	protein_coding	uc003wra.1	nonsynonymous SNV	exon1	c.C43A	p.L15M	TIAILAAILLVALQAQAESLQERAD	TIAILAAILLVAMQAQAESLQERAD	1.0	6.0	unscreened	-	4129_8:6914177-6914177 G>T_TIAILAAILLVAMQAQAESLQERAD
17:51900803-51900803 A>T	0.0	4129	LUNG	-	-	-	-	KIF2B	NM_032559,p.S137C|uc002iua.2,p.S137C|ENST00000268919,p.S137C	protein_coding	uc002iua.2	nonsynonymous SNV	exon1	c.A409T	p.S137C	TASGDSLDVRVPSKPCLMKQKKSPC	TASGDSLDVRVPCKPCLMKQKKSPC	1.0	6.0	unscreened	-	4129_17:51900803-51900803 A>T_TASGDSLDVRVPCKPCLMKQKKSPC
6:66115144-66115144 G>T	0.0	4129	LUNG	-	-	-	-	EYS	ENST00000370618,p.Q327K|uc021zbn.1,p.Q327K|uc011dxu.1,p.Q327K|NM_001142800,p.Q327K|NM_001292009,p.Q327K|ENST00000370621,p.Q327K|ENST00000342421,p.Q327K|uc003per.1,p.Q327K|NM_198283,p.Q327K|ENST00000370616,p.Q327K|NM_001142801,p.Q327K|ENST00000503581,p.Q327K|uc003peq.3,p.Q327K|ENST00000393380,p.Q327K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zbn.1	nonsynonymous SNV	exon6	c.C979A	p.Q327K	AYTYECPKGSSSQNGETDVSEFSLV	AYTYECPKGSSSKNGETDVSEFSLV	3.0	9.0	unscreened	-	4129_6:66115144-66115144 G>T_AYTYECPKGSSSKNGETDVSEFSLV
1:150445476-150445476 G>T	1.0	4129	LUNG	-	-	-	-	RPRD2	uc009wlr.3,p.G1351V|NM_001297674,p.G1325V|uc001eup.4,p.G1325V|NM_015203,p.G1351V|ENST00000369068,p.G1351V|ENST00000401000,p.G1325V	protein_coding, processed_transcript	uc009wlr.3	nonsynonymous SNV	exon11	c.G4052T	p.G1351V	HFGVLPGPRDHGGPTQRDLNGPGLS	HFGVLPGPRDHGVPTQRDLNGPGLS	6.0	9.0	-	-	4129_1:150445476-150445476 G>T_HFGVLPGPRDHGVPTQRDLNGPGLS
5:94922266-94922266 G>T	0.0	4129	LUNG	-	-	-	-	ARSK	NM_198150,p.V234L|uc010jbg.3,p.V75L|uc003kld.3,p.V234L|ENST00000380009,p.V234L|ENST00000504873,p.V234L	protein_coding, nonsense_mediated_decay	uc010jbg.3	nonsynonymous SNV	exon6	c.G223T	p.V75L	STFHTSLYWLEKVSHDAIKIPKWSP	STFHTSLYWLEKLSHDAIKIPKWSP	4.0	5.0	unscreened	-	4129_5:94922266-94922266 G>T_STFHTSLYWLEKLSHDAIKIPKWSP
15:57815735-57815735 C>T	0.0	4129	LUNG	-	-	-	-	CGNL1	NM_032866,p.L922F|uc002aeg.3,p.L922F|ENST00000281282,p.L922F|uc010bfw.3,p.L922F|NM_001252335,p.L922F	protein_coding, processed_transcript	uc010bfw.3	nonsynonymous SNV	exon12	c.C2764T	p.L922F	QTTQEQKQLSEKLKEESEQKEQLRR	QTTQEQKQLSEKFKEESEQKEQLRR	4.0	1.0	unscreened	-	4129_15:57815735-57815735 C>T_QTTQEQKQLSEKFKEESEQKEQLRR
9:78790139-78790158 AATGGAATGGAATGAAATGG>-	0.0	4129	LUNG	-	-	-	-	PCSK5	ENST00000376767,p.K665fs|uc004ajy.2,p.K665fs	protein_coding	uc004ajy.2	frameshift deletion	exon14	c.1994_2013del	p.K665fs	TTWENRMEWNGMKWNGMKWNGMEWN	TTWENRMEWNGMKWNGMEWNGMESNRIESNRI	4.0	9.0	unscreened	-	4129_9:78790139-78790158 AATGGAATGGAATGAAATGG>-_TTWENRMEWNGMKWNGMEWNGMESNRIESNRI
19:58090048-58090048 A>-	0.0	4129	LUNG	-	-	-	-	ZNF416	NM_017879,p.S9fs|uc002qpf.3,p.S9fs|ENST00000196489,p.S9fs	protein_coding	uc002qpf.3	frameshift deletion	exon1	c.25delT	p.S9fs	MAAAVLRDSTSVPVTAEAKLM	MAAAVLRDRLRFP	4.0	3.0	unscreened	-	4129_19:58090048-58090048 A>-_MAAAVLRDRLRFP
10:87379785-87379785 C>A	0.0	4129	LUNG	-	-	ID=COSM197717;OCCURENCE=1(large_intestine)	-	GRID1	ENST00000327946,p.K733N|uc001kdl.1,p.K733N|NM_017551,p.K733N|uc010qmf.1,p.K304N|ENST00000536331,p.K304N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qmf.1	nonsynonymous SNV	exon7	c.G912T	p.K304N	CVSSPSEGIRKAKKGNYAFLWDVAV	CVSSPSEGIRKANKGNYAFLWDVAV	3.0	8.0	unscreened	-	4129_10:87379785-87379785 C>A_CVSSPSEGIRKANKGNYAFLWDVAV
21:31720922-31720922 C>A	0.0	4129	LUNG	-	-	-	-	KRTAP23-1	uc002yny.1,p.M1I|NM_181624,p.M1I|ENST00000334160,p.M1I	protein_coding	uc002yny.1	nonsynonymous SNV	exon1	c.G3T	p.M1I	MSYNCCCGNFSSH	ISYNCCCGNFSSH	1.0	3.0	unscreened	-	4129_21:31720922-31720922 C>A_ISYNCCCGNFSSH
3:41979653-41979653 C>A	0.0	4129	LUNG	-	-	-	-	ULK4	NM_017886,p.V59L|ENST00000453224,p.V59L|ENST00000420927,p.V59L|uc003ckv.4,p.V59L|uc003ckx.1,p.V59L|ENST00000301831,p.V59L|ENST00000414606,p.V59L|uc003ckw.2,p.V59L|ENST00000431379,p.V59L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ckx.1	nonsynonymous SNV	exon3	c.G175T	p.V59L	VRLTREIKHKNIVTFHEWYETSNHL	VRLTREIKHKNILTFHEWYETSNHL	5.0	8.0	unscreened	-	4129_3:41979653-41979653 C>A_VRLTREIKHKNILTFHEWYETSNHL
12:53045737-53045737 C>T	0.0	4129	LUNG	-	-	-	-	KRT2	ENST00000309680,p.V64I|NM_000423,p.V64I|uc001sat.3,p.V64I	retained_intron, protein_coding	uc001sat.3	nonsynonymous SNV	exon1	c.G190A	p.V64I	GFGGGGFGSRSLVGLGGTKSISISV	GFGGGGFGSRSLIGLGGTKSISISV	1.0	6.0	unscreened	-	4129_12:53045737-53045737 C>T_GFGGGGFGSRSLIGLGGTKSISISV
4:44638101-44638101 G>T	0.0	4129	LUNG	-	-	-	-	YIPF7	uc010ify.2,p.Q64K|NM_182592,p.Q64K|ENST00000332990,p.Q64K|uc021xnx.1,p.Q64K	retained_intron, protein_coding, processed_transcript	uc021xnx.1	nonsynonymous SNV	exon3	c.C190A	p.Q64K	SNAYGNLYGSRKQQAGEQPQPASFV	SNAYGNLYGSRKKQAGEQPQPASFV	1.0	1.0	unscreened	-	4129_4:44638101-44638101 G>T_SNAYGNLYGSRKKQAGEQPQPASFV
2:220164914-220164914 C>G	0.0	4129	LUNG	-	-	-	-	PTPRN	ENST00000295718,p.G410A|uc010zlc.2,p.G320A|ENST00000423636,p.G320A|ENST00000409251,p.G410A|NM_001199763,p.G410A|uc002vla.3,p.G410A|uc002vkz.3,p.G410A|NM_001199764,p.G320A|NM_002846,p.G410A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zlc.2	nonsynonymous SNV	exon9	c.G959C	p.G320A	TAELPARTSPMPGHPTASPTSSEVQ	TAELPARTSPMPAHPTASPTSSEVQ	5.0	6.0	unscreened	-	4129_2:220164914-220164914 C>G_TAELPARTSPMPAHPTASPTSSEVQ
19:44118040-44118040 G>T	0.0	4129	LUNG	-	-	-	-	SRRM5	ENST00000526798,p.E604D|uc010xwr.2,p.E589D|NM_001145641,p.E589D|ENST00000607544,p.E589D|uc002oxb.3,p.E604D|ENST00000417606,p.E589D	protein_coding	uc010xwr.2	nonsynonymous SNV	exon1	c.G1767T	p.E589D	KERERRQSRSSSEERDHSRSRSPNK	KERERRQSRSSSDERDHSRSRSPNK	2.0	1.0	unscreened	-	4129_19:44118040-44118040 G>T_KERERRQSRSSSDERDHSRSRSPNK
20:1559024-1559025 CA>-	0.0	4129	LUNG	-	-	-	-	SIRPB1	ENST00000567028,p.V130fs|ENST00000563840,p.V130fs|ENST00000381603,p.V131fs|ENST00000564763,p.V131fs|ENST00000381605,p.V131fs|ENST00000262929,p.V130fs|NM_006065,p.V131fs|uc002wfk.4,p.V131fs|uc010gai.3,p.V131fs|NM_001083910,p.V131fs	protein_coding, nonsense_mediated_decay, processed_transcript	uc010gai.3	frameshift deletion	exon2	c.392_393del	p.V131fs	YCVKFRKGSPDDVEFKSGAGTELSV	YCVKFRKGSPDDGV	6.0	1.0	unscreened	-	4129_20:1559024-1559025 CA>-_YCVKFRKGSPDDGV
X:32841416-32841416 C>A	0.0	4129	LUNG	-	-	-	-	DMD	ENST00000447523,p.W81L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000447523	nonsynonymous SNV	exon3	c.G242T	p.W81L	LTLGLIWNIILHWQVLGDRWANICR	LTLGLIWNIILHLQVLGDRWANICR	5.0	2.0	unscreened	-	4129_X:32841416-32841416 C>A_LTLGLIWNIILHLQVLGDRWANICR
11:1013542-1013542 C>T	0.0	4129	LUNG	-	-	-	-	MUC6	NM_005961,p.D2412N|ENST00000421673,p.D2412N|uc001lsw.2,p.D2412N	protein_coding	uc001lsw.2	nonsynonymous SNV	exon33	c.G7234A	p.D2412N	HSYEQQLELPCPDPSTPGRRLVLTL	HSYEQQLELPCPNPSTPGRRLVLTL	1.0	10.0	unscreened	-	4129_11:1013542-1013542 C>T_HSYEQQLELPCPNPSTPGRRLVLTL
18:56202392-56202392 C>T	0.0	4129	LUNG	-	-	-	-	ALPK2	NM_052947,p.G1676D|uc002lhj.4,p.G1676D|ENST00000361673,p.G1676D|uc002lhk.1,p.G1007D	retained_intron, protein_coding, processed_transcript	uc002lhk.1	nonsynonymous SNV	exon1	c.G3020A	p.G1007D	KAPKLLQDPCQKGTLGCAKKSRERE	KAPKLLQDPCQKDTLGCAKKSRERE	4.0	3.0	unscreened	-	4129_18:56202392-56202392 C>T_KAPKLLQDPCQKDTLGCAKKSRERE
12:41967685-41967685 C>A	0.0	4129	LUNG	-	-	-	-	PDZRN4	uc010skn.2,p.T1035N|NM_013377,p.T777N|ENST00000539469,p.T777N|ENST00000298919,p.T775N|uc009zjz.3,p.T775N|NM_001164595,p.T1035N|uc001rmq.4,p.T777N|ENST00000402685,p.T1035N|uc001rmr.3,p.T662N	retained_intron, protein_coding	uc010skn.2	nonsynonymous SNV	exon10	c.C3104A	p.T1035N	GTRVHNAFLSVTTV	GTRVHNAFLSVTNV	2.0	3.0	unscreened	-	4129_12:41967685-41967685 C>A_GTRVHNAFLSVTNV
10:50827918-50827918 C>A	0.0	4129	LUNG	-	-	-	-	CHAT	NM_020549,p.L179M|ENST00000395562,p.L97M|uc001jhx.1,p.L61M|uc001jhz.2,p.L179M|ENST00000455728,p.L61M|ENST00000337653,p.L179M|ENST00000339797,p.L61M|uc001jhy.1,p.L61M|uc001jhv.1,p.L61M|ENST00000351556,p.L61M|NM_001142933,p.L97M|NM_001142929,p.L61M|uc010qgs.1,p.L61M|NM_001142934,p.L61M|NM_020985,p.L61M|NM_020986,p.L61M|ENST00000395559,p.L61M|NM_020984,p.L61M	protein_coding, processed_transcript	uc010qgs.1	nonsynonymous SNV	exon3	c.C181A	p.L61M	QQFGAPGGLGETLQQKLLERQEKTA	QQFGAPGGLGETMQQKLLERQEKTA	1.0	3.0	unscreened	-	4129_10:50827918-50827918 C>A_QQFGAPGGLGETMQQKLLERQEKTA
5:35033590-35033590 A>T	0.0	4129	LUNG	-	-	-	-	AGXT2	uc011con.2,p.L125H	retained_intron, protein_coding, nonsense_mediated_decay	uc011con.2	nonsynonymous SNV	exon5	c.T374A	p.L125H	LGLTNVGTYKMELPGGTGCQPVSLE	LGLTNVGTYKMEHPGGTGCQPVSLE	1.0	4.0	unscreened	-	4129_5:35033590-35033590 A>T_LGLTNVGTYKMEHPGGTGCQPVSLE
16:76592529-76592529 G>T	0.0	4129	LUNG	-	-	-	-	CNTNAP4	uc002fex.1,p.E1295D|NM_138994,p.E1219D|uc002fev.1,p.E1156D|ENST00000478060,p.E1219D|ENST00000476707,p.E1295D|ENST00000377504,p.E1243D|uc010chb.1,p.E1219D|ENST00000307431,p.E1291D	retained_intron, protein_coding, processed_transcript, TEC	uc010chb.1	nonsynonymous SNV	exon23	c.G3657T	p.E1219D	ENVDSAEAVLKSELNIQNAVNENQK	ENVDSAEAVLKSDLNIQNAVNENQK	1.0	2.0	unscreened	-	4129_16:76592529-76592529 G>T_ENVDSAEAVLKSDLNIQNAVNENQK
X:54324736-54324736 A>T	0.0	4129	LUNG	-	-	-	-	WNK3	ENST00000375169,p.S424T|ENST00000375159,p.S424T|NM_001002838,p.S424T|NM_020922,p.S424T|uc004dtc.2,p.S424T|ENST00000354646,p.S424T|uc004dtd.2,p.S424T	protein_coding	uc004dtd.2	nonsynonymous SNV	exon7	c.T1270A	p.S424T	RVELAEEDDCSNSSLALRLWVEDPK	RVELAEEDDCSNTSLALRLWVEDPK	1.0	7.0	unscreened	-	4129_X:54324736-54324736 A>T_RVELAEEDDCSNTSLALRLWVEDPK
6:132939259-132939259 C>T	0.0	4129	LUNG	-	-	-	-	TAAR2	uc003qdl.1,p.G29E|NM_001033080,p.G29E|ENST00000367931,p.G29E	protein_coding	uc003qdl.1	nonsynonymous SNV	exon2	c.G86A	p.G29E	QTKKEKFNCSEYGNRSCPENERSLG	QTKKEKFNCSEYENRSCPENERSLG	1.0	9.0	unscreened	-	4129_6:132939259-132939259 C>T_QTKKEKFNCSEYENRSCPENERSLG
5:140432164-140432164 C>A	0.0	4129	LUNG	-	-	-	-	PCDHB1	NM_013340,p.T370N|ENST00000306549,p.T370N|uc003lik.1,p.T370N	protein_coding	uc003lik.1	nonsynonymous SNV	exon1	c.C1109A	p.T370N	EDSPPQTVVALFTIRDRDIRVGGKV	EDSPPQTVVALFNIRDRDIRVGGKV	1.0	4.0	-	-	4129_5:140432164-140432164 C>A_EDSPPQTVVALFNIRDRDIRVGGKV
1:154293736-154293736 G>T	0.0	4129	LUNG	-	-	-	-	AQP10	uc001feu.3,p.M35I|ENST00000324978,p.M35I|NM_080429,p.M35I|ENST00000484864,p.M35I	protein_coding, processed_transcript	uc001feu.3	nonsynonymous SNV	exon1	c.G105T	p.M35I	QCLAEFLGVFVLMLLTQGAVAQAVT	QCLAEFLGVFVLILLTQGAVAQAVT	1.0	2.0	unscreened	-	4129_1:154293736-154293736 G>T_QCLAEFLGVFVLILLTQGAVAQAVT
2:113675224-113675224 C>T	0.0	4129	LUNG	-	-	-	-	IL37	ENST00000349806,p.A32V|uc002tim.3,p.A32V|NM_173203,p.A32V	protein_coding	uc002tim.3	nonsynonymous SNV	exon2	c.C95T	p.A32V	DEPQCCLEEIFFALASSLSSASAEK	DEPQCCLEEIFFVLASSLSSASAEK	1.0	3.0	unscreened	-	4129_2:113675224-113675224 C>T_DEPQCCLEEIFFVLASSLSSASAEK
11:55135715-55135715 C>T	0.0	4129	LUNG	-	-	ID=COSM322291;OCCURENCE=1(lung)	-	OR4A15	NM_001005275,p.T119I|ENST00000314706,p.T119I|uc010rif.2,p.T119I	protein_coding	uc010rif.2	nonsynonymous SNV	exon1	c.C356T	p.T119I	PKMIVDLLSEKKTISFQGCMAQLFM	PKMIVDLLSEKKIISFQGCMAQLFM	1.0	2.0	unscreened	-	4129_11:55135715-55135715 C>T_PKMIVDLLSEKKIISFQGCMAQLFM
8:101154308-101154308 G>T	0.0	4129	LUNG	-	-	-	-	FBXO43	uc010mbp.2,p.N58K|ENST00000428847,p.N58K|uc003yjd.3,p.N58K|NM_001029860,p.N58K|uc003yje.3,p.N24K	retained_intron, protein_coding, nonsense_mediated_decay	uc010mbp.2	nonsynonymous SNV	exon2	c.C174A	p.N58K	EAGNGADSPPIVNSKYSTFRDFCST	EAGNGADSPPIVKSKYSTFRDFCST	1.0	5.0	-	-	4129_8:101154308-101154308 G>T_EAGNGADSPPIVKSKYSTFRDFCST
8:139629183-139629183 C>A	0.0	4129	LUNG	-	-	ID=COSM604298;OCCURENCE=1(lung)	-	COL22A1	NM_152888,p.G1282C|ENST00000435777,p.G1262C|uc003yvd.3,p.G1282C|uc011ljo.2,p.G562C|ENST00000303045,p.G1282C	protein_coding, processed_transcript	uc011ljo.2	nonsynonymous SNV	exon36	c.G1684T	p.G562C	GARGPPGFKGHTGDSGAPGPRGESG	GARGPPGFKGHTCDSGAPGPRGESG	5.0	2.0	unscreened	-	4129_8:139629183-139629183 C>A_GARGPPGFKGHTCDSGAPGPRGESG
18:61582808-61582808 T>A	0.0	4129	LUNG	-	-	-	-	SERPINB10	ENST00000238508,p.S22T|uc002ljq.1,p.S136T|uc010xev.2,p.S22T|NM_005024,p.S22T|uc010xew.2,p.S22T|uc002ljp.1,p.S163T	protein_coding	uc010xew.2	nonsynonymous SNV	exon1	c.T64A	p.S22T	QFALELSKKLAESAQGKNIFFSSWS	QFALELSKKLAETAQGKNIFFSSWS	1.0	5.0	unscreened	-	4129_18:61582808-61582808 T>A_QFALELSKKLAETAQGKNIFFSSWS
7:1786001-1786001 C>G	0.0	4129	LUNG	-	-	-	-	ELFN1	ENST00000541472,p.P568R|ENST00000561626,p.P590R|uc031swk.1,p.P590R|NM_001128636,p.P590R|ENST00000424383,p.P590R|uc010ksg.2,p.P590R	protein_coding	uc031swk.1	nonsynonymous SNV	exon1	c.C1769G	p.P590R	SESTSFQGVKSGPVSVAEPPLVLLS	SESTSFQGVKSGRVSVAEPPLVLLS	4.0	3.0	unscreened	-	4129_7:1786001-1786001 C>G_SESTSFQGVKSGRVSVAEPPLVLLS
11:82444314-82444314 T>A	0.0	4129	LUNG	-	-	-	-	FAM181B	NM_175885,p.Q153L|uc001ozp.3,p.Q153L|ENST00000329203,p.Q153L	protein_coding	uc001ozp.3	nonsynonymous SNV	exon1	c.A458T	p.Q153L	AHGKAAPRREASQAAAAASLQSRSL	AHGKAAPRREASLAAAAASLQSRSL	1.0	7.0	unscreened	-	4129_11:82444314-82444314 T>A_AHGKAAPRREASLAAAAASLQSRSL
15:48063206-48063206 C>A	0.0	4129	LUNG	-	-	-	-	SEMA6D	ENST00000389433,p.H797N|ENST00000389428,p.H741N|ENST00000358066,p.H754N|ENST00000537942,p.H754N|ENST00000389432,p.H773N|ENST00000316364,p.H816N|uc001zwb.3,p.H754N|uc001zvw.3,p.H754N|uc001zvy.3,p.H816N|ENST00000558014,p.H754N|NM_153618,p.H816N|uc001zwc.3,p.H741N|NM_020858,p.H754N|ENST00000354744,p.H760N|uc010bek.3,p.H816N|ENST00000536845,p.H816N|NM_153617,p.H760N|uc001zvz.3,p.H760N|NM_153616,p.H741N|NM_001198999,p.H754N	retained_intron, protein_coding	uc010bek.3	nonsynonymous SNV	exon19	c.C2446A	p.H816N	ETPQFFPSSPPPHSPLSHGHIPSAI	ETPQFFPSSPPPNSPLSHGHIPSAI	4.0	4.0	-	-	4129_15:48063206-48063206 C>A_ETPQFFPSSPPPNSPLSHGHIPSAI
7:31682595-31682595 C>A	0.0	4129	LUNG	-	-	-	-	CCDC129	ENST00000407970,p.D537E|uc011kae.3,p.D563E|ENST00000319386,p.D389E|NM_001257968,p.D563E|ENST00000409210,p.D445E|NM_194300,p.D537E|uc011kad.1,p.D547E|NM_001257967,p.D547E|ENST00000451887,p.D563E|uc003tcj.1,p.D537E|uc003tci.1,p.D388E|uc003tck.1,p.D445E	retained_intron, protein_coding, processed_transcript	uc011kae.3	nonsynonymous SNV	exon11	c.C1689A	p.D563E	AKTTTRGECPRKDSHLWQLLPMPHA	AKTTTRGECPRKESHLWQLLPMPHA	1.0	7.0	unscreened	-	4129_7:31682595-31682595 C>A_AKTTTRGECPRKESHLWQLLPMPHA
13:29600085-29600085 G>C	0.0	4129	LUNG	-	-	-	-	MTUS2	NM_001033602,p.C427S|ENST00000431530,p.C427S|uc001usl.4,p.C427S	retained_intron, protein_coding, processed_transcript	uc001usl.4	nonsynonymous SNV	exon1	c.G1280C	p.C427S	GADNQPTGKISPCAGEKLGERTSSS	GADNQPTGKISPSAGEKLGERTSSS	1.0	4.0	unscreened	-	4129_13:29600085-29600085 G>C_GADNQPTGKISPSAGEKLGERTSSS
5:42719077-42719077 G>T	0.0	4129	LUNG	-	-	-	-	GHR	NM_001242405,p.V490L|ENST00000537449,p.V303L|uc021xxz.1,p.V490L|ENST00000357703,p.V468L|NM_001242404,p.V490L|NM_001242403,p.V490L|uc021xxy.1,p.V490L|uc021xxv.1,p.V497L|NM_001242401,p.V490L|uc011cpq.2,p.V303L|uc021xyd.1,p.V468L|NM_001242402,p.V490L|uc021xxw.1,p.V490L|NM_000163,p.V490L|NM_001242406,p.V490L|uc003jmt.3,p.V490L|NM_001242460,p.V468L|uc003jmv.2,p.V490L|uc021xxx.1,p.V490L|NM_001242399,p.V497L|ENST00000230882,p.V490L|NM_001242400,p.V490L|uc021xya.1,p.V490L|uc003jmu.3,p.V490L	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xyd.1	nonsynonymous SNV	exon8	c.G1402T	p.V468L	PSSLSNIDFYAQVSDITPAGSVVLS	PSSLSNIDFYAQLSDITPAGSVVLS	3.0	7.0	-	-	4129_5:42719077-42719077 G>T_PSSLSNIDFYAQLSDITPAGSVVLS
20:62038023-62038023 C>A	0.0	4129	LUNG	-	-	-	-	KCNQ2	ENST00000360480,p.V837L|ENST00000357249,p.V847L|ENST00000359689,p.V865L|uc002yez.1,p.V834L|uc002yey.1,p.V865L|uc002yfb.1,p.V837L|ENST00000344462,p.V861L|uc002yfa.1,p.V847L|NM_172107,p.V865L|ENST00000430658,p.V834L|ENST00000359125,p.V865L|ENST00000354587,p.V873L|NM_172108,p.V834L|NM_172106,p.V847L|ENST00000370226,p.V835L|ENST00000370224,p.V873L|NM_004518,p.V837L	protein_coding, processed_transcript	uc002yfb.1	nonsynonymous SNV	exon15	c.G2509T	p.V837L	PRSATGEGPFGDVGWAGPRK	PRSATGEGPFGDLGWAGPRK	1.0	3.0	unscreened	-	4129_20:62038023-62038023 C>A_PRSATGEGPFGDLGWAGPRK
8:77616490-77616490 G>T	0.0	4129	LUNG	-	-	-	-	ZFHX4	ENST00000523885,p.R56L|ENST00000517585,p.R56L|NM_024721,p.R56L|ENST00000523809,p.R56L|uc003yaw.1,p.R56L|ENST00000518282,p.R56L|uc003yat.1,p.R56L|uc003yau.2,p.R56L|ENST00000521891,p.R56L|ENST00000520307,p.R56L|ENST00000455469,p.R56L|ENST00000050961,p.R56L	retained_intron, protein_coding, nonsense_mediated_decay	uc003yaw.1	nonsynonymous SNV	exon1	c.G167T	p.R56L	NSSTDDNLKTDERKSEALLGFSVEN	NSSTDDNLKTDELKSEALLGFSVEN	3.0	3.0	unscreened	-	4129_8:77616490-77616490 G>T_NSSTDDNLKTDELKSEALLGFSVEN
1:34006269-34006269 G>T	0.0	4129	LUNG	-	-	-	-	CSMD2	NM_001281956,p.P3163T|NM_052896,p.P3019T|ENST00000241312,p.P3019T|uc001bxn.1,p.P3019T|uc001bxm.1,p.P3163T|ENST00000373381,p.P3163T	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxn.1	nonsynonymous SNV	exon59	c.C9055A	p.P3019T	CKALMCKPPPLIPNGKVVGSDFMWG	CKALMCKPPPLITNGKVVGSDFMWG	2.0	3.0	unscreened	-	4129_1:34006269-34006269 G>T_CKALMCKPPPLITNGKVVGSDFMWG
8:3165343-3165343 G>A	0.0	4129	LUNG	-	-	-	-	CSMD1	NM_033225,p.A1275V|ENST00000539096,p.A1275V|ENST00000542608,p.A1275V|ENST00000602557,p.A1276V|ENST00000537824,p.A1275V|uc011kwj.2,p.A668V|ENST00000400186,p.A1276V|ENST00000520002,p.A1276V|uc022aqr.1,p.A1275V|ENST00000602723,p.A1276V|uc003wqe.3,p.A432V	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon25	c.C3824T	p.A1275V	RRVWDKPLPSCIAECGGQIHAATSG	RRVWDKPLPSCIVECGGQIHAATSG	1.0	6.0	unscreened	-	4129_8:3165343-3165343 G>A_RRVWDKPLPSCIVECGGQIHAATSG
7:1786000-1786000 C>A	0.0	4129	LUNG	-	-	-	-	ELFN1	ENST00000424383,p.P590T|NM_001128636,p.P590T|ENST00000541472,p.P568T|uc031swk.1,p.P590T|uc010ksg.2,p.P590T|ENST00000561626,p.P590T	protein_coding	uc031swk.1	nonsynonymous SNV	exon1	c.C1768A	p.P590T	SESTSFQGVKSGPVSVAEPPLVLLS	SESTSFQGVKSGTVSVAEPPLVLLS	4.0	3.0	unscreened	-	4129_7:1786000-1786000 C>A_SESTSFQGVKSGTVSVAEPPLVLLS
8:41166361-41166361 G>C	0.0	4129	LUNG	-	-	-	-	SFRP1	NM_003012,p.H106Q|ENST00000220772,p.H106Q|uc003xnt.3,p.H106Q	protein_coding	uc003xnt.3	nonsynonymous SNV	exon1	c.C318G	p.H106Q	ASSWVPLLNKNCHAGTQVFLCSLFA	ASSWVPLLNKNCQAGTQVFLCSLFA	3.0	7.0	-	-	4129_8:41166361-41166361 G>C_ASSWVPLLNKNCQAGTQVFLCSLFA
19:57286508-57286508 G>T	0.0	4129	LUNG	-	-	-	-	ZIM2	uc010ygr.1,p.H174N|uc002qnq.2,p.H378N|uc010ygq.1,p.H174N|NM_001146326,p.H378N|ENST00000599935,p.H378N|ENST00000391708,p.H378N|uc010ygs.1,p.H378N|NM_001146327,p.H378N|uc002qnr.2,p.H378N|NM_015363,p.H378N|ENST00000221722,p.H378N|uc010etp.2,p.H378N|ENST00000601070,p.H378N|ENST00000593711,p.H378N	retained_intron, protein_coding, nonsense_mediated_decay	uc010ygs.1	nonsynonymous SNV	exon11	c.C1132A	p.H378N	YLMPHLNRHQKTHSGRKTSGCNEGR	YLMPHLNRHQKTNSGRKTSGCNEGR	1.0	8.0	-	-	4129_19:57286508-57286508 G>T_YLMPHLNRHQKTNSGRKTSGCNEGR
7:100377129-100377129 G>-	0.0	4129	LUNG	-	-	-	-	ZAN	ENST00000542585,p.G2126fs|uc003uwk.3,p.G2126fs|uc011kke.2,p.G214fs|ENST00000546292,p.G2126fs|ENST00000546213,p.G637fs|uc003uwj.3,p.G2126fs|ENST00000538115,p.G2126fs	protein_coding, polymorphic_pseudogene	uc011kke.2	frameshift deletion	exon5	c.640delG	p.G214fs	QQIPAEQQENPSGNCRAADLRRARE	QQIPAEQQENPSETAGRPTSAGRGKSARQRSGLLCGPSAPPA	1.0	5.0	unscreened	-	4129_7:100377129-100377129 G>-_QQIPAEQQENPSETAGRPTSAGRGKSARQRSGLLCGPSAPPA
16:26147274-26147274 G>A	0.0	4129	LUNG	-	-	-	-	HS3ST4	uc002dof.3,p.R359Q|NM_006040,p.R359Q|ENST00000331351,p.R359Q	protein_coding, processed_transcript	uc002dof.3	nonsynonymous SNV	exon2	c.G1076A	p.R359Q	FPLSQILFVSGERLIVDPAGEMAKV	FPLSQILFVSGEQLIVDPAGEMAKV	1.0	7.0	-	-	4129_16:26147274-26147274 G>A_FPLSQILFVSGEQLIVDPAGEMAKV
2:186656841-186656841 G>A	0.0	4129	LUNG	-	-	-	-	FSIP2	ENST00000424728,p.V1660M|ENST00000343098,p.V1749M|uc002upl.3,p.V1749M|NM_173651,p.V1749M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon16	c.G5245A	p.V1749M	SAILKVIQTELNVTSSDLKTSVENP	SAILKVIQTELNMTSSDLKTSVENP	3.0	7.0	-	-	4129_2:186656841-186656841 G>A_SAILKVIQTELNMTSSDLKTSVENP
2:179413378-179413378 C>T	0.0	4129	LUNG	-	-	-	-	TTN	uc031rqc.1,p.G30992E|ENST00000591111,p.G29351E|uc021vsy.2,p.G28424E|uc021vsz.2,p.G22119E|uc031rqd.1,p.G29351E|ENST00000359218,p.G22052E|ENST00000589042,p.G30992E|NM_133432,p.G22052E|uc021vtb.2,p.G21927E|NM_003319,p.G21927E|NM_001267550,p.G30992E|NM_001256850,p.G29351E|NM_133378,p.G28424E|uc021vta.2,p.G22052E|ENST00000460472,p.G21927E|ENST00000342175,p.G22119E|NM_133437,p.G22119E|ENST00000342992,p.G28424E	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon289	c.G88052A	p.G29351E	TLTVENCNRNDAGKYTLTVENNSGS	TLTVENCNRNDAEKYTLTVENNSGS	1.0	6.0	-	-	4129_2:179413378-179413378 C>T_TLTVENCNRNDAEKYTLTVENNSGS
11:280246-280246 C>A	0.0	4129	LUNG	-	-	-	-	NLRP6	uc010qvs.3,p.P171Q|ENST00000534750,p.P171Q|uc010qvt.3,p.P171Q|NM_138329,p.P171Q|NM_001276700,p.P171Q|ENST00000312165,p.P171Q	retained_intron, protein_coding	uc010qvt.3	nonsynonymous SNV	exon4	c.C512A	p.P171Q	PEEAMGPAEEPEPGRARRSDTHTFN	PEEAMGPAEEPEQGRARRSDTHTFN	1.0	7.0	unscreened	-	4129_11:280246-280246 C>A_PEEAMGPAEEPEQGRARRSDTHTFN
12:130184566-130184566 C>A	0.0	4129	LUNG	-	-	-	-	TMEM132D	NM_133448,p.G253C|uc009zyl.1,p.G253C|ENST00000422113,p.G253C	protein_coding	uc009zyl.1	nonsynonymous SNV	exon2	c.G757T	p.G253C	REDARRSNGIRTGHSDIDESGPPLQ	REDARRSNGIRTCHSDIDESGPPLQ	1.0	4.0	unscreened	-	4129_12:130184566-130184566 C>A_REDARRSNGIRTCHSDIDESGPPLQ
2:155711487-155711487 G>A	0.0	4129	LUNG	-	-	-	-	KCNJ3	NM_002239,p.D390N|uc002tyv.2,p.D390N|ENST00000295101,p.D390N	protein_coding, processed_transcript	uc002tyv.2	nonsynonymous SNV	exon3	c.G1168A	p.D390N	NSKERHNSVECLDGLDDITTKLPSK	NSKERHNSVECLNGLDDITTKLPSK	1.0	5.0	unscreened	-	4129_2:155711487-155711487 G>A_NSKERHNSVECLNGLDDITTKLPSK
19:57325314-57325314 T>A	0.0	4129	LUNG	-	-	-	-	PEG3	ENST00000423103,p.Q1499L|uc002qnu.2,p.Q1499L|NM_001146184,p.Q1499L|NM_001146187,p.Q1375L|ENST00000326441,p.Q1499L|NM_006210,p.Q1499L|ENST00000593695,p.Q1373L|uc002qnx.2,p.Q1373L|uc002qnw.2,p.Q1375L|ENST00000599577,p.Q1499L|ENST00000599534,p.Q1499L|NM_001146185,p.Q1373L|uc010etr.2,p.Q1499L|uc002qnv.2,p.Q1499L|NM_001146186,p.Q1499L|uc002qnt.2,p.Q1470L|ENST00000598410,p.Q1375L	protein_coding, processed_transcript	uc010etr.2	nonsynonymous SNV	exon9	c.A4496T	p.Q1499L	IEDPEEGEDQEIQVEEPYYDCHECT	IEDPEEGEDQEILVEEPYYDCHECT	4.0	6.0	-	-	4129_19:57325314-57325314 T>A_IEDPEEGEDQEILVEEPYYDCHECT
X:107929279-107929279 G>A	0.0	4129	LUNG	-	-	-	-	COL4A5	ENST00000361603,p.G1406E|ENST00000328300,p.G1412E|uc022ccg.2,p.G1412E|NM_000495,p.G1406E	retained_intron, protein_coding, processed_transcript	uc022ccg.2	nonsynonymous SNV	exon48	c.G4235A	p.G1412E	GPQGLPGPTGPPGDPGRNGLPGFDG	GPQGLPGPTGPPEDPGRNGLPGFDG	4.0	4.0	unscreened	-	4129_X:107929279-107929279 G>A_GPQGLPGPTGPPEDPGRNGLPGFDG
17:45300400-45300400 T>A	0.0	4129	LUNG	-	-	-	-	MYL4	ENST00000354968,p.S196T|ENST00000393450,p.S196T|uc002ilh.3,p.S196T|uc002ilg.3,p.S196T|NM_002476,p.S196T|ENST00000536623,p.S196T|NM_001002841,p.S196T|ENST00000572316,p.S196T	protein_coding, nonsense_mediated_decay	uc002ilh.3	nonsynonymous SNV	exon6	c.T586A	p.S196T	CINYEAFVKHIMSG	CINYEAFVKHIMTG	4.0	3.0	unscreened	-	4129_17:45300400-45300400 T>A_CINYEAFVKHIMTG
5:26915854-26915854 C>T	0.0	4129	LUNG	-	-	-	-	CDH9	uc010iug.3,p.G136E|NM_016279,p.G136E|ENST00000231021,p.G136E|uc003jgs.1,p.G136E	retained_intron, protein_coding	uc010iug.3	nonsynonymous SNV	exon3	c.G407A	p.G136E	YILRAKAIDRKTGRQVEPESEFIIK	YILRAKAIDRKTERQVEPESEFIIK	1.0	6.0	unscreened	-	4129_5:26915854-26915854 C>T_YILRAKAIDRKTERQVEPESEFIIK
11:30928243-30928243 C>A	0.0	4129	LUNG	-	-	-	-	DCDC5	uc009yjk.1,p.K764N|ENST00000339794,p.K395N|uc021qfk.1,p.K423N|ENST00000597505,p.K1316N|NM_020869,p.K423N|ENST00000406071,p.K51N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qfk.1	nonsynonymous SNV	exon11	c.G1269T	p.K423N	DQPGYCYLSPDGKRKTMLCLACGQS	DQPGYCYLSPDGNRKTMLCLACGQS	1.0	4.0	unscreened	-	4129_11:30928243-30928243 C>A_DQPGYCYLSPDGNRKTMLCLACGQS
X:107929279-107929279 G>A	0.0	4129	LUNG	-	-	-	-	COL4A5	uc004enz.2,p.G1406E	retained_intron, protein_coding, processed_transcript	uc004enz.2	nonsynonymous SNV	exon46	c.G4217A	p.G1406E	GLPGPQGPQGLPGPTGPPGDPGRNG	GLPGPQGPQGLPEPTGPPGDPGRNG	4.0	4.0	unscreened	-	4129_X:107929279-107929279 G>A_GLPGPQGPQGLPEPTGPPGDPGRNG
X:30236808-30236808 G>T	0.0	4129	LUNG	-	-	-	-	MAGEB2	ENST00000378988,p.E37D|uc004dbz.3,p.E37D|NM_002364,p.E37D|uc022buf.1,p.E37D	protein_coding	uc022buf.1	nonsynonymous SNV	exon1	c.G111T	p.E37D	LNVPQVTEAEEEEAPCCSSSVSGGA	LNVPQVTEAEEEDAPCCSSSVSGGA	2.0	7.0	unscreened	-	4129_X:30236808-30236808 G>T_LNVPQVTEAEEEDAPCCSSSVSGGA
2:176948390-176948390 C>T	0.0	4129	LUNG	-	-	-	-	EVX2	uc010zeu.2,p.A39T|NM_001080458,p.A39T|ENST00000308618,p.A39T	protein_coding	uc010zeu.2	nonsynonymous SNV	exon1	c.G115A	p.A39T	NLSNSAGNAVLEALENSQHPARLSP	NLSNSAGNAVLETLENSQHPARLSP	1.0	6.0	unscreened	-	4129_2:176948390-176948390 C>T_NLSNSAGNAVLETLENSQHPARLSP
16:55983697-55983697 C>A	0.0	4129	LUNG	-	-	-	-	CES5A	ENST00000521992,p.G54W|uc021tir.1,p.G54W|NM_001190158,p.G54W	protein_coding, processed_transcript, nonsense_mediated_decay	uc021tir.1	nonsynonymous SNV	exon2	c.G160T	p.G54W	RIDVLNYTSKDEGPSAEGPQRNTRL	RIDVLNYTSKDEWPSAEGPQRNTRL	1.0	5.0	unscreened	-	4129_16:55983697-55983697 C>A_RIDVLNYTSKDEWPSAEGPQRNTRL
6:31938545-31938545 C>T	1.0	4134	LUNG	-	-	-	-	DXO	ENST00000375356,p.C217Y|ENST00000337523,p.C217Y|uc003nyp.1,p.C217Y|ENST00000375349,p.C217Y|NM_005510,p.C217Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003nyp.1	nonsynonymous SNV	exon4	c.G650A	p.C217Y	DPSGEVNTNVAFCSVLRSRLGSHPL	DPSGEVNTNVAFYSVLRSRLGSHPL	8.0	5.0	unscreened	-	4134_6:31938545-31938545 C>T_DPSGEVNTNVAFYSVLRSRLGSHPL
7:150725677-150725677 C>G	1.0	4134	LUNG	-	-	-	-	ABCB8	uc003wii.2,p.F25L|ENST00000356058,p.F25L|ENST00000461373,p.F25L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003wii.2	nonsynonymous SNV	exon1	c.C75G	p.F25L	GPFPGRLLPPLRFQTFSAVRRLLRL	GPFPGRLLPPLRLQTFSAVRRLLRL	7.0	6.0	-	-	4134_7:150725677-150725677 C>G_GPFPGRLLPPLRLQTFSAVRRLLRL
7:150725677-150725677 C>G	1.0	4134	LUNG	-	-	-	-	ABCB8	uc003wik.4,p.F25L|ENST00000498578,p.F25L|ENST00000477092,p.F25L|NM_001282292,p.F25L|ENST00000477719,p.F25L|ENST00000358849,p.F25L|NM_007188,p.F25L|uc010lpx.3,p.F25L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lpx.3	nonsynonymous SNV	exon1	c.C75G	p.F25L	GPFPGRLLPPLRFQTFSAVRYSDGY	GPFPGRLLPPLRLQTFSAVRYSDGY	7.0	6.0	-	-	4134_7:150725677-150725677 C>G_GPFPGRLLPPLRLQTFSAVRYSDGY
3:52802401-52802401 C>G	1.0	4134	LUNG	-	-	-	-	NEK4	ENST00000233027,p.E105Q|uc003dfr.3,p.E105Q|uc003dfq.4,p.E105Q|ENST00000383721,p.E105Q|NM_003157,p.E105Q	retained_intron, protein_coding, nonsense_mediated_decay	uc003dfr.3	nonsynonymous SNV	exon2	c.G313C	p.E105Q	RKLKEQKGQLLPENQVVEWFVQIAM	RKLKEQKGQLLPQNQVVEWFVQIAM	6.0	10.0	-	-	4134_3:52802401-52802401 C>G_RKLKEQKGQLLPQNQVVEWFVQIAM
7:150725677-150725677 C>G	1.0	4134	LUNG	-	-	-	-	ABCB8	ENST00000297504,p.F25L|NM_001282291,p.F25L|uc003wil.4,p.F25L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003wil.4	nonsynonymous SNV	exon1	c.C75G	p.F25L	GPFPGRLLPPLRFQTFSAVRNTWRN	GPFPGRLLPPLRLQTFSAVRNTWRN	7.0	6.0	-	-	4134_7:150725677-150725677 C>G_GPFPGRLLPPLRLQTFSAVRNTWRN
19:4793589-4793589 ->AC	1.0	4134	LUNG	-	-	-	-	FEM1A	uc002mbf.3,p.D575fs|ENST00000269856,p.D575fs|NM_018708,p.D575fs	protein_coding	uc002mbf.3	frameshift insertion	exon1	c.1723_1724insAC	p.D575fs	VVKVLLDCGADPDSRDFDNNTPLHI	VVKVLLDCGADPDTAGILTTTPRYT	6.0	4.0	-	-	4134_19:4793589-4793589 ->AC_VVKVLLDCGADPDTAGILTTTPRYT
14:100934379-100934379 G>A	1.0	4134	LUNG	-	-	ID=COSM949303;OCCURENCE=3(endometrium)	-	WDR25	NM_001161476,p.G282R|uc001yhn.3,p.G282R|ENST00000402312,p.G282R|ENST00000554998,p.G282R|ENST00000335290,p.G282R|uc010avx.3,p.G282R|NM_024515,p.G282R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010avx.3	nonsynonymous SNV	exon3	c.G844A	p.G282R	DKTFKVWNAVDSGHCLQTYSLHTEA	DKTFKVWNAVDSRHCLQTYSLHTEA	8.0	3.0	unscreened	-	4134_14:100934379-100934379 G>A_DKTFKVWNAVDSRHCLQTYSLHTEA
4:125592226-125592226 C>A	1.0	4134	LUNG	-	-	-	-	ANKRD50	NM_001167882,p.D557Y|uc011cgo.2,p.D557Y|ENST00000515641,p.D557Y|NM_020337,p.D736Y|ENST00000504087,p.D736Y|uc010inw.3,p.D736Y	protein_coding	uc011cgo.2	nonsynonymous SNV	exon3	c.G1669T	p.D557Y	SKGHASVVSLLIDRGAEVDHCDKDG	SKGHASVVSLLIYRGAEVDHCDKDG	6.0	4.0	-	-	4134_4:125592226-125592226 C>A_SKGHASVVSLLIYRGAEVDHCDKDG
1:215751071-215751071 G>C	1.0	4134	LUNG	-	-	-	-	KCTD3	NM_016121,p.V106L|uc001hks.3,p.V106L|ENST00000259154,p.V106L|uc001hkt.3,p.V106L	protein_coding, processed_transcript	uc001hkt.3	nonsynonymous SNV	exon5	c.G316C	p.V106L	RHEAEFYGITPLVRRLLLCEELERS	RHEAEFYGITPLLRRLLLCEELERS	10.0	1.0	unscreened	-	4134_1:215751071-215751071 G>C_RHEAEFYGITPLLRRLLLCEELERS
1:214571328-214571355 CAGTTTCCATGATTGTCCTGGGTAAGAC>-	0.0	4134	LUNG	-	-	-	-	PTPN14	uc010pty.2,p.D125fs|ENST00000366956,p.D224fs|uc001hkk.2,p.D224fs|NM_005401,p.D224fs	protein_coding, processed_transcript	uc010pty.2	frameshift deletion	exon7	c.373_389del	p.D125fs	LDGFGQEIFPVKDNHGNCVHLGIFF	LDGFGQEIFPVKCTPWHFLYGDFREEQNWKTSGNIQVE	8.0	1.0	unscreened	-	4134_1:214571328-214571355 CAGTTTCCATGATTGTCCTGGGTAAGAC>-_LDGFGQEIFPVKCTPWHFLYGDFREEQNWKTSGNIQVE
9:109687591-109687591 G>C	0.0	4134	LUNG	-	-	-	-	ZNF462	NM_021224,p.K466N|uc004bcz.3,p.K466N|ENST00000277225,p.K466N|uc004bda.3,p.K314N|uc010mto.3,p.K314N|ENST00000457913,p.K466N	protein_coding, processed_transcript	uc010mto.3	nonsynonymous SNV	exon1	c.G942C	p.K314N	ISRHIENIHLSGKTAVYKCDECPFT	ISRHIENIHLSGNTAVYKCDECPFT	7.0	8.0	-	-	4134_9:109687591-109687591 G>C_ISRHIENIHLSGNTAVYKCDECPFT
8:59494252-59494252 C>T	1.0	4134	LUNG	-	-	-	-	SDCBP	ENST00000413219,p.P284S|NM_005625,p.P284S|uc003xtr.3,p.P283S|NM_001007070,p.P283S|NM_001007069,p.P283S|uc003xts.4,p.P304S|uc003xto.3,p.P283S|NM_001007068,p.P278S|ENST00000447267,p.P230S|ENST00000520168,p.P225S|ENST00000422546,p.P283S|ENST00000260130,p.P284S|uc003xtn.3,p.P284S|ENST00000424270,p.P278S|uc003xtp.3,p.P278S|NM_001007067,p.P284S|uc011led.2,p.P225S|uc003xtq.3,p.P284S|ENST00000447182,p.P283S|ENST00000523483,p.P304S	retained_intron, protein_coding, processed_transcript	uc011led.2	nonsynonymous SNV	exon8	c.C673T	p.P225S	AFIFEHIIKRMAPSIMKSLMDHTIP	AFIFEHIIKRMASSIMKSLMDHTIP	10.0	6.0	-	-	4134_8:59494252-59494252 C>T_AFIFEHIIKRMASSIMKSLMDHTIP
8:133854776-133854776 G>T	1.0	4134	LUNG	-	-	-	-	PHF20L1	ENST00000395386,p.D802Y|NM_016018,p.D802Y|NM_001277196,p.D776Y|uc011lja.2,p.D776Y|ENST00000220847,p.D189Y|ENST00000395390,p.D777Y|uc003ytt.3,p.D802Y	retained_intron, protein_coding, nonsense_mediated_decay	uc011lja.2	nonsynonymous SNV	exon18	c.G2326T	p.D776Y	LKIGILKNKHHPDLHLWACSGKRKD	LKIGILKNKHHPYLHLWACSGKRKD	10.0	5.0	-	-	4134_8:133854776-133854776 G>T_LKIGILKNKHHPYLHLWACSGKRKD
14:100934379-100934379 G>A	1.0	4134	LUNG	-	-	ID=COSM949303;OCCURENCE=3(endometrium)	-	WDR25	uc001yho.3,p.G25R|ENST00000542471,p.G25R	protein_coding, processed_transcript, nonsense_mediated_decay	uc001yho.3	nonsynonymous SNV	exon2	c.G73A	p.G25R	GLLGEVWNAVDSGHCLQTYSLHTEA	GLLGEVWNAVDSRHCLQTYSLHTEA	8.0	3.0	unscreened	-	4134_14:100934379-100934379 G>A_GLLGEVWNAVDSRHCLQTYSLHTEA
7:116340222-116340222 A>T	1.0	4134	LUNG	-	-	-	1	MET	ENST00000436117,p.M362L|uc010lkh.3,p.M362L|uc011knh.1,p.M362L|uc011kng.1,p.M362L|NM_001127500,p.M362L|uc011kmz.1,p.M362L|uc010lkg.3,p.M362L|uc003vij.3,p.M362L|uc011kna.1,p.M362L|uc011kni.2,p.M362L|uc003vii.1,p.M381L|uc011knf.2,p.M362L|uc011knc.1,p.M362L|uc011kne.2,p.M362L|uc011knb.1,p.M362L|NM_000245,p.M362L|ENST00000397752,p.M362L|uc022akk.1,p.M362L|ENST00000318493,p.M362L|uc011knd.2,p.M362L	protein_coding, processed_transcript	uc022akk.1	nonsynonymous SNV	exon2	c.A1084T	p.M362L	KPDSAEPMDRSAMCAFPIKYVNDFF	KPDSAEPMDRSALCAFPIKYVNDFF	9.0	4.0	-	-	4134_7:116340222-116340222 A>T_KPDSAEPMDRSALCAFPIKYVNDFF
12:123072294-123072294 C>T	0.0	4134	LUNG	-	-	-	-	KNTC1	ENST00000333479,p.S1256F|NM_014708,p.S1256F|uc001ucv.3,p.S1256F	retained_intron, protein_coding, processed_transcript	uc001ucv.3	nonsynonymous SNV	exon39	c.C3767T	p.S1256F	GDGLVLPVINSISALLQNLQESSQW	GDGLVLPVINSIFALLQNLQESSQW	9.0	2.0	-	-	4134_12:123072294-123072294 C>T_GDGLVLPVINSIFALLQNLQESSQW
6:54806548-54806548 C>T	1.0	4134	LUNG	-	-	-	-	FAM83B	ENST00000306858,p.H927Y|NM_001010872,p.H927Y|uc003pck.4,p.H927Y	protein_coding	uc003pck.4	nonsynonymous SNV	exon5	c.C2779T	p.H927Y	SPRPTSSELLRSHSTDRRVYSRFEP	SPRPTSSELLRSYSTDRRVYSRFEP	6.0	2.0	-	-	4134_6:54806548-54806548 C>T_SPRPTSSELLRSYSTDRRVYSRFEP
10:13386845-13386845 C>T	1.0	4134	LUNG	-	-	-	-	SEPHS1	ENST00000545675,p.D36N|uc021pnc.1,p.D36N|ENST00000413411,p.D36N|ENST00000327347,p.D36N|uc021pnd.1,p.D36N|ENST00000378614,p.D36N|uc009xje.3,p.D36N|uc001imk.3,p.D36N|NM_001195604,p.D36N|NM_012247,p.D36N	protein_coding, processed_transcript	uc021pnd.1	nonsynonymous SNV	exon2	c.G106A	p.D36N	TELKGTGCKVPQDVLQKLLESLQEN	TELKGTGCKVPQNVLQKLLESLQEN	9.0	7.0	-	-	4134_10:13386845-13386845 C>T_TELKGTGCKVPQNVLQKLLESLQEN
7:150725677-150725677 C>G	1.0	4134	LUNG	-	-	-	-	ABCB8	ENST00000542328,p.P42A|NM_001282293,p.P42A|uc011kvd.2,p.P42A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kvd.2	nonsynonymous SNV	exon1	c.C124G	p.P42A	PIPRQAATAPPLPDILSCQLALGAA	PIPRQAATAPPLADILSCQLALGAA	7.0	6.0	-	-	4134_7:150725677-150725677 C>G_PIPRQAATAPPLADILSCQLALGAA
12:25398284-25398284 C>A	1.0	4134	LUNG	-	-	ID=COSM1140133,COSM520;OCCURENCE=24(skin),10(breast),24(small_intestine),17(urinary_tract),2(genital_tract),2(kidney),1(eye),5(liver),1402(pancreas),39(prostate),110(biliary_tract),4060(large_intestine),1(autonomic_ganglia),245(ovary),4(soft_tissue),102(endometrium),13(thyroid),13(peritoneum),878(lung),6(testis),8(cervix),36(haematopoietic_and_lymphoid_tissue),2(pleura),9(gastrointestinal_tract_(site_indeterminate)),1(central_nervous_system),32(stomach),2(thymus),3(upper_aerodigestive_tract),4(oesophagus)	1	KRAS	ENST00000311936,p.G12V|ENST00000557334,p.G12V|ENST00000256078,p.G12V|uc001rgp.1,p.G12V|ENST00000556131,p.G12V|uc001rgq.1,p.G12V|NM_033360,p.G12V|NM_004985,p.G12V	protein_coding	uc001rgq.1	nonsynonymous SNV	exon2	c.G35T	p.G12V	MTEYKLVVVGAGGVGKSALTIQLI	MTEYKLVVVGAVGVGKSALTIQLI	7.0	10.0	-	-	4134_12:25398284-25398284 C>A_MTEYKLVVVGAVGVGKSALTIQLI
2:145155967-145155967 C>T	0.0	4134	LUNG	-	-	-	-	ZEB2	ENST00000558170,p.M929I|ENST00000409487,p.M929I|uc010zbm.2,p.M905I|ENST00000303660,p.M929I|ENST00000539609,p.M905I|uc010fnq.1,p.M958I|uc002tvv.3,p.M923I|NM_014795,p.M929I|NM_001171653,p.M905I|uc002tvu.3,p.M929I	retained_intron, protein_coding, processed_transcript	uc010zbm.2	nonsynonymous SNV	exon7	c.G2715A	p.M905I	IPGLRPYPGLDQMSFLPHMAYTYPT	IPGLRPYPGLDQISFLPHMAYTYPT	7.0	3.0	-	-	4134_2:145155967-145155967 C>T_IPGLRPYPGLDQISFLPHMAYTYPT
6:34214319-34214319 G>T	1.0	4134	LUNG	-	-	-	-	C6orf1	uc003oji.4,p.A131E|ENST00000481533,p.A151E|uc003ojg.3,p.A151E|ENST00000468145,p.A151E|uc003ojh.3,p.A151E|NM_001287398,p.A131E|NM_178508,p.A151E|ENST00000413013,p.A131E|ENST00000394990,p.A151E|NM_001287397,p.A131E|ENST00000476320,p.A151E|NM_001287396,p.A151E|ENST00000335352,p.A131E|uc003ojf.3,p.A151E|NM_001008704,p.A151E|NM_001008703,p.A151E	retained_intron, protein_coding	uc003oji.4	nonsynonymous SNV	exon4	c.C392A	p.A131E	ALMGRGFPSGMGAAGRHLCFL	ALMGRGFPSGMGEAGRHLCFL	10.0	3.0	-	-	4134_6:34214319-34214319 G>T_ALMGRGFPSGMGEAGRHLCFL
6:1313037-1313037 C>T	1.0	4134	LUNG	-	-	-	-	FOXQ1	uc003mtl.4,p.S33L|NM_033260,p.S33L|ENST00000296839,p.S33L	protein_coding	uc003mtl.4	nonsynonymous SNV	exon1	c.C98T	p.S33L	EGAGGSDAPSPLSAAGDDSLGSDGD	EGAGGSDAPSPLLAAGDDSLGSDGD	8.0	6.0	-	-	4134_6:1313037-1313037 C>T_EGAGGSDAPSPLLAAGDDSLGSDGD
6:30864578-30864578 G>A	1.0	4134	LUNG	-	-	-	-	DDR1	ENST00000508312,p.R583K|ENST00000376568,p.R602K|uc003nru.3,p.R565K|ENST00000418800,p.R565K|uc011dms.2,p.R583K|uc003nrv.3,p.R602K|ENST00000361741,p.R269K|ENST00000417521,p.R334K|uc003nrw.1,p.R337K|uc003nrt.3,p.R565K|ENST00000324771,p.R602K|ENST00000376569,p.R565K|ENST00000376567,p.R565K|ENST00000376570,p.R565K|NM_001202523,p.R583K|uc003nrs.3,p.R602K|NM_013994,p.R602K|ENST00000376575,p.R602K|uc003nrr.3,p.R602K|NM_013993,p.R602K|uc010jse.3,p.R565K|ENST00000513240,p.R602K|uc003nrq.3,p.R565K|NM_001297654,p.R602K|NM_001297653,p.R565K|ENST00000454612,p.R565K|NM_001297652,p.R565K|ENST00000452441,p.R602K|NM_001954,p.R565K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dms.2	nonsynonymous SNV	exon12	c.G1748A	p.R583K	ALPPGAVGDGPPRVDFPRSRLRFKE	ALPPGAVGDGPPKVDFPRSRLRFKE	10.0	6.0	-	-	4134_6:30864578-30864578 G>A_ALPPGAVGDGPPKVDFPRSRLRFKE
7:102040046-102040046 G>A	1.0	4134	LUNG	-	-	ID=COSM1083489,COSM1083490;OCCURENCE=1(endometrium)	-	PRKRIP1	NM_024653,p.R86H|uc003uzh.2,p.R86H|uc011kkr.1,p.R86H|ENST00000354783,p.R48H|ENST00000496391,p.R86H|uc011kkq.1,p.R29H|ENST00000397912,p.R86H|ENST00000462601,p.R29H	retained_intron, protein_coding, processed_transcript	uc011kkr.1	nonsynonymous SNV	exon3	c.G257A	p.R86H	AGSGEFHVYRHLRRREYQRQDYMDA	AGSGEFHVYRHLHRREYQRQDYMDA	8.0	5.0	unscreened	-	4134_7:102040046-102040046 G>A_AGSGEFHVYRHLHRREYQRQDYMDA
6:170889182-170889182 C>T	1.0	4134	LUNG	-	-	ID=COSM595312;OCCURENCE=1(lung)	-	PDCD2	uc003qxv.3,p.E191K|uc003qxw.3,p.E224K|ENST00000542896,p.E224K|NM_002598,p.E224K|NM_001199462,p.E191K|ENST00000392090,p.E191K|uc003qxx.2,p.E224K|ENST00000541970,p.E224K	retained_intron, protein_coding, nonsense_mediated_decay	uc003qxx.2	nonsynonymous SNV	exon4	c.G670A	p.E224K	YSEIIGSMGEALEEELDSMAKHESR	YSEIIGSMGEALKEELDSMAKHESR	9.0	9.0	-	-	4134_6:170889182-170889182 C>T_YSEIIGSMGEALKEELDSMAKHESR
17:37901554-37901554 C>G	1.0	4134	LUNG	-	-	ID=COSM417558;OCCURENCE=1(urinary_tract)	-	GRB7	uc010cwc.3,p.S357C|NM_005310,p.S357C|ENST00000309185,p.S357C|NM_001242443,p.S357C|uc021twu.1,p.S380C|uc002hss.3,p.S357C|ENST00000394204,p.S357C|ENST00000309156,p.S357C|uc002hsr.3,p.S357C|ENST00000394209,p.S357C|uc002hst.3,p.S357C|ENST00000394211,p.S357C|NM_001242442,p.S380C|ENST00000445327,p.S380C|NM_001030002,p.S357C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021twu.1	nonsynonymous SNV	exon10	c.C1139G	p.S380C	NYQQAQSRHLHPSCLGSPPLRSASD	NYQQAQSRHLHPCCLGSPPLRSASD	9.0	9.0	CD8	-	4134_17:37901554-37901554 C>G_NYQQAQSRHLHPCCLGSPPLRSASD
13:77754264-77754264 C>T	1.0	4134	LUNG	-	-	-	-	MYCBP2	uc021rks.1,p.E1711K|ENST00000357337,p.E1673K|ENST00000544440,p.E1673K|NM_015057,p.E1711K|uc010aev.3,p.E1077K|ENST00000407578,p.E1711K	protein_coding, processed_transcript	uc021rks.1	nonsynonymous SNV	exon34	c.G5131A	p.E1711K	IVSELTASALGSEVDGLNSLHSVKA	IVSELTASALGSKVDGLNSLHSVKA	9.0	10.0	-	-	4134_13:77754264-77754264 C>T_IVSELTASALGSKVDGLNSLHSVKA
3:9874797-9874797 G>C	0.0	4134	LUNG	-	-	-	-	TTLL3	uc003bth.4,p.E310Q|ENST00000547186,p.E522Q|uc003bti.4,p.E310Q|ENST00000426895,p.E665Q|NM_001025930,p.E665Q|uc003btg.4,p.E665Q|ENST00000443148,p.E460Q|uc011atj.2,p.E458Q|ENST00000430793,p.E310Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011atj.2	nonsynonymous SNV	exon8	c.G1372C	p.E458Q	GAFELIYKQPAVEVPQYVGIRLLVE	GAFELIYKQPAVQVPQYVGIRLLVE	8.0	10.0	unscreened	-	4134_3:9874797-9874797 G>C_GAFELIYKQPAVQVPQYVGIRLLVE
19:1067445-1067445 C>A	0.0	4134	LUNG	-	-	-	-	HMHA1	ENST00000313093,p.S14Y|ENST00000590214,p.S14Y|NM_012292,p.S14Y|uc002lqz.2,p.S14Y|ENST00000587602,p.S14Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lqz.2	nonsynonymous SNV	exon1	c.C41A	p.S14Y	FSRKKRELMKTPSISKKNRAGSPSP	FSRKKRELMKTPYISKKNRAGSPSP	7.0	9.0	-	-	4134_19:1067445-1067445 C>A_FSRKKRELMKTPYISKKNRAGSPSP
16:69170647-69170647 G>A	1.0	4134	LUNG	-	-	-	-	CIRH1A	ENST00000567235,p.E70K|uc002ewr.2,p.E70K|ENST00000563299,p.E81K|NM_032830,p.E70K|ENST00000314423,p.E70K|ENST00000563094,p.E70K|ENST00000352319,p.E70K|ENST00000566227,p.E22K|ENST00000562237,p.E84K|uc002ews.4,p.E70K	retained_intron, protein_coding, processed_transcript	uc002ews.4	nonsynonymous SNV	exon3	c.G208A	p.E70K	HESRATEALCWAEGQRLFSAGLNGE	HESRATEALCWAKGQRLFSAGLNGE	9.0	4.0	-	-	4134_16:69170647-69170647 G>A_HESRATEALCWAKGQRLFSAGLNGE
11:47834942-47834942 G>A	0.0	4134	LUNG	-	-	ID=COSM3809364;OCCURENCE=1(breast)	-	NUP160	ENST00000528501,p.S135L|uc001ngm.3,p.S571L|ENST00000530326,p.S457L|ENST00000528071,p.S457L|ENST00000378460,p.S571L|NM_015231,p.S571L|uc021qiu.1,p.S571L	protein_coding, processed_transcript	uc021qiu.1	nonsynonymous SNV	exon14	c.C1712T	p.S571L	LLKKGYLSFLIPSSLVDHLYLLPYE	LLKKGYLSFLIPLSLVDHLYLLPYE	8.0	7.0	-	-	4134_11:47834942-47834942 G>A_LLKKGYLSFLIPLSLVDHLYLLPYE
12:124069299-124069299 C>G	1.0	4134	LUNG	-	-	-	-	TMED2	ENST00000262225,p.S39W|uc001ufg.3,p.S39W|NM_006815,p.S39W|ENST00000438031,p.S39W	retained_intron, protein_coding, processed_transcript	uc001ufg.3	nonsynonymous SNV	exon1	c.C116G	p.S39W	AHAEECFFERVTSGTKMGLIFEVAE	AHAEECFFERVTWGTKMGLIFEVAE	10.0	10.0	-	-	4134_12:124069299-124069299 C>G_AHAEECFFERVTWGTKMGLIFEVAE
16:30680730-30680730 G>C	1.0	4134	LUNG	-	-	-	-	FBRS	ENST00000395073,p.E295Q|uc002dzc.4,p.E295Q|ENST00000287468,p.E383Q|NM_001105079,p.E383Q|ENST00000568722,p.E295Q|uc002dzd.4,p.E383Q|ENST00000356166,p.E903Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dzd.4	nonsynonymous SNV	exon12	c.G1147C	p.E383Q	LARPPRFYEAGEELTGPGAVAAARL	LARPPRFYEAGEQLTGPGAVAAARL	8.0	3.0	-	-	4134_16:30680730-30680730 G>C_LARPPRFYEAGEQLTGPGAVAAARL
14:74062281-74062281 G>C	0.0	4134	LUNG	-	-	-	-	ACOT4	ENST00000326303,p.D397H|NM_152331,p.D397H|uc001xoo.3,p.D397H	protein_coding	uc001xoo.3	nonsynonymous SNV	exon3	c.G1189C	p.D397H	GGEPRAHSKAQEDAWKQILAFFCKH	GGEPRAHSKAQEHAWKQILAFFCKH	6.0	7.0	-	-	4134_14:74062281-74062281 G>C_GGEPRAHSKAQEHAWKQILAFFCKH
1:181021388-181021388 G>A	1.0	4134	LUNG	-	-	-	-	MR1	ENST00000367579,p.V163I|NM_001194999,p.V163I|uc001goq.2,p.V208I|NM_001531,p.V208I|uc001gor.2,p.V163I|ENST00000367580,p.V208I	retained_intron, protein_coding, processed_transcript	uc001gor.2	nonsynonymous SNV	exon5	c.G487A	p.V163I	DTLQRTEPPLVRVNRKETFPGVTAL	DTLQRTEPPLVRINRKETFPGVTAL	6.0	10.0	-	-	4134_1:181021388-181021388 G>A_DTLQRTEPPLVRINRKETFPGVTAL
3:12626149-12626149 G>C	1.0	4134	LUNG	-	-	-	1	RAF1	ENST00000432427,p.S483C|NM_002880,p.S604C|ENST00000442415,p.S624C|uc003bxf.4,p.S604C|uc011auu.2,p.S522C|ENST00000534997,p.S389C|uc011aut.2,p.S389C|ENST00000251849,p.S604C|ENST00000542177,p.S523C	retained_intron, protein_coding, nonsense_mediated_decay	uc011auu.2	nonsynonymous SNV	exon16	c.C1565G	p.S522C	VKEERPLFPQILSSIELLQHSLPKI	VKEERPLFPQILCSIELLQHSLPKI	9.0	8.0	-	-	4134_3:12626149-12626149 G>C_VKEERPLFPQILCSIELLQHSLPKI
2:209113113-209113113 G>A	1.0	4134	LUNG	-	-	ID=COSM28747;OCCURENCE=212(haematopoietic_and_lymphoid_tissue),3(NS),184(bone),106(central_nervous_system),1(prostate),3(large_intestine),33(biliary_tract),3(liver),6(skin),1(breast),11(soft_tissue),1(autonomic_ganglia)	1	IDH1	ENST00000345146,p.R132C|NM_001282386,p.R132C|NM_005896,p.R132C|ENST00000446179,p.R132C|ENST00000415913,p.R132C|uc002vcu.3,p.R132C|ENST00000415282,p.R132C|uc002vcs.3,p.R132C|uc002vct.3,p.R132C|NM_001282387,p.R132C	retained_intron, protein_coding	uc002vcu.3	nonsynonymous SNV	exon4	c.C394T	p.R132C	LVSGWVKPIIIGRHAYGDQYRATDF	LVSGWVKPIIIGCHAYGDQYRATDF	9.0	5.0	-	-	4134_2:209113113-209113113 G>A_LVSGWVKPIIIGCHAYGDQYRATDF
8:87443943-87443943 C>G	1.0	4134	LUNG	-	-	-	-	WWP1	ENST00000517970,p.F524L|ENST00000341922,p.F394L|ENST00000349423,p.F306L|uc010mai.3,p.F300L|uc003ydt.3,p.F524L|NM_007013,p.F524L|ENST00000265428,p.F524L	retained_intron, protein_coding, processed_transcript	uc010mai.3	nonsynonymous SNV	exon10	c.C900G	p.F300L	RYFVDHNTRTTTFKDPRNGKSSVTK	RYFVDHNTRTTTLKDPRNGKSSVTK	8.0	5.0	-	-	4134_8:87443943-87443943 C>G_RYFVDHNTRTTTLKDPRNGKSSVTK
X:135957493-135957493 G>A	0.0	4134	LUNG	-	-	-	-	RBMX	NM_002139,p.P236S|uc011mwg.2,p.P197S|ENST00000562646,p.P236S|uc004faf.2,p.P97S|uc004fae.2,p.P236S|ENST00000565438,p.P108S|ENST00000320676,p.P236S|ENST00000570135,p.P101S|uc004fad.1,p.P236S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011mwg.2	nonsynonymous SNV	exon7	c.C589T	p.P197S	DYPSSRDTRDYAPPPRDYTYRDYGH	DYPSSRDTRDYASPPRDYTYRDYGH	10.0	3.0	unscreened	-	4134_X:135957493-135957493 G>A_DYPSSRDTRDYASPPRDYTYRDYGH
7:154777776-154777776 G>A	0.0	4134	LUNG	-	-	-	-	PAXIP1	uc022aqh.1,p.S58F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022aqh.1	nonsynonymous SNV	exon5	c.C173T	p.S58F	PAEVGKHRDHLPSSDPVLMQAEASV	PAEVGKHRDHLPFSDPVLMQAEASV	6.0	3.0	-	-	4134_7:154777776-154777776 G>A_PAEVGKHRDHLPFSDPVLMQAEASV
16:56855500-56855500 G>C	1.0	4134	LUNG	-	-	-	-	NUP93	uc002ekb.3,p.D94H|NM_001242796,p.D94H|ENST00000569842,p.D217H|ENST00000564887,p.D94H|ENST00000569863,p.D94H|NM_014669,p.D217H|uc002eka.3,p.D217H|ENST00000308159,p.D217H|uc010vhi.2,p.D94H|NM_001242795,p.D94H|ENST00000542526,p.D94H|ENST00000567641,p.D94H	retained_intron, protein_coding, processed_transcript, TEC	uc010vhi.2	nonsynonymous SNV	exon5	c.G280C	p.D94H	LVDLCASVAELDDKSISDMWTMVKQ	LVDLCASVAELDHKSISDMWTMVKQ	9.0	3.0	-	-	4134_16:56855500-56855500 G>C_LVDLCASVAELDHKSISDMWTMVKQ
16:56855500-56855500 G>C	1.0	4134	LUNG	-	-	-	-	NUP93	ENST00000563858,p.D10H	retained_intron, protein_coding, processed_transcript, TEC	ENST00000563858	nonsynonymous SNV	exon3	c.G28C	p.D10H	MDTEGFELDDKSISDMWTMVKQ	MDTEGFELDHKSISDMWTMVKQ	9.0	3.0	-	-	4134_16:56855500-56855500 G>C_MDTEGFELDHKSISDMWTMVKQ
6:56471035-56471043 ATAATCCCC>-	1.0	4134	LUNG	-	-	-	-	RNU6-71P	ENST00000446842,p.2258_2260del|ENST00000439203,p.2258_2260del|ENST00000370769,p.2584_2586del|ENST00000370754,p.2762_2764del|ENST00000361203,p.2584_2586del|ENST00000312431,p.2584_2586del|uc021zax.1,p.2258_2260del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zax.1	nonframeshift deletion	exon26	c.6772_6780del	p.2258_2260del	DHLDSMQSEESYGDYIYDSNDQDDD	DHLDSMQSEESYIYDSNDQDDDDDD	10.0	1.0	unscreened	-	4134_6:56471035-56471043 ATAATCCCC>-_DHLDSMQSEESYIYDSNDQDDDDDD
4:100844301-100844301 G>A	1.0	4134	LUNG	-	-	-	-	DNAJB14	uc003hvl.4,p.T116M|uc010ili.4,p.T49M|NM_001278310,p.T49M|uc003hvk.4,p.T31M|NM_001031723,p.T116M|ENST00000442697,p.T116M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ili.4	nonsynonymous SNV	exon2	c.C146T	p.T49M	NKCKNYYEVLGVTKDAGDEDLKKAY	NKCKNYYEVLGVMKDAGDEDLKKAY	7.0	5.0	-	-	4134_4:100844301-100844301 G>A_NKCKNYYEVLGVMKDAGDEDLKKAY
3:108124246-108124246 C>T	1.0	4134	LUNG	-	-	-	-	MYH15	ENST00000273353,p.E1579K|uc003dxa.1,p.E1579K|NM_014981,p.E1579K	retained_intron, protein_coding, processed_transcript	uc003dxa.1	nonsynonymous SNV	exon34	c.G4735A	p.E1579K	ESKILHFQLELLEAKAELERKLSEK	ESKILHFQLELLKAKAELERKLSEK	5.0	10.0	-	-	4134_3:108124246-108124246 C>T_ESKILHFQLELLKAKAELERKLSEK
6:17805708-17805708 C>G	1.0	4134	LUNG	-	-	-	-	KIF13A	uc003ncf.3,p.E768Q|uc003ncg.4,p.E768Q|uc003nci.4,p.E768Q|NM_001105568,p.E768Q|ENST00000378843,p.E768Q|ENST00000378816,p.E768Q|ENST00000259711,p.E768Q|NM_022113,p.E768Q|ENST00000378826,p.E768Q|ENST00000378814,p.E768Q|NM_001105567,p.E768Q|uc003nch.4,p.E768Q|NM_001105566,p.E768Q	retained_intron, protein_coding, processed_transcript	uc003nci.4	nonsynonymous SNV	exon19	c.G2302C	p.E768Q	RDLYQEWKEKVPEAKRLYGKRGDPF	RDLYQEWKEKVPQAKRLYGKRGDPF	8.0	1.0	unscreened	-	4134_6:17805708-17805708 C>G_RDLYQEWKEKVPQAKRLYGKRGDPF
19:47260044-47260044 T>G	1.0	4134	LUNG	-	-	-	-	FKRP	uc002pfp.2,p.L446R|uc002pfn.2,p.L446R|ENST00000318584,p.L446R|NM_001039885,p.L446R|NM_024301,p.L446R|uc021uwj.1,p.L446R|ENST00000391909,p.L446R	retained_intron, protein_coding, processed_transcript	uc021uwj.1	nonsynonymous SNV	exon1	c.T1337G	p.L446R	DHRQDVEFPEHFLQPLVPLPFAGFV	DHRQDVEFPEHFRQPLVPLPFAGFV	5.0	9.0	-	-	4134_19:47260044-47260044 T>G_DHRQDVEFPEHFRQPLVPLPFAGFV
7:150725677-150725677 C>G	1.0	4134	LUNG	-	-	-	-	ABCB8	ENST00000489192,p.F25L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000489192	nonsynonymous SNV	exon1	c.C75G	p.F25L	GPFPGRLLPPLRFQTFSAVSDTPVA	GPFPGRLLPPLRLQTFSAVSDTPVA	7.0	6.0	-	-	4134_7:150725677-150725677 C>G_GPFPGRLLPPLRLQTFSAVSDTPVA
10:90708611-90708611 T>G	0.0	4134	LUNG	-	-	-	-	ACTA2	uc001kfq.3,p.D26A|ENST00000458208,p.D26A|ENST00000224784,p.D26A|uc010qmz.1,p.D26A|uc001kfp.3,p.D26A|NM_001141945,p.D26A|NM_001613,p.D26A|ENST00000415557,p.D26A|ENST00000458159,p.D26A	protein_coding, processed_transcript	uc010qmz.1	nonsynonymous SNV	exon2	c.A77C	p.D26A	NGSGLCKAGFAGDDAPRAVFPSIVG	NGSGLCKAGFAGADAPRAVFPSIVG	10.0	1.0	unscreened	-	4134_10:90708611-90708611 T>G_NGSGLCKAGFAGADAPRAVFPSIVG
1:247492727-247492727 C>T	0.0	4134	LUNG	-	-	-	-	ZNF496	uc009xgv.3,p.E52K|uc010pyv.1,p.E52K|uc001ico.3,p.E52K|ENST00000366498,p.E52K|NM_032752,p.E52K|ENST00000294753,p.E52K	protein_coding, processed_transcript	uc010pyv.1	nonsynonymous SNV	exon1	c.G154A	p.E52K	SSRRLFRRFRYQEAAGPREALQRLW	SSRRLFRRFRYQKAAGPREALQRLW	6.0	5.0	unscreened	-	4134_1:247492727-247492727 C>T_SSRRLFRRFRYQKAAGPREALQRLW
1:198701633-198701633 C>A	0.0	4134	LUNG	-	-	-	1	PTPRC	NM_080921,p.S536Y|NM_002838,p.S697Y|ENST00000367367,p.S631Y|ENST00000530727,p.S583Y|uc001gur.2,p.S697Y|ENST00000529828,p.S649Y|ENST00000367376,p.S695Y|uc009wzf.2,p.S583Y|ENST00000594404,p.S534Y|uc021pgy.2,p.S649Y|ENST00000352140,p.S647Y|ENST00000442510,p.S697Y|uc010ppg.2,p.S631Y|uc001gut.2,p.S536Y|ENST00000348564,p.S536Y	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc021pgy.2	nonsynonymous SNV	exon19	c.C1946A	p.S649Y	DILPYDYNRVELSEINGDAGSNYIN	DILPYDYNRVELYEINGDAGSNYIN	7.0	8.0	-	-	4134_1:198701633-198701633 C>A_DILPYDYNRVELYEINGDAGSNYIN
7:150725677-150725677 C>G	1.0	4134	LUNG	-	-	-	-	ABCB8	ENST00000488551,p.F25L|ENST00000470645,p.F25L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000488551	nonsynonymous SNV	exon1	c.C75G	p.F25L	GPFPGRLLPPLRFQTFSAVSCGEGV	GPFPGRLLPPLRLQTFSAVSCGEGV	7.0	6.0	-	-	4134_7:150725677-150725677 C>G_GPFPGRLLPPLRLQTFSAVSCGEGV
15:85632647-85632647 G>T	0.0	4134	LUNG	-	-	-	-	PDE8A	ENST00000394553,p.Q238H|NM_002605,p.Q238H|NM_001243137,p.Q166H|ENST00000310298,p.Q238H|uc002blh.3,p.Q238H|uc021stv.1,p.Q166H|ENST00000557957,p.Q166H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021stv.1	nonsynonymous SNV	exon7	c.G498T	p.Q166H	DAIEITSEDRFIQYANPAFETTMGY	DAIEITSEDRFIHYANPAFETTMGY	6.0	6.0	-	-	4134_15:85632647-85632647 G>T_DAIEITSEDRFIHYANPAFETTMGY
10:3197885-3197885 C>G	1.0	4134	LUNG	-	-	-	-	PITRM1	ENST00000224949,p.D507H|uc010qai.2,p.D478H|NM_014889,p.D507H|uc001igr.2,p.D507H|ENST00000380989,p.D507H|uc001igu.1,p.D499H|NM_001242309,p.D475H|uc009xhv.2,p.D507H|ENST00000380994,p.D65H|uc001igt.2,p.D507H|NM_001242307,p.D507H|uc010qah.2,p.D475H|ENST00000451104,p.D475H	protein_coding, processed_transcript	uc010qai.2	nonsynonymous SNV	exon15	c.G1432C	p.D478H	NNQHKLTLSMRPDDKYHEKQAQVEA	NNQHKLTLSMRPHDKYHEKQAQVEA	9.0	3.0	-	-	4134_10:3197885-3197885 C>G_NNQHKLTLSMRPHDKYHEKQAQVEA
19:46914651-46914651 ->C	0.0	4134	LUNG	-	-	-	-	CCDC8	ENST00000307522,p.K473fs|NM_032040,p.K473fs|uc002pep.3,p.K473fs	protein_coding	uc002pep.3	frameshift insertion	exon1	c.1416dupG	p.K473fs	GTTGTAPGARARKQVKTVRFQTPGR	GTTGTAPGARARETGQDSEVPDPWTLFVVLQAPESLLAHSPVANPAQESPQGRRGQEPQGAEGRGQSRS	5.0	8.0	unscreened	-	4134_19:46914651-46914651 ->C_GTTGTAPGARARETGQDSEVPDPWTLFVVLQAPESLLAHSPVANPAQESPQGRRGQEPQGAEGRGQSRS
2:128935463-128935463 A>T	0.0	4134	LUNG	-	-	-	-	UGGT1	uc002tpr.3,p.N1204Y|uc002tps.3,p.N1228Y|ENST00000259253,p.N1228Y|ENST00000375990,p.N1204Y|NM_020120,p.N1228Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tps.3	nonsynonymous SNV	exon33	c.A3682T	p.N1228Y	VNEDLLSDGTSENESGFWDSFKWGF	VNEDLLSDGTSEYESGFWDSFKWGF	9.0	7.0	-	-	4134_2:128935463-128935463 A>T_VNEDLLSDGTSEYESGFWDSFKWGF
1:26872445-26872445 G>T	0.0	4134	LUNG	-	-	-	-	RPS6KA1	NM_001006665,p.W18C|uc001bms.1,p.W18C|ENST00000531382,p.W18C|ENST00000374163,p.W18C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001bms.1	nonsynonymous SNV	exon1	c.G54T	p.W18C	KPPRLRLWALIPWLPRKQRPRISQT	KPPRLRLWALIPCLPRKQRPRISQT	9.0	10.0	-	-	4134_1:26872445-26872445 G>T_KPPRLRLWALIPCLPRKQRPRISQT
7:150725677-150725677 C>G	1.0	4134	LUNG	-	-	-	-	ABCB8	ENST00000482309,p.F25L|ENST00000466514,p.F25L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000482309	nonsynonymous SNV	exon1	c.C75G	p.F25L	GPFPGRLLPPLRFQTFSAVSWPWVR	GPFPGRLLPPLRLQTFSAVSWPWVR	7.0	6.0	-	-	4134_7:150725677-150725677 C>G_GPFPGRLLPPLRLQTFSAVSWPWVR
15:85632647-85632647 G>T	0.0	4134	LUNG	-	-	-	-	PDE8A	ENST00000339708,p.Q238H|NM_173454,p.Q238H|uc002bli.3,p.Q238H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bli.3	nonsynonymous SNV	exon7	c.G714T	p.Q238H	DAIEITSEDRFIQEWQGIYYAKKKN	DAIEITSEDRFIHEWQGIYYAKKKN	6.0	6.0	-	-	4134_15:85632647-85632647 G>T_DAIEITSEDRFIHEWQGIYYAKKKN
17:31087609-31087609 G>C	1.0	4134	LUNG	-	-	-	-	MYO1D	ENST00000579584,p.R358G|uc010wcb.2,p.R358G|ENST00000394649,p.R270G|NM_015194,p.R358G|ENST00000318217,p.R358G|uc002hhp.1,p.R358G|ENST00000583621,p.R358G|uc002hho.1,p.R358G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc010wcb.2	nonsynonymous SNV	exon9	c.C1072G	p.R358G	AIYERLFCWIVTRINDIIEVKNYDT	AIYERLFCWIVTGINDIIEVKNYDT	9.0	3.0	-	-	4134_17:31087609-31087609 G>C_AIYERLFCWIVTGINDIIEVKNYDT
X:138908870-138908870 G>A	0.0	4134	LUNG	-	-	-	-	ATP11C	ENST00000327569,p.S50L|ENST00000370543,p.S50L|NM_001010986,p.S50L|ENST00000361648,p.S50L|ENST00000359686,p.S50L|uc004faz.3,p.S50L|NM_173694,p.S50L|uc004fba.3,p.S50L|ENST00000370557,p.S47L	protein_coding, processed_transcript	uc004fba.3	nonsynonymous SNV	exon2	c.C149T	p.S50L	YIAQRFCDNRIVSSKYTLWNFLPKN	YIAQRFCDNRIVLSKYTLWNFLPKN	7.0	1.0	unscreened	-	4134_X:138908870-138908870 G>A_YIAQRFCDNRIVLSKYTLWNFLPKN
15:34656427-34656427 T>C	1.0	4134	LUNG	-	-	-	-	LPCAT4	uc010bav.1,p.R187G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc010bav.1	nonsynonymous SNV	exon4	c.A559G	p.R187G	PASRRRVVEEVRRRATSGGKWPQVG	PASRRRVVEEVRGRATSGGKWPQVG	10.0	1.0	unscreened	-	4134_15:34656427-34656427 T>C_PASRRRVVEEVRGRATSGGKWPQVG
15:34656427-34656427 T>C	1.0	4134	LUNG	-	-	-	-	LPCAT4	ENST00000314891,p.R187G|NM_153613,p.R187G|uc001zig.3,p.R187G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc001zig.3	nonsynonymous SNV	exon4	c.A559G	p.R187G	PASRRRVVEEVRRRATSGGKWPQVL	PASRRRVVEEVRGRATSGGKWPQVL	10.0	1.0	unscreened	-	4134_15:34656427-34656427 T>C_PASRRRVVEEVRGRATSGGKWPQVL
1:237947415-237947415 C>G	0.0	4134	LUNG	-	-	-	-	RYR2	ENST00000542537,p.R4119G|uc010pya.2,p.R550G|uc001hyl.1,p.R4135G|NM_001035,p.R4135G|ENST00000366574,p.R4135G|ENST00000360064,p.R4141G	protein_coding, processed_transcript	uc010pya.2	nonsynonymous SNV	exon16	c.C1648G	p.R550G	ESVLNYFQPFLGRIEIMGSAKRIER	ESVLNYFQPFLGGIEIMGSAKRIER	5.0	6.0	unscreened	-	4134_1:237947415-237947415 C>G_ESVLNYFQPFLGGIEIMGSAKRIER
6:34850794-34850794 G>C	0.0	4134	LUNG	-	-	-	-	TAF11	uc003ojw.2,p.P79A|uc011dsr.2,p.P79A|NM_001270488,p.P79A|NM_005643,p.P79A|ENST00000361288,p.P79A|ENST00000420584,p.P79A	protein_coding	uc011dsr.2	nonsynonymous SNV	exon2	c.C235G	p.P79A	TTVEREDSSLLNPAAKKLKIDTKEK	TTVEREDSSLLNAAAKKLKIDTKEK	7.0	8.0	-	-	4134_6:34850794-34850794 G>C_TTVEREDSSLLNAAAKKLKIDTKEK
2:231937117-231937117 C>T	1.0	4134	LUNG	-	-	-	-	PSMD1	uc002vrm.2,p.S290L|uc002vrn.2,p.S290L|uc010fxu.2,p.S154L|NM_002807,p.S290L|NM_001191037,p.S290L|ENST00000308696,p.S290L|ENST00000409643,p.S290L|ENST00000373635,p.S290L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fxu.2	nonsynonymous SNV	exon6	c.C461T	p.S154L	VPGSTNTGTVPGSEKDSDSMETEEK	VPGSTNTGTVPGLEKDSDSMETEEK	10.0	1.0	-	-	4134_2:231937117-231937117 C>T_VPGSTNTGTVPGLEKDSDSMETEEK
11:62652946-62652946 G>A	1.0	4134	LUNG	-	-	-	-	SLC3A2	ENST00000377890,p.A438T|ENST00000338663,p.A337T|uc001nwf.3,p.A376T|NM_002394,p.A438T|NM_001012664,p.A376T|ENST00000377892,p.A469T|uc001nwd.3,p.A438T|NM_001013251,p.A337T|uc001nwg.3,p.A337T|ENST00000377889,p.A376T|ENST00000377891,p.A439T|ENST00000535296,p.A407T|NM_001012662,p.A439T|uc001nwc.3,p.A439T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001nwg.3	nonsynonymous SNV	exon7	c.G1009A	p.A337T	TGNRWCSWSLSQARLLTSFLPAQLL	TGNRWCSWSLSQTRLLTSFLPAQLL	10.0	3.0	-	-	4134_11:62652946-62652946 G>A_TGNRWCSWSLSQTRLLTSFLPAQLL
1:214571328-214571355 CAGTTTCCATGATTGTCCTGGGTAAGAC>-	0.0	4134	LUNG	-	-	-	-	PTPN14	ENST00000543945,p.R194fs	protein_coding, processed_transcript	ENST00000543945	frameshift deletion	exon6	c.582_598del	p.R194fs	LTQKVAQEHKAHRTIMETVYTLAFS	LTQKVAQEHKAHSVHLGIFFMGIFV	8.0	1.0	unscreened	-	4134_1:214571328-214571355 CAGTTTCCATGATTGTCCTGGGTAAGAC>-_LTQKVAQEHKAHSVHLGIFFMGIFV
11:120348974-120348974 G>C	1.0	4134	LUNG	-	-	-	1	ARHGEF12	NM_001301084,p.Q1111H|ENST00000397843,p.Q1214H|ENST00000532993,p.Q1111H|uc009zau.1,p.Q1111H|uc001pxl.2,p.Q1214H|NM_001198665,p.Q1195H|ENST00000356641,p.Q1195H|NM_015313,p.Q1214H|uc009zat.3,p.Q1195H	retained_intron, protein_coding	uc009zau.1	nonsynonymous SNV	exon37	c.G3333C	p.Q1111H	KSEVRDLFVAERQFAKEQHTDGTLK	KSEVRDLFVAERHFAKEQHTDGTLK	8.0	4.0	-	-	4134_11:120348974-120348974 G>C_KSEVRDLFVAERHFAKEQHTDGTLK
X:153713982-153713982 C>G	0.0	4134	LUNG	-	-	-	-	UBL4A	ENST00000369660,p.E124Q|ENST00000369653,p.E124Q|uc004flo.3,p.E124Q|NM_014235,p.E124Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004flo.3	nonsynonymous SNV	exon4	c.G370C	p.E124Q	ASRVLEQLQRDYERSLSRLTLDDIE	ASRVLEQLQRDYQRSLSRLTLDDIE	9.0	2.0	unscreened	-	4134_X:153713982-153713982 C>G_ASRVLEQLQRDYQRSLSRLTLDDIE
21:44515836-44515836 C>G	1.0	4134	LUNG	-	-	-	1	U2AF1	uc002zda.1,p.E73Q|NM_001025203,p.E73Q|ENST00000380276,p.E73Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002zda.1	nonsynonymous SNV	exon4	c.G217C	p.E73Q	TADGSHCAVSDVEMQEHYDEFFEEV	TADGSHCAVSDVQMQEHYDEFFEEV	10.0	10.0	-	-	4134_21:44515836-44515836 C>G_TADGSHCAVSDVQMQEHYDEFFEEV
1:41327337-41327337 G>C	0.0	4134	LUNG	-	-	-	-	CITED4	NM_133467,p.R155G|uc001cgj.3,p.R155G|ENST00000372638,p.R155G	protein_coding	uc001cgj.3	nonsynonymous SNV	exon1	c.C463G	p.R155G	TSLELELGLHRVRELPELFLGQSEF	TSLELELGLHRVGELPELFLGQSEF	9.0	9.0	unscreened	-	4134_1:41327337-41327337 G>C_TSLELELGLHRVGELPELFLGQSEF
20:1559029-1559029 C>-	0.0	4134	LUNG	-	-	ID=COSM1724829;OCCURENCE=2(NS)	-	SIRPB1	ENST00000381605,p.D130fs|uc010gai.3,p.D130fs|NM_006065,p.D130fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc010gai.3	frameshift deletion	exon2	c.388delG	p.D130fs	YYCVKFRKGSPDDVEFKSGAGTELS	YYCVKFRKGSPDTWSLSLEQALSCLCAPNPLPPWYRALR	4.0	7.0	unscreened	-	4134_20:1559029-1559029 C>-_YYCVKFRKGSPDTWSLSLEQALSCLCAPNPLPPWYRALR
1:32674721-32674721 G>C	0.0	4134	LUNG	-	-	-	-	DCDC2B	uc001bun.2,p.K9N|NM_001099434,p.K9N|ENST00000409358,p.K9N	retained_intron, protein_coding	uc001bun.2	nonsynonymous SNV	exon1	c.G27C	p.K9N	MAGGSPAAKRVVVYRNGDPFF	MAGGSPAANRVVVYRNGDPFF	1.0	10.0	unscreened	-	4134_1:32674721-32674721 G>C_MAGGSPAANRVVVYRNGDPFF
2:73215426-73215434 GGGTGGCTG>-	0.0	4134	LUNG	-	-	-	-	SFXN5	uc002siq.3,p.193_196del|uc010fet.3,p.193_196del|ENST00000410065,p.193_196del|NM_144579,p.193_196del|uc002sio.3,p.85_88del|ENST00000272433,p.193_196del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fet.3	nonframeshift deletion	exon10	c.578_586del	p.193_196del	LNVLVQKANKFTPATRLLIQRFVPF	LNVLVQKANKFTRLLIQRFVPFPAV	8.0	1.0	unscreened	-	4134_2:73215426-73215434 GGGTGGCTG>-_LNVLVQKANKFTRLLIQRFVPFPAV
14:23564348-23564348 C>T	0.0	4134	LUNG	-	-	-	-	ACIN1	ENST00000555053,p.G50R|ENST00000457657,p.G50R|uc010akg.3,p.G50R|uc001wit.4,p.G50R|NM_014977,p.G50R|NM_001164814,p.G50R|NM_001164815,p.G50R|uc010tnj.2,p.G50R|ENST00000262710,p.G50R	retained_intron, protein_coding, processed_transcript	uc010tnj.2	nonsynonymous SNV	exon1	c.G148A	p.G50R	RWRKLPKMPEAVGTDPSTSRKMAEL	RWRKLPKMPEAVRTDPSTSRKMAEL	10.0	2.0	unscreened	-	4134_14:23564348-23564348 C>T_RWRKLPKMPEAVRTDPSTSRKMAEL
20:1559029-1559029 C>-	0.0	4134	LUNG	-	-	ID=COSM1724829;OCCURENCE=2(NS)	-	SIRPB1	ENST00000564763,p.D130fs	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000564763	frameshift deletion	exon2	c.388delG	p.D130fs	YYCVKFRKGSPDDVEFKSGAGTELS	YYCVKFRKGSPDTWSLSLEQALSCLCALFSRSHTCVPCATNGDVTDCINWGVNHL	4.0	7.0	unscreened	-	4134_20:1559029-1559029 C>-_YYCVKFRKGSPDTWSLSLEQALSCLCALFSRSHTCVPCATNGDVTDCINWGVNHL
20:1559029-1559029 C>-	0.0	4134	LUNG	-	-	ID=COSM1724829;OCCURENCE=2(NS)	-	SIRPB1	ENST00000567028,p.D129fs	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000567028	frameshift deletion	exon2	c.385delG	p.D129fs	YYCVKFRKGSPDDVEFKSGAGTELS	YYCVKFRKGSPDTWSLSLEQALSCLCAESHMCSMCNKRRCHRLYQLGSQSS	4.0	7.0	unscreened	-	4134_20:1559029-1559029 C>-_YYCVKFRKGSPDTWSLSLEQALSCLCAESHMCSMCNKRRCHRLYQLGSQSS
20:1559029-1559029 C>-	0.0	4134	LUNG	-	-	ID=COSM1724829;OCCURENCE=2(NS)	-	SIRPB1	ENST00000563840,p.D129fs|ENST00000262929,p.D129fs|NM_001083910,p.D130fs|uc002wfk.4,p.D130fs|ENST00000381603,p.D130fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc002wfk.4	frameshift deletion	exon2	c.388delG	p.D130fs	YYCVKFRKGSPDDVEFKSGAGTELS	YYCVKFRKGSPDTWSLSLEQALSCLCAKQRWLLLLHSS	4.0	7.0	unscreened	-	4134_20:1559029-1559029 C>-_YYCVKFRKGSPDTWSLSLEQALSCLCAKQRWLLLLHSS
3:42251399-42251399 G>C	1.0	4134	LUNG	-	-	-	-	TRAK1	uc011azj.3,p.E555Q|NM_001265609,p.E555Q|uc003cla.4,p.E571Q|ENST00000396175,p.E571Q|ENST00000341421,p.E571Q|ENST00000327628,p.E629Q|NM_014965,p.E571Q|NM_001042646,p.E629Q|NM_001265608,p.E629Q|uc003cky.4,p.E629Q|uc011azh.3,p.E629Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc011azj.3	nonsynonymous SNV	exon13	c.G1663C	p.E555Q	VDLDEVYCLNDFEEDDTGDHISLPR	VDLDEVYCLNDFQEDDTGDHISLPR	7.0	9.0	-	-	4134_3:42251399-42251399 G>C_VDLDEVYCLNDFQEDDTGDHISLPR
2:216211662-216211662 G>A	1.0	4134	LUNG	-	-	-	1	ATIC	uc010zjo.2,p.E442K|ENST00000236959,p.E501K|uc002vex.4,p.E501K|uc002vey.4,p.E500K|ENST00000540518,p.E442K|NM_004044,p.E501K|ENST00000435675,p.E500K	retained_intron, protein_coding, nonsense_mediated_decay	uc010zjo.2	nonsynonymous SNV	exon14	c.G1324A	p.E442K	NAIDQYVTGTIGEDEDLIKWKALFE	NAIDQYVTGTIGKDEDLIKWKALFE	10.0	6.0	-	-	4134_2:216211662-216211662 G>A_NAIDQYVTGTIGKDEDLIKWKALFE
2:73215426-73215434 GGGTGGCTG>-	0.0	4134	LUNG	-	-	-	-	SFXN5	uc010yrc.2,p.50_52del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yrc.2	nonframeshift deletion	exon10	c.148_156del	p.50_52del	LMSWFRKPTSSPQPPAFSSRASANI	LMSWFRKPTSSPAFSSRASANICNV	8.0	1.0	unscreened	-	4134_2:73215426-73215434 GGGTGGCTG>-_LMSWFRKPTSSPAFSSRASANICNV
5:146017939-146017939 G>A	0.0	4134	LUNG	0.0005	-	-	-	PPP2R2B	uc003lof.5,p.T222M|ENST00000394409,p.T280M|uc003loh.5,p.T288M|ENST00000394411,p.T222M|NM_181674,p.T288M|NM_181678,p.T211M|uc003lok.5,p.T211M|uc003log.5,p.T328M|NM_001271948,p.T211M|NM_001271900,p.T280M|uc003loi.5,p.T225M|ENST00000453001,p.T222M|uc011dbv.3,p.T280M|ENST00000508545,p.T211M|ENST00000394413,p.T222M|uc010jgm.4,p.T211M|NM_181675,p.T328M|ENST00000394414,p.T288M|ENST00000336640,p.T225M|NM_181676,p.T225M|ENST00000504198,p.T228M|uc011dbu.3,p.T228M|uc003loe.4,p.T222M|NM_001271899,p.T228M|NM_181677,p.T202M|ENST00000394410,p.T211M|uc003loj.5,p.T202M|ENST00000356826,p.T222M	protein_coding, processed_transcript, nonsense_mediated_decay	uc011dbv.3	nonsynonymous SNV	exon8	c.C839T	p.T280M	IVDIKPANMEELTEVITAAEFHPHH	IVDIKPANMEELMEVITAAEFHPHH	5.0	9.0	unscreened	-	4134_5:146017939-146017939 G>A_IVDIKPANMEELMEVITAAEFHPHH
1:112106519-112106519 G>A	0.0	4134	LUNG	-	-	-	-	ADORA3	uc001ebg.4,p.S19F|ENST00000369717,p.S19F|ENST00000443498,p.S13F|NM_001081976,p.S19F	protein_coding, processed_transcript	uc001ebg.4	nonsynonymous SNV	exon1	c.C56T	p.S19F	GPIEQKEARWESSWEEQPDWTLGCL	GPIEQKEARWESFWEEQPDWTLGCL	8.0	9.0	unscreened	-	4134_1:112106519-112106519 G>A_GPIEQKEARWESFWEEQPDWTLGCL
10:90708609-90708609 C>T	0.0	4134	LUNG	-	-	-	-	ACTA2	uc001kfq.3,p.D27N|uc010qmz.1,p.D27N|ENST00000458208,p.D27N|NM_001141945,p.D27N|ENST00000415557,p.D27N|ENST00000458159,p.D27N|uc001kfp.3,p.D27N|ENST00000224784,p.D27N|NM_001613,p.D27N	protein_coding, processed_transcript	uc010qmz.1	nonsynonymous SNV	exon2	c.G79A	p.D27N	GSGLCKAGFAGDDAPRAVFPSIVGR	GSGLCKAGFAGDNAPRAVFPSIVGR	10.0	1.0	unscreened	-	4134_10:90708609-90708609 C>T_GSGLCKAGFAGDNAPRAVFPSIVGR
2:207833925-207833925 G>T	0.0	4134	LUNG	-	-	ID=COSM1202179;OCCURENCE=1(large_intestine)	-	CPO	ENST00000272852,p.W297L|NM_173077,p.W297L|uc002vby.2,p.W297L	protein_coding	uc002vby.2	nonsynonymous SNV	exon9	c.G890T	p.W297L	DILYASSGSSRDWARDIGIPFSYTF	DILYASSGSSRDLARDIGIPFSYTF	1.0	1.0	unscreened	-	4134_2:207833925-207833925 G>T_DILYASSGSSRDLARDIGIPFSYTF
4:88732916-88732916 G>A	0.0	4134	LUNG	-	-	-	-	IBSP	ENST00000226284,p.E270K|NM_004967,p.E270K|uc003hqx.4,p.E270K	protein_coding	uc003hqx.4	nonsynonymous SNV	exon7	c.G808A	p.E270K	EYEGEYEYTGANEYDNGYEIYESEN	EYEGEYEYTGANKYDNGYEIYESEN	8.0	2.0	unscreened	-	4134_4:88732916-88732916 G>A_EYEGEYEYTGANKYDNGYEIYESEN
1:200868691-200868691 T>A	1.0	4134	LUNG	-	-	-	-	C1orf106	uc010ppm.2,p.L49Q|ENST00000367342,p.L134Q|ENST00000413687,p.L49Q|NM_018265,p.L148Q|uc001gvo.4,p.L148Q|ENST00000451872,p.L49Q|NM_001142569,p.L49Q	protein_coding, processed_transcript	uc010ppm.2	nonsynonymous SNV	exon3	c.T146A	p.L49Q	QQRALEARLEACLEELRRLCLREAE	QQRALEARLEACQEELRRLCLREAE	10.0	4.0	-	-	4134_1:200868691-200868691 T>A_QQRALEARLEACQEELRRLCLREAE
17:8092597-8092597 C>G	1.0	4134	LUNG	-	-	-	-	C17orf59	NM_017622,p.E288Q|ENST00000389017,p.E288Q|uc010vut.2,p.E288Q	protein_coding	uc010vut.2	nonsynonymous SNV	exon1	c.G862C	p.E288Q	DRLLRGLGGAVQELTALSVGCIQTY	DRLLRGLGGAVQQLTALSVGCIQTY	7.0	10.0	-	-	4134_17:8092597-8092597 C>G_DRLLRGLGGAVQQLTALSVGCIQTY
3:167277994-167277994 G>A	0.0	4134	LUNG	-	-	-	-	WDR49	ENST00000466760,p.S63F	protein_coding, nonsense_mediated_decay	ENST00000466760	nonsynonymous SNV	exon3	c.C188T	p.S63F	QKAFEVISSDTGSTVSFWMIDTGQK	QKAFEVISSDTGFTVSFWMIDTGQK	1.0	9.0	unscreened	-	4134_3:167277994-167277994 G>A_QKAFEVISSDTGFTVSFWMIDTGQK
8:113303816-113303816 C>T	0.0	4134	LUNG	-	-	-	2	CSMD3	ENST00000343508,p.G2926E|NM_052900,p.G2797E|uc011lhx.2,p.G2797E|NM_198124,p.G2926E|ENST00000297405,p.G2966E|ENST00000339701,p.G2236E|ENST00000352409,p.G2896E|ENST00000455883,p.G2797E|uc003ynt.3,p.G2926E|uc003ynu.3,p.G2966E|uc003yns.3,p.G2168E|NM_198123,p.G2966E	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon54	c.G8390A	p.G2797E	TYGTVVFYDCNPGYFLFGSSVLICQ	TYGTVVFYDCNPEYFLFGSSVLICQ	1.0	7.0	unscreened	-	4134_8:113303816-113303816 C>T_TYGTVVFYDCNPEYFLFGSSVLICQ
22:22318303-22318303 G>T	0.0	4134	LUNG	-	-	-	-	TOP3B	ENST00000436282,p.A131D	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000436282	nonsynonymous SNV	exon4	c.C392A	p.A131D	HPPITPMKSATEAELGFAVCPAQRL	HPPITPMKSATEDELGFAVCPAQRL	7.0	7.0	unscreened	-	4134_22:22318303-22318303 G>T_HPPITPMKSATEDELGFAVCPAQRL
6:25770391-25770391 G>C	0.0	4134	LUNG	-	-	-	-	SLC17A4	ENST00000377905,p.A132P|NM_005495,p.A132P|uc003nfg.3,p.A69P|uc003nfe.3,p.A132P|NM_001286121,p.A78P	protein_coding	uc003nfg.3	nonsynonymous SNV	exon4	c.G205C	p.A69P	GSFLAPIPSGYVAGIFGAKYVVGAG	GSFLAPIPSGYVPGIFGAKYVVGAG	1.0	2.0	unscreened	-	4134_6:25770391-25770391 G>C_GSFLAPIPSGYVPGIFGAKYVVGAG
1:197032085-197032085 G>A	0.0	4134	LUNG	-	-	-	-	F13B	uc001gtt.1,p.S56L|ENST00000367412,p.S56L|NM_001994,p.S56L	protein_coding, processed_transcript	uc001gtt.1	nonsynonymous SNV	exon2	c.C167T	p.S56L	SFYFPMSIDKKLSFFCLAGYTTESG	SFYFPMSIDKKLLFFCLAGYTTESG	1.0	10.0	unscreened	-	4134_1:197032085-197032085 G>A_SFYFPMSIDKKLLFFCLAGYTTESG
3:192516720-192516720 G>C	0.0	4134	LUNG	-	-	ID=COSM350832;OCCURENCE=5(lung),1(urinary_tract),2(breast)	2	MB21D2	ENST00000392452,p.Q311E|NM_178496,p.Q311E|uc011bsp.2,p.Q311E	protein_coding	uc011bsp.2	nonsynonymous SNV	exon2	c.C931G	p.Q311E	KKCISSSLMQAYQACKAIIIKLLSR	KKCISSSLMQAYEACKAIIIKLLSR	5.0	9.0	-	-	4134_3:192516720-192516720 G>C_KKCISSSLMQAYEACKAIIIKLLSR
1:108735196-108735196 C>A	0.0	4134	LUNG	-	-	-	-	SLC25A24	uc001dvm.4,p.K16N|ENST00000370041,p.K16N|NM_213651,p.K16N	protein_coding, nonsense_mediated_decay	uc001dvm.4	nonsynonymous SNV	exon1	c.G48T	p.K16N	LYGDLFWYLDYNKDGTLDIFELQEG	LYGDLFWYLDYNNDGTLDIFELQEG	8.0	9.0	-	-	4134_1:108735196-108735196 C>A_LYGDLFWYLDYNNDGTLDIFELQEG
16:11990535-11990535 C>G	1.0	4134	LUNG	-	-	-	-	GSPT1	uc002dbt.3,p.E182Q|ENST00000420576,p.E44Q|NM_002094,p.E182Q|ENST00000563468,p.E44Q|uc010bux.3,p.E44Q|uc002dbu.3,p.E181Q|NM_001130007,p.E44Q|ENST00000568849,p.E75Q|ENST00000439887,p.E181Q|ENST00000562169,p.E74Q|ENST00000434724,p.E182Q|NM_001130006,p.E181Q	retained_intron, protein_coding, processed_transcript	uc010bux.3	nonsynonymous SNV	exon4	c.G130C	p.E44Q	PGGGSLGDGRPPEESAHEMMEEEEE	PGGGSLGDGRPPQESAHEMMEEEEE	10.0	7.0	-	-	4134_16:11990535-11990535 C>G_PGGGSLGDGRPPQESAHEMMEEEEE
6:5000073-5000073 G>C	0.0	4134	LUNG	-	-	-	-	RPP40	NM_001286133,p.Q135E	retained_intron, protein_coding, nonsense_mediated_decay	NM_001286133	nonsynonymous SNV	exon4	c.C403G	p.Q135E	TYEETGLQGHPSQFSGRKIMKFSSE	TYEETGLQGHPSEFSGRKIMKFSSE	7.0	5.0	-	-	4134_6:5000073-5000073 G>C_TYEETGLQGHPSEFSGRKIMKFSSE
11:102584577-102584577 T>C	0.0	4134	LUNG	-	-	-	-	MMP8	NM_002424,p.Q401R|uc010ruu.1,p.Q378R|uc001phe.2,p.Q401R|ENST00000236826,p.Q401R	protein_coding, nonsense_mediated_decay	uc010ruu.1	nonsynonymous SNV	exon10	c.A1133G	p.Q378R	FFVNDQFWRYDNQRQFMEPGYPKSI	FFVNDQFWRYDNRRQFMEPGYPKSI	1.0	8.0	unscreened	-	4134_11:102584577-102584577 T>C_FFVNDQFWRYDNRRQFMEPGYPKSI
21:44182296-44182296 G>A	0.0	4134	LUNG	-	-	-	-	PDE9A	ENST00000398236,p.E311K|uc010gpf.1,p.E190K|uc002zbw.3,p.E180K|NM_001001567,p.E337K|uc002zbt.3,p.E269K|NM_001001582,p.E356K|uc002zbq.3,p.E295K|NM_001001583,p.E371K|uc002zbx.3,p.E337K|uc002zby.3,p.E180K|uc002zbs.3,p.E190K|uc002zbn.3,p.E270K|NM_001001574,p.E311K|uc002zcb.3,p.E371K|NM_001001575,p.E237K|ENST00000335440,p.E295K|uc002zcc.3,p.E296K|uc002zbo.3,p.E344K|NM_001001584,p.E190K|uc002zcf.3,p.E190K|NM_001001577,p.E263K|ENST00000398229,p.E263K|ENST00000335512,p.E337K|NM_001001579,p.E190K|NM_001001580,p.E180K|uc002zbv.3,p.E237K|ENST00000380328,p.E344K|NM_001001576,p.E180K|NM_001001569,p.E269K|NM_001001570,p.E344K|uc002zbm.3,p.E397K|ENST00000398225,p.E356K|NM_001001585,p.E190K|NM_001001573,p.E190K|NM_001001571,p.E296K|uc002zbr.3,p.E190K|ENST00000398232,p.E330K|uc002zbz.3,p.E289K|NM_001001581,p.E330K|NM_001001578,p.E295K|ENST00000328862,p.E371K|uc002zce.3,p.E330K|ENST00000398224,p.E270K|ENST00000398227,p.E237K|ENST00000398234,p.E296K|uc002zbp.3,p.E190K|NM_001001572,p.E190K|NM_001001568,p.E270K|ENST00000291539,p.E397K|ENST00000539837,p.E269K|NM_002606,p.E397K|uc002zca.3,p.E356K|uc002zbu.3,p.E263K|ENST00000349112,p.E269K|uc002zcd.3,p.E311K|uc002zcg.3,p.E190K	retained_intron, protein_coding, processed_transcript	uc010gpf.1	nonsynonymous SNV	exon8	c.G568A	p.E190K	HCAVAFQILAEPECNIFSNIPPDGF	HCAVAFQILAEPKCNIFSNIPPDGF	6.0	5.0	unscreened	-	4134_21:44182296-44182296 G>A_HCAVAFQILAEPKCNIFSNIPPDGF
4:103610784-103610784 T>A	0.0	4134	LUNG	-	-	-	-	MANBA	uc003hwg.3,p.M303L|ENST00000226578,p.M303L|ENST00000505239,p.M246L|NM_005908,p.M303L|uc011ces.2,p.M246L	retained_intron, protein_coding, nonsense_mediated_decay	uc011ces.2	nonsynonymous SNV	exon6	c.A736T	p.M246L	WPHGHGNQTGYNMTVLFELDGGLNI	WPHGHGNQTGYNLTVLFELDGGLNI	7.0	1.0	unscreened	-	4134_4:103610784-103610784 T>A_WPHGHGNQTGYNLTVLFELDGGLNI
17:65162637-65162637 G>C	0.0	4134	LUNG	-	-	-	-	HELZ	uc010wqk.2,p.P618A|ENST00000358691,p.P618A|NM_014877,p.P618A|ENST00000580168,p.P618A|uc002jfx.4,p.P618A|ENST00000579953,p.P618A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay	uc010wqk.2	nonsynonymous SNV	exon15	c.C1852G	p.P618A	ALDRIKDNGVLFPDISMTPTIPWSP	ALDRIKDNGVLFADISMTPTIPWSP	6.0	1.0	unscreened	-	4134_17:65162637-65162637 G>C_ALDRIKDNGVLFADISMTPTIPWSP
4:3318346-3318346 T>-	0.0	4134	LUNG	-	-	-	-	RGS12	ENST00000382788,p.I150fs|NM_198229,p.I150fs|ENST00000543385,p.I150fs|uc003ggv.3,p.I150fs|uc003ggw.3,p.I150fs|ENST00000514268,p.I150fs|uc003ggx.1,p.I150fs|ENST00000344733,p.I150fs|uc003ggu.2,p.I150fs|NM_002926,p.I150fs|ENST00000336727,p.I150fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ggx.1	frameshift deletion	exon1	c.449delT	p.I150fs	VEEMQSGGIFNMIFENPSLCASNSE	VEEMQSGGIFNMILKTRAFVRAIQSP	7.0	7.0	unscreened	-	4134_4:3318346-3318346 T>-_VEEMQSGGIFNMILKTRAFVRAIQSP
21:44515836-44515836 C>G	1.0	4134	LUNG	-	-	-	1	U2AF1	uc002zdb.1,p.E73Q|uc010gpi.1,p.E73Q|NM_006758,p.E73Q|ENST00000291552,p.E73Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010gpi.1	nonsynonymous SNV	exon4	c.G217C	p.E73Q	SADGLRCAVSDVEMQEHYDEFFEEV	SADGLRCAVSDVQMQEHYDEFFEEV	10.0	10.0	-	-	4134_21:44515836-44515836 C>G_SADGLRCAVSDVQMQEHYDEFFEEV
15:77345175-77345175 C>T	1.0	4134	LUNG	-	-	-	-	TSPAN3	ENST00000424443,p.E113K|uc010ump.2,p.E113K|uc002bcj.3,p.E177K|NM_001168412,p.E113K|ENST00000346495,p.E152K|uc002bck.3,p.E152K|NM_005724,p.E177K|ENST00000559494,p.E88K|NM_198902,p.E152K|ENST00000267970,p.E177K	retained_intron, protein_coding, processed_transcript	uc010ump.2	nonsynonymous SNV	exon4	c.G337A	p.E113K	TKNQSVPLSCCRETASNCNGSLAHP	TKNQSVPLSCCRKTASNCNGSLAHP	10.0	3.0	-	-	4134_15:77345175-77345175 C>T_TKNQSVPLSCCRKTASNCNGSLAHP
2:74129496-74129496 G>T	0.0	4134	LUNG	-	-	-	-	ACTG2	uc010fex.1,p.V46L|ENST00000345517,p.V46L|ENST00000438902,p.V46L|ENST00000409624,p.V46L|ENST00000442912,p.V46L|uc002sjw.3,p.V46L|NM_001615,p.V46L|uc010fey.3,p.V46L|ENST00000409918,p.V46L	retained_intron, protein_coding, nonsense_mediated_decay	uc010fey.3	nonsynonymous SNV	exon4	c.G136T	p.V46L	SIVGRPRHQGVMVGMGQKDSYVGDE	SIVGRPRHQGVMLGMGQKDSYVGDE	6.0	3.0	-	-	4134_2:74129496-74129496 G>T_SIVGRPRHQGVMLGMGQKDSYVGDE
1:92528698-92528698 C>A	0.0	4134	LUNG	-	-	-	-	EPHX4	uc001don.2,p.A315D|ENST00000370383,p.A315D|NM_173567,p.A315D	protein_coding, processed_transcript	uc001don.2	nonsynonymous SNV	exon7	c.C944A	p.A315D	WGENDAFMEVEMAEVTKIYVKNYFR	WGENDAFMEVEMDEVTKIYVKNYFR	6.0	9.0	unscreened	-	4134_1:92528698-92528698 C>A_WGENDAFMEVEMDEVTKIYVKNYFR
1:31656665-31656665 G>T	0.0	4134	LUNG	-	-	-	-	NKAIN1	ENST00000530145,p.A113E|ENST00000398657,p.A86E|uc010ogd.2,p.A157E|NM_024522,p.A157E|ENST00000263693,p.A113E|ENST00000373736,p.A157E|uc010ogc.2,p.A86E	retained_intron, protein_coding, processed_transcript	uc010ogd.2	nonsynonymous SNV	exon4	c.C470A	p.A157E	IEALSSALQIFLALFGFVFACYVSK	IEALSSALQIFLELFGFVFACYVSK	1.0	9.0	unscreened	-	4134_1:31656665-31656665 G>T_IEALSSALQIFLELFGFVFACYVSK
X:153539496-153539496 G>C	0.0	4134	LUNG	-	-	-	-	TKTL1	ENST00000439635,p.W115C	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000439635	nonsynonymous SNV	exon4	c.G345C	p.W115C	ACGTLMWWTAGTWRHCARYSGRLLR	ACGTLMWWTAGTCRHCARYSGRLLR	1.0	1.0	unscreened	-	4134_X:153539496-153539496 G>C_ACGTLMWWTAGTCRHCARYSGRLLR
X:3228277-3228277 T>G	0.0	4134	LUNG	-	-	-	-	MXRA5	NM_015419,p.K2656T|ENST00000217939,p.K2656T|uc004crg.4,p.K2656T	protein_coding	uc004crg.4	nonsynonymous SNV	exon7	c.A7967C	p.K2656T	HNLVSIINGETLKLPCTPPGAGQGR	HNLVSIINGETLTLPCTPPGAGQGR	7.0	5.0	-	-	4134_X:3228277-3228277 T>G_HNLVSIINGETLTLPCTPPGAGQGR
22:46652994-46652994 G>A	0.0	4134	LUNG	0.0005	-	-	-	PKDREJ	uc003bhh.3,p.R2076C|NM_006071,p.R2076C|ENST00000253255,p.R2076C	protein_coding	uc003bhh.3	nonsynonymous SNV	exon1	c.C6226T	p.R2076C	KTLRYSRFFYDVRLAQRAIQAALPG	KTLRYSRFFYDVCLAQRAIQAALPG	1.0	9.0	unscreened	-	4134_22:46652994-46652994 G>A_KTLRYSRFFYDVCLAQRAIQAALPG
11:55587206-55587206 C>A	0.0	4134	LUNG	-	-	-	-	OR5D18	uc010rin.2,p.A34D|NM_001001952,p.A34D|ENST00000333976,p.A34D	protein_coding	uc010rin.2	nonsynonymous SNV	exon1	c.C101A	p.A34D	PELQVPLFLVFLAIYNVTVLGNIGL	PELQVPLFLVFLDIYNVTVLGNIGL	1.0	7.0	unscreened	-	4134_11:55587206-55587206 C>A_PELQVPLFLVFLDIYNVTVLGNIGL
17:28706290-28706290 C>T	0.0	4134	LUNG	-	-	-	-	CPD	ENST00000225719,p.R98C|uc002hfb.2,p.R98C|NM_001304,p.R98C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002hfb.2	nonsynonymous SNV	exon1	c.C292T	p.R98C	GRSVEGRPLWVLRLTAGLGSLIPEG	GRSVEGRPLWVLCLTAGLGSLIPEG	8.0	7.0	-	-	4134_17:28706290-28706290 C>T_GRSVEGRPLWVLCLTAGLGSLIPEG
7:2403297-2403297 G>C	1.0	4134	LUNG	-	-	-	-	EIF3B	ENST00000431643,p.E29Q|ENST00000360876,p.E301Q|uc003slz.1,p.E262Q|uc003sma.3,p.E29Q|uc003sly.3,p.E301Q|ENST00000397011,p.E301Q|uc003slx.3,p.E301Q|NM_003751,p.E301Q|ENST00000413917,p.E262Q|NM_001037283,p.E301Q	retained_intron, protein_coding	uc003sma.3	nonsynonymous SNV	exon4	c.G85C	p.E29Q	DLGNLRYWLEEAECRDQYSVIFESG	DLGNLRYWLEEAQCRDQYSVIFESG	10.0	1.0	-	-	4134_7:2403297-2403297 G>C_DLGNLRYWLEEAQCRDQYSVIFESG
4:15688719-15688719 A>T	1.0	4134	LUNG	-	-	-	-	FAM200B	uc021xmj.1,p.D40V|ENST00000422728,p.D40V|NM_001145191,p.D40V|uc003gof.4,p.D40V	protein_coding, processed_transcript	uc021xmj.1	nonsynonymous SNV	exon1	c.A119T	p.D40V	GIVNSDNIEKNTDSNLQTSTSFEPH	GIVNSDNIEKNTVSNLQTSTSFEPH	9.0	8.0	-	-	4134_4:15688719-15688719 A>T_GIVNSDNIEKNTVSNLQTSTSFEPH
3:167277994-167277994 G>A	0.0	4134	LUNG	-	-	-	-	WDR49	NM_178824,p.S170F|uc003fev.1,p.S170F|uc011bpd.1,p.S223F|ENST00000453925,p.S223F|ENST00000308378,p.S170F	protein_coding, nonsense_mediated_decay	uc011bpd.1	nonsynonymous SNV	exon5	c.C668T	p.S223F	SILKQVISSDTGSTVSFWMIDTGQK	SILKQVISSDTGFTVSFWMIDTGQK	1.0	9.0	unscreened	-	4134_3:167277994-167277994 G>A_SILKQVISSDTGFTVSFWMIDTGQK
2:179315735-179315736 GC>-	0.0	4134	LUNG	0.15	rs141354030	ID=COSM1010052;OCCURENCE=2(breast),13(large_intestine),1(endometrium)	-	PRKRA	ENST00000325748,p.A8fs|uc002umf.3,p.A8fs|ENST00000424699,p.A8fs|NM_003690,p.A8fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002umf.3	frameshift deletion	exon1	c.22_23del	p.A8fs	MSQSRHRAEAPPLEREDSGT	MSQSRHRRGPAAGARGQWDLQFGEDDNS	9.0	3.0	unscreened	-	4134_2:179315735-179315736 GC>-_MSQSRHRRGPAAGARGQWDLQFGEDDNS
4:94138016-94138016 C>G	0.0	4134	LUNG	-	-	-	-	GRID2	uc010ikx.3,p.S306C|ENST00000282020,p.S306C|ENST00000510992,p.S211C|NM_001510,p.S306C|uc011cdt.2,p.S306C|NM_001286838,p.S211C|uc011cdu.2,p.S211C	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cdu.2	nonsynonymous SNV	exon5	c.C632G	p.S211C	ISQRCFRGNHRISSTLCDPKDPFAQ	ISQRCFRGNHRICSTLCDPKDPFAQ	1.0	4.0	unscreened	-	4134_4:94138016-94138016 C>G_ISQRCFRGNHRICSTLCDPKDPFAQ
3:164776816-164776816 C>T	0.0	4134	LUNG	-	-	-	-	SI	NM_001041,p.E445K|ENST00000264382,p.E445K|uc003fei.3,p.E445K	retained_intron, protein_coding, nonsense_mediated_decay	uc003fei.3	nonsynonymous SNV	exon12	c.G1333A	p.E445K	GRRANGTTYATYERGNTQHVWINES	GRRANGTTYATYKRGNTQHVWINES	1.0	9.0	unscreened	-	4134_3:164776816-164776816 C>T_GRRANGTTYATYKRGNTQHVWINES
12:22089509-22089509 G>A	0.0	4134	LUNG	-	-	-	-	ABCC9	uc001rfi.1,p.H34Y|ENST00000345162,p.H34Y|NM_020297,p.H34Y|ENST00000261200,p.H34Y|uc001rfh.3,p.H34Y|uc001rfk.3,p.H34Y|ENST00000538350,p.H34Y|ENST00000261201,p.H34Y|ENST00000326684,p.H34Y|uc001rfl.1,p.H34Y|NM_005691,p.H34Y	protein_coding	uc001rfl.1	nonsynonymous SNV	exon3	c.C100T	p.H34Y	NSCFVDALNLVPHVFLLFITFPILF	NSCFVDALNLVPYVFLLFITFPILF	3.0	10.0	unscreened	-	4134_12:22089509-22089509 G>A_NSCFVDALNLVPYVFLLFITFPILF
13:35785297-35785297 G>A	0.0	4134	LUNG	-	-	-	2	NBEA	NM_015678,p.D1877N|uc021rid.1,p.D1877N|ENST00000400445,p.D1877N|ENST00000379939,p.D1874N|uc010abi.3,p.D533N|ENST00000310336,p.D1877N|ENST00000540320,p.D1877N	protein_coding, processed_transcript	uc021rid.1	nonsynonymous SNV	exon33	c.G5629A	p.D1877N	LPAVQTVAPMPEDSAENMSITAKLE	LPAVQTVAPMPENSAENMSITAKLE	1.0	9.0	-	-	4134_13:35785297-35785297 G>A_LPAVQTVAPMPENSAENMSITAKLE
6:5000073-5000073 G>C	0.0	4134	LUNG	-	-	-	-	RPP40	uc003mwm.3,p.Q112E|ENST00000380051,p.Q135E|ENST00000319533,p.Q112E|uc003mwl.3,p.Q135E|NM_001286132,p.Q112E|NM_006638,p.Q135E|ENST00000464646,p.Q75E	retained_intron, protein_coding, nonsense_mediated_decay	uc003mwm.3	nonsynonymous SNV	exon3	c.C334G	p.Q112E	TYEETGLQGHPSQFSGRKIMKFIVS	TYEETGLQGHPSEFSGRKIMKFIVS	7.0	5.0	-	-	4134_6:5000073-5000073 G>C_TYEETGLQGHPSEFSGRKIMKFIVS
X:14934363-14934363 G>C	0.0	4134	LUNG	-	-	-	-	MOSPD2	uc004cwj.3,p.E348Q|ENST00000482354,p.E411Q|NM_152581,p.E411Q|NM_001177475,p.E348Q|uc004cwi.3,p.E411Q|ENST00000380492,p.E411Q	protein_coding, processed_transcript	uc004cwj.3	nonsynonymous SNV	exon12	c.G1042C	p.E348Q	VSAQDRFLIMAAEMEQSSGTGPAEL	VSAQDRFLIMAAQMEQSSGTGPAEL	7.0	2.0	unscreened	-	4134_X:14934363-14934363 G>C_VSAQDRFLIMAAQMEQSSGTGPAEL
11:22281072-22281072 T>C	0.0	4134	LUNG	-	-	-	-	ANO5	ENST00000324559,p.L472P|uc001mqi.2,p.L472P|NM_213599,p.L472P|NM_001142649,p.L471P|uc001mqj.2,p.L471P	protein_coding, processed_transcript	uc001mqj.2	nonsynonymous SNV	exon15	c.T1412C	p.L471P	FLSGATVTLWMSLVVTSMVAVIVYR	FLSGATVTLWMSPVVTSMVAVIVYR	1.0	3.0	unscreened	-	4134_11:22281072-22281072 T>C_FLSGATVTLWMSPVVTSMVAVIVYR
2:88874195-88874195 T>C	0.0	4134	LUNG	-	-	-	-	EIF2AK3	ENST00000303236,p.R936G|uc002stc.4,p.R936G|ENST00000415570,p.R815G|NM_004836,p.R936G|ENST00000419748,p.R785G	retained_intron, protein_coding, processed_transcript	uc002stc.4	nonsynonymous SNV	exon13	c.A2806G	p.R936G	AVEFLHSKGLMHRDLKPSNIFFTMD	AVEFLHSKGLMHGDLKPSNIFFTMD	9.0	2.0	unscreened	-	4134_2:88874195-88874195 T>C_AVEFLHSKGLMHGDLKPSNIFFTMD
1:228444477-228444477 G>T	0.0	4134	LUNG	-	-	-	-	OBSCN	ENST00000359599,p.G43W|ENST00000422127,p.G1479W|NM_001098623,p.G1479W|ENST00000570156,p.G1571W|NM_001271223,p.G1571W|uc001hsq.2,p.G1571W|uc001hsn.4,p.G1479W|uc009xez.2,p.G1479W|NM_052843,p.G1479W|ENST00000284548,p.G1479W	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon15	c.G4435T	p.G1479W	AQAQTEVMWYKDGKKLSFSSKVRME	AQAQTEVMWYKDWKKLSFSSKVRME	6.0	6.0	unscreened	-	4134_1:228444477-228444477 G>T_AQAQTEVMWYKDWKKLSFSSKVRME
X:27765788-27765788 G>T	0.0	4134	LUNG	-	-	-	-	DCAF8L2	ENST00000451261,p.R259L|NM_001136533,p.R259L|uc011mjy.2,p.R259L	protein_coding, processed_transcript	uc011mjy.2	nonsynonymous SNV	exon1	c.G776T	p.R259L	GDDLKVIVWDWVRQRPVLNFESGHT	GDDLKVIVWDWVLQRPVLNFESGHT	1.0	10.0	unscreened	-	4134_X:27765788-27765788 G>T_GDDLKVIVWDWVLQRPVLNFESGHT
20:2797538-2797538 G>C	0.0	4134	LUNG	-	-	-	-	TMEM239	uc002wgx.2,p.S113T|NM_001167670,p.S113T|ENST00000380585,p.S113T|ENST00000361033,p.S156T|uc021vzw.1,p.S113T	protein_coding	uc021vzw.1	nonsynonymous SNV	exon1	c.G338C	p.S113T	RHLLPALLLLVLSALPALLFTASFL	RHLLPALLLLVLTALPALLFTASFL	1.0	10.0	unscreened	-	4134_20:2797538-2797538 G>C_RHLLPALLLLVLTALPALLFTASFL
7:29186488-29186488 T>A	0.0	4134	LUNG	-	-	-	-	CHN2	uc011jzs.2,p.F62L|ENST00000539406,p.F62L|ENST00000439384,p.F62L|NM_001293069,p.F62L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, lincRNA	uc011jzs.2	nonsynonymous SNV	exon2	c.T186A	p.F62L	RGAIQDLLASPGFTFGKRVVFDSHC	RGAIQDLLASPGLTFGKRVVFDSHC	4.0	2.0	unscreened	-	4134_7:29186488-29186488 T>A_RGAIQDLLASPGLTFGKRVVFDSHC
17:38548326-38548326 C>A	1.0	4134	LUNG	-	-	-	-	TOP2A	NM_001067,p.V1376L|ENST00000423485,p.V1376L|uc002huq.3,p.V1376L	retained_intron, protein_coding	uc002huq.3	nonsynonymous SNV	exon32	c.G4126T	p.V1376L	LSNKELKPQKSVVSDLEADDVKGSV	LSNKELKPQKSVLSDLEADDVKGSV	10.0	7.0	-	-	4134_17:38548326-38548326 C>A_LSNKELKPQKSVLSDLEADDVKGSV
14:23884361-23884361 T>A	0.0	4134	LUNG	-	-	-	-	MYH7	NM_000257,p.E1801V|uc001wjx.3,p.E1801V|ENST00000355349,p.E1801V	protein_coding	uc001wjx.3	nonsynonymous SNV	exon37	c.A5402T	p.E1801V	TIKDLQHRLDEAEQIALKGGKKQLQ	TIKDLQHRLDEAVQIALKGGKKQLQ	1.0	4.0	unscreened	-	4134_14:23884361-23884361 T>A_TIKDLQHRLDEAVQIALKGGKKQLQ
X:57935611-57935611 C>T	0.0	4134	LUNG	-	-	-	-	ZXDA	ENST00000358697,p.R415K|uc004dve.3,p.R415K|NM_007156,p.R415K	protein_coding	uc004dve.3	nonsynonymous SNV	exon1	c.G1244A	p.R415K	VSALFSHNRAHFREQELFSCSFPGC	VSALFSHNRAHFKEQELFSCSFPGC	3.0	4.0	unscreened	-	4134_X:57935611-57935611 C>T_VSALFSHNRAHFKEQELFSCSFPGC
12:40835739-40835739 G>A	0.0	4134	LUNG	-	-	-	-	MUC19	ENST00000425730,p.G696E	retained_intron, protein_coding, processed_transcript	ENST00000425730	nonsynonymous SNV	exon25	c.G2087A	p.G696E	TQNECQTICHIYGEGHVRTFDGKSY	TQNECQTICHIYEEGHVRTFDGKSY	1.0	9.0	unscreened	-	4134_12:40835739-40835739 G>A_TQNECQTICHIYEEGHVRTFDGKSY
12:22089574-22089574 G>A	0.0	4134	LUNG	-	-	-	-	ABCC9	ENST00000261201,p.S12L|ENST00000345162,p.S12L|ENST00000326684,p.S12L|ENST00000261200,p.S12L|NM_020297,p.S12L|NM_005691,p.S12L|uc001rfi.1,p.S12L|uc001rfl.1,p.S12L|uc001rfk.3,p.S12L|uc001rfh.3,p.S12L|ENST00000538350,p.S12L	protein_coding	uc001rfl.1	nonsynonymous SNV	exon3	c.C35T	p.S12L	MSLSFCGNNISSYNINDGVLQNSC	MSLSFCGNNISLYNINDGVLQNSC	3.0	10.0	unscreened	-	4134_12:22089574-22089574 G>A_MSLSFCGNNISLYNINDGVLQNSC
7:100547281-100547281 C>A	0.0	4134	LUNG	-	-	-	-	MUC3A	ENST00000379458,p.L9I|NM_005960,p.L9I	protein_coding	NM_005960	nonsynonymous SNV	exon1	c.C25A	p.L9I	MQLLGLLGLLWMLKASPWATG	MQLLGLLGILWMLKASPWATG	1.0	4.0	unscreened	-	4134_7:100547281-100547281 C>A_MQLLGLLGILWMLKASPWATG
19:2810339-2810339 G>A	1.0	4134	LUNG	-	-	-	-	THOP1	uc010xgz.2,p.R377Q|ENST00000587401,p.R42Q|ENST00000307741,p.R498Q|ENST00000586677,p.R377Q|NM_003249,p.R498Q|uc002lwj.3,p.R498Q	retained_intron, protein_coding, processed_transcript	uc010xgz.2	nonsynonymous SNV	exon7	c.G1130A	p.R377Q	AEFAMFSGTHVERDFVEAPSQMLEN	AEFAMFSGTHVEQDFVEAPSQMLEN	8.0	9.0	-	-	4134_19:2810339-2810339 G>A_AEFAMFSGTHVEQDFVEAPSQMLEN
14:61115697-61115697 C>G	1.0	4134	LUNG	-	-	-	-	SIX1	uc001xfb.4,p.E71Q|ENST00000247182,p.E71Q|NM_005982,p.E71Q	retained_intron, protein_coding	uc001xfb.4	nonsynonymous SNV	exon1	c.G211C	p.E71Q	HRGNFRELYKILESHQFSPHNHPKL	HRGNFRELYKILQSHQFSPHNHPKL	5.0	7.0	-	-	4134_14:61115697-61115697 C>G_HRGNFRELYKILQSHQFSPHNHPKL
17:76557001-76557001 C>G	0.0	4134	LUNG	-	-	-	-	DNAH17	NM_173628,p.E618Q|uc010dhp.2,p.E618Q|uc002jvv.2,p.E320Q|ENST00000585328,p.E618Q|ENST00000389840,p.E618Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dhp.2	nonsynonymous SNV	exon13	c.G1852C	p.E618Q	LKHVEHPVMSGAEAKLTYQKYDEMM	LKHVEHPVMSGAQAKLTYQKYDEMM	4.0	1.0	unscreened	-	4134_17:76557001-76557001 C>G_LKHVEHPVMSGAQAKLTYQKYDEMM
11:61665776-61665780 GCTTG>-	0.0	4134	LUNG	-	-	-	-	RAB3IL1	ENST00000301773,p.A347fs|NM_013401,p.A373fs|ENST00000526200,p.A56fs|uc001nso.4,p.A373fs|uc001nsp.4,p.A347fs|NM_001271686,p.A347fs|ENST00000394836,p.A373fs	retained_intron, protein_coding	uc001nsp.4	frameshift deletion	exon9	c.1041_1045del	p.A347fs	WEIMRLRKEMSLAKLGFFPQEA	WEIMRLRKEMSLARLLPPGGL	5.0	2.0	unscreened	-	4134_11:61665776-61665780 GCTTG>-_WEIMRLRKEMSLARLLPPGGL
15:85632647-85632647 G>T	0.0	4134	LUNG	-	-	-	-	PDE8A	ENST00000485596,p.Q238H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000485596	nonsynonymous SNV	exon7	c.G714T	p.Q238H	DAIEITSEDRFIQPCCSSSWFGAVH	DAIEITSEDRFIHPCCSSSWFGAVH	6.0	6.0	unscreened	-	4134_15:85632647-85632647 G>T_DAIEITSEDRFIHPCCSSSWFGAVH
9:113168812-113168812 T>G	0.0	4134	LUNG	-	-	-	-	SVEP1	ENST00000374469,p.D3000A|NM_153366,p.D3023A|uc010mty.3,p.D949A|ENST00000297826,p.D949A|ENST00000401783,p.D3023A|uc010mtz.3,p.D3023A	protein_coding, processed_transcript	uc010mtz.3	nonsynonymous SNV	exon38	c.A9068C	p.D3023A	VIEYGTVNGTDFDCGKAARIQCFKG	VIEYGTVNGTDFACGKAARIQCFKG	3.0	10.0	unscreened	-	4134_9:113168812-113168812 T>G_VIEYGTVNGTDFACGKAARIQCFKG
12:92821888-92821888 C>A	0.0	4134	LUNG	-	-	-	-	CLLU1OS	ENST00000378487,p.C12F|NM_001025232,p.C12F|ENST00000538965,p.C12F|uc001tcb.1,p.C12F	protein_coding	uc001tcb.1	nonsynonymous SNV	exon1	c.G35T	p.C12F	MNKLGHNELKECLKTATDSLQTVQ	MNKLGHNELKEFLKTATDSLQTVQ	1.0	10.0	unscreened	-	4134_12:92821888-92821888 C>A_MNKLGHNELKEFLKTATDSLQTVQ
6:83839159-83839159 C>T	0.0	4134	LUNG	-	-	-	-	DOPEY1	NM_001199942,p.S749L|uc003pjs.1,p.S758L|ENST00000237163,p.S739L|uc010kbl.1,p.S749L|uc011dyy.2,p.S749L|ENST00000349129,p.S758L|NM_015018,p.S758L|ENST00000369739,p.S749L	retained_intron, protein_coding, processed_transcript	uc011dyy.2	nonsynonymous SNV	exon16	c.C2246T	p.S749L	AFLAACQLFLECSSFPVYIAEGNHT	AFLAACQLFLECLSFPVYIAEGNHT	5.0	8.0	unscreened	-	4134_6:83839159-83839159 C>T_AFLAACQLFLECLSFPVYIAEGNHT
X:106228351-106228351 G>A	1.0	4134	LUNG	-	-	ID=COSM754723,COSM754722;OCCURENCE=1(lung)	-	MORC4	uc004emv.4,p.R217C|NM_001085354,p.R217C|NM_024657,p.R217C|ENST00000255495,p.R217C|ENST00000355610,p.R217C|uc004emu.4,p.R217C	retained_intron, protein_coding	uc004emv.4	nonsynonymous SNV	exon5	c.C649T	p.R217C	AQFDAIPGKKGTRVLIWNIRRNKNG	AQFDAIPGKKGTCVLIWNIRRNKNG	7.0	7.0	-	-	4134_X:106228351-106228351 G>A_AQFDAIPGKKGTCVLIWNIRRNKNG
19:17439038-17439038 G>A	0.0	4134	LUNG	-	-	-	-	ANO8	uc002ngf.2,p.P720L|ENST00000159087,p.P720L|NM_020959,p.P720L	retained_intron, protein_coding, nonsense_mediated_decay	uc002ngf.2	nonsynonymous SNV	exon13	c.C2159T	p.P720L	RQRRQNRSSWIDPPEEEHSPQLTQA	RQRRQNRSSWIDLPEEEHSPQLTQA	4.0	8.0	unscreened	-	4134_19:17439038-17439038 G>A_RQRRQNRSSWIDLPEEEHSPQLTQA
4:25929970-25929970 C>G	1.0	4134	LUNG	-	-	-	-	SMIM20	ENST00000506197,p.Q49E|uc003grw.4,p.Q49E|NM_001145432,p.Q49E	protein_coding, processed_transcript	uc003grw.4	nonsynonymous SNV	exon2	c.C145G	p.Q49E	KKEQAINRAGIVQEDVQPPGLKVWS	KKEQAINRAGIVEEDVQPPGLKVWS	8.0	2.0	-	-	4134_4:25929970-25929970 C>G_KKEQAINRAGIVEEDVQPPGLKVWS
8:2808684-2808684 C>A	0.0	4134	LUNG	-	-	-	-	CSMD1	NM_033225,p.V3385L|uc022aqr.1,p.V3385L|uc011kwj.2,p.V2700L|ENST00000400186,p.V3209L|ENST00000542608,p.V3208L|ENST00000602723,p.V3209L|ENST00000520002,p.V3386L|ENST00000537824,p.V3385L|uc010lrg.3,p.V1277L|ENST00000602557,p.V3386L	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon66	c.G10153T	p.V3385L	LTVDWFNATSSKVNATFSEASPVEL	LTVDWFNATSSKLNATFSEASPVEL	1.0	10.0	unscreened	-	4134_8:2808684-2808684 C>A_LTVDWFNATSSKLNATFSEASPVEL
1:87025675-87025675 A>C	0.0	4134	LUNG	-	-	-	-	CLCA4	NM_012128,p.K74Q|ENST00000370563,p.K74Q|uc009wcs.3,p.K74Q	protein_coding, processed_transcript	uc009wcs.3	nonsynonymous SNV	exon2	c.A220C	p.K74Q	YLFEATEKRFFFKNVSILIPENWKE	YLFEATEKRFFFQNVSILIPENWKE	1.0	9.0	unscreened	-	4134_1:87025675-87025675 A>C_YLFEATEKRFFFQNVSILIPENWKE
7:100547278-100547278 G>A	0.0	4134	LUNG	-	-	-	-	MUC3A	ENST00000379458,p.G8S|NM_005960,p.G8S	protein_coding	NM_005960	nonsynonymous SNV	exon1	c.G22A	p.G8S	MQLLGLLGLLWMLKASPWAT	MQLLGLLSLLWMLKASPWAT	1.0	4.0	unscreened	-	4134_7:100547278-100547278 G>A_MQLLGLLSLLWMLKASPWAT
X:100748558-100748558 A>C	0.0	4134	LUNG	-	-	-	-	ARMCX4	ENST00000423738,p.E1661A|NM_001256155,p.E1661A|uc031tkc.1,p.E1661A|uc031tkd.1,p.E1661A	protein_coding, processed_transcript, nonsense_mediated_decay	uc031tkd.1	nonsynonymous SNV	exon1	c.A4982C	p.E1661A	GPGDQAVDCSKPEFEDQACGGGSWA	GPGDQAVDCSKPAFEDQACGGGSWA	5.0	1.0	unscreened	-	4134_X:100748558-100748558 A>C_GPGDQAVDCSKPAFEDQACGGGSWA
7:123508989-123508989 C>T	0.0	4134	LUNG	-	-	-	-	HYAL4	uc003vlc.3,p.P221L|ENST00000483878,p.P221L|ENST00000476325,p.P221L|NM_012269,p.P221L|ENST00000223026,p.P221L|uc011knz.2,p.P221L	protein_coding, nonsense_mediated_decay	uc011knz.2	nonsynonymous SNV	exon2	c.C662T	p.P221L	SRPKGLWGYYLYPDCHNYNVYAPNY	SRPKGLWGYYLYLDCHNYNVYAPNY	1.0	5.0	unscreened	-	4134_7:123508989-123508989 C>T_SRPKGLWGYYLYLDCHNYNVYAPNY
1:175106011-175106011 G>A	0.0	4134	LUNG	-	-	-	-	TNN	ENST00000239462,p.R1161K|NM_022093,p.R1161K|uc001gkl.1,p.R1161K	protein_coding	uc001gkl.1	nonsynonymous SNV	exon17	c.G3482A	p.R1161K	NLTTGTPARYEVRVDLQTANESAYA	NLTTGTPARYEVKVDLQTANESAYA	1.0	10.0	unscreened	-	4134_1:175106011-175106011 G>A_NLTTGTPARYEVKVDLQTANESAYA
10:38120785-38120785 A>T	0.0	4134	LUNG	-	-	-	-	ZNF248	NM_001267597,p.S500T|uc010qeu.2,p.S500T|NM_021045,p.S500T|ENST00000395867,p.S500T|ENST00000357328,p.S500T|uc001izd.2,p.S500T	protein_coding, processed_transcript	uc010qeu.2	nonsynonymous SNV	exon6	c.T1498A	p.S500T	GEKPFICNECGKSFCVKSNLIVHQR	GEKPFICNECGKTFCVKSNLIVHQR	6.0	1.0	unscreened	-	4134_10:38120785-38120785 A>T_GEKPFICNECGKTFCVKSNLIVHQR
12:9334591-9334591 C>G	0.0	4134	LUNG	-	-	-	-	PZP	uc009zgl.3,p.E426Q|uc001qvl.3,p.E557Q|ENST00000261336,p.E557Q|ENST00000381997,p.E426Q|NM_002864,p.E557Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc009zgl.3	nonsynonymous SNV	exon13	c.G1276C	p.E426Q	GEVVGDSEKFEIENCLANKVDLSFS	GEVVGDSEKFEIQNCLANKVDLSFS	2.0	10.0	unscreened	-	4134_12:9334591-9334591 C>G_GEVVGDSEKFEIQNCLANKVDLSFS
X:12904058-12904058 A>T	0.0	4134	LUNG	-	-	-	-	TLR7	ENST00000380659,p.Q144L|NM_016562,p.Q144L|uc004cvc.3,p.Q144L	protein_coding, processed_transcript	uc004cvc.3	nonsynonymous SNV	exon3	c.A431T	p.Q144L	LYLDGNQLLEIPQGLPPSLQLLSLE	LYLDGNQLLEIPLGLPPSLQLLSLE	4.0	4.0	unscreened	-	4134_X:12904058-12904058 A>T_LYLDGNQLLEIPLGLPPSLQLLSLE
10:65140212-65140212 C>T	0.0	4134	LUNG	-	-	-	-	JMJD1C	uc001jmr.1,p.D67N|NM_032776,p.D67N|uc001jmn.3,p.D67N|ENST00000399262,p.D67N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jmr.1	nonsynonymous SNV	exon2	c.G199A	p.D67N	LAVYVEFDDLEWDKREWVKVYEDFS	LAVYVEFDDLEWNKREWVKVYEDFS	8.0	1.0	unscreened	-	4134_10:65140212-65140212 C>T_LAVYVEFDDLEWNKREWVKVYEDFS
9:8389246-8389246 C>T	0.0	4134	LUNG	-	-	-	-	PTPRD	uc022bdj.1,p.E1048K|ENST00000540109,p.E1458K|ENST00000397606,p.E1051K|ENST00000356435,p.E1458K|NM_001040712,p.E1048K|uc003zks.3,p.E1051K|uc003zkp.3,p.E1052K|ENST00000355233,p.E1052K|ENST00000397611,p.E1048K|ENST00000537002,p.E1048K|NM_130392,p.E1052K|ENST00000397617,p.E1051K|uc003zkk.3,p.E1458K|uc003zkq.3,p.E1051K|uc003zkr.3,p.E1042K|NM_001171025,p.E1051K|NM_130393,p.E1042K|ENST00000360074,p.E1445K|ENST00000381196,p.E1458K|ENST00000486161,p.E1051K|ENST00000358503,p.E1436K|NM_002839,p.E1458K|NM_130391,p.E1051K	retained_intron, protein_coding, processed_transcript	uc022bdj.1	nonsynonymous SNV	exon21	c.G3142A	p.E1048K	QRSATVVMMTKLEERSRVKCDQYWP	QRSATVVMMTKLKERSRVKCDQYWP	4.0	9.0	unscreened	-	4134_9:8389246-8389246 C>T_QRSATVVMMTKLKERSRVKCDQYWP
8:101078488-101078488 C>G	0.0	4134	LUNG	-	-	-	-	RGS22	NM_015668,p.A211P|NM_001286692,p.A199P|uc003yja.1,p.A30P|uc022azh.1,p.A115P|uc003yjc.1,p.A199P|uc003yjb.1,p.A211P|ENST00000523287,p.A30P|ENST00000360863,p.A211P|ENST00000523437,p.A199P|NM_001286693,p.A30P|ENST00000519725,p.A211P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022azh.1	nonsynonymous SNV	exon4	c.G343C	p.A115P	ASYTQTKDWFALAKQSQQTVSTFSL	ASYTQTKDWFALPKQSQQTVSTFSL	1.0	2.0	unscreened	-	4134_8:101078488-101078488 C>G_ASYTQTKDWFALPKQSQQTVSTFSL
10:98079065-98079066 CT>-	0.0	4134	LUNG	-	-	-	-	DNTT	NM_001017520,p.T142fs|ENST00000371174,p.T142fs|uc001kmf.3,p.T142fs|ENST00000419175,p.T142fs|uc001kmg.3,p.T142fs|NM_004088,p.T142fs	protein_coding	uc001kmg.3	frameshift deletion	exon3	c.425_426del	p.T142fs	DYSDSTNPGPPKTPPIAVQKISQYA	DYSDSTNPGPPKTTNCCTKDLPVCVSEKNHFKQL	1.0	8.0	unscreened	-	4134_10:98079065-98079066 CT>-_DYSDSTNPGPPKTTNCCTKDLPVCVSEKNHFKQL
11:1857986-1857986 C>-	0.0	4134	LUNG	-	-	-	-	SYT8	NM_001290333,p.P243fs|ENST00000381968,p.P243fs|ENST00000341958,p.P229fs|uc001lue.1,p.P243fs|NM_138567,p.P243fs|NM_001290334,p.P242fs|uc001lud.2,p.P243fs|NM_001290332,p.P244fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001lue.1	frameshift deletion	exon7	c.727delC	p.P243fs	HWYLLGPPAATQPEQVGELCFSLRY	HWYLLGPPAATQPSRSGSCASLSGTCPAQAG	5.0	8.0	unscreened	-	4134_11:1857986-1857986 C>-_HWYLLGPPAATQPSRSGSCASLSGTCPAQAG
7:119915554-119915554 G>T	0.0	4134	LUNG	-	-	-	-	KCND2	ENST00000331113,p.V290F|uc003vjj.1,p.V290F|NM_012281,p.V290F	retained_intron, protein_coding	uc003vjj.1	nonsynonymous SNV	exon1	c.G868T	p.V290F	VMTDNEDVSGAFVTLRVFRVFRIFK	VMTDNEDVSGAFFTLRVFRVFRIFK	2.0	5.0	unscreened	-	4134_7:119915554-119915554 G>T_VMTDNEDVSGAFFTLRVFRVFRIFK
9:78953177-78953177 G>C	0.0	4134	LUNG	-	-	-	-	PCSK5	ENST00000545128,p.E1567Q|NM_001190482,p.E1567Q|uc004akc.2,p.E1567Q|ENST00000424854,p.E1267Q	protein_coding	uc004akc.2	nonsynonymous SNV	exon34	c.G4699C	p.E1567Q	EGYYADNSTGRCERCNRSCKGCQGP	EGYYADNSTGRCQRCNRSCKGCQGP	3.0	10.0	-	-	4134_9:78953177-78953177 G>C_EGYYADNSTGRCQRCNRSCKGCQGP
17:76556879-76556879 C>G	0.0	4134	LUNG	-	-	-	-	DNAH17	uc002jvv.2,p.Q360H|ENST00000389840,p.Q658H|ENST00000585328,p.Q658H|uc010dhp.2,p.Q658H|NM_173628,p.Q658H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dhp.2	nonsynonymous SNV	exon13	c.G1974C	p.Q658H	AGVDQDCHFNLGQPLILRDAASNLI	AGVDQDCHFNLGHPLILRDAASNLI	4.0	8.0	unscreened	-	4134_17:76556879-76556879 C>G_AGVDQDCHFNLGHPLILRDAASNLI
X:142596928-142596928 C>T	0.0	4134	LUNG	-	-	-	-	SPANXN3	ENST00000370503,p.E48K|uc004fbw.3,p.E48K	protein_coding	uc004fbw.3	nonsynonymous SNV	exon2	c.G142A	p.E48K	APEQSLKKTKTSEYPIIFVYYLRKG	APEQSLKKTKTSKYPIIFVYYLRKG	1.0	8.0	unscreened	-	4134_X:142596928-142596928 C>T_APEQSLKKTKTSKYPIIFVYYLRKG
X:142596928-142596928 C>T	0.0	4134	LUNG	-	-	-	-	SPANXN3	NM_001009609,p.E48K	protein_coding	NM_001009609	nonsynonymous SNV	exon2	c.G142A	p.E48K	APEQSLKNTKTSEYPIIFVYYLRKG	APEQSLKNTKTSKYPIIFVYYLRKG	1.0	8.0	unscreened	-	4134_X:142596928-142596928 C>T_APEQSLKNTKTSKYPIIFVYYLRKG
11:64374738-64374738 T>C	0.0	4134	LUNG	-	-	-	-	NRXN2	uc001oas.3,p.E1620G|NM_015080,p.E1690G|uc001oap.3,p.E644G|ENST00000409571,p.E1683G|NM_138734,p.E644G|NM_138732,p.E1620G|ENST00000377559,p.E1620G|ENST00000301894,p.E644G|uc021qkw.1,p.E1690G|uc021qkx.1,p.E1620G|uc001oao.3,p.E330G|ENST00000265459,p.E1690G|uc001oaq.3,p.E1357G|ENST00000377551,p.E1690G	retained_intron, protein_coding, processed_transcript	uc021qkx.1	nonsynonymous SNV	exon20	c.A4859G	p.E1620G	SNSAQSNGAVVKEKAPAAPKTPSKA	SNSAQSNGAVVKGKAPAAPKTPSKA	2.0	9.0	unscreened	-	4134_11:64374738-64374738 T>C_SNSAQSNGAVVKGKAPAAPKTPSKA
2:176982132-176982132 T>C	0.0	4134	LUNG	-	-	-	-	HOXD10	uc002ukj.3,p.S191P|ENST00000249501,p.S191P|NM_002148,p.S191P	protein_coding, processed_transcript	uc002ukj.3	nonsynonymous SNV	exon1	c.T571C	p.S191P	QLNPRGAAKPQLSAAQLQMEKKMNE	QLNPRGAAKPQLPAAQLQMEKKMNE	3.0	4.0	unscreened	-	4134_2:176982132-176982132 T>C_QLNPRGAAKPQLPAAQLQMEKKMNE
5:112154933-112154933 C>T	0.0	4134	LUNG	-	-	ID=COSM1432160;OCCURENCE=1(large_intestine)	1	APC	ENST00000508376,p.R402C|uc010jbz.3,p.R119C|NM_001127511,p.R384C|uc003kpy.4,p.R402C|ENST00000457016,p.R402C|ENST00000257430,p.R402C|NM_000038,p.R402C|ENST00000507379,p.R384C|ENST00000512211,p.R402C|uc003kpz.4,p.R402C|NM_001127510,p.R402C|uc011cvt.2,p.R384C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cvt.2	nonsynonymous SNV	exon8	c.C1150T	p.R384C	IIHSQPDDKRGRREIRVLHLLEQIR	IIHSQPDDKRGRCEIRVLHLLEQIR	6.0	8.0	-	-	4134_5:112154933-112154933 C>T_IIHSQPDDKRGRCEIRVLHLLEQIR
7:48288932-48288932 C>G	0.0	4134	LUNG	-	-	-	-	ABCA13	NM_152701,p.F663L|uc003toq.2,p.F663L|ENST00000435803,p.F663L|uc010kyr.2,p.F166L	retained_intron, protein_coding, nonsense_mediated_decay	uc010kyr.2	nonsynonymous SNV	exon16	c.C498G	p.F166L	CEVAQYVNMQESFQNRLLAFPEESP	CEVAQYVNMQESLQNRLLAFPEESP	1.0	1.0	unscreened	-	4134_7:48288932-48288932 C>G_CEVAQYVNMQESLQNRLLAFPEESP
2:110107332-110107332 G>T	0.0	4134	LUNG	-	-	-	-	SH3RF3	uc010ywt.1,p.R807L|NM_001099289,p.R807L|ENST00000309415,p.R807L	protein_coding	uc010ywt.1	nonsynonymous SNV	exon9	c.G2420T	p.R807L	AGSLDLNFTSPSRQAPLSMAAIRPE	AGSLDLNFTSPSLQAPLSMAAIRPE	4.0	2.0	unscreened	-	4134_2:110107332-110107332 G>T_AGSLDLNFTSPSLQAPLSMAAIRPE
19:21991567-21991567 T>A	0.0	4134	LUNG	-	-	-	-	ZNF43	uc002nql.4,p.K418N|uc002nqm.4,p.K418N|ENST00000595461,p.K418N|NM_003423,p.K424N|uc002nqk.4,p.K359N|uc010ecv.4,p.K418N|NM_001256651,p.K359N|NM_001256650,p.K418N|ENST00000598381,p.K418N|NM_001256653,p.K433N|uc002nqj.4,p.K424N|NM_001256648,p.K418N|uc031rkb.1,p.K359N|NM_001256654,p.K359N|uc031rka.1,p.K433N|NM_001256649,p.K418N|ENST00000594012,p.K418N|ENST00000354959,p.K424N	retained_intron, protein_coding, processed_transcript	uc031rkb.1	nonsynonymous SNV	exon3	c.A1077T	p.K359N	KLTEHKLTHTGEKPYKCEECGKAFN	KLTEHKLTHTGENPYKCEECGKAFN	5.0	5.0	-	-	4134_19:21991567-21991567 T>A_KLTEHKLTHTGENPYKCEECGKAFN
X:141291520-141291520 C>A	0.0	4134	LUNG	-	-	ID=COSM611420;OCCURENCE=1(lung)	-	MAGEC2	uc022cfj.1,p.S85I|uc004fbu.2,p.S85I|ENST00000247452,p.S85I|NM_016249,p.S85I	protein_coding	uc022cfj.1	nonsynonymous SNV	exon1	c.G254T	p.S85I	SGVIPNLTESIPSSPPQGPPQGPSQ	SGVIPNLTESIPISPPQGPPQGPSQ	10.0	4.0	unscreened	-	4134_X:141291520-141291520 C>A_SGVIPNLTESIPISPPQGPPQGPSQ
11:56000043-56000043 A>C	0.0	4134	LUNG	-	-	-	-	OR5T2	uc010rjc.2,p.F207V|NM_001004746,p.F207V|ENST00000313264,p.F207V	protein_coding	uc010rjc.2	nonsynonymous SNV	exon1	c.T619G	p.F207V	ATIHTVATFSLSFCGANEIRRVFCD	ATIHTVATFSLSVCGANEIRRVFCD	1.0	3.0	unscreened	-	4134_11:56000043-56000043 A>C_ATIHTVATFSLSVCGANEIRRVFCD
12:96266162-96266162 C>T	0.0	4134	LUNG	-	-	-	-	CCDC38	ENST00000344280,p.G452D|uc001tek.2,p.G452D|NM_182496,p.G452D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001tek.2	nonsynonymous SNV	exon14	c.G1355A	p.G452D	VYKVCIGDAEDDGLNPIQKLVKVES	VYKVCIGDAEDDDLNPIQKLVKVES	1.0	10.0	unscreened	-	4134_12:96266162-96266162 C>T_VYKVCIGDAEDDDLNPIQKLVKVES
1:144876005-144876005 G>C	0.0	4134	LUNG	-	-	-	1	PDE4DIP	NM_001198832,p.Q1515E|ENST00000369356,p.Q1559E|uc001elv.4,p.Q566E|NM_014644,p.Q1559E|uc001elw.4,p.Q1559E|ENST00000530740,p.Q1695E|NM_001198834,p.Q1559E|uc001elx.4,p.Q1515E|ENST00000369359,p.Q1695E|ENST00000313382,p.Q1515E|ENST00000369354,p.Q1559E|uc021ouh.1,p.Q1559E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ouh.1	nonsynonymous SNV	exon29	c.C4675G	p.Q1559E	KLSTKDHKSEKDQAGLEPLALRLSR	KLSTKDHKSEKDEAGLEPLALRLSR	9.0	3.0	unscreened	-	4134_1:144876005-144876005 G>C_KLSTKDHKSEKDEAGLEPLALRLSR
10:88702930-88702930 C>G	0.0	4134	LUNG	-	-	-	-	MMRN2	ENST00000372027,p.Q537H|uc009xtb.2,p.Q494H|NM_024756,p.Q537H|uc010qmn.2,p.Q180H|uc001kea.3,p.Q537H	protein_coding, processed_transcript	uc010qmn.2	nonsynonymous SNV	exon5	c.G540C	p.Q180H	RRQLDGSSLQALQNAVDAVSLAVDA	RRQLDGSSLQALHNAVDAVSLAVDA	5.0	2.0	unscreened	-	4134_10:88702930-88702930 C>G_RRQLDGSSLQALHNAVDAVSLAVDA
19:35843283-35843283 G>T	0.0	4134	LUNG	-	-	-	-	FFAR1	ENST00000246553,p.G277C|NM_005303,p.G277C|uc002nzc.2,p.G277C	protein_coding	uc002nzc.2	nonsynonymous SNV	exon1	c.G829T	p.G277C	GAWSVVLNPLVTGYLGRGPGLKTVC	GAWSVVLNPLVTCYLGRGPGLKTVC	1.0	9.0	unscreened	-	4134_19:35843283-35843283 G>T_GAWSVVLNPLVTCYLGRGPGLKTVC
20:2797538-2797538 G>C	0.0	4134	LUNG	-	-	-	-	TMEM239	ENST00000380593,p.Q203H|uc002wgv.3,p.Q203H|ENST00000554164,p.Q203H	protein_coding	uc002wgv.3	nonsynonymous SNV	exon3	c.G609C	p.Q203H	APPATGSPAAGAQCSACPPLHGLLP	APPATGSPAAGAHCSACPPLHGLLP	1.0	10.0	unscreened	-	4134_20:2797538-2797538 G>C_APPATGSPAAGAHCSACPPLHGLLP
1:160784398-160784398 G>C	0.0	4134	LUNG	-	-	-	-	LY9	uc001fwy.1,p.D209H|uc010pjs.2,p.D307H|uc001fwu.4,p.D307H|ENST00000368041,p.D267H|uc001fwv.4,p.D307H|NM_001261457,p.D307H|uc001fww.4,p.D307H|ENST00000341032,p.D307H|ENST00000263285,p.D307H|ENST00000368037,p.D276H|NM_002348,p.D307H|NM_001261456,p.D307H	retained_intron, protein_coding, processed_transcript	uc010pjs.2	nonsynonymous SNV	exon4	c.G919C	p.D307H	EAATADPLIKSRDPYKNRVWVSSQD	EAATADPLIKSRHPYKNRVWVSSQD	2.0	9.0	unscreened	-	4134_1:160784398-160784398 G>C_EAATADPLIKSRHPYKNRVWVSSQD
X:153539496-153539496 G>C	0.0	4134	LUNG	-	-	-	-	TKTL1	uc004fkg.3,p.E193Q|ENST00000369915,p.E193Q|NM_001145933,p.E187Q|NM_001145934,p.E137Q|uc011mzl.2,p.E187Q|NM_012253,p.E193Q|ENST00000369912,p.E137Q|uc004fkh.3,p.E137Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc011mzl.2	nonsynonymous SNV	exon5	c.G559C	p.E187Q	GWNTYVVDGRDVEALCQVFWQASQV	GWNTYVVDGRDVQALCQVFWQASQV	1.0	1.0	unscreened	-	4134_X:153539496-153539496 G>C_GWNTYVVDGRDVQALCQVFWQASQV
16:15853471-15853471 G>T	0.0	4134	LUNG	-	-	-	1	MYH11	uc002ddv.3,p.L462M|ENST00000452625,p.L462M|NM_022844,p.L455M|NM_002474,p.L455M|ENST00000396324,p.L462M|NM_001040114,p.L462M|ENST00000300036,p.L455M|uc002dea.1,p.L161M|NM_001040113,p.L462M|uc002ddx.3,p.L462M|uc010bvg.3,p.L287M|uc002ddy.3,p.L455M|uc002ddw.3,p.L455M|ENST00000576790,p.L455M|ENST00000338282,p.L455M	retained_intron, protein_coding, processed_transcript	uc010bvg.3	nonsynonymous SNV	exon13	c.C859A	p.L287M	ALDKTHRQGASFLGILDIAGFEIFE	ALDKTHRQGASFMGILDIAGFEIFE	3.0	2.0	unscreened	-	4134_16:15853471-15853471 G>T_ALDKTHRQGASFMGILDIAGFEIFE
4:102946395-102946395 G>C	0.0	4134	LUNG	-	-	-	-	BANK1	NM_001127507,p.K308N|uc003hvy.4,p.K441N|ENST00000508653,p.K308N|uc003hvx.4,p.K426N|NM_017935,p.K441N|NM_001083907,p.K411N|ENST00000322953,p.K441N|uc010ill.3,p.K308N|uc003hvz.4,p.K411N|ENST00000444316,p.K411N|ENST00000428908,p.K308N|ENST00000504592,p.K426N	retained_intron, protein_coding, processed_transcript	uc010ill.3	nonsynonymous SNV	exon8	c.G924C	p.K308N	STQNPAFHHESRKTYGQSADGAEAN	STQNPAFHHESRNTYGQSADGAEAN	4.0	2.0	unscreened	-	4134_4:102946395-102946395 G>C_STQNPAFHHESRNTYGQSADGAEAN
7:100549621-100549621 C>T	0.0	4134	LUNG	-	-	-	-	MUC3A	ENST00000379458,p.P68S|NM_005960,p.P68S	protein_coding	NM_005960	nonsynonymous SNV	exon2	c.C202T	p.P68S	WPLGVPQLASPAPGHRENAPMTLTT	WPLGVPQLASPASGHRENAPMTLTT	1.0	1.0	unscreened	-	4134_7:100549621-100549621 C>T_WPLGVPQLASPASGHRENAPMTLTT
2:48132726-48132740 GGCTGCTGCTGGGGC>-	1.0	4134	LUNG	-	-	-	1	FBXO11	uc002rwg.2,p.40_45del|uc002rwe.3,p.40_45del|NM_001190274,p.40_45del|ENST00000403359,p.40_45del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002rwg.2	nonframeshift deletion	exon1	c.120_134del	p.40_45del	PQQPPPQPPQQQPPQQQPPPPPQQQ	PQQPPPQPPQQQPPPPPQQQQQQQP	9.0	5.0	-	-	4134_2:48132726-48132740 GGCTGCTGCTGGGGC>-_PQQPPPQPPQQQPPPPPQQQQQQQP
15:88472655-88472655 G>T	0.0	4134	LUNG	-	-	-	1	NTRK3	uc021sua.1,p.P626T|uc002bmh.2,p.P626T|ENST00000394480,p.P634T|uc010upl.1,p.P536T|ENST00000360948,p.P634T|NM_001243101,p.P626T|uc002bmf.2,p.P634T|ENST00000542733,p.P536T|uc002bme.2,p.P634T|ENST00000557856,p.P626T|ENST00000357724,p.P626T|NM_002530,p.P634T|uc010bnh.1,p.P626T|NM_001012338,p.P634T|ENST00000355254,p.P634T|ENST00000558676,p.P626T	protein_coding, processed_transcript	uc021sua.1	nonsynonymous SNV	exon16	c.C1876A	p.P626T	HGDLNKFLRAHGPDAMILVDGQPRQ	HGDLNKFLRAHGTDAMILVDGQPRQ	1.0	8.0	unscreened	-	4134_15:88472655-88472655 G>T_HGDLNKFLRAHGTDAMILVDGQPRQ
2:186672705-186672705 C>G	0.0	4134	LUNG	-	-	-	-	FSIP2	ENST00000424728,p.I6224M|ENST00000343098,p.I6313M|uc002upl.3,p.I6313M|NM_173651,p.I6313M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon17	c.C18939G	p.I6313M	ITSKVLNSVQEFISKSKIKLVPPTK	ITSKVLNSVQEFMSKSKIKLVPPTK	1.0	8.0	unscreened	-	4134_2:186672705-186672705 C>G_ITSKVLNSVQEFMSKSKIKLVPPTK
16:1143788-1143788 A>T	0.0	4134	LUNG	-	-	-	-	C1QTNF8	ENST00000328449,p.C158S|uc010uuw.1,p.C158S|NM_207419,p.C158S	protein_coding	uc010uuw.1	nonsynonymous SNV	exon4	c.T472A	p.C158S	DGAFDLAAGRFLCTVPGVYFLSLNV	DGAFDLAAGRFLSTVPGVYFLSLNV	1.0	4.0	unscreened	-	4134_16:1143788-1143788 A>T_DGAFDLAAGRFLSTVPGVYFLSLNV
17:56280480-56280480 C>T	0.0	4134	LUNG	-	-	-	-	EPX	ENST00000225371,p.P583S|NM_000502,p.P583S|uc002ivq.3,p.P583S	protein_coding	uc002ivq.3	nonsynonymous SNV	exon11	c.C1747T	p.P583S	YNAWRRFCGLSQPRNLAQLSRVLKN	YNAWRRFCGLSQSRNLAQLSRVLKN	1.0	5.0	unscreened	-	4134_17:56280480-56280480 C>T_YNAWRRFCGLSQSRNLAQLSRVLKN
1:216108014-216108014 G>A	0.0	4134	LUNG	-	-	-	-	USH2A	ENST00000307340,p.S2415L|uc001hku.1,p.S2415L|NM_206933,p.S2415L|ENST00000366943,p.S2415L	retained_intron, protein_coding	uc001hku.1	nonsynonymous SNV	exon38	c.C7244T	p.S2415L	VPFTNYTVQVNISNSQGSLITDPIT	VPFTNYTVQVNILNSQGSLITDPIT	1.0	1.0	unscreened	-	4134_1:216108014-216108014 G>A_VPFTNYTVQVNILNSQGSLITDPIT
9:99580641-99580641 A>T	0.0	4134	LUNG	-	-	-	-	ZNF782	uc011lup.1,p.I423N|ENST00000535338,p.I423N|uc004awp.1,p.I555N|ENST00000481138,p.I555N|NM_001001662,p.I555N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lup.1	nonsynonymous SNV	exon3	c.T1268A	p.I423N	FGQKSQLRGHHRIHTGEKPYKCNHC	FGQKSQLRGHHRNHTGEKPYKCNHC	4.0	1.0	unscreened	-	4134_9:99580641-99580641 A>T_FGQKSQLRGHHRNHTGEKPYKCNHC
3:27762917-27762917 G>A	0.0	4134	LUNG	-	-	-	-	EOMES	uc003cdx.4,p.T290M|ENST00000449599,p.T290M|uc003cdy.4,p.T290M|uc010hfn.3,p.T290M|ENST00000295743,p.T290M|NM_005442,p.T290M|NM_001278182,p.T290M	protein_coding, processed_transcript	uc010hfn.3	nonsynonymous SNV	exon1	c.C869T	p.T290M	LKFHRHQTEMIITKQGRRMFPFLSF	LKFHRHQTEMIIMKQGRRMFPFLSF	5.0	6.0	unscreened	-	4134_3:27762917-27762917 G>A_LKFHRHQTEMIIMKQGRRMFPFLSF
8:75926285-75926285 T>A	0.0	4134	LUNG	-	-	-	-	CRISPLD1	uc003yan.3,p.W192R|NM_031461,p.W192R|ENST00000262207,p.W192R	protein_coding, processed_transcript	uc003yan.3	nonsynonymous SNV	exon5	c.T574A	p.W192R	GCAINLCHNMNIWGQIWPKAVYLVC	GCAINLCHNMNIRGQIWPKAVYLVC	1.0	2.0	unscreened	-	4134_8:75926285-75926285 T>A_GCAINLCHNMNIRGQIWPKAVYLVC
8:75926286-75926286 G>T	0.0	4134	LUNG	-	-	-	-	CRISPLD1	NM_031461,p.W192L|ENST00000262207,p.W192L|uc003yan.3,p.W192L	protein_coding, processed_transcript	uc003yan.3	nonsynonymous SNV	exon5	c.G575T	p.W192L	GCAINLCHNMNIWGQIWPKAVYLVC	GCAINLCHNMNILGQIWPKAVYLVC	1.0	2.0	unscreened	-	4134_8:75926286-75926286 G>T_GCAINLCHNMNILGQIWPKAVYLVC
2:238729738-238729738 G>C	0.0	4134	LUNG	-	-	-	-	RBM44	NM_001080504,p.K647N|uc002vxi.4,p.K647N|ENST00000409864,p.K647N|ENST00000316997,p.K647N	retained_intron, protein_coding, processed_transcript	uc002vxi.4	nonsynonymous SNV	exon6	c.G1941C	p.K647N	EGLNMNLSSNSAKKELGSALLSLLG	EGLNMNLSSNSANKELGSALLSLLG	1.0	2.0	unscreened	-	4134_2:238729738-238729738 G>C_EGLNMNLSSNSANKELGSALLSLLG
1:175048477-175048477 C>A	0.0	4134	LUNG	-	-	-	-	TNN	ENST00000239462,p.R140S|uc001gkl.1,p.R140S|NM_022093,p.R140S|uc010pmx.1,p.R140S	protein_coding	uc010pmx.1	nonsynonymous SNV	exon2	c.C418A	p.R140S	AQRCCQGVTDLSRHCSGHGTFSLET	AQRCCQGVTDLSSHCSGHGTFSLET	1.0	9.0	unscreened	-	4134_1:175048477-175048477 C>A_AQRCCQGVTDLSSHCSGHGTFSLET
7:73097318-73097318 G>C	1.0	4134	LUNG	-	-	-	-	DNAJC30	uc003tys.1,p.R146G|ENST00000395176,p.R146G|NM_032317,p.R146G	protein_coding	uc003tys.1	nonsynonymous SNV	exon1	c.C436G	p.R146G	DPGSPRTPPPTSRTHDGSRASPGAN	DPGSPRTPPPTSGTHDGSRASPGAN	7.0	3.0	-	-	4134_7:73097318-73097318 G>C_DPGSPRTPPPTSGTHDGSRASPGAN
17:10549113-10549113 T>C	0.0	4134	LUNG	-	-	-	-	MYH3	uc002gmq.2,p.Y351C|ENST00000226209,p.Y351C|NM_002470,p.Y351C|ENST00000583535,p.Y351C	retained_intron, protein_coding	uc002gmq.2	nonsynonymous SNV	exon12	c.A1052G	p.Y351C	ILGFTPEEKSGLYKLTGAVMHYGNM	ILGFTPEEKSGLCKLTGAVMHYGNM	3.0	8.0	unscreened	-	4134_17:10549113-10549113 T>C_ILGFTPEEKSGLCKLTGAVMHYGNM
14:21992276-21992276 G>A	0.0	4134	LUNG	-	-	-	-	SALL2	uc001wbe.3,p.P529L|ENST00000450879,p.P392L|NM_005407,p.P529L|uc010tly.2,p.P527L|NM_001291447,p.P392L|uc010tma.1,p.P394L|NM_001291446,p.P394L|ENST00000327430,p.P529L|uc010tlz.1,p.P392L	protein_coding	uc010tma.1	nonsynonymous SNV	exon3	c.C1181T	p.P394L	VEPKNKADENTPPGSEGSAISGVAE	VEPKNKADENTPLGSEGSAISGVAE	3.0	7.0	-	-	4134_14:21992276-21992276 G>A_VEPKNKADENTPLGSEGSAISGVAE
3:42251399-42251399 G>C	1.0	4134	LUNG	-	-	-	-	TRAK1	uc011azi.3,p.E629Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc011azi.3	nonsynonymous SNV	exon14	c.G1885C	p.E629Q	VDLDEVYCLNDFEEDDTAHHPGKCM	VDLDEVYCLNDFQEDDTAHHPGKCM	7.0	9.0	-	-	4134_3:42251399-42251399 G>C_VDLDEVYCLNDFQEDDTAHHPGKCM
15:43675604-43675604 C>T	0.0	4134	LUNG	-	-	-	-	TUBGCP4	uc001zro.3,p.P209S|ENST00000563412,p.P66S|uc001zrn.3,p.P209S|NM_001286414,p.P209S|ENST00000399460,p.P73S|ENST00000260383,p.P209S|ENST00000564079,p.P209S|NM_014444,p.P209S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zro.3	nonsynonymous SNV	exon7	c.C625T	p.P209S	LDQHEEFFIKQGPSSGNVSAQPEED	LDQHEEFFIKQGSSSGNVSAQPEED	6.0	8.0	unscreened	-	4134_15:43675604-43675604 C>T_LDQHEEFFIKQGSSSGNVSAQPEED
7:1784335-1784335 G>T	0.0	4134	LUNG	-	-	-	-	ELFN1	NM_001128636,p.D35Y|ENST00000541472,p.D35Y|uc031swk.1,p.D35Y|ENST00000561626,p.D35Y|ENST00000424383,p.D35Y|uc010ksg.2,p.D35Y	protein_coding	uc031swk.1	nonsynonymous SNV	exon1	c.G103T	p.D35Y	GLARADCWLIEGDKGFVWLAICSQN	GLARADCWLIEGYKGFVWLAICSQN	3.0	8.0	unscreened	-	4134_7:1784335-1784335 G>T_GLARADCWLIEGYKGFVWLAICSQN
9:32425842-32425891 TTTAAAGGATTCCAAGTTGCTCCTGAACATCATAATGACCATAAGACCTT>-	0.0	4134	LUNG	-	-	-	-	ACO1	ENST00000309951,p.F399fs|uc003zqw.4,p.F399fs|uc003zqx.4,p.F399fs|ENST00000541043,p.F300fs|NM_002197,p.F399fs|NM_001278352,p.F399fs|ENST00000379923,p.F399fs|uc010mjh.1,p.F233fs	protein_coding	uc010mjh.1	frameshift deletion	exon10	c.697_746del	p.F233fs	KDFESCLGAKQGFKGFQVAPEHHND	KDFESCLGAKQGYL	5.0	2.0	unscreened	-	4134_9:32425842-32425891 TTTAAAGGATTCCAAGTTGCTCCTGAACATCATAATGACCATAAGACCTT>-_KDFESCLGAKQGYL
1:216251450-216251450 T>G	0.0	4134	LUNG	-	-	-	-	USH2A	ENST00000366943,p.Q1851H|ENST00000307340,p.Q1851H|NM_206933,p.Q1851H|uc001hku.1,p.Q1851H	retained_intron, protein_coding	uc001hku.1	nonsynonymous SNV	exon27	c.A5553C	p.Q1851H	VGGIPQELLNSYQHLCLEQGFGGCM	VGGIPQELLNSYHHLCLEQGFGGCM	1.0	2.0	unscreened	-	4134_1:216251450-216251450 T>G_VGGIPQELLNSYHHLCLEQGFGGCM
7:122809232-122809232 C>T	0.0	4134	LUNG	-	-	-	-	SLC13A1	NM_022444,p.G175R|uc003vkm.3,p.G175R|ENST00000539873,p.G111R|ENST00000194130,p.G175R	protein_coding, nonsense_mediated_decay	uc003vkm.3	nonsynonymous SNV	exon4	c.G523A	p.G175R	AEVEATQMTYFNGSTNHGLEIDESV	AEVEATQMTYFNRSTNHGLEIDESV	1.0	4.0	unscreened	-	4134_7:122809232-122809232 C>T_AEVEATQMTYFNRSTNHGLEIDESV
8:21931302-21931302 G>A	0.0	4134	LUNG	-	-	-	-	DMTN	ENST00000443491,p.R239Q|NM_001114139,p.R239Q|ENST00000358242,p.R264Q|NM_001978,p.R264Q|NM_001114138,p.R264Q|uc022asy.1,p.R239Q|uc022asq.1,p.R264Q|uc022asr.1,p.R264Q|NM_001114136,p.R264Q|NM_001114137,p.R264Q|NM_001114135,p.R264Q|ENST00000517305,p.R264Q|ENST00000265800,p.R264Q|uc011kys.1,p.R224Q|uc022ass.1,p.R239Q|ENST00000523266,p.R264Q|uc022asx.1,p.R264Q|ENST00000519907,p.R264Q|ENST00000517600,p.R224Q|ENST00000415253,p.R264Q|ENST00000381470,p.R264Q|uc022ast.1,p.R264Q|ENST00000523782,p.R239Q|ENST00000432128,p.R264Q|uc022asw.1,p.R264Q|uc022asu.1,p.R264Q|uc022asv.1,p.R264Q	retained_intron, protein_coding, nonsense_mediated_decay	uc022asy.1	nonsynonymous SNV	exon8	c.G716A	p.R239Q	ILKEEMEKSLPIRRKTRSLPDRTPF	ILKEEMEKSLPIQRKTRSLPDRTPF	5.0	3.0	unscreened	-	4134_8:21931302-21931302 G>A_ILKEEMEKSLPIQRKTRSLPDRTPF
11:36614457-36614457 G>T	0.0	4134	LUNG	-	-	-	-	RAG2	uc021qgc.1,p.P421H|ENST00000311485,p.P421H|NM_001243785,p.P421H|uc021qge.1,p.P421H|NM_001243786,p.P421H|uc021qgd.1,p.P421H|NM_000536,p.P421H|uc001mwv.4,p.P421H	protein_coding, processed_transcript	uc021qge.1	nonsynonymous SNV	exon1	c.C1262A	p.P421H	DESETGYWITCCPTCDVDINTWVPF	DESETGYWITCCHTCDVDINTWVPF	1.0	4.0	unscreened	-	4134_11:36614457-36614457 G>T_DESETGYWITCCHTCDVDINTWVPF
7:77755148-77755148 C>T	0.0	4134	LUNG	-	-	-	-	MAGI2	uc003ugx.3,p.D1144N|uc010ldx.1,p.D737N|ENST00000522391,p.D1144N|ENST00000354212,p.D1144N|uc003ugy.3,p.D1130N|ENST00000419488,p.D1130N|NM_012301,p.D1144N|NM_001301128,p.D1130N	retained_intron, protein_coding, processed_transcript	uc010ldx.1	nonsynonymous SNV	exon15	c.G2209A	p.D737N	YPLSDYRQPQDFDYFTVDMEKGAKG	YPLSDYRQPQDFNYFTVDMEKGAKG	2.0	5.0	unscreened	-	4134_7:77755148-77755148 C>T_YPLSDYRQPQDFNYFTVDMEKGAKG
8:110984820-110984820 C>G	0.0	4134	LUNG	-	-	-	-	KCNV1	uc010mcw.3,p.V220L|NM_014379,p.V220L|ENST00000297404,p.V220L|uc003ynr.4,p.V220L|ENST00000524391,p.V220L	protein_coding	uc010mcw.3	nonsynonymous SNV	exon3	c.G658C	p.V220L	AARIFGVISIIFVVVSIINMALMSA	AARIFGVISIIFLVVSIINMALMSA	1.0	6.0	unscreened	-	4134_8:110984820-110984820 C>G_AARIFGVISIIFLVVSIINMALMSA
3:164783108-164783108 G>A	0.0	4134	LUNG	-	-	ID=COSM116707;OCCURENCE=1(large_intestine),1(ovary)	-	SI	uc003fei.3,p.R250C|ENST00000264382,p.R250C|NM_001041,p.R250C	retained_intron, protein_coding, nonsense_mediated_decay	uc003fei.3	nonsynonymous SNV	exon7	c.C748T	p.R250C	IYGIGEQVHKRFRHDLSWKTWPIFT	IYGIGEQVHKRFCHDLSWKTWPIFT	1.0	8.0	unscreened	-	4134_3:164783108-164783108 G>A_IYGIGEQVHKRFCHDLSWKTWPIFT
10:16967247-16967247 C>G	0.0	4134	LUNG	-	-	-	-	CUBN	NM_001081,p.K2213N|ENST00000377833,p.K2213N|uc001ioo.3,p.K2213N	protein_coding	uc001ioo.3	nonsynonymous SNV	exon43	c.G6639C	p.K2213N	NEGQGFKIKYEAKSLACGGNVYIHD	NEGQGFKIKYEANSLACGGNVYIHD	2.0	4.0	unscreened	-	4134_10:16967247-16967247 C>G_NEGQGFKIKYEANSLACGGNVYIHD
13:36748872-36748872 G>A	0.0	4134	LUNG	-	-	-	-	CCDC169-SOHLH2,SOHLH2	uc001uvj.3,p.A259V|ENST00000379881,p.A259V|ENST00000511166,p.A336V|NM_001198910,p.A336V|NM_017826,p.A259V|ENST00000554962,p.A336V|uc010tei.2,p.A336V	protein_coding	uc010tei.2	nonsynonymous SNV	exon12	c.C1007T	p.A336V	DYVKYIREKISPAVMAQITEALQSN	DYVKYIREKISPVVMAQITEALQSN	3.0	4.0	unscreened	-	4134_13:36748872-36748872 G>A_DYVKYIREKISPVVMAQITEALQSN
8:110457025-110457025 G>T	0.0	4134	LUNG	-	-	-	-	PKHD1L1	uc003yne.3,p.A1643S|ENST00000378402,p.A1643S|NM_177531,p.A1643S	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon38	c.G4927T	p.A1643S	ETVTLTVYNLGTAINTLSNEFDRRF	ETVTLTVYNLGTSINTLSNEFDRRF	1.0	2.0	unscreened	-	4134_8:110457025-110457025 G>T_ETVTLTVYNLGTSINTLSNEFDRRF
1:247921219-247921219 C>A	0.0	4134	LUNG	-	-	-	-	OR1C1	ENST00000408896,p.A164S|NM_012353,p.A164S|uc010pza.2,p.A164S	protein_coding	uc010pza.2	nonsynonymous SNV	exon1	c.G490T	p.A164S	TYLHALLHTVLIAQLSFCASNIIHH	TYLHALLHTVLISQLSFCASNIIHH	1.0	7.0	unscreened	-	4134_1:247921219-247921219 C>A_TYLHALLHTVLISQLSFCASNIIHH
7:100189332-100189332 G>A	0.0	4134	LUNG	-	-	-	-	FBXO24	ENST00000488079,p.D28N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000488079	nonsynonymous SNV	exon2	c.G82A	p.D28N	RACISRHLEAAADVSARAWPPC	RACISRHLEAAANVSARAWPPC	3.0	7.0	unscreened	-	4134_7:100189332-100189332 G>A_RACISRHLEAAANVSARAWPPC
5:93807376-93807376 C>T	0.0	4134	LUNG	-	-	-	-	KIAA0825	ENST00000427991,p.D506N|uc011cuk.2,p.D506N|ENST00000312498,p.D506N|ENST00000513200,p.D506N|NM_001145678,p.D506N	retained_intron, protein_coding, processed_transcript	uc011cuk.2	nonsynonymous SNV	exon9	c.G1516A	p.D506N	LDTMLPLALACRDDSFQEIRANLVE	LDTMLPLALACRNDSFQEIRANLVE	1.0	5.0	unscreened	-	4134_5:93807376-93807376 C>T_LDTMLPLALACRNDSFQEIRANLVE
10:30748340-30748340 C>G	0.0	4134	LUNG	-	-	-	-	MAP3K8	uc009xlf.2,p.Q395E|ENST00000263056,p.Q395E|NM_005204,p.Q395E|uc001ivi.2,p.Q395E|uc001ivj.2,p.Q395E|NM_001244134,p.Q395E|ENST00000375321,p.Q395E|ENST00000542547,p.Q395E	protein_coding	uc009xlf.2	nonsynonymous SNV	exon7	c.C1183G	p.Q395E	LKHEALNPPREDQPRCQSLDSALLE	LKHEALNPPREDEPRCQSLDSALLE	6.0	2.0	unscreened	-	4134_10:30748340-30748340 C>G_LKHEALNPPREDEPRCQSLDSALLE
11:55761465-55761465 C>G	0.0	4134	LUNG	-	-	-	-	OR5F1	NM_003697,p.V213L|ENST00000278409,p.V213L|uc010riv.2,p.V213L	protein_coding	uc010riv.2	nonsynonymous SNV	exon1	c.G637C	p.V213L	ILAGVNIVGTLLVILSSYSYVLFSI	ILAGVNIVGTLLLILSSYSYVLFSI	1.0	6.0	unscreened	-	4134_11:55761465-55761465 C>G_ILAGVNIVGTLLLILSSYSYVLFSI
2:11706711-11706711 C>T	0.0	4134	LUNG	-	-	-	-	GREB1	NM_014668,p.P128L|uc002rbn.1,p.P128L|uc002rbk.1,p.P128L|ENST00000381483,p.P128L|uc002rbm.3,p.P18L|ENST00000263834,p.P128L|uc002rbl.3,p.P128L|NM_148903,p.P128L|ENST00000389825,p.P18L|ENST00000234142,p.P128L|ENST00000381486,p.P128L|NM_033090,p.P128L	retained_intron, protein_coding	uc002rbn.1	nonsynonymous SNV	exon4	c.C383T	p.P128L	GFLLVGVKSPSLPDHLLVCAVDKRF	GFLLVGVKSPSLLDHLLVCAVDKRF	1.0	5.0	unscreened	-	4134_2:11706711-11706711 C>T_GFLLVGVKSPSLLDHLLVCAVDKRF
11:22281071-22281071 C>A	0.0	4134	LUNG	-	-	-	-	ANO5	uc001mqi.2,p.L472I|uc001mqj.2,p.L471I|ENST00000324559,p.L472I|NM_213599,p.L472I|NM_001142649,p.L471I	protein_coding, processed_transcript	uc001mqj.2	nonsynonymous SNV	exon15	c.C1411A	p.L471I	FLSGATVTLWMSLVVTSMVAVIVYR	FLSGATVTLWMSIVVTSMVAVIVYR	1.0	3.0	unscreened	-	4134_11:22281071-22281071 C>A_FLSGATVTLWMSIVVTSMVAVIVYR
12:29631807-29631807 C>T	0.0	4134	LUNG	-	-	-	-	OVCH1	NM_183378,p.D344N|ENST00000318184,p.D344N|uc001rix.1,p.D344N	protein_coding, nonsense_mediated_decay	uc001rix.1	nonsynonymous SNV	exon9	c.G1030A	p.D344N	ILDMEKQVGCDHDYVSLRSSSGVLF	ILDMEKQVGCDHNYVSLRSSSGVLF	1.0	8.0	unscreened	-	4134_12:29631807-29631807 C>T_ILDMEKQVGCDHNYVSLRSSSGVLF
11:102584577-102584577 T>C	0.0	4134	LUNG	-	-	-	-	MMP8	uc010rut.1,p.K285E	protein_coding, nonsense_mediated_decay	uc010rut.1	nonsynonymous SNV	exon7	c.A853G	p.K285E	RDLIFLFKDMITKDNSWSQVIPKAY	RDLIFLFKDMITEDNSWSQVIPKAY	1.0	8.0	unscreened	-	4134_11:102584577-102584577 T>C_RDLIFLFKDMITEDNSWSQVIPKAY
2:179412021-179412021 C>T	0.0	4134	LUNG	-	-	-	-	TTN	ENST00000589042,p.A31411T|uc031rqd.1,p.A29770T|uc031rqc.1,p.A31411T|uc021vtb.2,p.A22346T|ENST00000460472,p.A22346T|ENST00000342992,p.A28843T|uc021vsy.2,p.A28843T|NM_133378,p.A28843T|uc021vta.2,p.A22471T|NM_133437,p.A22538T|NM_001256850,p.A29770T|NM_003319,p.A22346T|ENST00000359218,p.A22471T|NM_001267550,p.A31411T|NM_133432,p.A22471T|ENST00000342175,p.A22538T|uc021vsz.2,p.A22538T|ENST00000591111,p.A29770T	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon290	c.G89308A	p.A29770T	PIIAEHPFVPPSAPTRPEVYHVSAN	PIIAEHPFVPPSTPTRPEVYHVSAN	1.0	4.0	unscreened	-	4134_2:179412021-179412021 C>T_PIIAEHPFVPPSTPTRPEVYHVSAN
17:79849356-79849356 C>T	0.0	4134	LUNG	-	-	-	-	ALYREF	ENST00000505490,p.R34Q|NM_005782,p.R34Q|uc002kbu.2,p.R34Q|ENST00000331204,p.R27Q	retained_intron, protein_coding, processed_transcript	uc002kbu.2	nonsynonymous SNV	exon1	c.G101A	p.R34Q	LNRSQRGGRGGGRGRGRAGSQGGRG	LNRSQRGGRGGGQGRGRAGSQGGRG	10.0	3.0	-	-	4134_17:79849356-79849356 C>T_LNRSQRGGRGGGQGRGRAGSQGGRG
4:166976368-166976368 G>T	0.0	4134	LUNG	-	-	-	-	TLL1	uc011cjn.2,p.K578N|uc011cjo.2,p.K379N|ENST00000507499,p.K578N|NM_012464,p.K555N|uc003irh.2,p.K555N|ENST00000061240,p.K555N	protein_coding, nonsense_mediated_decay	uc011cjo.2	nonsynonymous SNV	exon13	c.G1137T	p.K379N	EDIRSTSNTLWMKFVSDGTVNKAGF	EDIRSTSNTLWMNFVSDGTVNKAGF	2.0	3.0	unscreened	-	4134_4:166976368-166976368 G>T_EDIRSTSNTLWMNFVSDGTVNKAGF
22:22318303-22318303 G>T	0.0	4134	LUNG	-	-	-	-	TOP3B	uc010gtl.3,p.A399D|NM_001282113,p.A399D|ENST00000413067,p.A128D|NM_001282112,p.A399D|ENST00000357179,p.A399D|uc002zvt.4,p.A399D|uc002zvs.3,p.A399D|ENST00000398793,p.A399D|NM_003935,p.A399D	retained_intron, protein_coding, nonsense_mediated_decay	uc010gtl.3	nonsynonymous SNV	exon11	c.C1196A	p.A399D	HPPITPMKSATEAELGGDAWRLYEY	HPPITPMKSATEDELGGDAWRLYEY	7.0	7.0	unscreened	-	4134_22:22318303-22318303 G>T_HPPITPMKSATEDELGGDAWRLYEY
6:24588872-24588872 C>T	0.0	4134	LUNG	-	-	-	-	KIAA0319	uc011djp.2,p.E270K|NM_001168376,p.E270K|NM_001168375,p.E315K|ENST00000430948,p.E270K|uc011djr.1,p.E315K|uc011djq.1,p.E306K|ENST00000537886,p.E315K|ENST00000543707,p.E315K|NM_014809,p.E315K|NM_001168374,p.E306K|uc003neh.1,p.E315K|NM_001168377,p.E315K|ENST00000378214,p.E315K|uc011djo.2,p.E315K|ENST00000535378,p.E306K	protein_coding	uc011djr.1	nonsynonymous SNV	exon4	c.G943A	p.E315K	SIPTPPTSAAPSESTPSELPISPTT	SIPTPPTSAAPSKSTPSELPISPTT	1.0	2.0	unscreened	-	4134_6:24588872-24588872 C>T_SIPTPPTSAAPSKSTPSELPISPTT
16:72984372-72984372 T>C	0.0	4134	LUNG	-	-	-	1	ZFHX3	ENST00000397992,p.Y157C|NM_006885,p.Y1071C|uc002fck.3,p.Y1071C|uc002fcl.3,p.Y157C|ENST00000268489,p.Y1071C|NM_001164766,p.Y157C	retained_intron, protein_coding	uc002fcl.3	nonsynonymous SNV	exon2	c.A470G	p.Y157C	TVNSRHEASLKLYKHLQQHESGVEG	TVNSRHEASLKLCKHLQQHESGVEG	6.0	4.0	unscreened	-	4134_16:72984372-72984372 T>C_TVNSRHEASLKLCKHLQQHESGVEG
3:195515701-195515701 C>G	0.0	4134	LUNG	-	-	-	2	MUC4	ENST00000478156,p.R917T|ENST00000479406,p.R917T|ENST00000462323,p.R917T|ENST00000477086,p.R917T|ENST00000475231,p.R917T|ENST00000466475,p.R917T|NM_018406,p.R917T|ENST00000480843,p.R917T|ENST00000477756,p.R917T|uc021xjq.1,p.R799T|uc021xjp.1,p.R917T|ENST00000470451,p.R917T|ENST00000463781,p.R917T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjq.1	nonsynonymous SNV	exon1	c.G2396C	p.R799T	SRMAQTQRTRTSRGSDTISLASQAT	SRMAQTQRTRTSTGSDTISLASQAT	5.0	5.0	unscreened	-	4134_3:195515701-195515701 C>G_SRMAQTQRTRTSTGSDTISLASQAT
X:129162802-129162802 C>A	0.0	4134	LUNG	-	-	-	1	BCORL1	uc022cdu.1,p.T1424N|ENST00000540052,p.T1424N|NM_021946,p.T1424N|ENST00000359304,p.T1294N|ENST00000218147,p.T1424N	protein_coding, processed_transcript	uc022cdu.1	nonsynonymous SNV	exon7	c.C4271A	p.T1424N	NSEKPSGKRKCKTKHMATVSEEAKD	NSEKPSGKRKCKNKHMATVSEEAKD	4.0	2.0	unscreened	-	4134_X:129162802-129162802 C>A_NSEKPSGKRKCKNKHMATVSEEAKD
X:129162802-129162802 C>A	0.0	4134	LUNG	-	-	-	1	BCORL1	ENST00000303743,p.T1424N|uc004evc.2,p.T186N|ENST00000456822,p.T1024N	protein_coding, processed_transcript	uc004evc.2	nonsynonymous SNV	exon2	c.C557A	p.T186N	NSEKPSGKRKCKTKHMATVSEEAKG	NSEKPSGKRKCKNKHMATVSEEAKG	4.0	2.0	unscreened	-	4134_X:129162802-129162802 C>A_NSEKPSGKRKCKNKHMATVSEEAKG
22:26695112-26695112 G>T	0.0	4134	LUNG	-	-	-	-	SEZ6L	ENST00000402979,p.S215I|ENST00000529632,p.S442I|NM_021115,p.S442I|ENST00000343706,p.S442I|ENST00000248933,p.S442I|ENST00000403121,p.S215I|uc011akc.2,p.S442I|uc003acd.3,p.S442I|uc003acb.3,p.S442I|uc003ace.3,p.S442I|NM_001184774,p.S442I|NM_001184776,p.S442I|uc011akd.2,p.S442I|ENST00000404234,p.S442I|NM_001184775,p.S442I|uc003acf.1,p.S215I|uc010gvc.1,p.S215I|ENST00000360929,p.S442I|uc003acc.3,p.S442I|NM_001184777,p.S442I|NM_001184773,p.S442I	retained_intron, protein_coding, processed_transcript	uc011akd.2	nonsynonymous SNV	exon5	c.G1325T	p.S442I	MLTCINASKPHWSSQEPICSAPCGG	MLTCINASKPHWISQEPICSAPCGG	1.0	8.0	unscreened	-	4134_22:26695112-26695112 G>T_MLTCINASKPHWISQEPICSAPCGG
11:5221914-5221914 C>A	0.0	4134	LUNG	-	-	ID=COSM283574;OCCURENCE=1(large_intestine)	-	OR51V1	ENST00000321255,p.R6I|uc010qyz.2,p.R6I|NM_001004760,p.R6I	protein_coding	uc010qyz.2	nonsynonymous SNV	exon1	c.G17T	p.R6I	MFLSSRMITSVSPSTSTN	MFLSSIMITSVSPSTSTN	1.0	8.0	unscreened	-	4134_11:5221914-5221914 C>A_MFLSSIMITSVSPSTSTN
11:56127948-56127948 G>A	0.0	4134	LUNG	-	-	-	-	OR8J1	uc010rjh.2,p.V76I|NM_001005205,p.V76I|ENST00000303039,p.V76I	protein_coding	uc010rjh.2	nonsynonymous SNV	exon1	c.G226A	p.V76I	QHLALINLGNSTVIAPKMLINFLVK	QHLALINLGNSTIIAPKMLINFLVK	1.0	3.0	unscreened	-	4134_11:56127948-56127948 G>A_QHLALINLGNSTIIAPKMLINFLVK
10:128936259-128936259 C>T	0.0	4134	LUNG	-	-	-	-	FAM196A	ENST00000424811,p.E404K|uc009yap.1,p.E404K|uc010quo.1,p.E404K	protein_coding	uc010quo.1	nonsynonymous SNV	exon3	c.G1210A	p.E404K	HREGVELDFKQQEDKLQPVLRKLHP	HREGVELDFKQQKDKLQPVLRKLHP	1.0	5.0	unscreened	-	4134_10:128936259-128936259 C>T_HREGVELDFKQQKDKLQPVLRKLHP
4:71508881-71508881 C>G	0.0	4134	LUNG	-	-	-	-	ENAM	uc011caw.1,p.P580A|ENST00000396073,p.P580A|NM_031889,p.P580A	retained_intron, protein_coding, processed_transcript	uc011caw.1	nonsynonymous SNV	exon9	c.C1738G	p.P580A	DHQEISPPFKEDPGRQEEHLPHPSH	DHQEISPPFKEDAGRQEEHLPHPSH	1.0	8.0	unscreened	-	4134_4:71508881-71508881 C>G_DHQEISPPFKEDAGRQEEHLPHPSH
6:32163720-32163720 C>T	0.0	4134	LUNG	-	-	-	-	NOTCH4	ENST00000375023,p.E1836K|NM_004557,p.E1836K|uc003obb.3,p.E1836K|uc003oba.3,p.E496K	retained_intron, protein_coding, processed_transcript	uc003obb.3	nonsynonymous SNV	exon30	c.G5506A	p.E1836K	PPEARHKATPGREAGPFPRARTVSV	PPEARHKATPGRKAGPFPRARTVSV	5.0	6.0	unscreened	-	4134_6:32163720-32163720 C>T_PPEARHKATPGRKAGPFPRARTVSV
6:90660535-90660535 G>T	0.0	4134	LUNG	-	-	-	-	BACH2	uc011eab.2,p.S430R|ENST00000343122,p.S430R|NM_021813,p.S430R|NM_001170794,p.S430R|ENST00000257749,p.S430R|uc003pnw.3,p.S430R|uc010kch.3,p.S430R|ENST00000537989,p.S430R	protein_coding, processed_transcript	uc011eab.2	nonsynonymous SNV	exon7	c.C1290A	p.S430R	ALCKQEGELDRRSVIFSSSACDQVS	ALCKQEGELDRRRVIFSSSACDQVS	4.0	4.0	unscreened	-	4134_6:90660535-90660535 G>T_ALCKQEGELDRRRVIFSSSACDQVS
12:8212190-8212190 C>G	0.0	4134	LUNG	-	-	-	-	C3AR1	ENST00000307637,p.E198Q|uc021quj.1,p.E198Q|uc001qtv.1,p.E198Q|NM_004054,p.E198Q	protein_coding	uc021quj.1	nonsynonymous SNV	exon1	c.G592C	p.E198Q	DFYGDPLENRSLENIVQPPGEMNDR	DFYGDPLENRSLQNIVQPPGEMNDR	7.0	3.0	-	-	4134_12:8212190-8212190 C>G_DFYGDPLENRSLQNIVQPPGEMNDR
7:100463923-100463923 C>T	0.0	4134	LUNG	-	-	-	-	SLC12A9	uc011kki.2,p.A345V|ENST00000354161,p.A814V|uc003uwp.4,p.A814V|uc003uwr.3,p.A550V|uc003uwv.3,p.A345V|uc003uws.3,p.A345V|uc003uwt.3,p.A550V|NM_020246,p.A814V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kki.2	nonsynonymous SNV	exon9	c.C1034T	p.A345V	VWGEGAGAGEPEAEEEGDFVNSGRG	VWGEGAGAGEPEVEEEGDFVNSGRG	6.0	7.0	unscreened	-	4134_7:100463923-100463923 C>T_VWGEGAGAGEPEVEEEGDFVNSGRG
10:74684003-74684003 T>C	0.0	4134	LUNG	-	-	-	-	OIT3	ENST00000334011,p.I323T|NM_152635,p.I323T|uc001jte.1,p.I323T	protein_coding	uc001jte.1	nonsynonymous SNV	exon7	c.T968C	p.I323T	TCGTVVDVVNDKIVASNLVTGLPKQ	TCGTVVDVVNDKTVASNLVTGLPKQ	1.0	4.0	unscreened	-	4134_10:74684003-74684003 T>C_TCGTVVDVVNDKTVASNLVTGLPKQ
8:95161017-95161017 C>T	0.0	4134	LUNG	-	-	-	2	CDH17	ENST00000450165,p.E628K|ENST00000441892,p.E414K|NM_001144663,p.E628K|NM_004063,p.E628K|uc003ygh.2,p.E628K|uc011lgo.1,p.E414K|uc011lgp.1,p.E628K|ENST00000027335,p.E628K	protein_coding, nonsense_mediated_decay	uc011lgp.1	nonsynonymous SNV	exon14	c.G1882A	p.E628K	TGEIFSVAPLDREAGSPYRVQVVAT	TGEIFSVAPLDRKAGSPYRVQVVAT	1.0	7.0	unscreened	-	4134_8:95161017-95161017 C>T_TGEIFSVAPLDRKAGSPYRVQVVAT
2:238449078-238449078 G>A	1.0	4134	LUNG	-	-	-	-	MLPH	uc002vwu.3,p.D370N|NM_001281474,p.D255N|uc010fyt.1,p.D370N|ENST00000437893,p.D158N|uc002vwv.3,p.D330N|NM_024101,p.D398N|ENST00000264605,p.D398N|ENST00000445024,p.D398N|ENST00000410032,p.D255N|ENST00000409373,p.D330N|uc002vww.3,p.D346N|uc002vwt.3,p.D398N|ENST00000338530,p.D370N|uc002vwx.3,p.D254N|uc002vws.3,p.D255N|NM_001042467,p.D370N|NM_001281473,p.D330N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fyt.1	nonsynonymous SNV	exon9	c.G1108A	p.D370N	RRKLEELTSNVSDQETSSEEEEAKD	RRKLEELTSNVSNQETSSEEEEAKD	10.0	4.0	-	-	4134_2:238449078-238449078 G>A_RRKLEELTSNVSNQETSSEEEEAKD
2:141215217-141215217 G>T	0.0	4134	LUNG	-	-	-	1	LRP1B	NM_018557,p.P3210H|uc002tvj.1,p.P3210H|ENST00000389484,p.P3210H	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon61	c.C9629A	p.P3210H	FSNMDGSHRHKVPNQDIPGVIALTL	FSNMDGSHRHKVHNQDIPGVIALTL	1.0	7.0	unscreened	-	4134_2:141215217-141215217 G>T_FSNMDGSHRHKVHNQDIPGVIALTL
3:57432303-57432303 G>C	0.0	4134	LUNG	-	-	-	-	DNAH12	uc003dit.2,p.F1277L|ENST00000351747,p.F1277L|ENST00000495027,p.F1300L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003dit.2	nonsynonymous SNV	exon26	c.C3831G	p.F1277L	DLAKALAVQCVVFNCSDGLDYLAMG	DLAKALAVQCVVLNCSDGLDYLAMG	1.0	5.0	unscreened	-	4134_3:57432303-57432303 G>C_DLAKALAVQCVVLNCSDGLDYLAMG
10:128936259-128936259 C>T	0.0	4134	LUNG	-	-	-	-	FAM196A	uc001ljv.1,p.E428K|uc001lju.1,p.E428K|ENST00000522781,p.E428K|NM_001039762,p.E428K	protein_coding	uc001ljv.1	nonsynonymous SNV	exon6	c.G1282A	p.E428K	IIYSVELDFKQQEDKLQPVLRKLHP	IIYSVELDFKQQKDKLQPVLRKLHP	1.0	5.0	unscreened	-	4134_10:128936259-128936259 C>T_IIYSVELDFKQQKDKLQPVLRKLHP
9:104433287-104433287 T>G	0.0	4134	LUNG	-	-	-	-	GRIN3A	uc004bbp.2,p.Q469H|uc004bbq.1,p.Q469H|ENST00000361820,p.Q469H|NM_133445,p.Q469H	protein_coding, processed_transcript	uc004bbq.1	nonsynonymous SNV	exon3	c.A1407C	p.Q469H	VSSENNFFIWNLQHDPMGKPMWTRL	VSSENNFFIWNLHHDPMGKPMWTRL	2.0	5.0	unscreened	-	4134_9:104433287-104433287 T>G_VSSENNFFIWNLHHDPMGKPMWTRL
8:124382135-124382135 C>G	1.0	4134	LUNG	-	-	-	-	ATAD2	ENST00000287394,p.G286A|uc003yqj.3,p.G286A|uc003yqh.4,p.G286A|NM_014109,p.G286A|uc011lii.2,p.G77A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lii.2	nonsynonymous SNV	exon7	c.G230C	p.G77A	DDDDEDDEDEEDGEEENQKRYYLRQ	DDDDEDDEDEEDAEEENQKRYYLRQ	7.0	6.0	-	-	4134_8:124382135-124382135 C>G_DDDDEDDEDEEDAEEENQKRYYLRQ
8:39626994-39626994 A>C	0.0	4134	LUNG	-	-	-	-	ADAM2	uc003xnl.4,p.L251V|NM_001464,p.L377V|uc003xnj.4,p.L377V|ENST00000347580,p.L358V|ENST00000521880,p.L377V|uc011lck.3,p.L377V|NM_001278113,p.L358V|ENST00000265708,p.L377V|NM_001278114,p.L377V|ENST00000379853,p.L251V|uc003xnk.4,p.L358V	protein_coding, processed_transcript	uc011lck.3	nonsynonymous SNV	exon12	c.T1129G	p.L377V	KQKSQCLHNQPRLDPFFKQQAVCGN	KQKSQCLHNQPRVDPFFKQQAVCGN	1.0	5.0	unscreened	-	4134_8:39626994-39626994 A>C_KQKSQCLHNQPRVDPFFKQQAVCGN
7:100189332-100189332 G>A	0.0	4134	LUNG	-	-	-	-	FBXO24	ENST00000468962,p.R110Q|ENST00000466053,p.R127Q|ENST00000360609,p.R108Q|NM_001163499,p.R110Q|uc011kka.1,p.R110Q|NM_033506,p.R122Q|ENST00000427939,p.R160Q|ENST00000241071,p.R122Q|uc003uvl.1,p.R108Q|NM_012172,p.R160Q|ENST00000465843,p.R108Q|uc011kjz.1,p.R160Q|uc003uvm.1,p.R122Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kka.1	nonsynonymous SNV	exon4	c.G329A	p.R110Q	KGLYFQAFGGRRRCLSKSVAPLLAH	KGLYFQAFGGRRQCLSKSVAPLLAH	3.0	7.0	unscreened	-	4134_7:100189332-100189332 G>A_KGLYFQAFGGRRQCLSKSVAPLLAH
5:157053381-157053381 C>G	0.0	4134	LUNG	-	-	-	-	SOX30	NM_178424,p.E743D|ENST00000265007,p.E743D|ENST00000519442,p.E438D|uc003lxb.1,p.E743D|uc011dds.1,p.E438D	protein_coding	uc011dds.1	nonsynonymous SNV	exon6	c.G1314C	p.E438D	SSIQQVNVTDSDEEEEEKVLRDL	SSIQQVNVTDSDDEEEEKVLRDL	1.0	7.0	unscreened	-	4134_5:157053381-157053381 C>G_SSIQQVNVTDSDDEEEEKVLRDL
2:141751580-141751580 C>G	0.0	4134	LUNG	-	-	-	1	LRP1B	NM_018557,p.E876D|ENST00000389484,p.E876D|uc002tvj.1,p.E876D	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon16	c.G2628C	p.E876D	CDGDDDCLDGSDEDSVNCFNHSCPD	CDGDDDCLDGSDDDSVNCFNHSCPD	1.0	3.0	unscreened	-	4134_2:141751580-141751580 C>G_CDGDDDCLDGSDDDSVNCFNHSCPD
19:31768711-31768711 C>T	0.0	4134	LUNG	-	-	-	-	TSHZ3	NM_020856,p.G663D|ENST00000240587,p.G663D|uc002nsy.4,p.G663D	protein_coding, processed_transcript	uc002nsy.4	nonsynonymous SNV	exon2	c.G1988A	p.G663D	GEPIKMEASSDGGFRSQENSPSPPR	GEPIKMEASSDGDFRSQENSPSPPR	5.0	5.0	unscreened	-	4134_19:31768711-31768711 C>T_GEPIKMEASSDGDFRSQENSPSPPR
1:247695103-247695103 C>A	0.0	4134	LUNG	-	-	-	-	OR2C3	uc009xgy.3,p.K237N|uc021pmb.1,p.K237N|ENST00000366487,p.K237N|NM_198074,p.K237N	protein_coding	uc021pmb.1	nonsynonymous SNV	exon1	c.G711T	p.K237N	AVLKIRSAEGRRKAFNTCSSHVAVV	AVLKIRSAEGRRNAFNTCSSHVAVV	1.0	6.0	unscreened	-	4134_1:247695103-247695103 C>A_AVLKIRSAEGRRNAFNTCSSHVAVV
3:195250513-195250513 C>G	1.0	4134	LUNG	-	-	-	-	PPP1R2	NM_001291505,p.S101T|uc003fup.3,p.S127T|NM_006241,p.S127T|ENST00000438848,p.S101T|ENST00000328432,p.S127T	retained_intron, protein_coding, nonsense_mediated_decay	uc003fup.3	nonsynonymous SNV	exon4	c.G380C	p.S127T	RIQEQESSGEEDSDLSPEEREKKRQ	RIQEQESSGEEDTDLSPEEREKKRQ	9.0	4.0	-	-	4134_3:195250513-195250513 C>G_RIQEQESSGEEDTDLSPEEREKKRQ
3:195250513-195250513 C>G	1.0	4134	LUNG	-	-	-	-	PPP1R2	NM_001291504,p.S127T	retained_intron, protein_coding, nonsense_mediated_decay	NM_001291504	nonsynonymous SNV	exon4	c.G380C	p.S127T	RIQEQESSGEEDSDLSPEERGKKKR	RIQEQESSGEEDTDLSPEERGKKKR	9.0	4.0	-	-	4134_3:195250513-195250513 C>G_RIQEQESSGEEDTDLSPEERGKKKR
14:24653026-24653026 C>T	1.0	4134	LUNG	-	-	-	-	IPO4	ENST00000354464,p.E650K|uc001wmz.2,p.E650K|uc001wmt.1,p.E128K|uc001wmv.1,p.E650K|uc001wmu.2,p.E312K|NM_024658,p.E650K|ENST00000560155,p.E650K|uc001wmy.1,p.E514K|uc001wmx.1,p.E514K	retained_intron, protein_coding, nonsense_mediated_decay	uc001wmz.2	nonsynonymous SNV	exon20	c.G1948A	p.E650K	ESDGEEEEELMDEDVEEEDDSEISG	ESDGEEEEELMDKDVEEEDDSEISG	8.0	6.0	-	-	4134_14:24653026-24653026 C>T_ESDGEEEEELMDKDVEEEDDSEISG
20:1559024-1559025 CA>-	0.0	4134	LUNG	-	-	-	-	SIRPB1	NM_006065,p.V131fs|ENST00000381603,p.V131fs|ENST00000564763,p.V131fs|ENST00000567028,p.V130fs|uc002wfk.4,p.V131fs|NM_001083910,p.V131fs|uc010gai.3,p.V131fs|ENST00000381605,p.V131fs|ENST00000262929,p.V130fs|ENST00000563840,p.V130fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc010gai.3	frameshift deletion	exon2	c.392_393del	p.V131fs	YCVKFRKGSPDDVEFKSGAGTELSV	YCVKFRKGSPDDGV	4.0	6.0	unscreened	-	4134_20:1559024-1559025 CA>-_YCVKFRKGSPDDGV
8:124392895-124392902 ACTTCCTT>-	0.0	4134	LUNG	-	-	-	-	ATAD2	NM_014109,p.K63fs|uc003yqh.4,p.K63fs|uc003yqj.3,p.K63fs|ENST00000287394,p.K63fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yqj.3	frameshift deletion	exon2	c.187_194del	p.K63fs	ATTAKAGDGSSVKEVETYHRTRALR	ATTAKAGDGSSV	7.0	6.0	unscreened	-	4134_8:124392895-124392902 ACTTCCTT>-_ATTAKAGDGSSV
9:114199371-114199371 G>A	1.0	4136	BREAST	-	-	-	-	KIAA0368	ENST00000259335,p.S364F|uc004bfe.1,p.S364F|ENST00000602447,p.S192F|uc010muc.1,p.S186F|NM_001080398,p.S364F|ENST00000338205,p.S186F	protein_coding, processed_transcript	uc010muc.1	nonsynonymous SNV	exon7	c.C557T	p.S186F	VLLMPYGYVLNESQSRQNSSSAQGS	VLLMPYGYVLNEFQSRQNSSSAQGS	10.0	4.0	CD8	-	4136_9:114199371-114199371 G>A_VLLMPYGYVLNEFQSRQNSSSAQGS
7:121960313-121960313 C>T	1.0	4136	BREAST	-	-	ID=COSM3411530,COSM3411529;OCCURENCE=1(central_nervous_system)	-	CADPS2	ENST00000412584,p.R1225H|uc010lkq.3,p.R1225H|uc022akr.1,p.R1266H|ENST00000449022,p.R1266H|ENST00000313070,p.R1225H|uc003vkg.4,p.R920H|NM_001167940,p.R1270H|NM_001009571,p.R1225H|NM_017954,p.R1266H|ENST00000334010,p.R1264H	protein_coding, processed_transcript	uc022akr.1	nonsynonymous SNV	exon30	c.G3797A	p.R1266H	TLNSKTYDTVHRRLTVEEATASVSE	TLNSKTYDTVHRHLTVEEATASVSE	8.0	8.0	CD8	-	4136_7:121960313-121960313 C>T_TLNSKTYDTVHRHLTVEEATASVSE
17:7577032-7577032 C>-	1.0	4136	BREAST	-	-	ID=COSM45177;OCCURENCE=1(lung)	1	TP53	NM_001126113,p.G302fs|uc010cnf.2,p.G143fs|ENST00000455263,p.G302fs|uc010cnh.2,p.G302fs|NM_001276695,p.G263fs|NM_001276699,p.G143fs|NM_001126117,p.G170fs	retained_intron, protein_coding, processed_transcript	uc010cnh.2	frameshift deletion	exon8	c.906delG	p.G302fs	RKKGEPHHELPPGSTKRALPNNTSS	RKKGEPHHELPPGALSEHCPTTPAPLPSQRRNHWMENISPFRCYLTYDGVTS	9.0	10.0	unscreened	-	4136_17:7577032-7577032 C>-_RKKGEPHHELPPGALSEHCPTTPAPLPSQRRNHWMENISPFRCYLTYDGVTS
17:7577032-7577032 C>-	1.0	4136	BREAST	-	-	ID=COSM45177;OCCURENCE=1(lung)	1	TP53	uc010cni.2,p.G302fs|NM_001126114,p.G302fs|NM_001126116,p.G170fs|NM_001276696,p.G263fs|uc010cng.2,p.G143fs|ENST00000420246,p.G302fs|NM_001276698,p.G143fs	retained_intron, protein_coding, processed_transcript	uc010cni.2	frameshift deletion	exon8	c.906delG	p.G302fs	RKKGEPHHELPPGSTKRALPNNTSS	RKKGEPHHELPPGALSEHCPTTPAPLPSQRRNHWMENISPFRTRPAFKKKIV	9.0	10.0	unscreened	-	4136_17:7577032-7577032 C>-_RKKGEPHHELPPGALSEHCPTTPAPLPSQRRNHWMENISPFRTRPAFKKKIV
22:50315936-50315973 CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG>-	0.0	4136	BREAST	-	-	ID=COSM1416957;OCCURENCE=4(large_intestine)	-	CRELD2	uc010hal.2,p.V198fs|NM_001135101,p.V198fs|ENST00000404488,p.V198fs	retained_intron, protein_coding, processed_transcript	uc010hal.2	frameshift deletion	exon6	c.593_621del	p.V198fs	SSLRNETHSICTVRTGLSDSYPPCC	SSLRNETHSICTALLSVSWMLAWRGPRMDPWPEHAHPARLQLQSMDSCLLSSL	10.0	3.0	unscreened	-	4136_22:50315936-50315973 CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG>-_SSLRNETHSICTALLSVSWMLAWRGPRMDPWPEHAHPARLQLQSMDSCLLSSL
7:43635680-43635680 G>C	1.0	4136	BREAST	-	-	-	-	STK17A	NM_004760,p.E129D|uc003tih.3,p.E129D|ENST00000319357,p.E129D	retained_intron, protein_coding, processed_transcript	uc003tih.3	nonsynonymous SNV	exon2	c.G387C	p.E129D	DNPWVINLHEVYETASEMILVLEYA	DNPWVINLHEVYDTASEMILVLEYA	8.0	7.0	-	-	4136_7:43635680-43635680 G>C_DNPWVINLHEVYDTASEMILVLEYA
22:50315936-50315973 CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG>-	0.0	4136	BREAST	-	-	ID=COSM1416957;OCCURENCE=4(large_intestine)	-	CRELD2	uc031ryb.1,p.P86fs	retained_intron, protein_coding, processed_transcript	uc031ryb.1	frameshift deletion	exon6	c.257_294del	p.P86fs	IDSQDRPLRFLRPSAVRTGLSDSYP	IDSQDRPLRFLRPLLSVSWMLAWRGPRMDPWPEHAHPARLQLQSMDSCLLSSL	10.0	3.0	unscreened	-	4136_22:50315936-50315973 CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG>-_IDSQDRPLRFLRPLLSVSWMLAWRGPRMDPWPEHAHPARLQLQSMDSCLLSSL
12:110765611-110765611 A>G	1.0	4136	BREAST	-	-	-	-	ATP2A2	ENST00000395494,p.Y268C|ENST00000308664,p.Y295C|NM_170665,p.Y295C|uc021rdt.1,p.Y143C|uc001tql.4,p.Y295C|uc001tqk.4,p.Y295C|ENST00000539276,p.Y295C|NM_001681,p.Y295C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021rdt.1	nonsynonymous SNV	exon4	c.A428G	p.Y143C	VHGGSWIRGAIYYFKIAVALAVAAI	VHGGSWIRGAIYCFKIAVALAVAAI	9.0	8.0	-	-	4136_12:110765611-110765611 A>G_VHGGSWIRGAIYCFKIAVALAVAAI
17:7577032-7577032 C>-	1.0	4136	BREAST	-	-	ID=COSM45177;OCCURENCE=1(lung)	1	TP53	uc002gih.3,p.G302fs|ENST00000359597,p.G302fs	retained_intron, protein_coding, processed_transcript	uc002gih.3	frameshift deletion	exon7	c.906delG	p.G302fs	RKKGEPHHELPPGSTKRALPNNTSS	RKKGEPHHELPPGALSEHCPTTPAPLPSQRRNHWMENISPFRKHFRPGTVDHTC	9.0	10.0	unscreened	-	4136_17:7577032-7577032 C>-_RKKGEPHHELPPGALSEHCPTTPAPLPSQRRNHWMENISPFRKHFRPGTVDHTC
17:7577032-7577032 C>-	1.0	4136	BREAST	-	-	ID=COSM45177;OCCURENCE=1(lung)	1	TP53	uc002gim.3,p.G302fs|uc002gii.2,p.G143fs|NM_000546,p.G302fs|NM_001126115,p.G170fs|ENST00000269305,p.G302fs|uc002gij.3,p.G263fs|ENST00000445888,p.G302fs|NM_001126112,p.G302fs|uc031qyq.1,p.G263fs|NM_001276761,p.G263fs|NM_001276697,p.G143fs|NM_001126118,p.G263fs|NM_001276760,p.G263fs	retained_intron, protein_coding, processed_transcript	uc031qyq.1	frameshift deletion	exon7	c.789delG	p.G263fs	RKKGEPHHELPPGSTKRALPNNTSS	RKKGEPHHELPPGALSEHCPTTPAPLPSQRRNHWMENISPFRSVGVSASRCSES	9.0	10.0	unscreened	-	4136_17:7577032-7577032 C>-_RKKGEPHHELPPGALSEHCPTTPAPLPSQRRNHWMENISPFRSVGVSASRCSES
1:45125929-45125929 G>A	1.0	4136	BREAST	-	-	-	-	TMEM53	NM_001300747,p.R34W|uc001cmc.3,p.R34W|NM_024587,p.R34W|ENST00000372242,p.R34W|ENST00000420706,p.R34W|NM_001300748,p.R34W|ENST00000372237,p.R34W|ENST00000372235,p.R34W|ENST00000372243,p.R34W	protein_coding, processed_transcript	uc001cmc.3	nonsynonymous SNV	exon2	c.C100T	p.R34W	NSPSPGGKEAETRQPVVILLGWGGC	NSPSPGGKEAETWQPVVILLGWGGC	7.0	8.0	-	-	4136_1:45125929-45125929 G>A_NSPSPGGKEAETWQPVVILLGWGGC
7:150773376-150773380 GGATG>-	0.0	4136	BREAST	-	-	-	-	SLC4A2	uc011kvf.2,p.A22fs	retained_intron, protein_coding, processed_transcript	uc011kvf.2	frameshift deletion	exon1	c.65_69del	p.A22fs	PSRSSNTGSASLASSCVWGGGGQEG	PSRSSNTGSASLELCVGRWRSRREVGGPFQIHREARGTGGGRREGLHISSLGR	10.0	3.0	unscreened	-	4136_7:150773376-150773380 GGATG>-_PSRSSNTGSASLELCVGRWRSRREVGGPFQIHREARGTGGGRREGLHISSLGR
17:53844777-53844777 T>G	1.0	4136	BREAST	-	-	-	-	PCTP	uc002iul.4,p.S75A|ENST00000573500,p.S75A|NM_021213,p.S75A|ENST00000576183,p.S75A|ENST00000268896,p.S75A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002iul.4	nonsynonymous SNV	exon2	c.T223G	p.S75A	CSPTLLADIYMDSDYRKQWDQYVKE	CSPTLLADIYMDADYRKQWDQYVKE	9.0	5.0	-	-	4136_17:53844777-53844777 T>G_CSPTLLADIYMDADYRKQWDQYVKE
15:41797669-41797669 C>T	1.0	4136	BREAST	0.0005	-	-	-	LTK	NM_206961,p.R525H|uc010ucx.1,p.R456H|uc001zob.3,p.R525H|ENST00000453182,p.R456H|ENST00000355166,p.R525H|NM_001135685,p.R456H|ENST00000561619,p.R284H|ENST00000263800,p.R586H|uc001zoa.3,p.R586H|uc010bcg.2,p.R284H|NM_002344,p.R586H	retained_intron, protein_coding	uc010ucx.1	nonsynonymous SNV	exon12	c.G1367A	p.R456H	VRCVGLSLRATPRLILLELMSGGDM	VRCVGLSLRATPHLILLELMSGGDM	5.0	10.0	-	-	4136_15:41797669-41797669 C>T_VRCVGLSLRATPHLILLELMSGGDM
15:56435059-56435059 C>T	0.0	4136	BREAST	-	-	-	-	RFX7	uc010bfn.3,p.M106I|ENST00000423270,p.M106I|ENST00000317318,p.M106I|NM_022841,p.M106I	protein_coding, nonsense_mediated_decay	uc010bfn.3	nonsynonymous SNV	exon4	c.G318A	p.M106I	DQNAMSSSRAQQMHAFSWIRNTLEE	DQNAMSSSRAQQIHAFSWIRNTLEE	6.0	1.0	unscreened	-	4136_15:56435059-56435059 C>T_DQNAMSSSRAQQIHAFSWIRNTLEE
16:89999935-89999935 G>A	1.0	4136	BREAST	-	-	-	-	TUBB3	ENST00000555576,p.V76I|uc002fph.2,p.V76I|NM_006086,p.V76I|uc002fpf.2,p.V423I|ENST00000553967,p.V76I|ENST00000554336,p.V76I|ENST00000556536,p.V76I|ENST00000315491,p.V76I|ENST00000556922,p.V423I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002fph.2	nonsynonymous SNV	exon3	c.G226A	p.V76I	ILVDLEPGTMDSVRSGAFGHLFRPD	ILVDLEPGTMDSIRSGAFGHLFRPD	7.0	9.0	-	-	4136_16:89999935-89999935 G>A_ILVDLEPGTMDSIRSGAFGHLFRPD
22:18291694-18291694 G>A	0.0	4136	BREAST	-	-	-	-	MICAL3	ENST00000579997,p.R111W|uc011agl.2,p.R1772W|NM_015241,p.R1856W|ENST00000441493,p.R1856W|uc002zng.4,p.R1856W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011agl.2	nonsynonymous SNV	exon26	c.C5314T	p.R1772W	ELKRLHRAQIIQRQLQQVEERQRRL	ELKRLHRAQIIQWQLQQVEERQRRL	6.0	4.0	unscreened	-	4136_22:18291694-18291694 G>A_ELKRLHRAQIIQWQLQQVEERQRRL
7:150773383-150773393 AACGAGGCAGA>-	0.0	4136	BREAST	-	-	-	-	SLC4A2	uc011kvf.2,p.S18fs	retained_intron, protein_coding, processed_transcript	uc011kvf.2	frameshift deletion	exon1	c.52_62del	p.S18fs	YSSTPSRSSNTGSASLASSCVWGGG	YSSTPSRSSNTGSIQLCVGRWRSRREVGGPFQIHREARGTGGGRREGLHISSLGR	10.0	3.0	unscreened	-	4136_7:150773383-150773393 AACGAGGCAGA>-_YSSTPSRSSNTGSIQLCVGRWRSRREVGGPFQIHREARGTGGGRREGLHISSLGR
19:10463761-10463761 ->GATAGGCCAT	0.0	4136	BREAST	-	-	-	-	TYK2	ENST00000525621,p.L1014fs|NM_003331,p.L1014fs|uc010dxe.3,p.L829fs|uc002moc.4,p.L1014fs|ENST00000529739,p.L37fs|ENST00000524462,p.L829fs|ENST00000264818,p.L1014fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dxe.3	frameshift insertion	exon18	c.2485_2486insATGGCCTATC	p.L829fs	LFAQQICEGMAYLHAQHYIHRDLAA	LFAQQICEGMAYHGLSARAALHPPRPSRAQRAAGQRQAGQDRGLWPSQGRARRPRVLPRARGWGQPRVLVCPRVPEGV	9.0	1.0	unscreened	-	4136_19:10463761-10463761 ->GATAGGCCAT_LFAQQICEGMAYHGLSARAALHPPRPSRAQRAAGQRQAGQDRGLWPSQGRARRPRVLPRARGWGQPRVLVCPRVPEGV
4:153273859-153273859 C>A	0.0	4136	BREAST	-	-	-	1	FBXW7	NM_018315,p.L8F|uc003imq.3,p.L8F|ENST00000263981,p.L8F	protein_coding	uc003imq.3	nonsynonymous SNV	exon1	c.G24T	p.L8F	MCVPRSGLILSCICLYCGVL	MCVPRSGFILSCICLYCGVL	8.0	9.0	unscreened	-	4136_4:153273859-153273859 C>A_MCVPRSGFILSCICLYCGVL
11:62639124-62639124 A>C	1.0	4136	BREAST	-	-	-	-	SLC3A2	ENST00000377890,p.K94T|ENST00000535296,p.K63T|uc001nwd.3,p.K94T|NM_002394,p.K94T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001nwd.3	nonsynonymous SNV	exon3	c.A281C	p.K94T	LLASSDPPALASKNAEVTGTMSQDT	LLASSDPPALASTNAEVTGTMSQDT	10.0	7.0	-	-	4136_11:62639124-62639124 A>C_LLASSDPPALASTNAEVTGTMSQDT
3:45963271-45963271 T>G	1.0	4136	BREAST	-	-	-	-	FYCO1	uc003cpb.5,p.S1475R|ENST00000535325,p.S1495R|ENST00000438446,p.S146R|ENST00000296137,p.S1475R|NM_024513,p.S1475R|uc011bal.1,p.S1495R	retained_intron, protein_coding	uc011bal.1	nonsynonymous SNV	exon18	c.A4483C	p.S1495R	HLTVDRPVIYDGSDFL	HLTVDRPVIYDGRDFL	7.0	6.0	-	-	4136_3:45963271-45963271 T>G_HLTVDRPVIYDGRDFL
6:129786331-129786334 AGTC>-	0.0	4136	BREAST	-	-	-	-	LAMA2	uc021zfb.1,p.K2399fs|uc003qbn.3,p.K2397fs|ENST00000421865,p.K2399fs|NM_000426,p.K2399fs|uc003qbo.3,p.K2397fs|NM_001079823,p.K2399fs	protein_coding, processed_transcript	uc021zfb.1	frameshift deletion	exon51	c.7197_7200del	p.K2399fs	DFMSVELTDGHIKVSYDLGSGMASV	DFMSVELTDGHIKVTIWAQEWLPLSAIKTIMMGNGNHSLCQEFKNKPIYQL	1.0	10.0	unscreened	-	4136_6:129786331-129786334 AGTC>-_DFMSVELTDGHIKVTIWAQEWLPLSAIKTIMMGNGNHSLCQEFKNKPIYQL
7:43635591-43635591 G>C	1.0	4136	BREAST	-	-	-	-	STK17A	uc003tih.3,p.D100H|NM_004760,p.D100H|ENST00000319357,p.D100H	retained_intron, protein_coding, processed_transcript	uc003tih.3	nonsynonymous SNV	exon2	c.G298C	p.D100H	AAKFMRKRRKGQDCRMEIIHEIAVL	AAKFMRKRRKGQHCRMEIIHEIAVL	8.0	7.0	-	-	4136_7:43635591-43635591 G>C_AAKFMRKRRKGQHCRMEIIHEIAVL
3:49726094-49726094 G>T	0.0	4136	BREAST	-	-	-	-	MST1	uc011bct.1,p.P11T|ENST00000449682,p.P11T|uc011bcs.1,p.P11T|uc003cxg.3,p.P11T|NM_020998,p.P11T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bct.1	nonsynonymous SNV	exon1	c.C31A	p.P11T	MGLWWVTVQPPARRMGWLPLLLL	MGLWWVTVQPTARRMGWLPLLLL	7.0	5.0	unscreened	-	4136_3:49726094-49726094 G>T_MGLWWVTVQPTARRMGWLPLLLL
11:62639124-62639124 A>C	1.0	4136	BREAST	-	-	-	-	SLC3A2	ENST00000377891,p.K63T|uc001nwc.3,p.K63T|NM_001012662,p.K63T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001nwc.3	nonsynonymous SNV	exon2	c.A188C	p.K63T	LLASSDPPALASKNAEVTVETGFHH	LLASSDPPALASTNAEVTVETGFHH	10.0	7.0	-	-	4136_11:62639124-62639124 A>C_LLASSDPPALASTNAEVTVETGFHH
16:2867911-2867911 C>G	0.0	4136	BREAST	-	-	-	-	PRSS21	uc002crr.4,p.C67W|uc002crt.4,p.C67W|ENST00000005995,p.C67W|NM_006799,p.C67W|uc002crs.4,p.C67W|ENST00000450020,p.C67W|NM_144957,p.C67W|uc031qus.1,p.C67W|NM_144956,p.C67W|NM_001270452,p.C67W|ENST00000455114,p.C67W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qus.1	nonsynonymous SNV	exon3	c.C201G	p.C67W	WQGSLRLWDSHVCGVSLLSHRWALT	WQGSLRLWDSHVWGVSLLSHRWALT	3.0	5.0	unscreened	-	4136_16:2867911-2867911 C>G_WQGSLRLWDSHVWGVSLLSHRWALT
3:49725021-49725021 C>T	1.0	4136	BREAST	-	-	-	-	MST1	ENST00000545762,p.R94H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000545762	nonsynonymous SNV	exon3	c.G281A	p.R94H	PWTQHSPHTRLRRSGRCDLFQKKGT	PWTQHSPHTRLRHSGRCDLFQKKGT	7.0	2.0	-	-	4136_3:49725021-49725021 C>T_PWTQHSPHTRLRHSGRCDLFQKKGT
3:49725021-49725021 C>T	1.0	4136	BREAST	-	-	-	-	MST1	uc011bct.1,p.R108H|ENST00000383728,p.R33H|uc011bcs.1,p.R108H|uc003cxg.3,p.R108H|NM_020998,p.R108H|ENST00000449682,p.R108H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bct.1	nonsynonymous SNV	exon3	c.G323A	p.R108H	PWTQHSPHTRLRRSGRCDLFQKKDY	PWTQHSPHTRLRHSGRCDLFQKKDY	7.0	2.0	-	-	4136_3:49725021-49725021 C>T_PWTQHSPHTRLRHSGRCDLFQKKDY
8:11704642-11704642 C>G	1.0	4136	BREAST	-	-	-	-	CTSB	NM_001908,p.D238H|ENST00000530640,p.D238H|uc010lsc.3,p.D114H|ENST00000531089,p.D238H|uc003wum.3,p.D238H|uc003wup.3,p.D238H|NM_147781,p.D238H|ENST00000353047,p.D238H|ENST00000533455,p.D238H|ENST00000434271,p.D238H|ENST00000534510,p.D238H|uc003wuo.3,p.D238H|NM_147780,p.D238H|uc003wun.3,p.D238H|uc003wuq.3,p.D238H|uc003wuu.3,p.D94H|uc003wul.3,p.D175H|NM_147783,p.D238H|ENST00000453527,p.D238H|NM_147782,p.D238H|uc011kxl.2,p.D159H|ENST00000345125,p.D238H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kxl.2	nonsynonymous SNV	exon6	c.G475C	p.D159H	GYNSYSVSNSEKDIMAEIYKNGPVE	GYNSYSVSNSEKHIMAEIYKNGPVE	10.0	6.0	-	-	4136_8:11704642-11704642 C>G_GYNSYSVSNSEKHIMAEIYKNGPVE
2:232320334-232320334 A>C	0.0	4136	BREAST	-	-	-	-	NCL	ENST00000322723,p.F612V|uc002vru.3,p.F612V|NM_005381,p.F612V|ENST00000356936,p.F237V	retained_intron, protein_coding	uc002vru.3	nonsynonymous SNV	exon13	c.T1834G	p.F612V	IVTDRETGSSKGFGFVDFNSEEDAK	IVTDRETGSSKGVGFVDFNSEEDAK	10.0	3.0	unscreened	-	4136_2:232320334-232320334 A>C_IVTDRETGSSKGVGFVDFNSEEDAK
7:20778616-20778616 G>A	0.0	4136	BREAST	-	-	-	-	ABCB5	uc010kuh.3,p.A960T|uc003suw.4,p.A515T|ENST00000404938,p.A960T|NM_178559,p.A515T|ENST00000258738,p.A515T|NM_001163941,p.A960T|ENST00000441315,p.A127T	protein_coding, processed_transcript, nonsense_mediated_decay	uc010kuh.3	nonsynonymous SNV	exon24	c.G2878A	p.A960T	RMTPEGMFIVFTAIAYGAMAIGETL	RMTPEGMFIVFTTIAYGAMAIGETL	1.0	5.0	unscreened	-	4136_7:20778616-20778616 G>A_RMTPEGMFIVFTTIAYGAMAIGETL
12:63543945-63543945 G>-	0.0	4136	BREAST	-	-	-	-	AVPR1A	uc001sro.2,p.I224fs|NM_000706,p.I224fs|ENST00000299178,p.I224fs	protein_coding	uc001sro.2	frameshift deletion	exon1	c.672delC	p.I224fs	GSRAYVTWMTGGIFVAPVVILGTCY	GSRAYVTWMTGGILWRPWSSWVPATASSATTSGATSAGRRRRARARVQSKRVWPSKRGSCSHPVSAA	4.0	1.0	unscreened	-	4136_12:63543945-63543945 G>-_GSRAYVTWMTGGILWRPWSSWVPATASSATTSGATSAGRRRRARARVQSKRVWPSKRGSCSHPVSAA
11:55406654-55406654 C>A	0.0	4136	BREAST	-	-	-	-	OR4P4	NM_001004124,p.T274N|uc010rij.2,p.T274N|ENST00000314612,p.T274N	protein_coding	uc010rij.2	nonsynonymous SNV	exon1	c.C821A	p.T274N	TFSEDKVFALFYTIIAPMFNPLIYT	TFSEDKVFALFYNIIAPMFNPLIYT	1.0	10.0	unscreened	-	4136_11:55406654-55406654 C>A_TFSEDKVFALFYNIIAPMFNPLIYT
2:176957641-176957641 ->CATG	0.0	4136	BREAST	-	-	-	1	HOXD13	ENST00000392539,p.D8fs|uc002ukf.1,p.D8fs|NM_000523,p.D8fs	protein_coding	uc002ukf.1	frameshift insertion	exon1	c.23_24insCATG	p.D8fs	MSRAGSWDMDGLRADGGGAG	MSRAGSWDMHGRAAGRRRGRRWRPGLFLLLIGGGGGGVRPVPRLSLRACVRRDAFGAGGGGGSGGCGGGGGSLRLCVPRDL	3.0	9.0	unscreened	-	4136_2:176957641-176957641 ->CATG_MSRAGSWDMHGRAAGRRRGRRWRPGLFLLLIGGGGGGVRPVPRLSLRACVRRDAFGAGGGGGSGGCGGGGGSLRLCVPRDL
11:62639124-62639124 A>C	1.0	4136	BREAST	-	-	-	-	SLC3A2	ENST00000377892,p.K94T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000377892	nonsynonymous SNV	exon3	c.A281C	p.K94T	LLASSDPPALASKNAEVTETGFHHV	LLASSDPPALASTNAEVTETGFHHV	10.0	7.0	-	-	4136_11:62639124-62639124 A>C_LLASSDPPALASTNAEVTETGFHHV
3:49725021-49725021 C>T	1.0	4136	BREAST	-	-	-	-	MST1	uc010hkx.2,p.V19I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hkx.2	nonsynonymous SNV	exon3	c.G55A	p.V19I	HGLNTRPTRGCGVLGAVTSSRRKPK	HGLNTRPTRGCGILGAVTSSRRKPK	7.0	2.0	-	-	4136_3:49725021-49725021 C>T_HGLNTRPTRGCGILGAVTSSRRKPK
16:20482486-20482486 A>G	0.0	4136	BREAST	-	-	-	-	ACSM2A	ENST00000573854,p.M230V|uc002dhg.4,p.M230V|uc010vay.2,p.M151V|ENST00000219054,p.M230V|ENST00000417235,p.M151V|ENST00000575690,p.M230V|uc010bwe.3,p.M230V|uc010vax.1,p.M151V|uc002dhf.4,p.M230V|NM_001010845,p.M230V|ENST00000396104,p.M230V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vay.2	nonsynonymous SNV	exon4	c.A451G	p.M151V	IYFTSGTSGLPKMAEHSYSSLGLKA	IYFTSGTSGLPKVAEHSYSSLGLKA	2.0	8.0	unscreened	-	4136_16:20482486-20482486 A>G_IYFTSGTSGLPKVAEHSYSSLGLKA
10:129903511-129903511 T>A	0.0	4136	BREAST	-	-	-	-	MKI67	ENST00000368653,p.K1838I|uc001lkf.3,p.K1838I|uc001lke.3,p.K2198I|uc009yaw.1,p.K1348I|NM_002417,p.K2198I|ENST00000368654,p.K2198I|NM_001145966,p.K1838I|uc009yav.1,p.K1773I	protein_coding, processed_transcript	uc009yaw.1	nonsynonymous SNV	exon2	c.A4043T	p.K1348I	GKAQPLEDLAGLKELFQTPICTDKP	GKAQPLEDLAGLIELFQTPICTDKP	7.0	2.0	unscreened	-	4136_10:129903511-129903511 T>A_GKAQPLEDLAGLIELFQTPICTDKP
12:58191714-58191714 A>T	0.0	4136	BREAST	-	-	-	-	AVIL	ENST00000257861,p.L804Q|ENST00000537081,p.L797Q|uc001sqj.2,p.L804Q|uc009zqe.2,p.L797Q|NM_006576,p.L804Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zqe.2	nonsynonymous SNV	exon20	c.T2390A	p.L797Q	SVFGITRGQFAALPGWKQLQMKKEK	SVFGITRGQFAAQPGWKQLQMKKEK	4.0	8.0	unscreened	-	4136_12:58191714-58191714 A>T_SVFGITRGQFAAQPGWKQLQMKKEK
17:2206936-2206936 C>G	0.0	4136	BREAST	-	-	-	-	SMG6	ENST00000263073,p.G27R|NM_017575,p.G27R|uc002fub.1,p.G27R	retained_intron, protein_coding, processed_transcript	uc002fub.1	nonsynonymous SNV	exon1	c.G79C	p.G27R	LRGILATLAPQAGSRENMKELKEAR	LRGILATLAPQARSRENMKELKEAR	7.0	10.0	unscreened	-	4136_17:2206936-2206936 C>G_LRGILATLAPQARSRENMKELKEAR
6:30917254-30917254 T>A	0.0	4136	BREAST	-	-	-	-	DPCR1	uc003nsg.2,p.F338Y|ENST00000462446,p.F338Y|NM_080870,p.F338Y	protein_coding	uc003nsg.2	nonsynonymous SNV	exon2	c.T1013A	p.F338Y	NRERTANENTAPFPAGPTENREMTA	NRERTANENTAPYPAGPTENREMTA	1.0	3.0	unscreened	-	4136_6:30917254-30917254 T>A_NRERTANENTAPYPAGPTENREMTA
19:39998520-39998520 A>C	0.0	4136	BREAST	-	-	-	-	DLL3	ENST00000356433,p.Y575S|NM_203486,p.Y575S|uc002olw.2,p.Y575S	retained_intron, protein_coding, processed_transcript	uc002olw.2	nonsynonymous SNV	exon8	c.A1724C	p.Y575S	WNRPEDVDPQGIYVISAPSIYAREA	WNRPEDVDPQGISVISAPSIYAREA	3.0	9.0	unscreened	-	4136_19:39998520-39998520 A>C_WNRPEDVDPQGISVISAPSIYAREA
19:39998520-39998520 A>C	0.0	4136	BREAST	-	-	-	-	DLL3	ENST00000205143,p.Y575S|uc002olx.2,p.Y575S|NM_016941,p.Y575S	retained_intron, protein_coding, processed_transcript	uc002olx.2	nonsynonymous SNV	exon8	c.A1724C	p.Y575S	WNRPEDVDPQGIYVISAPSIYAREV	WNRPEDVDPQGISVISAPSIYAREV	3.0	9.0	unscreened	-	4136_19:39998520-39998520 A>C_WNRPEDVDPQGISVISAPSIYAREV
14:20586433-20586433 A>T	0.0	4136	BREAST	-	-	-	-	OR4K17	NM_001004715,p.I290F|ENST00000315543,p.I290F|uc001vwo.1,p.I290F	protein_coding	uc001vwo.1	nonsynonymous SNV	exon1	c.A868T	p.I290F	VILFFGPCIFIYIWPFGNHSVDKFL	VILFFGPCIFIYFWPFGNHSVDKFL	1.0	6.0	unscreened	-	4136_14:20586433-20586433 A>T_VILFFGPCIFIYFWPFGNHSVDKFL
8:133816206-133816206 A>T	1.0	4136	BREAST	-	-	-	-	PHF20L1	uc010mdv.3,p.E191V|uc003ytr.3,p.E191V|ENST00000395386,p.E217V|NM_198513,p.E191V|NM_016018,p.E217V|ENST00000395390,p.E191V|ENST00000395382,p.E87V|ENST00000315808,p.E217V|uc011lja.2,p.E191V|ENST00000395383,p.E221V|uc003ytv.3,p.E56V|ENST00000395376,p.E221V|ENST00000395374,p.E56V|ENST00000361997,p.E191V|uc003ytt.3,p.E217V|ENST00000395379,p.E217V|NM_001277196,p.E191V|ENST00000486199,p.E191V|ENST00000337920,p.E191V|uc031tck.1,p.E87V	retained_intron, protein_coding, nonsense_mediated_decay	uc031tck.1	nonsynonymous SNV	exon4	c.A260T	p.E87V	ERKWFKVPSKKEETSTCIATPDVEK	ERKWFKVPSKKEVTSTCIATPDVEK	9.0	1.0	-	-	4136_8:133816206-133816206 A>T_ERKWFKVPSKKEVTSTCIATPDVEK
X:99662505-99662505 G>A	0.0	4136	BREAST	-	-	-	-	PCDH19	ENST00000420881,p.P364L|uc010nmz.3,p.P364L|NM_020766,p.P364L|ENST00000373034,p.P364L|ENST00000255531,p.P364L|uc004efw.4,p.P364L|NM_001105243,p.P364L|NM_001184880,p.P364L|uc004efx.4,p.P364L	protein_coding, processed_transcript	uc010nmz.3	nonsynonymous SNV	exon1	c.C1091T	p.P364L	NSELVEVSESAPPGYVIALVRVSDR	NSELVEVSESAPLGYVIALVRVSDR	2.0	7.0	unscreened	-	4136_X:99662505-99662505 G>A_NSELVEVSESAPLGYVIALVRVSDR
1:248308866-248308866 A>C	0.0	4136	BREAST	-	-	-	-	OR2M5	uc010pze.2,p.K139N|ENST00000366476,p.K139N|NM_001004690,p.K139N	protein_coding	uc010pze.2	nonsynonymous SNV	exon1	c.A417C	p.K139N	CHPLRYTNLMRPKICGLMTAFSWIL	CHPLRYTNLMRPNICGLMTAFSWIL	1.0	1.0	unscreened	-	4136_1:248308866-248308866 A>C_CHPLRYTNLMRPNICGLMTAFSWIL
8:128429114-128429114 T>G	0.0	4136	BREAST	-	-	-	-	POU5F1B	ENST00000391675,p.S335A|NM_001159542,p.S335A|ENST00000465342,p.S335A|uc003ysf.3,p.S335A	protein_coding	uc003ysf.3	nonsynonymous SNV	exon1	c.T1003G	p.S335A	GYGSPHFTALYSSVPFPEGEVFPPV	GYGSPHFTALYSAVPFPEGEVFPPV	2.0	4.0	unscreened	-	4136_8:128429114-128429114 T>G_GYGSPHFTALYSAVPFPEGEVFPPV
4:100126116-100126116 T>A	0.0	4136	BREAST	-	-	-	-	ADH6	uc003hup.4,p.N357Y|NM_000672,p.N357Y|ENST00000237653,p.N357Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc003hup.4	nonsynonymous SNV	exon8	c.A1069T	p.N357Y	PLITHTLNLDKINEAVELMKTGKW	PLITHTLNLDKIYEAVELMKTGKW	1.0	6.0	unscreened	-	4136_4:100126116-100126116 T>A_PLITHTLNLDKIYEAVELMKTGKW
4:100126116-100126116 T>A	0.0	4136	BREAST	-	-	-	-	ADH6	uc003huo.2,p.N357Y|NM_001102470,p.N357Y|uc011cef.1,p.N148Y|ENST00000407820,p.N148Y|ENST00000394899,p.N357Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cef.1	nonsynonymous SNV	exon6	c.A442T	p.N148Y	PLITHTLNLDKINEAVELMKTGKCI	PLITHTLNLDKIYEAVELMKTGKCI	1.0	6.0	unscreened	-	4136_4:100126116-100126116 T>A_PLITHTLNLDKIYEAVELMKTGKCI
5:56527069-56527069 A>G	1.0	4136	BREAST	-	-	-	-	GPBP1	ENST00000424459,p.H111R|uc003jrj.4,p.H118R|NM_001127235,p.H118R|ENST00000538707,p.H118R|NM_022913,p.H111R|ENST00000506184,p.H111R|NM_001127236,p.H118R|ENST00000454432,p.H111R|ENST00000511209,p.H118R|ENST00000264779,p.H118R|uc003jrk.4,p.H118R|uc003jrh.4,p.H111R	retained_intron, protein_coding	uc003jrk.4	nonsynonymous SNV	exon4	c.A353G	p.H118R	SSIFHAGKSQGLHENNIPDNETGRK	SSIFHAGKSQGLRENNIPDNETGRK	10.0	5.0	-	-	4136_5:56527069-56527069 A>G_SSIFHAGKSQGLRENNIPDNETGRK
7:144015521-144015521 C>G	0.0	4136	BREAST	-	-	-	-	OR2A1,OR2A42	NM_001001802,p.L102V|ENST00000408951,p.L102V|NM_001005287,p.L102V|uc011kud.2,p.L102V	protein_coding	uc011kud.2	nonsynonymous SNV	exon1	c.C304G	p.L102V	PISFAGCMTQTFLCLSFGHSECLLL	PISFAGCMTQTFVCLSFGHSECLLL	1.0	4.0	unscreened	-	4136_7:144015521-144015521 C>G_PISFAGCMTQTFVCLSFGHSECLLL
19:22940815-22940815 C>A	0.0	4136	BREAST	-	-	-	-	ZNF99	ENST00000596209,p.Q632H|NM_001080409,p.Q632H|ENST00000397104,p.Q541H|uc021urt.1,p.Q632H	protein_coding	uc021urt.1	nonsynonymous SNV	exon4	c.G1896T	p.Q632H	PYKCEECGKAFSQSSTLRKHEIIHT	PYKCEECGKAFSHSSTLRKHEIIHT	3.0	1.0	unscreened	-	4136_19:22940815-22940815 C>A_PYKCEECGKAFSHSSTLRKHEIIHT
X:69479411-69479411 C>T	0.0	4136	BREAST	-	-	-	-	P2RY4	NM_002565,p.E22K|ENST00000374519,p.E22K|uc004dxz.1,p.E22K	protein_coding	uc004dxz.1	nonsynonymous SNV	exon1	c.G64A	p.E22K	RSLGLSPGPGSSEVELDCWFDEDFK	RSLGLSPGPGSSKVELDCWFDEDFK	1.0	2.0	unscreened	-	4136_X:69479411-69479411 C>T_RSLGLSPGPGSSKVELDCWFDEDFK
19:48198157-48198157 G>A	0.0	4136	BREAST	-	-	-	-	GLTSCR1	uc002phi.4,p.V724M|ENST00000396720,p.V966M|NM_015711,p.V966M|uc002phh.4,p.V966M	retained_intron, protein_coding	uc002phi.4	nonsynonymous SNV	exon4	c.G2170A	p.V724M	PQPKALLERFHQVPSGIILQNKAGG	PQPKALLERFHQMPSGIILQNKAGG	4.0	9.0	unscreened	-	4136_19:48198157-48198157 G>A_PQPKALLERFHQMPSGIILQNKAGG
1:153233734-153233734 T>G	0.0	4136	BREAST	-	-	-	-	LOR	NM_000427,p.C103W|ENST00000368742,p.C103W|uc001fbm.3,p.C103W|uc021ozy.1,p.C103W	protein_coding	uc021ozy.1	nonsynonymous SNV	exon1	c.T309G	p.C103W	SGGGGSSGGGSGCFSSGGGGSGCFS	SGGGGSSGGGSGWFSSGGGGSGCFS	1.0	3.0	unscreened	-	4136_1:153233734-153233734 T>G_SGGGGSSGGGSGWFSSGGGGSGCFS
11:69514068-69514068 C>T	0.0	4136	BREAST	-	-	-	-	FGF19	NM_005117,p.G205R|uc001opf.3,p.G205R|ENST00000294312,p.G205R	protein_coding	uc001opf.3	nonsynonymous SNV	exon3	c.G613A	p.G205R	ETDSMDPFGLVTGLEAVRSPSFEK	ETDSMDPFGLVTRLEAVRSPSFEK	1.0	8.0	unscreened	-	4136_11:69514068-69514068 C>T_ETDSMDPFGLVTRLEAVRSPSFEK
6:130762213-130762213 T>C	0.0	4136	BREAST	-	-	-	-	TMEM200A	uc021zfg.1,p.F216L|NM_001258277,p.F216L|NM_052913,p.F216L|NM_001258278,p.F216L|uc003qca.4,p.F216L|uc003qcb.3,p.F216L|ENST00000392429,p.F216L|NM_001258276,p.F216L|uc010kfi.4,p.F216L|uc010kfh.4,p.F216L|ENST00000296978,p.F216L|ENST00000545622,p.F216L	protein_coding	uc021zfg.1	nonsynonymous SNV	exon1	c.T646C	p.F216L	RLAANTIASFSGFRSSFRMDSSVEE	RLAANTIASFSGLRSSFRMDSSVEE	5.0	4.0	unscreened	-	4136_6:130762213-130762213 T>C_RLAANTIASFSGLRSSFRMDSSVEE
18:55919248-55919249 CA>-	1.0	4136	BREAST	-	-	-	-	NEDD4L	NM_001144968,p.H79fs|NM_001144967,p.H87fs|uc002lgz.3,p.H87fs|ENST00000382850,p.H87fs|ENST00000256830,p.H87fs|ENST00000586263,p.H79fs|uc002lhe.2,p.H79fs|ENST00000400345,p.H87fs|uc002lgy.3,p.H87fs|NM_015277,p.H87fs|NM_001243960,p.H87fs|ENST00000357895,p.H79fs|uc002lgx.3,p.H87fs|ENST00000356462,p.H87fs|uc002lhc.2,p.H79fs|NM_001144969,p.H79fs	retained_intron, protein_coding, processed_transcript	uc002lhe.2	frameshift deletion	exon5	c.235_236del	p.H79fs	NEEFYFRVNPSNHRLLFEVFDENRL	NEEFYFRVNPSNQTPI	7.0	9.0	unscreened	-	4136_18:55919248-55919249 CA>-_NEEFYFRVNPSNQTPI
6:127476473-127476473 G>A	0.0	4136	BREAST	-	-	-	1	RSPO3	ENST00000356698,p.R175Q|ENST00000368317,p.R175Q|NM_032784,p.R175Q|uc003qas.1,p.R175Q|uc003qar.3,p.R175Q	protein_coding, processed_transcript	uc003qas.1	nonsynonymous SNV	exon4	c.G524A	p.R175Q	GKTCGFKRGTETRVREIIQHPSAKG	GKTCGFKRGTETQVREIIQHPSAKG	1.0	10.0	unscreened	-	4136_6:127476473-127476473 G>A_GKTCGFKRGTETQVREIIQHPSAKG
7:100644090-100644090 G>A	0.0	4136	BREAST	-	rs149265838	-	-	MUC12	uc003uxo.3,p.A3416T|ENST00000379442,p.A3559T|ENST00000536621,p.A3416T|NM_001164462,p.A3416T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.G10246A	p.A3416T	SEESTASHSSQDATGTIVLPARSTT	SEESTASHSSQDTTGTIVLPARSTT	2.0	2.0	unscreened	-	4136_7:100644090-100644090 G>A_SEESTASHSSQDTTGTIVLPARSTT
20:33875026-33875026 T>A	0.0	4136	BREAST	-	-	-	-	FAM83C	ENST00000374408,p.E519V|uc002xcb.1,p.E174V|uc021wck.1,p.E519V|NM_178468,p.E519V	protein_coding	uc021wck.1	nonsynonymous SNV	exon4	c.A1556T	p.E519V	QLDLLVPFPRAREVGDPDSGVTPNS	QLDLLVPFPRARVVGDPDSGVTPNS	1.0	1.0	unscreened	-	4136_20:33875026-33875026 T>A_QLDLLVPFPRARVVGDPDSGVTPNS
8:144522463-144522463 C>T	1.0	4136	BREAST	-	-	-	-	ZC3H3	ENST00000262577,p.A855T|uc003yyd.2,p.A855T|NM_015117,p.A855T	protein_coding	uc003yyd.2	nonsynonymous SNV	exon11	c.G2563A	p.A855T	TPSSAALTAAAVAAPPHCPGGSASP	TPSSAALTAAAVTAPPHCPGGSASP	6.0	8.0	-	-	4136_8:144522463-144522463 C>T_TPSSAALTAAAVTAPPHCPGGSASP
X:31514985-31514985 G>T	0.0	4136	BREAST	-	-	-	-	DMD	ENST00000358062,p.L519M|NM_000109,p.L2815M|NM_004006,p.L2823M|uc004dct.1,p.L363M|uc004dcs.1,p.L363M|uc004dda.1,p.L2823M|NM_004013,p.L363M|NM_004009,p.L2819M|uc004dcx.2,p.L1482M|uc004dcz.2,p.L2700M|ENST00000378707,p.L363M|ENST00000357033,p.L2823M|ENST00000474231,p.L363M|NM_004011,p.L1482M|uc004dcy.1,p.L2819M|uc004ddb.1,p.L2815M|NM_004014,p.L94M|uc004dcv.1,p.L363M|NM_004020,p.L363M|NM_004022,p.L363M|ENST00000541735,p.L363M|ENST00000378677,p.L2819M|NM_004012,p.L1479M|uc004dcw.2,p.L1479M|NM_004021,p.L363M|NM_004010,p.L2700M|NM_004023,p.L363M|uc004dcr.1,p.L363M|uc004dcq.1,p.L94M|uc004dcu.1,p.L363M|ENST00000343523,p.L363M|ENST00000359836,p.L363M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004ddb.1	nonsynonymous SNV	exon57	c.C8443A	p.L2815M	HLSLQELLVWLQLKDDELSRQAPIG	HLSLQELLVWLQMKDDELSRQAPIG	8.0	5.0	unscreened	-	4136_X:31514985-31514985 G>T_HLSLQELLVWLQMKDDELSRQAPIG
6:70048837-70048837 C>A	0.0	4136	BREAST	-	-	-	-	BAI3	ENST00000238918,p.T279K|uc010kak.3,p.T1073K|ENST00000546190,p.T37K|ENST00000370598,p.T1073K|uc003pev.4,p.T1073K|uc011dxx.2,p.T279K|NM_001704,p.T1073K	protein_coding	uc011dxx.2	nonsynonymous SNV	exon9	c.C836A	p.T279K	RAGQMSEPHSGLTLKCAKCGVVSTT	RAGQMSEPHSGLKLKCAKCGVVSTT	1.0	9.0	unscreened	-	4136_6:70048837-70048837 C>A_RAGQMSEPHSGLKLKCAKCGVVSTT
3:108127156-108127156 C>G	0.0	4136	BREAST	-	-	ID=COSM3944635;OCCURENCE=1(lung)	-	MYH15	NM_014981,p.E1551Q|ENST00000273353,p.E1551Q|uc003dxa.1,p.E1551Q	retained_intron, protein_coding, processed_transcript	uc003dxa.1	nonsynonymous SNV	exon33	c.G4651C	p.E1551Q	EKVKKLIEEEKTEVQVTLEETEGAL	EKVKKLIEEEKTQVQVTLEETEGAL	2.0	6.0	unscreened	-	4136_3:108127156-108127156 C>G_EKVKKLIEEEKTQVQVTLEETEGAL
20:31644420-31644420 G>C	0.0	4136	BREAST	-	-	-	-	BPIFB3	uc002wym.1,p.G66A|NM_182658,p.G66A|ENST00000375494,p.G66A	protein_coding	uc002wym.1	nonsynonymous SNV	exon2	c.G197C	p.G66A	QNVLGSVTAVNRGLLGSGGLLGGGG	QNVLGSVTAVNRALLGSGGLLGGGG	1.0	8.0	unscreened	-	4136_20:31644420-31644420 G>C_QNVLGSVTAVNRALLGSGGLLGGGG
1:35223718-35223718 C>T	0.0	4136	BREAST	-	-	-	-	GJB5	ENST00000338513,p.R263C|uc021okz.1,p.R263C|uc001bxu.4,p.R263C|NM_005268,p.R263C	protein_coding	uc021okz.1	nonsynonymous SNV	exon1	c.C787T	p.R263C	LGSDSHPPLLPDRPRDHVKKTIL	LGSDSHPPLLPDCPRDHVKKTIL	2.0	1.0	unscreened	-	4136_1:35223718-35223718 C>T_LGSDSHPPLLPDCPRDHVKKTIL
3:195508500-195508500 G>C	0.0	4136	BREAST	-	-	-	2	MUC4	ENST00000477086,p.D3317E|NM_018406,p.D3317E|ENST00000480843,p.D3317E|ENST00000466475,p.D3317E|ENST00000477756,p.D3317E|ENST00000470451,p.D3317E|ENST00000475231,p.D3317E|ENST00000463781,p.D3317E|ENST00000462323,p.D3317E|ENST00000479406,p.D3317E|uc021xjp.1,p.D3317E|ENST00000478156,p.D3317E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C9951G	p.D3317E	VSTGHATPLLVTDASSASTGHATPL	VSTGHATPLLVTEASSASTGHATPL	4.0	2.0	unscreened	-	4136_3:195508500-195508500 G>C_VSTGHATPLLVTEASSASTGHATPL
16:698121-698128 CTTTGTGC>-	0.0	4136	BREAST	-	-	-	-	FAM195A	ENST00000307650,p.N138fs|uc002cic.1,p.N138fs|NM_138418,p.N138fs	retained_intron, protein_coding, nonsense_mediated_decay	uc002cic.1	frameshift deletion	exon5	c.414_421del	p.N138fs	QYVERTPNPRLQNFVPIDLDEWWAQ	QYVERTPNPRLQNH	10.0	1.0	unscreened	-	4136_16:698121-698128 CTTTGTGC>-_QYVERTPNPRLQNH
3:193361192-193361192 C>G	1.0	4136	BREAST	-	-	-	-	OPA1	uc003ftl.3,p.L373V|ENST00000361715,p.L410V|NM_130835,p.L410V|uc003fti.3,p.L428V|NM_015560,p.L391V|uc003ftj.3,p.L409V|NM_130836,p.L428V|ENST00000361908,p.L428V|NM_130833,p.L392V|ENST00000392438,p.L391V|uc003fth.3,p.L410V|NM_130831,p.L355V|NM_130837,p.L446V|ENST00000361828,p.L409V|NM_130832,p.L373V|ENST00000361150,p.L392V|uc003ftg.3,p.L446V|NM_130834,p.L409V|uc003ftm.3,p.L391V|ENST00000361510,p.L446V|uc003ftk.3,p.L392V|uc003ftn.3,p.L355V	retained_intron, protein_coding, processed_transcript	uc003ftn.3	nonsynonymous SNV	exon11	c.C1063G	p.L355V	PETISLNVKGPGLQRMVLVDLPGVI	PETISLNVKGPGVQRMVLVDLPGVI	9.0	5.0	-	-	4136_3:193361192-193361192 C>G_PETISLNVKGPGVQRMVLVDLPGVI
17:39262233-39262233 G>C	0.0	4136	BREAST	-	-	ID=COSM1293668,COSM1293669;OCCURENCE=1(cervix)	-	KRTAP4-9	NM_001146041,p.S198T|uc010wfp.2,p.S198T|ENST00000391415,p.S198T	protein_coding	uc010wfp.2	nonsynonymous SNV	exon1	c.G593C	p.S198T	HTTCYRPTCVISSCPRPLCCASSCC	HTTCYRPTCVISTCPRPLCCASSCC	1.0	2.0	unscreened	-	4136_17:39262233-39262233 G>C_HTTCYRPTCVISTCPRPLCCASSCC
18:348160-348160 A>G	0.0	4136	BREAST	-	-	-	-	COLEC12	ENST00000400256,p.V62A|NM_130386,p.V62A|uc002kkm.3,p.V62A	retained_intron, protein_coding	uc002kkm.3	nonsynonymous SNV	exon4	c.T185C	p.V62A	LTITVAILGYKVVEKMDNVTGGMET	LTITVAILGYKVAEKMDNVTGGMET	5.0	7.0	unscreened	-	4136_18:348160-348160 A>G_LTITVAILGYKVAEKMDNVTGGMET
8:144511763-144511763 G>T	0.0	4136	BREAST	-	-	-	-	MAFA	ENST00000333480,p.R272S|NM_201589,p.R272S|uc003yyc.2,p.R272S	protein_coding, processed_transcript	uc003yyc.2	nonsynonymous SNV	exon1	c.C814A	p.R272S	RTLKNRGYAQSCRFKRVQQRHILES	RTLKNRGYAQSCSFKRVQQRHILES	2.0	6.0	unscreened	-	4136_8:144511763-144511763 G>T_RTLKNRGYAQSCSFKRVQQRHILES
16:2867911-2867911 C>G	0.0	4136	BREAST	-	-	-	-	PRSS21	ENST00000570629,p.R65G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000570629	nonsynonymous SNV	exon3	c.C193G	p.R65G	AGEPAPVGFPRMRSEPAQPPLGTHG	AGEPAPVGFPRMGSEPAQPPLGTHG	3.0	5.0	unscreened	-	4136_16:2867911-2867911 C>G_AGEPAPVGFPRMGSEPAQPPLGTHG
12:5603879-5603879 G>A	0.0	4136	BREAST	-	-	-	-	NTF3	uc001qnk.4,p.D180N|ENST00000331010,p.D167N|NM_002527,p.D167N|ENST00000423158,p.D180N|NM_001102654,p.D180N|uc001qnl.4,p.D167N	protein_coding, processed_transcript	uc001qnl.4	nonsynonymous SNV	exon1	c.G499A	p.D167N	ESLWVTDKSSAIDIRGHQVTVLGEI	ESLWVTDKSSAINIRGHQVTVLGEI	2.0	5.0	unscreened	-	4136_12:5603879-5603879 G>A_ESLWVTDKSSAINIRGHQVTVLGEI
7:150773383-150773393 AACGAGGCAGA>-	0.0	4136	BREAST	-	-	-	-	SLC4A2	NM_003040,p.N1219fs|uc022apz.1,p.N1219fs|NM_001199692,p.N1219fs|uc011kve.2,p.N1210fs|ENST00000392826,p.N1210fs|ENST00000485713,p.N1219fs|NM_001199694,p.N1205fs|NM_001199693,p.N1210fs|ENST00000310317,p.N1137fs|uc003wit.4,p.N1219fs|ENST00000413384,p.N1219fs|uc003wiu.4,p.N1205fs|ENST00000461735,p.N1205fs	retained_intron, protein_coding, processed_transcript	uc022apz.1	frameshift deletion	exon23	c.3655_3665del	p.N1219fs	IFTDREMKCLDANEAEPVFDEREGV	IFTDREMKCLDAAGV	10.0	3.0	unscreened	-	4136_7:150773383-150773393 AACGAGGCAGA>-_IFTDREMKCLDAAGV
9:114199363-114199363 G>A	1.0	4136	BREAST	-	-	-	-	KIAA0368	ENST00000602447,p.R195C|NM_001080398,p.R367C|ENST00000338205,p.R189C|ENST00000259335,p.R367C|uc010muc.1,p.R189C|uc004bfe.1,p.R367C	protein_coding, processed_transcript	uc010muc.1	nonsynonymous SNV	exon7	c.C565T	p.R189C	MPYGYVLNESQSRQNSSSAQGSSSN	MPYGYVLNESQSCQNSSSAQGSSSN	10.0	4.0	-	-	4136_9:114199363-114199363 G>A_MPYGYVLNESQSCQNSSSAQGSSSN
6:30995080-30995080 G>C	0.0	4136	BREAST	-	-	-	-	MUC22	NM_001198815,p.E624D|uc021yug.1,p.E624D|ENST00000561890,p.E624D|uc021yuh.1,p.E627D	protein_coding	uc021yuh.1	nonsynonymous SNV	exon3	c.G1881C	p.E627D	GSETSTDSTTGSETTTASTEGSETT	GSETSTDSTTGSDTTTASTEGSETT	1.0	4.0	unscreened	-	4136_6:30995080-30995080 G>C_GSETSTDSTTGSDTTTASTEGSETT
12:108985556-108985556 C>A	0.0	4136	BREAST	-	-	-	-	TMEM119	uc021rdl.1,p.G202C|uc001tng.3,p.G202C|NM_181724,p.G202C|ENST00000392806,p.G202C	protein_coding	uc021rdl.1	nonsynonymous SNV	exon1	c.G604T	p.G202C	ALGGGDGARMVEGRGAEEEEKGSQE	ALGGGDGARMVECRGAEEEEKGSQE	6.0	7.0	unscreened	-	4136_12:108985556-108985556 C>A_ALGGGDGARMVECRGAEEEEKGSQE
6:30995078-30995078 G>A	0.0	4136	BREAST	-	-	-	-	MUC22	ENST00000561890,p.E624K|NM_001198815,p.E624K|uc021yug.1,p.E624K|uc021yuh.1,p.E627K	protein_coding	uc021yuh.1	nonsynonymous SNV	exon3	c.G1879A	p.E627K	GSETSTDSTTGSETTTASTEGSETT	GSETSTDSTTGSKTTTASTEGSETT	1.0	4.0	unscreened	-	4136_6:30995078-30995078 G>A_GSETSTDSTTGSKTTTASTEGSETT
21:45877263-45877263 G>A	0.0	4136	BREAST	-	-	-	-	LRRC3	ENST00000291592,p.A246T|uc021wjs.1,p.A246T|uc002zfa.3,p.A246T|NM_030891,p.A246T	protein_coding	uc021wjs.1	nonsynonymous SNV	exon1	c.G736A	p.A246T	RRHLEYLKSLPSAPASKDPIGPGP	RRHLEYLKSLPSTPASKDPIGPGP	4.0	6.0	unscreened	-	4136_21:45877263-45877263 G>A_RRHLEYLKSLPSTPASKDPIGPGP
X:53560337-53560337 A>G	1.0	4149	OVARIAN	-	-	-	-	HUWE1	uc004dsp.4,p.F4353S|NM_031407,p.F4353S|ENST00000262854,p.F4353S|ENST00000342160,p.F4353S|uc004dsn.4,p.F3161S	protein_coding, processed_transcript	uc004dsp.4	nonsynonymous SNV	exon84	c.T13058C	p.F4353S	CFNQLDLPAYESFEKLRHMLLLAIQ	CFNQLDLPAYESSEKLRHMLLLAIQ	10.0	9.0	CD8	-	4149_X:53560337-53560337 A>G_CFNQLDLPAYESSEKLRHMLLLAIQ
22:36710236-36710245 TCGATGAAGT>-	0.0	4149	OVARIAN	-	-	-	1	MYH9	ENST00000216181,p.N500fs|NM_002473,p.N500fs|uc003aph.1,p.N364fs|uc003apg.3,p.N500fs	retained_intron, protein_coding, processed_transcript	uc003aph.1	frameshift deletion	exon11	c.1091_1100del	p.N364fs	EQEEYQREGIEWNFIDFGLDLQPCI	EQEEYQREGIEWTLASTCSPASTSLRSQQAPRAFWPCWTRSAGSPKPPTRASWRR	8.0	8.0	-	-	4149_22:36710236-36710245 TCGATGAAGT>-_EQEEYQREGIEWTLASTCSPASTSLRSQQAPRAFWPCWTRSAGSPKPPTRASWRR
7:91726655-91726655 A>G	1.0	4149	OVARIAN	-	-	-	2	AKAP9	ENST00000358100,p.Y3411C|uc003ulf.3,p.Y3453C|ENST00000359028,p.Y3465C|uc003ull.3,p.Y357C|uc003ulg.3,p.Y3461C|uc003uli.3,p.Y3084C|NM_147185,p.Y3453C|uc003ulj.3,p.Y1231C|ENST00000394534,p.Y1307C|NM_005751,p.Y3461C|ENST00000356239,p.Y3461C	retained_intron, protein_coding, processed_transcript	uc003ull.3	nonsynonymous SNV	exon3	c.A1070G	p.Y357C	EREEKRESRRILYQNLNEPTTWSLT	EREEKRESRRILCQNLNEPTTWSLT	10.0	2.0	-	-	4149_7:91726655-91726655 A>G_EREEKRESRRILCQNLNEPTTWSLT
19:44237879-44237881 AAG>-	0.0	4149	OVARIAN	-	-	-	-	SMG9	NM_019108,p.369_370del|ENST00000270066,p.369_370del|uc002oxk.2,p.369_370del|uc002oxj.2,p.369_370del|ENST00000601170,p.369_370del	retained_intron, protein_coding, nonsense_mediated_decay	uc002oxk.2	nonframeshift deletion	exon11	c.1107_1109del	p.369_370del	SDEGTEYYPHLVFLQNKARREDFCP	SDEGTEYYPHLVLQNKARREDFCPR	8.0	8.0	-	-	4149_19:44237879-44237881 AAG>-_SDEGTEYYPHLVLQNKARREDFCPR
11:111942407-111942407 G>C	0.0	4149	OVARIAN	-	-	-	-	PIH1D2	uc010rws.1,p.P85A|ENST00000530641,p.P85A|uc009yyl.3,p.P85A|ENST00000528775,p.P85A|ENST00000431456,p.P85A|ENST00000280350,p.P85A|NM_001082619,p.P85A|ENST00000525744,p.P50A|NM_138789,p.P85A|ENST00000532211,p.P85A|uc001pmp.4,p.P85A	protein_coding, processed_transcript, non_stop_decay	uc010rws.1	nonsynonymous SNV	exon3	c.C253G	p.P85A	WTRIPAPQSTTHPVPLTVGKPEDTT	WTRIPAPQSTTHAVPLTVGKPEDTT	7.0	2.0	-	-	4149_11:111942407-111942407 G>C_WTRIPAPQSTTHAVPLTVGKPEDTT
10:115887350-115887350 G>C	1.0	4149	OVARIAN	-	-	-	-	CCDC186	ENST00000369287,p.Q755E|uc009xyd.1,p.Q353E|uc001lbc.1,p.Q755E|ENST00000543782,p.Q353E|uc001lbb.1,p.Q755E|NM_018017,p.Q755E	protein_coding, processed_transcript	uc009xyd.1	nonsynonymous SNV	exon9	c.C1057G	p.Q353E	NTGSSVAVDNFPQVDKAMLIERIVR	NTGSSVAVDNFPEVDKAMLIERIVR	9.0	9.0	-	-	4149_10:115887350-115887350 G>C_NTGSSVAVDNFPEVDKAMLIERIVR
11:17316873-17316873 G>T	0.0	4149	OVARIAN	-	-	-	-	NUCB2	uc001mms.1,p.M2I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001mms.1	nonsynonymous SNV	exon9	c.G6T	p.M2I	MMRWRTILLQYCFL	MIRWRTILLQYCFL	10.0	7.0	unscreened	-	4149_11:17316873-17316873 G>T_MIRWRTILLQYCFL
19:5951549-5951549 T>A	0.0	4149	OVARIAN	-	-	-	-	RANBP3	ENST00000592133,p.R65W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000592133	nonsynonymous SNV	exon4	c.A193T	p.R65W	CRIRERSLGGRLRPPTMARVTPSQL	CRIRERSLGGRLWPPTMARVTPSQL	8.0	10.0	unscreened	-	4149_19:5951549-5951549 T>A_CRIRERSLGGRLWPPTMARVTPSQL
5:78533288-78533288 G>A	0.0	4149	OVARIAN	-	-	-	-	JMY	uc003kfx.4,p.G272E|NM_152405,p.G272E|ENST00000396137,p.G272E	protein_coding, processed_transcript	uc003kfx.4	nonsynonymous SNV	exon1	c.G815A	p.G272E	PEEPSGMWTVLFGGAPEMTEQEIDT	PEEPSGMWTVLFEGAPEMTEQEIDT	8.0	8.0	-	-	4149_5:78533288-78533288 G>A_PEEPSGMWTVLFEGAPEMTEQEIDT
19:9237454-9237454 G>A	0.0	4149	OVARIAN	-	-	ID=COSM1494505;OCCURENCE=1(kidney)	-	OR7G3	ENST00000305444,p.P58L|NM_001001958,p.P58L|uc010xkl.2,p.P58L	protein_coding	uc010xkl.2	nonsynonymous SNV	exon1	c.C173T	p.P58L	ILAVNSDSHLHTPMYFLLSILSLVD	ILAVNSDSHLHTLMYFLLSILSLVD	1.0	10.0	-	-	4149_19:9237454-9237454 G>A_ILAVNSDSHLHTLMYFLLSILSLVD
2:27247103-27247103 C>T	1.0	4149	OVARIAN	-	-	-	-	MAPRE3	ENST00000233121,p.A136V|ENST00000458529,p.A136V|NM_012326,p.A136V|uc002rhw.3,p.A136V	retained_intron, protein_coding, processed_transcript	uc002rhw.3	nonsynonymous SNV	exon4	c.C407T	p.A136V	YNPLLARQGQDVAPPPNPGDQIFNK	YNPLLARQGQDVVPPPNPGDQIFNK	8.0	5.0	-	-	4149_2:27247103-27247103 C>T_YNPLLARQGQDVVPPPNPGDQIFNK
1:236719455-236719455 C>T	1.0	4149	OVARIAN	-	-	-	-	HEATR1	uc009xgh.2,p.R982Q|ENST00000366582,p.R1820Q|NM_018072,p.R1820Q|uc001hyd.2,p.R1820Q|ENST00000366581,p.R1739Q	protein_coding, processed_transcript	uc009xgh.2	nonsynonymous SNV	exon20	c.G2945A	p.R982Q	SLKKTLATTLAPRVLLPAIKKTYKQ	SLKKTLATTLAPQVLLPAIKKTYKQ	7.0	6.0	-	-	4149_1:236719455-236719455 C>T_SLKKTLATTLAPQVLLPAIKKTYKQ
4:87607882-87607882 G>T	0.0	4149	OVARIAN	-	-	-	1	PTPN13	uc003hpz.3,p.G105V|ENST00000427191,p.G105V|ENST00000502971,p.G105V|uc003hqa.3,p.G105V|NM_080684,p.G105V|NM_006264,p.G105V|ENST00000316707,p.G105V|ENST00000436978,p.G105V|ENST00000507902,p.G105V|NM_080685,p.G105V|ENST00000511467,p.G105V|uc003hqb.3,p.G105V|uc003hpy.3,p.G105V|NM_080683,p.G105V|ENST00000411767,p.G105V	retained_intron, protein_coding	uc003hqb.3	nonsynonymous SNV	exon4	c.G314T	p.G105V	LSDVEKIHIYSLGMTLYWGADYEVP	LSDVEKIHIYSLVMTLYWGADYEVP	5.0	7.0	-	-	4149_4:87607882-87607882 G>T_LSDVEKIHIYSLVMTLYWGADYEVP
11:128359238-128359241 GCCA>-	0.0	4149	OVARIAN	-	-	-	-	ETS1	ENST00000319397,p.L116fs|NM_001143820,p.L160fs|ENST00000531611,p.L116fs|ENST00000526145,p.L116fs|ENST00000345075,p.L116fs|NM_005238,p.L116fs|ENST00000392668,p.L160fs|uc009zcg.2,p.L116fs|uc010sbs.1,p.L116fs|uc001qej.2,p.L160fs	retained_intron, protein_coding, processed_transcript	uc010sbs.1	frameshift deletion	exon3	c.347_350del	p.L116fs	ALCALGKDCFLELAPDFVGDILWEH	ALCALGKDCFLEPQTLLGTSYGNI	7.0	1.0	-	-	4149_11:128359238-128359241 GCCA>-_ALCALGKDCFLEPQTLLGTSYGNI
2:27247103-27247103 C>T	1.0	4149	OVARIAN	-	-	-	-	MAPRE3	ENST00000405074,p.A136V|ENST00000402218,p.A136V	retained_intron, protein_coding, processed_transcript	ENST00000405074	nonsynonymous SNV	exon4	c.C407T	p.A136V	YNPLLARQGQDVAPPPNPVPQRTSP	YNPLLARQGQDVVPPPNPVPQRTSP	8.0	5.0	unscreened	-	4149_2:27247103-27247103 C>T_YNPLLARQGQDVVPPPNPVPQRTSP
17:7578190-7578190 T>C	1.0	4149	OVARIAN	-	-	ID=COSM99718,COSM3355993,COSM99719,COSM1644277,COSM99720,COSM10758;OCCURENCE=18(oesophagus),1(bone),27(upper_aerodigestive_tract),20(central_nervous_system),12(stomach),12(haematopoietic_and_lymphoid_tissue),1(peritoneum),27(lung),4(endometrium),44(ovary),7(soft_tissue),17(large_intestine),1(biliary_tract),1(prostate),8(liver),5(pancreas),16(urinary_tract),3(small_intestine),33(breast),1(skin)	1	TP53	uc010vug.3,p.Y181C	retained_intron, protein_coding, processed_transcript	uc010vug.3	nonsynonymous SNV	exon5	c.A542G	p.Y181C	DRNTFRHSVVVPYEPPEVWFATGVS	DRNTFRHSVVVPCEPPEVWFATGVS	10.0	10.0	unscreened	-	4149_17:7578190-7578190 T>C_DRNTFRHSVVVPCEPPEVWFATGVS
2:96690199-96690199 C>T	0.0	4149	OVARIAN	-	-	-	-	GPAT2	uc002svg.3,p.V428I|uc002svd.3,p.V368I|ENST00000434632,p.V549I|ENST00000359548,p.V549I|uc002svh.3,p.V549I|NM_207328,p.V549I|uc010yuh.2,p.V478I|uc002sve.3,p.V351I|uc002svf.3,p.V549I|ENST00000377137,p.V549I|ENST00000453542,p.V478I	retained_intron, protein_coding, processed_transcript	uc010yuh.2	nonsynonymous SNV	exon14	c.G1432A	p.V478I	THLAQLSAELLPVFLSEAVGACAVR	THLAQLSAELLPIFLSEAVGACAVR	5.0	3.0	-	-	4149_2:96690199-96690199 C>T_THLAQLSAELLPIFLSEAVGACAVR
17:7578190-7578190 T>C	1.0	4149	OVARIAN	-	-	ID=COSM99718,COSM3355993,COSM99719,COSM1644277,COSM99720,COSM10758;OCCURENCE=18(oesophagus),1(bone),27(upper_aerodigestive_tract),20(central_nervous_system),12(stomach),12(haematopoietic_and_lymphoid_tissue),1(peritoneum),27(lung),4(endometrium),44(ovary),7(soft_tissue),17(large_intestine),1(biliary_tract),1(prostate),8(liver),5(pancreas),16(urinary_tract),3(small_intestine),33(breast),1(skin)	1	TP53	NM_001126113,p.Y220C|uc002gin.3,p.Y127C|NM_001276697,p.Y61C|NM_000546,p.Y220C|NM_001126112,p.Y220C|NM_001126118,p.Y181C|uc002gij.3,p.Y181C|uc002gih.3,p.Y220C|uc031qyq.1,p.Y181C|NM_001276696,p.Y181C|uc002gii.2,p.Y61C|ENST00000269305,p.Y220C|NM_001276761,p.Y181C|uc010cng.2,p.Y61C|ENST00000455263,p.Y220C|NM_001276698,p.Y61C|NM_001126116,p.Y88C|ENST00000420246,p.Y220C|NM_001126114,p.Y220C|NM_001276760,p.Y181C|uc002gig.1,p.Y220C|NM_001276695,p.Y181C|uc002gio.3,p.Y88C|ENST00000413465,p.Y220C|ENST00000445888,p.Y220C|ENST00000359597,p.Y220C|uc010cnf.2,p.Y61C|NM_001126117,p.Y88C|NM_001126115,p.Y88C|ENST00000514944,p.Y127C|NM_001276699,p.Y61C|ENST00000509690,p.Y88C	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon5	c.A542G	p.Y181C	DRNTFRHSVVVPYEPPEVGSDCTTI	DRNTFRHSVVVPCEPPEVGSDCTTI	10.0	10.0	-	-	4149_17:7578190-7578190 T>C_DRNTFRHSVVVPCEPPEVGSDCTTI
22:21350356-21350356 G>A	0.0	4149	OVARIAN	-	-	-	1	LZTR1	ENST00000215739,p.R725H|ENST00000389355,p.R706H|uc011ahy.2,p.R706H|uc002ztn.3,p.R684H|NM_006767,p.R725H|uc002zto.3,p.R725H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ahy.2	nonsynonymous SNV	exon17	c.G2117A	p.R706H	MVPSRQAFESMLRYIYYGEVNMPPE	MVPSRQAFESMLHYIYYGEVNMPPE	5.0	6.0	-	-	4149_22:21350356-21350356 G>A_MVPSRQAFESMLHYIYYGEVNMPPE
22:46725313-46725313 A>G	0.0	4149	OVARIAN	-	-	-	-	GTSE1	ENST00000454366,p.Q662R|uc011aqy.2,p.Q662R|uc011aqz.2,p.Q509R|NM_016426,p.Q662R	retained_intron, protein_coding	uc011aqz.2	nonsynonymous SNV	exon10	c.A1526G	p.Q509R	LEPLAVTPDAASQPLIDLPLIDFCD	LEPLAVTPDAASRPLIDLPLIDFCD	5.0	1.0	-	-	4149_22:46725313-46725313 A>G_LEPLAVTPDAASRPLIDLPLIDFCD
17:37900397-37900397 G>C	0.0	4149	OVARIAN	-	-	-	-	GRB7	NM_005310,p.W246C|ENST00000445327,p.W269C|uc021twu.1,p.W269C|ENST00000309185,p.W246C|uc002hsr.3,p.W246C|uc002hss.3,p.W246C|ENST00000394211,p.W246C|ENST00000394209,p.W246C|ENST00000394204,p.W246C|uc010cwc.3,p.W246C|NM_001242443,p.W246C|NM_001030002,p.W246C|uc002hst.3,p.W246C|NM_001242442,p.W269C|ENST00000309156,p.W246C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021twu.1	nonsynonymous SNV	exon7	c.G807C	p.W269C	GFLQLRGSGRKLWKRFFCFLRRSGL	GFLQLRGSGRKLCKRFFCFLRRSGL	4.0	9.0	-	-	4149_17:37900397-37900397 G>C_GFLQLRGSGRKLCKRFFCFLRRSGL
11:1077676-1077687 CCTCACCCTCAT>-	0.0	4149	OVARIAN	-	-	-	-	MUC2	NM_002457,p.142_146del|ENST00000359061,p.142_146del|ENST00000441003,p.142_146del|uc001lsx.1,p.142_146del	protein_coding	uc001lsx.1	nonframeshift deletion	exon3	c.426_437del	p.142_146del	KSDAYTKVYSRAGLTLMWNREDALM	KSDAYTKVYSRAGWNREDALMLELD	1.0	3.0	unscreened	-	4149_11:1077676-1077687 CCTCACCCTCAT>-_KSDAYTKVYSRAGWNREDALMLELD
12:124090517-124090517 G>A	1.0	4149	OVARIAN	-	-	-	-	DDX55	uc001ufi.3,p.A50T|NM_020936,p.A50T|ENST00000354291,p.A50T|ENST00000238146,p.A50T|ENST00000538744,p.A50T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ufi.3	nonsynonymous SNV	exon2	c.G148A	p.A50T	ATIPLFMRNKDVAAEAVTGSGKTLA	ATIPLFMRNKDVTAEAVTGSGKTLA	10.0	7.0	-	-	4149_12:124090517-124090517 G>A_ATIPLFMRNKDVTAEAVTGSGKTLA
19:5951549-5951549 T>A	0.0	4149	OVARIAN	-	-	-	-	RANBP3	NM_003624,p.E46V|ENST00000591333,p.E67V|ENST00000340578,p.E46V|NM_007322,p.E46V|ENST00000587263,p.E46V|uc002mdw.3,p.E46V|ENST00000439268,p.E46V|uc002mdx.3,p.E46V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mdx.3	nonsynonymous SNV	exon3	c.A137T	p.E46V	LSDSGEEPRGEAEAPHHGTGHPESA	LSDSGEEPRGEAVAPHHGTGHPESA	8.0	10.0	-	-	4149_19:5951549-5951549 T>A_LSDSGEEPRGEAVAPHHGTGHPESA
12:49230777-49230777 T>C	1.0	4149	OVARIAN	-	-	-	-	DDX23	ENST00000308025,p.I304V|uc001rsm.3,p.I304V|NM_004818,p.I304V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rsm.3	nonsynonymous SNV	exon9	c.A910G	p.I304V	ERHQVQLLGRGFIAGIDLKQQKREQ	ERHQVQLLGRGFVAGIDLKQQKREQ	10.0	7.0	-	-	4149_12:49230777-49230777 T>C_ERHQVQLLGRGFVAGIDLKQQKREQ
1:152732884-152732884 C>T	0.0	4149	OVARIAN	-	-	-	-	KPRP	NM_001025231,p.R274C|ENST00000606109,p.R274C|uc021ozf.1,p.R274C|ENST00000368773,p.R274C|uc001fal.1,p.R274C	protein_coding	uc021ozf.1	nonsynonymous SNV	exon1	c.C820T	p.R274C	LQLFPRSCSPPRRFEPCSSSYLPLR	LQLFPRSCSPPRCFEPCSSSYLPLR	1.0	2.0	-	-	4149_1:152732884-152732884 C>T_LQLFPRSCSPPRCFEPCSSSYLPLR
7:5103608-5103608 G>A	0.0	4149	OVARIAN	-	-	-	-	RBAK	ENST00000353796,p.G174E|ENST00000396912,p.G174E|uc003sns.1,p.G174E|uc031swl.1,p.G138E|NM_001204456,p.G174E|uc010kss.1,p.G174E|NM_021163,p.G174E	retained_intron, protein_coding, processed_transcript	uc031swl.1	nonsynonymous SNV	exon3	c.G413A	p.G138E	PDECNECGKTYHGEKMCEFNQNGDT	PDECNECGKTYHEEKMCEFNQNGDT	6.0	3.0	-	-	4149_7:5103608-5103608 G>A_PDECNECGKTYHEEKMCEFNQNGDT
19:51958826-51958826 G>T	0.0	4149	OVARIAN	-	-	-	-	SIGLEC8	uc002pwt.3,p.S299R|uc010eox.2,p.S206R|uc010yda.2,p.S190R|ENST00000340550,p.S206R|ENST00000430817,p.S190R|NM_014442,p.S299R|ENST00000321424,p.S299R	retained_intron, protein_coding	uc010yda.2	nonsynonymous SNV	exon2	c.C570A	p.S190R	SNPPARLSWTRGSLTLCPSRSSNPG	SNPPARLSWTRGRLTLCPSRSSNPG	1.0	9.0	-	-	4149_19:51958826-51958826 G>T_SNPPARLSWTRGRLTLCPSRSSNPG
2:27800388-27800388 G>C	0.0	4149	OVARIAN	-	-	-	-	C2orf16	uc002rkz.4,p.E317Q|ENST00000408964,p.E317Q|NM_032266,p.E317Q	protein_coding	uc002rkz.4	nonsynonymous SNV	exon1	c.G949C	p.E317Q	AERSPRLCPQNLECVEVISEKRLQG	AERSPRLCPQNLQCVEVISEKRLQG	1.0	1.0	-	-	4149_2:27800388-27800388 G>C_AERSPRLCPQNLQCVEVISEKRLQG
17:11532759-11532759 T>C	0.0	4149	OVARIAN	-	-	-	-	DNAH9	NM_001372,p.F459S|ENST00000454412,p.F459S|ENST00000262442,p.F459S|uc002gne.3,p.F459S	retained_intron, protein_coding, processed_transcript	uc002gne.3	nonsynonymous SNV	exon7	c.T1376C	p.F459S	HVVEGLLKTALDFHKLGKVEFSGVR	HVVEGLLKTALDSHKLGKVEFSGVR	9.0	6.0	-	-	4149_17:11532759-11532759 T>C_HVVEGLLKTALDSHKLGKVEFSGVR
2:179444754-179444754 C>G	0.0	4149	OVARIAN	-	-	-	-	TTN	ENST00000342992,p.E19852D|uc021vsz.2,p.E13547D|uc021vtb.2,p.E13355D|ENST00000591111,p.E20779D|ENST00000359218,p.E13480D|NM_003319,p.E13355D|uc031rqd.1,p.E20779D|uc021vta.2,p.E13480D|NM_133437,p.E13547D|ENST00000460472,p.E13355D|uc031rqc.1,p.E22420D|NM_133432,p.E13480D|NM_001256850,p.E20779D|uc021vsy.2,p.E19852D|NM_001267550,p.E22420D|NM_133378,p.E19852D|ENST00000589042,p.E22420D|ENST00000342175,p.E13547D	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon268	c.G62337C	p.E20779D	CSKTSFRVANLEEGKSYFFRVFAEN	CSKTSFRVANLEDGKSYFFRVFAEN	1.0	1.0	-	-	4149_2:179444754-179444754 C>G_CSKTSFRVANLEDGKSYFFRVFAEN
7:21469240-21469240 G>A	0.0	4149	OVARIAN	-	-	-	-	SP4	uc003sva.3,p.V153I|ENST00000222584,p.V153I|NM_003112,p.V153I	retained_intron, protein_coding, nonsense_mediated_decay	uc003sva.3	nonsynonymous SNV	exon3	c.G457A	p.V153I	KSGNSSTPGQFQVIQVQNPSGSVQY	KSGNSSTPGQFQIIQVQNPSGSVQY	4.0	1.0	-	-	4149_7:21469240-21469240 G>A_KSGNSSTPGQFQIIQVQNPSGSVQY
14:39796122-39796122 A>T	0.0	4149	OVARIAN	-	-	-	-	CTAGE5	ENST00000396158,p.E581V|uc010amz.3,p.E192V|uc001wva.4,p.E547V|NM_005930,p.E576V|ENST00000348007,p.E533V|ENST00000556148,p.E501V|uc001wvh.4,p.E533V|NM_203354,p.E564V|ENST00000280083,p.E576V|ENST00000553728,p.E1111V|ENST00000341749,p.E564V|ENST00000341502,p.E576V|uc001wuy.4,p.E496V|NM_203355,p.E533V|uc001wvc.4,p.E478V|NM_001247988,p.E504V|uc001wvg.4,p.E576V|ENST00000396165,p.E547V|ENST00000603904,p.E547V|uc001wvb.4,p.E504V|NM_203356,p.E547V|uc001wvj.4,p.E547V|uc001wvf.4,p.E501V|uc001wvi.4,p.E581V|uc001wuz.4,p.E564V|ENST00000557038,p.E496V|uc010tqe.1,p.E538V|ENST00000553352,p.E547V|NM_001247989,p.E581V|NM_001247990,p.E501V	protein_coding, processed_transcript	uc010tqe.1	nonsynonymous SNV	exon19	c.A1613T	p.E538V	NPLDHQITNERGESSCDRLTDPHRA	NPLDHQITNERGVSSCDRLTDPHRA	8.0	8.0	-	-	4149_14:39796122-39796122 A>T_NPLDHQITNERGVSSCDRLTDPHRA
11:34378964-34378964 C>A	0.0	4149	OVARIAN	-	-	-	-	ABTB2	uc001mvl.2,p.C56F|NM_145804,p.C56F|ENST00000435224,p.C56F	protein_coding, processed_transcript	uc001mvl.2	nonsynonymous SNV	exon1	c.G167T	p.C56F	SSAQQHRGAAWWCYSGSMNSRHNSW	SSAQQHRGAAWWFYSGSMNSRHNSW	1.0	4.0	-	-	4149_11:34378964-34378964 C>A_SSAQQHRGAAWWFYSGSMNSRHNSW
9:14801809-14801809 G>A	0.0	4149	OVARIAN	-	-	-	-	FREM1	ENST00000380875,p.P1179S|uc003zlm.3,p.P1179S|ENST00000380880,p.P1179S|NM_144966,p.P1179S|ENST00000380881,p.P1180S|ENST00000422223,p.P1179S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zlm.3	nonsynonymous SNV	exon21	c.C3535T	p.P1179S	DSSIISAVDLDIPQDALLFSITQKP	DSSIISAVDLDISQDALLFSITQKP	3.0	8.0	-	-	4149_9:14801809-14801809 G>A_DSSIISAVDLDISQDALLFSITQKP
6:33641461-33641461 G>C	0.0	4149	OVARIAN	-	-	-	-	ITPR3	ENST00000374316,p.G1008R|NM_002224,p.G1008R|uc021ywr.1,p.G1008R|ENST00000605930,p.G1008R	protein_coding	uc021ywr.1	nonsynonymous SNV	exon23	c.G3022C	p.G1008R	KEFVEVFPMQDSGADGTAPAFDSTT	KEFVEVFPMQDSRADGTAPAFDSTT	5.0	2.0	-	-	4149_6:33641461-33641461 G>C_KEFVEVFPMQDSRADGTAPAFDSTT
15:24921210-24921210 G>A	0.0	4149	OVARIAN	-	-	-	-	NPAP1	uc001ywo.3,p.V66I|NM_018958,p.V66I|ENST00000329468,p.V66I	protein_coding	uc001ywo.3	nonsynonymous SNV	exon1	c.G196A	p.V66I	NARRRPSAASIFVAPKRPCPLPRAA	NARRRPSAASIFIAPKRPCPLPRAA	1.0	4.0	-	-	4149_15:24921210-24921210 G>A_NARRRPSAASIFIAPKRPCPLPRAA
6:42796870-42796870 G>C	0.0	4149	OVARIAN	-	-	-	-	GLTSCR1L	NM_015349,p.G267R|uc003osn.1,p.G267R|ENST00000394168,p.G267R|uc003osm.1,p.G267R|uc003osp.1,p.G267R|ENST00000314073,p.G267R|uc011duw.1,p.G267R|uc003oso.1,p.G267R	protein_coding	uc011duw.1	nonsynonymous SNV	exon5	c.G799C	p.G267R	VHRQTPNGNSLFGNSSSSPVAQPVT	VHRQTPNGNSLFRNSSSSPVAQPVT	6.0	3.0	-	-	4149_6:42796870-42796870 G>C_VHRQTPNGNSLFRNSSSSPVAQPVT
11:1077689-1077689 T>A	0.0	4149	OVARIAN	-	-	-	-	MUC2	NM_002457,p.W147R|uc001lsx.1,p.W147R|ENST00000441003,p.W147R|ENST00000359061,p.W147R	protein_coding	uc001lsx.1	nonsynonymous SNV	exon3	c.T439A	p.W147R	TKVYSRAGLTLMWNREDALMLELDT	TKVYSRAGLTLMRNREDALMLELDT	1.0	4.0	unscreened	-	4149_11:1077689-1077689 T>A_TKVYSRAGLTLMRNREDALMLELDT
3:44283619-44283619 G>A	0.0	4149	OVARIAN	-	-	-	-	TOPAZ1	NM_001145030,p.R25Q|ENST00000309765,p.R25Q|uc003cna.4,p.R25Q	protein_coding	uc003cna.4	nonsynonymous SNV	exon1	c.G74A	p.R25Q	SGPEGNVRNLQKRQAPGPGAAGGCG	SGPEGNVRNLQKQQAPGPGAAGGCG	1.0	9.0	-	-	4149_3:44283619-44283619 G>A_SGPEGNVRNLQKQQAPGPGAAGGCG
12:81799680-81799680 A>C	0.0	4149	OVARIAN	-	-	-	-	PPFIA2	NM_001282536,p.I63M|uc031qir.1,p.I216M|uc031qiy.1,p.I216M|NM_001220473,p.I216M|ENST00000549396,p.I216M|NM_003625,p.I216M|ENST00000552948,p.I216M|uc031qip.1,p.I216M|ENST00000549325,p.I198M|NM_001220475,p.I216M|ENST00000550359,p.I63M|ENST00000333447,p.I198M|uc031qim.1,p.I216M|uc031qik.1,p.I142M|uc010sue.2,p.I116M|uc031qiw.1,p.I216M|NM_001220474,p.I198M|ENST00000550584,p.I216M|uc031qin.1,p.I198M|uc031qis.1,p.I216M|uc031qio.1,p.I216M|NM_001220476,p.I216M|ENST00000407050,p.I142M|uc031qiq.1,p.I198M|NM_001220477,p.I142M|ENST00000548586,p.I216M|uc031qix.1,p.I216M|uc031qiu.1,p.I142M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qiy.1	nonsynonymous SNV	exon6	c.T648G	p.I216M	ALEEELAAANQEIVALREQNVHIQR	ALEEELAAANQEMVALREQNVHIQR	1.0	3.0	-	-	4149_12:81799680-81799680 A>C_ALEEELAAANQEMVALREQNVHIQR
15:78486915-78486915 T>A	0.0	4149	OVARIAN	-	-	-	-	ACSBG1	ENST00000559114,p.K22M|ENST00000558130,p.K129M|uc002bdh.3,p.K129M|NM_001199377,p.K129M|NM_015162,p.K129M|ENST00000559241,p.K137M|uc010umy.2,p.K22M|uc010umw.2,p.K129M|ENST00000258873,p.K129M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010umy.2	nonsynonymous SNV	exon2	c.A65T	p.K22M	GDLIALGFKRQDKWEHISYSQYYLL	GDLIALGFKRQDMWEHISYSQYYLL	3.0	4.0	-	-	4149_15:78486915-78486915 T>A_GDLIALGFKRQDMWEHISYSQYYLL
12:129558455-129558455 G>T	0.0	4149	OVARIAN	-	-	-	-	TMEM132D	uc009zyl.1,p.H1089N|ENST00000389441,p.H627N|ENST00000422113,p.H1089N|uc001uia.2,p.H627N|NM_133448,p.H1089N	protein_coding	uc009zyl.1	nonsynonymous SNV	exon9	c.C3265A	p.H1089N	CQDLDPGDCKELHNYMERLHENV	CQDLDPGDCKELNNYMERLHENV	1.0	6.0	-	-	4149_12:129558455-129558455 G>T_CQDLDPGDCKELNNYMERLHENV
13:46170870-46170870 G>C	0.0	4149	OVARIAN	-	-	-	-	ERICH6B	NM_182542,p.H91D|uc001vam.1,p.H91D|uc001val.2,p.H91D|ENST00000298738,p.H91D	retained_intron, protein_coding, processed_transcript	uc001vam.1	nonsynonymous SNV	exon2	c.C271G	p.H91D	YLKEEEYLGKEEHLEEEEYLEKAGY	YLKEEEYLGKEEDLEEEEYLEKAGY	1.0	2.0	unscreened	-	4149_13:46170870-46170870 G>C_YLKEEEYLGKEEDLEEEEYLEKAGY
12:81799680-81799680 A>C	0.0	4149	OVARIAN	-	-	-	-	PPFIA2	uc031qil.1,p.I117M|ENST00000443686,p.I117M|uc031qiv.1,p.I117M|NM_001220478,p.I117M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qiv.1	nonsynonymous SNV	exon4	c.T351G	p.I117M	SLFEHHKALDEKIVALREQNVHIQR	SLFEHHKALDEKMVALREQNVHIQR	1.0	3.0	unscreened	-	4149_12:81799680-81799680 A>C_SLFEHHKALDEKMVALREQNVHIQR
X:135429017-135429017 ->CTCAAATCTATC	0.0	4149	OVARIAN	-	-	-	-	GPR112	uc010nsc.1,p.V818delinsVSNLS|uc004ezu.1,p.V1051delinsVSNLS|ENST00000287534,p.V988delinsVSNLS|NM_153834,p.V1051delinsVSNLS|ENST00000370652,p.V1051delinsVSNLS|ENST00000394143,p.V1051delinsVSNLS|uc010nsb.1,p.V846delinsVSNLS|ENST00000394141,p.V846delinsVSNLS|ENST00000412101,p.V846delinsVSNLS	protein_coding	uc010nsc.1	nonframeshift insertion	exon1	c.2453_2454insCTCAAATCTATC	p.V818delinsVSNLS	LARAFSTSVLSDVSNLSSTTMTTAL	LARAFSTSVLSDVSNLSSNLSSTTM	1.0	4.0	unscreened	-	4149_X:135429017-135429017 ->CTCAAATCTATC_LARAFSTSVLSDVSNLSSNLSSTTM
3:171406516-171406516 C>T	0.0	4149	OVARIAN	-	-	-	-	PLD1	uc003fhs.3,p.V497M|uc003fht.3,p.V497M|NM_002662,p.V497M|ENST00000342215,p.V497M|NM_001130081,p.V497M|ENST00000340989,p.V497M|ENST00000351298,p.V497M|ENST00000356327,p.V497M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003fht.3	nonsynonymous SNV	exon14	c.G1489A	p.V497M	GRWDDNEHRLTDVGSVKRVTSGPSL	GRWDDNEHRLTDMGSVKRVTSGPSL	5.0	7.0	-	-	4149_3:171406516-171406516 C>T_GRWDDNEHRLTDMGSVKRVTSGPSL
4:119951156-119951156 T>A	0.0	4149	OVARIAN	-	-	-	-	SYNPO2	NM_001128934,p.L409Q|ENST00000429713,p.L409Q|uc003icm.4,p.L409Q|ENST00000307142,p.L409Q|ENST00000434046,p.L409Q|uc010inb.3,p.L409Q|uc010ina.3,p.L409Q|NM_001128933,p.L409Q|NM_001286754,p.L378Q|uc010inc.3,p.L337Q|NM_133477,p.L409Q	protein_coding	uc010inc.3	nonsynonymous SNV	exon3	c.T1010A	p.L337Q	FKKRRRRARKYTLVSYGTGELEREA	FKKRRRRARKYTQVSYGTGELEREA	4.0	5.0	-	-	4149_4:119951156-119951156 T>A_FKKRRRRARKYTQVSYGTGELEREA
6:69703688-69703688 G>A	0.0	4149	OVARIAN	-	-	ID=COSM230591;OCCURENCE=1(skin)	-	BAI3	uc003pev.4,p.R588Q|uc010kak.3,p.R588Q|NM_001704,p.R588Q|ENST00000370598,p.R588Q	protein_coding	uc010kak.3	nonsynonymous SNV	exon10	c.G1763A	p.R588Q	QHSIKEHLAKGQRMLAGDGMSQVTK	QHSIKEHLAKGQQMLAGDGMSQVTK	2.0	5.0	-	-	4149_6:69703688-69703688 G>A_QHSIKEHLAKGQQMLAGDGMSQVTK
8:65493597-65493597 G>T	0.0	4149	OVARIAN	-	-	-	-	BHLHE22	NM_152414,p.G84C|uc003xvi.3,p.G84C|ENST00000321870,p.G84C	protein_coding	uc003xvi.3	nonsynonymous SNV	exon1	c.G250T	p.G84C	GAGLLLPPPGGGGGGSAGSGGGGGG	GAGLLLPPPGGGCGGSAGSGGGGGG	3.0	6.0	-	-	4149_8:65493597-65493597 G>T_GAGLLLPPPGGGCGGSAGSGGGGGG
17:16981361-16981361 G>A	1.0	4155	MELANOMA	-	-	-	-	MPRIP	NM_015134,p.G80S|ENST00000577514,p.G80S|ENST00000395804,p.G80S|uc002gqu.2,p.G80S|ENST00000444976,p.G80S|ENST00000341712,p.G80S|ENST00000395811,p.G80S|uc002gqv.2,p.G80S|NM_201274,p.G80S	retained_intron, protein_coding, processed_transcript	uc002gqv.2	nonsynonymous SNV	exon3	c.G238A	p.G80S	KWQRRFFILYEHGLLRYALDEMPTT	KWQRRFFILYEHSLLRYALDEMPTT	10.0	8.0	-	-	4155_17:16981361-16981361 G>A_KWQRRFFILYEHSLLRYALDEMPTT
5:148624540-148624540 C>T	1.0	4155	MELANOMA	-	-	-	-	ABLIM3	ENST00000309868,p.S483L|uc003lqb.3,p.S372L|uc003lpy.2,p.S483L|NM_014945,p.S483L|ENST00000508983,p.S450L|uc003lqe.1,p.S372L|uc003lqc.1,p.S450L|uc003lqd.1,p.S388L|uc003lpz.1,p.S483L|NM_001301028,p.S372L|NM_001301027,p.S380L|NM_001301015,p.S483L|ENST00000504238,p.S372L|uc003lqf.3,p.S372L|NM_001301018,p.S450L|ENST00000326685,p.S388L|ENST00000356541,p.S372L|ENST00000506113,p.S483L|uc003lqa.1,p.S380L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003lqf.3	nonsynonymous SNV	exon11	c.C1115T	p.S372L	YSPIYSPDPYYASESEYWTYHGSPK	YSPIYSPDPYYALESEYWTYHGSPK	7.0	10.0	-	-	4155_5:148624540-148624540 C>T_YSPIYSPDPYYALESEYWTYHGSPK
12:46244291-46244291 T>-	1.0	4155	MELANOMA	-	-	-	1	ARID2	NM_152641,p.A795fs|ENST00000422737,p.A646fs|uc001ros.1,p.A795fs|ENST00000444670,p.A405fs|uc001ror.3,p.A795fs|uc001rou.1,p.A129fs|uc009zkg.1,p.A251fs|uc009zkh.1,p.A422fs|ENST00000334344,p.A795fs	retained_intron, protein_coding, processed_transcript	uc009zkh.1	frameshift deletion	exon7	c.1266delT	p.A422fs	IPSGTPVTVIQQAVPQSHMFGRVQN	IPSGTPVTVIQQASHRVICLAEYRTYQHVLLQFHRVNS	7.0	6.0	-	-	4155_12:46244291-46244291 T>-_IPSGTPVTVIQQASHRVICLAEYRTYQHVLLQFHRVNS
17:80045674-80045674 G>A	1.0	4155	MELANOMA	-	-	-	-	FASN	NM_004104,p.P977L|uc002kdw.1,p.P193L|ENST00000306749,p.P977L|uc002kdu.3,p.P977L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kdw.1	nonsynonymous SNV	exon5	c.C578T	p.P193L	DPRLFDHPESPTPNPTEPLFLAQAE	DPRLFDHPESPTLNPTEPLFLAQAE	9.0	9.0	-	-	4155_17:80045674-80045674 G>A_DPRLFDHPESPTLNPTEPLFLAQAE
16:11931910-11931910 G>A	1.0	4155	MELANOMA	-	-	-	-	RSL1D1	ENST00000355674,p.R402C|NM_015659,p.R403C|uc010buv.1,p.R402C|ENST00000542106,p.R183C|ENST00000571133,p.R403C|uc002dbp.1,p.R403C|uc010uyw.1,p.R183C	retained_intron, protein_coding, nonsense_mediated_decay	uc010uyw.1	nonsynonymous SNV	exon8	c.C547T	p.R183C	KSPAKSPNPSTPRGKKRKALPASET	KSPAKSPNPSTPCGKKRKALPASET	10.0	7.0	CD8	-	4155_16:11931910-11931910 G>A_KSPAKSPNPSTPCGKKRKALPASET
20:55982669-55982669 C>T	1.0	4155	MELANOMA	-	-	-	-	RBM38	ENST00000356208,p.P163S|ENST00000371219,p.P82S|NM_017495,p.P163S|NM_001291780,p.P195S|uc010zzj.2,p.P163S	protein_coding, nonsense_mediated_decay	uc010zzj.2	nonsynonymous SNV	exon4	c.C487T	p.P163S	VQPSVVIPAAPVPSLSSPYIEYTPA	VQPSVVIPAAPVSSLSSPYIEYTPA	6.0	8.0	-	-	4155_20:55982669-55982669 C>T_VQPSVVIPAAPVSSLSSPYIEYTPA
11:117093932-117093932 G>A	1.0	4155	MELANOMA	-	-	-	-	PCSK7	NM_004716,p.R383W|ENST00000540028,p.R24W|uc001pqr.3,p.R383W|ENST00000320934,p.R383W	retained_intron, protein_coding, processed_transcript	uc001pqr.3	nonsynonymous SNV	exon9	c.C1147T	p.R383W	LAVTFSGGDKMLRSIVTTDWDLQKG	LAVTFSGGDKMLWSIVTTDWDLQKG	9.0	6.0	-	-	4155_11:117093932-117093932 G>A_LAVTFSGGDKMLWSIVTTDWDLQKG
6:38120029-38120029 T>C	1.0	4155	MELANOMA	-	-	-	-	ZFAND3	uc003onx.3,p.L183S|ENST00000287218,p.L183S|NM_021943,p.L183S|ENST00000373391,p.L161S	protein_coding, processed_transcript	uc003onx.3	nonsynonymous SNV	exon6	c.T548C	p.L183S	LGSCRCGYVFCMLHRLPEQHDCTFD	LGSCRCGYVFCMSHRLPEQHDCTFD	9.0	3.0	-	-	4155_6:38120029-38120029 T>C_LGSCRCGYVFCMSHRLPEQHDCTFD
13:78475284-78475284 G>A	0.0	4155	MELANOMA	-	-	-	-	EDNRB	NM_000115,p.A287V|ENST00000446573,p.A287V|ENST00000377211,p.A377V|NM_003991,p.A287V|uc010aez.1,p.A287V|uc001vko.2,p.A287V|uc001vkp.1,p.A377V|ENST00000334286,p.A287V|uc001vkq.1,p.A287V|NM_001122659,p.A287V|NM_001201397,p.A377V	protein_coding, processed_transcript	uc010aez.1	nonsynonymous SNV	exon4	c.C860T	p.A287V	WWLFSFYFCLPLAITAFFYTLMTCE	WWLFSFYFCLPLVITAFFYTLMTCE	8.0	4.0	CD8	-	4155_13:78475284-78475284 G>A_WWLFSFYFCLPLVITAFFYTLMTCE
16:29908238-29908238 G>A	1.0	4155	MELANOMA	-	-	ID=COSM137638;OCCURENCE=1(skin)	-	SEZ6L2	uc002dus.4,p.S139F|ENST00000346932,p.S139F|NM_001114100,p.S139F|ENST00000537485,p.S95F|ENST00000308713,p.S139F|uc010vec.2,p.S139F|NM_001243332,p.S139F|uc010ved.2,p.S95F|NM_001243333,p.S95F|uc002duq.4,p.S139F|NM_201575,p.S139F	retained_intron, protein_coding, processed_transcript	uc010ved.2	nonsynonymous SNV	exon2	c.C284T	p.S95F	PGTTAPPPPSPASPGPPLGPEGGEE	PGTTAPPPPSPAFPGPPLGPEGGEE	9.0	9.0	-	-	4155_16:29908238-29908238 G>A_PGTTAPPPPSPAFPGPPLGPEGGEE
11:61607893-61607893 C>T	0.0	4155	MELANOMA	-	-	-	-	FADS2	uc010rlo.1,p.L105F|ENST00000278840,p.L136F|NM_001281502,p.L105F|uc001nsk.3,p.L136F|uc001nsl.1,p.L136F|uc001nsj.2,p.L114F|NM_004265,p.L136F|ENST00000521849,p.L136F|ENST00000518606,p.L14F|NM_001281501,p.L114F|ENST00000522056,p.L105F|ENST00000257261,p.L114F|ENST00000517312,p.L14F	retained_intron, protein_coding	uc010rlo.1	nonsynonymous SNV	exon3	c.C313T	p.L105F	NLFKTNHVFFLLLLAHIIALESIAW	NLFKTNHVFFLLFLAHIIALESIAW	7.0	8.0	-	-	4155_11:61607893-61607893 C>T_NLFKTNHVFFLLFLAHIIALESIAW
5:170610362-170610362 C>T	0.0	4155	MELANOMA	-	-	-	-	RANBP17	uc003mbc.3,p.H19Y|NM_022897,p.H656Y|uc003mba.3,p.H656Y|ENST00000523189,p.H656Y|uc003mbd.3,p.H19Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003mbd.3	nonsynonymous SNV	exon2	c.C55T	p.H19Y	SEHFPFLGISDNHSLSDFRCRTTFY	SEHFPFLGISDNYSLSDFRCRTTFY	6.0	10.0	-	-	4155_5:170610362-170610362 C>T_SEHFPFLGISDNYSLSDFRCRTTFY
3:20168983-20168983 C>T	0.0	4155	MELANOMA	-	-	-	-	KAT2B	NM_003884,p.P564L|ENST00000263754,p.P564L|uc003cbq.3,p.P564L	retained_intron, protein_coding, processed_transcript	uc003cbq.3	nonsynonymous SNV	exon11	c.C1691T	p.P564L	GRVIGGICFRMFPSQGFTEIVFCAV	GRVIGGICFRMFLSQGFTEIVFCAV	7.0	6.0	-	-	4155_3:20168983-20168983 C>T_GRVIGGICFRMFLSQGFTEIVFCAV
8:42012239-42012239 G>A	1.0	4155	MELANOMA	-	-	-	-	AP3M2	uc003xop.3,p.G12R|NM_006803,p.G12R|uc003xoo.3,p.G12R|ENST00000517865,p.G12R|ENST00000518421,p.G12R|ENST00000522288,p.G12R|NM_001134296,p.G12R|ENST00000174653,p.G12R|ENST00000517922,p.G12R|ENST00000530375,p.G12R|ENST00000396926,p.G12R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xop.3	nonsynonymous SNV	exon3	c.G34A	p.G12R	MIHSLFLINSSGDIFLEKHWKSVV	MIHSLFLINSSRDIFLEKHWKSVV	9.0	5.0	-	-	4155_8:42012239-42012239 G>A_MIHSLFLINSSRDIFLEKHWKSVV
8:142186723-142186723 C>T	0.0	4155	MELANOMA	-	-	-	-	DENND3	NM_014957,p.R777W|ENST00000519811,p.R857W|ENST00000424248,p.R725W|uc010mep.3,p.R738W|uc003yvy.3,p.R777W|ENST00000262585,p.R777W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010mep.3	nonsynonymous SNV	exon13	c.C2212T	p.R738W	EEVRRTTTTFLLRRIPTLKIRVASK	EEVRRTTTTFLLWRIPTLKIRVASK	5.0	4.0	-	-	4155_8:142186723-142186723 C>T_EEVRRTTTTFLLWRIPTLKIRVASK
20:34807689-34807689 G>A	1.0	4155	MELANOMA	-	-	-	-	EPB41L1	uc002xfb.3,p.G788R|ENST00000373941,p.G787R|uc002xew.3,p.G679R|uc002xeu.3,p.G686R|NM_012156,p.G788R|NM_001258330,p.G608R|NM_177996,p.G686R|uc002xey.3,p.G538R|ENST00000338074,p.G788R|ENST00000373946,p.G608R|NM_001258329,p.G787R|ENST00000454226,p.G149R|uc002xex.3,p.G608R|uc002xez.4,p.G686R|ENST00000373950,p.G679R|uc002xev.3,p.G787R|ENST00000202028,p.G686R|NM_001258331,p.G686R|ENST00000441639,p.G686R|uc010gfq.3,p.G886R	protein_coding, processed_transcript	uc010gfq.3	nonsynonymous SNV	exon9	c.G2656A	p.G886R	VATEIRSLSPIIGKDVLTSTYGATA	VATEIRSLSPIIRKDVLTSTYGATA	7.0	8.0	-	-	4155_20:34807689-34807689 G>A_VATEIRSLSPIIRKDVLTSTYGATA
2:74274555-74274555 C>T	1.0	4155	MELANOMA	-	-	ID=COSM1532528;OCCURENCE=1(lung)	-	TET3	uc010fez.3,p.S369F|ENST00000409262,p.S369F|uc002skb.5,p.S504F|NM_001287491,p.S504F|uc031roi.1,p.S369F|ENST00000305799,p.S411F	retained_intron, protein_coding	uc031roi.1	nonsynonymous SNV	exon1	c.C1106T	p.S369F	VEAPSSSPAPAPSPVLQREAPTPSS	VEAPSSSPAPAPFPVLQREAPTPSS	5.0	3.0	-	-	4155_2:74274555-74274555 C>T_VEAPSSSPAPAPFPVLQREAPTPSS
13:21563000-21563000 G>A	1.0	4155	MELANOMA	-	-	-	-	LATS2	NM_014572,p.P307S|ENST00000382592,p.P307S|uc001unr.4,p.P307S|ENST00000542899,p.P307S|uc009zzs.3,p.P307S	protein_coding, processed_transcript	uc009zzs.3	nonsynonymous SNV	exon4	c.C919T	p.P307S	GGPPGAGLAFPPPAAGLYVPHPHHK	GGPPGAGLAFPPSAAGLYVPHPHHK	5.0	4.0	-	-	4155_13:21563000-21563000 G>A_GGPPGAGLAFPPSAAGLYVPHPHHK
1:21582624-21582624 G>A	0.0	4155	MELANOMA	-	-	-	-	ECE1	ENST00000415912,p.T263I|ENST00000264205,p.T276I|uc001bej.2,p.T267I|NM_001397,p.T279I|uc001bek.2,p.T279I|ENST00000374893,p.T279I|NM_001113349,p.T276I|ENST00000357071,p.T267I|uc001bei.2,p.T276I|ENST00000436918,p.T279I|uc001bem.2,p.T263I|uc009vqa.1,p.T279I|uc010odl.1,p.T279I|NM_001113348,p.T263I|NM_001113347,p.T267I	retained_intron, protein_coding, processed_transcript	uc010odl.1	nonsynonymous SNV	exon8	c.C836T	p.T279I	YYLNKTENEKVLTGYLNYMVQLGKL	YYLNKTENEKVLIGYLNYMVQLGKL	7.0	9.0	-	-	4155_1:21582624-21582624 G>A_YYLNKTENEKVLIGYLNYMVQLGKL
1:48869544-48869544 G>A	0.0	4155	MELANOMA	-	-	-	-	SPATA6	NM_001286239,p.P125L|uc001crs.2,p.P139L|NM_001286238,p.P139L|uc001crr.2,p.P139L|ENST00000371847,p.P139L|ENST00000396199,p.P67L|uc010omv.2,p.P125L|ENST00000371843,p.P139L|NM_019073,p.P139L	protein_coding, processed_transcript	uc010omv.2	nonsynonymous SNV	exon5	c.C374T	p.P125L	TMRRISGLRGNAPRLEFSTTSVITE	TMRRISGLRGNALRLEFSTTSVITE	8.0	6.0	-	-	4155_1:48869544-48869544 G>A_TMRRISGLRGNALRLEFSTTSVITE
11:6578003-6578003 C>T	0.0	4155	MELANOMA	-	-	-	-	DNHD1	ENST00000527990,p.T2493M|ENST00000254579,p.T2493M|NM_144666,p.T2493M|uc001mdw.4,p.T2493M|uc001mdu.2,p.T15M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001mdw.4	nonsynonymous SNV	exon25	c.C7478T	p.T2493M	GTVYAHSTLELQTLQPTVNFLATVT	GTVYAHSTLELQMLQPTVNFLATVT	8.0	5.0	-	-	4155_11:6578003-6578003 C>T_GTVYAHSTLELQMLQPTVNFLATVT
6:90381953-90381953 G>A	1.0	4155	MELANOMA	-	-	-	-	MDN1	uc003pnn.1,p.S4587L|ENST00000369393,p.S4587L|NM_014611,p.S4587L|ENST00000428876,p.S4587L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003pnn.1	nonsynonymous SNV	exon82	c.C13760T	p.S4587L	ISAISELLERLKSYGEDGTAAKHLF	ISAISELLERLKLYGEDGTAAKHLF	9.0	2.0	-	-	4155_6:90381953-90381953 G>A_ISAISELLERLKLYGEDGTAAKHLF
19:9922308-9922308 G>A	0.0	4155	MELANOMA	-	-	ID=COSM1004383;OCCURENCE=1(endometrium)	-	FBXL12	uc002mmg.3,p.S29F|NM_017703,p.S82F|uc002mme.3,p.S82F|uc002mmd.3,p.S29F|ENST00000585379,p.S29F|ENST00000591009,p.S29F|ENST00000590277,p.S29F|ENST00000247977,p.S82F|uc002mmf.3,p.S29F	protein_coding, nonsense_mediated_decay	uc002mmg.3	nonsynonymous SNV	exon3	c.C86T	p.S29F	RLHSLRMGGYLFSGSQAPQLSPALL	RLHSLRMGGYLFFGSQAPQLSPALL	8.0	5.0	-	-	4155_19:9922308-9922308 G>A_RLHSLRMGGYLFFGSQAPQLSPALL
22:50944502-50944502 G>A	1.0	4155	MELANOMA	-	-	-	-	LMF2	uc003blo.2,p.P221S|uc003blp.2,p.P246S|NM_033200,p.P246S|ENST00000216080,p.P221S|ENST00000380796,p.P246S|ENST00000474879,p.P246S	retained_intron, protein_coding, processed_transcript	uc003blp.2	nonsynonymous SNV	exon5	c.C736T	p.P246S	LIEIAVPPLFFAPIRRLRLAAFYSQ	LIEIAVPPLFFASIRRLRLAAFYSQ	10.0	7.0	-	-	4155_22:50944502-50944502 G>A_LIEIAVPPLFFASIRRLRLAAFYSQ
1:146743910-146743910 C>T	1.0	4155	MELANOMA	-	-	-	-	CHD1L	uc009wji.4,p.P132L|ENST00000369258,p.P413L|uc001epn.5,p.P300L|NM_001256337,p.P132L|ENST00000361293,p.P132L|NM_001256336,p.P313L|uc010ozp.3,p.P132L|uc031pok.1,p.P313L|NM_024568,p.P300L|ENST00000369259,p.P209L|NM_001256338,p.P209L|uc001epo.5,p.P209L|NM_004284,p.P413L|uc001epm.5,p.P413L	protein_coding, processed_transcript	uc031pok.1	nonsynonymous SNV	exon11	c.C938T	p.P313L	ERHLAIKNFGQQPIFVFLLSTRAGG	ERHLAIKNFGQQLIFVFLLSTRAGG	9.0	5.0	-	-	4155_1:146743910-146743910 C>T_ERHLAIKNFGQQLIFVFLLSTRAGG
17:38324117-38324117 C>T	1.0	4155	MELANOMA	-	-	-	-	CASC3	uc010cwt.1,p.P556S|uc002hue.3,p.P556S|ENST00000264645,p.P556S|NM_007359,p.P556S	retained_intron, protein_coding, nonsense_mediated_decay	uc010cwt.1	nonsynonymous SNV	exon10	c.C1666T	p.P556S	EGHYYDPLQFQGPIYTHGDSPAPLP	EGHYYDPLQFQGSIYTHGDSPAPLP	8.0	7.0	-	-	4155_17:38324117-38324117 C>T_EGHYYDPLQFQGSIYTHGDSPAPLP
8:95523402-95523402 G>A	0.0	4155	MELANOMA	-	-	-	-	KIAA1429	NM_183009,p.P1134L|uc003ygp.3,p.P1134L|ENST00000421249,p.P1134L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ygp.3	nonsynonymous SNV	exon13	c.C3401T	p.P1134L	LPLPMQTTQVSLPYNMHLINDCSNT	LPLPMQTTQVSLLYNMHLINDCSNT	9.0	2.0	-	-	4155_8:95523402-95523402 G>A_LPLPMQTTQVSLLYNMHLINDCSNT
10:29752502-29752502 T>G	1.0	4155	MELANOMA	-	-	-	-	SVIL	NM_021738,p.N2066H|uc031ptq.1,p.N2034H|NM_003174,p.N1640H|uc010qdw.1,p.N980H|ENST00000375400,p.N1640H|ENST00000355867,p.N2066H|uc001iut.1,p.N2066H|ENST00000375398,p.N2066H|uc001iuu.1,p.N1640H|ENST00000535393,p.N980H	protein_coding, processed_transcript	uc031ptq.1	nonsynonymous SNV	exon31	c.A6100C	p.N2034H	EVYLWQGWWPIENKITGSARIRWAS	EVYLWQGWWPIEHKITGSARIRWAS	9.0	4.0	-	-	4155_10:29752502-29752502 T>G_EVYLWQGWWPIEHKITGSARIRWAS
12:56093741-56093741 C>T	1.0	4155	MELANOMA	-	-	-	-	ITGA7	ENST00000555728,p.D279N|ENST00000257880,p.D279N	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000555728	nonsynonymous SNV	exon6	c.G835A	p.D279N	FGLLFVTNIDSSDPDQLVYKTLDPA	FGLLFVTNIDSSNPDQLVYKTLDPA	10.0	9.0	unscreened	-	4155_12:56093741-56093741 C>T_FGLLFVTNIDSSNPDQLVYKTLDPA
12:56093741-56093741 C>T	1.0	4155	MELANOMA	-	-	-	-	ITGA7	ENST00000394229,p.D235N|ENST00000347027,p.D235N|ENST00000557257,p.D77N|uc001shg.3,p.D235N|ENST00000257879,p.D235N|NM_002206,p.D235N|uc009znx.3,p.D122N	retained_intron, protein_coding, nonsense_mediated_decay	uc009znx.3	nonsynonymous SNV	exon3	c.G364A	p.D122N	KGLLFVTNIDSSDPDQLVYKTLDPA	KGLLFVTNIDSSNPDQLVYKTLDPA	10.0	9.0	-	-	4155_12:56093741-56093741 C>T_KGLLFVTNIDSSNPDQLVYKTLDPA
15:51792054-51792054 T>C	0.0	4155	MELANOMA	-	-	-	-	DMXL2	uc002abf.3,p.I1123V|NM_001174116,p.I1123V|NM_015263,p.I1123V|ENST00000543779,p.I1123V|ENST00000251076,p.I1123V|uc010ufy.2,p.I1123V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ufy.2	nonsynonymous SNV	exon18	c.A3367G	p.I1123V	STGGSEWVLEQTIHLDDLVKVGSVL	STGGSEWVLEQTVHLDDLVKVGSVL	8.0	9.0	-	-	4155_15:51792054-51792054 T>C_STGGSEWVLEQTVHLDDLVKVGSVL
16:10631889-10631889 G>A	1.0	4155	MELANOMA	-	-	-	-	EMP2	ENST00000359543,p.S71F|ENST00000536829,p.S71F|uc002czx.3,p.S71F|NM_001424,p.S71F	retained_intron, protein_coding, processed_transcript	uc002czx.3	nonsynonymous SNV	exon4	c.C212T	p.S71F	STLQAVQATMILSTILCCIAFFIFV	STLQAVQATMILFTILCCIAFFIFV	9.0	2.0	-	-	4155_16:10631889-10631889 G>A_STLQAVQATMILFTILCCIAFFIFV
22:29916001-29916001 G>A	1.0	4155	MELANOMA	-	-	-	-	THOC5	uc003afu.3,p.P457L|ENST00000397871,p.P457L|uc003afr.3,p.P457L|NM_001002878,p.P457L|ENST00000490103,p.P457L|uc003afs.3,p.P457L|uc003afq.3,p.P118L|NM_001002877,p.P457L|ENST00000397872,p.P457L|NM_003678,p.P457L|ENST00000397873,p.P457L|uc003aft.3,p.P457L|NM_001002879,p.P457L	retained_intron, protein_coding, nonsense_mediated_decay	uc003afu.3	nonsynonymous SNV	exon14	c.C1370T	p.P457L	QKLGGLHFPKEQPQQTVIADHSLSA	QKLGGLHFPKEQLQQTVIADHSLSA	10.0	9.0	-	-	4155_22:29916001-29916001 G>A_QKLGGLHFPKEQLQQTVIADHSLSA
2:127808392-127808392 C>T	0.0	4155	MELANOMA	-	-	-	-	BIN1	uc010yzg.2,p.G397S|NM_139344,p.G477S|uc002tnx.2,p.G381S|NM_139346,p.G424S|NM_139348,p.G409S|uc002tns.2,p.G520S|uc002tnt.2,p.G336S|NM_139349,p.G402S|uc002tny.2,p.G433S|NM_139350,p.G366S|ENST00000346226,p.G445S|ENST00000259238,p.G424S|NM_139351,p.G336S|ENST00000376113,p.G351S|uc002toa.2,p.G409S|ENST00000393041,p.G402S|uc002tob.2,p.G366S|NM_139347,p.G445S|NM_139345,p.G433S|uc002tnv.2,p.G477S|ENST00000393040,p.G409S|uc002tnz.2,p.G445S|ENST00000352848,p.G381S|ENST00000351659,p.G433S|ENST00000316724,p.G520S|ENST00000409400,p.G366S|NM_004305,p.G381S|uc002tnw.2,p.G424S|uc010yzf.2,p.G312S|uc002toc.2,p.G402S|uc002tnu.2,p.G351S|NM_139343,p.G520S|ENST00000348750,p.G336S|ENST00000357970,p.G477S	retained_intron, protein_coding, processed_transcript	uc010yzg.2	nonsynonymous SNV	exon13	c.G1189A	p.G397S	GGSGAGRLDLPPGFMFKVQAQHDYT	GGSGAGRLDLPPSFMFKVQAQHDYT	6.0	5.0	-	-	4155_2:127808392-127808392 C>T_GGSGAGRLDLPPSFMFKVQAQHDYT
12:56092686-56092686 G>A	1.0	4155	MELANOMA	-	-	-	-	ITGA7	uc001shg.3,p.S269L|ENST00000555728,p.S313L|ENST00000257880,p.S313L|NM_002206,p.S269L|ENST00000347027,p.S269L|ENST00000557257,p.S111L|ENST00000257879,p.S269L|uc009znx.3,p.S156L|ENST00000394229,p.S269L	retained_intron, protein_coding, nonsense_mediated_decay	uc009znx.3	nonsynonymous SNV	exon4	c.C467T	p.S156L	LALNSYLGFSIDSGKGLVRAEELSF	LALNSYLGFSIDLGKGLVRAEELSF	10.0	9.0	-	-	4155_12:56092686-56092686 G>A_LALNSYLGFSIDLGKGLVRAEELSF
13:49772179-49772179 C>T	1.0	4155	MELANOMA	-	-	-	-	FNDC3A	ENST00000541916,p.S851L|ENST00000398316,p.S795L|uc001vcn.3,p.S851L|NM_001278438,p.S851L|uc001vcq.3,p.S795L|NM_014923,p.S795L|uc001vcm.3,p.S851L|ENST00000492622,p.S851L|NM_001079673,p.S851L	retained_intron, protein_coding, nonsense_mediated_decay	uc001vcq.3	nonsynonymous SNV	exon20	c.C2384T	p.S795L	PFSEVVACVTPPSVPGIVTCLQEIS	PFSEVVACVTPPLVPGIVTCLQEIS	7.0	3.0	-	-	4155_13:49772179-49772179 C>T_PFSEVVACVTPPLVPGIVTCLQEIS
21:34953633-34953633 C>T	0.0	4155	MELANOMA	-	-	-	-	DONSON	uc002ysi.1,p.R202Q|ENST00000303113,p.R428Q|uc002ysk.4,p.R442Q|uc002ysj.4,p.R75Q|uc002ysm.4,p.R442Q|NM_017613,p.R442Q|ENST00000303071,p.R442Q	retained_intron, protein_coding, nonsense_mediated_decay	uc002ysm.4	nonsynonymous SNV	exon11	c.G1325A	p.R442Q	GLPPTLLSPVAFRGATMQMLKARSV	GLPPTLLSPVAFQGATMQMLKARSV	6.0	4.0	-	-	4155_21:34953633-34953633 C>T_GLPPTLLSPVAFQGATMQMLKARSV
1:150445676-150445676 C>T	1.0	4155	MELANOMA	-	-	-	-	RPRD2	NM_001297674,p.R1392W|uc001eup.4,p.R1392W|NM_015203,p.R1418W|uc009wlr.3,p.R1418W|ENST00000369068,p.R1418W|ENST00000401000,p.R1392W	protein_coding, processed_transcript	uc009wlr.3	nonsynonymous SNV	exon11	c.C4252T	p.R1418W	TISRSGIILRSPRPDFRPREPFLSR	TISRSGIILRSPWPDFRPREPFLSR	6.0	7.0	-	-	4155_1:150445676-150445676 C>T_TISRSGIILRSPWPDFRPREPFLSR
12:112628755-112628755 G>A	0.0	4155	MELANOMA	-	-	-	-	HECTD4	ENST00000550722,p.P2957S|ENST00000430131,p.P2681S|uc021reb.1,p.P2969S|ENST00000377560,p.P2931S|NM_001109662,p.P2969S	retained_intron, protein_coding, processed_transcript	uc021reb.1	nonsynonymous SNV	exon60	c.C8905T	p.P2969S	DRVHIKLGVSPPPGAVLVLHSLPLE	DRVHIKLGVSPPSGAVLVLHSLPLE	8.0	9.0	-	-	4155_12:112628755-112628755 G>A_DRVHIKLGVSPPSGAVLVLHSLPLE
1:93089879-93089879 G>A	1.0	4155	MELANOMA	0.0005	-	-	-	EVI5	ENST00000540033,p.R545C|ENST00000370331,p.R545C|NM_005665,p.R545C|uc001dox.3,p.R545C|ENST00000543509,p.R556C|uc010otf.2,p.R556C	protein_coding, processed_transcript	uc010otf.2	nonsynonymous SNV	exon15	c.C1666T	p.R556C	KDLEEHWQRHLARTTGRWKDPPKKN	KDLEEHWQRHLACTTGRWKDPPKKN	9.0	7.0	-	-	4155_1:93089879-93089879 G>A_KDLEEHWQRHLACTTGRWKDPPKKN
1:235955383-235955383 T>C	1.0	4155	MELANOMA	-	-	-	-	LYST	uc001hxj.3,p.T1387A|ENST00000389793,p.T1387A|NM_001301365,p.T1387A|NM_000081,p.T1387A|uc001hxl.2,p.T1387A|ENST00000389794,p.T1387A	retained_intron, protein_coding, processed_transcript	uc001hxl.2	nonsynonymous SNV	exon12	c.A4159G	p.T1387A	LLLGILKIIESDTTMSPSQYLTFPL	LLLGILKIIESDATMSPSQYLTFPL	10.0	9.0	-	-	4155_1:235955383-235955383 T>C_LLLGILKIIESDATMSPSQYLTFPL
2:46203631-46203631 C>T	0.0	4155	MELANOMA	-	-	-	-	PRKCE	NM_005400,p.A159V|ENST00000306156,p.A159V|uc002rut.3,p.A159V	protein_coding, processed_transcript	uc002rut.3	nonsynonymous SNV	exon3	c.C476T	p.A159V	FRERMRPRKRQGAVRRRVHQVNGHK	FRERMRPRKRQGVVRRRVHQVNGHK	8.0	2.0	-	-	4155_2:46203631-46203631 C>T_FRERMRPRKRQGVVRRRVHQVNGHK
2:217498308-217498308 ->GCC	0.0	4155	MELANOMA	-	-	-	-	IGFBP2	NM_000597,p.L21delinsLP|uc021vwn.1,p.L21delinsLP|ENST00000233809,p.L21delinsLP|uc010zju.2,p.L21delinsLP	retained_intron, protein_coding	uc021vwn.1	nonframeshift insertion	exon1	c.62_63insGCC	p.L21delinsLP	ALPLPPPPLLPLLLLLLGASGGGGG	ALPLPPPPLLPLLPLLLLGASGGGG	7.0	1.0	unscreened	-	4155_2:217498308-217498308 ->GCC_ALPLPPPPLLPLLPLLLLGASGGGG
12:27152555-27152555 G>A	1.0	4155	MELANOMA	-	-	-	-	TM7SF3	ENST00000542019,p.P49L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000542019	nonsynonymous SNV	exon2	c.C146T	p.P49L	LGNRHCQWTGFHP	LGNRHCQWTGFHL	8.0	2.0	-	-	4155_12:27152555-27152555 G>A_LGNRHCQWTGFHL
1:179314167-179314167 G>T	0.0	4155	MELANOMA	-	-	-	-	SOAT1	ENST00000367619,p.S358I|ENST00000539888,p.S293I|uc010pnj.2,p.S94I|uc010pni.2,p.S293I|NM_001252511,p.S300I|NM_001252512,p.S293I|ENST00000535686,p.S94I|ENST00000540564,p.S300I|uc010pnk.2,p.S293I|NM_003101,p.S358I|uc001gmm.3,p.S300I|uc001gml.3,p.S358I	protein_coding	uc010pnk.2	nonsynonymous SNV	exon10	c.G878T	p.S293I	APLFRNIKQEPFSARVLVLCVFNSI	APLFRNIKQEPFIARVLVLCVFNSI	6.0	1.0	-	-	4155_1:179314167-179314167 G>T_APLFRNIKQEPFIARVLVLCVFNSI
12:404924-404924 G>A	1.0	4155	MELANOMA	-	-	-	1	KDM5A	ENST00000399788,p.P1424S|NM_001042603,p.P1424S|ENST00000382815,p.P1424S|uc001qif.1,p.P1424S	retained_intron, protein_coding, processed_transcript	uc001qif.1	nonsynonymous SNV	exon26	c.C4270T	p.P1424S	GSSTPRKQPRKSPLVPRSLEPPVLE	GSSTPRKQPRKSSLVPRSLEPPVLE	10.0	6.0	-	-	4155_12:404924-404924 G>A_GSSTPRKQPRKSSLVPRSLEPPVLE
12:56092686-56092686 G>A	1.0	4155	MELANOMA	-	-	-	-	ITGA7	ENST00000556273,p.S27L	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000556273	nonsynonymous SNV	exon3	c.C80T	p.S27L	EGFQCWRGFSIDSGKGLVRAEELSF	EGFQCWRGFSIDLGKGLVRAEELSF	10.0	9.0	-	-	4155_12:56092686-56092686 G>A_EGFQCWRGFSIDLGKGLVRAEELSF
1:228466935-228466935 G>T	0.0	4155	MELANOMA	-	-	-	-	OBSCN	uc009xez.2,p.A2396S|NM_001271223,p.A2825S|uc001hsq.2,p.A2825S|ENST00000366706,p.A244S|ENST00000422127,p.A2396S|ENST00000284548,p.A2396S|uc001hsp.2,p.A184S|ENST00000570156,p.A2825S|NM_001098623,p.A2396S|ENST00000359599,p.A1243S|uc001hsn.4,p.A2396S|NM_052843,p.A2396S	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon27	c.G7186T	p.A2396S	GLQDVTVMEPAPAWFECETSIPSVR	GLQDVTVMEPAPSWFECETSIPSVR	8.0	7.0	-	-	4155_1:228466935-228466935 G>T_GLQDVTVMEPAPSWFECETSIPSVR
19:12881825-12881825 C>T	1.0	4155	MELANOMA	-	-	-	-	HOOK2	NM_001100176,p.E275K|ENST00000592079,p.E202K|uc002muz.2,p.E275K|ENST00000397668,p.E275K|NM_013312,p.E275K|ENST00000589400,p.E202K|ENST00000264827,p.E275K|uc002muy.2,p.E275K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002muz.2	nonsynonymous SNV	exon10	c.G823A	p.E275K	RLRCAELEREVAELQHRNQALTSLA	RLRCAELEREVAKLQHRNQALTSLA	10.0	9.0	-	-	4155_19:12881825-12881825 C>T_RLRCAELEREVAKLQHRNQALTSLA
22:31331267-31331267 G>A	1.0	4155	MELANOMA	-	-	-	-	MORC2	uc003aje.1,p.P532S|ENST00000215862,p.P532S|NM_014941,p.P532S|ENST00000397641,p.P594S	retained_intron, protein_coding, processed_transcript	uc003aje.1	nonsynonymous SNV	exon19	c.C1594T	p.P532S	TPIRSQADLKKLPLEVTTRPSTEEP	TPIRSQADLKKLSLEVTTRPSTEEP	10.0	7.0	-	-	4155_22:31331267-31331267 G>A_TPIRSQADLKKLSLEVTTRPSTEEP
20:60898554-60898554 G>A	0.0	4155	MELANOMA	-	-	-	-	LAMA5	uc002ycq.3,p.P2008S|uc021wfw.1,p.P2008S|ENST00000252999,p.P2008S|NM_005560,p.P2008S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wfw.1	nonsynonymous SNV	exon45	c.C6022T	p.P2008S	RHTTGPRCEICAPGFYGNALLPGNC	RHTTGPRCEICASGFYGNALLPGNC	9.0	8.0	-	-	4155_20:60898554-60898554 G>A_RHTTGPRCEICASGFYGNALLPGNC
21:34953633-34953633 C>T	0.0	4155	MELANOMA	-	-	-	-	DONSON	ENST00000432378,p.R442Q	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000432378	nonsynonymous SNV	exon8	c.G1325A	p.R442Q	GLPPTLLSPVAFRGATMQMLKEVVH	GLPPTLLSPVAFQGATMQMLKEVVH	6.0	4.0	-	-	4155_21:34953633-34953633 C>T_GLPPTLLSPVAFQGATMQMLKEVVH
12:125436997-125436997 G>A	1.0	4155	MELANOMA	-	-	-	-	DHX37	NM_032656,p.R939C|uc001ugy.3,p.R939C|ENST00000308736,p.R939C|uc001ugz.1,p.R26C|ENST00000544745,p.R726C	retained_intron, protein_coding	uc001ugz.1	nonsynonymous SNV	exon1	c.C76T	p.R26C	QIVTAGLGDHLARRVQSEEMLEDKW	QIVTAGLGDHLACRVQSEEMLEDKW	7.0	2.0	-	-	4155_12:125436997-125436997 G>A_QIVTAGLGDHLACRVQSEEMLEDKW
6:7231244-7231244 C>T	1.0	4155	MELANOMA	-	-	-	-	RREB1	uc021ykz.1,p.P971L|NM_001003700,p.P971L|ENST00000379933,p.P971L|uc003mxc.3,p.P971L|NM_001003699,p.P971L|uc010jnx.3,p.P971L|uc021yky.1,p.P971L|ENST00000334984,p.P971L|ENST00000379938,p.P971L|uc003mxb.3,p.P971L|NM_001168344,p.P971L|ENST00000349384,p.P971L|NM_001003698,p.P971L	retained_intron, protein_coding, nonsense_mediated_decay	uc021ykz.1	nonsynonymous SNV	exon7	c.C2912T	p.P971L	PEEEAGSSEQPSPCPAPGPSLPVTL	PEEEAGSSEQPSLCPAPGPSLPVTL	6.0	4.0	-	-	4155_6:7231244-7231244 C>T_PEEEAGSSEQPSLCPAPGPSLPVTL
1:156128577-156128577 C>T	0.0	4155	MELANOMA	-	-	-	-	SEMA4A	NM_022367,p.P177L|NM_001193301,p.P177L|uc001fno.3,p.P177L|ENST00000368282,p.P177L|uc001fnn.3,p.P45L|ENST00000438830,p.P144L|ENST00000368285,p.P177L|uc009wrq.3,p.P177L|ENST00000368286,p.P45L|ENST00000435124,p.P177L|ENST00000355014,p.P177L|NM_001193300,p.P177L|uc001fnl.3,p.P177L|ENST00000368284,p.P45L|uc001fnm.3,p.P177L|ENST00000414683,p.P78L|NM_001193302,p.P45L	protein_coding, processed_transcript	uc009wrq.3	nonsynonymous SNV	exon6	c.C530T	p.P177L	SEDKVMEGKGQSPFDPAHKHTAVLV	SEDKVMEGKGQSLFDPAHKHTAVLV	7.0	4.0	-	-	4155_1:156128577-156128577 C>T_SEDKVMEGKGQSLFDPAHKHTAVLV
3:52960052-52960052 G>A	0.0	4155	MELANOMA	-	-	-	-	SFMBT1	uc010hmr.3,p.P323S|ENST00000358080,p.P376S|ENST00000394752,p.P376S|uc003dgh.3,p.P376S|NM_016329,p.P376S|ENST00000296295,p.P376S|ENST00000394750,p.P376S	retained_intron, protein_coding, processed_transcript	uc010hmr.3	nonsynonymous SNV	exon7	c.C967T	p.P323S	QCGAEAAPQRCFPPLISEHEFKENM	QCGAEAAPQRCFSPLISEHEFKENM	8.0	4.0	-	-	4155_3:52960052-52960052 G>A_QCGAEAAPQRCFSPLISEHEFKENM
15:72119195-72119195 G>A	1.0	4155	MELANOMA	-	-	-	-	MYO9A	ENST00000424560,p.P2529L|ENST00000444904,p.P2439L|uc002atl.5,p.P2458L|uc002atk.3,p.P1253L|NM_006901,p.P2458L|ENST00000356056,p.P2458L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002atl.5	nonsynonymous SNV	exon42	c.C7373T	p.P2458L	GTRKLFQIYSKSPFYRAASGNEALG	GTRKLFQIYSKSLFYRAASGNEALG	7.0	5.0	-	-	4155_15:72119195-72119195 G>A_GTRKLFQIYSKSLFYRAASGNEALG
2:48915389-48915389 G>A	0.0	4155	MELANOMA	-	-	-	-	LHCGR	ENST00000344775,p.P454L|uc002rwu.4,p.P516L|NM_000233,p.P516L|ENST00000294954,p.P516L|ENST00000405626,p.P489L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002rwu.4	nonsynonymous SNV	exon11	c.C1547T	p.P516L	GVSNYMKVSICFPMDVETTLSQVYI	GVSNYMKVSICFLMDVETTLSQVYI	1.0	3.0	unscreened	-	4155_2:48915389-48915389 G>A_GVSNYMKVSICFLMDVETTLSQVYI
1:169509856-169509856 G>A	0.0	4155	MELANOMA	-	-	-	-	F5	ENST00000367797,p.P1491L|ENST00000367796,p.P1496L|uc001ggg.1,p.P1491L|NM_000130,p.P1491L	protein_coding, processed_transcript	uc001ggg.1	nonsynonymous SNV	exon13	c.C4472T	p.P1491L	NESFPYPDLGQMPSPSSPTLNDTFL	NESFPYPDLGQMLSPSSPTLNDTFL	2.0	9.0	unscreened	-	4155_1:169509856-169509856 G>A_NESFPYPDLGQMLSPSSPTLNDTFL
2:39931334-39931334 C>T	0.0	4155	MELANOMA	-	-	-	-	TMEM178A	uc010fam.2,p.R172W	protein_coding, processed_transcript	uc010fam.2	nonsynonymous SNV	exon2	c.C514T	p.R172W	TKTIQQDEWHLLRIFCTISLCTYAA	TKTIQQDEWHLLWIFCTISLCTYAA	5.0	7.0	-	-	4155_2:39931334-39931334 C>T_TKTIQQDEWHLLWIFCTISLCTYAA
7:97487651-97487651 T>G	0.0	4155	MELANOMA	-	-	-	-	ASNS	NM_133436,p.Y281S|ENST00000454046,p.Y281S|uc003uou.4,p.Y281S|ENST00000455086,p.Y198S|ENST00000394309,p.Y281S|ENST00000394308,p.Y281S|ENST00000444334,p.Y260S|ENST00000422745,p.Y260S|uc003uov.4,p.Y281S|ENST00000175506,p.Y281S|uc003uox.4,p.Y198S|NM_001673,p.Y281S|uc011kin.2,p.Y198S|NM_001178077,p.Y198S|uc011kio.2,p.Y260S|NM_001178076,p.Y198S|NM_001178075,p.Y260S|ENST00000437628,p.Y198S|uc003uot.4,p.Y281S|NM_183356,p.Y281S	retained_intron, protein_coding, nonsense_mediated_decay	uc011kio.2	nonsynonymous SNV	exon7	c.A779C	p.Y260S	TLLKQLKEAQVQYPLQTFAIGMEDS	TLLKQLKEAQVQSPLQTFAIGMEDS	8.0	1.0	-	-	4155_7:97487651-97487651 T>G_TLLKQLKEAQVQSPLQTFAIGMEDS
8:76465427-76465427 G>A	0.0	4155	MELANOMA	-	-	-	-	HNF4G	uc003yar.3,p.D204N|ENST00000396423,p.D204N|NM_004133,p.D204N|ENST00000354370,p.D167N|uc003yaq.3,p.D167N	protein_coding, processed_transcript	uc003yar.3	nonsynonymous SNV	exon5	c.G610A	p.D204N	KYIPAFCELPLDDQVALLRAHAGEH	KYIPAFCELPLDNQVALLRAHAGEH	1.0	1.0	unscreened	-	4155_8:76465427-76465427 G>A_KYIPAFCELPLDNQVALLRAHAGEH
21:34953633-34953633 C>T	0.0	4155	MELANOMA	-	-	-	-	DONSON	ENST00000453626,p.R442Q	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000453626	nonsynonymous SNV	exon8	c.G1325A	p.R442Q	GLPPTLLSPVAFRGATMQMLKYCIH	GLPPTLLSPVAFQGATMQMLKYCIH	6.0	4.0	-	-	4155_21:34953633-34953633 C>T_GLPPTLLSPVAFQGATMQMLKYCIH
19:18994902-18994902 G>A	0.0	4155	MELANOMA	-	-	-	-	CERS1	uc010ebx.3,p.A97V|uc002nkj.3,p.A195V|NM_001290265,p.A97V|ENST00000542296,p.A97V|uc002nki.1,p.A195V|ENST00000427170,p.A195V|NM_198207,p.A195V|NM_021267,p.A195V|ENST00000429504,p.A195V	protein_coding	uc010ebx.3	nonsynonymous SNV	exon3	c.C290T	p.A97V	HVVTLILIVSSYAFRYHNVGILVLF	HVVTLILIVSSYVFRYHNVGILVLF	7.0	3.0	-	-	4155_19:18994902-18994902 G>A_HVVTLILIVSSYVFRYHNVGILVLF
19:8595400-8595400 G>T	0.0	4155	MELANOMA	-	-	-	-	MYO1F	ENST00000338257,p.Q701K|uc002mkg.3,p.Q701K|NM_012335,p.Q701K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkg.3	nonsynonymous SNV	exon20	c.C2101A	p.Q701K	RERKFDGFARTIQKAWRRHVAVRKY	RERKFDGFARTIKKAWRRHVAVRKY	6.0	9.0	unscreened	-	4155_19:8595400-8595400 G>T_RERKFDGFARTIKKAWRRHVAVRKY
7:127253112-127253112 G>A	0.0	4155	MELANOMA	-	-	-	-	PAX4	ENST00000338516,p.R227W	retained_intron, protein_coding	ENST00000338516	nonsynonymous SNV	exon7	c.C679T	p.R227W	RVWFSNRRAKWRRQEKLKWEMQLPA	RVWFSNRRAKWRWQEKLKWEMQLPA	1.0	10.0	unscreened	-	4155_7:127253112-127253112 G>A_RVWFSNRRAKWRWQEKLKWEMQLPA
2:74460656-74460656 G>A	0.0	4155	MELANOMA	0.0027	-	-	-	SLC4A5	uc002skp.1,p.P721L|NM_021196,p.P823L|ENST00000394019,p.P823L|uc010ffc.1,p.P823L|uc002skn.3,p.P823L|ENST00000358683,p.P721L|ENST00000346834,p.P823L|uc002sks.1,p.P785L|uc002sko.1,p.P823L|ENST00000423644,p.P823L|ENST00000425249,p.P785L|ENST00000359484,p.P721L|ENST00000357822,p.P823L|ENST00000377634,p.P823L|ENST00000377632,p.P823L|NM_133478,p.P823L	retained_intron, protein_coding, processed_transcript	uc010ffc.1	nonsynonymous SNV	exon18	c.C2468T	p.P823L	KPTRPDRGWFVAPFGKNPWWVYPAS	KPTRPDRGWFVALFGKNPWWVYPAS	5.0	2.0	-	-	4155_2:74460656-74460656 G>A_KPTRPDRGWFVALFGKNPWWVYPAS
7:127253112-127253112 G>A	0.0	4155	MELANOMA	-	-	-	-	PAX4	ENST00000463946,p.R217W|uc003vmg.1,p.R219W|ENST00000341640,p.R219W|ENST00000378740,p.R219W|uc003vmh.3,p.R217W|uc003vmf.2,p.R217W|ENST00000483494,p.R217W|uc010lld.1,p.R219W|NM_006193,p.R219W	retained_intron, protein_coding	uc010lld.1	nonsynonymous SNV	exon6	c.C655T	p.R219W	RVWFSNRRAKWRRQEKLKWEMQLPG	RVWFSNRRAKWRWQEKLKWEMQLPG	1.0	10.0	unscreened	-	4155_7:127253112-127253112 G>A_RVWFSNRRAKWRWQEKLKWEMQLPG
X:23411716-23411716 C>T	0.0	4155	MELANOMA	-	-	-	-	PTCHD1	NM_173495,p.S694F|uc004dal.4,p.S694F|ENST00000379361,p.S694F	protein_coding	uc004dal.4	nonsynonymous SNV	exon3	c.C2081T	p.S694F	FNPSFVYMDRYASSLGAPLHNSCIS	FNPSFVYMDRYAFSLGAPLHNSCIS	1.0	10.0	unscreened	-	4155_X:23411716-23411716 C>T_FNPSFVYMDRYAFSLGAPLHNSCIS
19:49937945-49937945 C>T	0.0	4155	MELANOMA	-	-	-	-	SLC17A7	ENST00000600601,p.G117E|ENST00000543531,p.G172E|uc002pnq.1,p.G117E|ENST00000221485,p.G184E|NM_020309,p.G184E|uc002pnp.3,p.G184E	retained_intron, protein_coding, nonsense_mediated_decay	uc002pnq.1	nonsynonymous SNV	exon4	c.G350A	p.G117E	VIFVRILQGLVEGVTYPACHGIWSK	VIFVRILQGLVEEVTYPACHGIWSK	1.0	2.0	unscreened	-	4155_19:49937945-49937945 C>T_VIFVRILQGLVEEVTYPACHGIWSK
19:50169965-50169965 G>A	1.0	4155	MELANOMA	-	-	-	2	BCL2L12	uc031rlw.1,p.E90K|uc031rma.1,p.E90K|NM_001282521,p.E90K|ENST00000246785,p.E90K|uc031rmd.1,p.E90K|uc031rlv.1,p.E90K|NM_138639,p.E90K|NM_001282517,p.E90K|uc031rlz.1,p.E90K|NM_001282520,p.E90K|NM_001282516,p.E90K|ENST00000441864,p.E90K|NM_001040668,p.E90K|uc031rlu.1,p.E90K|uc031rmb.1,p.E90K|NM_001282519,p.E90K|uc002ppb.3,p.E90K|uc002ppa.3,p.E90K|ENST00000598306,p.E27K|ENST00000246784,p.E90K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rmd.1	nonsynonymous SNV	exon2	c.G268A	p.E90K	GPGPGASMAGSEELGLREDTLRVLA	GPGPGASMAGSEKLGLREDTLRVLA	8.0	6.0	-	-	4155_19:50169965-50169965 G>A_GPGPGASMAGSEKLGLREDTLRVLA
8:124357189-124357189 G>A	0.0	4155	MELANOMA	-	-	-	-	ATAD2	uc003yqj.3,p.P885S|ENST00000287394,p.P885S|NM_014109,p.P885S|uc003yqh.4,p.P885S|uc011lii.2,p.P676S|ENST00000521903,p.P203S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lii.2	nonsynonymous SNV	exon19	c.C2026T	p.P676S	LKATFTTLLQNIPSFAPVLLLATSD	LKATFTTLLQNISSFAPVLLLATSD	7.0	8.0	-	-	4155_8:124357189-124357189 G>A_LKATFTTLLQNISSFAPVLLLATSD
22:31663773-31663773 G>A	0.0	4155	MELANOMA	-	-	-	-	LIMK2	uc003akj.3,p.M359I|ENST00000333611,p.M359I|uc011aln.2,p.M297I|ENST00000340552,p.M359I|uc003aki.3,p.M134I|ENST00000331728,p.M380I|uc003akk.3,p.M359I|uc003akh.3,p.M380I|NM_001031801,p.M359I|NM_016733,p.M359I|ENST00000406516,p.M302I|ENST00000444929,p.M134I|NM_005569,p.M380I	retained_intron, protein_coding, processed_transcript	uc011aln.2	nonsynonymous SNV	exon9	c.G891A	p.M297I	ETQKTFLTEVKVMRSLDHPNVLKFI	ETQKTFLTEVKVIRSLDHPNVLKFI	7.0	8.0	unscreened	-	4155_22:31663773-31663773 G>A_ETQKTFLTEVKVIRSLDHPNVLKFI
19:49937946-49937946 C>T	0.0	4155	MELANOMA	-	-	-	-	SLC17A7	uc002pnq.1,p.G117R|ENST00000600601,p.G117R|ENST00000221485,p.G184R|uc002pnp.3,p.G184R|ENST00000543531,p.G172R|NM_020309,p.G184R	retained_intron, protein_coding, nonsense_mediated_decay	uc002pnq.1	nonsynonymous SNV	exon4	c.G349A	p.G117R	VIFVRILQGLVEGVTYPACHGIWSK	VIFVRILQGLVERVTYPACHGIWSK	1.0	2.0	unscreened	-	4155_19:49937946-49937946 C>T_VIFVRILQGLVERVTYPACHGIWSK
5:38924622-38924622 A>C	0.0	4155	MELANOMA	-	-	-	-	OSMR	uc003jln.2,p.I657L|ENST00000274276,p.I657L|NM_003999,p.I657L	protein_coding, nonsense_mediated_decay	uc003jln.2	nonsynonymous SNV	exon14	c.A1969C	p.I657L	WKDYSTESQPGFIQGYHVYLKSKAR	WKDYSTESQPGFLQGYHVYLKSKAR	4.0	10.0	-	-	4155_5:38924622-38924622 A>C_WKDYSTESQPGFLQGYHVYLKSKAR
17:21205537-21205537 T>C	1.0	4155	MELANOMA	-	-	-	-	MAP2K3	ENST00000496046,p.I161T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000496046	nonsynonymous SNV	exon6	c.T482C	p.I161T	KFYRKVLDKNMTIPEDILGEIAVSM	KFYRKVLDKNMTTPEDILGEIAVSM	8.0	1.0	-	-	4155_17:21205537-21205537 T>C_KFYRKVLDKNMTTPEDILGEIAVSM
17:21205537-21205537 T>C	1.0	4155	MELANOMA	-	-	-	-	MAP2K3	ENST00000342679,p.I161T|ENST00000316920,p.I132T|uc021tsr.1,p.I132T|ENST00000361818,p.I132T|uc002gys.3,p.I161T|NM_145109,p.I161T|uc002gyt.3,p.I132T|ENST00000526076,p.I132T|uc021tsq.1,p.I132T|NM_002756,p.I132T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tsr.1	nonsynonymous SNV	exon7	c.T395C	p.I132T	KFYRKVLDKNMTIPEDILGEIAVSI	KFYRKVLDKNMTTPEDILGEIAVSI	8.0	1.0	-	-	4155_17:21205537-21205537 T>C_KFYRKVLDKNMTTPEDILGEIAVSI
19:5844141-5844141 G>A	0.0	4155	MELANOMA	-	-	ID=COSM440528;OCCURENCE=1(central_nervous_system),1(breast)	-	FUT3	uc002mdk.2,p.T237M|uc002mdm.2,p.T237M|NM_000149,p.T237M|NM_001097640,p.T237M|ENST00000589620,p.T237M|uc002mdj.2,p.T237M|ENST00000458379,p.T237M|ENST00000303225,p.T237M|NM_001097641,p.T237M|uc002mdl.2,p.T237M|NM_001097639,p.T237M|uc021unn.1,p.T237M|ENST00000589918,p.T237M	protein_coding, processed_transcript	uc021unn.1	nonsynonymous SNV	exon1	c.C710T	p.T237M	SHKPLPKGTMMETLSRYKFYLAFEN	SHKPLPKGTMMEMLSRYKFYLAFEN	1.0	1.0	unscreened	-	4155_19:5844141-5844141 G>A_SHKPLPKGTMMEMLSRYKFYLAFEN
12:32136132-32136132 C>T	0.0	4155	MELANOMA	-	-	-	-	KIAA1551	NM_018169,p.S748L|ENST00000312561,p.S748L|uc001rks.3,p.S748L	retained_intron, protein_coding, processed_transcript	uc001rks.3	nonsynonymous SNV	exon4	c.C2243T	p.S748L	TALSMVMHNYESSGINITKGTELQI	TALSMVMHNYESLGINITKGTELQI	6.0	10.0	-	-	4155_12:32136132-32136132 C>T_TALSMVMHNYESLGINITKGTELQI
14:24884053-24884053 C>T	0.0	4155	MELANOMA	-	-	-	-	NYNRIN	NM_025081,p.S1033F|uc001wpf.4,p.S1033F|ENST00000382554,p.S1033F	protein_coding, processed_transcript	uc001wpf.4	nonsynonymous SNV	exon9	c.C3098T	p.S1033F	SSLASVFRVECPSLSEEILRCLSLH	SSLASVFRVECPFLSEEILRCLSLH	4.0	9.0	-	-	4155_14:24884053-24884053 C>T_SSLASVFRVECPFLSEEILRCLSLH
13:52971543-52971543 G>A	0.0	4155	MELANOMA	-	-	-	-	THSD1	uc001vgp.3,p.P282L|NM_199263,p.P282L|NM_018676,p.P282L|uc001vgo.3,p.P282L|ENST00000258613,p.P282L|ENST00000349258,p.P282L	protein_coding	uc001vgp.3	nonsynonymous SNV	exon3	c.C845T	p.P282L	GVVTVFKEAPRYPGKRTIHLAENSL	GVVTVFKEAPRYLGKRTIHLAENSL	5.0	7.0	-	-	4155_13:52971543-52971543 G>A_GVVTVFKEAPRYLGKRTIHLAENSL
19:56042650-56042650 C>T	0.0	4155	MELANOMA	-	-	ID=COSM1224724,COSM1224723;OCCURENCE=1(large_intestine)	-	SBK2	uc010ygc.2,p.E106K|ENST00000344158,p.E106K|NM_001101401,p.E106K|ENST00000413299,p.E106K	protein_coding	uc010ygc.2	nonsynonymous SNV	exon3	c.G316A	p.E106K	PKPRTSLRGFLYEFCVGLSLGAHSA	PKPRTSLRGFLYKFCVGLSLGAHSA	1.0	6.0	unscreened	-	4155_19:56042650-56042650 C>T_PKPRTSLRGFLYKFCVGLSLGAHSA
12:56092686-56092686 G>A	1.0	4155	MELANOMA	-	-	-	-	ITGA7	uc001shh.3,p.S273L|NM_001144996,p.S273L|uc010sps.2,p.S176L|ENST00000553804,p.S273L|NM_001144997,p.S176L|ENST00000452168,p.S176L|ENST00000394230,p.S273L	retained_intron, protein_coding, nonsense_mediated_decay	uc010sps.2	nonsynonymous SNV	exon6	c.C527T	p.S176L	VPANSYFGFSIDSGKGLVRAEELSF	VPANSYFGFSIDLGKGLVRAEELSF	10.0	9.0	-	-	4155_12:56092686-56092686 G>A_VPANSYFGFSIDLGKGLVRAEELSF
11:118183543-118183543 C>T	0.0	4155	MELANOMA	-	-	-	-	CD3E	uc001psq.4,p.P105L|ENST00000361763,p.P105L|ENST00000528600,p.P99L|uc010rya.2,p.P105L|NM_000733,p.P105L	retained_intron, protein_coding	uc010rya.2	nonsynonymous SNV	exon6	c.C314T	p.P105L	SGYYVCYPRGSKPEDANFYLYLRAR	SGYYVCYPRGSKLEDANFYLYLRAR	4.0	3.0	-	-	4155_11:118183543-118183543 C>T_SGYYVCYPRGSKLEDANFYLYLRAR
1:225569096-225569096 C>T	0.0	4155	MELANOMA	-	-	-	-	DNAH14	ENST00000445597,p.L3188F|ENST00000439375,p.L4196F|uc001how.2,p.L4196F|ENST00000430092,p.L4196F|NM_001373,p.L4196F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001how.2	nonsynonymous SNV	exon79	c.C12586T	p.L4196F	ESLSKNLKDHDPLIHCVLLTFLKQE	ESLSKNLKDHDPFIHCVLLTFLKQE	7.0	3.0	-	-	4155_1:225569096-225569096 C>T_ESLSKNLKDHDPFIHCVLLTFLKQE
15:25222154-25222154 G>A	0.0	4155	MELANOMA	-	-	-	-	SNRPN	ENST00000579070,p.G133E|uc021sga.1,p.G133E|uc001yws.1,p.G133E|ENST00000400100,p.G133E|ENST00000577565,p.G133E|NM_022805,p.G133E|ENST00000400098,p.G133E|uc001ywq.1,p.G133E|ENST00000346403,p.G133E|uc001ywt.1,p.G133E|NM_003097,p.G133E|uc001ywr.1,p.G133E|uc021sgb.1,p.G136E|NM_022807,p.G133E|ENST00000444203,p.G137E|uc001ywp.1,p.G133E|NM_022806,p.G133E|NM_022808,p.G133E|ENST00000390687,p.G133E|ENST00000554227,p.G137E|ENST00000400097,p.G133E	protein_coding, processed_transcript	uc021sgb.1	nonsynonymous SNV	exon5	c.G407A	p.G136E	PQAPAGLAGPVRGVGGPSQQVMTPQ	PQAPAGLAGPVREVGGPSQQVMTPQ	9.0	7.0	-	-	4155_15:25222154-25222154 G>A_PQAPAGLAGPVREVGGPSQQVMTPQ
17:42818711-42818711 C>T	0.0	4155	MELANOMA	-	-	-	-	DBF4B	ENST00000315005,p.R241C|NM_145663,p.R241C|NM_025104,p.R241C|uc010wjc.2,p.R241C|uc002ihe.3,p.R55C|ENST00000393547,p.R241C|uc002ihf.3,p.R241C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wjc.2	nonsynonymous SNV	exon10	c.C721T	p.R241C	PFLKIEDESRKFRPFHHQFKSFPEI	PFLKIEDESRKFCPFHHQFKSFPEI	7.0	5.0	unscreened	-	4155_17:42818711-42818711 C>T_PFLKIEDESRKFCPFHHQFKSFPEI
19:45150675-45150675 C>T	0.0	4155	MELANOMA	-	-	-	-	PVR	uc002ozn.3,p.S32L|NM_001135770,p.S87L|uc010ejs.3,p.S87L|NM_006505,p.S87L|NM_001135768,p.S87L|uc010xxb.2,p.S87L|ENST00000425690,p.S87L|ENST00000406449,p.S87L|ENST00000403059,p.S87L|uc010xxc.2,p.S87L|uc002ozm.3,p.S87L|ENST00000344956,p.S87L|NM_001135769,p.S87L	protein_coding, nonsense_mediated_decay	uc010xxc.2	nonsynonymous SNV	exon2	c.C260T	p.S87L	MAVFHQTQGPSYSESKRLEFVAARL	MAVFHQTQGPSYLESKRLEFVAARL	8.0	4.0	-	-	4155_19:45150675-45150675 C>T_MAVFHQTQGPSYLESKRLEFVAARL
14:53331331-53331331 A>T	1.0	4155	MELANOMA	-	-	-	-	FERMT2	ENST00000341590,p.Y464N|NM_006832,p.Y464N|uc001xad.3,p.Y464N|uc001xae.3,p.Y464N|ENST00000553373,p.Y464N|uc001xaf.3,p.Y464N|ENST00000395631,p.Y464N|NM_001135000,p.Y464N|NM_001134999,p.Y464N|ENST00000399304,p.Y464N|uc001xac.3,p.Y464N|ENST00000343279,p.Y464N|ENST00000554152,p.Y417N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xaf.3	nonsynonymous SNV	exon12	c.T1390A	p.Y464N	NEIWLRCDNEKQYAHWMAACRLASK	NEIWLRCDNEKQNAHWMAACRLASK	10.0	8.0	-	-	4155_14:53331331-53331331 A>T_NEIWLRCDNEKQNAHWMAACRLASK
19:9297274-9297274 G>A	0.0	4155	MELANOMA	-	-	-	-	OR7D2	ENST00000344248,p.V273M|uc002mkz.1,p.V273M|NM_175883,p.V273M	protein_coding	uc002mkz.1	nonsynonymous SNV	exon1	c.G817A	p.V273M	TSAVTHSSQKISVASVMYTVVTPML	TSAVTHSSQKISMASVMYTVVTPML	1.0	10.0	unscreened	-	4155_19:9297274-9297274 G>A_TSAVTHSSQKISMASVMYTVVTPML
7:97487649-97487649 G>A	0.0	4155	MELANOMA	-	-	-	-	ASNS	NM_133436,p.P282S|ENST00000422745,p.P261S|ENST00000394308,p.P282S|NM_001178077,p.P199S|uc003uox.4,p.P199S|ENST00000175506,p.P282S|ENST00000437628,p.P199S|uc003uov.4,p.P282S|NM_001178075,p.P261S|uc003uou.4,p.P282S|NM_001673,p.P282S|uc003uot.4,p.P282S|ENST00000455086,p.P199S|NM_183356,p.P282S|ENST00000454046,p.P282S|ENST00000444334,p.P261S|ENST00000394309,p.P282S|uc011kin.2,p.P199S|uc011kio.2,p.P261S|NM_001178076,p.P199S	retained_intron, protein_coding, nonsense_mediated_decay	uc011kio.2	nonsynonymous SNV	exon7	c.C781T	p.P261S	LLKQLKEAQVQYPLQTFAIGMEDSP	LLKQLKEAQVQYSLQTFAIGMEDSP	8.0	1.0	-	-	4155_7:97487649-97487649 G>A_LLKQLKEAQVQYSLQTFAIGMEDSP
12:70206792-70206792 G>A	0.0	4155	MELANOMA	-	-	-	-	RAB3IP	uc001svm.3,p.G427R|NM_001278402,p.G221R|ENST00000551641,p.G221R|ENST00000550847,p.G134R|ENST00000247833,p.G427R|uc001svt.3,p.G221R|ENST00000553099,p.G221R|uc001svp.3,p.G443R|NM_175623,p.G443R|NM_022456,p.G427R|NM_001024647,p.G221R|ENST00000550536,p.G443R|ENST00000325555,p.G221R	retained_intron, nonsense_mediated_decay, protein_coding	uc001svt.3	nonsynonymous SNV	exon8	c.G661A	p.G221R	CNFFTYIRYIQQGLVKQQDVDQMFW	CNFFTYIRYIQQRLVKQQDVDQMFW	7.0	7.0	-	-	4155_12:70206792-70206792 G>A_CNFFTYIRYIQQRLVKQQDVDQMFW
12:27152555-27152555 G>A	1.0	4155	MELANOMA	-	-	-	-	TM7SF3	NM_016551,p.L101F|ENST00000512808,p.L80F|uc010sjl.2,p.L101F|ENST00000343028,p.L101F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sjl.2	nonsynonymous SNV	exon3	c.C301T	p.L101F	SETGTASGLVFILRPEQSTCTWYLG	SETGTASGLVFIFRPEQSTCTWYLG	8.0	2.0	-	-	4155_12:27152555-27152555 G>A_SETGTASGLVFIFRPEQSTCTWYLG
11:5221240-5221240 G>A	0.0	4155	MELANOMA	-	-	ID=COSM1508737;OCCURENCE=1(lung)	-	OR51V1	NM_001004760,p.L231F|uc010qyz.2,p.L231F|ENST00000321255,p.L231F	protein_coding	uc010qyz.2	nonsynonymous SNV	exon1	c.C691T	p.L231F	DAILILFSYILILKSVLAVASQEER	DAILILFSYILIFKSVLAVASQEER	1.0	3.0	unscreened	-	4155_11:5221240-5221240 G>A_DAILILFSYILIFKSVLAVASQEER
4:126369619-126369619 C>T	0.0	4155	MELANOMA	-	-	-	1	FAT4	ENST00000335110,p.S781F|NM_024582,p.S2483F|uc011cgp.2,p.S781F|uc003ifj.4,p.S2483F|NM_001291303,p.S2485F|NM_001291285,p.S2485F|ENST00000394329,p.S2483F	retained_intron, protein_coding	uc011cgp.2	nonsynonymous SNV	exon9	c.C2342T	p.S781F	YVTHIPSPTLPGSFVFAVTVTDADI	YVTHIPSPTLPGFFVFAVTVTDADI	1.0	8.0	unscreened	-	4155_4:126369619-126369619 C>T_YVTHIPSPTLPGFFVFAVTVTDADI
10:11505738-11505738 G>A	1.0	4155	MELANOMA	-	-	-	-	USP6NL	uc001iks.1,p.P414S|ENST00000277575,p.P414S|uc001ikt.3,p.P397S|NM_014688,p.P397S|NM_001080491,p.P414S|ENST00000379237,p.P397S	protein_coding	uc001ikt.3	nonsynonymous SNV	exon15	c.C1189T	p.P397S	LSNGQRSVGRPSPLASGRRESGAPH	LSNGQRSVGRPSSLASGRRESGAPH	6.0	7.0	-	-	4155_10:11505738-11505738 G>A_LSNGQRSVGRPSSLASGRRESGAPH
7:45932629-45932629 C>T	0.0	4155	MELANOMA	-	-	-	-	IGFBP1	NM_000596,p.P240L|ENST00000275525,p.P240L|ENST00000468955,p.P197L|ENST00000457280,p.P238L|uc003tnp.3,p.P240L	protein_coding	uc003tnp.3	nonsynonymous SNV	exon4	c.C719T	p.P240L	CWCVYPWNGKRIPGSPEIRGDPNCQ	CWCVYPWNGKRILGSPEIRGDPNCQ	1.0	1.0	unscreened	-	4155_7:45932629-45932629 C>T_CWCVYPWNGKRILGSPEIRGDPNCQ
1:36602857-36602857 G>A	1.0	4155	MELANOMA	-	-	-	-	TRAPPC3	NM_001270897,p.R98W|uc031plt.1,p.R98W|ENST00000373162,p.R118W|ENST00000373163,p.R118W|uc031plu.1,p.R118W|ENST00000373166,p.R164W|NM_014408,p.R164W|NM_001270894,p.R172W|uc031pls.1,p.R172W|NM_001270896,p.R118W|uc031plw.1,p.R80W|uc001bzx.4,p.R164W|NM_001270895,p.R118W|uc031plx.1,p.R118W	protein_coding, processed_transcript	uc031plx.1	nonsynonymous SNV	exon5	c.C352T	p.R118W	QDTLKGDGVTEIRMRFIRRIEDNLP	QDTLKGDGVTEIWMRFIRRIEDNLP	10.0	10.0	-	-	4155_1:36602857-36602857 G>A_QDTLKGDGVTEIWMRFIRRIEDNLP
1:248551067-248551067 C>A	0.0	4155	MELANOMA	-	-	ID=COSM534141;OCCURENCE=1(lung)	-	OR2T6	ENST00000355728,p.P53H|NM_001005471,p.P53H|uc001iei.1,p.P53H	protein_coding	uc001iei.1	nonsynonymous SNV	exon1	c.C158A	p.P53H	ANGVMIFLINIDPHLHTPMYFLLSH	ANGVMIFLINIDHHLHTPMYFLLSH	1.0	1.0	unscreened	-	4155_1:248551067-248551067 C>A_ANGVMIFLINIDHHLHTPMYFLLSH
1:204131169-204131169 G>A	0.0	4155	MELANOMA	-	-	-	-	REN	NM_000537,p.S74F|uc001haq.2,p.S74F|ENST00000272190,p.S74F|ENST00000367195,p.S74F	protein_coding	uc001haq.2	nonsynonymous SNV	exon2	c.C221T	p.S74F	QPMKRLTLGNTTSSVILTNYMDTQY	QPMKRLTLGNTTFSVILTNYMDTQY	1.0	4.0	unscreened	-	4155_1:204131169-204131169 G>A_QPMKRLTLGNTTFSVILTNYMDTQY
18:44015304-44015304 G>A	0.0	4155	MELANOMA	-	-	ID=COSM1388796;OCCURENCE=1(large_intestine)	-	RNF165	uc002lby.1,p.D77N|ENST00000593230,p.D77N|ENST00000269439,p.D144N|NM_152470,p.D144N|uc002lcb.1,p.D144N	protein_coding, processed_transcript, nonsense_mediated_decay	uc002lcb.1	nonsynonymous SNV	exon3	c.G430A	p.D144N	VSVHPHRLHPSFDFGQLQTPQPRYL	VSVHPHRLHPSFNFGQLQTPQPRYL	2.0	5.0	unscreened	-	4155_18:44015304-44015304 G>A_VSVHPHRLHPSFNFGQLQTPQPRYL
X:154182265-154182265 C>T	0.0	4155	MELANOMA	-	-	-	-	F8	ENST00000360256,p.R602Q|uc004fmt.3,p.R602Q|NM_000132,p.R602Q	protein_coding, processed_transcript	uc004fmt.3	nonsynonymous SNV	exon12	c.G1805A	p.R602Q	RNVILFSVFDENRSWYLTENIQRFL	RNVILFSVFDENQSWYLTENIQRFL	5.0	10.0	-	-	4155_X:154182265-154182265 C>T_RNVILFSVFDENQSWYLTENIQRFL
17:7365345-7365345 G>A	1.0	4155	MELANOMA	-	-	-	-	ZBTB4	NM_020899,p.P986S|ENST00000380599,p.P986S|uc002ghd.4,p.P986S|uc002ghc.4,p.P986S|NM_001128833,p.P986S|ENST00000311403,p.P986S	protein_coding	uc002ghd.4	nonsynonymous SNV	exon4	c.C2956T	p.P986S	PQAAPPAPPTPPPPTLPPPIPPKGE	PQAAPPAPPTPPSPTLPPPIPPKGE	8.0	8.0	-	-	4155_17:7365345-7365345 G>A_PQAAPPAPPTPPSPTLPPPIPPKGE
12:70206792-70206792 G>A	0.0	4155	MELANOMA	-	-	-	-	RAB3IP	ENST00000550437,p.G68R	retained_intron, nonsense_mediated_decay, protein_coding	ENST00000550437	nonsynonymous SNV	exon3	c.G202A	p.G68R	CNFFTYIRYIQQGLVKQQDVL	CNFFTYIRYIQQRLVKQQDVL	7.0	7.0	-	-	4155_12:70206792-70206792 G>A_CNFFTYIRYIQQRLVKQQDVL
6:109764243-109764243 C>G	0.0	4155	MELANOMA	-	-	-	-	SMPD2	NM_003080,p.P230A|ENST00000258052,p.P230A|uc003pti.3,p.P230A	retained_intron, protein_coding	uc003pti.3	nonsynonymous SNV	exon8	c.C688G	p.P230A	PKNCYVSQQELKPFPFGVRIDYVLY	PKNCYVSQQELKAFPFGVRIDYVLY	7.0	4.0	-	-	4155_6:109764243-109764243 C>G_PKNCYVSQQELKAFPFGVRIDYVLY
22:38013024-38013024 C>T	0.0	4155	MELANOMA	-	-	-	-	GGA1	NM_001001561,p.T75I|ENST00000414350,p.T75I|uc003atb.3,p.T75I	retained_intron, protein_coding, processed_transcript	uc003atb.3	nonsynonymous SNV	exon3	c.C224T	p.T75I	AIQALTVRRGEATIRPPPCDDTKGG	AIQALTVRRGEAIIRPPPCDDTKGG	10.0	5.0	unscreened	-	4155_22:38013024-38013024 C>T_AIQALTVRRGEAIIRPPPCDDTKGG
9:2718361-2718361 G>A	0.0	4155	MELANOMA	-	-	-	-	KCNV2	ENST00000382082,p.D208N|uc003zho.2,p.D208N|NM_133497,p.D208N	protein_coding	uc003zho.2	nonsynonymous SNV	exon1	c.G622A	p.D208N	PRCCRICFEERRDELSERLKIQHEL	PRCCRICFEERRNELSERLKIQHEL	1.0	10.0	unscreened	-	4155_9:2718361-2718361 G>A_PRCCRICFEERRNELSERLKIQHEL
19:36884176-36884176 G>A	0.0	4155	MELANOMA	-	-	-	-	ZFP82	ENST00000392171,p.H356Y|uc002ody.1,p.H356Y|NM_133466,p.H356Y|ENST00000392161,p.H356Y	retained_intron, protein_coding	uc002ody.1	nonsynonymous SNV	exon5	c.C1066T	p.H356Y	GKAFRVRQQLTLHQRIHTGEKPYEC	GKAFRVRQQLTLYQRIHTGEKPYEC	5.0	1.0	-	-	4155_19:36884176-36884176 G>A_GKAFRVRQQLTLYQRIHTGEKPYEC
22:38013024-38013024 C>T	0.0	4155	MELANOMA	-	-	-	-	GGA1	ENST00000381756,p.T75I	retained_intron, protein_coding, processed_transcript	ENST00000381756	nonsynonymous SNV	exon3	c.C224T	p.T75I	AIQALTVRRGEATIRPPPCDDTKVL	AIQALTVRRGEAIIRPPPCDDTKVL	10.0	5.0	unscreened	-	4155_22:38013024-38013024 C>T_AIQALTVRRGEAIIRPPPCDDTKVL
2:85012801-85012801 C>T	0.0	4155	MELANOMA	-	-	-	-	DNAH6	ENST00000237449,p.S3674L|NM_001370,p.S3674L|uc010fgb.3,p.S3674L|uc002sot.3,p.S433L|ENST00000389394,p.S3674L	retained_intron, protein_coding, processed_transcript	uc010fgb.3	nonsynonymous SNV	exon67	c.C11021T	p.S3674L	ANIRRAFTEMTPSFFEENILGKKWR	ANIRRAFTEMTPLFFEENILGKKWR	3.0	8.0	-	-	4155_2:85012801-85012801 C>T_ANIRRAFTEMTPLFFEENILGKKWR
2:169792829-169792829 G>A	0.0	4155	MELANOMA	-	-	-	-	ABCB11	ENST00000263817,p.P909S|uc010zda.1,p.P351S|uc002ueo.1,p.P909S|uc010zdb.1,p.P385S|NM_003742,p.P909S	retained_intron, protein_coding, nonsense_mediated_decay	uc010zdb.1	nonsynonymous SNV	exon9	c.C1153T	p.P385S	SWKLSLVILCFFPFLALSGATQTRM	SWKLSLVILCFFSFLALSGATQTRM	1.0	5.0	unscreened	-	4155_2:169792829-169792829 G>A_SWKLSLVILCFFSFLALSGATQTRM
19:47424733-47424733 T>G	1.0	4155	MELANOMA	-	-	-	-	ARHGAP35	ENST00000404338,p.F934C|uc010ekv.3,p.F934C|NM_004491,p.F934C	retained_intron, protein_coding, processed_transcript	uc010ekv.3	nonsynonymous SNV	exon1	c.T2801G	p.F934C	IPCSQPQHKLEIFHPFFKDVVEKKN	IPCSQPQHKLEICHPFFKDVVEKKN	8.0	7.0	-	-	4155_19:47424733-47424733 T>G_IPCSQPQHKLEICHPFFKDVVEKKN
7:98254273-98254273 C>T	0.0	4155	MELANOMA	-	-	-	-	NPTX2	ENST00000265634,p.S228F|uc003upl.2,p.S228F|NM_002523,p.S228F	retained_intron, protein_coding	uc003upl.2	nonsynonymous SNV	exon3	c.C683T	p.S228F	NSAFKSPDAFKVSLPLRTNYLYGKI	NSAFKSPDAFKVFLPLRTNYLYGKI	1.0	10.0	unscreened	-	4155_7:98254273-98254273 C>T_NSAFKSPDAFKVFLPLRTNYLYGKI
18:6824798-6824798 C>T	0.0	4155	MELANOMA	-	-	-	-	LINC01387,ARHGAP28	ENST00000583410,p.L19F|ENST00000584387,p.L27F|ENST00000400091,p.L54F|ENST00000383472,p.L54F	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000584387	nonsynonymous SNV	exon2	c.C79T	p.L27F	KSIPRCRRINRMLSNESLHPPAFSR	KSIPRCRRINRMFSNESLHPPAFSR	5.0	5.0	-	-	4155_18:6824798-6824798 C>T_KSIPRCRRINRMFSNESLHPPAFSR
16:71065649-71065649 C>T	0.0	4155	MELANOMA	-	-	ID=COSM1588508,COSM973197,COSM973195,COSM973196;OCCURENCE=1(endometrium)	-	HYDIN	ENST00000393567,p.G901R|ENST00000393552,p.G519R|uc010vmd.2,p.G928R|NM_001198543,p.G918R|ENST00000321489,p.G901R|NM_017558,p.G901R|NM_001270974,p.G901R|ENST00000541601,p.G918R|NM_001198542,p.G928R|uc031qwy.1,p.G901R|ENST00000538248,p.G928R|uc021tkq.2,p.G901R|ENST00000448691,p.G901R|uc010vmc.2,p.G918R|ENST00000448089,p.G901R|uc010cfz.2,p.G646R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon19	c.G2701A	p.G901R	NSSTYRIPVQASGTGSTIVSDKPFA	NSSTYRIPVQASRTGSTIVSDKPFA	3.0	1.0	unscreened	-	4155_16:71065649-71065649 C>T_NSSTYRIPVQASRTGSTIVSDKPFA
1:76877919-76877919 C>T	0.0	4155	MELANOMA	0.0005	-	ID=COSM166814;OCCURENCE=1(large_intestine),1(haematopoietic_and_lymphoid_tissue)	-	ST6GALNAC3	NM_152996,p.A147V|uc001dhh.2,p.A147V|uc010orh.1,p.A82V|NM_001160011,p.A147V|uc001dhg.4,p.A147V|ENST00000328299,p.A147V	protein_coding, processed_transcript	uc010orh.1	nonsynonymous SNV	exon2	c.C245T	p.A82V	LLLKNPDYFFKEANTTIYVIWGPFR	LLLKNPDYFFKEVNTTIYVIWGPFR	6.0	5.0	-	-	4155_1:76877919-76877919 C>T_LLLKNPDYFFKEVNTTIYVIWGPFR
2:160876723-160876723 G>A	0.0	4155	MELANOMA	-	-	-	-	PLA2R1	NM_001007267,p.S449F|ENST00000392771,p.S449F|uc010zcp.2,p.S449F|uc002ubf.3,p.S449F|NM_001195641,p.S449F|uc002ube.2,p.S449F|ENST00000283243,p.S449F|NM_007366,p.S449F	protein_coding, processed_transcript	uc010zcp.2	nonsynonymous SNV	exon8	c.C1346T	p.S449F	TWIGLSSNKIPVSFEWSNDSSVIFT	TWIGLSSNKIPVFFEWSNDSSVIFT	7.0	10.0	-	-	4155_2:160876723-160876723 G>A_TWIGLSSNKIPVFFEWSNDSSVIFT
2:141526877-141526877 C>T	0.0	4155	MELANOMA	-	-	ID=COSM3938527;OCCURENCE=1(oesophagus)	1	LRP1B	uc002tvj.1,p.G1888E|ENST00000389484,p.G1888E|NM_018557,p.G1888E	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon35	c.G5663A	p.G1888E	GIESFLMYSVHEGIRGIPLEPSDKM	GIESFLMYSVHEEIRGIPLEPSDKM	1.0	3.0	unscreened	-	4155_2:141526877-141526877 C>T_GIESFLMYSVHEEIRGIPLEPSDKM
6:33152774-33152774 C>T	1.0	4155	MELANOMA	-	-	-	-	COL11A2	ENST00000395197,p.E312K|uc003ocy.1,p.E286K|ENST00000374708,p.E286K|NM_080681,p.E286K	protein_coding, processed_transcript	uc003ocy.1	nonsynonymous SNV	exon6	c.G856A	p.E286K	EEILESSLLPPLEEAAHGPRGLKGE	EEILESSLLPPLKEAAHGPRGLKGE	5.0	9.0	-	-	4155_6:33152774-33152774 C>T_EEILESSLLPPLKEAAHGPRGLKGE
14:21109231-21109231 G>A	0.0	4155	MELANOMA	-	-	-	-	OR6S1	uc001vxv.1,p.S207F|ENST00000320704,p.S207F|NM_001001968,p.S207F	protein_coding	uc001vxv.1	nonsynonymous SNV	exon1	c.C620T	p.S207F	TKKLEETDFVLASLVIVSSLLITAV	TKKLEETDFVLAFLVIVSSLLITAV	1.0	5.0	unscreened	-	4155_14:21109231-21109231 G>A_TKKLEETDFVLAFLVIVSSLLITAV
6:136687151-136687151 G>A	0.0	4155	MELANOMA	0.0009	-	-	-	MAP7	NM_001198608,p.P354L|uc011edh.2,p.P317L|uc010kgq.2,p.P238L|NM_001198619,p.P186L|NM_001198611,p.P317L|ENST00000432797,p.P186L|ENST00000454590,p.P354L|uc010kgu.3,p.P354L|uc003qgz.3,p.P332L|uc010kgr.2,p.P186L|uc011edf.2,p.P317L|uc010kgv.3,p.P354L|NM_003980,p.P332L|uc011edi.2,p.P186L|ENST00000354570,p.P332L|NM_001198618,p.P186L|uc011edg.2,p.P362L|NM_001198615,p.P317L|NM_001198617,p.P238L|NM_001198609,p.P362L|ENST00000438100,p.P317L|ENST00000544465,p.P317L|uc010kgs.3,p.P186L|NM_001198614,p.P354L|uc003qha.2,p.P295L|NM_001198616,p.P295L	protein_coding	uc011edi.2	nonsynonymous SNV	exon10	c.C557T	p.P186L	KARQPARSRLWLPSKSLPHLPGTPR	KARQPARSRLWLLSKSLPHLPGTPR	3.0	5.0	-	-	4155_6:136687151-136687151 G>A_KARQPARSRLWLLSKSLPHLPGTPR
6:160448315-160448315 C>T	0.0	4155	MELANOMA	0.01	-	-	-	IGF2R	uc003qta.3,p.R249W|ENST00000356956,p.R249W|NM_000876,p.R249W	protein_coding, processed_transcript	uc003qta.3	nonsynonymous SNV	exon6	c.C745T	p.R249W	VRGHQAFDVGQPRDGLKLVRKDRLV	VRGHQAFDVGQPWDGLKLVRKDRLV	8.0	1.0	unscreened	-	4155_6:160448315-160448315 C>T_VRGHQAFDVGQPWDGLKLVRKDRLV
X:111874675-111874675 C>T	0.0	4155	MELANOMA	-	-	-	-	LHFPL1	NM_178175,p.M212I|ENST00000536453,p.M179I|uc004epq.3,p.M212I|uc004epp.3,p.M235I|uc010nqb.3,p.M179I|ENST00000371968,p.M212I	protein_coding, processed_transcript	uc010nqb.3	nonsynonymous SNV	exon3	c.G537A	p.M179I	VESIMRNTNSYAMELDHCLKP	VESIMRNTNSYAIELDHCLKP	2.0	10.0	unscreened	-	4155_X:111874675-111874675 C>T_VESIMRNTNSYAIELDHCLKP
19:40903036-40903036 G>A	0.0	4155	MELANOMA	-	-	-	-	PRX	ENST00000324001,p.P408L|uc002onr.3,p.P408L|NM_181882,p.P408L|uc002onq.3,p.P269L	protein_coding, processed_transcript	uc002onr.3	nonsynonymous SNV	exon7	c.C1223T	p.P408L	FGLSLLEPRPAAPEVVESKLKLPTI	FGLSLLEPRPAALEVVESKLKLPTI	3.0	5.0	-	-	4155_19:40903036-40903036 G>A_FGLSLLEPRPAALEVVESKLKLPTI
4:62845329-62845329 G>A	0.0	4155	MELANOMA	-	-	-	-	LPHN3	ENST00000545650,p.G884R|ENST00000514157,p.G884R|ENST00000507625,p.G952R|ENST00000506746,p.G952R|ENST00000506720,p.G952R|ENST00000512091,p.G884R|ENST00000514996,p.G884R|ENST00000509896,p.G952R|uc003hcq.4,p.G884R|ENST00000507164,p.G952R|ENST00000506700,p.G884R|ENST00000511324,p.G952R|ENST00000514591,p.G884R|uc010ihh.3,p.G884R|ENST00000508946,p.G884R|ENST00000508693,p.G952R|ENST00000504896,p.G884R|uc003hct.3,p.G277R|NM_015236,p.G884R	retained_intron, protein_coding, processed_transcript	uc010ihh.3	nonsynonymous SNV	exon15	c.G2650A	p.G884R	VHDLLLDVITWVGILLSLVCLLICI	VHDLLLDVITWVRILLSLVCLLICI	1.0	9.0	unscreened	-	4155_4:62845329-62845329 G>A_VHDLLLDVITWVRILLSLVCLLICI
18:31326183-31326183 C>T	0.0	4155	MELANOMA	-	-	-	-	ASXL3	ENST00000269197,p.S2124F|uc002kxq.2,p.S1831F|NM_030632,p.S2124F|uc010dmg.1,p.S2124F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dmg.1	nonsynonymous SNV	exon12	c.C6371T	p.S2124F	LKAFALKSADFSSYLLSEPQKPFTQ	LKAFALKSADFSFYLLSEPQKPFTQ	1.0	9.0	unscreened	-	4155_18:31326183-31326183 C>T_LKAFALKSADFSFYLLSEPQKPFTQ
19:8595400-8595400 G>T	0.0	4155	MELANOMA	-	-	-	-	MYO1F	ENST00000598005,p.P195Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000598005	nonsynonymous SNV	exon6	c.C584A	p.P195Q	ARAKVRWLCPNHPEGLAAPRGCPEV	ARAKVRWLCPNHQEGLAAPRGCPEV	6.0	9.0	unscreened	-	4155_19:8595400-8595400 G>T_ARAKVRWLCPNHQEGLAAPRGCPEV
14:20928939-20928939 G>A	1.0	4155	MELANOMA	-	-	-	-	TMEM55B	uc001vxk.2,p.P77S|NM_144568,p.P70S|NM_001100814,p.P77S|ENST00000250489,p.P70S|uc001vxl.2,p.P70S|ENST00000398020,p.P77S	retained_intron, protein_coding	uc001vxl.2	nonsynonymous SNV	exon2	c.C208T	p.P70S	AVLPGEDPPPYSPLTSPDSGSAPMI	AVLPGEDPPPYSSLTSPDSGSAPMI	8.0	8.0	-	-	4155_14:20928939-20928939 G>A_AVLPGEDPPPYSSLTSPDSGSAPMI
11:123755295-123755295 G>A	0.0	4155	MELANOMA	-	-	-	-	TMEM225	ENST00000528595,p.S27F|uc001pzi.3,p.S77F|ENST00000375026,p.S77F|NM_001013743,p.S77F	protein_coding	uc001pzi.3	nonsynonymous SNV	exon2	c.C230T	p.S77F	VVRIMMTSSLGLSFLLNLILGMKFT	VVRIMMTSSLGLFFLLNLILGMKFT	1.0	1.0	unscreened	-	4155_11:123755295-123755295 G>A_VVRIMMTSSLGLFFLLNLILGMKFT
11:64359108-64359108 C>T	0.0	4155	MELANOMA	-	-	-	-	SLC22A12	ENST00000336464,p.S27F|ENST00000377574,p.S27F|uc009yps.2,p.S27F|NM_001276327,p.S27F|uc009ypr.1,p.S27F|NM_001276326,p.S27F|ENST00000377572,p.S27F|ENST00000377567,p.S27F|NM_144585,p.S27F|uc001oan.2,p.S27F|uc001oam.2,p.S27F	protein_coding	uc009yps.2	nonsynonymous SNV	exon1	c.C80T	p.S27F	RFQVLQTMALMVSIMWLCTQSMLEN	RFQVLQTMALMVFIMWLCTQSMLEN	1.0	5.0	unscreened	-	4155_11:64359108-64359108 C>T_RFQVLQTMALMVFIMWLCTQSMLEN
2:234113290-234113290 C>T	0.0	4155	MELANOMA	-	-	-	-	INPP5D	ENST00000435188,p.T786I|ENST00000455936,p.T917I|ENST00000445964,p.T786I|ENST00000450745,p.T917I|ENST00000415617,p.T786I|ENST00000359570,p.T1153I	retained_intron, protein_coding, processed_transcript	ENST00000455936	nonsynonymous SNV	exon21	c.C2750T	p.T917I	LQHSKGRDYRDNTELPHHGKHRPEE	LQHSKGRDYRDNIELPHHGKHRPEE	6.0	9.0	unscreened	-	4155_2:234113290-234113290 C>T_LQHSKGRDYRDNIELPHHGKHRPEE
2:190428645-190428645 C>T	0.0	4155	MELANOMA	-	-	-	-	SLC40A1	ENST00000261024,p.G356E|NM_014585,p.G356E|uc002uqp.4,p.G356E	retained_intron, protein_coding, processed_transcript	uc002uqp.4	nonsynonymous SNV	exon7	c.G1067A	p.G356E	ILMGASAITGIMGTVAFTWLRRKCG	ILMGASAITGIMETVAFTWLRRKCG	5.0	3.0	unscreened	-	4155_2:190428645-190428645 C>T_ILMGASAITGIMETVAFTWLRRKCG
12:98941389-98941389 G>A	0.0	4155	MELANOMA	-	-	ID=COSM212217;OCCURENCE=1(breast)	-	TMPO	NM_001032283,p.R373Q|ENST00000393053,p.R264Q|ENST00000343315,p.R333Q|ENST00000556678,p.R208Q|uc001tfk.3,p.R264Q|ENST00000556029,p.R373Q|NM_001032284,p.R264Q|uc001tfj.3,p.R373Q	retained_intron, protein_coding, processed_transcript	uc001tfk.3	nonsynonymous SNV	exon6	c.G791A	p.R264Q	ASCRRPIKGAAGRPLELSDFRMEES	ASCRRPIKGAAGQPLELSDFRMEES	8.0	6.0	-	-	4155_12:98941389-98941389 G>A_ASCRRPIKGAAGQPLELSDFRMEES
14:105412976-105412976 C>T	0.0	4155	MELANOMA	-	-	-	-	AHNAK2	NM_138420,p.E2938K|ENST00000333244,p.E2938K|uc010axc.1,p.E2938K|uc001ypx.2,p.E2838K	retained_intron, protein_coding	uc010axc.1	nonsynonymous SNV	exon7	c.G8812A	p.E2938K	KGPKAEVTAPDVEVSLPSVEVDVEA	KGPKAEVTAPDVKVSLPSVEVDVEA	10.0	4.0	-	-	4155_14:105412976-105412976 C>T_KGPKAEVTAPDVKVSLPSVEVDVEA
1:57233514-57233514 C>T	0.0	4155	MELANOMA	-	-	-	-	C1orf168	ENST00000343433,p.E351K|uc001cym.4,p.E351K|NM_001004303,p.E351K	retained_intron, protein_coding, processed_transcript	uc001cym.4	nonsynonymous SNV	exon5	c.G1051A	p.E351K	HSGNSINLCTAKEIADPTYEVGIEE	HSGNSINLCTAKKIADPTYEVGIEE	1.0	7.0	unscreened	-	4155_1:57233514-57233514 C>T_HSGNSINLCTAKKIADPTYEVGIEE
19:55699534-55699534 G>A	0.0	4155	MELANOMA	-	-	-	-	PTPRH	uc002qjq.3,p.S796F|NM_002842,p.S796F|ENST00000263434,p.S618F|NM_001161440,p.S618F|ENST00000376350,p.S796F|uc010esv.3,p.S618F	protein_coding, processed_transcript	uc010esv.3	nonsynonymous SNV	exon11	c.C1853T	p.S618F	QQKPELRDLVFSSPGDIPAEDFADH	QQKPELRDLVFSFPGDIPAEDFADH	5.0	3.0	-	-	4155_19:55699534-55699534 G>A_QQKPELRDLVFSFPGDIPAEDFADH
1:216380657-216380657 C>T	0.0	4155	MELANOMA	-	-	-	-	USH2A	NM_007123,p.D1092N|NM_206933,p.D1092N|ENST00000366942,p.D1092N|ENST00000307340,p.D1092N|uc001hku.1,p.D1092N|uc001hkv.3,p.D1092N|ENST00000366943,p.D1092N	retained_intron, protein_coding	uc001hkv.3	nonsynonymous SNV	exon16	c.G3274A	p.D1092N	PNAHWLTYSLLRDGFEIYTTEDQYP	PNAHWLTYSLLRNGFEIYTTEDQYP	1.0	6.0	unscreened	-	4155_1:216380657-216380657 C>T_PNAHWLTYSLLRNGFEIYTTEDQYP
15:68379077-68379096 CCACCAGTCTAGGTAAGATT>-	0.0	4155	MELANOMA	-	-	-	-	PIAS1	ENST00000564915,p.153_157del	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000564915	nonframeshift deletion	exon2	c.458_469del	p.153_157del	LPFYDLLDELIKPTSLAEII	LPFYDLLDELIKPEII	7.0	1.0	unscreened	-	4155_15:68379077-68379096 CCACCAGTCTAGGTAAGATT>-_LPFYDLLDELIKPEII
13:76395560-76395560 G>A	1.0	4155	MELANOMA	-	-	-	-	LMO7	ENST00000377534,p.E871K|NM_015842,p.E586K|ENST00000341547,p.E537K|uc010thw.2,p.E436K|NM_005358,p.E537K|ENST00000526202,p.E436K|ENST00000321797,p.E586K|ENST00000465261,p.E586K|uc001vjw.1,p.E492K|uc021rkq.1,p.E819K|uc001vjt.1,p.E485K|uc010thv.2,p.E537K|ENST00000357063,p.E871K|ENST00000377499,p.E485K|uc001vjv.3,p.E586K	retained_intron, protein_coding, processed_transcript	uc021rkq.1	nonsynonymous SNV	exon14	c.G2455A	p.E819K	TEIQLPSQSPVEEQSPASLSSLRSR	TEIQLPSQSPVEKQSPASLSSLRSR	9.0	9.0	-	-	4155_13:76395560-76395560 G>A_TEIQLPSQSPVEKQSPASLSSLRSR
11:56949960-56949960 C>T	0.0	4155	MELANOMA	-	-	-	-	LRRC55	ENST00000497933,p.P198L|NM_001005210,p.P198L|uc001njl.2,p.P198L	protein_coding	uc001njl.2	nonsynonymous SNV	exon1	c.C593T	p.P198L	DLSHNPWLRRVHPQAFQGLMQLRDL	DLSHNPWLRRVHLQAFQGLMQLRDL	1.0	3.0	unscreened	-	4155_11:56949960-56949960 C>T_DLSHNPWLRRVHLQAFQGLMQLRDL
6:28540559-28540559 G>A	0.0	4155	MELANOMA	-	-	-	-	ZBED9	uc003nlo.3,p.S1036L|NM_052923,p.S1036L|ENST00000452236,p.S1036L	protein_coding, processed_transcript	uc003nlo.3	nonsynonymous SNV	exon4	c.C3107T	p.S1036L	KIVNYIKSNSLNSRLFSLLCDNMEA	KIVNYIKSNSLNLRLFSLLCDNMEA	1.0	1.0	unscreened	-	4155_6:28540559-28540559 G>A_KIVNYIKSNSLNLRLFSLLCDNMEA
15:68379077-68379096 CCACCAGTCTAGGTAAGATT>-	0.0	4155	MELANOMA	-	-	-	-	PIAS1	uc010ujx.2,p.153_157del|uc002aqz.3,p.153_157del|ENST00000249636,p.153_157del|ENST00000545237,p.155_159del|NM_016166,p.153_157del	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ujx.2	nonframeshift deletion	exon2	c.458_469del	p.153_157del	LPFYDLLDELIKPTSLASDNSQRFR	LPFYDLLDELIKPSDNSQRFRETCF	7.0	1.0	unscreened	-	4155_15:68379077-68379096 CCACCAGTCTAGGTAAGATT>-_LPFYDLLDELIKPSDNSQRFRETCF
X:51150379-51150379 C>T	0.0	4155	MELANOMA	-	-	-	-	CXorf67	NM_203407,p.P171S|ENST00000342995,p.P171S	protein_coding	NM_203407	nonsynonymous SNV	exon1	c.C511T	p.P171S	AQKPPGRRLFPEPLPPSSPGFRPSS	AQKPPGRRLFPESLPPSSPGFRPSS	4.0	10.0	unscreened	-	4155_X:51150379-51150379 C>T_AQKPPGRRLFPESLPPSSPGFRPSS
15:50875305-50875305 G>A	0.0	4155	MELANOMA	-	-	-	-	TRPM7	uc001zyt.4,p.S1513F|NM_001301212,p.S1512F|ENST00000313478,p.S1513F|ENST00000560955,p.S1512F|NM_017672,p.S1513F	retained_intron, protein_coding, processed_transcript	uc001zyt.4	nonsynonymous SNV	exon29	c.C4538T	p.S1513F	RRPSTEDTHEVDSKAALIPDWLQDR	RRPSTEDTHEVDFKAALIPDWLQDR	8.0	1.0	-	-	4155_15:50875305-50875305 G>A_RRPSTEDTHEVDFKAALIPDWLQDR
19:7056508-7056508 C>T	0.0	4155	MELANOMA	-	-	-	-	MBD3L3	uc021uns.1,p.G151E|NM_001164425,p.G151E|ENST00000333843,p.G151E	protein_coding	uc021uns.1	nonsynonymous SNV	exon2	c.G452A	p.G151E	LEPTPGRFPAVAGGPTPGMGCQLPP	LEPTPGRFPAVAEGPTPGMGCQLPP	1.0	1.0	unscreened	-	4155_19:7056508-7056508 C>T_LEPTPGRFPAVAEGPTPGMGCQLPP
X:78427259-78427259 T>C	0.0	4155	MELANOMA	-	-	-	-	GPR174	ENST00000276077,p.L252S|uc004edg.1,p.L252S|NM_032553,p.L252S	protein_coding	uc004edg.1	nonsynonymous SNV	exon1	c.T755C	p.L252S	LICFAPYHFSFPLDFLVKSNEIKSC	LICFAPYHFSFPSDFLVKSNEIKSC	1.0	10.0	unscreened	-	4155_X:78427259-78427259 T>C_LICFAPYHFSFPSDFLVKSNEIKSC
1:32256329-32256329 G>A	1.0	4155	MELANOMA	0.0027	-	-	-	SPOCD1	NM_001281988,p.P656S|NM_144569,p.P1176S|uc001btv.3,p.P656S|uc001btu.3,p.P1163S|uc001bts.1,p.P1176S|ENST00000533231,p.P1163S|NM_001281987,p.P1163S|ENST00000452755,p.P599S|ENST00000360482,p.P1176S|ENST00000257100,p.P656S	retained_intron, protein_coding	uc001btv.3	nonsynonymous SNV	exon15	c.C1966T	p.P656S	QALLCPQTKSSIPRPLQRLSSALAA	QALLCPQTKSSISRPLQRLSSALAA	6.0	10.0	-	-	4155_1:32256329-32256329 G>A_QALLCPQTKSSISRPLQRLSSALAA
6:30675441-30675441 C>T	1.0	4155	MELANOMA	-	-	-	-	MDC1	ENST00000376406,p.G972E|uc003nrg.4,p.G972E|NM_014641,p.G972E	retained_intron, protein_coding, processed_transcript	uc003nrg.4	nonsynonymous SNV	exon8	c.G2915A	p.G972E	GQASSPTPEPGVGAGDLPGPTSAPV	GQASSPTPEPGVEAGDLPGPTSAPV	8.0	9.0	-	-	4155_6:30675441-30675441 C>T_GQASSPTPEPGVEAGDLPGPTSAPV
12:7188356-7188356 C>T	0.0	4155	MELANOMA	-	-	-	-	C1R	ENST00000542285,p.G481E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000542285	nonsynonymous SNV	exon11	c.G1442A	p.G481E	LGHTNVEELMKLGNHPIRRVSVHPD	LGHTNVEELMKLENHPIRRVSVHPD	9.0	3.0	unscreened	-	4155_12:7188356-7188356 C>T_LGHTNVEELMKLENHPIRRVSVHPD
20:46300969-46300969 C>T	0.0	4155	MELANOMA	-	-	-	-	SULF2	ENST00000361612,p.G517R|NM_198596,p.G517R|uc002xtr.3,p.G517R|uc002xto.3,p.G517R|uc002xtq.3,p.G517R|NM_018837,p.G517R|ENST00000359930,p.G517R|ENST00000467815,p.G517R|ENST00000484875,p.G517R|NM_001161841,p.G517R	retained_intron, protein_coding, processed_transcript	uc002xtr.3	nonsynonymous SNV	exon11	c.G1549A	p.G517R	TCDSGDYKLSLAGRRKKLFKKKYKA	TCDSGDYKLSLARRRKKLFKKKYKA	8.0	8.0	unscreened	-	4155_20:46300969-46300969 C>T_TCDSGDYKLSLARRRKKLFKKKYKA
15:48787340-48787340 G>A	0.0	4155	MELANOMA	-	-	ID=COSM189629;OCCURENCE=1(large_intestine)	-	FBN1	ENST00000316623,p.P886L|uc001zwx.2,p.P886L|NM_000138,p.P886L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zwx.2	nonsynonymous SNV	exon22	c.C2657T	p.P886L	QCCSSLGAAWGSPCTLCQVDPICGK	QCCSSLGAAWGSLCTLCQVDPICGK	5.0	9.0	-	-	4155_15:48787340-48787340 G>A_QCCSSLGAAWGSLCTLCQVDPICGK
3:195513727-195513727 G>A	0.0	4155	MELANOMA	-	-	-	2	MUC4	ENST00000479406,p.S1575F|ENST00000462323,p.S1575F|NM_018406,p.S1575F|uc021xjp.1,p.S1575F|ENST00000478156,p.S1575F|ENST00000475231,p.S1575F|ENST00000466475,p.S1575F|ENST00000477756,p.S1575F|ENST00000480843,p.S1575F|ENST00000463781,p.S1575F|ENST00000470451,p.S1575F|ENST00000477086,p.S1575F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C4724T	p.S1575F	TGHTTPLPVTSPSSASTGHTTPLPV	TGHTTPLPVTSPFSASTGHTTPLPV	1.0	1.0	unscreened	-	4155_3:195513727-195513727 G>A_TGHTTPLPVTSPFSASTGHTTPLPV
1:26627455-26627455 G>A	0.0	4155	MELANOMA	-	-	-	-	UBXN11	uc001bly.3,p.S54F|ENST00000314675,p.S54F|ENST00000421827,p.S54F|ENST00000374221,p.S54F|ENST00000423664,p.S16F|uc001blw.3,p.S54F|ENST00000374215,p.S16F|NM_001077262,p.S54F|NM_183008,p.S54F|ENST00000374222,p.S54F	retained_intron, protein_coding	uc001bly.3	nonsynonymous SNV	exon4	c.C161T	p.S54F	DGCGSEEKISVPSCYGGIGAPVSRQ	DGCGSEEKISVPFCYGGIGAPVSRQ	10.0	3.0	-	-	4155_1:26627455-26627455 G>A_DGCGSEEKISVPFCYGGIGAPVSRQ
2:227924235-227924235 C>T	0.0	4155	MELANOMA	-	-	-	-	COL4A4	uc021vxs.1,p.G757R|ENST00000396625,p.G757R|uc021vxr.1,p.G757R|ENST00000329662,p.G757R|NM_000092,p.G757R	protein_coding	uc021vxs.1	nonsynonymous SNV	exon28	c.G2269A	p.G757R	GPPGSPGVNGQKGIPGDPAFGHLGP	GPPGSPGVNGQKRIPGDPAFGHLGP	1.0	9.0	unscreened	-	4155_2:227924235-227924235 C>T_GPPGSPGVNGQKRIPGDPAFGHLGP
19:57333101-57333101 G>A	0.0	4155	MELANOMA	-	-	-	-	PEG3,ZIM2	NM_001146187,p.S71F|NM_001146184,p.S196F|NM_006210,p.S196F|NM_001146326,p.S71F|ENST00000598410,p.S71F|uc002qnt.2,p.S197F|ENST00000599577,p.S196F|ENST00000221722,p.S71F|ENST00000599935,p.S71F|uc010ygs.1,p.S71F|uc002qnv.2,p.S196F|NM_001146185,p.S70F|uc002qnw.2,p.S71F|ENST00000599534,p.S196F|uc010etr.2,p.S196F|ENST00000597281,p.S71F|uc002qnu.2,p.S196F|uc002qnq.2,p.S71F|uc002qnr.2,p.S71F|uc002qnx.2,p.S70F|uc010etp.2,p.S71F|NM_015363,p.S71F|NM_001146327,p.S71F|ENST00000423103,p.S196F|NM_001146186,p.S196F|ENST00000601070,p.S71F|ENST00000593711,p.S71F|ENST00000391708,p.S71F|ENST00000326441,p.S196F|ENST00000600833,p.S71F|ENST00000593695,p.S70F|ENST00000595671,p.S71F	protein_coding, processed_transcript	uc010ygs.1	nonsynonymous SNV	exon6	c.C212T	p.S71F	RNPRSRMPPRDLSLPVVAKTSFEMD	RNPRSRMPPRDLFLPVVAKTSFEMD	2.0	8.0	unscreened	-	4155_19:57333101-57333101 G>A_RNPRSRMPPRDLFLPVVAKTSFEMD
9:39078720-39078720 G>A	0.0	4155	MELANOMA	-	rs75327168	-	-	CNTNAP3	uc004abj.3,p.R1133W|ENST00000297668,p.R1214W|NM_033655,p.R1214W|ENST00000377656,p.R1133W|uc004abi.3,p.R1214W	protein_coding, processed_transcript, nonsense_mediated_decay	uc004abj.3	nonsynonymous SNV	exon21	c.C3397T	p.R1133W	RCAAGAASGSPARELAPRLAGGAGR	RCAAGAASGSPAWELAPRLAGGAGR	2.0	1.0	unscreened	-	4155_9:39078720-39078720 G>A_RCAAGAASGSPAWELAPRLAGGAGR
1:248551059-248551066 CATAGACC>-	0.0	4155	MELANOMA	-	-	-	-	OR2T6	uc001iei.1,p.N50fs|NM_001005471,p.N50fs|ENST00000355728,p.N50fs	protein_coding	uc001iei.1	frameshift deletion	exon1	c.150_157del	p.N50fs	AMIANGVMIFLINIDPHLHTPMYFL	AMIANGVMIFLINSSPHPHVLPPQPPLRH	1.0	1.0	unscreened	-	4155_1:248551059-248551066 CATAGACC>-_AMIANGVMIFLINSSPHPHVLPPQPPLRH
12:81768465-81768465 G>A	0.0	4155	MELANOMA	-	-	-	-	PPFIA2	NM_001220478,p.T306I|NM_001220477,p.T331I|uc031qim.1,p.T405I|uc031qiu.1,p.T331I|ENST00000552948,p.T405I|NM_001220474,p.T387I|uc031qil.1,p.T306I|uc031qiq.1,p.T387I|uc031qin.1,p.T387I|NM_001282536,p.T252I|uc031qis.1,p.T405I|ENST00000407050,p.T331I|uc031qio.1,p.T405I|ENST00000443686,p.T306I|uc031qiw.1,p.T405I|uc031qiv.1,p.T306I|ENST00000548586,p.T405I|uc031qik.1,p.T331I|ENST00000550359,p.T252I|ENST00000550584,p.T405I|NM_001220476,p.T405I|uc031qiy.1,p.T405I|ENST00000549396,p.T405I|uc031qix.1,p.T405I|uc031qip.1,p.T405I|ENST00000333447,p.T387I|NM_001220475,p.T405I|ENST00000549325,p.T387I|NM_003625,p.T405I|NM_001220473,p.T405I|uc031qir.1,p.T405I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qiy.1	nonsynonymous SNV	exon9	c.C1214T	p.T405I	EQKLQQTMRKAETLPEVEAELAQRI	EQKLQQTMRKAEILPEVEAELAQRI	4.0	5.0	-	-	4155_12:81768465-81768465 G>A_EQKLQQTMRKAEILPEVEAELAQRI
7:143747613-143747613 G>A	0.0	4155	MELANOMA	-	-	-	-	OR2A5	NM_012365,p.G40E|uc011ktw.2,p.G40E|ENST00000408906,p.G40E	protein_coding	uc011ktw.2	nonsynonymous SNV	exon1	c.G119A	p.G40E	GLFSLLYVFTLLGNGAILGLIWLDS	GLFSLLYVFTLLENGAILGLIWLDS	1.0	10.0	unscreened	-	4155_7:143747613-143747613 G>A_GLFSLLYVFTLLENGAILGLIWLDS
1:23281842-23281842 C>T	0.0	4155	MELANOMA	-	-	-	-	LACTBL1	ENST00000426928,p.D211N	protein_coding	ENST00000426928	nonsynonymous SNV	exon5	c.G631A	p.D211N	GSTQEALNLLKDDVLVVDPGTRCHY	GSTQEALNLLKDNVLVVDPGTRCHY	1.0	2.0	unscreened	-	4155_1:23281842-23281842 C>T_GSTQEALNLLKDNVLVVDPGTRCHY
11:5080196-5080196 T>A	0.0	4155	MELANOMA	-	-	-	-	OR52E2	ENST00000321522,p.H221L|uc010qyw.2,p.H221L|NM_001005164,p.H221L	protein_coding	uc010qyw.2	nonsynonymous SNV	exon1	c.A662T	p.H221L	VFDITVIALSYVHILCAVFRLPTHE	VFDITVIALSYVLILCAVFRLPTHE	1.0	6.0	unscreened	-	4155_11:5080196-5080196 T>A_VFDITVIALSYVLILCAVFRLPTHE
17:2966010-2966010 C>T	0.0	4155	MELANOMA	-	-	-	-	OR1D5	NM_014566,p.G298R|ENST00000575751,p.G298R|uc021tns.1,p.G298R	protein_coding	uc021tns.1	nonsynonymous SNV	exon1	c.G892A	p.G298R	PFIYRLRNKDMHGAPGRVLWRPFQR	PFIYRLRNKDMHRAPGRVLWRPFQR	1.0	2.0	unscreened	-	4155_17:2966010-2966010 C>T_PFIYRLRNKDMHRAPGRVLWRPFQR
17:37922630-37922630 G>A	0.0	4155	MELANOMA	-	-	-	-	IKZF3	ENST00000583368,p.L68F|uc002hta.4,p.L237F|uc002hsv.4,p.L242F|NM_183232,p.L237F|ENST00000351680,p.L276F|uc010wel.3,p.L68F|NM_001257413,p.L94F|ENST00000439167,p.L242F|NM_001257414,p.L181F|uc010cwe.4,p.L181F|ENST00000377952,p.L94F|NM_001284516,p.L68F|ENST00000377958,p.L228F|ENST00000346872,p.L315F|NM_183231,p.L220F|uc002hsu.4,p.L315F|NM_012481,p.L315F|NM_001257409,p.L242F|NM_001257408,p.L281F|NM_001257411,p.L172F|ENST00000467757,p.L259F|ENST00000394189,p.L133F|NM_001284515,p.L68F|uc002htc.4,p.L68F|ENST00000535189,p.L281F|uc002htd.4,p.L281F|uc010cwh.4,p.L228F|uc002hsw.4,p.L276F|ENST00000377945,p.L181F|NM_001257410,p.L228F|uc002hsy.4,p.L276F|uc010cwd.4,p.L172F|NM_183229,p.L276F|NM_183228,p.L259F|ENST00000439016,p.L220F|uc002hsz.4,p.L220F|uc010cwg.4,p.L94F|ENST00000377944,p.L172F|NM_183230,p.L276F|NM_001257412,p.L133F|uc010cwf.4,p.L133F|uc002hsx.4,p.L259F|ENST00000346243,p.L237F|NM_001284514,p.L68F|ENST00000350532,p.L276F	protein_coding, nonsense_mediated_decay	uc010wel.3	nonsynonymous SNV	exon3	c.C202T	p.L68F	MMDQAINNAISYLGAEALRPLVQTP	MMDQAINNAISYFGAEALRPLVQTP	3.0	8.0	unscreened	-	4155_17:37922630-37922630 G>A_MMDQAINNAISYFGAEALRPLVQTP
11:31086667-31086667 C>T	0.0	4155	MELANOMA	-	-	-	-	DCDC5,DCDC1	uc009yjl.1,p.E154K|ENST00000597505,p.E778K|uc001msu.2,p.E397K|uc009yjk.1,p.E226K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009yjl.1	nonsynonymous SNV	exon9	c.G460A	p.E154K	KAYPQFVLTYLEELNAQVDVTQTEY	KAYPQFVLTYLEKLNAQVDVTQTEY	1.0	10.0	unscreened	-	4155_11:31086667-31086667 C>T_KAYPQFVLTYLEKLNAQVDVTQTEY
11:6566964-6566964 T>A	0.0	4155	MELANOMA	-	-	-	-	DNHD1	ENST00000254579,p.F1599I|NM_144666,p.F1599I|uc001mds.1,p.F309I|uc001mdw.4,p.F1599I|ENST00000527990,p.F1599I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001mdw.4	nonsynonymous SNV	exon21	c.T4795A	p.F1599I	LLEQHQVSDLTDFHWVRQLKYHLGS	LLEQHQVSDLTDIHWVRQLKYHLGS	8.0	8.0	-	-	4155_11:6566964-6566964 T>A_LLEQHQVSDLTDIHWVRQLKYHLGS
2:211460223-211460223 C>T	0.0	4155	MELANOMA	-	-	-	-	CPS1	ENST00000233072,p.L426F|uc010fur.3,p.L432F|uc002vee.4,p.L426F|ENST00000430249,p.L432F|NM_001122633,p.L432F|NM_001875,p.L426F	retained_intron, protein_coding, processed_transcript	uc010fur.3	nonsynonymous SNV	exon14	c.C1294T	p.L432F	ALVASRVEVSKVLILGSGGLSIGQA	ALVASRVEVSKVFILGSGGLSIGQA	6.0	6.0	-	-	4155_2:211460223-211460223 C>T_ALVASRVEVSKVFILGSGGLSIGQA
2:233413371-233413371 G>A	1.0	4155	MELANOMA	-	-	-	-	TIGD1	uc002vsy.2,p.P408S|ENST00000408957,p.P408S|NM_145702,p.P408S	protein_coding	uc002vsy.2	nonsynonymous SNV	exon1	c.C1222T	p.P408S	LSTLTGVWKKLIPTLIDDYEGFKTS	LSTLTGVWKKLISTLIDDYEGFKTS	7.0	10.0	-	-	4155_2:233413371-233413371 G>A_LSTLTGVWKKLISTLIDDYEGFKTS
4:126371274-126371274 G>T	0.0	4155	MELANOMA	-	-	-	1	FAT4	ENST00000335110,p.D1333Y|NM_001291303,p.D3037Y|uc011cgp.2,p.D1333Y|uc003ifi.1,p.D513Y|NM_024582,p.D3035Y|ENST00000394329,p.D3035Y|NM_001291285,p.D3037Y|uc003ifj.4,p.D3035Y	retained_intron, protein_coding	uc011cgp.2	nonsynonymous SNV	exon9	c.G3997T	p.D1333Y	ISNDNHLGKFKLDNDTGWISVASSL	ISNDNHLGKFKLYNDTGWISVASSL	1.0	3.0	unscreened	-	4155_4:126371274-126371274 G>T_ISNDNHLGKFKLYNDTGWISVASSL
17:50008401-50008401 C>T	0.0	4155	MELANOMA	-	-	-	-	CA10	ENST00000451037,p.M76I|uc002itv.4,p.M82I|NM_020178,p.M76I|ENST00000340813,p.M82I|NM_001082534,p.M76I|uc002ity.4,p.M76I|ENST00000285273,p.M76I|ENST00000442502,p.M76I|NM_001082533,p.M76I|uc002itx.4,p.M76I|uc002itw.4,p.M76I|ENST00000575181,p.M76I|uc002itz.2,p.M76I	protein_coding, processed_transcript, nonsense_mediated_decay	uc002itz.2	nonsynonymous SNV	exon4	c.G228A	p.M76I	KRQSPVNIETSHMIFDPFLTPLRIN	KRQSPVNIETSHIIFDPFLTPLRIN	1.0	4.0	unscreened	-	4155_17:50008401-50008401 C>T_KRQSPVNIETSHIIFDPFLTPLRIN
14:77229267-77229267 G>A	0.0	4155	MELANOMA	-	-	-	-	VASH1	NM_014909,p.E35K|uc001xss.3,p.E35K|uc001xst.2,p.E35K|ENST00000167106,p.E35K|ENST00000554237,p.E35K	protein_coding, processed_transcript, nonsense_mediated_decay	uc001xst.2	nonsynonymous SNV	exon1	c.G103A	p.E35K	TAPSGVRRLETSEGTSAQRDEEPEE	TAPSGVRRLETSKGTSAQRDEEPEE	8.0	1.0	unscreened	-	4155_14:77229267-77229267 G>A_TAPSGVRRLETSKGTSAQRDEEPEE
X:51150380-51150380 C>T	0.0	4155	MELANOMA	-	-	-	-	CXorf67	NM_203407,p.P171L|ENST00000342995,p.P171L	protein_coding	NM_203407	nonsynonymous SNV	exon1	c.C512T	p.P171L	AQKPPGRRLFPEPLPPSSPGFRPSS	AQKPPGRRLFPELLPPSSPGFRPSS	4.0	10.0	unscreened	-	4155_X:51150380-51150380 C>T_AQKPPGRRLFPELLPPSSPGFRPSS
3:169639070-169639070 C>T	0.0	4155	MELANOMA	-	-	-	-	SAMD7	NM_182610,p.S52F|ENST00000335556,p.S52F|uc003fge.3,p.S52F|ENST00000487910,p.S52F|uc003fgd.3,p.S52F|ENST00000428432,p.S52F	protein_coding, nonsense_mediated_decay	uc003fge.3	nonsynonymous SNV	exon4	c.C155T	p.S52F	DPRQFCVPSQFGSSVLPNTNMANVL	DPRQFCVPSQFGFSVLPNTNMANVL	1.0	3.0	unscreened	-	4155_3:169639070-169639070 C>T_DPRQFCVPSQFGFSVLPNTNMANVL
12:55863678-55863678 G>A	0.0	4155	MELANOMA	-	-	-	-	OR6C70	NM_001005499,p.T82I|ENST00000327335,p.T82I|uc010spn.2,p.T82I	protein_coding	uc010spn.2	nonsynonymous SNV	exon1	c.C245T	p.T82I	SFTTACIPRFLITIVTREKTISCNG	SFTTACIPRFLIIIVTREKTISCNG	1.0	2.0	unscreened	-	4155_12:55863678-55863678 G>A_SFTTACIPRFLIIIVTREKTISCNG
10:61423990-61423990 G>A	0.0	4155	MELANOMA	-	-	-	-	SLC16A9	uc010qig.1,p.S144L|ENST00000395348,p.S144L|ENST00000395347,p.S144L|NM_194298,p.S144L	protein_coding	uc010qig.1	nonsynonymous SNV	exon4	c.C431T	p.S144L	FDDRRGLALGLISTGSSVGLFIYAA	FDDRRGLALGLILTGSSVGLFIYAA	1.0	8.0	unscreened	-	4155_10:61423990-61423990 G>A_FDDRRGLALGLILTGSSVGLFIYAA
1:233394592-233394592 C>T	0.0	4155	MELANOMA	-	-	-	-	PCNXL2	uc001hvl.2,p.G339E|ENST00000258229,p.G339E|NM_014801,p.G339E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001hvl.2	nonsynonymous SNV	exon5	c.G1016A	p.G339E	ADTSCQVDTSCQGDLPLHQEVDSSD	ADTSCQVDTSCQEDLPLHQEVDSSD	10.0	8.0	unscreened	-	4155_1:233394592-233394592 C>T_ADTSCQVDTSCQEDLPLHQEVDSSD
12:10962107-10962107 G>A	0.0	4155	MELANOMA	-	-	-	-	TAS2R9	ENST00000240691,p.P190S|uc001qyx.3,p.P190S|NM_023917,p.P190S	protein_coding	uc001qyx.3	nonsynonymous SNV	exon1	c.C568T	p.P190S	FKQLTLNLGVMVPFILCLISFFLLL	FKQLTLNLGVMVSFILCLISFFLLL	1.0	2.0	unscreened	-	4155_12:10962107-10962107 G>A_FKQLTLNLGVMVSFILCLISFFLLL
4:175897262-175897262 C>T	0.0	4155	MELANOMA	-	-	-	-	ADAM29	NM_001130703,p.H196Y|NM_001278127,p.H196Y|uc031shu.1,p.H196Y|ENST00000404450,p.H196Y|uc011cki.2,p.H196Y|uc010irr.3,p.H196Y|uc003iuc.3,p.H196Y|NM_001130704,p.H196Y|ENST00000514159,p.H196Y|uc031shw.1,p.H196Y|uc031shv.1,p.H196Y|uc021xuo.1,p.H196Y|NM_001278125,p.H196Y|NM_001130705,p.H196Y|ENST00000445694,p.H196Y|NM_014269,p.H196Y|ENST00000359240,p.H196Y|NM_001278126,p.H196Y|uc003iud.3,p.H196Y	retained_intron, protein_coding, processed_transcript	uc031shw.1	nonsynonymous SNV	exon2	c.C586T	p.H196Y	TQKQSSYVGWWIHFRIVEIVVVIDN	TQKQSSYVGWWIYFRIVEIVVVIDN	1.0	10.0	unscreened	-	4155_4:175897262-175897262 C>T_TQKQSSYVGWWIYFRIVEIVVVIDN
19:37210633-37210633 C>T	0.0	4155	MELANOMA	-	-	ID=COSM286928;OCCURENCE=1(large_intestine),1(skin)	-	ZNF567	uc002oeq.1,p.S305L|uc002oeo.1,p.S336L|uc002oep.4,p.S305L|ENST00000588311,p.S305L|NM_001300979,p.S336L|uc010xtl.2,p.S336L|NM_152603,p.S305L|ENST00000360729,p.S305L|ENST00000536254,p.S336L|uc010xtk.1,p.S336L|ENST00000585696,p.S305L|ENST00000392163,p.S305L	retained_intron, protein_coding, nonsense_mediated_decay	uc010xtl.2	nonsynonymous SNV	exon6	c.C1007T	p.S336L	LTDHQRTHTGEKSYECLQCRNAFRL	LTDHQRTHTGEKLYECLQCRNAFRL	6.0	2.0	unscreened	-	4155_19:37210633-37210633 C>T_LTDHQRTHTGEKLYECLQCRNAFRL
8:104831800-104831800 C>T	0.0	4155	MELANOMA	-	-	ID=COSM125861;OCCURENCE=1(upper_aerodigestive_tract)	-	RIMS2	ENST00000515551,p.S22L|uc003ylr.3,p.S22L|uc003ylq.3,p.S22L|uc003ylw.2,p.S22L|ENST00000262231,p.S22L|NM_001282881,p.S22L|ENST00000408894,p.S22L|ENST00000507740,p.S22L|NM_014677,p.S22L	retained_intron, protein_coding, processed_transcript	uc003ylw.2	nonsynonymous SNV	exon1	c.C65T	p.S22L	CNSVLSHFHGVFSSPPNILQNELFG	CNSVLSHFHGVFLSPPNILQNELFG	1.0	2.0	unscreened	-	4155_8:104831800-104831800 C>T_CNSVLSHFHGVFLSPPNILQNELFG
1:158687706-158687706 G>A	0.0	4155	MELANOMA	-	-	ID=COSM136179;OCCURENCE=1(skin)	-	OR6K3	NM_001005327,p.S67F|ENST00000368146,p.S83F|uc021pbn.1,p.S67F|ENST00000368145,p.S67F	protein_coding	uc021pbn.1	nonsynonymous SNV	exon1	c.C200T	p.S67F	LHNPMYNFISIFSFLEIWYTTATIP	LHNPMYNFISIFFFLEIWYTTATIP	1.0	7.0	unscreened	-	4155_1:158687706-158687706 G>A_LHNPMYNFISIFFFLEIWYTTATIP
5:156934131-156934131 C>T	0.0	4155	MELANOMA	-	-	-	-	ADAM19	ENST00000517905,p.G308D|uc003lwz.4,p.G308D|ENST00000257527,p.G308D|uc003lww.3,p.G41D|NM_033274,p.G308D|uc011ddr.1,p.G239D|ENST00000394020,p.G310D|ENST00000430702,p.G41D	retained_intron, protein_coding, nonsense_mediated_decay	uc011ddr.1	nonsynonymous SNV	exon10	c.G716A	p.G239D	DNAQLITGMSFHGTTIGLAPLMAMC	DNAQLITGMSFHDTTIGLAPLMAMC	4.0	10.0	-	-	4155_5:156934131-156934131 C>T_DNAQLITGMSFHDTTIGLAPLMAMC
20:47991189-47991189 C>T	0.0	4155	MELANOMA	-	-	ID=COSM1027866;OCCURENCE=1(endometrium),1(large_intestine)	-	KCNB1	uc002xur.1,p.R303Q|uc002xus.1,p.R303Q|ENST00000371741,p.R303Q|NM_004975,p.R303Q	protein_coding	uc002xus.1	nonsynonymous SNV	exon3	c.G908A	p.R303Q	NVRRVVQIFRIMRILRILKLARHST	NVRRVVQIFRIMQILRILKLARHST	1.0	6.0	unscreened	-	4155_20:47991189-47991189 C>T_NVRRVVQIFRIMQILRILKLARHST
4:126369865-126369865 C>T	0.0	4155	MELANOMA	-	-	-	1	FAT4	uc003ifi.1,p.P43L|ENST00000394329,p.P2565L|NM_001291303,p.P2567L|NM_001291285,p.P2567L|ENST00000335110,p.P863L|NM_024582,p.P2565L|uc003ifj.4,p.P2565L|uc011cgp.2,p.P863L	retained_intron, protein_coding	uc011cgp.2	nonsynonymous SNV	exon9	c.C2588T	p.P863L	TVTVRFVNKADFPKVRAKEQTFMFP	TVTVRFVNKADFLKVRAKEQTFMFP	1.0	2.0	unscreened	-	4155_4:126369865-126369865 C>T_TVTVRFVNKADFLKVRAKEQTFMFP
1:118476110-118476110 G>T	0.0	4155	MELANOMA	-	-	-	-	WDR3	ENST00000349139,p.E56D|uc010oxe.1,p.E56D|NM_006784,p.E56D	protein_coding, processed_transcript	uc010oxe.1	nonsynonymous SNV	exon2	c.G168T	p.E56D	CEHVFIWDLRKGEKILILQGLKQEV	CEHVFIWDLRKGDKILILQGLKQEV	7.0	8.0	-	-	4155_1:118476110-118476110 G>T_CEHVFIWDLRKGDKILILQGLKQEV
1:166974528-166974528 G>A	0.0	4155	MELANOMA	-	-	-	-	MAEL	uc021peh.1,p.D191N|uc001gdy.1,p.D247N|ENST00000367870,p.D216N|NM_001286378,p.D191N|ENST00000367872,p.D247N|ENST00000447624,p.D216N|uc001gdz.1,p.D216N|NM_001286377,p.D216N|NM_032858,p.D247N	protein_coding, processed_transcript	uc021peh.1	nonsynonymous SNV	exon9	c.G571A	p.D191N	EIRQDLQLLTVEDLVVGIYQQKFLK	EIRQDLQLLTVENLVVGIYQQKFLK	1.0	5.0	unscreened	-	4155_1:166974528-166974528 G>A_EIRQDLQLLTVENLVVGIYQQKFLK
8:139164248-139164248 C>T	0.0	4155	MELANOMA	-	-	-	2	FAM135B	uc003yva.3,p.G386R|ENST00000395297,p.G824R|uc003yvb.3,p.G386R|uc003yuy.3,p.G824R|ENST00000467365,p.G134R|NM_015912,p.G824R|uc003yux.3,p.G725R|ENST00000276737,p.G824R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yvb.3	nonsynonymous SNV	exon1	c.G1156A	p.G386R	CSQLCGDSGTDAGADHPLVEIVLDA	CSQLCGDSGTDARADHPLVEIVLDA	3.0	10.0	-	-	4155_8:139164248-139164248 C>T_CSQLCGDSGTDARADHPLVEIVLDA
19:58578703-58578703 C>T	0.0	4155	MELANOMA	-	-	-	-	ZNF135	ENST00000359978,p.P296L|uc010yhr.2,p.P105L|ENST00000506786,p.P242L|ENST00000401053,p.P308L|uc002qrd.2,p.P296L|ENST00000439855,p.P284L|NM_003436,p.P296L|uc002qrg.3,p.P308L|NM_007134,p.P308L|ENST00000313434,p.P284L|NM_001164530,p.P296L|NM_001289402,p.P242L|ENST00000511556,p.P296L|NM_001289401,p.P284L|uc010yhq.2,p.P296L|uc002qrf.3,p.P242L|uc002qre.3,p.P284L	protein_coding, nonsense_mediated_decay	uc010yhr.2	nonsynonymous SNV	exon3	c.C314T	p.P105L	CTQCGRTFNQIAPLIQHQRTHTGEK	CTQCGRTFNQIALLIQHQRTHTGEK	3.0	8.0	-	-	4155_19:58578703-58578703 C>T_CTQCGRTFNQIALLIQHQRTHTGEK
20:57767287-57767287 G>A	0.0	4155	MELANOMA	-	-	-	-	ZNF831	ENST00000371030,p.E405K|uc002yan.3,p.E405K|NM_178457,p.E405K	protein_coding	uc002yan.3	nonsynonymous SNV	exon1	c.G1213A	p.E405K	REAGLELEKKRLEERIAQLISHNQA	REAGLELEKKRLKERIAQLISHNQA	1.0	6.0	unscreened	-	4155_20:57767287-57767287 G>A_REAGLELEKKRLKERIAQLISHNQA
21:45389111-45389111 C>T	1.0	4155	MELANOMA	-	-	-	-	AGPAT3	NM_020132,p.T154I|ENST00000546158,p.T154I|uc002zdv.3,p.T154I|ENST00000422850,p.T154I|ENST00000457068,p.T154I|uc002zdw.3,p.T154I|ENST00000398061,p.T154I|NM_001037553,p.T154I|ENST00000398058,p.T154I|ENST00000291572,p.T154I|ENST00000327505,p.T154I|ENST00000398063,p.T154I|uc002zdy.3,p.T92I|uc002zdx.3,p.T241I	retained_intron, protein_coding, processed_transcript	uc002zdy.3	nonsynonymous SNV	exon4	c.C275T	p.T92I	VFCKRKWEEDRDTVVEGLRRLSDYP	VFCKRKWEEDRDIVVEGLRRLSDYP	8.0	7.0	-	-	4155_21:45389111-45389111 C>T_VFCKRKWEEDRDIVVEGLRRLSDYP
11:40136104-40136104 G>A	0.0	4155	MELANOMA	-	-	ID=COSM1353748;OCCURENCE=2(large_intestine)	-	LRRC4C	ENST00000528697,p.P580L|uc031pzt.1,p.P580L|uc001mxb.2,p.P576L|ENST00000527150,p.P580L|NM_020929,p.P580L|uc031pzu.1,p.P580L|ENST00000278198,p.P580L|uc021qgf.1,p.P580L|uc031pzs.1,p.P576L|NM_001258419,p.P580L|ENST00000530763,p.P580L	protein_coding, processed_transcript	uc031pzu.1	nonsynonymous SNV	exon5	c.C1739T	p.P580L	IINVDDEITGDTPMESHLPMPAIEH	IINVDDEITGDTLMESHLPMPAIEH	2.0	4.0	unscreened	-	4155_11:40136104-40136104 G>A_IINVDDEITGDTLMESHLPMPAIEH
11:4870050-4870050 C>T	0.0	4155	MELANOMA	-	-	-	-	OR51S1	ENST00000322101,p.R130Q|uc010qyo.2,p.R130Q|NM_001004758,p.R130Q	protein_coding	uc010qyo.2	nonsynonymous SNV	exon1	c.G389A	p.R130Q	MESSVLLAMSIDRALAICRPLHYPA	MESSVLLAMSIDQALAICRPLHYPA	1.0	4.0	unscreened	-	4155_11:4870050-4870050 C>T_MESSVLLAMSIDQALAICRPLHYPA
7:100187291-100187291 G>A	0.0	4155	MELANOMA	-	-	-	-	FBXO24	NM_012172,p.G10R|ENST00000427939,p.G10R|uc011kjz.1,p.G10R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kjz.1	nonsynonymous SNV	exon1	c.G28A	p.G10R	MVWESQQERGGQGPRRQEGRSR	MVWESQQERRGQGPRRQEGRSR	5.0	10.0	unscreened	-	4155_7:100187291-100187291 G>A_MVWESQQERRGQGPRRQEGRSR
15:81214356-81214356 G>A	0.0	4155	MELANOMA	-	-	ID=COSM138978;OCCURENCE=1(skin)	-	CEMIP	uc010unn.1,p.G694R|NM_001293298,p.G694R|NM_001293304,p.G694R|uc002bfw.1,p.G694R|ENST00000394685,p.G694R|NM_018689,p.G694R|ENST00000220244,p.G694R|ENST00000356249,p.G694R	retained_intron, protein_coding, nonsense_mediated_decay	uc010unn.1	nonsynonymous SNV	exon17	c.G2080A	p.G694R	LINCAAAGSEETGFWFIFHHVPTGP	LINCAAAGSEETRFWFIFHHVPTGP	2.0	3.0	unscreened	-	4155_15:81214356-81214356 G>A_LINCAAAGSEETRFWFIFHHVPTGP
11:73760453-73760453 G>A	0.0	4155	MELANOMA	-	-	ID=COSM364990,COSM364991;OCCURENCE=1(lung)	-	C2CD3	NM_015531,p.P1764S|uc001ouu.2,p.P1764S|ENST00000442398,p.P520S|ENST00000334126,p.P1764S|NM_001286577,p.P1764S|ENST00000313663,p.P1764S|ENST00000414160,p.P572S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ouu.2	nonsynonymous SNV	exon27	c.C5290T	p.P1764S	GECQGQIKVAVSPLESLIHFKEERQ	GECQGQIKVAVSSLESLIHFKEERQ	7.0	2.0	-	-	4155_11:73760453-73760453 G>A_GECQGQIKVAVSSLESLIHFKEERQ
15:80869278-80869278 C>T	0.0	4155	MELANOMA	-	-	-	-	ARNT2	uc002bfr.3,p.P529S|ENST00000303329,p.P529S|NM_014862,p.P529S|uc002bfs.3,p.P518S|ENST00000527771,p.P518S|ENST00000533983,p.P518S|uc010unm.2,p.P518S	retained_intron, protein_coding, processed_transcript	uc010unm.2	nonsynonymous SNV	exon15	c.C1552T	p.P518S	GTQQIYSQGSPFPSGHSGKAFSSSV	GTQQIYSQGSPFSSGHSGKAFSSSV	7.0	6.0	unscreened	-	4155_15:80869278-80869278 C>T_GTQQIYSQGSPFSSGHSGKAFSSSV
1:248651924-248651924 G>A	0.0	4155	MELANOMA	-	-	-	-	OR2T5	ENST00000366473,p.G12E|uc001iem.1,p.G12E|NM_001004697,p.G12E	protein_coding	uc001iem.1	nonsynonymous SNV	exon1	c.G35A	p.G12E	MANITRMANHTGKLDFILMGLFRR	MANITRMANHTEKLDFILMGLFRR	1.0	2.0	unscreened	-	4155_1:248651924-248651924 G>A_MANITRMANHTEKLDFILMGLFRR
X:130419143-130419143 C>T	0.0	4155	MELANOMA	-	-	-	-	IGSF1	NM_001170963,p.G226D|NM_205833,p.G226D|ENST00000370900,p.G226D|uc004ewg.3,p.G226D|uc022cdw.1,p.G226D|ENST00000370901,p.G226D	protein_coding, processed_transcript	uc022cdw.1	nonsynonymous SNV	exon5	c.G677A	p.G226D	SNPLKLVVAGGCGYGCWHLAIVVPG	SNPLKLVVAGGCDYGCWHLAIVVPG	1.0	10.0	unscreened	-	4155_X:130419143-130419143 C>T_SNPLKLVVAGGCDYGCWHLAIVVPG
1:201036109-201036109 C>T	0.0	4155	MELANOMA	-	-	-	-	CACNA1S	ENST00000367338,p.G855R|ENST00000362061,p.G855R|uc001gvv.3,p.G855R|NM_000069,p.G855R	protein_coding	uc001gvv.3	nonsynonymous SNV	exon20	c.G2563A	p.G855R	FTVEIVLKMTTYGAFLHKGSFCRNY	FTVEIVLKMTTYRAFLHKGSFCRNY	1.0	5.0	unscreened	-	4155_1:201036109-201036109 C>T_FTVEIVLKMTTYRAFLHKGSFCRNY
8:110520058-110520058 C>T	0.0	4155	MELANOMA	-	-	-	-	PKHD1L1	ENST00000378402,p.P3721S|NM_177531,p.P3721S|ENST00000526472,p.P649S|uc003yne.3,p.P3721S	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon69	c.C11161T	p.P3721S	GNSQVGIGDYRIPKAMLTFLNGSRI	GNSQVGIGDYRISKAMLTFLNGSRI	1.0	5.0	unscreened	-	4155_8:110520058-110520058 C>T_GNSQVGIGDYRISKAMLTFLNGSRI
18:52937124-52937124 C>T	0.0	4155	MELANOMA	-	-	-	-	TCF4	uc010xdv.1,p.G157D|ENST00000537856,p.G157D|uc021ukj.1,p.G227D|ENST00000457482,p.G127D|uc010dpi.3,p.G293D|ENST00000561831,p.G127D|ENST00000356073,p.G287D|ENST00000544241,p.G216D|ENST00000566279,p.G227D|uc021ukl.1,p.G285D|ENST00000566286,p.G285D|uc002lgc.4,p.G208D|ENST00000564999,p.G287D|ENST00000564228,p.G216D|NM_001243233,p.G157D|NM_001243228,p.G293D|ENST00000568673,p.G263D|NM_001243231,p.G245D|uc002lfz.2,p.G287D|ENST00000567880,p.G227D|uc010xdy.1,p.G263D|uc010xdx.1,p.G263D|NM_001243234,p.G127D|NM_001243230,p.G285D|ENST00000568740,p.G262D|NM_003199,p.G287D|ENST00000565018,p.G287D|NM_001243232,p.G216D|uc010dph.1,p.G287D|uc002lfx.2,p.G216D|ENST00000540999,p.G263D|uc021ukg.1,p.G127D|uc002lga.3,p.G389D|NM_001243226,p.G389D|uc002lfy.2,p.G245D|uc002lfw.4,p.G127D|ENST00000537578,p.G263D|uc021ukh.1,p.G127D|NM_001083962,p.G287D|NM_001243235,p.G127D|uc021uki.1,p.G216D|NM_001243227,p.G263D|ENST00000354452,p.G287D|uc010xdw.1,p.G157D|ENST00000398339,p.G389D|NM_001243236,p.G127D|ENST00000561992,p.G157D|ENST00000543082,p.G245D|uc021ukk.1,p.G227D|ENST00000564403,p.G293D|ENST00000570177,p.G157D|ENST00000570287,p.G127D|uc010xdu.1,p.G157D	retained_intron, protein_coding, processed_transcript	uc021ukl.1	nonsynonymous SNV	exon10	c.G854A	p.G285D	SSLPPMSTFHRSGTNHYSTSSCTPP	SSLPPMSTFHRSDTNHYSTSSCTPP	9.0	6.0	unscreened	-	4155_18:52937124-52937124 C>T_SSLPPMSTFHRSDTNHYSTSSCTPP
20:58519156-58519156 C>T	0.0	4155	MELANOMA	-	-	-	-	FAM217B	uc002yba.3,p.S53F|NM_001190826,p.S53F|ENST00000358293,p.S53F|uc002ybc.3,p.S53F|NM_022106,p.S53F|ENST00000360816,p.S53F|uc021wft.1,p.S53F	protein_coding, processed_transcript	uc021wft.1	nonsynonymous SNV	exon1	c.C158T	p.S53F	TQPTEEKLKESISPEARRKRNPLGS	TQPTEEKLKESIFPEARRKRNPLGS	8.0	6.0	unscreened	-	4155_20:58519156-58519156 C>T_TQPTEEKLKESIFPEARRKRNPLGS
1:47534399-47534399 G>A	0.0	4155	MELANOMA	-	-	-	-	CYP4Z1	NM_178134,p.D95N|uc001cqu.1,p.D95N|ENST00000334194,p.D95N	protein_coding, processed_transcript	uc001cqu.1	nonsynonymous SNV	exon2	c.G283A	p.D95N	WVGPFTMFFSVHDPDYAKILLKRQD	WVGPFTMFFSVHNPDYAKILLKRQD	1.0	9.0	unscreened	-	4155_1:47534399-47534399 G>A_WVGPFTMFFSVHNPDYAKILLKRQD
19:846304-846304 C>T	0.0	4155	MELANOMA	-	-	-	-	PRTN3	uc021umb.1,p.T135I|NM_002777,p.T176I|ENST00000544537,p.T135I|uc002lqa.1,p.T176I|ENST00000234347,p.T176I	retained_intron, protein_coding	uc021umb.1	nonsynonymous SNV	exon3	c.C404T	p.T135I	DPPAQVLQELNVTVVTFFCRPHNIC	DPPAQVLQELNVIVVTFFCRPHNIC	1.0	6.0	unscreened	-	4155_19:846304-846304 C>T_DPPAQVLQELNVIVVTFFCRPHNIC
3:63953636-63953644 CTGAAAGCT>-	0.0	4155	MELANOMA	-	-	-	-	ATXN7	ENST00000484332,p.17_19del|uc010hnw.3,p.17_19del|uc011bfn.2,p.17_19del|NM_001128149,p.17_19del	retained_intron, protein_coding, processed_transcript	uc011bfn.2	nonframeshift deletion	exon1	c.49_57del	p.17_19del	KTPLQSSPSAQELKAPLERRHSSSS	KTPLQSSPSAQEPLERRHSSSSKPP	7.0	1.0	-	-	4155_3:63953636-63953644 CTGAAAGCT>-_KTPLQSSPSAQEPLERRHSSSSKPP
1:149761849-149761849 G>A	0.0	4155	MELANOMA	-	-	-	-	FCGR1A	uc001esp.4,p.G267R|NM_000566,p.G267R|ENST00000369168,p.G267R|ENST00000444948,p.G175R	protein_coding, processed_transcript	uc001esp.4	nonsynonymous SNV	exon5	c.G799A	p.G267R	SGLYWCEAATEDGNVLKRSPELELQ	SGLYWCEAATEDRNVLKRSPELELQ	7.0	8.0	unscreened	-	4155_1:149761849-149761849 G>A_SGLYWCEAATEDRNVLKRSPELELQ
7:18993813-18993813 G>A	0.0	4155	MELANOMA	-	-	-	-	HDAC9	uc003suk.3,p.M239I|NM_178423,p.M991I|ENST00000432645,p.M991I|ENST00000401921,p.M950I|uc003suj.3,p.M950I|uc003sui.3,p.M994I|uc003sue.3,p.M991I|ENST00000441542,p.M994I|ENST00000406451,p.M991I|uc003suh.3,p.M991I|NM_178425,p.M994I|NM_058176,p.M991I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003suk.3	nonsynonymous SNV	exon8	c.G717A	p.M239I	PLAEDILHQSPNMNAVISLQKIIEI	PLAEDILHQSPNINAVISLQKIIEI	3.0	1.0	unscreened	-	4155_7:18993813-18993813 G>A_PLAEDILHQSPNINAVISLQKIIEI
5:76129241-76129241 G>A	0.0	4155	MELANOMA	0.01	rs2243062	ID=COSM260733;OCCURENCE=1(large_intestine)	-	F2RL1	uc003keo.3,p.R270Q|NM_005242,p.R270Q|ENST00000296677,p.R270Q	protein_coding	uc003keo.3	nonsynonymous SNV	exon2	c.G809A	p.R270Q	TASAYVLMIRMLRSSAMDENSEKKR	TASAYVLMIRMLQSSAMDENSEKKR	1.0	10.0	unscreened	-	4155_5:76129241-76129241 G>A_TASAYVLMIRMLQSSAMDENSEKKR
8:99962995-99962995 T>A	0.0	4155	MELANOMA	-	-	-	-	OSR2	ENST00000523368,p.F256L|uc010mbn.2,p.F256L	protein_coding, processed_transcript	uc010mbn.2	nonsynonymous SNV	exon3	c.T768A	p.F256L	AVHKTLHMQVSLFSCLKTVAGSCYH	AVHKTLHMQVSLLSCLKTVAGSCYH	4.0	8.0	-	-	4155_8:99962995-99962995 T>A_AVHKTLHMQVSLLSCLKTVAGSCYH
19:12244375-12244375 T>A	0.0	4155	MELANOMA	-	-	-	-	ZNF20	uc021upm.1,p.Y206F|NM_001203250,p.Y206F|NM_021143,p.Y209F|ENST00000334213,p.Y209F|uc002mtf.2,p.Y209F|uc002mte.2,p.Y174F|uc002mtg.2,p.Y209F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021upm.1	nonsynonymous SNV	exon4	c.A617T	p.Y206F	GPYKCKFCGKAFYFLNLCLIHERIH	GPYKCKFCGKAFFFLNLCLIHERIH	5.0	2.0	unscreened	-	4155_19:12244375-12244375 T>A_GPYKCKFCGKAFFFLNLCLIHERIH
2:39931334-39931334 C>T	0.0	4155	MELANOMA	-	-	-	-	TMEM178A	uc002rrt.3,p.H172Y|NM_152390,p.H172Y|ENST00000281961,p.H172Y	protein_coding, processed_transcript	uc002rrt.3	nonsynonymous SNV	exon2	c.C514T	p.H172Y	TKTIQQDEWHLLHLRRITAGFLGMA	TKTIQQDEWHLLYLRRITAGFLGMA	5.0	7.0	-	-	4155_2:39931334-39931334 C>T_TKTIQQDEWHLLYLRRITAGFLGMA
10:123274789-123274789 C>T	0.0	4155	MELANOMA	-	-	-	1	FGFR2	ENST00000357555,p.E288K|ENST00000351936,p.E377K|NM_023029,p.E288K|NM_022970,p.E378K|NM_001144919,p.E289K|ENST00000360144,p.E289K|uc021pzv.1,p.E265K|uc021pzz.1,p.E377K|uc021pzw.1,p.E262K|ENST00000346997,p.E377K|NM_001144915,p.E288K|uc021pzy.1,p.E378K|uc021qaa.1,p.E378K|ENST00000358487,p.E377K|NM_001144913,p.E378K|ENST00000478859,p.E149K|NM_001144914,p.E265K|uc031pxk.1,p.E288K|uc010qtm.2,p.E262K|ENST00000356226,p.E262K|uc021pzx.1,p.E288K|NM_000141,p.E377K|ENST00000336553,p.E288K|ENST00000369056,p.E378K|ENST00000457416,p.E378K|ENST00000369059,p.E263K|ENST00000369058,p.E378K|uc021qab.1,p.E289K|ENST00000369061,p.E265K|uc021qac.1,p.E308K|NM_001144918,p.E262K|NM_001144916,p.E262K	retained_intron, protein_coding, processed_transcript	uc031pxk.1	nonsynonymous SNV	exon7	c.G862A	p.E288K	REKEITASPDYLEIAIYCIGVFLIA	REKEITASPDYLKIAIYCIGVFLIA	1.0	7.0	unscreened	-	4155_10:123274789-123274789 C>T_REKEITASPDYLKIAIYCIGVFLIA
9:95778093-95778093 G>A	0.0	4155	MELANOMA	-	-	-	-	FGD3	NM_001286993,p.M419I|NM_033086,p.M419I|uc004ata.3,p.M222I|uc004asz.2,p.M419I|NM_001083536,p.M419I|ENST00000467786,p.M419I|ENST00000538555,p.M22I|uc004asx.2,p.M419I|uc004asw.2,p.M419I|ENST00000416701,p.M419I|ENST00000337352,p.M419I|ENST00000375482,p.M419I|uc011luc.1,p.M22I	protein_coding, processed_transcript, nonsense_mediated_decay	uc011luc.1	nonsynonymous SNV	exon2	c.G66A	p.M22I	RLMGQKFSVREKMDISGLQVQDIVK	RLMGQKFSVREKIDISGLQVQDIVK	6.0	10.0	unscreened	-	4155_9:95778093-95778093 G>A_RLMGQKFSVREKIDISGLQVQDIVK
6:53516499-53516499 G>A	0.0	4155	MELANOMA	-	-	-	-	KLHL31	NM_001003760,p.P601L|ENST00000407079,p.P601L|uc003pcb.4,p.P601L|ENST00000370905,p.P601L	protein_coding	uc003pcb.4	nonsynonymous SNV	exon3	c.C1802T	p.P601L	PELNEWTEDDELPEATVGVSCCTLS	PELNEWTEDDELLEATVGVSCCTLS	1.0	3.0	unscreened	-	4155_6:53516499-53516499 G>A_PELNEWTEDDELLEATVGVSCCTLS
19:53770893-53770893 C>T	0.0	4155	MELANOMA	-	-	-	-	VN1R4	NM_173857,p.G9E|ENST00000311170,p.G9E|uc010ydu.2,p.G9E	protein_coding	uc010ydu.2	nonsynonymous SNV	exon1	c.G26A	p.G9E	MASRYVAVGMILSQTVVGVLG	MASRYVAVEMILSQTVVGVLG	1.0	8.0	unscreened	-	4155_19:53770893-53770893 C>T_MASRYVAVEMILSQTVVGVLG
16:74753027-74753027 G>A	0.0	4155	MELANOMA	-	-	-	-	FA2H	ENST00000567683,p.S132F	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000567683	nonsynonymous SNV	exon3	c.C395T	p.S132F	DKSTRWQCPSPCSPGSSCWGHSSGA	DKSTRWQCPSPCFPGSSCWGHSSGA	1.0	9.0	unscreened	-	4155_16:74753027-74753027 G>A_DKSTRWQCPSPCFPGSSCWGHSSGA
11:100211918-100211918 C>T	0.0	4155	MELANOMA	-	-	-	-	CNTN5	uc021qpc.1,p.S930F|ENST00000528682,p.S1004F|uc021qpb.1,p.S1004F|uc001pga.3,p.S1004F|uc010ruk.2,p.S275F|NM_014361,p.S1004F|ENST00000418526,p.S930F|NM_001243270,p.S1004F|ENST00000524871,p.S1004F|ENST00000279463,p.S1004F|NM_175566,p.S930F	retained_intron, protein_coding, processed_transcript	uc021qpc.1	nonsynonymous SNV	exon20	c.C2789T	p.S930F	LGWEPVIPLANESEVVGYKVFYRQE	LGWEPVIPLANEFEVVGYKVFYRQE	1.0	8.0	unscreened	-	4155_11:100211918-100211918 C>T_LGWEPVIPLANEFEVVGYKVFYRQE
11:56043428-56043428 C>T	0.0	4155	MELANOMA	-	-	-	-	OR5T1	ENST00000313033,p.S105L|uc001nio.1,p.S105L|NM_001004745,p.S105L	protein_coding	uc001nio.1	nonsynonymous SNV	exon1	c.C314T	p.S105L	MLVNFLAKNKSISFLGCATQMFLAC	MLVNFLAKNKSILFLGCATQMFLAC	1.0	7.0	unscreened	-	4155_11:56043428-56043428 C>T_MLVNFLAKNKSILFLGCATQMFLAC
10:28272861-28272861 G>A	0.0	4155	MELANOMA	-	-	-	-	ARMC4	ENST00000305242,p.R244C|ENST00000434029,p.R138C|NM_018076,p.R244C|ENST00000239715,p.R101C|uc009xky.3,p.R244C|uc001itz.3,p.R244C|NM_001290020,p.R244C	protein_coding, processed_transcript	uc009xky.3	nonsynonymous SNV	exon6	c.C730T	p.R244C	SNGCRAPPWRQIRGEICYVLVKPHD	SNGCRAPPWRQICGEICYVLVKPHD	1.0	8.0	unscreened	-	4155_10:28272861-28272861 G>A_SNGCRAPPWRQICGEICYVLVKPHD
11:33886211-33886211 C>T	0.0	4155	MELANOMA	-	-	-	1	LMO2	uc001mvc.3,p.G58D|ENST00000395833,p.G65D|NM_005574,p.G134D|uc001mve.3,p.G65D|NM_001142316,p.G65D|ENST00000257818,p.G134D|NM_001142315,p.G65D|uc010rel.2,p.G65D|uc010rem.2,p.G134D|uc001mvd.3,p.G58D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rem.2	nonsynonymous SNV	exon5	c.G401A	p.G134D	DCLSCDLCGCRLGEVGRRLYYKLGR	DCLSCDLCGCRLDEVGRRLYYKLGR	3.0	7.0	-	-	4155_11:33886211-33886211 C>T_DCLSCDLCGCRLDEVGRRLYYKLGR
18:7080385-7080385 C>T	0.0	4155	MELANOMA	-	-	-	-	LAMA1	ENST00000389658,p.G45R|NM_005559,p.G45R|uc002knm.3,p.G45R	retained_intron, protein_coding	uc002knm.3	nonsynonymous SNV	exon2	c.G133A	p.G45R	AHISTNATCGEKGPEMFCKLVEHVP	AHISTNATCGEKRPEMFCKLVEHVP	5.0	6.0	unscreened	-	4155_18:7080385-7080385 C>T_AHISTNATCGEKRPEMFCKLVEHVP
6:46826572-46826572 G>A	0.0	4155	MELANOMA	-	-	-	-	GPR116	uc003oyp.3,p.S881F|uc003oyo.3,p.S1023F|ENST00000456426,p.S881F|NM_015234,p.S1023F|ENST00000362015,p.S1023F|uc011dwk.1,p.S452F|ENST00000265417,p.S1023F|uc003oyq.3,p.S1023F|ENST00000545669,p.S452F|uc011dwj.1,p.S578F|NM_001098518,p.S1023F|uc010jzi.1,p.S695F|ENST00000283296,p.S1023F	protein_coding, processed_transcript	uc011dwk.1	nonsynonymous SNV	exon7	c.C1355T	p.S452F	LLDIISYVGVGFSILSLAACLVVEA	LLDIISYVGVGFFILSLAACLVVEA	5.0	5.0	-	-	4155_6:46826572-46826572 G>A_LLDIISYVGVGFFILSLAACLVVEA
16:71065627-71065627 G>A	0.0	4155	MELANOMA	-	-	-	-	HYDIN	uc031qwy.1,p.S908L|ENST00000538248,p.S935L|ENST00000321489,p.S908L|uc010vmc.2,p.S925L|uc010vmd.2,p.S935L|ENST00000393552,p.S526L|NM_001198542,p.S935L|ENST00000541601,p.S925L|NM_001270974,p.S908L|uc021tkq.2,p.S908L|uc010cfz.2,p.S653L|ENST00000393567,p.S908L|NM_001198543,p.S925L|ENST00000448691,p.S908L|NM_017558,p.S908L|ENST00000448089,p.S908L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon19	c.C2723T	p.S908L	PVQASGTGSTIVSDKPFAPELNLGA	PVQASGTGSTIVLDKPFAPELNLGA	3.0	1.0	-	-	4155_16:71065627-71065627 G>A_PVQASGTGSTIVLDKPFAPELNLGA
3:26751350-26751350 C>T	0.0	4155	MELANOMA	-	-	-	-	LRRC3B	ENST00000456208,p.P63S|uc031rys.1,p.P63S|ENST00000417744,p.P63S|ENST00000396641,p.P63S|NM_052953,p.P63S|uc003cdq.3,p.P63S|ENST00000432040,p.P63S|uc003cdp.3,p.P63S|uc021wuj.1,p.P63S	protein_coding, processed_transcript	uc031rys.1	nonsynonymous SNV	exon3	c.C187T	p.P63S	SNANLKEIPRDLPPETVLLYLDSNQ	SNANLKEIPRDLSPETVLLYLDSNQ	1.0	2.0	unscreened	-	4155_3:26751350-26751350 C>T_SNANLKEIPRDLSPETVLLYLDSNQ
17:12666750-12666750 C>T	0.0	4155	MELANOMA	-	-	ID=COSM1709968,COSM1709969;OCCURENCE=1(skin)	-	MYOCD	uc002gnn.2,p.S869L|ENST00000443061,p.S579L|NM_153604,p.S869L|ENST00000425538,p.S917L|ENST00000343344,p.S869L|uc002gnq.2,p.S593L|uc002gno.2,p.S917L|NM_001146312,p.S917L	protein_coding, nonsense_mediated_decay	uc002gnq.2	nonsynonymous SNV	exon6	c.C1778T	p.S593L	LPGPLSPMQTQFSPSSVDSNGLQLS	LPGPLSPMQTQFLPSSVDSNGLQLS	1.0	7.0	unscreened	-	4155_17:12666750-12666750 C>T_LPGPLSPMQTQFLPSSVDSNGLQLS
1:8385922-8385922 G>A	0.0	4155	MELANOMA	-	-	-	-	SLC45A1	ENST00000289877,p.G179S|ENST00000471889,p.G179S|ENST00000377479,p.G213S|uc001apb.3,p.G179S|NM_001080397,p.G213S	retained_intron, protein_coding, processed_transcript	uc001apb.3	nonsynonymous SNV	exon3	c.G535A	p.G179S	LGLSLLLNGRDIGIALADVTGNHKW	LGLSLLLNGRDISIALADVTGNHKW	3.0	6.0	unscreened	-	4155_1:8385922-8385922 G>A_LGLSLLLNGRDISIALADVTGNHKW
X:83361488-83361488 C>T	0.0	4155	MELANOMA	-	-	-	-	RPS6KA6	uc004eej.2,p.G417E|NM_014496,p.G417E|uc011mqu.2,p.G314E|uc011mqt.2,p.G417E|ENST00000543399,p.G417E|ENST00000262752,p.G417E	protein_coding, processed_transcript	uc011mqu.2	nonsynonymous SNV	exon16	c.G941A	p.G314E	TSANVLPIVQINGNAAQFGEVYELK	TSANVLPIVQINENAAQFGEVYELK	1.0	10.0	unscreened	-	4155_X:83361488-83361488 C>T_TSANVLPIVQINENAAQFGEVYELK
22:26164563-26164563 G>A	0.0	4155	MELANOMA	-	-	ID=COSM221877;OCCURENCE=1(skin)	-	MYO18B	ENST00000539302,p.G227E|uc003abz.1,p.G227E|NM_032608,p.G227E|ENST00000335473,p.G227E|uc010guy.1,p.G108E|uc003aca.1,p.G108E|ENST00000407587,p.G227E|ENST00000536101,p.G227E|uc010guz.1,p.G108E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010guz.1	nonsynonymous SNV	exon2	c.G323A	p.G108E	KTRTGGLGDPGQGTVALKKGEEGQS	KTRTGGLGDPGQETVALKKGEEGQS	1.0	2.0	unscreened	-	4155_22:26164563-26164563 G>A_KTRTGGLGDPGQETVALKKGEEGQS
16:3100517-3100517 G>A	0.0	4155	MELANOMA	-	-	ID=COSM471657,COSM471656;OCCURENCE=1(kidney)	-	MMP25	ENST00000336577,p.D211N|NM_022468,p.D211N|uc002cth.3,p.D211N	retained_intron, protein_coding, processed_transcript	uc002cth.3	nonsynonymous SNV	exon4	c.G631A	p.D211N	GEHPISGDTHFDDEETWTFGSKDGE	GEHPISGDTHFDNEETWTFGSKDGE	3.0	4.0	unscreened	-	4155_16:3100517-3100517 G>A_GEHPISGDTHFDNEETWTFGSKDGE
13:47260165-47260165 C>T	0.0	4155	MELANOMA	-	-	-	-	LRCH1	NM_015116,p.P271S|NM_001164211,p.P271S|ENST00000478412,p.P17S|ENST00000389798,p.P271S|ENST00000389797,p.P271S|ENST00000311191,p.P271S|NM_001164213,p.P271S|uc001vbl.4,p.P271S|uc001vbk.3,p.P271S|uc010acp.2,p.P271S|ENST00000463929,p.P17S|uc001vbj.3,p.P271S	retained_intron, protein_coding	uc010acp.2	nonsynonymous SNV	exon5	c.C811T	p.P271S	QVLLLENNPLQSPPAQICTKGKVHI	QVLLLENNPLQSSPAQICTKGKVHI	6.0	1.0	unscreened	-	4155_13:47260165-47260165 C>T_QVLLLENNPLQSSPAQICTKGKVHI
10:56089418-56089418 C>T	0.0	4155	MELANOMA	-	-	-	-	PCDH15	uc001jjv.1,p.V193M|NM_001142768,p.V193M|ENST00000437009,p.V215M|ENST00000448885,p.V215M|NM_001142764,p.V215M|ENST00000395445,p.V215M|ENST00000373957,p.V193M|NM_001142773,p.V193M|uc010qhv.1,p.V215M|ENST00000395438,p.V215M|ENST00000395442,p.V215M|uc010qib.1,p.V193M|ENST00000373955,p.V215M|ENST00000414367,p.V215M|ENST00000395430,p.V215M|ENST00000320301,p.V215M|NM_001142765,p.V215M|NM_001142763,p.V220M|ENST00000414778,p.V220M|uc010qhy.1,p.V220M|uc001jju.1,p.V215M|ENST00000395433,p.V193M|uc021pqx.1,p.V215M|uc001jjw.3,p.V215M|ENST00000395440,p.V215M|ENST00000373965,p.V215M|NM_033056,p.V215M|uc021pqy.1,p.V215M|uc010qhr.2,p.V215M|uc021pqz.1,p.V193M|NM_001142766,p.V215M|ENST00000395446,p.V215M|uc010qhx.1,p.V215M|uc010qia.1,p.V193M|uc021pqv.1,p.V215M|uc021pqw.1,p.V220M|ENST00000361849,p.V215M|uc010qht.2,p.V215M|uc010qhq.2,p.V220M|uc010qhz.1,p.V215M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqz.1	nonsynonymous SNV	exon5	c.G577A	p.V193M	TFEIPLMLTGNIVLRKRLNYEDKTR	TFEIPLMLTGNIMLRKRLNYEDKTR	1.0	3.0	unscreened	-	4155_10:56089418-56089418 C>T_TFEIPLMLTGNIMLRKRLNYEDKTR
15:51993312-51993312 G>A	1.0	4155	MELANOMA	-	-	-	-	SCG3	uc010ufz.2,p.E128K|ENST00000220478,p.E360K|ENST00000542355,p.E128K|uc002abh.3,p.E360K|NM_013243,p.E360K|NM_001165257,p.E128K	protein_coding	uc010ufz.2	nonsynonymous SNV	exon9	c.G382A	p.E128K	TDNISKLFPAPSEKSHEETDSTKEE	TDNISKLFPAPSKKSHEETDSTKEE	7.0	10.0	-	-	4155_15:51993312-51993312 G>A_TDNISKLFPAPSKKSHEETDSTKEE
X:79698493-79698493 A>C	0.0	4155	MELANOMA	-	-	-	-	FAM46D	uc004edm.2,p.N152T|NM_001170574,p.N152T|NM_152630,p.N152T|uc004edl.1,p.N152T|uc022bzm.1,p.N152T|ENST00000308293,p.N152T|ENST00000538312,p.N152T	protein_coding	uc022bzm.1	nonsynonymous SNV	exon1	c.A455C	p.N152T	GHDCWSLISLSNNTGKNLELKFVSS	GHDCWSLISLSNTTGKNLELKFVSS	1.0	10.0	unscreened	-	4155_X:79698493-79698493 A>C_GHDCWSLISLSNTTGKNLELKFVSS
20:50235540-50235540 G>T	0.0	4155	MELANOMA	-	-	-	-	ATP9A	ENST00000338821,p.R720S|uc002xwg.1,p.R720S|NM_006045,p.R720S|ENST00000402822,p.R599S|uc010gih.1,p.R584S|ENST00000311637,p.R584S	protein_coding, processed_transcript	uc010gih.1	nonsynonymous SNV	exon15	c.C1750A	p.R584S	NRGEAHLELNAFRRKHDCALVISGD	NRGEAHLELNAFSRKHDCALVISGD	5.0	7.0	-	-	4155_20:50235540-50235540 G>T_NRGEAHLELNAFSRKHDCALVISGD
19:55525766-55525766 C>T	0.0	4155	MELANOMA	-	-	-	-	GP6	ENST00000310373,p.G516D|uc002qil.3,p.G516D|NM_001083899,p.G516D	retained_intron, protein_coding	uc002qil.3	nonsynonymous SNV	exon8	c.G1547A	p.G516D	LSSLRTGLAGSLGMSFIFLSVKLAR	LSSLRTGLAGSLDMSFIFLSVKLAR	1.0	4.0	unscreened	-	4155_19:55525766-55525766 C>T_LSSLRTGLAGSLDMSFIFLSVKLAR
1:20232946-20232946 C>T	0.0	4155	MELANOMA	-	-	-	-	OTUD3	ENST00000375120,p.P286L|NM_015207,p.P286L|uc001bcs.4,p.P286L	protein_coding, processed_transcript	uc001bcs.4	nonsynonymous SNV	exon7	c.C857T	p.P286L	QGKRNNAEENLEPSGRVLKQCGPLW	QGKRNNAEENLELSGRVLKQCGPLW	4.0	8.0	unscreened	-	4155_1:20232946-20232946 C>T_QGKRNNAEENLELSGRVLKQCGPLW
2:27306208-27306208 A>G	0.0	4155	MELANOMA	-	-	-	-	EMILIN1	ENST00000380320,p.E590G|uc002rii.4,p.E590G|NM_007046,p.E590G	protein_coding	uc002rii.4	nonsynonymous SNV	exon4	c.A1769G	p.E590G	GDEGCGACGGVQEELGRLRDGVERC	GDEGCGACGGVQGELGRLRDGVERC	8.0	6.0	unscreened	-	4155_2:27306208-27306208 A>G_GDEGCGACGGVQGELGRLRDGVERC
8:30999034-30999034 C>T	0.0	4155	MELANOMA	-	-	-	1	WRN	ENST00000298139,p.S1019F|uc010lvk.3,p.S486F|uc003xio.4,p.S1019F|NM_000553,p.S1019F	retained_intron, protein_coding	uc010lvk.3	nonsynonymous SNV	exon13	c.C1457T	p.S486F	GKDQTESWWKAFSRQLITEGFLVEV	GKDQTESWWKAFFRQLITEGFLVEV	4.0	1.0	-	-	4155_8:30999034-30999034 C>T_GKDQTESWWKAFFRQLITEGFLVEV
3:51743210-51743210 C>T	0.0	4155	MELANOMA	-	-	-	-	GRM2	ENST00000296479,p.R71C|NM_000839,p.R71C|uc010hlv.3,p.R71C|ENST00000442933,p.R71C|ENST00000395052,p.R71C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hlv.3	nonsynonymous SNV	exon2	c.C211T	p.R71C	IQRLEAMLFALDRINRDPHLLPGVR	IQRLEAMLFALDCINRDPHLLPGVR	2.0	2.0	unscreened	-	4155_3:51743210-51743210 C>T_IQRLEAMLFALDCINRDPHLLPGVR
1:223402626-223402626 C>T	0.0	4155	MELANOMA	-	-	-	-	SUSD4	ENST00000454695,p.G117S|NM_017982,p.G277S|ENST00000366878,p.G277S|uc001hnx.3,p.G277S|uc001hny.4,p.G277S|ENST00000343846,p.G277S|uc010puw.2,p.G117S	protein_coding, processed_transcript	uc010puw.2	nonsynonymous SNV	exon7	c.G349A	p.G117S	NHGTVVEFYCDPGYSLTSDYKYITC	NHGTVVEFYCDPSYSLTSDYKYITC	1.0	2.0	unscreened	-	4155_1:223402626-223402626 C>T_NHGTVVEFYCDPSYSLTSDYKYITC
X:135104803-135104803 T>G	0.0	4155	MELANOMA	-	-	-	-	SLC9A6	ENST00000370698,p.L438W|NM_001042537,p.L470W|NM_006359,p.L438W|uc004ezk.3,p.L470W|uc011mvx.2,p.L418W|ENST00000370701,p.L418W|uc004ezj.3,p.L438W|NM_001177651,p.L418W|ENST00000370695,p.L470W	protein_coding	uc011mvx.2	nonsynonymous SNV	exon12	c.T1253G	p.L418W	AANIYPLSLLLNLGRRSKIGSNFQH	AANIYPLSLLLNWGRRSKIGSNFQH	3.0	10.0	unscreened	-	4155_X:135104803-135104803 T>G_AANIYPLSLLLNWGRRSKIGSNFQH
16:7383034-7383034 C>A	0.0	4155	MELANOMA	0.0046	-	ID=COSM973589,COSM973588;OCCURENCE=1(endometrium)	-	RBFOX1	uc010uyc.1,p.P11H|NM_145893,p.P11H|ENST00000355637,p.P11H|ENST00000436368,p.P11H|NM_145891,p.P11H|ENST00000311745,p.P11H|uc002cyx.2,p.P11H|uc002cyw.2,p.P11H|NM_145892,p.P11H|uc002cyy.2,p.P11H	retained_intron, protein_coding, processed_transcript	uc010uyc.1	nonsynonymous SNV	exon1	c.C32A	p.P11H	MLASQGVLLHPYGVPMIVPAAPY	MLASQGVLLHHYGVPMIVPAAPY	1.0	4.0	unscreened	-	4155_16:7383034-7383034 C>A_MLASQGVLLHHYGVPMIVPAAPY
19:51892495-51892495 G>A	0.0	4155	MELANOMA	-	-	-	-	C19orf84	uc002pwn.3,p.P102S|ENST00000574814,p.P102S|NM_001193623,p.P102S	protein_coding	uc002pwn.3	nonsynonymous SNV	exon2	c.C304T	p.P102S	QAGHSQPGAVRRPPRGRGGWEVRHR	QAGHSQPGAVRRSPRGRGGWEVRHR	1.0	1.0	unscreened	-	4155_19:51892495-51892495 G>A_QAGHSQPGAVRRSPRGRGGWEVRHR
1:160523257-160523257 G>A	0.0	4155	MELANOMA	-	-	-	-	CD84	uc001fwg.4,p.T224I|ENST00000534968,p.T110I|NM_003874,p.T224I|ENST00000368054,p.T224I|uc009wtn.3,p.T224I|NM_001184882,p.T110I|NM_001184881,p.T224I|ENST00000368051,p.T224I|uc001fwf.4,p.T224I|ENST00000368048,p.T224I|uc001fwj.3,p.T224I|uc001fwh.4,p.T224I|NM_001184879,p.T224I|ENST00000311224,p.T224I|uc001fwi.4,p.T110I	protein_coding, processed_transcript	uc009wtn.3	nonsynonymous SNV	exon4	c.C671T	p.T224I	CADIAMGFRTHHTGLLSVLAMFFLL	CADIAMGFRTHHIGLLSVLAMFFLL	5.0	6.0	-	-	4155_1:160523257-160523257 G>A_CADIAMGFRTHHIGLLSVLAMFFLL
3:39227168-39227168 G>A	0.0	4155	MELANOMA	-	-	-	-	XIRP1	ENST00000340369,p.P1257S|NM_194293,p.P1257S|uc021wvz.1,p.P1257S|uc003cjk.2,p.P1257S	protein_coding	uc021wvz.1	nonsynonymous SNV	exon1	c.C3769T	p.P1257S	ASPHPHNAFVPPPPTLPAAVTGPDF	ASPHPHNAFVPPSPTLPAAVTGPDF	1.0	4.0	unscreened	-	4155_3:39227168-39227168 G>A_ASPHPHNAFVPPSPTLPAAVTGPDF
16:3100517-3100517 G>A	0.0	4155	MELANOMA	-	-	ID=COSM471657,COSM471656;OCCURENCE=1(kidney)	-	MMP25	uc002cti.1,p.D147N	retained_intron, protein_coding, processed_transcript	uc002cti.1	nonsynonymous SNV	exon3	c.G439A	p.D147N	GEHPISGDTHFDDEETWTFGSKGLS	GEHPISGDTHFDNEETWTFGSKGLS	3.0	4.0	unscreened	-	4155_16:3100517-3100517 G>A_GEHPISGDTHFDNEETWTFGSKGLS
2:234113290-234113290 C>T	0.0	4155	MELANOMA	-	-	-	-	INPP5D	uc010zmo.2,p.T1136I|uc010zmp.2,p.T1135I	retained_intron, protein_coding, processed_transcript	uc010zmp.2	nonsynonymous SNV	exon25	c.C3404T	p.T1135I	PSRSEINQQTPPTPTPRPPLPVKSP	PSRSEINQQTPPIPTPRPPLPVKSP	6.0	9.0	unscreened	-	4155_2:234113290-234113290 C>T_PSRSEINQQTPPIPTPRPPLPVKSP
20:46300968-46300968 C>T	0.0	4155	MELANOMA	-	-	-	-	SULF2	uc002xto.3,p.G517E|NM_018837,p.G517E|ENST00000361612,p.G517E|NM_198596,p.G517E|ENST00000359930,p.G517E|ENST00000467815,p.G517E|ENST00000484875,p.G517E|uc002xtq.3,p.G517E|NM_001161841,p.G517E|uc002xtr.3,p.G517E	retained_intron, protein_coding, processed_transcript	uc002xtr.3	nonsynonymous SNV	exon11	c.G1550A	p.G517E	TCDSGDYKLSLAGRRKKLFKKKYKA	TCDSGDYKLSLAERRKKLFKKKYKA	8.0	7.0	-	-	4155_20:46300968-46300968 C>T_TCDSGDYKLSLAERRKKLFKKKYKA
1:216595504-216595504 C>T	0.0	4155	MELANOMA	-	-	-	-	USH2A	uc001hkv.3,p.G59R|ENST00000307340,p.G59R|NM_206933,p.G59R|uc001hku.1,p.G59R|ENST00000366943,p.G59R|NM_007123,p.G59R|ENST00000366942,p.G59R	retained_intron, protein_coding	uc001hkv.3	nonsynonymous SNV	exon2	c.G175A	p.G59R	KKVSIVPTQAVCGLPDRSTFCHSSA	KKVSIVPTQAVCRLPDRSTFCHSSA	1.0	7.0	unscreened	-	4155_1:216595504-216595504 C>T_KKVSIVPTQAVCRLPDRSTFCHSSA
X:151128413-151128413 C>T	0.0	4155	MELANOMA	-	-	-	-	GABRE	NM_004961,p.E228K|ENST00000370325,p.E228K|uc004ffi.3,p.E228K|ENST00000370328,p.E228K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004ffi.3	nonsynonymous SNV	exon6	c.G682A	p.E228K	FSYPENEMIYKWENFKLEINEKNSW	FSYPENEMIYKWKNFKLEINEKNSW	2.0	10.0	unscreened	-	4155_X:151128413-151128413 C>T_FSYPENEMIYKWKNFKLEINEKNSW
X:151128413-151128413 C>T	0.0	4155	MELANOMA	-	-	-	-	GABRE	ENST00000393914,p.E35K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000393914	nonsynonymous SNV	exon6	c.G103A	p.E35K	VSYPENEMIYKWENFKLEINEKNSW	VSYPENEMIYKWKNFKLEINEKNSW	2.0	10.0	unscreened	-	4155_X:151128413-151128413 C>T_VSYPENEMIYKWKNFKLEINEKNSW
19:21720133-21720133 T>A	0.0	4155	MELANOMA	-	-	ID=COSM1559521;OCCURENCE=11(central_nervous_system)	2	ZNF429	uc002nqd.1,p.N426K|ENST00000358491,p.N426K|NM_001001415,p.N426K	protein_coding, processed_transcript	uc002nqd.1	nonsynonymous SNV	exon4	c.T1278A	p.N426K	QDKKIHTGEKPYNCEECGKVFTYSS	QDKKIHTGEKPYKCEECGKVFTYSS	7.0	1.0	unscreened	-	4155_19:21720133-21720133 T>A_QDKKIHTGEKPYKCEECGKVFTYSS
1:247712513-247712513 G>A	0.0	4155	MELANOMA	-	-	ID=COSM907040,COSM907041;OCCURENCE=1(endometrium),1(liver)	-	GCSAML	ENST00000366490,p.E128K	protein_coding, processed_transcript	ENST00000366490	nonsynonymous SNV	exon4	c.G382A	p.E128K	RVTVKRWEIISCENSGES	RVTVKRWEIISCKNSGES	2.0	5.0	unscreened	-	4155_1:247712513-247712513 G>A_RVTVKRWEIISCKNSGES
1:115256529-115256529 T>C	0.0	4155	MELANOMA	-	-	ID=COSM584;OCCURENCE=4(soft_tissue),3(ovary),4(endometrium),474(skin),7(breast),1(small_intestine),7(urinary_tract),7(adrenal_gland),1(liver),4(eye),2(pancreas),4(biliary_tract),49(large_intestine),5(central_nervous_system),49(NS),289(thyroid),12(lung),9(meninges),3(testis),69(haematopoietic_and_lymphoid_tissue)	1	NRAS	NM_002524,p.Q61R|uc009wgu.3,p.Q61R|ENST00000369535,p.Q61R	protein_coding	uc009wgu.3	nonsynonymous SNV	exon3	c.A182G	p.Q61R	ETCLLDILDTAGQEEYSAMRDQYMR	ETCLLDILDTAGREEYSAMRDQYMR	5.0	1.0	unscreened	-	4155_1:115256529-115256529 T>C_ETCLLDILDTAGREEYSAMRDQYMR
1:222713451-222713451 C>T	0.0	4155	MELANOMA	-	-	-	-	HHIPL2	uc001hnh.1,p.E451K|NM_024746,p.E451K|ENST00000343410,p.E451K	protein_coding, processed_transcript	uc001hnh.1	nonsynonymous SNV	exon4	c.G1351A	p.E451K	RIFCGDVGQNRFEEVDLILKGGNYG	RIFCGDVGQNRFKEVDLILKGGNYG	3.0	8.0	unscreened	-	4155_1:222713451-222713451 C>T_RIFCGDVGQNRFKEVDLILKGGNYG
7:113519370-113519370 C>T	0.0	4155	MELANOMA	-	-	-	-	PPP1R3A	ENST00000284601,p.E593K|uc010ljy.1,p.E593K|NM_002711,p.E593K	protein_coding, nonsense_mediated_decay	uc010ljy.1	nonsynonymous SNV	exon4	c.G1777A	p.E593K	VSHSPRTNLSWEEAVLTPEHHHLTS	VSHSPRTNLSWEKAVLTPEHHHLTS	1.0	10.0	unscreened	-	4155_7:113519370-113519370 C>T_VSHSPRTNLSWEKAVLTPEHHHLTS
2:84745126-84745126 C>T	0.0	4155	MELANOMA	-	-	-	-	DNAH6	ENST00000237449,p.A59V|NM_001370,p.A59V|ENST00000398278,p.A59V|ENST00000389394,p.A59V|uc010fgb.3,p.A59V	retained_intron, protein_coding, processed_transcript	uc010fgb.3	nonsynonymous SNV	exon2	c.C176T	p.A59V	DTQILTFRHITKAQEKTRKRQQPIK	DTQILTFRHITKVQEKTRKRQQPIK	3.0	7.0	unscreened	-	4155_2:84745126-84745126 C>T_DTQILTFRHITKVQEKTRKRQQPIK
14:36946189-36946189 G>A	0.0	4155	MELANOMA	-	-	-	-	SFTA3	uc001wtr.3,p.S83L|NM_001101341,p.S83L|ENST00000518529,p.S83L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wtr.3	nonsynonymous SNV	exon3	c.C248T	p.S83L	LLHPTTLSQSRSSSEAKMLIIHTA	LLHPTTLSQSRSLSEAKMLIIHTA	1.0	3.0	unscreened	-	4155_14:36946189-36946189 G>A_LLHPTTLSQSRSLSEAKMLIIHTA
7:4801986-4801986 G>A	0.0	4155	MELANOMA	-	-	-	-	FOXK1	uc003snc.1,p.G698E|uc003sna.1,p.G535E|ENST00000328914,p.G698E|NM_001037165,p.G698E|ENST00000446823,p.G535E	retained_intron, protein_coding	uc003snc.1	nonsynonymous SNV	exon9	c.G2093A	p.G698E	TATTASASASSTGEPEVKRSRVEEP	TATTASASASSTEEPEVKRSRVEEP	7.0	10.0	unscreened	-	4155_7:4801986-4801986 G>A_TATTASASASSTEEPEVKRSRVEEP
6:21108668-21108668 C>T	0.0	4155	MELANOMA	-	-	-	-	CDKAL1	uc003ndd.2,p.H425Y|uc021ymk.1,p.H425Y|NM_017774,p.H425Y|ENST00000378610,p.H425Y|ENST00000274695,p.H425Y	protein_coding, processed_transcript	uc021ymk.1	nonsynonymous SNV	exon11	c.C1273T	p.H425Y	KKQRTKDLSRVFHSYSPYDHKIGER	KKQRTKDLSRVFYSYSPYDHKIGER	6.0	6.0	unscreened	-	4155_6:21108668-21108668 C>T_KKQRTKDLSRVFYSYSPYDHKIGER
X:25022933-25022933 C>G	0.0	4155	MELANOMA	-	-	-	-	ARX	uc004dbp.4,p.G515R|NM_139058,p.G515R|ENST00000379044,p.G515R	protein_coding	uc004dbp.4	nonsynonymous SNV	exon5	c.G1543C	p.G515R	QPTPAVEGAVASGALADPATAAADR	QPTPAVEGAVASRALADPATAAADR	1.0	10.0	unscreened	-	4155_X:25022933-25022933 C>G_QPTPAVEGAVASRALADPATAAADR
19:23329093-23329093 G>T	0.0	4155	MELANOMA	-	-	-	-	ZNF730	uc031rkc.1,p.R416I|ENST00000597761,p.R416I|NM_001277403,p.R416I	protein_coding	uc031rkc.1	nonsynonymous SNV	exon4	c.G1247T	p.R416I	AFSRISHLTTHKRIHTGEKPYKCEE	AFSRISHLTTHKIIHTGEKPYKCEE	1.0	1.0	unscreened	-	4155_19:23329093-23329093 G>T_AFSRISHLTTHKIIHTGEKPYKCEE
12:3921347-3921347 A>C	0.0	4155	MELANOMA	-	-	-	-	PARP11	uc001qmk.1,p.I313S|uc001qmn.2,p.I239S|uc001qmm.2,p.I239S|NM_001286521,p.I239S|ENST00000228820,p.I320S|ENST00000447133,p.I239S|NM_001286522,p.I239S|ENST00000427057,p.I239S|uc001qml.2,p.I320S|NM_020367,p.I320S	protein_coding, processed_transcript, nonsense_mediated_decay	uc001qmn.2	nonsynonymous SNV	exon7	c.T716G	p.I239S	YDSCVDDTWNPKIFVVFDANQIYPE	YDSCVDDTWNPKSFVVFDANQIYPE	4.0	9.0	unscreened	-	4155_12:3921347-3921347 A>C_YDSCVDDTWNPKSFVVFDANQIYPE
20:62325827-62325827 G>A	1.0	4155	MELANOMA	-	-	-	-	RTEL1	ENST00000482936,p.R1032K|uc011abe.1,p.R809K|NM_032957,p.R1056K|ENST00000370003,p.R277K|NM_001283009,p.R1032K|ENST00000360203,p.R1032K|uc002yfu.2,p.R1032K|NM_001283010,p.R809K|uc011abd.2,p.R1056K|ENST00000318100,p.R1032K|ENST00000508582,p.R1056K|ENST00000370018,p.R1032K|uc002yfx.1,p.R277K|NM_016434,p.R1032K	 processed_transcript,protein_coding, nonsense_mediated_decay	uc011abe.1	nonsynonymous SNV	exon30	c.G2426A	p.R809K	EHLNQGRPHLSPRPPPTGDPGSQPQ	EHLNQGRPHLSPKPPPTGDPGSQPQ	7.0	3.0	-	-	4155_20:62325827-62325827 G>A_EHLNQGRPHLSPKPPPTGDPGSQPQ
8:69728147-69728147 C>T	0.0	4155	MELANOMA	-	-	-	-	C8orf34	uc003xyb.3,p.P415S|ENST00000337103,p.P415S|uc010lyz.3,p.P526S|ENST00000518698,p.P526S|ENST00000539993,p.P440S|NM_052958,p.P526S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lyz.3	nonsynonymous SNV	exon13	c.C1576T	p.P526S	QEKRSADLLLCVPCSSCPTLVYSGL	QEKRSADLLLCVSCSSCPTLVYSGL	1.0	2.0	unscreened	-	4155_8:69728147-69728147 C>T_QEKRSADLLLCVSCSSCPTLVYSGL
17:56355368-56355368 C>T	0.0	4155	MELANOMA	-	-	-	-	MPO	ENST00000340482,p.V374M|uc002ivu.1,p.V342M|NM_000250,p.V342M|ENST00000225275,p.V342M	retained_intron, protein_coding, processed_transcript	uc002ivu.1	nonsynonymous SNV	exon7	c.G1024A	p.V342M	INALTSFVDASMVYGSEEPLARNLR	INALTSFVDASMMYGSEEPLARNLR	1.0	6.0	unscreened	-	4155_17:56355368-56355368 C>T_INALTSFVDASMMYGSEEPLARNLR
19:46253936-46253936 G>A	0.0	4155	MELANOMA	-	-	-	-	BHMG1	ENST00000457052,p.E104K|uc021uwa.1,p.E57K	protein_coding	uc021uwa.1	nonsynonymous SNV	exon3	c.G169A	p.E57K	ALKTGTKKLTKKEILVHVLQYIQYL	ALKTGTKKLTKKKILVHVLQYIQYL	1.0	8.0	unscreened	-	4155_19:46253936-46253936 G>A_ALKTGTKKLTKKKILVHVLQYIQYL
2:189868771-189868771 G>A	0.0	4155	MELANOMA	-	-	-	2	COL3A1	uc002uqj.1,p.G909S|ENST00000304636,p.G909S|NM_000090,p.G909S	retained_intron, protein_coding	uc002uqj.1	nonsynonymous SNV	exon39	c.G2725A	p.G909S	GSPGKDGPPGPAGNTGAPGSPGVSG	GSPGKDGPPGPASNTGAPGSPGVSG	10.0	10.0	unscreened	-	4155_2:189868771-189868771 G>A_GSPGKDGPPGPASNTGAPGSPGVSG
11:27679452-27679452 C>T	0.0	4155	MELANOMA	-	-	-	-	BDNF	ENST00000418212,p.M220I|uc021qff.1,p.M220I|uc001mry.4,p.M220I|uc001mrz.4,p.M220I|NM_001143807,p.M220I|uc001mru.3,p.M220I|ENST00000395980,p.M220I|ENST00000314915,p.M228I|uc009yje.3,p.M302I|NM_170733,p.M220I|NM_001143810,p.M302I|uc010rdx.2,p.M220I|NM_001143814,p.M220I|NM_001143811,p.M220I|NM_170732,p.M220I|NM_001143816,p.M220I|NM_001143809,p.M249I|ENST00000420794,p.M220I|NM_001709,p.M220I|NM_001143808,p.M220I|NM_001143806,p.M220I|ENST00000533246,p.M220I|ENST00000525528,p.M220I|NM_001143805,p.M220I|uc010rdw.2,p.M220I|uc001msa.3,p.M228I|NM_170735,p.M220I|ENST00000533131,p.M220I|NM_001143813,p.M220I|NM_001143812,p.M220I|uc001mrx.3,p.M220I|ENST00000532997,p.M220I|ENST00000438929,p.M302I|ENST00000439476,p.M220I|uc009yjd.3,p.M220I|ENST00000525950,p.M220I|uc010rdy.2,p.M220I|uc001mrw.4,p.M220I|uc010rdu.2,p.M220I|NM_170731,p.M228I|uc009yjg.3,p.M220I|uc001mrt.3,p.M235I|ENST00000395983,p.M220I|ENST00000395978,p.M220I|uc001mrv.3,p.M220I|ENST00000395981,p.M220I|uc009yjf.3,p.M249I|ENST00000530861,p.M220I|ENST00000395986,p.M235I|ENST00000356660,p.M220I|NM_170734,p.M235I	protein_coding, processed_transcript, nonsense_mediated_decay	uc021qff.1	nonsynonymous SNV	exon1	c.G660A	p.M220I	CRTTQSYVRALTMDSKKRIGWRFIR	CRTTQSYVRALTIDSKKRIGWRFIR	1.0	9.0	unscreened	-	4155_11:27679452-27679452 C>T_CRTTQSYVRALTIDSKKRIGWRFIR
6:21108668-21108668 C>T	0.0	4155	MELANOMA	-	-	-	-	CDKAL1	uc003ndf.2,p.H21Y	protein_coding, processed_transcript	uc003ndf.2	nonsynonymous SNV	exon2	c.C61T	p.H21Y	KKQRTKDLSRVFHSYSPYDHKDFRN	KKQRTKDLSRVFYSYSPYDHKDFRN	6.0	6.0	unscreened	-	4155_6:21108668-21108668 C>T_KKQRTKDLSRVFYSYSPYDHKDFRN
4:47765508-47765508 C>T	0.0	4155	MELANOMA	-	-	-	-	CORIN	NM_001278586,p.E169K|NM_006587,p.E169K|ENST00000508498,p.E30K|uc011bzg.2,p.E102K|uc011bzh.1,p.E169K|ENST00000273857,p.E169K|ENST00000505909,p.E169K|ENST00000504584,p.E169K|uc011bzi.1,p.E169K|NM_001278585,p.E102K|uc011bzf.2,p.E30K|uc003gxm.3,p.E169K|ENST00000502252,p.E102K|uc003gxn.4,p.E169K	retained_intron, protein_coding, processed_transcript	uc011bzi.1	nonsynonymous SNV	exon4	c.G505A	p.E169K	TPLLSVVRNMEMEKFLKFFTYLHRL	TPLLSVVRNMEMKKFLKFFTYLHRL	1.0	7.0	unscreened	-	4155_4:47765508-47765508 C>T_TPLLSVVRNMEMKKFLKFFTYLHRL
X:151303786-151303786 C>T	0.0	4155	MELANOMA	-	-	-	-	MAGEA10	NM_001251828,p.D103N|ENST00000444834,p.D103N|NM_021048,p.D103N|uc004ffk.3,p.D103N|uc004ffm.2,p.D103N|uc004ffl.3,p.D103N|ENST00000370323,p.D103N|uc022cgz.1,p.D103N|ENST00000244096,p.D103N|ENST00000427322,p.D103N|NM_001011543,p.D103N	protein_coding	uc022cgz.1	nonsynonymous SNV	exon1	c.G307A	p.D103N	CSSPSVVASLPLDQSDEGSSSQKEE	CSSPSVVASLPLNQSDEGSSSQKEE	2.0	10.0	unscreened	-	4155_X:151303786-151303786 C>T_CSSPSVVASLPLNQSDEGSSSQKEE
5:11346611-11346611 C>T	0.0	4155	MELANOMA	-	-	-	2	CTNND2	ENST00000304623,p.D501N|NM_001332,p.D501N|NM_001288715,p.D410N|ENST00000458100,p.D68N|uc003jfa.1,p.D501N|NM_001288717,p.D68N|uc011cmz.1,p.D68N|uc011cmx.1,p.D68N|ENST00000511377,p.D410N|ENST00000503622,p.D164N|uc011cmy.1,p.D164N|ENST00000359640,p.D501N|uc010itt.2,p.D410N|ENST00000513588,p.D255N|NM_001288716,p.D164N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cmz.1	nonsynonymous SNV	exon8	c.G202A	p.D68N	ASYAAGPASNYADPYRQLQYCPSVE	ASYAAGPASNYANPYRQLQYCPSVE	1.0	10.0	unscreened	-	4155_5:11346611-11346611 C>T_ASYAAGPASNYANPYRQLQYCPSVE
17:8926649-8926649 C>T	0.0	4155	MELANOMA	-	-	-	-	NTN1	ENST00000538852,p.P320L|NM_004822,p.P320L|ENST00000173229,p.P320L|ENST00000546090,p.P320L|uc002glw.4,p.P320L	protein_coding	uc002glw.4	nonsynonymous SNV	exon2	c.C959T	p.P320L	HNTAGPECDRCKPFHYDRPWQRATA	HNTAGPECDRCKLFHYDRPWQRATA	1.0	3.0	unscreened	-	4155_17:8926649-8926649 C>T_HNTAGPECDRCKLFHYDRPWQRATA
1:176863845-176863845 C>T	0.0	4155	MELANOMA	-	-	-	-	ASTN1	NM_001286164,p.M931I|uc001glc.3,p.M931I|uc001glb.1,p.M931I|uc001gld.1,p.M931I|ENST00000367657,p.M931I|ENST00000424564,p.M931I|NM_207108,p.M931I|ENST00000361833,p.M931I|NM_004319,p.M931I|ENST00000367654,p.M939I	protein_coding, processed_transcript	uc001gld.1	nonsynonymous SNV	exon17	c.G2793A	p.M931I	DSGTKHMAAGVRMECHSKGRCPSSC	DSGTKHMAAGVRIECHSKGRCPSSC	1.0	2.0	unscreened	-	4155_1:176863845-176863845 C>T_DSGTKHMAAGVRIECHSKGRCPSSC
1:27876373-27876373 G>A	1.0	4155	MELANOMA	-	-	-	-	AHDC1	ENST00000247087,p.P752S|uc009vsz.1,p.P752S|NM_001029882,p.P752S|uc009vsy.3,p.P752S|uc021ojw.1,p.P752S|ENST00000374011,p.P752S	protein_coding, processed_transcript	uc021ojw.1	nonsynonymous SNV	exon1	c.C2254T	p.P752S	RKRRSRKNGTLFPEQVPSGPGFGEA	RKRRSRKNGTLFSEQVPSGPGFGEA	7.0	8.0	-	-	4155_1:27876373-27876373 G>A_RKRRSRKNGTLFSEQVPSGPGFGEA
9:79324111-79324111 G>A	0.0	4155	MELANOMA	-	-	-	-	PRUNE2	NM_015225,p.P1027S|uc010mpk.3,p.P1027S|uc022bih.1,p.P849S|ENST00000428286,p.P668S|ENST00000376718,p.P1027S	protein_coding, processed_transcript	uc022bih.1	nonsynonymous SNV	exon7	c.C2545T	p.P849S	LQQSSRNRISSGPGNLDMWASPHTD	LQQSSRNRISSGSGNLDMWASPHTD	3.0	10.0	unscreened	-	4155_9:79324111-79324111 G>A_LQQSSRNRISSGSGNLDMWASPHTD
2:228157952-228157952 G>A	0.0	4155	MELANOMA	-	-	-	-	COL4A3	NM_000091,p.G1086R|uc002vom.2,p.G1086R|ENST00000304990,p.G123R|ENST00000396578,p.G1086R	retained_intron, protein_coding, processed_transcript	uc002vom.2	nonsynonymous SNV	exon38	c.G3256A	p.G1086R	GLPGDMGKKGEMGQPGPPGHLGPAG	GLPGDMGKKGEMRQPGPPGHLGPAG	1.0	1.0	unscreened	-	4155_2:228157952-228157952 G>A_GLPGDMGKKGEMRQPGPPGHLGPAG
1:1118365-1118365 G>A	0.0	4155	MELANOMA	-	-	-	-	TTLL10	ENST00000379288,p.M269I|ENST00000379289,p.M342I|uc010nyg.1,p.M342I|ENST00000379290,p.M342I|NM_001130045,p.M342I|NM_153254,p.M269I|uc001acz.2,p.M269I|uc001acy.2,p.M342I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010nyg.1	nonsynonymous SNV	exon11	c.G1026A	p.M342I	EEVAALQAKTRSMEDDPIHHKTPFR	EEVAALQAKTRSIEDDPIHHKTPFR	1.0	10.0	unscreened	-	4155_1:1118365-1118365 G>A_EEVAALQAKTRSIEDDPIHHKTPFR
19:53015147-53015147 C>T	0.0	4155	MELANOMA	-	-	ID=COSM1612699;OCCURENCE=2(liver)	-	ZNF578	NM_001099694,p.H505Y|ENST00000421239,p.H505Y|uc002pzp.4,p.H505Y	protein_coding, processed_transcript	uc002pzp.4	nonsynonymous SNV	exon6	c.C1513T	p.H505Y	SHRSSLPCHRRLHSGEKPYKCNECG	SHRSSLPCHRRLYSGEKPYKCNECG	2.0	3.0	unscreened	-	4155_19:53015147-53015147 C>T_SHRSSLPCHRRLYSGEKPYKCNECG
9:8376071-8376071 C>T	0.0	4155	MELANOMA	-	-	-	-	PTPRD	NM_130391,p.R1102K|NM_001040712,p.R1099K|uc003zkq.3,p.R1102K|ENST00000356435,p.R1509K|ENST00000381196,p.R1509K|NM_001171025,p.R1102K|ENST00000486161,p.R1102K|uc022bdj.1,p.R1099K|uc003zks.3,p.R1102K|uc003zkr.3,p.R1093K|uc003zkk.3,p.R1509K|ENST00000358503,p.R1487K|ENST00000540109,p.R1509K|NM_002839,p.R1509K|ENST00000397606,p.R1102K|NM_130393,p.R1093K|ENST00000360074,p.R1496K|ENST00000397611,p.R1099K|ENST00000355233,p.R1103K|NM_130392,p.R1103K|uc003zkp.3,p.R1103K|ENST00000397617,p.R1102K|ENST00000537002,p.R1099K	retained_intron, protein_coding, processed_transcript	uc022bdj.1	nonsynonymous SNV	exon23	c.G3296A	p.R1099K	TFALYKNGSSEKREVRQFQFTAWPD	TFALYKNGSSEKKEVRQFQFTAWPD	4.0	10.0	unscreened	-	4155_9:8376071-8376071 C>T_TFALYKNGSSEKKEVRQFQFTAWPD
X:20156734-20156734 C>T	1.0	4155	MELANOMA	-	-	-	2	EIF1AX	uc004czt.3,p.G8E|ENST00000379607,p.G8E|NM_001412,p.G8E	protein_coding	uc004czt.3	nonsynonymous SNV	exon2	c.G23A	p.G8E	MPKNKGKGGKNRRRGKNENE	MPKNKGKEGKNRRRGKNENE	8.0	10.0	-	-	4155_X:20156734-20156734 C>T_MPKNKGKEGKNRRRGKNENE
17:43318860-43318860 G>A	0.0	4155	MELANOMA	-	-	-	-	FMNL1	ENST00000328118,p.E482K|ENST00000331495,p.E482K|uc002iiq.3,p.E60K|ENST00000587489,p.E60K|NM_005892,p.E482K|uc002iin.3,p.E482K	retained_intron, protein_coding, processed_transcript	uc002iiq.3	nonsynonymous SNV	exon2	c.G178A	p.E60K	PTRPSALELKVEELEEKGLIRILRG	PTRPSALELKVEKLEEKGLIRILRG	6.0	8.0	unscreened	-	4155_17:43318860-43318860 G>A_PTRPSALELKVEKLEEKGLIRILRG
7:143048754-143048754 G>A	0.0	4155	MELANOMA	-	-	-	-	CLCN1	uc003wcr.1,p.R888Q|ENST00000343257,p.R888Q|uc011ktc.1,p.R500Q|NM_000083,p.R888Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc011ktc.1	nonsynonymous SNV	exon22	c.G1499A	p.R500Q	SGVQLRPPLASFRNTTSTRKSTGAP	SGVQLRPPLASFQNTTSTRKSTGAP	1.0	10.0	unscreened	-	4155_7:143048754-143048754 G>A_SGVQLRPPLASFQNTTSTRKSTGAP
1:157650796-157650796 C>T	0.0	4155	MELANOMA	-	-	-	-	FCRL3	ENST00000477837,p.M549I|ENST00000485028,p.M644I|ENST00000368186,p.M644I|uc001fqz.4,p.M644I|uc001frb.3,p.M644I|uc001frc.1,p.M644I|ENST00000368184,p.M644I|NM_052939,p.M644I|uc001fra.3,p.M370I|ENST00000492769,p.M650I	protein_coding, processed_transcript, nonsense_mediated_decay	uc001frc.1	nonsynonymous SNV	exon12	c.G1932A	p.M644I	PQEPTHSKPLAPMELEPMYSNVNPG	PQEPTHSKPLAPIELEPMYSNVNPG	1.0	9.0	unscreened	-	4155_1:157650796-157650796 C>T_PQEPTHSKPLAPIELEPMYSNVNPG
2:227964362-227964362 A>G	0.0	4155	MELANOMA	-	-	-	-	COL4A4	uc021vxr.1,p.L358S|NM_000092,p.L358S|uc021vxs.1,p.L358S|ENST00000329662,p.L358S|ENST00000396625,p.L358S	protein_coding	uc021vxs.1	nonsynonymous SNV	exon18	c.T1073C	p.L358S	PGNRGHPGPPGVLVTPPLPLKGPPG	PGNRGHPGPPGVSVTPPLPLKGPPG	1.0	6.0	unscreened	-	4155_2:227964362-227964362 A>G_PGNRGHPGPPGVSVTPPLPLKGPPG
14:36946189-36946189 G>A	0.0	4155	MELANOMA	-	-	-	-	SFTA3	ENST00000518002,p.S83L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000518002	nonsynonymous SNV	exon3	c.C248T	p.S83L	LLHPTTLSQSRSSSEAKMEKLRPRN	LLHPTTLSQSRSLSEAKMEKLRPRN	1.0	3.0	unscreened	-	4155_14:36946189-36946189 G>A_LLHPTTLSQSRSLSEAKMEKLRPRN
3:108773659-108773659 C>T	0.0	4155	MELANOMA	-	-	-	-	MORC1	NM_014429,p.E416K|ENST00000232603,p.E416K|uc011bhn.2,p.E416K|ENST00000483760,p.E416K|uc003dxl.3,p.E416K	protein_coding	uc011bhn.2	nonsynonymous SNV	exon14	c.G1246A	p.E416K	PLEVMEPSHNKQEFLNVQEYNHLLK	PLEVMEPSHNKQKFLNVQEYNHLLK	4.0	1.0	unscreened	-	4155_3:108773659-108773659 C>T_PLEVMEPSHNKQKFLNVQEYNHLLK
17:26084337-26084337 G>A	0.0	4155	MELANOMA	-	-	-	-	NOS2	uc002gzu.3,p.P1133S|ENST00000313735,p.P1133S|NM_000625,p.P1133S	protein_coding	uc002gzu.3	nonsynonymous SNV	exon27	c.C3397T	p.P1133S	KRYHEDIFGAVFPYEAKKDRVAVQP	KRYHEDIFGAVFSYEAKKDRVAVQP	1.0	2.0	unscreened	-	4155_17:26084337-26084337 G>A_KRYHEDIFGAVFSYEAKKDRVAVQP
7:2976811-2976811 C>T	0.0	4155	MELANOMA	-	-	ID=COSM220934;OCCURENCE=3(haematopoietic_and_lymphoid_tissue)	1	CARD11	uc003smv.3,p.D401N|NM_032415,p.D401N|ENST00000396946,p.D401N	retained_intron, protein_coding	uc003smv.3	nonsynonymous SNV	exon9	c.G1201A	p.D401N	AQTQYSQCLIEKDKYRKQIRELEEK	AQTQYSQCLIEKNKYRKQIRELEEK	4.0	10.0	unscreened	-	4155_7:2976811-2976811 C>T_AQTQYSQCLIEKNKYRKQIRELEEK
7:100187292-100187292 G>A	0.0	4155	MELANOMA	-	-	-	-	FBXO24	ENST00000427939,p.G10E|NM_012172,p.G10E|uc011kjz.1,p.G10E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kjz.1	nonsynonymous SNV	exon1	c.G29A	p.G10E	MVWESQQERGGQGPRRQEGRSR	MVWESQQEREGQGPRRQEGRSR	5.0	10.0	unscreened	-	4155_7:100187292-100187292 G>A_MVWESQQEREGQGPRRQEGRSR
18:72250829-72250829 G>A	0.0	4155	MELANOMA	-	-	-	-	CNDP1	uc002llq.3,p.G448R|ENST00000582365,p.G405R|ENST00000358821,p.G448R|NM_032649,p.G448R|uc002lls.3,p.G251R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lls.3	nonsynonymous SNV	exon6	c.G751A	p.G251R	TVFGTEPDMIRDGSTIPIAKMFQEI	TVFGTEPDMIRDRSTIPIAKMFQEI	1.0	5.0	unscreened	-	4155_18:72250829-72250829 G>A_TVFGTEPDMIRDRSTIPIAKMFQEI
7:82585021-82585021 C>T	0.0	4155	MELANOMA	-	-	-	-	PCLO	ENST00000423517,p.G1750R|NM_014510,p.G1750R|uc003uhx.2,p.G1750R|ENST00000333891,p.G1750R|NM_033026,p.G1750R|uc003uhv.2,p.G1750R	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon5	c.G5248A	p.G1750R	DEDSDSSPSHKKGESKQQRKARHRP	DEDSDSSPSHKKRESKQQRKARHRP	1.0	10.0	unscreened	-	4155_7:82585021-82585021 C>T_DEDSDSSPSHKKRESKQQRKARHRP
5:140503930-140503930 G>A	0.0	4155	MELANOMA	-	-	ID=COSM110449;OCCURENCE=1(skin)	-	PCDHB4	uc003lip.1,p.E784K|NM_018938,p.E784K|ENST00000194152,p.E784K	protein_coding	uc003lip.1	nonsynonymous SNV	exon1	c.G2350A	p.E784K	NLLVQDTGREVKENPKFRNSLVFS	NLLVQDTGREVKKNPKFRNSLVFS	1.0	10.0	unscreened	-	4155_5:140503930-140503930 G>A_NLLVQDTGREVKKNPKFRNSLVFS
4:166965583-166965583 C>T	0.0	4155	MELANOMA	-	-	-	-	TLL1	uc011cjn.2,p.P531S|ENST00000507499,p.P531S	protein_coding, nonsense_mediated_decay	uc011cjn.2	nonsynonymous SNV	exon13	c.C1591T	p.P531S	SKARESLILIWKPIERHDNCAYDYL	SKARESLILIWKSIERHDNCAYDYL	1.0	3.0	unscreened	-	4155_4:166965583-166965583 C>T_SKARESLILIWKSIERHDNCAYDYL
17:19611778-19611778 G>A	0.0	4155	MELANOMA	-	-	-	-	SLC47A2	ENST00000574239,p.P207L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000574239	nonsynonymous SNV	exon7	c.C620T	p.P207L	AEGAGGGVPIPNPGFVHPPSISLTP	AEGAGGGVPIPNLGFVHPPSISLTP	1.0	4.0	unscreened	-	4155_17:19611778-19611778 G>A_AEGAGGGVPIPNLGFVHPPSISLTP
3:51697372-51697372 T>C	1.0	4155	MELANOMA	-	-	-	-	RAD54L2	uc003dbh.3,p.V1036A|uc011bdt.2,p.V1447A|ENST00000409535,p.V1447A|uc011bdu.2,p.V1141A|ENST00000296477,p.V1141A|uc003dbj.3,p.V773A|NM_015106,p.V1447A	retained_intron, protein_coding	uc011bdu.2	nonsynonymous SNV	exon18	c.T3422C	p.V1141A	QVPPFDSHEVAEVGFSSNDDEDKDD	QVPPFDSHEVAEAGFSSNDDEDKDD	8.0	9.0	-	-	4155_3:51697372-51697372 T>C_QVPPFDSHEVAEAGFSSNDDEDKDD
18:28971080-28971080 C>T	0.0	4155	MELANOMA	-	-	-	-	DSG4	ENST00000359747,p.R242W|uc002kwq.2,p.R242W|ENST00000308128,p.R242W|NM_001134453,p.R242W|uc002kwr.2,p.R242W|NM_177986,p.R242W	protein_coding	uc002kwr.2	nonsynonymous SNV	exon7	c.C724T	p.R242W	HSMYNLVVRGSDRDGAADGLSSECD	HSMYNLVVRGSDWDGAADGLSSECD	1.0	2.0	unscreened	-	4155_18:28971080-28971080 C>T_HSMYNLVVRGSDWDGAADGLSSECD
14:23992967-23992967 C>T	0.0	4155	MELANOMA	-	-	-	-	ZFHX2	uc010akq.3,p.G1014R|NM_033400,p.G2062R|uc010tno.2,p.G2062R|ENST00000419474,p.G2062R	protein_coding	uc010tno.2	nonsynonymous SNV	exon9	c.G6184A	p.G2062R	SGGPGGGTGVPDGMGQRRYRTQMSS	SGGPGGGTGVPDRMGQRRYRTQMSS	7.0	2.0	unscreened	-	4155_14:23992967-23992967 C>T_SGGPGGGTGVPDRMGQRRYRTQMSS
19:42213776-42213776 G>A	0.0	4155	MELANOMA	-	-	-	-	CEACAM5	ENST00000405816,p.G81E|uc002orj.1,p.G81E|ENST00000398599,p.G81E|uc010ehz.1,p.G81E|uc002orl.3,p.G81E|ENST00000598976,p.G81E|NM_001291484,p.G81E|NM_004363,p.G81E|ENST00000221992,p.G81E	retained_intron,protein_coding, protein_coding	uc010ehz.1	nonsynonymous SNV	exon2	c.G242A	p.G81E	KGERVDGNRQIIGYVIGTQQATPGP	KGERVDGNRQIIEYVIGTQQATPGP	1.0	9.0	unscreened	-	4155_19:42213776-42213776 G>A_KGERVDGNRQIIEYVIGTQQATPGP
2:131369256-131369256 G>A	0.0	4155	MELANOMA	-	-	ID=COSM3836826,COSM3836825;OCCURENCE=1(breast)	-	POTEJ	NM_001277083,p.D51N|uc021vor.2,p.D51N|ENST00000409602,p.D51N	protein_coding	uc021vor.2	nonsynonymous SNV	exon1	c.G151A	p.D51N	GKSNVGTSGDQDDSTMKTLRSKMGK	GKSNVGTSGDQDNSTMKTLRSKMGK	3.0	1.0	unscreened	-	4155_2:131369256-131369256 G>A_GKSNVGTSGDQDNSTMKTLRSKMGK
10:126523346-126523346 C>T	0.0	4155	MELANOMA	-	-	-	-	FAM175B	NM_032182,p.P352S|uc001lib.4,p.P352S|ENST00000298492,p.P352S	protein_coding, processed_transcript	uc001lib.4	nonsynonymous SNV	exon9	c.C1054T	p.P352S	SNYASTSAGLKYPGSGADLPPPQRA	SNYASTSAGLKYSGSGADLPPPQRA	7.0	9.0	unscreened	-	4155_10:126523346-126523346 C>T_SNYASTSAGLKYSGSGADLPPPQRA
2:167328849-167328849 C>T	0.0	4155	MELANOMA	-	-	-	-	SCN7A	NM_002976,p.D184N|ENST00000424326,p.D184N|ENST00000409855,p.D184N|ENST00000441411,p.D184N|uc002udu.2,p.D184N|ENST00000419992,p.D184N	retained_intron, protein_coding, nonsense_mediated_decay	uc002udu.2	nonsynonymous SNV	exon5	c.G550A	p.D184N	SFSFLGDPWNWLDFSVTVFEVIIRY	SFSFLGDPWNWLNFSVTVFEVIIRY	1.0	6.0	unscreened	-	4155_2:167328849-167328849 C>T_SFSFLGDPWNWLNFSVTVFEVIIRY
7:100638975-100638975 G>A	0.0	4155	MELANOMA	-	-	-	-	MUC12	ENST00000536621,p.E1711K|ENST00000379442,p.E1854K|NM_001164462,p.E1711K|uc003uxo.3,p.E1711K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.G5131A	p.E1711K	MPAPPTTTSAFVELSTTSHGSPSST	MPAPPTTTSAFVKLSTTSHGSPSST	4.0	1.0	unscreened	-	4155_7:100638975-100638975 G>A_MPAPPTTTSAFVKLSTTSHGSPSST
1:171890926-171890926 G>A	0.0	4155	MELANOMA	-	-	-	-	DNM3	ENST00000358155,p.R67Q|uc001gif.4,p.R67Q|uc001gie.4,p.R67Q|ENST00000520906,p.R67Q|uc001gid.5,p.R67Q|NM_001136127,p.R67Q|uc009wwb.3,p.R67Q|ENST00000367733,p.R67Q|ENST00000367731,p.R67Q|NM_001278252,p.R67Q|NM_015569,p.R67Q|ENST00000355305,p.R67Q	retained_intron, protein_coding	uc009wwb.3	nonsynonymous SNV	exon2	c.G200A	p.R67Q	DFLPRGSGIVTRRPLVLQLVTSKAE	DFLPRGSGIVTRQPLVLQLVTSKAE	3.0	4.0	-	-	4155_1:171890926-171890926 G>A_DFLPRGSGIVTRQPLVLQLVTSKAE
1:62365296-62365296 C>T	0.0	4155	MELANOMA	-	-	-	-	INADL	uc001daa.2,p.P1058L|NM_176877,p.P1058L|ENST00000484937,p.P517L|ENST00000371158,p.P1058L|uc001dab.3,p.P1058L|uc009waf.1,p.P1058L|uc001dad.3,p.P755L|ENST00000316485,p.P1058L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009waf.1	nonsynonymous SNV	exon23	c.C3173T	p.P1058L	LPEREEGEGEETPNFSHWGPPRIVE	LPEREEGEGEETLNFSHWGPPRIVE	8.0	2.0	unscreened	-	4155_1:62365296-62365296 C>T_LPEREEGEGEETLNFSHWGPPRIVE
7:31862800-31862800 C>T	0.0	4155	MELANOMA	-	-	ID=COSM1698502,COSM1698503,COSM1698501;OCCURENCE=1(skin)	-	PDE1C	ENST00000396191,p.G490E|NM_001191059,p.G490E|uc003tcm.2,p.G490E|ENST00000396182,p.G490E|NM_001191058,p.G550E|ENST00000396184,p.G490E|ENST00000321453,p.G490E|uc003tcs.3,p.G490E|uc003tcr.3,p.G490E|NM_001191057,p.G490E|NM_005020,p.G490E|ENST00000396193,p.G550E|NM_001191056,p.G490E|uc003tco.2,p.G550E|uc003tcn.1,p.G490E	retained_intron, protein_coding, processed_transcript	uc003tcs.3	nonsynonymous SNV	exon15	c.G1469A	p.G490E	AKRSGVKTSGSEGSAPINNSVISVD	AKRSGVKTSGSEESAPINNSVISVD	1.0	1.0	unscreened	-	4155_7:31862800-31862800 C>T_AKRSGVKTSGSEESAPINNSVISVD
21:39087069-39087069 G>A	0.0	4155	MELANOMA	-	-	-	-	KCNJ6	NM_002240,p.P131S|ENST00000288309,p.P131S|ENST00000400482,p.P131S|uc011aej.2,p.P131S|uc002ywo.3,p.P131S	protein_coding	uc011aej.2	nonsynonymous SNV	exon3	c.C391T	p.P131S	GDMDHIEDPSWTPCVTNLNGFVSAF	GDMDHIEDPSWTSCVTNLNGFVSAF	1.0	9.0	unscreened	-	4155_21:39087069-39087069 G>A_GDMDHIEDPSWTSCVTNLNGFVSAF
8:37794544-37794544 C>T	0.0	4155	MELANOMA	-	-	-	-	GOT1L1	ENST00000307599,p.G184E|NM_152413,p.G184E|uc011lbj.1,p.G184E	protein_coding	uc011lbj.1	nonsynonymous SNV	exon5	c.G551A	p.G184E	VEQIPHGCVLVMGNIIDCKLTPSGW	VEQIPHGCVLVMENIIDCKLTPSGW	1.0	7.0	unscreened	-	4155_8:37794544-37794544 C>T_VEQIPHGCVLVMENIIDCKLTPSGW
20:61937313-61937313 C>T	0.0	4155	MELANOMA	-	-	-	-	COL20A1	ENST00000422202,p.H140Y|ENST00000326996,p.H140Y|NM_020882,p.H140Y|ENST00000358894,p.H140Y|ENST00000435874,p.H140Y|uc011aau.2,p.H140Y	retained_intron, protein_coding, processed_transcript	uc011aau.2	nonsynonymous SNV	exon5	c.C418T	p.H140Y	PLGSGAPEPTPSHTGSPDPEQASEP	PLGSGAPEPTPSYTGSPDPEQASEP	2.0	1.0	unscreened	-	4155_20:61937313-61937313 C>T_PLGSGAPEPTPSYTGSPDPEQASEP
11:102573820-102573820 C>T	0.0	4155	MELANOMA	-	-	ID=COSM3442691;OCCURENCE=1(upper_aerodigestive_tract)	-	MMP27	ENST00000260229,p.R124Q|uc001phd.1,p.R124Q|NM_022122,p.R124Q	protein_coding	uc001phd.1	nonsynonymous SNV	exon3	c.G371A	p.R124Q	TYRIINYTPDMARAAVDEAIQEGLE	TYRIINYTPDMAQAAVDEAIQEGLE	1.0	3.0	unscreened	-	4155_11:102573820-102573820 C>T_TYRIINYTPDMAQAAVDEAIQEGLE
11:73073656-73073656 G>A	0.0	4155	MELANOMA	-	-	-	-	ARHGEF17	uc001otu.3,p.E1625K|NM_014786,p.E1625K|ENST00000263674,p.E1625K	retained_intron, protein_coding, processed_transcript	uc001otu.3	nonsynonymous SNV	exon14	c.G4873A	p.E1625K	AGSGLEMTPGLGEGDPRPELVPFDS	AGSGLEMTPGLGKGDPRPELVPFDS	7.0	7.0	unscreened	-	4155_11:73073656-73073656 G>A_AGSGLEMTPGLGKGDPRPELVPFDS
3:52550201-52550201 G>A	0.0	4155	MELANOMA	-	-	-	-	STAB1	NM_015136,p.G1364E|ENST00000321725,p.G1364E|uc003dej.3,p.G1364E	retained_intron, protein_coding	uc003dej.3	nonsynonymous SNV	exon38	c.G4091A	p.G1364E	GSGECHCHEGFHGTACEVCELGRYG	GSGECHCHEGFHETACEVCELGRYG	9.0	4.0	-	-	4155_3:52550201-52550201 G>A_GSGECHCHEGFHETACEVCELGRYG
1:247712513-247712513 G>A	0.0	4155	MELANOMA	-	-	ID=COSM907040,COSM907041;OCCURENCE=1(endometrium),1(liver)	-	GCSAML	uc001idf.3,p.R7Q|NM_145278,p.R7Q|NM_001281853,p.R7Q|ENST00000366488,p.R7Q|ENST00000526896,p.R7Q	protein_coding, processed_transcript	uc001idf.3	nonsynonymous SNV	exon1	c.G20A	p.R7Q	MGNYLLRKLSCLGENQKKP	MGNYLLQKLSCLGENQKKP	2.0	5.0	unscreened	-	4155_1:247712513-247712513 G>A_MGNYLLQKLSCLGENQKKP
4:115856409-115856409 T>C	0.0	4155	MELANOMA	-	-	-	-	NDST4	uc031sgw.1,p.K83E|NM_022569,p.K497E|ENST00000264363,p.K497E|uc003ibu.3,p.K497E|ENST00000504854,p.K118E	retained_intron, protein_coding, nonsense_mediated_decay	uc031sgw.1	nonsynonymous SNV	exon6	c.A247G	p.K83E	YKEYPGGPQELDKSIRGGELFLTIL	YKEYPGGPQELDESIRGGELFLTIL	1.0	1.0	unscreened	-	4155_4:115856409-115856409 T>C_YKEYPGGPQELDESIRGGELFLTIL
6:128304027-128304027 C>T	0.0	4155	MELANOMA	-	-	-	1	PTPRK	ENST00000532331,p.M1184I|uc003qbj.3,p.M1162I|ENST00000368207,p.M1194I|ENST00000368226,p.M1162I|NM_001291984,p.M1161I|uc011ebu.2,p.M1184I|NM_001135648,p.M1168I|ENST00000368215,p.M1161I|ENST00000368210,p.M1180I|uc010kfc.3,p.M1168I|uc003qbk.3,p.M1161I|ENST00000368213,p.M1168I|NM_001291981,p.M1184I|ENST00000368227,p.M1179I|NM_002844,p.M1162I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ebu.2	nonsynonymous SNV	exon27	c.G3552A	p.M1184I	IPVCEFKAAYFDMIRIDSQTNSSHL	IPVCEFKAAYFDIIRIDSQTNSSHL	1.0	8.0	unscreened	-	4155_6:128304027-128304027 C>T_IPVCEFKAAYFDIIRIDSQTNSSHL
2:179611984-179611984 C>T	0.0	4155	MELANOMA	-	-	-	-	TTN	NM_133379,p.G5048E|ENST00000360870,p.G5048E|uc002unb.3,p.G5048E	retained_intron, protein_coding	uc002unb.3	nonsynonymous SNV	exon46	c.G15143A	p.G5048E	AERYSTPSEGEVGERYSTPPGETLE	AERYSTPSEGEVEERYSTPPGETLE	2.0	2.0	unscreened	-	4155_2:179611984-179611984 C>T_AERYSTPSEGEVEERYSTPPGETLE
15:97326937-97326937 G>A	0.0	4155	MELANOMA	-	-	ID=COSM1167894;OCCURENCE=2(skin)	-	SPATA8	uc002bue.3,p.E18K|ENST00000328504,p.E18K|NM_173499,p.E18K	retained_intron, protein_coding	uc002bue.3	nonsynonymous SNV	exon1	c.G52A	p.E18K	MSGAQDNSCLYQEIAPSFQRLPCPR	MSGAQDNSCLYQKIAPSFQRLPCPR	1.0	3.0	unscreened	-	4155_15:97326937-97326937 G>A_MSGAQDNSCLYQKIAPSFQRLPCPR
17:10426875-10426875 C>T	0.0	4155	MELANOMA	-	-	-	-	MYH2	uc002gmp.4,p.D1804N|uc010coi.3,p.D1804N|ENST00000245503,p.D1804N|ENST00000397183,p.D1804N|NM_017534,p.D1804N|NM_001100112,p.D1804N	protein_coding	uc010coi.3	nonsynonymous SNV	exon37	c.G5410A	p.D1804N	MEQTVKDLQLRLDEAEQLALKGGKK	MEQTVKDLQLRLNEAEQLALKGGKK	1.0	3.0	unscreened	-	4155_17:10426875-10426875 C>T_MEQTVKDLQLRLNEAEQLALKGGKK
1:152328472-152328472 C>A	0.0	4155	MELANOMA	-	-	ID=COSM1293198;OCCURENCE=1(cervix)	-	FLG2	NM_001014342,p.G597V|ENST00000388718,p.G597V|uc001ezw.4,p.G597V	protein_coding	uc001ezw.4	nonsynonymous SNV	exon3	c.G1790T	p.G597V	SGSGQSSGFGQHGSGSGQSSGFGQH	SGSGQSSGFGQHVSGSGQSSGFGQH	1.0	1.0	unscreened	-	4155_1:152328472-152328472 C>A_SGSGQSSGFGQHVSGSGQSSGFGQH
6:136687137-136687137 G>A	0.0	4155	MELANOMA	-	-	-	-	MAP7	ENST00000544465,p.P322S|uc010kgv.3,p.P359S|NM_001198615,p.P322S|ENST00000354570,p.P337S|uc010kgq.2,p.P243S|uc011edh.2,p.P322S|NM_001198619,p.P191S|NM_001198609,p.P367S|ENST00000454590,p.P359S|NM_001198617,p.P243S|NM_001198616,p.P300S|NM_001198614,p.P359S|uc011edi.2,p.P191S|uc010kgr.2,p.P191S|NM_001198608,p.P359S|NM_003980,p.P337S|uc003qha.2,p.P300S|uc011edg.2,p.P367S|uc010kgs.3,p.P191S|uc003qgz.3,p.P337S|NM_001198618,p.P191S|ENST00000432797,p.P191S|uc011edf.2,p.P322S|uc010kgu.3,p.P359S|NM_001198611,p.P322S|ENST00000438100,p.P322S	protein_coding	uc011edi.2	nonsynonymous SNV	exon10	c.C571T	p.P191S	ARSRLWLPSKSLPHLPGTPRPTSSL	ARSRLWLPSKSLSHLPGTPRPTSSL	3.0	7.0	-	-	4155_6:136687137-136687137 G>A_ARSRLWLPSKSLSHLPGTPRPTSSL
7:113522168-113522168 C>T	0.0	4155	MELANOMA	-	-	-	-	PPP1R3A	ENST00000284601,p.E298K|uc010ljy.1,p.E298K|NM_002711,p.E298K	protein_coding, nonsense_mediated_decay	uc010ljy.1	nonsynonymous SNV	exon3	c.G892A	p.E298K	TIICSHEDKEDLEASNRNVKDVNRE	TIICSHEDKEDLKASNRNVKDVNRE	1.0	1.0	unscreened	-	4155_7:113522168-113522168 C>T_TIICSHEDKEDLKASNRNVKDVNRE
11:22387194-22387194 G>A	0.0	4155	MELANOMA	-	-	-	-	SLC17A6	uc001mqk.3,p.E284K|NM_020346,p.E284K|ENST00000263160,p.E284K	retained_intron, protein_coding	uc001mqk.3	nonsynonymous SNV	exon7	c.G850A	p.E284K	PTITDEERRYIEESIGESANLLGAM	PTITDEERRYIEKSIGESANLLGAM	1.0	2.0	unscreened	-	4155_11:22387194-22387194 G>A_PTITDEERRYIEKSIGESANLLGAM
8:143425327-143425327 C>T	0.0	4155	MELANOMA	-	-	-	-	TSNARE1	uc011lju.2,p.A249T|uc003ywj.3,p.A249T|ENST00000524325,p.A249T|ENST00000307180,p.A249T|NM_145003,p.A249T|ENST00000520166,p.A249T|uc003ywk.3,p.A249T	protein_coding, processed_transcript	uc011lju.2	nonsynonymous SNV	exon3	c.G745A	p.A249T	LPSEGFSLEPPRATQVDPCNLQELF	LPSEGFSLEPPRTTQVDPCNLQELF	7.0	2.0	unscreened	-	4155_8:143425327-143425327 C>T_LPSEGFSLEPPRTTQVDPCNLQELF
6:84233882-84233882 G>A	0.0	4155	MELANOMA	-	-	-	-	PRSS35	uc003pjz.3,p.R241K|uc021zce.1,p.R241K|NM_001170423,p.R241K|uc010kbm.3,p.R241K|ENST00000536636,p.R241K|NM_153362,p.R241K|ENST00000369700,p.R241K	protein_coding	uc021zce.1	nonsynonymous SNV	exon1	c.G722A	p.R241K	GGRRRKKSGRGQRIAEGRPSFQWTR	GGRRRKKSGRGQKIAEGRPSFQWTR	1.0	9.0	unscreened	-	4155_6:84233882-84233882 G>A_GGRRRKKSGRGQKIAEGRPSFQWTR
11:78437220-78437220 C>T	0.0	4155	MELANOMA	-	-	-	-	TENM4	uc001ozl.4,p.E1152K|NM_001098816,p.E1152K|ENST00000278550,p.E1152K	retained_intron, protein_coding, processed_transcript	uc001ozl.4	nonsynonymous SNV	exon23	c.G3454A	p.E1152K	YEYESCPDLILWEKRTTVLQGYEID	YEYESCPDLILWKKRTTVLQGYEID	3.0	6.0	unscreened	-	4155_11:78437220-78437220 C>T_YEYESCPDLILWKKRTTVLQGYEID
2:179499962-179499962 T>A	0.0	4155	MELANOMA	-	-	-	-	TTN	uc021vsz.2,p.D5112V|uc031rqd.1,p.D12344V|NM_001256850,p.D12344V|ENST00000589042,p.D13985V|ENST00000342175,p.D5112V|NM_133437,p.D5112V|ENST00000460472,p.D4920V|NM_133432,p.D5045V|NM_001267550,p.D13985V|ENST00000359218,p.D5045V|NM_133378,p.D11417V|ENST00000342992,p.D11417V|NM_003319,p.D4920V|uc031rqc.1,p.D13985V|uc021vsy.2,p.D11417V|uc021vta.2,p.D5045V|ENST00000591111,p.D12344V|uc021vtb.2,p.D4920V	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon178	c.A37031T	p.D12344V	DVTIYEKESASFDAEISEADIPGQW	DVTIYEKESASFVAEISEADIPGQW	2.0	7.0	unscreened	-	4155_2:179499962-179499962 T>A_DVTIYEKESASFVAEISEADIPGQW
6:33152774-33152774 C>T	1.0	4155	MELANOMA	-	-	-	-	COL11A2	ENST00000341947,p.E312K|ENST00000374714,p.E286K|NM_080680,p.E312K|ENST00000457788,p.E312K|uc003ocx.1,p.E312K	protein_coding, processed_transcript	uc003ocx.1	nonsynonymous SNV	exon7	c.G934A	p.E312K	EEILESSLLPPLEEEQTDLQVPPTA	EEILESSLLPPLKEEQTDLQVPPTA	5.0	9.0	-	-	4155_6:33152774-33152774 C>T_EEILESSLLPPLKEEQTDLQVPPTA
4:122854186-122854186 C>T	0.0	4155	MELANOMA	-	-	-	-	TRPC3	NM_001130698,p.G76E|uc003ieg.2,p.G76E|ENST00000379645,p.G76E	protein_coding, nonsense_mediated_decay	uc003ieg.2	nonsynonymous SNV	exon2	c.G227A	p.G76E	PPFSHGPDLSMEGSPSLRRMTVMRE	PPFSHGPDLSMEESPSLRRMTVMRE	1.0	7.0	unscreened	-	4155_4:122854186-122854186 C>T_PPFSHGPDLSMEESPSLRRMTVMRE
7:150692295-150692295 C>T	0.0	4155	MELANOMA	-	-	-	-	NOS3	ENST00000467517,p.P55S|uc003wif.3,p.P55S|NM_001160109,p.P55S|NM_001160111,p.P55S|uc011kuz.2,p.P55S|NM_000603,p.P55S|ENST00000484524,p.P55S|NM_001160110,p.P55S|ENST00000297494,p.P55S|uc011kvb.2,p.P55S|uc011kva.2,p.P55S	retained_intron, protein_coding, processed_transcript	uc011kvb.2	nonsynonymous SNV	exon2	c.C163T	p.P55S	ASLLPPAPEHSPPSSPLTQPPEGPK	ASLLPPAPEHSPSSSPLTQPPEGPK	4.0	1.0	unscreened	-	4155_7:150692295-150692295 C>T_ASLLPPAPEHSPSSSPLTQPPEGPK
12:11421038-11421038 G>C	0.0	4155	MELANOMA	-	-	-	-	PRB3	ENST00000538488,p.R49G|ENST00000381842,p.R49G|NM_006249,p.R49G|uc001qzs.3,p.R49G	retained_intron, protein_coding, processed_transcript, polymorphic_pseudogene	uc001qzs.3	nonsynonymous SNV	exon3	c.C145G	p.R49G	EGRRPQGGNQPQRTPPPPGKPEGRP	EGRRPQGGNQPQGTPPPPGKPEGRP	1.0	1.0	unscreened	-	4155_12:11421038-11421038 G>C_EGRRPQGGNQPQGTPPPPGKPEGRP
19:56935228-56935228 G>T	0.0	4155	MELANOMA	-	-	-	-	ZNF583	uc010ygm.1,p.V401F|ENST00000333201,p.V401F|NM_001159861,p.V401F|NM_152478,p.V401F|NM_001159860,p.V401F|uc002qnc.2,p.V401F|ENST00000291598,p.V401F|uc010ygl.1,p.V401F	retained_intron, protein_coding, processed_transcript	uc010ygm.1	nonsynonymous SNV	exon5	c.G1201T	p.V401F	FSQYAHLAQHQRVHTGEKPYECKVC	FSQYAHLAQHQRFHTGEKPYECKVC	2.0	1.0	unscreened	-	4155_19:56935228-56935228 G>T_FSQYAHLAQHQRFHTGEKPYECKVC
22:44285681-44285681 C>T	0.0	4155	MELANOMA	-	-	-	-	PNPLA5	ENST00000216177,p.E164K|NM_138814,p.E164K|uc021wqw.1,p.E164K|ENST00000597664,p.E164K|uc003beg.3,p.E164K	protein_coding	uc021wqw.1	nonsynonymous SNV	exon3	c.G490A	p.E164K	FYCGLIPPEFRGERYIDGALSNNLP	FYCGLIPPEFRGKRYIDGALSNNLP	1.0	7.0	unscreened	-	4155_22:44285681-44285681 C>T_FYCGLIPPEFRGKRYIDGALSNNLP
10:26442779-26442779 G>A	0.0	4155	MELANOMA	-	-	-	-	MYO3A	NM_017433,p.G879D|ENST00000265944,p.G879D|uc009xko.1,p.G879D|uc001isn.2,p.G879D	protein_coding, processed_transcript	uc009xko.1	nonsynonymous SNV	exon24	c.G2636A	p.G879D	IRQLVNHPLTKTGNLPHSKTKNVIN	IRQLVNHPLTKTDNLPHSKTKNVIN	1.0	6.0	unscreened	-	4155_10:26442779-26442779 G>A_IRQLVNHPLTKTDNLPHSKTKNVIN
19:43859851-43859851 G>A	0.0	4155	MELANOMA	-	-	-	-	CD177	uc002owi.3,p.E140K|ENST00000378009,p.E140K	protein_coding	uc002owi.3	nonsynonymous SNV	exon4	c.G418A	p.E140K	PGSLRCPVCLSMEGCLEGTTEEICP	PGSLRCPVCLSMKGCLEGTTEEICP	1.0	8.0	unscreened	-	4155_19:43859851-43859851 G>A_PGSLRCPVCLSMKGCLEGTTEEICP
2:166872159-166872159 C>T	0.0	4155	MELANOMA	-	-	-	-	SCN1A	NM_001165963,p.E1170K|ENST00000409050,p.E1142K|uc002udo.4,p.E1170K|NM_006920,p.E1159K|uc021vsb.1,p.E1159K|NM_001165964,p.E1142K|ENST00000375405,p.E1159K|NM_001202435,p.E1170K|uc010fpk.3,p.E1142K|ENST00000423058,p.E1170K|ENST00000303395,p.E1170K	retained_intron, protein_coding	uc021vsb.1	nonsynonymous SNV	exon17	c.G3475A	p.E1159K	DIGAPVEEQPVVEPEETLEPEACFT	DIGAPVEEQPVVKPEETLEPEACFT	1.0	9.0	unscreened	-	4155_2:166872159-166872159 C>T_DIGAPVEEQPVVKPEETLEPEACFT
17:10310046-10310046 C>T	0.0	4155	MELANOMA	-	-	ID=COSM107553;OCCURENCE=1(skin)	-	MYH8	NM_002472,p.G711E|ENST00000403437,p.G711E|uc002gmm.2,p.G711E	protein_coding	uc002gmm.2	nonsynonymous SNV	exon19	c.G2132A	p.G711E	NGVLEGIRICRKGFPSRILYGDFKQ	NGVLEGIRICRKEFPSRILYGDFKQ	1.0	8.0	unscreened	-	4155_17:10310046-10310046 C>T_NGVLEGIRICRKEFPSRILYGDFKQ
15:93016293-93016293 G>A	0.0	4155	MELANOMA	-	-	-	-	C15orf32	NM_153040,p.S162N|uc002brc.1,p.S162N|ENST00000333334,p.S162N	protein_coding	uc002brc.1	nonsynonymous SNV	exon2	c.G485A	p.S162N	IERHQKRHLMRVSQDWEHLIRYRNQ	IERHQKRHLMRVNQDWEHLIRYRNQ	1.0	7.0	unscreened	-	4155_15:93016293-93016293 G>A_IERHQKRHLMRVNQDWEHLIRYRNQ
3:164786982-164786982 C>T	0.0	4155	MELANOMA	-	-	-	-	SI	ENST00000264382,p.G86E|uc003fei.3,p.G86E|NM_001041,p.G86E	retained_intron, protein_coding, nonsense_mediated_decay	uc003fei.3	nonsynonymous SNV	exon4	c.G257A	p.G86E	RINCIPEQFPTEGICAQRGCCWRPW	RINCIPEQFPTEEICAQRGCCWRPW	1.0	6.0	unscreened	-	4155_3:164786982-164786982 C>T_RINCIPEQFPTEEICAQRGCCWRPW
13:60498942-60498942 T>C	1.0	4155	MELANOMA	-	-	-	-	DIAPH3	uc010aed.2,p.K667E|ENST00000377908,p.K702E|NM_030932,p.K450E|ENST00000267215,p.K713E|ENST00000400324,p.K713E|NM_001258366,p.K702E|uc001vhw.2,p.K702E|uc010aee.2,p.K643E|uc001vhv.4,p.K450E|uc001vhu.3,p.K450E|uc001vht.4,p.K713E|NM_001258369,p.K713E|NM_001042517,p.K713E|ENST00000400330,p.K713E|NM_001258370,p.K450E|ENST00000400320,p.K667E|ENST00000400319,p.K643E|NM_001258368,p.K643E|uc031qlw.1,p.K713E|NM_001258367,p.K667E	protein_coding, processed_transcript	uc031qlw.1	nonsynonymous SNV	exon18	c.A2137G	p.K713E	EKKSIKKKIKELKFLDSKIAQNLSI	EKKSIKKKIKELEFLDSKIAQNLSI	8.0	6.0	-	-	4155_13:60498942-60498942 T>C_EKKSIKKKIKELEFLDSKIAQNLSI
19:38376888-38376888 C>T	0.0	4155	MELANOMA	-	-	-	-	WDR87	NM_031951,p.E2436K|ENST00000303868,p.E2436K|NM_001291088,p.E2475K|uc002ohj.2,p.E2475K|uc010efu.2,p.E2436K|ENST00000447313,p.E2475K	retained_intron, protein_coding	uc010efu.2	nonsynonymous SNV	exon6	c.G7306A	p.E2436K	EIPRKFLGTMDKEREVMGKYEPIPP	EIPRKFLGTMDKKREVMGKYEPIPP	1.0	2.0	unscreened	-	4155_19:38376888-38376888 C>T_EIPRKFLGTMDKKREVMGKYEPIPP
3:161221716-161221716 G>A	0.0	4155	MELANOMA	-	-	-	-	OTOL1	ENST00000327928,p.G474R|NM_001080440,p.G474R|uc011bpb.2,p.G474R	protein_coding	uc011bpb.2	nonsynonymous SNV	exon4	c.G1420A	p.G474R	FTGFLLYPEETSGISP	FTGFLLYPEETSRISP	1.0	5.0	unscreened	-	4155_3:161221716-161221716 G>A_FTGFLLYPEETSRISP
2:155158006-155158006 C>T	0.0	4155	MELANOMA	-	-	-	-	GALNT13	NM_052917,p.P354S|uc010foc.1,p.P173S|ENST00000409237,p.P354S|NM_001301627,p.P354S|ENST00000392825,p.P354S|uc002tyr.4,p.P354S|uc002tyt.4,p.P354S|uc010fod.3,p.P107S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fod.3	nonsynonymous SNV	exon3	c.C319T	p.P107S	GHVFRKATPYTFPGGTGHVINKNNR	GHVFRKATPYTFSGGTGHVINKNNR	1.0	5.0	unscreened	-	4155_2:155158006-155158006 C>T_GHVFRKATPYTFSGGTGHVINKNNR
1:216073486-216073486 G>A	0.0	4155	MELANOMA	-	-	ID=COSM1231930;OCCURENCE=1(large_intestine),1(central_nervous_system),1(lung)	-	USH2A	NM_206933,p.R2509W|ENST00000307340,p.R2509W|uc001hku.1,p.R2509W|ENST00000366943,p.R2509W	retained_intron, protein_coding	uc001hku.1	nonsynonymous SNV	exon40	c.C7525T	p.R2509W	VSDLQPYTEYMFRLVASNGFGSAHS	VSDLQPYTEYMFWLVASNGFGSAHS	1.0	6.0	unscreened	-	4155_1:216073486-216073486 G>A_VSDLQPYTEYMFWLVASNGFGSAHS
13:46276968-46276968 C>T	0.0	4155	MELANOMA	-	-	-	-	SPERT	ENST00000310521,p.P45L|NM_152719,p.P45L|uc001van.1,p.P45L	protein_coding	uc001van.1	nonsynonymous SNV	exon2	c.C134T	p.P45L	RKRDTRSESLEIPISVVLPQRGTAE	RKRDTRSESLEILISVVLPQRGTAE	1.0	3.0	unscreened	-	4155_13:46276968-46276968 C>T_RKRDTRSESLEILISVVLPQRGTAE
14:20002242-20002242 C>T	0.0	4155	MELANOMA	-	-	-	-	POTEM	ENST00000547848,p.E394K|NM_001145442,p.E394K|uc001vwc.3,p.E394K|ENST00000551509,p.E394K	protein_coding, nonsense_mediated_decay	uc001vwc.3	nonsynonymous SNV	exon7	c.G1180A	p.E394K	TSEEESQRLKGSENSQPEEMSQEPE	TSEEESQRLKGSKNSQPEEMSQEPE	1.0	1.0	unscreened	-	4155_14:20002242-20002242 C>T_TSEEESQRLKGSKNSQPEEMSQEPE
22:16269890-16269890 C>T	0.0	4155	MELANOMA	-	-	-	-	POTEH	uc002zlh.1,p.E150K|uc002zlj.1,p.E266K|NM_001136213,p.E431K|uc010gqp.2,p.E431K|ENST00000343518,p.E431K	protein_coding, nonsense_mediated_decay	uc010gqp.2	nonsynonymous SNV	exon7	c.G1291A	p.E431K	TSEEESQRLKGSENSQPEEMSQEPE	TSEEESQRLKGSKNSQPEEMSQEPE	1.0	1.0	unscreened	-	4155_22:16269890-16269890 C>T_TSEEESQRLKGSKNSQPEEMSQEPE
12:118293383-118293383 C>T	0.0	4155	MELANOMA	-	-	-	-	KSR2	ENST00000425217,p.E79K|ENST00000339824,p.E108K|NM_173598,p.E79K|uc001two.2,p.E79K	retained_intron, protein_coding, processed_transcript	uc001two.2	nonsynonymous SNV	exon3	c.G235A	p.E79K	FRIVDVRKEVLEEISPGQLSLEDLL	FRIVDVRKEVLEKISPGQLSLEDLL	1.0	7.0	unscreened	-	4155_12:118293383-118293383 C>T_FRIVDVRKEVLEKISPGQLSLEDLL
7:96635363-96635363 ->GCA	0.0	4155	MELANOMA	-	-	-	-	DLX6	ENST00000007660,p.G25delinsGQ	protein_coding, processed_transcript	ENST00000007660	nonframeshift insertion	exon1	c.74_75insGCA	p.G25delinsGQ	GQDSSKSAFMEFGQQQQQQHSPAMA	GQDSSKSAFMEFGQQQQQQQHSPAM	1.0	1.0	unscreened	-	4155_7:96635363-96635363 ->GCA_GQDSSKSAFMEFGQQQQQQQHSPAM
12:99194864-99194864 G>A	0.0	4155	MELANOMA	-	-	-	-	ANKS1B	ENST00000552407,p.P42S|ENST00000549797,p.P42S|NM_001204069,p.P226S|ENST00000549025,p.P134S|ENST00000333732,p.P66S|ENST00000549558,p.P202S|NM_020140,p.P202S|NM_001204081,p.P42S|NM_181670,p.P286S|NM_001204080,p.P42S|ENST00000546364,p.P66S|uc001tgf.2,p.P552S|ENST00000550693,p.P226S|NM_001204068,p.P262S|NM_001204066,p.P134S|uc010svf.2,p.P66S|uc001tgh.4,p.P42S|uc009zts.2,p.P262S|NM_001204070,p.P202S|uc010svd.2,p.P42S|uc001tgk.3,p.P333S|NM_001204079,p.P67S|ENST00000547010,p.P552S|uc010sve.2,p.P66S|ENST00000341752,p.P42S|uc001tge.2,p.P1036S|NM_152788,p.P1036S|ENST00000329257,p.P1036S|ENST00000546960,p.P262S|uc001tgi.3,p.P286S|NM_001204065,p.P66S|ENST00000549493,p.P286S|NM_001204067,p.P171S|uc001tgj.3,p.P202S|ENST00000547776,p.P1036S|ENST00000547446,p.P171S|uc009ztr.3,p.P226S|ENST00000546568,p.P202S|uc010svg.2,p.P171S|uc001tgg.4,p.P134S|ENST00000332712,p.P226S|uc001tgd.2,p.P202S|uc009ztp.3,p.P67S|ENST00000547362,p.P42S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010svg.2	nonsynonymous SNV	exon6	c.C511T	p.P171S	GDWGEPSITLRPPNEATASTPVQYW	GDWGEPSITLRPSNEATASTPVQYW	2.0	9.0	unscreened	-	4155_12:99194864-99194864 G>A_GDWGEPSITLRPSNEATASTPVQYW
12:55641591-55641591 C>T	0.0	4155	MELANOMA	-	-	-	-	OR6C74	uc010spg.2,p.H174Y|ENST00000343870,p.H174Y|NM_001005490,p.H174Y	protein_coding	uc010spg.2	nonsynonymous SNV	exon1	c.C520T	p.H174Y	LQLDFCAANTVDHFFCDVSPILQLS	LQLDFCAANTVDYFFCDVSPILQLS	1.0	7.0	unscreened	-	4155_12:55641591-55641591 C>T_LQLDFCAANTVDYFFCDVSPILQLS
12:124414219-124414219 G>A	0.0	4155	MELANOMA	-	-	-	-	DNAH10	uc001uft.4,p.M4057I|NM_207437,p.M4057I|ENST00000409039,p.M4057I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uft.4	nonsynonymous SNV	exon71	c.G12171A	p.M4057I	YYDFNESDFQVCMEILNTYLTKAFQ	YYDFNESDFQVCIEILNTYLTKAFQ	3.0	5.0	unscreened	-	4155_12:124414219-124414219 G>A_YYDFNESDFQVCIEILNTYLTKAFQ
6:146956657-146956657 G>A	0.0	4155	MELANOMA	-	-	-	-	ADGB	NM_024694,p.G74E|ENST00000522242,p.G68E|uc010khx.3,p.G74E|ENST00000493950,p.G74E|ENST00000397944,p.G74E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010khx.3	nonsynonymous SNV	exon2	c.G221A	p.G74E	DAGKGAKEKDKTGKSPVFHFFEDPE	DAGKGAKEKDKTEKSPVFHFFEDPE	1.0	9.0	unscreened	-	4155_6:146956657-146956657 G>A_DAGKGAKEKDKTEKSPVFHFFEDPE
8:113402935-113402935 A>T	0.0	4155	MELANOMA	-	-	-	2	CSMD3	uc003ynu.3,p.N1964K|uc003yns.3,p.N1166K|ENST00000343508,p.N1924K|NM_198123,p.N1964K|NM_052900,p.N1860K|ENST00000352409,p.N1894K|uc003ynt.3,p.N1924K|ENST00000297405,p.N1964K|ENST00000455883,p.N1860K|ENST00000339701,p.N1234K|NM_198124,p.N1924K|uc011lhx.2,p.N1860K	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon35	c.T5580A	p.N1860K	SPGYPEPYDNNLNCVWKITVPEGAG	SPGYPEPYDNNLKCVWKITVPEGAG	1.0	8.0	unscreened	-	4155_8:113402935-113402935 A>T_SPGYPEPYDNNLKCVWKITVPEGAG
2:196720635-196720635 C>T	0.0	4155	MELANOMA	-	-	-	-	DNAH7	uc002utj.4,p.R2832K|NM_018897,p.R2832K|ENST00000312428,p.R2832K	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon45	c.G8495A	p.R2832K	AEGELKIAMDGLRKKQAALKEVQDK	AEGELKIAMDGLKKKQAALKEVQDK	2.0	9.0	unscreened	-	4155_2:196720635-196720635 C>T_AEGELKIAMDGLKKKQAALKEVQDK
20:30527024-30527024 C>T	0.0	4155	MELANOMA	-	-	-	-	TTLL9	NM_001008409,p.P400S|uc010gdx.1,p.P400S|ENST00000535842,p.P400S|ENST00000375938,p.P400S|uc002wxc.2,p.P302S	protein_coding	uc010gdx.1	nonsynonymous SNV	exon14	c.C1198T	p.P400S	WNDGPVSREEGAPDLSGMGNFVTNT	WNDGPVSREEGASDLSGMGNFVTNT	1.0	3.0	unscreened	-	4155_20:30527024-30527024 C>T_WNDGPVSREEGASDLSGMGNFVTNT
2:179839816-179839816 G>A	0.0	4155	MELANOMA	-	-	-	-	CCDC141	ENST00000443758,p.S165L|NM_173648,p.S165L|ENST00000446116,p.S165L|ENST00000409284,p.S165L|ENST00000420890,p.S165L|uc002une.2,p.S165L|uc002ung.3,p.S165L	protein_coding, processed_transcript	uc002ung.3	nonsynonymous SNV	exon4	c.C494T	p.S165L	NTHEFESAESLKSLLQLHEHHTKEL	NTHEFESAESLKLLLQLHEHHTKEL	1.0	2.0	unscreened	-	4155_2:179839816-179839816 G>A_NTHEFESAESLKLLLQLHEHHTKEL
17:19611778-19611778 G>A	0.0	4155	MELANOMA	-	-	-	-	SLC47A2	ENST00000325411,p.P192S|uc002gwe.4,p.P192S|NM_152908,p.P192S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gwe.4	nonsynonymous SNV	exon7	c.C574T	p.P192S	LKGQEEESPFQTPGLSILHPSHSHL	LKGQEEESPFQTSGLSILHPSHSHL	1.0	4.0	unscreened	-	4155_17:19611778-19611778 G>A_LKGQEEESPFQTSGLSILHPSHSHL
12:50472303-50472303 G>A	0.0	4155	MELANOMA	-	-	-	-	ASIC1	uc009zlo.4,p.D313N|ENST00000228468,p.D313N|uc001rvw.4,p.D313N|NM_001256830,p.D347N|uc001rvv.4,p.D313N|ENST00000447966,p.D313N|uc031qhf.1,p.D216N|uc009zln.4,p.D104N|NM_020039,p.D313N|uc021qxr.2,p.D347N|ENST00000552438,p.D347N|NM_001095,p.D313N	retained_intron, protein_coding, nonsense_mediated_decay	uc031qhf.1	nonsynonymous SNV	exon5	c.G646A	p.D216N	FFDSYSITACRIDCETRYLVENCNC	FFDSYSITACRINCETRYLVENCNC	4.0	8.0	-	-	4155_12:50472303-50472303 G>A_FFDSYSITACRINCETRYLVENCNC
18:47488716-47488716 C>T	0.0	4155	MELANOMA	-	-	-	-	MYO5B	ENST00000285039,p.D489N|NM_001080467,p.D489N|uc021ukb.1,p.D488N|uc002leb.2,p.D489N	retained_intron, protein_coding, processed_transcript	uc021ukb.1	nonsynonymous SNV	exon12	c.G1462A	p.D488N	EYMKEQIPWTLIDFYDNQPCIDLIE	EYMKEQIPWTLINFYDNQPCIDLIE	3.0	3.0	unscreened	-	4155_18:47488716-47488716 C>T_EYMKEQIPWTLINFYDNQPCIDLIE
1:16560190-16560190 G>A	0.0	4155	MELANOMA	-	-	-	-	RSG1	ENST00000375599,p.S61F|NM_030907,p.S61F|uc001ayd.3,p.S61F	protein_coding, processed_transcript	uc001ayd.3	nonsynonymous SNV	exon2	c.C182T	p.S61F	VSIDTASYKIFVSGKSGVGKTALVA	VSIDTASYKIFVFGKSGVGKTALVA	5.0	4.0	unscreened	-	4155_1:16560190-16560190 G>A_VSIDTASYKIFVFGKSGVGKTALVA
2:40342533-40342533 G>A	0.0	4155	MELANOMA	-	-	ID=COSM379204;OCCURENCE=1(lung)	-	SLC8A1	uc002rrz.3,p.R915W|NM_001252624,p.R920W|uc002rry.3,p.R923W|ENST00000406785,p.R892W|ENST00000405269,p.R892W|NM_021097,p.R928W|ENST00000332839,p.R928W|ENST00000542024,p.R892W|uc002rsd.4,p.R892W|NM_001112801,p.R915W|uc002rsa.3,p.R892W|NM_001112802,p.R892W|uc002rsb.2,p.R920W|ENST00000408028,p.R920W|ENST00000405901,p.R923W|ENST00000406391,p.R892W|ENST00000542756,p.R923W|ENST00000402441,p.R892W|uc002rrx.3,p.R928W|NM_001112800,p.R923W|ENST00000403092,p.R928W	protein_coding, nonsense_mediated_decay	uc002rsd.4	nonsynonymous SNV	exon8	c.C2674T	p.R892W	IFAFINVGVLLYRRRPEIGGELGGP	IFAFINVGVLLYWRRPEIGGELGGP	1.0	7.0	unscreened	-	4155_2:40342533-40342533 G>A_IFAFINVGVLLYWRRPEIGGELGGP
18:50985736-50985736 G>A	0.0	4155	MELANOMA	-	-	-	2	DCC	ENST00000442544,p.R1176K|uc002lfe.2,p.R1176K|uc010dpf.2,p.R811K|NM_005215,p.R1176K|ENST00000581580,p.R811K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dpf.2	nonsynonymous SNV	exon21	c.G2432A	p.R811K	NIEKPSGTDPAGRDSPIQSCQDLTP	NIEKPSGTDPAGKDSPIQSCQDLTP	1.0	9.0	unscreened	-	4155_18:50985736-50985736 G>A_NIEKPSGTDPAGKDSPIQSCQDLTP
10:124608783-124608783 C>T	0.0	4155	MELANOMA	-	-	-	-	FAM24B	uc021qai.1,p.D89N|NM_152644,p.D89N|NM_001204364,p.D89N|uc001lgt.3,p.D89N|ENST00000368896,p.D89N|ENST00000368898,p.D89N	protein_coding, processed_transcript	uc021qai.1	nonsynonymous SNV	exon4	c.G265A	p.D89N	CASFDSLPPCCCDINEGL	CASFDSLPPCCCNINEGL	4.0	4.0	unscreened	-	4155_10:124608783-124608783 C>T_CASFDSLPPCCCNINEGL
1:171080091-171080091 G>A	0.0	4155	MELANOMA	-	-	-	-	FMO3	NM_001002294,p.M260I|ENST00000392085,p.M260I|uc010pmb.2,p.M240I|ENST00000367755,p.M260I|uc001ghh.3,p.M260I|NM_006894,p.M260I|uc001ghi.3,p.M260I|uc010pmc.2,p.M197I|ENST00000542847,p.M240I|ENST00000538429,p.M197I	protein_coding, processed_transcript	uc010pmc.2	nonsynonymous SNV	exon5	c.G591A	p.M197I	PTAISDWLYVKQMNARFKHENYGLM	PTAISDWLYVKQINARFKHENYGLM	3.0	2.0	unscreened	-	4155_1:171080091-171080091 G>A_PTAISDWLYVKQINARFKHENYGLM
8:108970463-108970463 C>T	0.0	4155	MELANOMA	-	-	-	1	RSPO2	uc003yms.3,p.G154E|uc003ymq.3,p.G87E|ENST00000276659,p.G154E|NM_178565,p.G154E|ENST00000521502,p.G87E|ENST00000517939,p.G87E	protein_coding	uc003yms.3	nonsynonymous SNV	exon5	c.G461A	p.G154E	VEGCEVGHWSEWGTCSRNNRTCGFK	VEGCEVGHWSEWETCSRNNRTCGFK	1.0	9.0	unscreened	-	4155_8:108970463-108970463 C>T_VEGCEVGHWSEWETCSRNNRTCGFK
8:108970463-108970463 C>T	0.0	4155	MELANOMA	-	-	-	1	RSPO2	ENST00000517781,p.G90E|uc003ymr.3,p.G90E|ENST00000378439,p.G90E|NM_001282863,p.G90E	protein_coding	uc003ymr.3	nonsynonymous SNV	exon4	c.G269A	p.G90E	CVGCEVGHWSEWGTCSRNNRTCGFK	CVGCEVGHWSEWETCSRNNRTCGFK	1.0	9.0	unscreened	-	4155_8:108970463-108970463 C>T_CVGCEVGHWSEWETCSRNNRTCGFK
3:151165736-151165736 C>T	0.0	4155	MELANOMA	-	-	-	-	IGSF10	NM_178822,p.G678E|ENST00000282466,p.G678E|uc011bod.2,p.G678E	protein_coding, processed_transcript	uc011bod.2	nonsynonymous SNV	exon4	c.G2033A	p.G678E	GQRPLEHDGETEGSGLDESNPIAHL	GQRPLEHDGETEESGLDESNPIAHL	2.0	9.0	unscreened	-	4155_3:151165736-151165736 C>T_GQRPLEHDGETEESGLDESNPIAHL
4:78532167-78532167 C>T	0.0	4155	MELANOMA	-	-	-	-	CXCL13	NM_006419,p.P102S|uc003hkr.3,p.P102S|ENST00000286758,p.P102S	retained_intron, protein_coding	uc003hkr.3	nonsynonymous SNV	exon5	c.C304T	p.P102S	VLRKRSSSTLPVPVFKRKIP	VLRKRSSSTLPVSVFKRKIP	3.0	7.0	unscreened	-	4155_4:78532167-78532167 C>T_VLRKRSSSTLPVSVFKRKIP
7:127999693-127999693 C>T	0.0	4155	MELANOMA	-	-	-	-	PRRT4	ENST00000435512,p.G118D|uc022aky.1,p.G118D|uc022akx.1,p.G118D|ENST00000495931,p.G118D|NM_001174164,p.G118D|ENST00000464607,p.G118D|ENST00000535159,p.G118D|ENST00000489517,p.G118D|ENST00000446477,p.G118D|NM_001114726,p.G118D|ENST00000489835,p.G118D	protein_coding	uc022aky.1	nonsynonymous SNV	exon3	c.G353A	p.G118D	SGNSLTEWGSTEGGSKPRASSLLPE	SGNSLTEWGSTEDGSKPRASSLLPE	1.0	9.0	unscreened	-	4155_7:127999693-127999693 C>T_SGNSLTEWGSTEDGSKPRASSLLPE
8:16001120-16001120 C>T	0.0	4155	MELANOMA	-	-	-	-	MSR1	ENST00000522672,p.G117E|ENST00000381998,p.G327E|ENST00000262101,p.G327E|uc010lsu.3,p.G345E|NM_002445,p.G327E|uc011kxz.2,p.G101E|uc003wxb.3,p.G327E|ENST00000536385,p.G101E|ENST00000445506,p.G345E|NM_138716,p.G327E|NM_138715,p.G327E|uc003wwz.3,p.G327E|ENST00000350896,p.G327E|ENST00000355282,p.G327E|uc003wxa.3,p.G327E	protein_coding, processed_transcript, nonsense_mediated_decay	uc011kxz.2	nonsynonymous SNV	exon6	c.G302A	p.G101E	GSRGLPGYAGRPGNSGPKGQKGEKG	GSRGLPGYAGRPENSGPKGQKGEKG	6.0	2.0	unscreened	-	4155_8:16001120-16001120 C>T_GSRGLPGYAGRPENSGPKGQKGEKG
17:48916971-48916971 G>A	0.0	4155	MELANOMA	-	-	-	-	WFIKKN2	uc002isv.4,p.E108K|ENST00000311378,p.E108K|ENST00000426127,p.E15K|NM_175575,p.E108K|uc010dbu.3,p.E15K	protein_coding	uc010dbu.3	nonsynonymous SNV	exon2	c.G43A	p.E15K	VKGKKGPVGMPKEATCDHFMCLQQG	VKGKKGPVGMPKKATCDHFMCLQQG	1.0	5.0	unscreened	-	4155_17:48916971-48916971 G>A_VKGKKGPVGMPKKATCDHFMCLQQG
21:27113952-27113952 G>T	0.0	4155	MELANOMA	-	-	-	-	GABPA	NM_001197297,p.D15Y|uc002yly.4,p.D15Y|ENST00000354828,p.D15Y|uc002ylx.4,p.D15Y|NM_002040,p.D15Y|ENST00000400075,p.D15Y	protein_coding, processed_transcript	uc002yly.4	nonsynonymous SNV	exon2	c.G43T	p.D15Y	KREAEELIEIEIDGTEKAECTEESI	KREAEELIEIEIYGTEKAECTEESI	3.0	9.0	unscreened	-	4155_21:27113952-27113952 G>T_KREAEELIEIEIYGTEKAECTEESI
6:81053384-81053384 G>A	1.0	4155	MELANOMA	-	-	-	-	BCKDHB	NM_000056,p.E348K|uc003pje.2,p.E348K|ENST00000320393,p.E348K|NM_183050,p.E348K|uc003pjd.2,p.E348K|ENST00000356489,p.E348K	protein_coding, processed_transcript	uc003pje.2	nonsynonymous SNV	exon10	c.G1042A	p.E348K	GFASEISSTVQEECFLNLEAPISRV	GFASEISSTVQEKCFLNLEAPISRV	5.0	7.0	-	-	4155_6:81053384-81053384 G>A_GFASEISSTVQEKCFLNLEAPISRV
1:248085221-248085221 G>A	0.0	4155	MELANOMA	-	-	ID=COSM680556;OCCURENCE=1(lung)	-	OR2T8	NM_001005522,p.R301K|uc010pzc.2,p.R301K|ENST00000319968,p.R301K	protein_coding	uc010pzc.2	nonsynonymous SNV	exon1	c.G902A	p.R301K	SVKNSEVKGALTRCMGRCVALSRE	SVKNSEVKGALTKCMGRCVALSRE	1.0	8.0	unscreened	-	4155_1:248085221-248085221 G>A_SVKNSEVKGALTKCMGRCVALSRE
6:31734412-31734412 G>A	0.0	4155	MELANOMA	-	-	-	-	VWA7	uc011dog.2,p.P671L|uc003nxd.2,p.P346L|NM_025258,p.P671L|ENST00000375688,p.P671L|ENST00000375686,p.P671L	retained_intron, protein_coding, processed_transcript	uc011dog.2	nonsynonymous SNV	exon14	c.C2012T	p.P671L	RGVPEGAELGQVPLEPVGPPERGLL	RGVPEGAELGQVLLEPVGPPERGLL	3.0	6.0	unscreened	-	4155_6:31734412-31734412 G>A_RGVPEGAELGQVLLEPVGPPERGLL
8:79710383-79710383 G>A	0.0	4155	MELANOMA	-	-	-	-	IL7	NM_001199886,p.S24L|uc003ybg.3,p.S24L|NM_001199887,p.S24L|uc022awh.1,p.S24L|ENST00000518982,p.S24L|uc022awi.1,p.S24L|uc022awj.1,p.S24L|ENST00000520269,p.S24L|ENST00000263851,p.S24L|NM_001199888,p.S24L|ENST00000379113,p.S24L|NM_000880,p.S24L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022awj.1	nonsynonymous SNV	exon2	c.C71T	p.S24L	LPPLILVLLPVASSDCDIEGKDGKQ	LPPLILVLLPVALSDCDIEGKDGKQ	2.0	6.0	unscreened	-	4155_8:79710383-79710383 G>A_LPPLILVLLPVALSDCDIEGKDGKQ
8:79710383-79710383 G>A	0.0	4155	MELANOMA	-	-	-	-	IL7	ENST00000520317,p.S24L|ENST00000520215,p.S24L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000520317	nonsynonymous SNV	exon2	c.C71T	p.S24L	LPPLILVLLPVASSDCDIEGQHERN	LPPLILVLLPVALSDCDIEGQHERN	2.0	6.0	unscreened	-	4155_8:79710383-79710383 G>A_LPPLILVLLPVALSDCDIEGQHERN
6:84350864-84350864 C>T	0.0	4155	MELANOMA	-	-	-	-	SNAP91	ENST00000521485,p.R239Q|uc003pkb.3,p.R204Q|ENST00000437520,p.R239Q|NM_001256717,p.R204Q|uc003pkc.3,p.R239Q|NM_014841,p.R239Q|uc021zcf.1,p.R239Q|ENST00000428679,p.R239Q|ENST00000439399,p.R239Q|uc011dzd.3,p.R120Q|ENST00000520213,p.R239Q|NM_001242794,p.R239Q|uc003pkd.3,p.R239Q|NM_001242793,p.R239Q|ENST00000369694,p.R239Q|uc011dze.2,p.R239Q|ENST00000521931,p.R239Q|NM_001256718,p.R120Q|ENST00000195649,p.R239Q|NM_001242792,p.R239Q|ENST00000520302,p.R239Q|uc003pka.3,p.R239Q|ENST00000521743,p.R239Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zcf.1	nonsynonymous SNV	exon7	c.G716A	p.R239Q	KGQCKDALEIYKRFLTRMTRVSEFL	KGQCKDALEIYKQFLTRMTRVSEFL	1.0	4.0	unscreened	-	4155_6:84350864-84350864 C>T_KGQCKDALEIYKQFLTRMTRVSEFL
1:1139171-1139171 G>A	0.0	4155	MELANOMA	-	-	-	-	TNFRSF18	NM_148901,p.P190S|uc001add.3,p.P190S|ENST00000328596,p.P190S	protein_coding	uc001add.3	nonsynonymous SNV	exon4	c.C568T	p.P190S	GPPTAASPSPGAPQAAGALRSALGR	GPPTAASPSPGASQAAGALRSALGR	4.0	2.0	unscreened	-	4155_1:1139171-1139171 G>A_GPPTAASPSPGASQAAGALRSALGR
3:130286970-130286970 G>A	0.0	4155	MELANOMA	-	-	-	-	COL6A6	NM_001102608,p.M641I|ENST00000453409,p.M641I|uc010htl.3,p.M641I|ENST00000358511,p.M641I	protein_coding, nonsense_mediated_decay	uc010htl.3	nonsynonymous SNV	exon5	c.G1923A	p.M641I	SSGSIGPENFSKMKTFMKNLVSKSQ	SSGSIGPENFSKIKTFMKNLVSKSQ	1.0	3.0	unscreened	-	4155_3:130286970-130286970 G>A_SSGSIGPENFSKIKTFMKNLVSKSQ
1:176863844-176863844 C>T	0.0	4155	MELANOMA	-	-	-	-	ASTN1	ENST00000361833,p.E932K|ENST00000367657,p.E932K|NM_004319,p.E932K|NM_001286164,p.E932K|NM_207108,p.E932K|ENST00000424564,p.E932K|uc001glc.3,p.E932K|uc001glb.1,p.E932K|uc001gld.1,p.E932K|ENST00000367654,p.E940K	protein_coding, processed_transcript	uc001gld.1	nonsynonymous SNV	exon17	c.G2794A	p.E932K	SGTKHMAAGVRMECHSKGRCPSSCP	SGTKHMAAGVRMKCHSKGRCPSSCP	1.0	2.0	unscreened	-	4155_1:176863844-176863844 C>T_SGTKHMAAGVRMKCHSKGRCPSSCP
19:8161831-8161831 T>G	0.0	4155	MELANOMA	-	-	-	-	FBN3	NM_032447,p.I1783L|uc002mjf.3,p.I1783L|ENST00000600128,p.I1783L|ENST00000270509,p.I1783L|ENST00000601739,p.I1783L	retained_intron, protein_coding	uc002mjf.3	nonsynonymous SNV	exon42	c.A5347C	p.I1783L	ESPCQQNADCINIPGSYRCKCTRGY	ESPCQQNADCINLPGSYRCKCTRGY	1.0	2.0	unscreened	-	4155_19:8161831-8161831 T>G_ESPCQQNADCINLPGSYRCKCTRGY
3:52812378-52812378 G>A	0.0	4155	MELANOMA	0.0005	-	-	-	ITIH1	uc003dfs.3,p.R54Q|ENST00000542827,p.R54Q|ENST00000480409,p.R54Q|ENST00000273283,p.R54Q|NM_002215,p.R54Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003dfs.3	nonsynonymous SNV	exon3	c.G161A	p.R54Q	QAVDTAVDGVFIRSLKVNCKVTSRF	QAVDTAVDGVFIQSLKVNCKVTSRF	1.0	4.0	unscreened	-	4155_3:52812378-52812378 G>A_QAVDTAVDGVFIQSLKVNCKVTSRF
11:113283461-113283461 G>A	0.0	4155	MELANOMA	-	-	-	-	DRD2	NM_016574,p.P290S|uc001pnz.3,p.P319S|NM_000795,p.P319S|uc001pob.4,p.P290S|uc010rwv.2,p.P318S|ENST00000538967,p.P321S|ENST00000355319,p.P321S|ENST00000346454,p.P290S|ENST00000544518,p.P318S|ENST00000542968,p.P319S|ENST00000362072,p.P319S|uc001poa.4,p.P319S	retained_intron, protein_coding, processed_transcript	uc010rwv.2	nonsynonymous SNV	exon6	c.C952T	p.P318S	LPDPSHHGLHSTPDSPAKPEKNGHA	LPDPSHHGLHSTSDSPAKPEKNGHA	1.0	9.0	unscreened	-	4155_11:113283461-113283461 G>A_LPDPSHHGLHSTSDSPAKPEKNGHA
4:155256029-155256029 C>T	0.0	4155	MELANOMA	-	-	-	-	DCHS2	NM_017639,p.E403K|ENST00000339452,p.E902K|uc003inx.2,p.E902K|uc003inw.2,p.E403K|NM_001142552,p.E902K|ENST00000357232,p.E403K	protein_coding, processed_transcript	uc003inx.2	nonsynonymous SNV	exon4	c.G2704A	p.E902K	PEDSPIGTVKAREPLNSSEPIFYRI	PEDSPIGTVKARKPLNSSEPIFYRI	1.0	8.0	unscreened	-	4155_4:155256029-155256029 C>T_PEDSPIGTVKARKPLNSSEPIFYRI
7:127999694-127999694 C>T	0.0	4155	MELANOMA	-	-	-	-	PRRT4	ENST00000464607,p.G118S|uc022akx.1,p.G118S|uc022aky.1,p.G118S|ENST00000489835,p.G118S|ENST00000435512,p.G118S|ENST00000446477,p.G118S|ENST00000495931,p.G118S|NM_001114726,p.G118S|NM_001174164,p.G118S|ENST00000489517,p.G118S|ENST00000535159,p.G118S	protein_coding	uc022aky.1	nonsynonymous SNV	exon3	c.G352A	p.G118S	SGNSLTEWGSTEGGSKPRASSLLPE	SGNSLTEWGSTESGSKPRASSLLPE	1.0	9.0	unscreened	-	4155_7:127999694-127999694 C>T_SGNSLTEWGSTESGSKPRASSLLPE
8:2823456-2823456 C>T	0.0	4155	MELANOMA	-	-	-	-	CSMD1	NM_033225,p.G3041S|uc011kwj.2,p.G2371S|ENST00000520002,p.G3042S|ENST00000602557,p.G3042S|uc022aqr.1,p.G3041S|ENST00000537824,p.G3041S	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon59	c.G9121A	p.G3041S	APDCTIISCGDPGTLANGIQFGTDF	APDCTIISCGDPSTLANGIQFGTDF	1.0	8.0	unscreened	-	4155_8:2823456-2823456 C>T_APDCTIISCGDPSTLANGIQFGTDF
6:161152258-161152258 G>A	0.0	4155	MELANOMA	-	-	-	-	PLG	NM_000301,p.E478K|ENST00000308192,p.E478K|uc003qtm.4,p.E478K	retained_intron, protein_coding, processed_transcript	uc003qtm.4	nonsynonymous SNV	exon11	c.G1432A	p.E478K	PVVLLPDVETPSEEDCMFGNGKGYR	PVVLLPDVETPSKEDCMFGNGKGYR	1.0	2.0	unscreened	-	4155_6:161152258-161152258 G>A_PVVLLPDVETPSKEDCMFGNGKGYR
4:80328367-80328367 G>A	0.0	4155	MELANOMA	-	-	-	-	GK2	NM_033214,p.R330C|ENST00000358842,p.R330C|uc003hlu.3,p.R330C	protein_coding	uc003hlu.3	nonsynonymous SNV	exon1	c.C988T	p.R330C	LEGSVAIAGAVIRWLRDNLGIIETS	LEGSVAIAGAVICWLRDNLGIIETS	1.0	3.0	unscreened	-	4155_4:80328367-80328367 G>A_LEGSVAIAGAVICWLRDNLGIIETS
15:65489259-65489259 C>T	0.0	4155	MELANOMA	-	-	-	-	CILP	NM_003613,p.R1122K|uc002aon.2,p.R1122K|ENST00000261883,p.R1122K	protein_coding	uc002aon.2	nonsynonymous SNV	exon9	c.G3365A	p.R1122K	NVGVALTFNCVERQVGRQSAFQYLQ	NVGVALTFNCVEKQVGRQSAFQYLQ	5.0	3.0	unscreened	-	4155_15:65489259-65489259 C>T_NVGVALTFNCVEKQVGRQSAFQYLQ
18:42530689-42530689 C>T	0.0	4155	MELANOMA	-	-	ID=COSM1711237;OCCURENCE=1(skin)	1	SETBP1	NM_015559,p.P462S|uc010dni.3,p.P462S|ENST00000282030,p.P462S	protein_coding	uc010dni.3	nonsynonymous SNV	exon4	c.C1384T	p.P462S	RILSNSEGNKKDPRVPKLSKMIENE	RILSNSEGNKKDSRVPKLSKMIENE	3.0	2.0	unscreened	-	4155_18:42530689-42530689 C>T_RILSNSEGNKKDSRVPKLSKMIENE
3:38768474-38768474 C>T	0.0	4155	MELANOMA	-	-	-	-	SCN10A	NM_001293307,p.D806N|uc003ciq.3,p.D904N|NM_001293306,p.D904N|NM_006514,p.D904N|ENST00000449082,p.D904N	protein_coding	uc003ciq.3	nonsynonymous SNV	exon16	c.G2710A	p.D904N	SFSADNLTAPEDDGEVNNLQVALAR	SFSADNLTAPEDNGEVNNLQVALAR	1.0	2.0	unscreened	-	4155_3:38768474-38768474 C>T_SFSADNLTAPEDNGEVNNLQVALAR
4:48486110-48486110 C>T	0.0	4155	MELANOMA	-	-	-	-	SLC10A4	uc003gyc.2,p.P178S|NM_152679,p.P178S|ENST00000273861,p.P178S	protein_coding	uc003gyc.2	nonsynonymous SNV	exon1	c.C532T	p.P178S	VAAVAVLLCGCCPGGNLSNLMSLLV	VAAVAVLLCGCCSGGNLSNLMSLLV	1.0	4.0	unscreened	-	4155_4:48486110-48486110 C>T_VAAVAVLLCGCCSGGNLSNLMSLLV
16:51171098-51171098 C>T	0.0	4155	MELANOMA	-	-	-	-	SALL1	ENST00000541611,p.M123I|ENST00000251020,p.M1300I|uc010cbv.3,p.M152I|NM_001127892,p.M1203I|NM_002968,p.M1300I|uc021tif.1,p.M1203I|ENST00000440970,p.M1203I	protein_coding, processed_transcript	uc021tif.1	nonsynonymous SNV	exon3	c.G3609A	p.M1203I	SEPNAPLAGLEKMASSENGTNFRFT	SEPNAPLAGLEKIASSENGTNFRFT	2.0	2.0	unscreened	-	4155_16:51171098-51171098 C>T_SEPNAPLAGLEKIASSENGTNFRFT
17:46846497-46846497 C>T	0.0	4155	MELANOMA	-	-	-	-	TTLL6	NM_173623,p.D537N|uc002ioc.3,p.D597N|ENST00000393382,p.D844N|ENST00000433608,p.D537N|NM_001130918,p.D844N|uc021tzm.1,p.D844N|uc002iob.3,p.D537N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tzm.1	nonsynonymous SNV	exon15	c.G2530A	p.D844N	LQSPQSYNVTLRDLLVIATPAQLDP	LQSPQSYNVTLRNLLVIATPAQLDP	1.0	6.0	unscreened	-	4155_17:46846497-46846497 C>T_LQSPQSYNVTLRNLLVIATPAQLDP
2:158300366-158300366 C>T	0.0	4155	MELANOMA	-	-	ID=COSM1691178;OCCURENCE=1(skin)	-	CYTIP	uc002tzj.1,p.R56Q|NM_004288,p.R56Q|ENST00000439355,p.R21Q|ENST00000435117,p.R21Q|ENST00000264192,p.R56Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tzj.1	nonsynonymous SNV	exon1	c.G167A	p.R56Q	MLADTVATLPRGRKQLALTRSSSLS	MLADTVATLPRGQKQLALTRSSSLS	2.0	2.0	unscreened	-	4155_2:158300366-158300366 C>T_MLADTVATLPRGQKQLALTRSSSLS
4:115773958-115773958 C>T	0.0	4155	MELANOMA	-	-	-	-	NDST4	ENST00000504854,p.R201Q|NM_022569,p.R580Q|uc003ibu.3,p.R580Q|ENST00000264363,p.R580Q	retained_intron, protein_coding, nonsense_mediated_decay	uc003ibu.3	nonsynonymous SNV	exon8	c.G1739A	p.R580Q	KDPLWQNPCDDKRHKDIWSREKTCD	KDPLWQNPCDDKQHKDIWSREKTCD	1.0	8.0	unscreened	-	4155_4:115773958-115773958 C>T_KDPLWQNPCDDKQHKDIWSREKTCD
2:29462683-29462683 C>T	0.0	4155	MELANOMA	-	-	-	1	ALK	NM_004304,p.G740R|ENST00000389048,p.G740R|uc002rmy.3,p.G740R	protein_coding, processed_transcript	uc002rmy.3	nonsynonymous SNV	exon13	c.G2218A	p.G740R	VPATDTYSISGYGAAGGKGGKNTMM	VPATDTYSISGYRAAGGKGGKNTMM	5.0	4.0	unscreened	-	4155_2:29462683-29462683 C>T_VPATDTYSISGYRAAGGKGGKNTMM
17:53798350-53798350 C>T	0.0	4155	MELANOMA	-	-	-	-	TMEM100	NM_001099640,p.E28K|NM_018286,p.E28K|uc002iuk.4,p.E28K|ENST00000575734,p.E28K|ENST00000571679,p.E28K|uc021uai.1,p.E28K|uc002iuj.4,p.E28K|ENST00000424486,p.E28K	retained_intron, protein_coding, processed_transcript	uc021uai.1	nonsynonymous SNV	exon1	c.G82A	p.E28K	HMAATMEKSPKSEVVITTVPLVSEI	HMAATMEKSPKSKVVITTVPLVSEI	1.0	6.0	unscreened	-	4155_17:53798350-53798350 C>T_HMAATMEKSPKSKVVITTVPLVSEI
19:49656868-49656868 C>T	0.0	4155	MELANOMA	-	-	-	-	HRC	ENST00000595625,p.E543K|uc002pmv.3,p.E543K|ENST00000252825,p.E543K|NM_002152,p.E543K	retained_intron, protein_coding	uc002pmv.3	nonsynonymous SNV	exon1	c.G1627A	p.E543K	NQEEEEEEDKEEEEEEEDEERREER	NQEEEEEEDKEEKEEEEDEERREER	5.0	2.0	unscreened	-	4155_19:49656868-49656868 C>T_NQEEEEEEDKEEKEEEEDEERREER
6:96054138-96054138 C>T	0.0	4155	MELANOMA	-	-	-	-	MANEA	ENST00000358812,p.P416S|uc003poo.2,p.P416S|NM_024641,p.P416S	protein_coding, processed_transcript	uc003poo.2	nonsynonymous SNV	exon5	c.C1246T	p.P416S	EWHEGTQIEKAVPKRTSNTVYLDYR	EWHEGTQIEKAVSKRTSNTVYLDYR	3.0	4.0	unscreened	-	4155_6:96054138-96054138 C>T_EWHEGTQIEKAVSKRTSNTVYLDYR
12:81688715-81688715 C>T	0.0	4155	MELANOMA	-	-	-	-	PPFIA2	ENST00000333447,p.E927K|ENST00000548586,p.E942K|NM_001220475,p.E942K|NM_001220473,p.E942K|uc031qix.1,p.E942K|uc031qij.1,p.E159K|ENST00000443686,p.E843K|uc031qim.1,p.E942K|NM_001220477,p.E868K|ENST00000541017,p.E159K|uc031qik.1,p.E868K|NM_001220479,p.E509K|ENST00000552948,p.E942K|uc031qis.1,p.E942K|uc031qit.1,p.E159K|NM_001282536,p.E789K|NM_001220476,p.E942K|uc031qin.1,p.E927K|NM_001220478,p.E843K|ENST00000550584,p.E942K|ENST00000407050,p.E868K|NM_003625,p.E942K|ENST00000549396,p.E942K|uc031qiv.1,p.E843K|uc031qil.1,p.E843K|uc031qiw.1,p.E942K|uc031qih.1,p.E509K|NM_001220480,p.E159K|NM_001220474,p.E927K|uc031qio.1,p.E942K|uc031qir.1,p.E942K|uc031qii.1,p.E509K|ENST00000541570,p.E509K|uc031qiy.1,p.E942K|uc031qip.1,p.E942K|ENST00000550359,p.E789K|ENST00000549325,p.E927K|uc031qiu.1,p.E868K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qiy.1	nonsynonymous SNV	exon22	c.G2824A	p.E942K	IMSALSDTEIQREIGISNPLHRLKL	IMSALSDTEIQRKIGISNPLHRLKL	4.0	6.0	unscreened	-	4155_12:81688715-81688715 C>T_IMSALSDTEIQRKIGISNPLHRLKL
19:56424615-56424615 C>T	0.0	4155	MELANOMA	-	-	-	-	NLRP13	ENST00000342929,p.E190K|ENST00000588751,p.E190K|NM_176810,p.E190K|uc010ygg.2,p.E190K	protein_coding	uc010ygg.2	nonsynonymous SNV	exon5	c.G568A	p.E190K	RKYRENMKAELLETWDNISWPKDHV	RKYRENMKAELLKTWDNISWPKDHV	1.0	5.0	unscreened	-	4155_19:56424615-56424615 C>T_RKYRENMKAELLKTWDNISWPKDHV
1:151315844-151315844 G>A	1.0	4155	MELANOMA	-	-	-	-	RFX5	ENST00000368870,p.H278Y|ENST00000290524,p.H278Y|NM_000449,p.H278Y|ENST00000452671,p.H278Y|ENST00000436637,p.H170Y|ENST00000392746,p.H278Y|ENST00000452513,p.H238Y|uc001exv.1,p.H278Y|uc010pcx.1,p.H238Y|uc001exw.1,p.H278Y|NM_001025603,p.H278Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010pcx.1	nonsynonymous SNV	exon9	c.C712T	p.H238Y	PKNGLENPEGGAHKKPERLAQPPKD	PKNGLENPEGGAYKKPERLAQPPKD	7.0	4.0	-	-	4155_1:151315844-151315844 G>A_PKNGLENPEGGAYKKPERLAQPPKD
4:676629-676629 C>T	0.0	4155	MELANOMA	-	-	ID=COSM1310200;OCCURENCE=1(urinary_tract)	-	MFSD7	NM_032219,p.R401Q|uc003gay.3,p.R402Q|NM_001294342,p.R283Q|uc003gax.3,p.R401Q|ENST00000347950,p.R283Q|ENST00000404286,p.R402Q|ENST00000503156,p.R337Q|NM_001294341,p.R402Q|ENST00000515118,p.R305Q|ENST00000322224,p.R401Q|uc003gaz.3,p.R283Q|uc003gaw.3,p.R144Q	retained_intron, protein_coding, processed_transcript	uc003gaz.3	nonsynonymous SNV	exon7	c.G848A	p.R283Q	ILIMLAMTALTVRRSEPSLSTCQQG	ILIMLAMTALTVQRSEPSLSTCQQG	4.0	8.0	unscreened	-	4155_4:676629-676629 C>T_ILIMLAMTALTVQRSEPSLSTCQQG
4:115997574-115997574 C>T	0.0	4155	MELANOMA	-	-	-	-	NDST4	uc003ibu.3,p.A207T|ENST00000264363,p.A207T|NM_022569,p.A207T	retained_intron, protein_coding, nonsense_mediated_decay	uc003ibu.3	nonsynonymous SNV	exon2	c.G619A	p.A207T	VNPQSPLLHITKAPKVEKGPLPGED	VNPQSPLLHITKTPKVEKGPLPGED	1.0	7.0	unscreened	-	4155_4:115997574-115997574 C>T_VNPQSPLLHITKTPKVEKGPLPGED
16:20635471-20635471 C>T	0.0	4155	MELANOMA	-	-	-	-	ACSM1	ENST00000520010,p.E532K|uc010bwg.1,p.E532K|ENST00000219151,p.E183K|uc002dhm.1,p.E532K|NM_052956,p.E532K|ENST00000307493,p.E532K	retained_intron, protein_coding, nonsense_mediated_decay	uc010bwg.1	nonsynonymous SNV	exon13	c.G1594A	p.E532K	QFLSHDKDQLTKELQQHVKSVTAPY	QFLSHDKDQLTKKLQQHVKSVTAPY	1.0	4.0	unscreened	-	4155_16:20635471-20635471 C>T_QFLSHDKDQLTKKLQQHVKSVTAPY
2:186661290-186661290 G>A	0.0	4155	MELANOMA	-	-	-	-	FSIP2	NM_173651,p.E3232K|ENST00000343098,p.E3232K|uc002upl.3,p.E3232K|ENST00000424728,p.E3143K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon16	c.G9694A	p.E3232K	YFNESLIQNLSRESLFQGAENAYTV	YFNESLIQNLSRKSLFQGAENAYTV	3.0	8.0	unscreened	-	4155_2:186661290-186661290 G>A_YFNESLIQNLSRKSLFQGAENAYTV
19:11596534-11596534 G>A	1.0	4155	MELANOMA	-	-	-	-	ZNF653	ENST00000293771,p.P503S|NM_138783,p.P503S|uc002mrz.2,p.P503S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mrz.2	nonsynonymous SNV	exon7	c.C1507T	p.P503S	VHRKGKTKVCPHPGCGKKFYLSNHL	VHRKGKTKVCPHSGCGKKFYLSNHL	8.0	6.0	-	-	4155_19:11596534-11596534 G>A_VHRKGKTKVCPHSGCGKKFYLSNHL
2:158300366-158300366 C>T	0.0	4155	MELANOMA	-	-	ID=COSM1691178;OCCURENCE=1(skin)	-	CYTIP	ENST00000457793,p.R56Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000457793	nonsynonymous SNV	exon1	c.G167A	p.R56Q	MLADTVATLPRGRKQNDF	MLADTVATLPRGQKQNDF	2.0	2.0	unscreened	-	4155_2:158300366-158300366 C>T_MLADTVATLPRGQKQNDF
1:240964794-240964794 C>T	0.0	4155	MELANOMA	-	-	-	2	RGS7	ENST00000366565,p.M458I|ENST00000440928,p.M289I|NM_002924,p.M458I|uc001hyt.2,p.M290I|ENST00000407727,p.M458I|uc001hyv.2,p.M458I	protein_coding	uc001hyv.2	nonsynonymous SNV	exon17	c.G1374A	p.M458I	ELLQAKKKSGNSMDRRTSFEKFAQN	ELLQAKKKSGNSIDRRTSFEKFAQN	1.0	8.0	unscreened	-	4155_1:240964794-240964794 C>T_ELLQAKKKSGNSIDRRTSFEKFAQN
11:126316761-126316761 C>T	0.0	4155	MELANOMA	-	-	-	-	KIRREL3	ENST00000525144,p.E340K|NM_032531,p.E340K|uc001qec.1,p.E340K|ENST00000525704,p.E340K|uc001qeb.3,p.E340K|NM_001161707,p.E340K|uc001qea.3,p.E340K|NM_001301097,p.E340K|ENST00000529097,p.E340K	retained_intron, protein_coding, processed_transcript	uc001qec.1	nonsynonymous SNV	exon9	c.G1018A	p.E340K	TVDVYFGPRMTTEPQSLLVDLGSDA	TVDVYFGPRMTTKPQSLLVDLGSDA	2.0	4.0	unscreened	-	4155_11:126316761-126316761 C>T_TVDVYFGPRMTTKPQSLLVDLGSDA
19:52001512-52001512 G>T	0.0	4155	MELANOMA	-	-	-	-	SIGLEC12	uc010eoy.1,p.L116I|NM_033329,p.L271I|NM_053003,p.L389I|uc002pwx.1,p.L389I|ENST00000598614,p.L271I|uc002pww.1,p.L271I|ENST00000291707,p.L389I	protein_coding, nonsense_mediated_decay	uc010eoy.1	nonsynonymous SNV	exon5	c.C346A	p.L116I	GTASTTLRNGSALSVLEGQSLHLVC	GTASTTLRNGSAISVLEGQSLHLVC	1.0	5.0	unscreened	-	4155_19:52001512-52001512 G>T_GTASTTLRNGSAISVLEGQSLHLVC
13:52439824-52439824 G>A	0.0	4155	MELANOMA	-	-	-	-	CCDC70	uc021rjv.1,p.E104K|ENST00000242819,p.E104K|uc001vfu.4,p.E104K|NM_031290,p.E104K	protein_coding	uc021rjv.1	nonsynonymous SNV	exon1	c.G310A	p.E104K	PFWEEEKTFWKEEKSFWEMEKSFRE	PFWEEEKTFWKEKKSFWEMEKSFRE	1.0	3.0	unscreened	-	4155_13:52439824-52439824 G>A_PFWEEEKTFWKEKKSFWEMEKSFRE
12:70330346-70330346 G>A	0.0	4155	MELANOMA	-	-	-	-	RAB3IP,LINC01481	ENST00000552032,p.E720K|ENST00000299350,p.E85K|uc001svu.1,p.E85K|ENST00000535034,p.E85K|ENST00000547771,p.E709K|uc010stn.1,p.E85K	protein_coding, nonsense_mediated_decay	uc010stn.1	nonsynonymous SNV	exon4	c.G253A	p.E85K	QETYCCPIRGMKEVSSSPVQRQSEE	QETYCCPIRGMKKVSSSPVQRQSEE	2.0	2.0	unscreened	-	4155_12:70330346-70330346 G>A_QETYCCPIRGMKKVSSSPVQRQSEE
15:91769653-91769653 C>T	0.0	4155	MELANOMA	-	-	-	-	SV2B	ENST00000557410,p.P54S|uc002bqt.3,p.P54S|ENST00000330276,p.P54S|uc002bqv.3,p.P54S|ENST00000394232,p.P54S|NM_014848,p.P54S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bqv.3	nonsynonymous SNV	exon3	c.C160T	p.P54S	EDEIYEGEYQGIPHPDDVKAKQAKM	EDEIYEGEYQGISHPDDVKAKQAKM	1.0	8.0	unscreened	-	4155_15:91769653-91769653 C>T_EDEIYEGEYQGISHPDDVKAKQAKM
15:91769779-91769779 G>A	0.0	4155	MELANOMA	-	-	-	-	SV2B	uc002bqv.3,p.E96K|ENST00000394232,p.E96K|NM_014848,p.E96K|ENST00000330276,p.E96K|ENST00000557410,p.E96K|uc002bqt.3,p.E96K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bqv.3	nonsynonymous SNV	exon3	c.G286A	p.E96K	RLEDEEQLAHQYETIMDECGHGRFQ	RLEDEEQLAHQYKTIMDECGHGRFQ	1.0	5.0	unscreened	-	4155_15:91769779-91769779 G>A_RLEDEEQLAHQYKTIMDECGHGRFQ
2:152385747-152385747 C>T	0.0	4155	MELANOMA	-	-	-	-	NEB	uc002txt.4,p.D42N|ENST00000413693,p.D1968N|uc021vrd.1,p.D5537N|ENST00000172853,p.D5537N|uc002txu.3,p.D7238N|ENST00000427231,p.D7238N|ENST00000397345,p.D7238N|uc021vrb.1,p.D5537N|uc031rpp.1,p.D7273N|uc002txr.3,p.D2003N|NM_001271208,p.D7273N|ENST00000603639,p.D7238N|NM_001164507,p.D7238N|uc021vrc.1,p.D7238N|ENST00000409198,p.D5537N|NM_001164508,p.D7238N|ENST00000604864,p.D7238N	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon147	c.G21817A	p.D7273N	IEPDAVHIKAAKDAYKVNTNLDYKK	IEPDAVHIKAAKNAYKVNTNLDYKK	4.0	6.0	unscreened	-	4155_2:152385747-152385747 C>T_IEPDAVHIKAAKNAYKVNTNLDYKK
21:15538721-15538721 C>T	0.0	4155	MELANOMA	-	-	ID=COSM117483;OCCURENCE=1(lung),1(skin),1(ovary)	-	LIPI	uc021whi.1,p.G67E|ENST00000536861,p.G232E|uc002yjm.3,p.G253E|ENST00000344577,p.G253E|uc021whh.1,p.G232E|uc021whf.1,p.G232E|uc021whj.1,p.G232E|NM_198996,p.G253E|uc021whe.1,p.G232E	protein_coding	uc021whj.1	nonsynonymous SNV	exon5	c.G695A	p.G232E	EPLGHIDFYPNGGNKQPGCPKSIFS	EPLGHIDFYPNGENKQPGCPKSIFS	1.0	2.0	unscreened	-	4155_21:15538721-15538721 C>T_EPLGHIDFYPNGENKQPGCPKSIFS
6:63990487-63990487 C>T	0.0	4155	MELANOMA	-	-	ID=COSM1697473;OCCURENCE=2(NS),2(skin)	-	LGSN	uc003pei.3,p.G183E|ENST00000370658,p.G183E|NM_001143940,p.G183E	protein_coding, nonsense_mediated_decay	uc003pei.3	nonsynonymous SNV	exon5	c.G548A	p.G183E	DTFTVTVSGMSIGRKTCSAALLELS	DTFTVTVSGMSIERKTCSAALLELS	1.0	3.0	unscreened	-	4155_6:63990487-63990487 C>T_DTFTVTVSGMSIERKTCSAALLELS
6:70071131-70071131 G>A	0.0	4155	MELANOMA	-	-	-	-	BAI3	ENST00000370598,p.M1322I|uc003pev.4,p.M1322I|ENST00000546190,p.M286I|uc010kak.3,p.M1322I|NM_001704,p.M1322I|uc011dxx.2,p.M528I|ENST00000238918,p.M528I	protein_coding	uc011dxx.2	nonsynonymous SNV	exon13	c.G1584A	p.M528I	VMPRSSVNNQPSMKEESKMNIGMET	VMPRSSVNNQPSIKEESKMNIGMET	1.0	8.0	unscreened	-	4155_6:70071131-70071131 G>A_VMPRSSVNNQPSIKEESKMNIGMET
1:165175235-165175235 C>T	0.0	4155	MELANOMA	-	-	-	-	LMX1A	ENST00000342310,p.G285E|NM_001174069,p.G285E|NM_177398,p.G285E|ENST00000367893,p.G285E|uc001gcz.2,p.G285E|uc021pdz.1,p.G285E|ENST00000294816,p.G285E|uc021pdy.1,p.G36E	protein_coding, processed_transcript	uc021pdz.1	nonsynonymous SNV	exon8	c.G854A	p.G285E	AQTNGGGSAGMEGIMNPYTALPTPQ	AQTNGGGSAGMEEIMNPYTALPTPQ	1.0	5.0	unscreened	-	4155_1:165175235-165175235 C>T_AQTNGGGSAGMEEIMNPYTALPTPQ
1:92447204-92447204 G>A	0.0	4155	MELANOMA	-	-	-	-	BRDT	uc001dol.4,p.E632K|NM_001242810,p.E559K|NM_001242807,p.E586K|NM_207189,p.E632K|NM_001242806,p.E636K|NM_001242805,p.E632K|uc010osz.2,p.E636K|ENST00000394530,p.E586K|ENST00000362005,p.E632K|ENST00000399546,p.E632K|uc001dok.4,p.E632K|ENST00000402388,p.E632K|NM_001242808,p.E586K|uc009wdf.3,p.E559K|uc010otb.2,p.E586K|uc001dom.4,p.E632K|uc010ota.2,p.E586K|ENST00000370389,p.E559K|NM_001726,p.E632K	protein_coding, processed_transcript	uc010otb.2	nonsynonymous SNV	exon11	c.G1756A	p.E586K	TKSDKTQPSKAVENVSRLSESSSSS	TKSDKTQPSKAVKNVSRLSESSSSS	1.0	8.0	unscreened	-	4155_1:92447204-92447204 G>A_TKSDKTQPSKAVKNVSRLSESSSSS
1:9017294-9017294 G>A	0.0	4155	MELANOMA	-	-	-	-	CA6	uc031plc.1,p.E120K|ENST00000377442,p.E60K|ENST00000549778,p.E88K|ENST00000377443,p.E120K|uc001apm.4,p.E120K|uc009vmn.4,p.E60K|NM_001270501,p.E60K|NM_001215,p.E120K|ENST00000377436,p.E120K|NM_001270500,p.E120K	protein_coding, processed_transcript, nonsense_mediated_decay	uc031plc.1	nonsynonymous SNV	exon3	c.G358A	p.E120K	QQMHFHWGGASSEISGSEHTVDGIR	QQMHFHWGGASSKISGSEHTVDGIR	1.0	7.0	unscreened	-	4155_1:9017294-9017294 G>A_QQMHFHWGGASSKISGSEHTVDGIR
17:12666413-12666413 G>A	0.0	4155	MELANOMA	-	-	-	-	MYOCD	uc002gnn.2,p.D757N|ENST00000443061,p.D467N|NM_153604,p.D757N|ENST00000425538,p.D805N|uc002gno.2,p.D805N|uc002gnq.2,p.D481N|NM_001146312,p.D805N|ENST00000343344,p.D757N	protein_coding, nonsense_mediated_decay	uc002gnq.2	nonsynonymous SNV	exon6	c.G1441A	p.D481N	IESGEMPADAREDHSCLQKVPKIPR	IESGEMPADARENHSCLQKVPKIPR	1.0	6.0	unscreened	-	4155_17:12666413-12666413 G>A_IESGEMPADARENHSCLQKVPKIPR
18:59221488-59221488 G>A	0.0	4155	MELANOMA	-	-	-	-	CDH20	uc002lif.2,p.E650K|NM_031891,p.E656K|ENST00000262717,p.E656K|ENST00000538374,p.E656K|ENST00000536675,p.E656K|uc010dps.1,p.E656K|ENST00000587582,p.E53K	protein_coding	uc010dps.1	nonsynonymous SNV	exon11	c.G1966A	p.E656K	RHRKQPYIIDDEENIHENIVRYDDE	RHRKQPYIIDDEKNIHENIVRYDDE	1.0	3.0	unscreened	-	4155_18:59221488-59221488 G>A_RHRKQPYIIDDEKNIHENIVRYDDE
8:145058960-145058960 C>A	1.0	4155	MELANOMA	-	-	-	-	PARP10	ENST00000527262,p.A404S|ENST00000313028,p.A404S|ENST00000525773,p.A416S|uc003zak.4,p.A110S|uc003zal.4,p.A404S|ENST00000313059,p.A319S|uc010mfn.1,p.A319S|ENST00000524918,p.A404S|uc003zam.2,p.A404S|uc011lku.2,p.A416S|NM_032789,p.A404S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lku.2	nonsynonymous SNV	exon4	c.G1246T	p.A416S	KGLLGQEGLVEIAMDSPEQEGLVGP	KGLLGQEGLVEISMDSPEQEGLVGP	9.0	3.0	-	-	4155_8:145058960-145058960 C>A_KGLLGQEGLVEISMDSPEQEGLVGP
1:176708775-176708775 G>A	0.0	4155	MELANOMA	-	-	-	-	PAPPA2	NM_020318,p.R1271K|uc001gkz.3,p.R1271K|ENST00000367662,p.R1271K	protein_coding, processed_transcript	uc001gkz.3	nonsynonymous SNV	exon13	c.G3812A	p.R1271K	KEDEVWLKVCFNRPGEARAIFIFLT	KEDEVWLKVCFNKPGEARAIFIFLT	1.0	7.0	unscreened	-	4155_1:176708775-176708775 G>A_KEDEVWLKVCFNKPGEARAIFIFLT
2:27726394-27726394 G>A	0.0	4155	MELANOMA	-	-	-	-	GCKR	uc010ezd.3,p.E220K|ENST00000424318,p.E30K|uc002rky.3,p.E220K|ENST00000264717,p.E220K|NM_001486,p.E220K|uc010ylu.2,p.E30K	retained_intron, protein_coding, nonsense_mediated_decay	uc010ylu.2	nonsynonymous SNV	exon8	c.G88A	p.E30K	FNPVSMARNDPIEDWSSTFRQVAER	FNPVSMARNDPIKDWSSTFRQVAER	1.0	3.0	unscreened	-	4155_2:27726394-27726394 G>A_FNPVSMARNDPIKDWSSTFRQVAER
8:101271232-101271232 C>T	0.0	4155	MELANOMA	-	-	-	-	RNF19A	NM_015435,p.R690K|uc003yjk.2,p.R690K|uc003yjj.1,p.R690K|NM_001280539,p.R690K|ENST00000341084,p.R690K|ENST00000519449,p.R690K|NM_183419,p.R690K	retained_intron, protein_coding, processed_transcript	uc003yjk.2	nonsynonymous SNV	exon10	c.G2069A	p.R690K	LRKKGNMKINETREDMDAQLLEQQS	LRKKGNMKINETKEDMDAQLLEQQS	8.0	5.0	unscreened	-	4155_8:101271232-101271232 C>T_LRKKGNMKINETKEDMDAQLLEQQS
16:28508101-28508101 G>A	0.0	4155	MELANOMA	-	-	-	-	APOBR	uc002dqb.2,p.R580K|ENST00000328423,p.R571K|ENST00000431282,p.R571K|ENST00000564831,p.R580K|uc010byg.2,p.R109K|NM_018690,p.R580K	protein_coding	uc010byg.2	nonsynonymous SNV	exon3	c.G326A	p.R109K	GGAQTPTKQPEEREAGEVELMGVLA	GGAQTPTKQPEEKEAGEVELMGVLA	4.0	7.0	unscreened	-	4155_16:28508101-28508101 G>A_GGAQTPTKQPEEKEAGEVELMGVLA
10:59956144-59956144 G>A	0.0	4155	MELANOMA	-	-	-	-	IPMK	uc001jkb.3,p.S315F|ENST00000373935,p.S315F|NM_152230,p.S315F	protein_coding	uc001jkb.3	nonsynonymous SNV	exon6	c.C944T	p.S315F	NGKIESSVGKSLSKMYARHRKIYTK	NGKIESSVGKSLFKMYARHRKIYTK	3.0	6.0	unscreened	-	4155_10:59956144-59956144 G>A_NGKIESSVGKSLFKMYARHRKIYTK
17:8019003-8019003 C>T	0.0	4155	MELANOMA	-	-	-	-	ALOXE3	NM_001165960,p.R251K|ENST00000380149,p.R275K|uc010vuo.2,p.R251K|uc010cnr.3,p.R119K|ENST00000448843,p.R119K|uc002gka.3,p.R275K|ENST00000318227,p.R251K|NM_021628,p.R119K	retained_intron, protein_coding	uc010vuo.2	nonsynonymous SNV	exon4	c.G752A	p.R251K	GYCTVELRPGTARTICQDSLPLLLD	GYCTVELRPGTAKTICQDSLPLLLD	1.0	3.0	unscreened	-	4155_17:8019003-8019003 C>T_GYCTVELRPGTAKTICQDSLPLLLD
16:7645572-7645572 G>A	0.0	4155	MELANOMA	-	-	-	-	RBFOX1	ENST00000550418,p.E164K|ENST00000551752,p.E164K|ENST00000311745,p.E184K|uc002cyy.2,p.E184K|ENST00000547605,p.E163K|uc002cys.2,p.E164K|ENST00000340209,p.E169K|uc002cyx.2,p.E184K|ENST00000547338,p.E164K|ENST00000436368,p.E184K|uc002cyv.1,p.E164K|uc002cyt.2,p.E164K|NM_145891,p.E184K|NM_145892,p.E184K|uc010uxz.1,p.E207K|NM_018723,p.E164K|uc002cyr.1,p.E163K|uc010uyb.1,p.E164K|NM_001142334,p.E164K|uc002cyw.2,p.E184K|ENST00000422070,p.E207K|ENST00000570626,p.E166K|NM_145893,p.E184K|ENST00000553186,p.E164K|ENST00000355637,p.E184K|uc010uyc.1,p.E184K|uc010buf.1,p.E164K|ENST00000547372,p.E207K|NM_001142333,p.E164K	retained_intron, protein_coding, processed_transcript	uc010uyc.1	nonsynonymous SNV	exon5	c.G550A	p.E184K	ERGSKGFGFVTFENSADADRAREKL	ERGSKGFGFVTFKNSADADRAREKL	1.0	3.0	unscreened	-	4155_16:7645572-7645572 G>A_ERGSKGFGFVTFKNSADADRAREKL
10:124459299-124459299 C>T	0.0	4155	MELANOMA	-	-	-	-	C10orf120	uc001lgn.3,p.R3K|ENST00000329446,p.R3K|NM_001010912,p.R3K	protein_coding	uc001lgn.3	nonsynonymous SNV	exon1	c.G8A	p.R3K	MIREWKNDCQRIEKQ	MIKEWKNDCQRIEKQ	1.0	8.0	unscreened	-	4155_10:124459299-124459299 C>T_MIKEWKNDCQRIEKQ
16:9857500-9857500 C>T	0.0	4155	MELANOMA	-	-	-	1	GRIN2A	NM_000833,p.E1301K|NM_001134407,p.E1301K|ENST00000396575,p.E1301K|uc002czo.4,p.E1301K|ENST00000330684,p.E1301K|ENST00000396573,p.E1301K|uc010uym.2,p.E1301K	retained_intron, protein_coding, processed_transcript	uc010uym.2	nonsynonymous SNV	exon14	c.G3901A	p.E1301K	QHSYDNIVDKPRELDLSRPSRSISL	QHSYDNIVDKPRKLDLSRPSRSISL	1.0	4.0	unscreened	-	4155_16:9857500-9857500 C>T_QHSYDNIVDKPRKLDLSRPSRSISL
3:124351527-124351527 C>T	0.0	4155	MELANOMA	-	-	-	-	KALRN	ENST00000393496,p.P186S|ENST00000454902,p.P116S|ENST00000360013,p.P1813S|ENST00000428018,p.P116S|uc003ehj.2,p.P116S|NM_001024660,p.P1813S|uc003ehk.3,p.P116S|uc003ehi.3,p.P186S|uc003ehg.3,p.P1813S|ENST00000291478,p.P116S|NM_007064,p.P116S	retained_intron, protein_coding, processed_transcript	uc003ehk.3	nonsynonymous SNV	exon2	c.C346T	p.P116S	DLGSPKPGDETTPQGDSADEKSKKG	DLGSPKPGDETTSQGDSADEKSKKG	5.0	8.0	unscreened	-	4155_3:124351527-124351527 C>T_DLGSPKPGDETTSQGDSADEKSKKG
1:176758977-176758977 G>A	0.0	4155	MELANOMA	-	-	-	-	PAPPA2	uc001gkz.3,p.G1583E|NM_020318,p.G1583E|ENST00000367662,p.G1583E	protein_coding, processed_transcript	uc001gkz.3	nonsynonymous SNV	exon18	c.G4748A	p.G1583E	RNKLLKIQCLEGGIWEQGSCIPVVC	RNKLLKIQCLEGEIWEQGSCIPVVC	1.0	3.0	unscreened	-	4155_1:176758977-176758977 G>A_RNKLLKIQCLEGEIWEQGSCIPVVC
1:6194289-6194289 C>T	0.0	4155	MELANOMA	-	-	-	-	CHD5	ENST00000496404,p.D1015N|NM_015557,p.D1015N|ENST00000262450,p.D1015N|uc001amb.2,p.D1015N	protein_coding, nonsense_mediated_decay	uc001amb.2	nonsynonymous SNV	exon20	c.G3043A	p.D1015N	AVEAPVLPNGSYDGSSLVKSSGKLM	AVEAPVLPNGSYNGSSLVKSSGKLM	3.0	3.0	unscreened	-	4155_1:6194289-6194289 C>T_AVEAPVLPNGSYNGSSLVKSSGKLM
16:20975791-20975791 C>T	0.0	4155	MELANOMA	-	-	ID=COSM1376486,COSM1376487;OCCURENCE=1(large_intestine)	-	DNAH3	uc010vbe.2,p.E3139K|uc010vbd.2,p.E574K|NM_017539,p.E3139K|ENST00000261383,p.E3139K	retained_intron, protein_coding, processed_transcript	uc010vbe.2	nonsynonymous SNV	exon53	c.G9415A	p.E3139K	IENIGEELDASIEPILLKATFKQQG	IENIGEELDASIKPILLKATFKQQG	1.0	5.0	unscreened	-	4155_16:20975791-20975791 C>T_IENIGEELDASIKPILLKATFKQQG
2:1926193-1926193 C>T	0.0	4155	MELANOMA	-	-	-	-	MYT1L	ENST00000428368,p.E450K|ENST00000399161,p.E450K|uc002qxd.3,p.E450K|uc002qxe.3,p.E450K|NM_015025,p.E450K|ENST00000602387,p.E104K	retained_intron, protein_coding, processed_transcript	uc002qxe.3	nonsynonymous SNV	exon10	c.G1348A	p.E450K	IALETERAKAMREKMAMEAGRRDNM	IALETERAKAMRKKMAMEAGRRDNM	1.0	5.0	unscreened	-	4155_2:1926193-1926193 C>T_IALETERAKAMRKKMAMEAGRRDNM
19:9090941-9090941 C>T	0.0	4155	MELANOMA	-	-	-	2	MUC16	NM_024690,p.D292N|ENST00000397910,p.D292N|uc002mkp.3,p.D292N	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.G874A	p.D292N	TSAPLSSSASVLDNKISETSIFSGQ	TSAPLSSSASVLNNKISETSIFSGQ	1.0	5.0	unscreened	-	4155_19:9090941-9090941 C>T_TSAPLSSSASVLNNKISETSIFSGQ
18:29038546-29038546 G>A	0.0	4155	MELANOMA	-	-	-	-	DSG3	ENST00000257189,p.E119K|NM_001944,p.E119K|uc002kws.3,p.E119K	protein_coding	uc002kws.3	nonsynonymous SNV	exon4	c.G355A	p.E119K	GDINITAIVDREETPSFLITCRALN	GDINITAIVDREKTPSFLITCRALN	1.0	4.0	unscreened	-	4155_18:29038546-29038546 G>A_GDINITAIVDREKTPSFLITCRALN
12:48866673-48866673 G>A	0.0	4155	MELANOMA	-	-	-	-	ANP32D	uc010slt.2,p.A76T|ENST00000266594,p.A76T|NM_012404,p.A76T	protein_coding	uc010slt.2	nonsynonymous SNV	exon1	c.G226A	p.A76T	NKLKKLELSSNRASVGLEVLAEKCP	NKLKKLELSSNRTSVGLEVLAEKCP	1.0	6.0	unscreened	-	4155_12:48866673-48866673 G>A_NKLKKLELSSNRTSVGLEVLAEKCP
2:109384508-109384508 C>T	0.0	4155	MELANOMA	-	-	-	1	RANBP2	NM_006267,p.P2505S|ENST00000283195,p.P2505S|uc002tem.4,p.P2505S	retained_intron, protein_coding, nonsense_mediated_decay	uc002tem.4	nonsynonymous SNV	exon20	c.C7513T	p.P2505S	SEVEVSSTSETTPKAVVSPPKFVFG	SEVEVSSTSETTSKAVVSPPKFVFG	7.0	4.0	unscreened	-	4155_2:109384508-109384508 C>T_SEVEVSSTSETTSKAVVSPPKFVFG
16:7645572-7645572 G>A	0.0	4155	MELANOMA	-	-	-	-	RBFOX1	ENST00000552089,p.E181K	retained_intron, protein_coding, processed_transcript	ENST00000552089	nonsynonymous SNV	exon6	c.G541A	p.E181K	RQMFGGFGFVTFENSADADRAREKL	RQMFGGFGFVTFKNSADADRAREKL	1.0	3.0	unscreened	-	4155_16:7645572-7645572 G>A_RQMFGGFGFVTFKNSADADRAREKL
12:55968201-55968201 G>A	0.0	4155	MELANOMA	-	-	-	-	OR2AP1	NM_001258285,p.M1I|uc031qhr.1,p.M1I|ENST00000321688,p.M1I	protein_coding	uc031qhr.1	nonsynonymous SNV	exon1	c.G3A	p.M1I	MKNKTVLTEFILL	IKNKTVLTEFILL	1.0	7.0	unscreened	-	4155_12:55968201-55968201 G>A_IKNKTVLTEFILL
8:3205627-3205627 G>A	0.0	4155	MELANOMA	-	-	-	-	CSMD1	uc022aqr.1,p.P1121S|ENST00000542608,p.P1121S|ENST00000539096,p.P1121S|ENST00000537824,p.P1121S|uc003wqe.3,p.P278S|ENST00000602557,p.P1122S|ENST00000400186,p.P1122S|ENST00000602723,p.P1122S|uc011kwj.2,p.P514S|NM_033225,p.P1121S|ENST00000520002,p.P1122S	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon22	c.C3361T	p.P1121S	KGNEGTLLSPNFPSNYDNNHECIYK	KGNEGTLLSPNFSSNYDNNHECIYK	1.0	3.0	unscreened	-	4155_8:3205627-3205627 G>A_KGNEGTLLSPNFSSNYDNNHECIYK
3:133099690-133099690 G>A	0.0	4155	MELANOMA	-	-	-	-	TMEM108	ENST00000321871,p.A379T|uc003epj.1,p.A379T|NM_001136469,p.A379T|uc003epi.3,p.A379T|NM_023943,p.A379T|ENST00000393130,p.A379T|ENST00000515826,p.A379T|uc003eph.3,p.A379T	retained_intron, protein_coding, processed_transcript	uc003epj.1	nonsynonymous SNV	exon3	c.G1135A	p.A379T	SVSAPSQGIPQGASTTPQAPTHPSR	SVSAPSQGIPQGTSTTPQAPTHPSR	6.0	7.0	unscreened	-	4155_3:133099690-133099690 G>A_SVSAPSQGIPQGTSTTPQAPTHPSR
6:70386070-70386070 G>A	0.0	4155	MELANOMA	-	-	-	-	LMBRD1	uc010kal.3,p.P462S|ENST00000370577,p.P535S|uc003pez.3,p.P462S|uc003pfa.3,p.P535S|ENST00000370570,p.P462S|NM_018368,p.P535S	protein_coding, nonsense_mediated_decay	uc010kal.3	nonsynonymous SNV	exon16	c.C1384T	p.P462S	GVDEDSDISDDEPSVYSA	GVDEDSDISDDESSVYSA	4.0	5.0	unscreened	-	4155_6:70386070-70386070 G>A_GVDEDSDISDDESSVYSA
17:73049169-73049169 G>A	0.0	4155	MELANOMA	-	-	-	-	KCTD2	ENST00000322444,p.R170K|uc002jmp.3,p.R170K|NM_015353,p.R170K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jmp.3	nonsynonymous SNV	exon3	c.G509A	p.R170K	YNIASLVRLVKERIRDNENRTSQGP	YNIASLVRLVKEKIRDNENRTSQGP	7.0	5.0	unscreened	-	4155_17:73049169-73049169 G>A_YNIASLVRLVKEKIRDNENRTSQGP
13:103388916-103388916 C>T	0.0	4155	MELANOMA	-	-	-	-	CCDC168	uc001vpm.3,p.E4711K|NM_001146197,p.E4711K|ENST00000322527,p.E82K	protein_coding	uc001vpm.3	nonsynonymous SNV	exon4	c.G14131A	p.E4711K	TSSAFLELDSIKEEEGEPRITRSFM	TSSAFLELDSIKKEEGEPRITRSFM	1.0	3.0	unscreened	-	4155_13:103388916-103388916 C>T_TSSAFLELDSIKKEEGEPRITRSFM
22:44285681-44285681 C>T	0.0	4155	MELANOMA	-	-	-	-	PNPLA5	uc011aqc.2,p.G38E	protein_coding	uc011aqc.2	nonsynonymous SNV	exon3	c.G113A	p.G38E	FLLRADPPRVQRGDCPSTITVSPFH	FLLRADPPRVQREDCPSTITVSPFH	1.0	7.0	unscreened	-	4155_22:44285681-44285681 C>T_FLLRADPPRVQREDCPSTITVSPFH
17:48267054-48267054 G>A	0.0	4155	MELANOMA	-	-	-	1	COL1A1	NM_000088,p.P885S|ENST00000225964,p.P885S|uc002iqm.3,p.P885S	retained_intron, protein_coding	uc002iqm.3	nonsynonymous SNV	exon38	c.C2653T	p.P885S	ATGFPGAAGRVGPPGPSGNAGPPGP	ATGFPGAAGRVGSPGPSGNAGPPGP	10.0	6.0	unscreened	-	4155_17:48267054-48267054 G>A_ATGFPGAAGRVGSPGPSGNAGPPGP
2:233321754-233321754 T>C	0.0	4155	MELANOMA	-	-	-	-	ALPI	NM_001631,p.I149T|uc002vsu.4,p.I60T|uc002vst.4,p.I149T|ENST00000295463,p.I149T	protein_coding, nonsense_mediated_decay	uc002vsu.4	nonsynonymous SNV	exon3	c.T179C	p.I60T	FNQCNTTRGNEVISVMNRAKQAGKS	FNQCNTTRGNEVTSVMNRAKQAGKS	1.0	4.0	unscreened	-	4155_2:233321754-233321754 T>C_FNQCNTTRGNEVTSVMNRAKQAGKS
1:55527111-55527111 G>A	0.0	4155	MELANOMA	-	-	-	-	PCSK9	ENST00000302118,p.R582Q|uc001cyf.2,p.R582Q|NM_174936,p.R582Q	protein_coding, processed_transcript	uc001cyf.2	nonsynonymous SNV	exon11	c.G1745A	p.R582Q	DLGTHKPPVLRPRGQPNQCVGHREA	DLGTHKPPVLRPQGQPNQCVGHREA	1.0	7.0	unscreened	-	4155_1:55527111-55527111 G>A_DLGTHKPPVLRPQGQPNQCVGHREA
16:22142970-22142970 G>A	0.0	4155	MELANOMA	-	-	-	-	VWA3A	uc010vbq.2,p.E598K|uc010bxc.2,p.E606K|ENST00000568328,p.E619K|ENST00000389398,p.E598K|NM_173615,p.E598K	retained_intron, protein_coding, nonsense_mediated_decay	uc010vbq.2	nonsynonymous SNV	exon19	c.G1792A	p.E598K	SRNVLSALRKAVEVDFKDKDKHQSQ	SRNVLSALRKAVKVDFKDKDKHQSQ	4.0	6.0	unscreened	-	4155_16:22142970-22142970 G>A_SRNVLSALRKAVKVDFKDKDKHQSQ
4:158282714-158282714 G>A	0.0	4155	MELANOMA	-	-	-	-	GRIA2	uc011ciu.1,p.E121K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ciu.1	nonsynonymous SNV	exon3	c.G361A	p.E121K	GDSKNPSKSCSIETQ	GDSKNPSKSCSIKTQ	1.0	8.0	unscreened	-	4155_4:158282714-158282714 G>A_GDSKNPSKSCSIKTQ
15:50366341-50366341 C>T	0.0	4155	MELANOMA	-	-	-	-	ATP8B4	ENST00000559829,p.E24K|ENST00000557955,p.E24K|uc001zxu.3,p.E24K|ENST00000558906,p.E24K|ENST00000559726,p.E24K|ENST00000558829,p.E24K|NM_024837,p.E24K|ENST00000284509,p.E24K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zxu.3	nonsynonymous SNV	exon3	c.G70A	p.E24K	ERIVKANDREYNEKFQYADNRIHTS	ERIVKANDREYNKKFQYADNRIHTS	1.0	7.0	unscreened	-	4155_15:50366341-50366341 C>T_ERIVKANDREYNKKFQYADNRIHTS
1:175324649-175324649 C>T	0.0	4155	MELANOMA	-	-	-	-	TNR	uc009wwu.1,p.G1080E|NM_003285,p.G1080E|ENST00000367674,p.G1080E|ENST00000263525,p.G1080E|uc001gkp.1,p.G1080E	protein_coding	uc009wwu.1	nonsynonymous SNV	exon17	c.G3239A	p.G1080E	IENYVLTYKSTDGSRKELIVDAEDT	IENYVLTYKSTDESRKELIVDAEDT	1.0	5.0	unscreened	-	4155_1:175324649-175324649 C>T_IENYVLTYKSTDESRKELIVDAEDT
2:179581978-179581978 C>T	0.0	4155	MELANOMA	-	-	-	-	TTN	uc002umz.1,p.E3912K|ENST00000591111,p.E8178K|ENST00000342992,p.E7251K|uc021vsy.2,p.E7251K|uc031rqd.1,p.E8178K|NM_001267550,p.E8495K|NM_133378,p.E7251K|uc031rqc.1,p.E8495K|NM_001256850,p.E8178K|ENST00000589042,p.E8495K	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon86	c.G24532A	p.E8178K	APIKITWAKDNREIRPGGNYKMTLV	APIKITWAKDNRKIRPGGNYKMTLV	2.0	4.0	unscreened	-	4155_2:179581978-179581978 C>T_APIKITWAKDNRKIRPGGNYKMTLV
11:20652260-20652260 C>T	0.0	4155	MELANOMA	-	-	-	-	SLC6A5	NM_004211,p.T508I|uc001mqd.3,p.T508I|uc009yic.3,p.T273I|ENST00000525748,p.T508I	protein_coding, processed_transcript, nonsense_mediated_decay	uc009yic.3	nonsynonymous SNV	exon9	c.C818T	p.T273I	NNCYRDTLIVTCTNSATSIFAGFVI	NNCYRDTLIVTCINSATSIFAGFVI	1.0	5.0	unscreened	-	4155_11:20652260-20652260 C>T_NNCYRDTLIVTCINSATSIFAGFVI
17:36707420-36707420 C>T	0.0	4155	MELANOMA	-	-	-	-	SRCIN1	uc002hqd.3,p.R978Q|ENST00000264659,p.R978Q|uc002hqf.1,p.R850Q|NM_025248,p.R978Q|uc002hqe.2,p.R832Q|ENST00000578925,p.R1012Q	retained_intron, protein_coding, processed_transcript	uc002hqf.1	nonsynonymous SNV	exon11	c.G2549A	p.R850Q	PPKAPHGQKAAPRTEPSGRRGSDEL	PPKAPHGQKAAPQTEPSGRRGSDEL	3.0	8.0	unscreened	-	4155_17:36707420-36707420 C>T_PPKAPHGQKAAPQTEPSGRRGSDEL
10:71688723-71688723 C>A	0.0	4155	MELANOMA	-	-	-	-	COL13A1	ENST00000398973,p.P474T|ENST00000398972,p.P474T|ENST00000398969,p.P417T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000398973	nonsynonymous SNV	exon27	c.C1420A	p.P474T	LRGPPGLPGQIGPPGAPGIPGQKGE	LRGPPGLPGQIGTPGAPGIPGQKGE	1.0	6.0	unscreened	-	4155_10:71688723-71688723 C>A_LRGPPGLPGQIGTPGAPGIPGQKGE
10:71688723-71688723 C>A	0.0	4155	MELANOMA	-	-	-	-	COL13A1	NM_080805,p.P423T|uc021psb.1,p.P423T|uc021psh.1,p.P455T|NM_080802,p.P452T|ENST00000517713,p.P452T|ENST00000398964,p.P445T|uc021psd.1,p.P452T|ENST00000479733,p.P483T|ENST00000356340,p.P474T|ENST00000398971,p.P474T|ENST00000398978,p.P474T|ENST00000398974,p.P462T|NM_080798,p.P417T|ENST00000398968,p.P455T|ENST00000354547,p.P452T|ENST00000357811,p.P452T|NM_080801,p.P452T|uc021psg.1,p.P452T|NM_080800,p.P455T|uc010qjf.2,p.P417T|uc001jql.3,p.P474T|uc001jqk.2,p.P452T|ENST00000522165,p.P455T|uc021prz.1,p.P452T|NM_001130103,p.P474T|uc021psf.1,p.P474T|ENST00000398966,p.P452T|uc021pse.1,p.P423T|ENST00000520133,p.P423T|uc021psc.1,p.P455T|uc021psa.1,p.P417T|ENST00000520267,p.P417T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021psh.1	nonsynonymous SNV	exon26	c.C1363A	p.P455T	LMGPPGLPGQIGPPGAPGIPGQKGE	LMGPPGLPGQIGTPGAPGIPGQKGE	1.0	6.0	unscreened	-	4155_10:71688723-71688723 C>A_LMGPPGLPGQIGTPGAPGIPGQKGE
6:39158832-39158832 C>T	0.0	4155	MELANOMA	-	-	-	-	KCNK5	uc003oon.3,p.G445E|ENST00000359534,p.G445E|NM_003740,p.G445E	protein_coding	uc003oon.3	nonsynonymous SNV	exon5	c.G1334A	p.G445E	ETSKSSLEDNLAGEESPQQGAEAKA	ETSKSSLEDNLAEEESPQQGAEAKA	3.0	3.0	unscreened	-	4155_6:39158832-39158832 C>T_ETSKSSLEDNLAEEESPQQGAEAKA
3:57132050-57132050 C>T	0.0	4155	MELANOMA	-	-	-	-	IL17RD	uc003dil.3,p.E561K|ENST00000463523,p.E417K|ENST00000427856,p.E537K|ENST00000296318,p.E561K|NM_017563,p.E561K|ENST00000320057,p.E417K|uc011bex.1,p.E417K|uc010hna.3,p.E417K|uc003dik.3,p.E537K	retained_intron, protein_coding, processed_transcript	uc011bex.1	nonsynonymous SNV	exon12	c.G1249A	p.E417K	MHQFIDEEPDWFEKQFVPFHPPPLR	MHQFIDEEPDWFKKQFVPFHPPPLR	3.0	5.0	unscreened	-	4155_3:57132050-57132050 C>T_MHQFIDEEPDWFKKQFVPFHPPPLR
20:944670-944670 C>T	0.0	4155	MELANOMA	-	-	-	-	RSPO4	uc002wej.3,p.R168Q|ENST00000217260,p.R168Q|NM_001029871,p.R168Q	protein_coding	uc002wej.3	nonsynonymous SNV	exon4	c.G503A	p.R168Q	TCGSAWGLESRVREAGRAGHEEAAT	TCGSAWGLESRVQEAGRAGHEEAAT	3.0	6.0	unscreened	-	4155_20:944670-944670 C>T_TCGSAWGLESRVQEAGRAGHEEAAT
17:9745895-9745895 G>A	0.0	4155	MELANOMA	-	-	-	-	GLP2R	NM_004246,p.D156N|uc002gmd.1,p.D156N|ENST00000262441,p.D156N	protein_coding, nonsense_mediated_decay	uc002gmd.1	nonsynonymous SNV	exon4	c.G466A	p.D156N	QTIENATDIWQDDSECSENHSFKQN	QTIENATDIWQDNSECSENHSFKQN	1.0	3.0	unscreened	-	4155_17:9745895-9745895 G>A_QTIENATDIWQDNSECSENHSFKQN
10:30318556-30318556 C>T	0.0	4155	MELANOMA	-	-	-	-	KIAA1462	uc001iux.3,p.R174Q|NM_020848,p.R174Q|ENST00000375377,p.R174Q|uc009xle.2,p.R174Q|uc001iuz.3,p.R36Q	protein_coding, processed_transcript	uc009xle.2	nonsynonymous SNV	exon3	c.G521A	p.R174Q	HVMKKPVWEEELRMSGPAKWQNVSL	HVMKKPVWEEELQMSGPAKWQNVSL	4.0	5.0	unscreened	-	4155_10:30318556-30318556 C>T_HVMKKPVWEEELQMSGPAKWQNVSL
1:247712513-247712513 G>A	0.0	4155	MELANOMA	-	-	ID=COSM907040,COSM907041;OCCURENCE=1(endometrium),1(liver)	-	GCSAML	NM_001281835,p.R7Q|ENST00000366491,p.R7Q|NM_001281834,p.R7Q|ENST00000366489,p.R7Q|ENST00000536561,p.R7Q	protein_coding, processed_transcript	NM_001281835	nonsynonymous SNV	exon3	c.G20A	p.R7Q	MGNYLLRKLRQEMTTFERK	MGNYLLQKLRQEMTTFERK	2.0	5.0	unscreened	-	4155_1:247712513-247712513 G>A_MGNYLLQKLRQEMTTFERK
1:6512139-6512139 G>A	0.0	4155	MELANOMA	-	-	-	-	ESPN	uc001amz.3,p.E204K|ENST00000461727,p.E204K|NM_031475,p.E770K|uc001amy.3,p.E770K|ENST00000416731,p.E204K|ENST00000377828,p.E770K	retained_intron, protein_coding, processed_transcript	uc001amz.3	nonsynonymous SNV	exon5	c.G610A	p.E204K	MVRKMQLKMQEEEEQRRKEEEEEAR	MVRKMQLKMQEEKEQRRKEEEEEAR	1.0	4.0	unscreened	-	4155_1:6512139-6512139 G>A_MVRKMQLKMQEEKEQRRKEEEEEAR
8:110489600-110489600 C>T	0.0	4155	MELANOMA	-	-	-	-	PKHD1L1	uc003yne.3,p.P3022S|ENST00000378402,p.P3022S|NM_177531,p.P3022S	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon53	c.C9064T	p.P3022S	CFPVHPPSRKPIPKKRPATYNLWSN	CFPVHPPSRKPISKKRPATYNLWSN	1.0	4.0	unscreened	-	4155_8:110489600-110489600 C>T_CFPVHPPSRKPISKKRPATYNLWSN
12:7177764-7177764 G>A	0.0	4155	MELANOMA	-	-	-	-	C1S	ENST00000360817,p.D626N|NM_201442,p.D626N|NM_001734,p.D626N|ENST00000402681,p.D459N|uc001qsj.3,p.D626N|ENST00000328916,p.D626N|uc001qsl.3,p.D626N|uc001qsk.3,p.D626N|ENST00000406697,p.D626N|uc009zfr.3,p.D459N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zfr.3	nonsynonymous SNV	exon11	c.G1375A	p.D459N	PNMICAGGEKGMDSCKGDSGGAFAV	PNMICAGGEKGMNSCKGDSGGAFAV	7.0	4.0	unscreened	-	4155_12:7177764-7177764 G>A_PNMICAGGEKGMNSCKGDSGGAFAV
11:99715916-99715916 G>A	0.0	4155	MELANOMA	-	-	-	-	CNTN5	ENST00000527185,p.D167N|ENST00000528682,p.D167N|NM_014361,p.D167N|NM_001243270,p.D167N|uc001pga.3,p.D167N|ENST00000279463,p.D167N|ENST00000524871,p.D167N|uc009ywv.2,p.D167N|uc021qpc.1,p.D93N|NM_001243271,p.D167N|NM_175566,p.D93N|ENST00000418526,p.D93N|uc021qpb.1,p.D167N|uc001pfz.3,p.D167N	retained_intron, protein_coding, processed_transcript	uc021qpc.1	nonsynonymous SNV	exon3	c.G277A	p.D93N	GTFIISNPSEAKDSGHYQCLATNTV	GTFIISNPSEAKNSGHYQCLATNTV	1.0	4.0	unscreened	-	4155_11:99715916-99715916 G>A_GTFIISNPSEAKNSGHYQCLATNTV
20:44685064-44685064 G>A	0.0	4155	MELANOMA	-	-	-	-	SLC12A5	NM_001134771,p.E1014K|uc002xrb.2,p.E991K|ENST00000454036,p.E1014K|NM_020708,p.E991K|uc010zxl.1,p.E1014K|ENST00000243964,p.E991K	protein_coding	uc010zxl.1	nonsynonymous SNV	exon23	c.G3040A	p.E1014K	APSCPSSSPSPGEEPEGEGETDPEK	APSCPSSSPSPGKEPEGEGETDPEK	1.0	4.0	unscreened	-	4155_20:44685064-44685064 G>A_APSCPSSSPSPGKEPEGEGETDPEK
1:1115521-1115521 G>C	0.0	4155	MELANOMA	-	-	-	-	TTLL10	uc001acy.2,p.G103R|ENST00000379290,p.G103R|NM_153254,p.G30R|NM_001130045,p.G103R|ENST00000379289,p.G103R|uc001acz.2,p.G30R|ENST00000379288,p.G30R|uc010nyg.1,p.G103R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010nyg.1	nonsynonymous SNV	exon6	c.G307C	p.G103R	HDADGHCGPDLEGAERASATPGPPG	HDADGHCGPDLERAERASATPGPPG	1.0	5.0	unscreened	-	4155_1:1115521-1115521 G>C_HDADGHCGPDLERAERASATPGPPG
2:166152451-166152451 G>A	0.0	4155	MELANOMA	-	-	-	-	SCN2A	NM_001040143,p.E40K|NM_001040142,p.E40K|ENST00000357398,p.E40K|ENST00000283256,p.E40K|ENST00000424833,p.E40K|uc002ude.3,p.E40K|NM_021007,p.E40K|uc002udc.3,p.E40K|ENST00000375427,p.E40K|ENST00000375437,p.E40K|uc002udd.3,p.E40K	retained_intron, protein_coding	uc002ude.3	nonsynonymous SNV	exon1	c.G118A	p.E40K	RIAEEKAKRPKQERKDEDDENGPKP	RIAEEKAKRPKQKRKDEDDENGPKP	1.0	7.0	unscreened	-	4155_2:166152451-166152451 G>A_RIAEEKAKRPKQKRKDEDDENGPKP
1:3342782-3342782 G>A	0.0	4155	MELANOMA	-	-	-	1	PRDM16	ENST00000514189,p.E1093K|NM_022114,p.E1093K|uc001akf.3,p.E1093K|ENST00000270722,p.E1093K|ENST00000441472,p.E1092K|ENST00000442529,p.E1092K|ENST00000378398,p.E1093K|ENST00000378391,p.E1093K|uc001ake.3,p.E1093K|ENST00000509860,p.E901K|uc009vlh.3,p.E793K|ENST00000511072,p.E1094K|NM_199454,p.E1093K|uc001akc.3,p.E1092K	protein_coding, processed_transcript	uc009vlh.3	nonsynonymous SNV	exon14	c.G2377A	p.E793K	ANSEMNQASTRTEKRADMQIVDGSA	ANSEMNQASTRTKKRADMQIVDGSA	1.0	4.0	unscreened	-	4155_1:3342782-3342782 G>A_ANSEMNQASTRTKKRADMQIVDGSA
6:36995265-36995265 G>A	0.0	4155	MELANOMA	-	-	-	-	FGD2	ENST00000274963,p.D556N|uc010jwp.1,p.D556N|uc003ong.2,p.D278N|NM_173558,p.D556N|uc003onj.1,p.D133N|uc011dtv.1,p.D184N	retained_intron, protein_coding, nonsense_mediated_decay	uc011dtv.1	nonsynonymous SNV	exon13	c.G550A	p.D184N	QSLMCSFLQLIGDKWGKSGPRGWCV	QSLMCSFLQLIGNKWGKSGPRGWCV	4.0	6.0	unscreened	-	4155_6:36995265-36995265 G>A_QSLMCSFLQLIGNKWGKSGPRGWCV
12:18435169-18435169 C>T	0.0	4155	MELANOMA	-	-	-	-	PIK3C2G	uc001rdt.3,p.P52S|ENST00000538779,p.P52S|ENST00000433979,p.P52S|NM_001288772,p.P52S|ENST00000266497,p.P52S|ENST00000546003,p.P52S|uc010sib.2,p.P52S|ENST00000535651,p.P52S|NM_004570,p.P52S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010sib.2	nonsynonymous SNV	exon1	c.C154T	p.P52S	FDQIVDEISGKIPHYESEIDENTFF	FDQIVDEISGKISHYESEIDENTFF	1.0	5.0	unscreened	-	4155_12:18435169-18435169 C>T_FDQIVDEISGKISHYESEIDENTFF
21:38390451-38390451 G>A	0.0	4155	MELANOMA	-	-	-	-	RIPPLY3	ENST00000329553,p.G173S|uc002yvv.3,p.G173S|NM_018962,p.G173S	protein_coding, processed_transcript	uc002yvv.3	nonsynonymous SNV	exon4	c.G517A	p.G173S	QRSSGGGDHWGEGPLPQGVSSRGGK	QRSSGGGDHWGESPLPQGVSSRGGK	2.0	5.0	unscreened	-	4155_21:38390451-38390451 G>A_QRSSGGGDHWGESPLPQGVSSRGGK
22:40045737-40045737 G>A	0.0	4155	MELANOMA	-	-	-	-	CACNA1I	NM_001003406,p.G565E|ENST00000404898,p.G565E|ENST00000402142,p.G600E|ENST00000401624,p.G600E|uc003ayc.3,p.G600E|ENST00000400164,p.G565E|uc003aye.3,p.G515E|ENST00000407673,p.G565E|uc003ayd.3,p.G565E|uc003ayf.3,p.G480E|NM_021096,p.G600E|ENST00000336649,p.G606E	protein_coding, processed_transcript	uc003ayf.3	nonsynonymous SNV	exon8	c.G1439A	p.G480E	EADGDGARSSEDGASSELGKEEEEE	EADGDGARSSEDEASSELGKEEEEE	1.0	4.0	unscreened	-	4155_22:40045737-40045737 G>A_EADGDGARSSEDEASSELGKEEEEE
11:130278821-130278821 C>T	0.0	4155	MELANOMA	-	-	-	-	ADAMTS8	NM_007037,p.E589K|ENST00000257359,p.E589K|uc001qgf.3,p.E70K|uc001qgg.4,p.E589K	retained_intron, protein_coding	uc001qgg.4	nonsynonymous SNV	exon7	c.G1765A	p.E589K	TEECPPDGKSFREQQCEKYNAYNYT	TEECPPDGKSFRKQQCEKYNAYNYT	1.0	5.0	unscreened	-	4155_11:130278821-130278821 C>T_TEECPPDGKSFRKQQCEKYNAYNYT
1:1115522-1115522 G>A	0.0	4155	MELANOMA	-	-	-	-	TTLL10	ENST00000379290,p.G103E|ENST00000379289,p.G103E|uc010nyg.1,p.G103E|NM_153254,p.G30E|uc001acy.2,p.G103E|NM_001130045,p.G103E|uc001acz.2,p.G30E|ENST00000379288,p.G30E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010nyg.1	nonsynonymous SNV	exon6	c.G308A	p.G103E	HDADGHCGPDLEGAERASATPGPPG	HDADGHCGPDLEEAERASATPGPPG	1.0	4.0	unscreened	-	4155_1:1115522-1115522 G>A_HDADGHCGPDLEEAERASATPGPPG
6:106969074-106969074 G>A	0.0	4155	MELANOMA	-	-	-	-	AIM1	ENST00000369066,p.E923K|NM_001624,p.E923K|uc003prh.3,p.E923K	protein_coding, processed_transcript	uc003prh.3	nonsynonymous SNV	exon2	c.G2767A	p.E923K	TSHSSLKSPSHMEKYPQKEKTKEDL	TSHSSLKSPSHMKKYPQKEKTKEDL	2.0	3.0	unscreened	-	4155_6:106969074-106969074 G>A_TSHSSLKSPSHMKKYPQKEKTKEDL
1:878363-878363 G>A	0.0	4155	MELANOMA	-	-	-	-	SAMD11	uc031pjt.1,p.E435K|uc031pke.1,p.E312K|uc031pkh.1,p.E372K|uc031pko.1,p.E312K|uc031pju.1,p.E498K|uc031pjl.1,p.E482K|uc031pkc.1,p.E471K|uc031pkp.1,p.E158K|uc031pjx.1,p.E482K|uc031pjq.1,p.E296K|uc031pka.1,p.E203K|NM_152486,p.E497K|uc031pjs.1,p.E481K|uc031pjr.1,p.E158K|uc031pkb.1,p.E267K|uc001abx.2,p.E481K|uc031pjy.1,p.E296K|uc031pjv.1,p.E312K|ENST00000342066,p.E497K|uc001abw.1,p.E497K|uc031pjm.1,p.E498K|uc031pjp.1,p.E388K|uc031pkg.1,p.E389K|uc031pkm.1,p.E417K	retained_intron, protein_coding, processed_transcript	uc031pkp.1	nonsynonymous SNV	exon3	c.G472A	p.E158K	TPGQAPAGGAGAEGKGLFPGSTLPL	TPGQAPAGGAGAKGKGLFPGSTLPL	4.0	5.0	unscreened	-	4155_1:878363-878363 G>A_TPGQAPAGGAGAKGKGLFPGSTLPL
15:50782488-50782488 G>A	1.0	4158	COLON	-	-	-	1	USP8	uc010ufh.2,p.R561H|NM_001283049,p.R561H|NM_005154,p.R667H|ENST00000425032,p.R561H|uc001zyn.4,p.R667H|uc001zym.4,p.R667H|uc001zyl.4,p.R667H|ENST00000433963,p.R667H|ENST00000307179,p.R667H|NM_001128610,p.R667H|ENST00000396444,p.R667H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay	uc010ufh.2	nonsynonymous SNV	exon11	c.G1682A	p.R561H	WAKFLDPITGTFRYYHSPTNTVHMY	WAKFLDPITGTFHYYHSPTNTVHMY	10.0	6.0	CD8	-	4158_15:50782488-50782488 G>A_WAKFLDPITGTFHYYHSPTNTVHMY
12:52470943-52470943 G>T	1.0	4158	COLON	-	-	-	-	ATG101	uc001rzu.4,p.R209L|ENST00000336854,p.R209L|NM_021934,p.R209L|NM_001098673,p.R209L|uc009zmd.3,p.R209L	retained_intron, protein_coding, processed_transcript	uc009zmd.3	nonsynonymous SNV	exon4	c.G626T	p.R209L	TDALGTSVTTTMRRLIKDTLAL	TDALGTSVTTTMLRLIKDTLAL	9.0	8.0	-	-	4158_12:52470943-52470943 G>T_TDALGTSVTTTMLRLIKDTLAL
1:27094445-27094445 ->T	1.0	4158	COLON	-	-	-	1	ARID1A	ENST00000374152,p.L668fs|NM_139135,p.L1051fs|uc001bmt.1,p.L1051fs|NM_006015,p.L1051fs|uc001bmw.1,p.L668fs|uc001bmv.1,p.L1051fs|uc001bmu.1,p.L1051fs|ENST00000457599,p.L1051fs|ENST00000324856,p.L1051fs	retained_intron, protein_coding, nonsense_mediated_decay	uc001bmw.1	frameshift insertion	exon10	c.2005dupT	p.L668fs	TNLPAVGRKPLDLYRLYVSVKEIGG	TNLPAVGRKPLDLLSPLCVCEGDWWIDSGQQEQKMAGTCNQPQCGHIKQCCQLLEKAVYPVSLCL	9.0	9.0	-	-	4158_1:27094445-27094445 ->T_TNLPAVGRKPLDLLSPLCVCEGDWWIDSGQQEQKMAGTCNQPQCGHIKQCCQLLEKAVYPVSLCL
1:54262404-54262404 T>A	0.0	4158	COLON	-	-	-	-	NDC1	uc001cvt.3,p.Q391H|NM_018087,p.Q514H|NM_001168551,p.Q474H|ENST00000234725,p.Q399H|uc001cvs.3,p.Q514H|uc010onu.2,p.Q474H|ENST00000537333,p.Q179H|ENST00000371429,p.Q514H|uc010onv.2,p.Q179H	protein_coding, processed_transcript	uc010onv.2	nonsynonymous SNV	exon11	c.A537T	p.Q179H	STSISAEGKTMRQPSVIYSWIQNKR	STSISAEGKTMRHPSVIYSWIQNKR	8.0	1.0	unscreened	-	4158_1:54262404-54262404 T>A_STSISAEGKTMRHPSVIYSWIQNKR
10:32322862-32322862 C>T	1.0	4158	COLON	-	-	ID=COSM1347617;OCCURENCE=1(large_intestine)	1	KIF5B	uc001iwe.4,p.A406T|NM_004521,p.A406T|ENST00000302418,p.A406T	protein_coding, processed_transcript	uc001iwe.4	nonsynonymous SNV	exon12	c.G1216A	p.A406T	KDITLTNDKPATAIGVIGNFTDAER	KDITLTNDKPATTIGVIGNFTDAER	10.0	3.0	-	-	4158_10:32322862-32322862 C>T_KDITLTNDKPATTIGVIGNFTDAER
11:67161010-67161010 C>T	1.0	4158	COLON	-	-	-	-	RAD9A	uc001okr.3,p.T93M|NM_004584,p.T93M|ENST00000542139,p.T93M|NM_001243224,p.T17M|ENST00000307980,p.T93M|uc021qmg.1,p.T17M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qmg.1	nonsynonymous SNV	exon1	c.C50T	p.T17M	LSVFRSLAMLEKTVEKCCISLNGRS	LSVFRSLAMLEKMVEKCCISLNGRS	9.0	5.0	-	-	4158_11:67161010-67161010 C>T_LSVFRSLAMLEKMVEKCCISLNGRS
11:118981620-118981620 C>T	1.0	4158	COLON	-	-	-	-	C2CD2L	uc001pvo.3,p.R212C|NM_014807,p.R212C|uc001pvn.3,p.R212C|NM_001290474,p.R212C|ENST00000336702,p.R212C	retained_intron, protein_coding, processed_transcript	uc001pvo.3	nonsynonymous SNV	exon4	c.C634T	p.R212C	GEGLLISWAFTDRPDLSLTVLPKLQ	GEGLLISWAFTDCPDLSLTVLPKLQ	7.0	7.0	-	-	4158_11:118981620-118981620 C>T_GEGLLISWAFTDCPDLSLTVLPKLQ
6:32052393-32052393 C>T	0.0	4158	COLON	-	-	-	-	TNXB	ENST00000375247,p.R1081H|uc003nzl.2,p.R1081H|NM_019105,p.R1081H|ENST00000375244,p.R1081H	retained_intron, protein_coding	uc003nzl.2	nonsynonymous SNV	exon8	c.G3242A	p.R1081H	TVTDRTSDSLLLRWTVPEGEFDSFV	TVTDRTSDSLLLHWTVPEGEFDSFV	8.0	4.0	-	-	4158_6:32052393-32052393 C>T_TVTDRTSDSLLLHWTVPEGEFDSFV
17:17070735-17070735 C>G	0.0	4158	COLON	-	-	-	-	MPRIP	uc002gqy.2,p.L786V|uc002gqx.2,p.L786V	retained_intron, protein_coding, processed_transcript	uc002gqy.2	nonsynonymous SNV	exon1	c.C2356G	p.L786V	DAESKHSMSMFTLRGRYEEEIRCVV	DAESKHSMSMFTVRGRYEEEIRCVV	10.0	9.0	-	-	4158_17:17070735-17070735 C>G_DAESKHSMSMFTVRGRYEEEIRCVV
1:161748087-161748087 T>A	1.0	4158	COLON	-	-	-	-	ATF6	uc001gbs.3,p.L46M|uc001gbq.2,p.L46M|ENST00000367942,p.L46M|NM_007348,p.L46M	protein_coding, processed_transcript	uc001gbs.3	nonsynonymous SNV	exon2	c.T136A	p.L46M	ELGYFTDTDELQLEAANETYENNFD	ELGYFTDTDELQMEAANETYENNFD	8.0	8.0	unscreened	-	4158_1:161748087-161748087 T>A_ELGYFTDTDELQMEAANETYENNFD
8:73848852-73848852 C>A	0.0	4158	COLON	-	-	-	-	KCNB2	NM_004770,p.S421Y|uc003xzb.3,p.S421Y|ENST00000523207,p.S421Y	protein_coding	uc003xzb.3	nonsynonymous SNV	exon3	c.C1262A	p.S421Y	IALPIPIIVNNFSEFYKEQKRQEKA	IALPIPIIVNNFYEFYKEQKRQEKA	6.0	10.0	-	-	4158_8:73848852-73848852 C>A_IALPIPIIVNNFYEFYKEQKRQEKA
9:127572437-127572437 C>T	0.0	4158	COLON	-	-	-	-	OLFML2A	ENST00000373580,p.R569W|uc004bov.3,p.R569W|NM_182487,p.R569W|ENST00000288815,p.R355W|NM_001282715,p.R355W|uc004bow.3,p.R355W	protein_coding	uc004bow.3	nonsynonymous SNV	exon5	c.C1063T	p.R355W	DLSVHRETTWKTRLRRNSYGNCFLV	DLSVHRETTWKTWLRRNSYGNCFLV	6.0	10.0	-	-	4158_9:127572437-127572437 C>T_DLSVHRETTWKTWLRRNSYGNCFLV
7:150783916-150783922 CTCGTCT>-	0.0	4158	COLON	-	-	-	-	AGAP3	uc003wjf.1,p.L30fs|uc010lpy.1,p.L30fs|uc003wjg.1,p.L30fs|NM_031946,p.L30fs|ENST00000473312,p.L30fs|ENST00000479901,p.L30fs|ENST00000397238,p.L30fs|NM_001042535,p.L30fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lpy.1	frameshift deletion	exon1	c.88_94del	p.L30fs	AAPGGGGAAAQQLVCGGQFGGAGPG	AAPGGGGAAAQQAAGSSAARGPGPGAAAAPRSSWPAGPPSSSRSPTPRPSGPRSSASSPCIPISTPSTT	9.0	8.0	unscreened	-	4158_7:150783916-150783922 CTCGTCT>-_AAPGGGGAAAQQAAGSSAARGPGPGAAAAPRSSWPAGPPSSSRSPTPRPSGPRSSASSPCIPISTPSTT
17:909378-909378 G>A	1.0	4158	COLON	-	-	-	-	ABR	ENST00000291107,p.P804L|NM_001092,p.P804L|NM_001256847,p.P292L|NM_021962,p.P841L|ENST00000543210,p.P292L|uc002fsd.4,p.P841L|uc010vqg.3,p.P623L|NM_001159746,p.P795L|uc002fse.4,p.P795L|uc010vqf.3,p.P292L|NM_001282149,p.P623L|ENST00000574437,p.P795L|ENST00000536794,p.P623L|uc002fsf.4,p.P378L|ENST00000544583,p.P795L|uc002fsg.4,p.P804L|ENST00000302538,p.P841L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, ambiguous_orf	uc010vqg.3	nonsynonymous SNV	exon18	c.C1868T	p.P623L	AQVQVLLYYLQHPPISFAELKRNTL	AQVQVLLYYLQHLPISFAELKRNTL	9.0	10.0	-	-	4158_17:909378-909378 G>A_AQVQVLLYYLQHLPISFAELKRNTL
7:104747645-104747646 AA>-	1.0	4158	COLON	-	-	-	-	KMT2E	ENST00000334884,p.K861fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000334884	frameshift deletion	exon20	c.2581_2582del	p.K861fs	NEYFFPRKFSRNKETHL	NEYFFPRKFSRNRDALI	10.0	7.0	unscreened	-	4158_7:104747645-104747646 AA>-_NEYFFPRKFSRNRDALI
3:129696006-129696006 C>T	0.0	4158	COLON	0.0014	-	-	-	TRH	NM_007117,p.R226W|ENST00000302649,p.R226W|uc003enc.4,p.R226W|ENST00000507066,p.R222W	protein_coding	uc003enc.4	nonsynonymous SNV	exon3	c.C676T	p.R226W	DDLSRSQGAEEKRQHPGRRAAWVRE	DDLSRSQGAEEKWQHPGRRAAWVRE	5.0	5.0	-	-	4158_3:129696006-129696006 C>T_DDLSRSQGAEEKWQHPGRRAAWVRE
15:48539631-48539631 T>C	0.0	4158	COLON	-	-	ID=COSM1265667,COSM1265666;OCCURENCE=1(oesophagus)	-	SLC12A1	uc010bem.3,p.L553P|uc001zwq.4,p.L324P|ENST00000558405,p.L553P|uc001zwr.4,p.L280P|ENST00000396577,p.L553P|uc001zwn.4,p.L553P|uc010uew.1,p.L359P|NM_001184832,p.L553P|NM_000338,p.L553P|ENST00000380993,p.L553P|ENST00000559641,p.L366P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uew.1	nonsynonymous SNV	exon12	c.T1076C	p.L359P	NNEPLRGYILTFLIAMAFILIAELN	NNEPLRGYILTFPIAMAFILIAELN	7.0	1.0	-	-	4158_15:48539631-48539631 T>C_NNEPLRGYILTFPIAMAFILIAELN
4:119216961-119216961 G>A	1.0	4158	COLON	0.0005	-	-	-	PRSS12	uc003ica.2,p.R630W|ENST00000296498,p.R630W|NM_003619,p.R630W	retained_intron, protein_coding, processed_transcript	uc003ica.2	nonsynonymous SNV	exon10	c.C1888T	p.R630W	VCGLRLLHRRQKRIIGGKNSLRGGW	VCGLRLLHRRQKWIIGGKNSLRGGW	5.0	10.0	-	-	4158_4:119216961-119216961 G>A_VCGLRLLHRRQKWIIGGKNSLRGGW
X:119388799-119388799 G>A	0.0	4158	COLON	-	-	-	-	ZBTB33	uc022cdm.1,p.R510Q|NM_001184742,p.R510Q|uc004esn.1,p.R510Q|ENST00000326624,p.R510Q|NM_006777,p.R510Q|uc010nqm.1,p.R510Q|ENST00000557385,p.R510Q	protein_coding	uc022cdm.1	nonsynonymous SNV	exon1	c.G1529A	p.R510Q	VCKRSYVCLTSLRRHFNIHSWEKKY	VCKRSYVCLTSLQRHFNIHSWEKKY	7.0	7.0	-	-	4158_X:119388799-119388799 G>A_VCKRSYVCLTSLQRHFNIHSWEKKY
12:107371917-107371918 TT>-	0.0	4158	COLON	-	-	-	-	MTERF2	uc001tmf.2,p.Q192fs|uc001tme.1,p.Q192fs|uc001tmg.2,p.Q192fs|NM_025198,p.Q192fs|NM_001033050,p.Q192fs|ENST00000240050,p.Q192fs|uc021rdh.1,p.Q192fs|ENST00000392830,p.Q192fs|ENST00000552029,p.Q192fs|uc001tmh.1,p.Q192fs	protein_coding, processed_transcript	uc021rdh.1	frameshift deletion	exon1	c.575_576del	p.Q192fs	PVEKNKQMVRILQESYLDVGGSEAN	PVEKNKQMVRILRELSRCRWL	8.0	2.0	-	-	4158_12:107371917-107371918 TT>-_PVEKNKQMVRILRELSRCRWL
11:67161010-67161010 C>T	1.0	4158	COLON	-	-	-	-	RAD9A	ENST00000544620,p.T79M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000544620	nonsynonymous SNV	exon4	c.C236T	p.T79M	GQDLLRCKILMKTVEKCCISLNGRS	GQDLLRCKILMKMVEKCCISLNGRS	9.0	5.0	-	-	4158_11:67161010-67161010 C>T_GQDLLRCKILMKMVEKCCISLNGRS
X:32841428-32841428 A>C	0.0	4158	COLON	-	-	-	-	DMD	ENST00000447523,p.I77R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000447523	nonsynonymous SNV	exon3	c.T230G	p.I77R	GNHKLTLGLIWNIILHWQVLGDRWA	GNHKLTLGLIWNRILHWQVLGDRWA	5.0	6.0	-	-	4158_X:32841428-32841428 A>C_GNHKLTLGLIWNRILHWQVLGDRWA
14:55462368-55462368 C>T	0.0	4158	COLON	-	-	-	-	WDHD1	ENST00000360586,p.R369H|ENST00000420358,p.R246H|uc001xbn.2,p.R246H|NM_001008396,p.R246H|ENST00000421192,p.R246H|NM_007086,p.R369H|uc001xbm.2,p.R369H	retained_intron, protein_coding, nonsense_mediated_decay	uc001xbn.2	nonsynonymous SNV	exon10	c.G737A	p.R246H	DEDDEDLMMASGRPRQRSHILEDDE	DEDDEDLMMASGHPRQRSHILEDDE	6.0	8.0	-	-	4158_14:55462368-55462368 C>T_DEDDEDLMMASGHPRQRSHILEDDE
17:7577124-7577124 C>T	1.0	4158	COLON	-	-	ID=COSM10891,COSM99950,COSM3388172,COSM1645249;OCCURENCE=1(endometrium),14(ovary),1(soft_tissue),16(large_intestine),2(kidney),4(pancreas),2(liver),2(urinary_tract),10(breast),6(oesophagus),1(vulva),1(bone),2(upper_aerodigestive_tract),4(stomach),6(central_nervous_system),5(haematopoietic_and_lymphoid_tissue),6(lung)	1	TP53	NM_001276761,p.V233M|uc002gih.3,p.V272M|ENST00000445888,p.V272M|NM_001126118,p.V233M|NM_001126117,p.V140M|ENST00000509690,p.V140M|ENST00000420246,p.V272M|NM_001276698,p.V113M|NM_001126114,p.V272M|uc010cng.2,p.V113M|NM_001126116,p.V140M|NM_001276699,p.V113M|uc031qyq.1,p.V233M|NM_000546,p.V272M|NM_001276760,p.V233M|NM_001126112,p.V272M|uc010cnf.2,p.V113M|ENST00000359597,p.V272M|ENST00000455263,p.V272M|NM_001276697,p.V113M|NM_001126113,p.V272M|uc002gij.3,p.V233M|NM_001276696,p.V233M|ENST00000269305,p.V272M|NM_001276695,p.V233M|NM_001126115,p.V140M|uc002gii.2,p.V113M	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon7	c.G697A	p.V233M	SSGNLLGRNSFEVRVCACPGRDRRT	SSGNLLGRNSFEMRVCACPGRDRRT	10.0	10.0	-	-	4158_17:7577124-7577124 C>T_SSGNLLGRNSFEMRVCACPGRDRRT
X:100650438-100650438 A>T	0.0	4158	COLON	-	-	-	-	RPL36A,RPL36A-HNRNPH2	ENST00000553110,p.K98M|uc004ehk.4,p.K134M|ENST00000427805,p.K134M|ENST00000471855,p.K17M|NM_021029,p.K134M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004ehk.4	nonsynonymous SNV	exon4	c.A401T	p.K134M	KRCKHFELGGDKKRKGQVIQF	KRCKHFELGGDKMRKGQVIQF	10.0	2.0	unscreened	-	4158_X:100650438-100650438 A>T_KRCKHFELGGDKMRKGQVIQF
21:26972134-26972134 G>C	1.0	4158	COLON	-	-	-	-	MRPL39	ENST00000352957,p.L189V|ENST00000307301,p.L189V|NM_080794,p.L189V|uc002ylo.3,p.L189V|uc002yln.3,p.L189V|NM_017446,p.L189V	protein_coding	uc002ylo.3	nonsynonymous SNV	exon5	c.C565G	p.L189V	GAFCYDVVLDSKLDEWMPTKENLRS	GAFCYDVVLDSKVDEWMPTKENLRS	7.0	6.0	-	-	4158_21:26972134-26972134 G>C_GAFCYDVVLDSKVDEWMPTKENLRS
16:2814041-2814041 C>T	1.0	4158	COLON	-	-	-	-	SRRM2	uc010bsu.1,p.P1075L|uc002crk.3,p.P1171L|uc002crl.1,p.P1171L|NM_016333,p.P1171L|ENST00000301740,p.P1171L|uc002crj.1,p.P1075L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bsu.1	nonsynonymous SNV	exon10	c.C3224T	p.P1075L	LETAESKEKMALPPQEDATASPPRQ	LETAESKEKMALLPQEDATASPPRQ	10.0	10.0	-	-	4158_16:2814041-2814041 C>T_LETAESKEKMALLPQEDATASPPRQ
15:75648731-75648731 C>A	0.0	4158	COLON	-	-	-	-	MAN2C1	NM_001256496,p.A834S|uc002baf.4,p.A933S|ENST00000565683,p.A950S|ENST00000563622,p.A834S|uc010bkk.4,p.A834S|uc002bah.4,p.A950S|NM_006715,p.A933S|NM_001256494,p.A950S|ENST00000267978,p.A933S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bkk.4	nonsynonymous SNV	exon22	c.G2500T	p.A834S	IQAAYSLNFPLLALPAPSPAPATSW	IQAAYSLNFPLLSLPAPSPAPATSW	10.0	1.0	unscreened	-	4158_15:75648731-75648731 C>A_IQAAYSLNFPLLSLPAPSPAPATSW
X:70354226-70354226 C>T	0.0	4158	COLON	-	-	-	1	MED12	uc004dyy.3,p.T1546M|ENST00000439750,p.T291M|ENST00000333646,p.T1546M|ENST00000374080,p.T1546M|uc010nla.3,p.T172M|ENST00000374102,p.T1546M|uc011mpq.1,p.T1546M|NM_005120,p.T1546M|uc004dza.3,p.T1393M|ENST00000430072,p.T1514M|uc004dyz.3,p.T1546M	protein_coding, processed_transcript	uc011mpq.1	nonsynonymous SNV	exon34	c.C4637T	p.T1546M	KLRLNLVGGMFDTVQRSTQQTTEWA	KLRLNLVGGMFDMVQRSTQQTTEWA	7.0	8.0	-	-	4158_X:70354226-70354226 C>T_KLRLNLVGGMFDMVQRSTQQTTEWA
14:97009182-97009182 C>A	1.0	4158	COLON	-	-	-	-	PAPOLA	NM_001293628,p.A164D|NM_001293632,p.A164D|NM_032632,p.A414D|ENST00000216277,p.A414D|NM_001293627,p.A414D|uc001yfq.3,p.A414D|uc010twv.2,p.A414D|uc010avp.3,p.A164D|uc001yfr.3,p.A414D|ENST00000392990,p.A414D|ENST00000555626,p.A164D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010twv.2	nonsynonymous SNV	exon14	c.C1241A	p.A414D	VGSLEKNEFITLAHVNPQSFPAPKE	VGSLEKNEFITLDHVNPQSFPAPKE	9.0	6.0	-	-	4158_14:97009182-97009182 C>A_VGSLEKNEFITLDHVNPQSFPAPKE
4:103808519-103808519 C>T	0.0	4158	COLON	-	rs78427719	-	-	CISD2	NM_001008388,p.H114Y|ENST00000503643,p.H124Y|uc003hwt.4,p.H114Y|ENST00000273986,p.H114Y	protein_coding, nonsense_mediated_decay	uc003hwt.4	nonsynonymous SNV	exon3	c.C340T	p.H114Y	WRSKTFPACDGSHNKHNELTGDNVG	WRSKTFPACDGSYNKHNELTGDNVG	9.0	10.0	unscreened	-	4158_4:103808519-103808519 C>T_WRSKTFPACDGSYNKHNELTGDNVG
7:119915758-119915758 C>T	0.0	4158	COLON	-	-	-	-	KCND2	uc003vjj.1,p.P358S|ENST00000331113,p.P358S|NM_012281,p.P358S	retained_intron, protein_coding	uc003vjj.1	nonsynonymous SNV	exon1	c.C1072T	p.P358S	EKGSSASKFTSIPAAFWYTIVTMTT	EKGSSASKFTSISAAFWYTIVTMTT	2.0	9.0	-	-	4158_7:119915758-119915758 C>T_EKGSSASKFTSISAAFWYTIVTMTT
19:1440056-1440056 G>A	1.0	4158	COLON	-	-	-	-	RPS15	uc002lsp.1,p.R43Q|ENST00000586686,p.R43Q|ENST00000593052,p.R50Q|NM_001018,p.R43Q|ENST00000586096,p.R43Q|ENST00000589656,p.R43Q|ENST00000233609,p.R16Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lsp.1	nonsynonymous SNV	exon3	c.G128A	p.R43Q	EQLMQLYSARQRRRLNRGLRRKQHS	EQLMQLYSARQRQRLNRGLRRKQHS	10.0	4.0	CD8	-	4158_19:1440056-1440056 G>A_EQLMQLYSARQRQRLNRGLRRKQHS
6:57013441-57013441 G>C	1.0	4158	COLON	-	-	-	-	ZNF451	ENST00000491832,p.S853T|ENST00000370706,p.S853T|NM_015555,p.S853T|uc003pdm.2,p.S853T|uc003pdk.2,p.S853T|NM_001031623,p.S853T|ENST00000357489,p.S853T|uc003pdl.4,p.S853T|uc003pdn.2,p.S853T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pdn.2	nonsynonymous SNV	exon10	c.G2558C	p.S853T	ERKLKQAINYSKSLDMEKGVENDLS	ERKLKQAINYSKTLDMEKGVENDLS	9.0	5.0	-	-	4158_6:57013441-57013441 G>C_ERKLKQAINYSKTLDMEKGVENDLS
4:69796933-69796933 ->T	0.0	4158	COLON	-	-	ID=COSM1430668;OCCURENCE=1(large_intestine)	-	UGT2A3	ENST00000420231,p.P53fs|uc003hef.2,p.P342fs|NM_024743,p.P342fs|ENST00000251566,p.P342fs	protein_coding, nonsense_mediated_decay	uc003hef.2	frameshift insertion	exon4	c.1023dupA	p.P342fs	PQKVLWRYKGKKPSTLGANTRLYDW	PQKVLWRYKGKKTIHIRSQYSAV	4.0	9.0	-	-	4158_4:69796933-69796933 ->T_PQKVLWRYKGKKTIHIRSQYSAV
X:100650438-100650438 A>T	0.0	4158	COLON	-	-	-	-	RPL36A,RPL36A-HNRNPH2	uc022cag.1,p.K134M|NM_001199973,p.K134M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022cag.1	nonsynonymous SNV	exon4	c.A401T	p.K134M	KRCKHFELGGDKKRKLHQNCIEPNL	KRCKHFELGGDKMRKLHQNCIEPNL	10.0	2.0	unscreened	-	4158_X:100650438-100650438 A>T_KRCKHFELGGDKMRKLHQNCIEPNL
19:35786711-35786711 T>C	0.0	4158	COLON	-	-	-	-	MAG	uc002nyz.2,p.V81A|NM_002361,p.V81A|NM_001199216,p.V56A|ENST00000595791,p.V81A|uc010eds.2,p.V56A|uc002nyx.2,p.V81A|ENST00000537831,p.V56A|ENST00000361922,p.V81A|NM_080600,p.V81A|ENST00000392213,p.V81A|ENST00000600291,p.V56A|uc002nyy.2,p.V81A	retained_intron, protein_coding, processed_transcript	uc010eds.2	nonsynonymous SNV	exon4	c.T167C	p.V56A	YPPVVFKSRTQVVHESFQGRSRLLG	YPPVVFKSRTQVAHESFQGRSRLLG	3.0	10.0	-	-	4158_19:35786711-35786711 T>C_YPPVVFKSRTQVAHESFQGRSRLLG
16:77465349-77465349 T>C	0.0	4158	COLON	-	-	-	-	ADAMTS18	ENST00000449265,p.K113R|ENST00000282849,p.K113R|NM_199355,p.K113R|uc002ffc.4,p.K113R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ffc.4	nonsynonymous SNV	exon3	c.A338G	p.K113R	FSAFGQELHLELKPSAILSSHFIVQ	FSAFGQELHLELRPSAILSSHFIVQ	6.0	1.0	unscreened	-	4158_16:77465349-77465349 T>C_FSAFGQELHLELRPSAILSSHFIVQ
16:75670354-75670354 G>-	1.0	4158	COLON	-	-	-	-	KARS	ENST00000319410,p.S188fs|ENST00000302445,p.S160fs|ENST00000570215,p.S188fs|uc002fer.3,p.S188fs|uc002feq.3,p.S160fs|NM_001130089,p.S188fs|NM_005548,p.S160fs	retained_intron, protein_coding, nonsense_mediated_decay	uc002fer.3	frameshift deletion	exon5	c.564delC	p.S188fs	RGEGVKLQVMANSRNYKSEEEFIHI	RGEGVKLQVMANSEIINQKKNLFILITNCVGET	10.0	8.0	-	-	4158_16:75670354-75670354 G>-_RGEGVKLQVMANSEIINQKKNLFILITNCVGET
X:32841428-32841428 A>C	0.0	4158	COLON	-	-	-	-	DMD	ENST00000357033,p.I114R|ENST00000288447,p.I106R|uc004dda.1,p.I114R|NM_004006,p.I114R|ENST00000378677,p.I110R|NM_004009,p.I110R|uc004ddb.1,p.I106R|uc004dcy.1,p.I110R|uc004ddf.3,p.I106R|NM_000109,p.I106R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004ddf.3	nonsynonymous SNV	exon5	c.T317G	p.I106R	GNHKLTLGLIWNIILHWQVKNVMKN	GNHKLTLGLIWNRILHWQVKNVMKN	5.0	6.0	-	-	4158_X:32841428-32841428 A>C_GNHKLTLGLIWNRILHWQVKNVMKN
X:43603049-43603049 G>A	0.0	4158	COLON	-	-	-	-	MAOA	NM_001270458,p.R291H|ENST00000338702,p.R424H|NM_000240,p.R424H|uc011mkw.3,p.R291H|uc004dfy.4,p.R424H|ENST00000542639,p.R291H	protein_coding, processed_transcript	uc011mkw.3	nonsynonymous SNV	exon14	c.G872A	p.R291H	PPGIMTQYGRVIRQPVGRIFFAGTE	PPGIMTQYGRVIHQPVGRIFFAGTE	7.0	8.0	unscreened	-	4158_X:43603049-43603049 G>A_PPGIMTQYGRVIHQPVGRIFFAGTE
1:237580356-237580356 C>-	0.0	4158	COLON	-	-	-	-	RYR2	ENST00000542537,p.H245fs|ENST00000360064,p.H259fs|uc001hyl.1,p.H261fs|NM_001035,p.H261fs|ENST00000366574,p.H261fs	protein_coding, processed_transcript	uc001hyl.1	frameshift deletion	exon11	c.781delC	p.H261fs	SGEHGEEQRRTVHYEGGAVSVHARS	SGEHGEEQRRTVIMKVALCLFMHVPFGD	4.0	2.0	unscreened	-	4158_1:237580356-237580356 C>-_SGEHGEEQRRTVIMKVALCLFMHVPFGD
X:63548728-63548728 C>A	0.0	4158	COLON	-	-	-	-	MTMR8	NM_017677,p.D469Y|uc004dvs.3,p.D469Y|ENST00000374852,p.D469Y	protein_coding, processed_transcript	uc004dvs.3	nonsynonymous SNV	exon12	c.G1405T	p.D469Y	HSVWPFLVQRKPDFRNPLYKGFTMY	HSVWPFLVQRKPYFRNPLYKGFTMY	6.0	1.0	unscreened	-	4158_X:63548728-63548728 C>A_HSVWPFLVQRKPYFRNPLYKGFTMY
1:186648506-186648506 C>G	0.0	4158	COLON	-	-	-	-	PTGS2	NM_000963,p.Q39H|uc001gsb.3,p.Q39H|ENST00000367468,p.Q39H|ENST00000559627,p.Q39H	protein_coding, processed_transcript, nonsense_mediated_decay	uc001gsb.3	nonsynonymous SNV	exon2	c.G117C	p.Q39H	QNRGVCMSVGFDQYKCDCTRTGFYG	QNRGVCMSVGFDHYKCDCTRTGFYG	4.0	4.0	-	-	4158_1:186648506-186648506 C>G_QNRGVCMSVGFDHYKCDCTRTGFYG
5:140871253-140871253 C>T	0.0	4158	COLON	-	-	-	-	PCDHGC5	uc003lla.2,p.R816W|NM_018929,p.R816W|ENST00000252087,p.R816W	protein_coding	uc003lla.2	nonsynonymous SNV	exon1	c.C2446T	p.R816W	EPDAIRSRSNTLRERSQQAPPNTDW	EPDAIRSRSNTLWERSQQAPPNTDW	1.0	7.0	-	-	4158_5:140871253-140871253 C>T_EPDAIRSRSNTLWERSQQAPPNTDW
1:184559906-184559906 A>T	0.0	4158	COLON	-	-	-	-	C1orf21	uc001gqv.1,p.T75S|NM_030806,p.T75S|ENST00000235307,p.T75S	protein_coding, processed_transcript, ambiguous_orf	uc001gqv.1	nonsynonymous SNV	exon4	c.A223T	p.T75S	LEKSASSNVRLKTNKEVPGLVHQPR	LEKSASSNVRLKSNKEVPGLVHQPR	7.0	5.0	-	-	4158_1:184559906-184559906 A>T_LEKSASSNVRLKSNKEVPGLVHQPR
16:56485639-56485639 G>C	1.0	4158	COLON	-	-	-	-	OGFOD1	ENST00000562150,p.V39L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000562150	nonsynonymous SNV	exon1	c.G115C	p.V39L	SDAVTEETLKKQVAEAWSRRTPFKV	SDAVTEETLKKQLAEAWSRRTPFKV	9.0	7.0	-	-	4158_16:56485639-56485639 G>C_SDAVTEETLKKQLAEAWSRRTPFKV
5:140871253-140871253 C>T	0.0	4158	COLON	-	-	-	-	PCDHGC5	uc011dbc.2,p.R816W|NM_032407,p.R816W	protein_coding	uc011dbc.2	nonsynonymous SNV	exon1	c.C2446T	p.R816W	EPDAIRSRSNTLRERSQVRGSAPPR	EPDAIRSRSNTLWERSQVRGSAPPR	1.0	7.0	-	-	4158_5:140871253-140871253 C>T_EPDAIRSRSNTLWERSQVRGSAPPR
16:56485639-56485639 G>C	1.0	4158	COLON	-	-	-	-	OGFOD1	ENST00000568397,p.V39L|uc002ejb.3,p.V39L|ENST00000565682,p.V39L|ENST00000566157,p.V39L|NM_018233,p.V39L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ejb.3	nonsynonymous SNV	exon1	c.G115C	p.V39L	SDAVTEETLKKQVAEAWSRRTPFSH	SDAVTEETLKKQLAEAWSRRTPFSH	9.0	7.0	-	-	4158_16:56485639-56485639 G>C_SDAVTEETLKKQLAEAWSRRTPFSH
7:47842823-47842823 G>T	0.0	4158	COLON	-	-	-	-	PKD1L1	uc003tny.2,p.S2649R|ENST00000289672,p.S2649R|NM_138295,p.S2649R	retained_intron, protein_coding, processed_transcript	uc003tny.2	nonsynonymous SNV	exon53	c.C7947A	p.S2649R	ASCSSMMRHSLPSIFVAGLVGALML	ASCSSMMRHSLPRIFVAGLVGALML	3.0	10.0	unscreened	-	4158_7:47842823-47842823 G>T_ASCSSMMRHSLPRIFVAGLVGALML
X:100747217-100747217 G>T	0.0	4158	COLON	-	-	-	-	ARMCX4	NM_001256155,p.G1214V|uc031tkd.1,p.G1214V|ENST00000423738,p.G1214V|uc031tkc.1,p.G1214V	protein_coding, processed_transcript, nonsense_mediated_decay	uc031tkd.1	nonsynonymous SNV	exon1	c.G3641T	p.G1214V	WAGDKASGGAWTGAENQASGGSWAL	WAGDKASGGAWTVAENQASGGSWAL	7.0	2.0	unscreened	-	4158_X:100747217-100747217 G>T_WAGDKASGGAWTVAENQASGGSWAL
16:88495539-88495539 C>G	0.0	4158	COLON	-	-	-	-	ZNF469	uc002fku.2,p.T554R|ENST00000437464,p.T554R|ENST00000565624,p.T554R|NM_001127464,p.T554R	protein_coding	uc002fku.2	nonsynonymous SNV	exon1	c.C1661G	p.T554R	GGSPALFTYNGMTDPGAQPLFFGVA	GGSPALFTYNGMRDPGAQPLFFGVA	5.0	1.0	unscreened	-	4158_16:88495539-88495539 C>G_GGSPALFTYNGMRDPGAQPLFFGVA
X:23411490-23411490 A>G	0.0	4158	COLON	-	-	-	-	PTCHD1	ENST00000379361,p.K619E|uc004dal.4,p.K619E|NM_173495,p.K619E	protein_coding	uc004dal.4	nonsynonymous SNV	exon3	c.A1855G	p.K619E	KNFTDMLRNSFLKAPQFSHFQEDII	KNFTDMLRNSFLEAPQFSHFQEDII	5.0	8.0	-	-	4158_X:23411490-23411490 A>G_KNFTDMLRNSFLEAPQFSHFQEDII
9:33566429-33566429 A>T	0.0	4158	COLON	-	-	-	-	ANKRD18B	ENST00000290943,p.Q829H|uc010mjw.2,p.Q828H|NM_001244752,p.Q828H|ENST00000357927,p.Q210H	retained_intron, protein_coding, processed_transcript	uc010mjw.2	nonsynonymous SNV	exon13	c.A2484T	p.Q828H	HMEKDMVELGKVQEYKSELDERAMQ	HMEKDMVELGKVHEYKSELDERAMQ	5.0	6.0	unscreened	-	4158_9:33566429-33566429 A>T_HMEKDMVELGKVHEYKSELDERAMQ
1:35227280-35227280 A>T	0.0	4158	COLON	-	-	-	-	GJB4	uc001bxw.4,p.D142V|NM_153212,p.D142V|uc001bxv.1,p.D142V|ENST00000339480,p.D142V	protein_coding	uc001bxw.4	nonsynonymous SNV	exon1	c.A425T	p.D142V	TYLLSLIFKAAVDAGFLYIFHRLYK	TYLLSLIFKAAVVAGFLYIFHRLYK	4.0	2.0	-	-	4158_1:35227280-35227280 A>T_TYLLSLIFKAAVVAGFLYIFHRLYK
19:35793590-35793590 G>A	0.0	4158	COLON	-	-	-	-	MAG	uc002nyx.2,p.A404T|ENST00000392213,p.A404T|NM_001199216,p.A379T|ENST00000361922,p.A404T|NM_002361,p.A404T|uc002nyz.2,p.A404T|NM_080600,p.A404T|ENST00000537831,p.A379T|uc010eds.2,p.A379T|uc002nyy.2,p.A404T	retained_intron, protein_coding, processed_transcript	uc010eds.2	nonsynonymous SNV	exon7	c.G1135A	p.A379T	CVAENQYGQRATAFNLSVEFAPVLL	CVAENQYGQRATTFNLSVEFAPVLL	3.0	3.0	-	-	4158_19:35793590-35793590 G>A_CVAENQYGQRATTFNLSVEFAPVLL
21:47848442-47848442 G>A	0.0	4158	COLON	-	-	-	-	PCNT	uc002zji.4,p.R2543H|NM_006031,p.R2543H|ENST00000359568,p.R2543H|uc002zjj.3,p.R2425H	retained_intron, protein_coding, processed_transcript	uc002zjj.3	nonsynonymous SNV	exon35	c.G7274A	p.R2425H	THLQNQEKLQHLRTALTSAEARGSQ	THLQNQEKLQHLHTALTSAEARGSQ	6.0	9.0	-	-	4158_21:47848442-47848442 G>A_THLQNQEKLQHLHTALTSAEARGSQ
9:130575554-130575554 G>A	1.0	4158	COLON	-	-	-	-	FPGS	NM_001288803,p.E453K|uc004bsh.1,p.E296K|NM_001018078,p.E429K|ENST00000393706,p.E453K|uc011mal.1,p.E453K|ENST00000373225,p.E429K|uc004bsg.1,p.E479K|NM_004957,p.E479K|ENST00000373247,p.E479K|uc004bsi.1,p.E429K	protein_coding, processed_transcript	uc011mal.1	nonsynonymous SNV	exon14	c.G1357A	p.E453K	CLEHQQHWNHLDEEQASPDLWSAPS	CLEHQQHWNHLDKEQASPDLWSAPS	10.0	4.0	-	-	4158_9:130575554-130575554 G>A_CLEHQQHWNHLDKEQASPDLWSAPS
12:25398284-25398284 C>A	1.0	4158	COLON	-	-	ID=COSM1140133,COSM520;OCCURENCE=24(skin),10(breast),24(small_intestine),17(urinary_tract),2(genital_tract),2(kidney),1(eye),5(liver),1402(pancreas),39(prostate),110(biliary_tract),4060(large_intestine),1(autonomic_ganglia),245(ovary),4(soft_tissue),102(endometrium),13(thyroid),13(peritoneum),878(lung),6(testis),8(cervix),36(haematopoietic_and_lymphoid_tissue),2(pleura),9(gastrointestinal_tract_(site_indeterminate)),1(central_nervous_system),32(stomach),2(thymus),3(upper_aerodigestive_tract),4(oesophagus)	1	KRAS	NM_033360,p.G12V|ENST00000311936,p.G12V|uc001rgp.1,p.G12V|ENST00000556131,p.G12V|ENST00000557334,p.G12V|NM_004985,p.G12V|ENST00000256078,p.G12V|uc001rgq.1,p.G12V	protein_coding	uc001rgq.1	nonsynonymous SNV	exon2	c.G35T	p.G12V	MTEYKLVVVGAGGVGKSALTIQLI	MTEYKLVVVGAVGVGKSALTIQLI	9.0	10.0	-	-	4158_12:25398284-25398284 C>A_MTEYKLVVVGAVGVGKSALTIQLI
14:21359961-21359961 C>G	0.0	4158	COLON	-	-	-	-	RNASE3	ENST00000304639,p.A39G|NM_002935,p.A39G|uc001vyj.3,p.A39G|uc021roq.1,p.A39G	protein_coding	uc021roq.1	nonsynonymous SNV	exon1	c.C116G	p.A39G	ARPPQFTRAQWFAIQHISLNPPRCT	ARPPQFTRAQWFGIQHISLNPPRCT	2.0	1.0	unscreened	-	4158_14:21359961-21359961 C>G_ARPPQFTRAQWFGIQHISLNPPRCT
20:45644820-45644820 G>T	0.0	4158	COLON	-	-	-	-	EYA2	ENST00000327619,p.S100I|ENST00000317304,p.S100I|NM_005244,p.S100I|uc010ghp.3,p.S100I|ENST00000357410,p.S100I|ENST00000458636,p.S53I|uc002xsq.3,p.S100I|uc002xsm.3,p.S100I|NM_172110,p.S100I	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ghp.3	nonsynonymous SNV	exon5	c.G299T	p.S100I	PPPAQAYGIPSYSIKTEDSLNHSPG	PPPAQAYGIPSYIIKTEDSLNHSPG	6.0	6.0	-	-	4158_20:45644820-45644820 G>T_PPPAQAYGIPSYIIKTEDSLNHSPG
16:615053-615053 G>A	0.0	4158	COLON	-	-	-	-	PRR35	NM_145270,p.E488K|ENST00000409413,p.E488K|uc002chk.3,p.E488K	protein_coding	uc002chk.3	nonsynonymous SNV	exon3	c.G1462A	p.E488K	GPQALGEAWGRPELGPVLTGGTPEP	GPQALGEAWGRPKLGPVLTGGTPEP	1.0	10.0	-	-	4158_16:615053-615053 G>A_GPQALGEAWGRPKLGPVLTGGTPEP
X:105181531-105181531 G>C	0.0	4158	COLON	-	-	-	-	NRK	ENST00000428173,p.Q1253H|uc004emd.3,p.Q1252H|uc010npc.1,p.Q920H|ENST00000243300,p.Q1252H|NM_198465,p.Q1252H	protein_coding	uc010npc.1	nonsynonymous SNV	exon22	c.G2760C	p.Q920H	DITKLIRRRPFRQIQVLEPLNLLIT	DITKLIRRRPFRHIQVLEPLNLLIT	3.0	2.0	-	-	4158_X:105181531-105181531 G>C_DITKLIRRRPFRHIQVLEPLNLLIT
1:223285703-223285703 C>T	0.0	4158	COLON	-	-	-	-	TLR5	uc001hnv.2,p.R224K|ENST00000540964,p.R224K|ENST00000342210,p.R224K|uc001hnw.2,p.R224K|uc021pjl.1,p.R224K|NM_003268,p.R224K|ENST00000366881,p.R224K	protein_coding, processed_transcript	uc021pjl.1	nonsynonymous SNV	exon1	c.G671A	p.R224K	VSVDWGKCMNPFRNMVLEILDVSGN	VSVDWGKCMNPFKNMVLEILDVSGN	5.0	10.0	-	-	4158_1:223285703-223285703 C>T_VSVDWGKCMNPFKNMVLEILDVSGN
20:7982177-7982177 G>A	0.0	4158	COLON	-	-	-	-	TMX4	uc002wmx.1,p.R102C|NM_021156,p.R102C|ENST00000246024,p.R102C	protein_coding, processed_transcript, nonsense_mediated_decay	uc002wmx.1	nonsynonymous SNV	exon3	c.C304T	p.R102C	KVDVIQEPGLSGRFFVTTLPAFFHA	KVDVIQEPGLSGCFFVTTLPAFFHA	7.0	10.0	-	-	4158_20:7982177-7982177 G>A_KVDVIQEPGLSGCFFVTTLPAFFHA
13:114503828-114503828 G>A	0.0	4158	COLON	-	-	-	-	TMEM255B	uc001vuh.3,p.C151Y|ENST00000375353,p.C151Y|NM_182614,p.C151Y	protein_coding, processed_transcript	uc001vuh.3	nonsynonymous SNV	exon6	c.G452A	p.C151Y	QTEVTCHSLDGKCQLKVRSNTCYCC	QTEVTCHSLDGKYQLKVRSNTCYCC	6.0	5.0	-	-	4158_13:114503828-114503828 G>A_QTEVTCHSLDGKYQLKVRSNTCYCC
17:56700312-56700312 G>A	0.0	4158	COLON	-	-	-	-	TEX14	uc010dcz.2,p.L105F|NM_198393,p.L105F|ENST00000240361,p.L105F|NM_031272,p.L105F|uc002iws.2,p.L105F|ENST00000389934,p.L105F|ENST00000349033,p.L105F|NM_001201457,p.L105F|uc002iwr.2,p.L105F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dcz.2	nonsynonymous SNV	exon4	c.C313T	p.L105F	VHAAAFSGNQWILSKLLDAGGDLRL	VHAAAFSGNQWIFSKLLDAGGDLRL	4.0	1.0	-	-	4158_17:56700312-56700312 G>A_VHAAAFSGNQWIFSKLLDAGGDLRL
14:21820875-21820875 C>G	0.0	4158	COLON	-	-	-	-	SUPT16H	uc001wao.2,p.G1034A|ENST00000216297,p.G1034A|NM_007192,p.G1034A	retained_intron, protein_coding, nonsense_mediated_decay	uc001wao.2	nonsynonymous SNV	exon26	c.G3101C	p.G1034A	ASVHSSGRGSNRGSRHSSAPPKKKR	ASVHSSGRGSNRASRHSSAPPKKKR	10.0	1.0	unscreened	-	4158_14:21820875-21820875 C>G_ASVHSSGRGSNRASRHSSAPPKKKR
16:31447896-31447896 G>A	0.0	4158	COLON	-	-	-	-	ZNF843	ENST00000564218,p.A92V|uc021tgw.1,p.A92V|NM_001136509,p.A92V|uc010vfm.1,p.A92V|ENST00000315678,p.A92V	protein_coding	uc021tgw.1	nonsynonymous SNV	exon1	c.C275T	p.A92V	APASPLGRSHSSAGVRQGFSGQLCC	APASPLGRSHSSVGVRQGFSGQLCC	3.0	9.0	-	-	4158_16:31447896-31447896 G>A_APASPLGRSHSSVGVRQGFSGQLCC
5:140263777-140263777 G>A	0.0	4158	COLON	-	-	-	-	PCDHA13	ENST00000409494,p.A642T|NM_031865,p.A642T|uc003lie.1,p.A642T|uc003lif.2,p.A642T|uc003lid.3,p.A642T|NM_018904,p.A642T|ENST00000289272,p.A642T	protein_coding	uc003lif.2	nonsynonymous SNV	exon1	c.G1924A	p.A642T	EISTTRPLDEVDAPHHRLLVLVKDH	EISTTRPLDEVDTPHHRLLVLVKDH	1.0	9.0	-	-	4158_5:140263777-140263777 G>A_EISTTRPLDEVDTPHHRLLVLVKDH
3:14860793-14860793 C>T	0.0	4158	COLON	-	-	-	-	FGD5	uc003bzc.3,p.P72L|NM_152536,p.P72L|ENST00000285046,p.P72L|uc011avk.2,p.P72L	retained_intron, protein_coding, processed_transcript	uc011avk.2	nonsynonymous SNV	exon1	c.C215T	p.P72L	ETDEDYIVVPRVPLREDEPKDEGSV	ETDEDYIVVPRVLLREDEPKDEGSV	7.0	6.0	unscreened	-	4158_3:14860793-14860793 C>T_ETDEDYIVVPRVLLREDEPKDEGSV
5:33937381-33937381 C>T	0.0	4158	COLON	-	-	ID=COSM1437092;OCCURENCE=1(large_intestine)	-	RXFP3	NM_016568,p.T179M|uc003jic.2,p.T179M|ENST00000330120,p.T179M	protein_coding	uc003jic.2	nonsynonymous SNV	exon1	c.C536T	p.T179M	YASVFFLTAMSVTRYHSVASALKSH	YASVFFLTAMSVMRYHSVASALKSH	1.0	5.0	-	-	4158_5:33937381-33937381 C>T_YASVFFLTAMSVMRYHSVASALKSH
6:26156744-26156744 G>T	0.0	4158	COLON	-	-	-	-	HIST1H1E	ENST00000304218,p.E42D|NM_005321,p.E42D|uc003ngq.3,p.E42D	protein_coding	uc003ngq.3	nonsynonymous SNV	exon1	c.G126T	p.E42D	AAKRKASGPPVSELITKAVAASKER	AAKRKASGPPVSDLITKAVAASKER	8.0	8.0	-	-	4158_6:26156744-26156744 G>T_AAKRKASGPPVSDLITKAVAASKER
19:56424374-56424374 C>T	0.0	4158	COLON	-	-	-	-	NLRP13	NM_176810,p.C270Y|uc010ygg.2,p.C270Y|ENST00000588751,p.C270Y|ENST00000342929,p.C270Y	protein_coding	uc010ygg.2	nonsynonymous SNV	exon5	c.G809A	p.C270Y	FQQRFSYVFYLSCHKIRYMKETTFA	FQQRFSYVFYLSYHKIRYMKETTFA	1.0	2.0	-	-	4158_19:56424374-56424374 C>T_FQQRFSYVFYLSYHKIRYMKETTFA
17:34862444-34862444 G>A	1.0	4158	COLON	-	-	-	-	MYO19	ENST00000431794,p.P550S|NM_001163735,p.P550S|ENST00000586908,p.P550S|uc010wcy.2,p.P550S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wcy.2	nonsynonymous SNV	exon19	c.C1648T	p.P550S	YHTAGLVEKNKDPIPPELTRLLQQS	YHTAGLVEKNKDSIPPELTRLLQQS	8.0	7.0	-	-	4158_17:34862444-34862444 G>A_YHTAGLVEKNKDSIPPELTRLLQQS
9:114304822-114304822 C>T	0.0	4158	COLON	-	-	-	-	ZNF483	ENST00000309235,p.S536L|NM_133464,p.S536L|uc004bff.2,p.S536L	protein_coding	uc004bff.2	nonsynonymous SNV	exon6	c.C1607T	p.S536L	KCKDCGRPFSDSSSLIQHQRIHTGE	KCKDCGRPFSDSLSLIQHQRIHTGE	7.0	8.0	-	-	4158_9:114304822-114304822 C>T_KCKDCGRPFSDSLSLIQHQRIHTGE
21:47850508-47850508 C>A	1.0	4158	COLON	-	-	-	-	PCNT	NM_006031,p.S2667R|ENST00000359568,p.S2667R|uc002zji.4,p.S2667R|uc002zjj.3,p.S2549R	retained_intron, protein_coding, processed_transcript	uc002zjj.3	nonsynonymous SNV	exon37	c.C7647A	p.S2549R	LESEQGKGRALQSQLEEEQLRHLQR	LESEQGKGRALQRQLEEEQLRHLQR	6.0	3.0	-	-	4158_21:47850508-47850508 C>A_LESEQGKGRALQRQLEEEQLRHLQR
15:51783797-51783797 G>A	0.0	4158	COLON	-	-	-	-	DMXL2	ENST00000449909,p.T1008M|NM_001174117,p.T1008M|uc010ufy.2,p.T1644M|NM_001174116,p.T1644M|NM_015263,p.T1644M|uc010bfa.3,p.T1008M|ENST00000543779,p.T1644M|uc002abf.3,p.T1644M|ENST00000251076,p.T1644M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ufy.2	nonsynonymous SNV	exon20	c.C4931T	p.T1644M	AMGIGWWVRNINTLRRCIEKVAKAS	AMGIGWWVRNINMLRRCIEKVAKAS	7.0	6.0	-	-	4158_15:51783797-51783797 G>A_AMGIGWWVRNINMLRRCIEKVAKAS
12:102071089-102071089 A>T	0.0	4158	COLON	-	-	-	-	MYBPC1	ENST00000452455,p.Y1002F|uc010svr.2,p.Y984F|NM_206819,p.Y1009F|NM_001254723,p.Y971F|uc010svt.2,p.Y972F|ENST00000545503,p.Y984F|NM_206821,p.Y984F|ENST00000441232,p.Y1002F|ENST00000392934,p.Y971F|ENST00000553190,p.Y984F|NM_001254722,p.Y958F|ENST00000547405,p.Y958F|NM_002465,p.Y1009F|ENST00000360610,p.Y1002F|ENST00000551300,p.Y885F|NM_001254720,p.Y972F|uc001tij.3,p.Y984F|uc001tii.3,p.Y1002F|ENST00000541119,p.Y972F|NM_206820,p.Y1002F|uc001tig.3,p.Y1009F|uc001til.3,p.Y27F|ENST00000536007,p.Y965F|uc001tik.3,p.Y958F|ENST00000550270,p.Y1002F|NM_001254721,p.Y965F|NM_001254719,p.Y984F|ENST00000549145,p.Y1015F|ENST00000361466,p.Y1009F|uc010svs.2,p.Y1002F|uc010svu.2,p.Y965F|ENST00000547509,p.Y970F|ENST00000361685,p.Y1009F|uc001tih.3,p.Y1009F|NM_001254718,p.Y1002F|uc010svq.2,p.Y971F	retained_intron, protein_coding, processed_transcript	uc010svu.2	nonsynonymous SNV	exon24	c.A2894T	p.Y965F	ATITELVIGNEYYFRVFSENMCGLS	ATITELVIGNEYFFRVFSENMCGLS	4.0	1.0	unscreened	-	4158_12:102071089-102071089 A>T_ATITELVIGNEYFFRVFSENMCGLS
21:26972134-26972134 G>C	1.0	4158	COLON	-	-	-	-	MRPL39	ENST00000419219,p.L179V	protein_coding	ENST00000419219	nonsynonymous SNV	exon5	c.C535G	p.L179V	VRAPEVPVLDSKLDEWMPTKENLRS	VRAPEVPVLDSKVDEWMPTKENLRS	7.0	6.0	-	-	4158_21:26972134-26972134 G>C_VRAPEVPVLDSKVDEWMPTKENLRS
11:118917337-118917337 G>A	1.0	4158	COLON	-	-	-	-	HYOU1	uc010ryu.1,p.R883W|NM_001130991,p.R925W|ENST00000525859,p.R863W|ENST00000529972,p.R863W|uc001pux.3,p.R925W|uc001puu.2,p.R925W|NM_006389,p.R925W|ENST00000404233,p.R925W|uc001put.2,p.R890W|uc010ryv.1,p.R814W	retained_intron, protein_coding, nonsense_mediated_decay	uc010ryv.1	nonsynonymous SNV	exon21	c.C2440T	p.R814W	KPRPRPKDKNGTRAEPPLNASASDQ	KPRPRPKDKNGTWAEPPLNASASDQ	9.0	9.0	-	-	4158_11:118917337-118917337 G>A_KPRPRPKDKNGTWAEPPLNASASDQ
21:43267199-43267199 C>T	0.0	4158	COLON	-	-	-	-	PRDM15	uc002yzr.1,p.E251K|ENST00000433067,p.E580K|ENST00000441787,p.E214K|ENST00000422911,p.E251K|uc002yzq.1,p.E580K|ENST00000538201,p.E214K|ENST00000449395,p.E251K|NM_022115,p.E580K|ENST00000269844,p.E580K|uc002yzp.3,p.E251K|ENST00000447207,p.E214K|uc002yzo.3,p.E251K|ENST00000398548,p.E251K|NM_001282934,p.E251K|NM_001040424,p.E251K|ENST00000447016,p.E214K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002yzr.1	nonsynonymous SNV	exon6	c.G751A	p.E251K	CSATFLELQLLNEHLLGHLEQAKSL	CSATFLELQLLNKHLLGHLEQAKSL	7.0	3.0	-	-	4158_21:43267199-43267199 C>T_CSATFLELQLLNKHLLGHLEQAKSL
2:167141136-167141136 T>C	0.0	4158	COLON	-	-	-	-	SCN9A	ENST00000375387,p.N602D|uc002udr.1,p.N472D|uc010fpl.3,p.N601D|NM_002977,p.N601D|ENST00000303354,p.N602D|ENST00000409672,p.N601D|ENST00000409435,p.N601D|ENST00000454569,p.N466D|uc002uds.1,p.N472D|uc002udt.1,p.N472D|ENST00000452182,p.N466D	retained_intron, protein_coding	uc010fpl.3	nonsynonymous SNV	exon12	c.A1801G	p.N601D	FVPHRPQERRSSNISQASRSPPMLP	FVPHRPQERRSSDISQASRSPPMLP	6.0	1.0	unscreened	-	4158_2:167141136-167141136 T>C_FVPHRPQERRSSDISQASRSPPMLP
7:150325502-150325502 C>T	0.0	4158	COLON	-	-	-	-	GIMAP6	NM_024711,p.G62S|NM_001244072,p.G132S|ENST00000328902,p.G62S|uc003whn.3,p.G62S|uc022apv.1,p.G132S|uc031szs.1,p.G84S	protein_coding	uc031szs.1	nonsynonymous SNV	exon2	c.G250A	p.G84S	GSGKSATGNSILGRDVFESKLSTRP	GSGKSATGNSILSRDVFESKLSTRP	5.0	9.0	-	-	4158_7:150325502-150325502 C>T_GSGKSATGNSILSRDVFESKLSTRP
1:237774245-237774245 G>T	0.0	4158	COLON	-	-	-	-	RYR2	NM_001035,p.D1623Y|ENST00000360064,p.D1621Y|ENST00000542537,p.D1607Y|ENST00000366574,p.D1623Y|uc001hyl.1,p.D1623Y	protein_coding, processed_transcript	uc001hyl.1	nonsynonymous SNV	exon36	c.G4867T	p.D1623Y	ISERQGWLVQCLDPLQFMSLHIPEE	ISERQGWLVQCLYPLQFMSLHIPEE	4.0	8.0	-	-	4158_1:237774245-237774245 G>T_ISERQGWLVQCLYPLQFMSLHIPEE
10:100481584-100481584 C>A	0.0	4158	COLON	-	-	-	-	HPSE2	uc001kpo.2,p.E204D|ENST00000370549,p.E204D|NM_001166244,p.E204D	protein_coding	uc001kpo.2	nonsynonymous SNV	exon4	c.G612T	p.E204D	QFSNTYSNLILTEPNNYRTMHGRAV	QFSNTYSNLILTDPNNYRTMHGRAV	2.0	7.0	-	-	4158_10:100481584-100481584 C>A_QFSNTYSNLILTDPNNYRTMHGRAV
19:47548803-47548803 T>A	0.0	4158	COLON	-	-	-	-	NPAS1	NM_002517,p.L556Q|uc002pfw.3,p.L556Q|ENST00000602212,p.L556Q|ENST00000449844,p.L556Q|uc002pfy.3,p.L556Q|ENST00000602189,p.L381Q	retained_intron, protein_coding, nonsense_mediated_decay	uc002pfy.3	nonsynonymous SNV	exon11	c.T1667A	p.L556Q	YGPAELGLVYPHLQRLGPGPALPEA	YGPAELGLVYPHQQRLGPGPALPEA	5.0	4.0	unscreened	-	4158_19:47548803-47548803 T>A_YGPAELGLVYPHQQRLGPGPALPEA
14:65289791-65289791 C>G	0.0	4158	COLON	-	-	-	-	SPTB	uc001xhu.3,p.E8Q|NM_000347,p.E8Q|ENST00000542895,p.E8Q|uc001xhr.3,p.E8Q|ENST00000556626,p.E8Q|NM_001024858,p.E8Q|ENST00000389721,p.E8Q|ENST00000389722,p.E8Q|ENST00000389720,p.E8Q|uc001xht.3,p.E8Q|uc001xhs.3,p.E8Q	retained_intron, protein_coding, processed_transcript	uc001xhu.3	nonsynonymous SNV	exon2	c.G22C	p.E8Q	MTSATEFENVGNQPPYSRIN	MTSATEFQNVGNQPPYSRIN	5.0	1.0	unscreened	-	4158_14:65289791-65289791 C>G_MTSATEFQNVGNQPPYSRIN
19:10431550-10431550 C>T	0.0	4158	COLON	-	-	-	-	RAVER1	ENST00000593136,p.G92S	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000593136	nonsynonymous SNV	exon4	c.G274A	p.G92S	PESLPEPTQPAPGQQPGGPWRWQQQ	PESLPEPTQPAPSQQPGGPWRWQQQ	5.0	5.0	-	-	4158_19:10431550-10431550 C>T_PESLPEPTQPAPSQQPGGPWRWQQQ
12:85255610-85255610 T>C	0.0	4158	COLON	-	-	-	-	SLC6A15	NM_001146335,p.E558G|NM_182767,p.E665G|uc001szv.4,p.E665G|ENST00000552192,p.E558G|uc010sul.3,p.E558G|ENST00000266682,p.E665G	protein_coding, processed_transcript	uc010sul.3	nonsynonymous SNV	exon11	c.A1673G	p.E558G	ASVTYKRGRVLKEPVNLEGDDTSLI	ASVTYKRGRVLKGPVNLEGDDTSLI	4.0	3.0	unscreened	-	4158_12:85255610-85255610 T>C_ASVTYKRGRVLKGPVNLEGDDTSLI
17:20483213-20483213 G>A	0.0	4158	COLON	-	-	-	-	CDRT15L2	uc021tsn.1,p.G53R|ENST00000399044,p.G53R|NM_001190790,p.G53R	protein_coding	uc021tsn.1	nonsynonymous SNV	exon1	c.G157A	p.G53R	VRRRTQVPQDSPGQALAGQATPEIP	VRRRTQVPQDSPRQALAGQATPEIP	1.0	10.0	-	-	4158_17:20483213-20483213 G>A_VRRRTQVPQDSPRQALAGQATPEIP
13:35644931-35644931 C>A	0.0	4158	COLON	-	-	-	2	NBEA	ENST00000310336,p.L505I|ENST00000400445,p.L505I|ENST00000379939,p.L505I|uc021ric.1,p.L505I|ENST00000540320,p.L505I|uc021rid.1,p.L505I|NM_015678,p.L505I	protein_coding, processed_transcript	uc021rid.1	nonsynonymous SNV	exon10	c.C1513A	p.L505I	IHSIGGIQVLFPLFAQLDNRQLNDS	IHSIGGIQVLFPIFAQLDNRQLNDS	5.0	4.0	unscreened	-	4158_13:35644931-35644931 C>A_IHSIGGIQVLFPIFAQLDNRQLNDS
X:128692610-128692610 G>A	0.0	4158	COLON	-	-	-	-	OCRL	ENST00000371113,p.G147E|ENST00000357121,p.G147E|uc004euq.3,p.G147E|NM_000276,p.G147E|NM_001587,p.G147E|uc004eur.3,p.G147E	protein_coding, processed_transcript	uc004eur.3	nonsynonymous SNV	exon7	c.G440A	p.G147E	KLDTKDKPSVFSGLLGFEDNFSSMN	KLDTKDKPSVFSELLGFEDNFSSMN	5.0	9.0	-	-	4158_X:128692610-128692610 G>A_KLDTKDKPSVFSELLGFEDNFSSMN
5:140725167-140725167 G>A	0.0	4158	COLON	-	-	ID=COSM1650384,COSM590190;OCCURENCE=1(lung)	-	PCDHGA3	NM_032011,p.E523K|uc011dap.2,p.E523K|ENST00000253812,p.E523K|NM_018916,p.E523K|uc003ljm.2,p.E523K	protein_coding	uc011dap.2	nonsynonymous SNV	exon1	c.G1567A	p.E523K	TGVLYALRSFDYEQFRDLKLLVTAS	TGVLYALRSFDYKQFRDLKLLVTAS	4.0	5.0	-	-	4158_5:140725167-140725167 G>A_TGVLYALRSFDYKQFRDLKLLVTAS
7:37780167-37780167 T>G	0.0	4158	COLON	-	-	-	-	GPR141	ENST00000334425,p.L58V|uc003tfm.1,p.L58V|ENST00000447769,p.L58V|NM_181791,p.L58V|ENST00000450180,p.L58V	protein_coding, processed_transcript	uc003tfm.1	nonsynonymous SNV	exon1	c.T172G	p.L58V	NTRSVTTMAVINLVVVHSVFLLTVP	NTRSVTTMAVINVVVVHSVFLLTVP	4.0	1.0	unscreened	-	4158_7:37780167-37780167 T>G_NTRSVTTMAVINVVVVHSVFLLTVP
12:122260417-122260417 C>T	0.0	4158	COLON	-	-	-	-	SETD1B	uc001ubi.3,p.P1268L|ENST00000604567,p.P1311L|uc021rfg.1,p.P1311L|ENST00000542440,p.P1268L|NM_015048,p.P1268L|ENST00000267197,p.P1268L	protein_coding	uc021rfg.1	nonsynonymous SNV	exon11	c.C3932T	p.P1311L	PERAPEHDLEVEPEPPMMLPLPLQP	PERAPEHDLEVELEPPMMLPLPLQP	6.0	10.0	-	-	4158_12:122260417-122260417 C>T_PERAPEHDLEVELEPPMMLPLPLQP
16:3406695-3406695 A>G	0.0	4158	COLON	-	-	-	-	OR2C1	ENST00000304936,p.Y252C|NM_012368,p.Y252C|uc002cuw.1,p.Y252C	protein_coding	uc002cuw.1	nonsynonymous SNV	exon1	c.A755G	p.Y252C	TCLSHLLVVFLFYGSASYGYLLPAK	TCLSHLLVVFLFCGSASYGYLLPAK	1.0	3.0	-	-	4158_16:3406695-3406695 A>G_TCLSHLLVVFLFCGSASYGYLLPAK
3:36931326-36931326 C>G	0.0	4158	COLON	-	-	-	-	TRANK1	NM_014831,p.V257L|ENST00000429976,p.V257L|uc003cgj.3,p.V257L	protein_coding, processed_transcript	uc003cgj.3	nonsynonymous SNV	exon7	c.G769C	p.V257L	LHVVAAHSPGYLVKRQTEDVQMLLR	LHVVAAHSPGYLLKRQTEDVQMLLR	5.0	3.0	-	-	4158_3:36931326-36931326 C>G_LHVVAAHSPGYLLKRQTEDVQMLLR
6:25915765-25915765 G>C	0.0	4158	COLON	-	-	-	-	SLC17A2	NM_001286123,p.D391E|uc011dkb.2,p.D391E|ENST00000265425,p.D391E|ENST00000377850,p.D391E	protein_coding	uc011dkb.2	nonsynonymous SNV	exon9	c.C1173G	p.D391E	LLILIPGTSNLCDSGFIINTLDIAP	LLILIPGTSNLCESGFIINTLDIAP	1.0	9.0	-	-	4158_6:25915765-25915765 G>C_LLILIPGTSNLCESGFIINTLDIAP
5:37221434-37221434 T>C	0.0	4158	COLON	-	-	-	-	C5orf42	uc011cpa.1,p.D913G|ENST00000508244,p.D913G|NM_023073,p.D913G|ENST00000425232,p.D913G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cpa.1	nonsynonymous SNV	exon15	c.A2738G	p.D913G	LRWSQLPVKENKDFSGAAKSHFECG	LRWSQLPVKENKGFSGAAKSHFECG	8.0	3.0	unscreened	-	4158_5:37221434-37221434 T>C_LRWSQLPVKENKGFSGAAKSHFECG
1:151378861-151378861 C>A	0.0	4158	COLON	-	-	-	-	POGZ	uc010pdb.2,p.A875S|uc021oyq.1,p.A831S|uc009wmv.2,p.A789S|NM_001194938,p.A822S|ENST00000491586,p.A840S|ENST00000368863,p.A789S|NM_001194937,p.A875S|uc001eyd.2,p.A884S|NM_145796,p.A789S|uc010pdd.2,p.A375S|NM_015100,p.A884S|ENST00000540984,p.A246S|ENST00000271715,p.A884S|ENST00000409503,p.A875S|NM_207171,p.A831S|ENST00000392723,p.A831S|uc010pdc.2,p.A822S|ENST00000531094,p.A822S|ENST00000529669,p.A284S|ENST00000361398,p.A831S|uc001eyf.2,p.A840S	retained_intron, protein_coding, nonsense_mediated_decay	uc021oyq.1	nonsynonymous SNV	exon17	c.G2491T	p.A831S	NMYPPPSFPTNKAATVKSAGATPAE	NMYPPPSFPTNKSATVKSAGATPAE	8.0	2.0	unscreened	-	4158_1:151378861-151378861 C>A_NMYPPPSFPTNKSATVKSAGATPAE
18:63548114-63548114 A>G	0.0	4158	COLON	-	-	-	-	CDH7	uc002ljz.3,p.E781G|ENST00000323011,p.E781G|NM_033646,p.E781G|NM_004361,p.E781G|ENST00000397968,p.E781G|uc002lkb.3,p.E781G	protein_coding, processed_transcript	uc002lkb.3	nonsynonymous SNV	exon12	c.A2342G	p.E781G	FKRLADMYGTGQESLYS	FKRLADMYGTGQGSLYS	5.0	8.0	unscreened	-	4158_18:63548114-63548114 A>G_FKRLADMYGTGQGSLYS
3:195505814-195505814 C>T	0.0	4158	COLON	-	-	-	2	MUC4	uc021xjp.1,p.D4213N|ENST00000477756,p.D4213N|ENST00000477086,p.D4213N|NM_018406,p.D4213N|ENST00000463781,p.D4213N|ENST00000479406,p.D4213N|ENST00000466475,p.D4213N|ENST00000475231,p.D4213N|ENST00000470451,p.D4213N|ENST00000478156,p.D4213N|ENST00000462323,p.D4213N|ENST00000480843,p.D4213N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G12637A	p.D4213N	ASTGHATPLPVTDTSSASTGHATPL	ASTGHATPLPVTNTSSASTGHATPL	5.0	1.0	unscreened	-	4158_3:195505814-195505814 C>T_ASTGHATPLPVTNTSSASTGHATPL
16:1664810-1664810 A>C	0.0	4158	COLON	-	-	-	-	CRAMP1L	ENST00000293925,p.D57A|ENST00000397412,p.D57A|uc010uvh.2,p.D57A|ENST00000436138,p.D57A|NM_020825,p.D57A	retained_intron, protein_coding	uc010uvh.2	nonsynonymous SNV	exon1	c.A170C	p.D57A	TKRDEKTPRAGADGPPAPPGAPQAP	TKRDEKTPRAGAAGPPAPPGAPQAP	6.0	1.0	unscreened	-	4158_16:1664810-1664810 A>C_TKRDEKTPRAGAAGPPAPPGAPQAP
3:97851948-97851948 T>C	0.0	4158	COLON	-	-	-	-	OR5H1	uc011bgt.2,p.M136T|NM_001005338,p.M136T|ENST00000354565,p.M136T	protein_coding	uc011bgt.2	nonsynonymous SNV	exon1	c.T407C	p.M136T	VAICKPLLYPAIMTNGLCIRLLILS	VAICKPLLYPAITTNGLCIRLLILS	1.0	9.0	-	-	4158_3:97851948-97851948 T>C_VAICKPLLYPAITTNGLCIRLLILS
7:104747645-104747646 AA>-	1.0	4158	COLON	-	-	-	-	KMT2E	uc010ljc.3,p.I960fs|NM_182931,p.I960fs|uc031syt.1,p.I960fs|ENST00000311117,p.I960fs|ENST00000334914,p.I15fs|uc003vcm.3,p.I960fs|ENST00000257745,p.I960fs|ENST00000334877,p.I960fs|NM_018682,p.I960fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031syt.1	frameshift deletion	exon19	c.2880_2881del	p.I960fs	FENISSPESSPEIKRRTYSQEGYDR	FENISSPESSPEIETHL	10.0	7.0	-	-	4158_7:104747645-104747646 AA>-_FENISSPESSPEIETHL
11:102668786-102668786 C>G	0.0	4158	COLON	-	-	-	-	MMP1	uc001phi.2,p.W13S|NM_002421,p.W13S|ENST00000315274,p.W13S	protein_coding	uc001phi.2	nonsynonymous SNV	exon1	c.G38C	p.W13S	MHSFPPLLLLLFWGVVSHSFPATLE	MHSFPPLLLLLFSGVVSHSFPATLE	4.0	8.0	-	-	4158_11:102668786-102668786 C>G_MHSFPPLLLLLFSGVVSHSFPATLE
1:173916575-173916575 T>C	0.0	4158	COLON	-	-	-	-	RC3H1	uc010pms.2,p.Y890C|NM_001300852,p.Y890C|NM_001300851,p.Y890C|ENST00000258349,p.Y890C|ENST00000367696,p.Y890C|NM_172071,p.Y890C|ENST00000367694,p.Y890C|uc010pmt.2,p.Y890C|uc001gjv.3,p.Y890C|uc001gju.4,p.Y890C|NM_001300850,p.Y890C	retained_intron, protein_coding	uc010pmt.2	nonsynonymous SNV	exon14	c.A2669G	p.Y890C	RFGAISRTSKTIYQGAGPMQAMAPQ	RFGAISRTSKTICQGAGPMQAMAPQ	7.0	5.0	-	-	4158_1:173916575-173916575 T>C_RFGAISRTSKTICQGAGPMQAMAPQ
3:44607138-44607138 G>A	0.0	4158	COLON	-	-	-	-	ZKSCAN7	ENST00000418719,p.G195R	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000418719	nonsynonymous SNV	exon3	c.G583A	p.G195R	PPYDPGTHHLPSGDFGYCGI	PPYDPGTHHLPSRDFGYCGI	4.0	5.0	-	-	4158_3:44607138-44607138 G>A_PPYDPGTHHLPSRDFGYCGI
8:24171068-24171068 T>C	0.0	4158	COLON	-	-	-	-	ADAM28	NM_021777,p.I184T|ENST00000437154,p.I184T|uc003xdx.3,p.I184T|ENST00000520448,p.I184T|uc003xdy.3,p.I184T|NM_014265,p.I184T|ENST00000265769,p.I184T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xdy.3	nonsynonymous SNV	exon6	c.T551C	p.I184T	DGVLWAHDLQQNIALPATKLVKLKD	DGVLWAHDLQQNTALPATKLVKLKD	5.0	9.0	-	-	4158_8:24171068-24171068 T>C_DGVLWAHDLQQNTALPATKLVKLKD
5:140516970-140516970 T>C	0.0	4158	COLON	-	-	-	-	PCDHB5	uc003liq.3,p.S652P|ENST00000231134,p.S652P|NM_015669,p.S652P	protein_coding	uc003liq.3	nonsynonymous SNV	exon1	c.T1954C	p.S652P	VVLVKDNGEPPRSATATLHVLLVDG	VVLVKDNGEPPRPATATLHVLLVDG	5.0	2.0	unscreened	-	4158_5:140516970-140516970 T>C_VVLVKDNGEPPRPATATLHVLLVDG
7:5540263-5540263 G>A	0.0	4158	COLON	-	-	-	-	FBXL18	ENST00000382368,p.T546M|uc003son.4,p.T546M|NM_024963,p.T546M|ENST00000415009,p.T546M|uc003soo.2,p.T546M|ENST00000453700,p.T546M	protein_coding, nonsense_mediated_decay	uc003soo.2	nonsynonymous SNV	exon3	c.C1637T	p.T546M	RHLTLAQLPSVLTGSGLVNIGLQCQ	RHLTLAQLPSVLMGSGLVNIGLQCQ	7.0	4.0	-	-	4158_7:5540263-5540263 G>A_RHLTLAQLPSVLMGSGLVNIGLQCQ
19:53856585-53856585 C>A	0.0	4158	COLON	-	-	-	-	ZNF845	uc010ydw.1,p.P886H|uc010ydv.1,p.P886H|ENST00000595091,p.P886H|NM_138374,p.P886H|ENST00000458035,p.P886H	protein_coding	uc010ydw.1	nonsynonymous SNV	exon5	c.C2657A	p.P886H	LSRHHRLHTGEKPYKCNKCGKVFNQ	LSRHHRLHTGEKHYKCNKCGKVFNQ	6.0	3.0	unscreened	-	4158_19:53856585-53856585 C>A_LSRHHRLHTGEKHYKCNKCGKVFNQ
4:155411874-155411874 G>T	0.0	4158	COLON	-	-	-	-	DCHS2	uc011cik.1,p.L212M|uc003inx.2,p.L212M|NM_001142552,p.L212M|ENST00000443500,p.L212M|ENST00000339452,p.L212M|ENST00000456341,p.L205M	protein_coding, processed_transcript	uc011cik.1	nonsynonymous SNV	exon1	c.C634A	p.L212M	STQGYTLVQPSDLPKDPAGPFFQLR	STQGYTLVQPSDMPKDPAGPFFQLR	2.0	2.0	unscreened	-	4158_4:155411874-155411874 G>T_STQGYTLVQPSDMPKDPAGPFFQLR
21:15882692-15882692 C>T	0.0	4158	COLON	-	-	ID=COSM1224642,COSM1224643;OCCURENCE=1(large_intestine)	-	SAMSN1	NM_022136,p.R167H|uc002yjv.1,p.R235H|NM_001286523,p.R98H|NM_001256370,p.R235H|ENST00000400566,p.R167H|uc002yju.2,p.R167H|ENST00000285670,p.R235H	protein_coding, processed_transcript	uc002yjv.1	nonsynonymous SNV	exon6	c.G704A	p.R235H	DDDGPYSGPFCGRARVHTDFTPSPY	DDDGPYSGPFCGHARVHTDFTPSPY	6.0	7.0	-	-	4158_21:15882692-15882692 C>T_DDDGPYSGPFCGHARVHTDFTPSPY
10:100481584-100481584 C>A	0.0	4158	COLON	-	-	-	-	HPSE2	uc009xwc.2,p.E262D|uc001kpn.2,p.E262D|NM_021828,p.E262D|ENST00000370552,p.E262D|ENST00000370546,p.E262D|NM_001166246,p.E262D	protein_coding	uc009xwc.2	nonsynonymous SNV	exon5	c.G786T	p.E262D	SKKYNISWELGNEPNNYRTMHGRAV	SKKYNISWELGNDPNNYRTMHGRAV	2.0	7.0	-	-	4158_10:100481584-100481584 C>A_SKKYNISWELGNDPNNYRTMHGRAV
17:73824916-73824916 C>T	0.0	4158	COLON	-	-	-	-	UNC13D	ENST00000412096,p.G1035S|NM_199242,p.G1035S|uc002jpp.3,p.G1035S|ENST00000207549,p.G1035S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jpp.3	nonsynonymous SNV	exon31	c.G3103A	p.G1035S	REVPGLSGSEEPGEVPQTRLPLTYP	REVPGLSGSEEPSEVPQTRLPLTYP	8.0	8.0	-	-	4158_17:73824916-73824916 C>T_REVPGLSGSEEPSEVPQTRLPLTYP
12:100452524-100452524 T>A	0.0	4158	COLON	-	-	-	-	UHRF1BP1L	uc001tgq.3,p.D844V|uc001tgp.3,p.D494V|ENST00000279907,p.D844V|ENST00000545232,p.D494V|NM_015054,p.D844V	retained_intron, protein_coding, nonsense_mediated_decay	uc001tgq.3	nonsynonymous SNV	exon14	c.A2531T	p.D844V	ESLILLSENLRKDVEAVTGSPASQT	ESLILLSENLRKVVEAVTGSPASQT	5.0	4.0	-	-	4158_12:100452524-100452524 T>A_ESLILLSENLRKVVEAVTGSPASQT
3:158983149-158983149 A>C	0.0	4158	COLON	-	-	-	-	IQCJ	ENST00000451172,p.K146T|uc010hvy.2,p.K119T|NM_001197100,p.K119T|NM_001042705,p.K146T|uc003fcp.2,p.K146T|ENST00000482126,p.K119T	protein_coding, processed_transcript	uc010hvy.2	nonsynonymous SNV	exon4	c.A356C	p.K119T	QLARPTGFIHTLKEPQIERLGFLTL	QLARPTGFIHTLTEPQIERLGFLTL	2.0	5.0	-	-	4158_3:158983149-158983149 A>C_QLARPTGFIHTLTEPQIERLGFLTL
6:56469420-56469420 T>C	0.0	4158	COLON	-	-	-	-	RNU6-71P	ENST00000361203,p.R3125G|ENST00000312431,p.R3125G|ENST00000439203,p.R2799G|ENST00000446842,p.R2799G|uc021zax.1,p.R2799G|ENST00000370769,p.R3125G|ENST00000370754,p.R3303G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zax.1	nonsynonymous SNV	exon26	c.A8395G	p.R2799G	EQQLPKEQALSPRSQEKEVQIPELS	EQQLPKEQALSPGSQEKEVQIPELS	8.0	2.0	unscreened	-	4158_6:56469420-56469420 T>C_EQQLPKEQALSPGSQEKEVQIPELS
4:155411873-155411873 A>G	0.0	4158	COLON	-	-	-	-	DCHS2	ENST00000456341,p.L205P|uc003inx.2,p.L212P|ENST00000443500,p.L212P|NM_001142552,p.L212P|ENST00000339452,p.L212P|uc011cik.1,p.L212P	protein_coding, processed_transcript	uc011cik.1	nonsynonymous SNV	exon1	c.T635C	p.L212P	STQGYTLVQPSDLPKDPAGPFFQLR	STQGYTLVQPSDPPKDPAGPFFQLR	2.0	2.0	unscreened	-	4158_4:155411873-155411873 A>G_STQGYTLVQPSDPPKDPAGPFFQLR
19:34712530-34712530 G>A	0.0	4158	COLON	-	-	-	2	LSM14A	ENST00000540746,p.G378S|uc002nva.4,p.G419S|ENST00000544216,p.G419S|uc002nvb.4,p.G419S|ENST00000433627,p.G419S|NM_001114093,p.G419S|uc010xru.2,p.G378S|uc002nvc.4,p.G225S|NM_015578,p.G419S	retained_intron, protein_coding, nonsense_mediated_decay	uc010xru.2	nonsynonymous SNV	exon8	c.G1132A	p.G378S	GGYRGRGGLGFRGGRGRGGGRGGTF	GGYRGRGGLGFRSGRGRGGGRGGTF	9.0	2.0	unscreened	-	4158_19:34712530-34712530 G>A_GGYRGRGGLGFRSGRGRGGGRGGTF
X:120008965-120008965 A>C	0.0	4158	COLON	-	-	-	-	CT47B1	ENST00000371311,p.L187R|NM_001145718,p.L187R|uc011muc.2,p.L187R	protein_coding	uc011muc.2	nonsynonymous SNV	exon1	c.T560G	p.L187R	LGAGAAAPEGEGLGLIQEAASVQEA	LGAGAAAPEGEGRGLIQEAASVQEA	1.0	3.0	unscreened	-	4158_X:120008965-120008965 A>C_LGAGAAAPEGEGRGLIQEAASVQEA
1:111061265-111061265 C>T	0.0	4158	COLON	-	-	-	-	KCNA10	ENST00000369771,p.G49R|NM_005549,p.G49R|uc001dzt.1,p.G49R	protein_coding	uc001dzt.1	nonsynonymous SNV	exon1	c.G145A	p.G49R	PKGRPGGSSFSNGKILISESTNHET	PKGRPGGSSFSNRKILISESTNHET	1.0	5.0	-	-	4158_1:111061265-111061265 C>T_PKGRPGGSSFSNRKILISESTNHET
6:116818135-116818135 ->G	0.0	4158	COLON	-	-	-	-	TRAPPC3L	uc003pww.3,p.K92fs|ENST00000437098,p.K162fs|ENST00000356128,p.K92fs|uc011ebh.2,p.K176fs|uc003pwx.3,p.K92fs|NM_001139444,p.K176fs|ENST00000368602,p.K176fs	protein_coding	uc011ebh.2	frameshift insertion	exon5	c.527_528insC	p.K176fs	IGITFLKKRDEKKYRGKK	IGITFLKKRDEKNI	6.0	4.0	-	-	4158_6:116818135-116818135 ->G_IGITFLKKRDEKNI
2:210557409-210557409 C>T	0.0	4158	COLON	-	-	-	-	MAP2	uc002vdi.1,p.A168V|ENST00000445941,p.A254V|NM_002374,p.A172V|ENST00000447185,p.A168V|uc002vdc.1,p.A172V|uc002vde.1,p.A172V|ENST00000360351,p.A172V	retained_intron, protein_coding, processed_transcript	uc002vdi.1	nonsynonymous SNV	exon4	c.C503T	p.A168V	EFHDQQELTPSTAEPSDQKEKESEK	EFHDQQELTPSTVEPSDQKEKESEK	7.0	9.0	-	-	4158_2:210557409-210557409 C>T_EFHDQQELTPSTVEPSDQKEKESEK
11:5878401-5878401 G>A	0.0	4158	COLON	-	-	-	-	OR52E8	NM_001005168,p.R178C|ENST00000537935,p.R178C|uc010qzr.2,p.R178C	protein_coding	uc010qzr.2	nonsynonymous SNV	exon1	c.C532T	p.R178C	VFLLLRLPFCGHRIIPHTYCEHMGI	VFLLLRLPFCGHCIIPHTYCEHMGI	1.0	6.0	-	-	4158_11:5878401-5878401 G>A_VFLLLRLPFCGHCIIPHTYCEHMGI
10:100481584-100481584 C>A	0.0	4158	COLON	-	-	-	-	HPSE2	ENST00000404542,p.E150D|uc009xwd.2,p.E150D|NM_001166245,p.E150D	protein_coding	uc009xwd.2	nonsynonymous SNV	exon3	c.G450T	p.E150D	PGPDYYLKNYEDEPNNYRTMHGRAV	PGPDYYLKNYEDDPNNYRTMHGRAV	2.0	7.0	-	-	4158_10:100481584-100481584 C>A_PGPDYYLKNYEDDPNNYRTMHGRAV
1:152883621-152883621 T>G	0.0	4158	COLON	-	-	-	-	IVL	ENST00000392667,p.L304V|uc021ozl.1,p.L450V|uc001fau.3,p.L450V|NM_005547,p.L450V|ENST00000368764,p.L450V	protein_coding	uc021ozl.1	nonsynonymous SNV	exon1	c.T1348G	p.L450V	GQLKHLEQQQGQLEVPEQQVGQPKN	GQLKHLEQQQGQVEVPEQQVGQPKN	2.0	3.0	unscreened	-	4158_1:152883621-152883621 T>G_GQLKHLEQQQGQVEVPEQQVGQPKN
10:70179621-70179621 C>A	0.0	4158	COLON	-	-	-	-	DNA2	NM_001080449,p.G909V|ENST00000358410,p.G909V|uc031pvh.1,p.G909V|ENST00000399180,p.G995V	retained_intron, protein_coding, nonsense_mediated_decay	uc031pvh.1	nonsynonymous SNV	exon18	c.G2726T	p.G909V	TDKVPAPEQVEKGGVSNVTEAKLIV	TDKVPAPEQVEKVGVSNVTEAKLIV	5.0	3.0	unscreened	-	4158_10:70179621-70179621 C>A_TDKVPAPEQVEKVGVSNVTEAKLIV
10:70179621-70179621 C>A	0.0	4158	COLON	-	-	-	-	DNA2	uc001jog.3,p.G671V|ENST00000551118,p.G671V|ENST00000399179,p.G671V	retained_intron, protein_coding, nonsense_mediated_decay	uc001jog.3	nonsynonymous SNV	exon14	c.G2012T	p.G671V	CTLVPAPEQVEKGGVSNVTEAKLIV	CTLVPAPEQVEKVGVSNVTEAKLIV	5.0	3.0	unscreened	-	4158_10:70179621-70179621 C>A_CTLVPAPEQVEKVGVSNVTEAKLIV
7:42005847-42005847 G>C	0.0	4158	COLON	-	-	-	-	GLI3	NM_000168,p.P942A|uc011kbh.2,p.P942A|uc011kbg.2,p.P883A|ENST00000395925,p.P942A	retained_intron, protein_coding, processed_transcript	uc011kbh.2	nonsynonymous SNV	exon15	c.C2824G	p.P942A	KAKYAAATGGPPPTPLPNMERMSLK	KAKYAAATGGPPATPLPNMERMSLK	6.0	4.0	-	-	4158_7:42005847-42005847 G>C_KAKYAAATGGPPATPLPNMERMSLK
4:134071984-134071984 G>A	0.0	4158	COLON	-	-	-	-	PCDH10	ENST00000264360,p.R230H|uc003iha.3,p.R230H|NM_020815,p.R230H|uc003igz.3,p.R230H|NM_032961,p.R230H	retained_intron, protein_coding	uc003iha.3	nonsynonymous SNV	exon1	c.G689A	p.R230H	GGGGAGLPPQQQRTGTALLTIRVLD	GGGGAGLPPQQQHTGTALLTIRVLD	5.0	6.0	-	-	4158_4:134071984-134071984 G>A_GGGGAGLPPQQQHTGTALLTIRVLD
9:69423743-69423743 A>C	0.0	4158	COLON	-	-	-	-	ANKRD20A4	ENST00000357336,p.K680T|uc004afn.3,p.K680T|NM_001098805,p.K680T	retained_intron, protein_coding	uc004afn.3	nonsynonymous SNV	exon15	c.A2039C	p.K680T	QIKFNALKDKFRKTRDSLRKKSLAL	QIKFNALKDKFRTTRDSLRKKSLAL	5.0	7.0	unscreened	-	4158_9:69423743-69423743 A>C_QIKFNALKDKFRTTRDSLRKKSLAL
15:76633485-76633485 G>A	0.0	4158	COLON	-	-	-	-	ISL2	NM_145805,p.G269E|ENST00000290759,p.G269E|uc002bbw.1,p.G269E	protein_coding, nonsense_mediated_decay	uc002bbw.1	nonsynonymous SNV	exon5	c.G806A	p.G269E	QQQQHSDKTSLQGLTGTPLVAGSPI	QQQQHSDKTSLQELTGTPLVAGSPI	3.0	6.0	-	-	4158_15:76633485-76633485 G>A_QQQQHSDKTSLQELTGTPLVAGSPI
12:60168739-60168739 G>C	0.0	4158	COLON	-	-	-	-	SLC16A7	NM_004731,p.K221N|uc001sqt.4,p.K221N|ENST00000543448,p.K122N|ENST00000552024,p.K221N|ENST00000548444,p.K106N|uc010ssi.3,p.K122N|ENST00000547379,p.K221N|NM_001270622,p.K221N|ENST00000261187,p.K221N|uc001sqs.4,p.K221N|ENST00000548610,p.K221N|uc001squ.4,p.K221N|uc009zqi.4,p.K122N|ENST00000552432,p.K221N|NM_001270623,p.K221N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ssi.3	nonsynonymous SNV	exon6	c.G366C	p.K122N	NKTGKTEDDSSPKKIKTKKSTWEKV	NKTGKTEDDSSPNKIKTKKSTWEKV	5.0	3.0	unscreened	-	4158_12:60168739-60168739 G>C_NKTGKTEDDSSPNKIKTKKSTWEKV
4:5664857-5664859 CCC>-	0.0	4158	COLON	-	-	-	-	EVC2	uc003gij.3,p.374_374del|ENST00000310917,p.294_294del|uc003gik.3,p.294_294del|ENST00000344938,p.374_374del|ENST00000509670,p.294_294del|NM_147127,p.374_374del|NM_001166136,p.294_294del|ENST00000344408,p.374_374del|ENST00000475313,p.294_294del	protein_coding, nonsense_mediated_decay	uc003gik.3	nonframeshift deletion	exon9	c.880_882del	p.294_294del	DQMIDILSSEDPGSMLQALEELEIA	DQMIDILSSEDPSMLQALEELEIAT	4.0	6.0	-	-	4158_4:5664857-5664859 CCC>-_DQMIDILSSEDPSMLQALEELEIAT
2:96048197-96048197 G>A	0.0	4158	COLON	-	-	-	-	KCNIP3	uc002sup.3,p.A210T|NM_013434,p.A210T|NM_001034914,p.A184T|ENST00000360990,p.A188T|ENST00000468529,p.A184T|uc002suq.3,p.A184T|ENST00000295225,p.A210T	retained_intron, protein_coding, processed_transcript	uc002suq.3	nonsynonymous SNV	exon6	c.G550A	p.A184T	MGRHTYPILREDAPAEHVERFFEKM	MGRHTYPILREDTPAEHVERFFEKM	3.0	4.0	-	-	4158_2:96048197-96048197 G>A_MGRHTYPILREDTPAEHVERFFEKM
12:58000277-58000277 C>T	0.0	4158	COLON	-	-	-	-	DTX3	NM_001286245,p.P2L|ENST00000549583,p.P2L|ENST00000551632,p.P2L	protein_coding	NM_001286245	nonsynonymous SNV	exon3	c.C5T	p.P2L	MPILSSSGSKMAAC	MLILSSSGSKMAAC	6.0	3.0	-	-	4158_12:58000277-58000277 C>T_MLILSSSGSKMAAC
3:44607138-44607138 G>A	0.0	4158	COLON	-	-	-	-	ZKSCAN7	uc010hin.3,p.G195R|ENST00000273320,p.G195R|uc003cnj.3,p.G195R|uc003cnk.3,p.G195R|NM_001288592,p.G45R|uc010hio.3,p.G45R|uc003cni.3,p.G195R|NM_018651,p.G195R|ENST00000431636,p.G195R|ENST00000426540,p.G195R|ENST00000447279,p.G45R|ENST00000419137,p.G30R|NM_025169,p.G195R|ENST00000341840,p.G195R|NM_001288591,p.G195R|NM_001288590,p.G195R	retained_intron, protein_coding, nonsense_mediated_decay	uc010hio.3	nonsynonymous SNV	exon2	c.G133A	p.G45R	PPYDPGTHHLPSGDFAQCTSPVPTL	PPYDPGTHHLPSRDFAQCTSPVPTL	4.0	5.0	-	-	4158_3:44607138-44607138 G>A_PPYDPGTHHLPSRDFAQCTSPVPTL
X:54784940-54784940 G>A	0.0	4158	COLON	-	-	-	-	ITIH6	ENST00000218436,p.R523C|NM_198510,p.R523C|uc004dtj.2,p.R523C	protein_coding, processed_transcript	uc004dtj.2	nonsynonymous SNV	exon8	c.C1567T	p.R523C	PGKQELGIHLAARGPKDQLLVAHHS	PGKQELGIHLAACGPKDQLLVAHHS	1.0	4.0	-	-	4158_X:54784940-54784940 G>A_PGKQELGIHLAACGPKDQLLVAHHS
21:34399432-34399432 T>G	0.0	4158	COLON	-	-	-	1	OLIG2	uc002yqx.2,p.S88A|ENST00000333337,p.S88A|uc021wil.1,p.S88A|NM_005806,p.S88A|ENST00000382357,p.S88A	protein_coding	uc021wil.1	nonsynonymous SNV	exon1	c.T262G	p.S88A	KSSSSSTSSSTSSAAASSTKKDKKQ	KSSSSSTSSSTSAAAASSTKKDKKQ	2.0	4.0	-	-	4158_21:34399432-34399432 T>G_KSSSSSTSSSTSAAAASSTKKDKKQ
19:10431550-10431550 C>T	0.0	4158	COLON	-	-	-	-	RAVER1	ENST00000585935,p.G65S	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000585935	nonsynonymous SNV	exon2	c.G193A	p.G65S	PESLPEPTQPAPGQQPGGSSKAFQL	PESLPEPTQPAPSQQPGGSSKAFQL	5.0	5.0	-	-	4158_19:10431550-10431550 C>T_PESLPEPTQPAPSQQPGGSSKAFQL
2:216916245-216916245 C>G	1.0	4160	COLON	-	-	-	-	PECR	uc002vft.3,p.G177A|NM_018441,p.G177A|ENST00000265322,p.G177A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002vft.3	nonsynonymous SNV	exon5	c.G530C	p.G177A	FPLAVHSGAARAGVYNLTKSLALEW	FPLAVHSGAARAAVYNLTKSLALEW	6.0	8.0	-	-	4160_2:216916245-216916245 C>G_FPLAVHSGAARAAVYNLTKSLALEW
20:24950962-24950962 T>G	1.0	4160	COLON	-	-	-	-	APMAP	ENST00000447138,p.K195T|uc010zsw.2,p.K195T|uc002wty.3,p.K195T|ENST00000217456,p.K195T|uc002wtz.3,p.K195T|NM_020531,p.K195T	protein_coding	uc010zsw.2	nonsynonymous SNV	exon6	c.A584C	p.K195T	KLLLSSETPIEGKNMSFVNDLTVTQ	KLLLSSETPIEGTNMSFVNDLTVTQ	10.0	1.0	CD8	-	4160_20:24950962-24950962 T>G_KLLLSSETPIEGTNMSFVNDLTVTQ
12:54393997-54393997 A>C	1.0	4160	COLON	-	-	-	-	HOXC9	ENST00000303450,p.N9H|NM_006897,p.N9H|ENST00000508190,p.N9H|uc001seq.3,p.N9H	protein_coding, processed_transcript	uc001seq.3	nonsynonymous SNV	exon1	c.A25C	p.N9H	MSATGPISNYYVDSLISHDNE	MSATGPISHYYVDSLISHDNE	7.0	4.0	-	-	4160_12:54393997-54393997 A>C_MSATGPISHYYVDSLISHDNE
1:44402248-44402252 CTCTC>-	1.0	4160	COLON	-	-	-	-	ARTN	uc001ckv.3,p.R166fs|uc001cku.3,p.R158fs|uc001ckw.3,p.R175fs|uc001cks.3,p.R158fs|uc001ckt.3,p.R166fs|ENST00000498139,p.R166fs|ENST00000372359,p.R158fs|ENST00000438616,p.R175fs|ENST00000414809,p.R166fs|NM_057090,p.R166fs|NM_001136215,p.R166fs|NM_057091,p.R158fs|ENST00000372354,p.R158fs	protein_coding	uc001ckw.3	frameshift deletion	exon2	c.525_529del	p.R175fs	RFRFCSGSCRRARSPHDLSLASLLG	RFRFCSGSCRRARTRPQPGQPTGRRGPATAPGLPARQPALLPTHALRSGLLHGRQQHLENRGPPLRHRLRLPGLRARSRALQTGPLPVALPAWDPPAESH	6.0	8.0	-	reached end of cDNA translated beyond stop codon PR	4160_1:44402248-44402252 CTCTC>-_RFRFCSGSCRRARTRPQPGQPTGRRGPATAPGLPARQPALLPTHALRSGLLHGRQQHLENRGPPLRHRLRLPGLRARSRALQTGPLPVALPAWDPPAESH
9:135917636-135917636 G>A	1.0	4160	COLON	-	-	-	-	GTF3C5	uc004cci.4,p.E106K|uc004ccj.4,p.E106K|ENST00000440319,p.E59K|ENST00000372097,p.E106K|NM_001122823,p.E106K|ENST00000342018,p.E106K|ENST00000372099,p.E97K|NM_012087,p.E106K|ENST00000372108,p.E106K	protein_coding, processed_transcript	uc004ccj.4	nonsynonymous SNV	exon2	c.G316A	p.E106K	RQKGVLGTEAHSEVTFDMEILGIIS	RQKGVLGTEAHSKVTFDMEILGIIS	10.0	7.0	-	-	4160_9:135917636-135917636 G>A_RQKGVLGTEAHSKVTFDMEILGIIS
11:72408109-72408109 A>C	1.0	4160	COLON	-	-	-	-	ARAP1	ENST00000359373,p.S1029A|ENST00000393609,p.S1029A|uc001oss.3,p.S784A|ENST00000334211,p.S784A|ENST00000429686,p.S723A|NM_001135190,p.S723A|uc010rre.2,p.S784A|uc009yth.3,p.S723A|NM_001040118,p.S1029A|uc001osu.3,p.S1029A|uc001osv.3,p.S1029A|uc001osr.3,p.S789A|ENST00000393605,p.S789A|ENST00000426523,p.S784A|ENST00000455638,p.S1029A|NM_015242,p.S784A	retained_intron, protein_coding, processed_transcript	uc010rre.2	nonsynonymous SNV	exon20	c.T2350G	p.S784A	LKEGEQHVDDVSSALKRFLRDLPDG	LKEGEQHVDDVSAALKRFLRDLPDG	9.0	1.0	-	-	4160_11:72408109-72408109 A>C_LKEGEQHVDDVSAALKRFLRDLPDG
6:30154198-30154198 C>G	1.0	4160	COLON	-	-	-	-	TRIM26	NM_003449,p.G359R|uc003nps.3,p.G359R|uc003npr.3,p.G359R|NM_001242783,p.G359R|ENST00000454678,p.G359R|uc010jry.3,p.G89R|ENST00000437089,p.G359R|ENST00000453195,p.G359R|uc003npt.3,p.G359R	retained_intron, protein_coding, processed_transcript	uc010jry.3	nonsynonymous SNV	exon9	c.G265C	p.G89R	HPQQFDCEPGVLGSKGFTWGKVYWE	HPQQFDCEPGVLRSKGFTWGKVYWE	9.0	3.0	-	-	4160_6:30154198-30154198 C>G_HPQQFDCEPGVLRSKGFTWGKVYWE
17:1386906-1386906 G>T	1.0	4160	COLON	-	-	-	-	MYO1C	uc002fso.3,p.H80Q|ENST00000438665,p.H96Q|NM_001080950,p.H96Q|uc010vqk.1,p.H91Q|ENST00000571715,p.H80Q|uc002fsp.3,p.H115Q|ENST00000573853,p.H80Q|ENST00000545534,p.H91Q|ENST00000570984,p.H80Q|ENST00000570490,p.H93Q|uc010vqj.1,p.H80Q|ENST00000359786,p.H115Q|NM_001080779,p.H115Q|uc002fsn.3,p.H96Q|ENST00000574790,p.H80Q|ENST00000361007,p.H80Q|ENST00000575158,p.H80Q|ENST00000575335,p.H80Q|NM_033375,p.H80Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vqk.1	nonsynonymous SNV	exon3	c.C273A	p.H91Q	RYRGVSFYEVPPHLFAVADTVYRAL	RYRGVSFYEVPPQLFAVADTVYRAL	9.0	4.0	-	-	4160_17:1386906-1386906 G>T_RYRGVSFYEVPPQLFAVADTVYRAL
16:88789046-88789046 C>T	1.0	4160	COLON	-	-	-	-	PIEZO1	uc010vpb.2,p.E1574K|ENST00000301015,p.E1574K|NM_001142864,p.E1574K	retained_intron, protein_coding, nonsense_mediated_decay	uc010vpb.2	nonsynonymous SNV	exon35	c.G4720A	p.E1574K	RGVLDQLYTSQAEATLPGPTEAPNA	RGVLDQLYTSQAKATLPGPTEAPNA	9.0	7.0	-	-	4160_16:88789046-88789046 C>T_RGVLDQLYTSQAKATLPGPTEAPNA
12:89993046-89993046 T>C	1.0	4160	COLON	-	-	-	-	ATP2B1	uc001tbf.3,p.K701E|ENST00000348959,p.K1031E	retained_intron, protein_coding	uc001tbf.3	nonsynonymous SNV	exon12	c.A2101G	p.K701E	VQLISTIPTSRLKFLKEAGHGTQKE	VQLISTIPTSRLEFLKEAGHGTQKE	9.0	5.0	-	-	4160_12:89993046-89993046 T>C_VQLISTIPTSRLEFLKEAGHGTQKE
12:89993046-89993046 T>C	1.0	4160	COLON	-	-	-	-	ATP2B1	NM_001001323,p.K1067E|uc001tbh.3,p.K1067E|ENST00000359142,p.K1067E|ENST00000393164,p.K810E|NM_001682,p.K1067E|ENST00000261173,p.K1067E|uc001tbg.3,p.K1067E|ENST00000428670,p.K1067E	retained_intron, protein_coding	uc001tbh.3	nonsynonymous SNV	exon19	c.A3199G	p.K1067E	GQLISTIPTSRLKFLKEAGHGTQKE	GQLISTIPTSRLEFLKEAGHGTQKE	9.0	5.0	-	-	4160_12:89993046-89993046 T>C_GQLISTIPTSRLEFLKEAGHGTQKE
11:13441097-13441097 G>A	1.0	4160	COLON	-	-	-	-	BTBD10	uc001mkz.3,p.T165M|uc010rcl.2,p.T173M|NM_001297742,p.T173M|uc010rcn.2,p.T134M|ENST00000528120,p.T117M|uc010rcm.2,p.T117M|uc009ygo.3,p.T117M|ENST00000530907,p.T173M|NM_032320,p.T165M|NM_001297741,p.T117M|ENST00000278174,p.T165M|ENST00000527102,p.T165M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rcn.2	nonsynonymous SNV	exon3	c.C401T	p.T134M	YENAKEGARNIRTSERVTLIVDNTR	YENAKEGARNIRMSERVTLIVDNTR	9.0	9.0	-	-	4160_11:13441097-13441097 G>A_YENAKEGARNIRMSERVTLIVDNTR
19:18576269-18576269 G>A	1.0	4160	COLON	-	-	-	1	ELL	ENST00000262809,p.T141M|NM_006532,p.T141M|uc002njh.3,p.T141M|uc010ebq.3,p.T84M	retained_intron, protein_coding, processed_transcript	uc010ebq.3	nonsynonymous SNV	exon5	c.C251T	p.T84M	KARQSMAQAEEETRSRSAIVIKAGG	KARQSMAQAEEEMRSRSAIVIKAGG	7.0	7.0	-	-	4160_19:18576269-18576269 G>A_KARQSMAQAEEEMRSRSAIVIKAGG
3:43121963-43121963 C>T	1.0	4160	COLON	-	-	-	-	POMGNT2	uc021wwn.1,p.V321M|NM_032806,p.V321M|uc003cmr.2,p.V321M|uc003cmq.2,p.V321M|ENST00000344697,p.V321M|ENST00000441964,p.V321M	protein_coding	uc021wwn.1	nonsynonymous SNV	exon1	c.G961A	p.V321M	ALAQEFQMKTVTVSLEDHTFADVVR	ALAQEFQMKTVTMSLEDHTFADVVR	8.0	7.0	-	-	4160_3:43121963-43121963 C>T_ALAQEFQMKTVTMSLEDHTFADVVR
22:29279984-29279988 ACACC>-	1.0	4160	COLON	-	-	-	2	ZNRF3	uc003aeg.3,p.Y77fs|NM_001206998,p.Y77fs|ENST00000544604,p.Y77fs	protein_coding	uc003aeg.3	frameshift deletion	exon1	c.230_234del	p.Y77fs	LFESSPSGDYTTYTTGLTGRFSRAG	LFESSPSGDYTTYRPHGPLLAGRGHAQRRGRDRADAPTGPM	7.0	9.0	-	-	4160_22:29279984-29279988 ACACC>-_LFESSPSGDYTTYRPHGPLLAGRGHAQRRGRDRADAPTGPM
8:56711599-56711599 A>-	1.0	4160	COLON	-	-	-	-	TGS1	uc010lyh.3,p.K461fs|NM_024831,p.K557fs|ENST00000260129,p.K557fs|uc003xsj.4,p.K557fs	retained_intron, protein_coding, nonsense_mediated_decay	uc010lyh.3	frameshift deletion	exon7	c.1381delA	p.K461fs	TSSDSEEQDMSVKKGDDLLETNNPE	TSSDSEEQDMSVKKVMTYWRLIIQNLKSVRAYLQLVNLKQKTMKETAC	7.0	5.0	-	-	4160_8:56711599-56711599 A>-_TSSDSEEQDMSVKKVMTYWRLIIQNLKSVRAYLQLVNLKQKTMKETAC
12:8212517-8212517 G>A	0.0	4160	COLON	-	-	-	-	C3AR1	uc021quj.1,p.P89S|ENST00000546241,p.P89S|ENST00000307637,p.P89S|uc001qtv.1,p.P89S|NM_004054,p.P89S	protein_coding	uc021quj.1	nonsynonymous SNV	exon1	c.C265T	p.P89S	FSLAHLALQGQWPYGRFLCKLIPSI	FSLAHLALQGQWSYGRFLCKLIPSI	7.0	6.0	-	-	4160_12:8212517-8212517 G>A_FSLAHLALQGQWSYGRFLCKLIPSI
20:57036021-57036021 C>T	1.0	4160	COLON	-	-	ID=COSM1245181;OCCURENCE=1(oesophagus),1(breast)	-	APCDD1L	ENST00000371149,p.R444H|NM_153360,p.R444H|ENST00000439429,p.R455H|uc010zzp.1,p.R455H|uc002xze.1,p.R444H	protein_coding, processed_transcript	uc010zzp.1	nonsynonymous SNV	exon5	c.G1364A	p.R455H	PTDGSSPDTPEKRPTSYQAPLVLCH	PTDGSSPDTPEKHPTSYQAPLVLCH	5.0	3.0	-	-	4160_20:57036021-57036021 C>T_PTDGSSPDTPEKHPTSYQAPLVLCH
11:8736180-8736180 C>A	1.0	4160	COLON	-	-	-	-	ST5	ENST00000530593,p.S112I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000530593	nonsynonymous SNV	exon4	c.G335T	p.S112I	RGKKRLKKLSMSSIETASLRAHTQR	RGKKRLKKLSMSIIETASLRAHTQR	8.0	4.0	-	-	4160_11:8736180-8736180 C>A_RGKKRLKKLSMSIIETASLRAHTQR
11:8736180-8736180 C>A	1.0	4160	COLON	-	-	-	-	ST5	ENST00000526757,p.S220I|NM_139157,p.S220I|NM_005418,p.S640I|ENST00000357665,p.S640I|ENST00000532734,p.S250I|ENST00000313726,p.S640I|uc001mgu.3,p.S220I|ENST00000530991,p.S112I|ENST00000526099,p.S153I|uc001mgt.3,p.S640I|uc009yfr.3,p.S220I|NM_213618,p.S640I|ENST00000534127,p.S640I|ENST00000528527,p.S112I|uc010rbp.2,p.S153I|ENST00000530438,p.S220I|ENST00000533020,p.S112I|uc001mgv.3,p.S640I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rbp.2	nonsynonymous SNV	exon4	c.G458T	p.S153I	RGKKRLKKLSMSSIETASLRDENSE	RGKKRLKKLSMSIIETASLRDENSE	8.0	4.0	-	-	4160_11:8736180-8736180 C>A_RGKKRLKKLSMSIIETASLRDENSE
19:58132004-58132004 C>A	1.0	4160	COLON	-	-	-	-	ZNF134	NM_003435,p.Q173K|uc002qpn.2,p.Q173K|ENST00000396161,p.Q173K	protein_coding, processed_transcript	uc002qpn.2	nonsynonymous SNV	exon3	c.C517A	p.Q173K	RSTESGDAFHGEQMHYKCSECGKAF	RSTESGDAFHGEKMHYKCSECGKAF	6.0	8.0	-	-	4160_19:58132004-58132004 C>A_RSTESGDAFHGEKMHYKCSECGKAF
8:136569814-136569814 G>T	1.0	4160	COLON	-	-	-	-	KHDRBS3	ENST00000355849,p.A199S|NM_006558,p.A199S|uc003yuw.3,p.A199S|ENST00000524199,p.A171S|uc003yuv.3,p.A199S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yuw.3	nonsynonymous SNV	exon5	c.G595T	p.A199S	RGKPTLRTRGVPAPAITRGRGGVTA	RGKPTLRTRGVPSPAITRGRGGVTA	8.0	6.0	-	-	4160_8:136569814-136569814 G>T_RGKPTLRTRGVPSPAITRGRGGVTA
21:47783843-47783843 G>A	1.0	4160	COLON	-	-	-	-	PCNT	uc002zjj.3,p.R750Q|uc002zji.4,p.R868Q|NM_006031,p.R868Q|ENST00000359568,p.R868Q	retained_intron, protein_coding, processed_transcript	uc002zjj.3	nonsynonymous SNV	exon14	c.G2249A	p.R750Q	VKEDCALQLMLARSRFLEERKEITE	VKEDCALQLMLAQSRFLEERKEITE	8.0	10.0	-	-	4160_21:47783843-47783843 G>A_VKEDCALQLMLAQSRFLEERKEITE
7:65557846-65557846 G>A	1.0	4160	COLON	-	-	-	-	ASL	ENST00000380839,p.V422I|ENST00000395332,p.V448I|ENST00000304874,p.V448I|uc003tuo.3,p.V448I|NM_000048,p.V448I|uc003tuq.3,p.V428I|NM_001024944,p.V428I|NM_001024943,p.V448I|ENST00000395331,p.V428I|NM_001024946,p.V422I|uc003tur.3,p.V422I|uc003tup.3,p.V448I	retained_intron, protein_coding, processed_transcript	uc003tur.3	nonsynonymous SNV	exon15	c.G1264A	p.V422I	QYGALGGTARSSVDWQIRQVRALLQ	QYGALGGTARSSIDWQIRQVRALLQ	10.0	1.0	-	-	4160_7:65557846-65557846 G>A_QYGALGGTARSSIDWQIRQVRALLQ
3:52939286-52939286 C>A	1.0	4160	COLON	-	-	-	-	SFMBT1	ENST00000394750,p.D823Y|ENST00000394752,p.D823Y|ENST00000358080,p.D823Y|uc003dgh.3,p.D823Y|NM_016329,p.D823Y	retained_intron, protein_coding, processed_transcript	uc003dgh.3	nonsynonymous SNV	exon21	c.G2467T	p.D823Y	APLARIFLDQEIDGQALLLLTLPTV	APLARIFLDQEIYGQALLLLTLPTV	7.0	1.0	-	-	4160_3:52939286-52939286 C>A_APLARIFLDQEIYGQALLLLTLPTV
14:64655312-64655312 G>C	1.0	4160	COLON	-	-	-	-	SYNE2	ENST00000555612,p.W881C|ENST00000553289,p.W504C|uc021rui.1,p.W777C|uc001xgn.3,p.W881C|ENST00000358025,p.W5919C|ENST00000357395,p.W2304C|ENST00000555002,p.W2553C|uc001xgm.3,p.W5919C|ENST00000554584,p.W5732C|uc001xgl.3,p.W5919C|ENST00000344113,p.W5919C|NM_015180,p.W5919C|NM_182914,p.W5919C|uc010apy.3,p.W2304C|uc001xgq.3,p.W284C|ENST00000394768,p.W2304C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021rui.1	nonsynonymous SNV	exon18	c.G2331C	p.W777C	IRKQEIEDRLNTWVVFNEKNKELCA	IRKQEIEDRLNTCVVFNEKNKELCA	10.0	3.0	-	-	4160_14:64655312-64655312 G>C_IRKQEIEDRLNTCVVFNEKNKELCA
3:52939286-52939286 C>A	1.0	4160	COLON	-	-	-	-	SFMBT1	uc010hmr.3,p.D727Y|ENST00000296295,p.D780Y	retained_intron, protein_coding, processed_transcript	uc010hmr.3	nonsynonymous SNV	exon17	c.G2179T	p.D727Y	DDENKPPSPKEIDGQALLLLTLPTV	DDENKPPSPKEIYGQALLLLTLPTV	7.0	1.0	-	-	4160_3:52939286-52939286 C>A_DDENKPPSPKEIYGQALLLLTLPTV
10:30749736-30749736 C>T	0.0	4160	COLON	-	-	-	-	MAP3K8	NM_001244134,p.R459W|uc001ivj.2,p.R459W|NM_005204,p.R459W|ENST00000542547,p.R459W|ENST00000263056,p.R459W|uc009xlf.2,p.R459W|ENST00000375321,p.R459W|uc001ivi.2,p.R459W	protein_coding	uc009xlf.2	nonsynonymous SNV	exon8	c.C1375T	p.R459W	DLGALAGYFNLVRGPPTLEYG	DLGALAGYFNLVWGPPTLEYG	7.0	7.0	-	-	4160_10:30749736-30749736 C>T_DLGALAGYFNLVWGPPTLEYG
8:121292252-121292252 G>A	0.0	4160	COLON	-	-	-	-	COL14A1	uc003yox.4,p.R1187H|ENST00000309791,p.R1187H|NM_021110,p.R1187H|ENST00000247781,p.R1092H|uc003yoz.3,p.R152H|ENST00000297848,p.R1187H	protein_coding, processed_transcript, nonsense_mediated_decay	uc003yoz.3	nonsynonymous SNV	exon4	c.G455A	p.R152H	SELVSIGSKPSARHVFFVDDFDAFK	SELVSIGSKPSAHHVFFVDDFDAFK	6.0	9.0	-	-	4160_8:121292252-121292252 G>A_SELVSIGSKPSAHHVFFVDDFDAFK
2:129026026-129026026 A>G	1.0	4160	COLON	-	-	-	-	HS6ST1	uc002tpt.4,p.F316L|NM_004807,p.F316L|ENST00000259241,p.F316L	protein_coding, processed_transcript	uc002tpt.4	nonsynonymous SNV	exon2	c.T946C	p.F316L	FERTFNLKFIRPFMQYNSTRAGGVE	FERTFNLKFIRPLMQYNSTRAGGVE	7.0	5.0	-	-	4160_2:129026026-129026026 A>G_FERTFNLKFIRPLMQYNSTRAGGVE
2:182387055-182387055 A>C	0.0	4160	COLON	-	-	-	-	ITGA4	uc002unu.3,p.K687T|uc010frj.1,p.K169T|ENST00000397033,p.K687T|NM_000885,p.K687T	retained_intron, protein_coding, processed_transcript	uc010frj.1	nonsynonymous SNV	exon4	c.A506C	p.K169T	LHVKLPVGLYFIKILELEEKQINCE	LHVKLPVGLYFITILELEEKQINCE	6.0	3.0	-	-	4160_2:182387055-182387055 A>C_LHVKLPVGLYFITILELEEKQINCE
17:56440739-56440739 G>A	1.0	4160	COLON	-	-	-	1	RNF43	uc002iwf.3,p.P160L|uc002iwh.4,p.P160L|uc002iwg.4,p.P160L|uc010dcw.3,p.P33L|ENST00000407977,p.P160L|ENST00000581868,p.P33L|ENST00000583753,p.P119L|NM_017763,p.P160L|ENST00000500597,p.P119L|uc010wnv.2,p.P119L|ENST00000577625,p.P33L|ENST00000584437,p.P160L|ENST00000577716,p.P160L	retained_intron, protein_coding, processed_transcript	uc010wnv.2	nonsynonymous SNV	exon3	c.C356T	p.P119L	AEQLQQPLGLTWPVVLIWGNDAEKL	AEQLQQPLGLTWLVVLIWGNDAEKL	10.0	10.0	-	-	4160_17:56440739-56440739 G>A_AEQLQQPLGLTWLVVLIWGNDAEKL
17:67119536-67119536 C>T	0.0	4160	COLON	-	-	-	-	ABCA6	NM_080284,p.R427H|ENST00000284425,p.R427H|uc002jhw.1,p.R427H	retained_intron, protein_coding, processed_transcript	uc002jhw.1	nonsynonymous SNV	exon10	c.G1280A	p.R427H	LYFDKILPYGDERHYSPLFFLNSSS	LYFDKILPYGDEHHYSPLFFLNSSS	5.0	10.0	-	-	4160_17:67119536-67119536 C>T_LYFDKILPYGDEHHYSPLFFLNSSS
4:113571737-113571737 G>C	1.0	4160	COLON	-	-	-	-	LARP7	uc003ibb.4,p.R472P|uc003iay.4,p.R472P|ENST00000513553,p.R140P|uc003iba.4,p.R393P|ENST00000324052,p.R472P|NM_015454,p.R472P|uc003iaz.4,p.R479P|NM_001267039,p.R479P|ENST00000509061,p.R479P|NM_016648,p.R472P|ENST00000344442,p.R472P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ibb.4	nonsynonymous SNV	exon10	c.G1415C	p.R472P	ISTEPLPGRKQVRDTLAAISEVLYV	ISTEPLPGRKQVPDTLAAISEVLYV	10.0	9.0	-	-	4160_4:113571737-113571737 G>C_ISTEPLPGRKQVPDTLAAISEVLYV
7:44151591-44151591 C>G	0.0	4160	COLON	-	-	-	-	AEBP1	uc003tkc.5,p.T235R|NM_001129,p.T660R|uc003tkb.4,p.T660R|ENST00000450684,p.T235R|ENST00000223357,p.T660R	protein_coding, processed_transcript, nonsense_mediated_decay	uc003tkc.5	nonsynonymous SNV	exon3	c.C704G	p.T235R	DGNPRVRSLVQDTRIHLVPSLNPDG	DGNPRVRSLVQDRRIHLVPSLNPDG	9.0	2.0	-	-	4160_7:44151591-44151591 C>G_DGNPRVRSLVQDRRIHLVPSLNPDG
9:113261477-113261477 T>C	0.0	4160	COLON	-	-	-	-	SVEP1	uc004beu.2,p.I509V|NM_153366,p.I509V|ENST00000401783,p.I509V|ENST00000374469,p.I486V|ENST00000302728,p.I509V|uc010mua.1,p.I509V|uc010mtz.3,p.I509V|ENST00000374461,p.I486V	protein_coding, processed_transcript	uc010mua.1	nonsynonymous SNV	exon7	c.A1525G	p.I509V	HCSTFQMPKDVIISPHNCGKQPAKF	HCSTFQMPKDVIVSPHNCGKQPAKF	6.0	8.0	-	Snp within 36 nucleotides, 9:113261483-113261483 C>T, residue 11 V>I PR	4160_9:113261477-113261477 T>C_HCSTFQMPKDVIVSPHNCGKQPAKF
2:190541569-190541569 C>A	0.0	4160	COLON	-	-	-	-	ANKAR	uc002uqv.1,p.P118H|uc002uqw.2,p.P118H|ENST00000520309,p.P118H|ENST00000431575,p.P47H|NM_144708,p.P118H|ENST00000438402,p.P118H|ENST00000433782,p.P47H|ENST00000313581,p.P118H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002uqw.2	nonsynonymous SNV	exon2	c.C353A	p.P118H	ELAIGIYCLNQIPSISLEANYDQSS	ELAIGIYCLNQIHSISLEANYDQSS	6.0	8.0	-	-	4160_2:190541569-190541569 C>A_ELAIGIYCLNQIHSISLEANYDQSS
2:37246988-37246988 T>G	1.0	4160	COLON	-	-	-	-	HEATR5B	uc002rpp.1,p.Q1356H|ENST00000354531,p.Q1356H|NM_019024,p.Q1356H|ENST00000233099,p.Q1356H	retained_intron, protein_coding	uc002rpp.1	nonsynonymous SNV	exon26	c.A4068C	p.Q1356H	ANVGAALRPAFSQDTPSDIIAKACQ	ANVGAALRPAFSHDTPSDIIAKACQ	7.0	2.0	-	-	4160_2:37246988-37246988 T>G_ANVGAALRPAFSHDTPSDIIAKACQ
4:166976412-166976412 A>C	0.0	4160	COLON	-	-	-	-	TLL1	uc011cjo.2,p.N394T|ENST00000507499,p.N593T|NM_012464,p.N570T|uc003irh.2,p.N570T|uc011cjn.2,p.N593T|ENST00000061240,p.N570T	protein_coding, nonsense_mediated_decay	uc011cjo.2	nonsynonymous SNV	exon13	c.A1181C	p.N394T	SDGTVNKAGFAANFFKEEDECAKPD	SDGTVNKAGFAATFFKEEDECAKPD	1.0	10.0	-	-	4160_4:166976412-166976412 A>C_SDGTVNKAGFAATFFKEEDECAKPD
12:89996909-89996909 G>A	0.0	4160	COLON	-	-	ID=COSM3772747,COSM3772746;OCCURENCE=1(pancreas)	-	ATP2B1	NM_001682,p.R991W|ENST00000348959,p.R991W|ENST00000359142,p.R991W|NM_001001323,p.R991W|ENST00000428670,p.R991W|uc001tbh.3,p.R991W|ENST00000393164,p.R734W|uc001tbg.3,p.R991W|ENST00000261173,p.R991W|uc001tbf.3,p.R661W	retained_intron, protein_coding	uc001tbh.3	nonsynonymous SNV	exon17	c.C2971T	p.R991W	FVLMQLFNEINARKIHGERNVFEGI	FVLMQLFNEINAWKIHGERNVFEGI	9.0	7.0	-	-	4160_12:89996909-89996909 G>A_FVLMQLFNEINAWKIHGERNVFEGI
3:52433070-52433070 C>G	1.0	4160	COLON	-	-	-	-	DNAH1	ENST00000420323,p.D4098E|uc003ddv.3,p.D956E|uc011bef.2,p.D4098E|NM_015512,p.D4098E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bef.2	nonsynonymous SNV	exon76	c.C12294G	p.D4098E	LSSWVMDLLQRLDFLQAWIQDGIPA	LSSWVMDLLQRLEFLQAWIQDGIPA	7.0	6.0	-	-	4160_3:52433070-52433070 C>G_LSSWVMDLLQRLEFLQAWIQDGIPA
20:33028082-33028082 C>T	1.0	4160	COLON	-	-	-	-	ITCH	NM_001257137,p.L309F|ENST00000535650,p.L158F|NM_001257138,p.L158F|uc002xak.3,p.L268F|NM_031483,p.L268F|ENST00000374864,p.L268F|uc010geu.2,p.L309F|ENST00000262650,p.L309F|uc010zuj.2,p.L158F	protein_coding, processed_transcript	uc010zuj.2	nonsynonymous SNV	exon8	c.C472T	p.L158F	TSEGATSGLIIPLTISGGSGPRPLN	TSEGATSGLIIPFTISGGSGPRPLN	9.0	6.0	-	-	4160_20:33028082-33028082 C>T_TSEGATSGLIIPFTISGGSGPRPLN
5:140594228-140594228 A>G	1.0	4160	COLON	-	-	-	-	PCDHB13	uc003lja.1,p.Y178C|ENST00000341948,p.Y178C|NM_018933,p.Y178C	protein_coding	uc003lja.1	nonsynonymous SNV	exon1	c.A533G	p.Y178C	NNIENYIISPNSYFRVLTRKRSDGR	NNIENYIISPNSCFRVLTRKRSDGR	4.0	9.0	-	-	4160_5:140594228-140594228 A>G_NNIENYIISPNSCFRVLTRKRSDGR
17:7577120-7577120 C>T	1.0	4160	COLON	0.0005	-	ID=COSM99729,COSM1645335,COSM3356963,COSM10660;OCCURENCE=1(vulva),32(oesophagus),44(upper_aerodigestive_tract),4(bone),1(thymus),45(central_nervous_system),22(stomach),1(cervix),27(haematopoietic_and_lymphoid_tissue),42(lung),4(penis),8(endometrium),57(ovary),1(soft_tissue),1(fallopian_tube),5(biliary_tract),144(large_intestine),19(urinary_tract),2(genital_tract),4(liver),25(pancreas),70(breast),8(skin)	1	TP53	uc002gij.3,p.R234H|NM_001276761,p.R234H|NM_001126118,p.R234H|NM_000546,p.R273H|ENST00000455263,p.R273H|uc002gii.2,p.R114H|NM_001276698,p.R114H|ENST00000509690,p.R141H|NM_001276697,p.R114H|NM_001276695,p.R234H|NM_001126115,p.R141H|ENST00000445888,p.R273H|NM_001126116,p.R141H|ENST00000420246,p.R273H|ENST00000359597,p.R273H|NM_001126117,p.R141H|NM_001276696,p.R234H|uc002gih.3,p.R273H|NM_001126114,p.R273H|uc010cng.2,p.R114H|NM_001276699,p.R114H|ENST00000269305,p.R273H|NM_001126112,p.R273H|NM_001126113,p.R273H|NM_001276760,p.R234H|uc031qyq.1,p.R234H|uc010cnf.2,p.R114H	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon7	c.G701A	p.R234H	SGNLLGRNSFEVRVCACPGRDRRTE	SGNLLGRNSFEVHVCACPGRDRRTE	10.0	10.0	-	-	4160_17:7577120-7577120 C>T_SGNLLGRNSFEVHVCACPGRDRRTE
9:117848829-117848829 C>A	0.0	4160	COLON	-	-	-	2	TNC	ENST00000346706,p.C394F|uc010mvf.3,p.C394F|ENST00000423613,p.C394F|ENST00000340094,p.C394F|uc022bmj.1,p.C394F|ENST00000542877,p.C394F|NM_002160,p.C394F|ENST00000350763,p.C394F|ENST00000537320,p.C394F|ENST00000535648,p.C394F|ENST00000341037,p.C394F|uc004bjj.4,p.C394F|ENST00000345230,p.C394F	protein_coding, processed_transcript	uc022bmj.1	nonsynonymous SNV	exon2	c.G1181T	p.C394F	HNRGRCVDGRCECDDGFTGADCGEL	HNRGRCVDGRCEFDDGFTGADCGEL	10.0	3.0	-	-	4160_9:117848829-117848829 C>A_HNRGRCVDGRCEFDDGFTGADCGEL
22:31884694-31884696 CTC>-	1.0	4160	COLON	-	-	-	-	EIF4ENIF1	ENST00000397523,p.3_4del|uc003alc.1,p.3_4del|NM_001164501,p.3_4del|ENST00000330125,p.3_4del|uc003alb.2,p.3_4del|NM_001164502,p.3_4del|ENST00000397525,p.3_4del|ENST00000344710,p.3_4del|NM_019843,p.3_4del|uc003ala.2,p.3_4del|uc003akz.2,p.3_4del	retained_intron, protein_coding, nonsense_mediated_decay	uc003alc.1	nonframeshift deletion	exon2	c.9_11del	p.3_4del	MDRRSMGETESGDAF	MDRSMGETESGDAFL	8.0	9.0	-	-	4160_22:31884694-31884696 CTC>-_MDRSMGETESGDAFL
19:50912441-50912441 G>A	1.0	4160	COLON	-	-	-	1	POLD1	uc002psc.5,p.R652Q|ENST00000599857,p.R652Q|ENST00000600859,p.R652Q|ENST00000440232,p.R652Q|uc010eny.4,p.R678Q|ENST00000595904,p.R678Q|uc002psb.5,p.R652Q|NM_002691,p.R652Q|NM_001256849,p.R652Q	retained_intron, protein_coding, nonsense_mediated_decay	uc010eny.4	nonsynonymous SNV	exon15	c.G2033A	p.R678Q	TPTGDEFVKTSVRKGLLPQILENLL	TPTGDEFVKTSVQKGLLPQILENLL	9.0	7.0	-	-	4160_19:50912441-50912441 G>A_TPTGDEFVKTSVQKGLLPQILENLL
8:8175942-8175942 C>A	1.0	4160	COLON	-	-	-	-	SGK223	uc003wsh.4,p.G1315C|ENST00000520004,p.G1315C|ENST00000330777,p.G1315C	protein_coding	uc003wsh.4	nonsynonymous SNV	exon5	c.G3943T	p.G1315C	LLEADPIKRIRIGEAKRVLQCLLWG	LLEADPIKRIRICEAKRVLQCLLWG	7.0	10.0	-	-	4160_8:8175942-8175942 C>A_LLEADPIKRIRICEAKRVLQCLLWG
1:236720535-236720535 G>A	1.0	4160	COLON	0.0023	-	-	-	HEATR1	uc009xgh.2,p.P934L|uc001hyd.2,p.P1772L|NM_018072,p.P1772L|ENST00000366582,p.P1772L|ENST00000366581,p.P1691L	protein_coding, processed_transcript	uc009xgh.2	nonsynonymous SNV	exon19	c.C2801T	p.P934L	ALAALQKVVETLPHFISPYLEGILS	ALAALQKVVETLLHFISPYLEGILS	7.0	5.0	-	-	4160_1:236720535-236720535 G>A_ALAALQKVVETLLHFISPYLEGILS
7:100285169-100285169 ->G	1.0	4160	COLON	-	-	-	-	GIGYF1	ENST00000275732,p.L111fs|uc003uwg.1,p.L111fs|NM_022574,p.L111fs	retained_intron, protein_coding, processed_transcript	uc003uwg.1	frameshift insertion	exon4	c.331dupC	p.L111fs	VLRLMGKGAGPPLAGTSRGRGSTRS	VLRLMGKGAGPPPGWHLPRQGQHAEPRPRPW	8.0	1.0	-	-	4160_7:100285169-100285169 ->G_VLRLMGKGAGPPPGWHLPRQGQHAEPRPRPW
9:94538025-94538025 T>C	0.0	4160	COLON	-	-	-	-	ROR2	ENST00000375708,p.K58R|uc004ark.3,p.K58R|uc004arj.2,p.K58R|NM_004560,p.K58R	retained_intron, protein_coding, processed_transcript	uc004ark.3	nonsynonymous SNV	exon2	c.A173G	p.K58R	PLDGQDGPIPTLKGYFLNFLEPVNN	PLDGQDGPIPTLRGYFLNFLEPVNN	5.0	4.0	-	-	4160_9:94538025-94538025 T>C_PLDGQDGPIPTLRGYFLNFLEPVNN
15:89388873-89388873 G>A	0.0	4160	COLON	-	-	-	-	ACAN	ENST00000352105,p.V397M|NM_013227,p.V397M|ENST00000439576,p.V397M|ENST00000561243,p.V397M|NM_001135,p.V397M|ENST00000559004,p.V397M|uc010upp.1,p.V397M|ENST00000558207,p.V397M|uc010upo.1,p.V397M|uc002bmx.3,p.V397M	retained_intron, protein_coding	uc010upp.1	nonsynonymous SNV	exon7	c.G1189A	p.V397M	PRNITEGEARGSVILTVKPIFEVSP	PRNITEGEARGSMILTVKPIFEVSP	7.0	9.0	-	-	4160_15:89388873-89388873 G>A_PRNITEGEARGSMILTVKPIFEVSP
3:113098349-113098349 T>A	1.0	4160	COLON	-	-	-	-	CFAP44	uc003eae.2,p.K701I|uc003ead.2,p.K701I|ENST00000295868,p.K701I|ENST00000393845,p.K701I|NM_001164496,p.K701I|NM_018338,p.K701I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003eae.2	nonsynonymous SNV	exon17	c.A2102T	p.K701I	IEKRERQRELKEKIREERRNKLAAE	IEKRERQRELKEIIREERRNKLAAE	6.0	7.0	-	-	4160_3:113098349-113098349 T>A_IEKRERQRELKEIIREERRNKLAAE
6:29342384-29342384 G>C	0.0	4160	COLON	-	-	-	-	OR12D3	uc003nme.3,p.N227K|NM_030959,p.N227K|ENST00000396806,p.N227K	protein_coding	uc003nme.3	nonsynonymous SNV	exon1	c.C681G	p.N227K	SCFYVIGFLLFKNRSCRILHKALST	SCFYVIGFLLFKKRSCRILHKALST	1.0	6.0	-	-	4160_6:29342384-29342384 G>C_SCFYVIGFLLFKKRSCRILHKALST
4:54179867-54179867 C>A	1.0	4160	COLON	-	-	-	-	SCFD2	ENST00000401642,p.M357I|uc010igm.3,p.M357I|NM_152540,p.M357I|ENST00000388940,p.M357I|uc003gzu.3,p.M357I	protein_coding	uc010igm.3	nonsynonymous SNV	exon3	c.G1071T	p.M357I	EALLNTKHKEAVMEVRRHLVEAASR	EALLNTKHKEAVIEVRRHLVEAASR	6.0	9.0	-	-	4160_4:54179867-54179867 C>A_EALLNTKHKEAVIEVRRHLVEAASR
20:30659556-30659556 G>A	0.0	4160	COLON	-	-	-	-	HCK	NM_001172129,p.V31M|ENST00000375852,p.V52M|NM_002110,p.V52M|NM_001172132,p.V32M|NM_001172130,p.V52M|uc002wxh.3,p.V52M|ENST00000534862,p.V32M|ENST00000520553,p.V31M|uc010gdy.3,p.V32M|NM_001172133,p.V31M|uc021wbv.1,p.V31M|NM_001172131,p.V31M|ENST00000518730,p.V31M|ENST00000375862,p.V52M|ENST00000538448,p.V31M|uc002wxi.3,p.V31M	retained_intron, protein_coding, nonsense_mediated_decay	uc021wbv.1	nonsynonymous SNV	exon3	c.G91A	p.V31M	TETSASPHCPVYVPDPTSTIKPGPN	TETSASPHCPVYMPDPTSTIKPGPN	7.0	4.0	-	-	4160_20:30659556-30659556 G>A_TETSASPHCPVYMPDPTSTIKPGPN
11:55681668-55681668 G>A	0.0	4160	COLON	-	-	-	-	OR5W2	uc010rir.2,p.L131F|ENST00000344514,p.L131F|NM_001001960,p.L131F	protein_coding	uc010rir.2	nonsynonymous SNV	exon1	c.C391T	p.L131F	AFDRYKAIINPLLYTVNMSSRVCYL	AFDRYKAIINPLFYTVNMSSRVCYL	1.0	2.0	-	-	4160_11:55681668-55681668 G>A_AFDRYKAIINPLFYTVNMSSRVCYL
5:110814181-110814181 A>C	0.0	4160	COLON	-	-	-	-	CAMK4	NM_001744,p.E268D|ENST00000282356,p.E268D|uc003kpf.3,p.E268D|uc010jbv.3,p.E71D|ENST00000512453,p.E268D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jbv.3	nonsynonymous SNV	exon7	c.A213C	p.E71D	NCEYYFISPWWDEVSLNAKDLVRKL	NCEYYFISPWWDDVSLNAKDLVRKL	3.0	3.0	unscreened	-	4160_5:110814181-110814181 A>C_NCEYYFISPWWDDVSLNAKDLVRKL
17:13504388-13504388 C>A	0.0	4160	COLON	-	-	-	-	HS3ST3A1	uc002gob.1,p.S20I|ENST00000284110,p.S20I|NM_006042,p.S20I	protein_coding	uc002gob.1	nonsynonymous SNV	exon1	c.G59T	p.S20I	SALSTSAEPLSRSIFRKFLLMLCSL	SALSTSAEPLSRIIFRKFLLMLCSL	3.0	10.0	-	-	4160_17:13504388-13504388 C>A_SALSTSAEPLSRIIFRKFLLMLCSL
2:141356285-141356285 A>C	0.0	4160	COLON	-	-	-	1	LRP1B	NM_018557,p.I2370S|uc002tvj.1,p.I2370S|ENST00000389484,p.I2370S	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon43	c.T7109G	p.I2370S	VSTDILTPNGLTIDYRAEKLYFSDG	VSTDILTPNGLTSDYRAEKLYFSDG	2.0	5.0	-	-	4160_2:141356285-141356285 A>C_VSTDILTPNGLTSDYRAEKLYFSDG
20:44663671-44663671 C>T	0.0	4160	COLON	-	-	-	-	SLC12A5	ENST00000243964,p.A46V|uc031rts.1,p.A46V|uc002xrb.2,p.A46V|ENST00000539566,p.A46V|uc002xra.3,p.A46V|ENST00000454036,p.A69V|uc010zxl.1,p.A69V|uc031rtr.1,p.A46V|ENST00000372315,p.A46V|NM_001134771,p.A69V|NM_020708,p.A46V	protein_coding	uc031rts.1	nonsynonymous SNV	exon2	c.C137T	p.A46V	TEKGKEYDGKNMALFEEEMDTSPMV	TEKGKEYDGKNMVLFEEEMDTSPMV	1.0	8.0	-	-	4160_20:44663671-44663671 C>T_TEKGKEYDGKNMVLFEEEMDTSPMV
1:248737554-248737554 T>C	0.0	4160	COLON	-	-	-	-	OR2T34	ENST00000328782,p.M169V|uc001iep.1,p.M169V|NM_001001821,p.M169V	protein_coding	uc001iep.1	nonsynonymous SNV	exon1	c.A505G	p.M169V	GMVDGLLLTPITMSFPFCQSRKILS	GMVDGLLLTPITVSFPFCQSRKILS	1.0	2.0	-	-	4160_1:248737554-248737554 T>C_GMVDGLLLTPITVSFPFCQSRKILS
3:44847431-44847431 C>T	1.0	4160	COLON	-	-	-	-	KIF15	NM_020242,p.R642W|uc003cnx.4,p.R642W|uc010hiq.3,p.R545W|ENST00000326047,p.R642W|ENST00000481166,p.R414W|ENST00000425755,p.R277W|uc003cny.1,p.R277W	retained_intron, protein_coding, nonsense_mediated_decay	uc010hiq.3	nonsynonymous SNV	exon15	c.C1633T	p.R545W	LENLLEATKACKRQEVSQLNKIHAE	LENLLEATKACKWQEVSQLNKIHAE	9.0	7.0	-	-	4160_3:44847431-44847431 C>T_LENLLEATKACKWQEVSQLNKIHAE
9:22451419-22451419 C>T	0.0	4160	COLON	-	-	ID=COSM32354;OCCURENCE=1(large_intestine)	-	DMRTA1	uc003zpp.1,p.R342C|NM_022160,p.R342C|ENST00000325870,p.R342C	protein_coding	uc003zpp.1	nonsynonymous SNV	exon2	c.C1024T	p.R342C	LDILTKIFPNYRRSRLEGILRFCKG	LDILTKIFPNYRCSRLEGILRFCKG	1.0	9.0	-	-	4160_9:22451419-22451419 C>T_LDILTKIFPNYRCSRLEGILRFCKG
17:34068302-34068302 G>A	0.0	4160	COLON	-	-	-	-	RASL10B	ENST00000268864,p.R197H|NM_033315,p.R197H|uc002hju.3,p.R197H	protein_coding, processed_transcript	uc002hju.3	nonsynonymous SNV	exon4	c.G590A	p.R197H	VHAALRFQGALRRNRCAIM	VHAALRFQGALRHNRCAIM	5.0	9.0	-	-	4160_17:34068302-34068302 G>A_VHAALRFQGALRHNRCAIM
17:16097870-16097870 C>A	0.0	4160	COLON	-	-	-	1	NCOR1	uc002gpu.3,p.G5V|ENST00000436828,p.G5V|uc002gpn.3,p.G5V|uc002gpp.1,p.G5V|uc002gps.2,p.G5V|NM_001190438,p.G5V|uc010cpb.2,p.G5V|ENST00000395851,p.G5V|ENST00000268712,p.G5V|uc010cpa.2,p.G5V|uc002gpo.3,p.G5V|ENST00000582357,p.G5V|ENST00000460276,p.G5V|ENST00000430577,p.G5V|ENST00000395848,p.G5V|NM_006311,p.G5V|ENST00000411510,p.G5V|NM_001190440,p.G5V|uc002gpr.3,p.G5V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cpb.2	nonsynonymous SNV	exon2	c.G14T	p.G5V	MSSSGYPPNQGAFSTEQ	MSSSVYPPNQGAFSTEQ	10.0	1.0	unscreened	-	4160_17:16097870-16097870 C>A_MSSSVYPPNQGAFSTEQ
14:21024955-21024955 C>T	0.0	4160	COLON	-	-	-	-	RNASE9	NM_001110359,p.V97I|uc010aho.3,p.V92I|NM_001110361,p.V97I|ENST00000404716,p.V97I|NM_001110360,p.V97I|uc010aht.3,p.V92I|ENST00000338904,p.V92I|uc010ahr.3,p.V97I|uc010ahp.3,p.V97I|NM_001289110,p.V92I|ENST00000557209,p.V97I|NM_001110356,p.V92I|NM_001110357,p.V92I|uc001vxq.4,p.V97I|ENST00000557068,p.V92I|uc021rnt.1,p.V92I|NM_001001673,p.V92I|ENST00000553706,p.V97I|ENST00000429244,p.V92I|ENST00000555230,p.V92I|ENST00000554964,p.V92I|ENST00000553541,p.V92I|uc010ahu.3,p.V92I|ENST00000556208,p.V97I|uc010ahq.3,p.V97I|uc010ahs.3,p.V92I|NM_001110358,p.V97I	protein_coding	uc021rnt.1	nonsynonymous SNV	exon1	c.G274A	p.V92I	IEYCNHEIMGKNVYYKHRWVAEHYF	IEYCNHEIMGKNIYYKHRWVAEHYF	1.0	9.0	-	-	4160_14:21024955-21024955 C>T_IEYCNHEIMGKNIYYKHRWVAEHYF
22:36680510-36680510 A>G	1.0	4160	COLON	-	-	-	1	MYH9	uc003apg.3,p.L1844P|ENST00000216181,p.L1844P|NM_002473,p.L1844P	retained_intron, protein_coding, processed_transcript	uc003apg.3	nonsynonymous SNV	exon39	c.T5531C	p.L1844P	AACKQVRRTEKKLKDVLLQVDDERR	AACKQVRRTEKKPKDVLLQVDDERR	10.0	9.0	-	-	4160_22:36680510-36680510 A>G_AACKQVRRTEKKPKDVLLQVDDERR
1:248512085-248512085 T>A	0.0	4160	COLON	-	-	-	-	OR14C36	ENST00000317861,p.N3K|uc010pzl.2,p.N3K|NM_001001918,p.N3K	protein_coding	uc010pzl.2	nonsynonymous SNV	exon1	c.T9A	p.N3K	MPNSTTVMEFLLMRF	MPKSTTVMEFLLMRF	1.0	3.0	-	-	4160_1:248512085-248512085 T>A_MPKSTTVMEFLLMRF
18:43217116-43217116 A>G	0.0	4160	COLON	-	-	-	-	SLC14A2	uc002lbb.3,p.N271S|NM_001242692,p.N271S|NM_007163,p.N271S|uc002lbe.3,p.N271S|ENST00000586448,p.N271S|uc010dnj.3,p.N271S|ENST00000255226,p.N271S	protein_coding, nonsense_mediated_decay	uc010dnj.3	nonsynonymous SNV	exon7	c.A812G	p.N271S	PTTLVEPVSSVPNITWTEMEMPLLL	PTTLVEPVSSVPSITWTEMEMPLLL	1.0	6.0	-	-	4160_18:43217116-43217116 A>G_PTTLVEPVSSVPSITWTEMEMPLLL
9:32631370-32631370 G>A	0.0	4160	COLON	-	-	ID=COSM1108221;OCCURENCE=1(endometrium)	-	TAF1L	ENST00000242310,p.T1403M|NM_153809,p.T1403M|uc003zrg.1,p.T1403M	protein_coding	uc003zrg.1	nonsynonymous SNV	exon1	c.C4208T	p.T1403M	KSIHRRRTDPMVTLSSILESIINDM	KSIHRRRTDPMVMLSSILESIINDM	2.0	6.0	-	-	4160_9:32631370-32631370 G>A_KSIHRRRTDPMVMLSSILESIINDM
9:115811705-115811705 ->C	0.0	4160	COLON	-	-	-	-	ZFP37	uc011lxa.1,p.K97fs|ENST00000553380,p.K111fs|ENST00000555206,p.K97fs|uc011lwz.1,p.K111fs|NM_001282518,p.K97fs|NM_003408,p.K96fs|uc004bgm.1,p.K96fs|NM_001282515,p.K111fs|ENST00000374227,p.K96fs	protein_coding	uc011lxa.1	frameshift insertion	exon3	c.288dupG	p.K97fs	LEKGEAPWLGKGKRPSQGCPSKIAR	LEKGEAPWLGKGEKTQSRLSK	5.0	5.0	-	-	4160_9:115811705-115811705 ->C_LEKGEAPWLGKGEKTQSRLSK
2:105858977-105858977 C>T	0.0	4160	COLON	-	-	ID=COSM387063;OCCURENCE=2(lung)	-	GPR45	NM_007227,p.T221M|uc002tco.1,p.T221M|ENST00000258456,p.T221M	protein_coding	uc002tco.1	nonsynonymous SNV	exon1	c.C662T	p.T221M	GVMLCAYMCILNTVRKNAVRVHNQS	GVMLCAYMCILNMVRKNAVRVHNQS	1.0	4.0	-	-	4160_2:105858977-105858977 C>T_GVMLCAYMCILNMVRKNAVRVHNQS
9:22451734-22451734 G>A	0.0	4160	COLON	-	-	-	-	DMRTA1	ENST00000325870,p.G447R|uc003zpp.1,p.G447R|NM_022160,p.G447R	protein_coding	uc003zpp.1	nonsynonymous SNV	exon2	c.G1339A	p.G447R	SPLRLAYSSAGRGLSGFMSPYLTPG	SPLRLAYSSAGRRLSGFMSPYLTPG	1.0	10.0	-	-	4160_9:22451734-22451734 G>A_SPLRLAYSSAGRRLSGFMSPYLTPG
2:216916245-216916245 C>G	1.0	4160	COLON	-	-	-	-	PECR	ENST00000442122,p.V150L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000442122	nonsynonymous SNV	exon4	c.G448C	p.V150L	MCKAGILELQEQVFTTSPNL	MCKAGILELQEQLFTTSPNL	6.0	8.0	-	-	4160_2:216916245-216916245 C>G_MCKAGILELQEQLFTTSPNL
19:23328590-23328590 A>C	0.0	4160	COLON	-	-	-	-	ZNF730	NM_001277403,p.R248S|uc031rkc.1,p.R248S|ENST00000597761,p.R248S	protein_coding	uc031rkc.1	nonsynonymous SNV	exon4	c.A744C	p.R248S	AFNWFSHFTTHKRIHTGEKPYQCEK	AFNWFSHFTTHKSIHTGEKPYQCEK	1.0	4.0	-	-	4160_19:23328590-23328590 A>C_AFNWFSHFTTHKSIHTGEKPYQCEK
9:122011349-122011349 C>T	0.0	4160	COLON	-	-	-	-	BRINP1	NM_014618,p.E100K|ENST00000265922,p.E100K|uc004bkc.2,p.E100K|uc004bkd.2,p.E100K|ENST00000373964,p.E100K	protein_coding, processed_transcript	uc004bkd.2	nonsynonymous SNV	exon3	c.G298A	p.E100K	RDLVRHPVPLMPEFQRSIRLLGRRP	RDLVRHPVPLMPKFQRSIRLLGRRP	1.0	2.0	-	-	4160_9:122011349-122011349 C>T_RDLVRHPVPLMPKFQRSIRLLGRRP
X:147743434-147743434 C>G	0.0	4160	COLON	-	-	-	-	AFF2	uc004fcp.3,p.N62K|NM_002025,p.N62K|uc011mxb.2,p.N62K|ENST00000370460,p.N62K|NM_001169124,p.N62K	protein_coding	uc011mxb.2	nonsynonymous SNV	exon3	c.C186G	p.N62K	LFGEPYKVAEYTNKGDALANRVQNT	LFGEPYKVAEYTKKGDALANRVQNT	1.0	10.0	-	-	4160_X:147743434-147743434 C>G_LFGEPYKVAEYTKKGDALANRVQNT
1:154543919-154543919 C>T	0.0	4160	COLON	-	-	ID=COSM675853;OCCURENCE=1(lung)	-	CHRNB2	NM_000748,p.A207V|ENST00000368476,p.A207V|uc001ffg.3,p.A207V	protein_coding	uc001ffg.3	nonsynonymous SNV	exon5	c.C620T	p.A207V	DDFTPSGEWDIVALPGRRNENPDDS	DDFTPSGEWDIVVLPGRRNENPDDS	1.0	7.0	-	-	4160_1:154543919-154543919 C>T_DDFTPSGEWDIVVLPGRRNENPDDS
4:158282691-158282691 A>C	0.0	4160	COLON	-	-	-	-	GRIA2	uc003ipl.4,p.T765P|ENST00000393815,p.T718P|ENST00000507898,p.T718P|uc011cit.2,p.T718P|ENST00000449365,p.T718P|ENST00000296526,p.T765P|uc003ipk.4,p.T718P|NM_001083620,p.T718P|NM_000826,p.T765P|uc011ciy.1,p.T75P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ciy.1	nonsynonymous SNV	exon2	c.A223C	p.T75P	YGIATPKGSSLRTPVNLAVLKLSEQ	YGIATPKGSSLRPPVNLAVLKLSEQ	1.0	10.0	-	-	4160_4:158282691-158282691 A>C_YGIATPKGSSLRPPVNLAVLKLSEQ
2:68882152-68882152 T>C	0.0	4160	COLON	-	-	-	-	PROKR1	ENST00000394342,p.V209A|uc010yqj.2,p.V209A|ENST00000303786,p.V209A|NM_138964,p.V209A	protein_coding	uc010yqj.2	nonsynonymous SNV	exon2	c.T626C	p.V209A	SAYFTTETVLVIVKSQEKIFCGQIW	SAYFTTETVLVIAKSQEKIFCGQIW	1.0	8.0	-	-	4160_2:68882152-68882152 T>C_SAYFTTETVLVIAKSQEKIFCGQIW
4:62935916-62935916 G>A	0.0	4160	COLON	-	-	-	-	LPHN3	ENST00000514996,p.G1268S|uc010ihh.3,p.G1234S|ENST00000514591,p.G1234S|ENST00000506746,p.G1336S|ENST00000508946,p.G1277S|ENST00000506720,p.G1345S|NM_015236,p.G1234S|ENST00000507625,p.G1293S|ENST00000545650,p.G1234S|uc003hct.3,p.G618S	retained_intron, protein_coding, processed_transcript	uc010ihh.3	nonsynonymous SNV	exon23	c.G3700A	p.G1234S	NGNHGNSYSIASGEYLSNCVQIIDR	NGNHGNSYSIASSEYLSNCVQIIDR	4.0	10.0	-	-	4160_4:62935916-62935916 G>A_NGNHGNSYSIASSEYLSNCVQIIDR
12:94580189-94580189 C>A	0.0	4160	COLON	-	-	-	-	PLXNC1	NM_005761,p.S460Y|ENST00000258526,p.S460Y|ENST00000551850,p.S76Y|uc001tdc.3,p.S460Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001tdc.3	nonsynonymous SNV	exon4	c.C1379A	p.S460Y	RRIRVANCNKHKSCSECLTATDPHC	RRIRVANCNKHKYCSECLTATDPHC	5.0	4.0	-	-	4160_12:94580189-94580189 C>A_RRIRVANCNKHKYCSECLTATDPHC
12:11061864-11061864 C>T	0.0	4160	COLON	-	-	-	-	TAS2R13	NM_023920,p.V12I|uc001qzg.1,p.V12I|ENST00000390677,p.V12I	protein_coding	uc001qzg.1	nonsynonymous SNV	exon1	c.G34A	p.V12I	MESALPSIFTLVIIAEFIIGNLSN	MESALPSIFTLIIIAEFIIGNLSN	1.0	5.0	-	-	4160_12:11061864-11061864 C>T_MESALPSIFTLIIIAEFIIGNLSN
13:32868592-32868592 G>A	0.0	4160	COLON	-	-	-	-	FRY	uc001utx.3,p.D2890N|uc010tdw.3,p.D1616N|NM_023037,p.D2890N|uc010tdx.2,p.D260N|ENST00000380250,p.D2890N|uc001utz.3,p.D421N|ENST00000380217,p.D72N|ENST00000542859,p.D260N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tdx.2	nonsynonymous SNV	exon8	c.G778A	p.D260N	ASAVIAADPLYSDGAWSEPTFTSTE	ASAVIAADPLYSNGAWSEPTFTSTE	5.0	10.0	-	-	4160_13:32868592-32868592 G>A_ASAVIAADPLYSNGAWSEPTFTSTE
13:109318335-109318335 C>T	0.0	4160	COLON	-	-	-	-	MYO16	uc010agk.2,p.R44C|NM_015011,p.R22C|ENST00000251041,p.R22C|NM_001198950,p.R44C|uc001vqt.1,p.R22C|ENST00000357550,p.R22C|ENST00000356711,p.R22C	protein_coding, processed_transcript	uc010agk.2	nonsynonymous SNV	exon2	c.C130T	p.R44C	SLPLGQRQRLVKRMRCEQIKAYYER	SLPLGQRQRLVKCMRCEQIKAYYER	2.0	10.0	-	-	4160_13:109318335-109318335 C>T_SLPLGQRQRLVKCMRCEQIKAYYER
X:147743434-147743434 C>G	0.0	4160	COLON	-	-	-	-	AFF2	uc004fcq.3,p.N58K|ENST00000370457,p.N58K|uc004fcr.3,p.N58K|ENST00000370458,p.N58K|ENST00000342251,p.N58K|NM_001169122,p.N58K|uc004fco.3,p.N58K|NM_001169123,p.N58K|uc004fcs.3,p.N58K|NM_001169125,p.N58K	protein_coding	uc004fcs.3	nonsynonymous SNV	exon3	c.C174G	p.N58K	SGFDLFGEPYKTNKGDALANRVQNT	SGFDLFGEPYKTKKGDALANRVQNT	1.0	10.0	-	-	4160_X:147743434-147743434 C>G_SGFDLFGEPYKTKKGDALANRVQNT
1:21808184-21808184 C>T	0.0	4160	COLON	-	-	-	-	NBPF3	uc001bes.4,p.P454S|ENST00000434838,p.P454S|ENST00000454000,p.P440S|NM_001256417,p.P440S|ENST00000342104,p.P498S|ENST00000318249,p.P510S|uc001ber.4,p.P510S|uc009vqb.4,p.P498S|uc010odm.3,p.P440S|NM_001256416,p.P498S|NM_032264,p.P510S|ENST00000318220,p.P454S	protein_coding, processed_transcript	uc010odm.3	nonsynonymous SNV	exon12	c.C1318T	p.P440S	RWYSTPFSYPELPDSCQPYGSCFYS	RWYSTPFSYPELSDSCQPYGSCFYS	4.0	1.0	-	-	4160_1:21808184-21808184 C>T_RWYSTPFSYPELSDSCQPYGSCFYS
11:55890015-55890015 T>G	0.0	4160	COLON	-	-	-	-	OR8H3	ENST00000313472,p.L56R|NM_001005201,p.L56R|uc001nii.1,p.L56R	protein_coding	uc001nii.1	nonsynonymous SNV	exon1	c.T167G	p.L56R	VGMLLIIRLDLQLHTPMYFFLTHLS	VGMLLIIRLDLQRHTPMYFFLTHLS	1.0	2.0	-	-	4160_11:55890015-55890015 T>G_VGMLLIIRLDLQRHTPMYFFLTHLS
4:158282691-158282691 A>C	0.0	4160	COLON	-	-	-	-	GRIA2	uc011ciu.1,p.N113T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ciu.1	nonsynonymous SNV	exon3	c.A338C	p.N113T	KGECGSGGGDSKNPSKSCSIETQ	KGECGSGGGDSKTPSKSCSIETQ	1.0	10.0	-	-	4160_4:158282691-158282691 A>C_KGECGSGGGDSKTPSKSCSIETQ
15:56739085-56739085 C>T	0.0	4160	COLON	-	-	-	-	MNS1	ENST00000260453,p.R137K|NM_018365,p.R137K|uc002adr.2,p.R137K	retained_intron, protein_coding, processed_transcript	uc002adr.2	nonsynonymous SNV	exon4	c.G410A	p.R137K	EKKLKAAYMNKERAAQIAEKDAIKY	EKKLKAAYMNKEKAAQIAEKDAIKY	3.0	6.0	-	-	4160_15:56739085-56739085 C>T_EKKLKAAYMNKEKAAQIAEKDAIKY
10:115391292-115391292 ->AG	0.0	4160	COLON	-	-	-	-	NRAP	ENST00000369360,p.L579fs|NM_006175,p.L571fs|uc001lal.4,p.L606fs|uc001laj.4,p.L606fs|NM_001261463,p.L606fs|uc001lak.4,p.L571fs|ENST00000360478,p.L571fs|ENST00000359988,p.L606fs|NM_198060,p.L606fs|ENST00000369358,p.L614fs	protein_coding	uc001lal.4	frameshift insertion	exon18	c.1817_1818insCT	p.L606fs	AMGTADSRLLHSLQIAKMSSEVEYK	AMGTADSRLLHSLCRLLR	1.0	8.0	-	-	4160_10:115391292-115391292 ->AG_AMGTADSRLLHSLCRLLR
19:41055311-41055311 G>C	0.0	4160	COLON	-	-	-	-	SPTBN4	ENST00000392023,p.D202H|ENST00000352632,p.D1526H|ENST00000598249,p.D1526H|NM_020971,p.D1526H|uc002onx.3,p.D1526H|ENST00000595535,p.D1526H|ENST00000338932,p.D1526H|uc002ooa.3,p.D202H|uc002ony.3,p.D1526H|ENST00000392025,p.D269H|uc010egy.1,p.D202H|uc010egx.3,p.D269H|NM_025213,p.D202H|uc002onz.3,p.D1526H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010egy.1	nonsynonymous SNV	exon4	c.G604C	p.D202H	SKELHQVAHDLDDELAWVQERLPLA	SKELHQVAHDLDHELAWVQERLPLA	3.0	9.0	-	-	4160_19:41055311-41055311 G>C_SKELHQVAHDLDHELAWVQERLPLA
1:173517575-173517575 C>T	0.0	4160	COLON	-	-	-	-	SLC9C2	ENST00000536496,p.V370I|NM_178527,p.V472I|uc009wwe.2,p.V30I|uc001giz.2,p.V472I|ENST00000367714,p.V472I	protein_coding, processed_transcript	uc009wwe.2	nonsynonymous SNV	exon5	c.G88A	p.V30I	ITLFKTEKILTNVNWTLVEDKTRIE	ITLFKTEKILTNINWTLVEDKTRIE	1.0	8.0	-	-	4160_1:173517575-173517575 C>T_ITLFKTEKILTNINWTLVEDKTRIE
X:135825927-135825927 T>A	0.0	4160	COLON	-	-	-	-	ARHGEF6	ENST00000250617,p.S160C|uc004fab.3,p.S160C|NM_004840,p.S160C	protein_coding	uc004fab.3	nonsynonymous SNV	exon5	c.A478T	p.S160C	RQSKTVEMTENGSHQLIVKARFNFK	RQSKTVEMTENGCHQLIVKARFNFK	5.0	6.0	-	-	4160_X:135825927-135825927 T>A_RQSKTVEMTENGCHQLIVKARFNFK
12:47629334-47629334 A>G	1.0	4160	COLON	-	-	ID=COSM231279;OCCURENCE=1(skin)	-	PCED1B	ENST00000546455,p.N163S|NM_001281429,p.N163S|uc001rpn.3,p.N163S|uc021qxi.1,p.N163S|uc001rpq.3,p.N163S|ENST00000432328,p.N163S|ENST00000548348,p.N43S|NM_138371,p.N163S	protein_coding	uc021qxi.1	nonsynonymous SNV	exon1	c.A488G	p.N163S	GQVLPESCLLVWNTAMPVGEEVTGG	GQVLPESCLLVWSTAMPVGEEVTGG	7.0	1.0	unscreened	-	4160_12:47629334-47629334 A>G_GQVLPESCLLVWSTAMPVGEEVTGG
8:51314773-51314773 A>G	0.0	4160	COLON	-	-	-	-	SNTG1	NM_001287814,p.K11E|NM_001287813,p.K11E|ENST00000276467,p.K11E|uc003xqs.1,p.K11E|NM_018967,p.K11E|ENST00000520825,p.K11E|ENST00000517473,p.K11E|ENST00000518864,p.K11E|uc010lxz.1,p.K11E|ENST00000522124,p.K11E|uc010lxy.1,p.K11E|ENST00000523085,p.K11E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lxz.1	nonsynonymous SNV	exon3	c.A31G	p.K11E	MDFRTACEETKTGICLLQDGNQE	MDFRTACEETETGICLLQDGNQE	1.0	9.0	-	-	4160_8:51314773-51314773 A>G_MDFRTACEETETGICLLQDGNQE
6:110763695-110763695 G>T	0.0	4160	COLON	-	-	-	-	SLC22A16	ENST00000437378,p.A269D|NM_033125,p.A312D|ENST00000368919,p.A312D|ENST00000434949,p.A142D|uc003pue.3,p.A293D|ENST00000330550,p.A278D|uc003puf.3,p.A312D|ENST00000451557,p.A229D|ENST00000439654,p.A312D	protein_coding, processed_transcript	uc003puf.3	nonsynonymous SNV	exon4	c.C935A	p.A312D	RYEEAQKIVDIMAKWNRASSCKLSE	RYEEAQKIVDIMDKWNRASSCKLSE	1.0	8.0	-	-	4160_6:110763695-110763695 G>T_RYEEAQKIVDIMDKWNRASSCKLSE
19:52004774-52004774 G>A	0.0	4160	COLON	0.0014	-	-	-	SIGLEC12	uc002pwx.1,p.R72W|ENST00000596742,p.R72W|ENST00000291707,p.R72W|NM_053003,p.R72W	protein_coding, nonsense_mediated_decay	uc002pwx.1	nonsynonymous SNV	exon1	c.C214T	p.R72W	HGYWFRAGDHVSRNIPVATNNPARA	HGYWFRAGDHVSWNIPVATNNPARA	2.0	8.0	unscreened	-	4160_19:52004774-52004774 G>A_HGYWFRAGDHVSWNIPVATNNPARA
17:18023807-18023807 G>A	0.0	4160	COLON	-	-	-	-	MYO15A	uc021trl.1,p.V565M|ENST00000205890,p.V565M|NM_016239,p.V565M|uc021trm.1,p.V565M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021trm.1	nonsynonymous SNV	exon1	c.G1693A	p.V565M	RGLGFGPEFGRPVPRPATSLARFLK	RGLGFGPEFGRPMPRPATSLARFLK	2.0	5.0	-	-	4160_17:18023807-18023807 G>A_RGLGFGPEFGRPMPRPATSLARFLK
9:34723556-34723556 T>G	0.0	4160	COLON	-	-	-	-	FAM205A	uc011lor.2,p.K1227N|NM_001141917,p.K1227N|ENST00000378788,p.K1227N	protein_coding	uc011lor.2	nonsynonymous SNV	exon4	c.A3681C	p.K1227N	IKCFLQHINPKTKGKGHEDSMFSAA	IKCFLQHINPKTNGKGHEDSMFSAA	1.0	7.0	-	-	4160_9:34723556-34723556 T>G_IKCFLQHINPKTNGKGHEDSMFSAA
21:28216862-28216862 C>T	0.0	4160	COLON	-	-	-	-	ADAMTS1	ENST00000284984,p.A138T|NM_006988,p.A138T|uc002ymf.3,p.A138T	retained_intron, protein_coding	uc002ymf.3	nonsynonymous SNV	exon1	c.G412A	p.A138T	SGTVNGDPSSAAALSLCEGVRGAFY	SGTVNGDPSSAATLSLCEGVRGAFY	6.0	1.0	unscreened	-	4160_21:28216862-28216862 C>T_SGTVNGDPSSAATLSLCEGVRGAFY
12:130941188-130941188 G>T	0.0	4160	COLON	-	-	-	-	RIMBP2	NM_015347,p.L54M|uc001uil.2,p.L54M|ENST00000261655,p.L54M	retained_intron, protein_coding, nonsense_mediated_decay	uc001uil.2	nonsynonymous SNV	exon4	c.C160A	p.L54M	EKCRTQSEQFNLLSRDLEKFRQHAG	EKCRTQSEQFNLMSRDLEKFRQHAG	4.0	7.0	-	-	4160_12:130941188-130941188 G>T_EKCRTQSEQFNLMSRDLEKFRQHAG
13:36049491-36049491 A>C	0.0	4160	COLON	-	-	-	-	MAB21L1	NM_005584,p.L262R|uc001uvc.3,p.L262R|ENST00000379919,p.L262R	protein_coding	uc001uvc.3	nonsynonymous SNV	exon2	c.T785G	p.L262R	CLSILKTLRDRHLELPGQPLNNYHM	CLSILKTLRDRHRELPGQPLNNYHM	1.0	1.0	-	-	4160_13:36049491-36049491 A>C_CLSILKTLRDRHRELPGQPLNNYHM
X:86868983-86868983 T>G	0.0	4160	COLON	-	-	-	-	KLHL4	uc004efb.2,p.L176V|ENST00000373114,p.L176V|NM_019117,p.L176V|ENST00000373119,p.L176V|NM_057162,p.L176V|uc004efa.2,p.L176V	protein_coding	uc004efb.2	nonsynonymous SNV	exon2	c.T526G	p.L176V	HAEQTLRKMENYLKEKQLCDVLLIA	HAEQTLRKMENYVKEKQLCDVLLIA	2.0	4.0	-	-	4160_X:86868983-86868983 T>G_HAEQTLRKMENYVKEKQLCDVLLIA
8:3474275-3474275 G>A	0.0	4160	COLON	-	-	-	-	CSMD1	ENST00000520002,p.P352S|ENST00000400186,p.P352S|ENST00000539096,p.P352S|ENST00000602723,p.P352S|uc022aqr.1,p.P352S|NM_033225,p.P352S|ENST00000542608,p.P352S|ENST00000602557,p.P352S|ENST00000537824,p.P352S	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon8	c.C1054T	p.P352S	GGVALVSDMCPDPGIPENGRRAGSD	GGVALVSDMCPDSGIPENGRRAGSD	2.0	9.0	-	-	4160_8:3474275-3474275 G>A_GGVALVSDMCPDSGIPENGRRAGSD
2:100210490-100210490 C>T	0.0	4160	COLON	-	-	-	1	AFF3	uc010yvr.1,p.V698M|uc010fiq.1,p.V545M|ENST00000409579,p.V570M|uc002taf.3,p.V570M|ENST00000317233,p.V545M|uc002tag.3,p.V545M|uc002tah.1,p.V570M|NM_002285,p.V545M|NM_001025108,p.V570M|ENST00000409236,p.V545M|ENST00000356421,p.V570M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yvr.1	nonsynonymous SNV	exon15	c.G2092A	p.V698M	PRTANKAPGSKGVKQKSPPAAVAVA	PRTANKAPGSKGMKQKSPPAAVAVA	4.0	8.0	-	-	4160_2:100210490-100210490 C>T_PRTANKAPGSKGMKQKSPPAAVAVA
X:34961250-34961250 C>T	0.0	4160	COLON	-	-	ID=COSM1206357;OCCURENCE=1(large_intestine)	-	FAM47B	ENST00000329357,p.A101V|uc004ddi.2,p.A101V|NM_152631,p.A101V	protein_coding	uc004ddi.2	nonsynonymous SNV	exon1	c.C302T	p.A101V	DRKSRKKKLLKKAALFSELSPVQPA	DRKSRKKKLLKKVALFSELSPVQPA	1.0	6.0	-	-	4160_X:34961250-34961250 C>T_DRKSRKKKLLKKVALFSELSPVQPA
19:17756522-17756522 G>A	0.0	4160	COLON	-	-	-	-	UNC13A	uc031rjw.1,p.R773W|ENST00000252773,p.R773W|ENST00000519716,p.R773W|ENST00000550896,p.R771W|NM_001080421,p.R773W|ENST00000551649,p.R773W|ENST00000428389,p.R861W|ENST00000552293,p.R773W	retained_intron, protein_coding	uc031rjw.1	nonsynonymous SNV	exon19	c.C2317T	p.R773W	SDDFLGQTIIEVRTLSGEMDVWYNL	SDDFLGQTIIEVWTLSGEMDVWYNL	2.0	7.0	-	-	4160_19:17756522-17756522 G>A_SDDFLGQTIIEVWTLSGEMDVWYNL
3:85961679-85961679 T>G	0.0	4160	COLON	-	-	-	-	CADM2	uc003dql.3,p.V222G|NM_001256503,p.V112G|NM_153184,p.V222G|uc003dqk.3,p.V229G|NM_001167675,p.V229G|NM_001256502,p.V112G|ENST00000405615,p.V222G|NM_001256505,p.V112G|NM_001167674,p.V220G|NM_001256504,p.V112G|uc021xay.1,p.V112G|uc021xba.1,p.V112G|uc003dqm.2,p.V112G|uc003dqj.3,p.V220G|uc021xaz.1,p.V112G|ENST00000407528,p.V220G|ENST00000383699,p.V229G	protein_coding, processed_transcript	uc021xba.1	nonsynonymous SNV	exon5	c.T335G	p.V112G	ESLNATPQVAMQVLEIHYTPSVKII	ESLNATPQVAMQGLEIHYTPSVKII	1.0	6.0	-	-	4160_3:85961679-85961679 T>G_ESLNATPQVAMQGLEIHYTPSVKII
6:132873842-132873842 A>G	0.0	4160	COLON	-	-	-	-	TAAR8	NM_053278,p.N4S|ENST00000275200,p.N4S|uc011ecj.2,p.N4S	protein_coding	uc011ecj.2	nonsynonymous SNV	exon1	c.A11G	p.N4S	MTSNFSQPVVQLCYED	MTSSFSQPVVQLCYED	1.0	7.0	-	-	4160_6:132873842-132873842 A>G_MTSSFSQPVVQLCYED
11:55798847-55798847 G>A	0.0	4160	COLON	-	-	ID=COSM429199;OCCURENCE=1(breast)	-	OR5AS1	NM_001001921,p.R318H|uc010riw.2,p.R318H|ENST00000313555,p.R318H	protein_coding	uc010riw.2	nonsynonymous SNV	exon1	c.G953A	p.R318H	ERIGYSNEWYLNRLRIVNI	ERIGYSNEWYLNHLRIVNI	1.0	5.0	-	-	4160_11:55798847-55798847 G>A_ERIGYSNEWYLNHLRIVNI
1:178834622-178834622 C>T	0.0	4160	COLON	-	-	-	-	ANGPTL1	ENST00000367629,p.R97Q|uc001gma.3,p.R97Q|uc001gmb.3,p.R97Q|ENST00000234816,p.R97Q|NM_004673,p.R97Q|uc010pnc.1,p.R19Q|ENST00000444255,p.R97Q	protein_coding	uc010pnc.1	nonsynonymous SNV	exon3	c.G56A	p.R19Q	LENLKDVLSRQKREIDVLQLVVDVD	LENLKDVLSRQKQEIDVLQLVVDVD	3.0	8.0	-	-	4160_1:178834622-178834622 C>T_LENLKDVLSRQKQEIDVLQLVVDVD
1:172007477-172007477 C>G	0.0	4160	COLON	-	-	-	-	DNM3	uc009wwb.3,p.R290G|uc001gie.4,p.R290G|ENST00000367731,p.R290G|NM_001136127,p.R290G|ENST00000520906,p.R290G|NM_015569,p.R290G|uc001gid.5,p.R290G|NM_001278252,p.R290G|ENST00000367733,p.R290G|ENST00000523513,p.R180G|uc001gif.4,p.R290G|ENST00000355305,p.R290G|ENST00000358155,p.R290G	retained_intron, protein_coding	uc009wwb.3	nonsynonymous SNV	exon7	c.C868G	p.R290G	QKVLNQQLTNHIRDTLPNFRNKLQG	QKVLNQQLTNHIGDTLPNFRNKLQG	5.0	1.0	unscreened	-	4160_1:172007477-172007477 C>G_QKVLNQQLTNHIGDTLPNFRNKLQG
11:72408463-72408463 G>C	1.0	4160	COLON	-	-	-	-	ARAP1	uc010rre.2,p.A708G|ENST00000334211,p.A708G|ENST00000452383,p.A241G|NM_001135190,p.A647G|uc001osu.3,p.A953G|uc009yth.3,p.A647G|ENST00000455638,p.A953G|ENST00000429686,p.A647G|uc001osr.3,p.A713G|NM_001040118,p.A953G|ENST00000393609,p.A953G|NM_015242,p.A708G|ENST00000393605,p.A713G|ENST00000426523,p.A708G|uc001osv.3,p.A953G|uc001oss.3,p.A708G|ENST00000427971,p.A241G|ENST00000359373,p.A953G	retained_intron, protein_coding, processed_transcript	uc010rre.2	nonsynonymous SNV	exon19	c.C2123G	p.A708G	DFMGWLGAIQKAAASMGDTLSEQQL	DFMGWLGAIQKAGASMGDTLSEQQL	9.0	1.0	-	-	4160_11:72408463-72408463 G>C_DFMGWLGAIQKAGASMGDTLSEQQL
12:96350478-96350478 T>A	0.0	4160	COLON	-	-	-	-	AMDHD1	uc001tel.2,p.Y109N|NM_152435,p.Y109N|ENST00000266736,p.Y109N	retained_intron, protein_coding, nonsense_mediated_decay	uc001tel.2	nonsynonymous SNV	exon4	c.T325A	p.Y109N	VHEFAMKLAGATYMEIHQAGGGIHF	VHEFAMKLAGATNMEIHQAGGGIHF	2.0	5.0	-	-	4160_12:96350478-96350478 T>A_VHEFAMKLAGATNMEIHQAGGGIHF
12:247905-247905 C>T	0.0	4160	COLON	-	-	-	-	IQSEC3	NM_015232,p.A156V|ENST00000326261,p.A459V|ENST00000538872,p.A459V|uc001qhw.2,p.A459V|ENST00000382841,p.A156V|uc001qhu.1,p.A156V|NM_001170738,p.A459V	retained_intron, protein_coding, processed_transcript	uc001qhw.2	nonsynonymous SNV	exon4	c.C1376T	p.A459V	PGLEAEGRAPESAGPGPGDDAAETP	PGLEAEGRAPESVGPGPGDDAAETP	4.0	8.0	-	-	4160_12:247905-247905 C>T_PGLEAEGRAPESVGPGPGDDAAETP
6:152711556-152711556 A>C	0.0	4160	COLON	-	-	-	-	SYNE1	ENST00000423061,p.V2686G|ENST00000448038,p.V2686G|NM_182961,p.V2679G|uc003qot.4,p.V2686G|ENST00000367255,p.V2679G|ENST00000341594,p.V2718G|uc003qou.4,p.V2679G|uc010kjb.1,p.V2662G|ENST00000265368,p.V2679G|NM_033071,p.V2686G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kjb.1	nonsynonymous SNV	exon51	c.T7985G	p.V2662G	IQDILLMKGEGEVKLNMAIGKGEQA	IQDILLMKGEGEGKLNMAIGKGEQA	6.0	4.0	-	-	4160_6:152711556-152711556 A>C_IQDILLMKGEGEGKLNMAIGKGEQA
1:158582624-158582624 T>C	0.0	4160	COLON	-	-	-	-	SPTA1	ENST00000368148,p.K2373E|NM_003126,p.K2373E|uc001fst.1,p.K2373E|ENST00000368147,p.K2370E	protein_coding, processed_transcript	uc001fst.1	nonsynonymous SNV	exon51	c.A7117G	p.K2373E	FQALAEGKSYITKEDMKQALTPEQV	FQALAEGKSYITEEDMKQALTPEQV	1.0	4.0	-	-	4160_1:158582624-158582624 T>C_FQALAEGKSYITEEDMKQALTPEQV
X:37893258-37893258 T>C	0.0	4160	COLON	-	-	-	-	SYTL5	ENST00000357972,p.I39T|NM_138780,p.I39T|uc004ddx.3,p.I39T|NM_001163334,p.I39T|uc004ddu.3,p.I39T|ENST00000456733,p.I39T|NM_001163335,p.I39T|ENST00000297875,p.I39T|uc004ddv.3,p.I39T	protein_coding	uc004ddx.3	nonsynonymous SNV	exon1	c.T116C	p.I39T	RDEYLKKVEDKRIRKLKNELLEAKR	RDEYLKKVEDKRTRKLKNELLEAKR	5.0	2.0	-	-	4160_X:37893258-37893258 T>C_RDEYLKKVEDKRTRKLKNELLEAKR
7:33296962-33296962 A>G	0.0	4160	COLON	-	-	-	-	BBS9	uc011kan.1,p.Y186C|NM_014451,p.Y186C|NM_001033604,p.Y186C|ENST00000433714,p.Y186C|uc003tdo.1,p.Y186C|ENST00000425508,p.Y141C|ENST00000350941,p.Y186C|uc003tdn.1,p.Y186C|uc011kao.1,p.Y64C|ENST00000355070,p.Y186C|ENST00000242067,p.Y186C|NM_001033605,p.Y186C|ENST00000442858,p.Y64C|ENST00000396127,p.Y186C|ENST00000354265,p.Y186C|NM_198428,p.Y186C|uc003tdq.1,p.Y186C|uc003tdp.1,p.Y186C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kao.1	nonsynonymous SNV	exon3	c.A191G	p.Y64C	FLPGFLLPGPLAYSSRTDSFLTVSS	FLPGFLLPGPLACSSRTDSFLTVSS	6.0	1.0	unscreened	-	4160_7:33296962-33296962 A>G_FLPGFLLPGPLACSSRTDSFLTVSS
X:122551780-122551780 A>T	0.0	4160	COLON	-	-	-	-	GRIA3	uc011muf.1,p.L660F|ENST00000541091,p.L660F	protein_coding, processed_transcript	uc011muf.1	nonsynonymous SNV	exon11	c.A1980T	p.L660F	SNDRLSSSHCVCLCP	SNDRLSSSHCVCFCP	2.0	6.0	-	-	4160_X:122551780-122551780 A>T_SNDRLSSSHCVCFCP
19:8654337-8654337 T>G	0.0	4160	COLON	-	-	-	-	ADAMTS10	ENST00000270328,p.K678T|uc002mkk.1,p.K310T|NM_030957,p.K678T|uc002mki.1,p.K165T|uc002mkj.1,p.K678T|NM_001282352,p.K165T|ENST00000595838,p.K165T|ENST00000597188,p.K678T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkk.1	nonsynonymous SNV	exon16	c.A929C	p.K310T	PDTVDICVSGECKHVGCDRVLGSDL	PDTVDICVSGECTHVGCDRVLGSDL	6.0	6.0	-	-	4160_19:8654337-8654337 T>G_PDTVDICVSGECTHVGCDRVLGSDL
6:30043368-30043368 G>T	0.0	4160	COLON	-	-	-	-	RNF39	ENST00000376751,p.L67I|NM_025236,p.L67I|uc003npe.3,p.L67I|ENST00000244360,p.L67I|NM_170769,p.L67I|uc003npd.3,p.L67I	protein_coding	uc003npe.3	nonsynonymous SNV	exon1	c.C199A	p.L67I	TVVAEGAASRSWLSMDAPELGPGLV	TVVAEGAASRSWISMDAPELGPGLV	5.0	5.0	-	-	4160_6:30043368-30043368 G>T_TVVAEGAASRSWISMDAPELGPGLV
18:43217053-43217053 C>T	0.0	4160	COLON	-	-	-	-	SLC14A2	NM_001242692,p.A250V|uc002lbe.3,p.A250V|uc002lbb.3,p.A250V|uc010dnj.3,p.A250V|ENST00000255226,p.A250V|ENST00000586448,p.A250V|NM_007163,p.A250V	protein_coding, nonsense_mediated_decay	uc010dnj.3	nonsynonymous SNV	exon7	c.C749T	p.A250V	LPFNIAVTLYLAATGHYNLFFPTTL	LPFNIAVTLYLAVTGHYNLFFPTTL	1.0	6.0	-	-	4160_18:43217053-43217053 C>T_LPFNIAVTLYLAVTGHYNLFFPTTL
19:55494319-55494319 C>T	0.0	4160	COLON	-	-	-	-	NLRP2	NM_001174082,p.P396L|ENST00000263437,p.P415L|uc010esp.3,p.P396L|uc002qij.3,p.P418L|uc021vbq.1,p.P418L|uc010yfp.2,p.P395L|uc010esn.3,p.P394L|NM_001174083,p.P395L|ENST00000538819,p.P394L|ENST00000537859,p.P396L|ENST00000543010,p.P418L|ENST00000427260,p.P395L|NM_017852,p.P418L|uc010eso.3,p.P415L|ENST00000391721,p.P394L|NM_001174081,p.P418L|ENST00000448584,p.P418L|ENST00000339757,p.P396L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vbq.1	nonsynonymous SNV	exon6	c.C1253T	p.P418L	TTLKLQMEKGEDPVPTCLTRTGLFL	TTLKLQMEKGEDLVPTCLTRTGLFL	4.0	6.0	-	-	4160_19:55494319-55494319 C>T_TTLKLQMEKGEDLVPTCLTRTGLFL
1:47610511-47610511 A>C	0.0	4160	COLON	-	-	-	-	CYP4A22	uc009vyo.3,p.N364T|NM_001010969,p.N364T|ENST00000371891,p.N364T|ENST00000294337,p.N364T|uc001cqv.1,p.N364T	protein_coding, processed_transcript	uc009vyo.3	nonsynonymous SNV	exon9	c.A1091C	p.N364T	HGLLGDGASITWNHLDQMPYTTMCI	HGLLGDGASITWTHLDQMPYTTMCI	1.0	2.0	-	-	4160_1:47610511-47610511 A>C_HGLLGDGASITWTHLDQMPYTTMCI
11:120999042-120999042 T>A	0.0	4160	COLON	-	-	-	-	TECTA	NM_005422,p.S786T|ENST00000392793,p.S786T|ENST00000264037,p.S786T|uc010rzo.2,p.S786T	protein_coding, processed_transcript	uc010rzo.2	nonsynonymous SNV	exon8	c.T2356A	p.S786T	ADQEVKIGGIGASEVKLNGQEVELP	ADQEVKIGGIGATEVKLNGQEVELP	1.0	3.0	-	-	4160_11:120999042-120999042 T>A_ADQEVKIGGIGATEVKLNGQEVELP
X:125299561-125299561 T>C	0.0	4160	COLON	-	-	-	2	DCAF12L2	NM_001013628,p.K116R|ENST00000538699,p.K116R|ENST00000360028,p.K116R|uc004euk.2,p.K116R	protein_coding	uc004euk.2	nonsynonymous SNV	exon1	c.A347G	p.K116R	QWLNARQVVCGTKCNTLFVVDVQSG	QWLNARQVVCGTRCNTLFVVDVQSG	1.0	4.0	-	-	4160_X:125299561-125299561 T>C_QWLNARQVVCGTRCNTLFVVDVQSG
2:179505979-179505979 T>G	0.0	4160	COLON	-	-	-	-	TTN	ENST00000359218,p.K4601T|ENST00000414766,p.K862T|NM_001267550,p.K13541T|uc021vsy.2,p.K10973T|NM_001256850,p.K11900T|ENST00000460472,p.K4476T|uc031rqd.1,p.K11900T|ENST00000591111,p.K11900T|uc021vtb.2,p.K4476T|uc031rqc.1,p.K13541T|NM_133437,p.K4668T|NM_133432,p.K4601T|NM_133378,p.K10973T|NM_003319,p.K4476T|uc021vta.2,p.K4601T|uc010fre.1,p.K851T|ENST00000589042,p.K13541T|ENST00000342992,p.K10973T|ENST00000342175,p.K4668T|uc021vsz.2,p.K4668T	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon170	c.A35699C	p.K11900T	EPKVEPKKLEKVKKPAVPEPPPPKP	EPKVEPKKLEKVTKPAVPEPPPPKP	1.0	5.0	-	-	4160_2:179505979-179505979 T>G_EPKVEPKKLEKVTKPAVPEPPPPKP
11:35454061-35454061 G>A	0.0	4160	COLON	-	-	ID=COSM926686;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(endometrium)	-	PAMR1	ENST00000532848,p.A629V|ENST00000278360,p.A686V|uc010rew.2,p.A558V|NM_001282676,p.A558V|ENST00000378878,p.A558V|NM_015430,p.A686V|NM_001282675,p.A629V|NM_001001991,p.A669V|uc001mwf.3,p.A686V|ENST00000378880,p.A669V|uc010rex.2,p.A629V|ENST00000527605,p.A646V|uc001mwg.3,p.A669V	retained_intron, protein_coding, processed_transcript	uc010rex.2	nonsynonymous SNV	exon13	c.C1886T	p.A629V	PSDICTAETGGIAAVSFPGRASPEP	PSDICTAETGGIVAVSFPGRASPEP	4.0	3.0	-	-	4160_11:35454061-35454061 G>A_PSDICTAETGGIVAVSFPGRASPEP
8:117950717-117950717 G>A	0.0	4160	COLON	-	-	-	-	AARD	uc003yof.3,p.V79M|NM_001025357,p.V79M|ENST00000378279,p.V79M	protein_coding, processed_transcript	uc003yof.3	nonsynonymous SNV	exon1	c.G235A	p.V79M	FQWAVQRAISRRVQEAAAAAAAREE	FQWAVQRAISRRMQEAAAAAAAREE	1.0	2.0	-	-	4160_8:117950717-117950717 G>A_FQWAVQRAISRRMQEAAAAAAAREE
1:47610511-47610511 A>C	0.0	4160	COLON	-	-	-	-	CYP4A22	ENST00000371890,p.N266T|uc009vyp.3,p.N266T	protein_coding, processed_transcript	uc009vyp.3	nonsynonymous SNV	exon7	c.A797C	p.N266T	RPCWCSGWNCFRNHLDQMPYTTMCI	RPCWCSGWNCFRTHLDQMPYTTMCI	1.0	2.0	-	-	4160_1:47610511-47610511 A>C_RPCWCSGWNCFRTHLDQMPYTTMCI
5:1878177-1878177 A>C	0.0	4160	COLON	-	-	-	-	IRX4	NM_001278633,p.F515C|uc011cmf.2,p.F350C|ENST00000505790,p.F489C|NM_016358,p.F489C|ENST00000231357,p.F489C|uc003jcz.2,p.F489C|NM_001278632,p.F489C|ENST00000513692,p.F489C|uc031siq.1,p.F515C|uc031sip.1,p.F489C|NM_001278634,p.F489C|uc031sir.1,p.F489C|NM_001278635,p.F515C|uc031sio.1,p.F515C	protein_coding, processed_transcript, nonsense_mediated_decay	uc031sir.1	nonsynonymous SNV	exon6	c.T1466G	p.F489C	GANVLTAPLARAFPPAVPQDAPAAG	GANVLTAPLARACPPAVPQDAPAAG	1.0	3.0	-	-	4160_5:1878177-1878177 A>C_GANVLTAPLARACPPAVPQDAPAAG
17:35297989-35297989 C>A	0.0	4160	COLON	-	-	-	-	LHX1	uc010cux.1,p.N68K|uc002hnh.2,p.N160K|ENST00000254457,p.N160K|NM_005568,p.N160K	retained_intron, protein_coding, processed_transcript	uc010cux.1	nonsynonymous SNV	exon3	c.C204A	p.N68K	PSQDDAKDSESANVSDKEAGSNEND	PSQDDAKDSESAKVSDKEAGSNEND	1.0	5.0	-	-	4160_17:35297989-35297989 C>A_PSQDDAKDSESAKVSDKEAGSNEND
5:140734966-140734966 G>A	0.0	4160	COLON	-	-	-	-	PCDHGA4	uc003ljp.1,p.V67I|ENST00000571252,p.V67I|NM_032053,p.V98I|NM_018917,p.V98I|uc003ljq.2,p.V67I	protein_coding	uc003ljq.2	nonsynonymous SNV	exon1	c.G199A	p.V67I	APRELAERGVRIVSRGRTQLFALNP	APRELAERGVRIISRGRTQLFALNP	3.0	5.0	-	-	4160_5:140734966-140734966 G>A_APRELAERGVRIISRGRTQLFALNP
10:55663094-55663094 T>C	0.0	4160	COLON	-	-	-	-	PCDH15	uc021pqw.1,p.E1149G|uc010qhw.1,p.E1100G|uc021pqv.1,p.E1137G|uc021pqz.1,p.E1115G|ENST00000395432,p.E1100G|NM_001142768,p.E1115G|NM_001142764,p.E1137G|uc010qib.1,p.E1115G|ENST00000373965,p.E1144G|uc021pqy.1,p.E1137G|ENST00000395438,p.E1137G|ENST00000395445,p.E1144G|ENST00000395430,p.E1137G|ENST00000409834,p.E748G|uc010qht.2,p.E1144G|uc010qhq.2,p.E1142G|NM_033056,p.E1137G|uc010qhr.2,p.E1137G|NM_001142763,p.E1142G|uc021pqx.1,p.E1137G|NM_001142765,p.E1066G|NM_001142773,p.E1115G|uc010qhx.1,p.E1066G|uc010qhy.1,p.E1142G|ENST00000437009,p.E1066G|uc010qhv.1,p.E1137G|ENST00000361849,p.E1137G|NM_001142767,p.E1100G|uc010qhz.1,p.E1137G|ENST00000395433,p.E1115G|ENST00000320301,p.E1137G|uc010qia.1,p.E1115G|NM_001142766,p.E1137G|uc001jju.1,p.E1137G|ENST00000414778,p.E1142G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqz.1	nonsynonymous SNV	exon24	c.A3344G	p.E1115G	SNTAKVYIEIQDENNHPPVFQKKFY	SNTAKVYIEIQDGNNHPPVFQKKFY	1.0	4.0	-	-	4160_10:55663094-55663094 T>C_SNTAKVYIEIQDGNNHPPVFQKKFY
7:82475945-82475945 A>C	0.0	4160	COLON	-	-	-	-	PCLO	NM_033026,p.L4590R|uc003uht.1,p.L41R|NM_014510,p.L4590R|ENST00000423517,p.L4590R|ENST00000333891,p.L4590R|uc003uhv.2,p.L4590R|uc003uhx.2,p.L4590R	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon12	c.T13769G	p.L4590R	QSGEAEICVRLDLNMLSDSENSQHL	QSGEAEICVRLDRNMLSDSENSQHL	5.0	2.0	-	-	4160_7:82475945-82475945 A>C_QSGEAEICVRLDRNMLSDSENSQHL
6:93956590-93956590 T>G	0.0	4160	COLON	-	-	-	2	EPHA7	uc011eac.2,p.K878N|NM_004440,p.K882N|ENST00000369303,p.K882N|uc003pof.3,p.K877N|NM_001288629,p.K877N|uc003poe.3,p.K882N	protein_coding	uc011eac.2	nonsynonymous SNV	exon15	c.A2634C	p.K878N	LDCWQKERAERPKFEQIVGILDKMI	LDCWQKERAERPNFEQIVGILDKMI	1.0	2.0	-	-	4160_6:93956590-93956590 T>G_LDCWQKERAERPNFEQIVGILDKMI
6:87969615-87969615 G>A	1.0	4160	COLON	-	-	-	-	ZNF292	ENST00000369577,p.E2090K|ENST00000339907,p.E2085K|uc003plm.4,p.E2090K|NM_015021,p.E2090K	protein_coding, processed_transcript	uc003plm.4	nonsynonymous SNV	exon8	c.G6268A	p.E2090K	KGRKIRRHKKEKEEKKRKKPVSQSL	KGRKIRRHKKEKKEKKRKKPVSQSL	9.0	3.0	-	-	4160_6:87969615-87969615 G>A_KGRKIRRHKKEKKEKKRKKPVSQSL
2:130738289-130738289 G>A	0.0	4160	COLON	-	-	-	-	RAB6C	ENST00000410061,p.V201I|uc002tpx.1,p.V201I|NM_032144,p.V201I	protein_coding	uc002tpx.1	nonsynonymous SNV	exon1	c.G601A	p.V201I	SDIKLEKPQEQTVSEGGCSCYSPMS	SDIKLEKPQEQTISEGGCSCYSPMS	5.0	3.0	-	-	4160_2:130738289-130738289 G>A_SDIKLEKPQEQTISEGGCSCYSPMS
14:21762902-21762902 T>G	0.0	4160	COLON	-	-	-	-	RPGRIP1	ENST00000557771,p.F51C|ENST00000556336,p.F51C|ENST00000400017,p.F51C|ENST00000206660,p.F51C|NM_020366,p.F51C|uc001wag.3,p.F51C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wag.3	nonsynonymous SNV	exon2	c.T152G	p.F51C	SRMNREELEDSFFRLREDHMLVKEL	SRMNREELEDSFCRLREDHMLVKEL	3.0	3.0	-	-	4160_14:21762902-21762902 T>G_SRMNREELEDSFCRLREDHMLVKEL
7:82475945-82475945 A>C	0.0	4160	COLON	-	-	-	-	PCLO	uc003uhu.1,p.L20R	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhu.1	nonsynonymous SNV	exon4	c.T59G	p.L20R	LVSKVGKQKYVDLNMLSDSENSQHL	LVSKVGKQKYVDRNMLSDSENSQHL	5.0	2.0	-	-	4160_7:82475945-82475945 A>C_LVSKVGKQKYVDRNMLSDSENSQHL
6:13230348-13230348 A>C	0.0	4160	COLON	-	-	-	-	PHACTR1	ENST00000379350,p.E438D|uc011dir.2,p.E507D|uc010jpc.3,p.E438D|uc003nag.2,p.E438D|ENST00000332995,p.E438D|ENST00000457702,p.E293D|uc003nah.2,p.E438D|NM_001242648,p.E438D|NM_030948,p.E438D	protein_coding, processed_transcript	uc011dir.2	nonsynonymous SNV	exon11	c.A1521C	p.E507D	IKLSNRPSKRELEEKNILPRQTDEE	IKLSNRPSKRELDEKNILPRQTDEE	4.0	3.0	-	-	4160_6:13230348-13230348 A>C_IKLSNRPSKRELDEKNILPRQTDEE
7:49815341-49815341 G>A	0.0	4160	COLON	-	-	-	-	VWC2	uc003tot.1,p.A104T|ENST00000340652,p.A104T|NM_198570,p.A104T	protein_coding	uc003tot.1	nonsynonymous SNV	exon2	c.G310A	p.A104T	KLKQAWVSQGGGAKAGDLQVRPRGD	KLKQAWVSQGGGTKAGDLQVRPRGD	1.0	2.0	-	-	4160_7:49815341-49815341 G>A_KLKQAWVSQGGGTKAGDLQVRPRGD
6:39835404-39835404 G>C	0.0	4160	COLON	-	-	-	-	DAAM2	uc003oox.3,p.A183P|uc010jxc.3,p.A183P|NM_001201427,p.A183P|ENST00000398904,p.A183P|ENST00000538976,p.A183P|ENST00000274867,p.A183P|NM_015345,p.A183P|uc003oow.3,p.A183P	retained_intron, protein_coding, processed_transcript	uc010jxc.3	nonsynonymous SNV	exon6	c.G547C	p.A183P	SRIHTSLIGCIKALMNNSQGRAHVL	SRIHTSLIGCIKPLMNNSQGRAHVL	5.0	1.0	-	-	4160_6:39835404-39835404 G>C_SRIHTSLIGCIKPLMNNSQGRAHVL
1:49242497-49242497 C>T	0.0	4160	COLON	-	-	-	-	BEND5	NM_024603,p.A3T|ENST00000371833,p.A3T|uc001crx.4,p.A3T	retained_intron, protein_coding, processed_transcript	uc001crx.4	nonsynonymous SNV	exon1	c.G7A	p.A3T	MYAFVRFLEDNVCYA	MYTFVRFLEDNVCYA	4.0	2.0	-	-	4160_1:49242497-49242497 C>T_MYTFVRFLEDNVCYA
1:6219425-6219425 C>T	0.0	4160	COLON	-	-	-	-	CHD5	ENST00000262450,p.E120K|uc001amb.2,p.E120K|NM_015557,p.E120K|ENST00000496404,p.E120K	protein_coding, nonsense_mediated_decay	uc001amb.2	nonsynonymous SNV	exon3	c.G358A	p.E120K	EKKAKRKKKDEDEDDNDDGCLKEPK	EKKAKRKKKDEDKDDNDDGCLKEPK	4.0	3.0	-	-	4160_1:6219425-6219425 C>T_EKKAKRKKKDEDKDDNDDGCLKEPK
19:33482856-33482856 G>A	1.0	4177	PANCREATIC	-	-	ID=COSM292514;OCCURENCE=1(large_intestine)	-	RHPN2	ENST00000254260,p.S506L|ENST00000400226,p.S355L|uc002nue.3,p.S236L|uc002nuf.3,p.S506L|uc010xro.2,p.S355L|NM_033103,p.S506L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xro.2	nonsynonymous SNV	exon12	c.C1064T	p.S355L	DFFQKLGPLSVFSANKRWTPPRSIR	DFFQKLGPLSVFLANKRWTPPRSIR	9.0	7.0	-	-	4177_19:33482856-33482856 G>A_DFFQKLGPLSVFLANKRWTPPRSIR
11:62495923-62495923 ->G	1.0	4177	PANCREATIC	-	-	-	-	TTC9C	uc001nux.3,p.R30fs|ENST00000513247,p.R30fs	retained_intron, protein_coding, nonsense_mediated_decay	uc001nux.3	frameshift insertion	exon1	c.89dupG	p.R30fs	STSPAHSLLLPGRGGAGPIERRKPV	STSPAHSLLLPGRGGGGSNRKAEASVPGVLTPATIPE	9.0	5.0	-	-	4177_11:62495923-62495923 ->G_STSPAHSLLLPGRGGGGSNRKAEASVPGVLTPATIPE
8:23431395-23431395 A>G	1.0	4177	PANCREATIC	-	-	-	-	SLC25A37,NKX3-1	uc003xds.3,p.K90E|ENST00000399967,p.K90E	protein_coding	uc003xds.3	nonsynonymous SNV	exon1	c.A268G	p.K90E	CSLNPHGDVESRKVHATVENVYISA	CSLNPHGDVESREVHATVENVYISA	7.0	3.0	unscreened	-	4177_8:23431395-23431395 A>G_CSLNPHGDVESREVHATVENVYISA
13:23906076-23906076 T>G	1.0	4177	PANCREATIC	-	-	-	-	SACS	ENST00000382292,p.E3980A|ENST00000382298,p.E3980A|NM_001278055,p.E3833A|NM_014363,p.E3980A|ENST00000402364,p.E3230A|uc001uon.3,p.E3980A|uc001uoo.3,p.E3833A	protein_coding, processed_transcript	uc001uoo.3	nonsynonymous SNV	exon8	c.A11498C	p.E3833A	KLRPRLLSSILEEQLDEETPKVCQF	KLRPRLLSSILEAQLDEETPKVCQF	6.0	6.0	unscreened	-	4177_13:23906076-23906076 T>G_KLRPRLLSSILEAQLDEETPKVCQF
19:53117175-53117175 G>T	1.0	4177	PANCREATIC	-	-	-	-	ZNF83	uc031rmp.1,p.H215N|NM_001277949,p.H215N|ENST00000544146,p.H215N|ENST00000597597,p.H215N|uc010epz.3,p.H215N|uc010epu.3,p.H215N|uc010epx.3,p.H215N|ENST00000541777,p.H215N|NM_001277952,p.H215N|uc031rmo.1,p.H215N|NM_001277946,p.H215N|uc031rml.1,p.H215N|ENST00000391789,p.H215N|uc031rmq.1,p.H215N|uc021uyx.1,p.H215N|NM_001277945,p.H215N|uc010epv.3,p.H215N|uc010eps.3,p.H215N|ENST00000545872,p.H215N|NM_001277948,p.H215N|uc010epw.3,p.H215N|uc031rmn.1,p.H215N|NM_001105552,p.H215N|NM_001105551,p.H215N|uc010epy.3,p.H215N|uc031rmm.1,p.H215N|uc002pzu.4,p.H215N|uc010ept.3,p.H215N|uc002pzv.4,p.H215N|NM_001277947,p.H215N|ENST00000536937,p.H215N|ENST00000301096,p.H215N|uc010eqb.2,p.H215N|NM_001277951,p.H215N|NM_001105549,p.H215N|NM_018300,p.H215N|NM_001105550,p.H215N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rmq.1	nonsynonymous SNV	exon4	c.C643A	p.H215N	KPYKCNECGKVFHQISHLAQHRTIH	KPYKCNECGKVFNQISHLAQHRTIH	9.0	1.0	unscreened	-	4177_19:53117175-53117175 G>T_KPYKCNECGKVFNQISHLAQHRTIH
2:27598547-27598547 C>T	1.0	4177	PANCREATIC	-	-	-	-	SNX17	uc010ylp.2,p.R292C|NM_001267060,p.R292C|uc010eza.2,p.R103C|NM_014748,p.R317C|NM_001267059,p.R305C|uc010ylo.2,p.R235C|uc010ylk.2,p.R103C|ENST00000543024,p.R103C|uc010yll.2,p.R103C|ENST00000233575,p.R317C|ENST00000542478,p.R103C|NM_001267061,p.R297C|uc010ylq.2,p.R103C|ENST00000537606,p.R292C|uc002rkh.2,p.R103C|uc002rkg.2,p.R317C|uc010ylm.2,p.R103C|uc010ylj.2,p.R297C|uc010yln.2,p.R305C	retained_intron, protein_coding, nonsense_mediated_decay	uc010ylq.2	nonsynonymous SNV	exon10	c.C307T	p.R103C	GQQLREGSFRVTRMRCWRVTSSVPL	GQQLREGSFRVTCMRCWRVTSSVPL	9.0	6.0	-	-	4177_2:27598547-27598547 C>T_GQQLREGSFRVTCMRCWRVTSSVPL
15:42138948-42138948 A>G	1.0	4177	PANCREATIC	-	-	-	-	JMJD7-PLA2G4B,PLA2G4B	NM_005090,p.N852S|uc010bcn.3,p.N852S|NM_001114633,p.N621S|ENST00000458483,p.N621S|uc001zoq.4,p.N322S|uc010bco.3,p.N621S|ENST00000382448,p.N852S|ENST00000452633,p.N621S|uc001zoo.4,p.N852S|NM_001198588,p.N852S|ENST00000342159,p.N852S	retained_intron, processed_transcript, nonsense_mediated_decay, protein_coding	uc010bco.3	nonsynonymous SNV	exon18	c.A1862G	p.N621S	PHLCLLDVGYLINTSCLPLLQPTRD	PHLCLLDVGYLISTSCLPLLQPTRD	6.0	10.0	-	-	4177_15:42138948-42138948 A>G_PHLCLLDVGYLISTSCLPLLQPTRD
14:23311710-23311710 C>T	1.0	4177	PANCREATIC	-	-	-	-	MMP14	ENST00000311852,p.R158C|uc001whc.3,p.R158C|NM_004995,p.R158C|ENST00000548761,p.R164C	retained_intron, protein_coding, processed_transcript	uc001whc.3	nonsynonymous SNV	exon4	c.C472T	p.R158C	KAFRVWESATPLRFREVPYAYIREG	KAFRVWESATPLCFREVPYAYIREG	10.0	10.0	CD8	-	4177_14:23311710-23311710 C>T_KAFRVWESATPLCFREVPYAYIREG
15:90611774-90611774 G>A	1.0	4177	PANCREATIC	-	-	-	-	ZNF710	uc002bov.2,p.G469S|ENST00000558883,p.G177S|NM_198526,p.G469S|ENST00000268154,p.G469S	protein_coding, processed_transcript	uc002bov.2	nonsynonymous SNV	exon2	c.G1405A	p.G469S	HQNVRPFVCTECGMEFSQIHHLKQH	HQNVRPFVCTECSMEFSQIHHLKQH	8.0	8.0	-	-	4177_15:90611774-90611774 G>A_HQNVRPFVCTECSMEFSQIHHLKQH
15:69695943-69695943 G>A	1.0	4177	PANCREATIC	-	-	-	-	PAQR5	NM_017705,p.V259M|ENST00000340965,p.V259M|ENST00000395407,p.V259M|uc002arz.2,p.V259M|ENST00000561153,p.V259M|uc002asa.2,p.V259M|NM_001104554,p.V259M	retained_intron, protein_coding, processed_transcript	uc002asa.2	nonsynonymous SNV	exon9	c.G775A	p.V259M	FDYIGHSHQLFHVCVILATHMQMEA	FDYIGHSHQLFHMCVILATHMQMEA	6.0	8.0	-	-	4177_15:69695943-69695943 G>A_FDYIGHSHQLFHMCVILATHMQMEA
4:157771520-157771520 C>T	1.0	4177	PANCREATIC	-	-	-	-	PDGFC	NM_016205,p.G56E|uc003iph.2,p.G56E|ENST00000422544,p.G56E|ENST00000502773,p.G56E	protein_coding, processed_transcript, nonsense_mediated_decay	uc003iph.2	nonsynonymous SNV	exon2	c.G167A	p.G56E	PQHERIITVSTNGSIHSPRFPHTYP	PQHERIITVSTNESIHSPRFPHTYP	9.0	6.0	-	-	4177_4:157771520-157771520 C>T_PQHERIITVSTNESIHSPRFPHTYP
2:1653181-1653181 C>T	1.0	4177	PANCREATIC	-	-	-	-	PXDN	uc002qxa.3,p.A791T|NM_012293,p.A791T|ENST00000252804,p.A791T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002qxa.3	nonsynonymous SNV	exon17	c.G2371A	p.A791T	RGINPHRLYNGHALPMPRLVSTTLI	RGINPHRLYNGHTLPMPRLVSTTLI	8.0	7.0	-	-	4177_2:1653181-1653181 C>T_RGINPHRLYNGHTLPMPRLVSTTLI
11:103027481-103027481 G>C	1.0	4177	PANCREATIC	-	-	-	-	DYNC2H1	ENST00000398093,p.R1370T|uc001pho.2,p.R1370T|NM_001080463,p.R1370T|NM_001377,p.R1370T|ENST00000375735,p.R1370T|uc001phn.1,p.R1370T	retained_intron, protein_coding, nonsense_mediated_decay	uc001pho.2	nonsynonymous SNV	exon26	c.G4109C	p.R1370T	RGALPKEQTRFNRVDEDFRSIMTDI	RGALPKEQTRFNTVDEDFRSIMTDI	6.0	5.0	unscreened	-	4177_11:103027481-103027481 G>C_RGALPKEQTRFNTVDEDFRSIMTDI
12:25398284-25398284 C>A	1.0	4177	PANCREATIC	-	-	ID=COSM1140133,COSM520;OCCURENCE=24(skin),10(breast),24(small_intestine),17(urinary_tract),2(genital_tract),2(kidney),1(eye),5(liver),1402(pancreas),39(prostate),110(biliary_tract),4060(large_intestine),1(autonomic_ganglia),245(ovary),4(soft_tissue),102(endometrium),13(thyroid),13(peritoneum),878(lung),6(testis),8(cervix),36(haematopoietic_and_lymphoid_tissue),2(pleura),9(gastrointestinal_tract_(site_indeterminate)),1(central_nervous_system),32(stomach),2(thymus),3(upper_aerodigestive_tract),4(oesophagus)	1	KRAS	ENST00000557334,p.G12V|ENST00000556131,p.G12V|uc001rgp.1,p.G12V|ENST00000256078,p.G12V|NM_033360,p.G12V|ENST00000311936,p.G12V|uc001rgq.1,p.G12V|NM_004985,p.G12V	protein_coding	uc001rgq.1	nonsynonymous SNV	exon2	c.G35T	p.G12V	MTEYKLVVVGAGGVGKSALTIQLI	MTEYKLVVVGAVGVGKSALTIQLI	9.0	9.0	-	-	4177_12:25398284-25398284 C>A_MTEYKLVVVGAVGVGKSALTIQLI
19:9325150-9325150 G>A	0.0	4177	PANCREATIC	-	-	-	-	OR7D4	ENST00000308682,p.R122W|uc002mla.2,p.R122W|NM_001005191,p.R122W	protein_coding	uc002mla.2	nonsynonymous SNV	exon1	c.C364T	p.R122W	MDTFLLAVMAYDRFVAICHPLHYTV	MDTFLLAVMAYDWFVAICHPLHYTV	1.0	8.0	-	-	4177_19:9325150-9325150 G>A_MDTFLLAVMAYDWFVAICHPLHYTV
3:122133418-122133418 C>A	1.0	4177	PANCREATIC	-	-	-	-	WDR5B	NM_019069,p.D320Y|ENST00000330689,p.D320Y|uc003efa.1,p.D320Y	protein_coding	uc003efa.1	nonsynonymous SNV	exon1	c.G958T	p.D320Y	TENLIASAALENDKTIKLWMSNH	TENLIASAALENYKTIKLWMSNH	6.0	8.0	-	-	4177_3:122133418-122133418 C>A_TENLIASAALENYKTIKLWMSNH
19:56467408-56467408 G>A	0.0	4177	PANCREATIC	-	-	-	-	NLRP8	ENST00000291971,p.V662I|ENST00000590542,p.V662I|NM_176811,p.V662I|uc002qmh.3,p.V662I|uc010etg.3,p.V662I	protein_coding	uc010etg.3	nonsynonymous SNV	exon3	c.G1984A	p.V662I	KRCQYLHEVELTVTLNFMNVWKLSS	KRCQYLHEVELTITLNFMNVWKLSS	1.0	8.0	-	-	4177_19:56467408-56467408 G>A_KRCQYLHEVELTITLNFMNVWKLSS
19:20045163-20045163 T>A	1.0	4177	PANCREATIC	-	-	-	-	ZNF93	ENST00000343769,p.S467T|uc002non.3,p.S467T|NM_031218,p.S467T	protein_coding, processed_transcript, nonsense_mediated_decay	uc002non.3	nonsynonymous SNV	exon4	c.T1399A	p.S467T	CEECGKAFNQSSSLTKHKKIHTGEK	CEECGKAFNQSSTLTKHKKIHTGEK	7.0	2.0	unscreened	-	4177_19:20045163-20045163 T>A_CEECGKAFNQSSTLTKHKKIHTGEK
19:53856097-53856097 G>T	1.0	4177	PANCREATIC	-	-	-	-	ZNF845	uc010ydv.1,p.E723D|ENST00000595091,p.E723D|NM_138374,p.E723D|uc010ydw.1,p.E723D|ENST00000458035,p.E723D	protein_coding	uc010ydw.1	nonsynonymous SNV	exon5	c.G2169T	p.E723D	AIHTGEKPYKCNECGKAFSQKSSLT	AIHTGEKPYKCNDCGKAFSQKSSLT	7.0	2.0	unscreened	-	4177_19:53856097-53856097 G>T_AIHTGEKPYKCNDCGKAFSQKSSLT
17:7579355-7579355 A>T	1.0	4177	PANCREATIC	-	-	ID=COSM707861,COSM1646885,COSM44630,COSM707860;OCCURENCE=1(lung),3(upper_aerodigestive_tract),1(skin),1(large_intestine)	1	TP53	uc010vug.3,p.L72Q|NM_001276695,p.L72Q|uc002gig.1,p.L111Q|NM_001126113,p.L111Q|uc031qyq.1,p.L72Q|NM_001276760,p.L72Q|ENST00000455263,p.L111Q|uc002gij.3,p.L72Q|uc002gih.3,p.L111Q|ENST00000269305,p.L111Q|ENST00000508793,p.L111Q|ENST00000359597,p.L111Q|ENST00000604348,p.L111Q|ENST00000413465,p.L111Q|NM_001126114,p.L111Q|NM_001126118,p.L72Q|NM_001276761,p.L72Q|NM_001276696,p.L72Q|uc010cnk.2,p.L126Q|ENST00000420246,p.L111Q|ENST00000503591,p.L111Q|NM_001126112,p.L111Q|NM_000546,p.L111Q|ENST00000445888,p.L111Q	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon3	c.T215A	p.L72Q	SQKTYQGSYGFRLGFLHSGTAKSVT	SQKTYQGSYGFRQGFLHSGTAKSVT	10.0	10.0	-	-	4177_17:7579355-7579355 A>T_SQKTYQGSYGFRQGFLHSGTAKSVT
19:58084233-58084233 T>A	1.0	4177	PANCREATIC	-	-	-	-	ZNF416	ENST00000196489,p.I347F|NM_017879,p.I347F|uc002qpf.3,p.I347F	protein_coding	uc002qpf.3	nonsynonymous SNV	exon4	c.A1039T	p.I347F	FSQSSNLIEHCRIHTGERPYECDEC	FSQSSNLIEHCRFHTGERPYECDEC	6.0	3.0	unscreened	-	4177_19:58084233-58084233 T>A_FSQSSNLIEHCRFHTGERPYECDEC
19:23836622-23836622 C>A	1.0	4177	PANCREATIC	-	-	-	-	ZNF675	ENST00000359788,p.E371D|NM_138330,p.E371D|uc002nri.3,p.E371D	retained_intron, protein_coding, nonsense_mediated_decay	uc002nri.3	nonsynonymous SNV	exon4	c.G1113T	p.E371D	KNIHTGEQPYKCEECGKAFNRSSNL	KNIHTGEQPYKCDECGKAFNRSSNL	7.0	5.0	unscreened	-	4177_19:23836622-23836622 C>A_KNIHTGEQPYKCDECGKAFNRSSNL
X:44918698-44918698 T>G	1.0	4177	PANCREATIC	-	-	-	1	KDM6A	ENST00000377967,p.I394S|NM_021140,p.I394S|uc011mkz.2,p.I394S|uc010nhk.2,p.I394S|NM_001291415,p.I394S|uc004dge.4,p.I394S	protein_coding, processed_transcript	uc011mkz.2	nonsynonymous SNV	exon12	c.T1181G	p.I394S	KSCSNTSALAARIKYLQAQLCNLPQ	KSCSNTSALAARSKYLQAQLCNLPQ	7.0	10.0	-	-	4177_X:44918698-44918698 T>G_KSCSNTSALAARSKYLQAQLCNLPQ
X:55514129-55514129 A>C	1.0	4177	PANCREATIC	-	-	-	-	USP51	ENST00000500968,p.F415C|uc022bxu.1,p.F415C|NM_201286,p.F415C|uc004dun.2,p.F415C	protein_coding, processed_transcript	uc022bxu.1	nonsynonymous SNV	exon1	c.T1244G	p.F415C	PSLCLVCEMSSLFHAMYSGSRTPHI	PSLCLVCEMSSLCHAMYSGSRTPHI	5.0	10.0	-	-	4177_X:55514129-55514129 A>C_PSLCLVCEMSSLCHAMYSGSRTPHI
18:13825888-13825888 G>C	0.0	4177	PANCREATIC	-	-	-	-	MC5R	uc010xaf.2,p.V42L|ENST00000324750,p.V42L|ENST00000589410,p.V42L|NM_005913,p.V42L	protein_coding	uc010xaf.2	nonsynonymous SNV	exon1	c.G124C	p.V42L	SSPCEDMGIAVEVFLTLGVISLLEN	SSPCEDMGIAVELFLTLGVISLLEN	1.0	10.0	-	-	4177_18:13825888-13825888 G>C_SSPCEDMGIAVELFLTLGVISLLEN
X:44918698-44918698 T>G	1.0	4177	PANCREATIC	-	-	-	1	KDM6A	uc022bvj.1,p.I394S|uc011mla.2,p.I394S|uc022bvi.1,p.I143S|NM_001291417,p.I394S|NM_001291418,p.I394S|ENST00000536777,p.I394S|uc011mlc.2,p.I143S|NM_001291421,p.I143S|ENST00000543216,p.I394S	protein_coding, processed_transcript	uc022bvj.1	nonsynonymous SNV	exon12	c.T1181G	p.I394S	KSCSNTSALAARIKYLQNTSDNWSG	KSCSNTSALAARSKYLQNTSDNWSG	7.0	10.0	-	-	4177_X:44918698-44918698 T>G_KSCSNTSALAARSKYLQNTSDNWSG
X:47774736-47774736 T>G	0.0	4177	PANCREATIC	-	-	-	-	ZNF81	uc010nhy.2,p.S231A|ENST00000376954,p.S231A|NM_007137,p.S231A|uc022bvq.1,p.S231A|ENST00000338637,p.S231A	protein_coding, processed_transcript	uc022bvq.1	nonsynonymous SNV	exon5	c.T691G	p.S231A	KTIGHGQVFTQNSSYSHHENTHTGV	KTIGHGQVFTQNASYSHHENTHTGV	6.0	1.0	-	-	4177_X:47774736-47774736 T>G_KTIGHGQVFTQNASYSHHENTHTGV
3:195513049-195513049 G>T	0.0	4177	PANCREATIC	-	-	-	2	MUC4	ENST00000462323,p.A1801E|ENST00000479406,p.A1801E|ENST00000475231,p.A1801E|ENST00000470451,p.A1801E|ENST00000463781,p.A1801E|ENST00000477756,p.A1801E|ENST00000478156,p.A1801E|NM_018406,p.A1801E|ENST00000480843,p.A1801E|ENST00000466475,p.A1801E|ENST00000477086,p.A1801E|uc021xjp.1,p.A1801E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C5402A	p.A1801E	DTTRLPVTDVSSASTGQAIPLPVTS	DTTRLPVTDVSSESTGQAIPLPVTS	7.0	2.0	unscreened	-	4177_3:195513049-195513049 G>T_DTTRLPVTDVSSESTGQAIPLPVTS
3:195505930-195505930 C>G	1.0	4177	PANCREATIC	-	-	-	2	MUC4	ENST00000477086,p.G4174A|ENST00000470451,p.G4174A|ENST00000477756,p.G4174A|NM_018406,p.G4174A|ENST00000480843,p.G4174A|ENST00000466475,p.G4174A|ENST00000478156,p.G4174A|ENST00000463781,p.G4174A|uc021xjp.1,p.G4174A|ENST00000475231,p.G4174A|ENST00000462323,p.G4174A|ENST00000479406,p.G4174A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G12521C	p.G4174A	PVTDASSVSTGHGTPLPVTSTSSAS	PVTDASSVSTGHATPLPVTSTSSAS	7.0	5.0	unscreened	-	4177_3:195505930-195505930 C>G_PVTDASSVSTGHATPLPVTSTSSAS
X:44918698-44918698 T>G	1.0	4177	PANCREATIC	-	-	-	1	KDM6A	uc011mlb.2,p.I394S|ENST00000382899,p.I394S|NM_001291416,p.I394S|uc011mld.2,p.I60S	protein_coding, processed_transcript	uc011mld.2	nonsynonymous SNV	exon2	c.T179G	p.I60S	KSCSNTSALAARIKYLQACKPHHPN	KSCSNTSALAARSKYLQACKPHHPN	7.0	10.0	-	-	4177_X:44918698-44918698 T>G_KSCSNTSALAARSKYLQACKPHHPN
19:20728254-20728254 C>G	1.0	4177	PANCREATIC	-	-	ID=COSM1471070;OCCURENCE=1(prostate)	-	ZNF737	NM_001159293,p.S252T|ENST00000594419,p.S188T|ENST00000427401,p.S252T|uc002npa.3,p.S252T	protein_coding, nonsense_mediated_decay	uc002npa.3	nonsynonymous SNV	exon4	c.G755C	p.S252T	RFSYLTAHKIIHSGEKPYKCEECGK	RFSYLTAHKIIHTGEKPYKCEECGK	7.0	1.0	unscreened	-	4177_19:20728254-20728254 C>G_RFSYLTAHKIIHTGEKPYKCEECGK
19:19823302-19823302 G>T	0.0	4177	PANCREATIC	-	-	-	-	ZNF14	uc002nnk.1,p.P263H|NM_021030,p.P263H|ENST00000344099,p.P263H	protein_coding	uc002nnk.1	nonsynonymous SNV	exon4	c.C788A	p.P263H	YECKQCGKAFSCPTYFRTHERTHTG	YECKQCGKAFSCHTYFRTHERTHTG	6.0	1.0	unscreened	-	4177_19:19823302-19823302 G>T_YECKQCGKAFSCHTYFRTHERTHTG
7:101256824-101256824 ->G	0.0	4177	PANCREATIC	-	-	-	-	MYL10	ENST00000223167,p.P204fs|uc003uyr.3,p.P204fs|NM_138403,p.P204fs	protein_coding	uc003uyr.3	frameshift insertion	exon8	c.611dupC	p.P204fs	EEEVKQMFAAFPPDVCGNLDYRNLC	EEEVKQMFAAFPPRCVRQPGLQKPVLRHHSR	2.0	1.0	unscreened	-	4177_7:101256824-101256824 ->G_EEEVKQMFAAFPPRCVRQPGLQKPVLRHHSR
2:233986820-233986820 T>A	0.0	4177	PANCREATIC	-	-	-	-	INPP5D	ENST00000538935,p.S68T|ENST00000422935,p.S68T|ENST00000359570,p.S68T|uc010zmo.2,p.S68T|ENST00000451407,p.S68T|uc010zmp.2,p.S68T	retained_intron, protein_coding, processed_transcript	uc010zmp.2	nonsynonymous SNV	exon3	c.T202A	p.S68T	LPNEDDKFTVQASEGVSMRFFTKLD	LPNEDDKFTVQATEGVSMRFFTKLD	5.0	5.0	unscreened	-	4177_2:233986820-233986820 T>A_LPNEDDKFTVQATEGVSMRFFTKLD
11:55681937-55681937 G>T	0.0	4177	PANCREATIC	-	-	-	-	OR5W2	NM_001001960,p.A41E|ENST00000344514,p.A41E|uc010rir.2,p.A41E	protein_coding	uc010rir.2	nonsynonymous SNV	exon1	c.C122A	p.A41E	AVFLAVYIINFSANLGMIVLIRMDY	AVFLAVYIINFSENLGMIVLIRMDY	1.0	9.0	-	-	4177_11:55681937-55681937 G>T_AVFLAVYIINFSENLGMIVLIRMDY
3:195508606-195508606 G>T	0.0	4177	PANCREATIC	-	-	-	2	MUC4	NM_018406,p.P3282H|ENST00000462323,p.P3282H|ENST00000466475,p.P3282H|ENST00000475231,p.P3282H|ENST00000479406,p.P3282H|uc021xjp.1,p.P3282H|ENST00000480843,p.P3282H|ENST00000478156,p.P3282H|ENST00000463781,p.P3282H|ENST00000470451,p.P3282H|ENST00000477756,p.P3282H|ENST00000477086,p.P3282H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C9845A	p.P3282H	TSSAYTGDTTSLPVTDTSSSSTGDT	TSSAYTGDTTSLHVTDTSSSSTGDT	7.0	4.0	unscreened	-	4177_3:195508606-195508606 G>T_TSSAYTGDTTSLHVTDTSSSSTGDT
18:48603038-48603038 ->TGCAGCAGCAGGCGGCTACTGCACAAGC	0.0	4177	PANCREATIC	-	-	-	1	SMAD4	uc010xdp.2,p.M447fs|ENST00000398417,p.M447fs|uc002lfb.4,p.M292fs|NM_005359,p.M447fs|ENST00000588745,p.M351fs|ENST00000342988,p.M447fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xdp.2	frameshift insertion	exon11	c.1339_1340insTGCAGCAGCAGGCGGCTACTGCACAAGC	p.M447fs	IKVFDLRQCHRQMQQQAATAQAAAA	IKVFDLRQCHRQMQQQAATAQAAAAGGYCTSCSSCPGSSRGRKHPWPRISRWNSSSYQSVSCCWNWC	9.0	7.0	unscreened	-	4177_18:48603038-48603038 ->TGCAGCAGCAGGCGGCTACTGCACAAGC_IKVFDLRQCHRQMQQQAATAQAAAAGGYCTSCSSCPGSSRGRKHPWPRISRWNSSSYQSVSCCWNWC
19:22499350-22499350 G>T	0.0	4177	PANCREATIC	-	-	-	-	ZNF729	ENST00000601693,p.G1044V|uc021urs.1,p.G1044V|ENST00000357491,p.G1016V|NM_001242680,p.G1044V	protein_coding	uc021urs.1	nonsynonymous SNV	exon4	c.G3131T	p.G1044V	FSALMKHKIIHTGEKPYKCEECGKA	FSALMKHKIIHTVEKPYKCEECGKA	2.0	7.0	unscreened	-	4177_19:22499350-22499350 G>T_FSALMKHKIIHTVEKPYKCEECGKA
12:124106330-124106339 GCTGACTGCT>-	1.0	4177	PANCREATIC	-	-	-	-	EIF2B1	ENST00000424014,p.S294fs|uc001ufm.3,p.S294fs|NM_001414,p.S294fs	retained_intron, protein_coding, processed_transcript	uc001ufm.3	frameshift deletion	exon9	c.882_891del	p.S294fs	TLLFTDLGVLTPSAVSDELIKLYL	TLLFTDLGVLTPSMSSSSSIC	9.0	5.0	-	-	4177_12:124106330-124106339 GCTGACTGCT>-_TLLFTDLGVLTPSMSSSSSIC
6:83748144-83748144 C>G	1.0	4177	PANCREATIC	-	-	-	-	UBE3D	uc003pjp.2,p.V220L|NM_198920,p.V220L|ENST00000509102,p.V220L|ENST00000369747,p.V220L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003pjp.2	nonsynonymous SNV	exon5	c.G658C	p.V220L	ICKRCKVMLGETVSSETTKFYMTEI	ICKRCKVMLGETLSSETTKFYMTEI	6.0	9.0	-	-	4177_6:83748144-83748144 C>G_ICKRCKVMLGETLSSETTKFYMTEI
19:21720223-21720223 C>A	1.0	4177	PANCREATIC	-	-	-	2	ZNF429	NM_001001415,p.N456K|uc002nqd.1,p.N456K|ENST00000358491,p.N456K	protein_coding, processed_transcript	uc002nqd.1	nonsynonymous SNV	exon4	c.C1368A	p.N456K	KRIHTEEKPYKCNECGKAFNRSSHL	KRIHTEEKPYKCKECGKAFNRSSHL	7.0	3.0	unscreened	-	4177_19:21720223-21720223 C>A_KRIHTEEKPYKCKECGKAFNRSSHL
6:83748144-83748144 C>G	1.0	4177	PANCREATIC	-	-	-	-	UBE3D	uc003pjr.3,p.V188L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003pjr.3	nonsynonymous SNV	exon6	c.G562C	p.V188L	ICKRCKVMLGETVSSGKNFITRSQN	ICKRCKVMLGETLSSGKNFITRSQN	6.0	9.0	-	-	4177_6:83748144-83748144 C>G_ICKRCKVMLGETLSSGKNFITRSQN
19:52793827-52793827 C>A	1.0	4177	PANCREATIC	-	-	-	-	ZNF766	ENST00000439461,p.H261Q|ENST00000593612,p.H276Q|uc002pyr.1,p.H261Q|NM_001010851,p.H261Q|ENST00000359102,p.H276Q|uc002pyt.1,p.H276Q	retained_intron, protein_coding	uc002pyt.1	nonsynonymous SNV	exon5	c.C828A	p.H276Q	GKLFNRIAYLARHEKVHTGESPYKC	GKLFNRIAYLARQEKVHTGESPYKC	7.0	2.0	unscreened	-	4177_19:52793827-52793827 C>A_GKLFNRIAYLARQEKVHTGESPYKC
14:92537353-92537353 ->GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	0.0	4177	PANCREATIC	-	-	-	-	ATXN3	uc021rzf.1,p.G38delinsGAAAAAAAAAAAA|NM_001164778,p.G144delinsGAAAAAAAAAAAA|uc021rzj.1,p.G23delinsGAAAAAAAAAAAA|NM_001164774,p.G78delinsGAAAAAAAAAAAA|uc021rza.1,p.G144delinsGAAAAAAAAAAAA|NM_001164777,p.G38delinsGAAAAAAAAAAAA|uc021rzd.1,p.G93delinsGAAAAAAAAAAAA|NM_001164776,p.G93delinsGAAAAAAAAAAAA|NM_001164782,p.G23delinsGAAAAAAAAAAAA|uc021rzi.1,p.G78delinsGAAAAAAAAAAAA	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021rzj.1	nonframeshift insertion	exon2	c.68_69insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	p.G23delinsGAAAAAAAAAAAA	AKAATAAAAAAAGGPIRTEFTSM	AKAATAAAAAAAGAAAAAAAAAAAA	8.0	8.0	unscreened	-	4177_14:92537353-92537353 ->GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT_AKAATAAAAAAAGAAAAAAAAAAAA
7:147815357-147815357 A>G	0.0	4177	PANCREATIC	-	-	-	2	CNTNAP2	NM_014141,p.D844G|ENST00000361727,p.D844G|uc003weu.2,p.D844G	protein_coding, processed_transcript	uc003weu.2	nonsynonymous SNV	exon16	c.A2531G	p.D844G	PWGVFLENMGKEDFIKLELKSATEV	PWGVFLENMGKEGFIKLELKSATEV	2.0	6.0	-	-	4177_7:147815357-147815357 A>G_PWGVFLENMGKEGFIKLELKSATEV
2:179517448-179517448 T>A	0.0	4177	PANCREATIC	-	-	-	-	TTN	ENST00000589042,p.K12992I|uc031rqc.1,p.K12992I|NM_001267550,p.K12992I	retained_intron, protein_coding	uc031rqc.1	nonsynonymous SNV	exon201	c.A38975T	p.K12992I	PEVPPVKVPEAPKEVVPEKKVPSAP	PEVPPVKVPEAPIEVVPEKKVPSAP	1.0	1.0	unscreened	-	4177_2:179517448-179517448 T>A_PEVPPVKVPEAPIEVVPEKKVPSAP
19:11978830-11978830 C>T	1.0	4177	PANCREATIC	-	-	-	-	ZNF439	uc002msr.3,p.H180Y|uc002mss.3,p.H316Y|ENST00000304030,p.H316Y|NM_152262,p.H316Y|ENST00000455282,p.H180Y	retained_intron, protein_coding, processed_transcript	uc002mss.3	nonsynonymous SNV	exon3	c.C946T	p.H316Y	GKAFMCPRYVRRHERTHSRKKLYEC	GKAFMCPRYVRRYERTHSRKKLYEC	6.0	1.0	unscreened	-	4177_19:11978830-11978830 C>T_GKAFMCPRYVRRYERTHSRKKLYEC
3:195512798-195512798 C>G	0.0	4177	PANCREATIC	-	-	-	2	MUC4	ENST00000480843,p.D1885H|ENST00000477756,p.D1885H|ENST00000463781,p.D1885H|ENST00000478156,p.D1885H|NM_018406,p.D1885H|uc021xjp.1,p.D1885H|ENST00000475231,p.D1885H|ENST00000462323,p.D1885H|ENST00000479406,p.D1885H|ENST00000466475,p.D1885H|ENST00000477086,p.D1885H|ENST00000470451,p.D1885H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G5653C	p.D1885H	LLVTDASSVSTGDTTPLPVTDTNSA	LLVTDASSVSTGHTTPLPVTDTNSA	7.0	2.0	unscreened	-	4177_3:195512798-195512798 C>G_LLVTDASSVSTGHTTPLPVTDTNSA
19:20229847-20229847 C>A	0.0	4177	PANCREATIC	-	-	-	-	ZNF90	uc002nor.2,p.A495D|NM_007138,p.A495D|ENST00000418063,p.A495D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nor.2	nonsynonymous SNV	exon4	c.C1484A	p.A495D	CQECDKAFKYSSALSTHKIIHSGEN	CQECDKAFKYSSDLSTHKIIHSGEN	7.0	1.0	unscreened	-	4177_19:20229847-20229847 C>A_CQECDKAFKYSSDLSTHKIIHSGEN
X:144904117-144904117 ->C	0.0	4177	PANCREATIC	-	-	ID=COSM1466167;OCCURENCE=1(large_intestine)	-	SLITRK2	uc010nso.3,p.Q58fs|uc011mws.2,p.Q58fs|uc011mwt.2,p.Q58fs|ENST00000370490,p.Q58fs|uc011mwr.2,p.Q58fs|uc004fcg.3,p.Q58fs|NM_032539,p.Q58fs|NM_001144009,p.Q58fs|ENST00000335565,p.Q58fs|uc022cfn.1,p.Q58fs|NM_001144010,p.Q58fs|ENST00000428560,p.Q58fs|ENST00000434188,p.Q58fs|NM_001144006,p.Q58fs|uc010nsp.3,p.Q58fs|uc004fcd.3,p.Q58fs|uc011mwq.2,p.Q58fs|NM_001144003,p.Q58fs|NM_001144005,p.Q58fs|NM_001144004,p.Q58fs|NM_001144008,p.Q58fs|ENST00000447897,p.Q58fs|ENST00000413937,p.Q58fs	protein_coding	uc022cfn.1	frameshift insertion	exon1	c.175dupC	p.Q58fs	CENKGFTTVSLLQPPQYRIYQLFLN	CENKGFTTVSLLQPPPVSNLSAFSQWKPLDKTVSKRICQLLQRGDSSPR	1.0	9.0	-	-	4177_X:144904117-144904117 ->C_CENKGFTTVSLLQPPPVSNLSAFSQWKPLDKTVSKRICQLLQRGDSSPR
1:12943097-12943097 G>T	0.0	4177	PANCREATIC	-	-	-	-	PRAMEF4	ENST00000235349,p.P40Q|uc001aun.2,p.P40Q|NM_001009611,p.P40Q	protein_coding	uc001aun.2	nonsynonymous SNV	exon2	c.C119A	p.P40Q	STLEELPTELFPPLFMEAFSRRRCE	STLEELPTELFPQLFMEAFSRRRCE	1.0	10.0	-	-	4177_1:12943097-12943097 G>T_STLEELPTELFPQLFMEAFSRRRCE
3:140401414-140401414 G>A	0.0	4177	PANCREATIC	-	-	-	-	TRIM42	uc003eto.2,p.R151Q|NM_152616,p.R151Q|ENST00000286349,p.R151Q	protein_coding	uc003eto.2	nonsynonymous SNV	exon2	c.G452A	p.R151Q	HLVNHLNCPMCSRLRLHSFMLPCNH	HLVNHLNCPMCSQLRLHSFMLPCNH	1.0	9.0	-	-	4177_3:140401414-140401414 G>A_HLVNHLNCPMCSQLRLHSFMLPCNH
12:12038904-12038904 ->CACTACTA	1.0	4177	PANCREATIC	-	-	-	1	ETV6	uc001qzz.3,p.R399fs|NM_001987,p.R399fs|ENST00000396373,p.R399fs	protein_coding, processed_transcript	uc001qzz.3	frameshift insertion	exon7	c.1197_1198insCACTACTA	p.R399fs	TNMTYEKMSRALRHYYKLNIIRKEP	TNMTYEKMSRALRHYYTTTN	9.0	7.0	-	-	4177_12:12038904-12038904 ->CACTACTA_TNMTYEKMSRALRHYYTTTN
12:130647727-130647727 C>A	0.0	4177	PANCREATIC	-	-	-	-	FZD10	uc001uii.3,p.H80Q|NM_007197,p.H80Q|ENST00000229030,p.H80Q	protein_coding	uc001uii.3	nonsynonymous SNV	exon1	c.C240A	p.H80Q	LHEFAPLVEYGCHGHLRFFLCSLYA	LHEFAPLVEYGCQGHLRFFLCSLYA	1.0	1.0	unscreened	-	4177_12:130647727-130647727 C>A_LHEFAPLVEYGCQGHLRFFLCSLYA
3:195513398-195513398 C>A	0.0	4177	PANCREATIC	-	-	-	2	MUC4	ENST00000480843,p.G1685C|ENST00000477086,p.G1685C|ENST00000462323,p.G1685C|ENST00000466475,p.G1685C|ENST00000478156,p.G1685C|ENST00000463781,p.G1685C|ENST00000477756,p.G1685C|ENST00000475231,p.G1685C|ENST00000470451,p.G1685C|ENST00000479406,p.G1685C|NM_018406,p.G1685C|uc021xjp.1,p.G1685C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G5053T	p.G1685C	ASTGHATPLPVTGLSSATTDDTTRL	ASTGHATPLPVTCLSSATTDDTTRL	7.0	3.0	unscreened	-	4177_3:195513398-195513398 C>A_ASTGHATPLPVTCLSSATTDDTTRL
1:155257871-155257871 C>T	1.0	4177	PANCREATIC	-	-	-	-	HCN3	NM_020897,p.R648C|uc010pfz.2,p.R343C|uc001fjz.2,p.R648C|ENST00000368358,p.R648C	protein_coding, processed_transcript	uc010pfz.2	nonsynonymous SNV	exon8	c.C1027T	p.R343C	DSPATLLARSAWRSAGSPASPLVPV	DSPATLLARSAWCSAGSPASPLVPV	5.0	6.0	-	-	4177_1:155257871-155257871 C>T_DSPATLLARSAWCSAGSPASPLVPV
1:228598777-228598777 G>T	1.0	4177	PANCREATIC	-	-	-	-	TRIM17	uc009xfb.2,p.T209K|ENST00000366698,p.T209K|NM_001024940,p.T209K|NM_016102,p.T209K|ENST00000479800,p.T182K|ENST00000295033,p.T209K|uc001hsu.3,p.T209K|ENST00000366697,p.T209K|ENST00000456946,p.T209K|NM_001134855,p.T209K|uc001hsv.3,p.T209K	protein_coding	uc009xfb.2	nonsynonymous SNV	exon4	c.C626A	p.T209K	VEEEQRLLQALETEEEETASRLRES	VEEEQRLLQALEKEEEETASRLRES	4.0	7.0	-	-	4177_1:228598777-228598777 G>T_VEEEQRLLQALEKEEEETASRLRES
11:89891334-89891334 T>G	0.0	4177	PANCREATIC	-	-	-	-	NAALAD2	NM_005467,p.V273G|NM_001300930,p.V273G|ENST00000534061,p.V273G|uc009yvx.3,p.V273G|ENST00000321955,p.V273G|uc001pdd.2,p.V273G|uc001pdf.4,p.V273G	retained_intron, protein_coding, nonsense_mediated_decay	uc009yvx.3	nonsynonymous SNV	exon7	c.T818G	p.V273G	GYPAKEYTFRLDVEEGVGIPRIPVH	GYPAKEYTFRLDGEEGVGIPRIPVH	5.0	2.0	-	-	4177_11:89891334-89891334 T>G_GYPAKEYTFRLDGEEGVGIPRIPVH
9:126135875-126135875 ->GCCCCTGCCCTTGGCGCG	0.0	4177	PANCREATIC	-	-	-	-	CRB2	uc004bnx.1,p.L1022delinsLPLPLAR|ENST00000359999,p.L1022delinsLPLPLAR|ENST00000373629,p.L690delinsLPLPLAR|ENST00000460253,p.L690delinsLPLPLAR|uc004bnw.1,p.L1022delinsLPLPLAR|NM_173689,p.L1022delinsLPLPLAR|ENST00000373631,p.L1022delinsLPLPLAR	protein_coding, nonsense_mediated_decay	uc004bnx.1	nonframeshift insertion	exon10	c.3065_3066insGCCCCTGCCCTTGGCGCG	p.L1022delinsLPLPLAR	FTGCLGRVALGGLPLPLARPRPGAA	FTGCLGRVALGGLPLPLARPLPLAR	4.0	1.0	unscreened	-	4177_9:126135875-126135875 ->GCCCCTGCCCTTGGCGCG_FTGCLGRVALGGLPLPLARPLPLAR
19:12575128-12575128 C>A	0.0	4177	PANCREATIC	-	-	-	-	ZNF709	ENST00000397732,p.Q536H|uc002mtv.4,p.Q536H|NM_152601,p.Q536H|ENST00000428311,p.Q536H|uc002mtw.4,p.Q504H|uc002mtx.4,p.Q536H	 processed_transcript,protein_coding	uc002mtx.4	nonsynonymous SNV	exon4	c.G1608T	p.Q536H	RTHTGEKPYECKQCGKAFSCSSSIR	RTHTGEKPYECKHCGKAFSCSSSIR	5.0	3.0	unscreened	-	4177_19:12575128-12575128 C>A_RTHTGEKPYECKHCGKAFSCSSSIR
3:195513467-195513467 C>T	0.0	4177	PANCREATIC	-	-	-	2	MUC4	ENST00000480843,p.A1662T|NM_018406,p.A1662T|ENST00000479406,p.A1662T|uc021xjp.1,p.A1662T|ENST00000475231,p.A1662T|ENST00000463781,p.A1662T|ENST00000462323,p.A1662T|ENST00000466475,p.A1662T|ENST00000477086,p.A1662T|ENST00000470451,p.A1662T|ENST00000477756,p.A1662T|ENST00000478156,p.A1662T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G4984A	p.A1662T	HVTSPSSASTGHATPLPVTSTSSAS	HVTSPSSASTGHTTPLPVTSTSSAS	7.0	6.0	unscreened	-	4177_3:195513467-195513467 C>T_HVTSPSSASTGHTTPLPVTSTSSAS
19:37239915-37239915 G>T	0.0	4177	PANCREATIC	-	-	-	-	ZNF850	uc010efc.3,p.P676Q|uc010xtm.3,p.P644Q|NM_001193552,p.P676Q|ENST00000591344,p.P676Q|NM_001267779,p.P644Q	protein_coding	uc010xtm.3	nonsynonymous SNV	exon4	c.C1931A	p.P644Q	HRIHTGEKPYECPDCGKAFRQRTYL	HRIHTGEKPYECQDCGKAFRQRTYL	4.0	2.0	unscreened	-	4177_19:37239915-37239915 G>T_HRIHTGEKPYECQDCGKAFRQRTYL
8:69046324-69046324 T>G	0.0	4177	PANCREATIC	-	-	ID=COSM1262996;OCCURENCE=1(oesophagus)	1	PREX2	NM_024870,p.V1266G|uc003xxv.1,p.V1266G|ENST00000288368,p.V1266G	protein_coding, processed_transcript	uc003xxv.1	nonsynonymous SNV	exon32	c.T3797G	p.V1266G	YSDSETQLRRDMVFCQTLVATVCAF	YSDSETQLRRDMGFCQTLVATVCAF	3.0	5.0	unscreened	-	4177_8:69046324-69046324 T>G_YSDSETQLRRDMGFCQTLVATVCAF
9:43626759-43626759 G>A	0.0	4177	PANCREATIC	-	rs2491539	-	-	SPATA31A6	ENST00000332857,p.T643M|uc011lrb.2,p.T643M|NM_001145196,p.T643M	protein_coding, processed_transcript	uc011lrb.2	nonsynonymous SNV	exon4	c.C1928T	p.T643M	QAKGKPSPWQSSTSTGESSKEAQKV	QAKGKPSPWQSSMSTGESSKEAQKV	1.0	9.0	-	-	4177_9:43626759-43626759 G>A_QAKGKPSPWQSSMSTGESSKEAQKV
22:18835523-18835523 T>C	0.0	4177	PANCREATIC	-	rs200326813	-	-	GGT3P,DGCR6	ENST00000342005,p.V360A|uc002zoc.3,p.V360A	protein_coding	uc002zoc.3	nonsynonymous SNV	exon1	c.T1079C	p.V360A	LIPAPFPAASMDVGMRRTRCGTSAP	LIPAPFPAASMDAGMRRTRCGTSAP	1.0	9.0	unscreened	-	4177_22:18835523-18835523 T>C_LIPAPFPAASMDAGMRRTRCGTSAP
10:100401662-100401662 T>A	0.0	4177	PANCREATIC	-	-	-	-	HPSE2	NM_001166244,p.D289V|uc001kpo.2,p.D289V|uc009xwc.2,p.D347V|uc009xwd.2,p.D235V|ENST00000370546,p.D347V|ENST00000370549,p.D289V|ENST00000370552,p.D347V|NM_001166245,p.D235V|NM_001166246,p.D347V|ENST00000404542,p.D235V|uc001kpn.2,p.D347V|NM_021828,p.D347V	protein_coding	uc009xwd.2	nonsynonymous SNV	exon5	c.A704T	p.D235V	HCYIDGRVVKVMDFLKTRLLDTLSD	HCYIDGRVVKVMVFLKTRLLDTLSD	1.0	7.0	-	-	4177_10:100401662-100401662 T>A_HCYIDGRVVKVMVFLKTRLLDTLSD
19:24116196-24116196 G>T	0.0	4177	PANCREATIC	-	-	-	-	ZNF726	ENST00000594466,p.K426N|uc021urw.1,p.K426N|NM_001244038,p.K426N|ENST00000322487,p.K426N	protein_coding	uc021urw.1	nonsynonymous SNV	exon4	c.G1278T	p.K426N	KHKIIHTGEKPYKCEECGKAFIWSS	KHKIIHTGEKPYNCEECGKAFIWSS	5.0	2.0	unscreened	-	4177_19:24116196-24116196 G>T_KHKIIHTGEKPYNCEECGKAFIWSS
19:23329177-23329177 G>T	0.0	4177	PANCREATIC	-	-	-	-	ZNF730	uc031rkc.1,p.R444I|NM_001277403,p.R444I|ENST00000597761,p.R444I	protein_coding	uc031rkc.1	nonsynonymous SNV	exon4	c.G1331T	p.R444I	AFNQSSTLTTHKRIHTGEKPYECEE	AFNQSSTLTTHKIIHTGEKPYECEE	2.0	2.0	unscreened	-	4177_19:23329177-23329177 G>T_AFNQSSTLTTHKIIHTGEKPYECEE
19:21720265-21720265 C>A	1.0	4177	PANCREATIC	-	-	-	2	ZNF429	ENST00000358491,p.S470R|NM_001001415,p.S470R|uc002nqd.1,p.S470R	protein_coding, processed_transcript	uc002nqd.1	nonsynonymous SNV	exon4	c.C1410A	p.S470R	CGKAFNRSSHLTSHRRIHTGEKPYK	CGKAFNRSSHLTRHRRIHTGEKPYK	7.0	4.0	unscreened	-	4177_19:21720265-21720265 C>A_CGKAFNRSSHLTRHRRIHTGEKPYK
22:23653975-23653975 ->CCGG	0.0	4177	PANCREATIC	-	-	-	1	BCR	NM_021574,p.S1048fs|uc002zwx.3,p.S1048fs|ENST00000305877,p.S1092fs|uc002zww.3,p.S1092fs|NM_004327,p.S1092fs|uc011aiy.2,p.S681fs|ENST00000359540,p.S1048fs	retained_intron, protein_coding, processed_transcript	uc011aiy.2	frameshift insertion	exon19	c.2041_2042insCCGG	p.S681fs	RRGMEEVGIYRVSGVATDIQALKAA	RRGMEEVGIYRVSGRCGHGHPGTEGSLRRQ	9.0	5.0	unscreened	-	4177_22:23653975-23653975 ->CCGG_RRGMEEVGIYRVSGRCGHGHPGTEGSLRRQ
11:6644247-6644247 C>T	0.0	4177	PANCREATIC	-	-	-	-	DCHS1	uc001mem.1,p.G2887E|ENST00000299441,p.G2887E|NM_003737,p.G2887E	protein_coding	uc001mem.1	nonsynonymous SNV	exon21	c.G8660A	p.G2887E	RAPGSGTATSGGGGRTRREAPRELR	RAPGSGTATSGGEGRTRREAPRELR	3.0	9.0	-	-	4177_11:6644247-6644247 C>T_RAPGSGTATSGGEGRTRREAPRELR
19:20807349-20807349 C>A	0.0	4177	PANCREATIC	-	-	ID=COSM265098;OCCURENCE=1(large_intestine)	-	ZNF626	uc002npb.1,p.R445I|uc002npc.1,p.R369I|ENST00000601440,p.R445I|NM_001076675,p.R445I	protein_coding	uc002npc.1	nonsynonymous SNV	exon2	c.G1106T	p.R369I	AFNQSSILTTHRRIHTGEKFYKCEE	AFNQSSILTTHRIIHTGEKFYKCEE	2.0	4.0	unscreened	-	4177_19:20807349-20807349 C>A_AFNQSSILTTHRIIHTGEKFYKCEE
19:57910637-57910637 C>A	0.0	4177	PANCREATIC	-	-	-	-	ZNF548	uc002qom.3,p.Q328K|NM_152909,p.Q328K|uc002qon.3,p.Q340K|NM_001172773,p.Q340K|ENST00000366197,p.Q328K|ENST00000336128,p.Q340K	retained_intron, protein_coding, nonsense_mediated_decay	uc002qon.3	nonsynonymous SNV	exon4	c.C1018A	p.Q340K	KFFMDSSTLIKHQRVHTGERPYKCN	KFFMDSSTLIKHKRVHTGERPYKCN	7.0	3.0	unscreened	-	4177_19:57910637-57910637 C>A_KFFMDSSTLIKHKRVHTGERPYKCN
21:46011995-46011995 C>T	0.0	4177	PANCREATIC	-	-	-	-	KRTAP10-6	ENST00000400368,p.C124Y|uc002zfm.3,p.C124Y|NM_198688,p.C124Y	protein_coding	uc002zfm.3	nonsynonymous SNV	exon1	c.G371A	p.C124Y	PVCCKTVCCKPVCCVSVCCGDSSCC	PVCCKTVCCKPVYCVSVCCGDSSCC	1.0	4.0	unscreened	-	4177_21:46011995-46011995 C>T_PVCCKTVCCKPVYCVSVCCGDSSCC
10:38407109-38407109 C>A	1.0	4177	PANCREATIC	-	-	-	-	ZNF37A	NM_003421,p.Q344K|uc001izm.3,p.Q344K|uc001izk.3,p.Q344K|uc001izl.3,p.Q344K|NM_001178101,p.Q344K|NM_001007094,p.Q344K|ENST00000351773,p.Q344K|ENST00000361085,p.Q344K	protein_coding, processed_transcript	uc001izm.3	nonsynonymous SNV	exon7	c.C1030A	p.Q344K	CGKSFSEKSTLTQHQRTHTGEKPYE	CGKSFSEKSTLTKHQRTHTGEKPYE	7.0	3.0	unscreened	-	4177_10:38407109-38407109 C>A_CGKSFSEKSTLTKHQRTHTGEKPYE
14:92537353-92537353 ->GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	0.0	4177	PANCREATIC	-	-	-	-	ATXN3	uc001yae.4,p.G208delinsEQQQQQQQQQQQR|ENST00000532032,p.G306delinsEQQQQQQQQQQQR|NM_001127696,p.G291delinsEQQQQQQQQQQQR|NM_004993,p.G306delinsEQQQQQQQQQQQR|uc021sao.1,p.G240delinsEQQQQQQQQQQQR|uc021sar.1,p.G148delinsEQQQQQQQQQQQR|ENST00000503767,p.G291delinsEQQQQQQQQQQQR|ENST00000545170,p.G315delinsEQQQQQQQQQQQR|uc021sae.1,p.G305delinsEQQQQQQQQQQQR|uc001yac.4,p.G306delinsEQQQQQQQQQQQR|uc021rze.1,p.G127delinsEQQQQQQQQQQQR|uc010twl.2,p.G127delinsEQQQQQQQQQQQR|ENST00000502250,p.G127delinsEQQQQQQQQQQQR|ENST00000340660,p.G251delinsEQQQQQQQQQQQR|ENST00000429774,p.G299delinsEQQQQQQQQQQQR|NM_001164779,p.G185delinsEQQQQQQQQQQQR|uc021san.1,p.G254delinsEQQQQQQQQQQQR|uc021ryx.1,p.G236delinsEQQQQQQQQQQQR|uc021rys.1,p.G208delinsEQQQQQQQQQQQR|NM_001127697,p.G255delinsEQQQQQQQQQQQR|NM_001164780,p.G127delinsEQQQQQQQQQQQR|uc021rzo.1,p.G306delinsEQQQQQQQQQQQR|uc021rzv.1,p.G261delinsEQQQQQQQQQQQR|uc021rzp.1,p.G208delinsEQQQQQQQQQQQR|NM_030660,p.G251delinsEQQQQQQQQQQQR|uc021ryy.1,p.G185delinsEQQQQQQQQQQQR|uc021ryu.1,p.G255delinsEQQQQQQQQQQQR|NM_001164781,p.G236delinsEQQQQQQQQQQQR|ENST00000393287,p.G306delinsEQQQQQQQQQQQR|uc001yad.4,p.G251delinsEQQQQQQQQQQQR|uc021sag.1,p.G200delinsEQQQQQQQQQQQR|uc010aug.3,p.G291delinsEQQQQQQQQQQQR|uc021sal.1,p.G208delinsEQQQQQQQQQQQR	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021sar.1	nonframeshift insertion	exon5	c.442_443insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	p.G148delinsEQQQQQQQQQQQR	QKQQQQQQQQQQGDLSGQSSHPCER	QKQQQQQQQQQQEQQQQQQQQQQQR	8.0	8.0	unscreened	-	4177_14:92537353-92537353 ->GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT_QKQQQQQQQQQQEQQQQQQQQQQQR
14:92537353-92537353 ->GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	0.0	4177	PANCREATIC	-	-	-	-	ATXN3	uc021sai.1,p.G190delinsSSSSSSSSSSSSG	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021sai.1	nonframeshift insertion	exon8	c.567_568insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	p.G190delinsSSSSSSSSSSSSG	KSSNSSSSSSSRGTYQDRVHIHVKG	KSSNSSSSSSSRSSSSSSSSSSSSG	8.0	8.0	unscreened	-	4177_14:92537353-92537353 ->GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT_KSSNSSSSSSSRSSSSSSSSSSSSG
19:55147988-55147988 A>C	0.0	4177	PANCREATIC	-	rs202204734	-	-	LILRB1	ENST00000396332,p.E565A|uc010erq.3,p.E548A|NM_006669,p.E564A|uc002qgj.3,p.E564A|uc002qgm.3,p.E566A|ENST00000396331,p.E564A|ENST00000396315,p.E566A|ENST00000396327,p.E565A|NM_001081638,p.E565A|ENST00000418536,p.E548A|ENST00000324602,p.E566A|NM_001081639,p.E565A|ENST00000396317,p.E548A|uc002qgl.3,p.E565A|uc002qgk.3,p.E565A|NM_001081637,p.E566A|ENST00000427581,p.E615A|NM_001278398,p.E548A|ENST00000434867,p.E564A|ENST00000396321,p.E564A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010erq.3	nonsynonymous SNV	exon12	c.A1643C	p.E548A	PHDEDPQAVTYAEVKHSRPRREMAS	PHDEDPQAVTYAAVKHSRPRREMAS	3.0	3.0	unscreened	-	4177_19:55147988-55147988 A>C_PHDEDPQAVTYAAVKHSRPRREMAS
19:55147987-55147987 G>C	0.0	4177	PANCREATIC	-	rs41308744	-	-	LILRB1	NM_006669,p.E564Q|ENST00000396321,p.E564Q|uc002qgk.3,p.E565Q|ENST00000427581,p.E615Q|ENST00000396332,p.E565Q|ENST00000396327,p.E565Q|ENST00000396317,p.E548Q|uc002qgj.3,p.E564Q|NM_001081637,p.E566Q|ENST00000434867,p.E564Q|ENST00000396315,p.E566Q|uc002qgm.3,p.E566Q|ENST00000396331,p.E564Q|ENST00000324602,p.E566Q|NM_001278398,p.E548Q|uc002qgl.3,p.E565Q|NM_001081639,p.E565Q|uc010erq.3,p.E548Q|ENST00000418536,p.E548Q|NM_001081638,p.E565Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010erq.3	nonsynonymous SNV	exon12	c.G1642C	p.E548Q	PHDEDPQAVTYAEVKHSRPRREMAS	PHDEDPQAVTYAQVKHSRPRREMAS	3.0	4.0	unscreened	-	4177_19:55147987-55147987 G>C_PHDEDPQAVTYAQVKHSRPRREMAS
12:124401007-124401007 G>A	0.0	4177	PANCREATIC	-	-	ID=COSM692441,COSM692442;OCCURENCE=1(lung)	-	DNAH10	ENST00000409039,p.A3458T|NM_207437,p.A3458T|uc001uft.4,p.A3458T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uft.4	nonsynonymous SNV	exon62	c.G10372A	p.A3458T	IKRKEEKNNLRVASFNDPDFLKQLE	IKRKEEKNNLRVTSFNDPDFLKQLE	2.0	4.0	unscreened	-	4177_12:124401007-124401007 G>A_IKRKEEKNNLRVTSFNDPDFLKQLE
2:1893215-1893215 A>G	0.0	4177	PANCREATIC	-	-	-	-	MYT1L	uc002qxe.3,p.L773P|NM_015025,p.L771P|uc002qxd.3,p.L771P|ENST00000399161,p.L773P|ENST00000428368,p.L771P	retained_intron, protein_coding, processed_transcript	uc002qxe.3	nonsynonymous SNV	exon16	c.T2318C	p.L773P	RNPDMEVDENGTLDLSMNKQRPRDS	RNPDMEVDENGTPDLSMNKQRPRDS	1.0	6.0	-	-	4177_2:1893215-1893215 A>G_RNPDMEVDENGTPDLSMNKQRPRDS
5:23526915-23526915 T>G	0.0	4177	PANCREATIC	-	-	-	-	PRDM9	NM_020227,p.I573R|uc003jgo.3,p.I573R|ENST00000296682,p.I573R	protein_coding	uc003jgo.3	nonsynonymous SNV	exon11	c.T1718G	p.I573R	FSWKSHLLIHQRIHTGEKPYVCREC	FSWKSHLLIHQRRHTGEKPYVCREC	2.0	4.0	unscreened	-	4177_5:23526915-23526915 T>G_FSWKSHLLIHQRRHTGEKPYVCREC
2:1926301-1926301 A>G	0.0	4177	PANCREATIC	-	-	-	-	MYT1L	ENST00000428368,p.S414P|NM_015025,p.S414P|uc002qxd.3,p.S414P|uc002qxe.3,p.S414P|ENST00000602387,p.S68P|ENST00000399161,p.S414P	retained_intron, protein_coding, processed_transcript	uc002qxe.3	nonsynonymous SNV	exon10	c.T1240C	p.S414P	EDGCHERDDDTTSVNSDRSEEVFDM	EDGCHERDDDTTPVNSDRSEEVFDM	1.0	7.0	-	-	4177_2:1926301-1926301 A>G_EDGCHERDDDTTPVNSDRSEEVFDM
6:170627659-170627659 G>A	1.0	4177	PANCREATIC	-	-	-	-	FAM120B	NM_001286379,p.G406D|ENST00000540480,p.G406D|NM_001286380,p.G417D|ENST00000537664,p.G417D|ENST00000366751,p.G394D|uc003qxo.1,p.G394D|NM_032448,p.G394D|uc003qxp.3,p.G394D|ENST00000476287,p.G394D	protein_coding, processed_transcript, nonsense_mediated_decay	uc003qxp.3	nonsynonymous SNV	exon2	c.G1181A	p.G394D	DPEPRQEVPTCTGPESRREVPMCSD	DPEPRQEVPTCTDPESRREVPMCSD	7.0	4.0	unscreened	-	4177_6:170627659-170627659 G>A_DPEPRQEVPTCTDPESRREVPMCSD
X:140994634-140994634 G>C	0.0	4177	PANCREATIC	-	-	-	-	MAGEC1	NM_005462,p.V482L|uc004fbt.3,p.V482L|ENST00000285879,p.V482L|uc022cfi.1,p.V141L	protein_coding	uc022cfi.1	nonsynonymous SNV	exon1	c.G421C	p.V141L	FEGFPQSPLQIPVSSSSSSSTLLSL	FEGFPQSPLQIPLSSSSSSSTLLSL	1.0	4.0	-	-	4177_X:140994634-140994634 G>C_FEGFPQSPLQIPLSSSSSSSTLLSL
2:242066069-242066069 T>C	1.0	4177	PANCREATIC	-	-	-	-	PASK	uc021vzf.1,p.Q754R|ENST00000403638,p.Q754R|uc010fzl.2,p.Q754R|NM_001252120,p.Q754R|ENST00000544142,p.Q568R|NM_015148,p.Q754R|uc002wao.2,p.Q754R|ENST00000539818,p.Q538R|ENST00000405260,p.Q754R|uc010zom.2,p.Q719R|uc002wap.3,p.Q297R|NM_001252124,p.Q754R|ENST00000358649,p.Q754R|uc010zon.2,p.Q535R|uc002waq.3,p.Q754R|uc010zol.2,p.Q568R|NM_001252119,p.Q754R|NM_001252122,p.Q719R|ENST00000234040,p.Q754R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vzf.1	nonsynonymous SNV	exon11	c.A2261G	p.Q754R	NLKELFFSDQTDQTSSNCSCATSEL	NLKELFFSDQTDRTSSNCSCATSEL	6.0	8.0	-	-	4177_2:242066069-242066069 T>C_NLKELFFSDQTDRTSSNCSCATSEL
1:152190656-152190656 C>A	0.0	4177	PANCREATIC	-	-	-	-	HRNR	ENST00000368801,p.R1150L|NM_001009931,p.R1150L|uc001ezt.2,p.R1150L	protein_coding	uc001ezt.2	nonsynonymous SNV	exon3	c.G3449T	p.R1150L	SPSYGRHGSGSGRSSSSGQHGSGLG	SPSYGRHGSGSGLSSSSGQHGSGLG	1.0	6.0	unscreened	-	4177_1:152190656-152190656 C>A_SPSYGRHGSGSGLSSSSGQHGSGLG
22:29709341-29709341 C>A	1.0	4177	PANCREATIC	-	-	-	-	RASL10A	uc031rxl.1,p.G120C	protein_coding, processed_transcript	uc031rxl.1	nonsynonymous SNV	exon2	c.G358T	p.G120C	ALRSGARAPCTPGPAPAGGAASRAL	ALRSGARAPCTPCPAPAGGAASRAL	4.0	6.0	unscreened	-	4177_22:29709341-29709341 C>A_ALRSGARAPCTPCPAPAGGAASRAL
4:144465070-144465070 A>T	1.0	4180	BREAST	-	-	-	-	SMARCA5	uc003ijg.3,p.D706V|ENST00000283131,p.D706V|NM_003601,p.D706V	retained_intron, protein_coding	uc003ijg.3	nonsynonymous SNV	exon16	c.A2117T	p.D706V	KMGESSLRNFTMDTESSVYNFEGED	KMGESSLRNFTMVTESSVYNFEGED	8.0	10.0	unscreened	-	4180_4:144465070-144465070 A>T_KMGESSLRNFTMVTESSVYNFEGED
7:103828796-103828796 G>T	1.0	4180	BREAST	-	-	-	-	ORC5	uc003vcc.3,p.P196H|ENST00000545943,p.P64H|ENST00000297431,p.P196H|ENST00000447452,p.P196H|NM_002553,p.P196H|uc003vcb.3,p.P196H|NM_181747,p.P196H|uc011klp.2,p.P64H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011klp.2	nonsynonymous SNV	exon7	c.C191A	p.P64H	IGNLQKILSHDHPPEYSADFYAAYI	IGNLQKILSHDHHPEYSADFYAAYI	8.0	8.0	unscreened	-	4180_7:103828796-103828796 G>T_IGNLQKILSHDHHPEYSADFYAAYI
21:30434492-30434492 C>A	1.0	4180	BREAST	-	-	-	-	CCT8	ENST00000286788,p.R390M|uc002ynb.3,p.R390M|uc011acp.2,p.R371M|NM_006585,p.R390M|NM_001282907,p.R371M|ENST00000542732,p.R371M|uc002yna.3,p.R339M|uc011acq.2,p.R317M|ENST00000540844,p.R317M|NM_001282908,p.R339M|NM_001282909,p.R317M	retained_intron, protein_coding, processed_transcript	uc011acq.2	nonsynonymous SNV	exon10	c.G950T	p.R317M	RGSTDNLMDDIERAVDDGVNTFKVL	RGSTDNLMDDIEMAVDDGVNTFKVL	10.0	8.0	CD8	-	4180_21:30434492-30434492 C>A_RGSTDNLMDDIEMAVDDGVNTFKVL
5:74009401-74009401 G>A	1.0	4180	BREAST	-	-	-	-	HEXB	NM_001292004,p.R56Q|NM_000521,p.R281Q|ENST00000261416,p.R281Q|ENST00000511181,p.R56Q|uc003kdd.3,p.R56Q|uc003kdf.4,p.R281Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003kdf.4	nonsynonymous SNV	exon7	c.G842A	p.R281Q	NDVRMVIEYARLRGIRVLPEFDTPG	NDVRMVIEYARLQGIRVLPEFDTPG	10.0	9.0	-	-	4180_5:74009401-74009401 G>A_NDVRMVIEYARLQGIRVLPEFDTPG
8:119122860-119122860 C>G	1.0	4180	BREAST	-	-	-	1	EXT1	ENST00000378204,p.R142S|NM_000127,p.R142S|uc003yok.1,p.R142S	protein_coding, nonsense_mediated_decay	uc003yok.1	nonsynonymous SNV	exon1	c.G426C	p.R142S	SYQNILAAIEGSRFYTSDPSQACLF	SYQNILAAIEGSSFYTSDPSQACLF	9.0	10.0	unscreened	-	4180_8:119122860-119122860 C>G_SYQNILAAIEGSSFYTSDPSQACLF
9:95043162-95043162 G>T	1.0	4180	BREAST	-	-	-	-	IARS	NM_013417,p.P204H|ENST00000443024,p.P204H|uc004ars.2,p.P49H|ENST00000375643,p.P204H|NM_002161,p.P204H|uc004art.2,p.P204H|ENST00000447699,p.P94H|uc004aru.4,p.P204H|ENST00000395554,p.P204H|uc010mqr.3,p.P94H	protein_coding, processed_transcript	uc010mqr.3	nonsynonymous SNV	exon6	c.C281A	p.P94H	FESHQNYKDVQDPSVFVTFPLEEDE	FESHQNYKDVQDHSVFVTFPLEEDE	10.0	3.0	unscreened	-	4180_9:95043162-95043162 G>T_FESHQNYKDVQDHSVFVTFPLEEDE
1:151288482-151288482 T>G	1.0	4180	BREAST	-	-	-	-	PI4KB	NM_002651,p.Y171S|ENST00000368874,p.Y159S|ENST00000368873,p.Y159S|uc001ext.3,p.Y159S|ENST00000438243,p.Y159S|ENST00000368872,p.Y159S|uc001exs.3,p.Y159S|uc001exr.3,p.Y171S|ENST00000368875,p.Y171S|uc001exu.3,p.Y159S|ENST00000271657,p.Y171S|NM_001198773,p.Y159S|NM_001198774,p.Y159S	retained_intron, protein_coding	uc001exu.3	nonsynonymous SNV	exon2	c.A476C	p.Y159S	YLYNSKEPGVQAYIGNRLFCFRNED	YLYNSKEPGVQASIGNRLFCFRNED	10.0	6.0	unscreened	-	4180_1:151288482-151288482 T>G_YLYNSKEPGVQASIGNRLFCFRNED
1:149902685-149902685 T>A	1.0	4180	BREAST	-	-	-	-	MTMR11	uc001etm.2,p.Q416L|ENST00000439741,p.Q488L|NM_181873,p.Q416L|NM_001145862,p.Q488L|ENST00000369140,p.Q416L|uc001etl.4,p.Q488L	retained_intron, protein_coding, processed_transcript	uc001etm.2	nonsynonymous SNV	exon13	c.A1247T	p.Q416L	RNTPWERGKQSGQLNSYTQVYTPGY	RNTPWERGKQSGLLNSYTQVYTPGY	8.0	4.0	unscreened	-	4180_1:149902685-149902685 T>A_RNTPWERGKQSGLLNSYTQVYTPGY
4:56277949-56277949 C>T	1.0	4180	BREAST	-	-	-	-	TMEM165	uc003hax.3,p.R126C|NM_018475,p.R126C|ENST00000381334,p.R126C|ENST00000542052,p.R63C|uc011bzy.2,p.R63C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bzy.2	nonsynonymous SNV	exon3	c.C187T	p.R63C	FFIAAIMAMRYNRLTVLAGAMLALG	FFIAAIMAMRYNCLTVLAGAMLALG	10.0	5.0	-	-	4180_4:56277949-56277949 C>T_FFIAAIMAMRYNCLTVLAGAMLALG
22:43572326-43572326 T>G	1.0	4180	BREAST	-	-	-	-	TTLL12	NM_015140,p.K306T|ENST00000216129,p.K306T|uc003bdq.3,p.K306T	retained_intron, protein_coding, processed_transcript	uc003bdq.3	nonsynonymous SNV	exon6	c.A917C	p.K306T	INPVVHPHGHIFKVYTDVQQVASSL	INPVVHPHGHIFTVYTDVQQVASSL	10.0	8.0	CD8	-	4180_22:43572326-43572326 T>G_INPVVHPHGHIFTVYTDVQQVASSL
17:65900002-65900002 T>A	1.0	4180	BREAST	-	-	-	-	BPTF	uc010wqm.1,p.W944R|ENST00000321892,p.W1007R|NM_004459,p.W1007R|NM_182641,p.W881R|ENST00000306378,p.W881R|uc002jge.3,p.W1007R|ENST00000424123,p.W868R|ENST00000335221,p.W1007R|ENST00000544778,p.W944R|uc002jgf.3,p.W881R	retained_intron, protein_coding, processed_transcript	uc010wqm.1	nonsynonymous SNV	exon9	c.T2830A	p.W944R	KQEEEETMQQATWVKYTFPVKHQVW	KQEEEETMQQATRVKYTFPVKHQVW	9.0	3.0	unscreened	-	4180_17:65900002-65900002 T>A_KQEEEETMQQATRVKYTFPVKHQVW
11:118498621-118498621 T>C	1.0	4180	BREAST	-	-	-	-	PHLDB1	ENST00000528594,p.I361T|NM_001144758,p.I361T|uc001ptv.2,p.I161T|uc001ptr.2,p.I361T|NM_001144759,p.I361T|ENST00000356063,p.I361T|ENST00000530994,p.I361T|NM_015157,p.I361T|ENST00000361417,p.I361T|uc001pts.3,p.I361T|uc001ptt.3,p.I361T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ptv.2	nonsynonymous SNV	exon1	c.T482C	p.I161T	SPRLGGQLPVVAISLSEYPASGALS	SPRLGGQLPVVATSLSEYPASGALS	8.0	10.0	-	-	4180_11:118498621-118498621 T>C_SPRLGGQLPVVATSLSEYPASGALS
3:9486785-9486785 A>-	1.0	4180	BREAST	-	-	-	-	SETD5	ENST00000402198,p.Q414fs|uc003bru.3,p.Q316fs|uc003brx.3,p.Q83fs|uc003brt.3,p.Q414fs|uc003brs.1,p.Q395fs|ENST00000402466,p.Q316fs|NM_001292043,p.Q316fs|uc003brv.3,p.Q303fs|ENST00000407969,p.Q433fs|ENST00000302463,p.Q316fs|uc003brw.1,p.Q83fs|NM_001080517,p.Q414fs|ENST00000406341,p.Q414fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003brx.3	frameshift deletion	exon2	c.248delA	p.Q83fs	CACHKGNRNCPIQKRNPNATELPLL	CACHKGNRNCPIQKGILMLQNCHSYHLLQAYPPLEQRLDVEKHDGKS	9.0	8.0	unscreened	-	4180_3:9486785-9486785 A>-_CACHKGNRNCPIQKGILMLQNCHSYHLLQAYPPLEQRLDVEKHDGKS
17:25958323-25958323 T>C	1.0	4180	BREAST	-	-	-	-	LGALS9	ENST00000313648,p.L11P|NM_002308,p.L11P|ENST00000310394,p.L11P|uc002gzp.3,p.L11P|ENST00000467111,p.L11P|NM_009587,p.L11P|ENST00000580779,p.L11P|ENST00000395473,p.L11P|uc002gzq.3,p.L11P|ENST00000302228,p.L11P|ENST00000577392,p.L11P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gzq.3	nonsynonymous SNV	exon1	c.T32C	p.L11P	MAFSGSQAPYLSPAVPFSGTIQG	MAFSGSQAPYPSPAVPFSGTIQG	10.0	3.0	unscreened	-	4180_17:25958323-25958323 T>C_MAFSGSQAPYPSPAVPFSGTIQG
19:10671057-10671057 A>G	1.0	4180	BREAST	-	-	-	-	KRI1	uc002mox.1,p.I246T|ENST00000312962,p.I250T|uc002moy.1,p.I250T|NM_023008,p.I250T|ENST00000361821,p.I246T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002moy.1	nonsynonymous SNV	exon9	c.T749C	p.I250T	ELDEGERFLRDYILNKRYEEEEEEE	ELDEGERFLRDYTLNKRYEEEEEEE	9.0	8.0	unscreened	-	4180_19:10671057-10671057 A>G_ELDEGERFLRDYTLNKRYEEEEEEE
8:95839595-95839595 C>T	1.0	4180	BREAST	-	-	-	-	INTS8	ENST00000523731,p.P137L|ENST00000447247,p.P137L|ENST00000519053,p.P28L|NM_017864,p.P137L|ENST00000524333,p.P137L|uc003yha.2,p.P137L|ENST00000343161,p.P137L|ENST00000523206,p.P137L|ENST00000522171,p.P96L|uc003yhb.4,p.P137L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yhb.4	nonsynonymous SNV	exon3	c.C410T	p.P137L	TKHVDMDLATLPPTTAMAVLLYNRW	TKHVDMDLATLPLTTAMAVLLYNRW	10.0	7.0	-	-	4180_8:95839595-95839595 C>T_TKHVDMDLATLPLTTAMAVLLYNRW
8:104413870-104413870 ->AT	1.0	4180	BREAST	-	-	-	-	SLC25A32	uc003yll.4,p.S229fs|ENST00000543107,p.S97fs|uc031tca.1,p.S97fs|ENST00000297578,p.S229fs|uc011lhr.3,p.S97fs|NM_030780,p.S229fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc031tca.1	frameshift insertion	exon7	c.289_290insAT	p.S97fs	LPEAQLSTVEYISVAALSKIFAVAA	LPEAQLSTVEYIYLLQHYPKYLLSQQHTHIKS	8.0	5.0	unscreened	-	4180_8:104413870-104413870 ->AT_LPEAQLSTVEYIYLLQHYPKYLLSQQHTHIKS
6:31868821-31868821 A>G	1.0	4180	BREAST	-	-	-	-	ZBTB12	uc021yva.1,p.C88R|ENST00000375527,p.C88R|uc003nyd.1,p.C88R|NM_181842,p.C88R	protein_coding	uc021yva.1	nonsynonymous SNV	exon1	c.T262C	p.C88R	HSARIVADLLLSCYTGALEFAVRDI	HSARIVADLLLSRYTGALEFAVRDI	7.0	10.0	unscreened	-	4180_6:31868821-31868821 A>G_HSARIVADLLLSRYTGALEFAVRDI
10:5769048-5769048 T>C	1.0	4180	BREAST	-	-	-	-	FAM208B	ENST00000328090,p.L150P|NM_017782,p.L150P|uc001iij.3,p.L150P	retained_intron, protein_coding, processed_transcript	uc001iij.3	nonsynonymous SNV	exon10	c.T449C	p.L150P	LSEPDFGGKQMGLHGLHLFRSPLST	LSEPDFGGKQMGPHGLHLFRSPLST	9.0	8.0	unscreened	-	4180_10:5769048-5769048 T>C_LSEPDFGGKQMGPHGLHLFRSPLST
11:65108939-65108939 G>A	1.0	4180	BREAST	-	-	ID=COSM930380;OCCURENCE=1(endometrium)	-	DPF2	ENST00000415073,p.R124H|ENST00000252268,p.R124H|ENST00000528416,p.R124H|uc001odm.3,p.R124H|uc010roe.2,p.R124H|NM_006268,p.R124H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010roe.2	nonsynonymous SNV	exon4	c.G371A	p.R124H	ISQDGSSLEALLRTDPLEKRGAPDP	ISQDGSSLEALLHTDPLEKRGAPDP	9.0	5.0	unscreened	-	4180_11:65108939-65108939 G>A_ISQDGSSLEALLHTDPLEKRGAPDP
6:114292040-114292040 T>-	1.0	4180	BREAST	-	-	-	-	HDAC2	ENST00000521163,p.K11fs	retained_intron, protein_coding	ENST00000521163	frameshift deletion	exon1	c.33delA	p.K11fs	MAYSQGGGKKKVCYYYDVCVFSI	MAYSQGGGKKKSATTTTFVSFLF	10.0	10.0	unscreened	-	4180_6:114292040-114292040 T>-_MAYSQGGGKKKSATTTTFVSFLF
9:37763711-37763711 A>G	1.0	4180	BREAST	-	-	-	-	TRMT10B	NM_001286954,p.M69V	retained_intron, protein_coding, nonsense_mediated_decay	NM_001286954	nonsynonymous SNV	exon4	c.A205G	p.M69V	QTFGSQTLRTKTMYRFEYDPLHVKE	QTFGSQTLRTKTVYRFEYDPLHVKE	7.0	8.0	unscreened	-	4180_9:37763711-37763711 A>G_QTFGSQTLRTKTVYRFEYDPLHVKE
19:10742361-10742361 G>C	1.0	4180	BREAST	-	-	-	-	SLC44A2	uc002mpf.3,p.E188Q|NM_020428,p.E188Q|ENST00000335757,p.E188Q|ENST00000586078,p.E188Q|ENST00000590382,p.E133Q|ENST00000407327,p.E186Q|NM_001145056,p.E186Q|uc002mpe.4,p.E186Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mpf.3	nonsynonymous SNV	exon8	c.G562C	p.E188Q	IHAYKGVLMVGNETTYEDGHGSRKN	IHAYKGVLMVGNQTTYEDGHGSRKN	10.0	8.0	-	-	4180_19:10742361-10742361 G>C_IHAYKGVLMVGNQTTYEDGHGSRKN
1:227152869-227152869 G>A	1.0	4180	BREAST	-	-	-	-	ADCK3	ENST00000366776,p.A41T	protein_coding, processed_transcript	ENST00000366776	nonsynonymous SNV	exon3	c.G121A	p.A41T	HLGIGGELIMGPAPAYVASGPFREA	HLGIGGELIMGPTPAYVASGPFREA	9.0	7.0	unscreened	-	4180_1:227152869-227152869 G>A_HLGIGGELIMGPTPAYVASGPFREA
17:65900933-65900933 A>T	1.0	4180	BREAST	-	-	-	-	BPTF	ENST00000321892,p.N1056I|uc002jgf.3,p.N930I|NM_182641,p.N930I|ENST00000335221,p.N1056I|ENST00000306378,p.N930I|ENST00000544778,p.N993I|NM_004459,p.N1056I|uc002jge.3,p.N1056I|ENST00000424123,p.N917I	retained_intron, protein_coding, processed_transcript	uc002jgf.3	nonsynonymous SNV	exon9	c.A2789T	p.N930I	RFVPKLPGNTNVNYRKSLEGTKNNM	RFVPKLPGNTNVIYRKSLEGTKNNM	9.0	1.0	unscreened	-	4180_17:65900933-65900933 A>T_RFVPKLPGNTNVIYRKSLEGTKNNM
2:37365691-37365691 G>A	1.0	4180	BREAST	-	-	-	-	EIF2AK2	ENST00000405334,p.T185M|NM_002759,p.T185M|uc010ynh.2,p.T185M|NM_001135652,p.T185M|uc010yng.2,p.T185M|NM_001135651,p.T185M|uc010fab.2,p.T185M|ENST00000233057,p.T185M|ENST00000395127,p.T185M|uc010fac.3,p.T185M|uc010fad.2,p.T185M	retained_intron, protein_coding	uc010ynh.2	nonsynonymous SNV	exon7	c.C554T	p.T185M	KSDYLSSGSFATTCESQSNSLVTST	KSDYLSSGSFATMCESQSNSLVTST	9.0	7.0	unscreened	-	4180_2:37365691-37365691 G>A_KSDYLSSGSFATMCESQSNSLVTST
12:6711546-6711546 T>-	1.0	4180	BREAST	-	-	ID=COSM1363779,COSM1363780,COSM1363778;OCCURENCE=1(large_intestine)	1	CHD4	ENST00000544484,p.K70fs|uc001qpo.3,p.K73fs|uc001qpp.3,p.K70fs|ENST00000545942,p.K73fs|ENST00000309577,p.K73fs|NM_001273,p.K73fs|ENST00000357008,p.K73fs	retained_intron, protein_coding, processed_transcript	uc001qpp.3	frameshift deletion	exon3	c.209delA	p.K70fs	RDPKIPKSKRQKKERMLLCRQLGDS	RDPKIPKSKRQKRSVCSYAGSWGTALGRGQSLWRRRKRWLCAQTVRAATILLARRRRRSLDLRKRRRANPSGRRRRRRRMMMMIQRSLNHLLSSWKTGAWKTLTTCSQRRIIEPSPTTRPSASLSDPSLLPKIPRLLSPR	10.0	4.0	unscreened	-	4180_12:6711546-6711546 T>-_RDPKIPKSKRQKRSVCSYAGSWGTALGRGQSLWRRRKRWLCAQTVRAATILLARRRRRSLDLRKRRRANPSGRRRRRRRMMMMIQRSLNHLLSSWKTGAWKTLTTCSQRRIIEPSPTTRPSASLSDPSLLPKIPRLLSPR
19:16263947-16263947 G>A	1.0	4180	BREAST	-	-	-	-	HSH2D	ENST00000397372,p.A15T	protein_coding, nonsense_mediated_decay	ENST00000397372	nonsynonymous SNV	exon4	c.G43A	p.A15T	YSEGLGHPRVSQALVTFHQQKPIEP	YSEGLGHPRVSQTLVTFHQQKPIEP	7.0	8.0	unscreened	-	4180_19:16263947-16263947 G>A_YSEGLGHPRVSQTLVTFHQQKPIEP
10:104159346-104159346 A>G	1.0	4180	BREAST	-	-	-	1	NFKB2	uc001kvb.4,p.N447S|uc009xxc.4,p.N447S|NM_001288724,p.N447S|uc001kvd.4,p.N447S|ENST00000369966,p.N447S|NM_001261403,p.N447S|NM_002502,p.N447S|ENST00000189444,p.N447S|NM_001077494,p.N447S|ENST00000428099,p.N447S|uc001kva.4,p.N447S	retained_intron, protein_coding, processed_transcript	uc009xxc.4	nonsynonymous SNV	exon13	c.A1340G	p.N447S	QAPEMLQRAREYNARLFGLAQRSAR	QAPEMLQRAREYSARLFGLAQRSAR	9.0	3.0	unscreened	-	4180_10:104159346-104159346 A>G_QAPEMLQRAREYSARLFGLAQRSAR
9:95888833-95888833 C>T	1.0	4180	BREAST	-	-	-	-	NINJ1	uc004atg.4,p.A55T|NM_004148,p.A55T|ENST00000375446,p.A55T	protein_coding, processed_transcript	uc004atg.4	nonsynonymous SNV	exon2	c.G163A	p.A55T	SKKSAAESMLDIALLMANASQLKAV	SKKSAAESMLDITLLMANASQLKAV	10.0	8.0	unscreened	-	4180_9:95888833-95888833 C>T_SKKSAAESMLDITLLMANASQLKAV
17:78081609-78081609 A>G	1.0	4180	BREAST	-	-	-	-	GAA	ENST00000390015,p.N290S|NM_001079803,p.N290S|uc002jxq.3,p.N290S|uc002jxp.3,p.N290S|NM_001079804,p.N290S|uc002jxo.3,p.N290S|NM_000152,p.N290S|ENST00000302262,p.N290S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jxq.3	nonsynonymous SNV	exon5	c.A869G	p.N290S	LWNRDLAPTPGANLYGSHPFYLALE	LWNRDLAPTPGASLYGSHPFYLALE	10.0	7.0	CD8	-	4180_17:78081609-78081609 A>G_LWNRDLAPTPGASLYGSHPFYLALE
9:123955659-123955659 A>G	1.0	4180	BREAST	-	-	-	-	RAB14	ENST00000451303,p.I11T|uc004blc.3,p.I11T|ENST00000373840,p.I11T|NM_016322,p.I11T	protein_coding	uc004blc.3	nonsynonymous SNV	exon2	c.T32C	p.I11T	MATAPYNYSYIFKYIIIGDMGVG	MATAPYNYSYTFKYIIIGDMGVG	8.0	9.0	unscreened	-	4180_9:123955659-123955659 A>G_MATAPYNYSYTFKYIIIGDMGVG
1:10479548-10479550 CTT>-	1.0	4180	BREAST	-	-	-	-	PGD	ENST00000541529,p.406_407del|ENST00000538557,p.415_416del|uc010oak.2,p.406_407del|NM_002631,p.428_429del|uc001arc.3,p.428_429del|ENST00000270776,p.428_429del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010oak.2	nonframeshift deletion	exon11	c.1218_1220del	p.406_407del	AGIPMPCFTTALSFYDGYRHEMLPA	AGIPMPCFTTALSYDGYRHEMLPAS	10.0	7.0	-	-	4180_1:10479548-10479550 CTT>-_AGIPMPCFTTALSYDGYRHEMLPAS
12:6711546-6711546 T>-	1.0	4180	BREAST	-	-	ID=COSM1363779,COSM1363780,COSM1363778;OCCURENCE=1(large_intestine)	1	CHD4	ENST00000544040,p.K73fs|NM_001297553,p.K73fs|uc001qpn.3,p.K73fs	retained_intron, protein_coding, processed_transcript	uc001qpn.3	frameshift deletion	exon2	c.218delA	p.K73fs	RDPKIPKSKRQKKELGDSSGEGPEF	RDPKIPKSKRQKRSWGTALGRGQSLWRRRKRWLCAQTVRAATILLARRRRRSLDLRKRRRANPSGRRRRRRRMMMMIQRSLNHLLSSWKTGAWKTLTTCSQRRIIEPSPTTRPSASLSDPSLLPKIPRLLSPR	10.0	4.0	unscreened	-	4180_12:6711546-6711546 T>-_RDPKIPKSKRQKRSWGTALGRGQSLWRRRKRWLCAQTVRAATILLARRRRRSLDLRKRRRANPSGRRRRRRRMMMMIQRSLNHLLSSWKTGAWKTLTTCSQRRIIEPSPTTRPSASLSDPSLLPKIPRLLSPR
19:50176997-50176997 T>C	1.0	4180	BREAST	-	-	-	2	BCL2L12	uc031rlz.1,p.I258T|NM_001282521,p.I182T|uc031rlv.1,p.I182T|NM_001282519,p.I258T|uc031rma.1,p.I211T|NM_001282520,p.I211T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rma.1	nonsynonymous SNV	exon5	c.T632C	p.I211T	HPGCFTRGLELAIGLSSFSEAATR	HPGCFTRGLELATGLSSFSEAATR	9.0	6.0	-	-	4180_19:50176997-50176997 T>C_HPGCFTRGLELATGLSSFSEAATR
1:113240994-113240994 C>T	1.0	4180	BREAST	-	-	-	-	MOV10	uc001ecn.3,p.A801V|uc001ecm.3,p.A741V|ENST00000413052,p.A801V|NM_001130079,p.A801V|NM_020963,p.A801V|NM_001286072,p.A745V|ENST00000369645,p.A801V|uc001eck.3,p.A801V|ENST00000369644,p.A745V|ENST00000357443,p.A801V	protein_coding, processed_transcript	uc001ecn.3	nonsynonymous SNV	exon16	c.C2402T	p.A801V	GNSPSFFNPEEAATVTSYLKLLLAP	GNSPSFFNPEEAVTVTSYLKLLLAP	10.0	4.0	unscreened	-	4180_1:113240994-113240994 C>T_GNSPSFFNPEEAVTVTSYLKLLLAP
2:47602425-47602425 A>-	1.0	4180	BREAST	-	-	-	-	EPCAM	ENST00000456133,p.K188fs|NM_002354,p.K160fs|ENST00000263735,p.K160fs|ENST00000405271,p.K188fs|uc002rvx.3,p.K160fs	retained_intron, protein_coding, nonsense_mediated_decay	uc002rvx.3	frameshift deletion	exon4	c.478delA	p.K160fs	LKHKAREKPYDSKSLRTALQKEITT	LKHKAREKPYDSKVCGLHFRRRSQRVINWIQNLSRVFCMRIMLSLLIWFKILLKKLRMMWT	10.0	9.0	unscreened	-	4180_2:47602425-47602425 A>-_LKHKAREKPYDSKVCGLHFRRRSQRVINWIQNLSRVFCMRIMLSLLIWFKILLKKLRMMWT
15:41813106-41813106 G>A	1.0	4180	BREAST	-	-	ID=COSM1562944;OCCURENCE=1(large_intestine)	-	RPAP1	NM_015540,p.T1093M|ENST00000304330,p.T1093M|uc001zod.3,p.T1093M|ENST00000562303,p.T1093M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zod.3	nonsynonymous SNV	exon22	c.C3278T	p.T1093M	LQRVPTLLLPMPTEPLLPTDWPFLP	LQRVPTLLLPMPMEPLLPTDWPFLP	7.0	8.0	unscreened	-	4180_15:41813106-41813106 G>A_LQRVPTLLLPMPMEPLLPTDWPFLP
2:219529514-219529514 C>-	1.0	4180	BREAST	-	-	ID=COSM1405501;OCCURENCE=2(large_intestine)	-	RNF25	NM_022453,p.G250fs|ENST00000295704,p.G250fs|uc002vit.3,p.G250fs|uc010fvw.3,p.G138fs	retained_intron, protein_coding, nonsense_mediated_decay	uc010fvw.3	frameshift deletion	exon7	c.413delG	p.G138fs	RKRLYQRQQERGGIIDLEAERNRYF	RKRLYQRQQERGESLTLRLSETDTSSAFSSLLPLRNLSQL	10.0	5.0	-	-	4180_2:219529514-219529514 C>-_RKRLYQRQQERGESLTLRLSETDTSSAFSSLLPLRNLSQL
9:33113583-33113583 A>G	1.0	4180	BREAST	-	-	-	-	B4GALT1	ENST00000379731,p.F356L|NM_001497,p.F356L|ENST00000541851,p.F103L|uc003zsg.2,p.F356L	protein_coding	uc003zsg.2	nonsynonymous SNV	exon6	c.T1066C	p.F356L	SRDKKNEPNPQRFDRIAHTKETMLS	SRDKKNEPNPQRLDRIAHTKETMLS	9.0	10.0	unscreened	-	4180_9:33113583-33113583 A>G_SRDKKNEPNPQRLDRIAHTKETMLS
8:12973116-12973116 G>-	1.0	4180	BREAST	-	-	-	-	DLC1	ENST00000512044,p.Q64fs|NM_006094,p.Q30fs|ENST00000358919,p.Q30fs|uc003wwl.1,p.Q64fs|uc003wwk.1,p.Q30fs|ENST00000276297,p.Q467fs|uc003wwm.2,p.Q467fs|NM_182643,p.Q467fs	retained_intron, protein_coding, processed_transcript	uc003wwm.2	frameshift deletion	exon6	c.1399delC	p.Q467fs	EACDWLRATGFPQYAQLYEDFLFPI	EACDWLRATGFPSMHSFMKISCSPSIFPWSRESMIFWTEMPLRLYAGV	6.0	1.0	unscreened	-	4180_8:12973116-12973116 G>-_EACDWLRATGFPSMHSFMKISCSPSIFPWSRESMIFWTEMPLRLYAGV
1:228284895-228284895 C>T	1.0	4180	BREAST	-	-	-	-	ARF1	uc001hrv.3,p.A27V|NM_001024228,p.A27V|uc001hru.3,p.A27V|NM_001024227,p.A27V|NM_001658,p.A27V|NM_001024226,p.A27V|ENST00000272102,p.A27V|ENST00000541182,p.A27V|uc001hrr.3,p.A27V|uc001hrs.3,p.A27V|ENST00000540651,p.A27V	protein_coding, processed_transcript	uc001hrv.3	nonsynonymous SNV	exon2	c.C80T	p.A27V	KKEMRILMVGLDAAGKTTILYKLKL	KKEMRILMVGLDVAGKTTILYKLKL	10.0	10.0	-	-	4180_1:228284895-228284895 C>T_KKEMRILMVGLDVAGKTTILYKLKL
6:41904380-41904380 C>-	1.0	4180	BREAST	-	-	-	1	CCND3	NM_001136126,p.A14fs|uc003oro.3,p.A138fs|ENST00000372988,p.A129fs|ENST00000511642,p.A129fs|NM_001136017,p.A129fs|uc003orn.3,p.A210fs|NM_001136125,p.A138fs|ENST00000414200,p.A138fs|ENST00000415497,p.A14fs|uc003orm.3,p.A160fs|NM_001760,p.A210fs|ENST00000372987,p.A160fs|uc003orp.3,p.A129fs|ENST00000372991,p.A210fs|uc011duk.2,p.A14fs|NM_001287427,p.A160fs|NM_001287434,p.A14fs	retained_intron, protein_coding, processed_transcript	uc011duk.2	frameshift deletion	exon3	c.40delG	p.A14fs	YPPSMIATGSIGAAVQGLGACSMSG	YPPSMIATGSIGLQCKAWVPAPCPGMSSQSCWQGSLALKWTACGPVRSRSKLHSGRASGKPLRPAPAQRPKPPGAPAAKGPARPALLQMSQPYTC	9.0	9.0	unscreened	-	4180_6:41904380-41904380 C>-_YPPSMIATGSIGLQCKAWVPAPCPGMSSQSCWQGSLALKWTACGPVRSRSKLHSGRASGKPLRPAPAQRPKPPGAPAAKGPARPALLQMSQPYTC
1:227152980-227152980 T>A	1.0	4180	BREAST	-	-	-	-	ADCK3	ENST00000366777,p.F153I|ENST00000366776,p.F78I|uc001hqm.1,p.F153I|uc001hqn.1,p.F153I|ENST00000366779,p.F153I|uc009xeq.1,p.F101I|NM_020247,p.F153I|uc010pvp.1,p.F116I|ENST00000366778,p.F101I	protein_coding, processed_transcript	uc010pvp.1	nonsynonymous SNV	exon4	c.T346A	p.F116I	ANGRLFANPRDSFSAMGFQRRFFHQ	ANGRLFANPRDSISAMGFQRRFFHQ	9.0	7.0	unscreened	-	4180_1:227152980-227152980 T>A_ANGRLFANPRDSISAMGFQRRFFHQ
3:49137194-49137194 C>A	1.0	4180	BREAST	-	-	-	-	QARS	uc011bcd.2,p.R318L|uc003cvy.4,p.R318L|uc011bce.3,p.R452L|ENST00000414533,p.R452L|NM_001272073,p.R452L|uc003cvx.4,p.R463L|ENST00000306125,p.R463L|NM_005051,p.R463L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bce.3	nonsynonymous SNV	exon15	c.G1355T	p.R452L	ITHSLCTKEFQARRSSYFWLCNALD	ITHSLCTKEFQALRSSYFWLCNALD	10.0	5.0	unscreened	-	4180_3:49137194-49137194 C>A_ITHSLCTKEFQALRSSYFWLCNALD
14:68260893-68260893 G>A	1.0	4180	BREAST	-	-	-	-	ZFYVE26	ENST00000555452,p.T799M|uc001xkc.4,p.T799M|uc001xka.2,p.T799M|ENST00000347230,p.T799M|NM_015346,p.T799M	retained_intron, protein_coding, nonsense_mediated_decay	uc001xkc.4	nonsynonymous SNV	exon13	c.C2396T	p.T799M	SLESTSSELSTSTSEGSLSAMSGRN	SLESTSSELSTSMSEGSLSAMSGRN	7.0	9.0	unscreened	-	4180_14:68260893-68260893 G>A_SLESTSSELSTSMSEGSLSAMSGRN
2:54164670-54164670 G>T	1.0	4180	BREAST	-	-	-	-	PSME4	uc021vho.1,p.P170T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vho.1	nonsynonymous SNV	exon4	c.C508A	p.P170T	EHLGLNWFPKYFPADATAEMLEEWR	EHLGLNWFPKYFTADATAEMLEEWR	9.0	9.0	unscreened	-	4180_2:54164670-54164670 G>T_EHLGLNWFPKYFTADATAEMLEEWR
2:54164670-54164670 G>T	1.0	4180	BREAST	-	-	-	-	PSME4	ENST00000389993,p.P185T|uc002rxp.2,p.P185T|uc010yop.1,p.P71T|NM_014614,p.P185T|ENST00000404125,p.P185T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yop.1	nonsynonymous SNV	exon4	c.C211A	p.P71T	LKTLVKSCRPYFPADATAEMLEEWR	LKTLVKSCRPYFTADATAEMLEEWR	9.0	9.0	unscreened	-	4180_2:54164670-54164670 G>T_LKTLVKSCRPYFTADATAEMLEEWR
1:29069146-29069146 T>C	1.0	4180	BREAST	-	-	-	-	YTHDF2	NM_001173128,p.F122L|uc021okf.1,p.F122L|ENST00000474884,p.F122L|ENST00000542507,p.F122L|ENST00000541996,p.F72L|ENST00000496288,p.F119L|ENST00000373812,p.F122L|NM_001172828,p.F72L|uc001brc.3,p.F122L|NM_016258,p.F122L|uc010ofx.2,p.F72L|uc001bre.3,p.F72L	protein_coding, processed_transcript	uc021okf.1	nonsynonymous SNV	exon5	c.T364C	p.F122L	ALGSTPFLGQHGFNFFPSGIDFSAW	ALGSTPFLGQHGLNFFPSGIDFSAW	9.0	8.0	unscreened	-	4180_1:29069146-29069146 T>C_ALGSTPFLGQHGLNFFPSGIDFSAW
8:144991903-144991903 A>G	1.0	4180	BREAST	-	-	-	-	PLEC	ENST00000345136,p.M4029T|NM_201378,p.M4015T|NM_201382,p.M4029T|ENST00000356346,p.M4015T|uc003zaj.2,p.M4056T|NM_201380,p.M4166T|NM_201383,p.M4033T|uc003zag.1,p.M4007T|ENST00000436759,p.M4056T|uc003zad.2,p.M4029T|ENST00000354958,p.M4007T|NM_201381,p.M3997T|uc003zab.1,p.M4029T|uc003zaf.1,p.M4166T|NM_201384,p.M4029T|uc003zac.1,p.M4033T|ENST00000322810,p.M4166T|NM_000445,p.M4056T|NM_201379,p.M4007T|ENST00000354589,p.M4029T|uc003zae.1,p.M3997T|ENST00000527096,p.M4052T|ENST00000398774,p.M3997T|uc003zah.2,p.M4015T|ENST00000357649,p.M4033T	retained_intron, protein_coding	uc003zaj.2	nonsynonymous SNV	exon33	c.T12167C	p.M4056T	PYSGKLISLFQAMKKGLILKDHGIR	PYSGKLISLFQATKKGLILKDHGIR	9.0	7.0	unscreened	-	4180_8:144991903-144991903 A>G_PYSGKLISLFQATKKGLILKDHGIR
1:185269632-185269632 A>T	1.0	4180	BREAST	-	-	-	-	IVNS1ABP	uc001grm.3,p.D53E|uc001grj.3,p.D53E|ENST00000392007,p.D175E|NM_006469,p.D393E|ENST00000367498,p.D393E|uc009wyj.3,p.D175E|uc001grl.3,p.D393E|uc001gri.3,p.D53E	retained_intron, protein_coding, processed_transcript	uc009wyj.3	nonsynonymous SNV	exon11	c.T525A	p.D175E	CLRTVECYNPHTDHWSFLAPMRTPR	CLRTVECYNPHTEHWSFLAPMRTPR	9.0	5.0	unscreened	-	4180_1:185269632-185269632 A>T_CLRTVECYNPHTEHWSFLAPMRTPR
9:117038016-117038016 C>-	1.0	4180	BREAST	-	-	-	-	COL27A1	NM_032888,p.P1229fs|uc011lxl.2,p.P1229fs|ENST00000356083,p.P1229fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lxl.2	frameshift deletion	exon37	c.3685delC	p.P1229fs	EKGQEGLMGEDGPPGPPGVTGVRGP	EKGQEGLMGEDGPPAPLASLVSGVLKENQGSKARRAALEPRVPRAIKDSWVRWASLETLDPLALQALKGPGAAWDQRVLRDAWGPKENRDWLVMMDTKALWDPLDLLDQKAKRGSRARTARLRGPLGHLEIGALWVIEETAGNRETLGTLDRRVCKASVESQASRANPGIRDPGGGRDPKDRKAQRDQRESKARQGPQAGGGSRACRGCQGPGAWWGDRASRASLDQMGFLAGTGKQDSRGSRETMGTLAPWALLGREEIQVWPAYLEHRDPQDSRVRVGYPDSWVPLASEEQRAERGSLETRGSLGPKASRATLARWASQEWQVSSDPRARLETLASKASRALGGHLA	8.0	8.0	unscreened	-	4180_9:117038016-117038016 C>-_EKGQEGLMGEDGPPAPLASLVSGVLKENQGSKARRAALEPRVPRAIKDSWVRWASLETLDPLALQALKGPGAAWDQRVLRDAWGPKENRDWLVMMDTKALWDPLDLLDQKAKRGSRARTARLRGPLGHLEIGALWVIEETAGNRETLGTLDRRVCKASVESQASRANPGIRDPGGGRDPKDRKAQRDQRESKARQGPQAGGGSRACRGCQGPGAWWGDRASRASLDQMGFLAGTGKQDSRGSRETMGTLAPWALLGREEIQVWPAYLEHRDPQDSRVRVGYPDSWVPLASEEQRAERGSLETRGSLGPKASRATLARWASQEWQVSSDPRARLETLASKASRALGGHLA
1:44450603-44450603 G>A	1.0	4180	BREAST	-	-	-	-	B4GALT2	NM_001005417,p.D206N|ENST00000372324,p.D206N|NM_003780,p.D206N|NM_030587,p.D235N|uc001clh.3,p.D140N|ENST00000309519,p.D235N|ENST00000434555,p.D140N|uc001clg.3,p.D206N|uc010okl.2,p.D235N|uc001cli.3,p.D206N|ENST00000356836,p.D206N	protein_coding, processed_transcript	uc010okl.2	nonsynonymous SNV	exon4	c.G703A	p.D235N	LLNVGFLEALKEDAAYDCFIFSDVD	LLNVGFLEALKENAAYDCFIFSDVD	10.0	10.0	-	-	4180_1:44450603-44450603 G>A_LLNVGFLEALKENAAYDCFIFSDVD
19:58773404-58773404 G>C	1.0	4180	BREAST	-	-	-	-	ZNF544	ENST00000600220,p.E450Q|ENST00000599953,p.E336Q|NM_014480,p.E478Q|uc010euo.3,p.E478Q|ENST00000596652,p.E478Q|uc002qru.4,p.E336Q|ENST00000600044,p.E450Q|ENST00000415203,p.E450Q|uc010yhx.2,p.E450Q|uc002qrt.4,p.E336Q|uc010yhy.2,p.E450Q|ENST00000269829,p.E478Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yhy.2	nonsynonymous SNV	exon6	c.G1348C	p.E450Q	CTHCGKSFSQSYELVTHKRTHTGEK	CTHCGKSFSQSYQLVTHKRTHTGEK	9.0	1.0	unscreened	-	4180_19:58773404-58773404 G>C_CTHCGKSFSQSYQLVTHKRTHTGEK
16:88876937-88876937 C>T	1.0	4180	BREAST	-	-	-	-	APRT	ENST00000567713,p.G72D|ENST00000378364,p.G72D|NM_001030018,p.G72D|uc002flv.3,p.G72D|uc002flw.3,p.G72D|ENST00000426324,p.G72D|NM_000485,p.G72D	retained_intron, protein_coding, nonsense_mediated_decay	uc002flw.3	nonsynonymous SNV	exon3	c.G215A	p.G72D	YIAGLDSRGFLFGPSLAQELGLGCV	YIAGLDSRGFLFDPSLAQELGLGCV	10.0	10.0	-	-	4180_16:88876937-88876937 C>T_YIAGLDSRGFLFDPSLAQELGLGCV
10:135122460-135122460 C>T	1.0	4180	BREAST	-	-	-	-	ZNF511	ENST00000361518,p.P5S|ENST00000359035,p.P5S|uc001lmj.1,p.P5S|NM_145806,p.P5S|uc001lml.1,p.P5S	protein_coding, processed_transcript	uc001lml.1	nonsynonymous SNV	exon1	c.C13T	p.P5S	MQLPPALCARLAAGPGA	MQLPSALCARLAAGPGA	10.0	10.0	unscreened	-	4180_10:135122460-135122460 C>T_MQLPSALCARLAAGPGA
1:231401101-231401101 C>T	1.0	4180	BREAST	-	-	-	-	GNPAT	uc009xfo.1,p.R102C|NM_014236,p.R211C|ENST00000436239,p.R150C|ENST00000366647,p.R211C|uc009xfp.3,p.R150C|uc001hup.4,p.R211C|ENST00000366646,p.R150C|ENST00000416000,p.R201C	protein_coding, processed_transcript	uc009xfp.3	nonsynonymous SNV	exon4	c.C448T	p.R150C	ELLRMSGAFFMRRTFGGNKLYWAVF	ELLRMSGAFFMRCTFGGNKLYWAVF	9.0	8.0	-	-	4180_1:231401101-231401101 C>T_ELLRMSGAFFMRCTFGGNKLYWAVF
11:65397914-65397914 C>T	1.0	4180	BREAST	-	-	-	-	PCNXL3	uc001oez.2,p.R324W|uc001oey.2,p.R1437W|ENST00000355703,p.R1437W|NM_032223,p.R1437W	retained_intron, protein_coding, processed_transcript	uc001oez.2	nonsynonymous SNV	exon7	c.C970T	p.R324W	EGCCCCEPGHLPRVLSFNAAFGQRW	EGCCCCEPGHLPWVLSFNAAFGQRW	7.0	6.0	unscreened	-	4180_11:65397914-65397914 C>T_EGCCCCEPGHLPWVLSFNAAFGQRW
19:50882308-50882308 G>A	1.0	4180	BREAST	-	-	-	-	NR1H2	ENST00000411902,p.R169H|ENST00000593926,p.R266H|ENST00000253727,p.R266H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000593926	nonsynonymous SNV	exon6	c.G797A	p.R266H	GADPQSRDARQQRFAHFTELAIISV	GADPQSRDARQQHFAHFTELAIISV	9.0	10.0	-	-	4180_19:50882308-50882308 G>A_GADPQSRDARQQHFAHFTELAIISV
1:154987818-154987818 G>A	1.0	4180	BREAST	-	-	-	-	ZBTB7B	uc010peq.3,p.A262T|NM_001252406,p.A262T|NM_001256455,p.A228T|uc001fgk.4,p.A228T|ENST00000535420,p.A228T|uc001fgj.4,p.A262T|ENST00000417934,p.A262T|ENST00000292176,p.A228T|uc031ppr.1,p.A228T|ENST00000368426,p.A228T|uc009wpa.3,p.A228T|uc001fgl.4,p.A228T	protein_coding, processed_transcript	uc031ppr.1	nonsynonymous SNV	exon2	c.G682A	p.A228T	ANHLVPEVPTVPAHPLTYEEEEVAG	ANHLVPEVPTVPTHPLTYEEEEVAG	10.0	1.0	unscreened	-	4180_1:154987818-154987818 G>A_ANHLVPEVPTVPTHPLTYEEEEVAG
22:50665174-50665174 T>A	1.0	4180	BREAST	-	-	-	-	TUBGCP6	ENST00000439308,p.E530V|uc010har.1,p.E530V|NM_020461,p.E530V|uc003bkb.1,p.E530V|ENST00000248846,p.E530V	retained_intron, protein_coding, processed_transcript	uc010har.1	nonsynonymous SNV	exon7	c.A1589T	p.E530V	YPVLLSLLKTSCEPYTRFIHDWVYS	YPVLLSLLKTSCVPYTRFIHDWVYS	6.0	8.0	unscreened	-	4180_22:50665174-50665174 T>A_YPVLLSLLKTSCVPYTRFIHDWVYS
1:236714219-236714219 G>A	1.0	4180	BREAST	-	-	-	-	HEATR1	uc009xgh.2,p.L1302F|uc001hyd.2,p.L2140F|NM_018072,p.L2140F|ENST00000366581,p.L2059F|ENST00000366582,p.L2140F	protein_coding, processed_transcript	uc009xgh.2	nonsynonymous SNV	exon27	c.C3904T	p.L1302F	TIQQLETVLGEPLQSYF	TIQQLETVLGEPFQSYF	9.0	7.0	unscreened	-	4180_1:236714219-236714219 G>A_TIQQLETVLGEPFQSYF
12:123519081-123519081 G>C	1.0	4180	BREAST	-	-	-	-	PITPNM2	uc001uej.1,p.I19M|ENST00000542210,p.I19M|ENST00000320201,p.I19M|ENST00000280562,p.I19M|NM_001300801,p.I19M|ENST00000546049,p.I19M|ENST00000392428,p.I19M|NM_020845,p.I19M|uc009zxu.1,p.I19M|uc001uek.1,p.I19M|ENST00000542749,p.I19M	retained_intron, protein_coding, processed_transcript	uc009zxu.1	nonsynonymous SNV	exon2	c.C57G	p.I19M	RIPLPMTVEEYRIAQLYMIQKKSRN	RIPLPMTVEEYRMAQLYMIQKKSRN	6.0	8.0	unscreened	-	4180_12:123519081-123519081 G>C_RIPLPMTVEEYRMAQLYMIQKKSRN
12:112518893-112518893 A>G	1.0	4180	BREAST	-	-	-	-	NAA25	ENST00000261745,p.F150L|uc009zvz.2,p.F122L|uc009zwa.2,p.F150L|uc001ttm.3,p.F150L|NM_024953,p.F150L	retained_intron, protein_coding, nonsense_mediated_decay	uc009zwa.2	nonsynonymous SNV	exon5	c.T448C	p.F150L	ALYKIVPKNPYYFWSVMSLIMQSIS	ALYKIVPKNPYYLWSVMSLIMQSIS	8.0	9.0	unscreened	-	4180_12:112518893-112518893 A>G_ALYKIVPKNPYYLWSVMSLIMQSIS
1:45407182-45407182 T>-	1.0	4180	BREAST	-	-	ID=COSM1343022;OCCURENCE=4(large_intestine)	-	EIF2B3	NM_020365,p.K150fs|uc001cmt.3,p.K150fs|ENST00000372183,p.K150fs|uc001cmw.4,p.K150fs|NM_001166588,p.K150fs|ENST00000360403,p.K150fs|uc001cmu.3,p.K150fs|NM_001261418,p.K150fs	protein_coding, processed_transcript	uc001cmw.4	frameshift deletion	exon4	c.450delA	p.K150fs	SIEPVPGQKGKKKAVEQRDFIGVDS	SIEPVPGQKGKKKQWSSVTSLEWTAQERGCSSWLMKQTWMKSWSLRDPSYRSILEYVSTRVLWMPTSTV	8.0	2.0	unscreened	-	4180_1:45407182-45407182 T>-_SIEPVPGQKGKKKQWSSVTSLEWTAQERGCSSWLMKQTWMKSWSLRDPSYRSILEYVSTRVLWMPTSTV
3:196674360-196674360 G>-	1.0	4180	BREAST	-	-	ID=COSM1422055;OCCURENCE=2(large_intestine)	-	PIGZ	ENST00000412723,p.R470fs|uc003fxh.3,p.R470fs|NM_025163,p.R470fs	retained_intron, protein_coding	uc003fxh.3	frameshift deletion	exon3	c.1408delC	p.R470fs	YTLLFTHTYMPPRHLLHLPGLGAPV	YTLLFTHTYMPPGTSYTSQAWGHQWRWWTWGGLRTGPCAKP	5.0	8.0	unscreened	-	4180_3:196674360-196674360 G>-_YTLLFTHTYMPPGTSYTSQAWGHQWRWWTWGGLRTGPCAKP
2:220353584-220353584 G>A	1.0	4180	BREAST	-	-	-	-	SPEG	uc010fwg.3,p.R2704Q|NM_005876,p.R2704Q|ENST00000312358,p.R2704Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fwg.3	nonsynonymous SNV	exon34	c.G8111A	p.R2704Q	DTALVLWKPGDSRAPCTYTLERRVD	DTALVLWKPGDSQAPCTYTLERRVD	8.0	7.0	unscreened	-	4180_2:220353584-220353584 G>A_DTALVLWKPGDSQAPCTYTLERRVD
20:2944942-2944942 C>T	1.0	4180	BREAST	-	-	-	-	PTPRA	ENST00000425918,p.L18F|uc010zqd.2,p.L18F	protein_coding	uc010zqd.2	nonsynonymous SNV	exon3	c.C52T	p.L18F	QITKISMDSWFILVLLGSGLICVSA	QITKISMDSWFIFVLLGSGLICVSA	9.0	8.0	-	-	4180_20:2944942-2944942 C>T_QITKISMDSWFIFVLLGSGLICVSA
6:161469829-161469829 A>-	1.0	4180	BREAST	-	-	ID=COSM1442037,COSM1442038;OCCURENCE=2(large_intestine)	-	MAP3K4	NM_001301072,p.P175fs|ENST00000366920,p.P175fs|uc003qto.3,p.P175fs|ENST00000348824,p.P175fs|ENST00000392142,p.P175fs|NM_005922,p.P175fs|uc010kkc.2,p.P154fs|NM_006724,p.P175fs|ENST00000544041,p.P175fs|ENST00000490904,p.P175fs|ENST00000366919,p.P175fs|uc003qtn.3,p.P175fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kkc.2	frameshift deletion	exon3	c.462delA	p.P154fs	CSFMLDSVGGSLPKKSIPDVDLNKP	CSFMLDSVGGSLPKNQFQMWISISLTSALAVAMLSFQYLCPCL	8.0	9.0	unscreened	-	4180_6:161469829-161469829 A>-_CSFMLDSVGGSLPKNQFQMWISISLTSALAVAMLSFQYLCPCL
9:131708463-131708463 C>G	1.0	4180	BREAST	-	-	-	-	DOLK	ENST00000372586,p.E374Q|NM_014908,p.E374Q|uc004bwr.3,p.E374Q	protein_coding	uc004bwr.3	nonsynonymous SNV	exon1	c.G1120C	p.E374Q	AATVCLAVFIFLEYVRYFRIKPLGH	AATVCLAVFIFLQYVRYFRIKPLGH	8.0	9.0	unscreened	-	4180_9:131708463-131708463 C>G_AATVCLAVFIFLQYVRYFRIKPLGH
2:97749725-97749725 G>-	1.0	4180	BREAST	-	-	ID=COSM1410120;OCCURENCE=5(large_intestine)	-	FAHD2B	ENST00000414820,p.P281fs|ENST00000272610,p.P281fs|uc002sxm.3,p.P281fs|NM_199336,p.P281fs|ENST00000440566,p.P281fs	retained_intron, protein_coding, processed_transcript	uc002sxm.3	frameshift deletion	exon7	c.842delC	p.P281fs	FYPGDVILTGTPPGVGVFRKPPVFL	FYPGDVILTGTPQVSVYSGNLLSFSRRGMKSSVRLKN	9.0	5.0	unscreened	-	4180_2:97749725-97749725 G>-_FYPGDVILTGTPQVSVYSGNLLSFSRRGMKSSVRLKN
9:26935132-26935132 T>C	1.0	4180	BREAST	-	-	-	-	PLAA	ENST00000397292,p.I74M|NM_001031689,p.I74M|uc003zqe.2,p.I74M|ENST00000520884,p.I74M|uc003zqd.3,p.I74M	retained_intron, protein_coding, processed_transcript	uc003zqe.2	nonsynonymous SNV	exon2	c.A222G	p.I74M	SGHSNFVSCVCIIPSSDIYPHGLIA	SGHSNFVSCVCIMPSSDIYPHGLIA	9.0	8.0	-	-	4180_9:26935132-26935132 T>C_SGHSNFVSCVCIMPSSDIYPHGLIA
2:74755929-74755931 AGC>-	1.0	4180	BREAST	-	-	-	-	AUP1	ENST00000377526,p.157_158del|NM_181575,p.157_158del|uc002smf.3,p.157_158del|ENST00000425118,p.157_158del|uc021vjm.1,p.66_67del|uc002smh.3,p.66_67del|uc010yrx.2,p.214_215del	retained_intron, protein_coding, nonsense_mediated_decay	uc021vjm.1	nonframeshift deletion	exon3	c.198_200del	p.66_67del	FCASTRLPPTPLLLFPEEEATNGRE	FCASTRLPPTPLLFPEEEATNGREG	10.0	5.0	unscreened	-	4180_2:74755929-74755931 AGC>-_FCASTRLPPTPLLFPEEEATNGREG
6:13325356-13325356 A>G	1.0	4180	BREAST	-	-	-	-	TBC1D7	NM_001143965,p.Y55H|ENST00000343141,p.Y55H|ENST00000416436,p.Y55H|NM_001143964,p.Y55H|uc010jpd.4,p.Y55H|ENST00000606541,p.Y55H|ENST00000379291,p.Y55H|ENST00000421203,p.Y55H|ENST00000422136,p.Y55H|uc003naj.3,p.Y55H|uc003nal.3,p.Y55H|ENST00000379300,p.Y55H|ENST00000356436,p.Y55H|NM_001258457,p.Y55H|uc003nam.3,p.Y55H|ENST00000606214,p.Y55H|uc003nan.3,p.Y55H|ENST00000428109,p.Y55H|NM_016495,p.Y55H	protein_coding	uc010jpd.4	nonsynonymous SNV	exon3	c.T163C	p.Y55H	CTFSQRFPLPSMYRALVWKVLLGIL	CTFSQRFPLPSMHRALVWKVLLGIL	8.0	4.0	unscreened	-	4180_6:13325356-13325356 A>G_CTFSQRFPLPSMHRALVWKVLLGIL
12:120534759-120534759 T>C	1.0	4180	BREAST	-	-	-	-	RAB35	uc009zww.2,p.I97M|ENST00000432953,p.I97M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zww.2	nonsynonymous SNV	exon7	c.A291G	p.I97M	LPAERTDSQSLYIVYIALPGRTPRP	LPAERTDSQSLYMVYIALPGRTPRP	10.0	7.0	-	-	4180_12:120534759-120534759 T>C_LPAERTDSQSLYMVYIALPGRTPRP
11:607852-607852 C>T	1.0	4180	BREAST	-	-	-	-	PHRF1	uc001lqe.3,p.T799M|uc010qwc.2,p.T798M|NM_001286583,p.T795M|ENST00000533464,p.T795M|ENST00000264555,p.T799M|NM_001286582,p.T797M|ENST00000413872,p.T797M|NM_020901,p.T798M|uc009ybz.1,p.T589M|ENST00000534320,p.T799M|ENST00000416188,p.T798M|uc010qwe.2,p.T795M|uc010qwd.2,p.T797M|NM_001286581,p.T799M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qwe.2	nonsynonymous SNV	exon14	c.C2384T	p.T795M	HSSQLSSPGFCNTFRPVDDKEQRKE	HSSQLSSPGFCNMFRPVDDKEQRKE	8.0	5.0	unscreened	-	4180_11:607852-607852 C>T_HSSQLSSPGFCNMFRPVDDKEQRKE
11:77835229-77835229 G>-	1.0	4180	BREAST	-	-	ID=COSM1357157;OCCURENCE=1(large_intestine)	-	ALG8	ENST00000525755,p.P18fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000525755	frameshift deletion	exon2	c.53delC	p.P18fs	HIATSEWTLDYPPFFAWFEYILSHV	HIATSEWTLDYPLSLHGLSISCHMLPNILIKKC	7.0	8.0	unscreened	-	4180_11:77835229-77835229 G>-_HIATSEWTLDYPLSLHGLSISCHMLPNILIKKC
11:77835229-77835229 G>-	1.0	4180	BREAST	-	-	ID=COSM1357157;OCCURENCE=1(large_intestine)	-	ALG8	ENST00000525761,p.P43fs|NM_001007027,p.P69fs|ENST00000376156,p.P69fs|ENST00000299626,p.P69fs|uc001oza.1,p.P69fs|uc001oyz.1,p.P69fs|ENST00000532050,p.P69fs|ENST00000530910,p.P60fs|ENST00000526737,p.P69fs|ENST00000530454,p.P70fs|NM_024079,p.P69fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001oza.1	frameshift deletion	exon3	c.206delC	p.P69fs	YEATSEWTLDYPPFFAWFEYILSHV	YEATSEWTLDYPLSLHGLSISCHMLPNILIKKC	7.0	8.0	unscreened	-	4180_11:77835229-77835229 G>-_YEATSEWTLDYPLSLHGLSISCHMLPNILIKKC
16:56839486-56839486 T>A	1.0	4180	BREAST	-	-	-	-	NUP93	ENST00000568656,p.I144N|ENST00000567641,p.I21N|ENST00000308159,p.I144N|ENST00000569863,p.I21N|ENST00000569842,p.I144N|uc010vhi.2,p.I21N|uc002eka.3,p.I144N|NM_014669,p.I144N|ENST00000564887,p.I21N|NM_001242796,p.I21N|ENST00000568283,p.I21N|NM_001242795,p.I21N|ENST00000542526,p.I21N|uc002ekb.3,p.I21N	retained_intron, protein_coding, processed_transcript, TEC	uc010vhi.2	nonsynonymous SNV	exon3	c.T62A	p.I21N	SMLVEWEQVKQRILHTLLASGEDAL	SMLVEWEQVKQRNLHTLLASGEDAL	10.0	6.0	-	-	4180_16:56839486-56839486 T>A_SMLVEWEQVKQRNLHTLLASGEDAL
3:114058003-114058003 G>-	1.0	4180	BREAST	-	-	ID=COSM1243009,COSM267785;OCCURENCE=1(oesophagus),2(large_intestine)	-	ZBTB20	uc010hqp.3,p.P619fs|NM_001164345,p.P619fs|ENST00000481632,p.P619fs|uc003ebj.3,p.P619fs|NM_001164342,p.P692fs|NM_001164346,p.P619fs|NM_015642,p.P619fs|NM_001164347,p.P619fs|uc003ebm.3,p.P619fs|ENST00000464560,p.P619fs|uc003ebk.3,p.P619fs|ENST00000474710,p.P692fs|ENST00000357258,p.P619fs|uc003ebl.3,p.P619fs|uc003ebi.3,p.P692fs|ENST00000471418,p.P619fs|uc003ebn.3,p.P619fs|ENST00000393785,p.P619fs|NM_001164344,p.P619fs|NM_001164343,p.P619fs|ENST00000462705,p.P619fs	protein_coding, processed_transcript	uc010hqp.3	frameshift deletion	exon6	c.1856delC	p.P619fs	HVALHSASNGTPPAGTPPGARAGPP	HVALHSASNGTPLQAHPQVPALAPQAWWPARRGPLTSAPSAQQSLTKSSSSTTT	6.0	8.0	unscreened	-	4180_3:114058003-114058003 G>-_HVALHSASNGTPLQAHPQVPALAPQAWWPARRGPLTSAPSAQQSLTKSSSSTTT
15:64506305-64506305 C>T	1.0	4180	BREAST	-	-	-	-	CSNK1G1	ENST00000606793,p.V137M|uc002anj.3,p.V137M	protein_coding	uc002anj.3	nonsynonymous SNV	exon8	c.G409A	p.V137M	HLFLFQLSRMEYVHSKNLIYRDVKP	HLFLFQLSRMEYMHSKNLIYRDVKP	6.0	8.0	unscreened	-	4180_15:64506305-64506305 C>T_HLFLFQLSRMEYMHSKNLIYRDVKP
4:79860246-79860246 A>G	1.0	4180	BREAST	-	-	ID=COSM3728220;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	PAQR3	NM_001040202,p.Y45H|ENST00000380645,p.Y45H|ENST00000515853,p.Y45H|ENST00000395594,p.Y45H|ENST00000342820,p.Y45H|ENST00000508599,p.Y45H|ENST00000512760,p.Y45H|ENST00000295462,p.Y45H|uc003hlp.1,p.Y45H|ENST00000511594,p.Y45H|ENST00000512733,p.Y45H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003hlp.1	nonsynonymous SNV	exon1	c.T133C	p.Y45H	YEQIPGSLKDNPYITDGYRAYLPSR	YEQIPGSLKDNPHITDGYRAYLPSR	7.0	6.0	unscreened	-	4180_4:79860246-79860246 A>G_YEQIPGSLKDNPHITDGYRAYLPSR
1:46871279-46871279 C>A	1.0	4180	BREAST	-	-	-	-	FAAH	NM_001441,p.L200I|uc001cpu.2,p.L200I|ENST00000243167,p.L200I	protein_coding, processed_transcript	uc001cpu.2	nonsynonymous SNV	exon5	c.C598A	p.L200I	PQSMFSYDCSNPLFGQTVNPWKSSK	PQSMFSYDCSNPIFGQTVNPWKSSK	8.0	5.0	-	-	4180_1:46871279-46871279 C>A_PQSMFSYDCSNPIFGQTVNPWKSSK
20:18608800-18608800 C>T	1.0	4180	BREAST	-	-	-	-	DTD1	ENST00000377452,p.H134Y|uc002wrf.4,p.H134Y|NM_080820,p.H134Y	protein_coding, processed_transcript	uc002wrf.4	nonsynonymous SNV	exon4	c.C400T	p.H134Y	IKDGKFGAYMQVHIQNDGPVTIELE	IKDGKFGAYMQVYIQNDGPVTIELE	9.0	8.0	-	-	4180_20:18608800-18608800 C>T_IKDGKFGAYMQVYIQNDGPVTIELE
17:37985732-37985732 G>A	0.0	4180	BREAST	0.0005	-	ID=COSM978703;OCCURENCE=1(endometrium)	-	IKZF3	NM_012481,p.A24V|NM_001257413,p.A24V|ENST00000346243,p.A24V|ENST00000350532,p.A24V|uc010cwd.4,p.A24V|ENST00000394189,p.A24V|NM_183232,p.A24V|NM_001257414,p.A24V|ENST00000377952,p.A24V|uc002hsz.4,p.A24V|NM_001257410,p.A24V|ENST00000348427,p.A24V|uc010cwh.4,p.A24V|NM_183230,p.A24V|uc002hta.4,p.A24V|ENST00000377945,p.A24V|NM_001257412,p.A24V|uc010cwf.4,p.A24V|ENST00000351680,p.A24V|NM_183229,p.A24V|ENST00000439016,p.A24V|ENST00000377958,p.A24V|uc010cwg.4,p.A24V|uc010cwe.4,p.A24V|ENST00000467757,p.A24V|uc002hsx.4,p.A24V|ENST00000346872,p.A24V|NM_183231,p.A24V|ENST00000293068,p.A24V|ENST00000377944,p.A24V|NM_001257411,p.A24V|uc002hsu.4,p.A24V|NM_183228,p.A24V|uc002hsy.4,p.A24V|uc002hsw.4,p.A24V	protein_coding, nonsense_mediated_decay	uc010cwh.4	nonsynonymous SNV	exon3	c.C71T	p.A24V	STQEQSVPAESAAVLNDYSLTKSHE	STQEQSVPAESAVVLNDYSLTKSHE	6.0	9.0	unscreened	-	4180_17:37985732-37985732 G>A_STQEQSVPAESAVVLNDYSLTKSHE
6:13325356-13325356 A>G	1.0	4180	BREAST	-	-	-	-	TBC1D7	ENST00000607230,p.Y55H	protein_coding	ENST00000607230	nonsynonymous SNV	exon3	c.T163C	p.Y55H	CTFSQRFPLPSMYRALVWKVLLGLE	CTFSQRFPLPSMHRALVWKVLLGLE	8.0	4.0	unscreened	-	4180_6:13325356-13325356 A>G_CTFSQRFPLPSMHRALVWKVLLGLE
13:48807583-48807583 C>-	1.0	4180	BREAST	-	-	ID=COSM1255083;OCCURENCE=1(oesophagus)	-	ITM2B	uc001vbz.3,p.I29fs|ENST00000378565,p.I29fs|ENST00000378549,p.I29fs|NM_021999,p.I29fs	protein_coding, processed_transcript	uc001vbz.3	frameshift deletion	exon1	c.87delC	p.I29fs	KDEPKSGEEALIIPPDAVAVDCKDP	KDEPKSGEEALIIPPTPSRWTARTQMMWYQLAKEEPGVGACALD	10.0	10.0	unscreened	-	4180_13:48807583-48807583 C>-_KDEPKSGEEALIIPPTPSRWTARTQMMWYQLAKEEPGVGACALD
9:33442882-33442882 G>A	1.0	4180	BREAST	-	-	-	-	AQP3	uc010mju.3,p.H154Y	protein_coding, processed_transcript	uc010mju.3	nonsynonymous SNV	exon4	c.C460T	p.H154Y	GTAGIFATYPSGHLDMINGFFDQDR	GTAGIFATYPSGYLDMINGFFDQDR	7.0	10.0	unscreened	-	4180_9:33442882-33442882 G>A_GTAGIFATYPSGYLDMINGFFDQDR
22:19165805-19165805 ->G	1.0	4180	BREAST	-	-	-	-	SLC25A1	uc021wlb.2,p.E22fs|NM_001256534,p.E22fs	retained_intron, protein_coding, processed_transcript	uc021wlb.2	frameshift insertion	exon1	c.63dupC	p.E22fs	PRRPKSGTGEGPERQRPGGSLRSGF	PRRPKSGTGEGPRAPAAGRESQERVPGPCRRPGGWHRDLHHLPHRVREDAAAAGRALAPAAVPGHRGLRAADGSQPWRPGPVPRP	10.0	10.0	unscreened	-	4180_22:19165805-19165805 ->G_PRRPKSGTGEGPRAPAAGRESQERVPGPCRRPGGWHRDLHHLPHRVREDAAAAGRALAPAAVPGHRGLRAADGSQPWRPGPVPRP
15:64506305-64506305 C>T	1.0	4180	BREAST	-	-	-	-	CSNK1G1	uc002ang.1,p.V155M|ENST00000561349,p.V111M|uc002anf.3,p.V155M|ENST00000303032,p.V155M|ENST00000303052,p.V155M|NM_022048,p.V155M|ENST00000606225,p.V155M|ENST00000607537,p.V155M|uc002anh.1,p.V155M	protein_coding	uc002anh.1	nonsynonymous SNV	exon6	c.G463A	p.V155M	MIAIQLLSRMEYVHSKNLIYRDVKP	MIAIQLLSRMEYMHSKNLIYRDVKP	6.0	8.0	unscreened	-	4180_15:64506305-64506305 C>T_MIAIQLLSRMEYMHSKNLIYRDVKP
14:21868218-21868218 C>T	1.0	4180	BREAST	-	-	-	-	CHD8	ENST00000557364,p.R1580Q|uc001was.2,p.R1301Q|ENST00000399982,p.R1580Q|uc001war.2,p.R1580Q|ENST00000430710,p.R1301Q|NM_001170629,p.R1580Q|NM_020920,p.R1301Q	retained_intron, protein_coding, processed_transcript	uc001was.2	nonsynonymous SNV	exon25	c.G3902A	p.R1301Q	KHLKHQCNKVLLRVRMLYYLRQEVI	KHLKHQCNKVLLQVRMLYYLRQEVI	9.0	7.0	unscreened	-	4180_14:21868218-21868218 C>T_KHLKHQCNKVLLQVRMLYYLRQEVI
6:134350592-134350592 A>G	1.0	4180	BREAST	-	-	-	-	SLC2A12	ENST00000275230,p.L124S|uc003qem.1,p.L124S|NM_145176,p.L124S	protein_coding	uc003qem.1	nonsynonymous SNV	exon2	c.T371C	p.L124S	LSSCLLGLGSLVLILSLSYTVLIVG	LSSCLLGLGSLVSILSLSYTVLIVG	6.0	8.0	unscreened	-	4180_6:134350592-134350592 A>G_LSSCLLGLGSLVSILSLSYTVLIVG
9:139686175-139686175 T>C	1.0	4180	BREAST	-	-	-	-	TMEM141	ENST00000290079,p.Y23H|uc011meg.1,p.Y23H|NM_032928,p.Y23H|uc004cje.4,p.Y23H	retained_intron, protein_coding, processed_transcript	uc011meg.1	nonsynonymous SNV	exon2	c.T67C	p.Y23H	DAVAAKHPGLGEYAACQSHAFMKGV	DAVAAKHPGLGEHAACQSHAFMKGV	10.0	9.0	-	-	4180_9:139686175-139686175 T>C_DAVAAKHPGLGEHAACQSHAFMKGV
1:227152869-227152869 G>A	1.0	4180	BREAST	-	-	-	-	ADCK3	uc010pvp.1,p.A79T|ENST00000366778,p.A64T|uc009xeq.1,p.A64T|uc001hqn.1,p.A116T|NM_020247,p.A116T|ENST00000366779,p.A116T|uc001hqm.1,p.A116T|ENST00000366777,p.A116T	protein_coding, processed_transcript	uc010pvp.1	nonsynonymous SNV	exon4	c.G235A	p.A79T	PPSLGHAHSEGPAPAYVASGPFREA	PPSLGHAHSEGPTPAYVASGPFREA	9.0	7.0	unscreened	-	4180_1:227152869-227152869 G>A_PPSLGHAHSEGPTPAYVASGPFREA
18:9550349-9550349 T>C	1.0	4180	BREAST	-	-	-	-	PPP4R1	uc010wzo.2,p.D626G|uc002koe.2,p.D780G|ENST00000400556,p.D780G|NM_005134,p.D763G|uc002kod.2,p.D763G|NM_001042388,p.D780G|ENST00000400555,p.D763G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wzo.2	nonsynonymous SNV	exon13	c.A1877G	p.D626G	LLLELYSPRDVYDYLRPIALNLCAD	LLLELYSPRDVYGYLRPIALNLCAD	10.0	5.0	unscreened	-	4180_18:9550349-9550349 T>C_LLLELYSPRDVYGYLRPIALNLCAD
10:12123621-12123621 C>T	1.0	4180	BREAST	-	-	-	-	DHTKD1	uc001ild.5,p.T102M|ENST00000263035,p.T102M|NM_018706,p.T102M|ENST00000437298,p.T102M	protein_coding, processed_transcript	uc001ild.5	nonsynonymous SNV	exon2	c.C305T	p.T102M	QALVQTLQGPFHTAGLLNMGKEEAS	QALVQTLQGPFHMAGLLNMGKEEAS	10.0	7.0	unscreened	-	4180_10:12123621-12123621 C>T_QALVQTLQGPFHMAGLLNMGKEEAS
17:74729119-74729119 A>G	1.0	4180	BREAST	-	-	-	-	METTL23	ENST00000586738,p.I48M|NM_001206983,p.I48M|ENST00000592849,p.I48M|uc021udk.1,p.I48M|uc021udl.1,p.I48M|ENST00000588563,p.I48M|uc002jsr.3,p.I48M|NM_001080510,p.I48M|ENST00000588783,p.I48M|ENST00000341249,p.I48M|ENST00000587459,p.I20M|NM_001206984,p.I48M|ENST00000589977,p.I48M	retained_intron, protein_coding	uc021udl.1	nonsynonymous SNV	exon3	c.A144G	p.I48M	PGILAAKCGAEVILSDSSELPHCLE	PGILAAKCGAEVMLSDSSELPHCLE	9.0	8.0	unscreened	-	4180_17:74729119-74729119 A>G_PGILAAKCGAEVMLSDSSELPHCLE
3:49051430-49051430 C>-	1.0	4180	BREAST	-	-	-	-	WDR6	NM_018031,p.D851fs|uc003cvj.2,p.D851fs|uc011bby.1,p.D299fs|uc010hkn.2,p.D795fs|ENST00000415265,p.D269fs|uc011bbz.1,p.D770fs|ENST00000395474,p.D851fs|ENST00000448293,p.D770fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bbz.1	frameshift deletion	exon2	c.2310delC	p.D770fs	AEMHCFSIMVTPDPSTPSRLACHVM	AEMHCFSIMVTPDPAPQAASPAMSCTFRPTG	9.0	8.0	unscreened	-	4180_3:49051430-49051430 C>-_AEMHCFSIMVTPDPAPQAASPAMSCTFRPTG
13:98662384-98662384 A>G	1.0	4180	BREAST	-	-	-	-	IPO5	uc001vng.1,p.D275G|ENST00000261574,p.D672G|ENST00000539640,p.D529G|uc010tik.1,p.D529G|uc010til.1,p.D594G|ENST00000490680,p.D654G|uc001vnf.1,p.D654G|NM_002271,p.D672G|uc001vne.3,p.D672G|ENST00000357602,p.D654G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010til.1	nonsynonymous SNV	exon17	c.A1781G	p.D594G	LLDTQDMENMSDDDGWEFVNLGDQQ	LLDTQDMENMSDGDGWEFVNLGDQQ	10.0	8.0	-	-	4180_13:98662384-98662384 A>G_LLDTQDMENMSDGDGWEFVNLGDQQ
6:64422151-64422151 C>T	1.0	4180	BREAST	-	-	-	-	PHF3	ENST00000262043,p.T1556M|ENST00000515594,p.T825M|NM_001290259,p.T1468M|NM_015153,p.T1556M|uc003pen.2,p.T1468M|uc011dxs.1,p.T825M|uc003pep.1,p.T1556M|ENST00000393387,p.T1556M	protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxs.1	nonsynonymous SNV	exon14	c.C2474T	p.T825M	VVGSSSISAGSLTSLSLRGKPPDVS	VVGSSSISAGSLMSLSLRGKPPDVS	8.0	7.0	unscreened	-	4180_6:64422151-64422151 C>T_VVGSSSISAGSLMSLSLRGKPPDVS
9:33442882-33442882 G>A	1.0	4180	BREAST	-	-	-	-	AQP3	ENST00000297991,p.H154Y|uc003zsx.3,p.H154Y|NM_004925,p.H154Y	protein_coding, processed_transcript	uc003zsx.3	nonsynonymous SNV	exon4	c.C460T	p.H154Y	GTAGIFATYPSGHLDMINGFFDQFI	GTAGIFATYPSGYLDMINGFFDQFI	7.0	10.0	unscreened	-	4180_9:33442882-33442882 G>A_GTAGIFATYPSGYLDMINGFFDQFI
X:75650698-75650698 G>A	1.0	4180	BREAST	-	-	-	-	MAGEE1	uc004ecm.2,p.R792H|NM_020932,p.R792H|ENST00000361470,p.R792H	protein_coding	uc004ecm.2	nonsynonymous SNV	exon1	c.G2375A	p.R792H	SKVFPDLLNRAARTLNHVYGTELVV	SKVFPDLLNRAAHTLNHVYGTELVV	5.0	9.0	unscreened	-	4180_X:75650698-75650698 G>A_SKVFPDLLNRAAHTLNHVYGTELVV
3:100039736-100039736 A>-	1.0	4180	BREAST	-	-	ID=COSM1417276,COSM1417275;OCCURENCE=11(large_intestine)	-	TBC1D23	uc003dtt.4,p.K647fs|ENST00000394144,p.K647fs|uc003dts.4,p.K632fs|NM_018309,p.K632fs|uc003dtu.4,p.K78fs|ENST00000344949,p.K632fs|NM_001199198,p.K647fs|ENST00000475134,p.K510fs	retained_intron, protein_coding, processed_transcript	uc003dtu.4	frameshift deletion	exon3	c.232delA	p.K78fs	RQALNSVVKITSKKKHPELITFKYG	RQALNSVVKITSKKNILNSLPSSMEIAVLQE	7.0	3.0	unscreened	-	4180_3:100039736-100039736 A>-_RQALNSVVKITSKKNILNSLPSSMEIAVLQE
9:131019390-131019390 A>-	1.0	4180	BREAST	-	-	ID=COSM253001;OCCURENCE=1(ovary),1(large_intestine),1(stomach)	-	GOLGA2	NM_004486,p.Y989fs|uc011maw.2,p.Y989fs|uc010mxw.3,p.Y312fs|ENST00000421699,p.Y989fs|uc004buh.3,p.Y339fs	retained_intron, protein_coding	uc011maw.2	frameshift deletion	exon26	c.2965delT	p.Y989fs	PGLGSNPCIPFFYRADENDEVKITV	PGLGSNPCIPFFTGLTRMMR	9.0	9.0	-	-	4180_9:131019390-131019390 A>-_PGLGSNPCIPFFTGLTRMMR
12:6494516-6494516 G>A	1.0	4180	BREAST	-	-	-	-	LTBR	ENST00000543190,p.C41Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000543190	nonsynonymous SNV	exon4	c.G122A	p.C41Y	ALECTHCELLSDCPPGTEAELKGVR	ALECTHCELLSDYPPGTEAELKGVR	10.0	6.0	-	-	4180_12:6494516-6494516 G>A_ALECTHCELLSDYPPGTEAELKGVR
2:127828380-127828380 G>A	1.0	4180	BREAST	-	-	-	-	BIN1	uc010yzf.2,p.R36W|ENST00000351659,p.R60W|uc002tob.2,p.R60W|uc002tnv.2,p.R60W|NM_139348,p.R60W|ENST00000409400,p.R60W|uc010yzg.2,p.R60W|NM_139345,p.R60W|uc002tnx.2,p.R60W|ENST00000393041,p.R60W|ENST00000352848,p.R60W|ENST00000346226,p.R60W|NM_139349,p.R60W|ENST00000376113,p.R60W|ENST00000357970,p.R60W|NM_139344,p.R60W|uc002tnw.2,p.R60W|ENST00000348750,p.R60W|NM_139343,p.R60W|uc002toa.2,p.R60W|NM_139350,p.R60W|uc002tnu.2,p.R60W|uc002tnt.2,p.R60W|NM_139347,p.R60W|NM_004305,p.R60W|ENST00000316724,p.R60W|ENST00000393040,p.R60W|uc002tny.2,p.R60W|ENST00000259238,p.R60W|uc002tns.2,p.R60W|uc002toc.2,p.R60W|NM_139351,p.R60W|uc002tnz.2,p.R60W|NM_139346,p.R60W	retained_intron, protein_coding, processed_transcript	uc010yzg.2	nonsynonymous SNV	exon3	c.C178T	p.R60W	VQNFNKQLTEGTRLQKDLRTYLASV	VQNFNKQLTEGTWLQKDLRTYLASV	9.0	6.0	unscreened	-	4180_2:127828380-127828380 G>A_VQNFNKQLTEGTWLQKDLRTYLASV
19:38610300-38610300 G>-	0.0	4180	BREAST	-	-	-	-	SIPA1L3	uc002ohk.3,p.Q882fs|ENST00000222345,p.Q882fs|NM_015073,p.Q882fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ohk.3	frameshift deletion	exon9	c.2646delG	p.Q882fs	AIAWRVVAQDYAQGVEIDCILGISN	AIAWRVVAQDYAQGWKSTAFWEFPMSLWCSWTYAPRRWCSTATAGMSLAGLQTPPHSKSSMDEETTSSYRRQRVLWRT	8.0	1.0	unscreened	-	4180_19:38610300-38610300 G>-_AIAWRVVAQDYAQGWKSTAFWEFPMSLWCSWTYAPRRWCSTATAGMSLAGLQTPPHSKSSMDEETTSSYRRQRVLWRT
2:128528528-128528530 GAG>-	1.0	4180	BREAST	-	-	-	-	WDR33	uc002tpi.2,p.9_10del|uc002tpg.2,p.9_10del|ENST00000393006,p.9_10del|uc002tph.2,p.9_10del|ENST00000322313,p.9_10del|NM_001006623,p.9_10del|ENST00000409658,p.9_10del|NM_001006622,p.9_10del|NM_018383,p.9_10del	protein_coding	uc002tpi.2	nonframeshift deletion	exon2	c.26_28del	p.9_10del	MATEIGSPPRFFHMPRFQHQA	MATEIGSPRFFHMPRFQHQAP	8.0	4.0	unscreened	-	4180_2:128528528-128528530 GAG>-_MATEIGSPRFFHMPRFQHQAP
11:27402452-27402452 A>T	1.0	4180	BREAST	-	-	-	-	LGR4	ENST00000379214,p.L274I|uc001mrk.4,p.L250I|ENST00000389858,p.L250I|uc001mrj.4,p.L274I|NM_018490,p.L274I	retained_intron, protein_coding, processed_transcript	uc001mrk.4	nonsynonymous SNV	exon7	c.T748A	p.L250I	VIPDGAFDGNPLLRTIHLYDNPLSF	VIPDGAFDGNPLIRTIHLYDNPLSF	7.0	9.0	unscreened	-	4180_11:27402452-27402452 A>T_VIPDGAFDGNPLIRTIHLYDNPLSF
18:43685174-43685174 A>-	1.0	4180	BREAST	-	-	ID=COSM1388788;OCCURENCE=2(large_intestine)	-	HAUS1	ENST00000282058,p.L15fs|ENST00000592206,p.L15fs|uc002lbu.3,p.L15fs|ENST00000586060,p.L15fs|ENST00000591715,p.L15fs|ENST00000589554,p.L15fs|NM_138443,p.L15fs|ENST00000585518,p.L15fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lbu.3	frameshift deletion	exon2	c.45delA	p.L15fs	PQEERETQVAAWLKKIFGDHPIPQY	PQEERETQVAAWLKKYLEIILFHSMR	9.0	10.0	unscreened	-	4180_18:43685174-43685174 A>-_PQEERETQVAAWLKKYLEIILFHSMR
2:25064236-25064236 A>G	1.0	4180	BREAST	-	-	-	-	ADCY3	uc002rfs.4,p.I363T|ENST00000606682,p.I34T|ENST00000435135,p.I313T|NM_004036,p.I363T|ENST00000427849,p.I119T|ENST00000260600,p.I363T|ENST00000433852,p.I141T|uc010ykm.2,p.I363T	retained_intron, protein_coding, processed_transcript	uc010ykm.2	nonsynonymous SNV	exon5	c.T1088C	p.I363T	FDKLAAKYHQLRIKILGDCYYCICG	FDKLAAKYHQLRTKILGDCYYCICG	10.0	3.0	unscreened	-	4180_2:25064236-25064236 A>G_FDKLAAKYHQLRTKILGDCYYCICG
12:6494516-6494516 G>A	1.0	4180	BREAST	-	-	-	-	LTBR	ENST00000539925,p.C129Y|ENST00000541102,p.C41Y|ENST00000228918,p.C148Y|uc001qny.2,p.C148Y|NM_001270987,p.C129Y|uc010sfc.2,p.C129Y|ENST00000544454,p.C41Y|uc001qnz.2,p.C143Y|ENST00000536876,p.C143Y|NM_002342,p.C148Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sfc.2	nonsynonymous SNV	exon4	c.G386A	p.C129Y	ALECTHCELLSDCPPGTEAELKDEV	ALECTHCELLSDYPPGTEAELKDEV	10.0	6.0	-	-	4180_12:6494516-6494516 G>A_ALECTHCELLSDYPPGTEAELKDEV
12:133146691-133146691 C>-	1.0	4180	BREAST	-	-	-	-	FBRSL1	ENST00000261673,p.P218fs|uc001ukf.3,p.P291fs|NM_001142641,p.P291fs|ENST00000434748,p.P291fs	retained_intron, protein_coding, processed_transcript	uc001ukf.3	frameshift deletion	exon7	c.871delC	p.P291fs	PGSRANPLVKKEPPAPHRHTPQPPP	PGSRANPLVKKEPPPRTATPRSRHPRSPAACSRHTCLHPWAPSRATARRQPTACTASAGAAAPPWAWGSTCRCRHTGRAPTCLPHTWRSGPRRSTSSTRPCLPHPRHCPRPRRCRPAAWSSQDTRPITSCSGKS	9.0	10.0	unscreened	-	4180_12:133146691-133146691 C>-_PGSRANPLVKKEPPPRTATPRSRHPRSPAACSRHTCLHPWAPSRATARRQPTACTASAGAAAPPWAWGSTCRCRHTGRAPTCLPHTWRSGPRRSTSSTRPCLPHPRHCPRPRRCRPAAWSSQDTRPITSCSGKS
10:100186986-100186986 ->G	1.0	4180	BREAST	-	-	ID=COSM3685965,COSM298286;OCCURENCE=2(large_intestine)	-	HPS1	ENST00000359632,p.M120fs|NM_000195,p.M325fs|uc021pwv.1,p.M325fs|ENST00000325103,p.M325fs|ENST00000361490,p.M325fs	protein_coding, processed_transcript	uc021pwv.1	frameshift insertion	exon11	c.972dupC	p.M325fs	GSTIWLEGGTPPMDALQIAEDTLQT	GSTIWLEGGTPPHGCPSDSRGHPPNTGSPLPCAFRPQKDLPGCQREGKLLPPSAPHHVLPAPVAGHQPGAPDQEPQRAPGPGSVPADGWLLHAGEEAEGRAGARGLPALPAPRGRPAPEDGQVCQESRGTGDSEHLAGV	9.0	9.0	unscreened	-	4180_10:100186986-100186986 ->G_GSTIWLEGGTPPHGCPSDSRGHPPNTGSPLPCAFRPQKDLPGCQREGKLLPPSAPHHVLPAPVAGHQPGAPDQEPQRAPGPGSVPADGWLLHAGEEAEGRAGARGLPALPAPRGRPAPEDGQVCQESRGTGDSEHLAGV
2:33614305-33614305 G>A	1.0	4180	BREAST	-	-	-	-	LTBP1	uc010yna.2,p.G1168E|uc002rov.3,p.G1210E|uc002rou.3,p.G1263E|ENST00000418533,p.G1221E|uc010ymz.2,p.G1221E|ENST00000404525,p.G1210E|ENST00000402934,p.G1208E|ENST00000390003,p.G1264E|ENST00000407925,p.G1263E|ENST00000272273,p.G487E|ENST00000404816,p.G1589E|uc021vft.1,p.G1589E|NM_000627,p.G1263E|NM_206943,p.G1589E|uc010ynb.2,p.G487E|NM_001166266,p.G1168E|NM_001166265,p.G1210E|NM_001166264,p.G1221E|ENST00000354476,p.G1590E	protein_coding, processed_transcript	uc021vft.1	nonsynonymous SNV	exon32	c.G4766A	p.G1589E	CNIPVTGRRQPYGRDALVDFSEQYT	CNIPVTGRRQPYERDALVDFSEQYT	9.0	4.0	unscreened	-	4180_2:33614305-33614305 G>A_CNIPVTGRRQPYERDALVDFSEQYT
22:32017386-32017386 C>-	1.0	4180	BREAST	-	-	-	-	PISD	ENST00000397500,p.V177fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000397500	frameshift deletion	exon5	c.529delG	p.V177fs	QVKNCEVEQVKGVTYSLESFLGPRM	QVKNCEVEQVKGSPTPWSRSWARVCAQRTCPSHQPRRVTPSRTSWSPGKGMSSITVSSTWPLGTTTASTPPPTGLCPTGATSQDLHTNSPRHSKGSYN	8.0	5.0	unscreened	-	4180_22:32017386-32017386 C>-_QVKNCEVEQVKGSPTPWSRSWARVCAQRTCPSHQPRRVTPSRTSWSPGKGMSSITVSSTWPLGTTTASTPPPTGLCPTGATSQDLHTNSPRHSKGSYN
22:32017386-32017386 C>-	1.0	4180	BREAST	-	-	-	-	PISD	ENST00000439502,p.V211fs|ENST00000336566,p.V210fs|uc003alm.4,p.V211fs|uc003alk.2,p.V177fs|NM_014338,p.V177fs|uc011alr.1,p.V177fs|ENST00000382151,p.V177fs|ENST00000266095,p.V177fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011alr.1	frameshift deletion	exon5	c.529delG	p.V177fs	QVKNCEVEQVKGVTYSLESFLGPRM	QVKNCEVEQVKGSPTPWSRSWARVCAQRTCPSHQPRRVTPSRTSWSPGKGMSSITVSSTWPLGTTTASTPPPTGLCPTGATSQAP	8.0	5.0	unscreened	-	4180_22:32017386-32017386 C>-_QVKNCEVEQVKGSPTPWSRSWARVCAQRTCPSHQPRRVTPSRTSWSPGKGMSSITVSSTWPLGTTTASTPPPTGLCPTGATSQAP
20:62198574-62198574 C>T	1.0	4180	BREAST	-	-	-	-	HELZ2	NM_033405,p.E144K|NM_001037335,p.E713K|uc002yfm.2,p.E713K|ENST00000467148,p.E713K|uc002yfl.1,p.E144K|ENST00000427522,p.E144K	retained_intron, protein_coding, processed_transcript	uc002yfm.2	nonsynonymous SNV	exon7	c.G2137A	p.E713K	PRLFSVARARAAEHTLLHRLFLCYQ	PRLFSVARARAAKHTLLHRLFLCYQ	7.0	8.0	unscreened	-	4180_20:62198574-62198574 C>T_PRLFSVARARAAKHTLLHRLFLCYQ
11:9445412-9445412 G>A	1.0	4180	BREAST	-	-	-	-	IPO7	uc001mho.3,p.R377H|ENST00000379719,p.R377H|NM_006391,p.R377H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001mho.3	nonsynonymous SNV	exon10	c.G1130A	p.R377H	EELWQEDPYEYIRMKFDVFEDFISP	EELWQEDPYEYIHMKFDVFEDFISP	9.0	8.0	-	-	4180_11:9445412-9445412 G>A_EELWQEDPYEYIHMKFDVFEDFISP
20:47850238-47850238 T>C	1.0	4180	BREAST	-	-	-	-	DDX27	NM_017895,p.I453T|ENST00000371764,p.I453T|uc002xuh.3,p.I453T	protein_coding, processed_transcript	uc002xuh.3	nonsynonymous SNV	exon11	c.T1358C	p.I453T	RIRPNREGDREAIVAALLTRTFTDH	RIRPNREGDREATVAALLTRTFTDH	10.0	8.0	-	-	4180_20:47850238-47850238 T>C_RIRPNREGDREATVAALLTRTFTDH
8:144995446-144995446 T>A	1.0	4180	BREAST	-	-	-	-	PLEC	uc003zae.1,p.D2816V|ENST00000345136,p.D2848V|ENST00000322810,p.D2985V|NM_000445,p.D2875V|uc003zad.2,p.D2848V|NM_201382,p.D2848V|ENST00000398774,p.D2816V|uc003zaj.2,p.D2875V|NM_201379,p.D2826V|uc003zah.2,p.D2834V|ENST00000436759,p.D2875V|NM_201383,p.D2852V|ENST00000357649,p.D2852V|uc003zac.1,p.D2852V|ENST00000356346,p.D2834V|NM_201380,p.D2985V|NM_201381,p.D2816V|uc003zaf.1,p.D2985V|ENST00000527096,p.D2871V|uc003zag.1,p.D2826V|NM_201378,p.D2834V|ENST00000354589,p.D2848V|ENST00000354958,p.D2826V|uc003zab.1,p.D2848V|NM_201384,p.D2848V	retained_intron, protein_coding	uc003zaj.2	nonsynonymous SNV	exon33	c.A8624T	p.D2875V	DEEMNRVLADPSDDTKGFFDPNTHE	DEEMNRVLADPSVDTKGFFDPNTHE	9.0	6.0	unscreened	-	4180_8:144995446-144995446 T>A_DEEMNRVLADPSVDTKGFFDPNTHE
1:45120712-45120712 A>T	1.0	4180	BREAST	-	-	-	-	TMEM53	uc001cmc.3,p.M118K|ENST00000372242,p.M118K|NM_001300748,p.M87K|NM_001300747,p.M88K|NM_001300746,p.M45K|ENST00000372237,p.M118K|uc001cmd.3,p.M45K|ENST00000420706,p.M87K|NM_024587,p.M118K|ENST00000372235,p.M88K	protein_coding, processed_transcript	uc001cmd.3	nonsynonymous SNV	exon2	c.T134A	p.M45K	PLLFHVFSNGGVMLYRYVLELLQTR	PLLFHVFSNGGVKLYRYVLELLQTR	8.0	5.0	unscreened	-	4180_1:45120712-45120712 A>T_PLLFHVFSNGGVKLYRYVLELLQTR
9:139943410-139943410 C>T	1.0	4180	BREAST	-	-	-	-	ENTPD2	uc022bqb.1,p.V65M|uc004ckv.2,p.V112M|uc004ckx.2,p.V400M|uc004ckw.2,p.V423M|ENST00000312665,p.V400M|NM_001246,p.V400M|NM_203468,p.V423M|ENST00000355097,p.V423M	protein_coding, processed_transcript	uc022bqb.1	nonsynonymous SNV	exon3	c.G193A	p.V65M	RGYGFDERAFGGVIFQKKAADTAVG	RGYGFDERAFGGMIFQKKAADTAVG	5.0	10.0	unscreened	-	4180_9:139943410-139943410 C>T_RGYGFDERAFGGMIFQKKAADTAVG
1:14108749-14108749 A>-	1.0	4180	BREAST	-	-	ID=COSM297202;OCCURENCE=1(stomach),2(large_intestine)	2	PRDM2	uc001avk.3,p.K1286fs|NM_001007257,p.K1286fs|NM_012231,p.K1487fs|ENST00000311066,p.K1487fs|ENST00000343137,p.K1286fs|ENST00000413440,p.K1286fs|ENST00000235372,p.K1487fs|uc001avi.3,p.K1487fs|NM_015866,p.K1487fs|uc001avh.3,p.K1487fs	protein_coding, processed_transcript, nonsense_mediated_decay, ambiguous_orf	uc001avk.3	frameshift deletion	exon4	c.3856delA	p.K1286fs	AFSCPKKPLSPPKKKVSHSSKKGGH	AFSCPKKPLSPPKKKFLIHLRKVDTHHLQVVTKTVTATTADGQRMRRLKCKACRLRWARPEPAAQAPPKSHFPPHPSGPSRTSSLQLR	7.0	4.0	unscreened	-	4180_1:14108749-14108749 A>-_AFSCPKKPLSPPKKKFLIHLRKVDTHHLQVVTKTVTATTADGQRMRRLKCKACRLRWARPEPAAQAPPKSHFPPHPSGPSRTSSLQLR
4:85562043-85562043 G>A	1.0	4180	BREAST	-	-	-	-	CDS1	ENST00000295887,p.R311Q|uc011ccv.2,p.R311Q|uc010ike.1,p.R115Q|NM_001263,p.R311Q	protein_coding, nonsense_mediated_decay	uc011ccv.2	nonsynonymous SNV	exon10	c.G932A	p.R311Q	SKYQYFVCPVEYRSDVNSFVTECEP	SKYQYFVCPVEYQSDVNSFVTECEP	7.0	4.0	unscreened	-	4180_4:85562043-85562043 G>A_SKYQYFVCPVEYQSDVNSFVTECEP
3:148760013-148760013 G>A	1.0	4180	BREAST	-	-	-	-	HLTF	ENST00000467858,p.R177W|ENST00000494055,p.R713W|ENST00000310053,p.R713W|uc003ewq.1,p.R713W|uc003ewr.1,p.R713W|ENST00000392912,p.R713W|uc003ews.1,p.R712W|NM_003071,p.R713W|NM_139048,p.R713W|ENST00000465259,p.R712W|uc010hve.1,p.R712W	retained_intron, protein_coding, processed_transcript	uc010hve.1	nonsynonymous SNV	exon19	c.C2134T	p.R712W	HYADVLGLLLRLRQICCHTYLLTNA	HYADVLGLLLRLWQICCHTYLLTNA	7.0	5.0	unscreened	-	4180_3:148760013-148760013 G>A_HYADVLGLLLRLWQICCHTYLLTNA
8:103338779-103338779 T>C	1.0	4180	BREAST	-	-	-	1	UBR5	NM_001282873,p.T532A|uc003yks.2,p.T532A|ENST00000220959,p.T532A|NM_015902,p.T532A|ENST00000520539,p.T532A|ENST00000521922,p.T526A|uc003ykr.2,p.T532A	retained_intron, protein_coding, processed_transcript	uc003yks.2	nonsynonymous SNV	exon13	c.A1594G	p.T532A	AGISSMPNITVGTQVCLRNNPLYHA	AGISSMPNITVGAQVCLRNNPLYHA	9.0	1.0	unscreened	-	4180_8:103338779-103338779 T>C_AGISSMPNITVGAQVCLRNNPLYHA
1:52798569-52798569 A>T	1.0	4180	BREAST	-	-	-	-	ZFYVE9	ENST00000371591,p.I1190F|uc001ctp.4,p.I1131F|ENST00000357206,p.I1131F|NM_007324,p.I1131F|NM_004799,p.I1190F|uc001cto.4,p.I1190F|ENST00000287727,p.I1190F	protein_coding, processed_transcript	uc001ctp.4	nonsynonymous SNV	exon13	c.A3391T	p.I1131F	NDDGNYQTQAISIHNQPRKVTGASF	NDDGNYQTQAISFHNQPRKVTGASF	7.0	8.0	unscreened	-	4180_1:52798569-52798569 A>T_NDDGNYQTQAISFHNQPRKVTGASF
8:144406251-144406251 A>G	1.0	4180	BREAST	-	-	-	-	TOP1MT	ENST00000519139,p.I195T|ENST00000523676,p.I195T|ENST00000522041,p.I195T|ENST00000521193,p.I195T|uc010mfd.2,p.I88T|ENST00000329245,p.I293T|NM_001258447,p.I195T|NM_052963,p.I293T|uc011lke.3,p.I195T|uc003yxz.4,p.I293T|uc011lkd.3,p.I195T|uc011lkf.2,p.I88T|NM_001258446,p.I195T|ENST00000519148,p.I195T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lkf.2	nonsynonymous SNV	exon3	c.T263C	p.I88T	ETARRLRGFVDEIRSQYRADWKSRE	ETARRLRGFVDETRSQYRADWKSRE	10.0	5.0	unscreened	-	4180_8:144406251-144406251 A>G_ETARRLRGFVDETRSQYRADWKSRE
X:79952332-79952332 T>C	1.0	4180	BREAST	-	-	-	-	BRWD3	NM_153252,p.K992E|uc004edq.3,p.K588E|uc004edx.3,p.K588E|uc004edy.3,p.K588E|ENST00000373275,p.K992E|uc004edr.3,p.K662E|uc004edp.3,p.K821E|uc004eeb.3,p.K588E|uc004edz.3,p.K662E|uc004edw.3,p.K588E|uc004edt.3,p.K992E|uc004eds.3,p.K588E|uc004edv.3,p.K588E|uc010nmj.2,p.K588E|uc004eea.3,p.K662E|uc004edu.3,p.K662E|uc004edo.3,p.K588E	protein_coding, processed_transcript	uc010nmj.2	nonsynonymous SNV	exon21	c.A1762G	p.K588E	LREQEFVKIVGIKYEVGPPTLCCLK	LREQEFVKIVGIEYEVGPPTLCCLK	7.0	8.0	unscreened	-	4180_X:79952332-79952332 T>C_LREQEFVKIVGIEYEVGPPTLCCLK
2:114500277-114500277 A>-	1.0	4180	BREAST	-	-	ID=COSM111375;OCCURENCE=2(ovary),9(large_intestine),1(pancreas)	-	SLC35F5	ENST00000245680,p.C248fs|uc002tku.1,p.C248fs|NM_025181,p.C248fs|ENST00000409106,p.C242fs	retained_intron, protein_coding, processed_transcript	uc002tku.1	frameshift deletion	exon7	c.742delT	p.C248fs	TATQVAKISFFFCFVWFLANLSYQE	TATQVAKISFFFALCGFWQICHIKKHFQTHKLL	6.0	10.0	unscreened	-	4180_2:114500277-114500277 A>-_TATQVAKISFFFALCGFWQICHIKKHFQTHKLL
6:32945691-32945694 AGGA>-	1.0	4180	BREAST	-	-	-	-	BRD2	ENST00000395289,p.E496fs|NM_001199456,p.E449fs|uc021ywf.1,p.E449fs|ENST00000443797,p.E376fs|NM_001291986,p.E376fs|ENST00000395287,p.E496fs|NM_005104,p.E496fs|ENST00000374825,p.E496fs|NM_001199455,p.E496fs|uc003ocp.4,p.E376fs|uc010juh.3,p.E496fs|ENST00000607833,p.E496fs|uc003ocq.4,p.E496fs|ENST00000449085,p.E449fs|ENST00000374831,p.E496fs|NM_001113182,p.E496fs|uc003ocn.4,p.E496fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ywf.1	frameshift deletion	exon8	c.1346_1349del	p.E449fs	ESSSESSSEEEEEEDEEDEEEEESE	ESSSESSSEEEEEMRRTRRKKRVKAQTQRKKGLIA	10.0	7.0	unscreened	-	4180_6:32945691-32945694 AGGA>-_ESSSESSSEEEEEMRRTRRKKRVKAQTQRKKGLIA
22:51043283-51043283 C>T	1.0	4180	BREAST	-	-	-	-	MAPK8IP2	ENST00000399912,p.T253M|ENST00000399908,p.T253M|ENST00000341339,p.T139M|ENST00000329492,p.T518M|ENST00000008876,p.T224M	protein_coding	ENST00000399912	nonsynonymous SNV	exon5	c.C758T	p.T253M	DAVKYTLVVDEHTQLELVSLRRCAG	DAVKYTLVVDEHMQLELVSLRRCAG	8.0	9.0	unscreened	-	4180_22:51043283-51043283 C>T_DAVKYTLVVDEHMQLELVSLRRCAG
6:136878946-136878946 G>T	1.0	4180	BREAST	-	-	-	-	MAP3K5	uc011edj.2,p.L606M|NM_005923,p.L1359M|uc003qhc.3,p.L1359M|ENST00000359015,p.L1359M|ENST00000355845,p.L606M	protein_coding, processed_transcript	uc011edj.2	nonsynonymous SNV	exon20	c.C1816A	p.L606M	DDLKCLRLRGGMLCTLWKAIIDFRN	DDLKCLRLRGGMMCTLWKAIIDFRN	7.0	10.0	unscreened	-	4180_6:136878946-136878946 G>T_DDLKCLRLRGGMMCTLWKAIIDFRN
18:21083646-21083646 C>A	1.0	4180	BREAST	-	-	-	-	C18orf8	NM_013326,p.P22T|ENST00000587690,p.P22T|ENST00000589215,p.P22T|ENST00000590870,p.P22T|uc010xav.2,p.P22T|uc021uie.2,p.P22T|ENST00000590868,p.P22T|ENST00000589860,p.P22T|ENST00000592119,p.P22T|NM_001276342,p.P22T|ENST00000269221,p.P22T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021uie.2	nonsynonymous SNV	exon1	c.C64A	p.P22T	LCERPVQFEKANPVNCVFFDEANKQ	LCERPVQFEKANTVNCVFFDEANKQ	8.0	6.0	unscreened	-	4180_18:21083646-21083646 C>A_LCERPVQFEKANTVNCVFFDEANKQ
11:117280457-117280457 C>T	1.0	4180	BREAST	-	-	-	-	CEP164	uc001prg.1,p.P716L|ENST00000278935,p.P1291L|uc001prc.3,p.P1291L|NM_001271933,p.P1286L|NM_014956,p.P1291L|uc001prb.4,p.P1286L	retained_intron, protein_coding, processed_transcript	uc001prg.1	nonsynonymous SNV	exon16	c.C2147T	p.P716L	LSILDSLNPQSPPPLLASMPAQLPP	LSILDSLNPQSPLPLLASMPAQLPP	8.0	6.0	unscreened	-	4180_11:117280457-117280457 C>T_LSILDSLNPQSPLPLLASMPAQLPP
1:26888131-26888131 G>A	0.0	4180	BREAST	-	-	-	-	RPS6KA1	NM_002953,p.V523M|uc009vsl.1,p.V366M|ENST00000374166,p.V512M|uc010off.1,p.V507M|ENST00000531382,p.V532M|ENST00000403732,p.V139M|ENST00000526792,p.V431M|ENST00000374162,p.V431M|uc010ofe.1,p.V431M|NM_001006665,p.V532M|uc001bmr.1,p.V523M|uc001bms.1,p.V532M|ENST00000374168,p.V523M|ENST00000530003,p.V507M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010off.1	nonsynonymous SNV	exon16	c.G1519A	p.V507M	EASFVLHTIGKTVEYLHSQGVVHRD	EASFVLHTIGKTMEYLHSQGVVHRD	10.0	3.0	unscreened	-	4180_1:26888131-26888131 G>A_EASFVLHTIGKTMEYLHSQGVVHRD
1:227171317-227171317 G>A	1.0	4180	BREAST	-	-	-	-	ADCK3	uc001hqo.1,p.S103N|uc009xeq.1,p.S330N|uc001hqn.1,p.S382N|uc010pvq.1,p.S103N|ENST00000433743,p.S56N|ENST00000366779,p.S382N|ENST00000366778,p.S330N|ENST00000366777,p.S382N|uc010pvr.1,p.S56N|uc001hqm.1,p.S382N|ENST00000458507,p.S103N|NM_020247,p.S382N|ENST00000366776,p.S307N|ENST00000366775,p.S227N	protein_coding, processed_transcript	uc010pvr.1	nonsynonymous SNV	exon5	c.G167A	p.S56N	SDVNNLMAVLNMSNMLPEGLFPEHL	SDVNNLMAVLNMNNMLPEGLFPEHL	9.0	7.0	-	-	4180_1:227171317-227171317 G>A_SDVNNLMAVLNMNNMLPEGLFPEHL
19:4792859-4792859 G>-	1.0	4180	BREAST	-	-	-	-	FEM1A	ENST00000269856,p.Q331fs|uc002mbf.3,p.Q331fs|NM_018708,p.Q331fs	protein_coding	uc002mbf.3	frameshift deletion	exon1	c.993delG	p.Q331fs	LKHWRRAMELRHQGGEYLPKPEPPQ	LKHWRRAMELRHQGASTCPNRSPHSWSWPMTIPGRSTPPRSWRR	7.0	9.0	unscreened	-	4180_19:4792859-4792859 G>-_LKHWRRAMELRHQGASTCPNRSPHSWSWPMTIPGRSTPPRSWRR
6:43589499-43589499 A>G	1.0	4180	BREAST	-	-	-	-	GTPBP2	ENST00000307126,p.V554A|uc010jyv.3,p.V466A|NM_019096,p.V554A|ENST00000307114,p.V466A|uc003ovs.3,p.V554A|ENST00000496137,p.V65A|NM_001286216,p.V466A	protein_coding, processed_transcript, nonsense_mediated_decay	uc010jyv.3	nonsynonymous SNV	exon12	c.T1397C	p.V466A	HAKDKLRTGEKAVVRFRFLKHPEYL	HAKDKLRTGEKAAVRFRFLKHPEYL	8.0	7.0	unscreened	-	4180_6:43589499-43589499 A>G_HAKDKLRTGEKAAVRFRFLKHPEYL
9:131848522-131848522 C>A	1.0	4180	BREAST	-	-	-	-	DOLPP1	NM_020438,p.P189Q|ENST00000372546,p.P189Q|uc004bxc.3,p.P189Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc004bxc.3	nonsynonymous SNV	exon6	c.C566A	p.P189Q	IAWFIFTQEVLTPLFPRIAAWPVSE	IAWFIFTQEVLTQLFPRIAAWPVSE	7.0	8.0	unscreened	-	4180_9:131848522-131848522 C>A_IAWFIFTQEVLTQLFPRIAAWPVSE
19:16263947-16263947 G>A	1.0	4180	BREAST	-	-	-	-	HSH2D	NM_001291274,p.A47T|ENST00000593154,p.A104T|uc002ndr.3,p.A47T|uc002ndp.4,p.A104T|ENST00000253680,p.A104T|ENST00000588246,p.A104T|NM_032855,p.A104T|ENST00000593031,p.A79T	protein_coding, nonsense_mediated_decay	uc002ndr.3	nonsynonymous SNV	exon4	c.G139A	p.A47T	IPGEKVAHTSLDALVTFHQQKPIEP	IPGEKVAHTSLDTLVTFHQQKPIEP	7.0	8.0	unscreened	-	4180_19:16263947-16263947 G>A_IPGEKVAHTSLDTLVTFHQQKPIEP
8:125384266-125384266 ->G	0.0	4180	BREAST	-	-	-	-	TMEM65	ENST00000297632,p.G45fs|uc010mdl.3,p.G45fs|NM_194291,p.G45fs	protein_coding	uc010mdl.3	frameshift insertion	exon1	c.132dupC	p.G45fs	CCGRGLLALAPPGGLPGGPRRLGTH	CCGRGLLALAPPRRLAGRPQAAGHAPQEGAHGGAEHGAGRARLHLQPALHGEELPAQRAAPLRVYCHCPRKIGSSTTHPRTAEICIHPQCDTFHRVWLFG	8.0	2.0	unscreened	-	4180_8:125384266-125384266 ->G_CCGRGLLALAPPRRLAGRPQAAGHAPQEGAHGGAEHGAGRARLHLQPALHGEELPAQRAAPLRVYCHCPRKIGSSTTHPRTAEICIHPQCDTFHRVWLFG
7:55466145-55466145 C>T	1.0	4180	BREAST	-	-	-	-	LANCL2	NM_018697,p.R118W|ENST00000254770,p.R118W|uc003tqp.3,p.R118W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003tqp.3	nonsynonymous SNV	exon3	c.C352T	p.R118W	WTGIALLYLQLYRVTCDQTYLLRSL	WTGIALLYLQLYWVTCDQTYLLRSL	8.0	8.0	unscreened	-	4180_7:55466145-55466145 C>T_WTGIALLYLQLYWVTCDQTYLLRSL
20:4158003-4158003 G>A	0.0	4180	BREAST	-	-	-	-	SMOX	NM_175841,p.A72T|uc002wkl.2,p.A72T|NM_001270691,p.A72T|NM_175840,p.A72T|ENST00000278795,p.A72T|ENST00000339123,p.A72T|ENST00000305958,p.A72T|uc002wkm.2,p.A72T|NM_175839,p.A72T|uc002wkk.2,p.A72T|uc002wkp.3,p.A72T|ENST00000379460,p.A72T|ENST00000346595,p.A72T|NM_175842,p.A72T|uc002wko.2,p.A72T|uc002wkn.2,p.A72T	protein_coding, processed_transcript	uc002wkp.3	nonsynonymous SNV	exon3	c.G214A	p.A72T	IGGRVQSVKLGHATFELGATWIHGS	IGGRVQSVKLGHTTFELGATWIHGS	9.0	3.0	unscreened	-	4180_20:4158003-4158003 G>A_IGGRVQSVKLGHTTFELGATWIHGS
17:40737179-40737179 G>A	1.0	4180	BREAST	-	-	-	-	FAM134C	uc002iam.1,p.R31C|NM_178126,p.R231C|ENST00000543197,p.R36C|uc010wgq.1,p.R31C|uc010cyk.1,p.R134C|ENST00000585894,p.R134C|ENST00000309428,p.R231C|uc002ial.2,p.R231C	retained_intron, protein_coding, nonsense_mediated_decay	uc010wgq.1	nonsynonymous SNV	exon5	c.C91T	p.R31C	LKPALQRLDFSVRGYMMSKQRERQL	LKPALQRLDFSVCGYMMSKQRERQL	8.0	6.0	unscreened	-	4180_17:40737179-40737179 G>A_LKPALQRLDFSVCGYMMSKQRERQL
18:12836873-12836873 T>C	1.0	4180	BREAST	-	-	-	-	PTPN2	ENST00000327283,p.K60E|NM_080423,p.K60E|NM_080422,p.K60E|NM_001207013,p.K60E|NM_002828,p.K60E|uc002krl.3,p.K60E|uc002krp.3,p.K60E|uc002krm.3,p.K60E|ENST00000592776,p.K60E|uc002krn.3,p.K60E|ENST00000591115,p.K60E|ENST00000309660,p.K60E|ENST00000353319,p.K60E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002krp.3	nonsynonymous SNV	exon3	c.A178G	p.K60E	YRDVSPYDHSRVKLQNAENDYINAS	YRDVSPYDHSRVELQNAENDYINAS	9.0	9.0	-	-	4180_18:12836873-12836873 T>C_YRDVSPYDHSRVELQNAENDYINAS
2:46851326-46851326 A>G	1.0	4180	BREAST	-	-	-	-	CRIPT	NM_014171,p.K89R|ENST00000238892,p.K89R|uc002rve.3,p.K89R	protein_coding, processed_transcript	uc002rve.3	nonsynonymous SNV	exon5	c.A266G	p.K89R	AYKKGICAMCGKKVLDTKNYKQTSV	AYKKGICAMCGKRVLDTKNYKQTSV	7.0	4.0	unscreened	-	4180_2:46851326-46851326 A>G_AYKKGICAMCGKRVLDTKNYKQTSV
6:53372358-53372358 T>A	1.0	4180	BREAST	-	-	-	-	GCLC	ENST00000229416,p.Y335F|uc003pbv.1,p.Y59F|uc021zau.1,p.Y297F|NM_001197115,p.Y297F|uc003pbw.2,p.Y335F|NM_001498,p.Y335F	retained_intron, protein_coding, nonsense_mediated_decay	uc021zau.1	nonsynonymous SNV	exon8	c.A890T	p.Y297F	RISKSRYDSIDSYLSKCGEKYNDID	RISKSRYDSIDSFLSKCGEKYNDID	9.0	8.0	unscreened	-	4180_6:53372358-53372358 T>A_RISKSRYDSIDSFLSKCGEKYNDID
10:70760229-70760229 A>G	1.0	4180	BREAST	-	-	-	-	KIAA1279	NM_015634,p.Q159R|ENST00000361983,p.Q159R|uc001joy.3,p.Q159R	protein_coding, processed_transcript	uc001joy.3	nonsynonymous SNV	exon2	c.A476G	p.Q159R	ILWSEREEIETAQAYLESSEALYNQ	ILWSEREEIETARAYLESSEALYNQ	9.0	6.0	unscreened	-	4180_10:70760229-70760229 A>G_ILWSEREEIETARAYLESSEALYNQ
16:84516221-84516221 G>T	1.0	4180	BREAST	-	-	-	-	TLDC1	uc010vod.2,p.Q325K|ENST00000535580,p.Q325K|NM_020947,p.Q352K|ENST00000343629,p.Q352K|uc002fib.3,p.Q352K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vod.2	nonsynonymous SNV	exon7	c.C973A	p.Q325K	GYNDHYMYLNHGQQTIPNGLGMGGQ	GYNDHYMYLNHGKQTIPNGLGMGGQ	8.0	7.0	unscreened	-	4180_16:84516221-84516221 G>T_GYNDHYMYLNHGKQTIPNGLGMGGQ
6:106763981-106763981 A>G	1.0	4180	BREAST	-	-	-	-	ATG5	ENST00000360666,p.Y35H|uc010kdc.3,p.Y35H|NM_001286111,p.Y35H	protein_coding, processed_transcript	uc010kdc.3	nonsynonymous SNV	exon2	c.T103C	p.Y35H	YQDEITEREAEPYYTDLTSFGPSIG	YQDEITEREAEPHYTDLTSFGPSIG	9.0	6.0	unscreened	-	4180_6:106763981-106763981 A>G_YQDEITEREAEPHYTDLTSFGPSIG
10:103344504-103344504 G>A	1.0	4180	BREAST	-	-	ID=COSM126875;OCCURENCE=1(upper_aerodigestive_tract)	-	POLL	NM_013274,p.A249V|NM_001174084,p.A249V	protein_coding, processed_transcript	NM_013274	nonsynonymous SNV	exon5	c.C746T	p.A249V	DKWVCAQPSSQKATNHNLHITEKLE	DKWVCAQPSSQKVTNHNLHITEKLE	7.0	9.0	unscreened	-	4180_10:103344504-103344504 G>A_DKWVCAQPSSQKVTNHNLHITEKLE
1:53326484-53326484 C>A	1.0	4180	BREAST	-	-	-	-	ZYG11A	ENST00000371528,p.L364I|NM_001004339,p.L364I|uc001cul.2,p.L22I|uc001cuk.2,p.L364I|ENST00000371532,p.L22I	protein_coding	uc001cul.2	nonsynonymous SNV	exon3	c.C64A	p.L22I	RYRNRSCFVKEALHRLFTETFSMEV	RYRNRSCFVKEAIHRLFTETFSMEV	6.0	3.0	unscreened	-	4180_1:53326484-53326484 C>A_RYRNRSCFVKEAIHRLFTETFSMEV
12:10862658-10862658 G>-	0.0	4180	BREAST	-	-	-	-	YBX3	ENST00000228251,p.P210fs|uc001qyt.3,p.P210fs|NM_003651,p.P210fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001qyt.3	frameshift deletion	exon6	c.629delC	p.P210fs	EEGSGSSEGFDPPATDRQFSGARNQ	EEGSGSSEGFDPLPLIGSSLGPGISCAAPSIALSTGSGGSRLTTWDRPLTVAHGSYPIPTEYRLVRLER	10.0	4.0	unscreened	-	4180_12:10862658-10862658 G>-_EEGSGSSEGFDPLPLIGSSLGPGISCAAPSIALSTGSGGSRLTTWDRPLTVAHGSYPIPTEYRLVRLER
20:34810266-34810266 G>A	1.0	4180	BREAST	-	-	ID=COSM172440;OCCURENCE=1(large_intestine)	-	EPB41L1	ENST00000373941,p.V862I|ENST00000202028,p.V761I|uc002xey.3,p.V613I|NM_177996,p.V761I|uc002xev.3,p.V862I|NM_001258329,p.V862I|ENST00000441639,p.V761I|NM_001258330,p.V683I|ENST00000373950,p.V754I|ENST00000338074,p.V863I|uc010gfq.3,p.V961I|NM_001258331,p.V761I|uc002xex.3,p.V683I|uc002xfb.3,p.V863I|uc002xez.4,p.V761I|ENST00000373946,p.V683I|uc002xeu.3,p.V761I|uc002xew.3,p.V754I|NM_012156,p.V863I	protein_coding, processed_transcript	uc010gfq.3	nonsynonymous SNV	exon11	c.G2881A	p.V961I	LQHPDMLVTKAVVYRETDPSPEERD	LQHPDMLVTKAVIYRETDPSPEERD	8.0	8.0	unscreened	-	4180_20:34810266-34810266 G>A_LQHPDMLVTKAVIYRETDPSPEERD
1:27690418-27690418 C>T	1.0	4180	BREAST	-	-	-	-	MAP3K6	ENST00000493901,p.R285H|ENST00000374040,p.R277H|uc009vsw.1,p.R277H|ENST00000357582,p.R285H|NM_001297609,p.R277H|NM_004672,p.R285H|uc001bny.1,p.R285H	retained_intron, protein_coding, processed_transcript	uc009vsw.1	nonsynonymous SNV	exon4	c.G830A	p.R277H	SPDIIMNLLLSYRDVQDYSAIIELV	SPDIIMNLLLSYHDVQDYSAIIELV	9.0	9.0	unscreened	-	4180_1:27690418-27690418 C>T_SPDIIMNLLLSYHDVQDYSAIIELV
19:10429038-10429038 G>-	1.0	4180	BREAST	-	-	-	-	RAVER1	ENST00000293677,p.P636fs|uc002moa.3,p.P636fs|ENST00000586529,p.P37fs|NM_133452,p.P636fs	retained_intron, protein_coding, nonsense_mediated_decay	uc002moa.3	frameshift deletion	exon11	c.1907delC	p.P636fs	GPHGPSRHKMSPPPSGFGERSSGGS	GPHGPSRHKMSPRPVASANGAAVGVAGAPCLTSIQARPLPTSPAACRLASSRATSVRQSALPRWGPEKGSWASAPGLMVTATC	8.0	9.0	unscreened	-	4180_19:10429038-10429038 G>-_GPHGPSRHKMSPRPVASANGAAVGVAGAPCLTSIQARPLPTSPAACRLASSRATSVRQSALPRWGPEKGSWASAPGLMVTATC
6:157505557-157505557 C>T	1.0	4180	BREAST	-	-	-	1	ARID1B	ENST00000319584,p.P642S	retained_intron, protein_coding, processed_transcript	ENST00000319584	nonsynonymous SNV	exon11	c.C1924T	p.P642S	STGDTKKQPKLQPPSPVVQMEPRAC	STGDTKKQPKLQSPSPVVQMEPRAC	7.0	10.0	unscreened	-	4180_6:157505557-157505557 C>T_STGDTKKQPKLQSPSPVVQMEPRAC
16:56857713-56857713 T>C	1.0	4180	BREAST	-	-	-	-	NUP93	ENST00000567641,p.V127A|uc002eka.3,p.V250A|NM_001242795,p.V127A|NM_014669,p.V250A|ENST00000542526,p.V127A|uc002ekb.3,p.V127A|ENST00000564887,p.V127A|uc010vhi.2,p.V127A|NM_001242796,p.V127A|ENST00000569842,p.V250A|ENST00000563858,p.V43A|ENST00000308159,p.V250A	retained_intron, protein_coding, processed_transcript, TEC	uc010vhi.2	nonsynonymous SNV	exon6	c.T380C	p.V127A	ATDALKNRSSVEVRMEFVRQALAYL	ATDALKNRSSVEARMEFVRQALAYL	10.0	10.0	-	-	4180_16:56857713-56857713 T>C_ATDALKNRSSVEARMEFVRQALAYL
17:66426234-66426234 G>T	1.0	4180	BREAST	-	-	-	-	WIPI1	uc010wqo.2,p.L208I|NM_017983,p.L290I|uc010dey.3,p.L290I|ENST00000546360,p.L208I|ENST00000262139,p.L290I|ENST00000591744,p.L58I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wqo.2	nonsynonymous SNV	exon8	c.C622A	p.L208I	YMGKMFMAATNYLPTQVSDMMHQDR	YMGKMFMAATNYIPTQVSDMMHQDR	10.0	1.0	unscreened	-	4180_17:66426234-66426234 G>T_YMGKMFMAATNYIPTQVSDMMHQDR
5:14419963-14419963 G>A	1.0	4180	BREAST	-	-	ID=COSM3393307;OCCURENCE=1(pancreas)	-	TRIO	ENST00000537187,p.R1679Q|ENST00000512070,p.R1620Q|uc003jfh.1,p.R1328Q|ENST00000344204,p.R1679Q|NM_007118,p.R1679Q|uc003jff.3,p.R1679Q|ENST00000513206,p.R1412Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jfh.1	nonsynonymous SNV	exon29	c.G3983A	p.R1328Q	FTACNSNELTIRRGQTVEVLERPHD	FTACNSNELTIRQGQTVEVLERPHD	8.0	8.0	unscreened	-	4180_5:14419963-14419963 G>A_FTACNSNELTIRQGQTVEVLERPHD
1:117150881-117150881 C>T	1.0	4180	BREAST	-	-	-	-	IGSF3	uc001egr.2,p.C302Y|ENST00000318837,p.C302Y|ENST00000369486,p.C302Y|ENST00000369483,p.C302Y|NM_001007237,p.C302Y|NM_001542,p.C302Y|uc031pnr.1,p.C302Y	protein_coding, processed_transcript	uc031pnr.1	nonsynonymous SNV	exon4	c.G905A	p.C302Y	RLHTVGEPVEFRCILEAQNVPDRYF	RLHTVGEPVEFRYILEAQNVPDRYF	8.0	6.0	unscreened	-	4180_1:117150881-117150881 C>T_RLHTVGEPVEFRYILEAQNVPDRYF
16:71957283-71957284 TG>-	1.0	4180	BREAST	-	-	-	-	IST1	ENST00000456820,p.S222fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000456820	frameshift deletion	exon6	c.666_667del	p.S222fs	PPQIPATPPSYESVSPGPKPEASAK	PPQIPATPPSYESKSWTQARSLCKASFQTCR	9.0	6.0	unscreened	-	4180_16:71957283-71957284 TG>-_PPQIPATPPSYESKSWTQARSLCKASFQTCR
21:44283656-44283656 T>-	1.0	4180	BREAST	-	-	-	-	WDR4	ENST00000330317,p.K116fs|uc010gpg.2,p.K116fs|NM_033661,p.K116fs|uc002zci.4,p.K116fs|uc002zck.2,p.K116fs|NM_018669,p.K116fs|ENST00000398208,p.K116fs|NM_001260474,p.K116fs	protein_coding, processed_transcript	uc010gpg.2	frameshift deletion	exon4	c.347delA	p.K116fs	RCTALTFIASEEKVLVADKSGDVYS	RCTALTFIASEERSWWPTSLETSTPFRCWSHTGVAV	7.0	8.0	unscreened	-	4180_21:44283656-44283656 T>-_RCTALTFIASEERSWWPTSLETSTPFRCWSHTGVAV
2:53897791-53897791 T>C	1.0	4180	BREAST	-	-	-	-	ASB3,GPR75-ASB3	ENST00000263634,p.E469G|ENST00000406687,p.E396G|uc002rxi.4,p.E507G|NM_145863,p.E396G|uc002rxg.2,p.E469G|ENST00000394717,p.E396G|ENST00000352846,p.E507G|NM_016115,p.E469G|NM_001201965,p.E396G|NM_001164165,p.E507G|uc021vhl.1,p.E396G|uc002rxh.2,p.E396G|ENST00000406625,p.E504G	retained_intron, processed_transcript, protein_coding	uc021vhl.1	nonsynonymous SNV	exon9	c.A1187G	p.E396G	ATVPSLTHLCRLEIRSSLKSERLRS	ATVPSLTHLCRLGIRSSLKSERLRS	8.0	9.0	unscreened	-	4180_2:53897791-53897791 T>C_ATVPSLTHLCRLGIRSSLKSERLRS
1:39906957-39906957 A>T	0.0	4180	BREAST	-	-	-	-	MACF1	ENST00000289893,p.D4654V|NM_012090,p.D4152V|ENST00000361689,p.D4152V|ENST00000567887,p.D6248V|ENST00000539005,p.D4022V|ENST00000317713,p.D4152V|ENST00000372915,p.D6110V|uc031pme.1,p.D208V|ENST00000545844,p.D4152V|uc021olt.1,p.D4152V|ENST00000564288,p.D6211V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pme.1	nonsynonymous SNV	exon4	c.A623T	p.D208V	NKTWKERLEKLEDAMQAAVQYQDTL	NKTWKERLEKLEVAMQAAVQYQDTL	9.0	4.0	unscreened	-	4180_1:39906957-39906957 A>T_NKTWKERLEKLEVAMQAAVQYQDTL
7:4855993-4855993 C>T	0.0	4180	BREAST	-	-	-	-	RADIL	uc003snj.1,p.R611H|uc011jwc.1,p.R371H|ENST00000399583,p.R611H|uc003sni.1,p.R116H|NM_018059,p.R611H|ENST00000538469,p.R371H	retained_intron, protein_coding, nonsense_mediated_decay	uc011jwc.1	nonsynonymous SNV	exon7	c.G1112A	p.R371H	WSSAPELPEELRRVVSVYQAALDLL	WSSAPELPEELRHVVSVYQAALDLL	6.0	3.0	unscreened	-	4180_7:4855993-4855993 C>T_WSSAPELPEELRHVVSVYQAALDLL
2:208632364-208632364 A>T	1.0	4180	BREAST	-	-	-	-	FZD5	uc002vcj.3,p.I367N|NM_003468,p.I367N|ENST00000295417,p.I367N|uc021vvr.1,p.I367N	protein_coding	uc021vvr.1	nonsynonymous SNV	exon1	c.T1100A	p.I367N	GYAQYFHLAAWLIPSVKSITALALS	GYAQYFHLAAWLNPSVKSITALALS	6.0	3.0	unscreened	-	4180_2:208632364-208632364 A>T_GYAQYFHLAAWLNPSVKSITALALS
5:176734624-176734624 G>A	0.0	4180	BREAST	-	-	-	-	MXD3	NM_031300,p.H196Y|ENST00000439742,p.H196Y|ENST00000513063,p.H196Y|uc003mgb.2,p.H196Y	retained_intron, protein_coding	uc003mgb.2	nonsynonymous SNV	exon6	c.C586T	p.H196Y	AELLRGFVAGQEHSYSHGGGAWL	AELLRGFVAGQEYSYSHGGGAWL	8.0	2.0	unscreened	-	4180_5:176734624-176734624 G>A_AELLRGFVAGQEYSYSHGGGAWL
6:106763981-106763981 A>G	1.0	4180	BREAST	-	-	-	-	ATG5	ENST00000343245,p.Y35H|uc031spi.1,p.Y35H|uc010kdb.3,p.Y35H|uc003prf.3,p.Y35H|NM_001286106,p.Y35H|NM_001286108,p.Y35H|NM_004849,p.Y35H|ENST00000369076,p.Y35H	protein_coding, processed_transcript	uc031spi.1	nonsynonymous SNV	exon2	c.T103C	p.Y35H	YQDEITEREAEPYYLLLPRVSYLTL	YQDEITEREAEPHYLLLPRVSYLTL	9.0	6.0	unscreened	-	4180_6:106763981-106763981 A>G_YQDEITEREAEPHYLLLPRVSYLTL
10:70730039-70730039 G>A	1.0	4180	BREAST	-	-	ID=COSM919845;OCCURENCE=1(large_intestine),1(endometrium)	-	DDX21	NM_004728,p.R440H|uc001jow.2,p.R372H|NM_001256910,p.R372H|ENST00000354185,p.R440H|uc001jov.2,p.R440H	protein_coding	uc001jow.2	nonsynonymous SNV	exon8	c.G1115A	p.R372H	GDVIRVYSGHQGRTIIFCETKKEAQ	GDVIRVYSGHQGHTIIFCETKKEAQ	10.0	5.0	unscreened	-	4180_10:70730039-70730039 G>A_GDVIRVYSGHQGHTIIFCETKKEAQ
15:40289219-40289219 A>G	1.0	4180	BREAST	-	-	-	-	EIF2AK4	ENST00000382727,p.M913V|uc001zkm.1,p.M941V|NM_001013703,p.M941V|uc010bbj.1,p.M642V|uc001zkn.1,p.M41V|ENST00000263791,p.M941V	retained_intron, protein_coding, processed_transcript, TEC	uc010bbj.1	nonsynonymous SNV	exon13	c.A1924G	p.M642V	LGIIFFEMSYHPMVTASERIFVLNQ	LGIIFFEMSYHPVVTASERIFVLNQ	9.0	5.0	unscreened	-	4180_15:40289219-40289219 A>G_LGIIFFEMSYHPVVTASERIFVLNQ
1:91967357-91967357 A>-	0.0	4180	BREAST	-	-	ID=COSM391652;OCCURENCE=10(large_intestine),1(lung)	-	CDC7	NM_001134419,p.L28fs|ENST00000428239,p.L28fs|ENST00000234626,p.L28fs|ENST00000426137,p.L28fs|NM_001134420,p.L28fs|uc009wdc.3,p.L28fs|uc001doe.3,p.L28fs|uc001dof.3,p.L28fs|NM_003503,p.L28fs	protein_coding, processed_transcript	uc009wdc.3	frameshift deletion	exon2	c.84delA	p.L28fs	SPQRDRFQAEGSLKKNEQNFKLAGV	SPQRDRFQAEGSLKKTSRILNLQVLKKILRSFMKLYHSLVMCLRLRTKLEKALSALFIWPQHSYK	7.0	10.0	unscreened	-	4180_1:91967357-91967357 A>-_SPQRDRFQAEGSLKKTSRILNLQVLKKILRSFMKLYHSLVMCLRLRTKLEKALSALFIWPQHSYK
16:15729896-15729896 A>G	0.0	4180	BREAST	-	-	-	-	KIAA0430	uc010uzx.2,p.S149P|ENST00000552553,p.S150P|ENST00000540441,p.S150P|ENST00000602337,p.S150P|NM_001184999,p.S150P|uc010uzv.2,p.S150P|ENST00000548025,p.S150P|ENST00000396368,p.S150P|ENST00000551742,p.S150P|uc002ddq.3,p.S149P|uc002ddr.3,p.S150P|ENST00000549219,p.S150P|uc010uzw.2,p.S150P|NM_001184998,p.S150P|NM_014647,p.S150P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uzx.2	nonsynonymous SNV	exon3	c.T445C	p.S149P	SQSTRTITCQVGSGFAFQSASSLQN	SQSTRTITCQVGPGFAFQSASSLQN	7.0	10.0	unscreened	-	4180_16:15729896-15729896 A>G_SQSTRTITCQVGPGFAFQSASSLQN
1:182845332-182845332 ->T	0.0	4180	BREAST	-	-	-	-	DHX9	uc001gps.3,p.V441fs|uc001gpr.3,p.V655fs|NM_001357,p.V655fs|ENST00000367549,p.V655fs	protein_coding, processed_transcript	uc001gps.3	frameshift insertion	exon18	c.1322dupT	p.V441fs	YIETLNVPGAVLVFLPGWNLIYTMQ	YIETLNVPGAVLVFFAWLESDLYYAEAFGNESTFWKPSVSDSTPAFSDSSRGTAQSV	10.0	1.0	unscreened	-	4180_1:182845332-182845332 ->T_YIETLNVPGAVLVFFAWLESDLYYAEAFGNESTFWKPSVSDSTPAFSDSSRGTAQSV
9:130423456-130423456 A>G	0.0	4180	BREAST	-	-	-	-	STXBP1	ENST00000373302,p.N134S|ENST00000373299,p.N134S|uc004brl.2,p.N134S|NM_001032221,p.N134S|uc004brk.2,p.N134S|NM_003165,p.N134S	retained_intron, protein_coding, processed_transcript	uc004brl.2	nonsynonymous SNV	exon6	c.A401G	p.N134S	RAAKVIKTLTEINIAFLPYESQVYS	RAAKVIKTLTEISIAFLPYESQVYS	6.0	4.0	unscreened	-	4180_9:130423456-130423456 A>G_RAAKVIKTLTEISIAFLPYESQVYS
14:102718303-102718303 T>-	0.0	4180	BREAST	-	-	ID=COSM1368347;OCCURENCE=2(large_intestine)	-	MOK	NM_001272011,p.I75fs|uc010txv.3,p.I75fs|ENST00000524214,p.I75fs|NM_014226,p.I105fs|ENST00000522874,p.I105fs|uc001ylm.4,p.I105fs|ENST00000361847,p.I105fs|ENST00000517537,p.I105fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010txv.3	frameshift deletion	exon4	c.223delA	p.I75fs	IRGRRYPLSEKKIMHYMYQLCKSLD	IRGRRYPLSEKKLCTICTSYVSPWIIFTEMEYFTEM	8.0	9.0	unscreened	-	4180_14:102718303-102718303 T>-_IRGRRYPLSEKKLCTICTSYVSPWIIFTEMEYFTEM
5:886861-886861 G>A	1.0	4180	BREAST	-	-	-	-	BRD9	uc003jbo.3,p.R131C|ENST00000323510,p.R131C|ENST00000489093,p.R131C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jbo.3	nonsynonymous SNV	exon7	c.C391T	p.R131C	KMMSKERLLALKRSMSFMQDMDFSQ	KMMSKERLLALKCSMSFMQDMDFSQ	9.0	9.0	unscreened	-	4180_5:886861-886861 G>A_KMMSKERLLALKCSMSFMQDMDFSQ
17:77758795-77758795 A>G	1.0	4180	BREAST	-	-	-	-	CBX2	NM_005189,p.K518R|ENST00000310942,p.K518R|uc002jxc.3,p.K518R	retained_intron, protein_coding	uc002jxc.3	nonsynonymous SNV	exon5	c.A1553G	p.K518R	TDVTANLITVTVKESPTSVGFFNLR	TDVTANLITVTVRESPTSVGFFNLR	9.0	7.0	unscreened	-	4180_17:77758795-77758795 A>G_TDVTANLITVTVRESPTSVGFFNLR
12:58186781-58186781 T>C	1.0	4180	BREAST	-	-	-	-	TSFM	ENST00000457189,p.S116P|uc001sqi.3,p.S166P|ENST00000454289,p.S166P|NM_001172697,p.S166P|ENST00000350762,p.S126P|uc021qzq.1,p.S166P|ENST00000543727,p.S166P|uc010sse.2,p.S126P|ENST00000548851,p.S166P|NM_005726,p.S166P|ENST00000434359,p.S116P|ENST00000550559,p.S166P	protein_coding, processed_transcript, nonsense_mediated_decay	uc021qzq.1	nonsynonymous SNV	exon5	c.T496C	p.S166P	DQPSAYSKGFLNSSELSGLPAGPDR	DQPSAYSKGFLNPSELSGLPAGPDR	10.0	9.0	-	-	4180_12:58186781-58186781 T>C_DQPSAYSKGFLNPSELSGLPAGPDR
13:49781334-49781334 G>A	1.0	4180	BREAST	-	-	-	-	FNDC3A	uc001vcn.3,p.V1134I|uc001vcq.3,p.V1078I|ENST00000398316,p.V1078I|ENST00000541916,p.V1134I|NM_001079673,p.V1134I|NM_014923,p.V1078I|ENST00000492622,p.V1134I|uc001vcm.3,p.V1134I|NM_001278438,p.V1134I	retained_intron, protein_coding, nonsense_mediated_decay	uc001vcq.3	nonsynonymous SNV	exon24	c.G3232A	p.V1078I	RQCQDSLGHQDLVGPYSTTVLFISQ	RQCQDSLGHQDLIGPYSTTVLFISQ	7.0	9.0	-	-	4180_13:49781334-49781334 G>A_RQCQDSLGHQDLIGPYSTTVLFISQ
16:5145483-5145498 ATCTGATGAGTCTCTT>-	1.0	4180	BREAST	-	-	-	-	FAM86A	ENST00000587133,p.L38fs|NM_001289029,p.L38fs	retained_intron, protein_coding, nonsense_mediated_decay	NM_001289029	frameshift deletion	exon2	c.114_129del	p.L38fs	LRSFPWQSLEAKLRDSSDSELLRDI	LRSFPWQSLEAKFLSCCGIFCTSPREARSHSPRARPSSPTVPQAWSHGTPPSTLQNGPSRTRQSSLTGLS	7.0	7.0	unscreened	-	4180_16:5145483-5145498 ATCTGATGAGTCTCTT>-_LRSFPWQSLEAKFLSCCGIFCTSPREARSHSPRARPSSPTVPQAWSHGTPPSTLQNGPSRTRQSSLTGLS
3:184577846-184577846 A>C	1.0	4180	BREAST	-	-	-	-	VPS8	ENST00000287546,p.N406T|uc021xik.1,p.N406T|ENST00000446204,p.N404T|ENST00000437079,p.N406T|ENST00000436792,p.N404T|NM_001009921,p.N406T|NM_015303,p.N404T|uc003fpb.1,p.N404T|uc010hyd.1,p.N404T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xik.1	nonsynonymous SNV	exon14	c.A1217C	p.N406T	KQKHLHLYYDLINFTWINSRTVVLL	KQKHLHLYYDLITFTWINSRTVVLL	7.0	8.0	unscreened	-	4180_3:184577846-184577846 A>C_KQKHLHLYYDLITFTWINSRTVVLL
9:15199878-15199878 T>C	0.0	4180	BREAST	-	-	-	-	TTC39B	ENST00000297615,p.T200A|NM_001168340,p.T269A|ENST00000512701,p.T269A|ENST00000507993,p.T104A|uc010mie.2,p.T267A|NM_001168341,p.T200A|uc003zlr.2,p.T269A|NM_152574,p.T269A|ENST00000380850,p.T269A|uc010mig.1,p.T172A|uc011lmr.2,p.T200A|uc010mif.2,p.T269A|ENST00000507285,p.T104A|NM_001168342,p.T104A|uc011lmp.2,p.T104A|uc003zlq.2,p.T172A|ENST00000355694,p.T203A|NM_001168339,p.T267A|uc011lmq.2,p.T269A|uc003zls.1,p.T104A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lmr.2	nonsynonymous SNV	exon6	c.A598G	p.T200A	MINFIKGGLKIRTSYQIYKECLSIL	MINFIKGGLKIRASYQIYKECLSIL	8.0	6.0	unscreened	-	4180_9:15199878-15199878 T>C_MINFIKGGLKIRASYQIYKECLSIL
1:45407182-45407182 T>-	1.0	4180	BREAST	-	-	ID=COSM1343022;OCCURENCE=4(large_intestine)	-	EIF2B3	ENST00000372182,p.K150fs	protein_coding, processed_transcript	ENST00000372182	frameshift deletion	exon4	c.450delA	p.K150fs	SIEPVPGQKGKKKADGDSLCCQAGV	SIEPVPGQKGKKKQMETRSVARLECSGTISVHSNLHLPGSSTSPASASRVAGTTCTCHHT	8.0	2.0	unscreened	-	4180_1:45407182-45407182 T>-_SIEPVPGQKGKKKQMETRSVARLECSGTISVHSNLHLPGSSTSPASASRVAGTTCTCHHT
18:46858333-46858333 A>G	1.0	4180	BREAST	-	-	-	-	DYM	ENST00000583225,p.F67L|ENST00000269445,p.F222L|ENST00000581738,p.F67L|ENST00000578396,p.F67L|uc002ldi.1,p.F222L|NM_017653,p.F222L|ENST00000584983,p.F67L|uc002ldj.3,p.F44L|ENST00000583280,p.F67L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ldj.3	nonsynonymous SNV	exon2	c.T130C	p.F44L	YTSKLVKTLLYNFIRQEKPPPPGAH	YTSKLVKTLLYNLIRQEKPPPPGAH	9.0	10.0	unscreened	-	4180_18:46858333-46858333 A>G_YTSKLVKTLLYNLIRQEKPPPPGAH
16:5145483-5145498 ATCTGATGAGTCTCTT>-	1.0	4180	BREAST	-	-	-	-	FAM86A	uc002cyo.2,p.L38fs|ENST00000427587,p.L38fs|NM_201598,p.L38fs|ENST00000458008,p.L38fs|uc002cyp.2,p.L38fs|NM_201400,p.L38fs	retained_intron, protein_coding, nonsense_mediated_decay	uc002cyp.2	frameshift deletion	exon2	c.114_129del	p.L38fs	LRSFPWQSLEAKLRDSSDSELLRDI	LRSFPWQSLEAKFLSCCGIFCTRL	7.0	7.0	unscreened	-	4180_16:5145483-5145498 ATCTGATGAGTCTCTT>-_LRSFPWQSLEAKFLSCCGIFCTRL
3:196674182-196674182 C>T	1.0	4180	BREAST	0.0009	-	-	-	PIGZ	NM_025163,p.R529H|uc003fxh.3,p.R529H|ENST00000412723,p.R529H	retained_intron, protein_coding	uc003fxh.3	nonsynonymous SNV	exon3	c.G1586A	p.R529H	CRLFVVTPGTTRRAVEKCSFPFKNE	CRLFVVTPGTTRHAVEKCSFPFKNE	5.0	7.0	unscreened	-	4180_3:196674182-196674182 C>T_CRLFVVTPGTTRHAVEKCSFPFKNE
19:33604743-33604743 G>A	1.0	4180	BREAST	-	-	-	-	GPATCH1	uc002nug.1,p.E655K|uc002nuh.1,p.E32K|ENST00000170564,p.E655K|NM_018025,p.E655K	retained_intron, protein_coding, nonsense_mediated_decay	uc002nuh.1	nonsynonymous SNV	exon1	c.G94A	p.E32K	DKYSVFNFLTLPETASLPTTQASSE	DKYSVFNFLTLPKTASLPTTQASSE	7.0	4.0	unscreened	-	4180_19:33604743-33604743 G>A_DKYSVFNFLTLPKTASLPTTQASSE
3:145788866-145788866 A>T	1.0	4180	BREAST	-	-	-	-	PLOD2	ENST00000494950,p.I640K|ENST00000282903,p.I695K|NM_000935,p.I674K|uc011bnm.1,p.I640K|uc003evr.1,p.I695K|ENST00000360060,p.I674K|NM_182943,p.I695K|uc003evq.1,p.I355K|ENST00000461497,p.I355K|uc003evs.1,p.I674K	retained_intron, protein_coding, nonsense_mediated_decay	uc011bnm.1	nonsynonymous SNV	exon19	c.T1919A	p.I640K	SLRPHHDASTFTINIALNNVGEDFQ	SLRPHHDASTFTKNIALNNVGEDFQ	9.0	3.0	unscreened	-	4180_3:145788866-145788866 A>T_SLRPHHDASTFTKNIALNNVGEDFQ
4:169305900-169305900 G>A	1.0	4180	BREAST	-	-	-	-	DDX60L	uc003irq.4,p.P1327S|NM_001012967,p.P1327S|uc021xuh.1,p.P1327S|ENST00000260184,p.P1327S|ENST00000511577,p.P1327S	retained_intron, protein_coding, processed_transcript	uc021xuh.1	nonsynonymous SNV	exon29	c.C3979T	p.P1327S	QDLLGNVYFFDIPLPKIKRLLASSV	QDLLGNVYFFDISLPKIKRLLASSV	7.0	9.0	unscreened	-	4180_4:169305900-169305900 G>A_QDLLGNVYFFDISLPKIKRLLASSV
15:40707168-40707168 G>-	1.0	4180	BREAST	-	-	-	-	IVD	NM_001159508,p.G262fs|uc001zls.3,p.G292fs|ENST00000487418,p.G292fs|uc001zlq.2,p.G262fs|ENST00000479013,p.G262fs|NM_002225,p.G292fs|ENST00000491554,p.G88fs|ENST00000249760,p.G289fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zls.3	frameshift deletion	exon8	c.874delG	p.G292fs	MSGLDLERLVLAGGPLGLMQAVLDH	MSGLDLERLVLAGGLLGSCKRSWTTPFPTCT	8.0	8.0	unscreened	-	4180_15:40707168-40707168 G>-_MSGLDLERLVLAGGLLGSCKRSWTTPFPTCT
20:47591316-47591316 G>T	1.0	4180	BREAST	-	-	-	-	ARFGEF2	ENST00000371917,p.R560M|NM_006420,p.R560M|uc002xtx.4,p.R560M	protein_coding, processed_transcript	uc002xtx.4	nonsynonymous SNV	exon13	c.G1679T	p.R560M	ELGMTPLQELSLRKKGLECLVSILK	ELGMTPLQELSLMKKGLECLVSILK	7.0	5.0	unscreened	-	4180_20:47591316-47591316 G>T_ELGMTPLQELSLMKKGLECLVSILK
19:15535645-15535645 C>T	0.0	4180	BREAST	-	-	-	-	WIZ	uc002nba.4,p.R644H|uc002nbb.4,p.R603H|ENST00000545156,p.R774H|ENST00000389282,p.R1460H|NM_021241,p.R603H|ENST00000599910,p.R777H|uc002nbc.3,p.R777H|ENST00000599686,p.R644H|ENST00000263381,p.R603H	retained_intron, protein_coding, processed_transcript	uc002nbc.3	nonsynonymous SNV	exon6	c.G2330A	p.R777H	KVGAYRSYIQGGRPFTKKFRSAGHG	KVGAYRSYIQGGHPFTKKFRSAGHG	7.0	6.0	unscreened	-	4180_19:15535645-15535645 C>T_KVGAYRSYIQGGHPFTKKFRSAGHG
2:20478523-20478523 T>C	1.0	4180	BREAST	-	-	-	-	PUM2	ENST00000338086,p.D593G|uc010yjz.1,p.D532G|NM_015317,p.D593G|ENST00000361078,p.D593G|uc002rdt.1,p.D593G|ENST00000536417,p.D537G|uc002rdu.1,p.D593G|NM_001282752,p.D537G|uc002rds.1,p.D593G|ENST00000403432,p.D593G	protein_coding, processed_transcript, nonsense_mediated_decay	uc010yjz.1	nonsynonymous SNV	exon12	c.A1595G	p.D532G	SATRRESLSTSSDLYKRSSSSLAPI	SATRRESLSTSSGLYKRSSSSLAPI	8.0	2.0	unscreened	-	4180_2:20478523-20478523 T>C_SATRRESLSTSSGLYKRSSSSLAPI
19:4839259-4839259 A>G	1.0	4180	BREAST	-	-	-	-	PLIN3	ENST00000585479,p.L416P|NM_001164194,p.L405P|uc002mbj.2,p.L417P|NM_001164189,p.L416P|uc002mbl.3,p.L416P|NM_005817,p.L417P|uc002mbk.2,p.L405P|ENST00000221957,p.L417P|ENST00000592528,p.L405P	protein_coding	uc002mbl.3	nonsynonymous SNV	exon8	c.T1247C	p.L416P	VEYVAQNTPVTWLVGPFAPGITEKA	VEYVAQNTPVTWPVGPFAPGITEKA	10.0	9.0	-	-	4180_19:4839259-4839259 A>G_VEYVAQNTPVTWPVGPFAPGITEKA
2:152320541-152320541 A>-	1.0	4180	BREAST	-	-	ID=COSM314800;OCCURENCE=4(large_intestine),1(lung),1(stomach)	-	RIF1	NM_001177663,p.K1503fs|NM_001177664,p.K1503fs|uc002txm.3,p.K1503fs|NM_001177665,p.K1503fs|ENST00000444746,p.K1503fs|ENST00000243326,p.K1503fs|ENST00000430328,p.K1503fs|NM_018151,p.K1503fs|ENST00000453091,p.K1503fs|uc002txl.3,p.K1503fs|uc002txo.3,p.K1503fs|uc002txn.3,p.K1503fs|ENST00000428287,p.K1503fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc002txo.3	frameshift deletion	exon29	c.4507delA	p.K1503fs	GETSANAETEQNKKKADPENIKSEG	GETSANAETEQNKKRQTLRTLSLRGMVPRTL	7.0	8.0	unscreened	-	4180_2:152320541-152320541 A>-_GETSANAETEQNKKRQTLRTLSLRGMVPRTL
11:117160389-117160389 C>T	0.0	4180	BREAST	-	-	-	-	BACE1	uc001pqy.3,p.A423T|NM_138973,p.A398T|NM_012104,p.A467T|NM_138972,p.A442T|ENST00000428381,p.A398T|ENST00000313005,p.A467T|uc001pqz.3,p.A467T|NM_138971,p.A423T|uc001pqx.3,p.A398T|ENST00000445823,p.A423T|uc010rxg.2,p.A342T|ENST00000513780,p.A442T|ENST00000392937,p.A367T|ENST00000528053,p.A433T|NM_001207049,p.A342T|uc001pqw.3,p.A442T|ENST00000510630,p.A342T|uc010rxh.2,p.A367T|NM_001207048,p.A367T	retained_intron, protein_coding, processed_transcript	uc010rxh.2	nonsynonymous SNV	exon8	c.G1099A	p.A367T	LMTIAYVMAAICALFMLPLCLMVCQ	LMTIAYVMAAICTLFMLPLCLMVCQ	6.0	5.0	unscreened	-	4180_11:117160389-117160389 C>T_LMTIAYVMAAICTLFMLPLCLMVCQ
10:27448630-27448630 A>G	1.0	4180	BREAST	-	-	-	-	MASTL	ENST00000375946,p.Y136C|NM_032844,p.Y136C|NM_001172303,p.Y136C|uc001itm.3,p.Y136C|ENST00000342386,p.Y136C|NM_001172304,p.Y136C|ENST00000375940,p.Y136C|uc001itl.3,p.Y136C|uc009xkw.2,p.Y136C	protein_coding, processed_transcript	uc009xkw.2	nonsynonymous SNV	exon3	c.A407G	p.Y136C	IYGYFDEEMAVKYISEVALALDYLH	IYGYFDEEMAVKCISEVALALDYLH	9.0	8.0	-	-	4180_10:27448630-27448630 A>G_IYGYFDEEMAVKCISEVALALDYLH
3:128971496-128971496 G>A	0.0	4180	BREAST	-	-	ID=COSM1418799;OCCURENCE=1(large_intestine)	-	COPG1	ENST00000314797,p.E68K|NM_016128,p.E68K|uc003els.3,p.E68K	retained_intron, protein_coding, nonsense_mediated_decay	uc003els.3	nonsynonymous SNV	exon4	c.G202A	p.E68K	NQGEHLGTTEATEAFFAMTKLFQSN	NQGEHLGTTEATKAFFAMTKLFQSN	10.0	2.0	unscreened	-	4180_3:128971496-128971496 G>A_NQGEHLGTTEATKAFFAMTKLFQSN
17:73982308-73982308 C>A	1.0	4180	BREAST	-	-	-	-	TEN1	ENST00000586891,p.P48H	retained_intron, protein_coding	ENST00000586891	nonsynonymous SNV	exon3	c.C143A	p.P48H	PMMLPKPGTYYLPWEVSAGQVPDGS	PMMLPKPGTYYLHWEVSAGQVPDGS	9.0	6.0	unscreened	-	4180_17:73982308-73982308 C>A_PMMLPKPGTYYLHWEVSAGQVPDGS
13:50108335-50108335 C>T	0.0	4180	BREAST	-	-	-	-	RCBTB1	NM_018191,p.A507T|ENST00000378302,p.A507T|uc001vde.1,p.A507T|ENST00000258646,p.A507T	protein_coding, processed_transcript	uc001vde.1	nonsynonymous SNV	exon13	c.G1519A	p.A507T	CINHLTEVTQTAAFWQMDGPLLKEF	CINHLTEVTQTATFWQMDGPLLKEF	6.0	2.0	unscreened	-	4180_13:50108335-50108335 C>T_CINHLTEVTQTATFWQMDGPLLKEF
17:75190919-75190919 C>T	1.0	4180	BREAST	-	-	-	-	SEC14L1	ENST00000443798,p.A212V|uc010wth.2,p.A212V|ENST00000591437,p.A178V|NM_001039573,p.A212V|uc002jtm.3,p.A212V|ENST00000431431,p.A178V|NM_001144001,p.A178V|ENST00000436233,p.A212V|ENST00000413679,p.A212V|NM_003003,p.A212V|ENST00000589827,p.A212V|uc002jto.3,p.A212V|NM_001143998,p.A212V|NM_001204410,p.A212V|uc021udw.1,p.A212V|NM_001143999,p.A212V|ENST00000589202,p.A97V|ENST00000430767,p.A212V|ENST00000392476,p.A212V|uc010wti.2,p.A178V|uc010dhc.3,p.A212V|NM_001204408,p.A212V|ENST00000585618,p.A212V|uc021udv.1,p.A212V|uc021udx.1,p.A212V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021udx.1	nonsynonymous SNV	exon8	c.C635T	p.A212V	QAASMAVVIPEAALKEGLSGDALSS	QAASMAVVIPEAVLKEGLSGDALSS	9.0	9.0	unscreened	-	4180_17:75190919-75190919 C>T_QAASMAVVIPEAVLKEGLSGDALSS
19:10668262-10668262 A>G	1.0	4180	BREAST	-	-	-	-	KRI1	ENST00000361821,p.V530A|uc002moy.1,p.V534A|uc002mox.1,p.V530A|NM_023008,p.V534A|uc002mow.1,p.V153A|ENST00000312962,p.V534A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002moy.1	nonsynonymous SNV	exon16	c.T1601C	p.V534A	IDDLPCRFKYRTVVPCDFGLSTEEI	IDDLPCRFKYRTAVPCDFGLSTEEI	9.0	9.0	unscreened	-	4180_19:10668262-10668262 A>G_IDDLPCRFKYRTAVPCDFGLSTEEI
21:34925262-34925262 C>T	1.0	4180	BREAST	-	-	-	-	SON	uc002ysg.3,p.S233L|ENST00000356577,p.S1242L|NM_001291411,p.S1242L|uc002ysb.1,p.S1242L|uc002yse.1,p.S1242L|NM_032195,p.S1242L|uc002ysd.3,p.S233L|ENST00000290239,p.S1242L|NM_138927,p.S1242L|ENST00000455528,p.S1242L|ENST00000381679,p.S1242L|uc021win.1,p.S888L|ENST00000300278,p.S1242L|uc002ysc.3,p.S1242L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021win.1	nonsynonymous SNV	exon1	c.C2663T	p.S888L	YSVSASDPSVLVSEAAVTVPEPPPE	YSVSASDPSVLVLEAAVTVPEPPPE	10.0	10.0	-	-	4180_21:34925262-34925262 C>T_YSVSASDPSVLVLEAAVTVPEPPPE
9:137300040-137300040 C>-	1.0	4180	BREAST	-	-	ID=COSM1460911;OCCURENCE=1(large_intestine)	-	RXRA	uc004cfb.2,p.P109fs|NM_002957,p.P109fs|ENST00000481739,p.P109fs|NM_001291920,p.P82fs	protein_coding, processed_transcript	uc004cfb.2	frameshift deletion	exon3	c.325delC	p.P109fs	PMNPVSSSEDIKPPLGLNGVLKVPA	PMNPVSSSEDIKPPWASMASSRSPPTPQETWLPSPSTSAPSAGTAPQASTMECTAARGARASSSGRCART	8.0	10.0	unscreened	-	4180_9:137300040-137300040 C>-_PMNPVSSSEDIKPPWASMASSRSPPTPQETWLPSPSTSAPSAGTAPQASTMECTAARGARASSSGRCART
12:54812882-54812882 G>A	1.0	4180	BREAST	-	-	ID=COSM1362794;OCCURENCE=1(large_intestine)	-	ITGA5	uc001sga.3,p.P34L|NM_002205,p.P34L|ENST00000435631,p.P34L|ENST00000293379,p.P34L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sga.3	nonsynonymous SNV	exon1	c.C101T	p.P34L	RPPLLPLLLLLLPPPPRVGGFNLDA	RPPLLPLLLLLLLPPPRVGGFNLDA	10.0	10.0	unscreened	-	4180_12:54812882-54812882 G>A_RPPLLPLLLLLLLPPPRVGGFNLDA
17:73554656-73554656 G>-	1.0	4180	BREAST	-	-	-	-	LLGL2	NM_004524,p.G107fs|ENST00000375227,p.G107fs|ENST00000577200,p.G107fs|uc010dgf.1,p.G107fs|NM_001031803,p.G107fs|uc010dgg.2,p.G107fs|uc002joj.3,p.G96fs|ENST00000578363,p.G107fs|ENST00000167462,p.G107fs|ENST00000392550,p.G107fs|uc002jog.1,p.G107fs|uc002joi.3,p.G107fs|NM_001015002,p.G107fs|uc002joh.3,p.G107fs	retained_intron, protein_coding, nonsense_mediated_decay	uc010dgg.2	frameshift deletion	exon5	c.319delG	p.G107fs	NSLHLWSLKVKGGASELQEDESFTL	NSLHLWSLKVKGGHRSCRRMRASHCVDPQGLPPVPHRSPWSCHIPPASCSTWAPRVATCLWCSCQLFVRWRTGPSARTRCCSGCQRRPATGVCSRWWRHCRSTLETPTRS	10.0	8.0	unscreened	-	4180_17:73554656-73554656 G>-_NSLHLWSLKVKGGHRSCRRMRASHCVDPQGLPPVPHRSPWSCHIPPASCSTWAPRVATCLWCSCQLFVRWRTGPSARTRCCSGCQRRPATGVCSRWWRHCRSTLETPTRS
3:128976313-128976313 T>C	0.0	4180	BREAST	-	-	-	-	COPG1	uc003els.3,p.Y194H|ENST00000314797,p.Y194H|uc010htb.3,p.Y100H|NM_016128,p.Y194H	retained_intron, protein_coding, nonsense_mediated_decay	uc010htb.3	nonsynonymous SNV	exon8	c.T298C	p.Y100H	QEAASSDNIMVQYHALGLLYHVRKN	QEAASSDNIMVQHHALGLLYHVRKN	10.0	3.0	unscreened	-	4180_3:128976313-128976313 T>C_QEAASSDNIMVQHHALGLLYHVRKN
19:39330958-39330958 ->G	0.0	4180	BREAST	-	-	ID=COSM1393463,COSM1393464;OCCURENCE=3(large_intestine)	-	HNRNPL	uc010xun.2,p.H45fs	retained_intron, protein_coding, nonsense_mediated_decay	uc010xun.2	frameshift insertion	exon5	c.133dupC	p.H45fs	TAITMMRATGPPHLTTKGEGWVHQW	TAITMMRATGPPPPHYEGRRMGPPVGGHRRGPSRYGPQYGHPPPPPPPPEYGPHADSPVLMVYGLDQSKM	10.0	8.0	unscreened	-	4180_19:39330958-39330958 ->G_TAITMMRATGPPPPHYEGRRMGPPVGGHRRGPSRYGPQYGHPPPPPPPPEYGPHADSPVLMVYGLDQSKM
16:16228259-16228259 T>C	1.0	4180	BREAST	-	-	-	-	ABCC1	ENST00000345148,p.L1340S|ENST00000346370,p.L1284S|ENST00000351154,p.L1281S|uc002del.4,p.L1234S|ENST00000399408,p.L1350S|ENST00000399410,p.L1340S|NM_004996,p.L1340S|ENST00000349029,p.L1225S|uc010bvi.3,p.L1340S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bvi.3	nonsynonymous SNV	exon28	c.T4019C	p.L1340S	RTGAGKSSLTLGLFRINESAEGEII	RTGAGKSSLTLGSFRINESAEGEII	7.0	9.0	unscreened	-	4180_16:16228259-16228259 T>C_RTGAGKSSLTLGSFRINESAEGEII
14:77493648-77493650 GCG>-	1.0	4180	BREAST	-	-	ID=COSM1283728;OCCURENCE=1(eye),1(autonomic_ganglia)	-	IRF2BPL	uc001xsy.4,p.162_163del|NM_024496,p.162_163del|ENST00000238647,p.162_163del	protein_coding	uc001xsy.4	nonframeshift deletion	exon1	c.486_488del	p.162_163del	GLSAAAAAAAAAAAAVEQRSRFEYP	GLSAAAAAAAAAAAVEQRSRFEYPP	10.0	3.0	-	-	4180_14:77493648-77493650 GCG>-_GLSAAAAAAAAAAAVEQRSRFEYPP
2:74782459-74782459 C>-	0.0	4180	BREAST	-	-	-	-	DOK1	ENST00000340004,p.T80fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000340004	frameshift deletion	exon2	c.239delC	p.T80fs	AECVSVAPVTVETPPEPGATAFRLD	AECVSVAPVTVETPLSPAPLPSAWTLLSARTCWRPTRRPVQPGCRRCAETPFRKAAGLWRLPITHLSFLPWRCWRTPCTALPGKVMFSFEAGRRCPSGPGTFTFQTAQGN	7.0	1.0	unscreened	-	4180_2:74782459-74782459 C>-_AECVSVAPVTVETPLSPAPLPSAWTLLSARTCWRPTRRPVQPGCRRCAETPFRKAAGLWRLPITHLSFLPWRCWRTPCTALPGKVMFSFEAGRRCPSGPGTFTFQTAQGN
7:127344935-127344935 C>T	1.0	4180	BREAST	-	-	-	1	SND1	uc003vmi.3,p.R295C|NM_014390,p.R295C|ENST00000354725,p.R295C	retained_intron, protein_coding, processed_transcript	uc003vmi.3	nonsynonymous SNV	exon8	c.C883T	p.R295C	NITELLLKEGFARCVDWSIAVYTRG	NITELLLKEGFACCVDWSIAVYTRG	10.0	5.0	-	-	4180_7:127344935-127344935 C>T_NITELLLKEGFACCVDWSIAVYTRG
22:24621214-24621214 T>C	0.0	4180	BREAST	-	-	-	-	GGT5	NM_001099782,p.Q469R|NM_001099781,p.Q502R|ENST00000418439,p.Q425R|uc002zzo.4,p.Q501R|uc002zzr.4,p.Q469R|uc011ajm.2,p.Q425R|NM_004121,p.Q501R|ENST00000327365,p.Q501R|ENST00000263112,p.Q469R|ENST00000398292,p.Q502R|uc002zzp.4,p.Q502R|uc002zzq.4,p.Q469R	protein_coding	uc011ajm.2	nonsynonymous SNV	exon8	c.A1274G	p.Q425R	GAGGELIISAVAQAIMSKLWLGFDL	GAGGELIISAVARAIMSKLWLGFDL	8.0	4.0	unscreened	-	4180_22:24621214-24621214 T>C_GAGGELIISAVARAIMSKLWLGFDL
8:12042939-12042939 C>T	1.0	4180	BREAST	-	-	ID=COSM3833936,COSM3833935;OCCURENCE=1(breast)	-	FAM86B1	uc010lse.3,p.V246M|ENST00000448228,p.V246M|ENST00000533852,p.V280M|uc003wvi.4,p.V52M|uc010lsf.3,p.V89M|uc003wvh.4,p.V89M|NM_001083537,p.V246M|uc011kxq.2,p.V52M|ENST00000321602,p.V52M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kxq.2	nonsynonymous SNV	exon3	c.G154A	p.V52M	ACREHKRAPEVYVAFTVRNPETCQL	ACREHKRAPEVYMAFTVRNPETCQL	7.0	5.0	unscreened	-	4180_8:12042939-12042939 C>T_ACREHKRAPEVYMAFTVRNPETCQL
4:103645086-103645086 T>A	1.0	4180	BREAST	-	-	-	-	MANBA	ENST00000226578,p.D104V|ENST00000505239,p.D104V|uc003hwg.3,p.D104V|uc011ces.2,p.D104V|NM_005908,p.D104V	retained_intron, protein_coding, nonsense_mediated_decay	uc011ces.2	nonsynonymous SNV	exon3	c.A311T	p.D104V	KWQKVNLILEGVDTVSKILFNEVTI	KWQKVNLILEGVVTVSKILFNEVTI	8.0	8.0	unscreened	-	4180_4:103645086-103645086 T>A_KWQKVNLILEGVVTVSKILFNEVTI
1:44057063-44057063 ->T	1.0	4180	BREAST	-	-	-	-	PTPRF	NM_130440,p.R457fs|uc001cjs.3,p.R457fs|uc009vwt.3,p.R28fs|ENST00000372413,p.R457fs|uc001cjv.3,p.R28fs|ENST00000359947,p.R457fs|uc001cjr.3,p.R457fs|uc001cju.3,p.R28fs|ENST00000438120,p.R457fs|NM_002840,p.R457fs|ENST00000372414,p.R457fs	protein_coding, processed_transcript	uc009vwt.3	frameshift insertion	exon1	c.83_84insT	p.R28fs	RGYRVYYTPDSRRPPNAWHKHNTDA	RGYRVYYTPDSRRPPERLAQAQHRRGAPHDRGQPAAWHHLQPARACLHRRGRWPSQPHHPGQDAAGSACPARGLPGRGGVGHQDPALVAAAPSGADHHV	10.0	4.0	unscreened	-	4180_1:44057063-44057063 ->T_RGYRVYYTPDSRRPPERLAQAQHRRGAPHDRGQPAAWHHLQPARACLHRRGRWPSQPHHPGQDAAGSACPARGLPGRGGVGHQDPALVAAAPSGADHHV
12:46245162-46245162 C>-	0.0	4180	BREAST	-	-	-	1	ARID2	uc001ros.1,p.P1086fs|NM_152641,p.P1086fs|uc001ror.3,p.P1086fs|uc009zkh.1,p.P713fs|uc009zkg.1,p.P542fs|ENST00000444670,p.P696fs|ENST00000334344,p.P1086fs|ENST00000422737,p.P937fs|uc001rou.1,p.P420fs	retained_intron, protein_coding, processed_transcript	uc009zkh.1	frameshift deletion	exon7	c.2137delC	p.P713fs	GGKLILPAPQIPPPNNARAPSPQVV	GGKLILPAPQIPPLIMQELLALRWSIRWPVTKPQVLECRGKLQLSSYWLGSKMFSWSQVQCHPQGEYKLCPFRTYKYCQVH	7.0	2.0	unscreened	-	4180_12:46245162-46245162 C>-_GGKLILPAPQIPPLIMQELLALRWSIRWPVTKPQVLECRGKLQLSSYWLGSKMFSWSQVQCHPQGEYKLCPFRTYKYCQVH
5:132161487-132161487 A>G	0.0	4180	BREAST	-	-	-	-	SHROOM1	ENST00000378676,p.Y116H|NM_133456,p.Y116H|NM_001172700,p.Y116H|ENST00000440118,p.Y116H|ENST00000378679,p.Y116H|ENST00000319854,p.Y116H|uc003kxx.3,p.Y116H|uc003kxy.2,p.Y116H	protein_coding, processed_transcript	uc003kxy.2	nonsynonymous SNV	exon1	c.T346C	p.Y116H	PGPLNRQATPLLYALAAEAEAAAQA	PGPLNRQATPLLHALAAEAEAAAQA	8.0	1.0	unscreened	-	4180_5:132161487-132161487 A>G_PGPLNRQATPLLHALAAEAEAAAQA
15:89422239-89422239 A>G	1.0	4180	BREAST	-	-	-	-	HAPLN3	uc002bnc.3,p.L252P|NM_178232,p.L252P|ENST00000562889,p.L314P|ENST00000359595,p.L252P|uc002bnd.3,p.L314P	retained_intron, protein_coding, nonsense_mediated_decay	uc002bnd.3	nonsynonymous SNV	exon5	c.T941C	p.L314P	PGVRSYGPRHRRLHRYDVFCFATAL	PGVRSYGPRHRRPHRYDVFCFATAL	9.0	2.0	unscreened	-	4180_15:89422239-89422239 A>G_PGVRSYGPRHRRPHRYDVFCFATAL
16:5145501-5145501 C>G	1.0	4180	BREAST	-	-	-	-	FAM86A	NM_201598,p.K37N|ENST00000587200,p.K37N|ENST00000587133,p.K37N|uc002cyo.2,p.K37N|ENST00000458008,p.K37N|ENST00000585436,p.K37N|NM_001289029,p.K37N|ENST00000427587,p.K37N|NM_201400,p.K37N|uc002cyp.2,p.K37N	retained_intron, protein_coding, nonsense_mediated_decay	uc002cyp.2	nonsynonymous SNV	exon2	c.G111C	p.K37N	TLRSFPWQSLEAKLRDSSDSELLRD	TLRSFPWQSLEANLRDSSDSELLRD	7.0	6.0	unscreened	-	4180_16:5145501-5145501 C>G_TLRSFPWQSLEANLRDSSDSELLRD
3:186505004-186505004 A>G	1.0	4180	BREAST	-	-	-	1	EIF4A2	uc003fqv.3,p.D192G|ENST00000425053,p.D287G|uc011bsb.2,p.D160G|ENST00000356531,p.D192G|ENST00000440191,p.D288G|ENST00000323963,p.D287G|uc003fqs.3,p.D287G|uc003fqw.3,p.D192G|uc003fqu.3,p.D288G|NM_001967,p.D287G	retained_intron, protein_coding, nonsense_mediated_decay	uc011bsb.2	nonsynonymous SNV	exon4	c.A479G	p.D160G	QAVIFLNTRRKVDWLTEKMHARDFT	QAVIFLNTRRKVGWLTEKMHARDFT	10.0	5.0	-	-	4180_3:186505004-186505004 A>G_QAVIFLNTRRKVGWLTEKMHARDFT
19:16798998-16798998 C>T	1.0	4180	BREAST	-	-	-	-	TMEM38A	NM_024074,p.A239V|uc002nes.3,p.A239V|ENST00000187762,p.A239V	retained_intron, protein_coding	uc002nes.3	nonsynonymous SNV	exon6	c.C716T	p.A239V	LTATHSHSSPFDALEGYICPVLFGS	LTATHSHSSPFDVLEGYICPVLFGS	5.0	8.0	unscreened	-	4180_19:16798998-16798998 C>T_LTATHSHSSPFDVLEGYICPVLFGS
1:226180181-226180181 T>A	1.0	4180	BREAST	-	-	-	-	SDE2	NM_152608,p.E146D|ENST00000272091,p.E146D|uc001hpu.4,p.E146D	protein_coding	uc001hpu.4	nonsynonymous SNV	exon4	c.A438T	p.E146D	QKRLERLQRKLVEPKHCFTSPDYQQ	QKRLERLQRKLVDPKHCFTSPDYQQ	7.0	8.0	unscreened	-	4180_1:226180181-226180181 T>A_QKRLERLQRKLVDPKHCFTSPDYQQ
X:153633837-153633837 T>G	0.0	4180	BREAST	-	-	-	-	DNASE1L1	uc004fku.1,p.N25H|ENST00000309585,p.N25H|uc004fkt.1,p.N25H|ENST00000393638,p.N25H|ENST00000412184,p.N25H|ENST00000369808,p.N25H|ENST00000014935,p.N25H|ENST00000447892,p.N25H|uc004fks.1,p.N25H|uc004fkv.1,p.N25H|NM_001009934,p.N25H|NM_001009933,p.N25H|NM_006730,p.N25H|ENST00000369809,p.N25H|ENST00000451865,p.N25H|ENST00000369807,p.N25H|uc004fkw.1,p.N25H|NM_001009932,p.N25H|ENST00000424626,p.N25H	retained_intron, protein_coding, processed_transcript	uc004fkw.1	nonsynonymous SNV	exon2	c.A73C	p.N25H	ANGAQAFRICAFNAQRLTLAKVARE	ANGAQAFRICAFHAQRLTLAKVARE	8.0	1.0	unscreened	-	4180_X:153633837-153633837 T>G_ANGAQAFRICAFHAQRLTLAKVARE
3:12942841-12942841 G>-	0.0	4180	BREAST	-	-	-	-	IQSEC1	ENST00000429247,p.P996fs	protein_coding, processed_transcript	ENST00000429247	frameshift deletion	exon14	c.2987delC	p.P996fs	AHLPSAPALATPPPTGGPASLAALC	AHLPSAPALATPHPPVVLPHLQHSVAGHHLGPPEGLPQAAMHGHHTQYCHMQNPPPYHHHHHHHPPQHIQHAHQYHHGPHGGHPAYGAHAHGHPPLPSAHVGHTVHHHGQPPAPPPPTSSKAKPSGISTIV	6.0	6.0	unscreened	-	4180_3:12942841-12942841 G>-_AHLPSAPALATPHPPVVLPHLQHSVAGHHLGPPEGLPQAAMHGHHTQYCHMQNPPPYHHHHHHHPPQHIQHAHQYHHGPHGGHPAYGAHAHGHPPLPSAHVGHTVHHHGQPPAPPPPTSSKAKPSGISTIV
20:35675533-35675533 G>A	1.0	4180	BREAST	-	-	-	-	RBL1	NM_183404,p.L510F|ENST00000373664,p.L510F|uc002xgi.3,p.L510F|uc002xgj.1,p.L510F|NM_002895,p.L510F|ENST00000344359,p.L510F	protein_coding, nonsense_mediated_decay	uc002xgj.1	nonsynonymous SNV	exon12	c.C1528T	p.L510F	HRSLMACCLEIVLFAYSSPRTFPWI	HRSLMACCLEIVFFAYSSPRTFPWI	7.0	3.0	unscreened	-	4180_20:35675533-35675533 G>A_HRSLMACCLEIVFFAYSSPRTFPWI
22:24943931-24943931 A>G	0.0	4180	BREAST	-	-	-	-	GUCD1	uc003aak.4,p.V136A|ENST00000435822,p.V80A|ENST00000407973,p.V80A|ENST00000398245,p.V80A|ENST00000407471,p.V80A|ENST00000404664,p.V136A|NM_031444,p.V80A|ENST00000447813,p.V80A|NM_001284251,p.V136A|uc003aai.4,p.V80A|uc003aah.2,p.V80A|uc003aaj.4,p.V80A|uc003aal.2,p.V136A|NM_001284254,p.V80A|NM_001284257,p.V80A|NM_001284252,p.V136A|NM_001284256,p.V80A|NM_001284253,p.V136A|ENST00000402766,p.V80A|NM_001284255,p.V80A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003aal.2	nonsynonymous SNV	exon3	c.T407C	p.V136A	TIDLAYLMHHFGVRHRFCTQTLGVD	TIDLAYLMHHFGARHRFCTQTLGVD	10.0	1.0	unscreened	-	4180_22:24943931-24943931 A>G_TIDLAYLMHHFGARHRFCTQTLGVD
9:136918528-136918528 ->G	1.0	4180	BREAST	-	-	ID=COSM1460899;OCCURENCE=2(large_intestine)	1	BRD3	ENST00000371834,p.P24fs|ENST00000371842,p.P24fs|uc004cew.3,p.P24fs|uc004cex.2,p.P24fs|ENST00000357885,p.P24fs|ENST00000303407,p.P24fs|NM_007371,p.P24fs	retained_intron, protein_coding, processed_transcript	uc004cex.2	frameshift insertion	exon2	c.71dupC	p.P24fs	IPATPGPVNPPPPEVSNPSKPGRKT	IPATPGPVNPPPPGGLQPQQARPQDQPAAVHAECGGEDALETPVRLALLPARGRNQIEPAGLS	8.0	7.0	unscreened	-	4180_9:136918528-136918528 ->G_IPATPGPVNPPPPGGLQPQQARPQDQPAAVHAECGGEDALETPVRLALLPARGRNQIEPAGLS
15:44085836-44085836 C>T	1.0	4180	BREAST	-	-	-	-	SERF2	NM_001199875,p.A60V|ENST00000409960,p.A60V|uc010bdq.3,p.A60V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bdq.3	nonsynonymous SNV	exon3	c.C179T	p.A60V	ELSPIHFHLILCALHPPASCPFCPL	ELSPIHFHLILCVLHPPASCPFCPL	10.0	6.0	unscreened	-	4180_15:44085836-44085836 C>T_ELSPIHFHLILCVLHPPASCPFCPL
8:125597329-125597329 T>-	0.0	4180	BREAST	-	-	ID=COSM1454738;OCCURENCE=1(stomach),1(large_intestine),1(liver)	-	MTSS1	ENST00000325064,p.K153fs|NM_001282971,p.K153fs|uc003yrl.2,p.K153fs	retained_intron, protein_coding, processed_transcript	uc003yrl.2	frameshift deletion	exon6	c.459delA	p.K153fs	SSDTLKLQKKAKKVDTLGRGDIQPQ	SSDTLKLQKKAKKWTLLGEVISSLSWTVLSKMSMISISYWKKQKSRLSGRL	6.0	4.0	unscreened	-	4180_8:125597329-125597329 T>-_SSDTLKLQKKAKKWTLLGEVISSLSWTVLSKMSMISISYWKKQKSRLSGRL
10:106058908-106058908 C>A	0.0	4180	BREAST	-	-	-	-	GSTO2	uc021pxu.1,p.L138M|uc001kyc.3,p.L172M|NM_183239,p.L200M|uc001kyb.3,p.L200M|uc010qqx.2,p.L166M|NM_001191015,p.L138M|ENST00000338595,p.L200M|NM_001191014,p.L172M|ENST00000450629,p.L166M|ENST00000369707,p.L172M|NM_001191013,p.L166M	protein_coding, processed_transcript	uc021pxu.1	nonsynonymous SNV	exon4	c.C412A	p.L138M	YGILDCVSHTPALRLWISAMKWDPT	YGILDCVSHTPAMRLWISAMKWDPT	6.0	10.0	unscreened	-	4180_10:106058908-106058908 C>A_YGILDCVSHTPAMRLWISAMKWDPT
8:125597329-125597329 T>-	0.0	4180	BREAST	-	-	ID=COSM1454738;OCCURENCE=1(stomach),1(large_intestine),1(liver)	-	MTSS1	NM_014751,p.K153fs|ENST00000518547,p.K153fs|uc003yrj.2,p.K153fs|uc003yrk.2,p.K153fs|ENST00000378017,p.K153fs|NM_001282974,p.K153fs	retained_intron, protein_coding, processed_transcript	uc003yrk.2	frameshift deletion	exon6	c.459delA	p.K153fs	SSDTLKLQKKAKKGRGDIQPQLDSA	SSDTLKLQKKAKKGEVISSLSWTVLSKMSMISISYWKKQKSRLSGRL	6.0	4.0	unscreened	-	4180_8:125597329-125597329 T>-_SSDTLKLQKKAKKGEVISSLSWTVLSKMSMISISYWKKQKSRLSGRL
9:15185351-15185351 T>A	1.0	4180	BREAST	-	-	-	-	TTC39B	uc011lmq.2,p.K501M|ENST00000512701,p.K514M|ENST00000297615,p.K445M|NM_152574,p.K514M|NM_001168342,p.K349M|ENST00000355694,p.K448M|uc011lmp.2,p.K349M|uc011lmr.2,p.K445M|NM_001168341,p.K445M|ENST00000507993,p.K349M|ENST00000380850,p.K501M|uc003zlr.2,p.K514M|NM_001168339,p.K512M|uc010mie.2,p.K512M|uc003zlq.2,p.K417M|uc003zlp.2,p.K31M|ENST00000507285,p.K349M|NM_001168340,p.K501M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lmr.2	nonsynonymous SNV	exon14	c.A1334T	p.K445M	KQRIAGKSIPTEKFAVRKARRYSAS	KQRIAGKSIPTEMFAVRKARRYSAS	8.0	3.0	unscreened	-	4180_9:15185351-15185351 T>A_KQRIAGKSIPTEMFAVRKARRYSAS
2:97026335-97026335 A>C	1.0	4180	BREAST	-	-	-	-	NCAPH	uc010yum.1,p.I468L|uc002svz.1,p.I492L|NM_015341,p.I492L|uc010fhv.1,p.I481L|NM_001281712,p.I356L|ENST00000455200,p.I481L|ENST00000240423,p.I492L|NM_001281711,p.I468L|ENST00000435975,p.I481L|NM_001281710,p.I481L|ENST00000427946,p.I356L|uc010yun.1,p.I356L	retained_intron, protein_coding	uc010yun.1	nonsynonymous SNV	exon11	c.A1066C	p.I356L	FDVYFRKTKAATILTKSTLENQNWR	FDVYFRKTKAATLLTKSTLENQNWR	9.0	9.0	-	-	4180_2:97026335-97026335 A>C_FDVYFRKTKAATLLTKSTLENQNWR
17:62081057-62081057 C>T	0.0	4180	BREAST	-	-	-	-	ICAM2	ENST00000579687,p.R199H|ENST00000578892,p.R175H|ENST00000578379,p.R98H|NM_001099786,p.R199H|ENST00000579788,p.R199H|ENST00000449662,p.R199H|ENST00000412356,p.R199H|NM_001099788,p.R199H|NM_000873,p.R199H|NM_001099789,p.R199H|ENST00000578313,p.R199H|uc002jdw.4,p.R199H|ENST00000583366,p.R199H|ENST00000418105,p.R199H|uc002jdx.4,p.R199H|uc002jdv.4,p.R199H|NM_001099787,p.R199H|uc002jdu.4,p.R199H|uc010ded.3,p.R199H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ded.3	nonsynonymous SNV	exon5	c.G596A	p.R199H	NFSCLAVLDLMSRGGNIFHKHSAPK	NFSCLAVLDLMSHGGNIFHKHSAPK	8.0	7.0	unscreened	-	4180_17:62081057-62081057 C>T_NFSCLAVLDLMSHGGNIFHKHSAPK
2:203922058-203922058 A>-	1.0	4180	BREAST	-	-	ID=COSM1404625;OCCURENCE=9(large_intestine)	-	NBEAL1	uc002uzt.3,p.K133fs|NM_001114132,p.K133fs|uc010zid.1,p.K82fs|ENST00000449802,p.K133fs|uc002uzq.3,p.K133fs	retained_intron, protein_coding, processed_transcript	uc010zid.1	frameshift deletion	exon6	c.244delA	p.K82fs	TMTTLYIQQLKSKKKEKEMADQTCI	TMTTLYIQQLKSKKKRRKWQIRHVLKNL	8.0	9.0	unscreened	-	4180_2:203922058-203922058 A>-_TMTTLYIQQLKSKKKRRKWQIRHVLKNL
4:84379544-84379544 A>G	1.0	4180	BREAST	-	-	-	-	MRPS18C	uc003hor.4,p.I66V|NM_001297769,p.I66V|NM_016067,p.I66V|ENST00000295491,p.I66V|ENST00000505719,p.I62V	retained_intron, protein_coding, processed_transcript	uc003hor.4	nonsynonymous SNV	exon3	c.A196G	p.I66V	MENPYKEPLKKCILCGKHVDYKNVQ	MENPYKEPLKKCVLCGKHVDYKNVQ	9.0	5.0	unscreened	-	4180_4:84379544-84379544 A>G_MENPYKEPLKKCVLCGKHVDYKNVQ
9:74340605-74340605 T>G	1.0	4180	BREAST	-	-	-	-	TMEM2	ENST00000377066,p.L627F|uc011lsa.1,p.L690F|uc010mos.2,p.L627F|NM_001135820,p.L627F|ENST00000377044,p.L690F|NM_013390,p.L690F	retained_intron, protein_coding, nonsense_mediated_decay	uc011lsa.1	nonsynonymous SNV	exon11	c.A2070C	p.L690F	AAAGSQDAGIWYLFHKEPTGESSGL	AAAGSQDAGIWYFFHKEPTGESSGL	8.0	10.0	-	-	4180_9:74340605-74340605 T>G_AAAGSQDAGIWYFFHKEPTGESSGL
18:56620981-56620981 T>C	1.0	4180	BREAST	-	-	-	-	ZNF532	uc010xeg.2,p.F1034L|ENST00000336078,p.F1034L|NM_018181,p.F1034L|uc002lhs.3,p.F1032L|uc002lho.3,p.F1034L|uc002lhr.3,p.F1032L|uc002lhp.3,p.F1032L|ENST00000591230,p.F1034L|uc010xeh.2,p.F126L|ENST00000589288,p.F1034L|ENST00000591083,p.F1034L|ENST00000591808,p.F1034L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xeh.2	nonsynonymous SNV	exon2	c.T376C	p.F126L	SPGWTCWECDCLFMQRDVYISHVRK	SPGWTCWECDCLLMQRDVYISHVRK	7.0	9.0	unscreened	-	4180_18:56620981-56620981 T>C_SPGWTCWECDCLLMQRDVYISHVRK
19:42083666-42083666 A>C	0.0	4180	BREAST	-	-	-	-	CEACAM21	NM_001098506,p.E60A|uc002org.4,p.E60A|ENST00000401445,p.E60A|NM_033543,p.E60A|ENST00000187608,p.E60A|uc002ore.4,p.E60A|ENST00000457737,p.E60A	protein_coding, processed_transcript, nonsense_mediated_decay	uc002org.4	nonsynonymous SNV	exon2	c.A179C	p.E60A	GENVHLSVVYLPENLYSYGWYKGKT	GENVHLSVVYLPANLYSYGWYKGKT	6.0	4.0	unscreened	-	4180_19:42083666-42083666 A>C_GENVHLSVVYLPANLYSYGWYKGKT
1:110170400-110170400 T>A	0.0	4180	BREAST	-	-	-	-	AMPD2	uc001dyb.2,p.S292T|NM_001257360,p.S373T|ENST00000528667,p.S373T|NM_203404,p.S254T|ENST00000342115,p.S292T|uc009wfh.2,p.S373T|uc010ovs.2,p.S255T|NM_139156,p.S292T|ENST00000256578,p.S373T|uc001dyd.1,p.S254T|NM_001257361,p.S255T|NM_004037,p.S373T|ENST00000393688,p.S254T|uc001dyc.2,p.S373T|ENST00000528454,p.S255T|ENST00000358729,p.S298T|uc010ovr.1,p.S298T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ovs.2	nonsynonymous SNV	exon9	c.T763A	p.S255T	VLMALIINGPIKSFCYRRLQYLSSK	VLMALIINGPIKTFCYRRLQYLSSK	8.0	2.0	unscreened	-	4180_1:110170400-110170400 T>A_VLMALIINGPIKTFCYRRLQYLSSK
6:56483677-56483677 ->T	0.0	4180	BREAST	-	-	-	-	DST	uc003pdc.4,p.V1719fs|NM_001723,p.V1719fs|ENST00000370765,p.V1719fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pdc.4	frameshift insertion	exon23	c.5154dupA	p.V1719fs	AQVQELNNRLKKVQDELHLKTIEEQ	AQVQELNNRLKKSTRRITLKDHRGADDPQKDGSVSGRIW	7.0	1.0	unscreened	-	4180_6:56483677-56483677 ->T_AQVQELNNRLKKSTRRITLKDHRGADDPQKDGSVSGRIW
12:59282626-59282626 A>C	1.0	4180	BREAST	-	-	-	1	LRIG3	uc001sqr.4,p.W260G|ENST00000320743,p.W260G|ENST00000433272,p.W260G|NM_153377,p.W260G|NM_001136051,p.W200G|ENST00000379141,p.W200G|uc009zqh.3,p.W200G	retained_intron, protein_coding, nonsense_mediated_decay	uc009zqh.3	nonsynonymous SNV	exon6	c.T598G	p.W200G	RNGVTKLMDGAFWGLSNMEILQLDH	RNGVTKLMDGAFGGLSNMEILQLDH	7.0	10.0	unscreened	-	4180_12:59282626-59282626 A>C_RNGVTKLMDGAFGGLSNMEILQLDH
20:47865008-47865008 C>T	1.0	4180	BREAST	-	-	-	-	ZNFX1	NM_021035,p.C1518Y|uc002xui.3,p.C1518Y|ENST00000371752,p.C1518Y|ENST00000396105,p.C1518Y	protein_coding, processed_transcript	uc002xui.3	nonsynonymous SNV	exon14	c.G4553A	p.C1518Y	LCSPCVEPCVWRCQHYQCTKLCSEP	LCSPCVEPCVWRYQHYQCTKLCSEP	8.0	6.0	unscreened	-	4180_20:47865008-47865008 C>T_LCSPCVEPCVWRYQHYQCTKLCSEP
19:41239202-41239202 G>A	1.0	4180	BREAST	-	-	ID=COSM3226171;OCCURENCE=1(large_intestine)	-	ITPKC	NM_025194,p.R536H|uc002oot.3,p.R536H|ENST00000263370,p.R536H	protein_coding, nonsense_mediated_decay	uc002oot.3	nonsynonymous SNV	exon4	c.G1607A	p.R536H	PEEHAQGAVTKPRYMQWRETMSSTS	PEEHAQGAVTKPHYMQWRETMSSTS	9.0	7.0	-	-	4180_19:41239202-41239202 G>A_PEEHAQGAVTKPHYMQWRETMSSTS
1:166827381-166827381 A>G	0.0	4180	BREAST	-	-	-	-	TADA1	uc001gdw.3,p.M277T|uc001gdv.3,p.M135T|ENST00000367874,p.M277T|NM_053053,p.M277T	protein_coding, processed_transcript	uc001gdw.3	nonsynonymous SNV	exon7	c.T830C	p.M277T	GDTLPASLPPVNMYDLFEALQVHRE	GDTLPASLPPVNTYDLFEALQVHRE	8.0	4.0	unscreened	-	4180_1:166827381-166827381 A>G_GDTLPASLPPVNTYDLFEALQVHRE
10:115457285-115457285 G>-	0.0	4180	BREAST	-	-	-	-	CASP7	uc001lao.4,p.Q44fs|ENST00000369321,p.Q44fs|NM_033338,p.Q44fs	protein_coding, processed_transcript	uc001lao.4	frameshift deletion	exon3	c.132delG	p.Q44fs	TQMADDQGCIEEQGVEDSANEDSVD	TQMADDQGCIEEQGLRIQQMKIQWMLSQTGPRLYRPSSVRRRKMSPCDPSRPPGTECLHISTT	8.0	3.0	unscreened	-	4180_10:115457285-115457285 G>-_TQMADDQGCIEEQGLRIQQMKIQWMLSQTGPRLYRPSSVRRRKMSPCDPSRPPGTECLHISTT
1:43898836-43898836 C>T	0.0	4180	BREAST	-	-	-	-	SZT2	ENST00000562955,p.R1870C|ENST00000372442,p.R1028C|uc001cjk.3,p.R1870C|NM_015284,p.R1870C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001cjk.3	nonsynonymous SNV	exon39	c.C5608T	p.R1870C	PDFWLIVRVLQDRVEVYAHARSLIR	PDFWLIVRVLQDCVEVYAHARSLIR	6.0	1.0	unscreened	-	4180_1:43898836-43898836 C>T_PDFWLIVRVLQDCVEVYAHARSLIR
14:31355032-31355032 T>C	1.0	4180	BREAST	-	-	-	-	COCH	ENST00000396618,p.Y331H|ENST00000460581,p.Y219H|ENST00000475087,p.Y331H|NM_004086,p.Y331H|NM_001135058,p.Y331H|uc001wqt.1,p.Y182H|uc001wqp.2,p.Y331H|ENST00000382493,p.Y182H|uc001wqq.4,p.Y331H|ENST00000216361,p.Y331H|uc001wqr.2,p.Y331H	retained_intron, protein_coding, nonsense_mediated_decay	uc001wqt.1	nonsynonymous SNV	exon6	c.T544C	p.Y182H	DKAVCRNNGFFSYHMPNWFGTTKYV	DKAVCRNNGFFSHHMPNWFGTTKYV	7.0	9.0	unscreened	-	4180_14:31355032-31355032 T>C_DKAVCRNNGFFSHHMPNWFGTTKYV
1:180945776-180945776 C>T	1.0	4180	BREAST	-	-	-	-	STX6	uc021pfr.1,p.R233H|uc010pnr.2,p.R132H|NM_005819,p.R233H|ENST00000258301,p.R233H|NM_001286210,p.R132H|ENST00000542060,p.R132H	protein_coding, processed_transcript	uc021pfr.1	nonsynonymous SNV	exon8	c.G698A	p.R233H	KLAKVSHMTSDRRQWCAIAILFAVL	KLAKVSHMTSDRHQWCAIAILFAVL	8.0	8.0	unscreened	-	4180_1:180945776-180945776 C>T_KLAKVSHMTSDRHQWCAIAILFAVL
3:50099450-50099450 A>-	1.0	4180	BREAST	-	-	ID=COSM1424103;OCCURENCE=2(large_intestine)	-	RBM6	ENST00000438912,p.E80fs|ENST00000266022,p.E832fs|ENST00000422955,p.E310fs|uc010hlc.2,p.E351fs|uc011bdi.2,p.E174fs|uc003cyd.3,p.E310fs|NM_005777,p.E832fs|uc003cyc.3,p.E832fs|uc003cye.3,p.E310fs|NM_001167582,p.E310fs|ENST00000539992,p.E174fs|ENST00000442092,p.E310fs|ENST00000443081,p.E700fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bdi.2	frameshift deletion	exon10	c.521delA	p.E174fs	QDPGLPEEEEIKEKKPTSQGKSSSK	QDPGLPEEEEIKEKNPPVKESQVARRKCLKEMARRKKTEE	9.0	7.0	unscreened	-	4180_3:50099450-50099450 A>-_QDPGLPEEEEIKEKNPPVKESQVARRKCLKEMARRKKTEE
2:74782459-74782459 C>-	0.0	4180	BREAST	-	-	-	-	DOK1	NM_001381,p.T80fs|uc010yrz.2,p.T69fs|uc002sms.3,p.T80fs|ENST00000233668,p.T80fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yrz.2	frameshift deletion	exon2	c.206delC	p.T69fs	AECVSVAPVTVETPPEPGATAFRLD	AECVSVAPVTVETPLSPAPLPSAWTLLSARTCWRPTRRPVQPGCRRCAETPFRKAAGLWRLPITHLSFLPWRCWRTPCTALPGKDPNSG	7.0	1.0	unscreened	-	4180_2:74782459-74782459 C>-_AECVSVAPVTVETPLSPAPLPSAWTLLSARTCWRPTRRPVQPGCRRCAETPFRKAAGLWRLPITHLSFLPWRCWRTPCTALPGKDPNSG
1:54337071-54337071 T>C	1.0	4180	BREAST	-	-	-	-	YIPF1	ENST00000072644,p.Y152C|uc001cvu.3,p.Y152C|ENST00000412288,p.Y152C|NM_018982,p.Y152C|ENST00000464950,p.Y152C|ENST00000539954,p.Y177C	protein_coding, processed_transcript, nonsense_mediated_decay	uc001cvu.3	nonsynonymous SNV	exon7	c.A455G	p.Y152C	LSNFLIHLGEKTYHYVPEFRKVSIA	LSNFLIHLGEKTCHYVPEFRKVSIA	10.0	7.0	unscreened	-	4180_1:54337071-54337071 T>C_LSNFLIHLGEKTCHYVPEFRKVSIA
3:120315310-120315310 A>G	1.0	4180	BREAST	-	-	-	-	NDUFB4	ENST00000492739,p.E35G|NM_004547,p.E35G|NM_001168331,p.E35G|ENST00000184266,p.E35G|ENST00000485064,p.E35G|uc003edt.3,p.E35G|ENST00000461682,p.E35G|uc003edu.3,p.E35G|ENST00000491335,p.E35G	retained_intron, protein_coding, nonsense_mediated_decay	uc003edu.3	nonsynonymous SNV	exon1	c.A104G	p.E35G	YNISPETRRAQAERLAIRAQLKREY	YNISPETRRAQAGRLAIRAQLKREY	10.0	10.0	unscreened	-	4180_3:120315310-120315310 A>G_YNISPETRRAQAGRLAIRAQLKREY
19:58489779-58489779 T>C	1.0	4180	BREAST	-	-	-	-	ZNF606	uc002qqw.3,p.M757V|uc010yhp.2,p.M667V|ENST00000536132,p.M667V|NM_025027,p.M757V|ENST00000341164,p.M757V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yhp.2	nonsynonymous SNV	exon6	c.A1999G	p.M667V	FCKNSSLIIHQRMHSGEKRFICSEC	FCKNSSLIIHQRVHSGEKRFICSEC	6.0	10.0	unscreened	-	4180_19:58489779-58489779 T>C_FCKNSSLIIHQRVHSGEKRFICSEC
12:8689788-8689788 T>C	0.0	4180	BREAST	-	-	-	-	CLEC4E	uc001quo.1,p.I99V|NM_014358,p.I99V|ENST00000299663,p.I99V	retained_intron, protein_coding, nonsense_mediated_decay	uc001quo.1	nonsynonymous SNV	exon4	c.A295G	p.I99V	FQSSCYFFSTDTISWALSLKNCSAM	FQSSCYFFSTDTVSWALSLKNCSAM	9.0	4.0	unscreened	-	4180_12:8689788-8689788 T>C_FQSSCYFFSTDTVSWALSLKNCSAM
4:140393916-140393916 C>A	1.0	4180	BREAST	-	-	-	-	RAB33B	ENST00000305626,p.A109D|NM_031296,p.A109D|uc003ihv.3,p.A109D	protein_coding, processed_transcript	uc003ihv.3	nonsynonymous SNV	exon2	c.C326A	p.A109D	KSMVQHYYRNVHAVVFVYDMTNMAS	KSMVQHYYRNVHDVVFVYDMTNMAS	6.0	10.0	unscreened	-	4180_4:140393916-140393916 C>A_KSMVQHYYRNVHDVVFVYDMTNMAS
1:63090949-63090949 A>G	0.0	4180	BREAST	-	-	-	-	DOCK7	NM_001272002,p.V469A|NM_001272000,p.V469A|uc001dap.4,p.V469A|NM_001272001,p.V469A|uc001dao.4,p.V469A|uc001dan.4,p.V469A|ENST00000251157,p.V469A|uc009wah.2,p.V469A|ENST00000404627,p.V469A|ENST00000340370,p.V469A|NM_001271999,p.V469A|NM_033407,p.V469A|uc001daq.4,p.V469A	protein_coding, processed_transcript	uc009wah.2	nonsynonymous SNV	exon12	c.T1406C	p.V469A	CNLTSFRPATLTVTNFFKQEGDRLS	CNLTSFRPATLTATNFFKQEGDRLS	9.0	4.0	unscreened	-	4180_1:63090949-63090949 A>G_CNLTSFRPATLTATNFFKQEGDRLS
7:99697274-99697274 G>A	1.0	4180	BREAST	-	-	ID=COSM1488836;OCCURENCE=1(breast)	-	MCM7	NM_005916,p.R72C|uc003usw.1,p.R72C	-	uc003usw.1	nonsynonymous SNV	exon3	c.C214T	p.R72C	PELVDSICENARRYAKLFADAVQEL	PELVDSICENARCYAKLFADAVQEL	10.0	9.0	-	-	4180_7:99697274-99697274 G>A_PELVDSICENARCYAKLFADAVQEL
3:51456139-51456139 G>T	1.0	4180	BREAST	-	-	-	-	VPRBP	ENST00000423656,p.P714H|uc003dbf.1,p.P419H|ENST00000335891,p.P694H	protein_coding	uc003dbf.1	nonsynonymous SNV	exon2	c.C1256A	p.P419H	YNCHNSAITHLEPSRDGSLLLTSAT	YNCHNSAITHLEHSRDGSLLLTSAT	8.0	8.0	unscreened	-	4180_3:51456139-51456139 G>T_YNCHNSAITHLEHSRDGSLLLTSAT
2:175213713-175213713 T>-	0.0	4180	BREAST	-	-	ID=COSM1401358;OCCURENCE=3(large_intestine)	-	CIR1	ENST00000342016,p.I289fs|uc002uin.3,p.I163fs|uc002uim.3,p.I289fs|NM_004882,p.I289fs	retained_intron, protein_coding, nonsense_mediated_decay	uc002uin.3	frameshift deletion	exon11	c.487delA	p.I163fs	SSESESNNKEKKIQRKKRKKNKCSG	SSESESNNKEKKYKGRKERKTSVQGITTVILKRRTSLRRESFMKNFLAVTITGKKPRKSPGS	9.0	6.0	unscreened	-	4180_2:175213713-175213713 T>-_SSESESNNKEKKYKGRKERKTSVQGITTVILKRRTSLRRESFMKNFLAVTITGKKPRKSPGS
17:59465992-59465992 A>-	0.0	4180	BREAST	-	-	-	-	BCAS3	ENST00000589222,p.G891fs|uc002iyw.4,p.G887fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002iyw.4	frameshift deletion	exon25	c.2661delA	p.G887fs	RHVAVKCFGKKKGKKKQCQQPSVRE	RHVAVKCFGKKKGKKNNANSPASVSNPTVTKHAFGMEEELQREGSIETLS	8.0	3.0	unscreened	-	4180_17:59465992-59465992 A>-_RHVAVKCFGKKKGKKNNANSPASVSNPTVTKHAFGMEEELQREGSIETLS
9:138376914-138376914 ->C	1.0	4180	BREAST	-	-	-	-	PPP1R26	uc022bpi.1,p.C186fs|ENST00000605660,p.C186fs|ENST00000605286,p.C186fs|ENST00000356818,p.C186fs|ENST00000604351,p.C186fs|NM_014811,p.C186fs|ENST00000401470,p.C186fs|uc004cfr.1,p.C186fs	protein_coding	uc022bpi.1	frameshift insertion	exon1	c.559dupC	p.C186fs	PEPAHGSAPTALCPPKLVPGSGGGP	PEPAHGSAPTALCPPKTCTWIRWWPRQPGGIQQGPGLRLPGQCEQR	7.0	9.0	unscreened	-	4180_9:138376914-138376914 ->C_PEPAHGSAPTALCPPKTCTWIRWWPRQPGGIQQGPGLRLPGQCEQR
6:114292040-114292040 T>-	1.0	4180	BREAST	-	-	-	-	HDAC2	ENST00000398283,p.K105fs	retained_intron, protein_coding	ENST00000398283	frameshift deletion	exon1	c.315delA	p.K105fs	EPMAYSQGGGKKKVCYYYDGDIGNY	EPMAYSQGGGKKKSATTTTVILEIIIMDRVIP	10.0	10.0	unscreened	-	4180_6:114292040-114292040 T>-_EPMAYSQGGGKKKSATTTTVILEIIIMDRVIP
7:74563649-74563649 T>C	1.0	4180	BREAST	-	-	-	-	GTF2IRD2,GTF2IRD2B	NM_173537,p.Y466H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	NM_173537	nonsynonymous SNV	exon16	c.T1396C	p.Y466H	MSVSKEYNLRRHYQTNHSKHYDQYM	MSVSKEYNLRRHHQTNHSKHYDQYM	7.0	8.0	unscreened	-	4180_7:74563649-74563649 T>C_MSVSKEYNLRRHHQTNHSKHYDQYM
17:17158174-17158174 A>G	1.0	4180	BREAST	-	-	-	-	COPS3	ENST00000439936,p.M263T|NM_001199125,p.M321T|uc010vwv.2,p.M321T|ENST00000268717,p.M341T|ENST00000539941,p.M321T|uc010vww.2,p.M211T|NM_003653,p.M341T|uc002grd.3,p.M341T	retained_intron, protein_coding, nonsense_mediated_decay	uc010vww.2	nonsynonymous SNV	exon9	c.T632C	p.M211T	SGPQEAEKYVLHMIEDGEIFASINQ	SGPQEAEKYVLHTIEDGEIFASINQ	9.0	8.0	unscreened	-	4180_17:17158174-17158174 A>G_SGPQEAEKYVLHTIEDGEIFASINQ
12:64825428-64825428 A>-	0.0	4180	BREAST	-	-	-	-	XPOT	ENST00000332707,p.Q696fs|NM_007235,p.Q696fs|uc001ssb.3,p.Q696fs	retained_intron, protein_coding	uc001ssb.3	frameshift deletion	exon18	c.2087delA	p.Q696fs	LQTFLPALSCPLQKDILRSGVRTFL	LQTFLPALSCPLQRIFSEVESVLSFIE	9.0	9.0	unscreened	-	4180_12:64825428-64825428 A>-_LQTFLPALSCPLQRIFSEVESVLSFIE
1:6662312-6662312 C>G	1.0	4180	BREAST	-	-	-	-	KLHL21	ENST00000377663,p.G189A|NM_014851,p.G189A|uc001anz.1,p.G189A|ENST00000377658,p.G189A|uc001aoa.3,p.G189A	protein_coding	uc001aoa.3	nonsynonymous SNV	exon1	c.G566C	p.G189A	PLARLLRYLRDDGLCVPKEEAAYQL	PLARLLRYLRDDALCVPKEEAAYQL	8.0	10.0	unscreened	-	4180_1:6662312-6662312 C>G_PLARLLRYLRDDALCVPKEEAAYQL
7:74563649-74563649 T>C	1.0	4180	BREAST	-	-	-	-	GTF2IRD2,GTF2IRD2B	uc003ubt.3,p.Y466H|ENST00000418185,p.Y13H|NM_001003795,p.Y466H|uc003ubu.3,p.Y296H|ENST00000312575,p.Y466H|uc010lcd.3,p.Y219H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lcd.3	nonsynonymous SNV	exon15	c.T655C	p.Y219H	MSVSKEYNLRRHYQTNHSKHYDQYT	MSVSKEYNLRRHHQTNHSKHYDQYT	7.0	8.0	unscreened	-	4180_7:74563649-74563649 T>C_MSVSKEYNLRRHHQTNHSKHYDQYT
15:76225228-76225228 T>C	1.0	4180	BREAST	-	-	-	-	FBXO22	uc002bbl.3,p.Y229H|uc002bbk.3,p.Y333H|ENST00000564220,p.Y30H|ENST00000308275,p.Y333H|ENST00000540507,p.Y229H|NM_147188,p.Y333H	protein_coding, processed_transcript, nonsense_mediated_decay	uc002bbl.3	nonsynonymous SNV	exon6	c.T685C	p.Y229H	GFMFACVGRGFQYYRAKGNVEADAF	GFMFACVGRGFQHYRAKGNVEADAF	10.0	2.0	unscreened	-	4180_15:76225228-76225228 T>C_GFMFACVGRGFQHYRAKGNVEADAF
4:57220269-57220269 A>-	0.0	4180	BREAST	-	-	ID=COSM1192729;OCCURENCE=1(central_nervous_system),1(large_intestine)	-	AASDH	uc003hbo.3,p.L340fs|NM_001286669,p.L287fs|NM_181806,p.L440fs|NM_001286671,p.L440fs|ENST00000502617,p.L440fs|NM_001286672,p.L440fs|uc003hbn.3,p.L440fs|ENST00000602986,p.L287fs|uc003hbp.3,p.L440fs|ENST00000513376,p.L340fs|ENST00000205214,p.L440fs|NM_001286668,p.L340fs|uc011caa.2,p.L287fs|uc010ihc.3,p.L440fs|ENST00000451613,p.L440fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011caa.2	frameshift deletion	exon7	c.860delT	p.L287fs	DFVTVKDGEIFFLGRKDSQIKRHGK	DFVTVKDGEIFFWDEKTVRSNVMANVLTLNLCNRLLKSFSKWSLVQLHGIIRKN	7.0	6.0	unscreened	-	4180_4:57220269-57220269 A>-_DFVTVKDGEIFFWDEKTVRSNVMANVLTLNLCNRLLKSFSKWSLVQLHGIIRKN
1:39800875-39800875 A>T	0.0	4180	BREAST	-	-	-	-	MACF1	uc031pmd.1,p.N1312I|ENST00000567887,p.N2909I|ENST00000564288,p.N2872I|ENST00000372915,p.N2877I|ENST00000289893,p.N1312I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pmd.1	nonsynonymous SNV	exon1	c.A3935T	p.N1312I	DAKEFISIINPHNLKGKSLGQVSLT	DAKEFISIINPHILKGKSLGQVSLT	9.0	9.0	unscreened	-	4180_1:39800875-39800875 A>T_DAKEFISIINPHILKGKSLGQVSLT
1:40536183-40536183 A>G	1.0	4180	BREAST	-	-	-	-	CAP1	ENST00000340450,p.Q399R|uc001cey.4,p.Q400R|NM_001105530,p.Q400R|ENST00000372805,p.Q400R|uc001cez.4,p.Q400R|NM_006367,p.Q400R|uc010oje.2,p.Q317R|ENST00000372792,p.Q400R|uc001cfa.4,p.Q400R|ENST00000372798,p.Q399R|ENST00000372802,p.Q399R|uc009vvz.3,p.Q400R|ENST00000372797,p.Q400R	protein_coding, processed_transcript	uc010oje.2	nonsynonymous SNV	exon10	c.A950G	p.Q317R	IVEIINSKDVKVQVMGKVPTISINK	IVEIINSKDVKVRVMGKVPTISINK	10.0	8.0	CD8	-	4180_1:40536183-40536183 A>G_IVEIINSKDVKVRVMGKVPTISINK
6:32918449-32918449 A>-	0.0	4180	BREAST	-	-	-	-	HLA-DMA	ENST00000456800,p.S104fs|NM_006120,p.S74fs|uc003ocm.2,p.S74fs|uc011dqm.1,p.S74fs|ENST00000395303,p.S74fs|ENST00000422832,p.S41fs|ENST00000374843,p.S74fs	retained_intron, protein_coding, processed_transcript	uc011dqm.1	frameshift deletion	exon2	c.220delT	p.S74fs	AYDEDQLFFFDFSQNTRVPRLPEFA	AYDEDQLFFFDFPRTLGCLACPNLLTGLRNREMLLPFYLTKSSASG	9.0	4.0	unscreened	-	4180_6:32918449-32918449 A>-_AYDEDQLFFFDFPRTLGCLACPNLLTGLRNREMLLPFYLTKSSASG
2:216981466-216981466 T>C	1.0	4180	BREAST	-	-	-	-	XRCC5	uc002vfy.3,p.Y74H|ENST00000392132,p.Y74H|ENST00000417391,p.Y61H|ENST00000392133,p.Y74H|NM_021141,p.Y74H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002vfy.3	nonsynonymous SNV	exon3	c.T220C	p.Y74H	DGTDNPLSGGDQYQNITVHRHLMLP	DGTDNPLSGGDQHQNITVHRHLMLP	10.0	8.0	-	-	4180_2:216981466-216981466 T>C_DGTDNPLSGGDQHQNITVHRHLMLP
2:65217183-65217183 G>A	1.0	4180	BREAST	-	-	-	-	SLC1A4	NM_003038,p.A136T|uc010yqa.2,p.A136T|ENST00000234256,p.A136T	retained_intron, protein_coding, processed_transcript	uc010yqa.2	nonsynonymous SNV	exon1	c.G406A	p.A136T	TTLSASALAVALAFIIKPGSGAQTL	TTLSASALAVALTFIIKPGSGAQTL	6.0	10.0	unscreened	-	4180_2:65217183-65217183 G>A_TTLSASALAVALTFIIKPGSGAQTL
7:134222405-134222405 G>A	1.0	4180	BREAST	-	-	ID=COSM1548675;OCCURENCE=1(lung)	-	AKR1B10	NM_020299,p.A245T|ENST00000359579,p.A245T|uc003vrr.3,p.A245T	protein_coding, processed_transcript	uc003vrr.3	nonsynonymous SNV	exon7	c.G733A	p.A245T	KIKEIAAKHKKTAAQVLIRFHIQRN	KIKEIAAKHKKTTAQVLIRFHIQRN	8.0	10.0	unscreened	-	4180_7:134222405-134222405 G>A_KIKEIAAKHKKTTAQVLIRFHIQRN
22:39448602-39448602 A>G	0.0	4180	BREAST	-	-	-	-	APOBEC3F	NM_145298,p.N342D|uc003aww.3,p.N342D|ENST00000308521,p.N342D	retained_intron, protein_coding, processed_transcript	uc003aww.3	nonsynonymous SNV	exon7	c.A1024G	p.N342D	IMGYKDFKYCWENFVYNDDEPFKPW	IMGYKDFKYCWEDFVYNDDEPFKPW	8.0	5.0	unscreened	-	4180_22:39448602-39448602 A>G_IMGYKDFKYCWEDFVYNDDEPFKPW
16:28967594-28967594 C>-	0.0	4180	BREAST	-	-	ID=COSM1377215;OCCURENCE=2(large_intestine)	-	NFATC2IP	NM_032815,p.T261fs|uc002dru.3,p.T261fs|ENST00000320805,p.T261fs	retained_intron, protein_coding, processed_transcript	uc002dru.3	frameshift deletion	exon5	c.782delC	p.T261fs	EVVLVEGPTLPETPRLFPLKIRCRA	EVVLVEGPTLPETPDSSHSKSVAGLTWSDCPSGCRSPCRVWWTTWPPTLGCPQAGSFCFLERQSYHLLPLPGP	8.0	5.0	unscreened	-	4180_16:28967594-28967594 C>-_EVVLVEGPTLPETPDSSHSKSVAGLTWSDCPSGCRSPCRVWWTTWPPTLGCPQAGSFCFLERQSYHLLPLPGP
1:33745933-33745933 C>-	1.0	4180	BREAST	-	-	ID=COSM1341901;OCCURENCE=1(large_intestine)	-	ZNF362	NM_152493,p.G186fs|ENST00000539719,p.G186fs|uc001bxc.1,p.G186fs|ENST00000373428,p.G186fs|ENST00000483388,p.G173fs	protein_coding, processed_transcript	uc001bxc.1	frameshift deletion	exon5	c.558delC	p.G186fs	DSIKTIQGHGLLGPPKSERGRKKIK	DSIKTIQGHGLLGPPSPNAAAKRSRRRTRGVRLSL	9.0	6.0	unscreened	-	4180_1:33745933-33745933 C>-_DSIKTIQGHGLLGPPSPNAAAKRSRRRTRGVRLSL
8:103238208-103238208 A>G	1.0	4180	BREAST	-	-	-	-	RRM2B	NM_001172477,p.Y159H|uc003ykn.3,p.Y87H|uc010mbv.2,p.Y35H|NM_015713,p.Y87H|ENST00000395912,p.Y35H|ENST00000251810,p.Y87H|uc022azl.1,p.Y159H|NM_001172478,p.Y35H	retained_intron, protein_coding, nonsense_mediated_decay	uc022azl.1	nonsynonymous SNV	exon3	c.T475C	p.Y159H	LPHWNKLKADEKYFISHILAFFAAS	LPHWNKLKADEKHFISHILAFFAAS	7.0	7.0	unscreened	-	4180_8:103238208-103238208 A>G_LPHWNKLKADEKHFISHILAFFAAS
19:44057634-44057634 G>A	1.0	4180	BREAST	-	-	-	-	XRCC1	uc010xwp.1,p.R143C|ENST00000543982,p.R143C|ENST00000262887,p.R174C|NM_006297,p.R174C|uc002owt.2,p.R174C|ENST00000594107,p.R137C|ENST00000598165,p.R181C	retained_intron, protein_coding, nonsense_mediated_decay	uc010xwp.1	nonsynonymous SNV	exon5	c.C427T	p.R143C	SQKVTVTKLGQFRVKEEDESANSLR	SQKVTVTKLGQFCVKEEDESANSLR	9.0	7.0	unscreened	-	4180_19:44057634-44057634 G>A_SQKVTVTKLGQFCVKEEDESANSLR
21:30339206-30339206 T>-	0.0	4180	BREAST	-	-	ID=COSM111380;OCCURENCE=4(upper_aerodigestive_tract),5(large_intestine),1(ovary)	-	LTN1	NM_015565,p.N582fs|uc002ymr.2,p.N582fs|ENST00000389194,p.N582fs|ENST00000389195,p.N582fs|ENST00000361371,p.N536fs	protein_coding, processed_transcript	uc002ymr.2	frameshift deletion	exon10	c.1745delA	p.N582fs	KPKSSLKSSKKKNGKVRFADEILES	KPKSSLKSSKKKMVRLDLLMRYLKAIKRMKNVYLQKERRLKAGN	6.0	6.0	unscreened	-	4180_21:30339206-30339206 T>-_KPKSSLKSSKKKMVRLDLLMRYLKAIKRMKNVYLQKERRLKAGN
6:83075505-83075505 G>A	1.0	4180	BREAST	0.0005	-	-	-	TPBG	ENST00000543496,p.G276D|uc021zcc.1,p.G276D|ENST00000369750,p.G276D|NM_001166392,p.G276D|uc003pjo.3,p.G276D|ENST00000535040,p.G276D|uc003pjn.4,p.G276D|NM_006670,p.G276D	protein_coding	uc021zcc.1	nonsynonymous SNV	exon1	c.G827A	p.G276D	HLEDNALKVLHNGTLAELQGLPHIR	HLEDNALKVLHNDTLAELQGLPHIR	8.0	5.0	unscreened	-	4180_6:83075505-83075505 G>A_HLEDNALKVLHNDTLAELQGLPHIR
5:172097003-172097003 C>T	0.0	4180	BREAST	-	-	-	-	NEURL1B	uc003mbt.3,p.R83W|ENST00000369800,p.R83W|uc021yht.1,p.R83W|ENST00000520919,p.R83W|NM_001142651,p.R83W	protein_coding	uc021yht.1	nonsynonymous SNV	exon2	c.C247T	p.R83W	FTQRPIRLYEQVRLRLVAVRPGWSG	FTQRPIRLYEQVWLRLVAVRPGWSG	6.0	2.0	unscreened	-	4180_5:172097003-172097003 C>T_FTQRPIRLYEQVWLRLVAVRPGWSG
1:214830621-214830621 G>A	1.0	4180	BREAST	-	-	-	-	CENPF	NM_016343,p.G2944E|ENST00000366955,p.G2944E|uc001hkm.3,p.G2944E	protein_coding, processed_transcript	uc001hkm.3	nonsynonymous SNV	exon18	c.G8831A	p.G2944E	RQRSSGIWENGRGPTPATPESFSKK	RQRSSGIWENGREPTPATPESFSKK	9.0	8.0	-	-	4180_1:214830621-214830621 G>A_RQRSSGIWENGREPTPATPESFSKK
5:37020634-37020634 A>-	0.0	4180	BREAST	-	-	-	-	NIPBL	ENST00000282516,p.Q1695fs|ENST00000448238,p.Q1695fs|NM_015384,p.Q1695fs|NM_133433,p.Q1695fs|uc003jkl.4,p.Q1695fs|uc003jkk.4,p.Q1695fs	retained_intron, protein_coding, processed_transcript	uc003jkl.4	frameshift deletion	exon26	c.5084delA	p.Q1695fs	DTTLETEKAMKSQKDEESSEGTHHA	DTTLETEKAMKSQKMKNHLKEHIMQRKLRQLAKLCIELKTEKSFLEALSKPHLLSLAH	7.0	10.0	unscreened	-	4180_5:37020634-37020634 A>-_DTTLETEKAMKSQKMKNHLKEHIMQRKLRQLAKLCIELKTEKSFLEALSKPHLLSLAH
17:66426234-66426234 G>T	1.0	4180	BREAST	-	-	-	-	WIPI1	ENST00000589316,p.P291H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000589316	nonsynonymous SNV	exon9	c.C872A	p.P291H	LHGKDVYGCYQLPPYPGVRHDASGQ	LHGKDVYGCYQLHPYPGVRHDASGQ	10.0	1.0	unscreened	-	4180_17:66426234-66426234 G>T_LHGKDVYGCYQLHPYPGVRHDASGQ
11:763414-763414 T>C	1.0	4180	BREAST	-	-	-	-	TALDO1	ENST00000528097,p.C178R|NM_006755,p.C178R|uc001lra.3,p.C178R|ENST00000319006,p.C178R|uc001lqz.3,p.C178R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001lra.3	nonsynonymous SNV	exon5	c.T532C	p.C178R	MTLLFSFAQAVACAEAGVTLISPFV	MTLLFSFAQAVARAEAGVTLISPFV	10.0	10.0	-	-	4180_11:763414-763414 T>C_MTLLFSFAQAVARAEAGVTLISPFV
22:30228238-30228238 G>A	0.0	4180	BREAST	0.0037	-	-	-	ASCC2	uc011akr.2,p.A26V|ENST00000542393,p.A26V|NM_001242906,p.A26V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011akr.2	nonsynonymous SNV	exon2	c.C77T	p.A26V	KDPKTGKLRTSPALVIFDETLQKCL	KDPKTGKLRTSPVLVIFDETLQKCL	9.0	2.0	unscreened	-	4180_22:30228238-30228238 G>A_KDPKTGKLRTSPVLVIFDETLQKCL
1:236737595-236737595 T>-	0.0	4180	BREAST	-	-	-	-	HEATR1	uc001hyd.2,p.K1122fs|ENST00000366582,p.K1122fs|ENST00000366581,p.K1041fs|uc009xgh.2,p.K284fs|NM_018072,p.K1122fs	protein_coding, processed_transcript	uc009xgh.2	frameshift deletion	exon6	c.852delA	p.K284fs	ITKPFFAAISDEKVQQKLLRMLFDL	ITKPFFAAISDEKFSRSF	9.0	2.0	unscreened	-	4180_1:236737595-236737595 T>-_ITKPFFAAISDEKFSRSF
12:102155083-102155083 C>T	1.0	4180	BREAST	-	-	-	-	GNPTAB	ENST00000299314,p.R986H|NM_024312,p.R986H|uc001tit.3,p.R986H	retained_intron, protein_coding, nonsense_mediated_decay	uc001tit.3	nonsynonymous SNV	exon15	c.G2957A	p.R986H	PEEFDKTSFHKVRHSEDMQFAFSYF	PEEFDKTSFHKVHHSEDMQFAFSYF	7.0	8.0	unscreened	-	4180_12:102155083-102155083 C>T_PEEFDKTSFHKVHHSEDMQFAFSYF
17:65199478-65199478 G>T	0.0	4180	BREAST	-	-	-	-	HELZ	uc002jfx.4,p.P110H|ENST00000417253,p.P110H|ENST00000579953,p.P110H|uc010des.1,p.P110H|ENST00000358691,p.P110H|uc010wqk.2,p.P110H|NM_014877,p.P110H|ENST00000580168,p.P110H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay	uc010wqk.2	nonsynonymous SNV	exon6	c.C329A	p.P110H	VLCCMQLKGKLQPVSTILAKSLTGE	VLCCMQLKGKLQHVSTILAKSLTGE	7.0	6.0	unscreened	-	4180_17:65199478-65199478 G>T_VLCCMQLKGKLQHVSTILAKSLTGE
9:5743714-5743714 G>C	1.0	4180	BREAST	-	-	-	-	RIC1	NM_001206557,p.D358H|uc003zjh.4,p.D358H|NM_020829,p.D358H|ENST00000381532,p.D279H|uc003zjl.4,p.D358H|uc003zji.4,p.D358H|ENST00000251879,p.D358H|ENST00000414202,p.D358H|ENST00000418622,p.D279H|ENST00000449720,p.D279H|NM_001135920,p.D358H	retained_intron, protein_coding, nonsense_mediated_decay	uc003zjl.4	nonsynonymous SNV	exon10	c.G1072C	p.D358H	GDFAYRSDGTKKDPLKINSMSWGAE	GDFAYRSDGTKKHPLKINSMSWGAE	9.0	8.0	unscreened	-	4180_9:5743714-5743714 G>C_GDFAYRSDGTKKHPLKINSMSWGAE
1:91967357-91967357 A>-	0.0	4180	BREAST	-	-	ID=COSM391652;OCCURENCE=10(large_intestine),1(lung)	-	CDC7	uc010osw.2,p.L28fs|ENST00000430031,p.L28fs	protein_coding, processed_transcript	uc010osw.2	frameshift deletion	exon2	c.84delA	p.L28fs	SPQRDRFQAEGSLKKNEQNFKLAGT	SPQRDRFQAEGSLKKTSRILNLQALSALFIWPQHSYK	7.0	10.0	unscreened	-	4180_1:91967357-91967357 A>-_SPQRDRFQAEGSLKKTSRILNLQALSALFIWPQHSYK
10:61833167-61833167 G>-	0.0	4180	BREAST	-	-	-	-	ANK3	ENST00000280772,p.P2491fs|uc001jky.3,p.P2491fs|NM_020987,p.P2491fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jky.3	frameshift deletion	exon37	c.7472delC	p.P2491fs	DTEESVTDHAGPPSSELQGSDKRSR	DTEESVTDHAGPLAQSYRGLISGPEKK	9.0	7.0	unscreened	-	4180_10:61833167-61833167 G>-_DTEESVTDHAGPLAQSYRGLISGPEKK
7:139706967-139706967 A>G	0.0	4180	BREAST	-	-	-	-	TBXAS1	NM_001166253,p.Y451C|ENST00000411653,p.Y404C|ENST00000436047,p.Y405C|ENST00000425687,p.Y337C|uc003vvh.3,p.Y405C|ENST00000263552,p.Y405C|uc011kqw.2,p.Y385C|NM_001166254,p.Y337C|uc011kqv.2,p.Y451C|ENST00000458722,p.Y450C|ENST00000336425,p.Y404C|NM_001061,p.Y405C|uc010lne.3,p.Y337C|ENST00000414508,p.Y405C|uc003vvj.3,p.Y405C|NM_030984,p.Y405C|ENST00000448866,p.Y404C|NM_001130966,p.Y405C|ENST00000416849,p.Y451C|uc011kqu.2,p.Y356C|uc003vvi.3,p.Y405C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kqw.2	nonsynonymous SNV	exon10	c.A1154G	p.Y385C	YLDMVIAETLRMYPPAFRFTREAAQ	YLDMVIAETLRMCPPAFRFTREAAQ	8.0	7.0	unscreened	-	4180_7:139706967-139706967 A>G_YLDMVIAETLRMCPPAFRFTREAAQ
8:41166597-41166597 C>T	0.0	4180	BREAST	-	-	-	-	SFRP1	uc003xnt.3,p.V28M|ENST00000220772,p.V28M|NM_003012,p.V28M	protein_coding	uc003xnt.3	nonsynonymous SNV	exon1	c.G82A	p.V28M	GVLLALGAALLAVGSASEYDYVSFQ	GVLLALGAALLAMGSASEYDYVSFQ	6.0	2.0	unscreened	-	4180_8:41166597-41166597 C>T_GVLLALGAALLAMGSASEYDYVSFQ
19:5951505-5951505 G>A	0.0	4180	BREAST	-	-	-	-	RANBP3	ENST00000587263,p.H61Y|NM_007322,p.H61Y|ENST00000591333,p.H82Y|uc002mdx.3,p.H61Y|ENST00000340578,p.H61Y|uc002mdw.3,p.H61Y|ENST00000439268,p.H61Y|NM_003624,p.H61Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mdx.3	nonsynonymous SNV	exon3	c.C181T	p.H61Y	HHGTGHPESAGEHALEPPAPAGASA	HHGTGHPESAGEYALEPPAPAGASA	10.0	6.0	unscreened	-	4180_19:5951505-5951505 G>A_HHGTGHPESAGEYALEPPAPAGASA
7:101840133-101840133 A>G	1.0	4180	BREAST	-	-	-	1	CUX1	uc003uyx.4,p.N481S|NM_181552,p.N481S|NM_001202543,p.N492S|ENST00000360264,p.N492S|ENST00000549414,p.N481S|ENST00000292535,p.N481S|uc003uys.4,p.N492S|ENST00000550008,p.N481S	retained_intron, protein_coding, processed_transcript	uc003uyx.4	nonsynonymous SNV	exon15	c.A1442G	p.N481S	SLPLASTGKFALNSLLQRQLMQSFY	SLPLASTGKFALSSLLQRQLMQSFY	9.0	7.0	unscreened	-	4180_7:101840133-101840133 A>G_SLPLASTGKFALSSLLQRQLMQSFY
1:226825426-226825426 G>T	1.0	4180	BREAST	-	-	-	-	ITPKB	NM_002221,p.A860D|uc010pvo.2,p.A860D|ENST00000272117,p.A860D|ENST00000429204,p.A860D	protein_coding	uc010pvo.2	nonsynonymous SNV	exon7	c.C2579A	p.A860D	HNILIAYRDRLKAIRTTLEVSPFFK	HNILIAYRDRLKDIRTTLEVSPFFK	7.0	4.0	unscreened	-	4180_1:226825426-226825426 G>T_HNILIAYRDRLKDIRTTLEVSPFFK
11:66241251-66241251 G>T	1.0	4180	BREAST	-	-	-	-	PELI3	uc001oid.4,p.G208V|uc001oib.2,p.G232V|uc001oic.4,p.G232V|ENST00000349459,p.G208V|ENST00000528752,p.G19V|uc021qly.1,p.G125V|ENST00000526296,p.G125V|NM_145065,p.G232V|NM_001243136,p.G125V|ENST00000524466,p.G232V|NM_001243135,p.G169V|NM_001098510,p.G208V|ENST00000320740,p.G232V	protein_coding, processed_transcript, nonsense_mediated_decay	uc021qly.1	nonsynonymous SNV	exon5	c.G374T	p.G125V	AAKWRTPDGLMDGLTTNGVLVMHPA	AAKWRTPDGLMDVLTTNGVLVMHPA	7.0	5.0	unscreened	-	4180_11:66241251-66241251 G>T_AAKWRTPDGLMDVLTTNGVLVMHPA
12:56742817-56742817 G>-	1.0	4180	BREAST	-	-	-	-	STAT2	NM_198332,p.P485fs|uc001slc.3,p.P489fs|ENST00000314128,p.P489fs|uc001sld.3,p.P485fs|NM_005419,p.P489fs|uc001slb.3,p.P31fs|ENST00000557235,p.P485fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sld.3	frameshift deletion	exon17	c.1455delC	p.P485fs	PNLQNQQFFSNPPKAPWSLLGPALS	PNLQNQQFFSNPPRPPGACWALLSVGSSPPMLAEASTQTS	9.0	10.0	unscreened	-	4180_12:56742817-56742817 G>-_PNLQNQQFFSNPPRPPGACWALLSVGSSPPMLAEASTQTS
22:30752759-30752759 G>A	1.0	4180	BREAST	-	-	-	-	SF3A1	ENST00000439242,p.A8V|ENST00000215793,p.A8V|uc003ahl.3,p.A8V|ENST00000411423,p.A8V|NM_005877,p.A8V|uc021wnt.1,p.A8V|ENST00000447376,p.A8V	retained_intron, protein_coding, nonsense_mediated_decay	uc021wnt.1	nonsynonymous SNV	exon1	c.C23T	p.A8V	MPAGPVQAVPPPPPVPTEPK	MPAGPVQVVPPPPPVPTEPK	10.0	10.0	unscreened	-	4180_22:30752759-30752759 G>A_MPAGPVQVVPPPPPVPTEPK
7:73151616-73151616 C>T	1.0	4180	BREAST	-	-	-	-	ABHD11	NM_148912,p.A190T|uc003tzc.3,p.A183T|uc003tzb.3,p.A190T|ENST00000437775,p.A183T|ENST00000222800,p.A190T|NM_148913,p.A183T|uc003tza.3,p.A77T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003tzc.3	nonsynonymous SNV	exon4	c.G547A	p.A183T	ATYVAAMRAINIADELPRSRARKLA	ATYVAAMRAINITDELPRSRARKLA	9.0	10.0	unscreened	-	4180_7:73151616-73151616 C>T_ATYVAAMRAINITDELPRSRARKLA
16:3823805-3823805 C>T	1.0	4180	BREAST	-	-	-	1	CREBBP	NM_001079846,p.G766R|ENST00000382070,p.G766R|uc002cvv.3,p.G804R|uc002cvw.3,p.G766R|ENST00000262367,p.G804R|NM_004380,p.G804R	retained_intron, protein_coding	uc002cvw.3	nonsynonymous SNV	exon12	c.G2296A	p.G766R	QFLPQNQFPSSSGAMSVGMGQPPAQ	QFLPQNQFPSSSRAMSVGMGQPPAQ	7.0	10.0	unscreened	-	4180_16:3823805-3823805 C>T_QFLPQNQFPSSSRAMSVGMGQPPAQ
7:99045783-99045783 C>G	1.0	4180	BREAST	-	-	-	-	CPSF4	uc003uqk.3,p.T65R|ENST00000292476,p.T65R|NM_006693,p.T65R|ENST00000436336,p.T65R|ENST00000451876,p.T65R|ENST00000452047,p.T32R|uc003uqj.3,p.T65R|uc003uqi.3,p.T65R|NM_001081559,p.T65R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uqk.3	nonsynonymous SNV	exon3	c.C194G	p.T65R	GMCPFRHISGEKTVVCKHWLRGLCK	GMCPFRHISGEKRVVCKHWLRGLCK	8.0	5.0	unscreened	-	4180_7:99045783-99045783 C>G_GMCPFRHISGEKRVVCKHWLRGLCK
11:62370714-62370714 C>T	1.0	4180	BREAST	-	-	-	-	EML3	ENST00000529309,p.V755M|NM_153265,p.V755M|ENST00000531557,p.V538M|NM_001300793,p.V756M|ENST00000494176,p.V727M|ENST00000394773,p.V755M|uc010rly.1,p.V755M|uc001ntu.1,p.V755M|NM_001300794,p.V755M|uc001ntr.1,p.V727M|uc001nts.1,p.V727M|ENST00000278845,p.V756M|uc001ntt.1,p.V639M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rly.1	nonsynonymous SNV	exon20	c.G2263A	p.V755M	SNSGDYEILYWDVAGGCKQLKNRYE	SNSGDYEILYWDMAGGCKQLKNRYE	7.0	2.0	unscreened	-	4180_11:62370714-62370714 C>T_SNSGDYEILYWDMAGGCKQLKNRYE
12:49445203-49445203 G>-	0.0	4180	BREAST	-	-	-	1	KMT2D	ENST00000301067,p.R755fs|uc001rta.4,p.R755fs|NM_003482,p.R755fs	retained_intron, protein_coding, processed_transcript	uc001rta.4	frameshift deletion	exon10	c.2263delC	p.R755fs	LSPRPEEPHLSPRPEEPHLSPQAEE	LSPRPEEPHLSPGLRSHTYLRRLRSHTCPPSLRSHAYALCLRSHTCPPRLRDHICPLSLRNCTCPPRLRSRTCLLCLRSHACPPNLRNHTCPPSLRSHACPPGLRNRICPLSLRSHPCPLGLKSPLRSQANALHLRSCPCSLPLGNHPYLPCLESQPCLSLGNHLCPLCPRSCRCPHLGSHPCRLS	7.0	2.0	unscreened	-	4180_12:49445203-49445203 G>-_LSPRPEEPHLSPGLRSHTYLRRLRSHTCPPSLRSHAYALCLRSHTCPPRLRDHICPLSLRNCTCPPRLRSRTCLLCLRSHACPPNLRNHTCPPSLRSHACPPGLRNRICPLSLRSHPCPLGLKSPLRSQANALHLRSCPCSLPLGNHPYLPCLESQPCLSLGNHLCPLCPRSCRCPHLGSHPCRLS
16:2096314-2096314 G>A	0.0	4180	BREAST	-	-	-	2	NTHL1	uc002col.1,p.R65C|NM_002528,p.R65C|ENST00000219066,p.R65C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc002col.1	nonsynonymous SNV	exon2	c.C193T	p.R65C	SPVKRPRKAQRLRVAYEGSDSEKGE	SPVKRPRKAQRLCVAYEGSDSEKGE	9.0	1.0	unscreened	-	4180_16:2096314-2096314 G>A_SPVKRPRKAQRLCVAYEGSDSEKGE
5:148745657-148745657 T>C	0.0	4180	BREAST	-	-	-	-	PCYOX1L	uc003lqk.2,p.V208A|uc003lql.2,p.V191A|NM_001301055,p.V191A|uc003lqm.2,p.V90A|NM_024028,p.V208A|ENST00000274569,p.V208A|NM_001301054,p.V191A|uc003lqn.2,p.V118A|ENST00000514349,p.V118A	retained_intron, protein_coding, nonsense_mediated_decay	uc003lqn.2	nonsynonymous SNV	exon3	c.T353C	p.V118A	LQVGVTQRFIDDVVSAVLRASYGQS	LQVGVTQRFIDDAVSAVLRASYGQS	6.0	9.0	unscreened	-	4180_5:148745657-148745657 T>C_LQVGVTQRFIDDAVSAVLRASYGQS
5:53813902-53813902 G>-	1.0	4180	BREAST	-	-	-	-	SNX18	uc003jpj.4,p.E40fs|ENST00000326277,p.E40fs|ENST00000381410,p.E40fs|NM_001145427,p.E40fs|uc011cqg.2,p.E40fs|NM_001102575,p.E40fs|ENST00000343017,p.E40fs|uc003jpi.4,p.E40fs|NM_052870,p.E40fs	protein_coding	uc011cqg.2	frameshift deletion	exon1	c.120delG	p.E40fs	SLCSEQDIEGWLEGVNSRGDRGLFP	SLCSEQDIEGWLEGSTAAATAASSRPPMCR	6.0	10.0	unscreened	-	4180_5:53813902-53813902 G>-_SLCSEQDIEGWLEGSTAAATAASSRPPMCR
22:30228238-30228238 G>A	0.0	4180	BREAST	0.0037	-	-	-	ASCC2	ENST00000412689,p.A26V|uc003agr.3,p.A26V|ENST00000431535,p.A26V|ENST00000307790,p.A26V|ENST00000397771,p.A26V|NM_032204,p.A26V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003agr.3	nonsynonymous SNV	exon2	c.C77T	p.A26V	KDPKTGKLRTSPALHPEQKADRYFV	KDPKTGKLRTSPVLHPEQKADRYFV	9.0	2.0	unscreened	-	4180_22:30228238-30228238 G>A_KDPKTGKLRTSPVLHPEQKADRYFV
12:58186781-58186781 T>C	1.0	4180	BREAST	-	-	-	-	TSFM	NM_001172696,p.S187P|ENST00000323833,p.S187P|uc001sqh.3,p.S187P	protein_coding, processed_transcript, nonsense_mediated_decay	uc001sqh.3	nonsynonymous SNV	exon6	c.T559C	p.S187P	AEAGGSLEGFLNSSELSGLPAGPDR	AEAGGSLEGFLNPSELSGLPAGPDR	10.0	9.0	-	-	4180_12:58186781-58186781 T>C_AEAGGSLEGFLNPSELSGLPAGPDR
17:74287354-74287354 C>T	0.0	4180	BREAST	-	-	-	-	QRICH2	uc002jrd.1,p.V986I|NM_032134,p.V986I|ENST00000262765,p.V986I	protein_coding, nonsense_mediated_decay	uc002jrd.1	nonsynonymous SNV	exon4	c.G2956A	p.V986I	HGIPAQKAPGQDVTLFRSPDSVDRV	HGIPAQKAPGQDITLFRSPDSVDRV	6.0	8.0	unscreened	-	4180_17:74287354-74287354 C>T_HGIPAQKAPGQDITLFRSPDSVDRV
16:4852446-4852448 CTC>-	0.0	4180	BREAST	-	-	-	-	ROGDI	ENST00000588201,p.18_18del|ENST00000587377,p.18_18del|ENST00000587843,p.18_18del|uc002cxv.4,p.18_18del|ENST00000322048,p.18_18del|uc010uxu.3,p.18_18del|NM_024589,p.18_18del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uxu.3	nonframeshift deletion	exon2	c.52_54del	p.18_18del	AATAAERAVLEEEFRWLLHDEVHAV	AATAAERAVLEEFRWLLHDEVHAVL	9.0	10.0	unscreened	-	4180_16:4852446-4852448 CTC>-_AATAAERAVLEEFRWLLHDEVHAVL
11:71146837-71146837 C>T	0.0	4180	BREAST	0.0018	-	-	-	DHCR7	ENST00000355527,p.V338M|ENST00000533800,p.V88M|uc001oqk.3,p.V338M|ENST00000407721,p.V338M|NM_001163817,p.V338M|NM_001360,p.V338M|uc001oql.3,p.V338M	retained_intron, protein_coding	uc001oql.3	nonsynonymous SNV	exon9	c.G1012A	p.V338M	VYHPVQLSTPHAVGVLLLGLVGYYI	VYHPVQLSTPHAMGVLLLGLVGYYI	9.0	4.0	unscreened	-	4180_11:71146837-71146837 C>T_VYHPVQLSTPHAMGVLLLGLVGYYI
19:50098808-50098808 C>-	0.0	4180	BREAST	-	-	ID=COSM1239960,COSM1239961;OCCURENCE=1(oesophagus),1(large_intestine)	-	PRR12	uc002poo.4,p.P406fs|ENST00000418929,p.P406fs|NM_020719,p.P406fs	retained_intron, protein_coding	uc002poo.4	frameshift deletion	exon4	c.1216delC	p.P406fs	GGYGAAAGGATRPPPPRSTATPKCQ	GGYGAAAGGATRPPHPVRPPPPNVRAWVGQQPPMPLGRPLGLEGQGARLIPPVSLKGFWDPRPTGKGLEGGRHRT	6.0	4.0	unscreened	-	4180_19:50098808-50098808 C>-_GGYGAAAGGATRPPHPVRPPPPNVRAWVGQQPPMPLGRPLGLEGQGARLIPPVSLKGFWDPRPTGKGLEGGRHRT
8:94747495-94747496 TA>-	0.0	4180	BREAST	-	-	-	-	RBM12B	uc003yfz.3,p.D381fs|uc022aye.1,p.D381fs|ENST00000399300,p.D381fs|ENST00000517700,p.D381fs|NM_203390,p.D381fs	protein_coding, processed_transcript	uc022aye.1	frameshift deletion	exon1	c.1143_1144del	p.D381fs	RYEKKRSGSLERDRPGHVSQKYSQE	RYEKKRSGSLEREARTCFTKILSRR	8.0	1.0	unscreened	-	4180_8:94747495-94747496 TA>-_RYEKKRSGSLEREARTCFTKILSRR
1:156914866-156914866 C>T	0.0	4180	BREAST	-	-	-	-	ARHGEF11	ENST00000361409,p.R939H|uc010phu.2,p.R355H|NM_014784,p.R939H|NM_198236,p.R979H|ENST00000368194,p.R979H|uc001fqn.3,p.R979H|ENST00000315174,p.R355H|uc001fqo.3,p.R939H	protein_coding, processed_transcript	uc010phu.2	nonsynonymous SNV	exon9	c.G1064A	p.R355H	TENRHRLEGYQKRLDATALERASNP	TENRHRLEGYQKHLDATALERASNP	8.0	1.0	unscreened	-	4180_1:156914866-156914866 C>T_TENRHRLEGYQKHLDATALERASNP
13:53217492-53217492 T>C	1.0	4180	BREAST	-	-	-	-	HNRNPA1L2	uc001vgz.1,p.Y289H|ENST00000342657,p.Y289H|ENST00000398039,p.Y289H|ENST00000357495,p.Y289H|uc001vgx.1,p.Y289H|uc001vgy.1,p.Y289H|NM_001011725,p.Y289H|uc021rjy.1,p.Y289H|NM_001011724,p.Y289H	protein_coding	uc021rjy.1	nonsynonymous SNV	exon1	c.T865C	p.Y289H	KGGNFGGRSSGPYGGGGQYFAKPQN	KGGNFGGRSSGPHGGGGQYFAKPQN	9.0	6.0	unscreened	-	4180_13:53217492-53217492 T>C_KGGNFGGRSSGPHGGGGQYFAKPQN
19:58153412-58153412 C>A	1.0	4180	BREAST	-	-	-	-	ZNF211	NM_198855,p.Q520K|ENST00000544273,p.Q532K|NM_001265600,p.Q459K|uc010yhe.2,p.Q511K|uc002qpp.2,p.Q533K|ENST00000541801,p.Q511K|ENST00000391703,p.Q459K|uc010yhb.1,p.Q524K|NM_001265597,p.Q585K|ENST00000420680,p.Q524K|uc002qpq.2,p.Q520K|ENST00000347302,p.Q520K|uc010yhd.2,p.Q459K|NM_001265598,p.Q572K|uc031rnh.1,p.Q572K|uc002qpr.2,p.Q584K|uc002qpt.2,p.Q532K|ENST00000240731,p.Q533K|uc010yhc.1,p.Q532K|NM_006385,p.Q533K|ENST00000299871,p.Q585K|NM_001265599,p.Q511K|uc031rng.1,p.Q585K|ENST00000254182,p.Q511K	retained_intron, protein_coding, nonsense_mediated_decay	uc031rnh.1	nonsynonymous SNV	exon4	c.C1714A	p.Q572K	PYECSECGKSFSQSSSLIQHRRVHT	PYECSECGKSFSKSSSLIQHRRVHT	7.0	1.0	unscreened	-	4180_19:58153412-58153412 C>A_PYECSECGKSFSKSSSLIQHRRVHT
11:67432003-67432003 G>A	1.0	4180	BREAST	-	-	-	-	ALDH3B2	uc001oms.3,p.T246M|NM_000695,p.T246M|uc009ysa.1,p.T246M|ENST00000530069,p.T246M|ENST00000349015,p.T246M|uc001omr.3,p.T246M|NM_001031615,p.T246M	retained_intron, protein_coding, processed_transcript	uc009ysa.1	nonsynonymous SNV	exon8	c.C737T	p.T246M	YIAPTVLVDVQETEPVMQEEIFGPI	YIAPTVLVDVQEMEPVMQEEIFGPI	8.0	10.0	unscreened	-	4180_11:67432003-67432003 G>A_YIAPTVLVDVQEMEPVMQEEIFGPI
5:156908819-156908819 G>T	0.0	4180	BREAST	-	-	-	-	ADAM19	NM_033274,p.L895M|ENST00000257527,p.L895M|ENST00000394020,p.L897M|uc003lwz.4,p.L895M	retained_intron, protein_coding, nonsense_mediated_decay	uc003lwz.4	nonsynonymous SNV	exon22	c.C2683A	p.L895M	RPPGAGPQQSRPLAALAPKFPEYRS	RPPGAGPQQSRPMAALAPKFPEYRS	7.0	7.0	unscreened	-	4180_5:156908819-156908819 G>T_RPPGAGPQQSRPMAALAPKFPEYRS
1:205492500-205492500 C>-	0.0	4180	BREAST	-	-	-	-	CDK18	uc010pri.2,p.H27fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010pri.2	frameshift deletion	exon2	c.81delC	p.H27fs	YQTLPSHLPLPAHPLPTGLRGGAQR	YQTLPSHLPLPAHPSPLALGEEHSAGGGGLPFSPSGQRGREGS	8.0	5.0	unscreened	-	4180_1:205492500-205492500 C>-_YQTLPSHLPLPAHPSPLALGEEHSAGGGGLPFSPSGQRGREGS
1:22033386-22033386 A>-	0.0	4180	BREAST	-	-	-	-	USP48	uc010odq.2,p.S659fs|ENST00000529637,p.S659fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010odq.2	frameshift deletion	exon16	c.1975delT	p.S659fs	EDILCPHAVFFFSKYIFLNSGELCI	EDILCPHAVFFFPNIFF	8.0	10.0	unscreened	-	4180_1:22033386-22033386 A>-_EDILCPHAVFFFPNIFF
19:6755137-6755137 G>-	0.0	4180	BREAST	-	-	-	-	SH2D3A	NM_005490,p.P229fs|ENST00000245908,p.P229fs|uc010xjg.2,p.P107fs|ENST00000437152,p.P107fs|uc002mft.3,p.P229fs	retained_intron, protein_coding, processed_transcript	uc010xjg.2	frameshift deletion	exon4	c.320delC	p.P107fs	PSFELPDASERPPTYCELVPRVPSV	PSFELPDASERPRRTASWCPECPVSREHPRAKAAQSQRPHGGRPRRMRRKRIDVLQDHRLRSLSAPMMPPPACWAPRIGPWNPKSCIPSVACSWSTILGAPPFTCYW	8.0	1.0	unscreened	-	4180_19:6755137-6755137 G>-_PSFELPDASERPRRTASWCPECPVSREHPRAKAAQSQRPHGGRPRRMRRKRIDVLQDHRLRSLSAPMMPPPACWAPRIGPWNPKSCIPSVACSWSTILGAPPFTCYW
19:38655514-38655514 G>-	0.0	4180	BREAST	-	-	-	-	SIPA1L3	NM_015073,p.A1392fs|ENST00000222345,p.A1392fs|uc002ohk.3,p.A1392fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ohk.3	frameshift deletion	exon15	c.4176delG	p.A1392fs	LYSSGSSTPTGLAGGSRDPPRQPSD	LYSSGSSTPTGLAGAAETHRGSPVTWARGLATPLRFTKLPVQRLLGPPSWPSPAPFSSPPPSPSPSSPSSLYAISTQQGGRERRSPHHGHSPSVTQRSRWTRTPKMSLGNRG	8.0	1.0	unscreened	-	4180_19:38655514-38655514 G>-_LYSSGSSTPTGLAGAAETHRGSPVTWARGLATPLRFTKLPVQRLLGPPSWPSPAPFSSPPPSPSPSSPSSLYAISTQQGGRERRSPHHGHSPSVTQRSRWTRTPKMSLGNRG
2:197649623-197649623 C>T	1.0	4180	BREAST	-	-	-	-	GTF3C3	uc002utu.3,p.E358K|uc002uts.3,p.E358K|uc010zgu.2,p.E358K|uc002utt.4,p.E33K|ENST00000409364,p.E358K|ENST00000448087,p.E43K|NM_012086,p.E358K|NM_001206774,p.E358K|ENST00000263956,p.E358K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zgu.2	nonsynonymous SNV	exon8	c.G1072A	p.E358K	LEIITDFSGIVLEKKTSEEGTSEEN	LEIITDFSGIVLKKKTSEEGTSEEN	8.0	2.0	unscreened	-	4180_2:197649623-197649623 C>T_LEIITDFSGIVLKKKTSEEGTSEEN
22:25023438-25023438 C>A	1.0	4180	BREAST	-	-	-	-	GGT1	uc003aat.1,p.L354I|ENST00000406383,p.L354I|uc003aax.2,p.L354I|uc003aav.2,p.L354I|ENST00000412658,p.L354I|ENST00000400383,p.L354I|uc003aaw.2,p.L354I|NM_001288833,p.L354I|ENST00000400380,p.L354I|uc003aas.1,p.L354I|uc003aan.1,p.L354I|ENST00000248923,p.L354I|ENST00000400382,p.L354I|NM_013421,p.L354I|uc003aau.2,p.L354I|NM_013430,p.L354I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003aax.2	nonsynonymous SNV	exon12	c.C1060A	p.L354I	VRNMTSEFFAAQLRAQISDDTTHPI	VRNMTSEFFAAQIRAQISDDTTHPI	7.0	10.0	unscreened	-	4180_22:25023438-25023438 C>A_VRNMTSEFFAAQIRAQISDDTTHPI
17:58034615-58034615 T>C	1.0	4180	BREAST	-	-	-	-	RNFT1	ENST00000305783,p.I325M|NM_016125,p.I325M|uc002iya.3,p.I325M	retained_intron, protein_coding, nonsense_mediated_decay	uc002iya.3	nonsynonymous SNV	exon6	c.A975G	p.I325M	GEFGNVTRWSLGILLALLYLILKLL	GEFGNVTRWSLGMLLALLYLILKLL	8.0	9.0	unscreened	-	4180_17:58034615-58034615 T>C_GEFGNVTRWSLGMLLALLYLILKLL
16:58566244-58566244 T>C	1.0	4180	BREAST	-	-	-	-	CNOT1	uc002enu.5,p.E1979G|NM_016284,p.E1984G|NM_001265612,p.E1979G|ENST00000569240,p.E1979G|ENST00000568917,p.E364G|ENST00000567188,p.E1979G|uc002env.4,p.E1984G|ENST00000317147,p.E1984G|ENST00000245138,p.E835G|uc010vik.3,p.E941G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vik.3	nonsynonymous SNV	exon18	c.A2822G	p.E941G	GVLLQDHDVRQSEFQQLPYHRIFIM	GVLLQDHDVRQSGFQQLPYHRIFIM	10.0	6.0	-	-	4180_16:58566244-58566244 T>C_GVLLQDHDVRQSGFQQLPYHRIFIM
20:61908561-61908561 T>C	1.0	4180	BREAST	-	-	-	-	ARFGAP1	NM_001281482,p.V116A|NM_001281483,p.V63A|uc002yel.3,p.V116A|uc002yem.3,p.V116A|NM_175609,p.V116A|uc002yen.3,p.V116A|ENST00000519604,p.V63A|ENST00000522403,p.V116A|ENST00000547204,p.V42A|ENST00000370275,p.V116A|ENST00000549047,p.V42A|ENST00000353546,p.V116A|ENST00000518601,p.V42A|uc011aas.1,p.V63A|NM_018209,p.V116A|ENST00000370283,p.V116A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011aas.1	nonsynonymous SNV	exon4	c.T188C	p.V63A	NSRAAALFRDKVVALAEGREWSLES	NSRAAALFRDKVAALAEGREWSLES	9.0	6.0	-	-	4180_20:61908561-61908561 T>C_NSRAAALFRDKVAALAEGREWSLES
12:40740605-40740605 G>A	1.0	4180	BREAST	-	-	ID=COSM4150062,COSM4150063;OCCURENCE=1(ovary)	-	LRRK2	uc009zjw.3,p.A892T|ENST00000298910,p.A2054T|uc001rmg.4,p.A2054T|NM_198578,p.A2054T|uc001rmi.3,p.A887T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zjw.3	nonsynonymous SNV	exon21	c.G2674A	p.A892T	EVARGNVIYNQQADVYSFGLLLYDI	EVARGNVIYNQQTDVYSFGLLLYDI	5.0	9.0	unscreened	-	4180_12:40740605-40740605 G>A_EVARGNVIYNQQTDVYSFGLLLYDI
22:20918916-20918918 CAG>-	1.0	4180	BREAST	-	-	ID=COSM390997,COSM390998;OCCURENCE=2(NS),1(lung)	-	MED15	uc011aht.1,p.185_185del|uc002zsq.3,p.211_211del|ENST00000406969,p.185_185del|uc011ahs.2,p.185_185del|uc002zso.2,p.140_140del|ENST00000425759,p.100_100del|ENST00000292733,p.211_211del|NM_001293234,p.211_211del|ENST00000382974,p.140_140del|uc002zss.3,p.130_130del|ENST00000541476,p.185_185del|NM_001003891,p.211_211del|uc002zsr.3,p.185_185del|uc002zsn.1,p.130_130del|uc002zsp.3,p.211_211del|uc010gso.3,p.211_211del|NM_001293235,p.185_185del|NM_001293236,p.140_140del|ENST00000542773,p.16_16del|ENST00000263205,p.211_211del|NM_015889,p.211_211del|NM_001293237,p.185_185del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011aht.1	nonframeshift deletion	exon6	c.553_555del	p.185_185del	QFQAVVQQQQQLQQQQQQQQHLIKL	QFQAVVQQQQQLQQQQQQQHLIKLH	9.0	3.0	unscreened	-	4180_22:20918916-20918918 CAG>-_QFQAVVQQQQQLQQQQQQQHLIKLH
19:621742-621742 ->G	0.0	4180	BREAST	-	-	-	-	POLRMT	NM_005035,p.P652fs|ENST00000588649,p.P652fs|uc002lpf.1,p.P652fs	retained_intron, protein_coding, processed_transcript	uc002lpf.1	frameshift insertion	exon10	c.1955dupC	p.P652fs	TFEAVDVPMLCPPLPWTSPHSGAFL	TFEAVDVPMLCPPAALDIAALWCFPAQPHQADAHGGRRHAAPGAAGNLPAHRAAWRTGRPHPTGQLRLARQRARAGPGAAALPGQGLPPARRAGPALRGAPAARGPPAAQRRARPQGRAAP	9.0	2.0	unscreened	-	4180_19:621742-621742 ->G_TFEAVDVPMLCPPAALDIAALWCFPAQPHQADAHGGRRHAAPGAAGNLPAHRAAWRTGRPHPTGQLRLARQRARAGPGAAALPGQGLPPARRAGPALRGAPAARGPPAAQRRARPQGRAAP
17:76117168-76117168 G>-	0.0	4180	BREAST	-	-	ID=COSM1288483;OCCURENCE=1(autonomic_ganglia)	-	TMC6	ENST00000589553,p.P260fs|uc002juo.2,p.P260fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002juo.2	frameshift deletion	exon10	c.780delC	p.P260fs	LPLVVGLLNLGAPYLCRVLAALEPH	LPLVVGLLNLGAPTCAVSWPPWSRMTPRYWRCTWPSAGVWPHMKTSFGAGA	9.0	3.0	unscreened	-	4180_17:76117168-76117168 G>-_LPLVVGLLNLGAPTCAVSWPPWSRMTPRYWRCTWPSAGVWPHMKTSFGAGA
7:6210523-6210523 G>A	1.0	4180	BREAST	-	-	-	-	CYTH3	uc003spt.3,p.R217W|NM_004227,p.R217W|ENST00000350796,p.R217W|ENST00000396741,p.R132W|uc011jws.2,p.R132W	retained_intron, protein_coding, processed_transcript	uc011jws.2	nonsynonymous SNV	exon3	c.C394T	p.R132W	HNHNVRDKPTAERFIAMNRGINEGG	HNHNVRDKPTAEWFIAMNRGINEGG	7.0	9.0	unscreened	-	4180_7:6210523-6210523 G>A_HNHNVRDKPTAEWFIAMNRGINEGG
10:69672603-69672603 A>-	1.0	4180	BREAST	-	-	-	-	SIRT1	uc001jne.3,p.E274fs|uc009xpp.3,p.E385fs|uc010qis.2,p.E282fs|uc001jnd.3,p.E577fs|NM_012238,p.E577fs|ENST00000432464,p.E282fs|ENST00000403579,p.E274fs|NM_001142498,p.E282fs|ENST00000406900,p.E274fs|ENST00000212015,p.E577fs	protein_coding, processed_transcript	uc010qis.2	frameshift deletion	exon7	c.845delA	p.E282fs	DLDVSESKGCMEEKPQEVQTSRNVE	DLDVSESKGCMEENHRKYKLLGMLKVLLNRWKIRI	6.0	7.0	unscreened	-	4180_10:69672603-69672603 A>-_DLDVSESKGCMEENHRKYKLLGMLKVLLNRWKIRI
5:137802857-137802857 A>G	1.0	4180	BREAST	-	-	-	-	EGR1	ENST00000239938,p.Y240C|NM_001964,p.Y240C|uc003ldb.1,p.Y240C	protein_coding	uc003ldb.1	nonsynonymous SNV	exon2	c.A719G	p.Y240C	SAGTALQYPPPAYPAAKGGFQVPMI	SAGTALQYPPPACPAAKGGFQVPMI	7.0	9.0	unscreened	-	4180_5:137802857-137802857 A>G_SAGTALQYPPPACPAAKGGFQVPMI
13:98673303-98673303 A>G	1.0	4180	BREAST	-	-	-	-	IPO5	ENST00000261574,p.I1059M|uc001vne.3,p.I1059M|ENST00000490680,p.I1041M|NM_002271,p.I1059M|ENST00000539640,p.I916M|ENST00000357602,p.I1041M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001vne.3	nonsynonymous SNV	exon28	c.A3177G	p.I1059M	GPNNTNLPKIFSIIAEGEMHEAIKH	GPNNTNLPKIFSMIAEGEMHEAIKH	10.0	2.0	unscreened	-	4180_13:98673303-98673303 A>G_GPNNTNLPKIFSMIAEGEMHEAIKH
6:31726341-31726341 G>T	1.0	4180	BREAST	-	-	-	-	MSH5	ENST00000450148,p.S229I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000450148	nonsynonymous SNV	exon9	c.G686T	p.S229I	KVYLSPQVDFEGSLAENRFTVLPNI	KVYLSPQVDFEGILAENRFTVLPNI	7.0	8.0	unscreened	-	4180_6:31726341-31726341 G>T_KVYLSPQVDFEGILAENRFTVLPNI
6:31726341-31726341 G>T	1.0	4180	BREAST	-	-	-	-	MSH5	NM_025259,p.S404I|ENST00000375703,p.S387I|uc003nwu.2,p.S387I|NM_172166,p.S387I|ENST00000534153,p.S404I|ENST00000375742,p.S404I|ENST00000375750,p.S387I|ENST00000375755,p.S387I|uc003nww.2,p.S387I|ENST00000395853,p.S61I|ENST00000431848,p.S86I|uc003nwx.2,p.S404I|uc003nwv.2,p.S387I|ENST00000493662,p.S404I|ENST00000423982,p.S387I|ENST00000375740,p.S404I|uc011dof.1,p.S86I|NM_002441,p.S387I|uc003nwy.1,p.S61I|NM_172165,p.S387I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dof.1	nonsynonymous SNV	exon6	c.G257T	p.S86I	ASLIGKVVDFEGSLAENRFTVLPNI	ASLIGKVVDFEGILAENRFTVLPNI	7.0	8.0	unscreened	-	4180_6:31726341-31726341 G>T_ASLIGKVVDFEGILAENRFTVLPNI
12:7249406-7249406 T>C	1.0	4180	BREAST	-	-	-	-	C1RL	NM_001297640,p.I307V|uc001qsn.3,p.I349V|NM_016546,p.I349V|ENST00000266542,p.I349V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001qsn.3	nonsynonymous SNV	exon6	c.A1045G	p.I349V	SGDIALLELQHSIPLGPNVLPVCLP	SGDIALLELQHSVPLGPNVLPVCLP	8.0	10.0	unscreened	-	4180_12:7249406-7249406 T>C_SGDIALLELQHSVPLGPNVLPVCLP
19:1434830-1434830 G>-	1.0	4180	BREAST	-	-	-	-	DAZAP1	uc002lsn.3,p.S381fs|NM_018959,p.S381fs|ENST00000233078,p.S381fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lsn.3	frameshift deletion	exon12	c.1143delG	p.S381fs	QPPSYGGPSVPGSGGPPAGGSGFGR	QPPSYGGPSVPGSGAPPPAAAALDEGRTTTCKGSTPTDA	10.0	1.0	unscreened	-	4180_19:1434830-1434830 G>-_QPPSYGGPSVPGSGAPPPAAAALDEGRTTTCKGSTPTDA
1:118495212-118495212 C>T	1.0	4180	BREAST	-	-	-	-	WDR3	uc010oxe.1,p.S693L|ENST00000349139,p.S693L|NM_006784,p.S693L	protein_coding, processed_transcript	uc010oxe.1	nonsynonymous SNV	exon19	c.C2078T	p.S693L	LAVSPSGDYVVSSSHDKSLRLWERT	LAVSPSGDYVVSLSHDKSLRLWERT	9.0	5.0	-	-	4180_1:118495212-118495212 C>T_LAVSPSGDYVVSLSHDKSLRLWERT
20:62198908-62198909 GA>-	1.0	4180	BREAST	-	-	-	-	HELZ2	ENST00000467148,p.L601fs|NM_033405,p.L32fs|ENST00000427522,p.L32fs|uc002yfm.2,p.L601fs|uc002yfl.1,p.L32fs|NM_001037335,p.L601fs	retained_intron, protein_coding, processed_transcript	uc002yfm.2	frameshift deletion	exon7	c.1802_1803del	p.L601fs	SHVSGGHPEATPLRVMYTDRPLSQT	SHVSGGHPEATPPCDVHGPAAEPDGPSHAAVLLPDRRPPGFPPAHTGRAGAAPRGGHHHLPGP	7.0	5.0	unscreened	-	4180_20:62198908-62198909 GA>-_SHVSGGHPEATPPCDVHGPAAEPDGPSHAAVLLPDRRPPGFPPAHTGRAGAAPRGGHHHLPGP
10:126655307-126655307 T>A	1.0	4180	BREAST	-	-	-	-	ZRANB1	NM_017580,p.I320K|ENST00000359653,p.I320K|uc001lic.3,p.I320K|uc010qug.2,p.I346K	protein_coding, processed_transcript	uc010qug.2	nonsynonymous SNV	exon3	c.T1037A	p.I346K	AFDVGYTLVHLAIRFQRQDMLAILL	AFDVGYTLVHLAKRFQRQDMLAILL	6.0	10.0	unscreened	-	4180_10:126655307-126655307 T>A_AFDVGYTLVHLAKRFQRQDMLAILL
16:23424788-23424788 C>T	1.0	4180	BREAST	-	-	-	-	COG7	ENST00000307149,p.A464T|NM_153603,p.A464T|uc002dlo.3,p.A464T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dlo.3	nonsynonymous SNV	exon10	c.G1390A	p.A464T	IPPNSLFQEDWTAFQNSIRIIATCG	IPPNSLFQEDWTTFQNSIRIIATCG	7.0	10.0	unscreened	-	4180_16:23424788-23424788 C>T_IPPNSLFQEDWTTFQNSIRIIATCG
20:34778692-34778692 T>C	1.0	4180	BREAST	-	-	ID=COSM269104;OCCURENCE=1(large_intestine)	-	EPB41L1	ENST00000373950,p.Y328H|ENST00000373946,p.Y394H|NM_001258329,p.Y425H|ENST00000441639,p.Y363H|ENST00000373941,p.Y425H|uc002xfb.3,p.Y425H|uc002xex.3,p.Y394H|NM_001258330,p.Y394H|uc002xez.4,p.Y363H|NM_012156,p.Y425H|NM_001258331,p.Y363H|uc010zvo.1,p.Y425H|uc002xeu.3,p.Y363H|NM_177996,p.Y363H|uc002xey.3,p.Y352H|ENST00000202028,p.Y363H|uc002xev.3,p.Y425H|uc002xew.3,p.Y328H|ENST00000338074,p.Y425H	protein_coding, processed_transcript	uc010zvo.1	nonsynonymous SNV	exon11	c.T1273C	p.Y425H	PAPFFERSSSKRYTMSRSLDGAEFS	PAPFFERSSSKRHTMSRSLDGAEFS	8.0	7.0	unscreened	-	4180_20:34778692-34778692 T>C_PAPFFERSSSKRHTMSRSLDGAEFS
17:49198006-49198006 C>A	0.0	4180	BREAST	-	-	-	-	SPAG9	NM_001130527,p.E4D|ENST00000262013,p.E4D|ENST00000357122,p.E4D|NM_003971,p.E4D|ENST00000505279,p.E4D|uc002itd.3,p.E4D|uc002itc.3,p.E4D|uc002itb.3,p.E4D|NM_001130528,p.E4D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002itd.3	nonsynonymous SNV	exon1	c.G12T	p.E4D	MELEDGVVYQEEPGGS	MELDDGVVYQEEPGGS	9.0	3.0	unscreened	-	4180_17:49198006-49198006 C>A_MELDDGVVYQEEPGGS
11:64005096-64005096 C>T	1.0	4180	BREAST	-	-	-	-	VEGFB	NM_001243733,p.R172W|ENST00000426086,p.R172W|uc001nyx.3,p.R172W	retained_intron, protein_coding	uc001nyx.3	nonsynonymous SNV	exon6	c.C514T	p.R172W	RCRRRSFLRCQGRGLELNPDTCRCR	RCRRRSFLRCQGWGLELNPDTCRCR	10.0	6.0	-	-	4180_11:64005096-64005096 C>T_RCRRRSFLRCQGWGLELNPDTCRCR
15:70979887-70979899 TTTGTCTCTGGAA>-	1.0	4180	BREAST	-	-	-	-	UACA	ENST00000322954,p.N194fs|uc002asr.3,p.N194fs|uc010bin.1,p.N180fs|NM_001008224,p.N181fs|ENST00000560167,p.N189fs|uc002asq.3,p.N181fs|ENST00000379983,p.N181fs|NM_018003,p.N194fs|ENST00000558758,p.N181fs|ENST00000560441,p.N181fs	retained_intron, protein_coding, processed_transcript	uc010bin.1	frameshift deletion	exon7	c.540_552del	p.N180fs	ICQLLIDRGADVNSRDKQNRTALML	ICQLLIDRGADVNKTELPSC	9.0	6.0	unscreened	-	4180_15:70979887-70979899 TTTGTCTCTGGAA>-_ICQLLIDRGADVNKTELPSC
5:79331440-79331440 C>-	0.0	4180	BREAST	-	-	-	-	THBS4	uc021yaw.1,p.T27fs|ENST00000350881,p.T27fs|NM_003248,p.T27fs	protein_coding, processed_transcript	uc021yaw.1	frameshift deletion	exon1	c.80delC	p.T27fs	VLQRWLAAGAQATPQVFDLLPSSSQ	VLQRWLAAGAQATPRSLTFSHLPVRG	5.0	4.0	unscreened	-	4180_5:79331440-79331440 C>-_VLQRWLAAGAQATPRSLTFSHLPVRG
1:32050532-32050532 C>T	0.0	4180	BREAST	-	-	ID=COSM185454;OCCURENCE=1(large_intestine)	-	TINAGL1	ENST00000271064,p.T251M|uc010ogj.2,p.T220M|NM_022164,p.T251M|uc001bta.3,p.T251M|NM_001204414,p.T220M|NM_001204415,p.T146M|ENST00000457433,p.T220M|uc021oko.1,p.T146M|uc010ogk.1,p.T251M	protein_coding, processed_transcript	uc021oko.1	nonsynonymous SNV	exon6	c.C437T	p.T146M	SDRVSIHSLGHMTPVLSPQNLLSCD	SDRVSIHSLGHMMPVLSPQNLLSCD	9.0	1.0	unscreened	-	4180_1:32050532-32050532 C>T_SDRVSIHSLGHMMPVLSPQNLLSCD
17:38547772-38547772 T>C	1.0	4180	BREAST	-	-	-	-	TOP2A	uc002huq.3,p.K1418R|NM_001067,p.K1418R|ENST00000423485,p.K1418R	retained_intron, protein_coding	uc002huq.3	nonsynonymous SNV	exon33	c.A4253G	p.K1418R	TNPVPKKNVTVKKTAAKSQSSTSTT	TNPVPKKNVTVKRTAAKSQSSTSTT	10.0	8.0	-	-	4180_17:38547772-38547772 T>C_TNPVPKKNVTVKRTAAKSQSSTSTT
17:650108-650108 G>A	0.0	4180	BREAST	-	-	ID=COSM1208087,COSM1208086;OCCURENCE=1(large_intestine)	-	GEMIN4	NM_015721,p.T392M|ENST00000576778,p.T381M|ENST00000319004,p.T392M|uc002frs.1,p.T392M	protein_coding	uc002frs.1	nonsynonymous SNV	exon2	c.C1175T	p.T392M	AECVRDFLRKTSTVLKNRALEDITA	AECVRDFLRKTSMVLKNRALEDITA	9.0	2.0	unscreened	-	4180_17:650108-650108 G>A_AECVRDFLRKTSMVLKNRALEDITA
15:52675330-52675330 T>C	1.0	4180	BREAST	-	-	-	1	MYO5A	ENST00000399233,p.Y657C|uc010uge.1,p.Y526C|uc002aby.2,p.Y657C|ENST00000356338,p.Y657C|NM_000259,p.Y657C|NM_001142495,p.Y657C|ENST00000399231,p.Y657C|ENST00000553916,p.Y657C|ENST00000358212,p.Y657C|uc002abx.3,p.Y657C	retained_intron, protein_coding, nonsense_mediated_decay	uc010uge.1	nonsynonymous SNV	exon15	c.A1577G	p.Y526C	LLMETLNATTPHYVRCIKPNDFKFP	LLMETLNATTPHCVRCIKPNDFKFP	8.0	9.0	unscreened	-	4180_15:52675330-52675330 T>C_LLMETLNATTPHCVRCIKPNDFKFP
10:89311952-89311952 A>G	1.0	4180	BREAST	-	-	-	-	MINPP1	NM_001178118,p.N193S|uc001keu.3,p.N394S|ENST00000536010,p.N193S|uc021pvv.1,p.N193S|NM_004897,p.N394S|ENST00000371996,p.N394S	protein_coding, processed_transcript	uc021pvv.1	nonsynonymous SNV	exon5	c.A578G	p.N193S	GYFKDKEPLTAYNYKKQMHRKFRSG	GYFKDKEPLTAYSYKKQMHRKFRSG	6.0	6.0	unscreened	-	4180_10:89311952-89311952 A>G_GYFKDKEPLTAYSYKKQMHRKFRSG
17:76832370-76832370 ->C	0.0	4180	BREAST	-	-	-	-	USP36	ENST00000591942,p.K26fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay	ENST00000591942	frameshift insertion	exon3	c.75dupG	p.K26fs	GRKDSADDGELGKLLASSAKKAVST	GRKDSADDGELGEASCLLCQEGSEHTYESCGDGVPAPQKVLFPTERLSL	9.0	2.0	unscreened	-	4180_17:76832370-76832370 ->C_GRKDSADDGELGEASCLLCQEGSEHTYESCGDGVPAPQKVLFPTERLSL
15:40915433-40915433 A>G	0.0	4180	BREAST	-	-	-	1	CASC5	uc010bbt.1,p.T991A|uc010bbs.1,p.T1017A|uc001zme.3,p.T991A|NM_170589,p.T1017A|NM_144508,p.T991A|ENST00000346991,p.T1017A|uc010ucq.1,p.T841A|ENST00000399668,p.T991A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ucq.1	nonsynonymous SNV	exon9	c.A2521G	p.T841A	QRKSLGTPTVICTPTEESVFFPGNG	QRKSLGTPTVICAPTEESVFFPGNG	7.0	6.0	unscreened	-	4180_15:40915433-40915433 A>G_QRKSLGTPTVICAPTEESVFFPGNG
1:172558304-172558304 C>T	1.0	4180	BREAST	-	-	-	-	SUCO	NM_016227,p.T839M|uc010pmm.1,p.T688M|uc009wwd.3,p.T644M|ENST00000367723,p.T840M|NM_001282751,p.T125M|uc010pmo.3,p.T125M|uc001giq.4,p.T688M|ENST00000263688,p.T688M|NM_014283,p.T688M	protein_coding, processed_transcript	uc010pmo.3	nonsynonymous SNV	exon16	c.C374T	p.T125M	SVLQPLSGELENTNIEREAETVVLG	SVLQPLSGELENMNIEREAETVVLG	8.0	4.0	unscreened	-	4180_1:172558304-172558304 C>T_SVLQPLSGELENMNIEREAETVVLG
16:19049316-19049316 T>C	1.0	4180	BREAST	-	-	-	-	TMC7	uc010vap.2,p.C266R|ENST00000421369,p.C266R|NM_001300732,p.C376R|uc002dfq.3,p.C376R|ENST00000569532,p.C376R|NM_024847,p.C376R|ENST00000304381,p.C376R|NM_001160364,p.C266R|uc002dfp.2,p.C376R	retained_intron, protein_coding, processed_transcript	uc010vap.2	nonsynonymous SNV	exon8	c.T796C	p.C266R	FLNCIVLAVLGACFYAIYVATVFSQ	FLNCIVLAVLGARFYAIYVATVFSQ	5.0	9.0	unscreened	-	4180_16:19049316-19049316 T>C_FLNCIVLAVLGARFYAIYVATVFSQ
9:133942376-133942376 T>-	0.0	4180	BREAST	-	-	-	-	LAMC3	NM_006059,p.F793fs|uc004caa.1,p.F793fs|ENST00000361069,p.F793fs	protein_coding, processed_transcript	uc004caa.1	frameshift deletion	exon14	c.2377delT	p.F793fs	QRGRRCEVCDDGFFGDPLGLFGHPQ	QRGRRCEVCDDGFLGTRWGSLGTPSPATSASVAGTWTPMPWATVTPCLATACAACTTPRVTTVSTVRKASTGAPWPLDPQTNACLAAVTHRARSVSRCPATQ	5.0	3.0	unscreened	-	4180_9:133942376-133942376 T>-_QRGRRCEVCDDGFLGTRWGSLGTPSPATSASVAGTWTPMPWATVTPCLATACAACTTPRVTTVSTVRKASTGAPWPLDPQTNACLAAVTHRARSVSRCPATQ
2:152980413-152980413 C>T	1.0	4180	BREAST	-	-	-	-	STAM2	uc002tyc.4,p.G406S|ENST00000263904,p.G406S|NM_005843,p.G406S	retained_intron, protein_coding, processed_transcript	uc002tyc.4	nonsynonymous SNV	exon13	c.G1216A	p.G406S	TYPVQSHGGNYMGQSIHQVTVAQSY	TYPVQSHGGNYMSQSIHQVTVAQSY	8.0	6.0	unscreened	-	4180_2:152980413-152980413 C>T_TYPVQSHGGNYMSQSIHQVTVAQSY
2:131103637-131103637 G>A	1.0	4180	BREAST	-	-	-	-	IMP4	ENST00000428740,p.S159N|uc002tra.1,p.S214N|NM_033416,p.S214N|ENST00000409649,p.S129N|ENST00000259239,p.S214N|ENST00000409935,p.S214N	retained_intron, protein_coding, nonsense_mediated_decay	uc002tra.1	nonsynonymous SNV	exon7	c.G641A	p.S214N	ILRYLFPVPKDDSHRVITFANQDDY	ILRYLFPVPKDDNHRVITFANQDDY	10.0	10.0	-	-	4180_2:131103637-131103637 G>A_ILRYLFPVPKDDNHRVITFANQDDY
5:153783713-153783713 G>A	0.0	4180	BREAST	-	-	-	-	GALNT10	ENST00000377657,p.G40D|uc010jid.3,p.G210D|ENST00000297107,p.G369D|NM_198321,p.G369D|ENST00000377661,p.G307D|uc003lvh.3,p.G369D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jid.3	nonsynonymous SNV	exon5	c.G629A	p.G210D	GGRMEDIPCSRVGHIYRKYVPYKVP	GGRMEDIPCSRVDHIYRKYVPYKVP	7.0	2.0	unscreened	-	4180_5:153783713-153783713 G>A_GGRMEDIPCSRVDHIYRKYVPYKVP
2:44116874-44116874 G>-	0.0	4180	BREAST	-	-	-	-	LRPPRC	NM_133259,p.P1376fs|uc002rtr.2,p.P1376fs|ENST00000260665,p.P1376fs	retained_intron, protein_coding	uc002rtr.2	frameshift deletion	exon37	c.4127delC	p.P1376fs	KYAGEPVPFIEPPESFEFYAQQLRK	KYAGEPVPFIEPLKALNFMHSS	10.0	4.0	unscreened	-	4180_2:44116874-44116874 G>-_KYAGEPVPFIEPLKALNFMHSS
7:151814303-151814303 G>A	1.0	4180	BREAST	-	-	-	-	GALNT11	uc011kvm.1,p.R351H|NM_022087,p.R432H|uc003wku.2,p.R432H|ENST00000430044,p.R432H|ENST00000320311,p.R432H|uc010lqg.1,p.R432H|ENST00000452146,p.R351H|uc003wkw.1,p.R180H|ENST00000434507,p.R432H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kvm.1	nonsynonymous SNV	exon8	c.G1052A	p.R351H	DLKTKSYGNISERVELRKKLGCKSF	DLKTKSYGNISEHVELRKKLGCKSF	8.0	7.0	unscreened	-	4180_7:151814303-151814303 G>A_DLKTKSYGNISEHVELRKKLGCKSF
14:55457998-55457998 A>T	1.0	4180	BREAST	-	-	-	-	WDHD1	ENST00000359167,p.C5S	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000359167	nonsynonymous SNV	exon1	c.T13A	p.C5S	MMDPCQLPGKSHFSQVL	MMDPSQLPGKSHFSQVL	7.0	9.0	unscreened	-	4180_14:55457998-55457998 A>T_MMDPSQLPGKSHFSQVL
6:31608571-31608571 G>-	0.0	4180	BREAST	-	-	ID=COSM1443308;OCCURENCE=2(large_intestine)	-	BAG6	uc011dnw.2,p.Q942fs|uc003nvi.4,p.Q942fs|uc003nvf.4,p.Q942fs|NM_001199698,p.Q942fs|ENST00000362049,p.Q942fs|ENST00000211379,p.Q942fs|ENST00000375976,p.Q942fs|ENST00000375964,p.Q948fs|uc003nvg.4,p.Q948fs|NM_004639,p.Q948fs|ENST00000404765,p.Q978fs|NM_001098534,p.Q942fs|NM_080702,p.Q942fs|uc003nvh.4,p.Q942fs|NM_080703,p.Q942fs	retained_intron, protein_coding, processed_transcript	uc011dnw.2	frameshift deletion	exon20	c.2824delC	p.Q942fs	ILRYVRRVGDPPQPLPEEPMEVQGA	ILRYVRRVGDPPSHFLRSQWKFREQKELPLSLSGRMLPQPLEQQQKRPCPEVHLLLLRGAPGMNRMELQLRQNLGQLQSPQNGSLLSSRTFRASGR	10.0	5.0	unscreened	-	4180_6:31608571-31608571 G>-_ILRYVRRVGDPPSHFLRSQWKFREQKELPLSLSGRMLPQPLEQQQKRPCPEVHLLLLRGAPGMNRMELQLRQNLGQLQSPQNGSLLSSRTFRASGR
10:89717709-89717709 A>C	1.0	4180	BREAST	-	-	-	1	PTEN	NM_000314,p.Q245P|ENST00000371953,p.Q245P|uc001kfb.3,p.Q245P	protein_coding, processed_transcript	uc001kfb.3	nonsynonymous SNV	exon7	c.A734C	p.Q245P	RREDKFMYFEFPQPLPVCGDIKVEF	RREDKFMYFEFPPPLPVCGDIKVEF	9.0	6.0	-	-	4180_10:89717709-89717709 A>C_RREDKFMYFEFPPPLPVCGDIKVEF
17:4722399-4722399 T>C	1.0	4180	BREAST	-	-	-	-	PLD2	ENST00000576983,p.Y131H|uc002fzc.3,p.Y732H|uc002fzd.3,p.Y732H|ENST00000572940,p.Y732H|NM_001243108,p.Y732H|ENST00000263088,p.Y732H|NM_002663,p.Y732H	retained_intron, protein_coding, nonsense_mediated_decay	uc002fzd.3	nonsynonymous SNV	exon22	c.T2194C	p.Y732H	RLKAAMGTAWRDYISICGLRTHGEL	RLKAAMGTAWRDHISICGLRTHGEL	9.0	6.0	unscreened	-	4180_17:4722399-4722399 T>C_RLKAAMGTAWRDHISICGLRTHGEL
1:10163062-10163062 G>T	0.0	4180	BREAST	-	-	-	-	UBE4B	ENST00000377157,p.K48N|uc021ogc.1,p.K164N|NM_001105562,p.K164N|NM_006048,p.K164N|uc001aqr.4,p.K164N|ENST00000343090,p.K164N|ENST00000253251,p.K164N|uc001aqs.4,p.K164N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ogc.1	nonsynonymous SNV	exon5	c.G492T	p.K164N	EVSEEQALQLVCKIFRVSWKDRDRD	EVSEEQALQLVCNIFRVSWKDRDRD	8.0	3.0	unscreened	-	4180_1:10163062-10163062 G>T_EVSEEQALQLVCNIFRVSWKDRDRD
12:7188165-7188165 C>A	1.0	4180	BREAST	-	-	-	-	C1R	ENST00000542285,p.G545W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000542285	nonsynonymous SNV	exon11	c.G1633T	p.G545W	YDLGLMGYVSGFGVMEEKIAHDLRF	YDLGLMGYVSGFWVMEEKIAHDLRF	10.0	6.0	-	-	4180_12:7188165-7188165 C>A_YDLGLMGYVSGFWVMEEKIAHDLRF
19:35232345-35232345 A>G	0.0	4180	BREAST	-	-	-	-	ZNF181	uc002nvu.3,p.I353M|NM_001029997,p.I353M|NM_001145665,p.I352M|uc010xsb.1,p.I352M|ENST00000459757,p.I352M|uc010xsc.1,p.I288M|ENST00000492450,p.I353M|ENST00000392232,p.I397M	retained_intron, protein_coding	uc010xsc.1	nonsynonymous SNV	exon3	c.A864G	p.I288M	RIHTQEKLYECRICGKAFIHRSSLI	RIHTQEKLYECRMCGKAFIHRSSLI	6.0	1.0	unscreened	-	4180_19:35232345-35232345 A>G_RIHTQEKLYECRMCGKAFIHRSSLI
13:111117831-111117831 ->C	0.0	4180	BREAST	-	-	-	-	COL4A2	ENST00000360467,p.G619fs|uc001vqx.3,p.G619fs|NM_001846,p.G619fs	protein_coding, processed_transcript	uc001vqx.3	frameshift insertion	exon25	c.1857dupC	p.G619fs	GIPGTKGTPGEMGPPGLGLPGLKGQ	GIPGTKGTPGEMGPPRTGPSRPQRPTWFPWRRRLTWTTRLPGPSWPRRDPRTNRL	10.0	5.0	unscreened	-	4180_13:111117831-111117831 ->C_GIPGTKGTPGEMGPPRTGPSRPQRPTWFPWRRRLTWTTRLPGPSWPRRDPRTNRL
13:111287118-111287118 G>A	0.0	4180	BREAST	-	-	-	-	CARKD	ENST00000458711,p.A85T|ENST00000309957,p.A216T|uc010tjj.2,p.A198T|NM_001242883,p.A106T|uc001vrc.3,p.A216T|uc001vrb.3,p.A216T|NM_018210,p.A216T|NM_001242882,p.A198T|NM_001242881,p.A216T|uc010tjk.2,p.A106T|ENST00000424185,p.A106T|uc010tjl.2,p.A85T	protein_coding, processed_transcript	uc010tjl.2	nonsynonymous SNV	exon3	c.G253A	p.A85T	TPNHVEFSRLYDAVLRGPMDSDDSH	TPNHVEFSRLYDTVLRGPMDSDDSH	8.0	1.0	unscreened	-	4180_13:111287118-111287118 G>A_TPNHVEFSRLYDTVLRGPMDSDDSH
19:57910259-57910259 T>C	0.0	4180	BREAST	-	-	-	-	ZNF548	uc002qom.3,p.C202R|NM_152909,p.C202R|ENST00000336128,p.C214R|NM_001172773,p.C214R|uc002qon.3,p.C214R|ENST00000366197,p.C202R	retained_intron, protein_coding, nonsense_mediated_decay	uc002qon.3	nonsynonymous SNV	exon4	c.T640C	p.C214R	FQTGQNDYKCSECGKTFTCSYSFVE	FQTGQNDYKCSERGKTFTCSYSFVE	7.0	1.0	unscreened	-	4180_19:57910259-57910259 T>C_FQTGQNDYKCSERGKTFTCSYSFVE
2:3605750-3605750 C>T	1.0	4180	BREAST	-	-	-	-	RNASEH1	NM_002936,p.G34D|ENST00000315212,p.G34D|uc002qxt.3,p.G34D	retained_intron, protein_coding, nonsense_mediated_decay	uc002qxt.3	nonsynonymous SNV	exon1	c.G101A	p.G34D	SRGFGMFYAVRRGRKTGVFLTWNEC	SRGFGMFYAVRRDRKTGVFLTWNEC	8.0	7.0	-	-	4180_2:3605750-3605750 C>T_SRGFGMFYAVRRDRKTGVFLTWNEC
19:39330958-39330958 ->G	0.0	4180	BREAST	-	-	ID=COSM1393463,COSM1393464;OCCURENCE=3(large_intestine)	-	HNRNPL	NM_001005335,p.P204fs|ENST00000221419,p.P337fs|NM_001533,p.P337fs|ENST00000600873,p.P204fs|uc021uui.1,p.P204fs|uc021uuh.1,p.P337fs	retained_intron, protein_coding, nonsense_mediated_decay	uc021uui.1	frameshift insertion	exon8	c.611dupC	p.P204fs	HSHYHDEGYGPPPPHYEGRRMGPPV	HSHYHDEGYGPPPTSLRREKDGSTSGGSPSGPKSLRPPVWAPPTPSPTTRVWPSRRQPCAHGLWLGSI	10.0	8.0	unscreened	-	4180_19:39330958-39330958 ->G_HSHYHDEGYGPPPTSLRREKDGSTSGGSPSGPKSLRPPVWAPPTPSPTTRVWPSRRQPCAHGLWLGSI
1:93169000-93169000 A>-	0.0	4180	BREAST	-	-	ID=COSM1344931;OCCURENCE=1(large_intestine)	-	EVI5	ENST00000540033,p.F216fs|ENST00000370331,p.F216fs|uc001dox.3,p.F216fs|ENST00000543509,p.F216fs|uc010otf.2,p.F216fs|NM_005665,p.F216fs	protein_coding, processed_transcript	uc010otf.2	frameshift deletion	exon4	c.648delT	p.F216fs	RDIARTYPEHNFFKEKDSLGQEVLF	RDIARTYPEHNFLRKKIALDRRFYLM	6.0	3.0	unscreened	-	4180_1:93169000-93169000 A>-_RDIARTYPEHNFLRKKIALDRRFYLM
1:225586841-225586841 G>T	0.0	4180	BREAST	-	-	-	-	DNAH14	NM_001373,p.R4473M|ENST00000439375,p.R4473M|uc001how.2,p.R4473M|ENST00000445597,p.R3465M|ENST00000430092,p.R4473M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001how.2	nonsynonymous SNV	exon84	c.G13418T	p.R4473M	YAFECPVYQTPERSRILATTGLPTN	YAFECPVYQTPEMSRILATTGLPTN	7.0	5.0	unscreened	-	4180_1:225586841-225586841 G>T_YAFECPVYQTPEMSRILATTGLPTN
5:108290522-108290522 A>-	0.0	4180	BREAST	-	-	ID=COSM1432046;OCCURENCE=2(large_intestine)	-	FER	uc003kop.1,p.L474fs|NM_005246,p.L474fs|uc031skp.1,p.L105fs|uc011cvg.1,p.L299fs|ENST00000281092,p.L474fs|ENST00000438717,p.L299fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc031skp.1	frameshift deletion	exon3	c.315delA	p.L105fs	HGAIPRIEAQELLKKQGDFLVRESH	HGAIPRIEAQELLKNKETFWCERVMGNLVNMSFLYILMDRGDILSYNMLITCIDSRALGFQTFLNL	5.0	6.0	unscreened	-	4180_5:108290522-108290522 A>-_HGAIPRIEAQELLKNKETFWCERVMGNLVNMSFLYILMDRGDILSYNMLITCIDSRALGFQTFLNL
2:37454908-37454908 T>-	1.0	4180	BREAST	-	-	ID=COSM1407973;OCCURENCE=3(large_intestine)	-	CEBPZ	uc002rpz.3,p.K476fs|ENST00000234170,p.K476fs|NM_005760,p.K476fs	retained_intron, protein_coding	uc002rpz.3	frameshift deletion	exon2	c.1428delA	p.K476fs	VYFCFFRTCVKKKDVESKMLSALLT	VYFCFFRTCVKKKMLNQKCLAPF	9.0	7.0	unscreened	-	4180_2:37454908-37454908 T>-_VYFCFFRTCVKKKMLNQKCLAPF
1:226180181-226180181 T>A	1.0	4180	BREAST	-	-	-	-	SDE2	ENST00000366817,p.E51D	protein_coding	ENST00000366817	nonsynonymous SNV	exon4	c.A153T	p.E51D	LRLRRQPIEKLVEPKHCFTSPDYQQ	LRLRRQPIEKLVDPKHCFTSPDYQQ	7.0	8.0	unscreened	-	4180_1:226180181-226180181 T>A_LRLRRQPIEKLVDPKHCFTSPDYQQ
15:81271632-81271632 ->T	1.0	4180	BREAST	-	-	-	-	MESDC2	uc002bfy.1,p.K211fs|ENST00000561312,p.K211fs|ENST00000261758,p.K211fs|NM_015154,p.K211fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc002bfy.1	frameshift insertion	exon3	c.632dupA	p.K211fs	EKNKTKQDKGKKKKEGDLKSRSSKE	EKNKTKQDKGKKKEGRRSEISVFQGRKSSWE	9.0	8.0	-	-	4180_15:81271632-81271632 ->T_EKNKTKQDKGKKKEGRRSEISVFQGRKSSWE
X:117764424-117764424 A>G	1.0	4180	BREAST	-	-	-	-	DOCK11	ENST00000276202,p.Y1286C|ENST00000276204,p.Y1286C|uc004eqq.2,p.Y1065C|uc004eqp.2,p.Y1286C|NM_144658,p.Y1286C	protein_coding, processed_transcript	uc004eqq.2	nonsynonymous SNV	exon30	c.A3194G	p.Y1065C	LDQYEIRSLLMCYLYIVKMISEDTL	LDQYEIRSLLMCCLYIVKMISEDTL	6.0	9.0	unscreened	-	4180_X:117764424-117764424 A>G_LDQYEIRSLLMCCLYIVKMISEDTL
15:74883652-74883652 G>A	1.0	4180	BREAST	-	-	-	-	ARID3B	uc002ayd.3,p.A348T|NM_006465,p.A348T|ENST00000566147,p.A107T|ENST00000346246,p.A348T|uc002aye.3,p.A348T|uc010bjs.1,p.A53T	retained_intron, protein_coding, processed_transcript	uc010bjs.1	nonsynonymous SNV	exon1	c.G157A	p.A53T	FGYSPAAATAAAAAGAPALLSPPKI	FGYSPAAATAAATAGAPALLSPPKI	6.0	10.0	unscreened	-	4180_15:74883652-74883652 G>A_FGYSPAAATAAATAGAPALLSPPKI
21:34924049-34924049 A>T	0.0	4180	BREAST	-	-	-	-	SON	ENST00000381679,p.T838S|uc002ysc.3,p.T838S|NM_001291411,p.T838S|NM_032195,p.T838S|ENST00000300278,p.T838S|ENST00000290239,p.T838S|uc021win.1,p.T484S|NM_138927,p.T838S|uc002yse.1,p.T838S|ENST00000455528,p.T838S|uc002ysb.1,p.T838S|ENST00000356577,p.T838S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021win.1	nonsynonymous SNV	exon1	c.A1450T	p.T484S	LATSSMDSQMLATSTMDSQMLATST	LATSSMDSQMLASSTMDSQMLATST	10.0	7.0	unscreened	-	4180_21:34924049-34924049 A>T_LATSSMDSQMLASSTMDSQMLATST
X:56591874-56591874 C>-	0.0	4180	BREAST	-	-	ID=COSM267718;OCCURENCE=2(stomach),2(large_intestine)	-	UBQLN2	uc004dus.3,p.A523fs|ENST00000338222,p.A523fs|NM_013444,p.A523fs	protein_coding	uc004dus.3	frameshift deletion	exon1	c.1568delC	p.A523fs	GPIGPIGPTGPAAPPGSTGSGGPTG	GPIGPIGPTGPAAPLAPPALVAPRGLLCPALHLVKPRVLHQNLDPTSSSFSKWCRPWLEQMLHSCRIQKSDFSNNWNSSTQWGS	7.0	6.0	unscreened	-	4180_X:56591874-56591874 C>-_GPIGPIGPTGPAAPLAPPALVAPRGLLCPALHLVKPRVLHQNLDPTSSSFSKWCRPWLEQMLHSCRIQKSDFSNNWNSSTQWGS
6:21595634-21595636 AGA>-	0.0	4180	BREAST	-	-	-	-	SOX4	ENST00000244745,p.290_291del|ENST00000543472,p.290_291del|NM_003107,p.290_291del|uc003ndi.3,p.290_291del	protein_coding	uc003ndi.3	nonframeshift deletion	exon1	c.869_871del	p.290_291del	SAALAAPGKHLAEKKVKRVYLFGGL	SAALAAPGKHLAEKVKRVYLFGGLG	9.0	4.0	unscreened	-	4180_6:21595634-21595636 AGA>-_SAALAAPGKHLAEKVKRVYLFGGLG
1:247024567-247024567 T>C	0.0	4180	BREAST	-	-	-	-	AHCTF1	uc001ibv.2,p.T1265A|ENST00000326225,p.T1265A|uc009xgs.1,p.T117A|NM_015446,p.T1265A|ENST00000391829,p.T1256A|ENST00000366508,p.T1291A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009xgs.1	nonsynonymous SNV	exon20	c.A349G	p.T117A	PGAADDSKLEVFTTPKKCAVPVETE	PGAADDSKLEVFATPKKCAVPVETE	9.0	2.0	unscreened	-	4180_1:247024567-247024567 T>C_PGAADDSKLEVFATPKKCAVPVETE
1:156524160-156524160 C>T	0.0	4180	BREAST	-	-	-	-	IQGAP3	ENST00000491900,p.V396M|NM_178229,p.V439M|ENST00000361170,p.V439M|uc009wsb.1,p.V396M|uc001fpf.3,p.V439M	protein_coding, processed_transcript, nonsense_mediated_decay	uc009wsb.1	nonsynonymous SNV	exon12	c.G1186A	p.V396M	QQQGELGQEELFVAVEMLSAVVLIN	QQQGELGQEELFMAVEMLSAVVLIN	9.0	5.0	unscreened	-	4180_1:156524160-156524160 C>T_QQQGELGQEELFMAVEMLSAVVLIN
1:198676069-198676069 G>A	0.0	4180	BREAST	-	-	-	1	PTPRC	ENST00000594404,p.D135N|uc021pgy.2,p.D250N|ENST00000529828,p.D250N|ENST00000348564,p.D137N|ENST00000352140,p.D248N|ENST00000367376,p.D296N|ENST00000530727,p.D184N|ENST00000442510,p.D298N|uc010ppg.2,p.D232N|NM_002838,p.D298N|NM_080921,p.D137N|uc001gut.2,p.D137N|ENST00000367367,p.D232N|uc001gur.2,p.D298N|uc009wzf.2,p.D184N	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc021pgy.2	nonsynonymous SNV	exon8	c.G748A	p.D250N	NSCTAPDKTLILDVPPGVEKFQLHD	NSCTAPDKTLILNVPPGVEKFQLHD	9.0	7.0	unscreened	-	4180_1:198676069-198676069 G>A_NSCTAPDKTLILNVPPGVEKFQLHD
15:31222794-31222794 C>T	0.0	4180	BREAST	-	-	-	-	FAN1	ENST00000362065,p.H946Y|uc001zff.3,p.H946Y|uc001zfe.3,p.H551Y|NM_014967,p.H946Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zff.3	nonsynonymous SNV	exon13	c.C2836T	p.H946Y	CLGGPVLSGVCRHLAADFRHCRGGL	CLGGPVLSGVCRYLAADFRHCRGGL	6.0	3.0	unscreened	-	4180_15:31222794-31222794 C>T_CLGGPVLSGVCRYLAADFRHCRGGL
11:58317483-58317483 ->A	0.0	4180	BREAST	-	-	-	-	LPXN	ENST00000395074,p.S208fs|NM_004811,p.S208fs|uc010rkk.2,p.S188fs|ENST00000528489,p.S188fs|uc001nmw.3,p.S208fs|uc010rkj.2,p.S213fs|NM_001143995,p.S213fs|uc009ymp.3,p.S78fs|ENST00000528954,p.S213fs	retained_intron, protein_coding, nonsense_mediated_decay	uc010rkk.2	frameshift insertion	exon5	c.562dupT	p.S188fs	LAYCPNDYHQLFSPRCAYCAAPILD	LAYCPNDYHQLFFSTLCLLRCSHPG	9.0	8.0	unscreened	-	4180_11:58317483-58317483 ->A_LAYCPNDYHQLFFSTLCLLRCSHPG
12:27081820-27081820 C>T	1.0	4180	BREAST	-	-	ID=COSM938319;OCCURENCE=1(endometrium)	-	ASUN	ENST00000544548,p.A107T|uc001rhk.4,p.A107T|NM_018164,p.A107T|ENST00000537336,p.A107T|ENST00000261191,p.A107T	retained_intron, protein_coding	uc001rhk.4	nonsynonymous SNV	exon4	c.G319A	p.A107T	DQNLQELMAALAAVGPPNPRADPEC	DQNLQELMAALATVGPPNPRADPEC	9.0	9.0	unscreened	-	4180_12:27081820-27081820 C>T_DQNLQELMAALATVGPPNPRADPEC
1:160327011-160327011 C>T	1.0	4180	BREAST	-	-	-	-	NCSTN	uc010pjf.2,p.R521W|ENST00000368065,p.R401W|NM_001290186,p.R521W|NM_001290184,p.R639W|ENST00000294785,p.R659W|ENST00000392212,p.R639W|ENST00000368063,p.R639W|uc010pjg.2,p.R401W|uc001fvy.3,p.R639W|uc001fvx.3,p.R659W|NM_015331,p.R659W|ENST00000535857,p.R521W	protein_coding, processed_transcript	uc010pjg.2	nonsynonymous SNV	exon11	c.C1201T	p.R401W	TWTESRWKDIRARIFLIASKELELI	TWTESRWKDIRAWIFLIASKELELI	10.0	3.0	unscreened	-	4180_1:160327011-160327011 C>T_TWTESRWKDIRAWIFLIASKELELI
17:35913996-35913996 T>G	1.0	4180	BREAST	-	-	-	-	SYNRG	NM_001163545,p.N531T|ENST00000591288,p.N449T|uc002hob.3,p.N610T|uc010wde.2,p.N532T|NM_001163544,p.N532T|uc010cvd.1,p.N410T|ENST00000502449,p.N532T|NM_198882,p.N532T|ENST00000346661,p.N610T|uc002hof.3,p.N322T|uc002hod.3,p.N532T|NM_007247,p.N610T|uc010wdf.2,p.N532T|NM_001163546,p.N532T|uc010wdg.2,p.N449T|uc002hoa.3,p.N610T|uc002hoc.3,p.N531T|NM_080550,p.N532T|uc002hoe.3,p.N532T|ENST00000339208,p.N610T|NM_001163547,p.N449T|ENST00000345615,p.N532T|ENST00000585472,p.N531T|ENST00000394378,p.N532T	retained_intron, protein_coding, processed_transcript	uc010wdg.2	nonsynonymous SNV	exon12	c.A1346C	p.N449T	GTIQQKQQTQVKNPLNLADLDMFSS	GTIQQKQQTQVKTPLNLADLDMFSS	7.0	9.0	unscreened	-	4180_17:35913996-35913996 T>G_GTIQQKQQTQVKTPLNLADLDMFSS
2:189921735-189921735 T>-	0.0	4180	BREAST	-	-	-	-	COL5A2	NM_000393,p.K785fs|uc010frx.3,p.K361fs|ENST00000374866,p.K785fs|uc002uqk.3,p.K785fs	retained_intron, protein_coding	uc010frx.3	frameshift deletion	exon19	c.1083delA	p.K361fs	PGPKGDRGGIGEKGAEGTAGNDGAR	PGPKGDRGGIGEKVLKAQLEMMVQEVFQVLWALQVRQVLLEKRVNLVLEV	7.0	3.0	unscreened	-	4180_2:189921735-189921735 T>-_PGPKGDRGGIGEKVLKAQLEMMVQEVFQVLWALQVRQVLLEKRVNLVLEV
13:76381974-76381974 G>A	0.0	4180	BREAST	-	-	-	-	LMO7	ENST00000357063,p.V571I|ENST00000377534,p.V571I|uc001vjw.1,p.V192I|NM_015842,p.V286I|uc021rkq.1,p.V519I|ENST00000465261,p.V286I|ENST00000321797,p.V286I|uc001vjv.3,p.V286I	retained_intron, protein_coding, processed_transcript	uc021rkq.1	nonsynonymous SNV	exon10	c.G1555A	p.V519I	LVLPDLEKDDMIVRRIPAQKKEVPL	LVLPDLEKDDMIIRRIPAQKKEVPL	9.0	9.0	unscreened	-	4180_13:76381974-76381974 G>A_LVLPDLEKDDMIIRRIPAQKKEVPL
11:76909653-76909653 G>A	0.0	4180	BREAST	-	-	-	-	MYO7A	uc001oyc.2,p.V1519M|ENST00000458637,p.V1519M|ENST00000409619,p.V1508M|uc010rsm.1,p.V1508M|ENST00000458169,p.V700M|NM_001127180,p.V1519M|uc009yut.1,p.V730M	retained_intron, protein_coding, processed_transcript	uc010rsm.1	nonsynonymous SNV	exon35	c.G4522A	p.V1508M	VLLELSFPEIMAVSSSRGAKTTAPS	VLLELSFPEIMAMSSSRGAKTTAPS	6.0	5.0	unscreened	-	4180_11:76909653-76909653 G>A_VLLELSFPEIMAMSSSRGAKTTAPS
1:2066786-2066786 G>T	0.0	4180	BREAST	-	-	-	-	PRKCZ	uc010nyw.2,p.R36S|ENST00000461106,p.R36S|NM_001242874,p.R36S|uc001aiq.3,p.R140S|ENST00000468310,p.R110S|NM_002744,p.R140S|ENST00000378567,p.R140S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010nyw.2	nonsynonymous SNV	exon2	c.G108T	p.R36S	ANGHLFQAKRFNRRAYCGQCSERIW	ANGHLFQAKRFNSRAYCGQCSERIW	8.0	2.0	unscreened	-	4180_1:2066786-2066786 G>T_ANGHLFQAKRFNSRAYCGQCSERIW
11:76909653-76909653 G>A	0.0	4180	BREAST	-	-	-	-	MYO7A	uc001oyb.2,p.V1519M|ENST00000409709,p.V1519M|NM_000260,p.V1519M	retained_intron, protein_coding, processed_transcript	uc001oyb.2	nonsynonymous SNV	exon34	c.G4555A	p.V1519M	VLLELSFPEIMAVSSSRECRVWLSL	VLLELSFPEIMAMSSSRECRVWLSL	6.0	5.0	unscreened	-	4180_11:76909653-76909653 G>A_VLLELSFPEIMAMSSSRECRVWLSL
3:50357436-50357436 C>T	1.0	4180	BREAST	-	-	-	-	HYAL2	ENST00000357750,p.R162H|ENST00000447092,p.R162H|uc003czw.3,p.R162H|NM_003773,p.R162H|ENST00000395139,p.R162H|NM_033158,p.R162H|ENST00000442581,p.R162H|uc003czx.3,p.R162H|uc010hlj.2,p.R162H|uc003czv.3,p.R162H	retained_intron, protein_coding	uc010hlj.2	nonsynonymous SNV	exon2	c.G485A	p.R162H	VYRRLSRQLVASRHPDWPPDRIVKQ	VYRRLSRQLVASHHPDWPPDRIVKQ	9.0	10.0	unscreened	-	4180_3:50357436-50357436 C>T_VYRRLSRQLVASHHPDWPPDRIVKQ
14:31570489-31570489 G>A	0.0	4180	BREAST	-	-	-	-	HECTD1	uc001wrc.1,p.S2531F|ENST00000553700,p.S2531F|ENST00000399332,p.S2531F|NM_015382,p.S2531F|uc001wra.1,p.S657F|uc001wrb.1,p.S657F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wrc.1	nonsynonymous SNV	exon42	c.C7592T	p.S2531F	GFLRFVRVLCGMSSDERKAFLQFTT	GFLRFVRVLCGMFSDERKAFLQFTT	9.0	4.0	unscreened	-	4180_14:31570489-31570489 G>A_GFLRFVRVLCGMFSDERKAFLQFTT
1:32796219-32796219 T>C	0.0	4180	BREAST	-	-	-	-	HDAC1	ENST00000373548,p.V257A|NM_004964,p.V257A|ENST00000373541,p.V64A|uc001bvb.1,p.V257A|uc001bvc.1,p.V13A|uc010ohf.1,p.V228A	protein_coding, processed_transcript	uc010ohf.1	nonsynonymous SNV	exon8	c.T683C	p.V228A	MSKVMEMFQPSAVVLQCGSDSLSGD	MSKVMEMFQPSAAVLQCGSDSLSGD	8.0	9.0	unscreened	-	4180_1:32796219-32796219 T>C_MSKVMEMFQPSAAVLQCGSDSLSGD
10:7318902-7318902 T>-	0.0	4180	BREAST	-	-	-	-	SFMBT2	uc010qay.2,p.K274fs|NM_001018039,p.K274fs|ENST00000397167,p.K274fs|ENST00000361972,p.K274fs|uc001ijn.2,p.K274fs|uc009xio.2,p.K274fs|NM_001029880,p.K274fs	protein_coding	uc010qay.2	frameshift deletion	exon7	c.822delA	p.K274fs	LKMASEWKCTLEKSLIDAAKFPLPM	LKMASEWKCTLENPLLMLPNFLFQWKCLRITQICEAISSQLG	6.0	1.0	unscreened	-	4180_10:7318902-7318902 T>-_LKMASEWKCTLENPLLMLPNFLFQWKCLRITQICEAISSQLG
X:37312611-37312611 C>-	0.0	4180	BREAST	-	-	ID=COSM253071;OCCURENCE=4(large_intestine),1(ovary),1(NS)	-	PRRG1	uc004ddo.3,p.P132fs|ENST00000449135,p.P132fs|ENST00000378628,p.P132fs|NM_001173490,p.P132fs|ENST00000542554,p.P132fs|uc022buu.1,p.P132fs|ENST00000543642,p.P132fs|NM_001173489,p.P132fs|uc004ddn.3,p.P132fs|uc022buv.1,p.P132fs|NM_001142395,p.P132fs|NM_000950,p.P132fs	retained_intron, protein_coding, processed_transcript	uc022buv.1	frameshift deletion	exon4	c.394delC	p.P132fs	IPFPQHLNIITPPPPPDEVFDSSGL	IPFPQHLNIITPPPHQMKCLTAVDCLQAFWDM	8.0	5.0	unscreened	-	4180_X:37312611-37312611 C>-_IPFPQHLNIITPPPHQMKCLTAVDCLQAFWDM
18:252542-252542 G>A	0.0	4180	BREAST	-	-	ID=COSM172322;OCCURENCE=1(large_intestine)	-	THOC1	ENST00000261600,p.T225M|uc002kkl.2,p.T225M|NM_005131,p.T225M|uc002kkj.4,p.T225M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kkl.2	nonsynonymous SNV	exon9	c.C674T	p.T225M	EEGEMGDEEAPTTCSIPIDYNLYRK	EEGEMGDEEAPTMCSIPIDYNLYRK	9.0	1.0	unscreened	-	4180_18:252542-252542 G>A_EEGEMGDEEAPTMCSIPIDYNLYRK
17:73745050-73745050 C>-	0.0	4180	BREAST	-	-	-	-	ITGB4	ENST00000450894,p.H1080fs|ENST00000449880,p.H1080fs|ENST00000200181,p.H1080fs|uc002jpj.3,p.H1080fs|ENST00000339591,p.H1080fs|uc002jpi.4,p.H1080fs|NM_001005731,p.H1080fs|ENST00000579662,p.H1080fs|uc002jpg.3,p.H1080fs|uc002jph.3,p.H1080fs|NM_000213,p.H1080fs|NM_001005619,p.H1080fs	retained_intron, protein_coding, processed_transcript	uc002jpj.3	frameshift deletion	exon26	c.3240delC	p.H1080fs	DSLLRGRQVRRFHVQLSNPKFGAHL	DSLLRGRQVRRFQSSSATLSLGPTWASPTPPPSSSGTQMNWTGASRVRCCHHSHPLTATWAPRRTPMLRPLGPGRSISTGCPLLASQWGTG	10.0	7.0	unscreened	-	4180_17:73745050-73745050 C>-_DSLLRGRQVRRFQSSSATLSLGPTWASPTPPPSSSGTQMNWTGASRVRCCHHSHPLTATWAPRRTPMLRPLGPGRSISTGCPLLASQWGTG
21:43519263-43519263 G>A	0.0	4180	BREAST	-	-	-	-	UMODL1	NM_001199528,p.V315I|uc002zag.1,p.V387I|uc010goz.1,p.V132I|ENST00000400424,p.V315I|NM_001004416,p.V387I|uc002zae.1,p.V315I|ENST00000400427,p.V315I|uc002zad.1,p.V315I|uc002zaf.1,p.V387I|ENST00000408989,p.V387I|ENST00000408910,p.V387I|NM_001199527,p.V315I|NM_173568,p.V387I|uc010goy.1,p.V38I|uc010gow.1,p.V179I	protein_coding, processed_transcript, nonsense_mediated_decay	uc010goz.1	nonsynonymous SNV	exon3	c.G394A	p.V132I	RVKTSYQGCGADVSTTLTIKTNAQV	RVKTSYQGCGADISTTLTIKTNAQV	9.0	1.0	unscreened	-	4180_21:43519263-43519263 G>A_RVKTSYQGCGADISTTLTIKTNAQV
8:144652165-144652165 C>T	0.0	4180	BREAST	-	-	-	-	MROH6	ENST00000529971,p.R384H|uc010mfg.1,p.R384H	retained_intron, protein_coding, processed_transcript	uc010mfg.1	nonsynonymous SNV	exon7	c.G1151A	p.R384H	RPLRRLAPSASQRGRPAASHGYGLL	RPLRRLAPSASQHGRPAASHGYGLL	7.0	8.0	unscreened	-	4180_8:144652165-144652165 C>T_RPLRRLAPSASQHGRPAASHGYGLL
20:40049352-40049352 T>G	0.0	4180	BREAST	-	-	-	-	CHD6	uc002xka.1,p.I1975L|NM_032221,p.I1975L|ENST00000373233,p.I1975L	protein_coding, processed_transcript	uc002xka.1	nonsynonymous SNV	exon31	c.A5923C	p.I1975L	YIPDLFKSKTNTIAMEGEPTAIPSQ	YIPDLFKSKTNTLAMEGEPTAIPSQ	8.0	7.0	unscreened	-	4180_20:40049352-40049352 T>G_YIPDLFKSKTNTLAMEGEPTAIPSQ
19:46289531-46289531 G>A	1.0	4180	BREAST	-	-	-	-	DMWD	uc021uwc.1,p.R62W	retained_intron, protein_coding, processed_transcript	uc021uwc.1	nonsynonymous SNV	exon1	c.C184T	p.R62W	GAAKRRRRSPRLRAQARPGAPRSLH	GAAKRRRRSPRLWAQARPGAPRSLH	8.0	3.0	unscreened	-	4180_19:46289531-46289531 G>A_GAAKRRRRSPRLWAQARPGAPRSLH
1:167663409-167663409 T>C	0.0	4180	BREAST	-	-	-	-	RCSD1	uc010pli.2,p.V85A|ENST00000361496,p.V91A|ENST00000367854,p.V115A|uc001gem.3,p.V115A|NM_052862,p.V115A|ENST00000537350,p.V85A	protein_coding, processed_transcript	uc010pli.2	nonsynonymous SNV	exon4	c.T254C	p.V85A	GASPKSPGLKAMVSPFHSPPSTPSS	GASPKSPGLKAMASPFHSPPSTPSS	8.0	1.0	unscreened	-	4180_1:167663409-167663409 T>C_GASPKSPGLKAMASPFHSPPSTPSS
17:8077849-8077849 A>-	0.0	4180	BREAST	-	-	-	-	TMEM107	uc002gkh.4,p.F120fs|ENST00000316425,p.F120fs|NM_183065,p.F114fs|NM_032354,p.F120fs|ENST00000437139,p.F114fs|uc002gkg.4,p.F114fs	retained_intron, protein_coding	uc002gkh.4	frameshift deletion	exon4	c.360delT	p.F120fs	FERWECTTYWYIFVFCSALPAVTEM	FERWECTTYWYILSSAVPFQLSLKWLYSSPSLG	8.0	6.0	unscreened	-	4180_17:8077849-8077849 A>-_FERWECTTYWYILSSAVPFQLSLKWLYSSPSLG
10:6154312-6154312 G>A	1.0	4180	BREAST	-	-	ID=COSM179406;OCCURENCE=2(large_intestine)	-	RBM17	ENST00000446108,p.A282T|uc010qav.2,p.A282T|NM_032905,p.A282T|uc001ijb.3,p.A282T|NM_001145547,p.A282T|ENST00000379888,p.A282T	protein_coding, processed_transcript	uc010qav.2	nonsynonymous SNV	exon8	c.G844A	p.A282T	TSKRGGKIIVGDATEKDASKKSDSN	TSKRGGKIIVGDTTEKDASKKSDSN	10.0	7.0	-	-	4180_10:6154312-6154312 G>A_TSKRGGKIIVGDTTEKDASKKSDSN
6:84896233-84896233 A>-	0.0	4180	BREAST	-	-	ID=COSM1446210;OCCURENCE=1(NS),11(large_intestine)	-	CEP162	NM_001286206,p.F330fs|uc003pkk.2,p.F406fs|uc003pkj.4,p.F330fs|ENST00000257766,p.F330fs|NM_014895,p.F406fs|ENST00000403245,p.F406fs|uc010kbp.3,p.F406fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kbp.3	frameshift deletion	exon12	c.1218delT	p.F406fs	ILSQDSQHVNLFFDKNDENVILQKT	ILSQDSQHVNLFLTKMMRM	6.0	7.0	unscreened	-	4180_6:84896233-84896233 A>-_ILSQDSQHVNLFLTKMMRM
21:39755819-39755819 A>G	0.0	4180	BREAST	-	-	-	1	ERG	NM_001136155,p.F224L|ENST00000398919,p.F323L|ENST00000288319,p.F316L|ENST00000417133,p.F323L|uc010gnx.3,p.F299L|uc010gnw.3,p.F323L|ENST00000453032,p.F224L|ENST00000398905,p.F292L|NM_001243429,p.F200L|uc011ael.2,p.F323L|NM_001243428,p.F323L|ENST00000442448,p.F299L|ENST00000398910,p.F300L|uc010gnv.3,p.F200L|ENST00000398911,p.F299L|NM_004449,p.F299L|NM_182918,p.F316L|NM_001136154,p.F323L|ENST00000398897,p.F200L|ENST00000398907,p.F293L|uc002yxb.3,p.F299L|uc011aek.2,p.F224L|uc002yxa.3,p.F316L	retained_intron, protein_coding, processed_transcript	uc011ael.2	nonsynonymous SNV	exon12	c.T967C	p.F323L	ANPGSGQIQLWQFLLELLSDSSNSS	ANPGSGQIQLWQLLLELLSDSSNSS	6.0	10.0	unscreened	-	4180_21:39755819-39755819 A>G_ANPGSGQIQLWQLLLELLSDSSNSS
4:38798168-38798168 T>-	0.0	4180	BREAST	-	-	-	-	TLR1	uc003gtl.3,p.K762fs|uc021xnn.1,p.K762fs|ENST00000308979,p.K762fs|NM_003263,p.K762fs|ENST00000502213,p.K762fs	protein_coding, processed_transcript	uc021xnn.1	frameshift deletion	exon1	c.2285delA	p.K762fs	MARRTYLEWPKEKSKRGLFWANLRA	MARRTYLEWPKERANVAFFGLT	7.0	4.0	unscreened	-	4180_4:38798168-38798168 T>-_MARRTYLEWPKERANVAFFGLT
10:102763502-102763502 C>T	0.0	4180	BREAST	-	-	-	-	LZTS2	uc001ksl.3,p.T216M|NM_032429,p.T216M|uc001ksj.3,p.T216M|uc010qpw.2,p.T216M|ENST00000426584,p.T216M|ENST00000370223,p.T216M|uc001ksk.3,p.T216M|ENST00000370220,p.T216M	protein_coding, processed_transcript	uc010qpw.2	nonsynonymous SNV	exon3	c.C647T	p.T216M	AFSGWASGCPSGTLSDSGRNSLSSL	AFSGWASGCPSGMLSDSGRNSLSSL	9.0	1.0	unscreened	-	4180_10:102763502-102763502 C>T_AFSGWASGCPSGMLSDSGRNSLSSL
3:196876651-196876651 A>T	1.0	4180	BREAST	-	-	-	-	DLG1	NM_004087,p.V200E|ENST00000448528,p.V200E|ENST00000419354,p.V200E|uc010ial.3,p.V200E|uc003fxn.4,p.V200E|uc003fxo.4,p.V200E|NM_001290983,p.V200E|ENST00000392381,p.V200E|NM_001098424,p.V200E|ENST00000346964,p.V200E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ial.3	nonsynonymous SNV	exon7	c.T599A	p.V200E	ILPTIPQANPPPVLVNTDSLETPTY	ILPTIPQANPPPELVNTDSLETPTY	9.0	9.0	unscreened	-	4180_3:196876651-196876651 A>T_ILPTIPQANPPPELVNTDSLETPTY
16:47117327-47117327 G>T	1.0	4180	BREAST	-	-	-	-	NETO2	ENST00000562435,p.F461L|NM_001201477,p.F454L|uc002eeq.2,p.F196L|uc010vgf.2,p.F454L|ENST00000303155,p.F454L|NM_018092,p.F461L|uc002eer.2,p.F461L	protein_coding	uc010vgf.2	nonsynonymous SNV	exon9	c.C1362A	p.F454L	QSRTNLSSMELPFRNDFAQPQPMKT	QSRTNLSSMELPLRNDFAQPQPMKT	6.0	10.0	unscreened	-	4180_16:47117327-47117327 G>T_QSRTNLSSMELPLRNDFAQPQPMKT
22:30228238-30228238 G>A	0.0	4180	BREAST	0.0037	-	-	-	ASCC2	ENST00000458594,p.A26V|ENST00000454854,p.A26V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000458594	nonsynonymous SNV	exon2	c.C77T	p.A26V	KDPKTGKLRTSPALICTCNSMIQI	KDPKTGKLRTSPVLICTCNSMIQI	9.0	2.0	unscreened	-	4180_22:30228238-30228238 G>A_KDPKTGKLRTSPVLICTCNSMIQI
11:71907135-71907135 G>C	0.0	4180	BREAST	-	-	-	-	FOLR1	ENST00000393676,p.A230P|NM_016725,p.A230P|ENST00000312293,p.A230P|NM_016729,p.A230P|uc001osb.2,p.A230P|ENST00000393681,p.A230P|NM_000802,p.A230P|uc001osd.2,p.A230P|ENST00000393679,p.A230P|uc001osa.2,p.A230P|NM_016724,p.A230P|uc001orz.2,p.A230P	protein_coding	uc001osd.2	nonsynonymous SNV	exon4	c.G688C	p.A230P	QGNPNEEVARFYAAAMSGAGPWAAW	QGNPNEEVARFYPAAMSGAGPWAAW	7.0	8.0	unscreened	-	4180_11:71907135-71907135 G>C_QGNPNEEVARFYPAAMSGAGPWAAW
1:8074217-8074217 G>A	0.0	4180	BREAST	-	-	-	-	ERRFI1	ENST00000377482,p.R148W|uc001apa.1,p.R73W|NM_018948,p.R148W|uc001aoz.3,p.R148W	protein_coding, nonsense_mediated_decay	uc001apa.1	nonsynonymous SNV	exon2	c.C217T	p.R73W	SPSLFPCAPLCERGSRPLPPLPISE	SPSLFPCAPLCEWGSRPLPPLPISE	8.0	2.0	unscreened	-	4180_1:8074217-8074217 G>A_SPSLFPCAPLCEWGSRPLPPLPISE
19:45858086-45858086 G>T	1.0	4180	BREAST	-	-	-	1	ERCC2	ENST00000391941,p.L499I|ENST00000391945,p.L523I|uc010ejz.2,p.L445I|uc002pbi.2,p.L216I|uc002pbj.2,p.L523I|NM_000400,p.L523I|uc002pbk.2,p.L499I|uc002pbh.2,p.L86I|ENST00000391944,p.L445I	retained_intron, protein_coding, nonsense_mediated_decay	uc010ejz.2	nonsynonymous SNV	exon15	c.C1333A	p.L445I	REDIAVIRNYGNLLLEMSAVVPDGI	REDIAVIRNYGNILLEMSAVVPDGI	8.0	5.0	unscreened	-	4180_19:45858086-45858086 G>T_REDIAVIRNYGNILLEMSAVVPDGI
2:128699612-128699612 ->T	1.0	4180	BREAST	-	-	-	-	SAP130	NM_001145928,p.V1074fs|uc010fmd.2,p.V1074fs|ENST00000357702,p.V1074fs|uc002tpp.2,p.V1039fs|ENST00000259234,p.V1047fs|NM_024545,p.V1039fs|ENST00000259235,p.V1039fs|uc002tpn.2,p.V799fs	protein_coding	uc010fmd.2	frameshift insertion	exon21	c.3219dupA	p.V1074fs	LKLLNKNGTVKKVSKLKRKEKV	LKLLNKNGTVKKSVQIEAKGKSL	7.0	10.0	unscreened	-	4180_2:128699612-128699612 ->T_LKLLNKNGTVKKSVQIEAKGKSL
12:109539756-109539756 C>T	1.0	4180	BREAST	-	-	-	-	UNG	ENST00000336865,p.A153V|NM_080911,p.A162V|uc001toa.2,p.A153V|ENST00000242576,p.A162V|uc001tnz.2,p.A162V|NM_003362,p.A153V|ENST00000539287,p.A153V	retained_intron, protein_coding, nonsense_mediated_decay	uc001toa.2	nonsynonymous SNV	exon3	c.C458T	p.A153V	ILGQDPYHGPNQAHGLCFSVQRPVP	ILGQDPYHGPNQVHGLCFSVQRPVP	9.0	8.0	unscreened	-	4180_12:109539756-109539756 C>T_ILGQDPYHGPNQVHGLCFSVQRPVP
6:31608571-31608571 G>-	0.0	4180	BREAST	-	-	ID=COSM1443308;OCCURENCE=2(large_intestine)	-	BAG6	NM_001199697,p.Q816fs|ENST00000439687,p.Q816fs|uc011dnx.2,p.Q816fs	retained_intron, protein_coding, processed_transcript	uc011dnx.2	frameshift deletion	exon20	c.2446delC	p.Q816fs	ILRYVRRVGDPPQPLPEEPMEVQGA	ILRYVRRVGDPPSHFLRSQWKFREQKELPLSLRNGSLLSSRTFRASGR	10.0	5.0	unscreened	-	4180_6:31608571-31608571 G>-_ILRYVRRVGDPPSHFLRSQWKFREQKELPLSLRNGSLLSSRTFRASGR
2:3605750-3605750 C>T	1.0	4180	BREAST	-	-	-	-	RNASEH1	ENST00000454734,p.G34D	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000454734	nonsynonymous SNV	exon1	c.G101A	p.G34D	SRGFGMFYAVRRGRKTGVFLTC	SRGFGMFYAVRRDRKTGVFLTC	8.0	7.0	-	-	4180_2:3605750-3605750 C>T_SRGFGMFYAVRRDRKTGVFLTC
5:74807153-74807153 G>-	0.0	4180	BREAST	-	-	ID=COSM1181007;OCCURENCE=1(large_intestine)	-	COL4A3BP	NM_001130105,p.P88fs|uc003kdt.3,p.P88fs|ENST00000380494,p.P88fs	protein_coding, processed_transcript	uc003kdt.3	frameshift deletion	exon2	c.264delC	p.P88fs	RGGRTSSLLLLPPTPERALFASPSP	RGGRTSSLLLLPPHRSGHSSLRHPPTLHPEDWAPPPAQLRERGPVSCSVVEPPCRIIRAGTRRARRRIQRRSLGRLWSAAGSSVSGQTTFMGGRIVG	6.0	1.0	unscreened	-	4180_5:74807153-74807153 G>-_RGGRTSSLLLLPPHRSGHSSLRHPPTLHPEDWAPPPAQLRERGPVSCSVVEPPCRIIRAGTRRARRRIQRRSLGRLWSAAGSSVSGQTTFMGGRIVG
19:55993245-55993245 G>A	1.0	4180	BREAST	-	-	-	-	ZNF628	NM_033113,p.A229T|ENST00000391718,p.A225T|ENST00000598519,p.A229T|uc002qld.3,p.A229T	protein_coding	uc002qld.3	nonsynonymous SNV	exon3	c.G685A	p.A229T	SNLLLHQRTHGAAPAPGTASAAPPP	SNLLLHQRTHGATPAPGTASAAPPP	6.0	3.0	unscreened	-	4180_19:55993245-55993245 G>A_SNLLLHQRTHGATPAPGTASAAPPP
3:136047603-136047603 G>A	0.0	4180	BREAST	-	-	-	-	PCCB	ENST00000482086,p.A352T|NM_001178014,p.A488T|ENST00000469217,p.A488T|ENST00000468777,p.A499T|ENST00000466072,p.A488T|ENST00000462637,p.A445T|uc003eqy.2,p.A468T|ENST00000490504,p.A411T|ENST00000471595,p.A468T|ENST00000483687,p.A449T|ENST00000251654,p.A468T|uc011bmc.2,p.A488T|NM_000532,p.A468T|uc003eqz.1,p.A468T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bmc.2	nonsynonymous SNV	exon15	c.G1462A	p.A488T	PTAEIAVMGAKGAVEIIFKGHENVE	PTAEIAVMGAKGTVEIIFKGHENVE	9.0	2.0	unscreened	-	4180_3:136047603-136047603 G>A_PTAEIAVMGAKGTVEIIFKGHENVE
14:64988863-64988863 G>A	0.0	4180	BREAST	-	-	-	-	ZBTB1	uc001xhi.2,p.R214Q|ENST00000394712,p.R214Q|NM_014950,p.R214Q|uc001xhh.4,p.R214Q|NM_001123329,p.R214Q|ENST00000358738,p.R214Q|uc021rul.1,p.R214Q|uc010aqg.3,p.R214Q|ENST00000554015,p.R214Q	protein_coding, processed_transcript	uc021rul.1	nonsynonymous SNV	exon1	c.G641A	p.R214Q	STPKERVSRRFGRSFTCDSCGFGFS	STPKERVSRRFGQSFTCDSCGFGFS	7.0	1.0	unscreened	-	4180_14:64988863-64988863 G>A_STPKERVSRRFGQSFTCDSCGFGFS
8:144621235-144621235 C>-	0.0	4180	BREAST	-	-	-	-	ZC3H3	ENST00000262577,p.G101fs|NM_015117,p.G101fs|uc003yyd.2,p.G101fs	protein_coding	uc003yyd.2	frameshift deletion	exon2	c.302delG	p.G101fs	DHAVRPLHGARGGQPPVPQQHVLER	DHAVRPLHGARGASLLSRSSMSLRDRSSSVRVRTWSSKLNRHQSLALPVPQGPSGALWKNLRKPPGVTKGPGKVKVSPLGDSCSPRGQQEPGGPAVWKILFWSARRSLVSPGW	8.0	6.0	unscreened	-	4180_8:144621235-144621235 C>-_DHAVRPLHGARGASLLSRSSMSLRDRSSSVRVRTWSSKLNRHQSLALPVPQGPSGALWKNLRKPPGVTKGPGKVKVSPLGDSCSPRGQQEPGGPAVWKILFWSARRSLVSPGW
19:20044845-20044845 T>A	0.0	4180	BREAST	-	-	-	-	ZNF93	NM_031218,p.F361I|ENST00000343769,p.F361I|uc002non.3,p.F361I	protein_coding, processed_transcript, nonsense_mediated_decay	uc002non.3	nonsynonymous SNV	exon4	c.T1081A	p.F361I	AFIASSTLSRHEFIHMGKKHYKCEE	AFIASSTLSRHEIIHMGKKHYKCEE	7.0	3.0	unscreened	-	4180_19:20044845-20044845 T>A_AFIASSTLSRHEIIHMGKKHYKCEE
1:99156638-99156638 G>A	1.0	4180	BREAST	-	-	-	-	SNX7	ENST00000370189,p.R60H|uc001dsa.3,p.R60H|ENST00000454199,p.R60H|NM_015976,p.R124H|ENST00000529992,p.R124H|uc010ouc.2,p.R124H|uc010oud.2,p.R124H|ENST00000306121,p.R124H|NM_152238,p.R124H	protein_coding, processed_transcript, nonsense_mediated_decay	uc010oud.2	nonsynonymous SNV	exon3	c.G371A	p.R124H	TFITYRIITKTSRGEFDSSEFEVRR	TFITYRIITKTSHGEFDSSEFEVRR	9.0	5.0	-	-	4180_1:99156638-99156638 G>A_TFITYRIITKTSHGEFDSSEFEVRR
17:1961896-1961896 G>A	0.0	4180	BREAST	-	-	-	-	HIC1	uc021tnn.1,p.A638T|uc002ftz.4,p.A638T|ENST00000399849,p.A638T|ENST00000322941,p.A657T|NM_001098202,p.A657T|uc002fty.4,p.A638T|NM_006497,p.A638T|uc010cjy.3,p.A657T	protein_coding, processed_transcript	uc021tnn.1	nonsynonymous SNV	exon1	c.G1912A	p.A638T	FPEGVFAVARLTAEQLSLKQQDKAA	FPEGVFAVARLTTEQLSLKQQDKAA	6.0	2.0	unscreened	-	4180_17:1961896-1961896 G>A_FPEGVFAVARLTTEQLSLKQQDKAA
19:55773981-55773981 G>A	1.0	4180	BREAST	-	-	-	-	HSPBP1	ENST00000433386,p.R359W|uc002qjx.3,p.R405W|NM_001297600,p.R405W|ENST00000376343,p.R257W|uc002qkd.3,p.R359W|ENST00000255631,p.R359W|NM_012267,p.R359W|uc002qkc.3,p.R359W|NM_001130106,p.R359W|ENST00000587922,p.R359W	protein_coding	uc002qkd.3	nonsynonymous SNV	exon9	c.C1075T	p.R359W	TCFSSPADDSMDR	TCFSSPADDSMDW	9.0	8.0	-	-	4180_19:55773981-55773981 G>A_TCFSSPADDSMDW
10:100186986-100186986 ->G	1.0	4180	BREAST	-	-	ID=COSM3685965,COSM298286;OCCURENCE=2(large_intestine)	-	HPS1	uc010qph.1,p.M325fs	protein_coding, processed_transcript	uc010qph.1	frameshift insertion	exon11	c.972dupC	p.M325fs	GSTIWLEGGTPPMDALQVSFSCACL	GSTIWLEGGTPPHGCPSGEFLLCLPGRQL	9.0	9.0	unscreened	-	4180_10:100186986-100186986 ->G_GSTIWLEGGTPPHGCPSGEFLLCLPGRQL
22:24108324-24108324 A>G	1.0	4180	BREAST	-	-	-	-	CHCHD10	uc002zxw.3,p.Y134H|NM_001301339,p.Y141H|ENST00000484558,p.Y134H|ENST00000401675,p.Y141H|NM_213720,p.Y134H	retained_intron, protein_coding, nonsense_mediated_decay	uc002zxw.3	nonsynonymous SNV	exon3	c.T400C	p.Y134H	CEGFSEALKQCKYYHGLSSLP	CEGFSEALKQCKHYHGLSSLP	10.0	3.0	-	-	4180_22:24108324-24108324 A>G_CEGFSEALKQCKHYHGLSSLP
8:104427056-104427056 T>C	1.0	4180	BREAST	-	-	-	-	SLC25A32	uc003yll.4,p.N37S|ENST00000523256,p.N37S|ENST00000521645,p.N37S|ENST00000523866,p.N37S|NM_030780,p.N37S|ENST00000297578,p.N37S	protein_coding, processed_transcript, nonsense_mediated_decay	uc003yll.4	nonsynonymous SNV	exon1	c.A110G	p.N37S	NLIAGVSGGVLSNLALHPLDLVKIR	NLIAGVSGGVLSSLALHPLDLVKIR	8.0	1.0	unscreened	-	4180_8:104427056-104427056 T>C_NLIAGVSGGVLSSLALHPLDLVKIR
12:51077020-51077020 C>A	1.0	4180	BREAST	-	-	-	-	DIP2B	uc001rwv.3,p.L436I|NM_173602,p.L436I|ENST00000301180,p.L436I	retained_intron, protein_coding, nonsense_mediated_decay	uc001rwv.3	nonsynonymous SNV	exon10	c.C1306A	p.L436I	LAEVIPVPIEVPLTRKDAGGQQIGF	LAEVIPVPIEVPITRKDAGGQQIGF	7.0	10.0	unscreened	-	4180_12:51077020-51077020 C>A_LAEVIPVPIEVPITRKDAGGQQIGF
22:31489755-31489755 G>A	0.0	4180	BREAST	-	-	-	-	SMTN	uc003ajo.2,p.E108K|ENST00000404574,p.E108K	retained_intron, protein_coding, processed_transcript	uc003ajo.2	nonsynonymous SNV	exon1	c.G322A	p.E108K	EPSELLLAAADPEALFQAAEDAGTP	EPSELLLAAADPKALFQAAEDAGTP	9.0	9.0	unscreened	-	4180_22:31489755-31489755 G>A_EPSELLLAAADPKALFQAAEDAGTP
9:123812479-123812479 T>-	0.0	4180	BREAST	-	-	-	-	C5	uc004bkv.3,p.T16fs|NM_001735,p.T16fs|ENST00000223642,p.T16fs|uc010mvn.1,p.T16fs|uc010mvm.1,p.T16fs	retained_intron, protein_coding, processed_transcript	uc010mvn.1	frameshift deletion	exon1	c.46delA	p.T16fs	LGILCFLIFLGKTWGQEQTYVISAP	LGILCFLIFLGKPGDRSKHMSFQHQKYSVLEHLKIL	6.0	1.0	unscreened	-	4180_9:123812479-123812479 T>-_LGILCFLIFLGKPGDRSKHMSFQHQKYSVLEHLKIL
9:127119146-127119146 A>G	1.0	4180	BREAST	-	-	-	-	PSMB7	uc004boj.4,p.F207L|NM_002799,p.F207L|ENST00000259457,p.F207L	protein_coding, processed_transcript	uc004boj.4	nonsynonymous SNV	exon7	c.T619C	p.F207L	KNLVSEAIAAGIFNDLGSGSNIDLC	KNLVSEAIAAGILNDLGSGSNIDLC	10.0	9.0	-	-	4180_9:127119146-127119146 A>G_KNLVSEAIAAGILNDLGSGSNIDLC
4:6293706-6293706 C>T	1.0	4180	BREAST	-	-	-	-	WFS1	ENST00000226760,p.R232C|uc003gix.3,p.R232C|NM_001145853,p.R232C|ENST00000503569,p.R232C|uc003giz.3,p.R50C|NM_006005,p.R232C|uc003giy.3,p.R232C	retained_intron, protein_coding	uc003giz.3	nonsynonymous SNV	exon3	c.C148T	p.R50C	PKSLQKQRRMLERLVSSESKNYIAL	PKSLQKQRRMLECLVSSESKNYIAL	6.0	10.0	unscreened	-	4180_4:6293706-6293706 C>T_PKSLQKQRRMLECLVSSESKNYIAL
10:104678535-104678535 C>T	0.0	4180	BREAST	-	-	-	-	CNNM2	ENST00000433628,p.R100W|uc001kwn.3,p.R100W|NM_199076,p.R100W|ENST00000369878,p.R100W|uc001kwm.3,p.R100W|NM_017649,p.R100W|ENST00000369875,p.R100W|NM_199077,p.R100W|uc001kwl.3,p.R100W	protein_coding, processed_transcript	uc001kwn.3	nonsynonymous SNV	exon1	c.C298T	p.R100W	MEGGALRVSERTRVKLRVYGQNINN	MEGGALRVSERTWVKLRVYGQNINN	5.0	10.0	unscreened	-	4180_10:104678535-104678535 C>T_MEGGALRVSERTWVKLRVYGQNINN
8:145773236-145773236 C>T	0.0	4180	BREAST	-	-	-	-	ARHGAP39	uc003zdt.1,p.A412T|ENST00000276826,p.A412T|ENST00000540274,p.A412T|uc011llk.1,p.A412T|NM_025251,p.A412T|ENST00000377307,p.A412T|uc003zds.1,p.A412T	protein_coding, processed_transcript	uc011llk.1	nonsynonymous SNV	exon5	c.G1234A	p.A412T	YVEQAGSSPKLRAGPRHKYAPNPGG	YVEQAGSSPKLRTGPRHKYAPNPGG	7.0	2.0	unscreened	-	4180_8:145773236-145773236 C>T_YVEQAGSSPKLRTGPRHKYAPNPGG
12:100706288-100706288 T>C	0.0	4180	BREAST	-	-	-	-	SCYL2	uc001thn.3,p.Y237H|uc009ztw.1,p.Y64H|ENST00000548392,p.Y64H|ENST00000549687,p.Y237H|NM_017988,p.Y237H|ENST00000360820,p.Y237H|uc001thm.1,p.Y237H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009ztw.1	nonsynonymous SNV	exon5	c.T190C	p.Y64H	LCLPNPEYLAPEYILSVSCETASDM	LCLPNPEYLAPEHILSVSCETASDM	9.0	1.0	unscreened	-	4180_12:100706288-100706288 T>C_LCLPNPEYLAPEHILSVSCETASDM
6:110301267-110301267 G>A	0.0	4180	BREAST	-	-	-	-	GPR6	ENST00000414000,p.A333T|uc021zds.1,p.A318T|NM_005284,p.A318T|uc003ptu.3,p.A318T|NM_001286099,p.A333T|ENST00000275169,p.A318T|uc011eav.2,p.A333T|uc011eaw.2,p.A318T	protein_coding	uc021zds.1	nonsynonymous SNV	exon1	c.G952A	p.A318T	DPAVYTYATLLPATYNSMINPIIYA	DPAVYTYATLLPTTYNSMINPIIYA	1.0	10.0	unscreened	-	4180_6:110301267-110301267 G>A_DPAVYTYATLLPTTYNSMINPIIYA
8:1728581-1728581 G>A	1.0	4180	BREAST	-	-	-	-	CLN8	NM_018941,p.G237R|ENST00000331222,p.G237R|uc003wpo.4,p.G237R	retained_intron, protein_coding, processed_transcript	uc003wpo.4	nonsynonymous SNV	exon3	c.G709A	p.G237R	SLYLPHLTLFLVGLALLTLIINPYW	SLYLPHLTLFLVRLALLTLIINPYW	8.0	7.0	unscreened	-	4180_8:1728581-1728581 G>A_SLYLPHLTLFLVRLALLTLIINPYW
1:212530319-212530319 A>G	1.0	4180	BREAST	-	-	-	-	PPP2R5A	NM_006243,p.I336V|NM_001199756,p.I279V|uc010ptd.2,p.I279V|ENST00000537030,p.I279V|ENST00000261461,p.I336V|uc001hjb.3,p.I336V	protein_coding, processed_transcript	uc010ptd.2	nonsynonymous SNV	exon10	c.A835G	p.I279V	QKEVMFLGEIEEILDVIEPTQFKKI	QKEVMFLGEIEEVLDVIEPTQFKKI	9.0	6.0	unscreened	-	4180_1:212530319-212530319 A>G_QKEVMFLGEIEEVLDVIEPTQFKKI
2:208488973-208488973 C>T	0.0	4180	BREAST	-	-	-	-	METTL21A	ENST00000448823,p.A43T	protein_coding, processed_transcript	ENST00000448823	nonsynonymous SNV	exon1	c.G127A	p.A43T	IQIRQDWRHLGVAAVVWDAVLM	IQIRQDWRHLGVTAVVWDAVLM	9.0	1.0	unscreened	-	4180_2:208488973-208488973 C>T_IQIRQDWRHLGVTAVVWDAVLM
18:29126251-29126251 T>C	0.0	4180	BREAST	-	-	-	-	DSG2	uc002kwu.4,p.Y968H|NM_001943,p.Y968H|ENST00000261590,p.Y968H	protein_coding	uc002kwu.4	nonsynonymous SNV	exon15	c.T2902C	p.Y968H	SQPQSLIVTERVYAPASTLVDQPYA	SQPQSLIVTERVHAPASTLVDQPYA	10.0	1.0	unscreened	-	4180_18:29126251-29126251 T>C_SQPQSLIVTERVHAPASTLVDQPYA
8:145537944-145537944 T>C	1.0	4180	BREAST	-	-	-	-	HSF1	uc003zbt.4,p.L514P|NM_005526,p.L514P|ENST00000528838,p.L514P	retained_intron, protein_coding, processed_transcript	uc003zbt.4	nonsynonymous SNV	exon13	c.T1541C	p.L514P	EGDGFAEDPTISLLTGSEPPKAKDP	EGDGFAEDPTISPLTGSEPPKAKDP	10.0	1.0	unscreened	-	4180_8:145537944-145537944 T>C_EGDGFAEDPTISPLTGSEPPKAKDP
3:182858340-182858340 G>A	0.0	4180	BREAST	-	-	-	-	LAMP3	ENST00000265598,p.T311I|uc003flh.4,p.T311I|ENST00000466939,p.T287I|NM_014398,p.T311I	protein_coding, processed_transcript	uc003flh.4	nonsynonymous SNV	exon4	c.C932T	p.T311I	ESYYISEVGAYLTVSDPETIYQGIK	ESYYISEVGAYLIVSDPETIYQGIK	8.0	6.0	unscreened	-	4180_3:182858340-182858340 G>A_ESYYISEVGAYLIVSDPETIYQGIK
6:100006296-100006296 A>-	0.0	4180	BREAST	-	-	-	2	CCNC	ENST00000482541,p.F141fs|uc003pqf.3,p.F141fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pqf.3	frameshift deletion	exon5	c.423delT	p.F141fs	LKKAPEYIDFFFFSL	LKKAPEYIDFFFLVY	9.0	9.0	unscreened	-	4180_6:100006296-100006296 A>-_LKKAPEYIDFFFLVY
5:125911121-125911121 G>T	1.0	4180	BREAST	-	-	-	-	ALDH7A1	ENST00000553117,p.A229D|NM_001201377,p.A201D|ENST00000409134,p.A229D|ENST00000510111,p.A200D|NM_001202404,p.A256D|NM_001182,p.A229D|uc011cxa.2,p.A256D|ENST00000447989,p.A256D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cxa.2	nonsynonymous SNV	exon7	c.C767A	p.A256D	WKGAPTTSLISVAVTKIIAKVLEDN	WKGAPTTSLISVDVTKIIAKVLEDN	9.0	4.0	-	-	4180_5:125911121-125911121 G>T_WKGAPTTSLISVDVTKIIAKVLEDN
17:76117168-76117168 G>-	0.0	4180	BREAST	-	-	ID=COSM1288483;OCCURENCE=1(autonomic_ganglia)	-	TMC6	ENST00000392467,p.P487fs|uc010dhf.1,p.P320fs|uc002jum.4,p.P278fs|NM_001127198,p.P487fs|uc002jul.1,p.P487fs|NM_007267,p.P487fs|ENST00000590602,p.P487fs|ENST00000322914,p.P487fs|uc002juj.1,p.P487fs|uc002juk.2,p.P487fs|uc002jun.4,p.P487fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dhf.1	frameshift deletion	exon11	c.960delC	p.P320fs	LPLVVGLLNLGAPYLCRVLAALEPH	LPLVVGLLNLGAPTCAVSWPPWSRMTPRYWRCTWPSAGTSSSSWPSWGHCATTGWAAGWASCRASAGRILWARSCTGSW	9.0	3.0	unscreened	-	4180_17:76117168-76117168 G>-_LPLVVGLLNLGAPTCAVSWPPWSRMTPRYWRCTWPSAGTSSSSWPSWGHCATTGWAAGWASCRASAGRILWARSCTGSW
18:74672640-74672640 C>T	0.0	4180	BREAST	-	-	-	-	ZNF236	uc002lmi.3,p.R1748W|NM_007345,p.R1748W|ENST00000320610,p.R1750W|ENST00000253159,p.R1748W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lmi.3	nonsynonymous SNV	exon30	c.C5242T	p.R1748W	QLERHSRIHTGERPFHCTLCEKAFN	QLERHSRIHTGEWPFHCTLCEKAFN	7.0	4.0	unscreened	-	4180_18:74672640-74672640 C>T_QLERHSRIHTGEWPFHCTLCEKAFN
12:22440114-22440114 A>T	0.0	4180	BREAST	-	-	-	-	ST8SIA1	NM_003034,p.I117N|ENST00000540824,p.I68N|ENST00000396037,p.I117N|ENST00000541868,p.I94N|uc001rfo.4,p.I117N	protein_coding, processed_transcript, nonsense_mediated_decay	uc001rfo.4	nonsynonymous SNV	exon2	c.T350A	p.I117N	MWYDGEFLYSFTIDNSTYSLFPQAT	MWYDGEFLYSFTNDNSTYSLFPQAT	5.0	9.0	unscreened	-	4180_12:22440114-22440114 A>T_MWYDGEFLYSFTNDNSTYSLFPQAT
1:9931325-9931325 C>T	0.0	4180	BREAST	-	-	-	-	CTNNBIP1	ENST00000400904,p.S36N|ENST00000377263,p.S36N|ENST00000537447,p.S36N|ENST00000377256,p.S36N|uc001aqk.1,p.S36N|NM_020248,p.S36N|uc001aql.1,p.S36N|ENST00000377258,p.S36N|NM_001012329,p.S36N	protein_coding	uc001aql.1	nonsynonymous SNV	exon4	c.G107A	p.S36N	LMLRKMGSNLTASEEEFLRTYAGVV	LMLRKMGSNLTANEEEFLRTYAGVV	10.0	2.0	unscreened	-	4180_1:9931325-9931325 C>T_LMLRKMGSNLTANEEEFLRTYAGVV
6:108882771-108882771 ->G	0.0	4180	BREAST	-	-	-	1	FOXO3	uc003psk.2,p.S120fs|NM_201559,p.S120fs|NM_001455,p.S120fs|uc003psm.2,p.S120fs|ENST00000406360,p.S120fs|ENST00000343882,p.S120fs	protein_coding	uc003psm.2	frameshift insertion	exon1	c.361dupG	p.S120fs	PGSGPATAAGGLSGGTQALLQPQQP	PGSGPATAAGGLSGGYTGAAAASATAATAAAGGGWGLRAAEEMFVAAERLGKPVLRGPDHPRHRELPGQTAHSVPDLRVDGALRALLQG	8.0	3.0	unscreened	-	4180_6:108882771-108882771 ->G_PGSGPATAAGGLSGGYTGAAAASATAATAAAGGGWGLRAAEEMFVAAERLGKPVLRGPDHPRHRELPGQTAHSVPDLRVDGALRALLQG
1:150737202-150737204 GAG>-	1.0	4180	BREAST	-	-	-	-	CTSS	uc001evn.3,p.12_13del|uc010pcj.2,p.12_13del|NM_004079,p.12_13del|NM_001199739,p.12_13del|ENST00000448301,p.12_13del|ENST00000368985,p.12_13del	protein_coding, processed_transcript	uc010pcj.2	nonframeshift deletion	exon2	c.36_38del	p.12_13del	MKRLVCVLLVCSSAVAQLHKDPTL	MKRLVCVLLVCSAVAQLHKDPTLD	10.0	7.0	unscreened	-	4180_1:150737202-150737204 GAG>-_MKRLVCVLLVCSAVAQLHKDPTLD
10:101464342-101464342 C>T	1.0	4180	BREAST	-	-	-	-	ENTPD7	ENST00000370489,p.R573C|NM_020354,p.R573C|uc009xwl.3,p.R575C|uc001kqa.4,p.R573C	protein_coding, processed_transcript	uc009xwl.3	nonsynonymous SNV	exon14	c.C1723T	p.R575C	VLLAIFLYLLRLRRIHHRQTRASAP	VLLAIFLYLLRLCRIHHRQTRASAP	6.0	10.0	unscreened	-	4180_10:101464342-101464342 C>T_VLLAIFLYLLRLCRIHHRQTRASAP
X:11162200-11162200 ->C	0.0	4180	BREAST	-	-	ID=COSM1625403;OCCURENCE=1(liver)	-	ARHGAP6	ENST00000380736,p.G489fs|NM_013423,p.G489fs|ENST00000337414,p.G692fs|NM_013427,p.G692fs|uc004cun.1,p.G512fs|uc004cum.1,p.G489fs|ENST00000303025,p.G489fs|uc004cup.1,p.G692fs|NM_001287242,p.G512fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004cup.1	frameshift insertion	exon11	c.2075dupG	p.G692fs	SLLAMQEDAAPGGSEKLYRVPGQFM	SLLAMQEDAAPGGLGEALQSARAVYAGGPLVVVKVKGKFSWTKAWERSVRGAFRYLGNLAFNIKKRIQRPRNDRFLWRHF	3.0	4.0	unscreened	-	4180_X:11162200-11162200 ->C_SLLAMQEDAAPGGLGEALQSARAVYAGGPLVVVKVKGKFSWTKAWERSVRGAFRYLGNLAFNIKKRIQRPRNDRFLWRHF
12:22440114-22440114 A>T	0.0	4180	BREAST	-	-	-	-	ST8SIA1	ENST00000261197,p.I117N	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000261197	nonsynonymous SNV	exon2	c.T350A	p.I117N	MWYDGEFLYSFTIDNSTYSLFPQMQ	MWYDGEFLYSFTNDNSTYSLFPQMQ	5.0	9.0	unscreened	-	4180_12:22440114-22440114 A>T_MWYDGEFLYSFTNDNSTYSLFPQMQ
X:11162200-11162200 ->C	0.0	4180	BREAST	-	-	ID=COSM1625403;OCCURENCE=1(liver)	-	ARHGAP6	ENST00000534860,p.G517fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000534860	frameshift insertion	exon11	c.1550dupG	p.G517fs	SLLAMQEDAAPGGSEKLYRVPGQFM	SLLAMQEDAAPGGLGEALQSARAVYAGGPLVVVKVKGKFSWTKAWERSVRGAFRYLGNLAFNIKKRIQRPRNDRNYSSP	3.0	4.0	unscreened	-	4180_X:11162200-11162200 ->C_SLLAMQEDAAPGGLGEALQSARAVYAGGPLVVVKVKGKFSWTKAWERSVRGAFRYLGNLAFNIKKRIQRPRNDRNYSSP
12:52714752-52714752 G>A	0.0	4180	BREAST	-	-	-	-	KRT83	NM_002282,p.A123V|uc001saf.2,p.A123V|ENST00000293670,p.A123V	protein_coding	uc001saf.2	nonsynonymous SNV	exon1	c.C368T	p.A123V	EKEQIKSLNSRFAAFIDKVRFLEQQ	EKEQIKSLNSRFVAFIDKVRFLEQQ	5.0	5.0	unscreened	-	4180_12:52714752-52714752 G>A_EKEQIKSLNSRFVAFIDKVRFLEQQ
10:106058908-106058908 C>A	0.0	4180	BREAST	-	-	-	-	GSTO2	ENST00000429569,p.P102H|uc010qqy.2,p.P102H	protein_coding, processed_transcript	uc010qqy.2	nonsynonymous SNV	exon3	c.C305A	p.P102H	ELFCKLCEPHASPAALDISHEVGPH	ELFCKLCEPHASHAALDISHEVGPH	6.0	10.0	unscreened	-	4180_10:106058908-106058908 C>A_ELFCKLCEPHASHAALDISHEVGPH
5:66478903-66478903 T>C	0.0	4180	BREAST	-	-	-	-	CD180	uc003juy.2,p.T590A|NM_005582,p.T590A|ENST00000256447,p.T590A	retained_intron, protein_coding	uc003juy.2	nonsynonymous SNV	exon3	c.A1768G	p.T590A	PLDCTCSNIHFLTWYKENLHKLEGS	PLDCTCSNIHFLAWYKENLHKLEGS	6.0	6.0	unscreened	-	4180_5:66478903-66478903 T>C_PLDCTCSNIHFLAWYKENLHKLEGS
1:186140528-186140528 A>T	0.0	4180	BREAST	-	-	-	-	HMCN1	uc001grq.1,p.S5212C|uc001grs.1,p.S781C|ENST00000271588,p.S5212C|ENST00000367492,p.S5212C|NM_031935,p.S5212C	protein_coding, processed_transcript	uc001grs.1	nonsynonymous SNV	exon19	c.A2341T	p.S781C	SPCHQRCFNAIGSFHCGCEPGYQLK	SPCHQRCFNAIGCFHCGCEPGYQLK	5.0	10.0	unscreened	-	4180_1:186140528-186140528 A>T_SPCHQRCFNAIGCFHCGCEPGYQLK
15:63076122-63076123 CA>-	0.0	4180	BREAST	-	-	-	-	TLN2	uc002ald.3,p.C316fs|ENST00000472902,p.C316fs	retained_intron, protein_coding, processed_transcript	uc002ald.3	frameshift deletion	exon9	c.948_949del	p.C316fs	EEVCHLKTPILRCTHTLVPTPGYFF	EEVCHLKTPILRCTHTGAHSWVFLHSL	9.0	3.0	unscreened	-	4180_15:63076122-63076123 CA>-_EEVCHLKTPILRCTHTGAHSWVFLHSL
14:55453933-55453933 A>T	1.0	4180	BREAST	-	-	-	-	WDHD1	NM_007086,p.F567I|NM_001008396,p.F444I|uc001xbm.2,p.F567I|ENST00000421192,p.F444I|ENST00000420358,p.F444I|uc001xbn.2,p.F444I|uc010aom.2,p.F84I|ENST00000359167,p.F85I|ENST00000360586,p.F567I	retained_intron, protein_coding, nonsense_mediated_decay	uc010aom.2	nonsynonymous SNV	exon2	c.T250A	p.F84I	RLFTIGGVQKEVFSLAGPVVSMAGH	RLFTIGGVQKEVISLAGPVVSMAGH	7.0	9.0	unscreened	-	4180_14:55453933-55453933 A>T_RLFTIGGVQKEVISLAGPVVSMAGH
6:33422932-33422932 G>A	0.0	4180	BREAST	-	-	-	-	ZBTB9	uc021ywp.1,p.A19T|uc003oeq.3,p.A19T|ENST00000395064,p.A19T|NM_152735,p.A19T	protein_coding, processed_transcript	uc021ywp.1	nonsynonymous SNV	exon1	c.G55A	p.A19T	LPPVPASPTCNPAPRTIQIEFPQHS	LPPVPASPTCNPTPRTIQIEFPQHS	6.0	4.0	unscreened	-	4180_6:33422932-33422932 G>A_LPPVPASPTCNPTPRTIQIEFPQHS
1:11259318-11259318 A>G	1.0	4180	BREAST	-	-	-	1	MTOR	ENST00000361445,p.I1417T|uc001asd.3,p.I1417T|NM_004958,p.I1417T	protein_coding, processed_transcript	uc001asd.3	nonsynonymous SNV	exon28	c.T4250C	p.I1417T	QKGPTPAILESLISINNKLQQPEAA	QKGPTPAILESLTSINNKLQQPEAA	8.0	7.0	unscreened	-	4180_1:11259318-11259318 A>G_QKGPTPAILESLTSINNKLQQPEAA
1:186355198-186355198 C>A	0.0	4180	BREAST	-	-	-	-	C1orf27	NM_017847,p.Q105K|ENST00000432021,p.Q105K|uc021pgk.1,p.Q105K|ENST00000367470,p.Q105K|ENST00000287859,p.Q105K|uc021pgg.1,p.Q105K|uc021pgj.1,p.Q105K|NM_001164245,p.Q105K|uc021pgh.1,p.Q105K	protein_coding, processed_transcript	uc021pgk.1	nonsynonymous SNV	exon3	c.C313A	p.Q105K	FIITTLELANDFQNALRRLMFAVEK	FIITTLELANDFKNALRRLMFAVEK	7.0	5.0	unscreened	-	4180_1:186355198-186355198 C>A_FIITTLELANDFKNALRRLMFAVEK
16:75033762-75033762 G>-	0.0	4180	BREAST	-	-	-	-	ZNRF1	uc010cgr.1,p.G65fs|ENST00000566250,p.G65fs|uc010vmz.1,p.G65fs|ENST00000335325,p.G65fs|NM_032268,p.G65fs|uc002fdl.1,p.G65fs|uc002fdk.3,p.G65fs|ENST00000567962,p.G65fs|ENST00000320619,p.G65fs	retained_intron, protein_coding, processed_transcript	uc010vmz.1	frameshift deletion	exon1	c.193delG	p.G65fs	SVAGMGMDPSTAGGVPFGLYTPASR	SVAGMGMDPSTAGGCPLASTPPPPGAPATPRGRPAAEGLRPTPPMPMAMVTRRRAAVTIETGCCTWAPEPRWRMLYLCTSHPGGSARIVVSSAPFAPSLWLLTRWKCTL	7.0	4.0	unscreened	-	4180_16:75033762-75033762 G>-_SVAGMGMDPSTAGGCPLASTPPPPGAPATPRGRPAAEGLRPTPPMPMAMVTRRRAAVTIETGCCTWAPEPRWRMLYLCTSHPGGSARIVVSSAPFAPSLWLLTRWKCTL
X:153688564-153688564 ->G	0.0	4180	BREAST	-	-	ID=COSM1466827;OCCURENCE=1(liver),1(large_intestine),1(NS)	-	PLXNA3	uc004flm.3,p.V14fs|NM_017514,p.V14fs|ENST00000369682,p.V14fs	retained_intron, protein_coding, processed_transcript	uc004flm.3	frameshift insertion	exon2	c.42dupG	p.V14fs	PSVCLLLLLFLAVGGALGNRPFRAF	PSVCLLLLLFLAVGGGPGQQALPCLRGDRHHAYPPGCAPGDWGGVRGRSEPSL	8.0	1.0	unscreened	-	4180_X:153688564-153688564 ->G_PSVCLLLLLFLAVGGGPGQQALPCLRGDRHHAYPPGCAPGDWGGVRGRSEPSL
19:13934198-13934198 C>T	1.0	4180	BREAST	-	-	-	-	ZSWIM4	ENST00000590508,p.P492L|uc002mxh.1,p.P583L|NM_023072,p.P583L|ENST00000440752,p.P417L|ENST00000254323,p.P583L|uc010xng.1,p.P506L	protein_coding	uc010xng.1	nonsynonymous SNV	exon9	c.C1517T	p.P506L	LPILETAFPAGEPHPSPLDSIMSNR	LPILETAFPAGELHPSPLDSIMSNR	7.0	10.0	unscreened	-	4180_19:13934198-13934198 C>T_LPILETAFPAGELHPSPLDSIMSNR
9:91930159-91930159 G>C	1.0	4180	BREAST	-	-	-	-	CKS2	NM_001827,p.R45T|ENST00000314355,p.R45T|uc004aqh.3,p.R45T	protein_coding	uc004aqh.3	nonsynonymous SNV	exon2	c.G134C	p.R45T	PKTHLMSEEEWRRLGVQQSLGWVHY	PKTHLMSEEEWRTLGVQQSLGWVHY	10.0	10.0	-	-	4180_9:91930159-91930159 G>C_PKTHLMSEEEWRTLGVQQSLGWVHY
14:93714880-93714880 A>T	0.0	4180	BREAST	-	-	-	-	BTBD7	uc010two.2,p.I508N|ENST00000393170,p.I262N|uc010aur.3,p.I213N|NM_001289133,p.I337N|ENST00000334746,p.I688N|NM_001002860,p.I688N|uc001ybp.3,p.I337N|ENST00000553975,p.I303N|uc001ybo.3,p.I688N|ENST00000554565,p.I337N	retained_intron, protein_coding, nonsense_mediated_decay	uc010two.2	nonsynonymous SNV	exon5	c.T1523A	p.I508N	LNCGEGATVSYEIQIRVLREFGLAD	LNCGEGATVSYENQIRVLREFGLAD	6.0	4.0	unscreened	-	4180_14:93714880-93714880 A>T_LNCGEGATVSYENQIRVLREFGLAD
12:113821925-113821925 A>G	1.0	4180	BREAST	-	-	-	-	PLBD2	ENST00000280800,p.T325A|ENST00000545182,p.T325A|NM_001159727,p.T325A|uc001tve.2,p.T325A|NM_173542,p.T325A|uc001tvf.2,p.T325A	protein_coding, processed_transcript, nonsense_mediated_decay	uc001tvf.2	nonsynonymous SNV	exon7	c.A973G	p.T325A	YILGSGLVTLETTIGNKNPALWKYV	YILGSGLVTLETAIGNKNPALWKYV	6.0	5.0	unscreened	-	4180_12:113821925-113821925 A>G_YILGSGLVTLETAIGNKNPALWKYV
9:96031161-96031161 G>A	0.0	4180	BREAST	-	-	-	2	WNK2	ENST00000349097,p.R970H|uc004ati.1,p.R1358H|NM_001282394,p.R1358H|ENST00000297954,p.R1358H	retained_intron, protein_coding, processed_transcript	uc004ati.1	nonsynonymous SNV	exon19	c.G4073A	p.R1358H	PCRGLTLPCLPWRRAACGAVFLSLF	PCRGLTLPCLPWHRAACGAVFLSLF	6.0	4.0	unscreened	-	4180_9:96031161-96031161 G>A_PCRGLTLPCLPWHRAACGAVFLSLF
10:76468115-76468115 C>T	1.0	4180	BREAST	-	-	-	-	ADK	uc010qlc.2,p.T299I|ENST00000539909,p.T277I|NM_006721,p.T334I|ENST00000541550,p.T299I|uc001jwi.3,p.T334I|uc010qlb.2,p.T277I|NM_001202450,p.T277I|uc001jwj.3,p.T317I|NM_001202449,p.T299I|NM_001123,p.T317I|ENST00000286621,p.T334I|ENST00000372734,p.T317I	protein_coding, processed_transcript	uc010qlc.2	nonsynonymous SNV	exon10	c.C896T	p.T299I	GFLSQLVSDKPLTECIRAGHYAASI	GFLSQLVSDKPLIECIRAGHYAASI	9.0	4.0	unscreened	-	4180_10:76468115-76468115 C>T_GFLSQLVSDKPLIECIRAGHYAASI
19:55452984-55452984 A>-	0.0	4180	BREAST	-	-	-	-	NLRP7	ENST00000328092,p.F32fs|ENST00000587844,p.F32fs|NM_001127255,p.F32fs|NM_139176,p.F32fs|ENST00000340844,p.F32fs|uc010esl.3,p.F60fs|uc002qig.4,p.F32fs|NM_206828,p.F32fs|ENST00000448121,p.F32fs|uc002qii.4,p.F32fs|ENST00000446217,p.F60fs|ENST00000586379,p.F32fs|ENST00000587103,p.F32fs|uc010esk.3,p.F32fs|ENST00000590030,p.F32fs|ENST00000588756,p.F32fs|uc002qih.4,p.F32fs|ENST00000592784,p.F32fs	protein_coding, nonsense_mediated_decay	uc010esl.3	frameshift deletion	exon4	c.180delT	p.F60fs	DELKSFKSLLWAFPLEDVLQKTPWS	DELKSFKSLLWAFPSKTCYRRPHGLRWKRLMARNWQKFWSTPPQKIG	3.0	1.0	unscreened	-	4180_19:55452984-55452984 A>-_DELKSFKSLLWAFPSKTCYRRPHGLRWKRLMARNWQKFWSTPPQKIG
7:72413626-72413626 G>A	0.0	4180	BREAST	-	-	ID=COSM230601;OCCURENCE=1(large_intestine),1(skin)	-	POM121	ENST00000358357,p.G767S|uc010lam.1,p.G767S|ENST00000434423,p.G1032S|NM_172020,p.G767S|uc003twk.2,p.G1032S|ENST00000446813,p.G767S|NM_001257190,p.G767S|ENST00000257622,p.G767S|ENST00000395270,p.G767S|uc031sxs.1,p.G767S	protein_coding	uc031sxs.1	nonsynonymous SNV	exon11	c.G2299A	p.G767S	AYVPTPIHPIFGGATHSAFGLKATA	AYVPTPIHPIFGSATHSAFGLKATA	7.0	4.0	unscreened	-	4180_7:72413626-72413626 G>A_AYVPTPIHPIFGSATHSAFGLKATA
11:60641201-60641201 A>G	0.0	4180	BREAST	-	-	-	-	ZP1	ENST00000278853,p.T509A|uc001nqd.3,p.T509A|NM_207341,p.T509A|uc001nqe.3,p.T216A	retained_intron, protein_coding, nonsense_mediated_decay	uc001nqe.3	nonsynonymous SNV	exon5	c.A646G	p.T216A	PFQSHYQRFTVATFALLDSGSQRAL	PFQSHYQRFTVAAFALLDSGSQRAL	1.0	9.0	unscreened	-	4180_11:60641201-60641201 A>G_PFQSHYQRFTVAAFALLDSGSQRAL
6:30298619-30298619 A>G	1.0	4180	BREAST	-	-	-	-	TRIM39,TRIM39-RPP21	ENST00000396548,p.K172R|ENST00000540416,p.K172R|NM_001199119,p.K172R|NM_172016,p.K172R|ENST00000513556,p.K84R|ENST00000396547,p.K172R|ENST00000376656,p.K172R|uc003nqb.3,p.K172R|uc003nqc.3,p.K172R|uc010jrz.3,p.K172R|ENST00000428728,p.K172R|ENST00000376659,p.K172R|NM_021253,p.K172R|uc010jsa.2,p.K172R|uc003npz.3,p.K172R|ENST00000396551,p.K172R	protein_coding	uc010jsa.2	nonsynonymous SNV	exon2	c.A515G	p.K172R	PLEQKLQEITRCKSSEEKKPGELKR	PLEQKLQEITRCRSSEEKKPGELKR	7.0	9.0	unscreened	-	4180_6:30298619-30298619 A>G_PLEQKLQEITRCRSSEEKKPGELKR
7:550451-550451 C>T	0.0	4180	BREAST	-	-	-	-	PDGFA	NM_002607,p.V150I|uc003sir.3,p.V150I|ENST00000354513,p.V150I|uc003sit.1,p.V164I|ENST00000402802,p.V150I|NM_033023,p.V150I|ENST00000400761,p.V159I|uc003sis.3,p.V150I	retained_intron, protein_coding	uc003sit.1	nonsynonymous SNV	exon2	c.G490A	p.V164I	VKCQPSRVHHRSVKVAKVEYVRKKP	VKCQPSRVHHRSIKVAKVEYVRKKP	6.0	8.0	unscreened	-	4180_7:550451-550451 C>T_VKCQPSRVHHRSIKVAKVEYVRKKP
1:53236877-53236877 C>T	0.0	4180	BREAST	-	-	-	-	ZYG11B	NM_024646,p.L128F|ENST00000545132,p.L128F|ENST00000443756,p.L128F|ENST00000294353,p.L128F|uc010onj.2,p.L119F|uc001cuj.3,p.L128F	protein_coding	uc010onj.2	nonsynonymous SNV	exon3	c.C355T	p.L119F	NADITITDIISGLGSNKWIQQNLQC	NADITITDIISGFGSNKWIQQNLQC	7.0	1.0	unscreened	-	4180_1:53236877-53236877 C>T_NADITITDIISGFGSNKWIQQNLQC
5:140475611-140475611 C>T	0.0	4180	BREAST	-	-	-	-	PCDHB2	NM_018936,p.R413W|uc003lil.3,p.R413W|uc003lim.1,p.R74W|ENST00000194155,p.R413W	protein_coding	uc003lim.1	nonsynonymous SNV	exon2	c.C220T	p.R74W	NFYTLVISTALDRETRSEYNITITV	NFYTLVISTALDWETRSEYNITITV	7.0	5.0	unscreened	-	4180_5:140475611-140475611 C>T_NFYTLVISTALDWETRSEYNITITV
4:6610944-6610944 C>A	1.0	4180	BREAST	-	-	-	-	MAN2B2	uc011bwf.1,p.A591D|uc003gje.1,p.A642D|ENST00000504248,p.A591D|ENST00000285599,p.A642D|uc003gjf.1,p.A642D|NM_015274,p.A642D|NM_001292038,p.A591D	protein_coding, processed_transcript	uc011bwf.1	nonsynonymous SNV	exon12	c.C1772A	p.A591D	PISDNYLFTPGKAAVPAWEAVEMEI	PISDNYLFTPGKDAVPAWEAVEMEI	8.0	7.0	unscreened	-	4180_4:6610944-6610944 C>A_PISDNYLFTPGKDAVPAWEAVEMEI
2:55549818-55549818 T>-	0.0	4180	BREAST	-	-	-	-	CCDC88A	ENST00000436346,p.N1003fs|uc010yoz.1,p.N1003fs|ENST00000336838,p.N1002fs|NM_018084,p.N1003fs|NM_001135597,p.N1002fs|ENST00000263630,p.N1003fs|NM_001254943,p.N1002fs|ENST00000413716,p.N1002fs|uc010ypa.1,p.N1002fs|uc002ryu.2,p.N285fs|uc002ryv.2,p.N1002fs|ENST00000426576,p.N178fs|ENST00000412148,p.N48fs|uc002ryw.3,p.N286fs	retained_intron, protein_coding, processed_transcript	uc010ypa.1	frameshift deletion	exon18	c.3005delA	p.N1002fs	QQLRQELKTVKKNYEALKQRQDEER	QQLRQELKTVKKIMKLSNRDKMRKGWYRALLQYLVKTTNGSEKVKKRLENF	7.0	10.0	unscreened	-	4180_2:55549818-55549818 T>-_QQLRQELKTVKKIMKLSNRDKMRKGWYRALLQYLVKTTNGSEKVKKRLENF
12:112601479-112601479 T>A	1.0	4180	BREAST	-	-	-	-	HECTD4	ENST00000430131,p.N3833I|ENST00000377560,p.N4083I|uc021reb.1,p.N4121I|NM_001109662,p.N4121I|ENST00000550722,p.N4109I	retained_intron, protein_coding, processed_transcript	uc021reb.1	nonsynonymous SNV	exon74	c.A12362T	p.N4121I	AAIRSLRLRELQNVECVTAVRAGLG	AAIRSLRLRELQIVECVTAVRAGLG	6.0	8.0	unscreened	-	4180_12:112601479-112601479 T>A_AAIRSLRLRELQIVECVTAVRAGLG
11:61277092-61277092 G>A	0.0	4180	BREAST	-	-	-	-	LRRC10B	uc010rlk.2,p.V208I|NM_001145077,p.V208I|ENST00000378075,p.V208I	protein_coding	uc010rlk.2	nonsynonymous SNV	exon1	c.G622A	p.V208I	GFPDLHPLRALRVFSYDHNPVTGPP	GFPDLHPLRALRIFSYDHNPVTGPP	2.0	5.0	unscreened	-	4180_11:61277092-61277092 G>A_GFPDLHPLRALRIFSYDHNPVTGPP
9:137716448-137716448 C>-	0.0	4180	BREAST	-	-	-	-	COL5A1	uc004cfe.4,p.G1567fs|ENST00000371817,p.G1567fs|uc031tfl.1,p.G1567fs|NM_001278074,p.G1567fs|NM_000093,p.G1567fs	retained_intron, protein_coding, processed_transcript	uc031tfl.1	frameshift deletion	exon62	c.4701delC	p.G1567fs	GEAGHPGPPGPPGPPGEVIQPLPIQ	GEAGHPGPPGPPGPRERSSSPCQSRHPGRGGTSTPASCWTTGMARTTWTTRTAWKRSSALSTL	7.0	1.0	unscreened	-	4180_9:137716448-137716448 C>-_GEAGHPGPPGPPGPRERSSSPCQSRHPGRGGTSTPASCWTTGMARTTWTTRTAWKRSSALSTL
1:196716376-196716376 G>A	0.0	4180	BREAST	-	-	-	-	CFH	ENST00000367429,p.R1210H|uc001gtj.4,p.R1210H|NM_000186,p.R1210H	retained_intron, protein_coding, ambiguous_orf	uc001gtj.4	nonsynonymous SNV	exon22	c.G3629A	p.R1210H	EFVCKRGYRLSSRSHTLRTTCWDGK	EFVCKRGYRLSSHSHTLRTTCWDGK	7.0	7.0	unscreened	-	4180_1:196716376-196716376 G>A_EFVCKRGYRLSSHSHTLRTTCWDGK
3:180703752-180703752 G>A	1.0	4180	BREAST	-	-	-	-	DNAJC19	uc021xhw.1,p.A56V|ENST00000491873,p.A56V|ENST00000382564,p.A81V|uc003fkt.3,p.A81V|uc021xhv.1,p.A56V|NM_145261,p.A81V|NM_001190233,p.A56V|ENST00000479269,p.A56V	retained_intron, protein_coding, nonsense_mediated_decay	uc021xhw.1	nonsynonymous SNV	exon4	c.C167T	p.A56V	VSPTANKGKIRDAHRRIMLLNHPDK	VSPTANKGKIRDVHRRIMLLNHPDK	9.0	6.0	unscreened	-	4180_3:180703752-180703752 G>A_VSPTANKGKIRDVHRRIMLLNHPDK
2:55470695-55470695 T>C	1.0	4180	BREAST	-	-	-	-	MTIF2	uc002ryn.3,p.H474R|uc010yox.2,p.H143R|ENST00000263629,p.H474R|NM_001005369,p.H474R|ENST00000403721,p.H474R|ENST00000394600,p.H474R|NM_002453,p.H474R|uc002ryo.3,p.H474R	protein_coding, processed_transcript	uc010yox.2	nonsynonymous SNV	exon9	c.A428G	p.H143R	IIEEKRKEHKEAHQKAREKYGHLLW	IIEEKRKEHKEARQKAREKYGHLLW	9.0	8.0	unscreened	-	4180_2:55470695-55470695 T>C_IIEEKRKEHKEARQKAREKYGHLLW
12:110781073-110781074 TT>-	0.0	4180	BREAST	-	-	-	-	ATP2A2	uc021rdt.1,p.A633fs|ENST00000395494,p.A758fs|ENST00000308664,p.A785fs|uc001tqk.4,p.A785fs|ENST00000539276,p.A785fs|NM_001681,p.A785fs|NM_170665,p.A785fs|uc001tql.4,p.A785fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021rdt.1	frameshift deletion	exon12	c.1899_1900del	p.A633fs	CIFLTAALGFPEALIPVQLLWVNLV	CIFLTAALGFPEADSCSAALGQSGDRWPACHCTGVQPS	9.0	3.0	unscreened	-	4180_12:110781073-110781074 TT>-_CIFLTAALGFPEADSCSAALGQSGDRWPACHCTGVQPS
2:27900193-27900193 T>C	1.0	4180	BREAST	-	-	-	-	SLC4A1AP	ENST00000326019,p.L513P|NM_018158,p.L513P|uc002rlk.4,p.L513P	retained_intron, protein_coding, nonsense_mediated_decay	uc002rlk.4	nonsynonymous SNV	exon7	c.T1538C	p.L513P	SLVAKLNDAERELSEISERLKASSQ	SLVAKLNDAEREPSEISERLKASSQ	9.0	7.0	-	-	4180_2:27900193-27900193 T>C_SLVAKLNDAEREPSEISERLKASSQ
15:102346781-102346781 T>C	0.0	4180	BREAST	-	-	-	-	OR4F6	uc010utr.2,p.Y287H|NM_001005326,p.Y287H|ENST00000328882,p.Y287H	protein_coding	uc010utr.2	nonsynonymous SNV	exon1	c.T859C	p.Y287H	DAVITPVLNPVIYTFRNKEMMVAMR	DAVITPVLNPVIHTFRNKEMMVAMR	1.0	10.0	unscreened	-	4180_15:102346781-102346781 T>C_DAVITPVLNPVIHTFRNKEMMVAMR
1:180064985-180064985 A>G	1.0	4180	BREAST	-	-	-	-	CEP350	ENST00000367607,p.I2947V|uc009wxl.2,p.I2946V|ENST00000417046,p.I411V|uc001gnv.3,p.I1082V|NM_014810,p.I2947V|uc001gnw.1,p.I704V|uc001gnt.3,p.I2947V|uc001gnx.1,p.I704V	protein_coding, processed_transcript, nonsense_mediated_decay	uc009wxl.2	nonsynonymous SNV	exon34	c.A8836G	p.I2946V	WKWKELGHDLHSISIPTKLLGCASK	WKWKELGHDLHSVSIPTKLLGCASK	8.0	7.0	unscreened	-	4180_1:180064985-180064985 A>G_WKWKELGHDLHSVSIPTKLLGCASK
19:7926798-7926798 C>T	0.0	4180	BREAST	-	-	-	-	EVI5L	uc010xjz.2,p.A513V|ENST00000538904,p.A513V|ENST00000270530,p.A502V|NM_145245,p.A502V|uc002min.3,p.A502V|NM_001159944,p.A513V|ENST00000601766,p.A47V	retained_intron, protein_coding, processed_transcript	uc010xjz.2	nonsynonymous SNV	exon14	c.C1538T	p.A513V	KRNSSLPDENNVAQLQEELKALKVR	KRNSSLPDENNVVQLQEELKALKVR	6.0	2.0	unscreened	-	4180_19:7926798-7926798 C>T_KRNSSLPDENNVVQLQEELKALKVR
1:36762220-36762220 C>T	1.0	4180	BREAST	-	-	-	2	THRAP3	NM_005119,p.R718C|uc001cae.4,p.R718C|ENST00000469141,p.R718C|ENST00000354618,p.R718C|uc001caf.4,p.R718C	protein_coding, processed_transcript	uc001caf.4	nonsynonymous SNV	exon10	c.C2152T	p.R718C	AEGKYKDDPVDLRLDIERRKKHKER	AEGKYKDDPVDLCLDIERRKKHKER	9.0	10.0	-	-	4180_1:36762220-36762220 C>T_AEGKYKDDPVDLCLDIERRKKHKER
7:91718843-91718843 G>A	0.0	4180	BREAST	-	-	-	2	AKAP9	ENST00000356239,p.E3120K|NM_147185,p.E3112K|uc003uli.3,p.E2743K|uc003ulj.3,p.E890K|uc003ulf.3,p.E3112K|NM_005751,p.E3120K|ENST00000394534,p.E966K|uc003ulg.3,p.E3120K|ENST00000359028,p.E3124K|ENST00000358100,p.E3070K	retained_intron, protein_coding, processed_transcript	uc003ulj.3	nonsynonymous SNV	exon12	c.G2668A	p.E890K	LKREQESEKPSQELLEYNIQQKQSQ	LKREQESEKPSQKLLEYNIQQKQSQ	8.0	6.0	unscreened	-	4180_7:91718843-91718843 G>A_LKREQESEKPSQKLLEYNIQQKQSQ
17:14205376-14205376 C>T	0.0	4180	BREAST	-	-	-	-	HS3ST3B1	NM_006041,p.L181F|uc002goh.1,p.L181F|ENST00000466596,p.L181F|ENST00000360954,p.L181F	protein_coding, nonsense_mediated_decay	uc002goh.1	nonsynonymous SNV	exon1	c.C541T	p.L181F	EPHFFDRSYDKGLAWYRDLMPRTLD	EPHFFDRSYDKGFAWYRDLMPRTLD	5.0	10.0	unscreened	-	4180_17:14205376-14205376 C>T_EPHFFDRSYDKGFAWYRDLMPRTLD
21:38519880-38519880 T>A	0.0	4180	BREAST	-	-	-	-	TTC3	uc002ywc.3,p.Y355N|ENST00000540756,p.Y355N|ENST00000355666,p.Y665N|uc011aee.1,p.Y355N|ENST00000354749,p.Y665N|ENST00000438055,p.Y647N|uc011aed.1,p.Y355N|ENST00000399017,p.Y665N|uc002yvz.3,p.Y665N|NM_001001894,p.Y665N|uc002ywa.3,p.Y665N|ENST00000450533,p.Y665N|uc010gnf.3,p.Y430N|ENST00000418766,p.Y665N|uc002ywb.3,p.Y665N|NM_003316,p.Y665N	retained_intron, protein_coding, processed_transcript	uc011aee.1	nonsynonymous SNV	exon14	c.T1063A	p.Y355N	YQKCHGYSKIQIYITDPDFKGFIRI	YQKCHGYSKIQINITDPDFKGFIRI	9.0	4.0	unscreened	-	4180_21:38519880-38519880 T>A_YQKCHGYSKIQINITDPDFKGFIRI
6:157505557-157505557 C>T	1.0	4180	BREAST	-	-	-	1	ARID1B	ENST00000400790,p.P234S	retained_intron, protein_coding, processed_transcript	ENST00000400790	nonsynonymous SNV	exon5	c.C700T	p.P234S	STGDTKKQPKLQPPSPGKWRRCSHW	STGDTKKQPKLQSPSPGKWRRCSHW	7.0	10.0	unscreened	-	4180_6:157505557-157505557 C>T_STGDTKKQPKLQSPSPGKWRRCSHW
12:122242658-122242658 C>-	1.0	4180	BREAST	-	-	ID=COSM202522;OCCURENCE=3(large_intestine)	-	SETD1B	uc001ubi.3,p.H5fs|ENST00000267197,p.H5fs|uc021rfg.1,p.H5fs|ENST00000542440,p.H5fs|ENST00000604567,p.H5fs|NM_015048,p.H5fs	protein_coding	uc021rfg.1	frameshift deletion	exon1	c.15delC	p.H5fs	MENSHPPHHHHQQPPPQ	MENSHPPTTTTSSPRRSPALRARGGTTIGEVTS	6.0	10.0	unscreened	-	4180_12:122242658-122242658 C>-_MENSHPPTTTTSSPRRSPALRARGGTTIGEVTS
11:68179073-68179073 T>C	1.0	4180	BREAST	-	-	-	-	LRP5	uc001ont.3,p.S830P|NM_002335,p.S830P|NM_001291902,p.S249P|ENST00000294304,p.S830P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ont.3	nonsynonymous SNV	exon11	c.T2488C	p.S830P	LYWTDLDTNMIESSNMLGQERVVIA	LYWTDLDTNMIEPSNMLGQERVVIA	9.0	9.0	-	-	4180_11:68179073-68179073 T>C_LYWTDLDTNMIEPSNMLGQERVVIA
19:14991635-14991635 A>-	0.0	4180	BREAST	-	-	-	-	OR7A17	uc010xob.2,p.F178fs|NM_030901,p.F178fs|ENST00000327462,p.F178fs	protein_coding	uc010xob.2	frameshift deletion	exon1	c.533delT	p.F178fs	LSFCTDLEIPHFFCELNQVIHLACS	LSFCTDLEIPHFSVNLIRSSTLPVLTPFLMTWGCILQQGCWLVVPLWGSFALTLR	1.0	10.0	unscreened	-	4180_19:14991635-14991635 A>-_LSFCTDLEIPHFSVNLIRSSTLPVLTPFLMTWGCILQQGCWLVVPLWGSFALTLR
6:36447457-36447457 T>C	0.0	4180	BREAST	-	-	-	-	KCTD20	ENST00000265344,p.L118S	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000265344	nonsynonymous SNV	exon4	c.T353C	p.L118S	ILEILVIISALILTSTLSDVKI	ILEILVIISALISTSTLSDVKI	8.0	1.0	unscreened	-	4180_6:36447457-36447457 T>C_ILEILVIISALISTSTLSDVKI
6:24797875-24797875 A>-	0.0	4180	BREAST	-	-	-	-	C6orf229	ENST00000565469,p.F152fs|NM_001282492,p.F152fs	protein_coding	NM_001282492	frameshift deletion	exon2	c.456delT	p.F152fs	KSLQFIPILISFFEGRFESTIKSET	KSLQFIPILISFLKADSSLLSKVKQTATSSLNFGLVTFSLS	1.0	1.0	unscreened	-	4180_6:24797875-24797875 A>-_KSLQFIPILISFLKADSSLLSKVKQTATSSLNFGLVTFSLS
17:65850379-65850379 A>G	1.0	4180	BREAST	-	-	-	-	BPTF	ENST00000335221,p.S313G|ENST00000306378,p.S313G|ENST00000321892,p.S313G|NM_182641,p.S313G|uc002jgf.3,p.S313G|NM_004459,p.S313G|uc010wqm.1,p.S313G|ENST00000424123,p.S174G|uc002jge.3,p.S313G|ENST00000544778,p.S313G	retained_intron, protein_coding, processed_transcript	uc010wqm.1	nonsynonymous SNV	exon2	c.A937G	p.S313G	SNTTFGPADLKDSVNSTLYFIDGMT	SNTTFGPADLKDGVNSTLYFIDGMT	9.0	6.0	unscreened	-	4180_17:65850379-65850379 A>G_SNTTFGPADLKDGVNSTLYFIDGMT
17:76832370-76832370 ->C	0.0	4180	BREAST	-	-	-	-	USP36	ENST00000542802,p.K26fs|ENST00000586896,p.K26fs|ENST00000588086,p.K26fs|ENST00000589424,p.K26fs|uc002jwd.1,p.K26fs|uc002jvz.1,p.K26fs|NM_025090,p.K26fs|ENST00000586531,p.K26fs|ENST00000590546,p.K26fs|ENST00000312010,p.K26fs|uc002jwa.1,p.K26fs|ENST00000589225,p.K26fs|ENST00000592275,p.K26fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay	uc002jwd.1	frameshift insertion	exon3	c.75dupG	p.K26fs	GRKDSADDGELGKLLASSAKKVLLQ	GRKDSADDGELGEASCLLCQEGPFTENRVRASQQELLLPAGGLKEQICVAQPQNRGS	9.0	2.0	unscreened	-	4180_17:76832370-76832370 ->C_GRKDSADDGELGEASCLLCQEGPFTENRVRASQQELLLPAGGLKEQICVAQPQNRGS
8:139845339-139845339 ->TC	0.0	4180	BREAST	-	-	-	-	COL22A1	NM_152888,p.N263fs|uc003yvd.3,p.N263fs|ENST00000435777,p.N263fs|ENST00000303045,p.N263fs	protein_coding, processed_transcript	uc003yvd.3	frameshift insertion	exon5	c.787_788insGA	p.N263fs	LFSVKEILGKRENGAQSSYVRMGSF	LFSVKEILGKRERMELRVPMYGWDPSLWCKVLRMCSPKVYLMSTPLSQPSGSGKPLGRKTGISGRSSTSTASHRSPSGWMVKTRQSSTTLWVP	7.0	3.0	unscreened	-	4180_8:139845339-139845339 ->TC_LFSVKEILGKRERMELRVPMYGWDPSLWCKVLRMCSPKVYLMSTPLSQPSGSGKPLGRKTGISGRSSTSTASHRSPSGWMVKTRQSSTTLWVP
9:124080708-124080708 G>T	1.0	4180	BREAST	-	-	-	-	GSN	NM_001127665,p.R304M|uc010mvu.2,p.R340M|ENST00000394353,p.R315M|NM_001258029,p.R321M|ENST00000412819,p.R304M|ENST00000545652,p.R312M|NM_001127663,p.R340M|ENST00000436847,p.R315M|uc010mvr.1,p.R315M|uc011lyj.1,p.R328M|uc011lyh.2,p.R321M|ENST00000373818,p.R355M|ENST00000449733,p.R304M|uc004ble.1,p.R304M|NM_001127662,p.R304M|ENST00000373808,p.R304M|uc004blg.1,p.R86M|uc004bld.1,p.R304M|NM_001127667,p.R315M|NM_001127664,p.R304M|NM_198252,p.R304M|uc010mvt.1,p.R304M|uc010mvs.1,p.R304M|NM_001127666,p.R315M|uc010mvq.1,p.R315M|NM_000177,p.R355M|uc010mvv.1,p.R304M|ENST00000341272,p.R304M|NM_001258030,p.R312M|uc011lyi.2,p.R312M|ENST00000373807,p.R86M|ENST00000373823,p.R304M|uc004blf.1,p.R355M	protein_coding, processed_transcript	uc011lyj.1	nonsynonymous SNV	exon7	c.G983T	p.R328M	FVWKGKQANTEERKAALKTASDFIT	FVWKGKQANTEEMKAALKTASDFIT	10.0	7.0	-	-	4180_9:124080708-124080708 G>T_FVWKGKQANTEEMKAALKTASDFIT
X:53111923-53111923 G>-	0.0	4180	BREAST	-	-	ID=COSM1468475;OCCURENCE=1(large_intestine)	-	TSPYL2	NM_022117,p.E81fs|uc004drv.3,p.E81fs|uc004drw.3,p.E81fs|ENST00000375442,p.E81fs	retained_intron, protein_coding, nonsense_mediated_decay	uc004drw.3	frameshift deletion	exon1	c.243delG	p.E81fs	ALPPPPPYVILEEGGIRAYFTLGAE	ALPPPPPYVILEEGGSAHTSRSVLSVPAGILPSSRGMGRRPRPRRAWKHSPLLRPRGGAWKSIFRLYSRAVLVERGP	7.0	4.0	unscreened	-	4180_X:53111923-53111923 G>-_ALPPPPPYVILEEGGSAHTSRSVLSVPAGILPSSRGMGRRPRPRRAWKHSPLLRPRGGAWKSIFRLYSRAVLVERGP
3:50380426-50380426 C>T	1.0	4180	BREAST	-	-	ID=COSM1424177;OCCURENCE=1(large_intestine)	-	ZMYND10	NM_015896,p.R208H|ENST00000442887,p.R165H|ENST00000231749,p.R208H|uc003dag.1,p.R208H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003dag.1	nonsynonymous SNV	exon7	c.G623A	p.R208H	DCVDSLSLSTLSRMLSTHNLPCLLV	DCVDSLSLSTLSHMLSTHNLPCLLV	7.0	5.0	unscreened	-	4180_3:50380426-50380426 C>T_DCVDSLSLSTLSHMLSTHNLPCLLV
11:13441040-13441040 A>G	1.0	4180	BREAST	-	-	-	-	BTBD10	NM_032320,p.I184T|NM_001297742,p.I192T|ENST00000278174,p.I184T|uc010rcn.2,p.I153T|uc009ygo.3,p.I136T|uc010rcl.2,p.I192T|uc001mkz.3,p.I184T|NM_001297741,p.I136T|ENST00000528120,p.I136T|ENST00000527102,p.I184T|uc010rcm.2,p.I136T|ENST00000530907,p.I192T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rcn.2	nonsynonymous SNV	exon3	c.T458C	p.I153T	IVDNTRFVVDPSIFTAQPNTMLGRM	IVDNTRFVVDPSTFTAQPNTMLGRM	8.0	8.0	unscreened	-	4180_11:13441040-13441040 A>G_IVDNTRFVVDPSTFTAQPNTMLGRM
11:63149671-63149671 A>-	0.0	4180	BREAST	-	-	ID=COSM1163655;OCCURENCE=1(pancreas),2(liver),2(upper_aerodigestive_tract),2(oesophagus)	-	SLC22A9	NM_080866,p.Q332fs|ENST00000279178,p.Q332fs|uc001nww.3,p.Q332fs	protein_coding, nonsense_mediated_decay	uc001nww.3	frameshift deletion	exon6	c.995delA	p.Q332fs	LKSTMKKELEAAQKKKPSLCEMLHM	LKSTMKKELEAAQKKNLLCVKCSTCPTYVKGSPSCPLRDLQTLWPILALISMSSIWGTMFSCCRLSLVQSSSWPTVLHLGH	1.0	10.0	unscreened	-	4180_11:63149671-63149671 A>-_LKSTMKKELEAAQKKNLLCVKCSTCPTYVKGSPSCPLRDLQTLWPILALISMSSIWGTMFSCCRLSLVQSSSWPTVLHLGH
22:41926712-41926714 CTT>-	0.0	4180	BREAST	-	-	-	-	POLR3H	NM_001282884,p.180_180del|ENST00000396504,p.180_180del|NM_001282885,p.180_180del|NM_001018052,p.151_151del|ENST00000355209,p.180_180del|ENST00000337566,p.151_151del|uc003baf.3,p.180_180del|ENST00000407461,p.180_180del|NM_138338,p.180_180del|uc003bai.2,p.151_151del|NM_001018050,p.180_180del|uc003bag.2,p.180_180del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003bai.2	nonframeshift deletion	exon4	c.451_453del	p.151_151del	ADATTSSEELPKKEAPYTLVGSISE	ADATTSSEELPKEAPYTLVGSISEP	8.0	3.0	unscreened	-	4180_22:41926712-41926714 CTT>-_ADATTSSEELPKEAPYTLVGSISEP
X:153043492-153043492 C>T	0.0	4180	BREAST	-	-	-	-	PLXNB3	ENST00000361971,p.A1784V|ENST00000538776,p.A1437V|NM_001163257,p.A1807V|ENST00000538966,p.A1807V|NM_005393,p.A1784V|uc011mzd.2,p.A1437V|uc004fii.2,p.A1784V|uc010nuk.2,p.A1807V	protein_coding, processed_transcript	uc011mzd.2	nonsynonymous SNV	exon31	c.C4310T	p.A1437V	DVRVSDNVDAILAVIAQTFIDSCTT	DVRVSDNVDAILVVIAQTFIDSCTT	7.0	3.0	unscreened	-	4180_X:153043492-153043492 C>T_DVRVSDNVDAILVVIAQTFIDSCTT
X:40496266-40496266 A>T	1.0	4180	BREAST	-	-	-	-	CXorf38	NM_144970,p.I205K|uc004dev.1,p.I86K|ENST00000440784,p.I120K|ENST00000378421,p.I86K|ENST00000378426,p.I86K|uc011mko.2,p.I120K|ENST00000327877,p.I205K|uc004dew.3,p.I205K	protein_coding	uc011mko.2	nonsynonymous SNV	exon2	c.T359A	p.I120K	KNIPEIVAVYSRIEQLLTSDWAVHI	KNIPEIVAVYSRKEQLLTSDWAVHI	7.0	8.0	unscreened	-	4180_X:40496266-40496266 A>T_KNIPEIVAVYSRKEQLLTSDWAVHI
22:19175119-19175119 T>C	1.0	4180	BREAST	-	-	-	1	CLTCL1	ENST00000427926,p.N1519S|ENST00000263200,p.N1519S|uc011agt.2,p.N310S|uc021wle.1,p.N1519S|ENST00000538828,p.N41S|NM_007098,p.N1519S|uc011agw.1,p.N1498S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wle.1	nonsynonymous SNV	exon29	c.A4556G	p.N1519S	FRCIAAYLYKGNNWWAQSVELCKKD	FRCIAAYLYKGNSWWAQSVELCKKD	6.0	8.0	unscreened	-	4180_22:19175119-19175119 T>C_FRCIAAYLYKGNSWWAQSVELCKKD
3:129324939-129324939 C>T	0.0	4180	BREAST	-	-	-	-	PLXND1	NM_015103,p.V182M|ENST00000393239,p.V182M|uc003emx.2,p.V182M|ENST00000324093,p.V182M	retained_intron, protein_coding, nonsense_mediated_decay	uc003emx.2	nonsynonymous SNV	exon1	c.G544A	p.V182M	AEPVTVFPSMLNVAANHPNASTVGL	AEPVTVFPSMLNMAANHPNASTVGL	9.0	5.0	unscreened	-	4180_3:129324939-129324939 C>T_AEPVTVFPSMLNMAANHPNASTVGL
1:1247651-1247651 C>T	0.0	4180	BREAST	-	-	-	-	CPSF3L	ENST00000411962,p.R423H|uc001aei.2,p.R423H|uc001aef.2,p.R527H|ENST00000540437,p.R527H|ENST00000421495,p.R263H|uc001aek.2,p.R263H|uc001aeg.2,p.R397H|NM_001256460,p.R492H|ENST00000450926,p.R499H|NM_001256463,p.R420H|NM_001256462,p.R423H|uc010nyj.2,p.R492H|ENST00000545578,p.R492H|ENST00000419704,p.R420H|NM_001256456,p.R527H|NM_017871,p.R521H|uc009vjz.2,p.R499H|uc001aee.2,p.R521H|uc001aeh.2,p.R420H|ENST00000435064,p.R521H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010nyj.2	nonsynonymous SNV	exon16	c.G1475A	p.R492H	LRFTCRVHLHDTRKEQETALRVYSH	LRFTCRVHLHDTHKEQETALRVYSH	10.0	5.0	unscreened	-	4180_1:1247651-1247651 C>T_LRFTCRVHLHDTHKEQETALRVYSH
10:112540802-112540802 C>-	0.0	4180	BREAST	-	-	-	-	RBM20	ENST00000369519,p.G145fs|uc001kzf.2,p.G145fs|NM_001134363,p.G145fs	retained_intron, protein_coding, processed_transcript	uc001kzf.2	frameshift deletion	exon2	c.435delC	p.G145fs	LFNQLRHPSVITGPHGHAGVPQHAA	LFNQLRHPSVITGPTAMLGFPNMLQPYPVPGFPLMQLPFHPPARHEAPDPP	1.0	2.0	unscreened	-	4180_10:112540802-112540802 C>-_LFNQLRHPSVITGPTAMLGFPNMLQPYPVPGFPLMQLPFHPPARHEAPDPP
21:37605286-37605286 T>-	1.0	4180	BREAST	-	-	ID=COSM1192765;OCCURENCE=1(large_intestine)	-	DOPEY2	uc002yvg.3,p.P845fs|ENST00000399151,p.P845fs|uc011aeb.2,p.P845fs|NM_005128,p.P845fs	retained_intron, protein_coding, processed_transcript	uc011aeb.2	frameshift deletion	exon14	c.2535delT	p.P845fs	DKMKRYKSSGHNPFFGKLQMVTVPP	DKMKRYKSSGHNPFLASCRW	6.0	1.0	unscreened	-	4180_21:37605286-37605286 T>-_DKMKRYKSSGHNPFLASCRW
2:27890206-27890206 T>C	0.0	4180	BREAST	-	-	-	-	SLC4A1AP	ENST00000326019,p.F365L|ENST00000427424,p.F127L|uc002rlk.4,p.F365L|NM_018158,p.F365L	retained_intron, protein_coding, nonsense_mediated_decay	uc002rlk.4	nonsynonymous SNV	exon3	c.T1093C	p.F365L	PIVLEFQQEREAFYIKDPKKALQGF	PIVLEFQQEREALYIKDPKKALQGF	9.0	1.0	unscreened	-	4180_2:27890206-27890206 T>C_PIVLEFQQEREALYIKDPKKALQGF
6:157517361-157517361 A>G	0.0	4180	BREAST	-	-	-	1	ARID1B	NM_017519,p.M1296V|uc003qqo.3,p.M1309V|ENST00000275248,p.M1291V|ENST00000350026,p.M1296V|uc003qqp.3,p.M1296V|ENST00000414678,p.M818V|ENST00000346085,p.M1309V|ENST00000367148,p.M1349V|NM_020732,p.M1309V|uc003qqn.3,p.M1349V	retained_intron, protein_coding, processed_transcript	uc003qqp.3	nonsynonymous SNV	exon15	c.A3886G	p.M1296V	TQGQMPNSSMQDMYNQSPSGAMSNL	TQGQMPNSSMQDVYNQSPSGAMSNL	7.0	2.0	unscreened	-	4180_6:157517361-157517361 A>G_TQGQMPNSSMQDVYNQSPSGAMSNL
16:89661991-89661991 C>T	0.0	4180	BREAST	-	-	-	-	CPNE7	ENST00000268720,p.P582S|uc002fnq.3,p.P507S|NM_153636,p.P507S|NM_014427,p.P582S|uc002fnp.3,p.P582S|ENST00000319518,p.P507S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002fnq.3	nonsynonymous SNV	exon14	c.C1519T	p.P507S	GEPALRDIVQFVPFRELKNASPAAL	GEPALRDIVQFVSFRELKNASPAAL	5.0	1.0	unscreened	-	4180_16:89661991-89661991 C>T_GEPALRDIVQFVSFRELKNASPAAL
17:80439016-80439016 T>C	1.0	4180	BREAST	-	-	-	-	NARF	NM_001083608,p.L185P|uc002kfj.4,p.L185P|uc010wvp.1,p.L105P|NM_012336,p.L233P|ENST00000374611,p.L233P|ENST00000412079,p.L105P|ENST00000345415,p.L185P|ENST00000457415,p.L279P|ENST00000581202,p.L188P|ENST00000577432,p.L188P|ENST00000309794,p.L233P|uc010wvo.1,p.L188P|ENST00000390006,p.L174P|NM_001038618,p.L174P|uc002kfg.4,p.L233P|uc002kff.4,p.L174P|uc010dit.3,p.L233P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wvp.1	nonsynonymous SNV	exon7	c.T314C	p.L105P	FHVIVAPCYDKKLEALQESLPPALH	FHVIVAPCYDKKPEALQESLPPALH	10.0	9.0	unscreened	-	4180_17:80439016-80439016 T>C_FHVIVAPCYDKKPEALQESLPPALH
1:232940927-232940928 TT>-	0.0	4180	BREAST	-	-	-	-	MAP10	NM_019090,p.L53fs|uc001hvh.2,p.L53fs|ENST00000418460,p.L53fs	protein_coding	uc001hvh.2	frameshift deletion	exon1	c.158_159del	p.L53fs	CSDKTITQKTHCLLPLISSALSSIV	CSDKTITQKTHCLTTYILSIIINCLNTRLVAKNGSQVCIQRGQTH	4.0	9.0	unscreened	-	4180_1:232940927-232940928 TT>-_CSDKTITQKTHCLTTYILSIIINCLNTRLVAKNGSQVCIQRGQTH
18:3452222-3452223 CT>-	0.0	4180	BREAST	0.24	rs202189171	ID=COSM1388635;OCCURENCE=1(large_intestine)	-	TGIF1	NM_170695,p.P82fs|uc002klz.3,p.P82fs|ENST00000330513,p.P82fs	retained_intron, protein_coding, processed_transcript	uc002klz.3	frameshift deletion	exon1	c.245_246del	p.P82fs	TPSALLGSSCAPPPPPARCPQPRAL	TPSALLGSSCAPPSTGALPTAACPLPGAGDQGWAPPAASVGTSAVPIPGRTGSSSSAPTPGNNERYCCSIWQ	10.0	6.0	unscreened	-	4180_18:3452222-3452223 CT>-_TPSALLGSSCAPPSTGALPTAACPLPGAGDQGWAPPAASVGTSAVPIPGRTGSSSSAPTPGNNERYCCSIWQ
12:30867913-30867913 C>T	0.0	4180	BREAST	-	-	-	-	CAPRIN2	ENST00000251071,p.R877Q|uc001rjf.1,p.R673Q|uc001rjg.1,p.R544Q|uc001rjh.1,p.R827Q|NM_001206856,p.R821Q|uc001rjk.4,p.R876Q|uc001rjl.4,p.R821Q|NM_023925,p.R827Q|NM_001002259,p.R877Q|ENST00000395805,p.R821Q|ENST00000298892,p.R827Q|NM_032156,p.R876Q|ENST00000433722,p.R622Q|ENST00000417045,p.R876Q|uc001rjj.1,p.R543Q|uc001rji.1,p.R877Q|ENST00000308433,p.R543Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rjl.4	nonsynonymous SNV	exon14	c.G2462A	p.R821Q	CTRGGRLITNSYRSPGGYKGFDTYR	CTRGGRLITNSYQSPGGYKGFDTYR	6.0	5.0	unscreened	-	4180_12:30867913-30867913 C>T_CTRGGRLITNSYQSPGGYKGFDTYR
14:55457998-55457998 A>T	1.0	4180	BREAST	-	-	-	-	WDHD1	uc001xbn.2,p.M302K|ENST00000421192,p.M302K|uc001xbm.2,p.M425K|NM_007086,p.M425K|NM_001008396,p.M302K|ENST00000360586,p.M425K|ENST00000420358,p.M302K	retained_intron, protein_coding, nonsense_mediated_decay	uc001xbn.2	nonsynonymous SNV	exon11	c.T905A	p.M302K	LVTSQRPFYDGPMPTPRQKPFQSGS	LVTSQRPFYDGPKPTPRQKPFQSGS	7.0	9.0	unscreened	-	4180_14:55457998-55457998 A>T_LVTSQRPFYDGPKPTPRQKPFQSGS
1:150470216-150470216 G>A	0.0	4180	BREAST	-	-	-	-	TARS2	uc001euq.4,p.A411T|NM_025150,p.A411T|NM_001271895,p.A329T|uc001eur.4,p.A329T|uc009wlt.4,p.A37T|ENST00000369064,p.A411T|uc010pcd.2,p.A37T|ENST00000369054,p.A281T|uc009wls.4,p.A281T|ENST00000606933,p.A329T|uc031por.1,p.A136T|NM_001271896,p.A281T	protein_coding, processed_transcript	uc031por.1	nonsynonymous SNV	exon6	c.G406A	p.A136T	TDTLALKPMNCPAHCLMFAHRPRSW	TDTLALKPMNCPTHCLMFAHRPRSW	10.0	1.0	unscreened	-	4180_1:150470216-150470216 G>A_TDTLALKPMNCPTHCLMFAHRPRSW
17:78087132-78087132 C>T	0.0	4180	BREAST	-	-	-	-	GAA	NM_000152,p.A719V|uc002jxp.3,p.A719V|NM_001079803,p.A719V|NM_001079804,p.A719V|ENST00000302262,p.A719V|uc002jxo.3,p.A719V|uc002jxq.3,p.A719V|ENST00000390015,p.A719V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jxq.3	nonsynonymous SNV	exon15	c.C2156T	p.A719V	PHLYTLFHQAHVAGETVARPLFLEF	PHLYTLFHQAHVVGETVARPLFLEF	10.0	2.0	unscreened	-	4180_17:78087132-78087132 C>T_PHLYTLFHQAHVVGETVARPLFLEF
8:144460472-144460472 G>A	0.0	4180	BREAST	-	-	-	-	RHPN1	NM_052924,p.A139T|ENST00000289013,p.A139T|uc003yyb.3,p.A139T	retained_intron, protein_coding	uc003yyb.3	nonsynonymous SNV	exon5	c.G415A	p.A139T	KELISVHFGEDGASYEAEIRELEAL	KELISVHFGEDGTSYEAEIRELEAL	7.0	1.0	unscreened	-	4180_8:144460472-144460472 G>A_KELISVHFGEDGTSYEAEIRELEAL
11:62376488-62376488 C>-	0.0	4180	BREAST	-	-	-	-	EML3	NM_153265,p.G292fs|uc009yny.1,p.G75fs|uc001nts.1,p.G264fs|NM_001300793,p.G293fs|uc010rly.1,p.G292fs|ENST00000494176,p.G264fs|uc001ntt.1,p.G176fs|ENST00000278845,p.G293fs|ENST00000529309,p.G292fs|ENST00000531557,p.G75fs|uc001ntu.1,p.G292fs|NM_001300794,p.G292fs|uc001ntr.1,p.G264fs|ENST00000394773,p.G292fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rly.1	frameshift deletion	exon7	c.875delG	p.G292fs	VVVLYRPGGGPGGPGGGGQRHYRGH	VVVLYRPGGGPGVLEVAARDITGGTQTAFDALLFTLMVFG	7.0	4.0	unscreened	-	4180_11:62376488-62376488 C>-_VVVLYRPGGGPGVLEVAARDITGGTQTAFDALLFTLMVFG
9:111658820-111658820 A>G	1.0	4180	BREAST	-	-	-	-	IKBKAP	uc011lwc.2,p.Y784H|uc004bdm.4,p.Y898H|uc004bdl.3,p.Y549H|ENST00000374647,p.Y898H|ENST00000537196,p.Y549H|uc010mtq.3,p.Y549H|NM_003640,p.Y898H	protein_coding, processed_transcript, nonsense_mediated_decay	uc011lwc.2	nonsynonymous SNV	exon25	c.T2350C	p.Y784H	DVNELYDHSLGTYDFDLVLMVAEKS	DVNELYDHSLGTHDFDLVLMVAEKS	8.0	5.0	unscreened	-	4180_9:111658820-111658820 A>G_DVNELYDHSLGTHDFDLVLMVAEKS
1:70896000-70896000 G>A	0.0	4180	BREAST	-	-	-	-	CTH	uc010oqq.2,p.G184D|ENST00000411986,p.G184D|ENST00000346806,p.G172D|NM_153742,p.G172D|uc001dfd.3,p.G216D|uc001dfe.3,p.G172D|NM_001190463,p.G184D|NM_001902,p.G216D|ENST00000370938,p.G216D	protein_coding, processed_transcript	uc010oqq.2	nonsynonymous SNV	exon6	c.G551A	p.G184D	DISMYSATKYMNGHSDVVMGLVSVN	DISMYSATKYMNDHSDVVMGLVSVN	5.0	1.0	unscreened	-	4180_1:70896000-70896000 G>A_DISMYSATKYMNDHSDVVMGLVSVN
19:35617155-35617155 C>-	0.0	4180	BREAST	-	-	-	-	LGI4	uc002nxz.1,p.A268fs	retained_intron, protein_coding, processed_transcript	uc002nxz.1	frameshift deletion	exon6	c.802delG	p.A268fs	YIGDSMVRLGLGAGGWLFSTDPILH	YIGDSMVRLGLGRGAGFSALTQSCTLSL	5.0	10.0	unscreened	-	4180_19:35617155-35617155 C>-_YIGDSMVRLGLGRGAGFSALTQSCTLSL
1:10163068-10163068 C>A	0.0	4180	BREAST	-	-	-	-	UBE4B	NM_006048,p.F166L|ENST00000253251,p.F166L|ENST00000343090,p.F166L|uc001aqr.4,p.F166L|ENST00000377157,p.F50L|uc021ogc.1,p.F166L|NM_001105562,p.F166L|uc001aqs.4,p.F166L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ogc.1	nonsynonymous SNV	exon5	c.C498A	p.F166L	SEEQALQLVCKIFRVSWKDRDRDVI	SEEQALQLVCKILRVSWKDRDRDVI	8.0	3.0	unscreened	-	4180_1:10163068-10163068 C>A_SEEQALQLVCKILRVSWKDRDRDVI
7:130295845-130295845 A>G	0.0	4180	BREAST	-	-	-	-	COPG2	NM_001290033,p.L239S|uc003vqh.1,p.L239S	retained_intron, protein_coding	uc003vqh.1	nonsynonymous SNV	exon9	c.T716C	p.L239S	FAYCMLIRIASRLLKETEDGHESPL	FAYCMLIRIASRSLKETEDGHESPL	7.0	8.0	unscreened	-	4180_7:130295845-130295845 A>G_FAYCMLIRIASRSLKETEDGHESPL
3:17056296-17056296 G>A	1.0	4180	BREAST	-	-	-	-	PLCL2	ENST00000432376,p.D845N|ENST00000418129,p.D845N|ENST00000396755,p.D845N|NM_015184,p.D845N|uc011awd.2,p.D845N	protein_coding, processed_transcript	uc011awd.2	nonsynonymous SNV	exon3	c.G2533A	p.D845N	CMLAVSPRFLGPDNTPLVVLNLSEQ	CMLAVSPRFLGPNNTPLVVLNLSEQ	6.0	9.0	unscreened	-	4180_3:17056296-17056296 G>A_CMLAVSPRFLGPNNTPLVVLNLSEQ
7:148801176-148801176 T>C	1.0	4180	BREAST	-	-	-	-	ZNF425	ENST00000378061,p.Q596R|NM_001001661,p.Q596R|uc003wfj.3,p.Q596R	retained_intron, protein_coding, processed_transcript	uc003wfj.3	nonsynonymous SNV	exon4	c.A1787G	p.Q596R	CGECDKTYTHQSQLTEHLRLHSGEK	CGECDKTYTHQSRLTEHLRLHSGEK	5.0	4.0	unscreened	-	4180_7:148801176-148801176 T>C_CGECDKTYTHQSRLTEHLRLHSGEK
17:72951953-72951953 G>-	0.0	4180	BREAST	-	-	-	-	HID1	ENST00000425042,p.Q524fs|NM_030630,p.Q524fs|uc010wrs.2,p.Q323fs|uc002jmj.4,p.Q524fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wrs.2	frameshift deletion	exon13	c.967delC	p.Q323fs	AFSTTWFLFSAAQNHHLVFFLLEVF	AFSTTWFLFSAARTTTWSSSSWRSSTTSSSTSLMATPTWSTPSSASAASSTSWPTCPRTRPPFTRPCSGAGGHLSPCLAPAPRRAPPWRAPAPLPLQSQAPSRPVWWLLQALTS	6.0	2.0	unscreened	-	4180_17:72951953-72951953 G>-_AFSTTWFLFSAARTTTWSSSSWRSSTTSSSTSLMATPTWSTPSSASAASSTSWPTCPRTRPPFTRPCSGAGGHLSPCLAPAPRRAPPWRAPAPLPLQSQAPSRPVWWLLQALTS
19:6713459-6713459 C>T	0.0	4180	BREAST	-	-	-	-	C3	ENST00000245907,p.E279K|NM_000064,p.E279K|uc002mfm.3,p.E279K	retained_intron, protein_coding, processed_transcript	uc002mfm.3	nonsynonymous SNV	exon8	c.G835A	p.E279K	GTAFVIFGIQDGEQRISLPESLKRI	GTAFVIFGIQDGKQRISLPESLKRI	10.0	3.0	unscreened	-	4180_19:6713459-6713459 C>T_GTAFVIFGIQDGKQRISLPESLKRI
21:46952020-46952020 C>T	0.0	4180	BREAST	-	-	-	-	SLC19A1	uc010gpy.1,p.A78T|NM_001205206,p.A78T|uc002zhm.2,p.A78T|uc002zhl.2,p.A78T|ENST00000311124,p.A78T|ENST00000485649,p.A38T|ENST00000567670,p.A78T|NM_194255,p.A78T|uc011aft.2,p.A38T|ENST00000427839,p.A78T|ENST00000443742,p.A78T|NM_001205207,p.A38T|ENST00000380010,p.A78T	protein_coding, processed_transcript	uc011aft.2	nonsynonymous SNV	exon2	c.G112A	p.A38T	NEITPVLSYSYLAVLVPVFLLTDYL	NEITPVLSYSYLTVLVPVFLLTDYL	7.0	1.0	unscreened	-	4180_21:46952020-46952020 C>T_NEITPVLSYSYLTVLVPVFLLTDYL
3:129275531-129275531 A>T	1.0	4180	BREAST	-	-	-	-	PLXND1	NM_015103,p.Y1864N|uc003emw.2,p.Y20N|ENST00000324093,p.Y1864N|uc011blb.1,p.Y533N|uc003emx.2,p.Y1864N|ENST00000504689,p.Y20N	retained_intron, protein_coding, nonsense_mediated_decay	uc011blb.1	nonsynonymous SNV	exon14	c.T1597A	p.Y533N	EMNAHLAEESRKYQNEFNTNVAMAE	EMNAHLAEESRKNQNEFNTNVAMAE	9.0	6.0	-	-	4180_3:129275531-129275531 A>T_EMNAHLAEESRKNQNEFNTNVAMAE
1:166962024-166962024 A>G	0.0	4180	BREAST	-	-	-	-	MAEL	ENST00000367870,p.K112E|uc021peh.1,p.K87E|NM_001286378,p.K87E|NM_032858,p.K143E|NM_001286377,p.K112E|uc001gdy.1,p.K143E|ENST00000367872,p.K143E|uc001gdz.1,p.K112E|ENST00000447624,p.K112E	protein_coding, processed_transcript	uc021peh.1	nonsynonymous SNV	exon5	c.A259G	p.K87E	EQRFLPCEIGCVKYSLQEGIMADFH	EQRFLPCEIGCVEYSLQEGIMADFH	1.0	5.0	unscreened	-	4180_1:166962024-166962024 A>G_EQRFLPCEIGCVEYSLQEGIMADFH
10:26513550-26513550 G>-	0.0	4180	BREAST	-	-	-	-	GAD2	ENST00000376261,p.G232fs|NM_000818,p.G232fs|uc001isp.2,p.G232fs|ENST00000259271,p.G232fs|NM_001134366,p.G232fs|uc001isq.2,p.G232fs	protein_coding	uc001isq.2	frameshift deletion	exon6	c.694delG	p.G232fs	TLKKMREIIGWPGGSGDGIFSPGGA	TLKKMREIIGWPGALAMGYFLPVAPYLTCMP	1.0	7.0	unscreened	-	4180_10:26513550-26513550 G>-_TLKKMREIIGWPGALAMGYFLPVAPYLTCMP
1:167095383-167095383 C>T	1.0	4180	BREAST	-	-	-	-	DUSP27	ENST00000361200,p.L339F|uc001geb.1,p.L339F|ENST00000271385,p.L339F|NM_001080426,p.L339F|ENST00000443333,p.L339F	protein_coding, processed_transcript	uc001geb.1	nonsynonymous SNV	exon5	c.C1015T	p.L339F	SSLGKATQASKPLTLIDEEEEEKLY	SSLGKATQASKPFTLIDEEEEEKLY	8.0	2.0	unscreened	-	4180_1:167095383-167095383 C>T_SSLGKATQASKPFTLIDEEEEEKLY
14:72190414-72190414 G>A	1.0	4180	BREAST	-	-	-	-	SIPA1L1	uc001xms.3,p.R1441Q|uc001xmv.3,p.R1441Q|ENST00000555818,p.R1441Q|uc001xmt.3,p.R1420Q|uc001xmu.3,p.R1420Q|NM_015556,p.R1441Q|NM_001284245,p.R1420Q|ENST00000381232,p.R1420Q|uc010ttm.2,p.R895Q|NM_001284246,p.R1420Q|ENST00000358550,p.R1420Q|NM_001284247,p.R1441Q|ENST00000537413,p.R895Q	retained_intron, protein_coding, processed_transcript	uc010ttm.2	nonsynonymous SNV	exon14	c.G2684A	p.R895Q	RHSASPVVFTSARSSPKEELHPAAP	RHSASPVVFTSAQSSPKEELHPAAP	8.0	10.0	-	-	4180_14:72190414-72190414 G>A_RHSASPVVFTSAQSSPKEELHPAAP
1:156703944-156703944 ->G	1.0	4180	BREAST	-	-	-	-	RRNAD1	ENST00000368216,p.C260fs|ENST00000519086,p.C239fs|uc001fpu.3,p.C260fs|NM_015997,p.C260fs	retained_intron, protein_coding, processed_transcript	uc001fpu.3	frameshift insertion	exon6	c.781dupG	p.C260fs	GRARLLLTGLHACGDLSVALLRHFS	GRARLLLTGLHACGGSECCLAETLLLLS	9.0	6.0	unscreened	-	4180_1:156703944-156703944 ->G_GRARLLLTGLHACGGSECCLAETLLLLS
15:73016929-73016929 C>A	0.0	4180	BREAST	-	-	-	-	BBS4	ENST00000268057,p.L174M|uc002avb.3,p.L174M|uc010ukv.2,p.L162M|ENST00000395205,p.L182M|uc002avd.3,p.L182M|ENST00000569338,p.L171M|ENST00000539603,p.L162M|NM_033028,p.L174M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ukv.2	nonsynonymous SNV	exon9	c.C484A	p.L162M	LNLNRHDLTYIMLGKIHLLEGDLDK	LNLNRHDLTYIMMGKIHLLEGDLDK	6.0	1.0	unscreened	-	4180_15:73016929-73016929 C>A_LNLNRHDLTYIMMGKIHLLEGDLDK
22:20918817-20918822 CAGCAG>-	1.0	4180	BREAST	-	-	-	-	MED15	ENST00000263205,p.178_179del|uc011aht.1,p.152_153del|uc002zss.3,p.97_98del|NM_001003891,p.178_179del|ENST00000425759,p.67_68del|NM_015889,p.178_179del|NM_001293237,p.152_153del|uc002zso.2,p.107_108del|NM_001293234,p.178_179del|NM_001293235,p.152_153del|ENST00000541476,p.152_153del|uc002zsr.3,p.152_153del|uc010gso.3,p.178_179del|uc011ahs.2,p.152_153del|ENST00000406969,p.152_153del|ENST00000292733,p.178_179del|uc002zsq.3,p.178_179del|uc002zsn.1,p.97_98del|NM_001293236,p.107_108del|ENST00000382974,p.107_108del|ENST00000428629,p.60_61del|uc002zsp.3,p.178_179del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011aht.1	nonframeshift deletion	exon6	c.454_459del	p.152_153del	QQQFQQQQQAALQQQQQQQQQQQFQ	QQQFQQQQQAALQQQQQQQQQFQAQ	9.0	7.0	unscreened	-	4180_22:20918817-20918822 CAGCAG>-_QQQFQQQQQAALQQQQQQQQQFQAQ
11:5624691-5624693 AAG>-	0.0	4180	BREAST	-	-	-	-	TRIM6,TRIM6-TRIM34	uc001mbc.2,p.50_51del|uc001mbf.3,p.78_79del|ENST00000354852,p.78_79del|ENST00000380097,p.78_79del|uc009yeo.2,p.50_51del|NM_001003818,p.78_79del|ENST00000278302,p.50_51del|uc001mbd.3,p.78_79del|NM_058166,p.50_51del|ENST00000380107,p.50_51del|NM_001003819,p.78_79del	retained_intron, protein_coding, processed_transcript	uc009yeo.2	nonframeshift deletion	exon2	c.149_151del	p.50_51del	CITPNGRESVIGQEGERSCPVCQTS	CITPNGRESVIGQGERSCPVCQTSY	6.0	8.0	unscreened	-	4180_11:5624691-5624693 AAG>-_CITPNGRESVIGQGERSCPVCQTSY
12:54368980-54368980 G>A	1.0	4180	BREAST	-	-	-	1	HOXC11	ENST00000546378,p.R233H|NM_014212,p.R233H|uc001sem.3,p.R233H	protein_coding	uc001sem.3	nonsynonymous SNV	exon2	c.G698A	p.R233H	PAKGAAPNAPRTRKKRCPYSKFQIR	PAKGAAPNAPRTHKKRCPYSKFQIR	8.0	6.0	unscreened	-	4180_12:54368980-54368980 G>A_PAKGAAPNAPRTHKKRCPYSKFQIR
2:120799645-120799645 G>A	0.0	4180	BREAST	-	-	ID=COSM212274;OCCURENCE=1(breast)	-	EPB41L5	uc010flk.3,p.D82N|uc002tmg.3,p.D82N|NM_001184939,p.D82N|ENST00000452780,p.D82N|ENST00000443902,p.D82N|uc002tmh.4,p.D82N|NM_020909,p.D82N|NM_001184937,p.D82N|uc010fll.3,p.D82N|ENST00000263713,p.D82N|ENST00000443124,p.D82N|ENST00000331393,p.D82N|NM_001184938,p.D82N	retained_intron, protein_coding, processed_transcript	uc010fll.3	nonsynonymous SNV	exon3	c.G244A	p.D82N	DQIMYHLDLIESDYFGLRFMDSAQV	DQIMYHLDLIESNYFGLRFMDSAQV	8.0	3.0	unscreened	-	4180_2:120799645-120799645 G>A_DQIMYHLDLIESNYFGLRFMDSAQV
12:95434330-95434330 T>C	1.0	4180	BREAST	-	-	-	-	NR2C1	uc001tdo.4,p.Y392C|NM_001032287,p.Y392C|ENST00000333003,p.Y392C|NM_001127362,p.Y392C|ENST00000330677,p.Y392C|ENST00000393101,p.Y392C|uc001tdm.5,p.Y392C|NM_003297,p.Y392C|uc001tdn.4,p.Y392C|uc010suu.1,p.Y392C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010suu.1	nonsynonymous SNV	exon9	c.A1175G	p.Y392C	MPSPMPEYLNVHYIGESASRLLFLS	MPSPMPEYLNVHCIGESASRLLFLS	8.0	5.0	unscreened	-	4180_12:95434330-95434330 T>C_MPSPMPEYLNVHCIGESASRLLFLS
12:56398639-56398639 G>A	0.0	4180	BREAST	0.0005	-	-	-	SUOX	ENST00000356124,p.R489H|ENST00000550065,p.R489H|NM_001032387,p.R489H|ENST00000394115,p.R489H|ENST00000266971,p.R489H|NM_001032386,p.R489H|ENST00000548274,p.R489H|ENST00000394109,p.R489H|uc001siy.3,p.R489H|NM_000456,p.R489H|uc001sja.3,p.R489H|uc001siz.3,p.R489H|uc001six.3,p.R489H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sja.3	nonsynonymous SNV	exon3	c.G1466A	p.R489H	GEEQRPRKAWAWRLWQLKAPVPAGQ	GEEQRPRKAWAWHLWQLKAPVPAGQ	7.0	2.0	unscreened	-	4180_12:56398639-56398639 G>A_GEEQRPRKAWAWHLWQLKAPVPAGQ
15:44127283-44127283 G>A	1.0	4180	BREAST	-	-	ID=COSM3794191;OCCURENCE=1(urinary_tract)	-	WDR76	uc021skg.1,p.E99K|NM_001167941,p.E99K|uc001zti.2,p.E163K|ENST00000452115,p.E99K|ENST00000263795,p.E163K|NM_024908,p.E163K|ENST00000381246,p.E99K	protein_coding, processed_transcript	uc021skg.1	nonsynonymous SNV	exon3	c.G295A	p.E99K	TPSLDFSGLSPYERKRLKNISENAD	TPSLDFSGLSPYKRKRLKNISENAD	9.0	7.0	-	-	4180_15:44127283-44127283 G>A_TPSLDFSGLSPYKRKRLKNISENAD
3:53909975-53909975 C>T	0.0	4180	BREAST	0.0005	-	-	-	ACTR8	ENST00000231909,p.R54H|uc003dhb.3,p.R54H	retained_intron, protein_coding, processed_transcript	uc003dhb.3	nonsynonymous SNV	exon3	c.G161A	p.R54H	CCVEDGVSHRNTRIFSWNQDISGLQ	CCVEDGVSHRNTHIFSWNQDISGLQ	8.0	2.0	unscreened	-	4180_3:53909975-53909975 C>T_CCVEDGVSHRNTHIFSWNQDISGLQ
12:111180460-111180460 T>A	0.0	4180	BREAST	-	-	-	-	PPP1CC	ENST00000550991,p.E18V|NM_002710,p.E18V|ENST00000340766,p.E18V|ENST00000335007,p.E18V|NM_001244974,p.E18V|ENST00000551676,p.E18V|uc001tru.3,p.E18V|uc021rdx.1,p.E18V	retained_intron, protein_coding, processed_transcript	uc021rdx.1	nonsynonymous SNV	exon1	c.A53T	p.E18V	KLNIDSIIQRLLEVRGSKPGKNVQL	KLNIDSIIQRLLVVRGSKPGKNVQL	10.0	4.0	unscreened	-	4180_12:111180460-111180460 T>A_KLNIDSIIQRLLVVRGSKPGKNVQL
5:160753407-160753407 G>A	0.0	4180	BREAST	-	-	ID=COSM449249;OCCURENCE=1(large_intestine),1(breast),3(central_nervous_system)	-	GABRB2	uc003lys.1,p.R387W|ENST00000393959,p.R387W|ENST00000274547,p.R387W|NM_021911,p.R387W	retained_intron, protein_coding, processed_transcript	uc003lys.1	nonsynonymous SNV	exon10	c.C1159T	p.R387W	LWDPTGNLSPTRRTTNYDFSLYTMD	LWDPTGNLSPTRWTTNYDFSLYTMD	1.0	9.0	unscreened	-	4180_5:160753407-160753407 G>A_LWDPTGNLSPTRWTTNYDFSLYTMD
6:82459839-82459839 A>G	1.0	4180	BREAST	-	-	-	-	FAM46A	NM_017633,p.V301A|ENST00000320172,p.V301A|ENST00000369754,p.V320A|uc003pjf.3,p.V320A|ENST00000369756,p.V382A|uc003pjg.3,p.V301A	protein_coding	uc003pjg.3	nonsynonymous SNV	exon3	c.T902C	p.V301A	RGGGLLKYCNLLVRGFRPASDEIKT	RGGGLLKYCNLLARGFRPASDEIKT	8.0	7.0	unscreened	-	4180_6:82459839-82459839 A>G_RGGGLLKYCNLLARGFRPASDEIKT
3:49933455-49933455 ->C	0.0	4180	BREAST	-	-	-	-	MST1R	NM_002447,p.D912fs|uc031rzw.1,p.D806fs|uc003cxy.4,p.D912fs|ENST00000296474,p.D912fs|ENST00000411578,p.D912fs	retained_intron, protein_coding, nonsense_mediated_decay	uc031rzw.1	frameshift insertion	exon9	c.2416dupG	p.D806fs	VGGESCQHEFRGDMVVCPLPPSLQL	VGGESCQHEFRGGHGCLPPAPIPAAWPGWCPIAGLRRW	6.0	3.0	unscreened	-	4180_3:49933455-49933455 ->C_VGGESCQHEFRGGHGCLPPAPIPAAWPGWCPIAGLRRW
7:100732490-100732490 G>T	0.0	4180	BREAST	-	-	-	-	TRIM56	uc003uxq.3,p.G633C|ENST00000306085,p.G633C|uc022aiw.1,p.G633C|NM_030961,p.G633C	retained_intron, protein_coding, processed_transcript	uc022aiw.1	nonsynonymous SNV	exon1	c.G1897T	p.G633C	ATRFIPGGKASRGLRALVFLTTSPQ	ATRFIPGGKASRCLRALVFLTTSPQ	8.0	1.0	unscreened	-	4180_7:100732490-100732490 G>T_ATRFIPGGKASRCLRALVFLTTSPQ
7:99758204-99758204 G>A	0.0	4180	BREAST	-	-	-	-	GAL3ST4	uc022aii.1,p.R208C|ENST00000413800,p.R270C|uc003utt.3,p.R270C|ENST00000426974,p.R208C|ENST00000360039,p.R270C|NM_024637,p.R270C|uc003utu.3,p.R270C	retained_intron, protein_coding, processed_transcript	uc022aii.1	nonsynonymous SNV	exon2	c.C622T	p.R208C	ALIHPVSTVTDHRSQISSPASFDLG	ALIHPVSTVTDHCSQISSPASFDLG	6.0	9.0	unscreened	-	4180_7:99758204-99758204 G>A_ALIHPVSTVTDHCSQISSPASFDLG
7:101839974-101839974 C>-	0.0	4180	BREAST	-	-	ID=COSM1568185;OCCURENCE=1(large_intestine)	1	CUX1	uc003uyx.4,p.A428fs|NM_181552,p.A428fs|ENST00000549414,p.A428fs|ENST00000550008,p.A428fs|uc003uys.4,p.A439fs|NM_001202543,p.A439fs|ENST00000360264,p.A439fs|ENST00000292535,p.A428fs	retained_intron, protein_coding, processed_transcript	uc003uyx.4	frameshift deletion	exon15	c.1283delC	p.A428fs	DQPESRRPGSLPAPPPSQLPRNPGE	DQPESRRPGSLPAPLLLSCPATRGSRLPILMVHTSSHQRG	9.0	3.0	unscreened	-	4180_7:101839974-101839974 C>-_DQPESRRPGSLPAPLLLSCPATRGSRLPILMVHTSSHQRG
8:133856440-133856440 A>-	0.0	4180	BREAST	-	-	-	-	PHF20L1	ENST00000395386,p.K930fs|uc003ytt.3,p.K930fs|NM_001277196,p.K904fs|ENST00000220847,p.K317fs|uc011lja.2,p.K904fs|NM_016018,p.K930fs|ENST00000395390,p.K905fs	retained_intron, protein_coding, nonsense_mediated_decay	uc011lja.2	frameshift deletion	exon19	c.2710delA	p.K904fs	PAEGNTVFVYNDKKGTEDPGDSHLQ	PAEGNTVFVYNDKRAPKTQETHIFSGSSISLHT	9.0	1.0	unscreened	-	4180_8:133856440-133856440 A>-_PAEGNTVFVYNDKRAPKTQETHIFSGSSISLHT
18:252542-252542 G>A	0.0	4180	BREAST	-	-	ID=COSM172322;OCCURENCE=1(large_intestine)	-	THOC1	ENST00000580038,p.T225M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000580038	nonsynonymous SNV	exon9	c.C674T	p.T225M	EEGEMGDEEAPTTWITSGTLCNAMR	EEGEMGDEEAPTMWITSGTLCNAMR	9.0	1.0	unscreened	-	4180_18:252542-252542 G>A_EEGEMGDEEAPTMWITSGTLCNAMR
14:95562886-95562905 TAACATATTATCTATAAATC>-	0.0	4180	BREAST	-	-	-	1	DICER1	uc001ydw.2,p.R1451fs|ENST00000343455,p.R1451fs|ENST00000541352,p.R1451fs|ENST00000527414,p.R1451fs|uc021sbc.1,p.R1451fs|NM_001271282,p.R1451fs|uc001ydv.3,p.R1451fs|ENST00000526495,p.R1451fs|uc001ydy.1,p.R303fs|NM_177438,p.R1451fs|NM_001291628,p.R1451fs|NM_030621,p.R1451fs|uc010avh.1,p.R349fs|uc001ydx.2,p.R1451fs|ENST00000393063,p.R1451fs|ENST00000556045,p.R349fs|NM_001195573,p.R1451fs	retained_intron, protein_coding, processed_transcript	uc021sbc.1	frameshift deletion	exon22	c.4352_4371del	p.R1451fs	EDDFLEYDQEHIRFIDNMLMGSGAF	EDDFLEYDQEHINGVRSFCKENLSFSFFNH	8.0	4.0	unscreened	-	4180_14:95562886-95562905 TAACATATTATCTATAAATC>-_EDDFLEYDQEHINGVRSFCKENLSFSFFNH
18:23845277-23845277 C>A	1.0	4180	BREAST	-	-	-	-	TAF4B	ENST00000400466,p.P163T|uc002kvu.4,p.P163T|uc002kvt.4,p.P163T|ENST00000418698,p.P163T|NM_001293725,p.P163T|ENST00000269142,p.P163T|ENST00000578121,p.P163T|NM_005640,p.P163T	protein_coding, nonsense_mediated_decay	uc002kvu.4	nonsynonymous SNV	exon2	c.C487A	p.P163T	PANPQTVKICTVPNSSSQLIKKVAV	PANPQTVKICTVTNSSSQLIKKVAV	6.0	9.0	unscreened	-	4180_18:23845277-23845277 C>A_PANPQTVKICTVTNSSSQLIKKVAV
15:51350110-51350110 T>A	1.0	4180	BREAST	-	-	-	-	TNFAIP8L3	uc001zyy.3,p.I283F|ENST00000327536,p.I283F|NM_207381,p.I283F	protein_coding	uc001zyy.3	nonsynonymous SNV	exon3	c.A847T	p.I283F	DCRPNLKRICEGINKLLDEKVL	DCRPNLKRICEGFNKLLDEKVL	5.0	8.0	unscreened	-	4180_15:51350110-51350110 T>A_DCRPNLKRICEGFNKLLDEKVL
1:158736091-158736091 G>A	0.0	4180	BREAST	-	-	-	-	OR6N1	uc010piq.2,p.R128W|ENST00000335094,p.R128W|NM_001005185,p.R128W	protein_coding	uc010piq.2	nonsynonymous SNV	exon1	c.C382T	p.R128W	TAMAYDRYLAICRPLHYPTLMTPTL	TAMAYDRYLAICWPLHYPTLMTPTL	1.0	7.0	unscreened	-	4180_1:158736091-158736091 G>A_TAMAYDRYLAICWPLHYPTLMTPTL
19:37441799-37441799 G>T	0.0	4180	BREAST	-	-	-	-	ZNF568	uc002ofd.3,p.G518W|ENST00000333987,p.G582W|uc021uts.1,p.G581W|uc010efe.3,p.G518W|NM_001204836,p.G518W|uc002ofc.3,p.G582W|ENST00000415168,p.G518W|NM_001204837,p.G518W|NM_198539,p.G582W|NM_001204835,p.G581W|ENST00000587857,p.G518W	retained_intron, protein_coding	uc021uts.1	nonsynonymous SNV	exon7	c.G1741T	p.G581W	ISSLTLHVRSHTGEKPYECNKCGKA	ISSLTLHVRSHTWEKPYECNKCGKA	6.0	3.0	unscreened	-	4180_19:37441799-37441799 G>T_ISSLTLHVRSHTWEKPYECNKCGKA
3:45943215-45943215 T>C	0.0	4180	BREAST	-	-	ID=COSM1045207;OCCURENCE=1(endometrium)	-	CCR9	uc021wwv.1,p.L300P|ENST00000355983,p.L300P|NM_006641,p.L300P|ENST00000357632,p.L312P|NM_001256369,p.L300P|uc003coz.2,p.L312P|ENST00000395963,p.L300P|NM_031200,p.L312P|uc010hiv.2,p.L300P|uc003cpa.2,p.L300P	retained_intron, protein_coding	uc021wwv.1	nonsynonymous SNV	exon1	c.T899C	p.L300P	QVTQTIAFFHSCLNPVLYVFVGERF	QVTQTIAFFHSCPNPVLYVFVGERF	2.0	8.0	unscreened	-	4180_3:45943215-45943215 T>C_QVTQTIAFFHSCPNPVLYVFVGERF
3:196876651-196876651 A>T	1.0	4180	BREAST	-	-	-	-	DLG1	ENST00000392382,p.V167E|NM_001204386,p.V167E|uc011bue.2,p.V167E|ENST00000456699,p.V167E|ENST00000357674,p.V167E|ENST00000450955,p.V167E|uc010iam.1,p.V167E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bue.2	nonsynonymous SNV	exon6	c.T500A	p.V167E	SHISPIKANPPPVLVNTDSLETPTY	SHISPIKANPPPELVNTDSLETPTY	9.0	9.0	unscreened	-	4180_3:196876651-196876651 A>T_SHISPIKANPPPELVNTDSLETPTY
1:16531655-16531655 T>C	1.0	4180	BREAST	-	-	-	-	ARHGEF19	ENST00000270747,p.N558S|uc001ayc.1,p.N558S|NM_153213,p.N558S	protein_coding, processed_transcript	uc001ayc.1	nonsynonymous SNV	exon11	c.A1673G	p.N558S	AFNALKELVQECNASVQSMKRTEEL	AFNALKELVQECSASVQSMKRTEEL	8.0	8.0	unscreened	-	4180_1:16531655-16531655 T>C_AFNALKELVQECSASVQSMKRTEEL
19:17039884-17039884 C>-	0.0	4180	BREAST	-	-	ID=COSM1391351;OCCURENCE=3(large_intestine)	-	CPAMD8	ENST00000443236,p.G1051fs|uc002nfb.3,p.G1051fs|NM_015692,p.G1051fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nfb.3	frameshift deletion	exon24	c.3153delG	p.G1051fs	QDTAGMIEIVLGGHQNTRSWISTSK	QDTAGMIEIVLGGIRTPGHGSPPARWESPWPVHTRPRSSPGMNSEHSGSAGVVALSRLAMVQSHPMSLSLWPGPSRGHQRSSSLAFPPAGAPWVNSESGGRWRWTRATARPSPWGSHTAPSLGLSEPPPPSSGTSWGQP	5.0	3.0	unscreened	-	4180_19:17039884-17039884 C>-_QDTAGMIEIVLGGIRTPGHGSPPARWESPWPVHTRPRSSPGMNSEHSGSAGVVALSRLAMVQSHPMSLSLWPGPSRGHQRSSSLAFPPAGAPWVNSESGGRWRWTRATARPSPWGSHTAPSLGLSEPPPPSSGTSWGQP
1:205272963-205272963 A>G	1.0	4180	BREAST	-	-	-	-	NUAK2	NM_030952,p.I501T|uc001hce.3,p.I501T|ENST00000367157,p.I501T	protein_coding	uc001hce.3	nonsynonymous SNV	exon7	c.T1502C	p.I501T	PQASGLLLHRKGILKLNGKFSQTAL	PQASGLLLHRKGTLKLNGKFSQTAL	4.0	7.0	unscreened	-	4180_1:205272963-205272963 A>G_PQASGLLLHRKGTLKLNGKFSQTAL
13:115057211-115057211 A>-	1.0	4180	BREAST	-	-	ID=COSM1180797;OCCURENCE=4(large_intestine)	-	UPF3A	ENST00000351487,p.K231fs|uc001vuq.3,p.K231fs|uc001vup.3,p.K264fs|NM_023011,p.K264fs|ENST00000375299,p.K264fs|NM_080687,p.K231fs|uc001vut.3,p.K63fs	protein_coding, processed_transcript	uc001vut.3	frameshift deletion	exon3	c.187delA	p.K63fs	EEKRRRREEERCKKKETDKQKKIAE	EEKRRRREEERCKKKRQINRRKLQRKK	9.0	4.0	unscreened	-	4180_13:115057211-115057211 A>-_EEKRRRREEERCKKKRQINRRKLQRKK
9:130159749-130159749 A>G	0.0	4180	BREAST	-	-	-	-	SLC2A8	uc010mxj.4,p.I51V|NM_014580,p.I51V|uc004bqu.4,p.I51V|ENST00000373360,p.I51V|ENST00000373371,p.I51V|NM_001271711,p.I51V|ENST00000419917,p.I51V	protein_coding, processed_transcript	uc010mxj.4	nonsynonymous SNV	exon2	c.A151G	p.I51V	SFGFALGYSSPAIPSLQRAAPPAPR	SFGFALGYSSPAVPSLQRAAPPAPR	7.0	4.0	unscreened	-	4180_9:130159749-130159749 A>G_SFGFALGYSSPAVPSLQRAAPPAPR
6:36467707-36467707 A>G	1.0	4180	BREAST	-	-	-	-	STK38	uc003omg.3,p.Y299H|uc003omh.3,p.Y299H|uc003omi.3,p.Y299H|ENST00000229812,p.Y299H|NM_007271,p.Y299H	protein_coding	uc003omi.3	nonsynonymous SNV	exon10	c.T895C	p.Y299H	DYIAPEVFMQTGYNKLCDWWSLGVI	DYIAPEVFMQTGHNKLCDWWSLGVI	8.0	5.0	unscreened	-	4180_6:36467707-36467707 A>G_DYIAPEVFMQTGHNKLCDWWSLGVI
3:196876651-196876651 A>T	1.0	4180	BREAST	-	-	-	-	DLG1	ENST00000452595,p.V84E|ENST00000443183,p.V84E|NM_001204387,p.V84E|NM_001204388,p.V84E|uc010ian.2,p.V84E|ENST00000447466,p.V26E|uc011buc.2,p.V84E|uc011bub.2,p.V84E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011buc.2	nonsynonymous SNV	exon2	c.T251A	p.V84E	VATSSTQANPPPVLVNTDSLETPTY	VATSSTQANPPPELVNTDSLETPTY	9.0	9.0	unscreened	-	4180_3:196876651-196876651 A>T_VATSSTQANPPPELVNTDSLETPTY
14:45716019-45716020 TT>-	0.0	4180	BREAST	-	-	-	-	MIS18BP1	NM_018353,p.K157fs|ENST00000310806,p.K157fs|ENST00000454990,p.K157fs|uc001wwf.3,p.K157fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wwf.3	frameshift deletion	exon2	c.470_471del	p.K157fs	NETFTPNRVEKKKLQHTYLCEEKEN	NETFTPNRVEKKIAAYLPM	9.0	3.0	unscreened	-	4180_14:45716019-45716020 TT>-_NETFTPNRVEKKIAAYLPM
19:7963654-7963654 G>A	0.0	4180	BREAST	-	-	-	-	LRRC8E	uc002mir.3,p.A83T|NM_001268284,p.A83T|ENST00000306708,p.A83T|ENST00000593511,p.A83T|ENST00000599367,p.A83T|ENST00000598224,p.A83T|uc031rje.1,p.A83T|NM_025061,p.A83T	protein_coding	uc031rje.1	nonsynonymous SNV	exon4	c.G247A	p.A83T	QLLPRGIPEQIGALQEVKGLKNNLD	QLLPRGIPEQIGTLQEVKGLKNNLD	8.0	1.0	unscreened	-	4180_19:7963654-7963654 G>A_QLLPRGIPEQIGTLQEVKGLKNNLD
4:5843100-5843100 G>T	0.0	4180	BREAST	-	-	-	-	CRMP1	uc003giq.3,p.P249H|NM_001288661,p.P247H|uc003gir.3,p.P244H|uc003gis.3,p.P363H|NM_001014809,p.P363H|NM_001288662,p.P243H|ENST00000512574,p.P247H|NM_001313,p.P249H|ENST00000397890,p.P249H|ENST00000324989,p.P363H	protein_coding, processed_transcript	uc003gis.3	nonsynonymous SNV	exon8	c.C1088A	p.P363H	FRAITIAGRINCPVYITKVMSKSAA	FRAITIAGRINCHVYITKVMSKSAA	5.0	4.0	unscreened	-	4180_4:5843100-5843100 G>T_FRAITIAGRINCHVYITKVMSKSAA
19:58421263-58421263 T>-	0.0	4180	BREAST	-	-	-	-	ZNF417	uc002qqr.3,p.N127fs|ENST00000595559,p.N127fs|NM_001297734,p.N127fs|ENST00000312026,p.N128fs|uc002qqq.3,p.N128fs|uc010yhm.2,p.N85fs|NM_152475,p.N128fs	protein_coding	uc010yhm.2	frameshift deletion	exon4	c.254delA	p.N85fs	KQKLNRSGACGKNLDDTAYLHQHQK	KQKLNRSGACGKTWMTLHTFISTRSSILERNSTERVSEKHRL	6.0	2.0	unscreened	-	4180_19:58421263-58421263 T>-_KQKLNRSGACGKTWMTLHTFISTRSSILERNSTERVSEKHRL
3:112991288-112991288 C>-	0.0	4180	BREAST	-	-	-	-	BOC	uc003dzx.3,p.Y233fs|ENST00000273395,p.Y233fs|NM_033254,p.Y233fs|ENST00000355385,p.Y233fs|uc003dzy.3,p.Y233fs|uc003dzz.3,p.Y233fs|ENST00000495514,p.Y233fs|NM_001301861,p.Y233fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003dzz.3	frameshift deletion	exon7	c.699delC	p.Y233fs	VRRSTAEAARIIYPPEAQTIIVTKG	VRRSTAEAARIIYPQRPKPSSSPKARVSFWSVWPVESHPHGSPGPRMGPVSPATTRRASC	6.0	1.0	unscreened	-	4180_3:112991288-112991288 C>-_VRRSTAEAARIIYPQRPKPSSSPKARVSFWSVWPVESHPHGSPGPRMGPVSPATTRRASC
2:204305619-204305619 G>-	0.0	4180	BREAST	-	-	ID=COSM1404676;OCCURENCE=4(large_intestine)	-	RAPH1	NM_213589,p.P765fs|ENST00000374493,p.P817fs|uc002vad.3,p.P765fs|ENST00000319170,p.P765fs	retained_intron, protein_coding	uc002vad.3	frameshift deletion	exon14	c.2294delC	p.P765fs	QHITQVAPPTPPPPPPIPAPLPPQA	QHITQVAPPTPPHLLLSLHPSLPKLPQNPL	8.0	6.0	unscreened	-	4180_2:204305619-204305619 G>-_QHITQVAPPTPPHLLLSLHPSLPKLPQNPL
4:5713183-5713183 G>A	0.0	4180	BREAST	-	-	-	-	EVC	ENST00000509451,p.A26T|ENST00000382674,p.A26T|ENST00000264956,p.A26T|uc003gil.1,p.A26T|NM_153717,p.A26T	retained_intron, protein_coding, processed_transcript	uc003gil.1	nonsynonymous SNV	exon1	c.G76A	p.A26T	LLLGRDALRPAPALLAPAVLLGAAL	LLLGRDALRPAPTLLAPAVLLGAAL	6.0	4.0	unscreened	-	4180_4:5713183-5713183 G>A_LLLGRDALRPAPTLLAPAVLLGAAL
9:130829063-130829063 C>-	0.0	4180	BREAST	-	-	ID=COSM1460168;OCCURENCE=1(large_intestine)	-	NAIF1	ENST00000373078,p.G106fs|uc004bta.3,p.G106fs|NM_197956,p.G106fs	protein_coding, processed_transcript	uc004bta.3	frameshift deletion	exon1	c.318delG	p.G106fs	EAPGPTEEDGAGGPGTGGGSGGGGP	EAPGPTEEDGAGGLGQAVAVVAVAQL	7.0	2.0	unscreened	-	4180_9:130829063-130829063 C>-_EAPGPTEEDGAGGLGQAVAVVAVAQL
20:3674319-3674319 C>T	0.0	4180	BREAST	-	-	-	-	SIGLEC1	uc002wiz.4,p.A1095T|NM_023068,p.A1095T|ENST00000344754,p.A1095T|uc002wja.3,p.A1095T|ENST00000202578,p.A1095T	protein_coding	uc002wja.3	nonsynonymous SNV	exon13	c.G3283A	p.A1095T	DAQAVNVQVWPGATVREGQLVNLTC	DAQAVNVQVWPGTTVREGQLVNLTC	6.0	9.0	unscreened	-	4180_20:3674319-3674319 C>T_DAQAVNVQVWPGTTVREGQLVNLTC
15:64968157-64968157 C>T	1.0	4180	BREAST	-	-	-	-	ZNF609	uc002ann.3,p.A1035V|ENST00000326648,p.A1035V|NM_015042,p.A1035V	protein_coding, processed_transcript	uc002ann.3	nonsynonymous SNV	exon4	c.C3104T	p.A1035V	KKAEMGLKEREAALKEEWKQKPSIP	KKAEMGLKEREAVLKEEWKQKPSIP	7.0	7.0	unscreened	-	4180_15:64968157-64968157 C>T_KKAEMGLKEREAVLKEEWKQKPSIP
3:50211766-50211766 C>T	1.0	4180	BREAST	-	-	-	-	SEMA3F	ENST00000414301,p.R147C|ENST00000450338,p.R147C|uc003cyk.3,p.R147C|ENST00000420831,p.R111C|ENST00000434342,p.R147C|ENST00000413852,p.R79C	retained_intron, protein_coding	uc003cyk.3	nonsynonymous SNV	exon5	c.C439T	p.R147C	TGAYNPMCTYVNRGRRAQDYIFYLE	TGAYNPMCTYVNCGRRAQDYIFYLE	9.0	8.0	-	-	4180_3:50211766-50211766 C>T_TGAYNPMCTYVNCGRRAQDYIFYLE
16:30777536-30777536 G>A	0.0	4180	BREAST	-	-	-	-	RNF40	NM_014771,p.R349H|uc010caa.3,p.R349H|uc002dzr.3,p.R349H|NM_001286572,p.R349H|ENST00000324685,p.R349H|uc002dzq.3,p.R349H|NM_001207033,p.R349H	retained_intron, protein_coding, processed_transcript	uc010caa.3	nonsynonymous SNV	exon9	c.G1046A	p.R349H	AELEENQELANSRMAELEKLQAELQ	AELEENQELANSHMAELEKLQAELQ	9.0	3.0	unscreened	-	4180_16:30777536-30777536 G>A_AELEENQELANSHMAELEKLQAELQ
17:7798765-7798765 C>-	0.0	4180	BREAST	-	-	ID=COSM1387351;OCCURENCE=5(large_intestine)	-	CHD3	uc002gjg.1,p.P366fs|ENST00000330494,p.P538fs|ENST00000358181,p.P538fs|NM_005852,p.P538fs|NM_001005273,p.P538fs|NM_001005271,p.P597fs|uc002gjf.2,p.P538fs|uc002gje.2,p.P538fs|ENST00000380358,p.P597fs|uc002gjd.2,p.P597fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gjg.1	frameshift deletion	exon7	c.1096delC	p.P366fs	APQQADGNPDVPPPRPLQGRSEREF	APQQADGNPDVPPPVLFKADQSESSLSSG	9.0	3.0	unscreened	-	4180_17:7798765-7798765 C>-_APQQADGNPDVPPPVLFKADQSESSLSSG
12:22440114-22440114 A>T	0.0	4180	BREAST	-	-	-	-	ST8SIA1	ENST00000539510,p.L11M|uc009zix.3,p.L11M	protein_coding, processed_transcript, nonsense_mediated_decay	uc009zix.3	nonsynonymous SNV	exon2	c.T31A	p.L11M	MTGSFYTHSPLTIQLTLSSHRCN	MTGSFYTHSPMTIQLTLSSHRCN	5.0	9.0	unscreened	-	4180_12:22440114-22440114 A>T_MTGSFYTHSPMTIQLTLSSHRCN
10:94834815-94834815 G>A	0.0	4180	BREAST	-	-	ID=COSM921533;OCCURENCE=1(endometrium)	-	CYP26A1	ENST00000394139,p.G163R|NM_000783,p.G232R|ENST00000224356,p.G232R|uc001kik.1,p.G163R|uc001kil.2,p.G232R|NM_057157,p.G163R|ENST00000371531,p.G163R	protein_coding	uc001kil.2	nonsynonymous SNV	exon3	c.G694A	p.G232R	NLFSLPIDVPFSGLYRGMKARNLIH	NLFSLPIDVPFSRLYRGMKARNLIH	1.0	10.0	unscreened	-	4180_10:94834815-94834815 G>A_NLFSLPIDVPFSRLYRGMKARNLIH
9:86571166-86571166 C>T	1.0	4180	BREAST	-	-	-	-	C9orf64	NM_032307,p.E84K|ENST00000376344,p.E84K|uc004anb.3,p.E84K	protein_coding	uc004anb.3	nonsynonymous SNV	exon1	c.G250A	p.E84K	DTLNFSFWSEQDEHKCVVRYRGKTY	DTLNFSFWSEQDKHKCVVRYRGKTY	8.0	10.0	-	-	4180_9:86571166-86571166 C>T_DTLNFSFWSEQDKHKCVVRYRGKTY
19:55873797-55873797 G>A	0.0	4180	BREAST	-	-	ID=COSM3389396,COSM3389397;OCCURENCE=1(pancreas)	-	FAM71E2	ENST00000424985,p.S127L|uc002qkr.2,p.S127L|NM_001145402,p.S127L|uc002qkq.3,p.S59L	protein_coding, nonsense_mediated_decay	uc002qkr.2	nonsynonymous SNV	exon3	c.C380T	p.S127L	DLSAWRLKLRLVSGRQYYLALDAPD	DLSAWRLKLRLVLGRQYYLALDAPD	1.0	10.0	unscreened	-	4180_19:55873797-55873797 G>A_DLSAWRLKLRLVLGRQYYLALDAPD
3:186282090-186282090 A>C	1.0	4180	BREAST	-	-	-	-	TBCCD1	NM_001134415,p.V10G|ENST00000413695,p.V10G|ENST00000338733,p.V10G|NM_018138,p.V10G|ENST00000424280,p.V10G|uc003fqg.3,p.V10G|uc011bry.2,p.V10G|ENST00000430560,p.V10G	protein_coding, processed_transcript	uc011bry.2	nonsynonymous SNV	exon2	c.T29G	p.V10G	MDQSRVLLWVKAEPFIVGALQV	MDQSRVLLWGKAEPFIVGALQV	7.0	8.0	unscreened	-	4180_3:186282090-186282090 A>C_MDQSRVLLWGKAEPFIVGALQV
10:26513550-26513550 G>-	0.0	4180	BREAST	-	-	-	-	GAD2	ENST00000376248,p.G118fs	protein_coding	ENST00000376248	frameshift deletion	exon4	c.352delG	p.G118fs	TLKKMREIIGWPGGSGDGIFSPGT	TLKKMREIIGWPGALAMGYFLPVH	1.0	7.0	unscreened	-	4180_10:26513550-26513550 G>-_TLKKMREIIGWPGALAMGYFLPVH
X:153178990-153178990 T>A	0.0	4180	BREAST	-	-	-	-	ARHGAP4	NM_001164741,p.D440V|ENST00000537206,p.D377V|uc004fjk.2,p.D400V|ENST00000393721,p.D222V|uc004fjl.2,p.D440V|ENST00000420383,p.D400V|ENST00000350060,p.D400V|NM_001666,p.D400V|uc011mzf.2,p.D377V|ENST00000370016,p.D379V|ENST00000370028,p.D440V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011mzf.2	nonsynonymous SNV	exon9	c.A1130T	p.D377V	QALLEVVASDDGDVLDSFQTSPSTE	QALLEVVASDDGVVLDSFQTSPSTE	9.0	4.0	unscreened	-	4180_X:153178990-153178990 T>A_QALLEVVASDDGVVLDSFQTSPSTE
14:102718303-102718303 T>-	0.0	4180	BREAST	-	-	ID=COSM1368347;OCCURENCE=2(large_intestine)	-	MOK	ENST00000521388,p.N51fs|ENST00000518399,p.N51fs|ENST00000518482,p.N51fs|ENST00000521766,p.N51fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000521766	frameshift deletion	exon3	c.152delA	p.N51fs	FEREKIPIIRKKNYALYVPVM	FEREKIPIIRKKIMHYMYQLC	8.0	9.0	unscreened	-	4180_14:102718303-102718303 T>-_FEREKIPIIRKKIMHYMYQLC
14:102718303-102718303 T>-	0.0	4180	BREAST	-	-	ID=COSM1368347;OCCURENCE=2(large_intestine)	-	MOK	ENST00000562292,p.N81fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000562292	frameshift deletion	exon4	c.242delA	p.N81fs	VVLEKIPIIRKKNYALYVPVM	VVLEKIPIIRKKIMHYMYQLC	8.0	9.0	unscreened	-	4180_14:102718303-102718303 T>-_VVLEKIPIIRKKIMHYMYQLC
2:120979531-120979531 G>-	1.0	4180	BREAST	-	-	-	-	TMEM185B	ENST00000426077,p.P341fs|NM_024121,p.P341fs|uc002tmj.2,p.P341fs	protein_coding	uc002tmj.2	frameshift deletion	exon1	c.1022delC	p.P341fs	VITQSPGKYVPPPPKLNIDMPD	VITQSPGKYVPPLPS	7.0	10.0	unscreened	-	4180_2:120979531-120979531 G>-_VITQSPGKYVPPLPS
7:92140335-92140335 C>T	0.0	4180	BREAST	-	-	-	-	PEX1	uc011khr.2,p.V296I|uc003uly.3,p.V504I|uc011khs.2,p.V182I|ENST00000438045,p.V182I|NM_000466,p.V504I|ENST00000248633,p.V504I|ENST00000428214,p.V504I|uc010ley.3,p.V504I|NM_001282677,p.V504I|NM_001282678,p.V296I	retained_intron, protein_coding, nonsense_mediated_decay	uc011khs.2	nonsynonymous SNV	exon5	c.G544A	p.V182I	TKDGLKEFSLSIVHSWEKEKDKNIF	TKDGLKEFSLSIIHSWEKEKDKNIF	7.0	5.0	unscreened	-	4180_7:92140335-92140335 C>T_TKDGLKEFSLSIIHSWEKEKDKNIF
13:103399819-103399819 T>-	0.0	4180	BREAST	-	-	-	-	CCDC168	uc001vpm.3,p.K1076fs|NM_001146197,p.K1076fs	protein_coding, processed_transcript	uc001vpm.3	frameshift deletion	exon4	c.3228delA	p.K1076fs	TLPYFKRQEIKKKLSETKSVLSVKY	TLPYFKRQEIKKNYQKQKVYSVSNM	8.0	8.0	unscreened	-	4180_13:103399819-103399819 T>-_TLPYFKRQEIKKNYQKQKVYSVSNM
3:49877797-49877798 CT>-	0.0	4180	BREAST	-	-	-	-	TRAIP	uc010hla.1,p.T139fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hla.1	frameshift deletion	exon6	c.417_418del	p.T139fs	KAEMLCSTLKLQTVYSELDQAKLEL	KAEMLCSTLKLQTLL	8.0	2.0	unscreened	-	4180_3:49877797-49877798 CT>-_KAEMLCSTLKLQTLL
19:53269255-53269255 G>T	0.0	4180	BREAST	-	-	-	-	ZNF600	ENST00000338230,p.T585K|uc002qab.4,p.T585K|NM_198457,p.T585K|uc021uyz.1,p.T585K	protein_coding, processed_transcript	uc021uyz.1	nonsynonymous SNV	exon1	c.C1754A	p.T585K	RRLHTGEKSYKCTVCDKAFVRNSYL	RRLHTGEKSYKCKVCDKAFVRNSYL	7.0	2.0	unscreened	-	4180_19:53269255-53269255 G>T_RRLHTGEKSYKCKVCDKAFVRNSYL
21:30698395-30698395 T>-	1.0	4180	BREAST	-	-	-	-	BACH1	ENST00000451655,p.F84fs|ENST00000435072,p.F84fs|NM_206866,p.F84fs|uc002ynj.3,p.F84fs|ENST00000286800,p.F84fs|ENST00000399921,p.F84fs|ENST00000447177,p.F84fs|uc002ynk.3,p.F84fs|NM_001186,p.F84fs	protein_coding, processed_transcript	uc002ynk.3	frameshift deletion	exon3	c.250delT	p.F84fs	NITLPEEVTVKGFEPLIQFAYTAKL	NITLPEEVTVKGLNL	7.0	8.0	unscreened	-	4180_21:30698395-30698395 T>-_NITLPEEVTVKGLNL
22:30891764-30891764 G>-	0.0	4180	BREAST	-	-	-	-	SEC14L4	ENST00000321205,p.P63fs	protein_coding, nonsense_mediated_decay	ENST00000321205	frameshift deletion	exon4	c.188delC	p.P63fs	KSEDMLRRTQVPPAHLLSPRSESLA	KSEDMLRRTQVPQPTSCPHALRAWHMEFRKQQDLDNIVTWQPP	2.0	1.0	unscreened	-	4180_22:30891764-30891764 G>-_KSEDMLRRTQVPQPTSCPHALRAWHMEFRKQQDLDNIVTWQPP
20:62292787-62292787 T>G	1.0	4180	BREAST	-	-	-	-	RTEL1	ENST00000508582,p.L80R|uc002yfv.2,p.L80R|ENST00000370018,p.L80R|ENST00000360203,p.L80R|ENST00000318100,p.L80R|uc011abd.2,p.L80R|ENST00000492259,p.L80R|NM_016434,p.L80R|NM_032957,p.L80R|uc002yfu.2,p.L80R|NM_001283009,p.L80R|ENST00000482936,p.L80R|ENST00000356810,p.L80R	 nonsense_mediated_decay,protein_coding, processed_transcript	uc011abd.2	nonsynonymous SNV	exon3	c.T239G	p.L80R	SARKIAERAQGELFPDRALSSWGNA	SARKIAERAQGERFPDRALSSWGNA	6.0	8.0	unscreened	-	4180_20:62292787-62292787 T>G_SARKIAERAQGERFPDRALSSWGNA
6:35554797-35554797 A>G	0.0	4180	BREAST	-	-	-	-	FKBP5	NM_001145777,p.Y255H|uc003okz.2,p.Y255H|ENST00000542713,p.Y255H	protein_coding	uc003okz.2	nonsynonymous SNV	exon7	c.T763C	p.Y255H	RREPYTSRCVSPYAILSISKNLFKC	RREPYTSRCVSPHAILSISKNLFKC	9.0	9.0	unscreened	-	4180_6:35554797-35554797 A>G_RREPYTSRCVSPHAILSISKNLFKC
9:138392889-138392889 C>-	0.0	4180	BREAST	-	-	-	-	MRPS2	uc004cfv.5,p.T30fs|NM_016034,p.T30fs|ENST00000371785,p.T30fs|ENST00000453385,p.T44fs|ENST00000241600,p.T30fs	protein_coding, processed_transcript	uc004cfv.5	frameshift deletion	exon2	c.89delC	p.T30fs	APSRWLGFLGKATPRPARPSRRTLG	APSRWLGFLGKATPGLLGRAAGRLEARRPL	10.0	2.0	unscreened	-	4180_9:138392889-138392889 C>-_APSRWLGFLGKATPGLLGRAAGRLEARRPL
17:25930880-25930880 G>A	0.0	4180	BREAST	-	-	-	-	KSR1	ENST00000398982,p.A246T|ENST00000509603,p.A511T|uc002gzm.3,p.A175T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gzm.3	nonsynonymous SNV	exon7	c.G523A	p.A175T	QFIFPDISAFAHAAPLPEAADGTRL	QFIFPDISAFAHTAPLPEAADGTRL	8.0	7.0	unscreened	-	4180_17:25930880-25930880 G>A_QFIFPDISAFAHTAPLPEAADGTRL
3:7621013-7621013 T>-	0.0	4180	BREAST	-	-	ID=COSM1425351;OCCURENCE=2(large_intestine)	-	GRM7	uc010hch.1,p.I318fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hch.1	frameshift deletion	exon6	c.953delT	p.I318fs	YTTCIVWLAFIPIFFGTAQSAEKHQ	YTTCIVWLAFIPIFLAPLNQRKSISLLRITASSSIYVPAKDMTHAFLWLYSIPWSQAFP	1.0	3.0	unscreened	-	4180_3:7621013-7621013 T>-_YTTCIVWLAFIPIFLAPLNQRKSISLLRITASSSIYVPAKDMTHAFLWLYSIPWSQAFP
9:19063047-19063047 T>-	0.0	4180	BREAST	-	-	ID=COSM1461651;OCCURENCE=1(large_intestine)	-	HAUS6	uc003znm.1,p.S285fs|uc003znk.4,p.S530fs|ENST00000380502,p.S530fs|uc003znl.1,p.S394fs|ENST00000415524,p.S46fs|uc011lmz.3,p.S495fs|ENST00000380496,p.S394fs|NM_017645,p.S530fs|NM_001270890,p.S495fs|uc022bdv.2,p.S394fs	protein_coding	uc022bdv.2	frameshift deletion	exon12	c.1180delA	p.S394fs	SSAFGGSLPAKKSDPFQKEQDHLVE	SSAFGGSLPAKKVIHFKKSKIIW	7.0	2.0	unscreened	-	4180_9:19063047-19063047 T>-_SSAFGGSLPAKKVIHFKKSKIIW
X:65423345-65423347 AGA>-	0.0	4180	BREAST	-	-	-	-	HEPH	uc011moz.2,p.793_794del|uc004dwn.3,p.742_743del|uc010nkr.3,p.550_551del|uc004dwo.3,p.472_473del|NM_138737,p.793_794del|NM_014799,p.472_473del|ENST00000343002,p.739_740del|uc011mpa.2,p.742_743del|ENST00000519389,p.793_794del|ENST00000441993,p.742_743del|NM_001282141,p.550_551del|ENST00000374727,p.742_743del|uc010nks.3,p.31_32del|ENST00000336279,p.472_473del|NM_001130860,p.742_743del|ENST00000419594,p.550_551del	retained_intron, protein_coding, nonsense_mediated_decay	uc011mpa.2	nonframeshift deletion	exon12	c.2226_2228del	p.742_743del	QRYQAARIYYIMAEEVEWDYCPDRS	QRYQAARIYYIMAEVEWDYCPDRSW	6.0	5.0	unscreened	-	4180_X:65423345-65423347 AGA>-_QRYQAARIYYIMAEVEWDYCPDRSW
2:211336779-211336779 G>A	1.0	4180	BREAST	-	-	-	-	LANCL1	NM_001136575,p.R35C|ENST00000443314,p.R35C|ENST00000450366,p.R35C|ENST00000441020,p.R35C|ENST00000431941,p.R35C|uc010fuq.3,p.R35C|ENST00000233714,p.R35C|ENST00000453956,p.R35C|NM_006055,p.R35C|uc002ved.3,p.R35C|uc010zjh.2,p.R35C|ENST00000448951,p.R35C|NM_001136574,p.R35C	protein_coding, nonsense_mediated_decay	uc010zjh.2	nonsynonymous SNV	exon3	c.C103T	p.R35C	DAAGRLTPEFSQRLTNKIRELLQQM	DAAGRLTPEFSQCLTNKIRELLQQM	8.0	8.0	unscreened	-	4180_2:211336779-211336779 G>A_DAAGRLTPEFSQCLTNKIRELLQQM
5:133861426-133861426 G>-	0.0	4180	BREAST	-	-	-	-	JADE2	uc003kzk.2,p.L14fs|NM_001289985,p.L14fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003kzk.2	frameshift deletion	exon1	c.42delG	p.L14fs	VPTAAIAVGGYFLGGMEEKRRKYSI	VPTAAIAVGGYFLGGWKRRGENTPSAVTTLTPLTVMRHLHPHQDAPNCPAAPSRAGPDRTKRSPPRFSGQT	7.0	10.0	unscreened	-	4180_5:133861426-133861426 G>-_VPTAAIAVGGYFLGGWKRRGENTPSAVTTLTPLTVMRHLHPHQDAPNCPAAPSRAGPDRTKRSPPRFSGQT
8:144942162-144942162 G>T	0.0	4180	BREAST	-	-	-	-	EPPK1	NM_031308,p.L1754M|ENST00000525985,p.L1754M|uc003zaa.1,p.L1754M	protein_coding	uc003zaa.1	nonsynonymous SNV	exon1	c.C5260A	p.L1754M	LLERCVEDPETGLYLLQIIKKGENY	LLERCVEDPETGMYLLQIIKKGENY	6.0	1.0	unscreened	-	4180_8:144942162-144942162 G>T_LLERCVEDPETGMYLLQIIKKGENY
X:137717719-137717719 C>T	0.0	4180	BREAST	-	-	-	-	FGF13	ENST00000436198,p.R177Q|uc011mwj.2,p.R177Q|ENST00000441825,p.R148Q|ENST00000370603,p.R177Q|NM_001139501,p.R148Q|uc004faq.3,p.R177Q|uc004far.3,p.R148Q|ENST00000455663,p.R183Q|NM_001139502,p.R148Q|uc011mwi.2,p.R148Q|NM_033642,p.R114Q|ENST00000541469,p.R121Q|ENST00000305414,p.R114Q|ENST00000315930,p.R167Q|NM_001139498,p.R121Q|uc004fam.3,p.R167Q|uc011mwk.2,p.R121Q|NM_004114,p.R167Q|NM_001139500,p.R177Q|uc004fan.3,p.R114Q	protein_coding	uc011mwk.2	nonsynonymous SNV	exon5	c.G362A	p.R121Q	YSSMIYRQQQSGRGWYLGLNKEGEI	YSSMIYRQQQSGQGWYLGLNKEGEI	7.0	4.0	unscreened	-	4180_X:137717719-137717719 C>T_YSSMIYRQQQSGQGWYLGLNKEGEI
6:151671630-151671630 G>-	0.0	4180	BREAST	-	-	-	-	AKAP12	uc003qoe.3,p.G702fs|ENST00000402676,p.G702fs|ENST00000253332,p.G702fs|uc003qog.3,p.G597fs|NM_144497,p.G604fs|uc011eep.2,p.G702fs|uc003qof.3,p.G604fs|NM_005100,p.G702fs|ENST00000359755,p.G597fs|ENST00000354675,p.G604fs	protein_coding, processed_transcript	uc011eep.2	frameshift deletion	exon4	c.2104delG	p.G702fs	KRARRGSSSDEEGGPKAMGGDHQKA	KRARRGSSSDEEGDQKQWEETTRKLMRPEKTKRRGQTGSLLVPKNMIQGREVPPRSKLEALPKGRAFPPGSHLKG	5.0	6.0	unscreened	-	4180_6:151671630-151671630 G>-_KRARRGSSSDEEGDQKQWEETTRKLMRPEKTKRRGQTGSLLVPKNMIQGREVPPRSKLEALPKGRAFPPGSHLKG
11:33358693-33358693 T>-	0.0	4180	BREAST	-	-	-	-	HIPK3	NM_001278162,p.F432fs|NM_001278163,p.F432fs|uc031pzm.1,p.F432fs|uc001mum.2,p.F432fs|NM_001048200,p.F432fs|NM_005734,p.F432fs|uc001mul.2,p.F432fs|ENST00000525975,p.F432fs|ENST00000456517,p.F432fs|uc009yjv.2,p.F432fs|ENST00000379016,p.F432fs|ENST00000303296,p.F432fs	protein_coding, processed_transcript	uc031pzm.1	frameshift deletion	exon4	c.1294delT	p.F432fs	EQLLNVGTKSTRFFCKETDMSHSGW	EQLLNVGTKSTRFFAKKQICLILVGD	8.0	5.0	unscreened	-	4180_11:33358693-33358693 T>-_EQLLNVGTKSTRFFAKKQICLILVGD
19:58118289-58118289 A>C	1.0	4180	BREAST	-	-	-	-	ZNF530	ENST00000600619,p.S466R|ENST00000332854,p.S466R|uc002qpk.2,p.S466R|NM_020880,p.S466R	retained_intron, protein_coding, nonsense_mediated_decay	uc002qpk.2	nonsynonymous SNV	exon3	c.A1396C	p.S466R	RRAHTKTKPYECSECEKSFSCKTDL	RRAHTKTKPYECRECEKSFSCKTDL	6.0	8.0	unscreened	-	4180_19:58118289-58118289 A>C_RRAHTKTKPYECRECEKSFSCKTDL
3:134084683-134084683 T>C	0.0	4180	BREAST	-	-	-	-	AMOTL2	uc003eqe.1,p.M44V|ENST00000513145,p.M419V|uc003eqh.1,p.M419V|uc003eqf.2,p.M477V|ENST00000514516,p.M477V|ENST00000249883,p.M419V|uc003eqg.1,p.M419V|NM_016201,p.M419V|NM_001278683,p.M477V|ENST00000422605,p.M419V|NM_001278685,p.M419V	retained_intron, protein_coding, processed_transcript	uc003eqh.1	nonsynonymous SNV	exon5	c.A1255G	p.M419V	SKTQEAQAGSQDMVAKLLAQSYEQQ	SKTQEAQAGSQDVVAKLLAQSYEQQ	7.0	4.0	unscreened	-	4180_3:134084683-134084683 T>C_SKTQEAQAGSQDVVAKLLAQSYEQQ
15:88678547-88678547 G>-	0.0	4180	BREAST	-	-	-	1	NTRK3	uc010upl.1,p.P232fs|NM_001012338,p.P330fs|ENST00000540489,p.P330fs|ENST00000394480,p.P330fs|ENST00000542733,p.P232fs|uc002bmg.3,p.P330fs|NM_002530,p.P330fs|NM_001007156,p.P330fs|ENST00000317501,p.P330fs|uc002bmf.2,p.P330fs|ENST00000360948,p.P330fs|ENST00000355254,p.P330fs|uc002bme.2,p.P330fs	protein_coding, processed_transcript	uc010upl.1	frameshift deletion	exon8	c.695delC	p.P232fs	EHCIEFVVRGNPPPTLHWLHNGQPL	EHCIEFVVRGNPHQRCTGCTMGSLCGSPRSSMWNTTKRERFPRAACSSTSPPTTTMATIPSLPKTHWAQPTRPSMATSSRSPFQRARITLSCLTK	3.0	4.0	unscreened	-	4180_15:88678547-88678547 G>-_EHCIEFVVRGNPHQRCTGCTMGSLCGSPRSSMWNTTKRERFPRAACSSTSPPTTTMATIPSLPKTHWAQPTRPSMATSSRSPFQRARITLSCLTK
15:88678547-88678547 G>-	0.0	4180	BREAST	-	-	-	1	NTRK3	NM_001243101,p.P330fs|ENST00000557856,p.P330fs|ENST00000357724,p.P330fs|uc010bnh.1,p.P330fs|uc021sua.1,p.P330fs|ENST00000558676,p.P330fs|uc002bmh.2,p.P330fs	protein_coding, processed_transcript	uc021sua.1	frameshift deletion	exon10	c.989delC	p.P330fs	EHCIEFVVRGNPPPTLHWLHNGQPL	EHCIEFVVRGNPHQRCTGCTMGSLCGSPRSSMWNTTKRERFPRAACSSTSPPTTTMATIPSLPKTHWAQPTRPSMATSSRSPFQLTK	3.0	4.0	unscreened	-	4180_15:88678547-88678547 G>-_EHCIEFVVRGNPHQRCTGCTMGSLCGSPRSSMWNTTKRERFPRAACSSTSPPTTTMATIPSLPKTHWAQPTRPSMATSSRSPFQLTK
13:52971921-52971921 C>T	0.0	4180	BREAST	-	-	-	-	THSD1	uc001vgp.3,p.C156Y|NM_018676,p.C156Y|uc001vgo.3,p.C156Y|NM_199263,p.C156Y|ENST00000349258,p.C156Y|ENST00000258613,p.C156Y	protein_coding	uc001vgp.3	nonsynonymous SNV	exon3	c.G467A	p.C156Y	TFQVGLFTSQPLCPFPVDKPNIVVD	TFQVGLFTSQPLYPFPVDKPNIVVD	4.0	9.0	unscreened	-	4180_13:52971921-52971921 C>T_TFQVGLFTSQPLYPFPVDKPNIVVD
4:17814640-17814640 T>C	0.0	4180	BREAST	-	-	-	-	NCAPG	ENST00000514176,p.V139A|ENST00000251496,p.V139A|uc003gpp.4,p.V139A|NM_022346,p.V139A	retained_intron, protein_coding, nonsense_mediated_decay	uc003gpp.4	nonsynonymous SNV	exon3	c.T416C	p.V139A	GSMPENAQIDDDVFDKINKAMLIRL	GSMPENAQIDDDAFDKINKAMLIRL	9.0	3.0	unscreened	-	4180_4:17814640-17814640 T>C_GSMPENAQIDDDAFDKINKAMLIRL
19:7524799-7524801 GAG>-	1.0	4180	BREAST	-	-	-	-	ARHGEF18	NM_001130955,p.603_603del|uc002mgj.1,p.246_246del|uc002mgi.3,p.603_603del|ENST00000319670,p.445_445del|ENST00000359920,p.603_603del|uc010xjm.1,p.445_445del|NM_015318,p.445_445del|uc002mgh.3,p.445_445del	retained_intron, protein_coding	uc010xjm.1	nonframeshift deletion	exon12	c.1333_1335del	p.445_445del	AHIQRAVESCPDEEEGPFSLPEEER	AHIQRAVESCPDEEGPFSLPEEERK	8.0	7.0	unscreened	-	4180_19:7524799-7524801 GAG>-_AHIQRAVESCPDEEGPFSLPEEERK
8:144991486-144991486 T>C	1.0	4180	BREAST	-	-	-	-	PLEC	uc003zab.1,p.Y4168C|NM_201379,p.Y4146C|ENST00000357649,p.Y4172C|NM_201380,p.Y4305C|uc003zah.2,p.Y4154C|NM_201383,p.Y4172C|uc003zae.1,p.Y4136C|ENST00000354958,p.Y4146C|NM_201382,p.Y4168C|uc003zad.2,p.Y4168C|ENST00000436759,p.Y4195C|uc003zaj.2,p.Y4195C|uc003zag.1,p.Y4146C|ENST00000398774,p.Y4136C|NM_201381,p.Y4136C|ENST00000345136,p.Y4168C|NM_000445,p.Y4195C|uc003zaf.1,p.Y4305C|NM_201384,p.Y4168C|ENST00000322810,p.Y4305C|ENST00000356346,p.Y4154C|NM_201378,p.Y4154C|uc003zac.1,p.Y4172C|ENST00000527096,p.Y4191C|ENST00000354589,p.Y4168C	retained_intron, protein_coding	uc003zaj.2	nonsynonymous SNV	exon33	c.A12584G	p.Y4195C	EAYRKGLIDHQTYLELSEQECEWEE	EAYRKGLIDHQTCLELSEQECEWEE	9.0	6.0	unscreened	-	4180_8:144991486-144991486 T>C_EAYRKGLIDHQTCLELSEQECEWEE
17:79615137-79615137 C>T	0.0	4180	BREAST	-	-	-	-	TSPAN10	ENST00000328585,p.S294L	protein_coding, processed_transcript, polymorphic_pseudogene	ENST00000328585	nonsynonymous SNV	exon4	c.C881T	p.S294L	PLRRWLRANLAASGGYAIAVVLLQG	PLRRWLRANLAALGGYAIAVVLLQG	5.0	7.0	unscreened	-	4180_17:79615137-79615137 C>T_PLRRWLRANLAALGGYAIAVVLLQG
12:69652489-69652489 C>T	1.0	4180	BREAST	-	-	-	-	CPSF6	ENST00000435070,p.R272C|uc001sut.4,p.R272C|uc001suu.4,p.R309C|NM_007007,p.R272C|NM_001300947,p.R309C|ENST00000266679,p.R309C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001suu.4	nonsynonymous SNV	exon7	c.C925T	p.R309C	PPPLAGPPNRGDRPPPPVLFPGQPF	PPPLAGPPNRGDCPPPPVLFPGQPF	10.0	9.0	-	-	4180_12:69652489-69652489 C>T_PPPLAGPPNRGDCPPPPVLFPGQPF
12:69652489-69652489 C>T	1.0	4180	BREAST	-	-	-	-	CPSF6	ENST00000456847,p.R199C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000456847	nonsynonymous SNV	exon6	c.C595T	p.R199C	GPPGAGPPNRGDRPPPPVLFPGQPF	GPPGAGPPNRGDCPPPPVLFPGQPF	10.0	9.0	-	-	4180_12:69652489-69652489 C>T_GPPGAGPPNRGDCPPPPVLFPGQPF
8:53452422-53452423 AT>-	0.0	4180	BREAST	-	-	-	-	FAM150A	uc003xrd.3,p.Y98fs|NM_207413,p.Y98fs|ENST00000358543,p.Y98fs	protein_coding	uc003xrd.3	frameshift deletion	exon3	c.293_294del	p.Y98fs	FSPECSKHFHRLYYNTRECSTPAYY	FSPECSKHFHRLLQYQGVLNASLLQKMC	3.0	1.0	unscreened	-	4180_8:53452422-53452423 AT>-_FSPECSKHFHRLLQYQGVLNASLLQKMC
8:53452422-53452423 AT>-	0.0	4180	BREAST	-	-	-	-	FAM150A	uc011ldt.2,p.Y98fs|ENST00000523939,p.Y98fs	protein_coding	uc011ldt.2	frameshift deletion	exon3	c.293_294del	p.Y98fs	FSPECSKHFHRLYYNTRECSTPAYI	FSPECSKHFHRLLQYQGVLNASLHFL	3.0	1.0	unscreened	-	4180_8:53452422-53452423 AT>-_FSPECSKHFHRLLQYQGVLNASLHFL
16:67943061-67943061 C>T	1.0	4180	BREAST	-	-	ID=COSM1222312;OCCURENCE=1(large_intestine)	-	PSKH1	ENST00000291041,p.R137W|uc002euv.3,p.R137W|NM_006742,p.R137W|uc010cet.2,p.R137W	protein_coding, processed_transcript	uc010cet.2	nonsynonymous SNV	exon2	c.C409T	p.R137W	AIKMIETKYREGREVCESELRVLRR	AIKMIETKYREGWEVCESELRVLRR	6.0	9.0	unscreened	-	4180_16:67943061-67943061 C>T_AIKMIETKYREGWEVCESELRVLRR
4:84516098-84516098 A>G	0.0	4180	BREAST	-	-	-	-	AGPAT9	NM_001256422,p.H280R|uc003hoy.4,p.H280R|ENST00000395226,p.H280R|NM_032717,p.H280R|uc003hox.4,p.H280R|ENST00000264409,p.H280R|NM_001256421,p.H280R|uc003how.4,p.H280R	retained_intron, protein_coding, processed_transcript	uc003hoy.4	nonsynonymous SNV	exon8	c.A839G	p.H280R	HVWFERSEMKDRHLVTKRLKEHIAD	HVWFERSEMKDRRLVTKRLKEHIAD	8.0	2.0	unscreened	-	4180_4:84516098-84516098 A>G_HVWFERSEMKDRRLVTKRLKEHIAD
10:13325835-13325835 C>-	0.0	4180	BREAST	-	-	ID=COSM1346839;OCCURENCE=2(large_intestine)	-	PHYH	uc001ime.3,p.G128fs|ENST00000263038,p.G228fs|NM_006214,p.G228fs|NM_001037537,p.G128fs|ENST00000453759,p.G128fs|ENST00000396920,p.G211fs|ENST00000396913,p.G128fs|uc001imf.3,p.G228fs	retained_intron, protein_coding	uc001imf.3	frameshift deletion	exon7	c.683delG	p.G228fs	SLKPHDYPKWEGGVNKMFHGIQDYE	SLKPHDYPKWEGELTKCSTGSRTTRKTRPGCTW	10.0	5.0	unscreened	-	4180_10:13325835-13325835 C>-_SLKPHDYPKWEGELTKCSTGSRTTRKTRPGCTW
7:138916549-138916549 C>-	0.0	4180	BREAST	-	-	-	-	UBN2	NM_173569,p.P107fs|uc011kqr.2,p.P107fs|ENST00000288561,p.P24fs|ENST00000473989,p.P107fs	protein_coding	uc011kqr.2	frameshift deletion	exon1	c.319delC	p.P107fs	PPPPFPPLPLQPPPPRESASRAEQP	PPPPFPPLPLQPPRRGSRLPGLSSRRGRRGRRCAWSWCLRTPPTRAAWSSVTRSCCCAENNGRSSFTQKTHLMMNIRRGKRWKCWLRSLK	5.0	10.0	unscreened	-	4180_7:138916549-138916549 C>-_PPPPFPPLPLQPPRRGSRLPGLSSRRGRRGRRCAWSWCLRTPPTRAAWSSVTRSCCCAENNGRSSFTQKTHLMMNIRRGKRWKCWLRSLK
12:50524371-50524371 C>T	0.0	4180	BREAST	0.0041	-	-	-	CERS5	NM_001281731,p.R321Q|ENST00000422340,p.R321Q|ENST00000317551,p.R379Q|NM_147190,p.R379Q|uc001rwd.4,p.R379Q|uc001rwe.4,p.R320Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rwe.4	nonsynonymous SNV	exon11	c.G959A	p.R320Q	SPCDSSSSNGANRVNGHMGGSYWAE	SPCDSSSSNGANQVNGHMGGSYWAE	8.0	2.0	unscreened	-	4180_12:50524371-50524371 C>T_SPCDSSSSNGANQVNGHMGGSYWAE
2:217525351-217525351 G>-	0.0	4180	BREAST	-	-	ID=COSM1405389;OCCURENCE=1(large_intestine)	-	IGFBP2	ENST00000233809,p.G172fs|NM_000597,p.G172fs|uc021vwn.1,p.G172fs|ENST00000456764,p.G28fs|uc010zju.2,p.G172fs	retained_intron, protein_coding	uc021vwn.1	frameshift deletion	exon2	c.514delG	p.G172fs	ENHVDSTMNMLGGGGSAGRKPLKSG	ENHVDSTMNMLGGEAVLAGSPSSRV	8.0	10.0	unscreened	-	4180_2:217525351-217525351 G>-_ENHVDSTMNMLGGEAVLAGSPSSRV
13:110960466-110960466 T>C	0.0	4180	BREAST	-	-	-	-	COL4A2	ENST00000400163,p.L32S|uc001vqx.3,p.L32S|ENST00000360467,p.L32S|NM_001846,p.L32S	protein_coding, processed_transcript	uc001vqx.3	nonsynonymous SNV	exon3	c.T95C	p.L32S	GTVTVGFLAQSVLAGVKKFDVPCGG	GTVTVGFLAQSVSAGVKKFDVPCGG	10.0	3.0	unscreened	-	4180_13:110960466-110960466 T>C_GTVTVGFLAQSVSAGVKKFDVPCGG
3:12857438-12857438 A>G	1.0	4180	BREAST	-	-	-	-	CAND2	ENST00000295989,p.S365G|uc003bxj.2,p.S365G|uc003bxk.2,p.S458G|NM_012298,p.S365G|ENST00000456430,p.S458G|NM_001162499,p.S458G	protein_coding, processed_transcript, nonsense_mediated_decay	uc003bxk.2	nonsynonymous SNV	exon9	c.A1372G	p.S458G	KDRSVRARQGCFSLLTELAGVLPGS	KDRSVRARQGCFGLLTELAGVLPGS	6.0	5.0	unscreened	-	4180_3:12857438-12857438 A>G_KDRSVRARQGCFGLLTELAGVLPGS
11:5799652-5799652 A>-	0.0	4180	BREAST	-	-	ID=COSM111577;OCCURENCE=1(ovary),3(large_intestine)	-	OR52N5	uc010qzn.2,p.F71fs|NM_001001922,p.F71fs|ENST00000317093,p.F71fs	protein_coding	uc010qzn.2	frameshift deletion	exon1	c.213delT	p.F71fs	YEESLHHPMYFFFGHALSLIDLLTC	YEESLHHPMYFFLAMLSPSLTSLPAPPLYPMHSASSGSVSKKLTSMLAWPRCSLFMGSQVWSLGCSCSWL	1.0	7.0	unscreened	-	4180_11:5799652-5799652 A>-_YEESLHHPMYFFLAMLSPSLTSLPAPPLYPMHSASSGSVSKKLTSMLAWPRCSLFMGSQVWSLGCSCSWL
21:45987766-45987766 A>G	0.0	4180	BREAST	-	-	-	-	TSPEAR	ENST00000323084,p.M69T|NM_144991,p.M69T|uc002zfe.1,p.M69T	protein_coding	uc002zfe.1	nonsynonymous SNV	exon2	c.T206C	p.M69T	RGLQLSVAAPRTMSFPASRIFSQCD	RGLQLSVAAPRTTSFPASRIFSQCD	1.0	10.0	unscreened	-	4180_21:45987766-45987766 A>G_RGLQLSVAAPRTTSFPASRIFSQCD
17:25930880-25930880 G>A	0.0	4180	BREAST	-	-	-	-	KSR1	ENST00000268763,p.A396T|NM_014238,p.A396T|ENST00000319524,p.A533T|uc031qzj.1,p.A396T|ENST00000398988,p.A396T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qzj.1	nonsynonymous SNV	exon11	c.G1186A	p.A396T	KENAFNISAFAHAAPLPEAADGTRL	KENAFNISAFAHTAPLPEAADGTRL	8.0	7.0	unscreened	-	4180_17:25930880-25930880 G>A_KENAFNISAFAHTAPLPEAADGTRL
11:22646879-22646879 C>A	0.0	4180	BREAST	-	-	-	1	FANCF	NM_022725,p.D160Y|ENST00000327470,p.D160Y|uc001mql.1,p.D160Y	protein_coding	uc001mql.1	nonsynonymous SNV	exon1	c.G478T	p.D160Y	FNGYRENPNLQEDSLMKTQAELLLE	FNGYRENPNLQEYSLMKTQAELLLE	6.0	5.0	unscreened	-	4180_11:22646879-22646879 C>A_FNGYRENPNLQEYSLMKTQAELLLE
21:34635447-34635447 G>T	0.0	4180	BREAST	-	-	-	-	IFNAR2	uc002yrd.3,p.R397M|ENST00000342136,p.R397M|NM_001289125,p.R397M|uc002yre.3,p.R397M|NM_207585,p.R397M|ENST00000382241,p.R397M	protein_coding, processed_transcript, nonsense_mediated_decay	uc002yre.3	nonsynonymous SNV	exon9	c.G1190T	p.R397M	PQQLELLSGPCERRKSPLQDPFPEE	PQQLELLSGPCEMRKSPLQDPFPEE	7.0	1.0	unscreened	-	4180_21:34635447-34635447 G>T_PQQLELLSGPCEMRKSPLQDPFPEE
14:72204975-72204975 C>T	1.0	4180	BREAST	-	-	-	-	SIPA1L1	NM_015556,p.P1735L|ENST00000381232,p.P1714L|NM_001284245,p.P1714L|uc001xms.3,p.P1735L|uc001xmt.3,p.P1714L|ENST00000555818,p.P1735L	retained_intron, protein_coding, processed_transcript	uc001xmt.3	nonsynonymous SNV	exon20	c.C5141T	p.P1714L	QMKPYSSSKDSSPTLASKVDQLEGM	QMKPYSSSKDSSLTLASKVDQLEGM	8.0	5.0	unscreened	-	4180_14:72204975-72204975 C>T_QMKPYSSSKDSSLTLASKVDQLEGM
10:98802711-98802711 A>-	0.0	4180	BREAST	-	-	-	-	SLIT1	ENST00000266058,p.L704fs|NM_003061,p.L704fs|uc001kmw.2,p.L704fs|ENST00000371070,p.L704fs	protein_coding, processed_transcript	uc001kmw.2	frameshift deletion	exon20	c.2111delT	p.L704fs	VTGNPRCQNPDFLRQIPLQDVAFPD	VTGNPRCQNPDFCGRFPCRTWPSLTSGVRKARRRGAACPAHSAHRSAPAWTPWSDAATSTCGPCPRAFPRMSQNSIWTGTSSRWFRDSCLPSSTCSSWT	2.0	3.0	unscreened	-	4180_10:98802711-98802711 A>-_VTGNPRCQNPDFCGRFPCRTWPSLTSGVRKARRRGAACPAHSAHRSAPAWTPWSDAATSTCGPCPRAFPRMSQNSIWTGTSSRWFRDSCLPSSTCSSWT
10:103826900-103826900 C>-	0.0	4180	BREAST	-	-	ID=COSM1345417;OCCURENCE=2(large_intestine)	-	HPS6	ENST00000299238,p.P557fs|NM_024747,p.P557fs|uc001kuj.3,p.P557fs	protein_coding	uc001kuj.3	frameshift deletion	exon1	c.1669delC	p.P557fs	KKVLGGITAGKEPPNGILPPFELLC	KKVLGGITAGKEPPMEYCPPLNSCASVCASWSLDGCHPLWSWHSSRAGRAGGQGAQDCPCIAELWQC	7.0	3.0	unscreened	-	4180_10:103826900-103826900 C>-_KKVLGGITAGKEPPMEYCPPLNSCASVCASWSLDGCHPLWSWHSSRAGRAGGQGAQDCPCIAELWQC
3:4726847-4726847 C>T	0.0	4180	BREAST	-	-	ID=COSM1211111,COSM1211110,COSM1211109;OCCURENCE=1(large_intestine)	-	ITPR1	ENST00000423119,p.A1211V|ENST00000357086,p.A1211V|uc003bqc.3,p.A1205V|NM_001099952,p.A1211V|ENST00000443694,p.A1205V|ENST00000354582,p.A1220V|ENST00000456211,p.A1196V|NM_002222,p.A1196V|uc021wsi.1,p.A1211V|uc021wsj.1,p.A1196V|NM_001168272,p.A1205V|ENST00000302640,p.A1205V	retained_intron, protein_coding, processed_transcript	uc021wsj.1	nonsynonymous SNV	exon29	c.C3587T	p.A1196V	RKQQQRLLRNMGAHAVVLELLQIPY	RKQQQRLLRNMGVHAVVLELLQIPY	6.0	9.0	unscreened	-	4180_3:4726847-4726847 C>T_RKQQQRLLRNMGVHAVVLELLQIPY
16:31926776-31926776 C>A	0.0	4180	BREAST	-	-	-	-	ZNF267	ENST00000300870,p.H402Q|uc031qvw.1,p.H146Q|uc002ecs.5,p.H402Q|NM_003414,p.H402Q|NM_001265588,p.H370Q|uc031qvx.1,p.H370Q	protein_coding, nonsense_mediated_decay	uc031qvx.1	nonsynonymous SNV	exon5	c.C1110A	p.H370Q	TRSSNLIVHQRIHTGEKPYKCKECG	TRSSNLIVHQRIQTGEKPYKCKECG	8.0	5.0	unscreened	-	4180_16:31926776-31926776 C>A_TRSSNLIVHQRIQTGEKPYKCKECG
X:154132660-154132660 T>G	0.0	4180	BREAST	-	-	-	-	F8	uc004fmt.3,p.Y1909S|NM_000132,p.Y1909S|ENST00000360256,p.Y1909S|uc010nvi.1,p.Y68S	protein_coding, processed_transcript	uc010nvi.1	nonsynonymous SNV	exon3	c.A203C	p.Y68S	LFFTIFDETKSWYFTENMERNCRAP	LFFTIFDETKSWSFTENMERNCRAP	6.0	10.0	unscreened	-	4180_X:154132660-154132660 T>G_LFFTIFDETKSWSFTENMERNCRAP
9:100849793-100849793 G>A	0.0	4180	BREAST	-	-	-	-	TRIM14	uc004ayd.2,p.R430W|ENST00000375098,p.R430W|ENST00000342043,p.R430W|uc011luz.1,p.R208W|uc004ayh.1,p.R430W|NM_014788,p.R430W|NM_033219,p.R430W|ENST00000341469,p.R430W|ENST00000538344,p.R211W|uc011lva.1,p.R211W|uc004ayg.1,p.R430W	protein_coding, processed_transcript, nonsense_mediated_decay	uc011lva.1	nonsynonymous SNV	exon3	c.C631T	p.R211W	RATFQEPLYPALRLWEGAISIPRLP	RATFQEPLYPALWLWEGAISIPRLP	8.0	5.0	unscreened	-	4180_9:100849793-100849793 G>A_RATFQEPLYPALWLWEGAISIPRLP
2:112786224-112786224 G>A	0.0	4180	BREAST	-	-	-	-	MERTK	ENST00000409780,p.R752Q|ENST00000295408,p.R928Q|NM_006343,p.R928Q|uc002thl.1,p.R752Q|uc002thk.1,p.R928Q|ENST00000421804,p.R928Q	retained_intron, protein_coding, nonsense_mediated_decay	uc002thl.1	nonsynonymous SNV	exon19	c.G2255A	p.R752Q	TAEVHDSKPHEGRYILNGGSEEWED	TAEVHDSKPHEGQYILNGGSEEWED	7.0	7.0	unscreened	-	4180_2:112786224-112786224 G>A_TAEVHDSKPHEGQYILNGGSEEWED
3:53909975-53909975 C>T	0.0	4180	BREAST	0.0005	-	-	-	ACTR8	uc003dhd.3,p.R304Q|NM_022899,p.R304Q|uc003dhc.3,p.R193Q|ENST00000335754,p.R304Q|ENST00000482349,p.R193Q	retained_intron, protein_coding, processed_transcript	uc003dhd.3	nonsynonymous SNV	exon7	c.G911A	p.R304Q	CCVEDGVSHRNTRLCLAYGGSDVSR	CCVEDGVSHRNTQLCLAYGGSDVSR	8.0	2.0	unscreened	-	4180_3:53909975-53909975 C>T_CCVEDGVSHRNTQLCLAYGGSDVSR
7:91718843-91718843 G>A	0.0	4180	BREAST	-	-	-	2	AKAP9	uc003ulk.3,p.G395S	retained_intron, protein_coding, processed_transcript	uc003ulk.3	nonsynonymous SNV	exon6	c.G1183A	p.G395S	LKREQESEKPSQGMLYDKLIWLHKQ	LKREQESEKPSQSMLYDKLIWLHKQ	8.0	6.0	unscreened	-	4180_7:91718843-91718843 G>A_LKREQESEKPSQSMLYDKLIWLHKQ
10:15326047-15326047 G>A	0.0	4180	BREAST	-	-	ID=COSM181585,COSM1297136;OCCURENCE=1(large_intestine),1(urinary_tract)	-	FAM171A1	uc001iob.3,p.A52V|NM_001010924,p.A52V|ENST00000378116,p.A52V|ENST00000455654,p.A52V	protein_coding, processed_transcript	uc001iob.3	nonsynonymous SNV	exon2	c.C155T	p.A52V	ISDASTHQPVADALIEIFTNQASIA	ISDASTHQPVADVLIEIFTNQASIA	6.0	1.0	unscreened	-	4180_10:15326047-15326047 G>A_ISDASTHQPVADVLIEIFTNQASIA
3:136573486-136573486 A>-	0.0	4180	BREAST	-	-	ID=COSM1419380;OCCURENCE=1(liver),9(large_intestine)	-	SLC35G2	NM_025246,p.K62fs|uc003erf.4,p.K62fs|uc010hub.3,p.K62fs|NM_001097600,p.K62fs|uc003erg.4,p.K62fs|uc021xem.1,p.K62fs|ENST00000446465,p.K62fs|NM_001097599,p.K62fs|ENST00000393079,p.K62fs	protein_coding, processed_transcript	uc021xem.1	frameshift deletion	exon1	c.184delA	p.K62fs	EENPKKGLLSEMKKKGRAFFGTMDT	EENPKKGLLSEMKKKGELSLEPWIPYLHQQKTQ	5.0	2.0	unscreened	-	4180_3:136573486-136573486 A>-_EENPKKGLLSEMKKKGELSLEPWIPYLHQQKTQ
2:160239075-160239075 C>A	0.0	4180	BREAST	-	-	-	-	BAZ2B	ENST00000392783,p.D1334Y|ENST00000392782,p.D1298Y|NM_001289975,p.D1298Y|uc002uao.3,p.D1334Y|NM_013450,p.D1334Y|ENST00000343439,p.D1234Y|ENST00000355831,p.D1300Y|uc002uap.3,p.D1298Y	retained_intron, protein_coding, processed_transcript	uc002uap.3	nonsynonymous SNV	exon24	c.G3892T	p.D1298Y	EDKKGKKTDICEDEDEGDQAASVEE	EDKKGKKTDICEYEDEGDQAASVEE	7.0	3.0	unscreened	-	4180_2:160239075-160239075 C>A_EDKKGKKTDICEYEDEGDQAASVEE
20:58318252-58318252 C>T	0.0	4180	BREAST	-	-	-	-	PHACTR3	ENST00000355648,p.T29I|uc002yau.3,p.T70I|NM_001281507,p.T29I|ENST00000359926,p.T67I|uc010zzw.2,p.T29I|NM_183244,p.T29I|NM_001199505,p.T67I|NM_001199506,p.T29I|ENST00000361300,p.T29I|ENST00000395639,p.T29I|uc002yax.3,p.T29I|NM_080672,p.T70I|uc002yav.3,p.T29I|uc002yaw.3,p.T29I|uc002yat.3,p.T67I|NM_183246,p.T29I|ENST00000371015,p.T70I|ENST00000541461,p.T29I|ENST00000395636,p.T29I	retained_intron, protein_coding	uc010zzw.2	nonsynonymous SNV	exon2	c.C86T	p.T29I	RTPPVRRNSKLATLGRIFKPWKWRK	RTPPVRRNSKLAILGRIFKPWKWRK	2.0	10.0	unscreened	-	4180_20:58318252-58318252 C>T_RTPPVRRNSKLAILGRIFKPWKWRK
2:208488973-208488973 C>T	0.0	4180	BREAST	-	-	-	-	METTL21A	ENST00000411432,p.A43T|ENST00000272839,p.A43T|uc010fuk.1,p.A43T|uc002vce.3,p.A43T|ENST00000448007,p.A43T|ENST00000442521,p.A43T|NM_145280,p.A43T|ENST00000426075,p.A43T|ENST00000432416,p.A43T|NM_001127395,p.A43T|ENST00000425132,p.A43T|ENST00000406927,p.A43T|uc002vcg.3,p.A43T|ENST00000458426,p.A43T|uc002vcf.2,p.A43T	protein_coding, processed_transcript	uc010fuk.1	nonsynonymous SNV	exon2	c.G127A	p.A43T	IQIRQDWRHLGVAAVVWDAAIVLST	IQIRQDWRHLGVTAVVWDAAIVLST	9.0	1.0	unscreened	-	4180_2:208488973-208488973 C>T_IQIRQDWRHLGVTAVVWDAAIVLST
14:72204975-72204975 C>T	1.0	4180	BREAST	-	-	-	-	SIPA1L1	uc010ttm.2,p.P1188L|uc001xmv.3,p.P1734L|NM_001284247,p.P1734L|ENST00000358550,p.P1713L|ENST00000537413,p.P1188L|uc001xmu.3,p.P1713L|NM_001284246,p.P1713L	retained_intron, protein_coding, processed_transcript	uc010ttm.2	nonsynonymous SNV	exon19	c.C3563T	p.P1188L	AQMKPYSSKDSSPTLASKVDQLEGM	AQMKPYSSKDSSLTLASKVDQLEGM	8.0	5.0	unscreened	-	4180_14:72204975-72204975 C>T_AQMKPYSSKDSSLTLASKVDQLEGM
X:48924909-48924909 C>T	0.0	4180	BREAST	-	-	-	-	CCDC120	NM_001271836,p.A385V|uc011mmq.3,p.A373V|ENST00000603986,p.A420V|ENST00000536628,p.A373V|ENST00000376396,p.A385V|uc010nik.4,p.A385V|uc004dmf.4,p.A385V|NM_033626,p.A385V|NM_001163322,p.A373V|NM_001163321,p.A420V|ENST00000496529,p.A385V|uc011mms.3,p.A373V|uc010nil.4,p.A385V|uc022bvz.1,p.A74V|ENST00000597275,p.A385V|NM_001163323,p.A373V|NM_001271835,p.A385V|ENST00000422185,p.A385V	protein_coding, processed_transcript	uc022bvz.1	nonsynonymous SNV	exon1	c.C221T	p.A74V	GAGSPPAPLAPSASGPPVCKSSEVL	GAGSPPAPLAPSVSGPPVCKSSEVL	6.0	6.0	unscreened	-	4180_X:48924909-48924909 C>T_GAGSPPAPLAPSVSGPPVCKSSEVL
17:61511918-61511918 C>T	1.0	4180	BREAST	-	-	-	-	CYB561	uc002jap.3,p.A201T|NM_001915,p.A201T|ENST00000392975,p.A201T|uc010wpg.2,p.A172T|ENST00000584291,p.A201T|uc002jaq.3,p.A247T|NM_001017917,p.A201T|ENST00000542042,p.A268T|ENST00000582997,p.A208T|ENST00000360793,p.A201T|ENST00000581573,p.A201T|uc002jat.3,p.A201T|ENST00000582034,p.A172T|uc002jas.3,p.A201T|ENST00000392976,p.A201T|uc002jar.3,p.A201T|NM_001017916,p.A201T	retained_intron, protein_coding, processed_transcript	uc010wpg.2	nonsynonymous SNV	exon6	c.G514A	p.A172T	GKYSAFEPEGVLANVLGLLLACFGG	GKYSAFEPEGVLTNVLGLLLACFGG	9.0	8.0	unscreened	-	4180_17:61511918-61511918 C>T_GKYSAFEPEGVLTNVLGLLLACFGG
6:160517512-160517512 G>A	1.0	4180	BREAST	-	-	-	-	IGF2R	uc003qta.3,p.G2233R|ENST00000356956,p.G2233R|NM_000876,p.G2233R	protein_coding, processed_transcript	uc003qta.3	nonsynonymous SNV	exon45	c.G6697A	p.G2233R	DLDVVFASSSKCGKDKTKSVSSTIF	DLDVVFASSSKCRKDKTKSVSSTIF	8.0	9.0	-	-	4180_6:160517512-160517512 G>A_DLDVVFASSSKCRKDKTKSVSSTIF
2:220494118-220494118 A>-	0.0	4180	BREAST	-	-	ID=COSM1405726;OCCURENCE=5(large_intestine)	-	SLC4A3	ENST00000425141,p.H157fs|ENST00000358055,p.H157fs|ENST00000317151,p.H157fs|uc002vmp.4,p.H157fs|NM_005070,p.H157fs|ENST00000373760,p.H157fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc002vmp.4	frameshift deletion	exon4	c.470delA	p.H157fs	EGESEAEPVEPPHSGTPQKAKFSIG	EGESEAEPVEPPPQGPHRRQSSPLEVTRMTVQASLGGLLSPSPCPRWAHTLTRAPSTPAAPPAPGPGPPDSLGRKAGPGAHRPVMTCGSDCAQAVPWATQVVQSSRCPQMRRRPRCWVLQTWTT	6.0	9.0	unscreened	-	4180_2:220494118-220494118 A>-_EGESEAEPVEPPPQGPHRRQSSPLEVTRMTVQASLGGLLSPSPCPRWAHTLTRAPSTPAAPPAPGPGPPDSLGRKAGPGAHRPVMTCGSDCAQAVPWATQVVQSSRCPQMRRRPRCWVLQTWTT
6:55989074-55989074 T>-	0.0	4180	BREAST	-	-	-	-	COL21A1	NM_030820,p.K556fs|uc003pcs.3,p.K556fs|ENST00000488912,p.K20fs|ENST00000244728,p.K556fs|ENST00000535941,p.K556fs|ENST00000370819,p.K553fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pcs.3	frameshift deletion	exon15	c.1667delA	p.K556fs	PGFYGKKGAKGEKGNAGFPGLPGPA	PGFYGKKGAKGERGMLASLASLDLLENQEDMERMD	2.0	2.0	unscreened	-	4180_6:55989074-55989074 T>-_PGFYGKKGAKGERGMLASLASLDLLENQEDMERMD
7:5270498-5270498 G>A	1.0	4180	BREAST	-	-	-	-	WIPI2	ENST00000382384,p.A400T|uc003snw.3,p.A418T|ENST00000404704,p.A418T|uc003soa.3,p.A359T|uc003sny.3,p.A400T|NM_001033519,p.A400T|ENST00000484262,p.A359T|NM_001033518,p.A418T|NM_001033520,p.A359T	retained_intron, protein_coding, processed_transcript	uc003soa.3	nonsynonymous SNV	exon10	c.G1075A	p.A359T	KAYTDDLGAVGGACLEDEASALRLD	KAYTDDLGAVGGTCLEDEASALRLD	9.0	10.0	-	-	4180_7:5270498-5270498 G>A_KAYTDDLGAVGGTCLEDEASALRLD
7:5270498-5270498 G>A	1.0	4180	BREAST	-	-	-	-	WIPI2	uc003snx.3,p.A411T|NM_015610,p.A429T|ENST00000288828,p.A429T|NM_001278299,p.A285T|NM_016003,p.A411T|uc010ksv.3,p.A285T|ENST00000401525,p.A411T|uc003snv.3,p.A429T	retained_intron, protein_coding, processed_transcript	uc010ksv.3	nonsynonymous SNV	exon13	c.G853A	p.A285T	LAYTDDLGAVGGACLEDEASALRLD	LAYTDDLGAVGGTCLEDEASALRLD	9.0	10.0	-	-	4180_7:5270498-5270498 G>A_LAYTDDLGAVGGTCLEDEASALRLD
12:109046181-109046181 T>C	1.0	4180	BREAST	-	-	-	-	CORO1C	uc010sxf.3,p.I253V|ENST00000420959,p.I343V|ENST00000261401,p.I290V|uc031qjk.1,p.I290V|ENST00000421578,p.I185V|NM_001105237,p.I343V|NM_014325,p.I290V|uc009zva.4,p.I343V|ENST00000549772,p.I296V|ENST00000541050,p.I290V|uc001tnj.4,p.I290V|NM_001276471,p.I290V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qjk.1	nonsynonymous SNV	exon8	c.A868G	p.I290V	SIIYLCGKGDSSIRYFEITDESPYV	SIIYLCGKGDSSVRYFEITDESPYV	10.0	5.0	-	-	4180_12:109046181-109046181 T>C_SIIYLCGKGDSSVRYFEITDESPYV
1:145302676-145302676 G>A	0.0	4180	BREAST	-	-	-	-	NBPF10	ENST00000342960,p.A372T|uc021ouk.1,p.A372T|ENST00000369338,p.A101T|ENST00000490598,p.A372T|uc031poc.1,p.A372T|ENST00000369339,p.A101T|uc001emq.1,p.A101T|uc021oul.2,p.A372T|NM_001039703,p.A372T	protein_coding, processed_transcript	uc031poc.1	nonsynonymous SNV	exon8	c.G1114A	p.A372T	AEELRQYKVLVHAQERELTQLKEKL	AEELRQYKVLVHTQERELTQLKEKL	8.0	6.0	unscreened	-	4180_1:145302676-145302676 G>A_AEELRQYKVLVHTQERELTQLKEKL
14:55454100-55454100 A>G	0.0	4180	BREAST	-	-	-	-	WDHD1	ENST00000360586,p.L511P|uc001xbn.2,p.L388P|uc001xbm.2,p.L511P|NM_007086,p.L511P|ENST00000421192,p.L388P|NM_001008396,p.L388P|ENST00000420358,p.L388P	retained_intron, protein_coding, nonsense_mediated_decay	uc001xbn.2	nonsynonymous SNV	exon13	c.T1163C	p.L388P	LACESTDELASKLHCLHFSSWDSSK	LACESTDELASKPHCLHFSSWDSSK	7.0	7.0	unscreened	-	4180_14:55454100-55454100 A>G_LACESTDELASKPHCLHFSSWDSSK
6:137338199-137338199 T>C	0.0	4180	BREAST	-	-	ID=COSM1440695;OCCURENCE=1(large_intestine)	-	IL20RA	uc003qhj.3,p.T44A|ENST00000367746,p.T44A|NM_014432,p.T44A|ENST00000316649,p.T44A	protein_coding, processed_transcript	uc003qhj.3	nonsynonymous SNV	exon2	c.A130G	p.T44A	CVSGGLPKPANITFLSINMKNVLQW	CVSGGLPKPANIAFLSINMKNVLQW	5.0	1.0	unscreened	-	4180_6:137338199-137338199 T>C_CVSGGLPKPANIAFLSINMKNVLQW
22:31658127-31658127 C>T	1.0	4180	BREAST	-	-	-	-	LIMK2	uc011aln.2,p.R104W|NM_001031801,p.R166W|ENST00000333611,p.R166W|NM_005569,p.R187W|NM_016733,p.R166W|uc003akk.3,p.R166W|ENST00000340552,p.R166W|uc003akj.3,p.R166W|uc003akh.3,p.R187W|ENST00000406516,p.R109W|ENST00000331728,p.R187W	retained_intron, protein_coding, processed_transcript	uc011aln.2	nonsynonymous SNV	exon5	c.C310T	p.R104W	NYATTVQVKEVNRMHISPNNRNAIH	NYATTVQVKEVNWMHISPNNRNAIH	8.0	8.0	-	-	4180_22:31658127-31658127 C>T_NYATTVQVKEVNWMHISPNNRNAIH
19:14910638-14910638 A>-	0.0	4180	BREAST	-	-	ID=COSM1390990;OCCURENCE=1(liver),4(large_intestine),1(skin)	-	OR7C1	NM_198944,p.F104fs|uc010xnz.2,p.F104fs|ENST00000248073,p.F104fs	protein_coding	uc010xnz.2	frameshift deletion	exon1	c.311delT	p.F104fs	ITYAGCLSQIFFFTSFGCLDNLLLT	ITYAGCLSQIFFSLHLDAWTIYS	1.0	6.0	unscreened	-	4180_19:14910638-14910638 A>-_ITYAGCLSQIFFSLHLDAWTIYS
1:237969494-237969494 T>-	0.0	4180	BREAST	-	-	ID=COSM404926;OCCURENCE=1(large_intestine),1(lung)	-	RYR2	NM_001035,p.F4737fs|uc001hyl.1,p.F4737fs|ENST00000360064,p.F4743fs|uc010pyb.1,p.F170fs|ENST00000542537,p.F4721fs|ENST00000366574,p.F4737fs	protein_coding, processed_transcript	uc010pyb.1	frameshift deletion	exon7	c.508delT	p.F170fs	YMTMSVLGHYNNFFFAAHLLDIAMG	YMTMSVLGHYNNFFLPLTFSTLLWDSRH	2.0	1.0	unscreened	-	4180_1:237969494-237969494 T>-_YMTMSVLGHYNNFFLPLTFSTLLWDSRH
2:220494118-220494118 A>-	0.0	4180	BREAST	-	-	ID=COSM1405726;OCCURENCE=5(large_intestine)	-	SLC4A3	uc002vmo.4,p.H157fs|ENST00000373762,p.H157fs|uc002vmn.2,p.H157fs|ENST00000273063,p.H157fs|NM_201574,p.H157fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc002vmo.4	frameshift deletion	exon4	c.470delA	p.H157fs	EGESEAEPVEPPHSGTPQKAKFSIG	EGESEAEPVEPPPQGPHRRQSSPLEVTRMTVQASLGGLLSPSPCPRWAHTLTRAPSTPAGRALS	6.0	9.0	unscreened	-	4180_2:220494118-220494118 A>-_EGESEAEPVEPPPQGPHRRQSSPLEVTRMTVQASLGGLLSPSPCPRWAHTLTRAPSTPAGRALS
17:48262919-48262919 C>T	0.0	4180	BREAST	-	-	-	1	COL1A1	ENST00000225964,p.V1447I|uc002iqm.3,p.V1447I|NM_000088,p.V1447I	retained_intron, protein_coding	uc002iqm.3	nonsynonymous SNV	exon51	c.G4339A	p.V1447I	SRLPIIDVAPLDVGAPDQEFGFDVG	SRLPIIDVAPLDIGAPDQEFGFDVG	10.0	2.0	unscreened	-	4180_17:48262919-48262919 C>T_SRLPIIDVAPLDIGAPDQEFGFDVG
3:49877795-49877795 G>T	0.0	4180	BREAST	-	-	-	-	TRAIP	ENST00000473195,p.L98I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000473195	nonsynonymous SNV	exon5	c.C292A	p.L98I	VRAQLSQKVADSLL	VRAQLSQKVADSIL	8.0	2.0	unscreened	-	4180_3:49877795-49877795 G>T_VRAQLSQKVADSIL
7:102105201-102105201 C>A	0.0	4180	BREAST	-	-	-	-	ALKBH4	uc003uzl.3,p.R28L|ENST00000292566,p.R28L|NM_017621,p.R28L|ENST00000490528,p.R28L	retained_intron, protein_coding, nonsense_mediated_decay	uc003uzl.3	nonsynonymous SNV	exon1	c.G83T	p.R28L	GCKGIRTCLICERQRGSDPPWELPP	GCKGIRTCLICELQRGSDPPWELPP	7.0	2.0	unscreened	-	4180_7:102105201-102105201 C>A_GCKGIRTCLICELQRGSDPPWELPP
17:39919410-39919410 G>A	0.0	4180	BREAST	-	-	-	-	JUP	ENST00000393931,p.A441V|uc002hxr.2,p.A441V|NM_021991,p.A441V|ENST00000310706,p.A441V|ENST00000393930,p.A441V|uc002hxs.2,p.A441V|uc002hxq.2,p.A441V|NM_002230,p.A441V	retained_intron, protein_coding	uc002hxs.2	nonsynonymous SNV	exon8	c.C1322T	p.A441V	VTQNSGVEALIHAILRAGDKDDITE	VTQNSGVEALIHVILRAGDKDDITE	10.0	2.0	unscreened	-	4180_17:39919410-39919410 G>A_VTQNSGVEALIHVILRAGDKDDITE
17:73814802-73814802 C>-	0.0	4180	BREAST	-	-	ID=COSM1386055,COSM1386056;OCCURENCE=1(large_intestine)	-	UNK	ENST00000589666,p.T484fs|uc021udd.2,p.T484fs|NM_001080419,p.T484fs|ENST00000293218,p.T560fs	retained_intron, protein_coding, nonsense_mediated_decay	uc021udd.2	frameshift deletion	exon11	c.1451delC	p.T484fs	SISSSITSSLAATPPSPVGTSSVPG	SISSSITSSLAATPLAQWAPAASPA	9.0	4.0	unscreened	-	4180_17:73814802-73814802 C>-_SISSSITSSLAATPLAQWAPAASPA
20:34053877-34053877 G>A	0.0	4180	BREAST	-	-	-	-	CEP250	NM_007186,p.A114T|ENST00000397527,p.A114T|ENST00000446710,p.A114T|uc021wcn.1,p.A114T|ENST00000461386,p.A114T|ENST00000425934,p.A114T|uc021wco.1,p.A114T|ENST00000342580,p.A114T|ENST00000397524,p.A114T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wco.1	nonsynonymous SNV	exon7	c.G340A	p.A114T	RLEEEQQRCESLAEVNTQLRLHMEK	RLEEEQQRCESLTEVNTQLRLHMEK	8.0	1.0	unscreened	-	4180_20:34053877-34053877 G>A_RLEEEQQRCESLTEVNTQLRLHMEK
6:7571685-7571685 A>G	1.0	4180	BREAST	-	-	-	-	DSP	uc021yle.1,p.I591V|uc003mxp.1,p.I591V|ENST00000379802,p.I591V|NM_004415,p.I591V|uc003mxq.1,p.I591V|NM_001008844,p.I591V|ENST00000418664,p.I591V	retained_intron, protein_coding	uc021yle.1	nonsynonymous SNV	exon14	c.A1771G	p.I591V	TIADLELHYQEFIRNSQGSEMFGDD	TIADLELHYQEFVRNSQGSEMFGDD	10.0	8.0	-	-	4180_6:7571685-7571685 A>G_TIADLELHYQEFVRNSQGSEMFGDD
6:29141422-29141422 A>-	0.0	4180	BREAST	-	-	ID=COSM1442855;OCCURENCE=1(large_intestine)	-	OR2J2	uc011dlm.2,p.K4fs|ENST00000377167,p.K4fs|NM_030905,p.K4fs	protein_coding	uc011dlm.2	frameshift deletion	exon1	c.10delA	p.K4fs	MMIKKNASSEDFFILL	MMIKKMQVRKTSLFYLDFLIGLSWK	1.0	5.0	unscreened	-	4180_6:29141422-29141422 A>-_MMIKKMQVRKTSLFYLDFLIGLSWK
16:23646290-23646290 T>C	1.0	4180	BREAST	-	-	-	1	PALB2	ENST00000261584,p.H526R|NM_024675,p.H526R|uc002dlx.1,p.H526R	protein_coding, nonsense_mediated_decay	uc002dlx.1	nonsynonymous SNV	exon4	c.A1577G	p.H526R	GKRKSACTPASDHCEPLLPTSSLSI	GKRKSACTPASDRCEPLLPTSSLSI	7.0	10.0	unscreened	-	4180_16:23646290-23646290 T>C_GKRKSACTPASDRCEPLLPTSSLSI
4:88766708-88766708 A>-	0.0	4180	BREAST	-	-	-	-	MEPE	uc003hqy.3,p.K230fs|NM_001184697,p.K117fs|uc021xpv.1,p.K117fs|NM_001184694,p.K230fs|NM_020203,p.K230fs|ENST00000560249,p.K117fs|ENST00000497649,p.K206fs|uc021xpy.1,p.K117fs|NM_001291183,p.K261fs|ENST00000540395,p.K117fs|ENST00000424957,p.K230fs|ENST00000395102,p.K261fs|ENST00000361056,p.K230fs|uc021xpu.1,p.K230fs|uc021xpx.1,p.K261fs|NM_001184695,p.K117fs|uc021xpw.1,p.K117fs|uc010ikn.3,p.K117fs|NM_001184696,p.K117fs	protein_coding, processed_transcript	uc021xpy.1	frameshift deletion	exon1	c.349delA	p.K117fs	HNIDYLKHLSKVKKIPSDFEGSGYT	HNIDYLKHLSKVKKSPVILKAAVIQIFKREGTMIYLLSVGTANLLRTFLVKEKLLVLT	1.0	5.0	unscreened	-	4180_4:88766708-88766708 A>-_HNIDYLKHLSKVKKSPVILKAAVIQIFKREGTMIYLLSVGTANLLRTFLVKEKLLVLT
19:10335125-10335125 C>A	0.0	4180	BREAST	-	-	-	-	S1PR2	uc002mnl.2,p.G153W|uc021uos.1,p.G153W|NM_004230,p.G153W|ENST00000590320,p.G153W	protein_coding	uc021uos.1	nonsynonymous SNV	exon1	c.G457T	p.G153W	GSDKSCRMLLLIGASWLISLVLGGL	GSDKSCRMLLLIWASWLISLVLGGL	6.0	1.0	unscreened	-	4180_19:10335125-10335125 C>A_GSDKSCRMLLLIWASWLISLVLGGL
19:7928559-7928559 G>A	0.0	4180	BREAST	-	-	-	-	EVI5L	NM_145245,p.A786T|uc010xjz.2,p.A797T|ENST00000538904,p.A797T|uc002min.3,p.A786T|ENST00000270530,p.A786T|NM_001159944,p.A797T	retained_intron, protein_coding, processed_transcript	uc010xjz.2	nonsynonymous SNV	exon19	c.G2389A	p.A797T	EGSSDSDADELAAPYSQGLDN	EGSSDSDADELATPYSQGLDN	6.0	2.0	unscreened	-	4180_19:7928559-7928559 G>A_EGSSDSDADELATPYSQGLDN
19:1081666-1081666 G>A	0.0	4180	BREAST	-	-	-	-	HMHA1	ENST00000313093,p.A770T|NM_012292,p.A770T|ENST00000590577,p.A405T|uc002lrb.1,p.A653T|ENST00000536472,p.A638T|uc002lqz.2,p.A770T|NM_001282335,p.A653T|NM_001258328,p.A786T|ENST00000543365,p.A653T|ENST00000586866,p.A774T|ENST00000590214,p.A797T|uc002lra.1,p.A610T|uc010xgd.2,p.A786T|NM_001282334,p.A405T|uc010xge.2,p.A638T|ENST00000539243,p.A786T|uc002lrc.2,p.A405T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xge.2	nonsynonymous SNV	exon16	c.G1912A	p.A638T	LFGQDFSHAARSAPDGVPFIVKKCV	LFGQDFSHAARSTPDGVPFIVKKCV	7.0	2.0	unscreened	-	4180_19:1081666-1081666 G>A_LFGQDFSHAARSTPDGVPFIVKKCV
12:43769187-43769187 A>T	0.0	4180	BREAST	-	-	-	-	ADAMTS20	uc010skx.2,p.I1814N|NM_025003,p.I1814N|ENST00000389420,p.I1814N	protein_coding	uc010skx.2	nonsynonymous SNV	exon36	c.T5441A	p.I1814N	FSKIRIDLTSMQIKTTDLLFSKTIF	FSKIRIDLTSMQNKTTDLLFSKTIF	1.0	10.0	unscreened	-	4180_12:43769187-43769187 A>T_FSKIRIDLTSMQNKTTDLLFSKTIF
13:110436348-110436348 C>T	1.0	4180	BREAST	-	-	-	-	IRS2	NM_003749,p.A685T|uc001vqv.3,p.A685T|ENST00000375856,p.A685T	protein_coding	uc001vqv.3	nonsynonymous SNV	exon1	c.G2053A	p.A685T	DDYMPMSPASVSAPKQILQPRAAAA	DDYMPMSPASVSTPKQILQPRAAAA	8.0	8.0	unscreened	-	4180_13:110436348-110436348 C>T_DDYMPMSPASVSTPKQILQPRAAAA
X:47518322-47518322 G>A	0.0	4180	BREAST	0.0006	-	-	-	UXT	uc004dim.3,p.A14V|ENST00000485641,p.A14V|NM_153477,p.A14V|ENST00000335890,p.A14V	retained_intron, protein_coding, processed_transcript	uc004dim.3	nonsynonymous SNV	exon1	c.C41T	p.A14V	VFPLPTPQEPIMATPPKRRAVEATG	VFPLPTPQEPIMVTPPKRRAVEATG	10.0	1.0	unscreened	-	4180_X:47518322-47518322 G>A_VFPLPTPQEPIMVTPPKRRAVEATG
3:49877797-49877798 CT>-	0.0	4180	BREAST	-	-	-	-	TRAIP	ENST00000473195,p.S97fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000473195	frameshift deletion	exon5	c.289_290del	p.S97fs	NVRAQLSQKVADSLL	NVRAQLSQKVADSTL	8.0	2.0	unscreened	-	4180_3:49877797-49877798 CT>-_NVRAQLSQKVADSTL
19:20003042-20003042 T>C	1.0	4180	BREAST	-	-	-	-	ZNF253	ENST00000589717,p.I329T|uc002noj.3,p.I329T|ENST00000355650,p.I253T|NM_021047,p.I329T|uc002nok.3,p.I253T	retained_intron, protein_coding	uc002nok.3	nonsynonymous SNV	exon2	c.T758C	p.I253T	CGKSFKHCSNLTIHKRIHTGEKPYK	CGKSFKHCSNLTTHKRIHTGEKPYK	6.0	10.0	unscreened	-	4180_19:20003042-20003042 T>C_CGKSFKHCSNLTTHKRIHTGEKPYK
7:98790679-98790679 A>G	1.0	4180	BREAST	-	-	-	-	KPNA7	uc010lft.2,p.I200T|NM_001145715,p.I200T|ENST00000327442,p.I200T	protein_coding	uc010lft.2	nonsynonymous SNV	exon5	c.T599C	p.I200T	PEFRDNVITSNAIPHLLALISPTLP	PEFRDNVITSNATPHLLALISPTLP	3.0	9.0	unscreened	-	4180_7:98790679-98790679 A>G_PEFRDNVITSNATPHLLALISPTLP
1:226558149-226558149 T>C	0.0	4180	BREAST	-	-	-	-	PARP1	ENST00000366794,p.S714G|NM_001618,p.S714G|uc001hqd.4,p.S714G	protein_coding, processed_transcript	uc001hqd.4	nonsynonymous SNV	exon15	c.A2140G	p.S714G	SKRQIQAAYSILSEVQQAVSQGSSD	SKRQIQAAYSILGEVQQAVSQGSSD	10.0	1.0	unscreened	-	4180_1:226558149-226558149 T>C_SKRQIQAAYSILGEVQQAVSQGSSD
1:40318475-40318475 T>A	1.0	4180	BREAST	-	-	-	-	TRIT1	ENST00000469476,p.H99L|ENST00000372818,p.H163L|ENST00000441669,p.H83L|uc001cem.3,p.H83L|ENST00000316891,p.H163L|NM_017646,p.H163L|uc009vvv.3,p.H22L|uc021olz.1,p.H163L|ENST00000462797,p.H163L	protein_coding, processed_transcript	uc021olz.1	nonsynonymous SNV	exon4	c.A488T	p.H163L	KVELEKEDGLVLHKRLSQVDPEMAA	KVELEKEDGLVLLKRLSQVDPEMAA	8.0	9.0	unscreened	-	4180_1:40318475-40318475 T>A_KVELEKEDGLVLLKRLSQVDPEMAA
12:64536436-64536436 A>C	0.0	4180	BREAST	-	-	-	-	SRGAP1	ENST00000357825,p.K1058T|ENST00000355086,p.K1081T|NM_020762,p.K1081T|uc010ssp.1,p.K1081T|ENST00000543397,p.K1018T|uc001srv.2,p.K1018T	retained_intron, protein_coding	uc010ssp.1	nonsynonymous SNV	exon22	c.A3242C	p.K1081T	IGPAPPPQGPTDKSCTM	IGPAPPPQGPTDTSCTM	6.0	6.0	unscreened	-	4180_12:64536436-64536436 A>C_IGPAPPPQGPTDTSCTM
16:364567-364567 G>A	0.0	4180	BREAST	-	-	-	1	AXIN1	NM_003502,p.T332I|NM_181050,p.T332I|uc002cgp.2,p.T332I|ENST00000354866,p.T332I|uc002cgq.2,p.T332I|ENST00000262320,p.T332I	retained_intron, protein_coding, processed_transcript	uc002cgq.2	nonsynonymous SNV	exon3	c.C995T	p.T332I	DSEQQSLSSDADTLSLTDSSVDGIP	DSEQQSLSSDADILSLTDSSVDGIP	9.0	5.0	unscreened	-	4180_16:364567-364567 G>A_DSEQQSLSSDADILSLTDSSVDGIP
1:156616869-156616869 C>T	0.0	4180	BREAST	-	-	-	-	BCAN	ENST00000329117,p.A123V|NM_198427,p.A123V|uc001fpp.3,p.A123V|ENST00000457777,p.A123V|uc001fpo.3,p.A123V|ENST00000361588,p.A123V|ENST00000441358,p.A123V|NM_021948,p.A123V	protein_coding, processed_transcript	uc001fpp.3	nonsynonymous SNV	exon3	c.C368T	p.A123V	PAYPASLTDVSLALSELRPNDSGIY	PAYPASLTDVSLVLSELRPNDSGIY	1.0	7.0	unscreened	-	4180_1:156616869-156616869 C>T_PAYPASLTDVSLVLSELRPNDSGIY
2:152132127-152132127 G>A	1.0	4180	BREAST	-	-	-	-	NMI	ENST00000243346,p.R169C|uc002txi.2,p.R169C|NM_004688,p.R169C	retained_intron, protein_coding	uc002txi.2	nonsynonymous SNV	exon6	c.C505T	p.R169C	MKINVTEIPDTLREDQMRDKLELSF	MKINVTEIPDTLCEDQMRDKLELSF	10.0	6.0	-	-	4180_2:152132127-152132127 G>A_MKINVTEIPDTLCEDQMRDKLELSF
17:39674981-39674981 C>-	0.0	4180	BREAST	-	-	ID=COSM1383197;OCCURENCE=1(large_intestine)	-	KRT15	ENST00000393976,p.G33fs|uc002hwy.3,p.G33fs|ENST00000254043,p.G33fs|NM_002275,p.G33fs	retained_intron, protein_coding, nonsense_mediated_decay	uc002hwy.3	frameshift deletion	exon1	c.99delG	p.G33fs	GSLLAGGGGFGGGSLSGGGGSRSIS	GSLLAGGGGFGGGVSLGEVEAEVSQLLLLGLSLQGQEEDMGVA	9.0	10.0	unscreened	-	4180_17:39674981-39674981 C>-_GSLLAGGGGFGGGVSLGEVEAEVSQLLLLGLSLQGQEEDMGVA
14:93176174-93176174 C>T	0.0	4180	BREAST	-	-	-	-	LGMN	ENST00000334869,p.R288H|NM_005606,p.R288H|uc001yau.3,p.R288H|ENST00000557434,p.R288H|ENST00000555699,p.R288H|uc001yav.3,p.R288H|ENST00000393218,p.R288H|uc001yaw.3,p.R288H|uc001yat.3,p.R288H|NM_001008530,p.R288H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001yaw.3	nonsynonymous SNV	exon11	c.G863A	p.R288H	STMKVMQFQGMKRKASSPVPLPPVT	STMKVMQFQGMKHKASSPVPLPPVT	10.0	2.0	unscreened	-	4180_14:93176174-93176174 C>T_STMKVMQFQGMKHKASSPVPLPPVT
14:35786462-35786462 A>G	1.0	4180	BREAST	-	-	-	-	PSMA6	NM_002791,p.T231A|ENST00000555764,p.T152A|uc010tpt.2,p.T152A|ENST00000553809,p.T237A|NM_001282234,p.T212A|ENST00000261479,p.T231A|NM_001282232,p.T152A|NM_001282233,p.T152A|uc001wtd.3,p.T231A|uc010tpu.2,p.T152A|ENST00000540871,p.T212A	retained_intron, protein_coding, nonsense_mediated_decay	uc010tpu.2	nonsynonymous SNV	exon7	c.A454G	p.T152A	VVTVENPKFRILTEAEIDAHLVALA	VVTVENPKFRILAEAEIDAHLVALA	10.0	9.0	-	-	4180_14:35786462-35786462 A>G_VVTVENPKFRILAEAEIDAHLVALA
X:130678282-130678282 C>-	0.0	4180	BREAST	-	-	-	-	OR13H1	ENST00000338616,p.P79fs|NM_001004486,p.P79fs|uc011muw.2,p.P79fs	protein_coding	uc011muw.2	frameshift deletion	exon1	c.235delC	p.P79fs	SFLDLCYGTASMPQALVHCFSTHPY	SFLDLCYGTASMPRLWCIVSLPIPTSLIPDVWLKRVSPWLWPQQSASYWLPWPMTVWLLSAIPCVIQWL	1.0	9.0	unscreened	-	4180_X:130678282-130678282 C>-_SFLDLCYGTASMPRLWCIVSLPIPTSLIPDVWLKRVSPWLWPQQSASYWLPWPMTVWLLSAIPCVIQWL
6:114181210-114181210 A>-	0.0	4180	BREAST	-	-	ID=COSM298003;OCCURENCE=1(liver),1(large_intestine)	-	MARCKS	uc003pvy.4,p.K152fs|ENST00000368635,p.K152fs|NM_002356,p.K152fs	protein_coding	uc003pvy.4	frameshift deletion	exon2	c.454delA	p.K152fs	DGATPSPSNETPKKKKKRFSFKKSF	DGATPSPSNETPKKKRSAFPSRSLSS	10.0	9.0	unscreened	-	4180_6:114181210-114181210 A>-_DGATPSPSNETPKKKRSAFPSRSLSS
13:103381996-103381996 A>-	0.0	4180	BREAST	-	-	ID=COSM1365256;OCCURENCE=1(large_intestine)	-	CCDC168	uc001vpm.3,p.F7017fs|NM_001146197,p.F7017fs|ENST00000322527,p.F2388fs	protein_coding	uc001vpm.3	frameshift deletion	exon4	c.21051delT	p.F7017fs	FYSERKQNRPFFFACVPADSLEVIP	FYSERKQNRPFFLPVYRQTHWRLYPKPFAGLFPLKP	1.0	2.0	unscreened	-	4180_13:103381996-103381996 A>-_FYSERKQNRPFFLPVYRQTHWRLYPKPFAGLFPLKP
22:42522698-42522698 T>C	0.0	4180	BREAST	-	-	-	-	CYP2D6	NM_000106,p.T458A|uc003bce.3,p.T458A|NM_001025161,p.T407A|uc003bcf.3,p.T407A|uc010gyu.3,p.T152A|ENST00000360608,p.T458A|ENST00000359033,p.T407A|ENST00000389970,p.T458A	retained_intron, protein_coding, nonsense_mediated_decay	uc010gyu.3	nonsynonymous SNV	exon7	c.A454G	p.T152A	EPLARMELFLFFTSLLQHFSFSVPT	EPLARMELFLFFASLLQHFSFSVPT	5.0	6.0	unscreened	-	4180_22:42522698-42522698 T>C_EPLARMELFLFFASLLQHFSFSVPT
7:64439404-64439404 C>G	0.0	4180	BREAST	-	-	-	-	ZNF117	NM_015852,p.R182T|ENST00000282869,p.R182T|uc003ttr.2,p.R182T	retained_intron, protein_coding	uc003ttr.2	nonsynonymous SNV	exon4	c.G545C	p.R182T	CGKAFNQTSHLIRHKRIHTEEKPYK	CGKAFNQTSHLITHKRIHTEEKPYK	6.0	2.0	unscreened	-	4180_7:64439404-64439404 C>G_CGKAFNQTSHLITHKRIHTEEKPYK
4:184930787-184930787 T>A	0.0	4180	BREAST	-	-	ID=COSM219198;OCCURENCE=1(breast)	-	STOX2	NM_020225,p.F266I|ENST00000438269,p.F266I|ENST00000308497,p.F266I|uc003ivz.1,p.F266I	protein_coding, processed_transcript, nonsense_mediated_decay	uc003ivz.1	nonsynonymous SNV	exon3	c.T796A	p.F266I	SKPKDSEKQSKKFGLKLFRLSFKKD	SKPKDSEKQSKKIGLKLFRLSFKKD	7.0	3.0	unscreened	-	4180_4:184930787-184930787 T>A_SKPKDSEKQSKKIGLKLFRLSFKKD
14:30396521-30396521 C>G	0.0	4180	BREAST	-	-	-	-	PRKD1	NM_002742,p.Q66H|ENST00000415220,p.Q66H|uc001wqh.3,p.Q66H|ENST00000331968,p.Q66H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wqh.3	nonsynonymous SNV	exon1	c.G198C	p.Q66H	QIGLSREPVLLLQDSSGDYSLAHVR	QIGLSREPVLLLHDSSGDYSLAHVR	5.0	10.0	unscreened	-	4180_14:30396521-30396521 C>G_QIGLSREPVLLLHDSSGDYSLAHVR
14:69805398-69805398 G>A	1.0	4180	BREAST	-	-	-	-	GALNT16	NM_020692,p.G333D|uc001xlb.2,p.G333D|ENST00000448469,p.G333D|ENST00000553471,p.G333D|uc010aqu.2,p.G333D|ENST00000337827,p.G333D|NM_001168368,p.G333D|uc001xla.2,p.G333D|ENST00000553669,p.G333D	protein_coding, processed_transcript, nonsense_mediated_decay	uc010aqu.2	nonsynonymous SNV	exon10	c.G998A	p.G333D	NFELSFRVWMCGGSLEIVPCSRVGH	NFELSFRVWMCGDSLEIVPCSRVGH	7.0	10.0	unscreened	-	4180_14:69805398-69805398 G>A_NFELSFRVWMCGDSLEIVPCSRVGH
18:74153405-74153405 C>T	0.0	4180	BREAST	-	-	-	-	ZNF516	uc021ulp.1,p.V536M|NM_014643,p.V536M|ENST00000443185,p.V536M	protein_coding, processed_transcript	uc021ulp.1	nonsynonymous SNV	exon3	c.G1606A	p.V536M	FRTYHQMVLHSRVHRRARRERDSDG	FRTYHQMVLHSRMHRRARRERDSDG	5.0	8.0	unscreened	-	4180_18:74153405-74153405 C>T_FRTYHQMVLHSRMHRRARRERDSDG
2:29446299-29446299 T>C	0.0	4180	BREAST	-	-	-	1	ALK	ENST00000389048,p.T1090A|uc010ymo.3,p.T22A|uc031rnw.1,p.T22A|uc002rmy.3,p.T1090A|NM_004304,p.T1090A	protein_coding, processed_transcript	uc031rnw.1	nonsynonymous SNV	exon2	c.A64G	p.T22A	YKLSKLRTSTIMTDYNPNYCFAGKT	YKLSKLRTSTIMADYNPNYCFAGKT	2.0	2.0	unscreened	-	4180_2:29446299-29446299 T>C_YKLSKLRTSTIMADYNPNYCFAGKT
1:227152873-227152873 ->A	1.0	4180	BREAST	-	-	-	-	ADCK3	uc001hqn.1,p.P117fs|uc010pvp.1,p.P80fs|ENST00000366779,p.P117fs|uc009xeq.1,p.P65fs|ENST00000366777,p.P117fs|uc001hqm.1,p.P117fs|NM_020247,p.P117fs|ENST00000366778,p.P65fs	protein_coding, processed_transcript	uc010pvp.1	frameshift insertion	exon4	c.239_240insA	p.P80fs	PSLGHAHSEGPAPAYVASGPFREAG	PSLGHAHSEGPAPCLRGQWTL	9.0	7.0	unscreened	-	4180_1:227152873-227152873 ->A_PSLGHAHSEGPAPCLRGQWTL
2:238725990-238725990 T>-	0.0	4180	BREAST	-	-	ID=COSM1406660,COSM1406661;OCCURENCE=1(large_intestine)	-	RBM44	uc002vxi.4,p.V144fs|ENST00000316997,p.V144fs|NM_001080504,p.V144fs|ENST00000409864,p.V144fs	retained_intron, protein_coding, processed_transcript	uc002vxi.4	frameshift deletion	exon3	c.431delT	p.V144fs	SELDPEVQKKEEVFFNILEHQDKTV	SELDPEVQKKEEVFLIFWNIKIRLLAWKESTIFQMLIIEKVLKIHKSMIQMKTHSRNITVQKNKNT	2.0	2.0	unscreened	-	4180_2:238725990-238725990 T>-_SELDPEVQKKEEVFLIFWNIKIRLLAWKESTIFQMLIIEKVLKIHKSMIQMKTHSRNITVQKNKNT
9:19089480-19089480 C>T	1.0	4180	BREAST	-	-	-	-	HAUS6	uc011lmz.3,p.A172T|ENST00000380502,p.A172T|NM_017645,p.A172T|ENST00000380496,p.A36T|uc003znl.1,p.A36T|uc003znk.4,p.A172T|NM_001270890,p.A172T|uc022bdv.2,p.A36T	protein_coding	uc022bdv.2	nonsynonymous SNV	exon3	c.G106A	p.A36T	QDLHKCIARCHFARSRFLQILQRQD	QDLHKCIARCHFTRSRFLQILQRQD	7.0	6.0	unscreened	-	4180_9:19089480-19089480 C>T_QDLHKCIARCHFTRSRFLQILQRQD
1:35370731-35370731 C>-	0.0	4180	BREAST	-	-	ID=COSM1342092;OCCURENCE=2(large_intestine)	-	DLGAP3	NM_001080418,p.G85fs|uc001byc.3,p.G85fs|ENST00000235180,p.G85fs|ENST00000373347,p.G85fs	protein_coding, processed_transcript	uc001byc.3	frameshift deletion	exon1	c.254delG	p.G85fs	PEGGPAGAGVGGGSSTFPRMYPGQG	PEGGPAGAGVGGVAAPSPGCTLARAPSTPVKTVWATHRARVPPACLLHSWISLKSSCQFNKMASTHYHTSEGQQGQGPGQRQGRALPQSPAVRALAASGTWFILCRSSLPSPTLWRRRGSGTIMGPRLREEVALEETATPARALEAPTPPITTITTTITTTTSPGTARGARARTARGMGGTRPSPQAGGVPMTTWTVIAASWRVGGPLGSLVVPSAWRVQMGPTGT	3.0	7.0	unscreened	-	4180_1:35370731-35370731 C>-_PEGGPAGAGVGGVAAPSPGCTLARAPSTPVKTVWATHRARVPPACLLHSWISLKSSCQFNKMASTHYHTSEGQQGQGPGQRQGRALPQSPAVRALAASGTWFILCRSSLPSPTLWRRRGSGTIMGPRLREEVALEETATPARALEAPTPPITTITTTITTTTSPGTARGARARTARGMGGTRPSPQAGGVPMTTWTVIAASWRVGGPLGSLVVPSAWRVQMGPTGT
3:20216050-20216050 T>-	0.0	4180	BREAST	-	-	ID=COSM1422145;OCCURENCE=6(large_intestine)	-	SGOL1	ENST00000412997,p.M325fs|NM_001012410,p.M325fs|ENST00000263753,p.M325fs|NM_001199252,p.M325fs|NM_001012409,p.M325fs|NM_001199251,p.M325fs|uc003cbu.3,p.M325fs|uc003cbs.3,p.M325fs|uc003cca.3,p.M325fs|ENST00000421451,p.M325fs|ENST00000412868,p.M325fs|uc003cbz.3,p.M325fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc003cca.3	frameshift deletion	exon6	c.973delA	p.M325fs	KSENKKTVPQKKMHKSVSSNDAYNF	KSENKKTVPQKKCTNLSVPMMLTILIWKRVFILLLSDKK	7.0	7.0	unscreened	-	4180_3:20216050-20216050 T>-_KSENKKTVPQKKCTNLSVPMMLTILIWKRVFILLLSDKK
17:10101698-10101698 C>T	0.0	4180	BREAST	-	-	ID=COSM1207934;OCCURENCE=1(large_intestine)	1	GAS7	uc002gmg.1,p.A4T|ENST00000432992,p.A4T|NM_201433,p.A4T	retained_intron, protein_coding, processed_transcript	uc002gmg.1	nonsynonymous SNV	exon1	c.G10A	p.A4T	MSGARCRTLYPFSGER	MSGTRCRTLYPFSGER	6.0	6.0	unscreened	-	4180_17:10101698-10101698 C>T_MSGTRCRTLYPFSGER
19:44418584-44418584 T>C	0.0	4180	BREAST	-	-	-	-	ZNF45	NM_003425,p.N335S|ENST00000269973,p.N335S|uc002oxu.2,p.N335S|ENST00000589703,p.N335S|uc002oxw.2,p.N335S	protein_coding, processed_transcript	uc002oxw.2	nonsynonymous SNV	exon10	c.A1004G	p.N335S	ERIHTGEKPYKCNACGKSFSYSSHL	ERIHTGEKPYKCSACGKSFSYSSHL	7.0	7.0	unscreened	-	4180_19:44418584-44418584 T>C_ERIHTGEKPYKCSACGKSFSYSSHL
17:49157025-49157025 T>-	1.0	4180	BREAST	-	-	ID=COSM1384413;OCCURENCE=1(large_intestine)	-	SPAG9	uc002itd.3,p.K115fs|NM_001130528,p.K115fs|NM_001130527,p.K115fs|ENST00000357122,p.K115fs|uc002itb.3,p.K115fs|uc002itc.3,p.K115fs|ENST00000505279,p.K115fs|NM_003971,p.K115fs|ENST00000262013,p.K115fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002itd.3	frameshift deletion	exon2	c.344delA	p.K115fs	FIEFEDSQEQEKKDLQTRVESLESQ	FIEFEDSQEQEKRTYRPEWNL	9.0	3.0	unscreened	-	4180_17:49157025-49157025 T>-_FIEFEDSQEQEKRTYRPEWNL
7:129019536-129019536 C>T	0.0	4180	BREAST	-	-	ID=COSM1085450,COSM1596740;OCCURENCE=1(endometrium)	-	AHCYL2	uc003vov.3,p.R38C|ENST00000466993,p.R39C|ENST00000460109,p.R39C|NM_001130722,p.R38C|ENST00000446544,p.R140C|uc011kov.2,p.R141C|ENST00000446212,p.R39C|ENST00000325006,p.R141C|ENST00000474594,p.R38C|uc011kox.2,p.R38C|NM_001130723,p.R38C|NM_001130720,p.R140C|ENST00000490911,p.R38C|uc003vot.3,p.R140C|ENST00000531335,p.R60C|NM_015328,p.R141C	retained_intron, protein_coding, processed_transcript	uc011kox.2	nonsynonymous SNV	exon2	c.C112T	p.R38C	KQEFNKRPTKIGRRSLSRSISQSST	KQEFNKRPTKIGCRSLSRSISQSST	6.0	1.0	unscreened	-	4180_7:129019536-129019536 C>T_KQEFNKRPTKIGCRSLSRSISQSST
1:182852411-182852411 C>T	0.0	4180	BREAST	-	-	-	-	DHX9	uc001gps.3,p.R804C|uc001gpt.3,p.R297C|NM_001357,p.R1018C|ENST00000367549,p.R1018C|uc001gpr.3,p.R1018C	protein_coding, processed_transcript	uc001gpt.3	nonsynonymous SNV	exon6	c.C889T	p.R297C	HKEKRKILTTEGRNALIHKSSVNCP	HKEKRKILTTEGCNALIHKSSVNCP	10.0	2.0	unscreened	-	4180_1:182852411-182852411 C>T_HKEKRKILTTEGCNALIHKSSVNCP
12:125396605-125396605 G>T	0.0	4180	BREAST	-	-	-	-	UBC	uc001ugs.4,p.D571E|uc001ugu.1,p.D495E|NM_021009,p.D571E|ENST00000538617,p.D191E|ENST00000339647,p.D571E|ENST00000546120,p.D495E|ENST00000536769,p.D571E|uc021rge.1,p.D571E	protein_coding, processed_transcript, nonsense_mediated_decay	uc021rge.1	nonsynonymous SNV	exon1	c.C1713A	p.D571E	KAKIQDKEGIPPDQQRLIFAGKQLE	KAKIQDKEGIPPEQQRLIFAGKQLE	10.0	7.0	unscreened	-	4180_12:125396605-125396605 G>T_KAKIQDKEGIPPEQQRLIFAGKQLE
12:235014-235014 C>T	0.0	4180	BREAST	-	-	-	-	IQSEC3	NM_001170738,p.A280V|ENST00000538872,p.A280V|ENST00000326261,p.A280V|uc001qhw.2,p.A280V	retained_intron, protein_coding, processed_transcript	uc001qhw.2	nonsynonymous SNV	exon3	c.C839T	p.A280V	ASPGRQQPALATALCPHAPAASDYE	ASPGRQQPALATVLCPHAPAASDYE	4.0	10.0	unscreened	-	4180_12:235014-235014 C>T_ASPGRQQPALATVLCPHAPAASDYE
2:183951917-183951917 A>-	0.0	4180	BREAST	-	-	-	-	DUSP19	ENST00000354221,p.R141fs|uc002upd.3,p.R141fs|NM_080876,p.R141fs	protein_coding, processed_transcript	uc002upd.3	frameshift deletion	exon3	c.423delA	p.R141fs	FPECFEFIEEAKRKDGVVLVHCNAG	FPECFEFIEEAKRKMEWFLFIVMQAFPGLLQL	3.0	10.0	unscreened	-	4180_2:183951917-183951917 A>-_FPECFEFIEEAKRKMEWFLFIVMQAFPGLLQL
1:33236653-33236653 T>A	0.0	4180	BREAST	-	-	-	-	KIAA1522	NM_020888,p.S625T|ENST00000401073,p.S625T|uc001bvu.1,p.S625T|ENST00000373481,p.S577T|NM_001198972,p.S566T|uc010ohm.1,p.S577T|uc001bvv.2,p.S566T|ENST00000373480,p.S566T	retained_intron, protein_coding	uc010ohm.1	nonsynonymous SNV	exon6	c.T1729A	p.S577T	PERVTSLRSPGASVSSSLTSLCSSS	PERVTSLRSPGATVSSSLTSLCSSS	8.0	1.0	unscreened	-	4180_1:33236653-33236653 T>A_PERVTSLRSPGATVSSSLTSLCSSS
14:20871540-20871540 C>T	1.0	4180	BREAST	-	-	-	-	TEP1	uc001vxe.3,p.R421K|ENST00000555727,p.R421K|ENST00000556935,p.R313K|NM_007110,p.R421K|uc010tlg.1,p.R313K|ENST00000262715,p.R421K	retained_intron, protein_coding, nonsense_mediated_decay	uc010tlg.1	nonsynonymous SNV	exon5	c.G938A	p.R313K	FPRYIGFLREEQRKFEKAGDTVSEK	FPRYIGFLREEQKKFEKAGDTVSEK	7.0	8.0	unscreened	-	4180_14:20871540-20871540 C>T_FPRYIGFLREEQKKFEKAGDTVSEK
12:124175165-124175165 T>C	1.0	4180	BREAST	-	-	-	-	TCTN2	ENST00000303372,p.L326P|uc001ufp.3,p.L326P|uc009zya.3,p.L325P|ENST00000426174,p.L325P|NM_024809,p.L326P|NM_001143850,p.L325P	retained_intron, protein_coding, nonsense_mediated_decay	uc009zya.3	nonsynonymous SNV	exon8	c.T974C	p.L325P	HNFDVKCVTNLELYQERDGIINAKI	HNFDVKCVTNLEPYQERDGIINAKI	6.0	10.0	unscreened	-	4180_12:124175165-124175165 T>C_HNFDVKCVTNLEPYQERDGIINAKI
11:6647857-6647857 C>T	0.0	4180	BREAST	-	-	-	-	DCHS1	uc001mem.1,p.G2097D|NM_003737,p.G2097D|ENST00000299441,p.G2097D	protein_coding	uc001mem.1	nonsynonymous SNV	exon15	c.G6290A	p.G2097D	TPIVSPRAVHAGGTNGPITYSILSG	TPIVSPRAVHAGDTNGPITYSILSG	5.0	4.0	unscreened	-	4180_11:6647857-6647857 C>T_TPIVSPRAVHAGDTNGPITYSILSG
17:55334441-55334442 TA>-	0.0	4180	BREAST	-	-	-	1	MSI2	ENST00000579590,p.V11fs|NM_170721,p.V11fs|uc002iva.3,p.V11fs|ENST00000322684,p.V11fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002iva.3	frameshift deletion	exon1	c.33_34del	p.V11fs	MADLTSVLTSVMFSPSSKMFIGG	MADLTSVLTSVVFSL	5.0	7.0	unscreened	-	4180_17:55334441-55334442 TA>-_MADLTSVLTSVVFSL
21:31661780-31661780 A>-	0.0	4180	BREAST	-	-	ID=COSM1180924;OCCURENCE=2(large_intestine)	-	KRTAP25-1	uc010glr.1,p.F10fs|ENST00000416044,p.F10fs|NM_001128598,p.F10fs	protein_coding	uc010glr.1	frameshift deletion	exon1	c.29delT	p.F10fs	MHNRSQGFFFSSCHPQNHVSYG	MHNRSQGFFSVVATPKTMSLMAVNHRALFFVAVNH	1.0	3.0	unscreened	-	4180_21:31661780-31661780 A>-_MHNRSQGFFSVVATPKTMSLMAVNHRALFFVAVNH
13:100982863-100982863 G>A	0.0	4180	BREAST	-	-	ID=COSM2047699;OCCURENCE=1(ovary)	-	PCCA	NM_001127692,p.R467H|ENST00000376279,p.R493H|NM_001178004,p.R493H|uc010aga.3,p.R467H|ENST00000376286,p.R467H|ENST00000376285,p.R493H|NM_000282,p.R493H|uc001voo.3,p.R493H|ENST00000424527,p.R27H|uc010tiz.2,p.R493H	protein_coding, processed_transcript	uc010tiz.2	nonsynonymous SNV	exon17	c.G1478A	p.R493H	NIALLREVIINSRFVKGDISTKFLS	NIALLREVIINSHFVKGDISTKFLS	7.0	1.0	unscreened	-	4180_13:100982863-100982863 G>A_NIALLREVIINSHFVKGDISTKFLS
12:49227067-49227067 T>C	1.0	4180	BREAST	-	-	-	-	DDX23	NM_004818,p.Y599C|ENST00000308025,p.Y599C|uc001rsm.3,p.Y599C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rsm.3	nonsynonymous SNV	exon13	c.A1796G	p.Y599C	KMLANFESGKHKYRQTVMFTATMPP	KMLANFESGKHKCRQTVMFTATMPP	10.0	8.0	-	-	4180_12:49227067-49227067 T>C_KMLANFESGKHKCRQTVMFTATMPP
9:91961929-91961929 T>C	1.0	4180	BREAST	-	-	-	-	SECISBP2	ENST00000375807,p.I523T|NM_001282689,p.I450T|uc004aqj.1,p.I523T|NM_001282690,p.I455T|uc011ltl.1,p.I455T|ENST00000534113,p.I455T|uc010mqo.1,p.I228T|ENST00000339901,p.I450T|uc004aqk.1,p.I450T|NM_001282688,p.I522T|uc011ltk.1,p.I522T|NM_024077,p.I523T	protein_coding, processed_transcript	uc011ltl.1	nonsynonymous SNV	exon11	c.T1364C	p.I455T	SAPLMKKGKQREIPKAKKPTSLKKI	SAPLMKKGKQRETPKAKKPTSLKKI	9.0	9.0	unscreened	-	4180_9:91961929-91961929 T>C_SAPLMKKGKQRETPKAKKPTSLKKI
3:52877763-52877763 T>C	0.0	4180	BREAST	-	-	-	-	TMEM110,TMEM110-MUSTN1	NM_001198974,p.M198V|uc003dgc.4,p.M198V|ENST00000355083,p.M198V|ENST00000504329,p.M198V|NM_198563,p.M198V|uc003dgd.3,p.M198V	protein_coding, processed_transcript, nonsense_mediated_decay	uc003dgd.3	nonsynonymous SNV	exon6	c.A592G	p.M198V	PIENPDLKLAIVMLIVPFFVNALMF	PIENPDLKLAIVVLIVPFFVNALMF	7.0	2.0	unscreened	-	4180_3:52877763-52877763 T>C_PIENPDLKLAIVVLIVPFFVNALMF
1:110906427-110906427 A>-	0.0	4180	BREAST	-	-	ID=COSM291751;OCCURENCE=1(large_intestine)	-	SLC16A4	uc010ovz.2,p.L372fs|ENST00000437429,p.L372fs|NM_001201548,p.L372fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ovz.2	frameshift deletion	exon7	c.1115delT	p.L372fs	AYAISSLQFPFFLYHWPKDGKTV	AYAISSLQFPFFCTIGRKMEKQS	4.0	1.0	unscreened	-	4180_1:110906427-110906427 A>-_AYAISSLQFPFFCTIGRKMEKQS
5:139940985-139940985 G>-	0.0	4180	BREAST	-	-	-	-	APBB3	ENST00000358580,p.P266fs|uc021yeh.1,p.P266fs|ENST00000511201,p.P264fs|uc011czi.1,p.P43fs|NM_133173,p.P266fs|ENST00000508496,p.P43fs|uc003lgb.1,p.P43fs|ENST00000412920,p.P264fs|uc003lge.1,p.P264fs|ENST00000357560,p.P266fs|ENST00000356738,p.P271fs|NM_006051,p.P273fs|uc003lgd.1,p.P271fs|ENST00000354402,p.P273fs|uc021yeg.1,p.P273fs|uc003lgc.1,p.P43fs|NM_133172,p.P271fs|NM_133174,p.P264fs|uc010jfq.1,p.P43fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021yeh.1	frameshift deletion	exon9	c.797delC	p.P266fs	RVEVSGDASCCSPDPISPEDLPRQV	RVEVSGDASCCSQTPSLLKTCHGKWSCWMR	6.0	3.0	unscreened	-	4180_5:139940985-139940985 G>-_RVEVSGDASCCSQTPSLLKTCHGKWSCWMR
11:1298432-1298432 G>T	1.0	4180	BREAST	-	-	-	-	TOLLIP	ENST00000542915,p.A171D|ENST00000263646,p.A193D|ENST00000530541,p.A171D|ENST00000317204,p.A221D|uc001ltf.3,p.A171D|uc001lte.3,p.A221D|ENST00000527886,p.A152D|uc009ycu.3,p.A160D|ENST00000525159,p.A160D|uc001ltd.3,p.A152D|NM_019009,p.A221D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009ycu.3	nonsynonymous SNV	exon5	c.C479A	p.A160D	CSPGMVPVALPPAAVNAQPRCSEED	CSPGMVPVALPPDAVNAQPRCSEED	9.0	4.0	unscreened	-	4180_11:1298432-1298432 G>T_CSPGMVPVALPPDAVNAQPRCSEED
5:141316862-141316862 G>A	0.0	4180	BREAST	-	-	ID=COSM300884;OCCURENCE=1(large_intestine)	-	KIAA0141	ENST00000432126,p.A417T|NM_014773,p.A417T|uc003lls.3,p.A417T|uc003llt.3,p.A417T|ENST00000194118,p.A417T|NM_001142603,p.A417T	retained_intron, protein_coding, processed_transcript	uc003llt.3	nonsynonymous SNV	exon11	c.G1249A	p.A417T	LGEALRCYQQSAALGNEAAQERLRA	LGEALRCYQQSATLGNEAAQERLRA	9.0	2.0	unscreened	-	4180_5:141316862-141316862 G>A_LGEALRCYQQSATLGNEAAQERLRA
X:32490403-32490403 G>A	0.0	4180	BREAST	0.0006	-	-	-	DMD	uc004dda.1,p.R943C|ENST00000378677,p.R939C|uc004dcz.2,p.R820C|NM_004006,p.R943C|ENST00000357033,p.R943C|NM_000109,p.R935C|NM_004009,p.R939C|uc004ddb.1,p.R935C|uc004dcy.1,p.R939C|NM_004010,p.R820C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004ddb.1	nonsynonymous SNV	exon22	c.C2803T	p.R935C	ELQTIFDTLPPMRYQETMSAIRTWV	ELQTIFDTLPPMCYQETMSAIRTWV	7.0	5.0	unscreened	-	4180_X:32490403-32490403 G>A_ELQTIFDTLPPMCYQETMSAIRTWV
5:153760178-153760178 A>G	0.0	4180	BREAST	-	-	-	-	GALNT10	ENST00000377661,p.S247G|ENST00000297107,p.S309G|uc003lvh.3,p.S309G|ENST00000425427,p.S309G|uc010jid.3,p.S150G|uc003lvg.1,p.S309G|NM_198321,p.S309G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jid.3	nonsynonymous SNV	exon3	c.A448G	p.S150G	IPIPPELQKADPSDPFESPVMAGGL	IPIPPELQKADPGDPFESPVMAGGL	7.0	8.0	unscreened	-	4180_5:153760178-153760178 A>G_IPIPPELQKADPGDPFESPVMAGGL
5:128302249-128302249 G>A	1.0	4180	BREAST	-	-	ID=COSM1060413;OCCURENCE=1(endometrium)	-	SLC27A6	uc003kuz.3,p.R140H|ENST00000506176,p.R140H|NM_001017372,p.R140H|ENST00000395266,p.R140H|uc003kuy.3,p.R140H|ENST00000262462,p.R140H|NM_014031,p.R140H	protein_coding	uc003kuz.3	nonsynonymous SNV	exon1	c.G419A	p.R140H	LGCVVAFLNTNIRSNSLLNCIRACG	LGCVVAFLNTNIHSNSLLNCIRACG	6.0	6.0	unscreened	-	4180_5:128302249-128302249 G>A_LGCVVAFLNTNIHSNSLLNCIRACG
3:12942841-12942841 G>-	0.0	4180	BREAST	-	-	-	-	IQSEC1	NM_001134382,p.H996fs|uc011auw.2,p.H996fs	protein_coding, processed_transcript	uc011auw.2	frameshift deletion	exon15	c.2986delC	p.H996fs	AHLPSAPALPPPHPPVVLPHLQHSV	AHLPSAPALPPPTHRWSCLTCSTLWLATTWGPQRGCRRPPCTGITPSTATCRTLPRTTITTTTTHPSTSSTHTSTTTAPMGATQPTGPMPTATRRCPRPTWGTQCTTMGSPLPRRPPPAARPNPAASAQLC	6.0	6.0	unscreened	-	4180_3:12942841-12942841 G>-_AHLPSAPALPPPTHRWSCLTCSTLWLATTWGPQRGCRRPPCTGITPSTATCRTLPRTTITTTTTHPSTSSTHTSTTTAPMGATQPTGPMPTATRRCPRPTWGTQCTTMGSPLPRRPPPAARPNPAASAQLC
5:110679757-110679757 A>G	0.0	4180	BREAST	-	-	-	-	CAMK4	ENST00000508074,p.K66R|NM_001744,p.K66R|ENST00000514007,p.K66R|ENST00000504544,p.K66R|ENST00000515231,p.K66R|ENST00000282356,p.K66R|uc003kpf.3,p.K66R|ENST00000512453,p.K66R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003kpf.3	nonsynonymous SNV	exon2	c.A197G	p.K66R	RGATSIVYRCKQKGTQKPYALKVLK	RGATSIVYRCKQRGTQKPYALKVLK	5.0	8.0	unscreened	-	4180_5:110679757-110679757 A>G_RGATSIVYRCKQRGTQKPYALKVLK
9:131355267-131355267 G>A	1.0	4180	BREAST	-	-	-	-	SPTAN1	ENST00000372731,p.R1054H|NM_001130438,p.R1054H|uc004bvm.4,p.R1054H|ENST00000372739,p.R1054H|ENST00000358161,p.R1054H|NM_003127,p.R1054H|uc011mbh.2,p.R1066H|uc004bvl.4,p.R1054H	protein_coding, processed_transcript	uc011mbh.2	nonsynonymous SNV	exon24	c.G3197A	p.R1066H	IALRQEQIDNQTRITKEAGSVSLRM	IALRQEQIDNQTHITKEAGSVSLRM	10.0	9.0	-	-	4180_9:131355267-131355267 G>A_IALRQEQIDNQTHITKEAGSVSLRM
11:57572167-57572167 G>A	1.0	4180	BREAST	-	-	-	2	CTNND1	NM_001085464,p.R445Q|uc001nlm.4,p.R546Q|NM_001085459,p.R546Q|uc001nmc.4,p.R546Q|ENST00000531014,p.R223Q|ENST00000533667,p.R223Q|ENST00000529919,p.R546Q|ENST00000529873,p.R492Q|NM_001206887,p.R492Q|NM_001085466,p.R445Q|uc001nlu.4,p.R445Q|ENST00000526772,p.R223Q|uc001nlv.4,p.R445Q|ENST00000415361,p.R445Q|ENST00000532649,p.R492Q|ENST00000527467,p.R223Q|uc001nlz.4,p.R223Q|ENST00000532844,p.R492Q|uc001nme.4,p.R546Q|uc001nmf.4,p.R546Q|ENST00000528621,p.R492Q|ENST00000428599,p.R546Q|NM_001085458,p.R546Q|uc001nln.4,p.R546Q|NM_001206888,p.R492Q|ENST00000529986,p.R445Q|uc001nlt.4,p.R445Q|ENST00000530094,p.R445Q|NM_001206883,p.R492Q|ENST00000361796,p.R546Q|ENST00000399050,p.R546Q|uc001nll.4,p.R492Q|uc001nlf.2,p.R546Q|NM_001085462,p.R546Q|uc001nlw.4,p.R445Q|uc001nmd.4,p.R492Q|ENST00000358694,p.R546Q|NM_001085463,p.R445Q|uc001nlh.1,p.R546Q|ENST00000529526,p.R492Q|ENST00000360682,p.R546Q|ENST00000530748,p.R492Q|NM_001206884,p.R492Q|uc001nly.4,p.R223Q|uc001nma.4,p.R223Q|ENST00000532787,p.R445Q|ENST00000525902,p.R223Q|NM_001331,p.R546Q|uc001nmg.4,p.R492Q|NM_001085465,p.R445Q|ENST00000361391,p.R546Q|ENST00000524630,p.R546Q|uc001nmb.4,p.R223Q|NM_001085461,p.R546Q|ENST00000528232,p.R445Q|ENST00000361332,p.R546Q|NM_001206886,p.R492Q|uc001nls.4,p.R445Q|ENST00000399039,p.R546Q|ENST00000526357,p.R492Q|NM_001206890,p.R445Q|NM_001206891,p.R492Q|ENST00000426142,p.R445Q|uc021qjk.1,p.R546Q|uc001nlj.4,p.R492Q|NM_001085460,p.R546Q|uc001nlr.4,p.R492Q|uc009ymn.3,p.R223Q|NM_001206889,p.R492Q|ENST00000532245,p.R445Q|uc001nmh.4,p.R546Q|NM_001085469,p.R445Q|uc001nlq.4,p.R445Q|NM_001085468,p.R445Q|ENST00000532463,p.R445Q|uc001nmi.4,p.R445Q|uc001nlo.4,p.R445Q|uc001nli.4,p.R546Q|NM_001206885,p.R546Q|ENST00000534579,p.R492Q|uc001nlp.4,p.R492Q|uc001nlk.4,p.R492Q|NM_001085467,p.R445Q|uc001nlx.4,p.R223Q|ENST00000526938,p.R546Q	retained_intron, protein_coding	uc021qjk.1	nonsynonymous SNV	exon9	c.G1637A	p.R546Q	LRNVSSERSEARRKLRECDGLVDAL	LRNVSSERSEARQKLRECDGLVDAL	9.0	9.0	unscreened	-	4180_11:57572167-57572167 G>A_LRNVSSERSEARQKLRECDGLVDAL
1:53793512-53793514 GCA>-	0.0	4180	BREAST	-	-	-	-	LRP8	uc001cvi.2,p.24_25del|uc001cvl.2,p.24_25del|NM_001018054,p.24_25del|NM_004631,p.24_25del|ENST00000306052,p.24_25del|ENST00000480045,p.24_25del|NM_017522,p.24_25del|ENST00000347547,p.24_25del|ENST00000371454,p.24_25del|uc001cvk.2,p.24_25del|NM_033300,p.24_25del|ENST00000354412,p.24_25del|uc001cvj.2,p.24_25del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001cvl.2	nonframeshift deletion	exon1	c.71_73del	p.24_25del	LALLLLLLLLLLLQLQHLAAAAADP	LALLLLLLLLLLQLQHLAAAAADPL	8.0	2.0	unscreened	-	4180_1:53793512-53793514 GCA>-_LALLLLLLLLLLQLQHLAAAAADPL
17:28706716-28706716 G>A	0.0	4180	BREAST	-	-	-	-	CPD	uc002hfb.2,p.A240T|NM_001304,p.A240T|ENST00000225719,p.A240T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002hfb.2	nonsynonymous SNV	exon1	c.G718A	p.A240T	EPPALDEVPEVRALIEWIRRNKFVL	EPPALDEVPEVRTLIEWIRRNKFVL	8.0	6.0	unscreened	-	4180_17:28706716-28706716 G>A_EPPALDEVPEVRTLIEWIRRNKFVL
20:47364362-47364362 G>A	0.0	4180	BREAST	-	-	-	-	PREX1	ENST00000396220,p.T92M|ENST00000371941,p.T92M|uc002xtw.1,p.T92M|NM_020820,p.T92M	protein_coding, processed_transcript, nonsense_mediated_decay	uc002xtw.1	nonsynonymous SNV	exon2	c.C275T	p.T92M	RQNVADSVEKGLTEENVKVLFSNIE	RQNVADSVEKGLMEENVKVLFSNIE	7.0	2.0	unscreened	-	4180_20:47364362-47364362 G>A_RQNVADSVEKGLMEENVKVLFSNIE
17:72540835-72540835 C>T	0.0	4180	BREAST	-	-	-	-	CD300C	NM_006678,p.A105T|uc002jky.2,p.A105T|ENST00000330793,p.A105T	protein_coding	uc002jky.2	nonsynonymous SNV	exon2	c.G313A	p.A105T	FTVTLENLTEEDAGTYWCGVDTPWL	FTVTLENLTEEDTGTYWCGVDTPWL	6.0	1.0	unscreened	-	4180_17:72540835-72540835 C>T_FTVTLENLTEEDTGTYWCGVDTPWL
12:13240845-13240845 C>A	1.0	4180	BREAST	-	-	-	-	GSG1	NM_001080554,p.V252F|uc001rbo.3,p.V252F|uc001rbq.2,p.V252F|ENST00000351606,p.V252F|ENST00000396302,p.V216F|NM_031289,p.V216F|uc001rbk.3,p.V216F	protein_coding	uc001rbq.2	nonsynonymous SNV	exon5	c.G754T	p.V252F	QTERLCCCFLCPVRSPGDGGPHDVF	QTERLCCCFLCPFRSPGDGGPHDVF	5.0	6.0	unscreened	-	4180_12:13240845-13240845 C>A_QTERLCCCFLCPFRSPGDGGPHDVF
10:70962776-70962776 T>C	0.0	4180	BREAST	-	-	-	-	SUPV3L1	NM_003171,p.F585L|NM_001301683,p.F454L|uc001jpe.1,p.F585L|uc010qjd.1,p.F454L|ENST00000359655,p.F585L	retained_intron, protein_coding, processed_transcript	uc010qjd.1	nonsynonymous SNV	exon14	c.T1360C	p.F454L	VFCTAPINKKQPFVCSSLLQFARQY	VFCTAPINKKQPLVCSSLLQFARQY	9.0	4.0	unscreened	-	4180_10:70962776-70962776 T>C_VFCTAPINKKQPLVCSSLLQFARQY
17:76117168-76117168 G>-	0.0	4180	BREAST	-	-	ID=COSM1288483;OCCURENCE=1(autonomic_ganglia)	-	TMC6	ENST00000322933,p.P126fs|ENST00000591436,p.P126fs|uc002jui.1,p.P126fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jui.1	frameshift deletion	exon3	c.378delC	p.P126fs	LPLVVGLLNLGAPYLCRVLAALEPH	LPLVVGLLNLGAPTCAVSWPPWSRMTPRYWRCTWPSAGLSPRRS	9.0	3.0	unscreened	-	4180_17:76117168-76117168 G>-_LPLVVGLLNLGAPTCAVSWPPWSRMTPRYWRCTWPSAGLSPRRS
5:133861427-133861427 G>T	0.0	4180	BREAST	-	-	-	-	JADE2	NM_001289985,p.G15W|uc003kzk.2,p.G15W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003kzk.2	nonsynonymous SNV	exon1	c.G43T	p.G15W	PTAAIAVGGYFLGGMEEKRRKYSIS	PTAAIAVGGYFLWGMEEKRRKYSIS	7.0	10.0	unscreened	-	4180_5:133861427-133861427 G>T_PTAAIAVGGYFLWGMEEKRRKYSIS
10:48428696-48428696 G>A	0.0	4180	BREAST	-	-	-	-	GDF10	uc009xnp.3,p.P396L|NM_004962,p.P397L|ENST00000224605,p.P397L|uc009xnq.2,p.P397L|uc001jfb.3,p.P397L	protein_coding	uc009xnq.2	nonsynonymous SNV	exon2	c.C1190T	p.P397L	FADIGWNEWIISPKSFDAYYCAGAC	FADIGWNEWIISLKSFDAYYCAGAC	3.0	8.0	unscreened	-	4180_10:48428696-48428696 G>A_FADIGWNEWIISLKSFDAYYCAGAC
1:43893726-43893726 T>C	1.0	4180	BREAST	-	-	-	-	SZT2	NM_015284,p.Y1229H|ENST00000562955,p.Y1229H|uc001cjk.3,p.Y1229H|ENST00000372442,p.Y387H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001cjk.3	nonsynonymous SNV	exon26	c.T3685C	p.Y1229H	HPSPSSAWMEPRYKEAANHCALLQE	HPSPSSAWMEPRHKEAANHCALLQE	6.0	7.0	unscreened	-	4180_1:43893726-43893726 T>C_HPSPSSAWMEPRHKEAANHCALLQE
14:105419446-105419446 T>G	1.0	4180	BREAST	-	-	ID=COSM3931892;OCCURENCE=1(urinary_tract)	-	AHNAK2	uc010axc.1,p.K781T|ENST00000333244,p.K781T|NM_138420,p.K781T|uc001ypx.2,p.K681T	retained_intron, protein_coding	uc010axc.1	nonsynonymous SNV	exon7	c.A2342C	p.K781T	PKVDLKGPKLDLKGPKAEVTAPDVK	PKVDLKGPKLDLTGPKAEVTAPDVK	8.0	8.0	unscreened	-	4180_14:105419446-105419446 T>G_PKVDLKGPKLDLTGPKAEVTAPDVK
12:49392274-49392274 T>-	0.0	4180	BREAST	-	-	-	-	DDN	NM_015086,p.R129fs|ENST00000421952,p.R129fs|uc001rsv.1,p.R129fs	protein_coding	uc001rsv.1	frameshift deletion	exon2	c.385delA	p.R129fs	SQEREAKETERKRRKAGGARRSPPG	SQEREAKETERKGARLVGPDGAPRVDPARSPATPLGWPSWQGSLLPCGRSAWRLWGERPVHPRSRRATQGRRGRGPGEVGGPGPQATRLTCC	5.0	3.0	unscreened	-	4180_12:49392274-49392274 T>-_SQEREAKETERKGARLVGPDGAPRVDPARSPATPLGWPSWQGSLLPCGRSAWRLWGERPVHPRSRRATQGRRGRGPGEVGGPGPQATRLTCC
19:51885678-51885678 A>-	0.0	4180	BREAST	-	-	-	-	LIM2	uc002pwl.2,p.S149fs|uc002pwm.2,p.S107fs|NM_001161748,p.S107fs|ENST00000596399,p.S107fs|ENST00000221973,p.S149fs|NM_030657,p.S149fs	protein_coding	uc002pwm.2	frameshift deletion	exon3	c.319delT	p.S107fs	ISRPFSAGIMFFSSTLFVVLALAIY	ISRPFSAGIMFFPQPFSSCWPWPSTLESPSASWAAALGTGAFPGPTSWAGWQCS	1.0	5.0	unscreened	-	4180_19:51885678-51885678 A>-_ISRPFSAGIMFFPQPFSSCWPWPSTLESPSASWAAALGTGAFPGPTSWAGWQCS
X:153770665-153770665 G>A	0.0	4180	BREAST	-	-	-	-	IKBKG	uc011mzr.2,p.A63T|ENST00000369609,p.A63T|NM_001099856,p.A63T	retained_intron, protein_coding, processed_transcript	uc011mzr.2	nonsynonymous SNV	exon1	c.G187A	p.A63T	TLVYKARAFWKGAPLPCWMNRHLWK	TLVYKARAFWKGTPLPCWMNRHLWK	8.0	5.0	unscreened	-	4180_X:153770665-153770665 G>A_TLVYKARAFWKGTPLPCWMNRHLWK
17:7149598-7149598 A>C	0.0	4180	BREAST	-	-	-	-	CTDNEP1	uc002gfd.2,p.I151S|uc002gfe.2,p.I151S|ENST00000574205,p.I151S|NM_015343,p.I151S|ENST00000574322,p.I151S|ENST00000573600,p.I151S|ENST00000575783,p.I151S|NM_001143775,p.I151S|ENST00000572043,p.I18S|ENST00000318988,p.I151S	retained_intron, protein_coding, nonsense_mediated_decay	uc002gfe.2	nonsynonymous SNV	exon6	c.T452G	p.I151S	SAVADKLDNSRSILKRRYYRQHCTL	SAVADKLDNSRSSLKRRYYRQHCTL	9.0	4.0	unscreened	-	4180_17:7149598-7149598 A>C_SAVADKLDNSRSSLKRRYYRQHCTL
6:4069026-4069026 T>C	0.0	4180	BREAST	-	-	-	-	FAM217A	uc003mvx.3,p.I477M|NM_173563,p.I477M|uc003mvy.3,p.I414M|ENST00000274673,p.I477M	protein_coding, processed_transcript	uc003mvy.3	nonsynonymous SNV	exon5	c.A1242G	p.I414M	NFGTKKKLYRQNIVLNRPFSIQKLN	NFGTKKKLYRQNMVLNRPFSIQKLN	1.0	10.0	unscreened	-	4180_6:4069026-4069026 T>C_NFGTKKKLYRQNMVLNRPFSIQKLN
11:57367512-57367515 CAAC>-	0.0	4180	BREAST	-	-	-	-	SERPING1	uc010rjv.1,p.T76fs|ENST00000403558,p.T105fs|ENST00000405496,p.T71fs|ENST00000378324,p.T19fs|ENST00000378323,p.T76fs|uc010rju.1,p.T19fs|uc001nkp.1,p.T71fs|ENST00000278407,p.T71fs|ENST00000457869,p.T105fs|uc001nkr.1,p.T71fs|ENST00000340687,p.T71fs|NM_000062,p.T71fs|NM_001032295,p.T71fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rjv.1	frameshift deletion	exon3	c.227_230del	p.T76fs	ILEVSSLPTTNSTTNSATKITANTT	ILEVSSLPTTNSTIQPPK	10.0	6.0	unscreened	-	4180_11:57367512-57367515 CAAC>-_ILEVSSLPTTNSTIQPPK
15:56285722-56285722 A>C	0.0	4180	BREAST	-	-	-	-	NEDD4	NM_006154,p.L11R|ENST00000435532,p.L11R|uc002adl.3,p.L11R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002adl.3	nonsynonymous SNV	exon1	c.T32G	p.L11R	MATCAVEVFGLLEDEENSRIVRV	MATCAVEVFGRLEDEENSRIVRV	6.0	4.0	unscreened	-	4180_15:56285722-56285722 A>C_MATCAVEVFGRLEDEENSRIVRV
7:54617844-54617844 ->A	0.0	4180	BREAST	-	-	-	-	VSTM2A	uc022adk.1,p.P205fs|ENST00000402026,p.P204fs|ENST00000302287,p.P205fs	retained_intron, protein_coding, processed_transcript	uc022adk.1	frameshift insertion	exon4	c.616dupA	p.P205fs	HSTSSPQVVAKIPKQSPQSGMETHF	HSTSSPQVVAKIPKTKSTIRYGNPFRAFYFTTHKRSTERSVV	1.0	2.0	unscreened	-	4180_7:54617844-54617844 ->A_HSTSSPQVVAKIPKTKSTIRYGNPFRAFYFTTHKRSTERSVV
7:133824220-133824220 G>A	0.0	4180	BREAST	-	-	-	-	LRGUK	NM_144648,p.C146Y|ENST00000285928,p.C146Y|uc003vrm.1,p.C146Y	protein_coding, processed_transcript	uc003vrm.1	nonsynonymous SNV	exon3	c.G437A	p.C146Y	LSGCNLIDVSILCGYVHLQKLDLSA	LSGCNLIDVSILYGYVHLQKLDLSA	1.0	3.0	unscreened	-	4180_7:133824220-133824220 G>A_LSGCNLIDVSILYGYVHLQKLDLSA
X:96173567-96173567 T>C	1.0	4180	BREAST	-	-	-	-	DIAPH2	uc004efu.4,p.F310S|ENST00000355827,p.F310S|ENST00000373061,p.F310S|ENST00000324765,p.F310S|uc004eft.4,p.F310S|uc004efs.2,p.F317S|ENST00000373054,p.F306S|ENST00000373049,p.F310S|NM_006729,p.F310S|NM_007309,p.F310S	protein_coding	uc004efu.4	nonsynonymous SNV	exon9	c.T929C	p.F310S	ITTAAERNNRERFSPIVEGLENQEA	ITTAAERNNRERSSPIVEGLENQEA	8.0	3.0	unscreened	-	4180_X:96173567-96173567 T>C_ITTAAERNNRERSSPIVEGLENQEA
6:157505557-157505557 C>T	1.0	4180	BREAST	-	-	-	1	ARID1B	ENST00000367148,p.P1220S|uc003qqn.3,p.P1220S|ENST00000350026,p.P1167S|NM_020732,p.P1180S|ENST00000346085,p.P1180S|ENST00000414678,p.P689S|ENST00000275248,p.P1162S|NM_017519,p.P1167S|uc003qqo.3,p.P1180S|uc003qqp.3,p.P1167S	retained_intron, protein_coding, processed_transcript	uc003qqp.3	nonsynonymous SNV	exon12	c.C3499T	p.P1167S	STGDTKKQPKLQPPSPANSGSLQGP	STGDTKKQPKLQSPSPANSGSLQGP	7.0	10.0	unscreened	-	4180_6:157505557-157505557 C>T_STGDTKKQPKLQSPSPANSGSLQGP
1:227842767-227842767 C>A	0.0	4180	BREAST	-	-	ID=COSM1601762,COSM1601761;OCCURENCE=1(liver)	-	ZNF678	uc001hqw.2,p.N272K|ENST00000397097,p.N327K|ENST00000343776,p.N272K|uc021pjy.1,p.N327K|NM_178549,p.N327K	protein_coding, processed_transcript	uc021pjy.1	nonsynonymous SNV	exon4	c.C981A	p.N327K	TGEKPYKCEECGNVFNECSHLTRHR	TGEKPYKCEECGKVFNECSHLTRHR	6.0	5.0	unscreened	-	4180_1:227842767-227842767 C>A_TGEKPYKCEECGKVFNECSHLTRHR
X:51488055-51488055 G>A	0.0	4180	BREAST	-	-	-	-	GSPT2	NM_018094,p.V445M|uc004dpl.3,p.V445M|ENST00000340438,p.V445M	protein_coding	uc004dpl.3	nonsynonymous SNV	exon1	c.G1333A	p.V445M	LPIVDKYKDMGTVVLGKLESGSIFK	LPIVDKYKDMGTMVLGKLESGSIFK	7.0	3.0	unscreened	-	4180_X:51488055-51488055 G>A_LPIVDKYKDMGTMVLGKLESGSIFK
18:59942747-59942747 T>-	0.0	4180	BREAST	-	-	-	-	KIAA1468	uc002lik.1,p.I999fs|ENST00000587725,p.I999fs	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc002lik.1	frameshift deletion	exon22	c.2996delT	p.I999fs	CQHMPLLVSIIMIFFFLRRRREFFL	CQHMPLLVSIIMIFFFCEEEGNFF	7.0	7.0	unscreened	-	4180_18:59942747-59942747 T>-_CQHMPLLVSIIMIFFFCEEEGNFF
3:156877873-156877873 C>T	0.0	4180	BREAST	-	-	-	-	CCNL1	ENST00000461804,p.G4E|uc003fbd.1,p.G4E|ENST00000477127,p.G4E|NM_020307,p.G4E|uc003fbf.3,p.G4E|ENST00000470121,p.G4E|ENST00000295925,p.G4E|ENST00000475298,p.G4E|ENST00000465947,p.G4E|ENST00000295926,p.G4E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003fbf.3	nonsynonymous SNV	exon1	c.G11A	p.G4E	MASGPHSTATAAAAAS	MASEPHSTATAAAAAS	9.0	1.0	unscreened	-	4180_3:156877873-156877873 C>T_MASEPHSTATAAAAAS
6:31759412-31759412 C>T	1.0	4180	BREAST	-	-	-	-	VARS	ENST00000375663,p.A359T|NM_006295,p.A359T|ENST00000444930,p.A64T|uc003nxe.3,p.A359T	retained_intron, protein_coding, processed_transcript	uc003nxe.3	nonsynonymous SNV	exon8	c.G1075A	p.A359T	TGSLHLGHALTNAIQDSLTRWHRMR	TGSLHLGHALTNTIQDSLTRWHRMR	10.0	9.0	unscreened	-	4180_6:31759412-31759412 C>T_TGSLHLGHALTNTIQDSLTRWHRMR
4:126402684-126402684 C>G	0.0	4180	BREAST	-	-	-	1	FAT4	uc011cgp.2,p.P2444A|ENST00000335110,p.P2444A	retained_intron, protein_coding	uc011cgp.2	nonsynonymous SNV	exon13	c.C7330G	p.P2444A	EKKCKKVCFTVTPDTALSLEGKGRL	EKKCKKVCFTVTADTALSLEGKGRL	3.0	10.0	unscreened	-	4180_4:126402684-126402684 C>G_EKKCKKVCFTVTADTALSLEGKGRL
4:114468812-114468812 A>C	0.0	4180	BREAST	-	-	-	-	CAMK2D	uc003ibo.4,p.H134Q|ENST00000511664,p.H134Q|ENST00000505990,p.H134Q	retained_intron, protein_coding, processed_transcript	uc003ibo.4	nonsynonymous SNV	exon6	c.T402G	p.H134Q	EAVLHCHQMGVVHRDLKPENLLLAS	EAVLHCHQMGVVQRDLKPENLLLAS	9.0	1.0	unscreened	-	4180_4:114468812-114468812 A>C_EAVLHCHQMGVVQRDLKPENLLLAS
12:77449657-77449657 T>C	1.0	4180	BREAST	-	-	-	-	E2F7	uc001sym.4,p.D116G|NM_203394,p.D116G|ENST00000322886,p.D116G|ENST00000416496,p.D116G|ENST00000550669,p.D116G	retained_intron, protein_coding, nonsense_mediated_decay	uc001sym.4	nonsynonymous SNV	exon3	c.A347G	p.D116G	KKGLFRPIENKDDAFTDSLQLDVVG	KKGLFRPIENKDGAFTDSLQLDVVG	5.0	9.0	unscreened	-	4180_12:77449657-77449657 T>C_KKGLFRPIENKDGAFTDSLQLDVVG
5:72264329-72264329 A>-	0.0	4180	BREAST	-	-	ID=COSM295078,COSM295079;OCCURENCE=1(large_intestine),1(oesophagus)	-	FCHO2	uc011csl.2,p.E13fs|ENST00000287761,p.E13fs|NM_001146032,p.E13fs|ENST00000430046,p.E13fs|uc003kcl.3,p.E13fs|ENST00000512348,p.E13fs|NM_138782,p.E13fs|uc011csk.1,p.E13fs|ENST00000341845,p.E13fs|ENST00000507345,p.E13fs	retained_intron, protein_coding	uc011csl.2	frameshift deletion	exon2	c.38delA	p.E13fs	MVMAYFVENFWGEKNSGFDVLYHNM	MVMAYFVENFWGEKIVALMSSTII	7.0	8.0	unscreened	-	4180_5:72264329-72264329 A>-_MVMAYFVENFWGEKIVALMSSTII
4:123165029-123165029 A>-	0.0	4180	BREAST	-	-	ID=COSM1642393;OCCURENCE=1(stomach)	-	KIAA1109	ENST00000388738,p.E1588fs|ENST00000455637,p.E1588fs|uc003iek.2,p.E207fs|NM_015312,p.E1588fs|ENST00000264501,p.E1588fs|uc003ieh.3,p.E1588fs	retained_intron, protein_coding, processed_transcript	uc003iek.2	frameshift deletion	exon3	c.620delA	p.E207fs	SGSTSNTPYTPLEKKLADNTDDETL	SGSTSNTPYTPLEKNSLITQMMKH	7.0	1.0	unscreened	-	4180_4:123165029-123165029 A>-_SGSTSNTPYTPLEKNSLITQMMKH
17:25910015-25910015 ->C	0.0	4180	BREAST	-	-	ID=COSM292915,COSM292916;OCCURENCE=1(large_intestine)	-	KSR1	ENST00000398982,p.T23fs|ENST00000268763,p.T151fs|uc031qzj.1,p.T151fs|ENST00000319524,p.T288fs|ENST00000398988,p.T151fs|NM_014238,p.T151fs|ENST00000509603,p.T288fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qzj.1	frameshift insertion	exon2	c.454dupC	p.T151fs	QLRRHTKLKPPRTPPPPSRKVFQLL	QLRRHTKLKPPRTPPPTQPQGLPAAAQLPHTHPEQVP	8.0	1.0	unscreened	-	4180_17:25910015-25910015 ->C_QLRRHTKLKPPRTPPPTQPQGLPAAAQLPHTHPEQVP
7:128694763-128694763 T>C	0.0	4180	BREAST	-	-	-	-	TNPO3	uc010lly.2,p.D21G|NM_012470,p.D21G|ENST00000393245,p.D21G|ENST00000265388,p.D21G|uc010llz.2,p.D21G|ENST00000471234,p.D21G|uc003vol.2,p.D21G|NM_001191028,p.D21G|ENST00000471166,p.D21G	protein_coding	uc010llz.2	nonsynonymous SNV	exon1	c.A62G	p.D21G	QLVYQAVQALYHDPDPSGKERASFW	QLVYQAVQALYHGPDPSGKERASFW	9.0	1.0	unscreened	-	4180_7:128694763-128694763 T>C_QLVYQAVQALYHGPDPSGKERASFW
22:30228238-30228238 G>A	0.0	4180	BREAST	0.0037	-	-	-	ASCC2	ENST00000449900,p.A26V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000449900	nonsynonymous SNV	exon4	c.C77T	p.A26V	KDPKTGKLRTSPALETSLHSSQVTT	KDPKTGKLRTSPVLETSLHSSQVTT	9.0	2.0	unscreened	-	4180_22:30228238-30228238 G>A_KDPKTGKLRTSPVLETSLHSSQVTT
8:104388063-104388063 G>A	0.0	4180	BREAST	-	-	ID=COSM1453728;OCCURENCE=1(large_intestine)	-	CTHRC1	ENST00000415886,p.R83Q|uc011lhq.2,p.R83Q|ENST00000520337,p.R69Q|NM_138455,p.R83Q|uc003ylk.4,p.R83Q|NM_001256099,p.R69Q|ENST00000330295,p.R83Q|uc031tbz.1,p.R69Q	protein_coding	uc031tbz.1	nonsynonymous SNV	exon2	c.G206A	p.R69Q	ANGIPGTPGIPGRDGFKGEKGECLR	ANGIPGTPGIPGQDGFKGEKGECLR	10.0	2.0	unscreened	-	4180_8:104388063-104388063 G>A_ANGIPGTPGIPGQDGFKGEKGECLR
1:33236065-33236065 G>A	1.0	4180	BREAST	-	-	ID=COSM1738545,COSM1738546;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	KIAA1522	ENST00000373481,p.G381S|ENST00000373480,p.G370S|NM_020888,p.G429S|uc001bvv.2,p.G370S|uc010ohm.1,p.G381S|uc001bvu.1,p.G429S|ENST00000401073,p.G429S|NM_001198972,p.G370S	retained_intron, protein_coding	uc010ohm.1	nonsynonymous SNV	exon6	c.G1141A	p.G381S	SHSQSSDTIVSDGSTLSSKGGSEGQ	SHSQSSDTIVSDSSTLSSKGGSEGQ	8.0	8.0	unscreened	-	4180_1:33236065-33236065 G>A_SHSQSSDTIVSDSSTLSSKGGSEGQ
10:8051130-8051130 C>-	0.0	4180	BREAST	-	-	-	-	TAF3	uc010qbd.3,p.A802fs|NM_031923,p.A802fs|ENST00000344293,p.A802fs	protein_coding	uc010qbd.3	frameshift deletion	exon5	c.2405delC	p.A802fs	NRPKTPPPAPAPAPGPMLVSPAPVP	NRPKTPPPAPAPAPAPCSSALRPCRCRCSPRPPRALPCCPPRVPPPPGPVPKPPCAAW	8.0	4.0	unscreened	-	4180_10:8051130-8051130 C>-_NRPKTPPPAPAPAPAPCSSALRPCRCRCSPRPPRALPCCPPRVPPPPGPVPKPPCAAW
9:130869339-130869339 C>T	0.0	4180	BREAST	-	-	-	-	SLC25A25	ENST00000373064,p.A369V|uc004btd.4,p.A401V|NM_052901,p.A369V|ENST00000373066,p.A401V|uc004bte.4,p.A369V|NM_001006642,p.A389V|uc004btf.4,p.A266V|ENST00000433501,p.A266V|NM_001006641,p.A403V|ENST00000373069,p.A415V|ENST00000373068,p.A403V|NM_001265614,p.A401V|ENST00000432073,p.A389V|uc004btc.4,p.A389V|uc004btb.4,p.A403V	retained_intron, protein_coding, nonsense_mediated_decay	uc004btf.4	nonsynonymous SNV	exon9	c.C797T	p.A266V	YETLKNAWLQHYAVNSADPGVFVLL	YETLKNAWLQHYVVNSADPGVFVLL	7.0	5.0	unscreened	-	4180_9:130869339-130869339 C>T_YETLKNAWLQHYVVNSADPGVFVLL
16:88066801-88066801 G>A	0.0	4180	BREAST	-	-	-	-	BANP	uc002fkq.3,p.A345T|uc010vov.2,p.A351T|ENST00000355022,p.A345T|NM_001173543,p.A376T|uc021tml.1,p.A384T|ENST00000538234,p.A384T|ENST00000393207,p.A376T|uc002fko.1,p.A281T|NM_001173539,p.A384T|ENST00000393208,p.A345T|NM_017869,p.A345T|ENST00000286122,p.A376T|uc002fks.4,p.A345T|ENST00000479780,p.A345T|NM_079837,p.A345T|uc010vow.2,p.A384T|NM_001173541,p.A345T|uc002fkr.3,p.A376T|NM_001173542,p.A384T|uc002fkp.3,p.A345T|NM_001173540,p.A351T|ENST00000355163,p.A351T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tml.1	nonsynonymous SNV	exon9	c.G1150A	p.A384T	PQPQALHYALANAQQVQIHQIGEDG	PQPQALHYALANTQQVQIHQIGEDG	7.0	4.0	unscreened	-	4180_16:88066801-88066801 G>A_PQPQALHYALANTQQVQIHQIGEDG
17:16593766-16593766 C>T	0.0	4180	BREAST	-	-	-	-	CCDC144A	NM_014695,p.P18S|ENST00000448331,p.P18S|ENST00000456009,p.P18S|ENST00000360524,p.P18S|ENST00000443444,p.P18S|uc002gqk.1,p.P18S|ENST00000340621,p.P18S|ENST00000399273,p.P18S|ENST00000360495,p.P18S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gqk.1	nonsynonymous SNV	exon1	c.C52T	p.P18S	GEKRGGAEGSPKPAVYATRKTPSVG	GEKRGGAEGSPKSAVYATRKTPSVG	5.0	10.0	unscreened	-	4180_17:16593766-16593766 C>T_GEKRGGAEGSPKSAVYATRKTPSVG
1:17431527-17431527 C>T	0.0	4180	BREAST	-	-	-	-	PADI2	NM_007365,p.S41N|ENST00000375481,p.S41N|uc010ocm.2,p.S41N|ENST00000375486,p.S41N|uc001bag.1,p.S41N|ENST00000444885,p.S41N|uc001baf.3,p.S41N	protein_coding, processed_transcript	uc010ocm.2	nonsynonymous SNV	exon2	c.G122A	p.S41N	VYSAAPAGAQTFSLKHSEHVWVEVV	VYSAAPAGAQTFNLKHSEHVWVEVV	10.0	3.0	unscreened	-	4180_1:17431527-17431527 C>T_VYSAAPAGAQTFNLKHSEHVWVEVV
20:2297776-2297776 C>-	0.0	4180	BREAST	-	-	-	-	TGM3	NM_003245,p.G244fs|uc002wfx.4,p.G244fs|ENST00000381458,p.G244fs	protein_coding, processed_transcript	uc002wfx.4	frameshift deletion	exon6	c.732delC	p.G244fs	VLAGNWSGTYTGGRDPRSWNGSVEI	VLAGNWSGTYTGGGTQGAGTAAWRSSKIGKNLASAQSDMASAGSLLGPSTQRCGLWGFLPG	4.0	4.0	unscreened	-	4180_20:2297776-2297776 C>-_VLAGNWSGTYTGGGTQGAGTAAWRSSKIGKNLASAQSDMASAGSLLGPSTQRCGLWGFLPG
17:45925496-45925496 C>T	0.0	4180	BREAST	-	-	-	-	SP6	ENST00000342234,p.M100I|ENST00000536300,p.M100I|uc002imh.1,p.M100I|NM_001258248,p.M100I|uc002img.2,p.M100I|NM_199262,p.M100I|uc021tzc.1,p.M100I	protein_coding	uc021tzc.1	nonsynonymous SNV	exon1	c.G300A	p.M100I	APGPFSKLLQPDMSHHYESWFRPTH	APGPFSKLLQPDISHHYESWFRPTH	5.0	4.0	unscreened	-	4180_17:45925496-45925496 C>T_APGPFSKLLQPDISHHYESWFRPTH
2:96525640-96525640 G>T	0.0	4180	BREAST	-	rs77864759	-	-	LINC00342,FAHD2CP	ENST00000419039,p.L316I|ENST00000456556,p.L1289I|ENST00000420871,p.L540I|uc002suz.1,p.L316I	retained_intron, protein_coding, nonsense_mediated_decay	uc002suz.1	nonsynonymous SNV	exon29	c.C946A	p.L316I	KEEIKSQLKHETLELEKELCSLRFA	KEEIKSQLKHETIELEKELCSLRFA	7.0	5.0	unscreened	-	4180_2:96525640-96525640 G>T_KEEIKSQLKHETIELEKELCSLRFA
12:47629238-47629238 A>T	0.0	4180	BREAST	-	-	-	-	PCED1B	uc001rpq.3,p.Y131F|ENST00000432328,p.Y131F|NM_001281429,p.Y131F|ENST00000546455,p.Y131F|ENST00000549500,p.Y131F|uc001rpn.3,p.Y131F|NM_138371,p.Y131F|uc021qxi.1,p.Y131F|ENST00000549630,p.Y131F	protein_coding	uc021qxi.1	nonsynonymous SNV	exon1	c.A392T	p.Y131F	VIMNSCLWDISRYGPNSWRSYLENL	VIMNSCLWDISRFGPNSWRSYLENL	7.0	10.0	unscreened	-	4180_12:47629238-47629238 A>T_VIMNSCLWDISRFGPNSWRSYLENL
X:136113284-136113284 T>C	0.0	4180	BREAST	-	-	ID=COSM355750;OCCURENCE=1(lung)	-	GPR101	NM_054021,p.M184V|ENST00000298110,p.M184V|uc011mwh.2,p.M184V	protein_coding	uc011mwh.2	nonsynonymous SNV	exon1	c.A550G	p.M184V	QAAFDERNALCSMIWGASPSYTILS	QAAFDERNALCSVIWGASPSYTILS	1.0	2.0	unscreened	-	4180_X:136113284-136113284 T>C_QAAFDERNALCSVIWGASPSYTILS
19:52216897-52216897 G>A	0.0	4180	BREAST	-	-	-	-	HAS1	NM_001523,p.A507V|uc002pxp.1,p.A506V|ENST00000222115,p.A507V|uc002pxo.1,p.A507V|ENST00000540069,p.A506V|uc002pxn.1,p.A514V|ENST00000601714,p.A514V|NM_001297436,p.A506V|uc010epc.1,p.A107V	protein_coding	uc010epc.1	nonsynonymous SNV	exon2	c.C320T	p.A107V	KLAANYVPLLPLALWALLLLGGLVR	KLAANYVPLLPLVLWALLLLGGLVR	1.0	1.0	unscreened	-	4180_19:52216897-52216897 G>A_KLAANYVPLLPLVLWALLLLGGLVR
19:35551631-35551631 G>A	0.0	4180	BREAST	-	-	ID=COSM1254384;OCCURENCE=1(pancreas),1(oesophagus)	-	HPN	uc010xsh.1,p.G210R|uc002nxr.2,p.G241R|NM_002151,p.G241R|uc002nxq.2,p.G241R|ENST00000262626,p.G241R|ENST00000597419,p.G83R|uc002nxt.1,p.G125R|NM_182983,p.G241R|ENST00000392226,p.G241R	retained_intron, protein_coding, processed_transcript	uc010xsh.1	nonsynonymous SNV	exon8	c.G628A	p.G210R	GLQLGVQAVVYHGGYLPFRDPNSEE	GLQLGVQAVVYHRGYLPFRDPNSEE	4.0	9.0	unscreened	-	4180_19:35551631-35551631 G>A_GLQLGVQAVVYHRGYLPFRDPNSEE
X:78616852-78616852 C>T	0.0	4180	BREAST	-	-	-	-	ITM2A	ENST00000373298,p.R226H|uc011mqr.2,p.R182H|NM_004867,p.R226H|ENST00000434584,p.R182H|uc004edh.3,p.R226H|NM_001171581,p.R182H	protein_coding, processed_transcript	uc011mqr.2	nonsynonymous SNV	exon4	c.G545A	p.R182H	FIYQLCNNRKSFRLRRRDLLLGFNK	FIYQLCNNRKSFHLRRRDLLLGFNK	8.0	5.0	unscreened	-	4180_X:78616852-78616852 C>T_FIYQLCNNRKSFHLRRRDLLLGFNK
4:47163420-47163420 A>G	0.0	4180	BREAST	-	-	-	-	GABRB1	uc003gxh.3,p.H132R|uc011bze.2,p.H62R|ENST00000513567,p.H99R|ENST00000538619,p.H62R|NM_000812,p.H132R|ENST00000295454,p.H132R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bze.2	nonsynonymous SNV	exon3	c.A185G	p.H62R	DTYFLNDKKSFVHGVTVKNRMIRLH	DTYFLNDKKSFVRGVTVKNRMIRLH	4.0	9.0	unscreened	-	4180_4:47163420-47163420 A>G_DTYFLNDKKSFVRGVTVKNRMIRLH
15:52058679-52058679 A>G	1.0	4180	BREAST	-	-	-	-	TMOD2	uc002abk.3,p.N14S|uc002abl.4,p.N14S|NM_001142885,p.N14S|ENST00000249700,p.N14S|NM_014548,p.N14S|ENST00000435126,p.N14S	retained_intron, protein_coding, nonsense_mediated_decay	uc002abl.4	nonsynonymous SNV	exon2	c.A41G	p.N14S	ALPFQKELEKYKNIDEDELLGKLSE	ALPFQKELEKYKSIDEDELLGKLSE	7.0	9.0	unscreened	-	4180_15:52058679-52058679 A>G_ALPFQKELEKYKSIDEDELLGKLSE
6:16327865-16327867 TGC>-	1.0	4180	BREAST	-	-	-	-	ATXN1	uc010jpi.3,p.225_226del|uc003nbt.3,p.225_226del|ENST00000244769,p.225_226del|NM_001128164,p.225_226del|ENST00000436367,p.225_226del|NM_000332,p.225_226del	protein_coding, processed_transcript	uc010jpi.3	nonframeshift deletion	exon7	c.675_677del	p.225_226del	QQQQQQQQQQQQQHLSRAPGLITPG	QQQQQQQQQQQQHLSRAPGLITPGS	7.0	6.0	unscreened	-	4180_6:16327865-16327867 TGC>-_QQQQQQQQQQQQHLSRAPGLITPGS
5:172578611-172578611 T>-	0.0	4180	BREAST	-	-	ID=COSM1436057;OCCURENCE=2(large_intestine),2(NS)	-	BNIP1	uc003mci.4,p.F74fs|NM_013980,p.F74fs|ENST00000231668,p.F74fs|uc003mck.4,p.F74fs|NM_013979,p.F74fs|ENST00000352523,p.F74fs	protein_coding	uc003mck.4	frameshift deletion	exon3	c.220delT	p.F74fs	LYQRAFIWTASTFFFKLTYSLTDFS	LYQRAFIWTASTFFLS	8.0	7.0	unscreened	-	4180_5:172578611-172578611 T>-_LYQRAFIWTASTFFLS
1:75683628-75683628 A>G	0.0	4180	BREAST	-	-	-	-	SLC44A5	uc001dgr.2,p.L474P|uc001dgs.2,p.L474P|uc010oqz.1,p.L555P|uc001dgu.3,p.L516P|NM_001130058,p.L516P|ENST00000535611,p.L386P|ENST00000370859,p.L516P|ENST00000370855,p.L516P|uc010ora.2,p.L510P|uc010orb.2,p.L386P|NM_152697,p.L516P|uc001dgt.2,p.L516P	protein_coding, processed_transcript	uc010orb.2	nonsynonymous SNV	exon16	c.T1157C	p.L386P	AFGRAIRYHTGSLAFGSLIIALIQM	AFGRAIRYHTGSPAFGSLIIALIQM	6.0	2.0	unscreened	-	4180_1:75683628-75683628 A>G_AFGRAIRYHTGSPAFGSLIIALIQM
19:58773703-58773703 T>G	0.0	4180	BREAST	-	-	-	-	ZNF544	uc010euo.3,p.D577E|ENST00000415203,p.D549E|uc010yhy.2,p.D549E|NM_014480,p.D577E|ENST00000600044,p.D549E|uc002qru.4,p.D435E|ENST00000600220,p.D549E|ENST00000599953,p.D435E|ENST00000269829,p.D577E|uc010yhx.2,p.D549E|uc002qrt.4,p.D435E|ENST00000596652,p.D577E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yhy.2	nonsynonymous SNV	exon6	c.T1647G	p.D549E	IHQRIHTGEKPYDCTHCGKSFSQSY	IHQRIHTGEKPYECTHCGKSFSQSY	9.0	1.0	unscreened	-	4180_19:58773703-58773703 T>G_IHQRIHTGEKPYECTHCGKSFSQSY
12:2936425-2936425 G>A	0.0	4180	BREAST	0.0023	-	-	-	NRIP2	NM_031474,p.A265V|uc010sed.1,p.A265V|uc001qlc.3,p.A265V|ENST00000337508,p.A265V	protein_coding	uc010sed.1	nonsynonymous SNV	exon6	c.C794T	p.A265V	CIDLEHGVLRLKAPFSELPFLPLYQ	CIDLEHGVLRLKVPFSELPFLPLYQ	1.0	8.0	unscreened	-	4180_12:2936425-2936425 G>A_CIDLEHGVLRLKVPFSELPFLPLYQ
9:139904059-139904059 C>T	0.0	4180	BREAST	-	-	-	-	ABCA2	uc004ckl.1,p.R2153H|uc022bpz.1,p.R2223H|NM_212533,p.R2253H|ENST00000341511,p.R2223H|ENST00000265662,p.R2223H|NM_001606,p.R2223H|ENST00000371605,p.R2222H|uc011mem.1,p.R2222H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022bpz.1	nonsynonymous SNV	exon44	c.G6668A	p.R2223H	DEPTTGMDPKARRFLWNLILDLIKT	DEPTTGMDPKARHFLWNLILDLIKT	6.0	2.0	unscreened	-	4180_9:139904059-139904059 C>T_DEPTTGMDPKARHFLWNLILDLIKT
9:131285931-131285931 C>G	0.0	4180	BREAST	-	-	-	-	GLE1	ENST00000372770,p.R235G|uc004bvj.3,p.R235G|NM_001499,p.R235G|uc004bvi.3,p.R235G|ENST00000309971,p.R235G|NM_001003722,p.R235G	protein_coding, processed_transcript	uc004bvj.3	nonsynonymous SNV	exon6	c.C703G	p.R235G	AEQQRVKQAEQERLRKEEGQIRLRA	AEQQRVKQAEQEGLRKEEGQIRLRA	9.0	2.0	unscreened	-	4180_9:131285931-131285931 C>G_AEQQRVKQAEQEGLRKEEGQIRLRA
6:30652589-30652589 G>-	1.0	4180	BREAST	-	-	-	-	PPP1R18	NM_133471,p.L403fs|ENST00000274853,p.L403fs|uc003nra.3,p.L403fs|ENST00000399199,p.L403fs|uc003nrb.4,p.L403fs|NM_001134870,p.L403fs	protein_coding, processed_transcript	uc003nrb.4	frameshift deletion	exon1	c.1207delC	p.L403fs	RALQNCCSVPSPLPPEDAGTGGLRQ	RALQNCCSVPSPSHQRTLGLEA	9.0	9.0	unscreened	-	4180_6:30652589-30652589 G>-_RALQNCCSVPSPSHQRTLGLEA
19:14952064-14952064 C>T	0.0	4180	BREAST	-	-	-	-	OR7A10	NM_001005190,p.G209D|ENST00000248058,p.G209D|uc002mzx.1,p.G209D	protein_coding	uc002mzx.1	nonsynonymous SNV	exon1	c.G626A	p.G209D	IVMYFAVALLGGGPLTGILYSYSKI	IVMYFAVALLGGDPLTGILYSYSKI	1.0	1.0	unscreened	-	4180_19:14952064-14952064 C>T_IVMYFAVALLGGDPLTGILYSYSKI
12:124270359-124270359 C>T	0.0	4180	BREAST	-	-	-	-	DNAH10	ENST00000409039,p.R372W|uc001uft.4,p.R372W|NM_207437,p.R372W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uft.4	nonsynonymous SNV	exon9	c.C1114T	p.R372W	VLDTIPAMMSALRMVWIISRHYNKD	VLDTIPAMMSALWMVWIISRHYNKD	3.0	10.0	unscreened	-	4180_12:124270359-124270359 C>T_VLDTIPAMMSALWMVWIISRHYNKD
1:15863154-15863154 A>-	0.0	4180	BREAST	-	-	-	-	DNAJC16	NM_015291,p.E140fs|uc001awr.1,p.E140fs|uc001aws.3,p.E140fs|ENST00000375838,p.E140fs|ENST00000475133,p.E140fs|ENST00000375847,p.E140fs|ENST00000375849,p.E140fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc001aws.3	frameshift deletion	exon4	c.419delA	p.E140fs	FPFNSERRDSIDEKYLLHFSHYVNE	FPFNSERRDSIDESIYCTFHIM	6.0	6.0	unscreened	-	4180_1:15863154-15863154 A>-_FPFNSERRDSIDESIYCTFHIM
12:6657974-6657974 C>-	0.0	4180	BREAST	-	-	ID=COSM1363712;OCCURENCE=3(large_intestine)	-	IFFO1	NM_001039670,p.G366fs|ENST00000465801,p.G59fs|ENST00000356896,p.G366fs|uc001qpf.2,p.G366fs|NM_080730,p.G366fs|ENST00000436152,p.G59fs|ENST00000336604,p.G366fs|uc001qpc.2,p.G366fs	retained_intron, protein_coding, nonsense_mediated_decay	uc001qpf.2	frameshift deletion	exon6	c.1098delG	p.G366fs	QMFQKKLVPSMGGRKRERKAAVEED	QMFQKKLVPSMGGGSGSARLPSRRTPPCRRVRGPASPMGMRRRAQPSASTRRCSACSTS	6.0	7.0	unscreened	-	4180_12:6657974-6657974 C>-_QMFQKKLVPSMGGGSGSARLPSRRTPPCRRVRGPASPMGMRRRAQPSASTRRCSACSTS
12:6657974-6657974 C>-	0.0	4180	BREAST	-	-	ID=COSM1363712;OCCURENCE=3(large_intestine)	-	IFFO1	ENST00000396840,p.G363fs|uc001qpb.1,p.G40fs	retained_intron, protein_coding, nonsense_mediated_decay	uc001qpb.1	frameshift deletion	exon2	c.120delG	p.G40fs	DMIQMFQVPSMGGRKRERKAAVEED	DMIQMFQVPSMGGGSGSARLPSRRTPPCRRVRGPASPMGMRRRAQPSASTRRCSACSTS	6.0	7.0	unscreened	-	4180_12:6657974-6657974 C>-_DMIQMFQVPSMGGGSGSARLPSRRTPPCRRVRGPASPMGMRRRAQPSASTRRCSACSTS
12:6657974-6657974 C>-	0.0	4180	BREAST	-	-	ID=COSM1363712;OCCURENCE=3(large_intestine)	-	IFFO1	uc010sfe.2,p.G374fs|NM_001193457,p.G374fs	retained_intron, protein_coding, nonsense_mediated_decay	uc010sfe.2	frameshift deletion	exon6	c.1122delG	p.G374fs	LHLSPIKVPSMGGRKRERKAAVEED	LHLSPIKVPSMGGGSGSARLPSRRTPPCRRVRGPASPMGMRRRAQPSASTRRCSACSTS	6.0	7.0	unscreened	-	4180_12:6657974-6657974 C>-_LHLSPIKVPSMGGGSGSARLPSRRTPPCRRVRGPASPMGMRRRAQPSASTRRCSACSTS
16:2814323-2814323 C>T	1.0	4180	BREAST	-	-	-	-	SRRM2	NM_016333,p.T1265I|uc002crj.1,p.T1169I|uc010bsu.1,p.T1169I|uc002crl.1,p.T1265I|ENST00000301740,p.T1265I|uc002crk.3,p.T1265I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bsu.1	nonsynonymous SNV	exon10	c.C3506T	p.T1169I	LSHLSSELKEMSTSNFESSPEVEER	LSHLSSELKEMSISNFESSPEVEER	10.0	4.0	unscreened	-	4180_16:2814323-2814323 C>T_LSHLSSELKEMSISNFESSPEVEER
19:15288710-15288710 G>-	0.0	4180	BREAST	-	-	-	-	NOTCH3	uc002nan.3,p.P1343fs|NM_000435,p.P1343fs|uc002nao.1,p.P1291fs|ENST00000263388,p.P1343fs	retained_intron, protein_coding, nonsense_mediated_decay	uc002nao.1	frameshift deletion	exon23	c.3873delC	p.P1291fs	PPGASNASCAAAPCLHGGSCRPAPL	PPGASNASCAAAPVSTGAPAAPRRSRPSSAALARRAGPGRAARRPPRHPRSRRSRGARAPPARPSAGTSAATASATAQAAAGTAATAR	7.0	8.0	unscreened	-	4180_19:15288710-15288710 G>-_PPGASNASCAAAPVSTGAPAAPRRSRPSSAALARRAGPGRAARRPPRHPRSRRSRGARAPPARPSAGTSAATASATAQAAAGTAATAR
8:145689659-145689659 C>-	1.0	4180	BREAST	-	-	ID=COSM1455657;OCCURENCE=9(large_intestine)	-	CYHR1	ENST00000403000,p.A144fs|uc003zcx.2,p.A144fs|uc003zcw.2,p.A144fs|ENST00000306145,p.A144fs|uc003zcy.2,p.A144fs|NM_032687,p.A144fs|ENST00000424149,p.A144fs|NM_001129888,p.A144fs	retained_intron, protein_coding	uc003zcy.2	frameshift deletion	exon3	c.430delG	p.A144fs	VFTANTYGMWGGAMLGVAGLLSRLE	VFTANTYGMWGGRCWVWQAS	10.0	7.0	unscreened	-	4180_8:145689659-145689659 C>-_VFTANTYGMWGGRCWVWQAS
8:141856765-141856765 A>G	1.0	4180	BREAST	-	-	-	-	PTK2	uc003yvu.3,p.Y155H|uc003yvt.3,p.Y177H|uc011ljr.2,p.Y155H|uc003yvs.3,p.Y155H|NM_001199649,p.Y155H|ENST00000517887,p.Y199H|uc003yvv.3,p.Y42H|ENST00000395218,p.Y155H|NM_005607,p.Y177H|ENST00000535192,p.Y155H|NM_153831,p.Y155H|ENST00000522684,p.Y155H|uc003yvr.3,p.Y54H|ENST00000521059,p.Y155H|ENST00000340930,p.Y155H|ENST00000519419,p.Y199H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ljr.2	nonsynonymous SNV	exon6	c.T463C	p.Y155H	TLNFFYQQVKSDYMLEIADQVDQEI	TLNFFYQQVKSDHMLEIADQVDQEI	10.0	6.0	unscreened	-	4180_8:141856765-141856765 A>G_TLNFFYQQVKSDHMLEIADQVDQEI
1:227946861-227946862 AG>-	0.0	4180	BREAST	-	-	-	-	SNAP47	uc001hre.3,p.T24fs|uc001hrd.3,p.T266fs|uc001hrf.2,p.T266fs|ENST00000366760,p.T24fs|NM_053052,p.T266fs|ENST00000315781,p.T266fs|ENST00000366759,p.T266fs|uc001hra.2,p.T24fs	protein_coding, processed_transcript	uc001hrf.2	frameshift deletion	exon3	c.798_799del	p.T266fs	ILIKIPAVISHRTESHVKPGRLTVL	ILIKIPAVISHRTVSR	8.0	4.0	unscreened	-	4180_1:227946861-227946862 AG>-_ILIKIPAVISHRTVSR
19:8651552-8651552 G>-	0.0	4180	BREAST	-	-	-	-	ADAMTS10	uc002mki.1,p.Q252fs|ENST00000597188,p.Q765fs|ENST00000595838,p.Q252fs|uc002mkk.1,p.Q397fs|ENST00000270328,p.Q765fs|uc002mkj.1,p.Q765fs|NM_030957,p.Q765fs|NM_001282352,p.Q252fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkk.1	frameshift deletion	exon19	c.1189delC	p.Q397fs	ESLLLEGLPGTPQPHRLPLAGTTFQ	ESLLLEGLPGTPSPTVCL	5.0	9.0	unscreened	-	4180_19:8651552-8651552 G>-_ESLLLEGLPGTPSPTVCL
6:131958594-131958594 G>A	0.0	4180	BREAST	-	-	ID=COSM274970;OCCURENCE=1(large_intestine)	-	ENPP3	ENST00000423831,p.A24T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000423831	nonsynonymous SNV	exon1	c.G70A	p.A24T	PVKKNTLKKYKIACITGSLSFGISP	PVKKNTLKKYKITCITGSLSFGISP	2.0	10.0	unscreened	-	4180_6:131958594-131958594 G>A_PVKKNTLKKYKITCITGSLSFGISP
16:3335074-3335074 C>T	0.0	4180	BREAST	-	-	-	-	ZNF263	NM_005741,p.R135W|uc002cuq.3,p.R135W|ENST00000219069,p.R135W	protein_coding, processed_transcript	uc002cuq.3	nonsynonymous SNV	exon2	c.C403T	p.R135W	LGRLRQQVTNHGRGTEVLLEEPLPL	LGRLRQQVTNHGWGTEVLLEEPLPL	8.0	1.0	unscreened	-	4180_16:3335074-3335074 C>T_LGRLRQQVTNHGWGTEVLLEEPLPL
3:124732631-124732631 A>G	0.0	4180	BREAST	-	-	-	-	HEG1	ENST00000311127,p.Y598H|uc011bke.2,p.Y698H|NM_020733,p.Y598H|uc003ehs.4,p.Y598H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bke.2	nonsynonymous SNV	exon7	c.T2092C	p.Y698H	SYIKISNSSHSEYSSFFHAQTERSN	SYIKISNSSHSEHSSFFHAQTERSN	6.0	2.0	unscreened	-	4180_3:124732631-124732631 A>G_SYIKISNSSHSEHSSFFHAQTERSN
11:1780830-1780830 G>-	0.0	4180	BREAST	-	-	ID=COSM1352940;OCCURENCE=1(large_intestine)	-	CTSD	uc001luc.2,p.Q90fs|ENST00000433655,p.Q90fs|ENST00000236671,p.Q90fs|ENST00000438213,p.Q75fs|NM_001909,p.Q90fs|ENST00000367196,p.Q55fs	retained_intron, protein_coding, nonsense_mediated_decay	uc001luc.2	frameshift deletion	exon3	c.268delC	p.Q90fs	QYYGEIGIGTPPQCFTVVFDTGSSN	QYYGEIGIGTPPSASQSSSTRAPPTCGSPPSTANCWTSLAGSTTSTTATSPAPT	10.0	5.0	unscreened	-	4180_11:1780830-1780830 G>-_QYYGEIGIGTPPSASQSSSTRAPPTCGSPPSTANCWTSLAGSTTSTTATSPAPT
20:3766799-3766799 A>G	0.0	4180	BREAST	-	-	-	-	CENPB	ENST00000379751,p.L111P|uc002wjk.3,p.L111P|NM_001810,p.L111P	protein_coding	uc002wjk.3	nonsynonymous SNV	exon1	c.T332C	p.L111P	ILKEKALRIAEELGMDDFTASNGWL	ILKEKALRIAEEPGMDDFTASNGWL	9.0	1.0	unscreened	-	4180_20:3766799-3766799 A>G_ILKEKALRIAEEPGMDDFTASNGWL
5:137089637-137089637 A>G	0.0	4180	BREAST	-	-	-	-	HNRNPA0	uc003lbt.3,p.V40A|ENST00000314940,p.V40A|NM_006805,p.V40A	protein_coding	uc003lbt.3	nonsynonymous SNV	exon1	c.T119C	p.V40A	EAFGTLTDCVVVVNPQTKRSRCFGF	EAFGTLTDCVVVANPQTKRSRCFGF	9.0	2.0	unscreened	-	4180_5:137089637-137089637 A>G_EAFGTLTDCVVVANPQTKRSRCFGF
4:155490876-155490876 T>C	0.0	4180	BREAST	-	-	-	-	FGB	NM_001184741,p.L331P|ENST00000302068,p.L390P|ENST00000509493,p.L171P|NM_005141,p.L390P|uc010ipv.3,p.L331P|uc003ioa.4,p.L390P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ipv.3	nonsynonymous SNV	exon7	c.T992C	p.L331P	TAGNALMDGASQLMGENRTMTIHNG	TAGNALMDGASQPMGENRTMTIHNG	1.0	1.0	unscreened	-	4180_4:155490876-155490876 T>C_TAGNALMDGASQPMGENRTMTIHNG
22:46505688-46505688 G>A	0.0	4180	BREAST	0.0005	-	-	-	MIRLET7BHG	uc003bgu.2,p.R94H|ENST00000360737,p.R94H	protein_coding, nonsense_mediated_decay	uc003bgu.2	nonsynonymous SNV	exon5	c.G281A	p.R94H	PASSTPWGQKLLRWPLLSPSHRASW	PASSTPWGQKLLHWPLLSPSHRASW	6.0	5.0	unscreened	-	4180_22:46505688-46505688 G>A_PASSTPWGQKLLHWPLLSPSHRASW
4:89199408-89199408 G>A	0.0	4180	BREAST	-	-	-	-	PPM1K	ENST00000295908,p.R110W|ENST00000506423,p.R110W|uc003hrm.5,p.R110W|NM_152542,p.R110W|uc010ikp.2,p.R110W|uc003hrn.4,p.R110W|ENST00000315194,p.R110W	retained_intron, protein_coding, processed_transcript	uc010ikp.2	nonsynonymous SNV	exon2	c.C328T	p.R110W	ASQIGKRKENEDRFDFAQLTDEVLY	ASQIGKRKENEDWFDFAQLTDEVLY	7.0	1.0	unscreened	-	4180_4:89199408-89199408 G>A_ASQIGKRKENEDWFDFAQLTDEVLY
15:49148154-49148154 T>C	0.0	4180	BREAST	-	-	-	-	SHC4	NM_203349,p.Y413C|uc001zxb.1,p.Y413C|ENST00000332408,p.Y413C|ENST00000537958,p.Y127C|uc010uey.1,p.Y170C|uc010uez.1,p.Y127C|ENST00000396535,p.Y170C	retained_intron, protein_coding, nonsense_mediated_decay	uc010uez.1	nonsynonymous SNV	exon6	c.A380G	p.Y127C	MAYCPIQCEKLCYLPGNSKCSSVYE	MAYCPIQCEKLCCLPGNSKCSSVYE	5.0	9.0	unscreened	-	4180_15:49148154-49148154 T>C_MAYCPIQCEKLCCLPGNSKCSSVYE
7:106826299-106826299 G>A	0.0	4180	BREAST	0.0005	-	-	-	HBP1	uc003vdy.3,p.R151H|ENST00000222574,p.R151H|uc003vdz.3,p.R151H|NM_012257,p.R151H|uc003vea.3,p.R151H|NM_001244262,p.R161H|ENST00000498408,p.R143H|uc003veb.1,p.R151H|ENST00000468410,p.R151H|uc011klv.2,p.R161H|ENST00000485846,p.R151H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011klv.2	nonsynonymous SNV	exon4	c.G482A	p.R161H	IIATSKSLHSYARPPPVSSSSKSEP	IIATSKSLHSYAHPPPVSSSSKSEP	9.0	1.0	unscreened	-	4180_7:106826299-106826299 G>A_IIATSKSLHSYAHPPPVSSSSKSEP
5:138729675-138729675 T>C	0.0	4180	BREAST	-	-	-	-	PROB1	NM_001161546,p.T366A|uc011czc.1,p.T366A|ENST00000434752,p.T366A	protein_coding	uc011czc.1	nonsynonymous SNV	exon1	c.A1096G	p.T366A	RKTRFPREAPDRTVQRARSPPFECR	RKTRFPREAPDRAVQRARSPPFECR	5.0	10.0	unscreened	-	4180_5:138729675-138729675 T>C_RKTRFPREAPDRAVQRARSPPFECR
12:113711067-113711067 A>G	0.0	4180	BREAST	-	-	-	-	TPCN1	uc001tuw.3,p.S272G|NM_001143819,p.S344G|uc001tux.3,p.S344G|ENST00000335509,p.S272G|ENST00000541517,p.S344G|ENST00000392569,p.S204G|ENST00000550785,p.S344G|NM_017901,p.S272G|NM_001301214,p.S204G|uc010syt.1,p.S204G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010syt.1	nonsynonymous SNV	exon8	c.A610G	p.S204G	DPYFSTLENSIVSLFVLLTTANFPD	DPYFSTLENSIVGLFVLLTTANFPD	6.0	1.0	unscreened	-	4180_12:113711067-113711067 A>G_DPYFSTLENSIVGLFVLLTTANFPD
19:40520761-40520761 C>A	0.0	4180	BREAST	-	-	-	-	ZNF546	NM_001297763,p.N502K|uc002oms.2,p.N528K|NM_178544,p.N528K|uc002omt.2,p.N502K|ENST00000347077,p.N528K|ENST00000600094,p.N502K	retained_intron, protein_coding, processed_transcript	uc002omt.2	nonsynonymous SNV	exon7	c.C1506A	p.N502K	YRIHTGEKPYICNECGKAFRLQGEL	YRIHTGEKPYICKECGKAFRLQGEL	5.0	8.0	unscreened	-	4180_19:40520761-40520761 C>A_YRIHTGEKPYICKECGKAFRLQGEL
3:172224303-172224303 A>-	1.0	4180	BREAST	-	-	-	-	TNFSF10	NM_003810,p.F275fs|ENST00000241261,p.F275fs|uc003fid.3,p.F275fs	retained_intron, protein_coding, nonsense_mediated_decay	uc003fid.3	frameshift deletion	exon5	c.825delT	p.F275fs	EHLIDMDHEASFFGAFLVG	EHLIDMDHEASFLGPF	10.0	5.0	-	-	4180_3:172224303-172224303 A>-_EHLIDMDHEASFLGPF
9:139904059-139904059 C>T	0.0	4180	BREAST	-	-	-	-	ABCA2	uc004ckm.1,p.R2252H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004ckm.1	nonsynonymous SNV	exon44	c.G6755A	p.R2252H	LDEPTTGMDPKARRFLWNLILDLIK	LDEPTTGMDPKAHRFLWNLILDLIK	6.0	2.0	unscreened	-	4180_9:139904059-139904059 C>T_LDEPTTGMDPKAHRFLWNLILDLIK
19:30505898-30505898 A>C	0.0	4180	BREAST	-	-	-	-	URI1	uc002nst.3,p.E434D|uc002nsr.3,p.E510D|ENST00000392271,p.E434D|ENST00000312051,p.E470D|uc002nss.3,p.E470D|NM_003796,p.E510D|ENST00000542441,p.E510D	protein_coding, processed_transcript, nonsense_mediated_decay	uc002nst.3	nonsynonymous SNV	exon9	c.A1302C	p.E434D	AHPALPTIPERKEVLLEASEETGKR	AHPALPTIPERKDVLLEASEETGKR	9.0	1.0	unscreened	-	4180_19:30505898-30505898 A>C_AHPALPTIPERKDVLLEASEETGKR
6:145156947-145156947 T>C	1.0	4180	BREAST	-	-	-	-	UTRN	ENST00000367526,p.C788R|ENST00000367545,p.C3233R|NM_007124,p.C3233R|uc003qkt.3,p.C3233R|ENST00000455022,p.C145R	protein_coding, processed_transcript	uc003qkt.3	nonsynonymous SNV	exon69	c.T9697C	p.C3233R	SVEDEHALIQQYCQTLGGESPVSQP	SVEDEHALIQQYRQTLGGESPVSQP	8.0	8.0	unscreened	-	4180_6:145156947-145156947 T>C_SVEDEHALIQQYRQTLGGESPVSQP
6:15496635-15496635 ->G	0.0	4180	BREAST	-	-	-	-	JARID2	NM_001267040,p.L221fs|ENST00000397311,p.L221fs|NM_004973,p.L393fs|ENST00000541660,p.L355fs|uc011diw.1,p.L355fs|uc003nbj.4,p.L393fs|ENST00000341776,p.L393fs|uc011div.3,p.L221fs|uc011diu.1,p.L257fs	protein_coding, processed_transcript	uc011diw.1	frameshift insertion	exon6	c.1066dupG	p.L355fs	SSNAKTRKQVLSLGGASKSTGPAVN	SSNAKTRKQVLSLGGGVQVHWARRQWPQGQWQVEPKVMH	7.0	8.0	unscreened	-	4180_6:15496635-15496635 ->G_SSNAKTRKQVLSLGGGVQVHWARRQWPQGQWQVEPKVMH
3:62358314-62358314 T>C	0.0	4180	BREAST	-	-	-	-	FEZF2	NM_018008,p.Q77R|ENST00000283268,p.Q77R|uc003dli.2,p.Q77R|ENST00000475839,p.Q77R|ENST00000486811,p.Q77R|uc003dlh.2,p.Q77R	protein_coding	uc003dli.2	nonsynonymous SNV	exon2	c.A230G	p.Q77R	NLCSPLPCMIPLQPLGYEVPSKTLL	NLCSPLPCMIPLRPLGYEVPSKTLL	1.0	9.0	unscreened	-	4180_3:62358314-62358314 T>C_NLCSPLPCMIPLRPLGYEVPSKTLL
X:105937533-105937533 A>G	0.0	4180	BREAST	-	-	-	-	RNF128	ENST00000418562,p.T74A|uc004emk.3,p.T101A|ENST00000324342,p.T101A|NM_024539,p.T101A	protein_coding	uc004emk.3	nonsynonymous SNV	exon1	c.A301G	p.T101A	KPWIALIERGNCTFSEKIQTAGRRN	KPWIALIERGNCAFSEKIQTAGRRN	5.0	1.0	unscreened	-	4180_X:105937533-105937533 A>G_KPWIALIERGNCAFSEKIQTAGRRN
1:205070822-205070822 T>-	0.0	4180	BREAST	-	-	-	-	RBBP5	uc001hbv.2,p.T180fs|NM_001193272,p.T180fs|ENST00000367164,p.T180fs|uc010pre.2,p.T53fs|uc010prd.2,p.T215fs|ENST00000264515,p.T180fs|uc001hbu.2,p.T180fs|NM_005057,p.T180fs|NM_001193273,p.T53fs	protein_coding, processed_transcript	uc010pre.2	frameshift deletion	exon6	c.157delA	p.T53fs	TGNAKGKILVLKTDSQDLVASFRVT	TGNAKGKILVLKQILRILLLPSE	7.0	7.0	unscreened	-	4180_1:205070822-205070822 T>-_TGNAKGKILVLKQILRILLLPSE
6:109850198-109850201 AAAC>-	0.0	4180	BREAST	-	-	-	-	AK9	uc011eat.1,p.V295fs|ENST00000355283,p.V295fs	retained_intron, protein_coding	uc011eat.1	frameshift deletion	exon5	c.883_886del	p.V295fs	ERDKKRREVSSFVFFFKTGSHSVAQ	ERDKKRREVSSFFFSKQGLTLLPRAGYSGTIIAHCNLELLGSRDPPTSASQSA	5.0	7.0	unscreened	-	4180_6:109850198-109850201 AAAC>-_ERDKKRREVSSFFFSKQGLTLLPRAGYSGTIIAHCNLELLGSRDPPTSASQSA
18:12836873-12836873 T>C	1.0	4180	BREAST	-	-	-	-	PTPN2	ENST00000591497,p.K31E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000591497	nonsynonymous SNV	exon3	c.A91G	p.K31E	CRMQEIDDHSRVKLQNAENDYINAS	CRMQEIDDHSRVELQNAENDYINAS	9.0	9.0	-	-	4180_18:12836873-12836873 T>C_CRMQEIDDHSRVELQNAENDYINAS
8:9605598-9605598 C>T	1.0	4180	BREAST	-	-	-	-	TNKS	NM_003747,p.A903V|ENST00000310430,p.A903V|ENST00000518281,p.A666V|uc003wss.3,p.A903V|uc011kww.2,p.A666V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kww.2	nonsynonymous SNV	exon18	c.C1997T	p.A666V	KYNTCVNATDKWAFTPLHEAAQKGR	KYNTCVNATDKWVFTPLHEAAQKGR	7.0	6.0	unscreened	-	4180_8:9605598-9605598 C>T_KYNTCVNATDKWVFTPLHEAAQKGR
10:101646356-101646356 ->G	0.0	4180	BREAST	-	-	ID=COSM1718670,COSM1718669;OCCURENCE=2(NS)	-	DNMBP	ENST00000543621,p.L353fs|ENST00000342239,p.L1131fs|ENST00000540316,p.L43fs|ENST00000324109,p.L1107fs|uc001kqg.2,p.L395fs|NM_015221,p.L1107fs|uc010qpl.1,p.L43fs|uc001kqh.2,p.L739fs|uc001kqj.2,p.L1107fs	protein_coding, processed_transcript	uc010qpl.1	frameshift insertion	exon5	c.126dupC	p.L43fs	FKERTERLVISPLNQLLSMFTGPHK	FKERTERLVISPLKSVTEHVYRAP	4.0	10.0	unscreened	-	4180_10:101646356-101646356 ->G_FKERTERLVISPLKSVTEHVYRAP
19:7682507-7682507 C>G	0.0	4180	BREAST	-	-	-	-	CAMSAP3	ENST00000446248,p.A1162G|NM_001080429,p.A1162G|NM_020902,p.A1135G|uc002mgw.3,p.A265G|uc002mgu.4,p.A1162G|uc002mgv.4,p.A1135G|ENST00000160298,p.A1135G	retained_intron, protein_coding	uc002mgw.3	nonsynonymous SNV	exon5	c.C794G	p.A265G	FIIHNALSHCCLAGKVNEPQKNRIL	FIIHNALSHCCLGGKVNEPQKNRIL	8.0	4.0	unscreened	-	4180_19:7682507-7682507 C>G_FIIHNALSHCCLGGKVNEPQKNRIL
19:36430602-36430602 G>A	0.0	4180	BREAST	-	-	-	-	LRFN3	ENST00000246529,p.R92Q|ENST00000588831,p.R92Q|uc002oco.3,p.R92Q|NM_024509,p.R92Q	protein_coding, processed_transcript	uc002oco.3	nonsynonymous SNV	exon2	c.G275A	p.R92Q	ANMTGLLHLSLSRNTIRHVAAGAFA	ANMTGLLHLSLSQNTIRHVAAGAFA	8.0	1.0	unscreened	-	4180_19:36430602-36430602 G>A_ANMTGLLHLSLSQNTIRHVAAGAFA
1:241964488-241964488 T>A	0.0	4180	BREAST	-	-	-	-	WDR64	uc001hzg.2,p.S1073T|NM_144625,p.S1073T|ENST00000366552,p.S1073T|ENST00000414635,p.S677T|uc021pli.1,p.S626T|ENST00000437684,p.S906T	protein_coding, processed_transcript, nonsense_mediated_decay	uc021pli.1	nonsynonymous SNV	exon16	c.T1876A	p.S626T	LKKNLVPQINLASSFFPAIPK	LKKNLVPQINLATSFFPAIPK	1.0	8.0	unscreened	-	4180_1:241964488-241964488 T>A_LKKNLVPQINLATSFFPAIPK
14:105412813-105412813 G>T	1.0	4180	BREAST	-	-	-	-	AHNAK2	NM_138420,p.A2992D|uc010axc.1,p.A2992D|uc001ypx.2,p.A2892D|ENST00000333244,p.A2992D	retained_intron, protein_coding	uc010axc.1	nonsynonymous SNV	exon7	c.C8975A	p.A2992D	MPKFKMPSFGVSAPGKSIEVSVDVS	MPKFKMPSFGVSDPGKSIEVSVDVS	8.0	9.0	unscreened	-	4180_14:105412813-105412813 G>T_MPKFKMPSFGVSDPGKSIEVSVDVS
9:139909421-139909421 A>G	0.0	4180	BREAST	-	-	-	-	ABCA2	uc011mem.1,p.S1275P|NM_212533,p.S1306P|ENST00000459850,p.S1305P|ENST00000488535,p.S623P|ENST00000371605,p.S1275P|ENST00000265662,p.S1276P|ENST00000341511,p.S1276P|uc022bpz.1,p.S1276P|uc004ckl.1,p.S1206P|NM_001606,p.S1276P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022bpz.1	nonsynonymous SNV	exon25	c.T3826C	p.S1276P	SCLLVSDTSTELSYILPSEAAKKGA	SCLLVSDTSTELPYILPSEAAKKGA	6.0	9.0	unscreened	-	4180_9:139909421-139909421 A>G_SCLLVSDTSTELPYILPSEAAKKGA
3:49459840-49459840 A>G	0.0	4180	BREAST	-	-	-	-	AMT	ENST00000273588,p.L15P|NM_001164712,p.L15P|uc011bcq.2,p.L15P|NM_000481,p.L15P|uc003cww.3,p.L15P|uc011bco.2,p.L15P|ENST00000399379,p.L15P|ENST00000458307,p.L15P|NM_001164711,p.L15P|ENST00000430521,p.L15P|NM_001164710,p.L15P|ENST00000538581,p.L15P|ENST00000395338,p.L15P|uc003cwx.3,p.L15P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bcq.2	nonsynonymous SNV	exon1	c.T44C	p.L15P	RAVSVVARLGFRLQAFPPALCRPLS	RAVSVVARLGFRPQAFPPALCRPLS	5.0	2.0	unscreened	-	4180_3:49459840-49459840 A>G_RAVSVVARLGFRPQAFPPALCRPLS
6:107419769-107419769 G>A	1.0	4180	BREAST	-	-	ID=COSM298222;OCCURENCE=1(large_intestine)	-	BEND3	ENST00000429433,p.R76W|ENST00000369042,p.R76W|NM_001080450,p.R76W|uc003prs.2,p.R76W	protein_coding	uc003prs.2	nonsynonymous SNV	exon4	c.C226T	p.R76W	GLLDSVPGVKRRRLIPEALLAGMRN	GLLDSVPGVKRRWLIPEALLAGMRN	6.0	5.0	unscreened	-	4180_6:107419769-107419769 G>A_GLLDSVPGVKRRWLIPEALLAGMRN
15:89010494-89010494 A>G	1.0	4180	BREAST	-	-	-	-	MRPL46	ENST00000312475,p.S39P|NM_022163,p.S39P|uc002bmj.2,p.S39P|ENST00000560703,p.S39P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bmj.2	nonsynonymous SNV	exon1	c.T115C	p.S39P	LSSRSLALAAAPSSNGSPWRLLGAL	LSSRSLALAAAPPSNGSPWRLLGAL	9.0	10.0	-	-	4180_15:89010494-89010494 A>G_LSSRSLALAAAPPSNGSPWRLLGAL
9:79252334-79252334 C>T	0.0	4180	BREAST	-	-	-	-	PRUNE2	ENST00000223609,p.R253Q|ENST00000376718,p.R2988Q|uc010mpk.3,p.R2988Q|ENST00000424866,p.R161Q|uc004akj.4,p.R442Q|NM_015225,p.R2988Q|ENST00000428286,p.R2630Q|uc011lsl.2,p.R252Q|ENST00000443509,p.R237Q|uc011lsm.2,p.R253Q|uc011lsk.2,p.R237Q|ENST00000376717,p.R253Q	protein_coding, processed_transcript	uc011lsm.2	nonsynonymous SNV	exon6	c.G758A	p.R253Q	GWMKKCYQMIDRRLRKNLKSFIIVH	GWMKKCYQMIDRQLRKNLKSFIIVH	5.0	7.0	unscreened	-	4180_9:79252334-79252334 C>T_GWMKKCYQMIDRQLRKNLKSFIIVH
9:94486693-94486693 C>T	0.0	4180	BREAST	0.02	-	-	-	ROR2	uc004ari.1,p.G555R|NM_004560,p.G695R|ENST00000375715,p.G555R|ENST00000375708,p.G695R|uc004arj.2,p.G695R	retained_intron, protein_coding, processed_transcript	uc004arj.2	nonsynonymous SNV	exon9	c.G2083A	p.G695R	WEVFSYGLQPYCGYSNQDVVEMIRN	WEVFSYGLQPYCRYSNQDVVEMIRN	5.0	9.0	unscreened	-	4180_9:94486693-94486693 C>T_WEVFSYGLQPYCRYSNQDVVEMIRN
17:45786549-45786549 G>A	0.0	4180	BREAST	-	-	-	-	TBKBP1	NM_014726,p.A484T|ENST00000361722,p.A484T|uc002ilu.3,p.A484T	protein_coding	uc002ilu.3	nonsynonymous SNV	exon8	c.G1450A	p.A484T	AGASPPWLQAEAATLPKPRAYGSEL	AGASPPWLQAEATTLPKPRAYGSEL	5.0	10.0	unscreened	-	4180_17:45786549-45786549 G>A_AGASPPWLQAEATTLPKPRAYGSEL
19:48184019-48184019 C>-	0.0	4180	BREAST	-	-	-	-	GLTSCR1	NM_015711,p.A531fs|uc002phi.4,p.A289fs|uc002phh.4,p.A531fs|ENST00000396720,p.A531fs	retained_intron, protein_coding	uc002phi.4	frameshift deletion	exon1	c.866delC	p.A289fs	NLAGPLSLGPVLAPHSGAHSAHILS	NLAGPLSLGPVLAPTPGPTARTSSPPLPSRWASLRSSRCPCRWRRAACPRRASQRPPGRPPPLSSRGSPCPPAPWPCSTPPTAWCSRPPLPLPPGRPRLSSRCSLPPRRPPRSAHPCPWASSSRRRSSPRRPPPHRPPPRLRPPPPSPALAWRLARRRSSWGSRPLPPPRPSSLRTPCRCSCPRRGASSPSPQRAPTSPCLPRS	4.0	9.0	unscreened	-	4180_19:48184019-48184019 C>-_NLAGPLSLGPVLAPTPGPTARTSSPPLPSRWASLRSSRCPCRWRRAACPRRASQRPPGRPPPLSSRGSPCPPAPWPCSTPPTAWCSRPPLPLPPGRPRLSSRCSLPPRRPPRSAHPCPWASSSRRRSSPRRPPPHRPPPRLRPPPPSPALAWRLARRRSSWGSRPLPPPRPSSLRTPCRCSCPRRGASSPSPQRAPTSPCLPRS
11:57798755-57798755 C>A	0.0	4180	BREAST	-	-	-	-	OR6Q1	NM_001005186,p.L111I|uc010rjz.2,p.L111I|ENST00000302622,p.L111I	protein_coding	uc010rjz.2	nonsynonymous SNV	exon1	c.C331A	p.L111I	ADCLSQLFIFTFLGATECFLLAAMA	ADCLSQLFIFTFIGATECFLLAAMA	1.0	10.0	unscreened	-	4180_11:57798755-57798755 C>A_ADCLSQLFIFTFIGATECFLLAAMA
12:75444698-75444698 G>A	0.0	4180	BREAST	-	-	-	-	KCNC2	NM_001260499,p.R363C|NM_139137,p.R363C|NM_139136,p.R363C|uc031qif.1,p.R363C|NM_153748,p.R363C|NM_001260498,p.R363C|NM_001260497,p.R363C|uc009zry.4,p.R363C|ENST00000350228,p.R363C|uc001sxg.2,p.R363C|ENST00000540018,p.R363C|ENST00000341669,p.R363C|ENST00000550433,p.R363C|uc001sxe.4,p.R363C|ENST00000549446,p.R363C|uc010stw.2,p.R363C|ENST00000393288,p.R363C|uc001sxf.4,p.R363C|ENST00000298972,p.R363C|ENST00000548513,p.R363C	protein_coding, processed_transcript	uc031qif.1	nonsynonymous SNV	exon3	c.C1087T	p.R363C	RFVRILRIFKLTRHFVGLRVLGHTL	RFVRILRIFKLTCHFVGLRVLGHTL	1.0	10.0	unscreened	-	4180_12:75444698-75444698 G>A_RFVRILRIFKLTCHFVGLRVLGHTL
5:137089466-137089466 A>G	1.0	4180	BREAST	-	-	-	-	HNRNPA0	uc003lbt.3,p.V97A|ENST00000314940,p.V97A|NM_006805,p.V97A	protein_coding	uc003lbt.3	nonsynonymous SNV	exon1	c.T290C	p.V97A	REDSARPGAHAKVKKLFVGGLKGDV	REDSARPGAHAKAKKLFVGGLKGDV	9.0	10.0	-	-	4180_5:137089466-137089466 A>G_REDSARPGAHAKAKKLFVGGLKGDV
17:72999921-72999921 G>A	0.0	4180	BREAST	-	-	-	-	CDR2L	ENST00000337231,p.A384T|NM_014603,p.A384T|uc002jml.4,p.A384T	protein_coding	uc002jml.4	nonsynonymous SNV	exon5	c.G1150A	p.A384T	SKCRQHGAGVRHAGVQTSRPISRDS	SKCRQHGAGVRHTGVQTSRPISRDS	8.0	1.0	unscreened	-	4180_17:72999921-72999921 G>A_SKCRQHGAGVRHTGVQTSRPISRDS
1:52981544-52981544 C>T	0.0	4180	BREAST	-	-	-	-	ZCCHC11	uc001cud.3,p.V301I|ENST00000355809,p.V301I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001cud.3	nonsynonymous SNV	exon3	c.G901A	p.V301I	IFRLEKVYYVVLVIWGEMCVS	IFRLEKVYYVVLIIWGEMCVS	8.0	4.0	unscreened	-	4180_1:52981544-52981544 C>T_IFRLEKVYYVVLIIWGEMCVS
21:34951858-34951858 A>C	0.0	4180	BREAST	-	-	-	-	DONSON	NM_017613,p.V454G|uc002ysk.4,p.V454G|uc002ysj.4,p.V87G|uc002ysi.1,p.V214G|uc002ysm.4,p.V454G	retained_intron, protein_coding, nonsense_mediated_decay	uc002ysm.4	nonsynonymous SNV	exon12	c.T1361G	p.V454G	RGATMQMLKARSVNVKTQALSGYRD	RGATMQMLKARSGNVKTQALSGYRD	8.0	2.0	unscreened	-	4180_21:34951858-34951858 A>C_RGATMQMLKARSGNVKTQALSGYRD
7:64863876-64863876 A>T	0.0	4180	BREAST	-	-	-	-	ZNF92	NM_001287534,p.K207N|NM_152626,p.K283N|uc003ttz.3,p.K283N|NM_001287532,p.K251N|uc003tub.3,p.K207N|NM_001287533,p.K207N|ENST00000450302,p.K214N|ENST00000328747,p.K283N|ENST00000431504,p.K207N|NM_007139,p.K214N|uc010kzu.3,p.K251N|uc003tua.3,p.K214N|ENST00000357512,p.K251N	retained_intron, protein_coding	uc010kzu.3	nonsynonymous SNV	exon3	c.A753T	p.K251N	TLTKHKRIHTEEKPYKCEECGKAFN	TLTKHKRIHTEENPYKCEECGKAFN	6.0	5.0	unscreened	-	4180_7:64863876-64863876 A>T_TLTKHKRIHTEENPYKCEECGKAFN
12:112608181-112608181 T>C	0.0	4180	BREAST	-	-	-	-	HECTD4	ENST00000430131,p.H3581R|ENST00000377560,p.H3831R|ENST00000550722,p.H3857R|uc021reb.1,p.H3869R|NM_001109662,p.H3869R	retained_intron, protein_coding, processed_transcript	uc021reb.1	nonsynonymous SNV	exon69	c.A11606G	p.H3869R	RVLNATVQRTADHAAPEITLDPLEI	RVLNATVQRTADRAAPEITLDPLEI	6.0	8.0	unscreened	-	4180_12:112608181-112608181 T>C_RVLNATVQRTADRAAPEITLDPLEI
22:32161023-32161023 T>C	0.0	4180	BREAST	-	-	-	-	DEPDC5	ENST00000400249,p.Y86H|ENST00000535622,p.Y86H|NM_001242896,p.Y86H|uc003alt.3,p.Y86H|ENST00000382105,p.Y86H|uc003alr.2,p.Y86H|ENST00000382112,p.Y86H|ENST00000400242,p.Y86H|uc011als.2,p.Y86H|NM_001242897,p.Y86H|NM_014662,p.Y86H|NM_001007188,p.Y86H|ENST00000400248,p.Y86H|NM_001136029,p.Y86H|ENST00000400246,p.Y86H|ENST00000266091,p.Y86H|uc003als.3,p.Y86H|ENST00000382111,p.Y86H|uc011alu.2,p.Y86H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011alu.2	nonsynonymous SNV	exon5	c.T256C	p.Y86H	TQVFRLRPYQDVYVNVVDPKDVTLD	TQVFRLRPYQDVHVNVVDPKDVTLD	7.0	1.0	unscreened	-	4180_22:32161023-32161023 T>C_TQVFRLRPYQDVHVNVVDPKDVTLD
19:44981153-44981153 G>T	0.0	4180	BREAST	-	-	-	-	ZNF180	uc002ozf.4,p.H515Q|NM_001291633,p.H488Q|ENST00000391956,p.H490Q|uc002ozh.4,p.H172Q|ENST00000221327,p.H515Q|NM_001288761,p.H172Q|uc002ozi.4,p.H488Q|uc002ozg.4,p.H514Q|NM_001288760,p.H172Q|NM_001288762,p.H172Q|NM_013256,p.H515Q|NM_001278508,p.H490Q|uc010ejm.3,p.H490Q|NM_001278509,p.H488Q|NM_001288759,p.H514Q|ENST00000592529,p.H488Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ejm.3	nonsynonymous SNV	exon4	c.C1470A	p.H490Q	SQSYKLVAHQRTHTGEKPFECNQCG	SQSYKLVAHQRTQTGEKPFECNQCG	6.0	3.0	unscreened	-	4180_19:44981153-44981153 G>T_SQSYKLVAHQRTQTGEKPFECNQCG
3:50211766-50211766 C>T	1.0	4180	BREAST	-	-	-	-	SEMA3F	ENST00000002829,p.R147C|NM_004186,p.R147C|uc003cyj.3,p.R147C	retained_intron, protein_coding	uc003cyj.3	nonsynonymous SNV	exon5	c.C439T	p.R147C	TGAYNPMCTYVNRGRRAQATPWTQT	TGAYNPMCTYVNCGRRAQATPWTQT	9.0	8.0	-	-	4180_3:50211766-50211766 C>T_TGAYNPMCTYVNCGRRAQATPWTQT
6:109850199-109850201 AAC>-	0.0	4180	BREAST	0.63	rs201441562	ID=COSM1487106;OCCURENCE=10(breast)	-	AK9	uc011eat.1,p.295_295del|ENST00000355283,p.295_295del	retained_intron, protein_coding	uc011eat.1	nonframeshift deletion	exon5	c.883_885del	p.295_295del	ERDKKRREVSSFVFFFKTGSHSVAQ	ERDKKRREVSSFFFFKTGSHSVAQG	5.0	6.0	unscreened	-	4180_6:109850199-109850201 AAC>-_ERDKKRREVSSFFFFKTGSHSVAQG
18:44559418-44559418 C>T	0.0	4180	BREAST	-	-	-	-	TCEB3B	NM_016427,p.A740T|ENST00000332567,p.A740T|uc002lcr.1,p.A740T	protein_coding	uc002lcr.1	nonsynonymous SNV	exon1	c.G2218A	p.A740T	RKQAAKKVAPLMAKAIRDYKRRFSR	RKQAAKKVAPLMTKAIRDYKRRFSR	1.0	4.0	unscreened	-	4180_18:44559418-44559418 C>T_RKQAAKKVAPLMTKAIRDYKRRFSR
2:27799836-27799836 G>A	0.0	4180	BREAST	-	-	-	-	C2orf16	ENST00000408964,p.A133T|uc002rkz.4,p.A133T|NM_032266,p.A133T	protein_coding	uc002rkz.4	nonsynonymous SNV	exon1	c.G397A	p.A133T	LIPRPGHQFAKYAEMIPQPKYQIPK	LIPRPGHQFAKYTEMIPQPKYQIPK	1.0	9.0	unscreened	-	4180_2:27799836-27799836 G>A_LIPRPGHQFAKYTEMIPQPKYQIPK
7:17374544-17374544 G>T	1.0	4180	BREAST	-	-	-	-	AHR	ENST00000463496,p.E314D|uc011jxz.1,p.E314D|NM_001621,p.E314D|ENST00000242057,p.E314D	protein_coding, processed_transcript, nonsense_mediated_decay	uc011jxz.1	nonsynonymous SNV	exon8	c.G942T	p.E314D	AKGRIVLGYTEAELCTRGSGYQFIH	AKGRIVLGYTEADLCTRGSGYQFIH	8.0	8.0	unscreened	-	4180_7:17374544-17374544 G>T_AKGRIVLGYTEADLCTRGSGYQFIH
22:38823678-38823678 C>T	0.0	4180	BREAST	-	-	-	-	KCNJ4	NM_152868,p.V154M|uc003avs.1,p.V154M|ENST00000303592,p.V154M|uc021wpp.1,p.V154M|uc003avt.2,p.V154M|NM_004981,p.V154M	protein_coding	uc021wpp.1	nonsynonymous SNV	exon1	c.G460A	p.V154M	VTEECPLAVIAVVVQSIVGCVIDSF	VTEECPLAVIAVMVQSIVGCVIDSF	1.0	10.0	unscreened	-	4180_22:38823678-38823678 C>T_VTEECPLAVIAVMVQSIVGCVIDSF
4:114469823-114469823 C>A	0.0	4180	BREAST	-	-	-	-	CAMK2D	ENST00000379773,p.R135M|ENST00000296402,p.R135M|uc003ibi.3,p.R135M|ENST00000418639,p.R135M|NM_001221,p.R135M|ENST00000394522,p.R135M|uc003ibn.2,p.R135M|uc003ibl.2,p.R135M|NM_172129,p.R135M|ENST00000454265,p.R135M|ENST00000394526,p.R135M|ENST00000394524,p.R135M|NM_172127,p.R135M|ENST00000429180,p.R135M|ENST00000514328,p.R135M|ENST00000342666,p.R135M|uc003ibm.2,p.R135M|uc003ibj.3,p.R135M|uc003ibk.3,p.R135M|ENST00000508738,p.R135M|ENST00000515496,p.R135M|NM_172114,p.R135M|NM_172115,p.R135M|NM_172128,p.R135M	retained_intron, protein_coding, processed_transcript	uc003ibn.2	nonsynonymous SNV	exon6	c.G404T	p.R135M	SVNHCHLNGIVHRDLKPENLLLASK	SVNHCHLNGIVHMDLKPENLLLASK	9.0	5.0	unscreened	-	4180_4:114469823-114469823 C>A_SVNHCHLNGIVHMDLKPENLLLASK
14:100934446-100934446 G>A	0.0	4180	BREAST	-	-	-	-	WDR25	ENST00000542471,p.G47D|ENST00000402312,p.G304D|NM_001161476,p.G304D|uc001yhn.3,p.G304D|uc010avx.3,p.G304D|ENST00000554998,p.G304D|uc001yho.3,p.G47D|ENST00000335290,p.G304D|NM_024515,p.G304D	protein_coding, processed_transcript, nonsense_mediated_decay	uc010avx.3	nonsynonymous SNV	exon3	c.G911A	p.G304D	TEAVRAARWAPCGRRILSGGFDFAL	TEAVRAARWAPCDRRILSGGFDFAL	7.0	1.0	unscreened	-	4180_14:100934446-100934446 G>A_TEAVRAARWAPCDRRILSGGFDFAL
11:71955026-71955026 G>A	0.0	4180	BREAST	-	-	-	-	PHOX2A	uc001osh.4,p.S8L|NM_005169,p.S8L|ENST00000298231,p.S8L	protein_coding, processed_transcript	uc001osh.4	nonsynonymous SNV	exon1	c.C23T	p.S8L	MDYSYLNSYDSCVAAMEASA	MDYSYLNLYDSCVAAMEASA	1.0	10.0	unscreened	-	4180_11:71955026-71955026 G>A_MDYSYLNLYDSCVAAMEASA
8:12973115-12973115 ->G	0.0	4180	BREAST	-	-	-	-	DLC1	ENST00000512044,p.Q64fs|NM_006094,p.Q30fs|ENST00000358919,p.Q30fs|uc003wwl.1,p.Q64fs|uc003wwk.1,p.Q30fs|ENST00000276297,p.Q467fs|uc003wwm.2,p.Q467fs|NM_182643,p.Q467fs	retained_intron, protein_coding, processed_transcript	uc003wwm.2	frameshift insertion	exon6	c.1399dupC	p.Q467fs	EACDWLRATGFPQYAQLYEDFLFPI	EACDWLRATGFPPVCTAL	6.0	4.0	unscreened	-	4180_8:12973115-12973115 ->G_EACDWLRATGFPPVCTAL
12:54963337-54963337 C>T	0.0	4180	BREAST	-	-	-	-	PDE1B	uc001sge.3,p.R120W|ENST00000243052,p.R140W|NM_001288769,p.R99W|uc010spa.1,p.R99W|NM_000924,p.R140W|NM_001165975,p.R120W|uc001sgd.2,p.R140W|ENST00000550620,p.R120W|ENST00000538346,p.R99W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010spa.1	nonsynonymous SNV	exon4	c.C295T	p.R99W	AVQAGIFVERMFRRTYTSVGPTYST	AVQAGIFVERMFWRTYTSVGPTYST	5.0	1.0	unscreened	-	4180_12:54963337-54963337 C>T_AVQAGIFVERMFWRTYTSVGPTYST
9:88694214-88694214 G>A	0.0	4180	BREAST	-	-	-	-	GOLM1	NM_177937,p.R8C|uc004aom.3,p.R8C|uc004aol.3,p.R8C|NM_016548,p.R8C	-	uc004aom.3	nonsynonymous SNV	exon2	c.C22T	p.R8C	MMGLGNGRRSMKSPPLVLAA	MMGLGNGCRSMKSPPLVLAA	9.0	2.0	unscreened	-	4180_9:88694214-88694214 G>A_MMGLGNGCRSMKSPPLVLAA
10:50599241-50599241 C>T	0.0	4180	BREAST	-	-	-	-	DRGX	uc021pqd.2,p.R34H|ENST00000374139,p.R34H|NM_001276451,p.R34H|uc010qgq.2,p.R39H|ENST00000434016,p.R39H	protein_coding	uc021pqd.2	nonsynonymous SNV	exon3	c.G101A	p.R34H	GDFDDGFLRRKQRRNRTTFTLQQLE	GDFDDGFLRRKQHRNRTTFTLQQLE	1.0	2.0	unscreened	-	4180_10:50599241-50599241 C>T_GDFDDGFLRRKQHRNRTTFTLQQLE
15:79750586-79750586 A>-	1.0	4180	BREAST	-	-	ID=COSM1180821;OCCURENCE=1(NS),1(pancreas),11(large_intestine)	-	KIAA1024	ENST00000559272,p.L699fs|uc010unk.1,p.L699fs|NM_015206,p.L699fs|uc002bew.1,p.L699fs|ENST00000305428,p.L699fs	protein_coding, nonsense_mediated_decay	uc010unk.1	frameshift deletion	exon1	c.2097delA	p.L699fs	SGSNSESLRVKALKKSLFTRPSSRS	SGSNSESLRVKALKKASSPGHPLGP	3.0	10.0	unscreened	-	4180_15:79750586-79750586 A>-_SGSNSESLRVKALKKASSPGHPLGP
19:57910980-57910980 A>T	0.0	4180	BREAST	-	-	-	-	ZNF548	ENST00000366197,p.N442I|uc002qom.3,p.N442I|uc002qon.3,p.N454I|NM_152909,p.N442I|NM_001172773,p.N454I|ENST00000336128,p.N454I	retained_intron, protein_coding, nonsense_mediated_decay	uc002qon.3	nonsynonymous SNV	exon4	c.A1361T	p.N454I	FRYNSNLIKHWRNHTGERPYECREC	FRYNSNLIKHWRIHTGERPYECREC	7.0	6.0	unscreened	-	4180_19:57910980-57910980 A>T_FRYNSNLIKHWRIHTGERPYECREC
1:203194824-203194824 T>C	0.0	4180	BREAST	-	-	-	-	CHIT1	ENST00000255427,p.Y77C|uc001gzo.3,p.Y77C|NM_001256125,p.Y77C|ENST00000535569,p.Y87C	protein_coding, processed_transcript, nonsense_mediated_decay	uc001gzo.3	nonsynonymous SNV	exon3	c.A230G	p.Y77C	QLSTTEWNDETLYQEFNGLKKMFTD	QLSTTEWNDETLCQEFNGLKKMFTD	6.0	6.0	unscreened	-	4180_1:203194824-203194824 T>C_QLSTTEWNDETLCQEFNGLKKMFTD
5:148745651-148745651 A>G	0.0	4180	BREAST	-	-	-	-	PCYOX1L	NM_024028,p.D206G|NM_001301054,p.D189G|uc003lqk.2,p.D206G|uc003lqm.2,p.D88G|ENST00000514349,p.D116G|ENST00000274569,p.D206G|NM_001301055,p.D189G|uc003lqn.2,p.D116G|uc003lql.2,p.D189G	retained_intron, protein_coding, nonsense_mediated_decay	uc003lqn.2	nonsynonymous SNV	exon3	c.A347G	p.D116G	SLLQVGVTQRFIDDVVSAVLRASYG	SLLQVGVTQRFIGDVVSAVLRASYG	6.0	2.0	unscreened	-	4180_5:148745651-148745651 A>G_SLLQVGVTQRFIGDVVSAVLRASYG
X:15349536-15349536 C>T	0.0	4180	BREAST	-	-	-	-	PIGA	NM_002641,p.V173M|uc004cwr.3,p.V173M|ENST00000333590,p.V173M	retained_intron, protein_coding, processed_transcript	uc004cwr.3	nonsynonymous SNV	exon2	c.G517A	p.V173M	DVSSVLTNKLLTVSLCDTNHIICVS	DVSSVLTNKLLTMSLCDTNHIICVS	7.0	3.0	unscreened	-	4180_X:15349536-15349536 C>T_DVSSVLTNKLLTMSLCDTNHIICVS
2:74687596-74687596 C>-	0.0	4180	BREAST	-	-	-	-	WBP1	ENST00000409737,p.P197fs|NM_012477,p.P200fs|uc002slj.2,p.P200fs|ENST00000393972,p.P234fs|ENST00000233615,p.P200fs	retained_intron, protein_coding, processed_transcript	uc002slj.2	frameshift deletion	exon4	c.598delC	p.P200fs	GEPGAGVTPASTPPSCRYRRLTGDS	GEPGAGVTPASTPPPAAIAV	9.0	6.0	unscreened	-	4180_2:74687596-74687596 C>-_GEPGAGVTPASTPPPAAIAV
10:98321775-98321775 A>G	0.0	4180	BREAST	-	-	-	-	TM9SF3	NM_020123,p.V181A|uc001kmm.4,p.V181A|ENST00000371142,p.V181A|ENST00000443638,p.V137A	protein_coding, processed_transcript	uc001kmm.4	nonsynonymous SNV	exon4	c.T542C	p.V181A	RIVDVNLTSEGKVKLVPNTKIQMSY	RIVDVNLTSEGKAKLVPNTKIQMSY	8.0	1.0	unscreened	-	4180_10:98321775-98321775 A>G_RIVDVNLTSEGKAKLVPNTKIQMSY
1:22149873-22149873 G>A	0.0	4180	BREAST	-	-	-	-	HSPG2	uc009vqd.3,p.P4372L|uc001bfj.3,p.P4371L|uc001bfi.3,p.P388L|NM_005529,p.P4371L|ENST00000374695,p.P4371L|NM_001291860,p.P4372L	protein_coding, processed_transcript, nonsense_mediated_decay	uc009vqd.3	nonsynonymous SNV	exon97	c.C13115T	p.P4372L	LVLHSARPGAPPPQPLDLQHRAQAG	LVLHSARPGAPPLQPLDLQHRAQAG	8.0	3.0	unscreened	-	4180_1:22149873-22149873 G>A_LVLHSARPGAPPLQPLDLQHRAQAG
8:26441494-26441494 T>C	0.0	4180	BREAST	-	-	-	-	DPYSL2	uc011lah.2,p.M67T|uc003xfa.3,p.M208T|NM_001386,p.M103T|ENST00000521913,p.M67T|ENST00000523027,p.M67T|ENST00000311151,p.M103T|uc011lag.2,p.M103T|NM_001197293,p.M208T|uc003xfb.2,p.M103T|NM_001244604,p.M67T	retained_intron, protein_coding, processed_transcript	uc011lah.2	nonsynonymous SNV	exon3	c.T200C	p.M67T	QGTKAALAGGTTMIIDHVVPEPGTS	QGTKAALAGGTTTIIDHVVPEPGTS	7.0	5.0	unscreened	-	4180_8:26441494-26441494 T>C_QGTKAALAGGTTTIIDHVVPEPGTS
19:20229872-20229872 C>A	0.0	4180	BREAST	-	-	-	-	ZNF90	uc002nor.2,p.H503Q|NM_007138,p.H503Q|ENST00000418063,p.H503Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nor.2	nonsynonymous SNV	exon4	c.C1509A	p.H503Q	KYSSALSTHKIIHSGENPYKCEECG	KYSSALSTHKIIQSGENPYKCEECG	5.0	5.0	unscreened	-	4180_19:20229872-20229872 C>A_KYSSALSTHKIIQSGENPYKCEECG
11:63682722-63682722 C>T	1.0	4180	BREAST	-	-	-	-	RCOR2	ENST00000301459,p.A65T|uc001nyc.3,p.A65T|NM_173587,p.A65T	retained_intron, protein_coding, processed_transcript	uc001nyc.3	nonsynonymous SNV	exon3	c.G193A	p.A65T	QAVIPECKPESPARYSNKELKGMLV	QAVIPECKPESPTRYSNKELKGMLV	7.0	9.0	unscreened	-	4180_11:63682722-63682722 C>T_QAVIPECKPESPTRYSNKELKGMLV
15:33192249-33192249 A>T	1.0	4180	BREAST	-	-	-	-	FMN1	uc031qrh.1,p.N1195K|ENST00000561249,p.N1097K|NM_001103184,p.N972K|ENST00000334528,p.N972K|ENST00000559047,p.N1195K|NM_001277313,p.N1195K|uc001zhf.5,p.N972K	retained_intron, protein_coding, processed_transcript	uc031qrh.1	nonsynonymous SNV	exon14	c.T3585A	p.N1195K	LILAFGNYMNGGNRTRGQADGYSLE	LILAFGNYMNGGKRTRGQADGYSLE	6.0	8.0	unscreened	-	4180_15:33192249-33192249 A>T_LILAFGNYMNGGKRTRGQADGYSLE
19:11891493-11891493 G>A	0.0	4180	BREAST	-	-	-	-	ZNF441	uc002msn.4,p.C241Y|NM_152355,p.C285Y|uc010dyj.3,p.C285Y|ENST00000454339,p.C218Y|ENST00000357901,p.C285Y	retained_intron, protein_coding, nonsense_mediated_decay	uc010dyj.3	nonsynonymous SNV	exon4	c.G854A	p.C285Y	THTGEQSYECKQCGKAFYHLGSFQR	THTGEQSYECKQYGKAFYHLGSFQR	5.0	6.0	unscreened	-	4180_19:11891493-11891493 G>A_THTGEQSYECKQYGKAFYHLGSFQR
9:18680350-18680350 G>-	0.0	4180	BREAST	-	-	ID=COSM1461626,COSM1461627,COSM3718928;OCCURENCE=3(large_intestine),1(upper_aerodigestive_tract)	-	ADAMTSL1	uc003zne.4,p.G393fs|NM_052866,p.G393fs|ENST00000327883,p.G393fs|ENST00000276935,p.G393fs|ENST00000380548,p.G393fs|NM_001040272,p.G393fs|uc003znc.4,p.G393fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zne.4	frameshift deletion	exon11	c.1177delG	p.G393fs	EATPWTACSSSCGGGIQSRAVSCVE	EATPWTACSSSCGGASRAGQFPVWRRTSRGMSLQWKSGNACTPLRCPSRSPATFLTALNGWHRSGLRAQ	3.0	4.0	unscreened	-	4180_9:18680350-18680350 G>-_EATPWTACSSSCGGASRAGQFPVWRRTSRGMSLQWKSGNACTPLRCPSRSPATFLTALNGWHRSGLRAQ
7:141920240-141920240 A>G	0.0	4180	BREAST	-	-	-	-	LOC93432	ENST00000477922,p.I1977V|NM_001293626,p.I1977V	retained_intron, protein_coding	NM_001293626	nonsynonymous SNV	exon48	c.A5929G	p.I1977V	PTNTTTASTNATIPITTTPFATSTI	PTNTTTASTNATVPITTTPFATSTI	3.0	4.0	unscreened	-	4180_7:141920240-141920240 A>G_PTNTTTASTNATVPITTTPFATSTI
1:235357445-235357445 A>C	1.0	4180	BREAST	-	-	-	-	ARID4B	ENST00000421364,p.F670V|uc021pks.1,p.F670V|NM_001206794,p.F670V|NM_031371,p.F584V|ENST00000366603,p.F670V|ENST00000264183,p.F670V|ENST00000349213,p.F584V|uc001hwt.4,p.F351V|uc001hwq.3,p.F670V|NM_016374,p.F670V|uc001hws.4,p.F584V|uc001hwr.3,p.F584V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pks.1	nonsynonymous SNV	exon19	c.T2008G	p.F670V	KNCKLRRLSKPPFQTNPSPEMVSKL	KNCKLRRLSKPPVQTNPSPEMVSKL	9.0	7.0	unscreened	-	4180_1:235357445-235357445 A>C_KNCKLRRLSKPPVQTNPSPEMVSKL
1:46497186-46497186 G>A	0.0	4180	BREAST	-	-	-	-	MAST2	uc001cov.3,p.R1039H|NM_015112,p.R1039H|ENST00000372009,p.R969H|ENST00000361297,p.R1039H|uc001cow.3,p.R1039H	protein_coding, processed_transcript	uc001cow.3	nonsynonymous SNV	exon24	c.G3116A	p.R1039H	RHRLLSGDSTEKRTARPVNKVIKSA	RHRLLSGDSTEKHTARPVNKVIKSA	8.0	2.0	unscreened	-	4180_1:46497186-46497186 G>A_RHRLLSGDSTEKHTARPVNKVIKSA
12:114261111-114261111 T>-	0.0	4180	BREAST	-	-	-	-	RBM19	NM_001146699,p.K934fs|ENST00000545145,p.K934fs|ENST00000392561,p.K934fs|uc001tvm.3,p.K934fs|ENST00000552384,p.K84fs|ENST00000261741,p.K934fs|uc001tvn.4,p.K934fs|NM_001146698,p.K934fs|uc009zwi.2,p.K934fs|NM_016196,p.K934fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zwi.2	frameshift deletion	exon24	c.2801delA	p.K934fs	KTAAHFHEPPKKKRSVVLDEILEQL	KTAAHFHEPPKKSGLWCWTRSWSSWKAVTATARSRPFSC	8.0	4.0	unscreened	-	4180_12:114261111-114261111 T>-_KTAAHFHEPPKKSGLWCWTRSWSSWKAVTATARSRPFSC
18:56008977-56008977 G>A	0.0	4180	BREAST	-	rs34792654	-	-	NEDD4L	NM_001144965,p.R321H|ENST00000256832,p.R301H|NM_001144964,p.R321H|ENST00000586263,p.R414H|NM_015277,p.R422H|uc002lgy.3,p.R442H|uc002lgx.3,p.R422H|uc002lhb.2,p.R301H|ENST00000456986,p.R321H|uc002lhf.3,p.R301H|NM_001144966,p.R321H|NM_001144969,p.R414H|uc002lgz.3,p.R378H|uc010xee.1,p.R321H|NM_001243960,p.R378H|uc002lhg.3,p.R321H|NM_001144971,p.R301H|NM_001144967,p.R442H|NM_001144970,p.R301H|ENST00000382850,p.R422H|uc002lhe.2,p.R414H|NM_001144968,p.R434H|ENST00000356462,p.R378H|ENST00000357895,p.R434H|ENST00000400345,p.R442H|ENST00000435432,p.R301H|ENST00000456173,p.R301H|uc002lhc.2,p.R434H|uc002lhd.2,p.R321H|ENST00000431212,p.R321H	retained_intron, protein_coding, processed_transcript	uc010xee.1	nonsynonymous SNV	exon15	c.G962A	p.R321H	TNSNNHLIEPQIRRPRSLSSPTVTL	TNSNNHLIEPQIHRPRSLSSPTVTL	8.0	4.0	unscreened	-	4180_18:56008977-56008977 G>A_TNSNNHLIEPQIHRPRSLSSPTVTL
19:37838699-37838699 A>G	1.0	4180	BREAST	-	-	-	-	HKR1	ENST00000591134,p.K19E|ENST00000592768,p.K19E|uc002ogd.3,p.K19E|uc010xto.2,p.K61E|ENST00000591417,p.K19E|ENST00000591259,p.K61E|uc010xtp.2,p.K19E|uc002ogb.3,p.K80E|NM_181786,p.K80E|uc002oga.3,p.K61E|uc002ofz.3,p.K61E|uc002ogc.3,p.K61E|ENST00000592168,p.K19E|ENST00000586897,p.K19E|ENST00000585623,p.K19E|ENST00000541583,p.K19E|ENST00000324411,p.K80E|ENST00000392153,p.K61E|ENST00000589392,p.K61E|ENST00000591391,p.K47E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xtp.2	nonsynonymous SNV	exon3	c.A55G	p.K19E	HLVSLEIPSSKPKLIAQLERGEAPW	HLVSLEIPSSKPELIAQLERGEAPW	8.0	6.0	unscreened	-	4180_19:37838699-37838699 A>G_HLVSLEIPSSKPELIAQLERGEAPW
17:1326817-1326817 T>C	1.0	4180	BREAST	-	-	-	-	CRK	NM_016823,p.D302G|uc002fsl.3,p.D302G|ENST00000300574,p.D302G	protein_coding, processed_transcript	uc002fsl.3	nonsynonymous SNV	exon3	c.A905G	p.D302G	HVRLLDQQNPDEDFS	HVRLLDQQNPDEGFS	9.0	7.0	unscreened	-	4180_17:1326817-1326817 T>C_HVRLLDQQNPDEGFS
22:16449215-16449215 C>T	0.0	4180	BREAST	-	-	-	-	OR11H1	ENST00000252835,p.G197E|uc011agd.2,p.G197E|NM_001005239,p.G197E	protein_coding	uc011agd.2	nonsynonymous SNV	exon1	c.G590A	p.G197E	GPNIIDHVVCDPGPRFALDCVSAPR	GPNIIDHVVCDPEPRFALDCVSAPR	1.0	2.0	unscreened	-	4180_22:16449215-16449215 C>T_GPNIIDHVVCDPEPRFALDCVSAPR
21:47987437-47987437 A>G	0.0	4180	BREAST	-	-	-	-	DIP2A	NM_015151,p.I1540V|uc002zjo.2,p.I1540V|ENST00000417564,p.I1540V|ENST00000400274,p.I1536V|uc011afz.1,p.I1536V|uc002zjs.2,p.I220V|ENST00000318711,p.I1541V|NM_001146116,p.I1536V	retained_intron, protein_coding, processed_transcript	uc011afz.1	nonsynonymous SNV	exon38	c.A4606G	p.I1536V	VVGVVVIVDPGVIPINSRGEKQRMH	VVGVVVIVDPGVVPINSRGEKQRMH	6.0	1.0	unscreened	-	4180_21:47987437-47987437 A>G_VVGVVVIVDPGVVPINSRGEKQRMH
14:59006797-59006797 G>T	1.0	4180	BREAST	-	-	-	-	KIAA0586	NM_001244191,p.G1395C|uc001xdt.4,p.G1436C|uc001xdv.4,p.G1404C|uc010trr.2,p.G1533C|NM_001244190,p.G1465C|NM_001244189,p.G1533C|ENST00000423743,p.G1436C|ENST00000354386,p.G1533C|ENST00000261244,p.G1404C|uc010trs.2,p.G1395C|NM_014749,p.G1404C|NM_001244192,p.G1436C|uc001xdu.4,p.G1465C|ENST00000556134,p.G1465C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010trs.2	nonsynonymous SNV	exon30	c.G4183T	p.G1395C	SDIAPSQQQVSPGDMDRTQIELNPY	SDIAPSQQQVSPCDMDRTQIELNPY	7.0	2.0	unscreened	-	4180_14:59006797-59006797 G>T_SDIAPSQQQVSPCDMDRTQIELNPY
17:33884382-33884382 C>T	0.0	4180	BREAST	-	-	-	-	SLFN14	uc010ctu.1,p.A234T|NM_001129820,p.A234T|ENST00000415846,p.A234T	protein_coding	uc010ctu.1	nonsynonymous SNV	exon1	c.G700A	p.A234T	PRIKEMLPHYVSAFANTQGGYVLIG	PRIKEMLPHYVSTFANTQGGYVLIG	1.0	4.0	unscreened	-	4180_17:33884382-33884382 C>T_PRIKEMLPHYVSTFANTQGGYVLIG
15:63966598-63966598 A>G	0.0	4180	BREAST	-	-	-	-	HERC1	ENST00000443617,p.Y2597H|uc002amp.3,p.Y2597H|NM_003922,p.Y2597H	retained_intron, protein_coding, nonsense_mediated_decay	uc002amp.3	nonsynonymous SNV	exon38	c.T7789C	p.Y2597H	GLADLERAQAMIYKLVVHGLLEDQF	GLADLERAQAMIHKLVVHGLLEDQF	7.0	4.0	unscreened	-	4180_15:63966598-63966598 A>G_GLADLERAQAMIHKLVVHGLLEDQF
22:28193233-28193233 G>-	0.0	4180	BREAST	-	-	-	1	MN1	NM_002430,p.P1100fs|ENST00000302326,p.P1100fs|uc003adj.3,p.P1100fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc003adj.3	frameshift deletion	exon1	c.3299delC	p.P1100fs	GVGAGEHGPKAPPPALGLGIMSNST	GVGAGEHGPKAPRPPSAWASCLTLPRPLTATAAVGARAIRALRAWSRSAPRRAAAAPRHPTRSTPWRSFRRRSSYRGSSSASPRTSLWG	2.0	1.0	unscreened	-	4180_22:28193233-28193233 G>-_GVGAGEHGPKAPRPPSAWASCLTLPRPLTATAAVGARAIRALRAWSRSAPRRAAAAPRHPTRSTPWRSFRRRSSYRGSSSASPRTSLWG
3:121435848-121435848 T>C	0.0	4180	BREAST	-	-	-	-	GOLGB1	uc003eej.5,p.N303D|NM_001256486,p.N342D|ENST00000340645,p.N337D|uc021xcy.2,p.N262D|ENST00000393667,p.N342D|uc003eei.5,p.N337D|NM_004487,p.N337D|NM_001256488,p.N262D|uc010hrc.4,p.N342D|NM_001256487,p.N303D|ENST00000494517,p.N301D|uc011bjm.1,p.N223D|uc010hrd.2,p.N301D	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xcy.2	nonsynonymous SNV	exon8	c.A784G	p.N262D	ELEVAERKLSFHNLQEEMHHLLEQF	ELEVAERKLSFHDLQEEMHHLLEQF	8.0	3.0	unscreened	-	4180_3:121435848-121435848 T>C_ELEVAERKLSFHDLQEEMHHLLEQF
22:32161023-32161023 T>C	0.0	4180	BREAST	-	-	-	-	DEPDC5	uc011alt.2,p.Y86H|ENST00000536766,p.Y86H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011alt.2	nonsynonymous SNV	exon5	c.T256C	p.Y86H	TQVFRLRPYQDVYVNVVDPKVSTCA	TQVFRLRPYQDVHVNVVDPKVSTCA	7.0	1.0	unscreened	-	4180_22:32161023-32161023 T>C_TQVFRLRPYQDVHVNVVDPKVSTCA
12:122748169-122748169 A>-	0.0	4180	BREAST	-	-	ID=COSM1359584;OCCURENCE=4(large_intestine)	-	VPS33A	ENST00000535844,p.F82fs|NM_022916,p.F82fs|ENST00000451053,p.F82fs|uc001ucd.3,p.F82fs|ENST00000267199,p.F82fs	retained_intron, processed_transcript, protein_coding, nonsense_mediated_decay	uc001ucd.3	frameshift deletion	exon3	c.246delT	p.F82fs	RLPAADVKNIIFFVRPRLELMDIIA	RLPAADVKNIIFLSDPG	7.0	9.0	unscreened	-	4180_12:122748169-122748169 A>-_RLPAADVKNIIFLSDPG
8:29203033-29203033 A>G	0.0	4180	BREAST	-	-	-	-	DUSP4	ENST00000240101,p.V5A|uc003xhl.3,p.V5A|NM_057158,p.V5A	protein_coding	uc003xhl.3	nonsynonymous SNV	exon2	c.T14C	p.V5A	MGRKVHSNGSQFAEHSR	MGRKAHSNGSQFAEHSR	6.0	6.0	unscreened	-	4180_8:29203033-29203033 A>G_MGRKAHSNGSQFAEHSR
7:54617844-54617844 ->A	0.0	4180	BREAST	-	-	-	-	VSTM2A	ENST00000404951,p.P205fs	retained_intron, protein_coding, processed_transcript	ENST00000404951	frameshift insertion	exon4	c.616dupA	p.P205fs	HSTSSPQVVAKIPKQSPQSVSPILP	HSTSSPQVVAKIPKTKSTISVSNPSRSQTSPQTTSTSPSFLLSVFTFFY	1.0	2.0	unscreened	-	4180_7:54617844-54617844 ->A_HSTSSPQVVAKIPKTKSTISVSNPSRSQTSPQTTSTSPSFLLSVFTFFY
1:161018251-161018251 A>G	0.0	4180	BREAST	-	-	-	-	ARHGAP30	ENST00000368015,p.Y677H|NM_001025598,p.Y854H|uc009wtx.3,p.Y527H|NM_001287600,p.Y706H|ENST00000368013,p.Y854H|uc001fxm.3,p.Y700H|NM_001287602,p.Y677H|uc001fxl.3,p.Y854H	retained_intron, protein_coding, nonsense_mediated_decay	uc009wtx.3	nonsynonymous SNV	exon10	c.T1579C	p.Y527H	DGEAEGDQRAGGYYLEEDTLSEGSG	DGEAEGDQRAGGHYLEEDTLSEGSG	8.0	6.0	unscreened	-	4180_1:161018251-161018251 A>G_DGEAEGDQRAGGHYLEEDTLSEGSG
17:70119894-70119894 C>T	0.0	4180	BREAST	-	-	-	-	SOX9	uc002jiw.3,p.P299L|NM_000346,p.P299L|ENST00000245479,p.P299L	protein_coding	uc002jiw.3	nonsynonymous SNV	exon3	c.C896T	p.P299L	ETFDVNEFDQYLPPNGHPGVPATHG	ETFDVNEFDQYLLPNGHPGVPATHG	8.0	1.0	unscreened	-	4180_17:70119894-70119894 C>T_ETFDVNEFDQYLLPNGHPGVPATHG
4:52946079-52946079 A>G	1.0	4180	BREAST	-	-	-	-	SPATA18	uc011bzq.2,p.D418G|NM_001297608,p.D418G|uc003gzl.3,p.D450G|NM_145263,p.D450G|ENST00000295213,p.D450G|ENST00000505320,p.D450G|ENST00000419395,p.D418G|uc003gzk.1,p.D450G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bzq.2	nonsynonymous SNV	exon8	c.A1253G	p.D418G	DIAYGADGEVFNDCKYRRSYDSDFT	DIAYGADGEVFNGCKYRRSYDSDFT	7.0	9.0	unscreened	-	4180_4:52946079-52946079 A>G_DIAYGADGEVFNGCKYRRSYDSDFT
4:1388622-1388622 ->CA	0.0	4180	BREAST	-	-	ID=COSM1427139;OCCURENCE=14(large_intestine),2(breast)	-	CRIPAK	ENST00000324803,p.L108fs|NM_175918,p.L108fs|uc003gdf.2,p.L108fs	protein_coding	uc003gdf.2	frameshift insertion	exon1	c.323_324insCA	p.L108fs	LLTHVPMWSARLLTCPCGVPACSHV	LLTHVPMWSARLLTRAHVECPPAHTCRCGVPACSHVPMRSARLLTRAHAECPPAHTCPCGVPACSHVPTWSARLLTRAHVECPPAHTCQRGVPA	4.0	10.0	unscreened	-	4180_4:1388622-1388622 ->CA_LLTHVPMWSARLLTRAHVECPPAHTCRCGVPACSHVPMRSARLLTRAHAECPPAHTCPCGVPACSHVPTWSARLLTRAHVECPPAHTCQRGVPA
11:62543274-62543274 C>T	1.0	4180	BREAST	-	-	-	-	TAF6L	ENST00000525405,p.R7W|uc001nvc.3,p.R7W|ENST00000526261,p.R7W|ENST00000529509,p.R7W|uc010rmg.2,p.R7W|ENST00000294168,p.R7W|NM_006473,p.R7W|uc009yof.3,p.R7W	retained_intron, protein_coding, nonsense_mediated_decay	uc010rmg.2	nonsynonymous SNV	exon2	c.C19T	p.R7W	MSEREERRFVEIPRESVRL	MSEREEWRFVEIPRESVRL	8.0	1.0	unscreened	-	4180_11:62543274-62543274 C>T_MSEREEWRFVEIPRESVRL
2:216298109-216298109 G>A	0.0	4180	BREAST	-	-	-	-	FN1	ENST00000336916,p.S118F|uc002vfg.3,p.S118F|NM_212478,p.S118F|ENST00000359671,p.S118F|NM_212476,p.S118F|ENST00000357009,p.S118F|ENST00000346544,p.S118F|uc002vfh.3,p.S118F|ENST00000357867,p.S118F|NM_212474,p.S118F|uc002vfj.3,p.S118F|NM_212482,p.S118F|ENST00000421182,p.S118F|uc002vfe.3,p.S118F|uc002vfc.3,p.S118F|uc002vfl.3,p.S118F|ENST00000354785,p.S118F|uc002vfa.3,p.S118F|ENST00000323926,p.S118F|NM_054034,p.S118F|uc002vfb.3,p.S118F|NM_002026,p.S118F|ENST00000356005,p.S118F|uc002vff.3,p.S118F|ENST00000443816,p.S118F|ENST00000426059,p.S118F|ENST00000446046,p.S118F|uc002vfi.3,p.S118F|ENST00000432072,p.S118F|ENST00000345488,p.S118F	retained_intron, protein_coding, processed_transcript	uc002vfl.3	nonsynonymous SNV	exon3	c.C353T	p.S118F	YRVGDTYERPKDSMIWDCTCIGAGR	YRVGDTYERPKDFMIWDCTCIGAGR	10.0	3.0	unscreened	-	4180_2:216298109-216298109 G>A_YRVGDTYERPKDFMIWDCTCIGAGR
12:107937778-107937778 C>-	0.0	4180	BREAST	-	-	ID=COSM1358465;OCCURENCE=3(large_intestine)	-	BTBD11	uc001tmj.3,p.T451fs|uc009zut.1,p.T451fs|NM_001018072,p.T451fs|ENST00000550706,p.T82fs|ENST00000415943,p.T85fs|uc001tmk.1,p.T451fs|ENST00000280758,p.T451fs|ENST00000490090,p.T451fs|ENST00000420571,p.T451fs	protein_coding	uc009zut.1	frameshift deletion	exon3	c.1352delC	p.T451fs	LQPLNAKHHGNGTPLHHKQGALYWE	LQPLNAKHHGNGTPCTTSRGHCTGSPRPCTPFAISCTAHKWNGKTPTWSLPKSTSRWKGPSSCCRR	4.0	1.0	unscreened	-	4180_12:107937778-107937778 C>-_LQPLNAKHHGNGTPCTTSRGHCTGSPRPCTPFAISCTAHKWNGKTPTWSLPKSTSRWKGPSSCCRR
19:8176556-8176556 C>T	0.0	4180	BREAST	-	-	-	-	FBN3	ENST00000600128,p.A1354T|ENST00000270509,p.A1354T|ENST00000601739,p.A1354T|NM_032447,p.A1354T|uc002mjf.3,p.A1354T	retained_intron, protein_coding	uc002mjf.3	nonsynonymous SNV	exon31	c.G4060A	p.A1354T	PGSYRCTCRQGFAGDGFFCEDRDEC	PGSYRCTCRQGFTGDGFFCEDRDEC	1.0	3.0	unscreened	-	4180_19:8176556-8176556 C>T_PGSYRCTCRQGFTGDGFFCEDRDEC
9:94495479-94495479 C>T	0.0	4180	BREAST	-	-	-	-	ROR2	NM_004560,p.A288T|uc004ark.3,p.A288T|ENST00000375715,p.A148T|ENST00000375708,p.A288T|uc004ari.1,p.A148T|uc004arj.2,p.A288T	retained_intron, protein_coding, processed_transcript	uc004ark.3	nonsynonymous SNV	exon6	c.G862A	p.A288T	LILMRLQLPKCEALPMPESPDAANC	LILMRLQLPKCETLPMPESPDAANC	5.0	9.0	unscreened	-	4180_9:94495479-94495479 C>T_LILMRLQLPKCETLPMPESPDAANC
17:3788847-3788847 ->G	0.0	4180	BREAST	-	-	-	-	CAMKK1	uc002fwu.3,p.P45fs|ENST00000381769,p.P72fs|uc002fwv.3,p.P45fs|uc002fwt.3,p.P45fs|ENST00000348335,p.P45fs|ENST00000158166,p.P45fs|NM_032294,p.P45fs|NM_172207,p.P45fs|ENST00000381771,p.P45fs|NM_172206,p.P45fs	retained_intron, protein_coding	uc002fwv.3	frameshift insertion	exon2	c.134dupC	p.P45fs	GGPEPTRNGVDPPPRARAASVIPGS	GGPEPTRNGVDPPTTGQSCLCDPWQYFKTAPSPA	5.0	3.0	unscreened	-	4180_17:3788847-3788847 ->G_GGPEPTRNGVDPPTTGQSCLCDPWQYFKTAPSPA
19:58944755-58944755 T>C	0.0	4180	BREAST	-	-	-	-	ZNF132	ENST00000254166,p.S686G|uc002qst.4,p.S686G|NM_003433,p.S686G	retained_intron, protein_coding	uc002qst.4	nonsynonymous SNV	exon3	c.A2056G	p.S686G	QKVHTRERTYECSQCGKLFSHLCNL	QKVHTRERTYECGQCGKLFSHLCNL	3.0	8.0	unscreened	-	4180_19:58944755-58944755 T>C_QKVHTRERTYECGQCGKLFSHLCNL
5:73128196-73128196 C>T	0.0	4180	BREAST	-	-	-	-	ARHGEF28	ENST00000296799,p.P40L|NM_001244364,p.P40L|uc011csr.2,p.P40L	retained_intron, protein_coding, processed_transcript	uc011csr.2	nonsynonymous SNV	exon2	c.C119T	p.P40L	QDRSFDILKKSKPPSTLLAAGRLSD	QDRSFDILKKSKLPSTLLAAGRLSD	7.0	4.0	unscreened	-	4180_5:73128196-73128196 C>T_QDRSFDILKKSKLPSTLLAAGRLSD
5:73128196-73128196 C>T	0.0	4180	BREAST	-	-	-	-	ARHGEF28	ENST00000426542,p.P353L|ENST00000287898,p.P353L|ENST00000513042,p.P353L|ENST00000437974,p.P353L|uc011csq.2,p.P353L|ENST00000296794,p.P353L|uc021yam.1,p.P353L|NM_001080479,p.P353L|ENST00000545377,p.P353L|NM_001177693,p.P353L|uc003kcy.1,p.P353L|uc010izf.3,p.P353L	retained_intron, protein_coding, processed_transcript	uc021yam.1	nonsynonymous SNV	exon9	c.C1058T	p.P353L	LDRSFDILKKSKPPSTLLAAGRLSD	LDRSFDILKKSKLPSTLLAAGRLSD	7.0	4.0	unscreened	-	4180_5:73128196-73128196 C>T_LDRSFDILKKSKLPSTLLAAGRLSD
2:179422490-179422490 C>T	0.0	4180	BREAST	-	-	-	-	TTN	ENST00000359218,p.M20257I|ENST00000342992,p.M26629I|NM_003319,p.M20132I|ENST00000591111,p.M27556I|uc031rqc.1,p.M29197I|ENST00000342175,p.M20324I|uc021vta.2,p.M20257I|uc031rqd.1,p.M27556I|ENST00000460472,p.M20132I|NM_001256850,p.M27556I|NM_001267550,p.M29197I|uc021vsy.2,p.M26629I|NM_133432,p.M20257I|ENST00000589042,p.M29197I|uc021vsz.2,p.M20324I|NM_133437,p.M20324I|NM_133378,p.M26629I|uc021vtb.2,p.M20132I	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon278	c.G82668A	p.M27556I	WTEVSATVARTMMKVMKLTTGEEYQ	WTEVSATVARTMIKVMKLTTGEEYQ	2.0	5.0	unscreened	-	4180_2:179422490-179422490 C>T_WTEVSATVARTMIKVMKLTTGEEYQ
9:133507654-133507654 A>C	1.0	4180	BREAST	-	-	-	-	FUBP3	ENST00000319725,p.Q500P|uc004bzr.1,p.Q500P|NM_003934,p.Q500P	protein_coding, processed_transcript	uc004bzr.1	nonsynonymous SNV	exon16	c.A1499C	p.Q500P	WGSTYQAWQQPTQQVPSQQSQPQSS	WGSTYQAWQQPTPQVPSQQSQPQSS	9.0	4.0	-	-	4180_9:133507654-133507654 A>C_WGSTYQAWQQPTPQVPSQQSQPQSS
1:45079849-45079849 C>A	0.0	4180	BREAST	-	-	-	-	RNF220	NM_018150,p.A213E|ENST00000361799,p.A213E|ENST00000355387,p.A213E|ENST00000372247,p.A213E|uc001clv.1,p.A213E|uc001clw.1,p.A213E	protein_coding, processed_transcript	uc001clw.1	nonsynonymous SNV	exon3	c.C638A	p.A213E	SPEDRNDRCKKKAAALFDSQAPICP	SPEDRNDRCKKKEAALFDSQAPICP	10.0	5.0	unscreened	-	4180_1:45079849-45079849 C>A_SPEDRNDRCKKKEAALFDSQAPICP
5:178562923-178562923 C>T	0.0	4180	BREAST	0.0018	-	ID=COSM1066650;OCCURENCE=1(endometrium),2(large_intestine),1(haematopoietic_and_lymphoid_tissue)	-	ADAMTS2	uc003mjw.3,p.R691H|NM_014244,p.R691H|ENST00000251582,p.R691H	retained_intron, protein_coding	uc003mjw.3	nonsynonymous SNV	exon13	c.G2072A	p.R691H	RCSYKDAFSLCVRGDCRKVGCDGVI	RCSYKDAFSLCVHGDCRKVGCDGVI	6.0	9.0	unscreened	-	4180_5:178562923-178562923 C>T_RCSYKDAFSLCVHGDCRKVGCDGVI
6:27279681-27279681 C>A	0.0	4180	BREAST	-	-	-	-	POM121L2	ENST00000377451,p.G90V|NM_033482,p.G90V|uc011dku.1,p.G90V|ENST00000444565,p.G90V	protein_coding	uc011dku.1	nonsynonymous SNV	exon1	c.G269T	p.G90V	RFPMKKSQNSPLGPLPSDWWESYLK	RFPMKKSQNSPLVPLPSDWWESYLK	1.0	9.0	unscreened	-	4180_6:27279681-27279681 C>A_RFPMKKSQNSPLVPLPSDWWESYLK
10:105179371-105179371 C>A	0.0	4180	BREAST	-	-	-	-	PDCD11	uc001kwy.1,p.P728H|ENST00000369797,p.P728H|NM_014976,p.P728H	protein_coding, processed_transcript	uc001kwy.1	nonsynonymous SNV	exon16	c.C2183A	p.P728H	GGQDPKNFSEIHPGMLLIGFVKSIK	GGQDPKNFSEIHHGMLLIGFVKSIK	8.0	3.0	unscreened	-	4180_10:105179371-105179371 C>A_GGQDPKNFSEIHHGMLLIGFVKSIK
11:47611635-47611635 A>C	0.0	4180	BREAST	-	-	-	-	C1QTNF4	NM_031909,p.L243R|uc001ngc.2,p.L243R|uc021qit.1,p.L243R|ENST00000302514,p.L243R	protein_coding	uc021qit.1	nonsynonymous SNV	exon1	c.T728G	p.L243R	FSFTLGKLPRKTLSVKLMKNRDEVQ	FSFTLGKLPRKTRSVKLMKNRDEVQ	1.0	1.0	unscreened	-	4180_11:47611635-47611635 A>C_FSFTLGKLPRKTRSVKLMKNRDEVQ
8:140631177-140631177 C>T	0.0	4180	BREAST	-	-	-	-	KCNK9	ENST00000522317,p.R150H|uc003yvg.1,p.R150H|NM_001282534,p.R150H|ENST00000520439,p.R150H|uc003yvf.1,p.R150H|ENST00000303015,p.R150H	protein_coding, processed_transcript	uc003yvg.1	nonsynonymous SNV	exon2	c.G449A	p.R150H	YLLKRIKKCCGMRNTDVSMENMVTV	YLLKRIKKCCGMHNTDVSMENMVTV	5.0	3.0	unscreened	-	4180_8:140631177-140631177 C>T_YLLKRIKKCCGMHNTDVSMENMVTV
18:56939678-56939678 C>T	0.0	4180	BREAST	-	-	-	-	RAX	uc002lhx.3,p.R153H|NM_013435,p.R153H|ENST00000334889,p.R153H	retained_intron, protein_coding	uc002lhx.3	nonsynonymous SNV	exon2	c.G458A	p.R153H	TTFTTYQLHELERAFEKSHYPDVYS	TTFTTYQLHELEHAFEKSHYPDVYS	1.0	9.0	unscreened	-	4180_18:56939678-56939678 C>T_TTFTTYQLHELEHAFEKSHYPDVYS
X:149831907-149831907 A>C	0.0	4180	BREAST	-	-	-	-	MTM1	uc011mxy.2,p.K453T|ENST00000413012,p.K453T|ENST00000370396,p.K490T|NM_000252,p.K490T|uc010nte.3,p.K358T|ENST00000543350,p.K375T|uc011mxz.2,p.K375T|uc004fef.4,p.K490T	protein_coding, processed_transcript	uc011mxz.2	nonsynonymous SNV	exon12	c.A1124C	p.K375T	FLFNCESARERQKVTERTVSLWSLI	FLFNCESARERQTVTERTVSLWSLI	7.0	3.0	unscreened	-	4180_X:149831907-149831907 A>C_FLFNCESARERQTVTERTVSLWSLI
5:1278779-1278779 C>T	0.0	4180	BREAST	-	-	ID=COSM1733175,COSM1733176;OCCURENCE=1(pancreas)	1	TERT	ENST00000460137,p.V743I|ENST00000508104,p.V755I|ENST00000296820,p.V755I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000508104	nonsynonymous SNV	exon6	c.G2263A	p.V755I	RYAVVQKAAHGHVRKAFKSHVLRPV	RYAVVQKAAHGHIRKAFKSHVLRPV	1.0	10.0	unscreened	-	4180_5:1278779-1278779 C>T_RYAVVQKAAHGHIRKAFKSHVLRPV
5:1278779-1278779 C>T	0.0	4180	BREAST	-	-	ID=COSM1733175,COSM1733176;OCCURENCE=1(pancreas)	1	TERT	uc003jcb.1,p.V755I|NM_198253,p.V755I|ENST00000334602,p.V755I|uc003jca.1,p.V743I|ENST00000310581,p.V755I|uc003jcc.1,p.V755I|NM_001193376,p.V755I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jcc.1	nonsynonymous SNV	exon6	c.G2263A	p.V755I	RYAVVQKAAHGHVRKAFKSHVSTLT	RYAVVQKAAHGHIRKAFKSHVSTLT	1.0	10.0	unscreened	-	4180_5:1278779-1278779 C>T_RYAVVQKAAHGHIRKAFKSHVSTLT
17:15975524-15975524 A>G	1.0	4180	BREAST	-	-	-	1	NCOR1	uc002gpp.1,p.L1184S|NM_006311,p.L1277S|uc002gpo.3,p.L1277S|ENST00000395851,p.L1293S|ENST00000268712,p.L1277S|uc010coy.3,p.L185S|uc010vwc.2,p.L88S|NM_001190440,p.L1293S|uc002gpn.3,p.L1293S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vwc.2	nonsynonymous SNV	exon5	c.T263C	p.L88S	VSAPLEGLICRALPRGSPHSDLKER	VSAPLEGLICRASPRGSPHSDLKER	10.0	9.0	-	-	4180_17:15975524-15975524 A>G_VSAPLEGLICRASPRGSPHSDLKER
17:42426884-42426884 G>A	0.0	4180	BREAST	0.0014	-	ID=COSM88570;OCCURENCE=1(ovary),1(large_intestine)	-	GRN	NM_002087,p.V77I|ENST00000592783,p.V77I|ENST00000589536,p.V77I|ENST00000587518,p.V77I|ENST00000591740,p.V77I|ENST00000053867,p.V77I|uc002igp.1,p.V77I|ENST00000593167,p.V77I|ENST00000586782,p.V77I|ENST00000588237,p.V77I|ENST00000588143,p.V77I|ENST00000589265,p.V77I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002igp.1	nonsynonymous SNV	exon3	c.G229A	p.V77I	AHCSAGHSCIFTVSGTSSCCPFPEA	AHCSAGHSCIFTISGTSSCCPFPEA	10.0	3.0	unscreened	-	4180_17:42426884-42426884 G>A_AHCSAGHSCIFTISGTSSCCPFPEA
10:33018277-33018277 A>-	0.0	4180	BREAST	-	-	ID=COSM1347641;OCCURENCE=6(large_intestine)	-	CCDC7	ENST00000375028,p.K216fs|ENST00000375030,p.K248fs|ENST00000375025,p.K240fs|uc001iwl.1,p.K248fs|ENST00000302316,p.K240fs|NM_024688,p.K240fs|uc010qei.1,p.K152fs|uc001iwm.1,p.K216fs|uc001iwn.4,p.K240fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qei.1	frameshift deletion	exon7	c.454delA	p.K152fs	GVERHKTFPLEIKKKDISLEHLLPE	GVERHKTFPLEIKKRIYHLNICCLRRKFYYQEANLKRRNFKLK	4.0	6.0	unscreened	-	4180_10:33018277-33018277 A>-_GVERHKTFPLEIKKRIYHLNICCLRRKFYYQEANLKRRNFKLK
2:148683686-148683686 A>-	1.0	4180	BREAST	-	-	ID=COSM252949;OCCURENCE=1(oesophagus),4(stomach),1(ovary),10(large_intestine),3(pancreas),1(liver),1(skin)	1	ACVR2A	NM_001616,p.K435fs|NM_001278579,p.K435fs|uc002twg.3,p.K435fs|ENST00000535787,p.K327fs|ENST00000241416,p.K435fs|NM_001278580,p.K327fs|ENST00000404590,p.K435fs|uc002twh.3,p.K435fs|uc010zbn.2,p.K327fs	retained_intron, protein_coding, processed_transcript	uc010zbn.2	frameshift deletion	exon10	c.979delA	p.K327fs	PSLEDMQEVVVHKKKRPVLRDYWQK	PSLEDMQEVVVHKKRGLF	6.0	10.0	unscreened	-	4180_2:148683686-148683686 A>-_PSLEDMQEVVVHKKRGLF
1:154033446-154033446 G>A	0.0	4180	BREAST	-	-	-	-	NUP210L	ENST00000368559,p.A907V|NM_207308,p.A907V|uc010peh.2,p.A907V|ENST00000271854,p.A907V|uc001fdw.3,p.A907V|NM_001159484,p.A907V	protein_coding	uc010peh.2	nonsynonymous SNV	exon19	c.C2720T	p.A907V	LLVDDVTVVPENATIYNHPDVKETF	LLVDDVTVVPENVTIYNHPDVKETF	1.0	5.0	unscreened	-	4180_1:154033446-154033446 G>A_LLVDDVTVVPENVTIYNHPDVKETF
15:65744341-65744341 A>T	1.0	4180	BREAST	-	-	-	-	DPP8	uc002aow.3,p.Y807N|uc002aoz.3,p.Y691N|NM_197960,p.Y807N|ENST00000559233,p.Y807N|NM_017743,p.Y691N|uc002aov.3,p.Y807N|ENST00000321118,p.Y758N|ENST00000341861,p.Y807N|uc021soz.1,p.Y791N|uc010bhj.3,p.Y807N|ENST00000321147,p.Y756N|uc010bhi.3,p.Y110N|uc002aoy.3,p.Y756N|uc002aox.3,p.Y791N|NM_197961,p.Y756N|NM_130434,p.Y791N|ENST00000339244,p.Y634N|ENST00000300141,p.Y791N|uc010bhk.1,p.Y376N|ENST00000358939,p.Y691N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021soz.1	nonsynonymous SNV	exon18	c.T2371A	p.Y791N	YMGHPDQNEQGYYLGSVAMQAEKFP	YMGHPDQNEQGYNLGSVAMQAEKFP	8.0	7.0	unscreened	-	4180_15:65744341-65744341 A>T_YMGHPDQNEQGYNLGSVAMQAEKFP
6:102503432-102503432 A>-	0.0	4180	BREAST	-	-	ID=COSM311627,COSM311628;OCCURENCE=1(lung),9(large_intestine),1(pancreas)	-	GRIK2	uc010kcw.3,p.K847fs|NM_001166247,p.K847fs|ENST00000369138,p.K847fs	retained_intron, protein_coding	uc010kcw.3	frameshift deletion	exon15	c.2539delA	p.K847fs	VFVAVGEFLYKSKKNAQLEKRAKTK	VFVAVGEFLYKSKKTLNWKREPRLSYLKTMYSSLFWSQFPFLQCCHHHHLHHHYHHVL	1.0	3.0	unscreened	-	4180_6:102503432-102503432 A>-_VFVAVGEFLYKSKKTLNWKREPRLSYLKTMYSSLFWSQFPFLQCCHHHHLHHHYHHVL
17:40342338-40342338 C>T	0.0	4180	BREAST	-	-	-	-	GHDC	uc002hze.4,p.G443D|ENST00000436923,p.G443D|NM_001142623,p.G443D|ENST00000414034,p.G443D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002hze.4	nonsynonymous SNV	exon9	c.G1328A	p.G443D	WGRTDRAEDTRLGSCPFTGSMCAHG	WGRTDRAEDTRLDSCPFTGSMCAHG	8.0	8.0	unscreened	-	4180_17:40342338-40342338 C>T_WGRTDRAEDTRLDSCPFTGSMCAHG
15:34014967-34014967 G>A	0.0	4180	BREAST	-	-	-	-	RYR3	uc010bar.3,p.R2224H|ENST00000389232,p.R2224H|ENST00000415757,p.R2224H|uc001zhi.3,p.R2224H|NM_001036,p.R2224H|NM_001243996,p.R2224H	retained_intron, protein_coding, processed_transcript	uc010bar.3	nonsynonymous SNV	exon44	c.G6671A	p.R2224H	ENASVVVKLLIRRPECFGPALRGEG	ENASVVVKLLIRHPECFGPALRGEG	2.0	3.0	unscreened	-	4180_15:34014967-34014967 G>A_ENASVVVKLLIRHPECFGPALRGEG
6:35216465-35216465 C>A	0.0	4180	BREAST	-	-	-	-	SCUBE3	NM_152753,p.L989M|uc003okg.1,p.L988M|uc003okf.1,p.L989M|ENST00000394681,p.L1005M|ENST00000274938,p.L989M|uc003okh.1,p.L876M	protein_coding	uc003okh.1	nonsynonymous SNV	exon22	c.C2626A	p.L876M	FIKLLRSKVSSFLRPYK	FIKLLRSKVSSFMRPYK	2.0	4.0	unscreened	-	4180_6:35216465-35216465 C>A_FIKLLRSKVSSFMRPYK
15:63966588-63966588 A>G	0.0	4180	BREAST	-	-	-	-	HERC1	ENST00000443617,p.V2600A|NM_003922,p.V2600A|uc002amp.3,p.V2600A	retained_intron, protein_coding, nonsense_mediated_decay	uc002amp.3	nonsynonymous SNV	exon38	c.T7799C	p.V2600A	DLERAQAMIYKLVVHGLLEDQFGGK	DLERAQAMIYKLAVHGLLEDQFGGK	7.0	4.0	unscreened	-	4180_15:63966588-63966588 A>G_DLERAQAMIYKLAVHGLLEDQFGGK
16:70691008-70691008 T>C	0.0	4180	BREAST	-	-	-	-	IL34	NM_001172772,p.V129A|uc002ezi.2,p.V128A|ENST00000566361,p.V104A|uc021tkk.1,p.V129A|ENST00000288098,p.V129A|uc002ezh.2,p.V129A|NM_152456,p.V129A|NM_001172771,p.V128A|ENST00000429149,p.V129A	retained_intron, protein_coding, processed_transcript	uc021tkk.1	nonsynonymous SNV	exon5	c.T386C	p.V129A	KYLQEVETLLLNVQQGLTDVEVSPK	KYLQEVETLLLNAQQGLTDVEVSPK	8.0	1.0	unscreened	-	4180_16:70691008-70691008 T>C_KYLQEVETLLLNAQQGLTDVEVSPK
19:53644313-53644313 T>C	0.0	4180	BREAST	-	-	-	-	ZNF347	uc002qbc.2,p.I591V|NM_032584,p.I590V|uc002qbb.2,p.I590V|ENST00000334197,p.I590V|ENST00000452676,p.I591V|NM_001172674,p.I591V|ENST00000601469,p.I591V|uc010eql.2,p.I591V|NM_001172675,p.I591V	retained_intron, protein_coding	uc010eql.2	nonsynonymous SNV	exon5	c.A1771G	p.I591V	FTQNSHLARHRGIHTGEKPYKCNEC	FTQNSHLARHRGVHTGEKPYKCNEC	6.0	1.0	unscreened	-	4180_19:53644313-53644313 T>C_FTQNSHLARHRGVHTGEKPYKCNEC
19:12126892-12126892 G>T	0.0	4180	BREAST	-	-	-	-	ZNF433	uc002msz.1,p.H229N|ENST00000344980,p.H264N|NM_001080411,p.H264N|uc002msy.1,p.H264N|ENST00000419886,p.H229N	protein_coding, nonsense_mediated_decay	uc002msz.1	nonsynonymous SNV	exon5	c.C685A	p.H229N	KPYKCNECGKAFHSSTCLHAHKRTH	KPYKCNECGKAFNSSTCLHAHKRTH	5.0	3.0	unscreened	-	4180_19:12126892-12126892 G>T_KPYKCNECGKAFNSSTCLHAHKRTH
19:13879829-13879829 A>G	0.0	4180	BREAST	-	-	-	-	MRI1	uc002mxe.3,p.T306A|NM_001031727,p.T306A|ENST00000319545,p.T259A|ENST00000040663,p.T306A|NM_032285,p.T259A|uc002mxf.3,p.T259A	retained_intron, protein_coding	uc002mxf.3	nonsynonymous SNV	exon5	c.A775G	p.T259A	EIIIEERPGQELTDVNGVRIAAPGI	EIIIEERPGQELADVNGVRIAAPGI	9.0	1.0	unscreened	-	4180_19:13879829-13879829 A>G_EIIIEERPGQELADVNGVRIAAPGI
2:73677678-73677678 G>A	0.0	4180	BREAST	-	-	-	-	ALMS1	uc002sjh.1,p.V729I|ENST00000264448,p.V1341I|ENST00000409009,p.V1299I|ENST00000377715,p.V1341I|uc002sjf.1,p.V1299I|uc002sjg.3,p.V729I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002sjh.1	nonsynonymous SNV	exon1	c.G2185A	p.V729I	PSTFYSHTEKPGVFYQQVLPHSHPT	PSTFYSHTEKPGIFYQQVLPHSHPT	7.0	3.0	unscreened	-	4180_2:73677678-73677678 G>A_PSTFYSHTEKPGIFYQQVLPHSHPT
11:96074803-96074803 ->C	0.0	4180	BREAST	-	-	-	1	MAML2	NM_032427,p.A86fs|ENST00000524717,p.A86fs|uc001pfw.1,p.A86fs	protein_coding	uc001pfw.1	frameshift insertion	exon1	c.256dupG	p.A86fs	LQLLSLVQHGQGARKAGKHTKATAT	LQLLSLVQHGQGGKESWQTHQGHRHCCHHYSPSTAPCCPSCGLPSSSNSSPTAPTRLSPSPPAAPAEQ	6.0	3.0	unscreened	-	4180_11:96074803-96074803 ->C_LQLLSLVQHGQGGKESWQTHQGHRHCCHHYSPSTAPCCPSCGLPSSSNSSPTAPTRLSPSPPAAPAEQ
3:126220106-126220106 T>-	0.0	4180	BREAST	-	-	ID=COSM1418650,COSM1418651;OCCURENCE=1(large_intestine)	-	UROC1	uc003eiz.2,p.K307fs|NM_144639,p.K307fs|ENST00000290868,p.K307fs	protein_coding	uc003eiz.2	frameshift deletion	exon10	c.920delA	p.K307fs	RCIQRLREARKKKEVLSLGYHGNVV	RCIQRLREARKKRRCSALVTMATWWLFGSAWSTNWTRRGSAWWTWGQIRHPATTRSMAATTLCSSASRRPRASWPPTLLCSRTWSRKA	1.0	2.0	unscreened	-	4180_3:126220106-126220106 T>-_RCIQRLREARKKRRCSALVTMATWWLFGSAWSTNWTRRGSAWWTWGQIRHPATTRSMAATTLCSSASRRPRASWPPTLLCSRTWSRKA
3:126220106-126220106 T>-	0.0	4180	BREAST	-	-	ID=COSM1418650,COSM1418651;OCCURENCE=1(large_intestine)	-	UROC1	uc010hsi.2,p.K367fs|ENST00000383579,p.K367fs|NM_001165974,p.K367fs	protein_coding	uc010hsi.2	frameshift deletion	exon11	c.1100delA	p.K367fs	LLLCPSREARKKKEVLSLGYHGNVV	LLLCPSREARKKRRCSALVTMATWWLFGSAWSTNWTRRGSAWWTWGQIRHPATTRSMAATTLCSSASRRPRASWPPTLLCSRTWSRKA	1.0	2.0	unscreened	-	4180_3:126220106-126220106 T>-_LLLCPSREARKKRRCSALVTMATWWLFGSAWSTNWTRRGSAWWTWGQIRHPATTRSMAATTLCSSASRRPRASWPPTLLCSRTWSRKA
7:31697914-31697914 T>-	0.0	4180	BREAST	-	-	-	-	CCDC129	ENST00000451887,p.F1033fs|uc011kae.3,p.F1033fs|NM_001257968,p.F1033fs	retained_intron, protein_coding, processed_transcript	uc011kae.3	frameshift deletion	exon15	c.3097delT	p.F1033fs	CSGELLSAELDPFFFSSKANNSAKD	CSGELLSAELDPFFFLQKQITLLKMKK	1.0	3.0	unscreened	-	4180_7:31697914-31697914 T>-_CSGELLSAELDPFFFLQKQITLLKMKK
8:92999195-92999195 G>A	0.0	4180	BREAST	-	-	-	1	RUNX1T1	ENST00000518844,p.H306Y|uc010mao.3,p.H306Y|NM_001198634,p.H344Y|NM_001198632,p.H306Y|NM_175636,p.H296Y|NM_175635,p.H296Y|uc003yfd.3,p.H333Y|NM_001198631,p.H333Y|NM_001198629,p.H333Y|uc022axo.1,p.H333Y|uc022axp.1,p.H333Y|NM_001198679,p.H392Y|ENST00000523629,p.H333Y|uc003yfe.2,p.H296Y|ENST00000396218,p.H306Y|uc022axv.1,p.H333Y|ENST00000520724,p.H296Y|uc022axu.1,p.H313Y|uc022axt.1,p.H333Y|NM_001198626,p.H333Y|NM_001198625,p.H306Y|ENST00000422361,p.H296Y|NM_001198633,p.H313Y|uc003yfb.2,p.H296Y|uc011lgi.2,p.H344Y|uc022axr.1,p.H333Y|NM_001198627,p.H333Y|ENST00000360348,p.H296Y|NM_004349,p.H306Y|uc003yfc.2,p.H306Y|NM_001198630,p.H333Y|uc010mam.3,p.H306Y|NM_175634,p.H333Y|uc022axq.1,p.H333Y|uc022axs.1,p.H392Y|ENST00000436581,p.H344Y|ENST00000265814,p.H333Y|NM_001198628,p.H333Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022axv.1	nonsynonymous SNV	exon8	c.C997T	p.H333Y	RDLRDRNRPMGLHGTRQEEMIDHRL	RDLRDRNRPMGLYGTRQEEMIDHRL	5.0	1.0	unscreened	-	4180_8:92999195-92999195 G>A_RDLRDRNRPMGLYGTRQEEMIDHRL
12:53495854-53495854 G>A	0.0	4180	BREAST	-	-	-	-	IGFBP6	ENST00000548547,p.R207Q|uc001sbu.1,p.R209Q|NM_002178,p.R209Q|ENST00000301464,p.R209Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc001sbu.1	nonsynonymous SNV	exon4	c.G626A	p.R209Q	RKRQCRSSQGQRRGPCWCVDRMGKS	RKRQCRSSQGQRQGPCWCVDRMGKS	7.0	10.0	unscreened	-	4180_12:53495854-53495854 G>A_RKRQCRSSQGQRQGPCWCVDRMGKS
21:46011518-46011518 C>T	0.0	4180	BREAST	-	-	-	-	KRTAP10-6	NM_198688,p.C283Y|ENST00000400368,p.C283Y|uc002zfm.3,p.C283Y	protein_coding	uc002zfm.3	nonsynonymous SNV	exon1	c.G848A	p.C283Y	CVPVCSGASTSCCQQSSCQPACCTA	CVPVCSGASTSCYQQSSCQPACCTA	1.0	1.0	unscreened	-	4180_21:46011518-46011518 C>T_CVPVCSGASTSCYQQSSCQPACCTA
5:156533658-156533658 A>G	0.0	4180	BREAST	-	-	-	-	HAVCR2	uc003lwl.3,p.L125P	retained_intron, protein_coding, processed_transcript	uc003lwl.3	nonsynonymous SNV	exon2	c.T374C	p.L125P	QIPGIMNDEKFNLKLVIKPGEWTFA	QIPGIMNDEKFNPKLVIKPGEWTFA	8.0	4.0	unscreened	-	4180_5:156533658-156533658 A>G_QIPGIMNDEKFNPKLVIKPGEWTFA
18:6942128-6942128 A>G	0.0	4180	BREAST	-	-	-	-	LAMA1	NM_005559,p.F3060L|ENST00000389658,p.F3060L|uc002knm.3,p.F3060L|uc002knl.3,p.F513L|uc010wzj.2,p.F2536L|uc002knk.3,p.F390L	retained_intron, protein_coding	uc010wzj.2	nonsynonymous SNV	exon62	c.T7606C	p.F2536L	SPQVQSFDFSRAFELHGVFLHSCPG	SPQVQSFDFSRALELHGVFLHSCPG	3.0	9.0	unscreened	-	4180_18:6942128-6942128 A>G_SPQVQSFDFSRALELHGVFLHSCPG
7:44798965-44798965 C>-	0.0	4180	BREAST	-	-	-	-	ZMIZ2	uc003tlq.3,p.A268fs|ENST00000413916,p.A268fs|ENST00000265346,p.A300fs|uc003tls.3,p.A300fs|ENST00000309315,p.A300fs|NM_031449,p.A300fs|uc003tlr.3,p.A300fs|NM_174929,p.A300fs|ENST00000441627,p.A300fs|ENST00000433667,p.A268fs|NM_001300959,p.A268fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003tls.3	frameshift deletion	exon6	c.899delC	p.A300fs	TAQFAPSPGQPPAPSPSYPGHRLPL	TAQFAPSPGQPPAPPLPTLGTGCPCSRA	8.0	2.0	unscreened	-	4180_7:44798965-44798965 C>-_TAQFAPSPGQPPAPPLPTLGTGCPCSRA
16:55530876-55530876 T>C	0.0	4180	BREAST	-	-	-	-	MMP2	ENST00000543485,p.M428T|ENST00000219070,p.M504T|ENST00000437642,p.M454T|NM_004530,p.M504T|uc002ehz.4,p.M504T|uc010vhd.2,p.M428T|uc010ccc.3,p.M454T|ENST00000570308,p.M428T|ENST00000570283,p.M129T|NM_001127891,p.M454T	protein_coding, nonsense_mediated_decay	uc010vhd.2	nonsynonymous SNV	exon10	c.T1283C	p.M428T	FIWRTVTPRDKPMGPLLVATFWPEL	FIWRTVTPRDKPTGPLLVATFWPEL	9.0	10.0	unscreened	-	4180_16:55530876-55530876 T>C_FIWRTVTPRDKPTGPLLVATFWPEL
20:61937305-61937305 C>-	0.0	4180	BREAST	-	-	-	-	COL20A1	ENST00000422202,p.T137fs|ENST00000435874,p.T137fs	retained_intron, protein_coding, processed_transcript	ENST00000435874	frameshift deletion	exon5	c.410delC	p.T137fs	SQRPLGSGAPEPTPSHTGSPDPEQA	SQRPLGSGAPEPTPPTRGAQTLSRLLSPKLPSHQARIRALLVGQSGERPAPSSAACPPCLLTWSSWWTGPGALATVTSSRSRTSWPVSSHPLKSGRIRSK	1.0	8.0	unscreened	-	4180_20:61937305-61937305 C>-_SQRPLGSGAPEPTPPTRGAQTLSRLLSPKLPSHQARIRALLVGQSGERPAPSSAACPPCLLTWSSWWTGPGALATVTSSRSRTSWPVSSHPLKSGRIRSK
19:53856547-53856547 C>A	0.0	4180	BREAST	-	-	-	-	ZNF845	ENST00000595091,p.N873K|NM_138374,p.N873K|ENST00000458035,p.N873K|uc010ydw.1,p.N873K|uc010ydv.1,p.N873K	protein_coding	uc010ydw.1	nonsynonymous SNV	exon5	c.C2619A	p.N873K	CSECGKVFNRKANLSRHHRLHTGEK	CSECGKVFNRKAKLSRHHRLHTGEK	7.0	3.0	unscreened	-	4180_19:53856547-53856547 C>A_CSECGKVFNRKAKLSRHHRLHTGEK
2:25965973-25965973 T>C	0.0	4180	BREAST	-	-	-	2	ASXL2	NM_018263,p.N1078S|ENST00000435504,p.N1078S|ENST00000336112,p.N1050S|uc002rgs.2,p.N1078S	protein_coding, processed_transcript	uc002rgs.2	nonsynonymous SNV	exon12	c.A3233G	p.N1078S	ILQTLIQRVRRQNLLSVVPPSQFNF	ILQTLIQRVRRQSLLSVVPPSQFNF	7.0	2.0	unscreened	-	4180_2:25965973-25965973 T>C_ILQTLIQRVRRQSLLSVVPPSQFNF
6:10935323-10935323 A>G	1.0	4180	BREAST	-	-	-	-	SYCP2L	NM_001040274,p.I572M|ENST00000283141,p.I572M|uc010jow.3,p.I192M|uc003mzo.3,p.I572M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jow.3	nonsynonymous SNV	exon17	c.A576G	p.I192M	DQAKLLSPSEKEIPEQNNTTSPKTS	DQAKLLSPSEKEMPEQNNTTSPKTS	6.0	7.0	unscreened	-	4180_6:10935323-10935323 A>G_DQAKLLSPSEKEMPEQNNTTSPKTS
19:8212056-8212056 C>T	0.0	4180	BREAST	-	-	-	-	FBN3	ENST00000601739,p.G61D|uc002mjf.3,p.G61D|ENST00000270509,p.G61D|NM_032447,p.G61D|ENST00000600128,p.G61D	retained_intron, protein_coding	uc002mjf.3	nonsynonymous SNV	exon2	c.G182A	p.G61D	GSPGILQGPNVCGSRFHAYCCPGWR	GSPGILQGPNVCDSRFHAYCCPGWR	1.0	9.0	unscreened	-	4180_19:8212056-8212056 C>T_GSPGILQGPNVCDSRFHAYCCPGWR
20:61937305-61937305 C>-	0.0	4180	BREAST	-	-	-	-	COL20A1	ENST00000326996,p.T137fs|uc011aau.2,p.T137fs|ENST00000358894,p.T137fs|NM_020882,p.T137fs	retained_intron, protein_coding, processed_transcript	uc011aau.2	frameshift deletion	exon5	c.410delC	p.T137fs	SQRPLGSGAPEPTPSHTGSPDPEQA	SQRPLGSGAPEPTPPTRGAQTLSRLLSPKLPSHQARIRALLPAPSSAACPPCLLTWSSWWTGPGALATVTSSRSRTSWPVSSHPLKSGRIRSK	1.0	8.0	unscreened	-	4180_20:61937305-61937305 C>-_SQRPLGSGAPEPTPPTRGAQTLSRLLSPKLPSHQARIRALLPAPSSAACPPCLLTWSSWWTGPGALATVTSSRSRTSWPVSSHPLKSGRIRSK
4:66356313-66356313 C>T	0.0	4180	BREAST	-	-	-	-	EPHA5	NM_001281767,p.C395Y|uc011cai.2,p.C395Y|ENST00000511294,p.C395Y|NM_004439,p.C395Y|uc003hda.2,p.C395Y|uc003hcx.3,p.C326Y|ENST00000273854,p.C395Y|NM_001281766,p.C395Y|uc011cah.2,p.C395Y|uc003hcz.3,p.C395Y|ENST00000354839,p.C395Y|NM_001281765,p.C395Y|uc003hcy.3,p.C395Y|NM_182472,p.C395Y	protein_coding	uc011cai.2	nonsynonymous SNV	exon5	c.G1184A	p.C395Y	TGGRKDVSYYIACKKCNSHAGVCEE	TGGRKDVSYYIAYKKCNSHAGVCEE	1.0	10.0	unscreened	-	4180_4:66356313-66356313 C>T_TGGRKDVSYYIAYKKCNSHAGVCEE
14:71206710-71206710 A>G	0.0	4180	BREAST	-	-	-	-	MAP3K9	ENST00000553414,p.L274P|NM_001284232,p.L274P|NM_001284231,p.L317P|uc001xmk.3,p.L274P	retained_intron, protein_coding	uc001xmk.3	nonsynonymous SNV	exon6	c.T821C	p.L274P	SQISWGQNTQGHLSPALSSHRLVQA	SQISWGQNTQGHPSPALSSHRLVQA	6.0	4.0	unscreened	-	4180_14:71206710-71206710 A>G_SQISWGQNTQGHPSPALSSHRLVQA
14:51194423-51194423 C>A	0.0	4180	BREAST	-	-	-	1	NIN	uc001wyo.3,p.R2042M|NM_182944,p.R2042M|ENST00000453196,p.R2042M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wyo.3	nonsynonymous SNV	exon30	c.G6125T	p.R2042M	PEQRAVHADSYRRIGHL	PEQRAVHADSYRMIGHL	8.0	1.0	unscreened	-	4180_14:51194423-51194423 C>A_PEQRAVHADSYRMIGHL
1:33402619-33402619 T>C	1.0	4180	BREAST	-	-	-	-	RNF19B	NM_001300826,p.I662V|ENST00000373456,p.I663V|uc010ohp.2,p.I662V|uc010oho.2,p.I663V|NM_153341,p.I663V|ENST00000235150,p.I662V	protein_coding	uc010ohp.2	nonsynonymous SNV	exon9	c.A1984G	p.I662V	KPWDISLAQPESIRSDLESSDAQSD	KPWDISLAQPESVRSDLESSDAQSD	10.0	9.0	-	-	4180_1:33402619-33402619 T>C_KPWDISLAQPESVRSDLESSDAQSD
11:6191258-6191258 A>G	0.0	4180	BREAST	-	-	-	-	OR52B2	uc010qzy.2,p.V100A|ENST00000530810,p.V100A|NM_001004052,p.V100A	protein_coding	uc010qzy.2	nonsynonymous SNV	exon1	c.T299C	p.V100A	WLQAHNIAFDACVTQGFFVHMMFVG	WLQAHNIAFDACATQGFFVHMMFVG	1.0	1.0	unscreened	-	4180_11:6191258-6191258 A>G_WLQAHNIAFDACATQGFFVHMMFVG
X:3261744-3261744 C>T	0.0	4180	BREAST	-	-	-	-	MXRA5	ENST00000217939,p.R44Q|NM_015419,p.R44Q|uc004crg.4,p.R44Q	protein_coding	uc004crg.4	nonsynonymous SNV	exon2	c.G131A	p.R44Q	ACYVPSEVHCTFRSLASVPAGIAKH	ACYVPSEVHCTFQSLASVPAGIAKH	6.0	7.0	unscreened	-	4180_X:3261744-3261744 C>T_ACYVPSEVHCTFQSLASVPAGIAKH
15:49148154-49148154 T>C	0.0	4180	BREAST	-	-	-	-	SHC4	ENST00000557797,p.Y127C	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000557797	nonsynonymous SNV	exon5	c.A380G	p.Y127C	MAYCPIQCEKLCYLVMSIQEGCSPS	MAYCPIQCEKLCCLVMSIQEGCSPS	5.0	9.0	unscreened	-	4180_15:49148154-49148154 T>C_MAYCPIQCEKLCCLVMSIQEGCSPS
17:39411986-39411986 T>C	0.0	4180	BREAST	-	-	-	-	KRTAP9-9	uc021txh.1,p.Y117H|ENST00000394008,p.Y117H|NM_030975,p.Y117H	protein_coding	uc021txh.1	nonsynonymous SNV	exon1	c.T349C	p.Y117H	SCAPVYCRRTCYYPTTVCLPGCLNQ	SCAPVYCRRTCYHPTTVCLPGCLNQ	1.0	6.0	unscreened	-	4180_17:39411986-39411986 T>C_SCAPVYCRRTCYHPTTVCLPGCLNQ
3:52084983-52084983 G>A	0.0	4180	BREAST	-	-	-	-	DUSP7	uc003dct.3,p.P370S|ENST00000296483,p.P319S|NM_001947,p.P370S|ENST00000495880,p.P370S	protein_coding	uc003dct.3	nonsynonymous SNV	exon3	c.C1108T	p.P370S	YDFVKRKKSNISPNFNFMGQLLDFE	YDFVKRKKSNISSNFNFMGQLLDFE	6.0	3.0	unscreened	-	4180_3:52084983-52084983 G>A_YDFVKRKKSNISSNFNFMGQLLDFE
10:64974011-64974011 C>A	0.0	4180	BREAST	-	-	-	-	JMJD1C	uc009xpi.3,p.S457I|ENST00000542921,p.S457I|ENST00000399251,p.S420I|uc001jml.3,p.S420I|ENST00000402544,p.S420I|uc001jmp.1,p.S351I|uc001jmn.3,p.S639I|uc001jmm.3,p.S351I|NM_032776,p.S639I|uc010qiq.2,p.S457I|ENST00000399262,p.S639I|NM_001282948,p.S457I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qiq.2	nonsynonymous SNV	exon7	c.G1370T	p.S457I	LNTSVDTHKIKSSPSPEVVKPKITH	LNTSVDTHKIKSIPSPEVVKPKITH	8.0	7.0	unscreened	-	4180_10:64974011-64974011 C>A_LNTSVDTHKIKSIPSPEVVKPKITH
17:42426884-42426884 G>A	0.0	4180	BREAST	0.0014	-	ID=COSM88570;OCCURENCE=1(ovary),1(large_intestine)	-	GRN	ENST00000587387,p.V77I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000587387	nonsynonymous SNV	exon3	c.G229A	p.V77I	AHCSAGHSCIFTVSGTSSCCPFPEI	AHCSAGHSCIFTISGTSSCCPFPEI	10.0	3.0	unscreened	-	4180_17:42426884-42426884 G>A_AHCSAGHSCIFTISGTSSCCPFPEI
4:39847491-39847491 T>C	1.0	4180	BREAST	-	-	-	-	PDS5A	uc003guv.4,p.N1117D|ENST00000303538,p.N1117D|NM_001100399,p.N1117D	retained_intron, protein_coding, nonsense_mediated_decay	uc003guv.4	nonsynonymous SNV	exon29	c.A3349G	p.N1117D	MKFFTQPEKDFCNDKSYISEETRVL	MKFFTQPEKDFCDDKSYISEETRVL	8.0	10.0	unscreened	-	4180_4:39847491-39847491 T>C_MKFFTQPEKDFCDDKSYISEETRVL
14:104169608-104169608 T>C	0.0	4180	BREAST	-	-	-	-	XRCC3	NM_005432,p.M155V|NM_001100118,p.M155V|ENST00000554913,p.M155V|ENST00000352127,p.M155V|uc001yoa.4,p.M155V|uc001ynz.4,p.M155V|ENST00000553264,p.M155V|uc001yny.4,p.M155V|ENST00000555055,p.M155V|NM_001100119,p.M155V|uc001ynx.4,p.M155V|ENST00000445556,p.M155V	retained_intron, protein_coding, processed_transcript	uc001yoa.4	nonsynonymous SNV	exon7	c.A463G	p.M155V	EDAFPHKRLQQLMAQQPRLRTDVPG	EDAFPHKRLQQLVAQQPRLRTDVPG	8.0	6.0	unscreened	-	4180_14:104169608-104169608 T>C_EDAFPHKRLQQLVAQQPRLRTDVPG
3:51990654-51990654 G>A	0.0	4180	BREAST	-	-	-	-	GPR62	uc003dca.4,p.C329Y|ENST00000322241,p.C329Y|NM_080865,p.C329Y	protein_coding	uc003dca.4	nonsynonymous SNV	exon1	c.G986A	p.C329Y	TPQAWHPRALLQCLQRPPEGPAVGP	TPQAWHPRALLQYLQRPPEGPAVGP	1.0	4.0	unscreened	-	4180_3:51990654-51990654 G>A_TPQAWHPRALLQYLQRPPEGPAVGP
17:33801990-33801993 AAAC>-	0.0	4180	BREAST	-	-	-	-	SLFN12L	ENST00000449046,p.L603fs|uc021tuy.1,p.L572fs|ENST00000361112,p.L601fs|uc002hjn.3,p.L601fs|ENST00000260908,p.L572fs|NM_001195790,p.L572fs	retained_intron, protein_coding	uc021tuy.1	frameshift deletion	exon4	c.1716_1719del	p.L572fs	LPKENQIFLFVCLFRFCLFVCWFVC	LPKENQIFLFVCFVFVCLFVGLFVFS	5.0	8.0	unscreened	-	4180_17:33801990-33801993 AAAC>-_LPKENQIFLFVCFVFVCLFVGLFVFS
5:156908819-156908819 G>T	0.0	4180	BREAST	-	-	-	-	ADAM19	uc003lwy.3,p.L494M	retained_intron, protein_coding, nonsense_mediated_decay	uc003lwy.3	nonsynonymous SNV	exon11	c.C1480A	p.L494M	RPPGAGPQQSRPLAALAPKRVWKTC	RPPGAGPQQSRPMAALAPKRVWKTC	7.0	7.0	unscreened	-	4180_5:156908819-156908819 G>T_RPPGAGPQQSRPMAALAPKRVWKTC
2:169870001-169870001 G>A	0.0	4180	BREAST	-	-	-	-	ABCB11	ENST00000263817,p.T57I|uc002ueo.1,p.T57I|NM_003742,p.T57I	retained_intron, protein_coding, nonsense_mediated_decay	uc002ueo.1	nonsynonymous SNV	exon5	c.C170T	p.T57I	VGFFQLFRFSSSTDIWLMFVGSLCA	VGFFQLFRFSSSIDIWLMFVGSLCA	1.0	10.0	unscreened	-	4180_2:169870001-169870001 G>A_VGFFQLFRFSSSIDIWLMFVGSLCA
5:140732236-140732236 C>A	0.0	4180	BREAST	-	-	-	-	PCDHGB1	NM_032095,p.H803Q|uc011daq.2,p.H803Q	protein_coding	uc011daq.2	nonsynonymous SNV	exon1	c.C2409A	p.H803Q	DHKIAYDPSLSSHVSFCKSS	DHKIAYDPSLSSQVSFCKSS	4.0	3.0	unscreened	-	4180_5:140732236-140732236 C>A_DHKIAYDPSLSSQVSFCKSS
1:203194824-203194824 T>C	0.0	4180	BREAST	-	-	-	-	CHIT1	uc001gzn.2,p.Y77C|NM_003465,p.Y77C|ENST00000367229,p.Y77C|ENST00000503786,p.Y77C|uc009xal.2,p.Y77C|NM_001270509,p.Y77C|ENST00000491855,p.Y77C	protein_coding, processed_transcript, nonsense_mediated_decay	uc009xal.2	nonsynonymous SNV	exon3	c.A230G	p.Y77C	QLSTTEWNDETLYQEFNGLKKMNPK	QLSTTEWNDETLCQEFNGLKKMNPK	6.0	6.0	unscreened	-	4180_1:203194824-203194824 T>C_QLSTTEWNDETLCQEFNGLKKMNPK
20:60868945-60868945 G>T	1.0	4180	BREAST	-	-	-	-	OSBPL2	uc011aah.1,p.G349C|NM_001278649,p.G349C|ENST00000439951,p.G349C	protein_coding, processed_transcript	uc011aah.1	nonsynonymous SNV	exon13	c.G1045T	p.G349C	SGISPTAQISTEGLEGPGARDRRLT	SGISPTAQISTECLEGPGARDRRLT	8.0	6.0	unscreened	-	4180_20:60868945-60868945 G>T_SGISPTAQISTECLEGPGARDRRLT
2:27305818-27305818 ->G	0.0	4180	BREAST	-	-	-	-	EMILIN1	ENST00000380320,p.L460fs|uc002rii.4,p.L460fs|NM_007046,p.L460fs	protein_coding	uc002rii.4	frameshift insertion	exon4	c.1380dupG	p.L460fs	QLGGLLANVSGELGGRLDLLEEQVA	QLGGLLANVSGELGGAVGSVGGAGGRGHAGMRAALLWGPWGAGLSSQRDPQCLGAQGAGQ	8.0	6.0	unscreened	-	4180_2:27305818-27305818 ->G_QLGGLLANVSGELGGAVGSVGGAGGRGHAGMRAALLWGPWGAGLSSQRDPQCLGAQGAGQ
2:210893640-210893640 ->ATGTTATCTATGTTATCT	0.0	4180	BREAST	-	-	-	-	KANSL1L	uc002vdt.3,p.I733delinsIDNIDNI|ENST00000281772,p.I775delinsIDNIDNI|NM_152519,p.I775delinsIDNIDNI|ENST00000418791,p.I733delinsIDNIDNI|uc002vds.3,p.I775delinsIDNIDNI	retained_intron, protein_coding, processed_transcript	uc002vdt.3	nonframeshift insertion	exon10	c.2198_2199insAGATAACATAGATAACAT	p.I733delinsIDNIDNI	RLRSESSYDIDNIVIPMSLVAPAKL	RLRSESSYDIDNIDNIDNIVIPMSL	6.0	10.0	unscreened	-	4180_2:210893640-210893640 ->ATGTTATCTATGTTATCT_RLRSESSYDIDNIDNIDNIVIPMSL
5:156533658-156533658 A>G	0.0	4180	BREAST	-	-	-	-	HAVCR2	ENST00000522593,p.L125P	retained_intron, protein_coding, processed_transcript	ENST00000522593	nonsynonymous SNV	exon2	c.T374C	p.L125P	QIPGIMNDEKFNLKLVIKPAETQTL	QIPGIMNDEKFNPKLVIKPAETQTL	8.0	4.0	unscreened	-	4180_5:156533658-156533658 A>G_QIPGIMNDEKFNPKLVIKPAETQTL
2:96858201-96858201 A>G	1.0	4180	BREAST	-	-	-	-	STARD7	ENST00000337288,p.V250A|uc002svl.3,p.V28A|NM_020151,p.V250A|uc002svm.4,p.V250A	retained_intron, protein_coding, processed_transcript	uc002svm.4	nonsynonymous SNV	exon6	c.T749C	p.V250A	QENNMMVLVSRAVEHPSVPESPEFV	QENNMMVLVSRAAEHPSVPESPEFV	9.0	6.0	unscreened	-	4180_2:96858201-96858201 A>G_QENNMMVLVSRAAEHPSVPESPEFV
17:76795021-76795021 T>C	0.0	4180	BREAST	-	-	-	-	USP36	ENST00000312010,p.D1070G|ENST00000589225,p.D1070G|uc002jwa.1,p.D1070G|uc002jvz.1,p.D1070G|ENST00000449938,p.D675G|NM_025090,p.D1070G|uc002jvy.1,p.D130G|ENST00000542802,p.D1070G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay	uc002jwa.1	nonsynonymous SNV	exon19	c.A3209G	p.D1070G	EDSRQARTETVVDDWDEEFDRGKEK	EDSRQARTETVVGDWDEEFDRGKEK	9.0	1.0	unscreened	-	4180_17:76795021-76795021 T>C_EDSRQARTETVVGDWDEEFDRGKEK
3:169485809-169485809 A>G	0.0	4180	BREAST	-	-	-	-	ACTRT3	NM_032487,p.L177P|ENST00000330368,p.L177P|uc003ffs.2,p.L177P	protein_coding	uc003ffs.2	nonsynonymous SNV	exon2	c.T530C	p.L177P	FEGYCLPHGVQQLDLAGLDLTNYLM	FEGYCLPHGVQQPDLAGLDLTNYLM	6.0	5.0	unscreened	-	4180_3:169485809-169485809 A>G_FEGYCLPHGVQQPDLAGLDLTNYLM
19:54080296-54080296 G>T	0.0	4180	BREAST	-	-	-	1	ZNF331	NM_018555,p.C161F|ENST00000253144,p.C161F|NM_001253800,p.C161F|uc002qcc.1,p.C161F|uc002qbz.1,p.C161F|uc010eqr.1,p.C161F|NM_001079906,p.C161F|uc002qcd.1,p.C161F|uc002qby.1,p.C161F|ENST00000513999,p.C161F|ENST00000511593,p.C161F|uc021uzh.1,p.C161F|uc002qcb.1,p.C161F|uc002qbx.1,p.C161F|uc002qca.1,p.C161F|ENST00000411977,p.C161F|ENST00000511154,p.C161F|uc021uzg.1,p.C161F|NM_001253798,p.C161F|ENST00000505949,p.C161F|NM_001253801,p.C161F|ENST00000512387,p.C161F|NM_001253799,p.C161F|ENST00000449416,p.C161F|NM_001079907,p.C161F	retained_intron, protein_coding, processed_transcript	uc021uzh.1	nonsynonymous SNV	exon6	c.G482T	p.C161F	HQKIHTGEKPYECKECKKAFRWGNQ	HQKIHTGEKPYEFKECKKAFRWGNQ	7.0	1.0	unscreened	-	4180_19:54080296-54080296 G>T_HQKIHTGEKPYEFKECKKAFRWGNQ
7:63808982-63808982 C>A	0.0	4180	BREAST	-	-	-	-	ZNF736	ENST00000355095,p.H247Q|ENST00000423484,p.H247Q|uc011kdo.2,p.H247Q|NM_001170905,p.H247Q	retained_intron, protein_coding, processed_transcript	uc011kdo.2	nonsynonymous SNV	exon5	c.C741A	p.H247Q	GKTFTCSSTLVKHKRNHTGDRPYKC	GKTFTCSSTLVKQKRNHTGDRPYKC	5.0	3.0	unscreened	-	4180_7:63808982-63808982 C>A_GKTFTCSSTLVKQKRNHTGDRPYKC
14:96829267-96829267 T>C	0.0	4180	BREAST	-	-	-	-	ATG2B	uc001yfi.3,p.Y16C|ENST00000359933,p.Y16C|NM_018036,p.Y16C	retained_intron, protein_coding, processed_transcript	uc001yfi.3	nonsynonymous SNV	exon1	c.A47G	p.Y16C	PFSESIKKRACRYLLQRYLGHFLQE	PFSESIKKRACRCLLQRYLGHFLQE	5.0	4.0	unscreened	-	4180_14:96829267-96829267 T>C_PFSESIKKRACRCLLQRYLGHFLQE
11:134090566-134090566 G>A	0.0	4180	BREAST	-	-	-	-	NCAPD3	ENST00000533155,p.P40L|ENST00000534532,p.P40L|ENST00000525485,p.P40L|uc001qhd.1,p.P40L|NM_015261,p.P40L|ENST00000525964,p.P40L|ENST00000534548,p.P40L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001qhd.1	nonsynonymous SNV	exon2	c.C119T	p.P40L	WELDFTETEPLDPSIEAEIIETGLA	WELDFTETEPLDLSIEAEIIETGLA	7.0	1.0	unscreened	-	4180_11:134090566-134090566 G>A_WELDFTETEPLDLSIEAEIIETGLA
14:24880646-24880646 T>C	0.0	4180	BREAST	-	-	-	-	NYNRIN	uc001wpf.4,p.Y878H|ENST00000382554,p.Y878H|NM_025081,p.Y878H	protein_coding, processed_transcript	uc001wpf.4	nonsynonymous SNV	exon6	c.T2632C	p.Y878H	PSQLENGKKITTYDYRFMVKLAEET	PSQLENGKKITTHDYRFMVKLAEET	4.0	10.0	unscreened	-	4180_14:24880646-24880646 T>C_PSQLENGKKITTHDYRFMVKLAEET
9:114290066-114290066 A>G	0.0	4180	BREAST	-	-	-	-	ZNF483	uc010mud.1,p.T131A|ENST00000374374,p.T131A	protein_coding	uc010mud.1	nonsynonymous SNV	exon2	c.A391G	p.T131A	SSEEVVTLIEDLTQMLEEKGEIYRW	SSEEVVTLIEDLAQMLEEKGEIYRW	4.0	1.0	unscreened	-	4180_9:114290066-114290066 A>G_SSEEVVTLIEDLAQMLEEKGEIYRW
22:29445791-29445791 G>A	1.0	4180	BREAST	-	-	-	2	ZNRF3	ENST00000332811,p.G441D|NM_001206998,p.G541D|uc003aeg.3,p.G541D|NM_032173,p.G441D|ENST00000406323,p.G441D|uc021wnq.1,p.G441D|ENST00000544604,p.G541D|ENST00000402174,p.G441D	protein_coding	uc021wnq.1	nonsynonymous SNV	exon8	c.G1322A	p.G441D	FSCYHGHRSVCSGYLADCPGSDSSS	FSCYHGHRSVCSDYLADCPGSDSSS	6.0	8.0	unscreened	-	4180_22:29445791-29445791 G>A_FSCYHGHRSVCSDYLADCPGSDSSS
7:87537039-87537039 A>G	0.0	4180	BREAST	-	-	-	-	DBF4	ENST00000265728,p.H529R|uc011khf.1,p.H296R|NM_006716,p.H529R|uc003ujh.1,p.H269R|uc003ujg.1,p.H305R|uc003ujf.1,p.H529R	retained_intron, protein_coding, nonsense_mediated_decay	uc011khf.1	nonsynonymous SNV	exon11	c.A887G	p.H296R	DLKEKDLHSIFTHDSGLITINSSQE	DLKEKDLHSIFTRDSGLITINSSQE	9.0	4.0	unscreened	-	4180_7:87537039-87537039 A>G_DLKEKDLHSIFTRDSGLITINSSQE
15:38757577-38757579 AAG>-	0.0	4180	BREAST	-	-	-	-	FAM98B	ENST00000397609,p.109_109del|uc001zkb.1,p.109_109del|ENST00000491535,p.109_109del|uc001zkc.3,p.109_109del|NM_173611,p.109_109del	retained_intron, protein_coding	uc001zkc.3	nonframeshift deletion	exon3	c.325_327del	p.109_109del	VLISGDIKDRLKKKEDCLKLLLFLS	VLISGDIKDRLKKEDCLKLLLFLST	7.0	7.0	unscreened	-	4180_15:38757577-38757579 AAG>-_VLISGDIKDRLKKEDCLKLLLFLST
19:41173993-41173993 G>A	1.0	4180	BREAST	-	-	-	-	NUMBL	NM_001289980,p.P363S|NM_004756,p.P404S|uc002oon.3,p.P404S|uc010xvr.2,p.P363S|uc002ooo.3,p.P403S|ENST00000252891,p.P404S|ENST00000598779,p.P363S|uc010xvq.2,p.P363S|ENST00000540131,p.P363S|NM_001289979,p.P363S	retained_intron, protein_coding, processed_transcript	uc010xvr.2	nonsynonymous SNV	exon9	c.C1087T	p.P363S	GEPSVPPAAAFQPGHKRTPSEAERW	GEPSVPPAAAFQSGHKRTPSEAERW	9.0	6.0	unscreened	-	4180_19:41173993-41173993 G>A_GEPSVPPAAAFQSGHKRTPSEAERW
2:105472249-105472249 C>T	0.0	4180	BREAST	-	-	-	-	POU3F3	uc010ywg.2,p.A94V|NM_006236,p.A94V|ENST00000361360,p.A94V	protein_coding	uc010ywg.2	nonsynonymous SNV	exon1	c.C281T	p.A94V	MAASNGGHMLSHAHQWVTALPHAAA	MAASNGGHMLSHVHQWVTALPHAAA	1.0	10.0	unscreened	-	4180_2:105472249-105472249 C>T_MAASNGGHMLSHVHQWVTALPHAAA
16:67188640-67188640 C>T	0.0	4180	BREAST	0.0005	-	ID=COSM3377926;OCCURENCE=2(pancreas)	-	TRADD	NM_003789,p.R284H|uc002erh.1,p.R224H|ENST00000486556,p.R224H|uc002eri.1,p.R284H|ENST00000345057,p.R284H	retained_intron, protein_coding, processed_transcript	uc002eri.1	nonsynonymous SNV	exon5	c.G851A	p.R284H	FVQAEGRRATLQRLVEALEENELTS	FVQAEGRRATLQHLVEALEENELTS	8.0	5.0	unscreened	-	4180_16:67188640-67188640 C>T_FVQAEGRRATLQHLVEALEENELTS
20:49508204-49508204 T>-	1.0	4180	BREAST	-	-	ID=COSM1163731;OCCURENCE=2(stomach),3(pancreas),9(large_intestine)	-	ADNP	ENST00000349014,p.K1016fs|ENST00000371602,p.K1016fs|NM_001282531,p.K1016fs|uc002xvt.1,p.K1016fs|NM_001282532,p.K1016fs|NM_015339,p.K1016fs|uc002xvu.1,p.K1016fs|ENST00000396032,p.K1016fs|NM_181442,p.K1016fs|ENST00000396029,p.K1016fs	protein_coding	uc002xvu.1	frameshift deletion	exon4	c.3047delA	p.K1016fs	EDARSSKPAAKKKATMQGDREQLKW	EDARSSKPAAKKRLPCKVTESS	8.0	1.0	unscreened	-	4180_20:49508204-49508204 T>-_EDARSSKPAAKKRLPCKVTESS
1:22204731-22204731 C>T	0.0	4180	BREAST	-	-	-	-	HSPG2	uc009vqd.3,p.R879H|NM_005529,p.R878H|NM_001291860,p.R879H|ENST00000374695,p.R878H|uc001bfj.3,p.R878H	protein_coding, processed_transcript, nonsense_mediated_decay	uc009vqd.3	nonsynonymous SNV	exon21	c.G2636A	p.R879H	GGKCRPVNQEIVRCDERGSMGTSGE	GGKCRPVNQEIVHCDERGSMGTSGE	8.0	1.0	unscreened	-	4180_1:22204731-22204731 C>T_GGKCRPVNQEIVHCDERGSMGTSGE
X:67943520-67943520 C>-	0.0	4180	BREAST	-	-	-	-	STARD8	uc004dxb.3,p.A951fs|ENST00000374597,p.A871fs|NM_014725,p.A871fs|uc004dxc.4,p.A871fs|NM_001142503,p.A951fs|ENST00000374599,p.A951fs|uc004dxa.3,p.A871fs|NM_001142504,p.A871fs|ENST00000252336,p.A871fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc004dxc.4	frameshift deletion	exon12	c.2612delC	p.A871fs	PLRLWKASTEVAAPPAVVLHRVLRE	PLRLWKASTEVAAPQLWCCIVFSGSGPSGMRICCGPRCWKP	5.0	4.0	unscreened	-	4180_X:67943520-67943520 C>-_PLRLWKASTEVAAPQLWCCIVFSGSGPSGMRICCGPRCWKP
1:52849542-52849542 C>T	0.0	4180	BREAST	-	-	-	-	ORC1	NM_004153,p.R608Q|NM_001190819,p.R603Q|ENST00000371568,p.R608Q|uc001ctu.3,p.R608Q|NM_001190818,p.R608Q|uc001ctt.3,p.R608Q|uc010oni.2,p.R603Q|ENST00000371566,p.R608Q	protein_coding, processed_transcript	uc010oni.2	nonsynonymous SNV	exon12	c.G1808A	p.R603Q	HAAELLAKQFCTRGSPQETTVLLVD	HAAELLAKQFCTQGSPQETTVLLVD	8.0	1.0	unscreened	-	4180_1:52849542-52849542 C>T_HAAELLAKQFCTQGSPQETTVLLVD
12:57865407-57865407 G>T	0.0	4180	BREAST	-	-	-	2	GLI1	uc021qzi.1,p.G921C|ENST00000546141,p.G921C|ENST00000228682,p.G962C|NM_005269,p.G962C|ENST00000543426,p.G834C|NM_001167609,p.G921C|uc009zpq.3,p.G834C|NM_001160045,p.G834C|uc001snx.3,p.G962C|ENST00000528467,p.G921C	retained_intron, protein_coding	uc021qzi.1	nonsynonymous SNV	exon11	c.G2761T	p.G921C	PGFGPNLPNHKSGSYPTPSPCHENF	PGFGPNLPNHKSCSYPTPSPCHENF	4.0	1.0	unscreened	-	4180_12:57865407-57865407 G>T_PGFGPNLPNHKSCSYPTPSPCHENF
5:156533658-156533658 A>G	0.0	4180	BREAST	-	-	-	-	HAVCR2	uc003lwk.2,p.L125P|NM_032782,p.L125P|ENST00000307851,p.L125P	retained_intron, protein_coding, processed_transcript	uc003lwk.2	nonsynonymous SNV	exon2	c.T374C	p.L125P	QIPGIMNDEKFNLKLVIKPAKVTPA	QIPGIMNDEKFNPKLVIKPAKVTPA	8.0	4.0	unscreened	-	4180_5:156533658-156533658 A>G_QIPGIMNDEKFNPKLVIKPAKVTPA
1:7804914-7804914 C>T	0.0	4180	BREAST	-	-	-	1	CAMTA1	uc001aoj.3,p.A357V|ENST00000303635,p.A1401V|NM_015215,p.A1401V|uc001aok.4,p.A444V|uc001aoi.3,p.A1401V|uc010nzv.1,p.A488V|ENST00000439411,p.A1401V	protein_coding, processed_transcript, nonsense_mediated_decay	uc010nzv.1	nonsynonymous SNV	exon8	c.C1463T	p.A488V	PMDDIQVNMMTLAEHIIEATPDRIK	PMDDIQVNMMTLVEHIIEATPDRIK	10.0	8.0	unscreened	-	4180_1:7804914-7804914 C>T_PMDDIQVNMMTLVEHIIEATPDRIK
7:2974249-2974249 G>C	0.0	4180	BREAST	-	-	-	1	CARD11	NM_032415,p.N452K|ENST00000396946,p.N452K|uc003smv.3,p.N452K	retained_intron, protein_coding	uc003smv.3	nonsynonymous SNV	exon10	c.C1356G	p.N452K	KDSNNLDQSLPRNLPVTIISQDFGD	KDSNNLDQSLPRKLPVTIISQDFGD	6.0	10.0	unscreened	-	4180_7:2974249-2974249 G>C_KDSNNLDQSLPRKLPVTIISQDFGD
3:189690677-189690677 C>T	0.0	4180	BREAST	-	-	ID=COSM1421628;OCCURENCE=1(large_intestine)	-	LEPREL1	uc011bsk.2,p.R562Q|NM_018192,p.R562Q|NM_001134418,p.R381Q|uc003fsg.3,p.R381Q|ENST00000427335,p.R381Q|ENST00000319332,p.R562Q	retained_intron, protein_coding	uc011bsk.2	nonsynonymous SNV	exon11	c.G1685A	p.R562Q	STLYFSYTHMVCRTALSGQQDRRND	STLYFSYTHMVCQTALSGQQDRRND	6.0	2.0	unscreened	-	4180_3:189690677-189690677 C>T_STLYFSYTHMVCQTALSGQQDRRND
2:220046969-220046969 C>-	1.0	4180	BREAST	-	-	-	-	FAM134A	uc002vjx.3,p.S210fs|ENST00000430297,p.S417fs|uc010fwc.3,p.S210fs|uc002vjw.4,p.S417fs|NM_024293,p.S417fs	retained_intron, protein_coding, nonsense_mediated_decay	uc010fwc.3	frameshift deletion	exon9	c.629delC	p.S210fs	LHFVNTHFNGAGSPPDGVKCSPGGP	LHFVNTHFNGAGSPQME	10.0	5.0	unscreened	-	4180_2:220046969-220046969 C>-_LHFVNTHFNGAGSPQME
12:57348756-57348756 A>G	0.0	4180	BREAST	-	-	-	-	RDH16	uc001smi.4,p.V169A|ENST00000398138,p.V169A|NM_003708,p.V169A	protein_coding, processed_transcript	uc001smi.4	nonsynonymous SNV	exon2	c.T506C	p.V169A	GRVVNVSSVMGRVSLFGGGYCISKY	GRVVNVSSVMGRASLFGGGYCISKY	4.0	2.0	unscreened	-	4180_12:57348756-57348756 A>G_GRVVNVSSVMGRASLFGGGYCISKY
15:75917121-75917121 T>-	0.0	4180	BREAST	-	-	-	-	SNUPN	uc002bap.3,p.N19fs|ENST00000371091,p.N19fs	retained_intron, protein_coding	uc002bap.3	frameshift deletion	exon2	c.56delA	p.N19fs	LGNKSETLSQKKNNNNKEKTKRNSR	LGNKSETLSQKKTTTTKKKQNETAGTRQEQP	9.0	9.0	unscreened	-	4180_15:75917121-75917121 T>-_LGNKSETLSQKKTTTTKKKQNETAGTRQEQP
1:153907279-153907281 CTG>-	1.0	4180	BREAST	-	-	-	-	DENND4B	NM_014856,p.910_910del|ENST00000361217,p.910_910del|uc001fdd.1,p.910_910del	retained_intron, protein_coding, processed_transcript	uc001fdd.1	nonframeshift deletion	exon18	c.2728_2730del	p.910_910del	QQQQQQQQQQQQQEQVSAHQEAGSS	QQQQQQQQQQQQEQVSAHQEAGSSQ	8.0	2.0	unscreened	-	4180_1:153907279-153907281 CTG>-_QQQQQQQQQQQQEQVSAHQEAGSSQ
22:18065368-18065368 C>T	0.0	4180	BREAST	-	-	-	-	SLC25A18	uc002zmp.1,p.A80V|uc010gqx.3,p.A80V|ENST00000399813,p.A80V|NM_031481,p.A80V|ENST00000327451,p.A80V|uc002zmq.1,p.A80V	retained_intron, protein_coding, processed_transcript	uc010gqx.3	nonsynonymous SNV	exon5	c.C239T	p.A80V	AAVNLTLVTPEKAIKLAANDFFRRL	AAVNLTLVTPEKVIKLAANDFFRRL	1.0	10.0	unscreened	-	4180_22:18065368-18065368 C>T_AAVNLTLVTPEKVIKLAANDFFRRL
19:53014116-53014116 A>G	0.0	4180	BREAST	-	-	-	-	ZNF578	ENST00000421239,p.H161R|NM_001099694,p.H161R|uc002pzp.4,p.H161R|ENST00000601120,p.H161R	protein_coding, processed_transcript	uc002pzp.4	nonsynonymous SNV	exon6	c.A482G	p.H161R	NKPIKDQLGLSFHLHLPELHIFQPE	NKPIKDQLGLSFRLHLPELHIFQPE	1.0	1.0	unscreened	-	4180_19:53014116-53014116 A>G_NKPIKDQLGLSFRLHLPELHIFQPE
12:120128137-120128137 C>T	0.0	4180	BREAST	-	-	-	-	CIT	NM_001206999,p.R2002H|ENST00000261833,p.R1960H|uc001txi.2,p.R1960H|ENST00000392521,p.R2002H|NM_007174,p.R1960H|uc001txj.2,p.R2002H|uc001txh.2,p.R1478H	retained_intron, protein_coding, processed_transcript	uc001txj.2	nonsynonymous SNV	exon47	c.G6005A	p.R2002H	SHPREPSTPHRYREGRTELRRDKSP	SHPREPSTPHRYHEGRTELRRDKSP	7.0	6.0	unscreened	-	4180_12:120128137-120128137 C>T_SHPREPSTPHRYHEGRTELRRDKSP
X:69263091-69263091 C>-	0.0	4180	BREAST	-	-	-	-	AWAT2	uc004dxt.1,p.A159fs|NM_001002254,p.A159fs|ENST00000440401,p.A37fs|ENST00000276101,p.A159fs	retained_intron, protein_coding, nonsense_mediated_decay	uc004dxt.1	frameshift deletion	exon5	c.475delG	p.A159fs	MPFLREYVMSTGACSVSRSSIDFLL	MPFLREYVMSTGPAL	3.0	3.0	unscreened	-	4180_X:69263091-69263091 C>-_MPFLREYVMSTGPAL
19:42383182-42383182 C>T	0.0	4180	BREAST	-	-	-	1	CD79A	ENST00000597454,p.R68C|NM_021601,p.R68C|ENST00000444740,p.R68C|uc002oru.3,p.R68C|NM_001783,p.R68C|uc002orv.3,p.R68C|ENST00000221972,p.R68C	protein_coding	uc002orv.3	nonsynonymous SNV	exon2	c.C202T	p.R68C	HNSSNNANVTWWRVLHGNYTWPPEF	HNSSNNANVTWWCVLHGNYTWPPEF	8.0	6.0	unscreened	-	4180_19:42383182-42383182 C>T_HNSSNNANVTWWCVLHGNYTWPPEF
6:33385920-33385920 G>A	0.0	4180	BREAST	-	-	-	-	CUTA	ENST00000374500,p.P15S|uc003oen.1,p.P15S|NM_001014433,p.P15S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003oen.1	nonsynonymous SNV	exon1	c.C43T	p.P15S	GSGLAGSGGAGGPSSTVTWCALFSN	GSGLAGSGGAGGSSSTVTWCALFSN	10.0	5.0	unscreened	-	4180_6:33385920-33385920 G>A_GSGLAGSGGAGGSSSTVTWCALFSN
2:179593858-179593858 T>C	0.0	4180	BREAST	-	-	-	-	TTN	NM_001267550,p.T6303A|NM_001256850,p.T5986A|uc031rqd.1,p.T5986A|NM_133378,p.T5059A|ENST00000342992,p.T5059A|ENST00000589042,p.T6303A|uc031rqc.1,p.T6303A|uc002umz.1,p.T1720A|uc021vsy.2,p.T5059A|ENST00000591111,p.T5986A	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon63	c.A17956G	p.T5986A	PPSFIKKIENTTTVLKSSATFQSTV	PPSFIKKIENTTAVLKSSATFQSTV	2.0	3.0	unscreened	-	4180_2:179593858-179593858 T>C_PPSFIKKIENTTAVLKSSATFQSTV
19:46094749-46094749 C>T	0.0	4180	BREAST	-	-	-	-	GPR4	ENST00000323040,p.A126T|uc002pcm.3,p.A126T|uc021uvw.1,p.A126T|NM_005282,p.A126T	protein_coding, processed_transcript	uc021uvw.1	nonsynonymous SNV	exon1	c.G376A	p.A126T	DRYLAVAHPLRFARLRRVKTAVAVS	DRYLAVAHPLRFTRLRRVKTAVAVS	4.0	10.0	unscreened	-	4180_19:46094749-46094749 C>T_DRYLAVAHPLRFTRLRRVKTAVAVS
12:5021722-5021722 C>G	0.0	4180	BREAST	-	-	-	-	KCNA1	uc001qnh.3,p.A393G|uc021qts.1,p.A393G|NM_000217,p.A393G|ENST00000382545,p.A393G	protein_coding, processed_transcript	uc021qts.1	nonsynonymous SNV	exon1	c.C1178G	p.A393G	VTIGGKIVGSLCAIAGVLTIALPVP	VTIGGKIVGSLCGIAGVLTIALPVP	1.0	10.0	unscreened	-	4180_12:5021722-5021722 C>G_VTIGGKIVGSLCGIAGVLTIALPVP
7:54617844-54617844 ->A	0.0	4180	BREAST	-	-	-	-	VSTM2A	NM_001301009,p.P205fs|ENST00000402613,p.P205fs	retained_intron, protein_coding, processed_transcript	NM_001301009	frameshift insertion	exon4	c.616dupA	p.P205fs	HSTSSPQVVAKIPKQSPQSAKSKSP	HSTSSPQVVAKIPKTKSTISKEQIACKIYGADSKVDPKLQAPPCTHCTL	1.0	2.0	unscreened	-	4180_7:54617844-54617844 ->A_HSTSSPQVVAKIPKTKSTISKEQIACKIYGADSKVDPKLQAPPCTHCTL
18:59221870-59221870 G>A	0.0	4180	BREAST	-	-	-	-	CDH20	ENST00000538374,p.R783H|uc002lif.2,p.R777H|ENST00000262717,p.R783H|uc010dps.1,p.R783H|NM_031891,p.R783H|ENST00000536675,p.R783H	protein_coding	uc010dps.1	nonsynonymous SNV	exon11	c.G2348A	p.R783H	EQSFDFLTDWGPRFRKLAELYGASE	EQSFDFLTDWGPHFRKLAELYGASE	1.0	1.0	unscreened	-	4180_18:59221870-59221870 G>A_EQSFDFLTDWGPHFRKLAELYGASE
22:26173632-26173632 G>A	0.0	4180	BREAST	-	-	-	-	MYO18B	ENST00000536101,p.R651Q|ENST00000335473,p.R651Q|uc010guz.1,p.R532Q|NM_032608,p.R651Q|uc003abz.1,p.R651Q|uc010guy.1,p.R532Q|ENST00000407587,p.R651Q|uc003aca.1,p.R532Q|uc011akb.1,p.R164Q|ENST00000539302,p.R651Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011akb.1	nonsynonymous SNV	exon4	c.G491A	p.R164Q	MAQRAYWALLNQRRDQSIVALGWSG	MAQRAYWALLNQQRDQSIVALGWSG	1.0	5.0	unscreened	-	4180_22:26173632-26173632 G>A_MAQRAYWALLNQQRDQSIVALGWSG
17:77705082-77705082 G>T	0.0	4180	BREAST	-	-	-	-	ENPP7	NM_178543,p.G61W|uc002jxa.3,p.G61W|ENST00000328313,p.G61W	protein_coding	uc002jxa.3	nonsynonymous SNV	exon1	c.G181T	p.G61W	VDTPNLDAMARDGVKARYMTPAFVT	VDTPNLDAMARDWVKARYMTPAFVT	1.0	7.0	unscreened	-	4180_17:77705082-77705082 G>T_VDTPNLDAMARDWVKARYMTPAFVT
1:4772478-4772478 G>-	0.0	4180	BREAST	-	-	-	-	AJAP1	uc001aln.3,p.W183fs|NM_001042478,p.W183fs|ENST00000378190,p.W183fs|ENST00000378191,p.W183fs|NM_018836,p.W183fs|uc001alm.1,p.W183fs	protein_coding, processed_transcript	uc001aln.3	frameshift deletion	exon2	c.548delG	p.W183fs	GSRPTTETEFIAWGPTGDEEALESN	GSRPTTETEFIAWGPRGTRRPWSPTHFRAFTAPPRSPSYKHGRQLWPPPPPPPPRPPP	2.0	5.0	unscreened	-	4180_1:4772478-4772478 G>-_GSRPTTETEFIAWGPRGTRRPWSPTHFRAFTAPPRSPSYKHGRQLWPPPPPPPPRPPP
14:55454100-55454100 A>G	0.0	4180	BREAST	-	-	-	-	WDHD1	ENST00000359167,p.L29P|uc010aom.2,p.L28P	retained_intron, protein_coding, nonsense_mediated_decay	uc010aom.2	nonsynonymous SNV	exon2	c.T83C	p.L28P	LHRCISLTDSCKLHCLHFSSWDSSK	LHRCISLTDSCKPHCLHFSSWDSSK	7.0	7.0	unscreened	-	4180_14:55454100-55454100 A>G_LHRCISLTDSCKPHCLHFSSWDSSK
11:2434055-2434055 G>-	0.0	4180	BREAST	-	-	ID=COSM1353267;OCCURENCE=1(large_intestine)	-	TRPM5	uc010qxl.2,p.Q762fs|uc001lwm.4,p.Q762fs|ENST00000533060,p.Q762fs|ENST00000452833,p.Q764fs|ENST00000533881,p.Q756fs|ENST00000155858,p.Q762fs|uc009ydn.3,p.Q764fs|ENST00000528453,p.Q762fs|NM_014555,p.Q762fs	protein_coding	uc010qxl.2	frameshift deletion	exon15	c.2284delC	p.Q762fs	TYVLLVDFRPPPQGPSGPEVTLYFW	TYVLLVDFRPPPRAPQGPRSPSTSGSLRWCWRKSGRASSQTRTHTW	1.0	2.0	unscreened	-	4180_11:2434055-2434055 G>-_TYVLLVDFRPPPRAPQGPRSPSTSGSLRWCWRKSGRASSQTRTHTW
16:4731683-4731683 G>T	0.0	4180	BREAST	-	-	-	-	MGRN1	ENST00000415496,p.G401C|ENST00000587747,p.G461C|ENST00000586183,p.G400C|ENST00000262370,p.G422C|NM_015246,p.G422C|NM_001142291,p.G400C|uc010uxo.2,p.G400C|uc002cxa.3,p.G422C|ENST00000588994,p.G400C|uc010uxp.2,p.G400C|ENST00000399577,p.G422C|uc002cwz.3,p.G422C|NM_001142290,p.G422C|NM_001142289,p.G400C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uxp.2	nonsynonymous SNV	exon12	c.G1198T	p.G400C	LYEEITYSGISDGLSQASCPLAAID	LYEEITYSGISDCLSQASCPLAAID	8.0	2.0	unscreened	-	4180_16:4731683-4731683 G>T_LYEEITYSGISDCLSQASCPLAAID
10:51769588-51769588 G>A	1.0	4180	BREAST	-	-	-	-	AGAP6	ENST00000412531,p.R568H|uc001jix.4,p.R568H|ENST00000374056,p.R545H|NM_001077665,p.R568H	protein_coding	uc001jix.4	nonsynonymous SNV	exon8	c.G1703A	p.R568H	EKSTREEKERWIRSKYEEKLFLAPL	EKSTREEKERWIHSKYEEKLFLAPL	5.0	7.0	unscreened	-	4180_10:51769588-51769588 G>A_EKSTREEKERWIHSKYEEKLFLAPL
9:107546615-107546615 A>G	0.0	4180	BREAST	-	-	-	-	ABCA1	uc004bcl.3,p.V2256A|ENST00000374736,p.V2256A|NM_005502,p.V2256A	protein_coding, processed_transcript	uc004bcl.3	nonsynonymous SNV	exon50	c.T6767C	p.V2256A	VAVLTSFLQDEKVKESYV	VAVLTSFLQDEKAKESYV	6.0	9.0	unscreened	-	4180_9:107546615-107546615 A>G_VAVLTSFLQDEKAKESYV
17:10265563-10265563 A>C	0.0	4180	BREAST	-	-	-	-	MYH13	ENST00000418404,p.V126G|ENST00000252172,p.V126G|ENST00000570743,p.V126G|uc002gmk.1,p.V126G|NM_003802,p.V126G	protein_coding	uc002gmk.1	nonsynonymous SNV	exon5	c.T377G	p.V126G	MIYTYSGLFCVTVNPYKWLPVYKPE	MIYTYSGLFCVTGNPYKWLPVYKPE	1.0	7.0	unscreened	-	4180_17:10265563-10265563 A>C_MIYTYSGLFCVTGNPYKWLPVYKPE
5:10973707-10973707 C>T	0.0	4180	BREAST	-	-	-	2	CTNND2	NM_001288715,p.R1088H|ENST00000458100,p.R746H|uc011cmy.1,p.R842H|NM_001288717,p.R746H|uc003jfa.1,p.R1179H|ENST00000503622,p.R842H|ENST00000359640,p.R1121H|ENST00000511377,p.R1088H|uc011cmx.1,p.R771H|NM_001288716,p.R842H|uc011cmz.1,p.R746H|uc010itt.2,p.R1088H|NM_001332,p.R1179H|ENST00000304623,p.R1179H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cmz.1	nonsynonymous SNV	exon21	c.G2237A	p.R746H	YDESFFEDQVHHRPPASEYTMHLGL	YDESFFEDQVHHHPPASEYTMHLGL	1.0	8.0	unscreened	-	4180_5:10973707-10973707 C>T_YDESFFEDQVHHHPPASEYTMHLGL
1:8716255-8716255 A>T	1.0	4180	BREAST	-	-	ID=COSM912825;OCCURENCE=1(endometrium)	-	RERE	uc001aph.1,p.N34K|NM_001042681,p.N34K|uc001ape.3,p.N34K|NM_012102,p.N34K|uc001apf.3,p.N34K|ENST00000400907,p.N34K|ENST00000400908,p.N34K|ENST00000337907,p.N34K	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc001aph.1	nonsynonymous SNV	exon2	c.T102A	p.N34K	EREKRDKARESENSRPRRSCTLEGG	EREKRDKARESEKSRPRRSCTLEGG	8.0	9.0	unscreened	-	4180_1:8716255-8716255 A>T_EREKRDKARESEKSRPRRSCTLEGG
5:179225211-179225211 C>T	0.0	4180	BREAST	-	-	-	-	MGAT4B	uc003mkr.3,p.R541H|uc003mkp.3,p.R380H|NM_014275,p.R526H|ENST00000292591,p.R526H|ENST00000337755,p.R541H|NM_054013,p.R541H|uc003mks.3,p.R526H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003mks.3	nonsynonymous SNV	exon14	c.G1577A	p.R526H	EVDPAFGPLEALRLSIQTDSPVWVI	EVDPAFGPLEALHLSIQTDSPVWVI	10.0	3.0	unscreened	-	4180_5:179225211-179225211 C>T_EVDPAFGPLEALHLSIQTDSPVWVI
6:19838277-19838277 A>G	0.0	4180	BREAST	-	-	-	-	ID4	uc003ncw.4,p.I98V|NM_001546,p.I98V|ENST00000378700,p.I98V	protein_coding	uc003ncw.4	nonsynonymous SNV	exon1	c.A292G	p.I98V	KKVSKVEILQHVIDYILDLQLALET	KKVSKVEILQHVVDYILDLQLALET	5.0	5.0	unscreened	-	4180_6:19838277-19838277 A>G_KKVSKVEILQHVVDYILDLQLALET
9:119461792-119461792 G>A	0.0	4180	BREAST	-	-	-	-	TRIM32	ENST00000450136,p.V591M|NM_012210,p.V591M|NM_001099679,p.V591M|uc004bjw.2,p.V591M|ENST00000373983,p.V591M|uc004bjx.2,p.V591M|uc022bmo.1,p.V591M	protein_coding	uc022bmo.1	nonsynonymous SNV	exon1	c.G1771A	p.V591M	AGMCVDARGDLIVADSSRKEILHFP	AGMCVDARGDLIMADSSRKEILHFP	6.0	6.0	unscreened	-	4180_9:119461792-119461792 G>A_AGMCVDARGDLIMADSSRKEILHFP
10:135233645-135233645 C>-	0.0	4180	BREAST	-	-	ID=COSM253029;OCCURENCE=1(ovary),1(large_intestine)	-	MTG1	uc001lnd.3,p.H327fs|uc031pxs.1,p.H143fs|NM_138384,p.H327fs|ENST00000477902,p.H286fs|ENST00000432508,p.H276fs|ENST00000317502,p.H327fs|uc010qve.2,p.H192fs|ENST00000468317,p.H332fs	protein_coding, processed_transcript	uc031pxs.1	frameshift deletion	exon4	c.429delC	p.H143fs	GSVMLDLDVLRGHPPAETLP	GSVMLDLDVLRGHPRLRLCP	7.0	9.0	unscreened	-	4180_10:135233645-135233645 C>-_GSVMLDLDVLRGHPRLRLCP
12:116428873-116428873 C>T	1.0	4180	BREAST	-	-	-	-	MED13L	uc001tvw.3,p.E1296K|ENST00000281928,p.E1296K|NM_015335,p.E1296K	retained_intron, protein_coding, processed_transcript	uc001tvw.3	nonsynonymous SNV	exon17	c.G3886A	p.E1296K	QYVDNPTGGKVDEALVRSATVHSWP	QYVDNPTGGKVDKALVRSATVHSWP	8.0	6.0	unscreened	-	4180_12:116428873-116428873 C>T_QYVDNPTGGKVDKALVRSATVHSWP
6:163899920-163899920 A>-	1.0	4180	BREAST	-	-	ID=COSM1192820,COSM269990;OCCURENCE=1(large_intestine),1(pancreas),1(stomach)	1	QKI	uc003qug.3,p.K132fs|ENST00000392127,p.K132fs|NM_001301085,p.K132fs|ENST00000544823,p.K77fs|uc003qui.3,p.K132fs|uc003quj.3,p.K132fs|NM_206853,p.K132fs|uc003que.3,p.K132fs|ENST00000544436,p.K77fs|NM_006775,p.K132fs|uc003quh.3,p.K132fs|ENST00000361752,p.K132fs|ENST00000424802,p.K132fs|ENST00000537041,p.K77fs|ENST00000361758,p.K132fs|uc003quf.3,p.K132fs|ENST00000275262,p.K132fs|ENST00000453779,p.K132fs|ENST00000361195,p.K132fs|NM_206855,p.K132fs|NM_206854,p.K132fs	retained_intron, protein_coding, nonsense_mediated_decay	uc003quj.3	frameshift deletion	exon3	c.394delA	p.K132fs	KIMVRGKGSMRDKKKEEQNRGKPNW	KIMVRGKGSMRDKKRRSKIEASPIGSI	10.0	5.0	unscreened	-	4180_6:163899920-163899920 A>-_KIMVRGKGSMRDKKRRSKIEASPIGSI
19:44129265-44129265 C>T	0.0	4180	BREAST	-	-	-	-	CADM4	NM_145296,p.G298D|uc002oxc.1,p.G298D|ENST00000222374,p.G298D	protein_coding, processed_transcript	uc002oxc.1	nonsynonymous SNV	exon7	c.G893A	p.G298D	NGTYTCEASNKHGHARALYVLVVYD	NGTYTCEASNKHDHARALYVLVVYD	7.0	6.0	unscreened	-	4180_19:44129265-44129265 C>T_NGTYTCEASNKHDHARALYVLVVYD
2:207436529-207436529 A>G	0.0	4180	BREAST	-	-	-	-	ADAM23	NM_003812,p.T549A|ENST00000374415,p.T549A|ENST00000264377,p.T549A|uc002vbq.4,p.T549A|ENST00000374416,p.T549A	protein_coding	uc002vbq.4	nonsynonymous SNV	exon17	c.A1645G	p.T549A	GAHCSDGPCCNNTSCLFQPRGYECR	GAHCSDGPCCNNASCLFQPRGYECR	5.0	1.0	unscreened	-	4180_2:207436529-207436529 A>G_GAHCSDGPCCNNASCLFQPRGYECR
1:157737287-157737287 C>T	0.0	4180	BREAST	-	-	-	-	FCRL2	ENST00000392274,p.R299H|uc001fre.2,p.R299H|ENST00000361516,p.R299H|NM_001159488,p.R299H|NM_030764,p.R299H|uc010phz.1,p.R299H	retained_intron, protein_coding	uc010phz.1	nonsynonymous SNV	exon6	c.G896A	p.R299H	KVVNIPVRIPVSRPVLTLRSPGAQA	KVVNIPVRIPVSHPVLTLRSPGAQA	4.0	1.0	unscreened	-	4180_1:157737287-157737287 C>T_KVVNIPVRIPVSHPVLTLRSPGAQA
22:28693706-28693706 C>T	0.0	4180	BREAST	-	-	ID=COSM2935949;OCCURENCE=1(lung)	-	TTC28	ENST00000397906,p.A222T|uc003adp.4,p.A222T|NM_001145418,p.A222T	retained_intron, protein_coding, processed_transcript	uc003adp.4	nonsynonymous SNV	exon4	c.G664A	p.A222T	GHHGASVVVLEAALKIGTCSLKLRG	GHHGASVVVLEATLKIGTCSLKLRG	4.0	2.0	unscreened	-	4180_22:28693706-28693706 C>T_GHHGASVVVLEATLKIGTCSLKLRG
9:123912690-123912690 C>-	0.0	4180	BREAST	-	-	-	1	CNTRL	ENST00000373847,p.P746fs|NM_007018,p.P1298fs|uc004bkx.1,p.P1298fs|ENST00000238341,p.P1298fs|uc004bky.1,p.P902fs|uc004bla.1,p.P746fs|ENST00000373850,p.P746fs|ENST00000373855,p.P1298fs	protein_coding, processed_transcript	uc004bla.1	frameshift deletion	exon14	c.2236delC	p.P746fs	PPAGAPMVYGPPPPNFSIPFIPMGV	PPAGAPMVYGPPPPTSPSPSSLWVCCIATSLNTIT	7.0	8.0	unscreened	-	4180_9:123912690-123912690 C>-_PPAGAPMVYGPPPPTSPSPSSLWVCCIATSLNTIT
9:85620405-85620405 G>A	0.0	4180	BREAST	-	-	-	-	RASEF	ENST00000376447,p.R347W|uc004amo.2,p.R347W|NM_152573,p.R347W	protein_coding	uc004amo.2	nonsynonymous SNV	exon8	c.C1039T	p.R347W	LERQIEILQTANRKLHDSNDGLRSA	LERQIEILQTANWKLHDSNDGLRSA	7.0	5.0	unscreened	-	4180_9:85620405-85620405 G>A_LERQIEILQTANWKLHDSNDGLRSA
8:125131921-125131921 A>-	0.0	4180	BREAST	-	-	-	-	FER1L6	ENST00000522917,p.K1822fs|ENST00000399018,p.K1822fs|NM_001039112,p.K1822fs|uc003yqw.3,p.K1822fs	protein_coding	uc003yqw.3	frameshift deletion	exon41	c.5464delA	p.K1822fs	FKCLYYLIWKNYKKYIIIAFILIIL	FKCLYYLIWKNYKSTSSLLSFSSSSSSSSSFSSTPCQEPSAEGSLWAH	3.0	7.0	unscreened	-	4180_8:125131921-125131921 A>-_FKCLYYLIWKNYKSTSSLLSFSSSSSSSSSFSSTPCQEPSAEGSLWAH
X:140994381-140994381 C>G	0.0	4180	BREAST	-	-	-	-	MAGEC1	uc022cfi.1,p.H56Q|NM_005462,p.H397Q|uc004fbt.3,p.H397Q|ENST00000285879,p.H397Q	protein_coding	uc022cfi.1	nonsynonymous SNV	exon1	c.C168G	p.H56Q	LLSLFQSSPERTHSTFEGFPQSPLQ	LLSLFQSSPERTQSTFEGFPQSPLQ	2.0	6.0	unscreened	-	4180_X:140994381-140994381 C>G_LLSLFQSSPERTQSTFEGFPQSPLQ
1:78163067-78163067 C>T	1.0	4180	BREAST	-	-	-	-	USP33	ENST00000370793,p.V922I|ENST00000370794,p.V891I|ENST00000357428,p.V922I|uc001dht.4,p.V922I|NM_015017,p.V922I|NM_201624,p.V891I|uc001dhu.4,p.V891I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001dhu.4	nonsynonymous SNV	exon24	c.G2671A	p.V891I	GGGPEVILRPPVVHVDPDILQAEEK	GGGPEVILRPPVIHVDPDILQAEEK	9.0	7.0	unscreened	-	4180_1:78163067-78163067 C>T_GGGPEVILRPPVIHVDPDILQAEEK
14:38679042-38679042 G>-	0.0	4180	BREAST	-	-	-	-	SSTR1	uc001wul.1,p.V150fs|ENST00000267377,p.V150fs|uc021rsi.1,p.V150fs|NM_001049,p.V150fs	protein_coding	uc021rsi.1	frameshift deletion	exon1	c.448delG	p.V150fs	AVNMFTSIYCLTVLSVDRYVAVVHP	AVNMFTSIYCLTCSAWTATWPWCIPSRRPATAGPPWPR	1.0	9.0	unscreened	-	4180_14:38679042-38679042 G>-_AVNMFTSIYCLTCSAWTATWPWCIPSRRPATAGPPWPR
15:74741543-74741543 G>A	0.0	4180	BREAST	-	-	-	-	UBL7	ENST00000567435,p.P289L|NM_032907,p.P289L|uc002axz.1,p.P289L|ENST00000564488,p.P289L|ENST00000395081,p.P289L|ENST00000361351,p.P289L|uc002axx.1,p.P329L|NM_001286740,p.P289L|uc002axy.1,p.P289L|NM_201265,p.P289L|NM_001286739,p.P289L|ENST00000565335,p.P289L|NM_001286741,p.P329L|NM_001286742,p.P329L|uc002axw.1,p.P289L	protein_coding	uc002axz.1	nonsynonymous SNV	exon10	c.C866T	p.P289L	ALASTPESSSHTPTPGTQGHSSGTS	ALASTPESSSHTLTPGTQGHSSGTS	9.0	2.0	unscreened	-	4180_15:74741543-74741543 G>A_ALASTPESSSHTLTPGTQGHSSGTS
15:74741543-74741543 G>A	0.0	4180	BREAST	-	-	-	-	UBL7	ENST00000565494,p.P37L	protein_coding	ENST00000565494	nonsynonymous SNV	exon1	c.C110T	p.P37L	ALASTPESSSHTPTPGTQSGTPITN	ALASTPESSSHTLTPGTQSGTPITN	9.0	2.0	unscreened	-	4180_15:74741543-74741543 G>A_ALASTPESSSHTLTPGTQSGTPITN
10:38407614-38407614 C>A	0.0	4180	BREAST	-	-	-	-	ZNF37A	uc001izm.3,p.A512E|NM_001178101,p.A512E|NM_003421,p.A512E|NM_001007094,p.A512E|ENST00000361085,p.A512E|uc001izk.3,p.A512E|ENST00000351773,p.A512E|uc001izl.3,p.A512E	protein_coding, processed_transcript	uc001izm.3	nonsynonymous SNV	exon7	c.C1535A	p.A512E	CGKSFCVKSKLIAHHRTHTGEKPYE	CGKSFCVKSKLIEHHRTHTGEKPYE	7.0	2.0	unscreened	-	4180_10:38407614-38407614 C>A_CGKSFCVKSKLIEHHRTHTGEKPYE
21:40778074-40778074 T>C	0.0	4180	BREAST	-	-	-	-	LCA5L	ENST00000358268,p.R583G|NM_152505,p.R583G|uc002yxv.3,p.R583G|ENST00000288350,p.R583G|uc002yxu.3,p.R583G|ENST00000380671,p.R583G	retained_intron, protein_coding, processed_transcript	uc002yxv.3	nonsynonymous SNV	exon10	c.A1747G	p.R583G	DSGYEPSFGKSSRIKVKDTTFRDKK	DSGYEPSFGKSSGIKVKDTTFRDKK	5.0	1.0	unscreened	-	4180_21:40778074-40778074 T>C_DSGYEPSFGKSSGIKVKDTTFRDKK
8:124219786-124219786 G>A	0.0	4180	BREAST	-	-	-	-	FAM83A	ENST00000318462,p.R388Q|NM_032899,p.R388Q|uc003ypv.3,p.R388Q|uc003ypx.3,p.R388Q|ENST00000518448,p.R388Q	retained_intron, protein_coding, processed_transcript	uc003ypx.3	nonsynonymous SNV	exon4	c.G1163A	p.R388Q	WGAPSPQAHLSPRPHDGPPAAVYSN	WGAPSPQAHLSPQPHDGPPAAVYSN	4.0	2.0	unscreened	-	4180_8:124219786-124219786 G>A_WGAPSPQAHLSPQPHDGPPAAVYSN
5:41181574-41181574 A>G	0.0	4180	BREAST	-	-	-	-	C6	NM_001115131,p.S272P|ENST00000337836,p.S272P|NM_000065,p.S272P|uc003jml.2,p.S272P|uc003jmk.3,p.S272P|ENST00000263413,p.S272P	retained_intron, protein_coding, processed_transcript	uc003jml.2	nonsynonymous SNV	exon7	c.T814C	p.S272P	SLGHNENQQGSFSSQGGSSFSVPIF	SLGHNENQQGSFPSQGGSSFSVPIF	1.0	2.0	unscreened	-	4180_5:41181574-41181574 A>G_SLGHNENQQGSFPSQGGSSFSVPIF
1:227152722-227152722 T>C	1.0	4180	BREAST	-	-	-	-	ADCK3	uc009xeq.1,p.Y15H|uc001hqn.1,p.Y67H|uc010pvp.1,p.Y30H|ENST00000366778,p.Y15H|NM_020247,p.Y67H|ENST00000366779,p.Y67H|uc001hqm.1,p.Y67H|ENST00000366777,p.Y67H	protein_coding, processed_transcript	uc010pvp.1	nonsynonymous SNV	exon4	c.T88C	p.Y30H	LGKVQGQDKHEEYFAENFGGPEGEF	LGKVQGQDKHEEHFAENFGGPEGEF	9.0	6.0	unscreened	-	4180_1:227152722-227152722 T>C_LGKVQGQDKHEEHFAENFGGPEGEF
11:71725052-71725052 G>A	0.0	4180	BREAST	-	-	ID=COSM1561596;OCCURENCE=1(large_intestine)	1	NUMA1	uc001orn.2,p.T729I|uc001oro.1,p.T1166I|ENST00000358965,p.T1166I|NM_006185,p.T1166I|ENST00000393695,p.T1166I|uc001orm.1,p.T1166I|uc009ysx.1,p.T1166I|uc001orl.1,p.T1166I|NM_001286561,p.T1166I|uc009ysw.1,p.T729I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009ysx.1	nonsynonymous SNV	exon14	c.C3497T	p.T1166I	RASRAERDSALETLQGQLEEKAQEL	RASRAERDSALEILQGQLEEKAQEL	10.0	3.0	unscreened	-	4180_11:71725052-71725052 G>A_RASRAERDSALEILQGQLEEKAQEL
19:3595835-3595835 G>A	1.0	4180	BREAST	-	-	-	-	TBXA2R	NM_001060,p.R295C|NM_201636,p.R295C|ENST00000375190,p.R295C|uc021umv.1,p.R295C|uc002lyg.2,p.R295C|ENST00000411851,p.R295C	protein_coding, processed_transcript	uc021umv.1	nonsynonymous SNV	exon3	c.C883T	p.R295C	SRTTEKELLIYLRVATWNQILDPWV	SRTTEKELLIYLCVATWNQILDPWV	5.0	10.0	unscreened	-	4180_19:3595835-3595835 G>A_SRTTEKELLIYLCVATWNQILDPWV
17:42437482-42437482 T>G	0.0	4180	BREAST	-	-	-	-	FAM171A2	NM_198475,p.Q46P|uc002igs.2,p.Q46P|ENST00000589407,p.Q46P|ENST00000588067,p.Q46P|ENST00000293443,p.Q46P	retained_intron, protein_coding, nonsense_mediated_decay	uc002igs.2	nonsynonymous SNV	exon2	c.A137C	p.Q46P	EPPSPQEILIKVQVYVSGELVPLAR	EPPSPQEILIKVPVYVSGELVPLAR	4.0	2.0	unscreened	-	4180_17:42437482-42437482 T>G_EPPSPQEILIKVPVYVSGELVPLAR
1:247921423-247921423 C>G	0.0	4180	BREAST	-	-	-	-	OR1C1	uc010pza.2,p.G96R|NM_012353,p.G96R|ENST00000408896,p.G96R	protein_coding	uc010pza.2	nonsynonymous SNV	exon1	c.G286C	p.G96R	NILTGTKTISFAGCLTQLFFFVSFV	NILTGTKTISFARCLTQLFFFVSFV	1.0	5.0	unscreened	-	4180_1:247921423-247921423 C>G_NILTGTKTISFARCLTQLFFFVSFV
4:126402684-126402684 C>G	0.0	4180	BREAST	-	-	-	1	FAT4	uc003ifi.1,p.P1681A|NM_001291303,p.P4205A|uc003ifj.4,p.P4203A|ENST00000394329,p.P4203A|NM_024582,p.P4203A|NM_001291285,p.P4205A	retained_intron, protein_coding	uc003ifj.4	nonsynonymous SNV	exon15	c.C12607G	p.P4203A	GLTGKYCEKSVTPDTALSLEGKGRL	GLTGKYCEKSVTADTALSLEGKGRL	3.0	10.0	unscreened	-	4180_4:126402684-126402684 C>G_GLTGKYCEKSVTADTALSLEGKGRL
19:45211201-45211201 A>G	0.0	4180	BREAST	-	-	-	-	CEACAM16	uc010xxd.2,p.T337A|ENST00000587331,p.T337A|ENST00000405314,p.T337A|NM_001039213,p.T337A	protein_coding	uc010xxd.2	nonsynonymous SNV	exon6	c.A1009G	p.T337A	PTKPTEGQDVTLTVQGYPKDLLVYA	PTKPTEGQDVTLAVQGYPKDLLVYA	1.0	1.0	unscreened	-	4180_19:45211201-45211201 A>G_PTKPTEGQDVTLAVQGYPKDLLVYA
9:139733900-139733900 G>A	1.0	4180	BREAST	-	-	-	-	RABL6	ENST00000311502,p.D574N|uc004cjj.1,p.D575N|NM_024718,p.D574N|uc004cjn.1,p.D368N|ENST00000435930,p.D368N|uc004cji.1,p.D574N|ENST00000371663,p.D575N|uc010nbs.1,p.D459N|NM_001173988,p.D575N|ENST00000371675,p.D459N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010nbs.1	nonsynonymous SNV	exon12	c.G1375A	p.D459N	AAQMLSFVMDDPDFESEGSDTQRRA	AAQMLSFVMDDPNFESEGSDTQRRA	10.0	5.0	-	-	4180_9:139733900-139733900 G>A_AAQMLSFVMDDPNFESEGSDTQRRA
18:28992979-28992979 A>T	0.0	4180	BREAST	-	-	-	-	DSG4	uc002kwq.2,p.L848F|ENST00000359747,p.L867F|NM_177986,p.L848F|NM_001134453,p.L867F|uc002kwr.2,p.L867F|ENST00000308128,p.L848F	protein_coding	uc002kwr.2	nonsynonymous SNV	exon15	c.A2601T	p.L867F	LDPKFRTLAEICLNTEIEPFPSHQA	LDPKFRTLAEICFNTEIEPFPSHQA	1.0	10.0	unscreened	-	4180_18:28992979-28992979 A>T_LDPKFRTLAEICFNTEIEPFPSHQA
3:49877797-49877798 CT>-	0.0	4180	BREAST	-	-	-	-	TRAIP	ENST00000331456,p.T238fs|uc003cxs.1,p.T238fs|ENST00000482582,p.T222fs|NM_005879,p.T238fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003cxs.1	frameshift deletion	exon9	c.714_715del	p.T238fs	RKDLFSSRSKLQTVYSELDQAKLEL	RKDLFSSRSKLQTLL	8.0	2.0	unscreened	-	4180_3:49877797-49877798 CT>-_RKDLFSSRSKLQTLL
11:17464387-17464387 G>A	0.0	4180	BREAST	0.0005	-	-	-	ABCC8	ENST00000302539,p.R504C|NM_000352,p.R504C|uc010rcy.1,p.R503C|uc001mnc.3,p.R504C|NM_001287174,p.R504C|ENST00000527905,p.R504C|ENST00000389817,p.R504C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rcy.1	nonsynonymous SNV	exon10	c.C1507T	p.R503C	SNERLKQTNEMLRGIKLLKLYAWEN	SNERLKQTNEMLCGIKLLKLYAWEN	1.0	5.0	unscreened	-	4180_11:17464387-17464387 G>A_SNERLKQTNEMLCGIKLLKLYAWEN
6:41562708-41562708 G>A	0.0	4180	BREAST	-	-	-	-	FOXP4	NM_138457,p.R533Q|ENST00000373057,p.R544Q|ENST00000373060,p.R546Q|uc003oqm.3,p.R544Q|uc003oql.3,p.R546Q|NM_001012426,p.R546Q|ENST00000373063,p.R533Q|ENST00000409208,p.R534Q|NM_001012427,p.R544Q|ENST00000307972,p.R546Q|uc003oqn.3,p.R533Q	protein_coding	uc003oqn.3	nonsynonymous SNV	exon14	c.G1598A	p.R533Q	AVWTVDEREYQKRRPPKMTGSPTLV	AVWTVDEREYQKQRPPKMTGSPTLV	8.0	4.0	unscreened	-	4180_6:41562708-41562708 G>A_AVWTVDEREYQKQRPPKMTGSPTLV
5:112420880-112420880 ->TGC	0.0	4180	BREAST	-	-	-	-	MCC	uc003kqj.4,p.N319delinsSN|uc010jcd.1,p.N281delinsSN|ENST00000515367,p.N256delinsSN|ENST00000302475,p.N319delinsSN|NM_002387,p.N319delinsSN|NM_001085377,p.N509delinsSN|uc011cwb.1,p.N319delinsSN|uc003kql.4,p.N509delinsSN|ENST00000408903,p.N509delinsSN	retained_intron, protein_coding, processed_transcript	uc011cwb.1	nonframeshift insertion	exon7	c.955_956insGCA	p.N319delinsSN	PSTGELSTSSSSNDIPIAKIAERVK	PSTGELSTSSSSSNDIPIAKIAERV	6.0	3.0	unscreened	-	4180_5:112420880-112420880 ->TGC_PSTGELSTSSSSSNDIPIAKIAERV
14:96707032-96707032 T>G	0.0	4180	BREAST	-	-	-	-	BDKRB2	ENST00000542454,p.W96G|uc010avm.1,p.W123G|ENST00000554311,p.W123G|uc010twu.1,p.W96G|ENST00000306005,p.W123G|ENST00000539359,p.W96G|uc001yfg.2,p.W123G|NM_000623,p.W123G	protein_coding	uc010twu.1	nonsynonymous SNV	exon4	c.T286G	p.W96G	PFWAITISNNFDWLFGETLCRVVNA	PFWAITISNNFDGLFGETLCRVVNA	4.0	8.0	unscreened	-	4180_14:96707032-96707032 T>G_PFWAITISNNFDGLFGETLCRVVNA
3:10290985-10290985 C>A	0.0	4180	BREAST	-	-	ID=COSM1035896;OCCURENCE=1(endometrium)	-	TATDN2	uc003bvf.3,p.P34H|uc003bvg.2,p.P34H|uc011atr.2,p.P34H|ENST00000287652,p.P34H|ENST00000448281,p.P34H|NM_014760,p.P34H	protein_coding, processed_transcript, nonsense_mediated_decay	uc011atr.2	nonsynonymous SNV	exon2	c.C101A	p.P34H	KRSCLREPCDVAPSSRPAQRSASRS	KRSCLREPCDVAHSSRPAQRSASRS	8.0	5.0	unscreened	-	4180_3:10290985-10290985 C>A_KRSCLREPCDVAHSSRPAQRSASRS
20:409677-409677 G>A	0.0	4180	BREAST	-	-	-	-	RBCK1	uc002wdr.4,p.R294H|ENST00000353660,p.R422H|ENST00000382181,p.R294H|uc002wdp.4,p.R464H|NM_006462,p.R422H|NM_031229,p.R464H|uc002wdq.4,p.R422H|ENST00000356286,p.R464H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002wdr.4	nonsynonymous SNV	exon9	c.G881A	p.R294H	IVVQKKDGCDWIRCTVCHTEICWVT	IVVQKKDGCDWIHCTVCHTEICWVT	9.0	1.0	unscreened	-	4180_20:409677-409677 G>A_IVVQKKDGCDWIHCTVCHTEICWVT
15:33445423-33445423 A>G	0.0	4180	BREAST	-	-	-	-	FMN1	NM_001277314,p.C565R|ENST00000561249,p.C565R|uc031qrh.1,p.C565R|ENST00000320930,p.C565R|ENST00000559047,p.C565R|uc001zhh.4,p.C565R|NM_001277313,p.C565R	retained_intron, protein_coding, processed_transcript	uc031qrh.1	nonsynonymous SNV	exon4	c.T1693C	p.C565R	DSPCRKSRVFSGCVSADTLEPPSSA	DSPCRKSRVFSGRVSADTLEPPSSA	6.0	10.0	unscreened	-	4180_15:33445423-33445423 A>G_DSPCRKSRVFSGRVSADTLEPPSSA
12:18649081-18649081 T>-	0.0	4180	BREAST	-	-	-	-	PIK3C2G	uc010sib.2,p.I960fs|ENST00000433979,p.I919fs|NM_004570,p.I919fs|uc001rdt.3,p.I919fs|NM_001288774,p.I738fs|NM_001288772,p.I960fs|ENST00000538779,p.I960fs|uc010sic.2,p.I738fs|ENST00000266497,p.I919fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc010sic.2	frameshift deletion	exon20	c.2213delT	p.I738fs	INANPMGKNISIIFKAGDDLRQDML	INANPMGKNISIILRLEMIFVRICLFCSLFK	3.0	6.0	unscreened	-	4180_12:18649081-18649081 T>-_INANPMGKNISIILRLEMIFVRICLFCSLFK
12:21229397-21229397 G>A	0.0	4180	BREAST	-	-	-	-	SLCO1B7	ENST00000381541,p.V587I|ENST00000545916,p.V49I|NM_001009562,p.V540I|ENST00000554957,p.V587I|uc010sil.2,p.V648I|ENST00000553473,p.V648I|uc010sim.2,p.V587I|ENST00000585342,p.V42I|ENST00000421593,p.V540I|uc010sin.2,p.V540I|ENST00000540229,p.V648I|ENST00000593147,p.V43I	 nonsense_mediated_decay,protein_coding, processed_transcript,nonsense_mediated_decay	uc010sin.2	nonsynonymous SNV	exon12	c.G1618A	p.V540I	HSMIMRSLGGILVPIYFGALIDTTC	HSMIMRSLGGILIPIYFGALIDTTC	1.0	1.0	unscreened	-	4180_12:21229397-21229397 G>A_HSMIMRSLGGILIPIYFGALIDTTC
10:74804808-74804808 A>G	1.0	4180	BREAST	-	-	-	-	P4HA1	uc001jtg.3,p.L360P|ENST00000307116,p.L360P|ENST00000394890,p.L360P|NM_001017962,p.L360P|ENST00000412021,p.L360P|uc010qka.2,p.L360P|NM_001142595,p.L360P|uc021ptk.1,p.L360P	protein_coding, processed_transcript	uc021ptk.1	nonsynonymous SNV	exon8	c.T1079C	p.L360P	EIEIVKDLAKPRLRRATISNPITGD	EIEIVKDLAKPRPRRATISNPITGD	10.0	8.0	unscreened	-	4180_10:74804808-74804808 A>G_EIEIVKDLAKPRPRRATISNPITGD
2:149806395-149806395 A>-	0.0	4180	BREAST	-	-	-	-	KIF5C	ENST00000414838,p.K158fs|uc010zbu.2,p.K253fs|NM_004522,p.K253fs|ENST00000397413,p.K21fs|ENST00000435030,p.K253fs	retained_intron, protein_coding, processed_transcript	uc010zbu.2	frameshift deletion	exon9	c.757delA	p.K253fs	KTGAEGAVLDEAKNINKSLSALGNV	KTGAEGAVLDEAKISISLCLLLEM	5.0	6.0	unscreened	-	4180_2:149806395-149806395 A>-_KTGAEGAVLDEAKISISLCLLLEM
1:118693197-118693197 G>T	0.0	4180	BREAST	-	-	-	-	SPAG17	ENST00000336338,p.P95H|NM_206996,p.P95H|uc001ehk.2,p.P95H	protein_coding, processed_transcript	uc001ehk.2	nonsynonymous SNV	exon3	c.C284A	p.P95H	LVGSASSKKAKKPVGGNAPLYYEVL	LVGSASSKKAKKHVGGNAPLYYEVL	5.0	7.0	unscreened	-	4180_1:118693197-118693197 G>T_LVGSASSKKAKKHVGGNAPLYYEVL
14:50930795-50930795 ->T	1.0	4180	BREAST	-	-	ID=COSM1167791;OCCURENCE=1(skin),1(large_intestine)	-	MAP4K5	uc001wya.3,p.R265fs|uc001wyb.3,p.R265fs|ENST00000013125,p.R265fs|NM_198794,p.R265fs|NM_006575,p.R265fs|uc010anv.1,p.R265fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010anv.1	frameshift insertion	exon11	c.793dupA	p.R265fs	FVKIALTKNPKKRPTAERLLTHTFV	FVKIALTKNPKKKTNC	7.0	7.0	unscreened	-	4180_14:50930795-50930795 ->T_FVKIALTKNPKKKTNC
1:201176933-201176933 C>T	0.0	4180	BREAST	-	-	-	-	IGFN1	NM_001164586,p.A971V|ENST00000335211,p.A971V|uc001gwc.3,p.A971V	retained_intron, protein_coding, nonsense_mediated_decay	uc001gwc.3	nonsynonymous SNV	exon12	c.C2912T	p.A971V	LGYSREISSKSGAGYSYGSGVPGEM	LGYSREISSKSGVGYSYGSGVPGEM	1.0	3.0	unscreened	-	4180_1:201176933-201176933 C>T_LGYSREISSKSGVGYSYGSGVPGEM
20:35684651-35684651 G>A	1.0	4180	BREAST	-	-	-	-	RBL1	NM_183404,p.R421C|uc002xgj.1,p.R421C|NM_002895,p.R421C|ENST00000373664,p.R421C|ENST00000344359,p.R421C|uc002xgi.3,p.R421C	protein_coding, nonsense_mediated_decay	uc002xgj.1	nonsynonymous SNV	exon10	c.C1261T	p.R421C	SDQLINIFESCVRNPVENIMKILKG	SDQLINIFESCVCNPVENIMKILKG	7.0	8.0	unscreened	-	4180_20:35684651-35684651 G>A_SDQLINIFESCVCNPVENIMKILKG
19:52496620-52496620 C>T	0.0	4180	BREAST	-	-	-	-	ZNF615	ENST00000594083,p.C581Y|NM_198480,p.C570Y|ENST00000602063,p.C570Y|uc002pyg.2,p.C462Y|uc002pye.2,p.C570Y|uc010ydg.2,p.C575Y|ENST00000391795,p.C575Y|uc010epi.2,p.C577Y|ENST00000376716,p.C570Y|uc002pyh.2,p.C581Y|ENST00000598071,p.C581Y|NM_001199324,p.C581Y|uc002pyf.2,p.C581Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ydg.2	nonsynonymous SNV	exon4	c.G1724A	p.C575Y	HRRTHTGEKPYVCSECGKGLTGKSM	HRRTHTGEKPYVYSECGKGLTGKSM	5.0	5.0	unscreened	-	4180_19:52496620-52496620 C>T_HRRTHTGEKPYVYSECGKGLTGKSM
11:124626506-124626506 C>T	0.0	4180	BREAST	-	-	-	-	ESAM	NM_138961,p.V128M|ENST00000417453,p.V128M|uc001qav.4,p.V128M|uc001qau.4,p.V55M|ENST00000278927,p.V128M	retained_intron, protein_coding, nonsense_mediated_decay	uc001qav.4	nonsynonymous SNV	exon3	c.G382A	p.V128M	LQEKDSGPYSCSVNVQDKQGKSRGH	LQEKDSGPYSCSMNVQDKQGKSRGH	7.0	10.0	unscreened	-	4180_11:124626506-124626506 C>T_LQEKDSGPYSCSMNVQDKQGKSRGH
19:9069534-9069534 A>G	0.0	4180	BREAST	-	-	-	2	MUC16	NM_024690,p.M5971T|uc002mkp.3,p.M5971T|ENST00000397910,p.M5971T	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.T17912C	p.M5971T	SLLTSGRRKTIDMLDTHSELVTSSL	SLLTSGRRKTIDTLDTHSELVTSSL	6.0	9.0	unscreened	-	4180_19:9069534-9069534 A>G_SLLTSGRRKTIDTLDTHSELVTSSL
3:167254684-167254684 A>G	0.0	4180	BREAST	-	-	-	-	WDR49	uc003fev.1,p.F291S|NM_178824,p.F291S|ENST00000308378,p.F291S|ENST00000453925,p.F355S|uc003feu.1,p.F116S|uc011bpd.1,p.F355S|ENST00000476376,p.F116S	protein_coding, nonsense_mediated_decay	uc011bpd.1	nonsynonymous SNV	exon7	c.T1064C	p.F355S	GIQHHDDILCAAFLPPQTLVTGSYD	GIQHHDDILCAASLPPQTLVTGSYD	2.0	3.0	unscreened	-	4180_3:167254684-167254684 A>G_GIQHHDDILCAASLPPQTLVTGSYD
8:17793177-17793177 T>C	1.0	4180	BREAST	-	-	-	1	PCM1	NM_006197,p.W20R|uc022asj.1,p.W20R|ENST00000519253,p.W20R|uc003wyh.3,p.W20R|ENST00000518537,p.W20R|ENST00000517730,p.W20R|ENST00000524226,p.W20R|uc003wyi.4,p.W20R|uc010lta.1,p.W20R|ENST00000523055,p.W20R|uc011kyh.2,p.W20R|uc003wyg.2,p.W20R|uc003wyj.4,p.W20R|ENST00000325083,p.W20R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022asj.1	nonsynonymous SNV	exon1	c.T58C	p.W20R	FEDGMNDQDLPNWSNENVDDRLNNM	FEDGMNDQDLPNRSNENVDDRLNNM	9.0	9.0	unscreened	-	4180_8:17793177-17793177 T>C_FEDGMNDQDLPNRSNENVDDRLNNM
7:6080737-6080737 T>A	0.0	4180	BREAST	-	-	-	-	EIF2AK1	NM_014413,p.N302I|ENST00000536084,p.N178I|uc003spr.1,p.N94I|uc003spq.3,p.N301I|NM_001134335,p.N301I|ENST00000199389,p.N302I|uc003spp.3,p.N302I|uc011jwm.1,p.N178I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011jwm.1	nonsynonymous SNV	exon8	c.A533T	p.N178I	KRFGESDTENQNNKSVKYTTNLVIR	KRFGESDTENQNIKSVKYTTNLVIR	9.0	4.0	unscreened	-	4180_7:6080737-6080737 T>A_KRFGESDTENQNIKSVKYTTNLVIR
17:72363830-72363830 ->G	0.0	4180	BREAST	-	-	-	-	GPR142	ENST00000582579,p.T62fs	protein_coding, nonsense_mediated_decay	ENST00000582579	frameshift insertion	exon1	c.187dupG	p.T62fs	LSHSRWLRSPQVTGGSWDLRIRPSK	LSHSRWLRSPQVTGGKLGPPNKAIQGLQQFPPGESSCLPEQAFYGVGWLSVCV	1.0	2.0	unscreened	-	4180_17:72363830-72363830 ->G_LSHSRWLRSPQVTGGKLGPPNKAIQGLQQFPPGESSCLPEQAFYGVGWLSVCV
7:83016343-83016343 C>T	0.0	4180	BREAST	-	-	ID=COSM174430;OCCURENCE=1(large_intestine)	-	SEMA3E	uc003uhy.2,p.R564Q|NM_001178129,p.R504Q|NM_012431,p.R564Q|ENST00000427262,p.R504Q|uc022agy.1,p.R504Q|ENST00000307792,p.R564Q	protein_coding, nonsense_mediated_decay	uc022agy.1	nonsynonymous SNV	exon15	c.G1511A	p.R504Q	THAKRRFRRQDVRHGNAAQQCFGQQ	THAKRRFRRQDVQHGNAAQQCFGQQ	1.0	10.0	unscreened	-	4180_7:83016343-83016343 C>T_THAKRRFRRQDVQHGNAAQQCFGQQ
1:157737287-157737287 C>T	0.0	4180	BREAST	-	-	-	-	FCRL2	uc001frd.2,p.R46H|ENST00000469986,p.R46H	retained_intron, protein_coding	uc001frd.2	nonsynonymous SNV	exon1	c.G137A	p.R46H	LIAPLCLSVPVSRPVLTLRSPGAQA	LIAPLCLSVPVSHPVLTLRSPGAQA	4.0	1.0	unscreened	-	4180_1:157737287-157737287 C>T_LIAPLCLSVPVSHPVLTLRSPGAQA
16:66600666-66600666 C>T	0.0	4180	BREAST	-	-	-	-	CMTM1	ENST00000379500,p.R84C|uc002epn.4,p.R84C|ENST00000533953,p.R84C|ENST00000328020,p.R84C|NM_181268,p.R84C|NM_052999,p.R84C|uc010cdt.2,p.R84C|uc002epr.4,p.R84C	protein_coding, nonsense_mediated_decay	uc010cdt.2	nonsynonymous SNV	exon1	c.C250T	p.R84C	SEGTAPSRKATTRPPPKPTLPPPTP	SEGTAPSRKATTCPPPKPTLPPPTP	7.0	4.0	unscreened	-	4180_16:66600666-66600666 C>T_SEGTAPSRKATTCPPPKPTLPPPTP
5:32355884-32355884 T>-	1.0	4180	BREAST	-	-	-	-	ZFR	ENST00000265069,p.K1069fs|NM_016107,p.K1069fs|uc010ium.1,p.K200fs|uc003jhr.1,p.K1069fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ium.1	frameshift deletion	exon6	c.600delA	p.K200fs	VDGFEAEGKKDKKDYDNF	VDGFEAEGKKDKKIMITF	9.0	10.0	unscreened	-	4180_5:32355884-32355884 T>-_VDGFEAEGKKDKKIMITF
5:131944382-131944382 A>-	0.0	4180	BREAST	-	-	ID=COSM1433049,COSM1433050;OCCURENCE=2(large_intestine)	-	RAD50	uc003kxh.3,p.K793fs|ENST00000378823,p.K793fs|uc003kxi.3,p.K932fs|ENST00000265335,p.K932fs|NM_005732,p.K932fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc003kxi.3	frameshift deletion	exon17	c.2794delA	p.K932fs	EKFQQEKEELINKKNTSNKIAQDKL	EKFQQEKEELINKKIQATK	8.0	9.0	unscreened	-	4180_5:131944382-131944382 A>-_EKFQQEKEELINKKIQATK
11:45275874-45275874 T>C	0.0	4180	BREAST	-	-	-	-	SYT13	NM_001247987,p.Y20C|NM_020826,p.Y164C|uc009yku.1,p.Y20C|uc001myq.2,p.Y164C|ENST00000020926,p.Y164C	protein_coding, nonsense_mediated_decay	uc009yku.1	nonsynonymous SNV	exon5	c.A59G	p.Y20C	KAASWNQAPKLHYCLDYDCQKAELF	KAASWNQAPKLHCCLDYDCQKAELF	1.0	1.0	unscreened	-	4180_11:45275874-45275874 T>C_KAASWNQAPKLHCCLDYDCQKAELF
3:62258733-62258733 C>T	0.0	4180	BREAST	-	-	-	-	PTPRG	ENST00000295874,p.R1070C|uc003dlb.3,p.R1099C|uc003dlc.3,p.R1070C|uc011bfi.2,p.R345C|ENST00000474889,p.R1099C|NM_002841,p.R1099C	retained_intron, protein_coding, processed_transcript	uc011bfi.2	nonsynonymous SNV	exon10	c.C1033T	p.R345C	NVLGFLKHIRTQRNYLVQTEEQYIF	NVLGFLKHIRTQCNYLVQTEEQYIF	5.0	7.0	unscreened	-	4180_3:62258733-62258733 C>T_NVLGFLKHIRTQCNYLVQTEEQYIF
15:40916289-40916289 A>G	0.0	4180	BREAST	-	-	-	1	CASC5	uc001zme.3,p.Q1276R|uc010bbt.1,p.Q1276R|NM_144508,p.Q1276R|ENST00000346991,p.Q1302R|uc010ucq.1,p.Q1126R|uc010bbs.1,p.Q1302R|ENST00000399668,p.Q1276R|NM_170589,p.Q1302R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ucq.1	nonsynonymous SNV	exon9	c.A3377G	p.Q1126R	ACTLEKAQVESCQLNNRDRRNVDFT	ACTLEKAQVESCRLNNRDRRNVDFT	7.0	6.0	unscreened	-	4180_15:40916289-40916289 A>G_ACTLEKAQVESCRLNNRDRRNVDFT
10:74234942-74234942 A>-	0.0	4180	BREAST	-	-	-	-	MICU1	ENST00000401998,p.F283fs|NM_001195519,p.F85fs|NM_001195518,p.F283fs|ENST00000489666,p.F85fs|ENST00000398763,p.F85fs|uc010qjw.2,p.F85fs|ENST00000398761,p.F285fs|uc001jtb.2,p.F283fs|ENST00000361114,p.F283fs|uc010qjx.2,p.F85fs|ENST00000418483,p.F85fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qjx.2	frameshift deletion	exon3	c.255delT	p.F85fs	KSGLCSALTTYFFGADLKGKLTIKN	KSGLCSALTTYFLELI	9.0	5.0	unscreened	-	4180_10:74234942-74234942 A>-_KSGLCSALTTYFLELI
2:44539763-44539763 G>-	0.0	4180	BREAST	-	-	-	-	SLC3A1	uc002rub.2,p.L457fs|ENST00000409740,p.L88fs|uc002rud.4,p.L179fs|ENST00000260649,p.L457fs|ENST00000409741,p.L457fs|uc002rue.4,p.L77fs|ENST00000409387,p.L457fs|NM_000341,p.L457fs|ENST00000409294,p.L77fs|uc002ruc.4,p.L457fs|uc002rua.3,p.L457fs|ENST00000409229,p.L457fs|ENST00000409380,p.L179fs|uc002rtz.2,p.L457fs	protein_coding	uc002rue.4	frameshift deletion	exon2	c.231delG	p.L77fs	IGGPDSSRLTSRLGNQYVNVMNMLL	IGGPDSSRLTSRLGISMST	2.0	8.0	unscreened	-	4180_2:44539763-44539763 G>-_IGGPDSSRLTSRLGISMST
16:1706029-1706029 T>A	0.0	4180	BREAST	-	-	-	-	CRAMP1L	ENST00000293925,p.V424E|ENST00000397412,p.V424E|uc010uvh.2,p.V424E|ENST00000436138,p.V421E|NM_020825,p.V424E	retained_intron, protein_coding	uc010uvh.2	nonsynonymous SNV	exon9	c.T1271A	p.V424E	VARVVHSKAFCTVHWQEGGRCKQSA	VARVVHSKAFCTEHWQEGGRCKQSA	7.0	2.0	unscreened	-	4180_16:1706029-1706029 T>A_VARVVHSKAFCTEHWQEGGRCKQSA
19:38056315-38056315 C>G	0.0	4180	BREAST	-	-	-	-	ZNF571	ENST00000451802,p.E339Q|ENST00000328550,p.E339Q|NM_001290314,p.E339Q|ENST00000593133,p.E339Q|uc002ogt.3,p.E339Q|NM_016536,p.E339Q|ENST00000358744,p.E339Q|uc010efp.3,p.E339Q	protein_coding	uc010efp.3	nonsynonymous SNV	exon5	c.G1015C	p.E339Q	RVHTGEKPYICKECGKAFLCASQLN	RVHTGEKPYICKQCGKAFLCASQLN	5.0	7.0	unscreened	-	4180_19:38056315-38056315 C>G_RVHTGEKPYICKQCGKAFLCASQLN
1:2576977-2576977 G>A	0.0	4180	BREAST	-	-	-	-	TTC34	ENST00000401094,p.A41V|ENST00000401095,p.A238V|NM_001242672,p.A238V|uc021oey.1,p.A238V	retained_intron, protein_coding	uc021oey.1	nonsynonymous SNV	exon5	c.C713T	p.A238V	DQLQEAVDDIVSALKLGPGTVVPEL	DQLQEAVDDIVSVLKLGPGTVVPEL	1.0	7.0	unscreened	-	4180_1:2576977-2576977 G>A_DQLQEAVDDIVSVLKLGPGTVVPEL
8:144652165-144652165 C>T	0.0	4180	BREAST	-	-	-	-	MROH6	ENST00000398882,p.A372T|uc010mff.3,p.A372T|NM_001100878,p.A372T	retained_intron, protein_coding, processed_transcript	uc010mff.3	nonsynonymous SNV	exon7	c.G1114A	p.A372T	GLFADLLPRLRSADDPQRLTAMAFF	GLFADLLPRLRSTDDPQRLTAMAFF	7.0	8.0	unscreened	-	4180_8:144652165-144652165 C>T_GLFADLLPRLRSTDDPQRLTAMAFF
8:145699782-145699782 C>-	0.0	4180	BREAST	-	-	-	-	FOXH1	uc003zdc.3,p.V313fs|NM_003923,p.V313fs|ENST00000377317,p.V313fs	protein_coding, processed_transcript	uc003zdc.3	frameshift deletion	exon3	c.937delG	p.V313fs	PQCPSTSPAYWGVAPETRGPPGLLC	PQCPSTSPAYWGWPLKPEGPQGCSAI	3.0	7.0	unscreened	-	4180_8:145699782-145699782 C>-_PQCPSTSPAYWGWPLKPEGPQGCSAI
1:165398164-165398164 G>A	0.0	4180	BREAST	-	-	-	-	RXRG	ENST00000359842,p.S30L|NM_006917,p.S30L|uc001gda.3,p.S30L	protein_coding, processed_transcript	uc001gda.3	nonsynonymous SNV	exon2	c.C89T	p.S30L	SPGHTGSTSMSPSAALSTGKPMDSH	SPGHTGSTSMSPLAALSTGKPMDSH	3.0	3.0	unscreened	-	4180_1:165398164-165398164 G>A_SPGHTGSTSMSPLAALSTGKPMDSH
1:147096225-147096225 T>C	0.0	4180	BREAST	-	-	-	1	BCL9	uc010ozr.1,p.L1163P|NM_004326,p.L1249P|ENST00000234739,p.L1249P|uc001epq.3,p.L1249P	protein_coding, processed_transcript	uc010ozr.1	nonsynonymous SNV	exon7	c.T3488C	p.L1163P	SRIIPSEKPSQTLQYFPRGEVPGRK	SRIIPSEKPSQTPQYFPRGEVPGRK	7.0	5.0	unscreened	-	4180_1:147096225-147096225 T>C_SRIIPSEKPSQTPQYFPRGEVPGRK
3:38035801-38035801 A>G	0.0	4180	BREAST	-	-	-	-	VILL	uc003chj.3,p.Y62C|uc003chk.1,p.Y62C|ENST00000283713,p.Y62C|ENST00000492491,p.Y62C|ENST00000416303,p.Y62C|ENST00000383759,p.Y62C|uc003chl.3,p.Y62C|NM_015873,p.Y62C	retained_intron, protein_coding, nonsense_mediated_decay	uc003chl.3	nonsynonymous SNV	exon3	c.A185G	p.Y62C	PKATQGASSDLHYWVGKQAGAEAQG	PKATQGASSDLHCWVGKQAGAEAQG	6.0	3.0	unscreened	-	4180_3:38035801-38035801 A>G_PKATQGASSDLHCWVGKQAGAEAQG
X:50054209-50054209 A>G	0.0	4180	BREAST	-	-	-	-	CCNB3	ENST00000276014,p.T1014A|uc004dox.4,p.T1014A|uc004doy.3,p.T1014A|ENST00000376042,p.T1014A|NM_033031,p.T1014A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004doy.3	nonsynonymous SNV	exon5	c.A3040G	p.T1014A	TINEAFLFEDMITLNEKPTTGKELS	TINEAFLFEDMIALNEKPTTGKELS	4.0	4.0	unscreened	-	4180_X:50054209-50054209 A>G_TINEAFLFEDMIALNEKPTTGKELS
11:67051342-67051342 C>-	0.0	4180	BREAST	-	-	-	-	ADRBK1	ENST00000308595,p.I471fs|uc009yrn.1,p.I471fs|NM_001619,p.I471fs	retained_intron, protein_coding, processed_transcript	uc009yrn.1	frameshift deletion	exon17	c.1413delC	p.I471fs	QMVFLQKYPPPLIPPRGEVNAADAF	QMVFLQKYPPPLIPHEGR	9.0	2.0	unscreened	-	4180_11:67051342-67051342 C>-_QMVFLQKYPPPLIPHEGR
1:110906427-110906427 A>-	0.0	4180	BREAST	-	-	ID=COSM291751;OCCURENCE=1(large_intestine)	-	SLC16A4	ENST00000541986,p.F413fs|uc001dzo.2,p.F475fs|ENST00000472422,p.F427fs|uc009wfs.2,p.F427fs|NM_004696,p.F475fs|uc010ovy.2,p.F413fs|ENST00000369781,p.F307fs|NM_001201549,p.F307fs|NM_001201547,p.F413fs|uc001dzq.2,p.F245fs|ENST00000369779,p.F475fs|NM_001201546,p.F427fs|uc001dzp.2,p.F307fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ovy.2	frameshift deletion	exon8	c.1239delT	p.F413fs	GICYLLSSVSFFFVPLAERWKNSLT	GICYLLSSVSFFLYHWPKDGKTV	4.0	1.0	unscreened	-	4180_1:110906427-110906427 A>-_GICYLLSSVSFFLYHWPKDGKTV
19:15083611-15083611 G>A	0.0	4180	BREAST	-	-	-	-	SLC1A6	ENST00000600144,p.R38C|uc002nab.4,p.R38C|uc002naa.2,p.R38C|ENST00000544886,p.R38C|uc002nac.4,p.R38C|NM_001272088,p.R38C|uc002nad.1,p.R38C|ENST00000597262,p.R38C|ENST00000595863,p.R38C|ENST00000601761,p.R38C|NM_001272087,p.R38C|NM_005071,p.R38C|ENST00000221742,p.R38C|uc010dzu.2,p.R38C|ENST00000598504,p.R38C	retained_intron, protein_coding	uc010dzu.2	nonsynonymous SNV	exon2	c.C112T	p.R38C	LQESLQQRALRTRLRLQTMTLEHVL	LQESLQQRALRTCLRLQTMTLEHVL	1.0	9.0	unscreened	-	4180_19:15083611-15083611 G>A_LQESLQQRALRTCLRLQTMTLEHVL
1:153631253-153631253 G>A	0.0	4180	BREAST	-	-	-	-	SNAPIN	ENST00000368685,p.A12T|NM_012437,p.A12T|uc001fcq.4,p.A12T	protein_coding, processed_transcript	uc001fcq.4	nonsynonymous SNV	exon1	c.G34A	p.A12T	MAGAGSAAVSGAGTPVAGPTGRDL	MAGAGSAAVSGTGTPVAGPTGRDL	10.0	1.0	unscreened	-	4180_1:153631253-153631253 G>A_MAGAGSAAVSGTGTPVAGPTGRDL
22:25023438-25023438 C>A	1.0	4180	BREAST	-	-	-	-	GGT1	ENST00000425895,p.A361D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000425895	nonsynonymous SNV	exon11	c.C1082A	p.A361D	GPQHDLRVLRCPAPGPDL	GPQHDLRVLRCPDPGPDL	7.0	10.0	unscreened	-	4180_22:25023438-25023438 C>A_GPQHDLRVLRCPDPGPDL
16:28603722-28603722 G>A	0.0	4180	BREAST	0.0005	-	-	-	SULT1A2	uc002dqh.2,p.R213C|ENST00000533150,p.R180C|NM_001054,p.R213C|ENST00000335715,p.R213C|ENST00000395630,p.R213C|NM_177528,p.R213C|uc002dqg.2,p.R213C	protein_coding, nonsense_mediated_decay	uc002dqh.2	nonsynonymous SNV	exon7	c.C637T	p.R213C	KREIQKILEFVGRSLPEETVDLMVE	KREIQKILEFVGCSLPEETVDLMVE	5.0	1.0	unscreened	-	4180_16:28603722-28603722 G>A_KREIQKILEFVGCSLPEETVDLMVE
6:45390355-45390355 C>-	0.0	4180	BREAST	-	-	ID=COSM1444868,COSM1444867;OCCURENCE=4(large_intestine)	-	RUNX2	uc011dvy.2,p.S28fs|NM_001015051,p.S28fs|ENST00000371436,p.S28fs|ENST00000541979,p.S96fs|ENST00000465038,p.S28fs|NM_001024630,p.S28fs|uc011dvx.2,p.S28fs|ENST00000352853,p.S96fs|ENST00000576263,p.S28fs|ENST00000371438,p.S28fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc011dvy.2	frameshift deletion	exon3	c.84delC	p.S28fs	NFFWDPSTSRRFSPPSSSLQPGKMS	NFFWDPSTSRRFSPPPAACSPAK	5.0	10.0	unscreened	-	4180_6:45390355-45390355 C>-_NFFWDPSTSRRFSPPPAACSPAK
6:45390355-45390355 C>-	0.0	4180	BREAST	-	-	ID=COSM1444868,COSM1444867;OCCURENCE=4(large_intestine)	-	RUNX2	uc003oxt.3,p.S14fs|ENST00000478660,p.S14fs|NM_001278478,p.S14fs|ENST00000359524,p.S14fs|ENST00000371432,p.S14fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc003oxt.3	frameshift deletion	exon1	c.42delC	p.S14fs	RIPVDPSTSRRFSPPSSSLQPGKMS	RIPVDPSTSRRFSPPPAACSPAK	5.0	10.0	unscreened	-	4180_6:45390355-45390355 C>-_RIPVDPSTSRRFSPPPAACSPAK
17:72363830-72363830 ->G	0.0	4180	BREAST	-	-	-	-	GPR142	ENST00000335666,p.T62fs|uc021ucp.1,p.T59fs|uc010wqy.2,p.T62fs|NM_181790,p.T62fs|ENST00000585308,p.T62fs	protein_coding, nonsense_mediated_decay	uc021ucp.1	frameshift insertion	exon1	c.178dupG	p.T59fs	LSHSRWLRSPQVTGGSWDLRIRPSK	LSHSRWLRSPQVTGGKLGPPNKAIQGLQQFPPGSVSA	1.0	2.0	unscreened	-	4180_17:72363830-72363830 ->G_LSHSRWLRSPQVTGGKLGPPNKAIQGLQQFPPGSVSA
10:96970480-96970480 A>T	0.0	4180	BREAST	-	-	-	-	ACSM6	NM_207321,p.T229S|ENST00000341686,p.T229S|uc009xuu.1,p.T139S|uc001kke.3,p.T229S|ENST00000394005,p.T229S|ENST00000430183,p.T74S	protein_coding, nonsense_mediated_decay	uc009xuu.1	nonsynonymous SNV	exon5	c.A415T	p.T139S	SQDPMAIFFTKGTTGAPKMVEYSQY	SQDPMAIFFTKGSTGAPKMVEYSQY	1.0	10.0	unscreened	-	4180_10:96970480-96970480 A>T_SQDPMAIFFTKGSTGAPKMVEYSQY
15:65746746-65746746 A>G	1.0	4180	BREAST	-	-	-	-	DPP8	uc010bhi.3,p.I28T|ENST00000321118,p.I676T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bhi.3	nonsynonymous SNV	exon4	c.T83C	p.I28T	TVLFIYGGPQGQIEIDDQVEGLQYL	TVLFIYGGPQGQTEIDDQVEGLQYL	8.0	8.0	unscreened	-	4180_15:65746746-65746746 A>G_TVLFIYGGPQGQTEIDDQVEGLQYL
14:20010197-20010197 C>T	0.0	4180	BREAST	-	-	-	-	POTEM	ENST00000547848,p.V321I|uc001vwc.3,p.V321I|ENST00000551509,p.V321I|NM_001145442,p.V321I	protein_coding, nonsense_mediated_decay	uc001vwc.3	nonsynonymous SNV	exon5	c.G961A	p.V321I	LILAVCCGSASIVSLLLEQNIDVSS	LILAVCCGSASIISLLLEQNIDVSS	1.0	10.0	unscreened	-	4180_14:20010197-20010197 C>T_LILAVCCGSASIISLLLEQNIDVSS
3:93761985-93761985 ->A	1.0	4180	BREAST	-	-	-	-	ARL13B	uc003drc.3,p.Q309fs|ENST00000394222,p.Q309fs|ENST00000303097,p.Q202fs|uc003dre.3,p.Q294fs|uc003drd.3,p.Q202fs|uc003drf.3,p.Q309fs|uc003drg.3,p.Q206fs|ENST00000471138,p.Q309fs|NM_001174150,p.Q309fs|ENST00000539730,p.Q30fs|ENST00000535334,p.Q206fs|NM_144996,p.Q202fs|NM_182896,p.Q309fs|uc010hop.3,p.Q160fs|NM_001174151,p.Q206fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc010hop.3	frameshift insertion	exon5	c.479dupA	p.Q160fs	QIETQGQVNHNGQKNNEFGLVENYK	QIETQGQVNHNGQKK	6.0	5.0	unscreened	-	4180_3:93761985-93761985 ->A_QIETQGQVNHNGQKK
9:40773149-40773149 G>A	0.0	4180	BREAST	-	-	-	-	ZNF658	NM_033160,p.T709M|uc004abs.2,p.T709M|ENST00000602553,p.T709M|ENST00000377626,p.T709M|uc010mmn.1,p.T709M	protein_coding, nonsense_mediated_decay	uc010mmn.1	nonsynonymous SNV	exon5	c.C2126T	p.T709M	HNSALKIHQRIHTGEKPYECNECEK	HNSALKIHQRIHMGEKPYECNECEK	5.0	6.0	unscreened	-	4180_9:40773149-40773149 G>A_HNSALKIHQRIHMGEKPYECNECEK
11:65034968-65034968 G>A	1.0	4180	BREAST	-	-	-	-	POLA2	ENST00000527850,p.E34K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000527850	nonsynonymous SNV	exon2	c.G100A	p.E34K	ALIEKFSEQKIIESQA	ALIEKFSEQKIIKSQA	8.0	9.0	unscreened	-	4180_11:65034968-65034968 G>A_ALIEKFSEQKIIKSQA
15:65746746-65746746 A>G	1.0	4180	BREAST	-	-	-	-	DPP8	NM_197960,p.I725T|ENST00000341861,p.I725T|uc021soz.1,p.I709T|uc010bhj.3,p.I725T|uc002aov.3,p.I725T|ENST00000339244,p.I552T|ENST00000300141,p.I709T|NM_130434,p.I709T|uc010bhk.1,p.I294T|uc002aow.3,p.I725T|ENST00000559233,p.I725T|uc002aox.3,p.I709T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021soz.1	nonsynonymous SNV	exon17	c.T2126C	p.I709T	KFEGAFKYKMGQIEIDDQVEGLQYL	KFEGAFKYKMGQTEIDDQVEGLQYL	8.0	8.0	unscreened	-	4180_15:65746746-65746746 A>G_KFEGAFKYKMGQTEIDDQVEGLQYL
2:114500277-114500277 A>-	1.0	4180	BREAST	-	-	ID=COSM111375;OCCURENCE=2(ovary),9(large_intestine),1(pancreas)	-	SLC35F5	ENST00000409342,p.C242fs|uc002tkv.3,p.C242fs	retained_intron, protein_coding, processed_transcript	uc002tkv.3	frameshift deletion	exon7	c.724delT	p.C242fs	TATQVAKISFFFCFVVGLL	TATQVAKISFFFALW	6.0	10.0	unscreened	-	4180_2:114500277-114500277 A>-_TATQVAKISFFFALW
20:21689941-21689941 G>A	0.0	4180	BREAST	-	-	-	-	PAX1	ENST00000398485,p.A381T|uc010zsm.3,p.A357T|NM_006192,p.A381T|ENST00000444366,p.A357T|NM_001257096,p.A381T|uc002wsj.3,p.A381T|uc010zsl.3,p.A381T	retained_intron, protein_coding, processed_transcript	uc010zsm.3	nonsynonymous SNV	exon3	c.G1069A	p.A357T	AYPASNQHGVYSAPGGGYLAPGPPW	AYPASNQHGVYSTPGGGYLAPGPPW	1.0	8.0	unscreened	-	4180_20:21689941-21689941 G>A_AYPASNQHGVYSTPGGGYLAPGPPW
19:918607-918607 A>G	0.0	4180	BREAST	-	-	-	-	KISS1R	ENST00000234371,p.Y103C|NM_032551,p.Y103C|ENST00000606939,p.Y103C|uc002lqk.4,p.Y103C	protein_coding	uc002lqk.4	nonsynonymous SNV	exon2	c.A308G	p.Y103C	FLLCCVPFTALLYPLPGWVLGDFMC	FLLCCVPFTALLCPLPGWVLGDFMC	3.0	10.0	unscreened	-	4180_19:918607-918607 A>G_FLLCCVPFTALLCPLPGWVLGDFMC
18:28991219-28991219 ->G	0.0	4180	BREAST	-	-	-	-	DSG4	ENST00000359747,p.A740fs|NM_001134453,p.A740fs|uc002kwr.2,p.A740fs	protein_coding	uc002kwr.2	frameshift insertion	exon14	c.2221dupG	p.A740fs	PPFSEIYTNTYAAGGTVEGGVSGVE	PPFSEIYTNTYAAGGHGGRRCIGSGAQHRYGDSRWPHGRRGRRSLRGRKEEELYHGNPAGLR	1.0	9.0	unscreened	-	4180_18:28991219-28991219 ->G_PPFSEIYTNTYAAGGHGGRRCIGSGAQHRYGDSRWPHGRRGRRSLRGRKEEELYHGNPAGLR
18:28991219-28991219 ->G	0.0	4180	BREAST	-	-	-	-	DSG4	NM_177986,p.A721fs|ENST00000308128,p.A721fs|uc002kwq.2,p.A721fs	protein_coding	uc002kwq.2	frameshift insertion	exon15	c.2164dupG	p.A721fs	MDSSEIYTNTYAAGGTVEGGVSGVE	MDSSEIYTNTYAAGGHGGRRCIGSGAQHRYGDSRWPHGRRGRRSLRGRKEEELYHGNPAGLR	1.0	9.0	unscreened	-	4180_18:28991219-28991219 ->G_MDSSEIYTNTYAAGGHGGRRCIGSGAQHRYGDSRWPHGRRGRRSLRGRKEEELYHGNPAGLR
2:159035413-159035413 C>A	0.0	4180	BREAST	-	-	-	-	CCDC148	ENST00000283233,p.R489L|uc002tzq.3,p.R489L|uc010foh.3,p.R202L|NM_138803,p.R489L|uc002tzr.3,p.R337L|ENST00000409187,p.R498L|NM_001301684,p.R343L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010foh.3	nonsynonymous SNV	exon7	c.G605T	p.R202L	LQEAHEDKERARRLEALRKQVAVVA	LQEAHEDKERARLLEALRKQVAVVA	3.0	1.0	unscreened	-	4180_2:159035413-159035413 C>A_LQEAHEDKERARLLEALRKQVAVVA
5:127419665-127419665 G>A	0.0	4180	BREAST	-	-	-	-	SLC12A2	NM_001256461,p.A7T|uc010jdg.3,p.A7T|NM_001046,p.A7T|ENST00000343225,p.A7T|ENST00000509205,p.A7T|uc003kus.3,p.A7T|ENST00000262461,p.A7T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jdg.3	nonsynonymous SNV	exon1	c.G19A	p.A7T	MEPRPTAPSSGAPGLAGVG	MEPRPTTPSSGAPGLAGVG	7.0	6.0	unscreened	-	4180_5:127419665-127419665 G>A_MEPRPTTPSSGAPGLAGVG
1:32256313-32256313 C>T	0.0	4180	BREAST	-	-	ID=COSM393972;OCCURENCE=1(lung)	-	SPOCD1	uc001bts.1,p.R1181H|NM_001281988,p.R661H|NM_001281987,p.R1168H|ENST00000452755,p.R604H|NM_144569,p.R1181H|ENST00000257100,p.R661H|uc001btv.3,p.R661H|ENST00000533231,p.R1168H|uc001btu.3,p.R1168H|ENST00000360482,p.R1181H	retained_intron, protein_coding	uc001btv.3	nonsynonymous SNV	exon15	c.G1982A	p.R661H	PQTKSSIPRPLQRLSSALAAPEPPG	PQTKSSIPRPLQHLSSALAAPEPPG	5.0	5.0	unscreened	-	4180_1:32256313-32256313 C>T_PQTKSSIPRPLQHLSSALAAPEPPG
8:124140521-124140521 T>-	0.0	4180	BREAST	-	-	-	-	TBC1D31	NM_145647,p.F629fs|ENST00000327098,p.F629fs|uc003ypp.2,p.F629fs|ENST00000309336,p.F629fs|uc003ypu.2,p.F86fs|NM_001145088,p.F629fs|ENST00000522420,p.F524fs|ENST00000521676,p.F506fs|ENST00000378080,p.F524fs|ENST00000287380,p.F629fs|uc011lig.2,p.F629fs|uc011lih.2,p.F519fs	retained_intron, protein_coding, nonsense_mediated_decay	uc011lih.2	frameshift deletion	exon13	c.1555delT	p.F519fs	PLLSCNLKDDFEFFFHHRNNLDINV	PLLSCNLKDDFEFFFTIGITWI	7.0	4.0	unscreened	-	4180_8:124140521-124140521 T>-_PLLSCNLKDDFEFFFTIGITWI
8:142367285-142367285 G>A	0.0	4180	BREAST	-	-	-	-	GPR20	uc003ywf.3,p.L247F|NM_005293,p.L247F|ENST00000377741,p.L247F|uc022bby.1,p.L247F	protein_coding	uc022bby.1	nonsynonymous SNV	exon1	c.C739T	p.L247F	RRVRAMQLLLTVLIIFLVCFTPFHA	RRVRAMQLLLTVFIIFLVCFTPFHA	2.0	7.0	unscreened	-	4180_8:142367285-142367285 G>A_RRVRAMQLLLTVFIIFLVCFTPFHA
2:183951917-183951917 A>-	0.0	4180	BREAST	-	-	-	-	DUSP19	uc002upe.3,p.E102fs	protein_coding, processed_transcript	uc002upe.3	frameshift deletion	exon3	c.305delA	p.E102fs	NKNVLNLLKKQKEKMEWFLFIVMQA	NKNVLNLLKKQKERWSGSCSL	3.0	10.0	unscreened	-	4180_2:183951917-183951917 A>-_NKNVLNLLKKQKERWSGSCSL
4:138451489-138451489 G>A	0.0	4180	BREAST	-	-	ID=COSM1131251;OCCURENCE=1(prostate),1(large_intestine)	-	PCDH18	uc003ihf.4,p.T578M|uc003ihe.4,p.T585M|ENST00000507846,p.T365M|ENST00000344876,p.T585M|NM_001300828,p.T585M|ENST00000412923,p.T585M|uc003ihg.4,p.T365M|NM_019035,p.T585M	protein_coding	uc003ihg.4	nonsynonymous SNV	exon2	c.C1094T	p.T365M	VPVVIGPALRNNTAEITIPKGAESG	VPVVIGPALRNNMAEITIPKGAESG	5.0	7.0	unscreened	-	4180_4:138451489-138451489 G>A_VPVVIGPALRNNMAEITIPKGAESG
12:95689924-95689924 G>A	1.0	4180	BREAST	0.0023	-	-	-	VEZT	uc001tdv.3,p.R547H|ENST00000261219,p.R526H|uc001tdz.2,p.R574H|uc001tds.3,p.R526H|NM_017599,p.R574H|ENST00000397792,p.R530H|ENST00000436874,p.R574H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001tdz.2	nonsynonymous SNV	exon11	c.G1721A	p.R574H	YYLSQEDKERQKREHEESKRVLQEL	YYLSQEDKERQKHEHEESKRVLQEL	9.0	8.0	unscreened	-	4180_12:95689924-95689924 G>A_YYLSQEDKERQKHEHEESKRVLQEL
3:75787399-75787399 G>T	0.0	4180	BREAST	-	-	-	-	ZNF717	ENST00000422325,p.P459T|ENST00000400845,p.P452T|NM_001290209,p.P409T|uc011bgi.2,p.P459T|NM_001128223,p.P459T|NM_001290208,p.P459T|ENST00000478296,p.P409T	protein_coding, processed_transcript	uc011bgi.2	nonsynonymous SNV	exon5	c.C1375A	p.P459T	GEKPYECNECGKPFINKSNLRLHQR	GEKPYECNECGKTFINKSNLRLHQR	5.0	4.0	unscreened	-	4180_3:75787399-75787399 G>T_GEKPYECNECGKTFINKSNLRLHQR
12:49391431-49391431 T>C	0.0	4180	BREAST	-	-	-	-	DDN	ENST00000421952,p.T410A|uc001rsv.1,p.T410A|NM_015086,p.T410A	protein_coding	uc001rsv.1	nonsynonymous SNV	exon2	c.A1228G	p.T410A	SQTLPRPWAPGGTGWRESLGLGEGA	SQTLPRPWAPGGAGWRESLGLGEGA	5.0	9.0	unscreened	-	4180_12:49391431-49391431 T>C_SQTLPRPWAPGGAGWRESLGLGEGA
10:53458045-53458045 G>T	0.0	4180	BREAST	-	-	-	-	CSTF2T	NM_015235,p.A422D|uc001jjp.3,p.A422D|ENST00000331173,p.A422D	protein_coding	uc001jjp.3	nonsynonymous SNV	exon1	c.C1265A	p.A422D	RGGRDSRAMETRAMETEVLETRVME	RGGRDSRAMETRDMETEVLETRVME	7.0	2.0	unscreened	-	4180_10:53458045-53458045 G>T_RGGRDSRAMETRDMETEVLETRVME
2:127960990-127960990 C>T	0.0	4180	BREAST	-	-	-	-	CYP27C1	ENST00000409327,p.V46M|uc002tod.2,p.V46M|NM_001001665,p.V46M|uc021vnn.1,p.V46M|ENST00000335247,p.V46M	protein_coding	uc021vnn.1	nonsynonymous SNV	exon2	c.G136A	p.V46M	YLLRSQAEDGETVTNVNDLFFKYSM	YLLRSQAEDGETMTNVNDLFFKYSM	1.0	3.0	unscreened	-	4180_2:127960990-127960990 C>T_YLLRSQAEDGETMTNVNDLFFKYSM
7:100238316-100238316 T>C	0.0	4180	BREAST	-	-	-	-	TFR2	ENST00000462107,p.T156A|NM_003227,p.T156A|uc003uvv.1,p.T156A|ENST00000223051,p.T156A|ENST00000431692,p.T156A	retained_intron, protein_coding, nonsense_mediated_decay	uc003uvv.1	nonsynonymous SNV	exon3	c.A466G	p.T156A	FLQFLGEGRLEDTIRQTSLRERVAG	FLQFLGEGRLEDAIRQTSLRERVAG	7.0	6.0	unscreened	-	4180_7:100238316-100238316 T>C_FLQFLGEGRLEDAIRQTSLRERVAG
18:19154691-19154691 T>-	1.0	4180	BREAST	-	-	-	-	ESCO1	ENST00000383276,p.K38fs|uc002kth.1,p.K38fs|NM_052911,p.K38fs|ENST00000269214,p.K38fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc002kth.1	frameshift deletion	exon4	c.114delA	p.K38fs	TEIQDSQKNLAKKSGPKETIKSQAK	TEIQDSQKNLAKNQVQRRL	6.0	4.0	unscreened	-	4180_18:19154691-19154691 T>-_TEIQDSQKNLAKNQVQRRL
3:151156104-151156104 T>C	0.0	4180	BREAST	0.0009	-	-	-	IGSF10	NM_178822,p.N2082S|NM_001178146,p.N61S|ENST00000282466,p.N2082S|NM_001178145,p.N109S|uc011bod.2,p.N2082S|uc011boc.2,p.N61S|uc011bob.2,p.N109S	protein_coding, processed_transcript	uc011bod.2	nonsynonymous SNV	exon6	c.A6245G	p.N2082S	ISWSLPDGTMINNAMQADDSGHRTR	ISWSLPDGTMINSAMQADDSGHRTR	1.0	1.0	unscreened	-	4180_3:151156104-151156104 T>C_ISWSLPDGTMINSAMQADDSGHRTR
9:15666279-15666279 G>A	1.0	4180	BREAST	-	-	-	-	CCDC171	uc011lmu.2,p.R345Q|ENST00000297641,p.R345Q|uc003zmd.3,p.R345Q|ENST00000380701,p.R345Q|uc003zme.3,p.R252Q|uc010mih.1,p.R345Q|NM_173550,p.R345Q	protein_coding, processed_transcript	uc011lmu.2	nonsynonymous SNV	exon8	c.G1034A	p.R345Q	KNEFKEVESAYEREKHNAQESFAKL	KNEFKEVESAYEQEKHNAQESFAKL	6.0	5.0	unscreened	-	4180_9:15666279-15666279 G>A_KNEFKEVESAYEQEKHNAQESFAKL
8:77767090-77767090 A>-	0.0	4180	BREAST	-	-	-	-	ZFHX4	ENST00000518282,p.K2619fs|ENST00000521891,p.K2645fs|uc003yau.2,p.K2645fs|ENST00000050961,p.K2600fs|uc003yaw.1,p.K2600fs|ENST00000455469,p.K2600fs|NM_024721,p.K2645fs	retained_intron, protein_coding, nonsense_mediated_decay	uc003yaw.1	frameshift deletion	exon9	c.7798delA	p.K2600fs	KMLDHIAREVGLKKRVVQVWFQNTR	KMLDHIAREVGLKKGSCKSGSRIHERGRGKASSGRWVQHSLINGVRFAEPCLKQSRP	3.0	4.0	unscreened	-	4180_8:77767090-77767090 A>-_KMLDHIAREVGLKKGSCKSGSRIHERGRGKASSGRWVQHSLINGVRFAEPCLKQSRP
7:70886085-70886085 C>A	0.0	4180	BREAST	-	-	-	-	WBSCR17	uc003tvz.4,p.P18H|NM_022479,p.P319H|ENST00000333538,p.P319H|uc003tvy.4,p.P319H	protein_coding, processed_transcript	uc003tvz.4	nonsynonymous SNV	exon5	c.C53A	p.P18H	PKDWWDAGDPSLPIRTPAMIGCSFV	PKDWWDAGDPSLHIRTPAMIGCSFV	3.0	9.0	unscreened	-	4180_7:70886085-70886085 C>A_PKDWWDAGDPSLHIRTPAMIGCSFV
16:30119734-30119734 A>T	0.0	4180	BREAST	-	-	-	-	GDPD3	uc002dwq.3,p.C181S|ENST00000406256,p.C243S|NM_024307,p.C243S|uc002dwp.3,p.C243S	retained_intron, protein_coding, nonsense_mediated_decay	uc002dwq.3	nonsynonymous SNV	exon7	c.T541A	p.C181S	PNIINRTYFPFSCSCLNQLLAVVSK	PNIINRTYFPFSSSCLNQLLAVVSK	4.0	9.0	unscreened	-	4180_16:30119734-30119734 A>T_PNIINRTYFPFSSSCLNQLLAVVSK
3:49877797-49877798 CT>-	0.0	4180	BREAST	-	-	-	-	TRAIP	ENST00000469027,p.T83fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000469027	frameshift deletion	exon4	c.249_250del	p.T83fs	ENVLDAEFLKLQTVYSELDQAKLEL	ENVLDAEFLKLQTLL	8.0	2.0	unscreened	-	4180_3:49877797-49877798 CT>-_ENVLDAEFLKLQTLL
17:7256267-7256267 G>-	0.0	4180	BREAST	-	-	-	-	KCTD11	ENST00000333751,p.L2fs|NM_001002914,p.L2fs|uc002gge.4,p.L2fs	protein_coding, processed_transcript	uc002gge.4	frameshift deletion	exon1	c.6delG	p.L2fs	MLGAMFRAGTPMPP	MLGPCLGPAPPCPPTSIPKEAATTSSTGMARPSGTSSIS	6.0	3.0	unscreened	-	4180_17:7256267-7256267 G>-_MLGPCLGPAPPCPPTSIPKEAATTSSTGMARPSGTSSIS
5:86564511-86564511 G>-	0.0	4180	BREAST	-	-	-	-	RASA1	uc003kiw.3,p.L81fs|ENST00000515800,p.L81fs|NM_002890,p.L81fs|ENST00000274376,p.L81fs	retained_intron, protein_coding, nonsense_mediated_decay	uc003kiw.3	frameshift deletion	exon1	c.243delG	p.L81fs	SEFLGAGSVAGALGGAGLTGGGTAA	SEFLGAGSVAGALGELD	7.0	3.0	unscreened	-	4180_5:86564511-86564511 G>-_SEFLGAGSVAGALGELD
2:234969118-234969118 G>A	0.0	4180	BREAST	-	-	-	-	SPP2	uc010fyl.1,p.E67K|ENST00000425558,p.E67K|uc002vvk.1,p.E147K|ENST00000373368,p.E147K|ENST00000168148,p.E147K|NM_006944,p.E147K	protein_coding, processed_transcript	uc010fyl.1	nonsynonymous SNV	exon3	c.G199A	p.E67K	SWSSSTSESYSSEEMIFGDMLGSHK	SWSSSTSESYSSKEMIFGDMLGSHK	1.0	10.0	unscreened	-	4180_2:234969118-234969118 G>A_SWSSSTSESYSSKEMIFGDMLGSHK
9:96422612-96422612 A>-	0.0	4180	BREAST	-	-	ID=COSM198796;OCCURENCE=1(large_intestine),1(pancreas)	-	PHF2	NM_005392,p.K490fs|ENST00000359246,p.K490fs|uc004aub.3,p.K490fs|uc011lug.1,p.K373fs	protein_coding	uc011lug.1	frameshift deletion	exon12	c.1117delA	p.K373fs	ATPPQSLLEKVSKKKTPKTVKMPKP	ATPPQSLLEKVSKKRLPKL	7.0	4.0	unscreened	-	4180_9:96422612-96422612 A>-_ATPPQSLLEKVSKKRLPKL
8:40011230-40011230 C>T	0.0	4180	BREAST	-	-	-	-	C8orf4	uc003xnq.2,p.A60V|ENST00000315792,p.A60V|NM_020130,p.A60V	protein_coding	uc003xnq.2	nonsynonymous SNV	exon1	c.C179T	p.A60V	LERLFRNSGDKKAEERAKIIFAIDQ	LERLFRNSGDKKVEERAKIIFAIDQ	6.0	2.0	unscreened	-	4180_8:40011230-40011230 C>T_LERLFRNSGDKKVEERAKIIFAIDQ
1:24979025-24979025 C>T	1.0	4180	BREAST	-	-	-	-	SRRM1	NM_005839,p.P276S|uc010oel.2,p.P276S|ENST00000596378,p.P237S|ENST00000323848,p.P276S|uc009vri.1,p.P193S|ENST00000447431,p.P276S|ENST00000374389,p.P276S|uc001bjm.3,p.P276S|uc009vrh.1,p.P237S|ENST00000537199,p.P145S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010oel.2	nonsynonymous SNV	exon7	c.C826T	p.P276S	NSKKEKEKEKTRPRSRSRSKSRSRT	NSKKEKEKEKTRSRSRSRSKSRSRT	9.0	7.0	unscreened	-	4180_1:24979025-24979025 C>T_NSKKEKEKEKTRSRSRSRSKSRSRT
11:111953289-111953289 A>-	1.0	4180	BREAST	-	-	ID=COSM1351274;OCCURENCE=2(large_intestine),1(liver)	-	C11orf57	ENST00000532163,p.K130fs|NM_001301017,p.K158fs|NM_001301021,p.K129fs|uc001pmv.4,p.K158fs|NM_018195,p.K159fs|uc001pmt.4,p.K159fs|ENST00000525785,p.K130fs|uc001pmr.4,p.K158fs|NM_001082970,p.K158fs|NM_001082969,p.K159fs|ENST00000393047,p.K159fs|ENST00000280352,p.K158fs|uc001pmw.4,p.K159fs|uc001pms.4,p.K130fs|NM_001301019,p.K130fs|ENST00000420986,p.K158fs	protein_coding, nonsense_mediated_decay	uc001pmw.4	frameshift deletion	exon6	c.475delA	p.K159fs	ESRKHKKSKKSHKKKQKKRSHKKQK	ESRKHKKSKKSHKKSRKKGHTKNRRKAKRKPQI	9.0	6.0	unscreened	-	4180_11:111953289-111953289 A>-_ESRKHKKSKKSHKKSRKKGHTKNRRKAKRKPQI
8:70517043-70517043 T>C	0.0	4180	BREAST	-	-	-	-	SULF1	NM_001128205,p.F418S|uc003xyg.2,p.F418S|ENST00000419716,p.F418S|NM_015170,p.F418S|uc003xyf.2,p.F418S|NM_001128206,p.F418S|uc010lza.1,p.F418S|NM_001128204,p.F418S|uc003xye.2,p.F418S|uc003xyd.2,p.F418S|ENST00000402687,p.F418S|ENST00000260128,p.F418S|ENST00000458141,p.F418S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lza.1	nonsynonymous SNV	exon13	c.T1253C	p.F418S	IWRDTFLVERGKFLRKKEESSKNIQ	IWRDTFLVERGKSLRKKEESSKNIQ	9.0	6.0	unscreened	-	4180_8:70517043-70517043 T>C_IWRDTFLVERGKSLRKKEESSKNIQ
7:25182389-25182389 T>G	0.0	4180	BREAST	-	-	-	-	C7orf31	NM_138811,p.K243N|uc003sxn.1,p.K243N|ENST00000409280,p.K243N|ENST00000283905,p.K243N	protein_coding	uc003sxn.1	nonsynonymous SNV	exon8	c.A729C	p.K243N	RGVEKNKPVFYPKPPKTFAPNTSLN	RGVEKNKPVFYPNPPKTFAPNTSLN	4.0	2.0	unscreened	-	4180_7:25182389-25182389 T>G_RGVEKNKPVFYPNPPKTFAPNTSLN
3:42738590-42738590 C>T	0.0	4180	BREAST	0.0	-	-	-	HHATL	ENST00000310417,p.V305I|uc003clx.3,p.V305I|ENST00000441594,p.V305I|NM_020707,p.V305I|ENST00000457462,p.V240I|uc003clw.3,p.V305I	retained_intron, protein_coding	uc003clx.3	nonsynonymous SNV	exon8	c.G913A	p.V305I	YSNLVYDWVKAAVLFGVVNTVACLD	YSNLVYDWVKAAILFGVVNTVACLD	1.0	3.0	unscreened	-	4180_3:42738590-42738590 C>T_YSNLVYDWVKAAILFGVVNTVACLD
4:5838496-5838496 G>A	0.0	4180	BREAST	-	-	ID=COSM1310164;OCCURENCE=1(urinary_tract)	-	CRMP1	NM_001288662,p.A363V|ENST00000324989,p.A483V|NM_001313,p.A369V|ENST00000512574,p.A367V|uc003gis.3,p.A483V|uc003giq.3,p.A369V|ENST00000397890,p.A369V|uc003gir.3,p.A364V|NM_001014809,p.A483V|NM_001288661,p.A367V	protein_coding, processed_transcript	uc003gis.3	nonsynonymous SNV	exon10	c.C1448T	p.A483V	GIEERMTVVWDKAVATGKMDENQFV	GIEERMTVVWDKVVATGKMDENQFV	5.0	2.0	unscreened	-	4180_4:5838496-5838496 G>A_GIEERMTVVWDKVVATGKMDENQFV
19:48821751-48821751 G>A	0.0	4180	BREAST	-	-	-	-	CCDC114	NM_144577,p.R48W|ENST00000315396,p.R48W|uc002pio.3,p.R85W|uc002pir.2,p.R48W|uc002piu.1,p.R85W|uc002pit.1,p.R85W	retained_intron, protein_coding, processed_transcript	uc002piu.1	nonsynonymous SNV	exon5	c.C253T	p.R85W	QISAAQNQVKRLRDSQRLENMDRLL	QISAAQNQVKRLWDSQRLENMDRLL	4.0	2.0	unscreened	-	4180_19:48821751-48821751 G>A_QISAAQNQVKRLWDSQRLENMDRLL
2:197531519-197531520 AA>-	0.0	4180	BREAST	-	-	-	-	CCDC150	uc002uto.1,p.Q280fs|ENST00000389175,p.Q280fs|NM_001080539,p.Q280fs|uc002utp.1,p.Q280fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002utp.1	frameshift deletion	exon7	c.839_840del	p.Q280fs	SIQSAQELLAQEQKKKEELEIATSQ	SIQSAQELLAQEQKKRRVGDCYFTAQI	6.0	7.0	unscreened	-	4180_2:197531519-197531520 AA>-_SIQSAQELLAQEQKKRRVGDCYFTAQI
15:78393292-78393292 G>-	0.0	4180	BREAST	-	-	-	-	SH2D7	NM_001101404,p.E233fs|ENST00000409568,p.E97fs|ENST00000328828,p.E233fs|uc010blb.1,p.E233fs	protein_coding	uc010blb.1	frameshift deletion	exon5	c.697delG	p.E233fs	SPLPEKSSSLLEESFGGPSDIIYAD	SPLPEKSSSLLESLLEAPVTSSMQT	1.0	3.0	unscreened	-	4180_15:78393292-78393292 G>-_SPLPEKSSSLLESLLEAPVTSSMQT
19:57967190-57967190 A>G	0.0	4180	BREAST	-	-	-	-	VN1R1	ENST00000321039,p.V222A|NM_020633,p.V222A|uc002qos.2,p.V222A	protein_coding	uc002qos.2	nonsynonymous SNV	exon1	c.T665C	p.V222A	YKASKRFSSLHAVLYFSPDFMSLGF	YKASKRFSSLHAALYFSPDFMSLGF	2.0	7.0	unscreened	-	4180_19:57967190-57967190 A>G_YKASKRFSSLHAALYFSPDFMSLGF
1:1246380-1246380 T>C	1.0	4180	BREAST	-	-	-	-	PUSL1	ENST00000379031,p.L264P|NM_153339,p.L264P|ENST00000467712,p.L103P|uc010nyi.2,p.L103P|uc001aed.3,p.L264P	retained_intron, protein_coding, processed_transcript	uc010nyi.2	nonsynonymous SNV	exon6	c.T308C	p.L103P	AQVKTILESQDPLGKHQTRVAPAHG	AQVKTILESQDPPGKHQTRVAPAHG	9.0	3.0	unscreened	-	4180_1:1246380-1246380 T>C_AQVKTILESQDPPGKHQTRVAPAHG
12:80633176-80633176 G>A	0.0	4180	BREAST	-	-	-	-	OTOGL	uc001szd.3,p.D328N|ENST00000458043,p.D328N|ENST00000547103,p.D328N|NM_173591,p.D328N	protein_coding, nonsense_mediated_decay	uc001szd.3	nonsynonymous SNV	exon10	c.G982A	p.D328N	LQFPFLSCHEYIDPYLYIASCVNDL	LQFPFLSCHEYINPYLYIASCVNDL	2.0	2.0	unscreened	-	4180_12:80633176-80633176 G>A_LQFPFLSCHEYINPYLYIASCVNDL
5:156908819-156908819 G>T	0.0	4180	BREAST	-	-	-	-	ADAM19	ENST00000517905,p.L895M|uc011ddr.1,p.L826M	retained_intron, protein_coding, nonsense_mediated_decay	uc011ddr.1	nonsynonymous SNV	exon22	c.C2476A	p.L826M	RPPGAGPQQSRPLAALAPKVSPREA	RPPGAGPQQSRPMAALAPKVSPREA	7.0	7.0	unscreened	-	4180_5:156908819-156908819 G>T_RPPGAGPQQSRPMAALAPKVSPREA
1:151552208-151552208 ->GT	0.0	4180	BREAST	-	-	-	-	TUFT1	uc010pdg.2,p.E284fs|uc001eym.3,p.E311fs|ENST00000538902,p.E355fs|ENST00000392712,p.E281fs|NM_020127,p.E336fs|NM_001301317,p.E355fs|ENST00000353024,p.E277fs|NM_001126337,p.E311fs|ENST00000368849,p.E336fs|uc010pdf.2,p.E355fs|uc001eyl.3,p.E336fs|ENST00000368848,p.E311fs	retained_intron, protein_coding	uc010pdg.2	frameshift insertion	exon10	c.852_853insGT	p.E284fs	QELKEKIAYLEAENLEMHDRMEHLI	QELKEKIAYLEAEVI	8.0	4.0	unscreened	-	4180_1:151552208-151552208 ->GT_QELKEKIAYLEAEVI
11:64121595-64121595 G>C	0.0	4180	BREAST	-	-	-	-	CCDC88B	ENST00000356786,p.G1351A|uc009ypo.2,p.G1348A|uc001nzy.3,p.G1351A|NM_032251,p.G1351A|uc001oab.1,p.G182A	protein_coding, processed_transcript	uc009ypo.2	nonsynonymous SNV	exon24	c.G4043C	p.G1348A	GADGAGSTESLGGPPETELPEGREA	GADGAGSTESLGAPPETELPEGREA	8.0	9.0	unscreened	-	4180_11:64121595-64121595 G>C_GADGAGSTESLGAPPETELPEGREA
15:55912892-55912892 A>-	0.0	4180	BREAST	-	-	ID=COSM1373630;OCCURENCE=5(large_intestine)	-	PRTG	ENST00000389286,p.F1056fs|uc002adg.3,p.F1056fs|NM_173814,p.F1056fs	retained_intron, protein_coding, TEC	uc002adg.3	frameshift deletion	exon19	c.3167delT	p.F1056fs	IIKNNSKKKWFFFQDSKKIQVEQPQ	IIKNNSKKKWFFSKTQRRYKLSSLKEDLLQRSAFTSQAPLY	1.0	4.0	unscreened	-	4180_15:55912892-55912892 A>-_IIKNNSKKKWFFSKTQRRYKLSSLKEDLLQRSAFTSQAPLY
19:48722131-48722131 G>T	0.0	4180	BREAST	-	-	-	-	CARD8	ENST00000447740,p.P384T|ENST00000520153,p.P384T|ENST00000391898,p.P434T|uc002pih.4,p.P384T|uc021uwq.1,p.P328T|uc010xzl.2,p.P384T|ENST00000359009,p.P328T|uc010xzj.2,p.P434T|NM_001184900,p.P434T|uc002pig.4,p.P159T|ENST00000357778,p.P159T|NM_014959,p.P384T|uc010xzk.2,p.P353T|uc002pie.4,p.P328T|ENST00000519940,p.P434T|uc031rlm.1,p.P324T|ENST00000521613,p.P384T|NM_001184901,p.P384T|uc010xzi.1,p.P329T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rlm.1	nonsynonymous SNV	exon10	c.C970A	p.P324T	RHGTLVWDTEVKPVDLQLVAASAPP	RHGTLVWDTEVKTVDLQLVAASAPP	7.0	7.0	unscreened	-	4180_19:48722131-48722131 G>T_RHGTLVWDTEVKTVDLQLVAASAPP
1:205492500-205492500 C>-	0.0	4180	BREAST	-	-	-	-	CDK18	ENST00000504648,p.P67fs|ENST00000515494,p.P67fs|ENST00000512922,p.P67fs|ENST00000462976,p.P67fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000515494	frameshift deletion	exon1	c.199delC	p.P67fs	PDTPQSPSPPRPPPPHWP	PDTPQSPSPPRPPLPTGL	8.0	5.0	unscreened	-	4180_1:205492500-205492500 C>-_PDTPQSPSPPRPPLPTGL
11:134048586-134048586 G>-	0.0	4180	BREAST	-	-	ID=COSM1352746;OCCURENCE=2(large_intestine)	-	NCAPD3	NM_015261,p.Q909fs|uc001qhd.1,p.Q909fs|ENST00000534532,p.Q909fs|ENST00000534548,p.Q909fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001qhd.1	frameshift deletion	exon22	c.2725delC	p.Q909fs	GSSEAPASQPPPQVRGSVMPSVIRA	GSSEAPASQPPPRSEVLSCPL	7.0	2.0	unscreened	-	4180_11:134048586-134048586 G>-_GSSEAPASQPPPRSEVLSCPL
2:97276499-97276499 C>A	1.0	4180	BREAST	-	-	-	-	KANSL3	uc002swk.5,p.S329I|ENST00000441706,p.S341I|ENST00000420155,p.S428I|uc002swi.5,p.S329I|uc002swp.1,p.S329I|ENST00000599854,p.S341I|ENST00000431828,p.S428I|uc002swq.1,p.S200I|uc010fhz.4,p.S222I|uc002swn.5,p.S428I|uc002swh.5,p.S316I|NM_001115016,p.S428I|uc010yur.3,p.S222I|ENST00000440133,p.S222I|uc002swl.5,p.S329I|uc010fhy.2,p.S329I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yur.3	nonsynonymous SNV	exon10	c.G665T	p.S222I	MEDFREKIRAENSLVVVGGADDNLR	MEDFREKIRAENILVVVGGADDNLR	7.0	9.0	unscreened	-	4180_2:97276499-97276499 C>A_MEDFREKIRAENILVVVGGADDNLR
1:249212170-249212170 G>A	0.0	4180	BREAST	-	-	-	-	PGBD2	ENST00000355360,p.V212I|ENST00000329291,p.V463I|NM_170725,p.V463I|ENST00000539153,p.V460I|uc009xhd.3,p.V460I|uc001ifh.3,p.V463I|NM_001017434,p.V212I|uc021pmh.1,p.V212I|uc001ifg.3,p.V212I	protein_coding, processed_transcript	uc021pmh.1	nonsynonymous SNV	exon1	c.G634A	p.V212I	SLVKLYQEKVGGVGRMDQNIAKYKV	SLVKLYQEKVGGIGRMDQNIAKYKV	5.0	7.0	unscreened	-	4180_1:249212170-249212170 G>A_SLVKLYQEKVGGIGRMDQNIAKYKV
2:217525354-217525354 G>A	0.0	4180	BREAST	-	-	-	-	IGFBP2	uc010zju.2,p.G173R|ENST00000233809,p.G173R|ENST00000456764,p.G29R	retained_intron, protein_coding	uc010zju.2	nonsynonymous SNV	exon2	c.G517A	p.G173R	NHVDSTMNMLGGGGSAGRKPLKSGM	NHVDSTMNMLGGRGSAGRKPLKSGM	8.0	2.0	unscreened	-	4180_2:217525354-217525354 G>A_NHVDSTMNMLGGRGSAGRKPLKSGM
1:185931742-185931742 C>G	0.0	4180	BREAST	-	-	-	-	HMCN1	ENST00000367492,p.P641A|uc001grq.1,p.P641A|ENST00000271588,p.P641A|NM_031935,p.P641A	protein_coding, processed_transcript	uc001grq.1	nonsynonymous SNV	exon12	c.C1921G	p.P641A	VSIMCSATGYPKPKIAWTVNDMFIV	VSIMCSATGYPKAKIAWTVNDMFIV	5.0	3.0	unscreened	-	4180_1:185931742-185931742 C>G_VSIMCSATGYPKAKIAWTVNDMFIV
1:109794775-109794775 C>T	0.0	4180	BREAST	-	-	-	-	CELSR2	uc001dxa.4,p.R692W|ENST00000271332,p.R692W|NM_001408,p.R692W	protein_coding, processed_transcript	uc001dxa.4	nonsynonymous SNV	exon1	c.C2074T	p.R692W	QYVLAVTASDGTRQDTAQIVVNVTD	QYVLAVTASDGTWQDTAQIVVNVTD	5.0	2.0	unscreened	-	4180_1:109794775-109794775 C>T_QYVLAVTASDGTWQDTAQIVVNVTD
4:41629000-41629000 ->A	0.0	4180	BREAST	-	-	-	-	LIMCH1	uc003gvz.4,p.S334fs|ENST00000503057,p.S334fs	protein_coding, processed_transcript	uc003gvz.4	frameshift insertion	exon8	c.1002dupA	p.S334fs	KSDGSKQLSKGISKKRSLEYKRNQG	KSDGSKQLSKGISKKKKSRI	7.0	10.0	unscreened	-	4180_4:41629000-41629000 ->A_KSDGSKQLSKGISKKKKSRI
11:6555386-6555386 C>A	0.0	4180	BREAST	-	-	-	-	DNHD1	ENST00000527990,p.A994D|NM_144666,p.A994D|uc001mdw.4,p.A994D|ENST00000254579,p.A994D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001mdw.4	nonsynonymous SNV	exon14	c.C2981A	p.A994D	QNTVSDLSELHHAYAIFTEDETPVP	QNTVSDLSELHHDYAIFTEDETPVP	5.0	5.0	unscreened	-	4180_11:6555386-6555386 C>A_QNTVSDLSELHHDYAIFTEDETPVP
15:90192461-90192461 C>T	0.0	4180	BREAST	-	-	-	-	KIF7	uc002bof.2,p.V223M|ENST00000394412,p.V223M|uc002bog.2,p.V100M|NM_198525,p.V223M	protein_coding, processed_transcript, nonsense_mediated_decay	uc002bog.2	nonsynonymous SNV	exon4	c.G298A	p.V100M	NHLSSRSHTVFTVTLEQRGRAPSRL	NHLSSRSHTVFTMTLEQRGRAPSRL	4.0	4.0	unscreened	-	4180_15:90192461-90192461 C>T_NHLSSRSHTVFTMTLEQRGRAPSRL
9:109686954-109686954 G>A	0.0	4180	BREAST	-	-	-	-	ZNF462	uc010mto.3,p.R102H|ENST00000277225,p.R254H|ENST00000457913,p.R254H|uc004bcz.3,p.R254H|NM_021224,p.R254H|uc004bda.3,p.R102H	protein_coding, processed_transcript	uc010mto.3	nonsynonymous SNV	exon1	c.G305A	p.R102H	NFCCEWCSYQTPRRERWCDHMMKKH	NFCCEWCSYQTPHRERWCDHMMKKH	8.0	3.0	unscreened	-	4180_9:109686954-109686954 G>A_NFCCEWCSYQTPHRERWCDHMMKKH
7:54617844-54617844 ->A	0.0	4180	BREAST	-	-	-	-	VSTM2A	NM_182546,p.P205fs|uc010kzf.3,p.P205fs|ENST00000407838,p.P205fs	retained_intron, protein_coding, processed_transcript	uc010kzf.3	frameshift insertion	exon4	c.616dupA	p.P205fs	HSTSSPQVVAKIPKQSPQSGARIAT	HSTSSPQVVAKIPKTKSTIRCEDSYKPWTFCPASCLWLCEGCFAL	1.0	2.0	unscreened	-	4180_7:54617844-54617844 ->A_HSTSSPQVVAKIPKTKSTIRCEDSYKPWTFCPASCLWLCEGCFAL
12:40823464-40823464 C>A	0.0	4180	BREAST	-	-	-	-	MUC19	ENST00000425730,p.H255Q	retained_intron, protein_coding, processed_transcript	ENST00000425730	nonsynonymous SNV	exon14	c.C765A	p.H255Q	FDGVKYNFPGNCHFLAVHNEDWSIS	FDGVKYNFPGNCQFLAVHNEDWSIS	1.0	9.0	unscreened	-	4180_12:40823464-40823464 C>A_FDGVKYNFPGNCQFLAVHNEDWSIS
1:12785494-12785494 G>-	0.0	4180	BREAST	-	-	ID=COSM1333383,COSM1333384;OCCURENCE=1(central_nervous_system),1(skin),3(large_intestine)	-	AADACL3	uc009vnn.1,p.C195fs|uc001aug.1,p.C125fs|ENST00000332530,p.C125fs|ENST00000359318,p.C195fs	protein_coding	uc009vnn.1	frameshift deletion	exon4	c.584delG	p.C195fs	NIPLLTWSFICYCFFQNLDFSSSWQ	NIPLLTWSFICYFFFKTWISAPPGKRSS	1.0	4.0	unscreened	-	4180_1:12785494-12785494 G>-_NIPLLTWSFICYFFFKTWISAPPGKRSS
12:123648527-123648527 G>A	0.0	4180	BREAST	-	-	-	-	MPHOSPH9	ENST00000302349,p.P808S|uc010tal.2,p.P262S|ENST00000541076,p.P930S|ENST00000302373,p.P786S|uc001uem.3,p.P262S|ENST00000606320,p.P960S|NM_022782,p.P960S|uc001uel.3,p.P808S|ENST00000392425,p.P808S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tal.2	nonsynonymous SNV	exon14	c.C784T	p.P262S	RLNSASQRSSSLPPSNRKSSTPTKR	RLNSASQRSSSLSPSNRKSSTPTKR	7.0	1.0	unscreened	-	4180_12:123648527-123648527 G>A_RLNSASQRSSSLSPSNRKSSTPTKR
2:179666889-179666889 T>C	0.0	4180	BREAST	-	-	-	-	TTN	uc021vta.2,p.S91G|ENST00000360870,p.S91G|NM_133437,p.S91G|uc031rqc.1,p.S91G|ENST00000342175,p.S91G|uc002und.3,p.S91G|NM_133378,p.S91G|NM_001267550,p.S91G|NM_003319,p.S91G|NM_001256850,p.S91G|uc021vsy.2,p.S91G|ENST00000359218,p.S91G|ENST00000342992,p.S91G|uc031rqd.1,p.S91G|uc021vtb.2,p.S91G|ENST00000589042,p.S91G|ENST00000591111,p.S91G|NM_133432,p.S91G|uc002unb.3,p.S91G|uc021vsz.2,p.S91G|ENST00000460472,p.S91G|NM_133379,p.S91G	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon3	c.A271G	p.S91G	SLKATNGSGQATSTAELLVKAETAP	SLKATNGSGQATGTAELLVKAETAP	2.0	3.0	unscreened	-	4180_2:179666889-179666889 T>C_SLKATNGSGQATGTAELLVKAETAP
10:43596168-43596168 G>A	0.0	4180	BREAST	-	-	-	1	RET	NM_020630,p.R112H|ENST00000355710,p.R112H|ENST00000340058,p.R112H|NM_020975,p.R112H|uc001jak.1,p.R112H|uc001jal.3,p.R112H	retained_intron, protein_coding	uc001jal.3	nonsynonymous SNV	exon2	c.G335A	p.R112H	SLDHSSWEKLSVRNRGFPLLTVYLK	SLDHSSWEKLSVHNRGFPLLTVYLK	3.0	1.0	unscreened	-	4180_10:43596168-43596168 G>A_SLDHSSWEKLSVHNRGFPLLTVYLK
10:98808750-98808750 C>T	0.0	4180	BREAST	-	-	-	-	SLIT1	ENST00000371070,p.R476H|NM_003061,p.R476H|ENST00000314867,p.R469H|ENST00000266058,p.R476H|uc009xvh.1,p.R486H|uc001kmw.2,p.R476H	protein_coding, processed_transcript	uc009xvh.1	nonsynonymous SNV	exon14	c.G1457A	p.R486H	ARCASPRRLANKRIGQIKSKKFRCS	ARCASPRRLANKHIGQIKSKKFRCS	2.0	10.0	unscreened	-	4180_10:98808750-98808750 C>T_ARCASPRRLANKHIGQIKSKKFRCS
5:140732236-140732236 C>A	0.0	4180	BREAST	-	-	-	-	PCDHGB1	uc003ljo.2,p.H803Q|ENST00000523390,p.H803Q|NM_018922,p.H803Q	protein_coding	uc003ljo.2	nonsynonymous SNV	exon1	c.C2409A	p.H803Q	DHKIAYDPSLSSHQAPPNTDWRFSQ	DHKIAYDPSLSSQQAPPNTDWRFSQ	4.0	3.0	unscreened	-	4180_5:140732236-140732236 C>A_DHKIAYDPSLSSQQAPPNTDWRFSQ
16:16218674-16218674 G>A	0.0	4180	BREAST	-	-	-	-	ABCC1	NM_004996,p.G1207S|ENST00000351154,p.G1148S|uc010bvi.3,p.G1207S|ENST00000346370,p.G1151S|ENST00000399408,p.G1217S|ENST00000399410,p.G1207S|ENST00000345148,p.G1207S|ENST00000349029,p.G1092S|uc002del.4,p.G1101S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bvi.3	nonsynonymous SNV	exon25	c.G3619A	p.G1207S	ANRWLAVRLECVGNCIVLFAALFAV	ANRWLAVRLECVSNCIVLFAALFAV	7.0	4.0	unscreened	-	4180_16:16218674-16218674 G>A_ANRWLAVRLECVSNCIVLFAALFAV
7:138552842-138552842 C>T	1.0	4180	BREAST	-	-	-	2	KIAA1549	NM_020910,p.R1603Q|ENST00000422774,p.R1603Q|ENST00000242365,p.R1553Q|ENST00000440172,p.R1603Q|NM_001164665,p.R1603Q|uc011kql.2,p.R1603Q|uc011kqj.2,p.R1603Q|uc011kqk.2,p.R387Q|uc011kqi.2,p.R387Q	protein_coding	uc011kql.2	nonsynonymous SNV	exon15	c.G4808A	p.R1603Q	KSSRIKRSPKPRRKHQVNGCPADAE	KSSRIKRSPKPRQKHQVNGCPADAE	5.0	9.0	unscreened	-	4180_7:138552842-138552842 C>T_KSSRIKRSPKPRQKHQVNGCPADAE
12:123648527-123648527 G>A	0.0	4180	BREAST	-	-	-	-	MPHOSPH9	ENST00000606321,p.P151S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000606321	nonsynonymous SNV	exon4	c.C451T	p.P151S	RLNSASQRSSSLPPSNRKSSTPSKS	RLNSASQRSSSLSPSNRKSSTPSKS	7.0	1.0	unscreened	-	4180_12:123648527-123648527 G>A_RLNSASQRSSSLSPSNRKSSTPSKS
1:22191394-22191394 C>T	0.0	4180	BREAST	-	-	-	-	HSPG2	NM_001291860,p.R1524H|uc001bfj.3,p.R1523H|uc009vqd.3,p.R1524H|NM_005529,p.R1523H|ENST00000374695,p.R1523H	protein_coding, processed_transcript, nonsense_mediated_decay	uc009vqd.3	nonsynonymous SNV	exon36	c.G4571A	p.R1524H	LEVAQPGPSNRPRALEVEECRCPPG	LEVAQPGPSNRPHALEVEECRCPPG	8.0	8.0	unscreened	-	4180_1:22191394-22191394 C>T_LEVAQPGPSNRPHALEVEECRCPPG
14:101004530-101004530 C>-	0.0	4180	BREAST	-	-	-	-	BEGAIN	uc001yhp.3,p.D456fs|ENST00000556751,p.D456fs|uc001yhq.3,p.D520fs|NM_020836,p.D520fs|NM_001159531,p.D520fs|ENST00000355173,p.D520fs|uc010txa.2,p.D520fs|ENST00000443071,p.D520fs	retained_intron, protein_coding, processed_transcript	uc010txa.2	frameshift deletion	exon6	c.1558delG	p.D520fs	DPLPGYAPSEGGDGDRLGVQLCGTA	DPLPGYAPSEGGTGTGSGCSCVGPPAALSPSRVPGTPWSRAPWRPPRKCILPPASAPSRPFRGLVARG	2.0	1.0	unscreened	-	4180_14:101004530-101004530 C>-_DPLPGYAPSEGGTGTGSGCSCVGPPAALSPSRVPGTPWSRAPWRPPRKCILPPASAPSRPFRGLVARG
12:24989497-24989497 A>G	0.0	4180	BREAST	-	-	-	-	BCAT1	ENST00000342945,p.I223T|uc001rge.4,p.I223T|ENST00000261192,p.I284T|ENST00000539780,p.I247T|uc001rgc.3,p.I283T|NM_001178091,p.I247T|NM_005504,p.I284T|ENST00000539282,p.I296T|NM_001178092,p.I223T|uc010siy.2,p.I247T|ENST00000538118,p.I283T|NM_001178093,p.I296T|NM_001178094,p.I283T|uc001rgd.4,p.I284T|uc010six.2,p.I296T	protein_coding, processed_transcript	uc010siy.2	nonsynonymous SNV	exon7	c.T740C	p.I247T	GEEELATPPLDGIILPGVTRRCILD	GEEELATPPLDGTILPGVTRRCILD	6.0	8.0	unscreened	-	4180_12:24989497-24989497 A>G_GEEELATPPLDGTILPGVTRRCILD
3:46621312-46621312 G>A	0.0	4180	BREAST	-	-	-	-	TDGF1	NM_003212,p.G103R|uc021wxd.1,p.G87R|uc003cpv.3,p.G103R|ENST00000542931,p.G87R|NM_001174136,p.G87R|ENST00000296145,p.G103R	retained_intron, protein_coding, processed_transcript	uc021wxd.1	nonsynonymous SNV	exon4	c.G259A	p.G87R	LGSFCACPPSFYGRNCEHDVRKENC	LGSFCACPPSFYRRNCEHDVRKENC	2.0	10.0	unscreened	-	4180_3:46621312-46621312 G>A_LGSFCACPPSFYRRNCEHDVRKENC
2:96781308-96781308 C>T	0.0	4180	BREAST	-	-	-	-	ADRA2B	ENST00000409345,p.R194H|uc021vlh.1,p.R194H|NM_000682,p.R194H	protein_coding	uc021vlh.1	nonsynonymous SNV	exon1	c.G581A	p.R194H	FAPCLIMILVYLRIYLIAKRSNRRG	FAPCLIMILVYLHIYLIAKRSNRRG	3.0	5.0	unscreened	-	4180_2:96781308-96781308 C>T_FAPCLIMILVYLHIYLIAKRSNRRG
19:22941655-22941655 C>A	0.0	4180	BREAST	-	-	-	-	ZNF99	ENST00000596209,p.Q352H|NM_001080409,p.Q352H|uc021urt.1,p.Q352H|ENST00000397104,p.Q261H	protein_coding	uc021urt.1	nonsynonymous SNV	exon4	c.G1056T	p.Q352H	PYKCEECGKAFSQSSTLRKHEIIHT	PYKCEECGKAFSHSSTLRKHEIIHT	1.0	4.0	unscreened	-	4180_19:22941655-22941655 C>A_PYKCEECGKAFSHSSTLRKHEIIHT
17:71377075-71377075 G>A	0.0	4180	BREAST	-	-	-	-	SDK2	NM_001144952,p.R1574W|ENST00000392650,p.R1574W|uc010dfn.2,p.R1253W|uc010dfm.3,p.R1574W	retained_intron, protein_coding, processed_transcript	uc010dfn.2	nonsynonymous SNV	exon27	c.C3757T	p.R1253W	ATWAELTSMYSMRNLSRPSLTQYEL	ATWAELTSMYSMWNLSRPSLTQYEL	3.0	7.0	unscreened	-	4180_17:71377075-71377075 G>A_ATWAELTSMYSMWNLSRPSLTQYEL
11:6650805-6650805 ->C	0.0	4180	BREAST	-	-	-	-	DCHS1	NM_003737,p.A1680fs|uc001mem.1,p.A1680fs|ENST00000299441,p.A1680fs	protein_coding	uc001mem.1	frameshift insertion	exon12	c.5038dupG	p.A1680fs	LLTLRATDPDVGANGQVTYGGVSSE	LLTLRATDPDVGGQRASDLWRRL	5.0	9.0	unscreened	-	4180_11:6650805-6650805 ->C_LLTLRATDPDVGGQRASDLWRRL
11:6555386-6555386 C>A	0.0	4180	BREAST	-	-	-	-	DNHD1	ENST00000532027,p.A78D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000532027	nonsynonymous SNV	exon1	c.C233A	p.A78D	QNTVSDLSELHHAYAIFTGTEDPCT	QNTVSDLSELHHDYAIFTGTEDPCT	5.0	5.0	unscreened	-	4180_11:6555386-6555386 C>A_QNTVSDLSELHHDYAIFTGTEDPCT
13:113742063-113742063 A>G	0.0	4180	BREAST	-	-	-	-	MCF2L	ENST00000375604,p.K937E|ENST00000397030,p.K913E|uc001vss.4,p.K878E|uc010tjs.2,p.K878E|ENST00000423482,p.K878E|uc031qnl.1,p.K884E|ENST00000375608,p.K910E|ENST00000434480,p.K886E|uc031qnk.1,p.K913E|NM_024979,p.K878E|NM_001112732,p.K880E|ENST00000421756,p.K884E|uc010tjr.2,p.K880E|ENST00000375601,p.K884E|ENST00000535094,p.K880E|ENST00000442652,p.K910E|ENST00000375597,p.K878E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qnl.1	nonsynonymous SNV	exon23	c.A2650G	p.K884E	AVGITENVKGDAKKFEIWYNAREEV	AVGITENVKGDAEKFEIWYNAREEV	7.0	1.0	unscreened	-	4180_13:113742063-113742063 A>G_AVGITENVKGDAEKFEIWYNAREEV
8:30694478-30694478 C>A	0.0	4180	BREAST	-	-	-	-	TEX15	NM_031271,p.G2725C|uc003xil.3,p.G2725C|ENST00000256246,p.G2725C	protein_coding, processed_transcript	uc003xil.3	nonsynonymous SNV	exon3	c.G8173T	p.G2725C	YFTYFAGEPQANGFVPVNGYFQSQI	YFTYFAGEPQANCFVPVNGYFQSQI	1.0	10.0	unscreened	-	4180_8:30694478-30694478 C>A_YFTYFAGEPQANCFVPVNGYFQSQI
1:39924160-39924160 G>A	1.0	4180	BREAST	-	-	-	-	MACF1	ENST00000567887,p.G7102D|ENST00000539005,p.G4876D|ENST00000289893,p.G5508D|ENST00000317713,p.G5006D|uc031pme.1,p.G1062D|ENST00000545844,p.G5006D|NM_012090,p.G5006D|ENST00000372915,p.G6964D|uc021olt.1,p.G5006D|ENST00000564288,p.G7065D|ENST00000361689,p.G5006D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pme.1	nonsynonymous SNV	exon20	c.G3185A	p.G1062D	THAPFIEKSRSGGRKSLSQPTPPPM	THAPFIEKSRSGDRKSLSQPTPPPM	9.0	9.0	-	-	4180_1:39924160-39924160 G>A_THAPFIEKSRSGDRKSLSQPTPPPM
17:40825491-40825491 C>-	1.0	4180	BREAST	-	-	-	-	PLEKHH3	ENST00000293349,p.V192fs|ENST00000591196,p.V192fs|NM_024927,p.V192fs|uc002iau.3,p.V192fs|ENST00000412503,p.V192fs|ENST00000591022,p.V192fs|uc002iaw.2,p.V192fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002iaw.2	frameshift deletion	exon5	c.574delG	p.V192fs	CSPRQAEAERWGVALREVIASKAPL	CSPRQAEAERWGWHCGK	8.0	5.0	unscreened	-	4180_17:40825491-40825491 C>-_CSPRQAEAERWGWHCGK
20:45354553-45354553 G>A	1.0	4180	BREAST	-	-	-	-	SLC2A10	uc002xsl.3,p.R293H|NM_030777,p.R293H|ENST00000359271,p.R293H	protein_coding, processed_transcript	uc002xsl.3	nonsynonymous SNV	exon2	c.G878A	p.R293H	VAATLTAMGLVDRAGRRALLLAGCA	VAATLTAMGLVDHAGRRALLLAGCA	6.0	5.0	unscreened	-	4180_20:45354553-45354553 G>A_VAATLTAMGLVDHAGRRALLLAGCA
10:68687696-68687696 C>T	0.0	4180	BREAST	-	-	-	-	LRRTM3	uc001jmz.1,p.A341V|uc001jmy.3,p.A341V|NM_178011,p.A341V|ENST00000361320,p.A341V	protein_coding, processed_transcript	uc001jmz.1	nonsynonymous SNV	exon2	c.C1022T	p.A341V	SFKGLRENTIICASPKELQGVNVID	SFKGLRENTIICVSPKELQGVNVID	1.0	10.0	unscreened	-	4180_10:68687696-68687696 C>T_SFKGLRENTIICVSPKELQGVNVID
3:121155116-121155116 G>A	1.0	4180	BREAST	-	-	-	1	POLQ	ENST00000264233,p.R2466C|uc003eee.4,p.R2466C|uc003eed.3,p.R1638C|NM_199420,p.R2466C	protein_coding, processed_transcript	uc003eee.4	nonsynonymous SNV	exon28	c.C7396T	p.R2466C	KDNNPYRKAHAERQAINTIVQGSAA	KDNNPYRKAHAECQAINTIVQGSAA	6.0	6.0	unscreened	-	4180_3:121155116-121155116 G>A_KDNNPYRKAHAECQAINTIVQGSAA
1:186057112-186057112 C>T	0.0	4180	BREAST	0.0005	-	ID=COSM123620;OCCURENCE=1(endometrium),1(upper_aerodigestive_tract)	-	HMCN1	uc001grq.1,p.R3138W|ENST00000271588,p.R3138W|NM_031935,p.R3138W|ENST00000367492,p.R3138W	protein_coding, processed_transcript	uc001grq.1	nonsynonymous SNV	exon61	c.C9412T	p.R3138W	GQYVCRAINVAGRDDKNFHLNVYVP	GQYVCRAINVAGWDDKNFHLNVYVP	5.0	3.0	unscreened	-	4180_1:186057112-186057112 C>T_GQYVCRAINVAGWDDKNFHLNVYVP
3:151474903-151474903 A>G	0.0	4180	BREAST	-	-	-	-	AADACL2	uc003ezc.3,p.R243G|uc010hvn.3,p.R30G|ENST00000356517,p.R243G|NM_207365,p.R243G	protein_coding, nonsense_mediated_decay	uc010hvn.3	nonsynonymous SNV	exon4	c.A88G	p.R30G	SHRENEHGIVLTRDVAIKLVSLYFT	SHRENEHGIVLTGDVAIKLVSLYFT	1.0	3.0	unscreened	-	4180_3:151474903-151474903 A>G_SHRENEHGIVLTGDVAIKLVSLYFT
17:35300395-35300395 C>-	0.0	4180	BREAST	-	-	ID=COSM1382601;OCCURENCE=3(large_intestine)	-	LHX1	ENST00000254457,p.H396fs|uc002hnh.2,p.H396fs|NM_005568,p.H396fs	retained_intron, protein_coding, processed_transcript	uc002hnh.2	frameshift deletion	exon5	c.1188delC	p.H396fs	VNGGASYGNHLSHPPEMNEAAVW	VNGGASYGNHLSHPPK	2.0	4.0	unscreened	-	4180_17:35300395-35300395 C>-_VNGGASYGNHLSHPPK
11:61915968-61915968 A>G	1.0	4180	BREAST	-	-	-	-	INCENP	uc001nsw.1,p.K742R|ENST00000278849,p.K738R|NM_001040694,p.K742R|uc001nsx.1,p.K738R|uc009ynw.1,p.K746R|ENST00000394818,p.K742R|NM_020238,p.K738R	retained_intron, protein_coding, processed_transcript	uc009ynw.1	nonsynonymous SNV	exon16	c.A2237G	p.K746R	RLQAERELQEREKALRLQKEQLQRE	RLQAERELQERERALRLQKEQLQRE	8.0	9.0	-	-	4180_11:61915968-61915968 A>G_RLQAERELQERERALRLQKEQLQRE
12:56720672-56720672 ->C	0.0	4180	BREAST	-	-	-	-	PAN2	ENST00000548043,p.P331fs|NM_001127460,p.P331fs|uc001skz.3,p.P331fs|ENST00000257931,p.P331fs|ENST00000440411,p.P331fs|ENST00000425394,p.P331fs|NM_014871,p.P331fs|uc001sky.3,p.P331fs|NM_001166279,p.P331fs|uc001skx.3,p.P331fs	retained_intron, protein_coding, processed_transcript	uc001skz.3	frameshift insertion	exon7	c.990dupG	p.P331fs	NPADIFHVNPVGPLLMTFDVSASKQ	NPADIFHVNPVGASANDI	6.0	1.0	unscreened	-	4180_12:56720672-56720672 ->C_NPADIFHVNPVGASANDI
19:22499777-22499777 A>C	0.0	4180	BREAST	-	-	-	-	ZNF729	NM_001242680,p.K1186N|ENST00000601693,p.K1186N|uc021urs.1,p.K1186N	protein_coding	uc021urs.1	nonsynonymous SNV	exon4	c.A3558C	p.K1186N	HLTRHKTIHTGEKPYKCEECGKAFI	HLTRHKTIHTGENPYKCEECGKAFI	1.0	4.0	unscreened	-	4180_19:22499777-22499777 A>C_HLTRHKTIHTGENPYKCEECGKAFI
2:166245225-166245225 C>A	0.0	4180	BREAST	-	-	-	-	SCN2A	uc021vry.1,p.L137I|NM_021007,p.L1637I|ENST00000375427,p.L1637I|uc002ude.3,p.L1637I|NM_001040143,p.L1637I|ENST00000357398,p.L1637I|uc002udd.3,p.L1637I|uc002udc.3,p.L1637I|NM_001040142,p.L1637I|ENST00000283256,p.L1637I|ENST00000375437,p.L1637I	retained_intron, protein_coding	uc021vry.1	nonsynonymous SNV	exon3	c.C409A	p.L137I	FRVIRLARIGRILRLIKGAKGIRTL	FRVIRLARIGRIIRLIKGAKGIRTL	2.0	5.0	unscreened	-	4180_2:166245225-166245225 C>A_FRVIRLARIGRIIRLIKGAKGIRTL
1:114940316-114940316 C>T	0.0	4180	BREAST	-	-	ID=COSM1497696;OCCURENCE=1(lung)	1	TRIM33	ENST00000450349,p.R745H|NM_015906,p.R1113H|ENST00000358465,p.R1113H|uc001eex.3,p.R1096H|ENST00000369543,p.R1096H|uc010ows.2,p.R745H|uc001eew.3,p.R1113H|uc010owr.2,p.R727H|NM_033020,p.R1096H	protein_coding, processed_transcript	uc010ows.2	nonsynonymous SNV	exon19	c.G2234A	p.R745H	VTEDSDEDFIQPRRKRLKSDERPVH	VTEDSDEDFIQPHRKRLKSDERPVH	10.0	1.0	unscreened	-	4180_1:114940316-114940316 C>T_VTEDSDEDFIQPHRKRLKSDERPVH
11:36595921-36595921 T>C	0.0	4180	BREAST	-	-	-	-	RAG1	NM_000448,p.V356A|uc021qgb.1,p.V356A|ENST00000534663,p.V356A|uc001mwu.4,p.V356A|ENST00000299440,p.V356A	protein_coding, processed_transcript, nonsense_mediated_decay	uc021qgb.1	nonsynonymous SNV	exon1	c.T1067C	p.V356A	VKSFLSVLNSLMVKCPAKECNEEVS	VKSFLSVLNSLMAKCPAKECNEEVS	2.0	3.0	unscreened	-	4180_11:36595921-36595921 T>C_VKSFLSVLNSLMAKCPAKECNEEVS
7:149556595-149556595 G>-	0.0	4180	BREAST	-	-	-	-	ZNF862	NM_001099220,p.W401fs|uc010lpn.3,p.W401fs|ENST00000223210,p.W401fs	retained_intron, protein_coding, processed_transcript	uc010lpn.3	frameshift deletion	exon6	c.1202delG	p.W401fs	AAPWIKDPNGPKWGKGRPPGNKKMV	AAPWIKDPNGPKWGKVVLQGTRRWWQ	6.0	8.0	unscreened	-	4180_7:149556595-149556595 G>-_AAPWIKDPNGPKWGKVVLQGTRRWWQ
3:134278216-134278216 ->T	0.0	4180	BREAST	-	-	-	-	CEP63	NM_025180,p.N633fs|ENST00000513612,p.N633fs|ENST00000606977,p.N633fs|uc003eqo.1,p.N633fs|ENST00000337090,p.N633fs	retained_intron, protein_coding, processed_transcript	uc003eqo.1	frameshift insertion	exon15	c.1899dupT	p.N633fs	HSLPSALDTNEANFSDTMSESMNDQ	HSLPSALDTNEANFF	8.0	8.0	unscreened	-	4180_3:134278216-134278216 ->T_HSLPSALDTNEANFF
3:75786252-75786252 G>T	0.0	4180	BREAST	-	rs79138891	-	-	ZNF717	NM_001290208,p.P841H|ENST00000478296,p.P791H|NM_001290209,p.P791H|ENST00000400845,p.P834H|NM_001128223,p.P841H|ENST00000422325,p.P841H|uc011bgi.2,p.P841H	protein_coding, processed_transcript	uc011bgi.2	nonsynonymous SNV	exon5	c.C2522A	p.P841H	LFVHHRTHTGEKPFRCNECRKTFSQ	LFVHHRTHTGEKHFRCNECRKTFSQ	5.0	7.0	unscreened	-	4180_3:75786252-75786252 G>T_LFVHHRTHTGEKHFRCNECRKTFSQ
X:117959495-117959495 G>T	0.0	4180	BREAST	-	-	-	-	ZCCHC12	NM_173798,p.E96D|uc022cdh.1,p.E96D|ENST00000310164,p.E96D|uc004equ.3,p.E96D	protein_coding	uc022cdh.1	nonsynonymous SNV	exon1	c.G288T	p.E96D	KRLMKTLRGPAREVMRVLQATNPNL	KRLMKTLRGPARDVMRVLQATNPNL	1.0	10.0	unscreened	-	4180_X:117959495-117959495 G>T_KRLMKTLRGPARDVMRVLQATNPNL
2:157185029-157185029 T>-	0.0	4180	BREAST	-	-	ID=COSM1400249;OCCURENCE=2(large_intestine)	-	NR4A2	ENST00000539077,p.N305fs|ENST00000417764,p.N231fs|ENST00000417972,p.N231fs|ENST00000409108,p.N294fs|uc010zcf.2,p.N294fs|uc002tyz.4,p.N294fs|NM_006186,p.N294fs|ENST00000339562,p.N294fs|ENST00000429376,p.N231fs|uc021vri.1,p.N294fs|ENST00000409572,p.N294fs|ENST00000426264,p.N231fs|uc002tyx.4,p.N231fs	protein_coding, nonsense_mediated_decay	uc021vri.1	frameshift deletion	exon2	c.881delA	p.N294fs	GCKGFFKRTVQKNAKYVCLANKNCP	GCKGFFKRTVQKMQNTCV	6.0	8.0	unscreened	-	4180_2:157185029-157185029 T>-_GCKGFFKRTVQKMQNTCV
22:28194727-28194727 T>G	0.0	4180	BREAST	-	-	-	1	MN1	NM_002430,p.N602T|ENST00000302326,p.N602T|uc003adj.3,p.N602T	protein_coding, processed_transcript, nonsense_mediated_decay	uc003adj.3	nonsynonymous SNV	exon1	c.A1805C	p.N602T	VHGGPVGGLAQPNFEREGGSTGAGR	VHGGPVGGLAQPTFEREGGSTGAGR	2.0	1.0	unscreened	-	4180_22:28194727-28194727 T>G_VHGGPVGGLAQPTFEREGGSTGAGR
20:56735727-56735727 C>-	0.0	4180	BREAST	-	-	ID=COSM1412698;OCCURENCE=1(NS),2(large_intestine)	-	C20orf85	NM_178456,p.S88fs|uc002xyv.3,p.S88fs|ENST00000371168,p.S88fs	protein_coding	uc002xyv.3	frameshift deletion	exon4	c.263delC	p.S88fs	VTPVEKYIKVFPSPPVPQTTQGFIG	VTPVEKYIKVFPSPQSHRPPRASSAGDLQCQA	3.0	10.0	unscreened	-	4180_20:56735727-56735727 C>-_VTPVEKYIKVFPSPQSHRPPRASSAGDLQCQA
12:133198121-133198121 G>A	0.0	4180	BREAST	0.0	-	-	-	P2RX2	uc001uki.1,p.G353R|uc001ukl.1,p.G329R|NM_174873,p.G353R|ENST00000350048,p.G329R|ENST00000389110,p.G353R|NM_170682,p.G353R|NM_012226,p.G281R|NM_001282164,p.G319R|ENST00000348800,p.G353R|ENST00000449132,p.G319R|uc001ukn.1,p.G261R|NM_016318,p.G329R|ENST00000352418,p.G281R|ENST00000351222,p.G261R|uc001ukj.1,p.G353R|NM_174872,p.G261R|uc001uko.1,p.G319R|uc001ukm.1,p.G281R	protein_coding	uc001uko.1	nonsynonymous SNV	exon9	c.G955A	p.G319R	TIINLATALTSVGVGSFLCDWILLT	TIINLATALTSVRVGSFLCDWILLT	1.0	6.0	unscreened	-	4180_12:133198121-133198121 G>A_TIINLATALTSVRVGSFLCDWILLT
19:11472075-11472075 G>A	0.0	4180	BREAST	-	-	-	-	LPPR2	ENST00000591608,p.A167T|NM_001170635,p.A167T|ENST00000251473,p.A192T|NM_022737,p.A192T|uc002mrf.2,p.A167T|uc002mre.2,p.A192T	retained_intron, protein_coding, processed_transcript	uc002mrf.2	nonsynonymous SNV	exon6	c.G499A	p.A167T	GPDRFVTDQGACAGSPSLVAAARRA	GPDRFVTDQGACTGSPSLVAAARRA	6.0	3.0	unscreened	-	4180_19:11472075-11472075 G>A_GPDRFVTDQGACTGSPSLVAAARRA
19:56487540-56487540 T>C	0.0	4180	BREAST	-	-	-	-	NLRP8	ENST00000590542,p.M897T|NM_176811,p.M916T|uc002qmh.3,p.M916T|ENST00000291971,p.M916T|uc010etg.3,p.M897T	protein_coding	uc010etg.3	nonsynonymous SNV	exon8	c.T2690C	p.M897T	RKCDLTFNCCQDMISALCKNKTLKS	RKCDLTFNCCQDTISALCKNKTLKS	1.0	9.0	unscreened	-	4180_19:56487540-56487540 T>C_RKCDLTFNCCQDTISALCKNKTLKS
22:36718556-36718556 T>C	1.0	4180	BREAST	-	-	-	1	MYH9	uc003apg.3,p.E208G|uc003aph.1,p.E72G|ENST00000216181,p.E208G|NM_002473,p.E208G	retained_intron, protein_coding, processed_transcript	uc003aph.1	nonsynonymous SNV	exon4	c.A215G	p.E72G	SSHKSKKDQGELERQLLQANPILEA	SSHKSKKDQGELGRQLLQANPILEA	10.0	10.0	-	-	4180_22:36718556-36718556 T>C_SSHKSKKDQGELGRQLLQANPILEA
1:24496080-24496080 C>T	0.0	4180	BREAST	-	-	-	-	IFNLR1	uc001biv.3,p.R65H|NM_173065,p.R65H|ENST00000327575,p.R65H|ENST00000327535,p.R65H|NM_170743,p.R65H|uc001bir.3,p.R65H|ENST00000374421,p.R65H|ENST00000374418,p.R65H|uc001bit.3,p.R65H|uc001bis.3,p.R65H|NM_173064,p.R65H	protein_coding	uc001biv.3	nonsynonymous SNV	exon3	c.G194A	p.R65H	VTYFVAYQSSPTRRRWREVEECAGT	VTYFVAYQSSPTHRRWREVEECAGT	6.0	4.0	unscreened	-	4180_1:24496080-24496080 C>T_VTYFVAYQSSPTHRRWREVEECAGT
19:464141-464141 G>-	0.0	4180	BREAST	-	-	-	-	ODF3L2	ENST00000382696,p.P155fs|uc002lor.3,p.P191fs|NM_182577,p.P191fs|uc010drp.3,p.P155fs|ENST00000315489,p.P191fs	retained_intron, protein_coding	uc010drp.3	frameshift deletion	exon3	c.465delC	p.P155fs	SSPSYTVVGRTPPARPPQDPAEIPG	SSPSYTVVGRTPPPAPRRILLRYQARASTTARTQTPTASACLPSPCWGGPGPRDPWRRPPALAPTAQSRSP	2.0	2.0	unscreened	-	4180_19:464141-464141 G>-_SSPSYTVVGRTPPPAPRRILLRYQARASTTARTQTPTASACLPSPCWGGPGPRDPWRRPPALAPTAQSRSP
15:85383403-85383403 A>G	0.0	4180	BREAST	-	-	-	-	ALPK3	NM_020778,p.D500G|uc002ble.3,p.D500G|ENST00000258888,p.D500G	retained_intron, protein_coding	uc002ble.3	nonsynonymous SNV	exon5	c.A1499G	p.D500G	EDGEHGLLTYICDAMELGPQRALKE	EDGEHGLLTYICGAMELGPQRALKE	4.0	8.0	unscreened	-	4180_15:85383403-85383403 A>G_EDGEHGLLTYICGAMELGPQRALKE
17:2996130-2996130 C>T	0.0	4180	BREAST	-	-	-	-	OR1D2	ENST00000331459,p.R54H|uc010vrb.2,p.R54H|NM_002548,p.R54H	protein_coding	uc010vrb.2	nonsynonymous SNV	exon1	c.G161A	p.R54H	NVLIILAISSDSRLHTPVYFFLANL	NVLIILAISSDSHLHTPVYFFLANL	1.0	7.0	unscreened	-	4180_17:2996130-2996130 C>T_NVLIILAISSDSHLHTPVYFFLANL
19:17679369-17679369 C>T	0.0	4180	BREAST	-	-	-	-	COLGALT1	uc002nhc.1,p.R226W|NM_024656,p.R226W|ENST00000252599,p.R226W	retained_intron, protein_coding, processed_transcript	uc002nhc.1	nonsynonymous SNV	exon5	c.C676T	p.R226W	TPAYIPIRKRDRRGCFAVPMVHSTF	TPAYIPIRKRDRWGCFAVPMVHSTF	9.0	4.0	unscreened	-	4180_19:17679369-17679369 C>T_TPAYIPIRKRDRWGCFAVPMVHSTF
8:41530300-41530300 C>A	0.0	4180	BREAST	-	-	-	2	ANK1	uc003xoi.3,p.E1556D|ENST00000347528,p.E1556D|ENST00000289734,p.E1556D|NM_020476,p.E1556D|ENST00000396942,p.E1556D|ENST00000265709,p.E1597D|uc003xok.3,p.E1556D|ENST00000379758,p.E1556D|NM_020475,p.E1556D|uc003xoj.3,p.E1556D|uc003xom.3,p.E1597D|NM_000037,p.E1556D|ENST00000352337,p.E1556D|NM_001142446,p.E1597D|ENST00000396945,p.E1556D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xom.3	nonsynonymous SNV	exon39	c.G4791T	p.E1597D	VAVLDAIPLAATEHDTMLEMSDMQV	VAVLDAIPLAATDHDTMLEMSDMQV	3.0	7.0	unscreened	-	4180_8:41530300-41530300 C>A_VAVLDAIPLAATDHDTMLEMSDMQV
1:157773747-157773747 G>-	0.0	4180	BREAST	-	-	-	-	FCRL1	uc001frg.3,p.P69fs|ENST00000491942,p.P69fs|NM_001159398,p.P69fs|uc001fri.3,p.P69fs|uc001frh.3,p.P69fs|NM_052938,p.P69fs|ENST00000358292,p.P69fs|ENST00000368176,p.P69fs|NM_001159397,p.P69fs	protein_coding, processed_transcript	uc001fri.3	frameshift deletion	exon3	c.207delC	p.P69fs	DTRALGPGWSSSPKLQIAAMWKEDT	DTRALGPGWSSSPSSRSLPCGKKTQGHTGARHRQWRPKS	3.0	1.0	unscreened	-	4180_1:157773747-157773747 G>-_DTRALGPGWSSSPSSRSLPCGKKTQGHTGARHRQWRPKS
3:141497245-141497245 C>T	0.0	4180	BREAST	-	-	-	-	GRK7	ENST00000264952,p.P40L|NM_139209,p.P40L|uc011bnd.2,p.P40L	protein_coding	uc011bnd.2	nonsynonymous SNV	exon1	c.C119T	p.P40L	KELQRRRRSLALPGLQGCAELRQKL	KELQRRRRSLALLGLQGCAELRQKL	1.0	9.0	unscreened	-	4180_3:141497245-141497245 C>T_KELQRRRRSLALLGLQGCAELRQKL
8:110509226-110509226 G>A	0.0	4180	BREAST	-	-	-	-	PKHD1L1	ENST00000526472,p.G397D|NM_177531,p.G3469D|uc003yne.3,p.G3469D|ENST00000378402,p.G3469D	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon64	c.G10406A	p.G3469D	HGGLYGIYMNQDGLPGCSLIQGFTI	HGGLYGIYMNQDDLPGCSLIQGFTI	4.0	1.0	unscreened	-	4180_8:110509226-110509226 G>A_HGGLYGIYMNQDDLPGCSLIQGFTI
3:97806749-97806749 G>A	0.0	4180	BREAST	-	-	ID=COSM283590;OCCURENCE=1(large_intestine),1(endometrium)	-	OR5AC2	ENST00000358642,p.A245T|uc011bgs.2,p.A245T|NM_054106,p.A245T	protein_coding	uc011bgs.2	nonsynonymous SNV	exon1	c.G733A	p.A245T	EKGRSKAFSTCGAHLLSVSLYYGTL	EKGRSKAFSTCGTHLLSVSLYYGTL	1.0	3.0	unscreened	-	4180_3:97806749-97806749 G>A_EKGRSKAFSTCGTHLLSVSLYYGTL
11:17757673-17757673 G>A	0.0	4180	BREAST	-	-	-	-	KCNC1	uc009yhc.1,p.A42T|ENST00000265969,p.A42T|ENST00000379472,p.A42T|NM_004976,p.A42T|uc001mnk.4,p.A42T|NM_001112741,p.A42T	retained_intron, protein_coding, processed_transcript	uc009yhc.1	nonsynonymous SNV	exon1	c.G124A	p.A42T	PGTRLAWLAEPDAHSHFDYDPRADE	PGTRLAWLAEPDTHSHFDYDPRADE	1.0	2.0	unscreened	-	4180_11:17757673-17757673 G>A_PGTRLAWLAEPDTHSHFDYDPRADE
5:142601967-142601967 G>A	0.0	4180	BREAST	-	-	-	1	ARHGAP26	NM_001135608,p.G746R|uc003lmw.3,p.G709R|ENST00000378004,p.G746R|NM_015071,p.G801R|uc011dbj.2,p.G801R|uc003lmt.3,p.G746R|ENST00000274498,p.G801R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dbj.2	nonsynonymous SNV	exon23	c.G2401A	p.G801R	SQEPGWLEGTLNGKTGLIPENYVEF	SQEPGWLEGTLNRKTGLIPENYVEF	7.0	9.0	unscreened	-	4180_5:142601967-142601967 G>A_SQEPGWLEGTLNRKTGLIPENYVEF
1:200378734-200378734 C>T	1.0	4180	BREAST	-	-	ID=COSM1233816;OCCURENCE=1(large_intestine)	-	ZNF281	ENST00000294740,p.G34S|NM_001281294,p.G34S|uc001gve.3,p.G34S|ENST00000367353,p.G34S|uc001gvg.1,p.G34S|uc021phb.1,p.G34S|ENST00000367352,p.G34S|NM_001281293,p.G34S|uc001gvf.1,p.G34S|NM_012482,p.G34S	protein_coding	uc021phb.1	nonsynonymous SNV	exon1	c.G100A	p.G34S	SGGGGSGGGGGGGSSGRRAEMEPTF	SGGGGSGGGGGGSSSGRRAEMEPTF	8.0	4.0	unscreened	-	4180_1:200378734-200378734 C>T_SGGGGSGGGGGGSSSGRRAEMEPTF
17:46629737-46629737 G>-	0.0	4180	BREAST	-	-	ID=COSM1384006;OCCURENCE=3(large_intestine)	-	HOXB3	ENST00000311626,p.Q34fs|uc010dbf.3,p.Q34fs|ENST00000498678,p.Q34fs|uc010dbg.3,p.Q34fs|NM_002146,p.Q34fs|ENST00000470495,p.Q34fs|ENST00000476342,p.Q34fs|uc002inn.3,p.Q34fs|uc002ino.3,p.Q34fs	retained_intron, protein_coding, processed_transcript	uc010dbg.3	frameshift deletion	exon2	c.100delC	p.Q34fs	PGSNGFGFDVPPQPPFQAATHLEGD	PGSNGFGFDVPPNPHFRPPRTWRATTSAQLARCSPWATLPHMPRARSSTAAA	3.0	5.0	unscreened	-	4180_17:46629737-46629737 G>-_PGSNGFGFDVPPNPHFRPPRTWRATTSAQLARCSPWATLPHMPRARSSTAAA
18:30926334-30926334 G>A	0.0	4180	BREAST	-	-	-	-	CCDC178	uc002kxo.2,p.L167F|uc002kxn.2,p.L167F|ENST00000402325,p.L167F|NM_198995,p.L167F|ENST00000406524,p.L167F|ENST00000403303,p.L167F|ENST00000300227,p.L167F|ENST00000583930,p.L167F|ENST00000579947,p.L167F|ENST00000399177,p.L167F|uc002kxp.3,p.L167F|ENST00000383096,p.L167F|uc010xbr.1,p.L167F|NM_001105528,p.L167F	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc010xbr.1	nonsynonymous SNV	exon8	c.C499T	p.L167F	KCPELKQEMETLLSEAIRLIKSLET	KCPELKQEMETLFSEAIRLIKSLET	1.0	9.0	unscreened	-	4180_18:30926334-30926334 G>A_KCPELKQEMETLFSEAIRLIKSLET
1:87045657-87045657 A>G	0.0	4180	BREAST	-	-	-	-	CLCA4	uc009wcu.3,p.I617V|uc009wct.3,p.I560V|ENST00000370563,p.I797V|NM_012128,p.I797V|uc009wcs.3,p.I797V	protein_coding, processed_transcript	uc009wcu.3	nonsynonymous SNV	exon12	c.A1849G	p.I617V	KVQRYIIRISASILDLRDSFDDALQ	KVQRYIIRISASVLDLRDSFDDALQ	1.0	9.0	unscreened	-	4180_1:87045657-87045657 A>G_KVQRYIIRISASVLDLRDSFDDALQ
7:150671849-150671849 A>G	0.0	4180	BREAST	-	-	-	-	KCNH2	NM_172056,p.L86P|uc003wic.3,p.L86P|ENST00000430723,p.L86P|uc003wie.3,p.L86P|ENST00000262186,p.L86P|NM_000238,p.L86P	retained_intron, protein_coding	uc003wie.3	nonsynonymous SNV	exon2	c.T257C	p.L86P	TQRRAAAQIAQALLGAEERKVEIAF	TQRRAAAQIAQAPLGAEERKVEIAF	6.0	2.0	unscreened	-	4180_7:150671849-150671849 A>G_TQRRAAAQIAQAPLGAEERKVEIAF
4:110756540-110756540 ->T	0.0	4180	BREAST	-	-	-	-	RRH	ENST00000317735,p.I106fs|NM_006583,p.I106fs|uc003hzv.3,p.I106fs	protein_coding	uc003hzv.3	frameshift insertion	exon3	c.317dupT	p.I106fs	GYAGCQVYAGLNIFFGMASIGLLTV	GYAGCQVYAGLNIFFWNGKHWITHGRGCGPIPDHLPS	1.0	2.0	unscreened	-	4180_4:110756540-110756540 ->T_GYAGCQVYAGLNIFFWNGKHWITHGRGCGPIPDHLPS
1:169930373-169930373 A>G	0.0	4180	BREAST	-	-	-	-	KIFAP3	NM_001204516,p.Y619H|ENST00000367765,p.Y623H|uc010ply.2,p.Y585H|ENST00000538366,p.Y585H|ENST00000540905,p.Y365H|ENST00000361580,p.Y663H|NM_001204514,p.Y585H|uc021pep.1,p.Y623H|uc010plx.2,p.Y365H|ENST00000367767,p.Y619H|uc001ggw.2,p.Y619H|uc001ggv.3,p.Y663H|NM_014970,p.Y663H|NM_001204517,p.Y623H	protein_coding, processed_transcript	uc021pep.1	nonsynonymous SNV	exon18	c.T1867C	p.Y623H	KVCDNTLDIIAEYDEEWAKKIQSEK	KVCDNTLDIIAEHDEEWAKKIQSEK	8.0	3.0	unscreened	-	4180_1:169930373-169930373 A>G_KVCDNTLDIIAEHDEEWAKKIQSEK
11:1082295-1082295 G>A	0.0	4180	BREAST	-	-	-	-	MUC2	ENST00000441003,p.A584T|ENST00000359061,p.A584T|NM_002457,p.A584T|uc001lsx.1,p.A584T	protein_coding	uc001lsx.1	nonsynonymous SNV	exon14	c.G1750A	p.A584T	DPCSLNIESANYAEHWCSLLKKTET	DPCSLNIESANYTEHWCSLLKKTET	1.0	8.0	unscreened	-	4180_11:1082295-1082295 G>A_DPCSLNIESANYTEHWCSLLKKTET
1:52442746-52442746 G>C	0.0	4180	BREAST	-	-	-	-	RAB3B	NM_002867,p.S15C|uc001cth.3,p.S15C|ENST00000371655,p.S15C	protein_coding	uc001cth.3	nonsynonymous SNV	exon2	c.C44G	p.S15C	SVTDGKTGVKDASDQNFDYMFKLLI	SVTDGKTGVKDACDQNFDYMFKLLI	2.0	7.0	unscreened	-	4180_1:52442746-52442746 G>C_SVTDGKTGVKDACDQNFDYMFKLLI
19:33167572-33167572 C>T	0.0	4180	BREAST	-	-	-	-	RGS9BP	uc002ntp.1,p.R135W|NM_207391,p.R135W|ENST00000334176,p.R135W	protein_coding	uc002ntp.1	nonsynonymous SNV	exon1	c.C403T	p.R135W	GVAARALSTRSLRLEAEGDFDVADL	GVAARALSTRSLWLEAEGDFDVADL	2.0	1.0	unscreened	-	4180_19:33167572-33167572 C>T_GVAARALSTRSLWLEAEGDFDVADL
19:47933477-47933477 G>A	0.0	4180	BREAST	-	-	-	-	SLC8A2	uc010ele.3,p.A905V	retained_intron, protein_coding, processed_transcript	uc010ele.3	nonsynonymous SNV	exon9	c.C2714T	p.A905V	LRGHCRAAVPAPAAHRRRAGRPART	LRGHCRAAVPAPVAHRRRAGRPART	1.0	1.0	unscreened	-	4180_19:47933477-47933477 G>A_LRGHCRAAVPAPVAHRRRAGRPART
19:2933835-2933835 A>T	0.0	4180	BREAST	-	-	-	-	ZNF77	ENST00000314531,p.H430Q|NM_021217,p.H430Q|uc002lws.4,p.H430Q	protein_coding, processed_transcript	uc002lws.4	nonsynonymous SNV	exon4	c.T1290A	p.H430Q	SFSSSLRIHVRTHTGEKPFECKHCG	SFSSSLRIHVRTQTGEKPFECKHCG	5.0	6.0	unscreened	-	4180_19:2933835-2933835 A>T_SFSSSLRIHVRTQTGEKPFECKHCG
15:42445510-42445510 G>A	0.0	4180	BREAST	-	-	-	-	PLA2G4F	ENST00000561627,p.T111M	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000561627	nonsynonymous SNV	exon5	c.C332T	p.T111M	RRARCLHLKSSPTGFWWLTPV	RRARCLHLKSSPMGFWWLTPV	2.0	3.0	unscreened	-	4180_15:42445510-42445510 G>A_RRARCLHLKSSPMGFWWLTPV
16:19049316-19049316 T>C	1.0	4180	BREAST	-	-	-	-	TMC7	uc010vao.1,p.M370T	retained_intron, protein_coding, processed_transcript	uc010vao.1	nonsynonymous SNV	exon8	c.T1109C	p.M370T	VFELYCSGCFRGMLLCNIRSNCLLA	VFELYCSGCFRGTLLCNIRSNCLLA	5.0	9.0	unscreened	-	4180_16:19049316-19049316 T>C_VFELYCSGCFRGTLLCNIRSNCLLA
1:25747250-25747250 G>A	0.0	4180	BREAST	-	-	-	-	RHCE	uc001bki.3,p.R10W|uc001bkg.3,p.R10W|NM_138617,p.R10W|NM_138618,p.R10W|uc001bkf.3,p.R10W|NM_020485,p.R10W|NM_138616,p.R10W|uc001bkh.3,p.R10W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001bki.3	nonsynonymous SNV	exon1	c.C28T	p.R10W	MSSKYPRSVRRCLPLWALTLEA	MSSKYPRSVWRCLPLWALTLEA	4.0	9.0	unscreened	-	4180_1:25747250-25747250 G>A_MSSKYPRSVWRCLPLWALTLEA
1:120165710-120165710 C>T	0.0	4180	BREAST	-	-	-	-	ZNF697	NM_001080470,p.S419N|ENST00000421812,p.S419N|uc001ehy.1,p.S419N	protein_coding	uc001ehy.1	nonsynonymous SNV	exon3	c.G1256A	p.S419N	KPYMCSECGETFSVSSHLFTHKRTH	KPYMCSECGETFNVSSHLFTHKRTH	4.0	7.0	unscreened	-	4180_1:120165710-120165710 C>T_KPYMCSECGETFNVSSHLFTHKRTH
14:96730965-96730965 G>A	0.0	4180	BREAST	-	-	-	-	BDKRB1	ENST00000553356,p.G250S	protein_coding, processed_transcript	ENST00000553356	nonsynonymous SNV	exon4	c.G748A	p.G250S	TSSLNPVIYVFVGRLFRTKPALSRW	TSSLNPVIYVFVSRLFRTKPALSRW	3.0	6.0	unscreened	-	4180_14:96730965-96730965 G>A_TSSLNPVIYVFVSRLFRTKPALSRW
11:8707314-8707314 G>C	0.0	4180	BREAST	-	-	ID=COSM932785;OCCURENCE=1(endometrium)	-	RPL27A	ENST00000530913,p.K79N|uc001mgs.4,p.K136N|ENST00000524496,p.K79N|ENST00000526562,p.K79N|ENST00000314138,p.K136N|ENST00000530022,p.K79N|ENST00000532359,p.K101N|NM_000990,p.K136N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001mgs.4	nonsynonymous SNV	exon5	c.G408C	p.K136N	VKAKFFSRRAEEKIKSVGGACVLVA	VKAKFFSRRAEENIKSVGGACVLVA	10.0	1.0	unscreened	-	4180_11:8707314-8707314 G>C_VKAKFFSRRAEENIKSVGGACVLVA
10:75560463-75560463 ->C	0.0	4180	BREAST	-	-	ID=COSM1349061,COSM1349060,COSM1349062;OCCURENCE=1(large_intestine),1(breast)	-	ZSWIM8	NM_001242487,p.S1693fs|NM_001242488,p.S1685fs|ENST00000604524,p.S1511fs|ENST00000604729,p.S1690fs|ENST00000603114,p.S1652fs|uc009xrn.2,p.S104fs|NM_015037,p.S1698fs|uc001jvi.3,p.S1120fs|uc009xrl.3,p.S1693fs|ENST00000605216,p.S1693fs|uc010qkr.2,p.S1108fs|uc001jve.3,p.S1698fs|uc001jvf.3,p.S1511fs|uc001jvj.3,p.S1685fs|ENST00000398706,p.S1698fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qkr.2	frameshift insertion	exon15	c.3323dupC	p.S1108fs	RAHNDHPNNFSRSPPYTDDVKWLLG	RAHNDHPNNFSRSPPLH	8.0	3.0	unscreened	-	4180_10:75560463-75560463 ->C_RAHNDHPNNFSRSPPLH
2:179576892-179576892 G>A	0.0	4180	BREAST	-	-	-	-	TTN	ENST00000591111,p.A8905V|NM_001256850,p.A8905V|ENST00000589042,p.A9222V|ENST00000342992,p.A7978V|uc002umz.1,p.A4639V|uc031rqd.1,p.A8905V|uc021vsy.2,p.A7978V|NM_001267550,p.A9222V|uc031rqc.1,p.A9222V|NM_133378,p.A7978V	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon94	c.C26714T	p.A8905V	QLEPVKVSVGDSASLQCQLAGTPEI	QLEPVKVSVGDSVSLQCQLAGTPEI	2.0	8.0	unscreened	-	4180_2:179576892-179576892 G>A_QLEPVKVSVGDSVSLQCQLAGTPEI
2:63661053-63661053 T>C	0.0	4180	BREAST	-	-	-	-	WDPCP	uc002scg.3,p.I25M|uc010fcr.1,p.I107M|ENST00000409199,p.I25M|ENST00000398544,p.I58M|uc002scf.3,p.I58M|uc002sci.2,p.I193M|NM_015910,p.I217M|NM_001042692,p.I58M|ENST00000272321,p.I217M|uc002sch.3,p.I217M|ENST00000409120,p.I25M|ENST00000409562,p.I217M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fcr.1	nonsynonymous SNV	exon4	c.A321G	p.I107M	LSALDYKIFYYEIPGPINKTTERHL	LSALDYKIFYYEMPGPINKTTERHL	6.0	6.0	unscreened	-	4180_2:63661053-63661053 T>C_LSALDYKIFYYEMPGPINKTTERHL
7:82583493-82583493 G>A	0.0	4180	BREAST	-	-	-	-	PCLO	NM_014510,p.A2259V|uc003uhx.2,p.A2259V|uc003uhv.2,p.A2259V|ENST00000333891,p.A2259V|ENST00000423517,p.A2259V|NM_033026,p.A2259V	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon5	c.C6776T	p.A2259V	LDRTAPPDGRASADHIVISLSDMAS	LDRTAPPDGRASVDHIVISLSDMAS	4.0	2.0	unscreened	-	4180_7:82583493-82583493 G>A_LDRTAPPDGRASVDHIVISLSDMAS
8:121256232-121256232 G>A	0.0	4180	BREAST	-	-	ID=COSM1201790;OCCURENCE=1(large_intestine)	-	COL14A1	ENST00000434620,p.A635T|uc003yoy.3,p.A500T|ENST00000297848,p.A822T|NM_021110,p.A822T|ENST00000247781,p.A727T|uc003yox.4,p.A822T|ENST00000309791,p.A822T	protein_coding, processed_transcript, nonsense_mediated_decay	uc003yoy.3	nonsynonymous SNV	exon15	c.G1498A	p.A500T	PIYTDGEGVSVSAPGKTLPSSGPQN	PIYTDGEGVSVSTPGKTLPSSGPQN	5.0	4.0	unscreened	-	4180_8:121256232-121256232 G>A_PIYTDGEGVSVSTPGKTLPSSGPQN
5:140482389-140482389 C>T	0.0	4180	BREAST	-	-	-	-	PCDHB3	uc003lio.3,p.A719V|ENST00000231130,p.A719V|NM_018937,p.A719V	protein_coding	uc003lio.3	nonsynonymous SNV	exon1	c.C2156T	p.A719V	LFVAVRLCRRSRAASVGRCSVPEGP	LFVAVRLCRRSRVASVGRCSVPEGP	5.0	9.0	unscreened	-	4180_5:140482389-140482389 C>T_LFVAVRLCRRSRVASVGRCSVPEGP
18:11885764-11885764 C>T	1.0	4180	BREAST	-	-	-	-	MPPE1	ENST00000317251,p.A210T|ENST00000399978,p.A308T|uc002kqm.3,p.A244T|uc002kqn.3,p.A244T|ENST00000496196,p.A307T|uc002kqf.3,p.A307T|ENST00000588072,p.A307T|ENST00000309976,p.A244T|ENST00000587724,p.A128T|NM_001242904,p.A244T|ENST00000344987,p.A285T|ENST00000317235,p.A244T|NM_023075,p.A307T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay	uc002kqn.3	nonsynonymous SNV	exon7	c.G730A	p.A244T	QPRLVLSGHTHSACEVHHGGRVPEL	QPRLVLSGHTHSTCEVHHGGRVPEL	8.0	7.0	unscreened	-	4180_18:11885764-11885764 C>T_QPRLVLSGHTHSTCEVHHGGRVPEL
19:49248914-49248914 G>A	0.0	4180	BREAST	-	-	-	-	IZUMO1	NM_182575,p.S68L|ENST00000595937,p.S68L|ENST00000332955,p.S68L|uc002pkj.3,p.S68L	retained_intron, protein_coding, nonsense_mediated_decay	uc002pkj.3	nonsynonymous SNV	exon2	c.C203T	p.S68L	RVENAVKDFQELSLNEDAYMGVVDE	RVENAVKDFQELLLNEDAYMGVVDE	1.0	1.0	unscreened	-	4180_19:49248914-49248914 G>A_RVENAVKDFQELLLNEDAYMGVVDE
2:1271147-1271147 C>A	0.0	4180	BREAST	-	-	-	-	SNTG2	ENST00000407292,p.T236K|ENST00000308624,p.T363K|uc010ewi.3,p.T236K|uc002qwq.3,p.T363K|NM_018968,p.T363K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ewi.3	nonsynonymous SNV	exon8	c.C707A	p.T236K	CEVLFKVHKFWLTEDCWLQANLYLG	CEVLFKVHKFWLKEDCWLQANLYLG	1.0	6.0	unscreened	-	4180_2:1271147-1271147 C>A_CEVLFKVHKFWLKEDCWLQANLYLG
1:45887400-45887400 A>G	0.0	4180	BREAST	-	-	-	-	TESK2	uc009vxr.1,p.L114P|ENST00000372086,p.L114P|ENST00000538496,p.L31P|ENST00000341771,p.L114P|uc001cns.1,p.L114P|uc010olo.1,p.L31P|NM_007170,p.L114P|ENST00000372084,p.L114P	protein_coding, processed_transcript	uc010olo.1	nonsynonymous SNV	exon2	c.T92C	p.L31P	VQLMNRLSHPNILRFMGVCVHQGQL	VQLMNRLSHPNIPRFMGVCVHQGQL	4.0	6.0	unscreened	-	4180_1:45887400-45887400 A>G_VQLMNRLSHPNIPRFMGVCVHQGQL
1:157557212-157557212 T>C	0.0	4180	BREAST	-	-	-	1	FCRL4	NM_031282,p.E234G|ENST00000271532,p.E234G|uc001fqw.3,p.E234G	protein_coding, processed_transcript	uc001fqw.3	nonsynonymous SNV	exon5	c.A701G	p.E234G	DTPLHFNFFRDGEVILSDWSTYPEL	DTPLHFNFFRDGGVILSDWSTYPEL	2.0	6.0	unscreened	-	4180_1:157557212-157557212 T>C_DTPLHFNFFRDGGVILSDWSTYPEL
14:74206605-74206605 ->G	0.0	4180	BREAST	-	-	ID=COSM1371007;OCCURENCE=1(large_intestine)	-	ELMSAN1	ENST00000435371,p.Q36fs|NM_194278,p.Q36fs|ENST00000394071,p.Q36fs|uc010tud.1,p.Q36fs|uc001xou.3,p.Q36fs|uc001xot.3,p.Q36fs|ENST00000423556,p.Q36fs|ENST00000286523,p.Q36fs|NM_001043318,p.Q36fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tud.1	frameshift insertion	exon1	c.106dupC	p.Q36fs	APKEQPPPLQPPQQSIRVKEEQYLG	APKEQPPPLQPPPAVHQSEGGAVPRARGSRRGSLHLSACGTAPS	7.0	2.0	unscreened	-	4180_14:74206605-74206605 ->G_APKEQPPPLQPPPAVHQSEGGAVPRARGSRRGSLHLSACGTAPS
6:131958594-131958594 G>A	0.0	4180	BREAST	-	-	ID=COSM274970;OCCURENCE=1(large_intestine)	-	ENPP3	ENST00000427707,p.A24T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000427707	nonsynonymous SNV	exon2	c.G70A	p.A24T	PVKKNTLKKYKIACIGLSPLGSHLT	PVKKNTLKKYKITCIGLSPLGSHLT	2.0	10.0	unscreened	-	4180_6:131958594-131958594 G>A_PVKKNTLKKYKITCIGLSPLGSHLT
20:33345721-33345723 TGC>-	1.0	4180	BREAST	-	-	-	-	NCOA6	uc010gew.1,p.233_234del|uc002xaw.3,p.276_277del|uc021wcd.1,p.276_277del|NM_001242539,p.276_277del|uc021wcf.1,p.276_277del|uc021wce.1,p.276_277del|ENST00000374796,p.276_277del|ENST00000359003,p.276_277del|NM_014071,p.276_277del|uc002xav.3,p.276_277del	retained_intron, protein_coding, processed_transcript	uc021wcf.1	nonframeshift deletion	exon5	c.828_830del	p.276_277del	QQQQQQQQQQQQQQQQQQQQQQLQA	QQQQQQQQQQQQQQQQQQQQQLQAR	7.0	8.0	unscreened	-	4180_20:33345721-33345723 TGC>-_QQQQQQQQQQQQQQQQQQQQQLQAR
9:114290066-114290066 A>G	0.0	4180	BREAST	-	-	-	-	ZNF483	ENST00000309235,p.T131A|uc004bfg.2,p.T131A|ENST00000355824,p.T131A|ENST00000358151,p.T131A|uc011lwq.2,p.T131A|NM_133464,p.T131A|NM_001007169,p.T131A|uc004bff.2,p.T131A	protein_coding	uc011lwq.2	nonsynonymous SNV	exon2	c.A391G	p.T131A	SSEEVVTLIEDLTQMLEEKDPVSQD	SSEEVVTLIEDLAQMLEEKDPVSQD	4.0	1.0	unscreened	-	4180_9:114290066-114290066 A>G_SSEEVVTLIEDLAQMLEEKDPVSQD
6:102503432-102503432 A>-	0.0	4180	BREAST	-	-	ID=COSM311627,COSM311628;OCCURENCE=1(lung),9(large_intestine),1(pancreas)	-	GRIK2	ENST00000413795,p.K847fs|ENST00000318991,p.K847fs|NM_175768,p.K847fs|uc021zdk.1,p.K660fs|uc003pqo.4,p.K847fs	retained_intron, protein_coding	uc021zdk.1	frameshift deletion	exon12	c.1978delA	p.K660fs	VFVAVGEFLYKSKKNAQLEKESSIW	VFVAVGEFLYKSKKTLNWKRNLLFG	1.0	3.0	unscreened	-	4180_6:102503432-102503432 A>-_VFVAVGEFLYKSKKTLNWKRNLLFG
17:7906504-7906504 C>-	0.0	4180	BREAST	-	-	-	-	GUCY2D	ENST00000254854,p.P47fs|NM_000180,p.P47fs|uc002gjt.2,p.P47fs	retained_intron, protein_coding	uc002gjt.2	frameshift deletion	exon2	c.139delC	p.P47fs	RLPLLLLLLLLQPPALSAVFTVGVL	RLPLLLLLLLLQPPPSPPCSRWGSWAPGLATPSSLGLARTWPPAWPPPA	1.0	8.0	unscreened	-	4180_17:7906504-7906504 C>-_RLPLLLLLLLLQPPPSPPCSRWGSWAPGLATPSSLGLARTWPPAWPPPA
4:53731802-53731802 G>A	0.0	4180	BREAST	0.01	-	-	-	RASL11B	NM_023940,p.A193T|ENST00000248706,p.A193T|uc003gzt.3,p.A193T	retained_intron, protein_coding, processed_transcript	uc003gzt.3	nonsynonymous SNV	exon4	c.G577A	p.A193T	VSVSENYNDVYSAFHVLCKEVSHKQ	VSVSENYNDVYSTFHVLCKEVSHKQ	2.0	7.0	unscreened	-	4180_4:53731802-53731802 G>A_VSVSENYNDVYSTFHVLCKEVSHKQ
22:18835289-18835289 G>A	0.0	4180	BREAST	-	-	-	-	GGT3P,DGCR6	uc002zoc.3,p.S282N|ENST00000342005,p.S282N	protein_coding	uc002zoc.3	nonsynonymous SNV	exon1	c.G845A	p.S282N	GTSGLPAISKAPSMDVQQETHKSQD	GTSGLPAISKAPNMDVQQETHKSQD	2.0	9.0	unscreened	-	4180_22:18835289-18835289 G>A_GTSGLPAISKAPNMDVQQETHKSQD
1:152324407-152324407 C>G	0.0	4180	BREAST	-	-	ID=COSM3782361;OCCURENCE=1(prostate)	-	FLG2	ENST00000388718,p.G1952A|NM_001014342,p.G1952A|uc001ezw.4,p.G1952A	protein_coding	uc001ezw.4	nonsynonymous SNV	exon3	c.G5855C	p.G1952A	TIQTGSRTTGRRGSGHSEYSDSEGP	TIQTGSRTTGRRASGHSEYSDSEGP	1.0	5.0	unscreened	-	4180_1:152324407-152324407 C>G_TIQTGSRTTGRRASGHSEYSDSEGP
10:23250994-23250994 T>C	0.0	4180	BREAST	-	-	-	-	ARMC3	uc001irm.4,p.I240T|ENST00000298032,p.I240T|uc010qcv.2,p.I240T|NM_001282745,p.I240T|ENST00000409983,p.I240T|NM_173081,p.I240T|ENST00000409049,p.I240T|NM_001282746,p.I240T	protein_coding, processed_transcript	uc010qcv.2	nonsynonymous SNV	exon7	c.T719C	p.I240T	LRDNQGLDHLIKILETKELNDLHIE	LRDNQGLDHLIKTLETKELNDLHIE	5.0	8.0	unscreened	-	4180_10:23250994-23250994 T>C_LRDNQGLDHLIKTLETKELNDLHIE
8:141856765-141856765 A>G	1.0	4180	BREAST	-	-	-	-	PTK2	ENST00000524357,p.Y70H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000524357	nonsynonymous SNV	exon3	c.T208C	p.Y70H	HGDATDVRVKSDYMLEIADQVDQEI	HGDATDVRVKSDHMLEIADQVDQEI	10.0	6.0	unscreened	-	4180_8:141856765-141856765 A>G_HGDATDVRVKSDHMLEIADQVDQEI
15:43028767-43028767 A>G	1.0	4180	BREAST	-	-	-	-	CDAN1	NM_138477,p.F101S|ENST00000356231,p.F101S|uc001zql.3,p.F101S	retained_intron, protein_coding, nonsense_mediated_decay	uc001zql.3	nonsynonymous SNV	exon2	c.T302C	p.F101S	PPRGSRGARSQLFPPTEAQSTAAEA	PPRGSRGARSQLSPPTEAQSTAAEA	6.0	10.0	unscreened	-	4180_15:43028767-43028767 A>G_PPRGSRGARSQLSPPTEAQSTAAEA
7:100488856-100488856 G>A	0.0	4180	BREAST	-	-	-	-	ACHE	NM_000665,p.R553W|uc003uxg.3,p.R553W|ENST00000302913,p.R553W|NM_001282449,p.R465W|uc003uxf.3,p.R553W|uc003uxi.3,p.R553W|NM_015831,p.R553W|ENST00000412389,p.R553W|uc003uxe.3,p.R553W|uc003uxh.3,p.R465W|ENST00000428317,p.R553W|ENST00000419336,p.R465W|ENST00000411582,p.R553W|ENST00000241069,p.R553W|uc003uxd.3,p.R553W	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxi.3	nonsynonymous SNV	exon4	c.C1657T	p.R553W	YVSLDLRPLEVRRGLRAQACAFWNR	YVSLDLRPLEVRWGLRAQACAFWNR	4.0	2.0	unscreened	-	4180_7:100488856-100488856 G>A_YVSLDLRPLEVRWGLRAQACAFWNR
1:20659286-20659286 G>A	0.0	4180	BREAST	-	-	-	-	VWA5B1	uc009vps.2,p.A534T|ENST00000289815,p.A534T|ENST00000289825,p.A251T|ENST00000375083,p.A534T|NM_001039500,p.A534T|uc010odc.1,p.A429T|ENST00000375079,p.A534T|uc001bdd.2,p.A241T	protein_coding, processed_transcript, nonsense_mediated_decay	uc010odc.1	nonsynonymous SNV	exon12	c.G1285A	p.A429T	QPKMVKSLKKAMAPVLSDVTVEWIF	QPKMVKSLKKAMTPVLSDVTVEWIF	1.0	3.0	unscreened	-	4180_1:20659286-20659286 G>A_QPKMVKSLKKAMTPVLSDVTVEWIF
X:12940251-12940251 A>C	0.0	4180	BREAST	-	-	-	-	TLR8	uc004cvd.3,p.N1049T|ENST00000311912,p.N1049T|uc004cve.3,p.N1031T|ENST00000218032,p.N1031T|NM_138636,p.N1031T|NM_016610,p.N1049T	protein_coding	uc004cve.3	nonsynonymous SNV	exon2	c.A3092C	p.N1031T	RNVVLTENDSRYNNMYVDSIKQY	RNVVLTENDSRYTNMYVDSIKQY	5.0	5.0	unscreened	-	4180_X:12940251-12940251 A>C_RNVVLTENDSRYTNMYVDSIKQY
6:32165176-32165176 C>T	0.0	4180	BREAST	-	-	-	-	NOTCH4	NM_004557,p.R1651H|ENST00000375023,p.R1651H|uc011dpt.2,p.R60H|uc003oba.3,p.R311H|uc003obb.3,p.R1651H|uc011dpw.1,p.R60H|ENST00000443903,p.R60H	retained_intron, protein_coding, processed_transcript	uc011dpw.1	nonsynonymous SNV	exon1	c.G179A	p.R60H	HLAARFSRPTAARRLLEAGANPNQP	HLAARFSRPTAAHRLLEAGANPNQP	5.0	6.0	unscreened	-	4180_6:32165176-32165176 C>T_HLAARFSRPTAAHRLLEAGANPNQP
22:30927950-30927950 A>-	0.0	4180	BREAST	-	-	-	-	SEC14L6	ENST00000402034,p.F153fs|uc021wnu.1,p.F153fs|NM_001193336,p.F153fs	protein_coding	uc021wnu.1	frameshift deletion	exon6	c.459delT	p.F153fs	KLGKRVEKIIAIFGLEGLGLRDLWK	KLGKRVEKIIAILVSKGWA	2.0	6.0	unscreened	-	4180_22:30927950-30927950 A>-_KLGKRVEKIIAILVSKGWA
19:40541052-40541052 G>C	0.0	4180	BREAST	-	-	-	-	ZNF780B	uc002omv.3,p.L424V|ENST00000221355,p.L424V|uc002omu.3,p.L572V|NM_001005851,p.L572V|ENST00000434248,p.L572V	retained_intron, protein_coding, non_stop_decay	uc002omv.3	nonsynonymous SNV	exon6	c.C1270G	p.L424V	KECGKFFRRGSNLNQHRSIHTGKKP	KECGKFFRRGSNVNQHRSIHTGKKP	6.0	10.0	unscreened	-	4180_19:40541052-40541052 G>C_KECGKFFRRGSNVNQHRSIHTGKKP
19:38591863-38591863 A>G	0.0	4180	BREAST	-	-	-	-	SIPA1L3	NM_015073,p.K676E|ENST00000222345,p.K676E|uc002ohk.3,p.K676E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ohk.3	nonsynonymous SNV	exon6	c.A2026G	p.K676E	KGFTKYAAQLDVKTDSTGTHSLYTM	KGFTKYAAQLDVETDSTGTHSLYTM	8.0	5.0	unscreened	-	4180_19:38591863-38591863 A>G_KGFTKYAAQLDVETDSTGTHSLYTM
22:39883736-39883736 G>-	0.0	4180	BREAST	-	-	ID=COSM1239431;OCCURENCE=3(large_intestine),1(oesophagus)	-	MGAT3	ENST00000341184,p.P128fs|ENST00000429402,p.P128fs|NM_001098270,p.P128fs|NM_002409,p.P128fs|uc010gxy.3,p.P128fs|uc003axv.4,p.P128fs	protein_coding	uc010gxy.3	frameshift deletion	exon1	c.384delG	p.P128fs	VCFKPGTKMLERPPPGRPEEKPEGA	VCFKPGTKMLERPPRDGRRRSLRGPTAPRPGGHPGTS	5.0	6.0	unscreened	-	4180_22:39883736-39883736 G>-_VCFKPGTKMLERPPRDGRRRSLRGPTAPRPGGHPGTS
9:78790139-78790158 AATGGAATGGAATGAAATGG>-	0.0	4180	BREAST	-	-	-	-	PCSK5	uc004ajy.2,p.K665fs|ENST00000376767,p.K665fs	protein_coding	uc004ajy.2	frameshift deletion	exon14	c.1994_2013del	p.K665fs	TTWENRMEWNGMKWNGMKWNGMEWN	TTWENRMEWNGMKWNGMEWNGMESNRIESNRI	4.0	8.0	unscreened	-	4180_9:78790139-78790158 AATGGAATGGAATGAAATGG>-_TTWENRMEWNGMKWNGMEWNGMESNRIESNRI
17:1174405-1174405 C>T	0.0	4180	BREAST	-	-	-	-	BHLHA9	ENST00000391429,p.A183V|uc021tnd.1,p.A183V|NM_001164405,p.A183V	protein_coding	uc021tnd.1	nonsynonymous SNV	exon1	c.C548T	p.A183V	PSAPRCASCPPHAPLARPSAVAEGP	PSAPRCASCPPHVPLARPSAVAEGP	1.0	4.0	unscreened	-	4180_17:1174405-1174405 C>T_PSAPRCASCPPHVPLARPSAVAEGP
15:60297848-60297848 C>-	0.0	4180	BREAST	-	-	-	-	FOXB1	uc021sna.1,p.T229fs|ENST00000396057,p.T229fs|uc002agj.1,p.T229fs|NM_012182,p.T229fs	protein_coding, processed_transcript	uc021sna.1	frameshift deletion	exon1	c.686delC	p.T229fs	HVYGSAGMIDSATPISMASGDYSAY	HVYGSAGMIDSATPSPWRVATTAPTACR	1.0	3.0	unscreened	-	4180_15:60297848-60297848 C>-_HVYGSAGMIDSATPSPWRVATTAPTACR
3:29323189-29323189 A>G	0.0	4180	BREAST	-	-	-	-	RBMS3	NM_001003793,p.D6G|NM_014483,p.D6G|ENST00000383767,p.D6G|uc010hfr.3,p.D6G|uc003cem.3,p.D6G|ENST00000396583,p.D6G|ENST00000452462,p.D6G|ENST00000383766,p.D6G|uc010hfq.3,p.D6G|uc003cek.3,p.D6G|ENST00000273139,p.D6G|ENST00000456853,p.D6G|NM_001003792,p.D6G|NM_001177711,p.D6G|ENST00000445033,p.D6G|uc003cel.3,p.D6G|ENST00000434693,p.D6G|NM_001177712,p.D6G	retained_intron, protein_coding, processed_transcript	uc010hfr.3	nonsynonymous SNV	exon1	c.A17G	p.D6G	MGKRLDQPQMYPQYTYYY	MGKRLGQPQMYPQYTYYY	5.0	5.0	unscreened	-	4180_3:29323189-29323189 A>G_MGKRLGQPQMYPQYTYYY
11:46404341-46404344 CCCC>-	0.0	4180	BREAST	-	-	-	-	MDK	ENST00000489525,p.A150fs|uc009ykz.1,p.A150fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009ykz.1	frameshift deletion	exon4	c.449_452del	p.A150fs	RKEKGVGLSRGAAPPPPRL	RKEKGVGLSRGAAPPPAC	10.0	10.0	unscreened	-	4180_11:46404341-46404344 CCCC>-_RKEKGVGLSRGAAPPPAC
3:184045228-184045228 G>A	0.0	4180	BREAST	-	-	-	-	EIF4G1	ENST00000435046,p.R1022Q|NM_004953,p.R1023Q|uc003fnv.4,p.R1219Q|ENST00000427845,p.R1132Q|NM_198241,p.R1218Q|NM_001291157,p.R1178Q|NM_001194947,p.R1225Q|ENST00000319274,p.R1218Q|ENST00000352767,p.R1225Q|uc010hxx.3,p.R1225Q|ENST00000382330,p.R1225Q|NM_001194946,p.R1225Q|ENST00000414031,p.R1178Q|uc003fnt.3,p.R929Q|uc003fnw.3,p.R1225Q|uc003fnx.3,p.R1023Q|ENST00000392537,p.R1131Q|uc003fnp.3,p.R1218Q|NM_182917,p.R1219Q|uc003fnr.3,p.R1054Q|uc010hxy.3,p.R1225Q|ENST00000424196,p.R1225Q|ENST00000411531,p.R1179Q|ENST00000434061,p.R1023Q|ENST00000441154,p.R1055Q|uc003fnq.3,p.R1131Q|NM_198242,p.R1054Q|ENST00000350481,p.R1054Q|NM_198244,p.R1131Q|uc003fns.3,p.R1178Q|ENST00000342981,p.R1219Q|ENST00000346169,p.R1218Q	retained_intron, protein_coding, nonsense_mediated_decay	uc010hxy.3	nonsynonymous SNV	exon24	c.G3674A	p.R1225Q	KAASLTEDRDRGRDAVKREAALPPV	KAASLTEDRDRGQDAVKREAALPPV	10.0	1.0	unscreened	-	4180_3:184045228-184045228 G>A_KAASLTEDRDRGQDAVKREAALPPV
17:48597131-48597131 C>T	0.0	4180	BREAST	-	-	-	-	MYCBPAP	uc010wmr.2,p.S343F|ENST00000323776,p.S343F|ENST00000436259,p.S306F|NM_032133,p.S343F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wmr.2	nonsynonymous SNV	exon7	c.C1028T	p.S343F	LMEPITHIRKPHSIRVETGLPAQRD	LMEPITHIRKPHFIRVETGLPAQRD	4.0	10.0	unscreened	-	4180_17:48597131-48597131 C>T_LMEPITHIRKPHFIRVETGLPAQRD
6:131958594-131958594 G>A	0.0	4180	BREAST	-	-	ID=COSM274970;OCCURENCE=1(large_intestine)	-	ENPP3	uc003qcu.4,p.A24T|ENST00000358229,p.A24T|uc003qcv.3,p.A24T|ENST00000414305,p.A24T|NM_005021,p.A24T|ENST00000357639,p.A24T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003qcv.3	nonsynonymous SNV	exon1	c.G70A	p.A24T	PVKKNTLKKYKIACIVLLALLVIMS	PVKKNTLKKYKITCIVLLALLVIMS	2.0	10.0	unscreened	-	4180_6:131958594-131958594 G>A_PVKKNTLKKYKITCIVLLALLVIMS
12:100806584-100806584 G>A	0.0	4180	BREAST	-	-	-	-	SLC17A8	uc009ztx.3,p.G358D|ENST00000323346,p.G408D|NM_001145288,p.G358D|ENST00000392989,p.G358D|uc010svi.2,p.G408D|NM_139319,p.G408D	retained_intron, protein_coding, processed_transcript	uc010svi.2	nonsynonymous SNV	exon10	c.G1223A	p.G408D	GFGMEATLLLVVGFSHTKGVAISFL	GFGMEATLLLVVDFSHTKGVAISFL	1.0	1.0	unscreened	-	4180_12:100806584-100806584 G>A_GFGMEATLLLVVDFSHTKGVAISFL
16:3017644-3017644 G>C	1.0	4180	BREAST	-	-	-	-	KREMEN2	uc010bsw.2,p.W406S|ENST00000575769,p.W406S	protein_coding	uc010bsw.2	nonsynonymous SNV	exon8	c.G1217C	p.W406S	CGALGQGLRADRWWGAGAPEGNRAR	CGALGQGLRADRSWGAGAPEGNRAR	3.0	10.0	unscreened	-	4180_16:3017644-3017644 G>C_CGALGQGLRADRSWGAGAPEGNRAR
1:1896430-1896430 G>A	0.0	4180	BREAST	-	-	-	-	CFAP74	NM_001080484,p.T491M|ENST00000604159,p.T76M|uc009vkz.1,p.T491M|uc001aim.1,p.T491M	retained_intron, protein_coding, processed_transcript	uc009vkz.1	nonsynonymous SNV	exon12	c.C1472T	p.T491M	GGTKMDKDILERTVERLRSRVVHKQ	GGTKMDKDILERMVERLRSRVVHKQ	2.0	1.0	unscreened	-	4180_1:1896430-1896430 G>A_GGTKMDKDILERMVERLRSRVVHKQ
2:145162432-145162432 G>A	0.0	4180	BREAST	-	-	-	-	ZEB2	uc010zbm.2,p.T164M|uc002tvv.3,p.T182M|uc002tvu.3,p.T188M|ENST00000392861,p.T188M|uc010fnq.1,p.T217M|NM_014795,p.T188M|ENST00000427902,p.T188M|NM_001171653,p.T164M|ENST00000303660,p.T188M|ENST00000539609,p.T164M|ENST00000409487,p.T188M|ENST00000558170,p.T188M	retained_intron, protein_coding, processed_transcript	uc010zbm.2	nonsynonymous SNV	exon4	c.C491T	p.T164M	YPEAPEELSRLGTPEANGQEENDLP	YPEAPEELSRLGMPEANGQEENDLP	7.0	9.0	unscreened	-	4180_2:145162432-145162432 G>A_YPEAPEELSRLGMPEANGQEENDLP
19:52131257-52131257 G>-	0.0	4180	BREAST	-	-	ID=COSM391875;OCCURENCE=1(lung)	-	SIGLEC5	ENST00000222107,p.P276fs|ENST00000599649,p.P276fs|uc002pxe.4,p.P276fs|ENST00000570106,p.P276fs|NM_003830,p.P276fs|ENST00000429354,p.P276fs|ENST00000534261,p.P276fs	protein_coding	uc002pxe.4	frameshift deletion	exon5	c.827delC	p.P276fs	ALRLLCDAPSNPPAHLSWFQGSPAL	ALRLLCDAPSNPLHT	6.0	1.0	unscreened	-	4180_19:52131257-52131257 G>-_ALRLLCDAPSNPLHT
1:25747250-25747250 G>A	0.0	4180	BREAST	-	-	-	-	RHCE	ENST00000243186,p.R10W|ENST00000533771,p.R10W|uc031pln.1,p.R10W|ENST00000346452,p.R10W|ENST00000455194,p.R10W|ENST00000425135,p.R10W|ENST00000340849,p.R10W|ENST00000294413,p.R10W|uc031plo.1,p.R10W|ENST00000349438,p.R10W|ENST00000413854,p.R10W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031plo.1	nonsynonymous SNV	exon1	c.C28T	p.R10W	MSSKYPRSVRRCLPLCALTLEA	MSSKYPRSVWRCLPLCALTLEA	4.0	9.0	unscreened	-	4180_1:25747250-25747250 G>A_MSSKYPRSVWRCLPLCALTLEA
14:24879138-24879138 T>C	0.0	4180	BREAST	-	-	-	-	NYNRIN	NM_025081,p.L713S|ENST00000382554,p.L713S|uc001wpf.4,p.L713S	protein_coding, processed_transcript	uc001wpf.4	nonsynonymous SNV	exon4	c.T2138C	p.L713S	SEVQPTSRASVSLLKGQGQAGRQGP	SEVQPTSRASVSSLKGQGQAGRQGP	4.0	10.0	unscreened	-	4180_14:24879138-24879138 T>C_SEVQPTSRASVSSLKGQGQAGRQGP
11:556972-556972 C>-	0.0	4180	BREAST	-	-	-	-	LMNTD2	ENST00000329451,p.G280fs|uc001lpx.3,p.G280fs|NM_173573,p.G280fs	retained_intron, protein_coding	uc001lpx.3	frameshift deletion	exon8	c.839delG	p.G280fs	GSLPCLNTSSSGGADSDSSSCRPGL	GSLPCLNTSSSGALTPTPAAAGRACLPSCR	5.0	8.0	unscreened	-	4180_11:556972-556972 C>-_GSLPCLNTSSSGALTPTPAAAGRACLPSCR
19:41018572-41018572 C>A	0.0	4180	BREAST	-	-	-	-	SPTBN4	ENST00000344104,p.L626M|NM_020971,p.L626M|uc002onx.3,p.L626M|ENST00000595535,p.L626M|ENST00000338932,p.L626M|ENST00000352632,p.L626M|ENST00000597389,p.L18M|ENST00000598249,p.L626M|uc002onz.3,p.L626M|uc002ony.3,p.L626M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002onz.3	nonsynonymous SNV	exon14	c.C1876A	p.L626M	VICNRVNHVHGCLAELQEQAARRRA	VICNRVNHVHGCMAELQEQAARRRA	2.0	2.0	unscreened	-	4180_19:41018572-41018572 C>A_VICNRVNHVHGCMAELQEQAARRRA
18:52258540-52258540 A>G	0.0	4180	BREAST	-	-	-	-	DYNAP	NM_173629,p.I35M|uc002lfq.1,p.I35M|ENST00000321600,p.I35M	protein_coding	uc002lfq.1	nonsynonymous SNV	exon1	c.A105G	p.I35M	GSSRMDRKHGKYILNVEHSENQPPI	GSSRMDRKHGKYMLNVEHSENQPPI	1.0	10.0	unscreened	-	4180_18:52258540-52258540 A>G_GSSRMDRKHGKYMLNVEHSENQPPI
1:109865648-109865648 G>A	0.0	4180	BREAST	-	-	-	-	SORT1	uc010ovi.2,p.R507W|ENST00000256637,p.R644W|uc001dxm.2,p.R644W|NM_002959,p.R644W|NM_001205228,p.R507W|ENST00000538502,p.R507W	retained_intron, protein_coding, processed_transcript	uc010ovi.2	nonsynonymous SNV	exon15	c.C1519T	p.R507W	DGCILGYKEQFLRLRKSSVCQNGRD	DGCILGYKEQFLWLRKSSVCQNGRD	7.0	2.0	unscreened	-	4180_1:109865648-109865648 G>A_DGCILGYKEQFLWLRKSSVCQNGRD
19:53572625-53572625 A>T	0.0	4180	BREAST	-	-	-	-	ZNF160	ENST00000599056,p.W388R|uc002qaq.4,p.W388R|ENST00000418871,p.W388R|ENST00000601421,p.W352R|uc002qar.4,p.W388R|uc010eqk.3,p.W388R|NM_198893,p.W388R|NM_033288,p.W388R|ENST00000599247,p.W388R|NM_001102603,p.W388R|ENST00000429604,p.W388R	retained_intron, protein_coding, processed_transcript	uc010eqk.3	nonsynonymous SNV	exon7	c.T1162A	p.W388R	KLFTQNSHLISHWRIHTGEKPYKCN	KLFTQNSHLISHRRIHTGEKPYKCN	7.0	3.0	unscreened	-	4180_19:53572625-53572625 A>T_KLFTQNSHLISHRRIHTGEKPYKCN
16:68941393-68941393 A>G	0.0	4180	BREAST	-	-	-	-	TANGO6	ENST00000261778,p.Q572R|NM_024562,p.Q572R|uc002ewi.4,p.Q572R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ewi.4	nonsynonymous SNV	exon10	c.A1715G	p.Q572R	EDEALYQKVSSEQGRVEHLGDLLSH	EDEALYQKVSSERGRVEHLGDLLSH	6.0	6.0	unscreened	-	4180_16:68941393-68941393 A>G_EDEALYQKVSSERGRVEHLGDLLSH
1:148582503-148582503 A>G	0.0	4180	BREAST	-	-	-	-	NBPF15	uc001esb.2,p.H246R|ENST00000442702,p.H246R|NM_173638,p.H246R|NM_001170755,p.H246R|ENST00000369187,p.H246R|uc001esc.2,p.H246R	protein_coding, processed_transcript	uc001esc.2	nonsynonymous SNV	exon9	c.A737G	p.H246R	DKVDSTLIGSSSHVEWEDAVHIIPE	DKVDSTLIGSSSRVEWEDAVHIIPE	8.0	2.0	unscreened	-	4180_1:148582503-148582503 A>G_DKVDSTLIGSSSRVEWEDAVHIIPE
17:34144723-34144723 C>T	1.0	4180	BREAST	-	-	-	1	TAF15	uc002hkc.4,p.S4F|ENST00000587272,p.S4F|NM_139215,p.S4F|uc002hkd.4,p.S4F|ENST00000588240,p.S4F|ENST00000311979,p.S4F|NM_003487,p.S4F|ENST00000590273,p.S4F	retained_intron, protein_coding, nonsense_mediated_decay	uc002hkd.4	nonsynonymous SNV	exon2	c.C11T	p.S4F	MSDSGSYGQSGGEQQS	MSDFGSYGQSGGEQQS	9.0	10.0	-	-	4180_17:34144723-34144723 C>T_MSDFGSYGQSGGEQQS
5:147040656-147040656 G>A	0.0	4180	BREAST	-	-	-	-	JAKMIP2	uc003lor.2,p.T161M|ENST00000265272,p.T161M|NM_014790,p.T161M|uc011dbx.2,p.T119M|NM_001270934,p.T161M|uc010jgo.2,p.T161M|ENST00000333010,p.T119M|uc003loq.2,p.T161M|NM_001270941,p.T161M|NM_001282282,p.T119M|ENST00000507386,p.T161M	retained_intron, protein_coding	uc011dbx.2	nonsynonymous SNV	exon2	c.C356T	p.T119M	RLKLLQEIADLKTAKKQVDEALSNM	RLKLLQEIADLKMAKKQVDEALSNM	5.0	1.0	unscreened	-	4180_5:147040656-147040656 G>A_RLKLLQEIADLKMAKKQVDEALSNM
19:1236047-1236049 GTG>-	0.0	4180	BREAST	-	-	-	-	C19orf26	uc002lrm.3,p.17_18del|ENST00000590083,p.17_18del|NM_152769,p.17_18del	protein_coding, nonsense_mediated_decay	uc002lrm.3	nonframeshift deletion	exon2	c.51_53del	p.17_18del	ATMATAATTTTTTTATVALTTSWDN	ATMATAATTTTTTATVALTTSWDNA	2.0	4.0	unscreened	-	4180_19:1236047-1236049 GTG>-_ATMATAATTTTTTATVALTTSWDNA
18:52258540-52258540 A>G	0.0	4180	BREAST	-	-	-	-	DYNAP	ENST00000585973,p.I38M	protein_coding	ENST00000585973	nonsynonymous SNV	exon2	c.A114G	p.I38M	GSSRMDRKHGKYILNVEHSENQPVK	GSSRMDRKHGKYMLNVEHSENQPVK	1.0	10.0	unscreened	-	4180_18:52258540-52258540 A>G_GSSRMDRKHGKYMLNVEHSENQPVK
5:143853421-143853421 G>A	0.0	4180	BREAST	-	-	ID=COSM292188;OCCURENCE=3(large_intestine)	-	KCTD16	uc003lnm.1,p.R344H|ENST00000507359,p.R344H|NM_020768,p.R344H|ENST00000512467,p.R344H|uc003lnn.1,p.R344H	protein_coding	uc003lnn.1	nonsynonymous SNV	exon3	c.G1031A	p.R344H	PVTRQTNIQTLDRPIKKGPVQLIQQ	PVTRQTNIQTLDHPIKKGPVQLIQQ	2.0	9.0	unscreened	-	4180_5:143853421-143853421 G>A_PVTRQTNIQTLDHPIKKGPVQLIQQ
9:35792410-35792410 C>T	0.0	4180	BREAST	-	-	-	-	NPR2	uc003zyd.3,p.A2V|uc010mlb.3,p.A2V|ENST00000342694,p.A2V|NM_003995,p.A2V	retained_intron, protein_coding, nonsense_mediated_decay	uc010mlb.3	nonsynonymous SNV	exon1	c.C5T	p.A2V	MALPSLLLLVAALA	MVLPSLLLLVAALA	4.0	8.0	unscreened	-	4180_9:35792410-35792410 C>T_MVLPSLLLLVAALA
19:38102620-38102620 A>-	0.0	4180	BREAST	-	-	ID=COSM1393240;OCCURENCE=3(large_intestine)	-	ZNF540	ENST00000586134,p.K147fs|ENST00000589117,p.K115fs|ENST00000343599,p.K147fs|uc002ogq.4,p.K147fs|NM_001172225,p.K147fs|NM_152606,p.K147fs|ENST00000592533,p.K147fs|uc002ogu.4,p.K147fs|ENST00000316433,p.K147fs|uc010efq.4,p.K115fs|NM_001172226,p.K115fs	retained_intron, protein_coding, processed_transcript	uc010efq.4	frameshift deletion	exon4	c.343delA	p.K115fs	KERSISQKKIVSKKMSTDRKRPSFT	KERSISQKKIVSKKCQLIENVPLLL	3.0	7.0	unscreened	-	4180_19:38102620-38102620 A>-_KERSISQKKIVSKKCQLIENVPLLL
15:49170657-49170657 G>A	1.0	4180	BREAST	-	-	-	-	EID1	ENST00000560490,p.S73N|uc001zxc.1,p.S95N|NM_014335,p.S95N|ENST00000530028,p.S95N	protein_coding, processed_transcript	uc001zxc.1	nonsynonymous SNV	exon1	c.G284A	p.S95N	EQPGQVAGADFESEDEGEEFDDWED	EQPGQVAGADFENEDEGEEFDDWED	10.0	9.0	-	-	4180_15:49170657-49170657 G>A_EQPGQVAGADFENEDEGEEFDDWED
22:25152511-25152511 G>A	0.0	4180	BREAST	0.0018	-	-	-	PIWIL3	ENST00000527701,p.R64C|uc010gut.2,p.R173C|uc011ajx.2,p.R64C|NM_001008496,p.R173C|ENST00000533313,p.R64C|uc011ajy.2,p.R64C|ENST00000332271,p.R173C|NM_001255975,p.R173C|uc003abd.2,p.R173C	protein_coding, processed_transcript	uc011ajy.2	nonsynonymous SNV	exon6	c.C190T	p.R64C	ILLDQHRRKFGERHIFDGNSLLLSR	ILLDQHRRKFGECHIFDGNSLLLSR	1.0	5.0	unscreened	-	4180_22:25152511-25152511 G>A_ILLDQHRRKFGECHIFDGNSLLLSR
5:175959148-175959148 G>A	0.0	4180	BREAST	-	-	-	-	RNF44	NM_014901,p.R52C|ENST00000274811,p.R52C|uc003mek.1,p.R52C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003mek.1	nonsynonymous SNV	exon3	c.C154T	p.R52C	EGPLASPPARDERLPSQQPPSRPPH	EGPLASPPARDECLPSQQPPSRPPH	8.0	10.0	unscreened	-	4180_5:175959148-175959148 G>A_EGPLASPPARDECLPSQQPPSRPPH
19:13325133-13325133 C>T	0.0	4180	BREAST	-	-	ID=COSM86194;OCCURENCE=1(ovary)	-	CACNA1A	ENST00000573710,p.V1953M|uc010dzc.2,p.V1478M|NM_001127221,p.V1953M|uc021upt.1,p.V1953M|ENST00000587525,p.V439M|ENST00000585802,p.V638M|uc002mwy.3,p.V1952M|NM_001127222,p.V1952M|uc002mwv.3,p.V469M|uc002mwx.3,p.V658M|ENST00000360228,p.V1952M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021upt.1	nonsynonymous SNV	exon40	c.G5857A	p.V1953M	LLVTPHKSTDLTVGKIYAAMMIMEY	LLVTPHKSTDLTMGKIYAAMMIMEY	4.0	3.0	unscreened	-	4180_19:13325133-13325133 C>T_LLVTPHKSTDLTMGKIYAAMMIMEY
7:98256603-98256603 G>C	0.0	4180	BREAST	-	-	-	-	NPTX2	ENST00000265634,p.A339P|uc003upl.2,p.A339P|NM_002523,p.A339P	retained_intron, protein_coding	uc003upl.2	nonsynonymous SNV	exon4	c.G1015C	p.A339P	QDGEKLGTGENLAPWHPIKPGGVLI	QDGEKLGTGENLPPWHPIKPGGVLI	4.0	1.0	unscreened	-	4180_7:98256603-98256603 G>C_QDGEKLGTGENLPPWHPIKPGGVLI
2:179495607-179495607 C>T	0.0	4180	BREAST	-	-	-	-	TTN	uc021vsy.2,p.R12125H|ENST00000591111,p.R13052H|NM_133378,p.R12125H|ENST00000359218,p.R5753H|ENST00000342992,p.R12125H|uc021vtb.2,p.R5628H|ENST00000342175,p.R5820H|uc031rqd.1,p.R13052H|NM_133437,p.R5820H|NM_133432,p.R5753H|ENST00000589042,p.R14693H|NM_001267550,p.R14693H|uc021vsz.2,p.R5820H|uc031rqc.1,p.R14693H|NM_001256850,p.R13052H|ENST00000460472,p.R5628H|NM_003319,p.R5628H|uc021vta.2,p.R5753H	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon188	c.G39155A	p.R13052H	LHSVEVMETETARFETEISEDDIHA	LHSVEVMETETAHFETEISEDDIHA	2.0	6.0	unscreened	-	4180_2:179495607-179495607 C>T_LHSVEVMETETAHFETEISEDDIHA
17:66550963-66550963 T>C	0.0	4180	BREAST	-	-	-	-	FAM20A	uc002jho.3,p.S199G|uc010wqp.2,p.S61G|NM_017565,p.S199G|NM_001243746,p.S61G|ENST00000592554,p.S199G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wqp.2	nonsynonymous SNV	exon4	c.A181G	p.S61G	DMRHFPTISADYSQDEKALLGACDC	DMRHFPTISADYGQDEKALLGACDC	7.0	4.0	unscreened	-	4180_17:66550963-66550963 T>C_DMRHFPTISADYGQDEKALLGACDC
11:27407004-27407004 G>A	0.0	4180	BREAST	-	-	-	-	LGR4	ENST00000480977,p.A90V	retained_intron, protein_coding, processed_transcript	ENST00000480977	nonsynonymous SNV	exon3	c.C269T	p.A90V	KNFPFLEELRLDANHITSVPEDSFE	KNFPFLEELRLDVNHITSVPEDSFE	7.0	4.0	unscreened	-	4180_11:27407004-27407004 G>A_KNFPFLEELRLDVNHITSVPEDSFE
22:30891764-30891764 G>-	0.0	4180	BREAST	-	-	-	-	SEC14L4	uc003aie.2,p.Q32fs|ENST00000540456,p.Q32fs	protein_coding, nonsense_mediated_decay	uc003aie.2	frameshift deletion	exon4	c.94delC	p.Q32fs	NPKTCSEGPKSPQPTSCPHALRAWH	NPKTCSEGPKSPSPPPVPTL	2.0	1.0	unscreened	-	4180_22:30891764-30891764 G>-_NPKTCSEGPKSPSPPPVPTL
22:41634481-41634481 G>A	0.0	4180	BREAST	-	-	-	-	CHADL	NM_138481,p.P199S|uc003azq.4,p.P199S|uc010gyj.3,p.P199S|ENST00000216241,p.P199S	protein_coding	uc010gyj.3	nonsynonymous SNV	exon3	c.C595T	p.P199S	LRLSHNALSVLAPEALAGLPALRRL	LRLSHNALSVLASEALAGLPALRRL	4.0	6.0	unscreened	-	4180_22:41634481-41634481 G>A_LRLSHNALSVLASEALAGLPALRRL
19:110836-110836 A>G	0.0	4180	BREAST	-	-	-	-	OR4F17	NM_001005240,p.Y53C|ENST00000318050,p.Y53C|uc002lob.1,p.Y53C|uc002loc.1,p.Y53C|ENST00000585993,p.Y53C	protein_coding	uc002loc.1	nonsynonymous SNV	exon1	c.A158G	p.Y53C	TVVSDSHLHSPMYFLLANLSLIDLS	TVVSDSHLHSPMCFLLANLSLIDLS	1.0	3.0	unscreened	-	4180_19:110836-110836 A>G_TVVSDSHLHSPMCFLLANLSLIDLS
19:3595835-3595835 G>A	1.0	4180	BREAST	-	-	-	-	TBXA2R	ENST00000589966,p.A165V	protein_coding, processed_transcript	ENST00000589966	nonsynonymous SNV	exon2	c.C494T	p.A165V	VPHHGEGAAHLLARGHLEPDPGPLG	VPHHGEGAAHLLVRGHLEPDPGPLG	5.0	10.0	unscreened	-	4180_19:3595835-3595835 G>A_VPHHGEGAAHLLVRGHLEPDPGPLG
3:48627130-48627130 G>A	0.0	4180	BREAST	-	-	-	-	COL7A1	uc003ctz.2,p.T691M|NM_000094,p.T691M|ENST00000454817,p.T691M|ENST00000328333,p.T691M	retained_intron, protein_coding, processed_transcript	uc003ctz.2	nonsynonymous SNV	exon16	c.C2072T	p.T691M	IVARTDPLGPVRTVHVTQASSSSVT	IVARTDPLGPVRMVHVTQASSSSVT	5.0	9.0	unscreened	-	4180_3:48627130-48627130 G>A_IVARTDPLGPVRMVHVTQASSSSVT
2:114257443-114257443 A>C	0.0	4180	BREAST	-	-	-	-	FOXD4L1	uc002tjw.4,p.K204Q|ENST00000306507,p.K204Q|NM_012184,p.K204Q	protein_coding	uc002tjw.4	nonsynonymous SNV	exon1	c.A610C	p.K204Q	DNGSFLRRRKRFKRHQLTPGAHLPH	DNGSFLRRRKRFQRHQLTPGAHLPH	3.0	6.0	unscreened	-	4180_2:114257443-114257443 A>C_DNGSFLRRRKRFQRHQLTPGAHLPH
7:57187929-57187929 A>T	0.0	4180	BREAST	-	-	ID=COSM400677;OCCURENCE=1(lung)	2	ZNF479	ENST00000331162,p.I398N|uc010kzo.3,p.I398N|NM_033273,p.I398N	protein_coding	uc010kzo.3	nonsynonymous SNV	exon5	c.T1193A	p.I398N	CGQDFRRSSALTIHKRIHTGERPYK	CGQDFRRSSALTNHKRIHTGERPYK	1.0	5.0	unscreened	-	4180_7:57187929-57187929 A>T_CGQDFRRSSALTNHKRIHTGERPYK
11:45671824-45671824 C>T	0.0	4180	BREAST	-	-	ID=COSM3383473;OCCURENCE=1(pancreas)	-	CHST1	uc021qgn.1,p.R217H|ENST00000308064,p.R217H|uc001mys.2,p.R217H|NM_003654,p.R217H	retained_intron, protein_coding, processed_transcript	uc021qgn.1	nonsynonymous SNV	exon1	c.G650A	p.R217H	IKTVRVPEVNDLRALVEDPRLNLKV	IKTVRVPEVNDLHALVEDPRLNLKV	4.0	9.0	unscreened	-	4180_11:45671824-45671824 C>T_IKTVRVPEVNDLHALVEDPRLNLKV
2:219920561-219920561 C>T	0.0	4180	BREAST	-	-	-	-	IHH	uc002vjo.2,p.G202S|ENST00000295731,p.G202S|NM_002181,p.G202S	protein_coding	uc002vjo.2	nonsynonymous SNV	exon3	c.G604A	p.G202S	VKSEHSAAAKTGGCFPAGAQVRLES	VKSEHSAAAKTGSCFPAGAQVRLES	1.0	7.0	unscreened	-	4180_2:219920561-219920561 C>T_VKSEHSAAAKTGSCFPAGAQVRLES
14:30068292-30068292 C>T	0.0	4180	BREAST	-	-	ID=COSM297452,COSM297451;OCCURENCE=1(large_intestine)	-	PRKD1	ENST00000415220,p.V711I|NM_002742,p.V703I|ENST00000331968,p.V703I|uc001wqh.3,p.V703I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wqh.3	nonsynonymous SNV	exon15	c.G2107A	p.V703I	LVALRHLHFKNIVHCDLKPENVLLA	LVALRHLHFKNIIHCDLKPENVLLA	5.0	1.0	unscreened	-	4180_14:30068292-30068292 C>T_LVALRHLHFKNIIHCDLKPENVLLA
17:72738417-72738417 G>A	0.0	4180	BREAST	-	-	-	-	RAB37	NM_001163990,p.V40M|uc010wre.2,p.V40M|ENST00000392612,p.V40M	retained_intron, protein_coding, nonsense_mediated_decay	uc010wre.2	nonsynonymous SNV	exon2	c.G118A	p.V40M	LTGKNKVVTVDGVRVKLQIWDTAGQ	LTGKNKVVTVDGMRVKLQIWDTAGQ	5.0	2.0	unscreened	-	4180_17:72738417-72738417 G>A_LTGKNKVVTVDGMRVKLQIWDTAGQ
17:72738417-72738417 G>A	0.0	4180	BREAST	-	-	-	-	RAB37	ENST00000392615,p.V45M	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000392615	nonsynonymous SNV	exon2	c.G133A	p.V45M	GNSKNKVVTVDGVRVKLQIWDTAGQ	GNSKNKVVTVDGMRVKLQIWDTAGQ	5.0	2.0	unscreened	-	4180_17:72738417-72738417 G>A_GNSKNKVVTVDGMRVKLQIWDTAGQ
17:72738417-72738417 G>A	0.0	4180	BREAST	-	-	-	-	RAB37	uc002jlk.3,p.V77M|uc010wrb.2,p.V45M|ENST00000392610,p.V77M|ENST00000481224,p.V77M|NM_001006638,p.V77M|ENST00000392614,p.V82M|ENST00000528438,p.V50M|uc010wrc.2,p.V82M|ENST00000392613,p.V77M|NM_001163989,p.V82M	retained_intron, protein_coding, nonsense_mediated_decay	uc010wrc.2	nonsynonymous SNV	exon3	c.G244A	p.V82M	IDFRNKVVTVDGVRVKLQIWDTAGQ	IDFRNKVVTVDGMRVKLQIWDTAGQ	5.0	2.0	unscreened	-	4180_17:72738417-72738417 G>A_IDFRNKVVTVDGMRVKLQIWDTAGQ
17:72738417-72738417 G>A	0.0	4180	BREAST	-	-	-	-	RAB37	ENST00000340415,p.V70M|NM_175738,p.V70M|uc002jlc.2,p.V70M|uc002jld.2,p.V70M|ENST00000402449,p.V70M|uc010dfu.3,p.V70M	retained_intron, protein_coding, nonsense_mediated_decay	uc010dfu.3	nonsynonymous SNV	exon3	c.G208A	p.V70M	IGFTNKVVTVDGVRVKLQIWDTAGQ	IGFTNKVVTVDGMRVKLQIWDTAGQ	5.0	2.0	unscreened	-	4180_17:72738417-72738417 G>A_IGFTNKVVTVDGMRVKLQIWDTAGQ
7:4011183-4011183 C>-	0.0	4180	BREAST	-	-	-	-	SDK1	ENST00000404826,p.D600fs|ENST00000389531,p.D600fs|uc003smx.3,p.D600fs|NM_152744,p.D600fs	retained_intron, protein_coding, processed_transcript	uc003smx.3	frameshift deletion	exon12	c.1800delC	p.D600fs	GTTATLHCGATHDPRVSLRYVWKKD	GTTATLHCGATHDPGFHSATFGRRTTWP	4.0	3.0	unscreened	-	4180_7:4011183-4011183 C>-_GTTATLHCGATHDPGFHSATFGRRTTWP
12:109625811-109625811 A>C	0.0	4180	BREAST	-	-	-	-	ACACB	NM_001093,p.K663T|ENST00000377854,p.K663T|ENST00000338432,p.K663T|ENST00000377848,p.K663T|uc001tob.3,p.K663T|uc001toc.3,p.K663T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001toc.3	nonsynonymous SNV	exon12	c.A1988C	p.K663T	ARITSENPDEGFKPSSGTVQELNFR	ARITSENPDEGFTPSSGTVQELNFR	5.0	6.0	unscreened	-	4180_12:109625811-109625811 A>C_ARITSENPDEGFTPSSGTVQELNFR
4:2200353-2200353 G>T	0.0	4180	BREAST	-	-	-	-	POLN	ENST00000382865,p.P269H|NM_181808,p.P269H|uc003ger.2,p.P269H|ENST00000511885,p.P269H|uc011bvi.1,p.P269H	retained_intron, protein_coding, processed_transcript	uc011bvi.1	nonsynonymous SNV	exon6	c.C806A	p.P269H	GGHGCPDAPACGPVLEGFVSDDPCI	GGHGCPDAPACGHVLEGFVSDDPCI	3.0	2.0	unscreened	-	4180_4:2200353-2200353 G>T_GGHGCPDAPACGHVLEGFVSDDPCI
X:7171350-7171350 C>A	0.0	4180	BREAST	-	-	-	-	STS	uc004cry.4,p.P42H|ENST00000217961,p.P42H|NM_000351,p.P42H	protein_coding	uc004cry.4	nonsynonymous SNV	exon2	c.C125A	p.P42H	ILVMADDLGIGDPGCYGNKTIRTPN	ILVMADDLGIGDHGCYGNKTIRTPN	5.0	2.0	unscreened	-	4180_X:7171350-7171350 C>A_ILVMADDLGIGDHGCYGNKTIRTPN
X:131219964-131219964 A>C	0.0	4180	BREAST	-	-	-	-	FRMD7	uc011muy.2,p.F146V|uc004ewn.3,p.F161V|ENST00000464296,p.F146V|NM_194277,p.F161V|ENST00000298542,p.F161V|uc022cdy.1,p.F41V|ENST00000370879,p.F41V	protein_coding	uc022cdy.1	nonsynonymous SNV	exon2	c.T121G	p.F41V	PNQDCLEGKIMHFHQKHIGRSPAES	PNQDCLEGKIMHVHQKHIGRSPAES	2.0	8.0	unscreened	-	4180_X:131219964-131219964 A>C_PNQDCLEGKIMHVHQKHIGRSPAES
12:56631388-56631388 G>A	0.0	4180	BREAST	-	-	-	-	SLC39A5	uc010sqk.2,p.R499H|NM_001135195,p.R499H|uc010sqj.2,p.R499H|ENST00000266980,p.R499H|NM_173596,p.R499H|ENST00000454355,p.R499H	retained_intron, protein_coding, processed_transcript	uc010sqk.2	nonsynonymous SNV	exon11	c.G1496A	p.R499H	YVALVDMLPALLRPPEPLPTPHVLL	YVALVDMLPALLHPPEPLPTPHVLL	1.0	2.0	unscreened	-	4180_12:56631388-56631388 G>A_YVALVDMLPALLHPPEPLPTPHVLL
4:89653192-89653192 C>A	0.0	4180	BREAST	-	-	-	-	FAM13A	NM_001265578,p.S595I|ENST00000503556,p.S595I|ENST00000508369,p.S609I|ENST00000395002,p.S581I|uc003hse.2,p.S935I|uc003hsb.2,p.S609I|uc003hsd.2,p.S581I|uc003hsc.2,p.S595I|uc011cdq.2,p.S581I|NM_001265580,p.S581I|NM_001015045,p.S609I|uc003hsg.2,p.S378I|NM_001265579,p.S581I|uc003hsf.2,p.S521I|NM_014883,p.S935I|uc003hsa.2,p.S378I|ENST00000513837,p.S581I|ENST00000511976,p.S521I|ENST00000264344,p.S935I|uc011cdp.2,p.S37I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cdq.2	nonsynonymous SNV	exon14	c.G1742T	p.S581I	ISPMDDKIPSKCSQDTGLSNLHAAS	ISPMDDKIPSKCIQDTGLSNLHAAS	6.0	7.0	unscreened	-	4180_4:89653192-89653192 C>A_ISPMDDKIPSKCIQDTGLSNLHAAS
2:27305818-27305818 ->G	0.0	4180	BREAST	-	-	-	-	EMILIN1	uc010eyq.2,p.L460fs	protein_coding	uc010eyq.2	frameshift insertion	exon4	c.1380dupG	p.L460fs	QLGGLLANVSGELGGRLDLLEEQDS	QLGGLLANVSGELGGAVGSVGGAGLSSQRDPQCLGAQGAGQ	8.0	6.0	unscreened	-	4180_2:27305818-27305818 ->G_QLGGLLANVSGELGGAVGSVGGAGLSSQRDPQCLGAQGAGQ
11:101833282-101833282 A>G	0.0	4180	BREAST	-	-	-	-	KIAA1377	uc001pgm.3,p.K506E|ENST00000263468,p.K506E|uc010run.2,p.K307E|uc009yxa.1,p.K307E|ENST00000537689,p.K307E|NM_020802,p.K506E|uc001pgn.3,p.K462E	protein_coding, nonsense_mediated_decay	uc010run.2	nonsynonymous SNV	exon3	c.A919G	p.K307E	LDELKDGKEEEIKYFNCNKEELPLF	LDELKDGKEEEIEYFNCNKEELPLF	2.0	2.0	unscreened	-	4180_11:101833282-101833282 A>G_LDELKDGKEEEIEYFNCNKEELPLF
2:220313376-220313376 G>A	1.0	4180	BREAST	-	-	-	-	SPEG	ENST00000396698,p.G395D|NM_005876,p.G499D|ENST00000312358,p.G499D|uc010fwg.3,p.G499D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fwg.3	nonsynonymous SNV	exon4	c.G1496A	p.G499D	ASDLELRFAQELGRIRRSTSREELV	ASDLELRFAQELDRIRRSTSREELV	8.0	8.0	unscreened	-	4180_2:220313376-220313376 G>A_ASDLELRFAQELDRIRRSTSREELV
15:82335968-82335968 C>T	0.0	4180	BREAST	-	-	-	-	MEX3B	uc002bgq.2,p.G415S|NM_032246,p.G415S|ENST00000329713,p.G415S	protein_coding	uc002bgq.2	nonsynonymous SNV	exon2	c.G1243A	p.G415S	SASSSSVVFPGGGASAPSNANLGLL	SASSSSVVFPGGSASAPSNANLGLL	4.0	10.0	unscreened	-	4180_15:82335968-82335968 C>T_SASSSSVVFPGGSASAPSNANLGLL
17:8026398-8026398 C>T	0.0	4180	BREAST	-	-	-	-	HES7	ENST00000577735,p.R22H|uc002gkc.3,p.R30H|uc002gkb.2,p.R30H|ENST00000317814,p.R30H|NM_032580,p.R30H|NM_001165967,p.R30H|ENST00000541682,p.R30H	protein_coding	uc002gkc.3	nonsynonymous SNV	exon2	c.G89A	p.R30H	PLVEKRRRDRINRSLEELRLLLLER	PLVEKRRRDRINHSLEELRLLLLER	2.0	2.0	unscreened	-	4180_17:8026398-8026398 C>T_PLVEKRRRDRINHSLEELRLLLLER
16:88501857-88501857 G>A	0.0	4180	BREAST	-	-	-	-	ZNF469	ENST00000565624,p.R2660H|NM_001127464,p.R2632H|uc002fku.2,p.R2632H|ENST00000437464,p.R2632H	protein_coding	uc002fku.2	nonsynonymous SNV	exon2	c.G7895A	p.R2632H	ILPVSADVISDGRGSRPSPAMASYA	ILPVSADVISDGHGSRPSPAMASYA	3.0	2.0	unscreened	-	4180_16:88501857-88501857 G>A_ILPVSADVISDGHGSRPSPAMASYA
3:16250150-16250150 C>T	0.0	4180	BREAST	-	-	-	-	GALNT15	ENST00000339732,p.A351V|ENST00000437509,p.A351V|uc003car.4,p.A351V|NM_054110,p.A351V|uc003caq.4,p.A84V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003car.4	nonsynonymous SNV	exon4	c.C1052T	p.A351V	FHWEPLPEHVRKALQSPISPIRSPV	FHWEPLPEHVRKVLQSPISPIRSPV	1.0	1.0	unscreened	-	4180_3:16250150-16250150 C>T_FHWEPLPEHVRKVLQSPISPIRSPV
6:27782915-27782915 C>T	0.0	4180	BREAST	-	-	-	-	HIST1H2BM	NM_003521,p.R32C|ENST00000359465,p.R32C|uc003njo.3,p.R32C	protein_coding	uc003njo.3	nonsynonymous SNV	exon1	c.C94T	p.R32C	NKAQKKDGKKRKRSRKESYSVYVYK	NKAQKKDGKKRKCSRKESYSVYVYK	5.0	3.0	unscreened	-	4180_6:27782915-27782915 C>T_NKAQKKDGKKRKCSRKESYSVYVYK
21:45953710-45953710 G>A	0.0	4180	BREAST	-	-	-	-	TSPEAR	uc002zfe.1,p.R134C|ENST00000397916,p.R66C|NM_144991,p.R134C|NM_001272037,p.R66C|ENST00000323084,p.R134C|uc010gpv.1,p.R66C	protein_coding	uc010gpv.1	nonsynonymous SNV	exon4	c.C196T	p.R66C	RLSPAQLHFLFLREDTAGAWQTRVS	RLSPAQLHFLFLCEDTAGAWQTRVS	1.0	1.0	unscreened	-	4180_21:45953710-45953710 G>A_RLSPAQLHFLFLCEDTAGAWQTRVS
2:61575515-61575515 T>C	0.0	4180	BREAST	-	-	-	-	USP34	NM_014709,p.E592G|ENST00000398571,p.E592G|uc002sbe.3,p.E592G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002sbe.3	nonsynonymous SNV	exon15	c.A1775G	p.E592G	GSSSGHSDGSSNEVNSSHASQSAGS	GSSSGHSDGSSNGVNSSHASQSAGS	8.0	1.0	unscreened	-	4180_2:61575515-61575515 T>C_GSSSGHSDGSSNGVNSSHASQSAGS
2:128747158-128747158 T>C	0.0	4180	BREAST	-	-	-	-	SAP130	uc002tpn.2,p.Q374R|ENST00000259234,p.Q587R	protein_coding	uc002tpn.2	nonsynonymous SNV	exon8	c.A1121G	p.Q374R	GLQPAPMGTQQPQPEGKTSVVLADG	GLQPAPMGTQQPRPEGKTSVVLADG	7.0	3.0	unscreened	-	4180_2:128747158-128747158 T>C_GLQPAPMGTQQPRPEGKTSVVLADG
16:20975916-20975916 T>C	0.0	4180	BREAST	-	-	-	-	DNAH3	uc010vbe.2,p.K3097R|uc010vbd.2,p.K532R|NM_017539,p.K3097R|ENST00000261383,p.K3097R	retained_intron, protein_coding, processed_transcript	uc010vbe.2	nonsynonymous SNV	exon53	c.A9290G	p.K3097R	HGQANKWIKNMEKANKLAVIKFSDS	HGQANKWIKNMERANKLAVIKFSDS	1.0	4.0	unscreened	-	4180_16:20975916-20975916 T>C_HGQANKWIKNMERANKLAVIKFSDS
17:18653309-18653309 ->T	0.0	4180	BREAST	-	-	-	-	FBXW10	ENST00000308799,p.I315fs|uc002gul.3,p.I315fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc002gul.3	frameshift insertion	exon3	c.946dupT	p.I315fs	LPSWPSSGVSGSIFFFPGMLDRHTL	LPSWPSSGVSGSIFFFSRNAG	4.0	3.0	unscreened	-	4180_17:18653309-18653309 ->T_LPSWPSSGVSGSIFFFSRNAG
1:28209480-28209480 ->C	0.0	4180	BREAST	-	-	-	-	THEMIS2	NM_001105556,p.A549fs|NM_001286115,p.A353fs|ENST00000328928,p.A420fs|NM_001286113,p.A420fs|uc010ofn.2,p.A353fs|uc010ofo.2,p.A420fs|uc001bpc.4,p.A549fs|ENST00000373921,p.A549fs	protein_coding, processed_transcript	uc010ofo.2	frameshift insertion	exon5	c.1259dupC	p.A420fs	YRLRKLPACEIQAPPPRPPKNQGLS	YRLRKLPACEIQAPPTQAP	9.0	9.0	unscreened	-	4180_1:28209480-28209480 ->C_YRLRKLPACEIQAPPTQAP
17:30695005-30695005 T>G	1.0	4180	BREAST	-	-	-	-	ZNF207	uc002hhh.4,p.L363W|NM_003457,p.L363W|uc002hhi.4,p.L348W|NM_001032293,p.L348W|NM_001098507,p.L379W|ENST00000341711,p.L280W|uc002hhk.1,p.L379W|ENST00000321233,p.L363W|uc002hhj.4,p.L379W|ENST00000577908,p.L379W|uc010csz.3,p.L382W|ENST00000394673,p.L348W|ENST00000394670,p.L379W|ENST00000342555,p.L382W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010csz.3	nonsynonymous SNV	exon11	c.T1145G	p.L382W	PATLTTTSATSKLIHPDEDISLEER	PATLTTTSATSKWIHPDEDISLEER	10.0	8.0	-	-	4180_17:30695005-30695005 T>G_PATLTTTSATSKWIHPDEDISLEER
3:49162732-49162732 C>T	0.0	4180	BREAST	-	-	-	-	LAMB2	uc003cwf.1,p.A892T|uc003cwe.3,p.A892T|NM_002292,p.A892T|ENST00000418109,p.A892T|ENST00000305544,p.A892T	retained_intron, protein_coding, processed_transcript	uc003cwf.1	nonsynonymous SNV	exon20	c.G2674A	p.A892T	NGHADECNTHTGACLGCRDHTGGEH	NGHADECNTHTGTCLGCRDHTGGEH	10.0	2.0	unscreened	-	4180_3:49162732-49162732 C>T_NGHADECNTHTGTCLGCRDHTGGEH
17:10441046-10441046 C>T	0.0	4180	BREAST	-	-	-	-	MYH2	ENST00000245503,p.G508D|uc010coi.3,p.G508D|uc010coj.3,p.G508D|NM_017534,p.G508D|NM_001100112,p.G508D|uc002gmp.4,p.G508D|ENST00000532183,p.G508D|ENST00000397183,p.G508D	protein_coding	uc010coj.3	nonsynonymous SNV	exon15	c.G1523A	p.G508D	MFVLEQEEYKKEGIEWTFIDFGMDL	MFVLEQEEYKKEDIEWTFIDFGMDL	1.0	2.0	unscreened	-	4180_17:10441046-10441046 C>T_MFVLEQEEYKKEDIEWTFIDFGMDL
X:54209586-54209586 C>T	0.0	4180	BREAST	-	-	-	-	FAM120C	uc004dta.2,p.G16R|NM_198456,p.G16R|ENST00000328235,p.G16R|uc004dsz.4,p.G16R|uc011moh.2,p.G16R|ENST00000375180,p.G16R|NM_017848,p.G16R|NM_001300788,p.G16R|ENST00000477084,p.G16R	protein_coding, processed_transcript	uc011moh.2	nonsynonymous SNV	exon1	c.G46A	p.G16R	QGFQEFLEKRCPGAVVPVDLLKLAR	QGFQEFLEKRCPRAVVPVDLLKLAR	7.0	6.0	unscreened	-	4180_X:54209586-54209586 C>T_QGFQEFLEKRCPRAVVPVDLLKLAR
16:57560006-57560006 T>C	0.0	4180	BREAST	-	-	-	-	CCDC102A	ENST00000258214,p.M207V|uc002elw.3,p.M207V|NM_033212,p.M207V	retained_intron, protein_coding	uc002elw.3	nonsynonymous SNV	exon3	c.A619G	p.M207V	QELELVESLLKSMPEESEDCWEARS	QELELVESLLKSVPEESEDCWEARS	6.0	10.0	unscreened	-	4180_16:57560006-57560006 T>C_QELELVESLLKSVPEESEDCWEARS
19:22499777-22499777 A>C	0.0	4180	BREAST	-	-	-	-	ZNF729	ENST00000357491,p.K1158N	protein_coding	ENST00000357491	nonsynonymous SNV	exon5	c.A3474C	p.K1158N	HLTRHKTIHTGEKPYKYKTIHTGEK	HLTRHKTIHTGENPYKYKTIHTGEK	1.0	4.0	unscreened	-	4180_19:22499777-22499777 A>C_HLTRHKTIHTGENPYKYKTIHTGEK
1:198718583-198718583 A>G	0.0	4180	BREAST	-	-	-	1	PTPRC	uc001gur.2,p.M993V|ENST00000367376,p.M991V|uc001gut.2,p.M832V|ENST00000352140,p.M943V|ENST00000348564,p.M832V|ENST00000594404,p.M830V|NM_080921,p.M832V|NM_002838,p.M993V|ENST00000442510,p.M993V	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc001gut.2	nonsynonymous SNV	exon25	c.A2494G	p.M832V	DYNRVPLKHELEMSKESEHDSDESS	DYNRVPLKHELEVSKESEHDSDESS	9.0	3.0	unscreened	-	4180_1:198718583-198718583 A>G_DYNRVPLKHELEVSKESEHDSDESS
6:32169151-32169151 C>-	0.0	4180	BREAST	-	-	-	-	NOTCH4	uc003obb.3,p.G1294fs|NM_004557,p.G1294fs|ENST00000375023,p.G1294fs	retained_intron, protein_coding, processed_transcript	uc003obb.3	frameshift deletion	exon22	c.3882delG	p.G1294fs	GDCRPEDGDPEWGPSLALLVVLSPP	GDCRPEDGDPEWGPPWPCWWY	5.0	4.0	unscreened	-	4180_6:32169151-32169151 C>-_GDCRPEDGDPEWGPPWPCWWY
X:128622918-128622918 T>-	0.0	4180	BREAST	-	-	-	-	SMARCA1	ENST00000371122,p.K698fs|NM_003069,p.K698fs|ENST00000371121,p.K686fs|uc011muk.1,p.K698fs|uc004eun.4,p.K698fs|uc004eup.4,p.K686fs|NM_001282875,p.K686fs|ENST00000371123,p.K686fs|NM_001282874,p.K698fs|uc011mul.1,p.K686fs	protein_coding, processed_transcript	uc011mul.1	frameshift deletion	exon15	c.2057delA	p.K686fs	DEDITTILERGEKKTAEMNERLQKM	DEDITTILERGERRLQR	7.0	9.0	unscreened	-	4180_X:128622918-128622918 T>-_DEDITTILERGERRLQR
1:159284287-159284287 G>T	0.0	4180	BREAST	-	-	-	-	OR10J3	ENST00000332217,p.H55N|NM_001004467,p.H55N|uc010piu.2,p.H55N	protein_coding	uc010piu.2	nonsynonymous SNV	exon1	c.C163A	p.H55N	NVIIMTIIRLDHHLHTPMYFFLCML	NVIIMTIIRLDHNLHTPMYFFLCML	1.0	7.0	unscreened	-	4180_1:159284287-159284287 G>T_NVIIMTIIRLDHNLHTPMYFFLCML
7:100647252-100647252 G>T	0.0	4180	BREAST	-	-	-	-	MUC12	uc003uxo.3,p.G4470C|ENST00000536621,p.G4470C|ENST00000379442,p.G4613C|NM_001164462,p.G4470C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.G13408T	p.G4470C	LVEEPTSYHSSPGSTATTHFPDSST	LVEEPTSYHSSPCSTATTHFPDSST	1.0	7.0	unscreened	-	4180_7:100647252-100647252 G>T_LVEEPTSYHSSPCSTATTHFPDSST
11:120008529-120008529 C>T	0.0	4180	BREAST	-	-	-	-	TRIM29	NM_012101,p.A71T|ENST00000532833,p.A71T|ENST00000529495,p.A71T|ENST00000529011,p.A71T|uc001pwz.3,p.A71T|ENST00000341846,p.A71T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001pwz.3	nonsynonymous SNV	exon1	c.G211A	p.A71T	ALKPGEGRSALFAGNEWRRPIIQFV	ALKPGEGRSALFTGNEWRRPIIQFV	3.0	2.0	unscreened	-	4180_11:120008529-120008529 C>T_ALKPGEGRSALFTGNEWRRPIIQFV
5:158630642-158630642 T>C	1.0	4180	BREAST	-	-	ID=COSM1065119;OCCURENCE=1(endometrium),1(large_intestine)	-	RNF145	ENST00000521606,p.K12R|uc011ddz.2,p.K12R|NM_001199381,p.K12R	retained_intron, protein_coding, processed_transcript	uc011ddz.2	nonsynonymous SNV	exon2	c.A35G	p.K12R	MAEVVFSKKKKKKKKNNMAAKEKL	MAEVVFSKKKKRKKKNNMAAKEKL	8.0	8.0	unscreened	-	4180_5:158630642-158630642 T>C_MAEVVFSKKKKRKKKNNMAAKEKL
4:83276492-83276492 A>G	1.0	4180	BREAST	-	-	-	-	HNRNPD	uc003hmm.1,p.Y355H|ENST00000541060,p.Y201H|ENST00000543098,p.Y303H|NM_031369,p.Y336H|NM_031370,p.Y355H|ENST00000352301,p.Y336H|NM_001003810,p.Y287H|uc003hmo.1,p.Y306H|uc003hmp.1,p.Y287H|ENST00000313899,p.Y355H|uc010ijr.1,p.Y336H|uc011cci.1,p.Y201H|ENST00000353341,p.Y306H|uc003hmn.1,p.Y336H|NM_002138,p.Y306H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cci.1	nonsynonymous SNV	exon6	c.T601C	p.Y201H	SRRGGHQNSYKPY	SRRGGHQNSYKPH	10.0	7.0	unscreened	-	4180_4:83276492-83276492 A>G_SRRGGHQNSYKPH
1:95357932-95357932 T>-	0.0	4180	BREAST	-	-	ID=COSM293684,COSM293683;OCCURENCE=1(stomach),2(large_intestine)	-	SLC44A3	uc010ott.3,p.A539fs|NM_001258343,p.A504fs|ENST00000467909,p.A524fs|uc010ots.3,p.A492fs|uc010otr.3,p.A536fs|uc001dqw.5,p.A524fs|ENST00000446120,p.A536fs|NM_152369,p.A524fs|NM_001258340,p.A571fs|ENST00000271227,p.A572fs|ENST00000527077,p.A504fs|uc001dqv.5,p.A572fs|ENST00000529450,p.A539fs|NM_001258341,p.A539fs|NM_001258342,p.A536fs|NM_001301079,p.A492fs|uc010otq.3,p.A504fs|uc009wds.4,p.A475fs|uc001dqx.5,p.A571fs|ENST00000532427,p.A492fs|NM_001114106,p.A572fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ott.3	frameshift deletion	exon14	c.1617delT	p.A539fs	AFQVWAVPLLLVAFFAYLVAHSFLS	AFQVWAVPLLLVAFLPT	6.0	2.0	unscreened	-	4180_1:95357932-95357932 T>-_AFQVWAVPLLLVAFLPT
11:94230120-94230120 A>-	0.0	4180	BREAST	-	-	-	-	ANKRD49	ENST00000540349,p.V87fs|ENST00000545130,p.V87fs|ENST00000534911,p.V87fs|ENST00000541144,p.V87fs|uc001pex.3,p.V87fs|ENST00000544253,p.V87fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc001pex.3	frameshift deletion	exon2	c.261delA	p.V87fs	SRLLLWAAEKNRVKKKITEGSVTVG	SRLLLWAAEKNRVKKKLQREV	7.0	10.0	unscreened	-	4180_11:94230120-94230120 A>-_SRLLLWAAEKNRVKKKLQREV
6:109768636-109768636 G>A	1.0	4180	BREAST	-	-	-	-	MICAL1	uc010kdr.3,p.A579V|uc011eaq.2,p.A684V|ENST00000358577,p.A579V|ENST00000368952,p.A684V|uc003ptk.3,p.A665V|NM_022765,p.A665V|uc003ptj.3,p.A665V|NM_001159291,p.A579V|ENST00000358807,p.A665V|NM_001286613,p.A684V	retained_intron, protein_coding, processed_transcript	uc011eaq.2	nonsynonymous SNV	exon16	c.C2051T	p.A684V	DAGGKKLRLEMEAETPSTEVPPDPE	DAGGKKLRLEMEVETPSTEVPPDPE	8.0	3.0	unscreened	-	4180_6:109768636-109768636 G>A_DAGGKKLRLEMEVETPSTEVPPDPE
5:156769991-156769991 C>T	0.0	4180	BREAST	-	-	-	-	FNDC9	NM_001001343,p.R185H|uc021ygp.1,p.R185H|uc003lwu.2,p.R185H|ENST00000312349,p.R185H	protein_coding	uc021ygp.1	nonsynonymous SNV	exon1	c.G554A	p.R185H	EDLQGLPLVEMPRKNSRDGAELDPE	EDLQGLPLVEMPHKNSRDGAELDPE	1.0	9.0	unscreened	-	4180_5:156769991-156769991 C>T_EDLQGLPLVEMPHKNSRDGAELDPE
21:31914028-31914028 C>T	0.0	4180	BREAST	-	-	-	-	KRTAP19-6	NM_181612,p.G42D|uc002yok.1,p.G42D|ENST00000334046,p.G42D	protein_coding	uc002yok.1	nonsynonymous SNV	exon1	c.G125A	p.G42D	YRYGSGYGGYRYGCCRPSCREGYGF	YRYGSGYGGYRYDCCRPSCREGYGF	1.0	9.0	unscreened	-	4180_21:31914028-31914028 C>T_YRYGSGYGGYRYDCCRPSCREGYGF
3:195510709-195510709 C>T	0.0	4180	BREAST	-	-	-	2	MUC4	ENST00000475231,p.S2581N|ENST00000479406,p.S2581N|ENST00000462323,p.S2581N|ENST00000478156,p.S2581N|ENST00000477756,p.S2581N|ENST00000480843,p.S2581N|ENST00000477086,p.S2581N|ENST00000466475,p.S2581N|ENST00000463781,p.S2581N|NM_018406,p.S2581N|uc021xjp.1,p.S2581N|ENST00000470451,p.S2581N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G7742A	p.S2581N	ASTGHATPLPVTSTSSASTGDTTPL	ASTGHATPLPVTNTSSASTGDTTPL	2.0	6.0	unscreened	-	4180_3:195510709-195510709 C>T_ASTGHATPLPVTNTSSASTGDTTPL
11:47587275-47587275 A>G	0.0	4180	BREAST	-	-	-	-	PTPMT1	NM_001143984,p.H34R|uc001nfs.4,p.H34R|uc001nfv.4,p.H34R|ENST00000534775,p.H34R|NM_175732,p.H34R|ENST00000326656,p.H34R|uc001nfu.4,p.H34R|ENST00000326674,p.H34R|uc009ylt.3,p.H34R|ENST00000426530,p.H34R	protein_coding, processed_transcript	uc009ylt.3	nonsynonymous SNV	exon1	c.A101G	p.H34R	YTLFRGKVPGRAHRDWYHRIDPTVL	YTLFRGKVPGRARRDWYHRIDPTVL	9.0	2.0	unscreened	-	4180_11:47587275-47587275 A>G_YTLFRGKVPGRARRDWYHRIDPTVL
X:104464080-104464080 C>T	0.0	4180	BREAST	-	-	-	-	TEX13A	ENST00000413579,p.D266N|NM_031274,p.D266N|NM_001291277,p.D266N	protein_coding	NM_031274	nonsynonymous SNV	exon5	c.G796A	p.D266N	QEKYTYWGQKEGDLRSVETATSYFS	QEKYTYWGQKEGNLRSVETATSYFS	1.0	6.0	unscreened	-	4180_X:104464080-104464080 C>T_QEKYTYWGQKEGNLRSVETATSYFS
X:135106632-135106632 T>A	0.0	4180	BREAST	-	-	-	-	SLC9A6	uc004ezk.3,p.L536M|ENST00000370695,p.L536M|NM_001177651,p.L484M|ENST00000370701,p.L484M|NM_001042537,p.L536M|uc004ezj.3,p.L504M|uc011mvx.2,p.L484M|ENST00000370698,p.L504M|NM_006359,p.L504M	protein_coding	uc011mvx.2	nonsynonymous SNV	exon13	c.T1450A	p.L484M	VFGGGTTAMLSCLHIRVGVDSDQEH	VFGGGTTAMLSCMHIRVGVDSDQEH	6.0	6.0	unscreened	-	4180_X:135106632-135106632 T>A_VFGGGTTAMLSCMHIRVGVDSDQEH
X:55650968-55650968 ->G	0.0	4180	BREAST	-	-	-	-	FOXR2	ENST00000339140,p.E275fs|NM_198451,p.E275fs|uc004duo.3,p.E275fs	protein_coding	uc004duo.3	frameshift insertion	exon1	c.825dupG	p.E275fs	ARPRSCLWKLTKEGHRRFWEETRVL	ARPRSCLWKLTKEGAPPLLGGDSCLSLCSKGENPRVHESARVVDLSL	1.0	9.0	unscreened	-	4180_X:55650968-55650968 ->G_ARPRSCLWKLTKEGAPPLLGGDSCLSLCSKGENPRVHESARVVDLSL
9:139925557-139925557 C>T	0.0	4180	BREAST	-	-	-	-	FUT7	ENST00000314412,p.A212T|NM_004479,p.A212T|uc004ckq.2,p.A212T	protein_coding	uc004ckq.2	nonsynonymous SNV	exon2	c.G634A	p.A212T	DVFGRANGRPLCASCLVPTVAQYRF	DVFGRANGRPLCTSCLVPTVAQYRF	4.0	4.0	unscreened	-	4180_9:139925557-139925557 C>T_DVFGRANGRPLCTSCLVPTVAQYRF
10:96818184-96818184 A>G	0.0	4180	BREAST	-	-	-	2	CYP2C8	ENST00000535898,p.Y141H|NM_001198854,p.Y141H|uc001kkb.3,p.Y243H|ENST00000539050,p.Y157H|uc010qoa.2,p.Y173H|uc021pwl.1,p.Y173H|uc010qob.2,p.Y157H|uc010qod.1,p.Y157H|NM_001198855,p.Y173H|NM_001198853,p.Y173H|ENST00000527420,p.Y243H|uc010qoc.2,p.Y141H|ENST00000371270,p.Y243H|NM_000770,p.Y243H	retained_intron, protein_coding, nonsense_mediated_decay	uc021pwl.1	nonsynonymous SNV	exon6	c.T517C	p.Y173H	NKVLKNVALTRSYIREKVKEHQASL	NKVLKNVALTRSHIREKVKEHQASL	1.0	1.0	unscreened	-	4180_10:96818184-96818184 A>G_NKVLKNVALTRSHIREKVKEHQASL
4:5527105-5527105 ->T	0.0	4180	BREAST	-	-	-	-	C4orf6	uc003gii.3,p.Q16fs|ENST00000195455,p.Q16fs|NM_005750,p.Q16fs	protein_coding, processed_transcript	uc003gii.3	frameshift insertion	exon1	c.49dupT	p.Q16fs	QKQIHKTHNSKNQFFTIFFFLSVEF	QKQIHKTHNSKNQFFYNFFFPVS	3.0	7.0	unscreened	-	4180_4:5527105-5527105 ->T_QKQIHKTHNSKNQFFYNFFFPVS
1:1471002-1471002 C>T	0.0	4180	BREAST	-	-	-	-	TMEM240	ENST00000378733,p.A114T|NM_001114748,p.A114T|uc009vkf.3,p.A114T|ENST00000425828,p.A114T	protein_coding	uc009vkf.3	nonsynonymous SNV	exon3	c.G340A	p.A114T	WFLVWMDGVLHCAVRAWRAGRRYDG	WFLVWMDGVLHCTVRAWRAGRRYDG	2.0	7.0	unscreened	-	4180_1:1471002-1471002 C>T_WFLVWMDGVLHCTVRAWRAGRRYDG
22:26829735-26829735 T>C	0.0	4180	BREAST	-	-	-	-	ASPHD2	uc003acg.2,p.S52P|ENST00000215906,p.S52P|NM_020437,p.S52P	protein_coding	uc003acg.2	nonsynonymous SNV	exon2	c.T154C	p.S52P	DGLRDCIATGIQSVRDCDTTAVITV	DGLRDCIATGIQPVRDCDTTAVITV	6.0	1.0	unscreened	-	4180_22:26829735-26829735 T>C_DGLRDCIATGIQPVRDCDTTAVITV
8:99234711-99234711 T>C	1.0	4180	BREAST	-	-	-	-	NIPAL2	uc003yil.1,p.Y185C|NM_024759,p.Y185C|ENST00000430223,p.Y185C|uc003yim.1,p.Y185C|ENST00000341166,p.Y185C	retained_intron, protein_coding, processed_transcript	uc003yim.1	nonsynonymous SNV	exon5	c.A554G	p.Y185C	VQYYLVGWQFLIYVILEILIFCILL	VQYYLVGWQFLICVILEILIFCILL	6.0	4.0	unscreened	-	4180_8:99234711-99234711 T>C_VQYYLVGWQFLICVILEILIFCILL
6:25691336-25691336 T>C	0.0	4180	BREAST	-	-	-	-	SCGN	ENST00000377961,p.M229T|uc010jpz.3,p.M120T|NM_006998,p.M229T|uc003nfb.3,p.M229T	protein_coding	uc010jpz.3	nonsynonymous SNV	exon8	c.T359C	p.M120T	LEGPEVDGFVKDMMELVQPSISGVD	LEGPEVDGFVKDTMELVQPSISGVD	1.0	1.0	unscreened	-	4180_6:25691336-25691336 T>C_LEGPEVDGFVKDTMELVQPSISGVD
17:41932675-41932675 T>C	0.0	4180	BREAST	-	-	-	-	CD300LG	ENST00000539718,p.W274R|uc010wil.2,p.W240R|NM_001168323,p.W240R|uc002iem.3,p.W274R|ENST00000293396,p.W189R|NM_001168322,p.W274R|NM_001168324,p.W189R|ENST00000317310,p.W274R|ENST00000377203,p.W240R|NM_145273,p.W274R|uc002iel.2,p.W189R|ENST00000586233,p.W189R|uc010czk.3,p.W274R|uc010czl.3,p.W189R	protein_coding, processed_transcript	uc010wil.2	nonsynonymous SNV	exon4	c.T718C	p.W240R	AGLIAFCSHLLLWRKEAQQATETQR	AGLIAFCSHLLLRRKEAQQATETQR	1.0	7.0	unscreened	-	4180_17:41932675-41932675 T>C_AGLIAFCSHLLLRRKEAQQATETQR
22:25289509-25289509 T>C	0.0	4180	BREAST	-	-	-	-	SGSM1	NM_001098497,p.C628R|ENST00000400359,p.C683R|uc003abg.2,p.C683R|uc003abi.1,p.C603R|NM_001039948,p.C683R|uc010guu.1,p.C628R|ENST00000400358,p.C628R	retained_intron, protein_coding, processed_transcript	uc010guu.1	nonsynonymous SNV	exon17	c.T1882C	p.C628R	RERESHAAALAKCSSGASLDSHLHR	RERESHAAALAKRSSGASLDSHLHR	1.0	10.0	unscreened	-	4180_22:25289509-25289509 T>C_RERESHAAALAKRSSGASLDSHLHR
13:108518658-108518658 C>T	0.0	4180	BREAST	-	-	-	-	FAM155A	ENST00000375915,p.R96Q|NM_001080396,p.R96Q|uc001vql.3,p.R96Q	protein_coding	uc001vql.3	nonsynonymous SNV	exon1	c.G287A	p.R96Q	QQQRQRQQQQQQRRQQEPSWPALLA	QQQRQRQQQQQQQRQQEPSWPALLA	1.0	1.0	unscreened	-	4180_13:108518658-108518658 C>T_QQQRQRQQQQQQQRQQEPSWPALLA
X:6995295-6995295 G>A	0.0	4180	BREAST	-	-	-	-	HDHD1	ENST00000486446,p.A159V|ENST00000540122,p.A159V|uc011mho.1,p.A159V|NM_001178135,p.A159V	protein_coding, processed_transcript	uc011mho.1	nonsynonymous SNV	exon3	c.C476T	p.A159V	HGKPDPDIFLACAKRFSPPPAMEKS	HGKPDPDIFLACVKRFSPPPAMEKS	7.0	3.0	unscreened	-	4180_X:6995295-6995295 G>A_HGKPDPDIFLACVKRFSPPPAMEKS
X:6995295-6995295 G>A	0.0	4180	BREAST	-	-	-	-	HDHD1	ENST00000412827,p.A116V|uc004crv.2,p.A159V|NM_012080,p.A159V|NM_001135565,p.A182V|ENST00000381077,p.A159V|uc011mhm.1,p.A182V|uc011mhn.1,p.A116V|NM_001178136,p.A116V|ENST00000424830,p.A182V	protein_coding, processed_transcript	uc011mhn.1	nonsynonymous SNV	exon3	c.C347T	p.A116V	HGKPDPDIFLACAKRFSPPPAMEKC	HGKPDPDIFLACVKRFSPPPAMEKC	7.0	3.0	unscreened	-	4180_X:6995295-6995295 G>A_HGKPDPDIFLACVKRFSPPPAMEKC
2:169851965-169851965 G>A	0.0	4180	BREAST	-	-	ID=COSM3314740,COSM3837346;OCCURENCE=1(breast)	-	ABCB11	uc002ueo.1,p.R169C|NM_003742,p.R169C|ENST00000263817,p.R169C	retained_intron, protein_coding, nonsense_mediated_decay	uc002ueo.1	nonsynonymous SNV	exon7	c.C505T	p.R169C	YIQICFWVIAAARQIQKMRKFYFRR	YIQICFWVIAAACQIQKMRKFYFRR	1.0	4.0	unscreened	-	4180_2:169851965-169851965 G>A_YIQICFWVIAAACQIQKMRKFYFRR
12:109510146-109510146 C>T	0.0	4180	BREAST	-	-	-	-	USP30	ENST00000257548,p.R206C|NM_032663,p.R206C|uc010sxi.2,p.R206C|uc001tnu.4,p.R175C|ENST00000392784,p.R175C|NM_001301175,p.R175C	retained_intron, protein_coding, processed_transcript	uc010sxi.2	nonsynonymous SNV	exon6	c.C616T	p.R206C	QQSEITPKQITCRTRGSPHPTSNHW	QQSEITPKQITCCTRGSPHPTSNHW	6.0	8.0	unscreened	-	4180_12:109510146-109510146 C>T_QQSEITPKQITCCTRGSPHPTSNHW
11:92564922-92564922 C>T	0.0	4180	BREAST	-	-	-	2	FAT3	NM_001008781,p.R3206W|ENST00000409404,p.R3206W|ENST00000298047,p.R3206W|ENST00000525166,p.R3056W|uc001pdj.4,p.R3206W	retained_intron, protein_coding, processed_transcript	uc001pdj.4	nonsynonymous SNV	exon13	c.C9616T	p.R3206W	DREQQSSYNISVRATDQSPGQSLSS	DREQQSSYNISVWATDQSPGQSLSS	1.0	2.0	unscreened	-	4180_11:92564922-92564922 C>T_DREQQSSYNISVWATDQSPGQSLSS
1:169493049-169493049 G>T	0.0	4180	BREAST	-	-	-	-	F5	ENST00000367796,p.P1966H|NM_000130,p.P1961H|uc001ggg.1,p.P1961H|ENST00000367797,p.P1961H	protein_coding, processed_transcript	uc001ggg.1	nonsynonymous SNV	exon20	c.C5882A	p.P1961H	SVEKLAAEFASKPWIQVDMQKEVII	SVEKLAAEFASKHWIQVDMQKEVII	4.0	5.0	unscreened	-	4180_1:169493049-169493049 G>T_SVEKLAAEFASKHWIQVDMQKEVII
7:100684199-100684199 T>A	0.0	4180	BREAST	-	-	-	-	MUC17	ENST00000379439,p.Y3168N|ENST00000306151,p.Y3168N|uc003uxp.1,p.Y3168N|NM_001040105,p.Y3168N	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.T9502A	p.Y3168N	TSTPSEGSTPLTYMPVSTMLVVSSE	TSTPSEGSTPLTNMPVSTMLVVSSE	1.0	2.0	unscreened	-	4180_7:100684199-100684199 T>A_TSTPSEGSTPLTNMPVSTMLVVSSE
17:40322125-40322125 C>T	0.0	4180	BREAST	-	-	-	-	KCNH4	ENST00000264661,p.A464T|ENST00000607371,p.A464T|NM_012285,p.A464T|uc002hzb.2,p.A464T	protein_coding	uc002hzb.2	nonsynonymous SNV	exon8	c.G1390A	p.A464T	EKIFSICTMLIGALMHAVVFGNVTA	EKIFSICTMLIGTLMHAVVFGNVTA	3.0	5.0	unscreened	-	4180_17:40322125-40322125 C>T_EKIFSICTMLIGTLMHAVVFGNVTA
2:107049425-107049425 A>C	0.0	4180	BREAST	-	-	-	2	RGPD3	ENST00000409886,p.L812R|NM_001144013,p.L812R|uc010ywi.1,p.L812R|ENST00000304514,p.L812R	retained_intron, protein_coding	uc010ywi.1	nonsynonymous SNV	exon17	c.T2435G	p.L812R	TPPRWAEDQNSLLKMIRQEVKAIKE	TPPRWAEDQNSLRKMIRQEVKAIKE	4.0	1.0	unscreened	-	4180_2:107049425-107049425 A>C_TPPRWAEDQNSLRKMIRQEVKAIKE
9:117124105-117124105 G>A	0.0	4180	BREAST	-	-	ID=COSM1104393;OCCURENCE=1(endometrium)	-	AKNA	ENST00000223791,p.P128L|ENST00000307564,p.P668L|uc004biv.1,p.P668L|ENST00000374088,p.P668L|uc010mve.2,p.P549L|uc004biq.3,p.P668L|uc004bis.3,p.P668L|ENST00000374075,p.P587L|uc004biu.1,p.P409L|ENST00000312033,p.P668L|NM_030767,p.P668L|uc004bio.3,p.P128L|uc004bir.3,p.P668L|uc004bip.3,p.P587L	protein_coding, processed_transcript	uc010mve.2	nonsynonymous SNV	exon8	c.C1646T	p.P549L	KEHIDQTQQEPEPPGSDSALDSTPA	KEHIDQTQQEPELPGSDSALDSTPA	8.0	2.0	unscreened	-	4180_9:117124105-117124105 G>A_KEHIDQTQQEPELPGSDSALDSTPA
11:72437678-72437678 G>-	0.0	4180	BREAST	-	-	ID=COSM1289634;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	ARAP1	NM_001040118,p.R166fs|ENST00000359373,p.R166fs|ENST00000393609,p.R166fs|uc001osv.3,p.R166fs|uc001osu.3,p.R166fs|ENST00000455638,p.R166fs	retained_intron, protein_coding, processed_transcript	uc001osv.3	frameshift deletion	exon3	c.496delC	p.R166fs	SVPPVPPRTGPPRLLVSLPTKEEES	SVPPVPPRTGPPACW	8.0	6.0	unscreened	-	4180_11:72437678-72437678 G>-_SVPPVPPRTGPPACW
19:47933477-47933477 G>A	0.0	4180	BREAST	-	-	-	-	SLC8A2	NM_015063,p.P879S|ENST00000542837,p.P635S|uc002pgx.3,p.P879S|uc010xyr.2,p.P342S|uc010xyq.2,p.P635S|ENST00000539381,p.P342S|ENST00000236877,p.P879S	retained_intron, protein_coding, processed_transcript	uc010xyr.2	nonsynonymous SNV	exon8	c.C1024T	p.P342S	FVGIAVLLYRRRPHIGGELGGPRGP	FVGIAVLLYRRRSHIGGELGGPRGP	1.0	1.0	unscreened	-	4180_19:47933477-47933477 G>A_FVGIAVLLYRRRSHIGGELGGPRGP
4:139144466-139144466 A>G	0.0	4180	BREAST	-	-	-	-	SLC7A11	uc021xrw.1,p.V178A|ENST00000280612,p.V178A|NM_014331,p.V178A	protein_coding, nonsense_mediated_decay	uc021xrw.1	nonsynonymous SNV	exon4	c.T533C	p.V178A	KLITAVGITVVMVLNSMSVSWSARI	KLITAVGITVVMALNSMSVSWSARI	4.0	8.0	unscreened	-	4180_4:139144466-139144466 A>G_KLITAVGITVVMALNSMSVSWSARI
11:27407004-27407004 G>A	0.0	4180	BREAST	-	-	-	-	LGR4	uc001mrk.4,p.A114V|ENST00000379214,p.A138V|NM_018490,p.A138V|uc001mrj.4,p.A138V|ENST00000389858,p.A114V	retained_intron, protein_coding, processed_transcript	uc001mrk.4	nonsynonymous SNV	exon4	c.C341T	p.A114V	RGLSALQSLRLDANHITSVPEDSFE	RGLSALQSLRLDVNHITSVPEDSFE	7.0	4.0	unscreened	-	4180_11:27407004-27407004 G>A_RGLSALQSLRLDVNHITSVPEDSFE
7:138363219-138363219 C>T	0.0	4180	BREAST	-	-	-	-	SVOPL	uc011kqh.2,p.R45H|ENST00000421622,p.R45H|ENST00000419765,p.R45H|NM_001139456,p.R45H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kqh.2	nonsynonymous SNV	exon2	c.G134A	p.R45H	TVEDAVETIGFGRFHIALFLIMGST	TVEDAVETIGFGHFHIALFLIMGST	2.0	2.0	unscreened	-	4180_7:138363219-138363219 C>T_TVEDAVETIGFGHFHIALFLIMGST
16:10274088-10274088 C>T	0.0	4180	BREAST	-	-	ID=COSM966903;OCCURENCE=1(endometrium)	1	GRIN2A	NM_001134408,p.A61T|uc010buk.3,p.A61T|ENST00000396575,p.A61T|ENST00000396573,p.A61T|ENST00000330684,p.A61T|uc002czr.4,p.A61T|NM_000833,p.A61T|uc002czo.4,p.A61T|NM_001134407,p.A61T|ENST00000562109,p.A61T|uc010uym.2,p.A61T|ENST00000404927,p.A61T	retained_intron, protein_coding, processed_transcript	uc010uym.2	nonsynonymous SNV	exon3	c.G181A	p.A61T	RELRTLWGPEQAAGLPLDVNVVALL	RELRTLWGPEQATGLPLDVNVVALL	5.0	1.0	unscreened	-	4180_16:10274088-10274088 C>T_RELRTLWGPEQATGLPLDVNVVALL
19:8842187-8842187 A>G	0.0	4180	BREAST	-	-	-	-	OR2Z1	ENST00000324060,p.H266R|uc010xkg.2,p.H266R|NM_001004699,p.H266R	protein_coding	uc010xkg.2	nonsynonymous SNV	exon1	c.A797G	p.H266R	AAVFMYMVPCAYHSPQQDNVVSLFY	AAVFMYMVPCAYRSPQQDNVVSLFY	1.0	1.0	unscreened	-	4180_19:8842187-8842187 A>G_AAVFMYMVPCAYRSPQQDNVVSLFY
1:245319746-245319746 T>C	0.0	4180	BREAST	-	-	-	-	KIF26B	uc010pyq.1,p.S76P|ENST00000407071,p.S76P|NM_018012,p.S76P|uc001ibf.1,p.S76P	retained_intron, protein_coding, processed_transcript	uc010pyq.1	nonsynonymous SNV	exon2	c.T226C	p.S76P	GSSGTPSPGSGTSSPSSFTGSPGPA	GSSGTPSPGSGTPSPSSFTGSPGPA	4.0	1.0	unscreened	-	4180_1:245319746-245319746 T>C_GSSGTPSPGSGTPSPSSFTGSPGPA
22:45809862-45809862 A>G	0.0	4180	BREAST	-	-	-	-	RIBC2	ENST00000538017,p.K27R|uc011aqs.3,p.K27R	retained_intron, protein_coding, processed_transcript	uc011aqs.3	nonsynonymous SNV	exon1	c.A80G	p.K27R	LAKRRHAELCRQKRVFNARNRIIGG	LAKRRHAELCRQRRVFNARNRIIGG	5.0	4.0	unscreened	-	4180_22:45809862-45809862 A>G_LAKRRHAELCRQRRVFNARNRIIGG
7:45123066-45123066 G>T	0.0	4180	BREAST	-	-	ID=COSM4162235;OCCURENCE=1(thyroid)	-	NACAD	NM_001146334,p.P905T|uc003tmt.3,p.P905T|ENST00000490531,p.P905T	retained_intron, protein_coding	uc003tmt.3	nonsynonymous SNV	exon2	c.C2713A	p.P905T	LSSAPKPVAAATPVSQQAEEGLTLP	LSSAPKPVAAATTVSQQAEEGLTLP	3.0	3.0	unscreened	-	4180_7:45123066-45123066 G>T_LSSAPKPVAAATTVSQQAEEGLTLP
19:52954742-52954742 C>T	0.0	4180	BREAST	-	-	-	-	ZNF534	ENST00000301085,p.R192W|NM_001291369,p.R149W|NM_001291368,p.R192W|ENST00000432303,p.R149W|uc002pzj.1,p.R192W|uc010epo.1,p.R149W	protein_coding	uc010epo.1	nonsynonymous SNV	exon3	c.C445T	p.R149W	AVQRWPPEQRLPRS	AVQRWPPEQRLPWS	1.0	2.0	unscreened	-	4180_19:52954742-52954742 C>T_AVQRWPPEQRLPWS
2:203922057-203922057 ->A	0.0	4180	BREAST	0.01	-	-	-	NBEAL1	ENST00000449802,p.S132fs|uc002uzt.3,p.S132fs|uc010zid.1,p.S81fs|NM_001114132,p.S132fs|uc002uzq.3,p.S132fs	retained_intron, protein_coding, processed_transcript	uc010zid.1	frameshift insertion	exon6	c.244dupA	p.S81fs	ITMTTLYIQQLKSKKKEKEMADQTC	ITMTTLYIQQLKSKKKREGNGRSDMY	8.0	3.0	unscreened	-	4180_2:203922057-203922057 ->A_ITMTTLYIQQLKSKKKREGNGRSDMY
2:95847471-95847471 A>G	0.0	4180	BREAST	-	-	-	-	ZNF2	ENST00000295210,p.I262V|ENST00000340539,p.I300V|ENST00000453539,p.I313V|uc010yue.2,p.I262V|ENST00000425369,p.I220V|uc010fhs.3,p.I220V|ENST00000398107,p.I258V	protein_coding	uc010yue.2	nonsynonymous SNV	exon4	c.A784G	p.I262V	CHQCGKAFSQKSILTRHQLIHTGRK	CHQCGKAFSQKSVLTRHQLIHTGRK	5.0	4.0	unscreened	-	4180_2:95847471-95847471 A>G_CHQCGKAFSQKSVLTRHQLIHTGRK
2:125405353-125405353 C>T	0.0	4180	BREAST	-	-	-	-	CNTNAP5	uc010flu.3,p.S632L|NM_130773,p.S631L|uc002tno.3,p.S631L|ENST00000431078,p.S631L	retained_intron, protein_coding, processed_transcript	uc010flu.3	nonsynonymous SNV	exon13	c.C1895T	p.S632L	VYCNITEDKIWTSVQHNNTELTRVR	VYCNITEDKIWTLVQHNNTELTRVR	1.0	2.0	unscreened	-	4180_2:125405353-125405353 C>T_VYCNITEDKIWTLVQHNNTELTRVR
14:35786462-35786462 A>G	1.0	4180	BREAST	-	-	-	-	PSMA6	ENST00000556506,p.Y199C	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000556506	nonsynonymous SNV	exon6	c.A596G	p.Y199C	FDWTFEQTVEDSYRSRD	FDWTFEQTVEDSCRSRD	10.0	9.0	-	-	4180_14:35786462-35786462 A>G_FDWTFEQTVEDSCRSRD
2:31457521-31457521 A>G	0.0	4180	BREAST	-	-	-	-	EHD3	ENST00000322054,p.R12G|uc010ymt.2,p.R12G|NM_014600,p.R12G|uc002rnu.3,p.R12G|ENST00000541626,p.R12G	protein_coding	uc010ymt.2	nonsynonymous SNV	exon1	c.A34G	p.R12G	MFSWLGTDDRRRKDPEVFQTVSEG	MFSWLGTDDRRGKDPEVFQTVSEG	5.0	1.0	unscreened	-	4180_2:31457521-31457521 A>G_MFSWLGTDDRRGKDPEVFQTVSEG
20:52601941-52601941 C>T	0.0	4180	BREAST	-	-	-	-	BCAS1	uc010gim.2,p.G290E|NM_003657,p.G342E|uc010zza.1,p.G100E|uc002xws.2,p.G342E|uc002xwt.2,p.G342E|ENST00000448484,p.G249E|ENST00000371435,p.G342E|ENST00000371440,p.G387E|ENST00000395961,p.G342E|uc010zzb.1,p.G290E|uc010gil.1,p.G342E|ENST00000434986,p.G100E	protein_coding	uc010zzb.1	nonsynonymous SNV	exon5	c.G869A	p.G290E	SQETQGAGKNSKGCNPSGHTQSVTT	SQETQGAGKNSKECNPSGHTQSVTT	2.0	10.0	unscreened	-	4180_20:52601941-52601941 C>T_SQETQGAGKNSKECNPSGHTQSVTT
7:8198251-8198251 T>-	1.0	4180	BREAST	-	-	ID=COSM269345;OCCURENCE=2(stomach),1(skin),3(large_intestine)	-	ICA1	uc003srq.4,p.N204fs|uc003srs.2,p.N204fs|NM_022307,p.N204fs|ENST00000407906,p.N204fs|uc010ktr.3,p.N204fs|ENST00000402384,p.N204fs|ENST00000396675,p.N204fs|uc003srr.4,p.N203fs|uc003srm.3,p.N204fs|NM_004968,p.N204fs|NM_001276478,p.N203fs|uc003sro.5,p.N204fs|ENST00000422063,p.N204fs|NM_001136020,p.N204fs|ENST00000406470,p.N204fs|ENST00000339809,p.N204fs|ENST00000265577,p.N203fs|uc003srn.5,p.N130fs|ENST00000401396,p.N192fs|ENST00000317367,p.N192fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ktr.3	frameshift deletion	exon6	c.611delA	p.N204fs	RKVQTQVRLAKKNFDKLKMDVCQKV	RKVQTQVRLAKKTLTN	8.0	5.0	unscreened	-	4180_7:8198251-8198251 T>-_RKVQTQVRLAKKTLTN
8:22548062-22548062 G>A	0.0	4180	BREAST	-	-	-	-	EGR3	uc011kzn.1,p.A325V|ENST00000522910,p.A325V|NM_001199881,p.A309V|NM_004430,p.A363V|ENST00000317216,p.A363V|NM_001199880,p.A325V|uc003xcm.1,p.A363V|uc011kzo.2,p.A309V	protein_coding, processed_transcript	uc011kzo.2	nonsynonymous SNV	exon2	c.C926T	p.A309V	HAKIHLKQKEKKAEKGGAPSASSAP	HAKIHLKQKEKKVEKGGAPSASSAP	4.0	10.0	unscreened	-	4180_8:22548062-22548062 G>A_HAKIHLKQKEKKVEKGGAPSASSAP
1:26227559-26227559 A>G	1.0	4180	BREAST	-	-	-	-	STMN1	NM_203401,p.V133A|NM_005563,p.V133A|ENST00000374291,p.V133A|uc001bkz.3,p.V133A|NM_203399,p.V133A|ENST00000357865,p.V133A|uc001blb.3,p.V126A|uc001bla.3,p.V133A|ENST00000399728,p.V133A|ENST00000455785,p.V133A|uc001blc.3,p.V133A	protein_coding, processed_transcript	uc001blc.3	nonsynonymous SNV	exon5	c.T398C	p.V133A	ERLREKDKHIEEVRKNKESKDPADE	ERLREKDKHIEEARKNKESKDPADE	10.0	2.0	unscreened	-	4180_1:26227559-26227559 A>G_ERLREKDKHIEEARKNKESKDPADE
21:39087279-39087279 C>T	0.0	4180	BREAST	-	-	ID=COSM362162;OCCURENCE=1(lung)	-	KCNJ6	ENST00000288309,p.G61R|NM_002240,p.G61R|ENST00000400482,p.G61R|uc011aej.2,p.G61R|uc002ywo.3,p.G61R	protein_coding	uc011aej.2	nonsynonymous SNV	exon3	c.G181A	p.G61R	TKRKIQRYVRKDGKCNVHHGNVRET	TKRKIQRYVRKDRKCNVHHGNVRET	1.0	1.0	unscreened	-	4180_21:39087279-39087279 C>T_TKRKIQRYVRKDRKCNVHHGNVRET
11:17631669-17631669 C>-	0.0	4180	BREAST	-	-	-	-	OTOG	ENST00000399397,p.P1547fs|NM_001277269,p.P1620fs|ENST00000399391,p.P1620fs|uc001mnh.1,p.P626fs|NM_001292063,p.P1608fs|uc031pzc.1,p.P1620fs|ENST00000342528,p.P626fs	retained_intron, protein_coding, processed_transcript	uc031pzc.1	frameshift deletion	exon35	c.4858delC	p.P1620fs	AGSPNITVSSRSPPAPRFPLMTKAV	AGSPNITVSSRSPLPLASRS	1.0	3.0	unscreened	-	4180_11:17631669-17631669 C>-_AGSPNITVSSRSPLPLASRS
11:65838059-65838061 GCA>-	1.0	4180	BREAST	-	-	-	-	PACS1	ENST00000320580,p.34_35del|uc001ogz.1,p.34_35del|uc001oha.2,p.34_35del|NM_018026,p.34_35del	retained_intron, protein_coding, nonsense_mediated_decay	uc001oha.2	nonframeshift deletion	exon1	c.102_104del	p.34_35del	GSGVAQSPQQPPPQQQQQQPPQQPT	GSGVAQSPQQPPPQQQQQPPQQPTP	7.0	10.0	unscreened	-	4180_11:65838059-65838061 GCA>-_GSGVAQSPQQPPPQQQQQPPQQPTP
12:112616759-112616759 T>C	0.0	4180	BREAST	-	-	-	-	HECTD4	NM_001109662,p.D3646G|ENST00000377560,p.D3608G|ENST00000430131,p.D3358G|uc021reb.1,p.D3646G|ENST00000550722,p.D3634G	retained_intron, protein_coding, processed_transcript	uc021reb.1	nonsynonymous SNV	exon64	c.A10937G	p.D3646G	STKRPITKPPAKDKAVLNSVSRTAL	STKRPITKPPAKGKAVLNSVSRTAL	6.0	2.0	unscreened	-	4180_12:112616759-112616759 T>C_STKRPITKPPAKGKAVLNSVSRTAL
12:11506626-11506626 C>A	0.0	4180	BREAST	-	-	-	-	PRB1	uc001qzw.1,p.K137N	retained_intron, protein_coding	uc001qzw.1	nonsynonymous SNV	exon3	c.G411T	p.K137N	GGNRPQGPPPPGKPQGPPPQGDKSR	GGNRPQGPPPPGNPQGPPPQGDKSR	1.0	10.0	unscreened	-	4180_12:11506626-11506626 C>A_GGNRPQGPPPPGNPQGPPPQGDKSR
X:135572368-135572368 G>T	0.0	4180	BREAST	-	-	-	-	BRS3	NM_001727,p.V171F|ENST00000370648,p.V171F|uc004ezv.1,p.V171F	protein_coding	uc004ezv.1	nonsynonymous SNV	exon2	c.G511T	p.V171F	NAILKTCVKAGCVWIVSMIFALPEA	NAILKTCVKAGCFWIVSMIFALPEA	1.0	5.0	unscreened	-	4180_X:135572368-135572368 G>T_NAILKTCVKAGCFWIVSMIFALPEA
19:56538932-56538932 G>A	0.0	4180	BREAST	-	-	-	-	NLRP5	ENST00000390649,p.G445R|uc002qmi.3,p.G426R|NM_153447,p.G445R|uc002qmj.3,p.G445R	protein_coding, nonsense_mediated_decay	uc002qmj.3	nonsynonymous SNV	exon7	c.G1333A	p.G445R	SGEQRIHLLLERGIGEHQKTQGLRA	SGEQRIHLLLERRIGEHQKTQGLRA	1.0	1.0	unscreened	-	4180_19:56538932-56538932 G>A_SGEQRIHLLLERRIGEHQKTQGLRA
7:1785518-1785518 T>C	0.0	4180	BREAST	-	-	-	-	ELFN1	uc031swk.1,p.M429T|ENST00000561626,p.M429T|ENST00000424383,p.M429T|NM_001128636,p.M429T|uc010ksg.2,p.M429T|ENST00000541472,p.M429T	protein_coding	uc031swk.1	nonsynonymous SNV	exon1	c.T1286C	p.M429T	HYIMTILGCLFGMVLVLGAVYYCLR	HYIMTILGCLFGTVLVLGAVYYCLR	4.0	5.0	unscreened	-	4180_7:1785518-1785518 T>C_HYIMTILGCLFGTVLVLGAVYYCLR
12:103306622-103306622 A>C	0.0	4180	BREAST	-	-	-	-	PAH	NM_000277,p.F39V|uc010swc.1,p.F39V|ENST00000553106,p.F39V|ENST00000546844,p.F39V|uc001tjq.1,p.F39V|ENST00000307000,p.F34V|ENST00000551337,p.F39V	retained_intron, protein_coding, processed_transcript	uc010swc.1	nonsynonymous SNV	exon2	c.T115G	p.F39V	DNCNQNGAISLIFSLKEEVGALAKV	DNCNQNGAISLIVSLKEEVGALAKV	1.0	5.0	unscreened	-	4180_12:103306622-103306622 A>C_DNCNQNGAISLIVSLKEEVGALAKV
12:124315191-124315191 C>G	0.0	4180	BREAST	-	-	-	-	DNAH10	uc001uft.4,p.T1379R|NM_207437,p.T1379R|ENST00000409039,p.T1379R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uft.4	nonsynonymous SNV	exon25	c.C4136G	p.T1379R	LENMFAMELHKHTDVLNEIVTAAIK	LENMFAMELHKHRDVLNEIVTAAIK	3.0	1.0	unscreened	-	4180_12:124315191-124315191 C>G_LENMFAMELHKHRDVLNEIVTAAIK
12:970297-970297 A>-	1.0	4180	BREAST	-	-	ID=COSM1163700,COSM1163699;OCCURENCE=1(pancreas),5(large_intestine),1(upper_aerodigestive_tract)	-	WNK1	uc001qip.4,p.E580fs|ENST00000340908,p.E173fs|NM_018979,p.E580fs|ENST00000535572,p.E580fs|uc001qir.4,p.E27fs|NM_213655,p.E580fs|uc031qfk.1,p.E580fs|uc001qio.4,p.E580fs|uc021qst.1,p.E580fs|ENST00000537687,p.E580fs|ENST00000530271,p.E580fs|ENST00000315939,p.E580fs|uc021qss.1,p.E580fs|NM_001184985,p.E580fs|NM_014823,p.E580fs	retained_intron, protein_coding, processed_transcript	uc031qfk.1	frameshift deletion	exon7	c.1739delA	p.E580fs	KREQRQLVREEQEKKKQEESSLKQQ	KREQRQLVREEQEKKSRKRAVSNSR	9.0	9.0	unscreened	-	4180_12:970297-970297 A>-_KREQRQLVREEQEKKSRKRAVSNSR
12:85518291-85518291 A>-	0.0	4180	BREAST	-	-	-	-	LRRIQ1	uc001tac.3,p.E1334fs|NM_001079910,p.E1334fs|ENST00000393217,p.E1334fs	retained_intron, protein_coding, nonsense_mediated_decay	uc001tac.3	frameshift deletion	exon17	c.4001delA	p.E1334fs	SLLRNHQNIEPSEKIMAAVVIQSYW	SLLRNHQNIEPSEKLWQLW	1.0	4.0	unscreened	-	4180_12:85518291-85518291 A>-_SLLRNHQNIEPSEKLWQLW
13:112722063-112722068 GGCGGG>-	0.0	4180	BREAST	-	-	-	-	SOX1	ENST00000330949,p.31_32del|NM_005986,p.31_32del|uc001vsb.1,p.31_32del	protein_coding	uc001vsb.1	nonframeshift deletion	exon1	c.91_96del	p.31_32del	PTNLSGPAGAGGGGGGGGGGGGGGG	PTNLSGPAGAGGGGGGGGGGGGGAK	1.0	10.0	unscreened	-	4180_13:112722063-112722068 GGCGGG>-_PTNLSGPAGAGGGGGGGGGGGGGAK
16:2043066-2043066 C>T	0.0	4180	BREAST	-	-	-	-	SYNGR3	uc002cod.3,p.A228V|NM_004209,p.A228V|ENST00000248121,p.A228V	retained_intron, protein_coding	uc002cod.3	nonsynonymous SNV	exon4	c.C683T	p.A228V	TLDTSPKGYQVPAY	TLDTSPKGYQVPVY	4.0	4.0	unscreened	-	4180_16:2043066-2043066 C>T_TLDTSPKGYQVPVY
3:7621013-7621013 T>-	0.0	4180	BREAST	-	-	ID=COSM1425351;OCCURENCE=2(large_intestine)	-	GRM7	uc003bqm.2,p.I807fs|ENST00000486284,p.I807fs|uc003bql.2,p.I807fs|NM_181874,p.I807fs|ENST00000467425,p.I807fs|ENST00000402647,p.I807fs|ENST00000389336,p.I807fs|ENST00000403881,p.I807fs|ENST00000389335,p.I807fs|ENST00000357716,p.I807fs|uc003bqn.1,p.I390fs|NM_000844,p.I807fs|ENST00000440923,p.I807fs|uc010hcg.2,p.I807fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hcg.2	frameshift deletion	exon8	c.2420delT	p.I807fs	YTTCIVWLAFIPIFFGTAQSAEKLY	YTTCIVWLAFIPIFLAPLNQRKSSTYKLPRLQSP	1.0	3.0	unscreened	-	4180_3:7621013-7621013 T>-_YTTCIVWLAFIPIFLAPLNQRKSSTYKLPRLQSP
19:55286713-55286713 A>G	0.0	4180	BREAST	-	-	-	-	KIR2DL1	NM_014218,p.D156G|ENST00000336077,p.D156G|ENST00000291633,p.D156G|uc010erz.1,p.D156G|uc002qhb.1,p.D156G|uc002qha.2,p.D66G	protein_coding	uc010erz.1	nonsynonymous SNV	exon4	c.A467G	p.D156G	NVTLSCSSRSSYDMYHLSREGEAHE	NVTLSCSSRSSYGMYHLSREGEAHE	2.0	5.0	unscreened	-	4180_19:55286713-55286713 A>G_NVTLSCSSRSSYGMYHLSREGEAHE
X:152801839-152801839 C>T	0.0	4180	BREAST	-	-	ID=COSM3939858,COSM3939857,COSM3939860,COSM3939859;OCCURENCE=1(oesophagus)	1	ATP2B3	ENST00000370186,p.A45V|uc004fhs.1,p.A45V|ENST00000349466,p.A45V|NM_001001344,p.A45V|ENST00000263519,p.A45V|ENST00000370181,p.A45V|NM_021949,p.A45V|ENST00000393842,p.A45V|ENST00000359149,p.A45V|uc004fht.1,p.A45V	protein_coding, processed_transcript	uc004fht.1	nonsynonymous SNV	exon1	c.C134T	p.A45V	ELRTLMELRGAEALQKIEEAYGDVS	ELRTLMELRGAEVLQKIEEAYGDVS	1.0	4.0	unscreened	-	4180_X:152801839-152801839 C>T_ELRTLMELRGAEVLQKIEEAYGDVS
19:18313357-18313357 T>C	0.0	4180	BREAST	-	-	-	-	RAB3A	NM_002866,p.Y65C|ENST00000481914,p.Y65C|ENST00000222256,p.Y65C|uc002nie.2,p.Y65C	retained_intron, protein_coding, processed_transcript	uc002nie.2	nonsynonymous SNV	exon2	c.A194G	p.Y65C	STVGIDFKVKTIYRNDKRIKLQIWD	STVGIDFKVKTICRNDKRIKLQIWD	5.0	2.0	unscreened	-	4180_19:18313357-18313357 T>C_STVGIDFKVKTICRNDKRIKLQIWD
14:96730965-96730965 G>A	0.0	4180	BREAST	-	-	-	-	BDKRB1	ENST00000216629,p.G316S|NM_000710,p.G316S|uc001yfh.3,p.G316S|uc021sbj.1,p.G316S	protein_coding, processed_transcript	uc021sbj.1	nonsynonymous SNV	exon1	c.G946A	p.G316S	NSSLNPVIYVFVGRLFRTKVWELYK	NSSLNPVIYVFVSRLFRTKVWELYK	3.0	6.0	unscreened	-	4180_14:96730965-96730965 G>A_NSSLNPVIYVFVSRLFRTKVWELYK
16:2161330-2161330 C>T	0.0	4180	BREAST	-	-	-	-	PKD1	NM_000296,p.A1280T|uc002cos.1,p.A1280T|ENST00000262304,p.A1280T|NM_001009944,p.A1280T|uc002cot.1,p.A1280T|ENST00000423118,p.A1280T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002cot.1	nonsynonymous SNV	exon15	c.G3838A	p.A1280T	QNCTVTVGAASPAGHLARSLHVLVF	QNCTVTVGAASPTGHLARSLHVLVF	7.0	5.0	unscreened	-	4180_16:2161330-2161330 C>T_QNCTVTVGAASPTGHLARSLHVLVF
X:153171693-153171693 G>-	0.0	4180	BREAST	-	-	-	-	AVPR2	uc004fjh.4,p.G245fs|ENST00000358927,p.G245fs|uc004fji.3,p.G245fs|NM_001146151,p.G245fs|ENST00000430697,p.G245fs|ENST00000337474,p.G245fs|ENST00000370049,p.G245fs|NM_000054,p.G245fs|uc004fjg.4,p.G34fs	protein_coding, nonsense_mediated_decay	uc004fji.3	frameshift deletion	exon2	c.733delG	p.G245fs	HASLVPGPSERPGGRRRGRRTGSPG	HASLVPGPSERPGGAAGDAGQAAPVREPTCQQLWPRL	3.0	1.0	unscreened	-	4180_X:153171693-153171693 G>-_HASLVPGPSERPGGAAGDAGQAAPVREPTCQQLWPRL
1:175048561-175048561 C>T	0.0	4180	BREAST	-	-	-	-	TNN	NM_022093,p.R168W|ENST00000239462,p.R168W|uc010pmx.1,p.R168W|uc001gkl.1,p.R168W	protein_coding	uc010pmx.1	nonsynonymous SNV	exon2	c.C502T	p.R168W	HCEEGREGPACERLACPGACSGHGR	HCEEGREGPACEWLACPGACSGHGR	4.0	1.0	unscreened	-	4180_1:175048561-175048561 C>T_HCEEGREGPACEWLACPGACSGHGR
7:93540117-93540117 G>A	0.0	4180	BREAST	-	-	-	-	GNGT1	ENST00000248572,p.E38K|NM_021955,p.E38K|ENST00000429473,p.E38K|uc003unc.1,p.E38K	protein_coding	uc003unc.1	nonsynonymous SNV	exon3	c.G112A	p.E38K	VTLERMLVSKCCEEVRDYVEERSGE	VTLERMLVSKCCKEVRDYVEERSGE	1.0	7.0	unscreened	-	4180_7:93540117-93540117 G>A_VTLERMLVSKCCKEVRDYVEERSGE
18:34297807-34297807 C>T	0.0	4180	BREAST	-	-	-	-	FHOD3	NM_025135,p.A674V|ENST00000359247,p.A657V|uc002kzt.1,p.A657V|uc002kzs.1,p.A674V|ENST00000257209,p.A674V|NM_001281740,p.A849V|ENST00000445677,p.A636V|uc021uiv.1,p.A849V|NM_001281739,p.A657V|uc010dmz.1,p.A389V|ENST00000590592,p.A849V	retained_intron, protein_coding, processed_transcript	uc021uiv.1	nonsynonymous SNV	exon19	c.C2546T	p.A849V	KLSRDRTTGLWPAGVQDAGVNGQCG	KLSRDRTTGLWPVGVQDAGVNGQCG	4.0	9.0	unscreened	-	4180_18:34297807-34297807 C>T_KLSRDRTTGLWPVGVQDAGVNGQCG
19:46289531-46289531 G>A	1.0	4180	BREAST	-	-	-	-	DMWD	uc002pdj.1,p.A408V|ENST00000377735,p.A408V|NM_004943,p.A408V|uc010eko.1,p.A93V|ENST00000270223,p.A408V	retained_intron, protein_coding, processed_transcript	uc010eko.1	nonsynonymous SNV	exon1	c.C278T	p.A93V	RSGEEEEEEPEAAGTGSAGGAPLSP	RSGEEEEEEPEAVGTGSAGGAPLSP	8.0	3.0	unscreened	-	4180_19:46289531-46289531 G>A_RSGEEEEEEPEAVGTGSAGGAPLSP
2:84771374-84771374 A>G	0.0	4180	BREAST	-	-	-	-	DNAH6	NM_001370,p.N227S|uc010fgb.3,p.N227S|ENST00000398278,p.N227S|ENST00000237449,p.N227S|ENST00000389394,p.N227S	retained_intron, protein_coding, processed_transcript	uc010fgb.3	nonsynonymous SNV	exon5	c.A680G	p.N227S	YDTYNLKVVSYENINKNDYYTISQR	YDTYNLKVVSYESINKNDYYTISQR	3.0	7.0	unscreened	-	4180_2:84771374-84771374 A>G_YDTYNLKVVSYESINKNDYYTISQR
10:76857614-76857614 C>T	0.0	4180	BREAST	-	-	-	-	DUSP13	ENST00000478873,p.R146Q|ENST00000605915,p.R32Q	protein_coding, processed_transcript	ENST00000605915	nonsynonymous SNV	exon3	c.G95A	p.R32Q	SWGMDSLQKQDLRRPKIHGAVQASP	SWGMDSLQKQDLQRPKIHGAVQASP	1.0	1.0	unscreened	-	4180_10:76857614-76857614 C>T_SWGMDSLQKQDLQRPKIHGAVQASP
10:76857614-76857614 C>T	0.0	4180	BREAST	-	-	-	-	DUSP13	uc001jww.3,p.R60Q|ENST00000372700,p.R60Q|NM_001007272,p.R60Q	protein_coding, processed_transcript	uc001jww.3	nonsynonymous SNV	exon2	c.G179A	p.R60Q	GDAMDSLQKQDLRRPKIHGAVQASP	GDAMDSLQKQDLQRPKIHGAVQASP	1.0	1.0	unscreened	-	4180_10:76857614-76857614 C>T_GDAMDSLQKQDLQRPKIHGAVQASP
10:76857614-76857614 C>T	0.0	4180	BREAST	-	-	-	-	DUSP13	ENST00000607131,p.R103Q|uc001jwt.3,p.R103Q|ENST00000491677,p.R139Q|ENST00000607487,p.R188Q|uc009xrs.3,p.R103Q|uc001jwu.3,p.R103Q|NM_001007273,p.R103Q	protein_coding, processed_transcript	uc009xrs.3	nonsynonymous SNV	exon5	c.G308A	p.R103Q	SHRMDSLQKQDLRRPKIHGAVQASP	SHRMDSLQKQDLQRPKIHGAVQASP	1.0	1.0	unscreened	-	4180_10:76857614-76857614 C>T_SHRMDSLQKQDLQRPKIHGAVQASP
2:27360738-27360738 T>C	0.0	4180	BREAST	-	-	-	-	PRR30	uc002rjb.2,p.S154G|uc021vfb.1,p.S154G|NM_178553,p.S154G|ENST00000335524,p.S154G	protein_coding	uc021vfb.1	nonsynonymous SNV	exon1	c.A460G	p.S154G	PCQSPSHPEELHSSTLTSPGPSPPS	PCQSPSHPEELHGSTLTSPGPSPPS	1.0	3.0	unscreened	-	4180_2:27360738-27360738 T>C_PCQSPSHPEELHGSTLTSPGPSPPS
19:49642956-49642956 C>A	0.0	4180	BREAST	-	-	-	-	PPFIA3	NM_003660,p.P703Q|uc002pms.3,p.P571Q|ENST00000602351,p.P703Q|ENST00000334186,p.P703Q|uc002pmr.3,p.P703Q	protein_coding	uc002pms.3	nonsynonymous SNV	exon14	c.C1712A	p.P571Q	KANHVPKEEAGAPRGEGPAIPGDTP	KANHVPKEEAGAQRGEGPAIPGDTP	5.0	4.0	unscreened	-	4180_19:49642956-49642956 C>A_KANHVPKEEAGAQRGEGPAIPGDTP
16:31092593-31092593 A>G	0.0	4180	BREAST	-	-	-	-	ZNF646	NM_014699,p.R1650G|ENST00000394979,p.R1650G|uc002eap.3,p.R1650G|uc021tgu.1,p.R1650G|ENST00000300850,p.R1650G	protein_coding	uc021tgu.1	nonsynonymous SNV	exon1	c.A4948G	p.R1650G	QGKAQEAPSETPRGPGESVERARGG	QGKAQEAPSETPGGPGESVERARGG	7.0	1.0	unscreened	-	4180_16:31092593-31092593 A>G_QGKAQEAPSETPGGPGESVERARGG
2:179456866-179456866 G>A	0.0	4180	BREAST	-	-	-	-	TTN	ENST00000591111,p.A18281V|NM_003319,p.A10857V|NM_133437,p.A11049V|NM_133378,p.A17354V|NM_001256850,p.A18281V|ENST00000342992,p.A17354V|ENST00000589042,p.A19922V|NM_133432,p.A10982V|uc031rqd.1,p.A18281V|ENST00000342175,p.A11049V|uc031rqc.1,p.A19922V|ENST00000460472,p.A10857V|uc021vsy.2,p.A17354V|NM_001267550,p.A19922V|uc021vsz.2,p.A11049V|uc021vta.2,p.A10982V|ENST00000359218,p.A10982V|uc021vtb.2,p.A10857V	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon252	c.C54842T	p.A18281V	TNYVVERRDVASAQWSPLSATSKKK	TNYVVERRDVASVQWSPLSATSKKK	2.0	2.0	unscreened	-	4180_2:179456866-179456866 G>A_TNYVVERRDVASVQWSPLSATSKKK
19:15083611-15083611 G>A	0.0	4180	BREAST	-	-	-	-	SLC1A6	ENST00000599636,p.A42V|uc010xod.2,p.A42V|ENST00000430939,p.A42V	retained_intron, protein_coding	uc010xod.2	nonsynonymous SNV	exon2	c.C125T	p.A42V	AAGKPAAESTAHAPAPADHDPRARA	AAGKPAAESTAHVPAPADHDPRARA	1.0	9.0	unscreened	-	4180_19:15083611-15083611 G>A_AAGKPAAESTAHVPAPADHDPRARA
19:44832633-44832633 A>T	0.0	4180	BREAST	-	-	-	-	ZNF112	ENST00000337401,p.S565R|NM_013380,p.S559R|uc002ozc.4,p.S559R|ENST00000536500,p.S582R|uc010ejj.3,p.S565R|uc010xwy.2,p.S582R|ENST00000354340,p.S559R|NM_001083335,p.S565R|uc010xwz.2,p.S564R	protein_coding, nonsense_mediated_decay	uc010xwz.2	nonsynonymous SNV	exon5	c.T1692A	p.S564R	YKCEECDKGFSRSSYLQAHQRVHTG	YKCEECDKGFSRRSYLQAHQRVHTG	5.0	4.0	unscreened	-	4180_19:44832633-44832633 A>T_YKCEECDKGFSRRSYLQAHQRVHTG
9:140328007-140328007 C>T	0.0	4180	BREAST	-	-	-	-	NOXA1	uc010nch.3,p.R282W|NM_001256067,p.R338W|uc004cmv.3,p.R338W|ENST00000341349,p.R338W|NM_001256068,p.R282W|ENST00000392815,p.R282W|NM_006647,p.R338W|uc004cmu.3,p.R338W	protein_coding	uc010nch.3	nonsynonymous SNV	exon9	c.C844T	p.R282W	LRARRGADLSSLRALLGQALPHQAQ	LRARRGADLSSLWALLGQALPHQAQ	7.0	4.0	unscreened	-	4180_9:140328007-140328007 C>T_LRARRGADLSSLWALLGQALPHQAQ
16:85682290-85682290 C>-	0.0	4180	BREAST	-	-	ID=COSM253012;OCCURENCE=4(large_intestine),1(ovary)	-	GSE1	NM_014615,p.T120fs|uc002fiy.4,p.T47fs|ENST00000411612,p.T16fs|ENST00000405402,p.T16fs|uc002fiw.3,p.T16fs|NM_001134473,p.T16fs|ENST00000253458,p.T120fs|ENST00000393243,p.T47fs|NM_001278184,p.T47fs|uc002fix.4,p.T120fs	retained_intron, protein_coding, processed_transcript	uc002fiy.4	frameshift deletion	exon2	c.140delC	p.T47fs	IIVPPGGHSVPSTPPVVTIAPTKTV	IIVPPGGHSVPSTPPW	7.0	5.0	unscreened	-	4180_16:85682290-85682290 C>-_IIVPPGGHSVPSTPPW
11:62293163-62293163 G>C	0.0	4180	BREAST	-	-	-	-	AHNAK	uc001ntl.3,p.A2909G|NM_001620,p.A2909G|ENST00000378024,p.A2909G	protein_coding, processed_transcript	uc001ntl.3	nonsynonymous SNV	exon5	c.C8726G	p.A2909G	MKMPKFSMPGFKAEGPEVDVNLPKA	MKMPKFSMPGFKGEGPEVDVNLPKA	9.0	3.0	unscreened	-	4180_11:62293163-62293163 G>C_MKMPKFSMPGFKGEGPEVDVNLPKA
11:71276851-71276851 A>G	0.0	4180	BREAST	-	rs201070584	-	-	KRTAP5-10	ENST00000376536,p.D73G	protein_coding	ENST00000376536	nonsynonymous SNV	exon1	c.A218G	p.D73G	CSSCGSCGGSKGDCGCGSCGGSKGG	CSSCGSCGGSKGGCGCGSCGGSKGG	1.0	10.0	unscreened	-	4180_11:71276851-71276851 A>G_CSSCGSCGGSKGGCGCGSCGGSKGG
11:71276851-71276851 A>G	0.0	4180	BREAST	-	rs201070584	-	-	KRTAP5-10	ENST00000398531,p.D73G|uc001oqt.1,p.D73G|NM_001012710,p.D73G	protein_coding	uc001oqt.1	nonsynonymous SNV	exon1	c.A218G	p.D73G	CSSCGSCGGSKGDCGSCGGSKGGCG	CSSCGSCGGSKGGCGSCGGSKGGCG	1.0	10.0	unscreened	-	4180_11:71276851-71276851 A>G_CSSCGSCGGSKGGCGSCGGSKGGCG
17:26653807-26653807 A>-	1.0	4180	BREAST	-	-	ID=COSM316020;OCCURENCE=12(large_intestine),1(lung)	-	TMEM97	ENST00000583381,p.R66fs|uc002hat.3,p.R173fs|ENST00000582384,p.R115fs|NM_014573,p.R173fs|ENST00000226230,p.R173fs|ENST00000336687,p.R66fs	protein_coding	uc002hat.3	frameshift deletion	exon3	c.519delA	p.R173fs	MLRSPYYKYEEKRKKK	MLRSPYYKYEEKRKKN	9.0	10.0	unscreened	-	4180_17:26653807-26653807 A>-_MLRSPYYKYEEKRKKN
10:85956401-85956402 AG>-	0.0	4180	BREAST	-	-	-	-	CDHR1	uc001kcv.3,p.R98fs|NM_001171971,p.R98fs|uc001kcw.3,p.R98fs|ENST00000332904,p.R98fs|NM_033100,p.R98fs|ENST00000372117,p.R98fs	protein_coding, processed_transcript	uc001kcw.3	frameshift deletion	exon3	c.292_293del	p.R98fs	TFGNITLVEELDREREDEIEAIISI	TFGNITLVEELDREGR	1.0	10.0	unscreened	-	4180_10:85956401-85956402 AG>-_TFGNITLVEELDREGR
5:158630642-158630642 T>C	1.0	4180	BREAST	-	-	ID=COSM1065119;OCCURENCE=1(endometrium),1(large_intestine)	-	RNF145	NM_001199382,p.K9R|ENST00000520638,p.K9R|uc011ddy.2,p.K9R	retained_intron, protein_coding, processed_transcript	uc011ddy.2	nonsynonymous SNV	exon2	c.A26G	p.K9R	MVFSKKKKKKKKNNMAAKEKL	MVFSKKKKRKKKNNMAAKEKL	8.0	8.0	unscreened	-	4180_5:158630642-158630642 T>C_MVFSKKKKRKKKNNMAAKEKL
X:37312610-37312610 ->C	0.0	4180	BREAST	-	-	ID=COSM1161821,COSM1181091;OCCURENCE=4(large_intestine),1(haematopoietic_and_lymphoid_tissue)	-	PRRG1	NM_001173490,p.P131fs|NM_001142395,p.P131fs|ENST00000466533,p.P131fs|ENST00000542554,p.P131fs|NM_000950,p.P131fs|ENST00000378628,p.P131fs|NM_001173489,p.P131fs|uc004ddn.3,p.P131fs|ENST00000449135,p.P131fs|ENST00000543642,p.P131fs|uc004ddo.3,p.P131fs|uc022buv.1,p.P131fs|uc022buu.1,p.P131fs	retained_intron, protein_coding, processed_transcript	uc022buv.1	frameshift insertion	exon4	c.394dupC	p.P131fs	HIPFPQHLNIITPPPPPDEVFDSSG	HIPFPQHLNIITPPPPTR	8.0	5.0	unscreened	-	4180_X:37312610-37312610 ->C_HIPFPQHLNIITPPPPTR
20:43837052-43837052 C>A	0.0	4180	BREAST	-	-	ID=COSM400596;OCCURENCE=1(kidney),1(urinary_tract),1(lung)	-	SEMG1	ENST00000244069,p.R312S|uc002xni.2,p.R372S|ENST00000372781,p.R372S|NM_003007,p.R372S|uc002xnj.2,p.R312S	protein_coding	uc002xnj.2	nonsynonymous SNV	exon3	c.C934A	p.R312S	YGENGVQKDVSQRSIYSQTEKLVAG	YGENGVQKDVSQSSIYSQTEKLVAG	1.0	5.0	unscreened	-	4180_20:43837052-43837052 C>A_YGENGVQKDVSQSSIYSQTEKLVAG
X:154490344-154490344 G>A	0.0	4180	BREAST	-	-	-	-	RAB39B	uc004fne.3,p.T129I|ENST00000369454,p.T129I|NM_171998,p.T129I	protein_coding	uc004fne.3	nonsynonymous SNV	exon2	c.C386T	p.T129I	VFVLVGHKCDLDTQRQVTRHEAEKL	VFVLVGHKCDLDIQRQVTRHEAEKL	3.0	2.0	unscreened	-	4180_X:154490344-154490344 G>A_VFVLVGHKCDLDIQRQVTRHEAEKL
1:120437501-120437501 T>C	0.0	4180	BREAST	-	-	-	-	ADAM30	ENST00000369400,p.T487A|NM_021794,p.T487A|uc001eij.3,p.T487A	protein_coding	uc001eij.3	nonsynonymous SNV	exon1	c.A1459G	p.T487A	SSCPNDVYKQDGTPCKYEGRCFRKG	SSCPNDVYKQDGAPCKYEGRCFRKG	1.0	7.0	unscreened	-	4180_1:120437501-120437501 T>C_SSCPNDVYKQDGAPCKYEGRCFRKG
1:32127982-32127982 C>T	0.0	4180	BREAST	-	-	-	-	COL16A1	uc001btj.1,p.A1010T|uc001btk.1,p.A1212T|ENST00000373672,p.A1212T|NM_001856,p.A1212T|ENST00000271069,p.A1212T	retained_intron, protein_coding, processed_transcript	uc001btk.1	nonsynonymous SNV	exon58	c.G3634A	p.A1212T	PGPPGPPGIQGPAGLDGLDGKDGKP	PGPPGPPGIQGPTGLDGLDGKDGKP	7.0	8.0	unscreened	-	4180_1:32127982-32127982 C>T_PGPPGPPGIQGPTGLDGLDGKDGKP
2:17698736-17698736 ->T	0.0	4180	BREAST	-	-	ID=COSM1263725;OCCURENCE=1(oesophagus),1(large_intestine)	-	RAD51AP2	uc002rcl.1,p.T316fs|NM_001099218,p.T316fs|ENST00000399080,p.T316fs|uc010exn.1,p.T307fs	protein_coding	uc010exn.1	frameshift insertion	exon5	c.919dupA	p.T307fs	DVKKQKLQNDKKTVEAENIFSKCYE	DVKKQKLQNDKKNCRSGKHFFQML	2.0	2.0	unscreened	-	4180_2:17698736-17698736 ->T_DVKKQKLQNDKKNCRSGKHFFQML
X:8764319-8764319 ->T	0.0	4180	BREAST	-	-	ID=COSM1469807;OCCURENCE=4(large_intestine)	-	FAM9A	ENST00000543214,p.Q160fs|uc022bsk.1,p.Q160fs|NM_001171186,p.Q160fs|ENST00000381003,p.Q160fs|uc004csg.3,p.Q160fs|NM_174951,p.Q160fs	protein_coding	uc022bsk.1	frameshift insertion	exon6	c.477dupA	p.Q160fs	TKNTIERALKKKQLKRQKRDYRHTR	TKNTIERALKKKTTKKAET	1.0	5.0	unscreened	-	4180_X:8764319-8764319 ->T_TKNTIERALKKKTTKKAET
19:57640609-57640609 C>A	0.0	4180	BREAST	-	-	-	-	USP29	NM_020903,p.P189H|uc021vci.1,p.P189H|ENST00000254181,p.P189H|ENST00000598197,p.P189H|uc002qny.3,p.P189H	protein_coding	uc021vci.1	nonsynonymous SNV	exon1	c.C566A	p.P189H	VQTNEDILKEDNPVPNKKYKTDSLK	VQTNEDILKEDNHVPNKKYKTDSLK	2.0	1.0	unscreened	-	4180_19:57640609-57640609 C>A_VQTNEDILKEDNHVPNKKYKTDSLK
X:67273508-67273508 G>A	0.0	4180	BREAST	0.0006	-	-	-	OPHN1	uc011mpg.2,p.A660V|NM_002547,p.A768V|ENST00000355520,p.A768V|uc004dww.4,p.A768V|ENST00000540071,p.A660V	protein_coding, processed_transcript	uc011mpg.2	nonsynonymous SNV	exon21	c.C1979T	p.A660V	KPEPKPDIVAGNAGEITSSVVASRT	KPEPKPDIVAGNVGEITSSVVASRT	6.0	5.0	unscreened	-	4180_X:67273508-67273508 G>A_KPEPKPDIVAGNVGEITSSVVASRT
19:55451314-55451314 C>T	0.0	4180	BREAST	-	-	-	-	NLRP7	ENST00000328092,p.M291I|ENST00000586379,p.M291I|uc010esl.3,p.M319I|uc010esk.3,p.M291I|NM_206828,p.M291I|ENST00000590030,p.M291I|ENST00000446217,p.M319I|ENST00000448121,p.M291I|ENST00000588756,p.M291I|NM_139176,p.M291I|NM_001127255,p.M291I|uc002qig.4,p.M291I|ENST00000340844,p.M291I|uc002qih.4,p.M291I|uc002qii.4,p.M291I|ENST00000592784,p.M291I	protein_coding, nonsense_mediated_decay	uc010esl.3	nonsynonymous SNV	exon6	c.G957A	p.M319I	VPVLLGSLLKRKMLPRAALLVTTRP	VPVLLGSLLKRKILPRAALLVTTRP	3.0	8.0	unscreened	-	4180_19:55451314-55451314 C>T_VPVLLGSLLKRKILPRAALLVTTRP
2:206562274-206562274 C>A	1.0	4180	BREAST	-	-	-	-	NRP2	ENST00000272849,p.P27Q|NM_018534,p.P27Q|NM_201267,p.P27Q|uc002vaw.3,p.P27Q|NM_003872,p.P27Q|NM_201264,p.P27Q|uc002vax.3,p.P27Q|ENST00000417189,p.P27Q|ENST00000540841,p.P27Q|ENST00000360409,p.P27Q|ENST00000450507,p.P27Q|uc010fud.3,p.P27Q|uc002vav.3,p.P27Q|ENST00000357118,p.P27Q|ENST00000412873,p.P27Q|ENST00000357785,p.P27Q|ENST00000355117,p.P27Q|uc002vat.3,p.P27Q|uc002vau.3,p.P27Q|NM_201279,p.P27Q|NM_201266,p.P27Q|uc002vay.3,p.P27Q|ENST00000540178,p.P27Q	retained_intron, protein_coding, processed_transcript	uc010fud.3	nonsynonymous SNV	exon3	c.C80A	p.P27Q	FSRHQVRGQPDPPCGGRLNSKDAGY	FSRHQVRGQPDPQCGGRLNSKDAGY	10.0	4.0	-	-	4180_2:206562274-206562274 C>A_FSRHQVRGQPDPQCGGRLNSKDAGY
17:47795051-47795051 C>T	0.0	4180	BREAST	-	-	-	-	FAM117A	ENST00000511743,p.R135Q|NM_030802,p.R245Q|uc002ipk.3,p.R245Q|ENST00000240364,p.R245Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ipk.3	nonsynonymous SNV	exon6	c.G734A	p.R245Q	ELLRILDIPDGHRAPAPPQSGSCDH	ELLRILDIPDGHQAPAPPQSGSCDH	6.0	2.0	unscreened	-	4180_17:47795051-47795051 C>T_ELLRILDIPDGHQAPAPPQSGSCDH
1:2433864-2433864 C>T	0.0	4180	BREAST	-	-	-	-	PLCH2	ENST00000288766,p.A280V|uc001ajj.1,p.A780V|uc001ajk.1,p.A780V|ENST00000449969,p.A965V	retained_intron, protein_coding, processed_transcript	uc001ajk.1	nonsynonymous SNV	exon18	c.C2339T	p.A780V	PGSGSPRGKAPAAVAEKSPVRVRPP	PGSGSPRGKAPAVVAEKSPVRVRPP	2.0	1.0	unscreened	-	4180_1:2433864-2433864 C>T_PGSGSPRGKAPAVVAEKSPVRVRPP
1:62676344-62676344 G>A	0.0	4180	BREAST	-	-	-	-	L1TD1	NM_019079,p.G633E|NM_001164835,p.G633E|ENST00000498273,p.G633E|uc001dae.4,p.G633E|uc021ooc.1,p.G633E	protein_coding	uc021ooc.1	nonsynonymous SNV	exon5	c.G1898A	p.G633E	VINSIREIKEEIGNLKSSHSGVLEI	VINSIREIKEEIENLKSSHSGVLEI	3.0	9.0	unscreened	-	4180_1:62676344-62676344 G>A_VINSIREIKEEIENLKSSHSGVLEI
11:75694431-75694431 A>-	0.0	4180	BREAST	-	-	-	-	UVRAG	ENST00000528420,p.K133fs|uc001oxc.3,p.K234fs|NM_003369,p.K234fs|ENST00000356136,p.K234fs|uc010rrw.2,p.K133fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rrw.2	frameshift deletion	exon8	c.397delA	p.K133fs	EKLRLTSTSNELKKKSECLQLKILV	EKLRLTSTSNELKKKVNACS	7.0	10.0	unscreened	-	4180_11:75694431-75694431 A>-_EKLRLTSTSNELKKKVNACS
8:103291420-103291420 A>T	1.0	4180	BREAST	-	-	-	1	UBR5	ENST00000521922,p.D2000E|NM_001282873,p.D2006E|ENST00000520539,p.D2006E|uc003ykr.2,p.D2006E|NM_015902,p.D2006E|ENST00000220959,p.D2006E|uc003yks.2,p.D2006E	retained_intron, protein_coding, processed_transcript	uc003yks.2	nonsynonymous SNV	exon43	c.T6018A	p.D2006E	NDDDTNQSATLNDKDDDSLPAETGQ	NDDDTNQSATLNEKDDDSLPAETGQ	9.0	7.0	unscreened	-	4180_8:103291420-103291420 A>T_NDDDTNQSATLNEKDDDSLPAETGQ
5:140866745-140866745 A>G	1.0	4180	BREAST	-	-	-	-	PCDHGC4	NM_032406,p.T669A|NM_018928,p.T669A|ENST00000306593,p.T669A|uc011dbb.2,p.T669A|uc003lky.2,p.T669A	protein_coding	uc011dbb.2	nonsynonymous SNV	exon1	c.A2005G	p.T669A	TSVTLLVSLEEDTHPVVPDLRESSA	TSVTLLVSLEEDAHPVVPDLRESSA	3.0	4.0	unscreened	-	4180_5:140866745-140866745 A>G_TSVTLLVSLEEDAHPVVPDLRESSA
15:75113499-75113499 G>A	0.0	4180	BREAST	-	-	-	-	LMAN1L	uc010bke.1,p.A319T|NM_021819,p.A331T|ENST00000309664,p.A331T|ENST00000379709,p.A319T|uc002ayt.1,p.A331T	retained_intron, protein_coding	uc010bke.1	nonsynonymous SNV	exon8	c.G955A	p.A319T	ILQALRGLSKQLAQAERQWKKQLGP	ILQALRGLSKQLTQAERQWKKQLGP	5.0	4.0	unscreened	-	4180_15:75113499-75113499 G>A_ILQALRGLSKQLTQAERQWKKQLGP
4:126371905-126371905 C>A	0.0	4180	BREAST	-	-	-	1	FAT4	NM_001291285,p.P3247H|NM_001291303,p.P3247H|ENST00000394329,p.P3245H|uc011cgp.2,p.P1543H|uc003ifi.1,p.P723H|uc003ifj.4,p.P3245H|ENST00000335110,p.P1543H|NM_024582,p.P3245H	retained_intron, protein_coding	uc011cgp.2	nonsynonymous SNV	exon9	c.C4628A	p.P1543H	VQSSDSDLFVIDPNTGVITTQGFLD	VQSSDSDLFVIDHNTGVITTQGFLD	3.0	4.0	unscreened	-	4180_4:126371905-126371905 C>A_VQSSDSDLFVIDHNTGVITTQGFLD
6:11104015-11104015 A>G	0.0	4180	BREAST	-	-	-	-	ERVFRD-1	ENST00000542862,p.F510S|uc003mzt.3,p.F510S|uc021ylp.1,p.F510S|NM_207582,p.F510S|ENST00000472091,p.F510S	protein_coding	uc021ylp.1	nonsynonymous SNV	exon1	c.T1529C	p.F510S	LFGPCLLNLITQFVSSRLQAIKLQT	LFGPCLLNLITQSVSSRLQAIKLQT	1.0	3.0	unscreened	-	4180_6:11104015-11104015 A>G_LFGPCLLNLITQSVSSRLQAIKLQT
15:74219904-74219906 GCC>-	0.0	4180	BREAST	-	-	-	-	LOXL1	ENST00000261921,p.260_261del|uc002awc.1,p.260_261del|NM_005576,p.260_261del|ENST00000566011,p.260_261del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002awc.1	nonframeshift deletion	exon1	c.780_782del	p.260_261del	PQGFYPAPERPYVPPPPPPPDGLDR	PQGFYPAPERPYVPPPPPPDGLDRR	7.0	9.0	unscreened	-	4180_15:74219904-74219906 GCC>-_PQGFYPAPERPYVPPPPPPDGLDRR
7:100028785-100028785 G>A	0.0	4180	BREAST	-	-	-	-	MEPCE	NM_019606,p.G382S|uc003uuw.3,p.G382S|ENST00000310512,p.G382S	retained_intron, protein_coding, processed_transcript	uc003uuw.3	nonsynonymous SNV	exon1	c.G1144A	p.G382S	SKSEAGARGGGQGSKEKGRGSWGGR	SKSEAGARGGGQSSKEKGRGSWGGR	9.0	1.0	unscreened	-	4180_7:100028785-100028785 G>A_SKSEAGARGGGQSSKEKGRGSWGGR
1:165398176-165398176 G>C	0.0	4180	BREAST	-	-	-	-	RXRG	NM_006917,p.S26C|ENST00000359842,p.S26C|uc001gda.3,p.S26C	protein_coding, processed_transcript	uc001gda.3	nonsynonymous SNV	exon2	c.C77G	p.S26C	GYGGSPGHTGSTSMSPSAALSTGKP	GYGGSPGHTGSTCMSPSAALSTGKP	3.0	3.0	unscreened	-	4180_1:165398176-165398176 G>C_GYGGSPGHTGSTCMSPSAALSTGKP
19:42083619-42083619 A>C	0.0	4180	BREAST	-	-	-	-	CEACAM21	uc002ore.4,p.E44D|NM_033543,p.E44D|uc002org.4,p.E44D|NM_001098506,p.E44D|ENST00000401445,p.E44D|ENST00000187608,p.E44D|ENST00000457737,p.E44D	protein_coding, processed_transcript, nonsense_mediated_decay	uc002org.4	nonsynonymous SNV	exon2	c.A132C	p.E44D	TTAWLFIASAPFEVAEGENVHLSVV	TTAWLFIASAPFDVAEGENVHLSVV	6.0	5.0	unscreened	-	4180_19:42083619-42083619 A>C_TTAWLFIASAPFDVAEGENVHLSVV
3:64085259-64085259 C>T	0.0	4180	BREAST	-	-	-	-	PRICKLE2	ENST00000295902,p.R668H|ENST00000564377,p.R724H|uc003dmf.3,p.R668H|NM_198859,p.R668H	protein_coding	uc003dmf.3	nonsynonymous SNV	exon8	c.G2003A	p.R668H	GQEGVRIQPMSERTRRRATSRDDNR	GQEGVRIQPMSEHTRRRATSRDDNR	3.0	9.0	unscreened	-	4180_3:64085259-64085259 C>T_GQEGVRIQPMSEHTRRRATSRDDNR
12:81746985-81746985 T>A	0.0	4180	BREAST	-	-	-	-	PPFIA2	uc031qih.1,p.D203V|ENST00000549325,p.D618V|uc031qis.1,p.D636V|uc031qiv.1,p.D537V|NM_001220477,p.D562V|ENST00000548586,p.D636V|uc031qir.1,p.D636V|NM_001220479,p.D203V|uc031qiw.1,p.D636V|ENST00000443686,p.D537V|ENST00000407050,p.D562V|uc031qiq.1,p.D618V|ENST00000553058,p.D217V|uc031qiy.1,p.D636V|uc031qil.1,p.D537V|NM_001220478,p.D537V|ENST00000333447,p.D618V|NM_001220474,p.D618V|uc031qii.1,p.D203V|NM_001220475,p.D636V|uc031qix.1,p.D636V|uc031qin.1,p.D618V|uc031qip.1,p.D636V|ENST00000550359,p.D483V|uc031qiu.1,p.D562V|uc031qio.1,p.D636V|NM_001220476,p.D636V|ENST00000549396,p.D636V|ENST00000550584,p.D636V|uc031qim.1,p.D636V|NM_001220473,p.D636V|uc031qik.1,p.D562V|ENST00000541570,p.D203V|ENST00000552948,p.D636V|NM_001282536,p.D483V|NM_003625,p.D636V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qiy.1	nonsynonymous SNV	exon15	c.A1907T	p.D636V	DDDDRETIFSSMDLLSPSGHSDAQT	DDDDRETIFSSMVLLSPSGHSDAQT	3.0	9.0	unscreened	-	4180_12:81746985-81746985 T>A_DDDDRETIFSSMVLLSPSGHSDAQT
8:146033389-146033389 C>T	1.0	4180	BREAST	-	-	-	-	ZNF517	ENST00000531720,p.A363V|NM_213605,p.A363V|uc010mgd.1,p.A269V|ENST00000359971,p.A363V|uc003zed.1,p.A363V|uc011llm.1,p.A269V|ENST00000533965,p.A363V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011llm.1	nonsynonymous SNV	exon3	c.C806T	p.A269V	QGALLGAAQRPQAGDPPHECPVCGR	QGALLGAAQRPQVGDPPHECPVCGR	6.0	6.0	unscreened	-	4180_8:146033389-146033389 C>T_QGALLGAAQRPQVGDPPHECPVCGR
2:228881180-228881180 T>G	0.0	4180	BREAST	-	-	-	-	SPHKAP	ENST00000344657,p.N1464H|NM_030623,p.N1464H|uc010zlx.1,p.N1464H|uc002vpp.2,p.N1464H|NM_001142644,p.N1464H|ENST00000392056,p.N1464H|uc002vpq.2,p.N1464H	retained_intron, protein_coding	uc010zlx.1	nonsynonymous SNV	exon7	c.A4390C	p.N1464H	LLEEAEGHSNDKNIPDVVRGGDTAV	LLEEAEGHSNDKHIPDVVRGGDTAV	1.0	1.0	unscreened	-	4180_2:228881180-228881180 T>G_LLEEAEGHSNDKHIPDVVRGGDTAV
X:70389133-70389133 C>T	0.0	4180	BREAST	-	-	-	-	NLGN3	uc011mps.2,p.T538I|NM_018977,p.T558I|uc004dzb.3,p.T558I|NM_001166660,p.T538I|ENST00000374051,p.T558I|ENST00000358741,p.T578I|uc004dzd.2,p.T578I|ENST00000536169,p.T538I|uc004dze.3,p.T376I|NM_181303,p.T578I|uc004dzc.3,p.T441I	protein_coding, processed_transcript	uc011mps.2	nonsynonymous SNV	exon6	c.C1613T	p.T538I	KTGDPNKPVPQDTKFIHTKANRFEE	KTGDPNKPVPQDIKFIHTKANRFEE	2.0	3.0	unscreened	-	4180_X:70389133-70389133 C>T_KTGDPNKPVPQDIKFIHTKANRFEE
14:74769602-74769602 C>A	0.0	4180	BREAST	-	-	-	-	ABCD4	ENST00000470637,p.G5V|ENST00000553486,p.G5V|NM_005050,p.G5V|ENST00000481935,p.G5V|uc001xpr.2,p.G5V|ENST00000356924,p.G5V|ENST00000557588,p.G5V|ENST00000460308,p.G5V|ENST00000554453,p.G5V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xpr.2	nonsynonymous SNV	exon1	c.G14T	p.G5V	MAVAGPAPGAGARPRLD	MAVAVPAPGAGARPRLD	7.0	4.0	unscreened	-	4180_14:74769602-74769602 C>A_MAVAVPAPGAGARPRLD
19:42492126-42492126 T>G	0.0	4180	BREAST	-	-	-	-	ATP1A3	uc010xwh.3,p.I120L|uc010xwf.2,p.I118L|ENST00000543770,p.I118L|uc002osh.4,p.I107L|ENST00000602133,p.I77L|ENST00000302102,p.I107L|uc010xwg.2,p.I77L|uc002osg.4,p.I107L|ENST00000473086,p.I77L|ENST00000441343,p.I107L|NM_152296,p.I107L|NM_001256214,p.I120L|NM_001256213,p.I118L|ENST00000545399,p.I120L	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc010xwh.3	nonsynonymous SNV	exon4	c.A358C	p.I120L	WIGAILCFLAYGIQAGTEDDPSGDN	WIGAILCFLAYGLQAGTEDDPSGDN	3.0	1.0	unscreened	-	4180_19:42492126-42492126 T>G_WIGAILCFLAYGLQAGTEDDPSGDN
8:101153845-101153845 T>-	0.0	4180	BREAST	-	-	-	-	FBXO43	uc003yjd.3,p.T213fs|uc010mbp.2,p.T213fs|uc003yje.3,p.T179fs|ENST00000428847,p.T213fs|NM_001029860,p.T213fs	retained_intron, protein_coding, nonsense_mediated_decay	uc010mbp.2	frameshift deletion	exon2	c.637delA	p.T213fs	NNFSPLVTSTLKTEEVTSCSQKLRL	NNFSPLVTSTLKQKK	3.0	1.0	unscreened	-	4180_8:101153845-101153845 T>-_NNFSPLVTSTLKQKK
10:134896309-134896309 C>T	0.0	4180	BREAST	-	-	-	-	LINC01168,LOC100128127	ENST00000607359,p.L441F|uc001llw.3,p.L441F	protein_coding	uc001llw.3	nonsynonymous SNV	exon7	c.C1321T	p.L441F	PSPCKPGCVCQGLALDAEAWPRHPG	PSPCKPGCVCQGFALDAEAWPRHPG	1.0	3.0	unscreened	-	4180_10:134896309-134896309 C>T_PSPCKPGCVCQGFALDAEAWPRHPG
9:140123075-140123075 A>G	0.0	4180	BREAST	-	-	-	-	RNF224	ENST00000445101,p.D3G|uc022bqe.1,p.D3G|NM_001190228,p.D3G	protein_coding	uc022bqe.1	nonsynonymous SNV	exon3	c.A8G	p.D3G	MQDAAAGGPPGLGGG	MQGAAAGGPPGLGGG	1.0	9.0	unscreened	-	4180_9:140123075-140123075 A>G_MQGAAAGGPPGLGGG
5:140769109-140769109 G>A	0.0	4180	BREAST	-	-	-	-	PCDHGB4	NM_032098,p.R553H|NM_003736,p.R553H|ENST00000519479,p.R553H|uc003lkc.2,p.R553H	protein_coding	uc003lkc.2	nonsynonymous SNV	exon1	c.G1658A	p.R553H	SANVSLRVLVDDRNDNAPRVLYPAL	SANVSLRVLVDDHNDNAPRVLYPAL	2.0	1.0	unscreened	-	4180_5:140769109-140769109 G>A_SANVSLRVLVDDHNDNAPRVLYPAL
X:13764946-13764946 A>-	0.0	4180	BREAST	-	-	ID=COSM1465931,COSM1465930;OCCURENCE=1(large_intestine),1(NS)	-	OFD1	ENST00000380550,p.A234fs|uc004cvv.4,p.A233fs|ENST00000340096,p.A234fs|NM_003611,p.A234fs|uc010neo.1,p.A20fs|uc004cvp.4,p.A234fs|ENST00000398395,p.A234fs|ENST00000380567,p.A94fs|uc010nen.3,p.A233fs|uc004cvq.4,p.A94fs|uc004cvu.4,p.A233fs	protein_coding, processed_transcript	uc010neo.1	frameshift deletion	exon2	c.60delA	p.A20fs	FKDTEIAKIKMEAKKKYEKELTMFQ	FKDTEIAKIKMEAKKSMKRS	7.0	7.0	unscreened	-	4180_X:13764946-13764946 A>-_FKDTEIAKIKMEAKKSMKRS
17:7847949-7847949 A>G	1.0	4180	BREAST	-	-	-	-	CNTROB	uc002gjr.3,p.N478S|ENST00000563694,p.N576S|uc002gjp.3,p.N576S|uc002gjq.3,p.N576S|ENST00000380262,p.N576S|ENST00000565740,p.N576S|NM_001037144,p.N576S|NM_053051,p.N576S	retained_intron, protein_coding, nonsense_mediated_decay	uc002gjr.3	nonsynonymous SNV	exon11	c.A1433G	p.N478S	ANQLLSTTLPPPNPPAPPAGPSSPG	ANQLLSTTLPPPSPPAPPAGPSSPG	8.0	8.0	unscreened	-	4180_17:7847949-7847949 A>G_ANQLLSTTLPPPSPPAPPAGPSSPG
12:76424723-76424723 G>A	0.0	4180	BREAST	-	-	-	-	PHLDA1	uc001sxu.3,p.P267S|ENST00000266671,p.P267S|ENST00000602540,p.P126S|uc021rax.1,p.P267S|NM_007350,p.P267S	protein_coding	uc021rax.1	nonsynonymous SNV	exon1	c.C799T	p.P267S	VMAEGKEIDFRCPQDQGWNAEITLQ	VMAEGKEIDFRCSQDQGWNAEITLQ	6.0	5.0	unscreened	-	4180_12:76424723-76424723 G>A_VMAEGKEIDFRCSQDQGWNAEITLQ
9:135946658-135946658 C>-	0.0	4180	BREAST	-	-	-	-	CEL	NM_001807,p.A593fs|ENST00000372080,p.A593fs|uc010naa.2,p.A593fs|ENST00000351304,p.A524fs	protein_coding	uc010naa.2	frameshift deletion	exon11	c.1778delC	p.A593fs	ETAPVPPTGDSGAPPVPPTGDSGAP	ETAPVPPTGDSGAPPCRPRVTPGPPPCRPRVTPGPPPCRPRVTPGPPPCRPRVTPGPPPCRPRVTPGPPPCRPRVTPGPPPCRPRVTPAPPPCRPRVTPGPPPCRPRVTPAPPPCRPRVTPGPPP	3.0	7.0	unscreened	-	4180_9:135946658-135946658 C>-_ETAPVPPTGDSGAPPCRPRVTPGPPPCRPRVTPGPPPCRPRVTPGPPPCRPRVTPGPPPCRPRVTPGPPPCRPRVTPGPPPCRPRVTPAPPPCRPRVTPGPPPCRPRVTPAPPPCRPRVTPGPPP
20:44540105-44540105 G>-	0.0	4180	BREAST	-	-	-	-	PLTP	ENST00000542937,p.P16fs|uc002xqm.2,p.P16fs	protein_coding	uc002xqm.2	frameshift deletion	exon1	c.47delC	p.P16fs	SGSDNSCDPTPPPGPLAMALFGALF	SGSDNSCDPTPPQARSPWPSSGPSS	9.0	8.0	unscreened	-	4180_20:44540105-44540105 G>-_SGSDNSCDPTPPQARSPWPSSGPSS
6:52054008-52054008 ->C	0.0	4180	BREAST	-	-	-	-	IL17A	ENST00000340057,p.C129fs|NM_002190,p.C129fs|uc003pak.1,p.C129fs	protein_coding	uc003pak.1	frameshift insertion	exon3	c.387dupC	p.C129fs	QEILVLRREPPHCPNSFRLEKILVS	QEILVLRREPPHCPQLLPAGEDTGVRGLHLCHPDCPPCGL	1.0	4.0	unscreened	-	4180_6:52054008-52054008 ->C_QEILVLRREPPHCPQLLPAGEDTGVRGLHLCHPDCPPCGL
X:73524123-73524123 G>A	0.0	4180	BREAST	-	-	-	-	ZCCHC13	NM_203303,p.A8T|uc004ebs.4,p.A8T|ENST00000339534,p.A8T	protein_coding	uc004ebs.4	nonsynonymous SNV	exon1	c.G22A	p.A8T	MSSKDFFACGHSGHWARGCP	MSSKDFFTCGHSGHWARGCP	1.0	9.0	unscreened	-	4180_X:73524123-73524123 G>A_MSSKDFFTCGHSGHWARGCP
8:13258992-13258992 C>T	0.0	4180	BREAST	-	-	-	-	DLC1	NM_024767,p.R387Q|NM_182643,p.R387Q|uc003wwm.2,p.R387Q|ENST00000316609,p.R387Q|ENST00000511869,p.R387Q|ENST00000276297,p.R387Q|uc003wwn.3,p.R387Q|uc011kxy.2,p.R387Q	retained_intron, protein_coding, processed_transcript	uc011kxy.2	nonsynonymous SNV	exon3	c.G1160A	p.R387Q	TSSSPSGTPTNLRRHVPDLESGSES	TSSSPSGTPTNLQRHVPDLESGSES	6.0	7.0	unscreened	-	4180_8:13258992-13258992 C>T_TSSSPSGTPTNLQRHVPDLESGSES
11:1298432-1298432 G>T	1.0	4180	BREAST	-	-	-	-	TOLLIP	ENST00000527938,p.P79T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000527938	nonsynonymous SNV	exon3	c.C235A	p.P79T	VAPAWCPWPCPRPP	VAPAWCPWPCPRTP	9.0	4.0	unscreened	-	4180_11:1298432-1298432 G>T_VAPAWCPWPCPRTP
22:21343966-21344002 GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA>-	0.0	4180	BREAST	-	-	-	1	LZTR1	NM_006767,p.216_217del|uc010gsr.1,p.87_88del|ENST00000215739,p.216_217del|ENST00000389355,p.197_198del|uc002ztn.3,p.175_176del|uc011ahy.2,p.197_198del|uc002zto.3,p.216_217del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ahy.2	nonframeshift deletion	exon6	c.589_594del	p.197_198del	TIGLQDRELTCWEEVAQSGEIPPSC	TIGLQDRELTCWVAQSGEIPPSCCN	8.0	5.0	unscreened	-	4180_22:21343966-21344002 GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA>-_TIGLQDRELTCWVAQSGEIPPSCCN
19:35790618-35790618 G>A	0.0	4180	BREAST	-	-	-	-	MAG	ENST00000537831,p.E168K|uc010eds.2,p.E168K|ENST00000361922,p.E193K|NM_002361,p.E193K|NM_001199216,p.E168K|uc002nyz.2,p.E193K|uc002nyx.2,p.E193K|ENST00000392213,p.E193K|NM_080600,p.E193K|uc002nyy.2,p.E193K	retained_intron, protein_coding, processed_transcript	uc010eds.2	nonsynonymous SNV	exon5	c.G502A	p.E168K	GEPAVLGRLREDEGTWVQVSLLHFV	GEPAVLGRLREDKGTWVQVSLLHFV	1.0	3.0	unscreened	-	4180_19:35790618-35790618 G>A_GEPAVLGRLREDKGTWVQVSLLHFV
12:57317645-57317645 T>C	0.0	4180	BREAST	-	-	-	-	SDR9C7	uc010sqw.2,p.Y305C|ENST00000293502,p.Y305C|NM_148897,p.Y305C	protein_coding	uc010sqw.2	nonsynonymous SNV	exon4	c.A914G	p.Y305C	LPTPVTDFILSRYLPRPADSV	LPTPVTDFILSRCLPRPADSV	1.0	9.0	unscreened	-	4180_12:57317645-57317645 T>C_LPTPVTDFILSRCLPRPADSV
20:57769140-57769140 G>-	0.0	4180	BREAST	-	-	-	-	ZNF831	uc002yan.3,p.L1022fs|ENST00000371030,p.L1022fs|NM_178457,p.L1022fs	protein_coding	uc002yan.3	frameshift deletion	exon1	c.3066delG	p.L1022fs	CSRPQDGRKGAQLGGDKGDRMATSR	CSRPQDGRKGAQLGGTRGTGWPLAGQQPGSCPSQHQGLPGRLPPPRPLQRVRHT	2.0	3.0	unscreened	-	4180_20:57769140-57769140 G>-_CSRPQDGRKGAQLGGTRGTGWPLAGQQPGSCPSQHQGLPGRLPPPRPLQRVRHT
1:201019533-201019533 A>G	0.0	4180	BREAST	-	-	-	-	CACNA1S	NM_000069,p.Y1409H|uc001gvv.3,p.Y1409H|ENST00000362061,p.Y1409H|ENST00000367338,p.Y1390H	protein_coding	uc001gvv.3	nonsynonymous SNV	exon34	c.T4225C	p.Y1409H	HHLDEFKAIWAEYDPEAKGRIKHLD	HHLDEFKAIWAEHDPEAKGRIKHLD	1.0	1.0	unscreened	-	4180_1:201019533-201019533 A>G_HHLDEFKAIWAEHDPEAKGRIKHLD
1:186037095-186037095 A>T	0.0	4180	BREAST	-	-	-	-	HMCN1	NM_031935,p.D2612V|ENST00000271588,p.D2612V|ENST00000367492,p.D2612V|uc001grq.1,p.D2612V	protein_coding, processed_transcript	uc001grq.1	nonsynonymous SNV	exon50	c.A7835T	p.D2612V	YSYPPATITWFKDGTPLESNRNIRI	YSYPPATITWFKVGTPLESNRNIRI	5.0	2.0	unscreened	-	4180_1:186037095-186037095 A>T_YSYPPATITWFKVGTPLESNRNIRI
20:33879792-33879792 T>C	0.0	4180	BREAST	-	-	-	-	FAM83C	uc021wck.1,p.S106G|NM_178468,p.S106G|ENST00000374408,p.S106G	protein_coding	uc021wck.1	nonsynonymous SNV	exon1	c.A316G	p.S106G	AQGQEASGPDRLSLLSEVTSGTYFP	AQGQEASGPDRLGLLSEVTSGTYFP	1.0	4.0	unscreened	-	4180_20:33879792-33879792 T>C_AQGQEASGPDRLGLLSEVTSGTYFP
1:179782935-179782935 G>A	0.0	4180	BREAST	-	-	-	-	FAM163A	uc001gnj.3,p.G39R|ENST00000341785,p.G39R|uc009wxj.3,p.G39R|uc009wxk.3,p.G39R|NM_173509,p.G39R	protein_coding	uc009wxk.3	nonsynonymous SNV	exon5	c.G115A	p.G39R	YCRLQYYCCKKSGTEVADEEEEREH	YCRLQYYCCKKSRTEVADEEEEREH	2.0	1.0	unscreened	-	4180_1:179782935-179782935 G>A_YCRLQYYCCKKSRTEVADEEEEREH
1:32127982-32127982 C>T	0.0	4180	BREAST	-	-	-	-	COL16A1	ENST00000440437,p.A69T	retained_intron, protein_coding, processed_transcript	ENST00000440437	nonsynonymous SNV	exon5	c.G205A	p.A69T	PGPPGPQAEKGPAGLDGLDGKDGKP	PGPPGPQAEKGPTGLDGLDGKDGKP	7.0	8.0	unscreened	-	4180_1:32127982-32127982 C>T_PGPPGPQAEKGPTGLDGLDGKDGKP
17:79090050-79090050 G>T	0.0	4180	BREAST	-	-	-	-	BAIAP2	ENST00000321300,p.G535V|uc002jzg.2,p.G535V|NM_017451,p.G535V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jzg.2	nonsynonymous SNV	exon15	c.G1604T	p.G535V	TVTNDRCDLSAQGPEGREHGDGSAR	TVTNDRCDLSAQVPEGREHGDGSAR	9.0	2.0	unscreened	-	4180_17:79090050-79090050 G>T_TVTNDRCDLSAQVPEGREHGDGSAR
2:128747158-128747158 T>C	0.0	4180	BREAST	-	-	-	-	SAP130	ENST00000357702,p.Q613R|ENST00000259235,p.Q613R|uc010fmd.2,p.Q613R|uc002tpp.2,p.Q613R|NM_024545,p.Q613R|NM_001145928,p.Q613R|uc002tpq.1,p.Q586R	protein_coding	uc010fmd.2	nonsynonymous SNV	exon13	c.A1838G	p.Q613R	GLQPAPMGTQQPQPEGKTSAVVLAD	GLQPAPMGTQQPRPEGKTSAVVLAD	7.0	3.0	unscreened	-	4180_2:128747158-128747158 T>C_GLQPAPMGTQQPRPEGKTSAVVLAD
1:6257785-6257785 T>-	0.0	4180	BREAST	-	-	ID=COSM179404;OCCURENCE=2(large_intestine),3(stomach),1(NS)	1	RPL22	NM_000983,p.K15fs|ENST00000234875,p.K15fs|uc001amd.3,p.K15fs|uc001ame.3,p.K15fs	retained_intron, protein_coding	uc001ame.3	frameshift deletion	exon2	c.44delA	p.K15fs	PVKKLVVKGGKKKKQVLKFTLDCTH	PVKKLVVKGGKKRSKF	10.0	6.0	unscreened	-	4180_1:6257785-6257785 T>-_PVKKLVVKGGKKRSKF
11:1578041-1578041 C>T	0.0	4180	BREAST	-	-	-	-	DUSP8	ENST00000397374,p.E529K|NM_004420,p.E529K|ENST00000331588,p.E529K|uc001lts.2,p.E529K	protein_coding, processed_transcript	uc001lts.2	nonsynonymous SNV	exon7	c.G1585A	p.E529K	TPSPDGPWCFSPEGAQGAGGVLFAP	TPSPDGPWCFSPKGAQGAGGVLFAP	7.0	6.0	unscreened	-	4180_11:1578041-1578041 C>T_TPSPDGPWCFSPKGAQGAGGVLFAP
17:56598135-56598135 G>C	1.0	4180	BREAST	-	-	-	-	SEPT4	NM_080416,p.T430S|NM_001256822,p.T302S|ENST00000457347,p.T464S|ENST00000583114,p.T302S|NM_004574,p.T449S|uc010wny.2,p.T441S|ENST00000580844,p.T350S|ENST00000317268,p.T449S|uc002iwk.2,p.T302S|uc010wnx.2,p.T464S|ENST00000412945,p.T441S|ENST00000393086,p.T430S|NM_001198713,p.T441S|uc010wnw.3,p.T302S|uc002iwo.2,p.T430S|uc002iwm.2,p.T449S|NM_001256782,p.T464S|uc002iwl.2,p.T302S|ENST00000317256,p.T430S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wny.2	nonsynonymous SNV	exon11	c.C1322G	p.T441S	PIPAVPPGTDPETEKLIREKDEELR	PIPAVPPGTDPESEKLIREKDEELR	7.0	2.0	unscreened	-	4180_17:56598135-56598135 G>C_PIPAVPPGTDPESEKLIREKDEELR
3:195481147-195481147 C>T	0.0	4180	BREAST	-	-	-	2	MUC4	uc003fvp.3,p.V802I|ENST00000463781,p.V5089I|uc003fvb.3,p.V605I|ENST00000346145,p.V853I|NM_004532,p.V853I|NM_018406,p.V5089I|uc021xjg.1,p.V569I|uc003fva.3,p.V569I|uc003fuz.3,p.V687I|uc021xji.1,p.V653I|ENST00000475231,p.V5037I|uc021xjn.1,p.V778I|ENST00000349607,p.V802I|NM_138297,p.V802I|uc021xjk.1,p.V830I|uc003fve.3,p.V605I|uc021xjp.1,p.V5089I|uc021xjm.1,p.V598I|uc003fvo.3,p.V853I|uc021xjj.1,p.V653I|uc021xjl.1,p.V569I|uc021xjo.1,p.V569I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon19	c.G15265A	p.V5089I	ACEEPCFPSVHCVPGKGCEACPPNL	ACEEPCFPSVHCIPGKGCEACPPNL	2.0	9.0	unscreened	-	4180_3:195481147-195481147 C>T_ACEEPCFPSVHCIPGKGCEACPPNL
1:228561650-228561650 C>-	0.0	4180	BREAST	-	-	-	-	OBSCN	uc009xez.2,p.P7441fs|uc001hsq.2,p.P8398fs|ENST00000570156,p.P8398fs|ENST00000422127,p.P7441fs|uc001hsr.1,p.P2070fs|NM_001098623,p.P7441fs|ENST00000366707,p.P5075fs|NM_001271223,p.P8398fs	retained_intron, protein_coding, processed_transcript	uc009xez.2	frameshift deletion	exon95	c.22321delC	p.P7441fs	LKGRPEGLEKEGPPRKKPGLASFRL	LKGRPEGLEKEGPPGRSQALLPSGSQV	5.0	9.0	unscreened	-	4180_1:228561650-228561650 C>-_LKGRPEGLEKEGPPGRSQALLPSGSQV
19:33167776-33167776 G>-	0.0	4180	BREAST	-	-	-	-	RGS9BP	ENST00000334176,p.G203fs|NM_207391,p.G203fs|uc002ntp.1,p.G203fs	protein_coding	uc002ntp.1	frameshift deletion	exon1	c.607delG	p.G203fs	AGPSSVVSLQERGGGCDPRKALAAI	AGPSSVVSLQERGGVATPGRPWPPSFSAPCCWRLWP	2.0	3.0	unscreened	-	4180_19:33167776-33167776 G>-_AGPSSVVSLQERGGVATPGRPWPPSFSAPCCWRLWP
1:3669096-3669096 T>G	0.0	4180	BREAST	-	-	-	-	CCDC27	uc001akv.2,p.D17E|ENST00000294600,p.D17E|NM_152492,p.D17E|ENST00000462521,p.D17E	protein_coding, nonsense_mediated_decay	uc001akv.2	nonsynonymous SNV	exon1	c.T51G	p.D17E	IFPSTPQARLKRDPREKPGLSSFRS	IFPSTPQARLKREPREKPGLSSFRS	1.0	2.0	unscreened	-	4180_1:3669096-3669096 T>G_IFPSTPQARLKREPREKPGLSSFRS
22:31672776-31672776 ->C	0.0	4180	BREAST	-	-	ID=COSM1723142;OCCURENCE=1(NS)	-	LIMK2	NM_001031801,p.A571fs|ENST00000340552,p.A571fs|uc003akj.3,p.A571fs|ENST00000406516,p.A514fs	retained_intron, protein_coding, processed_transcript	uc003akj.3	frameshift insertion	exon15	c.1712dupC	p.A571fs	AAICCRLEPESRAPPGAAGEGPGCA	AAICCRLEPESRAPPRGRRRGPGLRG	8.0	7.0	unscreened	-	4180_22:31672776-31672776 ->C_AAICCRLEPESRAPPRGRRRGPGLRG
1:233507928-233507928 G>-	0.0	4180	BREAST	-	-	ID=COSM3685946;OCCURENCE=1(large_intestine)	-	KIAA1804	ENST00000366623,p.R566fs|uc001hvs.1,p.R566fs	protein_coding	uc001hvs.1	frameshift deletion	exon6	c.1697delG	p.R566fs	LRAIQCELSALPRGLLC	LRAIQCELSALPRGSCV	7.0	5.0	unscreened	-	4180_1:233507928-233507928 G>-_LRAIQCELSALPRGSCV
X:23802147-23802147 A>-	1.0	4180	BREAST	-	-	ID=COSM293782;OCCURENCE=3(large_intestine)	-	SAT1	uc031tha.1,p.K88fs|ENST00000379253,p.K117fs|uc010nfv.3,p.K117fs|ENST00000379251,p.K147fs	protein_coding, processed_transcript	uc031tha.1	frameshift deletion	exon2	c.262delA	p.K88fs	RKNSQQVFKLLRKKKN	RKNSQQVFKLLRKKKI	10.0	10.0	unscreened	-	4180_X:23802147-23802147 A>-_RKNSQQVFKLLRKKKI
19:2251909-2251909 G>A	0.0	4180	BREAST	-	-	-	-	AMH	ENST00000221496,p.A546T|NM_000479,p.A546T|uc002lvh.2,p.A546T	retained_intron, protein_coding	uc002lvh.2	nonsynonymous SNV	exon5	c.G1636A	p.A546T	KLLISLSEERISAHHVPNMVATECG	KLLISLSEERISTHHVPNMVATECG	4.0	3.0	unscreened	-	4180_19:2251909-2251909 G>A_KLLISLSEERISTHHVPNMVATECG
19:4054323-4054323 C>T	1.0	4180	BREAST	-	-	-	-	ZBTB7A	uc002lzh.3,p.G303D|uc002lzi.3,p.G303D|NM_015898,p.G303D|ENST00000601588,p.G303D|ENST00000322357,p.G303D	protein_coding	uc002lzi.3	nonsynonymous SNV	exon2	c.G908A	p.G303D	GDSPGFLSGAAEGEDGDGPDVDGLA	GDSPGFLSGAAEDEDGDGPDVDGLA	8.0	9.0	unscreened	-	4180_19:4054323-4054323 C>T_GDSPGFLSGAAEDEDGDGPDVDGLA
12:55820959-55820959 A>-	0.0	4180	BREAST	-	-	ID=COSM1362886;OCCURENCE=52(large_intestine),2(upper_aerodigestive_tract),2(central_nervous_system)	-	OR6C76	ENST00000328314,p.K308fs|NM_001005183,p.K308fs|uc010spm.2,p.K308fs	protein_coding	uc010spm.2	frameshift deletion	exon1	c.922delA	p.K308fs	QAFKDVLRKISHKKKKH	QAFKDVLRKISHKKKNT	1.0	10.0	unscreened	-	4180_12:55820959-55820959 A>-_QAFKDVLRKISHKKKNT
14:103803169-103803169 A>G	1.0	4180	BREAST	-	-	-	-	EIF5	NM_183004,p.N104D|uc001ymt.4,p.N104D|ENST00000392715,p.N104D|NM_001969,p.N104D|uc001ymu.3,p.N104D|ENST00000558265,p.N104D|ENST00000216554,p.N104D|uc001ymq.4,p.N104D|ENST00000558316,p.N104D|ENST00000558506,p.N104D|uc001ymr.4,p.N104D	retained_intron, protein_coding, processed_transcript	uc001ymu.3	nonsynonymous SNV	exon3	c.A310G	p.N104D	FIKKFVLCPECENPETDLHVNPKKQ	FIKKFVLCPECEDPETDLHVNPKKQ	10.0	7.0	-	-	4180_14:103803169-103803169 A>G_FIKKFVLCPECEDPETDLHVNPKKQ
2:197531519-197531519 A>-	0.0	4180	BREAST	-	-	ID=COSM1404233;OCCURENCE=1(large_intestine)	-	CCDC150	uc002uto.1,p.Q280fs|ENST00000389175,p.Q280fs|NM_001080539,p.Q280fs|uc002utp.1,p.Q280fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002utp.1	frameshift deletion	exon7	c.839delA	p.Q280fs	SIQSAQELLAQEQKKKEELEIATSQ	SIQSAQELLAQEQKKKKSWRLLLHSSNLI	6.0	6.0	unscreened	-	4180_2:197531519-197531519 A>-_SIQSAQELLAQEQKKKKSWRLLLHSSNLI
1:45887400-45887400 A>G	0.0	4180	BREAST	-	-	-	-	TESK2	ENST00000451835,p.L114P	protein_coding, processed_transcript	ENST00000451835	nonsynonymous SNV	exon3	c.T341C	p.L114P	VQLMNRLSHPNILRCRSMNQNFSPN	VQLMNRLSHPNIPRCRSMNQNFSPN	4.0	6.0	unscreened	-	4180_1:45887400-45887400 A>G_VQLMNRLSHPNIPRCRSMNQNFSPN
5:109756369-109756369 T>C	0.0	4180	BREAST	-	-	-	-	TMEM232	uc011cvh.2,p.H629R|NM_001039763,p.H629R|ENST00000455884,p.H629R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cvh.2	nonsynonymous SNV	exon14	c.A1886G	p.H629R	QELKDKKLAEKNHFQEVMKKREEKL	QELKDKKLAEKNRFQEVMKKREEKL	3.0	4.0	unscreened	-	4180_5:109756369-109756369 T>C_QELKDKKLAEKNRFQEVMKKREEKL
7:100682978-100682978 C>A	0.0	4180	BREAST	-	-	-	-	MUC17	NM_001040105,p.L2761M|ENST00000306151,p.L2761M|ENST00000379439,p.L2761M|uc003uxp.1,p.L2761M	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.C8281A	p.L2761M	GSTPLTSILVSTLPVASSEASTVST	GSTPLTSILVSTMPVASSEASTVST	1.0	4.0	unscreened	-	4180_7:100682978-100682978 C>A_GSTPLTSILVSTMPVASSEASTVST
5:140772640-140772640 C>T	0.0	4180	BREAST	-	-	-	-	PCDHGA8	uc003lkb.4,p.A87V|NM_032088,p.A87V|uc003lkd.2,p.A87V|ENST00000398604,p.A87V|NM_014004,p.A87V	protein_coding	uc003lkd.2	nonsynonymous SNV	exon1	c.C260T	p.A87V	FALNPRSGSLITAGRIDREELCAQS	FALNPRSGSLITVGRIDREELCAQS	1.0	9.0	unscreened	-	4180_5:140772640-140772640 C>T_FALNPRSGSLITVGRIDREELCAQS
15:43815112-43815112 C>A	0.0	4180	BREAST	-	-	-	-	MAP1A	ENST00000399453,p.P481T|ENST00000382031,p.P719T|NM_002373,p.P481T|uc001zrt.3,p.P481T|ENST00000300231,p.P481T	protein_coding	uc001zrt.3	nonsynonymous SNV	exon4	c.C1441A	p.P481T	PEVRKTLYKAKVPGRVKIDRSRAIR	PEVRKTLYKAKVTGRVKIDRSRAIR	4.0	8.0	unscreened	-	4180_15:43815112-43815112 C>A_PEVRKTLYKAKVTGRVKIDRSRAIR
7:100677137-100677137 A>G	0.0	4180	BREAST	-	-	-	-	MUC17	ENST00000306151,p.S814G|ENST00000379439,p.S814G|uc003uxp.1,p.S814G|NM_001040105,p.S814G	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.A2440G	p.S814G	SEGSPLLTSIPVSITPVTSPEASTL	SEGSPLLTSIPVGITPVTSPEASTL	1.0	5.0	unscreened	-	4180_7:100677137-100677137 A>G_SEGSPLLTSIPVGITPVTSPEASTL
7:100679897-100679897 T>G	0.0	4180	BREAST	-	-	-	-	MUC17	ENST00000306151,p.S1734A|NM_001040105,p.S1734A|uc003uxp.1,p.S1734A|ENST00000379439,p.S1734A	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.T5200G	p.S1734A	TTSTEARSSPTTSEGTSMPNSTPSE	TTSTEARSSPTTAEGTSMPNSTPSE	1.0	4.0	unscreened	-	4180_7:100679897-100679897 T>G_TTSTEARSSPTTAEGTSMPNSTPSE
20:61951686-61951686 C>T	0.0	4180	BREAST	-	-	-	-	COL20A1	NM_020882,p.A1040V|ENST00000422202,p.A1047V|ENST00000435874,p.A1047V|ENST00000415763,p.A143V|ENST00000326996,p.A1040V|ENST00000358894,p.A1040V|uc011aau.2,p.A1040V|uc011aav.2,p.A861V|ENST00000455906,p.A48V	retained_intron, protein_coding, processed_transcript	uc011aav.2	nonsynonymous SNV	exon21	c.C2582T	p.A861V	LQMLQIVCSDTWADEDRCCELPASR	LQMLQIVCSDTWVDEDRCCELPASR	1.0	1.0	unscreened	-	4180_20:61951686-61951686 C>T_LQMLQIVCSDTWVDEDRCCELPASR
11:108544239-108544239 A>-	0.0	4180	BREAST	-	-	ID=COSM310507;OCCURENCE=1(lung)	1	DDX10	NM_004398,p.K78fs|ENST00000526794,p.K78fs|uc001pkl.1,p.K78fs|uc001pkm.3,p.K78fs|ENST00000322536,p.K78fs	retained_intron, protein_coding, processed_transcript	uc001pkm.3	frameshift deletion	exon2	c.232delA	p.K78fs	NEITRFSDFPLSKKTLKGLQEAQYR	NEITRFSDFPLSKKH	9.0	1.0	unscreened	-	4180_11:108544239-108544239 A>-_NEITRFSDFPLSKKH
1:71538198-71538198 A>T	1.0	4180	BREAST	-	-	-	-	ZRANB2	NM_005455,p.V112D|uc001dft.3,p.V112D|NM_203350,p.V112D|ENST00000254821,p.V112D|ENST00000370920,p.V112D|uc001dfs.3,p.V112D	protein_coding, processed_transcript	uc001dft.3	nonsynonymous SNV	exon5	c.T335A	p.V112D	TGYGGGFNERENVEYIEREESDGEY	TGYGGGFNERENDEYIEREESDGEY	9.0	6.0	unscreened	-	4180_1:71538198-71538198 A>T_TGYGGGFNERENDEYIEREESDGEY
7:49815404-49815404 G>A	0.0	4180	BREAST	-	-	-	-	VWC2	NM_198570,p.A125T|ENST00000340652,p.A125T|uc003tot.1,p.A125T	protein_coding	uc003tot.1	nonsynonymous SNV	exon2	c.G373A	p.A125T	PRGDTPQAEALAAAAQDAIGPELAP	PRGDTPQAEALATAAQDAIGPELAP	1.0	2.0	unscreened	-	4180_7:49815404-49815404 G>A_PRGDTPQAEALATAAQDAIGPELAP
2:227661663-227661663 ->C	1.0	4180	BREAST	-	-	-	-	IRS1	ENST00000305123,p.H598fs|NM_005544,p.H598fs|uc021vxn.1,p.H598fs|uc002voh.4,p.H598fs	protein_coding, processed_transcript	uc021vxn.1	frameshift insertion	exon1	c.1791dupG	p.H598fs	GLEMHPLERRGGHHRPDSSTLHTDD	GLEMHPLERRGGAPPPRQLHPPHG	5.0	8.0	unscreened	-	4180_2:227661663-227661663 ->C_GLEMHPLERRGGAPPPRQLHPPHG
19:24116196-24116196 G>T	0.0	4180	BREAST	-	-	-	-	ZNF726	ENST00000594466,p.K426N|uc021urw.1,p.K426N|NM_001244038,p.K426N|ENST00000322487,p.K426N	protein_coding	uc021urw.1	nonsynonymous SNV	exon4	c.G1278T	p.K426N	KHKIIHTGEKPYKCEECGKAFIWSS	KHKIIHTGEKPYNCEECGKAFIWSS	4.0	3.0	unscreened	-	4180_19:24116196-24116196 G>T_KHKIIHTGEKPYNCEECGKAFIWSS
19:39804988-39804988 A>G	0.0	4180	BREAST	-	-	-	-	LRFN1	NM_020862,p.V330A|uc002okw.2,p.V330A|ENST00000248668,p.V330A	protein_coding	uc002okw.2	nonsynonymous SNV	exon1	c.T989C	p.V330A	SLRCRAVGDPEPVVHWVAPDGRLLG	SLRCRAVGDPEPAVHWVAPDGRLLG	4.0	8.0	unscreened	-	4180_19:39804988-39804988 A>G_SLRCRAVGDPEPAVHWVAPDGRLLG
11:1093004-1093004 C>A	0.0	4180	BREAST	-	-	-	-	MUC2	ENST00000441003,p.P1608H	protein_coding	ENST00000441003	nonsynonymous SNV	exon30	c.C4823A	p.P1608H	PTPTGTQTPTTTPITTTTTVTPTPT	PTPTGTQTPTTTHITTTTTVTPTPT	1.0	4.0	unscreened	-	4180_11:1093004-1093004 C>A_PTPTGTQTPTTTHITTTTTVTPTPT
19:43092972-43092972 G>A	0.0	4180	BREAST	-	-	-	-	CEACAM8	ENST00000244336,p.R308C|NM_001816,p.R308C|uc002oud.2,p.R308C	protein_coding	uc002oud.2	nonsynonymous SNV	exon4	c.C922T	p.R308C	SYACHTTNSATGRNRTTVRMITVSD	SYACHTTNSATGCNRTTVRMITVSD	1.0	8.0	unscreened	-	4180_19:43092972-43092972 G>A_SYACHTTNSATGCNRTTVRMITVSD
5:39134985-39134985 T>A	0.0	4180	BREAST	-	-	-	-	FYB	uc003jls.3,p.K549N|ENST00000512982,p.K549N|uc011cpl.2,p.K559N|NM_001243093,p.K559N|ENST00000540520,p.K559N|ENST00000351578,p.K549N|ENST00000515010,p.K549N|uc003jlu.3,p.K549N|NM_199335,p.K549N|ENST00000505428,p.K549N|uc003jlt.3,p.K549N|NM_001465,p.K549N	protein_coding, processed_transcript	uc011cpl.2	nonsynonymous SNV	exon8	c.A1677T	p.K559N	IEIIRITDNPEGKWLGRTARGSYGY	IEIIRITDNPEGNWLGRTARGSYGY	9.0	7.0	unscreened	-	4180_5:39134985-39134985 T>A_IEIIRITDNPEGNWLGRTARGSYGY
5:140474590-140474590 A>-	0.0	4180	BREAST	-	-	-	-	PCDHB2	ENST00000194155,p.G72fs|NM_018936,p.G72fs|uc003lil.3,p.G72fs	protein_coding	uc003lil.3	frameshift deletion	exon1	c.216delA	p.G72fs	ELAVRGARVVSKGKKMHLQFDRQTG	ELAVRGARVVSKGKKCICSSIGRPGICC	7.0	3.0	unscreened	-	4180_5:140474590-140474590 A>-_ELAVRGARVVSKGKKCICSSIGRPGICC
16:10867203-10867203 A>-	0.0	4180	BREAST	-	-	ID=COSM1375771;OCCURENCE=12(large_intestine),1(pancreas)	-	TVP23A	NM_001079512,p.F140fs|ENST00000572102,p.F32fs|ENST00000299866,p.F140fs|uc010buo.1,p.F140fs|ENST00000572428,p.F77fs|ENST00000456096,p.F115fs|ENST00000575135,p.F140fs|uc002dae.1,p.F76fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc010buo.1	frameshift deletion	exon5	c.420delT	p.F140fs	LIICPMIWIVFFFSTLFSLKLKWLA	LIICPMIWIVFFLAPYFP	3.0	5.0	unscreened	-	4180_16:10867203-10867203 A>-_LIICPMIWIVFFLAPYFP
5:153796375-153796375 A>G	0.0	4180	BREAST	-	-	-	-	GALNT10	ENST00000377661,p.D490G|NM_198321,p.D552G|ENST00000377657,p.D225G|ENST00000297107,p.D552G|uc003lvh.3,p.D552G|uc010jid.3,p.D393G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jid.3	nonsynonymous SNV	exon9	c.A1178G	p.D393G	SMKGNQLWKYRKDKTLYHPVSGSCM	SMKGNQLWKYRKGKTLYHPVSGSCM	7.0	7.0	unscreened	-	4180_5:153796375-153796375 A>G_SMKGNQLWKYRKGKTLYHPVSGSCM
9:36840596-36840596 G>T	0.0	4180	BREAST	-	-	-	1	PAX5	NM_001280550,p.P273Q|uc010mlr.1,p.P302Q|NM_001280549,p.P302Q|ENST00000520154,p.P273Q|uc010mls.1,p.P273Q|ENST00000523241,p.P302Q	retained_intron, protein_coding, nonsense_mediated_decay	uc010mls.1	nonsynonymous SNV	exon7	c.C818A	p.P273Q	APPTIIALPPEEPPHLQPPLPMTVT	APPTIIALPPEEQPHLQPPLPMTVT	3.0	4.0	unscreened	-	4180_9:36840596-36840596 G>T_APPTIIALPPEEQPHLQPPLPMTVT
1:19018439-19018439 C>T	0.0	4180	BREAST	-	-	ID=COSM1219384,COSM1219385;OCCURENCE=1(large_intestine)	1	PAX7	ENST00000375375,p.R260C|NM_001135254,p.R260C|NM_013945,p.R258C|uc001baz.3,p.R258C|uc001bay.3,p.R260C|ENST00000400661,p.R258C|ENST00000420770,p.R260C|NM_002584,p.R260C|uc010oct.2,p.R260C	protein_coding	uc010oct.2	nonsynonymous SNV	exon5	c.C778T	p.R260C	EELAQRTKLTEARVQVWFSNRRARW	EELAQRTKLTEACVQVWFSNRRARW	1.0	5.0	unscreened	-	4180_1:19018439-19018439 C>T_EELAQRTKLTEACVQVWFSNRRARW
9:135946691-135946691 C>-	0.0	4180	BREAST	-	-	-	-	CEL	ENST00000372080,p.A604fs|NM_001807,p.A604fs|ENST00000351304,p.A535fs|uc010naa.2,p.A604fs	protein_coding	uc010naa.2	frameshift deletion	exon11	c.1811delC	p.A604fs	GAPPVPPTGDSGAPPVPPTGDSGAP	GAPPVPPTGDSGAPPCRPRVTPGPPPCRPRVTPGPPPCRPRVTPGPPPCRPRVTPGPPPCRPRVTPGPPPCRPRVTPAPPPCRPRVTPGPPPCRPRVTPAPPPCRPRVTPGPPP	3.0	6.0	unscreened	-	4180_9:135946691-135946691 C>-_GAPPVPPTGDSGAPPCRPRVTPGPPPCRPRVTPGPPPCRPRVTPGPPPCRPRVTPGPPPCRPRVTPGPPPCRPRVTPAPPPCRPRVTPGPPPCRPRVTPAPPPCRPRVTPGPPP
16:67860415-67860415 G>A	0.0	4180	BREAST	-	-	-	-	TSNAXIP1	uc010vka.2,p.V451M|NM_001288990,p.V451M|uc010vkb.2,p.V382M|NM_018430,p.V397M|ENST00000561639,p.V451M|uc002euh.4,p.V105M|NM_001288991,p.V382M|uc010vjz.1,p.V274M|NM_001288994,p.V105M|ENST00000388833,p.V397M|uc002euj.3,p.V397M|uc002eui.4,p.V105M|NM_001288992,p.V105M|ENST00000431934,p.V268M|ENST00000415766,p.V382M|uc002euk.3,p.V130M|uc002euf.4,p.V130M|NM_001288993,p.V105M	retained_intron, protein_coding, nonsense_mediated_decay	uc010vkb.2	nonsynonymous SNV	exon9	c.G1144A	p.V382M	GLVENKKPSKKDVVNLLKDAWKERL	GLVENKKPSKKDMVNLLKDAWKERL	2.0	2.0	unscreened	-	4180_16:67860415-67860415 G>A_GLVENKKPSKKDMVNLLKDAWKERL
4:186536086-186536086 G>A	1.0	4180	BREAST	-	-	-	-	SORBS2	uc003iyg.3,p.P1042S|ENST00000448662,p.P489S|uc003iyn.1,p.P519S|uc011ckw.2,p.P489S|uc003iye.3,p.P501S|ENST00000431808,p.P928S|uc003iyo.1,p.P377S|ENST00000319471,p.P559S|NM_001145672,p.P489S|uc011ckv.2,p.P832S|ENST00000393528,p.P494S|uc003iyk.3,p.P472S|uc003iyf.3,p.P464S|uc003iyd.3,p.P627S|uc003iyh.3,p.P652S|ENST00000437304,p.P652S|ENST00000355634,p.P1028S|uc003iyc.3,p.P381S|ENST00000451974,p.P277S|NM_001145671,p.P559S|uc003iym.3,p.P1028S|ENST00000418609,p.P832S|uc011ckx.2,p.P494S|ENST00000449407,p.P472S|NM_001270771,p.P1028S|ENST00000319454,p.P519S|NM_001145670,p.P472S|NM_001145674,p.P832S|uc003iyl.3,p.P928S|NM_001145673,p.P652S|NM_021069,p.P928S|uc011cku.2,p.P320S|uc003iyb.3,p.P401S|NM_001145675,p.P320S|uc003iyi.4,p.P559S|uc003iya.3,p.P448S|NM_003603,p.P494S|ENST00000284776,p.P928S	retained_intron, protein_coding, processed_transcript	uc011ckx.2	nonsynonymous SNV	exon19	c.C1480T	p.P494S	YVEKLTPPEKAQPARPPPPAQPGEI	YVEKLTPPEKAQSARPPPPAQPGEI	9.0	7.0	-	-	4180_4:186536086-186536086 G>A_YVEKLTPPEKAQSARPPPPAQPGEI
17:11282758-11282758 G>T	0.0	4180	BREAST	-	-	-	-	SHISA6	NM_207386,p.S276I|uc002gnc.2,p.S276I|ENST00000432116,p.S276I|ENST00000441885,p.S276I|NM_001173462,p.S276I|uc010com.3,p.S276I	retained_intron, protein_coding	uc010com.3	nonsynonymous SNV	exon3	c.G827T	p.S276I	QTPGHYGKDAYRSGGPDLHNFISSG	QTPGHYGKDAYRIGGPDLHNFISSG	1.0	8.0	unscreened	-	4180_17:11282758-11282758 G>T_QTPGHYGKDAYRIGGPDLHNFISSG
15:77763367-77763367 G>A	1.0	4180	BREAST	-	-	-	-	HMG20A	ENST00000336216,p.G189D|ENST00000381714,p.G189D|uc002bcs.3,p.G189D|NM_018200,p.G189D|uc002bcr.3,p.G189D	retained_intron, protein_coding, nonsense_mediated_decay	uc002bcs.3	nonsynonymous SNV	exon5	c.G566A	p.G189D	KVFSRKTQDRQKGKSHRQDAARQAT	KVFSRKTQDRQKDKSHRQDAARQAT	8.0	7.0	unscreened	-	4180_15:77763367-77763367 G>A_KVFSRKTQDRQKDKSHRQDAARQAT
1:155317683-155317683 G>A	0.0	4180	BREAST	-	-	ID=COSM206743;OCCURENCE=1(endometrium),1(large_intestine)	-	ASH1L	ENST00000392403,p.R2523C|uc001fkt.3,p.R2523C|NM_018489,p.R2523C|uc009wqq.3,p.R2528C|ENST00000368346,p.R2528C	retained_intron, protein_coding, nonsense_mediated_decay	uc009wqq.3	nonsynonymous SNV	exon20	c.C7582T	p.R2528C	LKVFRNAEKYYGRKSPVGRDVCRLR	LKVFRNAEKYYGCKSPVGRDVCRLR	7.0	2.0	unscreened	-	4180_1:155317683-155317683 G>A_LKVFRNAEKYYGCKSPVGRDVCRLR
2:131414669-131414669 G>A	0.0	4180	BREAST	-	rs4369872	-	-	POTEJ	ENST00000409602,p.R779H|uc021vor.2,p.R779H|NM_001277083,p.R779H	protein_coding	uc021vor.2	nonsynonymous SNV	exon15	c.G2336A	p.R779H	LLTEAPLNPKANREKMTQIMFETFN	LLTEAPLNPKANHEKMTQIMFETFN	5.0	4.0	unscreened	-	4180_2:131414669-131414669 G>A_LLTEAPLNPKANHEKMTQIMFETFN
14:23862603-23862603 T>G	0.0	4180	BREAST	-	-	-	-	MYH6	NM_002471,p.K1018T|ENST00000356287,p.K1018T|uc001wjv.3,p.K1018T|ENST00000405093,p.K1018T	retained_intron, protein_coding	uc001wjv.3	nonsynonymous SNV	exon23	c.A3053C	p.K1018T	QQALDDLQVEEDKVNSLSKSKVKLE	QQALDDLQVEEDTVNSLSKSKVKLE	1.0	2.0	unscreened	-	4180_14:23862603-23862603 T>G_QQALDDLQVEEDTVNSLSKSKVKLE
16:11362767-11362767 ->T	0.0	4180	BREAST	-	-	-	-	TNP2	ENST00000312693,p.M118fs|NM_005425,p.M118fs|uc002das.3,p.M118fs	retained_intron, protein_coding	uc002das.3	frameshift insertion	exon1	c.352dupA	p.M118fs	RKNLEGKLKKKKMAKRIQQVYKTKT	RKNLEGKLKKKKNGQEDPAGVQNQDAELRMEIQL	1.0	4.0	unscreened	-	4180_16:11362767-11362767 ->T_RKNLEGKLKKKKNGQEDPAGVQNQDAELRMEIQL
10:94004-94004 C>T	0.0	4180	BREAST	-	-	ID=COSM226663;OCCURENCE=1(skin)	-	TUBB8	NM_177987,p.A110T|ENST00000447903,p.A38T|ENST00000309812,p.A110T|uc001ifi.2,p.A110T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ifi.2	nonsynonymous SNV	exon4	c.G328A	p.A110T	GNNWAKGHYTEGAELMESVMDVVRK	GNNWAKGHYTEGTELMESVMDVVRK	4.0	8.0	unscreened	-	4180_10:94004-94004 C>T_GNNWAKGHYTEGTELMESVMDVVRK
10:97194403-97194403 C>T	0.0	4180	BREAST	-	-	-	-	SORBS1	uc001kkq.3,p.A50T|uc001kko.3,p.A50T|uc001kku.3,p.A50T|uc001kkp.3,p.A50T|NM_001034955,p.A50T|NM_001290294,p.A50T|NM_001290296,p.A50T|NM_024991,p.A50T|NM_001034956,p.A50T|NM_001034954,p.A50T|NM_001290298,p.A50T	protein_coding, processed_transcript, nonsense_mediated_decay	uc001kku.3	nonsynonymous SNV	exon5	c.G148A	p.A50T	AVKIIPVKTVKNASGLVLPTDMDPT	AVKIIPVKTVKNTSGLVLPTDMDPT	5.0	7.0	unscreened	-	4180_10:97194403-97194403 C>T_AVKIIPVKTVKNTSGLVLPTDMDPT
12:111729272-111729272 C>-	0.0	4180	BREAST	-	-	-	-	CUX2	ENST00000261726,p.P118fs|NM_015267,p.P118fs|ENST00000397643,p.P178fs|uc001tsa.2,p.P118fs|uc001tsb.2,p.P173fs	protein_coding, processed_transcript	uc001tsb.2	frameshift deletion	exon6	c.517delC	p.P173fs	FEAARSLDDRLQPPSFDPSGQPRRD	FEAARSLDDRLQPPALTPVGSPGETSTLRGRGTPSSSAPKSRERGRRLPGPR	1.0	2.0	unscreened	-	4180_12:111729272-111729272 C>-_FEAARSLDDRLQPPALTPVGSPGETSTLRGRGTPSSSAPKSRERGRRLPGPR
19:17638189-17638189 C>T	0.0	4180	BREAST	-	-	-	-	FAM129C	ENST00000599124,p.R14W|ENST00000601861,p.R14W|ENST00000352727,p.R45W|NM_001098524,p.R45W|ENST00000600871,p.R14W|uc021uqi.1,p.R45W|ENST00000332386,p.R45W|ENST00000600519,p.R14W|ENST00000300971,p.R45W|uc021uqj.1,p.R45W|ENST00000335393,p.R45W|ENST00000595684,p.R45W|NM_173544,p.R45W|uc010xps.2,p.R14W|ENST00000599164,p.R14W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021uqj.1	nonsynonymous SNV	exon2	c.C133T	p.R45W	GGRPSSPLDKQQRQHLRGQVDTLLR	GGRPSSPLDKQQWQHLRGQVDTLLR	3.0	4.0	unscreened	-	4180_19:17638189-17638189 C>T_GGRPSSPLDKQQWQHLRGQVDTLLR
14:63881885-63881885 T>-	0.0	4180	BREAST	-	-	-	-	PPP2R5E	ENST00000422769,p.K98fs|uc001xgd.1,p.K174fs|uc010tsh.1,p.K174fs|NM_006246,p.K174fs|NM_001282179,p.K174fs|uc001xge.2,p.K174fs|NM_001282182,p.K98fs|uc010tsf.1,p.K98fs|NM_001282180,p.K174fs|ENST00000337537,p.K174fs|uc010tsg.1,p.K98fs|NM_001282181,p.K98fs|ENST00000555899,p.K174fs	retained_intron, protein_coding, processed_transcript	uc010tsh.1	frameshift deletion	exon5	c.522delA	p.K174fs	LESQEFQPSIAKKYIDQKFVLQLLE	LESQEFQPSIAKNI	8.0	3.0	unscreened	-	4180_14:63881885-63881885 T>-_LESQEFQPSIAKNI
4:7045565-7045565 T>C	0.0	4180	BREAST	-	-	-	-	TADA2B	NM_152293,p.F87L|uc003gjw.4,p.F87L|ENST00000310074,p.F87L	protein_coding	uc003gjw.4	nonsynonymous SNV	exon1	c.T259C	p.F87L	EQLLLDAIEQFGFGNWEDMAAHVGA	EQLLLDAIEQFGLGNWEDMAAHVGA	7.0	6.0	unscreened	-	4180_4:7045565-7045565 T>C_EQLLLDAIEQFGLGNWEDMAAHVGA
14:20019943-20019943 G>C	0.0	4180	BREAST	-	-	-	-	POTEM	uc001vwc.3,p.T93R|ENST00000551509,p.T93R|ENST00000547722,p.T93R|NM_001145442,p.T93R|ENST00000547848,p.T93R	protein_coding, nonsense_mediated_decay	uc001vwc.3	nonsynonymous SNV	exon1	c.C278G	p.T93R	GTSGDHDDSAMKTLRSKMGKWCCHC	GTSGDHDDSAMKRLRSKMGKWCCHC	1.0	6.0	unscreened	-	4180_14:20019943-20019943 G>C_GTSGDHDDSAMKRLRSKMGKWCCHC
2:186673142-186673142 A>-	0.0	4180	BREAST	-	-	-	-	FSIP2	ENST00000424728,p.E6370fs|ENST00000343098,p.E6459fs|NM_173651,p.E6459fs|uc002upl.3,p.E6459fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	frameshift deletion	exon17	c.19376delA	p.E6459fs	KLIRLPSSSSKDEKNLSKTELNKIA	KLIRLPSSSSKDEKTYQRLS	1.0	3.0	unscreened	-	4180_2:186673142-186673142 A>-_KLIRLPSSSSKDEKTYQRLS
18:12367305-12367305 A>C	1.0	4180	BREAST	-	-	-	-	AFG3L2	NM_006796,p.D123E|uc002kqz.2,p.D123E|ENST00000269143,p.D123E	retained_intron, protein_coding	uc002kqz.2	nonsynonymous SNV	exon4	c.T369G	p.D123E	GGGGGGKRGGKKDDSHWWSRFQKGD	GGGGGGKRGGKKEDSHWWSRFQKGD	9.0	4.0	unscreened	-	4180_18:12367305-12367305 A>C_GGGGGGKRGGKKEDSHWWSRFQKGD
X:139866272-139866272 C>A	1.0	4180	BREAST	-	-	-	-	CDR1	ENST00000370532,p.S87I|NM_004065,p.S87I|uc004fbg.1,p.S87I	protein_coding	uc004fbg.1	nonsynonymous SNV	exon1	c.G260T	p.S87I	LREDKDFLEDMDSLEDMALLEDVDL	LREDKDFLEDMDILEDMALLEDVDL	3.0	8.0	unscreened	-	4180_X:139866272-139866272 C>A_LREDKDFLEDMDILEDMALLEDVDL
22:38120359-38120359 C>G	0.0	4180	BREAST	-	-	-	-	TRIOBP	uc003atr.3,p.T599R|NM_001039141,p.T599R|uc003ats.1,p.T427R|ENST00000406386,p.T599R|uc003atq.1,p.T599R|uc003atu.3,p.T427R	retained_intron, protein_coding, nonsense_mediated_decay	uc003atu.3	nonsynonymous SNV	exon5	c.C1280G	p.T427R	ASSPNRATRDNPTTSCAQRDNPRAS	ASSPNRATRDNPRTSCAQRDNPRAS	9.0	4.0	unscreened	-	4180_22:38120359-38120359 C>G_ASSPNRATRDNPRTSCAQRDNPRAS
5:13917281-13917281 A>G	0.0	4180	BREAST	-	-	-	-	DNAH5	uc003jfd.2,p.C354R|NM_001369,p.C354R|ENST00000265104,p.C354R	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon8	c.T1060C	p.C354R	KDNVKYLYTLEKCCDPLYSSDPLSM	KDNVKYLYTLEKRCDPLYSSDPLSM	4.0	9.0	unscreened	-	4180_5:13917281-13917281 A>G_KDNVKYLYTLEKRCDPLYSSDPLSM
1:176525493-176525493 C>A	0.0	4180	BREAST	-	-	ID=COSM404217,COSM404216;OCCURENCE=1(lung)	-	PAPPA2	NM_021936,p.A12E|ENST00000367661,p.A12E|NM_020318,p.A12E|uc001gkz.3,p.A12E|ENST00000367662,p.A12E|uc001gky.1,p.A12E	protein_coding, processed_transcript	uc001gkz.3	nonsynonymous SNV	exon2	c.C35A	p.A12E	MMCLKILRISLAILAGWALCSANS	MMCLKILRISLEILAGWALCSANS	1.0	4.0	unscreened	-	4180_1:176525493-176525493 C>A_MMCLKILRISLEILAGWALCSANS
1:91844672-91844672 A>G	0.0	4180	BREAST	-	-	-	-	HFM1	uc001doa.4,p.V369A|ENST00000370425,p.V369A|NM_001017975,p.V369A|uc010osv.1,p.V53A|uc010osu.2,p.V48A|ENST00000370424,p.V48A|uc001doc.1,p.V369A	retained_intron, protein_coding, processed_transcript	uc010osv.1	nonsynonymous SNV	exon3	c.T158C	p.V53A	IGLNCKELTGDTVMDDLFEIQHAHI	IGLNCKELTGDTAMDDLFEIQHAHI	2.0	5.0	unscreened	-	4180_1:91844672-91844672 A>G_IGLNCKELTGDTAMDDLFEIQHAHI
7:113519740-113519740 T>-	0.0	4180	BREAST	-	-	-	-	PPP1R3A	ENST00000449795,p.K148fs|ENST00000284601,p.K469fs|uc010ljy.1,p.K469fs|NM_002711,p.K469fs	protein_coding, nonsense_mediated_decay	uc010ljy.1	frameshift deletion	exon4	c.1407delA	p.K469fs	SSDQLMAGNLNKKHEGGAKNIEVKD	SSDQLMAGNLNKNMKEELKILK	1.0	5.0	unscreened	-	4180_7:113519740-113519740 T>-_SSDQLMAGNLNKNMKEELKILK
1:151021131-151021131 A>T	1.0	4180	BREAST	-	-	-	-	C1orf56	NM_017860,p.T270S|ENST00000368926,p.T270S|uc021oyi.1,p.T270S|uc001ewn.3,p.T270S	protein_coding, processed_transcript	uc021oyi.1	nonsynonymous SNV	exon1	c.A808T	p.T270S	LREECPLDTSLCTDTNCASQSTTST	LREECPLDTSLCSDTNCASQSTTST	8.0	7.0	unscreened	-	4180_1:151021131-151021131 A>T_LREECPLDTSLCSDTNCASQSTTST
17:72367949-72367949 C>T	0.0	4180	BREAST	-	-	-	-	GPR142	uc021ucp.1,p.T197I|uc010wqy.2,p.T200I|NM_181790,p.T200I|ENST00000335666,p.T200I	protein_coding, nonsense_mediated_decay	uc021ucp.1	nonsynonymous SNV	exon4	c.C590T	p.T197I	TRRPSYYYLLALTASDIIIQVVIVF	TRRPSYYYLLALIASDIIIQVVIVF	1.0	7.0	unscreened	-	4180_17:72367949-72367949 C>T_TRRPSYYYLLALIASDIIIQVVIVF
10:97194403-97194403 C>T	0.0	4180	BREAST	-	-	-	-	SORBS1	ENST00000371246,p.A50T|ENST00000371245,p.A50T|ENST00000393949,p.A50T|uc001kkm.3,p.A38T|ENST00000371247,p.A50T|ENST00000347291,p.A50T|ENST00000371227,p.A50T|ENST00000277982,p.A50T|uc001kkw.3,p.A50T|ENST00000306402,p.A50T|ENST00000361941,p.A50T|ENST00000353505,p.A50T|ENST00000354106,p.A50T	protein_coding, processed_transcript, nonsense_mediated_decay	uc001kkw.3	nonsynonymous SNV	exon5	c.G148A	p.A50T	AVKIIPVKTVKNASGLVLPTDMDLT	AVKIIPVKTVKNTSGLVLPTDMDLT	5.0	7.0	unscreened	-	4180_10:97194403-97194403 C>T_AVKIIPVKTVKNTSGLVLPTDMDLT
17:11593739-11593739 G>T	0.0	4180	BREAST	-	-	-	-	DNAH9	uc002gne.3,p.A1534S|NM_001372,p.A1534S|uc010coo.3,p.A828S|ENST00000262442,p.A1534S|ENST00000454412,p.A1534S	retained_intron, protein_coding, processed_transcript	uc010coo.3	nonsynonymous SNV	exon8	c.G2482T	p.A828S	LESIFTGSEDIRAQLPQDSKRFEGI	LESIFTGSEDIRSQLPQDSKRFEGI	1.0	2.0	unscreened	-	4180_17:11593739-11593739 G>T_LESIFTGSEDIRSQLPQDSKRFEGI
9:135224676-135224676 T>C	0.0	4180	BREAST	-	-	-	-	SETX	uc004cbk.3,p.Y47C|NM_015046,p.Y47C|ENST00000393220,p.Y47C|ENST00000224140,p.Y47C|ENST00000372169,p.Y47C	protein_coding, processed_transcript	uc004cbk.3	nonsynonymous SNV	exon3	c.A140G	p.Y47C	EDLCYCLECVAEYHKARDELPFLHE	EDLCYCLECVAECHKARDELPFLHE	7.0	5.0	unscreened	-	4180_9:135224676-135224676 T>C_EDLCYCLECVAECHKARDELPFLHE
X:153008476-153008476 T>C	0.0	4180	BREAST	-	-	-	-	ABCD1	ENST00000218104,p.S606P|uc004fif.2,p.S606P|NM_000033,p.S606P	protein_coding	uc004fif.2	nonsynonymous SNV	exon8	c.T1816C	p.S606P	GWEAMCDWKDVLSGGEKQRIGMARM	GWEAMCDWKDVLPGGEKQRIGMARM	9.0	3.0	unscreened	-	4180_X:153008476-153008476 T>C_GWEAMCDWKDVLPGGEKQRIGMARM
20:57768334-57768334 A>G	0.0	4180	BREAST	-	-	-	-	ZNF831	ENST00000371030,p.R754G|NM_178457,p.R754G|uc002yan.3,p.R754G	protein_coding	uc002yan.3	nonsynonymous SNV	exon1	c.A2260G	p.R754G	SGSRSPLVSPNGRLELGWQMPPAPG	SGSRSPLVSPNGGLELGWQMPPAPG	2.0	4.0	unscreened	-	4180_20:57768334-57768334 A>G_SGSRSPLVSPNGGLELGWQMPPAPG
X:134986698-134986698 A>G	0.0	4180	BREAST	-	-	ID=COSM1224596;OCCURENCE=1(large_intestine)	-	SAGE1	uc004ezh.3,p.N95D|ENST00000535938,p.N95D|uc011mvv.2,p.N95D|ENST00000370709,p.N95D|ENST00000537770,p.N95D|NM_018666,p.N95D|ENST00000324447,p.N95D	protein_coding	uc011mvv.2	nonsynonymous SNV	exon4	c.A283G	p.N95D	EERINNGQPVADNVLSTAPPWPDAT	EERINNGQPVADDVLSTAPPWPDAT	3.0	8.0	unscreened	-	4180_X:134986698-134986698 A>G_EERINNGQPVADDVLSTAPPWPDAT
6:38749053-38749053 C>-	0.0	4180	BREAST	-	-	-	-	DNAH8	ENST00000441566,p.D504fs|uc003ooe.2,p.D504fs|ENST00000359357,p.D504fs|ENST00000327475,p.D709fs|NM_001206927,p.D721fs|ENST00000449981,p.D721fs|uc021yzh.1,p.D721fs	protein_coding	uc021yzh.1	frameshift deletion	exon16	c.2163delC	p.D721fs	DATKKLYHSQKDDPPLARNMPPIAG	DATKKLYHSQKDDPLLLATCPL	1.0	5.0	unscreened	-	4180_6:38749053-38749053 C>-_DATKKLYHSQKDDPLLLATCPL
14:74769602-74769602 C>A	0.0	4180	BREAST	-	-	-	-	ABCD4	ENST00000556119,p.G5V|ENST00000469672,p.G5V|ENST00000553745,p.G5V|ENST00000555617,p.G5V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000556119	nonsynonymous SNV	exon1	c.G14T	p.G5V	MAVAGPAPGAGARAICD	MAVAVPAPGAGARAICD	7.0	4.0	unscreened	-	4180_14:74769602-74769602 C>A_MAVAVPAPGAGARAICD
3:195509939-195509939 G>T	0.0	4180	BREAST	-	-	-	2	MUC4	ENST00000462323,p.P2838T|ENST00000466475,p.P2838T|ENST00000478156,p.P2838T|ENST00000470451,p.P2838T|ENST00000480843,p.P2838T|ENST00000475231,p.P2838T|uc021xjp.1,p.P2838T|ENST00000463781,p.P2838T|ENST00000477756,p.P2838T|NM_018406,p.P2838T|ENST00000477086,p.P2838T|ENST00000479406,p.P2838T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C8512A	p.P2838T	FTGHATSLPVTIPSSASSGHTTPLP	FTGHATSLPVTITSSASSGHTTPLP	2.0	4.0	unscreened	-	4180_3:195509939-195509939 G>T_FTGHATSLPVTITSSASSGHTTPLP
22:28501665-28501665 A>G	0.0	4180	BREAST	-	-	-	-	TTC28	NM_001145418,p.L970S|ENST00000397906,p.L970S|uc003adp.4,p.L970S	retained_intron, protein_coding, processed_transcript	uc003adp.4	nonsynonymous SNV	exon8	c.T2909C	p.L970S	QAYGELGSLHSQLGNYEQAISCLER	QAYGELGSLHSQSGNYEQAISCLER	4.0	4.0	unscreened	-	4180_22:28501665-28501665 A>G_QAYGELGSLHSQSGNYEQAISCLER
11:59271134-59271134 T>-	0.0	4180	BREAST	-	-	-	-	OR4D11	NM_001004706,p.L29fs|ENST00000313253,p.L29fs|uc001noa.1,p.L29fs	protein_coding	uc001noa.1	frameshift deletion	exon1	c.86delT	p.L29fs	LTQSQDQSLVLFLFLCLVYMTTLLG	LTQSQDQSLVLFLFYVLCT	1.0	2.0	unscreened	-	4180_11:59271134-59271134 T>-_LTQSQDQSLVLFLFYVLCT
19:37382438-37382438 T>C	0.0	4180	BREAST	-	-	-	-	ZNF829	ENST00000520965,p.S500G|uc021utr.1,p.S500G|NM_001171979,p.S500G|uc002ofa.2,p.S419G|NM_001037232,p.S419G|ENST00000391711,p.S419G	retained_intron, protein_coding	uc021utr.1	nonsynonymous SNV	exon6	c.A1498G	p.S500G	PYDCKECGKAFGSRSDLIRHEGIHT	PYDCKECGKAFGGRSDLIRHEGIHT	5.0	7.0	unscreened	-	4180_19:37382438-37382438 T>C_PYDCKECGKAFGGRSDLIRHEGIHT
15:42986236-42986236 G>-	0.0	4180	BREAST	-	-	-	-	STARD9	ENST00000562619,p.G1482fs|NM_020759,p.G4154fs|uc010udj.2,p.G4154fs|ENST00000290607,p.G4154fs	retained_intron, protein_coding, nonsense_mediated_decay	uc010udj.2	frameshift deletion	exon23	c.12460delG	p.G4154fs	FSNWCGVQKGSPGGLDMTEEELGAS	FSNWCGVQKGSPGGWT	5.0	7.0	unscreened	-	4180_15:42986236-42986236 G>-_FSNWCGVQKGSPGGWT
12:52714877-52714877 ->G	0.0	4180	BREAST	-	-	-	-	KRT83	uc001saf.2,p.P81fs|NM_002282,p.P81fs|ENST00000293670,p.P81fs	protein_coding	uc001saf.2	frameshift insertion	exon1	c.242dupC	p.P81fs	GYRSGGVCGPSPPCITTVSVNESLL	GYRSGGVCGPSPPMHHHRVGQREPPHAPQPGDRPQRAVREAGGEGADQVPQQQIRGLHRQGALPGAAEQAAGDKAAVLPKPRVLPE	5.0	5.0	unscreened	-	4180_12:52714877-52714877 ->G_GYRSGGVCGPSPPMHHHRVGQREPPHAPQPGDRPQRAVREAGGEGADQVPQQQIRGLHRQGALPGAAEQAAGDKAAVLPKPRVLPE
6:47682297-47682297 G>A	0.0	4180	BREAST	-	-	-	-	GPR115	ENST00000327753,p.R439H|uc003oyz.1,p.R496H|NM_153838,p.R439H|uc003ozb.1,p.R439H|ENST00000371220,p.R496H|ENST00000283303,p.R439H|uc003oza.1,p.R439H	protein_coding	uc003ozb.1	nonsynonymous SNV	exon6	c.G1316A	p.R439H	WSRVVVTEISYMRHVCIVNIAVSLL	WSRVVVTEISYMHHVCIVNIAVSLL	3.0	3.0	unscreened	-	4180_6:47682297-47682297 G>A_WSRVVVTEISYMHHVCIVNIAVSLL
4:5837790-5837790 T>C	0.0	4180	BREAST	-	-	-	-	CRMP1	uc003gis.3,p.N492S|ENST00000324989,p.N492S|NM_001288662,p.N372S|uc003giq.3,p.N378S|NM_001014809,p.N492S|NM_001288661,p.N376S|uc003gir.3,p.N373S|ENST00000397890,p.N378S|ENST00000512574,p.N376S|NM_001313,p.N378S	protein_coding, processed_transcript	uc003gis.3	nonsynonymous SNV	exon11	c.A1475G	p.N492S	WDKAVATGKMDENQFVAVTSTNAAK	WDKAVATGKMDESQFVAVTSTNAAK	5.0	3.0	unscreened	-	4180_4:5837790-5837790 T>C_WDKAVATGKMDESQFVAVTSTNAAK
16:87741983-87741983 C>T	1.0	4180	BREAST	-	-	ID=COSM435893;OCCURENCE=1(breast)	-	KLHDC4	NM_017566,p.G513R|ENST00000353170,p.G456R|NM_001184854,p.G456R|uc002fkl.3,p.G456R|uc002fkj.3,p.G482R|ENST00000347925,p.G482R|uc002fki.3,p.G513R|ENST00000270583,p.G513R|ENST00000567298,p.G513R|NM_001184856,p.G482R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002fkl.3	nonsynonymous SNV	exon9	c.G1366A	p.G456R	EGAEGGVDDEDSGEESGAED	EGAEGGVDDEDSREESGAED	7.0	9.0	unscreened	-	4180_16:87741983-87741983 C>T_EGAEGGVDDEDSREESGAED
1:17281975-17281975 C>T	1.0	4180	BREAST	-	-	-	-	CROCC	uc001azu.2,p.R515C|NM_014675,p.R1212C|ENST00000375541,p.R1212C|uc001azt.2,p.R1212C	protein_coding, processed_transcript	uc001azu.2	nonsynonymous SNV	exon11	c.C1543T	p.R515C	ELRRSLGEGAKEREALRRSNEELRS	ELRRSLGEGAKECEALRRSNEELRS	7.0	7.0	unscreened	-	4180_1:17281975-17281975 C>T_ELRRSLGEGAKECEALRRSNEELRS
11:7642238-7642238 T>C	0.0	4180	BREAST	-	-	-	-	PPFIBP2	uc010rbc.3,p.W154R|NM_001256569,p.W88R|ENST00000533792,p.W73R|ENST00000530181,p.W88R|uc010rbb.1,p.W154R|NM_003621,p.W231R|uc010rbd.1,p.W73R|ENST00000529575,p.W73R|ENST00000525597,p.W73R|uc001mfl.5,p.W88R|NM_001256568,p.W119R|uc001mfj.5,p.W231R|uc010rbe.3,p.W119R|ENST00000299492,p.W231R|ENST00000528883,p.W119R	retained_intron, protein_coding, processed_transcript	uc010rbe.3	nonsynonymous SNV	exon4	c.T355C	p.W119R	VEELENERNQYEWKLKATKAEVAQL	VEELENERNQYERKLKATKAEVAQL	9.0	3.0	unscreened	-	4180_11:7642238-7642238 T>C_VEELENERNQYERKLKATKAEVAQL
5:140049102-140049102 A>-	1.0	4180	BREAST	-	-	ID=COSM295363;OCCURENCE=1(pancreas),1(large_intestine)	-	WDR55	uc003lgr.4,p.K339fs|NM_017706,p.K339fs|ENST00000358337,p.K339fs|ENST00000504897,p.K178fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003lgr.4	frameshift deletion	exon7	c.1015delA	p.K339fs	LRAVVVDDYRRRKKKGGPLRALSSK	LRAVVVDDYRRRKKREDHCGL	8.0	7.0	unscreened	-	4180_5:140049102-140049102 A>-_LRAVVVDDYRRRKKREDHCGL
12:75715329-75715329 G>A	0.0	4180	BREAST	-	-	-	-	CAPS2	uc001sxk.4,p.P126S|ENST00000409445,p.P126S|uc001sxl.3,p.P107S|NM_032606,p.P126S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sxl.3	nonsynonymous SNV	exon5	c.C319T	p.P107S	NKLDQNIIPENLPAPTDKCKLKYQQ	NKLDQNIIPENLSAPTDKCKLKYQQ	5.0	8.0	unscreened	-	4180_12:75715329-75715329 G>A_NKLDQNIIPENLSAPTDKCKLKYQQ
12:75715329-75715329 G>A	0.0	4180	BREAST	-	-	-	-	CAPS2	ENST00000436898,p.P20S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000436898	nonsynonymous SNV	exon4	c.C58T	p.P20S	PTSDQNIIPENLPAPTDKCKLKYQQ	PTSDQNIIPENLSAPTDKCKLKYQQ	5.0	8.0	unscreened	-	4180_12:75715329-75715329 G>A_PTSDQNIIPENLSAPTDKCKLKYQQ
12:75715329-75715329 G>A	0.0	4180	BREAST	-	-	-	-	CAPS2	ENST00000552497,p.P21S|ENST00000336815,p.P21S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000552497	nonsynonymous SNV	exon2	c.C61T	p.P21S	LCYDQNIIPENLPAPTDKCKLKYQQ	LCYDQNIIPENLSAPTDKCKLKYQQ	5.0	8.0	unscreened	-	4180_12:75715329-75715329 G>A_LCYDQNIIPENLSAPTDKCKLKYQQ
12:75715329-75715329 G>A	0.0	4180	BREAST	-	-	-	-	CAPS2	uc001sxj.4,p.P69S|NM_001286547,p.P76S|ENST00000409799,p.P76S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sxj.4	nonsynonymous SNV	exon5	c.C205T	p.P69S	DDEDQNIIPENLPAPTDKCKLKYQQ	DDEDQNIIPENLSAPTDKCKLKYQQ	5.0	8.0	unscreened	-	4180_12:75715329-75715329 G>A_DDEDQNIIPENLSAPTDKCKLKYQQ
5:177733905-177733905 C>T	0.0	4180	BREAST	-	-	ID=COSM3784828,COSM3784827;OCCURENCE=1(pancreas)	-	COL23A1	ENST00000407622,p.R99H|ENST00000390654,p.R126H|uc021yiz.1,p.R126H|NM_173465,p.R126H	protein_coding, processed_transcript	uc021yiz.1	nonsynonymous SNV	exon3	c.G377A	p.R126H	SECVCPPGPPGRRGKPGRRGDPGPP	SECVCPPGPPGRHGKPGRRGDPGPP	3.0	9.0	unscreened	-	4180_5:177733905-177733905 C>T_SECVCPPGPPGRHGKPGRRGDPGPP
19:18864392-18864392 ->A	0.0	4180	BREAST	-	-	-	1	CRTC1	NM_001098482,p.K223fs|ENST00000601916,p.K132fs|ENST00000338797,p.K223fs|uc002nkb.4,p.K207fs|ENST00000321949,p.K207fs|ENST00000594658,p.K166fs|uc010ebv.3,p.K223fs|uc010ebw.3,p.K72fs|NM_015321,p.K207fs	protein_coding	uc010ebw.3	frameshift insertion	exon3	c.217dupA	p.K72fs	ADKNLSKQAWDTKKTGSRPKSCEVP	ADKNLSKQAWDTKKDGVQAQVL	6.0	2.0	unscreened	-	4180_19:18864392-18864392 ->A_ADKNLSKQAWDTKKDGVQAQVL
8:145726639-145726639 C>A	1.0	4180	BREAST	-	-	-	-	PPP1R16A	NM_032902,p.R389S|uc003zdd.3,p.R389S|ENST00000292539,p.R389S|ENST00000435887,p.R389S|uc003zdf.3,p.R389S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zdf.3	nonsynonymous SNV	exon9	c.C1165A	p.R389S	PTSPEPPEDNDDRQTGAELRPPPPE	PTSPEPPEDNDDSQTGAELRPPPPE	10.0	7.0	-	-	4180_8:145726639-145726639 C>A_PTSPEPPEDNDDSQTGAELRPPPPE
1:185969311-185969311 A>G	0.0	4180	BREAST	-	-	-	-	HMCN1	NM_031935,p.I1337V|ENST00000271588,p.I1337V|uc001grq.1,p.I1337V|ENST00000367492,p.I1337V	protein_coding, processed_transcript	uc001grq.1	nonsynonymous SNV	exon26	c.A4009G	p.I1337V	IASVTPYDNGEYICVAVNEAGTTER	IASVTPYDNGEYVCVAVNEAGTTER	5.0	8.0	unscreened	-	4180_1:185969311-185969311 A>G_IASVTPYDNGEYVCVAVNEAGTTER
10:99510177-99510177 G>-	1.0	4180	BREAST	-	-	-	-	ZFYVE27	NM_001174120,p.G166fs|NM_001174122,p.G134fs|uc010qpd.2,p.G220fs|ENST00000393677,p.G252fs|NM_001002262,p.G252fs|ENST00000453958,p.G252fs|NM_144588,p.G252fs|ENST00000370613,p.G134fs|ENST00000359980,p.G252fs|uc010qpb.2,p.G154fs|NM_001174121,p.G154fs|uc001kom.2,p.G252fs|ENST00000423811,p.G230fs|NM_001002261,p.G252fs|ENST00000337540,p.G220fs|uc010qpa.2,p.G134fs|ENST00000356257,p.G252fs|uc021pwq.1,p.G252fs|ENST00000357540,p.G166fs|uc001koq.3,p.G166fs|NM_001174119,p.G220fs|uc001kol.2,p.G252fs|ENST00000370610,p.G154fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc021pwq.1	frameshift deletion	exon6	c.754delG	p.G252fs	EHAFESPPPPDVGGKDGLMDSTPAL	EHAFESPPPPDVGGRMV	6.0	8.0	unscreened	-	4180_10:99510177-99510177 G>-_EHAFESPPPPDVGGRMV
10:72015518-72015518 G>A	0.0	4180	BREAST	-	-	-	-	NPFFR1	NM_022146,p.A163V|ENST00000449957,p.A161V|ENST00000277942,p.A163V|uc021psj.1,p.A163V	protein_coding	uc021psj.1	nonsynonymous SNV	exon4	c.C488T	p.A163V	EKLTLRKALVTIAVIWALALLIMCP	EKLTLRKALVTIVVIWALALLIMCP	1.0	5.0	unscreened	-	4180_10:72015518-72015518 G>A_EKLTLRKALVTIVVIWALALLIMCP
20:48429472-48429472 A>G	0.0	4180	BREAST	-	-	-	-	SLC9A8	uc002xuv.2,p.M5V|uc010zyj.2,p.M5V|ENST00000417961,p.M5V|NM_015266,p.M5V|NM_001260491,p.M5V|ENST00000361573,p.M5V	protein_coding, processed_transcript	uc010zyj.2	nonsynonymous SNV	exon1	c.A13G	p.M5V	MGEKMAEEERFPNTTHE	MGEKVAEEERFPNTTHE	6.0	3.0	unscreened	-	4180_20:48429472-48429472 A>G_MGEKVAEEERFPNTTHE
12:78400286-78400286 T>C	0.0	4180	BREAST	-	-	-	-	NAV3	ENST00000536525,p.I323T|uc001syp.3,p.I323T|NM_001024383,p.I323T|ENST00000549464,p.I323T|NM_014903,p.I323T|ENST00000228327,p.I323T|ENST00000397909,p.I323T|uc001syo.3,p.I323T|ENST00000266692,p.I323T	retained_intron, protein_coding, processed_transcript	uc001syp.3	nonsynonymous SNV	exon8	c.T968C	p.I323T	PPSTAGQPPASAIPSPSASKPWRSK	PPSTAGQPPASATPSPSASKPWRSK	5.0	3.0	unscreened	-	4180_12:78400286-78400286 T>C_PPSTAGQPPASATPSPSASKPWRSK
20:13866950-13866950 C>T	0.0	4180	BREAST	-	-	-	-	SEL1L2	NM_001271539,p.G295E|ENST00000378072,p.G295E|uc010zrl.3,p.G295E|ENST00000284951,p.G295E|uc002woq.5,p.G156E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zrl.3	nonsynonymous SNV	exon9	c.G884A	p.G295E	DIYQYYKFLAERGDVQIQVSLGQLH	DIYQYYKFLAEREDVQIQVSLGQLH	1.0	3.0	unscreened	-	4180_20:13866950-13866950 C>T_DIYQYYKFLAEREDVQIQVSLGQLH
1:152185723-152185723 C>A	0.0	4180	BREAST	-	-	-	-	HRNR	NM_001009931,p.Q2794H|uc001ezt.2,p.Q2794H|ENST00000368801,p.Q2794H	protein_coding	uc001ezt.2	nonsynonymous SNV	exon3	c.G8382T	p.Q2794H	SSSYGQHGSGSGQSSGYSQHGSGSG	SSSYGQHGSGSGHSSGYSQHGSGSG	1.0	2.0	unscreened	-	4180_1:152185723-152185723 C>A_SSSYGQHGSGSGHSSGYSQHGSGSG
7:43590146-43590146 G>A	0.0	4180	BREAST	-	-	-	-	HECW1	NM_015052,p.G1451S|ENST00000395891,p.G1451S|uc011kbi.1,p.G1417S|NM_001287059,p.G1417S|ENST00000453890,p.G1417S|uc003tid.1,p.G1451S	protein_coding, processed_transcript	uc011kbi.1	nonsynonymous SNV	exon25	c.G4249A	p.G1417S	YIERMVKWRVERGVVQQTEALVRGF	YIERMVKWRVERSVVQQTEALVRGF	5.0	6.0	unscreened	-	4180_7:43590146-43590146 G>A_YIERMVKWRVERSVVQQTEALVRGF
19:10415835-10415835 T>C	0.0	4180	BREAST	-	-	-	-	ZGLP1	ENST00000403903,p.K250E|uc002mnw.4,p.K250E|ENST00000403352,p.K166E|NM_001103167,p.K250E	retained_intron, protein_coding	uc002mnw.4	nonsynonymous SNV	exon4	c.A748G	p.K250E	GTRCSSCWLVPRKNVQPKRLCGRCG	GTRCSSCWLVPRENVQPKRLCGRCG	5.0	2.0	unscreened	-	4180_19:10415835-10415835 T>C_GTRCSSCWLVPRENVQPKRLCGRCG
10:81841422-81841422 A>-	0.0	4180	BREAST	-	-	-	-	TMEM254	uc031pwi.1,p.S13fs|NM_001270374,p.S13fs	protein_coding, processed_transcript	uc031pwi.1	frameshift deletion	exon2	c.39delA	p.S13fs	MRGKPQQRSETLSKKKERKKIEAKN	MRGKPQQRSETLSKKKKERK	7.0	9.0	unscreened	-	4180_10:81841422-81841422 A>-_MRGKPQQRSETLSKKKKERK
10:81841422-81841422 A>-	0.0	4180	BREAST	-	-	-	-	TMEM254	NM_001270371,p.S38fs|uc009xsn.4,p.S38fs	protein_coding, processed_transcript	uc009xsn.4	frameshift deletion	exon2	c.114delA	p.S38fs	GYYTPQQRSETLSKKKERKKIEAKN	GYYTPQQRSETLSKKKKERK	7.0	9.0	unscreened	-	4180_10:81841422-81841422 A>-_GYYTPQQRSETLSKKKKERK
19:39401254-39401254 G>C	0.0	4180	BREAST	-	-	-	-	CCER2	NM_001243212,p.H220Q|ENST00000571845,p.H87Q|ENST00000571838,p.H220Q|uc021uuj.1,p.H220Q	protein_coding	uc021uuj.1	nonsynonymous SNV	exon4	c.C660G	p.H220Q	RREDLPHHHHHHHQPEAEPRQEKEE	RREDLPHHHHHHQQPEAEPRQEKEE	1.0	9.0	unscreened	-	4180_19:39401254-39401254 G>C_RREDLPHHHHHHQQPEAEPRQEKEE
17:36508231-36508231 T>C	0.0	4180	BREAST	-	-	-	-	SOCS7	uc010cvl.3,p.L35P|NM_014598,p.L35P|ENST00000577233,p.L35P|ENST00000331159,p.L35P|uc002hqa.3,p.L35P	retained_intron, protein_coding	uc010cvl.3	nonsynonymous SNV	exon1	c.T104C	p.L35P	PSELLCPRHRCALDPKALPPGLALE	PSELLCPRHRCAPDPKALPPGLALE	7.0	3.0	unscreened	-	4180_17:36508231-36508231 T>C_PSELLCPRHRCAPDPKALPPGLALE
3:195513298-195513298 A>T	0.0	4180	BREAST	-	-	-	2	MUC4	ENST00000477086,p.L1718H|uc021xjp.1,p.L1718H|ENST00000466475,p.L1718H|ENST00000479406,p.L1718H|ENST00000475231,p.L1718H|NM_018406,p.L1718H|ENST00000463781,p.L1718H|ENST00000480843,p.L1718H|ENST00000477756,p.L1718H|ENST00000470451,p.L1718H|ENST00000462323,p.L1718H|ENST00000478156,p.L1718H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.T5153A	p.L1718H	STGQATPLPVTSLSSVSTGDTTPLP	STGQATPLPVTSHSSVSTGDTTPLP	2.0	5.0	unscreened	-	4180_3:195513298-195513298 A>T_STGQATPLPVTSHSSVSTGDTTPLP
12:7344231-7344231 C>A	0.0	4180	BREAST	-	-	-	-	PEX5	uc001qsv.3,p.A128D|NM_000319,p.A128D|ENST00000266564,p.A128D|uc010sgc.2,p.A143D|ENST00000543974,p.A45D|ENST00000537873,p.A128D|ENST00000420616,p.A128D|ENST00000396637,p.A143D|uc010sgd.2,p.A149D|NM_001131026,p.A128D|ENST00000266563,p.A128D|NM_001131023,p.A143D|NM_001300789,p.A149D|ENST00000434354,p.A143D|uc009zfu.2,p.A128D|NM_001131025,p.A128D|uc001qsw.3,p.A128D|uc001qsu.3,p.A128D|NM_001131024,p.A128D|ENST00000545574,p.A116D|ENST00000412720,p.A149D|ENST00000536883,p.A45D|ENST00000542539,p.A128D|ENST00000545845,p.A45D|ENST00000455147,p.A128D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sgd.2	nonsynonymous SNV	exon5	c.C446A	p.A149D	ENWAQEFLAAGDAVDVTQDYNETDW	ENWAQEFLAAGDDVDVTQDYNETDW	7.0	4.0	unscreened	-	4180_12:7344231-7344231 C>A_ENWAQEFLAAGDDVDVTQDYNETDW
11:46910974-46910974 C>T	0.0	4180	BREAST	-	-	-	-	LRP4	NM_002334,p.A735T|ENST00000378623,p.A735T|uc001ndn.4,p.A735T	retained_intron, protein_coding	uc001ndn.4	nonsynonymous SNV	exon16	c.G2203A	p.A735T	ACPTGFRKISSHACAQSLDKFLLFA	ACPTGFRKISSHTCAQSLDKFLLFA	3.0	6.0	unscreened	-	4180_11:46910974-46910974 C>T_ACPTGFRKISSHTCAQSLDKFLLFA
17:68128667-68128667 G>A	0.0	4180	BREAST	0.0005	-	ID=COSM1735164;OCCURENCE=1(pancreas)	-	KCNJ16	NM_018658,p.V182M|NM_170741,p.V182M|uc002jin.4,p.V147M|NM_001291623,p.V182M|uc002jio.4,p.V147M|NM_001270422,p.V147M|ENST00000283936,p.V147M|ENST00000586462,p.V186M|NM_170742,p.V182M|uc021uch.1,p.V147M|ENST00000589377,p.V147M|ENST00000585558,p.V182M|NM_001291622,p.V182M|ENST00000392670,p.V147M|NM_001291625,p.V147M|uc002jip.4,p.V179M|NM_001291624,p.V147M|ENST00000392671,p.V147M|uc002jiq.3,p.V179M|uc031reh.1,p.V147M	retained_intron, protein_coding	uc031reh.1	nonsynonymous SNV	exon6	c.G439A	p.V147M	GYRCVTEECSVAVLMVILQSILSCI	GYRCVTEECSVAMLMVILQSILSCI	1.0	3.0	unscreened	-	4180_17:68128667-68128667 G>A_GYRCVTEECSVAMLMVILQSILSCI
3:195512494-195512494 G>T	0.0	4180	BREAST	-	-	-	2	MUC4	ENST00000475231,p.P1986H|NM_018406,p.P1986H|ENST00000479406,p.P1986H|ENST00000480843,p.P1986H|ENST00000462323,p.P1986H|ENST00000478156,p.P1986H|uc021xjp.1,p.P1986H|ENST00000477086,p.P1986H|ENST00000470451,p.P1986H|ENST00000466475,p.P1986H|ENST00000477756,p.P1986H|ENST00000463781,p.P1986H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C5957A	p.P1986H	ASSVSTGHATPLPVTDASSVSTGHA	ASSVSTGHATPLHVTDASSVSTGHA	2.0	8.0	unscreened	-	4180_3:195512494-195512494 G>T_ASSVSTGHATPLHVTDASSVSTGHA
15:86311276-86311276 G>A	0.0	4180	BREAST	0.0005	-	-	-	KLHL25	NM_022480,p.A589V|ENST00000536947,p.A589V|uc002bly.3,p.A589V|uc021stw.1,p.A589V|ENST00000337975,p.A589V	protein_coding, processed_transcript	uc021stw.1	nonsynonymous SNV	exon1	c.C1766T	p.A589V	PTAFVSTWKHLPA	PTAFVSTWKHLPV	7.0	2.0	unscreened	-	4180_15:86311276-86311276 G>A_PTAFVSTWKHLPV
1:41474527-41474527 T>G	1.0	4180	BREAST	-	-	-	-	CTPS1	NM_001301237,p.V348G|NM_001905,p.V504G|uc010ojo.2,p.V273G|ENST00000372621,p.V504G|uc001cgl.4,p.V504G|ENST00000372616,p.V504G|uc010ojq.2,p.V348G|ENST00000541520,p.V273G|uc001cgk.4,p.V504G	protein_coding, processed_transcript	uc010ojq.2	nonsynonymous SNV	exon12	c.T1043G	p.V348G	LEEQGLKFVGQDVEGERMEIVELED	LEEQGLKFVGQDGEGERMEIVELED	9.0	6.0	-	-	4180_1:41474527-41474527 T>G_LEEQGLKFVGQDGEGERMEIVELED
1:114680176-114680176 C>T	0.0	4180	BREAST	-	-	-	-	SYT6	NM_205848,p.E253K|uc021orz.1,p.E253K|ENST00000369547,p.E253K|uc001eev.3,p.E253K|NM_001270805,p.E253K|ENST00000393296,p.E338K	protein_coding, processed_transcript	uc021orz.1	nonsynonymous SNV	exon3	c.G757A	p.E253K	DMIGEVILDNLFEASDLSRETSIWK	DMIGEVILDNLFKASDLSRETSIWK	2.0	7.0	unscreened	-	4180_1:114680176-114680176 C>T_DMIGEVILDNLFKASDLSRETSIWK
16:75512783-75512783 C>T	0.0	4180	BREAST	-	-	-	-	CHST6	uc002feh.1,p.R315H|ENST00000332272,p.R315H|uc002fef.3,p.R315H|uc021tlj.1,p.R315H|NM_021615,p.R315H|ENST00000390664,p.R315H	protein_coding	uc021tlj.1	nonsynonymous SNV	exon1	c.G944A	p.R315H	IHNITHGSGPGARREAFKTSSRNAL	IHNITHGSGPGAHREAFKTSSRNAL	2.0	3.0	unscreened	-	4180_16:75512783-75512783 C>T_IHNITHGSGPGAHREAFKTSSRNAL
1:173842688-173842688 A>C	0.0	4180	BREAST	-	-	-	-	ZBTB37	ENST00000367702,p.K336T|ENST00000432989,p.K336T|uc001gjq.4,p.K336T|NM_032522,p.K336T	protein_coding, nonsense_mediated_decay	uc001gjq.4	nonsynonymous SNV	exon4	c.A1007C	p.K336T	ARSESPGRMDEPKQPSSQVWSCGFR	ARSESPGRMDEPTQPSSQVWSCGFR	5.0	7.0	unscreened	-	4180_1:173842688-173842688 A>C_ARSESPGRMDEPTQPSSQVWSCGFR
6:15496722-15496722 G>-	0.0	4180	BREAST	-	-	ID=COSM1239175;OCCURENCE=1(large_intestine),2(oesophagus)	-	JARID2	uc011div.3,p.V250fs|uc011diu.1,p.V286fs|ENST00000341776,p.V422fs|uc003nbj.4,p.V422fs|ENST00000541660,p.V384fs|ENST00000397311,p.V250fs|uc011diw.1,p.V384fs|NM_004973,p.V422fs|NM_001267040,p.V250fs	protein_coding, processed_transcript	uc011diw.1	frameshift deletion	exon6	c.1152delG	p.V384fs	SGRLNPKSCTKEVGGRQLREGLQLR	SGRLNPKSCTKEVGGGSCGRACSCGRGCGTPRGDWKRHTRRRSRSRPPRR	7.0	6.0	unscreened	-	4180_6:15496722-15496722 G>-_SGRLNPKSCTKEVGGGSCGRACSCGRGCGTPRGDWKRHTRRRSRSRPPRR
13:31480852-31480852 G>-	0.0	4180	BREAST	-	-	-	-	MEDAG	ENST00000380482,p.R67fs|NM_032849,p.R67fs|uc001uth.4,p.R67fs	protein_coding	uc001uth.4	frameshift deletion	exon1	c.200delG	p.R67fs	LVVARPGEPAAARGGFNVFGDGLVR	LVVARPGEPAAARGASTSSVTASCASTGSSTASAATSRGMWN	5.0	6.0	unscreened	-	4180_13:31480852-31480852 G>-_LVVARPGEPAAARGASTSSVTASCASTGSSTASAATSRGMWN
20:61637775-61637775 G>A	0.0	4180	BREAST	-	-	-	-	BHLHE23	ENST00000370346,p.R102W|NM_080606,p.R118W|uc002yeb.2,p.R102W	protein_coding	uc002yeb.2	nonsynonymous SNV	exon1	c.C304T	p.R102W	DGRRRPREQRSLRLSINARERRRMH	DGRRRPREQRSLWLSINARERRRMH	1.0	4.0	unscreened	-	4180_20:61637775-61637775 G>A_DGRRRPREQRSLWLSINARERRRMH
15:75556341-75556341 C>T	0.0	4180	BREAST	-	-	-	-	GOLGA6C	ENST00000300576,p.R161C|uc002azs.2,p.R161C|NM_001164404,p.R161C	protein_coding	uc002azs.2	nonsynonymous SNV	exon7	c.C481T	p.R161C	RHFEEESKDLAGRLQYSLQRIQELE	RHFEEESKDLAGCLQYSLQRIQELE	1.0	4.0	unscreened	-	4180_15:75556341-75556341 C>T_RHFEEESKDLAGCLQYSLQRIQELE
22:29445818-29445818 ->CAG	0.0	4180	BREAST	-	-	-	2	ZNRF3	ENST00000402174,p.D450delinsDS|ENST00000332811,p.D450delinsDS|NM_001206998,p.D550delinsDS|NM_032173,p.D450delinsDS|ENST00000406323,p.D450delinsDS|ENST00000544604,p.D550delinsDS|uc003aeg.3,p.D550delinsDS|uc021wnq.1,p.D450delinsDS	protein_coding	uc021wnq.1	nonframeshift insertion	exon8	c.1349_1350insCAG	p.D450delinsDS	VCSGYLADCPGSDSSSSSSSGQCHC	VCSGYLADCPGSDSSSSSSSSGQCH	6.0	1.0	unscreened	-	4180_22:29445818-29445818 ->CAG_VCSGYLADCPGSDSSSSSSSSGQCH
22:42538629-42538629 G>A	0.0	4180	BREAST	-	rs67780109	-	-	CYP2D7	uc003bci.3,p.R83C|uc010gyx.1,p.R83C	retained_intron, protein_coding, processed_transcript, polymorphic_pseudogene	uc010gyx.1	nonsynonymous SNV	exon4	c.C247T	p.R83C	CAAFADQAGRPFRPNGLLDKAVSNV	CAAFADQAGRPFCPNGLLDKAVSNV	5.0	3.0	unscreened	-	4180_22:42538629-42538629 G>A_CAAFADQAGRPFCPNGLLDKAVSNV
7:87760778-87760778 ->T	0.0	4180	BREAST	-	-	-	-	ADAM22	uc003ujj.2,p.Y340fs|ENST00000439864,p.Y340fs	protein_coding, processed_transcript	uc003ujj.2	frameshift insertion	exon11	c.1021dupT	p.Y340fs	HLFSYVTSVMMYYFF	HLFSYVTSVMMYYFFL	3.0	8.0	unscreened	-	4180_7:87760778-87760778 ->T_HLFSYVTSVMMYYFFL
18:30913151-30913151 T>A	0.0	4180	BREAST	-	-	-	-	CCDC178	ENST00000300227,p.K289I|ENST00000579947,p.K289I|ENST00000402325,p.K289I|NM_001105528,p.K289I|ENST00000583930,p.K289I|uc002kxp.3,p.K289I|ENST00000383096,p.K289I|uc002kxo.2,p.K289I|ENST00000406524,p.K289I|NM_198995,p.K289I|ENST00000403303,p.K289I|uc010xbr.1,p.K289I|uc002kxn.2,p.K289I	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc010xbr.1	nonsynonymous SNV	exon9	c.A866T	p.K289I	QNQELQDLKNHYKKKMEVMDLHRKV	QNQELQDLKNHYIKKMEVMDLHRKV	1.0	6.0	unscreened	-	4180_18:30913151-30913151 T>A_QNQELQDLKNHYIKKMEVMDLHRKV
16:88643859-88643859 A>C	1.0	4180	BREAST	-	-	-	-	ZC3H18	uc021tmm.1,p.S110R|NM_144604,p.S110R|NM_001294340,p.S110R|uc010voz.2,p.S110R|uc010vpa.1,p.S110R|ENST00000452588,p.S110R|uc002fky.3,p.S110R|ENST00000301011,p.S110R	retained_intron, protein_coding	uc021tmm.1	nonsynonymous SNV	exon2	c.A328C	p.S110R	EEEGDEGEEDRTSDLRDEASSVTRE	EEEGDEGEEDRTRDLRDEASSVTRE	9.0	6.0	-	-	4180_16:88643859-88643859 A>C_EEEGDEGEEDRTRDLRDEASSVTRE
20:29960672-29960672 A>-	0.0	4180	BREAST	-	-	ID=COSM1163730;OCCURENCE=1(pancreas),3(large_intestine)	-	DEFB118	NM_054112,p.E24fs|ENST00000253381,p.E24fs|uc002wvr.3,p.E24fs	protein_coding	uc002wvr.3	frameshift deletion	exon2	c.71delA	p.E24fs	VLLPQVIPAYSGEKKCWNRSGHCRK	VLLPQVIPAYSGEKNAGTDQGTAGNNAKMEKQ	1.0	7.0	unscreened	-	4180_20:29960672-29960672 A>-_VLLPQVIPAYSGEKNAGTDQGTAGNNAKMEKQ
2:168107973-168107973 G>T	0.0	4180	BREAST	-	-	-	-	XIRP2	ENST00000409195,p.K3357N|NM_152381,p.K3357N|uc002udy.3,p.K3182N|uc002udx.3,p.K3357N|NM_001199144,p.K3135N|uc010fpq.3,p.K3135N|ENST00000295237,p.K3357N|ENST00000409273,p.K3135N	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.G9405T	p.K3135N	VSEAKSNRRVYAKGETNHNIQQESR	VSEAKSNRRVYANGETNHNIQQESR	1.0	4.0	unscreened	-	4180_2:168107973-168107973 G>T_VSEAKSNRRVYANGETNHNIQQESR
19:6822269-6822269 G>A	0.0	4180	BREAST	-	-	-	2	VAV1	ENST00000602142,p.V163M|ENST00000596764,p.V163M|uc010xjh.2,p.V163M|uc010dva.2,p.V163M|uc002mfv.2,p.V108M|uc002mfu.2,p.V163M|NM_001258206,p.V163M|ENST00000599806,p.V108M|ENST00000539284,p.V98M|ENST00000304076,p.V163M|NM_001258207,p.V163M|NM_005428,p.V163M	retained_intron, protein_coding	uc010xjh.2	nonsynonymous SNV	exon5	c.G487A	p.V163M	DTVEEDEDLYDCVENEEAEGDEIYE	DTVEEDEDLYDCMENEEAEGDEIYE	7.0	5.0	unscreened	-	4180_19:6822269-6822269 G>A_DTVEEDEDLYDCMENEEAEGDEIYE
3:42730543-42730543 A>G	0.0	4180	BREAST	-	-	-	-	KLHL40	uc003clv.1,p.N535S|ENST00000287777,p.N535S|NM_152393,p.N535S	protein_coding	uc003clv.1	nonsynonymous SNV	exon4	c.A1604G	p.N535S	LTSSAEVYSITDNKWAPFEAFPQER	LTSSAEVYSITDSKWAPFEAFPQER	1.0	6.0	unscreened	-	4180_3:42730543-42730543 A>G_LTSSAEVYSITDSKWAPFEAFPQER
6:49704135-49704135 A>T	0.0	4180	BREAST	-	-	-	-	CRISP3	ENST00000263045,p.V66E|ENST00000393666,p.V53E|ENST00000371159,p.V84E|NM_006061,p.V66E|NM_001190986,p.V76E|uc021zai.1,p.V76E|ENST00000433368,p.V76E|ENST00000354620,p.V76E|uc003ozs.3,p.V66E	protein_coding	uc021zai.1	nonsynonymous SNV	exon3	c.T227A	p.V76E	EIVNKHNELRRAVSPPARNMLKMEW	EIVNKHNELRRAESPPARNMLKMEW	4.0	2.0	unscreened	-	4180_6:49704135-49704135 A>T_EIVNKHNELRRAESPPARNMLKMEW
14:24040436-24040436 C>-	0.0	4180	BREAST	-	-	ID=COSM253010;OCCURENCE=15(large_intestine),1(pancreas),1(ovary),1(central_nervous_system)	-	JPH4	uc001wkq.2,p.A502fs|ENST00000356300,p.A502fs|ENST00000397118,p.A502fs|uc001wkr.2,p.A502fs|NM_032452,p.A502fs|NM_001146028,p.A502fs|uc010tnr.1,p.A167fs|ENST00000544177,p.A167fs	retained_intron, protein_coding	uc010tnr.1	frameshift deletion	exon3	c.499delG	p.A167fs	SSPKAWPEEWGGAGAQAEELAGYEA	SSPKAWPEEWGGQAHRQRN	3.0	5.0	unscreened	-	4180_14:24040436-24040436 C>-_SSPKAWPEEWGGQAHRQRN
22:50297713-50297713 A>G	0.0	4180	BREAST	-	-	-	-	ALG12	uc003biy.3,p.Y414H|NM_024105,p.Y414H|ENST00000330817,p.Y414H	protein_coding, nonsense_mediated_decay	uc003biy.3	nonsynonymous SNV	exon10	c.T1240C	p.Y414H	VSRFLQVNSAWRYDKREDVQPGTGM	VSRFLQVNSAWRHDKREDVQPGTGM	7.0	4.0	unscreened	-	4180_22:50297713-50297713 A>G_VSRFLQVNSAWRHDKREDVQPGTGM
2:202400639-202400639 C>A	0.0	4180	BREAST	-	-	-	-	ALS2CR11	ENST00000450242,p.E537D|NM_001168217,p.E537D|uc021vvc.1,p.E537D	protein_coding, processed_transcript	uc021vvc.1	nonsynonymous SNV	exon13	c.G1611T	p.E537D	SWQNNNLNLAERENTGLVSTRLKIK	SWQNNNLNLAERDNTGLVSTRLKIK	1.0	8.0	unscreened	-	4180_2:202400639-202400639 C>A_SWQNNNLNLAERDNTGLVSTRLKIK
19:22940463-22940463 C>A	0.0	4180	BREAST	-	-	-	-	ZNF99	uc021urt.1,p.V750L|ENST00000596209,p.V750L|ENST00000397104,p.V659L|NM_001080409,p.V750L	protein_coding	uc021urt.1	nonsynonymous SNV	exon4	c.G2248T	p.V750L	CGKAFKWSSKLTVHKVIHTAEKPCK	CGKAFKWSSKLTLHKVIHTAEKPCK	1.0	6.0	unscreened	-	4180_19:22940463-22940463 C>A_CGKAFKWSSKLTLHKVIHTAEKPCK
10:70412302-70412302 A>G	0.0	4180	BREAST	-	-	ID=COSM1675307;OCCURENCE=1(skin)	1	TET1	ENST00000373644,p.Y1471C|NM_030625,p.Y1471C|uc001jok.4,p.Y1471C	protein_coding	uc001jok.4	nonsynonymous SNV	exon6	c.A4412G	p.Y1471C	QKGNAIRIEIVVYTGKEGKSSHGCP	QKGNAIRIEIVVCTGKEGKSSHGCP	4.0	4.0	unscreened	-	4180_10:70412302-70412302 A>G_QKGNAIRIEIVVCTGKEGKSSHGCP
12:117703230-117703230 C>-	0.0	4180	BREAST	-	-	ID=COSM1359115;OCCURENCE=1(large_intestine)	-	NOS1	NM_001204213,p.G340fs|uc001twn.2,p.G676fs|NM_001204218,p.G676fs|ENST00000338101,p.G676fs|NM_001204214,p.G340fs|uc021ren.1,p.G340fs|uc021reo.1,p.G340fs|ENST00000317775,p.G676fs|NM_000620,p.G676fs|uc001twm.2,p.G676fs	protein_coding, processed_transcript	uc021reo.1	frameshift deletion	exon11	c.1019delG	p.G340fs	IKHMENEYRCRGGCPADWVWIVPPM	IKHMENEYRCRGAALPTGCGSCPPCPEASPLCSTRRCSTTGSPPPSNTSLIPGTRMSGKAPTGPPQSGEPLASRS	1.0	6.0	unscreened	-	4180_12:117703230-117703230 C>-_IKHMENEYRCRGAALPTGCGSCPPCPEASPLCSTRRCSTTGSPPPSNTSLIPGTRMSGKAPTGPPQSGEPLASRS
14:23884969-23884969 G>A	0.0	4180	BREAST	-	-	ID=COSM1258461;OCCURENCE=1(oesophagus)	-	MYH7	NM_000257,p.R1676W|ENST00000355349,p.R1676W|uc001wjx.3,p.R1676W	protein_coding	uc001wjx.3	nonsynonymous SNV	exon35	c.C5026T	p.R1676W	NDDLKENIAIVERRNNLLQAELEEL	NDDLKENIAIVEWRNNLLQAELEEL	1.0	8.0	unscreened	-	4180_14:23884969-23884969 G>A_NDDLKENIAIVEWRNNLLQAELEEL
5:158630642-158630642 T>C	1.0	4180	BREAST	-	-	ID=COSM1065119;OCCURENCE=1(endometrium),1(large_intestine)	-	RNF145	NM_001199380,p.K25R|uc010jiq.2,p.K25R|ENST00000518802,p.K25R	retained_intron, protein_coding, processed_transcript	uc010jiq.2	nonsynonymous SNV	exon2	c.A74G	p.K25R	TWSLQVFSKKKKKKKKNNMAAKEKL	TWSLQVFSKKKKRKKKNNMAAKEKL	8.0	8.0	unscreened	-	4180_5:158630642-158630642 T>C_TWSLQVFSKKKKRKKKNNMAAKEKL
11:2426237-2426237 G>A	0.0	4180	BREAST	-	-	-	-	TRPM5	ENST00000533060,p.A1151V|ENST00000155858,p.A1143V|uc001lwm.4,p.A1143V|NM_014555,p.A1143V|ENST00000533881,p.A1137V|uc010qxl.2,p.A1151V|uc009ydn.3,p.A1145V|ENST00000452833,p.A1145V	protein_coding	uc010qxl.2	nonsynonymous SNV	exon24	c.C3452T	p.A1151V	SSQHCGEGSQLVAADHRGGLDGWEQ	SSQHCGEGSQLVVADHRGGLDGWEQ	1.0	3.0	unscreened	-	4180_11:2426237-2426237 G>A_SSQHCGEGSQLVVADHRGGLDGWEQ
17:71384134-71384134 T>C	0.0	4180	BREAST	-	-	-	-	SDK2	NM_001144952,p.D1412G|uc002jjt.4,p.D571G|uc010dfn.2,p.D1091G|ENST00000424778,p.D588G|ENST00000388726,p.D1412G|uc010dfm.3,p.D1412G|ENST00000392650,p.D1412G	retained_intron, protein_coding, processed_transcript	uc010dfn.2	nonsynonymous SNV	exon23	c.A3272G	p.D1091G	PQPPSRPMVQQEDVRARSVLLSWEP	PQPPSRPMVQQEGVRARSVLLSWEP	3.0	6.0	unscreened	-	4180_17:71384134-71384134 T>C_PQPPSRPMVQQEGVRARSVLLSWEP
15:82335931-82335931 A>G	0.0	4180	BREAST	-	-	-	-	MEX3B	uc002bgq.2,p.L427S|ENST00000329713,p.L427S|NM_032246,p.L427S	protein_coding	uc002bgq.2	nonsynonymous SNV	exon2	c.T1280C	p.L427S	GASAPSNANLGLLVHRRLHPGTSCP	GASAPSNANLGLSVHRRLHPGTSCP	4.0	8.0	unscreened	-	4180_15:82335931-82335931 A>G_GASAPSNANLGLSVHRRLHPGTSCP
2:157185872-157185872 C>T	0.0	4180	BREAST	-	-	-	-	NR4A2	ENST00000417764,p.G213D|NM_006186,p.G276D|uc002tyz.4,p.G276D|uc002tyx.4,p.G213D|ENST00000429376,p.G213D|uc021vri.1,p.G276D|ENST00000426264,p.G213D|ENST00000409108,p.G276D|ENST00000339562,p.G276D|uc010zcf.2,p.G276D|ENST00000417972,p.G213D|ENST00000539077,p.G287D|ENST00000409572,p.G276D	protein_coding, nonsense_mediated_decay	uc021vri.1	nonsynonymous SNV	exon1	c.G827A	p.G276D	AVCGDNAACQHYGVRTCEGCKGFFK	AVCGDNAACQHYDVRTCEGCKGFFK	6.0	6.0	unscreened	-	4180_2:157185872-157185872 C>T_AVCGDNAACQHYDVRTCEGCKGFFK
6:102503432-102503432 A>-	0.0	4180	BREAST	-	-	ID=COSM311627,COSM311628;OCCURENCE=1(lung),9(large_intestine),1(pancreas)	-	GRIK2	ENST00000369134,p.K798fs|ENST00000421544,p.K847fs|NM_021956,p.K847fs|uc003pqp.4,p.K847fs|ENST00000369137,p.K771fs	retained_intron, protein_coding	uc003pqp.4	frameshift deletion	exon15	c.2539delA	p.K847fs	VFVAVGEFLYKSKKNAQLEKRSFCS	VFVAVGEFLYKSKKTLNWKRGPSVVPW	1.0	3.0	unscreened	-	4180_6:102503432-102503432 A>-_VFVAVGEFLYKSKKTLNWKRGPSVVPW
X:107224692-107224692 T>-	0.0	4180	BREAST	-	-	-	-	TEX13B	NM_031273,p.K186fs|uc004enn.1,p.K186fs|ENST00000302917,p.K186fs	protein_coding	uc004enn.1	frameshift deletion	exon3	c.557delA	p.K186fs	GGDWTEGAGEQEKEAVAAAGAAGGK	GGDWTEGAGEQERRRWLLLVLLEEKERRGMQRQGLPPQRSCRGWEEASGSPSELL	1.0	5.0	unscreened	-	4180_X:107224692-107224692 T>-_GGDWTEGAGEQERRRWLLLVLLEEKERRGMQRQGLPPQRSCRGWEEASGSPSELL
19:48306089-48306089 G>A	0.0	4180	BREAST	-	-	-	-	TPRX1	ENST00000535759,p.S157L|uc002php.2,p.S60L|ENST00000543508,p.S60L|ENST00000322175,p.S60L|NM_198479,p.S60L	protein_coding	uc002php.2	nonsynonymous SNV	exon2	c.C179T	p.S60L	PAASASAPQRGPSGILPAAEPTICS	PAASASAPQRGPLGILPAAEPTICS	1.0	7.0	unscreened	-	4180_19:48306089-48306089 G>A_PAASASAPQRGPLGILPAAEPTICS
1:152185739-152185739 C>T	0.0	4180	BREAST	-	-	-	-	HRNR	uc001ezt.2,p.G2789E|ENST00000368801,p.G2789E|NM_001009931,p.G2789E	protein_coding	uc001ezt.2	nonsynonymous SNV	exon3	c.G8366A	p.G2789E	SGSGQSSSYGQHGSGSGQSSGYSQH	SGSGQSSSYGQHESGSGQSSGYSQH	1.0	8.0	unscreened	-	4180_1:152185739-152185739 C>T_SGSGQSSSYGQHESGSGQSSGYSQH
16:2287919-2287919 A>G	0.0	4180	BREAST	-	-	-	-	DNASE1L2	uc002cpo.3,p.D248G|ENST00000569184,p.D227G|ENST00000382437,p.D227G|uc002cpp.3,p.D248G|ENST00000567494,p.D248G|uc002cpq.3,p.D248G|NM_001374,p.D248G|ENST00000564065,p.D248G|ENST00000320700,p.D248G|NM_001301680,p.D248G|uc002cpn.3,p.D227G	protein_coding	uc002cpq.3	nonsynonymous SNV	exon6	c.A743G	p.D248G	ADTTVGNSDCAYDRIVACGARLRRS	ADTTVGNSDCAYGRIVACGARLRRS	4.0	3.0	unscreened	-	4180_16:2287919-2287919 A>G_ADTTVGNSDCAYGRIVACGARLRRS
5:79031436-79031436 A>G	0.0	4180	BREAST	-	-	-	-	CMYA5	uc003kgc.3,p.E2283G|NM_153610,p.E2283G|ENST00000446378,p.E2283G	retained_intron, protein_coding, processed_transcript	uc003kgc.3	nonsynonymous SNV	exon2	c.A6848G	p.E2283G	NVEDLQQPKFISEVSREDYGKKEIS	NVEDLQQPKFISGVSREDYGKKEIS	2.0	3.0	unscreened	-	4180_5:79031436-79031436 A>G_NVEDLQQPKFISGVSREDYGKKEIS
X:139866383-139866383 G>T	0.0	4180	BREAST	-	-	-	-	CDR1	uc004fbg.1,p.A50D|NM_004065,p.A50D|ENST00000370532,p.A50D	protein_coding	uc004fbg.1	nonsynonymous SNV	exon1	c.C149A	p.A50D	SRLEDINLMEDMALLEDVDLLEDTD	SRLEDINLMEDMDLLEDVDLLEDTD	3.0	2.0	unscreened	-	4180_X:139866383-139866383 G>T_SRLEDINLMEDMDLLEDVDLLEDTD
5:176072448-176072448 G>A	0.0	4180	BREAST	-	-	ID=COSM1066081;OCCURENCE=1(endometrium)	-	EIF4E1B	ENST00000504597,p.R182H|NM_001099408,p.R182H|ENST00000318682,p.R182H|uc010jkf.1,p.R182H	retained_intron, protein_coding, processed_transcript	uc010jkf.1	nonsynonymous SNV	exon8	c.G545A	p.R182H	HSREVCGAVVNIRTKGDKIAVWTRE	HSREVCGAVVNIHTKGDKIAVWTRE	1.0	5.0	unscreened	-	4180_5:176072448-176072448 G>A_HSREVCGAVVNIHTKGDKIAVWTRE
17:7340791-7340791 G>A	1.0	4180	BREAST	-	-	-	-	TMEM102	NM_178518,p.G498D|ENST00000323206,p.G498D|ENST00000396568,p.G498D|uc002ggx.1,p.G498D|uc002ggy.2,p.G498D	protein_coding	uc002ggy.2	nonsynonymous SNV	exon2	c.G1493A	p.G498D	AAVEEAKVARKGGGLAGVGGGAH	AAVEEAKVARKGDGLAGVGGGAH	8.0	6.0	unscreened	-	4180_17:7340791-7340791 G>A_AAVEEAKVARKGDGLAGVGGGAH
11:1013482-1013482 A>T	0.0	4180	BREAST	-	-	-	-	MUC6	NM_005961,p.C2432S|ENST00000421673,p.C2432S|uc001lsw.2,p.C2432S	protein_coding	uc001lsw.2	nonsynonymous SNV	exon33	c.T7294A	p.C2432S	LVLTLQVFSHCVCSSVACGD	LVLTLQVFSHCVSSSVACGD	1.0	5.0	unscreened	-	4180_11:1013482-1013482 A>T_LVLTLQVFSHCVSSSVACGD
17:6704186-6704186 G>A	0.0	4180	BREAST	-	-	-	-	TEKT1	ENST00000535086,p.A164V|uc002gdt.3,p.A310V|uc010vth.2,p.A164V|ENST00000338694,p.A310V|NM_053285,p.A310V	retained_intron, protein_coding, nonsense_mediated_decay	uc010vth.2	nonsynonymous SNV	exon6	c.C491T	p.A164V	ALEKAILDQEGPAKVAHTRLETRTH	ALEKAILDQEGPVKVAHTRLETRTH	1.0	3.0	unscreened	-	4180_17:6704186-6704186 G>A_ALEKAILDQEGPVKVAHTRLETRTH
1:152083504-152083504 C>A	0.0	4180	BREAST	-	-	-	-	TCHH	uc009wne.1,p.R730M|uc001ezp.3,p.R730M|NM_007113,p.R730M|ENST00000368804,p.R730M	protein_coding	uc009wne.1	nonsynonymous SNV	exon3	c.G2189T	p.R730M	KVYSRPRKQEGQRRRQEQEEKRRRR	KVYSRPRKQEGQMRRQEQEEKRRRR	1.0	8.0	unscreened	-	4180_1:152083504-152083504 C>A_KVYSRPRKQEGQMRRQEQEEKRRRR
12:133198121-133198121 G>A	0.0	4180	BREAST	0.0	-	-	-	P2RX2	NM_170683,p.G353R|ENST00000343948,p.G353R|uc001ukk.1,p.G353R	protein_coding	uc001ukk.1	nonsynonymous SNV	exon10	c.G1057A	p.G353R	TIINLATALTSVGVVRNPLWGPSGC	TIINLATALTSVRVVRNPLWGPSGC	1.0	6.0	unscreened	-	4180_12:133198121-133198121 G>A_TIINLATALTSVRVVRNPLWGPSGC
X:101572386-101572386 A>G	0.0	4180	BREAST	-	-	-	-	NXF2,NXF2B	ENST00000372758,p.D95G|NM_022053,p.D95G|ENST00000372757,p.D95G|ENST00000395088,p.D95G|uc022cau.1,p.D95G|uc004eiv.4,p.D95G|ENST00000330252,p.D95G|uc004eix.4,p.D95G|NM_001099686,p.D95G	protein_coding, processed_transcript	uc022cau.1	nonsynonymous SNV	exon9	c.A284G	p.D95G	IRCERRMKWHSEDEIRITTWRNRKP	IRCERRMKWHSEGEIRITTWRNRKP	1.0	3.0	unscreened	-	4180_X:101572386-101572386 A>G_IRCERRMKWHSEGEIRITTWRNRKP
7:100350079-100350079 C>A	0.0	4180	BREAST	-	-	-	-	ZAN	ENST00000538115,p.T784K|uc003uwj.3,p.T784K|ENST00000542585,p.T784K|uc003uwk.3,p.T784K|ENST00000546292,p.T784K	protein_coding, polymorphic_pseudogene	uc003uwk.3	nonsynonymous SNV	exon14	c.C2351A	p.T784K	KLTIPTEKPTIPTEKPTIPTEKPTI	KLTIPTEKPTIPKEKPTIPTEKPTI	1.0	4.0	unscreened	-	4180_7:100350079-100350079 C>A_KLTIPTEKPTIPKEKPTIPTEKPTI
11:2426237-2426237 G>A	0.0	4180	BREAST	-	-	-	-	TRPM5	ENST00000528453,p.A1144V	protein_coding	ENST00000528453	nonsynonymous SNV	exon24	c.C3431T	p.A1144V	GSQHCGEGSQLVAADHRGGLDGWEQ	GSQHCGEGSQLVVADHRGGLDGWEQ	1.0	3.0	unscreened	-	4180_11:2426237-2426237 G>A_GSQHCGEGSQLVVADHRGGLDGWEQ
21:45789077-45789077 G>-	0.0	4180	BREAST	-	-	-	-	TRPM2	uc002zet.1,p.G208fs|ENST00000397932,p.G208fs|uc002zeu.1,p.G208fs|uc010gpt.1,p.G208fs|ENST00000397928,p.G208fs|NM_003307,p.G208fs|ENST00000300482,p.G208fs|ENST00000300481,p.G208fs|uc002zew.1,p.G208fs	protein_coding, processed_transcript	uc010gpt.1	frameshift deletion	exon5	c.622delG	p.G208fs	KVAQTTGAWIITGGSHTGVMKQVGE	KVAQTTGAWIITGGPTPAS	8.0	3.0	unscreened	-	4180_21:45789077-45789077 G>-_KVAQTTGAWIITGGPTPAS
1:159824662-159824662 A>G	0.0	4180	BREAST	-	-	-	-	C1orf204,VSIG8	ENST00000368100,p.C376R|uc001fuh.3,p.C376R|ENST00000368102,p.C73R|NM_001134233,p.C73R|uc001fug.1,p.C73R|NM_001013661,p.C376R	protein_coding, processed_transcript	uc001fuh.3	nonsynonymous SNV	exon7	c.T1126C	p.C376R	PCGGPEDVALAPCTAAAACEAGPSP	PCGGPEDVALAPRTAAAACEAGPSP	3.0	5.0	unscreened	-	4180_1:159824662-159824662 A>G_PCGGPEDVALAPRTAAAACEAGPSP
1:228412195-228412195 C>T	0.0	4180	BREAST	0.0009	-	-	-	OBSCN	uc001hsn.4,p.R897C|ENST00000284548,p.R897C|uc001hsq.2,p.R989C|ENST00000422127,p.R897C|NM_001271223,p.R989C|uc009xez.2,p.R897C|NM_001098623,p.R897C|ENST00000570156,p.R989C|NM_052843,p.R897C	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon9	c.C2689T	p.R897C	EPKVVFAKEQLARRKLQAEAGASAT	EPKVVFAKEQLACRKLQAEAGASAT	5.0	4.0	unscreened	-	4180_1:228412195-228412195 C>T_EPKVVFAKEQLACRKLQAEAGASAT
15:74317222-74317222 G>A	0.0	4180	BREAST	-	-	-	1	PML	uc002awj.1,p.S403N|NM_033250,p.S403N|NM_033240,p.S403N|uc002aws.3,p.S403N|ENST00000268059,p.S403N|NM_033246,p.S403N|uc002awx.3,p.S161N|ENST00000565898,p.S403N|uc002awk.3,p.S403N|ENST00000563500,p.S403N|ENST00000435786,p.S403N|ENST00000268058,p.S403N|uc002awl.3,p.S403N|ENST00000395132,p.S403N|uc002aww.1,p.S318N|ENST00000567543,p.S403N|uc002awv.3,p.S403N|NM_033238,p.S403N|ENST00000359928,p.S403N|NM_033247,p.S403N|uc002awm.3,p.S403N|uc002awp.3,p.S403N|uc002awo.3,p.S403N|uc002awq.3,p.S403N|NM_033239,p.S403N|NM_033249,p.S403N|ENST00000564428,p.S403N|NM_033244,p.S403N|ENST00000569477,p.S403N|ENST00000395135,p.S403N|uc002awn.3,p.S403N|ENST00000569965,p.S403N|NM_002675,p.S403N|uc002awu.3,p.S403N|ENST00000436891,p.S403N|uc002awt.3,p.S403N|ENST00000354026,p.S403N|uc002awr.3,p.S403N	retained_intron, protein_coding, processed_transcript	uc002awx.3	nonsynonymous SNV	exon2	c.G482A	p.S161N	TQGKDAAVSKKASPEAASTPRDPID	TQGKDAAVSKKANPEAASTPRDPID	10.0	4.0	unscreened	-	4180_15:74317222-74317222 G>A_TQGKDAAVSKKANPEAASTPRDPID
9:34627996-34627996 T>C	0.0	4180	BREAST	-	-	-	-	ARID3C	NM_001017363,p.K6E|uc011lon.2,p.K6E|ENST00000378909,p.K6E	protein_coding	uc011lon.2	nonsynonymous SNV	exon1	c.A16G	p.K6E	MEALQKQQAARLAQGVGP	MEALQEQQAARLAQGVGP	1.0	3.0	unscreened	-	4180_9:34627996-34627996 T>C_MEALQEQQAARLAQGVGP
16:1995846-1995846 G>A	0.0	4180	BREAST	-	-	ID=COSM1224217;OCCURENCE=1(large_intestine)	-	RPL3L	uc002cnh.3,p.T346M|NM_005061,p.T346M|ENST00000268661,p.T346M	protein_coding, processed_transcript	uc002cnh.3	nonsynonymous SNV	exon8	c.C1037T	p.T346M	KGCIAGTKKRVITLRKSLLVHHSRQ	KGCIAGTKKRVIMLRKSLLVHHSRQ	1.0	4.0	unscreened	-	4180_16:1995846-1995846 G>A_KGCIAGTKKRVIMLRKSLLVHHSRQ
1:156622115-156622115 A>C	0.0	4180	BREAST	-	-	-	-	BCAN	NM_021948,p.K458T|ENST00000329117,p.K458T|uc001fpp.3,p.K458T|NM_198427,p.K458T|uc001fpo.3,p.K458T|ENST00000361588,p.K458T	protein_coding, processed_transcript	uc001fpp.3	nonsynonymous SNV	exon8	c.A1373C	p.K458T	SEEEGKALEEEEKYEDEEEKEEEEE	SEEEGKALEEEETYEDEEEKEEEEE	1.0	6.0	unscreened	-	4180_1:156622115-156622115 A>C_SEEEGKALEEEETYEDEEEKEEEEE
7:100678574-100678574 C>T	0.0	4180	BREAST	-	-	-	-	MUC17	ENST00000379439,p.P1293S|ENST00000306151,p.P1293S|NM_001040105,p.P1293S|uc003uxp.1,p.P1293S	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.C3877T	p.P1293S	TSIPVSTTLVTSPEASTLLTTPVDT	TSIPVSTTLVTSSEASTLLTTPVDT	1.0	4.0	unscreened	-	4180_7:100678574-100678574 C>T_TSIPVSTTLVTSSEASTLLTTPVDT
13:111117932-111117932 G>A	1.0	4180	BREAST	0.0005	-	-	-	COL4A2	uc001vqx.3,p.A653T|ENST00000360467,p.A653T|NM_001846,p.A653T	protein_coding, processed_transcript	uc001vqx.3	nonsynonymous SNV	exon25	c.G1957A	p.A653T	PGPPGFLGPPGPAGTPGQIDCDTDV	PGPPGFLGPPGPTGTPGQIDCDTDV	10.0	7.0	unscreened	-	4180_13:111117932-111117932 G>A_PGPPGFLGPPGPTGTPGQIDCDTDV
6:157099191-157099191 C>T	0.0	4180	BREAST	-	-	-	1	ARID1B	uc003qqo.3,p.A43V|uc003qqp.3,p.A43V|ENST00000350026,p.A43V|NM_020732,p.A43V|ENST00000367148,p.A43V|uc003qqn.3,p.A43V|ENST00000346085,p.A43V|NM_017519,p.A43V	retained_intron, protein_coding, processed_transcript	uc003qqp.3	nonsynonymous SNV	exon1	c.C128T	p.A43V	AAALSSSSSSSAAAAAASSSSSSGP	AAALSSSSSSSAVAAAASSSSSSGP	7.0	4.0	unscreened	-	4180_6:157099191-157099191 C>T_AAALSSSSSSSAVAAAASSSSSSGP
5:158630642-158630642 T>C	1.0	4180	BREAST	-	-	ID=COSM1065119;OCCURENCE=1(endometrium),1(large_intestine)	-	RNF145	uc003lxo.2,p.K23R|ENST00000274542,p.K23R|NM_144726,p.K23R	retained_intron, protein_coding, processed_transcript	uc003lxo.2	nonsynonymous SNV	exon2	c.A68G	p.K23R	LCGDQVFSKKKKKKKKNNMAAKEKL	LCGDQVFSKKKKRKKKNNMAAKEKL	8.0	8.0	unscreened	-	4180_5:158630642-158630642 T>C_LCGDQVFSKKKKRKKKNNMAAKEKL
3:195508163-195508163 T>G	0.0	4180	BREAST	-	-	-	2	MUC4	ENST00000479406,p.T3430P|ENST00000478156,p.T3430P|ENST00000475231,p.T3430P|ENST00000463781,p.T3430P|ENST00000462323,p.T3430P|ENST00000466475,p.T3430P|NM_018406,p.T3430P|ENST00000477756,p.T3430P|ENST00000480843,p.T3430P|ENST00000470451,p.T3430P|ENST00000477086,p.T3430P|uc021xjp.1,p.T3430P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.A10288C	p.T3430P	STGHATPLPVTSTSSASTGHATPVP	STGHATPLPVTSPSSASTGHATPVP	2.0	7.0	unscreened	-	4180_3:195508163-195508163 T>G_STGHATPLPVTSPSSASTGHATPVP
9:72435879-72435879 G>T	0.0	4180	BREAST	-	-	-	-	C9orf135	NM_001010940,p.E28D|uc004ahl.3,p.E28D|ENST00000529446,p.E28D|ENST00000527647,p.E28D|ENST00000377197,p.E28D|ENST00000529131,p.E28D|uc010mop.3,p.E28D	protein_coding, processed_transcript, nonsense_mediated_decay	uc010mop.3	nonsynonymous SNV	exon1	c.G84T	p.E28D	QHWLEIGPPDLVERKGSLTLRSHHK	QHWLEIGPPDLVDRKGSLTLRSHHK	1.0	8.0	unscreened	-	4180_9:72435879-72435879 G>T_QHWLEIGPPDLVDRKGSLTLRSHHK
14:31626203-31626203 C>T	1.0	4180	BREAST	-	-	-	-	HECTD1	ENST00000553957,p.G66D|uc001wrd.1,p.G107D|ENST00000399332,p.G592D|uc001wrc.1,p.G592D|ENST00000556224,p.G592D|ENST00000553700,p.G592D|NM_015382,p.G592D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wrd.1	nonsynonymous SNV	exon3	c.G320A	p.G107D	TATVLDQEDDDDGHLLALQIIRDLV	TATVLDQEDDDDDHLLALQIIRDLV	9.0	6.0	unscreened	-	4180_14:31626203-31626203 C>T_TATVLDQEDDDDDHLLALQIIRDLV
17:56598135-56598135 G>C	1.0	4180	BREAST	-	-	-	-	SEPT4	ENST00000579371,p.N332K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000579371	nonsynonymous SNV	exon10	c.C996G	p.N332K	VVKERNRKDRSRN	VVKERNRKDRSRK	7.0	2.0	unscreened	-	4180_17:56598135-56598135 G>C_VVKERNRKDRSRK
17:2278801-2278801 G>A	1.0	4180	BREAST	-	-	-	-	SGSM2	uc002fun.4,p.D661N|ENST00000574563,p.D661N|uc002fum.4,p.D706N|ENST00000426855,p.D661N|ENST00000268989,p.D706N|NM_014853,p.D706N|NM_001098509,p.D661N|uc010vqw.2,p.D661N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vqw.2	nonsynonymous SNV	exon17	c.G1981A	p.D661N	DSTISNDVFISVDDLEPPEPQDPED	DSTISNDVFISVNDLEPPEPQDPED	8.0	6.0	unscreened	-	4180_17:2278801-2278801 G>A_DSTISNDVFISVNDLEPPEPQDPED
X:17705928-17705928 G>A	0.0	4180	BREAST	-	-	-	-	NHS	NM_001136024,p.R34H|NM_198270,p.R211H|uc011mix.2,p.R211H|uc004cxy.3,p.R34H|NM_001291868,p.R34H|NM_001291867,p.R211H|ENST00000380060,p.R211H|uc004cxz.3,p.R34H|ENST00000398097,p.R34H|uc004cxx.3,p.R211H	protein_coding, processed_transcript	uc011mix.2	nonsynonymous SNV	exon2	c.G632A	p.R211H	LSVYYRAPWHQQRNIFLPATRPPCV	LSVYYRAPWHQQHNIFLPATRPPCV	4.0	5.0	unscreened	-	4180_X:17705928-17705928 G>A_LSVYYRAPWHQQHNIFLPATRPPCV
10:72635270-72635270 G>-	1.0	4180	BREAST	-	-	-	-	SGPL1	ENST00000373202,p.K470fs|uc001jrm.3,p.K470fs|NM_003901,p.K470fs	protein_coding, processed_transcript	uc001jrm.3	frameshift deletion	exon13	c.1410delG	p.K470fs	FDIYRLSNLMTAKGWNLNQLQFPPS	FDIYRLSNLMTAKGGT	8.0	5.0	unscreened	-	4180_10:72635270-72635270 G>-_FDIYRLSNLMTAKGGT
15:25981206-25981206 C>T	0.0	4180	BREAST	0.0014	-	ID=COSM960009;OCCURENCE=1(endometrium)	-	ATP10A	ENST00000555815,p.C246Y|uc010ayu.3,p.C246Y|ENST00000356865,p.C246Y|NM_024490,p.C246Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ayu.3	nonsynonymous SNV	exon3	c.G737A	p.C246Y	EKPNNDLSRFRGCIIHDNGKKAGLY	EKPNNDLSRFRGYIIHDNGKKAGLY	5.0	6.0	unscreened	-	4180_15:25981206-25981206 C>T_EKPNNDLSRFRGYIIHDNGKKAGLY
2:171573000-171573000 A>G	0.0	4180	BREAST	-	-	-	-	SP5	uc002uge.3,p.T95A|NM_001003845,p.T95A|ENST00000375281,p.T95A	protein_coding, processed_transcript	uc002uge.3	nonsynonymous SNV	exon2	c.A283G	p.T95A	GALPPPHPSLGLTPQKTHLQPSFGA	GALPPPHPSLGLAPQKTHLQPSFGA	2.0	3.0	unscreened	-	4180_2:171573000-171573000 A>G_GALPPPHPSLGLAPQKTHLQPSFGA
7:150656679-150656679 G>-	0.0	4180	BREAST	-	-	ID=COSM1449224,COSM1449225;OCCURENCE=1(large_intestine)	-	KCNH2	uc003wie.3,p.P151fs|uc011kux.2,p.P55fs|NM_172056,p.P151fs|NM_000238,p.P151fs|uc003wic.3,p.P151fs|ENST00000262186,p.P151fs|ENST00000392968,p.P55fs|ENST00000430723,p.P151fs	retained_intron, protein_coding	uc011kux.2	frameshift deletion	exon1	c.165delC	p.P55fs	GSPAHDTNHRGPPTSWLAPGRAKTF	GSPAHDTNHRGPPPAGWPQAAPRPSA	6.0	4.0	unscreened	-	4180_7:150656679-150656679 G>-_GSPAHDTNHRGPPPAGWPQAAPRPSA
5:175782629-175782629 C>T	1.0	4180	BREAST	-	-	-	-	KIAA1191	NM_001079685,p.G51D|uc003mdx.3,p.G32D|NM_020444,p.G51D|NM_001287336,p.G32D|ENST00000506983,p.G32D|ENST00000504688,p.G32D|uc003mdy.3,p.G51D|ENST00000298569,p.G51D|ENST00000510164,p.G51D|ENST00000503082,p.G32D|uc003mdw.3,p.G51D|ENST00000393725,p.G32D|NM_001079684,p.G32D	retained_intron, protein_coding, processed_transcript	uc003mdy.3	nonsynonymous SNV	exon3	c.G152A	p.G51D	DPAPMTPPPSDMGSVPWKPVIPERK	DPAPMTPPPSDMDSVPWKPVIPERK	10.0	6.0	-	-	4180_5:175782629-175782629 C>T_DPAPMTPPPSDMDSVPWKPVIPERK
4:5837800-5837800 T>C	0.0	4180	BREAST	-	-	-	-	CRMP1	NM_001313,p.M375V|NM_001288661,p.M373V|ENST00000397890,p.M375V|ENST00000512574,p.M373V|ENST00000324989,p.M489V|NM_001288662,p.M369V|uc003gis.3,p.M489V|NM_001014809,p.M489V|uc003giq.3,p.M375V|uc003gir.3,p.M370V	protein_coding, processed_transcript	uc003gis.3	nonsynonymous SNV	exon11	c.A1465G	p.M489V	TVVWDKAVATGKMDENQFVAVTSTN	TVVWDKAVATGKVDENQFVAVTSTN	5.0	3.0	unscreened	-	4180_4:5837800-5837800 T>C_TVVWDKAVATGKVDENQFVAVTSTN
1:158615014-158615014 T>-	0.0	4180	BREAST	-	-	-	-	SPTA1	uc001fst.1,p.K1386fs|NM_003126,p.K1386fs|ENST00000368147,p.K1386fs|ENST00000368148,p.K1386fs	protein_coding, processed_transcript	uc001fst.1	frameshift deletion	exon29	c.4158delA	p.K1386fs	KLERDDLEKAWEKRKKILDQCLELQ	KLERDDLEKAWENARRS	1.0	2.0	unscreened	-	4180_1:158615014-158615014 T>-_KLERDDLEKAWENARRS
9:35811568-35811568 ->GCCAGAGCCATG	0.0	4180	BREAST	-	-	-	-	SPAG8	ENST00000484764,p.S157delinsHGSGS|ENST00000396638,p.S159delinsHGSGS|ENST00000475644,p.S159delinsHGSGS|NM_001039592,p.S159delinsHGSGS|uc003zyg.3,p.S159delinsHGSGS|uc003zye.3,p.S159delinsHGSGS|NM_172312,p.S159delinsHGSGS|ENST00000340291,p.S159delinsHGSGS	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zyg.3	nonframeshift insertion	exon2	c.474_475insCATGGCTCTGGC	p.S159delinsHGSGS	LGSSSGAGHGSGSGSGPGCGSVPGS	LGSSSGAGHGSGHGSGSGSGPGCGS	4.0	2.0	unscreened	-	4180_9:35811568-35811568 ->GCCAGAGCCATG_LGSSSGAGHGSGHGSGSGSGPGCGS
7:100676748-100676748 C>G	0.0	4180	BREAST	-	-	-	-	MUC17	ENST00000379439,p.T684S|uc003uxp.1,p.T684S|ENST00000306151,p.T684S|NM_001040105,p.T684S	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.C2051G	p.T684S	TAEGTSMPTSTYTEGSTPLTSMPVN	TAEGTSMPTSTYSEGSTPLTSMPVN	1.0	6.0	unscreened	-	4180_7:100676748-100676748 C>G_TAEGTSMPTSTYSEGSTPLTSMPVN
13:46549808-46549809 CT>-	1.0	4180	BREAST	-	-	ID=COSM947702;OCCURENCE=2(endometrium),1(large_intestine)	-	ZC3H13	uc010tfw.1,p.R693fs|NM_015070,p.R693fs|ENST00000242848,p.R693fs|uc001vas.1,p.R693fs|uc001vat.1,p.R693fs|ENST00000282007,p.R693fs	protein_coding, processed_transcript	uc010tfw.1	frameshift deletion	exon11	c.2077_2078del	p.R693fs	RERERDRERERERERERDREREKER	RERERDREREREGT	8.0	8.0	unscreened	-	4180_13:46549808-46549809 CT>-_RERERDREREREGT
14:105412006-105412006 T>C	0.0	4180	BREAST	-	-	-	-	AHNAK2	ENST00000333244,p.D3261G|NM_138420,p.D3261G|uc010axc.1,p.D3261G|uc001ypx.2,p.D3161G	retained_intron, protein_coding	uc010axc.1	nonsynonymous SNV	exon7	c.A9782G	p.D3261G	KGPKLDLKGPKMDVTAPDVEVSQPS	KGPKLDLKGPKMGVTAPDVEVSQPS	8.0	4.0	unscreened	-	4180_14:105412006-105412006 T>C_KGPKLDLKGPKMGVTAPDVEVSQPS
1:215955398-215955398 C>T	0.0	4180	BREAST	-	-	-	-	USH2A	uc001hku.1,p.A3576T|ENST00000307340,p.A3576T|ENST00000366943,p.A3576T|NM_206933,p.A3576T	retained_intron, protein_coding	uc001hku.1	nonsynonymous SNV	exon54	c.G10726A	p.A3576T	SYQLKACTVAGCATSSKVVAATTQG	SYQLKACTVAGCTTSSKVVAATTQG	1.0	7.0	unscreened	-	4180_1:215955398-215955398 C>T_SYQLKACTVAGCTTSSKVVAATTQG
8:91937780-91937780 C>A	0.0	4180	BREAST	-	-	-	-	NECAB1	ENST00000417640,p.P171Q|NM_022351,p.P171Q|uc011lgg.2,p.P171Q	retained_intron, protein_coding, processed_transcript	uc011lgg.2	nonsynonymous SNV	exon7	c.C512A	p.P171Q	EQTRQERQGPAKPEVLSIQWPGKRS	EQTRQERQGPAKQEVLSIQWPGKRS	2.0	7.0	unscreened	-	4180_8:91937780-91937780 C>A_EQTRQERQGPAKQEVLSIQWPGKRS
1:171247976-171247976 A>G	0.0	4180	BREAST	-	-	-	-	FMO1	uc001ghl.3,p.D198G|ENST00000354841,p.D198G|NM_001282692,p.D202G|ENST00000402921,p.D135G|ENST00000367750,p.D198G|uc010pme.2,p.D135G|uc001ghm.3,p.D198G|NM_001282694,p.D135G|uc009wvz.3,p.D198G|NM_001282693,p.D198G|NM_002021,p.D198G	protein_coding, processed_transcript	uc010pme.2	nonsynonymous SNV	exon4	c.A404G	p.D135G	RVLVIGMGNSGTDIAVEASHLAEKV	RVLVIGMGNSGTGIAVEASHLAEKV	5.0	4.0	unscreened	-	4180_1:171247976-171247976 A>G_RVLVIGMGNSGTGIAVEASHLAEKV
8:32585512-32585512 C>T	0.0	4180	BREAST	-	-	ID=COSM1099282,COSM1099284,COSM1099283,COSM1099285;OCCURENCE=3(endometrium)	1	NRG1	ENST00000356819,p.A183V|uc003xit.2,p.A183V|ENST00000287840,p.A183V|ENST00000520502,p.A238V|uc003xiw.2,p.A183V|ENST00000405005,p.A183V|uc010lvn.3,p.A149V|uc003xix.3,p.A73V|NM_013957,p.A183V|uc003xiv.2,p.A183V|uc022ats.1,p.A128V|uc010lvo.2,p.A183V|uc003xiu.2,p.A183V|ENST00000341377,p.A183V|NM_013958,p.A183V|ENST00000287845,p.A149V|ENST00000519240,p.A29V|ENST00000539990,p.A29V|NM_013960,p.A183V|ENST00000287842,p.A183V|NM_004495,p.A183V|NM_001160005,p.A149V|NM_013962,p.A364V|uc003xis.3,p.A183V|ENST00000519301,p.A128V|ENST00000523079,p.A183V|ENST00000338921,p.A183V|NM_013956,p.A183V|NM_013959,p.A238V|uc011lbg.1,p.A29V|uc010lvl.3,p.A166V|ENST00000522402,p.A29V|ENST00000521670,p.A183V|ENST00000518104,p.A145V|NM_001160007,p.A149V|uc003xip.3,p.A364V|NM_001160004,p.A183V|uc011lbh.1,p.A29V|NM_013964,p.A183V|ENST00000518084,p.A29V|uc010lvm.3,p.A149V|uc003xiy.3,p.A238V|ENST00000523534,p.A251V|uc011lbf.1,p.A183V|NM_001160008,p.A183V|NM_001159996,p.A29V|NM_001160002,p.A166V|ENST00000520407,p.A364V|uc003xir.3,p.A183V	retained_intron, protein_coding, processed_transcript	uc022ats.1	nonsynonymous SNV	exon4	c.C383T	p.A128V	TSTTGTSHLVKCAEKEKTFCVNGGE	TSTTGTSHLVKCVEKEKTFCVNGGE	4.0	7.0	unscreened	-	4180_8:32585512-32585512 C>T_TSTTGTSHLVKCVEKEKTFCVNGGE
2:45586-45586 T>C	0.0	4180	BREAST	-	-	-	-	FAM110C	uc010yim.2,p.D267G|NM_001077710,p.D267G|ENST00000327669,p.D267G	protein_coding, processed_transcript	uc010yim.2	nonsynonymous SNV	exon1	c.A800G	p.D267G	TSGSGFSRHSGGDDEGLQEEELIEQ	TSGSGFSRHSGGGDEGLQEEELIEQ	4.0	8.0	unscreened	-	4180_2:45586-45586 T>C_TSGSGFSRHSGGGDEGLQEEELIEQ
19:23328753-23328753 A>G	0.0	4180	BREAST	-	-	-	-	ZNF730	ENST00000597761,p.K303E|uc031rkc.1,p.K303E|NM_001277403,p.K303E	protein_coding	uc031rkc.1	nonsynonymous SNV	exon4	c.A907G	p.K303E	KAFNQSSNLTEHKKIHTKEQPYKCE	KAFNQSSNLTEHEKIHTKEQPYKCE	5.0	6.0	unscreened	-	4180_19:23328753-23328753 A>G_KAFNQSSNLTEHEKIHTKEQPYKCE
4:76489680-76489680 A>-	0.0	4180	BREAST	-	-	-	-	C4orf26	NM_001206981,p.A156fs|uc011cbo.2,p.A156fs|ENST00000435974,p.A156fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cbo.2	frameshift deletion	exon3	c.468delA	p.A156fs	KAEREEKPKHTEAKKSLSFRKKQQK	KAEREEKPKHTEAKKAYPSEKSNKKISVLSFET	1.0	6.0	unscreened	-	4180_4:76489680-76489680 A>-_KAEREEKPKHTEAKKAYPSEKSNKKISVLSFET
1:35226991-35226991 G>A	0.0	4180	BREAST	-	-	-	-	GJB4	ENST00000339480,p.D46N|uc001bxw.4,p.D46N|NM_153212,p.D46N|uc001bxv.1,p.D46N	protein_coding	uc001bxw.4	nonsynonymous SNV	exon1	c.G136A	p.D46N	LVYVVAAEEVWDDEQKDFVCNTKQP	LVYVVAAEEVWDNEQKDFVCNTKQP	1.0	7.0	unscreened	-	4180_1:35226991-35226991 G>A_LVYVVAAEEVWDNEQKDFVCNTKQP
15:42111104-42111104 G>A	0.0	4180	BREAST	-	-	-	-	MAPKBP1	ENST00000221214,p.G630D|ENST00000456763,p.G753D|uc010bcl.3,p.G254D|uc001zoj.4,p.G747D|NM_001128608,p.G753D|ENST00000457542,p.G747D|uc010bci.3,p.G747D|ENST00000514566,p.G747D|uc010bcj.3,p.G254D|ENST00000260357,p.G586D|uc001zok.4,p.G753D|uc010udb.2,p.G586D|NM_014994,p.G747D|NM_001265611,p.G747D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010udb.2	nonsynonymous SNV	exon18	c.G1757A	p.G586D	RQRLAELRQRQRGGKQQGPSSPQRA	RQRLAELRQRQRDGKQQGPSSPQRA	7.0	3.0	unscreened	-	4180_15:42111104-42111104 G>A_RQRLAELRQRQRDGKQQGPSSPQRA
8:55371921-55371921 G>A	0.0	4180	BREAST	-	-	ID=COSM1227171;OCCURENCE=1(large_intestine)	-	SOX17	uc003xsb.4,p.R204H|NM_022454,p.R204H|ENST00000297316,p.R204H	protein_coding	uc003xsb.4	nonsynonymous SNV	exon2	c.G611A	p.R204H	PPLLPPHMGGHYRDCQSLGAPPLDG	PPLLPPHMGGHYHDCQSLGAPPLDG	5.0	4.0	unscreened	-	4180_8:55371921-55371921 G>A_PPLLPPHMGGHYHDCQSLGAPPLDG
3:195508630-195508630 T>G	0.0	4180	BREAST	-	-	-	2	MUC4	ENST00000478156,p.Y3274S|ENST00000463781,p.Y3274S|ENST00000462323,p.Y3274S|ENST00000477086,p.Y3274S|ENST00000466475,p.Y3274S|uc021xjp.1,p.Y3274S|ENST00000480843,p.Y3274S|ENST00000479406,p.Y3274S|ENST00000470451,p.Y3274S|NM_018406,p.Y3274S|ENST00000475231,p.Y3274S|ENST00000477756,p.Y3274S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.A9821C	p.Y3274S	TTSLPVTDTSSAYTGDTTSLPVTDT	TTSLPVTDTSSASTGDTTSLPVTDT	2.0	6.0	unscreened	-	4180_3:195508630-195508630 T>G_TTSLPVTDTSSASTGDTTSLPVTDT
17:2323681-2323681 C>A	1.0	4180	BREAST	-	-	-	-	METTL16	ENST00000538844,p.R206S|NM_024086,p.R424S|ENST00000576155,p.R424S|uc002fut.3,p.R424S|ENST00000263092,p.R424S|uc010vqy.1,p.R206S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vqy.1	nonsynonymous SNV	exon8	c.G618T	p.R206S	TPKESGNSQELARGPQERTPCGPAL	TPKESGNSQELASGPQERTPCGPAL	7.0	7.0	unscreened	-	4180_17:2323681-2323681 C>A_TPKESGNSQELASGPQERTPCGPAL
2:219288530-219288530 G>A	0.0	4180	BREAST	-	-	-	-	VIL1	ENST00000454069,p.G10D|uc002vic.1,p.G10D|NM_007127,p.G10D|ENST00000248444,p.G10D|uc002via.3,p.G10D|ENST00000440053,p.G10D|uc002vib.3,p.G10D	protein_coding	uc002vic.1	nonsynonymous SNV	exon1	c.G29A	p.G10D	MTKLSAQVKGSLNITTPGLQIW	MTKLSAQVKDSLNITTPGLQIW	3.0	8.0	unscreened	-	4180_2:219288530-219288530 G>A_MTKLSAQVKDSLNITTPGLQIW
X:37026545-37026545 A>G	0.0	4180	BREAST	-	-	-	2	FAM47C	uc004ddl.2,p.Y21C|ENST00000358047,p.Y21C|NM_001013736,p.Y21C	protein_coding	uc004ddl.2	nonsynonymous SNV	exon1	c.A62G	p.Y21C	RPSSPGMDSTPWYCDKPPSKYFAKR	RPSSPGMDSTPWCCDKPPSKYFAKR	2.0	3.0	unscreened	-	4180_X:37026545-37026545 A>G_RPSSPGMDSTPWCCDKPPSKYFAKR
6:26017424-26017424 T>G	0.0	4180	BREAST	-	-	-	-	HIST1H1A	NM_005325,p.K179N|uc003nfo.3,p.K179N|ENST00000244573,p.K179N	protein_coding	uc003nfo.3	nonsynonymous SNV	exon1	c.A537C	p.K179N	KNPKKPKTVKPKKVAKSPAKAKAVK	KNPKKPKTVKPKNVAKSPAKAKAVK	1.0	3.0	unscreened	-	4180_6:26017424-26017424 T>G_KNPKKPKTVKPKNVAKSPAKAKAVK
16:49315342-49315342 G>A	0.0	4180	BREAST	-	-	-	-	CBLN1	uc002efq.3,p.A12V|ENST00000219197,p.A12V|NM_004352,p.A12V|ENST00000536749,p.A12V|ENST00000564786,p.A12V	protein_coding, nonsense_mediated_decay	uc002efq.3	nonsynonymous SNV	exon1	c.C35T	p.A12V	MLGVLELLLLGAAWLAGPARGQNE	MLGVLELLLLGVAWLAGPARGQNE	1.0	6.0	unscreened	-	4180_16:49315342-49315342 G>A_MLGVLELLLLGVAWLAGPARGQNE
14:105412501-105412501 T>C	1.0	4180	BREAST	-	-	-	-	AHNAK2	uc001ypx.2,p.D2996G|ENST00000333244,p.D3096G|NM_138420,p.D3096G|uc010axc.1,p.D3096G	retained_intron, protein_coding	uc010axc.1	nonsynonymous SNV	exon7	c.A9287G	p.D3096G	KGPKLDLKGPKTDVTAPDVEVSQPG	KGPKLDLKGPKTGVTAPDVEVSQPG	8.0	6.0	unscreened	-	4180_14:105412501-105412501 T>C_KGPKLDLKGPKTGVTAPDVEVSQPG
15:100739610-100739610 C>T	0.0	4180	BREAST	-	-	-	-	ADAMTS17	ENST00000268070,p.G365D|NM_139057,p.G365D|uc002bvv.1,p.G365D|uc002bvx.1,p.G122D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bvx.1	nonsynonymous SNV	exon7	c.G365A	p.G122D	EPCDTVGIAYLGGVCSAKRKCVLAE	EPCDTVGIAYLGDVCSAKRKCVLAE	3.0	6.0	unscreened	-	4180_15:100739610-100739610 C>T_EPCDTVGIAYLGDVCSAKRKCVLAE
14:24045483-24045483 C>T	0.0	4180	BREAST	-	-	-	-	JPH4	uc001wks.2,p.A188T|ENST00000356300,p.A188T|uc001wkq.2,p.A188T|NM_032452,p.A188T|uc001wkr.2,p.A188T|NM_001146028,p.A188T|ENST00000397118,p.A188T	retained_intron, protein_coding	uc001wks.2	nonsynonymous SNV	exon3	c.G562A	p.A188T	PLPLPGDEGGSPASGSRGGFVLAGP	PLPLPGDEGGSPTSGSRGGFVLAGP	3.0	3.0	unscreened	-	4180_14:24045483-24045483 C>T_PLPLPGDEGGSPTSGSRGGFVLAGP
20:57428515-57428515 C>T	0.0	4180	BREAST	-	-	ID=COSM1028477;OCCURENCE=1(endometrium)	1	GNAS	NM_001077490,p.A3V	retained_intron, protein_coding, processed_transcript	NM_001077490	nonsynonymous SNV	exon1	c.C8T	p.A3V	MMARPVDPQRSPDPT	MMVRPVDPQRSPDPT	10.0	5.0	unscreened	-	4180_20:57428515-57428515 C>T_MMVRPVDPQRSPDPT
2:88082757-88082757 A>T	0.0	4180	BREAST	-	-	-	-	RGPD1,RGPD2	NM_001078170,p.D1262E|ENST00000327544,p.D519E|ENST00000420840,p.D1254E|uc010fhc.2,p.D1262E|uc021vkn.1,p.D1254E|uc002ssm.1,p.D519E|NM_001024457,p.D1254E|ENST00000398146,p.D1262E	protein_coding, processed_transcript	uc021vkn.1	nonsynonymous SNV	exon20	c.T3762A	p.D1254E	ALDDNVSSSSVHDSPLASSPVRKNI	ALDDNVSSSSVHESPLASSPVRKNI	5.0	7.0	unscreened	-	4180_2:88082757-88082757 A>T_ALDDNVSSSSVHESPLASSPVRKNI
17:59668091-59668091 C>T	0.0	4180	BREAST	0.0005	-	-	-	NACA2	ENST00000521764,p.G151R|NM_199290,p.G151R|uc002izj.2,p.G151R	protein_coding	uc002izj.2	nonsynonymous SNV	exon1	c.G451A	p.G151R	AAEKFRVQGEAVGNIQENTQTPTVQ	AAEKFRVQGEAVRNIQENTQTPTVQ	4.0	7.0	unscreened	-	4180_17:59668091-59668091 C>T_AAEKFRVQGEAVRNIQENTQTPTVQ
7:100634828-100634828 G>T	0.0	4180	BREAST	-	-	-	-	MUC12	NM_001164462,p.E328D|ENST00000536621,p.E328D|ENST00000379442,p.E471D|uc003uxo.3,p.E328D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.G984T	p.E328D	HFSASSTTLGHSEESTPVHSSPVAT	HFSASSTTLGHSDESTPVHSSPVAT	1.0	4.0	unscreened	-	4180_7:100634828-100634828 G>T_HFSASSTTLGHSDESTPVHSSPVAT
17:74288502-74288502 T>C	0.0	4180	BREAST	-	rs143901735	-	-	QRICH2	uc002jrd.1,p.H603R|NM_032134,p.H603R|ENST00000262765,p.H603R	protein_coding, nonsense_mediated_decay	uc002jrd.1	nonsynonymous SNV	exon4	c.A1808G	p.H603R	DQRGLVQPGADQHGLVQPGVDQHGL	DQRGLVQPGADQRGLVQPGVDQHGL	6.0	7.0	unscreened	-	4180_17:74288502-74288502 T>C_DQRGLVQPGADQRGLVQPGVDQHGL
22:51183253-51183253 G>A	0.0	4180	BREAST	-	-	-	-	ACR	NM_001097,p.R295H|uc003bnh.4,p.R295H|ENST00000216139,p.R295H	retained_intron, protein_coding, processed_transcript	uc003bnh.4	nonsynonymous SNV	exon5	c.G884A	p.R295H	NWIASKIGSNALRMIQSATPPPPTT	NWIASKIGSNALHMIQSATPPPPTT	3.0	6.0	unscreened	-	4180_22:51183253-51183253 G>A_NWIASKIGSNALHMIQSATPPPPTT
22:29708273-29708273 G>-	0.0	4180	BREAST	-	-	ID=COSM1415499;OCCURENCE=3(large_intestine)	-	GAS2L1	uc003afc.1,p.M610fs|NM_001278730,p.M384fs|uc010gvm.1,p.M384fs|ENST00000406549,p.M384fs|uc003afa.1,p.M610fs	retained_intron, protein_coding	uc010gvm.1	frameshift deletion	exon6	c.1152delG	p.M384fs	SSSSDEGSPCPGMGGPLDAPGSPLA	SSSSDEGSPCPGMGGH	9.0	3.0	unscreened	-	4180_22:29708273-29708273 G>-_SSSSDEGSPCPGMGGH
17:40011270-40011271 TC>-	0.0	4180	BREAST	-	-	ID=COSM1383264;OCCURENCE=2(large_intestine)	-	KLHL11	ENST00000319121,p.R283fs|uc002hyf.1,p.R283fs|NM_018143,p.R283fs	protein_coding	uc002hyf.1	frameshift deletion	exon2	c.848_849del	p.R283fs	LKWVQRNAEERERYFEELFKLLRLS	LKWVQRNAEEREIL	5.0	5.0	unscreened	-	4180_17:40011270-40011271 TC>-_LKWVQRNAEEREIL
6:39159385-39159385 G>A	0.0	4180	BREAST	-	-	-	-	KCNK5	ENST00000359534,p.R261W|NM_003740,p.R261W|uc003oon.3,p.R261W	protein_coding	uc003oon.3	nonsynonymous SNV	exon5	c.C781T	p.R261W	FVEVHKAIKKRRRRRKESFESSPHS	FVEVHKAIKKRRWRRKESFESSPHS	5.0	6.0	unscreened	-	4180_6:39159385-39159385 G>A_FVEVHKAIKKRRWRRKESFESSPHS
1:169364386-169364386 ->TC	0.0	4180	BREAST	-	-	-	-	CCDC181	NM_021179,p.T476fs|NM_001300968,p.T476fs|uc009wvq.1,p.T476fs|ENST00000545005,p.T476fs|ENST00000367805,p.T476fs|uc001gga.1,p.T477fs|NM_001300969,p.T477fs|uc001gfz.1,p.T476fs|ENST00000367806,p.T477fs	protein_coding, processed_transcript	uc009wvq.1	frameshift insertion	exon7	c.1425_1426insGA	p.T476fs	EKMAEQQAVRERTRQLRLEAKRSKQ	EKMAEQQAVRERELDSSD	3.0	4.0	unscreened	-	4180_1:169364386-169364386 ->TC_EKMAEQQAVRERELDSSD
2:55176077-55176077 A>-	0.0	4180	BREAST	-	-	ID=COSM1408598;OCCURENCE=4(large_intestine)	-	EML6	NM_001039753,p.K1355fs|uc002ryb.4,p.K1355fs|ENST00000356458,p.K1355fs	retained_intron, protein_coding, processed_transcript	uc002ryb.4	frameshift deletion	exon28	c.4063delA	p.K1355fs	PQPEKLQKNNITKKKKLVEELALDH	PQPEKLQKNNITKKRNWLRSWL	1.0	5.0	unscreened	-	4180_2:55176077-55176077 A>-_PQPEKLQKNNITKKRNWLRSWL
7:100683414-100683414 G>C	0.0	4180	BREAST	-	-	-	-	MUC17	uc003uxp.1,p.G2906A|NM_001040105,p.G2906A|ENST00000306151,p.G2906A|ENST00000379439,p.G2906A	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.G8717C	p.G2906A	VDTSIPVTTSTEGSSSPTTAEGTSM	VDTSIPVTTSTEASSSPTTAEGTSM	1.0	5.0	unscreened	-	4180_7:100683414-100683414 G>C_VDTSIPVTTSTEASSSPTTAEGTSM
3:123008779-123008779 C>T	0.0	4180	BREAST	-	-	-	-	ADCY5	uc003egh.2,p.R1117Q|uc021xdd.1,p.R767Q|NM_183357,p.R1117Q|uc003egg.2,p.R775Q|NM_001199642,p.R767Q|ENST00000491190,p.R775Q|ENST00000309879,p.R767Q|ENST00000462833,p.R1117Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xdd.1	nonsynonymous SNV	exon19	c.G2300A	p.R767Q	ADFDEIISEDRFRQLEKIKTIGSTY	ADFDEIISEDRFQQLEKIKTIGSTY	3.0	6.0	unscreened	-	4180_3:123008779-123008779 C>T_ADFDEIISEDRFQQLEKIKTIGSTY
5:158630642-158630642 T>C	1.0	4180	BREAST	-	-	ID=COSM1065119;OCCURENCE=1(endometrium),1(large_intestine)	-	RNF145	uc011dea.2,p.K11R	retained_intron, protein_coding, processed_transcript	uc011dea.2	nonsynonymous SNV	exon2	c.A32G	p.K11R	MAEVFSKKKKKKKKNNMAAKEKL	MAEVFSKKKKRKKKNNMAAKEKL	8.0	8.0	unscreened	-	4180_5:158630642-158630642 T>C_MAEVFSKKKKRKKKNNMAAKEKL
12:119968790-119968790 A>-	0.0	4180	BREAST	-	-	-	-	CCDC60	NM_178499,p.R491fs|uc001txe.3,p.R491fs|ENST00000327554,p.R491fs	protein_coding, processed_transcript	uc001txe.3	frameshift deletion	exon13	c.1473delA	p.R491fs	LQKFGENLDLRIRPHVLLKVLQDLR	LQKFGENLDLRIRPMSS	1.0	5.0	unscreened	-	4180_12:119968790-119968790 A>-_LQKFGENLDLRIRPMSS
3:39227535-39227535 C>-	0.0	4180	BREAST	-	-	-	-	XIRP1	uc021wvz.1,p.G1134fs|ENST00000340369,p.G1134fs|uc003cjk.2,p.G1134fs|NM_194293,p.G1134fs	protein_coding	uc021wvz.1	frameshift deletion	exon1	c.3402delG	p.G1134fs	REEQALPRGLPGGWVTIQDGIYTAH	REEQALPRGLPGGG	3.0	2.0	unscreened	-	4180_3:39227535-39227535 C>-_REEQALPRGLPGGG
7:82763789-82763789 T>-	0.0	4180	BREAST	-	-	ID=COSM1452431,COSM1452430,COSM1452429;OCCURENCE=1(large_intestine)	-	PCLO	uc003uhx.2,p.K1026fs|uc003uhv.2,p.K1026fs|NM_014510,p.K1026fs|NM_033026,p.K1026fs|ENST00000333891,p.K1026fs|ENST00000423517,p.K1026fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	frameshift deletion	exon3	c.3077delA	p.K1026fs	QAPTVKRTETEKKPPPIKDSKSLTA	QAPTVKRTETEKSHHLLRIANL	4.0	5.0	unscreened	-	4180_7:82763789-82763789 T>-_QAPTVKRTETEKSHHLLRIANL
7:92191675-92191675 ->T	1.0	4180	BREAST	-	-	-	-	FAM133B	ENST00000427372,p.T212fs|NM_001040057,p.T212fs|ENST00000438306,p.T212fs|NM_001288584,p.T212fs|uc003umc.3,p.T222fs|NM_152789,p.T222fs|uc003umb.3,p.T212fs|ENST00000445716,p.T222fs	retained_intron, protein_coding, nonsense_mediated_decay	uc003umc.3	frameshift insertion	exon11	c.664dupA	p.T222fs	KSSEEREKATEKTKKKKKHKKHSKK	KSSEEREKATEKNKKEKEA	10.0	7.0	unscreened	-	4180_7:92191675-92191675 ->T_KSSEEREKATEKNKKEKEA
2:48132691-48132693 GCT>-	1.0	4180	BREAST	-	-	-	1	FBXO11	ENST00000403359,p.56_57del|NM_001190274,p.56_57del|uc002rwe.3,p.56_57del|uc002rwg.2,p.56_57del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002rwg.2	nonframeshift deletion	exon1	c.167_169del	p.56_57del	QPPPPPQQQQQQQPPPPPPPPPPLP	QPPPPPQQQQQQPPPPPPPPPPLPQ	8.0	5.0	unscreened	-	4180_2:48132691-48132693 GCT>-_QPPPPPQQQQQQPPPPPPPPPPLPQ
7:102969491-102969491 T>C	0.0	4180	BREAST	-	-	-	-	DNAJC2	ENST00000420236,p.Y402H|uc011kll.1,p.Y402H	retained_intron, protein_coding, nonsense_mediated_decay	uc011kll.1	nonsynonymous SNV	exon13	c.T1204C	p.Y402H	YVNILLPQPQPQYV	YVNILLPQPQPQHV	9.0	7.0	unscreened	-	4180_7:102969491-102969491 T>C_YVNILLPQPQPQHV
22:31284253-31284253 A>C	0.0	4180	BREAST	-	-	-	-	OSBP2	uc011ala.1,p.E283D|ENST00000424224,p.E82D|ENST00000382310,p.E448D|ENST00000446658,p.E448D|ENST00000437268,p.E190D|ENST00000452656,p.E79D|uc003aja.1,p.E82D|uc003aiz.1,p.E448D|ENST00000332585,p.E448D|uc011alb.1,p.E448D|ENST00000403222,p.E283D|NM_001282740,p.E82D|NM_030758,p.E448D|NM_001282741,p.E190D|NM_001282738,p.E283D|uc011alc.2,p.E190D|uc003aiy.1,p.E448D|NM_001282739,p.E448D|uc010gwc.1,p.E275D|ENST00000401475,p.E82D|ENST00000407373,p.E275D	protein_coding, processed_transcript	uc011alc.2	nonsynonymous SNV	exon4	c.A570C	p.E190D	LLTPKGEDSEEDEDTEYFDAMEDST	LLTPKGEDSEEDDDTEYFDAMEDST	3.0	3.0	unscreened	-	4180_22:31284253-31284253 A>C_LLTPKGEDSEEDDDTEYFDAMEDST
1:45887400-45887400 A>G	0.0	4180	BREAST	-	-	-	-	TESK2	uc010olp.1,p.L114P	protein_coding, processed_transcript	uc010olp.1	nonsynonymous SNV	exon3	c.T341C	p.L114P	VQLMNRLSHPNILRS	VQLMNRLSHPNIPRS	4.0	6.0	unscreened	-	4180_1:45887400-45887400 A>G_VQLMNRLSHPNIPRS
1:211307287-211307287 T>A	0.0	4180	BREAST	-	-	-	-	KCNH1	uc001hic.2,p.M1L|ENST00000271751,p.M1L|uc001hib.2,p.M1L|ENST00000367007,p.M1L|NM_002238,p.M1L|NM_172362,p.M1L	protein_coding	uc001hic.2	nonsynonymous SNV	exon1	c.A1T	p.M1L	MTMAGGRRGLVAP	LTMAGGRRGLVAP	1.0	7.0	unscreened	-	4180_1:211307287-211307287 T>A_LTMAGGRRGLVAP
X:8764320-8764320 T>-	0.0	4180	BREAST	-	-	ID=COSM1469808;OCCURENCE=2(large_intestine)	-	FAM9A	uc022bsk.1,p.K159fs|NM_174951,p.K159fs|ENST00000381003,p.K159fs|NM_001171186,p.K159fs|uc004csg.3,p.K159fs|ENST00000543214,p.K159fs	protein_coding	uc022bsk.1	frameshift deletion	exon6	c.477delA	p.K159fs	KTKNTIERALKKKQLKRQKRDYRHT	KTKNTIERALKKNN	1.0	2.0	unscreened	-	4180_X:8764320-8764320 T>-_KTKNTIERALKKNN
8:73480397-73480397 A>-	0.0	4180	BREAST	-	-	ID=COSM253011;OCCURENCE=1(stomach),7(large_intestine),1(pancreas),1(ovary)	-	KCNB2	NM_004770,p.Q143fs|uc003xzb.3,p.Q143fs|ENST00000523207,p.Q143fs	protein_coding	uc003xzb.3	frameshift deletion	exon2	c.428delA	p.Q143fs	IYLESCCQARYHQKKEQMNEELRRE	IYLESCCQARYHQKKNK	2.0	8.0	unscreened	-	4180_8:73480397-73480397 A>-_IYLESCCQARYHQKKNK
5:26903874-26903874 T>C	0.0	4180	BREAST	-	-	-	-	CDH9	uc003jgs.1,p.K291E|uc010iug.3,p.K291E|NM_016279,p.K291E|ENST00000231021,p.K291E	retained_intron, protein_coding	uc010iug.3	nonsynonymous SNV	exon6	c.A871G	p.K291E	ESVPLGTHLGRIKANDPDVGENAEM	ESVPLGTHLGRIEANDPDVGENAEM	1.0	3.0	unscreened	-	4180_5:26903874-26903874 T>C_ESVPLGTHLGRIEANDPDVGENAEM
1:152324209-152324209 C>G	0.0	4180	BREAST	-	-	-	-	FLG2	NM_001014342,p.R2018T|uc001ezw.4,p.R2018T|ENST00000388718,p.R2018T	protein_coding	uc001ezw.4	nonsynonymous SNV	exon3	c.G6053C	p.R2018T	RHGHSGHGQSTQRGSRTTGRRASGH	RHGHSGHGQSTQTGSRTTGRRASGH	1.0	3.0	unscreened	-	4180_1:152324209-152324209 C>G_RHGHSGHGQSTQTGSRTTGRRASGH
1:173842688-173842688 A>C	0.0	4180	BREAST	-	-	-	-	ZBTB37	NM_001122770,p.K336T|uc009wwp.1,p.K336T|ENST00000490000,p.K336T|ENST00000427304,p.K336T|uc001gjr.2,p.K336T|ENST00000367701,p.K336T	protein_coding, nonsense_mediated_decay	uc009wwp.1	nonsynonymous SNV	exon4	c.A1007C	p.K336T	ARSESPGRMDEPKQPSSQVEESAMM	ARSESPGRMDEPTQPSSQVEESAMM	5.0	7.0	unscreened	-	4180_1:173842688-173842688 A>C_ARSESPGRMDEPTQPSSQVEESAMM
6:30954845-30954845 A>T	0.0	4180	BREAST	-	-	-	-	MUC21	uc021yuf.1,p.N282I|NM_001010909,p.N298I|ENST00000376296,p.N298I|uc003nsh.2,p.N298I	protein_coding	uc021yuf.1	nonsynonymous SNV	exon1	c.A845T	p.N282I	TNSESSTPSSGANTATNSESSTTSS	TNSESSTPSSGAITATNSESSTTSS	2.0	7.0	unscreened	-	4180_6:30954845-30954845 A>T_TNSESSTPSSGAITATNSESSTTSS
6:30918208-30918208 T>C	0.0	4180	BREAST	-	-	-	-	DPCR1	NM_080870,p.F656S|ENST00000462446,p.F656S|uc003nsg.2,p.F656S	protein_coding	uc003nsg.2	nonsynonymous SNV	exon2	c.T1967C	p.F656S	NREMTANEKTTLFPAEPTENRERTA	NREMTANEKTTLSPAEPTENRERTA	1.0	3.0	unscreened	-	4180_6:30918208-30918208 T>C_NREMTANEKTTLSPAEPTENRERTA
1:151491005-151491005 G>A	0.0	4180	BREAST	-	-	-	-	CGN	ENST00000505188,p.A4T|NM_020770,p.A4T|ENST00000427934,p.A4T|uc009wmw.3,p.A4T|ENST00000271636,p.A4T|ENST00000502442,p.A4T	retained_intron, protein_coding	uc009wmw.3	nonsynonymous SNV	exon2	c.G10A	p.A4T	MEQAPNMAEPRGPVDH	MEQTPNMAEPRGPVDH	8.0	5.0	unscreened	-	4180_1:151491005-151491005 G>A_MEQTPNMAEPRGPVDH
7:6797472-6797472 T>C	0.0	4180	BREAST	-	-	-	-	RSPH10B,RSPH10B2	ENST00000297186,p.V55A|uc010ktk.1,p.V55A|ENST00000404077,p.V55A|ENST00000403107,p.V55A|ENST00000433859,p.V55A|NM_173565,p.V55A|uc003sqw.1,p.V55A|NM_001099697,p.V55A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ktk.1	nonsynonymous SNV	exon2	c.T164C	p.V55A	AGVPLLGMQLNEVKPKKDRQNVQQN	AGVPLLGMQLNEAKPKKDRQNVQQN	3.0	6.0	unscreened	-	4180_7:6797472-6797472 T>C_AGVPLLGMQLNEAKPKKDRQNVQQN
2:201435998-201435998 A>G	1.0	4180	BREAST	-	-	-	-	SGOL2	uc010zhd.1,p.E310G|uc002uvw.2,p.E310G|NM_001160046,p.E310G|ENST00000357799,p.E310G|NM_152524,p.E310G|NM_001160033,p.E310G|uc010zhe.1,p.E310G	retained_intron, protein_coding, processed_transcript	uc010zhe.1	nonsynonymous SNV	exon7	c.A929G	p.E310G	QHISSPELNCNNEINGHTNETNTEM	QHISSPELNCNNGINGHTNETNTEM	7.0	7.0	unscreened	-	4180_2:201435998-201435998 A>G_QHISSPELNCNNGINGHTNETNTEM
X:70603000-70603000 A>-	0.0	4180	BREAST	-	-	-	-	TAF1	NM_004606,p.K665fs|uc004dzt.4,p.K665fs|ENST00000423759,p.K665fs|ENST00000449580,p.K644fs|uc004dzu.4,p.K644fs|ENST00000276072,p.K665fs|NM_001286074,p.K665fs|ENST00000373790,p.K644fs|NM_138923,p.K644fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004dzu.4	frameshift deletion	exon12	c.1930delA	p.K644fs	GPHSVQPLLKHIKKKAKMREQERQA	GPHSVQPLLKHIKKRPR	8.0	6.0	unscreened	-	4180_X:70603000-70603000 A>-_GPHSVQPLLKHIKKRPR
20:3565359-3565359 A>G	0.0	4180	BREAST	-	-	-	-	ATRN	uc021vzz.1,p.T890A|uc002wim.2,p.T1006A|ENST00000262919,p.T1006A|NM_001207047,p.T890A|NM_139322,p.T1006A|uc002wil.2,p.T1006A|ENST00000446916,p.T1006A|NM_139321,p.T1006A	protein_coding	uc021vzz.1	nonsynonymous SNV	exon18	c.A2668G	p.T890A	SHCLEQPGCGWCTDPSNTGKGKCIE	SHCLEQPGCGWCADPSNTGKGKCIE	7.0	6.0	unscreened	-	4180_20:3565359-3565359 A>G_SHCLEQPGCGWCADPSNTGKGKCIE
1:74575213-74575213 T>-	0.0	4180	BREAST	-	-	ID=COSM1344232;OCCURENCE=4(large_intestine)	-	LRRIQ3	ENST00000370909,p.K136fs|ENST00000395089,p.K244fs|NM_001105659,p.K244fs|uc001dfy.4,p.K244fs|ENST00000354431,p.K244fs|ENST00000415760,p.K244fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001dfy.4	frameshift deletion	exon5	c.732delA	p.K244fs	RKNLSPVFFHKKKQQEKIIRGYEAK	RKNLSPVFFHKKNSRKKLLEDMKQNGFT	4.0	7.0	unscreened	-	4180_1:74575213-74575213 T>-_RKNLSPVFFHKKNSRKKLLEDMKQNGFT
16:70211337-70211337 C>T	0.0	4180	BREAST	-	-	ID=COSM972983;OCCURENCE=1(endometrium)	-	CLEC18C	uc002eyk.3,p.A137V|ENST00000314151,p.A137V|ENST00000541793,p.A137V|ENST00000569347,p.A137V|NM_173619,p.A137V|ENST00000536907,p.A137V	retained_intron, protein_coding, processed_transcript	uc002eyk.3	nonsynonymous SNV	exon3	c.C410T	p.A137V	SLWFAEGQRYSHAAGECARNATCTH	SLWFAEGQRYSHVAGECARNATCTH	1.0	7.0	unscreened	-	4180_16:70211337-70211337 C>T_SLWFAEGQRYSHVAGECARNATCTH
7:107664504-107664504 ->T	0.0	4180	BREAST	-	-	-	-	LAMB4	uc003vey.2,p.Y1756fs|ENST00000388781,p.Y1756fs|uc010ljo.1,p.Y1756fs|ENST00000205386,p.Y1756fs|NM_007356,p.Y1756fs	retained_intron, protein_coding, processed_transcript	uc010ljo.1	frameshift insertion	exon34	c.5265dupA	p.Y1756fs	AIKNEIVEQEKKYARCYS	AIKNEIVEQEKKIC	1.0	8.0	unscreened	-	4180_7:107664504-107664504 ->T_AIKNEIVEQEKKIC
15:85681109-85681109 G>A	1.0	4180	BREAST	-	-	-	-	PDE8A	uc021stv.1,p.R750Q|NM_002605,p.R822Q|uc002blk.3,p.R442Q|uc002blh.3,p.R822Q|uc002blj.3,p.R442Q|uc002bli.3,p.R776Q|ENST00000557957,p.R750Q|NM_001243137,p.R750Q|ENST00000394553,p.R822Q|ENST00000310298,p.R822Q|ENST00000339708,p.R776Q|uc002bll.3,p.R174Q|NM_173454,p.R776Q|uc010bnd.3,p.R575Q|uc010bnc.3,p.R575Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021stv.1	nonsynonymous SNV	exon22	c.G2249A	p.R750Q	FKYWKGLDEMKLRNLRPPPE	FKYWKGLDEMKLQNLRPPPE	9.0	6.0	-	-	4180_15:85681109-85681109 G>A_FKYWKGLDEMKLQNLRPPPE
2:1946936-1946936 ->C	0.0	4180	BREAST	-	-	-	-	MYT1L	ENST00000399161,p.E108fs|uc002qxe.3,p.E108fs|uc002qxd.3,p.E108fs|ENST00000428368,p.E108fs|NM_015025,p.E108fs	retained_intron, protein_coding, processed_transcript	uc002qxe.3	frameshift insertion	exon9	c.322dupG	p.E108fs	TEDMDEKEEDEGEEYSEDNDEPGDE	TEDMDEKEEDEGGGVLRGQ	1.0	3.0	unscreened	-	4180_2:1946936-1946936 ->C_TEDMDEKEEDEGGGVLRGQ
2:128252502-128252502 T>-	0.0	4180	BREAST	-	-	-	-	IWS1	NM_017969,p.K582fs|uc002ton.2,p.K582fs|ENST00000295321,p.K582fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ton.2	frameshift deletion	exon8	c.1745delA	p.K582fs	AAEEDRQLNNQKKPALKKLTLLPAV	AAEEDRQLNNQKSQH	8.0	7.0	unscreened	-	4180_2:128252502-128252502 T>-_AAEEDRQLNNQKSQH
4:83849373-83849373 T>C	1.0	4180	BREAST	-	-	-	-	LIN54	NM_001115008,p.K490R|uc003hny.3,p.K310R|ENST00000506560,p.K622R|ENST00000505397,p.K711R|uc010ijt.2,p.K622R|ENST00000442461,p.K490R|ENST00000340417,p.K711R|ENST00000446851,p.K490R|uc003hnx.3,p.K711R|ENST00000510557,p.K490R|uc010ijv.2,p.K490R|ENST00000395283,p.K622R|NM_194282,p.K711R|NM_001115007,p.K490R|NM_001288996,p.K622R|uc010iju.2,p.K310R|uc003hnz.3,p.K490R|NM_001288997,p.K490R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ijv.2	nonsynonymous SNV	exon13	c.A1469G	p.K490R	NCLLAQAEQADKKGKSKAAAERMIL	NCLLAQAEQADKRGKSKAAAERMIL	7.0	6.0	unscreened	-	4180_4:83849373-83849373 T>C_NCLLAQAEQADKRGKSKAAAERMIL
1:1116223-1116223 G>-	0.0	4180	BREAST	-	-	ID=COSM1167754;OCCURENCE=1(skin),8(large_intestine),1(oesophagus)	-	TTLL10	uc010nyg.1,p.P246fs|NM_153254,p.P173fs|ENST00000379288,p.P173fs|uc001acy.2,p.P246fs|ENST00000379290,p.P246fs|ENST00000379289,p.P246fs|NM_001130045,p.P246fs|uc001acz.2,p.P173fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010nyg.1	frameshift deletion	exon8	c.738delG	p.P246fs	GRARAMSKASKVPGGVQARLEKDAA	GRARAMSKASKVPGGSRPGWKRTQQRPPWRTSRGQAQDTSGHRGS	3.0	6.0	unscreened	-	4180_1:1116223-1116223 G>-_GRARAMSKASKVPGGSRPGWKRTQQRPPWRTSRGQAQDTSGHRGS
9:141015133-141015133 G>T	0.0	4180	BREAST	-	-	-	-	CACNA1B	ENST00000371357,p.G2096C|NM_000718,p.G2097C|uc031tfy.1,p.G2097C|ENST00000277549,p.G1291C|uc031tfz.1,p.G2097C|NM_001243812,p.G2097C|ENST00000277551,p.G2097C|ENST00000371355,p.G2098C|uc004coi.3,p.G1309C|ENST00000371372,p.G2097C|ENST00000371363,p.G2095C	protein_coding	uc031tfz.1	nonsynonymous SNV	exon46	c.G6289T	p.G2097C	VGPGLPPGEGPTGCRRERERRQERG	VGPGLPPGEGPTCCRRERERRQERG	1.0	7.0	unscreened	-	4180_9:141015133-141015133 G>T_VGPGLPPGEGPTCCRRERERRQERG
1:26671339-26671339 A>C	0.0	4180	BREAST	-	-	-	-	AIM1L	uc001bmd.4,p.C604G|NM_001039775,p.C604G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001bmd.4	nonsynonymous SNV	exon2	c.T1810G	p.C604G	SSPTQKEVVKGPCAPAASSPTQKEV	SSPTQKEVVKGPGAPAASSPTQKEV	5.0	3.0	unscreened	-	4180_1:26671339-26671339 A>C_SSPTQKEVVKGPGAPAASSPTQKEV
16:2229038-2229040 GCG>-	0.0	4180	BREAST	-	-	-	-	CASKIN1	NM_020764,p.1354_1355del|ENST00000343516,p.1354_1355del|uc010bsg.1,p.1354_1355del	retained_intron, protein_coding, processed_transcript	uc010bsg.1	nonframeshift deletion	exon19	c.4062_4064del	p.1354_1355del	PPRAAAAAAAAAAAPPAPPEGASPG	PPRAAAAAAAAAAPPAPPEGASPGD	3.0	7.0	unscreened	-	4180_16:2229038-2229040 GCG>-_PPRAAAAAAAAAAPPAPPEGASPGD
10:78729786-78729786 T>-	0.0	4180	BREAST	-	-	ID=COSM1349216,COSM1722124,COSM111466;OCCURENCE=1(NS),1(ovary),3(large_intestine)	-	KCNMA1	ENST00000354353,p.K772fs|NM_001271519,p.K714fs|uc001jxj.2,p.K715fs|ENST00000404857,p.K711fs|uc001jxm.3,p.K711fs|uc021ptu.1,p.K661fs|NM_001161352,p.K769fs|uc001jxl.1,p.K394fs|uc009xrt.1,p.K560fs|ENST00000372440,p.K711fs|NM_002247,p.K711fs|NM_001014797,p.K715fs|uc001jxn.3,p.K769fs|ENST00000457953,p.K743fs|ENST00000604624,p.K576fs|NM_001271518,p.K661fs|uc001jxq.3,p.K714fs|ENST00000406533,p.K773fs|ENST00000372443,p.K711fs|NM_001161353,p.K711fs|ENST00000286627,p.K711fs|uc001jxk.1,p.K387fs|ENST00000372408,p.K648fs|ENST00000404771,p.K769fs|ENST00000286628,p.K769fs|uc001jxo.3,p.K711fs|ENST00000372437,p.K704fs	protein_coding, processed_transcript	uc021ptu.1	frameshift deletion	exon19	c.1982delA	p.K661fs	EDEQPSTLSPKKKQRNGGMRNSPNT	EDEQPSTLSPKKSNGMEACGTHPTPRLS	5.0	5.0	unscreened	-	4180_10:78729786-78729786 T>-_EDEQPSTLSPKKSNGMEACGTHPTPRLS
8:55541179-55541179 A>-	0.0	4180	BREAST	-	-	-	-	RP1	uc003xsd.1,p.L1579fs|ENST00000220676,p.L1579fs|NM_006269,p.L1579fs	protein_coding	uc003xsd.1	frameshift deletion	exon4	c.4737delA	p.L1579fs	METGSYSESSPDLKKCIKSPVTSDW	METGSYSESSPDLKNASKVQ	1.0	7.0	unscreened	-	4180_8:55541179-55541179 A>-_METGSYSESSPDLKNASKVQ
8:124384893-124384893 T>-	0.0	4180	BREAST	-	-	ID=COSM203096;OCCURENCE=1(large_intestine),1(liver),1(oesophagus),1(lung)	-	ATAD2	uc003yqh.4,p.K118fs|uc003yqj.3,p.K118fs|NM_014109,p.K118fs|ENST00000287394,p.K118fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yqj.3	frameshift deletion	exon3	c.354delA	p.K118fs	TRQLARQQADKKKEEHREDKVIPVT	TRQLARQQADKKKKSTEKTK	8.0	4.0	unscreened	-	4180_8:124384893-124384893 T>-_TRQLARQQADKKKKSTEKTK
6:24358064-24358064 C>T	0.0	4180	BREAST	-	-	-	-	KAAG1	NM_181337,p.A66V|uc003ndz.1,p.A66V|ENST00000274766,p.A66V	protein_coding	uc003ndz.1	nonsynonymous SNV	exon1	c.C197T	p.A66V	PPLSQRPHRTQGAGSPPETNEKLTN	PPLSQRPHRTQGVGSPPETNEKLTN	1.0	4.0	unscreened	-	4180_6:24358064-24358064 C>T_PPLSQRPHRTQGVGSPPETNEKLTN
12:50746740-50746740 T>G	0.0	4180	BREAST	-	-	-	-	FAM186A	uc010smt.1,p.N1070T|ENST00000543111,p.N1292T|ENST00000327337,p.N1292T|uc001rwl.2,p.N1292T|NM_001145475,p.N1292T	protein_coding, nonsense_mediated_decay	uc010smt.1	nonsynonymous SNV	exon1	c.A3209C	p.N1070T	TPKQAQELGIPLNPQQAQTLGIPLT	TPKQAQELGIPLTPQQAQTLGIPLT	1.0	5.0	unscreened	-	4180_12:50746740-50746740 T>G_TPKQAQELGIPLTPQQAQTLGIPLT
7:100676143-100676143 G>T	0.0	4180	BREAST	-	-	-	-	MUC17	ENST00000306151,p.Q482H|ENST00000379439,p.Q482H|NM_001040105,p.Q482H|uc003uxp.1,p.Q482H	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.G1446T	p.Q482H	SNLSTTPVDSKTQVTTSTEASSSPP	SNLSTTPVDSKTHVTTSTEASSSPP	1.0	5.0	unscreened	-	4180_7:100676143-100676143 G>T_SNLSTTPVDSKTHVTTSTEASSSPP
16:51176045-51176045 T>C	0.0	4180	BREAST	-	-	-	-	SALL1	ENST00000251020,p.K30E|NM_002968,p.K30E|uc021tie.1,p.K30E	protein_coding, processed_transcript	uc021tie.1	nonsynonymous SNV	exon2	c.A88G	p.K30E	VASLPRRDGDTEKGQPSRPTKSKDA	VASLPRRDGDTEEGQPSRPTKSKDA	1.0	3.0	unscreened	-	4180_16:51176045-51176045 T>C_VASLPRRDGDTEEGQPSRPTKSKDA
10:126138339-126138339 A>C	1.0	4180	BREAST	-	-	-	-	NKX1-2	ENST00000451024,p.D58E|NM_001146340,p.D58E|uc010quf.2,p.D58E|ENST00000440536,p.D58E	protein_coding	uc010quf.2	nonsynonymous SNV	exon1	c.T174G	p.D58E	ARKSLAEVEAGKDASSRDPVRQLET	ARKSLAEVEAGKEASSRDPVRQLET	6.0	4.0	unscreened	-	4180_10:126138339-126138339 A>C_ARKSLAEVEAGKEASSRDPVRQLET
6:30917534-30917534 C>A	0.0	4180	BREAST	-	-	-	-	DPCR1	ENST00000462446,p.N431K|NM_080870,p.N431K|uc003nsg.2,p.N431K	protein_coding	uc003nsg.2	nonsynonymous SNV	exon2	c.C1293A	p.N431K	ESTEHGERTPLANENTTPSPAEPTE	ESTEHGERTPLAKENTTPSPAEPTE	1.0	6.0	unscreened	-	4180_6:30917534-30917534 C>A_ESTEHGERTPLAKENTTPSPAEPTE
8:10755815-10755815 ->G	0.0	4180	BREAST	-	-	-	-	XKR6	ENST00000304437,p.D246fs|NM_173683,p.D525fs|uc003wtk.1,p.D525fs|ENST00000416569,p.D525fs	protein_coding, nonsense_mediated_decay	uc003wtk.1	frameshift insertion	exon3	c.1572dupC	p.D525fs	CAELLWGIPLPPDVEPMAPEIPGYR	CAELLWGIPLPPRC	4.0	7.0	unscreened	-	4180_8:10755815-10755815 ->G_CAELLWGIPLPPRC
3:195506366-195506366 G>C	0.0	4180	BREAST	-	-	-	2	MUC4	ENST00000470451,p.H4029D|ENST00000463781,p.H4029D|ENST00000475231,p.H4029D|ENST00000479406,p.H4029D|NM_018406,p.H4029D|ENST00000466475,p.H4029D|ENST00000477756,p.H4029D|uc021xjp.1,p.H4029D|ENST00000477086,p.H4029D|ENST00000462323,p.H4029D|ENST00000478156,p.H4029D|ENST00000480843,p.H4029D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C12085G	p.H4029D	LPVTSPSSASTGHATPVPVTSTSSA	LPVTSPSSASTGDATPVPVTSTSSA	2.0	6.0	unscreened	-	4180_3:195506366-195506366 G>C_LPVTSPSSASTGDATPVPVTSTSSA
18:9887041-9887041 T>A	0.0	4180	BREAST	-	-	-	-	TXNDC2	uc021ugx.1,p.S122T|uc002koi.4,p.S189T|NM_032243,p.S122T|NM_001098529,p.S189T|ENST00000357775,p.S122T|ENST00000306084,p.S189T|uc002koh.4,p.S122T	protein_coding, processed_transcript	uc021ugx.1	nonsynonymous SNV	exon1	c.T364A	p.S122T	GDIPKAPEETIQSKKEDLPKSSEEA	GDIPKAPEETIQTKKEDLPKSSEEA	1.0	5.0	unscreened	-	4180_18:9887041-9887041 T>A_GDIPKAPEETIQTKKEDLPKSSEEA
15:65983415-65983415 C>T	0.0	4180	BREAST	-	-	-	-	DENND4A	NM_001144823,p.E1172K|uc002aph.3,p.E1129K|ENST00000431932,p.E1129K|ENST00000443035,p.E1172K|uc002api.3,p.E1172K|NM_005848,p.E1129K|uc002apj.3,p.E1129K	retained_intron, protein_coding, processed_transcript	uc002apj.3	nonsynonymous SNV	exon22	c.G3385A	p.E1129K	SPVIFDLEDLDSETDVSKAGCVATQ	SPVIFDLEDLDSKTDVSKAGCVATQ	6.0	5.0	unscreened	-	4180_15:65983415-65983415 C>T_SPVIFDLEDLDSKTDVSKAGCVATQ
20:47858504-47858504 A>-	0.0	4180	BREAST	-	-	ID=COSM252989;OCCURENCE=2(large_intestine),1(ovary)	-	DDX27	uc002xuh.3,p.K689fs|ENST00000371764,p.K689fs|NM_017895,p.K689fs	protein_coding, processed_transcript	uc002xuh.3	frameshift deletion	exon17	c.2065delA	p.K689fs	GKKKRKKFMKDAKKKGEMTAEERSQ	GKKKRKKFMKDAKKRGR	10.0	3.0	unscreened	-	4180_20:47858504-47858504 A>-_GKKKRKKFMKDAKKRGR
7:92191675-92191675 ->T	1.0	4180	BREAST	-	-	-	-	FAM133B	uc022ahf.1,p.T206fs	retained_intron, protein_coding, nonsense_mediated_decay	uc022ahf.1	frameshift insertion	exon10	c.616dupA	p.T206fs	SLSESEYIEEEKTKKKKKHKKHSKK	SLSESEYIEEEKNKKEKEA	10.0	7.0	unscreened	-	4180_7:92191675-92191675 ->T_SLSESEYIEEEKNKKEKEA
19:49642956-49642956 C>A	0.0	4180	BREAST	-	-	-	-	PPFIA3	ENST00000602655,p.H629N	protein_coding	ENST00000602655	nonsynonymous SNV	exon16	c.C1885A	p.H629N	IKIMSLRRKLELHEGRGRPSQETPH	IKIMSLRRKLELNEGRGRPSQETPH	5.0	4.0	unscreened	-	4180_19:49642956-49642956 C>A_IKIMSLRRKLELNEGRGRPSQETPH
1:167666747-167666747 T>C	0.0	4180	BREAST	-	-	-	-	RCSD1	NM_052862,p.C296R|uc001gem.3,p.C296R|ENST00000367854,p.C296R|uc010pli.2,p.C266R|ENST00000537350,p.C266R	protein_coding, processed_transcript	uc010pli.2	nonsynonymous SNV	exon5	c.T796C	p.C266R	SPQTSGPEAENRCGSPREEKPAGEE	SPQTSGPEAENRRGSPREEKPAGEE	8.0	4.0	unscreened	-	4180_1:167666747-167666747 T>C_SPQTSGPEAENRRGSPREEKPAGEE
3:195510697-195510697 G>T	0.0	4180	BREAST	-	-	-	2	MUC4	ENST00000462323,p.A2585E|NM_018406,p.A2585E|ENST00000478156,p.A2585E|ENST00000477086,p.A2585E|ENST00000466475,p.A2585E|ENST00000463781,p.A2585E|ENST00000480843,p.A2585E|ENST00000470451,p.A2585E|ENST00000477756,p.A2585E|ENST00000479406,p.A2585E|ENST00000475231,p.A2585E|uc021xjp.1,p.A2585E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C7754A	p.A2585E	HATPLPVTSTSSASTGDTTPLPVTD	HATPLPVTSTSSESTGDTTPLPVTD	2.0	4.0	unscreened	-	4180_3:195510697-195510697 G>T_HATPLPVTSTSSESTGDTTPLPVTD
1:233337948-233337948 T>-	0.0	4180	BREAST	-	-	ID=COSM1601919;OCCURENCE=1(pancreas),1(liver)	-	PCNXL2	ENST00000430153,p.K270fs|uc001hvq.1,p.K270fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001hvq.1	frameshift deletion	exon8	c.809delA	p.K270fs	NSHKDFFTSEKKKDKIISAISSVIF	NSHKDFFTSEKKRTK	7.0	6.0	unscreened	-	4180_1:233337948-233337948 T>-_NSHKDFFTSEKKRTK
10:105813697-105813697 C>A	0.0	4180	BREAST	-	-	-	-	COL17A1	ENST00000369733,p.K605N|NM_000494,p.K605N|uc001kxr.3,p.K605N|ENST00000353479,p.K605N|uc010qqv.1,p.K589N	retained_intron, protein_coding, processed_transcript	uc010qqv.1	nonsynonymous SNV	exon21	c.G1767T	p.K589N	PGPLGHPGPQGPKGQKGSVGDPGME	PGPLGHPGPQGPNGQKGSVGDPGME	1.0	6.0	unscreened	-	4180_10:105813697-105813697 C>A_PGPLGHPGPQGPNGQKGSVGDPGME
5:1255457-1255457 G>A	0.0	4180	BREAST	-	-	-	1	TERT	uc021xwa.1,p.R97C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xwa.1	nonsynonymous SNV	exon2	c.C289T	p.R97C	SASLEEPHIFPARHL	SASLEEPHIFPACHL	1.0	7.0	unscreened	-	4180_5:1255457-1255457 G>A_SASLEEPHIFPACHL
21:34635228-34635228 G>A	0.0	4180	BREAST	-	-	-	-	IFNAR2	NM_207585,p.S324N|NM_001289125,p.S324N|ENST00000342136,p.S324N|ENST00000382241,p.S324N|uc002yre.3,p.S324N|uc002yrd.3,p.S324N	protein_coding, processed_transcript, nonsense_mediated_decay	uc002yre.3	nonsynonymous SNV	exon9	c.G971A	p.S324N	KVWDYNYDDESDSDTEAAPRTSGGG	KVWDYNYDDESDNDTEAAPRTSGGG	7.0	5.0	unscreened	-	4180_21:34635228-34635228 G>A_KVWDYNYDDESDNDTEAAPRTSGGG
8:10465204-10465204 G>T	0.0	4180	BREAST	-	-	-	-	RP1L1	NM_178857,p.P2135Q|uc003wtc.3,p.P2135Q|ENST00000382483,p.P2135Q	protein_coding, processed_transcript	uc003wtc.3	nonsynonymous SNV	exon4	c.C6404A	p.P2135Q	GEAQPESEGIEAPEAEGEAQPESEG	GEAQPESEGIEAQEAEGEAQPESEG	3.0	7.0	unscreened	-	4180_8:10465204-10465204 G>T_GEAQPESEGIEAQEAEGEAQPESEG
7:100676024-100676024 G>C	0.0	4180	BREAST	-	-	-	-	MUC17	uc003uxp.1,p.A443P|NM_001040105,p.A443P|ENST00000379439,p.A443P|ENST00000306151,p.A443P	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.G1327C	p.A443P	SSSPTTAEDTSIATSTPSEGSTPLT	SSSPTTAEDTSIPTSTPSEGSTPLT	1.0	6.0	unscreened	-	4180_7:100676024-100676024 G>C_SSSPTTAEDTSIPTSTPSEGSTPLT
6:30917110-30917110 G>A	0.0	4180	BREAST	-	-	-	-	DPCR1	uc003nsg.2,p.G290E|NM_080870,p.G290E|ENST00000462446,p.G290E	protein_coding	uc003nsg.2	nonsynonymous SNV	exon2	c.G869A	p.G290E	LTQSLAEPTEHGGRTANENNTPSPA	LTQSLAEPTEHGERTANENNTPSPA	1.0	6.0	unscreened	-	4180_6:30917110-30917110 G>A_LTQSLAEPTEHGERTANENNTPSPA
7:100684125-100684125 A>C	0.0	4180	BREAST	-	-	-	-	MUC17	NM_001040105,p.H3143P|uc003uxp.1,p.H3143P|ENST00000379439,p.H3143P|ENST00000306151,p.H3143P	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.A9428C	p.H3143P	DTSTPVTTSTEAHSSPTTSEGTSMP	DTSTPVTTSTEAPSSPTTSEGTSMP	1.0	5.0	unscreened	-	4180_7:100684125-100684125 A>C_DTSTPVTTSTEAPSSPTTSEGTSMP
5:145647320-145647320 A>-	0.0	4180	BREAST	-	-	ID=COSM253087;OCCURENCE=1(ovary),1(pancreas),11(large_intestine)	-	RBM27	ENST00000265271,p.K814fs|NM_018989,p.K814fs|uc003lny.2,p.K759fs|uc003lnz.4,p.K814fs|ENST00000506502,p.K759fs	retained_intron, protein_coding, processed_transcript	uc003lnz.4	frameshift deletion	exon15	c.2440delA	p.K814fs	SGSKSHDVQEVLKKKQEAMKLQQDM	SGSKSHDVQEVLKKNRKQ	8.0	4.0	unscreened	-	4180_5:145647320-145647320 A>-_SGSKSHDVQEVLKKNRKQ
8:57358248-57358248 C>T	0.0	4180	BREAST	-	-	-	-	PENK	ENST00000518770,p.A89T|uc010lym.3,p.A89T	retained_intron, protein_coding, processed_transcript	uc010lym.3	nonsynonymous SNV	exon3	c.G265A	p.A89T	VWRFAPGRSRSGASPW	VWRFAPGRSRSGTSPW	1.0	4.0	unscreened	-	4180_8:57358248-57358248 C>T_VWRFAPGRSRSGTSPW
10:75408400-75408400 T>C	0.0	4180	BREAST	-	-	-	-	SYNPO2L	uc001jut.4,p.E337G|NM_024875,p.E113G|uc001jus.4,p.E113G|ENST00000372872,p.E337G|ENST00000394810,p.E337G|NM_001114133,p.E337G|ENST00000372873,p.E113G	protein_coding	uc001jut.4	nonsynonymous SNV	exon4	c.A1010G	p.E337G	DGVPPTSESELDEEAFSDARSLTNQ	DGVPPTSESELDGEAFSDARSLTNQ	1.0	5.0	unscreened	-	4180_10:75408400-75408400 T>C_DGVPPTSESELDGEAFSDARSLTNQ
9:79836219-79836219 A>-	0.0	4180	BREAST	-	-	ID=COSM1192852,COSM1192850,COSM1192851;OCCURENCE=4(large_intestine),1(stomach)	-	VPS13A	uc004akp.4,p.K370fs|uc004aks.3,p.K370fs|ENST00000376636,p.K370fs|uc004akr.3,p.K370fs|ENST00000357409,p.K370fs|ENST00000376634,p.K370fs|NM_033305,p.K370fs|uc004akq.4,p.K370fs|ENST00000360280,p.K370fs|NM_001018038,p.K370fs|NM_015186,p.K370fs|NM_001018037,p.K370fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004aks.3	frameshift deletion	exon13	c.1108delA	p.K370fs	HRQKVKQYKELYKKKLTSKKPPGEL	HRQKVKQYKELYKKS	7.0	7.0	unscreened	-	4180_9:79836219-79836219 A>-_HRQKVKQYKELYKKS
X:106846420-106846420 G>C	0.0	4180	BREAST	-	-	-	-	FRMPD3	ENST00000276185,p.Q1750H|uc022cce.1,p.Q806H|NM_032428,p.Q1750H|ENST00000439554,p.Q1698H	protein_coding, processed_transcript	uc022cce.1	nonsynonymous SNV	exon1	c.G2418C	p.Q806H	RAAEESTARNLNQQQQQQQQQQQQQ	RAAEESTARNLNHQQQQQQQQQQQQ	4.0	4.0	unscreened	-	4180_X:106846420-106846420 G>C_RAAEESTARNLNHQQQQQQQQQQQQ
2:204000592-204000592 T>A	0.0	4180	BREAST	-	-	-	-	NBEAL1	NM_001114132,p.S1307T|uc002uzt.3,p.S1307T|ENST00000449802,p.S1307T	retained_intron, protein_coding, processed_transcript	uc002uzt.3	nonsynonymous SNV	exon27	c.T3919A	p.S1307T	DKNMSTEDTKKNSDEKTDEEKITSF	DKNMSTEDTKKNTDEKTDEEKITSF	8.0	5.0	unscreened	-	4180_2:204000592-204000592 T>A_DKNMSTEDTKKNTDEKTDEEKITSF
2:179543203-179543203 G>T	0.0	4180	BREAST	-	-	-	-	TTN	NM_133378,p.P10039H|NM_001256850,p.P10966H|ENST00000589042,p.P11283H|ENST00000342992,p.P10039H|uc031rqd.1,p.P10966H|uc002umz.1,p.P6700H|uc010fre.1,p.P696H|uc031rqc.1,p.P11283H|ENST00000591111,p.P10966H|uc021vsy.2,p.P10039H|NM_001267550,p.P11283H|ENST00000414766,p.P707H	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon142	c.C32897A	p.P10966H	APPAKVPEVPKKPVPEKKVPVPAPK	APPAKVPEVPKKHVPEKKVPVPAPK	2.0	6.0	unscreened	-	4180_2:179543203-179543203 G>T_APPAKVPEVPKKHVPEKKVPVPAPK
3:169511602-169511602 C>A	0.0	4180	BREAST	-	-	-	-	LRRC34	NM_001172779,p.G406C|NM_153353,p.G374C|uc003ffy.3,p.G406C|ENST00000522526,p.G374C|ENST00000446859,p.G406C|uc003ffx.3,p.G374C|ENST00000522830,p.G345C|ENST00000316515,p.G361C	retained_intron, protein_coding, processed_transcript	uc003ffy.3	nonsynonymous SNV	exon11	c.G1216T	p.G406C	ATCIAYSDLIQMGCLKPDNTDVEPF	ATCIAYSDLIQMCCLKPDNTDVEPF	3.0	7.0	unscreened	-	4180_3:169511602-169511602 C>A_ATCIAYSDLIQMCCLKPDNTDVEPF
4:87622606-87622606 ->A	0.0	4180	BREAST	-	-	ID=COSM1619184;OCCURENCE=1(liver)	1	PTPN13	ENST00000436978,p.E283fs|ENST00000411767,p.E283fs|uc003hpy.3,p.E283fs|uc003hqb.3,p.E283fs|uc003hqa.3,p.E283fs|NM_080683,p.E283fs|NM_006264,p.E283fs|ENST00000511467,p.E283fs|NM_080685,p.E283fs|uc003hpz.3,p.E283fs|ENST00000316707,p.E283fs|NM_080684,p.E283fs|ENST00000427191,p.E283fs	retained_intron, protein_coding	uc003hqb.3	frameshift insertion	exon7	c.848dupA	p.E283fs	TFSPYQFKTSGPEKKPIPGIDVLSK	TFSPYQFKTSGPEKKTHPWH	4.0	5.0	unscreened	-	4180_4:87622606-87622606 ->A_TFSPYQFKTSGPEKKTHPWH
X:130411114-130411114 G>-	0.0	4180	BREAST	-	-	-	-	IGSF1	ENST00000370910,p.H794fs|NM_001170961,p.H808fs|NM_001555,p.H803fs|ENST00000370904,p.H794fs|uc004ewe.4,p.H808fs|ENST00000361420,p.H803fs|NM_001170962,p.H794fs|uc004ewd.3,p.H803fs|uc004ewf.2,p.H783fs|uc022cdv.1,p.H794fs|ENST00000370903,p.H808fs	protein_coding, processed_transcript	uc022cdv.1	frameshift deletion	exon13	c.2380delC	p.H794fs	PGARVTFNCSTPHQHMSFILYKDGS	PGARVTFNCSTPTSI	1.0	5.0	unscreened	-	4180_X:130411114-130411114 G>-_PGARVTFNCSTPTSI
3:133099286-133099286 A>G	0.0	4180	BREAST	-	-	-	-	TMEM108	NM_023943,p.Y244C|NM_001136469,p.Y244C|uc003epi.3,p.Y244C|ENST00000515826,p.Y244C|ENST00000393130,p.Y244C|uc003epj.1,p.Y244C|uc003eph.3,p.Y244C|ENST00000321871,p.Y244C	retained_intron, protein_coding, processed_transcript	uc003epj.1	nonsynonymous SNV	exon3	c.A731G	p.Y244C	PSTLTPRTPLWGYSSSPQPQTVAAT	PSTLTPRTPLWGCSSSPQPQTVAAT	5.0	4.0	unscreened	-	4180_3:133099286-133099286 A>G_PSTLTPRTPLWGCSSSPQPQTVAAT
6:16327916-16327918 TGC>-	0.0	4180	BREAST	-	-	ID=COSM3718908;OCCURENCE=2(upper_aerodigestive_tract)	-	ATXN1	NM_001128164,p.208_209del|ENST00000436367,p.208_209del|NM_000332,p.208_209del|uc003nbt.3,p.208_209del|uc010jpi.3,p.208_209del|ENST00000244769,p.208_209del	protein_coding, processed_transcript	uc010jpi.3	nonframeshift deletion	exon7	c.624_626del	p.208_209del	EQQQQQQQQQQQQHQHQQQQQQQQQ	EQQQQQQQQQQQHQHQQQQQQQQQQ	7.0	4.0	unscreened	-	4180_6:16327916-16327918 TGC>-_EQQQQQQQQQQQHQHQQQQQQQQQQ
X:117700116-117700116 A>-	0.0	4180	BREAST	-	-	-	-	DOCK11	uc004eqp.2,p.E281fs|uc004eqq.2,p.E47fs|NM_144658,p.E281fs|ENST00000276202,p.E281fs|ENST00000276204,p.E281fs	protein_coding, processed_transcript	uc004eqq.2	frameshift deletion	exon2	c.140delA	p.E47fs	KIIQINTDSLVQEKKETVETAQDDE	KIIQINTDSLVQEKRRR	6.0	5.0	unscreened	-	4180_X:117700116-117700116 A>-_KIIQINTDSLVQEKRRR
5:140263870-140263870 G>A	0.0	4180	BREAST	-	-	-	-	PCDHA13	uc003lif.2,p.G673S|uc003lie.1,p.G673S|NM_018904,p.G673S|NM_031865,p.G673S|uc003lid.3,p.G673S|ENST00000409494,p.G673S|ENST00000289272,p.G673S	protein_coding	uc003lif.2	nonsynonymous SNV	exon1	c.G2017A	p.G673S	ATATVLLSLVESGQAPQASSRASAG	ATATVLLSLVESSQAPQASSRASAG	1.0	6.0	unscreened	-	4180_5:140263870-140263870 G>A_ATATVLLSLVESSQAPQASSRASAG
18:54814568-54814568 A>G	0.0	4180	BREAST	-	-	-	-	BOD1L2	NM_001257964,p.S9G|ENST00000585477,p.S9G|uc002lgm.3,p.S9G	protein_coding	uc002lgm.3	nonsynonymous SNV	exon1	c.A25G	p.S9G	MADGGGGGSGGAGPASTRASG	MADGGGGGGGGAGPASTRASG	1.0	5.0	unscreened	-	4180_18:54814568-54814568 A>G_MADGGGGGGGGAGPASTRASG
1:161254154-161254156 GGA>-	0.0	4180	BREAST	-	-	ID=COSM292795;OCCURENCE=1(large_intestine)	-	PCP4L1	NM_001102566,p.30_31del|ENST00000504449,p.30_31del|uc001gad.3,p.30_31del	protein_coding	uc001gad.3	nonframeshift deletion	exon3	c.90_92del	p.30_31del	QEEKGKAGNVKKAEEEEEIDIDLTA	QEEKGKAGNVKKAEEEEIDIDLTAP	3.0	5.0	unscreened	-	4180_1:161254154-161254156 GGA>-_QEEKGKAGNVKKAEEEEIDIDLTAP
4:57248651-57248651 ->T	0.0	4180	BREAST	-	-	-	-	AASDH	uc003hbo.3,p.Q15fs|uc003hbp.3,p.Q115fs|ENST00000513376,p.Q15fs|ENST00000451613,p.Q115fs|NM_001286668,p.Q15fs|uc003hbn.3,p.Q115fs|NM_181806,p.Q115fs|uc010ihc.3,p.Q115fs|ENST00000205214,p.Q115fs|NM_001286671,p.Q115fs|uc003hbq.1,p.Q115fs|NM_001286672,p.Q115fs|ENST00000502617,p.Q115fs|ENST00000514745,p.Q115fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ihc.3	frameshift insertion	exon3	c.342dupA	p.Q115fs	KCNLKYILVEKKQINKFKSFHETLL	KCNLKYILVEKKTN	7.0	6.0	unscreened	-	4180_4:57248651-57248651 ->T_KCNLKYILVEKKTN
14:52781276-52781276 G>A	0.0	4180	BREAST	-	-	-	-	PTGER2	ENST00000245457,p.A4T|NM_000956,p.A4T|uc001wzr.3,p.A4T	protein_coding	uc001wzr.3	nonsynonymous SNV	exon1	c.G10A	p.A4T	MGNASNDSQSEDCETR	MGNTSNDSQSEDCETR	5.0	6.0	unscreened	-	4180_14:52781276-52781276 G>A_MGNTSNDSQSEDCETR
15:86807693-86807693 A>-	0.0	4180	BREAST	-	-	ID=COSM1375168;OCCURENCE=2(large_intestine)	-	AGBL1	ENST00000421325,p.K385fs|NM_152336,p.K385fs|ENST00000389298,p.K116fs|uc002blz.1,p.K385fs|uc002bmb.1,p.K79fs|ENST00000441037,p.K385fs|uc002bma.1,p.K116fs	retained_intron, protein_coding	uc002bmb.1	frameshift deletion	exon2	c.235delA	p.K79fs	VKTGRSTVHLGSKKNPGVNLYQNVQ	VKTGRSTVHLGSKKILE	1.0	4.0	unscreened	-	4180_15:86807693-86807693 A>-_VKTGRSTVHLGSKKILE
1:180044177-180044177 A>-	1.0	4180	BREAST	-	-	-	-	CEP350	uc001gnt.3,p.Q1863fs|ENST00000367607,p.Q1863fs|uc009wxl.2,p.Q1862fs|NM_014810,p.Q1863fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc009wxl.2	frameshift deletion	exon27	c.5585delA	p.Q1862fs	SRMDEKFLTKREQKLMQRRQHAEEL	SRMDEKFLTKREQN	8.0	5.0	unscreened	-	4180_1:180044177-180044177 A>-_SRMDEKFLTKREQN
21:16338330-16338330 T>-	0.0	4180	BREAST	-	-	ID=COSM1180922;OCCURENCE=1(liver),8(large_intestine)	-	NRIP1	ENST00000400202,p.K728fs|uc031ruz.1,p.K728fs|uc002yjx.2,p.K728fs|ENST00000318948,p.K728fs|NM_003489,p.K728fs|uc031ruy.1,p.K728fs|ENST00000400199,p.K728fs|uc021whl.1,p.K728fs	protein_coding	uc031ruz.1	frameshift deletion	exon3	c.2184delA	p.K728fs	LLGNPNKGKSEKKEKTPLRDESTQE	LLGNPNKGKSEKKRKLP	6.0	5.0	unscreened	-	4180_21:16338330-16338330 T>-_LLGNPNKGKSEKKRKLP
19:17397518-17397518 ->GTGT	0.0	4180	BREAST	-	-	-	-	ANKLE1	ENST00000598347,p.C596fs|uc010xpn.1,p.C650fs|NM_001278444,p.C650fs	retained_intron, protein_coding, nonsense_mediated_decay	uc010xpn.1	frameshift insertion	exon8	c.1950_1951insGTGT	p.C650fs	CVCVCVCLCVCVCV	CVCVCVCLCVCVCVCV	4.0	5.0	unscreened	-	4180_19:17397518-17397518 ->GTGT_CVCVCVCLCVCVCVCV
12:85518291-85518291 A>-	0.0	4180	BREAST	-	-	-	-	LRRIQ1	uc021rbo.1,p.E1212fs	retained_intron, protein_coding, nonsense_mediated_decay	uc021rbo.1	frameshift deletion	exon13	c.3635delA	p.E1212fs	SLLRNHQNIEPSEKM	SLLRNHQNIEPSEKC	1.0	4.0	unscreened	-	4180_12:85518291-85518291 A>-_SLLRNHQNIEPSEKC
X:100382549-100382549 A>-	0.0	4180	BREAST	-	-	-	-	CENPI	uc011mrg.2,p.G323fs|ENST00000218507,p.G323fs|uc004egx.3,p.G323fs|ENST00000372926,p.G323fs|ENST00000423383,p.G323fs|uc004egy.3,p.G323fs|NM_006733,p.G323fs|ENST00000372927,p.G323fs	protein_coding	uc011mrg.2	frameshift deletion	exon11	c.969delA	p.G323fs	PVLNSSSYTKECGKKEMSLSDCLNR	PVLNSSSYTKECGKKR	6.0	5.0	unscreened	-	4180_X:100382549-100382549 A>-_PVLNSSSYTKECGKKR
10:115457285-115457285 G>-	0.0	4180	BREAST	-	-	-	-	CASP7	uc010qsa.3,p.R86fs|NM_001267057,p.R86fs	protein_coding, processed_transcript	uc010qsa.3	frameshift deletion	exon2	c.257delG	p.R86fs	ERWQMIRAVLKSRGLRIQQMKIQWM	ERWQMIRAVLKSRG	8.0	3.0	unscreened	-	4180_10:115457285-115457285 G>-_ERWQMIRAVLKSRG
8:22473324-22473324 C>-	0.0	4180	BREAST	-	-	ID=COSM1456113;OCCURENCE=1(stomach),3(large_intestine)	-	CCAR2	ENST00000520861,p.P178fs|uc003xci.3,p.P503fs|uc003xcj.1,p.P172fs|uc003xch.3,p.P503fs|ENST00000308511,p.P503fs|NM_021174,p.P503fs|ENST00000389279,p.P503fs	retained_intron, protein_coding	uc003xcj.1	frameshift deletion	exon10	c.514delC	p.P172fs	QETDTDLPEAPPPPLEPAVIARPGC	QETDTDLPEAPPPP	9.0	5.0	unscreened	-	4180_8:22473324-22473324 C>-_QETDTDLPEAPPPP
12:1005704-1005704 T>-	0.0	4180	BREAST	-	-	-	-	WNK1	uc031qfk.1,p.A2430fs|ENST00000315939,p.A2017fs|NM_014823,p.A1769fs|uc021qst.1,p.A2269fs|ENST00000535572,p.A1769fs|NM_213655,p.A2269fs|ENST00000530271,p.A2515fs|ENST00000340908,p.A1610fs|NM_018979,p.A2017fs|uc021qss.1,p.A2277fs|ENST00000537687,p.A2277fs|uc001qir.4,p.A1190fs|uc001qio.4,p.A2017fs|uc001qip.4,p.A1769fs|NM_001184985,p.A2277fs	retained_intron, protein_coding, processed_transcript	uc031qfk.1	frameshift deletion	exon25	c.7290delT	p.A2430fs	SHLNGPSSDPEAAFLSRDVDDGSGS	SHLNGPSSDPEAAF	9.0	2.0	unscreened	-	4180_12:1005704-1005704 T>-_SHLNGPSSDPEAAF
6:64415953-64415953 A>-	0.0	4180	BREAST	-	-	ID=COSM1445551;OCCURENCE=1(large_intestine)	-	PHF3	uc011dxs.1,p.P403fs|ENST00000506783,p.P948fs|ENST00000515594,p.P403fs|ENST00000262043,p.P1134fs|uc003pep.1,p.P1134fs|NM_001290259,p.P1046fs|ENST00000393387,p.P1134fs|uc003pen.2,p.P1046fs|uc010kah.1,p.P948fs|NM_015153,p.P1134fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxs.1	frameshift deletion	exon10	c.1209delA	p.P403fs	IGRMAPPVDDLSPKKVKVVVGVARK	IGRMAPPVDDLSPKK	8.0	9.0	unscreened	-	4180_6:64415953-64415953 A>-_IGRMAPPVDDLSPKK
5:158697385-158697385 ->C	0.0	4180	BREAST	-	-	-	-	UBLCP1	NM_145049,p.P88fs|ENST00000296786,p.P88fs|uc003lxq.2,p.P88fs	retained_intron, protein_coding	uc003lxq.2	frameshift insertion	exon4	c.265dupC	p.P88fs	GTREESLEDVLGPPPDNDDVVNDFD	GTREESLEDVLGPPP	7.0	6.0	unscreened	-	4180_5:158697385-158697385 ->C_GTREESLEDVLGPPP
19:35757614-35757614 C>T	1.0	4186	BREAST	-	-	-	-	LSR	ENST00000602122,p.R358W|uc002nyo.3,p.R358W|NM_001260489,p.R358W	retained_intron, protein_coding	uc002nyo.3	nonsynonymous SNV	exon6	c.C1072T	p.R358W	SAGGQGSYVPLLRDTDSSVASVRSG	SAGGQGSYVPLLWDTDSSVASVRSG	10.0	8.0	unscreened	-	4186_19:35757614-35757614 C>T_SAGGQGSYVPLLWDTDSSVASVRSG
1:118499744-118499744 T>A	1.0	4186	BREAST	-	-	-	-	WDR3	NM_006784,p.L836H|ENST00000349139,p.L836H|uc010oxe.1,p.L836H	protein_coding, processed_transcript	uc010oxe.1	nonsynonymous SNV	exon25	c.T2507A	p.L836H	LLVLPFSYVPDILKLFNEFIQLGSD	LLVLPFSYVPDIHKLFNEFIQLGSD	8.0	4.0	-	-	4186_1:118499744-118499744 T>A_LLVLPFSYVPDIHKLFNEFIQLGSD
12:115112153-115112153 ->C	1.0	4186	BREAST	-	-	-	1	TBX3	uc001tvu.1,p.G509fs|NM_005996,p.G509fs|NM_016569,p.G529fs|ENST00000349155,p.G509fs|ENST00000257566,p.G529fs|uc001tvt.1,p.G529fs	retained_intron, protein_coding	uc001tvu.1	frameshift insertion	exon6	c.1526dupG	p.G509fs	PLFLHPSQFAMGGAFSSMAAAGMGP	PLFLHPSQFAMGGRLLQHGGRWHGSPPGHGFWGLHRCLGPGFHGHGLCRCGAGTVRGVRGHPALPPPAARPGLSGPGHVPFRKPVPLPLHVHGRSGGRLLCGSLQLGAPPPLPQSEHHAPAAALQPLLHPGAGPGRQQSAHHRPALHGGGRGAPGRQSRRPGRQPGLGGSGLGL	8.0	10.0	unscreened	-	4186_12:115112153-115112153 ->C_PLFLHPSQFAMGGRLLQHGGRWHGSPPGHGFWGLHRCLGPGFHGHGLCRCGAGTVRGVRGHPALPPPAARPGLSGPGHVPFRKPVPLPLHVHGRSGGRLLCGSLQLGAPPPLPQSEHHAPAAALQPLLHPGAGPGRQQSAHHRPALHGGGRGAPGRQSRRPGRQPGLGGSGLGL
19:35757614-35757614 C>T	1.0	4186	BREAST	-	-	-	-	LSR	ENST00000605618,p.R228W|NM_001260490,p.R269W|ENST00000427250,p.R221W|NM_205835,p.R309W|ENST00000354900,p.R358W|NM_015925,p.R358W|uc002nyn.3,p.R309W|ENST00000360798,p.R309W|NM_205834,p.R377W|uc002nym.3,p.R358W|uc002nyl.3,p.R377W|ENST00000361790,p.R377W|uc010xsr.2,p.R269W	retained_intron, protein_coding	uc010xsr.2	nonsynonymous SNV	exon4	c.C805T	p.R269W	SAGGQGSYVPLLRDTDSSVASEVRS	SAGGQGSYVPLLWDTDSSVASEVRS	10.0	8.0	CD8	-	4186_19:35757614-35757614 C>T_SAGGQGSYVPLLWDTDSSVASEVRS
15:91020376-91020376 C>G	0.0	4186	BREAST	-	-	-	-	IQGAP1	ENST00000268182,p.I1006M|uc002bpl.1,p.I1006M|NM_003870,p.I1006M|ENST00000560738,p.I434M	retained_intron, protein_coding, processed_transcript	uc002bpl.1	nonsynonymous SNV	exon25	c.C3018G	p.I1006M	PQNKSTKFMDSVIFTLYNYASNQRE	PQNKSTKFMDSVMFTLYNYASNQRE	10.0	8.0	unscreened	-	4186_15:91020376-91020376 C>G_PQNKSTKFMDSVMFTLYNYASNQRE
7:100802357-100802357 C>G	1.0	4186	BREAST	-	-	-	-	AP1S1	ENST00000337619,p.I103M|uc003uxv.4,p.I103M|ENST00000443943,p.I103M|NM_001283,p.I103M	protein_coding, nonsense_mediated_decay	uc003uxv.4	nonsynonymous SNV	exon4	c.C309G	p.I103M	LDKYFGSVCELDIIFNFEKAYFILD	LDKYFGSVCELDMIFNFEKAYFILD	10.0	6.0	-	-	4186_7:100802357-100802357 C>G_LDKYFGSVCELDMIFNFEKAYFILD
19:622879-622879 G>A	0.0	4186	BREAST	-	-	-	-	POLRMT	NM_005035,p.S466L|ENST00000588649,p.S466L|uc002lpf.1,p.S466L	retained_intron, protein_coding, processed_transcript	uc002lpf.1	nonsynonymous SNV	exon7	c.C1397T	p.S466L	NRLEREVYEGRFSLYPFLCLLDERE	NRLEREVYEGRFLLYPFLCLLDERE	9.0	4.0	unscreened	-	4186_19:622879-622879 G>A_NRLEREVYEGRFLLYPFLCLLDERE
16:75033761-75033761 ->G	0.0	4186	BREAST	-	-	-	-	ZNRF1	uc002fdl.1,p.A64fs|ENST00000567962,p.A64fs|ENST00000335325,p.A64fs|NM_032268,p.A64fs|uc010cgr.1,p.A64fs|uc002fdk.3,p.A64fs|ENST00000566250,p.A64fs|ENST00000320619,p.A64fs|uc010vmz.1,p.A64fs	retained_intron, protein_coding, processed_transcript	uc010vmz.1	frameshift insertion	exon1	c.193dupG	p.A64fs	SSVAGMGMDPSTAGGVPFGLYTPAS	SSVAGMGMDPSTAGGGALWPLHPRLPGHRRLREGARRRRVCVRLHLCPWQWLPGDGRRSP	8.0	1.0	unscreened	-	4186_16:75033761-75033761 ->G_SSVAGMGMDPSTAGGGALWPLHPRLPGHRRLREGARRRRVCVRLHLCPWQWLPGDGRRSP
14:24437989-24437989 C>G	0.0	4186	BREAST	-	-	-	-	DHRS4	ENST00000558263,p.C180W|ENST00000382761,p.C162W|NM_001282987,p.C180W	protein_coding	NM_001282987	nonsynonymous SNV	exon6	c.C540G	p.C180W	PADKKVRRARGLCWHRVFPVL	PADKKVRRARGLWWHRVFPVL	9.0	5.0	-	-	4186_14:24437989-24437989 C>G_PADKKVRRARGLWWHRVFPVL
11:57281505-57281505 G>A	0.0	4186	BREAST	-	-	-	-	SLC43A1	NM_003627,p.S27F|uc001nkl.3,p.S27F|ENST00000534298,p.S27F|ENST00000533066,p.S27F|ENST00000524995,p.S27F|ENST00000528450,p.S27F|NM_001198810,p.S27F|ENST00000534105,p.S27F|ENST00000278426,p.S27F|ENST00000533263,p.S27F|ENST00000530159,p.S27F|uc001nkk.3,p.S27F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001nkl.3	nonsynonymous SNV	exon2	c.C80T	p.S27F	MACTAVLENLFFSAVLLGWGSLLII	MACTAVLENLFFFAVLLGWGSLLII	8.0	4.0	unscreened	-	4186_11:57281505-57281505 G>A_MACTAVLENLFFFAVLLGWGSLLII
8:54708284-54708286 TAT>-	0.0	4186	BREAST	-	-	-	-	ATP6V1H	ENST00000355221,p.246_247del|ENST00000520188,p.224_225del|ENST00000396774,p.264_265del|ENST00000359530,p.264_265del|uc003xrm.4,p.264_265del|uc010lyd.4,p.200_201del|NM_213619,p.246_247del|uc003xrl.4,p.264_265del|uc003xrk.4,p.224_225del|uc003xrn.4,p.246_247del|NM_213620,p.264_265del|NM_015941,p.264_265del|uc011ldv.3,p.184_185del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ldv.3	nonframeshift deletion	exon9	c.551_553del	p.184_185del	FSPQMCEHLRRYNIIPVLSDILQES	FSPQMCEHLRRYIIPVLSDILQESV	9.0	8.0	unscreened	-	4186_8:54708284-54708286 TAT>-_FSPQMCEHLRRYIIPVLSDILQESV
2:55910928-55910928 C>A	0.0	4186	BREAST	-	-	-	-	PNPT1	ENST00000447944,p.D149Y|ENST00000260604,p.D149Y|uc002rzf.3,p.D149Y|ENST00000415374,p.D149Y|NM_033109,p.D149Y	retained_intron, protein_coding, nonsense_mediated_decay	uc002rzf.3	nonsynonymous SNV	exon5	c.G445T	p.D149Y	SIRPLFPAGYFYDTQVLCNLLAVDG	SIRPLFPAGYFYYTQVLCNLLAVDG	8.0	3.0	unscreened	-	4186_2:55910928-55910928 C>A_SIRPLFPAGYFYYTQVLCNLLAVDG
16:74957862-74957862 G>C	0.0	4186	BREAST	-	-	-	-	WDR59	NM_030581,p.L231V|ENST00000262144,p.L231V|uc002fdh.1,p.L231V|uc002fdi.3,p.L231V|uc021tli.1,p.L210V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tli.1	nonsynonymous SNV	exon8	c.C628G	p.L210V	WDYRQPRKYLNILPCQVPVWKARYT	WDYRQPRKYLNIVPCQVPVWKARYT	9.0	2.0	unscreened	-	4186_16:74957862-74957862 G>C_WDYRQPRKYLNIVPCQVPVWKARYT
1:233152797-233152797 T>G	0.0	4186	BREAST	-	-	-	-	PCNXL2	ENST00000344698,p.E222A|NM_014801,p.E1570A|uc001hvk.1,p.E222A|ENST00000258229,p.E1570A|uc001hvl.2,p.E1570A|uc001hvm.2,p.E49A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001hvm.2	nonsynonymous SNV	exon13	c.A146C	p.E49A	KSLQPFAKWHYIERDLAMFNINIDD	KSLQPFAKWHYIARDLAMFNINIDD	6.0	1.0	unscreened	-	4186_1:233152797-233152797 T>G_KSLQPFAKWHYIARDLAMFNINIDD
17:80878450-80878450 A>C	1.0	4186	BREAST	-	-	-	-	TBCD	ENST00000572953,p.K172T|ENST00000539345,p.K686T|ENST00000574975,p.K145T|ENST00000571712,p.K78T|ENST00000576760,p.K124T|uc002kfy.1,p.K686T|ENST00000574422,p.K124T|ENST00000355528,p.K686T|uc002kfx.1,p.K669T|NM_005993,p.K686T|ENST00000576160,p.K124T|uc002kfz.3,p.K686T	retained_intron, protein_coding, processed_transcript	uc002kfz.3	nonsynonymous SNV	exon24	c.A2057C	p.K686T	QLMRQAVCVLIEKLSLSKMPFRGDT	QLMRQAVCVLIETLSLSKMPFRGDT	10.0	1.0	-	-	4186_17:80878450-80878450 A>C_QLMRQAVCVLIETLSLSKMPFRGDT
8:38879210-38879210 C>T	0.0	4186	BREAST	-	-	-	-	ADAM9	ENST00000481873,p.L241F|ENST00000379917,p.L241F|uc003xmr.3,p.L241F|NM_003816,p.L241F|ENST00000468065,p.L241F|ENST00000487273,p.L241F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xmr.3	nonsynonymous SNV	exon8	c.C721T	p.L241F	GRNQTAVREEMILLANYLDSMYIML	GRNQTAVREEMIFLANYLDSMYIML	9.0	8.0	unscreened	-	4186_8:38879210-38879210 C>T_GRNQTAVREEMIFLANYLDSMYIML
2:27854765-27854765 C>G	0.0	4186	BREAST	-	-	-	-	GPN1	NM_001145048,p.Q25E|NM_001145047,p.Q92E|ENST00000515877,p.Q25E|uc010yma.2,p.Q25E|NM_007266,p.Q118E|ENST00000424214,p.Q25E|uc010ezf.3,p.Q92E|uc010ymc.2,p.Q118E|ENST00000407583,p.Q92E|ENST00000264718,p.Q118E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ymc.2	nonsynonymous SNV	exon4	c.C352G	p.Q118E	VTSLNLFATRFDQVMKFIEKAQNMS	VTSLNLFATRFDEVMKFIEKAQNMS	9.0	9.0	unscreened	-	4186_2:27854765-27854765 C>G_VTSLNLFATRFDEVMKFIEKAQNMS
5:138463480-138463480 A>C	0.0	4186	BREAST	-	-	-	-	SIL1	NM_001037633,p.L18R|ENST00000505353,p.L18R|ENST00000508639,p.L18R|uc003ldo.3,p.L18R|ENST00000505830,p.L28R|ENST00000265195,p.L18R|ENST00000507002,p.L28R|ENST00000509534,p.L26R|ENST00000394817,p.L18R|ENST00000513453,p.L18R|uc003ldp.3,p.L18R|NM_022464,p.L18R	protein_coding, processed_transcript	uc003ldp.3	nonsynonymous SNV	exon2	c.T53G	p.L18R	LPSSRMAPLGMLLGLLMAACFTFCL	LPSSRMAPLGMLRGLLMAACFTFCL	10.0	8.0	unscreened	-	4186_5:138463480-138463480 A>C_LPSSRMAPLGMLRGLLMAACFTFCL
4:57871874-57871874 C>G	0.0	4186	BREAST	-	-	-	-	POLR2B	uc011caf.1,p.F327L|ENST00000431623,p.F327L|ENST00000314595,p.F402L|ENST00000441246,p.F395L|ENST00000381227,p.F402L|uc011cae.1,p.F395L|uc003hcl.1,p.F402L|NM_000938,p.F402L	retained_intron, protein_coding, processed_transcript	uc011caf.1	nonsynonymous SNV	exon8	c.C981G	p.F327L	NKRLDLAGPLLAFLFRGMFKNLLKE	NKRLDLAGPLLALLFRGMFKNLLKE	10.0	7.0	-	-	4186_4:57871874-57871874 C>G_NKRLDLAGPLLALLFRGMFKNLLKE
6:43030740-43030740 A>G	0.0	4186	BREAST	-	-	-	-	KLC4	ENST00000470728,p.E93G	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000470728	nonsynonymous SNV	exon3	c.A278G	p.E93G	GLSEAQVRRLCQENQWLRDELAGTQ	GLSEAQVRRLCQGNQWLRDELAGTQ	8.0	3.0	unscreened	-	4186_6:43030740-43030740 A>G_GLSEAQVRRLCQGNQWLRDELAGTQ
6:43030740-43030740 A>G	0.0	4186	BREAST	-	-	-	-	KLC4	NM_201521,p.E115G|NM_138343,p.E115G|ENST00000394056,p.E115G|ENST00000259708,p.E133G|uc003otz.1,p.E115G|uc003otx.1,p.E115G|NM_201523,p.E133G|NM_001289034,p.E115G|uc003oty.1,p.E115G|ENST00000479632,p.E28G|NM_201522,p.E115G|ENST00000479388,p.E115G|ENST00000394058,p.E115G|uc003otu.3,p.E115G|uc003otw.1,p.E133G|ENST00000458460,p.E115G|ENST00000347162,p.E115G|uc003otv.1,p.E115G	retained_intron, protein_coding, nonsense_mediated_decay	uc003otz.1	nonsynonymous SNV	exon3	c.A344G	p.E115G	QKLRAQVRRLCQENQWLRDELAGTQ	QKLRAQVRRLCQGNQWLRDELAGTQ	8.0	3.0	unscreened	-	4186_6:43030740-43030740 A>G_QKLRAQVRRLCQGNQWLRDELAGTQ
10:97392790-97392790 T>A	1.0	4186	BREAST	-	-	-	-	ALDH18A1	NM_002860,p.D245V|uc001kkz.3,p.D245V|uc010qog.2,p.D134V|uc010qoh.2,p.D33V|ENST00000371224,p.D245V	protein_coding, processed_transcript	uc010qoh.2	nonsynonymous SNV	exon4	c.A98T	p.D33V	SDLQGVNVISVKDNDSLAARLAVEM	SDLQGVNVISVKVNDSLAARLAVEM	9.0	10.0	-	-	4186_10:97392790-97392790 T>A_SDLQGVNVISVKVNDSLAARLAVEM
2:86705746-86705746 G>A	0.0	4186	BREAST	-	-	-	-	KDM3A	ENST00000312912,p.G735E|uc010ytj.2,p.G735E|ENST00000409064,p.G735E|NM_018433,p.G735E|NM_001146688,p.G735E|uc002sri.4,p.G735E|uc010ytk.2,p.G683E|ENST00000409556,p.G735E|ENST00000542128,p.G683E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ytk.2	nonsynonymous SNV	exon13	c.G2048A	p.G683E	TQIIPGKALYDVGDIVHSVRAKWGI	TQIIPGKALYDVEDIVHSVRAKWGI	7.0	2.0	unscreened	-	4186_2:86705746-86705746 G>A_TQIIPGKALYDVEDIVHSVRAKWGI
10:65140175-65140175 G>A	0.0	4186	BREAST	-	-	-	-	JMJD1C	uc001jmn.3,p.S79L|uc001jmr.1,p.S79L|NM_032776,p.S79L|ENST00000399262,p.S79L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jmr.1	nonsynonymous SNV	exon2	c.C236T	p.S79L	DKREWVKVYEDFSTFLVEYHLIWAK	DKREWVKVYEDFLTFLVEYHLIWAK	5.0	4.0	unscreened	-	4186_10:65140175-65140175 G>A_DKREWVKVYEDFLTFLVEYHLIWAK
10:97392790-97392790 T>A	1.0	4186	BREAST	-	-	-	-	ALDH18A1	uc001kky.3,p.D243V|ENST00000371221,p.D243V|NM_001017423,p.D243V	protein_coding, processed_transcript	uc001kky.3	nonsynonymous SNV	exon7	c.A728T	p.D243V	PNSDLQGVISVKDNDSLAARLAVEM	PNSDLQGVISVKVNDSLAARLAVEM	9.0	10.0	-	-	4186_10:97392790-97392790 T>A_PNSDLQGVISVKVNDSLAARLAVEM
1:43317344-43317344 T>G	1.0	4186	BREAST	-	-	-	-	ZNF691	ENST00000372506,p.F239V|ENST00000397044,p.F270V|uc001cih.3,p.F266V|uc021omh.1,p.F270V|ENST00000372508,p.F239V|NM_001242739,p.F270V|ENST00000372502,p.F261V|uc009vwm.3,p.F259V|uc001cig.3,p.F239V|uc021omi.1,p.F239V|ENST00000372507,p.F239V|ENST00000372504,p.F261V|NM_015911,p.F239V|ENST00000372503,p.F270V	protein_coding	uc021omi.1	nonsynonymous SNV	exon1	c.T715G	p.F239V	TECGRTFSDISNFGAHQRTHRGEKP	TECGRTFSDISNVGAHQRTHRGEKP	8.0	6.0	-	-	4186_1:43317344-43317344 T>G_TECGRTFSDISNVGAHQRTHRGEKP
1:245133536-245133536 G>A	0.0	4186	BREAST	-	-	-	-	LOC101928068	ENST00000607453,p.R281C	 protein_coding, processed_transcript,retained_intron	ENST00000607453	nonsynonymous SNV	exon1	c.C841T	p.R281C	GRRLRARALSPFRATTLALGEDQRP	GRRLRARALSPFCATTLALGEDQRP	6.0	2.0	unscreened	-	4186_1:245133536-245133536 G>A_GRRLRARALSPFCATTLALGEDQRP
19:44605059-44605059 T>G	0.0	4186	BREAST	-	-	-	-	ZNF224	uc002oyh.2,p.F41V|ENST00000591511,p.F41V|ENST00000336976,p.F41V|NM_013398,p.F41V|ENST00000589680,p.F41V|ENST00000589870,p.F41V	retained_intron, protein_coding, processed_transcript	uc002oyh.2	nonsynonymous SNV	exon4	c.T121G	p.F41V	QRKLYRDVMLENFRNLLSVGHQAFH	QRKLYRDVMLENVRNLLSVGHQAFH	6.0	3.0	-	-	4186_19:44605059-44605059 T>G_QRKLYRDVMLENVRNLLSVGHQAFH
11:67056966-67056966 G>T	0.0	4186	BREAST	-	-	-	-	ANKRD13D	ENST00000511455,p.R12L|NM_207354,p.R12L|uc001okd.2,p.R12L	retained_intron, protein_coding, processed_transcript	uc001okd.2	nonsynonymous SNV	exon1	c.G35T	p.R12L	MAGPGPTFPLHRLVWANRHRELEA	MAGPGPTFPLHLLVWANRHRELEA	8.0	2.0	unscreened	-	4186_11:67056966-67056966 G>T_MAGPGPTFPLHLLVWANRHRELEA
19:57955514-57955514 A>G	0.0	4186	BREAST	-	-	-	-	ZNF749	ENST00000334181,p.K333R|NM_001023561,p.K333R|uc002qoq.2,p.K333R	protein_coding, processed_transcript	uc002qoq.2	nonsynonymous SNV	exon3	c.A998G	p.K333R	TGEQPYECNKCGKFFMYNSKLIRHQ	TGEQPYECNKCGRFFMYNSKLIRHQ	8.0	2.0	unscreened	-	4186_19:57955514-57955514 A>G_TGEQPYECNKCGRFFMYNSKLIRHQ
5:33637697-33637697 G>T	0.0	4186	BREAST	-	-	-	-	ADAMTS12	ENST00000352040,p.P625T|uc010iuq.1,p.P625T	protein_coding, processed_transcript	uc010iuq.1	nonsynonymous SNV	exon12	c.C1873A	p.P625T	TVPYKNELYHWFPIFNPGYVDIGLI	TVPYKNELYHWFTIFNPGYVDIGLI	5.0	4.0	-	-	4186_5:33637697-33637697 G>T_TVPYKNELYHWFTIFNPGYVDIGLI
5:33637697-33637697 G>T	0.0	4186	BREAST	-	-	-	-	ADAMTS12	NM_030955,p.P625T|ENST00000504830,p.P625T|uc003jia.1,p.P625T	protein_coding, processed_transcript	uc003jia.1	nonsynonymous SNV	exon12	c.C1873A	p.P625T	TVPYKNELYHWFPIFNPAHPCELYC	TVPYKNELYHWFTIFNPAHPCELYC	5.0	4.0	-	-	4186_5:33637697-33637697 G>T_TVPYKNELYHWFTIFNPAHPCELYC
3:53753793-53753793 C>T	0.0	4186	BREAST	-	-	-	1	CACNA1D	uc003dgu.5,p.S517L|NM_000720,p.S517L|uc003dgw.4,p.S164L|ENST00000288139,p.S517L|ENST00000481478,p.S190L	retained_intron, protein_coding, processed_transcript	uc003dgw.4	nonsynonymous SNV	exon6	c.C491T	p.S164L	GPSGCRRWGQAISKSKLSRRWRRWN	GPSGCRRWGQAILKSKLSRRWRRWN	6.0	10.0	-	-	4186_3:53753793-53753793 C>T_GPSGCRRWGQAILKSKLSRRWRRWN
4:85707194-85707194 G>C	0.0	4186	BREAST	-	-	-	-	WDFY3	NM_014991,p.L1334V|ENST00000295888,p.L1334V|ENST00000322366,p.L1334V|uc003hpd.3,p.L1334V	retained_intron, protein_coding, processed_transcript	uc003hpd.3	nonsynonymous SNV	exon24	c.C4000G	p.L1334V	VSFGLYALSVSSLTVARIRKVYNKL	VSFGLYALSVSSVTVARIRKVYNKL	6.0	4.0	-	-	4186_4:85707194-85707194 G>C_VSFGLYALSVSSVTVARIRKVYNKL
8:124358478-124358478 T>C	0.0	4186	BREAST	-	-	-	-	ATAD2	NM_014109,p.R794G|ENST00000287394,p.R794G|uc003yqj.3,p.R794G|uc003yqh.4,p.R794G|ENST00000521903,p.R112G|uc011lii.2,p.R585G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lii.2	nonsynonymous SNV	exon18	c.A1753G	p.R585G	RNACYQPMSFRPRILIVGEPGFGQG	RNACYQPMSFRPGILIVGEPGFGQG	7.0	6.0	unscreened	-	4186_8:124358478-124358478 T>C_RNACYQPMSFRPGILIVGEPGFGQG
19:38817608-38817608 T>A	0.0	4186	BREAST	-	-	-	-	KCNK6	uc002oid.3,p.L99H|ENST00000263372,p.L233H|NM_004823,p.L233H|uc002oic.3,p.L233H	protein_coding, processed_transcript	uc002oid.3	nonsynonymous SNV	exon2	c.T296A	p.L99H	VPGEAPGQPYRALYKVLVTVYLFLG	VPGEAPGQPYRAHYKVLVTVYLFLG	5.0	4.0	-	-	4186_19:38817608-38817608 T>A_VPGEAPGQPYRAHYKVLVTVYLFLG
X:153295974-153295974 C>G	1.0	4186	BREAST	-	-	-	-	MECP2	NM_001110792,p.K447N|NM_004992,p.K435N|uc004fjv.2,p.K435N|uc004fjw.2,p.K447N|ENST00000303391,p.K435N|ENST00000453960,p.K447N	protein_coding, processed_transcript, nonsense_mediated_decay	uc004fjw.2	nonsynonymous SNV	exon3	c.G1341C	p.K447N	SLESDGCPKEPAKTQPAVATAATAA	SLESDGCPKEPANTQPAVATAATAA	8.0	10.0	-	-	4186_X:153295974-153295974 C>G_SLESDGCPKEPANTQPAVATAATAA
19:35632105-35632105 T>C	0.0	4186	BREAST	-	-	-	-	FXYD1	NM_001278717,p.V55A|ENST00000588715,p.V55A|ENST00000588081,p.V55A|ENST00000351325,p.V55A|uc002nyd.3,p.V55A|uc002nyc.3,p.V55A|ENST00000589209,p.V55A|NM_001278718,p.V55A|NM_005031,p.V55A|ENST00000588607,p.V55A|NM_021902,p.V55A|ENST00000455515,p.V55A	retained_intron, protein_coding	uc002nyd.3	nonsynonymous SNV	exon4	c.T164C	p.V55A	IAGILFILGILIVLSRRCRCKFNQQ	IAGILFILGILIALSRRCRCKFNQQ	6.0	9.0	-	-	4186_19:35632105-35632105 T>C_IAGILFILGILIALSRRCRCKFNQQ
7:77531171-77531171 C>T	0.0	4186	BREAST	-	-	ID=COSM453425,COSM453424;OCCURENCE=1(breast)	-	PHTF2	uc003ugq.4,p.R89W|ENST00000307305,p.R89W|ENST00000416283,p.R93W|uc003ugp.3,p.R89W|ENST00000450574,p.R93W|ENST00000422959,p.R93W|uc003ugs.4,p.R127W|NM_001127360,p.R89W|NM_001127359,p.R93W|ENST00000424760,p.R89W|NM_020432,p.R89W|ENST00000248550,p.R127W|uc003ugt.4,p.R93W|ENST00000275575,p.R89W|uc003ugr.4,p.R93W|uc003ugo.4,p.R89W|NM_001127357,p.R93W|ENST00000415251,p.R89W|NM_001127358,p.R89W|uc003ugu.4,p.R89W|uc022agp.1,p.R127W|uc010ldv.3,p.R89W	retained_intron, protein_coding, processed_transcript	uc022agp.1	nonsynonymous SNV	exon6	c.C379T	p.R127W	GIVRVVFFPFFFRWWLQVTSKVIFF	GIVRVVFFPFFFWWWLQVTSKVIFF	5.0	6.0	unscreened	-	4186_7:77531171-77531171 C>T_GIVRVVFFPFFFWWWLQVTSKVIFF
10:44139513-44139513 C>G	0.0	4186	BREAST	-	-	-	-	ZNF32	uc001jbc.3,p.Q269H|NM_006973,p.Q269H|NM_001005368,p.Q269H|ENST00000395797,p.Q269H|ENST00000374433,p.Q269H|uc001jbb.3,p.Q269H	protein_coding, processed_transcript	uc001jbc.3	nonsynonymous SNV	exon3	c.G807C	p.Q269H	RGSLAVHQRSCSQRLTL	RGSLAVHQRSCSHRLTL	9.0	7.0	-	-	4186_10:44139513-44139513 C>G_RGSLAVHQRSCSHRLTL
20:31022514-31022514 G>-	0.0	4186	BREAST	-	-	-	1	ASXL1	NM_015338,p.D667fs|ENST00000375687,p.D667fs|ENST00000306058,p.D662fs|uc021wbw.1,p.D667fs|uc002wxs.3,p.D666fs|uc010geb.3,p.D558fs	retained_intron, protein_coding, processed_transcript	uc021wbw.1	frameshift deletion	exon13	c.1999delG	p.D667fs	TDEGGGRGSSSGDGGEACGHPEPRG	TDEGGGRGSSSGMVVRPVATLSPGEARAPLESVRQIYSEHNYCRLIL	6.0	4.0	unscreened	-	4186_20:31022514-31022514 G>-_TDEGGGRGSSSGMVVRPVATLSPGEARAPLESVRQIYSEHNYCRLIL
1:33478912-33478912 A>G	1.0	4186	BREAST	-	-	-	-	AK2	NM_001199199,p.L189P|NM_001625,p.L197P|ENST00000548033,p.L155P|uc001bwo.2,p.L197P|uc009vud.2,p.L155P|uc010ohq.2,p.L189P|uc010ohr.2,p.L149P|ENST00000467905,p.L197P|ENST00000373449,p.L197P|ENST00000354858,p.L197P|uc001bwq.2,p.L149P|NM_013411,p.L197P|uc001bwp.2,p.L197P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ohr.2	nonsynonymous SNV	exon7	c.T446C	p.L149P	IRLQAYHTQTTPLIEYYRKRGIHSA	IRLQAYHTQTTPPIEYYRKRGIHSA	10.0	2.0	-	-	4186_1:33478912-33478912 A>G_IRLQAYHTQTTPPIEYYRKRGIHSA
2:96955663-96955663 G>C	0.0	4186	BREAST	-	-	-	-	SNRNP200	ENST00000323853,p.I938M|NM_014014,p.I938M|uc002svu.3,p.I938M	retained_intron, protein_coding, nonsense_mediated_decay	uc002svu.3	nonsynonymous SNV	exon21	c.C2814G	p.I938M	YIRMLRSPTLYGISHDDLKGDPLLD	YIRMLRSPTLYGMSHDDLKGDPLLD	9.0	8.0	-	-	4186_2:96955663-96955663 G>C_YIRMLRSPTLYGMSHDDLKGDPLLD
7:944729-944729 C>G	1.0	4186	BREAST	-	-	-	-	ADAP1	uc003sjn.4,p.E85Q|uc011jvs.2,p.E62Q|ENST00000435943,p.E144Q|uc003sjo.4,p.E157Q|NM_001284308,p.E168Q|ENST00000265846,p.E157Q|uc010ksc.3,p.E85Q|NM_001284310,p.E85Q|NM_001284309,p.E85Q|NM_006869,p.E157Q|ENST00000539900,p.E168Q|ENST00000449296,p.E85Q|NM_001284311,p.E62Q	retained_intron, protein_coding, processed_transcript	uc011jvs.2	nonsynonymous SNV	exon3	c.G184C	p.E62Q	QFLSRKFVLTEREGALKYFNRNDAK	QFLSRKFVLTERQGALKYFNRNDAK	8.0	7.0	-	-	4186_7:944729-944729 C>G_QFLSRKFVLTERQGALKYFNRNDAK
20:32264633-32264633 C>T	0.0	4186	BREAST	-	-	-	-	E2F1	uc002wzu.4,p.E407K|NM_005225,p.E407K|ENST00000343380,p.E407K	protein_coding	uc002wzu.4	nonsynonymous SNV	exon7	c.G1219A	p.E407K	LPEEFISLSPPHEALDYHFGLEEGE	LPEEFISLSPPHKALDYHFGLEEGE	8.0	6.0	-	-	4186_20:32264633-32264633 C>T_LPEEFISLSPPHKALDYHFGLEEGE
10:43613864-43613864 C>G	0.0	4186	BREAST	-	-	-	1	RET	uc010qez.1,p.F522L|NM_020975,p.F776L|uc001jal.3,p.F776L|ENST00000340058,p.F776L|NM_020630,p.F776L|uc001jak.1,p.F776L|ENST00000355710,p.F776L	retained_intron, protein_coding	uc010qez.1	nonsynonymous SNV	exon10	c.C1566G	p.F522L	ASPSELRDLLSEFNVLKQVNHPHVI	ASPSELRDLLSELNVLKQVNHPHVI	7.0	7.0	-	-	4186_10:43613864-43613864 C>G_ASPSELRDLLSELNVLKQVNHPHVI
20:33508478-33508478 A>G	1.0	4186	BREAST	0.0	-	-	-	ACSS2	NM_001076552,p.Y383C|NM_001242393,p.Y275C|uc002xbc.2,p.Y275C|ENST00000253382,p.Y383C|NM_018677,p.Y370C|uc002xbe.2,p.Y78C|uc010gey.2,p.Y383C|uc002xbd.2,p.Y370C|ENST00000360596,p.Y370C|ENST00000336325,p.Y320C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010gey.2	nonsynonymous SNV	exon10	c.A1148G	p.Y383C	DIGWITGHSYVTYGPLANGATSVLF	DIGWITGHSYVTCGPLANGATSVLF	9.0	9.0	-	-	4186_20:33508478-33508478 A>G_DIGWITGHSYVTCGPLANGATSVLF
13:39544455-39544455 G>A	0.0	4186	BREAST	-	-	-	-	STOML3	uc001uwx.3,p.S128L|NM_145286,p.S128L|NM_001144033,p.S119L|ENST00000379631,p.S128L|ENST00000423210,p.S119L|uc010tez.2,p.S119L	protein_coding	uc010tez.2	nonsynonymous SNV	exon6	c.C356T	p.S119L	DGVVYYRIYSAVSAVANVNDVHQAT	DGVVYYRIYSAVLAVANVNDVHQAT	1.0	10.0	-	-	4186_13:39544455-39544455 G>A_DGVVYYRIYSAVLAVANVNDVHQAT
1:206225329-206225329 T>G	0.0	4186	BREAST	-	-	-	-	AVPR1B	uc001hds.2,p.F297V|NM_000707,p.F297V|ENST00000367126,p.F297V	protein_coding	uc001hds.2	nonsynonymous SNV	exon1	c.T889G	p.F297V	VIVLAYIACWAPFFSVQMWSVWDKN	VIVLAYIACWAPVFSVQMWSVWDKN	1.0	1.0	unscreened	-	4186_1:206225329-206225329 T>G_VIVLAYIACWAPVFSVQMWSVWDKN
X:72899545-72899545 G>T	0.0	4186	BREAST	-	-	-	-	CHIC1	NM_001039840,p.E207D|ENST00000498407,p.E200D|uc004ebk.4,p.E207D|ENST00000373502,p.E207D	protein_coding, processed_transcript, nonsense_mediated_decay	uc004ebk.4	nonsynonymous SNV	exon5	c.G621T	p.E207D	LTKRKCETSNMMEYVILIEFLPKYP	LTKRKCETSNMMDYVILIEFLPKYP	1.0	10.0	unscreened	-	4186_X:72899545-72899545 G>T_LTKRKCETSNMMDYVILIEFLPKYP
3:111983134-111983134 A>C	0.0	4186	BREAST	-	-	-	-	SLC9C1	NM_183061,p.L312R|uc003dyu.3,p.L312R|ENST00000305815,p.L312R	protein_coding, processed_transcript, nonsense_mediated_decay	uc003dyu.3	nonsynonymous SNV	exon9	c.T935G	p.L312R	RIAFLMVFTFFGLLIPAHTYLYIEF	RIAFLMVFTFFGRLIPAHTYLYIEF	1.0	6.0	unscreened	-	4186_3:111983134-111983134 A>C_RIAFLMVFTFFGRLIPAHTYLYIEF
2:55464539-55464539 G>C	0.0	4186	BREAST	-	-	-	-	MTIF2	uc002ryn.3,p.F632L|NM_002453,p.F632L|ENST00000403721,p.F632L|ENST00000263629,p.F632L|NM_001005369,p.F632L|uc010yox.2,p.F301L|ENST00000394600,p.F632L|uc002ryo.3,p.F632L	protein_coding, processed_transcript	uc010yox.2	nonsynonymous SNV	exon12	c.C903G	p.F301L	EHPVGEASILATFSVTEGKKKVPVA	EHPVGEASILATLSVTEGKKKVPVA	9.0	3.0	unscreened	-	4186_2:55464539-55464539 G>C_EHPVGEASILATLSVTEGKKKVPVA
1:226044611-226044611 T>C	0.0	4186	BREAST	-	-	-	-	TMEM63A	ENST00000366835,p.K495R|uc001hpm.2,p.K495R|NM_014698,p.K495R	protein_coding, processed_transcript	uc001hpm.2	nonsynonymous SNV	exon16	c.A1484G	p.K495R	VYYSTLLESHWTKSGENQIMMTKVY	VYYSTLLESHWTRSGENQIMMTKVY	10.0	1.0	unscreened	-	4186_1:226044611-226044611 T>C_VYYSTLLESHWTRSGENQIMMTKVY
1:35913784-35913784 ->GTAC	0.0	4186	BREAST	-	-	-	-	KIAA0319L	ENST00000325722,p.T835fs|ENST00000426982,p.T835fs|NM_024874,p.T835fs|uc001byw.3,p.T277fs|uc001byx.3,p.T835fs|ENST00000373266,p.T272fs|uc010ohv.1,p.T477fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ohv.1	frameshift insertion	exon11	c.1428_1429insGTAC	p.T477fs	DSDIIVQKIQPYTEQSTKMVFFVQN	DSDIIVQKIQPYVHGAEHQNGIFCSKRASPPDLQRP	9.0	9.0	unscreened	-	4186_1:35913784-35913784 ->GTAC_DSDIIVQKIQPYVHGAEHQNGIFCSKRASPPDLQRP
9:104238518-104238518 C>T	0.0	4186	BREAST	-	-	-	-	TMEM246	ENST00000374848,p.R286H|ENST00000374851,p.R286H|uc004bbm.3,p.R286H|ENST00000374847,p.R286H|NM_032342,p.R286H|uc022blf.1,p.R286H	protein_coding, processed_transcript	uc022blf.1	nonsynonymous SNV	exon1	c.G857A	p.R286H	PLLTWIYMRFASRPGFSWPVMLFFS	PLLTWIYMRFASHPGFSWPVMLFFS	1.0	10.0	-	-	4186_9:104238518-104238518 C>T_PLLTWIYMRFASHPGFSWPVMLFFS
1:203098028-203098028 C>T	0.0	4186	BREAST	-	-	-	-	ADORA1	NM_000674,p.A20V|NM_001048230,p.A20V|ENST00000367235,p.A20V|uc010pqh.1,p.A53V|ENST00000309502,p.A20V|ENST00000367236,p.A20V|ENST00000337894,p.A20V|uc001gze.1,p.A20V|uc001gzf.1,p.A20V	protein_coding, processed_transcript	uc010pqh.1	nonsynonymous SNV	exon2	c.C158T	p.A53V	FQAAYIGIEVLIALVSVPGNVLVIW	FQAAYIGIEVLIVLVSVPGNVLVIW	7.0	1.0	unscreened	-	4186_1:203098028-203098028 C>T_FQAAYIGIEVLIVLVSVPGNVLVIW
X:122866860-122866860 C>G	0.0	4186	BREAST	-	-	-	-	THOC2	ENST00000245838,p.A5P|ENST00000433883,p.A5P|ENST00000472687,p.A5P|NM_001081550,p.A5P|ENST00000355725,p.A5P|uc004etu.3,p.A5P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004etu.3	nonsynonymous SNV	exon1	c.G13C	p.A5P	MAAAAVVVPAEWIKNWE	MAAAPVVVPAEWIKNWE	8.0	10.0	-	-	4186_X:122866860-122866860 C>G_MAAAPVVVPAEWIKNWE
19:36368635-36368635 C>T	0.0	4186	BREAST	-	-	-	-	APLP1	ENST00000537454,p.S448F|uc002ocg.3,p.S390F|NM_005166,p.S487F|uc002ocf.3,p.S487F|NM_001024807,p.S487F|ENST00000221891,p.S487F|uc002oce.3,p.S487F|uc010xta.2,p.S481F|uc010xsz.2,p.S448F|ENST00000586861,p.S481F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xta.2	nonsynonymous SNV	exon11	c.C1442T	p.S481F	QELRPQIQELLHSEHLGPSELEAPA	QELRPQIQELLHFEHLGPSELEAPA	7.0	3.0	unscreened	-	4186_19:36368635-36368635 C>T_QELRPQIQELLHFEHLGPSELEAPA
1:228675250-228675250 G>C	0.0	4186	BREAST	-	-	-	-	RNF187	NM_001010858,p.E21Q	protein_coding, processed_transcript	NM_001010858	nonsynonymous SNV	exon1	c.G61C	p.E21Q	EAACALCQRAPREPVRADCGHRFCR	EAACALCQRAPRQPVRADCGHRFCR	10.0	3.0	unscreened	-	4186_1:228675250-228675250 G>C_EAACALCQRAPRQPVRADCGHRFCR
1:225555539-225555539 T>A	0.0	4186	BREAST	-	-	-	-	DNAH14	ENST00000439375,p.S3948R|NM_001373,p.S3948R|uc001how.2,p.S3948R|ENST00000430092,p.S3948R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001how.2	nonsynonymous SNV	exon75	c.T11844A	p.S3948R	LKIAVESPQGLKSNLLQTFGCTGSG	LKIAVESPQGLKRNLLQTFGCTGSG	6.0	1.0	unscreened	-	4186_1:225555539-225555539 T>A_LKIAVESPQGLKRNLLQTFGCTGSG
12:13906752-13906752 G>C	0.0	4186	BREAST	-	-	-	-	GRIN2B	NM_000834,p.S170C|ENST00000279593,p.S170C|uc001rbt.2,p.S170C	protein_coding	uc001rbt.2	nonsynonymous SNV	exon3	c.C509G	p.S170C	LNIMEEYDWYIFSIVTTYFPGYQDF	LNIMEEYDWYIFCIVTTYFPGYQDF	1.0	10.0	unscreened	-	4186_12:13906752-13906752 G>C_LNIMEEYDWYIFCIVTTYFPGYQDF
X:23397816-23397816 G>C	0.0	4186	BREAST	-	-	-	-	PTCHD1	uc004dal.4,p.V154L|ENST00000379361,p.V154L|uc010nfu.2,p.V154L|NM_173495,p.V154L	protein_coding	uc010nfu.2	nonsynonymous SNV	exon2	c.G460C	p.V154L	LNNDKTCIVDDIVHVLEELKNARAT	LNNDKTCIVDDILHVLEELKNARAT	1.0	9.0	-	-	4186_X:23397816-23397816 G>C_LNNDKTCIVDDILHVLEELKNARAT
15:75640291-75640291 C>G	0.0	4186	BREAST	-	-	-	-	NEIL1	uc002bae.4,p.P54A|NM_001256552,p.P54A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bae.4	nonsynonymous SNV	exon1	c.C160G	p.P54A	KVRASAVAKCPLPLKAHLRLRFRTA	KVRASAVAKCPLALKAHLRLRFRTA	8.0	9.0	unscreened	-	4186_15:75640291-75640291 C>G_KVRASAVAKCPLALKAHLRLRFRTA
5:140011962-140011962 C>T	1.0	4186	BREAST	-	-	-	-	CD14	NM_001040021,p.D203N|ENST00000302014,p.D203N|NM_000591,p.D203N|uc021yej.1,p.D203N|uc003lgi.2,p.D203N|NM_001174105,p.D203N|NM_001174104,p.D203N|uc021yek.1,p.D203N|uc003lgj.2,p.D203N|ENST00000401743,p.D203N|uc021yel.1,p.D72N	protein_coding	uc021yel.1	nonsynonymous SNV	exon1	c.G214A	p.D72N	RAFPALTSLDLSDNPGLGERGLMAA	RAFPALTSLDLSNNPGLGERGLMAA	9.0	5.0	-	-	4186_5:140011962-140011962 C>T_RAFPALTSLDLSNNPGLGERGLMAA
13:26959447-26959447 T>G	0.0	4186	BREAST	-	-	-	-	CDK8	uc001uqs.1,p.L205R|uc001uqt.1,p.L32R|NM_001260,p.L205R|ENST00000381527,p.L205R|uc001uqr.1,p.L205R	protein_coding, processed_transcript	uc001uqt.1	nonsynonymous SNV	exon5	c.T95G	p.L32R	VVVTFWYRAPELLLGARHYTKAIDI	VVVTFWYRAPELRLGARHYTKAIDI	6.0	4.0	unscreened	-	4186_13:26959447-26959447 T>G_VVVTFWYRAPELRLGARHYTKAIDI
8:56698863-56698863 G>A	0.0	4186	BREAST	-	-	-	-	TGS1	ENST00000260129,p.E136K|uc010lyh.3,p.E40K|uc003xsj.4,p.E136K|NM_024831,p.E136K	retained_intron, protein_coding, nonsense_mediated_decay	uc010lyh.3	nonsynonymous SNV	exon3	c.G118A	p.E40K	IKKKKHQKKYLDEIVQESWRKEYEE	IKKKKHQKKYLDKIVQESWRKEYEE	6.0	9.0	unscreened	-	4186_8:56698863-56698863 G>A_IKKKKHQKKYLDKIVQESWRKEYEE
14:21876494-21876494 C>T	0.0	4186	BREAST	-	-	-	-	CHD8	ENST00000557364,p.E903K|ENST00000399982,p.E903K|ENST00000430710,p.E624K|uc001war.2,p.E903K|NM_020920,p.E624K|uc001was.2,p.E624K|NM_001170629,p.E903K|uc001wav.1,p.E66K	retained_intron, protein_coding, processed_transcript	uc001wav.1	nonsynonymous SNV	exon3	c.G196A	p.E66K	GSLASRQMIQQYEMYCKDSRGRLIP	GSLASRQMIQQYKMYCKDSRGRLIP	8.0	1.0	unscreened	-	4186_14:21876494-21876494 C>T_GSLASRQMIQQYKMYCKDSRGRLIP
16:15180245-15180245 C>T	0.0	4186	BREAST	-	-	-	-	RRN3	ENST00000563559,p.E107K|ENST00000198767,p.E107K|uc002dde.3,p.E107K|uc002ddf.1,p.E107K|ENST00000564131,p.E107K|ENST00000327307,p.E74K|NM_018427,p.E107K	retained_intron, protein_coding	uc002ddf.1	nonsynonymous SNV	exon4	c.G319A	p.E107K	FRSSIMYLTKDFEQLISIILRLPWL	FRSSIMYLTKDFKQLISIILRLPWL	8.0	2.0	unscreened	-	4186_16:15180245-15180245 C>T_FRSSIMYLTKDFKQLISIILRLPWL
1:182787759-182787759 G>C	0.0	4186	BREAST	-	-	-	-	NPL	uc001gpo.2,p.D162H|NM_001200050,p.D162H|uc010pnx.2,p.D162H|uc021pfz.1,p.D181H|NM_001200056,p.D181H|ENST00000367552,p.D181H|NM_001200052,p.D181H|ENST00000367554,p.D162H|NM_030769,p.D181H|uc001gpp.4,p.D181H|ENST00000258317,p.D181H|uc009wyc.3,p.D181H|ENST00000367555,p.D181H|ENST00000367553,p.D181H|uc009wyb.3,p.D181H|NM_001200051,p.D181H	protein_coding, processed_transcript	uc021pfz.1	nonsynonymous SNV	exon9	c.G541C	p.D181H	FQGLKFSDTDLLDFGQCVDQNRQQQ	FQGLKFSDTDLLHFGQCVDQNRQQQ	8.0	5.0	-	-	4186_1:182787759-182787759 G>C_FQGLKFSDTDLLHFGQCVDQNRQQQ
9:88247668-88247668 C>T	0.0	4186	BREAST	-	-	-	-	AGTPBP1	NM_015239,p.E602K|uc011ltd.2,p.E642K|ENST00000432218,p.E480K|uc011lte.2,p.E654K|ENST00000357081,p.E642K|ENST00000376083,p.E602K|NM_001286715,p.E694K|ENST00000376109,p.E654K|uc004aod.4,p.E268K|uc011ltc.2,p.E540K|uc010mqc.3,p.E602K|NM_001286717,p.E654K	protein_coding, processed_transcript	uc011lte.2	nonsynonymous SNV	exon13	c.G1960A	p.E654K	YIEIVKNTKSVPEYSEVAYPDYFGH	YIEIVKNTKSVPKYSEVAYPDYFGH	5.0	5.0	-	-	4186_9:88247668-88247668 C>T_YIEIVKNTKSVPKYSEVAYPDYFGH
4:38799504-38799504 T>G	0.0	4186	BREAST	-	-	-	-	TLR1	ENST00000502213,p.S317R|NM_003263,p.S317R|uc003gtl.3,p.S317R|uc021xnn.1,p.S317R|ENST00000308979,p.S317R	protein_coding, processed_transcript	uc021xnn.1	nonsynonymous SNV	exon1	c.A949C	p.S317R	HQVVSDVFGFPQSYIYEIFSNMNIK	HQVVSDVFGFPQRYIYEIFSNMNIK	4.0	5.0	unscreened	-	4186_4:38799504-38799504 T>G_HQVVSDVFGFPQRYIYEIFSNMNIK
8:116631552-116631552 T>G	0.0	4186	BREAST	-	-	-	-	TRPS1	NM_001282902,p.K249T|NM_014112,p.K258T|ENST00000517323,p.K249T|ENST00000220888,p.K245T|ENST00000519674,p.K245T|uc010mcy.3,p.K245T|ENST00000395715,p.K258T|NM_001282903,p.K251T|uc011lhy.2,p.K249T|ENST00000520276,p.K249T|uc003yny.3,p.K258T|uc003ynz.3,p.K245T|ENST00000519076,p.K199T	protein_coding, nonsense_mediated_decay	uc011lhy.2	nonsynonymous SNV	exon2	c.A746C	p.K249T	GNDPTDLIKHFRKYHLGLHNRTRQD	GNDPTDLIKHFRTYHLGLHNRTRQD	8.0	10.0	-	-	4186_8:116631552-116631552 T>G_GNDPTDLIKHFRTYHLGLHNRTRQD
21:42617902-42617902 A>T	0.0	4186	BREAST	-	-	-	-	BACE2	NM_012105,p.K299M|ENST00000330333,p.K299M|ENST00000347667,p.K299M|ENST00000328735,p.K299M|uc002yyy.3,p.K299M|NM_138992,p.K299M|uc002yyx.3,p.K299M|uc002yyw.3,p.K299M|NM_138991,p.K299M	retained_intron, protein_coding, processed_transcript	uc002yyy.3	nonsynonymous SNV	exon6	c.A896T	p.K299M	SLNLDCREYNADKAIVDSGTTLLRL	SLNLDCREYNADMAIVDSGTTLLRL	9.0	5.0	unscreened	-	4186_21:42617902-42617902 A>T_SLNLDCREYNADMAIVDSGTTLLRL
20:3329191-3329191 G>A	0.0	4186	BREAST	-	-	-	-	C20orf194	ENST00000252032,p.S257L|uc002wii.3,p.S257L|NM_001009984,p.S257L	protein_coding, processed_transcript	uc002wii.3	nonsynonymous SNV	exon8	c.C770T	p.S257L	NFDTEIPFLLELSESQAGEPFRSYF	NFDTEIPFLLELLESQAGEPFRSYF	5.0	1.0	unscreened	-	4186_20:3329191-3329191 G>A_NFDTEIPFLLELLESQAGEPFRSYF
2:220353321-220353321 C>G	0.0	4186	BREAST	-	-	-	-	SPEG	uc010fwg.3,p.L2654V|NM_005876,p.L2654V|ENST00000312358,p.L2654V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fwg.3	nonsynonymous SNV	exon33	c.C7960G	p.L2654V	LSIPRAGKRHAGLYECSATNVLGSI	LSIPRAGKRHAGVYECSATNVLGSI	7.0	7.0	-	-	4186_2:220353321-220353321 C>G_LSIPRAGKRHAGVYECSATNVLGSI
1:161017827-161017827 A>T	0.0	4186	BREAST	-	-	-	-	ARHGAP30	uc001fxl.3,p.L995H|uc001fxk.3,p.L784H|uc001fxm.3,p.L841H|ENST00000368016,p.L784H|ENST00000368015,p.L818H|ENST00000368013,p.L995H|NM_001025598,p.L995H|NM_001287600,p.L847H|NM_001287602,p.L818H|uc009wtx.3,p.L668H|NM_181720,p.L784H	retained_intron, protein_coding, nonsense_mediated_decay	uc009wtx.3	nonsynonymous SNV	exon10	c.T2003A	p.L668H	RASRSSWRNGGSLSFDAAVALARDR	RASRSSWRNGGSHSFDAAVALARDR	4.0	6.0	unscreened	-	4186_1:161017827-161017827 A>T_RASRSSWRNGGSHSFDAAVALARDR
3:195508165-195508165 C>A	0.0	4186	BREAST	-	-	-	2	MUC4	NM_018406,p.S3429I|ENST00000479406,p.S3429I|ENST00000475231,p.S3429I|ENST00000466475,p.S3429I|ENST00000477756,p.S3429I|ENST00000477086,p.S3429I|ENST00000462323,p.S3429I|ENST00000470451,p.S3429I|ENST00000480843,p.S3429I|ENST00000478156,p.S3429I|uc021xjp.1,p.S3429I|ENST00000463781,p.S3429I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G10286T	p.S3429I	ASTGHATPLPVTSTSSASTGHATPV	ASTGHATPLPVTITSSASTGHATPV	1.0	1.0	unscreened	-	4186_3:195508165-195508165 C>A_ASTGHATPLPVTITSSASTGHATPV
10:71973243-71973243 C>T	1.0	4186	BREAST	-	-	-	-	PPA1	ENST00000373230,p.D163N	protein_coding, processed_transcript	ENST00000373230	nonsynonymous SNV	exon6	c.G487A	p.D163N	ETDWKVIAINVDDPDAANYNVCNSV	ETDWKVIAINVDNPDAANYNVCNSV	10.0	2.0	-	-	4186_10:71973243-71973243 C>T_ETDWKVIAINVDNPDAANYNVCNSV
1:196642140-196642140 G>A	0.0	4186	BREAST	-	-	-	-	CFH	ENST00000359637,p.E31K|uc001gtj.4,p.E31K|NM_001014975,p.E31K|NM_000186,p.E31K|uc009wyx.3,p.E31K|ENST00000439155,p.E31K|ENST00000367429,p.E31K|uc001gti.4,p.E31K|uc009wyw.3,p.E31K	retained_intron, protein_coding, ambiguous_orf	uc009wyx.3	nonsynonymous SNV	exon2	c.G91A	p.E31K	EDCNELPPRRNTEILTGSWSDQTYP	EDCNELPPRRNTKILTGSWSDQTYP	4.0	1.0	unscreened	-	4186_1:196642140-196642140 G>A_EDCNELPPRRNTKILTGSWSDQTYP
1:223178211-223178211 T>G	0.0	4186	BREAST	-	-	-	-	DISP1	NM_032890,p.L1158V|uc001hnu.2,p.L1158V|ENST00000284476,p.L1158V	protein_coding, processed_transcript	uc001hnu.2	nonsynonymous SNV	exon10	c.T3472G	p.L1158V	PKKLQCSAFSHALSTSPSDKGQSKT	PKKLQCSAFSHAVSTSPSDKGQSKT	5.0	1.0	unscreened	-	4186_1:223178211-223178211 T>G_PKKLQCSAFSHAVSTSPSDKGQSKT
9:139391391-139391391 T>C	0.0	4186	BREAST	-	-	-	1	NOTCH1	NM_017617,p.E2267G|uc004chz.3,p.E2267G|ENST00000277541,p.E2267G	protein_coding, processed_transcript	uc004chz.3	nonsynonymous SNV	exon34	c.A6800G	p.E2267G	MAALGGGGRLAFETGPPRLSHLPVA	MAALGGGGRLAFGTGPPRLSHLPVA	5.0	6.0	unscreened	-	4186_9:139391391-139391391 T>C_MAALGGGGRLAFGTGPPRLSHLPVA
5:161128679-161128679 C>T	0.0	4186	BREAST	-	-	-	-	GABRA6	NM_000811,p.S421F|ENST00000523217,p.S411F|uc003lyv.2,p.S192F|ENST00000274545,p.S421F|uc003lyu.2,p.S421F	retained_intron, protein_coding, processed_transcript	uc003lyv.2	nonsynonymous SNV	exon3	c.C575T	p.S192F	PAFGGTSKIDQYSRILFPVAFAGFN	PAFGGTSKIDQYFRILFPVAFAGFN	1.0	8.0	-	-	4186_5:161128679-161128679 C>T_PAFGGTSKIDQYFRILFPVAFAGFN
16:5140244-5140244 C>G	0.0	4186	BREAST	-	-	-	-	FAM86A	uc002cyp.2,p.E161Q|ENST00000587133,p.E134Q|NM_201400,p.E195Q|uc002cyo.2,p.E195Q|ENST00000427587,p.E195Q|NM_201598,p.E161Q|NM_001289029,p.E134Q|ENST00000458008,p.E161Q	retained_intron, protein_coding, nonsense_mediated_decay	uc002cyp.2	nonsynonymous SNV	exon5	c.G481C	p.E161Q	AYIFSDCHSRVLEQLRGNVLLNGLS	AYIFSDCHSRVLQQLRGNVLLNGLS	9.0	2.0	unscreened	-	4186_16:5140244-5140244 C>G_AYIFSDCHSRVLQQLRGNVLLNGLS
11:20119131-20119131 C>G	0.0	4186	BREAST	-	-	-	-	NAV2	ENST00000533917,p.I1071M|uc009yhz.3,p.I652M|ENST00000349880,p.I2007M|ENST00000311043,p.I1071M|NM_001111019,p.I1071M|uc031pzj.1,p.I2066M|NM_145117,p.I2007M|NM_001111018,p.I1943M|ENST00000540292,p.I1997M|ENST00000396085,p.I2010M|NM_001244963,p.I2066M|uc009yhx.4,p.I1071M|NM_182964,p.I2010M|ENST00000396087,p.I2066M|uc021qew.1,p.I2010M|ENST00000360655,p.I1943M|ENST00000527559,p.I1995M|uc001mpp.3,p.I1943M|uc001mpu.3,p.I445M	retained_intron, protein_coding, processed_transcript	uc031pzj.1	nonsynonymous SNV	exon34	c.C6198G	p.I2066M	LDGVVRRLFKEYIIHVDPVSQLGLN	LDGVVRRLFKEYMIHVDPVSQLGLN	3.0	5.0	unscreened	-	4186_11:20119131-20119131 C>G_LDGVVRRLFKEYMIHVDPVSQLGLN
18:6912121-6912121 G>A	0.0	4186	BREAST	-	-	ID=COSM1710955;OCCURENCE=1(skin)	-	ARHGAP28	uc002kne.3,p.E561K|ENST00000314319,p.E561K|ENST00000383472,p.E720K|ENST00000531294,p.E556K|uc010wzi.2,p.E543K|NM_001010000,p.E561K|ENST00000419673,p.E561K	retained_intron, protein_coding, nonsense_mediated_decay	uc010wzi.2	nonsynonymous SNV	exon17	c.G1627A	p.E543K	YILDVYRINPQAEWVIKPQQSS	YILDVYRINPQAKWVIKPQQSS	2.0	6.0	unscreened	-	4186_18:6912121-6912121 G>A_YILDVYRINPQAKWVIKPQQSS
20:47602101-47602101 G>A	0.0	4186	BREAST	-	-	-	-	ARFGEF2	uc002xtx.4,p.D743N|uc010zyf.2,p.D36N|ENST00000371917,p.D743N|NM_006420,p.D743N	protein_coding, processed_transcript	uc010zyf.2	nonsynonymous SNV	exon2	c.G106A	p.D36N	EGFRLPGEAQKIDRLMEKFAARYIE	EGFRLPGEAQKINRLMEKFAARYIE	7.0	2.0	unscreened	-	4186_20:47602101-47602101 G>A_EGFRLPGEAQKINRLMEKFAARYIE
3:151155762-151155762 C>A	0.0	4186	BREAST	-	-	-	-	IGSF10	NM_178822,p.G2196V|NM_001178145,p.G223V|uc011bob.2,p.G223V|NM_001178146,p.G175V|ENST00000282466,p.G2196V|uc011bod.2,p.G2196V|uc011boc.2,p.G175V	protein_coding, processed_transcript	uc011bod.2	nonsynonymous SNV	exon6	c.G6587T	p.G2196V	SFSIDRYTFHANGSLTINKVKLLDS	SFSIDRYTFHANVSLTINKVKLLDS	1.0	3.0	unscreened	-	4186_3:151155762-151155762 C>A_SFSIDRYTFHANVSLTINKVKLLDS
X:100912019-100912019 C>T	0.0	4186	BREAST	-	-	-	-	ARMCX2	ENST00000330154,p.E186K|NM_177949,p.E186K|uc004eif.3,p.E186K|NM_014782,p.E186K|uc004eid.2,p.E186K|uc004eig.3,p.E186K|uc022caq.1,p.E186K|NM_001282231,p.E186K|ENST00000356824,p.E186K|uc004eie.3,p.E186K|uc010nnt.2,p.E186K|ENST00000328766,p.E186K	protein_coding, processed_transcript	uc022caq.1	nonsynonymous SNV	exon1	c.G556A	p.E186K	RAAVPPGTVVPTEAAAPTEVTEGPG	RAAVPPGTVVPTKAAAPTEVTEGPG	8.0	10.0	-	-	4186_X:100912019-100912019 C>T_RAAVPPGTVVPTKAAAPTEVTEGPG
6:56966250-56966250 G>A	0.0	4186	BREAST	-	-	-	-	ZNF451	uc003pdo.4,p.G283S|ENST00000370708,p.G346S|NM_001257273,p.G346S|uc011dxn.3,p.G346S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxn.3	nonsynonymous SNV	exon4	c.G1036A	p.G346S	DTSPFQPNPPAEGPIVEALEHSKRG	DTSPFQPNPPAESPIVEALEHSKRG	8.0	9.0	-	-	4186_6:56966250-56966250 G>A_DTSPFQPNPPAESPIVEALEHSKRG
11:10777291-10777291 C>A	0.0	4186	BREAST	-	-	-	-	CTR9	uc001mja.3,p.Q151K|ENST00000524523,p.Q138K|ENST00000361367,p.Q151K|NM_014633,p.Q151K	retained_intron, protein_coding	uc001mja.3	nonsynonymous SNV	exon4	c.C451A	p.Q151K	LLEGDKMDQADAQFHFVLNQSPNNI	LLEGDKMDQADAKFHFVLNQSPNNI	7.0	7.0	-	-	4186_11:10777291-10777291 C>A_LLEGDKMDQADAKFHFVLNQSPNNI
17:37587375-37587375 C>G	0.0	4186	BREAST	-	-	-	-	MED1	uc010wee.2,p.R42S|ENST00000300651,p.R214S|ENST00000394287,p.R214S|uc002hrv.4,p.R214S|NM_004774,p.R214S|uc002hru.2,p.R214S	retained_intron, protein_coding, nonsense_mediated_decay	uc010wee.2	nonsynonymous SNV	exon8	c.G126C	p.R42S	KILHGSVGYLTPRSGGHLMNLKYYV	KILHGSVGYLTPSSGGHLMNLKYYV	6.0	8.0	-	-	4186_17:37587375-37587375 C>G_KILHGSVGYLTPSSGGHLMNLKYYV
6:13977957-13977957 T>G	0.0	4186	BREAST	-	-	-	-	RNF182	ENST00000544682,p.L203V|uc003nbe.3,p.L203V|NM_152737,p.L203V|NM_001165033,p.L203V|ENST00000488300,p.L203V|NM_001165032,p.L203V|uc003nbf.3,p.L203V|ENST00000537388,p.L203V|ENST00000537663,p.L203V|uc021ylw.1,p.L203V|uc003nbg.3,p.L203V|uc021ylx.1,p.L203V|uc021yly.1,p.L203V|NM_001165034,p.L203V	protein_coding	uc021yly.1	nonsynonymous SNV	exon1	c.T607G	p.L203V	LLYFSSLPLGIYLLVSKKVTLGVVF	LLYFSSLPLGIYVLVSKKVTLGVVF	1.0	5.0	-	-	4186_6:13977957-13977957 T>G_LLYFSSLPLGIYVLVSKKVTLGVVF
16:61854870-61854870 G>A	0.0	4186	BREAST	-	-	-	-	CDH8	ENST00000577730,p.S328F|ENST00000584337,p.S328F|NM_001796,p.S328F|uc002eog.2,p.S328F|ENST00000585315,p.S328F|ENST00000299345,p.S328F|ENST00000577390,p.S328F|ENST00000583382,p.S328F|uc002eoh.3,p.S97F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002eoh.3	nonsynonymous SNV	exon3	c.C290T	p.S97F	IDGDGTALFEITSDAQAQDGIIRLR	IDGDGTALFEITFDAQAQDGIIRLR	1.0	10.0	-	-	4186_16:61854870-61854870 G>A_IDGDGTALFEITFDAQAQDGIIRLR
14:95918626-95918626 G>A	0.0	4186	BREAST	-	-	-	-	SYNE3	uc001yej.1,p.P411L|uc010avi.3,p.P411L|ENST00000557275,p.P411L|uc001yei.4,p.P411L|ENST00000554873,p.P168L|ENST00000334258,p.P411L|NM_152592,p.P411L|ENST00000553340,p.P411L	retained_intron, protein_coding	uc010avi.3	nonsynonymous SNV	exon6	c.C1232T	p.P411L	LKELIVFPHNLKPLSDSVIATIQEY	LKELIVFPHNLKLLSDSVIATIQEY	2.0	4.0	-	-	4186_14:95918626-95918626 G>A_LKELIVFPHNLKLLSDSVIATIQEY
16:5061249-5061249 G>A	0.0	4186	BREAST	-	-	-	-	SEC14L5	uc002cye.2,p.E652K|NM_014692,p.E652K|ENST00000251170,p.E652K	protein_coding	uc002cye.2	nonsynonymous SNV	exon15	c.G1954A	p.E652K	SPGPKCKLLYYCEVLASEDFRGSMS	SPGPKCKLLYYCKVLASEDFRGSMS	1.0	2.0	unscreened	-	4186_16:5061249-5061249 G>A_SPGPKCKLLYYCKVLASEDFRGSMS
20:139630-139630 G>C	0.0	4186	BREAST	-	-	-	-	DEFB127	uc002wcy.2,p.E89Q|NM_139074,p.E89Q|ENST00000382388,p.E89Q	protein_coding	uc002wcy.2	nonsynonymous SNV	exon2	c.G265C	p.E89Q	LALTLQDYVTIIENFPSLKTQST	LALTLQDYVTIIQNFPSLKTQST	1.0	3.0	unscreened	-	4186_20:139630-139630 G>C_LALTLQDYVTIIQNFPSLKTQST
5:180551449-180551449 G>C	0.0	4186	BREAST	-	-	-	-	OR2V1	uc031smg.1,p.L286V|ENST00000329365,p.L286V|NM_001258283,p.L286V	protein_coding	uc031smg.1	nonsynonymous SNV	exon1	c.C856G	p.L286V	VASIFYTVLTPMLNPLIYSLRNGEV	VASIFYTVLTPMVNPLIYSLRNGEV	1.0	4.0	unscreened	-	4186_5:180551449-180551449 G>C_VASIFYTVLTPMVNPLIYSLRNGEV
3:132247075-132247075 G>A	0.0	4186	BREAST	0.0009	-	-	-	DNAJC13	uc003eor.3,p.E2142K|ENST00000260818,p.E2142K|NM_015268,p.E2142K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003eor.3	nonsynonymous SNV	exon54	c.G6424A	p.E2142K	KADLVPYLLKLLEGIGLENLDSPAA	KADLVPYLLKLLKGIGLENLDSPAA	5.0	6.0	-	-	4186_3:132247075-132247075 G>A_KADLVPYLLKLLKGIGLENLDSPAA
14:24780394-24780394 C>G	0.0	4186	BREAST	-	-	-	-	LTB4R2	uc001wor.3,p.P175R|NM_001164692,p.P175R|NM_019839,p.P175R|ENST00000530080,p.P175R|uc010alo.3,p.P175R|ENST00000543919,p.P175R|uc021rrp.1,p.P175R|ENST00000533293,p.P175R|ENST00000528054,p.P206R	protein_coding	uc021rrp.1	nonsynonymous SNV	exon1	c.C524G	p.P175R	WRDRVCQLCHPSPVHAAAHLSLETL	WRDRVCQLCHPSRVHAAAHLSLETL	5.0	9.0	-	-	4186_14:24780394-24780394 C>G_WRDRVCQLCHPSRVHAAAHLSLETL
2:220422584-220422584 G>A	0.0	4186	BREAST	-	-	-	-	OBSL1	NM_015311,p.P1251S|uc010zli.1,p.P150S|ENST00000404537,p.P1251S|ENST00000265317,p.P242S|uc010fwk.3,p.P1251S|uc002vmh.1,p.P242S|NM_001173431,p.P1251S|uc010fwl.2,p.P1251S|ENST00000373876,p.P1251S|ENST00000603926,p.P1251S|ENST00000265318,p.P1159S	retained_intron, protein_coding, processed_transcript	uc010zli.1	nonsynonymous SNV	exon3	c.C448T	p.P150S	HAGLYTCQSGAAPGAPSLSFTVQVA	HAGLYTCQSGAASGAPSLSFTVQVA	7.0	10.0	-	-	4186_2:220422584-220422584 G>A_HAGLYTCQSGAASGAPSLSFTVQVA
19:39002982-39002982 C>T	0.0	4186	BREAST	-	-	-	-	RYR1	ENST00000355481,p.R3111W|NM_001042723,p.R3111W|uc002oiu.3,p.R3111W|ENST00000359596,p.R3111W|uc010xuf.1,p.R31W|NM_000540,p.R3111W|ENST00000360985,p.R3111W|uc002oit.3,p.R3111W	retained_intron, protein_coding, nonsense_mediated_decay	uc010xuf.1	nonsynonymous SNV	exon2	c.C91T	p.R31W	ASEDIEKMVENLRLGKVSQARTQVK	ASEDIEKMVENLWLGKVSQARTQVK	1.0	9.0	-	-	4186_19:39002982-39002982 C>T_ASEDIEKMVENLWLGKVSQARTQVK
2:73680250-73680250 C>T	0.0	4186	BREAST	-	-	-	-	ALMS1	uc002sjf.1,p.S2156L|uc002sjh.1,p.S1586L|ENST00000377715,p.S2198L|ENST00000423048,p.S476L|uc002sjg.3,p.S1586L|ENST00000264448,p.S2198L|ENST00000409009,p.S2156L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002sjh.1	nonsynonymous SNV	exon1	c.C4757T	p.S1586L	GTYSHGENHKLVSEHVQRLIDNLNS	GTYSHGENHKLVLEHVQRLIDNLNS	6.0	9.0	-	-	4186_2:73680250-73680250 C>T_GTYSHGENHKLVLEHVQRLIDNLNS
3:130399533-130399533 T>C	0.0	4186	BREAST	-	-	ID=COSM3767247;OCCURENCE=1(liver)	-	PIK3R4	uc003enj.3,p.Y1277C|ENST00000356763,p.Y1277C|NM_014602,p.Y1277C	retained_intron, protein_coding, processed_transcript	uc003enj.3	nonsynonymous SNV	exon19	c.A3830G	p.Y1277C	IRFWDLAYPERSYVVAGSTSSPSVS	IRFWDLAYPERSCVVAGSTSSPSVS	5.0	4.0	unscreened	-	4186_3:130399533-130399533 T>C_IRFWDLAYPERSCVVAGSTSSPSVS
17:19641731-19641731 T>A	0.0	4186	BREAST	-	-	-	-	ALDH3A1	NM_000691,p.S418C|NM_001135167,p.S418C|ENST00000457500,p.S418C|ENST00000395555,p.S354C|ENST00000494157,p.S345C|uc010cqu.3,p.S418C|uc010cqv.3,p.S417C|ENST00000225740,p.S418C|NM_001135168,p.S418C|uc002gwk.3,p.S535C|uc002gwl.1,p.S345C|ENST00000444455,p.S418C|uc002gwj.3,p.S418C|uc010vzd.2,p.S418C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vzd.2	nonsynonymous SNV	exon10	c.A1252T	p.S418C	GNSGMGSYHGKKSFETFSHRRSCLV	GNSGMGSYHGKKCFETFSHRRSCLV	1.0	9.0	unscreened	-	4186_17:19641731-19641731 T>A_GNSGMGSYHGKKCFETFSHRRSCLV
3:169988249-169988249 T>G	0.0	4186	BREAST	-	-	-	-	PRKCI	ENST00000295797,p.L164R|uc003fgs.2,p.L164R|NM_002740,p.L164R	retained_intron, protein_coding	uc003fgs.2	nonsynonymous SNV	exon6	c.T491G	p.L164R	AHCAICTDRIWGLGRQGYKCINCKL	AHCAICTDRIWGRGRQGYKCINCKL	8.0	1.0	unscreened	-	4186_3:169988249-169988249 T>G_AHCAICTDRIWGRGRQGYKCINCKL
2:73678780-73678780 C>T	0.0	4186	BREAST	-	-	-	-	ALMS1	ENST00000377715,p.S1708F|uc002sjh.1,p.S1096F|ENST00000264448,p.S1708F|uc002sjf.1,p.S1666F|uc002sjg.3,p.S1096F|ENST00000409009,p.S1666F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002sjh.1	nonsynonymous SNV	exon1	c.C3287T	p.S1096F	PDAQKTETPSVSSSLYSYREKPIVF	PDAQKTETPSVSFSLYSYREKPIVF	6.0	8.0	-	-	4186_2:73678780-73678780 C>T_PDAQKTETPSVSFSLYSYREKPIVF
1:184006484-184006484 G>A	0.0	4186	BREAST	-	-	-	-	COLGALT2	ENST00000361927,p.A3V|uc001gqr.3,p.A3V|NM_015101,p.A3V|ENST00000546159,p.A3V|uc010poj.1,p.A3V	protein_coding, ambiguous_orf	uc010poj.1	nonsynonymous SNV	exon1	c.C8T	p.A3V	MAARPAATLAWSLLL	MAVRPAATLAWSLLL	1.0	2.0	unscreened	-	4186_1:184006484-184006484 G>A_MAVRPAATLAWSLLL
4:95496823-95496823 A>C	0.0	4186	BREAST	-	-	-	-	PDLIM5	ENST00000317968,p.K116N|uc003hti.4,p.K116N|NM_006457,p.K116N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003hti.4	nonsynonymous SNV	exon5	c.A348C	p.K116N	VKPVPITSPAVSKVTSTNNMAYNKA	VKPVPITSPAVSNVTSTNNMAYNKA	7.0	7.0	-	-	4186_4:95496823-95496823 A>C_VKPVPITSPAVSNVTSTNNMAYNKA
8:67873736-67873736 C>G	0.0	4186	BREAST	-	-	-	-	TCF24	uc022avl.1,p.D89H|ENST00000563496,p.D89H|NM_001193502,p.D89H	protein_coding, processed_transcript	uc022avl.1	nonsynonymous SNV	exon3	c.G265C	p.D89H	PSVPPDTKLSKLDVLLLATTYIAHL	PSVPPDTKLSKLHVLLLATTYIAHL	1.0	9.0	unscreened	-	4186_8:67873736-67873736 C>G_PSVPPDTKLSKLHVLLLATTYIAHL
19:2222519-2222519 C>G	0.0	4186	BREAST	-	-	-	-	DOT1L	NM_032482,p.F1117L|ENST00000398665,p.F1117L|uc002lvb.4,p.F1117L|uc002lvc.1,p.F411L	retained_intron, protein_coding, processed_transcript	uc002lvc.1	nonsynonymous SNV	exon10	c.C1233G	p.F411L	PKRRALPSVAGLFTQPSGSPLNLNS	PKRRALPSVAGLLTQPSGSPLNLNS	5.0	2.0	unscreened	-	4186_19:2222519-2222519 C>G_PKRRALPSVAGLLTQPSGSPLNLNS
22:41572907-41572907 G>A	0.0	4186	BREAST	-	-	-	1	EP300	ENST00000263253,p.R1731H|uc003azl.4,p.R1731H|NM_001429,p.R1731H	protein_coding	uc003azl.4	nonsynonymous SNV	exon31	c.G5192A	p.R1731H	QQAAATQSPGDSRRLSIQRCIQSLV	QQAAATQSPGDSHRLSIQRCIQSLV	4.0	9.0	-	-	4186_22:41572907-41572907 G>A_QQAAATQSPGDSHRLSIQRCIQSLV
2:74760778-74760778 C>G	0.0	4186	BREAST	-	-	-	-	LOXL3	NM_032603,p.R739S|uc010ffm.1,p.R683S|ENST00000264094,p.R739S|uc002smq.1,p.R594S|ENST00000409549,p.R683S|NM_001289165,p.R378S|ENST00000393937,p.R594S|uc002smp.1,p.R739S|ENST00000409249,p.R457S|uc002smo.1,p.R378S|NM_001289164,p.R594S	retained_intron, protein_coding, processed_transcript	uc010ffm.1	nonsynonymous SNV	exon12	c.G2049C	p.R683S	CHIGDAFSEEANRRFERYPGQTSNQ	CHIGDAFSEEANSRFERYPGQTSNQ	7.0	8.0	-	-	4186_2:74760778-74760778 C>G_CHIGDAFSEEANSRFERYPGQTSNQ
19:53741292-53741292 G>A	0.0	4186	BREAST	-	-	ID=COSM1612730;OCCURENCE=2(liver)	-	ZNF677	uc002qbf.1,p.P230S|ENST00000598513,p.P230S|NM_182609,p.P230S|ENST00000333952,p.P230S|uc002qbg.1,p.P230S	retained_intron, protein_coding, processed_transcript	uc002qbg.1	nonsynonymous SNV	exon5	c.C688T	p.P230S	EKSINSSSVSPLPPCVKNICNKYRK	EKSINSSSVSPLSPCVKNICNKYRK	6.0	2.0	unscreened	-	4186_19:53741292-53741292 G>A_EKSINSSSVSPLSPCVKNICNKYRK
3:53753793-53753793 C>T	0.0	4186	BREAST	-	-	-	1	CACNA1D	NM_001128839,p.S497L|ENST00000422281,p.S497L|ENST00000350061,p.S497L|uc003dgy.5,p.S497L|NM_001128840,p.S497L|uc003dgv.5,p.S497L	retained_intron, protein_coding, processed_transcript	uc003dgy.5	nonsynonymous SNV	exon11	c.C1490T	p.S497L	NRGCCGSLCQAISKSKLSRRWRRWN	NRGCCGSLCQAILKSKLSRRWRRWN	6.0	10.0	-	-	4186_3:53753793-53753793 C>T_NRGCCGSLCQAILKSKLSRRWRRWN
14:51411033-51411033 T>G	0.0	4186	BREAST	-	-	-	-	PYGL	ENST00000532462,p.K30T|ENST00000544180,p.K30T|NM_001163940,p.K30T|NM_002863,p.K30T|ENST00000216392,p.K30T|uc001wyu.3,p.K30T|uc010tqq.2,p.K30T|uc001wyw.4,p.K30T	retained_intron, protein_coding, nonsense_mediated_decay	uc010tqq.2	nonsynonymous SNV	exon1	c.A89C	p.K30T	GIVGVENVAELKKSFNRHLHFTLVK	GIVGVENVAELKTSFNRHLHFTLVK	5.0	3.0	-	-	4186_14:51411033-51411033 T>G_GIVGVENVAELKTSFNRHLHFTLVK
1:158151415-158151415 G>A	0.0	4186	BREAST	-	-	-	-	CD1D	uc009wss.3,p.D78N|uc009wsr.1,p.D78N|uc001frr.3,p.D78N|ENST00000368171,p.D78N|NM_001766,p.D78N	protein_coding	uc009wss.3	nonsynonymous SNV	exon2	c.G232A	p.D78N	RSLKPWSQGTFSDQQWETLQHIFRV	RSLKPWSQGTFSNQQWETLQHIFRV	1.0	10.0	-	-	4186_1:158151415-158151415 G>A_RSLKPWSQGTFSNQQWETLQHIFRV
20:44581151-44581151 C>A	0.0	4186	BREAST	-	-	-	-	ZNF335	uc002xqw.3,p.D942Y|ENST00000426788,p.D787Y|uc010zxk.2,p.D787Y|ENST00000322927,p.D942Y|NM_022095,p.D942Y|uc002xqv.3,p.D54Y	protein_coding, processed_transcript	uc010zxk.2	nonsynonymous SNV	exon17	c.G2359T	p.D787Y	DGTQLHHIELTADGSISFPSPDALA	DGTQLHHIELTAYGSISFPSPDALA	5.0	6.0	-	-	4186_20:44581151-44581151 C>A_DGTQLHHIELTAYGSISFPSPDALA
2:167301300-167301300 G>A	0.0	4186	BREAST	-	-	-	-	SCN7A	ENST00000409855,p.T533I|uc002udu.2,p.T533I|ENST00000419992,p.T533I|ENST00000424326,p.T533I|NM_002976,p.T533I	retained_intron, protein_coding, nonsense_mediated_decay	uc002udu.2	nonsynonymous SNV	exon12	c.C1598T	p.T533I	FLTLEHYPMSKQTNTLLNIGNLVFI	FLTLEHYPMSKQINTLLNIGNLVFI	1.0	2.0	unscreened	-	4186_2:167301300-167301300 G>A_FLTLEHYPMSKQINTLLNIGNLVFI
2:105858842-105858842 C>T	0.0	4186	BREAST	-	-	-	-	GPR45	uc002tco.1,p.P176L|ENST00000258456,p.P176L|NM_007227,p.P176L	protein_coding	uc002tco.1	nonsynonymous SNV	exon1	c.C527T	p.P176L	GPSLTGWTLVEVPARAPQCVLGYTE	GPSLTGWTLVEVLARAPQCVLGYTE	1.0	8.0	-	-	4186_2:105858842-105858842 C>T_GPSLTGWTLVEVLARAPQCVLGYTE
8:12594212-12594212 C>T	0.0	4186	BREAST	-	-	-	-	LONRF1	uc003wwd.1,p.M483I|ENST00000524526,p.M86I|uc011kxv.1,p.M72I|ENST00000533751,p.M126I|ENST00000398246,p.M483I|NM_152271,p.M483I|uc010lsp.1,p.M83I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kxv.1	nonsynonymous SNV	exon2	c.G216A	p.M72I	LIDVSDFECSLCMRLFFEPVTTPCG	LIDVSDFECSLCIRLFFEPVTTPCG	2.0	2.0	unscreened	-	4186_8:12594212-12594212 C>T_LIDVSDFECSLCIRLFFEPVTTPCG
12:6457064-6457064 G>A	0.0	4186	BREAST	-	-	-	-	SCNN1A	NM_001159576,p.S721F|NM_001038,p.S662F|ENST00000358945,p.S684F|ENST00000360168,p.S721F|ENST00000540037,p.S362F|NM_001159575,p.S685F|uc001qnv.3,p.S362F|uc001qnw.3,p.S721F|ENST00000228916,p.S662F|uc010sfb.2,p.S685F|ENST00000543768,p.S685F|uc001qnx.3,p.S662F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010sfb.2	nonsynonymous SNV	exon13	c.C2054T	p.S685F	RPSPGGSAGASSSTCPLGGP	RPSPGGSAGASSFTCPLGGP	8.0	10.0	unscreened	-	4186_12:6457064-6457064 G>A_RPSPGGSAGASSFTCPLGGP
19:58145198-58145198 G>C	0.0	4186	BREAST	-	-	-	-	ZNF211	uc010yhc.1,p.L4F|uc002qpt.2,p.L4F|uc002qpr.2,p.L4F|ENST00000544273,p.L4F	retained_intron, protein_coding, nonsense_mediated_decay	uc010yhc.1	nonsynonymous SNV	exon2	c.G12C	p.L4F	MRTLRQREVEYFSKAT	MRTFRQREVEYFSKAT	4.0	3.0	-	-	4186_19:58145198-58145198 G>C_MRTFRQREVEYFSKAT
7:116409832-116409832 A>C	0.0	4186	BREAST	-	-	-	1	MET	uc022akk.1,p.E906A|ENST00000422097,p.E186A	protein_coding, processed_transcript	uc022akk.1	nonsynonymous SNV	exon12	c.A2717C	p.E906A	CTVPNDLLKLNSELNIEVGFLHSSH	CTVPNDLLKLNSALNIEVGFLHSSH	1.0	5.0	unscreened	-	4186_7:116409832-116409832 A>C_CTVPNDLLKLNSALNIEVGFLHSSH
19:58868317-58868317 A>C	0.0	4186	BREAST	-	-	-	-	ZNF497	ENST00000311044,p.W229G|uc002qsi.2,p.W229G|uc021vcw.1,p.W229G|NM_001207009,p.W229G|ENST00000425453,p.W229G|uc002qsh.2,p.W229G|NM_198458,p.W229G	protein_coding	uc021vcw.1	nonsynonymous SNV	exon1	c.T685G	p.W229G	PYECPECGKAFSWNSNFLEHRRVHT	PYECPECGKAFSGNSNFLEHRRVHT	5.0	2.0	unscreened	-	4186_19:58868317-58868317 A>C_PYECPECGKAFSGNSNFLEHRRVHT
2:172930336-172930336 A>C	0.0	4186	BREAST	-	-	-	-	METAP1D	NM_199227,p.D118A|uc002uhk.3,p.D118A|ENST00000315796,p.D118A	protein_coding, processed_transcript	uc002uhk.3	nonsynonymous SNV	exon4	c.A353C	p.D118A	HVLLLAGKSLKVDMTTEEIDALVHR	HVLLLAGKSLKVAMTTEEIDALVHR	6.0	6.0	-	-	4186_2:172930336-172930336 A>C_HVLLLAGKSLKVAMTTEEIDALVHR
1:240070761-240070761 C>T	0.0	4186	BREAST	-	-	-	-	CHRM3	NM_000740,p.H4Y|uc021plc.1,p.H4Y|ENST00000448020,p.H4Y|uc001hyp.3,p.H4Y|ENST00000255380,p.H4Y	protein_coding, processed_transcript	uc021plc.1	nonsynonymous SNV	exon1	c.C10T	p.H4Y	MTLHNNSTTSPLFPNI	MTLYNNSTTSPLFPNI	1.0	1.0	unscreened	-	4186_1:240070761-240070761 C>T_MTLYNNSTTSPLFPNI
10:125526665-125526665 A>C	0.0	4186	BREAST	-	-	-	-	CPXM2	ENST00000241305,p.S435A|uc001lhk.1,p.S435A|NM_198148,p.S435A	protein_coding, processed_transcript	uc001lhk.1	nonsynonymous SNV	exon10	c.T1303G	p.S435A	NPDGYEKAYEGGSELGGWSLGRWTH	NPDGYEKAYEGGAELGGWSLGRWTH	1.0	7.0	unscreened	-	4186_10:125526665-125526665 A>C_NPDGYEKAYEGGAELGGWSLGRWTH
5:176963371-176963371 G>A	0.0	4186	BREAST	-	-	-	-	FAM193B	ENST00000443375,p.P242L|uc003mhu.3,p.P355L|ENST00000514747,p.P355L|NM_001190946,p.P355L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003mhu.3	nonsynonymous SNV	exon4	c.C1064T	p.P355L	GPLLPPPSSQPLPSTHRDPGCKGHK	GPLLPPPSSQPLLSTHRDPGCKGHK	10.0	7.0	-	-	4186_5:176963371-176963371 G>A_GPLLPPPSSQPLLSTHRDPGCKGHK
1:209935909-209935909 C>T	0.0	4186	BREAST	-	-	-	-	TRAF3IP3	ENST00000367024,p.S132L|uc001hhn.3,p.S112L|uc001hhm.2,p.S132L|uc001hho.3,p.S132L|ENST00000367026,p.S112L|ENST00000367025,p.S132L|NM_025228,p.S132L|ENST00000010338,p.S112L|ENST00000400959,p.S112L|uc009xcr.3,p.S132L|ENST00000478359,p.S132L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009xcr.3	nonsynonymous SNV	exon4	c.C395T	p.S132L	SSEVFPAQHPPPSGICRDLSDHLSS	SSEVFPAQHPPPLGICRDLSDHLSS	4.0	1.0	unscreened	-	4186_1:209935909-209935909 C>T_SSEVFPAQHPPPLGICRDLSDHLSS
16:31478193-31478193 G>T	0.0	4186	BREAST	-	-	-	-	ARMC5	ENST00000563544,p.A931S|ENST00000408912,p.A1026S|ENST00000538189,p.A963S|uc010vfn.2,p.A1026S|NM_001288767,p.A1026S|ENST00000412665,p.A575S|ENST00000268314,p.A931S|NM_001105247,p.A931S|uc010vfp.2,p.A739S|uc010vfo.2,p.A963S|NM_001301820,p.A963S|uc002ecc.3,p.A931S	retained_intron, protein_coding, nonsense_mediated_decay	uc010vfp.2	nonsynonymous SNV	exon7	c.G2215T	p.A739S	ALLAVVMGIELGARVPA	ALLAVVMGIELGSRVPA	8.0	4.0	-	-	4186_16:31478193-31478193 G>T_ALLAVVMGIELGSRVPA
14:37132375-37132375 G>A	0.0	4186	BREAST	-	-	-	-	PAX9	ENST00000361487,p.R93K|uc001wty.4,p.R93K|NM_006194,p.R93K|ENST00000402703,p.R93K	protein_coding, processed_transcript	uc001wty.4	nonsynonymous SNV	exon3	c.G278A	p.R93K	PTVVKHIRTYKQRDPGIFAWEIRDR	PTVVKHIRTYKQKDPGIFAWEIRDR	1.0	2.0	unscreened	-	4186_14:37132375-37132375 G>A_PTVVKHIRTYKQKDPGIFAWEIRDR
3:124485093-124485093 A>C	1.0	4186	BREAST	-	-	-	-	ITGB5	ENST00000296181,p.L706R|NM_002213,p.L706R|uc003eho.3,p.L706R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003eho.3	nonsynonymous SNV	exon13	c.T2117G	p.L706R	FTYVELPSGKSNLTVLREPECGNTP	FTYVELPSGKSNRTVLREPECGNTP	9.0	3.0	-	-	4186_3:124485093-124485093 A>C_FTYVELPSGKSNRTVLREPECGNTP
11:114453490-114453490 A>C	0.0	4186	BREAST	-	-	-	-	NXPE4	uc001ppc.3,p.L117R|NM_001077639,p.L117R|ENST00000375478,p.L117R	protein_coding	uc001ppc.3	nonsynonymous SNV	exon3	c.T350G	p.L117R	LNPRDTYCRGDQLHILLEVRDHLGR	LNPRDTYCRGDQRHILLEVRDHLGR	1.0	7.0	-	-	4186_11:114453490-114453490 A>C_LNPRDTYCRGDQRHILLEVRDHLGR
5:140751708-140751708 G>C	0.0	4186	BREAST	-	-	-	-	PCDHGB3	NM_018924,p.E583Q|uc011dat.2,p.E583Q|ENST00000576222,p.E583Q|uc003ljw.2,p.E583Q|NM_032097,p.E583Q	protein_coding	uc011dat.2	nonsynonymous SNV	exon1	c.G1747C	p.E583Q	GSALFDMVPRSAEPGYLVTKVVAVD	GSALFDMVPRSAQPGYLVTKVVAVD	1.0	8.0	-	-	4186_5:140751708-140751708 G>C_GSALFDMVPRSAQPGYLVTKVVAVD
12:40820366-40820366 C>T	0.0	4186	BREAST	-	-	-	-	MUC19	ENST00000425730,p.S115L	retained_intron, protein_coding, processed_transcript	ENST00000425730	nonsynonymous SNV	exon11	c.C344T	p.S115L	CDTYSELSRLCASDGPGTFESWRSD	CDTYSELSRLCALDGPGTFESWRSD	1.0	5.0	unscreened	-	4186_12:40820366-40820366 C>T_CDTYSELSRLCALDGPGTFESWRSD
12:307082-307082 G>A	0.0	4186	BREAST	-	-	-	-	SLC6A12	NM_001122847,p.H312Y|uc009zdh.2,p.H312Y|NM_001122848,p.H312Y|ENST00000428720,p.H312Y|NM_001206931,p.H312Y|NM_003044,p.H312Y|ENST00000359674,p.H312Y|uc001qib.3,p.H312Y|ENST00000536824,p.H312Y|ENST00000424061,p.H312Y|ENST00000397296,p.H312Y|uc001qhz.3,p.H312Y|uc001qia.3,p.H312Y	retained_intron, protein_coding, processed_transcript	uc009zdh.2	nonsynonymous SNV	exon8	c.C934T	p.H312Y	GCLTALGSYNKYHNNCYKDCIALCF	GCLTALGSYNKYYNNCYKDCIALCF	3.0	10.0	unscreened	-	4186_12:307082-307082 G>A_GCLTALGSYNKYYNNCYKDCIALCF
14:24437989-24437989 C>G	0.0	4186	BREAST	-	-	-	-	DHRS4	NM_001282991,p.A129G|ENST00000308178,p.A111G|NM_001282989,p.A163G|ENST00000558581,p.A215G|uc001wla.3,p.A249G|uc010akz.3,p.A170G|NM_001282990,p.A170G|ENST00000397075,p.A163G|NM_021004,p.A249G|ENST00000397073,p.A152G|uc001wlb.3,p.A215G|NM_001282988,p.A215G|ENST00000559632,p.A170G|ENST00000313250,p.A249G|ENST00000397074,p.A129G|ENST00000421831,p.A197G	protein_coding	uc010akz.3	nonsynonymous SNV	exon6	c.C509G	p.A170G	LRIRRLGEPEDCAGIVSFLCSEDAS	LRIRRLGEPEDCGGIVSFLCSEDAS	9.0	5.0	-	-	4186_14:24437989-24437989 C>G_LRIRRLGEPEDCGGIVSFLCSEDAS
1:47607828-47607828 G>A	0.0	4186	BREAST	-	-	-	-	CYP4A22	ENST00000371890,p.R144Q|ENST00000371891,p.R144Q|uc009vyo.3,p.R144Q|ENST00000294337,p.R144Q|uc009vyp.3,p.R144Q|uc001cqv.1,p.R144Q|NM_001010969,p.R144Q	protein_coding, processed_transcript	uc009vyp.3	nonsynonymous SNV	exon4	c.G431A	p.R144Q	LLLNGQTWFQHRRMLTPAFHNDILK	LLLNGQTWFQHRQMLTPAFHNDILK	1.0	5.0	-	-	4186_1:47607828-47607828 G>A_LLLNGQTWFQHRQMLTPAFHNDILK
17:19641731-19641731 T>A	0.0	4186	BREAST	-	-	-	-	ALDH3A1	ENST00000468746,p.R384S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000468746	nonsynonymous SNV	exon9	c.A1152T	p.R384S	KGTAAWDPTMARRASRLSLTAALAW	KGTAAWDPTMARSASRLSLTAALAW	1.0	9.0	unscreened	-	4186_17:19641731-19641731 T>A_KGTAAWDPTMARSASRLSLTAALAW
11:6129367-6129367 T>C	0.0	4186	BREAST	-	-	-	-	OR56B4	NM_001005181,p.I120T|uc010qzx.2,p.I120T|ENST00000316529,p.I120T	protein_coding	uc010qzx.2	nonsynonymous SNV	exon1	c.T359C	p.I120T	YAIHCFFCIESGIFLCMAVDRYIAI	YAIHCFFCIESGTFLCMAVDRYIAI	1.0	7.0	-	-	4186_11:6129367-6129367 T>C_YAIHCFFCIESGTFLCMAVDRYIAI
12:131781391-131781391 C>T	0.0	4186	BREAST	-	-	-	-	LINC01257,LOC338797	ENST00000598023,p.R151C	protein_coding	ENST00000598023	nonsynonymous SNV	exon1	c.C451T	p.R151C	HCPGGQPGPQLHRAWTVWSWAVPSS	HCPGGQPGPQLHCAWTVWSWAVPSS	1.0	8.0	unscreened	-	4186_12:131781391-131781391 C>T_HCPGGQPGPQLHCAWTVWSWAVPSS
1:207680100-207680100 G>C	0.0	4186	BREAST	-	-	-	-	CR1	uc010psg.1,p.V115L|uc001hfy.3,p.V115L|NM_000651,p.V115L|ENST00000367049,p.V115L|uc021pij.1,p.V115L|ENST00000367052,p.V115L|uc009xcj.1,p.V115L|ENST00000367051,p.V115L|ENST00000400960,p.V115L|NM_000573,p.V115L|uc009xck.1,p.V115L|uc001hfx.3,p.V115L|ENST00000534202,p.V115L|uc009xcl.1,p.V115L|ENST00000367053,p.V115L	retained_intron, protein_coding, processed_transcript	uc021pij.1	nonsynonymous SNV	exon3	c.G343C	p.V115L	SCRNPPDPVNGMVHVIKGIQFGSQI	SCRNPPDPVNGMLHVIKGIQFGSQI	2.0	1.0	unscreened	-	4186_1:207680100-207680100 G>C_SCRNPPDPVNGMLHVIKGIQFGSQI
16:19718381-19718381 C>G	1.0	4186	BREAST	-	-	-	-	KNOP1	NM_001012991,p.D410H|uc002dgq.3,p.D410H|ENST00000568230,p.D89H|ENST00000219837,p.D410H	retained_intron, protein_coding	uc002dgq.3	nonsynonymous SNV	exon5	c.G1228C	p.D410H	ARPNMALGKKAADSLQQNLQRDYDR	ARPNMALGKKAAHSLQQNLQRDYDR	10.0	2.0	-	-	4186_16:19718381-19718381 C>G_ARPNMALGKKAAHSLQQNLQRDYDR
4:128584729-128584729 C>T	0.0	4186	BREAST	-	-	-	-	INTU	ENST00000503626,p.S321L|ENST00000503952,p.S321L|uc003ifk.2,p.S321L|ENST00000335251,p.S321L|NM_015693,p.S321L|ENST00000296461,p.S321L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ifk.2	nonsynonymous SNV	exon4	c.C962T	p.S321L	IMYLTLQLDSETSKEEQEILYHYPM	IMYLTLQLDSETLKEEQEILYHYPM	4.0	7.0	unscreened	-	4186_4:128584729-128584729 C>T_IMYLTLQLDSETLKEEQEILYHYPM
10:71973243-71973243 C>T	1.0	4186	BREAST	-	-	-	-	PPA1	uc001jqv.1,p.D163N|ENST00000373232,p.D163N|NM_021129,p.D163N	protein_coding, processed_transcript	uc001jqv.1	nonsynonymous SNV	exon6	c.G487A	p.D163N	ETDWKVIAINVDDPDAANYNDINDV	ETDWKVIAINVDNPDAANYNDINDV	10.0	2.0	-	-	4186_10:71973243-71973243 C>T_ETDWKVIAINVDNPDAANYNDINDV
5:14419919-14419919 C>G	0.0	4186	BREAST	-	-	-	-	TRIO	ENST00000344204,p.I1664M|ENST00000513206,p.I1397M|uc003jfh.1,p.I1313M|uc003jff.3,p.I1664M|ENST00000537187,p.I1664M|ENST00000512070,p.I1605M|NM_007118,p.I1664M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jfh.1	nonsynonymous SNV	exon29	c.C3939G	p.I1313M	DKLSGGCELTVVIHDFTACNSNELT	DKLSGGCELTVVMHDFTACNSNELT	7.0	7.0	-	-	4186_5:14419919-14419919 C>G_DKLSGGCELTVVMHDFTACNSNELT
19:58385701-58385701 C>T	0.0	4186	BREAST	-	-	-	-	ZNF814	NM_001144989,p.E353K|ENST00000435989,p.E353K|uc002qqo.2,p.E353K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002qqo.2	nonsynonymous SNV	exon3	c.G1057A	p.E353K	NHQRVHTEKKHYECGECGKSFSKYV	NHQRVHTEKKHYKCGECGKSFSKYV	7.0	1.0	unscreened	-	4186_19:58385701-58385701 C>T_NHQRVHTEKKHYKCGECGKSFSKYV
6:105609396-105609396 G>T	0.0	4186	BREAST	-	-	-	-	POPDC3	ENST00000254765,p.A130D|NM_022361,p.A130D|uc003prb.3,p.A130D	protein_coding, processed_transcript	uc003prb.3	nonsynonymous SNV	exon2	c.C389A	p.A130D	PLGISLPVFRTIALSSEVVTLEKEH	PLGISLPVFRTIDLSSEVVTLEKEH	1.0	7.0	unscreened	-	4186_6:105609396-105609396 G>T_PLGISLPVFRTIDLSSEVVTLEKEH
10:45984856-45984856 T>C	1.0	4186	BREAST	-	-	-	-	MARCH8	ENST00000319836,p.T38A|ENST00000453980,p.T38A|ENST00000395769,p.T38A|uc001jck.1,p.T38A|NM_001282866,p.T38A|ENST00000453424,p.T38A|NM_145021,p.T38A|uc001jch.2,p.T38A|uc001jci.1,p.T38A|NM_001002266,p.T38A|uc001jcj.1,p.T38A|ENST00000395771,p.T38A	protein_coding, processed_transcript	uc001jck.1	nonsynonymous SNV	exon3	c.A112G	p.T38A	TKEKEREEQNEKTLGHFMSHSSNIS	TKEKEREEQNEKALGHFMSHSSNIS	8.0	7.0	-	-	4186_10:45984856-45984856 T>C_TKEKEREEQNEKALGHFMSHSSNIS
5:1878622-1878622 C>G	0.0	4186	BREAST	-	-	-	-	IRX4	ENST00000505790,p.E341Q|NM_001278634,p.E341Q|NM_001278632,p.E341Q|ENST00000231357,p.E341Q|uc031siq.1,p.E367Q|uc031sip.1,p.E341Q|ENST00000513692,p.E341Q|uc011cmf.2,p.E202Q|uc031sir.1,p.E341Q|NM_001278635,p.E367Q|uc003jcz.2,p.E341Q|uc031sio.1,p.E367Q|NM_001278633,p.E367Q|NM_016358,p.E341Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc031sir.1	nonsynonymous SNV	exon6	c.G1021C	p.E341Q	SAAAGPEPLPGAEGGPQVCEAKLGF	SAAAGPEPLPGAQGGPQVCEAKLGF	7.0	7.0	unscreened	-	4186_5:1878622-1878622 C>G_SAAAGPEPLPGAQGGPQVCEAKLGF
2:180310306-180310306 G>T	0.0	4186	BREAST	-	-	-	-	ZNF385B	NM_152520,p.H356N|NM_001282725,p.H254N|uc002unm.3,p.H280N|NM_001113397,p.H280N|NM_001113398,p.H254N|ENST00000410066,p.H356N|ENST00000336917,p.H254N|uc002unl.4,p.H253N|uc002unn.4,p.H356N|ENST00000409692,p.H254N|ENST00000409343,p.H280N|uc002unj.3,p.H254N	protein_coding, processed_transcript	uc002unn.4	nonsynonymous SNV	exon8	c.C1066A	p.H356N	QNKTFHCEICDVHVNSEIQLKQHIS	QNKTFHCEICDVNVNSEIQLKQHIS	5.0	10.0	-	-	4186_2:180310306-180310306 G>T_QNKTFHCEICDVNVNSEIQLKQHIS
6:26031973-26031973 C>T	0.0	4186	BREAST	-	-	ID=COSM1545832;OCCURENCE=1(lung)	1	HIST1H3B	NM_003537,p.E106K|uc003nfs.1,p.E106K|ENST00000244661,p.E106K	protein_coding	uc003nfs.1	nonsynonymous SNV	exon1	c.G316A	p.E106K	QEACEAYLVGLFEDTNLCAIHAKRV	QEACEAYLVGLFKDTNLCAIHAKRV	1.0	4.0	-	-	4186_6:26031973-26031973 C>T_QEACEAYLVGLFKDTNLCAIHAKRV
X:2408423-2408423 T>C	0.0	4186	BREAST	-	-	ID=COSM1119429;OCCURENCE=1(endometrium)	-	ZBED1	uc022brw.1,p.K113R|ENST00000461691,p.K113R|ENST00000381218,p.K113R|NM_004729,p.K113R|uc004cqh.2,p.K113R|uc004cqg.2,p.K113R|NM_001171136,p.K113R|uc022brx.1,p.K113R|ENST00000381223,p.K113R|NM_001171135,p.K113R|ENST00000381222,p.K113R	protein_coding	uc022brx.1	nonsynonymous SNV	exon1	c.A338G	p.K113R	SSQQPGQDALAVKAGHGYDSKKQQE	SSQQPGQDALAVRAGHGYDSKKQQE	7.0	9.0	-	-	4186_X:2408423-2408423 T>C_SSQQPGQDALAVRAGHGYDSKKQQE
3:109049566-109049566 C>T	0.0	4186	BREAST	-	-	-	-	DPPA4	ENST00000335658,p.E162K|uc003dxq.4,p.E162K|uc011bhp.1,p.E162K|NM_018189,p.E162K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bhp.1	nonsynonymous SNV	exon5	c.G484A	p.E162K	KVEKGETSLQSSETHPPEVALPPVG	KVEKGETSLQSSKTHPPEVALPPVG	1.0	8.0	unscreened	-	4186_3:109049566-109049566 C>T_KVEKGETSLQSSKTHPPEVALPPVG
19:42848684-42848684 G>A	0.0	4186	BREAST	-	-	-	-	MEGF8	NM_001410,p.G627E|ENST00000334370,p.G627E|uc002otl.4,p.G627E|NM_001271938,p.G627E|uc002otm.5,p.G627E|ENST00000251268,p.G627E	retained_intron, protein_coding	uc002otm.5	nonsynonymous SNV	exon11	c.G1880A	p.G627E	CLAFSSPTAPPRGPGTLGWCVHNES	CLAFSSPTAPPREPGTLGWCVHNES	5.0	9.0	unscreened	-	4186_19:42848684-42848684 G>A_CLAFSSPTAPPREPGTLGWCVHNES
15:79586571-79586571 G>C	0.0	4186	BREAST	-	-	-	-	ANKRD34C	ENST00000421388,p.E315D|ENST00000558647,p.E315D|NM_001146341,p.E315D|uc021srm.1,p.E315D|uc002bet.3,p.E315D	protein_coding	uc021srm.1	nonsynonymous SNV	exon1	c.G945C	p.E315D	DSKDPTLFHTVTEQVLKIPVSSAPA	DSKDPTLFHTVTDQVLKIPVSSAPA	1.0	9.0	-	-	4186_15:79586571-79586571 G>C_DSKDPTLFHTVTDQVLKIPVSSAPA
1:101704569-101704569 A>C	0.0	4186	BREAST	-	-	-	-	S1PR1	uc001dud.2,p.K10T|ENST00000305352,p.K10T|uc009weg.2,p.K10T|NM_001400,p.K10T|uc021oqt.1,p.K10T	protein_coding, processed_transcript	uc021oqt.1	nonsynonymous SNV	exon1	c.A29C	p.K10T	MGPTSVPLVKAHRSSVSDYVNY	MGPTSVPLVTAHRSSVSDYVNY	5.0	9.0	-	-	4186_1:101704569-101704569 A>C_MGPTSVPLVTAHRSSVSDYVNY
4:80952778-80952778 C>G	0.0	4186	BREAST	-	-	-	-	ANTXR2	NM_001286780,p.E212Q|NM_001145794,p.E289Q|NM_058172,p.E289Q|uc003hly.4,p.E289Q|uc003hlz.4,p.E289Q|NM_001286781,p.E212Q|ENST00000404191,p.E212Q|ENST00000403729,p.E289Q|ENST00000307333,p.E289Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc003hlz.4	nonsynonymous SNV	exon10	c.G865C	p.E289Q	MLCPAPILNKAGETLDVSVSFNGGK	MLCPAPILNKAGQTLDVSVSFNGGK	4.0	5.0	unscreened	-	4186_4:80952778-80952778 C>G_MLCPAPILNKAGQTLDVSVSFNGGK
3:122288652-122288652 A>C	0.0	4186	BREAST	-	-	-	-	DTX3L	uc003efk.3,p.K572N|uc021xdb.1,p.K408N|ENST00000296161,p.K572N|NM_138287,p.K572N	protein_coding	uc021xdb.1	nonsynonymous SNV	exon1	c.A1224C	p.K408N	ICVICMDTISNKKVLPKCKHEFCAP	ICVICMDTISNKNVLPKCKHEFCAP	7.0	8.0	-	-	4186_3:122288652-122288652 A>C_ICVICMDTISNKNVLPKCKHEFCAP
1:173883929-173883929 G>A	0.0	4186	BREAST	-	-	-	-	SERPINC1	ENST00000367698,p.S57F|NM_000488,p.S57F|uc001gjt.3,p.S57F	protein_coding, processed_transcript	uc001gjt.3	nonsynonymous SNV	exon2	c.C170T	p.S57F	RDIPMNPMCIYRSPEKKATEDEGSE	RDIPMNPMCIYRFPEKKATEDEGSE	1.0	1.0	unscreened	-	4186_1:173883929-173883929 G>A_RDIPMNPMCIYRFPEKKATEDEGSE
3:152554160-152554160 A>T	0.0	4186	BREAST	-	-	-	-	P2RY1	uc003ezq.3,p.N197Y|ENST00000305097,p.N197Y|NM_002563,p.N197Y	protein_coding	uc003ezq.3	nonsynonymous SNV	exon1	c.A589T	p.N197Y	PILFYSGTGVRKNKTITCYDTTSDE	PILFYSGTGVRKYKTITCYDTTSDE	1.0	7.0	-	-	4186_3:152554160-152554160 A>T_PILFYSGTGVRKYKTITCYDTTSDE
16:24573203-24573203 C>G	1.0	4186	BREAST	-	-	-	-	RBBP6	uc002dmi.3,p.P337R|NM_006910,p.P337R|ENST00000564314,p.P204R|uc010vcb.1,p.P204R|ENST00000381039,p.P337R|uc002dmk.3,p.P204R|uc002dmh.3,p.P337R|ENST00000319715,p.P337R|ENST00000348022,p.P337R|uc010bxr.3,p.P337R|NM_018703,p.P337R	retained_intron, protein_coding	uc010vcb.1	nonsynonymous SNV	exon8	c.C611G	p.P204R	ETGYTKRLRKQLPPPPPPIPPPRPL	ETGYTKRLRKQLRPPPPPIPPPRPL	9.0	1.0	-	-	4186_16:24573203-24573203 C>G_ETGYTKRLRKQLRPPPPPIPPPRPL
2:50699516-50699516 G>A	0.0	4186	BREAST	-	-	-	-	NRXN1	ENST00000406316,p.S1055L|ENST00000404971,p.S1095L|NM_001135659,p.S1095L|uc021vhg.1,p.S1095L|ENST00000402717,p.S1047L|ENST00000401669,p.S1055L|uc021vhh.1,p.S1055L|ENST00000405472,p.S1047L|uc002rxb.4,p.S727L|ENST00000406859,p.S1055L|NM_004801,p.S1055L|ENST00000401710,p.S64L	retained_intron, protein_coding, processed_transcript	uc021vhh.1	nonsynonymous SNV	exon15	c.C3164T	p.S1055L	VHAKEGFQGCLASVDLNGRLPDLIS	VHAKEGFQGCLALVDLNGRLPDLIS	1.0	1.0	unscreened	-	4186_2:50699516-50699516 G>A_VHAKEGFQGCLALVDLNGRLPDLIS
2:74757429-74757429 C>G	0.0	4186	BREAST	-	-	-	-	HTRA2	uc002smj.1,p.S99C|ENST00000258080,p.S99C|NM_013247,p.S99C|uc002smi.1,p.S99C|NM_145074,p.S99C|uc002smk.1,p.S99C|ENST00000437202,p.S86C|uc002sml.1,p.S99C|ENST00000352222,p.S99C	retained_intron, protein_coding, processed_transcript	uc002sml.1	nonsynonymous SNV	exon1	c.C296G	p.S99C	TPDTRTREASENSGTRSRAWLAVAL	TPDTRTREASENCGTRSRAWLAVAL	9.0	8.0	-	-	4186_2:74757429-74757429 C>G_TPDTRTREASENCGTRSRAWLAVAL
1:90180497-90180497 G>A	0.0	4186	BREAST	-	-	-	-	LRRC8C	ENST00000370454,p.E790K|uc001dnl.4,p.E790K|NM_032270,p.E790K	protein_coding, processed_transcript, nonsense_mediated_decay	uc001dnl.4	nonsynonymous SNV	exon3	c.G2368A	p.E790K	KRAGLVVEDALFETLPSDVREQMKT	KRAGLVVEDALFKTLPSDVREQMKT	2.0	9.0	unscreened	-	4186_1:90180497-90180497 G>A_KRAGLVVEDALFKTLPSDVREQMKT
3:160146678-160146678 G>A	0.0	4186	BREAST	-	-	-	-	SMC4	ENST00000469762,p.E890K|uc003fdj.3,p.E915K|ENST00000360111,p.E915K|uc003fdl.3,p.E618K|ENST00000357388,p.E915K|NM_005496,p.E915K|ENST00000462787,p.E915K|NM_001002800,p.E915K|uc003fdi.3,p.E890K|ENST00000344722,p.E915K|uc003fdh.3,p.E915K|uc010hwd.3,p.E915K|NM_001288753,p.E890K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hwd.3	nonsynonymous SNV	exon17	c.G2743A	p.E915K	QDKLDKINKQLDECASAITKAQVAI	QDKLDKINKQLDKCASAITKAQVAI	8.0	8.0	unscreened	-	4186_3:160146678-160146678 G>A_QDKLDKINKQLDKCASAITKAQVAI
12:104340576-104340576 G>A	1.0	4186	BREAST	-	-	-	-	HSP90B1	ENST00000299767,p.D707N|uc010swg.2,p.D372N|NM_003299,p.D707N|uc001tkb.2,p.D707N	retained_intron, protein_coding, nonsense_mediated_decay	uc010swg.2	nonsynonymous SNV	exon12	c.G1114A	p.D372N	RDMLRRIKEDEDDKTVLDLAVVLFE	RDMLRRIKEDEDNKTVLDLAVVLFE	10.0	9.0	-	-	4186_12:104340576-104340576 G>A_RDMLRRIKEDEDNKTVLDLAVVLFE
20:58449059-58449059 G>C	0.0	4186	BREAST	-	-	-	-	SYCP2	ENST00000371001,p.S1136C|NM_014258,p.S1136C|uc002yaz.3,p.S1136C|ENST00000357552,p.S1136C	retained_intron, protein_coding, processed_transcript	uc002yaz.3	nonsynonymous SNV	exon34	c.C3407G	p.S1136C	KDFTQDYDCITKSISPYPKTSSLES	KDFTQDYDCITKCISPYPKTSSLES	5.0	2.0	unscreened	-	4186_20:58449059-58449059 G>C_KDFTQDYDCITKCISPYPKTSSLES
16:3778493-3778493 C>A	0.0	4186	BREAST	-	-	-	1	CREBBP	NM_004380,p.M2185I|uc002cvw.3,p.M2147I|uc002cvv.3,p.M2185I|ENST00000262367,p.M2185I|NM_001079846,p.M2147I|ENST00000382070,p.M2147I	retained_intron, protein_coding	uc002cvw.3	nonsynonymous SNV	exon30	c.G6441T	p.M2147I	IMNPGHNPNMASMNPQYREMLRRQL	IMNPGHNPNMASINPQYREMLRRQL	6.0	1.0	unscreened	-	4186_16:3778493-3778493 C>A_IMNPGHNPNMASINPQYREMLRRQL
4:80952778-80952778 C>G	0.0	4186	BREAST	-	-	-	-	ANTXR2	ENST00000295465,p.E289Q|ENST00000449651,p.E212Q	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000449651	nonsynonymous SNV	exon9	c.G634C	p.E212Q	MLCPAPILNKAGEWGLTVTQAGVKW	MLCPAPILNKAGQWGLTVTQAGVKW	4.0	5.0	unscreened	-	4186_4:80952778-80952778 C>G_MLCPAPILNKAGQWGLTVTQAGVKW
7:50607621-50607621 A>C	0.0	4186	BREAST	-	-	-	-	DDC	uc003tpg.4,p.F103V|NM_001242890,p.F103V|NM_001242889,p.F103V|uc022adf.1,p.F103V|ENST00000357936,p.F103V|ENST00000444124,p.F103V|NM_001242887,p.F103V|NM_000790,p.F103V|NM_001082971,p.F103V|ENST00000431062,p.F103V|ENST00000380984,p.F103V|uc003tpf.4,p.F103V|uc022adc.1,p.F103V|uc022add.1,p.F103V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022adf.1	nonsynonymous SNV	exon3	c.T307G	p.F103V	ADMLCGAIGCIGFSWAASPACTELE	ADMLCGAIGCIGVSWAASPACTELE	1.0	3.0	unscreened	-	4186_7:50607621-50607621 A>C_ADMLCGAIGCIGVSWAASPACTELE
16:67650654-67650654 G>A	0.0	4186	BREAST	-	-	-	1	CTCF	ENST00000264010,p.R320H|NM_006565,p.R320H|uc002etl.3,p.R320H	retained_intron, protein_coding	uc002etl.3	nonsynonymous SNV	exon5	c.G959A	p.R320H	LLRNHLNTHTGTRPHKCPDCDMAFV	LLRNHLNTHTGTHPHKCPDCDMAFV	8.0	10.0	-	-	4186_16:67650654-67650654 G>A_LLRNHLNTHTGTHPHKCPDCDMAFV
11:68665406-68665406 C>G	1.0	4186	BREAST	-	-	-	-	MRPL21	ENST00000541279,p.R74T|uc001ooi.3,p.R74T|uc010rqe.1,p.R74T|ENST00000362034,p.R74T|NM_181514,p.R74T	retained_intron, protein_coding, nonsense_mediated_decay	uc010rqe.1	nonsynonymous SNV	exon3	c.G221C	p.R74T	PEVVLPDPVEETRHHAEVVKKVNEM	PEVVLPDPVEETTHHAEVVKKVNEM	10.0	4.0	-	-	4186_11:68665406-68665406 C>G_PEVVLPDPVEETTHHAEVVKKVNEM
X:118222310-118222310 T>G	0.0	4186	BREAST	-	-	-	-	KIAA1210	uc004era.4,p.Q961H|NM_020721,p.Q961H|ENST00000402510,p.Q961H	protein_coding	uc004era.4	nonsynonymous SNV	exon11	c.A2883C	p.Q961H	HPFQPWVNPKVEQEVSSSPKSMAVE	HPFQPWVNPKVEHEVSSSPKSMAVE	1.0	10.0	-	-	4186_X:118222310-118222310 T>G_HPFQPWVNPKVEHEVSSSPKSMAVE
6:31079739-31079739 C>T	0.0	4186	BREAST	-	-	-	-	C6orf15	uc003nsk.1,p.E133K|NM_014070,p.E133K|ENST00000259870,p.E133K	protein_coding	uc003nsk.1	nonsynonymous SNV	exon2	c.G397A	p.E133K	AAAEDRLGEALPEELSYLSSAAALA	AAAEDRLGEALPKELSYLSSAAALA	1.0	4.0	unscreened	-	4186_6:31079739-31079739 C>T_AAAEDRLGEALPKELSYLSSAAALA
15:51758472-51758472 C>G	0.0	4186	BREAST	-	-	-	-	DMXL2	uc002abf.3,p.D2476H|ENST00000543779,p.D2477H|ENST00000449909,p.D1840H|uc010ufy.2,p.D2477H|ENST00000251076,p.D2476H|uc010bfa.3,p.D1840H|NM_001174116,p.D2477H|NM_015263,p.D2476H|NM_001174117,p.D1840H|uc002abd.3,p.D547H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ufy.2	nonsynonymous SNV	exon30	c.G7429C	p.D2477H	PFLPLSDSGVIYDSDESIHSDEEDD	PFLPLSDSGVIYHSDESIHSDEEDD	4.0	10.0	unscreened	-	4186_15:51758472-51758472 C>G_PFLPLSDSGVIYHSDESIHSDEEDD
8:6302891-6302891 G>A	0.0	4186	BREAST	-	-	-	-	MCPH1	NM_001172574,p.E550K|ENST00000519480,p.E550K|NM_001172575,p.E502K|ENST00000344683,p.E550K|uc003wqh.3,p.E550K|uc011kwl.2,p.E502K|ENST00000522905,p.E502K|NM_024596,p.E550K|uc003wqi.3,p.E550K	protein_coding, processed_transcript	uc011kwl.2	nonsynonymous SNV	exon7	c.G1504A	p.E502K	HDDDLTPLEGSLEEMKEAVGLKSTQ	HDDDLTPLEGSLKEMKEAVGLKSTQ	6.0	9.0	unscreened	-	4186_8:6302891-6302891 G>A_HDDDLTPLEGSLKEMKEAVGLKSTQ
3:178936082-178936082 G>A	0.0	4186	BREAST	-	-	ID=COSM760,COSM125369;OCCURENCE=5(gastrointestinal_tract_(site_indeterminate)),2(haematopoietic_and_lymphoid_tissue),7(cervix),18(lung),4(penis),15(thyroid),9(oesophagus),27(upper_aerodigestive_tract),8(central_nervous_system),16(stomach),1(biliary_tract),236(large_intestine),1(prostate),1(pancreas),3(kidney),9(liver),55(urinary_tract),1(small_intestine),21(skin),230(breast),54(endometrium),3(salivary_gland),21(ovary),2(soft_tissue),1(pituitary)	1	PIK3CA	ENST00000263967,p.E542K|NM_006218,p.E542K|uc003fjk.3,p.E542K	retained_intron, protein_coding	uc003fjk.3	nonsynonymous SNV	exon10	c.G1624A	p.E542K	QLKAISTRDPLSEITEQEKDFLWSH	QLKAISTRDPLSKITEQEKDFLWSH	1.0	10.0	-	-	4186_3:178936082-178936082 G>A_QLKAISTRDPLSKITEQEKDFLWSH
9:71836098-71836098 G>A	0.0	4186	BREAST	-	-	-	-	TJP2	uc011lrv.2,p.R244Q|NM_001170414,p.R190Q|uc004ahe.3,p.R213Q|uc011lru.2,p.R217Q|NM_201629,p.R213Q|NM_001170630,p.R213Q|ENST00000348208,p.R213Q|ENST00000539225,p.R244Q|ENST00000535702,p.R217Q|uc011lrt.1,p.R190Q|NM_001170415,p.R217Q|uc004ahd.3,p.R213Q|ENST00000453658,p.R190Q|uc011lrs.2,p.R190Q|uc004ahf.3,p.R213Q|ENST00000377245,p.R213Q|ENST00000265384,p.R213Q|NM_001170416,p.R244Q|NM_004817,p.R213Q|uc004ahb.1,p.R190Q	protein_coding, processed_transcript	uc011lrv.2	nonsynonymous SNV	exon5	c.G731A	p.R244Q	LERGLDQDHARTRDRSRGRSLERGL	LERGLDQDHARTQDRSRGRSLERGL	7.0	10.0	unscreened	-	4186_9:71836098-71836098 G>A_LERGLDQDHARTQDRSRGRSLERGL
X:47436030-47436030 C>T	0.0	4186	BREAST	-	-	-	-	SYN1	NM_133499,p.D283N|ENST00000340666,p.D283N|ENST00000295987,p.D283N|NM_006950,p.D283N|uc004did.3,p.D283N|uc004die.3,p.D283N	protein_coding	uc004die.3	nonsynonymous SNV	exon7	c.G847A	p.D283N	GHAHSGMGKVKVDNQHDFQDIASVV	GHAHSGMGKVKVNNQHDFQDIASVV	1.0	10.0	-	-	4186_X:47436030-47436030 C>T_GHAHSGMGKVKVNNQHDFQDIASVV
1:156838380-156838380 C>T	0.0	4186	BREAST	0.0009	-	-	1	NTRK1	NM_001012331,p.R220W|uc001fqf.1,p.R190W|NM_001007792,p.R190W|ENST00000497019,p.R190W|ENST00000524377,p.R220W|uc001fqh.1,p.R220W|uc009wsk.1,p.R220W|uc001fqi.1,p.R220W|ENST00000358660,p.R220W|NM_002529,p.R220W|ENST00000368196,p.R220W|ENST00000392302,p.R190W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009wsk.1	nonsynonymous SNV	exon6	c.C658T	p.R220W	GDDVLLRCQVEGRGLEQAGWILTEL	GDDVLLRCQVEGWGLEQAGWILTEL	1.0	7.0	unscreened	-	4186_1:156838380-156838380 C>T_GDDVLLRCQVEGWGLEQAGWILTEL
3:98311985-98311985 C>T	0.0	4186	BREAST	-	-	-	-	CPOX	uc003dsx.3,p.E122K|ENST00000513674,p.E122K|ENST00000264193,p.E122K|uc011bgz.2,p.E122K|NM_000097,p.E122K	retained_intron, protein_coding, nonsense_mediated_decay	uc011bgz.2	nonsynonymous SNV	exon1	c.G364A	p.E122K	ATSLGRPEEEEDELAHRCSSFMAPP	ATSLGRPEEEEDKLAHRCSSFMAPP	7.0	5.0	unscreened	-	4186_3:98311985-98311985 C>T_ATSLGRPEEEEDKLAHRCSSFMAPP
11:1955817-1955819 GAA>-	0.0	4186	BREAST	-	-	-	-	TNNT3	ENST00000381561,p.177_178del|ENST00000381589,p.172_173del|ENST00000381548,p.176_177del|ENST00000381549,p.166_167del|uc001luo.4,p.166_167del|NM_001042781,p.172_173del|NM_001297646,p.166_167del|uc001luw.4,p.166_167del|ENST00000397301,p.185_186del|ENST00000446240,p.155_156del|uc010qxf.2,p.172_173del|ENST00000453458,p.155_156del|ENST00000344578,p.161_162del|NM_001042782,p.166_167del|ENST00000381579,p.166_167del|NM_001042780,p.166_167del|uc001luu.4,p.174_175del|NM_006757,p.174_175del|uc010qxg.2,p.106_107del|ENST00000397304,p.155_156del|uc001lur.3,p.166_167del|ENST00000381558,p.166_167del|ENST00000381563,p.177_178del|uc001lun.2,p.70_71del|uc001luq.4,p.166_167del|ENST00000278317,p.174_175del|ENST00000360603,p.168_169del|uc001lup.4,p.172_173del|ENST00000381557,p.160_161del	protein_coding, processed_transcript	uc010qxg.2	nonframeshift deletion	exon8	c.318_320del	p.106_107del	DQKRGKKQTAREMKKKILAERRKPL	DQKRGKKQTAREMKKILAERRKPLN	4.0	10.0	-	-	4186_11:1955817-1955819 GAA>-_DQKRGKKQTAREMKKILAERRKPLN
19:12298020-12298020 G>C	0.0	4186	BREAST	-	-	-	-	ZNF136	NM_003437,p.G276A|ENST00000343979,p.G276A|uc010xmh.2,p.G210A|uc002mti.3,p.G276A|ENST00000398616,p.G210A	retained_intron, protein_coding	uc010xmh.2	nonsynonymous SNV	exon3	c.G629C	p.G210A	LSSFQVHERIHTGEKPFKCKQCGKA	LSSFQVHERIHTAEKPFKCKQCGKA	5.0	4.0	unscreened	-	4186_19:12298020-12298020 G>C_LSSFQVHERIHTAEKPFKCKQCGKA
1:87045220-87045220 A>T	0.0	4186	BREAST	-	-	-	-	CLCA4	ENST00000370563,p.K769M|uc009wct.3,p.K532M|uc009wcs.3,p.K769M|uc009wcu.3,p.K589M|NM_012128,p.K769M	protein_coding, processed_transcript	uc009wcu.3	nonsynonymous SNV	exon11	c.A1766T	p.K589M	QITDLDATVHEDKIILTWTAPGDNF	QITDLDATVHEDMIILTWTAPGDNF	1.0	8.0	unscreened	-	4186_1:87045220-87045220 A>T_QITDLDATVHEDMIILTWTAPGDNF
17:74732409-74732409 C>T	1.0	4186	BREAST	-	-	ID=COSM3796131,COSM3796130;OCCURENCE=1(urinary_tract)	1	SRSF2	NM_001195427,p.R167Q|ENST00000452355,p.R167Q|ENST00000359995,p.R167Q|ENST00000585202,p.R167Q|ENST00000508921,p.R155Q|uc002jsy.4,p.R167Q|uc002jsv.3,p.R167Q|ENST00000392485,p.R167Q|uc010wtg.2,p.R155Q|NM_003016,p.R167Q	retained_intron, protein_coding, nonsense_mediated_decay	uc010wtg.2	nonsynonymous SNV	exon2	c.G464A	p.R155Q	SRSRSTSKSRSARRSKSKSSSVSRS	SRSRSTSKSRSAQRSKSKSSSVSRS	10.0	10.0	-	-	4186_17:74732409-74732409 C>T_SRSRSTSKSRSAQRSKSKSSSVSRS
1:186056584-186056584 G>A	0.0	4186	BREAST	-	-	-	-	HMCN1	NM_031935,p.S3057N|uc001grq.1,p.S3057N|ENST00000367492,p.S3057N|ENST00000271588,p.S3057N	protein_coding, processed_transcript	uc001grq.1	nonsynonymous SNV	exon60	c.G9170A	p.S3057N	KKKFSLTVYVPPSIKDHDSESLSVV	KKKFSLTVYVPPNIKDHDSESLSVV	2.0	1.0	unscreened	-	4186_1:186056584-186056584 G>A_KKKFSLTVYVPPNIKDHDSESLSVV
6:152265335-152265335 G>C	0.0	4186	BREAST	-	-	-	1	ESR1	NM_001122740,p.R263T|uc003qom.4,p.R263T|NM_001122742,p.R263T|uc010kio.3,p.R265T|uc011eex.2,p.R44T|uc003qoo.4,p.R263T|ENST00000440973,p.R263T|uc010kin.3,p.R263T|ENST00000338799,p.R263T|ENST00000544394,p.R90T|ENST00000206249,p.R263T|uc003qon.4,p.R263T|NM_001122741,p.R263T|NM_000125,p.R263T|ENST00000443427,p.R263T|NM_001291230,p.R265T	protein_coding, processed_transcript	uc011eex.2	nonsynonymous SNV	exon2	c.G131C	p.R44T	MKGGIRKDRRGGRMLKHKRQRDDGE	MKGGIRKDRRGGTMLKHKRQRDDGE	3.0	9.0	-	-	4186_6:152265335-152265335 G>C_MKGGIRKDRRGGTMLKHKRQRDDGE
6:152265335-152265335 G>C	0.0	4186	BREAST	-	-	-	1	ESR1	NM_001291241,p.R262T|uc010kip.3,p.R262T	protein_coding, processed_transcript	uc010kip.3	nonsynonymous SNV	exon5	c.G785C	p.R262T	MMKGIRKDRRGGRMLKHKRQRDDGE	MMKGIRKDRRGGTMLKHKRQRDDGE	3.0	9.0	-	-	4186_6:152265335-152265335 G>C_MMKGIRKDRRGGTMLKHKRQRDDGE
16:8862810-8862810 G>C	0.0	4186	BREAST	-	-	-	-	ABAT	NM_000663,p.E266Q|ENST00000569156,p.E266Q|ENST00000268251,p.E266Q|ENST00000396600,p.E266Q|uc002czd.4,p.E266Q|ENST00000425191,p.E266Q|NM_020686,p.E266Q|uc002czc.4,p.E266Q|uc010buh.3,p.E208Q|uc010bui.3,p.E266Q|ENST00000567812,p.E281Q|NM_001127448,p.E266Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bui.3	nonsynonymous SNV	exon11	c.G796C	p.E266Q	PLEEFVKENQQEEARCLEEVEDLIV	PLEEFVKENQQEQARCLEEVEDLIV	8.0	2.0	unscreened	-	4186_16:8862810-8862810 G>C_PLEEFVKENQQEQARCLEEVEDLIV
1:183944331-183944331 A>C	0.0	4186	BREAST	-	-	-	-	COLGALT2	ENST00000361927,p.I131S|ENST00000546159,p.I131S|NM_015101,p.I131S|uc001gqr.3,p.I131S|uc010poj.1,p.I131S	protein_coding, ambiguous_orf	uc010poj.1	nonsynonymous SNV	exon3	c.T392G	p.I131S	RPMDEPESYPDEIGPKHWPTSRFAH	RPMDEPESYPDESGPKHWPTSRFAH	1.0	1.0	unscreened	-	4186_1:183944331-183944331 A>C_RPMDEPESYPDESGPKHWPTSRFAH
19:53668520-53668520 A>C	0.0	4186	BREAST	-	-	-	-	ZNF665	ENST00000396424,p.V408G|ENST00000600412,p.V343G|uc010eqm.1,p.V408G|NM_024733,p.V408G	protein_coding, processed_transcript	uc010eqm.1	nonsynonymous SNV	exon4	c.T1223G	p.V408G	HTGEKPFKCNECVKVFTQYSHLANH	HTGEKPFKCNECGKVFTQYSHLANH	6.0	4.0	-	-	4186_19:53668520-53668520 A>C_HTGEKPFKCNECGKVFTQYSHLANH
17:44249179-44249179 G>C	0.0	4186	BREAST	-	-	-	-	KANSL1	ENST00000574590,p.H111D|ENST00000574655,p.H111D|ENST00000262419,p.H111D|ENST00000572904,p.H111D|uc002ikc.3,p.H111D|ENST00000432791,p.H111D|uc010dav.3,p.H111D|ENST00000575318,p.H111D|NM_001193466,p.H111D|NM_015443,p.H111D|uc002ikd.3,p.H111D|NM_001193465,p.H111D	retained_intron, protein_coding, processed_transcript	uc010dav.3	nonsynonymous SNV	exon3	c.C331G	p.H111D	QGVFSKQTVLKSHPLLSQSYELRAE	QGVFSKQTVLKSDPLLSQSYELRAE	6.0	3.0	unscreened	-	4186_17:44249179-44249179 G>C_QGVFSKQTVLKSDPLLSQSYELRAE
7:138601857-138601857 T>G	0.0	4186	BREAST	-	-	-	2	KIAA1549	ENST00000422774,p.I839L|uc011kql.2,p.I839L|NM_001164665,p.I839L|NM_020910,p.I839L|ENST00000440172,p.I839L|ENST00000242365,p.I789L|uc011kqj.2,p.I839L	protein_coding	uc011kql.2	nonsynonymous SNV	exon2	c.A2515C	p.I839L	SFSKAIPTGTVLITDAYLPSGSSFV	SFSKAIPTGTVLLTDAYLPSGSSFV	3.0	6.0	-	-	4186_7:138601857-138601857 T>G_SFSKAIPTGTVLLTDAYLPSGSSFV
9:106889711-106889711 G>C	1.0	4186	BREAST	-	-	-	-	SMC2	uc011lvl.2,p.D914H|ENST00000374793,p.D914H|ENST00000374787,p.D914H|uc004bbw.3,p.D914H|uc004bbv.3,p.D914H|uc004bbx.3,p.D914H|NM_001265602,p.D914H|NM_006444,p.D914H|ENST00000303219,p.D914H|ENST00000286398,p.D914H|NM_001042551,p.D914H|NM_001042550,p.D914H	protein_coding, nonsense_mediated_decay	uc011lvl.2	nonsynonymous SNV	exon20	c.G2740C	p.D914H	QNNDSQLKIKELDHNISKHKREAED	QNNDSQLKIKELHHNISKHKREAED	6.0	5.0	-	-	4186_9:106889711-106889711 G>C_QNNDSQLKIKELHHNISKHKREAED
4:56502352-56502352 C>G	0.0	4186	BREAST	-	-	-	-	NMU	NM_001292046,p.R3P|ENST00000511469,p.R3P|ENST00000505262,p.R3P|NM_006681,p.R3P|NM_001292045,p.R3P|ENST00000507338,p.R3P|uc003hbc.3,p.R3P|ENST00000264218,p.R3P	protein_coding, processed_transcript	uc003hbc.3	nonsynonymous SNV	exon1	c.G8C	p.R3P	MLRTESCRPRSPAGQ	MLPTESCRPRSPAGQ	4.0	10.0	unscreened	-	4186_4:56502352-56502352 C>G_MLPTESCRPRSPAGQ
2:137814206-137814206 A>T	0.0	4186	BREAST	-	-	-	-	THSD7B	uc002tva.1,p.Y88F|ENST00000413152,p.Y88F|ENST00000272643,p.Y119F|ENST00000409968,p.Y119F	retained_intron, protein_coding, processed_transcript	uc002tva.1	nonsynonymous SNV	exon2	c.A263T	p.Y88F	EVSDWHHCVLVPYARGEVKPRTAEC	EVSDWHHCVLVPFARGEVKPRTAEC	2.0	5.0	-	-	4186_2:137814206-137814206 A>T_EVSDWHHCVLVPFARGEVKPRTAEC
5:148207421-148207421 C>T	0.0	4186	BREAST	-	-	ID=COSM1064086;OCCURENCE=1(endometrium),1(large_intestine),1(pancreas)	-	ADRB2	ENST00000305988,p.R343C|NM_000024,p.R343C|uc003lpr.2,p.R343C	protein_coding	uc003lpr.2	nonsynonymous SNV	exon1	c.C1027T	p.R343C	DFRIAFQELLCLRRSSLKAYGNGYS	DFRIAFQELLCLCRSSLKAYGNGYS	1.0	6.0	unscreened	-	4186_5:148207421-148207421 C>T_DFRIAFQELLCLCRSSLKAYGNGYS
19:36508828-36508828 C>T	0.0	4186	BREAST	-	-	-	-	CLIP3	uc010eeq.2,p.E417K|ENST00000360535,p.E417K|NM_015526,p.E417K|ENST00000593074,p.E417K|NM_001199570,p.E417K|uc002ocz.2,p.E417K	retained_intron, protein_coding	uc010eeq.2	nonsynonymous SNV	exon9	c.G1249A	p.E417K	LGSLQQRDGAKAEVGDQVLVAGQKQ	LGSLQQRDGAKAKVGDQVLVAGQKQ	5.0	2.0	unscreened	-	4186_19:36508828-36508828 C>T_LGSLQQRDGAKAKVGDQVLVAGQKQ
19:43585265-43585265 G>C	0.0	4186	BREAST	-	-	-	-	PSG2	NM_031246,p.I66M|ENST00000406487,p.I66M|uc002ovr.3,p.I66M	protein_coding, processed_transcript	uc002ovr.3	nonsynonymous SNV	exon2	c.C198G	p.I66M	LVHNLPQNLTGYIWYKGQIRDLYHY	LVHNLPQNLTGYMWYKGQIRDLYHY	1.0	4.0	-	-	4186_19:43585265-43585265 G>C_LVHNLPQNLTGYMWYKGQIRDLYHY
1:244217707-244217707 G>A	0.0	4186	BREAST	-	-	-	-	ZBTB18	uc001iad.5,p.E211K|NM_006352,p.E202K|NM_001278196,p.E202K|NM_205768,p.E211K|uc031psv.1,p.E202K|uc001iaf.1,p.E202K|ENST00000358704,p.E211K|uc001iae.4,p.E202K	protein_coding	uc031psv.1	nonsynonymous SNV	exon2	c.G604A	p.E202K	DSAGIPQAGGEAEPHATAAGKTVAS	DSAGIPQAGGEAKPHATAAGKTVAS	2.0	1.0	unscreened	-	4186_1:244217707-244217707 G>A_DSAGIPQAGGEAKPHATAAGKTVAS
19:51171912-51171912 G>C	0.0	4186	BREAST	-	-	-	-	SHANK1	NM_016148,p.S1102W|ENST00000391814,p.S1110W|uc002psx.1,p.S1102W|ENST00000293441,p.S1102W|uc002psw.1,p.S486W|ENST00000391813,p.S489W|ENST00000359082,p.S1093W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002psx.1	nonsynonymous SNV	exon22	c.C3305G	p.S1102W	RAASAAMYVPARSGRGRKGPLVKQT	RAASAAMYVPARWGRGRKGPLVKQT	1.0	3.0	unscreened	-	4186_19:51171912-51171912 G>C_RAASAAMYVPARWGRGRKGPLVKQT
7:28763917-28763917 C>A	0.0	4186	BREAST	-	-	-	-	CREB5	NM_182899,p.Q191K|uc003szr.3,p.Q217K|ENST00000426500,p.Q50K|ENST00000396298,p.Q85K|uc003szs.3,p.Q85K|ENST00000396299,p.Q191K|ENST00000357727,p.Q224K|ENST00000396300,p.Q217K|NM_001011666,p.Q85K|NM_182898,p.Q224K|uc003szo.3,p.Q191K|uc003szq.3,p.Q224K|ENST00000409603,p.Q191K|NM_004904,p.Q217K	retained_intron, protein_coding, processed_transcript	uc003szs.3	nonsynonymous SNV	exon3	c.C253A	p.Q85K	QGPNLSNPCASPQVQPMHSEAKMRL	QGPNLSNPCASPKVQPMHSEAKMRL	1.0	4.0	unscreened	-	4186_7:28763917-28763917 C>A_QGPNLSNPCASPKVQPMHSEAKMRL
7:28763917-28763917 C>A	0.0	4186	BREAST	-	-	-	-	CREB5	uc011jzr.2,p.Q73K	retained_intron, protein_coding, processed_transcript	uc011jzr.2	nonsynonymous SNV	exon3	c.C217A	p.Q73K	QGPNLSNPCASPQVQPMHSEAKMVS	QGPNLSNPCASPKVQPMHSEAKMVS	1.0	4.0	unscreened	-	4186_7:28763917-28763917 C>A_QGPNLSNPCASPKVQPMHSEAKMVS
5:56179364-56179365 CT>-	0.0	4186	BREAST	-	-	-	1	MAP3K1	ENST00000399503,p.T1226fs|uc003jqw.4,p.T1226fs|NM_005921,p.T1226fs	retained_intron, protein_coding	uc003jqw.4	frameshift deletion	exon15	c.3677_3678del	p.T1226fs	EDIIIIQQDTPETLPGHTKAKQPYR	EDIIIIQQDTPETTRTYQSKTTV	4.0	6.0	unscreened	-	4186_5:56179364-56179365 CT>-_EDIIIIQQDTPETTRTYQSKTTV
10:50822357-50822357 G>T	0.0	4186	BREAST	-	-	-	-	CHAT	ENST00000337653,p.G41V|uc001jhz.2,p.G41V|ENST00000466590,p.G41V|NM_020549,p.G41V	protein_coding, processed_transcript	uc001jhz.2	nonsynonymous SNV	exon1	c.G122T	p.G41V	REVRPACFLQSGGRGDPGDVGGPAG	REVRPACFLQSGVRGDPGDVGGPAG	1.0	9.0	unscreened	-	4186_10:50822357-50822357 G>T_REVRPACFLQSGVRGDPGDVGGPAG
10:96313946-96313946 G>C	0.0	4186	BREAST	-	-	-	-	HELLS	NM_001289067,p.E73Q|ENST00000239026,p.E73Q|ENST00000394045,p.E73Q|NM_001289068,p.E57Q|ENST00000419900,p.E57Q|NM_018063,p.E73Q|NM_001289070,p.E73Q|ENST00000394044,p.E73Q|NM_001289072,p.E73Q|uc009xuo.3,p.E73Q|uc001kjt.3,p.E73Q|ENST00000394036,p.E73Q|uc009xul.3,p.E73Q|ENST00000348459,p.E73Q|ENST00000371332,p.E73Q|uc001kjs.3,p.E57Q|uc009xum.3,p.E73Q|NM_001289069,p.E73Q	retained_intron, protein_coding, processed_transcript	uc009xuo.3	nonsynonymous SNV	exon3	c.G217C	p.E73Q	TEIRYRRLQHLLEKSNIYSKFLLTK	TEIRYRRLQHLLQKSNIYSKFLLTK	5.0	6.0	unscreened	-	4186_10:96313946-96313946 G>C_TEIRYRRLQHLLQKSNIYSKFLLTK
13:28622567-28622567 T>C	0.0	4186	BREAST	-	-	-	1	FLT3	uc010tdn.2,p.I350M|uc001urw.3,p.I350M|ENST00000380982,p.I350M|ENST00000241453,p.I350M|ENST00000537084,p.I350M|NM_004119,p.I350M|ENST00000380987,p.I350M	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tdn.2	nonsynonymous SNV	exon9	c.A1050G	p.I350M	QSALVTIVEKGFINATNSSEDYEID	QSALVTIVEKGFMNATNSSEDYEID	1.0	9.0	unscreened	-	4186_13:28622567-28622567 T>C_QSALVTIVEKGFMNATNSSEDYEID
4:135121337-135121337 C>G	0.0	4186	BREAST	-	-	-	-	PABPC4L	NM_001114734,p.E338Q|uc010ioe.3,p.E338Q|ENST00000529122,p.E338Q|ENST00000421491,p.E280Q	protein_coding	uc010ioe.3	nonsynonymous SNV	exon2	c.G1012C	p.E338Q	KVERQAELKQMFEQLKRERIRGCQG	KVERQAELKQMFQQLKRERIRGCQG	3.0	1.0	unscreened	-	4186_4:135121337-135121337 C>G_KVERQAELKQMFQQLKRERIRGCQG
2:189923177-189923177 C>T	0.0	4186	BREAST	-	-	-	-	COL5A2	NM_000393,p.G736E|uc002uqk.3,p.G736E|uc010frx.3,p.G312E|ENST00000374866,p.G736E	retained_intron, protein_coding	uc010frx.3	nonsynonymous SNV	exon17	c.G935A	p.G312E	ITGLPGEKGMAGGHGPDGPKGSPGP	ITGLPGEKGMAGEHGPDGPKGSPGP	7.0	1.0	unscreened	-	4186_2:189923177-189923177 C>T_ITGLPGEKGMAGEHGPDGPKGSPGP
2:29295297-29295297 C>G	0.0	4186	BREAST	-	-	-	-	C2orf71	uc002rmt.2,p.E611Q|NM_001029883,p.E611Q|ENST00000331664,p.E611Q	protein_coding	uc002rmt.2	nonsynonymous SNV	exon1	c.G1831C	p.E611Q	CLQSHVEDPTFQELRRVQRDLSQKL	CLQSHVEDPTFQQLRRVQRDLSQKL	1.0	9.0	-	-	4186_2:29295297-29295297 C>G_CLQSHVEDPTFQQLRRVQRDLSQKL
1:215956187-215956187 C>G	0.0	4186	BREAST	-	-	-	-	USH2A	NM_206933,p.R3493T|uc001hku.1,p.R3493T|ENST00000307340,p.R3493T|ENST00000366943,p.R3493T	retained_intron, protein_coding	uc001hku.1	nonsynonymous SNV	exon53	c.G10478C	p.R3493T	SYGRGLSKAVRARTKEDVPQGVSPP	SYGRGLSKAVRATTKEDVPQGVSPP	1.0	2.0	unscreened	-	4186_1:215956187-215956187 C>G_SYGRGLSKAVRATTKEDVPQGVSPP
20:51871548-51871548 G>C	0.0	4186	BREAST	-	-	-	-	TSHZ2	NM_001193421,p.L514F|ENST00000371497,p.L517F|NM_173485,p.L517F|uc021wex.1,p.L514F|uc002xwo.3,p.L517F|ENST00000329613,p.L514F|ENST00000603338,p.L514F	protein_coding, processed_transcript	uc021wex.1	nonsynonymous SNV	exon2	c.G1542C	p.L514F	DLEDGSKGGGDILKSLENTVTTAIN	DLEDGSKGGGDIFKSLENTVTTAIN	1.0	9.0	-	-	4186_20:51871548-51871548 G>C_DLEDGSKGGGDIFKSLENTVTTAIN
19:14094051-14094051 T>G	0.0	4186	BREAST	-	-	-	-	RFX1	NM_002918,p.K154T|uc002mxv.3,p.K154T|ENST00000254325,p.K154T|uc010dzi.2,p.K154T	retained_intron, protein_coding, processed_transcript	uc010dzi.2	nonsynonymous SNV	exon4	c.A461C	p.K154T	QQRLLVQTSVQAKPGHVSPLQLTNI	QQRLLVQTSVQATPGHVSPLQLTNI	5.0	3.0	unscreened	-	4186_19:14094051-14094051 T>G_QQRLLVQTSVQATPGHVSPLQLTNI
1:248309143-248309143 G>A	0.0	4186	BREAST	-	-	-	-	OR2M5	ENST00000366476,p.E232K|NM_001004690,p.E232K|uc010pze.2,p.E232K	protein_coding	uc010pze.2	nonsynonymous SNV	exon1	c.G694A	p.E232K	RVILAVIHMGSGEGRRKAFTTCSSH	RVILAVIHMGSGKGRRKAFTTCSSH	1.0	1.0	unscreened	-	4186_1:248309143-248309143 G>A_RVILAVIHMGSGKGRRKAFTTCSSH
19:57089898-57089898 G>A	0.0	4186	BREAST	0.0005	-	-	-	ZNF470	ENST00000391709,p.G701R|NM_001001668,p.G701R|uc002qnl.4,p.G701R|ENST00000330619,p.G701R	protein_coding, processed_transcript	uc002qnl.4	nonsynonymous SNV	exon6	c.G2101A	p.G701R	SVHLAHHQRIHTGESSVILSSALPY	SVHLAHHQRIHTRESSVILSSALPY	3.0	5.0	-	-	4186_19:57089898-57089898 G>A_SVHLAHHQRIHTRESSVILSSALPY
8:14181694-14181694 C>T	0.0	4186	BREAST	-	-	-	-	SGCZ	uc003wwq.3,p.R85K|ENST00000382080,p.R85K|NM_139167,p.R85K	protein_coding	uc003wwq.3	nonsynonymous SNV	exon3	c.G254A	p.R85K	VMNFTVDGMGNLRVTKKGIRLEGIS	VMNFTVDGMGNLKVTKKGIRLEGIS	1.0	9.0	-	-	4186_8:14181694-14181694 C>T_VMNFTVDGMGNLKVTKKGIRLEGIS
13:37441485-37441485 C>A	0.0	4186	BREAST	-	-	-	-	SMAD9	uc001uvw.3,p.A236S|ENST00000399275,p.A236S|ENST00000379826,p.A236S|NM_001127217,p.A236S	protein_coding, processed_transcript	uc001uvw.3	nonsynonymous SNV	exon4	c.G706T	p.A236S	VDTPPLPYHATEASETQSGQPVDAT	VDTPPLPYHATESSETQSGQPVDAT	1.0	9.0	-	-	4186_13:37441485-37441485 C>A_VDTPPLPYHATESSETQSGQPVDAT
16:18859266-18859266 G>A	0.0	4186	BREAST	-	-	-	-	SMG1	ENST00000389467,p.P1905S|uc021ted.1,p.P203S|uc002dfm.3,p.P1905S|uc010bwa.3,p.P636S|uc010bwb.3,p.P1765S|ENST00000446231,p.P1905S|ENST00000565324,p.P1795S|NM_015092,p.P1905S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ted.1	nonsynonymous SNV	exon4	c.C607T	p.P203S	ELLVSECEGGSPPASQDSNKDEPKS	ELLVSECEGGSPSASQDSNKDEPKS	5.0	1.0	unscreened	-	4186_16:18859266-18859266 G>A_ELLVSECEGGSPSASQDSNKDEPKS
8:20110880-20110880 T>A	0.0	4186	BREAST	-	-	-	-	LZTS1	ENST00000265801,p.S188C|uc010ltg.2,p.S188C|ENST00000522290,p.S188C|NM_021020,p.S188C|uc003wzr.3,p.S188C|ENST00000381569,p.S188C	protein_coding	uc010ltg.2	nonsynonymous SNV	exon2	c.A562T	p.S188C	RNSMSSLPTHSTSSSYQLDPLVTPV	RNSMSSLPTHSTCSSYQLDPLVTPV	3.0	8.0	unscreened	-	4186_8:20110880-20110880 T>A_RNSMSSLPTHSTCSSYQLDPLVTPV
3:133475840-133475840 T>G	0.0	4186	BREAST	-	-	-	-	TF	ENST00000402696,p.L286R|uc011blt.2,p.L159R|NM_001063,p.L286R|uc003epu.2,p.L286R|uc003epv.2,p.L286R|ENST00000264998,p.L159R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011blt.2	nonsynonymous SNV	exon6	c.T476G	p.L159R	SMGGKEDLIWELLNQAQEHFGKDKS	SMGGKEDLIWELRNQAQEHFGKDKS	1.0	3.0	unscreened	-	4186_3:133475840-133475840 T>G_SMGGKEDLIWELRNQAQEHFGKDKS
7:63727197-63727197 G>T	0.0	4186	BREAST	-	-	-	-	ZNF679	uc003tsx.3,p.A396S|ENST00000255746,p.A396S|NM_153363,p.A396S|ENST00000421025,p.A396S	protein_coding	uc003tsx.3	nonsynonymous SNV	exon5	c.G1186T	p.A396S	ECDKAFKWSSSLANHKSMHTGEKPY	ECDKAFKWSSSLSNHKSMHTGEKPY	1.0	1.0	unscreened	-	4186_7:63727197-63727197 G>T_ECDKAFKWSSSLSNHKSMHTGEKPY
20:13753192-13753192 T>G	0.0	4186	BREAST	-	-	-	-	ESF1	NM_016649,p.S407R|uc002wok.2,p.S407R|NM_001276380,p.S407R|uc002woj.3,p.S407R|ENST00000202816,p.S407R	protein_coding	uc002wok.2	nonsynonymous SNV	exon5	c.A1219C	p.S407R	KEEQVQGPVELLSIPEDAPEKDWTS	KEEQVQGPVELLRIPEDAPEKDWTS	5.0	6.0	unscreened	-	4186_20:13753192-13753192 T>G_KEEQVQGPVELLRIPEDAPEKDWTS
3:184104364-184104364 G>A	0.0	4186	BREAST	-	-	-	-	CHRD	uc010hyc.3,p.D263N|ENST00000450923,p.D673N|uc003fox.3,p.D673N|uc003fow.3,p.D303N|NM_003741,p.D673N|ENST00000204604,p.D673N|uc003fov.3,p.D673N|uc003foy.3,p.D303N|ENST00000348986,p.D633N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hyc.3	nonsynonymous SNV	exon13	c.G787A	p.D263N	AGAEGVRALGAPDTASAAPPVVPGL	AGAEGVRALGAPNTASAAPPVVPGL	3.0	3.0	unscreened	-	4186_3:184104364-184104364 G>A_AGAEGVRALGAPNTASAAPPVVPGL
1:245133536-245133536 G>A	0.0	4186	BREAST	-	-	-	-	LOC101928068	uc001ibd.2,p.E38K|ENST00000366522,p.E38K	 protein_coding, processed_transcript,retained_intron	uc001ibd.2	nonsynonymous SNV	exon1	c.G112A	p.E38K	ASGLPPARGSWRETGTGRALGASSP	ASGLPPARGSWRKTGTGRALGASSP	6.0	2.0	unscreened	-	4186_1:245133536-245133536 G>A_ASGLPPARGSWRKTGTGRALGASSP
19:39798734-39798734 C>A	0.0	4186	BREAST	-	-	-	-	LRFN1	uc002okw.2,p.V619F|NM_020862,p.V619F|ENST00000248668,p.V619F	protein_coding	uc002okw.2	nonsynonymous SNV	exon2	c.G1855T	p.V619F	ALREVESQAAPAVAVEAKAMEAETA	ALREVESQAAPAFAVEAKAMEAETA	2.0	6.0	unscreened	-	4186_19:39798734-39798734 C>A_ALREVESQAAPAFAVEAKAMEAETA
15:40750818-40750818 G>A	1.0	4186	BREAST	-	-	-	-	BAHD1	NM_014952,p.R52H|uc001zlu.2,p.R52H|uc010bbp.1,p.R52H|NM_001301132,p.R52H|ENST00000416165,p.R52H|ENST00000561234,p.R52H|uc001zlv.2,p.R52H|ENST00000560846,p.R52H|uc001zlt.2,p.R52H	retained_intron, protein_coding	uc010bbp.1	nonsynonymous SNV	exon2	c.G155A	p.R52H	GMPESPGHLTGRRKNYPLRKRPLVP	GMPESPGHLTGRHKNYPLRKRPLVP	5.0	6.0	-	-	4186_15:40750818-40750818 G>A_GMPESPGHLTGRHKNYPLRKRPLVP
19:4513604-4513604 C>T	0.0	4186	BREAST	-	-	-	-	PLIN4	NM_001080400,p.G109E|ENST00000301286,p.G109E|uc002mar.1,p.G109E	protein_coding	uc002mar.1	nonsynonymous SNV	exon3	c.G326A	p.G109E	ASVVDVAKGVVQGGLDTTRSALTGT	ASVVDVAKGVVQEGLDTTRSALTGT	2.0	2.0	unscreened	-	4186_19:4513604-4513604 C>T_ASVVDVAKGVVQEGLDTTRSALTGT
4:79430128-79430128 G>A	0.0	4186	BREAST	-	-	-	-	FRAS1	uc003hlb.2,p.D3250N|uc003hlc.1,p.D252N|NM_025074,p.D3250N|ENST00000264895,p.D3250N	retained_intron, protein_coding, nonsense_mediated_decay	uc003hlc.1	nonsynonymous SNV	exon4	c.G754A	p.D252N	GNGARSPFETITDNTPFTSVNHMVL	GNGARSPFETITNNTPFTSVNHMVL	4.0	4.0	unscreened	-	4186_4:79430128-79430128 G>A_GNGARSPFETITNNTPFTSVNHMVL
1:185190994-185190994 T>G	0.0	4186	BREAST	-	-	-	-	SWT1	ENST00000367501,p.L712R|NM_017673,p.L712R|ENST00000367500,p.L712R|uc001grh.4,p.L712R|NM_001105518,p.L712R|uc001grg.4,p.L712R	protein_coding	uc001grh.4	nonsynonymous SNV	exon15	c.T2135G	p.L712R	NLLQTFAEVKTKLKPNSSENTVTKK	NLLQTFAEVKTKRKPNSSENTVTKK	6.0	2.0	unscreened	-	4186_1:185190994-185190994 T>G_NLLQTFAEVKTKRKPNSSENTVTKK
2:110372660-110372660 G>C	0.0	4186	BREAST	-	-	-	-	SOWAHC	NM_023016,p.Q198H|uc002tfb.3,p.Q198H|ENST00000356454,p.Q198H	protein_coding	uc002tfb.3	nonsynonymous SNV	exon1	c.G594C	p.Q198H	ADRGSSLVGATAQRPARQNLRDLVM	ADRGSSLVGATAHRPARQNLRDLVM	1.0	2.0	unscreened	-	4186_2:110372660-110372660 G>C_ADRGSSLVGATAHRPARQNLRDLVM
16:24581104-24581104 A>C	0.0	4186	BREAST	-	-	-	-	RBBP6	uc002dmh.3,p.K1031N|uc010vcb.1,p.K898N|uc002dmk.3,p.K864N|NM_018703,p.K997N|ENST00000348022,p.K997N|NM_006910,p.K1031N|ENST00000319715,p.K1031N|uc002dmi.3,p.K997N|ENST00000564314,p.K898N	retained_intron, protein_coding	uc010vcb.1	nonsynonymous SNV	exon15	c.A2694C	p.K898N	TKRKNDGSAVSKKENIVKPAKGPQE	TKRKNDGSAVSKNENIVKPAKGPQE	9.0	3.0	unscreened	-	4186_16:24581104-24581104 A>C_TKRKNDGSAVSKNENIVKPAKGPQE
18:7906533-7906533 C>G	0.0	4186	BREAST	-	-	-	-	PTPRM	NM_001105244,p.Q167E|ENST00000332175,p.Q167E|NM_002845,p.Q167E|ENST00000400053,p.Q105E|uc010dkv.3,p.Q167E|ENST00000400060,p.Q167E|uc002knn.4,p.Q167E|ENST00000580170,p.Q167E	retained_intron, protein_coding, processed_transcript	uc010dkv.3	nonsynonymous SNV	exon4	c.C499G	p.Q167E	YQVIFEVITSGHQGYLAIDEVKVLG	YQVIFEVITSGHEGYLAIDEVKVLG	4.0	4.0	unscreened	-	4186_18:7906533-7906533 C>G_YQVIFEVITSGHEGYLAIDEVKVLG
2:152499785-152499785 C>T	0.0	4186	BREAST	-	-	-	-	NEB	ENST00000409198,p.R2680Q|ENST00000603639,p.R2680Q|uc010fnx.3,p.R2680Q|ENST00000172853,p.R2680Q|uc002txu.3,p.R2680Q|uc021vrd.1,p.R2680Q|NM_004543,p.R2680Q|ENST00000604864,p.R2680Q|NM_001271208,p.R2680Q|uc021vrc.1,p.R2680Q|uc021vrb.1,p.R2680Q|ENST00000397345,p.R2680Q|NM_001164507,p.R2680Q|uc031rpp.1,p.R2680Q|ENST00000427231,p.R2680Q|NM_001164508,p.R2680Q	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon58	c.G8039A	p.R2680Q	MTSGSLEDEKNKRATQILSDHVYRQ	MTSGSLEDEKNKQATQILSDHVYRQ	1.0	8.0	-	-	4186_2:152499785-152499785 C>T_MTSGSLEDEKNKQATQILSDHVYRQ
12:131781391-131781391 C>T	0.0	4186	BREAST	-	-	-	-	LINC01257,LOC338797	uc001uix.4,p.G52S	protein_coding	uc001uix.4	nonsynonymous SNV	exon2	c.G154A	p.G52S	SLALPKTTQSMRGGAGVQAAHQGSD	SLALPKTTQSMRSGAGVQAAHQGSD	1.0	8.0	unscreened	-	4186_12:131781391-131781391 C>T_SLALPKTTQSMRSGAGVQAAHQGSD
21:43327137-43327137 G>A	0.0	4186	BREAST	-	-	-	-	C2CD2	uc002yzt.3,p.R44C|ENST00000329623,p.R273C|ENST00000380486,p.R428C|uc002yzx.1,p.R273C|uc002yzv.3,p.R273C|NM_199050,p.R273C|NM_015500,p.R428C|uc002yzw.3,p.R428C|uc002yzu.3,p.R260C	retained_intron, protein_coding, processed_transcript	uc002yzx.1	nonsynonymous SNV	exon9	c.C817T	p.R273C	VVTTVTAVKTKPRVDVGRASPLSSD	VVTTVTAVKTKPCVDVGRASPLSSD	6.0	7.0	unscreened	-	4186_21:43327137-43327137 G>A_VVTTVTAVKTKPCVDVGRASPLSSD
5:31799517-31799517 G>C	0.0	4186	BREAST	-	-	-	-	PDZD2	uc003jhl.3,p.E54D|ENST00000438447,p.E54D|NM_178140,p.E54D|uc003jhm.3,p.E54D|ENST00000282493,p.E54D	retained_intron, protein_coding, processed_transcript	uc003jhm.3	nonsynonymous SNV	exon1	c.G162C	p.E54D	LQEYIQLNFAVDESTVPPDHSPPEM	LQEYIQLNFAVDDSTVPPDHSPPEM	5.0	6.0	-	-	4186_5:31799517-31799517 G>C_LQEYIQLNFAVDDSTVPPDHSPPEM
1:20998611-20998611 G>A	0.0	4186	BREAST	-	-	-	-	KIF17	NM_001287212,p.R748C|NM_001122819,p.R848C|uc009vpx.3,p.R218C|uc001bdp.4,p.R126C|NM_020816,p.R848C|uc001bdr.4,p.R848C|ENST00000400463,p.R848C|uc001bds.4,p.R848C|ENST00000247986,p.R848C|ENST00000375044,p.R748C	protein_coding, processed_transcript	uc009vpx.3	nonsynonymous SNV	exon6	c.C652T	p.R218C	FQLEKIDYLATIRRQERDSMLLQQL	FQLEKIDYLATICRQERDSMLLQQL	1.0	8.0	-	-	4186_1:20998611-20998611 G>A_FQLEKIDYLATICRQERDSMLLQQL
22:30639731-30639731 G>A	0.0	4186	BREAST	-	-	ID=COSM1033239;OCCURENCE=1(endometrium)	-	LIF	ENST00000249075,p.S173L|uc003agz.3,p.S173L|NM_002309,p.S173L	protein_coding	uc003agz.3	nonsynonymous SNV	exon3	c.C518T	p.S173L	VGHVDVTYGPDTSGKDVFQKKKLGC	VGHVDVTYGPDTLGKDVFQKKKLGC	1.0	8.0	-	-	4186_22:30639731-30639731 G>A_VGHVDVTYGPDTLGKDVFQKKKLGC
14:24000804-24000804 C>T	0.0	4186	BREAST	-	-	-	-	ZFHX2	NM_033400,p.D896N|uc010tno.2,p.D896N|ENST00000419474,p.D896N|uc001wke.3,p.D39N	protein_coding	uc010tno.2	nonsynonymous SNV	exon4	c.G2686A	p.D896N	AVLQHLRTPAHRDAQAQRRLQLLQN	AVLQHLRTPAHRNAQAQRRLQLLQN	4.0	5.0	-	-	4186_14:24000804-24000804 C>T_AVLQHLRTPAHRNAQAQRRLQLLQN
16:15931836-15931836 C>T	0.0	4186	BREAST	-	-	-	1	MYH11	uc002deb.3,p.E92K|ENST00000576790,p.E92K|uc002ddw.3,p.E92K|NM_022844,p.E92K|ENST00000452625,p.E92K|ENST00000338282,p.E92K|NM_001040113,p.E92K|uc002ddv.3,p.E92K|NM_002474,p.E92K|NM_001040114,p.E92K|ENST00000300036,p.E92K|uc002ddy.3,p.E92K|uc002ddx.3,p.E92K|ENST00000396324,p.E92K	retained_intron, protein_coding, processed_transcript	uc002deb.3	nonsynonymous SNV	exon2	c.G274A	p.E92K	NPPKFSKVEDMAELTCLNEASVLHN	NPPKFSKVEDMAKLTCLNEASVLHN	2.0	6.0	-	-	4186_16:15931836-15931836 C>T_NPPKFSKVEDMAKLTCLNEASVLHN
6:12719076-12719076 C>G	0.0	4186	BREAST	-	-	-	-	PHACTR1	uc003nag.2,p.Q34E|uc011dir.2,p.Q34E|ENST00000379350,p.Q34E|NM_030948,p.Q34E|uc003nai.3,p.Q34E|uc010jpc.3,p.Q34E|uc003nah.2,p.Q34E|ENST00000379348,p.Q34E|ENST00000332995,p.Q34E|NM_001242648,p.Q34E	protein_coding, processed_transcript	uc011dir.2	nonsynonymous SNV	exon3	c.C100G	p.Q34E	ESAQRFFYSQGAQARRATLLLPPTL	ESAQRFFYSQGAEARRATLLLPPTL	1.0	7.0	unscreened	-	4186_6:12719076-12719076 C>G_ESAQRFFYSQGAEARRATLLLPPTL
11:12183722-12183722 A>G	0.0	4186	BREAST	-	-	-	-	MICAL2	uc001mkb.3,p.E7G|uc001mka.3,p.E7G|ENST00000537344,p.E7G|uc010rch.1,p.E7G|ENST00000525119,p.E7G|NM_014632,p.E7G|ENST00000379612,p.E7G|uc010rci.2,p.E7G|NM_001282665,p.E7G|NM_001282667,p.E7G|ENST00000532420,p.E7G|NM_001282666,p.E7G|NM_001282668,p.E7G|NM_001282664,p.E7G|ENST00000524685,p.E7G|ENST00000256194,p.E7G|ENST00000527546,p.E7G|ENST00000342902,p.E7G|uc001mkc.3,p.E7G|NM_001282663,p.E7G|uc001mjy.3,p.E7G|ENST00000532179,p.E7G|uc001mjz.3,p.E7G|ENST00000533389,p.E7G|ENST00000526065,p.E7G	retained_intron, protein_coding, processed_transcript	uc010rci.2	nonsynonymous SNV	exon2	c.A20G	p.E7G	MGENEDEKQAQAGQVFENF	MGENEDGKQAQAGQVFENF	8.0	3.0	unscreened	-	4186_11:12183722-12183722 A>G_MGENEDGKQAQAGQVFENF
4:87696678-87696678 G>A	0.0	4186	BREAST	-	-	-	1	PTPN13	NM_080683,p.E1922K|ENST00000427191,p.E1903K|ENST00000411767,p.E1922K|ENST00000436978,p.E1927K|uc003hqc.1,p.E288K|ENST00000511467,p.E1927K|NM_080684,p.E1731K|NM_080685,p.E1927K|NM_006264,p.E1903K|uc003hqb.3,p.E1731K|uc003hpz.3,p.E1922K|ENST00000316707,p.E1731K|uc003hpy.3,p.E1927K|uc003hqa.3,p.E1903K	retained_intron, protein_coding	uc003hqc.1	nonsynonymous SNV	exon7	c.G862A	p.E288K	ISDINPRSVAAIEGNLQLLDVIHYV	ISDINPRSVAAIKGNLQLLDVIHYV	4.0	7.0	-	-	4186_4:87696678-87696678 G>A_ISDINPRSVAAIKGNLQLLDVIHYV
X:47486634-47486634 A>C	0.0	4186	BREAST	-	-	-	-	CFP	NM_001145252,p.C224W|uc004dig.4,p.C224W|uc010nhu.2,p.C224W|uc004dii.1,p.C160W|ENST00000469388,p.C89W|ENST00000377005,p.C224W|uc004dih.3,p.C224W|NM_002621,p.C224W|ENST00000247153,p.C224W|ENST00000396992,p.C224W	retained_intron, protein_coding, processed_transcript	uc010nhu.2	nonsynonymous SNV	exon5	c.T672G	p.C224W	GPHEPKETRSRKCSAPEPSQKPPGK	GPHEPKETRSRKWSAPEPSQKPPGK	5.0	8.0	-	-	4186_X:47486634-47486634 A>C_GPHEPKETRSRKWSAPEPSQKPPGK
19:57642033-57642033 G>A	0.0	4186	BREAST	-	-	-	-	USP29	uc002qny.3,p.E664K|uc021vci.1,p.E664K|ENST00000254181,p.E664K|NM_020903,p.E664K|ENST00000598197,p.E664K	protein_coding	uc021vci.1	nonsynonymous SNV	exon1	c.G1990A	p.E664K	MDQGDISLPVMYEDGGKLISSPDTR	MDQGDISLPVMYKDGGKLISSPDTR	1.0	5.0	-	-	4186_19:57642033-57642033 G>A_MDQGDISLPVMYKDGGKLISSPDTR
3:9027277-9027277 C>T	0.0	4186	BREAST	-	-	-	2	SRGAP3	NM_014850,p.V1076M|NM_001033117,p.V1052M|ENST00000360413,p.V1052M|uc003brf.2,p.V1076M|uc003brg.2,p.V1052M|ENST00000383836,p.V1076M	retained_intron, protein_coding, processed_transcript	uc003brg.2	nonsynonymous SNV	exon22	c.G3154A	p.V1052M	VQHRSSSSSSSGVGSPAVTPTEKMF	VQHRSSSSSSSGMGSPAVTPTEKMF	4.0	8.0	-	-	4186_3:9027277-9027277 C>T_VQHRSSSSSSSGMGSPAVTPTEKMF
3:108081199-108081199 A>C	0.0	4186	BREAST	-	-	-	-	HHLA2	uc010hpu.3,p.Q338H|NM_007072,p.Q338H|ENST00000467562,p.Q274H|ENST00000491820,p.Q338H|uc003dwy.4,p.Q338H|NM_001282557,p.Q338H|NM_001282558,p.Q338H|ENST00000489514,p.Q338H|ENST00000467761,p.Q338H|uc011bhl.2,p.Q274H|NM_001282559,p.Q274H|NM_001282556,p.Q338H|ENST00000357759,p.Q338H|uc003dwz.3,p.Q338H	protein_coding	uc011bhl.2	nonsynonymous SNV	exon8	c.A822C	p.Q274H	LLTIHTVHVEPSQETASHNKGLWIL	LLTIHTVHVEPSHETASHNKGLWIL	1.0	8.0	unscreened	-	4186_3:108081199-108081199 A>C_LLTIHTVHVEPSHETASHNKGLWIL
2:73784451-73784451 G>C	0.0	4186	BREAST	-	-	-	-	ALMS1	uc002sjf.1,p.E3352Q|ENST00000264448,p.E3394Q|uc002sjh.1,p.E2782Q|uc002sjg.3,p.E2782Q|ENST00000409009,p.E3352Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002sjh.1	nonsynonymous SNV	exon7	c.G8344C	p.E2782Q	STRAVTEAAQAKEKESLQKDTADSS	STRAVTEAAQAKQKESLQKDTADSS	6.0	2.0	unscreened	-	4186_2:73784451-73784451 G>C_STRAVTEAAQAKQKESLQKDTADSS
6:39869776-39869776 T>G	0.0	4186	BREAST	-	-	-	-	DAAM2	ENST00000538976,p.V1056G|ENST00000398904,p.V1057G|NM_015345,p.V1056G|ENST00000274867,p.V1057G|uc003oox.3,p.V1056G|uc003oow.3,p.V1057G|NM_001201427,p.V1057G	retained_intron, protein_coding, processed_transcript	uc003oox.3	nonsynonymous SNV	exon25	c.T3167G	p.V1056G	RSRKRSGSQALEVTRERAINRLNY	RSRKRSGSQALEGTRERAINRLNY	4.0	3.0	unscreened	-	4186_6:39869776-39869776 T>G_RSRKRSGSQALEGTRERAINRLNY
14:19553789-19553789 G>A	0.0	4186	BREAST	-	-	-	-	POTEG	ENST00000547889,p.D125N|uc001vuz.1,p.D125N|ENST00000552966,p.D125N|NM_001005356,p.D125N|ENST00000409832,p.D125N	protein_coding, nonsense_mediated_decay	uc001vuz.1	nonsynonymous SNV	exon1	c.G373A	p.D125N	GKSKVGPWGDYDDSAFMEPRYHVRR	GKSKVGPWGDYDNSAFMEPRYHVRR	1.0	3.0	-	-	4186_14:19553789-19553789 G>A_GKSKVGPWGDYDNSAFMEPRYHVRR
1:150234664-150234664 G>A	0.0	4186	BREAST	-	-	-	-	CA14	uc001etx.3,p.E122K|ENST00000369111,p.E122K|NM_012113,p.E122K	protein_coding, processed_transcript	uc001etx.3	nonsynonymous SNV	exon4	c.G364A	p.E122K	LHWGQKGSPGGSEHQINSEATFAEL	LHWGQKGSPGGSKHQINSEATFAEL	1.0	5.0	unscreened	-	4186_1:150234664-150234664 G>A_LHWGQKGSPGGSKHQINSEATFAEL
8:139649035-139649035 T>G	0.0	4186	BREAST	-	-	-	-	COL22A1	uc011ljo.2,p.S449R|NM_152888,p.S1169R|uc003yvd.3,p.S1169R|ENST00000435777,p.S1149R|ENST00000303045,p.S1169R	protein_coding, processed_transcript	uc011ljo.2	nonsynonymous SNV	exon30	c.A1345C	p.S449R	LPGPPGIAGPQGSQGERGADGEVGQ	LPGPPGIAGPQGRQGERGADGEVGQ	1.0	8.0	unscreened	-	4186_8:139649035-139649035 T>G_LPGPPGIAGPQGRQGERGADGEVGQ
14:105414683-105414683 G>C	0.0	4186	BREAST	-	-	-	-	AHNAK2	NM_138420,p.Q2369E|uc001ypx.2,p.Q2269E|ENST00000333244,p.Q2369E|uc010axc.1,p.Q2369E	retained_intron, protein_coding	uc010axc.1	nonsynonymous SNV	exon7	c.C7105G	p.Q2369E	MQGDLKTTDLSVQPPSADLEVQAGQ	MQGDLKTTDLSVEPPSADLEVQAGQ	5.0	4.0	-	-	4186_14:105414683-105414683 G>C_MQGDLKTTDLSVEPPSADLEVQAGQ
19:22847469-22847469 G>A	0.0	4186	BREAST	-	-	-	-	ZNF492	ENST00000456783,p.G333E|uc002nqw.3,p.G333E|NM_020855,p.G333E	protein_coding	uc002nqw.3	nonsynonymous SNV	exon4	c.G998A	p.G333E	LSHLTTHKRIHSGEKPYKCEECGKA	LSHLTTHKRIHSEEKPYKCEECGKA	3.0	3.0	unscreened	-	4186_19:22847469-22847469 G>A_LSHLTTHKRIHSEEKPYKCEECGKA
4:114199081-114199081 C>G	0.0	4186	BREAST	-	-	-	-	ANK2	ENST00000503423,p.S570C	retained_intron, protein_coding, processed_transcript	ENST00000503423	nonsynonymous SNV	exon17	c.C1709G	p.S570C	AKLLLQRRAAADSAGKNGYTPLHIA	AKLLLQRRAAADCAGKNGYTPLHIA	2.0	7.0	-	-	4186_4:114199081-114199081 C>G_AKLLLQRRAAADCAGKNGYTPLHIA
2:228882485-228882485 C>T	0.0	4186	BREAST	-	-	-	-	SPHKAP	ENST00000392056,p.E1029K|ENST00000344657,p.E1029K|uc010zlx.1,p.E1029K|NM_001142644,p.E1029K|uc002vpp.2,p.E1029K|uc002vpq.2,p.E1029K|NM_030623,p.E1029K	retained_intron, protein_coding	uc010zlx.1	nonsynonymous SNV	exon7	c.G3085A	p.E1029K	LMNRVVDESMNLEDVPDSVNLFANE	LMNRVVDESMNLKDVPDSVNLFANE	1.0	6.0	-	-	4186_2:228882485-228882485 C>T_LMNRVVDESMNLKDVPDSVNLFANE
3:119887201-119887201 G>T	0.0	4186	BREAST	-	-	-	-	GPR156	ENST00000315843,p.Q375K|uc011bjg.2,p.Q371K|uc011bjf.2,p.Q375K|ENST00000461057,p.Q371K|ENST00000464295,p.Q375K|NM_153002,p.Q375K|NM_001168271,p.Q371K	retained_intron, protein_coding, nonsense_mediated_decay	uc011bjg.2	nonsynonymous SNV	exon9	c.C1111A	p.Q371K	TEKNAVIESLQEQVNNAKEKIVRLM	TEKNAVIESLQEKVNNAKEKIVRLM	1.0	4.0	unscreened	-	4186_3:119887201-119887201 G>T_TEKNAVIESLQEKVNNAKEKIVRLM
2:162273046-162273046 C>G	0.0	4186	BREAST	-	-	-	-	TBR1	ENST00000389554,p.T42S|uc002ubw.1,p.T42S|NM_006593,p.T42S	retained_intron, protein_coding, processed_transcript	uc002ubw.1	nonsynonymous SNV	exon1	c.C125G	p.T42S	SELVLHDHPIISTTDNLERSSPLKK	SELVLHDHPIISSTDNLERSSPLKK	1.0	6.0	-	-	4186_2:162273046-162273046 C>G_SELVLHDHPIISSTDNLERSSPLKK
7:116409832-116409832 A>C	0.0	4186	BREAST	-	-	-	1	MET	NM_001127500,p.E924A|ENST00000318493,p.E924A|uc003vij.3,p.E906A|ENST00000397752,p.E906A|uc010lkh.3,p.E924A|uc011knj.2,p.E476A|NM_000245,p.E906A|ENST00000454623,p.E38A	protein_coding, processed_transcript	uc011knj.2	nonsynonymous SNV	exon12	c.A1427C	p.E476A	CTVPNDLLKLNSELNIEWKQAISST	CTVPNDLLKLNSALNIEWKQAISST	1.0	5.0	unscreened	-	4186_7:116409832-116409832 A>C_CTVPNDLLKLNSALNIEWKQAISST
19:55814170-55814170 G>C	0.0	4186	BREAST	-	-	-	-	BRSK1	NM_032430,p.E321D|uc002qkh.3,p.E16D|ENST00000309383,p.E321D|ENST00000326848,p.E16D|uc031rnb.1,p.E16D|ENST00000591774,p.E16D|uc021vbs.1,p.E321D|ENST00000590333,p.E337D|ENST00000585418,p.E321D|uc002qkf.3,p.E337D|uc002qkg.3,p.E321D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rnb.1	nonsynonymous SNV	exon2	c.G48C	p.E16D	LPSNGELDPDVLESMASLGCFRDRE	LPSNGELDPDVLDSMASLGCFRDRE	3.0	3.0	unscreened	-	4186_19:55814170-55814170 G>C_LPSNGELDPDVLDSMASLGCFRDRE
3:108224587-108224587 C>G	0.0	4186	BREAST	-	-	-	-	MYH15	ENST00000273353,p.E80Q|uc003dxa.1,p.E80Q|NM_014981,p.E80Q	retained_intron, protein_coding, processed_transcript	uc003dxa.1	nonsynonymous SNV	exon3	c.G238C	p.E80Q	VKGSEDDGTVIVETADGESLSIKED	VKGSEDDGTVIVQTADGESLSIKED	1.0	3.0	unscreened	-	4186_3:108224587-108224587 C>G_VKGSEDDGTVIVQTADGESLSIKED
1:245027192-245027192 C>T	1.0	4186	BREAST	-	-	-	-	HNRNPU	ENST00000444376,p.E140K|NM_004501,p.E140K|uc001iba.1,p.E140K|ENST00000283179,p.E140K|NM_031844,p.E140K|uc001iaz.1,p.E140K	retained_intron, protein_coding	uc001iba.1	nonsynonymous SNV	exon1	c.G418A	p.E140K	SEDENGDDQGFQEGEDELGDEEEGA	SEDENGDDQGFQKGEDELGDEEEGA	10.0	5.0	-	-	4186_1:245027192-245027192 C>T_SEDENGDDQGFQKGEDELGDEEEGA
19:45682762-45682762 G>C	0.0	4186	BREAST	-	-	-	-	BLOC1S3	ENST00000433642,p.E70Q|uc002pax.4,p.E70Q|NM_212550,p.E70Q|ENST00000587722,p.E70Q|uc021uvu.1,p.E70Q	protein_coding, processed_transcript	uc021uvu.1	nonsynonymous SNV	exon1	c.G208C	p.E70Q	GEAAETDSEPEPEPEPTAAPRDLPP	GEAAETDSEPEPQPEPTAAPRDLPP	6.0	3.0	unscreened	-	4186_19:45682762-45682762 G>C_GEAAETDSEPEPQPEPTAAPRDLPP
4:114199081-114199081 C>G	0.0	4186	BREAST	-	-	-	-	ANK2	NM_020977,p.S591C|ENST00000394537,p.S591C|uc003ibf.4,p.S591C|NM_001127493,p.S570C|ENST00000503271,p.S570C|uc003ibc.2,p.S567C|ENST00000504454,p.S606C|NM_001148,p.S591C|ENST00000264366,p.S591C|ENST00000357077,p.S591C|uc011cgb.1,p.S606C|uc003ibd.4,p.S570C|ENST00000506722,p.S570C|uc003ibe.4,p.S591C	retained_intron, protein_coding, processed_transcript	uc011cgb.1	nonsynonymous SNV	exon17	c.C1817G	p.S606C	AKLLLQRRAAADSAGKNGLTPLHVA	AKLLLQRRAAADCAGKNGLTPLHVA	2.0	7.0	-	-	4186_4:114199081-114199081 C>G_AKLLLQRRAAADCAGKNGLTPLHVA
5:74506657-74506657 A>C	0.0	4186	BREAST	-	-	-	-	ANKRD31	uc003kdo.2,p.L108V|NM_001164443,p.L108V|ENST00000506364,p.L108V|ENST00000274361,p.L108V	protein_coding, processed_transcript	uc003kdo.2	nonsynonymous SNV	exon4	c.T322G	p.L108V	QSQDETERNQALLQTRKNCSMFIGS	QSQDETERNQALVQTRKNCSMFIGS	1.0	3.0	unscreened	-	4186_5:74506657-74506657 A>C_QSQDETERNQALVQTRKNCSMFIGS
12:69218426-69218426 A>G	0.0	4186	BREAST	-	-	-	1	MDM2	ENST00000540352,p.E167G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000540352	nonsynonymous SNV	exon6	c.A500G	p.E167G	RPSTSSRRRAISETGS	RPSTSSRRRAISGTGS	9.0	6.0	unscreened	-	4186_12:69218426-69218426 A>G_RPSTSSRRRAISGTGS
10:133930899-133930899 G>A	0.0	4186	BREAST	-	-	-	-	JAKMIP3	ENST00000298622,p.V152I|NM_001105521,p.V152I|uc001lkx.4,p.V152I	protein_coding, processed_transcript	uc001lkx.4	nonsynonymous SNV	exon2	c.G454A	p.V152I	KEEAKKGFEVEKVKMQQEISELKGA	KEEAKKGFEVEKIKMQQEISELKGA	1.0	7.0	-	-	4186_10:133930899-133930899 G>A_KEEAKKGFEVEKIKMQQEISELKGA
4:126411160-126411160 A>C	0.0	4186	BREAST	-	-	-	1	FAT4	NM_024582,p.K4395Q|uc003ifi.1,p.K1872Q|NM_001291303,p.K4397Q|ENST00000394329,p.K4395Q|ENST00000335110,p.K2636Q|uc003ifj.4,p.K4395Q|NM_001291285,p.K4396Q|uc011cgp.2,p.K2636Q	retained_intron, protein_coding	uc011cgp.2	nonsynonymous SNV	exon15	c.A7906C	p.K2636Q	SLASISKTDPSVKIGCRGPNICASN	SLASISKTDPSVQIGCRGPNICASN	1.0	7.0	-	-	4186_4:126411160-126411160 A>C_SLASISKTDPSVQIGCRGPNICASN
11:124482908-124482908 T>G	0.0	4186	BREAST	-	-	-	-	PANX3	ENST00000284288,p.F72V|NM_052959,p.F72V|uc001qah.3,p.F72V	protein_coding	uc001qah.3	nonsynonymous SNV	exon2	c.T214G	p.F72V	SGSPISCFSPSNFSIRQAAYVDSSC	SGSPISCFSPSNVSIRQAAYVDSSC	1.0	5.0	unscreened	-	4186_11:124482908-124482908 T>G_SGSPISCFSPSNVSIRQAAYVDSSC
2:189910536-189910536 C>G	0.0	4186	BREAST	-	-	-	-	COL5A2	NM_000393,p.R1100T|uc002uqk.3,p.R1100T|ENST00000374866,p.R1100T|uc010frx.3,p.R676T	retained_intron, protein_coding	uc010frx.3	nonsynonymous SNV	exon30	c.G2027C	p.R676T	PGPVGAPGDAGQRGDPGSRGPIGPP	PGPVGAPGDAGQTGDPGSRGPIGPP	7.0	4.0	-	-	4186_2:189910536-189910536 C>G_PGPVGAPGDAGQTGDPGSRGPIGPP
1:50317174-50317174 A>C	0.0	4186	BREAST	-	-	-	-	AGBL4	NM_032785,p.N17K|ENST00000371838,p.N17K|uc010omx.1,p.N17K|ENST00000371839,p.N17K|ENST00000371836,p.N17K|uc001cru.2,p.N17K	protein_coding, processed_transcript	uc010omx.1	nonsynonymous SNV	exon2	c.T51G	p.N17K	SQSAPEAGNDMGNDDAIGGNVSKYI	SQSAPEAGNDMGKDDAIGGNVSKYI	1.0	7.0	unscreened	-	4186_1:50317174-50317174 A>C_SQSAPEAGNDMGKDDAIGGNVSKYI
12:69218426-69218426 A>G	0.0	4186	BREAST	-	-	-	1	MDM2	uc001sui.4,p.E173G|ENST00000393415,p.E167G|uc021rad.2,p.E66G|uc021rah.2,p.E137G|NM_001145337,p.E167G|ENST00000393416,p.E198G|uc009zqy.1,p.E162G|NM_002392,p.E173G|ENST00000539479,p.E167G|ENST00000462284,p.E173G|uc021rae.1,p.E162G|ENST00000350057,p.E142G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021rah.2	nonsynonymous SNV	exon5	c.A410G	p.E137G	RPSTSSRRRAISETEENSDELSGER	RPSTSSRRRAISGTEENSDELSGER	9.0	6.0	unscreened	-	4186_12:69218426-69218426 A>G_RPSTSSRRRAISGTEENSDELSGER
19:57088698-57088698 C>A	0.0	4186	BREAST	-	-	-	-	ZNF470	uc002qnl.4,p.Q301K|ENST00000330619,p.Q301K|NM_001001668,p.Q301K|ENST00000391709,p.Q301K	protein_coding, processed_transcript	uc002qnl.4	nonsynonymous SNV	exon6	c.C901A	p.Q301K	CGKAFSQNAHLVQHQRVHTGEKPYQ	CGKAFSQNAHLVKHQRVHTGEKPYQ	3.0	4.0	unscreened	-	4186_19:57088698-57088698 C>A_CGKAFSQNAHLVKHQRVHTGEKPYQ
9:35548524-35548524 G>C	0.0	4186	BREAST	-	-	-	-	RUSC2	uc003zww.3,p.R669T|NM_014806,p.R669T|ENST00000455600,p.R669T|ENST00000361226,p.R669T|NM_001135999,p.R669T|uc003zwx.4,p.R669T	protein_coding, processed_transcript	uc003zwx.4	nonsynonymous SNV	exon2	c.G2006C	p.R669T	PANSHTQRDARARADGGGTESRPVL	PANSHTQRDARATADGGGTESRPVL	2.0	7.0	-	-	4186_9:35548524-35548524 G>C_PANSHTQRDARATADGGGTESRPVL
1:152281771-152281771 A>C	0.0	4186	BREAST	-	-	-	-	FLG	ENST00000368799,p.V1864G|uc001ezu.1,p.V1864G|NM_002016,p.V1864G	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.T5591G	p.V1864G	SDVSRGQSGSRSVSRQTRNEKQSGD	SDVSRGQSGSRSGSRQTRNEKQSGD	1.0	3.0	-	-	4186_1:152281771-152281771 A>C_SDVSRGQSGSRSGSRQTRNEKQSGD
7:117067454-117067454 C>T	0.0	4186	BREAST	-	-	ID=COSM598561;OCCURENCE=1(lung)	-	ASZ1	uc003vjb.2,p.E21K|NM_130768,p.E21K|NM_001301821,p.E21K|ENST00000450714,p.E21K|uc011kno.1,p.E21K|ENST00000284629,p.E21K	retained_intron, protein_coding, nonsense_mediated_decay	uc011kno.1	nonsynonymous SNV	exon1	c.G61A	p.E21K	LPVAGGGESSESEDDGWEIGYLDRT	LPVAGGGESSESKDDGWEIGYLDRT	1.0	7.0	-	-	4186_7:117067454-117067454 C>T_LPVAGGGESSESKDDGWEIGYLDRT
12:43944794-43944794 G>A	0.0	4186	BREAST	-	-	ID=COSM3792586,COSM3792587,COSM3792588;OCCURENCE=1(urinary_tract)	-	ADAMTS20	NM_025003,p.S124L|uc010skx.2,p.S124L|ENST00000553158,p.S124L|ENST00000389420,p.S124L	protein_coding	uc010skx.2	nonsynonymous SNV	exon2	c.C371T	p.S124L	PERGAWESDAGPSDLRHCFYRGQVN	PERGAWESDAGPLDLRHCFYRGQVN	1.0	5.0	-	-	4186_12:43944794-43944794 G>A_PERGAWESDAGPLDLRHCFYRGQVN
16:58319856-58319856 C>A	0.0	4186	BREAST	-	-	-	-	PRSS54	NM_001080492,p.W169C|uc002enf.3,p.W169C|ENST00000569727,p.W169C|ENST00000569079,p.W70C|uc010vie.2,p.W70C|uc002eng.3,p.W169C|ENST00000219301,p.W169C|ENST00000543437,p.W70C|ENST00000567164,p.W169C	protein_coding, processed_transcript	uc010vie.2	nonsynonymous SNV	exon4	c.G210T	p.W70C	TPPVLQNCWVSGWNPTSATGNHMTM	TPPVLQNCWVSGCNPTSATGNHMTM	1.0	6.0	-	-	4186_16:58319856-58319856 C>A_TPPVLQNCWVSGCNPTSATGNHMTM
4:113435979-113435979 T>G	0.0	4186	BREAST	-	-	-	-	NEUROG2	NM_024019,p.N218T|ENST00000313341,p.N218T|uc003ias.3,p.N218T|uc021xqu.1,p.N218T	protein_coding	uc021xqu.1	nonsynonymous SNV	exon1	c.A653C	p.N218T	DSPSPASTWSCTNSPAPSSSVSSNS	DSPSPASTWSCTTSPAPSSSVSSNS	1.0	7.0	unscreened	-	4186_4:113435979-113435979 T>G_DSPSPASTWSCTTSPAPSSSVSSNS
9:100773600-100773600 G>C	1.0	4186	BREAST	-	-	-	-	ANP32B	ENST00000339399,p.E189Q|NM_006401,p.E189Q|uc004aya.3,p.E189Q	protein_coding, processed_transcript	uc004aya.3	nonsynonymous SNV	exon5	c.G565C	p.E189Q	EEDEDDEDGEEEEFDEEDDEDEDVE	EEDEDDEDGEEEQFDEEDDEDEDVE	8.0	5.0	-	-	4186_9:100773600-100773600 G>C_EEDEDDEDGEEEQFDEEDDEDEDVE
5:178358378-178358378 G>C	0.0	4186	BREAST	-	-	-	-	ZFP2	ENST00000520301,p.E22Q|ENST00000523286,p.E22Q|uc021yjb.1,p.E22Q|uc010jkx.1,p.E22Q|uc010jky.2,p.E22Q|ENST00000361362,p.E22Q|NM_030613,p.E22Q|uc003mjn.1,p.E22Q|ENST00000503510,p.E22Q	protein_coding	uc021yjb.1	nonsynonymous SNV	exon1	c.G64C	p.E22Q	TLGETWEPNNWLEGQQDSHLSQVGV	TLGETWEPNNWLQGQQDSHLSQVGV	3.0	6.0	unscreened	-	4186_5:178358378-178358378 G>C_TLGETWEPNNWLQGQQDSHLSQVGV
4:147788732-147788732 C>G	0.0	4186	BREAST	-	-	-	-	TTC29	uc003ikx.4,p.S294T|uc003ikw.4,p.S268T|ENST00000513335,p.S294T|ENST00000508306,p.S268T|uc010ipd.1,p.S268T|ENST00000504425,p.S268T|ENST00000398886,p.S294T|NM_001300761,p.S294T|ENST00000325106,p.S268T|NM_031956,p.S268T	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ipd.1	nonsynonymous SNV	exon8	c.G803C	p.S268T	ILIKASEIAKEGSDKKMEAEASYYL	ILIKASEIAKEGTDKKMEAEASYYL	1.0	5.0	unscreened	-	4186_4:147788732-147788732 C>G_ILIKASEIAKEGTDKKMEAEASYYL
1:60505750-60505750 C>T	0.0	4186	BREAST	-	-	-	-	C1orf87	uc001czs.2,p.E196K|NM_152377,p.E196K|ENST00000371201,p.E196K	protein_coding, processed_transcript	uc001czs.2	nonsynonymous SNV	exon5	c.G586A	p.E196K	ELKSRPLSSNLLEKLQKELKILDPI	ELKSRPLSSNLLKKLQKELKILDPI	1.0	6.0	unscreened	-	4186_1:60505750-60505750 C>T_ELKSRPLSSNLLKKLQKELKILDPI
18:72775702-72775702 G>A	0.0	4186	BREAST	-	-	-	-	ZNF407	uc002llw.2,p.E2009K|ENST00000299687,p.E2009K|NM_017757,p.E2009K	retained_intron, protein_coding, processed_transcript	uc002llw.2	nonsynonymous SNV	exon8	c.G6025A	p.E2009K	TELGEVEGRAGLEEQGRPGAKDVLI	TELGEVEGRAGLKEQGRPGAKDVLI	3.0	5.0	unscreened	-	4186_18:72775702-72775702 G>A_TELGEVEGRAGLKEQGRPGAKDVLI
5:82554412-82554412 G>A	0.0	4186	BREAST	-	-	-	-	XRCC4	uc003kic.3,p.R270K|uc003kib.3,p.R270K|uc003kie.3,p.R270K|ENST00000396027,p.R270K|ENST00000338635,p.R270K|ENST00000511817,p.R270K|uc003kia.1,p.R270K|NM_022406,p.R270K|NM_003401,p.R270K|uc003kid.3,p.R270K|NM_022550,p.R270K|ENST00000282268,p.R270K	protein_coding, processed_transcript	uc003kie.3	nonsynonymous SNV	exon7	c.G809A	p.R270K	ISSLDVTDIAPSRKRRQRMQRNLGT	ISSLDVTDIAPSKKRRQRMQRNLGT	4.0	5.0	unscreened	-	4186_5:82554412-82554412 G>A_ISSLDVTDIAPSKKRRQRMQRNLGT
5:64314128-64314128 G>C	1.0	4186	BREAST	-	-	-	-	CWC27	uc003jtn.1,p.E467Q|ENST00000381070,p.E467Q|NM_005869,p.E467Q	retained_intron, protein_coding, processed_transcript	uc003jtn.1	nonsynonymous SNV	exon14	c.G1399C	p.E467Q	KRRREESKKLMREKKERR	KRRREESKKLMRQKKERR	7.0	4.0	-	-	4186_5:64314128-64314128 G>C_KRRREESKKLMRQKKERR
2:74275098-74275098 C>T	1.0	4189	MELANOMA	-	-	-	-	TET3	uc002skb.5,p.S685F|uc031roi.1,p.S550F|NM_001287491,p.S685F|ENST00000305799,p.S592F|uc010fez.3,p.S550F|ENST00000409262,p.S550F	retained_intron, protein_coding	uc031roi.1	nonsynonymous SNV	exon1	c.C1649T	p.S550F	RDSLLPPTQEMRSPSPMTALQPGST	RDSLLPPTQEMRFPSPMTALQPGST	6.0	9.0	unscreened	-	4189_2:74275098-74275098 C>T_RDSLLPPTQEMRFPSPMTALQPGST
22:24133958-24133958 C>T	1.0	4189	MELANOMA	-	-	-	1	SMARCB1	NM_003073,p.R37C|NM_001007468,p.R37C|uc002zyc.3,p.R37C|uc002zyd.3,p.R37C|ENST00000407082,p.R37C|ENST00000344921,p.R37C|uc011ajb.1,p.R37C|ENST00000263121,p.R37C|uc002zyg.2,p.R37C|ENST00000417137,p.R37C|ENST00000407422,p.R37C|uc002zya.3,p.R37C|uc002zyb.3,p.R37C	protein_coding, processed_transcript	uc011ajb.1	nonsynonymous SNV	exon2	c.C109T	p.R37C	FYMIGSEVGNYLRMFRGSLYKRYPS	FYMIGSEVGNYLCMFRGSLYKRYPS	10.0	5.0	-	-	4189_22:24133958-24133958 C>T_FYMIGSEVGNYLCMFRGSLYKRYPS
2:48033630-48033630 G>A	1.0	4189	MELANOMA	-	-	-	1	MSH6	ENST00000538136,p.E979K|ENST00000234420,p.E1281K|NM_001281494,p.E979K|NM_001281492,p.E1151K|NM_000179,p.E1281K|uc002rwd.4,p.E1281K|uc010fbj.3,p.E979K|NM_001281493,p.E979K|uc010yoj.2,p.E979K|ENST00000540021,p.E1151K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010yoj.2	nonsynonymous SNV	exon9	c.G2935A	p.E979K	CMVENECEDPSQETITFLYKFIKGA	CMVENECEDPSQKTITFLYKFIKGA	10.0	2.0	-	-	4189_2:48033630-48033630 G>A_CMVENECEDPSQKTITFLYKFIKGA
10:16737059-16737059 G>A	1.0	4189	MELANOMA	-	-	-	-	RSU1	NM_012425,p.H232Y|ENST00000345264,p.H232Y|uc001iom.3,p.H179Y|NM_152724,p.H179Y|uc001iol.3,p.H232Y|ENST00000602389,p.H179Y|uc001iok.3,p.H232Y|ENST00000377921,p.H232Y	protein_coding, nonsense_mediated_decay	uc001iom.3	nonsynonymous SNV	exon7	c.C535T	p.H179Y	TPIADQFQLGVSHVFEYIRSETYKY	TPIADQFQLGVSYVFEYIRSETYKY	10.0	8.0	-	-	4189_10:16737059-16737059 G>A_TPIADQFQLGVSYVFEYIRSETYKY
17:73826131-73826131 A>C	1.0	4189	MELANOMA	-	-	-	-	UNC13D	ENST00000207549,p.L978V|ENST00000412096,p.L978V|NM_199242,p.L978V|uc002jpp.3,p.L978V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jpp.3	nonsynonymous SNV	exon30	c.T2932G	p.L978V	RETQKHKKDLHPLFDETFEFLVPAE	RETQKHKKDLHPVFDETFEFLVPAE	7.0	5.0	-	-	4189_17:73826131-73826131 A>C_RETQKHKKDLHPVFDETFEFLVPAE
X:70597022-70597022 C>T	1.0	4189	MELANOMA	-	-	-	-	TAF1	NM_001286074,p.P252L|ENST00000449580,p.P231L|NM_138923,p.P231L|NM_004606,p.P252L|ENST00000276072,p.P252L|ENST00000423759,p.P252L|uc004dzu.4,p.P231L|uc004dzt.4,p.P252L|ENST00000373790,p.P231L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004dzu.4	nonsynonymous SNV	exon5	c.C692T	p.P231L	ATKLLPSVTELFPEFRPGKVLRFLR	ATKLLPSVTELFLEFRPGKVLRFLR	9.0	10.0	-	-	4189_X:70597022-70597022 C>T_ATKLLPSVTELFLEFRPGKVLRFLR
19:53046592-53046592 C>T	1.0	4189	MELANOMA	-	-	-	-	ZNF808	uc010epq.1,p.L19F|ENST00000461321,p.L19F|ENST00000465448,p.L19F|NM_001039886,p.L19F|ENST00000461779,p.L19F|ENST00000359798,p.L19F	protein_coding, nonsense_mediated_decay	uc010epq.1	nonsynonymous SNV	exon3	c.C55T	p.L19F	AQKRKGKESGMALPQGRLTFRDVAI	AQKRKGKESGMAFPQGRLTFRDVAI	9.0	5.0	unscreened	-	4189_19:53046592-53046592 C>T_AQKRKGKESGMAFPQGRLTFRDVAI
X:2406848-2406848 G>A	1.0	4189	MELANOMA	-	-	-	-	ZBED1	uc004cqg.2,p.P638L|NM_001171136,p.P638L|ENST00000381222,p.P638L|uc004cqh.2,p.P638L|uc022brx.1,p.P638L|ENST00000381223,p.P638L|NM_001171135,p.P638L|uc022brw.1,p.P638L|NM_004729,p.P638L|ENST00000381218,p.P638L	protein_coding	uc022brx.1	nonsynonymous SNV	exon1	c.C1913T	p.P638L	ANVVSAKRNRLAPAHVDEQVFLYEN	ANVVSAKRNRLALAHVDEQVFLYEN	9.0	5.0	-	-	4189_X:2406848-2406848 G>A_ANVVSAKRNRLALAHVDEQVFLYEN
7:140051074-140051074 G>T	1.0	4189	MELANOMA	-	-	-	-	SLC37A3	uc003vvp.3,p.P294Q|NM_032295,p.P294Q|ENST00000447932,p.P294Q|ENST00000340308,p.P294Q|uc010lnh.3,p.P294Q|uc003vvo.3,p.P294Q|NM_001287498,p.P294Q|NM_207113,p.P294Q|ENST00000326232,p.P294Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lnh.3	nonsynonymous SNV	exon9	c.C881A	p.P294Q	SFYQACCLPGVIPYSLAYACLKLVN	SFYQACCLPGVIQYSLAYACLKLVN	8.0	7.0	-	-	4189_7:140051074-140051074 G>T_SFYQACCLPGVIQYSLAYACLKLVN
1:43240907-43240907 T>A	1.0	4189	MELANOMA	-	-	-	-	C1orf50	uc001cia.4,p.F148I|ENST00000372525,p.F148I|NM_024097,p.F148I	protein_coding, processed_transcript	uc001cia.4	nonsynonymous SNV	exon5	c.T442A	p.F148I	SPKEWGTSCPHDFLGAYKLQHDLSW	SPKEWGTSCPHDILGAYKLQHDLSW	6.0	7.0	-	-	4189_1:43240907-43240907 T>A_SPKEWGTSCPHDILGAYKLQHDLSW
12:7170260-7170260 C>T	1.0	4189	MELANOMA	-	-	-	-	C1S	NM_201442,p.P94S|NM_001734,p.P94S|ENST00000328916,p.P94S|ENST00000406697,p.P94S|uc001qsk.3,p.P94S|ENST00000360817,p.P94S|uc001qsl.3,p.P94S|uc001qsj.3,p.P94S|ENST00000403949,p.P94S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001qsl.3	nonsynonymous SNV	exon4	c.C280T	p.P94S	LCGQRSSNNPHSPIVEEFQVPYNKL	LCGQRSSNNPHSSIVEEFQVPYNKL	10.0	7.0	unscreened	-	4189_12:7170260-7170260 C>T_LCGQRSSNNPHSSIVEEFQVPYNKL
6:56966647-56966647 C>T	1.0	4189	MELANOMA	-	-	-	-	ZNF451	uc011dxn.3,p.P478L|ENST00000370708,p.P478L|uc003pdo.4,p.P415L|NM_001257273,p.P478L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxn.3	nonsynonymous SNV	exon4	c.C1433T	p.P478L	LTKKTQEKISHLPFDGTSLFGQDVK	LTKKTQEKISHLLFDGTSLFGQDVK	9.0	2.0	-	-	4189_6:56966647-56966647 C>T_LTKKTQEKISHLLFDGTSLFGQDVK
16:2816138-2816138 C>T	1.0	4189	MELANOMA	-	-	-	-	SRRM2	uc002crk.3,p.P1870L|uc010bsu.1,p.P1774L|uc002crj.1,p.P1774L|uc002crl.1,p.P1870L|ENST00000301740,p.P1870L|NM_016333,p.P1870L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bsu.1	nonsynonymous SNV	exon10	c.C5321T	p.P1774L	PAPWKRSRSRASPATHRRSRSRTPL	PAPWKRSRSRASLATHRRSRSRTPL	10.0	6.0	-	-	4189_16:2816138-2816138 C>T_PAPWKRSRSRASLATHRRSRSRTPL
17:56423641-56423641 G>A	1.0	4189	MELANOMA	-	-	ID=COSM106392;OCCURENCE=1(skin)	-	SUPT4H1	ENST00000225504,p.A107V|ENST00000581540,p.A98V|uc002iwe.2,p.A107V|ENST00000580947,p.A107V|NM_003168,p.A107V|ENST00000577396,p.A66V	retained_intron, protein_coding, nonsense_mediated_decay	uc002iwe.2	nonsynonymous SNV	exon5	c.C320T	p.A107V	QGIVRELKSRGVAYKSRDTAIKT	QGIVRELKSRGVVYKSRDTAIKT	10.0	9.0	-	-	4189_17:56423641-56423641 G>A_QGIVRELKSRGVVYKSRDTAIKT
12:7170261-7170261 C>T	1.0	4189	MELANOMA	-	-	-	-	C1S	NM_001734,p.P94L|uc001qsj.3,p.P94L|NM_201442,p.P94L|ENST00000403949,p.P94L|ENST00000406697,p.P94L|uc001qsk.3,p.P94L|ENST00000360817,p.P94L|ENST00000328916,p.P94L|uc001qsl.3,p.P94L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001qsl.3	nonsynonymous SNV	exon4	c.C281T	p.P94L	LCGQRSSNNPHSPIVEEFQVPYNKL	LCGQRSSNNPHSLIVEEFQVPYNKL	10.0	7.0	-	-	4189_12:7170261-7170261 C>T_LCGQRSSNNPHSLIVEEFQVPYNKL
2:179634573-179634573 G>A	1.0	4189	MELANOMA	-	-	ID=COSM476566;OCCURENCE=1(kidney)	-	TTN	NM_001256850,p.S2912F|NM_133379,p.S2912F|ENST00000460472,p.S2866F|NM_133378,p.S2912F|ENST00000342992,p.S2912F|ENST00000342175,p.S2866F|uc021vsy.2,p.S2912F|ENST00000360870,p.S2912F|uc031rqd.1,p.S2912F|NM_133437,p.S2866F|ENST00000591111,p.S2912F|ENST00000359218,p.S2866F|uc002unb.3,p.S2912F|ENST00000589042,p.S2912F|uc021vta.2,p.S2866F|uc021vsz.2,p.S2866F|NM_133432,p.S2866F|uc021vtb.2,p.S2866F|NM_003319,p.S2866F|uc031rqc.1,p.S2912F|NM_001267550,p.S2912F	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon37	c.C8735T	p.S2912F	SFECEVSHFNVPSMWLKNGVEIEMS	SFECEVSHFNVPFMWLKNGVEIEMS	7.0	4.0	unscreened	-	4189_2:179634573-179634573 G>A_SFECEVSHFNVPFMWLKNGVEIEMS
19:57802894-57802894 A>C	1.0	4189	MELANOMA	-	-	-	-	ZNF460	uc010ygv.1,p.I288L|ENST00000360338,p.I329L|uc002qog.2,p.I329L|NM_006635,p.I329L|ENST00000537645,p.I288L	protein_coding	uc010ygv.1	nonsynonymous SNV	exon3	c.A862C	p.I288L	FYESTALIQHFIIHTGERPFKCLEC	FYESTALIQHFILHTGERPFKCLEC	9.0	5.0	unscreened	-	4189_19:57802894-57802894 A>C_FYESTALIQHFILHTGERPFKCLEC
1:26887238-26887238 G>A	1.0	4189	MELANOMA	-	-	-	-	RPS6KA1	uc010ofe.1,p.V321I|uc009vsl.1,p.V256I|NM_002953,p.V413I|NM_001006665,p.V422I|ENST00000531382,p.V422I|uc001bmr.1,p.V413I|ENST00000530003,p.V397I|uc010off.1,p.V397I|ENST00000526792,p.V321I|ENST00000374162,p.V321I|ENST00000374168,p.V413I|uc001bms.1,p.V422I|ENST00000374166,p.V402I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010off.1	nonsynonymous SNV	exon14	c.G1189A	p.V397I	HSVVQQLHGKNLVFSDGYVVKETIG	HSVVQQLHGKNLIFSDGYVVKETIG	9.0	2.0	-	-	4189_1:26887238-26887238 G>A_HSVVQQLHGKNLIFSDGYVVKETIG
6:42541553-42541553 C>T	1.0	4189	MELANOMA	-	-	-	-	UBR2	NM_001184801,p.P54S|ENST00000372899,p.P54S|uc003osf.3,p.P54S|NM_015255,p.P54S|uc011dur.2,p.P54S|ENST00000372901,p.P54S|ENST00000372903,p.P54S	protein_coding	uc011dur.2	nonsynonymous SNV	exon2	c.C160T	p.P54S	LAHYVPKIYCRGPNPFPQKEDMLAQ	LAHYVPKIYCRGSNPFPQKEDMLAQ	8.0	4.0	-	-	4189_6:42541553-42541553 C>T_LAHYVPKIYCRGSNPFPQKEDMLAQ
4:48545930-48545930 G>A	1.0	4189	MELANOMA	-	-	-	-	FRYL	ENST00000537810,p.S1829F|NM_015030,p.S1829F|uc003gyj.1,p.S124F|uc003gyi.1,p.S717F|ENST00000358350,p.S1829F|ENST00000503238,p.S1829F|uc003gyh.1,p.S1829F|uc003gyg.1,p.S525F	retained_intron, protein_coding, processed_transcript	uc003gyj.1	nonsynonymous SNV	exon3	c.C371T	p.S124F	ALSCSSRHYAGRSFQIFRALKQPLT	ALSCSSRHYAGRFFQIFRALKQPLT	9.0	3.0	-	-	4189_4:48545930-48545930 G>A_ALSCSSRHYAGRFFQIFRALKQPLT
19:53453689-53453689 G>A	1.0	4189	MELANOMA	-	-	-	-	ZNF816	ENST00000357666,p.H447Y|uc002qal.2,p.H447Y|NM_001202456,p.H447Y|NM_001202457,p.H447Y|NM_001031665,p.H447Y|uc021uzc.1,p.H447Y|uc002qam.2,p.H447Y|ENST00000444460,p.H447Y	protein_coding	uc021uzc.1	nonsynonymous SNV	exon4	c.C1339T	p.H447Y	RSDSYLAEHQRVHTGEKPYKCNKCG	RSDSYLAEHQRVYTGEKPYKCNKCG	7.0	6.0	-	-	4189_19:53453689-53453689 G>A_RSDSYLAEHQRVYTGEKPYKCNKCG
9:79936416-79936416 G>A	1.0	4189	MELANOMA	-	-	-	-	VPS13A	ENST00000360280,p.E1862K|uc004akq.4,p.E1862K|NM_001018038,p.E1862K|uc004akt.3,p.E202K|ENST00000376634,p.E1862K|uc004aks.3,p.E1823K|uc004akr.3,p.E1862K|uc004akp.4,p.E1862K|ENST00000376636,p.E1823K|NM_001018037,p.E1823K|NM_015186,p.E1862K|ENST00000357409,p.E1862K|NM_033305,p.E1862K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004akt.3	nonsynonymous SNV	exon4	c.G604A	p.E202K	LVMLNNLVKAFTEAATGSSADFVKD	LVMLNNLVKAFTKAATGSSADFVKD	9.0	4.0	-	-	4189_9:79936416-79936416 G>A_LVMLNNLVKAFTKAATGSSADFVKD
2:179595741-179595741 G>A	0.0	4189	MELANOMA	-	-	-	-	TTN	uc031rqc.1,p.S5884F|ENST00000589042,p.S5884F|ENST00000591111,p.S5567F|ENST00000342992,p.S4640F|NM_001267550,p.S5884F|NM_133378,p.S4640F|uc021vsy.2,p.S4640F|uc031rqd.1,p.S5567F|uc002umz.1,p.S1301F|NM_001256850,p.S5567F	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon58	c.C16700T	p.S5567F	SVTDTVSILKIISTEKKDSGEYTFE	SVTDTVSILKIIFTEKKDSGEYTFE	7.0	6.0	unscreened	-	4189_2:179595741-179595741 G>A_SVTDTVSILKIIFTEKKDSGEYTFE
4:73957853-73957853 G>A	1.0	4189	MELANOMA	-	-	-	-	ANKRD17	uc003hgr.3,p.S1830F|ENST00000330838,p.S1580F|uc003hgp.3,p.S1831F|uc003hgq.3,p.S1580F|NM_001286771,p.S1718F|ENST00000509867,p.S1718F|NM_032217,p.S1831F|NM_198889,p.S1580F|ENST00000358602,p.S1831F|uc003hgo.3,p.S1718F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003hgr.3	nonsynonymous SNV	exon29	c.C5489T	p.S1830F	GSSAPTTTAANTSLMGIKMTTVALS	GSSAPTTTAANTFLMGIKMTTVALS	10.0	1.0	-	-	4189_4:73957853-73957853 G>A_GSSAPTTTAANTFLMGIKMTTVALS
19:49490504-49490504 C>T	1.0	4189	MELANOMA	-	-	-	-	GYS1	NM_002103,p.E147K|ENST00000323798,p.E147K|ENST00000541188,p.E67K|uc002plp.3,p.E147K|ENST00000540532,p.E67K|uc010xzz.2,p.E67K	retained_intron, protein_coding, processed_transcript	uc010xzz.2	nonsynonymous SNV	exon2	c.G199A	p.E67K	DTCNIGVPWYDREANDAVLFGFLTT	DTCNIGVPWYDRKANDAVLFGFLTT	9.0	7.0	-	-	4189_19:49490504-49490504 C>T_DTCNIGVPWYDRKANDAVLFGFLTT
5:139931628-139931628 ->GTC	1.0	4189	MELANOMA	-	-	ID=COSM1192026;OCCURENCE=1(central_nervous_system)	-	SRA1	NM_001035235,p.V110delinsGL|uc010jfm.3,p.V36delinsGL|uc003lfz.3,p.V36delinsGL|uc003lga.3,p.V110delinsGL|ENST00000336283,p.V110delinsGL	retained_intron, protein_coding	uc010jfm.3	nonframeshift insertion	exon3	c.106_107insGAC	p.V36delinsGL	VEPTSFPVESEAVMEDVLRPLEQAL	VEPTSFPVESEAGLMEDVLRPLEQA	7.0	10.0	unscreened	-	4189_5:139931628-139931628 ->GTC_VEPTSFPVESEAGLMEDVLRPLEQA
6:31616485-31616485 C>T	1.0	4189	MELANOMA	-	-	-	-	BAG6	ENST00000375964,p.R174K|NM_004639,p.R174K|uc003nvg.4,p.R174K	retained_intron, protein_coding, processed_transcript	uc003nvg.4	nonsynonymous SNV	exon6	c.G521A	p.R174K	PRVRLVMAQHMIRDIQTLLSRMETL	PRVRLVMAQHMIKDIQTLLSRMETL	10.0	5.0	-	-	4189_6:31616485-31616485 C>T_PRVRLVMAQHMIKDIQTLLSRMETL
7:128852146-128852146 G>A	1.0	4189	MELANOMA	-	-	-	1	SMO	ENST00000249373,p.E740K|uc003vor.3,p.E740K|NM_005631,p.E740K	retained_intron, protein_coding, nonsense_mediated_decay	uc003vor.3	nonsynonymous SNV	exon12	c.G2218A	p.E740K	GAWTLVSNPFCPEPSPPQDPFLPSA	GAWTLVSNPFCPKPSPPQDPFLPSA	5.0	8.0	-	-	4189_7:128852146-128852146 G>A_GAWTLVSNPFCPKPSPPQDPFLPSA
6:31616485-31616485 C>T	1.0	4189	MELANOMA	-	-	-	-	BAG6	ENST00000456286,p.R174K|ENST00000433828,p.R174K|ENST00000424480,p.R174K|ENST00000437771,p.R174K|uc011dnw.2,p.R174K|uc003nvh.4,p.R174K|ENST00000424176,p.R156K|ENST00000404765,p.R174K|uc003nvf.4,p.R174K|ENST00000435080,p.R174K|NM_080703,p.R174K|ENST00000441054,p.R156K|NM_001098534,p.R174K|ENST00000211379,p.R174K|ENST00000439687,p.R174K|uc003nvi.4,p.R174K|ENST00000451898,p.R156K|ENST00000434444,p.R156K|ENST00000456622,p.R156K|NM_080702,p.R174K|ENST00000362049,p.R174K|ENST00000375976,p.R174K|ENST00000452994,p.R174K|NM_001199698,p.R174K|ENST00000428326,p.R174K|NM_001199697,p.R174K|uc011dnx.2,p.R174K	retained_intron, protein_coding, processed_transcript	uc011dnx.2	nonsynonymous SNV	exon6	c.G521A	p.R174K	PRVRLVMAQHMIRDIQTLLSRMECR	PRVRLVMAQHMIKDIQTLLSRMECR	10.0	5.0	-	-	4189_6:31616485-31616485 C>T_PRVRLVMAQHMIKDIQTLLSRMECR
X:152770240-152770240 G>A	0.0	4189	MELANOMA	-	-	-	-	BGN	NM_001711,p.D51N|ENST00000431891,p.D51N|ENST00000331595,p.D51N|uc004fhr.2,p.D51N	protein_coding, processed_transcript	uc004fhr.2	nonsynonymous SNV	exon2	c.G151A	p.D51N	EEASGADTSGVLDPDSVTPTYSAMC	EEASGADTSGVLNPDSVTPTYSAMC	10.0	10.0	-	-	4189_X:152770240-152770240 G>A_EEASGADTSGVLNPDSVTPTYSAMC
10:94228663-94228663 G>A	1.0	4189	MELANOMA	-	-	-	-	IDE	uc001kia.3,p.R765W|ENST00000371581,p.R210W|uc010qnp.2,p.R210W|ENST00000265986,p.R765W|NM_001165946,p.R210W|NM_004969,p.R765W|uc001khz.3,p.R210W	protein_coding, processed_transcript	uc010qnp.2	nonsynonymous SNV	exon9	c.C628T	p.R210W	AHTKPLLPSQLVRYREVQLPDRGWF	AHTKPLLPSQLVWYREVQLPDRGWF	8.0	6.0	-	-	4189_10:94228663-94228663 G>A_AHTKPLLPSQLVWYREVQLPDRGWF
17:65907511-65907511 T>A	1.0	4189	MELANOMA	-	-	-	-	BPTF	uc002jge.3,p.S1297T|ENST00000544778,p.S1234T|ENST00000424123,p.S1158T|uc002jgf.3,p.S1171T|NM_004459,p.S1297T|ENST00000335221,p.S1297T|ENST00000321892,p.S1297T|ENST00000306378,p.S1171T|NM_182641,p.S1171T	retained_intron, protein_coding, processed_transcript	uc002jgf.3	nonsynonymous SNV	exon11	c.T3511A	p.S1171T	KLYPKDRVLDDVSIRSPETKCPKQN	KLYPKDRVLDDVTIRSPETKCPKQN	10.0	1.0	-	-	4189_17:65907511-65907511 T>A_KLYPKDRVLDDVTIRSPETKCPKQN
2:86360313-86360313 C>A	1.0	4189	MELANOMA	-	-	-	-	PTCD3	uc002sqw.2,p.F462L|uc002sqx.1,p.F52L|ENST00000254630,p.F462L|NM_017952,p.F462L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002sqx.1	nonsynonymous SNV	exon8	c.C156A	p.F52L	PDQHRNFYYSKFFDLICLMEQIDVT	PDQHRNFYYSKFLDLICLMEQIDVT	10.0	7.0	-	-	4189_2:86360313-86360313 C>A_PDQHRNFYYSKFLDLICLMEQIDVT
3:183906916-183906916 C>T	1.0	4189	MELANOMA	0.0005	-	-	-	ABCF3	uc003fnb.2,p.R21W|uc003fmz.2,p.R340W|ENST00000292808,p.R334W|NM_018358,p.R340W|ENST00000429586,p.R340W|uc003fna.2,p.R334W	retained_intron, protein_coding, nonsense_mediated_decay	uc003fnb.2	nonsynonymous SNV	exon3	c.C61T	p.R21W	FSGGWRMRLALARALFARPDLLLLD	FSGGWRMRLALAWALFARPDLLLLD	9.0	9.0	-	-	4189_3:183906916-183906916 C>T_FSGGWRMRLALAWALFARPDLLLLD
5:52367856-52367856 C>T	1.0	4189	MELANOMA	-	-	-	-	ITGA2	ENST00000296585,p.S775F|uc003joy.3,p.S775F|NM_002203,p.S775F|uc011cqc.2,p.S699F|ENST00000510722,p.S775F|ENST00000509814,p.S775F	protein_coding, nonsense_mediated_decay	uc011cqc.2	nonsynonymous SNV	exon17	c.C2096T	p.S699F	ENPGTSPALEAYSETAKVFSIPFHK	ENPGTSPALEAYFETAKVFSIPFHK	7.0	10.0	-	-	4189_5:52367856-52367856 C>T_ENPGTSPALEAYFETAKVFSIPFHK
12:7177845-7177845 G>A	1.0	4189	MELANOMA	-	-	-	-	C1S	uc001qsk.3,p.V653M|NM_001734,p.V653M|NM_201442,p.V653M|uc009zfr.3,p.V486M|ENST00000402681,p.V486M|ENST00000328916,p.V653M|ENST00000360817,p.V653M|ENST00000406697,p.V653M|uc001qsj.3,p.V653M|uc001qsl.3,p.V653M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zfr.3	nonsynonymous SNV	exon11	c.G1456A	p.V486M	PNDKTKFYAAGLVSWGPQCGTYGLY	PNDKTKFYAAGLMSWGPQCGTYGLY	10.0	4.0	-	-	4189_12:7177845-7177845 G>A_PNDKTKFYAAGLMSWGPQCGTYGLY
22:19349257-19349257 G>A	1.0	4189	MELANOMA	-	-	-	-	HIRA	ENST00000546308,p.S614F|uc010gro.2,p.S614F|uc011agx.1,p.S524F|uc002zpf.1,p.S658F|NM_003325,p.S658F|ENST00000541063,p.S614F|ENST00000263208,p.S658F	protein_coding, processed_transcript, nonsense_mediated_decay	uc011agx.1	nonsynonymous SNV	exon18	c.C1571T	p.S524F	PRKDSRLMPVSLSVQSPAALTAEKE	PRKDSRLMPVSLFVQSPAALTAEKE	8.0	1.0	-	-	4189_22:19349257-19349257 G>A_PRKDSRLMPVSLFVQSPAALTAEKE
19:19760588-19760588 G>A	1.0	4189	MELANOMA	-	-	-	-	ATP13A1	uc002nnf.4,p.H201Y|NM_020410,p.H833Y|ENST00000291503,p.H715Y|ENST00000357324,p.H833Y|uc002nng.3,p.H715Y|uc002nnh.4,p.H833Y	retained_intron, protein_coding, processed_transcript	uc002nnh.4	nonsynonymous SNV	exon18	c.C2497T	p.H833Y	ATDPQQLLRLIPHVQVFARVAPKQK	ATDPQQLLRLIPYVQVFARVAPKQK	8.0	8.0	-	-	4189_19:19760588-19760588 G>A_ATDPQQLLRLIPYVQVFARVAPKQK
22:30057255-30057255 C>T	1.0	4189	MELANOMA	-	-	ID=COSM419603;OCCURENCE=1(urinary_tract)	1	NF2	NM_181830,p.P163L|ENST00000403435,p.P246L|uc003agf.4,p.P246L|ENST00000353887,p.P163L|ENST00000403999,p.P246L|ENST00000347330,p.P87L|uc003agi.4,p.P163L|ENST00000397789,p.P246L|ENST00000361166,p.P246L|NM_181831,p.P163L|ENST00000334961,p.P163L|NM_181829,p.P205L|uc003afy.4,p.P246L|uc003age.4,p.P246L|uc003agb.4,p.P169L|ENST00000338641,p.P246L|ENST00000361452,p.P205L|NM_181825,p.P246L|NM_181832,p.P246L|uc003agh.4,p.P205L|ENST00000432151,p.P87L|uc003agg.4,p.P246L|NM_181828,p.P204L|uc003agc.4,p.P208L|ENST00000361676,p.P204L|NM_016418,p.P246L|uc003afz.4,p.P163L|uc003aga.4,p.P204L|NM_000268,p.P246L	protein_coding, nonsense_mediated_decay	uc003agi.4	nonsynonymous SNV	exon6	c.C488T	p.P163L	LGVDALGLHIYDPENRLTPKISFPW	LGVDALGLHIYDLENRLTPKISFPW	9.0	1.0	-	-	4189_22:30057255-30057255 C>T_LGVDALGLHIYDLENRLTPKISFPW
17:2600165-2600165 G>A	1.0	4189	MELANOMA	-	-	-	-	CLUH	NM_015229,p.S640F|uc002fux.1,p.S572F|ENST00000575014,p.S572F|ENST00000574426,p.S678F|ENST00000570628,p.S640F|uc002fuy.1,p.S640F|ENST00000435359,p.S640F|ENST00000538975,p.S640F	retained_intron, protein_coding, nonsense_mediated_decay	uc002fuy.1	nonsynonymous SNV	exon11	c.C1919T	p.S640F	LMQQNASQLETPSSLENGGPSSLES	LMQQNASQLETPFSLENGGPSSLES	8.0	9.0	-	-	4189_17:2600165-2600165 G>A_LMQQNASQLETPFSLENGGPSSLES
19:35836518-35836518 C>T	1.0	4189	MELANOMA	-	-	-	-	CD22	ENST00000419549,p.P569L|NM_001771,p.P741L|NM_001185101,p.P564L|ENST00000536635,p.P653L|ENST00000341773,p.P564L|uc002nzb.4,p.P564L|uc010xst.2,p.P569L|uc010edt.3,p.P741L|NM_001185099,p.P653L|uc010edu.3,p.P653L|ENST00000594250,p.P564L|NM_001278417,p.P569L|ENST00000085219,p.P741L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xst.2	nonsynonymous SNV	exon12	c.C1706T	p.P569L	SFFVRNKKVRRAPLSEGPHSLGCYN	SFFVRNKKVRRALLSEGPHSLGCYN	7.0	6.0	-	-	4189_19:35836518-35836518 C>T_SFFVRNKKVRRALLSEGPHSLGCYN
8:30989898-30989898 C>T	1.0	4189	MELANOMA	-	-	-	1	WRN	NM_000553,p.S948F|ENST00000298139,p.S948F|uc003xio.4,p.S948F|uc010lvk.3,p.S415F	retained_intron, protein_coding	uc010lvk.3	nonsynonymous SNV	exon12	c.C1244T	p.S415F	CDNCRSRLDHCYSMDDSEDTSWDFG	CDNCRSRLDHCYFMDDSEDTSWDFG	7.0	1.0	-	-	4189_8:30989898-30989898 C>T_CDNCRSRLDHCYFMDDSEDTSWDFG
1:154247682-154247682 G>A	1.0	4189	MELANOMA	-	-	-	-	HAX1	ENST00000447768,p.S182N	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000447768	nonsynonymous SNV	exon5	c.G545A	p.S182N	FPRRVLARFYSPSPNPISRASL	FPRRVLARFYSPNPNPISRASL	10.0	9.0	-	-	4189_1:154247682-154247682 G>A_FPRRVLARFYSPNPNPISRASL
11:62299341-62299341 G>A	1.0	4189	MELANOMA	-	-	-	-	AHNAK	NM_001620,p.P850S|uc001ntl.3,p.P850S|ENST00000378024,p.P850S	protein_coding, processed_transcript	uc001ntl.3	nonsynonymous SNV	exon5	c.C2548T	p.P850S	VTMPKVESEIKVPDVELKSAKMDID	VTMPKVESEIKVSDVELKSAKMDID	10.0	9.0	-	-	4189_11:62299341-62299341 G>A_VTMPKVESEIKVSDVELKSAKMDID
7:103841329-103841329 A>C	1.0	4189	MELANOMA	-	-	-	-	ORC5	ENST00000447452,p.N81K|NM_181747,p.N81K|ENST00000297431,p.N81K|uc003vcc.3,p.N81K|uc003vcb.3,p.N81K|NM_002553,p.N81K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vcc.3	nonsynonymous SNV	exon3	c.T243G	p.N81K	LRLLLEQILNKLNHLSSSEDGCSTE	LRLLLEQILNKLKHLSSSEDGCSTE	7.0	6.0	-	-	4189_7:103841329-103841329 A>C_LRLLLEQILNKLKHLSSSEDGCSTE
16:31213021-31213021 T>G	1.0	4189	MELANOMA	-	-	-	-	PYCARD	ENST00000247470,p.K158T|NM_145182,p.K139T|NM_013258,p.K158T|ENST00000350605,p.K139T|uc002ebm.3,p.K139T|uc010cak.3,p.K158T	retained_intron, protein_coding	uc010cak.3	nonsynonymous SNV	exon3	c.A473C	p.K158T	YQAVRAEPTNPSKMRKLFSFTPAWN	YQAVRAEPTNPSTMRKLFSFTPAWN	8.0	6.0	-	-	4189_16:31213021-31213021 T>G_YQAVRAEPTNPSTMRKLFSFTPAWN
12:112891108-112891108 G>A	1.0	4189	MELANOMA	-	-	-	1	PTPN11	NM_002834,p.V148I|NM_080601,p.V148I|uc001ttw.1,p.V148I|ENST00000392597,p.V148I|ENST00000351677,p.V148I|uc001ttx.3,p.V148I	protein_coding, processed_transcript	uc001ttx.3	nonsynonymous SNV	exon4	c.G442A	p.V148I	LVRESQSHPGDFVLSVRTGDDKGES	LVRESQSHPGDFILSVRTGDDKGES	10.0	5.0	-	-	4189_12:112891108-112891108 G>A_LVRESQSHPGDFILSVRTGDDKGES
4:40947015-40947015 G>A	1.0	4189	MELANOMA	-	-	-	-	APBB2	NM_004307,p.A304V|ENST00000295974,p.A303V|ENST00000506352,p.A303V|NM_001166050,p.A303V|uc003gvm.3,p.A303V|NM_173075,p.A303V|ENST00000513140,p.A303V|ENST00000508593,p.A304V|uc011byt.1,p.A286V|uc003gvn.3,p.A304V|uc003gvl.3,p.A303V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011byt.1	nonsynonymous SNV	exon2	c.C857T	p.A286V	DLPPGWKRVSDIAGTYYWHIPTGTT	DLPPGWKRVSDIVGTYYWHIPTGTT	8.0	5.0	-	-	4189_4:40947015-40947015 G>A_DLPPGWKRVSDIVGTYYWHIPTGTT
13:49742823-49742823 C>T	1.0	4189	MELANOMA	-	-	-	-	FNDC3A	ENST00000541916,p.P371L|NM_014923,p.P315L|NM_001278438,p.P371L|NM_001079673,p.P371L|ENST00000492622,p.P371L|uc001vcn.3,p.P371L|ENST00000398316,p.P315L|uc001vcp.1,p.P315L|ENST00000484074,p.P371L|uc001vcq.3,p.P315L|uc001vcm.3,p.P371L	retained_intron, protein_coding, nonsense_mediated_decay	uc001vcq.3	nonsynonymous SNV	exon8	c.C944T	p.P315L	SEAEIFTTLSCEPDIPNPPRIANRT	SEAEIFTTLSCELDIPNPPRIANRT	10.0	9.0	-	-	4189_13:49742823-49742823 C>T_SEAEIFTTLSCELDIPNPPRIANRT
1:40098352-40098352 G>C	1.0	4189	MELANOMA	-	-	-	-	HEYL	ENST00000372852,p.S39W	protein_coding	ENST00000372852	nonsynonymous SNV	exon2	c.C116G	p.S39W	SQMARPLSTPSSSQMQARKKHRGII	SQMARPLSTPSSWQMQARKKHRGII	5.0	8.0	-	-	4189_1:40098352-40098352 G>C_SQMARPLSTPSSWQMQARKKHRGII
1:228563429-228563429 G>C	0.0	4189	MELANOMA	-	-	-	-	OBSCN	uc001hsr.1,p.D2193H|ENST00000422127,p.D7564H|ENST00000366707,p.D5198H|ENST00000570156,p.D8521H|uc001hsq.2,p.D8521H|uc009xez.2,p.D7564H|NM_001098623,p.D7564H|NM_001271223,p.D8521H	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon98	c.G22690C	p.D7564H	RKAERPSSSPCPDIGEVYADGVLLV	RKAERPSSSPCPHIGEVYADGVLLV	8.0	9.0	-	-	4189_1:228563429-228563429 G>C_RKAERPSSSPCPHIGEVYADGVLLV
16:67424869-67424869 G>A	1.0	4189	MELANOMA	-	-	-	-	TPPP3	NM_015964,p.S49F|ENST00000393957,p.S49F|NM_016140,p.S49F|uc002etb.3,p.S49F|uc002esz.3,p.S49F|ENST00000290942,p.S49F|ENST00000564104,p.S49F|ENST00000562206,p.S49F|uc002eta.3,p.S49F	retained_intron, protein_coding	uc002etb.3	nonsynonymous SNV	exon2	c.C146T	p.S49F	KLCKDCKVADGKSVTGTDVDIVFSK	KLCKDCKVADGKFVTGTDVDIVFSK	6.0	7.0	-	-	4189_16:67424869-67424869 G>A_KLCKDCKVADGKFVTGTDVDIVFSK
9:123169466-123169466 A>-	1.0	4189	MELANOMA	-	-	-	-	CDK5RAP2	uc011lxw.3,p.M861fs|uc004bkh.2,p.M1366fs|uc011lxz.3,p.M861fs|uc004bkf.4,p.M1596fs|ENST00000425647,p.M606fs|ENST00000359309,p.M1555fs|uc004bke.3,p.M881fs|ENST00000416449,p.M990fs|ENST00000349780,p.M1596fs|uc011lya.3,p.M861fs|NM_001272039,p.M1366fs|NM_018249,p.M1596fs|ENST00000360822,p.M1564fs|uc010mvi.3,p.M605fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lya.3	frameshift deletion	exon32	c.2582delT	p.M861fs	GQDPFRDLHSLLMEIQALRLQLERS	GQDPFRDLHSLLRRSRLCACN	10.0	3.0	-	-	4189_9:123169466-123169466 A>-_GQDPFRDLHSLLRRSRLCACN
22:30057254-30057254 C>T	1.0	4189	MELANOMA	-	-	-	1	NF2	uc003afy.4,p.P246S|ENST00000361166,p.P246S|ENST00000334961,p.P163S|NM_181830,p.P163S|ENST00000432151,p.P87S|uc003agb.4,p.P169S|uc003afz.4,p.P163S|NM_016418,p.P246S|ENST00000403999,p.P246S|ENST00000361676,p.P204S|uc003agh.4,p.P205S|uc003age.4,p.P246S|ENST00000397789,p.P246S|NM_181829,p.P205S|ENST00000403435,p.P246S|uc003aga.4,p.P204S|NM_181832,p.P246S|uc003agf.4,p.P246S|ENST00000338641,p.P246S|ENST00000347330,p.P87S|uc003agc.4,p.P208S|ENST00000353887,p.P163S|NM_181825,p.P246S|NM_181828,p.P204S|NM_000268,p.P246S|uc003agg.4,p.P246S|NM_181831,p.P163S|uc003agi.4,p.P163S|ENST00000361452,p.P205S	protein_coding, nonsense_mediated_decay	uc003agi.4	nonsynonymous SNV	exon6	c.C487T	p.P163S	LGVDALGLHIYDPENRLTPKISFPW	LGVDALGLHIYDSENRLTPKISFPW	9.0	1.0	-	-	4189_22:30057254-30057254 C>T_LGVDALGLHIYDSENRLTPKISFPW
11:102401365-102401365 C>T	0.0	4189	MELANOMA	-	-	-	-	MMP7	uc009yxd.3,p.E23K|ENST00000260227,p.E23K|uc001phb.3,p.E23K|uc010rus.1,p.E23K|NM_002423,p.E23K	retained_intron, protein_coding	uc010rus.1	nonsynonymous SNV	exon1	c.G67A	p.E23K	LLPGSLALPLPQEAGGMSELQWEQA	LLPGSLALPLPQKAGGMSELQWEQA	6.0	9.0	-	-	4189_11:102401365-102401365 C>T_LLPGSLALPLPQKAGGMSELQWEQA
20:44528512-44528512 C>T	1.0	4189	MELANOMA	-	-	-	-	PLTP	ENST00000542937,p.R414Q|ENST00000477313,p.R394Q|NM_182676,p.R342Q|ENST00000354050,p.R342Q|ENST00000420868,p.R299Q|NM_001242920,p.R299Q|uc002xqn.2,p.R394Q|uc002xqq.2,p.R363Q|uc002xql.2,p.R306Q|ENST00000372431,p.R394Q|NM_006227,p.R394Q|uc010zxj.2,p.R299Q|uc002xqm.2,p.R414Q|ENST00000372420,p.R306Q|NM_001242921,p.R306Q|uc002xqo.2,p.R342Q	protein_coding	uc010zxj.2	nonsynonymous SNV	exon11	c.G896A	p.R299Q	KALRTQLDLRRFRIYSNHSALESLA	KALRTQLDLRRFQIYSNHSALESLA	10.0	2.0	-	-	4189_20:44528512-44528512 C>T_KALRTQLDLRRFQIYSNHSALESLA
6:30573930-30573930 G>A	1.0	4189	MELANOMA	-	-	-	-	PPP1R10	NM_002714,p.P242L|uc003nqn.2,p.P242L|ENST00000376511,p.P242L	retained_intron, protein_coding, processed_transcript	uc003nqn.2	nonsynonymous SNV	exon9	c.C725T	p.P242L	VVVSDKYNLKPIPLKRQSNVAAPGD	VVVSDKYNLKPILLKRQSNVAAPGD	10.0	5.0	-	-	4189_6:30573930-30573930 G>A_VVVSDKYNLKPILLKRQSNVAAPGD
19:32973046-32973046 G>T	1.0	4189	MELANOMA	-	-	-	-	DPY19L3	uc002ntj.2,p.C106F|ENST00000392250,p.C684F|uc002nth.2,p.C684F|ENST00000342179,p.C684F|NM_001172774,p.C684F|uc002ntg.3,p.C684F|NM_207325,p.C684F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, lincRNA	uc002ntj.2	nonsynonymous SNV	exon3	c.G317T	p.C106F	DPDLKPADHPRFCEEIKRNLPPYVA	DPDLKPADHPRFFEEIKRNLPPYVA	8.0	6.0	-	-	4189_19:32973046-32973046 G>T_DPDLKPADHPRFFEEIKRNLPPYVA
6:26124123-26124123 G>C	1.0	4189	MELANOMA	-	-	-	-	HIST1H2BC	ENST00000396984,p.P4A|NM_003526,p.P4A|uc003ngl.3,p.P4A|ENST00000314332,p.P4A|uc003ngk.4,p.P4A	protein_coding	uc003ngl.3	nonsynonymous SNV	exon1	c.C10G	p.P4A	MPEPAKSAPAPKKGSK	MPEAAKSAPAPKKGSK	10.0	6.0	-	-	4189_6:26124123-26124123 G>C_MPEAAKSAPAPKKGSK
17:42541886-42541886 C>G	1.0	4189	MELANOMA	-	-	-	-	GPATCH8	ENST00000585614,p.Q24H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000585614	nonsynonymous SNV	exon2	c.G72C	p.Q24H	RDFQDNIGHRLLQKHGWKLGQGLGK	RDFQDNIGHRLLHKHGWKLGQGLGK	8.0	7.0	-	-	4189_17:42541886-42541886 C>G_RDFQDNIGHRLLHKHGWKLGQGLGK
17:42541886-42541886 C>G	1.0	4189	MELANOMA	-	-	-	-	GPATCH8	ENST00000591680,p.Q49H|NM_001002909,p.Q49H|uc002igw.2,p.Q49H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002igw.2	nonsynonymous SNV	exon3	c.G147C	p.Q49H	PIESDNIGHRLLQKHGWKLGQGLGK	PIESDNIGHRLLHKHGWKLGQGLGK	8.0	7.0	-	-	4189_17:42541886-42541886 C>G_PIESDNIGHRLLHKHGWKLGQGLGK
2:170013914-170013914 C>T	1.0	4189	MELANOMA	-	-	ID=COSM1009169;OCCURENCE=1(endometrium)	-	LRP2	uc002ues.3,p.E3996K|NM_004525,p.E3996K|ENST00000263816,p.E3996K	retained_intron, protein_coding, processed_transcript	uc002ues.3	nonsynonymous SNV	exon64	c.G11986A	p.E3996K	EGGFICSCTAGFETNVFDRTSCLDI	EGGFICSCTAGFKTNVFDRTSCLDI	7.0	5.0	-	-	4189_2:170013914-170013914 C>T_EGGFICSCTAGFKTNVFDRTSCLDI
7:20738148-20738148 C>T	0.0	4189	MELANOMA	-	-	-	-	ABCB5	NM_001163941,p.S710F|ENST00000404938,p.S710F|uc010kuh.3,p.S710F|ENST00000258738,p.S265F|NM_178559,p.S265F|uc003suw.4,p.S265F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010kuh.3	nonsynonymous SNV	exon17	c.C2129T	p.S710F	ASVLNGTVHPVFSIIFAKIITMFGN	ASVLNGTVHPVFFIIFAKIITMFGN	6.0	3.0	-	-	4189_7:20738148-20738148 C>T_ASVLNGTVHPVFFIIFAKIITMFGN
17:78858811-78858811 C>T	1.0	4189	MELANOMA	-	-	-	-	RPTOR	NM_020761,p.R616C|ENST00000306801,p.R616C|uc002jyt.1,p.R616C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jyt.1	nonsynonymous SNV	exon17	c.C1846T	p.R616C	LYSLLSDPIPEVRCAAVFALGTFVG	LYSLLSDPIPEVCCAAVFALGTFVG	8.0	9.0	-	-	4189_17:78858811-78858811 C>T_LYSLLSDPIPEVCCAAVFALGTFVG
2:233620961-233620961 ->TGCT	1.0	4189	MELANOMA	-	-	-	-	GIGYF2	ENST00000440945,p.A99fs|ENST00000409547,p.A99fs|ENST00000409480,p.A99fs|ENST00000409451,p.A99fs|uc002vtg.2,p.A99fs|uc002vtj.4,p.A99fs|ENST00000423659,p.A99fs|ENST00000373563,p.A99fs|uc002vti.4,p.A99fs|ENST00000373566,p.A99fs|uc010zmj.1,p.A99fs|uc002vtk.4,p.A99fs|ENST00000409196,p.A99fs|NM_001103146,p.A99fs|NM_001103148,p.A99fs|uc002vth.4,p.A99fs|NM_001103147,p.A99fs|NM_015575,p.A99fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zmj.1	frameshift insertion	exon7	c.296_297insTGCT	p.A99fs	EEQRNFSMSVNSAAVLRLTGRGGGG	EEQRNFSMSVNSAACCPAIDRTRRRRNSGGGS	10.0	7.0	-	-	4189_2:233620961-233620961 ->TGCT_EEQRNFSMSVNSAACCPAIDRTRRRRNSGGGS
2:86709659-86709659 G>A	1.0	4189	MELANOMA	-	-	-	-	KDM3A	NM_001146688,p.D922N|ENST00000409064,p.D922N|uc002sri.4,p.D922N|ENST00000409556,p.D922N|uc010ytk.2,p.D870N|ENST00000312912,p.D922N|NM_018433,p.D922N|ENST00000542128,p.D870N|uc010ytj.2,p.D922N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ytk.2	nonsynonymous SNV	exon16	c.G2608A	p.D870N	IFASLVQNKTTSDLSKRPQGLTIKP	IFASLVQNKTTSNLSKRPQGLTIKP	8.0	6.0	-	-	4189_2:86709659-86709659 G>A_IFASLVQNKTTSNLSKRPQGLTIKP
2:168099206-168099206 C>T	1.0	4189	MELANOMA	-	-	-	-	XIRP2	ENST00000409195,p.S435F|NM_152381,p.S435F|uc010fpq.3,p.S213F|uc002udy.3,p.S260F|ENST00000295237,p.S435F|ENST00000409273,p.S213F|NM_001199144,p.S213F|uc002udx.3,p.S435F	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.C638T	p.S213F	TSTTRYSDHSVTSSTLAQINATSSG	TSTTRYSDHSVTFSTLAQINATSSG	2.0	1.0	unscreened	-	4189_2:168099206-168099206 C>T_TSTTRYSDHSVTFSTLAQINATSSG
10:122666340-122666340 G>A	1.0	4189	MELANOMA	-	-	-	-	WDR11	uc021pzt.1,p.G1164R|NM_018117,p.G1164R|ENST00000263461,p.G1164R	protein_coding, processed_transcript	uc021pzt.1	nonsynonymous SNV	exon28	c.G3490A	p.G1164R	RAALFVEACLKYGAFEVTEDTEKLI	RAALFVEACLKYRAFEVTEDTEKLI	8.0	8.0	-	-	4189_10:122666340-122666340 G>A_RAALFVEACLKYRAFEVTEDTEKLI
20:17474766-17474766 C>T	1.0	4189	MELANOMA	-	-	-	-	BFSP1	NM_001278606,p.G512R|ENST00000536626,p.G512R|uc002wpo.3,p.G651R|uc010zrn.2,p.G512R|ENST00000544874,p.G512R|uc010zro.2,p.G512R|uc002wpp.3,p.G526R|NM_001195,p.G651R|ENST00000377868,p.G526R|ENST00000377873,p.G651R|NM_001161705,p.G526R|NM_001278608,p.G512R|NM_001278607,p.G540R	protein_coding, processed_transcript	uc010zro.2	nonsynonymous SNV	exon10	c.G1534A	p.G512R	YEETAVIVETMIGKTKSDKKKSGEK	YEETAVIVETMIRKTKSDKKKSGEK	3.0	6.0	-	-	4189_20:17474766-17474766 C>T_YEETAVIVETMIRKTKSDKKKSGEK
1:40098352-40098352 G>C	1.0	4189	MELANOMA	-	-	-	-	HEYL	uc001cdp.3,p.S39W|NM_014571,p.S39W	protein_coding	uc001cdp.3	nonsynonymous SNV	exon2	c.C116G	p.S39W	SQMARPLSTPSSSQMQARKKRRGII	SQMARPLSTPSSWQMQARKKRRGII	5.0	8.0	-	-	4189_1:40098352-40098352 G>C_SQMARPLSTPSSWQMQARKKRRGII
6:564892-564892 T>C	1.0	4189	MELANOMA	-	-	-	-	EXOC2	ENST00000230449,p.N494S|ENST00000448181,p.N89S|uc003mte.4,p.N494S|uc011dho.3,p.N89S|uc003mtd.4,p.N494S|NM_018303,p.N494S	protein_coding, processed_transcript	uc011dho.3	nonsynonymous SNV	exon4	c.A266G	p.N89S	TAEKSGQIERSKNVRQRQNDFKKMI	TAEKSGQIERSKSVRQRQNDFKKMI	8.0	2.0	-	-	4189_6:564892-564892 T>C_TAEKSGQIERSKSVRQRQNDFKKMI
5:156635978-156635978 C>T	0.0	4189	MELANOMA	-	-	-	1	ITK	NM_005546,p.P73S|uc003lwo.1,p.P73S|ENST00000517779,p.P73S|ENST00000422843,p.P73S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003lwo.1	nonsynonymous SNV	exon2	c.C217T	p.P73S	KCVEIVKSDISIPCHYKYPFQVVHD	KCVEIVKSDISISCHYKYPFQVVHD	8.0	10.0	-	-	4189_5:156635978-156635978 C>T_KCVEIVKSDISISCHYKYPFQVVHD
6:30609962-30609962 G>A	1.0	4189	MELANOMA	-	-	-	-	ATAT1	NM_024909,p.R221K|uc003rdc.3,p.R221K|uc003nqr.4,p.R221K|NM_001031722,p.R209K|ENST00000329992,p.R221K|ENST00000330083,p.R209K|ENST00000376483,p.R221K|ENST00000376485,p.R221K|uc003nqv.3,p.R209K	retained_intron, protein_coding, processed_transcript	uc003rdc.3	nonsynonymous SNV	exon9	c.G662A	p.R221K	AAAVDPTPAAPARKLPPKRAEGDIK	AAAVDPTPAAPAKKLPPKRAEGDIK	7.0	4.0	-	-	4189_6:30609962-30609962 G>A_AAAVDPTPAAPAKKLPPKRAEGDIK
1:242042461-242042461 C>A	1.0	4189	MELANOMA	-	-	-	-	EXO1	NM_130398,p.S642Y|NM_003686,p.S642Y|uc009xgq.3,p.S641Y|ENST00000348581,p.S642Y|ENST00000518483,p.S642Y|ENST00000366548,p.S642Y|uc021plj.1,p.S642Y|uc001hzh.3,p.S642Y|NM_006027,p.S642Y|uc021plk.1,p.S642Y	protein_coding, processed_transcript	uc021plk.1	nonsynonymous SNV	exon11	c.C1925A	p.S642Y	LQQFRRKSDSPTSLPENNMSDVSQL	LQQFRRKSDSPTYLPENNMSDVSQL	8.0	1.0	-	-	4189_1:242042461-242042461 C>A_LQQFRRKSDSPTYLPENNMSDVSQL
X:41204458-41204458 C>-, X:41204454-41204455 TG>-	0.0	4189	MELANOMA	-	-	-	1	DDX3X	NM_001193417,p.R335fs|uc011mkq.2,p.R335fs|uc004dff.3,p.R351fs|ENST00000399959,p.R351fs|NM_001356,p.R351fs|uc004dfe.3,p.R351fs|ENST00000457138,p.R335fs|NM_001193416,p.R351fs|uc011mkr.2,p.R351fs	protein_coding, processed_transcript	uc011mkr.2	frameshift deletion	exon11	c.1051delC	p.R351fs	GLDFCKYLVLDEADRMLDMGFEPQI	GLDFCKYLVLDEAWMLDMGFEPQIRR	10.0	10.0	CD8	fs, fs PR	4189_X:41204458-41204458 C>-, X:41204454-41204455 TG>-_GLDFCKYLVLDEAWMLDMGFEPQIRR
22:19434915-19434915 T>C	1.0	4189	MELANOMA	-	-	-	-	C22orf39	NM_001166242,p.N97D|ENST00000399568,p.N60D|uc002zpi.3,p.N97D|ENST00000542103,p.N97D	protein_coding, processed_transcript, nonsense_mediated_decay	uc002zpi.3	nonsynonymous SNV	exon2	c.A289G	p.N97D	DLASCRDWEERRNAEAQVLSVVAHT	DLASCRDWEERRDAEAQVLSVVAHT	8.0	7.0	-	-	4189_22:19434915-19434915 T>C_DLASCRDWEERRDAEAQVLSVVAHT
10:103542050-103542050 G>A	1.0	4189	MELANOMA	-	-	-	-	NPM3	uc001ktt.3,p.S128F|NM_006993,p.S128F|ENST00000370110,p.S128F	protein_coding, processed_transcript	uc001ktt.3	nonsynonymous SNV	exon4	c.C383T	p.S128F	LQPPVTFRLKSGSGPVRITGRHQIV	LQPPVTFRLKSGFGPVRITGRHQIV	6.0	7.0	-	-	4189_10:103542050-103542050 G>A_LQPPVTFRLKSGFGPVRITGRHQIV
1:27480491-27480491 G>A	1.0	4189	MELANOMA	-	-	-	-	SLC9A1	NM_003047,p.A112V|ENST00000263980,p.A112V|ENST00000374086,p.A112V|uc001bnn.3,p.A112V|uc001bnm.4,p.A112V|ENST00000374084,p.A112V	retained_intron, protein_coding, processed_transcript	uc001bnn.3	nonsynonymous SNV	exon1	c.C335T	p.A112V	RTPFEISLWILLACLMKIGFHVIPT	RTPFEISLWILLVCLMKIGFHVIPT	8.0	9.0	-	-	4189_1:27480491-27480491 G>A_RTPFEISLWILLVCLMKIGFHVIPT
1:148582440-148582440 A>G	1.0	4189	MELANOMA	-	rs9438151	-	-	NBPF15	NM_173638,p.K225R|ENST00000442702,p.K225R|uc001esc.2,p.K225R|uc001esb.2,p.K225R|ENST00000369187,p.K225R|NM_001170755,p.K225R	protein_coding, processed_transcript	uc001esc.2	nonsynonymous SNV	exon9	c.A674G	p.K225R	NSHGPYDSNQPHKKTKITFEEDKVD	NSHGPYDSNQPHRKTKITFEEDKVD	10.0	1.0	-	-	4189_1:148582440-148582440 A>G_NSHGPYDSNQPHRKTKITFEEDKVD
6:32164798-32164798 T>G	1.0	4189	MELANOMA	-	-	-	-	NOTCH4	uc003obb.3,p.T1702P|uc011dpt.2,p.T111P|ENST00000443903,p.T111P|NM_004557,p.T1702P|uc003oba.3,p.T362P|uc011dpw.1,p.T111P|ENST00000375023,p.T1702P	retained_intron, protein_coding, processed_transcript	uc011dpw.1	nonsynonymous SNV	exon2	c.A331C	p.T111P	RQTAVDARTEDGTTPLMLAARLAVE	RQTAVDARTEDGPTPLMLAARLAVE	5.0	5.0	-	-	4189_6:32164798-32164798 T>G_RQTAVDARTEDGPTPLMLAARLAVE
20:57428808-57428808 C>T	0.0	4189	MELANOMA	-	-	-	1	GNAS	NM_001077490,p.P101S|ENST00000306120,p.P100S	retained_intron, protein_coding, processed_transcript	NM_001077490	nonsynonymous SNV	exon1	c.C301T	p.P101S	WEDTALHQKKLCPLSLTSLPREAAV	WEDTALHQKKLCSLSLTSLPREAAV	10.0	3.0	-	-	4189_20:57428808-57428808 C>T_WEDTALHQKKLCSLSLTSLPREAAV
22:31007004-31007004 C>T	0.0	4189	MELANOMA	-	-	-	-	TCN2	ENST00000215838,p.L71F|NM_000355,p.L71F|NM_001184726,p.L71F|uc003aip.2,p.L71F|ENST00000405742,p.L71F|ENST00000407817,p.L71F|uc003air.2,p.L71F|ENST00000423350,p.L71F	retained_intron, protein_coding, nonsense_mediated_decay	uc003air.2	nonsynonymous SNV	exon2	c.C211T	p.L71F	RLSSLQAGTKEDLYLHSLKLGYQQC	RLSSLQAGTKEDFYLHSLKLGYQQC	8.0	5.0	-	-	4189_22:31007004-31007004 C>T_RLSSLQAGTKEDFYLHSLKLGYQQC
12:4645316-4645316 A>T	1.0	4189	MELANOMA	-	-	-	-	C12orf4	ENST00000261250,p.F15L|uc001qmt.3,p.F15L|uc001qms.3,p.F15L|NM_020374,p.F15L|ENST00000545746,p.F15L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001qmt.3	nonsynonymous SNV	exon2	c.T45A	p.F15L	KNRERFCNREREFVYKFKVGSQCLE	KNRERFCNRERELVYKFKVGSQCLE	7.0	3.0	-	-	4189_12:4645316-4645316 A>T_KNRERFCNRERELVYKFKVGSQCLE
22:37414289-37414289 A>C	0.0	4189	MELANOMA	-	-	-	-	TST	uc031rxn.1,p.L162R|uc003aqg.4,p.L162R|ENST00000249042,p.L162R|NM_001270483,p.L162R|uc003aqh.4,p.L162R|ENST00000403892,p.L162R|NM_003312,p.L162R	protein_coding	uc031rxn.1	nonsynonymous SNV	exon2	c.T485G	p.L162R	PAVFKATLDRSLLKTYEQVLENLES	PAVFKATLDRSLRKTYEQVLENLES	3.0	6.0	-	-	4189_22:37414289-37414289 A>C_PAVFKATLDRSLRKTYEQVLENLES
20:60889724-60889724 C>T	0.0	4189	MELANOMA	0.0005	-	-	-	LAMA5	uc002ycq.3,p.D2752N|NM_005560,p.D2752N|uc021wfw.1,p.D2752N|ENST00000252999,p.D2752N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wfw.1	nonsynonymous SNV	exon61	c.G8254A	p.D2752N	NGRSGVQLRTPRDLADLAAYTALKF	NGRSGVQLRTPRNLADLAAYTALKF	7.0	7.0	-	-	4189_20:60889724-60889724 C>T_NGRSGVQLRTPRNLADLAAYTALKF
2:101666939-101666939 T>G	0.0	4189	MELANOMA	-	-	-	-	TBC1D8	ENST00000409318,p.T266P|NM_001102426,p.T251P|uc010fiv.3,p.T251P|ENST00000376840,p.T251P|uc010yvw.2,p.T266P	retained_intron, protein_coding, processed_transcript	uc010yvw.2	nonsynonymous SNV	exon5	c.A796C	p.T266P	EVFKVMEQLADVTLRRLLDNEVFDL	EVFKVMEQLADVPLRRLLDNEVFDL	6.0	2.0	-	-	4189_2:101666939-101666939 T>G_EVFKVMEQLADVPLRRLLDNEVFDL
10:115400023-115400023 G>A	0.0	4189	MELANOMA	-	-	-	-	NRAP	ENST00000359988,p.S464F|uc001lak.4,p.S429F|ENST00000360478,p.S429F|NM_198060,p.S464F|uc001laj.4,p.S464F|ENST00000369358,p.S464F|ENST00000369360,p.S429F|uc001lal.4,p.S464F|NM_001261463,p.S464F|NM_006175,p.S429F	protein_coding	uc001lal.4	nonsynonymous SNV	exon14	c.C1391T	p.S464F	IVDYNYPATLTPSYQTAMKLVPLKD	IVDYNYPATLTPFYQTAMKLVPLKD	3.0	7.0	unscreened	-	4189_10:115400023-115400023 G>A_IVDYNYPATLTPFYQTAMKLVPLKD
19:54783224-54783224 C>T	0.0	4189	MELANOMA	-	-	-	-	LILRB2	ENST00000391748,p.D212N|uc002qfc.3,p.D212N|NM_005874,p.D212N|NM_001278405,p.D212N|NM_001278403,p.D212N|uc010yet.2,p.D96N|NM_001278406,p.D212N|NM_001080978,p.D212N|uc002qfb.3,p.D212N|ENST00000434421,p.D96N|ENST00000391746,p.D212N|ENST00000391749,p.D212N|NM_001278404,p.D96N|ENST00000314446,p.D212N|uc010eri.3,p.D212N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yet.2	nonsynonymous SNV	exon4	c.G286A	p.D96N	DLNSPYVWSSPSDLLELLVPGVSKK	DLNSPYVWSSPSNLLELLVPGVSKK	8.0	2.0	-	-	4189_19:54783224-54783224 C>T_DLNSPYVWSSPSNLLELLVPGVSKK
2:97373457-97373457 G>A	1.0	4189	MELANOMA	-	-	-	-	LMAN2L	ENST00000534882,p.P155S|ENST00000426463,p.P166S|uc010yuv.2,p.P153S|NM_001142292,p.P311S|uc010yut.2,p.P166S|uc010yux.2,p.P155S|uc002swv.3,p.P311S|ENST00000377079,p.P311S|uc002swu.3,p.P300S|uc010yuw.2,p.P155S|NM_030805,p.P300S|ENST00000264963,p.P300S|ENST00000537039,p.P162S|uc010yuu.2,p.P164S	retained_intron, protein_coding, nonsense_mediated_decay	uc010yux.2	nonsynonymous SNV	exon6	c.C463T	p.P155S	DVFLPSVDNMKLPEMTAPLPPLSGL	DVFLPSVDNMKLSEMTAPLPPLSGL	6.0	3.0	-	-	4189_2:97373457-97373457 G>A_DVFLPSVDNMKLSEMTAPLPPLSGL
15:65242092-65242092 G>A	1.0	4189	MELANOMA	0.0	-	-	-	ANKDD1A	ENST00000395723,p.R338Q|ENST00000487867,p.R370Q|uc002aoa.3,p.R461Q|NM_182703,p.R461Q|ENST00000380230,p.R461Q|ENST00000357698,p.R429Q|ENST00000395720,p.R461Q|uc010bha.3,p.R338Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bha.3	nonsynonymous SNV	exon10	c.G1013A	p.R338Q	WTGTRSYQEHGHRMLLIWLHGVATA	WTGTRSYQEHGHQMLLIWLHGVATA	5.0	2.0	-	-	4189_15:65242092-65242092 G>A_WTGTRSYQEHGHQMLLIWLHGVATA
1:12819417-12819417 C>T	0.0	4189	MELANOMA	-	-	-	-	C1orf158	uc001auh.3,p.L134F|ENST00000376210,p.L96F|NM_152290,p.L134F|ENST00000288048,p.L134F	protein_coding, processed_transcript	uc001auh.3	nonsynonymous SNV	exon3	c.C400T	p.L134F	LLWLPEKSDFPLLAPPTNYGLYEQL	LLWLPEKSDFPLFAPPTNYGLYEQL	1.0	7.0	unscreened	-	4189_1:12819417-12819417 C>T_LLWLPEKSDFPLFAPPTNYGLYEQL
5:139941760-139941760 G>A	0.0	4189	MELANOMA	-	-	-	-	APBB3	ENST00000509914,p.P184L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000509914	nonsynonymous SNV	exon6	c.C551T	p.P184L	MILKKDAMSLVNPLDHSLIHCQPLA	MILKKDAMSLVNLLDHSLIHCQPLA	6.0	10.0	-	-	4189_5:139941760-139941760 G>A_MILKKDAMSLVNLLDHSLIHCQPLA
5:139941760-139941760 G>A	0.0	4189	MELANOMA	-	-	-	-	APBB3	NM_133172,p.P184L|NM_133173,p.P184L|ENST00000511896,p.P138L|ENST00000412920,p.P184L|ENST00000358580,p.P184L|uc021yeg.1,p.P184L|ENST00000467078,p.P184L|ENST00000357560,p.P184L|uc003lgd.1,p.P184L|uc003lge.1,p.P184L|NM_133174,p.P184L|ENST00000511201,p.P184L|ENST00000356738,p.P184L|uc021yeh.1,p.P184L|ENST00000354402,p.P184L|NM_006051,p.P184L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021yeh.1	nonsynonymous SNV	exon6	c.C551T	p.P184L	MILKKDAMSLVNPLDHSLIHCQPLV	MILKKDAMSLVNLLDHSLIHCQPLV	6.0	10.0	-	-	4189_5:139941760-139941760 G>A_MILKKDAMSLVNLLDHSLIHCQPLV
10:91497836-91497836 G>A	1.0	4189	MELANOMA	-	-	-	-	KIF20B	ENST00000371728,p.E1080K|uc001kgt.1,p.E291K|uc001kgs.1,p.E1080K|ENST00000416354,p.E1110K|NM_016195,p.E1040K|ENST00000394289,p.E1080K|ENST00000260753,p.E1040K|uc001kgr.1,p.E1040K|NM_001284259,p.E1080K	protein_coding, processed_transcript	uc001kgt.1	nonsynonymous SNV	exon7	c.G871A	p.E291K	VKASSKKSHQIEELEQQIEKLQAEV	VKASSKKSHQIEKLEQQIEKLQAEV	7.0	9.0	-	-	4189_10:91497836-91497836 G>A_VKASSKKSHQIEKLEQQIEKLQAEV
9:39358847-39358847 C>T	0.0	4189	MELANOMA	-	-	-	-	SPATA31A1	NM_001085452,p.S376F|uc004abm.3,p.S362F|ENST00000377647,p.S362F	protein_coding, processed_transcript	uc004abm.3	nonsynonymous SNV	exon4	c.C1085T	p.S362F	FTDRMTPEKHLNSLRNLAKSLDAEQ	FTDRMTPEKHLNFLRNLAKSLDAEQ	5.0	9.0	unscreened	-	4189_9:39358847-39358847 C>T_FTDRMTPEKHLNFLRNLAKSLDAEQ
17:3100999-3100999 C>T	0.0	4189	MELANOMA	-	-	-	-	OR1A2	uc002fvd.1,p.L63F|NM_012352,p.L63F|ENST00000381951,p.L63F	protein_coding	uc002fvd.1	nonsynonymous SNV	exon1	c.C187T	p.L63F	ADIRLHNPMYFLLANLSLVDIIFSS	ADIRLHNPMYFLFANLSLVDIIFSS	1.0	10.0	unscreened	-	4189_17:3100999-3100999 C>T_ADIRLHNPMYFLFANLSLVDIIFSS
12:549784-549784 C>T	0.0	4189	MELANOMA	-	-	-	-	CCDC77	uc010sdp.2,p.S316F|ENST00000422000,p.S316F|uc001qig.3,p.S348F|uc009zdk.3,p.S316F|uc010sdq.2,p.S316F|NM_001130147,p.S316F|ENST00000412006,p.S316F|ENST00000239830,p.S348F|ENST00000543504,p.S316F|NM_032358,p.S348F|NM_001130146,p.S316F|NM_001130148,p.S316F|ENST00000540180,p.S316F	retained_intron, protein_coding, processed_transcript	uc010sdq.2	nonsynonymous SNV	exon10	c.C947T	p.S316F	HESHHAQSEYIKSLKDKLVQEKKLS	HESHHAQSEYIKFLKDKLVQEKKLS	7.0	1.0	-	-	4189_12:549784-549784 C>T_HESHHAQSEYIKFLKDKLVQEKKLS
5:35807284-35807284 G>A	0.0	4189	MELANOMA	-	-	-	-	SPEF2	ENST00000440995,p.E1765K|uc003jjr.3,p.E825K|ENST00000303129,p.E567K|uc003jjp.1,p.E1256K|uc003jjo.3,p.E1770K|ENST00000356031,p.E1770K|NM_024867,p.E1770K	retained_intron, protein_coding, nonsense_mediated_decay	uc003jjr.3	nonsynonymous SNV	exon14	c.G2473A	p.E825K	FQDLGAKNLEPIEVAVLLKHPFIQD	FQDLGAKNLEPIKVAVLLKHPFIQD	5.0	10.0	unscreened	-	4189_5:35807284-35807284 G>A_FQDLGAKNLEPIKVAVLLKHPFIQD
7:18625098-18625098 G>A	1.0	4189	MELANOMA	-	-	-	-	HDAC9	NM_001204145,p.E73K|uc003suj.3,p.E73K|NM_001204147,p.E42K|uc003sud.2,p.E73K|uc011jyb.2,p.E73K|NM_001204148,p.E42K|NM_001204146,p.E73K|ENST00000524023,p.E42K|ENST00000430454,p.E42K|ENST00000406451,p.E73K|ENST00000413380,p.E73K|uc011jyf.2,p.E42K|NM_058176,p.E73K|NM_014707,p.E73K|uc003suf.2,p.E101K|ENST00000456174,p.E42K|ENST00000441986,p.E42K|uc011jya.2,p.E115K|ENST00000405010,p.E73K|uc003sua.1,p.E92K|uc003sui.3,p.E73K|ENST00000401921,p.E73K|uc003sue.3,p.E73K|NM_178423,p.E73K|ENST00000406072,p.E101K|uc010kud.2,p.E73K|uc003suh.3,p.E73K|uc011jyc.2,p.E73K|NM_178425,p.E73K|ENST00000441542,p.E73K|ENST00000417496,p.E115K|ENST00000428307,p.E73K|ENST00000413509,p.E73K|ENST00000432645,p.E73K|uc011jyd.2,p.E73K|NM_001204144,p.E115K|uc011jye.2,p.E42K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011jyf.2	nonsynonymous SNV	exon2	c.G124A	p.E42K	KQLLIAEFQKQHENLTRQHQAQLQE	KQLLIAEFQKQHKNLTRQHQAQLQE	7.0	7.0	-	-	4189_7:18625098-18625098 G>A_KQLLIAEFQKQHKNLTRQHQAQLQE
11:113683096-113683096 G>A	1.0	4189	MELANOMA	-	-	-	-	USP28	uc001poh.3,p.S625F|ENST00000545540,p.S500F|uc010rwy.2,p.S500F|ENST00000538475,p.S329F|ENST00000003302,p.S625F|ENST00000544967,p.S333F|ENST00000260188,p.S625F|uc001pog.3,p.S333F|NM_020886,p.S625F|NM_001301029,p.S500F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rwy.2	nonsynonymous SNV	exon14	c.C1499T	p.S500F	WLKYNDISVTESSWEEVERDSYGGL	WLKYNDISVTESFWEEVERDSYGGL	7.0	7.0	-	-	4189_11:113683096-113683096 G>A_WLKYNDISVTESFWEEVERDSYGGL
6:30609962-30609962 G>A	1.0	4189	MELANOMA	-	-	-	-	ATAT1	ENST00000319027,p.R198K|ENST00000376478,p.R198K|NM_001254952,p.R198K|uc003rdd.3,p.R198K|ENST00000318999,p.R198K|uc011dmm.2,p.R186K|uc003nqs.4,p.R198K	retained_intron, protein_coding, processed_transcript	uc011dmm.2	nonsynonymous SNV	exon8	c.G557A	p.R186K	FEGFFAHQHPPARKLPPKRAEGDIK	FEGFFAHQHPPAKKLPPKRAEGDIK	7.0	4.0	-	-	4189_6:30609962-30609962 G>A_FEGFFAHQHPPAKKLPPKRAEGDIK
9:125148878-125148878 C>T	0.0	4189	MELANOMA	-	-	-	-	PTGS1	ENST00000362012,p.P388L|uc004bmh.2,p.P279L|uc011lyt.2,p.P279L|uc004bmg.2,p.P388L|uc031tey.1,p.P340L|NM_001271164,p.P340L|NM_001271165,p.P279L|NM_000962,p.P388L|ENST00000373698,p.P279L	protein_coding	uc031tey.1	nonsynonymous SNV	exon8	c.C1019T	p.P340L	IAMEFNHLYHWHPLMPDSFKVGSQE	IAMEFNHLYHWHLLMPDSFKVGSQE	5.0	3.0	-	-	4189_9:125148878-125148878 C>T_IAMEFNHLYHWHLLMPDSFKVGSQE
4:76720820-76720820 A>G	1.0	4189	MELANOMA	-	-	-	-	USO1	uc003hiv.3,p.T342A|ENST00000514213,p.T485A|ENST00000538159,p.T509A|uc003hiw.3,p.T335A	retained_intron, protein_coding	uc003hiw.3	nonsynonymous SNV	exon11	c.A1003G	p.T335A	IQTRVGLLMLLCTWLSNCPIAVTHF	IQTRVGLLMLLCAWLSNCPIAVTHF	10.0	4.0	-	-	4189_4:76720820-76720820 A>G_IQTRVGLLMLLCAWLSNCPIAVTHF
9:125148878-125148878 C>T	0.0	4189	MELANOMA	-	-	-	-	PTGS1	ENST00000540753,p.P363L|NM_080591,p.P388L|uc004bmf.2,p.P388L|NM_001271368,p.P363L|NM_001271166,p.P279L|uc031tez.1,p.P279L|uc011lys.2,p.P363L|ENST00000223423,p.P388L|NM_001271367,p.P279L|uc010mwb.2,p.P279L	protein_coding	uc031tez.1	nonsynonymous SNV	exon9	c.C836T	p.P279L	IAMEFNHLYHWHPLMPDSFKIGGGR	IAMEFNHLYHWHLLMPDSFKIGGGR	5.0	3.0	-	-	4189_9:125148878-125148878 C>T_IAMEFNHLYHWHLLMPDSFKIGGGR
6:152655269-152655269 C>T	1.0	4189	MELANOMA	-	-	ID=COSM3430206,COSM1441446,COSM32658,COSM1441445,COSM3430205;OCCURENCE=1(central_nervous_system),5(large_intestine)	-	SYNE1	ENST00000367255,p.R4223H|uc003qot.4,p.R4152H|ENST00000448038,p.R4152H|uc003qou.4,p.R4223H|NM_033071,p.R4152H|ENST00000265368,p.R4223H|ENST00000341594,p.R4088H|NM_182961,p.R4223H|ENST00000423061,p.R4152H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003qou.4	nonsynonymous SNV	exon77	c.G12668A	p.R4223H	INHLNDQWLDLCRQSNNLCLQREED	INHLNDQWLDLCHQSNNLCLQREED	9.0	8.0	-	-	4189_6:152655269-152655269 C>T_INHLNDQWLDLCHQSNNLCLQREED
1:157062826-157062826 G>A	0.0	4189	MELANOMA	-	-	-	-	ETV3L	NM_001004341,p.P234L|uc001fqq.2,p.P234L|ENST00000454449,p.P234L	protein_coding	uc001fqq.2	nonsynonymous SNV	exon5	c.C701T	p.P234L	VQGELPGVASFTPPLPPPLPSNWTC	VQGELPGVASFTLPLPPPLPSNWTC	3.0	9.0	unscreened	-	4189_1:157062826-157062826 G>A_VQGELPGVASFTLPLPPPLPSNWTC
1:12819418-12819418 T>A	0.0	4189	MELANOMA	0.0005	-	-	-	C1orf158	ENST00000376210,p.L96H|uc001auh.3,p.L134H|NM_152290,p.L134H|ENST00000288048,p.L134H	protein_coding, processed_transcript	uc001auh.3	nonsynonymous SNV	exon3	c.T401A	p.L134H	LLWLPEKSDFPLLAPPTNYGLYEQL	LLWLPEKSDFPLHAPPTNYGLYEQL	1.0	8.0	unscreened	-	4189_1:12819418-12819418 T>A_LLWLPEKSDFPLHAPPTNYGLYEQL
9:113276245-113276245 G>A	0.0	4189	MELANOMA	-	-	-	-	SVEP1	ENST00000374469,p.S346F|ENST00000302728,p.S369F|ENST00000401783,p.S369F|uc010mua.1,p.S369F|uc004bev.3,p.S113F|ENST00000374461,p.S346F|uc004beu.2,p.S369F|uc010mtz.3,p.S369F|NM_153366,p.S369F	protein_coding, processed_transcript	uc010mua.1	nonsynonymous SNV	exon4	c.C1106T	p.S369F	PEDCVCREGYRASGQTCELVHCPAL	PEDCVCREGYRAFGQTCELVHCPAL	5.0	2.0	unscreened	-	4189_9:113276245-113276245 G>A_PEDCVCREGYRAFGQTCELVHCPAL
1:12819417-12819417 C>T	0.0	4189	MELANOMA	-	-	-	-	C1orf158	uc010obe.1,p.L134F	protein_coding, processed_transcript	uc010obe.1	nonsynonymous SNV	exon3	c.C400T	p.L134F	LLWLPEKSDFPLLGTFIIQGIPLRW	LLWLPEKSDFPLFGTFIIQGIPLRW	1.0	7.0	unscreened	-	4189_1:12819417-12819417 C>T_LLWLPEKSDFPLFGTFIIQGIPLRW
X:119438325-119438325 C>T	1.0	4189	MELANOMA	-	-	-	-	TMEM255A	ENST00000519908,p.R27Q|NM_017938,p.R27Q|ENST00000440464,p.R27Q|NM_001104544,p.R27Q|uc010nqo.3,p.R27Q|uc004esp.4,p.R27Q|uc004eso.4,p.R27Q|ENST00000371369,p.R27Q|ENST00000309720,p.R27Q|NM_001104545,p.R27Q	protein_coding, processed_transcript	uc010nqo.3	nonsynonymous SNV	exon2	c.G80A	p.R27Q	LPDSMGAFNRRKRNSIYVTVTLLIV	LPDSMGAFNRRKQNSIYVTVTLLIV	8.0	10.0	-	-	4189_X:119438325-119438325 C>T_LPDSMGAFNRRKQNSIYVTVTLLIV
16:85135900-85135900 C>T	0.0	4189	MELANOMA	-	-	-	-	FAM92B	uc021tma.1,p.V191I|NM_198491,p.V191I|ENST00000539556,p.V191I	protein_coding	uc021tma.1	nonsynonymous SNV	exon7	c.G571A	p.V191I	QKFFCDFVTIEMVFHAKAVEVYSSA	QKFFCDFVTIEMIFHAKAVEVYSSA	2.0	8.0	unscreened	-	4189_16:85135900-85135900 C>T_QKFFCDFVTIEMIFHAKAVEVYSSA
5:41000856-41000856 A>C	0.0	4189	MELANOMA	-	-	-	-	MROH2B	uc003jmj.4,p.F1425C|ENST00000506092,p.F980C|ENST00000399564,p.F1425C|uc003jmi.4,p.F980C|NM_173489,p.F1425C	retained_intron, protein_coding	uc003jmj.4	nonsynonymous SNV	exon38	c.T4274G	p.F1425C	DLAPLTGRRWKIFFAEEIKKSLISF	DLAPLTGRRWKICFAEEIKKSLISF	1.0	10.0	unscreened	-	4189_5:41000856-41000856 A>C_DLAPLTGRRWKICFAEEIKKSLISF
5:140237491-140237491 C>T	0.0	4189	MELANOMA	-	-	-	-	PCDHA10	uc003lhx.2,p.P620S|NM_031859,p.P620S|uc011dad.2,p.P620S|NM_018901,p.P620S|ENST00000307360,p.P620S	protein_coding	uc011dad.2	nonsynonymous SNV	exon1	c.C1858T	p.P620S	YELQSAAVGARIPFRVGLYTGEIST	YELQSAAVGARISFRVGLYTGEIST	4.0	10.0	unscreened	-	4189_5:140237491-140237491 C>T_YELQSAAVGARISFRVGLYTGEIST
6:30671301-30671301 G>A	1.0	4189	MELANOMA	-	-	-	-	MDC1	uc003nrf.4,p.P490L|uc003nrg.4,p.P1859L|ENST00000376406,p.P1859L|ENST00000376405,p.P1595L|NM_014641,p.P1859L	retained_intron, protein_coding, processed_transcript	uc003nrg.4	nonsynonymous SNV	exon11	c.C5576T	p.P1859L	AEKPGKEEDVVTPKPGKRKRDQAEE	AEKPGKEEDVVTLKPGKRKRDQAEE	8.0	6.0	-	-	4189_6:30671301-30671301 G>A_AEKPGKEEDVVTLKPGKRKRDQAEE
1:12819418-12819418 T>A	0.0	4189	MELANOMA	0.0005	-	-	-	C1orf158	uc010obe.1,p.L134H	protein_coding, processed_transcript	uc010obe.1	nonsynonymous SNV	exon3	c.T401A	p.L134H	LLWLPEKSDFPLLGTFIIQGIPLRW	LLWLPEKSDFPLHGTFIIQGIPLRW	1.0	8.0	unscreened	-	4189_1:12819418-12819418 T>A_LLWLPEKSDFPLHGTFIIQGIPLRW
12:97137914-97137914 A>T	0.0	4189	MELANOMA	-	-	-	-	CDK17,NEDD1	ENST00000524981,p.K1009N|uc021rcc.1,p.K983N	-	uc021rcc.1	nonsynonymous SNV	exon22	c.A2949T	p.K983N	IYLPHVMLLAKIKMRIGHTVAKQVY	IYLPHVMLLAKINMRIGHTVAKQVY	1.0	2.0	unscreened	-	4189_12:97137914-97137914 A>T_IYLPHVMLLAKINMRIGHTVAKQVY
7:30821650-30821650 C>T	1.0	4189	MELANOMA	-	-	-	-	FAM188B	NM_032222,p.H81Y|uc010kwe.3,p.H52Y|uc003tbt.3,p.H81Y|ENST00000265299,p.H81Y	retained_intron, protein_coding	uc010kwe.3	nonsynonymous SNV	exon5	c.C154T	p.H52Y	TSLELITRYFLDHFGNTANNFTQDT	TSLELITRYFLDYFGNTANNFTQDT	4.0	3.0	unscreened	-	4189_7:30821650-30821650 C>T_TSLELITRYFLDYFGNTANNFTQDT
14:68271934-68271934 C>T	0.0	4189	MELANOMA	-	-	-	-	ZFYVE26	NM_015346,p.S424N|uc001xkc.4,p.S424N|ENST00000347230,p.S424N|uc010tta.2,p.S424N|uc001xka.2,p.S424N|ENST00000555452,p.S424N	retained_intron, protein_coding, nonsense_mediated_decay	uc010tta.2	nonsynonymous SNV	exon8	c.G1271A	p.S424N	HLEVLEWCIQQSSNPIPKRDLLYHL	HLEVLEWCIQQSNNPIPKRDLLYHL	9.0	5.0	-	-	4189_14:68271934-68271934 C>T_HLEVLEWCIQQSNNPIPKRDLLYHL
3:140406788-140406788 G>A	0.0	4189	MELANOMA	-	-	-	-	TRIM42	NM_152616,p.E422K|uc003eto.2,p.E422K|ENST00000286349,p.E422K	protein_coding	uc003eto.2	nonsynonymous SNV	exon3	c.G1264A	p.E422K	EKYVYVTTMKVNEMDGLIAYSKEAL	EKYVYVTTMKVNKMDGLIAYSKEAL	2.0	2.0	unscreened	-	4189_3:140406788-140406788 G>A_EKYVYVTTMKVNKMDGLIAYSKEAL
2:166901729-166901729 C>T	1.0	4189	MELANOMA	-	-	-	-	SCN1A	ENST00000409050,p.E496K|ENST00000375405,p.E496K|ENST00000423058,p.E496K|NM_001202435,p.E496K|NM_001165964,p.E496K|NM_001165963,p.E496K|uc010fpk.3,p.E496K|uc021vsb.1,p.E496K|NM_006920,p.E496K|ENST00000303395,p.E496K|uc002udo.4,p.E496K	retained_intron, protein_coding	uc021vsb.1	nonsynonymous SNV	exon10	c.G1486A	p.E496K	SEASKLSSKSAKERRNRRKKRKQKE	SEASKLSSKSAKKRRNRRKKRKQKE	4.0	3.0	unscreened	-	4189_2:166901729-166901729 C>T_SEASKLSSKSAKKRRNRRKKRKQKE
11:45907463-45907463 C>T	0.0	4189	MELANOMA	-	-	-	-	MAPK8IP1	uc001nbr.3,p.P31L|ENST00000241014,p.P31L|NM_005456,p.P31L	retained_intron, protein_coding, processed_transcript	uc001nbr.3	nonsynonymous SNV	exon1	c.C92T	p.P31L	ASPFLGLHIASPPNFRLTHDISLEE	ASPFLGLHIASPLNFRLTHDISLEE	5.0	7.0	-	-	4189_11:45907463-45907463 C>T_ASPFLGLHIASPLNFRLTHDISLEE
20:57428808-57428808 C>T	0.0	4189	MELANOMA	-	-	-	1	GNAS	uc002xzw.3,p.P163L|ENST00000371100,p.P163L|ENST00000371102,p.P163L|ENST00000371099,p.P163L|NM_080425,p.P163L	retained_intron, protein_coding, processed_transcript	uc002xzw.3	nonsynonymous SNV	exon1	c.C488T	p.P163L	LGGYSPPPEEAMPFEFDQPAQRGCS	LGGYSPPPEEAMLFEFDQPAQRGCS	10.0	3.0	-	-	4189_20:57428808-57428808 C>T_LGGYSPPPEEAMLFEFDQPAQRGCS
10:30654175-30654175 G>A	0.0	4189	MELANOMA	-	-	-	-	GOLGA2P6	ENST00000358107,p.L30F|uc001ivb.4,p.L30F	protein_coding, processed_transcript	uc001ivb.4	nonsynonymous SNV	exon8	c.C88T	p.L30F	SRCDPIILDPEWLYGPPEGEGGPEG	SRCDPIILDPEWFYGPPEGEGGPEG	7.0	8.0	-	-	4189_10:30654175-30654175 G>A_SRCDPIILDPEWFYGPPEGEGGPEG
4:57301560-57301560 A>C	1.0	4189	MELANOMA	-	-	-	-	PPAT	ENST00000264220,p.D28E|NM_002703,p.D28E|uc003hbr.3,p.D28E|ENST00000510643,p.D28E|ENST00000507724,p.D28E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003hbr.3	nonsynonymous SNV	exon1	c.T84G	p.D28E	GCIASGEWPTQLDVPHVITLGLVGL	GCIASGEWPTQLEVPHVITLGLVGL	5.0	5.0	-	-	4189_4:57301560-57301560 A>C_GCIASGEWPTQLEVPHVITLGLVGL
13:52952490-52952490 C>T	0.0	4189	MELANOMA	-	-	-	-	THSD1	NM_018676,p.E539K|uc001vgo.3,p.E539K|uc001vgp.3,p.E486K|ENST00000258613,p.E539K|NM_199263,p.E486K|ENST00000544466,p.E160K|uc010tgz.2,p.E160K|ENST00000349258,p.E486K	protein_coding	uc010tgz.2	nonsynonymous SNV	exon3	c.G478A	p.E160K	LFSYRLAQQQLKEMKKKGLTETTKV	LFSYRLAQQQLKKMKKKGLTETTKV	4.0	2.0	-	-	4189_13:52952490-52952490 C>T_LFSYRLAQQQLKKMKKKGLTETTKV
3:167338376-167338376 A>C	0.0	4189	MELANOMA	-	-	-	-	WDR49	ENST00000479765,p.F267V|uc003few.1,p.F267V	protein_coding, nonsense_mediated_decay	uc003few.1	nonsynonymous SNV	exon5	c.T799G	p.F267V	FGDITGKVQAIAFTAALISLFERPA	FGDITGKVQAIAVTAALISLFERPA	2.0	1.0	unscreened	-	4189_3:167338376-167338376 A>C_FGDITGKVQAIAVTAALISLFERPA
9:34493301-34493301 G>A	0.0	4189	MELANOMA	-	-	-	-	DNAI1	ENST00000437363,p.R253K|NM_001281428,p.R268K|uc003zum.3,p.R264K|ENST00000242317,p.R264K|NM_012144,p.R264K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003zum.3	nonsynonymous SNV	exon9	c.G791A	p.R264K	TPVAKKSGKMAMRKLTSMESQTDDL	TPVAKKSGKMAMKKLTSMESQTDDL	3.0	10.0	unscreened	-	4189_9:34493301-34493301 G>A_TPVAKKSGKMAMKKLTSMESQTDDL
1:12726669-12726669 T>A	0.0	4189	MELANOMA	-	-	-	-	AADACL4	NM_001013630,p.F383I|ENST00000376221,p.F383I|uc001auf.3,p.F383I	protein_coding	uc001auf.3	nonsynonymous SNV	exon4	c.T1147A	p.F383I	HLYDGFHGSIIFFDKKALSFPCSLK	HLYDGFHGSIIFIDKKALSFPCSLK	1.0	3.0	unscreened	-	4189_1:12726669-12726669 T>A_HLYDGFHGSIIFIDKKALSFPCSLK
19:8389421-8389421 C>T	0.0	4189	MELANOMA	-	-	-	-	KANK3	NM_198471,p.S765N|ENST00000593649,p.S765N|uc010dwa.3,p.S765N|ENST00000330915,p.S765N	retained_intron, protein_coding	uc010dwa.3	nonsynonymous SNV	exon10	c.G2294A	p.S765N	GCDPAILDNEGTSALAIALEAEQDE	GCDPAILDNEGTNALAIALEAEQDE	4.0	10.0	-	-	4189_19:8389421-8389421 C>T_GCDPAILDNEGTNALAIALEAEQDE
6:36259226-36259226 C>T	0.0	4189	MELANOMA	-	-	-	-	PNPLA1	uc010jwe.1,p.S17F|ENST00000312917,p.S17F|uc003olw.1,p.S17F|NM_001145716,p.S17F|NM_173676,p.S17F|ENST00000394571,p.S112F|uc010jwf.2,p.S112F|ENST00000457797,p.S112F|ENST00000388715,p.S17F|NM_001145717,p.S112F	protein_coding	uc010jwf.2	nonsynonymous SNV	exon2	c.C335T	p.S112F	MRQFLYRVLPEDSYKVTTGKLHVSL	MRQFLYRVLPEDFYKVTTGKLHVSL	3.0	3.0	unscreened	-	4189_6:36259226-36259226 C>T_MRQFLYRVLPEDFYKVTTGKLHVSL
6:33156813-33156813 C>T	1.0	4189	MELANOMA	-	-	-	-	COL11A2	ENST00000374713,p.G129R|NM_001163771,p.G129R|ENST00000395194,p.G129R|NM_080679,p.G129R|ENST00000374714,p.G129R|NM_080680,p.G129R|uc003ocy.1,p.G129R|uc003ocx.1,p.G129R|ENST00000374712,p.G129R|ENST00000341947,p.G129R|ENST00000374708,p.G129R|ENST00000395197,p.G129R|NM_080681,p.G129R|ENST00000457788,p.G129R|uc003oda.3,p.G129R|ENST00000357486,p.G129R|uc003ocz.1,p.G129R|ENST00000361917,p.G129R	protein_coding, processed_transcript	uc003oda.3	nonsynonymous SNV	exon3	c.G385A	p.G129R	GRPVRFLYEDQTGRPQPPSQPVFRG	GRPVRFLYEDQTRRPQPPSQPVFRG	8.0	5.0	-	-	4189_6:33156813-33156813 C>T_GRPVRFLYEDQTRRPQPPSQPVFRG
20:42343903-42343903 C>T	1.0	4189	MELANOMA	-	-	-	-	MYBL2	uc010zwj.1,p.H628Y|uc002xlb.1,p.H652Y|NM_002466,p.H652Y|NM_001278610,p.H628Y|ENST00000396863,p.H628Y|ENST00000217026,p.H652Y	protein_coding	uc010zwj.1	nonsynonymous SNV	exon12	c.C1882T	p.H628Y	PEKAAVAQKPRSHFTTPAPMSSAWK	PEKAAVAQKPRSYFTTPAPMSSAWK	8.0	7.0	-	-	4189_20:42343903-42343903 C>T_PEKAAVAQKPRSYFTTPAPMSSAWK
17:48738370-48738370 C>T	0.0	4189	MELANOMA	-	-	-	-	ABCC3	ENST00000285238,p.S298F|uc002isk.4,p.S298F|uc002isl.3,p.S298F|ENST00000505699,p.S298F|ENST00000427699,p.S298F|NM_003786,p.S298F|NM_001144070,p.S298F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002isl.3	nonsynonymous SNV	exon8	c.C893T	p.S298F	VLLGARPRPRKPSFLKALLATFGSS	VLLGARPRPRKPFFLKALLATFGSS	6.0	8.0	-	-	4189_17:48738370-48738370 C>T_VLLGARPRPRKPFFLKALLATFGSS
7:111484928-111484928 T>C	0.0	4189	MELANOMA	-	-	-	-	DOCK4	ENST00000428084,p.D876G|NM_014705,p.D876G|uc003vfy.3,p.D876G|ENST00000437633,p.D876G|uc003vfx.3,p.D876G|uc003vfw.3,p.D317G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vfy.3	nonsynonymous SNV	exon25	c.A2627G	p.D876G	KNSSEKSVLEEIDVIVASLLDILLR	KNSSEKSVLEEIGVIVASLLDILLR	9.0	4.0	unscreened	-	4189_7:111484928-111484928 T>C_KNSSEKSVLEEIGVIVASLLDILLR
2:138030231-138030231 C>T	0.0	4189	MELANOMA	-	-	-	-	THSD7B	uc002tvb.3,p.R658W|ENST00000413152,p.R768W|uc002tva.1,p.R768W|ENST00000272643,p.R799W|ENST00000409968,p.R799W	retained_intron, protein_coding, processed_transcript	uc002tvb.3	nonsynonymous SNV	exon9	c.C1972T	p.R658W	RECEDVSLCPVYRWKPQKWSPCILV	RECEDVSLCPVYWWKPQKWSPCILV	3.0	3.0	unscreened	-	4189_2:138030231-138030231 C>T_RECEDVSLCPVYWWKPQKWSPCILV
14:91739979-91739979 C>T	0.0	4189	MELANOMA	-	-	-	-	CCDC88C	ENST00000331194,p.D217N|uc001xzi.3,p.D143N|uc010aty.3,p.D1693N|NM_001080414,p.D1693N|uc001xzj.3,p.D217N|ENST00000389857,p.D1693N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010aty.3	nonsynonymous SNV	exon30	c.G5077A	p.D1693N	RSSPTHDTPSCRDDLLSDYFRKASD	RSSPTHDTPSCRNDLLSDYFRKASD	6.0	6.0	-	-	4189_14:91739979-91739979 C>T_RSSPTHDTPSCRNDLLSDYFRKASD
16:1816385-1816385 C>T	1.0	4189	MELANOMA	-	-	-	-	MAPK8IP3	NM_015133,p.P931S|uc010uvl.2,p.P932S|NM_001040439,p.P925S|ENST00000356010,p.P925S|uc021tah.1,p.P925S|ENST00000250894,p.P931S|uc002cmk.3,p.P931S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tah.1	nonsynonymous SNV	exon21	c.C2773T	p.P925S	LTEHVFTDPAPTPSSGPQPGSENGP	LTEHVFTDPAPTSSSGPQPGSENGP	8.0	8.0	-	-	4189_16:1816385-1816385 C>T_LTEHVFTDPAPTSSSGPQPGSENGP
16:68382304-68382304 A>T	1.0	4189	MELANOMA	-	-	-	-	PRMT7	ENST00000441236,p.L411F|NM_019023,p.L461F|uc010vlg.2,p.L411F|uc002evy.2,p.L461F|NM_001184824,p.L411F|ENST00000449359,p.L411F|ENST00000568975,p.L461F|NM_001290018,p.L461F|ENST00000339507,p.L461F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vlg.2	nonsynonymous SNV	exon12	c.A1233T	p.L411F	EDKINIIEKRPELLTNEDLQGRKVS	EDKINIIEKRPEFLTNEDLQGRKVS	8.0	8.0	-	-	4189_16:68382304-68382304 A>T_EDKINIIEKRPEFLTNEDLQGRKVS
1:156553222-156553222 G>A	1.0	4189	MELANOMA	-	-	-	-	TTC24	ENST00000368236,p.E378K|uc021pbf.1,p.E378K|ENST00000368237,p.E378K|NM_001105669,p.E378K	protein_coding, processed_transcript	uc021pbf.1	nonsynonymous SNV	exon5	c.G1132A	p.E378K	LGQYDQALKYYKEALAQCQKEPDSV	LGQYDQALKYYKKALAQCQKEPDSV	2.0	9.0	unscreened	-	4189_1:156553222-156553222 G>A_LGQYDQALKYYKKALAQCQKEPDSV
3:121100349-121100349 T>C	0.0	4189	MELANOMA	-	-	-	-	STXBP5L	uc011bji.2,p.F853L|uc003eec.4,p.F877L|ENST00000273666,p.F877L|ENST00000472879,p.F853L|ENST00000497029,p.F851L|ENST00000471262,p.F820L|ENST00000471454,p.F853L|ENST00000492541,p.F877L|NM_014980,p.F877L	protein_coding, nonsense_mediated_decay	uc011bji.2	nonsynonymous SNV	exon22	c.T2557C	p.F853L	ISLNLPLADEQRFTEPVMVLPSGTF	ISLNLPLADEQRLTEPVMVLPSGTF	6.0	4.0	unscreened	-	4189_3:121100349-121100349 T>C_ISLNLPLADEQRLTEPVMVLPSGTF
21:19629303-19629303 G>A	0.0	4189	MELANOMA	-	-	-	-	CHODL	NM_001204176,p.E95K|NM_001204177,p.E95K|ENST00000400131,p.E95K|uc002yks.3,p.E95K|uc002ykr.3,p.E95K|ENST00000400128,p.E95K|uc002yku.3,p.E95K|NM_024944,p.E136K|NM_001204175,p.E95K|ENST00000400127,p.E95K|uc002ykv.3,p.E136K|ENST00000543733,p.E117K|ENST00000400135,p.E95K|uc021whs.1,p.E117K|uc021whr.1,p.E95K|ENST00000338326,p.E95K|uc002ykt.3,p.E95K|ENST00000299295,p.E136K|NM_001204174,p.E117K|NM_001204178,p.E95K	protein_coding	uc021whs.1	nonsynonymous SNV	exon3	c.G349A	p.E117K	GSNSQYRNWYTDEPSCGSEKCVVMY	GSNSQYRNWYTDKPSCGSEKCVVMY	3.0	10.0	unscreened	-	4189_21:19629303-19629303 G>A_GSNSQYRNWYTDKPSCGSEKCVVMY
9:8528696-8528696 G>A	0.0	4189	MELANOMA	-	-	-	-	PTPRD	ENST00000381196,p.L146F|uc003zkq.3,p.L146F|uc003zks.3,p.L146F|NM_001040712,p.L146F|ENST00000463477,p.L146F|ENST00000355233,p.L146F|ENST00000397617,p.L146F|ENST00000397611,p.L146F|ENST00000537002,p.L146F|uc003zkr.3,p.L146F|ENST00000540109,p.L146F|uc003zkk.3,p.L146F|uc003zkt.1,p.L146F|ENST00000486161,p.L146F|NM_002839,p.L146F|ENST00000358503,p.L146F|NM_130392,p.L146F|uc022bdj.1,p.L146F|NM_130393,p.L146F|NM_001171025,p.L146F|uc003zkp.3,p.L146F|ENST00000360074,p.L146F|ENST00000356435,p.L146F|NM_130391,p.L146F|ENST00000397606,p.L146F	retained_intron, protein_coding, processed_transcript	uc022bdj.1	nonsynonymous SNV	exon4	c.C436T	p.L146F	LKVVERTRTATMLCAASGNPDPEIT	LKVVERTRTATMFCAASGNPDPEIT	6.0	9.0	-	-	4189_9:8528696-8528696 G>A_LKVVERTRTATMFCAASGNPDPEIT
16:49671165-49671165 G>A	0.0	4189	MELANOMA	-	-	-	-	ZNF423	ENST00000561648,p.P633L|NM_001271620,p.P573L|uc031qwe.1,p.P573L|ENST00000535559,p.P516L|ENST00000262383,p.P633L|ENST00000562520,p.P573L|uc010vgn.3,p.P516L|ENST00000563137,p.P573L|ENST00000562871,p.P573L|ENST00000567169,p.P516L|uc031qwd.1,p.P633L|NM_015069,p.P633L	retained_intron, protein_coding	uc031qwe.1	nonsynonymous SNV	exon4	c.C1718T	p.P573L	SASANSISNGEYPCNQCDLKFSNFE	SASANSISNGEYLCNQCDLKFSNFE	6.0	8.0	unscreened	-	4189_16:49671165-49671165 G>A_SASANSISNGEYLCNQCDLKFSNFE
10:77158775-77158775 G>A	1.0	4189	MELANOMA	-	-	-	-	ZNF503	NM_032772,p.S558L|uc001jxg.3,p.S558L|ENST00000535216,p.S558L|ENST00000372524,p.S558L	protein_coding, processed_transcript	uc001jxg.3	nonsynonymous SNV	exon2	c.C1673T	p.S558L	PGTDKLLSGYPSSSSLASAAAAAMA	PGTDKLLSGYPSLSSLASAAAAAMA	4.0	9.0	-	-	4189_10:77158775-77158775 G>A_PGTDKLLSGYPSLSSLASAAAAAMA
7:103252197-103252197 G>A	0.0	4189	MELANOMA	-	-	-	-	RELN	ENST00000428762,p.S919L|uc022ajr.1,p.S919L|uc022ajq.1,p.S919L|NM_173054,p.S919L|ENST00000343529,p.S919L|NM_005045,p.S919L|ENST00000424685,p.S919L|uc010liz.3,p.S919L	retained_intron, protein_coding, processed_transcript	uc022ajr.1	nonsynonymous SNV	exon21	c.C2756T	p.S919L	KLASSMRYVETQSMQIGASYMIQFS	KLASSMRYVETQLMQIGASYMIQFS	4.0	2.0	unscreened	-	4189_7:103252197-103252197 G>A_KLASSMRYVETQLMQIGASYMIQFS
2:219691995-219691995 C>T	0.0	4189	MELANOMA	-	-	-	-	PRKAG3	ENST00000529249,p.R326H|NM_017431,p.R326H|ENST00000545803,p.R142H|ENST00000439262,p.R301H|uc002vjb.1,p.R326H|ENST00000233944,p.R326H	retained_intron, protein_coding, nonsense_mediated_decay	uc002vjb.1	nonsynonymous SNV	exon9	c.G977A	p.R326H	VSGNVLHILTHKRLLKFLHIFGSLL	VSGNVLHILTHKHLLKFLHIFGSLL	1.0	4.0	unscreened	-	4189_2:219691995-219691995 C>T_VSGNVLHILTHKHLLKFLHIFGSLL
14:68271934-68271934 C>T	0.0	4189	MELANOMA	-	-	-	-	ZFYVE26	ENST00000554557,p.R424K	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000554557	nonsynonymous SNV	exon8	c.G1271A	p.R424K	HLEVLEWCIQQSRCCKSLLNLPGQV	HLEVLEWCIQQSKCCKSLLNLPGQV	9.0	5.0	-	-	4189_14:68271934-68271934 C>T_HLEVLEWCIQQSKCCKSLLNLPGQV
17:35508295-35508295 ->TT	0.0	4189	MELANOMA	-	-	-	-	ACACA	ENST00000360679,p.N1738fs|NM_198834,p.N1833fs|ENST00000591119,p.N448fs|NM_198838,p.N1718fs|uc010cuy.3,p.N441fs|ENST00000394406,p.N1796fs|NM_198839,p.N1796fs|ENST00000353139,p.N1833fs|uc002hnm.3,p.N1796fs|uc002hnn.3,p.N1796fs|NM_198836,p.N1796fs|NM_198837,p.N1738fs|ENST00000335166,p.N1718fs|uc002hnk.3,p.N1718fs|uc002hnl.3,p.N1738fs|uc002hno.3,p.N1833fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay	uc010cuy.3	frameshift insertion	exon11	c.1322_1323insAA	p.N441fs	DIIGKEEGIGPENLRGSGMIAGESS	DIIGKEEGIGPEKTFEVLE	8.0	1.0	unscreened	-	4189_17:35508295-35508295 ->TT_DIIGKEEGIGPEKTFEVLE
17:77768943-77768943 C>A	0.0	4189	MELANOMA	-	-	-	-	CBX8	ENST00000413392,p.G211C|uc002jxd.2,p.G221C|ENST00000269385,p.G221C|NM_020649,p.G221C	protein_coding, processed_transcript	uc002jxd.2	nonsynonymous SNV	exon5	c.G661T	p.G221C	DPSQRPLGEPSAGLGEYLKGRKLDD	DPSQRPLGEPSACLGEYLKGRKLDD	4.0	8.0	-	-	4189_17:77768943-77768943 C>A_DPSQRPLGEPSACLGEYLKGRKLDD
3:186953558-186953558 A>C	1.0	4189	MELANOMA	-	-	-	-	MASP1	uc003fri.3,p.Y701D|ENST00000392472,p.Y588D|NM_139125,p.Y701D|uc003frj.3,p.Y670D|ENST00000296280,p.Y701D	retained_intron, protein_coding, processed_transcript	uc003frj.3	nonsynonymous SNV	exon10	c.T2008G	p.Y670D	PEECGSKQVYGVYTKVSNYVDWVWE	PEECGSKQVYGVDTKVSNYVDWVWE	5.0	5.0	unscreened	-	4189_3:186953558-186953558 A>C_PEECGSKQVYGVDTKVSNYVDWVWE
1:115256529-115256529 T>C	1.0	4189	MELANOMA	-	-	ID=COSM584;OCCURENCE=4(soft_tissue),3(ovary),4(endometrium),474(skin),7(breast),1(small_intestine),7(urinary_tract),7(adrenal_gland),1(liver),4(eye),2(pancreas),4(biliary_tract),49(large_intestine),5(central_nervous_system),49(NS),289(thyroid),12(lung),9(meninges),3(testis),69(haematopoietic_and_lymphoid_tissue)	1	NRAS	uc009wgu.3,p.Q61R|ENST00000369535,p.Q61R|NM_002524,p.Q61R	protein_coding	uc009wgu.3	nonsynonymous SNV	exon3	c.A182G	p.Q61R	ETCLLDILDTAGQEEYSAMRDQYMR	ETCLLDILDTAGREEYSAMRDQYMR	6.0	10.0	-	-	4189_1:115256529-115256529 T>C_ETCLLDILDTAGREEYSAMRDQYMR
12:80764434-80764434 G>A	0.0	4189	MELANOMA	-	-	-	-	OTOGL	ENST00000547103,p.V2213I|uc021rba.1,p.V244I|uc001szd.3,p.V2225I|ENST00000458043,p.V2225I|ENST00000546620,p.V244I|NM_173591,p.V2225I|uc009zsg.2,p.V105I	protein_coding, nonsense_mediated_decay	uc021rba.1	nonsynonymous SNV	exon9	c.G730A	p.V244I	TDEGAIILNYTMVCPPFNETECKMN	TDEGAIILNYTMICPPFNETECKMN	1.0	8.0	unscreened	-	4189_12:80764434-80764434 G>A_TDEGAIILNYTMICPPFNETECKMN
4:77661506-77661506 G>A	0.0	4189	MELANOMA	-	-	-	-	SHROOM3	uc003hkg.3,p.G505E|uc011cbz.1,p.G551E|uc011cbx.2,p.G727E|ENST00000296043,p.G727E|NM_020859,p.G727E|uc003hkf.1,p.G602E	retained_intron, protein_coding, processed_transcript	uc011cbz.1	nonsynonymous SNV	exon4	c.G1652A	p.G551E	HLDRQVSYPRPEGRTGASASFNSTD	HLDRQVSYPRPEERTGASASFNSTD	5.0	2.0	-	-	4189_4:77661506-77661506 G>A_HLDRQVSYPRPEERTGASASFNSTD
22:19434915-19434915 T>C	1.0	4189	MELANOMA	-	-	-	-	C22orf39	ENST00000509549,p.N60D	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000509549	nonsynonymous SNV	exon2	c.A178G	p.N60D	DLASCRDWEERRNAEAQASRFFQLI	DLASCRDWEERRDAEAQASRFFQLI	8.0	7.0	-	-	4189_22:19434915-19434915 T>C_DLASCRDWEERRDAEAQASRFFQLI
17:79769645-79769645 C>T	0.0	4189	MELANOMA	-	-	-	-	GCGR	ENST00000400723,p.P259L|NM_000160,p.P259L|uc010wuw.2,p.P259L|ENST00000570996,p.P289L|uc010wux.2,p.P289L	retained_intron, protein_coding	uc010wux.2	nonsynonymous SNV	exon7	c.C866T	p.P289L	LYLHNLLGLATLPERSFFSLYLGIG	LYLHNLLGLATLLERSFFSLYLGIG	2.0	10.0	unscreened	-	4189_17:79769645-79769645 C>T_LYLHNLLGLATLLERSFFSLYLGIG
2:155555708-155555708 G>A	0.0	4189	MELANOMA	-	-	-	-	KCNJ3	uc031rpq.1,p.E141K|NM_001260510,p.E141K|ENST00000544049,p.E141K|NM_001260508,p.E141K|uc002tyv.2,p.E141K|NM_002239,p.E141K|uc021vrh.1,p.E141K|NM_001260509,p.E141K|ENST00000295101,p.E141K|uc010zce.2,p.E141K	protein_coding, processed_transcript	uc031rpq.1	nonsynonymous SNV	exon1	c.G421A	p.E141K	NFPSAFLFFIETEATIGYGYRYITD	NFPSAFLFFIETKATIGYGYRYITD	1.0	2.0	unscreened	-	4189_2:155555708-155555708 G>A_NFPSAFLFFIETKATIGYGYRYITD
1:207307851-207307851 C>T	0.0	4189	MELANOMA	-	-	-	-	C4BPA	uc001hfo.3,p.S396L|NM_000715,p.S396L|ENST00000367070,p.S396L	protein_coding, nonsense_mediated_decay	uc001hfo.3	nonsynonymous SNV	exon9	c.C1187T	p.S396L	ANHCVYFYGDEISFSCHETSRFSAI	ANHCVYFYGDEILFSCHETSRFSAI	1.0	1.0	unscreened	-	4189_1:207307851-207307851 C>T_ANHCVYFYGDEILFSCHETSRFSAI
1:182491150-182491150 G>A	0.0	4189	MELANOMA	-	-	-	-	RGSL1	ENST00000443996,p.E648K|ENST00000294854,p.E613K|uc009wxw.3,p.E613K|NM_001137669,p.E613K|ENST00000542961,p.E648K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009wxw.3	nonsynonymous SNV	exon10	c.G1837A	p.E613K	YCEKAPKIDFKMEIIKETKTVSRSN	YCEKAPKIDFKMKIIKETKTVSRSN	1.0	1.0	unscreened	-	4189_1:182491150-182491150 G>A_YCEKAPKIDFKMKIIKETKTVSRSN
16:1816385-1816385 C>T	1.0	4189	MELANOMA	-	-	-	-	MAPK8IP3	uc002cml.3,p.P921S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002cml.3	nonsynonymous SNV	exon20	c.C2761T	p.P921S	RPGPLTEHVFTDPAPTPSSGPQPGS	RPGPLTEHVFTDSAPTPSSGPQPGS	8.0	8.0	-	-	4189_16:1816385-1816385 C>T_RPGPLTEHVFTDSAPTPSSGPQPGS
7:92848576-92848576 G>A	0.0	4189	MELANOMA	-	-	-	-	HEPACAM2	NM_001288810,p.P78S|ENST00000440868,p.P78S|ENST00000394468,p.P90S|uc003umm.3,p.P90S|NM_001288804,p.P113S|NM_001039372,p.P90S|ENST00000453812,p.P113S|uc010lff.3,p.P78S|NM_198151,p.P78S|ENST00000341723,p.P78S|uc003uml.3,p.P78S|uc011khy.2,p.P113S	protein_coding, processed_transcript	uc011khy.2	nonsynonymous SNV	exon3	c.C337T	p.P113S	KYLLGSVNKSVVPDLEYQHKFTMMP	KYLLGSVNKSVVSDLEYQHKFTMMP	1.0	3.0	unscreened	-	4189_7:92848576-92848576 G>A_KYLLGSVNKSVVSDLEYQHKFTMMP
1:154574228-154574228 G>A	1.0	4189	MELANOMA	-	-	-	-	ADAR	ENST00000292205,p.A340V|NM_015841,p.A297V|NM_015840,p.A297V|ENST00000529168,p.A292V|uc001ffh.3,p.A297V|ENST00000368474,p.A297V|NM_001111,p.A297V|uc001ffi.3,p.A297V|uc001ffj.3,p.A297V	retained_intron, protein_coding, processed_transcript	uc001ffj.3	nonsynonymous SNV	exon2	c.C890T	p.A297V	SALEDPLEFLDMAEIKEKICDYLFN	SALEDPLEFLDMVEIKEKICDYLFN	10.0	9.0	-	-	4189_1:154574228-154574228 G>A_SALEDPLEFLDMVEIKEKICDYLFN
12:80764434-80764434 G>A	0.0	4189	MELANOMA	-	-	-	-	OTOGL	ENST00000550182,p.V242I	protein_coding, nonsense_mediated_decay	ENST00000550182	nonsynonymous SNV	exon8	c.G724A	p.V242I	TDEGAIILNYTMVCPPFNETECKMV	TDEGAIILNYTMICPPFNETECKMV	1.0	8.0	unscreened	-	4189_12:80764434-80764434 G>A_TDEGAIILNYTMICPPFNETECKMV
6:70070928-70070928 G>A	0.0	4189	MELANOMA	-	-	-	-	BAI3	uc003pev.4,p.G1255S|uc011dxx.2,p.G461S|ENST00000238918,p.G461S|uc010kak.3,p.G1255S|ENST00000370598,p.G1255S|ENST00000546190,p.G219S|NM_001704,p.G1255S	protein_coding	uc011dxx.2	nonsynonymous SNV	exon13	c.G1381A	p.G461S	NVISKVIIQQPTGLHMPMSMNELSN	NVISKVIIQQPTSLHMPMSMNELSN	2.0	8.0	unscreened	-	4189_6:70070928-70070928 G>A_NVISKVIIQQPTSLHMPMSMNELSN
10:28438918-28438918 G>A	0.0	4189	MELANOMA	-	-	-	-	MPP7	uc001iua.1,p.A76V|ENST00000375719,p.A76V|NM_173496,p.A76V|uc001iub.1,p.A76V|ENST00000375732,p.A76V|ENST00000337532,p.A76V|ENST00000540098,p.A76V|uc009xla.2,p.A76V|ENST00000496637,p.A76V	protein_coding, processed_transcript	uc009xla.2	nonsynonymous SNV	exon4	c.C227T	p.A76V	SPVPILHGAAALADDLAEELQNKPL	SPVPILHGAAALVDDLAEELQNKPL	4.0	2.0	unscreened	-	4189_10:28438918-28438918 G>A_SPVPILHGAAALVDDLAEELQNKPL
X:41412994-41412994 G>A	1.0	4189	MELANOMA	-	-	-	-	CASK	ENST00000421587,p.P644S|uc004dfn.4,p.P644S|ENST00000378158,p.P661S|NM_001126054,p.P650S|ENST00000318588,p.P673S|ENST00000378166,p.P673S|uc004dfm.4,p.P650S|NM_001126055,p.P644S|ENST00000361962,p.P661S|ENST00000378163,p.P673S|uc004dfk.4,p.P488S|NM_003688,p.P673S|ENST00000442742,p.P650S|uc004dfj.4,p.P213S|ENST00000378179,p.P265S|ENST00000378168,p.P128S|uc004dfl.4,p.P673S	protein_coding, processed_transcript	uc004dfn.4	nonsynonymous SNV	exon19	c.C1930T	p.P644S	LENSKNGTAGLIPSPELQEWRVACI	LENSKNGTAGLISSPELQEWRVACI	8.0	10.0	-	-	4189_X:41412994-41412994 G>A_LENSKNGTAGLISSPELQEWRVACI
X:44703820-44703820 G>A	0.0	4189	MELANOMA	-	-	-	-	DUSP21	uc004dgd.3,p.G148S|NM_022076,p.G148S|ENST00000339042,p.G148S	protein_coding	uc004dgd.3	nonsynonymous SNV	exon1	c.G442A	p.G148S	TKSRRPIIRPNNGFWEQLINYEFKL	TKSRRPIIRPNNSFWEQLINYEFKL	2.0	10.0	unscreened	-	4189_X:44703820-44703820 G>A_TKSRRPIIRPNNSFWEQLINYEFKL
12:115112527-115112527 G>A	0.0	4189	MELANOMA	-	-	-	1	TBX3	ENST00000349155,p.R385C|uc001tvu.1,p.R385C|uc001tvt.1,p.R405C|NM_016569,p.R405C|NM_005996,p.R385C|ENST00000257566,p.R405C	retained_intron, protein_coding	uc001tvu.1	nonsynonymous SNV	exon6	c.C1153T	p.R385C	AKISTTTSEEPCRDKGSPAVKAHLF	AKISTTTSEEPCCDKGSPAVKAHLF	6.0	7.0	-	-	4189_12:115112527-115112527 G>A_AKISTTTSEEPCCDKGSPAVKAHLF
1:1268934-1268934 G>A	0.0	4189	MELANOMA	-	-	-	-	TAS1R3	uc010nyk.2,p.R550Q|ENST00000339381,p.R550Q|NM_152228,p.R550Q	protein_coding	uc010nyk.2	nonsynonymous SNV	exon6	c.G1649A	p.R550Q	CTFCGQDEWSPERSTRCFRRRSRFL	CTFCGQDEWSPEQSTRCFRRRSRFL	2.0	10.0	unscreened	-	4189_1:1268934-1268934 G>A_CTFCGQDEWSPEQSTRCFRRRSRFL
18:43310411-43310411 G>A	0.0	4189	MELANOMA	-	-	-	-	SLC14A1	ENST00000415427,p.M98I|uc002lbf.4,p.M42I|uc002lbk.4,p.M42I|NM_015865,p.M42I|NM_001146037,p.M98I|NM_001146036,p.M42I|ENST00000586056,p.M42I|ENST00000586142,p.M42I|ENST00000436407,p.M98I|ENST00000588179,p.M98I|ENST00000586951,p.M42I|NM_001128588,p.M98I|uc002lbj.4,p.M98I|uc010dnk.3,p.M98I|uc021ujg.1,p.M42I|uc010xcn.2,p.M42I|ENST00000589700,p.M42I|ENST00000589891,p.M98I|ENST00000321925,p.M42I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ujg.1	nonsynonymous SNV	exon1	c.G126A	p.M42I	CFPKALGYVTGDMKELANQLKDKPV	CFPKALGYVTGDIKELANQLKDKPV	4.0	1.0	unscreened	-	4189_18:43310411-43310411 G>A_CFPKALGYVTGDIKELANQLKDKPV
5:140166324-140166324 C>T	0.0	4189	MELANOMA	-	-	-	-	PCDHA1	ENST00000378133,p.S150L|NM_018900,p.S150L|uc003lha.2,p.S150L|NM_031411,p.S150L|uc003lhb.2,p.S150L|NM_031410,p.S150L|uc003lgz.3,p.S150L|ENST00000504120,p.S150L|ENST00000394633,p.S150L	protein_coding	uc003lhb.2	nonsynonymous SNV	exon1	c.C449T	p.S150L	QIIFIPESRLLNSRFPIEGAADADI	QIIFIPESRLLNLRFPIEGAADADI	1.0	10.0	-	-	4189_5:140166324-140166324 C>T_QIIFIPESRLLNLRFPIEGAADADI
1:25747154-25747154 T>G	0.0	4189	MELANOMA	-	-	-	-	RHCE	uc001bkg.3,p.K42Q|NM_138617,p.K42Q|ENST00000349438,p.K42Q|ENST00000340849,p.K42Q|uc001bkh.3,p.K42Q|NM_138618,p.K42Q|NM_020485,p.K42Q|ENST00000455194,p.K42Q|ENST00000294413,p.K42Q|NM_138616,p.K42Q|uc001bki.3,p.K42Q|uc001bkf.3,p.K42Q|ENST00000243186,p.K42Q|ENST00000413854,p.K42Q|ENST00000346452,p.K42Q|uc031pln.1,p.K42Q|uc031plo.1,p.K42Q|ENST00000425135,p.K42Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031plo.1	nonsynonymous SNV	exon1	c.A124C	p.K42Q	FFTHYDASLEDQKGLVASYQVGQDL	FFTHYDASLEDQQGLVASYQVGQDL	5.0	10.0	-	-	4189_1:25747154-25747154 T>G_FFTHYDASLEDQQGLVASYQVGQDL
1:36039969-36039969 C>T	0.0	4189	MELANOMA	-	-	-	-	TFAP2E	ENST00000373235,p.L157F|uc010ohy.2,p.L157F|NM_178548,p.L157F	protein_coding	uc010ohy.2	nonsynonymous SNV	exon2	c.C469T	p.L157F	DGAHGLADAPLGLPGLAAAPGLEDL	DGAHGLADAPLGFPGLAAAPGLEDL	4.0	9.0	-	-	4189_1:36039969-36039969 C>T_DGAHGLADAPLGFPGLAAAPGLEDL
1:176564382-176564382 C>T	0.0	4189	MELANOMA	-	-	-	-	PAPPA2	ENST00000367661,p.R548C|uc001gkz.3,p.R548C|NM_020318,p.R548C|ENST00000367662,p.R548C|uc001gky.1,p.R548C|NM_021936,p.R548C	protein_coding, processed_transcript	uc001gkz.3	nonsynonymous SNV	exon3	c.C1642T	p.R548C	EGLNPIVSEEQIRLQHEALNEAFSR	EGLNPIVSEEQICLQHEALNEAFSR	2.0	1.0	unscreened	-	4189_1:176564382-176564382 C>T_EGLNPIVSEEQICLQHEALNEAFSR
1:215972357-215972357 C>A	1.0	4189	MELANOMA	-	-	-	-	USH2A	ENST00000366943,p.G3284W|uc001hku.1,p.G3284W|NM_206933,p.G3284W|ENST00000307340,p.G3284W	retained_intron, protein_coding	uc001hku.1	nonsynonymous SNV	exon50	c.G9850T	p.G3284W	PYSTSGNQICCAGRLHDGHGQKCCG	PYSTSGNQICCAWRLHDGHGQKCCG	3.0	1.0	unscreened	-	4189_1:215972357-215972357 C>A_PYSTSGNQICCAWRLHDGHGQKCCG
10:64950838-64950838 A>T	1.0	4189	MELANOMA	-	-	-	-	JMJD1C	NM_032776,p.I2036N|uc010qiq.2,p.I1854N|NM_001282948,p.I1854N|ENST00000402544,p.I1799N|uc001jmm.3,p.I1748N|ENST00000542921,p.I1854N|uc001jml.3,p.I1799N|ENST00000399262,p.I2036N|uc001jmn.3,p.I2036N|uc009xpi.3,p.I1854N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qiq.2	nonsynonymous SNV	exon16	c.T5561A	p.I1854N	KKENKELTLENQIKEEREQDNSESP	KKENKELTLENQNKEEREQDNSESP	8.0	6.0	-	-	4189_10:64950838-64950838 A>T_KKENKELTLENQNKEEREQDNSESP
13:53419972-53419972 C>T	0.0	4189	MELANOMA	-	-	-	-	PCDH8	NM_002590,p.G867E|ENST00000377942,p.G867E|uc001vhi.3,p.G867E	protein_coding	uc001vhi.3	nonsynonymous SNV	exon1	c.G2600A	p.G867E	GSATGESACHFEGQQRLRGAHAEPY	GSATGESACHFEEQQRLRGAHAEPY	1.0	9.0	unscreened	-	4189_13:53419972-53419972 C>T_GSATGESACHFEEQQRLRGAHAEPY
4:70615506-70615506 G>A	0.0	4189	MELANOMA	-	-	-	-	SULT1B1	NM_014465,p.P103L|uc003hen.3,p.P103L|ENST00000310613,p.P103L|ENST00000510821,p.P103L	protein_coding	uc003hen.3	nonsynonymous SNV	exon4	c.C308T	p.P103L	TSGIEQLEKNPSPRIVKTHLPTDLL	TSGIEQLEKNPSLRIVKTHLPTDLL	2.0	5.0	unscreened	-	4189_4:70615506-70615506 G>A_TSGIEQLEKNPSLRIVKTHLPTDLL
11:117307949-117307949 A>T	0.0	4189	MELANOMA	-	-	-	-	DSCAML1	uc001prh.1,p.F1597I|ENST00000527706,p.F1327I|ENST00000321322,p.F1597I|NM_020693,p.F1597I	protein_coding	uc001prh.1	nonsynonymous SNV	exon26	c.T4789A	p.F1597I	WQGLRANSSGEVFLTELREATWYEL	WQGLRANSSGEVILTELREATWYEL	1.0	9.0	unscreened	-	4189_11:117307949-117307949 A>T_WQGLRANSSGEVILTELREATWYEL
8:36776397-36776397 C>T	0.0	4189	MELANOMA	-	-	-	-	KCNU1	ENST00000522372,p.P860S|uc010lvw.3,p.P860S|NM_001031836,p.P860S|ENST00000399881,p.P860S	protein_coding, nonsense_mediated_decay	uc010lvw.3	nonsynonymous SNV	exon23	c.C2578T	p.P860S	NGHNEKSNCRKVPILTELKNPSNIH	NGHNEKSNCRKVSILTELKNPSNIH	1.0	3.0	unscreened	-	4189_8:36776397-36776397 C>T_NGHNEKSNCRKVSILTELKNPSNIH
7:143175827-143175827 C>T	0.0	4189	MELANOMA	-	-	-	-	TAS2R41	ENST00000408916,p.L288F|uc003wdc.1,p.L288F|NM_176883,p.L288F	protein_coding	uc003wdc.1	nonsynonymous SNV	exon1	c.C862T	p.L288F	ISVHPFILIFSNLKLRSVFSQLLLL	ISVHPFILIFSNFKLRSVFSQLLLL	2.0	3.0	unscreened	-	4189_7:143175827-143175827 C>T_ISVHPFILIFSNFKLRSVFSQLLLL
8:110520097-110520097 C>T	0.0	4189	MELANOMA	-	-	-	-	PKHD1L1	NM_177531,p.P3734S|ENST00000378402,p.P3734S|uc003yne.3,p.P3734S|ENST00000526472,p.P662S	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon69	c.C11200T	p.P3734S	KAMLTFLNGSRIPVTEKAPHKGIIR	KAMLTFLNGSRISVTEKAPHKGIIR	4.0	6.0	unscreened	-	4189_8:110520097-110520097 C>T_KAMLTFLNGSRISVTEKAPHKGIIR
18:44173607-44173607 G>A	0.0	4189	MELANOMA	-	-	-	-	LOXHD1	ENST00000398722,p.P185S|uc010xcw.1,p.P463S|NM_144612,p.P463S|ENST00000441551,p.P463S|uc002lcg.1,p.P185S|ENST00000536736,p.P463S	retained_intron, protein_coding, nonsense_mediated_decay	uc010xcw.1	nonsynonymous SNV	exon10	c.C1387T	p.P463S	GQKGRTDEILLNPNNKWFKPGIIEK	GQKGRTDEILLNSNNKWFKPGIIEK	2.0	4.0	unscreened	-	4189_18:44173607-44173607 G>A_GQKGRTDEILLNSNNKWFKPGIIEK
22:29835093-29835093 G>A	0.0	4189	MELANOMA	-	-	-	-	RFPL1	ENST00000354373,p.E105K|uc003afn.3,p.E105K|NM_021026,p.E105K	protein_coding	uc003afn.3	nonsynonymous SNV	exon1	c.G313A	p.E105K	SWQLERLASHIKELEPKLKKILQMN	SWQLERLASHIKKLEPKLKKILQMN	3.0	5.0	unscreened	-	4189_22:29835093-29835093 G>A_SWQLERLASHIKKLEPKLKKILQMN
14:20345160-20345160 T>A	0.0	4189	MELANOMA	-	-	-	-	OR4K2	uc001vwh.1,p.I245N|ENST00000298642,p.I245N|NM_001005501,p.I245N	protein_coding	uc001vwh.1	nonsynonymous SNV	exon1	c.T734A	p.I245N	SSKALSTCTAHFIVVFLFFGPCIFI	SSKALSTCTAHFNVVFLFFGPCIFI	3.0	7.0	unscreened	-	4189_14:20345160-20345160 T>A_SSKALSTCTAHFNVVFLFFGPCIFI
X:148797622-148797622 C>T	0.0	4189	MELANOMA	-	-	-	-	MAGEA11	ENST00000355220,p.T159I|uc004fdq.3,p.T159I|NM_001011544,p.T130I|NM_005366,p.T159I|uc004fdr.3,p.T130I|uc031tko.1,p.T124I|ENST00000333104,p.T130I|ENST00000412632,p.T130I	retained_intron, protein_coding	uc031tko.1	nonsynonymous SNV	exon7	c.C371T	p.T124I	EAAFFSSTLNVGTLEELPAAESPSP	EAAFFSSTLNVGILEELPAAESPSP	1.0	10.0	unscreened	-	4189_X:148797622-148797622 C>T_EAAFFSSTLNVGILEELPAAESPSP
1:25747154-25747154 T>G	0.0	4189	MELANOMA	-	-	-	-	RHCE	ENST00000533771,p.K42Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000533771	nonsynonymous SNV	exon1	c.A124C	p.K42Q	FFTHYDASLEDQKGLVASYQVFGWP	FFTHYDASLEDQQGLVASYQVFGWP	5.0	10.0	-	-	4189_1:25747154-25747154 T>G_FFTHYDASLEDQQGLVASYQVFGWP
20:47612320-47612320 G>A	1.0	4189	MELANOMA	-	-	-	-	ARFGEF2	NM_006420,p.G1041D|uc002xtx.4,p.G1041D|ENST00000371917,p.G1041D|uc010zyf.2,p.G334D	protein_coding, processed_transcript	uc010zyf.2	nonsynonymous SNV	exon9	c.G1001A	p.G334D	TLAGEEFMGLGLGNLVSGGVDKRQM	TLAGEEFMGLGLDNLVSGGVDKRQM	9.0	7.0	-	-	4189_20:47612320-47612320 G>A_TLAGEEFMGLGLDNLVSGGVDKRQM
12:80839297-80839297 G>A	0.0	4189	MELANOMA	-	-	ID=COSM1364448;OCCURENCE=1(large_intestine)	-	PTPRQ	ENST00000266688,p.G64R|NM_001145026,p.G64R|uc001sze.2,p.G64R|ENST00000551042,p.G266R	retained_intron, protein_coding, processed_transcript	uc001sze.2	nonsynonymous SNV	exon3	c.G190A	p.G64R	NVTKPGPPVFLAGERVGSAGILLSW	NVTKPGPPVFLARERVGSAGILLSW	1.0	2.0	unscreened	-	4189_12:80839297-80839297 G>A_NVTKPGPPVFLARERVGSAGILLSW
X:100747655-100747655 C>T	0.0	4189	MELANOMA	-	-	-	-	ARMCX4	uc031tkd.1,p.A1360V|NM_001256155,p.A1360V|ENST00000423738,p.A1360V|uc031tkc.1,p.A1360V	protein_coding, processed_transcript, nonsense_mediated_decay	uc031tkd.1	nonsynonymous SNV	exon1	c.C4079T	p.A1360V	SSGRSWADTADQASGGSRLGHVDQS	SSGRSWADTADQVSGGSRLGHVDQS	5.0	10.0	-	-	4189_X:100747655-100747655 C>T_SSGRSWADTADQVSGGSRLGHVDQS
12:49444738-49444738 G>A	1.0	4189	MELANOMA	-	-	-	1	KMT2D	NM_003482,p.P910S|uc001rta.4,p.P910S|ENST00000301067,p.P910S	retained_intron, protein_coding, processed_transcript	uc001rta.4	nonsynonymous SNV	exon10	c.C2728T	p.P910S	PALSEPGEPPLSPLPEELPLSPSGE	PALSEPGEPPLSSLPEELPLSPSGE	8.0	7.0	-	-	4189_12:49444738-49444738 G>A_PALSEPGEPPLSSLPEELPLSPSGE
2:190557080-190557080 T>G	0.0	4189	MELANOMA	-	-	-	-	ANKAR	ENST00000520309,p.V380G|ENST00000431575,p.V309G|ENST00000438402,p.V380G|ENST00000441800,p.V144G|uc002uqv.1,p.V380G|uc002uqw.2,p.V380G|ENST00000313581,p.V380G|ENST00000433782,p.V309G|ENST00000281412,p.V144G|NM_144708,p.V380G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002uqw.2	nonsynonymous SNV	exon4	c.T1139G	p.V380G	QNFHYKENQYFHVHGGIEFDISTPS	QNFHYKENQYFHGHGGIEFDISTPS	4.0	4.0	-	-	4189_2:190557080-190557080 T>G_QNFHYKENQYFHGHGGIEFDISTPS
20:29993946-29993946 G>A	0.0	4189	MELANOMA	-	-	-	-	DEFB121	ENST00000376314,p.L4F|NM_001011878,p.L4F|uc002wvv.2,p.L4F	protein_coding, processed_transcript	uc002wvv.2	nonsynonymous SNV	exon1	c.C10T	p.L4F	MKLLLLLLTVTLLLAQ	MKLFLLLLTVTLLLAQ	1.0	1.0	unscreened	-	4189_20:29993946-29993946 G>A_MKLFLLLLTVTLLLAQ
1:154034117-154034117 C>T	0.0	4189	MELANOMA	-	-	-	-	NUP210L	uc001fdw.3,p.G863E|ENST00000271854,p.G863E|NM_001159484,p.G863E|uc010peh.2,p.G863E|ENST00000368559,p.G863E|NM_207308,p.G863E	protein_coding	uc010peh.2	nonsynonymous SNV	exon18	c.G2588A	p.G863E	HGHQILKVHQIKGTVLIGVNFVGYS	HGHQILKVHQIKETVLIGVNFVGYS	2.0	1.0	unscreened	-	4189_1:154034117-154034117 C>T_HGHQILKVHQIKETVLIGVNFVGYS
19:13409932-13409932 G>A	0.0	4189	MELANOMA	-	-	-	-	CACNA1A	NM_001127222,p.R839W|uc021upt.1,p.R840W|NM_001127221,p.R840W|uc010dzc.2,p.R365W|ENST00000360228,p.R839W|ENST00000573710,p.R840W|uc002mwy.3,p.R839W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021upt.1	nonsynonymous SNV	exon19	c.C2518T	p.R840W	PQENRNNNTNKSRAAEPTVDQRLGQ	PQENRNNNTNKSWAAEPTVDQRLGQ	2.0	9.0	-	-	4189_19:13409932-13409932 G>A_PQENRNNNTNKSWAAEPTVDQRLGQ
20:16348200-16348200 C>A	1.0	4189	MELANOMA	-	-	-	-	KIF16B	uc010gci.2,p.G1257V|NM_001199866,p.G1257V|ENST00000408042,p.G1257V	protein_coding	uc010gci.2	nonsynonymous SNV	exon23	c.G3770T	p.G1257V	VQLLLYTTVKVMGDSGHDQCQSLVL	VQLLLYTTVKVMVDSGHDQCQSLVL	7.0	5.0	-	-	4189_20:16348200-16348200 C>A_VQLLLYTTVKVMVDSGHDQCQSLVL
6:43220540-43220540 G>A	0.0	4189	MELANOMA	-	-	-	-	TTBK1	uc003ouq.1,p.E58K|NM_032538,p.E58K|ENST00000259750,p.E58K	protein_coding	uc003ouq.1	nonsynonymous SNV	exon3	c.G172A	p.E58K	GEIYEAMDLLTRENVALKVESAQQP	GEIYEAMDLLTRKNVALKVESAQQP	2.0	2.0	unscreened	-	4189_6:43220540-43220540 G>A_GEIYEAMDLLTRKNVALKVESAQQP
1:28354414-28354414 G>A	1.0	4189	MELANOMA	-	-	-	-	EYA3	ENST00000373871,p.P129S|ENST00000545175,p.P76S|uc010ofs.2,p.P76S|NM_001990,p.P129S|uc001bpi.2,p.P129S|NM_001282562,p.P76S	protein_coding, processed_transcript	uc010ofs.2	nonsynonymous SNV	exon6	c.C226T	p.P76S	LPPFGALWPGMKPESGLIQTPSPSQ	LPPFGALWPGMKSESGLIQTPSPSQ	9.0	8.0	-	-	4189_1:28354414-28354414 G>A_LPPFGALWPGMKSESGLIQTPSPSQ
10:124457868-124457868 G>A	0.0	4189	MELANOMA	-	-	-	-	C10orf120	NM_001010912,p.S130F|ENST00000329446,p.S130F|uc001lgn.3,p.S130F	protein_coding	uc001lgn.3	nonsynonymous SNV	exon3	c.C389T	p.S130F	DYKQAMEYKKKHSSPCAICVPLEKI	DYKQAMEYKKKHFSPCAICVPLEKI	1.0	9.0	unscreened	-	4189_10:124457868-124457868 G>A_DYKQAMEYKKKHFSPCAICVPLEKI
18:28648096-28648096 G>A	0.0	4189	MELANOMA	0.0005	-	ID=COSM3524845;OCCURENCE=1(breast)	-	DSC2	uc002kwl.4,p.S864L|ENST00000280904,p.S864L|NM_024422,p.S864L	protein_coding	uc002kwl.4	nonsynonymous SNV	exon16	c.C2591T	p.S864L	DYVLTYNYEGRGSVAGSVGCCSERQ	DYVLTYNYEGRGLVAGSVGCCSERQ	6.0	4.0	unscreened	-	4189_18:28648096-28648096 G>A_DYVLTYNYEGRGLVAGSVGCCSERQ
19:9085666-9085666 G>A	0.0	4189	MELANOMA	-	-	-	2	MUC16	uc002mkp.3,p.S2050F|NM_024690,p.S2050F|ENST00000397910,p.S2050F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.C6149T	p.S2050F	LDSTISRRNAITSWLWDLTTSLPTT	LDSTISRRNAITFWLWDLTTSLPTT	1.0	7.0	unscreened	-	4189_19:9085666-9085666 G>A_LDSTISRRNAITFWLWDLTTSLPTT
15:42173432-42173432 C>T	0.0	4189	MELANOMA	-	-	-	-	SPTBN5	ENST00000320955,p.V820M|uc001zos.4,p.V820M|NM_016642,p.V820M	retained_intron, protein_coding	uc001zos.4	nonsynonymous SNV	exon13	c.G2458A	p.V820M	GRAASARASLFTVNSALSPPGESLR	GRAASARASLFTMNSALSPPGESLR	3.0	2.0	-	-	4189_15:42173432-42173432 C>T_GRAASARASLFTMNSALSPPGESLR
2:179430806-179430806 C>T	0.0	4189	MELANOMA	-	-	-	-	TTN	ENST00000589042,p.G26685R|ENST00000342992,p.G24117R|uc021vtb.2,p.G17620R|uc021vsz.2,p.G17812R|uc031rqd.1,p.G25044R|ENST00000342175,p.G17812R|NM_001256850,p.G25044R|ENST00000591111,p.G25044R|ENST00000359218,p.G17745R|NM_133437,p.G17812R|NM_003319,p.G17620R|NM_133378,p.G24117R|ENST00000460472,p.G17620R|uc021vsy.2,p.G24117R|NM_001267550,p.G26685R|uc021vta.2,p.G17745R|NM_133432,p.G17745R|uc031rqc.1,p.G26685R	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon276	c.G75130A	p.G25044R	SAFVTVKVLDTPGPPQNLAVKEVRK	SAFVTVKVLDTPRPPQNLAVKEVRK	7.0	2.0	unscreened	-	4189_2:179430806-179430806 C>T_SAFVTVKVLDTPRPPQNLAVKEVRK
5:176023834-176023834 G>-	0.0	4189	MELANOMA	-	-	-	-	GPRIN1	uc021yif.1,p.S1001fs|NM_052899,p.S1001fs|uc003meo.1,p.S1001fs|ENST00000303991,p.S1001fs	protein_coding	uc021yif.1	frameshift deletion	exon1	c.3002delC	p.S1001fs	ALLQSVRRPRCCSRAGPTAE	ALLQSVRRPRCCCGRDPRPS	4.0	10.0	-	-	4189_5:176023834-176023834 G>-_ALLQSVRRPRCCCGRDPRPS
4:74280861-74280861 C>T	0.0	4189	MELANOMA	-	-	ID=COSM109414;OCCURENCE=2(skin),1(endometrium)	-	ALB	ENST00000295897,p.P390S|ENST00000503124,p.P240S|NM_000477,p.P390S|uc011cbe.2,p.P69S|uc003hgw.4,p.P198S|ENST00000415165,p.P198S|uc011cbf.2,p.P280S|uc003hgs.4,p.P390S|ENST00000509063,p.P390S|ENST00000401494,p.P275S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cbf.2	nonsynonymous SNV	exon8	c.C838T	p.P280S	ETTLEKCCAAADPHECYAKVFDEFK	ETTLEKCCAAADSHECYAKVFDEFK	2.0	6.0	unscreened	-	4189_4:74280861-74280861 C>T_ETTLEKCCAAADSHECYAKVFDEFK
1:215972273-215972273 C>T	0.0	4189	MELANOMA	-	-	ID=COSM1689845;OCCURENCE=1(skin)	-	USH2A	NM_206933,p.G3312R|ENST00000366943,p.G3312R|ENST00000307340,p.G3312R|uc001hku.1,p.G3312R	retained_intron, protein_coding	uc001hku.1	nonsynonymous SNV	exon50	c.G9934A	p.G3312R	VSNDLECCGGEEGVVYNRLPGMFCC	VSNDLECCGGEERVVYNRLPGMFCC	3.0	3.0	unscreened	-	4189_1:215972273-215972273 C>T_VSNDLECCGGEERVVYNRLPGMFCC
18:44272162-44272162 G>A	0.0	4189	MELANOMA	-	-	-	-	ST8SIA5	uc010dno.1,p.A130V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dno.1	nonsynonymous SNV	exon4	c.C389T	p.A130V	FDRWKSLQMCKWAMNISEANQFKYL	FDRWKSLQMCKWVMNISEANQFKYL	3.0	3.0	unscreened	-	4189_18:44272162-44272162 G>A_FDRWKSLQMCKWVMNISEANQFKYL
17:40269592-40269592 G>T	1.0	4189	MELANOMA	-	-	-	-	KAT2A	ENST00000225916,p.A484E|uc002hyx.2,p.A484E|NM_021078,p.A484E	retained_intron, protein_coding, nonsense_mediated_decay	uc002hyx.2	nonsynonymous SNV	exon10	c.C1451A	p.A484E	MLGPETSLLSANAARDETARLEERR	MLGPETSLLSANEARDETARLEERR	7.0	7.0	-	-	4189_17:40269592-40269592 G>T_MLGPETSLLSANEARDETARLEERR
16:21080757-21080757 C>A	0.0	4189	MELANOMA	-	-	-	-	DNAH3	ENST00000261383,p.W1120C|NM_017539,p.W1120C|ENST00000415178,p.W1120C|uc010vbe.2,p.W1120C	retained_intron, protein_coding, processed_transcript	uc010vbe.2	nonsynonymous SNV	exon23	c.G3360T	p.W1120C	EEGRKFGIVDSYWKSLMSQAVKDNR	EEGRKFGIVDSYCKSLMSQAVKDNR	1.0	5.0	unscreened	-	4189_16:21080757-21080757 C>A_EEGRKFGIVDSYCKSLMSQAVKDNR
12:47168885-47168885 G>A	0.0	4189	MELANOMA	-	-	-	-	SLC38A4	ENST00000266579,p.R416C|NM_018018,p.R416C|NM_001143824,p.R416C|ENST00000447411,p.R416C|uc001rpj.2,p.R416C|uc001rpi.2,p.R416C	protein_coding	uc001rpj.2	nonsynonymous SNV	exon13	c.C1246T	p.R416C	KVYTLDIPLLMVRLAVLVAVTLTVP	KVYTLDIPLLMVCLAVLVAVTLTVP	3.0	1.0	unscreened	-	4189_12:47168885-47168885 G>A_KVYTLDIPLLMVCLAVLVAVTLTVP
18:44272162-44272162 G>A	0.0	4189	MELANOMA	-	-	-	-	ST8SIA5	uc002lcj.1,p.A94V|ENST00000538168,p.A130V|ENST00000536490,p.A63V|ENST00000315087,p.A94V|NM_013305,p.A94V|uc010xcy.1,p.A130V|uc010xcz.1,p.A63V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xcz.1	nonsynonymous SNV	exon2	c.C188T	p.A63V	FDRWKSLQMCKWAMNISEANQFKST	FDRWKSLQMCKWVMNISEANQFKST	3.0	3.0	unscreened	-	4189_18:44272162-44272162 G>A_FDRWKSLQMCKWVMNISEANQFKST
3:123039600-123039600 C>T	0.0	4189	MELANOMA	-	-	-	-	ADCY5	uc021xdd.1,p.D353N|NM_001199642,p.D353N|NM_183357,p.D703N|uc003egi.1,p.D262N|ENST00000491190,p.D336N|ENST00000462833,p.D703N|ENST00000466617,p.D262N|uc003egg.2,p.D336N|ENST00000309879,p.D353N|uc003egh.2,p.D703N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xdd.1	nonsynonymous SNV	exon9	c.G1057A	p.D353N	KEMKRMGFEDPKDKNAQESANPEDE	KEMKRMGFEDPKNKNAQESANPEDE	4.0	1.0	unscreened	-	4189_3:123039600-123039600 C>T_KEMKRMGFEDPKNKNAQESANPEDE
8:35541083-35541083 G>A	0.0	4189	MELANOMA	-	-	-	-	UNC5D	ENST00000420357,p.E197K|ENST00000453357,p.E192K|ENST00000287272,p.E197K|uc003xjr.2,p.E197K|NM_080872,p.E197K|ENST00000404895,p.E197K|uc003xjs.2,p.E192K|ENST00000416672,p.E197K	retained_intron, protein_coding	uc003xjs.2	nonsynonymous SNV	exon5	c.G574A	p.E192K	GVPAAEVEWLKNEEPIDSEQDENID	GVPAAEVEWLKNKEPIDSEQDENID	1.0	1.0	unscreened	-	4189_8:35541083-35541083 G>A_GVPAAEVEWLKNKEPIDSEQDENID
4:115998065-115998065 A>G	0.0	4189	MELANOMA	-	-	-	-	NDST4	uc003ibu.3,p.L43P|ENST00000264363,p.L43P|NM_022569,p.L43P	retained_intron, protein_coding, nonsense_mediated_decay	uc003ibu.3	nonsynonymous SNV	exon2	c.T128C	p.L43P	YFLYSGYKQEMTLIETTAEAECTDI	YFLYSGYKQEMTPIETTAEAECTDI	1.0	6.0	unscreened	-	4189_4:115998065-115998065 A>G_YFLYSGYKQEMTPIETTAEAECTDI
3:38791636-38791636 C>T	0.0	4189	MELANOMA	-	-	-	-	SCN10A	ENST00000449082,p.E599K|NM_001293306,p.E599K|uc003ciq.3,p.E599K|NM_006514,p.E599K|NM_001293307,p.E501K	protein_coding	uc003ciq.3	nonsynonymous SNV	exon12	c.G1795A	p.E599K	FDAGQKKTFLSAEYLDEPFRAQRAM	FDAGQKKTFLSAKYLDEPFRAQRAM	1.0	2.0	unscreened	-	4189_3:38791636-38791636 C>T_FDAGQKKTFLSAKYLDEPFRAQRAM
7:39243858-39243858 C>T	0.0	4189	MELANOMA	-	-	-	-	POU6F2	uc003thb.2,p.S72L|ENST00000520104,p.S64L|ENST00000518318,p.S72L|ENST00000524147,p.S64L|ENST00000451021,p.S73L|ENST00000403058,p.S72L|uc022acb.1,p.S72L|NM_001166018,p.S72L|ENST00000559001,p.S64L|NM_007252,p.S72L|uc010kxo.3,p.S64L	protein_coding, processed_transcript, nonsense_mediated_decay	uc022acb.1	nonsynonymous SNV	exon4	c.C215T	p.S72L	SKLFGARGNPALSDPGTPDQHQASQ	SKLFGARGNPALLDPGTPDQHQASQ	1.0	1.0	unscreened	-	4189_7:39243858-39243858 C>T_SKLFGARGNPALLDPGTPDQHQASQ
20:33570300-33570300 G>A	1.0	4189	MELANOMA	-	-	-	-	MYH7B	uc002xbi.2,p.R231Q|NM_020884,p.R231Q|ENST00000262873,p.R231Q	retained_intron, protein_coding, processed_transcript	uc002xbi.2	nonsynonymous SNV	exon10	c.G692A	p.R231Q	GESGAGKTVNTKRVIQYFAIVAALG	GESGAGKTVNTKQVIQYFAIVAALG	2.0	2.0	-	-	4189_20:33570300-33570300 G>A_GESGAGKTVNTKQVIQYFAIVAALG
1:175372453-175372453 G>A	0.0	4189	MELANOMA	-	-	-	-	TNR	uc010pmz.1,p.P267S|NM_003285,p.P267S|uc001gkp.1,p.P267S|ENST00000367674,p.P267S|uc009wwu.1,p.P267S|ENST00000263525,p.P267S	protein_coding	uc010pmz.1	nonsynonymous SNV	exon4	c.C799T	p.P267S	PYTGEDCRELRCPGDCSGKGRCANG	PYTGEDCRELRCSGDCSGKGRCANG	2.0	1.0	unscreened	-	4189_1:175372453-175372453 G>A_PYTGEDCRELRCSGDCSGKGRCANG
19:46177339-46177339 G>A	0.0	4189	MELANOMA	-	-	-	-	GIPR	uc010xxp.1,p.R95K|NM_000164,p.R131K|uc002pct.1,p.R131K|ENST00000585889,p.R131K|ENST00000304207,p.R95K|ENST00000263281,p.R131K|ENST00000590918,p.R131K|uc002pcu.1,p.R131K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xxp.1	nonsynonymous SNV	exon5	c.G284A	p.R95K	ENPEKNEAFLDQRLILERLQVMYTV	ENPEKNEAFLDQKLILERLQVMYTV	4.0	2.0	unscreened	-	4189_19:46177339-46177339 G>A_ENPEKNEAFLDQKLILERLQVMYTV
10:85974178-85974178 T>C	0.0	4189	MELANOMA	-	-	-	-	CDHR1	NM_033100,p.L794P|uc009xst.3,p.L498P|ENST00000440770,p.L498P|uc001kcx.3,p.L108P|uc001kcv.3,p.L794P|ENST00000372117,p.L794P	protein_coding, processed_transcript	uc009xst.3	nonsynonymous SNV	exon10	c.T1493C	p.L498P	SPESSLLPRAPALPPPPSVAPSTGA	SPESSLLPRAPAPPPPPSVAPSTGA	1.0	9.0	unscreened	-	4189_10:85974178-85974178 T>C_SPESSLLPRAPAPPPPPSVAPSTGA
17:38975137-38975137 ->CCGCCGCCGTAT	0.0	4189	MELANOMA	-	-	-	-	KRT10	NM_000421,p.G550delinsGYGGG|ENST00000269576,p.G550delinsGYGGG|uc002hvi.3,p.G550delinsGYGGG	protein_coding	uc002hvi.3	nonframeshift insertion	exon7	c.1649_1650insATACGGCGGCGG	p.G550delinsGYGGG	GGGGYGGGSSGGGSSSGGGYGGGSS	GGGGYGGGSSGGGYGGGSSSGGGYG	7.0	1.0	unscreened	-	4189_17:38975137-38975137 ->CCGCCGCCGTAT_GGGGYGGGSSGGGYGGGSSSGGGYG
16:31405656-31405656 G>A	1.0	4189	MELANOMA	-	-	-	-	ITGAD	ENST00000389202,p.G44E|NM_005353,p.G44E|uc002ebv.1,p.G44E|uc010cap.1,p.G44E|uc010vfl.1,p.G44E	retained_intron, protein_coding	uc010vfl.1	nonsynonymous SNV	exon2	c.G131A	p.G44E	AGGFGQSVVQFGGSRLVVGAPLEVV	AGGFGQSVVQFGESRLVVGAPLEVV	1.0	3.0	-	-	4189_16:31405656-31405656 G>A_AGGFGQSVVQFGESRLVVGAPLEVV
3:51400040-51400040 C>T	0.0	4189	MELANOMA	-	-	-	-	DOCK3	NM_004947,p.S1743F|uc011bds.2,p.S1743F|ENST00000266037,p.S1743F	protein_coding	uc011bds.2	nonsynonymous SNV	exon49	c.C5228T	p.S1743F	SVLSSSQASPSSSSLSSTHSAPSQM	SVLSSSQASPSSFSLSSTHSAPSQM	2.0	6.0	unscreened	-	4189_3:51400040-51400040 C>T_SVLSSSQASPSSFSLSSTHSAPSQM
2:196673545-196673545 G>A	0.0	4189	MELANOMA	-	-	-	-	DNAH7	uc002utj.4,p.P3315L|NM_018897,p.P3315L|ENST00000312428,p.P3315L	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon53	c.C9944T	p.P3315L	RFLLTGGIGLDNPYANLCTWLPQKS	RFLLTGGIGLDNLYANLCTWLPQKS	2.0	3.0	unscreened	-	4189_2:196673545-196673545 G>A_RFLLTGGIGLDNLYANLCTWLPQKS
12:52942524-52942524 C>T	0.0	4189	MELANOMA	-	-	-	-	KRT71	ENST00000267119,p.M258I|uc001sao.3,p.M258I|NM_033448,p.M258I	protein_coding	uc001sao.3	nonsynonymous SNV	exon4	c.G774A	p.M258I	ANKVELQAKVESMDQEIKFFRCLFE	ANKVELQAKVESIDQEIKFFRCLFE	1.0	5.0	unscreened	-	4189_12:52942524-52942524 C>T_ANKVELQAKVESIDQEIKFFRCLFE
15:81274493-81274493 G>A	1.0	4189	MELANOMA	-	-	-	-	MESDC2	ENST00000261758,p.P82S|NM_015154,p.P82S|uc002bfy.1,p.P82S|ENST00000561312,p.P82S	protein_coding, processed_transcript, nonsense_mediated_decay	uc002bfy.1	nonsynonymous SNV	exon2	c.C244T	p.P82S	WEKDDDIEEGDLPEHKRPSAPVDFS	WEKDDDIEEGDLSEHKRPSAPVDFS	9.0	9.0	-	-	4189_15:81274493-81274493 G>A_WEKDDDIEEGDLSEHKRPSAPVDFS
22:19434915-19434915 T>C	1.0	4189	MELANOMA	-	-	-	-	C22orf39	ENST00000399562,p.N60D|uc002zpk.2,p.N97D|ENST00000333059,p.N97D|NM_173793,p.N97D	protein_coding, processed_transcript, nonsense_mediated_decay	uc002zpk.2	nonsynonymous SNV	exon2	c.A289G	p.N97D	DLASCRDWEERRNAEAQQSLCESER	DLASCRDWEERRDAEAQQSLCESER	8.0	7.0	-	-	4189_22:19434915-19434915 T>C_DLASCRDWEERRDAEAQQSLCESER
14:38679623-38679623 G>A	0.0	4189	MELANOMA	-	-	-	-	SSTR1	uc021rsi.1,p.M343I|uc001wul.1,p.M343I|NM_001049,p.M343I|ENST00000267377,p.M343I	protein_coding	uc021rsi.1	nonsynonymous SNV	exon1	c.G1029A	p.M343I	KRSFQRILCLSWMDNAAEEPVDYYA	KRSFQRILCLSWIDNAAEEPVDYYA	1.0	9.0	unscreened	-	4189_14:38679623-38679623 G>A_KRSFQRILCLSWIDNAAEEPVDYYA
4:46067427-46067427 G>A	0.0	4189	MELANOMA	-	-	-	-	GABRG1	ENST00000295452,p.R166C|NM_173536,p.R166C|uc003gxb.3,p.R166C	protein_coding	uc003gxb.3	nonsynonymous SNV	exon4	c.C496T	p.R166C	RKSDAHWITTPNRLLRIWNDGRVLY	RKSDAHWITTPNCLLRIWNDGRVLY	1.0	5.0	unscreened	-	4189_4:46067427-46067427 G>A_RKSDAHWITTPNCLLRIWNDGRVLY
12:56845090-56845090 C>G	0.0	4189	MELANOMA	-	-	-	-	MIP	ENST00000257979,p.V256L|uc001slh.3,p.V256L|NM_012064,p.V256L	protein_coding, processed_transcript, ambiguous_orf	uc001slh.3	nonsynonymous SNV	exon4	c.G766C	p.V256L	VSNGQPEVTGEPVELNTQAL	VSNGQPEVTGEPLELNTQAL	1.0	4.0	unscreened	-	4189_12:56845090-56845090 C>G_VSNGQPEVTGEPLELNTQAL
22:18723551-18723551 C>T	0.0	4189	MELANOMA	-	rs685313	ID=COSM1733585;OCCURENCE=1(pancreas)	-	USP18,GGT3P	ENST00000342888,p.S12L|uc011agn.2,p.S12L	protein_coding	uc011agn.2	nonsynonymous SNV	exon2	c.C35T	p.S12L	MGNLCGCIQGDSKKPSKKRVKRKP	MGNLCGCIQGDLKKPSKKRVKRKP	1.0	7.0	unscreened	-	4189_22:18723551-18723551 C>T_MGNLCGCIQGDLKKPSKKRVKRKP
6:4074868-4074868 C>T	0.0	4189	MELANOMA	-	-	-	-	FAM217A	uc003mvx.3,p.E30K|ENST00000274673,p.E30K|NM_173563,p.E30K	protein_coding, processed_transcript	uc003mvx.3	nonsynonymous SNV	exon3	c.G88A	p.E30K	SQENLSHWNLDSEVPVSENKNLPAG	SQENLSHWNLDSKVPVSENKNLPAG	1.0	3.0	unscreened	-	4189_6:4074868-4074868 C>T_SQENLSHWNLDSKVPVSENKNLPAG
12:50497868-50497868 G>A	0.0	4189	MELANOMA	-	-	-	-	GPD1	ENST00000301149,p.G12E|NM_005276,p.G12E|uc001rwa.4,p.G12E|uc010smp.2,p.G12E|ENST00000548814,p.G12E|NM_001257199,p.G12E|uc001rvz.4,p.G12E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010smp.2	nonsynonymous SNV	exon1	c.G35A	p.G12E	MASKKVCIVGSGNWGSAIAKIVGG	MASKKVCIVGSENWGSAIAKIVGG	2.0	4.0	unscreened	-	4189_12:50497868-50497868 G>A_MASKKVCIVGSENWGSAIAKIVGG
1:43649464-43649464 G>A	0.0	4189	MELANOMA	-	-	-	-	CFAP57	ENST00000528956,p.G226E|NM_001195831,p.G226E|NM_152498,p.G226E|uc001cip.2,p.G226E|ENST00000372492,p.G226E|uc021omk.1,p.G226E|uc001ciq.2,p.G226E|NM_001167965,p.G226E|uc010ojz.2,p.G215E	retained_intron, protein_coding, nonsense_mediated_decay	uc021omk.1	nonsynonymous SNV	exon4	c.G677A	p.G226E	GTDTGKLFLFESGDQRWETSIMVKE	GTDTGKLFLFESEDQRWETSIMVKE	4.0	2.0	unscreened	-	4189_1:43649464-43649464 G>A_GTDTGKLFLFESEDQRWETSIMVKE
1:233515033-233515033 G>A	0.0	4189	MELANOMA	-	-	-	-	KIAA1804	NM_032435,p.E761K|ENST00000366624,p.E761K|ENST00000366622,p.E207K|uc001hvu.4,p.E207K|uc001hvt.4,p.E761K	protein_coding	uc001hvu.4	nonsynonymous SNV	exon3	c.G619A	p.E207K	EEPLPKEEKKKREGIFQRASKSRRS	EEPLPKEEKKKRKGIFQRASKSRRS	3.0	2.0	unscreened	-	4189_1:233515033-233515033 G>A_EEPLPKEEKKKRKGIFQRASKSRRS
12:71531834-71531834 G>A	0.0	4189	MELANOMA	0.0005	-	ID=COSM109654;OCCURENCE=1(skin)	-	TSPAN8	uc001swj.1,p.R115C|ENST00000393330,p.R115C|NM_004616,p.R115C|uc009zrt.1,p.R115C|ENST00000552128,p.R32C|ENST00000546561,p.R115C|ENST00000247829,p.R115C|uc001swk.1,p.R115C	retained_intron, protein_coding, processed_transcript	uc009zrt.1	nonsynonymous SNV	exon5	c.C343T	p.R115C	GILGAVFKSKSDRIVNETLYENTKL	GILGAVFKSKSDCIVNETLYENTKL	1.0	2.0	unscreened	-	4189_12:71531834-71531834 G>A_GILGAVFKSKSDCIVNETLYENTKL
12:80735772-80735772 G>A	0.0	4189	MELANOMA	-	-	-	-	OTOGL	ENST00000458043,p.G1690S|ENST00000547103,p.G1678S|NM_173591,p.G1690S|uc001szd.3,p.G1690S	protein_coding, nonsense_mediated_decay	uc001szd.3	nonsynonymous SNV	exon43	c.G5068A	p.G1690S	NEDPDDDLRMQNGTIITNMEDIGLF	NEDPDDDLRMQNSTIITNMEDIGLF	1.0	5.0	unscreened	-	4189_12:80735772-80735772 G>A_NEDPDDDLRMQNSTIITNMEDIGLF
3:130290099-130290099 G>A	0.0	4189	MELANOMA	-	-	-	-	COL6A6	NM_001102608,p.G947R|ENST00000453409,p.G947R|ENST00000358511,p.G947R|uc010htl.3,p.G947R	protein_coding, nonsense_mediated_decay	uc010htl.3	nonsynonymous SNV	exon6	c.G2839A	p.G947R	ALRDKGILVLAVGIDGANPVELLAM	ALRDKGILVLAVRIDGANPVELLAM	1.0	3.0	unscreened	-	4189_3:130290099-130290099 G>A_ALRDKGILVLAVRIDGANPVELLAM
4:3494635-3494635 G>A	0.0	4189	MELANOMA	-	-	-	-	DOK7	ENST00000340083,p.G308R|uc003ghd.3,p.G308R|NM_001301071,p.G308R|NM_173660,p.G308R|ENST00000389653,p.G308R	retained_intron, protein_coding, processed_transcript	uc003ghd.3	nonsynonymous SNV	exon7	c.G922A	p.G308R	QEGPRPAAAQAAGEAMVGASRPPPK	QEGPRPAAAQAAREAMVGASRPPPK	3.0	5.0	unscreened	-	4189_4:3494635-3494635 G>A_QEGPRPAAAQAAREAMVGASRPPPK
19:53770411-53770411 C>T	0.0	4189	MELANOMA	-	-	-	-	VN1R4	uc010ydu.2,p.G170R|NM_173857,p.G170R|ENST00000311170,p.G170R	protein_coding	uc010ydu.2	nonsynonymous SNV	exon1	c.G508A	p.G170R	ITVNEDLGYCSGGGNNKIAQTLRAM	ITVNEDLGYCSGRGNNKIAQTLRAM	1.0	1.0	unscreened	-	4189_19:53770411-53770411 C>T_ITVNEDLGYCSGRGNNKIAQTLRAM
19:42814313-42814313 C>T	0.0	4189	MELANOMA	-	-	-	-	PRR19	uc002oth.1,p.R193W|ENST00000598490,p.R193W	protein_coding	uc002oth.1	nonsynonymous SNV	exon2	c.C577T	p.R193W	CHGCVPDLALVLRGCQPPLPGERPS	CHGCVPDLALVLWGCQPPLPGERPS	1.0	7.0	unscreened	-	4189_19:42814313-42814313 C>T_CHGCVPDLALVLWGCQPPLPGERPS
19:42814313-42814313 C>T	0.0	4189	MELANOMA	-	-	-	-	PRR19	ENST00000341747,p.R193W|NM_199285,p.R193W|ENST00000499536,p.R193W|ENST00000595750,p.R193W|uc002otj.3,p.R193W|uc002oti.3,p.R193W	protein_coding	uc002otj.3	nonsynonymous SNV	exon1	c.C577T	p.R193W	CHGCVPDLALVLRGCQPPLPGAKPG	CHGCVPDLALVLWGCQPPLPGAKPG	1.0	7.0	unscreened	-	4189_19:42814313-42814313 C>T_CHGCVPDLALVLWGCQPPLPGAKPG
3:12859191-12859191 G>T	0.0	4189	MELANOMA	-	-	-	-	CAND2	uc003bxj.2,p.E827D|ENST00000295989,p.E827D|NM_012298,p.E827D|ENST00000456430,p.E920D|NM_001162499,p.E920D|uc003bxk.2,p.E920D	protein_coding, processed_transcript, nonsense_mediated_decay	uc003bxk.2	nonsynonymous SNV	exon10	c.G2760T	p.E920D	PRRQYLLLHSLREALGAAQPDSLKP	PRRQYLLLHSLRDALGAAQPDSLKP	4.0	3.0	unscreened	-	4189_3:12859191-12859191 G>T_PRRQYLLLHSLRDALGAAQPDSLKP
16:31437411-31437411 G>A	0.0	4189	MELANOMA	-	-	-	-	ITGAD	ENST00000389202,p.D1150N|uc010cap.1,p.D1151N|uc002ebv.1,p.D1150N|NM_005353,p.D1150N	retained_intron, protein_coding	uc010cap.1	nonsynonymous SNV	exon30	c.G3451A	p.D1151N	DKPEDTATFSGDDFSCVAPNVPLS	DKPEDTATFSGDNFSCVAPNVPLS	1.0	5.0	-	-	4189_16:31437411-31437411 G>A_DKPEDTATFSGDNFSCVAPNVPLS
6:56484185-56484185 T>G	1.0	4189	MELANOMA	-	-	-	-	DST	ENST00000370765,p.K1549N|NM_001723,p.K1549N|uc003pdc.4,p.K1549N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pdc.4	nonsynonymous SNV	exon23	c.A4647C	p.K1549N	SHEQLLQNIKAEKENNDKIQRLNEE	SHEQLLQNIKAENENNDKIQRLNEE	10.0	4.0	-	-	4189_6:56484185-56484185 T>G_SHEQLLQNIKAENENNDKIQRLNEE
1:152127444-152127444 G>A	0.0	4189	MELANOMA	-	-	-	-	RPTN	NM_001122965,p.H711Y|ENST00000316073,p.H711Y|uc001ezs.1,p.H711Y	protein_coding	uc001ezs.1	nonsynonymous SNV	exon3	c.C2131T	p.H711Y	EGLSHWAEEEQGHQTWDRHSHESQE	EGLSHWAEEEQGYQTWDRHSHESQE	1.0	2.0	unscreened	-	4189_1:152127444-152127444 G>A_EGLSHWAEEEQGYQTWDRHSHESQE
18:3126773-3126773 G>A	0.0	4189	MELANOMA	-	-	-	-	MYOM1	uc002klp.3,p.R973C|ENST00000356443,p.R973C|NM_003803,p.R973C|ENST00000261606,p.R877C|NM_019856,p.R877C|ENST00000400569,p.R973C|uc002klq.3,p.R877C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002klq.3	nonsynonymous SNV	exon18	c.C2629T	p.R877C	GGAEITGYYVNYREVIDGVPGKWRE	GGAEITGYYVNYCEVIDGVPGKWRE	5.0	7.0	unscreened	-	4189_18:3126773-3126773 G>A_GGAEITGYYVNYCEVIDGVPGKWRE
20:43379423-43379423 G>A	0.0	4189	MELANOMA	-	-	-	-	KCNK15	NM_022358,p.G313R|uc002xmr.3,p.G313R|ENST00000372861,p.G313R	protein_coding	uc002xmr.3	nonsynonymous SNV	exon2	c.G937A	p.G313R	RDNLGFSPPSSPGVVRGGQAPRLGA	RDNLGFSPPSSPRVVRGGQAPRLGA	3.0	6.0	-	-	4189_20:43379423-43379423 G>A_RDNLGFSPPSSPRVVRGGQAPRLGA
6:32117436-32117436 C>T	0.0	4189	MELANOMA	-	-	-	-	PRRT1	NM_030651,p.G208S|ENST00000375152,p.G127S|ENST00000375150,p.G127S|uc003nzt.3,p.G208S|uc003nzs.3,p.G249S|ENST00000211413,p.G208S	retained_intron, protein_coding, processed_transcript	uc003nzt.3	nonsynonymous SNV	exon3	c.G622A	p.G208S	TGVTSTLPPPPQGPGLALLEPRRPP	TGVTSTLPPPPQSPGLALLEPRRPP	5.0	6.0	-	-	4189_6:32117436-32117436 C>T_TGVTSTLPPPPQSPGLALLEPRRPP
12:319043-319043 C>T	0.0	4189	MELANOMA	-	-	-	-	SLC6A12	uc001qia.3,p.G37D|NM_001122848,p.G37D|ENST00000424061,p.G37D|NM_003044,p.G37D|ENST00000428720,p.G37D|ENST00000536824,p.G37D|uc001qib.3,p.G37D|uc001qhz.3,p.G37D|NM_001206931,p.G37D|ENST00000359674,p.G37D|ENST00000537793,p.G37D|uc009zdh.2,p.G37D|NM_001122847,p.G37D|ENST00000397296,p.G37D	retained_intron, protein_coding, processed_transcript	uc009zdh.2	nonsynonymous SNV	exon2	c.G110A	p.G37D	LDQEDEDQVKDRGQWTNKMEFVLSV	LDQEDEDQVKDRDQWTNKMEFVLSV	5.0	3.0	-	-	4189_12:319043-319043 C>T_LDQEDEDQVKDRDQWTNKMEFVLSV
9:114490224-114490224 T>G	0.0	4189	MELANOMA	-	-	-	-	C9orf84	ENST00000394777,p.E405A|NM_173521,p.E444A|ENST00000374287,p.E444A|uc004bfr.3,p.E444A|uc004bfq.3,p.E405A|ENST00000318737,p.E444A|ENST00000394779,p.E405A|uc010mug.4,p.E405A|NM_001080551,p.E405A	protein_coding	uc010mug.4	nonsynonymous SNV	exon9	c.A1214C	p.E405A	LSLPQKSPSLAKEVPDLCFSDDYFS	LSLPQKSPSLAKAVPDLCFSDDYFS	2.0	6.0	unscreened	-	4189_9:114490224-114490224 T>G_LSLPQKSPSLAKAVPDLCFSDDYFS
4:71255531-71255531 C>T	0.0	4189	MELANOMA	-	-	-	-	SMR3B	uc003hfh.3,p.P69L|uc011cas.2,p.P69L|ENST00000304915,p.P69L|ENST00000504825,p.P69L|NM_006685,p.P69L	retained_intron, protein_coding	uc011cas.2	nonsynonymous SNV	exon3	c.C206T	p.P69L	GRIPPPPPAPYGPGIFPPPPPQP	GRIPPPPPAPYGLGIFPPPPPQP	1.0	4.0	unscreened	-	4189_4:71255531-71255531 C>T_GRIPPPPPAPYGLGIFPPPPPQP
4:70615507-70615507 G>A	0.0	4189	MELANOMA	-	-	-	-	SULT1B1	uc003hen.3,p.P103S|ENST00000310613,p.P103S|NM_014465,p.P103S|ENST00000510821,p.P103S	protein_coding	uc003hen.3	nonsynonymous SNV	exon4	c.C307T	p.P103S	TSGIEQLEKNPSPRIVKTHLPTDLL	TSGIEQLEKNPSSRIVKTHLPTDLL	2.0	4.0	unscreened	-	4189_4:70615507-70615507 G>A_TSGIEQLEKNPSSRIVKTHLPTDLL
12:65269071-65269071 G>A	0.0	4189	MELANOMA	-	-	-	-	TBC1D30	uc001ssi.2,p.E597K|uc010sss.2,p.E555K|ENST00000539867,p.E597K|NM_015279,p.E597K|uc010sst.2,p.E597K|ENST00000229088,p.E760K|ENST00000542120,p.E483K|uc001ssh.2,p.E483K	protein_coding, processed_transcript	uc010sst.2	nonsynonymous SNV	exon12	c.G1789A	p.E597K	CGDTVGLIDEQNEASKTNGLGAAEA	CGDTVGLIDEQNKASKTNGLGAAEA	4.0	4.0	unscreened	-	4189_12:65269071-65269071 G>A_CGDTVGLIDEQNKASKTNGLGAAEA
8:2910005-2910005 C>T	0.0	4189	MELANOMA	-	-	-	-	CSMD1	ENST00000602723,p.G2548R|ENST00000537824,p.G2547R|ENST00000520002,p.G2548R|ENST00000400186,p.G2548R|ENST00000602557,p.G2548R|NM_033225,p.G2547R|uc010lrg.3,p.G616R|uc022aqr.1,p.G2547R|uc011kwj.2,p.G1877R|ENST00000542608,p.G2547R	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon50	c.G7639A	p.G2547R	AVCQEDGLWSNKGKPPTCKPVACPS	AVCQEDGLWSNKRKPPTCKPVACPS	2.0	1.0	unscreened	-	4189_8:2910005-2910005 C>T_AVCQEDGLWSNKRKPPTCKPVACPS
16:337093-337093 G>A	0.0	4189	MELANOMA	-	-	-	-	PDIA2	NM_006849,p.G520R|uc002cgo.1,p.G520R|ENST00000404312,p.G517R|ENST00000219406,p.G520R|uc010bqt.1,p.G365R|uc002cgn.1,p.G520R|ENST00000435833,p.G149R	retained_intron, protein_coding, processed_transcript	uc010bqt.1	nonsynonymous SNV	exon10	c.G1093A	p.G365R	APFPEPPANSTMGSKEEL	APFPEPPANSTMRSKEEL	1.0	8.0	unscreened	-	4189_16:337093-337093 G>A_APFPEPPANSTMRSKEEL
4:3494636-3494636 G>A	0.0	4189	MELANOMA	-	-	-	-	DOK7	NM_173660,p.G308E|uc003ghd.3,p.G308E|ENST00000340083,p.G308E|NM_001301071,p.G308E|ENST00000389653,p.G308E	retained_intron, protein_coding, processed_transcript	uc003ghd.3	nonsynonymous SNV	exon7	c.G923A	p.G308E	QEGPRPAAAQAAGEAMVGASRPPPK	QEGPRPAAAQAAEEAMVGASRPPPK	3.0	4.0	unscreened	-	4189_4:3494636-3494636 G>A_QEGPRPAAAQAAEEAMVGASRPPPK
7:94033884-94033884 G>A	0.0	4189	MELANOMA	-	-	-	-	COL1A2	NM_000089,p.R99K|ENST00000297268,p.R99K|uc003ung.1,p.R99K|uc011kib.1,p.R99K	retained_intron, protein_coding	uc011kib.1	nonsynonymous SNV	exon7	c.G296A	p.R99K	GLGPGPMGLMGPRGPPGAAGAPGPQ	GLGPGPMGLMGPKGPPGAAGAPGPQ	10.0	4.0	-	-	4189_7:94033884-94033884 G>A_GLGPGPMGLMGPKGPPGAAGAPGPQ
4:128627774-128627774 C>T	0.0	4189	MELANOMA	-	-	ID=COSM1694994;OCCURENCE=1(skin)	-	INTU	ENST00000335251,p.R641C|uc003ifk.2,p.R641C|NM_015693,p.R641C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ifk.2	nonsynonymous SNV	exon12	c.C1921T	p.R641C	KTTLHQLDGVDSRIDERLASSPVPC	KTTLHQLDGVDSCIDERLASSPVPC	5.0	4.0	unscreened	-	4189_4:128627774-128627774 C>T_KTTLHQLDGVDSCIDERLASSPVPC
2:210791684-210791684 G>A	0.0	4189	MELANOMA	-	-	-	-	UNC80	ENST00000272845,p.G1856D|uc010zjc.1,p.G1861D|uc021vvx.1,p.G1856D|NM_182587,p.G1856D|NM_032504,p.G1861D|uc002vdk.2,p.G1022D|ENST00000439458,p.G1861D	retained_intron, protein_coding, processed_transcript	uc021vvx.1	nonsynonymous SNV	exon35	c.G5567A	p.G1856D	AAVLPIVHLMEDGEVREDGVAVSAV	AAVLPIVHLMEDDEVREDGVAVSAV	2.0	3.0	unscreened	-	4189_2:210791684-210791684 G>A_AAVLPIVHLMEDDEVREDGVAVSAV
8:131792667-131792667 G>C	0.0	4189	MELANOMA	-	-	-	-	ADCY8	uc010mds.3,p.A1111G|NM_001115,p.A1242G|ENST00000286355,p.A1242G|uc003ytd.4,p.A1242G|ENST00000377928,p.A1111G	protein_coding	uc010mds.3	nonsynonymous SNV	exon15	c.C3332G	p.A1111G	LLSPSGTEPGAQAEGTDKSDLP	LLSPSGTEPGAQGEGTDKSDLP	1.0	4.0	unscreened	-	4189_8:131792667-131792667 G>C_LLSPSGTEPGAQGEGTDKSDLP
12:50497868-50497868 G>A	0.0	4189	MELANOMA	-	-	-	-	GPD1	ENST00000547964,p.G12E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000547964	nonsynonymous SNV	exon1	c.G35A	p.G12E	MASKKVCIVGSGNWSLGTICHGSG	MASKKVCIVGSENWSLGTICHGSG	2.0	4.0	unscreened	-	4189_12:50497868-50497868 G>A_MASKKVCIVGSENWSLGTICHGSG
20:30408054-30408054 G>A	0.0	4189	MELANOMA	-	-	-	-	MYLK2	NM_033118,p.E60K|ENST00000375985,p.E60K|uc002wwq.2,p.E60K|ENST00000375994,p.E60K	protein_coding, processed_transcript	uc002wwq.2	nonsynonymous SNV	exon3	c.G178A	p.E60K	PTLKKDAKAPASEKGDGTLAQPSTS	PTLKKDAKAPASKKGDGTLAQPSTS	1.0	6.0	unscreened	-	4189_20:30408054-30408054 G>A_PTLKKDAKAPASKKGDGTLAQPSTS
2:219691995-219691995 C>T	0.0	4189	MELANOMA	-	-	-	-	PRKAG3	uc010fvy.1,p.A368T|ENST00000470307,p.A311T|ENST00000392098,p.A311T	retained_intron, protein_coding, nonsense_mediated_decay	uc010fvy.1	nonsynonymous SNV	exon8	c.G1102A	p.A368T	CQATYSTSSHTNACSSSCTSLVPCC	CQATYSTSSHTNTCSSSCTSLVPCC	1.0	4.0	unscreened	-	4189_2:219691995-219691995 C>T_CQATYSTSSHTNTCSSSCTSLVPCC
8:145577750-145577750 G>A	0.0	4189	MELANOMA	-	-	-	-	TMEM249	NM_001252404,p.R71C|ENST00000526263,p.R71C|uc010mfw.3,p.R71C	retained_intron, protein_coding	uc010mfw.3	nonsynonymous SNV	exon2	c.C211T	p.R71C	LPRVRRGRGPVARDLVAAAAPPGAE	LPRVRRGRGPVACDLVAAAAPPGAE	2.0	6.0	unscreened	-	4189_8:145577750-145577750 G>A_LPRVRRGRGPVACDLVAAAAPPGAE
17:32683598-32683598 A>G	0.0	4189	MELANOMA	-	-	-	-	CCL13	ENST00000225844,p.N18S|NM_005408,p.N18S|uc002hic.3,p.N18S	protein_coding	uc002hic.3	nonsynonymous SNV	exon1	c.A53G	p.N18S	VLLCLLLMTAAFNPQGLAQPDALNV	VLLCLLLMTAAFSPQGLAQPDALNV	4.0	5.0	unscreened	-	4189_17:32683598-32683598 A>G_VLLCLLLMTAAFSPQGLAQPDALNV
2:201468035-201468035 G>A	0.0	4189	MELANOMA	-	-	-	-	AOX1	NM_001159,p.D182N|ENST00000374700,p.D182N|uc002uvx.3,p.D182N	retained_intron, protein_coding, processed_transcript	uc002uvx.3	nonsynonymous SNV	exon7	c.G544A	p.D182N	CCQSKENGVCCLDQGINGLPEFEEG	CCQSKENGVCCLNQGINGLPEFEEG	5.0	6.0	-	-	4189_2:201468035-201468035 G>A_CCQSKENGVCCLNQGINGLPEFEEG
15:54305853-54305853 G>T	0.0	4189	MELANOMA	-	-	ID=COSM555535,COSM555536;OCCURENCE=1(lung)	-	UNC13C	NM_001080534,p.Q251H|ENST00000537900,p.Q251H|uc021sms.1,p.Q251H|ENST00000545554,p.Q251H|ENST00000260323,p.Q251H|uc021smr.1,p.Q251H	retained_intron, protein_coding	uc021sms.1	nonsynonymous SNV	exon1	c.G753T	p.Q251H	THDVMEMIFKELQGISQIETELSEL	THDVMEMIFKELHGISQIETELSEL	2.0	4.0	unscreened	-	4189_15:54305853-54305853 G>T_THDVMEMIFKELHGISQIETELSEL
6:32117436-32117436 C>T	0.0	4189	MELANOMA	-	-	-	-	PRRT1	uc003nzu.3,p.G100E	retained_intron, protein_coding, processed_transcript	uc003nzu.3	nonsynonymous SNV	exon5	c.G299A	p.G100E	NRSDLHSPPAAPGPRAGPTGAEAPA	NRSDLHSPPAAPEPRAGPTGAEAPA	5.0	6.0	-	-	4189_6:32117436-32117436 C>T_NRSDLHSPPAAPEPRAGPTGAEAPA
17:7578406-7578406 C>T	1.0	4196	COLON	-	-	ID=COSM3355994,COSM1640851,COSM99024,COSM99023,COSM10648,COSM99914,COSM99022;OCCURENCE=4(skin),97(breast),9(biliary_tract),321(large_intestine),4(prostate),4(kidney),9(liver),22(pancreas),28(urinary_tract),1(adrenal_gland),65(ovary),1(soft_tissue),9(endometrium),2(salivary_gland),1(penis),18(lung),2(thyroid),35(haematopoietic_and_lymphoid_tissue),4(cervix),62(stomach),70(central_nervous_system),80(oesophagus),2(vulva),3(bone),51(upper_aerodigestive_tract)	1	TP53	NM_001126118,p.R136H|ENST00000420246,p.R175H|NM_001126112,p.R175H|uc010vug.3,p.R136H|ENST00000455263,p.R175H|ENST00000445888,p.R175H|uc002gio.3,p.R43H|ENST00000413465,p.R175H|NM_001126114,p.R175H|uc002gin.3,p.R82H|NM_001276760,p.R136H|uc010cnf.2,p.R16H|NM_001126115,p.R43H|uc010cng.2,p.R16H|NM_001126117,p.R43H|NM_001276699,p.R16H|uc002gig.1,p.R175H|NM_001276698,p.R16H|NM_000546,p.R175H|uc002gij.3,p.R136H|ENST00000514944,p.R82H|NM_001276761,p.R136H|ENST00000509690,p.R43H|NM_001126116,p.R43H|NM_001126113,p.R175H|NM_001276697,p.R16H|ENST00000269305,p.R175H|NM_001276695,p.R136H|uc002gih.3,p.R175H|ENST00000359597,p.R175H|NM_001276696,p.R136H|uc002gii.2,p.R16H|uc031qyq.1,p.R136H	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon4	c.G407A	p.R136H	YKQSQHMTEVVRRCPHHERCSDSDG	YKQSQHMTEVVRHCPHHERCSDSDG	10.0	10.0	CD8	-	4196_17:7578406-7578406 C>T_YKQSQHMTEVVRHCPHHERCSDSDG
2:97007795-97007795 G>T	1.0	4196	COLON	-	-	-	-	NCAPH	uc002svz.1,p.D94Y|NM_015341,p.D94Y|ENST00000240423,p.D94Y|ENST00000455200,p.D83Y|uc010fhv.1,p.D83Y|ENST00000435975,p.D83Y|uc010fhu.1,p.D70Y|NM_001281710,p.D83Y|ENST00000456906,p.D94Y|NM_001281711,p.D70Y|uc010yum.1,p.D70Y	retained_intron, protein_coding	uc010yum.1	nonsynonymous SNV	exon3	c.G208T	p.D70Y	PRLLASPSSRSIDISATIPKFTNTQ	PRLLASPSSRSIYISATIPKFTNTQ	8.0	3.0	unscreened	-	4196_2:97007795-97007795 G>T_PRLLASPSSRSIYISATIPKFTNTQ
10:114912188-114912188 C>T	1.0	4196	COLON	-	-	ID=COSM1560963,COSM1560962,COSM1560964;OCCURENCE=1(large_intestine)	1	TCF7L2	uc010qrm.2,p.R420W|ENST00000538897,p.R420W|uc010qrx.2,p.R277W|uc021pyj.1,p.R420W|ENST00000470254,p.R51W|ENST00000369389,p.R131W|ENST00000545257,p.R420W|ENST00000543371,p.R420W|uc001laf.4,p.R397W|ENST00000536810,p.R420W|uc010qrk.2,p.R397W|ENST00000542695,p.R136W|uc001lac.4,p.R397W|NM_001146286,p.R397W|NM_001198529,p.R397W|NM_001146284,p.R393W|ENST00000355717,p.R444W|NM_001198526,p.R397W|uc021pyg.1,p.R136W|uc021pyi.1,p.R420W|uc001lah.3,p.R402W|ENST00000277945,p.R137W|uc010qrv.2,p.R237W|uc021pyo.1,p.R425W|ENST00000534894,p.R420W|NM_001198530,p.R363W|uc001lag.4,p.R444W|NM_001198531,p.R420W|ENST00000369386,p.R63W|uc010qrt.2,p.R291W|uc010qrr.2,p.R335W|NM_001146283,p.R444W|uc021pyl.1,p.R402W|NM_001198528,p.R397W|uc021pyh.1,p.R402W|ENST00000352065,p.R397W|uc010qru.2,p.R319W|uc021pyp.1,p.R416W|uc010qrq.2,p.R393W|NM_001198527,p.R393W|uc001lad.4,p.R393W|uc010qrp.2,p.R397W|uc021pym.1,p.R393W|ENST00000355995,p.R420W|uc010qrl.2,p.R397W|ENST00000369397,p.R397W|uc021pyk.1,p.R402W|NM_030756,p.R397W|uc010qrn.2,p.R363W|uc010qro.2,p.R397W|uc010qrw.2,p.R124W|NM_001198525,p.R402W|uc021pyn.1,p.R425W|NM_001146274,p.R420W|NM_001146285,p.R397W|uc001lae.4,p.R420W|uc010qrs.2,p.R291W	protein_coding, processed_transcript, nonsense_mediated_decay	uc021pyp.1	nonsynonymous SNV	exon11	c.C1246T	p.R416W	QLHMQLYPGWSARDNYGKKKKRKRD	QLHMQLYPGWSAWDNYGKKKKRKRD	10.0	9.0	-	-	4196_10:114912188-114912188 C>T_QLHMQLYPGWSAWDNYGKKKKRKRD
17:3422064-3422064 C>T	1.0	4196	COLON	-	-	-	-	TRPV3	uc010vrl.2,p.E615K|uc010vrh.2,p.E615K|uc002fvr.3,p.E631K|ENST00000572519,p.E631K|ENST00000301365,p.E631K|uc010vrj.2,p.E615K|ENST00000576742,p.E631K|NM_001258205,p.E631K|uc010vri.2,p.E586K|uc002fvu.3,p.E631K|uc002fvt.2,p.E631K|NM_145068,p.E631K	retained_intron, protein_coding, nonsense_mediated_decay	uc010vrl.2	nonsynonymous SNV	exon14	c.G1843A	p.E615K	CSSYGSFSDAVLELFKLTIGLGDLN	CSSYGSFSDAVLKLFKLTIGLGDLN	6.0	9.0	-	-	4196_17:3422064-3422064 C>T_CSSYGSFSDAVLKLFKLTIGLGDLN
1:154318743-154318743 C>G	1.0	4196	COLON	-	-	-	-	ATP8B2	ENST00000368489,p.L972V|NM_020452,p.L972V|uc001fex.3,p.L972V	retained_intron, protein_coding, processed_transcript	uc001fex.3	nonsynonymous SNV	exon25	c.C2914G	p.L972V	DVPEQRSMEYPKLYEPGQLNLLFNK	DVPEQRSMEYPKVYEPGQLNLLFNK	7.0	9.0	-	-	4196_1:154318743-154318743 C>G_DVPEQRSMEYPKVYEPGQLNLLFNK
11:117784576-117784576 G>A	1.0	4196	COLON	-	-	-	-	TMPRSS13	NM_001077263,p.S242F|uc001pru.2,p.S242F|uc001prs.2,p.S242F|uc021qrc.1,p.S242F|ENST00000528626,p.S207F|ENST00000430170,p.S242F|ENST00000524993,p.S242F|ENST00000526090,p.S242F|ENST00000445164,p.S242F|NM_001206789,p.S207F|NM_001244995,p.S242F|NM_001206790,p.S242F|uc009yzr.2,p.S207F	retained_intron, protein_coding, nonsense_mediated_decay	uc021qrc.1	nonsynonymous SNV	exon5	c.C725T	p.S242F	DWDKSLLKIYSGSSHQWLPICSSNW	DWDKSLLKIYSGFSHQWLPICSSNW	8.0	8.0	-	-	4196_11:117784576-117784576 G>A_DWDKSLLKIYSGFSHQWLPICSSNW
3:13413414-13413414 T>A	1.0	4196	COLON	-	-	-	-	NUP210	NM_024923,p.E569V|uc003bxx.3,p.E241V|ENST00000254508,p.E569V|uc003bxv.1,p.E569V	retained_intron, protein_coding, processed_transcript	uc003bxx.3	nonsynonymous SNV	exon6	c.A722T	p.E241V	LRISGLMPGGASEVVTLSDCSHFDL	LRISGLMPGGASVVVTLSDCSHFDL	9.0	4.0	-	-	4196_3:13413414-13413414 T>A_LRISGLMPGGASVVVTLSDCSHFDL
12:26816658-26816658 C>T	1.0	4196	COLON	-	-	-	-	ITPR2	NM_002223,p.R558H|ENST00000381340,p.R558H|uc001rhg.3,p.R558H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rhg.3	nonsynonymous SNV	exon15	c.G1673A	p.R558H	YAPYKYMLRLCYRVLRHSQQDYRKN	YAPYKYMLRLCYHVLRHSQQDYRKN	9.0	6.0	-	-	4196_12:26816658-26816658 C>T_YAPYKYMLRLCYHVLRHSQQDYRKN
6:105845790-105845790 G>A	1.0	4196	COLON	-	-	-	-	PREP	uc003prc.3,p.H20Y|ENST00000369110,p.H20Y|NM_002726,p.H20Y	protein_coding	uc003prc.3	nonsynonymous SNV	exon2	c.C58T	p.H20Y	DVYRDETAVQDYHGHKICDPYAWLE	DVYRDETAVQDYYGHKICDPYAWLE	10.0	9.0	-	-	4196_6:105845790-105845790 G>A_DVYRDETAVQDYYGHKICDPYAWLE
12:6729913-6729913 G>A	1.0	4196	COLON	-	-	-	-	LPAR5	ENST00000431922,p.R168W|NM_020400,p.R168W|ENST00000329858,p.R168W|uc010sff.1,p.R168W|NM_001142961,p.R168W|uc001qps.2,p.R168W|uc021qub.1,p.R168W|uc009zer.2,p.R168W	protein_coding, processed_transcript	uc021qub.1	nonsynonymous SNV	exon1	c.C502T	p.R168W	AARVHRPSRCRYRDLEVRLCFESFS	AARVHRPSRCRYWDLEVRLCFESFS	6.0	8.0	-	-	4196_12:6729913-6729913 G>A_AARVHRPSRCRYWDLEVRLCFESFS
1:6680026-6680026 A>T	1.0	4196	COLON	-	-	-	-	PHF13	NM_153812,p.K102M|uc001aob.4,p.K102M|ENST00000377648,p.K102M	protein_coding, processed_transcript	uc001aob.4	nonsynonymous SNV	exon3	c.A305T	p.K102M	FSHLQPTLLQRAKPSNFLLDRKKTD	FSHLQPTLLQRAMPSNFLLDRKKTD	6.0	5.0	-	-	4196_1:6680026-6680026 A>T_FSHLQPTLLQRAMPSNFLLDRKKTD
16:3656483-3656483 G>A	1.0	4196	COLON	-	-	-	-	SLX4	NM_032444,p.A251V|uc002cvq.1,p.A251V|ENST00000294008,p.A251V|uc002cvp.2,p.A251V	retained_intron, protein_coding	uc002cvq.1	nonsynonymous SNV	exon3	c.C752T	p.A251V	ENVPKDPQEEMMAGNVYGLGPPAPE	ENVPKDPQEEMMVGNVYGLGPPAPE	7.0	7.0	-	-	4196_16:3656483-3656483 G>A_ENVPKDPQEEMMVGNVYGLGPPAPE
2:31010119-31010119 G>A	1.0	4196	COLON	-	-	-	-	CAPN13	ENST00000458085,p.R25W|ENST00000295055,p.R25W|uc021vfm.1,p.R25W|ENST00000534090,p.R25W|NM_144575,p.R25W|ENST00000485248,p.R25W|uc002rnp.1,p.R25W|uc021vfn.1,p.R25W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vfn.1	nonsynonymous SNV	exon1	c.C73T	p.R25W	IIKFKDQDFTTLRDHCLSMGRTFKD	IIKFKDQDFTTLWDHCLSMGRTFKD	7.0	10.0	-	-	4196_2:31010119-31010119 G>A_IIKFKDQDFTTLWDHCLSMGRTFKD
9:94830331-94830331 T>A	1.0	4196	COLON	-	-	-	-	SPTLC1	ENST00000262554,p.E159D|NM_001281303,p.E159D|NM_006415,p.E159D|uc004arm.1,p.E159D|uc011ltv.1,p.E159D|uc004arl.1,p.E159D	protein_coding, processed_transcript	uc011ltv.1	nonsynonymous SNV	exon6	c.A477T	p.E159D	DLEDRLAKFMKTEEAIIYSYGFATI	DLEDRLAKFMKTDEAIIYSYGFATI	10.0	1.0	unscreened	-	4196_9:94830331-94830331 T>A_DLEDRLAKFMKTDEAIIYSYGFATI
X:123196976-123196976 A>T	1.0	4196	COLON	-	-	-	1	STAG2	uc004eua.3,p.D581V|NM_001282418,p.D581V|uc004euc.3,p.D581V|uc004eue.3,p.D581V|ENST00000354548,p.D512V|NM_001042750,p.D581V|NM_001042751,p.D581V|ENST00000371160,p.D581V|uc004eub.3,p.D581V|uc004etz.4,p.D581V|ENST00000371145,p.D581V|ENST00000218089,p.D581V|ENST00000371157,p.D581V|uc004eud.3,p.D581V|NM_001042749,p.D581V|NM_006603,p.D581V|ENST00000371144,p.D581V	protein_coding, processed_transcript, nonsense_mediated_decay	uc004eue.3	nonsynonymous SNV	exon18	c.A1742T	p.D581V	VALPQLLAKYSVDAEKVTNLLQLPQ	VALPQLLAKYSVVAEKVTNLLQLPQ	10.0	4.0	-	-	4196_X:123196976-123196976 A>T_VALPQLLAKYSVVAEKVTNLLQLPQ
1:11184573-11184573 G>A	1.0	4196	COLON	-	-	ID=COSM1686998;OCCURENCE=1(skin),2(large_intestine)	1	MTOR	uc001asc.3,p.S420F|NM_004958,p.S2215F|ENST00000361445,p.S2215F|ENST00000376838,p.S420F|uc001asd.3,p.S2215F	protein_coding, processed_transcript	uc001asd.3	nonsynonymous SNV	exon47	c.C6644T	p.S2215F	GLVNTLLANDPTSLRKNLSIQRYAV	GLVNTLLANDPTFLRKNLSIQRYAV	8.0	10.0	unscreened	-	4196_1:11184573-11184573 G>A_GLVNTLLANDPTFLRKNLSIQRYAV
6:26091673-26091673 G>-	1.0	4196	COLON	-	-	-	-	HFE	uc003nfz.1,p.A70fs|ENST00000349999,p.A70fs|NM_139009,p.A135fs|uc003nfy.1,p.A135fs|uc003nfx.1,p.A158fs|NM_139007,p.A70fs|ENST00000309234,p.A158fs|ENST00000397022,p.A135fs|ENST00000357618,p.A158fs|NM_001300749,p.A158fs|NM_000410,p.A158fs	retained_intron, protein_coding	uc003nfz.1	frameshift deletion	exon2	c.208delG	p.A70fs	LEFCPDTLDWRAAEPRAWPTKLEWE	LEFCPDTLDWRAQNPGPGPPSWSGKGTRFGPGRTGPTWRGTALHSCSSCWSWGEVFWTNKCLLW	8.0	2.0	unscreened	-	4196_6:26091673-26091673 G>-_LEFCPDTLDWRAQNPGPGPPSWSGKGTRFGPGRTGPTWRGTALHSCSSCWSWGEVFWTNKCLLW
1:11184571-11184571 G>A	1.0	4196	COLON	-	-	-	1	MTOR	uc001asc.3,p.L421F|NM_004958,p.L2216F|ENST00000376838,p.L421F|uc001asd.3,p.L2216F|ENST00000361445,p.L2216F	protein_coding, processed_transcript	uc001asd.3	nonsynonymous SNV	exon47	c.C6646T	p.L2216F	LVNTLLANDPTSLRKNLSIQRYAVI	LVNTLLANDPTSFRKNLSIQRYAVI	8.0	10.0	unscreened	-	4196_1:11184571-11184571 G>A_LVNTLLANDPTSFRKNLSIQRYAVI
4:154709851-154709851 T>G	1.0	4196	COLON	-	-	-	-	SFRP2	uc003inv.1,p.N46T|NM_003013,p.N46T|ENST00000274063,p.N46T	protein_coding	uc003inv.1	nonsynonymous SNV	exon1	c.A137C	p.N46T	SYKRSNCKPIPANLQLCHGIEYQNM	SYKRSNCKPIPATLQLCHGIEYQNM	7.0	5.0	-	-	4196_4:154709851-154709851 T>G_SYKRSNCKPIPATLQLCHGIEYQNM
4:85530645-85530645 C>T	1.0	4196	COLON	0.0009	-	-	-	CDS1	ENST00000511298,p.H61Y	protein_coding, nonsense_mediated_decay	ENST00000511298	nonsynonymous SNV	exon2	c.C181T	p.H61Y	SHSNYDLVVFPDHLYGILHADASCS	SHSNYDLVVFPDYLYGILHADASCS	7.0	10.0	-	-	4196_4:85530645-85530645 C>T_SHSNYDLVVFPDYLYGILHADASCS
6:142764606-142764606 A>G	1.0	4196	COLON	-	-	-	-	GPR126	uc010khf.3,p.K1208R|NM_198569,p.K1236R|NM_001032395,p.K1208R|ENST00000367608,p.K1208R|uc011edv.2,p.K296R|ENST00000367609,p.K1236R|uc010khe.3,p.K1236R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011edv.2	nonsynonymous SNV	exon5	c.A887G	p.K296R	KGYCNAHSDNFYKNIIMSDTFSHST	KGYCNAHSDNFYRNIIMSDTFSHST	8.0	10.0	-	-	4196_6:142764606-142764606 A>G_KGYCNAHSDNFYRNIIMSDTFSHST
7:150935227-150935231 CACCG>-	1.0	4196	COLON	-	-	-	-	CHPF2	uc003wjq.1,p.T585fs|NM_001284295,p.T585fs|uc003wjr.1,p.T593fs|ENST00000035307,p.T593fs|ENST00000495645,p.T585fs|NM_019015,p.T593fs	protein_coding, nonsense_mediated_decay	uc003wjr.1	frameshift deletion	exon4	c.1779_1783del	p.T593fs	SKKHPVDTLFFLTTVWTRPGPEVLN	SKKHPVDTLFFLTVDKAWARSPQPLSHECHLWLAGLLSSPFPGVQSCPVTTEITPRAPGGWP	7.0	4.0	-	-	4196_7:150935227-150935231 CACCG>-_SKKHPVDTLFFLTVDKAWARSPQPLSHECHLWLAGLLSSPFPGVQSCPVTTEITPRAPGGWP
6:100006296-100006296 A>-	1.0	4196	COLON	-	-	-	2	CCNC	uc003pqf.3,p.F141fs|ENST00000482541,p.F141fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pqf.3	frameshift deletion	exon5	c.423delT	p.F141fs	LKKAPEYIDFFFFSL	LKKAPEYIDFFFLVY	10.0	2.0	unscreened	-	4196_6:100006296-100006296 A>-_LKKAPEYIDFFFLVY
X:101971961-101971961 G>T	0.0	4196	COLON	-	-	-	-	ARMCX5-GPRASP2,GPRASP2	ENST00000332262,p.G722W|uc022cbh.1,p.G722W|NM_138437,p.G722W|ENST00000543253,p.G722W|uc022cbg.1,p.G722W|uc022cay.1,p.G722W|NM_001004051,p.G722W|NM_001199818,p.G722W|NM_001184874,p.G722W|uc004ejm.3,p.G722W|NM_001184875,p.G722W|uc022cbe.1,p.G722W|ENST00000535209,p.G722W|uc022cbf.1,p.G722W|NM_001184876,p.G722W|uc004ejl.3,p.G722W|uc004ejk.3,p.G722W	protein_coding, processed_transcript	uc022cbh.1	nonsynonymous SNV	exon1	c.G2164T	p.G722W	IDYHTLIANYMSGFLSLLTTANART	IDYHTLIANYMSWFLSLLTTANART	6.0	7.0	-	-	4196_X:101971961-101971961 G>T_IDYHTLIANYMSWFLSLLTTANART
10:52913081-52913081 G>A	1.0	4196	COLON	-	-	-	-	PRKG1	uc001jjn.2,p.V157I|uc001jjm.3,p.V142I|NM_001098512,p.V142I|NM_006258,p.V157I|uc010qhp.2,p.V142I|ENST00000373985,p.V130I|uc001jjo.3,p.V157I|ENST00000373980,p.V157I|ENST00000373976,p.V15I|ENST00000401604,p.V142I	protein_coding	uc010qhp.2	nonsynonymous SNV	exon2	c.G424A	p.V142I	IIKEGDVGSLVYVMEDGKVEVTKEG	IIKEGDVGSLVYIMEDGKVEVTKEG	7.0	1.0	unscreened	-	4196_10:52913081-52913081 G>A_IIKEGDVGSLVYIMEDGKVEVTKEG
6:26091673-26091673 G>-	1.0	4196	COLON	-	-	-	-	HFE	ENST00000470149,p.A158fs|uc010jqe.1,p.A158fs	retained_intron, protein_coding	uc010jqe.1	frameshift deletion	exon3	c.472delG	p.A158fs	LEFCPDTLDWRAAEPRAWPTKLEWE	LEFCPDTLDWRAQNPGPGPPSWSGKGTRFGPGRTGPTWRGTALHSCSSCWSWGEVFWTNKKEVKVPVFLAR	8.0	2.0	unscreened	-	4196_6:26091673-26091673 G>-_LEFCPDTLDWRAQNPGPGPPSWSGKGTRFGPGRTGPTWRGTALHSCSSCWSWGEVFWTNKKEVKVPVFLAR
10:73337743-73337743 G>A	1.0	4196	COLON	-	-	ID=COSM920110,COSM920111;OCCURENCE=1(endometrium)	-	CDH23	ENST00000398842,p.V276I|uc021psl.1,p.V276I|NM_022124,p.V276I|ENST00000461841,p.V321I|uc001jry.3,p.V276I|uc001jrx.4,p.V276I|uc001jrw.4,p.V276I|ENST00000299366,p.V321I|ENST00000224721,p.V281I|uc009xql.3,p.V276I|uc001jrz.3,p.V276I|NM_052836,p.V276I|NM_001171930,p.V276I|ENST00000398809,p.V276I|NM_001171932,p.V276I|NM_001171931,p.V276I	protein_coding, processed_transcript	uc021psl.1	nonsynonymous SNV	exon8	c.G826A	p.V276I	DKGRPRGIGYTIVSGNTNSIFALDY	DKGRPRGIGYTIISGNTNSIFALDY	7.0	6.0	-	-	4196_10:73337743-73337743 G>A_DKGRPRGIGYTIISGNTNSIFALDY
3:140281671-140281671 G>A	1.0	4196	COLON	-	-	-	-	CLSTN2	uc003etn.3,p.R744H|ENST00000458420,p.R744H|NM_022131,p.R744H	retained_intron, protein_coding	uc003etn.3	nonsynonymous SNV	exon14	c.G2231A	p.R744H	AGYSIYGVGSMSRYEQVLHHIRYRN	AGYSIYGVGSMSHYEQVLHHIRYRN	6.0	4.0	-	-	4196_3:140281671-140281671 G>A_AGYSIYGVGSMSHYEQVLHHIRYRN
12:52374773-52374773 C>T	1.0	4196	COLON	-	-	-	-	ACVR1B	uc001rzm.3,p.R201C|ENST00000415850,p.R201C|ENST00000426655,p.R201C|NM_020327,p.R149C|uc001rzn.3,p.R201C|ENST00000542485,p.R149C|uc010snn.2,p.R201C|uc021qya.1,p.R149C|ENST00000257963,p.R201C|NM_004302,p.R201C|NM_020328,p.R201C|ENST00000541224,p.R201C|uc001rzl.3,p.R201C	protein_coding, processed_transcript, nonsense_mediated_decay	uc021qya.1	nonsynonymous SNV	exon4	c.C445T	p.R149C	SGSGSGLPLFVQRTVARTIVLQEII	SGSGSGLPLFVQCTVARTIVLQEII	9.0	6.0	-	-	4196_12:52374773-52374773 C>T_SGSGSGLPLFVQCTVARTIVLQEII
7:6189539-6189539 C>T	1.0	4196	COLON	-	-	-	-	USP42	uc011jwo.1,p.T571M|uc010kth.1,p.T504M|uc011jwr.1,p.T416M|NM_032172,p.T571M|uc011jwq.2,p.T378M|ENST00000306177,p.T571M|ENST00000426246,p.T417M|uc011jwp.2,p.T571M	retained_intron, protein_coding, nonsense_mediated_decay	uc011jwr.1	nonsynonymous SNV	exon11	c.C1247T	p.T416M	TNSAVQSTSNASTMSVSSKVTKPIP	TNSAVQSTSNASMMSVSSKVTKPIP	7.0	6.0	-	-	4196_7:6189539-6189539 C>T_TNSAVQSTSNASMMSVSSKVTKPIP
1:1021386-1021386 G>A	1.0	4196	COLON	-	-	-	-	C1orf159	ENST00000379325,p.P106L|NM_017891,p.P106L|uc001act.2,p.P142L|ENST00000434641,p.P106L|ENST00000421241,p.P106L|ENST00000379319,p.P106L|ENST00000294576,p.P106L|uc001acu.2,p.P106L|ENST00000379339,p.P142L|ENST00000437760,p.P106L|ENST00000448924,p.P142L|ENST00000379320,p.P106L|uc001acn.2,p.P106L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001acu.2	nonsynonymous SNV	exon7	c.C317T	p.P106L	SSGTPGRPHPGAPRVAASLFLGTFF	SSGTPGRPHPGALRVAASLFLGTFF	7.0	4.0	-	-	4196_1:1021386-1021386 G>A_SSGTPGRPHPGALRVAASLFLGTFF
13:53000150-53000150 T>C	1.0	4196	COLON	-	-	-	-	VPS36	NM_016075,p.T231A|uc001vgq.3,p.T173A|NM_001282168,p.T222A|NM_001282169,p.T173A|ENST00000378060,p.T231A|uc001vgs.3,p.T231A	retained_intron, protein_coding, processed_transcript	uc001vgs.3	nonsynonymous SNV	exon9	c.A691G	p.T231A	SYLLSMGIANPVTRETYGSGTQYHM	SYLLSMGIANPVARETYGSGTQYHM	10.0	1.0	unscreened	-	4196_13:53000150-53000150 T>C_SYLLSMGIANPVARETYGSGTQYHM
15:68605146-68605146 C>T	1.0	4196	COLON	-	-	-	-	ITGA11	ENST00000315757,p.D980N|uc002ari.3,p.D980N|NM_001004439,p.D980N|uc010bib.3,p.D980N|ENST00000423218,p.D980N	retained_intron, protein_coding, processed_transcript	uc010bib.3	nonsynonymous SNV	exon24	c.G2938A	p.D980N	YEVKPNSSLERYDGIGPPFSCIFRI	YEVKPNSSLERYNGIGPPFSCIFRI	7.0	9.0	-	-	4196_15:68605146-68605146 C>T_YEVKPNSSLERYNGIGPPFSCIFRI
8:144995858-144995858 T>G	1.0	4196	COLON	-	-	-	-	PLEC	ENST00000436759,p.S2738R|uc003zab.1,p.S2711R|ENST00000345136,p.S2711R|ENST00000527096,p.S2734R|NM_201379,p.S2689R|NM_201380,p.S2848R|uc003zad.2,p.S2711R|ENST00000357649,p.S2715R|ENST00000322810,p.S2848R|ENST00000356346,p.S2697R|NM_201383,p.S2715R|ENST00000354589,p.S2711R|NM_201378,p.S2697R|ENST00000398774,p.S2679R|uc003zae.1,p.S2679R|uc003zaj.2,p.S2738R|ENST00000354958,p.S2689R|NM_000445,p.S2738R|uc003zac.1,p.S2715R|uc003zaf.1,p.S2848R|uc003zah.2,p.S2697R|uc003zag.1,p.S2689R|NM_201382,p.S2711R|NM_201384,p.S2711R|NM_201381,p.S2679R	retained_intron, protein_coding	uc003zaj.2	nonsynonymous SNV	exon33	c.A8212C	p.S2738R	AGLLLKATNEKLSVYAALQRQLLSP	AGLLLKATNEKLRVYAALQRQLLSP	10.0	3.0	unscreened	-	4196_8:144995858-144995858 T>G_AGLLLKATNEKLRVYAALQRQLLSP
11:65339027-65339027 C>T	1.0	4196	COLON	0.0018	-	-	-	SSSCA1	ENST00000309328,p.P141L|uc001oek.3,p.P141L|ENST00000533115,p.P135L|ENST00000531405,p.P104L|NM_006396,p.P141L	retained_intron, protein_coding	uc001oek.3	nonsynonymous SNV	exon4	c.C422T	p.P141L	AAGLKAAQGPPAPAVPPNTDVMACT	AAGLKAAQGPPALAVPPNTDVMACT	8.0	7.0	-	-	4196_11:65339027-65339027 C>T_AAGLKAAQGPPALAVPPNTDVMACT
3:120499998-120499998 C>T	1.0	4196	COLON	-	-	-	-	GTF2E1	ENST00000283875,p.S334F|NM_005513,p.S334F|uc003edz.4,p.S334F	retained_intron, protein_coding	uc003edz.4	nonsynonymous SNV	exon5	c.C1001T	p.S334F	MRALLIHEKKTSSAMAGSVGAAAPV	MRALLIHEKKTSFAMAGSVGAAAPV	9.0	10.0	-	-	4196_3:120499998-120499998 C>T_MRALLIHEKKTSFAMAGSVGAAAPV
7:99661861-99661861 T>G	1.0	4196	COLON	-	-	-	-	ZSCAN21	uc003usn.1,p.L313V|ENST00000543588,p.L314V|ENST00000456748,p.L314V	protein_coding, processed_transcript	uc003usn.1	nonsynonymous SNV	exon6	c.T937G	p.L313V	SVEKLLGRAQTFLNIRECTQKRRHI	SVEKLLGRAQTFVNIRECTQKRRHI	6.0	1.0	unscreened	-	4196_7:99661861-99661861 T>G_SVEKLLGRAQTFVNIRECTQKRRHI
11:89224027-89224027 C>A	0.0	4196	COLON	-	-	-	-	NOX4	ENST00000413594,p.L38F|NM_001291927,p.L38F	retained_intron, protein_coding, nonsense_mediated_decay	NM_001291927	nonsynonymous SNV	exon1	c.G114T	p.L38F	FAPFVLFPDYFCLLGFIWLSMNVLL	FAPFVLFPDYFCFLGFIWLSMNVLL	6.0	3.0	unscreened	-	4196_11:89224027-89224027 C>A_FAPFVLFPDYFCFLGFIWLSMNVLL
3:39374765-39374765 T>C	1.0	4196	COLON	-	-	-	-	CCR8	uc003cjm.2,p.F232L|ENST00000326306,p.F315L|uc010hhr.2,p.F315L|NM_005201,p.F315L|ENST00000545843,p.F232L|uc021wwe.1,p.F315L	protein_coding	uc021wwe.1	nonsynonymous SNV	exon1	c.T943C	p.F315L	VGEKFKKHLSEIFQKSCSQIFNYLG	VGEKFKKHLSEILQKSCSQIFNYLG	6.0	10.0	-	-	4196_3:39374765-39374765 T>C_VGEKFKKHLSEILQKSCSQIFNYLG
17:45891038-45891038 T>C	1.0	4196	COLON	-	-	-	-	OSBPL7	uc002ilw.1,p.N67S|uc002ilx.1,p.N505S|ENST00000392507,p.N505S|NM_145798,p.N505S|ENST00000007414,p.N505S	retained_intron, protein_coding, nonsense_mediated_decay	uc002ilx.1	nonsynonymous SNV	exon15	c.A1514G	p.N505S	KVSMPVQLNEPLNTLQRLCEELEYS	KVSMPVQLNEPLSTLQRLCEELEYS	8.0	8.0	-	-	4196_17:45891038-45891038 T>C_KVSMPVQLNEPLSTLQRLCEELEYS
7:32591856-32591856 A>G	1.0	4196	COLON	-	-	-	-	AVL9	ENST00000404479,p.M160V|ENST00000409301,p.M160V|ENST00000318709,p.M160V|uc003tcv.1,p.M160V|NM_015060,p.M160V|ENST00000446718,p.M91V|uc011kai.2,p.M160V	retained_intron, protein_coding, processed_transcript	uc011kai.2	nonsynonymous SNV	exon6	c.A478G	p.M160V	SQISILKELYEHMNSSLGGASLEGS	SQISILKELYEHVNSSLGGASLEGS	9.0	8.0	-	-	4196_7:32591856-32591856 A>G_SQISILKELYEHVNSSLGGASLEGS
3:45812818-45812818 C>T	1.0	4196	COLON	-	-	ID=COSM189397,COSM189398;OCCURENCE=1(central_nervous_system),1(large_intestine)	-	SLC6A20	ENST00000358525,p.A276T|NM_020208,p.A276T|uc011baj.2,p.A239T|uc011bai.2,p.A276T|ENST00000353278,p.A239T|NM_022405,p.A239T|ENST00000413781,p.A229T|ENST00000456124,p.A276T	retained_intron, protein_coding, processed_transcript	uc011baj.2	nonsynonymous SNV	exon5	c.G715A	p.A239T	SYNEPSNNCQKHAIIVSLINSFTSI	SYNEPSNNCQKHTIIVSLINSFTSI	8.0	8.0	-	-	4196_3:45812818-45812818 C>T_SYNEPSNNCQKHTIIVSLINSFTSI
6:20152868-20152868 A>C	1.0	4196	COLON	-	-	-	-	MBOAT1	uc003ncx.2,p.F78V|ENST00000536798,p.F78V|ENST00000324607,p.F78V|NM_001080480,p.F78V	protein_coding	uc003ncx.2	nonsynonymous SNV	exon2	c.T232G	p.F78V	AVATIFGIYFVIFCFGWYSVHLFVL	AVATIFGIYFVIVCFGWYSVHLFVL	8.0	4.0	-	-	4196_6:20152868-20152868 A>C_AVATIFGIYFVIVCFGWYSVHLFVL
12:62919783-62919783 G>A	1.0	4196	COLON	-	-	-	-	MON2	NM_001278472,p.G362E|uc001srf.3,p.G197E|ENST00000552115,p.G434E|uc009zqj.3,p.G434E|ENST00000393632,p.G434E|uc010ssl.2,p.G362E|ENST00000393630,p.G434E|ENST00000393629,p.G434E|ENST00000546600,p.G434E|uc010ssn.2,p.G434E|uc001sre.3,p.G434E|NM_015026,p.G434E|NM_001278471,p.G434E|ENST00000280379,p.G434E|NM_001278469,p.G434E|ENST00000552738,p.G434E|uc010ssm.2,p.G434E|NM_001278470,p.G434E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ssn.2	nonsynonymous SNV	exon11	c.G1301A	p.G434E	GSVSAPANSGMVGIGGGVTLLPAFE	GSVSAPANSGMVEIGGGVTLLPAFE	9.0	2.0	unscreened	-	4196_12:62919783-62919783 G>A_GSVSAPANSGMVEIGGGVTLLPAFE
6:29692004-29692004 T>A	1.0	4196	COLON	-	-	-	-	HLA-F	ENST00000434407,p.L130H|uc003nno.4,p.L130H|NM_001098478,p.L130H|ENST00000259951,p.L130H|uc011dlx.1,p.L130H|uc010jrl.3,p.L130H|uc031sna.1,p.L130H|NM_001098479,p.L130H|NM_018950,p.L130H|ENST00000334668,p.L130H|ENST00000376861,p.L130H|uc003nnm.4,p.L130H	protein_coding, processed_transcript	uc031sna.1	nonsynonymous SNV	exon3	c.T389A	p.L130H	GMNGCDMGPDGRLLRGYHQHAYDGK	GMNGCDMGPDGRHLRGYHQHAYDGK	10.0	2.0	unscreened	-	4196_6:29692004-29692004 T>A_GMNGCDMGPDGRHLRGYHQHAYDGK
2:37255162-37255162 C>T	1.0	4196	COLON	-	-	-	-	HEATR5B	NM_019024,p.D1253N|ENST00000233099,p.D1253N|uc002rpp.1,p.D1253N|ENST00000354531,p.D1253N	retained_intron, protein_coding	uc002rpp.1	nonsynonymous SNV	exon24	c.G3757A	p.D1253N	VAPRWATRVFAADCLCRIINLCENA	VAPRWATRVFAANCLCRIINLCENA	9.0	6.0	-	-	4196_2:37255162-37255162 C>T_VAPRWATRVFAANCLCRIINLCENA
11:14536035-14536035 T>C	1.0	4196	COLON	-	-	-	-	PSMA1	ENST00000530457,p.N61S|ENST00000419365,p.N86S|NM_002786,p.N86S|ENST00000555531,p.N86S|ENST00000396394,p.N86S|NM_148976,p.N92S|uc010rcq.2,p.N86S|ENST00000396393,p.N86S|ENST00000418988,p.N92S|uc001mlk.3,p.N86S|NM_001143937,p.N86S|uc001mll.3,p.N92S	 processed_transcript, protein_coding,retained_intron,nonsense_mediated_decay	uc010rcq.2	nonsynonymous SNV	exon5	c.A257G	p.N86S	IAGLTADARLLCNFMRQECLDSRFV	IAGLTADARLLCSFMRQECLDSRFV	10.0	8.0	-	-	4196_11:14536035-14536035 T>C_IAGLTADARLLCSFMRQECLDSRFV
8:93023230-93023230 C>A	0.0	4196	COLON	-	-	-	1	RUNX1T1	uc022axr.1,p.K186N|uc022axq.1,p.K186N|uc003yfc.2,p.K159N|ENST00000518844,p.K159N|uc011lgi.2,p.K197N|NM_001198627,p.K186N|uc022axp.1,p.K186N|uc022axv.1,p.K186N|uc003yff.1,p.K149N|ENST00000436581,p.K197N|NM_001198625,p.K159N|NM_004349,p.K159N|NM_175634,p.K186N|NM_175635,p.K149N|uc022axo.1,p.K186N|uc022axt.1,p.K186N|ENST00000360348,p.K149N|ENST00000520724,p.K149N|uc010mam.3,p.K159N|NM_001198633,p.K166N|NM_001198626,p.K186N|ENST00000518992,p.K186N|NM_001198632,p.K159N|NM_001198630,p.K186N|uc022axu.1,p.K166N|uc010mao.3,p.K159N|NM_001198631,p.K186N|ENST00000265814,p.K186N|uc003yfd.3,p.K186N|uc003yfe.2,p.K149N|uc022axs.1,p.K245N|NM_001198629,p.K186N|ENST00000521553,p.K149N|ENST00000523629,p.K186N|ENST00000521054,p.K149N|NM_001198679,p.K245N|uc003yfb.2,p.K149N|ENST00000396218,p.K159N|NM_001198628,p.K186N|ENST00000422361,p.K149N|NM_175636,p.K149N|NM_001198634,p.K197N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022axv.1	nonsynonymous SNV	exon5	c.G558T	p.K186N	NFPLRPFVIPFLKANLPLLQRELLH	NFPLRPFVIPFLNANLPLLQRELLH	7.0	10.0	-	-	4196_8:93023230-93023230 C>A_NFPLRPFVIPFLNANLPLLQRELLH
15:30905379-30905379 C>T	1.0	4196	COLON	-	rs4042339	-	-	GOLGA8H	NM_001282490,p.P450L|ENST00000566740,p.P450L	protein_coding	NM_001282490	nonsynonymous SNV	exon15	c.C1349T	p.P450L	EAPRPMPSVPEDPESREAMSSFMDH	EAPRPMPSVPEDLESREAMSSFMDH	7.0	5.0	unscreened	-	4196_15:30905379-30905379 C>T_EAPRPMPSVPEDLESREAMSSFMDH
18:53070911-53070911 C>A	0.0	4196	COLON	-	-	-	-	TCF4	ENST00000544241,p.R12I|NM_001243232,p.R12I|uc002lfx.2,p.R12I|ENST00000564228,p.R12I|uc021uki.1,p.R12I	retained_intron, protein_coding, processed_transcript	uc021uki.1	nonsynonymous SNV	exon1	c.G35T	p.R12I	MKDIFFQFIIARVRKCYSLSCLHT	MKDIFFQFIIAIVRKCYSLSCLHT	9.0	2.0	unscreened	-	4196_18:53070911-53070911 C>A_MKDIFFQFIIAIVRKCYSLSCLHT
9:84606978-84606978 C>A	1.0	4196	COLON	-	-	-	-	SPATA31D1	ENST00000344803,p.F531L|uc004amn.3,p.F531L|NM_001001670,p.F531L	protein_coding	uc004amn.3	nonsynonymous SNV	exon4	c.C1593A	p.F531L	VLVQRGHSSMFVFFNGITNTSISHE	VLVQRGHSSMFVLFNGITNTSISHE	5.0	6.0	-	-	4196_9:84606978-84606978 C>A_VLVQRGHSSMFVLFNGITNTSISHE
2:190732598-190732598 A>C	1.0	4196	COLON	-	-	-	2	PMS1	ENST00000418224,p.T630P|uc002urh.4,p.T806P|ENST00000452382,p.T194P|NM_001289409,p.T630P|ENST00000447232,p.T644P|uc002urk.4,p.T767P|NM_000534,p.T806P|ENST00000432292,p.T630P|ENST00000409823,p.T767P|uc002uri.4,p.T644P|uc010zgd.2,p.T630P|ENST00000409593,p.T429P|uc010zgc.2,p.T630P|NM_001128143,p.T767P|ENST00000441310,p.T806P|NM_001289408,p.T630P|uc002url.3,p.T429P|NM_001128144,p.T644P	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zgd.2	nonsynonymous SNV	exon9	c.A1888C	p.T630P	KMTADDQRYSGSTYLSDPRLTANGF	KMTADDQRYSGSPYLSDPRLTANGF	9.0	2.0	unscreened	-	4196_2:190732598-190732598 A>C_KMTADDQRYSGSPYLSDPRLTANGF
13:52952153-52952153 C>T	1.0	4196	COLON	-	-	-	-	THSD1	uc010tgz.2,p.R272K|NM_199263,p.R598K|ENST00000544466,p.R272K|uc001vgo.3,p.R651K|ENST00000349258,p.R598K|NM_018676,p.R651K|uc001vgp.3,p.R598K|ENST00000258613,p.R651K	protein_coding	uc010tgz.2	nonsynonymous SNV	exon3	c.G815A	p.R272K	PSERSHARNAHFRRTASFHEARQAR	PSERSHARNAHFKRTASFHEARQAR	6.0	2.0	unscreened	-	4196_13:52952153-52952153 C>T_PSERSHARNAHFKRTASFHEARQAR
6:21231085-21231085 A>G	1.0	4196	COLON	-	-	-	-	CDKAL1	uc003ndd.2,p.R519G|NM_017774,p.R519G|uc003nde.2,p.R428G|ENST00000378624,p.R428G|ENST00000378610,p.R519G|ENST00000274695,p.R519G|uc021ymk.1,p.R519G	protein_coding, processed_transcript	uc021ymk.1	nonsynonymous SNV	exon14	c.A1555G	p.R519G	AKGEVSGLTKDFRNGLGNQLSSGSH	AKGEVSGLTKDFGNGLGNQLSSGSH	8.0	2.0	unscreened	-	4196_6:21231085-21231085 A>G_AKGEVSGLTKDFGNGLGNQLSSGSH
13:111940717-111940717 A>T	1.0	4196	COLON	-	-	-	-	ARHGEF7	ENST00000426073,p.E530D|ENST00000317133,p.E687D|NM_145735,p.E687D|NM_001113513,p.E530D|ENST00000375737,p.E605D|ENST00000375736,p.E530D|NM_001113511,p.E708D|uc001vry.1,p.E124D|uc001vrw.4,p.E530D|NM_003899,p.E530D|NM_001113512,p.E658D|ENST00000478679,p.E452D|uc001vrv.4,p.E530D|uc001vrx.4,p.E530D|ENST00000375741,p.E708D|uc001vrr.2,p.E687D|uc010tjp.1,p.E452D|ENST00000375739,p.E658D|uc001vrs.2,p.E708D|uc001vrt.2,p.E658D|ENST00000218789,p.E530D|uc010tjo.2,p.E605D|ENST00000370623,p.E615D|ENST00000375723,p.E530D	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tjp.1	nonsynonymous SNV	exon13	c.A1356T	p.E452D	EEFASRKSTAALEEDAQILKVIEAY	EEFASRKSTAALDEDAQILKVIEAY	10.0	1.0	unscreened	-	4196_13:111940717-111940717 A>T_EEFASRKSTAALDEDAQILKVIEAY
15:62950025-62950025 A>G	1.0	4196	COLON	-	-	-	-	TLN2	NM_015059,p.E239G|ENST00000306829,p.E239G|ENST00000561311,p.E239G|uc002alb.4,p.E239G	retained_intron, protein_coding, processed_transcript	uc002alb.4	nonsynonymous SNV	exon6	c.A716G	p.E239G	NGSHPVSFEKACEFGGFQAQIQFGP	NGSHPVSFEKACGFGGFQAQIQFGP	8.0	3.0	-	-	4196_15:62950025-62950025 A>G_NGSHPVSFEKACGFGGFQAQIQFGP
7:4273007-4273007 A>C	0.0	4196	COLON	-	-	-	-	SDK1	uc003smx.3,p.E1983A|ENST00000389531,p.E1963A|uc003smz.3,p.E43A|NM_152744,p.E1983A|uc003smy.3,p.E470A|NM_001079653,p.E470A|uc010kso.3,p.E1239A|ENST00000404826,p.E1983A	retained_intron, protein_coding, processed_transcript	uc010kso.3	nonsynonymous SNV	exon26	c.A3716C	p.E1239A	GVTYEFRVVAVNEAGYGEPSNPSTA	GVTYEFRVVAVNAAGYGEPSNPSTA	6.0	2.0	unscreened	-	4196_7:4273007-4273007 A>C_GVTYEFRVVAVNAAGYGEPSNPSTA
X:20044026-20044026 G>A	1.0	4196	COLON	-	-	-	-	MAP7D2	uc011mji.2,p.P258L|uc004czr.2,p.P310L|ENST00000379643,p.P351L|NM_001168467,p.P258L|NM_001168465,p.P351L|uc011mjj.2,p.P265L|uc010nfo.2,p.P351L|NM_001168466,p.P265L|ENST00000543767,p.P195L|ENST00000452324,p.P258L|ENST00000379651,p.P310L|NM_152780,p.P310L|ENST00000443379,p.P265L|uc004czq.2,p.P195L	protein_coding, processed_transcript, nonsense_mediated_decay	uc011mjj.2	nonsynonymous SNV	exon7	c.C794T	p.P265L	TKAYPQSPKTTKPPYPGSPVKYRLP	TKAYPQSPKTTKLPYPGSPVKYRLP	8.0	3.0	-	-	4196_X:20044026-20044026 G>A_TKAYPQSPKTTKLPYPGSPVKYRLP
16:2817179-2817179 T>C	1.0	4196	COLON	-	-	-	-	SRRM2	ENST00000301740,p.L2217P|uc002crl.1,p.L2217P|uc002crj.1,p.L2121P|uc010bsu.1,p.L2121P|NM_016333,p.L2217P|uc002crk.3,p.L2217P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bsu.1	nonsynonymous SNV	exon10	c.T6362C	p.L2121P	AARMSQVPAPVPLMSLRTAPAANLA	AARMSQVPAPVPPMSLRTAPAANLA	10.0	4.0	-	-	4196_16:2817179-2817179 T>C_AARMSQVPAPVPPMSLRTAPAANLA
X:123699239-123699239 T>A	1.0	4196	COLON	-	-	-	-	TENM1	uc004euj.3,p.D750V|NM_001163279,p.D749V|uc010nqy.3,p.D750V|ENST00000371130,p.D750V|ENST00000422452,p.D750V|NM_001163278,p.D750V|NM_014253,p.D750V|uc011muj.2,p.D749V	protein_coding, processed_transcript	uc011muj.2	nonsynonymous SNV	exon12	c.A2246T	p.D749V	DGKCECSPGWEGDHCTIAHYLDAVR	DGKCECSPGWEGVHCTIAHYLDAVR	4.0	10.0	-	-	4196_X:123699239-123699239 T>A_DGKCECSPGWEGVHCTIAHYLDAVR
3:53529260-53529260 G>A	1.0	4196	COLON	-	-	-	1	CACNA1D	uc003dgu.5,p.E23K|NM_000720,p.E23K|uc003dgy.5,p.E23K|NM_001128839,p.E23K|ENST00000288139,p.E23K|uc003dgv.5,p.E23K|ENST00000422281,p.E23K|NM_001128840,p.E23K|ENST00000350061,p.E23K	retained_intron, protein_coding, processed_transcript	uc003dgy.5	nonsynonymous SNV	exon1	c.G67A	p.E23K	QHQRQQQADHANEANYARGTRLPLS	QHQRQQQADHANKANYARGTRLPLS	7.0	8.0	-	-	4196_3:53529260-53529260 G>A_QHQRQQQADHANKANYARGTRLPLS
9:32477066-32477066 T>C	1.0	4196	COLON	-	-	-	-	DDX58	uc003zra.3,p.D613G|uc010mjk.1,p.D568G|NM_014314,p.D613G|ENST00000379883,p.D613G|ENST00000379882,p.D568G|ENST00000545044,p.D410G|ENST00000379868,p.D410G|uc011lnr.1,p.D410G|uc010mji.3,p.D542G|ENST00000542096,p.D542G	protein_coding	uc011lnr.1	nonsynonymous SNV	exon12	c.A1229G	p.D410G	SRDPSNENPKLEDLCFILQEEYHLN	SRDPSNENPKLEGLCFILQEEYHLN	8.0	4.0	-	-	4196_9:32477066-32477066 T>C_SRDPSNENPKLEGLCFILQEEYHLN
14:51368608-51368608 T>C	1.0	4196	COLON	-	-	-	-	ABHD12B	uc001wyq.3,p.I174T|uc001wys.3,p.I281T|ENST00000395752,p.I174T|uc001wyr.3,p.I204T|NM_001206673,p.I281T|ENST00000353130,p.I204T|NM_181814,p.I204T|ENST00000337334,p.I281T	protein_coding, processed_transcript, nonsense_mediated_decay	uc001wys.3	nonsynonymous SNV	exon10	c.T842C	p.I281T	LRTLMDALRKDKIIFPNDENVKFLS	LRTLMDALRKDKTIFPNDENVKFLS	7.0	9.0	-	-	4196_14:51368608-51368608 T>C_LRTLMDALRKDKTIFPNDENVKFLS
3:193366627-193366627 T>A	1.0	4196	COLON	-	-	-	-	OPA1	NM_015560,p.V605D|NM_130835,p.V624D|ENST00000361510,p.V660D|NM_130831,p.V569D|ENST00000361715,p.V624D|NM_130834,p.V623D|uc003ftn.3,p.V569D|ENST00000392438,p.V605D|uc003fth.3,p.V624D|NM_130833,p.V606D|uc003ftg.3,p.V660D|NM_130836,p.V642D|uc003fti.3,p.V642D|uc003ftj.3,p.V623D|ENST00000361150,p.V606D|NM_130837,p.V660D|ENST00000361828,p.V623D|NM_130832,p.V587D|uc003ftk.3,p.V606D|uc003ftl.3,p.V587D|ENST00000361908,p.V642D|uc003ftm.3,p.V605D	retained_intron, protein_coding, processed_transcript	uc003ftn.3	nonsynonymous SNV	exon18	c.T1706A	p.V569D	LFEKAKNEILDEVISLSQVTPKHWE	LFEKAKNEILDEDISLSQVTPKHWE	10.0	3.0	-	-	4196_3:193366627-193366627 T>A_LFEKAKNEILDEDISLSQVTPKHWE
16:814723-814723 T>A	0.0	4196	COLON	-	-	-	-	MSLN	ENST00000382862,p.L126H|uc010brd.1,p.L125H|NM_013404,p.L126H|uc002cjt.1,p.L126H|ENST00000563941,p.L126H|uc002cjw.2,p.L126H|NM_001177355,p.L126H|ENST00000569566,p.L126H|ENST00000563651,p.L126H|ENST00000566549,p.L126H|ENST00000545450,p.L126H|uc002cju.1,p.L126H|NM_005823,p.L126H	protein_coding	uc010brd.1	nonsynonymous SNV	exon6	c.T374A	p.L125H	DLDALPLDLLLFLNPDAFSGPQACT	DLDALPLDLLLFHNPDAFSGPQACT	6.0	5.0	-	-	4196_16:814723-814723 T>A_DLDALPLDLLLFHNPDAFSGPQACT
5:94275847-94275847 G>T	1.0	4196	COLON	-	-	-	-	MCTP1	ENST00000512425,p.L33I|uc003kkw.2,p.L151I|ENST00000514780,p.L132I|ENST00000429576,p.L151I|NM_001002796,p.L151I|uc003kkx.2,p.L372I|ENST00000515393,p.L372I|ENST00000508509,p.L151I|ENST00000505208,p.L151I|ENST00000507214,p.L133I|uc003kkv.2,p.L151I|ENST00000312216,p.L151I|NM_024717,p.L372I|uc003kkz.2,p.L33I|NM_001297777,p.L151I	retained_intron, protein_coding, processed_transcript	uc003kkz.2	nonsynonymous SNV	exon4	c.C97A	p.L33I	LTLKDPHYPDHDLGIILLSVILTPK	LTLKDPHYPDHDIGIILLSVILTPK	7.0	7.0	-	-	4196_5:94275847-94275847 G>T_LTLKDPHYPDHDIGIILLSVILTPK
15:65680858-65680858 G>A	1.0	4196	COLON	-	-	ID=COSM3377721;OCCURENCE=1(pancreas)	-	IGDCC4	uc002aou.1,p.A925V|uc002aot.1,p.A513V|NM_020962,p.A925V|ENST00000352385,p.A925V	retained_intron, protein_coding, processed_transcript	uc002aou.1	nonsynonymous SNV	exon16	c.C2774T	p.A925V	LESDTRYFFKMGARTEVGPGPFSRL	LESDTRYFFKMGVRTEVGPGPFSRL	5.0	8.0	-	-	4196_15:65680858-65680858 G>A_LESDTRYFFKMGVRTEVGPGPFSRL
14:64457252-64457278 CAGGCAAAGATTCAAGAAGCTAAAGAG>-	0.0	4196	COLON	-	-	-	-	SYNE2	uc001xgm.3,p.813_821del|ENST00000358025,p.813_821del|NM_015180,p.813_821del|ENST00000554584,p.813_821del|uc001xgl.3,p.813_821del|NM_182914,p.813_821del|uc021ruh.1,p.813_821del|ENST00000344113,p.813_821del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ruh.1	nonframeshift deletion	exon19	c.2437_2463del	p.813_821del	QESFQHVLTTGLQAKIQEAKEKVQI	QESFQHVLTTGLKVQINVVKLIAAL	10.0	6.0	-	-	4196_14:64457252-64457278 CAGGCAAAGATTCAAGAAGCTAAAGAG>-_QESFQHVLTTGLKVQINVVKLIAAL
X:47101515-47101515 G>A	0.0	4196	COLON	-	-	-	-	USP11	NM_004651,p.R448Q|uc004dhp.3,p.R448Q|ENST00000218348,p.R448Q|uc004dhq.3,p.R175Q|ENST00000377107,p.R405Q	retained_intron, protein_coding	uc004dhq.3	nonsynonymous SNV	exon8	c.G524A	p.R175Q	QEVAQEAWQNHKRRNDSVIVDTFHG	QEVAQEAWQNHKQRNDSVIVDTFHG	9.0	3.0	-	-	4196_X:47101515-47101515 G>A_QEVAQEAWQNHKQRNDSVIVDTFHG
X:134680789-134680789 C>G	1.0	4196	COLON	-	-	-	-	DDX26B	uc004eyw.4,p.Q198E|ENST00000370752,p.Q198E|NM_182540,p.Q198E	protein_coding, processed_transcript	uc004eyw.4	nonsynonymous SNV	exon5	c.C592G	p.Q198E	LGSVPTDESAITQMCEVTGGRSYCV	LGSVPTDESAITEMCEVTGGRSYCV	7.0	7.0	-	-	4196_X:134680789-134680789 C>G_LGSVPTDESAITEMCEVTGGRSYCV
6:21231085-21231085 A>G	1.0	4196	COLON	-	-	-	-	CDKAL1	uc003ndf.2,p.R32G	protein_coding, processed_transcript	uc003ndf.2	nonsynonymous SNV	exon3	c.A94G	p.R32G	FHSYSPYDHKDFRNGLGNQLSSGSH	FHSYSPYDHKDFGNGLGNQLSSGSH	8.0	2.0	unscreened	-	4196_6:21231085-21231085 A>G_FHSYSPYDHKDFGNGLGNQLSSGSH
X:12840840-12840840 G>A	1.0	4196	COLON	-	-	-	-	PRPS2	uc010nec.3,p.M172I|ENST00000461630,p.M149I|NM_001039091,p.M297I|uc004cva.3,p.M297I|NM_002765,p.M294I|ENST00000398491,p.M297I|ENST00000380668,p.M294I|uc004cvb.3,p.M294I	protein_coding, processed_transcript	uc010nec.3	nonsynonymous SNV	exon5	c.G516A	p.M172I	KHCTKIQVIDISMILAEAIRRTHNG	KHCTKIQVIDISIILAEAIRRTHNG	9.0	9.0	-	-	4196_X:12840840-12840840 G>A_KHCTKIQVIDISIILAEAIRRTHNG
9:114304384-114304384 A>T	1.0	4196	COLON	-	-	-	-	ZNF483	NM_133464,p.Q390L|ENST00000309235,p.Q390L|uc004bff.2,p.Q390L	protein_coding	uc004bff.2	nonsynonymous SNV	exon6	c.A1169T	p.Q390L	QKRQKIHLGDRSQKCSKCGIIFIRR	QKRQKIHLGDRSLKCSKCGIIFIRR	6.0	3.0	-	-	4196_9:114304384-114304384 A>T_QKRQKIHLGDRSLKCSKCGIIFIRR
5:179740814-179740814 C>T	1.0	4196	COLON	-	-	-	-	GFPT2	uc003mlw.1,p.S475N|ENST00000253778,p.S475N|NM_005110,p.S475N	retained_intron, protein_coding, processed_transcript	uc003mlw.1	nonsynonymous SNV	exon14	c.G1424A	p.S475N	VHINAGPEIGVASTKAYTSQFISLV	VHINAGPEIGVANTKAYTSQFISLV	7.0	1.0	unscreened	-	4196_5:179740814-179740814 C>T_VHINAGPEIGVANTKAYTSQFISLV
5:86707138-86707138 A>C	1.0	4196	COLON	-	-	-	-	CCNH	uc003kjb.3,p.L48R|ENST00000256897,p.L48R|NM_001239,p.L48R	retained_intron, protein_coding, processed_transcript	uc003kjb.3	nonsynonymous SNV	exon2	c.T143G	p.L48R	ANGKVLPNDPVFLEPHEEMTLCKYY	ANGKVLPNDPVFREPHEEMTLCKYY	9.0	3.0	unscreened	-	4196_5:86707138-86707138 A>C_ANGKVLPNDPVFREPHEEMTLCKYY
17:17075109-17075109 G>T	1.0	4196	COLON	-	-	-	-	MPRIP	ENST00000341712,p.Q747H|ENST00000395811,p.Q747H|ENST00000584067,p.Q553H|uc002gqu.2,p.Q747H|uc002gqv.2,p.Q747H|ENST00000444976,p.Q709H|NM_015134,p.Q747H|ENST00000395804,p.Q747H|uc002gqx.2,p.Q976H|NM_201274,p.Q747H|uc002gqw.2,p.Q502H|uc002gqy.2,p.Q976H	retained_intron, protein_coding, processed_transcript	uc002gqy.2	nonsynonymous SNV	exon2	c.G2928T	p.Q976H	HQKKIEDLQRQHQRELEKLREEKDR	HQKKIEDLQRQHHRELEKLREEKDR	10.0	5.0	-	-	4196_17:17075109-17075109 G>T_HQKKIEDLQRQHHRELEKLREEKDR
1:39927648-39927648 C>A	1.0	4196	COLON	-	-	-	-	MACF1	uc001cde.2,p.A24D|NM_012090,p.A5147D|ENST00000567887,p.A7243D|ENST00000317713,p.A5147D|uc021olt.1,p.A5147D|ENST00000545844,p.A5147D|ENST00000289893,p.A5649D|ENST00000539005,p.A5017D|uc031pme.1,p.A1203D|ENST00000361689,p.A5147D|ENST00000372915,p.A7105D|ENST00000564288,p.A7206D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pme.1	nonsynonymous SNV	exon23	c.C3608A	p.A1203D	GDGYIDYYEFVAALHPNKDAYRPTT	GDGYIDYYEFVADLHPNKDAYRPTT	10.0	5.0	-	-	4196_1:39927648-39927648 C>A_GDGYIDYYEFVADLHPNKDAYRPTT
10:125426434-125426434 G>A	1.0	4196	COLON	-	-	-	-	GPR26	NM_153442,p.V171I|uc001lhh.3,p.V171I|ENST00000284674,p.V171I	protein_coding	uc001lhh.3	nonsynonymous SNV	exon1	c.G511A	p.V171I	CSRRPDERLRFAVFTGAFHALSFLL	CSRRPDERLRFAIFTGAFHALSFLL	1.0	7.0	-	-	4196_10:125426434-125426434 G>A_CSRRPDERLRFAIFTGAFHALSFLL
7:63981594-63981594 G>C	1.0	4196	COLON	-	-	-	-	ZNF680	NM_178558,p.T513S|uc003tta.2,p.T513S|ENST00000309683,p.T513S	retained_intron, protein_coding, processed_transcript	uc003tta.2	nonsynonymous SNV	exon4	c.C1538G	p.T513S	RSSHLTRHKKIHTGEKLYKPEKCDN	RSSHLTRHKKIHSGEKLYKPEKCDN	9.0	7.0	-	-	4196_7:63981594-63981594 G>C_RSSHLTRHKKIHSGEKLYKPEKCDN
3:48677616-48677616 C>G	1.0	4196	COLON	-	-	-	-	CELSR3	ENST00000544264,p.M3139I|uc003cul.3,p.M3134I|NM_001407,p.M3134I|uc010hkf.3,p.M424I|ENST00000164024,p.M3134I|uc003cuf.1,p.M3232I|uc010hkg.3,p.M1117I	retained_intron, protein_coding	uc010hkg.3	nonsynonymous SNV	exon24	c.G3351C	p.M1117I	PRRQPPRDYPGAMAGRFGSRDALDL	PRRQPPRDYPGAIAGRFGSRDALDL	6.0	6.0	-	-	4196_3:48677616-48677616 C>G_PRRQPPRDYPGAIAGRFGSRDALDL
12:53685613-53685613 G>A	1.0	4196	COLON	-	-	-	-	ESPL1	NM_012291,p.S1887N|ENST00000257934,p.S1887N|uc001scj.2,p.S1562N|ENST00000552462,p.S1887N|uc001sck.2,p.S1887N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sck.2	nonsynonymous SNV	exon26	c.G5660A	p.S1887N	EAVGRLQGLTVPSNSHLVLVLDKDL	EAVGRLQGLTVPNNSHLVLVLDKDL	7.0	4.0	-	-	4196_12:53685613-53685613 G>A_EAVGRLQGLTVPNNSHLVLVLDKDL
X:154736722-154736722 C>A	0.0	4196	COLON	-	-	-	-	TMLHE	uc004fnn.3,p.A278S|uc004fnp.4,p.A278S|ENST00000369439,p.A278S|NM_018196,p.A278S|NM_001184797,p.A278S|ENST00000334398,p.A278S	protein_coding, processed_transcript	uc004fnp.4	nonsynonymous SNV	exon6	c.G832T	p.A278S	GGRTLLVDGFYAAEQVLQKAPEEFE	GGRTLLVDGFYASEQVLQKAPEEFE	8.0	1.0	unscreened	-	4196_X:154736722-154736722 C>A_GGRTLLVDGFYASEQVLQKAPEEFE
8:93023230-93023230 C>A	0.0	4196	COLON	-	-	-	1	RUNX1T1	uc003yfg.2,p.K149N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yfg.2	nonsynonymous SNV	exon3	c.G447T	p.K149N	NFPLRPFVIPFLKVLHSSLVCKVF	NFPLRPFVIPFLNVLHSSLVCKVF	7.0	10.0	-	-	4196_8:93023230-93023230 C>A_NFPLRPFVIPFLNVLHSSLVCKVF
19:58773358-58773358 A>C	1.0	4196	COLON	-	-	-	-	ZNF544	uc002qrt.4,p.K320N|uc010euo.3,p.K462N|ENST00000600044,p.K434N|ENST00000599953,p.K320N|NM_014480,p.K462N|ENST00000415203,p.K434N|ENST00000269829,p.K462N|ENST00000600220,p.K434N|ENST00000596652,p.K462N|uc010yhx.2,p.K434N|uc010yhy.2,p.K434N|uc002qru.4,p.K320N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yhy.2	nonsynonymous SNV	exon6	c.A1302C	p.K434N	NLIVHQRIHTGEKPYECTHCGKSFS	NLIVHQRIHTGENPYECTHCGKSFS	9.0	7.0	-	-	4196_19:58773358-58773358 A>C_NLIVHQRIHTGENPYECTHCGKSFS
2:51255027-51255027 A>T	0.0	4196	COLON	-	-	-	-	NRXN1	uc021vhh.1,p.F129I|ENST00000406859,p.F129I|ENST00000406316,p.F129I|uc021vhk.1,p.F129I|NM_004801,p.F129I|ENST00000404971,p.F129I|ENST00000401669,p.F129I|uc021vhj.1,p.F129I|ENST00000405581,p.F129I|ENST00000405472,p.F129I|uc021vhg.1,p.F129I|ENST00000402717,p.F129I|NM_001135659,p.F129I|uc021vhi.1,p.F129I	retained_intron, protein_coding, processed_transcript	uc021vhk.1	nonsynonymous SNV	exon2	c.T385A	p.F129I	VRIRRQFRNTTLFIDQVEAKWVEVK	VRIRRQFRNTTLIIDQVEAKWVEVK	5.0	9.0	-	-	4196_2:51255027-51255027 A>T_VRIRRQFRNTTLIIDQVEAKWVEVK
X:114856594-114856594 T>G	1.0	4196	COLON	-	-	-	-	PLS3	ENST00000355899,p.L37R|uc011mtf.2,p.L15R|uc004eqd.3,p.L37R|uc011mtg.2,p.L37R|NM_005032,p.L37R|NM_001172335,p.L37R|ENST00000420625,p.L37R|ENST00000537301,p.L15R|ENST00000473026,p.L37R|uc010nqg.3,p.L37R|uc004eqe.3,p.L37R|NM_001282337,p.L15R|NM_001136025,p.L37R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011mtg.2	nonsynonymous SNV	exon3	c.T110G	p.L37R	DLNSNGFICDYELHELFKEANMPLP	DLNSNGFICDYERHELFKEANMPLP	10.0	1.0	unscreened	-	4196_X:114856594-114856594 T>G_DLNSNGFICDYERHELFKEANMPLP
2:197002269-197002269 C>G	1.0	4196	COLON	-	-	-	-	STK17B	ENST00000409228,p.E341Q|NM_004226,p.E341Q|uc010fsh.3,p.E341Q|ENST00000263955,p.E341Q|uc002utk.3,p.E341Q	protein_coding	uc010fsh.3	nonsynonymous SNV	exon8	c.G1021C	p.E341Q	SCNGTCGDREDKENIPEDSSMVSKR	SCNGTCGDREDKQNIPEDSSMVSKR	8.0	2.0	unscreened	-	4196_2:197002269-197002269 C>G_SCNGTCGDREDKQNIPEDSSMVSKR
19:6374860-6374860 G>A	1.0	4196	COLON	-	-	-	-	ALKBH7	uc002meo.2,p.R181Q|NM_032306,p.R181Q|ENST00000245812,p.R181Q|ENST00000596657,p.R39Q|ENST00000599849,p.R120Q	protein_coding	uc002meo.2	nonsynonymous SNV	exon4	c.G542A	p.R181Q	GSARYDFSHEILRDEESFFGERRIP	GSARYDFSHEILQDEESFFGERRIP	7.0	6.0	-	-	4196_19:6374860-6374860 G>A_GSARYDFSHEILQDEESFFGERRIP
7:43664217-43664217 A>G	1.0	4196	COLON	-	-	-	-	STK17A	NM_004760,p.N341D|uc003tih.3,p.N341D|ENST00000319357,p.N341D	retained_intron, protein_coding, processed_transcript	uc003tih.3	nonsynonymous SNV	exon7	c.A1021G	p.N341D	PSFRMEKALEEANALQEGHSVPEIN	PSFRMEKALEEADALQEGHSVPEIN	8.0	10.0	-	-	4196_7:43664217-43664217 A>G_PSFRMEKALEEADALQEGHSVPEIN
6:35610519-35610519 T>C	1.0	4196	COLON	-	-	-	-	FKBP5	ENST00000536438,p.K28R|NM_001145776,p.K28R|ENST00000542713,p.K28R|uc003okz.2,p.K28R|NM_001145777,p.K28R|NM_001145775,p.K28R|uc003oky.2,p.K28R|ENST00000357266,p.K28R|NM_004117,p.K28R|uc003okx.2,p.K28R|uc011dte.1,p.K28R|ENST00000539068,p.K28R	protein_coding	uc011dte.1	nonsynonymous SNV	exon2	c.A83G	p.K28R	ATVAEQGEDITSKKDRGVLKIVKRV	ATVAEQGEDITSRKDRGVLKIVKRV	8.0	3.0	-	-	4196_6:35610519-35610519 T>C_ATVAEQGEDITSRKDRGVLKIVKRV
3:142731183-142731183 G>C	1.0	4196	COLON	-	-	-	-	U2SURP	uc003evh.1,p.Q70H|uc011bnj.1,p.Q70H|ENST00000488497,p.Q70H|ENST00000473835,p.Q70H|NM_001080415,p.Q70H|ENST00000600150,p.Q50H|ENST00000465175,p.Q40H|ENST00000493782,p.Q70H|ENST00000463563,p.Q72H|uc003evk.1,p.Q70H|ENST00000493598,p.Q70H	retained_intron, protein_coding, nonsense_mediated_decay	uc011bnj.1	nonsynonymous SNV	exon3	c.G210C	p.Q70H	ESARESLCDSPHQNLSRPLLENKLK	ESARESLCDSPHHNLSRPLLENKLK	10.0	2.0	unscreened	-	4196_3:142731183-142731183 G>C_ESARESLCDSPHHNLSRPLLENKLK
7:155755665-155755665 C>T	1.0	4196	COLON	-	-	-	-	LOC389602	ENST00000377722,p.R48W|NM_001291913,p.R48W	protein_coding	NM_001291913	nonsynonymous SNV	exon1	c.C142T	p.R48W	CLWVEPREIDNIRPFRAKTNASFAG	CLWVEPREIDNIWPFRAKTNASFAG	4.0	9.0	unscreened	-	4196_7:155755665-155755665 C>T_CLWVEPREIDNIWPFRAKTNASFAG
15:69739230-69739230 G>T	1.0	4196	COLON	-	-	-	-	KIF23	uc010bii.3,p.M745I|ENST00000260363,p.M939I|ENST00000559279,p.M835I|uc002asc.3,p.M835I|NM_004856,p.M835I|ENST00000558585,p.M652I|ENST00000537891,p.M652I|NM_001281301,p.M745I|uc002asb.3,p.M939I|ENST00000352331,p.M835I|uc010ukc.2,p.M652I|NM_138555,p.M939I|ENST00000395392,p.M931I	retained_intron, protein_coding, nonsense_mediated_decay	uc010ukc.2	nonsynonymous SNV	exon17	c.G1956T	p.M652I	TDVETRCSVAVEMRAGSQLGPGYQH	TDVETRCSVAVEIRAGSQLGPGYQH	9.0	3.0	-	-	4196_15:69739230-69739230 G>T_TDVETRCSVAVEIRAGSQLGPGYQH
2:32756504-32756504 A>T	1.0	4196	COLON	-	-	-	2	BIRC6	ENST00000421745,p.E4059D|NM_016252,p.E4059D|uc010ezu.3,p.E4059D	retained_intron, protein_coding, nonsense_mediated_decay	uc010ezu.3	nonsynonymous SNV	exon61	c.A12177T	p.E4059D	TPGDECMDGILDESLLETCPIQSPL	TPGDECMDGILDDSLLETCPIQSPL	10.0	6.0	-	-	4196_2:32756504-32756504 A>T_TPGDECMDGILDDSLLETCPIQSPL
X:153642444-153642444 A>T	1.0	4196	COLON	-	-	-	-	TAZ	uc004fkx.3,p.E126V|ENST00000351413,p.E126V|uc004fky.3,p.E126V|uc010nuy.3,p.E144V|ENST00000299328,p.E126V|ENST00000426834,p.E144V|NM_000116,p.E126V|ENST00000475699,p.E126V|NM_181312,p.E126V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010nuy.3	nonsynonymous SNV	exon5	c.A431T	p.E144V	SLGKCVPVCRGAEFFQAENEGKGVL	SLGKCVPVCRGAVFFQAENEGKGVL	10.0	8.0	-	-	4196_X:153642444-153642444 A>T_SLGKCVPVCRGAVFFQAENEGKGVL
1:94048148-94048148 G>A	1.0	4196	COLON	-	-	-	-	BCAR3	ENST00000260502,p.P466S|NM_001261409,p.P466S|NM_003567,p.P466S|ENST00000370247,p.P375S|uc009wdm.1,p.P142S|ENST00000370243,p.P466S|ENST00000539242,p.P142S|ENST00000370244,p.P466S|uc001dpz.4,p.P466S|NM_001261410,p.P375S|NM_001261408,p.P466S|uc001dqa.4,p.P466S|uc001dpx.5,p.P142S|uc001dpy.4,p.P375S|uc001dqb.4,p.P466S	retained_intron, protein_coding, processed_transcript	uc009wdm.1	nonsynonymous SNV	exon3	c.C424T	p.P142S	HTELLTAKQNEAPGPRNSGVNYLIL	HTELLTAKQNEASGPRNSGVNYLIL	7.0	10.0	-	-	4196_1:94048148-94048148 G>A_HTELLTAKQNEASGPRNSGVNYLIL
19:49573484-49573484 G>A	1.0	4196	COLON	-	-	-	-	KCNA7	uc002pmg.3,p.R403W|ENST00000221444,p.R403W|NM_031886,p.R403W	protein_coding	uc002pmg.3	nonsynonymous SNV	exon2	c.C1207T	p.R403W	PVIVSNFSYFYHRETEGEEAGMFSH	PVIVSNFSYFYHWETEGEEAGMFSH	2.0	8.0	-	-	4196_19:49573484-49573484 G>A_PVIVSNFSYFYHWETEGEEAGMFSH
17:7415140-7415140 T>C	1.0	4196	COLON	-	-	-	-	POLR2A	NM_000937,p.I1371T|uc002ghf.4,p.I1371T|ENST00000322644,p.I1371T	retained_intron, protein_coding	uc002ghf.4	nonsynonymous SNV	exon25	c.T4112C	p.I1371T	SNDIVEIFTVLGIEAVRKALERELY	SNDIVEIFTVLGTEAVRKALERELY	10.0	9.0	-	-	4196_17:7415140-7415140 T>C_SNDIVEIFTVLGTEAVRKALERELY
15:32895575-32895575 T>C	1.0	4196	COLON	-	rs4078457	-	-	GOLGA8N	ENST00000569659,p.I456T|NM_001282494,p.I492T|ENST00000448387,p.I492T	retained_intron, protein_coding	NM_001282494	nonsynonymous SNV	exon17	c.T1475C	p.I492T	FIQYWQERCHQKIHHLLSEPGGRAK	FIQYWQERCHQKTHHLLSEPGGRAK	8.0	6.0	unscreened	-	4196_15:32895575-32895575 T>C_FIQYWQERCHQKTHHLLSEPGGRAK
X:27840321-27840321 C>T	1.0	4196	COLON	-	-	-	-	MAGEB10	ENST00000356790,p.P300S|uc004dbw.3,p.P300S|NM_182506,p.P300S|uc022bud.1,p.P300S	protein_coding	uc022bud.1	nonsynonymous SNV	exon1	c.C898T	p.P300S	VLEFLAKVNDTAPSEFSNWYTEALQ	VLEFLAKVNDTASSEFSNWYTEALQ	4.0	9.0	-	-	4196_X:27840321-27840321 C>T_VLEFLAKVNDTASSEFSNWYTEALQ
X:118370534-118370534 C>T	0.0	4196	COLON	-	-	-	-	PGRMC1	ENST00000535419,p.R70W|uc011mts.2,p.R70W|uc004erb.3,p.R70W|NM_006667,p.R70W|NM_001282621,p.R70W|ENST00000217971,p.R70W	protein_coding	uc011mts.2	nonsynonymous SNV	exon1	c.C208T	p.R70W	DDDEPPPLPRLKRRDFTPAELRRFD	DDDEPPPLPRLKWRDFTPAELRRFD	9.0	8.0	-	-	4196_X:118370534-118370534 C>T_DDDEPPPLPRLKWRDFTPAELRRFD
2:148733485-148733485 C>G	0.0	4196	COLON	-	-	-	-	ORC4	ENST00000535373,p.E15Q|ENST00000457954,p.E15Q|ENST00000264169,p.E15Q|NM_181741,p.E15Q|uc002twj.3,p.E15Q|ENST00000392858,p.E15Q|uc021vqr.1,p.E15Q|NM_001190879,p.E15Q|NM_181742,p.E15Q|ENST00000440042,p.E15Q|uc002twk.3,p.E15Q|ENST00000416719,p.E15Q|ENST00000392857,p.E15Q|uc010zbr.2,p.E15Q|uc002twi.3,p.E15Q|NM_002552,p.E15Q	retained_intron, protein_coding, processed_transcript	uc021vqr.1	nonsynonymous SNV	exon3	c.G43C	p.E15Q	SRKSKSNSLIHTECLSQVQRILRER	SRKSKSNSLIHTQCLSQVQRILRER	10.0	8.0	-	-	4196_2:148733485-148733485 C>G_SRKSKSNSLIHTQCLSQVQRILRER
1:220752811-220752811 A>T	1.0	4196	COLON	-	-	-	-	MARK1	uc001hmm.4,p.H56L|NM_001286124,p.H56L|uc010pun.2,p.H56L|NM_018650,p.H56L|NM_001286128,p.H56L|ENST00000366918,p.H56L|ENST00000366917,p.H56L|uc001hml.3,p.H56L|uc009xdw.3,p.H56L|uc001hmn.4,p.H56L|NM_001286129,p.H56L|NM_001286126,p.H56L	protein_coding, processed_transcript	uc010pun.2	nonsynonymous SNV	exon2	c.A167T	p.H56L	RNSITSATDEQPHIGNYRLQKTIGK	RNSITSATDEQPLIGNYRLQKTIGK	9.0	9.0	-	-	4196_1:220752811-220752811 A>T_RNSITSATDEQPLIGNYRLQKTIGK
3:101038613-101038613 G>C	1.0	4196	COLON	-	-	-	-	IMPG2	NM_016247,p.P50R|uc003duq.2,p.P50R|ENST00000193391,p.P50R	protein_coding	uc003duq.2	nonsynonymous SNV	exon2	c.C149G	p.P50R	IQEPKSAVSFLLPEESTDLSLATKK	IQEPKSAVSFLLREESTDLSLATKK	4.0	10.0	-	-	4196_3:101038613-101038613 G>C_IQEPKSAVSFLLREESTDLSLATKK
1:6653598-6653598 T>G	1.0	4196	COLON	-	-	-	-	KLHL21	uc009vme.3,p.S174R|ENST00000377658,p.S541R|ENST00000496707,p.S174R|ENST00000467612,p.S174R|NM_014851,p.S541R|uc001aoa.3,p.S541R	protein_coding	uc009vme.3	nonsynonymous SNV	exon4	c.A520C	p.S174R	VVEAYDPETRAWSVVGRLPEPTFWH	VVEAYDPETRAWRVVGRLPEPTFWH	6.0	3.0	unscreened	-	4196_1:6653598-6653598 T>G_VVEAYDPETRAWRVVGRLPEPTFWH
X:9905652-9905652 C>T	0.0	4196	COLON	-	-	-	-	SHROOM2	ENST00000452575,p.H191Y|uc004csw.1,p.H191Y|uc004csu.1,p.H1356Y|uc004csv.2,p.H191Y|ENST00000380913,p.H1356Y|uc011mic.1,p.H191Y|ENST00000418909,p.H191Y|NM_001649,p.H1356Y	protein_coding, processed_transcript	uc011mic.1	nonsynonymous SNV	exon3	c.C571T	p.H191Y	MDLMEGIFPKDEHLLEEAQQRRKLL	MDLMEGIFPKDEYLLEEAQQRRKLL	6.0	7.0	-	-	4196_X:9905652-9905652 C>T_MDLMEGIFPKDEYLLEEAQQRRKLL
1:151396579-151396579 C>T	1.0	4196	COLON	-	-	-	-	POGZ	ENST00000361398,p.V404M|uc001eyd.2,p.V457M|ENST00000271715,p.V457M|NM_015100,p.V457M|ENST00000491586,p.V404M|uc010pdc.2,p.V395M|NM_145796,p.V362M|uc021oyq.1,p.V404M|NM_001194937,p.V448M|NM_001194938,p.V395M|uc010pdb.2,p.V448M|ENST00000409503,p.V448M|ENST00000368863,p.V362M|ENST00000531094,p.V395M|NM_207171,p.V404M|uc001eyf.2,p.V404M|ENST00000392723,p.V404M|uc009wmv.2,p.V362M	retained_intron, protein_coding, nonsense_mediated_decay	uc021oyq.1	nonsynonymous SNV	exon7	c.G1210A	p.V404M	SPPTKVPEPNENVGDAVQTKLIMLV	SPPTKVPEPNENMGDAVQTKLIMLV	9.0	2.0	unscreened	-	4196_1:151396579-151396579 C>T_SPPTKVPEPNENMGDAVQTKLIMLV
2:179482603-179482603 T>G	1.0	4196	COLON	-	-	-	-	TTN	ENST00000460472,p.E6760D|ENST00000342992,p.E13257D|ENST00000342175,p.E6952D|uc021vsy.2,p.E13257D|NM_003319,p.E6760D|uc021vsz.2,p.E6952D|ENST00000591111,p.E14184D|NM_133437,p.E6952D|NM_001267550,p.E15825D|ENST00000589042,p.E15825D|NM_133378,p.E13257D|uc021vtb.2,p.E6760D|NM_133432,p.E6885D|uc031rqd.1,p.E14184D|NM_001256850,p.E14184D|uc021vta.2,p.E6885D|ENST00000359218,p.E6885D|uc031rqc.1,p.E15825D	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon203	c.A42552C	p.E14184D	AEDLSATVTDVVEGQEYSFRVRAQN	AEDLSATVTDVVDGQEYSFRVRAQN	7.0	1.0	unscreened	-	4196_2:179482603-179482603 T>G_AEDLSATVTDVVDGQEYSFRVRAQN
6:31778497-31778497 C>T	1.0	4196	COLON	-	-	ID=COSM3783977;OCCURENCE=1(prostate)	-	HSPA1L	NM_005527,p.R418H|uc021yuz.1,p.R418H|ENST00000375654,p.R418H|uc003nxh.3,p.R418H|uc010jte.3,p.R418H|ENST00000417199,p.R418H	protein_coding	uc021yuz.1	nonsynonymous SNV	exon1	c.G1253A	p.R418H	ETAGGVMTALIKRNSTIPTKQTQIF	ETAGGVMTALIKHNSTIPTKQTQIF	7.0	3.0	-	-	4196_6:31778497-31778497 C>T_ETAGGVMTALIKHNSTIPTKQTQIF
1:67340613-67340613 T>A	0.0	4196	COLON	-	-	-	-	WDR78	NM_024763,p.Q217H|ENST00000371022,p.Q217H|ENST00000371026,p.Q217H|NM_207014,p.Q217H|uc001dcx.3,p.Q217H|uc001dcy.3,p.Q217H|ENST00000371023,p.Q217H	protein_coding, processed_transcript, nonsense_mediated_decay	uc001dcy.3	nonsynonymous SNV	exon5	c.A651T	p.Q217H	YKRERLTSFTDLQVIRAAPEKIVTK	YKRERLTSFTDLHVIRAAPEKIVTK	7.0	5.0	-	-	4196_1:67340613-67340613 T>A_YKRERLTSFTDLHVIRAAPEKIVTK
16:57789373-57789374 TG>-	1.0	4196	COLON	-	-	-	-	KATNB1	ENST00000379661,p.T511fs|uc002eml.1,p.T511fs|NM_005886,p.T511fs	retained_intron, protein_coding	uc002eml.1	frameshift deletion	exon16	c.1533_1534del	p.T511fs	CVVLTSRHKNLDTVRAVWTMGDIKT	CVVLTSRHKNLDTAGCVDHGRHQDVGGLRCGHQRPVGGGGPPEHRQPESLPVEAGPVHHRPATD	8.0	9.0	-	-	4196_16:57789373-57789374 TG>-_CVVLTSRHKNLDTAGCVDHGRHQDVGGLRCGHQRPVGGGGPPEHRQPESLPVEAGPVHHRPATD
4:173734798-173734798 T>A	0.0	4196	COLON	-	-	-	-	GALNTL6	uc003isv.3,p.F283I|NM_001034845,p.F283I|ENST00000506823,p.F283I|ENST00000508122,p.F266I	protein_coding, processed_transcript	uc003isv.3	nonsynonymous SNV	exon7	c.T847A	p.F283I	YEAQAGDAMRGAFDWEMYYKRIPIP	YEAQAGDAMRGAIDWEMYYKRIPIP	4.0	5.0	-	-	4196_4:173734798-173734798 T>A_YEAQAGDAMRGAIDWEMYYKRIPIP
2:214182043-214182043 T>G	1.0	4196	COLON	-	-	-	-	SPAG16	NM_001025436,p.L167V|ENST00000432529,p.L167V|uc002veo.4,p.L167V	protein_coding, processed_transcript, nonsense_mediated_decay	uc002veo.4	nonsynonymous SNV	exon5	c.T499G	p.L167V	TQIMLLENENKNLKKDLKHYKQAAE	TQIMLLENENKNVKKDLKHYKQAAE	7.0	3.0	unscreened	-	4196_2:214182043-214182043 T>G_TQIMLLENENKNVKKDLKHYKQAAE
2:214182043-214182043 T>G	1.0	4196	COLON	-	-	-	-	SPAG16	uc002ver.4,p.L113V|uc002veq.4,p.L167V|NM_024532,p.L167V|uc002ves.1,p.L136V|ENST00000374309,p.L73V|ENST00000331683,p.L167V|ENST00000447990,p.L167V|ENST00000272898,p.L167V|uc010zjk.3,p.L73V|ENST00000413312,p.L136V	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zjk.3	nonsynonymous SNV	exon4	c.T217G	p.L73V	TQIMLLENENKNLKKDLKHYKQAAD	TQIMLLENENKNVKKDLKHYKQAAD	7.0	3.0	-	-	4196_2:214182043-214182043 T>G_TQIMLLENENKNVKKDLKHYKQAAD
6:119288068-119288068 C>G	0.0	4196	COLON	-	-	-	-	FAM184A	ENST00000352896,p.D820H|NM_001288576,p.D820H|NM_001100411,p.D820H|ENST00000338891,p.D989H|uc003pyj.3,p.D989H|ENST00000521043,p.D152H|ENST00000368475,p.D820H|NM_024581,p.D989H|uc003pyk.4,p.D820H|ENST00000368472,p.D50H|uc003pyl.4,p.D820H|ENST00000521531,p.D940H	retained_intron, protein_coding, nonsense_mediated_decay	uc003pyl.4	nonsynonymous SNV	exon14	c.G2458C	p.D820H	EEKYLMRESKPEDIQMITELKAMLT	EEKYLMRESKPEHIQMITELKAMLT	6.0	8.0	-	-	4196_6:119288068-119288068 C>G_EEKYLMRESKPEHIQMITELKAMLT
8:97797235-97797235 A>C	1.0	4196	COLON	-	-	-	-	CPQ	ENST00000517742,p.K37T|uc010mbe.2,p.K37T|ENST00000521142,p.K37T|uc003yhw.3,p.K37T|ENST00000519900,p.K37T|ENST00000519484,p.K37T|ENST00000220763,p.K37T|NM_016134,p.K37T	protein_coding, processed_transcript	uc010mbe.2	nonsynonymous SNV	exon1	c.A110C	p.K37T	KNGISKRTFEEIKEEIASCGDVAKA	KNGISKRTFEEITEEIASCGDVAKA	7.0	10.0	-	-	4196_8:97797235-97797235 A>C_KNGISKRTFEEITEEIASCGDVAKA
9:69389964-69389964 C>T	1.0	4196	COLON	-	-	-	-	ANKRD20A4	uc004afn.3,p.A173V|ENST00000357336,p.A173V|NM_001098805,p.A173V	retained_intron, protein_coding	uc004afn.3	nonsynonymous SNV	exon4	c.C518T	p.A173V	ALDKDNNTPLLFAIICKKEKMVEFL	ALDKDNNTPLLFVIICKKEKMVEFL	7.0	8.0	unscreened	-	4196_9:69389964-69389964 C>T_ALDKDNNTPLLFVIICKKEKMVEFL
2:166744943-166744943 C>T	1.0	4196	COLON	-	-	-	-	TTC21B	ENST00000536175,p.R40K|NM_024753,p.R1102K|ENST00000243344,p.R1102K|uc002udk.3,p.R1102K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002udk.3	nonsynonymous SNV	exon25	c.G3305A	p.R1102K	STEKQESVQLAVRTAEKLLKELKPQ	STEKQESVQLAVKTAEKLLKELKPQ	9.0	4.0	-	-	4196_2:166744943-166744943 C>T_STEKQESVQLAVKTAEKLLKELKPQ
17:55189857-55189857 C>G	1.0	4196	COLON	-	-	-	-	AKAP1	uc010dcm.3,p.Q661E|ENST00000571629,p.Q661E|NM_003488,p.Q661E|uc021uak.1,p.Q661E|uc010wnl.2,p.Q661E|NM_001242903,p.Q661E|ENST00000573326,p.Q243E|ENST00000337714,p.Q661E|NM_001242902,p.Q661E|ENST00000539273,p.Q661E|uc002iux.3,p.Q661E|ENST00000572557,p.Q661E	protein_coding, nonsense_mediated_decay	uc021uak.1	nonsynonymous SNV	exon6	c.C1981G	p.Q661E	TQSVQICHIEGSQHHVDKALNLIGK	TQSVQICHIEGSEHHVDKALNLIGK	10.0	9.0	-	-	4196_17:55189857-55189857 C>G_TQSVQICHIEGSEHHVDKALNLIGK
1:196871625-196871625 G>A	0.0	4196	COLON	-	-	-	-	CFHR4	uc001gtp.3,p.A46T|NM_001201551,p.A45T|uc009wyy.3,p.A45T|NM_006684,p.A46T|ENST00000367416,p.A45T|NM_001201550,p.A46T|uc001gto.3,p.A46T|ENST00000251424,p.A46T	protein_coding	uc009wyy.3	nonsynonymous SNV	exon2	c.G133A	p.A45T	LYYKSLRRLYFPAAAGQSYSYYCDQ	LYYKSLRRLYFPTAAGQSYSYYCDQ	4.0	2.0	unscreened	-	4196_1:196871625-196871625 G>A_LYYKSLRRLYFPTAAGQSYSYYCDQ
10:44112052-44112052 A>C	1.0	4196	COLON	-	-	-	-	ZNF485	NM_145312,p.R187S|ENST00000374435,p.R187S|uc010qfd.2,p.R96S|uc010qfc.2,p.R187S|ENST00000374437,p.R96S|ENST00000361807,p.R187S	retained_intron, protein_coding	uc010qfd.2	nonsynonymous SNV	exon3	c.A288C	p.R96S	NHHKVHAGKQPYRCIECGKFLKKHS	NHHKVHAGKQPYSCIECGKFLKKHS	7.0	7.0	-	-	4196_10:44112052-44112052 A>C_NHHKVHAGKQPYSCIECGKFLKKHS
X:24228853-24228853 C>T	1.0	4196	COLON	-	-	ID=COSM1119454;OCCURENCE=1(endometrium)	-	ZFX	uc010nfz.3,p.T249M|ENST00000379188,p.T593M|uc004dbd.2,p.T593M|NM_001178085,p.T593M|ENST00000540034,p.T632M|NM_001178086,p.T364M|NM_001178084,p.T593M|uc010nfx.2,p.T364M|ENST00000539115,p.T364M|ENST00000379177,p.T593M|ENST00000338565,p.T543M|ENST00000304543,p.T593M|uc022bua.1,p.T593M|uc011mjv.2,p.T632M|NM_003410,p.T593M|uc004dbf.3,p.T593M	protein_coding, processed_transcript	uc022bua.1	nonsynonymous SNV	exon8	c.C1778T	p.T593M	CEYRSADSSNLKTHVKTKHSKEMPF	CEYRSADSSNLKMHVKTKHSKEMPF	9.0	6.0	-	-	4196_X:24228853-24228853 C>T_CEYRSADSSNLKMHVKTKHSKEMPF
17:10363406-10363406 C>T	0.0	4196	COLON	-	-	-	-	MYH4	uc002gmn.3,p.V427M|ENST00000255381,p.V427M|NM_017533,p.V427M	protein_coding	uc002gmn.3	nonsynonymous SNV	exon14	c.G1279A	p.V427M	TKGQTVQQVYNAVGALAKAIYEKMF	TKGQTVQQVYNAMGALAKAIYEKMF	5.0	9.0	-	-	4196_17:10363406-10363406 C>T_TKGQTVQQVYNAMGALAKAIYEKMF
2:163374650-163374650 T>G	0.0	4196	COLON	-	-	-	-	KCNH7	NM_173162,p.K161T|uc002uch.2,p.K161T|uc002uci.3,p.K161T|NM_033272,p.K161T|ENST00000328032,p.K161T|ENST00000332142,p.K161T	protein_coding, processed_transcript	uc002uci.3	nonsynonymous SNV	exon4	c.A482C	p.K161T	PIKTVNRKFFGFKFPGLRVLTYRKQ	PIKTVNRKFFGFTFPGLRVLTYRKQ	3.0	5.0	-	-	4196_2:163374650-163374650 T>G_PIKTVNRKFFGFTFPGLRVLTYRKQ
12:81239651-81239651 G>A	0.0	4196	COLON	-	-	-	-	LIN7A	NM_004664,p.T114I|ENST00000549417,p.T108I|uc001szj.1,p.T114I|ENST00000552864,p.T114I	protein_coding, nonsense_mediated_decay	uc001szj.1	nonsynonymous SNV	exon4	c.C341T	p.T114I	GHSHPRVVELPKTDEGLGFNVMGGK	GHSHPRVVELPKIDEGLGFNVMGGK	6.0	5.0	-	-	4196_12:81239651-81239651 G>A_GHSHPRVVELPKIDEGLGFNVMGGK
1:162302895-162302895 G>A	1.0	4196	COLON	-	-	ID=COSM1290024,COSM1290025;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	NOS1AP	uc010pkr.1,p.V140I|ENST00000530878,p.V140I|uc001gbv.2,p.V145I|NM_014697,p.V145I|NM_001164757,p.V140I|ENST00000361897,p.V145I|uc001gbw.2,p.V140I|ENST00000430120,p.V140I	protein_coding, processed_transcript, nonsense_mediated_decay	uc010pkr.1	nonsynonymous SNV	exon5	c.G418A	p.V140I	ARDGASNIFRCNVFKSKKKSQAMRI	ARDGASNIFRCNIFKSKKKSQAMRI	8.0	6.0	-	-	4196_1:162302895-162302895 G>A_ARDGASNIFRCNIFKSKKKSQAMRI
17:80333257-80333257 C>T	1.0	4196	COLON	-	-	-	-	UTS2R	NM_018949,p.R353C|uc010wvl.2,p.R353C|ENST00000313135,p.R353C	protein_coding	uc010wvl.2	nonsynonymous SNV	exon1	c.C1057T	p.R353C	PVPSLQPRARFQRCSGRSLSSCSPQ	PVPSLQPRARFQCCSGRSLSSCSPQ	4.0	9.0	-	-	4196_17:80333257-80333257 C>T_PVPSLQPRARFQCCSGRSLSSCSPQ
19:2117225-2117225 C>T	1.0	4196	COLON	-	-	ID=COSM3937962,COSM3937961,COSM3937963;OCCURENCE=1(oesophagus)	-	AP3D1	ENST00000356926,p.E528K|uc031riw.1,p.E347K|ENST00000355272,p.E619K|NM_003938,p.E619K|uc002luz.4,p.E619K|ENST00000350812,p.E450K|ENST00000345016,p.E619K|uc002lva.4,p.E619K|NM_001261826,p.E619K	retained_intron, protein_coding, processed_transcript	uc031riw.1	nonsynonymous SNV	exon9	c.G1039A	p.E347K	VAPKAQKKVPVPEGLDLDAWINEPL	VAPKAQKKVPVPKGLDLDAWINEPL	9.0	7.0	-	-	4196_19:2117225-2117225 C>T_VAPKAQKKVPVPKGLDLDAWINEPL
19:55253513-55253513 T>G	0.0	4196	COLON	-	-	-	-	KIR2DL3	ENST00000342376,p.V53G|uc002qgx.3,p.V53G|NM_015868,p.V53G|uc010erw.1,p.V53G|ENST00000434419,p.V53G	protein_coding	uc010erw.1	nonsynonymous SNV	exon3	c.T158G	p.V53G	SEETVILQCWSDVRFQHFLLHREGK	SEETVILQCWSDGRFQHFLLHREGK	4.0	3.0	-	-	4196_19:55253513-55253513 T>G_SEETVILQCWSDGRFQHFLLHREGK
17:42850644-42850644 C>A	1.0	4196	COLON	-	-	-	-	ADAM11	uc010wjd.2,p.L81I|ENST00000535346,p.L81I|ENST00000200557,p.L281I|ENST00000587773,p.L175I|NM_002390,p.L281I|uc002ihh.3,p.L281I	retained_intron, protein_coding, nonsense_mediated_decay	uc010wjd.2	nonsynonymous SNV	exon11	c.C241A	p.L81I	VVNLADVIYKEQLNTRIVLVAMETW	VVNLADVIYKEQINTRIVLVAMETW	4.0	1.0	unscreened	-	4196_17:42850644-42850644 C>A_VVNLADVIYKEQINTRIVLVAMETW
8:100975135-100975137 TTC>-	0.0	4196	COLON	-	-	-	-	RGS22	ENST00000523287,p.1048_1048del|ENST00000360863,p.1229_1229del|NM_001286692,p.1217_1217del|uc003yjb.1,p.1229_1229del|uc003yjc.1,p.1217_1217del|uc003yja.1,p.1048_1048del|uc022azf.1,p.618_618del|NM_001286693,p.1048_1048del|ENST00000523437,p.1217_1217del|NM_015668,p.1229_1229del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022azf.1	nonframeshift deletion	exon14	c.1852_1854del	p.618_618del	LEQERILLKIQEELEKKLFAGLQPL	LEQERILLKIQELEKKLFAGLQPLT	5.0	4.0	-	-	4196_8:100975135-100975137 TTC>-_LEQERILLKIQELEKKLFAGLQPLT
X:48923315-48923315 G>A	1.0	4196	COLON	-	-	-	-	CCDC120	uc004dmf.4,p.E299K|NM_033626,p.E299K|NM_001163321,p.E334K|uc010nik.4,p.E299K|NM_001271836,p.E299K|ENST00000603986,p.E334K|ENST00000376396,p.E299K|ENST00000496529,p.E299K|NM_001271835,p.E299K|ENST00000422185,p.E299K|uc011mms.3,p.E287K|NM_001163323,p.E287K|NM_001163322,p.E287K|uc011mmq.3,p.E287K|uc010nil.4,p.E299K|ENST00000536628,p.E287K|ENST00000597275,p.E299K	protein_coding, processed_transcript	uc011mms.3	nonsynonymous SNV	exon9	c.G859A	p.E287K	PTRSLPRSASSFEGRSVPATPVLTR	PTRSLPRSASSFKGRSVPATPVLTR	7.0	10.0	-	-	4196_X:48923315-48923315 G>A_PTRSLPRSASSFKGRSVPATPVLTR
2:189907896-189907896 T>C	0.0	4196	COLON	-	-	-	-	COL5A2	uc010frx.3,p.Q727R|NM_000393,p.Q1151R|ENST00000374866,p.Q1151R|uc002uqk.3,p.Q1151R	retained_intron, protein_coding	uc010frx.3	nonsynonymous SNV	exon32	c.A2180G	p.Q727R	RGQKGHRGFTGLQGLPGPPGPNGEQ	RGQKGHRGFTGLRGLPGPPGPNGEQ	9.0	1.0	unscreened	-	4196_2:189907896-189907896 T>C_RGQKGHRGFTGLRGLPGPPGPNGEQ
5:127648347-127648347 T>C	1.0	4196	COLON	-	-	-	-	FBN2	ENST00000508053,p.T1620A|uc003kuu.3,p.T1620A|NM_001999,p.T1620A|ENST00000262464,p.T1620A	retained_intron, protein_coding, processed_transcript	uc003kuu.3	nonsynonymous SNV	exon37	c.A4858G	p.T1620A	CSLGKAWGNPCETCPPVNSTEYYTL	CSLGKAWGNPCEACPPVNSTEYYTL	5.0	9.0	-	-	4196_5:127648347-127648347 T>C_CSLGKAWGNPCEACPPVNSTEYYTL
6:36982439-36982439 T>A	0.0	4196	COLON	-	-	-	-	FGD2	NM_173558,p.F281I|uc010jwp.1,p.F281I|uc003oni.1,p.F87I|ENST00000274963,p.F281I	retained_intron, protein_coding, nonsense_mediated_decay	uc010jwp.1	nonsynonymous SNV	exon7	c.T841A	p.F281I	DQADAQKALDMIFSAAQHSNAAITE	DQADAQKALDMIISAAQHSNAAITE	7.0	3.0	-	-	4196_6:36982439-36982439 T>A_DQADAQKALDMIISAAQHSNAAITE
14:57938299-57938299 T>A	0.0	4196	COLON	-	-	-	-	C14orf105	uc010trl.1,p.K262M|NM_001283056,p.K262M|ENST00000422976,p.K262M	retained_intron, protein_coding, nonsense_mediated_decay	uc010trl.1	nonsynonymous SNV	exon7	c.A785T	p.K262M	SASRVAGITGNSKNTEFLKHQAVNN	SASRVAGITGNSMNTEFLKHQAVNN	5.0	8.0	-	-	4196_14:57938299-57938299 T>A_SASRVAGITGNSMNTEFLKHQAVNN
12:49438282-49438282 C>T	1.0	4196	COLON	0.0005	-	-	1	KMT2D	ENST00000301067,p.E1663K|NM_003482,p.E1663K|uc001rta.4,p.E1663K	retained_intron, protein_coding, processed_transcript	uc001rta.4	nonsynonymous SNV	exon20	c.G4987A	p.E1663K	LKGEGGVEHMECEIKLEGPVSPDVE	LKGEGGVEHMECKIKLEGPVSPDVE	9.0	10.0	-	-	4196_12:49438282-49438282 C>T_LKGEGGVEHMECKIKLEGPVSPDVE
10:23729105-23729105 ->T	1.0	4196	COLON	-	-	-	-	OTUD1	NM_001145373,p.G240fs|uc001irr.2,p.G240fs|ENST00000376495,p.G240fs	protein_coding	uc001irr.2	frameshift insertion	exon1	c.719_720insT	p.G240fs	HLAERGPRGWERGGDRCDAPGGDAA	HLAERGPRGWERGRRSLRRARWGRGAEARPRGRGTPRREHRGRPE	6.0	1.0	unscreened	-	4196_10:23729105-23729105 ->T_HLAERGPRGWERGRRSLRRARWGRGAEARPRGRGTPRREHRGRPE
10:55973754-55973754 A>C	0.0	4196	COLON	-	-	ID=COSM269833,COSM269831,COSM269832;OCCURENCE=1(large_intestine)	-	PCDH15	NM_001142767,p.L310R|uc021pqx.1,p.L347R|uc010qhx.1,p.L347R|NM_001142764,p.L347R|NM_033056,p.L347R|NM_001142768,p.L325R|ENST00000437009,p.L347R|ENST00000395440,p.L347R|uc021pqw.1,p.L352R|uc001jjw.3,p.L347R|ENST00000414778,p.L352R|ENST00000320301,p.L347R|ENST00000373965,p.L347R|uc010qib.1,p.L325R|uc010qia.1,p.L325R|NM_001142766,p.L347R|ENST00000373957,p.L325R|ENST00000361849,p.L347R|uc010qhz.1,p.L347R|uc010qhw.1,p.L310R|NM_001142773,p.L325R|uc001jju.1,p.L347R|ENST00000448885,p.L347R|ENST00000395442,p.L347R|uc010qhy.1,p.L352R|ENST00000395433,p.L325R|uc021pqv.1,p.L347R|uc010qhv.1,p.L347R|uc010qht.2,p.L347R|uc021pqz.1,p.L325R|ENST00000395445,p.L347R|uc021pqy.1,p.L347R|ENST00000395432,p.L310R|ENST00000395446,p.L347R|uc010qhq.2,p.L352R|ENST00000395430,p.L347R|ENST00000373955,p.L347R|NM_001142765,p.L347R|NM_001142763,p.L352R|uc010qhr.2,p.L347R|uc001jjv.1,p.L325R|ENST00000395438,p.L347R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqz.1	nonsynonymous SNV	exon8	c.T974G	p.L325R	PRFFHMHPRTAELSLLEPVNRDFHQ	PRFFHMHPRTAERSLLEPVNRDFHQ	6.0	1.0	unscreened	-	4196_10:55973754-55973754 A>C_PRFFHMHPRTAERSLLEPVNRDFHQ
16:3255067-3255067 C>G	0.0	4196	COLON	-	-	-	-	OR1F1	uc010uwu.2,p.A274G|NM_012360,p.A274G|ENST00000304646,p.A274G	protein_coding	uc010uwu.2	nonsynonymous SNV	exon1	c.C821G	p.A274G	PLSSHSAEKDTMATVLYTVVTPMLN	PLSSHSAEKDTMGTVLYTVVTPMLN	3.0	7.0	-	-	4196_16:3255067-3255067 C>G_PLSSHSAEKDTMGTVLYTVVTPMLN
11:48238657-48238657 T>C	0.0	4196	COLON	-	-	-	-	OR4B1	NM_001005470,p.I99T|ENST00000309562,p.I99T|uc010rhs.2,p.I99T	protein_coding	uc010rhs.2	nonsynonymous SNV	exon1	c.T296C	p.I99T	IKTISLEGCLTQIFFFHFFGVAEIL	IKTISLEGCLTQTFFFHFFGVAEIL	3.0	9.0	-	-	4196_11:48238657-48238657 T>C_IKTISLEGCLTQTFFFHFFGVAEIL
X:152770774-152770774 G>A	1.0	4196	COLON	-	-	-	-	BGN	ENST00000431891,p.R106H	protein_coding, processed_transcript	ENST00000431891	nonsynonymous SNV	exon3	c.G317A	p.R106H	LLDLQNNDISELRKDDFKGLQHLYV	LLDLQNNDISELHKDDFKGLQHLYV	10.0	9.0	unscreened	-	4196_X:152770774-152770774 G>A_LLDLQNNDISELHKDDFKGLQHLYV
X:152770774-152770774 G>A	1.0	4196	COLON	-	-	-	-	BGN	ENST00000331595,p.R106H|NM_001711,p.R106H|ENST00000370204,p.R45H|uc004fhr.2,p.R106H	protein_coding, processed_transcript	uc004fhr.2	nonsynonymous SNV	exon3	c.G317A	p.R106H	LLDLQNNDISELRKDDFKGLQHLYA	LLDLQNNDISELHKDDFKGLQHLYA	10.0	9.0	-	-	4196_X:152770774-152770774 G>A_LLDLQNNDISELHKDDFKGLQHLYA
7:150935232-150935232 T>G	1.0	4196	COLON	-	-	-	-	CHPF2	uc003wjr.1,p.V595G|uc003wjq.1,p.V587G|NM_019015,p.V595G|ENST00000035307,p.V595G|ENST00000495645,p.V587G|NM_001284295,p.V587G	protein_coding, nonsense_mediated_decay	uc003wjr.1	nonsynonymous SNV	exon4	c.T1784G	p.V595G	KHPVDTLFFLTTVWTRPGPEVLNRC	KHPVDTLFFLTTGWTRPGPEVLNRC	7.0	4.0	unscreened	-	4196_7:150935232-150935232 T>G_KHPVDTLFFLTTGWTRPGPEVLNRC
12:40722227-40722227 T>C	0.0	4196	COLON	-	-	-	-	LRRK2	uc001rmi.3,p.F741L|uc009zjw.3,p.F746L|NM_198578,p.F1908L|ENST00000298910,p.F1908L|uc001rmg.4,p.F1908L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zjw.3	nonsynonymous SNV	exon18	c.T2236C	p.F746L	AAYEGEEVAVKIFNKHTSLRLLRQE	AAYEGEEVAVKILNKHTSLRLLRQE	8.0	2.0	unscreened	-	4196_12:40722227-40722227 T>C_AAYEGEEVAVKILNKHTSLRLLRQE
9:69389996-69389996 T>C	1.0	4196	COLON	-	-	-	-	ANKRD20A4	NM_001098805,p.F184L|ENST00000357336,p.F184L|uc004afn.3,p.F184L	retained_intron, protein_coding	uc004afn.3	nonsynonymous SNV	exon4	c.T550C	p.F184L	FAIICKKEKMVEFLLKKKASSHAVD	FAIICKKEKMVELLLKKKASSHAVD	7.0	6.0	unscreened	-	4196_9:69389996-69389996 T>C_FAIICKKEKMVELLLKKKASSHAVD
2:217279573-217279573 C>A	1.0	4196	COLON	-	-	-	-	SMARCAL1	NM_014140,p.A49D|ENST00000358207,p.A49D|ENST00000430374,p.A49D|uc002vgc.4,p.A49D|ENST00000357276,p.A49D|ENST00000434435,p.A49D|uc010fvg.3,p.A49D|ENST00000444508,p.A49D|NM_001127207,p.A49D|uc002vgd.4,p.A49D	retained_intron, protein_coding, processed_transcript	uc010fvg.3	nonsynonymous SNV	exon1	c.C146A	p.A49D	SSGTSIAGNPFQAKQGPSQNFPRES	SSGTSIAGNPFQDKQGPSQNFPRES	9.0	2.0	unscreened	-	4196_2:217279573-217279573 C>A_SSGTSIAGNPFQDKQGPSQNFPRES
14:57938299-57938299 T>A	0.0	4196	COLON	-	-	-	-	C14orf105	uc001xcy.2,p.K222M|uc010trn.1,p.K133M|NM_001283059,p.K133M|NM_001283057,p.K221M|NM_001283058,p.K133M|ENST00000534126,p.K221M|ENST00000216445,p.K222M|uc001xcz.2,p.K221M|uc010trm.1,p.K133M|NM_018168,p.K222M	retained_intron, protein_coding, nonsense_mediated_decay	uc010trn.1	nonsynonymous SNV	exon6	c.A398T	p.K133M	PDEILNRGPGNSKNTEFLKHQAVNN	PDEILNRGPGNSMNTEFLKHQAVNN	5.0	8.0	-	-	4196_14:57938299-57938299 T>A_PDEILNRGPGNSMNTEFLKHQAVNN
11:119986062-119986062 C>T	1.0	4196	COLON	-	-	-	-	TRIM29	ENST00000529044,p.G302D|ENST00000541857,p.G296D|ENST00000533302,p.G144D|uc001pwz.3,p.G563D|ENST00000528870,p.G96D|NM_012101,p.G563D|ENST00000524816,p.G129D|ENST00000341846,p.G563D|uc010rzj.2,p.G296D|uc010rzi.2,p.G302D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rzj.2	nonsynonymous SNV	exon8	c.G887A	p.G296D	QSPKAQPQTWKSGKQTMLSHYRPFY	QSPKAQPQTWKSDKQTMLSHYRPFY	7.0	1.0	unscreened	-	4196_11:119986062-119986062 C>T_QSPKAQPQTWKSDKQTMLSHYRPFY
13:38357308-38357308 C>G	0.0	4196	COLON	-	-	-	-	TRPC4	uc010abx.3,p.A55P|ENST00000358477,p.A55P|NM_003306,p.A55P|uc010tey.2,p.A55P|ENST00000379673,p.A55P|uc010aby.3,p.A55P|uc010abw.3,p.A55P|NM_016179,p.A55P|ENST00000447043,p.A55P|ENST00000379681,p.A55P|NM_001135956,p.A55P|NM_001135958,p.A55P|NM_001135955,p.A55P|ENST00000488717,p.A55P|ENST00000426868,p.A55P|ENST00000379705,p.A55P|ENST00000355779,p.A55P|ENST00000379679,p.A55P|ENST00000338947,p.A55P|uc001uwt.3,p.A55P|NM_001135957,p.A55P|uc001uws.3,p.A55P	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tey.2	nonsynonymous SNV	exon2	c.G163C	p.A55P	GDYASVKKSLEEAEIYFKININCID	GDYASVKKSLEEPEIYFKININCID	5.0	4.0	-	-	4196_13:38357308-38357308 C>G_GDYASVKKSLEEPEIYFKININCID
11:92531682-92531682 A>C	0.0	4196	COLON	-	-	-	2	FAT3	uc001pdj.4,p.T1835P|ENST00000409404,p.T1835P|ENST00000525166,p.T1685P|NM_001008781,p.T1835P|ENST00000298047,p.T1835P	retained_intron, protein_coding, processed_transcript	uc001pdj.4	nonsynonymous SNV	exon9	c.A5503C	p.T1835P	FFTVDSSTGAIRTIANLDHETIAHF	FFTVDSSTGAIRPIANLDHETIAHF	5.0	1.0	unscreened	-	4196_11:92531682-92531682 A>C_FFTVDSSTGAIRPIANLDHETIAHF
2:215797443-215797443 T>G	0.0	4196	COLON	-	-	-	-	ABCA12	uc002vev.3,p.D2250A|ENST00000272895,p.D2568A|NM_173076,p.D2568A|uc010zjn.2,p.D1495A|uc002vew.3,p.D2568A|NM_015657,p.D2250A|ENST00000389661,p.D2250A	protein_coding	uc010zjn.2	nonsynonymous SNV	exon55	c.A4484C	p.D1495A	TTLEEVFINFAKDQKSYETADTSSQ	TTLEEVFINFAKAQKSYETADTSSQ	5.0	2.0	unscreened	-	4196_2:215797443-215797443 T>G_TTLEEVFINFAKAQKSYETADTSSQ
6:56484463-56484463 G>T	1.0	4196	COLON	-	-	-	-	DST	uc003pdc.4,p.Q1457K|ENST00000370765,p.Q1457K|NM_001723,p.Q1457K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pdc.4	nonsynonymous SNV	exon23	c.C4369A	p.Q1457K	LNQTTGKAEEAMQEASDLKKIKRNY	LNQTTGKAEEAMKEASDLKKIKRNY	10.0	7.0	-	-	4196_6:56484463-56484463 G>T_LNQTTGKAEEAMKEASDLKKIKRNY
10:7708773-7708773 G>A	0.0	4196	COLON	-	-	-	-	ITIH5	uc001ijr.2,p.S28L|uc021pmv.1,p.S28L|ENST00000256861,p.S28L|ENST00000397146,p.S28L|NM_001001851,p.S28L|ENST00000397145,p.S28L|NM_030569,p.S28L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pmv.1	nonsynonymous SNV	exon1	c.C83T	p.S28L	GSQEEAQSWGHSSEQDGLRVPRQVR	GSQEEAQSWGHSLEQDGLRVPRQVR	6.0	8.0	-	-	4196_10:7708773-7708773 G>A_GSQEEAQSWGHSLEQDGLRVPRQVR
1:186326733-186326733 A>G	1.0	4196	COLON	-	-	-	1	TPR	NM_003292,p.L507P|uc010pop.2,p.L583P|ENST00000367478,p.L507P|uc001grv.3,p.L507P	retained_intron, protein_coding, processed_transcript	uc010pop.2	nonsynonymous SNV	exon15	c.T1748C	p.L583P	DLSQQIRVLLMELEEARGNHVIRDE	DLSQQIRVLLMEPEEARGNHVIRDE	10.0	3.0	-	-	4196_1:186326733-186326733 A>G_DLSQQIRVLLMEPEEARGNHVIRDE
3:179483601-179483601 A>C	1.0	4196	COLON	-	-	-	-	USP13	NM_003940,p.K793T|uc003fkh.3,p.K793T|ENST00000496897,p.K728T|ENST00000263966,p.K793T	protein_coding, processed_transcript, nonsense_mediated_decay	uc003fkh.3	nonsynonymous SNV	exon19	c.A2378C	p.K793T	ENNANANIISEAKPEGPRVKDGSGT	ENNANANIISEATPEGPRVKDGSGT	7.0	4.0	-	-	4196_3:179483601-179483601 A>C_ENNANANIISEATPEGPRVKDGSGT
17:16843096-16843096 G>A	0.0	4196	COLON	-	-	-	-	TNFRSF13B	uc002gqs.1,p.A216V|ENST00000583789,p.A170V|uc002gqt.1,p.A170V|ENST00000437538,p.A170V|NM_012452,p.A216V|ENST00000584950,p.A170V|ENST00000261652,p.A216V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gqt.1	nonsynonymous SNV	exon4	c.C509T	p.A170V	SPAKSSQDHAMEAGSPVSTSPEPVE	SPAKSSQDHAMEVGSPVSTSPEPVE	5.0	7.0	-	-	4196_17:16843096-16843096 G>A_SPAKSSQDHAMEVGSPVSTSPEPVE
1:157805671-157805671 T>G	0.0	4196	COLON	-	-	-	-	CD5L	ENST00000368174,p.E110D|NM_005894,p.E110D|uc001frk.4,p.E110D	protein_coding, processed_transcript	uc001frk.4	nonsynonymous SNV	exon3	c.A330C	p.E110D	GTEDTLAQCEQEEVYDCSHDEDAGA	GTEDTLAQCEQEDVYDCSHDEDAGA	4.0	3.0	-	-	4196_1:157805671-157805671 T>G_GTEDTLAQCEQEDVYDCSHDEDAGA
6:65301733-65301733 C>T	0.0	4196	COLON	-	-	ID=COSM3394274;OCCURENCE=1(pancreas)	-	EYS	NM_001142800,p.A1343T|ENST00000503581,p.A1343T|NM_001292009,p.A1343T|ENST00000370621,p.A1343T|uc011dxu.1,p.A1343T|ENST00000370616,p.A1343T|uc011dxt.1,p.A255T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxu.1	nonsynonymous SNV	exon26	c.G4027A	p.A1343T	RELSAKHSLLSSADVSSSRFLNFGI	RELSAKHSLLSSTDVSSSRFLNFGI	6.0	4.0	-	-	4196_6:65301733-65301733 C>T_RELSAKHSLLSSTDVSSSRFLNFGI
11:34120900-34120902 CAG>-	1.0	4196	COLON	-	-	-	-	CAPRIN1	uc001mvh.1,p.706_706del|uc001mvj.1,p.625_625del|uc001mvi.2,p.706_706del|ENST00000529307,p.625_625del|ENST00000341394,p.706_706del|NM_005898,p.706_706del|ENST00000532820,p.706_706del	protein_coding, processed_transcript, nonsense_mediated_decay	uc001mvj.1	nonframeshift deletion	exon18	c.1873_1875del	p.625_625del	PRPNRGMPQMNTQQVN	PRPNRGMPQMNTQVN	10.0	8.0	-	-	4196_11:34120900-34120902 CAG>-_PRPNRGMPQMNTQVN
2:198641827-198641827 C>T	0.0	4196	COLON	-	-	ID=COSM1404321,COSM1404320;OCCURENCE=1(breast),2(large_intestine),1(salivary_gland)	-	BOLL	ENST00000321801,p.V90I|uc002uut.2,p.V90I|NM_197970,p.V90I|NM_001284362,p.V84I|uc002uus.2,p.V78I|ENST00000430004,p.V78I|ENST00000392296,p.V78I|ENST00000433157,p.V78I|NM_033030,p.V78I|NM_001284361,p.V84I|uc002uuu.1,p.V84I|uc002uur.2,p.V84I	protein_coding, processed_transcript, nonsense_mediated_decay	uc002uuu.1	nonsynonymous SNV	exon4	c.G250A	p.V84I	NDRAGVSKGYGFVTFETQEDAQKIL	NDRAGVSKGYGFITFETQEDAQKIL	3.0	5.0	-	-	4196_2:198641827-198641827 C>T_NDRAGVSKGYGFITFETQEDAQKIL
18:65178280-65178280 T>A	0.0	4196	COLON	-	-	-	-	DSEL	uc002lke.1,p.D1199V|NM_032160,p.D1199V|uc021ulg.1,p.D1199V|ENST00000310045,p.D1199V	protein_coding	uc021ulg.1	nonsynonymous SNV	exon1	c.A3596T	p.D1199V	TNTNVWKQNLPRDEIKLIENICWTL	TNTNVWKQNLPRVEIKLIENICWTL	4.0	1.0	unscreened	-	4196_18:65178280-65178280 T>A_TNTNVWKQNLPRVEIKLIENICWTL
14:105414443-105414443 C>T	1.0	4196	COLON	-	-	-	-	AHNAK2	NM_138420,p.V2449M|uc010axc.1,p.V2449M|ENST00000333244,p.V2449M|uc001ypx.2,p.V2349M	retained_intron, protein_coding	uc010axc.1	nonsynonymous SNV	exon7	c.G7345A	p.V2449M	VMAPDVEVSQPSVEVDVEAPGAKLD	VMAPDVEVSQPSMEVDVEAPGAKLD	7.0	10.0	-	-	4196_14:105414443-105414443 C>T_VMAPDVEVSQPSMEVDVEAPGAKLD
19:7620240-7620240 G>A	1.0	4196	COLON	-	-	-	-	PNPLA6	uc002mgs.3,p.G975R|uc002mgq.2,p.G937R|ENST00000600737,p.G975R|ENST00000221249,p.G937R|uc002mgr.2,p.G937R|ENST00000545201,p.G910R|uc010xjp.2,p.G910R|ENST00000414982,p.G985R|ENST00000450331,p.G937R|NM_006702,p.G937R|NM_001166114,p.G975R|NM_001166111,p.G985R|NM_001166112,p.G910R|NM_001166113,p.G937R|uc010xjq.2,p.G985R	retained_intron, protein_coding, processed_transcript	uc010xjq.2	nonsynonymous SNV	exon25	c.G2953A	p.G985R	VLTGNTIALVLGGGGARGCSHIGVL	VLTGNTIALVLGRGGARGCSHIGVL	10.0	10.0	-	-	4196_19:7620240-7620240 G>A_VLTGNTIALVLGRGGARGCSHIGVL
12:43777728-43777728 A>G	0.0	4196	COLON	-	-	-	-	ADAMTS20	uc010skx.2,p.L1502P|NM_025003,p.L1502P|ENST00000389420,p.L1502P	protein_coding	uc010skx.2	nonsynonymous SNV	exon30	c.T4505C	p.L1502P	GSGVQQRDVYCRLKGVGQVVEEMCD	GSGVQQRDVYCRPKGVGQVVEEMCD	4.0	1.0	unscreened	-	4196_12:43777728-43777728 A>G_GSGVQQRDVYCRPKGVGQVVEEMCD
12:116443759-116443759 C>T	1.0	4196	COLON	-	-	-	-	MED13L	NM_015335,p.S795N|uc001tvw.3,p.S795N|ENST00000281928,p.S795N	retained_intron, protein_coding, processed_transcript	uc001tvw.3	nonsynonymous SNV	exon13	c.G2384A	p.S795N	VRQDNAAGRAGSSSLTQVTDLAPSL	VRQDNAAGRAGSNSLTQVTDLAPSL	10.0	6.0	-	-	4196_12:116443759-116443759 C>T_VRQDNAAGRAGSNSLTQVTDLAPSL
17:58267946-58267946 C>T	1.0	4196	COLON	-	-	-	-	USP32	ENST00000592339,p.R877H|NM_032582,p.R1207H|uc002iyo.1,p.R1207H|uc002iyn.1,p.R877H|ENST00000300896,p.R1207H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002iyo.1	nonsynonymous SNV	exon29	c.G3620A	p.R1207H	IAVDWDPTALHLRYQTSQERVVDEH	IAVDWDPTALHLHYQTSQERVVDEH	9.0	6.0	unscreened	-	4196_17:58267946-58267946 C>T_IAVDWDPTALHLHYQTSQERVVDEH
20:62321161-62321161 T>C	1.0	4196	COLON	-	-	-	-	RTEL1	ENST00000360203,p.I695T|NM_032957,p.I719T|ENST00000482936,p.I695T|NM_016434,p.I695T|uc011abd.2,p.I719T|ENST00000508582,p.I719T|ENST00000425905,p.I88T|ENST00000492259,p.I723T|uc002yfu.2,p.I695T|NM_001283010,p.I472T|uc011abe.1,p.I472T|NM_001283009,p.I695T|ENST00000318100,p.I695T|ENST00000370018,p.I695T	protein_coding, processed_transcript, nonsense_mediated_decay	uc011abe.1	nonsynonymous SNV	exon23	c.T1415C	p.I472T	YRQQASRAVNQAIGRVIRHRQDYGA	YRQQASRAVNQATGRVIRHRQDYGA	9.0	7.0	-	-	4196_20:62321161-62321161 T>C_YRQQASRAVNQATGRVIRHRQDYGA
1:176759066-176759066 A>G	0.0	4196	COLON	-	-	-	-	PAPPA2	uc001gkz.3,p.S1613G|NM_020318,p.S1613G|ENST00000367662,p.S1613G	protein_coding, processed_transcript	uc001gkz.3	nonsynonymous SNV	exon18	c.A4837G	p.S1613G	VFEGMYECTNGFSLDSQCVLNCNQE	VFEGMYECTNGFGLDSQCVLNCNQE	4.0	4.0	-	-	4196_1:176759066-176759066 A>G_VFEGMYECTNGFGLDSQCVLNCNQE
8:139165408-139165408 G>T	0.0	4196	COLON	-	-	-	2	FAM135B	uc003yuy.3,p.T437K|NM_015912,p.T437K|uc003yux.3,p.T338K|ENST00000276737,p.T437K|ENST00000395297,p.T437K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yuy.3	nonsynonymous SNV	exon13	c.C1310A	p.T437K	VYPNFDVPVTSPTIMNLKDKEDNCM	VYPNFDVPVTSPKIMNLKDKEDNCM	3.0	10.0	-	-	4196_8:139165408-139165408 G>T_VYPNFDVPVTSPKIMNLKDKEDNCM
22:26897906-26897906 T>C	1.0	4196	COLON	-	-	-	-	TFIP11	ENST00000405938,p.K254R|ENST00000407148,p.K254R|NM_012143,p.K254R|uc003act.2,p.K254R|NM_001008697,p.K254R|ENST00000407690,p.K254R|uc003acs.2,p.K254R|ENST00000407431,p.K254R|uc003acr.2,p.K254R	retained_intron, protein_coding, processed_transcript	uc003act.2	nonsynonymous SNV	exon8	c.A761G	p.K254R	TVEELKAKGRISKKLTAPQKELSQV	TVEELKAKGRISRKLTAPQKELSQV	9.0	4.0	-	-	4196_22:26897906-26897906 T>C_TVEELKAKGRISRKLTAPQKELSQV
11:50003895-50003895 G>T	0.0	4196	COLON	-	-	-	-	OR4C12	NM_001005270,p.T48N|ENST00000335238,p.T48N|uc010ria.2,p.T48N	protein_coding	uc010ria.2	nonsynonymous SNV	exon1	c.C143A	p.T48N	TLSGNLLIVVTITTSQALSSPMYFF	TLSGNLLIVVTINTSQALSSPMYFF	3.0	9.0	-	-	4196_11:50003895-50003895 G>T_TLSGNLLIVVTINTSQALSSPMYFF
9:127616588-127616588 G>T	0.0	4196	COLON	-	-	-	-	WDR38	uc011lzp.3,p.G27V|NM_001276376,p.G27V	protein_coding	uc011lzp.3	nonsynonymous SNV	exon2	c.G80T	p.G27V	MAGRPGVGSCCGGWVATQMVLCPVS	MAGRPGVGSCCGVWVATQMVLCPVS	4.0	1.0	unscreened	-	4196_9:127616588-127616588 G>T_MAGRPGVGSCCGVWVATQMVLCPVS
10:7825128-7825128 T>G	1.0	4196	COLON	-	-	-	-	KIN	ENST00000535925,p.K42T|uc001ijt.3,p.K42T|NM_012311,p.K42T|ENST00000379562,p.K42T	protein_coding, processed_transcript	uc001ijt.3	nonsynonymous SNV	exon2	c.A125C	p.K42T	MCQKQCRDENGFKCHCMSESHQRQL	MCQKQCRDENGFTCHCMSESHQRQL	8.0	2.0	unscreened	-	4196_10:7825128-7825128 T>G_MCQKQCRDENGFTCHCMSESHQRQL
5:23522968-23522968 G>A	1.0	4196	COLON	-	-	-	-	PRDM9	ENST00000296682,p.A286T|NM_020227,p.A286T|uc003jgo.3,p.A286T	protein_coding	uc003jgo.3	nonsynonymous SNV	exon8	c.G856A	p.A286T	GPYEGRITEDEEAANNGYSWLITKG	GPYEGRITEDEETANNGYSWLITKG	5.0	7.0	-	-	4196_5:23522968-23522968 G>A_GPYEGRITEDEETANNGYSWLITKG
7:142562315-142562315 G>T	0.0	4196	COLON	-	-	-	-	EPHB6	uc011ksu.2,p.A253S|ENST00000392957,p.A253S|ENST00000442129,p.A253S|uc011kst.2,p.A253S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ksu.2	nonsynonymous SNV	exon7	c.G757T	p.A253S	SFPETQASGAGGASLVAAVGTCVAH	SFPETQASGAGGSSLVAAVGTCVAH	6.0	8.0	-	-	4196_7:142562315-142562315 G>T_SFPETQASGAGGSSLVAAVGTCVAH
1:158622439-158622439 G>A	0.0	4196	COLON	-	-	-	-	SPTA1	ENST00000368147,p.R1065C|NM_003126,p.R1065C|ENST00000368148,p.R1065C|uc001fst.1,p.R1065C	protein_coding, processed_transcript	uc001fst.1	nonsynonymous SNV	exon23	c.C3193T	p.R1065C	ITQRQEQIENQYRSLLDRAEERRRR	ITQRQEQIENQYCSLLDRAEERRRR	4.0	9.0	-	-	4196_1:158622439-158622439 G>A_ITQRQEQIENQYCSLLDRAEERRRR
4:72620224-72620224 C>T	0.0	4196	COLON	-	-	-	-	GC	ENST00000509740,p.A346T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000509740	nonsynonymous SNV	exon9	c.G1036A	p.A346T	VCDPGNTKVMDKALY	VCDPGNTKVMDKTLY	2.0	10.0	-	-	4196_4:72620224-72620224 C>T_VCDPGNTKVMDKTLY
11:32955527-32955527 G>A	1.0	4196	COLON	-	-	-	-	QSER1	uc001mua.3,p.G284D|NM_001076786,p.G779D|uc001mty.3,p.G779D|ENST00000399302,p.G779D|ENST00000527788,p.G540D|uc001mtz.1,p.G540D	retained_intron, protein_coding, processed_transcript	uc001mua.3	nonsynonymous SNV	exon1	c.G851A	p.G284D	FLQMEGHVIQSNGDHSQQQLHPQNS	FLQMEGHVIQSNDDHSQQQLHPQNS	9.0	10.0	-	-	4196_11:32955527-32955527 G>A_FLQMEGHVIQSNDDHSQQQLHPQNS
15:75557727-75557727 G>A	1.0	4196	COLON	-	-	-	-	GOLGA6C	uc002azs.2,p.A241T|ENST00000300576,p.A241T|NM_001164404,p.A241T	protein_coding	uc002azs.2	nonsynonymous SNV	exon9	c.G721A	p.A241T	RDEYAKHIKGERARWQERMWKMSVE	RDEYAKHIKGERTRWQERMWKMSVE	6.0	5.0	-	-	4196_15:75557727-75557727 G>A_RDEYAKHIKGERTRWQERMWKMSVE
7:98562388-98562388 A>C	1.0	4196	COLON	-	-	-	1	TRRAP	NM_003496,p.E2297D|uc003upp.3,p.E2315D|uc003upr.3,p.E2014D|ENST00000355540,p.E2297D|uc011kis.2,p.E2297D|ENST00000359863,p.E2315D|NM_001244580,p.E2315D	retained_intron, protein_coding	uc011kis.2	nonsynonymous SNV	exon46	c.A6891C	p.E2297D	EHLNPQAASGSTEATSGTSELVMLS	EHLNPQAASGSTDATSGTSELVMLS	8.0	3.0	-	-	4196_7:98562388-98562388 A>C_EHLNPQAASGSTDATSGTSELVMLS
12:52885352-52885352 A>C	0.0	4196	COLON	-	-	-	-	KRT6A	NM_005554,p.S237A|uc001sam.3,p.S237A|ENST00000330722,p.S237A	retained_intron, protein_coding	uc001sam.3	nonsynonymous SNV	exon2	c.T709G	p.S237A	LDSIVGERGRLDSELRGMQDLVEDF	LDSIVGERGRLDAELRGMQDLVEDF	8.0	5.0	-	-	4196_12:52885352-52885352 A>C_LDSIVGERGRLDAELRGMQDLVEDF
9:127616588-127616588 G>T	0.0	4196	COLON	-	-	-	-	WDR38	NM_001276375,p.R47S|uc011lzn.3,p.R47S|uc011lzo.3,p.R58S|NM_001045476,p.R58S|uc004box.4,p.R58S|ENST00000373574,p.R58S|NM_001276374,p.R58S	protein_coding	uc011lzo.3	nonsynonymous SNV	exon2	c.G174T	p.R58S	YGWETRSGQLLWRLGGHTGPVKFCR	YGWETRSGQLLWSLGGHTGPVKFCR	4.0	1.0	unscreened	-	4196_9:127616588-127616588 G>T_YGWETRSGQLLWSLGGHTGPVKFCR
4:72620224-72620224 C>T	0.0	4196	COLON	-	-	-	-	GC	uc010iif.3,p.G408D|NM_001204306,p.G389D|ENST00000273951,p.G389D|uc021xpb.1,p.G389D|ENST00000513476,p.G389D|uc003hge.3,p.G389D|ENST00000504199,p.G408D|NM_001204307,p.G408D|NM_000583,p.G389D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xpb.1	nonsynonymous SNV	exon11	c.G1166A	p.G389D	DVEDSTTCFNAKGPLLKKELSSFID	DVEDSTTCFNAKDPLLKKELSSFID	2.0	10.0	-	-	4196_4:72620224-72620224 C>T_DVEDSTTCFNAKDPLLKKELSSFID
8:17137894-17137894 T>C	1.0	4196	COLON	-	-	-	-	VPS37A	ENST00000521829,p.L279P|uc003wxk.3,p.L279P|ENST00000324849,p.L304P|uc003wxj.3,p.L304P|ENST00000521976,p.L77P|NM_152415,p.L304P|NM_001145152,p.L279P	protein_coding, processed_transcript, nonsense_mediated_decay	uc003wxk.3	nonsynonymous SNV	exon8	c.T836C	p.L279P	AKRQTVLDKYELLTQMKSTFEKKMQ	AKRQTVLDKYELPTQMKSTFEKKMQ	8.0	5.0	-	-	4196_8:17137894-17137894 T>C_AKRQTVLDKYELPTQMKSTFEKKMQ
X:108887364-108887365 GG>-	0.0	4196	COLON	-	-	-	-	ACSL4	ENST00000348502,p.P636fs|ENST00000469796,p.P677fs|NM_004458,p.P636fs|uc004eoi.2,p.P677fs|uc004eoj.2,p.P636fs|NM_022977,p.P677fs|ENST00000340800,p.P677fs|uc004eok.2,p.P636fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc004eok.2	frameshift deletion	exon16	c.1906_1907del	p.P636fs	FEIPIKVRLSPEPWTPETGLVTDAF	FEIPIKVRLSPEMDP	9.0	2.0	unscreened	-	4196_X:108887364-108887365 GG>-_FEIPIKVRLSPEMDP
1:17668464-17668464 G>A	0.0	4196	COLON	-	-	-	-	PADI4	uc001baj.2,p.V227I|uc009vpc.2,p.V227I|NM_012387,p.V227I|ENST00000375448,p.V227I	protein_coding, processed_transcript	uc009vpc.2	nonsynonymous SNV	exon7	c.G679A	p.V227I	QATRGKLSSKCSVVLGPKWPSHYLM	QATRGKLSSKCSIVLGPKWPSHYLM	5.0	6.0	-	-	4196_1:17668464-17668464 G>A_QATRGKLSSKCSIVLGPKWPSHYLM
6:37614117-37614117 G>A	0.0	4196	COLON	-	-	-	-	MDGA1	ENST00000505425,p.P694L|ENST00000297153,p.P697L|NM_153487,p.P694L|ENST00000434837,p.P694L|uc003onu.1,p.P694L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003onu.1	nonsynonymous SNV	exon11	c.C2081T	p.P694L	QLNQHNAVVKAIPVRRVEKGQLLEY	QLNQHNAVVKAILVRRVEKGQLLEY	5.0	6.0	-	-	4196_6:37614117-37614117 G>A_QLNQHNAVVKAILVRRVEKGQLLEY
18:56940363-56940363 C>T	0.0	4196	COLON	-	-	-	-	RAX	uc010dpp.3,p.G17S|ENST00000256852,p.G26S|ENST00000555288,p.G26S|ENST00000334889,p.G26S|NM_013435,p.G26S|uc002lhx.3,p.G26S	retained_intron, protein_coding	uc010dpp.3	nonsynonymous SNV	exon1	c.G49A	p.G17S	SFSLAGHLLRSPGGSTSRLHSIEAI	SFSLAGHLLRSPSGSTSRLHSIEAI	4.0	10.0	-	-	4196_18:56940363-56940363 C>T_SFSLAGHLLRSPSGSTSRLHSIEAI
6:35467907-35467907 C>T	1.0	4196	COLON	-	-	-	-	TULP1	NM_001289395,p.R396H|uc003okv.4,p.R449H|uc003okw.4,p.R396H|ENST00000322263,p.R396H|ENST00000229771,p.R449H|NM_003322,p.R449H	retained_intron, protein_coding	uc003okw.4	nonsynonymous SNV	exon13	c.G1187A	p.R396H	IRPRNASDGLLVRWQNKTLESLIEL	IRPRNASDGLLVHWQNKTLESLIEL	5.0	7.0	-	-	4196_6:35467907-35467907 C>T_IRPRNASDGLLVHWQNKTLESLIEL
2:228882338-228882338 G>T	0.0	4196	COLON	-	-	-	-	SPHKAP	ENST00000392056,p.L1078M|NM_001142644,p.L1078M|NM_030623,p.L1078M|uc010zlx.1,p.L1078M|ENST00000344657,p.L1078M|uc002vpp.2,p.L1078M|uc002vpq.2,p.L1078M	retained_intron, protein_coding	uc010zlx.1	nonsynonymous SNV	exon7	c.C3232A	p.L1078M	RNRLLSGDRWSRLKASSCESIPEED	RNRLLSGDRWSRMKASSCESIPEED	2.0	1.0	unscreened	-	4196_2:228882338-228882338 G>T_RNRLLSGDRWSRMKASSCESIPEED
5:21760750-21760750 A>C	0.0	4196	COLON	-	-	-	-	CDH12	NM_004061,p.L517R|ENST00000382254,p.L517R|uc011cno.1,p.L477R|ENST00000504376,p.L517R|uc003jgk.2,p.L517R|ENST00000522262,p.L477R|uc010iuc.2,p.L517R	retained_intron, protein_coding, processed_transcript	uc011cno.1	nonsynonymous SNV	exon10	c.T1430G	p.L477R	QIIQIVSAADRDLSPAGQQFSFRLS	QIIQIVSAADRDRSPAGQQFSFRLS	3.0	4.0	-	-	4196_5:21760750-21760750 A>C_QIIQIVSAADRDRSPAGQQFSFRLS
14:92091188-92091188 A>T	0.0	4196	COLON	-	-	-	-	CATSPERB	uc001xzs.1,p.Y636N|NM_024764,p.Y636N|ENST00000256343,p.Y636N|uc010aub.1,p.Y158N	retained_intron, protein_coding, nonsense_mediated_decay	uc010aub.1	nonsynonymous SNV	exon4	c.T472A	p.Y158N	SSSLLINKAGNVYKLTLDSQVVQAL	SSSLLINKAGNVNKLTLDSQVVQAL	6.0	4.0	-	-	4196_14:92091188-92091188 A>T_SSSLLINKAGNVNKLTLDSQVVQAL
7:99661861-99661861 T>G	1.0	4196	COLON	-	-	-	-	ZSCAN21	uc003uso.3,p.L348R|NM_145914,p.L348R|ENST00000292450,p.L348R	protein_coding, processed_transcript	uc003uso.3	nonsynonymous SNV	exon4	c.T1043G	p.L348R	KCGKAFGQSSDLLKHQRMHTEEAPY	KCGKAFGQSSDLRKHQRMHTEEAPY	6.0	1.0	unscreened	-	4196_7:99661861-99661861 T>G_KCGKAFGQSSDLRKHQRMHTEEAPY
10:123843688-123843688 A>G	1.0	4196	COLON	-	-	-	-	TACC2	ENST00000369005,p.D558G|NM_001291877,p.D558G|ENST00000334433,p.D558G|NM_206862,p.D558G|ENST00000515273,p.D558G|uc001lfv.3,p.D558G|uc010qtv.2,p.D558G|ENST00000453444,p.D558G|ENST00000515603,p.D558G|NM_001291876,p.D558G|uc009xzx.3,p.D558G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qtv.2	nonsynonymous SNV	exon4	c.A1673G	p.D558G	PPGPTDGAKVHEDSTSPAVAKEGSR	PPGPTDGAKVHEGSTSPAVAKEGSR	9.0	6.0	-	-	4196_10:123843688-123843688 A>G_PPGPTDGAKVHEGSTSPAVAKEGSR
20:49221288-49221288 A>G	0.0	4196	COLON	-	-	-	-	FAM65C	uc010zyt.2,p.L327P|NM_080829,p.L323P|uc002xvm.3,p.L323P|NM_001290268,p.L327P|ENST00000045083,p.L323P|ENST00000535356,p.L327P|ENST00000327979,p.L323P|uc002xvn.1,p.L323P	retained_intron, protein_coding, processed_transcript	uc010zyt.2	nonsynonymous SNV	exon12	c.T980C	p.L327P	EVQWNPFDTESFLVSPSPTGKFSMG	EVQWNPFDTESFPVSPSPTGKFSMG	4.0	1.0	unscreened	-	4196_20:49221288-49221288 A>G_EVQWNPFDTESFPVSPSPTGKFSMG
9:99580227-99580227 T>G	0.0	4196	COLON	-	-	-	-	ZNF782	uc004awp.1,p.Q693P|uc011lup.1,p.Q561P|NM_001001662,p.Q693P|ENST00000535338,p.Q561P|ENST00000481138,p.Q693P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lup.1	nonsynonymous SNV	exon3	c.A1682C	p.Q561P	RTFSQKSSLREHQKAHPGD	RTFSQKSSLREHPKAHPGD	7.0	1.0	unscreened	-	4196_9:99580227-99580227 T>G_RTFSQKSSLREHPKAHPGD
8:99441331-99441331 T>A	0.0	4196	COLON	-	-	-	-	KCNS2	NM_020697,p.V375E|ENST00000287042,p.V375E|uc022azb.1,p.V375E|uc003yin.3,p.V375E|ENST00000521839,p.V375E	protein_coding	uc022azb.1	nonsynonymous SNV	exon1	c.T1124A	p.V375E	ACWWWATVSMTTVGYGDVVPGTTAG	ACWWWATVSMTTEGYGDVVPGTTAG	3.0	7.0	-	-	4196_8:99441331-99441331 T>A_ACWWWATVSMTTEGYGDVVPGTTAG
X:130218309-130218309 A>C	0.0	4196	COLON	-	-	-	-	ARHGAP36	ENST00000423277,p.M178L|NM_001282607,p.M214L|ENST00000370921,p.M90L|uc004ewb.3,p.M195L|uc004ewa.3,p.M214L|ENST00000412432,p.M195L|NM_144967,p.M226L|ENST00000276211,p.M226L|uc004ewc.3,p.M90L|ENST00000370922,p.M214L|uc004evz.3,p.M226L	protein_coding	uc004ewc.3	nonsynonymous SNV	exon2	c.A268C	p.M90L	PIGQRLLGSKRKMSLNPIAKQIPQV	PIGQRLLGSKRKLSLNPIAKQIPQV	5.0	2.0	unscreened	-	4196_X:130218309-130218309 A>C_PIGQRLLGSKRKLSLNPIAKQIPQV
8:100975135-100975137 TTC>-	0.0	4196	COLON	-	-	-	-	RGS22	ENST00000517843,p.101_101del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000517843	nonframeshift deletion	exon3	c.301_303del	p.101_101del	LEQERILLKIQEELEKKLFAGIL	LEQERILLKIQELEKKLFAGIL	5.0	4.0	unscreened	-	4196_8:100975135-100975137 TTC>-_LEQERILLKIQELEKKLFAGIL
18:61390382-61390382 T>G	0.0	4196	COLON	-	-	-	-	SERPINB11	ENST00000538847,p.F108V|ENST00000536691,p.F135V|NM_001291279,p.F135V|uc010dqe.3,p.F109V|uc010xes.2,p.F135V|uc010dqf.3,p.F108V|uc002ljj.4,p.F196V	protein_coding, processed_transcript, polymorphic_pseudogene	uc010xes.2	nonsynonymous SNV	exon7	c.T403G	p.F135V	NSLLKSLGVTDLFNQVKADLSGMSP	NSLLKSLGVTDLVNQVKADLSGMSP	3.0	4.0	unscreened	-	4196_18:61390382-61390382 T>G_NSLLKSLGVTDLVNQVKADLSGMSP
9:17340859-17340859 A>G	0.0	4196	COLON	-	-	-	-	CNTLN	uc010mio.3,p.E239G|uc003zmz.2,p.E560G|ENST00000380647,p.E560G|NM_017738,p.E560G|uc003zmy.3,p.E560G|ENST00000425824,p.E560G|ENST00000262360,p.E560G	protein_coding, processed_transcript	uc010mio.3	nonsynonymous SNV	exon7	c.A716G	p.E239G	KSQENDELRDAHEKRKERLQMLQTN	KSQENDELRDAHGKRKERLQMLQTN	6.0	1.0	unscreened	-	4196_9:17340859-17340859 A>G_KSQENDELRDAHGKRKERLQMLQTN
1:216420343-216420343 T>A	0.0	4196	COLON	-	-	-	-	USH2A	ENST00000366942,p.D798V|NM_007123,p.D798V|ENST00000366943,p.D798V|NM_206933,p.D798V|ENST00000307340,p.D798V|uc001hkv.3,p.D798V|uc001hku.1,p.D798V	retained_intron, protein_coding	uc001hkv.3	nonsynonymous SNV	exon13	c.A2393T	p.D798V	GLDVTNCKACDCDTAGSLPGTVCNA	GLDVTNCKACDCVTAGSLPGTVCNA	3.0	3.0	-	-	4196_1:216420343-216420343 T>A_GLDVTNCKACDCVTAGSLPGTVCNA
2:166245865-166245865 A>G	0.0	4196	COLON	-	-	-	-	SCN2A	uc021vry.1,p.D350G|ENST00000375427,p.D1850G|NM_001040142,p.D1850G|ENST00000375437,p.D1850G|NM_001040143,p.D1850G|uc002udd.3,p.D1850G|uc002ude.3,p.D1850G|ENST00000283256,p.D1850G|ENST00000357398,p.D1850G|uc002udc.3,p.D1850G|NM_021007,p.D1850G	retained_intron, protein_coding	uc021vry.1	nonsynonymous SNV	exon3	c.A1049G	p.D350G	QLIAMDLPMVSGDRIHCLDILFAFT	QLIAMDLPMVSGGRIHCLDILFAFT	5.0	2.0	unscreened	-	4196_2:166245865-166245865 A>G_QLIAMDLPMVSGGRIHCLDILFAFT
12:10275939-10275939 A>C	0.0	4196	COLON	-	-	-	-	CLEC7A	ENST00000349926,p.F43V	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000349926	nonsynonymous SNV	exon2	c.T127G	p.F43V	VSEKGIYSKTSVFPT	VSEKGIYSKTSVVPT	8.0	4.0	-	-	4196_12:10275939-10275939 A>C_VSEKGIYSKTSVVPT
12:118198975-118198975 G>A	0.0	4196	COLON	-	-	-	-	KSR2	NM_173598,p.T247M|ENST00000425217,p.T247M|uc001two.2,p.T247M|ENST00000339824,p.T276M	retained_intron, protein_coding, processed_transcript	uc001two.2	nonsynonymous SNV	exon4	c.C740T	p.T247M	TPNIVTTVTPPGTPPMRKKNKLKPP	TPNIVTTVTPPGMPPMRKKNKLKPP	5.0	7.0	-	-	4196_12:118198975-118198975 G>A_TPNIVTTVTPPGMPPMRKKNKLKPP
20:61430984-61430984 C>A	1.0	4196	COLON	-	-	-	-	MRGBP	ENST00000370487,p.R202S|NM_018270,p.R202S|uc002ydi.3,p.R202S	protein_coding	uc002ydi.3	nonsynonymous SNV	exon5	c.C604A	p.R202S	NSNPSSPSAAKRRRT	NSNPSSPSAAKRSRT	7.0	9.0	-	-	4196_20:61430984-61430984 C>A_NSNPSSPSAAKRSRT
7:91643587-91643587 T>C	1.0	4196	COLON	-	-	-	2	AKAP9	ENST00000359028,p.L1198P|uc003uli.3,p.L811P|uc003ulg.3,p.L1186P|NM_005751,p.L1186P|ENST00000358100,p.L1198P|uc003ulf.3,p.L1186P|NM_147185,p.L1186P|ENST00000356239,p.L1186P|uc003ule.2,p.L1198P	retained_intron, protein_coding, processed_transcript	uc003uli.3	nonsynonymous SNV	exon3	c.T2432C	p.L811P	TQETGDEGKPLHLLIGKLQKAVSEE	TQETGDEGKPLHPLIGKLQKAVSEE	9.0	8.0	-	-	4196_7:91643587-91643587 T>C_TQETGDEGKPLHPLIGKLQKAVSEE
2:149240681-149240681 G>A	1.0	4196	COLON	-	-	-	-	MBD5	uc002twm.4,p.G841S|ENST00000407073,p.G841S|NM_018328,p.G841S|ENST00000404807,p.G841S	retained_intron, protein_coding, processed_transcript	uc002twm.4	nonsynonymous SNV	exon10	c.G2521A	p.G841S	VSSYNQTSSEAGGSGPSSSIAIAGT	VSSYNQTSSEAGSSGPSSSIAIAGT	8.0	7.0	-	-	4196_2:149240681-149240681 G>A_VSSYNQTSSEAGSSGPSSSIAIAGT
7:98562388-98562388 A>C	1.0	4196	COLON	-	-	-	1	TRRAP	ENST00000446306,p.E2296D	retained_intron, protein_coding	ENST00000446306	nonsynonymous SNV	exon45	c.A6888C	p.E2296D	EHLNPQAASGSTEATSAGTSELVML	EHLNPQAASGSTDATSAGTSELVML	8.0	3.0	-	-	4196_7:98562388-98562388 A>C_EHLNPQAASGSTDATSAGTSELVML
18:5891791-5891791 G>T	0.0	4196	COLON	-	-	-	-	TMEM200C	NM_001080209,p.P91H|ENST00000581347,p.P91H|ENST00000383490,p.P91H|uc002kmx.1,p.P91H	protein_coding	uc002kmx.1	nonsynonymous SNV	exon1	c.C272A	p.P91H	TGTNREGGKQLPPAGSSHRVPTTAN	TGTNREGGKQLPHAGSSHRVPTTAN	3.0	5.0	-	-	4196_18:5891791-5891791 G>T_TGTNREGGKQLPHAGSSHRVPTTAN
7:86415865-86415865 C>T	1.0	4196	COLON	-	-	-	2	GRM3	ENST00000394720,p.R251C|uc010lef.3,p.R251C|ENST00000439827,p.R253C|uc003uid.3,p.R253C|NM_000840,p.R253C|ENST00000454217,p.R125C|ENST00000361669,p.R253C|uc010leg.3,p.R125C|ENST00000536043,p.R125C	protein_coding	uc010leg.3	nonsynonymous SNV	exon2	c.C373T	p.R125C	IATAEKVGRSNIRKSYDSVIRELLQ	IATAEKVGRSNICKSYDSVIRELLQ	4.0	6.0	-	-	4196_7:86415865-86415865 C>T_IATAEKVGRSNICKSYDSVIRELLQ
2:212587251-212587251 C>A	0.0	4196	COLON	-	-	ID=COSM1015996;OCCURENCE=1(endometrium)	1	ERBB4	ENST00000402597,p.M250I|NM_001042599,p.M250I|uc002veg.1,p.M250I|NM_005235,p.M250I|ENST00000436443,p.M250I|ENST00000342788,p.M250I|uc002veh.1,p.M250I|uc010fut.1,p.M250I|uc010zjj.1,p.M250I|uc010zji.1,p.M250I	retained_intron, protein_coding, processed_transcript	uc010zjj.1	nonsynonymous SNV	exon7	c.G750T	p.M250I	CSGPKDTDCFACMNFNDSGACVTQC	CSGPKDTDCFACINFNDSGACVTQC	5.0	6.0	-	-	4196_2:212587251-212587251 C>A_CSGPKDTDCFACINFNDSGACVTQC
7:107423453-107423453 A>C	1.0	4196	COLON	-	-	-	-	SLC26A3	uc003ves.2,p.V367G|ENST00000340010,p.V402G|ENST00000422236,p.V367G|uc003ver.2,p.V402G|NM_000111,p.V402G	retained_intron, protein_coding, nonsense_mediated_decay	uc003ves.2	nonsynonymous SNV	exon10	c.T1100G	p.V367G	GFAGSTALSRSAVQESTGGKTQIAG	GFAGSTALSRSAGQESTGGKTQIAG	10.0	3.0	-	-	4196_7:107423453-107423453 A>C_GFAGSTALSRSAGQESTGGKTQIAG
X:68725468-68725468 G>A	0.0	4196	COLON	-	-	-	-	FAM155B	uc004dxk.3,p.G115S|ENST00000252338,p.G115S|NM_015686,p.G115S	protein_coding	uc004dxk.3	nonsynonymous SNV	exon1	c.G343A	p.G115S	PPGEPSAPPGTCGPRYSNLTKAAPA	PPGEPSAPPGTCSPRYSNLTKAAPA	5.0	7.0	-	-	4196_X:68725468-68725468 G>A_PPGEPSAPPGTCSPRYSNLTKAAPA
X:45011230-45011230 T>G	0.0	4196	COLON	-	-	-	-	CXorf36	uc004dgg.2,p.Q323H|NM_176819,p.Q323H|ENST00000398000,p.Q323H	protein_coding, processed_transcript	uc004dgg.2	nonsynonymous SNV	exon5	c.A969C	p.Q323H	SAVGVIDKQEGSQEANRAGENKDIF	SAVGVIDKQEGSHEANRAGENKDIF	5.0	2.0	unscreened	-	4196_X:45011230-45011230 T>G_SAVGVIDKQEGSHEANRAGENKDIF
1:243328281-243328281 C>A	1.0	4196	COLON	-	-	-	-	CEP170	NM_001042405,p.S896I|uc001hzv.1,p.S372I|ENST00000366544,p.S896I|uc021plq.1,p.S896I|ENST00000366543,p.S896I|NM_001042404,p.S896I|uc021plo.1,p.S994I|ENST00000366542,p.S994I|NM_014812,p.S994I|uc021plp.1,p.S896I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021plq.1	nonsynonymous SNV	exon12	c.G2687T	p.S896I	SGAREKMEKKTKSRSTDVGSRADGR	SGAREKMEKKTKIRSTDVGSRADGR	9.0	7.0	-	-	4196_1:243328281-243328281 C>A_SGAREKMEKKTKIRSTDVGSRADGR
8:12042858-12042858 T>C	1.0	4196	COLON	-	rs71189354	-	-	FAM86B1	uc003wvi.4,p.T79A|uc011kxq.2,p.T79A|ENST00000321602,p.T79A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kxq.2	nonsynonymous SNV	exon3	c.A235G	p.T79A	TELGEPPRPPGPTWCPSCPCRTPVE	TELGEPPRPPGPAWCPSCPCRTPVE	7.0	6.0	unscreened	-	4196_8:12042858-12042858 T>C_TELGEPPRPPGPAWCPSCPCRTPVE
5:70805549-70805549 C>G	1.0	4196	COLON	-	-	-	-	BDP1	ENST00000358731,p.T877S|uc003kbp.1,p.T877S|uc003kbo.3,p.T877S|uc003kbn.1,p.T877S|NM_018429,p.T877S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003kbp.1	nonsynonymous SNV	exon17	c.C2630G	p.T877S	INTKEMQSDLKETGRRAISPREKIL	INTKEMQSDLKESGRRAISPREKIL	9.0	7.0	-	-	4196_5:70805549-70805549 C>G_INTKEMQSDLKESGRRAISPREKIL
5:112175193-112175193 C>-	1.0	4196	COLON	-	-	ID=COSM300845;OCCURENCE=1(large_intestine)	1	APC	ENST00000257430,p.T1301fs|NM_001127511,p.T1283fs|NM_001127510,p.T1301fs|NM_000038,p.T1301fs|uc011cvt.2,p.T1283fs|ENST00000512211,p.T1301fs|ENST00000508376,p.T1301fs|uc010jbz.3,p.T1018fs|ENST00000457016,p.T1301fs|uc003kpz.4,p.T1301fs|uc003kpy.4,p.T1301fs|uc010jca.3,p.T601fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cvt.2	frameshift deletion	exon14	c.3848delC	p.T1283fs	CNQTTQEADSANTLQIAEIKEKIGT	CNQTTQEADSANTCK	9.0	8.0	-	-	4196_5:112175193-112175193 C>-_CNQTTQEADSANTCK
1:220310245-220310245 G>A	1.0	4196	COLON	-	-	-	-	IARS2	uc001hmc.3,p.G681R|ENST00000366922,p.G609R|ENST00000302637,p.G681R|NM_018060,p.G681R	protein_coding, processed_transcript	uc001hmc.3	nonsynonymous SNV	exon16	c.G2041A	p.G681R	LGNVIHPDVVVNGGQDQSKEPPYGA	LGNVIHPDVVVNRGQDQSKEPPYGA	9.0	4.0	-	-	4196_1:220310245-220310245 G>A_LGNVIHPDVVVNRGQDQSKEPPYGA
6:161969926-161969926 C>T	0.0	4196	COLON	-	-	-	-	PARK2	uc021zhw.1,p.R157K|uc010kkd.3,p.R157K|uc003qtw.4,p.R157K|NM_004562,p.R348K|ENST00000338468,p.R157K|uc003qtx.4,p.R348K|ENST00000366892,p.R348K|NM_013987,p.R320K|ENST00000366898,p.R348K|uc010kke.1,p.R367K|NM_013988,p.R199K|ENST00000366896,p.R199K|uc021zhu.1,p.R395K|uc011egf.2,p.R22K|uc003qtz.4,p.R199K|ENST00000366894,p.R157K|uc031sqz.1,p.R413K|uc021zhv.1,p.R269K|ENST00000366897,p.R320K|uc003qty.4,p.R320K	protein_coding, nonsense_mediated_decay	uc031sqz.1	nonsynonymous SNV	exon11	c.G1238A	p.R413K	GCGAGLLPEPDQRKVTCEGGNGLGC	GCGAGLLPEPDQKKVTCEGGNGLGC	6.0	5.0	-	-	4196_6:161969926-161969926 C>T_GCGAGLLPEPDQKKVTCEGGNGLGC
19:22256320-22256320 A>T	0.0	4196	COLON	-	-	-	-	ZNF257	uc010ecx.3,p.K60N|uc010ecy.3,p.K28N|ENST00000600162,p.K60N|ENST00000594947,p.K60N|NM_033468,p.K60N|ENST00000594363,p.K60N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ecy.3	nonsynonymous SNV	exon4	c.A84T	p.K28N	SKPDLITCLEQGKEPCNMKRHEMVA	SKPDLITCLEQGNEPCNMKRHEMVA	7.0	5.0	-	-	4196_19:22256320-22256320 A>T_SKPDLITCLEQGNEPCNMKRHEMVA
X:129546340-129546340 A>C	0.0	4196	COLON	-	-	-	-	RBMX2	ENST00000305536,p.K163Q|uc004evt.3,p.K163Q|NM_016024,p.K163Q	protein_coding, processed_transcript	uc004evt.3	nonsynonymous SNV	exon6	c.A487C	p.K163Q	DEKPTKKHKKDKKEKKKKKKEKEKA	DEKPTKKHKKDKQEKKKKKKEKEKA	8.0	8.0	-	-	4196_X:129546340-129546340 A>C_DEKPTKKHKKDKQEKKKKKKEKEKA
15:24921084-24921084 G>A	0.0	4196	COLON	-	-	-	-	NPAP1	ENST00000329468,p.A24T|NM_018958,p.A24T|uc001ywo.3,p.A24T	protein_coding	uc001ywo.3	nonsynonymous SNV	exon1	c.G70A	p.A24T	CRRRPLPGPGRGAPAPLSRDASPPG	CRRRPLPGPGRGTPAPLSRDASPPG	3.0	8.0	-	-	4196_15:24921084-24921084 G>A_CRRRPLPGPGRGTPAPLSRDASPPG
4:36166612-36166612 G>T	1.0	4196	COLON	-	-	-	-	ARAP2	uc003gsq.2,p.S699R|NM_015230,p.S699R|ENST00000303965,p.S699R|uc003gsr.1,p.S699R	retained_intron, protein_coding, processed_transcript	uc003gsr.1	nonsynonymous SNV	exon11	c.C2097A	p.S699R	VAEKIWFNESNRSCADCKAPDPDWA	VAEKIWFNESNRRCADCKAPDPDWA	8.0	5.0	-	-	4196_4:36166612-36166612 G>T_VAEKIWFNESNRRCADCKAPDPDWA
21:46020525-46020525 G>T	0.0	4196	COLON	-	-	-	-	KRTAP10-7	uc002zfn.4,p.A2S|ENST00000380102,p.A2S|NM_198689,p.A2S	protein_coding	uc002zfn.4	nonsynonymous SNV	exon1	c.G4T	p.A2S	MAASTMSVCSSDLS	MSASTMSVCSSDLS	3.0	5.0	-	-	4196_21:46020525-46020525 G>T_MSASTMSVCSSDLS
17:39324124-39324124 G>A	0.0	4196	COLON	-	-	-	-	KRTAP4-3	NM_033187,p.R101C|ENST00000391356,p.R101C|uc010cxl.3,p.R101C	protein_coding	uc010cxl.3	nonsynonymous SNV	exon1	c.C301T	p.R101C	CCKPSCCRTTCCRPSCCISSCCRPS	CCKPSCCRTTCCCPSCCISSCCRPS	2.0	5.0	-	-	4196_17:39324124-39324124 G>A_CCKPSCCRTTCCCPSCCISSCCRPS
5:45262469-45262469 G>T	0.0	4196	COLON	-	-	-	-	HCN1	ENST00000303230,p.P743T|NM_021072,p.P743T|uc003jok.3,p.P743T	protein_coding	uc003jok.3	nonsynonymous SNV	exon8	c.C2227A	p.P743T	QQQPQQQVQQSQPPQTQPQQPSPQP	QQQPQQQVQQSQTPQTQPQQPSPQP	6.0	5.0	-	-	4196_5:45262469-45262469 G>T_QQQPQQQVQQSQTPQTQPQQPSPQP
20:33875094-33875096 CTC>-	0.0	4196	COLON	-	-	-	-	FAM83C	uc021wck.1,p.496_496del|ENST00000374408,p.496_496del|NM_178468,p.496_496del|uc002xcb.1,p.151_151del	protein_coding	uc021wck.1	nonframeshift deletion	exon4	c.1486_1488del	p.496_496del	VPGTTLETVEEKEKKASPSQSRGQL	VPGTTLETVEEKKKASPSQSRGQLD	3.0	5.0	-	-	4196_20:33875094-33875096 CTC>-_VPGTTLETVEEKKKASPSQSRGQLD
12:133160360-133160360 G>A	0.0	4196	COLON	-	-	-	-	FBRSL1	NM_001142641,p.R1045Q|ENST00000261673,p.R972Q|ENST00000434748,p.R1045Q|uc001ukf.3,p.R1045Q	retained_intron, protein_coding, processed_transcript	uc001ukf.3	nonsynonymous SNV	exon17	c.G3134A	p.R1045Q	YSPSRNPPEVEAR	YSPSRNPPEVEAQ	9.0	5.0	-	-	4196_12:133160360-133160360 G>A_YSPSRNPPEVEAQ
12:11461454-11461454 G>T	0.0	4196	COLON	-	-	-	-	PRB4	NM_002723,p.P155T|ENST00000279575,p.P155T|uc001qzf.2,p.P155T|uc001qzt.4,p.P155T|ENST00000535904,p.P155T	protein_coding	uc001qzt.4	nonsynonymous SNV	exon3	c.C463A	p.P155T	RPPPQGGNQSQGPPPHPGKPEGPPP	RPPPQGGNQSQGTPPHPGKPEGPPP	5.0	5.0	unscreened	-	4196_12:11461454-11461454 G>T_RPPPQGGNQSQGTPPHPGKPEGPPP
2:15757435-15757435 C>T	1.0	4213	COLON	-	-	-	-	DDX1	uc010yjq.2,p.S270F|uc021vee.2,p.S281F|ENST00000381341,p.S362F|uc002rce.4,p.S362F|NM_004939,p.S362F|ENST00000233084,p.S362F	retained_intron, protein_coding	uc021vee.2	nonsynonymous SNV	exon11	c.C842T	p.S281F	LDDLVSTGKLNLSQVRFLVLDEADG	LDDLVSTGKLNLFQVRFLVLDEADG	10.0	7.0	CD8	-	4213_2:15757435-15757435 C>T_LDDLVSTGKLNLFQVRFLVLDEADG
22:19220085-19220085 C>G	1.0	4213	COLON	-	-	-	1	CLTCL1	NM_001835,p.G520R|uc021wlc.1,p.G520R|NM_007098,p.G520R|ENST00000505027,p.G520R|ENST00000353891,p.G520R|ENST00000263200,p.G520R|uc011agw.1,p.G520R|uc021wle.1,p.G520R|uc021wlf.1,p.G520R|uc021wld.1,p.G520R|ENST00000427926,p.G520R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wlf.1	nonsynonymous SNV	exon10	c.G1558C	p.G520R	VGYTPDWIFLLRGVMKISPEQGLQF	VGYTPDWIFLLRRVMKISPEQGLQF	6.0	10.0	-	-	4213_22:19220085-19220085 C>G_VGYTPDWIFLLRRVMKISPEQGLQF
19:52381759-52381759 A>C	1.0	4213	COLON	-	-	-	-	ZNF577	ENST00000420592,p.S24A|ENST00000419138,p.S24A|uc010ydd.2,p.S17A|ENST00000592321,p.S24A|NM_032679,p.S24A|ENST00000412216,p.S24A|uc010yde.2,p.S24A|ENST00000453272,p.S24A|ENST00000446514,p.S24A|ENST00000451628,p.S24A|uc002pxx.4,p.S24A|ENST00000458390,p.S24A|ENST00000301399,p.S24A|NM_001135590,p.S24A|uc002pxw.3,p.S17A|uc002pxv.3,p.S17A	retained_intron, protein_coding, processed_transcript	uc010yde.2	nonsynonymous SNV	exon5	c.T70G	p.S24A	REQGSSSGEGSLSFEDVAVGFTREE	REQGSSSGEGSLAFEDVAVGFTREE	9.0	5.0	-	-	4213_19:52381759-52381759 A>C_REQGSSSGEGSLAFEDVAVGFTREE
7:1784468-1784468 C>T	1.0	4213	COLON	-	-	-	-	ELFN1	NM_001128636,p.S79L|ENST00000424383,p.S79L|uc031swk.1,p.S79L|uc010ksg.2,p.S79L|ENST00000561626,p.S79L|ENST00000541472,p.S79L	protein_coding	uc031swk.1	nonsynonymous SNV	exon1	c.C236T	p.S79L	LNENRIRSVQYASLSRFGNLTYLNL	LNENRIRSVQYALLSRFGNLTYLNL	5.0	9.0	-	-	4213_7:1784468-1784468 C>T_LNENRIRSVQYALLSRFGNLTYLNL
1:162749916-162749916 A>C	1.0	4213	COLON	-	-	-	1	DDR2	NM_006182,p.Q816H|NM_001014796,p.Q816H|uc001gcg.3,p.Q816H|ENST00000367921,p.Q816H|uc001gcf.3,p.Q816H|ENST00000367922,p.Q816H	protein_coding	uc001gcg.3	nonsynonymous SNV	exon18	c.A2448C	p.Q816H	FFRDQGRQTYLPQPAICPDSVYKLM	FFRDQGRQTYLPHPAICPDSVYKLM	7.0	7.0	-	-	4213_1:162749916-162749916 A>C_FFRDQGRQTYLPHPAICPDSVYKLM
13:42301354-42301354 C>G	1.0	4213	COLON	-	-	-	-	VWA8	NM_001009814,p.G912R|uc001uyj.3,p.G912R|ENST00000379310,p.G912R|uc001uyk.3,p.G912R|NM_015058,p.G912R|ENST00000281496,p.G912R	protein_coding, processed_transcript	uc001uyk.3	nonsynonymous SNV	exon24	c.G2734C	p.G912R	IVLANRPGFPFLGNDFFGTLGDIFS	IVLANRPGFPFLRNDFFGTLGDIFS	7.0	1.0	unscreened	-	4213_13:42301354-42301354 C>G_IVLANRPGFPFLRNDFFGTLGDIFS
3:39185177-39185177 G>A	1.0	4213	COLON	-	-	-	-	CSRNP1	ENST00000273153,p.P380L|NM_033027,p.P380L|uc003cjh.3,p.P380L|uc003cjg.3,p.P380L|ENST00000514182,p.P380L	protein_coding	uc003cjh.3	nonsynonymous SNV	exon5	c.C1139T	p.P380L	APDCPTHPGLPGPGFQPGVDDDSLA	APDCPTHPGLPGLGFQPGVDDDSLA	7.0	4.0	-	-	4213_3:39185177-39185177 G>A_APDCPTHPGLPGLGFQPGVDDDSLA
11:58919575-58919575 G>T	1.0	4213	COLON	-	-	-	-	FAM111A	uc010rkp.2,p.S145I|ENST00000420244,p.S145I|ENST00000533703,p.S145I|uc001nnq.3,p.S145I|NM_001142521,p.S145I|NM_001142519,p.S145I|NM_198847,p.S145I|uc010rkr.2,p.S145I|ENST00000531147,p.S145I|ENST00000527629,p.S145I|ENST00000361723,p.S145I|uc010rkq.2,p.S145I|ENST00000528737,p.S145I|uc001nno.3,p.S145I|uc001nnp.3,p.S145I|NM_022074,p.S145I|NM_001142520,p.S145I	retained_intron, protein_coding, processed_transcript	uc010rkr.2	nonsynonymous SNV	exon5	c.G434T	p.S145I	GIKEYINLGMPLSCFPEGGQVVITF	GIKEYINLGMPLICFPEGGQVVITF	10.0	2.0	unscreened	-	4213_11:58919575-58919575 G>T_GIKEYINLGMPLICFPEGGQVVITF
6:138734106-138734106 A>G	1.0	4213	COLON	-	-	-	-	HEBP2	uc003qhw.1,p.D170G|NM_014320,p.D170G|ENST00000607197,p.D170G	protein_coding, nonsense_mediated_decay	uc003qhw.1	nonsynonymous SNV	exon4	c.A509G	p.D170G	LASILREDGKVFDEKVYYTAGYNSP	LASILREDGKVFGEKVYYTAGYNSP	10.0	6.0	-	-	4213_6:138734106-138734106 A>G_LASILREDGKVFGEKVYYTAGYNSP
8:141595389-141595389 G>A	1.0	4213	COLON	-	-	-	-	AGO2	ENST00000220592,p.P15L|NM_001164623,p.P15L|NM_012154,p.P15L|uc003yvn.3,p.P15L|ENST00000519980,p.P15L|uc010meo.3,p.P15L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010meo.3	nonsynonymous SNV	exon2	c.C44T	p.P15L	SGAGPALAPPAPPPPIQGYAFKPPP	SGAGPALAPPAPLPPIQGYAFKPPP	8.0	10.0	-	-	4213_8:141595389-141595389 G>A_SGAGPALAPPAPLPPIQGYAFKPPP
9:79118217-79118217 A>G	1.0	4213	COLON	-	-	-	-	GCNT1	uc010mph.3,p.K307R|ENST00000442371,p.K307R|uc004akh.4,p.K307R|NM_001490,p.K307R|uc004akf.4,p.K307R|uc022bif.1,p.K307R|uc010mpg.3,p.K307R|uc010mpf.3,p.K307R|ENST00000536223,p.K307R|uc010mpi.3,p.K307R|NM_001097635,p.K307R|ENST00000444201,p.K307R|ENST00000376730,p.K307R|NM_001097636,p.K307R|NM_001097633,p.K307R|NM_001097634,p.K307R	protein_coding, processed_transcript	uc022bif.1	nonsynonymous SNV	exon1	c.A920G	p.K307R	YVGYVLQNEKIQKLMEWAQDTYSPD	YVGYVLQNEKIQRLMEWAQDTYSPD	9.0	1.0	unscreened	-	4213_9:79118217-79118217 A>G_YVGYVLQNEKIQRLMEWAQDTYSPD
7:94855338-94855338 G>A	1.0	4213	COLON	-	-	ID=COSM1698935,COSM1698934;OCCURENCE=1(skin)	-	PPP1R9A	ENST00000289495,p.M652I|uc011kif.2,p.M652I|NM_017650,p.M652I|ENST00000433881,p.M652I|uc003unq.3,p.M652I|NM_001166160,p.M674I|ENST00000456331,p.M652I|NM_001166162,p.M652I|uc010lfj.3,p.M674I|NM_001166163,p.M652I|ENST00000340694,p.M652I|NM_001166161,p.M652I|uc003unp.3,p.M652I|uc011kig.2,p.M652I|ENST00000424654,p.M652I|ENST00000433360,p.M674I	protein_coding	uc011kig.2	nonsynonymous SNV	exon6	c.G1956A	p.M652I	EDEVGPVLPGSDMAIEVFELPENED	EDEVGPVLPGSDIAIEVFELPENED	7.0	9.0	-	-	4213_7:94855338-94855338 G>A_EDEVGPVLPGSDIAIEVFELPENED
16:739342-739342 A>G	1.0	4213	COLON	-	-	-	-	WDR24	ENST00000293883,p.V100A|NM_032259,p.V100A|ENST00000248142,p.V162A|uc002ciz.1,p.V100A	retained_intron, protein_coding	uc002ciz.1	nonsynonymous SNV	exon1	c.T299C	p.V100A	NLLATAATNGVVVTWNLGRPSRNKQ	NLLATAATNGVVATWNLGRPSRNKQ	7.0	6.0	-	-	4213_16:739342-739342 A>G_NLLATAATNGVVATWNLGRPSRNKQ
7:24905793-24905793 G>C	1.0	4213	COLON	-	-	-	-	OSBPL3	ENST00000409452,p.Q149E|uc003sxi.3,p.Q149E|ENST00000396431,p.Q149E|uc003sxg.3,p.Q149E|ENST00000313367,p.Q149E|NM_145320,p.Q149E|uc003sxf.3,p.Q149E|uc003sxh.3,p.Q149E|NM_145322,p.Q149E|ENST00000396429,p.Q149E|ENST00000353930,p.Q149E|ENST00000409759,p.Q149E|ENST00000352860,p.Q149E|ENST00000409863,p.Q149E|NM_145321,p.Q149E|ENST00000431825,p.Q149E|ENST00000409555,p.Q149E|ENST00000409069,p.Q149E|NM_015550,p.Q149E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003sxi.3	nonsynonymous SNV	exon6	c.C445G	p.Q149E	WVSKLRHHRMYRQNEIAMFPHEVNH	WVSKLRHHRMYRENEIAMFPHEVNH	8.0	4.0	-	-	4213_7:24905793-24905793 G>C_WVSKLRHHRMYRENEIAMFPHEVNH
4:48027240-48027240 C>T	1.0	4213	COLON	-	-	-	-	NIPAL1	uc003gxw.3,p.L68F|NM_207330,p.L68F|ENST00000511123,p.L33F|ENST00000511852,p.L68F|ENST00000295461,p.L68F	protein_coding, processed_transcript, nonsense_mediated_decay	uc003gxw.3	nonsynonymous SNV	exon2	c.C202T	p.L68F	LSISANVENKYSLYVGLVLAVSSSI	LSISANVENKYSFYVGLVLAVSSSI	6.0	3.0	-	-	4213_4:48027240-48027240 C>T_LSISANVENKYSFYVGLVLAVSSSI
12:45742378-45742379 CT>-	1.0	4213	COLON	-	-	-	-	ANO6	uc010sld.1,p.N237fs|uc010slf.2,p.N258fs|ENST00000423947,p.N258fs|ENST00000435642,p.N237fs|NM_001142679,p.N237fs|uc010slg.2,p.N219fs|ENST00000320560,p.N237fs|NM_001142678,p.N219fs|ENST00000441606,p.N219fs|NM_001025356,p.N237fs|uc001roo.3,p.N237fs|ENST00000425752,p.N237fs|NM_001204803,p.N258fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010slg.2	frameshift deletion	exon6	c.657_658del	p.N219fs	NNVSKFGINRLVNSGIYKAAFPLHD	NNVSKFGINRLVNWDLQGSFPTP	9.0	4.0	-	-	4213_12:45742378-45742379 CT>-_NNVSKFGINRLVNWDLQGSFPTP
X:63411451-63411451 ->TCCCAATACAACAACTGTTTCTGGA	0.0	4213	COLON	-	-	-	1	AMER1	ENST00000374869,p.E572fs|NM_152424,p.E572fs|ENST00000403336,p.E572fs|uc004dvo.3,p.E572fs|uc022byb.1,p.E572fs|ENST00000330258,p.E572fs	protein_coding	uc022byb.1	frameshift insertion	exon1	c.1715_1716insTCCAGAAACAGTTGTTGTATTGGGA	p.E572fs	RLVTIQKQLLYWELRREQLEAQEAR	RLVTIQKQLLYWDPETVVVLGASAGAA	6.0	10.0	-	-	4213_X:63411451-63411451 ->TCCCAATACAACAACTGTTTCTGGA_RLVTIQKQLLYWDPETVVVLGASAGAA
5:170222393-170222393 G>T	1.0	4213	COLON	-	-	-	-	GABRP	ENST00000519385,p.R141L|NM_001291985,p.R141L|ENST00000521481,p.R141L|ENST00000518525,p.R141L|NM_014211,p.R141L|uc003mau.3,p.R141L|ENST00000522868,p.R141L|uc011dev.2,p.R141L|ENST00000519598,p.R141L|ENST00000265294,p.R141L	retained_intron, protein_coding	uc011dev.2	nonsynonymous SNV	exon5	c.G422T	p.R141L	FLHEVTVGNRLIRLFSNGTVLYALR	FLHEVTVGNRLILLFSNGTVLYALR	5.0	7.0	-	-	4213_5:170222393-170222393 G>T_FLHEVTVGNRLILLFSNGTVLYALR
12:111958692-111958692 G>A	1.0	4213	COLON	-	-	ID=COSM226724;OCCURENCE=1(skin)	-	ATXN2	ENST00000377617,p.S421L|ENST00000550104,p.S421L|ENST00000542287,p.S156L|ENST00000535949,p.S132L|ENST00000548492,p.S164L|NM_002973,p.S421L|uc001tsj.3,p.S421L|uc001tsi.3,p.S132L|uc001tsh.3,p.S156L|ENST00000389153,p.S156L|uc001tsm.1,p.S156L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001tsm.1	nonsynonymous SNV	exon7	c.C467T	p.S156L	YGVVSTYDSSLSSYTVPLERDNSEE	YGVVSTYDSSLSLYTVPLERDNSEE	9.0	10.0	-	-	4213_12:111958692-111958692 G>A_YGVVSTYDSSLSLYTVPLERDNSEE
1:103377717-103377717 G>-	0.0	4213	COLON	-	-	-	-	COL11A1	NM_080629,p.R1374fs|NM_001854,p.R1362fs|ENST00000512756,p.R1246fs|ENST00000358392,p.R1374fs|ENST00000353414,p.R1323fs|NM_080630,p.R1246fs|uc001dul.3,p.R1362fs|NM_001190709,p.R1323fs|uc001duk.3,p.R558fs|uc001dun.3,p.R1323fs|uc001dum.3,p.R1374fs|ENST00000370096,p.R1362fs|uc009weh.3,p.R1246fs	retained_intron, protein_coding, processed_transcript	uc009weh.3	frameshift deletion	exon52	c.3736delC	p.R1246fs	SGEAGPPGPPGKRGPPGAAGAEGRQ	SGEAGPPGPPGKEVLLELQVQREDKVKKVLRGKQVQKVLLEKPAQSVLRDLQESLVQKVFGASLVLWENKVSLELQAKMDHLVLWDLLAYLVSKVTLAPRVKRDILV	7.0	9.0	-	-	4213_1:103377717-103377717 G>-_SGEAGPPGPPGKEVLLELQVQREDKVKKVLRGKQVQKVLLEKPAQSVLRDLQESLVQKVFGASLVLWENKVSLELQAKMDHLVLWDLLAYLVSKVTLAPRVKRDILV
15:40591062-40591062 G>A	0.0	4213	COLON	-	-	-	-	PLCB2	NM_001284298,p.R263W|uc010bbo.3,p.R263W|ENST00000558588,p.R263W|uc001zld.3,p.R263W|ENST00000456256,p.R263W|NM_001284297,p.R263W|uc010ucm.2,p.R263W|ENST00000260402,p.R263W|ENST00000557821,p.R263W|NM_004573,p.R263W	retained_intron, protein_coding, nonsense_mediated_decay	uc010ucm.2	nonsynonymous SNV	exon9	c.C787T	p.R263W	DSRLNSLLFPPARPDQVQGLIDKYE	DSRLNSLLFPPAWPDQVQGLIDKYE	9.0	10.0	-	-	4213_15:40591062-40591062 G>A_DSRLNSLLFPPAWPDQVQGLIDKYE
1:38185600-38185600 C>A	1.0	4213	COLON	-	-	-	-	EPHA10	uc009vvi.3,p.W848L|ENST00000427468,p.W848L|ENST00000534097,p.W348L|ENST00000330210,p.W343L|ENST00000373048,p.W848L|NM_001099439,p.W848L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009vvi.3	nonsynonymous SNV	exon14	c.G2543T	p.W848L	MWEVMAFGERPYWDMSGQDVIKAVE	MWEVMAFGERPYLDMSGQDVIKAVE	7.0	6.0	-	-	4213_1:38185600-38185600 C>A_MWEVMAFGERPYLDMSGQDVIKAVE
7:128487765-128487765 G>A	1.0	4213	COLON	-	-	ID=COSM1447953;OCCURENCE=1(large_intestine)	-	FLNC	NM_001127487,p.V1435M|ENST00000325888,p.V1435M|uc003voa.4,p.V1435M|NM_001458,p.V1435M|ENST00000346177,p.V1435M|uc003vnz.4,p.V1435M	retained_intron, protein_coding	uc003voa.4	nonsynonymous SNV	exon25	c.G4303A	p.V1435M	FGGRPIPGSPFRVPVKDVVDPGKVK	FGGRPIPGSPFRMPVKDVVDPGKVK	7.0	10.0	-	-	4213_7:128487765-128487765 G>A_FGGRPIPGSPFRMPVKDVVDPGKVK
6:149699789-149699789 A>C	1.0	4213	COLON	-	-	-	-	TAB2	NM_015093,p.Q246H|uc003qmj.3,p.Q246H|ENST00000470466,p.Q246H|uc010kia.1,p.Q246H|NM_001292035,p.Q214H|ENST00000536230,p.Q214H|NM_001292034,p.Q246H|ENST00000286332,p.Q246H|ENST00000367456,p.Q246H|ENST00000538427,p.Q246H|uc010kib.2,p.Q246H|ENST00000392282,p.Q246H|uc011eec.2,p.Q214H	protein_coding, processed_transcript, nonsense_mediated_decay	uc011eec.2	nonsynonymous SNV	exon2	c.A642C	p.Q214H	GWVSQFNPMNPQQVYQPSQPGPWTT	GWVSQFNPMNPQHVYQPSQPGPWTT	9.0	3.0	-	-	4213_6:149699789-149699789 A>C_GWVSQFNPMNPQHVYQPSQPGPWTT
1:38272581-38272581 A>C	1.0	4213	COLON	-	-	-	-	YRDC	NM_024640,p.L191R|uc001cca.1,p.L191R|ENST00000373044,p.L191R	protein_coding	uc001cca.1	nonsynonymous SNV	exon3	c.T572G	p.L191R	FMQDLAQMFEGPLALTSANLSSQAS	FMQDLAQMFEGPRALTSANLSSQAS	7.0	7.0	-	-	4213_1:38272581-38272581 A>C_FMQDLAQMFEGPRALTSANLSSQAS
12:110206078-110206078 C>T	1.0	4213	COLON	-	-	-	-	FAM222A	ENST00000358906,p.T115M|uc001tpd.2,p.T115M|ENST00000538780,p.T115M|NM_032829,p.T115M	protein_coding, processed_transcript	uc001tpd.2	nonsynonymous SNV	exon3	c.C344T	p.T115M	LAIVKAAVSSSSTAAPAGPAKSVLK	LAIVKAAVSSSSMAAPAGPAKSVLK	6.0	9.0	-	-	4213_12:110206078-110206078 C>T_LAIVKAAVSSSSMAAPAGPAKSVLK
4:996922-996922 T>G	1.0	4213	COLON	-	-	-	-	IDUA	ENST00000247933,p.F501V|uc003gca.3,p.F523V|ENST00000453894,p.F523V|ENST00000514224,p.F369V|uc003gby.3,p.F501V|NM_000203,p.F501V	retained_intron, protein_coding, processed_transcript	uc003gca.3	nonsynonymous SNV	exon7	c.T1567G	p.F523V	RLGRPVFPTAEQFRRMRAAEDPVAA	RLGRPVFPTAEQVRRMRAAEDPVAA	9.0	1.0	unscreened	-	4213_4:996922-996922 T>G_RLGRPVFPTAEQVRRMRAAEDPVAA
19:9006731-9006731 A>C	0.0	4213	COLON	-	-	-	2	MUC16	NM_024690,p.F13173V|ENST00000397910,p.F13173V|uc002mkp.3,p.F13173V	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon44	c.T39517G	p.F13173V	TTGPLLVPFTLNFTITNLQYEENMG	TTGPLLVPFTLNVTITNLQYEENMG	5.0	3.0	unscreened	-	4213_19:9006731-9006731 A>C_TTGPLLVPFTLNVTITNLQYEENMG
1:244218580-244218580 G>T	1.0	4213	COLON	-	-	-	-	ZBTB18	NM_001278196,p.V493L|uc001iae.4,p.V493L|NM_205768,p.V502L|uc001iad.5,p.V502L|NM_006352,p.V493L|uc031psv.1,p.V493L|ENST00000358704,p.V502L	protein_coding	uc031psv.1	nonsynonymous SNV	exon2	c.G1477T	p.V493L	LYRHIRKFHCELVNSLSVKSEALSL	LYRHIRKFHCELLNSLSVKSEALSL	8.0	10.0	-	-	4213_1:244218580-244218580 G>T_LYRHIRKFHCELLNSLSVKSEALSL
1:155449746-155449746 T>A	1.0	4213	COLON	-	-	-	-	ASH1L	uc009wqq.3,p.K972M|ENST00000368346,p.K972M|uc009wqr.1,p.K972M|NM_018489,p.K972M|ENST00000392403,p.K972M|uc001fkt.3,p.K972M	retained_intron, protein_coding, nonsense_mediated_decay	uc009wqr.1	nonsynonymous SNV	exon4	c.A2915T	p.K972M	SDLEMEPDKKITKRNNGQLMKTIIR	SDLEMEPDKKITMRNNGQLMKTIIR	8.0	4.0	-	-	4213_1:155449746-155449746 T>A_SDLEMEPDKKITMRNNGQLMKTIIR
5:66492416-66492416 A>C	0.0	4213	COLON	-	-	-	-	CD180	NM_005582,p.C18W|uc003juy.2,p.C18W|ENST00000256447,p.C18W	retained_intron, protein_coding	uc003juy.2	nonsynonymous SNV	exon1	c.T54G	p.C18W	SCFFWVVLFSAGCKVITSWDQMCIE	SCFFWVVLFSAGWKVITSWDQMCIE	7.0	7.0	-	-	4213_5:66492416-66492416 A>C_SCFFWVVLFSAGWKVITSWDQMCIE
8:98289315-98289315 C>A	0.0	4213	COLON	-	-	-	-	TSPYL5	ENST00000322128,p.G253V|NM_033512,p.G253V|uc003yhy.3,p.G253V	protein_coding	uc003yhy.3	nonsynonymous SNV	exon1	c.G758T	p.G253V	RNHLIQNIPGFWGQAFQNHPQLASF	RNHLIQNIPGFWVQAFQNHPQLASF	6.0	2.0	-	-	4213_8:98289315-98289315 C>A_RNHLIQNIPGFWVQAFQNHPQLASF
15:85619107-85619107 C>T	1.0	4213	COLON	-	-	-	-	PDE8A	ENST00000339708,p.S150L|ENST00000478717,p.S150L|ENST00000485596,p.S150L|ENST00000559742,p.S150L|NM_173454,p.S150L|ENST00000310298,p.S150L|NM_001243137,p.S78L|uc002bli.3,p.S150L|ENST00000557957,p.S78L|uc002blh.3,p.S150L|ENST00000394553,p.S150L|NM_002605,p.S150L|uc021stv.1,p.S78L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021stv.1	nonsynonymous SNV	exon4	c.C233T	p.S78L	LDAEALCRSIRSSKLSENTVIVGVV	LDAEALCRSIRSLKLSENTVIVGVV	9.0	6.0	-	-	4213_15:85619107-85619107 C>T_LDAEALCRSIRSLKLSENTVIVGVV
16:23490232-23490232 C>T	1.0	4213	COLON	-	-	-	-	GGA2	NM_015044,p.G377E|ENST00000309859,p.G377E|uc002dlq.3,p.G377E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dlq.3	nonsynonymous SNV	exon12	c.G1130A	p.G377E	VPSLLHQDLAALGISDAPVTGMVSG	VPSLLHQDLAALEISDAPVTGMVSG	10.0	4.0	-	-	4213_16:23490232-23490232 C>T_VPSLLHQDLAALEISDAPVTGMVSG
16:88789055-88789055 T>A	1.0	4213	COLON	-	-	-	-	PIEZO1	uc010vpb.2,p.S1571C|NM_001142864,p.S1571C|ENST00000301015,p.S1571C	retained_intron, protein_coding, nonsense_mediated_decay	uc010vpb.2	nonsynonymous SNV	exon35	c.A4711T	p.S1571C	EVHRGVLDQLYTSQAEATLPGPTEA	EVHRGVLDQLYTCQAEATLPGPTEA	10.0	6.0	-	-	4213_16:88789055-88789055 T>A_EVHRGVLDQLYTCQAEATLPGPTEA
1:36937958-36937958 T>C	0.0	4213	COLON	-	-	-	1	CSF3R	ENST00000331941,p.E293G|uc001caw.2,p.E293G|uc001cax.2,p.E293G|NM_156039,p.E293G|NM_000760,p.E293G|uc001cav.2,p.E293G|ENST00000418048,p.E293G|ENST00000373106,p.E293G|ENST00000338937,p.E293G|ENST00000373103,p.E293G|ENST00000361632,p.E293G|ENST00000373104,p.E293G|ENST00000440588,p.E293G|NM_172313,p.E293G	retained_intron, protein_coding, processed_transcript	uc001cax.2	nonsynonymous SNV	exon8	c.A878G	p.E293G	LVGPLPLEALQYELCGLLPATAYTL	LVGPLPLEALQYGLCGLLPATAYTL	8.0	3.0	-	-	4213_1:36937958-36937958 T>C_LVGPLPLEALQYGLCGLLPATAYTL
2:131103460-131103460 A>G	1.0	4213	COLON	-	-	-	-	IMP4	NM_033416,p.K183R|ENST00000259239,p.K183R|ENST00000409649,p.K98R|ENST00000428740,p.K128R|uc002tra.1,p.K183R|ENST00000409935,p.K183R	retained_intron, protein_coding, nonsense_mediated_decay	uc002tra.1	nonsynonymous SNV	exon6	c.A548G	p.K183R	HDIPDLGTMSEAKPHLITHGFSSRL	HDIPDLGTMSEARPHLITHGFSSRL	10.0	5.0	-	-	4213_2:131103460-131103460 A>G_HDIPDLGTMSEARPHLITHGFSSRL
17:7577538-7577538 C>T	1.0	4213	COLON	-	-	ID=COSM99021,COSM99020,COSM10662,COSM99602,COSM3356964,COSM1640830;OCCURENCE=37(urinary_tract),1(adrenal_gland),2(kidney),17(pancreas),8(liver),5(prostate),154(large_intestine),4(biliary_tract),72(breast),13(skin),7(small_intestine),12(endometrium),1(pituitary),32(ovary),3(cervix),58(haematopoietic_and_lymphoid_tissue),1(pleura),5(thyroid),1(peritoneum),18(lung),37(upper_aerodigestive_tract),2(NS),4(bone),3(vulva),37(oesophagus),45(central_nervous_system),37(stomach)	1	TP53	NM_001126114,p.R248Q|NM_001276698,p.R89Q|ENST00000445888,p.R248Q|ENST00000269305,p.R248Q|NM_001126113,p.R248Q|uc010cng.2,p.R89Q|uc002gig.1,p.R248Q|NM_001276761,p.R209Q|NM_001126117,p.R116Q|ENST00000413465,p.R248Q|uc002gio.3,p.R116Q|uc002gih.3,p.R248Q|NM_001276697,p.R89Q|NM_001276695,p.R209Q|NM_001126112,p.R248Q|uc031qyq.1,p.R209Q|NM_001276696,p.R209Q|uc002gij.3,p.R209Q|ENST00000420246,p.R248Q|NM_001276699,p.R89Q|NM_001126115,p.R116Q|NM_000546,p.R248Q|uc002gii.2,p.R89Q|ENST00000509690,p.R116Q|ENST00000359597,p.R248Q|uc002gin.3,p.R155Q|NM_001276760,p.R209Q|NM_001126118,p.R209Q|ENST00000455263,p.R248Q|NM_001126116,p.R116Q|uc010cnf.2,p.R89Q	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon6	c.G626A	p.R209Q	YMCNSSCMGGMNRRPILTIITLEDS	YMCNSSCMGGMNQRPILTIITLEDS	10.0	10.0	-	-	4213_17:7577538-7577538 C>T_YMCNSSCMGGMNQRPILTIITLEDS
5:140812344-140812344 C>T	1.0	4213	COLON	-	-	-	-	PCDHGA12	NM_003735,p.A673V|uc011dba.2,p.A673V|ENST00000252085,p.A673V|uc003lkt.2,p.A673V|NM_032094,p.A673V	protein_coding	uc011dba.2	nonsynonymous SNV	exon1	c.C2018T	p.A673V	TVAVADSIPQVLADLGSLESPANSE	TVAVADSIPQVLVDLGSLESPANSE	6.0	8.0	-	-	4213_5:140812344-140812344 C>T_TVAVADSIPQVLVDLGSLESPANSE
2:125204405-125204405 A>T	1.0	4213	COLON	-	-	-	-	CNTNAP5	uc002tno.3,p.H270L|NM_130773,p.H270L|ENST00000431078,p.H270L|uc010flu.3,p.H270L	retained_intron, protein_coding, processed_transcript	uc010flu.3	nonsynonymous SNV	exon6	c.A809T	p.H270L	ATLGSLLDDQHWHSVLIERVGKQVN	ATLGSLLDDQHWLSVLIERVGKQVN	3.0	5.0	-	-	4213_2:125204405-125204405 A>T_ATLGSLLDDQHWLSVLIERVGKQVN
12:25398284-25398284 C>T	1.0	4213	COLON	-	-	ID=COSM521,COSM1135366;OCCURENCE=1(salivary_gland),171(endometrium),265(ovary),20(soft_tissue),19(urinary_tract),1(kidney),2323(pancreas),15(liver),3(eye),22(prostate),321(biliary_tract),6237(large_intestine),18(breast),24(skin),58(small_intestine),25(upper_aerodigestive_tract),10(oesophagus),4(central_nervous_system),93(stomach),2(testis),19(cervix),114(haematopoietic_and_lymphoid_tissue),15(gastrointestinal_tract_(site_indeterminate)),37(thyroid),737(lung),25(peritoneum)	1	KRAS	ENST00000256078,p.G12D|NM_033360,p.G12D|ENST00000556131,p.G12D|ENST00000557334,p.G12D|ENST00000311936,p.G12D|NM_004985,p.G12D|uc001rgq.1,p.G12D|uc001rgp.1,p.G12D	protein_coding	uc001rgq.1	nonsynonymous SNV	exon2	c.G35A	p.G12D	MTEYKLVVVGAGGVGKSALTIQLI	MTEYKLVVVGADGVGKSALTIQLI	8.0	9.0	-	-	4213_12:25398284-25398284 C>T_MTEYKLVVVGADGVGKSALTIQLI
17:11672508-11672508 C>T	0.0	4213	COLON	-	-	-	-	DNAH9	ENST00000454412,p.R2472W|NM_001372,p.R2472W|uc002gne.3,p.R2472W|uc010coo.3,p.R1766W|ENST00000262442,p.R2472W	retained_intron, protein_coding, processed_transcript	uc010coo.3	nonsynonymous SNV	exon26	c.C5296T	p.R1766W	VCYFMERLMARQRPVMLVGTAGTGK	VCYFMERLMARQWPVMLVGTAGTGK	5.0	6.0	-	-	4213_17:11672508-11672508 C>T_VCYFMERLMARQWPVMLVGTAGTGK
5:140741378-140741378 C>T	1.0	4213	COLON	-	-	-	-	PCDHGB2	NM_032096,p.A559V|NM_018923,p.A559V|uc003ljs.2,p.A559V|uc011dar.2,p.A559V|ENST00000522605,p.A559V	protein_coding	uc011dar.2	nonsynonymous SNV	exon1	c.C1676T	p.A559V	SLRVLVGDLNDNAPRVLYPALGPDG	SLRVLVGDLNDNVPRVLYPALGPDG	6.0	10.0	-	-	4213_5:140741378-140741378 C>T_SLRVLVGDLNDNVPRVLYPALGPDG
4:25834625-25834625 C>T	1.0	4213	COLON	-	-	-	-	SEL1L3	NM_001297592,p.G329R|NM_015187,p.G364R|NM_001297594,p.G211R|uc003gru.4,p.G364R|ENST00000399878,p.G364R|ENST00000264868,p.G329R|ENST00000502949,p.G211R	retained_intron, protein_coding, processed_transcript	uc003gru.4	nonsynonymous SNV	exon5	c.G1090A	p.G364R	LKEWFRLDISFNGGQIVVTTSIGQD	LKEWFRLDISFNRGQIVVTTSIGQD	10.0	8.0	-	-	4213_4:25834625-25834625 C>T_LKEWFRLDISFNRGQIVVTTSIGQD
12:56721318-56721318 G>T	1.0	4213	COLON	-	-	-	-	PAN2	uc001skz.3,p.A250D|uc001sky.3,p.A250D|ENST00000425394,p.A250D|ENST00000548043,p.A250D|NM_001127460,p.A250D|ENST00000440411,p.A250D|NM_001166279,p.A250D|ENST00000257931,p.A250D|NM_014871,p.A250D|uc001skx.3,p.A250D	retained_intron, protein_coding, processed_transcript	uc001skz.3	nonsynonymous SNV	exon6	c.C749A	p.A250D	SLSDFDVHGNLLAACGFSSRLTGLA	SLSDFDVHGNLLDACGFSSRLTGLA	10.0	9.0	-	-	4213_12:56721318-56721318 G>T_SLSDFDVHGNLLDACGFSSRLTGLA
19:22155884-22155884 G>T	1.0	4213	COLON	0.01	-	-	-	ZNF208	uc021urr.1,p.T651N|NM_007153,p.T651N|ENST00000397126,p.T651N	protein_coding	uc021urr.1	nonsynonymous SNV	exon4	c.C1952A	p.T651N	CKECGKTFIKVSTLTTHKAIHAGEK	CKECGKTFIKVSNLTTHKAIHAGEK	5.0	2.0	unscreened	-	4213_19:22155884-22155884 G>T_CKECGKTFIKVSNLTTHKAIHAGEK
13:102029307-102029307 C>T	0.0	4213	COLON	-	-	-	-	NALCN	uc001vpa.2,p.R159Q|ENST00000376196,p.R159Q|uc001vox.1,p.R159Q|ENST00000376200,p.R159Q|ENST00000251127,p.R159Q|uc001voz.2,p.R159Q|NM_052867,p.R159Q	retained_intron, protein_coding, processed_transcript	uc001vpa.2	nonsynonymous SNV	exon5	c.G476A	p.R159Q	PLIMIRAFRIYFRFELPRTRITNIL	PLIMIRAFRIYFQFELPRTRITNIL	5.0	10.0	-	-	4213_13:102029307-102029307 C>T_PLIMIRAFRIYFQFELPRTRITNIL
11:72525602-72525602 C>T	0.0	4213	COLON	-	-	-	-	ATG16L2	uc010rrf.1,p.P38S|ENST00000544490,p.P38S|NM_033388,p.P38S|uc009ytj.2,p.P38S|ENST00000435507,p.P38S|ENST00000534905,p.P38S|ENST00000321297,p.P38S|uc001otc.1,p.P38S|uc001otd.3,p.P38S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rrf.1	nonsynonymous SNV	exon1	c.C112T	p.P38S	DRTQKALFLELVPAYNHLLEKAELL	DRTQKALFLELVSAYNHLLEKAELL	8.0	7.0	-	-	4213_11:72525602-72525602 C>T_DRTQKALFLELVSAYNHLLEKAELL
7:4874846-4874846 G>A	1.0	4213	COLON	-	-	-	-	RADIL	uc011jwc.1,p.R30W|ENST00000536091,p.R270W|ENST00000399583,p.R270W|uc003snj.1,p.R270W|ENST00000538469,p.R30W|NM_018059,p.R270W	retained_intron, protein_coding, nonsense_mediated_decay	uc011jwc.1	nonsynonymous SNV	exon3	c.C88T	p.R30W	SQQHDSLVYVLNRDRHTVGQRTPSS	SQQHDSLVYVLNWDRHTVGQRTPSS	5.0	2.0	-	-	4213_7:4874846-4874846 G>A_SQQHDSLVYVLNWDRHTVGQRTPSS
1:1564667-1564667 T>-	1.0	4213	COLON	-	-	-	-	MIB2	NM_001170689,p.L721fs|uc001agm.3,p.L721fs|ENST00000378712,p.L721fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001agm.3	frameshift deletion	exon16	c.2162delT	p.L721fs	LDLAAEGRVLKALQGCAQRFRVRAQ	LDLAAEGRVLKALRAAPSASECARRMKKCIRCQVVVSKKLRPDGS	9.0	8.0	-	-	4213_1:1564667-1564667 T>-_LDLAAEGRVLKALRAAPSASECARRMKKCIRCQVVVSKKLRPDGS
19:11040212-11040212 C>A	1.0	4213	COLON	-	-	-	-	C19orf52	ENST00000270502,p.S206Y|uc002mqd.2,p.S206Y|NM_138358,p.S206Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mqd.2	nonsynonymous SNV	exon2	c.C617A	p.S206Y	AHLRVVGPQQLHSETNERLFDEKYK	AHLRVVGPQQLHYETNERLFDEKYK	8.0	8.0	-	-	4213_19:11040212-11040212 C>A_AHLRVVGPQQLHYETNERLFDEKYK
7:4874846-4874846 G>A	1.0	4213	COLON	-	-	-	-	RADIL	ENST00000445392,p.P268L	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000445392	nonsynonymous SNV	exon4	c.C803T	p.P268L	GYSQQHPGVCAQPGPAHGGPADPLQ	GYSQQHPGVCAQLGPAHGGPADPLQ	5.0	2.0	-	-	4213_7:4874846-4874846 G>A_GYSQQHPGVCAQLGPAHGGPADPLQ
2:27850671-27850671 G>A	1.0	4213	COLON	-	-	-	-	CCDC121	ENST00000394775,p.A161V|NM_001142683,p.A161V|uc002rld.3,p.A161V	protein_coding	uc002rld.3	nonsynonymous SNV	exon2	c.C482T	p.A161V	TKVETRLKEKIVAEMTDLNKHIKQA	TKVETRLKEKIVVEMTDLNKHIKQA	7.0	9.0	-	-	4213_2:27850671-27850671 G>A_TKVETRLKEKIVVEMTDLNKHIKQA
1:21106903-21106903 C>T	1.0	4213	COLON	-	-	-	-	HP1BP3	uc001bea.2,p.V11I|uc001beb.3,p.V11I|uc001bdw.1,p.V11I|uc001bdy.1,p.V11I|ENST00000417710,p.V11I|ENST00000414993,p.V11I|ENST00000438032,p.V11I|ENST00000375000,p.V11I|NM_016287,p.V11I|ENST00000312239,p.V11I	protein_coding, processed_transcript	uc001beb.3	nonsynonymous SNV	exon2	c.G31A	p.V11I	MATDTSQGELVHPKALPLIVGAQ	MATDTSQGELIHPKALPLIVGAQ	10.0	7.0	-	-	4213_1:21106903-21106903 C>T_MATDTSQGELIHPKALPLIVGAQ
10:7214498-7214498 G>A	0.0	4213	COLON	0.0005	-	-	-	SFMBT2	uc001ijn.2,p.R704W|NM_001018039,p.R704W|uc010qay.2,p.R539W|ENST00000397167,p.R704W|NM_001029880,p.R704W|uc009xio.2,p.R704W|ENST00000361972,p.R704W	protein_coding	uc010qay.2	nonsynonymous SNV	exon13	c.C1615T	p.R539W	RKRRKSIFVQKKRRSSAVDFTAGSG	RKRRKSIFVQKKWRSSAVDFTAGSG	7.0	6.0	-	-	4213_10:7214498-7214498 G>A_RKRRKSIFVQKKWRSSAVDFTAGSG
14:24458197-24458197 G>A	1.0	4213	COLON	-	-	-	-	DHRS4L2	uc001wli.4,p.R14Q|ENST00000558753,p.R14Q|ENST00000545240,p.R14Q|ENST00000559411,p.R14Q|ENST00000537912,p.R14Q|ENST00000335125,p.R14Q|NM_198083,p.R14Q|ENST00000397071,p.R14Q	retained_intron, protein_coding	uc001wli.4	nonsynonymous SNV	exon1	c.G41A	p.R14Q	QMARLLGLCAWARKSVRMASSRMTR	QMARLLGLCAWAQKSVRMASSRMTR	8.0	10.0	-	-	4213_14:24458197-24458197 G>A_QMARLLGLCAWAQKSVRMASSRMTR
3:165547854-165547854 T>G	1.0	4213	COLON	-	-	-	-	BCHE	ENST00000482958,p.D323A|ENST00000264381,p.D323A|ENST00000497011,p.D323A|NM_000055,p.D323A|uc003fem.4,p.D323A	protein_coding, nonsense_mediated_decay	uc003fem.4	nonsynonymous SNV	exon2	c.A968C	p.D323A	GTPLSVNFGPTVDGDFLTDMPDILL	GTPLSVNFGPTVAGDFLTDMPDILL	7.0	9.0	-	-	4213_3:165547854-165547854 T>G_GTPLSVNFGPTVAGDFLTDMPDILL
13:32753851-32753851 T>A	0.0	4213	COLON	-	-	-	-	FRY	ENST00000380250,p.L971M|NM_023037,p.L971M|uc001utx.3,p.L971M	protein_coding, processed_transcript, nonsense_mediated_decay	uc001utx.3	nonsynonymous SNV	exon23	c.T2911A	p.L971M	IGTPSVGVLLKQLVPLMRLESIEIT	IGTPSVGVLLKQMVPLMRLESIEIT	7.0	3.0	-	-	4213_13:32753851-32753851 T>A_IGTPSVGVLLKQMVPLMRLESIEIT
15:88472566-88472566 G>C	0.0	4213	COLON	-	-	-	1	NTRK3	uc010bnh.1,p.I655M|uc002bmf.2,p.I663M|NM_001012338,p.I663M|uc002bme.2,p.I663M|ENST00000557856,p.I655M|NM_002530,p.I663M|ENST00000357724,p.I655M|ENST00000542733,p.I565M|ENST00000360948,p.I663M|ENST00000355254,p.I663M|ENST00000558676,p.I655M|uc021sua.1,p.I655M|uc002bmh.2,p.I655M|NM_001243101,p.I655M|ENST00000394480,p.I663M|uc010upl.1,p.I565M	protein_coding, processed_transcript	uc021sua.1	nonsynonymous SNV	exon16	c.C1965G	p.I655M	LGLSQMLHIASQIASGMVYLASQHF	LGLSQMLHIASQMASGMVYLASQHF	7.0	8.0	-	-	4213_15:88472566-88472566 G>C_LGLSQMLHIASQMASGMVYLASQHF
7:71135066-71135066 G>C	0.0	4213	COLON	-	-	-	-	WBSCR17	uc003tvy.4,p.R459T|uc003tvz.4,p.R158T|ENST00000333538,p.R459T|NM_022479,p.R459T	protein_coding, processed_transcript	uc003tvz.4	nonsynonymous SNV	exon8	c.G473C	p.R158T	QWYLDHVYPEMRRYNNTVAYGELRN	QWYLDHVYPEMRTYNNTVAYGELRN	5.0	9.0	-	-	4213_7:71135066-71135066 G>C_QWYLDHVYPEMRTYNNTVAYGELRN
19:9452908-9452908 A>G	1.0	4213	COLON	-	-	-	-	ZNF559	NM_001202406,p.R325G|ENST00000538743,p.R181G|ENST00000603380,p.R261G|uc010xkn.2,p.R253G|NM_032497,p.R261G|uc031rjh.1,p.R30G|ENST00000605750,p.R247G|uc021uok.1,p.R261G|uc021uoj.1,p.R219G|NM_001202407,p.R219G|ENST00000393883,p.R261G|uc002mle.4,p.R325G|ENST00000587557,p.R325G|uc031rjg.1,p.R30G	protein_coding, processed_transcript	uc031rjh.1	nonsynonymous SNV	exon4	c.A88G	p.R30G	PFTESSYLTQHLRTHSRVLPIEHKK	PFTESSYLTQHLGTHSRVLPIEHKK	8.0	6.0	-	-	4213_19:9452908-9452908 A>G_PFTESSYLTQHLGTHSRVLPIEHKK
15:39880892-39880892 ->GTTTTCTGT	0.0	4213	COLON	-	-	-	-	THBS1	uc001zkh.3,p.C546delinsWFSV|ENST00000260356,p.C546delinsWFSV|NM_003246,p.C546delinsWFSV	retained_intron, protein_coding	uc001zkh.3	nonframeshift insertion	exon10	c.1637_1638insGTTTTCTGT	p.C546delinsWFSV	DVTENQICNKQDCPIDGCLSNPCFA	DVTENQICNKQDWFSVPIDGCLSNP	10.0	5.0	unscreened	-	4213_15:39880892-39880892 ->GTTTTCTGT_DVTENQICNKQDWFSVPIDGCLSNP
12:34179587-34179587 T>G	1.0	4213	COLON	-	-	-	-	ALG10	NM_032834,p.S387A|ENST00000266483,p.S387A|uc001rlm.3,p.S387A	retained_intron, protein_coding, nonsense_mediated_decay	uc001rlm.3	nonsynonymous SNV	exon3	c.T1159G	p.S387A	PAYIFAGWSIADSLKSKSIFWNLMF	PAYIFAGWSIADALKSKSIFWNLMF	7.0	3.0	-	-	4213_12:34179587-34179587 T>G_PAYIFAGWSIADALKSKSIFWNLMF
5:135508150-135508150 ->TAAACA	1.0	4213	COLON	-	-	-	-	SMAD5	ENST00000545279,p.P268delinsPKH|uc003lbj.1,p.P268delinsPKH|uc003lbk.1,p.P268delinsPKH|uc003lbl.1,p.P268delinsPKH|ENST00000545620,p.P268delinsPKH	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003lbl.1	nonframeshift insertion	exon5	c.803_804insTAAACA	p.P268delinsPKH	SSRDVQPVAYEEPKHWCSIVYYELN	SSRDVQPVAYEEPKHKHWCSIVYYE	9.0	7.0	CD8	-	4213_5:135508150-135508150 ->TAAACA_SSRDVQPVAYEEPKHKHWCSIVYYE
13:101742267-101742267 G>A	0.0	4213	COLON	-	-	-	-	NALCN	uc001vox.1,p.A1107V|ENST00000251127,p.A1107V|NM_052867,p.A1107V	retained_intron, protein_coding, processed_transcript	uc001vox.1	nonsynonymous SNV	exon29	c.C3320T	p.A1107V	NFNFDNVGNAMLALFEVLSLKGWVE	NFNFDNVGNAMLVLFEVLSLKGWVE	5.0	10.0	-	-	4213_13:101742267-101742267 G>A_NFNFDNVGNAMLVLFEVLSLKGWVE
5:90086811-90086811 A>C	0.0	4213	COLON	-	-	-	-	GPR98	NM_032119,p.E4722A|uc003kju.3,p.E4722A|ENST00000405460,p.E4722A|ENST00000425867,p.E383A|uc003kjw.3,p.E383A	retained_intron, protein_coding, processed_transcript	uc003kjw.3	nonsynonymous SNV	exon6	c.A1148C	p.E383A	SEASFDVHLLPDEVPEIEEDYVIQL	SEASFDVHLLPDAVPEIEEDYVIQL	5.0	1.0	unscreened	-	4213_5:90086811-90086811 A>C_SEASFDVHLLPDAVPEIEEDYVIQL
4:123855395-123855395 A>G	1.0	4213	COLON	-	-	-	-	SPATA5	ENST00000274008,p.M217V|uc003iey.3,p.M216V|uc003iez.4,p.M217V|NM_145207,p.M217V	protein_coding, processed_transcript	uc003iez.4	nonsynonymous SNV	exon5	c.A649G	p.M217V	GPQSDSDTDAQRMAFEQSSMETSSL	GPQSDSDTDAQRVAFEQSSMETSSL	6.0	8.0	-	-	4213_4:123855395-123855395 A>G_GPQSDSDTDAQRVAFEQSSMETSSL
20:62700815-62700815 A>T	0.0	4213	COLON	-	-	-	-	TCEA2	NM_198723,p.E117V|ENST00000343484,p.E144V|ENST00000361317,p.E117V|ENST00000458442,p.E117V|ENST00000339217,p.E117V|ENST00000440819,p.E117V|NM_003195,p.E144V|ENST00000395053,p.E144V	protein_coding, processed_transcript	NM_198723	nonsynonymous SNV	exon6	c.A350T	p.E117V	PVTCDAVRNKCREMLTAALQTDHDH	PVTCDAVRNKCRVMLTAALQTDHDH	8.0	3.0	-	-	4213_20:62700815-62700815 A>T_PVTCDAVRNKCRVMLTAALQTDHDH
19:23836934-23836934 ->TT	1.0	4213	COLON	-	-	-	-	ZNF675	ENST00000359788,p.Q267fs|uc002nri.3,p.Q267fs|NM_138330,p.Q267fs	retained_intron, protein_coding, nonsense_mediated_decay	uc002nri.3	frameshift insertion	exon4	c.800_801insAA	p.Q267fs	PYKCEECGKAFNQSSHLTTHKIIHT	PYKCEECGKAFNQSPHTLLHIR	8.0	7.0	-	-	4213_19:23836934-23836934 ->TT_PYKCEECGKAFNQSPHTLLHIR
14:102881004-102881004 A>C	1.0	4213	COLON	-	-	-	-	TECPR2	ENST00000359520,p.E171A|uc010awl.3,p.E171A|NM_014844,p.E171A|ENST00000558678,p.E171A|uc010txw.2,p.E171A|NM_001172631,p.E171A|uc001ylw.2,p.E171A	retained_intron, protein_coding, processed_transcript	uc010txw.2	nonsynonymous SNV	exon5	c.A512C	p.E171A	DQGLCNSQLVLEEPSSIVQLDYSQK	DQGLCNSQLVLEAPSSIVQLDYSQK	7.0	10.0	unscreened	-	4213_14:102881004-102881004 A>C_DQGLCNSQLVLEAPSSIVQLDYSQK
12:133502200-133502200 C>T	1.0	4213	COLON	-	-	-	-	ZNF605	ENST00000392321,p.G593E|uc001ulj.3,p.G562E|NM_001164715,p.G593E|ENST00000360187,p.G562E|uc001uli.3,p.G593E|uc001ulh.3,p.G562E|NM_183238,p.G562E	retained_intron, protein_coding, processed_transcript	uc001ulj.3	nonsynonymous SNV	exon4	c.G1685A	p.G562E	KHQRNHTGEKTYGCSDCAKAFFEKA	KHQRNHTGEKTYECSDCAKAFFEKA	7.0	1.0	unscreened	-	4213_12:133502200-133502200 C>T_KHQRNHTGEKTYECSDCAKAFFEKA
4:126336264-126336264 C>T	0.0	4213	COLON	-	-	-	1	FAT4	NM_024582,p.P2049L|ENST00000394329,p.P2049L|NM_001291285,p.P2049L|uc011cgp.2,p.P347L|NM_001291303,p.P2049L|ENST00000335110,p.P347L|uc003ifj.4,p.P2049L	retained_intron, protein_coding	uc011cgp.2	nonsynonymous SNV	exon5	c.C1040T	p.P347L	VSIILLDVNDNPPTFLSPKLTYIPE	VSIILLDVNDNPLTFLSPKLTYIPE	6.0	7.0	-	-	4213_4:126336264-126336264 C>T_VSIILLDVNDNPLTFLSPKLTYIPE
16:89346530-89346530 C>A	1.0	4213	COLON	-	-	-	-	ANKRD11	uc002fnb.1,p.E2097D|ENST00000301030,p.E2140D|uc002fnc.2,p.E2140D|NM_013275,p.E2140D|uc002fmx.2,p.E2140D|NM_001256182,p.E2140D|NM_001256183,p.E2140D|ENST00000378330,p.E2140D|uc002fmy.2,p.E2140D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc002fnc.2	nonsynonymous SNV	exon9	c.G6420T	p.E2140D	EDDLDLGPFSLPELPLQTKDAADGE	EDDLDLGPFSLPDLPLQTKDAADGE	9.0	6.0	-	-	4213_16:89346530-89346530 C>A_EDDLDLGPFSLPDLPLQTKDAADGE
3:87017925-87017925 G>A	0.0	4213	COLON	-	-	-	-	VGLL3	NM_016206,p.A251V|uc003dqn.3,p.A251V|ENST00000398399,p.A251V|ENST00000383698,p.A251V	protein_coding	uc003dqn.3	nonsynonymous SNV	exon3	c.C752T	p.A251V	RHRHHHHHHHPPAGSALDPSYGPLL	RHRHHHHHHHPPVGSALDPSYGPLL	7.0	9.0	-	-	4213_3:87017925-87017925 G>A_RHRHHHHHHHPPVGSALDPSYGPLL
13:39266147-39266147 C>A	0.0	4213	COLON	-	-	-	-	FREM2	uc001uwv.3,p.L1556I|ENST00000280481,p.L1556I|NM_207361,p.L1556I	protein_coding, processed_transcript	uc001uwv.3	nonsynonymous SNV	exon1	c.C4666A	p.L1556I	SESENKLITPFELTVEDRDTPDKLL	SESENKLITPFEITVEDRDTPDKLL	4.0	2.0	unscreened	-	4213_13:39266147-39266147 C>A_SESENKLITPFEITVEDRDTPDKLL
2:25359463-25359463 A>G	1.0	4213	COLON	-	-	-	-	EFR3B	ENST00000403714,p.K519R|ENST00000264719,p.K398R|uc010eyh.3,p.K519R|NM_014971,p.K519R|ENST00000402191,p.K484R|ENST00000401432,p.K519R|uc002rfw.2,p.K519R|ENST00000405108,p.K371R	protein_coding	uc010eyh.3	nonsynonymous SNV	exon14	c.A1556G	p.K519R	VDKCSRQDTVFMKKHSQQLYRHIYL	VDKCSRQDTVFMRKHSQQLYRHIYL	5.0	10.0	-	-	4213_2:25359463-25359463 A>G_VDKCSRQDTVFMRKHSQQLYRHIYL
5:45267221-45267221 T>C	1.0	4213	COLON	-	-	-	-	HCN1	uc003jok.3,p.T585A|NM_021072,p.T585A|ENST00000303230,p.T585A	protein_coding	uc003jok.3	nonsynonymous SNV	exon7	c.A1753G	p.T585A	LEEYPMMRRAFETVAIDRLDRIGKK	LEEYPMMRRAFEAVAIDRLDRIGKK	3.0	3.0	-	-	4213_5:45267221-45267221 T>C_LEEYPMMRRAFEAVAIDRLDRIGKK
15:41364095-41364095 T>G	1.0	4213	COLON	-	-	-	-	INO80	uc001zni.3,p.K519N|ENST00000401393,p.K519N|ENST00000361937,p.K519N|ENST00000558357,p.K519N|NM_017553,p.K519N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zni.3	nonsynonymous SNV	exon12	c.A1557C	p.K519N	DIPQPTIFNGKLKGYQLKGMNWLAN	DIPQPTIFNGKLNGYQLKGMNWLAN	9.0	10.0	-	-	4213_15:41364095-41364095 T>G_DIPQPTIFNGKLNGYQLKGMNWLAN
22:21349261-21349261 C>T	1.0	4213	COLON	-	-	-	1	LZTR1	uc011ahy.2,p.R611W|ENST00000389355,p.R611W|ENST00000215739,p.R630W|uc002zto.3,p.R630W|ENST00000452988,p.R23W|uc002ztn.3,p.R589W|NM_006767,p.R630W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ahy.2	nonsynonymous SNV	exon15	c.C1831T	p.R611W	ERLSSPLIVEIVRRKQQPPPRTPLD	ERLSSPLIVEIVWRKQQPPPRTPLD	9.0	5.0	-	-	4213_22:21349261-21349261 C>T_ERLSSPLIVEIVWRKQQPPPRTPLD
5:140558070-140558070 C>T	0.0	4213	COLON	-	-	-	-	PCDHB8	NM_019120,p.A152V|ENST00000239444,p.A152V|uc011dai.2,p.A152V	protein_coding	uc011dai.2	nonsynonymous SNV	exon1	c.C455T	p.A152V	LVKVSESSPPGTAFPLKNAEDLDIG	LVKVSESSPPGTVFPLKNAEDLDIG	5.0	2.0	unscreened	-	4213_5:140558070-140558070 C>T_LVKVSESSPPGTVFPLKNAEDLDIG
3:113775283-113775283 A>C	1.0	4213	COLON	-	-	-	-	KIAA1407	uc003eax.3,p.S11A|ENST00000491000,p.S11A|NM_020817,p.S11A|ENST00000460813,p.S11A|ENST00000295878,p.S11A|ENST00000463695,p.S11A|uc011bip.1,p.S11A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bip.1	nonsynonymous SNV	exon1	c.T31G	p.S11A	MLLAPQGRSFSKKRMGLNRWKRF	MLLAPQGRSFAKKRMGLNRWKRF	7.0	4.0	-	-	4213_3:113775283-113775283 A>C_MLLAPQGRSFAKKRMGLNRWKRF
2:61528289-61528289 A>C	1.0	4213	COLON	-	-	-	-	USP34	ENST00000398571,p.F1309V|uc002sbe.3,p.F1309V|NM_014709,p.F1309V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002sbe.3	nonsynonymous SNV	exon29	c.T3925G	p.F1309V	LHELGFKDMQMVFVSLGAPRRERKG	LHELGFKDMQMVVVSLGAPRRERKG	9.0	6.0	-	-	4213_2:61528289-61528289 A>C_LHELGFKDMQMVVVSLGAPRRERKG
1:39812737-39812737 A>G	0.0	4213	COLON	-	-	-	-	MACF1	ENST00000567887,p.D3594G|ENST00000564288,p.D3557G|ENST00000372915,p.D3562G|uc031pmd.1,p.D1997G|ENST00000289893,p.D1997G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pmd.1	nonsynonymous SNV	exon5	c.A5990G	p.D1997G	FDIQFFISEHAQDLSPQQNRQMLRL	FDIQFFISEHAQGLSPQQNRQMLRL	10.0	5.0	unscreened	-	4213_1:39812737-39812737 A>G_FDIQFFISEHAQGLSPQQNRQMLRL
9:33387044-33387044 T>-	0.0	4213	COLON	-	-	ID=COSM455844;OCCURENCE=1(breast)	-	AQP7	ENST00000379506,p.Y63fs|ENST00000539936,p.Y64fs|ENST00000379507,p.Y63fs|ENST00000297988,p.Y64fs|uc003zst.3,p.Y64fs|uc011lnx.1,p.Y64fs|NM_001170,p.Y64fs|uc011lny.1,p.Y63fs	protein_coding, processed_transcript	uc011lny.1	frameshift deletion	exon4	c.188delA	p.Y63fs	LGSVAHMVLNKKYGSYLGVNLGFGF	LGSVAHMVLNKKLGATLVSTWVLASESPWECTWQAASLEPT	5.0	1.0	unscreened	-	4213_9:33387044-33387044 T>-_LGSVAHMVLNKKLGATLVSTWVLASESPWECTWQAASLEPT
9:19350806-19350806 T>G	1.0	4213	COLON	-	-	-	-	DENND4C	uc011lnd.3,p.L478R|NM_017925,p.L1426R|uc031tcw.1,p.L1426R|ENST00000434457,p.L1475R|uc003zns.4,p.L372R|ENST00000380432,p.L1190R|ENST00000361024,p.L213R|uc003znt.3,p.L372R|ENST00000602925,p.L1426R|ENST00000307015,p.L663R|uc031tcx.1,p.L520R|uc031tcy.1,p.L520R|ENST00000540671,p.L520R|uc003znr.3,p.L478R	protein_coding, processed_transcript	uc031tcy.1	nonsynonymous SNV	exon20	c.T1559G	p.L520R	PNTSISGLVPSELTQSNTSLGSSSS	PNTSISGLVPSERTQSNTSLGSSSS	9.0	3.0	-	-	4213_9:19350806-19350806 T>G_PNTSISGLVPSERTQSNTSLGSSSS
5:138378367-138378367 T>C	1.0	4213	COLON	-	-	-	-	SIL1	ENST00000509534,p.K139R|NM_001037633,p.K132R|uc003ldo.3,p.K132R|uc003ldp.3,p.K132R|ENST00000265195,p.K132R|ENST00000508639,p.K132R|ENST00000394817,p.K132R|NM_022464,p.K132R	protein_coding, processed_transcript	uc003ldp.3	nonsynonymous SNV	exon5	c.A395G	p.K132R	DINTNTYTSQDLKSALAKFKEGAEM	DINTNTYTSQDLRSALAKFKEGAEM	10.0	5.0	-	-	4213_5:138378367-138378367 T>C_DINTNTYTSQDLRSALAKFKEGAEM
8:145727080-145727080 C>T	1.0	4213	COLON	0.0005	-	ID=COSM3395202;OCCURENCE=1(pancreas)	-	PPP1R16A	uc003zdd.3,p.R461C|NM_032902,p.R461C|uc003zdf.3,p.R461C|ENST00000435887,p.R461C|ENST00000292539,p.R461C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zdf.3	nonsynonymous SNV	exon10	c.C1381T	p.R461C	HDKAHHTLADLKRQRAAAKLQRPPP	HDKAHHTLADLKCQRAAAKLQRPPP	9.0	6.0	-	-	4213_8:145727080-145727080 C>T_HDKAHHTLADLKCQRAAAKLQRPPP
9:137716509-137716509 G>A	0.0	4213	COLON	-	-	-	-	COL5A1	ENST00000371817,p.D1588N|uc004cfe.4,p.D1588N|NM_001278074,p.D1588N|uc031tfl.1,p.D1588N|NM_000093,p.D1588N	retained_intron, protein_coding, processed_transcript	uc031tfl.1	nonsynonymous SNV	exon62	c.G4762A	p.D1588N	LPIQASRTRRNIDASQLLDDGNGEN	LPIQASRTRRNINASQLLDDGNGEN	9.0	7.0	-	-	4213_9:137716509-137716509 G>A_LPIQASRTRRNINASQLLDDGNGEN
1:248458732-248458732 T>A	0.0	4213	COLON	-	-	-	-	OR2T12	uc010pzj.2,p.D50V|ENST00000317996,p.D50V|NM_001004692,p.D50V	protein_coding	uc010pzj.2	nonsynonymous SNV	exon1	c.A149T	p.D50V	FSNALMILLIHWDHRLHRPMYFLLS	FSNALMILLIHWVHRLHRPMYFLLS	1.0	1.0	unscreened	-	4213_1:248458732-248458732 T>A_FSNALMILLIHWVHRLHRPMYFLLS
6:32322909-32322909 T>G	0.0	4213	COLON	-	-	-	-	C6orf10	ENST00000527965,p.N77T|uc011dpx.2,p.N77T|ENST00000442822,p.N77T|uc021yvv.1,p.N77T|NM_001286475,p.N77T|ENST00000532023,p.N88T	protein_coding	uc021yvv.1	nonsynonymous SNV	exon7	c.A230C	p.N77T	SERSKRDYTPSTNSLALSRSSIALP	SERSKRDYTPSTTSLALSRSSIALP	1.0	3.0	unscreened	-	4213_6:32322909-32322909 T>G_SERSKRDYTPSTTSLALSRSSIALP
6:32322909-32322909 T>G	0.0	4213	COLON	-	-	-	-	C6orf10	NM_001286474,p.N84T|ENST00000533191,p.N84T|uc011dpz.2,p.N84T|ENST00000375015,p.N84T|uc021yvu.1,p.N84T	protein_coding	uc021yvu.1	nonsynonymous SNV	exon8	c.A251C	p.N84T	RERSKRDYTPSTNSLALSRSSIALP	RERSKRDYTPSTTSLALSRSSIALP	1.0	3.0	-	-	4213_6:32322909-32322909 T>G_RERSKRDYTPSTTSLALSRSSIALP
3:151148130-151148130 C>T	1.0	4213	COLON	-	-	ID=COSM3784362;OCCURENCE=1(pancreas)	-	MED12L	uc011bnz.2,p.T1780M|NM_053002,p.T2116M|uc003eyp.3,p.T2116M|ENST00000474524,p.T2116M|ENST00000273432,p.T1780M	protein_coding, processed_transcript	uc011bnz.2	nonsynonymous SNV	exon36	c.C5339T	p.T1780M	RQGLQQTQQQQQTAALVRQLQKQLS	RQGLQQTQQQQQMAALVRQLQKQLS	3.0	10.0	-	-	4213_3:151148130-151148130 C>T_RQGLQQTQQQQQMAALVRQLQKQLS
6:89891741-89891741 G>A	1.0	4213	COLON	-	-	-	-	GABRR1	ENST00000454853,p.R278C|NM_001256703,p.R261C|ENST00000435811,p.R261C|uc031spe.1,p.R191C|NM_002042,p.R278C|uc011dzw.2,p.R191C|uc003pna.2,p.R278C|ENST00000369451,p.R191C|NM_001256704,p.R191C|uc011dzv.2,p.R261C|NM_001267582,p.R191C	protein_coding, processed_transcript, nonsense_mediated_decay	uc031spe.1	nonsynonymous SNV	exon10	c.C571T	p.R191C	GWYNRLYINFTLRRHIFFFLLQTYF	GWYNRLYINFTLCRHIFFFLLQTYF	4.0	6.0	-	-	4213_6:89891741-89891741 G>A_GWYNRLYINFTLCRHIFFFLLQTYF
6:78172849-78172849 A>G	0.0	4213	COLON	-	-	-	-	HTR1B	uc003pil.1,p.L91P|ENST00000369947,p.L91P|NM_000863,p.L91P	protein_coding	uc003pil.1	nonsynonymous SNV	exon1	c.T272C	p.L91P	KLHTPANYLIASLAVTDLLVSILVM	KLHTPANYLIASPAVTDLLVSILVM	5.0	4.0	-	-	4213_6:78172849-78172849 A>G_KLHTPANYLIASPAVTDLLVSILVM
19:17397493-17397493 G>T	0.0	4213	COLON	-	-	-	-	ANKLE1	ENST00000598347,p.C588F|uc010xpn.1,p.C642F|NM_001278444,p.C642F	retained_intron, protein_coding, nonsense_mediated_decay	uc010xpn.1	nonsynonymous SNV	exon8	c.G1925T	p.C642F	GVCVCVCVCVCVCVCLCVCVCV	GVCVCVCVCVCVFVCLCVCVCV	5.0	9.0	unscreened	-	4213_19:17397493-17397493 G>T_GVCVCVCVCVCVFVCLCVCVCV
1:45293559-45293559 C>T	0.0	4213	COLON	-	-	-	-	PTCH2	ENST00000372192,p.A672T|uc010olg.2,p.A370T|uc021omv.1,p.A672T|uc010olf.2,p.A672T|ENST00000447098,p.A672T|NM_003738,p.A672T|NM_001166292,p.A672T	protein_coding	uc021omv.1	nonsynonymous SNV	exon14	c.G2014A	p.A672T	SLPCARWNLAHFARYQFAPLLLQSH	SLPCARWNLAHFTRYQFAPLLLQSH	5.0	8.0	-	-	4213_1:45293559-45293559 C>T_SLPCARWNLAHFTRYQFAPLLLQSH
3:130119884-130119884 C>T	0.0	4213	COLON	-	-	-	-	COL6A5	ENST00000265379,p.A1334V|ENST00000432398,p.A1334V|NM_153264,p.A1334V|uc010htj.2,p.A1334V|uc010htk.2,p.A1334V|NM_001278298,p.A1334V|ENST00000312481,p.A1334V	protein_coding, nonsense_mediated_decay	uc010htk.2	nonsynonymous SNV	exon11	c.C4001T	p.A1334V	NQSDRLREAGLDALLVVSLNTTAHH	NQSDRLREAGLDVLLVVSLNTTAHH	6.0	6.0	unscreened	-	4213_3:130119884-130119884 C>T_NQSDRLREAGLDVLLVVSLNTTAHH
12:54686255-54686255 C>G	1.0	4213	COLON	-	-	-	-	NFE2	NM_006163,p.G342A|uc001sfq.4,p.G342A|ENST00000435572,p.G342A|ENST00000540264,p.G342A|uc001sfr.5,p.G342A|NM_001261461,p.G342A|ENST00000553070,p.G342A|ENST00000312156,p.G342A|uc009znl.4,p.G342A|NM_001136023,p.G342A|uc009znk.4,p.G342A	protein_coding	uc009znl.4	nonsynonymous SNV	exon4	c.G1025C	p.G342A	YRDIFQHLRDESGNSYSPEEYALQQ	YRDIFQHLRDESANSYSPEEYALQQ	6.0	6.0	-	-	4213_12:54686255-54686255 C>G_YRDIFQHLRDESANSYSPEEYALQQ
7:150094539-150094539 T>G	1.0	4213	COLON	-	-	-	-	ZNF775	ENST00000329630,p.L324V|NM_173680,p.L324V|uc003whf.1,p.L324V	protein_coding, processed_transcript	uc003whf.1	nonsynonymous SNV	exon3	c.T970G	p.L324V	PECGRRFSQKPNLTRHLRNHTGERP	PECGRRFSQKPNVTRHLRNHTGERP	9.0	5.0	-	-	4213_7:150094539-150094539 T>G_PECGRRFSQKPNVTRHLRNHTGERP
20:36932627-36932627 T>-	0.0	4213	COLON	-	-	-	-	BPI	ENST00000418004,p.M88fs	protein_coding, processed_transcript	ENST00000418004	frameshift deletion	exon3	c.263delT	p.M88fs	LRFWQLWRMRENMARGPCNAPRWAS	LRFWQLWRMRENRPGALATRRDGRP	5.0	5.0	unscreened	-	4213_20:36932627-36932627 T>-_LRFWQLWRMRENRPGALATRRDGRP
20:34542256-34542256 C>G	1.0	4213	COLON	-	-	-	-	SCAND1	uc002xen.2,p.S47T|NM_033630,p.S47T	protein_coding	uc002xen.2	nonsynonymous SNV	exon2	c.G140C	p.S47T	FRLPQALRWCRRSAEHTATGQRVTP	FRLPQALRWCRRTAEHTATGQRVTP	10.0	9.0	-	-	4213_20:34542256-34542256 C>G_FRLPQALRWCRRTAEHTATGQRVTP
9:113168941-113168941 T>G	0.0	4213	COLON	-	-	-	-	SVEP1	uc010mtz.3,p.K2980T|uc010mty.3,p.K906T|ENST00000297826,p.K906T|ENST00000401783,p.K2980T|NM_153366,p.K2980T|ENST00000374469,p.K2957T	protein_coding, processed_transcript	uc010mtz.3	nonsynonymous SNV	exon38	c.A8939C	p.K2980T	GGHIQYQCFPGYKLHGNSSRRCLSN	GGHIQYQCFPGYTLHGNSSRRCLSN	7.0	4.0	-	-	4213_9:113168941-113168941 T>G_GGHIQYQCFPGYTLHGNSSRRCLSN
15:56208863-56208863 G>C	0.0	4213	COLON	-	-	-	-	NEDD4	uc002adi.3,p.T56S|ENST00000508342,p.T56S|NM_001284338,p.T56S|uc010bfm.3,p.T56S|uc002adj.3,p.T56S|NM_001284339,p.T56S|ENST00000338963,p.T56S|NM_198400,p.T56S|ENST00000506154,p.T56S|uc010ugj.2,p.T56S|NM_001284340,p.T56S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ugj.2	nonsynonymous SNV	exon1	c.C167G	p.T56S	SNVVQMKLTPRQTALAPLIKENVQS	SNVVQMKLTPRQSALAPLIKENVQS	7.0	5.0	-	-	4213_15:56208863-56208863 G>C_SNVVQMKLTPRQSALAPLIKENVQS
6:41058019-41058019 T>G	1.0	4213	COLON	-	-	-	-	NFYA	NM_002505,p.V173G|ENST00000341376,p.V173G|uc003opq.3,p.V144G|uc031soo.1,p.V172G|uc003opp.3,p.V144G|NM_021705,p.V144G|uc003opo.3,p.V173G|ENST00000353205,p.V144G	protein_coding	uc031soo.1	nonsynonymous SNV	exon5	c.T515G	p.V172G	QTAEGQTIVYQPVNADGTILQQVTV	QTAEGQTIVYQPGNADGTILQQVTV	9.0	1.0	unscreened	-	4213_6:41058019-41058019 T>G_QTAEGQTIVYQPGNADGTILQQVTV
2:152319410-152319410 G>A	1.0	4213	COLON	-	-	-	-	RIF1	uc002txm.3,p.D1126N|ENST00000453091,p.D1126N|NM_001177663,p.D1126N|uc002txo.3,p.D1126N|ENST00000430328,p.D1126N|NM_001177664,p.D1126N|ENST00000243326,p.D1126N|NM_001177665,p.D1126N|ENST00000444746,p.D1126N|uc002txl.3,p.D1126N|NM_018151,p.D1126N|uc002txn.3,p.D1126N|ENST00000428287,p.D1126N	protein_coding, processed_transcript, nonsense_mediated_decay	uc002txo.3	nonsynonymous SNV	exon29	c.G3376A	p.D1126N	EDSKMMITEEQMDSDIVIPQDVTED	EDSKMMITEEQMNSDIVIPQDVTED	8.0	2.0	unscreened	-	4213_2:152319410-152319410 G>A_EDSKMMITEEQMNSDIVIPQDVTED
2:112614384-112614384 C>G	0.0	4213	COLON	-	rs141604036	-	-	ANAPC1	uc002thi.3,p.A480P|NM_022662,p.A480P|ENST00000341068,p.A480P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002thi.3	nonsynonymous SNV	exon12	c.G1438C	p.A480P	FGSVTNIPAKDAAPVEKIDTMLVLE	FGSVTNIPAKDAPPVEKIDTMLVLE	8.0	8.0	-	-	4213_2:112614384-112614384 C>G_FGSVTNIPAKDAPPVEKIDTMLVLE
9:35869981-35869981 G>T	0.0	4213	COLON	-	-	-	-	OR13J1	uc011lph.2,p.L140I|ENST00000377981,p.L140I|NM_001004487,p.L140I	protein_coding	uc011lph.2	nonsynonymous SNV	exon1	c.C418A	p.L140I	QPLRYHVLMSHRLCVLLMGAAWVLC	QPLRYHVLMSHRICVLLMGAAWVLC	1.0	7.0	unscreened	-	4213_9:35869981-35869981 G>T_QPLRYHVLMSHRICVLLMGAAWVLC
6:65303196-65303196 A>G	0.0	4213	COLON	-	-	-	-	EYS	uc011dxt.1,p.S143P|ENST00000370616,p.S1231P|ENST00000503581,p.S1231P|NM_001292009,p.S1231P|uc011dxu.1,p.S1231P|ENST00000370621,p.S1231P|NM_001142800,p.S1231P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxu.1	nonsynonymous SNV	exon25	c.T3691C	p.S1231P	STCLCTPGFMTCSIGLLCGDEIRRI	STCLCTPGFMTCPIGLLCGDEIRRI	4.0	1.0	unscreened	-	4213_6:65303196-65303196 A>G_STCLCTPGFMTCPIGLLCGDEIRRI
22:21349261-21349261 C>T	1.0	4213	COLON	-	-	-	1	LZTR1	ENST00000415354,p.A67V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000415354	nonsynonymous SNV	exon3	c.C200T	p.A67V	RAPLLSTDSGDCAAEAAAAPSHSLG	RAPLLSTDSGDCVAEAAAAPSHSLG	9.0	5.0	unscreened	-	4213_22:21349261-21349261 C>T_RAPLLSTDSGDCVAEAAAAPSHSLG
7:127991332-127991332 C>T	0.0	4213	COLON	-	-	-	-	PRRT4	ENST00000446477,p.G760R|NM_001174164,p.G760R|ENST00000435512,p.G554R|ENST00000535159,p.G760R|uc022aky.1,p.G760R	protein_coding	uc022aky.1	nonsynonymous SNV	exon6	c.G2278A	p.G760R	QGPAFEDALPGLGLYRTASLGTGGR	QGPAFEDALPGLRLYRTASLGTGGR	2.0	9.0	-	-	4213_7:127991332-127991332 C>T_QGPAFEDALPGLRLYRTASLGTGGR
11:64514789-64514789 C>T	0.0	4213	COLON	-	-	-	-	PYGM	uc001oax.4,p.R740Q|NM_005609,p.R740Q|NM_001164716,p.R652Q|ENST00000164139,p.R740Q|uc001oay.4,p.R652Q|ENST00000377432,p.R652Q	retained_intron, protein_coding, processed_transcript	uc001oay.4	nonsynonymous SNV	exon16	c.G1955A	p.R652Q	NAQEYYDRIPELRQVIEQLSSGFFS	NAQEYYDRIPELQQVIEQLSSGFFS	6.0	9.0	-	-	4213_11:64514789-64514789 C>T_NAQEYYDRIPELQQVIEQLSSGFFS
8:69020401-69020401 A>C	0.0	4213	COLON	-	-	-	1	PREX2	uc011lez.1,p.I860L|ENST00000288368,p.I925L|NM_024870,p.I925L|uc003xxv.1,p.I925L	protein_coding, processed_transcript	uc011lez.1	nonsynonymous SNV	exon22	c.A2578C	p.I860L	RAWPTFKQAKSKISPLHSSDFCPTN	RAWPTFKQAKSKLSPLHSSDFCPTN	6.0	1.0	unscreened	-	4213_8:69020401-69020401 A>C_RAWPTFKQAKSKLSPLHSSDFCPTN
9:39171582-39171582 T>C	0.0	4213	COLON	-	-	-	-	CNTNAP3	NM_033655,p.T373A|uc004abi.3,p.T373A|ENST00000297668,p.T373A|uc004abk.1,p.T373A|ENST00000323947,p.T373A|ENST00000358144,p.T285A|uc004abj.3,p.T373A|ENST00000443583,p.T373A|ENST00000377659,p.T373A|ENST00000377656,p.T373A|uc011lqs.1,p.T373A	protein_coding, processed_transcript, nonsense_mediated_decay	uc011lqs.1	nonsynonymous SNV	exon8	c.A1117G	p.T373A	SFSCPQPQTVPVTFLSSRSYLALPG	SFSCPQPQTVPVAFLSSRSYLALPG	5.0	1.0	unscreened	-	4213_9:39171582-39171582 T>C_SFSCPQPQTVPVAFLSSRSYLALPG
1:1564667-1564667 T>-	1.0	4213	COLON	-	-	-	-	MIB2	ENST00000487053,p.L800fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000487053	frameshift deletion	exon17	c.2399delT	p.L800fs	LDLAAEGRVLKALQGCAQRFRERQA	LDLAAEGRVLKALRAAPSASGSGRRAGAA	9.0	8.0	unscreened	-	4213_1:1564667-1564667 T>-_LDLAAEGRVLKALRAAPSASGSGRRAGAA
1:1564667-1564667 T>-	1.0	4213	COLON	-	-	-	-	MIB2	ENST00000518681,p.L836fs|uc001agg.3,p.L901fs|ENST00000357210,p.L844fs|ENST00000355826,p.L887fs|NM_001170687,p.L887fs|uc001agn.3,p.L476fs|ENST00000505820,p.L901fs|NM_080875,p.L901fs|ENST00000520777,p.L897fs|ENST00000378708,p.L750fs|ENST00000483015,p.L163fs|uc010nyq.2,p.L800fs|ENST00000504599,p.L800fs|uc001agi.3,p.L897fs|ENST00000378710,p.L808fs|uc001agl.2,p.L800fs|uc001agh.3,p.L887fs|ENST00000360522,p.L809fs|uc001agk.3,p.L836fs|uc001agj.3,p.L685fs|uc009vkh.3,p.L650fs|NM_001170688,p.L836fs|NM_001170686,p.L897fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010nyq.2	frameshift deletion	exon16	c.2399delT	p.L800fs	LDLAAEGRVLKALQGCAQRFRERQA	LDLAAEGRVLKALRAAPSASGSGRRAGARPRAPGKRSGPPTP	9.0	8.0	-	-	4213_1:1564667-1564667 T>-_LDLAAEGRVLKALRAAPSASGSGRRAGARPRAPGKRSGPPTP
11:59992499-59992499 C>T	0.0	4213	COLON	-	-	-	-	MS4A6A,MS4A4A	ENST00000427611,p.S58N|uc001noy.2,p.S71N|ENST00000398984,p.S71N|ENST00000528394,p.S71N	protein_coding, nonsense_mediated_decay	uc001noy.2	nonsynonymous SNV	exon2	c.G212A	p.S71N	LSMGIIMMCVAFSSYEEHPIFVYVA	LSMGIIMMCVAFNSYEEHPIFVYVA	5.0	2.0	-	-	4213_11:59992499-59992499 C>T_LSMGIIMMCVAFNSYEEHPIFVYVA
2:109473351-109473351 A>C	1.0	4213	COLON	-	-	-	-	CCDC138	uc002tep.1,p.S224R|uc010fjm.1,p.S224R|NM_144978,p.S540R|uc002ten.1,p.S540R|uc002teo.1,p.S540R|ENST00000295124,p.S540R|ENST00000412964,p.S540R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010fjm.1	nonsynonymous SNV	exon13	c.A670C	p.S224R	LFLEYQAVPVILSHLRISSKGLLSN	LFLEYQAVPVILRHLRISSKGLLSN	7.0	1.0	unscreened	-	4213_2:109473351-109473351 A>C_LFLEYQAVPVILRHLRISSKGLLSN
20:5294762-5294762 C>T	0.0	4213	COLON	-	-	-	-	PROKR2	ENST00000217270,p.R85H|uc010zqx.2,p.R85H|uc010zqy.2,p.R85H|ENST00000546004,p.R85H|NM_144773,p.R85H|uc010zqw.2,p.R85H	protein_coding	uc010zqy.2	nonsynonymous SNV	exon2	c.G254A	p.R85H	VFIAALTRYKKLRNLTNLLIANLAI	VFIAALTRYKKLHNLTNLLIANLAI	1.0	10.0	-	-	4213_20:5294762-5294762 C>T_VFIAALTRYKKLHNLTNLLIANLAI
13:58207990-58207990 A>T	0.0	4213	COLON	-	-	-	-	PCDH17	ENST00000484979,p.E437V|NM_001040429,p.E437V|ENST00000377918,p.E437V|uc001vhq.1,p.E437V|uc010aec.1,p.E437V	protein_coding, nonsense_mediated_decay	uc010aec.1	nonsynonymous SNV	exon1	c.A1310T	p.E437V	VTDRPLDRETQDEYNVTIVARDGGS	VTDRPLDRETQDVYNVTIVARDGGS	8.0	3.0	-	-	4213_13:58207990-58207990 A>T_VTDRPLDRETQDVYNVTIVARDGGS
11:8122062-8122062 T>G	0.0	4213	COLON	-	-	-	-	TUB	uc001mga.3,p.L377V|ENST00000299506,p.L377V|uc010rbk.2,p.L383V|uc001mfy.3,p.L432V|ENST00000305253,p.L432V|NM_177972,p.L377V|ENST00000534099,p.L383V|NM_003320,p.L432V	protein_coding	uc010rbk.2	nonsynonymous SNV	exon10	c.T1147G	p.L383V	QELAAVCYETNVLGFKGPRKMSVIV	QELAAVCYETNVVGFKGPRKMSVIV	5.0	1.0	unscreened	-	4213_11:8122062-8122062 T>G_QELAAVCYETNVVGFKGPRKMSVIV
5:3596480-3596480 C>A	0.0	4213	COLON	-	-	-	-	IRX1	uc003jde.3,p.S87R|ENST00000302006,p.S87R|NM_024337,p.S87R	protein_coding	uc003jde.3	nonsynonymous SNV	exon1	c.C261A	p.S87R	NYSAFLPYAADLSLFSQMGSQYELK	NYSAFLPYAADLRLFSQMGSQYELK	4.0	7.0	-	-	4213_5:3596480-3596480 C>A_NYSAFLPYAADLRLFSQMGSQYELK
11:55541368-55541368 C>T	0.0	4213	COLON	-	-	-	-	OR5D13	uc010ril.2,p.T152I|NM_001001967,p.T152I|ENST00000361760,p.T152I	protein_coding	uc010ril.2	nonsynonymous SNV	exon1	c.C455T	p.T152I	QKLCALLVAGSYTWGIVCSLILTYF	QKLCALLVAGSYIWGIVCSLILTYF	1.0	2.0	unscreened	-	4213_11:55541368-55541368 C>T_QKLCALLVAGSYIWGIVCSLILTYF
11:18158850-18158850 C>T	0.0	4213	COLON	-	-	ID=COSM428778;OCCURENCE=1(breast)	-	MRGPRX3	ENST00000531264,p.T34M|NM_054031,p.T34M|ENST00000396275,p.T34M|uc021qek.1,p.T34M|uc001mnu.3,p.T34M	protein_coding	uc021qek.1	nonsynonymous SNV	exon1	c.C101T	p.T34M	PCYKQTLSFTGLTCIVSLVALTGNA	PCYKQTLSFTGLMCIVSLVALTGNA	1.0	9.0	-	-	4213_11:18158850-18158850 C>T_PCYKQTLSFTGLMCIVSLVALTGNA
5:41008813-41008813 T>G	0.0	4213	COLON	-	-	-	-	MROH2B	NM_173489,p.K1168T|ENST00000399564,p.K1168T|uc003jmi.4,p.K723T|uc003jmj.4,p.K1168T|ENST00000506092,p.K723T	retained_intron, protein_coding	uc003jmj.4	nonsynonymous SNV	exon33	c.A3503C	p.K1168T	TGLYPELFTLLLKLVSCTLGQKMLT	TGLYPELFTLLLTLVSCTLGQKMLT	1.0	1.0	unscreened	-	4213_5:41008813-41008813 T>G_TGLYPELFTLLLTLVSCTLGQKMLT
19:13216361-13216361 A>C	1.0	4213	COLON	-	-	-	-	TRMT1	uc010xmy.1,p.L152R|ENST00000357720,p.L548R|NM_017722,p.L548R|ENST00000221504,p.L519R|NM_001142554,p.L519R|ENST00000592062,p.L548R|uc002mwk.2,p.L519R|uc002mwl.3,p.L548R|ENST00000437766,p.L548R|uc010xmz.1,p.L334R|NM_001136035,p.L548R|uc002mwj.2,p.L548R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xmz.1	nonsynonymous SNV	exon15	c.T1001G	p.L334R	REDANPSSRQRGLKRFQANPEANWG	REDANPSSRQRGRKRFQANPEANWG	9.0	7.0	-	-	4213_19:13216361-13216361 A>C_REDANPSSRQRGRKRFQANPEANWG
3:42741254-42741254 T>G	0.0	4213	COLON	-	-	-	-	HHATL	ENST00000310417,p.K57T|uc003clw.3,p.K57T|ENST00000457462,p.K57T|ENST00000416756,p.K57T|ENST00000417472,p.K57T|ENST00000442469,p.K57T|uc003clx.3,p.K57T|NM_020707,p.K57T|ENST00000441594,p.K57T|ENST00000455195,p.K57T	retained_intron, protein_coding	uc003clx.3	nonsynonymous SNV	exon3	c.A170C	p.K57T	ESVRPGWEYIGRKMDVADFEWVMWF	ESVRPGWEYIGRTMDVADFEWVMWF	3.0	6.0	-	-	4213_3:42741254-42741254 T>G_ESVRPGWEYIGRTMDVADFEWVMWF
7:48390282-48390282 G>A	1.0	4213	COLON	-	-	-	-	ABCA13	uc010kys.2,p.R1097H|uc031sxh.1,p.R1097H|uc003tos.1,p.R242H|uc003toq.2,p.R3416H|uc031sxg.1,p.R1097H|NM_152701,p.R3416H|ENST00000435803,p.R3416H	retained_intron, protein_coding, nonsense_mediated_decay	uc031sxh.1	nonsynonymous SNV	exon13	c.G3290A	p.R1097H	LLDEMFNHAGAGRFRFLGSILVNLS	LLDEMFNHAGAGHFRFLGSILVNLS	5.0	10.0	-	-	4213_7:48390282-48390282 G>A_LLDEMFNHAGAGHFRFLGSILVNLS
7:42004379-42004379 G>A	0.0	4213	COLON	-	-	-	-	GLI3	ENST00000395925,p.P1431L|NM_000168,p.P1431L|uc011kbh.2,p.P1431L|uc011kbg.2,p.P1372L	retained_intron, protein_coding, processed_transcript	uc011kbh.2	nonsynonymous SNV	exon15	c.C4292T	p.P1431L	NGIKMEMKGQPHPLCSNLQNYSGQF	NGIKMEMKGQPHLLCSNLQNYSGQF	6.0	4.0	-	-	4213_7:42004379-42004379 G>A_NGIKMEMKGQPHLLCSNLQNYSGQF
8:106813841-106813841 C>T	0.0	4213	COLON	-	-	-	-	ZFPM2	uc003ymd.3,p.P511S|ENST00000517361,p.P379S|ENST00000378472,p.P242S|NM_012082,p.P511S|uc011lhs.2,p.P242S|ENST00000520492,p.P379S|ENST00000407775,p.P511S	protein_coding, processed_transcript	uc011lhs.2	nonsynonymous SNV	exon6	c.C724T	p.P242S	SQFSFPQDITMVPQASEILAKMSEL	SQFSFPQDITMVSQASEILAKMSEL	6.0	3.0	-	-	4213_8:106813841-106813841 C>T_SQFSFPQDITMVSQASEILAKMSEL
11:102248442-102248442 C>G	1.0	4213	COLON	-	-	-	-	BIRC2	NM_001256163,p.L528V|NM_001256166,p.L479V|uc001pgy.4,p.L528V|NM_001166,p.L528V|ENST00000530675,p.L479V|uc010rur.3,p.L528V|uc010ruq.3,p.L479V|ENST00000227758,p.L528V|ENST00000532672,p.L507V|ENST00000531259,p.L63V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rur.3	nonsynonymous SNV	exon7	c.C1582G	p.L528V	KGNAAANIFKNCLKEIDSTLYKNLF	KGNAAANIFKNCVKEIDSTLYKNLF	9.0	9.0	-	-	4213_11:102248442-102248442 C>G_KGNAAANIFKNCVKEIDSTLYKNLF
22:25623887-25623887 C>T	0.0	4213	COLON	0.0005	-	-	-	CRYBB2	NM_000496,p.R81C|uc003abp.1,p.R81C|ENST00000398215,p.R81C	protein_coding	uc003abp.1	nonsynonymous SNV	exon4	c.C241T	p.R81C	GEQFVFEKGEYPRWDSWTSSRRTDS	GEQFVFEKGEYPCWDSWTSSRRTDS	5.0	10.0	-	-	4213_22:25623887-25623887 C>T_GEQFVFEKGEYPCWDSWTSSRRTDS
5:39202745-39202745 T>G	0.0	4213	COLON	-	-	-	-	FYB	ENST00000505428,p.K106N|NM_001243093,p.K116N|NM_001465,p.K106N|ENST00000540520,p.K116N|uc003jls.3,p.K106N|ENST00000512982,p.K106N|uc003jlt.3,p.K106N|NM_199335,p.K106N|ENST00000351578,p.K106N|uc003jlu.3,p.K106N|ENST00000515010,p.K106N|ENST00000510188,p.K106N|uc011cpl.2,p.K116N	protein_coding, processed_transcript	uc011cpl.2	nonsynonymous SNV	exon2	c.A348C	p.K116N	TPASLTTRDPEAKVGFLKPVGPKPI	TPASLTTRDPEANVGFLKPVGPKPI	9.0	4.0	-	-	4213_5:39202745-39202745 T>G_TPASLTTRDPEANVGFLKPVGPKPI
6:147830435-147830435 G>A	1.0	4213	COLON	-	-	-	-	SAMD5	ENST00000367474,p.S124N|uc003qmc.2,p.S124N|ENST00000566741,p.S25N|NM_001030060,p.S124N	protein_coding	uc003qmc.2	nonsynonymous SNV	exon1	c.G371A	p.S124N	GHTTAPRSRELVSYPKLKLKIMIRD	GHTTAPRSRELVNYPKLKLKIMIRD	7.0	4.0	-	-	4213_6:147830435-147830435 G>A_GHTTAPRSRELVNYPKLKLKIMIRD
11:66457400-66457400 G>A	1.0	4213	COLON	-	-	ID=COSM1509607;OCCURENCE=1(lung)	-	SPTBN2	uc001ojd.3,p.A1942V|ENST00000533211,p.A1942V|NM_006946,p.A1942V|ENST00000529997,p.A1942V|ENST00000309996,p.A1942V	retained_intron, protein_coding	uc001ojd.3	nonsynonymous SNV	exon28	c.C5825T	p.A1942V	MDAQERPRDVSSADLVIKNQQGIKA	MDAQERPRDVSSVDLVIKNQQGIKA	7.0	5.0	-	-	4213_11:66457400-66457400 G>A_MDAQERPRDVSSVDLVIKNQQGIKA
1:248525559-248525559 T>G	0.0	4213	COLON	-	-	-	-	OR2T4	NM_001004696,p.L226R|ENST00000366475,p.L226R|uc001ieh.1,p.L226R	protein_coding	uc001ieh.1	nonsynonymous SNV	exon1	c.T677G	p.L226R	PAVLNLSCSDTSLYEIFMYLCCVLM	PAVLNLSCSDTSRYEIFMYLCCVLM	1.0	5.0	-	-	4213_1:248525559-248525559 T>G_PAVLNLSCSDTSRYEIFMYLCCVLM
19:9324747-9324747 A>G	0.0	4213	COLON	-	-	-	-	OR7D4	ENST00000308682,p.L256P|NM_001005191,p.L256P|uc002mla.2,p.L256P	protein_coding	uc002mla.2	nonsynonymous SNV	exon1	c.T767C	p.L256P	HLCVVSLFYGTGLGVYLSSAVTHSS	HLCVVSLFYGTGPGVYLSSAVTHSS	1.0	2.0	unscreened	-	4213_19:9324747-9324747 A>G_HLCVVSLFYGTGPGVYLSSAVTHSS
11:117314707-117314707 C>T	0.0	4213	COLON	-	-	-	-	DSCAML1	NM_020693,p.A1313T|uc001prh.1,p.A1313T|ENST00000321322,p.A1313T|ENST00000527706,p.A1043T	protein_coding	uc001prh.1	nonsynonymous SNV	exon21	c.G3937A	p.A1313T	YETSPEQLFYRIAHLNRGQQYLLWV	YETSPEQLFYRITHLNRGQQYLLWV	3.0	9.0	-	-	4213_11:117314707-117314707 C>T_YETSPEQLFYRITHLNRGQQYLLWV
6:16328213-16328213 T>C	1.0	4213	COLON	-	-	-	-	ATXN1	NM_000332,p.Q110R|NM_001128164,p.Q110R|uc010jpi.3,p.Q110R|uc003nbt.3,p.Q110R|ENST00000436367,p.Q110R|ENST00000244769,p.Q110R	protein_coding, processed_transcript	uc010jpi.3	nonsynonymous SNV	exon7	c.A329G	p.Q110R	VATTLPAAYATPQPGTPVSPVQYAH	VATTLPAAYATPRPGTPVSPVQYAH	8.0	2.0	unscreened	-	4213_6:16328213-16328213 T>C_VATTLPAAYATPRPGTPVSPVQYAH
7:127991332-127991332 C>T	0.0	4213	COLON	-	-	-	-	PRRT4	uc022akx.1,p.R415Q|ENST00000489835,p.R415Q|NM_001114726,p.R415Q	protein_coding	uc022akx.1	nonsynonymous SNV	exon6	c.G1244A	p.R415Q	PGPCLRGRSAWARTLPHRLAGDRGQ	PGPCLRGRSAWAQTLPHRLAGDRGQ	2.0	9.0	-	-	4213_7:127991332-127991332 C>T_PGPCLRGRSAWAQTLPHRLAGDRGQ
19:52538212-52538212 T>G	1.0	4213	COLON	-	-	-	-	ZNF432	NM_014650,p.K240N|ENST00000594154,p.K240N|ENST00000221315,p.K240N|uc002pyk.3,p.K240N	protein_coding, processed_transcript	uc002pyk.3	nonsynonymous SNV	exon5	c.A720C	p.K240N	TGEKPYGCTLCAKVFSRKSRLNEHQ	TGEKPYGCTLCANVFSRKSRLNEHQ	8.0	1.0	unscreened	-	4213_19:52538212-52538212 T>G_TGEKPYGCTLCANVFSRKSRLNEHQ
1:159284044-159284044 T>A	0.0	4213	COLON	-	-	-	-	OR10J3	NM_001004467,p.I136F|uc010piu.2,p.I136F|ENST00000332217,p.I136F	protein_coding	uc010piu.2	nonsynonymous SNV	exon1	c.A406T	p.I136F	YVAICNPLRYSVIMGKRACIQLASG	YVAICNPLRYSVFMGKRACIQLASG	1.0	7.0	unscreened	-	4213_1:159284044-159284044 T>A_YVAICNPLRYSVFMGKRACIQLASG
15:51634197-51634197 G>A	0.0	4213	COLON	-	-	-	-	GLDN	ENST00000335449,p.A106T|NM_181789,p.A106T|uc010bez.1,p.A106T|uc002aba.3,p.A106T	retained_intron, protein_coding	uc010bez.1	nonsynonymous SNV	exon1	c.G316A	p.A106T	RSHSGEPAPHIRAESHDMLMMMTYS	RSHSGEPAPHIRTESHDMLMMMTYS	6.0	2.0	unscreened	-	4213_15:51634197-51634197 G>A_RSHSGEPAPHIRTESHDMLMMMTYS
20:44258475-44258475 C>T	0.0	4213	COLON	-	-	-	-	WFDC10A	NM_080753,p.P8L|ENST00000372643,p.P8L|uc002xoz.3,p.P8L	protein_coding	uc002xoz.3	nonsynonymous SNV	exon1	c.C23T	p.P8L	MAPQTLLPVLVLCVLLLQAQ	MAPQTLLLVLVLCVLLLQAQ	1.0	9.0	-	-	4213_20:44258475-44258475 C>T_MAPQTLLLVLVLCVLLLQAQ
X:114347835-114347835 C>G	0.0	4213	COLON	-	-	-	-	LRCH2	ENST00000317135,p.V748L|NM_001243963,p.V731L|uc010nqe.3,p.V748L|NM_020871,p.V748L|uc004epz.3,p.V731L|ENST00000538422,p.V731L	protein_coding	uc010nqe.3	nonsynonymous SNV	exon21	c.G2242C	p.V748L	LEERGLVKVGVTVQALLELPTTKAS	LEERGLVKVGVTLQALLELPTTKAS	5.0	7.0	-	-	4213_X:114347835-114347835 C>G_LEERGLVKVGVTLQALLELPTTKAS
2:88285259-88285259 G>T	0.0	4213	COLON	-	-	-	-	RGPD1	uc021vkn.1,p.A12E|NM_001024457,p.A12E|ENST00000420840,p.A12E	protein_coding, processed_transcript	uc021vkn.1	nonsynonymous SNV	exon1	c.C35A	p.A12E	MNVMGFNTDRLAWTRNKLRGFYFA	MNVMGFNTDRLEWTRNKLRGFYFA	6.0	3.0	-	-	4213_2:88285259-88285259 G>T_MNVMGFNTDRLEWTRNKLRGFYFA
13:51819464-51819464 G>C	0.0	4213	COLON	-	-	-	-	FAM124A	uc001vff.2,p.W39C|ENST00000280057,p.W39C|NM_145019,p.W39C	protein_coding, processed_transcript	uc001vff.2	nonsynonymous SNV	exon3	c.G117C	p.W39C	SHLSSTSNGFSTWRMPCCLFLYCTH	SHLSSTSNGFSTCRMPCCLFLYCTH	5.0	8.0	-	-	4213_13:51819464-51819464 G>C_SHLSSTSNGFSTCRMPCCLFLYCTH
3:135720467-135720467 G>C	0.0	4213	COLON	-	-	-	-	PPP2R3A	NM_002718,p.D43H|uc003eqv.2,p.D43H|ENST00000264977,p.D43H	protein_coding, processed_transcript, nonsense_mediated_decay	uc003eqv.2	nonsynonymous SNV	exon2	c.G127C	p.D43H	CTGTCHTFTHGIDCIVVHHSVCADL	CTGTCHTFTHGIHCIVVHHSVCADL	6.0	6.0	-	-	4213_3:135720467-135720467 G>C_CTGTCHTFTHGIHCIVVHHSVCADL
1:39812739-39812739 T>G	0.0	4213	COLON	-	-	-	-	MACF1	ENST00000289893,p.L1998V|uc031pmd.1,p.L1998V|ENST00000372915,p.L3563V|ENST00000564288,p.L3558V|ENST00000567887,p.L3595V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pmd.1	nonsynonymous SNV	exon5	c.T5992G	p.L1998V	DIQFFISEHAQDLSPQQNRQMLRLL	DIQFFISEHAQDVSPQQNRQMLRLL	10.0	5.0	unscreened	-	4213_1:39812739-39812739 T>G_DIQFFISEHAQDVSPQQNRQMLRLL
3:179131277-179131277 A>G	1.0	4213	COLON	-	-	-	-	GNB4	ENST00000232564,p.S208P|uc003fjv.4,p.S208P|ENST00000468623,p.S208P|NM_021629,p.S208P|uc003fju.4,p.S119P	protein_coding, processed_transcript	uc003fjv.4	nonsynonymous SNV	exon8	c.T622C	p.S208P	MRTFVSGACDASSKLWDIRDGMCRQ	MRTFVSGACDASPKLWDIRDGMCRQ	8.0	8.0	-	-	4213_3:179131277-179131277 A>G_MRTFVSGACDASPKLWDIRDGMCRQ
10:112054996-112054996 T>C	1.0	4213	COLON	-	-	-	-	SMNDC1	NM_005871,p.K190R|ENST00000369592,p.K190R|uc001kzc.4,p.K190R|ENST00000369603,p.K190R	protein_coding, processed_transcript	uc001kzc.4	nonsynonymous SNV	exon5	c.A569G	p.K190R	WQQFNNRAYSKNKKGQVKRSIFASP	WQQFNNRAYSKNRKGQVKRSIFASP	8.0	6.0	-	-	4213_10:112054996-112054996 T>C_WQQFNNRAYSKNRKGQVKRSIFASP
1:206681389-206681389 A>T	1.0	4213	COLON	-	-	-	-	RASSF5	ENST00000355294,p.T152S|uc001hee.3,p.T152S|NM_182663,p.T152S|uc001hec.1,p.T152S|ENST00000338603,p.T152S|uc001hed.3,p.T152S|ENST00000367117,p.T152S|NM_182664,p.T152S	protein_coding, processed_transcript	uc001hee.3	nonsynonymous SNV	exon1	c.A454T	p.T152S	CGREVLRQALRCTNCKFTCHPECRS	CGREVLRQALRCSNCKFTCHPECRS	9.0	8.0	-	-	4213_1:206681389-206681389 A>T_CGREVLRQALRCSNCKFTCHPECRS
15:39880889-39880889 A>T	0.0	4213	COLON	-	-	-	-	THBS1	NM_003246,p.D545V|uc001zkh.3,p.D545V|ENST00000260356,p.D545V	retained_intron, protein_coding	uc001zkh.3	nonsynonymous SNV	exon10	c.A1634T	p.D545V	GDVTENQICNKQDCPIDGCLSNPCF	GDVTENQICNKQVCPIDGCLSNPCF	10.0	2.0	unscreened	-	4213_15:39880889-39880889 A>T_GDVTENQICNKQVCPIDGCLSNPCF
4:162463693-162463693 T>A	0.0	4213	COLON	-	-	-	-	FSTL5	uc003iqh.4,p.T390S|NM_001128428,p.T389S|uc003iqi.4,p.T389S|ENST00000536695,p.T389S|ENST00000427802,p.T389S|ENST00000379164,p.T389S|ENST00000306100,p.T390S|uc010iqv.4,p.T389S|NM_001128427,p.T389S|NM_020116,p.T390S	protein_coding, processed_transcript	uc010iqv.4	nonsynonymous SNV	exon9	c.A1165T	p.T389S	GIDITPKLSKQLTLQANGSEVHISN	GIDITPKLSKQLSLQANGSEVHISN	1.0	1.0	unscreened	-	4213_4:162463693-162463693 T>A_GIDITPKLSKQLSLQANGSEVHISN
7:13978792-13978792 T>G	1.0	4213	COLON	-	-	-	1	ETV1	NM_001163148,p.Q87H|ENST00000242066,p.Q87H|uc021zzt.1,p.Q65H|ENST00000443608,p.Q65H|ENST00000399357,p.Q65H|NM_004956,p.Q105H|ENST00000443137,p.Q105H|NM_001163147,p.Q105H|uc022aad.1,p.Q87H|NM_001163151,p.Q47H|uc022aac.1,p.Q87H|ENST00000343495,p.Q87H|uc021zzy.1,p.Q47H|uc021zzu.1,p.Q65H|uc021zzw.1,p.Q65H|NM_001163152,p.Q65H|ENST00000420159,p.Q47H|uc021zzz.1,p.Q105H|uc021zzv.1,p.Q47H|ENST00000405358,p.Q119H|ENST00000403527,p.Q65H|uc022aaa.1,p.Q87H|ENST00000405192,p.Q105H|NM_001163149,p.Q87H|ENST00000405218,p.Q105H|uc003ssw.4,p.Q105H|uc021zzx.1,p.Q65H|ENST00000438956,p.Q47H|ENST00000421381,p.Q105H|ENST00000403685,p.Q87H|NM_001163150,p.Q65H|uc022aab.1,p.Q105H|ENST00000430479,p.Q105H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022aad.1	nonsynonymous SNV	exon6	c.A261C	p.Q87H	HSPCSEISSACSQEQPFKFSYGEKC	HSPCSEISSACSHEQPFKFSYGEKC	8.0	4.0	-	-	4213_7:13978792-13978792 T>G_HSPCSEISSACSHEQPFKFSYGEKC
8:19277976-19277976 C>T	1.0	4213	COLON	-	-	-	-	CSGALNACT1	ENST00000522854,p.R336Q|ENST00000454498,p.R336Q|ENST00000311540,p.R336Q|NM_001130518,p.R336Q|NM_018371,p.R336Q|ENST00000332246,p.R336Q|ENST00000544602,p.R336Q|uc011kyp.2,p.R336Q|uc011kyn.2,p.R336Q|uc011kyo.2,p.R336Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc011kyp.2	nonsynonymous SNV	exon6	c.G1007A	p.R336Q	NFTFIQLNGEFSRGKGLDVGARFWK	NFTFIQLNGEFSQGKGLDVGARFWK	8.0	7.0	-	-	4213_8:19277976-19277976 C>T_NFTFIQLNGEFSQGKGLDVGARFWK
15:39880871-39880882 AGATCTGCAACA>-	0.0	4213	COLON	-	-	-	-	THBS1	ENST00000260356,p.539_543del|NM_003246,p.539_543del|uc001zkh.3,p.539_543del	retained_intron, protein_coding	uc001zkh.3	nonframeshift deletion	exon10	c.1616_1627del	p.539_543del	GGKDCVGDVTENQICNKQDCPIDGC	GGKDCVGDVTENQQDCPIDGCLSNP	10.0	4.0	unscreened	-	4213_15:39880871-39880882 AGATCTGCAACA>-_GGKDCVGDVTENQQDCPIDGCLSNP
11:67433124-67433124 T>G	0.0	4213	COLON	-	-	-	-	ALDH3B2	ENST00000530069,p.K113T|uc001oms.3,p.K113T|ENST00000349015,p.K113T|uc001omr.3,p.K113T|uc009ysa.1,p.K113T|NM_000695,p.K113T|ENST00000525827,p.K113T|NM_001031615,p.K113T	retained_intron, protein_coding, processed_transcript	uc009ysa.1	nonsynonymous SNV	exon7	c.A338C	p.K113T	DYIFFTGSPRVGKIVMTAATKHLTP	DYIFFTGSPRVGTIVMTAATKHLTP	4.0	2.0	unscreened	-	4213_11:67433124-67433124 T>G_DYIFFTGSPRVGTIVMTAATKHLTP
11:31149120-31149120 C>G	0.0	4213	COLON	-	-	-	-	DCDC5,DCDC1	uc001msu.2,p.G80R|ENST00000597505,p.G461R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001msu.2	nonsynonymous SNV	exon11	c.G238C	p.G80R	AIKSNIGHLCKLGPQLQAEQEQFSS	AIKSNIGHLCKLRPQLQAEQEQFSS	3.0	1.0	unscreened	-	4213_11:31149120-31149120 C>G_AIKSNIGHLCKLRPQLQAEQEQFSS
6:65301613-65301613 A>C	0.0	4213	COLON	-	-	-	-	EYS	NM_001292009,p.F1383V|uc011dxu.1,p.F1383V|uc011dxt.1,p.F295V|ENST00000370621,p.F1383V|NM_001142800,p.F1383V|ENST00000370616,p.F1383V|ENST00000503581,p.F1383V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxu.1	nonsynonymous SNV	exon26	c.T4147G	p.F1383V	MPIRTSAATLGFFFPDRRARTPFIM	MPIRTSAATLGFVFPDRRARTPFIM	4.0	2.0	unscreened	-	4213_6:65301613-65301613 A>C_MPIRTSAATLGFVFPDRRARTPFIM
2:80529464-80529464 G>C	0.0	4213	COLON	-	-	-	-	LRRTM1	uc002sok.1,p.P494R|ENST00000433224,p.P494R|ENST00000295057,p.P494R|ENST00000409148,p.P494R|ENST00000417012,p.P494R|uc021vjt.1,p.P494R|NM_178839,p.P494R	protein_coding, nonsense_mediated_decay	uc021vjt.1	nonsynonymous SNV	exon1	c.C1481G	p.P494R	AMSAQEYYVDYKPNHIEGALVIINE	AMSAQEYYVDYKRNHIEGALVIINE	3.0	3.0	-	-	4213_2:80529464-80529464 G>C_AMSAQEYYVDYKRNHIEGALVIINE
7:100686642-100686642 C>G	1.0	4213	COLON	-	-	-	-	MUC17	NM_001040105,p.T3982S|ENST00000379439,p.T3982S|uc003uxp.1,p.T3982S|ENST00000306151,p.T3982S	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.C11945G	p.T3982S	ELNTPSTSSSSTTTSFSTTKEFTTP	ELNTPSTSSSSTSTSFSTTKEFTTP	6.0	2.0	-	-	4213_7:100686642-100686642 C>G_ELNTPSTSSSSTSTSFSTTKEFTTP
11:1095665-1095665 A>T	0.0	4213	COLON	-	-	-	-	MUC2	ENST00000361558,p.E197V|ENST00000441003,p.E2059V	protein_coding	ENST00000441003	nonsynonymous SNV	exon33	c.A6176T	p.E2059V	PPECPDFDPPRQENETWWLCDCFMA	PPECPDFDPPRQVNETWWLCDCFMA	3.0	1.0	unscreened	-	4213_11:1095665-1095665 A>T_PPECPDFDPPRQVNETWWLCDCFMA
17:26919069-26919069 G>T	1.0	4213	COLON	-	-	-	-	SPAG5	NM_006461,p.T398K|ENST00000321765,p.T398K|uc002hbq.3,p.T398K	protein_coding, nonsense_mediated_decay	uc002hbq.3	nonsynonymous SNV	exon3	c.C1193A	p.T398K	TWFTPSAPQEKSTNTSQTGLVGTKH	TWFTPSAPQEKSKNTSQTGLVGTKH	7.0	10.0	unscreened	-	4213_17:26919069-26919069 G>T_TWFTPSAPQEKSKNTSQTGLVGTKH
X:71350334-71350334 G>A	1.0	4213	COLON	-	-	-	-	RGAG4	ENST00000545866,p.R353C|ENST00000479991,p.R353C|NM_001024455,p.R353C|uc004eaj.2,p.R353C|uc010nlh.2,p.R353C	protein_coding	uc010nlh.2	nonsynonymous SNV	exon1	c.C1057T	p.R353C	EEYYSEDEDQEARRHRLHSKDQRKR	EEYYSEDEDQEACRHRLHSKDQRKR	6.0	10.0	unscreened	-	4213_X:71350334-71350334 G>A_EEYYSEDEDQEACRHRLHSKDQRKR
3:195512494-195512494 G>T	0.0	4213	COLON	-	-	-	2	MUC4	ENST00000477756,p.P1986H|ENST00000466475,p.P1986H|NM_018406,p.P1986H|ENST00000480843,p.P1986H|ENST00000463781,p.P1986H|ENST00000470451,p.P1986H|ENST00000477086,p.P1986H|ENST00000462323,p.P1986H|ENST00000478156,p.P1986H|ENST00000479406,p.P1986H|ENST00000475231,p.P1986H|uc021xjp.1,p.P1986H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C5957A	p.P1986H	ASSVSTGHATPLPVTDASSVSTGHA	ASSVSTGHATPLHVTDASSVSTGHA	6.0	5.0	-	-	4213_3:195512494-195512494 G>T_ASSVSTGHATPLHVTDASSVSTGHA
12:76425286-76425286 A>C	1.0	4213	COLON	-	-	-	-	PHLDA1	NM_007350,p.L79R|ENST00000266671,p.L79R|uc021rax.1,p.L79R|uc001sxu.3,p.L79R	protein_coding	uc021rax.1	nonsynonymous SNV	exon1	c.T236G	p.L79R	SGTLWRIRTRLSLCRDPEPPPPLCL	SGTLWRIRTRLSRCRDPEPPPPLCL	8.0	8.0	-	-	4213_12:76425286-76425286 A>C_SGTLWRIRTRLSRCRDPEPPPPLCL
2:71017739-71017739 C>T	0.0	4213	COLON	-	-	-	-	FIGLA	NM_001004311,p.R11H|ENST00000332372,p.R11H|uc002she.1,p.R11H	protein_coding	uc002she.1	nonsynonymous SNV	exon1	c.G32A	p.R11H	MDPAPGVLDPRAAPPALLGTPQA	MDPAPGVLDPHAAPPALLGTPQA	3.0	8.0	-	-	4213_2:71017739-71017739 C>T_MDPAPGVLDPHAAPPALLGTPQA
6:17115262-17115262 A>G	0.0	4213	COLON	-	-	-	-	STMND1	NM_001190766,p.T51A|ENST00000536551,p.T51A|uc021ymc.1,p.T51A|ENST00000354384,p.T43A	retained_intron, protein_coding	uc021ymc.1	nonsynonymous SNV	exon2	c.A151G	p.T51A	CSPRMEAALTKNTVDIAEGLEQVQM	CSPRMEAALTKNAVDIAEGLEQVQM	4.0	1.0	unscreened	-	4213_6:17115262-17115262 A>G_CSPRMEAALTKNAVDIAEGLEQVQM
1:207134551-207134551 G>A	1.0	4213	COLON	-	-	-	-	FCAMR	uc021pig.1,p.P139S|ENST00000324852,p.P224S|uc001hfa.4,p.P224S|NM_001170631,p.P224S	protein_coding, processed_transcript, nonsense_mediated_decay	uc021pig.1	nonsynonymous SNV	exon3	c.C415T	p.P139S	NLTISAGPASTLPTATPAAGELTMR	NLTISAGPASTLSTATPAAGELTMR	4.0	1.0	unscreened	-	4213_1:207134551-207134551 G>A_NLTISAGPASTLSTATPAAGELTMR
1:215408442-215408442 C>T	0.0	4213	COLON	-	-	ID=COSM3934466,COSM3934465;OCCURENCE=1(oesophagus)	-	KCNK2	NM_001017425,p.P412L|uc001hkr.4,p.P397L|uc001hkq.3,p.P412L|NM_014217,p.P397L|ENST00000444842,p.P412L|NM_001017424,p.P408L|ENST00000391895,p.P408L|uc001hko.3,p.P408L|ENST00000391894,p.P397L	protein_coding, nonsense_mediated_decay	uc001hkr.4	nonsynonymous SNV	exon7	c.C1190T	p.P397L	LKTESIYLNGLTPHCAGEEIAVIEN	LKTESIYLNGLTLHCAGEEIAVIEN	3.0	7.0	-	-	4213_1:215408442-215408442 C>T_LKTESIYLNGLTLHCAGEEIAVIEN
X:54784085-54784085 A>C	0.0	4213	COLON	-	-	-	-	ITIH6	uc004dtj.2,p.S808A|NM_198510,p.S808A|ENST00000218436,p.S808A	protein_coding, processed_transcript	uc004dtj.2	nonsynonymous SNV	exon8	c.T2422G	p.S808A	ALTSQAPKGLPQSRPGVSTLQVPKY	ALTSQAPKGLPQARPGVSTLQVPKY	3.0	4.0	-	-	4213_X:54784085-54784085 A>C_ALTSQAPKGLPQARPGVSTLQVPKY
9:139277745-139277745 T>C	1.0	4213	COLON	-	-	-	-	SNAPC4	ENST00000298532,p.S626G|NM_003086,p.S626G|uc004chh.3,p.S626G	protein_coding	uc004chh.3	nonsynonymous SNV	exon15	c.A1876G	p.S626G	ASTTAAAPGEETSPVQVPARAHGPV	ASTTAAAPGEETGPVQVPARAHGPV	7.0	2.0	unscreened	-	4213_9:139277745-139277745 T>C_ASTTAAAPGEETGPVQVPARAHGPV
X:135439883-135439883 A>C	0.0	4213	COLON	-	-	-	-	GPR112	ENST00000412101,p.Q2111H|uc010nsb.1,p.Q2111H|ENST00000394143,p.Q2316H|uc004ezu.1,p.Q2316H|ENST00000370652,p.Q2316H|NM_153834,p.Q2316H|ENST00000394141,p.Q2111H	protein_coding	uc010nsb.1	nonsynonymous SNV	exon7	c.A6333C	p.Q2111H	VMDRAILEQREGQEMATISYVPYSC	VMDRAILEQREGHEMATISYVPYSC	2.0	1.0	unscreened	-	4213_X:135439883-135439883 A>C_VMDRAILEQREGHEMATISYVPYSC
19:6751177-6751177 C>T	1.0	4213	COLON	-	-	ID=COSM316179,COSM316178;OCCURENCE=1(lung)	-	TRIP10	ENST00000596758,p.A541V|NM_001288963,p.A541V|uc010dux.2,p.A541V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dux.2	nonsynonymous SNV	exon14	c.C1622T	p.A541V	GTAGPGSGGKREARATCPPPTSESR	GTAGPGSGGKREVRATCPPPTSESR	9.0	10.0	unscreened	-	4213_19:6751177-6751177 C>T_GTAGPGSGGKREVRATCPPPTSESR
11:31149122-31149122 A>T	0.0	4213	COLON	-	-	-	-	DCDC5,DCDC1	uc001msu.2,p.L79H|ENST00000597505,p.L460H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001msu.2	nonsynonymous SNV	exon11	c.T236A	p.L79H	TAIKSNIGHLCKLGPQLQAEQEQFS	TAIKSNIGHLCKHGPQLQAEQEQFS	3.0	1.0	unscreened	-	4213_11:31149122-31149122 A>T_TAIKSNIGHLCKHGPQLQAEQEQFS
10:127696992-127696992 C>G	1.0	4213	COLON	-	-	-	-	FANK1	ENST00000368695,p.T235S|NM_145235,p.T241S|uc009yan.3,p.T267S|ENST00000368691,p.T219S|uc001lji.3,p.T235S|uc001ljh.4,p.T241S|ENST00000368693,p.T241S	protein_coding, processed_transcript	uc009yan.3	nonsynonymous SNV	exon9	c.C800G	p.T267S	MIKDGCEVDVVDTGSGWTPLMRVSA	MIKDGCEVDVVDSGSGWTPLMRVSA	7.0	5.0	-	-	4213_10:127696992-127696992 C>G_MIKDGCEVDVVDSGSGWTPLMRVSA
19:6307240-6307240 G>C	0.0	4213	COLON	-	-	-	-	ACER1	uc002mel.2,p.L184V|NM_133492,p.L184V|ENST00000301452,p.L184V	protein_coding	uc002mel.2	nonsynonymous SNV	exon5	c.C550G	p.L184V	LIEVSVVLWAVALTSWISDRLLCSF	LIEVSVVLWAVAVTSWISDRLLCSF	2.0	7.0	-	-	4213_19:6307240-6307240 G>C_LIEVSVVLWAVAVTSWISDRLLCSF
2:179588802-179588802 T>A	0.0	4213	COLON	-	-	-	-	TTN	NM_133378,p.I5818F|uc031rqd.1,p.I6745F|uc031rqc.1,p.I7062F|NM_001267550,p.I7062F|NM_001256850,p.I6745F|ENST00000591111,p.I6745F|ENST00000342992,p.I5818F|uc021vsy.2,p.I5818F|ENST00000589042,p.I7062F|uc002umz.1,p.I2479F	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon71	c.A20233T	p.I6745F	LKNTGGVLGASCILECKVAGSSPIS	LKNTGGVLGASCFLECKVAGSSPIS	5.0	4.0	-	-	4213_2:179588802-179588802 T>A_LKNTGGVLGASCFLECKVAGSSPIS
6:38690710-38690710 C>T	0.0	4213	COLON	0.0014	-	-	-	DNAH8	ENST00000327475,p.P30L|NM_001206927,p.P42L|ENST00000373278,p.P42L|uc021yzh.1,p.P42L|ENST00000449981,p.P42L	protein_coding	uc021yzh.1	nonsynonymous SNV	exon2	c.C125T	p.P42L	EEEAPRPPTVEAPAEDGFSPSAEDA	EEEAPRPPTVEALAEDGFSPSAEDA	3.0	8.0	-	-	4213_6:38690710-38690710 C>T_EEEAPRPPTVEALAEDGFSPSAEDA
10:128114619-128114619 C>G	0.0	4213	COLON	-	-	-	-	C10orf90	ENST00000454341,p.E571Q|ENST00000356858,p.E621Q|uc001ljq.3,p.E668Q|NM_001004298,p.E668Q|ENST00000544758,p.E765Q|uc010qum.2,p.E765Q|ENST00000284694,p.E668Q|uc001ljp.3,p.E524Q|ENST00000480379,p.E72Q	protein_coding, processed_transcript	uc010qum.2	nonsynonymous SNV	exon9	c.G2293C	p.E765Q	YDNLPEVKKKKEEQRKRVILQSNRL	YDNLPEVKKKKEQQRKRVILQSNRL	1.0	7.0	-	-	4213_10:128114619-128114619 C>G_YDNLPEVKKKKEQQRKRVILQSNRL
X:63411434-63411434 A>C	1.0	4213	COLON	-	-	-	1	AMER1	uc022byb.1,p.L578R|ENST00000403336,p.L578R|ENST00000330258,p.L578R|uc004dvo.3,p.L578R|NM_152424,p.L578R|ENST00000374869,p.L578R	protein_coding	uc022byb.1	nonsynonymous SNV	exon1	c.T1733G	p.L578R	KQLLYWELRREQLEAQEARAREAHA	KQLLYWELRREQREAQEARAREAHA	6.0	10.0	unscreened	-	4213_X:63411434-63411434 A>C_KQLLYWELRREQREAQEARAREAHA
11:63885732-63885732 G>A	0.0	4213	COLON	-	-	-	-	FLRT1	uc021qks.1,p.G665S|NM_013280,p.G665S|ENST00000246841,p.G665S|uc001nyi.1,p.G665S	protein_coding	uc021qks.1	nonsynonymous SNV	exon1	c.G1993A	p.G665S	IGYGTTRGYRDGGIPDIDYSYT	IGYGTTRGYRDGSIPDIDYSYT	2.0	2.0	unscreened	-	4213_11:63885732-63885732 G>A_IGYGTTRGYRDGSIPDIDYSYT
16:84229288-84229288 C>T	0.0	4213	COLON	-	-	-	-	ADAD2	uc002fhr.2,p.A346V|ENST00000315906,p.A346V|ENST00000268624,p.A428V|NM_001145400,p.A346V|uc002fhq.2,p.A428V|NM_139174,p.A428V	retained_intron, protein_coding, processed_transcript	uc002fhr.2	nonsynonymous SNV	exon6	c.C1037T	p.A346V	FLHLYISNTPKGAARDIYLPPTSEG	FLHLYISNTPKGVARDIYLPPTSEG	4.0	9.0	-	-	4213_16:84229288-84229288 C>T_FLHLYISNTPKGVARDIYLPPTSEG
2:179477691-179477691 T>G	0.0	4213	COLON	-	-	-	-	TTN	uc031rqc.1,p.Y16586S|uc031rqd.1,p.Y14945S|ENST00000359218,p.Y7646S|ENST00000342175,p.Y7713S|NM_001267550,p.Y16586S|uc021vta.2,p.Y7646S|NM_003319,p.Y7521S|ENST00000591111,p.Y14945S|ENST00000589042,p.Y16586S|NM_001256850,p.Y14945S|ENST00000460472,p.Y7521S|ENST00000342992,p.Y14018S|uc021vsz.2,p.Y7713S|NM_133437,p.Y7713S|uc021vtb.2,p.Y7521S|uc021vsy.2,p.Y14018S|NM_133432,p.Y7646S|NM_133378,p.Y14018S	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon215	c.A44834C	p.Y14945S	KPEHDGGAKIESYVIEMLKTGTDEW	KPEHDGGAKIESSVIEMLKTGTDEW	5.0	10.0	-	-	4213_2:179477691-179477691 T>G_KPEHDGGAKIESSVIEMLKTGTDEW
19:54396324-54396324 T>G	0.0	4213	COLON	-	-	-	-	PRKCG	NM_002739,p.F302V|uc010yeh.1,p.F189V|ENST00000542049,p.F189V|ENST00000263431,p.F302V|ENST00000540413,p.F302V|uc010yeg.1,p.F302V|uc002qcq.1,p.F302V	protein_coding	uc010yeh.1	nonsynonymous SNV	exon6	c.T565G	p.F189V	VADADNCSLLQKFEACNYPLELYER	VADADNCSLLQKVEACNYPLELYER	4.0	2.0	unscreened	-	4213_19:54396324-54396324 T>G_VADADNCSLLQKVEACNYPLELYER
19:54396324-54396324 T>G	0.0	4213	COLON	-	-	-	-	PRKCG	uc010eqz.1,p.F302V	protein_coding	uc010eqz.1	nonsynonymous SNV	exon8	c.T904G	p.F302V	VADADNCSLLQKFEACNYPLELYEV	VADADNCSLLQKVEACNYPLELYEV	4.0	2.0	unscreened	-	4213_19:54396324-54396324 T>G_VADADNCSLLQKVEACNYPLELYEV
3:178936094-178936094 C>G	1.0	4213	COLON	-	-	ID=COSM6147,COSM1566572;OCCURENCE=4(breast),7(large_intestine),2(endometrium),1(cervix)	1	PIK3CA	NM_006218,p.Q546E|uc003fjk.3,p.Q546E|ENST00000263967,p.Q546E	retained_intron, protein_coding	uc003fjk.3	nonsynonymous SNV	exon10	c.C1636G	p.Q546E	ISTRDPLSEITEQEKDFLWSHRHYC	ISTRDPLSEITEEEKDFLWSHRHYC	8.0	9.0	unscreened	-	4213_3:178936094-178936094 C>G_ISTRDPLSEITEEEKDFLWSHRHYC
2:163133997-163133997 C>T	1.0	4213	COLON	-	-	-	-	IFIH1	ENST00000263642,p.E658K|NM_022168,p.E658K|uc002uce.4,p.E658K	retained_intron, protein_coding	uc002uce.4	nonsynonymous SNV	exon10	c.G1972A	p.E658K	DEGGDDEYCDGDEDEDDLKKPLKLD	DEGGDDEYCDGDKDEDDLKKPLKLD	9.0	10.0	unscreened	-	4213_2:163133997-163133997 C>T_DEGGDDEYCDGDKDEDDLKKPLKLD
19:22575266-22575266 C>A	0.0	4213	COLON	-	-	-	-	ZNF98	ENST00000357774,p.K257N|NM_001098626,p.K257N|uc002nqt.2,p.K257N	protein_coding, processed_transcript	uc002nqt.2	nonsynonymous SNV	exon4	c.G771T	p.K257N	KAFNRLSHLTTHKIIHTGKKPYKCE	KAFNRLSHLTTHNIIHTGKKPYKCE	3.0	8.0	-	-	4213_19:22575266-22575266 C>A_KAFNRLSHLTTHNIIHTGKKPYKCE
16:86613015-86613015 C>T	1.0	4213	COLON	-	-	-	-	FOXL1	ENST00000320241,p.A229V|NM_005250,p.A229V|uc002fjr.3,p.A229V	protein_coding	uc002fjr.3	nonsynonymous SNV	exon1	c.C686T	p.A229V	DAGDAAQGAAAVAVGQAARTGDGPG	DAGDAAQGAAAVVVGQAARTGDGPG	6.0	9.0	-	-	4213_16:86613015-86613015 C>T_DAGDAAQGAAAVVVGQAARTGDGPG
12:86373857-86373857 G>T	0.0	4213	COLON	-	-	-	-	MGAT4C	ENST00000552808,p.T216N|uc001tak.4,p.T216N|uc001taj.4,p.T216N|ENST00000549405,p.T216N|ENST00000547225,p.T216N|ENST00000332156,p.T216N|uc010sum.2,p.T240N|NM_013244,p.T216N|uc001tah.4,p.T216N|uc001tal.4,p.T216N|ENST00000604798,p.T216N|ENST00000393205,p.T245N|ENST00000548651,p.T216N|uc001tai.4,p.T216N	protein_coding, processed_transcript	uc010sum.2	nonsynonymous SNV	exon6	c.C719A	p.T240N	VDYAFLLNFCANTSDYYVMLEDDVR	VDYAFLLNFCANNSDYYVMLEDDVR	3.0	5.0	-	-	4213_12:86373857-86373857 G>T_VDYAFLLNFCANNSDYYVMLEDDVR
4:100532596-100532596 C>A	1.0	4213	COLON	-	-	-	-	MTTP	ENST00000511045,p.L686I|uc011cej.2,p.L686I|uc003hvc.4,p.L659I|NM_001300785,p.L686I|ENST00000457717,p.L659I|ENST00000265517,p.L659I|NM_000253,p.L659I	protein_coding, nonsense_mediated_decay	uc011cej.2	nonsynonymous SNV	exon14	c.C2056A	p.L686I	NLNIFQYIGKAGLHGSQVVIEAQGL	NLNIFQYIGKAGIHGSQVVIEAQGL	4.0	8.0	-	-	4213_4:100532596-100532596 C>A_NLNIFQYIGKAGIHGSQVVIEAQGL
2:171358297-171358297 T>A	0.0	4213	COLON	-	-	-	-	MYO3B	uc002ufy.3,p.W1098R|NM_138995,p.W1098R|ENST00000334231,p.W1107R|uc002ufv.4,p.W1098R|ENST00000408978,p.W1098R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ufy.3	nonsynonymous SNV	exon28	c.T3292A	p.W1098R	KREKGAIAIQSAWRGYDARRKFKKI	KREKGAIAIQSARRGYDARRKFKKI	3.0	1.0	unscreened	-	4213_2:171358297-171358297 T>A_KREKGAIAIQSARRGYDARRKFKKI
21:30927545-30927545 T>G	0.0	4213	COLON	-	-	-	-	GRIK1	ENST00000399913,p.K812T|ENST00000389125,p.K797T|uc011acs.2,p.K812T|ENST00000389124,p.K812T|NM_175611,p.K797T|uc002ynn.3,p.K797T|ENST00000399907,p.K812T|uc011act.2,p.K673T|ENST00000399914,p.K797T|ENST00000309434,p.K814T|NM_000830,p.K812T|ENST00000535441,p.K814T|uc002yno.1,p.K812T|ENST00000327783,p.K812T|ENST00000399909,p.K797T	protein_coding, processed_transcript	uc011act.2	nonsynonymous SNV	exon13	c.A2018C	p.K673T	LQEEGKLHMMKEKWWRGNGCPEEDN	LQEEGKLHMMKETWWRGNGCPEEDN	1.0	5.0	-	-	4213_21:30927545-30927545 T>G_LQEEGKLHMMKETWWRGNGCPEEDN
6:32322909-32322909 T>G	0.0	4213	COLON	-	-	-	-	C6orf10	ENST00000534588,p.N84T|ENST00000447241,p.N84T|uc021yvt.1,p.N84T|uc021yvs.1,p.N84T|NM_006781,p.N84T	protein_coding	uc021yvt.1	nonsynonymous SNV	exon8	c.A251C	p.N84T	RERSKRDYTPSTNSLVSMASKFSLG	RERSKRDYTPSTTSLVSMASKFSLG	1.0	3.0	-	-	4213_6:32322909-32322909 T>G_RERSKRDYTPSTTSLVSMASKFSLG
6:32322909-32322909 T>G	0.0	4213	COLON	-	-	-	-	C6orf10	ENST00000375007,p.N82T	protein_coding	ENST00000375007	nonsynonymous SNV	exon8	c.A245C	p.N82T	FQRSKRDYTPSTNSLVSMASKFSLG	FQRSKRDYTPSTTSLVSMASKFSLG	1.0	3.0	unscreened	-	4213_6:32322909-32322909 T>G_FQRSKRDYTPSTTSLVSMASKFSLG
2:220197278-220197278 C>A	0.0	4213	COLON	-	-	-	-	RESP18	NM_001007089,p.C67F|uc002vlc.4,p.C67F|ENST00000333527,p.C67F	retained_intron, protein_coding	uc002vlc.4	nonsynonymous SNV	exon2	c.G200T	p.C67F	LQLLVCFLLLNSCPGGCSDTSAHDG	LQLLVCFLLLNSFPGGCSDTSAHDG	1.0	10.0	-	-	4213_2:220197278-220197278 C>A_LQLLVCFLLLNSFPGGCSDTSAHDG
2:145147295-145147295 T>C	0.0	4213	COLON	-	-	-	-	ZEB2	NM_014795,p.D1123G|ENST00000558170,p.D1123G|ENST00000539609,p.D1099G|ENST00000303660,p.D1123G|uc002tvu.3,p.D1123G|ENST00000409487,p.D1123G|uc010zbm.2,p.D1099G|NM_001171653,p.D1099G|uc002tvv.3,p.D1117G	retained_intron, protein_coding, processed_transcript	uc010zbm.2	nonsynonymous SNV	exon9	c.A3296G	p.D1099G	AYLQSITPQGYSDSEERESMPRDGE	AYLQSITPQGYSGSEERESMPRDGE	9.0	1.0	unscreened	-	4213_2:145147295-145147295 T>C_AYLQSITPQGYSGSEERESMPRDGE
3:183906550-183906550 G>A	1.0	4213	COLON	-	-	-	-	ABCF3	ENST00000292808,p.A274T|uc003fna.2,p.A274T|ENST00000429586,p.A280T|NM_018358,p.A280T|uc003fmz.2,p.A280T	retained_intron, protein_coding, nonsense_mediated_decay	uc003fna.2	nonsynonymous SNV	exon8	c.G820A	p.A274T	ERELTAQIAAGRAEGSEAAELAEIY	ERELTAQIAAGRTEGSEAAELAEIY	9.0	9.0	unscreened	-	4213_3:183906550-183906550 G>A_ERELTAQIAAGRTEGSEAAELAEIY
2:192701389-192701389 C>T	0.0	4213	COLON	-	-	ID=COSM3391361;OCCURENCE=1(pancreas)	-	SDPR	ENST00000304141,p.V180M|uc002utb.3,p.V180M|NM_004657,p.V180M	protein_coding	uc002utb.3	nonsynonymous SNV	exon2	c.G538A	p.V180M	ASVFVKQPVSGAVEGKEELPDENKS	ASVFVKQPVSGAMEGKEELPDENKS	8.0	3.0	-	-	4213_2:192701389-192701389 C>T_ASVFVKQPVSGAMEGKEELPDENKS
1:205034250-205034250 G>A	0.0	4213	COLON	-	-	-	-	CNTN2	uc001hbs.3,p.D307N|ENST00000331830,p.D519N|uc001hbq.1,p.D410N|NM_005076,p.D519N|uc001hbr.3,p.D519N	retained_intron, protein_coding	uc001hbs.3	nonsynonymous SNV	exon8	c.G919A	p.D307N	DATKITLAPSSADINLGDNLTLQCH	DATKITLAPSSANINLGDNLTLQCH	2.0	5.0	-	-	4213_1:205034250-205034250 G>A_DATKITLAPSSANINLGDNLTLQCH
9:77377665-77377665 T>C	0.0	4213	COLON	-	-	-	-	TRPM6	ENST00000376864,p.R1308G|ENST00000360774,p.R1308G|NM_001177310,p.R1303G|ENST00000451710,p.R1308G|uc004ajj.1,p.R264G|ENST00000449912,p.R1303G|NM_001177311,p.R1303G|uc004ajl.1,p.R1308G|ENST00000361255,p.R1303G|uc022bib.1,p.R1303G|uc004ajk.1,p.R1303G|NM_017662,p.R1308G	protein_coding, processed_transcript	uc022bib.1	nonsynonymous SNV	exon26	c.A3907G	p.R1303G	QRGALLEITNSKREATNVRNDQERQ	QRGALLEITNSKGEATNVRNDQERQ	4.0	1.0	unscreened	-	4213_9:77377665-77377665 T>C_QRGALLEITNSKGEATNVRNDQERQ
20:49626275-49626275 C>T	0.0	4213	COLON	-	-	-	-	KCNG1	ENST00000371571,p.E201K|uc002xwb.3,p.E201K|ENST00000396017,p.E201K|uc002xwa.4,p.E201K|ENST00000439216,p.E201K|NM_002237,p.E201K	protein_coding	uc002xwb.3	nonsynonymous SNV	exon3	c.G601A	p.E201K	LDSEGRDSEGPAEGEGRLGRCMRRL	LDSEGRDSEGPAKGEGRLGRCMRRL	5.0	1.0	unscreened	-	4213_20:49626275-49626275 C>T_LDSEGRDSEGPAKGEGRLGRCMRRL
19:57290811-57290811 A>G	0.0	4213	COLON	-	-	-	-	ZIM2	NM_001146326,p.S226P|ENST00000391708,p.S226P|uc010ygr.1,p.S22P|ENST00000221722,p.S226P|NM_015363,p.S226P|ENST00000601070,p.S226P|uc002qnq.2,p.S226P|NM_001146327,p.S226P|ENST00000593711,p.S226P|uc010ygq.1,p.S22P|ENST00000599935,p.S226P|uc010etp.2,p.S226P|uc002qnr.2,p.S226P|uc010ygs.1,p.S226P	retained_intron, protein_coding, nonsense_mediated_decay	uc010ygs.1	nonsynonymous SNV	exon10	c.T676C	p.S226P	SLGHQFSKPDIISRLEEEESYAMET	SLGHQFSKPDIIPRLEEEESYAMET	3.0	4.0	-	-	4213_19:57290811-57290811 A>G_SLGHQFSKPDIIPRLEEEESYAMET
19:43097789-43097789 G>A	0.0	4213	COLON	0.0009	-	-	-	CEACAM8	ENST00000244336,p.R110W|NM_001816,p.R110W|uc002oud.2,p.R110W	protein_coding	uc002oud.2	nonsynonymous SNV	exon2	c.C328T	p.R110W	RETIYPNASLLMRNVTRNDTGSYTL	RETIYPNASLLMWNVTRNDTGSYTL	4.0	7.0	-	-	4213_19:43097789-43097789 G>A_RETIYPNASLLMWNVTRNDTGSYTL
8:90782125-90782125 A>C	1.0	4213	COLON	-	-	-	-	RIPK2	uc003yef.3,p.K66N|ENST00000540020,p.K66N|uc003yee.3,p.K203N|NM_003821,p.K203N|ENST00000220751,p.K203N	retained_intron, protein_coding, nonsense_mediated_decay	uc003yef.3	nonsynonymous SNV	exon3	c.A198C	p.K66N	IYMPPENYEPGQKSRASIKHDIYSY	IYMPPENYEPGQNSRASIKHDIYSY	8.0	2.0	unscreened	-	4213_8:90782125-90782125 A>C_IYMPPENYEPGQNSRASIKHDIYSY
X:100667706-100667706 G>A	1.0	4213	COLON	-	-	-	-	HNRNPH2	uc004ehm.3,p.D244N|NM_019597,p.D244N|ENST00000316594,p.D244N|uc022cai.1,p.D244N|NM_001032393,p.D244N|uc004ehn.3,p.D244N	protein_coding	uc022cai.1	nonsynonymous SNV	exon1	c.G730A	p.D244N	RRGAYGGGYGGYDDYGGYNDGYGFG	RRGAYGGGYGGYNDYGGYNDGYGFG	10.0	8.0	unscreened	-	4213_X:100667706-100667706 G>A_RRGAYGGGYGGYNDYGGYNDGYGFG
4:109663656-109663656 T>G	0.0	4213	COLON	-	-	-	-	ETNPPL	NM_001146590,p.K489T|uc010imc.3,p.K489T|ENST00000411864,p.K489T|uc011cfn.2,p.K422T|ENST00000510706,p.K455T|uc003hzc.3,p.K495T|ENST00000296486,p.K495T|NM_001146627,p.K437T|ENST00000512646,p.K437T|NM_031279,p.K495T|uc011cfo.2,p.K437T|uc011cfm.2,p.K455T	retained_intron, protein_coding, nonsense_mediated_decay	uc011cfo.2	nonsynonymous SNV	exon12	c.A1310C	p.K437T	NGMCTDTHSLLSKRLKT	NGMCTDTHSLLSTRLKT	1.0	1.0	unscreened	-	4213_4:109663656-109663656 T>G_NGMCTDTHSLLSTRLKT
1:20964358-20964358 G>T	1.0	4213	COLON	-	-	ID=COSM3803747;OCCURENCE=1(breast)	-	PINK1	uc001bdm.3,p.K137N|ENST00000321556,p.K137N|NM_032409,p.K137N	protein_coding, processed_transcript	uc001bdm.3	nonsynonymous SNV	exon2	c.G411T	p.K137N	CQEIQAIFTQKSKPGPDPLDTRRLQ	CQEIQAIFTQKSNPGPDPLDTRRLQ	9.0	8.0	-	-	4213_1:20964358-20964358 G>T_CQEIQAIFTQKSNPGPDPLDTRRLQ
19:15133828-15133828 G>A	0.0	4213	COLON	-	-	-	-	CCDC105	uc002nae.2,p.R466H|NM_173482,p.R466H|ENST00000292574,p.R466H	protein_coding	uc002nae.2	nonsynonymous SNV	exon7	c.G1397A	p.R466H	HEVDGNVVRLRLRQRQPHVCYEQAQ	HEVDGNVVRLRLHQRQPHVCYEQAQ	1.0	6.0	-	-	4213_19:15133828-15133828 G>A_HEVDGNVVRLRLHQRQPHVCYEQAQ
19:36398149-36398149 G>A	0.0	4213	COLON	-	-	-	-	TYROBP	ENST00000585901,p.R114C	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000585901	nonsynonymous SNV	exon4	c.C340T	p.R114C	QHPSPPAATRKQRITETESPYQELQ	QHPSPPAATRKQCITETESPYQELQ	10.0	8.0	-	-	4213_19:36398149-36398149 G>A_QHPSPPAATRKQCITETESPYQELQ
3:112282377-112282377 G>A	1.0	4213	COLON	-	-	-	-	SLC35A5	ENST00000468642,p.E43K|ENST00000261034,p.E43K|NM_017945,p.E43K|uc003dze.4,p.E43K|ENST00000492406,p.E43K|ENST00000484995,p.E43K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003dze.4	nonsynonymous SNV	exon2	c.G127A	p.E43K	SSRILLVKYSANEENKYDYLPTTVN	SSRILLVKYSANKENKYDYLPTTVN	8.0	5.0	-	-	4213_3:112282377-112282377 G>A_SSRILLVKYSANKENKYDYLPTTVN
19:36398149-36398149 G>A	0.0	4213	COLON	-	-	-	-	TYROBP	NM_003332,p.R83C|uc021uta.1,p.R72C|NM_001173514,p.R72C|uc002ocm.3,p.R83C|ENST00000544690,p.R72C|ENST00000262629,p.R83C	retained_intron, protein_coding, nonsense_mediated_decay	uc021uta.1	nonsynonymous SNV	exon3	c.C214T	p.R72C	GRGAAEAATRKQRITETESPYQELQ	GRGAAEAATRKQCITETESPYQELQ	10.0	8.0	-	-	4213_19:36398149-36398149 G>A_GRGAAEAATRKQCITETESPYQELQ
10:54527956-54527956 G>C	0.0	4213	COLON	-	-	-	-	MBL2	ENST00000373968,p.Q230E|uc001jjt.3,p.Q230E|NM_000242,p.Q230E	protein_coding, processed_transcript	uc001jjt.3	nonsynonymous SNV	exon4	c.C688G	p.Q230E	SDEDCVLLLKNGQWNDVPCSTSHLA	SDEDCVLLLKNGEWNDVPCSTSHLA	1.0	1.0	unscreened	-	4213_10:54527956-54527956 G>C_SDEDCVLLLKNGEWNDVPCSTSHLA
19:36398149-36398149 G>A	0.0	4213	COLON	-	-	-	-	TYROBP	NM_198125,p.R82C|ENST00000589517,p.R82C|uc021utb.1,p.R71C|ENST00000424586,p.R71C|uc002ocn.3,p.R82C|NM_001173515,p.R71C	retained_intron, protein_coding, nonsense_mediated_decay	uc021utb.1	nonsynonymous SNV	exon3	c.C211T	p.R71C	RGRGAAEATRKQRITETESPYQELQ	RGRGAAEATRKQCITETESPYQELQ	10.0	8.0	-	-	4213_19:36398149-36398149 G>A_RGRGAAEATRKQCITETESPYQELQ
8:99441463-99441463 G>A	0.0	4213	COLON	-	-	ID=COSM1102909;OCCURENCE=1(endometrium)	-	KCNS2	uc022azb.1,p.R419H|ENST00000287042,p.R419H|ENST00000521839,p.R419H|uc003yin.3,p.R419H|NM_020697,p.R419H	protein_coding	uc022azb.1	nonsynonymous SNV	exon1	c.G1256A	p.R419H	TLIFNKFSHFYRRQKQLESAMRSCD	TLIFNKFSHFYRHQKQLESAMRSCD	3.0	9.0	-	-	4213_8:99441463-99441463 G>A_TLIFNKFSHFYRHQKQLESAMRSCD
7:131128385-131128385 T>G	1.0	4213	COLON	-	-	-	-	MKLN1	uc003vqs.3,p.L233R|uc010lmh.2,p.L440R|uc011kpl.2,p.L417R|ENST00000352689,p.L440R|uc011kpm.2,p.L440R|NM_013255,p.L440R|NM_001145354,p.L417R|ENST00000421797,p.L348R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kpm.2	nonsynonymous SNV	exon11	c.T1319G	p.L440R	LFAFNCQCQTWKLLREDSCNAGPED	LFAFNCQCQTWKRLREDSCNAGPED	9.0	3.0	-	-	4213_7:131128385-131128385 T>G_LFAFNCQCQTWKRLREDSCNAGPED
7:149418566-149418566 G>A	0.0	4213	COLON	-	-	-	-	KRBA1	ENST00000485033,p.D136N|ENST00000319551,p.D136N|uc003wfz.3,p.D136N|ENST00000255992,p.D136N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003wfz.3	nonsynonymous SNV	exon5	c.G406A	p.D136N	PTSQPHLATTPTDSSCSSGPTGDGV	PTSQPHLATTPTNSSCSSGPTGDGV	6.0	9.0	-	-	4213_7:149418566-149418566 G>A_PTSQPHLATTPTNSSCSSGPTGDGV
3:113775283-113775283 A>C	1.0	4213	COLON	-	-	-	-	KIAA1407	ENST00000483766,p.L35R|uc011bio.1,p.L49R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bio.1	nonsynonymous SNV	exon1	c.T146G	p.L49R	LENAPGASGKVLLKEKDGAESLETV	LENAPGASGKVLRKEKDGAESLETV	7.0	4.0	unscreened	-	4213_3:113775283-113775283 A>C_LENAPGASGKVLRKEKDGAESLETV
3:195491003-195491003 G>A	1.0	4213	COLON	-	-	-	2	MUC4	NM_018406,p.R4653C|uc003fvo.3,p.R417C|ENST00000349607,p.R366C|uc021xjo.1,p.R133C|uc003fve.3,p.R169C|NM_004532,p.R417C|uc021xjm.1,p.R162C|uc021xji.1,p.R217C|ENST00000463781,p.R4653C|uc021xjl.1,p.R133C|uc021xjg.1,p.R133C|uc003fva.3,p.R133C|uc021xjn.1,p.R342C|uc021xjj.1,p.R217C|ENST00000478156,p.R4653C|uc003fvb.3,p.R169C|uc003fuz.3,p.R251C|NM_138297,p.R366C|uc003fvp.3,p.R366C|ENST00000475231,p.R4601C|ENST00000346145,p.R417C|uc021xjk.1,p.R394C|uc021xjp.1,p.R4653C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon11	c.C13957T	p.R4653C	LAQELEPQSWCCRWNDKPYLCALYQ	LAQELEPQSWCCCWNDKPYLCALYQ	6.0	7.0	unscreened	-	4213_3:195491003-195491003 G>A_LAQELEPQSWCCCWNDKPYLCALYQ
16:31424229-31424229 T>C	0.0	4213	COLON	-	-	-	-	ITGAD	NM_005353,p.L593P|uc010cap.1,p.L594P|ENST00000389202,p.L593P|uc002ebv.1,p.L593P	retained_intron, protein_coding	uc010cap.1	nonsynonymous SNV	exon15	c.T1781C	p.L594P	QYFGQALSGGQDLTQDGLMDLAVGA	QYFGQALSGGQDPTQDGLMDLAVGA	5.0	5.0	-	-	4213_16:31424229-31424229 T>C_QYFGQALSGGQDPTQDGLMDLAVGA
19:58850284-58850284 A>T	0.0	4213	COLON	-	-	-	-	ZSCAN22	uc002qsc.2,p.E356D|ENST00000329665,p.E356D|NM_181846,p.E356D	protein_coding	uc002qsc.2	nonsynonymous SNV	exon3	c.A1068T	p.E356D	RIHTGEKPYKCGECGKTFSRSTHLT	RIHTGEKPYKCGDCGKTFSRSTHLT	6.0	2.0	unscreened	-	4213_19:58850284-58850284 A>T_RIHTGEKPYKCGDCGKTFSRSTHLT
2:21250760-21250760 T>A	0.0	4213	COLON	-	-	-	-	APOB	uc002red.3,p.K669N|NM_000384,p.K669N|ENST00000233242,p.K669N|ENST00000399256,p.K669N	protein_coding	uc002red.3	nonsynonymous SNV	exon14	c.A2007T	p.K669N	GNLIFDPNNYLPKESMLKTTLTAFG	GNLIFDPNNYLPNESMLKTTLTAFG	2.0	7.0	-	-	4213_2:21250760-21250760 T>A_GNLIFDPNNYLPNESMLKTTLTAFG
1:158590227-158590227 A>C	0.0	4213	COLON	-	-	-	-	SPTA1	uc001fst.1,p.H2050Q|ENST00000368148,p.H2050Q|NM_003126,p.H2050Q|ENST00000368147,p.H2047Q	protein_coding, processed_transcript	uc001fst.1	nonsynonymous SNV	exon44	c.T6150G	p.H2050Q	LQKAEDLFVEFAHKASALNNWCEKM	LQKAEDLFVEFAQKASALNNWCEKM	3.0	6.0	-	-	4213_1:158590227-158590227 A>C_LQKAEDLFVEFAQKASALNNWCEKM
3:112545978-112545978 C>T	0.0	4213	COLON	-	-	-	-	CD200R1L	ENST00000488794,p.A160T|uc010hqf.1,p.A160T|NM_001199215,p.A160T|ENST00000448932,p.A160T|uc003dzi.1,p.A181T|uc011bhw.1,p.A160T|ENST00000398214,p.A181T|NM_001008784,p.A181T	protein_coding, nonsense_mediated_decay	uc011bhw.1	nonsynonymous SNV	exon6	c.G478A	p.A160T	AQISWIPEGSILATKQEYWGNGTVT	AQISWIPEGSILTTKQEYWGNGTVT	4.0	3.0	-	-	4213_3:112545978-112545978 C>T_AQISWIPEGSILTTKQEYWGNGTVT
1:57169738-57169738 G>C	0.0	4213	COLON	-	-	-	-	PRKAA2	uc031pmr.1,p.E182Q|ENST00000371244,p.E295Q|uc031pms.1,p.E182Q|NM_006252,p.E295Q|uc001cyk.4,p.E295Q	protein_coding	uc031pms.1	nonsynonymous SNV	exon5	c.G544C	p.E182Q	YDANVIDDEAVKEVCEKFECTESEV	YDANVIDDEAVKQVCEKFECTESEV	4.0	2.0	unscreened	-	4213_1:57169738-57169738 G>C_YDANVIDDEAVKQVCEKFECTESEV
6:73830278-73830278 T>G	0.0	4213	COLON	-	-	-	-	KCNQ5	ENST00000402622,p.L400V|NM_001160132,p.L400V|uc011dyi.2,p.L400V	protein_coding	uc011dyi.2	nonsynonymous SNV	exon8	c.T1198G	p.L400V	VSIATWKPHLKALHTCSPTNKFCSN	VSIATWKPHLKAVHTCSPTNKFCSN	4.0	4.0	-	-	4213_6:73830278-73830278 T>G_VSIATWKPHLKAVHTCSPTNKFCSN
6:73830278-73830278 T>G	0.0	4213	COLON	-	-	-	-	KCNQ5	ENST00000403813,p.L400V|uc010kat.3,p.L400V|uc011dyk.2,p.L159V|NM_001160130,p.L400V	protein_coding	uc011dyk.2	nonsynonymous SNV	exon7	c.T475G	p.L159V	VSIATWKPHLKALHTCSPTNQKLSF	VSIATWKPHLKAVHTCSPTNQKLSF	4.0	4.0	-	-	4213_6:73830278-73830278 T>G_VSIATWKPHLKAVHTCSPTNQKLSF
6:73830278-73830278 T>G	0.0	4213	COLON	-	-	-	-	KCNQ5	uc003pgj.4,p.L400V|ENST00000414165,p.L400V|ENST00000342056,p.L400V|uc011dyj.2,p.L400V|ENST00000370398,p.L400V|ENST00000355194,p.L400V|ENST00000370392,p.L400V|uc003pgk.3,p.L400V|NM_019842,p.L400V|NM_001160134,p.L400V|NM_001160133,p.L400V|uc011dyh.2,p.L400V	protein_coding	uc011dyj.2	nonsynonymous SNV	exon8	c.T1198G	p.L400V	VSIATWKPHLKALHTCSPTKKEQGE	VSIATWKPHLKAVHTCSPTKKEQGE	4.0	4.0	-	-	4213_6:73830278-73830278 T>G_VSIATWKPHLKAVHTCSPTKKEQGE
6:73830278-73830278 T>G	0.0	4213	COLON	-	-	-	-	KCNQ5	ENST00000355635,p.L400V	protein_coding	ENST00000355635	nonsynonymous SNV	exon8	c.T1198G	p.L400V	VSIATWKPHLKALHTCSPTKQNQQG	VSIATWKPHLKAVHTCSPTKQNQQG	4.0	4.0	-	-	4213_6:73830278-73830278 T>G_VSIATWKPHLKAVHTCSPTKQNQQG
9:40772229-40772229 G>C	1.0	4213	COLON	-	-	-	-	ZNF658	ENST00000602553,p.H1016D|uc004abs.2,p.H1016D|uc010mmn.1,p.H1016D|NM_033160,p.H1016D|ENST00000377626,p.H1016D	protein_coding, nonsense_mediated_decay	uc010mmn.1	nonsynonymous SNV	exon5	c.C3046G	p.H1016D	AQNSTLRVHQRIHTGEKPYECDECG	AQNSTLRVHQRIDTGEKPYECDECG	6.0	8.0	unscreened	-	4213_9:40772229-40772229 G>C_AQNSTLRVHQRIDTGEKPYECDECG
3:51315142-51315142 C>T	0.0	4213	COLON	-	-	ID=COSM272611;OCCURENCE=1(large_intestine)	-	DOCK3	NM_004947,p.A927V|uc011bds.2,p.A927V|ENST00000266037,p.A927V	protein_coding	uc011bds.2	nonsynonymous SNV	exon26	c.C2780T	p.A927V	LLTIMSKSHAQEAVRGQRCPQCTAE	LLTIMSKSHAQEVVRGQRCPQCTAE	4.0	8.0	-	-	4213_3:51315142-51315142 C>T_LLTIMSKSHAQEVVRGQRCPQCTAE
1:173506133-173506133 C>A	0.0	4213	COLON	-	-	-	-	SLC9C2	ENST00000367714,p.A535S|uc009wwe.2,p.A93S|NM_178527,p.A535S|uc001giz.2,p.A535S|ENST00000536496,p.A433S	protein_coding, processed_transcript	uc009wwe.2	nonsynonymous SNV	exon7	c.G277T	p.A93S	EKQRNNGILEIEAARILIGAAKCYY	EKQRNNGILEIESARILIGAAKCYY	2.0	3.0	-	-	4213_1:173506133-173506133 C>A_EKQRNNGILEIESARILIGAAKCYY
7:82581377-82581377 C>G	0.0	4213	COLON	-	-	-	-	PCLO	ENST00000333891,p.E2964D|uc003uhv.2,p.E2964D|ENST00000423517,p.E2964D|NM_014510,p.E2964D|uc003uhx.2,p.E2964D|NM_033026,p.E2964D	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon5	c.G8892C	p.E2964D	SCTAQQPATTLPEDRFGYRDDHYQY	SCTAQQPATTLPDDRFGYRDDHYQY	6.0	6.0	-	-	4213_7:82581377-82581377 C>G_SCTAQQPATTLPDDRFGYRDDHYQY
10:73767160-73767160 C>T	0.0	4213	COLON	-	-	-	-	CHST3	uc001jsn.3,p.P124L|NM_004273,p.P124L|ENST00000373115,p.P124L	protein_coding	uc001jsn.3	nonsynonymous SNV	exon3	c.C371T	p.P124L	EEEEEQRKEEEPPRPAVAGPRRHVL	EEEEEQRKEEEPLRPAVAGPRRHVL	6.0	6.0	-	-	4213_10:73767160-73767160 C>T_EEEEEQRKEEEPLRPAVAGPRRHVL
4:134084155-134084155 A>C	0.0	4213	COLON	-	-	-	-	PCDH10	NM_032961,p.T941P|ENST00000264360,p.T941P|uc003iha.3,p.T941P	retained_intron, protein_coding	uc003iha.3	nonsynonymous SNV	exon4	c.A2821C	p.T941P	AQSAGMDLFSNCTEECKALGHSDRC	AQSAGMDLFSNCPEECKALGHSDRC	5.0	4.0	-	-	4213_4:134084155-134084155 A>C_AQSAGMDLFSNCPEECKALGHSDRC
18:9887429-9887429 C>A	0.0	4213	COLON	-	-	-	-	TXNDC2	ENST00000306084,p.P318Q|uc002koi.4,p.P318Q|uc021ugx.1,p.P251Q|NM_032243,p.P251Q|uc002koh.4,p.P251Q|NM_001098529,p.P318Q|ENST00000357775,p.P251Q	protein_coding, processed_transcript	uc021ugx.1	nonsynonymous SNV	exon1	c.C752A	p.P251Q	AIQPKEGDIPKSPEEAIQPKEGDIP	AIQPKEGDIPKSQEEAIQPKEGDIP	3.0	9.0	unscreened	-	4213_18:9887429-9887429 C>A_AIQPKEGDIPKSQEEAIQPKEGDIP
7:23810629-23810629 A>C	0.0	4213	COLON	-	-	-	-	STK31	uc031swr.1,p.Q550H|uc003sws.5,p.Q573H|ENST00000354639,p.Q550H|NM_031414,p.Q573H|NM_032944,p.Q550H|uc010kuq.4,p.Q550H|uc003swt.5,p.Q550H|ENST00000428484,p.Q550H|ENST00000433467,p.Q573H|NM_001260504,p.Q550H|NM_001260505,p.Q573H|uc011jze.3,p.Q573H|ENST00000355870,p.Q573H	retained_intron, protein_coding, processed_transcript	uc031swr.1	nonsynonymous SNV	exon14	c.A1650C	p.Q550H	SVCKELEIALVDQGDADKEIISNTY	SVCKELEIALVDHGDADKEIISNTY	6.0	4.0	unscreened	-	4213_7:23810629-23810629 A>C_SVCKELEIALVDHGDADKEIISNTY
8:114326907-114326907 T>G	0.0	4213	COLON	-	-	-	2	CSMD3	ENST00000455883,p.E98D|uc003ynt.3,p.E58D|NM_198124,p.E58D|uc003ynu.3,p.E98D|NM_052900,p.E98D|ENST00000343508,p.E58D|uc010mcx.1,p.E98D|uc011lhx.2,p.E98D|uc003ynx.4,p.E98D|ENST00000297405,p.E98D|NM_198123,p.E98D|ENST00000352409,p.E98D	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon2	c.A294C	p.E98D	PNGANCTWVIIAEERNRIQIVFQSF	PNGANCTWVIIADERNRIQIVFQSF	2.0	7.0	-	-	4213_8:114326907-114326907 T>G_PNGANCTWVIIADERNRIQIVFQSF
19:10088042-10088042 T>G	0.0	4213	COLON	-	-	-	-	COL5A3	ENST00000264828,p.K1078T|NM_015719,p.K1078T|uc002mmq.1,p.K1078T	retained_intron, protein_coding	uc002mmq.1	nonsynonymous SNV	exon43	c.A3233C	p.K1078T	PGAAGPSGEEGDKGDVGAPGHKGSK	PGAAGPSGEEGDTGDVGAPGHKGSK	7.0	3.0	unscreened	-	4213_19:10088042-10088042 T>G_PGAAGPSGEEGDTGDVGAPGHKGSK
19:22574806-22574806 A>T	0.0	4213	COLON	-	-	-	-	ZNF98	uc002nqt.2,p.C411S|ENST00000357774,p.C411S|NM_001098626,p.C411S	protein_coding, processed_transcript	uc002nqt.2	nonsynonymous SNV	exon4	c.T1231A	p.C411S	IHAGEKFYKCEVCSKAFSRFSHLTT	IHAGEKFYKCEVSSKAFSRFSHLTT	3.0	6.0	unscreened	-	4213_19:22574806-22574806 A>T_IHAGEKFYKCEVSSKAFSRFSHLTT
22:16287635-16287635 C>A	0.0	4213	COLON	-	-	-	-	POTEH	uc010gqp.2,p.G84V|NM_001136213,p.G84V|ENST00000452800,p.G28V|ENST00000343518,p.G84V	protein_coding, nonsense_mediated_decay	uc010gqp.2	nonsynonymous SNV	exon1	c.G251T	p.G84V	CRGSGKSNVGTSGDHDDSAMKTLRS	CRGSGKSNVGTSVDHDDSAMKTLRS	1.0	3.0	unscreened	-	4213_22:16287635-16287635 C>A_CRGSGKSNVGTSVDHDDSAMKTLRS
6:37606004-37606004 C>T	0.0	4213	COLON	-	-	-	-	MDGA1	ENST00000505425,p.R918Q|uc003onv.1,p.R187Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003onv.1	nonsynonymous SNV	exon7	c.G560A	p.R187Q	IDDVTLKKGECPRKQTDPNKGARRE	IDDVTLKKGECPQKQTDPNKGARRE	6.0	3.0	unscreened	-	4213_6:37606004-37606004 C>T_IDDVTLKKGECPQKQTDPNKGARRE
17:8411936-8411936 T>G	0.0	4213	COLON	-	-	-	-	MYH10	uc010cnx.4,p.E1028D|NM_005964,p.E1019D|ENST00000396239,p.E1040D|uc002gll.4,p.E1019D|NM_001256095,p.E1028D|NM_001256012,p.E1050D|uc002glm.4,p.E1050D|ENST00000379980,p.E1035D|ENST00000360416,p.E1050D|ENST00000269243,p.E1019D	retained_intron, protein_coding	uc010cnx.4	nonsynonymous SNV	exon25	c.A3084C	p.E1028D	RIAECSSQLAEEEEKAKNLAKIRNK	RIAECSSQLAEEDEKAKNLAKIRNK	9.0	7.0	unscreened	-	4213_17:8411936-8411936 T>G_RIAECSSQLAEEDEKAKNLAKIRNK
6:66115128-66115128 T>C	0.0	4213	COLON	-	-	-	-	EYS	uc021zbn.1,p.D332G|uc011dxu.1,p.D332G|NM_198283,p.D332G|ENST00000503581,p.D332G|ENST00000370621,p.D332G|ENST00000393380,p.D332G|NM_001142801,p.D332G|uc003per.1,p.D332G|ENST00000342421,p.D332G|NM_001142800,p.D332G|uc003peq.3,p.D332G|NM_001292009,p.D332G|ENST00000370616,p.D332G|ENST00000370618,p.D332G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zbn.1	nonsynonymous SNV	exon6	c.A995G	p.D332G	CPKGSSSQNGETDVSEFSLVPCQNG	CPKGSSSQNGETGVSEFSLVPCQNG	4.0	5.0	-	-	4213_6:66115128-66115128 T>C_CPKGSSSQNGETGVSEFSLVPCQNG
6:37606004-37606004 C>T	0.0	4213	COLON	-	-	-	-	MDGA1	ENST00000434837,p.R918Q|NM_153487,p.R918Q|ENST00000297153,p.R922Q|uc003onu.1,p.R918Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003onu.1	nonsynonymous SNV	exon16	c.G2753A	p.R918Q	IDDVTLKKGECPRKQTDPNKVVVMP	IDDVTLKKGECPQKQTDPNKVVVMP	6.0	3.0	unscreened	-	4213_6:37606004-37606004 C>T_IDDVTLKKGECPQKQTDPNKVVVMP
6:69758172-69758172 T>C	0.0	4213	COLON	-	-	-	-	BAI3	ENST00000370598,p.S735P|uc003pev.4,p.S735P|NM_001704,p.S735P|uc010kak.3,p.S735P	protein_coding	uc010kak.3	nonsynonymous SNV	exon13	c.T2203C	p.S735P	KGRKGMVDWARNSEDRVVIPKSIFT	KGRKGMVDWARNPEDRVVIPKSIFT	4.0	5.0	-	-	4213_6:69758172-69758172 T>C_KGRKGMVDWARNPEDRVVIPKSIFT
17:11461593-11461593 C>A	0.0	4213	COLON	-	-	-	-	SHISA6	ENST00000441885,p.T543K|uc002gnc.2,p.T543K|NM_001173461,p.T492K|ENST00000432116,p.T524K|uc002gna.4,p.T492K|uc010con.3,p.T222K|NM_001173462,p.T524K|uc010com.3,p.T524K|ENST00000409168,p.T492K|NM_207386,p.T543K	retained_intron, protein_coding	uc010con.3	nonsynonymous SNV	exon2	c.C665A	p.T222K	QLHYIPGHHTCYTASKTEVTV	QLHYIPGHHTCYKASKTEVTV	3.0	6.0	-	-	4213_17:11461593-11461593 C>A_QLHYIPGHHTCYKASKTEVTV
19:56703232-56703232 A>C	0.0	4213	COLON	-	-	-	-	ZSCAN5B	uc010ygh.2,p.L192R|ENST00000586855,p.L192R|NM_001080456,p.L192R|ENST00000358992,p.L192R	protein_coding	uc010ygh.2	nonsynonymous SNV	exon2	c.T575G	p.L192R	RREQQILPRVAALSRRQGEDFLLHK	RREQQILPRVAARSRRQGEDFLLHK	3.0	5.0	-	-	4213_19:56703232-56703232 A>C_RREQQILPRVAARSRRQGEDFLLHK
8:139165045-139165045 G>T	0.0	4213	COLON	-	-	ID=COSM317311,COSM317310;OCCURENCE=1(lung)	2	FAM135B	uc003yux.3,p.S459Y|ENST00000395297,p.S558Y|NM_015912,p.S558Y|uc003yvb.3,p.S120Y|uc003yuy.3,p.S558Y|uc003yva.3,p.S120Y|ENST00000276737,p.S558Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yvb.3	nonsynonymous SNV	exon1	c.C359A	p.S120Y	GQAPVLTYIDVKSSNKNPSRAEPLV	GQAPVLTYIDVKYSNKNPSRAEPLV	2.0	4.0	-	-	4213_8:139165045-139165045 G>T_GQAPVLTYIDVKYSNKNPSRAEPLV
13:96212484-96212484 G>A	0.0	4213	COLON	-	-	-	-	CLDN10	NM_182848,p.G105R|ENST00000376855,p.G25R|NM_006984,p.G107R|uc001vmg.2,p.G105R|NM_001160100,p.G86R|ENST00000376873,p.G105R|uc001vmh.2,p.G107R|ENST00000299339,p.G107R|uc010tii.1,p.G86R	protein_coding	uc010tii.1	nonsynonymous SNV	exon2	c.G256A	p.G86R	IFALFGMKCTKVGGSDKAKAKIACL	IFALFGMKCTKVRGSDKAKAKIACL	7.0	7.0	unscreened	-	4213_13:96212484-96212484 G>A_IFALFGMKCTKVRGSDKAKAKIACL
2:132010512-132010512 G>A	0.0	4213	COLON	-	-	-	-	POTEE	NM_001083538,p.E540K|uc002tsl.2,p.E122K|uc002tsn.2,p.E540K|uc002tsk.2,p.E140K|ENST00000356920,p.E540K	protein_coding	uc002tsn.2	nonsynonymous SNV	exon13	c.G1618A	p.E540K	DGDRELENFMAIEEMKKHGSTHVGF	DGDRELENFMAIKEMKKHGSTHVGF	6.0	5.0	unscreened	-	4213_2:132010512-132010512 G>A_DGDRELENFMAIKEMKKHGSTHVGF
11:92577568-92577568 A>C	0.0	4213	COLON	-	-	-	2	FAT3	NM_001008781,p.T3679P|ENST00000298047,p.T3679P|ENST00000533797,p.T14P|ENST00000409404,p.T3679P|uc001pdi.4,p.T119P|uc001pdj.4,p.T3679P|ENST00000525166,p.T3529P	retained_intron, protein_coding, processed_transcript	uc001pdj.4	nonsynonymous SNV	exon18	c.A11035C	p.T3679P	HGFRRTLRNAVLTQKQDSLRIISIQ	HGFRRTLRNAVLPQKQDSLRIISIQ	4.0	4.0	-	-	4213_11:92577568-92577568 A>C_HGFRRTLRNAVLPQKQDSLRIISIQ
5:140250882-140250882 G>T	0.0	4213	COLON	-	-	-	-	PCDHA11	NM_031861,p.A732S|uc011dae.2,p.A732S|NM_018902,p.A732S|ENST00000398640,p.A732S|uc003lia.2,p.A732S	protein_coding	uc011dae.2	nonsynonymous SNV	exon1	c.G2194T	p.A732S	LWWSATPTEGACAPGKPTLVCSRAV	LWWSATPTEGACSPGKPTLVCSRAV	2.0	6.0	-	-	4213_5:140250882-140250882 G>T_LWWSATPTEGACSPGKPTLVCSRAV
8:10465651-10465651 G>T	0.0	4213	COLON	-	-	-	-	RP1L1	NM_178857,p.T1986N|ENST00000382483,p.T1986N|uc003wtc.3,p.T1986N	protein_coding, processed_transcript	uc003wtc.3	nonsynonymous SNV	exon4	c.C5957A	p.T1986N	SEDVEALEVEVETQEAEGEAQPESE	SEDVEALEVEVENQEAEGEAQPESE	2.0	6.0	unscreened	-	4213_8:10465651-10465651 G>T_SEDVEALEVEVENQEAEGEAQPESE
X:73960054-73960054 C>G	0.0	4213	COLON	-	-	-	-	KIAA2022	ENST00000373468,p.K1446N|NM_001008537,p.K1446N|uc004eby.3,p.K1446N|ENST00000055682,p.K1446N	protein_coding	uc004eby.3	nonsynonymous SNV	exon3	c.G4338C	p.K1446N	MSTLGNNGPTHKKLYRHKSSSKALR	MSTLGNNGPTHKNLYRHKSSSKALR	3.0	5.0	-	-	4213_X:73960054-73960054 C>G_MSTLGNNGPTHKNLYRHKSSSKALR
12:52967550-52967550 T>G	0.0	4213	COLON	-	-	-	-	KRT74	uc001sap.1,p.Q4H|ENST00000549343,p.Q4H|NM_175053,p.Q4H|ENST00000305620,p.Q4H	retained_intron, protein_coding	uc001sap.1	nonsynonymous SNV	exon1	c.A12C	p.Q4H	MSRQLNIKSSGDKGNF	MSRHLNIKSSGDKGNF	2.0	4.0	unscreened	-	4213_12:52967550-52967550 T>G_MSRHLNIKSSGDKGNF
21:37610932-37610932 G>A	1.0	4234	LUNG	-	-	-	-	DOPEY2	uc002yvg.3,p.V937M|NM_005128,p.V937M|ENST00000399151,p.V937M	retained_intron, protein_coding, processed_transcript	uc002yvg.3	nonsynonymous SNV	exon17	c.G2809A	p.V937M	KGTRLEALFRFSVIWHLTREIQGSR	KGTRLEALFRFSMIWHLTREIQGSR	7.0	7.0	CD8	-	4234_21:37610932-37610932 G>A_KGTRLEALFRFSMIWHLTREIQGSR
21:37610932-37610932 G>A	1.0	4234	LUNG	-	-	-	-	DOPEY2	uc011aeb.2,p.V886M	retained_intron, protein_coding, processed_transcript	uc011aeb.2	nonsynonymous SNV	exon15	c.G2656A	p.V886M	QGTRLEALFRFSVIWHLTREIQGSR	QGTRLEALFRFSMIWHLTREIQGSR	7.0	7.0	CD8	-	4234_21:37610932-37610932 G>A_QGTRLEALFRFSMIWHLTREIQGSR
1:145457587-145457587 G>A	1.0	4234	LUNG	-	-	-	-	POLR3GL	ENST00000369313,p.R92W	retained_intron, protein_coding	ENST00000369313	nonsynonymous SNV	exon4	c.C274T	p.R92W	PAVPKRDWRRLPRELKIRVRKLQKE	PAVPKRDWRRLPWELKIRVRKLQKE	9.0	1.0	-	-	4234_1:145457587-145457587 G>A_PAVPKRDWRRLPWELKIRVRKLQKE
1:145457587-145457587 G>A	1.0	4234	LUNG	-	-	-	-	POLR3GL	ENST00000369314,p.R115W|NM_032305,p.R115W|uc001enp.1,p.R115W	retained_intron, protein_coding	uc001enp.1	nonsynonymous SNV	exon5	c.C343T	p.R115W	AIDWNPDWRRLPRELKIRVRKLQKE	AIDWNPDWRRLPWELKIRVRKLQKE	9.0	1.0	-	-	4234_1:145457587-145457587 G>A_AIDWNPDWRRLPWELKIRVRKLQKE
7:157997959-157997959 G>A	1.0	4234	LUNG	-	-	-	-	PTPRN2	NM_002847,p.T95M|NM_130843,p.T95M|uc003wnp.3,p.T78M|ENST00000404321,p.T118M|uc003wno.3,p.T95M|ENST00000389418,p.T95M|ENST00000389416,p.T78M|NM_130842,p.T78M|uc011kwa.2,p.T118M|uc003wnq.3,p.T95M|ENST00000389413,p.T95M	protein_coding	uc011kwa.2	nonsynonymous SNV	exon4	c.C353T	p.T118M	RVALQKLSGTGFTWQDDYTQYVMDQ	RVALQKLSGTGFMWQDDYTQYVMDQ	7.0	3.0	-	-	4234_7:157997959-157997959 G>A_RVALQKLSGTGFMWQDDYTQYVMDQ
7:157997959-157997959 G>A	1.0	4234	LUNG	-	-	-	-	PTPRN2	uc003wnr.3,p.T57M|ENST00000409483,p.T57M	protein_coding	uc003wnr.3	nonsynonymous SNV	exon3	c.C170T	p.T57M	LCGASEACVNGFTWQDDYTQYVMDQ	LCGASEACVNGFMWQDDYTQYVMDQ	7.0	3.0	-	-	4234_7:157997959-157997959 G>A_LCGASEACVNGFMWQDDYTQYVMDQ
X:153695633-153695633 G>T	1.0	4234	LUNG	-	-	-	-	PLXNA3	uc004flm.3,p.G1087V|NM_017514,p.G1087V|ENST00000369682,p.G1087V	retained_intron, protein_coding, processed_transcript	uc004flm.3	nonsynonymous SNV	exon19	c.G3260T	p.G1087V	TAMLCKAPGIFLGRPQPRAQGEHPD	TAMLCKAPGIFLVRPQPRAQGEHPD	7.0	6.0	-	-	4234_X:153695633-153695633 G>T_TAMLCKAPGIFLVRPQPRAQGEHPD
19:1063657-1063657 G>T	1.0	4234	LUNG	-	-	-	-	ABCA7	ENST00000433129,p.D1943Y|uc002lqy.3,p.D396Y|ENST00000263094,p.D1943Y|uc002lqw.4,p.D1943Y|NM_019112,p.D1943Y|ENST00000435683,p.D1805Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lqy.3	nonsynonymous SNV	exon10	c.G1186T	p.D396Y	KRKLATALALVGDPAVVFLDEPTTG	KRKLATALALVGYPAVVFLDEPTTG	8.0	10.0	-	-	4234_19:1063657-1063657 G>T_KRKLATALALVGYPAVVFLDEPTTG
1:222742860-222742860 C>A	1.0	4234	LUNG	-	-	-	-	TAF1A	ENST00000350027,p.V296L|NM_005681,p.V296L|NM_001201536,p.V296L|NM_139352,p.V182L|ENST00000366890,p.V182L|ENST00000391883,p.V258L|uc001hnj.3,p.V296L|ENST00000352967,p.V296L|ENST00000391882,p.V182L|uc009xdz.2,p.V296L|uc001hni.2,p.V182L	protein_coding, processed_transcript	uc009xdz.2	nonsynonymous SNV	exon7	c.G886T	p.V296L	KRQKAPRSKLISVLKILYQIVPSHK	KRQKAPRSKLISLLKILYQIVPSHK	7.0	1.0	-	-	4234_1:222742860-222742860 C>A_KRQKAPRSKLISLLKILYQIVPSHK
19:39068825-39068825 G>T	1.0	4234	LUNG	-	-	-	-	RYR1	NM_001042723,p.G4777V|ENST00000360985,p.G4777V|ENST00000359596,p.G4782V|uc002oit.3,p.G4782V|uc002oiu.3,p.G4777V|NM_000540,p.G4782V|ENST00000355481,p.G4777V	retained_intron, protein_coding, nonsense_mediated_decay	uc002oiu.3	nonsynonymous SNV	exon98	c.G14330T	p.G4777V	MSIDVKYQIWKFGVIFTDNSFLYLG	MSIDVKYQIWKFVVIFTDNSFLYLG	7.0	1.0	-	-	4234_19:39068825-39068825 G>T_MSIDVKYQIWKFVVIFTDNSFLYLG
11:86778796-86778796 A>G	1.0	4234	LUNG	-	-	-	-	TMEM135	uc001pch.3,p.I68V|ENST00000526733,p.I68V|ENST00000525018,p.I68V|NM_001168724,p.I68V|ENST00000340353,p.I68V|uc001pci.3,p.I68V|NM_022918,p.I68V|ENST00000305494,p.I68V|ENST00000355734,p.I68V|uc001pcg.2,p.I68V	retained_intron, protein_coding	uc001pci.3	nonsynonymous SNV	exon2	c.A202G	p.I68V	KLDYYLHKLLPEILQSASFLTANGA	KLDYYLHKLLPEVLQSASFLTANGA	7.0	8.0	-	-	4234_11:86778796-86778796 A>G_KLDYYLHKLLPEVLQSASFLTANGA
2:118582657-118582657 T>A	1.0	4234	LUNG	-	-	-	-	DDX18	ENST00000415038,p.L114M|ENST00000263239,p.L450M|NM_006773,p.L450M|uc002tlh.1,p.L450M	retained_intron, protein_coding, processed_transcript	uc002tlh.1	nonsynonymous SNV	exon9	c.T1348A	p.L450M	VKYHYELLNYIDLPVLAIHGKQKQN	VKYHYELLNYIDMPVLAIHGKQKQN	9.0	5.0	-	-	4234_2:118582657-118582657 T>A_VKYHYELLNYIDMPVLAIHGKQKQN
2:74087201-74087201 G>T	1.0	4234	LUNG	-	-	-	-	STAMBP	ENST00000394070,p.D381Y|NM_006463,p.D381Y|NM_201647,p.D381Y|uc002sju.3,p.D381Y|NM_213622,p.D381Y|ENST00000394073,p.D381Y|ENST00000339566,p.D381Y|uc002sjs.3,p.D381Y|ENST00000409707,p.D381Y|uc002sjv.3,p.D381Y	protein_coding, processed_transcript	uc002sjv.3	nonsynonymous SNV	exon9	c.G1141T	p.D381Y	PKFQETGFFKLTDHGLEEISSCRQK	PKFQETGFFKLTYHGLEEISSCRQK	9.0	5.0	-	-	4234_2:74087201-74087201 G>T_PKFQETGFFKLTYHGLEEISSCRQK
11:45827753-45827753 G>T	1.0	4234	LUNG	-	-	-	-	SLC35C1	NM_018389,p.C134F|ENST00000442528,p.C121F|ENST00000314134,p.C134F|ENST00000530471,p.C121F|NM_001145266,p.C121F|uc001nbo.3,p.C121F|ENST00000456334,p.C121F|NM_001145265,p.C121F|uc010rgm.2,p.C121F|uc001nbp.3,p.C134F	protein_coding	uc010rgm.2	nonsynonymous SNV	exon2	c.G362T	p.C121F	VVFIGMITFNNLCLKYVGVAFYNVG	VVFIGMITFNNLFLKYVGVAFYNVG	8.0	6.0	-	-	4234_11:45827753-45827753 G>T_VVFIGMITFNNLFLKYVGVAFYNVG
2:170917883-170917883 G>T	1.0	4234	LUNG	-	-	-	-	UBR3	ENST00000418381,p.C1650F|uc002ufu.4,p.C156F|uc010zdi.2,p.C1650F|ENST00000439681,p.C350F|uc002uft.4,p.C507F|ENST00000272793,p.C1650F|uc010fqa.3,p.C471F|ENST00000392631,p.C471F|uc010zdj.2,p.C341F|NM_172070,p.C1650F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zdj.2	nonsynonymous SNV	exon10	c.G1022T	p.C341F	SPESMEKCLQDFCLPFLRITSLLQH	SPESMEKCLQDFFLPFLRITSLLQH	7.0	7.0	-	-	4234_2:170917883-170917883 G>T_SPESMEKCLQDFFLPFLRITSLLQH
19:7620180-7620180 A>T	1.0	4234	LUNG	-	-	-	-	PNPLA6	uc010xjp.2,p.S890C|NM_001166114,p.S955C|NM_001166112,p.S890C|ENST00000450331,p.S917C|uc002mgq.2,p.S917C|uc002mgr.2,p.S917C|NM_001166111,p.S965C|NM_006702,p.S917C|uc010xjq.2,p.S965C|ENST00000545201,p.S890C|ENST00000221249,p.S917C|NM_001166113,p.S917C|ENST00000414982,p.S965C|uc002mgs.3,p.S955C|ENST00000600737,p.S955C	retained_intron, protein_coding, processed_transcript	uc010xjq.2	nonsynonymous SNV	exon25	c.A2893T	p.S965C	YEKVFSRRADRHSDFSRLARVLTGN	YEKVFSRRADRHCDFSRLARVLTGN	9.0	8.0	-	-	4234_19:7620180-7620180 A>T_YEKVFSRRADRHCDFSRLARVLTGN
1:220835209-220835209 C>A	1.0	4234	LUNG	-	-	-	-	MARK1	uc009xdw.3,p.P698T|uc001hmn.4,p.P697T|ENST00000366917,p.P697T|ENST00000402574,p.P547T|NM_018650,p.P697T|ENST00000366918,p.P660T|uc010pun.2,p.P682T|NM_001286128,p.P660T|NM_001286126,p.P682T|NM_001286124,p.P698T|uc001hmm.4,p.P660T	protein_coding, processed_transcript	uc010pun.2	nonsynonymous SNV	exon17	c.C2044A	p.P682T	KERDKEEGKDSKPRSLRFTWSMKTT	KERDKEEGKDSKTRSLRFTWSMKTT	7.0	8.0	-	-	4234_1:220835209-220835209 C>A_KERDKEEGKDSKTRSLRFTWSMKTT
17:78346883-78346883 G>T	1.0	4234	LUNG	-	-	-	1	RNF213	ENST00000582970,p.R4287L|ENST00000336301,p.R2360L|uc021uen.2,p.R4287L|ENST00000508628,p.R4336L|NM_001256071,p.R4287L	retained_intron, protein_coding, processed_transcript	uc021uen.2	nonsynonymous SNV	exon49	c.G12860T	p.R4287L	HRVYLVRKLSSQRGMEFVQGLSKPG	HRVYLVRKLSSQLGMEFVQGLSKPG	9.0	9.0	-	-	4234_17:78346883-78346883 G>T_HRVYLVRKLSSQLGMEFVQGLSKPG
12:21242969-21242969 G>T	1.0	4234	LUNG	-	-	-	-	SLCO1B7	uc010sim.2,p.V665L|uc010sin.2,p.V618L|ENST00000553473,p.V726L|ENST00000421593,p.V618L|ENST00000554957,p.V665L|NM_001009562,p.V618L|uc010sil.2,p.V726L|ENST00000540229,p.V726L|ENST00000381541,p.V665L	protein_coding, nonsense_mediated_decay	uc010sin.2	nonsynonymous SNV	exon13	c.G1852T	p.V618L	GKDTKVLENERQVMDEANLEFLNDS	GKDTKVLENERQLMDEANLEFLNDS	7.0	8.0	-	-	4234_12:21242969-21242969 G>T_GKDTKVLENERQLMDEANLEFLNDS
2:15696907-15696907 C>A	0.0	4234	LUNG	-	-	-	-	NBAS	uc002rcc.2,p.S70I|ENST00000441750,p.S70I|NM_015909,p.S70I|ENST00000281513,p.S70I	retained_intron, protein_coding, nonsense_mediated_decay	uc002rcc.2	nonsynonymous SNV	exon3	c.G209T	p.S70I	DRLLFLRQYIWYSPAPFLLPDGLVR	DRLLFLRQYIWYIPAPFLLPDGLVR	8.0	4.0	CD8	-	4234_2:15696907-15696907 C>A_DRLLFLRQYIWYIPAPFLLPDGLVR
17:37459870-37459870 C>A	1.0	4234	LUNG	-	-	-	-	FBXL20	ENST00000264658,p.V43F|ENST00000394294,p.V43F|uc010cvu.3,p.V43F|uc002hrt.3,p.V43F|NM_032875,p.V43F|NM_001184906,p.V43F|ENST00000577399,p.V45F|ENST00000583610,p.V43F	protein_coding	uc010cvu.3	nonsynonymous SNV	exon3	c.G127T	p.V43F	ELLLRIFSFLDVVTLCRCAQVSRAW	ELLLRIFSFLDVFTLCRCAQVSRAW	7.0	6.0	-	-	4234_17:37459870-37459870 C>A_ELLLRIFSFLDVFTLCRCAQVSRAW
2:24297040-24297040 G>A	1.0	4234	LUNG	-	-	-	-	SF3B6	uc002rev.3,p.R19W|ENST00000233468,p.R19W|NM_016047,p.R19W	retained_intron, protein_coding	uc002rev.3	nonsynonymous SNV	exon2	c.C55T	p.R19W	KRANIRLPPEVNRILYIRNLPYKIT	KRANIRLPPEVNWILYIRNLPYKIT	10.0	1.0	-	-	4234_2:24297040-24297040 G>A_KRANIRLPPEVNWILYIRNLPYKIT
19:8575824-8575824 C>A	1.0	4234	LUNG	-	-	-	-	ZNF414	NM_001146175,p.R337L|uc002mke.4,p.R337L|ENST00000393927,p.R337L	retained_intron, protein_coding, nonsense_mediated_decay	uc002mke.4	nonsynonymous SNV	exon7	c.G1010T	p.R337L	YSCMQCAFSTASRPAMTLHLEDHRP	YSCMQCAFSTASLPAMTLHLEDHRP	8.0	9.0	-	-	4234_19:8575824-8575824 C>A_YSCMQCAFSTASLPAMTLHLEDHRP
10:73767735-73767735 G>C	1.0	4234	LUNG	-	-	-	-	CHST3	NM_004273,p.G316R|uc001jsn.3,p.G316R|ENST00000373115,p.G316R	protein_coding	uc001jsn.3	nonsynonymous SNV	exon3	c.G946C	p.G316R	RAVLASRMVAFAGKYKTWKKWLDDE	RAVLASRMVAFARKYKTWKKWLDDE	7.0	10.0	-	-	4234_10:73767735-73767735 G>C_RAVLASRMVAFARKYKTWKKWLDDE
5:169143235-169143235 G>T	0.0	4234	LUNG	-	-	-	-	DOCK2	NM_004946,p.D654Y|uc010jjm.3,p.D146Y|uc003maf.3,p.D654Y|ENST00000524185,p.D654Y|ENST00000520908,p.D146Y|ENST00000256935,p.D654Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jjm.3	nonsynonymous SNV	exon6	c.G436T	p.D146Y	GEEVVKFLQDTLDALFNIMMEHSQS	GEEVVKFLQDTLYALFNIMMEHSQS	7.0	6.0	unscreened	-	4234_5:169143235-169143235 G>T_GEEVVKFLQDTLYALFNIMMEHSQS
X:2778076-2778076 G>-	0.0	4234	LUNG	-	-	-	-	GYG2	NM_001184704,p.A114fs|NM_001184702,p.A269fs|uc004cqx.2,p.A300fs|uc004cqu.1,p.A269fs|ENST00000542787,p.A300fs|uc004cqw.1,p.A260fs|uc004cqv.1,p.A114fs|uc010ndc.1,p.A114fs|uc004cqt.1,p.A269fs|uc004cqs.1,p.A300fs|NM_001079855,p.A269fs|ENST00000381163,p.A300fs|ENST00000338623,p.A300fs|NM_001184703,p.A300fs|NM_003918,p.A300fs|ENST00000398806,p.A269fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ndc.1	frameshift deletion	exon3	c.342delG	p.A114fs	QNNVLPLYKSVQAGEARASPGHTLCH	QNNVLPLYKSVQAGKHARLLVTHFATVMWGGRVRIQPLVLESRVKIQHPVRACRVQIHHWVLTSLLRAFRSRPR	6.0	9.0	unscreened	-	4234_X:2778076-2778076 G>-_QNNVLPLYKSVQAGKHARLLVTHFATVMWGGRVRIQPLVLESRVKIQHPVRACRVQIHHWVLTSLLRAFRSRPR
4:120528282-120528282 C>A	1.0	4234	LUNG	-	-	-	-	PDE5A	ENST00000420633,p.R56L|ENST00000394439,p.R56L|NM_001083,p.R108L|NM_033430,p.R66L|uc003idf.3,p.R66L|uc003idg.3,p.R56L|NM_033437,p.R56L|uc003idh.3,p.R108L|ENST00000264805,p.R66L|ENST00000354960,p.R108L	retained_intron, protein_coding, processed_transcript	uc003idh.3	nonsynonymous SNV	exon2	c.G323T	p.R108L	TPTRKISASEFDRPLRPIVVKDSEG	TPTRKISASEFDLPLRPIVVKDSEG	6.0	4.0	-	-	4234_4:120528282-120528282 C>A_TPTRKISASEFDLPLRPIVVKDSEG
11:6239050-6239050 C>-	0.0	4234	LUNG	-	-	-	-	FAM160A2	ENST00000524416,p.G589fs|uc001mcm.2,p.G589fs|NM_001098794,p.G589fs|ENST00000265978,p.G603fs|ENST00000449352,p.G589fs|NM_032127,p.G603fs|uc001mcl.4,p.G589fs|uc001mck.4,p.G603fs	protein_coding, processed_transcript	uc001mcm.2	frameshift deletion	exon9	c.1766delG	p.G589fs	DGERPSPEPSPFGSRTKKRSLLPEED	DGERPSPEPSPFAPGLRNAAYCLRRTGTTWGKGRRKSWGGGGGLGVQGRALVTCPLPSSMECQDHGLRGPRRFVWCQRRELGNC	7.0	8.0	unscreened	-	4234_11:6239050-6239050 C>-_DGERPSPEPSPFAPGLRNAAYCLRRTGTTWGKGRRKSWGGGGGLGVQGRALVTCPLPSSMECQDHGLRGPRRFVWCQRRELGNC
14:24608783-24608783 C>G	1.0	4234	LUNG	-	-	-	-	EMC9	ENST00000560403,p.E32Q|NM_016049,p.E106Q|uc001wmi.3,p.E106Q|ENST00000419198,p.E106Q|ENST00000216799,p.E106Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wmi.3	nonsynonymous SNV	exon4	c.G316C	p.E106Q	GPLALKIAGRIAEFFPDAVLIMLDN	GPLALKIAGRIAQFFPDAVLIMLDN	8.0	9.0	-	-	4234_14:24608783-24608783 C>G_GPLALKIAGRIAQFFPDAVLIMLDN
11:76831781-76831781 G>T	1.0	4234	LUNG	-	-	-	-	CAPN5	ENST00000456580,p.R478L|uc001oxy.3,p.R478L|uc001oxx.3,p.R438L|uc009yup.3,p.R478L|ENST00000529629,p.R438L|ENST00000278559,p.R438L|NM_004055,p.R438L|uc009yuq.3,p.R474L	retained_intron, protein_coding	uc009yuq.3	nonsynonymous SNV	exon11	c.G1421T	p.R474L	FDIYKVEENRQYRMHSLQHKAASSI	FDIYKVEENRQYLMHSLQHKAASSI	8.0	2.0	-	-	4234_11:76831781-76831781 G>T_FDIYKVEENRQYLMHSLQHKAASSI
5:176798895-176798895 G>T	1.0	4234	LUNG	-	-	-	-	RGS14	ENST00000408923,p.R507L|uc003mgi.3,p.R278L|NM_006480,p.R507L|uc003mgf.3,p.R507L|uc003mgh.3,p.R508L	retained_intron, protein_coding, processed_transcript	uc003mgi.3	nonsynonymous SNV	exon8	c.G833T	p.R278L	TCDIEGLVELLNRVQSSGAHDQRGL	TCDIEGLVELLNLVQSSGAHDQRGL	9.0	6.0	-	-	4234_5:176798895-176798895 G>T_TCDIEGLVELLNLVQSSGAHDQRGL
11:9182268-9182268 C>G	1.0	4234	LUNG	-	-	-	-	DENND5A	ENST00000526707,p.V786L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000526707	nonsynonymous SNV	exon11	c.G2356C	p.V786L	DLLERIWSHGLQVKQEYFLIQNVGS	DLLERIWSHGLQLKQEYFLIQNVGS	9.0	9.0	-	-	4234_11:9182268-9182268 C>G_DLLERIWSHGLQLKQEYFLIQNVGS
1:12090179-12090179 C>T	1.0	4234	LUNG	-	-	-	-	MIIP	NM_021933,p.R314W|uc001ato.2,p.R314W|ENST00000235332,p.R314W	protein_coding, processed_transcript	uc001ato.2	nonsynonymous SNV	exon8	c.C940T	p.R314W	KSFDASDTLALPRHCLLGWDIFPPK	KSFDASDTLALPWHCLLGWDIFPPK	9.0	8.0	-	-	4234_1:12090179-12090179 C>T_KSFDASDTLALPWHCLLGWDIFPPK
3:110845105-110845105 A>G	1.0	4234	LUNG	-	-	-	-	PVRL3	NM_001243288,p.N308S|NM_015480,p.N331S|uc021xch.1,p.N331S|NM_001243286,p.N331S|ENST00000493615,p.N308S|ENST00000319792,p.N331S|uc003dxt.2,p.N331S|ENST00000485303,p.N331S|uc003dxu.2,p.N308S	protein_coding, processed_transcript	uc021xch.1	nonsynonymous SNV	exon5	c.A992G	p.N331S	DNTLHFVHPLTFNYSGVYICKVTNS	DNTLHFVHPLTFSYSGVYICKVTNS	6.0	1.0	-	-	4234_3:110845105-110845105 A>G_DNTLHFVHPLTFSYSGVYICKVTNS
21:44524456-44524456 G>A	1.0	4234	LUNG	-	-	ID=COSM166866,COSM1142948;OCCURENCE=3(urinary_tract),3(liver),4(pancreas),3(endometrium),14(lung),36(haematopoietic_and_lymphoid_tissue),1(stomach)	1	U2AF1	uc002zda.1,p.S34F|ENST00000291552,p.S34F|NM_001025203,p.S34F|uc010gpi.1,p.S34F|ENST00000464750,p.S34F|uc002zdc.1,p.S34F|uc002zdb.1,p.S34F|NM_006758,p.S34F|ENST00000380276,p.S34F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010gpi.1	nonsynonymous SNV	exon2	c.C101T	p.S34F	FKIGACRHGDRCSRLHNKPTFSQTI	FKIGACRHGDRCFRLHNKPTFSQTI	9.0	3.0	CD8	-	4234_21:44524456-44524456 G>A_FKIGACRHGDRCFRLHNKPTFSQTI
11:118355021-118355021 G>A	0.0	4234	LUNG	-	-	-	1	KMT2A	ENST00000354520,p.D1404N|ENST00000392873,p.D154N	retained_intron, protein_coding, processed_transcript	ENST00000392873	nonsynonymous SNV	exon3	c.G460A	p.D154N	KIPADGVHRIRVDFKFVYCQVCCEP	KIPADGVHRIRVNFKFVYCQVCCEP	8.0	2.0	-	-	4234_11:118355021-118355021 G>A_KIPADGVHRIRVNFKFVYCQVCCEP
12:7303252-7303252 T>A	1.0	4234	LUNG	-	-	-	-	CLSTN3	ENST00000266546,p.N786K|ENST00000537408,p.N798K|NM_014718,p.N786K|uc001qss.3,p.N798K|uc001qsr.3,p.N786K	retained_intron, protein_coding, processed_transcript	uc001qss.3	nonsynonymous SNV	exon14	c.T2394A	p.N798K	YTRKFRLSCSEMNGRYSSNEFIVEV	YTRKFRLSCSEMKGRYSSNEFIVEV	10.0	3.0	-	-	4234_12:7303252-7303252 T>A_YTRKFRLSCSEMKGRYSSNEFIVEV
14:90755185-90755185 C>A	0.0	4234	LUNG	-	-	-	-	NRDE2	uc001xyi.2,p.R845L|NM_017970,p.R845L|ENST00000354366,p.R845L|uc010atp.1,p.R350L|ENST00000357904,p.R614L|uc001xyj.2,p.R614L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010atp.1	nonsynonymous SNV	exon7	c.G1049T	p.R350L	ELSPEVRRAATARAVHILTKLTESS	ELSPEVRRAATALAVHILTKLTESS	9.0	4.0	-	-	4234_14:90755185-90755185 C>A_ELSPEVRRAATALAVHILTKLTESS
16:1733515-1733515 G>T	1.0	4234	LUNG	-	-	-	-	HN1L	uc010uvj.2,p.W17L|uc010uvi.2,p.W17L|ENST00000569765,p.W17L|ENST00000566925,p.W17L|ENST00000562684,p.W17L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uvj.2	nonsynonymous SNV	exon2	c.G50T	p.W17L	PDSEGGRAGSRKWQLLTGSLASTSP	PDSEGGRAGSRKLQLLTGSLASTSP	9.0	10.0	-	-	4234_16:1733515-1733515 G>T_PDSEGGRAGSRKLQLLTGSLASTSP
8:61741231-61741231 G>T	0.0	4234	LUNG	-	-	-	-	CHD7	NM_017780,p.V1130L|ENST00000423902,p.V1130L|uc003xue.3,p.V1130L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xue.3	nonsynonymous SNV	exon14	c.G3388T	p.V1130L	LEGLKMMDLEHKVLLTGTPLQNTVE	LEGLKMMDLEHKLLLTGTPLQNTVE	9.0	4.0	-	-	4234_8:61741231-61741231 G>T_LEGLKMMDLEHKLLLTGTPLQNTVE
X:3239807-3239807 G>A	1.0	4234	LUNG	-	-	-	-	MXRA5	ENST00000217939,p.P1307S|uc004crg.4,p.P1307S|NM_015419,p.P1307S	protein_coding	uc004crg.4	nonsynonymous SNV	exon5	c.C3919T	p.P1307S	YMTTTRKIYSSYPKVQETLPVTYKP	YMTTTRKIYSSYSKVQETLPVTYKP	8.0	2.0	-	-	4234_X:3239807-3239807 G>A_YMTTTRKIYSSYSKVQETLPVTYKP
19:13035067-13035067 C>A	1.0	4234	LUNG	-	-	-	-	FARSA	ENST00000423140,p.W398L|ENST00000314606,p.W429L|uc010xmv.1,p.W398L|uc002mvs.2,p.W429L|ENST00000588025,p.W469L|NM_004461,p.W429L	retained_intron, protein_coding, nonsense_mediated_decay	uc010xmv.1	nonsynonymous SNV	exon11	c.G1193T	p.W398L	MEVFSYHQGLKKWVEVGNSGVFRPE	MEVFSYHQGLKKLVEVGNSGVFRPE	10.0	1.0	-	-	4234_19:13035067-13035067 C>A_MEVFSYHQGLKKLVEVGNSGVFRPE
16:22237253-22237253 G>T	1.0	4234	LUNG	-	-	-	-	EEF2K	ENST00000263026,p.R68L|ENST00000568269,p.R68L|uc002dki.3,p.R68L|NM_013302,p.R68L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dki.3	nonsynonymous SNV	exon2	c.G203T	p.R68L	VNKYYSNLTKSERYSSSGSPANSFH	VNKYYSNLTKSELYSSSGSPANSFH	8.0	10.0	-	-	4234_16:22237253-22237253 G>T_VNKYYSNLTKSELYSSSGSPANSFH
1:79383671-79383671 C>A	0.0	4234	LUNG	-	-	-	-	ELTD1	ENST00000370742,p.C509F|uc001diq.4,p.C509F|NM_022159,p.C509F	protein_coding	uc001diq.4	nonsynonymous SNV	exon11	c.G1526T	p.C509F	LHYFFLAAFAWMCIEGIHLYLIVVG	LHYFFLAAFAWMFIEGIHLYLIVVG	7.0	8.0	unscreened	-	4234_1:79383671-79383671 C>A_LHYFFLAAFAWMFIEGIHLYLIVVG
2:113513797-113513797 C>G	1.0	4234	LUNG	-	-	-	-	CKAP2L	uc010yxp.1,p.G219A|uc002tie.2,p.G384A|NM_152515,p.G384A|uc010yxq.1,p.G219A|ENST00000541405,p.G219A|ENST00000302450,p.G384A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yxq.1	nonsynonymous SNV	exon3	c.G656C	p.G219A	SKAISQRPNLTVGRFNSAIPSTPSI	SKAISQRPNLTVARFNSAIPSTPSI	7.0	8.0	-	-	4234_2:113513797-113513797 C>G_SKAISQRPNLTVARFNSAIPSTPSI
15:82450145-82450145 C>A	1.0	4234	LUNG	-	-	-	-	EFTUD1	ENST00000359445,p.V596F|uc002bgu.1,p.V596F|NM_024580,p.V647F|ENST00000268206,p.V647F|NM_001040610,p.V596F|uc002bgt.1,p.V647F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bgu.1	nonsynonymous SNV	exon15	c.G1786T	p.V596F	KGMKLLNQADPCVQILIQETGEHVL	KGMKLLNQADPCFQILIQETGEHVL	6.0	1.0	-	-	4234_15:82450145-82450145 C>A_KGMKLLNQADPCFQILIQETGEHVL
1:222742860-222742860 C>A	1.0	4234	LUNG	-	-	-	-	TAF1A	uc010pur.2,p.V296L|ENST00000543857,p.V296L	protein_coding, processed_transcript	uc010pur.2	nonsynonymous SNV	exon7	c.G886T	p.V296L	KRQKAPRSKLISVLKHLQKISIMYS	KRQKAPRSKLISLLKHLQKISIMYS	7.0	1.0	-	-	4234_1:222742860-222742860 C>A_KRQKAPRSKLISLLKHLQKISIMYS
9:21971194-21971194 C>A	0.0	4234	LUNG	-	-	-	1	CDKN2A	ENST00000498124,p.G55V|ENST00000579122,p.G55V|ENST00000446177,p.G55V|ENST00000304494,p.G55V|uc010miu.3,p.G55V|NM_001195132,p.G55V|uc003zpk.3,p.G55V|NM_000077,p.G55V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010miu.3	nonsynonymous SNV	exon2	c.G164T	p.G55V	SYGRRPIQVMMMGSARVAELLLLHG	SYGRRPIQVMMMVSARVAELLLLHG	7.0	10.0	unscreened	-	4234_9:21971194-21971194 C>A_SYGRRPIQVMMMVSARVAELLLLHG
11:9182268-9182268 C>G	1.0	4234	LUNG	-	-	-	-	DENND5A	uc010rbw.2,p.V810L|uc001mhk.3,p.V153L|ENST00000527700,p.V153L|ENST00000530044,p.V810L|NM_001243254,p.V810L|NM_015213,p.V810L|ENST00000328194,p.V810L|uc001mhl.3,p.V810L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rbw.2	nonsynonymous SNV	exon12	c.G2428C	p.V810L	DLLERIWSHGLQVKQGKSALWSHLL	DLLERIWSHGLQLKQGKSALWSHLL	9.0	9.0	-	-	4234_11:9182268-9182268 C>G_DLLERIWSHGLQLKQGKSALWSHLL
12:101685782-101685782 C>A	0.0	4234	LUNG	-	-	-	-	UTP20	uc001tia.1,p.S358Y|NM_014503,p.S358Y|ENST00000261637,p.S358Y	retained_intron, protein_coding	uc001tia.1	nonsynonymous SNV	exon10	c.C1073A	p.S358Y	KVLSQTLQVASLSTSCWETLLDVIS	KVLSQTLQVASLYTSCWETLLDVIS	7.0	9.0	unscreened	-	4234_12:101685782-101685782 C>A_KVLSQTLQVASLYTSCWETLLDVIS
7:127343243-127343243 G>T	1.0	4234	LUNG	-	-	-	1	SND1	ENST00000354725,p.D236Y|NM_014390,p.D236Y|uc003vmi.3,p.D236Y	retained_intron, protein_coding, processed_transcript	uc003vmi.3	nonsynonymous SNV	exon7	c.G706T	p.D236Y	SGIKCPTFRREADGSETPEPFAAEA	SGIKCPTFRREAYGSETPEPFAAEA	10.0	3.0	-	-	4234_7:127343243-127343243 G>T_SGIKCPTFRREAYGSETPEPFAAEA
17:33690684-33690684 C>T	1.0	4234	LUNG	-	-	-	-	SLFN11	ENST00000588579,p.R48Q|uc010ctp.3,p.R48Q|NM_001104588,p.R48Q|NM_001104589,p.R48Q|uc002hjg.4,p.R48Q|NM_152270,p.R48Q|ENST00000591682,p.R48Q|uc002hjh.4,p.R48Q|ENST00000589811,p.R48Q|ENST00000394566,p.R48Q|ENST00000441608,p.R48Q|ENST00000427966,p.R48Q|ENST00000430814,p.R48Q|uc010ctr.3,p.R48Q|NM_001104587,p.R48Q|NM_001104590,p.R48Q|ENST00000308377,p.R48Q|uc010ctq.3,p.R48Q	retained_intron, protein_coding	uc010ctr.3	nonsynonymous SNV	exon3	c.G143A	p.R48Q	KIQRDQEKERVMRAACALLNSGGGV	KIQRDQEKERVMQAACALLNSGGGV	9.0	5.0	CD8	-	4234_17:33690684-33690684 C>T_KIQRDQEKERVMQAACALLNSGGGV
1:211751753-211751753 G>C	1.0	4234	LUNG	-	-	-	-	SLC30A1	NM_021194,p.Q68E|ENST00000367001,p.Q68E|uc001hio.1,p.Q68E	protein_coding	uc001hio.1	nonsynonymous SNV	exon1	c.C202G	p.Q68E	VAERFARRTHATQKNTFGWIRAEVM	VAERFARRTHATEKNTFGWIRAEVM	7.0	7.0	-	-	4234_1:211751753-211751753 G>C_VAERFARRTHATEKNTFGWIRAEVM
5:110836639-110836639 C>A	0.0	4234	LUNG	-	-	-	-	STARD4	uc003kpj.2,p.G153V|ENST00000502322,p.G153V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003kpj.2	nonsynonymous SNV	exon5	c.G458T	p.G153V	FFSVWFKYLCFLGWMSLSL	FFSVWFKYLCFLVWMSLSL	8.0	7.0	-	-	4234_5:110836639-110836639 C>A_FFSVWFKYLCFLVWMSLSL
1:174517032-174517032 G>T	1.0	4234	LUNG	-	-	-	-	RABGAP1L	uc001gjw.3,p.G553W|ENST00000357444,p.G553W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001gjw.3	nonsynonymous SNV	exon14	c.G1657T	p.G553W	TPRQTIHLVKYEGSMKVSMTPCNQL	TPRQTIHLVKYEWSMKVSMTPCNQL	8.0	8.0	-	-	4234_1:174517032-174517032 G>T_TPRQTIHLVKYEWSMKVSMTPCNQL
17:26488292-26488292 G>T	0.0	4234	LUNG	-	-	-	-	NLK	ENST00000407008,p.G251C|ENST00000496808,p.G199C|uc010crj.3,p.G251C|NM_016231,p.G251C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010crj.3	nonsynonymous SNV	exon4	c.G751T	p.G251C	DHVKVFLYQILRGLKYLHSAGILHR	DHVKVFLYQILRCLKYLHSAGILHR	7.0	4.0	unscreened	-	4234_17:26488292-26488292 G>T_DHVKVFLYQILRCLKYLHSAGILHR
8:29989668-29989668 C>T	0.0	4234	LUNG	-	-	-	-	MBOAT4	ENST00000320542,p.E367K|NM_001100916,p.E367K|uc010lvg.3,p.E367K	protein_coding, nonsense_mediated_decay	uc010lvg.3	nonsynonymous SNV	exon3	c.G1099A	p.E367K	VEADYLIHSFANEFIRSWPMRLFYR	VEADYLIHSFANKFIRSWPMRLFYR	10.0	4.0	-	-	4234_8:29989668-29989668 C>T_VEADYLIHSFANKFIRSWPMRLFYR
4:104115831-104115831 T>A	0.0	4234	LUNG	-	-	-	-	CENPE	ENST00000514974,p.Y123F	retained_intron, protein_coding, processed_transcript	ENST00000514974	nonsynonymous SNV	exon5	c.A368T	p.Y123F	HDIFQKIKKRNVYVADLTEEVVYTS	HDIFQKIKKRNVFVADLTEEVVYTS	7.0	5.0	unscreened	-	4234_4:104115831-104115831 T>A_HDIFQKIKKRNVFVADLTEEVVYTS
18:22804971-22804971 G>T	0.0	4234	LUNG	-	-	-	1	ZNF521	ENST00000361524,p.L971I|uc010dly.2,p.L971I|uc002kvk.2,p.L971I|ENST00000584787,p.L751I|ENST00000399425,p.L971I|ENST00000538137,p.L971I|uc002kvl.2,p.L751I|NM_015461,p.L971I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dly.2	nonsynonymous SNV	exon4	c.C2911A	p.L971I	YMCPICGERFPSLLTLTEHKVTHSK	YMCPICGERFPSILTLTEHKVTHSK	7.0	1.0	unscreened	-	4234_18:22804971-22804971 G>T_YMCPICGERFPSILTLTEHKVTHSK
10:121436513-121436513 G>T	1.0	4234	LUNG	-	-	-	-	BAG3	uc001lel.3,p.G482C|uc001lem.3,p.G483C|NM_004281,p.G483C|ENST00000369085,p.G483C	protein_coding	uc001lem.3	nonsynonymous SNV	exon4	c.G1447T	p.G483C	EGRADVRQARRDGVRKVQTILEKLE	EGRADVRQARRDCVRKVQTILEKLE	8.0	10.0	-	-	4234_10:121436513-121436513 G>T_EGRADVRQARRDCVRKVQTILEKLE
12:30827609-30827609 C>A	0.0	4234	LUNG	-	-	-	-	IPO8	ENST00000544829,p.A65S|NM_001190995,p.A65S|uc010sjt.2,p.A65S|ENST00000256079,p.A270S|ENST00000542464,p.A84S|uc001rjd.3,p.A270S|NM_006390,p.A270S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010sjt.2	nonsynonymous SNV	exon3	c.G193T	p.A65S	WWKCKKWALHIVARLFERYGSPGNV	WWKCKKWALHIVSRLFERYGSPGNV	8.0	10.0	-	-	4234_12:30827609-30827609 C>A_WWKCKKWALHIVSRLFERYGSPGNV
2:65318184-65318184 C>G	1.0	4234	LUNG	-	-	-	-	RAB1A	NM_004161,p.R74P|uc002sdm.3,p.R74P|ENST00000409784,p.R74P	protein_coding, processed_transcript	uc002sdm.3	nonsynonymous SNV	exon4	c.G221C	p.R74P	LQIWDTAGQERFRTITSSYYRGAHG	LQIWDTAGQERFPTITSSYYRGAHG	9.0	7.0	-	-	4234_2:65318184-65318184 C>G_LQIWDTAGQERFPTITSSYYRGAHG
2:65318184-65318184 C>G	1.0	4234	LUNG	-	-	-	-	RAB1A	ENST00000409751,p.R42P	protein_coding, processed_transcript	ENST00000409751	nonsynonymous SNV	exon3	c.G125C	p.R42P	RFAWDTAGQERFRTITSSYYRGAHG	RFAWDTAGQERFPTITSSYYRGAHG	9.0	7.0	-	-	4234_2:65318184-65318184 C>G_RFAWDTAGQERFPTITSSYYRGAHG
7:134632356-134632357 GG>-	1.0	4234	LUNG	-	-	-	-	CALD1	uc003vry.3,p.G289fs|ENST00000422748,p.G315fs|uc003vrz.3,p.G544fs|NM_033138,p.G544fs|uc003vsc.3,p.G309fs|ENST00000436461,p.G289fs|uc003vsd.3,p.G283fs|NM_033140,p.G283fs|ENST00000424922,p.G283fs|uc010lmm.3,p.G315fs|ENST00000443197,p.G283fs|NM_033157,p.G315fs|ENST00000393118,p.G309fs|ENST00000361675,p.G544fs|ENST00000361388,p.G315fs|uc003vsb.3,p.G289fs|ENST00000495522,p.G309fs|NM_033139,p.G309fs|ENST00000543443,p.G294fs|uc011kpv.2,p.G153fs|uc003vse.3,p.G408fs|ENST00000361901,p.G289fs|uc011kpt.2,p.G63fs|ENST00000417172,p.G289fs|NM_004342,p.G289fs|uc011kpu.2,p.G294fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kpv.2	frameshift deletion	exon4	c.457_458del	p.G153fs	AGKRLEELRRRRGETESEEFEKLKQK	AGKRLEELRRRRGDRERRVREAQTEAAGGGFGAGGTQEKEGGEKEGPGGGRAEEEAGGSRSKTQRGGREEEAKGRD	9.0	5.0	-	-	4234_7:134632356-134632357 GG>-_AGKRLEELRRRRGDRERRVREAQTEAAGGGFGAGGTQEKEGGEKEGPGGGRAEEEAGGSRSKTQRGGREEEAKGRD
22:39477094-39477094 G>A	1.0	4234	LUNG	-	-	-	-	APOBEC3G	ENST00000452957,p.E110K|uc003awx.3,p.E110K|uc021wpr.1,p.E110K|uc003awy.3,p.E43K|ENST00000407997,p.E110K|NM_021822,p.E110K	retained_intron, protein_coding, processed_transcript	uc021wpr.1	nonsynonymous SNV	exon3	c.G328A	p.E110K	TKCTRDMATFLAEDPKVTLTIFVAR	TKCTRDMATFLAKDPKVTLTIFVAR	10.0	5.0	-	-	4234_22:39477094-39477094 G>A_TKCTRDMATFLAKDPKVTLTIFVAR
4:187539783-187539783 C>A	1.0	4234	LUNG	-	-	-	1	FAT1	uc003izf.3,p.G2653C|ENST00000441802,p.G2653C|NM_005245,p.G2653C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003izf.3	nonsynonymous SNV	exon10	c.G7957T	p.G2653C	SVKENLEINKLSGVITTKESLIGLE	SVKENLEINKLSCVITTKESLIGLE	10.0	7.0	-	-	4234_4:187539783-187539783 C>A_SVKENLEINKLSCVITTKESLIGLE
2:37586793-37586793 C>T	1.0	4234	LUNG	-	-	-	-	QPCT	ENST00000537448,p.T64I|NM_012413,p.T113I|ENST00000404976,p.T64I|ENST00000338415,p.T113I|uc002rqg.3,p.T113I	retained_intron, protein_coding	uc002rqg.3	nonsynonymous SNV	exon3	c.C338T	p.T113I	DWVLEIDTFLSQTPYGYRSFSNIIS	DWVLEIDTFLSQIPYGYRSFSNIIS	10.0	9.0	-	-	4234_2:37586793-37586793 C>T_DWVLEIDTFLSQIPYGYRSFSNIIS
1:1464661-1464661 A>T	1.0	4234	LUNG	-	-	-	-	ATAD3A	NM_018188,p.T570S|uc001aga.2,p.T522S|ENST00000378755,p.T570S|uc001agb.2,p.T443S|ENST00000536055,p.T443S|ENST00000378756,p.T522S|ENST00000400830,p.T185S|uc001afz.2,p.T570S|NM_001170535,p.T522S|NM_001170536,p.T443S	retained_intron, protein_coding	uc001agb.2	nonsynonymous SNV	exon15	c.A1327T	p.T443S	DYGRKCSEVARLTEGMSGREIAQLA	DYGRKCSEVARLSEGMSGREIAQLA	9.0	4.0	-	-	4234_1:1464661-1464661 A>T_DYGRKCSEVARLSEGMSGREIAQLA
20:376999-376999 G>T	1.0	4234	LUNG	-	-	-	-	TRIB3	ENST00000422053,p.G275C|uc002wdm.3,p.G248C|uc002wdn.3,p.G275C|NM_001301196,p.G248C|ENST00000449710,p.G248C|ENST00000217233,p.G248C|NM_001301190,p.G248C|NM_001301201,p.G275C|NM_001301188,p.G248C|NM_001301193,p.G248C|NM_021158,p.G248C	protein_coding, processed_transcript	uc002wdn.3	nonsynonymous SNV	exon5	c.G823T	p.G275C	SYSGKAADVWSLGVALFTMLAGHYP	SYSGKAADVWSLCVALFTMLAGHYP	8.0	6.0	-	-	4234_20:376999-376999 G>T_SYSGKAADVWSLCVALFTMLAGHYP
12:132510329-132510329 C>T	0.0	4234	LUNG	-	-	-	-	EP400	ENST00000332482,p.P1628L|ENST00000333577,p.P1701L|NM_015409,p.P1665L|ENST00000389561,p.P1665L|uc001ujm.3,p.P1584L|ENST00000330386,p.P1584L|uc001ujn.3,p.P1665L|ENST00000389562,p.P1664L	protein_coding, processed_transcript	uc001ujn.3	nonsynonymous SNV	exon25	c.C4994T	p.P1665L	ALGSKPPAGGPSPAPLTPQVGVPGR	ALGSKPPAGGPSLAPLTPQVGVPGR	6.0	8.0	unscreened	-	4234_12:132510329-132510329 C>T_ALGSKPPAGGPSLAPLTPQVGVPGR
7:98546307-98546307 T>C	0.0	4234	LUNG	-	-	-	1	TRRAP	NM_001244580,p.M1589T|ENST00000359863,p.M1589T|ENST00000355540,p.M1571T|NM_003496,p.M1571T|uc011kis.2,p.M1571T|uc003upp.3,p.M1589T|uc003upr.3,p.M1288T|ENST00000446306,p.M1570T	retained_intron, protein_coding	uc011kis.2	nonsynonymous SNV	exon33	c.T4712C	p.M1571T	ATLNDPQWSRMFMSFLKHKDARPLR	ATLNDPQWSRMFTSFLKHKDARPLR	6.0	2.0	unscreened	-	4234_7:98546307-98546307 T>C_ATLNDPQWSRMFTSFLKHKDARPLR
14:64516444-64516444 C>T	0.0	4234	LUNG	-	-	-	-	SYNE2	uc021ruh.1,p.A2531V|ENST00000554584,p.A2531V|NM_182914,p.A2498V|ENST00000344113,p.A2498V|ENST00000358025,p.A2498V|uc001xgl.3,p.A2498V|uc001xgm.3,p.A2498V|NM_015180,p.A2498V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ruh.1	nonsynonymous SNV	exon47	c.C7592T	p.A2531V	TGALVLHNIGYSAQHLDNLLQALIT	TGALVLHNIGYSVQHLDNLLQALIT	8.0	7.0	unscreened	-	4234_14:64516444-64516444 C>T_TGALVLHNIGYSVQHLDNLLQALIT
5:37183520-37183520 T>G	0.0	4234	LUNG	-	-	-	-	C5orf42	uc011cpa.1,p.E1588A|ENST00000508244,p.E1588A|ENST00000425232,p.E1588A|NM_023073,p.E1588A|uc011cpb.1,p.E469A|ENST00000509849,p.E593A|uc011coz.1,p.E663A|ENST00000514429,p.E636A|ENST00000274258,p.E469A|uc011coy.1,p.E89A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cpb.1	nonsynonymous SNV	exon12	c.A1406C	p.E469A	FLTSFSGKLREHELNSLLFDVHTTL	FLTSFSGKLREHALNSLLFDVHTTL	8.0	2.0	unscreened	-	4234_5:37183520-37183520 T>G_FLTSFSGKLREHALNSLLFDVHTTL
4:104115831-104115831 T>A	0.0	4234	LUNG	-	-	-	-	CENPE	NM_001813,p.Y163F|NM_001286734,p.Y163F|ENST00000503705,p.Y163F|ENST00000380026,p.Y163F|uc003hxc.1,p.Y163F|uc003hxb.1,p.Y163F|ENST00000265148,p.Y163F	retained_intron, protein_coding, processed_transcript	uc003hxc.1	nonsynonymous SNV	exon6	c.A488T	p.Y163F	PLIIREDVNRNVYVADLTEEVVYTS	PLIIREDVNRNVFVADLTEEVVYTS	7.0	5.0	unscreened	-	4234_4:104115831-104115831 T>A_PLIIREDVNRNVFVADLTEEVVYTS
3:14965551-14965551 C>T	0.0	4234	LUNG	-	-	-	-	FGD5	NM_152536,p.P1325L|uc003bzd.3,p.P403L|uc003bzc.3,p.P1325L|uc011avk.2,p.P1325L|ENST00000543601,p.P1084L|ENST00000285046,p.P1325L	retained_intron, protein_coding, processed_transcript	uc011avk.2	nonsynonymous SNV	exon17	c.C3974T	p.P1325L	ERPVSMSFPLSSPRFSGSAFSSVFQ	ERPVSMSFPLSSLRFSGSAFSSVFQ	6.0	10.0	unscreened	-	4234_3:14965551-14965551 C>T_ERPVSMSFPLSSLRFSGSAFSSVFQ
1:52549121-52549121 C>A	1.0	4234	LUNG	-	-	-	-	BTF3L4	uc001ctl.3,p.P35Q|ENST00000313334,p.P93Q|NM_001136497,p.P35Q|NM_152265,p.P93Q|ENST00000484036,p.P93Q|uc001ctk.3,p.P93Q|ENST00000472944,p.P35Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ctl.3	nonsynonymous SNV	exon3	c.C104A	p.P35Q	NTFAITGHAEAKPITEMLPGILSQL	NTFAITGHAEAKQITEMLPGILSQL	9.0	4.0	-	-	4234_1:52549121-52549121 C>A_NTFAITGHAEAKQITEMLPGILSQL
17:30500899-30500899 A>T	1.0	4234	LUNG	-	-	-	-	RHOT1	ENST00000581031,p.E49V|NM_001033566,p.E49V|uc002hgy.3,p.E49V|NM_001288755,p.E28V|NM_018307,p.E49V|ENST00000394692,p.E49V|uc002hgv.3,p.E49V|NM_001288754,p.E49V|uc002hhb.3,p.E28V|uc010wby.2,p.E49V|NM_001033568,p.E49V|ENST00000354266,p.E28V|ENST00000581094,p.E49V|ENST00000358365,p.E49V|ENST00000545287,p.E49V|ENST00000333942,p.E49V|uc002hgw.3,p.E49V|uc002hgz.3,p.E49V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wby.2	nonsynonymous SNV	exon3	c.A146T	p.E49V	AEEITIPADVTPERVPTHIVDYSEA	AEEITIPADVTPVRVPTHIVDYSEA	9.0	9.0	-	-	4234_17:30500899-30500899 A>T_AEEITIPADVTPVRVPTHIVDYSEA
12:101685757-101685757 C>G	0.0	4234	LUNG	-	-	-	-	UTP20	NM_014503,p.Q350E|uc001tia.1,p.Q350E|ENST00000261637,p.Q350E	retained_intron, protein_coding	uc001tia.1	nonsynonymous SNV	exon10	c.C1048G	p.Q350E	IPTPADVCKVLSQTLQVASLSTSCW	IPTPADVCKVLSETLQVASLSTSCW	7.0	9.0	unscreened	-	4234_12:101685757-101685757 C>G_IPTPADVCKVLSETLQVASLSTSCW
1:167944159-167944159 C>T	1.0	4234	LUNG	-	-	-	-	DCAF6	NM_001198956,p.S115F|ENST00000432587,p.S84F|ENST00000367840,p.S115F|ENST00000470721,p.S115F|NM_018442,p.S115F|NM_001017977,p.S115F|uc001gev.3,p.S115F|uc001gex.3,p.S115F|uc001gew.3,p.S115F|uc010plk.2,p.S84F|ENST00000367843,p.S115F|ENST00000312263,p.S115F|NM_001198957,p.S84F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010plk.2	nonsynonymous SNV	exon3	c.C251T	p.S84F	LPCTNDKQIVSCSGDGVIFYTNVEQ	LPCTNDKQIVSCFGDGVIFYTNVEQ	9.0	8.0	-	-	4234_1:167944159-167944159 C>T_LPCTNDKQIVSCFGDGVIFYTNVEQ
14:91766396-91766396 C>G	1.0	4234	LUNG	-	-	-	-	CCDC88C	ENST00000389857,p.K1218N|NM_001080414,p.K1218N|uc010aty.3,p.K1218N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010aty.3	nonsynonymous SNV	exon21	c.G3654C	p.K1218N	HKELGERHGDMLKRKAELEEREKVL	HKELGERHGDMLNRKAELEEREKVL	9.0	10.0	-	-	4234_14:91766396-91766396 C>G_HKELGERHGDMLNRKAELEEREKVL
11:58384671-58384671 G>A	1.0	4234	LUNG	-	-	ID=COSM543754,COSM543755;OCCURENCE=1(lung)	-	ZFP91	ENST00000316059,p.C402Y|ENST00000389919,p.C402Y|uc001nmy.4,p.C401Y|NM_053023,p.C402Y|uc001nmx.4,p.C402Y|ENST00000422974,p.C229Y|NM_001197051,p.C401Y	protein_coding	uc001nmy.4	nonsynonymous SNV	exon11	c.G1202A	p.C401Y	HRMIHTGEKPLQCEICGFTCRQKAS	HRMIHTGEKPLQYEICGFTCRQKAS	8.0	1.0	-	-	4234_11:58384671-58384671 G>A_HRMIHTGEKPLQYEICGFTCRQKAS
9:140086742-140086742 C>A	1.0	4234	LUNG	-	-	-	-	TPRN	uc004clu.3,p.R681M|ENST00000409012,p.R681M|NM_001128228,p.R681M	retained_intron, protein_coding, processed_transcript	uc004clu.3	nonsynonymous SNV	exon3	c.G2042T	p.R681M	SKWQEQALEQAPREAEPPPVEAMLT	SKWQEQALEQAPMEAEPPPVEAMLT	8.0	3.0	-	-	4234_9:140086742-140086742 C>A_SKWQEQALEQAPMEAEPPPVEAMLT
4:36109278-36109278 C>A	1.0	4234	LUNG	-	-	-	-	ARAP2	NM_015230,p.Q1398H|ENST00000303965,p.Q1398H|uc003gsq.2,p.Q1398H	retained_intron, protein_coding, processed_transcript	uc003gsq.2	nonsynonymous SNV	exon27	c.G4194T	p.Q1398H	ERPLHYKENVLEQVLRWSSLAEPGS	ERPLHYKENVLEHVLRWSSLAEPGS	7.0	6.0	-	-	4234_4:36109278-36109278 C>A_ERPLHYKENVLEHVLRWSSLAEPGS
8:24256411-24256411 G>T	0.0	4234	LUNG	-	-	-	-	ADAMDEC1	uc011lab.1,p.V184L|ENST00000538205,p.V184L|uc003xdz.2,p.V263L|ENST00000256412,p.V263L|uc010lub.2,p.V184L|ENST00000522298,p.V184L|NM_014479,p.V263L|NM_001145272,p.V184L|NM_001145271,p.V184L	protein_coding, processed_transcript, nonsense_mediated_decay	uc011lab.1	nonsynonymous SNV	exon8	c.G550T	p.V184L	LLNVIYNTIDVQVALVGMEIWSDGD	LLNVIYNTIDVQLALVGMEIWSDGD	8.0	6.0	-	-	4234_8:24256411-24256411 G>T_LLNVIYNTIDVQLALVGMEIWSDGD
16:12798727-12798727 C>A	0.0	4234	LUNG	-	-	-	-	CPPED1	ENST00000381774,p.G157C|NM_018340,p.G157C|uc002dca.4,p.G157C	retained_intron, protein_coding	uc002dca.4	nonsynonymous SNV	exon3	c.G469T	p.G157C	TWGDDYFSFWVGGVLFLVLNSQFYE	TWGDDYFSFWVGCVLFLVLNSQFYE	7.0	9.0	unscreened	-	4234_16:12798727-12798727 C>A_TWGDDYFSFWVGCVLFLVLNSQFYE
9:140086742-140086742 C>A	1.0	4234	LUNG	-	-	-	-	TPRN	uc004clt.3,p.R681M|ENST00000321773,p.R620M|ENST00000333046,p.R479M	retained_intron, protein_coding, processed_transcript	uc004clt.3	nonsynonymous SNV	exon3	c.G2042T	p.R681M	SKWQEQALEQAPREAEPPPVEAMVR	SKWQEQALEQAPMEAEPPPVEAMVR	8.0	3.0	-	-	4234_9:140086742-140086742 C>A_SKWQEQALEQAPMEAEPPPVEAMVR
17:66364822-66364822 G>T	0.0	4234	LUNG	-	-	-	-	ARSG	uc002jhc.2,p.V280L|ENST00000452479,p.V116L|NM_014960,p.V280L|uc031ree.1,p.V280L|ENST00000448504,p.V280L|NM_001267727,p.V280L	retained_intron, protein_coding, processed_transcript	uc031ree.1	nonsynonymous SNV	exon7	c.G838T	p.V280L	LYGAGLWEMDSLVGQIKDKVDHTVK	LYGAGLWEMDSLLGQIKDKVDHTVK	6.0	6.0	unscreened	-	4234_17:66364822-66364822 G>T_LYGAGLWEMDSLLGQIKDKVDHTVK
5:126168443-126168443 G>A	1.0	4234	LUNG	-	-	-	-	LMNB1	ENST00000261366,p.E557K|uc003kud.2,p.E557K|NM_001198557,p.E347K|uc011cxb.2,p.E347K|NM_005573,p.E557K	retained_intron, protein_coding, processed_transcript	uc011cxb.2	nonsynonymous SNV	exon10	c.G1039A	p.E347K	VFKTTIPEEEEEEEEAAGVVVEEEL	VFKTTIPEEEEEKEEAAGVVVEEEL	9.0	9.0	-	-	4234_5:126168443-126168443 G>A_VFKTTIPEEEEEKEEAAGVVVEEEL
3:170928915-170928915 T>A	0.0	4234	LUNG	-	-	-	-	TNIK	uc003fhl.2,p.D99V|ENST00000475336,p.D99V|NM_001161560,p.D99V|uc003fhn.2,p.D99V|ENST00000538048,p.D99V|uc003fhk.2,p.D99V|uc003fhj.2,p.D99V|ENST00000436636,p.D99V|ENST00000284483,p.D99V|ENST00000488470,p.D99V|NM_001161565,p.D99V|NM_001161564,p.D99V|ENST00000470834,p.D99V|NM_001161563,p.D99V|NM_001161566,p.D99V|ENST00000460047,p.D99V|uc003fho.2,p.D99V|NM_015028,p.D99V|uc003fhm.2,p.D99V|NM_001161562,p.D99V|ENST00000468757,p.D73V|uc003fhi.2,p.D99V|uc003fhh.2,p.D99V|ENST00000357327,p.D99V|ENST00000369326,p.D99V|NM_001161561,p.D99V|ENST00000341852,p.D99V	retained_intron, protein_coding, processed_transcript	uc003fho.2	nonsynonymous SNV	exon4	c.A296T	p.D99V	GAFIKKNPPGMDDQLWLVMEFCGAG	GAFIKKNPPGMDVQLWLVMEFCGAG	8.0	3.0	-	-	4234_3:170928915-170928915 T>A_GAFIKKNPPGMDVQLWLVMEFCGAG
10:60272923-60272923 C>G	1.0	4234	LUNG	-	-	-	-	BICC1	ENST00000373886,p.P7R|uc001jki.1,p.P7R|NM_001080512,p.P7R	protein_coding, processed_transcript	uc001jki.1	nonsynonymous SNV	exon1	c.C20G	p.P7R	MAAQGEPGYLAAQSDPGSN	MAAQGERGYLAAQSDPGSN	8.0	10.0	-	-	4234_10:60272923-60272923 C>G_MAAQGERGYLAAQSDPGSN
6:47653667-47653667 G>T	0.0	4234	LUNG	-	-	-	-	GPR111	ENST00000371220,p.G23V|uc003oyz.1,p.G23V	protein_coding	uc003oyz.1	nonsynonymous SNV	exon1	c.G68T	p.G23V	LSSGLLPNSGRFGIVLSDEYQVVTS	LSSGLLPNSGRFVIVLSDEYQVVTS	6.0	10.0	unscreened	-	4234_6:47653667-47653667 G>T_LSSGLLPNSGRFVIVLSDEYQVVTS
12:120499597-120499597 G>T	1.0	4234	LUNG	-	-	-	-	CCDC64	uc001txk.2,p.Q243H|ENST00000397558,p.Q243H|NM_207311,p.Q243H|uc001txl.1,p.Q243H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001txl.1	nonsynonymous SNV	exon3	c.G729T	p.Q243H	REDFREKNSSTNQHIIRLESLQAEI	REDFREKNSSTNHHIIRLESLQAEI	7.0	8.0	-	-	4234_12:120499597-120499597 G>T_REDFREKNSSTNHHIIRLESLQAEI
19:45596732-45596732 C>T	1.0	4234	LUNG	-	-	-	-	PPP1R37	NM_019121,p.S50F|ENST00000221462,p.S50F|ENST00000544069,p.S50F|ENST00000421905,p.S50F|uc021uvs.1,p.S50F	retained_intron, protein_coding, processed_transcript	uc021uvs.1	nonsynonymous SNV	exon1	c.C149T	p.S50F	RLKAAAKRVTFPSDEDIVSGAVEPK	RLKAAAKRVTFPFDEDIVSGAVEPK	10.0	1.0	-	-	4234_19:45596732-45596732 C>T_RLKAAAKRVTFPFDEDIVSGAVEPK
1:109812650-109812650 G>T	0.0	4234	LUNG	-	-	-	-	CELSR2	uc001dxa.4,p.L2401F|NM_001408,p.L2401F|ENST00000271332,p.L2401F	protein_coding, processed_transcript	uc001dxa.4	nonsynonymous SNV	exon23	c.G7203T	p.L2401F	AALLLTFFFLTLLRILRSNQHGIRR	AALLLTFFFLTLFRILRSNQHGIRR	6.0	4.0	unscreened	-	4234_1:109812650-109812650 G>T_AALLLTFFFLTLFRILRSNQHGIRR
2:27445408-27445408 G>T	0.0	4234	LUNG	-	-	-	-	CAD	uc010eyw.3,p.G173W|NM_004341,p.G173W|uc002rji.3,p.G173W|ENST00000403525,p.G173W|ENST00000264705,p.G173W	retained_intron, protein_coding, processed_transcript	uc010eyw.3	nonsynonymous SNV	exon5	c.G517T	p.G173W	EVSIKTPRVFNTGGAPRILALDCGL	EVSIKTPRVFNTWGAPRILALDCGL	8.0	6.0	-	-	4234_2:27445408-27445408 G>T_EVSIKTPRVFNTWGAPRILALDCGL
6:131190717-131190717 T>A	1.0	4234	LUNG	-	-	-	-	EPB41L2	uc003qch.2,p.I865F|ENST00000368128,p.I865F|NM_001431,p.I865F|uc003qce.1,p.I243F|ENST00000337057,p.I865F|ENST00000524581,p.I243F|ENST00000529208,p.I795F|ENST00000527411,p.I795F	retained_intron, protein_coding, processed_transcript	uc003qch.2	nonsynonymous SNV	exon15	c.A2593T	p.I865F	VSHVDIDVLPQIICCSEPPVVKTEM	VSHVDIDVLPQIFCCSEPPVVKTEM	9.0	8.0	-	-	4234_6:131190717-131190717 T>A_VSHVDIDVLPQIFCCSEPPVVKTEM
12:9225057-9225057 G>T	0.0	4234	LUNG	-	-	-	-	A2M	uc009zgk.1,p.P1184Q|NM_000014,p.P1334Q|uc001qvk.1,p.P1334Q|ENST00000318602,p.P1334Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zgk.1	nonsynonymous SNV	exon30	c.C3551A	p.P1184Q	VYLQTSLKYNILPEKEEFPFALGVQ	VYLQTSLKYNILQEKEEFPFALGVQ	10.0	4.0	-	-	4234_12:9225057-9225057 G>T_VYLQTSLKYNILQEKEEFPFALGVQ
10:61868777-61868777 C>A	0.0	4234	LUNG	-	-	-	-	ANK3	uc001jlb.1,p.G513V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jlb.1	nonsynonymous SNV	exon28	c.G1538T	p.G513V	RFLVSFMVDARGGSMRGSRHHGMRI	RFLVSFMVDARGVSMRGSRHHGMRI	8.0	3.0	-	-	4234_10:61868777-61868777 C>A_RFLVSFMVDARGVSMRGSRHHGMRI
10:61868777-61868777 C>A	0.0	4234	LUNG	-	-	-	-	ANK3	NM_020987,p.G995V|uc001jkw.3,p.G129V|ENST00000373815,p.G120V|uc009xpa.3,p.G129V|NM_001204403,p.G989V|NM_001149,p.G129V|ENST00000373827,p.G989V|ENST00000355288,p.G129V|ENST00000280772,p.G995V|ENST00000503366,p.G996V|NM_001204404,p.G996V|uc010qih.2,p.G996V|uc001jkz.4,p.G989V|uc001jla.1,p.G61V|ENST00000513049,p.G120V|uc001jky.3,p.G995V|uc001jkx.3,p.G173V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qih.2	nonsynonymous SNV	exon28	c.G2987T	p.G996V	GFLVSFMVDARGGSMRGSRHHGMRI	GFLVSFMVDARGVSMRGSRHHGMRI	8.0	3.0	-	-	4234_10:61868777-61868777 C>A_GFLVSFMVDARGVSMRGSRHHGMRI
X:153041400-153041400 A>T	0.0	4234	LUNG	-	-	-	-	PLXNB3	ENST00000538776,p.K1140I|uc010nuk.2,p.K1510I|NM_005393,p.K1487I|NM_001163257,p.K1510I|ENST00000538966,p.K1510I|uc004fii.2,p.K1487I|ENST00000361971,p.K1487I|uc011mzd.2,p.K1140I	protein_coding, processed_transcript	uc011mzd.2	nonsynonymous SNV	exon26	c.A3419T	p.K1140I	YMLFRAIQYQVDKGPVDAVTGKAKR	YMLFRAIQYQVDIGPVDAVTGKAKR	8.0	4.0	-	-	4234_X:153041400-153041400 A>T_YMLFRAIQYQVDIGPVDAVTGKAKR
15:49170483-49170483 G>T	1.0	4234	LUNG	-	-	-	-	EID1	uc001zxc.1,p.S37I|ENST00000530028,p.S37I|NM_014335,p.S37I	protein_coding, processed_transcript	uc001zxc.1	nonsynonymous SNV	exon1	c.G110T	p.S37I	EGDLPQMEVGSGSRELSLRPSRSGA	EGDLPQMEVGSGIRELSLRPSRSGA	10.0	1.0	-	-	4234_15:49170483-49170483 G>T_EGDLPQMEVGSGIRELSLRPSRSGA
5:140574170-140574175 AGGCCG>-	0.0	4234	LUNG	-	rs111745700	ID=COSM1486391;OCCURENCE=2(breast)	-	PCDHB10	uc003lix.3,p.682_684del|NM_018930,p.682_684del|ENST00000239446,p.682_684del	protein_coding	uc003lix.3	nonframeshift deletion	exon1	c.2045_2050del	p.682_684del	YLPLPEAAPAQAQAEADLLTVYLVVA	YLPLPEAAPAQAQADLLTVYLVVAL	6.0	1.0	-	-	4234_5:140574170-140574175 AGGCCG>-_YLPLPEAAPAQAQADLLTVYLVVAL
3:101446263-101446263 G>T	0.0	4234	LUNG	-	-	-	-	CEP97	uc011bhf.1,p.G75C|ENST00000327230,p.G75C|NM_024548,p.G75C|uc003dvk.1,p.G75C|ENST00000341893,p.G75C|uc010hpm.1,p.G75C|ENST00000465011,p.G75C|ENST00000494050,p.G75C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bhf.1	nonsynonymous SNV	exon3	c.G223T	p.G75C	LSVANNRLVRMMGVAKLTLLRVLNL	LSVANNRLVRMMCVAKLTLLRVLNL	6.0	7.0	unscreened	-	4234_3:101446263-101446263 G>T_LSVANNRLVRMMCVAKLTLLRVLNL
11:118355021-118355021 G>A	0.0	4234	LUNG	-	-	-	1	KMT2A	NM_001197104,p.D1404N|NM_005933,p.D1404N|uc001ptb.3,p.D1404N|ENST00000534358,p.D1404N|ENST00000389506,p.D1404N|uc001pta.3,p.D1404N	retained_intron, protein_coding, processed_transcript	uc001ptb.3	nonsynonymous SNV	exon9	c.G4210A	p.D1404N	KIPADGVHRIRVDFKEDCEAENVWE	KIPADGVHRIRVNFKEDCEAENVWE	8.0	2.0	-	-	4234_11:118355021-118355021 G>A_KIPADGVHRIRVNFKEDCEAENVWE
X:153039530-153039530 C>T	0.0	4234	LUNG	-	-	-	-	PLXNB3	ENST00000538282,p.P776S|ENST00000538776,p.P819S|NM_001163257,p.P1189S|uc010nuk.2,p.P1189S|uc004fii.2,p.P1166S|ENST00000538966,p.P1189S|NM_005393,p.P1166S|uc011mzd.2,p.P819S|ENST00000361971,p.P1166S	protein_coding, processed_transcript	uc011mzd.2	nonsynonymous SNV	exon19	c.C2455T	p.P819S	SREGPARPYRLKPGHVLDVEGEGLN	SREGPARPYRLKSGHVLDVEGEGLN	8.0	3.0	-	-	4234_X:153039530-153039530 C>T_SREGPARPYRLKSGHVLDVEGEGLN
1:79383653-79383653 A>T	0.0	4234	LUNG	-	-	-	-	ELTD1	NM_022159,p.L515H|ENST00000370742,p.L515H|uc001diq.4,p.L515H	protein_coding	uc001diq.4	nonsynonymous SNV	exon11	c.T1544A	p.L515H	AAFAWMCIEGIHLYLIVVGVIYNKG	AAFAWMCIEGIHHYLIVVGVIYNKG	7.0	7.0	unscreened	-	4234_1:79383653-79383653 A>T_AAFAWMCIEGIHHYLIVVGVIYNKG
12:101685788-101685788 C>G	0.0	4234	LUNG	-	-	-	-	UTP20	uc001tia.1,p.S360C|ENST00000261637,p.S360C|NM_014503,p.S360C	retained_intron, protein_coding	uc001tia.1	nonsynonymous SNV	exon10	c.C1079G	p.S360C	LSQTLQVASLSTSCWETLLDVISAL	LSQTLQVASLSTCCWETLLDVISAL	7.0	9.0	unscreened	-	4234_12:101685788-101685788 C>G_LSQTLQVASLSTCCWETLLDVISAL
1:114191920-114191920 G>T	0.0	4234	LUNG	-	-	-	-	MAGI3	ENST00000369611,p.R739S|ENST00000307546,p.R739S|ENST00000369617,p.R764S|uc010owm.2,p.R764S|ENST00000369615,p.R739S|uc001edj.3,p.R460S|NM_001142782,p.R739S|uc001edi.4,p.R739S|uc001edk.3,p.R739S|NM_152900,p.R739S|uc001edh.3,p.R764S	protein_coding, processed_transcript	uc010owm.2	nonsynonymous SNV	exon14	c.G2292T	p.R764S	VFLRKQESGFGFRVLGGDGPDQSIY	VFLRKQESGFGFSVLGGDGPDQSIY	6.0	9.0	unscreened	-	4234_1:114191920-114191920 G>T_VFLRKQESGFGFSVLGGDGPDQSIY
X:154294035-154294035 C>A	0.0	4234	LUNG	-	-	-	1	MTCP1	ENST00000369476,p.Q45H|ENST00000362018,p.Q45H|uc004fmz.2,p.Q45H|NM_001018025,p.Q45H	protein_coding, processed_transcript, nonsense_mediated_decay	uc004fmz.2	nonsynonymous SNV	exon3	c.G135T	p.Q45H	VEEETSFLRARVQQIQVPLGDAARP	VEEETSFLRARVHQIQVPLGDAARP	7.0	3.0	-	-	4234_X:154294035-154294035 C>A_VEEETSFLRARVHQIQVPLGDAARP
X:153229647-153229647 A>T	0.0	4234	LUNG	-	-	-	-	HCFC1	ENST00000354233,p.L144H|ENST00000310441,p.L144H|NM_005334,p.L144H|ENST00000369984,p.L144H|uc004fjp.3,p.L144H	protein_coding, processed_transcript	uc004fjp.3	nonsynonymous SNV	exon3	c.T431A	p.L144H	PPPCPRLGHSFSLVGNKCYLFGGLA	PPPCPRLGHSFSHVGNKCYLFGGLA	7.0	4.0	unscreened	-	4234_X:153229647-153229647 A>T_PPPCPRLGHSFSHVGNKCYLFGGLA
8:106431438-106431438 C>A	0.0	4234	LUNG	-	-	-	-	ZFPM2	uc003ymd.3,p.S36Y|NM_012082,p.S36Y|ENST00000407775,p.S36Y	protein_coding, processed_transcript	uc003ymd.3	nonsynonymous SNV	exon2	c.C107A	p.S36Y	EEECPSEETDIISKGDFPLEESFST	EEECPSEETDIIYKGDFPLEESFST	5.0	3.0	unscreened	-	4234_8:106431438-106431438 C>A_EEECPSEETDIIYKGDFPLEESFST
17:33317993-33317993 G>A	1.0	4234	LUNG	-	-	-	-	LIG3	uc002hik.2,p.G301S|ENST00000585941,p.G310S|uc010cth.1,p.G310S|NM_002311,p.G301S|ENST00000262327,p.G301S|ENST00000585740,p.G30S|uc002hij.3,p.G301S|ENST00000378526,p.G301S|NM_013975,p.G301S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cth.1	nonsynonymous SNV	exon5	c.G928A	p.G310S	FLRKGSAGDGFHGDVYLTVKLLLPG	FLRKGSAGDGFHSDVYLTVKLLLPG	8.0	1.0	-	-	4234_17:33317993-33317993 G>A_FLRKGSAGDGFHSDVYLTVKLLLPG
X:48418207-48418207 G>T	0.0	4234	LUNG	-	-	-	-	TBC1D25	uc011mmd.1,p.G50V|uc004dkb.1,p.G50V|uc011mly.1,p.G246V|uc011mma.1,p.G50V|NM_002536,p.G304V|uc004dka.1,p.G304V|ENST00000376771,p.G304V|uc011mmb.1,p.G308V|uc011mmc.1,p.G50V|ENST00000537536,p.G50V|uc011mlz.1,p.G50V|uc004dkc.1,p.G50V	protein_coding, processed_transcript	uc011mmd.1	nonsynonymous SNV	exon5	c.G149T	p.G50V	VLRTDRAHPYYAGPEDGPHLRALHD	VLRTDRAHPYYAVPEDGPHLRALHD	7.0	5.0	unscreened	-	4234_X:48418207-48418207 G>T_VLRTDRAHPYYAVPEDGPHLRALHD
20:35507557-35507557 C>A	0.0	4234	LUNG	-	-	-	-	TLDC2	NM_080628,p.S101R|uc002xgg.1,p.S101R|uc021wcz.1,p.S101R|ENST00000217320,p.S101R|ENST00000602922,p.S101R	protein_coding	uc021wcz.1	nonsynonymous SNV	exon3	c.C303A	p.S101R	SLQSLYRRMEGCSGPVLLVLRDQDG	SLQSLYRRMEGCRGPVLLVLRDQDG	5.0	8.0	unscreened	-	4234_20:35507557-35507557 C>A_SLQSLYRRMEGCRGPVLLVLRDQDG
X:1584982-1584982 G>-	0.0	4234	LUNG	-	-	-	1	P2RY8	NM_178129,p.P157fs|ENST00000381297,p.P157fs|uc004cpz.2,p.P157fs|uc022brv.1,p.P157fs	protein_coding, processed_transcript	uc022brv.1	frameshift deletion	exon1	c.470delC	p.P157fs	AGTWLLLLTALSPLARTDLTYPVHAL	AGTWLLLLTALSRWRAPISPTRCTPWASSPASTSSSGRCSPAWPCGPCSSSPSSSCCSSSRS	5.0	6.0	unscreened	-	4234_X:1584982-1584982 G>-_AGTWLLLLTALSRWRAPISPTRCTPWASSPASTSSSGRCSPAWPCGPCSSSPSSSCCSSSRS
11:130078478-130078478 A>T	1.0	4234	LUNG	-	-	-	-	ST14	ENST00000278742,p.Y723F|NM_021978,p.Y723F|uc001qfw.3,p.Y723F	retained_intron, protein_coding	uc001qfw.3	nonsynonymous SNV	exon17	c.A2168T	p.Y723F	DIALLELEKPAEYSSMVRPICLPDA	DIALLELEKPAEFSSMVRPICLPDA	10.0	2.0	-	-	4234_11:130078478-130078478 A>T_DIALLELEKPAEFSSMVRPICLPDA
10:1061748-1061748 G>T	1.0	4234	LUNG	-	-	-	-	GTPBP4	NM_012341,p.R555L|ENST00000545048,p.R508L|ENST00000360803,p.R555L|ENST00000538293,p.R439L|uc010qae.2,p.R508L|uc010qad.2,p.R439L|uc001ift.3,p.R555L	protein_coding, processed_transcript	uc010qae.2	nonsynonymous SNV	exon16	c.G1523T	p.R508L	ARRSRSITRKRKREDSAPPSSVARS	ARRSRSITRKRKLEDSAPPSSVARS	8.0	1.0	-	-	4234_10:1061748-1061748 G>T_ARRSRSITRKRKLEDSAPPSSVARS
13:95233366-95233366 C>A	1.0	4234	LUNG	-	-	-	-	TGDS	uc001vlw.3,p.Q178H|NM_014305,p.Q178H|ENST00000261296,p.Q178H	retained_intron, protein_coding, processed_transcript	uc001vlw.3	nonsynonymous SNV	exon6	c.G534T	p.Q178H	YASSKAAAECFVQSYWEQYKFPVVI	YASSKAAAECFVHSYWEQYKFPVVI	7.0	9.0	-	-	4234_13:95233366-95233366 C>A_YASSKAAAECFVHSYWEQYKFPVVI
5:136324209-136324209 T>C	0.0	4234	LUNG	-	-	-	-	SPOCK1	NM_004598,p.Y277C|ENST00000394945,p.Y277C|uc003lbo.3,p.Y277C|uc003lbp.3,p.Y277C|ENST00000282223,p.Y277C	retained_intron, protein_coding, processed_transcript	uc003lbp.3	nonsynonymous SNV	exon8	c.A830G	p.Y277C	DPSEINAIYLDKYEPCIKPLFNSCD	DPSEINAIYLDKCEPCIKPLFNSCD	7.0	7.0	unscreened	-	4234_5:136324209-136324209 T>C_DPSEINAIYLDKCEPCIKPLFNSCD
10:135103429-135103429 T>A	1.0	4234	LUNG	-	-	-	-	TUBGCP2	NM_001256618,p.Q290L|uc010qvc.2,p.Q448L|uc001lmf.2,p.Q13L|NM_001256617,p.Q448L|ENST00000417178,p.Q290L|ENST00000252936,p.Q420L|uc001lmg.2,p.Q420L|ENST00000482278,p.Q420L|NM_006659,p.Q420L|uc009ybk.2,p.Q420L|ENST00000543663,p.Q448L|ENST00000368562,p.Q13L|ENST00000368563,p.Q420L|uc010qvd.2,p.Q290L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qvd.2	nonsynonymous SNV	exon8	c.A869T	p.Q290L	MVEEHELRKERIQEDYNDKYWDQRY	MVEEHELRKERILEDYNDKYWDQRY	9.0	7.0	-	-	4234_10:135103429-135103429 T>A_MVEEHELRKERILEDYNDKYWDQRY
X:1719942-1719942 A>C	1.0	4234	LUNG	-	-	-	-	AKAP17A	NM_005088,p.S515R|uc004cqa.3,p.S515R|ENST00000313871,p.S515R	protein_coding, nonsense_mediated_decay	uc004cqa.3	nonsynonymous SNV	exon5	c.A1543C	p.S515R	PEADGAPKSVNGSVAEEAPCKEVQS	PEADGAPKSVNGRVAEEAPCKEVQS	9.0	2.0	-	-	4234_X:1719942-1719942 A>C_PEADGAPKSVNGRVAEEAPCKEVQS
14:39771344-39771344 A>T	1.0	4234	LUNG	-	-	-	-	CTAGE5	ENST00000603904,p.E240D|uc001wvg.4,p.E269D|NM_203355,p.E269D|uc001wvj.4,p.E240D|uc010tqe.1,p.E231D|uc001wvf.4,p.E194D|ENST00000553352,p.E240D|uc001wva.4,p.E240D|NM_005930,p.E269D|NM_001247988,p.E240D|uc001wuy.4,p.E189D|ENST00000396158,p.E274D|NM_001247990,p.E194D|NM_203354,p.E257D|ENST00000280083,p.E269D|ENST00000557038,p.E189D|uc001wvh.4,p.E269D|NM_001247989,p.E274D|ENST00000556148,p.E194D|NM_203356,p.E240D|ENST00000341749,p.E257D|uc001wvb.4,p.E240D|ENST00000553728,p.E804D|ENST00000348007,p.E269D|ENST00000341502,p.E269D|uc001wuz.4,p.E257D|uc001wvc.4,p.E214D|uc001wvi.4,p.E274D|ENST00000396165,p.E240D|uc001wve.1,p.E245D	 processed_transcript,protein_coding	uc010tqe.1	nonsynonymous SNV	exon9	c.A693T	p.E231D	LNDKESHIKTLTERLLKMKDWAAML	LNDKESHIKTLTDRLLKMKDWAAML	9.0	10.0	-	-	4234_14:39771344-39771344 A>T_LNDKESHIKTLTDRLLKMKDWAAML
X:3238376-3238376 G>T	0.0	4234	LUNG	-	-	-	-	MXRA5	uc004crg.4,p.P1784T|ENST00000217939,p.P1784T|NM_015419,p.P1784T	protein_coding	uc004crg.4	nonsynonymous SNV	exon5	c.C5350A	p.P1784T	IHSHSTFHLDFGPPAPPLLHTPQTT	IHSHSTFHLDFGTPAPPLLHTPQTT	8.0	8.0	-	-	4234_X:3238376-3238376 G>T_IHSHSTFHLDFGTPAPPLLHTPQTT
13:48934236-48934236 C>A	0.0	4234	LUNG	-	-	-	1	RB1	uc001vcb.3,p.P231T|ENST00000267163,p.P231T|NM_000321,p.P231T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001vcb.3	nonsynonymous SNV	exon7	c.C691A	p.P231T	MLCVLDYFIKLSPPMLLKEPYKTAV	MLCVLDYFIKLSTPMLLKEPYKTAV	7.0	9.0	unscreened	-	4234_13:48934236-48934236 C>A_MLCVLDYFIKLSTPMLLKEPYKTAV
9:122075585-122075585 G>T	0.0	4234	LUNG	-	-	-	-	BRINP1	uc004bkc.2,p.R17S|NM_014618,p.R17S|uc004bkd.2,p.R17S|ENST00000265922,p.R17S|ENST00000373964,p.R17S	protein_coding, processed_transcript	uc004bkd.2	nonsynonymous SNV	exon2	c.C49A	p.R17S	FVELLYFLFIWGRISVQPSHQEPAG	FVELLYFLFIWGSISVQPSHQEPAG	1.0	8.0	unscreened	-	4234_9:122075585-122075585 G>T_FVELLYFLFIWGSISVQPSHQEPAG
16:23099058-23099058 G>A	0.0	4234	LUNG	-	-	-	-	USP31	NM_020718,p.T505M|uc002dll.3,p.T505M|ENST00000219689,p.T505M	retained_intron, protein_coding	uc002dll.3	nonsynonymous SNV	exon8	c.C1514T	p.T505M	EILEKMKYFLRPTVCIQVCPFSLRV	EILEKMKYFLRPMVCIQVCPFSLRV	5.0	9.0	unscreened	-	4234_16:23099058-23099058 G>A_EILEKMKYFLRPMVCIQVCPFSLRV
1:55075296-55075296 G>T	1.0	4234	LUNG	-	-	-	-	FAM151A	NM_176782,p.A468D|ENST00000302250,p.A468D|uc001cxn.3,p.A468D	protein_coding	uc001cxn.3	nonsynonymous SNV	exon8	c.C1403A	p.A468D	GHVAGRELLTAVAEVFPHVTVAPGW	GHVAGRELLTAVDEVFPHVTVAPGW	2.0	10.0	unscreened	-	4234_1:55075296-55075296 G>T_GHVAGRELLTAVDEVFPHVTVAPGW
19:44500921-44500921 G>C	0.0	4234	LUNG	-	-	-	-	ZNF155	uc002oxz.2,p.K304N|uc031rlg.1,p.K304N|NM_001260488,p.K315N|uc002oxy.2,p.K304N|NM_003445,p.K304N|ENST00000590615,p.K304N|ENST00000407951,p.K315N|NM_001260487,p.K304N|NM_198089,p.K304N|NM_001260486,p.K304N|uc031rlf.1,p.K304N|ENST00000270014,p.K304N|uc010xwt.2,p.K315N	retained_intron, protein_coding	uc031rlg.1	nonsynonymous SNV	exon5	c.G912C	p.K304N	ICGKTFYFRSRLKSHSMVHTGEKPF	ICGKTFYFRSRLNSHSMVHTGEKPF	8.0	1.0	-	-	4234_19:44500921-44500921 G>C_ICGKTFYFRSRLNSHSMVHTGEKPF
22:42538502-42538502 T>G	0.0	4234	LUNG	-	-	-	-	CYP2D7	uc003bci.3,p.E125A|uc010gyx.1,p.E125A	retained_intron, protein_coding, processed_transcript, polymorphic_pseudogene	uc010gyx.1	nonsynonymous SNV	exon4	c.A374C	p.E125A	LRLLDLAQEGLKEESGFLREVLNAV	LRLLDLAQEGLKAESGFLREVLNAV	6.0	9.0	unscreened	-	4234_22:42538502-42538502 T>G_LRLLDLAQEGLKAESGFLREVLNAV
10:73490226-73490226 G>A	0.0	4234	LUNG	-	-	-	-	CDH23	uc001jrz.3,p.V1192M|uc001jrx.4,p.V1192M	protein_coding, processed_transcript	uc001jrz.3	nonsynonymous SNV	exon30	c.G3574A	p.V1192M	AYNHDLGPMRSSVRVIVYVEDINDE	AYNHDLGPMRSSMRVIVYVEDINDE	5.0	9.0	unscreened	-	4234_10:73490226-73490226 G>A_AYNHDLGPMRSSMRVIVYVEDINDE
7:149558701-149558701 G>-	0.0	4234	LUNG	-	-	-	-	ZNF862	NM_001099220,p.G818fs|uc010lpn.3,p.G818fs|ENST00000223210,p.G818fs	retained_intron, protein_coding, processed_transcript	uc010lpn.3	frameshift deletion	exon7	c.2452delG	p.G818fs	ALARHLQRVAEAGGQIGHRAKGMLKL	ALARHLQRVAEAGARLGTGPKGC	7.0	8.0	unscreened	-	4234_7:149558701-149558701 G>-_ALARHLQRVAEAGARLGTGPKGC
2:202899672-202899672 T>C	0.0	4234	LUNG	-	-	-	-	FZD7	ENST00000286201,p.F101S|NM_003507,p.F101S|uc002uyw.1,p.F101S	protein_coding	uc002uyw.1	nonsynonymous SNV	exon1	c.T302C	p.F101S	LVKVQCSPELRFFLCSMYAPVCTVL	LVKVQCSPELRFSLCSMYAPVCTVL	6.0	3.0	unscreened	-	4234_2:202899672-202899672 T>C_LVKVQCSPELRFSLCSMYAPVCTVL
22:37532402-37532402 T>A	0.0	4234	LUNG	-	-	-	-	IL2RB	ENST00000216223,p.Q190L|uc003aqv.1,p.Q190L|NM_000878,p.Q190L	retained_intron, protein_coding, nonsense_mediated_decay	uc003aqv.1	nonsynonymous SNV	exon7	c.A569T	p.Q190L	WEEAPLLTLKQKQEWICLETLTPDT	WEEAPLLTLKQKLEWICLETLTPDT	7.0	10.0	unscreened	-	4234_22:37532402-37532402 T>A_WEEAPLLTLKQKLEWICLETLTPDT
9:131303441-131303441 C>A	1.0	4234	LUNG	-	-	-	-	GLE1	uc010myd.3,p.R443S|ENST00000539582,p.R443S|uc004bvj.3,p.R697S|NM_001003722,p.R697S|ENST00000309971,p.R697S	protein_coding, processed_transcript	uc010myd.3	nonsynonymous SNV	exon15	c.C1327A	p.R443S	PVPKGFLTSSFWRS	PVPKGFLTSSFWSS	8.0	4.0	-	-	4234_9:131303441-131303441 C>A_PVPKGFLTSSFWSS
4:96052377-96052377 G>T	1.0	4234	LUNG	-	-	-	-	BMPR1B	uc031sgm.1,p.A264S|NM_001256794,p.A264S|NM_001203,p.A264S|ENST00000394931,p.A264S|uc003htm.4,p.A264S|NM_001256792,p.A264S|ENST00000515059,p.A264S|ENST00000512312,p.A264S|ENST00000509540,p.A264S|ENST00000264568,p.A264S|uc031sgn.1,p.A294S|uc010ilb.3,p.A264S|NM_001256793,p.A294S|ENST00000440890,p.A294S|uc003htn.4,p.A264S	protein_coding	uc031sgn.1	nonsynonymous SNV	exon8	c.G880T	p.A294S	LMRHENILGFIAADIKGTGSWTQLY	LMRHENILGFIASDIKGTGSWTQLY	6.0	8.0	-	-	4234_4:96052377-96052377 G>T_LMRHENILGFIASDIKGTGSWTQLY
11:49195020-49195020 C>G	0.0	4234	LUNG	-	-	-	-	FOLH1	NM_001193473,p.V64L|uc001ngy.3,p.V372L|NM_004476,p.V372L|NM_001014986,p.V372L|NM_001193472,p.V357L|ENST00000356696,p.V372L|ENST00000343844,p.V64L|ENST00000256999,p.V372L|ENST00000533034,p.V357L|NM_001193471,p.V357L|uc009yly.3,p.V357L|uc009yma.3,p.V64L|ENST00000340334,p.V357L|uc001ngz.3,p.V372L|uc009ylz.3,p.V357L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009yma.3	nonsynonymous SNV	exon8	c.G190C	p.V64L	GTLRGAVEPDRYVILGGHRDSWVFG	GTLRGAVEPDRYLILGGHRDSWVFG	7.0	3.0	unscreened	-	4234_11:49195020-49195020 C>G_GTLRGAVEPDRYLILGGHRDSWVFG
5:64747965-64747965 C>-	0.0	4234	LUNG	-	-	-	-	ADAMTS6	ENST00000464680,p.D308fs|uc003jtp.3,p.D308fs|ENST00000536360,p.D308fs|ENST00000381055,p.D308fs|NM_197941,p.D308fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jtp.3	frameshift deletion	exon6	c.922delG	p.D308fs	NIIVARLIVLTEDQPNLEINHHADKS	NIIVARLIVLTEISQTWR	5.0	9.0	unscreened	-	4234_5:64747965-64747965 C>-_NIIVARLIVLTEISQTWR
8:77765377-77765377 G>T	0.0	4234	LUNG	-	-	-	-	ZFHX4	ENST00000521891,p.D2074Y|uc003yau.2,p.D2074Y|ENST00000455469,p.D2029Y|ENST00000050961,p.D2029Y|ENST00000518282,p.D2048Y|uc003yaw.1,p.D2029Y|NM_024721,p.D2074Y	retained_intron, protein_coding, nonsense_mediated_decay	uc003yaw.1	nonsynonymous SNV	exon9	c.G6085T	p.D2029Y	SAPPQVQLPVSLDLPLFPSIMMQPV	SAPPQVQLPVSLYLPLFPSIMMQPV	4.0	9.0	unscreened	-	4234_8:77765377-77765377 G>T_SAPPQVQLPVSLYLPLFPSIMMQPV
1:157490827-157490827 G>C	0.0	4234	LUNG	-	-	-	-	FCRL5	uc001fqu.3,p.T832R|ENST00000361835,p.T832R|NM_001195388,p.T832R|uc009wsm.3,p.T832R|NM_031281,p.T832R|ENST00000356953,p.T832R	protein_coding, processed_transcript	uc009wsm.3	nonsynonymous SNV	exon11	c.C2495G	p.T832R	EADNGLGAQRSETVTLYITGLTANR	EADNGLGAQRSERVTLYITGLTANR	6.0	1.0	unscreened	-	4234_1:157490827-157490827 G>C_EADNGLGAQRSERVTLYITGLTANR
11:68192754-68192754 C>A	1.0	4234	LUNG	-	-	-	-	LRP5	ENST00000294304,p.L1141M|uc001ont.3,p.L1141M|NM_001291902,p.L560M|NM_002335,p.L1141M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ont.3	nonsynonymous SNV	exon15	c.C3421A	p.L1141M	VDADLKRIESCDLSGANRLTLEDAN	VDADLKRIESCDMSGANRLTLEDAN	10.0	6.0	-	-	4234_11:68192754-68192754 C>A_VDADLKRIESCDMSGANRLTLEDAN
8:6302617-6302617 G>A	0.0	4234	LUNG	-	-	-	-	MCPH1	NM_024596,p.M458I|ENST00000519480,p.M458I|NM_001172574,p.M458I|uc011kwl.2,p.M410I|NM_001172575,p.M410I|uc003wqh.3,p.M458I|ENST00000522905,p.M410I|ENST00000344683,p.M458I|uc003wqi.3,p.M458I	protein_coding, processed_transcript	uc011kwl.2	nonsynonymous SNV	exon7	c.G1230A	p.M410I	SLSKKERTSIFEMSDFSCVGKKTRT	SLSKKERTSIFEISDFSCVGKKTRT	7.0	7.0	unscreened	-	4234_8:6302617-6302617 G>A_SLSKKERTSIFEISDFSCVGKKTRT
3:132202230-132202230 G>C	0.0	4234	LUNG	-	-	-	-	DNAJC13	uc003eor.3,p.L997F|NM_015268,p.L997F|ENST00000260818,p.L997F|ENST00000506813,p.L94F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003eor.3	nonsynonymous SNV	exon28	c.G2991C	p.L997F	RSGPYGFHEMQELWTKGMLNAKTRC	RSGPYGFHEMQEFWTKGMLNAKTRC	8.0	3.0	-	-	4234_3:132202230-132202230 G>C_RSGPYGFHEMQEFWTKGMLNAKTRC
X:13801626-13801626 T>A	0.0	4234	LUNG	-	-	-	-	GPM6B	uc004cvx.3,p.Q69L|uc004cwa.2,p.Q69L|NM_001001995,p.Q128L|ENST00000356942,p.Q88L|uc004cvw.3,p.Q128L|uc011mim.2,p.Q102L|ENST00000454189,p.Q69L|NM_001001996,p.Q128L|NM_001001994,p.Q69L|ENST00000355135,p.Q128L|ENST00000475307,p.Q88L|uc004cvz.2,p.Q88L|ENST00000493677,p.Q102L|NM_005278,p.Q88L|ENST00000316715,p.Q128L|uc004cvy.2,p.Q128L	protein_coding	uc011mim.2	nonsynonymous SNV	exon5	c.A305T	p.Q102L	DHALLSEVIQLMQYVIYGIASFFFL	DHALLSEVIQLMLYVIYGIASFFFL	4.0	6.0	unscreened	-	4234_X:13801626-13801626 T>A_DHALLSEVIQLMLYVIYGIASFFFL
11:5799717-5799717 ->C	0.0	4234	LUNG	-	-	-	-	OR52N5	ENST00000317093,p.N50fs|NM_001001922,p.N50fs|uc010qzn.2,p.N50fs	protein_coding	uc010qzn.2	frameshift insertion	exon1	c.147dupG	p.N50fs	PLCTMYIIFLVGNLGLVYLIYYEES	PLCTMYIIFLVGESWSCVPHLL	1.0	3.0	unscreened	-	4234_11:5799717-5799717 ->C_PLCTMYIIFLVGESWSCVPHLL
1:89616142-89616142 G>-	0.0	4234	LUNG	-	-	-	-	GBP7	uc001dna.2,p.H248fs|NM_207398,p.H248fs|ENST00000294671,p.H248fs	protein_coding	uc001dna.2	frameshift deletion	exon6	c.742delC	p.H248fs	FDRPINDKKLLLHVEEVREDQLDSNF	FDRPINDKKLLLMLKKYEKTNWIVISRCNQKISVLISSPMQRPRP	4.0	9.0	unscreened	-	4234_1:89616142-89616142 G>-_FDRPINDKKLLLMLKKYEKTNWIVISRCNQKISVLISSPMQRPRP
12:25398285-25398285 C>A	0.0	4234	LUNG	-	-	ID=COSM1140136,COSM516;OCCURENCE=15(stomach),1(central_nervous_system),8(upper_aerodigestive_tract),2(oesophagus),3(peritoneum),1776(lung),18(thyroid),17(haematopoietic_and_lymphoid_tissue),2(testis),2(cervix),4(gastrointestinal_tract_(site_indeterminate)),13(soft_tissue),34(ovary),38(endometrium),5(skin),11(breast),8(small_intestine),1(kidney),130(pancreas),4(liver),15(urinary_tract),1(adrenal_gland),1476(large_intestine),51(biliary_tract),10(prostate)	1	KRAS	ENST00000256078,p.G12C|uc001rgp.1,p.G12C|ENST00000311936,p.G12C|uc001rgq.1,p.G12C|NM_004985,p.G12C|NM_033360,p.G12C|ENST00000556131,p.G12C|ENST00000557334,p.G12C	protein_coding	uc001rgq.1	nonsynonymous SNV	exon2	c.G34T	p.G12C	MTEYKLVVVGAGGVGKSALTIQLI	MTEYKLVVVGACGVGKSALTIQLI	8.0	9.0	-	-	4234_12:25398285-25398285 C>A_MTEYKLVVVGACGVGKSALTIQLI
X:13801626-13801626 T>A	0.0	4234	LUNG	-	-	-	-	GPM6B	ENST00000495211,p.Q53L	protein_coding	ENST00000495211	nonsynonymous SNV	exon2	c.A158T	p.Q53L	NPCRPGLRIQLMQYVIYGIASFFFL	NPCRPGLRIQLMLYVIYGIASFFFL	4.0	6.0	unscreened	-	4234_X:13801626-13801626 T>A_NPCRPGLRIQLMLYVIYGIASFFFL
19:33301008-33301008 T>C	0.0	4234	LUNG	-	-	-	-	TDRD12,SLC7A9	ENST00000444215,p.F888L|uc002ntq.2,p.F888L	protein_coding, nonsense_mediated_decay	uc002ntq.2	nonsynonymous SNV	exon23	c.T2662C	p.F888L	ALPSFGYIKIIPFYILNATNYFGRI	ALPSFGYIKIIPLYILNATNYFGRI	3.0	10.0	unscreened	-	4234_19:33301008-33301008 T>C_ALPSFGYIKIIPLYILNATNYFGRI
12:71029826-71029826 C>G	0.0	4234	LUNG	-	-	-	1	PTPRB	ENST00000548122,p.V26L|NM_001109754,p.V26L|ENST00000334414,p.V26L|uc001swc.4,p.V26L|uc001swe.3,p.V26L|uc009zrr.2,p.V26L|ENST00000550358,p.V26L|uc001swa.4,p.V26L	retained_intron, protein_coding, processed_transcript	uc009zrr.2	nonsynonymous SNV	exon2	c.G76C	p.V26L	IFRNSEGFQIVHVQKQQCLFKNEKV	IFRNSEGFQIVHLQKQQCLFKNEKV	6.0	10.0	unscreened	-	4234_12:71029826-71029826 C>G_IFRNSEGFQIVHLQKQQCLFKNEKV
8:12285102-12285102 T>C	0.0	4234	LUNG	-	rs2698897	-	-	FAM86B2	ENST00000393715,p.E91G|uc011kxt.2,p.E91G	protein_coding	uc011kxt.2	nonsynonymous SNV	exon3	c.A272G	p.E91G	TWCPSCPCRTPVEVKELGAGEKLGC	TWCPSCPCRTPVGVKELGAGEKLGC	6.0	10.0	unscreened	-	4234_8:12285102-12285102 T>C_TWCPSCPCRTPVGVKELGAGEKLGC
3:42906227-42906227 G>T	0.0	4234	LUNG	-	-	-	-	ACKR2	uc003cme.3,p.R78M|ENST00000442925,p.R78M|uc021wwm.1,p.R78M|ENST00000273145,p.R78M|uc003cmf.3,p.R78M|NM_001296,p.R78M|ENST00000422265,p.R78M	protein_coding, processed_transcript	uc021wwm.1	nonsynonymous SNV	exon1	c.G233T	p.R78M	LLLMVLLRYVPRRRMVEIYLLNLAI	LLLMVLLRYVPRMRMVEIYLLNLAI	4.0	9.0	unscreened	-	4234_3:42906227-42906227 G>T_LLLMVLLRYVPRMRMVEIYLLNLAI
5:90050901-90050901 G>T	0.0	4234	LUNG	-	-	-	-	GPR98	uc003kjv.3,p.D1427Y|NM_032119,p.D3827Y|ENST00000405460,p.D3827Y|uc003kju.3,p.D3827Y	retained_intron, protein_coding, processed_transcript	uc003kjv.3	nonsynonymous SNV	exon23	c.G4279T	p.D1427Y	HLRAQPNFLLHVDNQATENEDYVLQ	HLRAQPNFLLHVYNQATENEDYVLQ	5.0	4.0	unscreened	-	4234_5:90050901-90050901 G>T_HLRAQPNFLLHVYNQATENEDYVLQ
18:13018545-13018545 G>T	1.0	4234	LUNG	-	-	-	-	CEP192	NM_032142,p.D286Y|ENST00000589596,p.D286Y|ENST00000506447,p.D286Y|uc002krs.1,p.D286Y|uc010xac.2,p.D286Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc010xac.2	nonsynonymous SNV	exon8	c.G856T	p.D286Y	FQSENNSSLISLDSHSSETTHKESE	FQSENNSSLISLYSHSSETTHKESE	7.0	8.0	-	-	4234_18:13018545-13018545 G>T_FQSENNSSLISLYSHSSETTHKESE
10:134008379-134008379 G>T	0.0	4234	LUNG	-	-	-	-	DPYSL4	uc009ybb.3,p.S115I|ENST00000368629,p.S38I|NM_006426,p.S115I|ENST00000338492,p.S115I|ENST00000368627,p.S38I	protein_coding, processed_transcript	uc009ybb.3	nonsynonymous SNV	exon4	c.G344T	p.S115I	MILDHVFPDTGVSLLAAYEQWRERA	MILDHVFPDTGVILLAAYEQWRERA	5.0	7.0	unscreened	-	4234_10:134008379-134008379 G>T_MILDHVFPDTGVILLAAYEQWRERA
12:71029826-71029826 C>G	0.0	4234	LUNG	-	-	-	1	PTPRB	uc001swd.4,p.V25L|ENST00000551525,p.V25L	retained_intron, protein_coding, processed_transcript	uc001swd.4	nonsynonymous SNV	exon2	c.G73C	p.V25L	LIFRNSGFQIVHVQKQQCLFKNEKV	LIFRNSGFQIVHLQKQQCLFKNEKV	6.0	10.0	unscreened	-	4234_12:71029826-71029826 C>G_LIFRNSGFQIVHLQKQQCLFKNEKV
5:13701417-13701417 C>G	0.0	4234	LUNG	-	-	-	-	DNAH5	ENST00000265104,p.Q4489H|uc003jfc.2,p.Q657H|NM_001369,p.Q4489H|uc003jfd.2,p.Q4489H	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon77	c.G13467C	p.Q4489H	PHCFWMTGFFNPQGFLTAMRQEITR	PHCFWMTGFFNPHGFLTAMRQEITR	5.0	6.0	unscreened	-	4234_5:13701417-13701417 C>G_PHCFWMTGFFNPHGFLTAMRQEITR
12:66712429-66712429 G>T	0.0	4234	LUNG	-	-	-	-	HELB	NM_033647,p.R671L|ENST00000247815,p.R671L|ENST00000545134,p.R671L|ENST00000542394,p.R671L|uc001sti.3,p.R671L	retained_intron, protein_coding, nonsense_mediated_decay	uc001sti.3	nonsynonymous SNV	exon7	c.G2012T	p.R671L	QLIVDNATRISRRQFPKFDAELNIS	QLIVDNATRISRLQFPKFDAELNIS	5.0	1.0	unscreened	-	4234_12:66712429-66712429 G>T_QLIVDNATRISRLQFPKFDAELNIS
2:196753600-196753600 ->A	0.0	4234	LUNG	-	-	-	-	DNAH7	uc002utj.4,p.G1718fs|NM_018897,p.G1718fs|ENST00000312428,p.G1718fs	retained_intron, protein_coding, processed_transcript	uc002utj.4	frameshift insertion	exon32	c.5151dupT	p.G1718fs	VLDDNKKLCLMSGEIIQMSPQMNLI	VLDDNKKLCLMSWGDYSDVTTNESNF	5.0	6.0	unscreened	-	4234_2:196753600-196753600 ->A_VLDDNKKLCLMSWGDYSDVTTNESNF
8:145780963-145780963 C>A	0.0	4234	LUNG	-	-	-	-	ARHGAP39	NM_025251,p.G193C|uc011llk.1,p.G193C|ENST00000276826,p.G193C|ENST00000540274,p.G193C|uc003zdt.1,p.G193C|ENST00000377307,p.G193C|uc003zds.1,p.G193C	protein_coding, processed_transcript	uc011llk.1	nonsynonymous SNV	exon4	c.G577T	p.G193C	KDYEIYRDYSADGQLLHYRTSSLRW	KDYEIYRDYSADCQLLHYRTSSLRW	6.0	5.0	unscreened	-	4234_8:145780963-145780963 C>A_KDYEIYRDYSADCQLLHYRTSSLRW
4:4199305-4199305 G>T	0.0	4234	LUNG	-	-	-	-	OTOP1	uc003ghp.1,p.P419H|ENST00000296358,p.P419H|NM_177998,p.P419H	protein_coding	uc003ghp.1	nonsynonymous SNV	exon5	c.C1256A	p.P419H	GSILAILCAEGHPRYTWYNLPYSIL	GSILAILCAEGHHRYTWYNLPYSIL	1.0	7.0	unscreened	-	4234_4:4199305-4199305 G>T_GSILAILCAEGHHRYTWYNLPYSIL
7:150499394-150499394 C>A	0.0	4234	LUNG	-	-	-	-	TMEM176A	ENST00000004103,p.A89D|ENST00000468689,p.A30D|ENST00000484928,p.A89D|ENST00000461345,p.A30D|uc003whx.1,p.A89D|ENST00000475536,p.A41D|NM_018487,p.A89D	retained_intron, protein_coding	uc003whx.1	nonsynonymous SNV	exon3	c.C266A	p.A89D	IRDYTLLVTSGAAIWTGAVAVLAGA	IRDYTLLVTSGADIWTGAVAVLAGA	10.0	2.0	-	-	4234_7:150499394-150499394 C>A_IRDYTLLVTSGADIWTGAVAVLAGA
5:127686575-127686575 C>T	1.0	4234	LUNG	-	-	-	-	FBN2	ENST00000508053,p.E933K|NM_001999,p.E933K|uc003kuv.2,p.E900K|uc003kuu.3,p.E933K|ENST00000508989,p.E900K|ENST00000262464,p.E933K	retained_intron, protein_coding, processed_transcript	uc003kuv.2	nonsynonymous SNV	exon20	c.G2698A	p.E900K	CATLGAAWGSPCERCELDTACPRGL	CATLGAAWGSPCKRCELDTACPRGL	7.0	4.0	-	-	4234_5:127686575-127686575 C>T_CATLGAAWGSPCKRCELDTACPRGL
6:123104874-123104874 G>T	0.0	4234	LUNG	-	-	-	-	FABP7	ENST00000368444,p.G121C|uc003pzf.3,p.G121C|NM_001446,p.G121C	protein_coding	uc003pzf.3	nonsynonymous SNV	exon4	c.G361T	p.G121C	IKDGKMVMTLTFGDVVAVRHYEKA	IKDGKMVMTLTFCDVVAVRHYEKA	2.0	9.0	unscreened	-	4234_6:123104874-123104874 G>T_IKDGKMVMTLTFCDVVAVRHYEKA
X:150154176-150154176 C>A	0.0	4234	LUNG	-	-	-	-	HMGB3	NM_001301228,p.P35H|uc004feq.3,p.P35H|NM_001301229,p.P35H|ENST00000430118,p.P35H|ENST00000325307,p.P35H|uc004fer.3,p.P35H|uc004fep.3,p.P35H|ENST00000448905,p.P35H|NM_005342,p.P35H|ENST00000455596,p.P35H|ENST00000419110,p.P35H|NM_001301231,p.P55H	protein_coding	uc004fer.3	nonsynonymous SNV	exon2	c.C104A	p.P35H	CREEHKKKNPEVPVNFAEFSKKCSE	CREEHKKKNPEVHVNFAEFSKKCSE	9.0	7.0	-	-	4234_X:150154176-150154176 C>A_CREEHKKKNPEVHVNFAEFSKKCSE
18:43456261-43456261 C>A	0.0	4234	LUNG	-	-	-	-	EPG5	ENST00000282041,p.A1997S|uc002lbn.2,p.A872S|uc010xcq.1,p.A551S|uc002lbm.3,p.A1997S|NM_020964,p.A1997S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xcq.1	nonsynonymous SNV	exon19	c.G1651T	p.A551S	RHYPWLESDTVVASSIVQLFTDCID	RHYPWLESDTVVSSSIVQLFTDCID	6.0	8.0	unscreened	-	4234_18:43456261-43456261 C>A_RHYPWLESDTVVSSSIVQLFTDCID
19:55179147-55179147 C>A	0.0	4234	LUNG	-	-	-	-	LILRB4	NM_001278427,p.P367H|uc010eru.3,p.P398H|NM_001278428,p.P368H|NM_001278426,p.P368H|ENST00000430952,p.P367H|ENST00000270452,p.P368H|NM_001278429,p.P398H|uc002qgp.3,p.P368H|ENST00000391733,p.P369H|ENST00000434286,p.P367H|uc002qgq.3,p.P367H|uc010ert.3,p.P409H|ENST00000391736,p.P368H	retained_intron, protein_coding, processed_transcript	uc010eru.3	nonsynonymous SNV	exon10	c.C1193A	p.P398H	QAVTYAKVKHSRPRREMASPPSPLS	QAVTYAKVKHSRHRREMASPPSPLS	10.0	10.0	-	-	4234_19:55179147-55179147 C>A_QAVTYAKVKHSRHRREMASPPSPLS
7:79082427-79082427 G>T	0.0	4234	LUNG	-	-	-	-	MAGI2	ENST00000522391,p.N70K|ENST00000419488,p.N70K|uc003ugy.3,p.N70K|NM_012301,p.N70K|NM_001301128,p.N70K|ENST00000354212,p.N70K|uc003ugx.3,p.N70K	retained_intron, protein_coding, processed_transcript	uc003ugy.3	nonsynonymous SNV	exon1	c.C210A	p.N70K	SKLVSEELLLEVNETPVAGLTIRDV	SKLVSEELLLEVKETPVAGLTIRDV	5.0	3.0	unscreened	-	4234_7:79082427-79082427 G>T_SKLVSEELLLEVKETPVAGLTIRDV
1:156834524-156834524 A>T	0.0	4234	LUNG	-	-	-	1	NTRK1	ENST00000392302,p.I68F|uc001fqf.1,p.I68F|ENST00000358660,p.I98F|NM_001007792,p.I68F|ENST00000497019,p.I68F|uc001fqi.1,p.I98F|uc009wsk.1,p.I98F|ENST00000524377,p.I98F|NM_001012331,p.I98F|NM_002529,p.I98F|uc001fqh.1,p.I98F|ENST00000368196,p.I98F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009wsk.1	nonsynonymous SNV	exon3	c.A292T	p.I98F	DLRGLGELRNLTIVKSGLRFVAPDA	DLRGLGELRNLTFVKSGLRFVAPDA	5.0	4.0	unscreened	-	4234_1:156834524-156834524 A>T_DLRGLGELRNLTFVKSGLRFVAPDA
7:135333167-135333167 A>G	1.0	4234	LUNG	-	-	-	-	NUP205	ENST00000285968,p.I1968V|uc003vsw.3,p.I1968V|NM_015135,p.I1968V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vsw.3	nonsynonymous SNV	exon43	c.A5902G	p.I1968V	SQHDLDQLQADAINAFGESLQKKLL	SQHDLDQLQADAVNAFGESLQKKLL	9.0	1.0	-	-	4234_7:135333167-135333167 A>G_SQHDLDQLQADAVNAFGESLQKKLL
12:54404878-54404878 G>T	0.0	4234	LUNG	-	-	-	-	HOXC8	ENST00000040584,p.G148W|uc001ser.3,p.G148W|NM_022658,p.G148W	protein_coding	uc001ser.3	nonsynonymous SNV	exon2	c.G442T	p.G148W	SLMFPWMRPHAPGRRSGRQTYSRYQ	SLMFPWMRPHAPWRRSGRQTYSRYQ	5.0	6.0	unscreened	-	4234_12:54404878-54404878 G>T_SLMFPWMRPHAPWRRSGRQTYSRYQ
10:125426242-125426242 G>T	0.0	4234	LUNG	-	-	-	-	GPR26	uc001lhh.3,p.A107S|NM_153442,p.A107S|ENST00000284674,p.A107S	protein_coding	uc001lhh.3	nonsynonymous SNV	exon1	c.G319T	p.A107S	LSMAALSIDRWVAVVFPLSYRAKMR	LSMAALSIDRWVSVVFPLSYRAKMR	2.0	7.0	unscreened	-	4234_10:125426242-125426242 G>T_LSMAALSIDRWVSVVFPLSYRAKMR
7:133261479-133261479 G>A	0.0	4234	LUNG	-	-	-	-	EXOC4	uc003vrl.3,p.D71N|ENST00000545148,p.D71N	retained_intron, protein_coding, processed_transcript	uc003vrl.3	nonsynonymous SNV	exon1	c.G211A	p.D71N	ETISMKTCCQHGDRGYWSTGYYWRG	ETISMKTCCQHGNRGYWSTGYYWRG	9.0	6.0	unscreened	-	4234_7:133261479-133261479 G>A_ETISMKTCCQHGNRGYWSTGYYWRG
5:9337835-9337835 C>A	0.0	4234	LUNG	-	-	ID=COSM359996;OCCURENCE=1(lung)	-	SEMA5A	uc003jek.2,p.V72L|ENST00000513968,p.V72L|NM_003966,p.V72L|ENST00000382496,p.V72L|ENST00000509486,p.V72L	protein_coding, nonsense_mediated_decay	uc003jek.2	nonsynonymous SNV	exon4	c.G214T	p.V72L	QLTFDPGQKELVVGARNYLFRLQLE	QLTFDPGQKELVLGARNYLFRLQLE	5.0	7.0	-	-	4234_5:9337835-9337835 C>A_QLTFDPGQKELVLGARNYLFRLQLE
10:73490226-73490226 G>A	0.0	4234	LUNG	-	-	-	-	CDH23	NM_022124,p.V1194M|NM_001171930,p.V1194M|ENST00000224721,p.V1199M	protein_coding, processed_transcript	NM_022124	nonsynonymous SNV	exon30	c.G3580A	p.V1194M	NHDLGPMRSSVRVIVYVEDINDEAP	NHDLGPMRSSVRMIVYVEDINDEAP	5.0	9.0	unscreened	-	4234_10:73490226-73490226 G>A_NHDLGPMRSSVRMIVYVEDINDEAP
4:73957779-73957779 C>G	1.0	4234	LUNG	-	-	-	-	ANKRD17	ENST00000509867,p.A1743P|ENST00000330838,p.A1605P|NM_001286771,p.A1743P|ENST00000358602,p.A1856P|NM_198889,p.A1605P|uc003hgq.3,p.A1605P|uc003hgo.3,p.A1743P|uc003hgp.3,p.A1856P|NM_032217,p.A1856P|uc003hgr.3,p.A1855P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003hgr.3	nonsynonymous SNV	exon29	c.G5563C	p.A1855P	STSQTATALTVPAISSASTHKTIKN	STSQTATALTVPPISSASTHKTIKN	9.0	6.0	-	-	4234_4:73957779-73957779 C>G_STSQTATALTVPPISSASTHKTIKN
8:75227684-75227684 T>A	0.0	4234	LUNG	-	-	-	-	JPH1	uc003yag.1,p.D48V|uc003yaf.3,p.D184V|uc003yae.3,p.D184V|NM_020647,p.D184V|ENST00000342232,p.D184V	protein_coding, processed_transcript, nonsense_mediated_decay	uc003yag.1	nonsynonymous SNV	exon2	c.A143T	p.D48V	NGSVLHDAAAAADSPAGTRGGFVLN	NGSVLHDAAAAAVSPAGTRGGFVLN	6.0	3.0	unscreened	-	4234_8:75227684-75227684 T>A_NGSVLHDAAAAAVSPAGTRGGFVLN
12:101490378-101490378 T>A	0.0	4234	LUNG	-	-	-	-	ANO4	NM_001286615,p.F601L|NM_178826,p.F566L|ENST00000550015,p.F121L|uc001thw.2,p.F566L|ENST00000392977,p.F601L|uc010svm.1,p.F601L|ENST00000299222,p.F121L|uc001thx.2,p.F601L|uc001thy.2,p.F121L|NM_001286616,p.F601L|ENST00000392979,p.F566L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010svm.1	nonsynonymous SNV	exon19	c.T1803A	p.F601L	ENSFTLKMFLFQFVNLNSSTFYIAF	ENSFTLKMFLFQLVNLNSSTFYIAF	1.0	10.0	unscreened	-	4234_12:101490378-101490378 T>A_ENSFTLKMFLFQLVNLNSSTFYIAF
10:81850553-81850553 G>T	0.0	4234	LUNG	-	-	-	-	TMEM254	NM_025125,p.K84N|uc001kbl.4,p.K84N|ENST00000372281,p.K84N|uc010qlw.3,p.K108N|NM_001270367,p.K108N	protein_coding, processed_transcript	uc010qlw.3	nonsynonymous SNV	exon4	c.G324T	p.K108N	HVGESLYAIVLCKHKGITSGRAQLL	HVGESLYAIVLCNHKGITSGRAQLL	8.0	10.0	unscreened	-	4234_10:81850553-81850553 G>T_HVGESLYAIVLCNHKGITSGRAQLL
X:21674700-21674700 G>T	0.0	4234	LUNG	-	-	-	-	KLHL34	ENST00000379499,p.H403N|uc004czz.1,p.H403N|NM_153270,p.H403N	protein_coding	uc004czz.1	nonsynonymous SNV	exon1	c.C1207A	p.H403N	VTAQVHRYDPRFHAWTEVPAMREAR	VTAQVHRYDPRFNAWTEVPAMREAR	2.0	4.0	unscreened	-	4234_X:21674700-21674700 G>T_VTAQVHRYDPRFNAWTEVPAMREAR
13:35923297-35923297 G>C	1.0	4234	LUNG	-	-	-	2	NBEA	NM_015678,p.E1986Q|ENST00000310336,p.E1986Q|ENST00000400445,p.E1986Q|uc010abi.3,p.E642Q|ENST00000379939,p.E1983Q|uc021rid.1,p.E1986Q|ENST00000540320,p.E1986Q	protein_coding, processed_transcript	uc021rid.1	nonsynonymous SNV	exon37	c.G5956C	p.E1986Q	MKDHIVRVANEAEFILNRQRAEDVH	MKDHIVRVANEAQFILNRQRAEDVH	5.0	9.0	-	-	4234_13:35923297-35923297 G>C_MKDHIVRVANEAQFILNRQRAEDVH
10:15255386-15255386 C>A	1.0	4234	LUNG	-	-	-	-	FAM171A1	ENST00000378116,p.G734V|NM_001010924,p.G734V|uc001iob.3,p.G734V	protein_coding, processed_transcript	uc001iob.3	nonsynonymous SNV	exon8	c.G2201T	p.G734V	HSYIDLQRAGRNGSNDASLDSGVDM	HSYIDLQRAGRNVSNDASLDSGVDM	6.0	2.0	-	-	4234_10:15255386-15255386 C>A_HSYIDLQRAGRNVSNDASLDSGVDM
12:4920759-4920759 C>T	0.0	4234	LUNG	-	-	-	-	KCNA6	ENST00000433855,p.R518W|ENST00000280684,p.R518W|uc001qng.3,p.R518W|NM_002235,p.R518W|uc021qtr.1,p.R518W	protein_coding	uc021qtr.1	nonsynonymous SNV	exon1	c.C1552T	p.R518W	RERRPSYLPTPHRAYAEKRMLTEV	RERRPSYLPTPHWAYAEKRMLTEV	1.0	8.0	unscreened	-	4234_12:4920759-4920759 C>T_RERRPSYLPTPHWAYAEKRMLTEV
10:69934230-69934230 C>T	0.0	4234	LUNG	-	-	-	-	MYPN	NM_032578,p.P794L|ENST00000358913,p.P794L|uc001jno.4,p.P794L|NM_001256267,p.P794L|ENST00000354393,p.P519L|uc001jnn.5,p.P519L|ENST00000540630,p.P794L|uc010qit.3,p.P500L|uc001jnm.5,p.P794L|uc009xpt.3,p.P794L|NM_001256268,p.P500L	protein_coding	uc010qit.3	nonsynonymous SNV	exon15	c.C1499T	p.P500L	NEPLPPGPTEPTPPPFTFSIPSGNQ	NEPLPPGPTEPTLPPFTFSIPSGNQ	1.0	5.0	unscreened	-	4234_10:69934230-69934230 C>T_NEPLPPGPTEPTLPPFTFSIPSGNQ
12:55846017-55846017 T>C	0.0	4234	LUNG	-	-	-	-	OR6C2	ENST00000322678,p.I7T|NM_054105,p.I7T|uc001sgz.1,p.I7T	protein_coding	uc001sgz.1	nonsynonymous SNV	exon1	c.T20C	p.I7T	MKNHTVIRTFILLGLTGDP	MKNHTVTRTFILLGLTGDP	1.0	10.0	unscreened	-	4234_12:55846017-55846017 T>C_MKNHTVTRTFILLGLTGDP
14:93649843-93649843 C>T	1.0	4234	LUNG	-	-	-	-	MOAP1	ENST00000556883,p.E249K|NM_022151,p.E249K|ENST00000298894,p.E249K|uc001ybj.3,p.E249K|uc021saw.1,p.E249K	protein_coding	uc021saw.1	nonsynonymous SNV	exon1	c.G745A	p.E249K	LEEVFGVTDNPRELQVKYLTTYQKD	LEEVFGVTDNPRKLQVKYLTTYQKD	8.0	3.0	-	-	4234_14:93649843-93649843 C>T_LEEVFGVTDNPRKLQVKYLTTYQKD
11:15197535-15197535 G>C	0.0	4234	LUNG	-	-	-	-	INSC	NM_001278315,p.R102P|NM_001031853,p.R149P|uc001mlz.4,p.R102P|uc001mmb.4,p.R102P|NM_001042536,p.R102P|NM_001278313,p.R102P|uc001mma.4,p.R102P|uc010rcs.3,p.R102P|ENST00000379556,p.R102P|ENST00000379554,p.R149P|NM_001278316,p.R102P|ENST00000424273,p.R102P|uc001mmc.4,p.R102P|ENST00000530161,p.R102P|ENST00000525218,p.R102P|NM_001278314,p.R102P|uc001mly.4,p.R149P|ENST00000528567,p.R102P	protein_coding, processed_transcript	uc010rcs.3	nonsynonymous SNV	exon2	c.G305C	p.R102P	RIGQKLAQDRWARVHSMSVRLTCHA	RIGQKLAQDRWAPVHSMSVRLTCHA	1.0	1.0	unscreened	-	4234_11:15197535-15197535 G>C_RIGQKLAQDRWAPVHSMSVRLTCHA
X:128927737-128927737 G>-	0.0	4234	LUNG	-	-	-	-	SASH3	ENST00000356892,p.G358fs|NM_018990,p.G358fs|uc004euu.3,p.G358fs|uc011muo.1,p.G325fs	protein_coding, processed_transcript	uc011muo.1	frameshift deletion	exon6	c.973delG	p.G325fs	PRDSGCFEGSESGRDDAELAGTEEQ	PRDSGCFEGSESGAMTQSWQALRSSCKASPWPGHL	8.0	5.0	-	 reached end of cDNA	4234_X:128927737-128927737 G>-_PRDSGCFEGSESGAMTQSWQALRSSCKASPWPGHL
9:21206847-21206847 T>A	0.0	4234	LUNG	-	-	-	-	IFNA10	NM_002171,p.I84F|uc003zoq.1,p.I84F|ENST00000357374,p.I84F	protein_coding	uc003zoq.1	nonsynonymous SNV	exon1	c.A250T	p.I84F	QKAQAISVLHEMIQQTFNLFSTEDS	QKAQAISVLHEMFQQTFNLFSTEDS	1.0	8.0	unscreened	-	4234_9:21206847-21206847 T>A_QKAQAISVLHEMFQQTFNLFSTEDS
9:111903820-111903820 C>A	0.0	4234	LUNG	-	-	-	-	FRRS1L	uc004bdw.1,p.R222L|NM_014334,p.R222L|ENST00000374581,p.R222L	protein_coding	uc004bdw.1	nonsynonymous SNV	exon4	c.G665T	p.R222L	VMACVHDDNGRVRIQHFYNVGQWAK	VMACVHDDNGRVLIQHFYNVGQWAK	2.0	1.0	unscreened	-	4234_9:111903820-111903820 C>A_VMACVHDDNGRVLIQHFYNVGQWAK
11:59271142-59271142 T>A	0.0	4234	LUNG	-	-	-	-	OR4D11	NM_001004706,p.C32S|uc001noa.1,p.C32S|ENST00000313253,p.C32S	protein_coding	uc001noa.1	nonsynonymous SNV	exon1	c.T94A	p.C32S	SQDQSLVLFLFLCLVYMTTLLGNLL	SQDQSLVLFLFLSLVYMTTLLGNLL	1.0	3.0	unscreened	-	4234_11:59271142-59271142 T>A_SQDQSLVLFLFLSLVYMTTLLGNLL
4:9784577-9784577 C>G	0.0	4234	LUNG	-	-	-	-	DRD5	NM_000798,p.C308W|uc003gmb.4,p.C308W|ENST00000304374,p.C308W	protein_coding	uc003gmb.4	nonsynonymous SNV	exon1	c.C924G	p.C308W	KTLSVIMGVFVCCWLPFFILNCMVP	KTLSVIMGVFVCWWLPFFILNCMVP	1.0	2.0	unscreened	-	4234_4:9784577-9784577 C>G_KTLSVIMGVFVCWWLPFFILNCMVP
X:104464258-104464258 A>T	0.0	4234	LUNG	-	-	-	-	TEX13A	uc004emb.3,p.L207Q|ENST00000372575,p.L207Q|ENST00000372578,p.L207Q	protein_coding	uc004emb.3	nonsynonymous SNV	exon3	c.T620A	p.L207Q	EEQRGCWRLWLPLWRPWLPLWRLGL	EEQRGCWRLWLPQWRPWLPLWRLGL	1.0	8.0	unscreened	-	4234_X:104464258-104464258 A>T_EEQRGCWRLWLPQWRPWLPLWRLGL
X:30254870-30254870 C>T	0.0	4234	LUNG	-	-	-	-	MAGEB3	NM_002365,p.P277S|ENST00000378986,p.P277S|uc022bug.1,p.P277S|ENST00000361644,p.P277S|uc004dca.2,p.P277S	protein_coding	uc022bug.1	nonsynonymous SNV	exon1	c.C829T	p.P277S	NSNPARYEFLWGPRAHAETSKMKVL	NSNPARYEFLWGSRAHAETSKMKVL	1.0	1.0	unscreened	-	4234_X:30254870-30254870 C>T_NSNPARYEFLWGSRAHAETSKMKVL
20:5283220-5283220 G>T	0.0	4234	LUNG	-	-	-	-	PROKR2	uc010zqy.2,p.F207L|NM_144773,p.F207L|ENST00000217270,p.F207L|uc010zqx.2,p.F207L|uc010zqw.2,p.F207L|ENST00000546004,p.F207L	protein_coding	uc010zqy.2	nonsynonymous SNV	exon3	c.C621A	p.F207L	TVLFIVKSQEKIFCGQIWPVDQQLY	TVLFIVKSQEKILCGQIWPVDQQLY	1.0	6.0	unscreened	-	4234_20:5283220-5283220 G>T_TVLFIVKSQEKILCGQIWPVDQQLY
2:145162523-145162523 C>T	0.0	4234	LUNG	-	-	-	-	ZEB2	uc010fnq.1,p.G187S|ENST00000303660,p.G158S|uc002tvv.3,p.G152S|ENST00000427902,p.G158S|NM_001171653,p.G134S|uc010zbm.2,p.G134S|ENST00000409487,p.G158S|ENST00000539609,p.G134S|NM_014795,p.G158S|ENST00000558170,p.G158S|uc002tvu.3,p.G158S|ENST00000392861,p.G158S	retained_intron, protein_coding, processed_transcript	uc010zbm.2	nonsynonymous SNV	exon4	c.G400A	p.G134S	EYFAKRKLEERDGHAVSIEEYLQRS	EYFAKRKLEERDSHAVSIEEYLQRS	8.0	4.0	unscreened	-	4234_2:145162523-145162523 C>T_EYFAKRKLEERDSHAVSIEEYLQRS
3:171442522-171442522 C>G	1.0	4234	LUNG	-	-	-	-	PLD1	ENST00000351298,p.C241S|NM_002662,p.C241S|ENST00000340989,p.C241S|uc003fhs.3,p.C241S|ENST00000356327,p.C241S|uc003fht.3,p.C241S|NM_001130081,p.C241S|ENST00000342215,p.C241S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003fht.3	nonsynonymous SNV	exon8	c.G722C	p.C241S	RSGGHRIPGLNCCGQGRACYRWSKR	RSGGHRIPGLNCSGQGRACYRWSKR	7.0	10.0	-	-	4234_3:171442522-171442522 C>G_RSGGHRIPGLNCSGQGRACYRWSKR
13:32747675-32747675 G>A	0.0	4234	LUNG	-	-	-	-	FRY	ENST00000380250,p.G775R|uc001utx.3,p.G775R|NM_023037,p.G775R	protein_coding, processed_transcript, nonsense_mediated_decay	uc001utx.3	nonsynonymous SNV	exon19	c.G2323A	p.G775R	ILKEIRALFIALGQPEDDDRPMIDV	ILKEIRALFIALRQPEDDDRPMIDV	5.0	10.0	unscreened	-	4234_13:32747675-32747675 G>A_ILKEIRALFIALRQPEDDDRPMIDV
1:248004682-248004682 G>T	0.0	4234	LUNG	-	-	-	-	OR11L1	ENST00000355784,p.Q173K|NM_001001959,p.Q173K|uc001idn.1,p.Q173K	protein_coding	uc001idn.1	nonsynonymous SNV	exon1	c.C517A	p.Q173K	LMISRLDFCGRNQINHFFCDLPPLM	LMISRLDFCGRNKINHFFCDLPPLM	1.0	10.0	unscreened	-	4234_1:248004682-248004682 G>T_LMISRLDFCGRNKINHFFCDLPPLM
1:248801712-248801712 G>T	0.0	4234	LUNG	-	-	-	-	OR2T35	ENST00000317450,p.P283H|uc001ies.1,p.P283H|NM_001001827,p.P283H	protein_coding	uc001ies.1	nonsynonymous SNV	exon1	c.C848A	p.P283H	DKVVSAFYTILTPMLNPLIYSLRNK	DKVVSAFYTILTHMLNPLIYSLRNK	1.0	4.0	unscreened	-	4234_1:248801712-248801712 G>T_DKVVSAFYTILTHMLNPLIYSLRNK
6:130761692-130761692 G>T	0.0	4234	LUNG	-	-	-	-	TMEM200A	uc010kfi.4,p.R42L|NM_001258278,p.R42L|ENST00000296978,p.R42L|uc010kfh.4,p.R42L|uc003qcb.3,p.R42L|NM_001258277,p.R42L|ENST00000545622,p.R42L|uc003qca.4,p.R42L|ENST00000392429,p.R42L|uc021zfg.1,p.R42L|NM_001258276,p.R42L|NM_052913,p.R42L	protein_coding	uc021zfg.1	nonsynonymous SNV	exon1	c.G125T	p.R42L	PSPATQEKKPIRRRPRADVVVVRGK	PSPATQEKKPIRLRPRADVVVVRGK	6.0	9.0	unscreened	-	4234_6:130761692-130761692 G>T_PSPATQEKKPIRLRPRADVVVVRGK
13:25671070-25671070 A>T	0.0	4234	LUNG	-	-	-	-	PABPC3	ENST00000281589,p.Q245L|uc001upy.3,p.Q245L|NM_030979,p.Q245L	protein_coding	uc001upy.3	nonsynonymous SNV	exon1	c.A734T	p.Q245L	FGFVSFERHEDAQKAVDEMNGKELN	FGFVSFERHEDALKAVDEMNGKELN	6.0	10.0	unscreened	-	4234_13:25671070-25671070 A>T_FGFVSFERHEDALKAVDEMNGKELN
19:57326155-57326155 C>A	0.0	4234	LUNG	-	-	-	-	PEG3	ENST00000598410,p.A1095S|uc010etr.2,p.A1219S|NM_001146187,p.A1095S|ENST00000599534,p.A1219S|ENST00000599577,p.A1219S|ENST00000593695,p.A1093S|uc002qnx.2,p.A1093S|ENST00000423103,p.A1219S|uc002qnv.2,p.A1219S|NM_001146184,p.A1219S|uc002qnt.2,p.A1190S|NM_001146185,p.A1093S|ENST00000326441,p.A1219S|NM_006210,p.A1219S|uc002qnu.2,p.A1219S|uc002qnw.2,p.A1095S|NM_001146186,p.A1219S	protein_coding, processed_transcript	uc010etr.2	nonsynonymous SNV	exon9	c.G3655T	p.A1219S	KPRRNRAAERNPALAGSAIRCLLCG	KPRRNRAAERNPSLAGSAIRCLLCG	5.0	9.0	unscreened	-	4234_19:57326155-57326155 C>A_KPRRNRAAERNPSLAGSAIRCLLCG
17:39768503-39768503 T>A	0.0	4234	LUNG	-	-	-	-	KRT16	uc002hxg.4,p.E146D|uc021txm.1,p.E146D|NM_005557,p.E146D|ENST00000301653,p.E146D	retained_intron, protein_coding	uc021txm.1	nonsynonymous SNV	exon1	c.A438T	p.E146D	KVRALEEANADLEVKIRDWYQRQRP	KVRALEEANADLDVKIRDWYQRQRP	7.0	6.0	unscreened	-	4234_17:39768503-39768503 T>A_KVRALEEANADLDVKIRDWYQRQRP
8:12285103-12285103 C>T	0.0	4234	LUNG	-	rs2698898	-	-	FAM86B2	ENST00000393715,p.E91K|uc011kxt.2,p.E91K	protein_coding	uc011kxt.2	nonsynonymous SNV	exon3	c.G271A	p.E91K	TWCPSCPCRTPVEVKELGAGEKLGC	TWCPSCPCRTPVKVKELGAGEKLGC	6.0	10.0	unscreened	-	4234_8:12285103-12285103 C>T_TWCPSCPCRTPVKVKELGAGEKLGC
21:44450187-44450187 G>T	1.0	4234	LUNG	-	-	-	-	PKNOX1	NM_004571,p.L429F|ENST00000432907,p.L312F|ENST00000291547,p.L429F|NM_001286258,p.L312F|uc002zcq.1,p.L429F|uc011aex.1,p.L312F	retained_intron, protein_coding, nonsense_mediated_decay	uc011aex.1	nonsynonymous SNV	exon10	c.G936T	p.L312F	GALAPAHISGLVLENSDSLQ	GALAPAHISGLVFENSDSLQ	8.0	2.0	-	-	4234_21:44450187-44450187 G>T_GALAPAHISGLVFENSDSLQ
19:613889-613889 C>A	0.0	4234	LUNG	-	-	-	-	HCN2	uc002lpe.3,p.S621R|ENST00000251287,p.S621R|NM_001194,p.S621R	protein_coding	uc002lpe.3	nonsynonymous SNV	exon7	c.C1863A	p.S621R	EICLLTRGRRTASVRADTYCRLYSL	EICLLTRGRRTARVRADTYCRLYSL	3.0	10.0	unscreened	-	4234_19:613889-613889 C>A_EICLLTRGRRTARVRADTYCRLYSL
11:119057299-119057299 G>A	0.0	4234	LUNG	-	-	-	-	PDZD3	ENST00000355547,p.R77K|uc001pvy.3,p.R77K|ENST00000533688,p.R77K|NM_001168468,p.R77K|ENST00000531114,p.R143K|ENST00000525131,p.R64K|uc001pwb.3,p.R143K|ENST00000322712,p.R77K|ENST00000392817,p.R143K|uc001pvz.3,p.R77K|NM_024791,p.R77K|uc010rzd.2,p.R64K	retained_intron, protein_coding, nonsense_mediated_decay	uc010rzd.2	nonsynonymous SNV	exon4	c.G191A	p.R64K	QQELGRAGHVVCRVDPGTSAQRQGL	QQELGRAGHVVCKVDPGTSAQRQGL	5.0	7.0	unscreened	-	4234_11:119057299-119057299 G>A_QQELGRAGHVVCKVDPGTSAQRQGL
20:47249152-47249152 C>A	0.0	4234	LUNG	-	-	-	-	PREX1	ENST00000371941,p.E1431D|uc002xtw.1,p.E1431D|NM_020820,p.E1431D|ENST00000396220,p.E1431D|uc002xtv.1,p.E728D	protein_coding, processed_transcript, nonsense_mediated_decay	uc002xtw.1	nonsynonymous SNV	exon34	c.G4293T	p.E1431D	NYVANTNVFYHIEGSRQALKVIFYL	NYVANTNVFYHIDGSRQALKVIFYL	8.0	4.0	unscreened	-	4234_20:47249152-47249152 C>A_NYVANTNVFYHIDGSRQALKVIFYL
10:73490226-73490226 G>A	0.0	4234	LUNG	-	-	-	-	CDH23	uc001jsc.1,p.V2M	protein_coding, processed_transcript	uc001jsc.1	nonsynonymous SNV	exon3	c.G4A	p.V2M	MVIVYVEDINDEAP	MMIVYVEDINDEAP	5.0	9.0	unscreened	-	4234_10:73490226-73490226 G>A_MMIVYVEDINDEAP
16:67220497-67220497 C>T	0.0	4234	LUNG	-	-	-	-	EXOC3L1	uc010vje.1,p.G347S|NM_178516,p.G450S|ENST00000545725,p.G347S|uc002erw.1,p.G101S|ENST00000314586,p.G450S|uc002ery.1,p.G352S|uc002erx.1,p.G450S|ENST00000563889,p.G352S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vje.1	nonsynonymous SNV	exon7	c.G1039A	p.G347S	SLVSESLQQRVHGMALSELGTFLRS	SLVSESLQQRVHSMALSELGTFLRS	5.0	10.0	unscreened	-	4234_16:67220497-67220497 C>T_SLVSESLQQRVHSMALSELGTFLRS
2:178096081-178096081 A>T	1.0	4234	LUNG	-	-	-	1	NFE2L2	ENST00000449627,p.V145E|uc002uli.5,p.V401E|ENST00000397062,p.V417E|NM_001145412,p.V401E|uc002ulh.5,p.V417E|ENST00000464747,p.V401E|NM_001145413,p.V394E|uc010zfa.3,p.V394E|ENST00000446151,p.V394E|NM_006164,p.V417E|ENST00000397063,p.V401E|uc002ulg.5,p.V401E	retained_intron, protein_coding	uc010zfa.3	nonsynonymous SNV	exon5	c.T1181A	p.V394E	QPLSPSQGQSTHVHDAQCENTPEKE	QPLSPSQGQSTHEHDAQCENTPEKE	10.0	7.0	-	-	4234_2:178096081-178096081 A>T_QPLSPSQGQSTHEHDAQCENTPEKE
7:120911390-120911390 A>G	0.0	4234	LUNG	-	-	-	-	CPED1	ENST00000310396,p.K925R|NM_024913,p.K925R|uc003vjq.4,p.K925R	protein_coding, processed_transcript, nonsense_mediated_decay	uc003vjq.4	nonsynonymous SNV	exon22	c.A2774G	p.K925R	LWKENLIILDTAKKHGYEVVDTFTI	LWKENLIILDTARKHGYEVVDTFTI	7.0	8.0	unscreened	-	4234_7:120911390-120911390 A>G_LWKENLIILDTARKHGYEVVDTFTI
6:131148632-131148632 C>A	0.0	4234	LUNG	-	-	-	-	SMLR1	NM_001195597,p.P27T|ENST00000541421,p.P27T|uc011ebx.2,p.P27T	protein_coding	uc011ebx.2	nonsynonymous SNV	exon1	c.C79A	p.P27T	TQRKAALVLSVTPMVPVGSVWLAMS	TQRKAALVLSVTTMVPVGSVWLAMS	1.0	7.0	unscreened	-	4234_6:131148632-131148632 C>A_TQRKAALVLSVTTMVPVGSVWLAMS
19:56499215-56499215 C>A	0.0	4234	LUNG	-	-	-	-	NLRP8	ENST00000291971,p.S1028Y|ENST00000590542,p.S1009Y|NM_176811,p.S1028Y|uc002qmh.3,p.S1028Y|uc010etg.3,p.S1009Y	protein_coding	uc010etg.3	nonsynonymous SNV	exon10	c.C3026A	p.S1009Y	FCIPAWTRITSFSPTPHPPDFTGKS	FCIPAWTRITSFYPTPHPPDFTGKS	1.0	6.0	unscreened	-	4234_19:56499215-56499215 C>A_FCIPAWTRITSFYPTPHPPDFTGKS
4:122085250-122085250 T>C	0.0	4234	LUNG	-	-	-	-	TNIP3	NM_001128843,p.M81V|ENST00000509841,p.M88V|uc011cgj.2,p.M81V|uc021xrj.1,p.M88V|ENST00000507879,p.M81V|NM_001244764,p.M88V	retained_intron, protein_coding, processed_transcript	uc021xrj.1	nonsynonymous SNV	exon4	c.A262G	p.M88V	ASMAHFVQGTSRMIAAESSTEHKEC	ASMAHFVQGTSRVIAAESSTEHKEC	5.0	6.0	unscreened	-	4234_4:122085250-122085250 T>C_ASMAHFVQGTSRVIAAESSTEHKEC
17:61987536-61987536 G>C	0.0	4234	LUNG	-	-	-	-	CSHL1	ENST00000561003,p.Q70E|ENST00000450719,p.Q59E	retained_intron, protein_coding, ambiguous_orf	ENST00000561003	nonsynonymous SNV	exon3	c.C208G	p.Q70E	DYHLLKDLEEGIQMLMGVRVAPGVP	DYHLLKDLEEGIEMLMGVRVAPGVP	1.0	8.0	unscreened	-	4234_17:61987536-61987536 G>C_DYHLLKDLEEGIEMLMGVRVAPGVP
3:9101971-9101971 C>A	0.0	4234	LUNG	-	-	-	2	SRGAP3	NM_001033117,p.A249S|uc003brk.4,p.A249S|uc003brg.2,p.A249S|ENST00000383836,p.A249S|NM_014850,p.A249S|uc003brf.2,p.A249S|uc003brj.1,p.A109S|ENST00000360413,p.A249S	retained_intron, protein_coding, processed_transcript	uc003brk.4	nonsynonymous SNV	exon6	c.G745T	p.A249S	TKARNDYLLNLAATNAAISKYYIHD	TKARNDYLLNLASTNAAISKYYIHD	5.0	8.0	unscreened	-	4234_3:9101971-9101971 C>A_TKARNDYLLNLASTNAAISKYYIHD
14:101347253-101347253 G>T	0.0	4234	LUNG	-	-	-	-	RTL1	uc010txj.1,p.F1291L|NM_001134888,p.F1291L|ENST00000534062,p.F1291L	protein_coding	uc010txj.1	nonsynonymous SNV	exon1	c.C3873A	p.F1291L	RPRHLMDPQVLEFLGSRLLHIHSAD	RPRHLMDPQVLELLGSRLLHIHSAD	1.0	5.0	unscreened	-	4234_14:101347253-101347253 G>T_RPRHLMDPQVLELLGSRLLHIHSAD
6:24178777-24178777 C>T	1.0	4234	LUNG	-	-	-	-	DCDC2	NM_016356,p.M369I|NM_001195610,p.M369I|uc003ndw.3,p.M120I|ENST00000378450,p.M122I|ENST00000378454,p.M369I|uc003ndy.3,p.M369I|uc003ndx.3,p.M369I	protein_coding	uc003ndy.3	nonsynonymous SNV	exon10	c.G1107A	p.M369I	NKDAEQKEDFSGMNGDLEEEGGREA	NKDAEQKEDFSGINGDLEEEGGREA	6.0	10.0	-	-	4234_6:24178777-24178777 C>T_NKDAEQKEDFSGINGDLEEEGGREA
7:103474068-103474068 G>T	0.0	4234	LUNG	-	-	-	-	RELN	uc022ajr.1,p.A130D|ENST00000428762,p.A130D|NM_005045,p.A130D|ENST00000424685,p.A130D|ENST00000343529,p.A130D|uc010liz.3,p.A130D|uc022ajq.1,p.A130D|NM_173054,p.A130D	retained_intron, protein_coding, processed_transcript	uc022ajr.1	nonsynonymous SNV	exon3	c.C389A	p.A130D	HQFGNQFMCSVVASHVSHLPTTNLS	HQFGNQFMCSVVDSHVSHLPTTNLS	1.0	9.0	unscreened	-	4234_7:103474068-103474068 G>T_HQFGNQFMCSVVDSHVSHLPTTNLS
17:11568283-11568283 C>A	0.0	4234	LUNG	-	-	-	-	DNAH9	ENST00000454412,p.T910N|uc010coo.3,p.T204N|uc002gne.3,p.T910N|ENST00000262442,p.T910N|NM_001372,p.T910N	retained_intron, protein_coding, processed_transcript	uc010coo.3	nonsynonymous SNV	exon3	c.C611A	p.T204N	AIECSLKYLLENTECKAGLTPIFEA	AIECSLKYLLENNECKAGLTPIFEA	1.0	8.0	unscreened	-	4234_17:11568283-11568283 C>A_AIECSLKYLLENNECKAGLTPIFEA
X:47446062-47446062 G>T	0.0	4234	LUNG	-	-	-	-	TIMP1	NM_003254,p.W199L|ENST00000218388,p.W199L|uc004dif.3,p.W199L|ENST00000377017,p.W135L	protein_coding	uc004dif.3	nonsynonymous SNV	exon6	c.G596T	p.W199L	LACLPREPGLCTWQSLRSQIA	LACLPREPGLCTLQSLRSQIA	10.0	6.0	-	-	4234_X:47446062-47446062 G>T_LACLPREPGLCTLQSLRSQIA
12:18872365-18872365 C>A	0.0	4234	LUNG	-	-	-	-	PLCZ1	ENST00000541695,p.S53I|ENST00000266505,p.S190I|ENST00000447925,p.S188I|uc021qvx.2,p.S190I|NM_033123,p.S190I|uc001rdv.5,p.S86I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qvx.2	nonsynonymous SNV	exon5	c.G569T	p.S190I	QLLGPSDLWGYVSALVKGCRCLEID	QLLGPSDLWGYVIALVKGCRCLEID	1.0	10.0	unscreened	-	4234_12:18872365-18872365 C>A_QLLGPSDLWGYVIALVKGCRCLEID
8:73480280-73480280 G>T	0.0	4234	LUNG	-	-	-	-	KCNB2	NM_004770,p.R104L|uc003xzb.3,p.R104L|ENST00000523207,p.R104L	protein_coding	uc003xzb.3	nonsynonymous SNV	exon2	c.G311T	p.R104L	HPGAFTSILNFYRTGKLHMMEEMCA	HPGAFTSILNFYLTGKLHMMEEMCA	1.0	5.0	unscreened	-	4234_8:73480280-73480280 G>T_HPGAFTSILNFYLTGKLHMMEEMCA
9:137648615-137648615 G>T	0.0	4234	LUNG	-	-	-	-	COL5A1	NM_001278074,p.R611L|uc031tfl.1,p.R611L|uc004cfe.4,p.R611L|NM_000093,p.R611L|ENST00000371817,p.R611L	retained_intron, protein_coding, processed_transcript	uc031tfl.1	nonsynonymous SNV	exon17	c.G1832T	p.R611L	PPGPAGKPGRRGRAGSDGARGMPGQ	PPGPAGKPGRRGLAGSDGARGMPGQ	9.0	6.0	-	-	4234_9:137648615-137648615 G>T_PPGPAGKPGRRGLAGSDGARGMPGQ
17:12860030-12860030 A>G	0.0	4234	LUNG	-	-	ID=COSM704976;OCCURENCE=1(lung)	-	ARHGAP44	uc002gnt.1,p.I160V|uc010vvl.2,p.I437V|uc002gnr.4,p.I437V|uc010vvk.2,p.I437V|NM_014859,p.I437V|ENST00000379672,p.I437V|uc010vvm.2,p.I437V|ENST00000583608,p.I41V|ENST00000544416,p.I437V|ENST00000340825,p.I437V|ENST00000262444,p.I437V|uc002gns.4,p.I237V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, lincRNA	uc010vvm.2	nonsynonymous SNV	exon15	c.A1309G	p.I437V	TVSLQIVGIIEPIIQHADWFFPGEI	TVSLQIVGIIEPVIQHADWFFPGEI	4.0	9.0	-	-	4234_17:12860030-12860030 A>G_TVSLQIVGIIEPVIQHADWFFPGEI
12:97085075-97085075 G>T	0.0	4234	LUNG	-	-	-	-	CDK17,NEDD1	ENST00000524981,p.R535M|uc021rcc.1,p.R509M	-	uc021rcc.1	nonsynonymous SNV	exon11	c.G1526T	p.R509M	SLYYIIRELHFVRQNLIVLPLLALY	SLYYIIRELHFVMQNLIVLPLLALY	1.0	2.0	unscreened	-	4234_12:97085075-97085075 G>T_SLYYIIRELHFVMQNLIVLPLLALY
15:63004122-63004122 G>T	0.0	4234	LUNG	-	-	-	-	TLN2	uc002alb.4,p.R827L|ENST00000561311,p.R827L|ENST00000306829,p.R827L|NM_015059,p.R827L	retained_intron, protein_coding, processed_transcript	uc002alb.4	nonsynonymous SNV	exon19	c.G2480T	p.R827L	IFSSMGDAGEMVRQARVLAQATSDL	IFSSMGDAGEMVLQARVLAQATSDL	5.0	8.0	unscreened	-	4234_15:63004122-63004122 G>T_IFSSMGDAGEMVLQARVLAQATSDL
8:105026798-105026798 G>C	0.0	4234	LUNG	-	-	-	-	RIMS2	ENST00000507740,p.G911R|NM_014677,p.G911R|uc003yls.3,p.G837R|ENST00000436393,p.G837R|ENST00000262231,p.G936R|uc003ylp.3,p.G1097R|ENST00000406091,p.G1097R|uc003ylr.3,p.G936R|NM_001100117,p.G1097R|uc003ylq.3,p.G911R|ENST00000408894,p.G911R|uc003ylw.2,p.G911R|ENST00000504942,p.G1097R|NM_001282881,p.G936R	retained_intron, protein_coding, processed_transcript	uc003ylw.2	nonsynonymous SNV	exon17	c.G2731C	p.G911R	TSPSSTPVAGRRGRQLPQLPPKGTL	TSPSSTPVAGRRRRQLPQLPPKGTL	1.0	7.0	unscreened	-	4234_8:105026798-105026798 G>C_TSPSSTPVAGRRRRQLPQLPPKGTL
17:47115735-47115735 C>-	0.0	4234	LUNG	-	-	-	-	IGF2BP1	NM_006546,p.P203fs|uc002iom.3,p.P203fs|ENST00000290341,p.P203fs	retained_intron, protein_coding, processed_transcript	uc002iom.3	frameshift deletion	exon6	c.607delC	p.P203fs	QQQVDIPLRLLVPTQYVGAIIGKEGA	QQQVDIPLRLLVPPSMWVPLLARRGPPSATSQNRPSPR	2.0	5.0	unscreened	-	4234_17:47115735-47115735 C>-_QQQVDIPLRLLVPPSMWVPLLARRGPPSATSQNRPSPR
12:78401102-78401102 G>T	0.0	4234	LUNG	-	-	-	-	NAV3	uc001syo.3,p.G595V|ENST00000228327,p.G595V|NM_001024383,p.G595V|NM_014903,p.G595V|ENST00000536525,p.G595V|uc001syp.3,p.G595V|ENST00000397909,p.G595V|ENST00000549464,p.G595V|ENST00000266692,p.G595V	retained_intron, protein_coding, processed_transcript	uc001syp.3	nonsynonymous SNV	exon8	c.G1784T	p.G595V	LEGREAGQASPSGSCTMTVAQSSGQ	LEGREAGQASPSVSCTMTVAQSSGQ	5.0	5.0	unscreened	-	4234_12:78401102-78401102 G>T_LEGREAGQASPSVSCTMTVAQSSGQ
1:232942465-232942465 G>T	0.0	4234	LUNG	-	-	-	-	MAP10	ENST00000418460,p.A566S|NM_019090,p.A566S|uc001hvh.2,p.A566S	protein_coding	uc001hvh.2	nonsynonymous SNV	exon1	c.G1696T	p.A566S	PVTSPAHIHPHLAWLYRTEDKKSPE	PVTSPAHIHPHLSWLYRTEDKKSPE	5.0	10.0	unscreened	-	4234_1:232942465-232942465 G>T_PVTSPAHIHPHLSWLYRTEDKKSPE
12:3747336-3747336 G>T	0.0	4234	LUNG	-	-	-	-	CRACR2A	NM_001144958,p.P519H|uc010sen.1,p.P519H|ENST00000440314,p.P519H	protein_coding, processed_transcript, nonsense_mediated_decay	uc010sen.1	nonsynonymous SNV	exon14	c.C1556A	p.P519H	GQIPEAPPLKLTPTSPRGQPVGKEA	GQIPEAPPLKLTHTSPRGQPVGKEA	5.0	10.0	unscreened	-	4234_12:3747336-3747336 G>T_GQIPEAPPLKLTHTSPRGQPVGKEA
11:6962811-6962811 G>A	0.0	4234	LUNG	-	-	-	-	ZNF215	uc001mez.1,p.C137Y|ENST00000414517,p.C137Y|ENST00000529903,p.C137Y|ENST00000278319,p.C137Y|NM_013250,p.C137Y|uc001mey.3,p.C137Y	protein_coding, processed_transcript	uc001mez.1	nonsynonymous SNV	exon2	c.G410A	p.C137Y	DVIEMLEDEDMPCKDSALQMGSIKE	DVIEMLEDEDMPYKDSALQMGSIKE	5.0	10.0	unscreened	-	4234_11:6962811-6962811 G>A_DVIEMLEDEDMPYKDSALQMGSIKE
15:22368933-22368933 T>A	0.0	4234	LUNG	-	-	-	-	OR4M2	ENST00000332663,p.F120I|uc010tzu.2,p.F120I|NM_001004719,p.F120I	protein_coding	uc010tzu.2	nonsynonymous SNV	exon1	c.T358A	p.F120I	GASEMFLLTVMAFDLYTAICRPLHY	GASEMFLLTVMAIDLYTAICRPLHY	1.0	3.0	unscreened	-	4234_15:22368933-22368933 T>A_GASEMFLLTVMAIDLYTAICRPLHY
2:71906360-71906360 C>G	0.0	4234	LUNG	-	-	-	-	DYSF	NM_001130455,p.L1982V|uc002sig.4,p.L1967V|NM_001130977,p.L1988V|uc010yqy.2,p.L862V|uc010fef.3,p.L2019V|NM_001130978,p.L2002V|NM_001130982,p.L2013V|ENST00000409651,p.L2013V|NM_001130980,p.L1998V|uc010fen.3,p.L2020V|NM_001130976,p.L1967V|NM_001130981,p.L2019V|NM_001130983,p.L2003V|NM_001130987,p.L2020V|uc010fej.3,p.L1989V|ENST00000409762,p.L1998V|uc010fem.3,p.L2003V|uc010feo.3,p.L2013V|NM_001130985,p.L1999V|NM_001130979,p.L2012V|ENST00000410020,p.L2020V|ENST00000413539,p.L2012V|uc010fek.3,p.L1999V|ENST00000409744,p.L1989V|uc010yqz.2,p.L742V|uc010fel.3,p.L1968V|uc010fei.3,p.L1998V|NM_003494,p.L1981V|ENST00000258104,p.L1981V|NM_001130984,p.L1989V|uc002sif.3,p.L1982V|ENST00000410041,p.L1999V|uc002sie.3,p.L1981V|ENST00000409366,p.L2003V|NM_001130986,p.L1968V|uc010feh.3,p.L1988V|ENST00000409582,p.L2019V|ENST00000429174,p.L2002V|uc010feg.3,p.L2012V|ENST00000394120,p.L1982V|uc010fee.3,p.L2002V	protein_coding, processed_transcript	uc010yqz.2	nonsynonymous SNV	exon19	c.C2224G	p.L742V	WPCVAEEGEKKILAGKLEMTLEIVA	WPCVAEEGEKKIVAGKLEMTLEIVA	7.0	7.0	unscreened	-	4234_2:71906360-71906360 C>G_WPCVAEEGEKKIVAGKLEMTLEIVA
1:16354365-16354365 C>G	0.0	4234	LUNG	-	-	-	-	CLCNKA	ENST00000420078,p.F277L|NM_004070,p.F277L|NM_001042704,p.F277L|uc010obw.2,p.F234L|ENST00000331433,p.F277L|ENST00000375692,p.F277L|ENST00000439316,p.F234L|uc001axu.3,p.F277L|NM_001257139,p.F234L|uc001axv.3,p.F277L	protein_coding, processed_transcript	uc010obw.2	nonsynonymous SNV	exon8	c.C702G	p.F234L	SLYKTSFRVDVPFDLPEIFFFVALG	SLYKTSFRVDVPLDLPEIFFFVALG	2.0	5.0	unscreened	-	4234_1:16354365-16354365 C>G_SLYKTSFRVDVPLDLPEIFFFVALG
6:32808750-32808750 C>-	1.0	4234	LUNG	-	-	-	-	PSMB8	ENST00000374881,p.E269fs|NM_148919,p.E273fs|NM_004159,p.E269fs|uc003ocf.3,p.E269fs|ENST00000374882,p.E273fs|ENST00000395339,p.E249fs|uc003oce.3,p.E273fs	retained_intron, protein_coding	uc003ocf.3	frameshift deletion	exon6	c.805delG	p.E269fs	STDVSDLLHQYREANQ	STDVSDLLHQYRKPIN	10.0	9.0	-	 reached end of cDNA	4234_6:32808750-32808750 C>-_STDVSDLLHQYRKPIN
7:150094389-150094389 G>T	0.0	4234	LUNG	-	-	-	-	ZNF775	NM_173680,p.G274W|uc003whf.1,p.G274W|ENST00000329630,p.G274W	protein_coding, processed_transcript	uc003whf.1	nonsynonymous SNV	exon3	c.G820T	p.G274W	QPGARAAVSGPEGPGEPRQFICNEC	QPGARAAVSGPEWPGEPRQFICNEC	7.0	3.0	unscreened	-	4234_7:150094389-150094389 G>T_QPGARAAVSGPEWPGEPRQFICNEC
12:81026049-81026049 C>A	0.0	4234	LUNG	-	-	-	-	PTPRQ	ENST00000266688,p.T1918K	retained_intron, protein_coding, processed_transcript	ENST00000266688	nonsynonymous SNV	exon39	c.C5753A	p.T1918K	VTLCILSIILLGTAIFAFARIRQKQ	VTLCILSIILLGKAIFAFARIRQKQ	1.0	8.0	unscreened	-	4234_12:81026049-81026049 C>A_VTLCILSIILLGKAIFAFARIRQKQ
5:140474676-140474676 C>A	1.0	4234	LUNG	-	-	-	-	PCDHB2	uc003lil.3,p.T101K|ENST00000194155,p.T101K|NM_018936,p.T101K	protein_coding	uc003lil.3	nonsynonymous SNV	exon1	c.C302A	p.T101K	NEKLDREELCGPTEPCVLPFQVLLE	NEKLDREELCGPKEPCVLPFQVLLE	6.0	7.0	-	-	4234_5:140474676-140474676 C>A_NEKLDREELCGPKEPCVLPFQVLLE
11:92600166-92600166 C>A	0.0	4234	LUNG	-	-	-	2	FAT3	uc001pdi.4,p.T413K|ENST00000409404,p.T3973K|NM_001008781,p.T3973K|ENST00000533797,p.T308K|ENST00000298047,p.T3973K|uc001pdj.4,p.T3973K|ENST00000525166,p.T3823K	retained_intron, protein_coding, processed_transcript	uc001pdj.4	nonsynonymous SNV	exon21	c.C11918A	p.T3973K	LVQADNIRSLTDTRVTQVLSGFQGC	LVQADNIRSLTDKRVTQVLSGFQGC	2.0	8.0	unscreened	-	4234_11:92600166-92600166 C>A_LVQADNIRSLTDKRVTQVLSGFQGC
11:30925181-30925181 T>A	0.0	4234	LUNG	-	-	-	-	DCDC5	NM_020869,p.K560I|uc009yjk.1,p.K901I|ENST00000597505,p.K1453I|uc021qfk.1,p.K560I|ENST00000406071,p.K188I|ENST00000339794,p.K532I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qfk.1	nonsynonymous SNV	exon13	c.A1679T	p.K560I	CTEQLGLARAASKVYTKDGTPIFTL	CTEQLGLARAASIVYTKDGTPIFTL	2.0	7.0	unscreened	-	4234_11:30925181-30925181 T>A_CTEQLGLARAASIVYTKDGTPIFTL
11:103006347-103006347 A>G	0.0	4234	LUNG	-	-	-	-	DYNC2H1	uc001pho.2,p.I777V|ENST00000375735,p.I777V|NM_001080463,p.I777V|NM_001377,p.I777V|uc001phn.1,p.I777V|ENST00000398093,p.I777V	retained_intron, protein_coding, nonsense_mediated_decay	uc001pho.2	nonsynonymous SNV	exon16	c.A2329G	p.I777V	LEALNENLPEINIDLTYKQGRLQFR	LEALNENLPEINVDLTYKQGRLQFR	5.0	1.0	unscreened	-	4234_11:103006347-103006347 A>G_LEALNENLPEINVDLTYKQGRLQFR
4:72649728-72649728 C>A	0.0	4234	LUNG	-	-	-	-	GC	NM_001204307,p.R22M|ENST00000504199,p.R22M|uc010iif.3,p.R22M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010iif.3	nonsynonymous SNV	exon2	c.G65T	p.R22M	GGAARLSGRKMKRVLVLLLAVAFGH	GGAARLSGRKMKMVLVLLLAVAFGH	1.0	8.0	unscreened	-	4234_4:72649728-72649728 C>A_GGAARLSGRKMKMVLVLLLAVAFGH
5:24509737-24509737 T>-	0.0	4234	LUNG	-	-	-	2	CDH10	ENST00000510477,p.E398fs|ENST00000264463,p.E398fs|uc003jgr.2,p.E398fs|NM_006727,p.E398fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jgr.2	frameshift deletion	exon7	c.1194delA	p.E398fs	RSSYLFEVHEDIEVGTIIGTVMARDP	RSSYLFEVHEDIEWAQSLVL	1.0	3.0	unscreened	-	4234_5:24509737-24509737 T>-_RSSYLFEVHEDIEWAQSLVL
11:134162026-134162026 G>T	0.0	4234	LUNG	-	-	-	-	GLB1L3	ENST00000431683,p.A244S|NM_001080407,p.A244S|uc010sct.2,p.A96S|ENST00000389887,p.A244S|uc010scs.2,p.A244S|uc009zdf.3,p.A244S	retained_intron, protein_coding, nonsense_mediated_decay	uc010sct.2	nonsynonymous SNV	exon6	c.G286T	p.A96S	NKDKTYMPYLHKALLRRGIVELLLT	NKDKTYMPYLHKSLLRRGIVELLLT	1.0	1.0	unscreened	-	4234_11:134162026-134162026 G>T_NKDKTYMPYLHKSLLRRGIVELLLT
19:58867620-58867620 C>A	0.0	4234	LUNG	-	-	-	-	ZNF497	ENST00000311044,p.R461L|uc002qsh.2,p.R461L|uc021vcw.1,p.R461L|NM_198458,p.R461L|ENST00000425453,p.R461L|uc002qsi.2,p.R461L|NM_001207009,p.R461L	protein_coding	uc021vcw.1	nonsynonymous SNV	exon1	c.G1382T	p.R461L	KAFVRKSELLSHRRTHTGERPYACG	KAFVRKSELLSHLRTHTGERPYACG	3.0	10.0	unscreened	-	4234_19:58867620-58867620 C>A_KAFVRKSELLSHLRTHTGERPYACG
1:209782342-209782342 C>A	0.0	4234	LUNG	-	-	-	-	CAMK1G	NM_020439,p.P218Q|ENST00000009105,p.P218Q|uc001hhd.3,p.P218Q|uc001hhe.3,p.P218Q|uc001hhf.4,p.P218Q|ENST00000361322,p.P218Q	protein_coding, processed_transcript	uc001hhf.4	nonsynonymous SNV	exon8	c.C653A	p.P218Q	GVITYILLCGYPPFYEETESKLFEK	GVITYILLCGYPQFYEETESKLFEK	4.0	1.0	unscreened	-	4234_1:209782342-209782342 C>A_GVITYILLCGYPQFYEETESKLFEK
X:153072792-153072792 G>C	0.0	4234	LUNG	-	-	-	-	PDZD4	uc004fix.2,p.A14G	protein_coding, processed_transcript	uc004fix.2	nonsynonymous SNV	exon4	c.C41G	p.A14G	TAPPISHEYYDPAEFMEGGPQEADR	TAPPISHEYYDPGEFMEGGPQEADR	5.0	2.0	unscreened	-	4234_X:153072792-153072792 G>C_TAPPISHEYYDPGEFMEGGPQEADR
X:153072792-153072792 G>C	0.0	4234	LUNG	-	-	-	-	PDZD4	ENST00000393758,p.A35G|uc004fja.1,p.A116G|uc004fiy.1,p.A35G	protein_coding, processed_transcript	uc004fja.1	nonsynonymous SNV	exon3	c.C347G	p.A116G	ELPPISHEYYDPAEFMEGGPQEADR	ELPPISHEYYDPGEFMEGGPQEADR	5.0	2.0	unscreened	-	4234_X:153072792-153072792 G>C_ELPPISHEYYDPGEFMEGGPQEADR
X:153072792-153072792 G>C	0.0	4234	LUNG	-	-	-	-	PDZD4	uc004fiz.1,p.A110G|ENST00000164640,p.A110G|NM_032512,p.A110G	protein_coding, processed_transcript	uc004fiz.1	nonsynonymous SNV	exon3	c.C329G	p.A110G	EPPPISHEYYDPAEFMEGGPQEADR	EPPPISHEYYDPGEFMEGGPQEADR	5.0	2.0	unscreened	-	4234_X:153072792-153072792 G>C_EPPPISHEYYDPGEFMEGGPQEADR
17:20149384-20149384 G>T	0.0	4234	LUNG	-	-	-	2	SPECC1	NM_001033553,p.G833C|NM_001033555,p.G752C|uc002gwq.3,p.G833C|ENST00000395530,p.G752C|uc002gwv.3,p.G752C|ENST00000395527,p.G833C|uc002gws.3,p.G833C|uc010vzf.2,p.G173C|ENST00000536879,p.G173C|NM_001243439,p.G833C|ENST00000261503,p.G833C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vzf.2	nonsynonymous SNV	exon5	c.G517T	p.G173C	KSLIKSFDLGRPGGAGQNISVHKTP	KSLIKSFDLGRPCGAGQNISVHKTP	8.0	10.0	-	-	4234_17:20149384-20149384 G>T_KSLIKSFDLGRPCGAGQNISVHKTP
7:147600680-147600680 G>T	0.0	4234	LUNG	-	-	-	2	CNTNAP2	ENST00000361727,p.V708F|uc003weu.2,p.V708F|ENST00000455301,p.V99F|NM_014141,p.V708F	protein_coding, processed_transcript	uc003weu.2	nonsynonymous SNV	exon14	c.G2122T	p.V708F	LNTPDGSPYTWWVGKANEKHYYWGG	LNTPDGSPYTWWFGKANEKHYYWGG	6.0	7.0	unscreened	-	4234_7:147600680-147600680 G>T_LNTPDGSPYTWWFGKANEKHYYWGG
6:138576689-138576689 C>T	0.0	4234	LUNG	-	-	-	-	KIAA1244	uc003qhu.3,p.P296L|NM_020340,p.P296L|ENST00000251691,p.P296L	protein_coding	uc003qhu.3	nonsynonymous SNV	exon10	c.C887T	p.P296L	STSTSLESDSASPGVSDHGRGSGCS	STSTSLESDSASLGVSDHGRGSGCS	5.0	10.0	unscreened	-	4234_6:138576689-138576689 C>T_STSTSLESDSASLGVSDHGRGSGCS
1:175063134-175063134 A>T	0.0	4234	LUNG	-	-	-	-	TNN	NM_022093,p.S445C|uc010pmx.1,p.S445C|ENST00000239462,p.S445C|uc001gkl.1,p.S445C	protein_coding	uc010pmx.1	nonsynonymous SNV	exon6	c.A1333T	p.S445C	KPILLNGRTEIDSPTNVVTDRVTED	KPILLNGRTEIDCPTNVVTDRVTED	1.0	8.0	unscreened	-	4234_1:175063134-175063134 A>T_KPILLNGRTEIDCPTNVVTDRVTED
2:163230155-163230155 G>A	0.0	4234	LUNG	-	-	-	-	KCNH7	NM_033272,p.T1050I|ENST00000332142,p.T1050I|uc002uch.2,p.T1050I	protein_coding, processed_transcript	uc002uch.2	nonsynonymous SNV	exon15	c.C3149T	p.T1050I	LQEQLNRLESQMTTDIQTILQLLQK	LQEQLNRLESQMITDIQTILQLLQK	1.0	9.0	unscreened	-	4234_2:163230155-163230155 G>A_LQEQLNRLESQMITDIQTILQLLQK
11:4608586-4608586 G>C	0.0	4234	LUNG	-	-	-	-	OR52I2	ENST00000312614,p.A182P|uc010qyh.2,p.A182P|NM_001005170,p.A182P	protein_coding	uc010qyh.2	nonsynonymous SNV	exon1	c.G544C	p.A182P	VMLGMSMAITIRAIIAITPLSWMVS	VMLGMSMAITIRPIIAITPLSWMVS	1.0	9.0	unscreened	-	4234_11:4608586-4608586 G>C_VMLGMSMAITIRPIIAITPLSWMVS
19:43699281-43699281 C>A	0.0	4234	LUNG	-	-	-	-	PSG4	ENST00000596907,p.R163M|NM_001276495,p.R192M|ENST00000433626,p.R192M|ENST00000405312,p.R285M|NM_002780,p.R285M|uc002ovy.4,p.R285M|uc002owb.4,p.R192M	retained_intron, protein_coding, nonsense_mediated_decay	uc002owb.4	nonsynonymous SNV	exon3	c.G575T	p.R192M	WWLNGQSLPVSPRVKRPIENRILIL	WWLNGQSLPVSPMVKRPIENRILIL	1.0	10.0	unscreened	-	4234_19:43699281-43699281 C>A_WWLNGQSLPVSPMVKRPIENRILIL
11:19077796-19077796 G>C	0.0	4234	LUNG	-	-	-	-	MRGPRX2	NM_054030,p.L52V|uc001mph.3,p.L52V|ENST00000329773,p.L52V|uc021qer.1,p.L52V	protein_coding	uc021qer.1	nonsynonymous SNV	exon1	c.C154G	p.L52V	IALVGLVGNGFVLWLLGFRMRRNAF	IALVGLVGNGFVVWLLGFRMRRNAF	2.0	1.0	unscreened	-	4234_11:19077796-19077796 G>C_IALVGLVGNGFVVWLLGFRMRRNAF
13:109793670-109793670 G>T	0.0	4234	LUNG	-	-	-	-	MYO16	uc001vqt.1,p.G1682W|NM_015011,p.G1682W|ENST00000356711,p.G1682W|ENST00000357550,p.G1682W|NM_001198950,p.G1704W|uc010agk.2,p.G1704W	protein_coding, processed_transcript	uc010agk.2	nonsynonymous SNV	exon32	c.G5110T	p.G1704W	SPLDELASLFNSGRSVLRKSAAGRK	SPLDELASLFNSWRSVLRKSAAGRK	1.0	8.0	unscreened	-	4234_13:109793670-109793670 G>T_SPLDELASLFNSWRSVLRKSAAGRK
6:56044472-56044472 T>C	0.0	4234	LUNG	-	-	-	-	COL21A1	uc003pcs.3,p.I182V|ENST00000370819,p.I182V|NM_030820,p.I182V|ENST00000535941,p.I182V|uc011dxi.1,p.I182V|uc003pcu.1,p.I182V|ENST00000244728,p.I182V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxi.1	nonsynonymous SNV	exon4	c.A544G	p.I182V	VGSETEDAELRAIANKPSSTYVFYV	VGSETEDAELRAVANKPSSTYVFYV	5.0	10.0	unscreened	-	4234_6:56044472-56044472 T>C_VGSETEDAELRAVANKPSSTYVFYV
2:179201050-179201050 G>T	0.0	4234	LUNG	-	-	-	-	OSBPL6	ENST00000315022,p.W206L|NM_145739,p.W206L|uc010zfe.2,p.W227L|ENST00000359685,p.W227L|uc002ulw.3,p.W227L|uc002uly.3,p.W227L|NM_001201481,p.W227L|ENST00000409631,p.W227L|ENST00000409045,p.W227L|ENST00000392505,p.W227L|ENST00000357080,p.W227L|ENST00000190611,p.W227L|uc002ulx.3,p.W227L|NM_001201480,p.W227L|NM_032523,p.W227L|uc002ulz.3,p.W227L|uc002uma.3,p.W206L|NM_001201482,p.W227L	protein_coding, processed_transcript	uc010zfe.2	nonsynonymous SNV	exon9	c.G680T	p.W227L	VMDGKMQPNSFPWQSPLPCSNSLPA	VMDGKMQPNSFPLQSPLPCSNSLPA	4.0	6.0	unscreened	-	4234_2:179201050-179201050 G>T_VMDGKMQPNSFPLQSPLPCSNSLPA
2:79350281-79350281 G>C	1.0	4234	LUNG	-	-	-	-	REG1A	ENST00000233735,p.Q147H|uc010ysd.2,p.Q147H|uc002snz.3,p.Q147H|NM_002909,p.Q147H	retained_intron, protein_coding	uc010ysd.2	nonsynonymous SNV	exon5	c.G441C	p.Q147H	GYCVSLTSSTGFQKWKDVPCEDKFS	GYCVSLTSSTGFHKWKDVPCEDKFS	7.0	7.0	-	-	4234_2:79350281-79350281 G>C_GYCVSLTSSTGFHKWKDVPCEDKFS
8:73848795-73848795 G>T	0.0	4234	LUNG	-	-	-	-	KCNB2	uc003xzb.3,p.C402F|ENST00000523207,p.C402F|NM_004770,p.C402F	protein_coding	uc003xzb.3	nonsynonymous SNV	exon3	c.G1205T	p.C402F	KTLLGKIVGGLCCIAGVLVIALPIP	KTLLGKIVGGLCFIAGVLVIALPIP	1.0	4.0	unscreened	-	4234_8:73848795-73848795 G>T_KTLLGKIVGGLCFIAGVLVIALPIP
X:78619014-78619014 G>C	1.0	4234	LUNG	-	-	-	-	ITM2A	ENST00000373298,p.S50C|uc004edh.3,p.S50C|NM_004867,p.S50C	protein_coding, processed_transcript	uc004edh.3	nonsynonymous SNV	exon2	c.C149G	p.S50C	ELRVATQEKEGSSGRCMLTLLGLSF	ELRVATQEKEGSCGRCMLTLLGLSF	8.0	2.0	-	-	4234_X:78619014-78619014 G>C_ELRVATQEKEGSCGRCMLTLLGLSF
1:167083006-167083006 C>A	0.0	4234	LUNG	-	-	-	-	DUSP27	ENST00000361200,p.S57Y|ENST00000271385,p.S57Y|uc001geb.1,p.S57Y|NM_001080426,p.S57Y|ENST00000443333,p.S57Y	protein_coding, processed_transcript	uc001geb.1	nonsynonymous SNV	exon2	c.C170A	p.S57Y	ETESIFMEPIHLSSAIAAKQIINEE	ETESIFMEPIHLYSAIAAKQIINEE	2.0	2.0	unscreened	-	4234_1:167083006-167083006 C>A_ETESIFMEPIHLYSAIAAKQIINEE
10:26482154-26482154 C>G	1.0	4234	LUNG	-	-	-	-	MYO3A	ENST00000265944,p.P1487A|NM_017433,p.P1487A|uc001isn.2,p.P1487A	protein_coding, processed_transcript	uc001isn.2	nonsynonymous SNV	exon32	c.C4459G	p.P1487A	QQCLSGVCKGEEPKILRPPRRPRKP	QQCLSGVCKGEEAKILRPPRRPRKP	6.0	1.0	-	-	4234_10:26482154-26482154 C>G_QQCLSGVCKGEEAKILRPPRRPRKP
X:153608701-153608701 C>A	0.0	4234	LUNG	-	-	-	-	EMD	ENST00000369842,p.P125T|uc004fkl.3,p.P125T|NM_000117,p.P125T|ENST00000369835,p.P90T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004fkl.3	nonsynonymous SNV	exon4	c.C373A	p.P125T	PSRAVRQSVTSFPDADAFHHQVHDD	PSRAVRQSVTSFTDADAFHHQVHDD	9.0	3.0	-	-	4234_X:153608701-153608701 C>A_PSRAVRQSVTSFTDADAFHHQVHDD
15:74483232-74483232 G>T	0.0	4234	LUNG	-	-	-	-	STRA6	ENST00000569936,p.P336T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000569936	nonsynonymous SNV	exon10	c.C1006A	p.P336T	HTPSFEDYRIPSPAEAGAFSYTDRD	HTPSFEDYRIPSTAEAGAFSYTDRD	5.0	7.0	unscreened	-	4234_15:74483232-74483232 G>T_HTPSFEDYRIPSTAEAGAFSYTDRD
12:4919293-4919293 C>G	0.0	4234	LUNG	-	-	-	-	KCNA6	ENST00000280684,p.P29R|NM_002235,p.P29R|uc001qng.3,p.P29R|ENST00000433855,p.P29R|uc021qtr.1,p.P29R	protein_coding	uc021qtr.1	nonsynonymous SNV	exon1	c.C86G	p.P29R	GPEGEQQDAGDFPEAGGGGGCCSSE	GPEGEQQDAGDFREAGGGGGCCSSE	1.0	10.0	unscreened	-	4234_12:4919293-4919293 C>G_GPEGEQQDAGDFREAGGGGGCCSSE
4:68934448-68934448 C>G	0.0	4234	LUNG	-	-	-	-	TMPRSS11F	uc003hdt.1,p.E215Q|NM_207407,p.E215Q|ENST00000356291,p.E215Q	protein_coding	uc003hdt.1	nonsynonymous SNV	exon7	c.G643C	p.E215Q	TQRIVQGRETAMEGEWPWQASLQLI	TQRIVQGRETAMQGEWPWQASLQLI	1.0	3.0	unscreened	-	4234_4:68934448-68934448 C>G_TQRIVQGRETAMQGEWPWQASLQLI
4:4301682-4301682 G>T	0.0	4234	LUNG	-	-	-	-	ZBTB49	ENST00000503703,p.V4F|ENST00000515012,p.V4F|ENST00000502918,p.V4F|ENST00000355834,p.V4F|ENST00000337872,p.V4F|NM_145291,p.V4F|uc003ghu.3,p.V4F	protein_coding, nonsense_mediated_decay	uc003ghu.3	nonsynonymous SNV	exon2	c.G10T	p.V4F	MDPVATHSCHLLQQLH	MDPFATHSCHLLQQLH	6.0	5.0	unscreened	-	4234_4:4301682-4301682 G>T_MDPFATHSCHLLQQLH
12:100813824-100813824 C>A	0.0	4234	LUNG	-	-	-	-	SLC17A8	NM_139319,p.Q553K|ENST00000392989,p.Q503K|ENST00000323346,p.Q553K|uc010svi.2,p.Q553K|uc009ztx.3,p.Q503K|NM_001145288,p.Q503K	retained_intron, protein_coding, processed_transcript	uc010svi.2	nonsynonymous SNV	exon12	c.C1657A	p.Q553K	SPKKKMSYGATSQNCEVQKKEWKGQ	SPKKKMSYGATSKNCEVQKKEWKGQ	1.0	10.0	unscreened	-	4234_12:100813824-100813824 C>A_SPKKKMSYGATSKNCEVQKKEWKGQ
X:49142743-49142743 G>T	0.0	4234	LUNG	-	-	-	-	PPP1R3F	ENST00000466508,p.D185Y|NM_033215,p.D531Y|uc004dnh.2,p.D531Y|ENST00000495799,p.D185Y|NM_001184745,p.D185Y|uc004dni.3,p.D185Y|ENST00000376188,p.D185Y|uc011mnd.2,p.D202Y|uc004dnj.2,p.D185Y|ENST00000438316,p.D202Y|ENST00000055335,p.D531Y	protein_coding	uc011mnd.2	nonsynonymous SNV	exon5	c.G604T	p.D202Y	GMSPSHPLGILTDRDLILKWPGPER	GMSPSHPLGILTYRDLILKWPGPER	4.0	4.0	unscreened	-	4234_X:49142743-49142743 G>T_GMSPSHPLGILTYRDLILKWPGPER
4:100571046-100571046 G>T	0.0	4234	LUNG	-	-	-	-	MTTP,DAPP1	ENST00000511828,p.P1587Q	protein_coding	ENST00000511828	nonsynonymous SNV	exon1	c.C4760A	p.P1587Q	QVLCFSPPSMPAPAPAASAPVPTDP	QVLCFSPPSMPAQAPAASAPVPTDP	2.0	8.0	unscreened	-	4234_4:100571046-100571046 G>T_QVLCFSPPSMPAQAPAASAPVPTDP
X:135861631-135861631 G>A	0.0	4234	LUNG	-	-	-	-	ARHGEF6	NM_004840,p.A64V|ENST00000250617,p.A64V|uc004fab.3,p.A64V	protein_coding	uc004fab.3	nonsynonymous SNV	exon2	c.C191T	p.A64V	SVEKFCLDPQTEADCINNINDFLKG	SVEKFCLDPQTEVDCINNINDFLKG	7.0	3.0	unscreened	-	4234_X:135861631-135861631 G>A_SVEKFCLDPQTEVDCINNINDFLKG
17:61987536-61987536 G>C	0.0	4234	LUNG	-	-	-	-	CSHL1	NM_022580,p.Q70E|uc002jdb.1,p.Q59E|ENST00000259003,p.Q91E|uc002jcz.1,p.Q130E|uc002jda.1,p.Q153E|NM_001318,p.Q59E|ENST00000309894,p.Q153E|ENST00000438387,p.Q70E|uc002jdc.1,p.Q70E|NM_022581,p.Q130E|ENST00000346606,p.Q59E|uc002jdd.1,p.Q91E|NM_022579,p.Q153E	retained_intron, protein_coding, ambiguous_orf	uc002jdd.1	nonsynonymous SNV	exon4	c.C271G	p.Q91E	DYHLLKDLEEGIQMLMGRLEDGSHL	DYHLLKDLEEGIEMLMGRLEDGSHL	1.0	8.0	unscreened	-	4234_17:61987536-61987536 G>C_DYHLLKDLEEGIEMLMGRLEDGSHL
X:141290818-141290818 G>T	0.0	4234	LUNG	-	-	-	-	MAGEC2	uc022cfj.1,p.A319D|ENST00000247452,p.A319D|uc004fbu.2,p.A319D|NM_016249,p.A319D	protein_coding	uc022cfj.1	nonsynonymous SNV	exon1	c.C956A	p.A319D	SESIKKKVLEFLAKLNNTVPSSFPS	SESIKKKVLEFLDKLNNTVPSSFPS	3.0	3.0	unscreened	-	4234_X:141290818-141290818 G>T_SESIKKKVLEFLDKLNNTVPSSFPS
X:103041652-103041652 C>-	0.0	4234	LUNG	-	-	-	-	PLP1	uc010nov.3,p.D150fs|ENST00000418604,p.D150fs|uc010nox.3,p.D104fs|uc004elk.3,p.D150fs|uc011msf.2,p.D95fs|ENST00000303958,p.D150fs|NM_000533,p.D150fs|NM_001128834,p.D150fs	retained_intron, protein_coding, processed_transcript	uc011msf.2	frameshift deletion	exon3	c.285delC	p.D95fs	VCHCLGKWLGHPDKFVGITYALTVVW	VCHCLGKWLGHPESLWASPMP	2.0	4.0	unscreened	-	4234_X:103041652-103041652 C>-_VCHCLGKWLGHPESLWASPMP
10:1262914-1262914 C>A	0.0	4234	LUNG	-	-	-	-	ADARB2	uc009xhq.3,p.M553I|NM_018702,p.M553I|ENST00000381312,p.M553I	protein_coding, processed_transcript	uc009xhq.3	nonsynonymous SNV	exon7	c.G1659T	p.M553I	WDGVLLGEQLITMSCTDKIARWNVL	WDGVLLGEQLITISCTDKIARWNVL	1.0	4.0	unscreened	-	4234_10:1262914-1262914 C>A_WDGVLLGEQLITISCTDKIARWNVL
17:79409558-79409558 G>T	0.0	4234	LUNG	-	-	-	-	BAHCC1	ENST00000307745,p.V395L	retained_intron, protein_coding, processed_transcript	ENST00000307745	nonsynonymous SNV	exon9	c.G1183T	p.V395L	APRDLKASGPTFVPSVGHLADKGRP	APRDLKASGPTFLPSVGHLADKGRP	4.0	7.0	unscreened	-	4234_17:79409558-79409558 G>T_APRDLKASGPTFLPSVGHLADKGRP
11:128868282-128868282 C>A	0.0	4234	LUNG	-	-	-	-	ARHGAP32	uc001qez.3,p.R13L|uc009zcq.2,p.R322L|uc009zcp.3,p.R362L|ENST00000392657,p.R13L|uc001qfb.3,p.R147L|ENST00000524655,p.R288L|ENST00000310343,p.R362L|NM_014715,p.R13L|ENST00000527272,p.R13L|NM_001142685,p.R362L	retained_intron, protein_coding	uc009zcq.2	nonsynonymous SNV	exon10	c.G965T	p.R322L	MKSRPTKQKLKQRGILKERVFGCDL	MKSRPTKQKLKQLGILKERVFGCDL	6.0	1.0	unscreened	-	4234_11:128868282-128868282 C>A_MKSRPTKQKLKQLGILKERVFGCDL
12:80730196-80730196 G>C	0.0	4234	LUNG	-	-	-	-	OTOGL	ENST00000547103,p.R1514P|uc001szd.3,p.R1526P|NM_173591,p.R1526P|ENST00000458043,p.R1526P	protein_coding, nonsense_mediated_decay	uc001szd.3	nonsynonymous SNV	exon39	c.G4577C	p.R1526P	SDICCPEWECPCRCSMLSELSIITF	SDICCPEWECPCPCSMLSELSIITF	1.0	10.0	unscreened	-	4234_12:80730196-80730196 G>C_SDICCPEWECPCPCSMLSELSIITF
2:116497464-116497464 C>G	0.0	4234	LUNG	-	-	-	-	DPP10	uc002tlf.2,p.P276A|NM_001178037,p.P279A|NM_001004360,p.P276A|ENST00000310323,p.P276A|uc002tlc.2,p.P279A|uc002tle.3,p.P287A|NM_001178034,p.P287A|NM_020868,p.P283A|ENST00000410059,p.P283A|uc002tlb.2,p.P233A|ENST00000409163,p.P233A|NM_001178036,p.P233A|uc002tla.2,p.P283A|ENST00000393147,p.P287A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tlf.2	nonsynonymous SNV	exon9	c.C826G	p.P276A	GALYPKGKQYPYPKAGQVNPTIKLY	GALYPKGKQYPYAKAGQVNPTIKLY	5.0	7.0	unscreened	-	4234_2:116497464-116497464 C>G_GALYPKGKQYPYAKAGQVNPTIKLY
7:39125584-39125584 C>A	1.0	4234	LUNG	-	-	-	-	POU6F2	uc022acb.1,p.A48E|ENST00000524147,p.A40E|ENST00000464276,p.A40E|ENST00000559001,p.A40E|ENST00000403058,p.A48E|ENST00000520104,p.A40E|uc010kxo.3,p.A40E|ENST00000451021,p.A49E|uc003thb.2,p.A48E|ENST00000518318,p.A48E|NM_007252,p.A48E|NM_001166018,p.A48E	protein_coding, processed_transcript, nonsense_mediated_decay	uc022acb.1	nonsynonymous SNV	exon3	c.C143A	p.A48E	ATSDSELNEPLLAPVESNDSEDTPS	ATSDSELNEPLLEPVESNDSEDTPS	5.0	7.0	-	-	4234_7:39125584-39125584 C>A_ATSDSELNEPLLEPVESNDSEDTPS
1:76282087-76282087 T>C	0.0	4234	LUNG	-	-	-	-	MSH4	NM_002440,p.L282S|uc001dhd.2,p.L282S|ENST00000263187,p.L282S	protein_coding	uc001dhd.2	nonsynonymous SNV	exon6	c.T845C	p.L282S	QSKYYCLAAVAALLKYVEFIQNSVY	QSKYYCLAAVAASLKYVEFIQNSVY	3.0	5.0	unscreened	-	4234_1:76282087-76282087 T>C_QSKYYCLAAVAASLKYVEFIQNSVY
3:64536621-64536621 T>C	0.0	4234	LUNG	-	-	-	-	ADAMTS9	uc003dmh.1,p.S1435G|uc011bfp.1,p.S517G|ENST00000498707,p.S1606G|NM_182920,p.S1606G|ENST00000295903,p.S1578G|uc003dmg.3,p.S1606G|uc011bfo.2,p.S1578G	retained_intron, protein_coding, processed_transcript	uc011bfp.1	nonsynonymous SNV	exon12	c.A1549G	p.S517G	RCDVSKRPVDRESCSLQPCEYVWIT	RCDVSKRPVDREGCSLQPCEYVWIT	7.0	10.0	unscreened	-	4234_3:64536621-64536621 T>C_RCDVSKRPVDREGCSLQPCEYVWIT
1:92445277-92445277 A>T	0.0	4234	LUNG	-	-	-	-	BRDT	uc010otb.2,p.D371V|NM_001242808,p.D371V|ENST00000394530,p.D371V|ENST00000370389,p.D344V|uc010osz.2,p.D421V|NM_001242807,p.D371V|ENST00000426141,p.D417V|NM_001242806,p.D421V|uc001dom.4,p.D417V|ENST00000362005,p.D417V|uc009wdf.3,p.D344V|uc010ota.2,p.D371V|NM_207189,p.D417V|NM_001726,p.D417V|uc001dok.4,p.D417V|ENST00000399546,p.D417V|NM_001242810,p.D344V|ENST00000402388,p.D417V|NM_001242805,p.D417V|uc001dol.4,p.D417V	protein_coding, processed_transcript	uc010otb.2	nonsynonymous SNV	exon7	c.A1112T	p.D371V	ASSEGNSSDDSEDERVKRLAKLQEQ	ASSEGNSSDDSEVERVKRLAKLQEQ	3.0	10.0	unscreened	-	4234_1:92445277-92445277 A>T_ASSEGNSSDDSEVERVKRLAKLQEQ
3:5246805-5246805 G>T	0.0	4234	LUNG	-	-	-	-	EDEM1	NM_014674,p.G366C|uc021wsl.1,p.G171C|ENST00000256497,p.G366C|uc003bqi.3,p.G366C|ENST00000445686,p.G171C|uc011asz.1,p.G144C	retained_intron, protein_coding, nonsense_mediated_decay	uc021wsl.1	nonsynonymous SNV	exon6	c.G511T	p.G171C	QTGHWVGKQSGLGAGLDSFYEYLLK	QTGHWVGKQSGLCAGLDSFYEYLLK	7.0	5.0	unscreened	-	4234_3:5246805-5246805 G>T_QTGHWVGKQSGLCAGLDSFYEYLLK
8:61777720-61777720 T>G	1.0	4234	LUNG	-	-	-	-	CHD7	NM_017780,p.I2741S|uc022aux.1,p.I692S|ENST00000423902,p.I2741S|ENST00000524602,p.I692S|uc003xue.3,p.I2741S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022aux.1	nonsynonymous SNV	exon5	c.T2075G	p.I692S	AAAAAAVASTSGINPLLVNSLFAGM	AAAAAAVASTSGSNPLLVNSLFAGM	9.0	7.0	-	-	4234_8:61777720-61777720 T>G_AAAAAAVASTSGSNPLLVNSLFAGM
8:113662419-113662419 C>A	0.0	4234	LUNG	-	-	-	2	CSMD3	NM_198124,p.W1015L|ENST00000339701,p.W395L|ENST00000343508,p.W1015L|NM_052900,p.W951L|ENST00000455883,p.W951L|uc011lhx.2,p.W951L|ENST00000297405,p.W1055L|uc003ynt.3,p.W1015L|NM_198123,p.W1055L|ENST00000352409,p.W1055L|uc003yns.3,p.W327L|uc003ynu.3,p.W1055L	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon18	c.G2852T	p.W951L	SHEEPLLCEKNHWWSHPLPTCDALC	SHEEPLLCEKNHLWSHPLPTCDALC	2.0	5.0	unscreened	-	4234_8:113662419-113662419 C>A_SHEEPLLCEKNHLWSHPLPTCDALC
11:55703374-55703374 A>T	0.0	4234	LUNG	-	-	-	-	OR5I1	uc010ris.2,p.L168Q|NM_006637,p.L168Q|ENST00000301532,p.L168Q	protein_coding	uc010ris.2	nonsynonymous SNV	exon1	c.T503A	p.L168Q	MSSLVHTSFAFILKYCDKNVINHFF	MSSLVHTSFAFIQKYCDKNVINHFF	1.0	9.0	unscreened	-	4234_11:55703374-55703374 A>T_MSSLVHTSFAFIQKYCDKNVINHFF
X:70389339-70389339 G>C	0.0	4234	LUNG	-	-	ID=COSM4136361,COSM4136362;OCCURENCE=1(ovary)	-	NLGN3	uc004dze.3,p.V445L|NM_018977,p.V627L|ENST00000374051,p.V627L|ENST00000358741,p.V647L|uc004dzb.3,p.V627L|NM_001166660,p.V607L|uc011mps.2,p.V607L|ENST00000536169,p.V607L|uc004dzc.3,p.V510L|NM_181303,p.V647L|uc004dzd.2,p.V647L	protein_coding, processed_transcript	uc011mps.2	nonsynonymous SNV	exon6	c.G1819C	p.V607L	HDMFHYTSTTTKVPPPDTTHSSHIT	HDMFHYTSTTTKLPPPDTTHSSHIT	5.0	5.0	-	-	4234_X:70389339-70389339 G>C_HDMFHYTSTTTKLPPPDTTHSSHIT
17:39464512-39464512 T>C	0.0	4234	LUNG	-	-	-	-	KRTAP16-1	uc021txi.1,p.T332A|NM_001146182,p.T332A|ENST00000391352,p.T332A	protein_coding	uc021txi.1	nonsynonymous SNV	exon1	c.A994G	p.T332A	SPAVCVSSPCQPTCYVVKRCPSVCP	SPAVCVSSPCQPACYVVKRCPSVCP	1.0	9.0	unscreened	-	4234_17:39464512-39464512 T>C_SPAVCVSSPCQPACYVVKRCPSVCP
12:101685575-101685575 C>G	0.0	4234	LUNG	-	-	-	-	UTP20	NM_014503,p.S316C|ENST00000261637,p.S316C|uc001tia.1,p.S316C	retained_intron, protein_coding	uc001tia.1	nonsynonymous SNV	exon9	c.C947G	p.S316C	HTKVTKTNCCESSEQIKRLLETYLI	HTKVTKTNCCESCEQIKRLLETYLI	7.0	9.0	unscreened	-	4234_12:101685575-101685575 C>G_HTKVTKTNCCESCEQIKRLLETYLI
1:237947131-237947131 A>G	0.0	4234	LUNG	-	-	-	-	RYR2	NM_001035,p.K4040R|ENST00000366574,p.K4040R|uc010pya.2,p.K455R|ENST00000360064,p.K4046R|uc001hyl.1,p.K4040R|ENST00000542537,p.K4024R	protein_coding, processed_transcript	uc010pya.2	nonsynonymous SNV	exon16	c.A1364G	p.K455R	SSDTFKEYDPDGKGVISKRDFHKAM	SSDTFKEYDPDGRGVISKRDFHKAM	4.0	9.0	unscreened	-	4234_1:237947131-237947131 A>G_SSDTFKEYDPDGRGVISKRDFHKAM
2:141108445-141108445 C>A	0.0	4234	LUNG	-	-	-	1	LRP1B	NM_018557,p.S3938I|ENST00000389484,p.S3938I|uc002tvj.1,p.S3938I	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon77	c.G11813T	p.S3938I	MDVYYQRDMIIWSTQFNPGGIFYKR	MDVYYQRDMIIWITQFNPGGIFYKR	1.0	6.0	unscreened	-	4234_2:141108445-141108445 C>A_MDVYYQRDMIIWITQFNPGGIFYKR
5:95011142-95011142 G>T	0.0	4234	LUNG	-	-	-	-	SPATA9	NM_031952,p.P118T|ENST00000316087,p.P118T|uc003klj.1,p.P118T|ENST00000274432,p.P118T	protein_coding, processed_transcript, nonsense_mediated_decay	uc003klj.1	nonsynonymous SNV	exon3	c.C352A	p.P118T	DISGRLLREVNAPRQPLYNIQVRKG	DISGRLLREVNATRQPLYNIQVRKG	5.0	7.0	unscreened	-	4234_5:95011142-95011142 G>T_DISGRLLREVNATRQPLYNIQVRKG
X:136113743-136113743 C>A	0.0	4234	LUNG	-	-	-	-	GPR101	uc011mwh.2,p.G31C|NM_054021,p.G31C|ENST00000298110,p.G31C	protein_coding	uc011mwh.2	nonsynonymous SNV	exon1	c.G91T	p.G31C	MPLSKMPISLAHGIIRSTVLVIFLA	MPLSKMPISLAHCIIRSTVLVIFLA	1.0	2.0	unscreened	-	4234_X:136113743-136113743 C>A_MPLSKMPISLAHCIIRSTVLVIFLA
6:36296422-36296422 G>A	0.0	4234	LUNG	-	-	-	-	C6orf222	ENST00000437635,p.P227L|NM_001010903,p.P227L|uc003oly.3,p.P227L	protein_coding	uc003oly.3	nonsynonymous SNV	exon3	c.C680T	p.P227L	IKVDGTGALDVSPHATGHQQEEELK	IKVDGTGALDVSLHATGHQQEEELK	1.0	10.0	unscreened	-	4234_6:36296422-36296422 G>A_IKVDGTGALDVSLHATGHQQEEELK
14:68228059-68228059 T>G	0.0	4234	LUNG	-	-	-	-	ZFYVE26	ENST00000555452,p.K2204N|uc001xkc.4,p.K2204N	retained_intron, protein_coding, nonsense_mediated_decay	uc001xkc.4	nonsynonymous SNV	exon35	c.A6612C	p.K2204N	HLLNKVGHGHSSKRQCLPYSSGLDH	HLLNKVGHGHSSNRQCLPYSSGLDH	7.0	9.0	unscreened	-	4234_14:68228059-68228059 T>G_HLLNKVGHGHSSNRQCLPYSSGLDH
1:182025877-182025877 G>-	0.0	4234	LUNG	-	-	-	-	ZNF648	ENST00000339948,p.P423fs|NM_001009992,p.P423fs|uc021pfu.1,p.P423fs|uc001goz.3,p.P423fs	protein_coding	uc021pfu.1	frameshift deletion	exon1	c.1269delC	p.P423fs	QRVHSGERPFPCPTCGKCFTKSSNLS	QRVHSGERPFPCPPAASASPSPPICPSTRRCTPARGLSSALTAAWPSRSPRASCATSASTLARGPFLARSVARPLPALRP	1.0	1.0	unscreened	-	4234_1:182025877-182025877 G>-_QRVHSGERPFPCPPAASASPSPPICPSTRRCTPARGLSSALTAAWPSRSPRASCATSASTLARGPFLARSVARPLPALRP
11:45672355-45672355 G>A	0.0	4234	LUNG	-	-	-	-	CHST1	uc001mys.2,p.A40V|NM_003654,p.A40V|uc021qgn.1,p.A40V|ENST00000308064,p.A40V	retained_intron, protein_coding, processed_transcript	uc021qgn.1	nonsynonymous SNV	exon1	c.C119T	p.A40V	AKSFHTCPGLAEAGLAERLCEESPT	AKSFHTCPGLAEVGLAERLCEESPT	5.0	6.0	unscreened	-	4234_11:45672355-45672355 G>A_AKSFHTCPGLAEVGLAERLCEESPT
17:3343471-3343471 C>A	0.0	4234	LUNG	-	-	-	-	SPATA22	ENST00000397168,p.Q354H|uc010ckf.3,p.Q311H|uc002fvp.3,p.Q354H|uc002fvm.3,p.Q354H|uc010vrg.2,p.Q338H|NM_001170698,p.Q354H|ENST00000573128,p.Q354H|uc002fvo.3,p.Q354H|ENST00000575375,p.Q354H|NM_001170697,p.Q354H|NM_001170695,p.Q354H|ENST00000541913,p.Q338H|NM_001170696,p.Q311H|NM_032598,p.Q354H|uc002fvn.3,p.Q354H|ENST00000572969,p.Q354H|ENST00000355380,p.Q311H	protein_coding	uc010vrg.2	nonsynonymous SNV	exon9	c.G1014T	p.Q338H	FQAFVKIADVEMQYYINVMNET	FQAFVKIADVEMHYYINVMNET	1.0	4.0	unscreened	-	4234_17:3343471-3343471 C>A_FQAFVKIADVEMHYYINVMNET
3:44284833-44284833 C>A	0.0	4234	LUNG	-	-	-	-	TOPAZ1	uc003cna.4,p.Q279K|ENST00000309765,p.Q279K|NM_001145030,p.Q279K	protein_coding	uc003cna.4	nonsynonymous SNV	exon2	c.C835A	p.Q279K	SLAEKSDTNSIPQLLQTEENVMGVN	SLAEKSDTNSIPKLLQTEENVMGVN	1.0	6.0	unscreened	-	4234_3:44284833-44284833 C>A_SLAEKSDTNSIPKLLQTEENVMGVN
5:71015161-71015161 C>A	0.0	4234	LUNG	-	-	-	-	CARTPT	ENST00000296777,p.A14D|NM_004291,p.A14D|uc003kbv.2,p.A14D	protein_coding, processed_transcript	uc003kbv.2	nonsynonymous SNV	exon1	c.C41A	p.A14D	ESSRVRLLPLLGAALLLMLPLLGTR	ESSRVRLLPLLGDALLLMLPLLGTR	1.0	4.0	unscreened	-	4234_5:71015161-71015161 C>A_ESSRVRLLPLLGDALLLMLPLLGTR
7:19156792-19156792 C>-	0.0	4234	LUNG	-	-	-	-	TWIST1	NM_000474,p.G51fs|uc003sum.3,p.G51fs|ENST00000242261,p.G51fs|uc022aah.1,p.G51fs	protein_coding, nonsense_mediated_decay	uc022aah.1	frameshift deletion	exon1	c.153delG	p.G51fs	RRSSRRSAGGGAGPGGAAGGGVGGGD	RRSSRRSAGGGAGPAEPRVGASEAATSRAARPRASAARSLRAVAAAAARAAAAAAAAAAGVRSLTRSCRRSGSWPTCGSASAPSR	4.0	3.0	unscreened	-	4234_7:19156792-19156792 C>-_RRSSRRSAGGGAGPAEPRVGASEAATSRAARPRASAARSLRAVAAAAARAAAAAAAAAAGVRSLTRSCRRSGSWPTCGSASAPSR
4:46737030-46737030 C>A	0.0	4234	LUNG	-	-	-	-	COX7B2	ENST00000396533,p.Q60H|ENST00000302930,p.Q60H|uc003gxf.3,p.Q60H|ENST00000543208,p.Q59H|ENST00000355591,p.Q60H|uc021xny.1,p.Q60H|NM_130902,p.Q60H	protein_coding	uc021xny.1	nonsynonymous SNV	exon1	c.G180T	p.Q60H	AFCVATWVFTATQIGIEWNLSPVGR	AFCVATWVFTATHIGIEWNLSPVGR	1.0	5.0	unscreened	-	4234_4:46737030-46737030 C>A_AFCVATWVFTATHIGIEWNLSPVGR
13:53624827-53624827 C>A	0.0	4234	LUNG	-	-	-	-	OLFM4	ENST00000219022,p.P485H|uc001vhl.3,p.P485H|NM_006418,p.P485H	protein_coding, processed_transcript	uc001vhl.3	nonsynonymous SNV	exon5	c.C1454A	p.P485H	KMQEKVQSINYNPFDQKLYVYNDGY	KMQEKVQSINYNHFDQKLYVYNDGY	2.0	9.0	unscreened	-	4234_13:53624827-53624827 C>A_KMQEKVQSINYNHFDQKLYVYNDGY
7:100550371-100550371 G>A	0.0	4234	LUNG	-	-	-	-	MUC3A	NM_005960,p.V318M|ENST00000379458,p.V318M	protein_coding	NM_005960	nonsynonymous SNV	exon2	c.G952A	p.V318M	SGITNTTPLSTLVTTLPTTISRSTP	SGITNTTPLSTLMTTLPTTISRSTP	1.0	4.0	unscreened	-	4234_7:100550371-100550371 G>A_SGITNTTPLSTLMTTLPTTISRSTP
21:33371181-33371181 C>G	0.0	4234	LUNG	-	-	-	-	HUNK	uc002yph.3,p.P610R|ENST00000270112,p.P610R|NM_014586,p.P610R	protein_coding, processed_transcript	uc002yph.3	nonsynonymous SNV	exon11	c.C1829G	p.P610R	TLSPGLPSGSMSPLHTPLHPTLVSF	TLSPGLPSGSMSRLHTPLHPTLVSF	4.0	6.0	unscreened	-	4234_21:33371181-33371181 C>G_TLSPGLPSGSMSRLHTPLHPTLVSF
6:117589409-117589409 G>T	0.0	4234	LUNG	-	-	-	-	VGLL2	uc003pxn.3,p.G49V|NM_153453,p.G49V|uc003pxo.3,p.G49V|ENST00000326274,p.G49V|NM_182645,p.G49V|ENST00000352536,p.G49V	protein_coding	uc003pxo.3	nonsynonymous SNV	exon2	c.G146T	p.G49V	EAQECNASPSSSGSGSSSFSSQTPA	EAQECNASPSSSVSGSSSFSSQTPA	3.0	10.0	unscreened	-	4234_6:117589409-117589409 G>T_EAQECNASPSSSVSGSSSFSSQTPA
1:87043723-87043723 G>A	0.0	4234	LUNG	-	-	-	-	CLCA4	ENST00000370563,p.R697K|uc009wct.3,p.R460K|uc009wcu.3,p.R517K|NM_012128,p.R697K|uc009wcs.3,p.R697K	protein_coding, processed_transcript	uc009wcu.3	nonsynonymous SNV	exon10	c.G1550A	p.R517K	NTARLKLRPPLNRAAYIPGWVVNGE	NTARLKLRPPLNKAAYIPGWVVNGE	1.0	9.0	unscreened	-	4234_1:87043723-87043723 G>A_NTARLKLRPPLNKAAYIPGWVVNGE
8:61765414-61765414 G>C	0.0	4234	LUNG	-	-	-	-	CHD7	ENST00000423902,p.E2044Q|NM_017780,p.E2044Q|uc003xue.3,p.E2044Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xue.3	nonsynonymous SNV	exon31	c.G6130C	p.E2044Q	PDDEPPDLSSIIEPITEERASRTLY	PDDEPPDLSSIIQPITEERASRTLY	9.0	3.0	-	-	4234_8:61765414-61765414 G>C_PDDEPPDLSSIIQPITEERASRTLY
X:150155674-150155674 G>C	0.0	4234	LUNG	-	-	-	-	HMGB3	ENST00000455596,p.D122H|ENST00000430118,p.D122H|uc004fep.3,p.D122H|ENST00000448905,p.D122H|ENST00000419110,p.D122H|ENST00000325307,p.D122H|NM_001301231,p.D142H|uc004fer.3,p.D122H|NM_001301229,p.D122H|NM_005342,p.D122H|NM_001301228,p.D122H	protein_coding	uc004fer.3	nonsynonymous SNV	exon4	c.G364C	p.D122H	KIKSTNPGISIGDVAKKLGEMWNNL	KIKSTNPGISIGHVAKKLGEMWNNL	9.0	3.0	-	-	4234_X:150155674-150155674 G>C_KIKSTNPGISIGHVAKKLGEMWNNL
3:9097995-9097995 C>A	0.0	4234	LUNG	-	-	-	2	SRGAP3	uc003brj.1,p.Q209H|ENST00000360413,p.Q349H|ENST00000383836,p.Q349H|uc003brf.2,p.Q349H|NM_014850,p.Q349H|uc003brg.2,p.Q349H|NM_001033117,p.Q349H	retained_intron, protein_coding, processed_transcript	uc003brj.1	nonsynonymous SNV	exon6	c.G627T	p.Q209H	HMGDEVCQVSAQQPVQTELLMRYHQ	HMGDEVCQVSAQHPVQTELLMRYHQ	5.0	4.0	unscreened	-	4234_3:9097995-9097995 C>A_HMGDEVCQVSAQHPVQTELLMRYHQ
7:150554710-150554710 G>C	0.0	4234	LUNG	-	-	-	-	AOC1	uc003wia.2,p.E384D|ENST00000416793,p.E384D|ENST00000467291,p.E384D|NM_001272072,p.E384D|uc003why.1,p.E384D|ENST00000493429,p.E384D|ENST00000360937,p.E384D|NM_001091,p.E384D|uc003whz.2,p.E384D	protein_coding, processed_transcript	uc003wia.2	nonsynonymous SNV	exon2	c.G1152C	p.E384D	LDVGWGLGSVTHELAPGIDCPETAT	LDVGWGLGSVTHDLAPGIDCPETAT	5.0	6.0	unscreened	-	4234_7:150554710-150554710 G>C_LDVGWGLGSVTHDLAPGIDCPETAT
14:90650637-90650637 C>A	0.0	4234	LUNG	-	-	-	-	KCNK13	ENST00000282146,p.Q173K|NM_022054,p.Q173K|uc001xye.1,p.Q173K	protein_coding	uc001xye.1	nonsynonymous SNV	exon2	c.C517A	p.Q173K	HQRQLRRRGALPQESLKDAGQCEVD	HQRQLRRRGALPKESLKDAGQCEVD	4.0	5.0	unscreened	-	4234_14:90650637-90650637 C>A_HQRQLRRRGALPKESLKDAGQCEVD
1:216040411-216040411 C>G	0.0	4234	LUNG	-	-	-	-	USH2A	ENST00000366943,p.G2928A|uc001hku.1,p.G2928A|ENST00000307340,p.G2928A|NM_206933,p.G2928A	retained_intron, protein_coding	uc001hku.1	nonsynonymous SNV	exon44	c.G8783C	p.G2928A	VTVTTLAGLPERGANLTASVLNHTA	VTVTTLAGLPERAANLTASVLNHTA	3.0	4.0	unscreened	-	4234_1:216040411-216040411 C>G_VTVTTLAGLPERAANLTASVLNHTA
11:7078977-7078977 C>A	0.0	4234	LUNG	-	-	-	-	NLRP14	uc001mfb.1,p.S787R|NM_176822,p.S787R|ENST00000299481,p.S787R	protein_coding	uc001mfb.1	nonsynonymous SNV	exon7	c.C2361A	p.S787R	CLNISNALIRSQSLIFLNLSTNNLL	CLNISNALIRSQRLIFLNLSTNNLL	1.0	5.0	unscreened	-	4234_11:7078977-7078977 C>A_CLNISNALIRSQRLIFLNLSTNNLL
15:48548071-48548071 A>G	0.0	4234	LUNG	-	-	-	-	SLC12A1	ENST00000558405,p.E669G|uc001zwn.4,p.E669G|uc010bem.3,p.E669G|uc001zwr.4,p.E396G|ENST00000396577,p.E669G|NM_000338,p.E669G|uc001zwq.4,p.E440G|uc010uew.1,p.E475G|ENST00000380993,p.E669G|NM_001184832,p.E669G|ENST00000559641,p.E482G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uew.1	nonsynonymous SNV	exon15	c.A1424G	p.E475G	ALSYVSALDNALELTTVEDHVKNFR	ALSYVSALDNALGLTTVEDHVKNFR	1.0	1.0	unscreened	-	4234_15:48548071-48548071 A>G_ALSYVSALDNALGLTTVEDHVKNFR
17:56274429-56274429 G>A	0.0	4234	LUNG	-	-	-	-	EPX	NM_000502,p.A311T|ENST00000225371,p.A311T|uc002ivq.3,p.A311T	protein_coding	uc002ivq.3	nonsynonymous SNV	exon7	c.G931A	p.A311T	RNQINALTSFVDASMVYGSEVSLSL	RNQINALTSFVDTSMVYGSEVSLSL	1.0	6.0	unscreened	-	4234_17:56274429-56274429 G>A_RNQINALTSFVDTSMVYGSEVSLSL
10:101590067-101590067 A>G	0.0	4234	LUNG	-	-	ID=COSM199838;OCCURENCE=1(large_intestine)	-	ABCC2	ENST00000370449,p.H875R|NM_000392,p.H875R|uc001kqf.2,p.H875R	protein_coding, processed_transcript	uc001kqf.2	nonsynonymous SNV	exon20	c.A2624G	p.H875R	LRHTGPEEEATVHDGSEEEDDDYGL	LRHTGPEEEATVRDGSEEEDDDYGL	5.0	10.0	-	-	4234_10:101590067-101590067 A>G_LRHTGPEEEATVRDGSEEEDDDYGL
2:45169784-45169784 C>A	0.0	4234	LUNG	-	-	-	-	SIX3	uc002run.2,p.R181S|NM_005413,p.R181S|ENST00000260653,p.R181S	protein_coding	uc002run.2	nonsynonymous SNV	exon1	c.C541A	p.R181S	WLEAHYQEAEKLRGRPLGPVDKYRV	WLEAHYQEAEKLSGRPLGPVDKYRV	2.0	6.0	unscreened	-	4234_2:45169784-45169784 C>A_WLEAHYQEAEKLSGRPLGPVDKYRV
10:15761713-15761713 G>A	0.0	4234	LUNG	-	-	-	-	ITGA8	uc001ioc.1,p.L20F|ENST00000378076,p.L20F|NM_003638,p.L20F|NM_001291494,p.L20F|uc010qcb.1,p.L20F	protein_coding, processed_transcript	uc010qcb.1	nonsynonymous SNV	exon1	c.C58T	p.L20F	GPRGSQAPLIAPLCCAAAALGMLLW	GPRGSQAPLIAPFCCAAAALGMLLW	3.0	3.0	unscreened	-	4234_10:15761713-15761713 G>A_GPRGSQAPLIAPFCCAAAALGMLLW
9:101778346-101778346 C>T	0.0	4234	LUNG	-	-	-	-	COL15A1	ENST00000375001,p.P531L|NM_001855,p.P531L|uc004azb.2,p.P531L	retained_intron, protein_coding, processed_transcript	uc004azb.2	nonsynonymous SNV	exon11	c.C1592T	p.P531L	ITAGGEESGSPPPDGPPLPLPTVAP	ITAGGEESGSPPLDGPPLPLPTVAP	9.0	2.0	-	-	4234_9:101778346-101778346 C>T_ITAGGEESGSPPLDGPPLPLPTVAP
X:54975533-54975533 C>A	0.0	4234	LUNG	-	-	-	-	PFKFB1	NM_001271804,p.W301L|uc031tjq.1,p.W96L|ENST00000545676,p.W258L|ENST00000375006,p.W323L|uc011mol.2,p.W258L|NM_002625,p.W323L|uc004dty.2,p.W323L|uc031tjp.1,p.W301L|NM_001271805,p.W258L	protein_coding	uc031tjq.1	nonsynonymous SNV	exon8	c.G287T	p.W96L	QTAEALGVPYEQWKALNEIDAGVCE	QTAEALGVPYEQLKALNEIDAGVCE	4.0	9.0	unscreened	-	4234_X:54975533-54975533 C>A_QTAEALGVPYEQLKALNEIDAGVCE
7:149462123-149462123 C>A	1.0	4234	LUNG	-	-	-	-	ZNF467	NM_207336,p.A490S|ENST00000302017,p.A490S|uc003wgd.2,p.A490S	protein_coding	uc003wgd.2	nonsynonymous SNV	exon5	c.G1468T	p.A490S	SRAHSGARPFACAQCGRRFSRKSHL	SRAHSGARPFACSQCGRRFSRKSHL	6.0	7.0	-	-	4234_7:149462123-149462123 C>A_SRAHSGARPFACSQCGRRFSRKSHL
X:55247073-55247073 C>G	0.0	4234	LUNG	0.0006	-	-	-	PAGE5	uc004duj.3,p.T14R|NM_130467,p.T14R|ENST00000289619,p.T14R	protein_coding	uc004duj.3	nonsynonymous SNV	exon1	c.C41G	p.T14R	QAPWAGNRGWAGTREEVRDMSEHVT	QAPWAGNRGWAGRREEVRDMSEHVT	1.0	8.0	unscreened	-	4234_X:55247073-55247073 C>G_QAPWAGNRGWAGRREEVRDMSEHVT
7:140774432-140774432 C>A	0.0	4234	LUNG	-	-	-	-	TMEM178B	NM_001195278,p.L108I|ENST00000565468,p.L108I|uc003vwg.2,p.L108I	retained_intron, protein_coding	uc003vwg.2	nonsynonymous SNV	exon1	c.C322A	p.L108I	ECSRQYNSTNMGLWRKCHRQGFDPE	ECSRQYNSTNMGIWRKCHRQGFDPE	4.0	6.0	unscreened	-	4234_7:140774432-140774432 C>A_ECSRQYNSTNMGIWRKCHRQGFDPE
1:152538509-152538509 C>A	0.0	4234	LUNG	-	-	-	-	LCE3E	ENST00000368789,p.R59L|uc021oyz.1,p.R59L|NM_178435,p.R59L|uc001faa.4,p.R59L	protein_coding	uc021oyz.1	nonsynonymous SNV	exon1	c.G176T	p.R59L	SSEGGCFLNHHRRHHRCRRQRSNSC	SSEGGCFLNHHRLHHRCRRQRSNSC	1.0	6.0	unscreened	-	4234_1:152538509-152538509 C>A_SSEGGCFLNHHRLHHRCRRQRSNSC
5:95011142-95011142 G>T	0.0	4234	LUNG	-	-	-	-	SPATA9	ENST00000395899,p.P118T|ENST00000489917,p.P118T	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000489917	nonsynonymous SNV	exon3	c.C352A	p.P118T	DISGRLLREVNAPRQPLYNIQEKKM	DISGRLLREVNATRQPLYNIQEKKM	5.0	7.0	unscreened	-	4234_5:95011142-95011142 G>T_DISGRLLREVNATRQPLYNIQEKKM
11:101762326-101762326 T>C	0.0	4234	LUNG	-	-	-	-	ANGPTL5	NM_178127,p.D284G|uc001pgl.3,p.D284G|ENST00000334289,p.D284G	protein_coding	uc001pgl.3	nonsynonymous SNV	exon9	c.A851G	p.D284G	KMHLGRYSGNAGDAFRGLKKEDNQN	KMHLGRYSGNAGGAFRGLKKEDNQN	2.0	5.0	unscreened	-	4234_11:101762326-101762326 T>C_KMHLGRYSGNAGGAFRGLKKEDNQN
19:18368106-18368107 CT>-	0.0	4234	LUNG	-	-	-	-	KIAA1683	NM_025249,p.I1142fs|NM_001145304,p.I1329fs|NM_001145305,p.I1096fs|ENST00000392413,p.I1329fs|ENST00000600359,p.I1096fs|uc002nin.2,p.I1142fs|ENST00000600328,p.I1142fs|uc010ebn.2,p.I1329fs|uc010xqe.1,p.I1096fs	retained_intron, protein_coding, processed_transcript	uc010xqe.1	frameshift deletion	exon4	c.3288_3289del	p.I1096fs	RQQMRQQQMAAKIVQATWRGHHTRS	RQQMRQQQMAAKISSHLARPPYPELSEEHRGALGTSRPLGQLTAHALAWHL	2.0	6.0	unscreened	 reached end of cDNA	4234_19:18368106-18368107 CT>-_RQQMRQQQMAAKISSHLARPPYPELSEEHRGALGTSRPLGQLTAHALAWHL
2:141773332-141773332 G>T	0.0	4234	LUNG	-	-	-	1	LRP1B	ENST00000389484,p.T708K|uc002tvj.1,p.T708K|NM_018557,p.T708K	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon13	c.C2123A	p.T708K	WPNGLTLDFHTNTLYWCDAYYDHIE	WPNGLTLDFHTNKLYWCDAYYDHIE	1.0	6.0	unscreened	-	4234_2:141773332-141773332 G>T_WPNGLTLDFHTNKLYWCDAYYDHIE
19:41040069-41040069 C>T	0.0	4234	LUNG	-	-	-	-	SPTBN4	NM_020971,p.A1393V|uc002ooa.3,p.A69V|uc010egy.1,p.A69V|uc002ony.3,p.A1393V|uc010egz.1,p.A69V|NM_025213,p.A69V|ENST00000352632,p.A1393V|ENST00000392023,p.A69V|ENST00000595535,p.A1393V|ENST00000338932,p.A1393V|ENST00000598249,p.A1393V|uc002onx.3,p.A1393V|ENST00000392025,p.A136V|uc002onz.3,p.A1393V|uc010egx.3,p.A136V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010egz.1	nonsynonymous SNV	exon3	c.C206T	p.A69V	VRKKLGEIRQCWAELESTTQAKARQ	VRKKLGEIRQCWVELESTTQAKARQ	4.0	2.0	unscreened	-	4234_19:41040069-41040069 C>T_VRKKLGEIRQCWVELESTTQAKARQ
X:54319382-54319382 G>A	0.0	4234	LUNG	-	-	-	-	WNK3	ENST00000354646,p.P659L|uc004dtc.2,p.P659L|ENST00000375159,p.P659L|ENST00000375169,p.P659L|NM_001002838,p.P659L|uc004dtd.2,p.P659L|NM_020922,p.P659L	protein_coding	uc004dtd.2	nonsynonymous SNV	exon10	c.C1976T	p.P659L	GQSTVLPVHVLGPTVVSQPQVSPLT	GQSTVLPVHVLGLTVVSQPQVSPLT	2.0	1.0	unscreened	-	4234_X:54319382-54319382 G>A_GQSTVLPVHVLGLTVVSQPQVSPLT
20:37356491-37356491 G>T	0.0	4234	LUNG	-	-	-	-	SLC32A1	ENST00000217420,p.V263L|uc002xjc.3,p.V263L|NM_080552,p.V263L	protein_coding	uc002xjc.3	nonsynonymous SNV	exon2	c.G787T	p.V263L	LLPCAFLKNLKAVSKFSLLCTLAHF	LLPCAFLKNLKALSKFSLLCTLAHF	1.0	4.0	unscreened	-	4234_20:37356491-37356491 G>T_LLPCAFLKNLKALSKFSLLCTLAHF
3:11078632-11078632 A>T	0.0	4234	LUNG	-	-	-	-	SLC6A1	ENST00000287766,p.S594C|uc031ryl.1,p.S416C|NM_003042,p.S594C|uc010hdq.3,p.S594C|ENST00000536032,p.S416C	retained_intron, protein_coding, processed_transcript	uc031ryl.1	nonsynonymous SNV	exon13	c.A1246T	p.S416C	NGPEQPQAGSSTSKEAYI	NGPEQPQAGSSTCKEAYI	4.0	9.0	unscreened	-	4234_3:11078632-11078632 A>T_NGPEQPQAGSSTCKEAYI
19:45150645-45150645 T>A	1.0	4234	LUNG	-	-	-	-	PVR	uc010xxb.2,p.V77D|NM_001135770,p.V77D|NM_006505,p.V77D|NM_001135769,p.V77D|uc002ozn.3,p.V22D|ENST00000344956,p.V77D|ENST00000425690,p.V77D|uc010ejs.3,p.V77D|ENST00000403059,p.V77D|uc002ozm.3,p.V77D|ENST00000406449,p.V77D|uc010xxc.2,p.V77D|NM_001135768,p.V77D	protein_coding, nonsense_mediated_decay	uc010xxc.2	nonsynonymous SNV	exon2	c.T230A	p.V77D	TWARHGESGSMAVFHQTQGPSYSES	TWARHGESGSMADFHQTQGPSYSES	10.0	1.0	-	-	4234_19:45150645-45150645 T>A_TWARHGESGSMADFHQTQGPSYSES
2:234847772-234847772 G>T	0.0	4234	LUNG	-	-	-	-	TRPM8	uc002vvj.3,p.R83L|NM_024080,p.R160L|ENST00000324695,p.R160L|uc002vvh.3,p.R160L|ENST00000355722,p.R110L|uc002vvi.3,p.R110L|ENST00000409625,p.R83L|ENST00000444298,p.R160L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002vvj.3	nonsynonymous SNV	exon3	c.G248T	p.R83L	VTGGAKNFALKPRMRKIFSRLIYIA	VTGGAKNFALKPLMRKIFSRLIYIA	1.0	8.0	unscreened	-	4234_2:234847772-234847772 G>T_VTGGAKNFALKPLMRKIFSRLIYIA
7:154672611-154672611 G>A	0.0	4234	LUNG	-	-	-	-	DPP6	uc011kvq.2,p.E591K|uc003wli.3,p.E634K|uc003wlk.3,p.E698K|NM_001290252,p.E591K|ENST00000332007,p.E636K|ENST00000427557,p.E591K|NM_130797,p.E698K|uc003wlm.3,p.E636K|ENST00000377770,p.E698K|NM_001936,p.E636K|NM_001039350,p.E634K|ENST00000404039,p.E634K	retained_intron, protein_coding, processed_transcript	uc011kvq.2	nonsynonymous SNV	exon19	c.G1771A	p.E591K	KDQMEAVRTMLKEQYIDRTRVAVFG	KDQMEAVRTMLKKQYIDRTRVAVFG	3.0	5.0	unscreened	-	4234_7:154672611-154672611 G>A_KDQMEAVRTMLKKQYIDRTRVAVFG
10:48438697-48438697 G>T	0.0	4234	LUNG	-	-	-	-	GDF10	ENST00000224605,p.P5H|uc009xnq.2,p.P5H|uc001jfb.3,p.P5H|NM_004962,p.P5H|uc009xnp.3,p.P5H	protein_coding	uc009xnq.2	nonsynonymous SNV	exon1	c.C14A	p.P5H	MAHVPARTSPGPGPQLL	MAHVHARTSPGPGPQLL	5.0	9.0	unscreened	-	4234_10:48438697-48438697 G>T_MAHVHARTSPGPGPQLL
15:40574027-40574027 C>-	0.0	4234	LUNG	-	-	-	-	ANKRD63	NM_001190479,p.G254fs|ENST00000434396,p.G254fs|uc021sjf.1,p.G254fs	protein_coding	uc021sjf.1	frameshift deletion	exon1	c.761delG	p.G254fs	RHRAQGSERPELGRSMSLALGAVTEE	RHRAQGSERPELVGA	1.0	4.0	unscreened	-	4234_15:40574027-40574027 C>-_RHRAQGSERPELVGA
13:36744802-36744802 A>G	0.0	4234	LUNG	-	-	-	-	CCDC169-SOHLH2,SOHLH2	uc010tei.2,p.Y452H|ENST00000379881,p.Y375H|NM_017826,p.Y375H|ENST00000511166,p.Y452H|uc001uvj.3,p.Y375H|ENST00000554962,p.Y452H|NM_001198910,p.Y452H	protein_coding	uc010tei.2	nonsynonymous SNV	exon15	c.T1354C	p.Y452H	HTVRYYSKVTPSYDATAVTNQNISI	HTVRYYSKVTPSHDATAVTNQNISI	2.0	8.0	unscreened	-	4234_13:36744802-36744802 A>G_HTVRYYSKVTPSHDATAVTNQNISI
11:49080302-49080302 C>T	0.0	4234	LUNG	-	-	-	-	TRIM64C	uc021qiy.1,p.M121I|ENST00000530230,p.M121I|NM_001206631,p.M121I	protein_coding	uc021qiy.1	nonsynonymous SNV	exon1	c.G363A	p.M121I	LLCGPCSESPEHMAHSHSPIGWAAE	LLCGPCSESPEHIAHSHSPIGWAAE	1.0	8.0	unscreened	-	4234_11:49080302-49080302 C>T_LLCGPCSESPEHIAHSHSPIGWAAE
11:56000067-56000068 TA>-	0.0	4234	LUNG	-	-	-	-	OR5T2	uc010rjc.2,p.H198fs|NM_001004746,p.H198fs|ENST00000313264,p.H198fs	protein_coding	uc010rjc.2	frameshift deletion	exon1	c.594_595del	p.H198fs	ASYVAGILHATIHTVATFSLSFCGAN	ASYVAGILHATIHSGYI	1.0	7.0	unscreened	-	4234_11:56000067-56000068 TA>-_ASYVAGILHATIHSGYI
4:30921857-30921857 G>C	0.0	4234	LUNG	-	-	-	-	PCDH7	ENST00000543491,p.G1086A|NM_032457,p.G1086A|uc011bxx.2,p.G1086A|uc021xnd.1,p.G1086A|NM_001173523,p.G1086A	protein_coding, processed_transcript	uc021xnd.1	nonsynonymous SNV	exon2	c.G3257C	p.G1086A	PHQGSLQSCYDSGLEESETPSSKSS	PHQGSLQSCYDSALEESETPSSKSS	8.0	3.0	-	-	4234_4:30921857-30921857 G>C_PHQGSLQSCYDSALEESETPSSKSS
11:58126299-58126299 C>A	0.0	4234	LUNG	-	-	-	-	OR5B17	ENST00000357377,p.G82W|NM_001005489,p.G82W|uc010rke.2,p.G82W	protein_coding	uc010rke.2	nonsynonymous SNV	exon1	c.G244T	p.G82W	GYSSAVTPKVLTGLLIEDKAISYSA	GYSSAVTPKVLTWLLIEDKAISYSA	1.0	2.0	unscreened	-	4234_11:58126299-58126299 C>A_GYSSAVTPKVLTWLLIEDKAISYSA
5:150723796-150723796 C>A	0.0	4234	LUNG	-	-	-	-	SLC36A2	uc003lty.3,p.G66V|ENST00000335244,p.G66V|ENST00000518280,p.G66V|NM_181776,p.G66V|uc010jhv.2,p.G66V|ENST00000521967,p.G66V|uc011dct.1,p.G66V|ENST00000518617,p.G66V	retained_intron, protein_coding, nonsense_mediated_decay	uc011dct.1	nonsynonymous SNV	exon2	c.G197T	p.G66V	ITVFQALIHLVKGNMGTGILGLPLA	ITVFQALIHLVKVNMGTGILGLPLA	1.0	1.0	unscreened	-	4234_5:150723796-150723796 C>A_ITVFQALIHLVKVNMGTGILGLPLA
7:27283022-27283022 G>T	0.0	4234	LUNG	-	-	-	-	EVX1	NM_001989,p.V125L	-	NM_001989	nonsynonymous SNV	exon1	c.G373T	p.V125L	SDTESDFYEEIEVSCTPDCATGNAE	SDTESDFYEEIELSCTPDCATGNAE	1.0	8.0	unscreened	-	4234_7:27283022-27283022 G>T_SDTESDFYEEIELSCTPDCATGNAE
1:215901443-215901443 G>T	0.0	4234	LUNG	-	-	-	-	USH2A	ENST00000366943,p.R3999S|ENST00000307340,p.R3999S|NM_206933,p.R3999S|uc001hku.1,p.R3999S	retained_intron, protein_coding	uc001hku.1	nonsynonymous SNV	exon61	c.C11995A	p.R3999S	KPESPNGIISHYRVVYQERPDDPTF	KPESPNGIISHYSVVYQERPDDPTF	3.0	7.0	unscreened	-	4234_1:215901443-215901443 G>T_KPESPNGIISHYSVVYQERPDDPTF
20:17339004-17339004 C>-	0.0	4234	LUNG	-	-	-	-	PCSK2	ENST00000536609,p.D70fs|NM_001201529,p.D70fs|uc010zrm.2,p.D70fs	protein_coding, processed_transcript	uc010zrm.2	frameshift deletion	exon2	c.210delC	p.D70fs	RKVKMALQQEGFDRKKRGYRDINEID	RKVKMALQQEGFDEKSEVTETSMRSTST	1.0	5.0	unscreened	-	4234_20:17339004-17339004 C>-_RKVKMALQQEGFDEKSEVTETSMRSTST
20:17339004-17339004 C>-	0.0	4234	LUNG	-	-	-	-	PCSK2	NM_001201528,p.D86fs|ENST00000262545,p.D105fs|uc002wpl.3,p.D86fs|NM_002594,p.D105fs|uc002wpm.3,p.D105fs|ENST00000377899,p.D86fs	protein_coding, processed_transcript	uc002wpm.3	frameshift deletion	exon3	c.315delC	p.D105fs	PRVKMALQQEGFDRKKRGYRDINEID	PRVKMALQQEGFDEKSEVTETSMRSTST	1.0	5.0	unscreened	-	4234_20:17339004-17339004 C>-_PRVKMALQQEGFDEKSEVTETSMRSTST
2:220355633-220355633 G>T	0.0	4234	LUNG	-	-	-	-	SPEG	ENST00000312358,p.A3114S|NM_005876,p.A3114S|uc010fwg.3,p.A3114S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fwg.3	nonsynonymous SNV	exon38	c.G9340T	p.A3114S	VDFGSAQPYNPQALRPLGHRTGTLE	VDFGSAQPYNPQSLRPLGHRTGTLE	8.0	3.0	-	-	4234_2:220355633-220355633 G>T_VDFGSAQPYNPQSLRPLGHRTGTLE
19:47589676-47589676 C>G	0.0	4234	LUNG	-	-	-	-	ZC3H4	uc002pga.4,p.E279Q|NM_015168,p.E279Q|ENST00000253048,p.E279Q	retained_intron, protein_coding, processed_transcript	uc002pga.4	nonsynonymous SNV	exon6	c.G835C	p.E279Q	GRGRGSMGGDHPEDEEDFYEEEMDY	GRGRGSMGGDHPQDEEDFYEEEMDY	6.0	9.0	unscreened	-	4234_19:47589676-47589676 C>G_GRGRGSMGGDHPQDEEDFYEEEMDY
9:80851276-80851276 T>A	0.0	4234	LUNG	-	-	-	-	CEP78	uc004aky.4,p.S4T|ENST00000376597,p.S4T|ENST00000415759,p.S4T|ENST00000424347,p.S4T|uc010mpp.3,p.S4T|NM_001098802,p.S4T|ENST00000376598,p.S4T|NM_032171,p.S4T|uc004akx.2,p.S4T|ENST00000277082,p.S4T	retained_intron, protein_coding, processed_transcript	uc010mpp.3	nonsynonymous SNV	exon1	c.T10A	p.S4T	MIDSVKLRRDSAADFF	MIDTVKLRRDSAADFF	6.0	9.0	unscreened	-	4234_9:80851276-80851276 T>A_MIDTVKLRRDSAADFF
11:119031051-119031051 C>G	0.0	4234	LUNG	-	-	-	-	ABCG4	ENST00000531739,p.Q518E|uc009zar.3,p.Q518E|ENST00000307417,p.Q518E|NM_022169,p.Q518E|ENST00000449422,p.Q518E|NM_001142505,p.Q518E|uc001pvs.3,p.Q518E	retained_intron, protein_coding	uc009zar.3	nonsynonymous SNV	exon13	c.C1552G	p.Q518E	FSALATATALVAQSLGLLIGAASNS	FSALATATALVAESLGLLIGAASNS	3.0	2.0	unscreened	-	4234_11:119031051-119031051 C>G_FSALATATALVAESLGLLIGAASNS
8:3063118-3063118 C>A	0.0	4234	LUNG	-	-	ID=COSM319698,COSM319699;OCCURENCE=1(lung)	-	CSMD1	ENST00000602557,p.G1632V|ENST00000539096,p.G1631V|NM_033225,p.G1631V|ENST00000537824,p.G1631V|uc022aqr.1,p.G1631V|uc011kwj.2,p.G1024V|ENST00000520002,p.G1632V|ENST00000400186,p.G1632V|uc003wqe.3,p.G788V|ENST00000602723,p.G1632V|ENST00000542608,p.G1631V	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon31	c.G4892T	p.G1631V	PSCNAPCGGQYTGSEGVVLSPNYPH	PSCNAPCGGQYTVSEGVVLSPNYPH	2.0	5.0	unscreened	-	4234_8:3063118-3063118 C>A_PSCNAPCGGQYTVSEGVVLSPNYPH
5:115338541-115338541 G>T	0.0	4234	LUNG	-	-	-	-	AQPEP	uc003kro.3,p.W610C|ENST00000395528,p.W127C|ENST00000512314,p.W127C|ENST00000514509,p.W127C|ENST00000504467,p.W610C|ENST00000357872,p.W610C|ENST00000503329,p.W127C|NM_173800,p.W610C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003kro.3	nonsynonymous SNV	exon11	c.G1830T	p.W610C	IKNRTLLTSNDTWIVPILWIKNGTT	IKNRTLLTSNDTCIVPILWIKNGTT	1.0	3.0	unscreened	-	4234_5:115338541-115338541 G>T_IKNRTLLTSNDTCIVPILWIKNGTT
9:132623261-132623261 G>T	1.0	4234	LUNG	-	-	-	-	USP20	NM_001008563,p.V126L|uc004byt.2,p.V126L|uc004byr.3,p.V126L|NM_006676,p.V126L|ENST00000315480,p.V126L|uc004bys.3,p.V126L|ENST00000372429,p.V126L|ENST00000358355,p.V126L|NM_001110303,p.V126L	protein_coding, processed_transcript	uc004byt.2	nonsynonymous SNV	exon7	c.G376T	p.V126L	PPSHPLKAVPIAVADEGESESEDDD	PPSHPLKAVPIALADEGESESEDDD	8.0	5.0	-	-	4234_9:132623261-132623261 G>T_PPSHPLKAVPIALADEGESESEDDD
7:100174618-100174618 T>C	1.0	4234	LUNG	-	-	-	-	LRCH4	ENST00000310300,p.K459E|NM_001289934,p.K459E|NM_002319,p.K459E|uc003uvj.3,p.K459E	retained_intron, protein_coding	uc003uvj.3	nonsynonymous SNV	exon13	c.A1375G	p.K459E	AVSTQAMHNGSPKSSASQAGAAAGQ	AVSTQAMHNGSPESSASQAGAAAGQ	9.0	4.0	-	-	4234_7:100174618-100174618 T>C_AVSTQAMHNGSPESSASQAGAAAGQ
12:81026049-81026049 C>A	0.0	4234	LUNG	-	-	-	-	PTPRQ	uc001sze.2,p.T1750K|NM_001145026,p.T1750K	retained_intron, protein_coding, processed_transcript	uc001sze.2	nonsynonymous SNV	exon31	c.C5249A	p.T1750K	ITMDIKAPARPKTKPTPIYDATGKL	ITMDIKAPARPKKKPTPIYDATGKL	1.0	8.0	unscreened	-	4234_12:81026049-81026049 C>A_ITMDIKAPARPKKKPTPIYDATGKL
4:57776839-57776839 G>C	0.0	4234	LUNG	-	-	-	-	REST	uc031sfp.1,p.G12A|uc031sex.1,p.G12A|uc031sfl.1,p.G12A|NM_001193508,p.G12A|uc031ses.1,p.G12A|uc031sff.1,p.G12A|uc031sfq.1,p.G12A|uc031ser.1,p.G12A|NM_005612,p.G12A|uc031sfd.1,p.G12A|ENST00000309042,p.G12A|uc003hci.3,p.G12A|uc031sfn.1,p.G12A|uc003hch.3,p.G12A|uc031sfh.1,p.G12A	retained_intron, protein_coding, processed_transcript	uc031sfq.1	nonsynonymous SNV	exon2	c.G35C	p.G12A	MATQVMGQSSGGGGLFTSSGNIGM	MATQVMGQSSGAGGLFTSSGNIGM	7.0	7.0	unscreened	-	4234_4:57776839-57776839 G>C_MATQVMGQSSGAGGLFTSSGNIGM
11:30439145-30439145 G>T	0.0	4234	LUNG	-	-	-	-	MPPED2	ENST00000448418,p.P191H|uc009yji.3,p.P65H|uc001msr.3,p.P191H|NM_001584,p.P191H|NM_001145399,p.P191H|ENST00000358117,p.P191H|uc001msq.3,p.P191H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009yji.3	nonsynonymous SNV	exon6	c.C194A	p.P65H	WTPWFNGWGFNLPRGQSLLDKWNLI	WTPWFNGWGFNLHRGQSLLDKWNLI	4.0	7.0	unscreened	-	4234_11:30439145-30439145 G>T_WTPWFNGWGFNLHRGQSLLDKWNLI
20:61940001-61940001 G>T	0.0	4234	LUNG	-	-	-	-	COL20A1	uc011aau.2,p.D295Y|ENST00000435874,p.D302Y|uc011aav.2,p.D116Y|ENST00000422202,p.D302Y|NM_020882,p.D295Y|ENST00000326996,p.D295Y|ENST00000358894,p.D295Y	retained_intron, protein_coding, processed_transcript	uc011aav.2	nonsynonymous SNV	exon4	c.G346T	p.D116Y	VVILVTDGKSQDDVHTAARVLKDLG	VVILVTDGKSQDYVHTAARVLKDLG	1.0	6.0	unscreened	-	4234_20:61940001-61940001 G>T_VVILVTDGKSQDYVHTAARVLKDLG
1:211652455-211652455 C>T	0.0	4234	LUNG	-	-	-	-	RD3	uc001hin.2,p.E171K|NM_183059,p.E171K|ENST00000367002,p.E171K|NM_001164688,p.E171K|uc001him.2,p.E171K	protein_coding, processed_transcript	uc001hin.2	nonsynonymous SNV	exon3	c.G511A	p.E171K	ISPFASDIRTISEDVERDTPPPLRS	ISPFASDIRTISKDVERDTPPPLRS	1.0	8.0	unscreened	-	4234_1:211652455-211652455 C>T_ISPFASDIRTISKDVERDTPPPLRS
7:158622052-158622052 C>T	1.0	4234	LUNG	-	-	-	-	ESYT2	uc003wod.1,p.A68T|ENST00000251527,p.A68T|uc003wob.1,p.A68T|NM_020728,p.A68T|ENST00000275418,p.A38T	protein_coding, processed_transcript	uc003wod.1	nonsynonymous SNV	exon1	c.G202A	p.A68T	GPEAGAGGAGGRAAPENPGGVLSVE	GPEAGAGGAGGRTAPENPGGVLSVE	9.0	6.0	-	-	4234_7:158622052-158622052 C>T_GPEAGAGGAGGRTAPENPGGVLSVE
11:121485638-121485638 G>T	0.0	4234	LUNG	-	-	-	-	SORL1	ENST00000525532,p.L770F|ENST00000260197,p.L1826F|ENST00000527934,p.L441F|uc010rzp.1,p.L672F|ENST00000532694,p.L672F|NM_003105,p.L1826F|uc010rzq.1,p.L441F|uc001pxx.3,p.L1826F|ENST00000534286,p.L736F	retained_intron, protein_coding, processed_transcript	uc010rzq.1	nonsynonymous SNV	exon12	c.G1323T	p.L441F	TSYEISAWAKTDLGDSPLAFEHVMT	TSYEISAWAKTDFGDSPLAFEHVMT	6.0	2.0	unscreened	-	4234_11:121485638-121485638 G>T_TSYEISAWAKTDFGDSPLAFEHVMT
5:174870076-174870076 C>A	0.0	4234	LUNG	-	-	-	-	DRD1	uc003mcz.3,p.M9I|uc021yia.1,p.M9I|NM_000794,p.M9I|ENST00000393752,p.M9I	protein_coding	uc021yia.1	nonsynonymous SNV	exon1	c.G27T	p.M9I	MRTLNTSAMDGTGLVVERDFS	MRTLNTSAIDGTGLVVERDFS	1.0	4.0	unscreened	-	4234_5:174870076-174870076 C>A_MRTLNTSAIDGTGLVVERDFS
X:144905784-144905784 C>A	0.0	4234	LUNG	-	-	-	-	SLITRK2	NM_001144010,p.T614N|ENST00000447897,p.T614N|NM_001144003,p.T614N|uc010nso.3,p.T614N|NM_001144006,p.T614N|uc011mwt.2,p.T614N|ENST00000428560,p.T614N|uc004fcg.3,p.T614N|NM_001144009,p.T614N|NM_001144004,p.T614N|ENST00000370490,p.T614N|NM_032539,p.T614N|NM_001144005,p.T614N|uc022cfn.1,p.T614N|uc011mws.2,p.T614N|ENST00000413937,p.T614N|uc004fcd.3,p.T614N|uc010nsp.3,p.T614N|uc011mwr.2,p.T614N|ENST00000335565,p.T614N|uc011mwq.2,p.T614N|ENST00000434188,p.T614N|NM_001144008,p.T614N	protein_coding	uc022cfn.1	nonsynonymous SNV	exon1	c.C1841A	p.T614N	LSVSPSSYPELHTEVPLSVLILGLL	LSVSPSSYPELHNEVPLSVLILGLL	3.0	4.0	unscreened	-	4234_X:144905784-144905784 C>A_LSVSPSSYPELHNEVPLSVLILGLL
12:7805325-7805325 A>T	0.0	4234	LUNG	-	-	-	-	APOBEC1	uc001qtb.3,p.W51R|NM_001644,p.W51R|ENST00000229304,p.W51R	protein_coding, nonsense_mediated_decay	uc001qtb.3	nonsynonymous SNV	exon3	c.T151A	p.W51R	LYEIKWGMSRKIWRSSGKNTTNHVE	LYEIKWGMSRKIRRSSGKNTTNHVE	1.0	4.0	unscreened	-	4234_12:7805325-7805325 A>T_LYEIKWGMSRKIRRSSGKNTTNHVE
22:26688875-26688875 C>A	0.0	4234	LUNG	-	-	-	-	SEZ6L	ENST00000529632,p.L200M|NM_001184776,p.L200M|ENST00000360929,p.L200M|NM_001184773,p.L200M|NM_021115,p.L200M|uc003acb.3,p.L200M|uc003acc.3,p.L200M|NM_001184775,p.L200M|ENST00000248933,p.L200M|uc003acd.3,p.L200M|uc011akd.2,p.L200M|uc011akc.2,p.L200M|uc003ace.3,p.L200M|NM_001184777,p.L200M|ENST00000404234,p.L200M|ENST00000343706,p.L200M|NM_001184774,p.L200M	retained_intron, protein_coding, processed_transcript	uc011akd.2	nonsynonymous SNV	exon2	c.C598A	p.L200M	RKESAVPTTPAPLQISPFTSQPYVA	RKESAVPTTPAPMQISPFTSQPYVA	2.0	4.0	unscreened	-	4234_22:26688875-26688875 C>A_RKESAVPTTPAPMQISPFTSQPYVA
7:84628864-84628864 C>A	0.0	4234	LUNG	-	-	-	-	SEMA3D	NM_152754,p.Q742H|uc010led.3,p.Q742H|uc003uic.3,p.Q742H|uc003uib.3,p.Q381H|ENST00000284136,p.Q742H	retained_intron, protein_coding, processed_transcript	uc010led.3	nonsynonymous SNV	exon18	c.G2226T	p.Q742H	YCEQMWHREKRRQRNKGGPKWKHMQ	YCEQMWHREKRRHRNKGGPKWKHMQ	4.0	5.0	unscreened	-	4234_7:84628864-84628864 C>A_YCEQMWHREKRRHRNKGGPKWKHMQ
19:19338698-19338698 G>C	0.0	4234	LUNG	-	-	-	-	NCAN	ENST00000252575,p.E757Q|ENST00000538881,p.E208Q|uc002nlz.3,p.E757Q|NM_004386,p.E757Q|uc010ecc.1,p.E321Q	retained_intron, protein_coding	uc010ecc.1	nonsynonymous SNV	exon2	c.G961C	p.E321Q	TEPTGLRGIPGSESGVFDTAESPTS	TEPTGLRGIPGSQSGVFDTAESPTS	1.0	8.0	unscreened	-	4234_19:19338698-19338698 G>C_TEPTGLRGIPGSQSGVFDTAESPTS
20:44845497-44845497 T>A	0.0	4234	LUNG	-	-	-	-	CDH22	ENST00000537909,p.D269V|uc010ghk.2,p.D269V|ENST00000372262,p.D269V|NM_021248,p.D269V|uc002xrn.2,p.D20V	protein_coding, processed_transcript	uc010ghk.2	nonsynonymous SNV	exon5	c.A806T	p.D269V	LSGSTTVTIVVTDVNDNPPRFPQKM	LSGSTTVTIVVTVVNDNPPRFPQKM	1.0	5.0	unscreened	-	4234_20:44845497-44845497 T>A_LSGSTTVTIVVTVVNDNPPRFPQKM
11:55563959-55563959 C>A	0.0	4234	LUNG	-	-	-	-	OR5D14	ENST00000335605,p.Q310K|NM_001004735,p.Q310K|uc010rim.2,p.Q310K	protein_coding	uc010rim.2	nonsynonymous SNV	exon1	c.C928A	p.Q310K	DVKDAFWKLIHTQVPFH	DVKDAFWKLIHTKVPFH	1.0	7.0	unscreened	-	4234_11:55563959-55563959 C>A_DVKDAFWKLIHTKVPFH
5:178413665-178413665 C>A	0.0	4234	LUNG	-	-	ID=COSM1543105;OCCURENCE=1(lung)	-	GRM6	uc003mjs.1,p.M150I|ENST00000231188,p.M530I|ENST00000517717,p.M530I|uc003mjr.3,p.M530I|uc010jla.1,p.M113I|NM_000843,p.M530I	retained_intron, protein_coding, processed_transcript	uc010jla.1	nonsynonymous SNV	exon4	c.G339T	p.M113I	CSLPCGPGERKKMVKGVPCCWHCEA	CSLPCGPGERKKIVKGVPCCWHCEA	1.0	6.0	unscreened	-	4234_5:178413665-178413665 C>A_CSLPCGPGERKKIVKGVPCCWHCEA
5:24492935-24492935 C>G	0.0	4234	LUNG	-	-	-	2	CDH10	uc003jgr.2,p.D539H|NM_006727,p.D539H|ENST00000264463,p.D539H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jgr.2	nonsynonymous SNV	exon10	c.G1615C	p.D539H	SLAAVNPNFTVQDNEDNTARILTRK	SLAAVNPNFTVQHNEDNTARILTRK	1.0	7.0	unscreened	-	4234_5:24492935-24492935 C>G_SLAAVNPNFTVQHNEDNTARILTRK
11:17631577-17631577 C>A	0.0	4234	LUNG	-	-	-	-	OTOG	uc001mnh.1,p.P595H|ENST00000399391,p.P1589H|NM_001292063,p.P1577H|uc031pzc.1,p.P1589H|ENST00000399397,p.P1516H|NM_001277269,p.P1589H|ENST00000342528,p.P595H	retained_intron, protein_coding, processed_transcript	uc031pzc.1	nonsynonymous SNV	exon35	c.C4766A	p.P1589H	PESSSLPVALQTPTPGMVSGAMETT	PESSSLPVALQTHTPGMVSGAMETT	1.0	1.0	unscreened	-	4234_11:17631577-17631577 C>A_PESSSLPVALQTHTPGMVSGAMETT
9:126774665-126774665 G>A	0.0	4234	LUNG	-	-	-	-	LHX2	uc010mwi.1,p.G13E|uc004boe.1,p.G13E|ENST00000373615,p.G13E|NM_004789,p.G13E	protein_coding, processed_transcript	uc010mwi.1	nonsynonymous SNV	exon1	c.G38A	p.G13E	MLFHSLSGPEVHGVIDEMDRRAKSE	MLFHSLSGPEVHEVIDEMDRRAKSE	1.0	1.0	unscreened	-	4234_9:126774665-126774665 G>A_MLFHSLSGPEVHEVIDEMDRRAKSE
3:164764735-164764735 G>T	0.0	4234	LUNG	-	-	-	-	SI	NM_001041,p.S594Y|uc003fei.3,p.S594Y|ENST00000264382,p.S594Y	retained_intron, protein_coding, nonsense_mediated_decay	uc003fei.3	nonsynonymous SNV	exon16	c.C1781A	p.S594Y	RSFILTRSTFAGSGRHAAHWLGDNT	RSFILTRSTFAGYGRHAAHWLGDNT	1.0	5.0	unscreened	-	4234_3:164764735-164764735 G>T_RSFILTRSTFAGYGRHAAHWLGDNT
3:137484339-137484339 C>A	0.0	4234	LUNG	-	-	-	-	SOX14	uc003erm.2,p.T238K|NM_004189,p.T238K|ENST00000306087,p.T238K	protein_coding	uc003erm.2	nonsynonymous SNV	exon1	c.C713A	p.T238K	KTGIDPYSSAHATAM	KTGIDPYSSAHAKAM	1.0	5.0	unscreened	-	4234_3:137484339-137484339 C>A_KTGIDPYSSAHAKAM
1:152287806-152287806 G>T	0.0	4234	LUNG	-	-	-	-	FLG	ENST00000368799,p.Q43K|NM_002016,p.Q43K|uc001ezu.1,p.Q43K	protein_coding	uc001ezu.1	nonsynonymous SNV	exon2	c.C127A	p.Q43K	KELKELLEKEFRQILKNPDDPDMVD	KELKELLEKEFRKILKNPDDPDMVD	2.0	4.0	unscreened	-	4234_1:152287806-152287806 G>T_KELKELLEKEFRKILKNPDDPDMVD
1:75037645-75037645 G>C	0.0	4234	LUNG	-	-	-	-	ERICH3	NM_001002912,p.S1250C|uc001dgg.3,p.S1250C|ENST00000326665,p.S1250C	protein_coding, processed_transcript	uc001dgg.3	nonsynonymous SNV	exon14	c.C3749G	p.S1250C	GQAEELAAKDHDSCAGLEGRAEGQG	GQAEELAAKDHDCCAGLEGRAEGQG	2.0	8.0	unscreened	-	4234_1:75037645-75037645 G>C_GQAEELAAKDHDCCAGLEGRAEGQG
17:61987225-61987225 T>A	0.0	4234	LUNG	0.0009	-	-	-	CSHL1	NM_001318,p.Q78L|ENST00000346606,p.Q78L|uc002jda.1,p.Q172L|uc002jdc.1,p.Q89L|ENST00000309894,p.Q172L|uc002jdb.1,p.Q78L|NM_022580,p.Q89L|ENST00000438387,p.Q89L|ENST00000259003,p.Q110L|uc002jdd.1,p.Q110L|uc002jcz.1,p.Q149L|NM_022581,p.Q149L|NM_022579,p.Q172L	retained_intron, protein_coding, ambiguous_orf	uc002jdd.1	nonsynonymous SNV	exon5	c.A329T	p.Q110L	EDGSHLTGQTLKQTYSKFDTNSHNH	EDGSHLTGQTLKLTYSKFDTNSHNH	1.0	5.0	unscreened	-	4234_17:61987225-61987225 T>A_EDGSHLTGQTLKLTYSKFDTNSHNH
11:55890566-55890566 A>T	0.0	4234	LUNG	-	-	-	-	OR8H3	uc001nii.1,p.T240S|NM_001005201,p.T240S|ENST00000313472,p.T240S	protein_coding	uc001nii.1	nonsynonymous SNV	exon1	c.A718T	p.T240S	INSTSGKQKAFSTCVSHLLGVTIFY	INSTSGKQKAFSSCVSHLLGVTIFY	1.0	2.0	unscreened	-	4234_11:55890566-55890566 A>T_INSTSGKQKAFSSCVSHLLGVTIFY
5:176827340-176827340 C>G	0.0	4234	LUNG	-	-	-	-	PFN3	uc003mgl.2,p.A80P|NM_001029886,p.A80P|ENST00000358571,p.A80P	protein_coding	uc003mgl.2	nonsynonymous SNV	exon1	c.G238C	p.A80P	GRRCCVIRDHLLAEGDGVLDARTKG	GRRCCVIRDHLLPEGDGVLDARTKG	1.0	4.0	unscreened	-	4234_5:176827340-176827340 C>G_GRRCCVIRDHLLPEGDGVLDARTKG
15:23890729-23890729 A>G	0.0	4234	LUNG	-	-	-	-	MAGEL2	ENST00000532292,p.C118R|uc001ywj.4,p.C721R|NM_019066,p.C721R	protein_coding	uc001ywj.4	nonsynonymous SNV	exon1	c.T2161C	p.C721R	GSAKSLMTPSGECRASSIDRRGSSK	GSAKSLMTPSGERRASSIDRRGSSK	3.0	2.0	unscreened	-	4234_15:23890729-23890729 A>G_GSAKSLMTPSGERRASSIDRRGSSK
1:75037710-75037710 C>A	0.0	4234	LUNG	-	-	-	-	ERICH3	NM_001002912,p.Q1228H|ENST00000326665,p.Q1228H|uc001dgg.3,p.Q1228H	protein_coding, processed_transcript	uc001dgg.3	nonsynonymous SNV	exon14	c.G3684T	p.Q1228H	LAAPEAEPAGKVQAPEGLIPATGQA	LAAPEAEPAGKVHAPEGLIPATGQA	2.0	7.0	unscreened	-	4234_1:75037710-75037710 C>A_LAAPEAEPAGKVHAPEGLIPATGQA
2:99012999-99012999 G>T	0.0	4234	LUNG	-	-	-	-	CNGA3	uc010fij.3,p.V460L|ENST00000436404,p.V438L|NM_001079878,p.V438L|ENST00000409937,p.V460L|uc002syt.3,p.V456L|ENST00000393504,p.V456L|ENST00000272602,p.V456L|NM_001298,p.V456L|uc002syu.3,p.V438L	retained_intron, protein_coding	uc010fij.3	nonsynonymous SNV	exon8	c.G1378T	p.V460L	LWANKKTVDEKEVLKSLPDKLKAEI	LWANKKTVDEKELLKSLPDKLKAEI	2.0	7.0	unscreened	-	4234_2:99012999-99012999 G>T_LWANKKTVDEKELLKSLPDKLKAEI
X:125298868-125298868 C>G	0.0	4234	LUNG	-	-	-	2	DCAF12L2	NM_001013628,p.R347P|ENST00000538699,p.R347P|ENST00000360028,p.R347P|uc004euk.2,p.R347P	protein_coding	uc004euk.2	nonsynonymous SNV	exon1	c.G1040C	p.R347P	RQRQQNIRPLCSREGGTGVRSLSFY	RQRQQNIRPLCSPEGGTGVRSLSFY	1.0	7.0	unscreened	-	4234_X:125298868-125298868 C>G_RQRQQNIRPLCSPEGGTGVRSLSFY
4:167656135-167656135 T>A	1.0	4234	LUNG	-	-	-	-	SPOCK3	NM_001204354,p.E324D|uc011cjt.1,p.E324D|NM_001040159,p.E413D|uc021xuf.1,p.E416D|ENST00000541637,p.E318D|uc011cjv.1,p.E318D|ENST00000511269,p.E413D|uc011cjp.2,p.E373D|ENST00000357154,p.E416D|NM_001204355,p.E320D|uc003irj.1,p.E413D|ENST00000534949,p.E320D|ENST00000421836,p.E365D|uc011cjq.1,p.E425D|ENST00000510741,p.E373D|uc011cju.1,p.E320D|ENST00000502330,p.E416D|ENST00000504953,p.E413D|uc011cjs.1,p.E365D|ENST00000535728,p.E284D|ENST00000506886,p.E416D|ENST00000357545,p.E413D|NM_016950,p.E416D|NM_001251967,p.E318D|NM_001204356,p.E373D|NM_001204352,p.E365D|uc003iri.1,p.E416D|ENST00000512681,p.E318D|NM_001204353,p.E296D|ENST00000541354,p.E296D|ENST00000511531,p.E416D|uc011cjr.1,p.E296D	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xuf.1	nonsynonymous SNV	exon11	c.A1248T	p.E416D	DEDDIMNDEDEIEDDDEDEGDDDDG	DEDDIMNDEDEIDDDDEDEGDDDDG	8.0	7.0	-	-	4234_4:167656135-167656135 T>A_DEDDIMNDEDEIDDDDEDEGDDDDG
17:54672009-54672009 G>A	0.0	4234	LUNG	-	-	-	-	NOG	NM_005450,p.R142Q|ENST00000332822,p.R142Q|uc002iup.2,p.R142Q	protein_coding	uc002iup.2	nonsynonymous SNV	exon1	c.G425A	p.R142Q	AQGKKQRLSKKLRRKLQMWLWSQTF	AQGKKQRLSKKLQRKLQMWLWSQTF	3.0	5.0	unscreened	-	4234_17:54672009-54672009 G>A_AQGKKQRLSKKLQRKLQMWLWSQTF
12:63544218-63544218 G>T	0.0	4234	LUNG	-	-	-	-	AVPR1A	uc001sro.2,p.F133L|ENST00000299178,p.F133L|NM_000706,p.F133L	protein_coding	uc001sro.2	nonsynonymous SNV	exon1	c.C399A	p.F133L	DWLCRVVKHLQVFGMFASAYMLVVM	DWLCRVVKHLQVLGMFASAYMLVVM	4.0	3.0	unscreened	-	4234_12:63544218-63544218 G>T_DWLCRVVKHLQVLGMFASAYMLVVM
4:156135182-156135182 G>C	0.0	4234	LUNG	-	-	-	-	NPY2R	uc003ior.3,p.E31Q|uc003ioq.3,p.E31Q|NM_000910,p.E31Q|ENST00000506608,p.E31Q|ENST00000329476,p.E31Q|uc021xtm.1,p.E31Q	protein_coding	uc021xtm.1	nonsynonymous SNV	exon1	c.G91C	p.E31Q	VEQYGPQTTPRGELVPDPEPELIDS	VEQYGPQTTPRGQLVPDPEPELIDS	1.0	6.0	unscreened	-	4234_4:156135182-156135182 G>C_VEQYGPQTTPRGQLVPDPEPELIDS
12:97085076-97085076 G>T	0.0	4234	LUNG	-	-	-	-	CDK17,NEDD1	ENST00000524981,p.R535S|uc021rcc.1,p.R509S	-	uc021rcc.1	nonsynonymous SNV	exon11	c.G1527T	p.R509S	SLYYIIRELHFVRQNLIVLPLLALY	SLYYIIRELHFVSQNLIVLPLLALY	1.0	3.0	unscreened	-	4234_12:97085076-97085076 G>T_SLYYIIRELHFVSQNLIVLPLLALY
11:56431869-56431869 G>T	0.0	4234	LUNG	-	-	-	-	OR5AR1	ENST00000302969,p.K236N|NM_001004730,p.K236N|uc010rjm.2,p.K236N	protein_coding	uc010rjm.2	nonsynonymous SNV	exon1	c.G708T	p.K236N	AIIRMRSAEGRLKAFSTCGSHLTGI	AIIRMRSAEGRLNAFSTCGSHLTGI	1.0	2.0	unscreened	-	4234_11:56431869-56431869 G>T_AIIRMRSAEGRLNAFSTCGSHLTGI
2:51255159-51255159 G>T	0.0	4234	LUNG	-	-	-	-	NRXN1	uc021vhi.1,p.R85S|ENST00000406859,p.R85S|NM_004801,p.R85S|ENST00000406316,p.R85S|NM_001135659,p.R85S|ENST00000405581,p.R85S|ENST00000402717,p.R85S|ENST00000401669,p.R85S|ENST00000405472,p.R85S|uc021vhk.1,p.R85S|uc021vhg.1,p.R85S|uc021vhj.1,p.R85S|ENST00000404971,p.R85S|uc021vhh.1,p.R85S	retained_intron, protein_coding, processed_transcript	uc021vhk.1	nonsynonymous SNV	exon2	c.C253A	p.R85S	EGFCDFLELILTRGGRLQLSFSIFC	EGFCDFLELILTSGGRLQLSFSIFC	3.0	5.0	unscreened	-	4234_2:51255159-51255159 G>T_EGFCDFLELILTSGGRLQLSFSIFC
12:20782908-20782908 G>A	1.0	4234	LUNG	-	-	-	-	PDE3A	NM_001244683,p.S214N|uc001reh.2,p.S536N|uc021qwa.1,p.S214N|NM_000921,p.S536N|ENST00000359062,p.S536N	retained_intron, protein_coding, processed_transcript	uc021qwa.1	nonsynonymous SNV	exon5	c.G641A	p.S214N	SPCSSPLQGTPASSLVSKISAVQFP	SPCSSPLQGTPANSLVSKISAVQFP	7.0	4.0	-	-	4234_12:20782908-20782908 G>A_SPCSSPLQGTPANSLVSKISAVQFP
2:130872525-130872525 T>A	0.0	4234	LUNG	-	-	-	-	POTEF	NM_001099771,p.I247F|uc010fmh.2,p.I247F|ENST00000357462,p.I247F|ENST00000360967,p.I247F|ENST00000361163,p.I257F|ENST00000409914,p.I247F	protein_coding	uc010fmh.2	nonsynonymous SNV	exon5	c.A739T	p.I247F	PDEYGNTTLHYAIYNEDKLMAKALL	PDEYGNTTLHYAFYNEDKLMAKALL	4.0	4.0	unscreened	-	4234_2:130872525-130872525 T>A_PDEYGNTTLHYAFYNEDKLMAKALL
4:15972704-15972704 G>T	0.0	4234	LUNG	-	-	-	-	PROM1	NM_001145851,p.P830T|uc003gos.2,p.P830T|ENST00000540805,p.P839T|uc003gor.2,p.P839T|NM_001145849,p.P839T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gos.2	nonsynonymous SNV	exon24	c.C2488A	p.P830T	VYDDVETIPMKNPSQH	VYDDVETIPMKNTSQH	2.0	7.0	unscreened	-	4234_4:15972704-15972704 G>T_VYDDVETIPMKNTSQH
X:10535181-10535181 G>C	0.0	4234	LUNG	-	-	-	-	MID1	NM_000381,p.T136S|uc004ctw.3,p.T136S|NM_001098624,p.T136S|uc004cue.1,p.T136S|NM_001193280,p.T136S|ENST00000317552,p.T136S|uc004cug.1,p.T136S|NM_033289,p.T136S|uc004cud.1,p.T136S|uc004cth.4,p.T136S|ENST00000380780,p.T136S|uc004ctv.3,p.T136S|uc004cto.2,p.T136S|uc004ctn.2,p.T136S|uc004ctj.4,p.T136S|ENST00000413894,p.T136S|uc004ctg.4,p.T136S|ENST00000380782,p.T136S|NM_001193281,p.T136S|uc010ndy.2,p.T136S|ENST00000423614,p.T136S|uc004cuf.1,p.T136S|ENST00000453318,p.T136S|ENST00000380787,p.T136S|uc004cti.4,p.T136S|uc004cte.4,p.T136S|uc004cuc.1,p.T136S|NM_033290,p.T136S|NM_001193277,p.T136S|ENST00000380785,p.T136S|uc004cub.1,p.T136S|uc004ctt.3,p.T136S|ENST00000380779,p.T136S|uc004ctm.2,p.T136S|uc004ctu.3,p.T136S|uc004cty.3,p.T136S|NM_001193278,p.T136S|uc004ctk.4,p.T136S|NM_001193279,p.T136S	protein_coding, processed_transcript	uc010ndy.2	nonsynonymous SNV	exon1	c.C407G	p.T136S	QDPAQDAVKTCVTCEVSYCDECLKA	QDPAQDAVKTCVSCEVSYCDECLKA	5.0	5.0	unscreened	-	4234_X:10535181-10535181 G>C_QDPAQDAVKTCVSCEVSYCDECLKA
7:100685471-100685471 G>A	0.0	4234	LUNG	-	-	-	-	MUC17	NM_001040105,p.E3592K|uc003uxp.1,p.E3592K|ENST00000306151,p.E3592K|ENST00000379439,p.E3592K	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.G10774A	p.E3592K	TMLLSSTYVTSSEASTPSTPSVDRS	TMLLSSTYVTSSKASTPSTPSVDRS	1.0	6.0	unscreened	-	4234_7:100685471-100685471 G>A_TMLLSSTYVTSSKASTPSTPSVDRS
2:189957098-189957098 G>C	0.0	4234	LUNG	-	-	-	-	COL5A2	ENST00000374866,p.Q169E|uc002uqk.3,p.Q169E|NM_000393,p.Q169E	retained_intron, protein_coding	uc002uqk.3	nonsynonymous SNV	exon7	c.C505G	p.Q169E	PQGIDGEPGVPGQPGAPGPPGHPSH	PQGIDGEPGVPGEPGAPGPPGHPSH	9.0	4.0	-	-	4234_2:189957098-189957098 G>C_PQGIDGEPGVPGEPGAPGPPGHPSH
3:42906854-42906854 G>A	0.0	4234	LUNG	-	-	-	-	ACKR2	uc003cmf.3,p.S287N|ENST00000273145,p.S287N|uc021wwm.1,p.S287N|uc003cme.3,p.S287N|NM_001296,p.S287N|ENST00000422265,p.S287N|ENST00000442925,p.S287N	protein_coding, processed_transcript	uc021wwm.1	nonsynonymous SNV	exon1	c.G860A	p.S287N	LLDLQVFGNCEVSQHLDYALQVTES	LLDLQVFGNCEVNQHLDYALQVTES	4.0	6.0	unscreened	-	4234_3:42906854-42906854 G>A_LLDLQVFGNCEVNQHLDYALQVTES
13:110830206-110830206 C>G	1.0	4234	LUNG	-	-	-	-	COL4A1	ENST00000375820,p.G900A|NM_001845,p.G900A|uc001vqw.4,p.G900A	protein_coding, processed_transcript	uc001vqw.4	nonsynonymous SNV	exon33	c.G2699C	p.G900A	GQPGSPGPVGAPGLPGEKGDHGFPG	GQPGSPGPVGAPALPGEKGDHGFPG	9.0	5.0	-	-	4234_13:110830206-110830206 C>G_GQPGSPGPVGAPALPGEKGDHGFPG
9:140997213-140997213 C>A	0.0	4234	LUNG	-	-	-	-	CACNA1B	uc031tfy.1,p.P1758Q|ENST00000371372,p.P1758Q|NM_001243812,p.P1758Q|uc004coi.3,p.P970Q|ENST00000277551,p.P1758Q|uc031tfz.1,p.P1758Q|ENST00000371357,p.P1757Q|NM_000718,p.P1758Q|ENST00000371355,p.P1759Q|ENST00000277549,p.P952Q|ENST00000371363,p.P1756Q	protein_coding	uc031tfz.1	nonsynonymous SNV	exon38	c.C5273A	p.P1758Q	YNDMFEMLKHMSPPLGLGKKCPARV	YNDMFEMLKHMSQPLGLGKKCPARV	1.0	4.0	unscreened	-	4234_9:140997213-140997213 C>A_YNDMFEMLKHMSQPLGLGKKCPARV
4:15972704-15972704 G>T	0.0	4234	LUNG	-	-	-	-	PROM1	uc003goq.3,p.P853T|ENST00000447510,p.P862T|uc003gop.2,p.P853T|NM_006017,p.P862T|ENST00000510224,p.P862T|NM_001145848,p.P853T|uc003goo.2,p.P862T|ENST00000508167,p.P853T|ENST00000505450,p.P853T|NM_001145847,p.P853T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003goq.3	nonsynonymous SNV	exon26	c.C2557A	p.P853T	HVYGIHNPVMTSPSQH	HVYGIHNPVMTSTSQH	2.0	7.0	unscreened	-	4234_4:15972704-15972704 G>T_HVYGIHNPVMTSTSQH
4:15972704-15972704 G>T	0.0	4234	LUNG	-	-	-	-	PROM1	NM_001145852,p.P822T|uc003gou.2,p.P822T|uc003got.2,p.P831T|ENST00000539194,p.P831T|NM_001145850,p.P831T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gou.2	nonsynonymous SNV	exon23	c.C2464A	p.P822T	YRRMDSEDVYDDPSQH	YRRMDSEDVYDDTSQH	2.0	7.0	unscreened	-	4234_4:15972704-15972704 G>T_YRRMDSEDVYDDTSQH
5:127624239-127624239 C>G	0.0	4234	LUNG	-	-	-	-	FBN2	ENST00000508053,p.E2216D|NM_001999,p.E2216D|uc003kuu.3,p.E2216D|ENST00000262464,p.E2216D	retained_intron, protein_coding, processed_transcript	uc003kuu.3	nonsynonymous SNV	exon53	c.G6648C	p.E2216D	LDYTGVRCVDTDECSIGNPCGNGTC	LDYTGVRCVDTDDCSIGNPCGNGTC	7.0	6.0	unscreened	-	4234_5:127624239-127624239 C>G_LDYTGVRCVDTDDCSIGNPCGNGTC
1:39977495-39977495 G>C	0.0	4234	LUNG	-	-	-	-	BMP8A	uc001cdi.3,p.D198H|ENST00000331593,p.D198H|NM_181809,p.D198H	protein_coding	uc001cdi.3	nonsynonymous SNV	exon3	c.G592C	p.D198H	TLRAGDEGWLVLDVTAASDCWLLKR	TLRAGDEGWLVLHVTAASDCWLLKR	4.0	1.0	unscreened	-	4234_1:39977495-39977495 G>C_TLRAGDEGWLVLHVTAASDCWLLKR
7:143042760-143042760 G>C	0.0	4234	LUNG	-	-	-	-	CLCN1	uc011ktc.1,p.A305P|NM_000083,p.A693P|uc003wcr.1,p.A693P|ENST00000343257,p.A693P	protein_coding, processed_transcript, nonsense_mediated_decay	uc011ktc.1	nonsynonymous SNV	exon16	c.G913C	p.A305P	LSELPYDGKARLAGEGLPGAPPGRP	LSELPYDGKARLPGEGLPGAPPGRP	1.0	4.0	unscreened	-	4234_7:143042760-143042760 G>C_LSELPYDGKARLPGEGLPGAPPGRP
7:4011200-4011200 G>T	0.0	4234	LUNG	-	-	-	-	SDK1	ENST00000404826,p.R606L|ENST00000389531,p.R606L|uc003smx.3,p.R606L|NM_152744,p.R606L	retained_intron, protein_coding, processed_transcript	uc003smx.3	nonsynonymous SNV	exon12	c.G1817T	p.R606L	HCGATHDPRVSLRYVWKKDNVALTP	HCGATHDPRVSLLYVWKKDNVALTP	3.0	2.0	unscreened	-	4234_7:4011200-4011200 G>T_HCGATHDPRVSLLYVWKKDNVALTP
16:13329157-13329157 T>A	0.0	4234	LUNG	-	-	-	-	SHISA9	ENST00000558583,p.L430H|NM_001145204,p.L389H|uc010uyy.2,p.L389H|ENST00000424107,p.L389H	protein_coding, processed_transcript	uc010uyy.2	nonsynonymous SNV	exon5	c.T1166A	p.L389H	SLRRQAYSNKGKLGTAETGSSDPLG	SLRRQAYSNKGKHGTAETGSSDPLG	1.0	3.0	unscreened	-	4234_16:13329157-13329157 T>A_SLRRQAYSNKGKHGTAETGSSDPLG
11:72290051-72290051 C>A	0.0	4234	LUNG	-	-	-	-	PDE2A	NM_001146209,p.G778C|ENST00000334456,p.G787C|NM_002599,p.G787C|uc010rrb.2,p.G778C|uc001osn.3,p.G531C|NM_001143839,p.G780C|uc010rrc.2,p.G787C|uc001oso.3,p.G766C|ENST00000420501,p.G166C|uc010rrd.2,p.G672C|NM_001243784,p.G766C|ENST00000444035,p.G778C|ENST00000376450,p.G531C|ENST00000540345,p.G778C|uc010rra.2,p.G780C|ENST00000418754,p.G672C|ENST00000544570,p.G780C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rrd.2	nonsynonymous SNV	exon24	c.G2014T	p.G672C	RIFKDLQKMAEVGYDRNNKQHHRLL	RIFKDLQKMAEVCYDRNNKQHHRLL	6.0	2.0	unscreened	-	4234_11:72290051-72290051 C>A_RIFKDLQKMAEVCYDRNNKQHHRLL
2:88405883-88405883 C>A	0.0	4234	LUNG	-	-	-	-	SMYD1	NM_198274,p.P341T|uc002sss.3,p.P37T|uc002ssr.3,p.P341T|ENST00000419482,p.P341T|ENST00000444564,p.P328T	protein_coding, processed_transcript	uc002sss.3	nonsynonymous SNV	exon4	c.C109A	p.P37T	VKLCRECLEKQEPVFADTNIYMLRM	VKLCRECLEKQETVFADTNIYMLRM	1.0	3.0	unscreened	-	4234_2:88405883-88405883 C>A_VKLCRECLEKQETVFADTNIYMLRM
3:120347266-120347266 G>T	0.0	4234	LUNG	-	-	-	-	HGD	uc003edv.3,p.H292Q|NM_000187,p.H433Q|uc003edw.3,p.H433Q|ENST00000283871,p.H433Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003edw.3	nonsynonymous SNV	exon14	c.C1299A	p.H433Q	ENYHKCWEPLKSHFTPNSRNPAEPN	ENYHKCWEPLKSQFTPNSRNPAEPN	5.0	5.0	unscreened	-	4234_3:120347266-120347266 G>T_ENYHKCWEPLKSQFTPNSRNPAEPN
2:155711380-155711380 C>A	0.0	4234	LUNG	-	-	-	-	KCNJ3	uc002tyv.2,p.P354Q|NM_002239,p.P354Q|ENST00000295101,p.P354Q	protein_coding, processed_transcript	uc002tyv.2	nonsynonymous SNV	exon3	c.C1061A	p.P354Q	YSQFHATFEVPTPPYSVKEQEEMLL	YSQFHATFEVPTQPYSVKEQEEMLL	3.0	3.0	unscreened	-	4234_2:155711380-155711380 C>A_YSQFHATFEVPTQPYSVKEQEEMLL
11:124005641-124005641 G>T	0.0	4234	LUNG	-	-	-	-	VWA5A	ENST00000456829,p.G420V|uc001pzu.3,p.G420V|ENST00000392748,p.G420V|uc001pzt.3,p.G420V|NM_001130142,p.G420V|NM_014622,p.G420V	retained_intron, protein_coding	uc001pzu.3	nonsynonymous SNV	exon12	c.G1259T	p.G420V	RINRQKHRCFSFGIGEGTSTSLIKG	RINRQKHRCFSFVIGEGTSTSLIKG	5.0	2.0	unscreened	-	4234_11:124005641-124005641 G>T_RINRQKHRCFSFVIGEGTSTSLIKG
3:167016195-167016195 ->T	0.0	4234	LUNG	-	-	-	-	ZBBX	NM_001199202,p.G564fs|ENST00000392764,p.G564fs|NM_024687,p.G593fs|NM_001199201,p.G593fs|uc011bpc.2,p.G593fs|ENST00000392766,p.G593fs|uc003fep.3,p.G593fs|ENST00000392767,p.G593fs|ENST00000455345,p.G593fs|ENST00000307529,p.G593fs|uc003feq.3,p.G564fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bpc.2	frameshift insertion	exon18	c.1776dupA	p.G593fs	ACRSKPITKQYQGLERFFIFDTNER	ACRSKPITKQYQRT	5.0	5.0	unscreened	-	4234_3:167016195-167016195 ->T_ACRSKPITKQYQRT
2:234975889-234975889 T>C	0.0	4234	LUNG	-	-	-	-	SPP2	ENST00000168148,p.I174T|ENST00000425558,p.I94T|uc010fyl.1,p.I94T|uc002vvk.1,p.I174T|NM_006944,p.I174T|ENST00000373368,p.I174T	protein_coding, processed_transcript	uc010fyl.1	nonsynonymous SNV	exon5	c.T281C	p.I94T	NNYLFGLISDESISEQFYDRSLGIM	NNYLFGLISDESTSEQFYDRSLGIM	1.0	6.0	unscreened	-	4234_2:234975889-234975889 T>C_NNYLFGLISDESTSEQFYDRSLGIM
1:34068119-34068119 G>A	0.0	4234	LUNG	-	-	-	-	CSMD2	uc001bxm.1,p.S2187F|NM_001281956,p.S2187F|ENST00000373381,p.S2187F|ENST00000373380,p.S1060F|NM_052896,p.S2189F|ENST00000373388,p.S286F|ENST00000241312,p.S2189F|uc001bxn.1,p.S2189F|uc001bxo.1,p.S1060F|ENST00000373377,p.S286F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxo.1	nonsynonymous SNV	exon22	c.C3179T	p.S1060F	KCEVPCGGNITSSNGTVYSPGFPSP	KCEVPCGGNITSFNGTVYSPGFPSP	3.0	3.0	unscreened	-	4234_1:34068119-34068119 G>A_KCEVPCGGNITSFNGTVYSPGFPSP
2:179459362-179459362 G>T	0.0	4234	LUNG	-	-	-	-	TTN	uc021vta.2,p.R10347S|NM_133432,p.R10347S|ENST00000359218,p.R10347S|NM_001256850,p.R17646S|NM_133378,p.R16719S|uc031rqc.1,p.R19287S|NM_133437,p.R10414S|ENST00000460472,p.R10222S|uc021vsy.2,p.R16719S|ENST00000589042,p.R19287S|ENST00000591111,p.R17646S|ENST00000342992,p.R16719S|uc021vtb.2,p.R10222S|NM_001267550,p.R19287S|uc021vsz.2,p.R10414S|uc031rqd.1,p.R17646S|NM_003319,p.R10222S|ENST00000342175,p.R10414S	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon246	c.C52936A	p.R17646S	ALVIREPITVPERPEDLEVKEVTKN	ALVIREPITVPESPEDLEVKEVTKN	2.0	3.0	unscreened	-	4234_2:179459362-179459362 G>T_ALVIREPITVPESPEDLEVKEVTKN
8:113662414-113662414 ->C	0.0	4234	LUNG	-	-	-	2	CSMD3	NM_052900,p.S953fs|ENST00000343508,p.S1017fs|uc011lhx.2,p.S953fs|ENST00000339701,p.S397fs|uc003ynt.3,p.S1017fs|NM_198123,p.S1057fs|uc003yns.3,p.S329fs|NM_198124,p.S1017fs|uc003ynu.3,p.S1057fs|ENST00000297405,p.S1057fs|ENST00000352409,p.S1057fs|ENST00000455883,p.S953fs	retained_intron, protein_coding, processed_transcript	uc011lhx.2	frameshift insertion	exon18	c.2856dupG	p.S953fs	EEPLLCEKNHWWSHPLPTCDALCGG	EEPLLCEKNHWWESSTSNL	2.0	3.0	unscreened	-	4234_8:113662414-113662414 ->C_EEPLLCEKNHWWESSTSNL
11:33053046-33053046 T>A	0.0	4234	LUNG	-	-	-	-	DEPDC7	uc001mub.3,p.L302Q|ENST00000311388,p.L293Q|NM_139160,p.L293Q|ENST00000241051,p.L302Q|uc001muc.3,p.L293Q|NM_001077242,p.L302Q	retained_intron, protein_coding	uc001muc.3	nonsynonymous SNV	exon5	c.T878A	p.L293Q	EQPDRTDLVKELLFDAIGRYYSSRE	EQPDRTDLVKELQFDAIGRYYSSRE	5.0	2.0	unscreened	-	4234_11:33053046-33053046 T>A_EQPDRTDLVKELQFDAIGRYYSSRE
8:3087741-3087741 G>T	0.0	4234	LUNG	-	-	-	-	CSMD1	ENST00000520002,p.A1390D|uc022aqr.1,p.A1389D|uc011kwj.2,p.A782D|ENST00000542608,p.A1389D|ENST00000400186,p.A1390D|uc003wqe.3,p.A546D|ENST00000537824,p.A1389D|ENST00000602723,p.A1390D|ENST00000539096,p.A1389D|NM_033225,p.A1389D|ENST00000602557,p.A1390D	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon27	c.C4166A	p.A1389D	SGFSIQFSTSIAATCNDPGMPQNGT	SGFSIQFSTSIADTCNDPGMPQNGT	2.0	6.0	unscreened	-	4234_8:3087741-3087741 G>T_SGFSIQFSTSIADTCNDPGMPQNGT
2:49190651-49190651 G>C	0.0	4234	LUNG	-	-	-	-	FSHR	uc002rwx.3,p.Q375E|NM_181446,p.Q411E|ENST00000304421,p.Q411E|uc002rww.3,p.Q437E|ENST00000541117,p.Q173E|NM_000145,p.Q437E|uc010fbn.3,p.Q411E|ENST00000346173,p.Q375E|ENST00000406846,p.Q437E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010fbn.3	nonsynonymous SNV	exon9	c.C1231G	p.Q411E	TKSQYHNYAIDWQTGAGCDAAGFFT	TKSQYHNYAIDWETGAGCDAAGFFT	1.0	5.0	unscreened	-	4234_2:49190651-49190651 G>C_TKSQYHNYAIDWETGAGCDAAGFFT
1:32221754-32221754 C>A	0.0	4234	LUNG	-	-	-	-	BAI2	ENST00000420125,p.E221D|uc010ogr.1,p.E216D|uc001btq.1,p.E216D|NM_001294336,p.E228D|uc010ogp.2,p.E216D|ENST00000533175,p.E262D|ENST00000398556,p.E231D|ENST00000398538,p.E216D|ENST00000398547,p.E216D|uc010ogq.2,p.E228D|uc001bto.3,p.E228D|ENST00000373658,p.E228D|uc001btn.3,p.E228D|ENST00000257070,p.E228D|ENST00000527361,p.E228D|ENST00000373655,p.E228D|ENST00000398542,p.E216D|NM_001294335,p.E228D	retained_intron, protein_coding, processed_transcript	uc010ogr.1	nonsynonymous SNV	exon1	c.G648T	p.E216D	CGFAQPGCSCPGEAGAGSTTTTSPG	CGFAQPGCSCPGDAGAGSTTTTSPG	5.0	7.0	unscreened	-	4234_1:32221754-32221754 C>A_CGFAQPGCSCPGDAGAGSTTTTSPG
X:118892668-118892668 C>A	0.0	4234	LUNG	-	-	-	-	SOWAHD	NM_001105576,p.T13K|uc010nql.3,p.T13K|ENST00000343905,p.T13K	protein_coding	uc010nql.3	nonsynonymous SNV	exon1	c.C38A	p.T13K	MAQLGGAANRAPTASLAPTSQSLRC	MAQLGGAANRAPKASLAPTSQSLRC	4.0	5.0	unscreened	-	4234_X:118892668-118892668 C>A_MAQLGGAANRAPKASLAPTSQSLRC
7:103163859-103163859 C>T	0.0	4234	LUNG	-	-	-	-	RELN	NM_005045,p.R2490K|ENST00000343529,p.R2490K|NM_173054,p.R2490K|uc010liz.3,p.R2490K|ENST00000424685,p.R2490K|uc022ajr.1,p.R2490K|uc022ajq.1,p.R2490K|ENST00000428762,p.R2490K	retained_intron, protein_coding, processed_transcript	uc022ajr.1	nonsynonymous SNV	exon47	c.G7469A	p.R2490K	GDGCIDMCSGHGRCIQGNCVCDEQW	GDGCIDMCSGHGKCIQGNCVCDEQW	1.0	6.0	unscreened	-	4234_7:103163859-103163859 C>T_GDGCIDMCSGHGKCIQGNCVCDEQW
20:62843457-62843457 G>T	0.0	4234	LUNG	-	-	-	-	MYT1	uc002yij.3,p.G127C|uc002yih.3,p.G197C|ENST00000360149,p.G197C|uc002yii.3,p.G495C|ENST00000536311,p.G495C|NM_004535,p.G495C|ENST00000328439,p.G495C	protein_coding	uc002yij.3	nonsynonymous SNV	exon3	c.G379T	p.G127C	VLKCPTPGCTGQGHVNSNRNTHRSL	VLKCPTPGCTGQCHVNSNRNTHRSL	1.0	5.0	unscreened	-	4234_20:62843457-62843457 G>T_VLKCPTPGCTGQCHVNSNRNTHRSL
X:107448903-107448903 G>T	0.0	4234	LUNG	-	-	-	-	COL4A6	NM_001847,p.P212H|ENST00000545689,p.P211H|NM_001287759,p.P211H|ENST00000334504,p.P211H|NM_001287758,p.P211H|uc010npk.3,p.P211H|ENST00000538570,p.P211H|NM_001287760,p.P211H|ENST00000372216,p.P212H|NM_033641,p.P211H|uc004enw.4,p.P212H|uc011msn.2,p.P211H|uc004env.4,p.P211H	retained_intron, protein_coding, processed_transcript	uc011msn.2	nonsynonymous SNV	exon10	c.C632A	p.P211H	PPGLQGPPGPPGPLGPDGNMGLGFQ	PPGLQGPPGPPGHLGPDGNMGLGFQ	6.0	1.0	unscreened	-	4234_X:107448903-107448903 G>T_PPGLQGPPGPPGHLGPDGNMGLGFQ
11:89608870-89608870 C>A	0.0	4234	LUNG	-	-	-	-	TRIM64B	uc021qoo.1,p.D106Y|ENST00000329862,p.D106Y|NM_001164397,p.D106Y	protein_coding	uc021qoo.1	nonsynonymous SNV	exon1	c.G316T	p.D106Y	LHEETKELFCEADKRLLCGPCSESP	LHEETKELFCEAYKRLLCGPCSESP	1.0	3.0	unscreened	-	4234_11:89608870-89608870 C>A_LHEETKELFCEAYKRLLCGPCSESP
1:166927312-166927312 C>A	0.0	4234	LUNG	-	-	-	-	ILDR2	ENST00000529387,p.V25L|uc001gdx.2,p.V25L|ENST00000529071,p.V25L|ENST00000526687,p.V25L|ENST00000525740,p.V25L|NM_199351,p.V25L|ENST00000469934,p.V25L|ENST00000271417,p.V25L|ENST00000528703,p.V25L	protein_coding	uc001gdx.2	nonsynonymous SNV	exon2	c.G73T	p.V25L	WLTAMVEGLQVTVPDKKKVAMLFQP	WLTAMVEGLQVTLPDKKKVAMLFQP	1.0	2.0	unscreened	-	4234_1:166927312-166927312 C>A_WLTAMVEGLQVTLPDKKKVAMLFQP
1:150935466-150935466 C>A	1.0	4234	LUNG	-	-	-	-	SETDB1	ENST00000368969,p.S1103Y|uc001evv.2,p.S1103Y|NM_001145415,p.S1103Y|NM_012432,p.S1103Y|uc001evu.2,p.S1103Y|uc009wmg.2,p.S1103Y|ENST00000271640,p.S1103Y|ENST00000498193,p.S1103Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009wmg.2	nonsynonymous SNV	exon19	c.C3308A	p.S1103Y	SAQSNPDDVLTLSSSTESEGESGTS	SAQSNPDDVLTLYSSTESEGESGTS	8.0	2.0	-	-	4234_1:150935466-150935466 C>A_SAQSNPDDVLTLYSSTESEGESGTS
8:143694928-143694928 C>A	0.0	4234	LUNG	-	-	-	-	ARC	ENST00000356613,p.E235D|uc022bca.1,p.E235D|NM_015193,p.E235D|uc003ywn.2,p.E235D	protein_coding, processed_transcript	uc022bca.1	nonsynonymous SNV	exon1	c.G705T	p.E235D	HLEEYLRQVGGSEEYWLSQIQNHMN	HLEEYLRQVGGSDEYWLSQIQNHMN	1.0	4.0	unscreened	-	4234_8:143694928-143694928 C>A_HLEEYLRQVGGSDEYWLSQIQNHMN
15:48518744-48518744 G>T	0.0	4234	LUNG	-	-	-	-	SLC12A1	ENST00000559641,p.A47S|uc010uex.2,p.A234S|ENST00000558405,p.A234S|ENST00000380993,p.A234S|ENST00000330289,p.A234S|uc001zwn.4,p.A234S|NM_000338,p.A234S|uc010uew.1,p.A40S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uex.2	nonsynonymous SNV	exon4	c.G700T	p.A234S	VTSITGLSTSAIATNGFVRGGGAYY	VTSITGLSTSAISTNGFVRGGGAYY	1.0	2.0	unscreened	-	4234_15:48518744-48518744 G>T_VTSITGLSTSAISTNGFVRGGGAYY
5:2748886-2748886 C>A	0.0	4234	LUNG	-	-	-	-	IRX2	NM_001134222,p.Q312H|NM_033267,p.Q312H|ENST00000382611,p.Q312H|ENST00000302057,p.Q312H|uc003jdb.3,p.Q312H|uc003jda.3,p.Q312H	protein_coding	uc003jdb.3	nonsynonymous SNV	exon3	c.G936T	p.Q312H	PEAAPRGGRKTPQGSRTSPGAPPPA	PEAAPRGGRKTPHGSRTSPGAPPPA	3.0	2.0	unscreened	-	4234_5:2748886-2748886 C>A_PEAAPRGGRKTPHGSRTSPGAPPPA
2:119604574-119604574 G>A	0.0	4234	LUNG	-	-	-	-	EN1	uc002tlm.3,p.P57L|ENST00000295206,p.P57L|NM_001426,p.P57L	protein_coding, processed_transcript	uc002tlm.3	nonsynonymous SNV	exon1	c.C170T	p.P57L	GDSVPVSPQPAPPSPPAAPCLPPLA	GDSVPVSPQPAPLSPPAAPCLPPLA	5.0	2.0	unscreened	-	4234_2:119604574-119604574 G>A_GDSVPVSPQPAPLSPPAAPCLPPLA
7:148802451-148802451 C>G	0.0	4234	LUNG	-	-	-	-	ZNF425	uc003wfj.3,p.R171P|NM_001001661,p.R171P|ENST00000378061,p.R171P	retained_intron, protein_coding, processed_transcript	uc003wfj.3	nonsynonymous SNV	exon4	c.G512C	p.R171P	SITAYDPDKKDLRHKPRETPGRLEI	SITAYDPDKKDLPHKPRETPGRLEI	3.0	5.0	unscreened	-	4234_7:148802451-148802451 C>G_SITAYDPDKKDLPHKPRETPGRLEI
X:103041652-103041652 C>-	0.0	4234	LUNG	-	-	-	-	PLP1	uc010now.1,p.D154fs	retained_intron, protein_coding, processed_transcript	uc010now.1	frameshift deletion	exon3	c.462delC	p.D154fs	VCHCLGKWLGHPDKVIILRILWQ	VCHCLGKWLGHPER	2.0	4.0	unscreened	-	4234_X:103041652-103041652 C>-_VCHCLGKWLGHPER
X:106841001-106841001 ->T	0.0	4234	LUNG	-	-	-	-	FRMPD3	NM_032428,p.P664fs|ENST00000439554,p.P612fs|ENST00000276185,p.P664fs	protein_coding, processed_transcript	NM_032428	frameshift insertion	exon15	c.1992dupT	p.P664fs	LQEQLGPRKGGKPGSSRDNIVDLMS	LQEQLGPRKGGKPWLLS	1.0	2.0	unscreened	-	4234_X:106841001-106841001 ->T_LQEQLGPRKGGKPWLLS
16:27414492-27414492 A>T	0.0	4234	LUNG	-	-	-	1	IL21R	uc002dor.2,p.M1L|NM_181079,p.M1L	retained_intron, protein_coding, processed_transcript	uc002dor.2	nonsynonymous SNV	exon2	c.A1T	p.M1L	MSCRCIFLMKHGE	LSCRCIFLMKHGE	7.0	1.0	unscreened	-	4234_16:27414492-27414492 A>T_LSCRCIFLMKHGE
15:42977054-42977054 C>T	0.0	4234	LUNG	-	-	-	-	STARD9	uc010udj.2,p.S1093L|NM_020759,p.S1093L|ENST00000290607,p.S1093L	retained_intron, protein_coding, nonsense_mediated_decay	uc010udj.2	nonsynonymous SNV	exon23	c.C3278T	p.S1093L	VPLTDFSPVMDHSREKDNDLSDTDS	VPLTDFSPVMDHLREKDNDLSDTDS	4.0	3.0	unscreened	-	4234_15:42977054-42977054 C>T_VPLTDFSPVMDHLREKDNDLSDTDS
15:101592023-101592023 G>A	0.0	4234	LUNG	-	-	-	-	LRRK1	NM_024652,p.E1183K|ENST00000388948,p.E1183K|ENST00000284395,p.E1180K|uc002bwr.3,p.E1183K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bwr.3	nonsynonymous SNV	exon24	c.G3547A	p.E1183K	AWAQHTDPSEKSEDVQYFDMEDCVL	AWAQHTDPSEKSKDVQYFDMEDCVL	6.0	3.0	unscreened	-	4234_15:101592023-101592023 G>A_AWAQHTDPSEKSKDVQYFDMEDCVL
X:138643911-138643911 G>-	0.0	4234	LUNG	-	-	-	-	F9	uc004fas.1,p.W356fs|ENST00000218099,p.W356fs|NM_000133,p.W356fs|uc004fat.1,p.W318fs|ENST00000394090,p.W318fs	protein_coding, processed_transcript	uc004fat.1	frameshift deletion	exon7	c.953delG	p.W318fs	IFLKFGSGYVSGWGRVFHKGRSALVL	IFLKFGSGYVSGWEESSTKGDQL	1.0	2.0	unscreened	-	4234_X:138643911-138643911 G>-_IFLKFGSGYVSGWEESSTKGDQL
1:209782342-209782342 C>A	0.0	4234	LUNG	-	-	-	-	CAMK1G	ENST00000423146,p.H193N	protein_coding, processed_transcript	ENST00000423146	nonsynonymous SNV	exon7	c.C577A	p.H193N	GTPGYVGSVDTPHSMKKRSLSFSRR	GTPGYVGSVDTPNSMKKRSLSFSRR	4.0	1.0	unscreened	-	4234_1:209782342-209782342 C>A_GTPGYVGSVDTPNSMKKRSLSFSRR
18:10704625-10704625 C>T	0.0	4234	LUNG	-	-	-	-	PIEZO2	ENST00000302079,p.E1896K|uc002kos.2,p.E1896K|NM_022068,p.E1896K|ENST00000503781,p.E1896K|ENST00000580640,p.E1921K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kos.2	nonsynonymous SNV	exon38	c.G5686A	p.E1896K	LLKKMFHDDELEESEKFYVGQPRFL	LLKKMFHDDELEKSEKFYVGQPRFL	3.0	2.0	unscreened	-	4234_18:10704625-10704625 C>T_LLKKMFHDDELEKSEKFYVGQPRFL
15:44967763-44967763 G>A	0.0	4234	LUNG	-	-	-	-	PATL2	uc010uej.2,p.P48L|NM_001145112,p.P48L|ENST00000434130,p.P48L|ENST00000560775,p.P48L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uej.2	nonsynonymous SNV	exon3	c.C143T	p.P48L	EEEEEEDEEDLDPDLDPDLEEEEND	EEEEEEDEEDLDLDLDPDLEEEEND	6.0	2.0	unscreened	-	4234_15:44967763-44967763 G>A_EEEEEEDEEDLDLDLDPDLEEEEND
X:149013049-149013049 G>T	0.0	4234	LUNG	-	-	-	-	MAGEA8	uc022cgo.1,p.M1I|uc004fdw.2,p.M1I|ENST00000542674,p.M1I|NM_001166401,p.M1I|NM_005364,p.M1I|NM_001166400,p.M1I|uc022cgq.1,p.M1I|uc022cgp.1,p.M1I|ENST00000535454,p.M1I|ENST00000286482,p.M1I	protein_coding, processed_transcript	uc022cgq.1	nonsynonymous SNV	exon1	c.G3T	p.M1I	MLLGQKSQRYKAE	ILLGQKSQRYKAE	1.0	4.0	unscreened	-	4234_X:149013049-149013049 G>T_ILLGQKSQRYKAE
12:11420317-11420317 G>C	0.0	4234	LUNG	-	-	-	-	PRB3	ENST00000538488,p.Q247E|NM_006249,p.Q247E|uc001qzs.3,p.Q247E|ENST00000381842,p.Q247E	retained_intron, protein_coding, processed_transcript, polymorphic_pseudogene	uc001qzs.3	nonsynonymous SNV	exon4	c.C739G	p.Q247E	KPQGPPPHPGKPQGPPPQEGNKPQR	KPQGPPPHPGKPEGPPPQEGNKPQR	3.0	5.0	unscreened	-	4234_12:11420317-11420317 G>C_KPQGPPPHPGKPEGPPPQEGNKPQR
10:35929639-35929639 C>G	0.0	4234	LUNG	-	-	-	-	FZD8	ENST00000374694,p.S240T|NM_031866,p.S240T|uc001iyz.1,p.S240T	protein_coding	uc001iyz.1	nonsynonymous SNV	exon1	c.G719C	p.S240T	CEPGCQCRAPMVSVSSERHPLYNRV	CEPGCQCRAPMVTVSSERHPLYNRV	4.0	1.0	unscreened	-	4234_10:35929639-35929639 C>G_CEPGCQCRAPMVTVSSERHPLYNRV
11:123513328-123513328 G>T	0.0	4234	LUNG	-	-	-	-	SCN3B	ENST00000299333,p.R91S|uc001pzb.1,p.R91S|NM_018400,p.R91S|uc001pza.1,p.R91S|NM_001040151,p.R91S|ENST00000527836,p.R91S|ENST00000530277,p.R91S|ENST00000392770,p.R91S	retained_intron, protein_coding	uc001pzb.1	nonsynonymous SNV	exon3	c.C271A	p.R91S	NGHQEVESPFQGRLQWNGSKDLQDV	NGHQEVESPFQGSLQWNGSKDLQDV	4.0	1.0	unscreened	-	4234_11:123513328-123513328 G>T_NGHQEVESPFQGSLQWNGSKDLQDV
1:171162526-171162526 C>A	0.0	4234	LUNG	-	-	-	-	FMO2	uc001ghk.1,p.T62N|ENST00000441535,p.T62N|ENST00000209929,p.T62N	retained_intron, protein_coding, processed_transcript	uc001ghk.1	nonsynonymous SNV	exon3	c.C185A	p.T62N	GRASIYQSVVTNTSKEMSCFSDFPM	GRASIYQSVVTNNSKEMSCFSDFPM	5.0	4.0	unscreened	-	4234_1:171162526-171162526 C>A_GRASIYQSVVTNNSKEMSCFSDFPM
X:84362591-84362591 T>A	0.0	4234	LUNG	-	-	-	-	SATL1	ENST00000332921,p.S275C|uc004een.3,p.S462C|NM_001012980,p.S462C|ENST00000509231,p.S462C|ENST00000395409,p.S275C	protein_coding	uc004een.3	nonsynonymous SNV	exon1	c.A1384T	p.S462C	VPSQLGMRQPGTSQSSKNQTGMSHP	VPSQLGMRQPGTCQSSKNQTGMSHP	1.0	1.0	unscreened	-	4234_X:84362591-84362591 T>A_VPSQLGMRQPGTCQSSKNQTGMSHP
18:7013863-7013863 T>C	0.0	4234	LUNG	-	-	-	-	LAMA1	uc010wzj.2,p.E581G|NM_005559,p.E1105G|ENST00000389658,p.E1105G|uc002knm.3,p.E1105G	retained_intron, protein_coding	uc010wzj.2	nonsynonymous SNV	exon22	c.A1742G	p.E581G	DLRGTSGDACNLEQGLCGCVEETGA	DLRGTSGDACNLGQGLCGCVEETGA	4.0	1.0	unscreened	-	4234_18:7013863-7013863 T>C_DLRGTSGDACNLGQGLCGCVEETGA
17:29203440-29203440 C>A	0.0	4234	LUNG	-	-	-	-	ATAD5	uc002hfs.1,p.P1219H|NM_024857,p.P1219H|ENST00000321990,p.P1219H	retained_intron, protein_coding, non_stop_decay	uc002hfs.1	nonsynonymous SNV	exon15	c.C3656A	p.P1219H	SPKKVVTSPRKVPPPSPKSSGPKRA	SPKKVVTSPRKVHPPSPKSSGPKRA	5.0	2.0	unscreened	-	4234_17:29203440-29203440 C>A_SPKKVVTSPRKVHPPSPKSSGPKRA
15:68120040-68120040 G>T	0.0	4234	LUNG	-	-	-	-	SKOR1	NM_001258024,p.G565V|ENST00000554240,p.G586V|ENST00000380035,p.G625V|uc031qsn.1,p.G565V|ENST00000389002,p.G581V|ENST00000341418,p.G565V|ENST00000554054,p.G597V	protein_coding	uc031qsn.1	nonsynonymous SNV	exon7	c.G1694T	p.G565V	REAYGAGPARGPGPGAGSGGYVSPD	REAYGAGPARGPVPGAGSGGYVSPD	2.0	3.0	unscreened	-	4234_15:68120040-68120040 G>T_REAYGAGPARGPVPGAGSGGYVSPD
17:7832618-7832618 C>A	0.0	4234	LUNG	-	-	-	-	KCNAB3	ENST00000570852,p.G46C|uc002gjm.2,p.G46C|NM_004732,p.G46C|ENST00000303790,p.G46C	retained_intron, protein_coding, nonsense_mediated_decay	uc002gjm.2	nonsynonymous SNV	exon1	c.G136T	p.G46C	GPAGGGHGNPPGGGGSGPKARAALV	GPAGGGHGNPPGCGGSGPKARAALV	4.0	2.0	unscreened	-	4234_17:7832618-7832618 C>A_GPAGGGHGNPPGCGGSGPKARAALV
11:128786464-128786464 G>T	0.0	4234	LUNG	-	-	-	1	KCNJ5	uc001qew.3,p.E366D|ENST00000533599,p.E366D|uc001qet.3,p.E366D|ENST00000529694,p.E366D|ENST00000338350,p.E366D|uc009zck.3,p.E366D|NM_000890,p.E366D	protein_coding	uc009zck.3	nonsynonymous SNV	exon4	c.G1098T	p.E366D	TYETNTPSCCAKELAEMKREGRLLQ	TYETNTPSCCAKDLAEMKREGRLLQ	4.0	2.0	unscreened	-	4234_11:128786464-128786464 G>T_TYETNTPSCCAKDLAEMKREGRLLQ
15:74032511-74032511 A>T	0.0	4234	LUNG	-	-	-	-	C15orf59	ENST00000379822,p.V210E|ENST00000569673,p.V210E|uc002avy.3,p.V210E|NM_001039614,p.V210E	protein_coding, processed_transcript	uc002avy.3	nonsynonymous SNV	exon2	c.T629A	p.V210E	CCDDEEGDGEQEVEEEEVGLPPEPA	CCDDEEGDGEQEEEEEEVGLPPEPA	3.0	3.0	unscreened	-	4234_15:74032511-74032511 A>T_CCDDEEGDGEQEEEEEEVGLPPEPA
1:190234113-190234113 G>T	0.0	4234	LUNG	-	-	-	-	BRINP3	ENST00000367462,p.T167N|uc001gse.1,p.T167N|NM_199051,p.T167N|uc010pot.1,p.T65N|ENST00000534846,p.T65N	protein_coding, processed_transcript	uc010pot.1	nonsynonymous SNV	exon3	c.C194A	p.T65N	KLSKRAEGSDSTTNSSSVTLETLHQ	KLSKRAEGSDSTNNSSSVTLETLHQ	5.0	1.0	unscreened	-	4234_1:190234113-190234113 G>T_KLSKRAEGSDSTNNSSSVTLETLHQ
8:86574520-86574520 C>T	0.0	4234	LUNG	-	-	-	-	REXO1L2P	ENST00000379010,p.G403R|uc022axf.1,p.G403R	protein_coding	uc022axf.1	nonsynonymous SNV	exon1	c.G1207A	p.G403R	ERPGGAVLFTGQGKGPGDSSCRVCC	ERPGGAVLFTGQRKGPGDSSCRVCC	2.0	1.0	unscreened	-	4234_8:86574520-86574520 C>T_ERPGGAVLFTGQRKGPGDSSCRVCC
20:10273585-10273585 G>T	0.0	4234	LUNG	-	-	-	-	SNAP25	NM_003081,p.E73D|ENST00000304886,p.E73D|uc010gca.2,p.E73D|uc002wnr.2,p.E73D	protein_coding, processed_transcript	uc010gca.2	nonsynonymous SNV	exon7	c.G219T	p.E73D	EEGMNHINQDMKEAEKNLKDLGKCC	EEGMNHINQDMKDAEKNLKDLGKCC	1.0	2.0	unscreened	-	4234_20:10273585-10273585 G>T_EEGMNHINQDMKDAEKNLKDLGKCC
11:55890531-55890531 T>A	0.0	4234	LUNG	-	-	-	-	OR8H3	NM_001005201,p.I228N|uc001nii.1,p.I228N|ENST00000313472,p.I228N	protein_coding	uc001nii.1	nonsynonymous SNV	exon1	c.T683A	p.I228N	ASYVSILSTILKINSTSGKQKAFST	ASYVSILSTILKNNSTSGKQKAFST	1.0	2.0	unscreened	-	4234_11:55890531-55890531 T>A_ASYVSILSTILKNNSTSGKQKAFST
6:167728900-167728900 T>C	0.0	4234	LUNG	-	-	ID=COSM140578;OCCURENCE=1(skin),1(lung)	-	UNC93A	uc003qvq.3,p.V445A|NM_001143947,p.V403A|ENST00000230256,p.V445A|ENST00000366829,p.V403A|uc003qvr.3,p.V403A|NM_018974,p.V445A	retained_intron, protein_coding, processed_transcript	uc003qvr.3	nonsynonymous SNV	exon7	c.T1208C	p.V403A	SKNPIRPHAPGQVNQAEDEEIQTKM	SKNPIRPHAPGQANQAEDEEIQTKM	1.0	1.0	unscreened	-	4234_6:167728900-167728900 T>C_SKNPIRPHAPGQANQAEDEEIQTKM
19:31769232-31769232 G>C	0.0	4234	LUNG	-	-	-	-	TSHZ3	ENST00000240587,p.D489E|NM_020856,p.D489E|uc002nsy.4,p.D489E	protein_coding, processed_transcript	uc002nsy.4	nonsynonymous SNV	exon2	c.C1467G	p.D489E	EKAVTDEKPKQKDKPGEEEEKCDIS	EKAVTDEKPKQKEKPGEEEEKCDIS	6.0	2.0	unscreened	-	4234_19:31769232-31769232 G>C_EKAVTDEKPKQKEKPGEEEEKCDIS
11:108398875-108398875 C>A	0.0	4234	LUNG	-	-	-	-	EXPH5	ENST00000525344,p.R153S|ENST00000265843,p.R160S|uc001pkk.3,p.R160S|ENST00000428840,p.R84S|ENST00000526312,p.R84S|NM_015065,p.R160S	protein_coding, processed_transcript	uc001pkk.3	nonsynonymous SNV	exon4	c.G480T	p.R160S	GCDGHAGPPMPVRGAAVQAKIYNSP	GCDGHAGPPMPVSGAAVQAKIYNSP	5.0	1.0	unscreened	-	4234_11:108398875-108398875 C>A_GCDGHAGPPMPVSGAAVQAKIYNSP
17:73758832-73758832 G>A	0.0	4235	RECTAL	-	-	-	-	GALK1	NM_000154,p.A249V|ENST00000588479,p.A249V|ENST00000225614,p.A249V|ENST00000592997,p.A41V|uc002jpk.3,p.A249V|ENST00000437911,p.A279V	retained_intron, protein_coding, nonsense_mediated_decay	uc002jpk.3	nonsynonymous SNV	exon5	c.C746T	p.A249V	PVRRRQCEEVARALGKESLREVQLE	PVRRRQCEEVARVLGKESLREVQLE	8.0	9.0	CD8	-	4235_17:73758832-73758832 G>A_PVRRRQCEEVARVLGKESLREVQLE
12:113405906-113405906 T>C	0.0	4235	RECTAL	-	-	-	-	OAS3	NM_006187,p.Y1011H|ENST00000228928,p.Y1011H|uc001tug.3,p.Y1011H	retained_intron, protein_coding, processed_transcript	uc001tug.3	nonsynonymous SNV	exon14	c.T3031C	p.Y1011H	LELVTQYRQLCIYWTINYNAKDKTV	LELVTQYRQLCIHWTINYNAKDKTV	8.0	5.0	-	-	4235_12:113405906-113405906 T>C_LELVTQYRQLCIHWTINYNAKDKTV
10:81838836-81838836 A>G	0.0	4235	RECTAL	-	-	-	-	TMEM254	uc010qlw.3,p.K19E|NM_001270368,p.K19E|NM_001270367,p.K19E|uc010qlv.3,p.K19E|uc031pwg.1,p.K19E|NM_001270369,p.K19E	protein_coding, processed_transcript	uc031pwg.1	nonsynonymous SNV	exon1	c.A55G	p.K19E	GELPANSVSGFFKRMVKSEASNAAT	GELPANSVSGFFERMVKSEASNAAT	6.0	3.0	-	-	4235_10:81838836-81838836 A>G_GELPANSVSGFFERMVKSEASNAAT
1:230928653-230928653 C>T	0.0	4235	RECTAL	-	-	-	-	CAPN9	ENST00000271971,p.R617W|uc009xfg.1,p.R554W|NM_016452,p.R591W|uc001htz.1,p.R617W|ENST00000366666,p.R554W|ENST00000354537,p.R591W|NM_006615,p.R617W|uc001hua.1,p.R591W	protein_coding, processed_transcript	uc009xfg.1	nonsynonymous SNV	exon15	c.C1660T	p.R554W	ADKSGTMSTYELRTALKAAGFQLSS	ADKSGTMSTYELWTALKAAGFQLSS	6.0	8.0	-	-	4235_1:230928653-230928653 C>T_ADKSGTMSTYELWTALKAAGFQLSS
17:26708580-26708580 T>G	0.0	4235	RECTAL	-	-	-	-	SARM1	ENST00000457710,p.L243V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000457710	nonsynonymous SNV	exon2	c.T727G	p.L243V	LLSLHACLAVAVLATNKEVEREVER	LLSLHACLAVAVVATNKEVEREVER	8.0	8.0	unscreened	-	4235_17:26708580-26708580 T>G_LLSLHACLAVAVVATNKEVEREVER
9:34649485-34649485 G>A	0.0	4235	RECTAL	-	-	-	-	GALT	NM_001258332,p.R219H|ENST00000450095,p.R219H|uc003zve.4,p.R328H|NM_000155,p.R328H|ENST00000378842,p.R328H|uc003zvf.4,p.R219H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zvf.4	nonsynonymous SNV	exon8	c.G656A	p.R219H	WQLHAHYYPPLLRSATVRKFMVGYE	WQLHAHYYPPLLHSATVRKFMVGYE	10.0	6.0	-	-	4235_9:34649485-34649485 G>A_WQLHAHYYPPLLHSATVRKFMVGYE
12:109605753-109605753 G>A	0.0	4235	RECTAL	-	-	-	-	ACACB	ENST00000377854,p.R280H|NM_001093,p.R280H|uc001tob.3,p.R280H|ENST00000377848,p.R280H|uc001toc.3,p.R280H|ENST00000544726,p.R78H|ENST00000338432,p.R280H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001toc.3	nonsynonymous SNV	exon3	c.G839A	p.R280H	NGIAAVKCMRSIRRWAYEMFRNERA	NGIAAVKCMRSIHRWAYEMFRNERA	8.0	10.0	-	-	4235_12:109605753-109605753 G>A_NGIAAVKCMRSIHRWAYEMFRNERA
16:22335675-22335675 A>C	0.0	4235	RECTAL	-	-	-	-	POLR3E	uc002dkk.4,p.M357L|uc002dkl.4,p.M357L|ENST00000359210,p.M357L|uc010vbr.3,p.M357L|uc010vbt.3,p.M301L|NM_001258035,p.M321L|NM_001258036,p.M357L|ENST00000299853,p.M357L|uc010vbs.3,p.M321L|ENST00000564209,p.M357L|NM_018119,p.M357L|NM_001258034,p.M321L|uc002dkj.2,p.M357L|NM_001258033,p.M357L|uc002dkm.4,p.M321L|ENST00000418581,p.M321L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vbt.3	nonsynonymous SNV	exon15	c.A901C	p.M301L	PAEVLCRGRDFVMWKFTQSRWVVRK	PAEVLCRGRDFVLWKFTQSRWVVRK	10.0	10.0	-	-	4235_16:22335675-22335675 A>C_PAEVLCRGRDFVLWKFTQSRWVVRK
3:50131208-50131208 G>T	0.0	4235	RECTAL	-	-	-	-	RBM5	ENST00000395174,p.V20L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000395174	nonsynonymous SNV	exon1	c.G58T	p.V20L	TVTDPKMATIQMVTMVSTTIGMTSV	TVTDPKMATIQMLTMVSTTIGMTSV	10.0	1.0	unscreened	-	4235_3:50131208-50131208 G>T_TVTDPKMATIQMLTMVSTTIGMTSV
7:91622281-91622281 A>C	0.0	4235	RECTAL	-	-	-	2	AKAP9	uc003ulg.3,p.E163A|uc003ulf.3,p.E163A|uc003uld.4,p.E163A|NM_147185,p.E163A|ENST00000358100,p.E175A|ENST00000394564,p.E163A|NM_005751,p.E163A|ENST00000359028,p.E175A|ENST00000438114,p.E114A|uc003ule.2,p.E175A|ENST00000356239,p.E163A	retained_intron, protein_coding, processed_transcript	uc003ulg.3	nonsynonymous SNV	exon5	c.A488C	p.E163A	QDSPTHLEMMESELAGKQHEIEELN	QDSPTHLEMMESALAGKQHEIEELN	10.0	1.0	unscreened	-	4235_7:91622281-91622281 A>C_QDSPTHLEMMESALAGKQHEIEELN
10:73551035-73551035 C>T	0.0	4235	RECTAL	-	-	-	-	CDH23	ENST00000224721,p.R2071W|NM_022124,p.R2066W	protein_coding, processed_transcript	NM_022124	nonsynonymous SNV	exon45	c.C6196T	p.R2066W	HLLITILDDNDNRPTFSPATLTVHL	HLLITILDDNDNWPTFSPATLTVHL	5.0	4.0	-	-	4235_10:73551035-73551035 C>T_HLLITILDDNDNWPTFSPATLTVHL
17:78811777-78811777 G>A	0.0	4235	RECTAL	-	-	-	-	RPTOR	uc010wuf.1,p.E213K|NM_001163034,p.E398K|ENST00000306801,p.E398K|ENST00000544334,p.E398K|NM_020761,p.E398K|uc002jyt.1,p.E398K|uc010wug.1,p.E398K|ENST00000537330,p.E213K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wug.1	nonsynonymous SNV	exon10	c.G1192A	p.E398K	VDICLSQLPTIIEEGTAFRHSPFFA	VDICLSQLPTIIKEGTAFRHSPFFA	8.0	7.0	-	-	4235_17:78811777-78811777 G>A_VDICLSQLPTIIKEGTAFRHSPFFA
11:66102705-66102705 G>A	0.0	4235	RECTAL	-	-	-	-	RIN1	uc010roz.1,p.L84F|ENST00000424433,p.L84F|NM_004292,p.L189F|ENST00000530056,p.L84F|ENST00000311320,p.L189F|uc010rpa.1,p.L84F|uc001ohn.1,p.L189F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rpa.1	nonsynonymous SNV	exon5	c.C250T	p.L84F	ISHLGIEFWSSSLNIKAQRGPAGGP	ISHLGIEFWSSSFNIKAQRGPAGGP	6.0	6.0	-	-	4235_11:66102705-66102705 G>A_ISHLGIEFWSSSFNIKAQRGPAGGP
2:206610591-206610591 A>C	0.0	4235	RECTAL	-	-	-	-	NRP2	ENST00000412873,p.E588A|uc002vax.3,p.E588A|ENST00000357785,p.E588A|ENST00000357118,p.E588A|ENST00000540178,p.E588A|uc002vaw.3,p.E588A|NM_201267,p.E588A|NM_201279,p.E588A|NM_201266,p.E588A|ENST00000540841,p.E588A|ENST00000360409,p.E588A|uc002vay.3,p.E588A|uc002vav.3,p.E588A|NM_018534,p.E588A|NM_003872,p.E588A|uc002vau.3,p.E588A|ENST00000272849,p.E588A	retained_intron, protein_coding, processed_transcript	uc002vay.3	nonsynonymous SNV	exon10	c.A1763C	p.E588A	ERWSPAGIGMRLEVLGCDWTDSKPT	ERWSPAGIGMRLAVLGCDWTDSKPT	8.0	1.0	-	-	4235_2:206610591-206610591 A>C_ERWSPAGIGMRLAVLGCDWTDSKPT
11:27390025-27390025 C>T	0.0	4235	RECTAL	-	-	-	-	LGR4	uc001mrj.4,p.V749I|ENST00000389858,p.V725I|NM_018490,p.V749I|ENST00000379214,p.V749I|uc001mrk.4,p.V725I	retained_intron, protein_coding, processed_transcript	uc001mrk.4	nonsynonymous SNV	exon17	c.G2173A	p.V725I	LSENSQSSMIKHVAWLIFTNCIFFC	LSENSQSSMIKHIAWLIFTNCIFFC	7.0	8.0	-	-	4235_11:27390025-27390025 C>T_LSENSQSSMIKHIAWLIFTNCIFFC
1:46073697-46073697 C>A	0.0	4235	RECTAL	-	rs200497808	-	-	NASP	ENST00000537798,p.P308T|ENST00000350030,p.P372T|ENST00000402363,p.P374T|uc010olr.2,p.P308T|uc010olq.2,p.P335T|NM_002482,p.P372T|uc001coi.2,p.P372T|uc021omz.1,p.P374T|uc001cok.2,p.P255T|NM_001195193,p.P308T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021omz.1	nonsynonymous SNV	exon7	c.C1120A	p.P374T	GSEVSEKPGQEAPVLPKDGAVNGPS	GSEVSEKPGQEATVLPKDGAVNGPS	10.0	1.0	unscreened	-	4235_1:46073697-46073697 C>A_GSEVSEKPGQEATVLPKDGAVNGPS
1:114976275-114976277 TTC>-	0.0	4235	RECTAL	-	-	ID=COSM258629;OCCURENCE=1(large_intestine)	1	TRIM33	NM_015906,p.334_335del|ENST00000358465,p.334_335del|ENST00000369543,p.334_335del|NM_033020,p.334_335del|uc001eex.3,p.334_335del|uc001eew.3,p.334_335del	protein_coding, processed_transcript	uc001eex.3	nonframeshift deletion	exon5	c.1002_1004del	p.334_335del	AIENLLAKLLEKKNYVHFAATQVQN	AIENLLAKLLEKNYVHFAATQVQNR	9.0	3.0	unscreened	-	4235_1:114976275-114976277 TTC>-_AIENLLAKLLEKNYVHFAATQVQNR
2:148653983-148653983 C>T	0.0	4235	RECTAL	-	-	ID=COSM1399821;OCCURENCE=1(large_intestine)	1	ACVR2A	NM_001278579,p.R57W|ENST00000241416,p.R57W|NM_001616,p.R57W|ENST00000404590,p.R57W|uc002twh.3,p.R57W|uc002twg.3,p.R57W	retained_intron, protein_coding, processed_transcript	uc002twh.3	nonsynonymous SNV	exon2	c.C169T	p.R57W	TGVEPCYGDKDKRRHCFATWKNISG	TGVEPCYGDKDKWRHCFATWKNISG	7.0	5.0	-	-	4235_2:148653983-148653983 C>T_TGVEPCYGDKDKWRHCFATWKNISG
17:57886179-57886179 T>G	0.0	4235	RECTAL	-	-	-	-	VMP1	ENST00000539763,p.L54R|ENST00000537567,p.L112R|ENST00000591877,p.L52R|ENST00000262291,p.L246R|ENST00000545362,p.L190R|uc010wog.2,p.L54R|uc010woj.2,p.L112R|uc010woh.2,p.L190R|ENST00000536180,p.L149R|uc002ixu.4,p.L246R|uc010woi.2,p.L149R|NM_030938,p.L246R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010woj.2	nonsynonymous SNV	exon6	c.T335G	p.L112R	AESAQDFASRAKLAVQKLVQKVGFF	AESAQDFASRAKRAVQKLVQKVGFF	10.0	8.0	-	-	4235_17:57886179-57886179 T>G_AESAQDFASRAKRAVQKLVQKVGFF
19:24310120-24310120 G>A	0.0	4235	RECTAL	-	-	-	-	ZNF254	uc010xrk.2,p.G355S|NM_001278664,p.G367S|NM_001278662,p.G399S|NM_001278678,p.G355S|ENST00000357002,p.G440S|NM_203282,p.G440S|uc002nru.3,p.G440S|NM_001278663,p.G355S|NM_001278661,p.G399S|ENST00000342944,p.G355S|NM_001278677,p.G399S	retained_intron, protein_coding, nonsense_mediated_decay	uc010xrk.2	nonsynonymous SNV	exon3	c.G1063A	p.G355S	HTGEKPYKCEECGKAFIWSSTLTKH	HTGEKPYKCEECSKAFIWSSTLTKH	10.0	2.0	unscreened	-	4235_19:24310120-24310120 G>A_HTGEKPYKCEECSKAFIWSSTLTKH
5:140605446-140605446 G>A	0.0	4235	RECTAL	-	-	ID=COSM1062841;OCCURENCE=1(central_nervous_system),1(urinary_tract),1(large_intestine),1(endometrium)	-	PCDHB14	uc003ljb.3,p.R790Q|ENST00000515856,p.R637Q|NM_018934,p.R790Q|ENST00000239449,p.R790Q	protein_coding	uc003ljb.3	nonsynonymous SNV	exon1	c.G2369A	p.R790Q	DTGRNMGEIENFRNSFGLNIQ	DTGRNMGEIENFQNSFGLNIQ	8.0	6.0	-	-	4235_5:140605446-140605446 G>A_DTGRNMGEIENFQNSFGLNIQ
8:126443244-126443244 C>A	0.0	4235	RECTAL	-	-	-	-	TRIB1	ENST00000311922,p.L34M|NM_025195,p.L34M|uc003yrx.3,p.L34M	protein_coding, processed_transcript	uc003yrx.3	nonsynonymous SNV	exon1	c.C100A	p.L34M	LFPATRGVPAKRLLDADDAAAVAAK	LFPATRGVPAKRMLDADDAAAVAAK	9.0	2.0	-	-	4235_8:126443244-126443244 C>A_LFPATRGVPAKRMLDADDAAAVAAK
21:15954509-15954509 C>T	0.0	4235	RECTAL	-	-	-	-	SAMSN1	NM_001256370,p.R70H|ENST00000285670,p.R70H|uc002yjv.1,p.R70H	protein_coding, processed_transcript	uc002yjv.1	nonsynonymous SNV	exon2	c.G209A	p.R70H	QVGPWDHCSSCIRHTRLKSSCSDMD	QVGPWDHCSSCIHHTRLKSSCSDMD	5.0	10.0	-	-	4235_21:15954509-15954509 C>T_QVGPWDHCSSCIHHTRLKSSCSDMD
12:25398284-25398284 C>G	0.0	4235	RECTAL	-	-	ID=COSM1140134,COSM522;OCCURENCE=3(upper_aerodigestive_tract),1(bone),1(oesophagus),25(stomach),6(central_nervous_system),1(thymus),4(cervix),1(testis),33(haematopoietic_and_lymphoid_tissue),1(gastrointestinal_tract_(site_indeterminate)),6(thyroid),1(peritoneum),290(lung),55(endometrium),35(ovary),3(soft_tissue),7(urinary_tract),1(liver),75(pancreas),2(prostate),29(biliary_tract),1086(large_intestine),1(skin),1(breast),9(small_intestine)	1	KRAS	NM_004985,p.G12A|uc001rgq.1,p.G12A|NM_033360,p.G12A|uc001rgp.1,p.G12A|ENST00000556131,p.G12A|ENST00000256078,p.G12A|ENST00000557334,p.G12A|ENST00000311936,p.G12A	protein_coding	uc001rgq.1	nonsynonymous SNV	exon2	c.G35C	p.G12A	MTEYKLVVVGAGGVGKSALTIQLI	MTEYKLVVVGAAGVGKSALTIQLI	6.0	9.0	-	-	4235_12:25398284-25398284 C>G_MTEYKLVVVGAAGVGKSALTIQLI
2:239133937-239133937 G>A	0.0	4235	RECTAL	-	-	-	-	LOC151174	ENST00000409070,p.P113L|uc002vxx.3,p.P90L|ENST00000409376,p.P93L|ENST00000409942,p.P93L|ENST00000334973,p.P90L	retained_intron, protein_coding, processed_transcript	uc002vxx.3	nonsynonymous SNV	exon3	c.C269T	p.P90L	SRLPAAPDASQAPLRSPWALSVAAA	SRLPAAPDASQALLRSPWALSVAAA	1.0	10.0	unscreened	-	4235_2:239133937-239133937 G>A_SRLPAAPDASQALLRSPWALSVAAA
6:149847816-149847816 T>G	0.0	4235	RECTAL	-	-	-	-	PPIL4	NM_139126,p.I259L|uc003qmp.2,p.I259L|ENST00000253329,p.I259L|uc003qmo.2,p.I259L	protein_coding	uc003qmp.2	nonsynonymous SNV	exon8	c.A775C	p.I259L	LNPVTTDEDLEIIFSRFGPIRSCEV	LNPVTTDEDLEILFSRFGPIRSCEV	7.0	2.0	unscreened	-	4235_6:149847816-149847816 T>G_LNPVTTDEDLEILFSRFGPIRSCEV
7:12728105-12728105 G>T	0.0	4235	RECTAL	-	-	-	-	ARL4A	ENST00000396663,p.V76L|uc003ssq.3,p.V76L|ENST00000396664,p.V76L|ENST00000396662,p.V76L|uc003ssp.3,p.V76L|NM_005738,p.V76L|uc021zzr.1,p.V76L|uc003sss.3,p.V76L|NM_001037164,p.V76L|uc021zzq.1,p.V76L|NM_212460,p.V76L|NM_001195396,p.V76L|ENST00000404894,p.V76L|ENST00000356797,p.V76L	protein_coding	uc021zzr.1	nonsynonymous SNV	exon1	c.G226T	p.V76L	GNSKTVTFHFWDVGGQEKLRPLWKS	GNSKTVTFHFWDLGGQEKLRPLWKS	8.0	7.0	-	-	4235_7:12728105-12728105 G>T_GNSKTVTFHFWDLGGQEKLRPLWKS
17:7577121-7577121 G>A	0.0	4235	RECTAL	-	-	ID=COSM3355991,COSM10659,COSM1645518,COSM99933;OCCURENCE=34(ovary),14(endometrium),3(small_intestine),22(breast),11(skin),5(prostate),111(large_intestine),3(biliary_tract),1(genital_tract),1(adrenal_gland),14(urinary_tract),2(kidney),16(pancreas),20(liver),131(central_nervous_system),23(stomach),2(vulva),25(oesophagus),26(upper_aerodigestive_tract),9(bone),4(thyroid),1(penis),17(lung),5(cervix),25(haematopoietic_and_lymphoid_tissue)	1	TP53	NM_001276698,p.R114C|NM_001276760,p.R234C|NM_001276761,p.R234C|ENST00000420246,p.R273C|uc002gii.2,p.R114C|uc002gih.3,p.R273C|NM_001126114,p.R273C|ENST00000269305,p.R273C|uc031qyq.1,p.R234C|ENST00000509690,p.R141C|uc010cnf.2,p.R114C|ENST00000445888,p.R273C|NM_001276699,p.R114C|NM_001276696,p.R234C|NM_001126118,p.R234C|NM_000546,p.R273C|NM_001276695,p.R234C|NM_001126115,p.R141C|NM_001126116,p.R141C|ENST00000455263,p.R273C|NM_001126117,p.R141C|NM_001276697,p.R114C|ENST00000359597,p.R273C|uc002gij.3,p.R234C|uc010cng.2,p.R114C|NM_001126113,p.R273C|NM_001126112,p.R273C	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon7	c.C700T	p.R234C	SGNLLGRNSFEVRVCACPGRDRRTE	SGNLLGRNSFEVCVCACPGRDRRTE	10.0	10.0	-	-	4235_17:7577121-7577121 G>A_SGNLLGRNSFEVCVCACPGRDRRTE
14:73008205-73008205 G>A	0.0	4235	RECTAL	-	-	-	-	RGS6	ENST00000434263,p.A415T|uc010ttp.1,p.A415T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ttp.1	nonsynonymous SNV	exon16	c.G1243A	p.A415T	RSVNVQNTRPAGAWSIFMAALPMAV	RSVNVQNTRPAGTWSIFMAALPMAV	2.0	3.0	unscreened	-	4235_14:73008205-73008205 G>A_RSVNVQNTRPAGTWSIFMAALPMAV
1:158325101-158325101 A>C	0.0	4235	RECTAL	-	-	-	-	CD1E	ENST00000368160,p.I123L|uc001fsf.3,p.I123L|NM_030893,p.I123L|uc001fry.3,p.I123L|NM_001042584,p.I123L|ENST00000434258,p.I121L|NM_001042585,p.I123L|uc001fse.3,p.I123L|ENST00000368167,p.I123L|uc001fsd.3,p.I123L|NM_001042583,p.I123L|uc010pid.2,p.I121L|ENST00000368163,p.I123L|ENST00000368161,p.I123L	protein_coding, processed_transcript	uc010pid.2	nonsynonymous SNV	exon3	c.A361C	p.I121L	SAGQFQLEYPFEIQILAGCRMNAPQ	SAGQFQLEYPFELQILAGCRMNAPQ	2.0	4.0	-	-	4235_1:158325101-158325101 A>C_SAGQFQLEYPFELQILAGCRMNAPQ
15:63984705-63984705 C>T	0.0	4235	RECTAL	-	-	-	-	HERC1	NM_003922,p.R1912H|uc002amp.3,p.R1912H|ENST00000443617,p.R1912H	retained_intron, protein_coding, nonsense_mediated_decay	uc002amp.3	nonsynonymous SNV	exon31	c.G5735A	p.R1912H	AELHLGDFLVFLRRVVSSKAIQSKM	AELHLGDFLVFLHRVVSSKAIQSKM	7.0	9.0	-	-	4235_15:63984705-63984705 C>T_AELHLGDFLVFLHRVVSSKAIQSKM
14:105414926-105414926 C>A	0.0	4235	RECTAL	-	-	-	-	AHNAK2	uc001ypx.2,p.V2188F|uc010axc.1,p.V2288F|NM_138420,p.V2288F|ENST00000333244,p.V2288F	retained_intron, protein_coding	uc010axc.1	nonsynonymous SNV	exon7	c.G6862T	p.V2288F	DVEVSLPSVEVDVKAPGAKLDGARL	DVEVSLPSVEVDFKAPGAKLDGARL	9.0	7.0	-	-	4235_14:105414926-105414926 C>A_DVEVSLPSVEVDFKAPGAKLDGARL
21:10914373-10914373 C>T	0.0	4235	RECTAL	-	-	-	-	TPTE	NM_199261,p.G449E|ENST00000342420,p.G411E|NM_001290224,p.G311E|ENST00000361285,p.G449E|NM_199260,p.G411E|ENST00000298232,p.G431E|uc010gkv.1,p.G311E|uc002yip.1,p.G449E|uc002yir.1,p.G411E|NM_199259,p.G431E|uc002yiq.1,p.G431E	protein_coding, processed_transcript	uc010gkv.1	nonsynonymous SNV	exon16	c.G932A	p.G311E	MEKKVVFSTISLGKCSVLDNITTDK	MEKKVVFSTISLEKCSVLDNITTDK	1.0	2.0	unscreened	-	4235_21:10914373-10914373 C>T_MEKKVVFSTISLEKCSVLDNITTDK
4:41646549-41646549 A>C	0.0	4235	RECTAL	-	-	-	-	LIMCH1	NM_001289122,p.E323A|ENST00000513024,p.E164A|NM_001289124,p.E164A|ENST00000509277,p.E169A|ENST00000512820,p.E323A|uc003gvx.4,p.E323A|ENST00000381753,p.E169A|uc003gvy.4,p.E164A|uc003gwd.4,p.E169A|NM_001112720,p.E169A|ENST00000514096,p.E176A|uc011byu.2,p.E169A	protein_coding, processed_transcript	uc011byu.2	nonsynonymous SNV	exon4	c.A506C	p.E169A	FRSTSMFDMRCEEEAAVQPHSRARQ	FRSTSMFDMRCEAEAAVQPHSRARQ	9.0	9.0	-	-	4235_4:41646549-41646549 A>C_FRSTSMFDMRCEAEAAVQPHSRARQ
4:41646549-41646549 A>C	0.0	4235	RECTAL	-	-	-	-	LIMCH1	uc003gwa.4,p.E176A|NM_001112719,p.E181A|NM_001112718,p.E335A|uc003gvv.4,p.E335A|ENST00000508501,p.E335A|uc003gwe.4,p.E335A|ENST00000503057,p.E720A|uc003gvz.4,p.E720A|NM_001112717,p.E335A|uc003gvw.4,p.E335A|uc011byv.2,p.E86A|uc003gwc.4,p.E181A|NM_014988,p.E335A|ENST00000512946,p.E335A|ENST00000512632,p.E335A|ENST00000313860,p.E335A|ENST00000511496,p.E176A|ENST00000396595,p.E181A|uc003gvu.4,p.E335A	protein_coding, processed_transcript	uc011byv.2	nonsynonymous SNV	exon4	c.A257C	p.E86A	AESTSMFDMRCEEEAAVQPHSRARQ	AESTSMFDMRCEAEAAVQPHSRARQ	9.0	9.0	-	-	4235_4:41646549-41646549 A>C_AESTSMFDMRCEAEAAVQPHSRARQ
16:56926069-56926069 G>A	0.0	4235	RECTAL	-	-	-	-	SLC12A3	NM_000339,p.A815T|ENST00000438926,p.A815T|uc010ccn.3,p.A814T|NM_001126107,p.A814T|ENST00000566786,p.A814T|uc002ekd.4,p.A815T	retained_intron, protein_coding, processed_transcript	uc010ccn.3	nonsynonymous SNV	exon20	c.G2440A	p.A814T	ASARGARPSVSGALDPKALVKEEQA	ASARGARPSVSGTLDPKALVKEEQA	1.0	10.0	-	-	4235_16:56926069-56926069 G>A_ASARGARPSVSGTLDPKALVKEEQA
5:71756834-71756834 G>A	0.0	4235	RECTAL	-	-	-	-	ZNF366	ENST00000318442,p.P164S|NM_152625,p.P164S|uc003kce.1,p.P164S	protein_coding, nonsense_mediated_decay	uc003kce.1	nonsynonymous SNV	exon2	c.C490T	p.P164S	QEPIKPSAVWPQPTPTPFLPTPYPY	QEPIKPSAVWPQSTPTPFLPTPYPY	3.0	1.0	-	-	4235_5:71756834-71756834 G>A_QEPIKPSAVWPQSTPTPFLPTPYPY
11:1263493-1263493 G>A	0.0	4235	RECTAL	-	-	-	-	MUC5B	uc001lta.3,p.D1795N|NM_002458,p.D1795N|ENST00000529681,p.D1795N|ENST00000447027,p.D1798N	retained_intron, protein_coding, processed_transcript	uc001lta.3	nonsynonymous SNV	exon31	c.G5383A	p.D1795N	RCQPKCEWTEWFDVDFPTSGVAGGD	RCQPKCEWTEWFNVDFPTSGVAGGD	5.0	10.0	-	-	4235_11:1263493-1263493 G>A_RCQPKCEWTEWFNVDFPTSGVAGGD
11:120744821-120744821 C>T	0.0	4235	RECTAL	-	-	-	-	GRIK4	uc009zaw.1,p.A318V|NM_014619,p.A318V|uc009zav.1,p.A318V|uc009zax.1,p.A318V|NM_001282473,p.A318V|NM_001282470,p.A318V|ENST00000438375,p.A318V|ENST00000527524,p.A318V|uc001pxn.2,p.A318V	retained_intron, protein_coding, processed_transcript	uc009zax.1	nonsynonymous SNV	exon8	c.C953T	p.A318V	ALLFDAVYAVVTAVQELNRSQEIGV	ALLFDAVYAVVTVVQELNRSQEIGV	1.0	4.0	-	-	4235_11:120744821-120744821 C>T_ALLFDAVYAVVTVVQELNRSQEIGV
20:57430116-57430116 G>A	0.0	4235	RECTAL	-	-	-	1	GNAS	NM_001077490,p.A537T|ENST00000306120,p.A536T	retained_intron, protein_coding, processed_transcript	NM_001077490	nonsynonymous SNV	exon1	c.G1609A	p.A537T	DASAGFSIGEIAAAESPSATYSATF	DASAGFSIGEIATAESPSATYSATF	10.0	4.0	unscreened	-	4235_20:57430116-57430116 G>A_DASAGFSIGEIATAESPSATYSATF
19:22575277-22575277 T>A	0.0	4235	RECTAL	-	-	-	-	ZNF98	ENST00000357774,p.T254S|NM_001098626,p.T254S|uc002nqt.2,p.T254S	protein_coding, processed_transcript	uc002nqt.2	nonsynonymous SNV	exon4	c.A760T	p.T254S	ECGKAFNRLSHLTTHKIIHTGKKPY	ECGKAFNRLSHLSTHKIIHTGKKPY	5.0	5.0	unscreened	-	4235_19:22575277-22575277 T>A_ECGKAFNRLSHLSTHKIIHTGKKPY
16:460246-460246 C>T	0.0	4235	RECTAL	0.0005	-	-	-	DECR2	uc002chb.3,p.A114V|ENST00000424398,p.A102V|uc002chd.3,p.A30V|ENST00000219481,p.A114V|uc002chc.3,p.A30V|NM_020664,p.A114V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002chd.3	nonsynonymous SNV	exon7	c.C89T	p.A30V	KEFGRIDILINCAAGNFLCPAGALS	KEFGRIDILINCVAGNFLCPAGALS	6.0	1.0	-	-	4235_16:460246-460246 C>T_KEFGRIDILINCVAGNFLCPAGALS
14:94776154-94776154 G>A	0.0	4235	RECTAL	-	-	-	-	SERPINA6	uc001ycv.3,p.P268L|ENST00000341584,p.P268L|NM_001756,p.P268L	protein_coding, nonsense_mediated_decay	uc001ycv.3	nonsynonymous SNV	exon3	c.C803T	p.P268L	NYVGNGTVFFILPDKGKMNTVIAAL	NYVGNGTVFFILLDKGKMNTVIAAL	4.0	9.0	-	-	4235_14:94776154-94776154 G>A_NYVGNGTVFFILLDKGKMNTVIAAL
5:107684112-107684112 C>A	0.0	4235	RECTAL	-	-	-	-	FBXL17	ENST00000496714,p.Q100H|uc011cvc.2,p.Q498H|uc003kon.4,p.Q100H|ENST00000359660,p.Q100H|ENST00000542267,p.Q498H|NM_001163315,p.Q498H	retained_intron, protein_coding	uc011cvc.2	nonsynonymous SNV	exon4	c.G1494T	p.Q498H	AKGCLKLQRIYMQENKLVTDQSVKA	AKGCLKLQRIYMHENKLVTDQSVKA	6.0	1.0	unscreened	-	4235_5:107684112-107684112 C>A_AKGCLKLQRIYMHENKLVTDQSVKA
6:138657564-138657564 C>T	0.0	4235	RECTAL	-	-	ID=COSM1698093,COSM1698092;OCCURENCE=1(skin),1(pancreas)	-	KIAA1244	ENST00000251691,p.R2159C|NM_020340,p.R2159C|uc003qhu.3,p.R2159C	protein_coding	uc003qhu.3	nonsynonymous SNV	exon34	c.C6475T	p.R2159C	SQLTCHVTDIRVRQAVREWLGRVGR	SQLTCHVTDIRVCQAVREWLGRVGR	6.0	1.0	unscreened	-	4235_6:138657564-138657564 C>T_SQLTCHVTDIRVCQAVREWLGRVGR
17:42452395-42452395 C>T	0.0	4235	RECTAL	-	-	-	-	ITGA2B	ENST00000353281,p.A938T	retained_intron, protein_coding	ENST00000353281	nonsynonymous SNV	exon27	c.G2812A	p.A938T	MARGQRAMVTVLAFLWLPSLYQVWT	MARGQRAMVTVLTFLWLPSLYQVWT	3.0	3.0	-	-	4235_17:42452395-42452395 C>T_MARGQRAMVTVLTFLWLPSLYQVWT
3:169569563-169569563 G>A	0.0	4235	RECTAL	-	-	-	-	LRRC31	ENST00000264676,p.P279S|uc010hwp.2,p.P279S|NM_001277127,p.P335S|uc031scf.1,p.P335S|NM_001277128,p.P279S|uc003fgc.2,p.P335S|ENST00000316428,p.P335S|ENST00000523069,p.P335S|NM_024727,p.P335S	protein_coding, processed_transcript	uc031scf.1	nonsynonymous SNV	exon7	c.C1003T	p.P335S	TADDVMSLTQVIPLLSNLQELDLSA	TADDVMSLTQVISLLSNLQELDLSA	5.0	2.0	-	-	4235_3:169569563-169569563 G>A_TADDVMSLTQVISLLSNLQELDLSA
1:64089169-64089169 G>C	0.0	4235	RECTAL	-	-	-	-	PGM1	ENST00000371083,p.R13T|uc010ooz.2,p.R13T|NM_001172818,p.R13T	protein_coding, processed_transcript	uc010ooz.2	nonsynonymous SNV	exon1	c.G38C	p.R13T	MSDFEEWISGTYRKMEEGPLPLLTF	MSDFEEWISGTYTKMEEGPLPLLTF	8.0	1.0	-	-	4235_1:64089169-64089169 G>C_MSDFEEWISGTYTKMEEGPLPLLTF
17:61086927-61086927 C>T	0.0	4235	RECTAL	-	-	-	-	TANC2	uc002jal.4,p.R3W|ENST00000424789,p.R3W|ENST00000389520,p.R3W|NM_025185,p.R3W	retained_intron, protein_coding	uc002jal.4	nonsynonymous SNV	exon1	c.C7T	p.R3W	MFRNSLKMLLTGGKS	MFWNSLKMLLTGGKS	7.0	5.0	-	-	4235_17:61086927-61086927 C>T_MFWNSLKMLLTGGKS
18:48604707-48604707 G>T	0.0	4235	RECTAL	-	-	ID=COSM1151558;OCCURENCE=2(large_intestine)	1	SMAD4	ENST00000398417,p.G510V|NM_005359,p.G510V|uc002lfb.4,p.G355V|ENST00000342988,p.G510V|uc010xdp.2,p.G510V|ENST00000588745,p.G414V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xdp.2	nonsynonymous SNV	exon12	c.G1529T	p.G510V	LCILRMSFVKGWGPDYPRQSIKETP	LCILRMSFVKGWVPDYPRQSIKETP	10.0	6.0	-	-	4235_18:48604707-48604707 G>T_LCILRMSFVKGWVPDYPRQSIKETP
5:140516577-140516577 G>A	0.0	4235	RECTAL	-	-	ID=COSM3610651;OCCURENCE=1(lung)	-	PCDHB5	ENST00000231134,p.E521K|NM_015669,p.E521K|uc003liq.3,p.E521K	protein_coding	uc003liq.3	nonsynonymous SNV	exon1	c.G1561A	p.E521K	NGHLFALRSLDYEALQAFEFRVGAT	NGHLFALRSLDYKALQAFEFRVGAT	5.0	6.0	-	-	4235_5:140516577-140516577 G>A_NGHLFALRSLDYKALQAFEFRVGAT
5:140743948-140743948 C>A	0.0	4235	RECTAL	-	-	-	-	PCDHGA5	uc003lju.2,p.F17L|NM_018918,p.F17L|ENST00000518069,p.F17L|NM_032054,p.F17L|uc011das.2,p.F17L	protein_coding	uc011das.2	nonsynonymous SNV	exon1	c.C51A	p.F17L	PRGWGCGELLLPFMLLGTLCEPGSG	PRGWGCGELLLPLMLLGTLCEPGSG	4.0	8.0	-	-	4235_5:140743948-140743948 C>A_PRGWGCGELLLPLMLLGTLCEPGSG
22:31864173-31864173 G>A	0.0	4235	RECTAL	-	-	-	-	EIF4ENIF1	NM_019843,p.R96C|uc003ala.2,p.R96C|NM_001164501,p.R96C|uc003akz.2,p.R96C|ENST00000397523,p.R96C|ENST00000330125,p.R96C|ENST00000397525,p.R96C|ENST00000423097,p.R96C	retained_intron, protein_coding, nonsense_mediated_decay	uc003ala.2	nonsynonymous SNV	exon4	c.C286T	p.R96C	KKELDTDRPSLVRRIVDPRERVKED	KKELDTDRPSLVCRIVDPRERVKED	8.0	7.0	-	-	4235_22:31864173-31864173 G>A_KKELDTDRPSLVCRIVDPRERVKED
10:33017818-33017818 G>A	0.0	4235	RECTAL	-	-	ID=COSM3774493,COSM3774492;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	CCDC7	uc001iwm.1,p.R174H|uc001iwn.4,p.R198H|NM_024688,p.R198H|uc001iwl.1,p.R206H|ENST00000375028,p.R174H|ENST00000375030,p.R206H|ENST00000302316,p.R198H|ENST00000375025,p.R198H	protein_coding, processed_transcript, nonsense_mediated_decay	uc001iwn.4	nonsynonymous SNV	exon9	c.G593A	p.R198H	KKITPGRERRNTRIVVPNENVISVH	KKITPGRERRNTHIVVPNENVISVH	3.0	8.0	-	-	4235_10:33017818-33017818 G>A_KKITPGRERRNTHIVVPNENVISVH
3:50131208-50131208 G>T	0.0	4235	RECTAL	-	-	-	-	RBM5	ENST00000404526,p.G80V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000404526	nonsynonymous SNV	exon4	c.G239T	p.G80V	NSDRSEDGYHSDGDYDSRNDGVLRR	NSDRSEDGYHSDVDYDSRNDGVLRR	10.0	1.0	unscreened	-	4235_3:50131208-50131208 G>T_NSDRSEDGYHSDVDYDSRNDGVLRR
3:50131208-50131208 G>T	0.0	4235	RECTAL	-	-	-	-	RBM5	ENST00000441305,p.G80V|uc003cyf.3,p.G80V|uc003cyg.3,p.G80V|NM_005778,p.G80V|ENST00000469838,p.G80V|ENST00000437500,p.G80V|ENST00000347869,p.G80V|ENST00000417905,p.G80V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003cyg.3	nonsynonymous SNV	exon4	c.G239T	p.G80V	NSDRSEDGYHSDGDYGEHDYRHDIS	NSDRSEDGYHSDVDYGEHDYRHDIS	10.0	1.0	unscreened	-	4235_3:50131208-50131208 G>T_NSDRSEDGYHSDVDYGEHDYRHDIS
14:20444015-20444015 G>A	0.0	4235	RECTAL	0.0009	-	ID=COSM182501;OCCURENCE=1(large_intestine)	-	OR4K15	ENST00000305051,p.R113H|NM_001005486,p.R113H|uc010tkx.2,p.R113H	protein_coding	uc010tkx.2	nonsynonymous SNV	exon1	c.G338A	p.R113H	ATPKMIADFLVERKTISFDACLAQI	ATPKMIADFLVEHKTISFDACLAQI	1.0	4.0	unscreened	-	4235_14:20444015-20444015 G>A_ATPKMIADFLVEHKTISFDACLAQI
15:42364548-42364548 G>A	0.0	4235	RECTAL	-	-	-	-	PLA2G4D	uc001zox.3,p.R454W|NM_178034,p.R454W|ENST00000290472,p.R454W	retained_intron, protein_coding	uc001zox.3	nonsynonymous SNV	exon14	c.C1360T	p.R454W	DQKLSGQRAALERGQNPLPLYLSLN	DQKLSGQRAALEWGQNPLPLYLSLN	2.0	10.0	-	-	4235_15:42364548-42364548 G>A_DQKLSGQRAALEWGQNPLPLYLSLN
19:55607700-55607700 G>A	0.0	4235	RECTAL	-	-	-	-	PPP1R12C	uc002qiy.4,p.R319W|NM_001271618,p.R319W|NM_017607,p.R319W|ENST00000435544,p.R245W|ENST00000376393,p.R319W|uc010yfs.2,p.R245W|ENST00000263433,p.R319W|uc002qix.4,p.R319W	retained_intron, protein_coding	uc010yfs.2	nonsynonymous SNV	exon7	c.C733T	p.R245W	LLEELARKQEDLRNQKEASQSRGQE	LLEELARKQEDLWNQKEASQSRGQE	9.0	7.0	-	-	4235_19:55607700-55607700 G>A_LLEELARKQEDLWNQKEASQSRGQE
8:54859308-54859308 G>A	0.0	4235	RECTAL	-	-	-	-	RGS20	NM_001286673,p.S133N|NM_170587,p.S248N|NM_001286675,p.S40N|NM_003702,p.S101N|uc003xrp.3,p.S248N|uc003xrs.3,p.S101N|ENST00000297313,p.S248N|uc010lye.3,p.S40N|ENST00000276500,p.S101N|ENST00000344277,p.S133N|uc003xrq.3,p.S133N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lye.3	nonsynonymous SNV	exon2	c.G119A	p.S40N	HELRADLPTWEESPAPTLEEVNAWA	HELRADLPTWEENPAPTLEEVNAWA	1.0	3.0	-	-	4235_8:54859308-54859308 G>A_HELRADLPTWEENPAPTLEEVNAWA
16:89017602-89017602 C>T	0.0	4235	RECTAL	-	-	-	1	LOC100129697	NM_001290330,p.P359L|ENST00000378347,p.P359L	protein_coding	NM_001290330	nonsynonymous SNV	exon2	c.C1076T	p.P359L	TGTEGQSVGTCLPDLFTRPLDRHRH	TGTEGQSVGTCLLDLFTRPLDRHRH	1.0	3.0	unscreened	-	4235_16:89017602-89017602 C>T_TGTEGQSVGTCLLDLFTRPLDRHRH
17:48431105-48431105 C>T	0.0	4235	RECTAL	-	-	-	-	XYLT2	ENST00000376550,p.R84C|ENST00000507602,p.R84C|uc002iqo.3,p.R84C|ENST00000017003,p.R84C|NM_022167,p.R84C	retained_intron, protein_coding, nonsense_mediated_decay	uc002iqo.3	nonsynonymous SNV	exon2	c.C250T	p.R84C	GSTGRRHGRWRGRAESPGVPVAKVV	GSTGRRHGRWRGCAESPGVPVAKVV	7.0	10.0	-	-	4235_17:48431105-48431105 C>T_GSTGRRHGRWRGCAESPGVPVAKVV
15:69339786-69339786 C>T	0.0	4235	RECTAL	-	-	-	-	NOX5	ENST00000260364,p.R558C|NM_001184779,p.R548C|ENST00000388866,p.R576C|uc010bid.2,p.R541C|NM_024505,p.R576C|ENST00000530406,p.R548C|ENST00000448182,p.R530C|uc002arr.2,p.R548C|uc002ars.2,p.R576C|uc002arq.2,p.R530C|NM_001184780,p.R541C|uc010bie.2,p.R376C|uc002arp.2,p.R558C|ENST00000455873,p.R541C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bie.2	nonsynonymous SNV	exon11	c.C1126T	p.R376C	KCYIDGPYGTPTRRIFASEHAVLIG	KCYIDGPYGTPTCRIFASEHAVLIG	1.0	10.0	-	-	4235_15:69339786-69339786 C>T_KCYIDGPYGTPTCRIFASEHAVLIG
2:148680662-148680662 C>T	0.0	4235	RECTAL	-	-	-	1	ACVR2A	uc002twh.3,p.R400C|NM_001278579,p.R400C|NM_001616,p.R400C|ENST00000404590,p.R400C|ENST00000535787,p.R292C|uc002twg.3,p.R400C|uc010zbn.2,p.R292C|ENST00000241416,p.R400C|NM_001278580,p.R292C	retained_intron, protein_coding, processed_transcript	uc010zbn.2	nonsynonymous SNV	exon9	c.C874T	p.R292C	YAMGLVLWELASRCTAADGPVDEYM	YAMGLVLWELASCCTAADGPVDEYM	7.0	8.0	-	-	4235_2:148680662-148680662 C>T_YAMGLVLWELASCCTAADGPVDEYM
10:102684073-102684073 C>G	0.0	4235	RECTAL	-	-	-	-	FAM178A	uc001krt.4,p.P439A|ENST00000370271,p.P439A|NM_018121,p.P439A|uc001kru.1,p.P374A|ENST00000370269,p.P439A|NM_001136123,p.P439A|ENST00000238961,p.P439A|uc001krr.1,p.P439A|uc001krs.3,p.P439A	protein_coding, processed_transcript	uc001kru.1	nonsynonymous SNV	exon3	c.C1120G	p.P374A	QVAGTKETKMQKPHLPLSQEKSAIK	QVAGTKETKMQKAHLPLSQEKSAIK	6.0	5.0	-	-	4235_10:102684073-102684073 C>G_QVAGTKETKMQKAHLPLSQEKSAIK
2:207173160-207173160 C>T	0.0	4235	RECTAL	0.01	-	-	-	ZDBF2	uc002vbp.2,p.A1303V|NM_001285549,p.A1301V|ENST00000374423,p.A1303V|NM_020923,p.A1303V|uc031rqy.1,p.A1301V	protein_coding	uc031rqy.1	nonsynonymous SNV	exon7	c.C3902T	p.A1301V	EPLQSVTNKIPGANKEINLLREEHV	EPLQSVTNKIPGVNKEINLLREEHV	3.0	5.0	-	-	4235_2:207173160-207173160 C>T_EPLQSVTNKIPGVNKEINLLREEHV
17:42452395-42452395 C>T	0.0	4235	RECTAL	-	-	-	-	ITGA2B	NM_000419,p.A938T|uc002igt.1,p.A938T|ENST00000262407,p.A938T	retained_intron, protein_coding	uc002igt.1	nonsynonymous SNV	exon27	c.G2812A	p.A938T	MARGQRAMVTVLAFLWLPSLYQRPL	MARGQRAMVTVLTFLWLPSLYQRPL	3.0	3.0	-	-	4235_17:42452395-42452395 C>T_MARGQRAMVTVLTFLWLPSLYQRPL
19:3959233-3959233 G>A	0.0	4235	RECTAL	-	-	-	-	DAPK3	ENST00000301264,p.R411C|NM_001348,p.R411C|uc002lzd.1,p.R411C|uc002lzb.1,p.R148C|uc002lzc.1,p.R411C|ENST00000545797,p.R411C	retained_intron, protein_coding	uc002lzd.1	nonsynonymous SNV	exon9	c.C1231T	p.R411C	AKGALLGTSGLKRRFSRLENRYEAL	AKGALLGTSGLKCRFSRLENRYEAL	9.0	4.0	-	-	4235_19:3959233-3959233 G>A_AKGALLGTSGLKCRFSRLENRYEAL
2:27802984-27802984 G>A	0.0	4235	RECTAL	-	-	-	-	C2orf16	uc002rkz.4,p.R1182H|NM_032266,p.R1182H|ENST00000408964,p.R1182H	protein_coding	uc002rkz.4	nonsynonymous SNV	exon1	c.G3545A	p.R1182H	LRIGKRSQISKYRERDRPVIRRSPI	LRIGKRSQISKYHERDRPVIRRSPI	1.0	10.0	-	-	4235_2:27802984-27802984 G>A_LRIGKRSQISKYHERDRPVIRRSPI
7:138269562-138269562 ->A	0.0	4235	RECTAL	-	-	-	1	TRIM24	uc003vub.3,p.E973fs|ENST00000343526,p.E1007fs|NM_003852,p.E973fs|uc003vuc.3,p.E1007fs|ENST00000415680,p.E973fs|NM_015905,p.E1007fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vuc.3	frameshift insertion	exon19	c.3020dupA	p.E1007fs	NYFEELLKNLYPEKRFPKPEFRNES	NYFEELLKNLYPEKKVSQTRIQE	8.0	9.0	-	-	4235_7:138269562-138269562 ->A_NYFEELLKNLYPEKKVSQTRIQE
4:42964937-42964937 G>A	0.0	4235	RECTAL	-	-	-	-	GRXCR1	ENST00000399770,p.R138H|NM_001080476,p.R138H|uc003gwt.3,p.R138H	protein_coding	uc003gwt.3	nonsynonymous SNV	exon2	c.G413A	p.R138H	VLQQPSTDLEFDRVVIYTTCLRVVR	VLQQPSTDLEFDHVVIYTTCLRVVR	1.0	7.0	-	-	4235_4:42964937-42964937 G>A_VLQQPSTDLEFDHVVIYTTCLRVVR
16:87969980-87969980 C>T	0.0	4235	RECTAL	-	-	-	-	CA5A	NM_001739,p.R26H|ENST00000309893,p.R26H|uc002fkn.1,p.R26H	retained_intron, protein_coding, processed_transcript	uc002fkn.1	nonsynonymous SNV	exon1	c.G77A	p.R26H	FLVEQMWAPLWSRSMRPGRWCSQRS	FLVEQMWAPLWSHSMRPGRWCSQRS	1.0	5.0	-	-	4235_16:87969980-87969980 C>T_FLVEQMWAPLWSHSMRPGRWCSQRS
X:102318048-102318048 C>T	0.0	4235	RECTAL	-	-	-	-	BEX1	uc004ejt.1,p.R52Q|NM_018476,p.R52Q|ENST00000372728,p.R52Q|uc022cbj.1,p.R52Q	protein_coding	uc022cbj.1	nonsynonymous SNV	exon1	c.G155A	p.R52Q	AGEYCVPRGNRRRFRVRQPILQYRW	AGEYCVPRGNRRQFRVRQPILQYRW	2.0	9.0	-	-	4235_X:102318048-102318048 C>T_AGEYCVPRGNRRQFRVRQPILQYRW
19:49344429-49344429 G>A	0.0	4235	RECTAL	-	-	-	-	PLEKHA4	uc002pkx.3,p.R628C|ENST00000263265,p.R628C|NM_020904,p.R628C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002pkx.3	nonsynonymous SNV	exon17	c.C1882T	p.R628C	LLTLGRTLSPARRQPDVEQRPVVGH	LLTLGRTLSPARCQPDVEQRPVVGH	6.0	1.0	-	-	4235_19:49344429-49344429 G>A_LLTLGRTLSPARCQPDVEQRPVVGH
X:26212120-26212120 C>T	0.0	4235	RECTAL	-	-	-	-	MAGEB6	ENST00000379034,p.R53C|NM_173523,p.R53C|uc004dbr.3,p.R53C|uc022buc.1,p.R53C	protein_coding	uc022buc.1	nonsynonymous SNV	exon1	c.C157T	p.R53C	SSSSSRACLGDCRRSSDASIPQESQ	SSSSSRACLGDCCRSSDASIPQESQ	1.0	9.0	-	-	4235_X:26212120-26212120 C>T_SSSSSRACLGDCCRSSDASIPQESQ
10:105209604-105209604 G>A	0.0	4235	RECTAL	-	-	-	-	CALHM2	ENST00000369788,p.T32M|uc001kxb.3,p.T32M|uc001kxc.3,p.T32M|ENST00000393235,p.T32M|NM_015916,p.T32M|uc001kxa.3,p.T32M|ENST00000260743,p.T32M|uc001kxd.1,p.T32M	protein_coding, processed_transcript	uc001kxd.1	nonsynonymous SNV	exon3	c.C95T	p.T32M	DVMIFNGLVALGTVGSQELFSVVAF	DVMIFNGLVALGMVGSQELFSVVAF	5.0	2.0	-	-	4235_10:105209604-105209604 G>A_DVMIFNGLVALGMVGSQELFSVVAF
X:135426986-135426986 T>C	0.0	4235	RECTAL	-	-	-	-	GPR112	ENST00000287534,p.L311P|ENST00000394143,p.L374P|ENST00000394141,p.L169P|uc004ezu.1,p.L374P|NM_153834,p.L374P|ENST00000370652,p.L374P|uc010nsc.1,p.L141P|uc010nsb.1,p.L169P|ENST00000412101,p.L169P	protein_coding	uc010nsc.1	nonsynonymous SNV	exon1	c.T422C	p.L141P	TEIFQPPTPSNFLSTSRFTKNSVVS	TEIFQPPTPSNFPSTSRFTKNSVVS	1.0	9.0	-	-	4235_X:135426986-135426986 T>C_TEIFQPPTPSNFPSTSRFTKNSVVS
22:31864173-31864173 G>A	0.0	4235	RECTAL	-	-	-	-	EIF4ENIF1	uc003alb.2,p.R96C|NM_001164502,p.R96C|ENST00000344710,p.R96C	retained_intron, protein_coding, nonsense_mediated_decay	uc003alb.2	nonsynonymous SNV	exon4	c.C286T	p.R96C	KKELDTDRPSLVRRIVGIVECNGGV	KKELDTDRPSLVCRIVGIVECNGGV	8.0	7.0	-	-	4235_22:31864173-31864173 G>A_KKELDTDRPSLVCRIVGIVECNGGV
1:21050720-21050720 G>A	0.0	4235	RECTAL	-	-	-	-	SH2D5	uc001bdt.1,p.R135C|NM_001103160,p.R135C|uc009vpy.1,p.R219C|ENST00000375031,p.R135C|NM_001103161,p.R219C|ENST00000444387,p.R219C	protein_coding, processed_transcript	uc009vpy.1	nonsynonymous SNV	exon7	c.C655T	p.R219C	VGSGKELPESEGRARHARLGNPYCS	VGSGKELPESEGCARHARLGNPYCS	1.0	10.0	-	-	4235_1:21050720-21050720 G>A_VGSGKELPESEGCARHARLGNPYCS
20:57430116-57430116 G>A	0.0	4235	RECTAL	-	-	-	1	GNAS	uc002xzw.3,p.R599H|ENST00000371102,p.R599H|ENST00000371100,p.R599H|ENST00000371099,p.R599H|NM_080425,p.R599H	retained_intron, protein_coding, processed_transcript	uc002xzw.3	nonsynonymous SNV	exon1	c.G1796A	p.R599H	GCLRWFQHRRNRRRRKPQRNLLRNF	GCLRWFQHRRNRHRRKPQRNLLRNF	10.0	4.0	-	-	4235_20:57430116-57430116 G>A_GCLRWFQHRRNRHRRKPQRNLLRNF
3:195481129-195481129 C>T	0.0	4235	RECTAL	-	-	-	2	MUC4	ENST00000349607,p.E808K|uc003fvb.3,p.E611K|uc021xjn.1,p.E784K|uc021xjm.1,p.E604K|uc021xjj.1,p.E659K|uc003fva.3,p.E575K|uc003fuz.3,p.E693K|uc021xjp.1,p.E5095K|NM_138297,p.E808K|ENST00000346145,p.E859K|uc021xji.1,p.E659K|uc003fve.3,p.E611K|ENST00000463781,p.E5095K|uc021xjl.1,p.E575K|uc021xjk.1,p.E836K|uc021xjo.1,p.E575K|ENST00000475231,p.E5043K|NM_004532,p.E859K|uc021xjg.1,p.E575K|uc003fvp.3,p.E808K|uc003fvo.3,p.E859K|NM_018406,p.E5095K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon19	c.G15283A	p.E5095K	FPSVHCVPGKGCEACPPNLTGDGRH	FPSVHCVPGKGCKACPPNLTGDGRH	7.0	9.0	-	-	4235_3:195481129-195481129 C>T_FPSVHCVPGKGCKACPPNLTGDGRH
4:30723078-30723078 G>A	0.0	4235	RECTAL	-	-	-	-	PCDH7	ENST00000543491,p.G12S|uc011bxx.2,p.G12S|NM_001173523,p.G12S|NM_002589,p.G12S|NM_032457,p.G12S|NM_032456,p.G12S|uc021xnc.1,p.G12S|uc021xnd.1,p.G12S|uc003gsk.1,p.G12S|ENST00000361762,p.G12S	protein_coding, processed_transcript	uc021xnd.1	nonsynonymous SNV	exon1	c.G34A	p.G12S	MLRMRTAGWARGWCLGCCLLLPLS	MLRMRTAGWARSWCLGCCLLLPLS	5.0	3.0	-	-	4235_4:30723078-30723078 G>A_MLRMRTAGWARSWCLGCCLLLPLS
X:595431-595431 G>A	0.0	4235	RECTAL	-	-	-	-	SHOX	uc004cph.1,p.R119H|ENST00000381575,p.R119H|uc004cpi.3,p.R119H|ENST00000334060,p.R119H|NM_006883,p.R119H|ENST00000381578,p.R119H|ENST00000554971,p.R119H|NM_000451,p.R119H	protein_coding, nonsense_mediated_decay	uc004cpi.3	nonsynonymous SNV	exon3	c.G356A	p.R119H	EDEDGQTKLKQRRSRTNFTLEQLNE	EDEDGQTKLKQRHSRTNFTLEQLNE	1.0	9.0	-	-	4235_X:595431-595431 G>A_EDEDGQTKLKQRHSRTNFTLEQLNE
19:37368592-37368592 T>A	0.0	4235	RECTAL	-	-	-	-	ZNF345	uc002oex.3,p.V287E|uc021utq.1,p.V287E|ENST00000589046,p.V287E|NM_001242476,p.V287E|NM_001242474,p.V287E|ENST00000529555,p.V287E|uc021uto.1,p.V287E|uc021utp.1,p.V287E|ENST00000420450,p.V287E|NM_001242472,p.V287E|NM_001242475,p.V287E|NM_003419,p.V287E|uc021utn.1,p.V287E|uc002oey.4,p.V287E	protein_coding, processed_transcript	uc021utq.1	nonsynonymous SNV	exon1	c.T860A	p.V287E	RHQRIHTGEKPYVCKECGKAFNSGS	RHQRIHTGEKPYECKECGKAFNSGS	5.0	2.0	-	-	4235_19:37368592-37368592 T>A_RHQRIHTGEKPYECKECGKAFNSGS
19:30935239-30935239 C>T	0.0	4235	RECTAL	-	-	-	-	ZNF536	NM_014717,p.S257L|uc002nsu.1,p.S257L|uc010edd.1,p.S257L|ENST00000355537,p.S257L|ENST00000585628,p.S257L	protein_coding, processed_transcript	uc010edd.1	nonsynonymous SNV	exon2	c.C770T	p.S257L	NHSVPDVAHPVPSPKPASVQEDAVA	NHSVPDVAHPVPLPKPASVQEDAVA	1.0	5.0	unscreened	-	4235_19:30935239-30935239 C>T_NHSVPDVAHPVPLPKPASVQEDAVA
3:167272547-167272547 C>T	0.0	4235	RECTAL	-	-	-	-	WDR49	ENST00000308378,p.V231I|uc011bpd.1,p.V284I|uc003feu.1,p.V56I|NM_178824,p.V231I|ENST00000453925,p.V284I|ENST00000476376,p.V56I|uc003fev.1,p.V231I	protein_coding, nonsense_mediated_decay	uc011bpd.1	nonsynonymous SNV	exon6	c.G850A	p.V284I	WDFNGYCHHTLNVGQDGAVDISQIL	WDFNGYCHHTLNIGQDGAVDISQIL	3.0	2.0	unscreened	-	4235_3:167272547-167272547 C>T_WDFNGYCHHTLNIGQDGAVDISQIL
12:66698688-66698688 A>G	0.0	4235	RECTAL	-	-	-	-	HELB	ENST00000247815,p.N122S|ENST00000545134,p.N122S|ENST00000440906,p.N122S|NM_033647,p.N122S|ENST00000542394,p.N122S|uc001sti.3,p.N122S	retained_intron, protein_coding, nonsense_mediated_decay	uc001sti.3	nonsynonymous SNV	exon2	c.A365G	p.N122S	PSYFLQSDMSPPNQKHICALFLKEC	PSYFLQSDMSPPSQKHICALFLKEC	5.0	6.0	-	-	4235_12:66698688-66698688 A>G_PSYFLQSDMSPPSQKHICALFLKEC
20:30522508-30522508 C>T	0.0	4235	RECTAL	-	-	-	-	TTLL9	ENST00000535842,p.T274M|uc002wxc.2,p.T176M|ENST00000310998,p.T239M|ENST00000375938,p.T274M|uc010gdx.1,p.T274M|ENST00000375922,p.T216M|NM_001008409,p.T274M	protein_coding	uc010gdx.1	nonsynonymous SNV	exon12	c.C821T	p.T274M	SPDYHPKKGCKWTLQRFRQYLASKH	SPDYHPKKGCKWMLQRFRQYLASKH	3.0	3.0	-	-	4235_20:30522508-30522508 C>T_SPDYHPKKGCKWMLQRFRQYLASKH
6:16327915-16327915 A>C	0.0	4235	RECTAL	-	rs11969612	-	-	ATXN1	NM_001128164,p.H209Q|NM_000332,p.H209Q|ENST00000436367,p.H209Q|uc003nbt.3,p.H209Q|ENST00000244769,p.H209Q|uc010jpi.3,p.H209Q	protein_coding, processed_transcript	uc010jpi.3	nonsynonymous SNV	exon7	c.T627G	p.H209Q	QQQQQQQQQQQQHQHQQQQQQQQQQ	QQQQQQQQQQQQQQHQQQQQQQQQQ	7.0	10.0	unscreened	-	4235_6:16327915-16327915 A>C_QQQQQQQQQQQQQQHQQQQQQQQQQ
4:7719909-7719909 A>G	0.0	4235	RECTAL	-	-	-	-	SORCS2	uc003gkb.4,p.Q808R|uc011bwi.2,p.Q636R|ENST00000507866,p.Q808R|ENST00000329016,p.Q636R|NM_020777,p.Q808R	protein_coding, processed_transcript	uc011bwi.2	nonsynonymous SNV	exon18	c.A1907G	p.Q636R	PGEDVLFVVRQEQGDVLTTKYQVDL	PGEDVLFVVRQERGDVLTTKYQVDL	4.0	2.0	-	-	4235_4:7719909-7719909 A>G_PGEDVLFVVRQERGDVLTTKYQVDL
12:53293648-53293648 C>G	0.0	4235	RECTAL	-	-	-	-	KRT8	ENST00000546897,p.D298H|NM_001256282,p.D326H|uc001sbd.2,p.D298H|ENST00000293308,p.D298H|uc009zmk.1,p.D326H|ENST00000552150,p.D326H|uc009zmm.2,p.D298H|uc009zml.2,p.D298H|NM_002273,p.D298H|NM_001256293,p.D298H|ENST00000552551,p.D298H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zmm.2	nonsynonymous SNV	exon6	c.G892C	p.D298H	YEELQSLAGKHGDDLRRTKTEISEM	YEELQSLAGKHGHDLRRTKTEISEM	10.0	3.0	-	-	4235_12:53293648-53293648 C>G_YEELQSLAGKHGHDLRRTKTEISEM
12:53096725-53096725 C>T	0.0	4235	RECTAL	-	-	-	-	KRT77	uc001saw.3,p.R165Q|ENST00000553168,p.R165Q|ENST00000341809,p.R165Q|NM_175078,p.R165Q	retained_intron, protein_coding, nonsense_mediated_decay	uc001saw.3	nonsynonymous SNV	exon1	c.G494A	p.R165Q	VDPEIQRIKTQEREQIMVLNNKFAS	VDPEIQRIKTQEQEQIMVLNNKFAS	1.0	6.0	-	-	4235_12:53096725-53096725 C>T_VDPEIQRIKTQEQEQIMVLNNKFAS
1:158325101-158325101 A>C	0.0	4235	RECTAL	-	-	-	-	CD1E	uc010pie.2,p.I24L|NM_001185114,p.I24L|ENST00000444681,p.I24L|uc009wsv.3,p.I24L	protein_coding, processed_transcript	uc010pie.2	nonsynonymous SNV	exon2	c.A70C	p.I24L	CCPGENTADPFEIQILAGCRMNAPQ	CCPGENTADPFELQILAGCRMNAPQ	2.0	4.0	-	-	4235_1:158325101-158325101 A>C_CCPGENTADPFELQILAGCRMNAPQ
6:155573105-155573105 T>A	0.0	4235	RECTAL	-	-	-	-	TIAM2	uc010kjj.3,p.Y925N|ENST00000275246,p.Y288N|uc003qqe.3,p.Y1363N|ENST00000529824,p.Y1392N|ENST00000456144,p.Y1392N|uc003qqf.3,p.Y739N|uc003qqb.3,p.Y1363N|uc003qqg.3,p.Y675N|ENST00000528391,p.Y699N|ENST00000360366,p.Y1387N|ENST00000461783,p.Y1363N|ENST00000456877,p.Y675N|NM_001010927,p.Y288N|ENST00000318981,p.Y1363N|NM_012454,p.Y1363N|ENST00000367174,p.Y739N|uc011efl.1,p.Y699N|uc003qqh.3,p.Y288N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011efl.1	nonsynonymous SNV	exon18	c.T2095A	p.Y699N	TVFVFKRAVILVYKENCKLKKKLPS	TVFVFKRAVILVNKENCKLKKKLPS	4.0	8.0	unscreened	-	4235_6:155573105-155573105 T>A_TVFVFKRAVILVNKENCKLKKKLPS
9:114412127-114412127 C>T	0.0	4235	RECTAL	-	-	-	-	DNAJC25	ENST00000313525,p.S295F|NM_001015882,p.S295F|uc004bfm.3,p.S173F|uc004bfl.3,p.S295F	protein_coding, nonsense_mediated_decay	uc004bfm.3	nonsynonymous SNV	exon4	c.C518T	p.S173F	LYIIRKSMKMSKSQFDSLEDHQKET	LYIIRKSMKMSKFQFDSLEDHQKET	5.0	4.0	-	-	4235_9:114412127-114412127 C>T_LYIIRKSMKMSKFQFDSLEDHQKET
16:62055060-62055060 C>T	0.0	4235	RECTAL	-	-	-	-	CDH8	NM_001796,p.G83D|ENST00000299345,p.G83D|ENST00000577730,p.G83D|ENST00000583382,p.G83D|ENST00000577390,p.G83D|uc002eog.2,p.G83D|ENST00000585315,p.G83D|ENST00000584337,p.G83D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002eog.2	nonsynonymous SNV	exon2	c.G248A	p.G83D	LEEFSGPEPILVGRLHTDLDPGSKK	LEEFSGPEPILVDRLHTDLDPGSKK	1.0	8.0	-	-	4235_16:62055060-62055060 C>T_LEEFSGPEPILVDRLHTDLDPGSKK
2:138400076-138400076 G>A	0.0	4235	RECTAL	-	-	-	-	THSD7B	ENST00000272643,p.R1276Q|ENST00000409968,p.R1273Q|ENST00000413152,p.R1245Q	retained_intron, protein_coding, processed_transcript	ENST00000413152	nonsynonymous SNV	exon21	c.G3734A	p.R1245Q	QTCGHGGRMSRTRFIIMPTQGEGRP	QTCGHGGRMSRTQFIIMPTQGEGRP	2.0	5.0	-	-	4235_2:138400076-138400076 G>A_QTCGHGGRMSRTQFIIMPTQGEGRP
3:164906044-164906044 C>A	0.0	4235	RECTAL	-	-	-	-	SLITRK3	uc003fej.4,p.G859W|uc021xgy.1,p.G859W|NM_014926,p.G859W|uc003fek.3,p.G859W|ENST00000241274,p.G859W|ENST00000475390,p.G859W	protein_coding	uc021xgy.1	nonsynonymous SNV	exon1	c.G2575T	p.G859W	SGVVGGTGGDLAGFRHHEKNGGVVL	SGVVGGTGGDLAWFRHHEKNGGVVL	1.0	7.0	-	-	4235_3:164906044-164906044 C>A_SGVVGGTGGDLAWFRHHEKNGGVVL
8:88885470-88885470 G>A	0.0	4235	RECTAL	-	-	-	-	DCAF4L2	ENST00000319675,p.R244C|uc003ydz.3,p.R244C|NM_152418,p.R244C	protein_coding	uc003ydz.3	nonsynonymous SNV	exon1	c.C730T	p.R244C	FAIMTPLLFNGCRSGEIFGIDLRCG	FAIMTPLLFNGCCSGEIFGIDLRCG	1.0	2.0	-	-	4235_8:88885470-88885470 G>A_FAIMTPLLFNGCCSGEIFGIDLRCG
8:57079727-57079727 C>T	0.0	4235	RECTAL	-	-	-	1	PLAG1	NM_001114635,p.R111Q|uc010lyj.3,p.R111Q|uc003xsq.4,p.R193Q|uc022aur.1,p.R111Q|NM_001114634,p.R193Q|ENST00000429357,p.R193Q|uc010lyi.3,p.R193Q|ENST00000316981,p.R193Q|NM_002655,p.R193Q|ENST00000423799,p.R111Q|uc003xsr.4,p.R193Q	retained_intron, protein_coding, processed_transcript	uc022aur.1	nonsynonymous SNV	exon1	c.G332A	p.R111Q	KEKKHQCEHCDRRFYTRKDVRRHMV	KEKKHQCEHCDRQFYTRKDVRRHMV	5.0	2.0	-	-	4235_8:57079727-57079727 C>T_KEKKHQCEHCDRQFYTRKDVRRHMV
5:140869936-140869936 C>T	0.0	4235	RECTAL	0.0	-	-	-	PCDHGC5	NM_032407,p.R377W|uc011dbc.2,p.R377W|ENST00000252087,p.R377W|NM_018929,p.R377W|uc003lla.2,p.R377W	protein_coding	uc011dbc.2	nonsynonymous SNV	exon1	c.C1129T	p.R377W	VGTVVGLFNVRDRDSGRNGEVSLDI	VGTVVGLFNVRDWDSGRNGEVSLDI	3.0	9.0	-	-	4235_5:140869936-140869936 C>T_VGTVVGLFNVRDWDSGRNGEVSLDI
8:118183312-118183312 T>G	0.0	4235	RECTAL	-	-	-	-	SLC30A8	ENST00000519688,p.L241R|ENST00000427715,p.L241R|ENST00000456015,p.L290R|NM_001172814,p.L241R|NM_173851,p.L290R|uc011lia.2,p.L241R|NM_001172813,p.L241R|uc003yog.3,p.L241R|ENST00000521243,p.L241R|uc022bab.1,p.L241R|NM_001172815,p.L241R|NM_001172811,p.L241R|uc003yoh.3,p.L290R|uc010mcz.3,p.L241R	retained_intron, protein_coding, processed_transcript	uc022bab.1	nonsynonymous SNV	exon8	c.T722G	p.L241R	VPKSLNYSGVKELILAVDGVLSVHS	VPKSLNYSGVKERILAVDGVLSVHS	1.0	4.0	-	-	4235_8:118183312-118183312 T>G_VPKSLNYSGVKERILAVDGVLSVHS
11:6220991-6220991 G>A	0.0	4235	RECTAL	-	-	-	-	OR52W1	uc010qzz.2,p.G180S|NM_001005178,p.G180S|ENST00000311352,p.G180S	protein_coding	uc010qzz.2	nonsynonymous SNV	exon1	c.G538A	p.G180S	VAKFEHFQAKTIGHTYCAHMAVVEL	VAKFEHFQAKTISHTYCAHMAVVEL	1.0	7.0	-	-	4235_11:6220991-6220991 G>A_VAKFEHFQAKTISHTYCAHMAVVEL
4:52861143-52861143 G>A	0.0	4235	RECTAL	-	-	-	-	LRRC66	uc003gzi.3,p.A682V|NM_001024611,p.A682V|ENST00000343457,p.A682V	protein_coding	uc003gzi.3	nonsynonymous SNV	exon4	c.C2045T	p.A682V	PPRWDSGLDVTPANKEPVQKSTPSD	PPRWDSGLDVTPVNKEPVQKSTPSD	4.0	5.0	-	-	4235_4:52861143-52861143 G>A_PPRWDSGLDVTPVNKEPVQKSTPSD
1:196918731-196918731 C>T	0.0	4235	RECTAL	-	-	-	-	CFHR2	ENST00000367415,p.R69C|ENST00000367421,p.R69C|NM_005666,p.R69C|uc001gtq.1,p.R69C	protein_coding, processed_transcript	uc001gtq.1	nonsynonymous SNV	exon2	c.C205T	p.R69C	YNFVSPSKSFWTRITCAEEGWSPTP	YNFVSPSKSFWTCITCAEEGWSPTP	1.0	5.0	-	-	4235_1:196918731-196918731 C>T_YNFVSPSKSFWTCITCAEEGWSPTP
3:195507653-195507653 G>A	0.0	4235	RECTAL	-	-	-	2	MUC4	ENST00000479406,p.P3600S|ENST00000477756,p.P3600S|NM_018406,p.P3600S|ENST00000478156,p.P3600S|ENST00000470451,p.P3600S|ENST00000462323,p.P3600S|uc021xjp.1,p.P3600S|ENST00000477086,p.P3600S|ENST00000463781,p.P3600S|ENST00000480843,p.P3600S|ENST00000475231,p.P3600S|ENST00000466475,p.P3600S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C10798T	p.P3600S	TDASSVSTGHATPLPVTDTSSASTG	TDASSVSTGHATSLPVTDTSSASTG	7.0	7.0	unscreened	-	4235_3:195507653-195507653 G>A_TDASSVSTGHATSLPVTDTSSASTG
2:109746315-109746315 G>A	0.0	4235	RECTAL	-	-	-	-	SH3RF3	ENST00000309415,p.E107K|ENST00000418513,p.E107K|uc010ywt.1,p.E107K|NM_001099289,p.E107K	protein_coding	uc010ywt.1	nonsynonymous SNV	exon1	c.G319A	p.E107K	PECRILVGCGVDELPANILLVRLLD	PECRILVGCGVDKLPANILLVRLLD	4.0	6.0	-	-	4235_2:109746315-109746315 G>A_PECRILVGCGVDKLPANILLVRLLD
2:127950795-127950795 G>A	0.0	4235	RECTAL	-	-	-	-	CYP27C1	ENST00000409327,p.R293C|NM_001001665,p.R293C|uc021vnn.1,p.R293C|uc002tod.2,p.R293C|ENST00000335247,p.R293C	protein_coding	uc021vnn.1	nonsynonymous SNV	exon7	c.C877T	p.R293C	ENFPRAKEFRPERWLRKGDLDRVDN	ENFPRAKEFRPECWLRKGDLDRVDN	1.0	5.0	-	-	4235_2:127950795-127950795 G>A_ENFPRAKEFRPECWLRKGDLDRVDN
1:62739440-62739440 C>T	0.0	4235	RECTAL	-	-	-	-	KANK4	ENST00000371153,p.G446R|NM_181712,p.G446R|uc001dah.4,p.G446R	protein_coding	uc001dah.4	nonsynonymous SNV	exon3	c.G1336A	p.G446R	VNLLGSMESESWGHRGEENGLLWGP	VNLLGSMESESWRHRGEENGLLWGP	2.0	7.0	-	-	4235_1:62739440-62739440 C>T_VNLLGSMESESWRHRGEENGLLWGP
6:130376350-130376350 C>T	0.0	4235	RECTAL	0.0	-	ID=COSM1311549;OCCURENCE=1(urinary_tract)	-	L3MBTL3	uc003qbu.3,p.S181L|ENST00000529410,p.S206L|ENST00000526019,p.S181L|NM_032438,p.S206L|ENST00000361794,p.S206L|NM_001007102,p.S181L|ENST00000368136,p.S206L|uc003qbt.3,p.S206L|ENST00000368139,p.S181L|ENST00000533560,p.S181L	retained_intron, protein_coding	uc003qbu.3	nonsynonymous SNV	exon7	c.C542T	p.S181L	MENKQDVRILRGSQRARRKRRGDSA	MENKQDVRILRGLQRARRKRRGDSA	1.0	3.0	-	-	4235_6:130376350-130376350 C>T_MENKQDVRILRGLQRARRKRRGDSA
11:89774582-89774582 G>A	0.0	4235	RECTAL	-	-	-	-	TRIM49C	ENST00000448984,p.R408Q|uc010rua.2,p.R408Q|NM_001195234,p.R408Q	protein_coding	uc010rua.2	nonsynonymous SNV	exon8	c.G1223A	p.R408Q	PLMLQYIPKPTSRVGLFLDCEAKTV	PLMLQYIPKPTSQVGLFLDCEAKTV	1.0	7.0	-	-	4235_11:89774582-89774582 G>A_PLMLQYIPKPTSQVGLFLDCEAKTV
12:29542734-29542734 G>A	0.0	4235	RECTAL	-	-	-	-	OVCH1-AS1	ENST00000551108,p.R99Q|uc031qgu.1,p.R99Q|uc031qgv.1,p.R99Q|uc031qgw.1,p.R99Q	protein_coding, processed_transcript	uc031qgw.1	nonsynonymous SNV	exon1	c.G296A	p.R99Q	IRFPGDHSVAIGRDRPSPDDNGQRP	IRFPGDHSVAIGQDRPSPDDNGQRP	1.0	2.0	unscreened	-	4235_12:29542734-29542734 G>A_IRFPGDHSVAIGQDRPSPDDNGQRP
17:26708580-26708580 T>G	0.0	4235	RECTAL	-	-	-	-	SARM1	uc010wah.1,p.V297G|ENST00000509083,p.V297G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wah.1	nonsynonymous SNV	exon6	c.T890G	p.V297G	AAFAARLPRSSGVGD	AAFAARLPRSSGGGD	8.0	8.0	unscreened	-	4235_17:26708580-26708580 T>G_AAFAARLPRSSGGGD
17:7386234-7386234 G>A	0.0	4235	RECTAL	-	rs200251320	-	-	SLC35G6	uc010cmj.1,p.V311M|ENST00000412468,p.V311M|NM_001102614,p.V311M	protein_coding	uc010cmj.1	nonsynonymous SNV	exon2	c.G931A	p.V311M	YMLHETVAPSDIVGAGVVLGSIAII	YMLHETVAPSDIMGAGVVLGSIAII	1.0	4.0	unscreened	-	4235_17:7386234-7386234 G>A_YMLHETVAPSDIMGAGVVLGSIAII
X:48049693-48049693 C>A	0.0	4235	RECTAL	-	-	-	-	SSX5	uc004diz.1,p.E155D|NM_021015,p.E155D|ENST00000376923,p.E114D|uc004dja.1,p.E114D|NM_175723,p.E114D|ENST00000311798,p.E155D|ENST00000403001,p.E54D|ENST00000347757,p.E114D	protein_coding	uc004dja.1	nonsynonymous SNV	exon6	c.G342T	p.E114D	GRLQGIFPKITPEKPAEEGNDSKGV	GRLQGIFPKITPDKPAEEGNDSKGV	1.0	7.0	-	-	4235_X:48049693-48049693 C>A_GRLQGIFPKITPDKPAEEGNDSKGV
12:25054798-25054798 C>T	0.0	4235	RECTAL	-	-	-	-	BCAT1	ENST00000539282,p.A22T|uc010six.2,p.A22T|NM_001178093,p.A22T	protein_coding, processed_transcript	uc010six.2	nonsynonymous SNV	exon2	c.G64A	p.A22T	ALARQDCSNGCSAECTGEGGSKEVV	ALARQDCSNGCSTECTGEGGSKEVV	5.0	8.0	-	-	4235_12:25054798-25054798 C>T_ALARQDCSNGCSTECTGEGGSKEVV
12:25054798-25054798 C>T	0.0	4235	RECTAL	-	-	-	-	BCAT1	ENST00000538118,p.A9T|NM_001178094,p.A9T|uc001rgc.3,p.A9T	protein_coding, processed_transcript	uc001rgc.3	nonsynonymous SNV	exon2	c.G25A	p.A9T	MDCSNGCSAECTGEGGSKEVV	MDCSNGCSTECTGEGGSKEVV	5.0	8.0	-	-	4235_12:25054798-25054798 C>T_MDCSNGCSTECTGEGGSKEVV
12:25054798-25054798 C>T	0.0	4235	RECTAL	-	-	-	-	BCAT1	uc001rgd.4,p.A10T|NM_001178091,p.A10T|ENST00000539780,p.A10T|uc010siy.2,p.A10T|ENST00000261192,p.A10T|NM_005504,p.A10T	protein_coding, processed_transcript	uc010siy.2	nonsynonymous SNV	exon2	c.G28A	p.A10T	MKDCSNGCSAECTGEGGSKEVV	MKDCSNGCSTECTGEGGSKEVV	5.0	8.0	-	-	4235_12:25054798-25054798 C>T_MKDCSNGCSTECTGEGGSKEVV
8:124382158-124382158 ->TCATCA	0.0	4235	RECTAL	-	-	-	-	ATAD2	uc003yqh.4,p.E278delinsDDE|uc003yqj.3,p.E278delinsDDE|NM_014109,p.E278delinsDDE|ENST00000287394,p.E278delinsDDE|uc011lii.2,p.E69delinsDDE	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lii.2	nonframeshift insertion	exon7	c.206_207insTGATGA	p.E69delinsDDE	DDDDDDDDDDDDEDDEDEEDGEEEN	DDDDDDDDDDDDDDEDDEDEEDGEE	9.0	2.0	unscreened	-	4235_8:124382158-124382158 ->TCATCA_DDDDDDDDDDDDDDEDDEDEEDGEE
2:109746315-109746315 G>A	0.0	4235	RECTAL	-	-	-	-	SH3RF3	uc021vlv.1,p.S6L	protein_coding	uc021vlv.1	nonsynonymous SNV	exon1	c.C17T	p.S6L	MLAGSSSTPQPTRMRHSG	MLAGSLSTPQPTRMRHSG	4.0	6.0	-	-	4235_2:109746315-109746315 G>A_MLAGSLSTPQPTRMRHSG
19:14164439-14164439 C>T	0.0	4235	RECTAL	-	-	-	-	PALM3	NM_001145028,p.C667Y|uc010xnk.1,p.C667Y|ENST00000340790,p.C667Y	retained_intron, protein_coding	uc010xnk.1	nonsynonymous SNV	exon6	c.G2000A	p.C667Y	EGEEASGPKQKTCQCCAVM	EGEEASGPKQKTYQCCAVM	4.0	4.0	-	-	4235_19:14164439-14164439 C>T_EGEEASGPKQKTYQCCAVM
7:18630033-18630033 G>C	0.0	4235	RECTAL	-	-	-	-	HDAC9	uc003sue.3,p.R110S|ENST00000406451,p.R110S|uc011jya.2,p.R152S|NM_001204146,p.R113S|ENST00000432645,p.R110S|NM_001204148,p.R82S|uc003sud.2,p.R110S|ENST00000428307,p.R110S|NM_178423,p.R110S|uc011jyf.2,p.R79S|ENST00000441986,p.R79S|NM_001204145,p.R110S|ENST00000406072,p.R141S|uc011jyc.2,p.R113S|uc011jye.2,p.R82S|uc003suh.3,p.R110S|ENST00000413509,p.R113S|uc010kud.2,p.R113S|NM_178425,p.R113S|ENST00000417496,p.R152S|uc003sua.1,p.R132S|uc011jyd.2,p.R110S|ENST00000413380,p.R113S|ENST00000405010,p.R110S|NM_001204147,p.R79S|uc003sui.3,p.R113S|uc011jyb.2,p.R110S|uc003suj.3,p.R113S|ENST00000401921,p.R113S|ENST00000524023,p.R79S|ENST00000456174,p.R82S|NM_058176,p.R110S|ENST00000441542,p.R113S|NM_014707,p.R110S|uc003suf.2,p.R141S|NM_001204144,p.R152S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011jyf.2	nonsynonymous SNV	exon3	c.G237C	p.R79S	ELLEKEQKLEQQRQEQEVERHRREQ	ELLEKEQKLEQQSQEQEVERHRREQ	6.0	5.0	-	-	4235_7:18630033-18630033 G>C_ELLEKEQKLEQQSQEQEVERHRREQ
10:135085064-135085064 G>A	0.0	4235	RECTAL	-	-	-	-	ADAM8	uc021qbe.1,p.R418C|uc009ybi.3,p.R418C|NM_001164489,p.R418C|ENST00000485491,p.R379C|ENST00000445355,p.R418C|NM_001109,p.R418C|uc010qva.2,p.R379C|NM_001164490,p.R379C|ENST00000415217,p.R418C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qbe.1	nonsynonymous SNV	exon12	c.C1252T	p.R418C	VGGPVCGNLFVERGEQCDCGPPEDC	VGGPVCGNLFVECGEQCDCGPPEDC	7.0	3.0	-	-	4235_10:135085064-135085064 G>A_VGGPVCGNLFVECGEQCDCGPPEDC
14:58033258-58033258 C>G	0.0	4235	RECTAL	-	-	-	-	SLC35F4	ENST00000339762,p.G420A|NM_001206920,p.G383A|uc021rtp.1,p.G383A|ENST00000554729,p.G261A|uc010apa.1,p.G261A|ENST00000556826,p.G384A	protein_coding, processed_transcript, nonsense_mediated_decay	uc021rtp.1	nonsynonymous SNV	exon7	c.G1148C	p.G383A	GLWLAFNILVNVGVVLTYPILISIG	GLWLAFNILVNVAVVLTYPILISIG	1.0	6.0	-	-	4235_14:58033258-58033258 C>G_GLWLAFNILVNVAVVLTYPILISIG
20:30522508-30522508 C>T	0.0	4235	RECTAL	-	-	-	-	TTLL9	ENST00000375934,p.R242C	protein_coding	ENST00000375934	nonsynonymous SNV	exon10	c.C724T	p.R242C	LPTTTQRRAASGRCSASGSTWRPNT	LPTTTQRRAASGCCSASGSTWRPNT	3.0	3.0	-	-	4235_20:30522508-30522508 C>T_LPTTTQRRAASGCCSASGSTWRPNT
14:95932330-95932330 C>T	0.0	4235	RECTAL	0.0005	-	-	-	SYNE3	uc001yej.1,p.V189M|uc010avi.3,p.V189M|ENST00000557275,p.V189M|ENST00000553340,p.V189M|uc001yei.4,p.V189M|ENST00000334258,p.V189M|NM_152592,p.V189M	retained_intron, protein_coding	uc010avi.3	nonsynonymous SNV	exon3	c.G565A	p.V189M	AASLFNRIGDPSVDEDAQKRMKAEY	AASLFNRIGDPSMDEDAQKRMKAEY	4.0	6.0	-	-	4235_14:95932330-95932330 C>T_AASLFNRIGDPSMDEDAQKRMKAEY
4:164054368-164054368 T>G	0.0	4235	RECTAL	-	-	-	-	NAF1	uc003iqj.3,p.K324T|ENST00000274054,p.K324T|ENST00000422287,p.K324T|uc010iqw.1,p.K324T|NM_001128931,p.K324T|NM_138386,p.K324T	retained_intron, protein_coding	uc010iqw.1	nonsynonymous SNV	exon7	c.A971C	p.K324T	LDFSDDEKEKEAKQRKKSQIQGRKK	LDFSDDEKEKEATQRKKSQIQGRKK	5.0	6.0	-	-	4235_4:164054368-164054368 T>G_LDFSDDEKEKEATQRKKSQIQGRKK
15:52500823-52500824 AA>-	0.0	4235	RECTAL	-	-	-	-	MYO5C	NM_018728,p.F1438fs|ENST00000261839,p.F1438fs|uc010bff.3,p.F1438fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bff.3	frameshift deletion	exon36	c.4313_4314del	p.F1438fs	GIKQVVKEHLEDFEMLSFWLSNTCH	GIKQVVKEHLED	9.0	1.0	unscreened	-	4235_15:52500823-52500824 AA>-_GIKQVVKEHLED
10:72636359-72636359 G>T	1.0	4237	ADENOCARCINOMA	-	-	-	-	SGPL1	uc001jrm.3,p.D503Y|ENST00000373202,p.D503Y|NM_003901,p.D503Y	protein_coding, processed_transcript	uc001jrm.3	nonsynonymous SNV	exon14	c.G1507T	p.D503Y	HARKRVAIQFLKDIRESVTQIMKNP	HARKRVAIQFLKYIRESVTQIMKNP	8.0	3.0	-	-	4237_10:72636359-72636359 G>T_HARKRVAIQFLKYIRESVTQIMKNP
X:23803495-23803495 A>T	1.0	4237	ADENOCARCINOMA	-	-	-	-	SAT1	uc004dau.3,p.I85F|ENST00000379254,p.I57F|NM_002970,p.I85F|ENST00000379270,p.I85F	protein_coding, processed_transcript	uc004dau.3	nonsynonymous SNV	exon4	c.A253T	p.I85F	GFAMYYFTYDPWIGKLLYLEDFFVM	GFAMYYFTYDPWFGKLLYLEDFFVM	10.0	4.0	-	-	4237_X:23803495-23803495 A>T_GFAMYYFTYDPWFGKLLYLEDFFVM
3:45537817-45537817 A>T	1.0	4237	ADENOCARCINOMA	-	-	-	-	LARS2	NM_015340,p.D525V|ENST00000415258,p.D525V|ENST00000414984,p.D482V|uc003cop.1,p.D525V|ENST00000265537,p.D525V|uc010hit.1,p.D482V	protein_coding, processed_transcript	uc010hit.1	nonsynonymous SNV	exon12	c.A1445T	p.D482V	AKRETDTMDTFVDSAWYYFRYTDPH	AKRETDTMDTFVVSAWYYFRYTDPH	7.0	2.0	-	-	4237_3:45537817-45537817 A>T_AKRETDTMDTFVVSAWYYFRYTDPH
19:1109340-1109340 C>G	1.0	4237	ADENOCARCINOMA	-	-	-	-	SBNO2	ENST00000438103,p.R1043P|ENST00000587024,p.R1090P|ENST00000361757,p.R1100P|uc002lrj.4,p.R1043P|uc002lrk.4,p.R1100P|uc010dse.3,p.R1083P|NM_014963,p.R1100P|NM_001100122,p.R1043P	retained_intron, protein_coding	uc010dse.3	nonsynonymous SNV	exon29	c.G3248C	p.R1083P	GQFFTVYKPNIGRQSQLEALDSLRR	GQFFTVYKPNIGPQSQLEALDSLRR	10.0	2.0	-	-	4237_19:1109340-1109340 C>G_GQFFTVYKPNIGPQSQLEALDSLRR
7:55242465-55242479 GGAATTAAGAGAAGC>-	1.0	4237	ADENOCARCINOMA	-	-	ID=COSM6223;OCCURENCE=894(lung),2(thyroid),3(upper_aerodigestive_tract),1(oesophagus),2(ovary),4(salivary_gland)	1	EGFR	uc003tqk.3,p.745_750del|uc010kzg.2,p.700_705del|ENST00000455089,p.700_705del|ENST00000454757,p.692_697del|NM_005228,p.745_750del|uc022adm.1,p.745_750del|uc022adn.1,p.700_705del|uc011kco.2,p.692_697del|ENST00000275493,p.745_750del	retained_intron, protein_coding, processed_transcript	uc022adn.1	nonframeshift deletion	exon18	c.2100_2114del	p.700_705del	PEGEKVKIPVAIKELREATSPKANKE	PEGEKVKIPVAIKTSPKANKEILDE	10.0	10.0	-	-	4237_7:55242465-55242479 GGAATTAAGAGAAGC>-_PEGEKVKIPVAIKTSPKANKEILDE
19:21300212-21300212 G>T	1.0	4237	ADENOCARCINOMA	-	-	-	-	ZNF714	ENST00000600435,p.V248L|ENST00000596143,p.V248L|uc002npl.3,p.V94L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002npl.3	nonsynonymous SNV	exon5	c.G280T	p.V94L	AFYHSSHLTTHKVIHTGEKPFKCEE	AFYHSSHLTTHKLIHTGEKPFKCEE	7.0	5.0	unscreened	-	4237_19:21300212-21300212 G>T_AFYHSSHLTTHKLIHTGEKPFKCEE
17:15532492-15532492 C>G	1.0	4237	ADENOCARCINOMA	-	-	-	-	TRIM16	ENST00000416464,p.D248H|ENST00000577886,p.D162H|ENST00000578237,p.D378H|ENST00000455584,p.D378H|NM_006470,p.D378H|uc002gox.3,p.D378H|ENST00000577446,p.D131H|uc002gow.3,p.D162H|uc002gor.1,p.D378H|ENST00000336708,p.D378H|uc002goy.3,p.D248H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002goy.3	nonsynonymous SNV	exon7	c.G742C	p.D248H	EQFLQYAYDITFDPDTAHKYLRLQE	EQFLQYAYDITFHPDTAHKYLRLQE	8.0	6.0	-	-	4237_17:15532492-15532492 C>G_EQFLQYAYDITFHPDTAHKYLRLQE
6:110064361-110064361 T>A	1.0	4237	ADENOCARCINOMA	-	-	-	-	FIG4	uc003ptt.2,p.S309T|ENST00000230124,p.S309T|NM_014845,p.S309T	protein_coding	uc003ptt.2	nonsynonymous SNV	exon9	c.T925A	p.S309T	NEVETEQILCDASVMSFTAGSYSSY	NEVETEQILCDATVMSFTAGSYSSY	7.0	8.0	-	-	4237_6:110064361-110064361 T>A_NEVETEQILCDATVMSFTAGSYSSY
9:116931565-116931565 C>T	1.0	4237	ADENOCARCINOMA	-	-	-	-	COL27A1	ENST00000451716,p.P524L|NM_032888,p.P577L|ENST00000356083,p.P577L|uc011lxl.2,p.P577L|uc010mvd.2,p.P427L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lxl.2	nonsynonymous SNV	exon3	c.C1730T	p.P577L	DVPLSDLTTRPSPRQPQPSQQTTPA	DVPLSDLTTRPSLRQPQPSQQTTPA	7.0	3.0	-	-	4237_9:116931565-116931565 C>T_DVPLSDLTTRPSLRQPQPSQQTTPA
1:55183169-55183169 G>T	1.0	4237	ADENOCARCINOMA	-	-	-	-	TTC4	ENST00000414150,p.R1314M	retained_intron, protein_coding	ENST00000414150	nonsynonymous SNV	exon26	c.G3941T	p.R1314M	QLFLMRSVLQKNRPRPIKMRAMITL	QLFLMRSVLQKNMPRPIKMRAMITL	8.0	6.0	unscreened	-	4237_1:55183169-55183169 G>T_QLFLMRSVLQKNMPRPIKMRAMITL
1:55183170-55183170 G>T	1.0	4237	ADENOCARCINOMA	-	-	-	-	TTC4	ENST00000414150,p.R1314S	retained_intron, protein_coding	ENST00000414150	nonsynonymous SNV	exon26	c.G3942T	p.R1314S	QLFLMRSVLQKNRPRPIKMRAMITL	QLFLMRSVLQKNSPRPIKMRAMITL	8.0	6.0	unscreened	-	4237_1:55183170-55183170 G>T_QLFLMRSVLQKNSPRPIKMRAMITL
6:31608011-31608011 C>T	1.0	4237	ADENOCARCINOMA	-	-	-	-	BAG6	ENST00000375976,p.A1035T|uc003nvf.4,p.A1035T|ENST00000404765,p.A1071T|NM_080703,p.A1035T|NM_080702,p.A1035T|ENST00000375964,p.A1041T|uc003nvh.4,p.A1035T|uc003nvi.4,p.A1035T|NM_004639,p.A1041T|uc003nvg.4,p.A1041T|ENST00000211379,p.A1035T|NM_001098534,p.A1035T	retained_intron, protein_coding, processed_transcript	uc003nvi.4	nonsynonymous SNV	exon23	c.G3103A	p.A1035T	QRKVKPQPPLSDAYLSGMPAKRRKT	QRKVKPQPPLSDTYLSGMPAKRRKT	10.0	7.0	-	-	4237_6:31608011-31608011 C>T_QRKVKPQPPLSDTYLSGMPAKRRKT
6:31608011-31608011 C>T	1.0	4237	ADENOCARCINOMA	-	-	-	-	BAG6	ENST00000362049,p.A1035T|NM_001199697,p.A861T|uc011dnw.2,p.A1035T|uc011dnx.2,p.A861T|NM_001199698,p.A1035T|ENST00000439687,p.A861T	retained_intron, protein_coding, processed_transcript	uc011dnx.2	nonsynonymous SNV	exon22	c.G2581A	p.A861T	QRKVKPQPPLSDAYLSGMPAKRRKL	QRKVKPQPPLSDTYLSGMPAKRRKL	10.0	7.0	-	-	4237_6:31608011-31608011 C>T_QRKVKPQPPLSDTYLSGMPAKRRKL
3:126736592-126736592 G>A	1.0	4237	ADENOCARCINOMA	-	-	-	-	PLXNA1	ENST00000251772,p.G1150S|ENST00000393409,p.G1173S|NM_032242,p.G1173S|uc003ejg.3,p.G1173S	retained_intron, protein_coding, processed_transcript	uc003ejg.3	nonsynonymous SNV	exon18	c.G3517A	p.G1173S	LELKPSSPLILKGRNLLPPAPGNSR	LELKPSSPLILKSRNLLPPAPGNSR	9.0	10.0	-	-	4237_3:126736592-126736592 G>A_LELKPSSPLILKSRNLLPPAPGNSR
17:29664892-29664892 C>T	1.0	4237	ADENOCARCINOMA	-	-	-	1	NF1	uc010cso.3,p.A421V|ENST00000358273,p.A2233V|ENST00000456735,p.A1878V|NM_000267,p.A2212V|ENST00000356175,p.A2212V|uc002hgg.3,p.A2233V|NM_001042492,p.A2233V|uc002hgh.3,p.A2212V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cso.3	nonsynonymous SNV	exon9	c.C1262T	p.A421V	PTCKWLDQWTELAQRFAFQYNPSLQ	PTCKWLDQWTELVQRFAFQYNPSLQ	8.0	8.0	-	-	4237_17:29664892-29664892 C>T_PTCKWLDQWTELVQRFAFQYNPSLQ
19:58213405-58213405 G>T	1.0	4237	ADENOCARCINOMA	-	-	-	-	ZNF154	ENST00000451275,p.S304R|ENST00000512439,p.S304R|uc010euf.3,p.S304R|ENST00000426889,p.S304R|NM_001085384,p.S304R	protein_coding, nonsense_mediated_decay	uc010euf.3	nonsynonymous SNV	exon3	c.C912A	p.S304R	QKVHSGSRPYECSECGKSFSQNSSL	QKVHSGSRPYECRECGKSFSQNSSL	6.0	8.0	unscreened	-	4237_19:58213405-58213405 G>T_QKVHSGSRPYECRECGKSFSQNSSL
9:131513469-131513469 G>A	1.0	4237	ADENOCARCINOMA	-	-	-	-	ZER1	uc004bwa.2,p.R373W|NM_006336,p.R373W|ENST00000291900,p.R373W	protein_coding, processed_transcript	uc004bwa.2	nonsynonymous SNV	exon7	c.C1117T	p.R373W	EAYTEHRPEITSRAINLLFDIARIE	EAYTEHRPEITSWAINLLFDIARIE	9.0	6.0	-	-	4237_9:131513469-131513469 G>A_EAYTEHRPEITSWAINLLFDIARIE
17:80053333-80053333 G>A	1.0	4237	ADENOCARCINOMA	-	-	-	-	FASN	uc002kdu.3,p.P48L|ENST00000306749,p.P48L|NM_004104,p.P48L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kdu.3	nonsynonymous SNV	exon3	c.C143T	p.P48L	DDRRWKAGLYGLPRRSGKLKDLSRF	DDRRWKAGLYGLLRRSGKLKDLSRF	10.0	5.0	-	-	4237_17:80053333-80053333 G>A_DDRRWKAGLYGLLRRSGKLKDLSRF
17:55068499-55068499 ->T	0.0	4237	ADENOCARCINOMA	-	-	-	-	SCPEP1	ENST00000572591,p.G105fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000572591	frameshift insertion	exon4	c.316dupT	p.G105fs	PFSEGPSSATLRGLPWVIPGSPLLI	PFSEGPSSATLRGFALGDSWISPVDSVLSWGPYLYSMSLLEDKGLAEVSKVAEQVL	10.0	2.0	unscreened	-	4237_17:55068499-55068499 ->T_PFSEGPSSATLRGFALGDSWISPVDSVLSWGPYLYSMSLLEDKGLAEVSKVAEQVL
7:7278125-7278125 G>A	1.0	4237	ADENOCARCINOMA	-	-	-	-	C1GALT1	uc003srb.3,p.V154I|uc010kto.2,p.V154I|ENST00000402468,p.V154I|uc003sra.4,p.V154I|ENST00000223122,p.V154I|NM_020156,p.V154I|ENST00000436587,p.V154I	retained_intron, protein_coding, processed_transcript	uc010kto.2	nonsynonymous SNV	exon2	c.G460A	p.V154I	QLYWKTIKAFQYVHEHYLEDADWFL	QLYWKTIKAFQYIHEHYLEDADWFL	10.0	6.0	-	-	4237_7:7278125-7278125 G>A_QLYWKTIKAFQYIHEHYLEDADWFL
10:3207437-3207437 C>G	1.0	4237	ADENOCARCINOMA	-	-	-	-	PITRM1	uc010qah.2,p.G176A|ENST00000380989,p.G208A|NM_014889,p.G208A|uc010qai.2,p.G179A|NM_001242307,p.G208A|ENST00000224949,p.G208A|uc001igu.1,p.G200A|uc001igr.2,p.G208A|ENST00000451104,p.G176A|uc001igt.2,p.G208A|NM_001242309,p.G176A|uc009xhv.2,p.G208A	protein_coding, processed_transcript	uc010qai.2	nonsynonymous SNV	exon7	c.G536C	p.G179A	LVFKGVVFNEMKGAFTDNERIFSQH	LVFKGVVFNEMKAAFTDNERIFSQH	9.0	9.0	-	-	4237_10:3207437-3207437 C>G_LVFKGVVFNEMKAAFTDNERIFSQH
1:220236275-220236275 C>T	1.0	4237	ADENOCARCINOMA	-	-	-	-	BPNT1	uc010puh.2,p.G130R|NM_001286149,p.G111R|uc001hma.3,p.G166R|NM_001286151,p.G111R|ENST00000469520,p.G166R|NM_001286150,p.G130R|uc010pug.2,p.G111R|NM_006085,p.G166R|ENST00000322067,p.G166R|ENST00000414869,p.G130R|ENST00000544404,p.G111R|ENST00000463953,p.G130R	retained_intron, protein_coding, processed_transcript	uc010puh.2	nonsynonymous SNV	exon6	c.G388A	p.G130R	YYNYEAGPDAVLGRTIWGVLGLGAF	YYNYEAGPDAVLRRTIWGVLGLGAF	9.0	5.0	CD8	-	4237_1:220236275-220236275 C>T_YYNYEAGPDAVLRRTIWGVLGLGAF
7:55249071-55249071 C>T	1.0	4237	ADENOCARCINOMA	-	-	ID=COSM6240;OCCURENCE=1(biliary_tract),1(large_intestine),1(soft_tissue),341(lung),2(upper_aerodigestive_tract),1(central_nervous_system)	1	EGFR	uc011kco.2,p.T737M|uc022ado.1,p.T25M|ENST00000275493,p.T790M|uc010kzg.2,p.T745M|ENST00000454757,p.T737M|ENST00000455089,p.T745M|NM_005228,p.T790M|uc022adm.1,p.T790M|uc003tqk.3,p.T790M|uc022adn.1,p.T745M	retained_intron, protein_coding, processed_transcript	uc022ado.1	nonsynonymous SNV	exon1	c.C74T	p.T25M	LGICLTSTVQLITQLMPFGCLLDYV	LGICLTSTVQLIMQLMPFGCLLDYV	10.0	8.0	-	-	4237_7:55249071-55249071 C>T_LGICLTSTVQLIMQLMPFGCLLDYV
22:39714587-39714587 T>C	1.0	4237	ADENOCARCINOMA	-	-	-	-	RPL3	ENST00000453303,p.K32R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000453303	nonsynonymous SNV	exon2	c.A95G	p.K32R	IWLCGVLWPSHRKFSAPRHGSLGFL	IWLCGVLWPSHRRFSAPRHGSLGFL	10.0	9.0	unscreened	-	4237_22:39714587-39714587 T>C_IWLCGVLWPSHRRFSAPRHGSLGFL
5:140554097-140554097 G>A	1.0	4237	ADENOCARCINOMA	-	-	ID=COSM1434237;OCCURENCE=1(large_intestine)	-	PCDHB7	ENST00000231137,p.V561M|uc003lit.3,p.V561M|NM_018940,p.V561M	protein_coding	uc003lit.3	nonsynonymous SNV	exon1	c.G1681A	p.V561M	VLVLDANDNSPFVLYPLQNSSAPCT	VLVLDANDNSPFMLYPLQNSSAPCT	6.0	7.0	-	-	4237_5:140554097-140554097 G>A_VLVLDANDNSPFMLYPLQNSSAPCT
9:90586213-90586213 C>A	1.0	4237	ADENOCARCINOMA	-	-	-	-	CDK20	NM_012119,p.G76V|ENST00000336654,p.G89V|NM_001039803,p.G76V|ENST00000605159,p.G76V|uc004apt.3,p.G89V|ENST00000375883,p.G76V|uc004aps.3,p.G76V|uc022bjj.1,p.G76V|NM_178432,p.G89V|ENST00000325303,p.G76V|NM_001170640,p.G76V|ENST00000375871,p.G76V|uc004apu.3,p.G76V|uc004apr.3,p.G76V|NM_001170639,p.G76V	protein_coding, processed_transcript	uc022bjj.1	nonsynonymous SNV	exon3	c.G227T	p.G76V	VVQLKAVFPHGGGFVLAFEFMLSDL	VVQLKAVFPHGGVFVLAFEFMLSDL	6.0	1.0	-	-	4237_9:90586213-90586213 C>A_VVQLKAVFPHGGVFVLAFEFMLSDL
19:20308690-20308690 G>T	1.0	4237	ADENOCARCINOMA	-	-	-	-	ZNF486	NM_052852,p.A391S|ENST00000335117,p.A391S|uc002nou.3,p.A391S	protein_coding	uc002nou.3	nonsynonymous SNV	exon4	c.G1171T	p.A391S	KCEECGKAFTWSAGLHKHRRTHTGE	KCEECGKAFTWSSGLHKHRRTHTGE	8.0	7.0	unscreened	-	4237_19:20308690-20308690 G>T_KCEECGKAFTWSSGLHKHRRTHTGE
1:220236275-220236275 C>T	1.0	4237	ADENOCARCINOMA	-	-	-	-	BPNT1	ENST00000354807,p.G181R	retained_intron, protein_coding, processed_transcript	ENST00000354807	nonsynonymous SNV	exon8	c.G541A	p.G181R	RNEAKAGPDAVLGRTIWGVLGLGAF	RNEAKAGPDAVLRRTIWGVLGLGAF	9.0	5.0	unscreened	-	4237_1:220236275-220236275 C>T_RNEAKAGPDAVLRRTIWGVLGLGAF
8:146067588-146067588 G>A	1.0	4237	ADENOCARCINOMA	-	-	-	-	ZNF7	uc011lln.2,p.E270K|uc010mge.3,p.E377K|ENST00000544249,p.E270K|ENST00000446747,p.E377K|NM_001282797,p.E270K|uc003zek.4,p.E270K|NM_001282795,p.E377K|uc003zeg.4,p.E366K|NM_003416,p.E366K|ENST00000528372,p.E366K|ENST00000325241,p.E366K	retained_intron, protein_coding, processed_transcript	uc011lln.2	nonsynonymous SNV	exon4	c.G808A	p.E270K	RTHTGERPYPCKECGKAFSQSSTLA	RTHTGERPYPCKKCGKAFSQSSTLA	8.0	9.0	-	-	4237_8:146067588-146067588 G>A_RTHTGERPYPCKKCGKAFSQSSTLA
12:27110579-27110579 T>C	1.0	4237	ADENOCARCINOMA	-	-	-	-	FGFR1OP2	ENST00000229395,p.I100T|uc001rhm.3,p.I100T|ENST00000327214,p.I100T|uc001rhl.3,p.I100T|ENST00000546072,p.I100T|uc001rhn.3,p.I100T|NM_015633,p.I100T|NM_001171888,p.I100T|NM_001171887,p.I100T	retained_intron, protein_coding	uc001rhn.3	nonsynonymous SNV	exon4	c.T299C	p.I100T	TSLEEHQSALELIMSKYREQMFRLL	TSLEEHQSALELTMSKYREQMFRLL	8.0	9.0	-	-	4237_12:27110579-27110579 T>C_TSLEEHQSALELTMSKYREQMFRLL
1:99127378-99127378 T>G	1.0	4237	ADENOCARCINOMA	-	-	-	-	SNX7	ENST00000529992,p.F31V|uc010oud.2,p.F31V|NM_015976,p.F31V|ENST00000306121,p.F31V|uc010ouc.2,p.F31V|NM_152238,p.F31V	protein_coding, processed_transcript, nonsense_mediated_decay	uc010oud.2	nonsynonymous SNV	exon1	c.T91G	p.F31V	GANGESPGGGAPFPGSSGSSALLQA	GANGESPGGGAPVPGSSGSSALLQA	7.0	10.0	-	-	4237_1:99127378-99127378 T>G_GANGESPGGGAPVPGSSGSSALLQA
1:116943771-116943771 T>C	1.0	4237	ADENOCARCINOMA	-	-	-	1	ATP1A1	uc010owx.2,p.I882T|ENST00000369496,p.I882T|ENST00000440951,p.I80T|uc010owv.1,p.I882T|NM_001160234,p.I882T|ENST00000295598,p.I913T|uc010oww.2,p.I913T|NM_001160233,p.I913T|uc001ege.3,p.I913T|NM_000701,p.I913T|ENST00000537345,p.I913T	retained_intron, protein_coding, processed_transcript	uc010owx.2	nonsynonymous SNV	exon20	c.T2645C	p.I882T	SYGQQWTYEQRKIVEFTCHTAFFVS	SYGQQWTYEQRKTVEFTCHTAFFVS	10.0	6.0	-	-	4237_1:116943771-116943771 T>C_SYGQQWTYEQRKTVEFTCHTAFFVS
22:39714587-39714587 T>C	1.0	4237	ADENOCARCINOMA	-	-	-	-	RPL3	NM_000967,p.K5R|NM_001033853,p.K5R|uc011aoj.1,p.K5R|uc003axi.3,p.K5R|uc003axh.3,p.K5R|ENST00000420536,p.K5R|ENST00000216146,p.K5R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011aoj.1	nonsynonymous SNV	exon2	c.A14G	p.K5R	MSHRKFSAPRHGSLGFL	MSHRRFSAPRHGSLGFL	10.0	9.0	-	-	4237_22:39714587-39714587 T>C_MSHRRFSAPRHGSLGFL
6:53761323-53761326 GAGA>-	1.0	4237	ADENOCARCINOMA	-	-	-	-	LRRC1	ENST00000487251,p.L158fs|NM_018214,p.L158fs|uc003pcd.1,p.L158fs|ENST00000370888,p.L158fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc003pcd.1	frameshift deletion	exon5	c.474_477del	p.L158fs	NIGNLYNLASLELRENLLTYLPDSLT	NIGNLYNLASLELRIFLHIFLTLLPSCED	7.0	9.0	-	-	4237_6:53761323-53761326 GAGA>-_NIGNLYNLASLELRIFLHIFLTLLPSCED
6:36938207-36938207 C>A	1.0	4237	ADENOCARCINOMA	-	-	-	-	MTCH1	ENST00000460219,p.D300Y|uc003onc.2,p.D316Y|ENST00000373627,p.D333Y|uc011dtt.3,p.D148Y|uc003one.5,p.D333Y|uc003ond.2,p.D333Y|ENST00000373616,p.D316Y|NM_014341,p.D316Y|NM_001271641,p.D333Y|ENST00000538808,p.D160Y	protein_coding, processed_transcript	uc011dtt.3	nonsynonymous SNV	exon9	c.G442T	p.D148Y	VSMLTYPFLLVGDLMAVNNCGLQAG	VSMLTYPFLLVGYLMAVNNCGLQAG	10.0	2.0	-	-	4237_6:36938207-36938207 C>A_VSMLTYPFLLVGYLMAVNNCGLQAG
1:64624848-64624848 G>A	1.0	4237	ADENOCARCINOMA	-	-	-	-	ROR1	uc001dbj.3,p.M453I|NM_005012,p.M453I|ENST00000371079,p.M453I	protein_coding, processed_transcript	uc001dbj.3	nonsynonymous SNV	exon8	c.G1359A	p.M453I	RQPKHVRGQNVEMSMLNAYKPKSKA	RQPKHVRGQNVEISMLNAYKPKSKA	7.0	7.0	-	-	4237_1:64624848-64624848 G>A_RQPKHVRGQNVEISMLNAYKPKSKA
13:61084889-61084889 G>A	1.0	4237	ADENOCARCINOMA	-	-	-	-	TDRD3	NM_001146070,p.E381K|uc010aef.2,p.E113K|NM_030794,p.E288K|uc010aeg.3,p.E381K|uc001via.3,p.E288K|ENST00000535286,p.E381K|ENST00000377881,p.E288K|uc001vib.4,p.E287K|NM_001146071,p.E288K|ENST00000196169,p.E288K|uc001vhz.4,p.E288K|ENST00000377894,p.E288K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010aeg.3	nonsynonymous SNV	exon10	c.G1141A	p.E381K	FLESKMGTLNVEEPKSQPQQLHQGQ	FLESKMGTLNVEKPKSQPQQLHQGQ	7.0	6.0	-	-	4237_13:61084889-61084889 G>A_FLESKMGTLNVEKPKSQPQQLHQGQ
19:52519791-52519791 T>A	1.0	4237	ADENOCARCINOMA	-	-	-	-	ZNF614	uc002pyj.3,p.M354L|NM_025040,p.M354L|ENST00000270649,p.M354L|uc010epj.3,p.M57L	protein_coding, nonsense_mediated_decay	uc010epj.3	nonsynonymous SNV	exon6	c.A169T	p.M57L	PYICSECGKGFTMKRYLVVHQRTHT	PYICSECGKGFTLKRYLVVHQRTHT	6.0	5.0	unscreened	-	4237_19:52519791-52519791 T>A_PYICSECGKGFTLKRYLVVHQRTHT
17:1584908-1584908 G>C	1.0	4237	ADENOCARCINOMA	-	-	-	-	PRPF8	ENST00000304992,p.Q244E|ENST00000577001,p.Q189E|ENST00000572621,p.Q244E|NM_006445,p.Q244E|uc002fte.3,p.Q244E	retained_intron, protein_coding, processed_transcript	uc002fte.3	nonsynonymous SNV	exon6	c.C730G	p.Q244E	LPMMSTLYRLANQLLTDLVDDNYFY	LPMMSTLYRLANELLTDLVDDNYFY	10.0	10.0	-	-	4237_17:1584908-1584908 G>C_LPMMSTLYRLANELLTDLVDDNYFY
10:129870463-129870463 C>G	1.0	4237	ADENOCARCINOMA	-	-	-	-	PTPRE	uc010quq.1,p.N384K|uc001lkb.3,p.N483K|uc009yau.2,p.N483K|ENST00000419012,p.N483K|NM_006504,p.N483K|uc001lkd.3,p.N425K|uc009yat.3,p.N494K|ENST00000306042,p.N425K|ENST00000254667,p.N483K|NM_130435,p.N425K	protein_coding, processed_transcript	uc010quq.1	nonsynonymous SNV	exon11	c.C1152G	p.N384K	SMKRGQEYTDYINASFIDGYRQKDY	SMKRGQEYTDYIKASFIDGYRQKDY	8.0	7.0	-	-	4237_10:129870463-129870463 C>G_SMKRGQEYTDYIKASFIDGYRQKDY
17:15532492-15532492 C>G	1.0	4237	ADENOCARCINOMA	-	-	-	-	TRIM16	ENST00000579219,p.L74F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000579219	nonsynonymous SNV	exon3	c.G222C	p.L74F	TVQFLEMRMTSRLTRTQHTSISGCR	TVQFLEMRMTSRFTRTQHTSISGCR	8.0	6.0	unscreened	-	4237_17:15532492-15532492 C>G_TVQFLEMRMTSRFTRTQHTSISGCR
19:8654233-8654233 C>T	1.0	4237	ADENOCARCINOMA	-	-	-	-	ADAMTS10	uc002mkj.1,p.R684Q|ENST00000595838,p.R171Q|NM_001282352,p.R171Q|uc002mkk.1,p.R316Q|NM_030957,p.R684Q|ENST00000597188,p.R684Q|ENST00000270328,p.R684Q|uc002mki.1,p.R171Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkk.1	nonsynonymous SNV	exon17	c.G947A	p.R316Q	CVSGECKHVGCDRVLGSDLREDKCR	CVSGECKHVGCDQVLGSDLREDKCR	7.0	4.0	-	-	4237_19:8654233-8654233 C>T_CVSGECKHVGCDQVLGSDLREDKCR
9:5713923-5713926 CCAT>-	0.0	4237	ADENOCARCINOMA	-	-	-	-	RIC1	NM_001206557,p.P120fs|uc003zjl.4,p.P120fs|ENST00000414202,p.P120fs|NM_020829,p.P120fs|NM_001135920,p.P120fs|uc003zjh.4,p.P120fs|uc003zji.4,p.P120fs|ENST00000251879,p.P120fs|ENST00000418622,p.P41fs|ENST00000449720,p.P41fs|ENST00000381532,p.P41fs	retained_intron, protein_coding, nonsense_mediated_decay	uc003zjl.4	frameshift deletion	exon4	c.360_363del	p.P120fs	VYPKGSPQMKGTPHFKEEQCAPALNL	VYPKGSPQMKGTPLRKNSVLQH	6.0	10.0	-	-	4237_9:5713923-5713926 CCAT>-_VYPKGSPQMKGTPLRKNSVLQH
19:58420252-58420252 G>T	0.0	4237	ADENOCARCINOMA	-	-	-	-	ZNF417	ENST00000595559,p.A464E|ENST00000536263,p.A266E|NM_001297734,p.A464E|NM_152475,p.A465E|uc002qqq.3,p.A465E|ENST00000312026,p.A465E|uc002qqr.3,p.A464E|uc010yhm.2,p.A422E	protein_coding	uc010yhm.2	nonsynonymous SNV	exon4	c.C1265A	p.A422E	VHERVHTGERPYACEVCGKLFGNKN	VHERVHTGERPYECEVCGKLFGNKN	8.0	3.0	unscreened	-	4237_19:58420252-58420252 G>T_VHERVHTGERPYECEVCGKLFGNKN
1:179310255-179310255 C>T	1.0	4237	ADENOCARCINOMA	-	-	-	-	SOAT1	NM_001252511,p.S139L|ENST00000367619,p.S197L|ENST00000540564,p.S139L|NM_001252512,p.S132L|NM_003101,p.S197L|uc010pni.2,p.S132L|ENST00000426956,p.S197L|uc001gml.3,p.S197L|uc001gmm.3,p.S139L|ENST00000539888,p.S132L|uc010pnk.2,p.S132L	protein_coding	uc010pnk.2	nonsynonymous SNV	exon6	c.C395T	p.S132L	VWTWWIMFLSTFSVPYFLFQHWATG	VWTWWIMFLSTFLVPYFLFQHWATG	9.0	8.0	-	-	4237_1:179310255-179310255 C>T_VWTWWIMFLSTFLVPYFLFQHWATG
12:114837432-114837432 A>G	0.0	4237	ADENOCARCINOMA	-	-	-	-	TBX5	NM_181486,p.M83T|uc001tvo.4,p.M83T|ENST00000405440,p.M83T|uc001tvq.3,p.M33T|ENST00000526441,p.M83T|ENST00000349716,p.M33T|ENST00000310346,p.M83T|uc010syv.2,p.M83T|NM_000192,p.M83T|NM_080717,p.M33T|uc001tvp.3,p.M83T	protein_coding, processed_transcript	uc010syv.2	nonsynonymous SNV	exon3	c.T248C	p.M83T	GTEMIITKAGRRMFPSYKVKVTGLN	GTEMIITKAGRRTFPSYKVKVTGLN	7.0	2.0	unscreened	-	4237_12:114837432-114837432 A>G_GTEMIITKAGRRTFPSYKVKVTGLN
20:47739743-47739743 C>-	0.0	4237	ADENOCARCINOMA	-	-	-	-	STAU1	uc002xud.3,p.G284fs|uc002xug.3,p.G284fs|ENST00000371828,p.G209fs|ENST00000347458,p.G203fs|NM_017453,p.G284fs|ENST00000360426,p.G203fs|uc002xuf.3,p.G209fs|NM_017452,p.G203fs|NM_001037328,p.G209fs|NM_004602,p.G203fs|uc002xua.3,p.G203fs|ENST00000371856,p.G284fs|NM_017454,p.G203fs|ENST00000371802,p.G209fs|ENST00000340954,p.G203fs|uc002xuc.3,p.G203fs|uc002xub.3,p.G209fs|uc002xue.3,p.G203fs	protein_coding	uc002xug.3	frameshift deletion	exon8	c.852delG	p.G284fs	IVKPQTSPEYGQGINPISRLAQIQQA	IVKPQTSPEYGQGSIRLADWPRSSRQKRRRSQSTRSSQSEASRAAGSL	9.0	1.0	unscreened	-	4237_20:47739743-47739743 C>-_IVKPQTSPEYGQGSIRLADWPRSSRQKRRRSQSTRSSQSEASRAAGSL
20:47739743-47739743 C>-	0.0	4237	ADENOCARCINOMA	-	-	-	-	STAU1	ENST00000371792,p.G201fs	protein_coding	ENST00000371792	frameshift deletion	exon6	c.603delG	p.G201fs	KPIVKTSPEYGQGINPISRLAQIQQA	KPIVKTSPEYGQGSIRLADWPRSSRQKRRRSQSTRSSQSEASRAAGSL	9.0	1.0	unscreened	-	4237_20:47739743-47739743 C>-_KPIVKTSPEYGQGSIRLADWPRSSRQKRRRSQSTRSSQSEASRAAGSL
18:3255779-3255779 A>G	1.0	4237	ADENOCARCINOMA	-	-	-	-	MYL12A	uc002klr.3,p.T127A|ENST00000580887,p.T133A|uc002kls.3,p.T133A|ENST00000579226,p.T127A|ENST00000536605,p.T127A|ENST00000578611,p.T127A|ENST00000217652,p.T127A|NM_006471,p.T127A	retained_intron, protein_coding, processed_transcript	uc002kls.3	nonsynonymous SNV	exon4	c.A397G	p.T133A	GTIQEDYLRELLTTMGDRFTDEEVD	GTIQEDYLRELLATMGDRFTDEEVD	10.0	4.0	-	-	4237_18:3255779-3255779 A>G_GTIQEDYLRELLATMGDRFTDEEVD
17:26712098-26712098 C>-	0.0	4237	ADENOCARCINOMA	-	-	-	-	SARM1	uc010crl.1,p.N476fs|uc002hbe.1,p.N22fs|ENST00000457710,p.N444fs|NM_015077,p.N477fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010crl.1	frameshift deletion	exon7	c.1428delC	p.N476fs	FFRELTELKTFANYSTCDRSNLADWL	FFRELTELKTFANILRATAATWRTGWAAWTRASASTPTAWSAAAWTAPCCTACLSSSCWKTAASTWACTAPASSRRPEKCYTPRCPVLVANPVGTLQMSSSATAGTQVPSWPVS	7.0	2.0	unscreened	-	4237_17:26712098-26712098 C>-_FFRELTELKTFANILRATAATWRTGWAAWTRASASTPTAWSAAAWTAPCCTACLSSSCWKTAASTWACTAPASSRRPEKCYTPRCPVLVANPVGTLQMSSSATAGTQVPSWPVS
12:101005914-101005914 G>T	1.0	4237	ADENOCARCINOMA	-	-	-	-	GAS2L3	uc001thu.3,p.G147V|ENST00000539410,p.G147V|ENST00000547754,p.G147V|ENST00000537247,p.G43V|uc001thv.3,p.G43V|NM_174942,p.G147V|uc009zty.3,p.G147V|ENST00000266754,p.G147V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zty.3	nonsynonymous SNV	exon5	c.G440T	p.G147V	IGVDETYLFESEGLVLHKDPRQVYL	IGVDETYLFESEVLVLHKDPRQVYL	6.0	5.0	-	-	4237_12:101005914-101005914 G>T_IGVDETYLFESEVLVLHKDPRQVYL
16:66839834-66839834 C>G	0.0	4237	ADENOCARCINOMA	-	-	-	-	NAE1	uc002eqg.3,p.D387H|ENST00000379463,p.D470H|ENST00000290810,p.D476H|uc002eqf.3,p.D476H|NM_001018159,p.D470H|uc010cdv.3,p.D479H|NM_003905,p.D476H|uc002eqe.3,p.D470H|NM_001018160,p.D387H|ENST00000394074,p.D387H|NM_001286500,p.D479H|ENST00000359087,p.D479H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cdv.3	nonsynonymous SNV	exon18	c.G1435C	p.D479H	FLQEYGLSVMVKDDYVHEFCRYGAA	FLQEYGLSVMVKHDYVHEFCRYGAA	8.0	10.0	-	-	4237_16:66839834-66839834 C>G_FLQEYGLSVMVKHDYVHEFCRYGAA
19:58132108-58132108 C>A	0.0	4237	ADENOCARCINOMA	-	-	-	-	ZNF134	uc002qpo.2,p.S34R|ENST00000396161,p.S207R|uc002qpn.2,p.S207R|NM_003435,p.S207R	protein_coding, processed_transcript	uc002qpo.2	nonsynonymous SNV	exon2	c.C102A	p.S34R	QRIHSGEKPYECSECGKAFSRKATL	QRIHSGEKPYECRECGKAFSRKATL	7.0	6.0	unscreened	-	4237_19:58132108-58132108 C>A_QRIHSGEKPYECRECGKAFSRKATL
10:70776153-70776153 C>T	0.0	4237	ADENOCARCINOMA	-	-	-	-	KIAA1279	ENST00000361983,p.T616I|uc001joy.3,p.T616I|NM_015634,p.T616I	protein_coding, processed_transcript	uc001joy.3	nonsynonymous SNV	exon7	c.C1847T	p.T616I	VSLLPTKMERFRTKMALT	VSLLPTKMERFRIKMALT	8.0	2.0	unscreened	-	4237_10:70776153-70776153 C>T_VSLLPTKMERFRIKMALT
19:2918003-2918003 G>T	0.0	4237	ADENOCARCINOMA	-	-	-	-	ZNF57	uc010xha.2,p.A430S|NM_173480,p.A462S|ENST00000306908,p.A462S|ENST00000523428,p.A430S|uc002lwr.3,p.A462S	protein_coding	uc010xha.2	nonsynonymous SNV	exon4	c.G1288T	p.A430S	CEHCGKAFTSSRAFQGHLRMHTGEK	CEHCGKAFTSSRSFQGHLRMHTGEK	6.0	3.0	unscreened	-	4237_19:2918003-2918003 G>T_CEHCGKAFTSSRSFQGHLRMHTGEK
1:63329684-63329684 G>A	1.0	4237	ADENOCARCINOMA	-	-	-	-	ATG4C	uc001dau.3,p.E411K|NM_178221,p.E411K|ENST00000317868,p.E411K|uc001dat.3,p.E411K|NM_032852,p.E411K|ENST00000371120,p.E411K	protein_coding	uc001dau.3	nonsynonymous SNV	exon11	c.G1231A	p.E411K	EEITKMLKFSSKEKYPLFTFVNGHS	EEITKMLKFSSKKKYPLFTFVNGHS	7.0	10.0	-	-	4237_1:63329684-63329684 G>A_EEITKMLKFSSKKKYPLFTFVNGHS
11:6646580-6646580 G>C	0.0	4237	ADENOCARCINOMA	-	-	-	-	DCHS1	NM_003737,p.S2332C|uc001mem.1,p.S2332C|ENST00000299441,p.S2332C	protein_coding	uc001mem.1	nonsynonymous SNV	exon19	c.C6995G	p.S2332C	DPFSVGRYGGRVSLTGPLDFEQCDR	DPFSVGRYGGRVCLTGPLDFEQCDR	7.0	5.0	unscreened	-	4237_11:6646580-6646580 G>C_DPFSVGRYGGRVCLTGPLDFEQCDR
14:90446909-90446909 G>A	1.0	4237	ADENOCARCINOMA	-	-	-	-	TDP1	ENST00000393454,p.E273K|uc010atn.3,p.E273K|ENST00000393452,p.E273K|uc001xxy.3,p.E273K|ENST00000557782,p.E21K|uc001xxz.3,p.E273K|ENST00000335725,p.E273K|ENST00000553617,p.E174K|NM_001008744,p.E273K|ENST00000555880,p.E273K|NM_018319,p.E273K|ENST00000545686,p.E273K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010atn.3	nonsynonymous SNV	exon8	c.G817A	p.E273K	THHTKMMLLLYEEGLRVVIHTSNLI	THHTKMMLLLYEKGLRVVIHTSNLI	8.0	7.0	-	-	4237_14:90446909-90446909 G>A_THHTKMMLLLYEKGLRVVIHTSNLI
16:1396616-1396616 C>T	0.0	4237	ADENOCARCINOMA	-	-	-	-	BAIAP3	ENST00000568887,p.P830L|uc010uvc.1,p.P822L|NM_001199098,p.P835L|ENST00000397488,p.P875L|NM_001286464,p.P875L|NM_001199099,p.P830L|NM_001199097,p.P858L|uc002clj.3,p.P875L|ENST00000562208,p.P835L|ENST00000397489,p.P875L|ENST00000421665,p.P822L|ENST00000426824,p.P858L|NM_003933,p.P893L|uc010uva.2,p.P830L|uc002clk.2,p.P893L|NM_001199096,p.P822L|uc010uuz.2,p.P858L|uc021tag.1,p.P835L|ENST00000324385,p.P893L	retained_intron, protein_coding, processed_transcript	uc021tag.1	nonsynonymous SNV	exon27	c.C2504T	p.P835L	SPDSIQNDEAVAPLMKYLDEKLALL	SPDSIQNDEAVALLMKYLDEKLALL	7.0	3.0	unscreened	-	4237_16:1396616-1396616 C>T_SPDSIQNDEAVALLMKYLDEKLALL
17:15532492-15532492 C>G	1.0	4237	ADENOCARCINOMA	-	-	-	-	TRIM16	ENST00000580110,p.L106F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000580110	nonsynonymous SNV	exon4	c.G318C	p.L106F	GNSSSNMRMTSRLTRTQHT	GNSSSNMRMTSRFTRTQHT	8.0	6.0	unscreened	-	4237_17:15532492-15532492 C>G_GNSSSNMRMTSRFTRTQHT
9:131371165-131371165 G>C	0.0	4237	ADENOCARCINOMA	-	-	-	-	SPTAN1	NM_001130438,p.A1502P|ENST00000372731,p.A1502P|uc004bvl.4,p.A1502P|ENST00000358161,p.A1502P|NM_003127,p.A1502P|NM_001195532,p.A1482P|uc004bvn.4,p.A1482P|uc004bvm.4,p.A1502P|ENST00000372739,p.A1502P	protein_coding, processed_transcript	uc004bvn.4	nonsynonymous SNV	exon34	c.G4444C	p.A1482P	FDKAINVQEEKIAALQAFADQLIAA	FDKAINVQEEKIPALQAFADQLIAA	9.0	7.0	-	-	4237_9:131371165-131371165 G>C_FDKAINVQEEKIPALQAFADQLIAA
16:5135701-5135701 G>A	1.0	4237	ADENOCARCINOMA	-	-	ID=COSM971367;OCCURENCE=1(endometrium)	-	FAM86A	NM_201400,p.R309C|uc002cyo.2,p.R309C|NM_001289029,p.R248C|ENST00000427587,p.R309C|NM_201598,p.R275C|uc002cyp.2,p.R275C|ENST00000587133,p.R248C|ENST00000458008,p.R275C	retained_intron, protein_coding, nonsense_mediated_decay	uc002cyp.2	nonsynonymous SNV	exon7	c.C823T	p.R275C	LGRAGIRWEVEPRHEQKLFPYEEHL	LGRAGIRWEVEPCHEQKLFPYEEHL	7.0	4.0	-	-	4237_16:5135701-5135701 G>A_LGRAGIRWEVEPCHEQKLFPYEEHL
11:830631-830631 G>A	1.0	4237	ADENOCARCINOMA	-	-	-	-	CRACR2B	ENST00000525077,p.R235H|uc009ycm.1,p.R235H|ENST00000450448,p.R235H|NM_001286606,p.R235H|uc001lrv.2,p.R235H|NM_173584,p.R235H|ENST00000528542,p.R235H	retained_intron, protein_coding	uc009ycm.1	nonsynonymous SNV	exon7	c.G704A	p.R235H	EQSRRPPSQNFARGERRSRLELELQ	EQSRRPPSQNFAHGERRSRLELELQ	9.0	10.0	-	-	4237_11:830631-830631 G>A_EQSRRPPSQNFAHGERRSRLELELQ
19:37975691-37975691 G>T	0.0	4237	ADENOCARCINOMA	-	-	-	-	ZNF570	uc002ogk.1,p.K389N|NM_144694,p.K389N|ENST00000330173,p.K389N|ENST00000388801,p.K186N|uc010xtr.1,p.K186N|ENST00000586475,p.K445N|uc010efl.1,p.K445N|NM_001300993,p.K445N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010xtr.1	nonsynonymous SNV	exon4	c.G558T	p.K186N	QRIHTGERPYECKECGKAFSQNSHL	QRIHTGERPYECNECGKAFSQNSHL	6.0	1.0	unscreened	-	4237_19:37975691-37975691 G>T_QRIHTGERPYECNECGKAFSQNSHL
15:30699723-30699723 G>A	1.0	4237	ADENOCARCINOMA	-	-	-	-	GOLGA8R	NM_001282484,p.P295S|uc021shl.1,p.P23S|ENST00000544495,p.P136S|ENST00000327271,p.P295S	protein_coding, TEC	uc021shl.1	nonsynonymous SNV	exon2	c.C67T	p.P23S	LSKLKNQTAEPLPPEPPAVPSEVEL	LSKLKNQTAEPLSPEPPAVPSEVEL	5.0	9.0	-	-	4237_15:30699723-30699723 G>A_LSKLKNQTAEPLSPEPPAVPSEVEL
1:55183169-55183169 G>T	1.0	4237	ADENOCARCINOMA	-	-	-	-	TTC4	uc001cxx.4,p.Q78H|uc001cxv.3,p.Q89H|NM_001291333,p.Q78H|NM_004623,p.Q78H|ENST00000371281,p.Q78H	retained_intron, protein_coding	uc001cxx.4	nonsynonymous SNV	exon3	c.G234T	p.Q78H	SIIFDEERSPEEQAKTYKDEGNDYF	SIIFDEERSPEEHAKTYKDEGNDYF	8.0	6.0	-	-	4237_1:55183169-55183169 G>T_SIIFDEERSPEEHAKTYKDEGNDYF
15:41624640-41624640 ->T	0.0	4237	ADENOCARCINOMA	-	-	-	-	OIP5	ENST00000220514,p.D40fs|NM_007280,p.D40fs|uc001znp.3,p.D40fs	protein_coding	uc001znp.3	frameshift insertion	exon1	c.119dupA	p.D40fs	IDQASFTTSMEWDTQVVKGSSPLGP	IDQASFTTSMEWEYAGGEGVLAARPRRAGG	5.0	8.0	-	-	4237_15:41624640-41624640 ->T_IDQASFTTSMEWEYAGGEGVLAARPRRAGG
14:68290323-68290323 A>T	1.0	4237	ADENOCARCINOMA	-	-	-	1	RAD51B	ENST00000479335,p.R21S|uc010aqq.3,p.R21S|uc001xkf.2,p.R21S|ENST00000487270,p.R21S|uc001xke.3,p.R21S|ENST00000553334,p.R21S|ENST00000487861,p.R21S|ENST00000471583,p.R21S|NM_133509,p.R21S|NM_133510,p.R21S|NM_002877,p.R21S|uc001xkd.3,p.R21S|uc001xkg.2,p.R21S|ENST00000390683,p.R21S|ENST00000485181,p.R21S|ENST00000488612,p.R21S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010aqq.3	nonsynonymous SNV	exon2	c.A63T	p.R21S	VGLSQELCDRLSRHQILTCQDFLCL	VGLSQELCDRLSSHQILTCQDFLCL	7.0	4.0	-	-	4237_14:68290323-68290323 A>T_VGLSQELCDRLSSHQILTCQDFLCL
3:52554525-52554525 G>T	0.0	4237	ADENOCARCINOMA	-	-	-	-	STAB1	ENST00000321725,p.G1870V|NM_015136,p.G1870V|uc003dej.3,p.G1870V	retained_intron, protein_coding	uc003dej.3	nonsynonymous SNV	exon53	c.G5609T	p.G1870V	YGIDQLLEPPGLGARCDHFETRPLR	YGIDQLLEPPGLVARCDHFETRPLR	9.0	4.0	unscreened	-	4237_3:52554525-52554525 G>T_YGIDQLLEPPGLVARCDHFETRPLR
2:112592273-112592273 ->A	0.0	4237	ADENOCARCINOMA	-	-	-	-	ANAPC1	NM_022662,p.F764fs|uc002thi.3,p.F764fs|ENST00000341068,p.F764fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002thi.3	frameshift insertion	exon19	c.2291dupT	p.F764fs	STLLFTHIPAIFFVLHLVYEELKLN	STLLFTHIPAIFFRSSPCV	7.0	5.0	unscreened	-	4237_2:112592273-112592273 ->A_STLLFTHIPAIFFRSSPCV
19:7935411-7935411 C>G	0.0	4237	ADENOCARCINOMA	-	-	-	-	PRR36	ENST00000539422,p.V907L	protein_coding, processed_transcript	ENST00000539422	nonsynonymous SNV	exon5	c.G2719C	p.V907L	VQAPFSPPASPPVSPSATPPSQAPP	VQAPFSPPASPPLSPSATPPSQAPP	6.0	9.0	unscreened	-	4237_19:7935411-7935411 C>G_VQAPFSPPASPPLSPSATPPSQAPP
5:9122831-9122831 G>A	1.0	4237	ADENOCARCINOMA	-	-	-	-	SEMA5A	ENST00000382496,p.P573L|uc003jek.2,p.P573L|NM_003966,p.P573L	protein_coding, nonsense_mediated_decay	uc003jek.2	nonsynonymous SNV	exon14	c.C1718T	p.P573L	GSCLCRTRSCDSPAPQCGGWQCEGP	GSCLCRTRSCDSLAPQCGGWQCEGP	6.0	9.0	-	-	4237_5:9122831-9122831 G>A_GSCLCRTRSCDSLAPQCGGWQCEGP
7:1515923-1515923 C>T	1.0	4237	ADENOCARCINOMA	-	-	-	-	INTS1	uc003skn.2,p.E1774K|NM_001080453,p.E1774K|ENST00000389470,p.E1978K|ENST00000404767,p.E1774K	retained_intron, protein_coding, processed_transcript	uc003skn.2	nonsynonymous SNV	exon38	c.G5320A	p.E1774K	LPLLLSCCCGDDESVRKVTEHLSGC	LPLLLSCCCGDDKSVRKVTEHLSGC	10.0	7.0	-	-	4237_7:1515923-1515923 C>T_LPLLLSCCCGDDKSVRKVTEHLSGC
14:90446909-90446909 G>A	1.0	4237	ADENOCARCINOMA	-	-	-	-	TDP1	ENST00000357382,p.E34K|uc001xya.3,p.E34K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xya.3	nonsynonymous SNV	exon7	c.G100A	p.E34K	LSARKMMLLLYEEGLRVVIHTSNLI	LSARKMMLLLYEKGLRVVIHTSNLI	8.0	7.0	-	-	4237_14:90446909-90446909 G>A_LSARKMMLLLYEKGLRVVIHTSNLI
9:115200885-115200885 A>G	1.0	4237	ADENOCARCINOMA	-	-	-	-	HSDL2	NM_032303,p.D258G|uc011lwv.2,p.D137G|NM_001195822,p.D185G|ENST00000539114,p.D53G|uc011lww.2,p.D53G|uc004bga.2,p.D258G|uc004bgc.2,p.D185G|ENST00000398805,p.D258G|ENST00000398803,p.D185G|ENST00000262542,p.D138G|uc004bgb.2,p.D92G	protein_coding, processed_transcript	uc011lww.2	nonsynonymous SNV	exon5	c.A158G	p.D53G	ENILKEEGIENFDVYAIKPGHPLQP	ENILKEEGIENFGVYAIKPGHPLQP	8.0	3.0	-	-	4237_9:115200885-115200885 A>G_ENILKEEGIENFGVYAIKPGHPLQP
15:42147465-42147465 G>C	1.0	4237	ADENOCARCINOMA	-	-	-	-	SPTBN5	ENST00000320955,p.T3127S|NM_016642,p.T3127S|uc001zos.4,p.T3127S	retained_intron, protein_coding	uc001zos.4	nonsynonymous SNV	exon55	c.C9380G	p.T3127S	LLLDAWLTTKAATAESQDYGQDLEG	LLLDAWLTTKAASAESQDYGQDLEG	6.0	2.0	-	-	4237_15:42147465-42147465 G>C_LLLDAWLTTKAASAESQDYGQDLEG
16:66839834-66839834 C>G	0.0	4237	ADENOCARCINOMA	-	-	-	-	NAE1	ENST00000566663,p.D107H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000566663	nonsynonymous SNV	exon5	c.G319C	p.D107H	FLQEYGLSVMVKDDYVHELSCCSRG	FLQEYGLSVMVKHDYVHELSCCSRG	8.0	10.0	unscreened	-	4237_16:66839834-66839834 C>G_FLQEYGLSVMVKHDYVHELSCCSRG
16:66839834-66839834 C>G	0.0	4237	ADENOCARCINOMA	-	-	-	-	NAE1	ENST00000562428,p.D42H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000562428	nonsynonymous SNV	exon2	c.G124C	p.D42H	FLQEYGLSVMVKDDYVHELLIKIHV	FLQEYGLSVMVKHDYVHELLIKIHV	8.0	10.0	unscreened	-	4237_16:66839834-66839834 C>G_FLQEYGLSVMVKHDYVHELLIKIHV
9:123210282-123210282 C>A	1.0	4237	ADENOCARCINOMA	-	-	-	-	CDK5RAP2	uc011lya.3,p.Q237H|ENST00000360190,p.Q972H|ENST00000359309,p.Q972H|uc004bkh.2,p.Q742H|ENST00000349780,p.Q972H|NM_018249,p.Q972H|ENST00000416449,p.Q366H|uc004bke.3,p.Q257H|NM_001272039,p.Q742H|ENST00000360822,p.Q940H|uc011lxz.3,p.Q237H|uc010mvi.3,p.Q22H|uc004bkg.4,p.Q972H|uc004bkf.4,p.Q972H|uc011lxw.3,p.Q237H|ENST00000425647,p.Q23H|NM_001011649,p.Q972H|uc004bki.3,p.Q739H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lya.3	nonsynonymous SNV	exon22	c.G711T	p.Q237H	VVTQLQSQILELQGELKEFKTCNKQ	VVTQLQSQILELHGELKEFKTCNKQ	9.0	3.0	-	-	4237_9:123210282-123210282 C>A_VVTQLQSQILELHGELKEFKTCNKQ
1:245809494-245809494 G>C	1.0	4237	ADENOCARCINOMA	-	-	-	-	KIF26B	ENST00000366518,p.E343Q|uc010pyq.1,p.E724Q|ENST00000407071,p.E724Q|uc001ibg.1,p.E342Q|uc001ibf.1,p.E724Q|NM_018012,p.E724Q	retained_intron, protein_coding, processed_transcript	uc010pyq.1	nonsynonymous SNV	exon10	c.G2170C	p.E724Q	LGSCVKALSKNREGGSGLCLSLSAL	LGSCVKALSKNRQGGSGLCLSLSAL	7.0	8.0	-	-	4237_1:245809494-245809494 G>C_LGSCVKALSKNRQGGSGLCLSLSAL
14:71275768-71275776 CCGCCGCCT>-	1.0	4237	ADENOCARCINOMA	-	-	-	-	MAP3K9	NM_001284230,p.38_41del|ENST00000381250,p.38_41del|ENST00000555993,p.38_41del|ENST00000554752,p.38_41del|uc001xmm.3,p.38_41del|NM_033141,p.38_41del|uc001xml.3,p.38_41del	retained_intron, protein_coding	uc001xmm.3	nonframeshift deletion	exon1	c.113_121del	p.38_41del	GAGAEEEEEEEEEAAAAVGPGELGCD	GAGAEEEEEEEEAAVGPGELGCDAP	7.0	8.0	unscreened	-	4237_14:71275768-71275776 CCGCCGCCT>-_GAGAEEEEEEEEAAVGPGELGCDAP
9:5713927-5713927 T>A	0.0	4237	ADENOCARCINOMA	-	-	-	-	RIC1	uc003zji.4,p.F122I|uc003zjh.4,p.F122I|ENST00000449720,p.F43I|ENST00000381532,p.F43I|NM_020829,p.F122I|NM_001206557,p.F122I|ENST00000251879,p.F122I|NM_001135920,p.F122I|ENST00000418622,p.F43I|ENST00000414202,p.F122I|uc003zjl.4,p.F122I	retained_intron, protein_coding, nonsense_mediated_decay	uc003zjl.4	nonsynonymous SNV	exon4	c.T364A	p.F122I	PKGSPQMKGTPHFKEEQCAPALNLE	PKGSPQMKGTPHIKEEQCAPALNLE	6.0	10.0	-	-	4237_9:5713927-5713927 T>A_PKGSPQMKGTPHIKEEQCAPALNLE
1:146672753-146672753 C>G	1.0	4237	ADENOCARCINOMA	-	-	-	-	FMO5	NM_001144829,p.W388C|uc001eph.4,p.W388C|ENST00000254090,p.W388C|uc001epi.2,p.W388C|NM_001461,p.W388C|ENST00000441068,p.W388C	protein_coding, processed_transcript, nonsense_mediated_decay	uc001epi.2	nonsynonymous SNV	exon7	c.G1164C	p.W388C	GAIMPISELQGRWATQVFKGLKTLP	GAIMPISELQGRCATQVFKGLKTLP	8.0	1.0	-	-	4237_1:146672753-146672753 C>G_GAIMPISELQGRCATQVFKGLKTLP
1:224586700-224586700 C>T	1.0	4237	ADENOCARCINOMA	-	-	-	-	WDR26	NM_025160,p.V486I|ENST00000295024,p.V339I|ENST00000414423,p.V486I|uc001hop.4,p.V486I|NM_001115113,p.V470I|uc001hoq.4,p.V470I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001hoq.4	nonsynonymous SNV	exon10	c.G1408A	p.V470I	DLDGNLLDSWEGVRVQCLWCLSDGK	DLDGNLLDSWEGIRVQCLWCLSDGK	9.0	10.0	-	-	4237_1:224586700-224586700 C>T_DLDGNLLDSWEGIRVQCLWCLSDGK
7:45124868-45124868 G>C	0.0	4237	ADENOCARCINOMA	-	-	-	-	NACAD	uc003tmt.3,p.P304R|ENST00000490531,p.P304R|NM_001146334,p.P304R	retained_intron, protein_coding	uc003tmt.3	nonsynonymous SNV	exon2	c.C911G	p.P304R	GHFFDLDFLANDPMIPAALLPFQGS	GHFFDLDFLANDRMIPAALLPFQGS	7.0	7.0	-	-	4237_7:45124868-45124868 G>C_GHFFDLDFLANDRMIPAALLPFQGS
17:74288298-74288298 A>T	0.0	4237	ADENOCARCINOMA	-	-	-	-	QRICH2	uc002jrd.1,p.V671D|NM_032134,p.V671D|ENST00000262765,p.V671D	protein_coding, nonsense_mediated_decay	uc002jrd.1	nonsynonymous SNV	exon4	c.T2012A	p.V671D	GVDQRGLVQPGAVQRGLVQPGAVQH	GVDQRGLVQPGADQRGLVQPGAVQH	7.0	9.0	unscreened	-	4237_17:74288298-74288298 A>T_GVDQRGLVQPGADQRGLVQPGAVQH
16:47409833-47409833 A>C	0.0	4237	ADENOCARCINOMA	-	-	-	-	ITFG1	NM_030790,p.L225W|uc002eet.3,p.L225W|ENST00000320640,p.L225W|ENST00000544001,p.L112W|uc010vgh.2,p.L112W	retained_intron, protein_coding, processed_transcript	uc010vgh.2	nonsynonymous SNV	exon7	c.T335G	p.L112W	TEDFTADLFLTTLNATTSTFQFEIW	TEDFTADLFLTTWNATTSTFQFEIW	10.0	5.0	-	-	4237_16:47409833-47409833 A>C_TEDFTADLFLTTWNATTSTFQFEIW
19:37904243-37904243 C>A	0.0	4237	ADENOCARCINOMA	-	-	-	-	ZNF569	ENST00000392150,p.E280D|uc002ogj.3,p.E463D|uc002ogi.3,p.E439D|NM_152484,p.E439D|ENST00000316950,p.E439D|ENST00000392149,p.E439D|uc002ogh.3,p.E280D	protein_coding, processed_transcript	uc002ogj.3	nonsynonymous SNV	exon9	c.G1389T	p.E463D	THQKIHTREKPYECNECGKAFIQMS	THQKIHTREKPYDCNECGKAFIQMS	6.0	5.0	unscreened	-	4237_19:37904243-37904243 C>A_THQKIHTREKPYDCNECGKAFIQMS
3:8794858-8794858 ->T	0.0	4237	ADENOCARCINOMA	-	-	-	-	OXTR	NM_000916,p.N325fs|uc003brc.3,p.N325fs|ENST00000316793,p.N325fs	retained_intron, protein_coding	uc003brc.3	frameshift insertion	exon4	c.974dupA	p.N325fs	IVMLLASLNSCCNPWIYMLFTGHLF	IVMLLASLNSCCKPLDLHAVHGPPLPRTRAALPVLLRQLPEGQTPGRDECQQKEQLVLLCPEPSQLQPEELLPAIHGV	3.0	1.0	unscreened	 reached end of cDNA witout encountering stop codon	4237_3:8794858-8794858 ->T_IVMLLASLNSCCKPLDLHAVHGPPLPRTRAALPVLLRQLPEGQTPGRDECQQKEQLVLLCPEPSQLQPEELLPAIHGV
14:105418302-105418302 C>A	0.0	4237	ADENOCARCINOMA	-	-	-	-	AHNAK2	uc010axc.1,p.R1162S|NM_138420,p.R1162S|ENST00000333244,p.R1162S|uc001ypx.2,p.R1062S	retained_intron, protein_coding	uc010axc.1	nonsynonymous SNV	exon7	c.G3486T	p.R1162S	SLADKDVTAKDSRFKMPKFKMPSFG	SLADKDVTAKDSSFKMPKFKMPSFG	8.0	2.0	unscreened	-	4237_14:105418302-105418302 C>A_SLADKDVTAKDSSFKMPKFKMPSFG
2:26950735-26950735 A>G	1.0	4237	ADENOCARCINOMA	-	-	-	-	KCNK3	uc002rhn.2,p.I162V|NM_002246,p.I162V|ENST00000302909,p.I162V	protein_coding	uc002rhn.2	nonsynonymous SNV	exon2	c.A484G	p.I162V	RRADVSMANMVLIGFFSCISTLCIG	RRADVSMANMVLVGFFSCISTLCIG	6.0	8.0	-	-	4237_2:26950735-26950735 A>G_RRADVSMANMVLVGFFSCISTLCIG
3:195509045-195509045 C>G	0.0	4237	ADENOCARCINOMA	-	-	-	2	MUC4	ENST00000480843,p.A3136P|NM_018406,p.A3136P|ENST00000475231,p.A3136P|ENST00000466475,p.A3136P|ENST00000477756,p.A3136P|ENST00000470451,p.A3136P|uc021xjp.1,p.A3136P|ENST00000463781,p.A3136P|ENST00000462323,p.A3136P|ENST00000477086,p.A3136P|ENST00000479406,p.A3136P|ENST00000478156,p.A3136P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G9406C	p.A3136P	TDTSSASTGQATALPVTSTSSASTG	TDTSSASTGQATPLPVTSTSSASTG	9.0	7.0	unscreened	-	4237_3:195509045-195509045 C>G_TDTSSASTGQATPLPVTSTSSASTG
17:72942810-72942810 G>A	0.0	4237	ADENOCARCINOMA	-	-	-	-	OTOP3	ENST00000328801,p.R287Q|NM_001272005,p.R269Q|NM_178233,p.R287Q|uc010wrr.3,p.R287Q|uc010wrq.3,p.R269Q	protein_coding, nonsense_mediated_decay	uc010wrr.3	nonsynonymous SNV	exon6	c.G860A	p.R287Q	CLCLNATACEAFRRGFLMLYPFSTE	CLCLNATACEAFQRGFLMLYPFSTE	1.0	4.0	unscreened	-	4237_17:72942810-72942810 G>A_CLCLNATACEAFQRGFLMLYPFSTE
19:24116616-24116616 G>T	0.0	4237	ADENOCARCINOMA	-	-	-	-	ZNF726	ENST00000322487,p.K566N|uc021urw.1,p.K566N|NM_001244038,p.K566N|ENST00000594466,p.K566N	protein_coding	uc021urw.1	nonsynonymous SNV	exon4	c.G1698T	p.K566N	THKIIHTGEKPYKCEECGKAFNRSS	THKIIHTGEKPYNCEECGKAFNRSS	6.0	5.0	unscreened	-	4237_19:24116616-24116616 G>T_THKIIHTGEKPYNCEECGKAFNRSS
1:13365921-13365921 A>G	0.0	4237	ADENOCARCINOMA	-	rs199562274	-	-	LOC101929983,PRAMEF5,PRAMEF6	ENST00000376168,p.H122R|NM_001013407,p.H122R	protein_coding	NM_001013407	nonsynonymous SNV	exon3	c.A365G	p.H122R	ENFWMVWSEAMAHGCFLNAKRNKKP	ENFWMVWSEAMARGCFLNAKRNKKP	1.0	8.0	unscreened	-	4237_1:13365921-13365921 A>G_ENFWMVWSEAMARGCFLNAKRNKKP
11:117789342-117789342 T>C	0.0	4237	ADENOCARCINOMA	-	-	-	-	TMPRSS13	uc021qrc.1,p.Q78R|NM_001206790,p.Q78R|uc009yzr.2,p.Q78R|NM_001244995,p.Q78R|ENST00000528626,p.Q78R|NM_001077263,p.Q78R|ENST00000526090,p.Q78R|ENST00000430170,p.Q78R|uc001prs.2,p.Q78R|ENST00000445164,p.Q78R|ENST00000524993,p.Q78R|uc001pru.2,p.Q78R|NM_001206789,p.Q78R	retained_intron, protein_coding, nonsense_mediated_decay	uc021qrc.1	nonsynonymous SNV	exon2	c.A233G	p.Q78R	PGRASPGRASPAQASPAQASPARAS	PGRASPGRASPARASPAQASPARAS	7.0	7.0	unscreened	-	4237_11:117789342-117789342 T>C_PGRASPGRASPARASPAQASPARAS
16:31926822-31926822 C>A	0.0	4237	ADENOCARCINOMA	-	-	-	-	ZNF267	NM_003414,p.R418S|uc002ecs.5,p.R418S|ENST00000300870,p.R418S|uc031qvw.1,p.R162S|uc031qvx.1,p.R386S|NM_001265588,p.R386S	protein_coding, nonsense_mediated_decay	uc031qvx.1	nonsynonymous SNV	exon5	c.C1156A	p.R386S	KPYKCKECGKAFRCSSYLTKHKRIH	KPYKCKECGKAFSCSSYLTKHKRIH	8.0	5.0	unscreened	-	4237_16:31926822-31926822 C>A_KPYKCKECGKAFSCSSYLTKHKRIH
3:195510062-195510062 G>C	0.0	4237	ADENOCARCINOMA	-	-	-	2	MUC4	uc021xjp.1,p.H2797D|ENST00000466475,p.H2797D|ENST00000475231,p.H2797D|NM_018406,p.H2797D|ENST00000478156,p.H2797D|ENST00000477086,p.H2797D|ENST00000463781,p.H2797D|ENST00000479406,p.H2797D|ENST00000470451,p.H2797D|ENST00000477756,p.H2797D|ENST00000462323,p.H2797D|ENST00000480843,p.H2797D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C8389G	p.H2797D	LHVTSPSSASTGHTTPLPVTDASSV	LHVTSPSSASTGDTTPLPVTDASSV	9.0	7.0	unscreened	-	4237_3:195510062-195510062 G>C_LHVTSPSSASTGDTTPLPVTDASSV
19:44778796-44778796 G>-	0.0	4237	ADENOCARCINOMA	0.3	rs59660444	ID=COSM1394419;OCCURENCE=13(urinary_tract),8(large_intestine)	-	ZNF233	NM_181756,p.S661fs|ENST00000391958,p.S661fs|ENST00000334152,p.S643fs|NM_001207005,p.S661fs|uc002oyy.2,p.S476fs|uc021uvi.1,p.S661fs|uc002oyz.2,p.S661fs	protein_coding	uc021uvi.1	frameshift deletion	exon5	c.1983delG	p.S661fs	KCFVCGKGFSKSSLSSDSSESP	KCFVCGKGFSKSSCLQIHQRVH	5.0	10.0	unscreened	-	4237_19:44778796-44778796 G>-_KCFVCGKGFSKSSCLQIHQRVH
3:101520196-101520196 T>C	0.0	4237	ADENOCARCINOMA	-	-	-	-	NXPE3	ENST00000491511,p.S71P|uc010hpn.3,p.S71P|ENST00000422132,p.S71P|NM_145037,p.S71P|ENST00000273347,p.S71P|uc003dvn.3,p.S71P|ENST00000477909,p.S71P|NM_001134456,p.S71P	protein_coding, processed_transcript	uc010hpn.3	nonsynonymous SNV	exon5	c.T211C	p.S71P	RNPYCGYDQQTLSSQERMEEDSLLA	RNPYCGYDQQTLPSQERMEEDSLLA	6.0	3.0	unscreened	-	4237_3:101520196-101520196 T>C_RNPYCGYDQQTLPSQERMEEDSLLA
19:49963010-49963010 G>A	1.0	4237	ADENOCARCINOMA	-	-	-	-	ALDH16A1	NM_001145396,p.R135Q|NM_153329,p.R135Q|ENST00000293350,p.R135Q|uc002pnt.3,p.R135Q|ENST00000455361,p.R135Q|uc010yar.2,p.R135Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yar.2	nonsynonymous SNV	exon4	c.G404A	p.R135Q	ESLVTGRAVREVRDGDVQLAQQLLH	ESLVTGRAVREVQDGDVQLAQQLLH	9.0	3.0	-	-	4237_19:49963010-49963010 G>A_ESLVTGRAVREVQDGDVQLAQQLLH
12:49445651-49445651 C>G	0.0	4237	ADENOCARCINOMA	-	-	-	1	KMT2D	uc001rta.4,p.E605D|ENST00000301067,p.E605D|NM_003482,p.E605D	retained_intron, protein_coding, processed_transcript	uc001rta.4	nonsynonymous SNV	exon10	c.G1815C	p.E605D	PPEASRLFPPFEESPLSPPPEESPL	PPEASRLFPPFEDSPLSPPPEESPL	8.0	3.0	unscreened	-	4237_12:49445651-49445651 C>G_PPEASRLFPPFEDSPLSPPPEESPL
6:55128561-55128561 C>-	0.0	4237	ADENOCARCINOMA	-	-	-	-	HCRTR2	uc010jzw.1,p.P170fs	protein_coding	uc010jzw.1	frameshift deletion	exon4	c.508delC	p.P170fs	YHICFFLVTYMAPLCLMVLAYLQIFR	YHICFFLVTYMAHCVSWCWLICKYFANSGVDRYIVSNILRALFLHT	1.0	9.0	unscreened	-	4237_6:55128561-55128561 C>-_YHICFFLVTYMAHCVSWCWLICKYFANSGVDRYIVSNILRALFLHT
1:154687376-154687376 C>G	0.0	4237	ADENOCARCINOMA	-	-	-	-	KCNN3	NM_002249,p.R602T|NM_001204087,p.R617T|uc031ppq.1,p.R289T|uc001ffp.3,p.R602T|uc001ffo.3,p.R297T|ENST00000358505,p.R289T|uc021pah.1,p.R617T|ENST00000271915,p.R602T|ENST00000361147,p.R297T|NM_170782,p.R297T	protein_coding	uc031ppq.1	nonsynonymous SNV	exon6	c.G866C	p.R289T	KKIDHAKVRKHQRKFLQAIHQLRSV	KKIDHAKVRKHQTKFLQAIHQLRSV	6.0	8.0	-	-	4237_1:154687376-154687376 C>G_KKIDHAKVRKHQTKFLQAIHQLRSV
1:10699287-10699310 GGCGGCGCCCTCGCGCGGCCCGGG>-	0.0	4237	ADENOCARCINOMA	-	-	-	-	CASZ1	ENST00000377022,p.1657_1664del|uc001aro.4,p.1657_1664del|NM_001079843,p.1657_1664del	retained_intron, protein_coding, processed_transcript	uc001aro.4	nonframeshift deletion	exon21	c.4969_4992del	p.1657_1664del	DAGDPGPPDAAAPGPREGAAAAAAAA	DAGDPGPPDAAAAAAAAAGESSQED	8.0	6.0	unscreened	-	4237_1:10699287-10699310 GGCGGCGCCCTCGCGCGGCCCGGG>-_DAGDPGPPDAAAAAAAAAGESSQED
16:69970270-69970270 A>G	0.0	4237	ADENOCARCINOMA	-	-	-	-	WWP2	uc010vln.2,p.I296V|ENST00000568684,p.I239V|uc002exw.2,p.I239V|ENST00000542271,p.I562V|ENST00000359154,p.I678V|ENST00000448661,p.I678V|NM_199424,p.I239V|NM_007014,p.I678V|uc002exu.2,p.I678V|uc010vlm.2,p.I562V|ENST00000356003,p.I678V|NM_001270454,p.I678V|NM_001270453,p.I562V|uc002exv.2,p.I678V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vln.2	nonsynonymous SNV	exon10	c.A886G	p.I296V	CGLELYFIQDMEILGKVTTHELKEG	CGLELYFIQDMEVLGKVTTHELKEG	8.0	3.0	unscreened	-	4237_16:69970270-69970270 A>G_CGLELYFIQDMEVLGKVTTHELKEG
21:28296527-28296527 C>A	0.0	4237	ADENOCARCINOMA	-	-	-	-	ADAMTS5	uc002ymg.3,p.V880F|NM_007038,p.V880F|ENST00000284987,p.V880F	protein_coding	uc002ymg.3	nonsynonymous SNV	exon8	c.G2638T	p.V880F	NKVGSHTSQPQWVTGPWLACSRTCD	NKVGSHTSQPQWFTGPWLACSRTCD	4.0	5.0	unscreened	-	4237_21:28296527-28296527 C>A_NKVGSHTSQPQWFTGPWLACSRTCD
3:36896953-36896953 C>A	0.0	4237	ADENOCARCINOMA	-	-	-	-	TRANK1	uc003cgj.3,p.R1376S|ENST00000429976,p.R1376S|ENST00000301807,p.R826S|ENST00000428977,p.R826S|NM_014831,p.R1376S	protein_coding, processed_transcript	uc003cgj.3	nonsynonymous SNV	exon12	c.G4128T	p.R1376S	FDEEDVLYNISRRLSKLRVLPWSIH	FDEEDVLYNISRSLSKLRVLPWSIH	7.0	1.0	unscreened	-	4237_3:36896953-36896953 C>A_FDEEDVLYNISRSLSKLRVLPWSIH
7:100638484-100638484 A>T	0.0	4237	ADENOCARCINOMA	-	rs199794194	-	-	MUC12	NM_001164462,p.K1547I|uc003uxo.3,p.K1547I|ENST00000379442,p.K1690I|ENST00000536621,p.K1547I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.A4640T	p.K1547I	LPGSTTTAGLSEKSTTFYSSPRSPD	LPGSTTTAGLSEISTTFYSSPRSPD	5.0	10.0	-	-	4237_7:100638484-100638484 A>T_LPGSTTTAGLSEISTTFYSSPRSPD
6:55128561-55128561 C>-	0.0	4237	ADENOCARCINOMA	-	-	-	-	HCRTR2	NM_001526,p.P235fs|uc003pcl.3,p.P235fs|ENST00000370862,p.P235fs	protein_coding	uc003pcl.3	frameshift deletion	exon4	c.703delC	p.P235fs	YHICFFLVTYMAPLCLMVLAYLQIFR	YHICFFLVTYMAHCVSWCWLICKYFANSGVDRSLEHHL	1.0	9.0	unscreened	-	4237_6:55128561-55128561 C>-_YHICFFLVTYMAHCVSWCWLICKYFANSGVDRSLEHHL
17:46878922-46878922 A>G	0.0	4237	ADENOCARCINOMA	-	-	-	-	TTLL6	NM_001130918,p.S149P|ENST00000393382,p.S149P|uc021tzm.1,p.S149P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tzm.1	nonsynonymous SNV	exon4	c.T445C	p.S149P	DDWTLYWTDYSVSLERVMEMKSYQK	DDWTLYWTDYSVPLERVMEMKSYQK	4.0	1.0	unscreened	-	4237_17:46878922-46878922 A>G_DDWTLYWTDYSVPLERVMEMKSYQK
1:41475120-41475120 A>T	1.0	4237	ADENOCARCINOMA	-	-	-	-	CTPS1	ENST00000541520,p.H286L|uc001cgl.4,p.H517L|ENST00000372616,p.H517L|uc001cgk.4,p.H517L|NM_001301237,p.H361L|uc010ojq.2,p.H361L|NM_001905,p.H517L|uc010ojo.2,p.H286L|ENST00000372621,p.H517L	protein_coding, processed_transcript	uc010ojq.2	nonsynonymous SNV	exon13	c.A1082T	p.H361L	EGERMEIVELEDHPFFVGVQYHPEF	EGERMEIVELEDLPFFVGVQYHPEF	9.0	6.0	-	-	4237_1:41475120-41475120 A>T_EGERMEIVELEDLPFFVGVQYHPEF
2:179517448-179517448 T>A	0.0	4237	ADENOCARCINOMA	-	-	-	-	TTN	uc031rqc.1,p.K12992I|ENST00000589042,p.K12992I|NM_001267550,p.K12992I	retained_intron, protein_coding	uc031rqc.1	nonsynonymous SNV	exon201	c.A38975T	p.K12992I	PEVPPVKVPEAPKEVVPEKKVPSAP	PEVPPVKVPEAPIEVVPEKKVPSAP	6.0	4.0	unscreened	-	4237_2:179517448-179517448 T>A_PEVPPVKVPEAPIEVVPEKKVPSAP
19:23926717-23926717 A>C	0.0	4237	ADENOCARCINOMA	-	-	-	-	ZNF681	ENST00000402377,p.H545Q|uc002nrk.4,p.H545Q|ENST00000395385,p.H476Q|uc002nrj.4,p.H476Q|NM_138286,p.H545Q|uc002nrl.4,p.H476Q	protein_coding	uc002nrl.4	nonsynonymous SNV	exon3	c.T1428G	p.H476Q	PYTCEECGKAFNHSSHLATHKVIHT	PYTCEECGKAFNQSSHLATHKVIHT	6.0	3.0	unscreened	-	4237_19:23926717-23926717 A>C_PYTCEECGKAFNQSSHLATHKVIHT
10:135012740-135012740 C>G	0.0	4237	ADENOCARCINOMA	-	-	-	-	KNDC1	ENST00000368572,p.L910V	retained_intron, protein_coding, processed_transcript	ENST00000368572	nonsynonymous SNV	exon14	c.C2728G	p.L910V	RLIQEEFAFDGYLDNGLEALIMEPG	RLIQEEFAFDGYVDNGLEALIMEPG	6.0	8.0	unscreened	-	4237_10:135012740-135012740 C>G_RLIQEEFAFDGYVDNGLEALIMEPG
17:7012100-7012100 C>G	0.0	4237	ADENOCARCINOMA	-	-	-	-	ASGR2	NM_001201352,p.G78R|uc010clw.2,p.G59R|ENST00000254850,p.G59R|uc002geo.2,p.G78R|NM_080913,p.G59R|uc002geq.3,p.G59R|ENST00000574868,p.G78R	retained_intron, protein_coding, nonsense_mediated_decay	uc010clw.2	nonsynonymous SNV	exon3	c.G175C	p.G59R	FNILLLVVICVTGSQSAQLQAELRS	FNILLLVVICVTRSQSAQLQAELRS	5.0	9.0	-	-	4237_17:7012100-7012100 C>G_FNILLLVVICVTRSQSAQLQAELRS
1:84878086-84878086 C>A	0.0	4237	ADENOCARCINOMA	-	-	-	-	DNASE2B	NM_021233,p.T201N|uc001djt.1,p.T201N|ENST00000370665,p.T201N	protein_coding	uc001djt.1	nonsynonymous SNV	exon5	c.C602A	p.T201N	CNPNVYSCSIPATFHQELIHMPQLC	CNPNVYSCSIPANFHQELIHMPQLC	3.0	2.0	unscreened	-	4237_1:84878086-84878086 C>A_CNPNVYSCSIPANFHQELIHMPQLC
18:3131477-3131477 A>G	0.0	4237	ADENOCARCINOMA	-	-	-	-	MYOM1	NM_019856,p.L801S|NM_003803,p.L801S|uc002klq.3,p.L801S|ENST00000400569,p.L801S|uc002klp.3,p.L801S|ENST00000356443,p.L801S|ENST00000261606,p.L801S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002klq.3	nonsynonymous SNV	exon17	c.T2402C	p.L801S	NPVKGSRFTCHGLVTGQSYIFRVRA	NPVKGSRFTCHGSVTGQSYIFRVRA	5.0	2.0	unscreened	-	4237_18:3131477-3131477 A>G_NPVKGSRFTCHGSVTGQSYIFRVRA
17:7012100-7012100 C>G	0.0	4237	ADENOCARCINOMA	-	-	-	-	ASGR2	ENST00000380952,p.G78R|ENST00000446679,p.G59R|ENST00000355035,p.G78R	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000446679	nonsynonymous SNV	exon2	c.G175C	p.G59R	FNILLLVVICVTGSQSEGHGGAQLQ	FNILLLVVICVTRSQSEGHGGAQLQ	5.0	9.0	unscreened	-	4237_17:7012100-7012100 C>G_FNILLLVVICVTRSQSEGHGGAQLQ
3:108183615-108183615 T>A	0.0	4237	ADENOCARCINOMA	-	-	-	-	MYH15	NM_014981,p.K554M|uc003dxa.1,p.K554M|ENST00000273353,p.K554M	retained_intron, protein_coding, processed_transcript	uc003dxa.1	nonsynonymous SNV	exon16	c.A1661T	p.K554M	ILSILEEECMFPKATDLTFKTKLFD	ILSILEEECMFPMATDLTFKTKLFD	2.0	5.0	unscreened	-	4237_3:108183615-108183615 T>A_ILSILEEECMFPMATDLTFKTKLFD
1:53320240-53320240 C>T	0.0	4237	ADENOCARCINOMA	-	-	ID=COSM1343410;OCCURENCE=1(large_intestine),1(pancreas)	-	ZYG11A	NM_001004339,p.P65L|ENST00000371528,p.P65L|uc001cuk.2,p.P65L	protein_coding	uc001cuk.2	nonsynonymous SNV	exon2	c.C194T	p.P65L	LCSERPDGTLCLPEHWSFPQEVAER	LCSERPDGTLCLLEHWSFPQEVAER	4.0	10.0	-	-	4237_1:53320240-53320240 C>T_LCSERPDGTLCLLEHWSFPQEVAER
17:7012100-7012100 C>G	0.0	4237	ADENOCARCINOMA	-	-	-	-	ASGR2	uc002ger.3,p.G78R|uc002gep.3,p.G78R|uc002gen.1,p.G59R|NM_001181,p.G78R|NM_080914,p.G59R|NM_080912,p.G78R	retained_intron, protein_coding, nonsense_mediated_decay	uc002ger.3	nonsynonymous SNV	exon3	c.G232C	p.G78R	FNILLLVVICVTGSQSEGHRGAQLQ	FNILLLVVICVTRSQSEGHRGAQLQ	5.0	9.0	-	-	4237_17:7012100-7012100 C>G_FNILLLVVICVTRSQSEGHRGAQLQ
8:41553957-41553957 G>A	0.0	4237	ADENOCARCINOMA	-	-	-	2	ANK1	ENST00000379758,p.P962S|uc003xoh.3,p.P278S|NM_020476,p.P962S|ENST00000347528,p.P962S|ENST00000352337,p.P962S|ENST00000289734,p.P962S|uc003xoi.3,p.P962S|NM_001142446,p.P1003S|uc003xol.3,p.P962S|ENST00000396942,p.P962S|uc003xoj.3,p.P962S|uc003xok.3,p.P962S|ENST00000396945,p.P962S|ENST00000265709,p.P1003S|uc003xom.3,p.P1003S|NM_020475,p.P962S|NM_020477,p.P962S|NM_000037,p.P962S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xom.3	nonsynonymous SNV	exon27	c.C3007T	p.P1003S	TCRLVKPQKLSTPPPLAEEEGLASR	TCRLVKPQKLSTSPPLAEEEGLASR	4.0	9.0	-	-	4237_8:41553957-41553957 G>A_TCRLVKPQKLSTSPPLAEEEGLASR
17:55068499-55068499 ->T	0.0	4237	ADENOCARCINOMA	-	-	-	-	SCPEP1	NM_021626,p.V196fs|uc010wnk.2,p.V146fs|ENST00000262288,p.V196fs|ENST00000576154,p.V196fs|ENST00000572710,p.V166fs|ENST00000575395,p.V60fs|uc002iuv.4,p.V196fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wnk.2	frameshift insertion	exon6	c.437dupT	p.V146fs	IQRGTIKCNFAGVALGDSWISPVDS	IQRGTIKCNFAGVCLG	10.0	2.0	unscreened	-	4237_17:55068499-55068499 ->T_IQRGTIKCNFAGVCLG
10:135012740-135012740 C>G	0.0	4237	ADENOCARCINOMA	-	-	-	-	KNDC1	uc001llz.1,p.L910V|uc001lma.1,p.L845V|uc001lmb.1,p.L322V|NM_152643,p.L910V|ENST00000304613,p.L910V|ENST00000368571,p.L845V	retained_intron, protein_coding, processed_transcript	uc001lmb.1	nonsynonymous SNV	exon4	c.C964G	p.L322V	RLIQEEFAFDGYLDNGLEALIMGEY	RLIQEEFAFDGYVDNGLEALIMGEY	6.0	8.0	-	-	4237_10:135012740-135012740 C>G_RLIQEEFAFDGYVDNGLEALIMGEY
4:95206199-95206199 G>T	0.0	4237	ADENOCARCINOMA	-	-	-	-	SMARCAD1	NM_001128430,p.D1002Y|ENST00000457823,p.D1002Y|ENST00000509418,p.D570Y|NM_001128429,p.D1002Y|ENST00000359052,p.D1002Y|ENST00000354268,p.D1000Y|uc003htd.4,p.D1002Y|NM_001254949,p.D570Y|uc011cdw.2,p.D570Y|uc010ila.3,p.D865Y|uc003htc.4,p.D1000Y|uc003htb.4,p.D1002Y|NM_020159,p.D1000Y	retained_intron, protein_coding, nonsense_mediated_decay	uc011cdw.2	nonsynonymous SNV	exon15	c.G1708T	p.D570Y	LKINQQKLKLEQDMTTVDEGDEGSM	LKINQQKLKLEQYMTTVDEGDEGSM	7.0	4.0	unscreened	-	4237_4:95206199-95206199 G>T_LKINQQKLKLEQYMTTVDEGDEGSM
1:107867013-107867013 A>T	0.0	4237	ADENOCARCINOMA	-	-	-	-	NTNG1	uc001dvh.4,p.Q119L|ENST00000370072,p.Q119L|uc001dvc.4,p.Q119L|ENST00000370070,p.Q119L|ENST00000370068,p.Q119L|ENST00000370066,p.Q119L|uc001dvd.1,p.Q119L|uc001dvf.4,p.Q119L|NM_014917,p.Q119L|uc010out.2,p.Q119L|ENST00000370074,p.Q119L|ENST00000370067,p.Q119L|ENST00000370065,p.Q119L|ENST00000370073,p.Q119L|ENST00000370061,p.Q119L|ENST00000370071,p.Q119L|ENST00000542803,p.Q119L|NM_001113226,p.Q119L|NM_001113228,p.Q119L	protein_coding, processed_transcript	uc010out.2	nonsynonymous SNV	exon3	c.A356T	p.Q119L	FDFEGRHPSTFWQSATWKEYPKPLQ	FDFEGRHPSTFWLSATWKEYPKPLQ	4.0	1.0	unscreened	-	4237_1:107867013-107867013 A>T_FDFEGRHPSTFWLSATWKEYPKPLQ
12:123805079-123805079 T>G	1.0	4237	ADENOCARCINOMA	-	-	-	-	SBNO1	uc010tap.2,p.K856T|uc010tao.2,p.K855T|NM_018183,p.K855T|ENST00000420886,p.K856T|ENST00000602750,p.K855T|ENST00000267176,p.K855T|NM_001167856,p.K856T|ENST00000602398,p.K856T	protein_coding	uc010tap.2	nonsynonymous SNV	exon18	c.A2567C	p.K856T	SQDAVERAQQMKKDLLDKLEKLAED	SQDAVERAQQMKTDLLDKLEKLAED	7.0	4.0	-	-	4237_12:123805079-123805079 T>G_SQDAVERAQQMKTDLLDKLEKLAED
1:55183170-55183170 G>T	1.0	4237	ADENOCARCINOMA	-	-	-	-	TTC4	ENST00000371281,p.A79S|uc001cxx.4,p.A79S|NM_004623,p.A79S|uc001cxv.3,p.A90S|NM_001291333,p.A79S	retained_intron, protein_coding	uc001cxx.4	nonsynonymous SNV	exon3	c.G235T	p.A79S	IIFDEERSPEEQAKTYKDEGNDYFK	IIFDEERSPEEQSKTYKDEGNDYFK	8.0	6.0	-	-	4237_1:55183170-55183170 G>T_IIFDEERSPEEQSKTYKDEGNDYFK
19:53668850-53668850 C>A	0.0	4237	ADENOCARCINOMA	-	-	-	-	ZNF665	uc010eqm.1,p.C298F|ENST00000600412,p.C233F|ENST00000396424,p.C298F|NM_024733,p.C298F	protein_coding, processed_transcript	uc010eqm.1	nonsynonymous SNV	exon4	c.G893T	p.C298F	GEKPYKCKECGKCFTQNSHLASHRR	GEKPYKCKECGKFFTQNSHLASHRR	6.0	7.0	unscreened	-	4237_19:53668850-53668850 C>A_GEKPYKCKECGKFFTQNSHLASHRR
6:105726110-105726110 C>T	1.0	4237	ADENOCARCINOMA	-	-	-	-	PREP	ENST00000369110,p.G681E|NM_002726,p.G681E|uc003prc.3,p.G681E	protein_coding	uc003prc.3	nonsynonymous SNV	exon15	c.G2042A	p.G681E	PLLIHVDTKAGHGAGKPTAKVIEEV	PLLIHVDTKAGHEAGKPTAKVIEEV	8.0	4.0	-	-	4237_6:105726110-105726110 C>T_PLLIHVDTKAGHEAGKPTAKVIEEV
15:43892290-43892290 T>C	0.0	4237	ADENOCARCINOMA	-	-	-	-	STRC	uc001zsf.3,p.I1703V|ENST00000450892,p.I1703V|ENST00000541030,p.I930V|uc010bdl.3,p.I930V|uc001zse.3,p.I221V|NM_153700,p.I1703V	retained_intron, protein_coding, nonsense_mediated_decay	uc010bdl.3	nonsynonymous SNV	exon27	c.A2788G	p.I930V	IPPPKFAVVFSPIQLSSLTSAQAVA	IPPPKFAVVFSPVQLSSLTSAQAVA	4.0	7.0	-	-	4237_15:43892290-43892290 T>C_IPPPKFAVVFSPVQLSSLTSAQAVA
20:3557609-3557609 G>T	1.0	4237	ADENOCARCINOMA	-	-	-	-	ATRN	uc021vzz.1,p.W657L|ENST00000446916,p.W773L|ENST00000262919,p.W773L|uc002wim.2,p.W773L|uc002wil.2,p.W773L|NM_001207047,p.W657L|NM_139322,p.W773L|NM_139321,p.W773L	protein_coding	uc021vzz.1	nonsynonymous SNV	exon14	c.G1970T	p.W657L	SCRSCALDQNCQWEPRNQECIALPE	SCRSCALDQNCQLEPRNQECIALPE	8.0	3.0	-	-	4237_20:3557609-3557609 G>T_SCRSCALDQNCQLEPRNQECIALPE
6:158551462-158551462 T>G	1.0	4237	ADENOCARCINOMA	-	-	-	-	SERAC1	NM_032861,p.E265D|ENST00000367104,p.E265D|uc003qrc.2,p.E265D|ENST00000367101,p.E265D|ENST00000367102,p.E265D	protein_coding	uc003qrc.2	nonsynonymous SNV	exon9	c.A795C	p.E265D	GGNGLPYAESFGEVPSATVEMFCLE	GGNGLPYAESFGDVPSATVEMFCLE	6.0	3.0	-	-	4237_6:158551462-158551462 T>G_GGNGLPYAESFGDVPSATVEMFCLE
8:21964979-21964979 G>C	0.0	4237	ADENOCARCINOMA	-	-	-	-	NUDT18	ENST00000309188,p.I268M|NM_024815,p.I268M|ENST00000522405,p.I191M|uc003xaq.1,p.I268M	protein_coding	uc003xaq.1	nonsynonymous SNV	exon4	c.C804G	p.I268M	GLQHLGRDHSDGICLNVLVTVAFRS	GLQHLGRDHSDGMCLNVLVTVAFRS	7.0	5.0	unscreened	-	4237_8:21964979-21964979 G>C_GLQHLGRDHSDGMCLNVLVTVAFRS
1:89729561-89729561 G>T	0.0	4237	ADENOCARCINOMA	-	-	-	-	GBP5	NM_001134486,p.A407D|uc001dnc.3,p.A407D|ENST00000370459,p.A407D|ENST00000443807,p.A407D|ENST00000343435,p.A407D|uc001dne.1,p.A407D|NM_052942,p.A407D|uc001dnd.3,p.A407D	protein_coding, processed_transcript	uc001dne.1	nonsynonymous SNV	exon7	c.C1220A	p.A407D	KRNLEASSDYCSALLKDIFGPLEEA	KRNLEASSDYCSDLLKDIFGPLEEA	8.0	6.0	unscreened	-	4237_1:89729561-89729561 G>T_KRNLEASSDYCSDLLKDIFGPLEEA
9:70900911-70900911 ->A	0.0	4237	ADENOCARCINOMA	-	-	ID=COSM1462702;OCCURENCE=3(large_intestine)	-	CBWD3	uc004agl.4,p.Q61fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc004agl.4	frameshift insertion	exon5	c.184dupA	p.Q61fs	LGQILETQRSSLQKKLQHVPGTQPH	LGQILETQRSSLQKKTSACARNTTSP	8.0	10.0	-	-	4237_9:70900911-70900911 ->A_LGQILETQRSSLQKKTSACARNTTSP
9:70900911-70900911 ->A	0.0	4237	ADENOCARCINOMA	-	-	ID=COSM1462702;OCCURENCE=3(large_intestine)	-	CBWD3	NM_001291821,p.Q237fs|ENST00000377342,p.Q237fs|uc004agi.4,p.Q257fs|uc011lrp.2,p.Q237fs|ENST00000360171,p.Q257fs|NM_201453,p.Q257fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc011lrp.2	frameshift insertion	exon10	c.712dupA	p.Q237fs	LHAFDSLSGISLQKKLQHVPGTQPH	LHAFDSLSGISLQKKTSACARNTTSP	8.0	10.0	-	-	4237_9:70900911-70900911 ->A_LHAFDSLSGISLQKKTSACARNTTSP
2:242814636-242814636 C>A	0.0	4237	ADENOCARCINOMA	-	-	-	-	RTP5	ENST00000343216,p.S310Y|uc010fzu.1,p.S310Y|NM_173821,p.S310Y	protein_coding, nonsense_mediated_decay	uc010fzu.1	nonsynonymous SNV	exon2	c.C929A	p.S310Y	SPVGVAQGWGPISLNNGLVPVGKHT	SPVGVAQGWGPIYLNNGLVPVGKHT	1.0	1.0	unscreened	-	4237_2:242814636-242814636 C>A_SPVGVAQGWGPIYLNNGLVPVGKHT
17:11650978-11650978 C>A	0.0	4237	ADENOCARCINOMA	-	-	-	-	DNAH9	NM_001372,p.Q2169K|ENST00000454412,p.Q2169K|ENST00000262442,p.Q2169K|uc002gne.3,p.Q2169K|uc010coo.3,p.Q1463K	retained_intron, protein_coding, processed_transcript	uc010coo.3	nonsynonymous SNV	exon20	c.C4387A	p.Q1463K	KSQVLRSLHKTYQIMKRRPVWTDLN	KSQVLRSLHKTYKIMKRRPVWTDLN	2.0	9.0	unscreened	-	4237_17:11650978-11650978 C>A_KSQVLRSLHKTYKIMKRRPVWTDLN
4:9246595-9246595 C>T	0.0	4237	ADENOCARCINOMA	-	-	-	-	USP17L17	uc031sdl.1,p.H331Y|NM_001256857,p.H331Y|ENST00000511568,p.H331Y	protein_coding	uc031sdl.1	nonsynonymous SNV	exon1	c.C991T	p.H331Y	LYAVLVHAGWSCHNGHYFSYVKAQE	LYAVLVHAGWSCYNGHYFSYVKAQE	1.0	1.0	unscreened	-	4237_4:9246595-9246595 C>T_LYAVLVHAGWSCYNGHYFSYVKAQE
19:44981527-44981527 T>G	0.0	4237	ADENOCARCINOMA	-	-	-	-	ZNF180	ENST00000221327,p.S391R|uc002ozi.4,p.S364R|NM_001288760,p.S48R|NM_001278508,p.S366R|ENST00000592529,p.S364R|uc002ozh.4,p.S48R|NM_001288762,p.S48R|uc010ejm.3,p.S366R|NM_001288761,p.S48R|NM_013256,p.S391R|ENST00000391956,p.S366R|uc002ozg.4,p.S390R|NM_001291633,p.S364R|uc002ozf.4,p.S391R|NM_001278509,p.S364R|NM_001288759,p.S390R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ejm.3	nonsynonymous SNV	exon4	c.A1096C	p.S366R	KPYECSECGKSFSRSSHLVSHQRTH	KPYECSECGKSFRRSSHLVSHQRTH	6.0	4.0	unscreened	-	4237_19:44981527-44981527 T>G_KPYECSECGKSFRRSSHLVSHQRTH
1:205312449-205312449 T>C	0.0	4237	ADENOCARCINOMA	-	-	-	-	KLHDC8A	NM_001271865,p.K95R|ENST00000607826,p.K50R|uc001hcg.2,p.K95R|NM_001271864,p.K95R|ENST00000367155,p.K95R|NM_001271863,p.K95R|uc031prw.1,p.K95R|NM_018203,p.K95R|ENST00000539253,p.K95R|ENST00000367156,p.K95R|uc031prx.1,p.K95R|uc001hcf.2,p.K95R	protein_coding, processed_transcript	uc031prx.1	nonsynonymous SNV	exon3	c.A284G	p.K95R	VIGGVGTNQLPLKVVEMYNIDEGKW	VIGGVGTNQLPLRVVEMYNIDEGKW	4.0	4.0	unscreened	-	4237_1:205312449-205312449 T>C_VIGGVGTNQLPLRVVEMYNIDEGKW
3:195507913-195507913 G>T	1.0	4237	ADENOCARCINOMA	-	-	-	2	MUC4	NM_018406,p.A3513E|ENST00000463781,p.A3513E|ENST00000462323,p.A3513E|ENST00000466475,p.A3513E|ENST00000480843,p.A3513E|uc021xjp.1,p.A3513E|ENST00000470451,p.A3513E|ENST00000478156,p.A3513E|ENST00000479406,p.A3513E|ENST00000477086,p.A3513E|ENST00000477756,p.A3513E|ENST00000475231,p.A3513E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C10538A	p.A3513E	DTSTLPVTGASSASTGHATPLPVTD	DTSTLPVTGASSESTGHATPLPVTD	9.0	8.0	unscreened	-	4237_3:195507913-195507913 G>T_DTSTLPVTGASSESTGHATPLPVTD
6:43250594-43250594 C>T	0.0	4237	ADENOCARCINOMA	-	-	-	-	TTBK1	ENST00000259750,p.R706W|NM_032538,p.R706W|uc003ouq.1,p.R706W	protein_coding	uc003ouq.1	nonsynonymous SNV	exon14	c.C2116T	p.R706W	DYRERARLLNRVRRVGFSHMLLTTP	DYRERARLLNRVWRVGFSHMLLTTP	3.0	2.0	unscreened	-	4237_6:43250594-43250594 C>T_DYRERARLLNRVWRVGFSHMLLTTP
2:32475944-32475944 C>A	0.0	4237	ADENOCARCINOMA	-	-	-	-	NLRC4	uc002roj.2,p.C330F|NM_021209,p.C330F|ENST00000360906,p.C330F|uc002roi.3,p.C330F|NM_001199138,p.C330F|ENST00000404025,p.C330F|ENST00000402280,p.C330F|uc021vfq.1,p.C330F|NM_001199139,p.C330F	protein_coding	uc021vfq.1	nonsynonymous SNV	exon4	c.G989T	p.C330F	AEGLLLQIQKSRCLRNLMKTPLFVV	AEGLLLQIQKSRFLRNLMKTPLFVV	5.0	3.0	unscreened	-	4237_2:32475944-32475944 C>A_AEGLLLQIQKSRFLRNLMKTPLFVV
14:23865606-23865606 A>-	0.0	4237	ADENOCARCINOMA	-	-	-	-	MYH6	ENST00000405093,p.L772fs|NM_002471,p.L772fs|ENST00000356287,p.L772fs|uc001wjv.3,p.L772fs	retained_intron, protein_coding	uc001wjv.3	frameshift deletion	exon20	c.2316delT	p.L772fs	FGHTKVFFKAGLLGLLEEMRDERLSR	FGHTKVFFKAGLLGCWRRCGMRG	1.0	8.0	unscreened	-	4237_14:23865606-23865606 A>-_FGHTKVFFKAGLLGCWRRCGMRG
13:25745334-25745334 G>C	0.0	4237	ADENOCARCINOMA	-	-	-	-	AMER2	ENST00000381853,p.P142A|ENST00000357816,p.P142A|NM_152704,p.P142A|ENST00000515384,p.P142A|uc001uqc.3,p.P142A|NM_199138,p.P142A|uc001uqb.3,p.P142A|uc001uqa.3,p.P142A	protein_coding	uc001uqc.3	nonsynonymous SNV	exon2	c.C424G	p.P142A	GGGGGGRPNPGPPRAAGPGGGSLAS	GGGGGGRPNPGPARAAGPGGGSLAS	3.0	1.0	unscreened	-	4237_13:25745334-25745334 G>C_GGGGGGRPNPGPARAAGPGGGSLAS
19:57022963-57022963 T>G	0.0	4237	ADENOCARCINOMA	-	-	-	-	ZNF471	ENST00000308031,p.V8G|ENST00000591759,p.V8G|uc002qnh.3,p.V8G|ENST00000591537,p.V8G|NM_020813,p.V8G	protein_coding, processed_transcript	uc002qnh.3	nonsynonymous SNV	exon2	c.T23G	p.V8G	MNVEVVKVMPQDLVTFKDVA	MNVEVVKGMPQDLVTFKDVA	6.0	9.0	-	-	4237_19:57022963-57022963 T>G_MNVEVVKGMPQDLVTFKDVA
2:186668042-186668042 C>T	0.0	4237	ADENOCARCINOMA	-	-	-	-	FSIP2	uc002upl.3,p.S4759L|ENST00000424728,p.S4670L|ENST00000343098,p.S4759L|NM_173651,p.S4759L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon17	c.C14276T	p.S4759L	AEELIHLITGEFSKAQVSIIDNTEE	AEELIHLITGEFLKAQVSIIDNTEE	4.0	1.0	unscreened	-	4237_2:186668042-186668042 C>T_AEELIHLITGEFLKAQVSIIDNTEE
7:1275713-1275713 C>G	0.0	4237	ADENOCARCINOMA	-	-	-	-	UNCX	NM_001080461,p.S232R|ENST00000316333,p.S232R|uc011jvw.2,p.S232R	protein_coding	uc011jvw.2	nonsynonymous SNV	exon3	c.C696G	p.S232R	HSPGGLSLHSAPSSDSDSGGGGLSP	HSPGGLSLHSAPRSDSDSGGGGLSP	1.0	10.0	unscreened	-	4237_7:1275713-1275713 C>G_HSPGGLSLHSAPRSDSDSGGGGLSP
X:1422847-1422847 C>T	1.0	4237	ADENOCARCINOMA	-	-	-	-	CSF2RA	ENST00000486791,p.T281I	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000486791	nonsynonymous SNV	exon10	c.C842T	p.T281I	LLVLTTGTSALCTFMCS	LLVLTTGTSALCIFMCS	9.0	8.0	unscreened	-	4237_X:1422847-1422847 C>T_LLVLTTGTSALCIFMCS
7:100679698-100679698 A>C	0.0	4237	ADENOCARCINOMA	-	-	-	-	MUC17	uc003uxp.1,p.E1667D|ENST00000379439,p.E1667D|ENST00000306151,p.E1667D|NM_001040105,p.E1667D	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.A5001C	p.E1667D	PVDSNSPVITSTEVSSSPTPAEGTS	PVDSNSPVITSTDVSSSPTPAEGTS	1.0	8.0	unscreened	-	4237_7:100679698-100679698 A>C_PVDSNSPVITSTDVSSSPTPAEGTS
X:27997812-27997812 A>C	0.0	4237	ADENOCARCINOMA	-	-	-	-	DCAF8L1	uc004dbx.1,p.M547R|ENST00000441525,p.M547R|NM_001017930,p.M547R	protein_coding	uc004dbx.1	nonsynonymous SNV	exon1	c.T1640G	p.M547R	DNLNYTDSFDNRMLRFFVRHLLQRA	DNLNYTDSFDNRRLRFFVRHLLQRA	1.0	2.0	unscreened	-	4237_X:27997812-27997812 A>C_DNLNYTDSFDNRRLRFFVRHLLQRA
X:114425889-114425889 C>T	0.0	4237	ADENOCARCINOMA	-	-	-	-	RBMXL3	NM_001145346,p.R629C|ENST00000424776,p.R629C|uc011mte.1,p.R629C	protein_coding	uc011mte.1	nonsynonymous SNV	exon1	c.C1885T	p.R629C	SSSWSHRYGGGGRYEEYRGRSLDAN	SSSWSHRYGGGGCYEEYRGRSLDAN	1.0	6.0	unscreened	-	4237_X:114425889-114425889 C>T_SSSWSHRYGGGGCYEEYRGRSLDAN
16:71482500-71482500 A>T	0.0	4237	ADENOCARCINOMA	-	-	-	-	ZNF23	uc002fai.3,p.F515L|uc002fah.3,p.F476L|ENST00000357254,p.F476L|ENST00000417828,p.F476L|uc002fag.3,p.F418L|uc010vmf.2,p.F418L|ENST00000428724,p.F418L|ENST00000393539,p.F476L|ENST00000564528,p.F418L|NM_145911,p.F476L|uc002faf.3,p.F476L|uc002fad.3,p.F418L	protein_coding, processed_transcript	uc010vmf.2	nonsynonymous SNV	exon3	c.T1254A	p.F418L	MRHQRIHTGEKPFECNECGRCFTSK	MRHQRIHTGEKPLECNECGRCFTSK	6.0	5.0	unscreened	-	4237_16:71482500-71482500 A>T_MRHQRIHTGEKPLECNECGRCFTSK
19:53057378-53057378 G>T	0.0	4237	ADENOCARCINOMA	-	-	-	-	ZNF808	NM_001039886,p.E403D|ENST00000359798,p.E403D|ENST00000487863,p.E334D|uc010epq.1,p.E403D	protein_coding, nonsense_mediated_decay	uc010epq.1	nonsynonymous SNV	exon5	c.G1209T	p.E403D	RIHSGEKTYKCNECGKAFNHQSSLA	RIHSGEKTYKCNDCGKAFNHQSSLA	6.0	4.0	unscreened	-	4237_19:53057378-53057378 G>T_RIHSGEKTYKCNDCGKAFNHQSSLA
2:21238046-21238046 C>T	0.0	4237	ADENOCARCINOMA	-	-	-	-	APOB	ENST00000233242,p.D1199N|NM_000384,p.D1199N|uc002red.3,p.D1199N	protein_coding	uc002red.3	nonsynonymous SNV	exon23	c.G3595A	p.D1199N	KKMTSNFPVDLSDYPKSLHMYANRL	KKMTSNFPVDLSNYPKSLHMYANRL	1.0	1.0	unscreened	-	4237_2:21238046-21238046 C>T_KKMTSNFPVDLSNYPKSLHMYANRL
8:51664667-51664667 C>T	0.0	4237	ADENOCARCINOMA	-	-	-	-	SNTG1	NM_001287813,p.A464V|uc010lxy.1,p.A464V|ENST00000518864,p.A464V|uc003xqs.1,p.A464V|NM_018967,p.A464V|ENST00000522124,p.A464V	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lxy.1	nonsynonymous SNV	exon19	c.C1391T	p.A464V	FLFQNPDTKQIEAKELEFSNLFAVL	FLFQNPDTKQIEVKELEFSNLFAVL	1.0	6.0	unscreened	-	4237_8:51664667-51664667 C>T_FLFQNPDTKQIEVKELEFSNLFAVL
6:72962535-72962535 G>A	0.0	4237	ADENOCARCINOMA	-	-	-	-	RIMS1	ENST00000523963,p.V398I|NM_001168409,p.V317I|uc010kar.3,p.V317I|uc011dyc.2,p.V398I|uc003pge.3,p.V141I|ENST00000425662,p.V317I|uc010kas.1,p.V383I|NM_001168410,p.V383I|uc011dyd.2,p.V383I|NM_014989,p.V924I|ENST00000453976,p.V317I|ENST00000491071,p.V924I|uc003pgb.4,p.V550I|ENST00000521978,p.V924I|uc003pgd.3,p.V141I|uc003pgg.3,p.V141I|uc003pga.4,p.V924I|NM_001168408,p.V398I|ENST00000370420,p.V149I|ENST00000518273,p.V924I|ENST00000264839,p.V924I|ENST00000517827,p.V383I|uc003pgc.3,p.V550I	retained_intron, protein_coding, processed_transcript	uc011dyd.2	nonsynonymous SNV	exon11	c.G1147A	p.V383I	YEVDDGIGVVPPVGYRSSARESKST	YEVDDGIGVVPPIGYRSSARESKST	4.0	3.0	unscreened	-	4237_6:72962535-72962535 G>A_YEVDDGIGVVPPIGYRSSARESKST
7:5428761-5428761 C>A	1.0	4237	ADENOCARCINOMA	-	-	-	-	TNRC18	uc003soi.4,p.A232S|ENST00000430969,p.A232S|uc010ksx.1,p.A158S|NM_001080495,p.A232S|ENST00000399537,p.A232S	retained_intron, protein_coding	uc010ksx.1	nonsynonymous SNV	exon5	c.G472T	p.A158S	FGKKDPRARGEEASGPRGVVDLTQE	FGKKDPRARGEESSGPRGVVDLTQE	10.0	5.0	-	-	4237_7:5428761-5428761 C>A_FGKKDPRARGEESSGPRGVVDLTQE
9:15724967-15724967 A>G	0.0	4237	ADENOCARCINOMA	-	-	-	-	CCDC171	uc003zmd.3,p.D562G|NM_173550,p.D562G|uc003zme.3,p.D477G|uc010mih.1,p.D570G|ENST00000380701,p.D562G|uc011lmu.2,p.D570G|ENST00000297641,p.D562G	protein_coding, processed_transcript	uc011lmu.2	nonsynonymous SNV	exon13	c.A1709G	p.D570G	SELQKLSQAFHKDAEEKLTFLHTLY	SELQKLSQAFHKGAEEKLTFLHTLY	5.0	2.0	unscreened	-	4237_9:15724967-15724967 A>G_SELQKLSQAFHKGAEEKLTFLHTLY
16:1279945-1279945 T>C	1.0	4237	ADENOCARCINOMA	-	-	-	-	TPSB2	NM_024164,p.N3S|uc002cky.3,p.N3S|ENST00000430512,p.N3S	protein_coding, processed_transcript, polymorphic_pseudogene	uc002cky.3	nonsynonymous SNV	exon2	c.A8G	p.N3S	MLNLLLLALPVLASR	MLSLLLLALPVLASR	9.0	2.0	-	-	4237_16:1279945-1279945 T>C_MLSLLLLALPVLASR
14:88652072-88652072 ->T	0.0	4237	ADENOCARCINOMA	-	-	-	-	KCNK10	ENST00000340700,p.T475fs|uc001xwo.3,p.T475fs|NM_138317,p.T480fs|uc001xwn.3,p.T480fs|ENST00000312350,p.T480fs|uc001xwm.3,p.T480fs|NM_138318,p.T480fs|NM_021161,p.T475fs|ENST00000319231,p.T480fs	protein_coding	uc001xwo.3	frameshift insertion	exon7	c.1423dupA	p.T475fs	KTLPEDVQKIYKTFRNYSLDEEKKE	KTLPEDVQKIYKNLPELLPGRGEERGGDGKDV	2.0	1.0	unscreened	-	4237_14:88652072-88652072 ->T_KTLPEDVQKIYKNLPELLPGRGEERGGDGKDV
X:153453340-153453340 T>C	0.0	4237	ADENOCARCINOMA	-	rs1065419	ID=COSM3964944;OCCURENCE=1(lung)	-	OPN1MW,OPN1MW2	ENST00000369935,p.I65T|NM_001048181,p.I65T|uc004fkb.3,p.I65T|NM_000513,p.I65T	protein_coding, processed_transcript	uc004fkb.3	nonsynonymous SNV	exon2	c.T194C	p.I65T	YHLTSVWMIFVVIASVFTNGLVLAA	YHLTSVWMIFVVTASVFTNGLVLAA	1.0	8.0	unscreened	-	4237_X:153453340-153453340 T>C_YHLTSVWMIFVVTASVFTNGLVLAA
12:4747350-4747350 C>T	0.0	4237	ADENOCARCINOMA	-	-	-	-	AKAP3	ENST00000540967,p.V5I|uc031qfv.1,p.V5I|ENST00000545990,p.V5I|ENST00000228850,p.V5I|NM_006422,p.V5I|ENST00000536414,p.V5I|NM_001278309,p.V5I|uc001qnb.4,p.V5I	protein_coding, processed_transcript	uc031qfv.1	nonsynonymous SNV	exon4	c.G13A	p.V5I	MSEKVDWLQSQNGVCKV	MSEKIDWLQSQNGVCKV	4.0	9.0	-	-	4237_12:4747350-4747350 C>T_MSEKIDWLQSQNGVCKV
X:153607870-153607870 A>-	1.0	4237	ADENOCARCINOMA	-	-	-	-	EMD	uc004fkl.3,p.D9fs|ENST00000369835,p.D9fs|ENST00000428228,p.D9fs|NM_000117,p.D9fs|ENST00000369842,p.D9fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004fkl.3	frameshift deletion	exon1	c.26delA	p.D9fs	MDNYADLSDTELTTLLRRYNIP	MDNYADLSVPS	9.0	3.0	-	-	4237_X:153607870-153607870 A>-_MDNYADLSVPS
2:179770102-179770102 C>T	0.0	4237	ADENOCARCINOMA	-	-	-	-	CCDC141	uc002ung.3,p.A407T|uc002une.2,p.A407T|ENST00000446116,p.A342T|ENST00000420890,p.A407T|ENST00000443758,p.A407T|NM_173648,p.A407T|ENST00000409284,p.A407T	protein_coding, processed_transcript	uc002ung.3	nonsynonymous SNV	exon8	c.G1219A	p.A407T	ELHRKIKDCTTDALQKGQTLISQVD	ELHRKIKDCTTDTLQKGQTLISQVD	5.0	4.0	unscreened	-	4237_2:179770102-179770102 C>T_ELHRKIKDCTTDTLQKGQTLISQVD
2:179517037-179517037 T>A	0.0	4237	ADENOCARCINOMA	-	-	-	-	TTN	NM_001256850,p.K11548N|NM_001267550,p.K13055N|ENST00000342992,p.K10621N|ENST00000591111,p.K11548N|ENST00000589042,p.K13055N|NM_133378,p.K10621N|uc021vsy.2,p.K10621N|uc031rqc.1,p.K13055N|uc031rqd.1,p.K11548N	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon158	c.A34644T	p.K11548N	VPEAPKEVVPEKKVPVPPPKKPEVP	VPEAPKEVVPEKNVPVPPPKKPEVP	6.0	1.0	unscreened	-	4237_2:179517037-179517037 T>A_VPEAPKEVVPEKNVPVPPPKKPEVP
17:38519755-38519755 C>T	1.0	4237	ADENOCARCINOMA	-	-	-	-	GJD3	uc010cwz.3,p.G105S|ENST00000578689,p.G105S|ENST00000337376,p.G105S|NM_152219,p.G105S	protein_coding	uc010cwz.3	nonsynonymous SNV	exon1	c.G313A	p.G105S	VVYSMHRAGKEAGGAEAAAQCAPGL	VVYSMHRAGKEASGAEAAAQCAPGL	7.0	7.0	-	-	4237_17:38519755-38519755 C>T_VVYSMHRAGKEASGAEAAAQCAPGL
7:100642866-100642866 C>A	0.0	4237	ADENOCARCINOMA	-	-	-	-	MUC12	uc003uxo.3,p.P3008T|ENST00000536621,p.P3008T|ENST00000379442,p.P3151T|NM_001164462,p.P3008T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.C9022A	p.P3008T	TFQSWPSSSDTTPSPPGTTAAPVEV	TFQSWPSSSDTTTSPPGTTAAPVEV	5.0	7.0	-	-	4237_7:100642866-100642866 C>A_TFQSWPSSSDTTTSPPGTTAAPVEV
9:43844153-43844153 G>A	0.0	4237	ADENOCARCINOMA	-	rs2721472	-	-	CNTNAP3B	ENST00000377564,p.G496D|uc004ada.2,p.G496D|NM_001201380,p.G496D	protein_coding, processed_transcript, nonsense_mediated_decay	uc004ada.2	nonsynonymous SNV	exon10	c.G1487A	p.G496D	DSGDTYYFGGCLGNSSGSGCKSPLG	DSGDTYYFGGCLDNSSGSGCKSPLG	5.0	8.0	unscreened	-	4237_9:43844153-43844153 G>A_DSGDTYYFGGCLDNSSGSGCKSPLG
4:126239093-126239093 T>A	0.0	4237	ADENOCARCINOMA	-	-	-	1	FAT4	NM_024582,p.N509K|ENST00000394329,p.N509K|uc003ifj.4,p.N509K|NM_001291303,p.N509K|NM_001291285,p.N509K	retained_intron, protein_coding	uc003ifj.4	nonsynonymous SNV	exon1	c.T1527A	p.N509K	ISATDGDSGLNANLRYSIVSGNGLG	ISATDGDSGLNAKLRYSIVSGNGLG	5.0	5.0	unscreened	-	4237_4:126239093-126239093 T>A_ISATDGDSGLNAKLRYSIVSGNGLG
6:32169917-32169917 G>T	0.0	4237	ADENOCARCINOMA	-	-	-	-	NOTCH4	NM_004557,p.P1231T|uc003obb.3,p.P1231T|ENST00000375023,p.P1231T	retained_intron, protein_coding, processed_transcript	uc003obb.3	nonsynonymous SNV	exon21	c.C3691A	p.P1231T	RCWLLFRDGQCHPQCDSEECLFDGY	RCWLLFRDGQCHTQCDSEECLFDGY	8.0	1.0	unscreened	-	4237_6:32169917-32169917 G>T_RCWLLFRDGQCHTQCDSEECLFDGY
7:133861794-133861794 G>T	0.0	4237	ADENOCARCINOMA	-	-	-	-	LRGUK	uc003vrm.1,p.K362N|NM_144648,p.K362N|ENST00000285928,p.K362N	protein_coding, processed_transcript	uc003vrm.1	nonsynonymous SNV	exon9	c.G1086T	p.K362N	IFMLLRLTELDQKKIKVEEKVSAVN	IFMLLRLTELDQNKIKVEEKVSAVN	3.0	7.0	-	-	4237_7:133861794-133861794 G>T_IFMLLRLTELDQNKIKVEEKVSAVN
18:51795960-51795960 A>G	0.0	4237	ADENOCARCINOMA	-	-	-	-	POLI	ENST00000579534,p.D15G|uc010xds.2,p.D15G|ENST00000406285,p.D15G|NM_007195,p.D15G|uc002lfj.4,p.D15G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xds.2	nonsynonymous SNV	exon1	c.A44G	p.D15G	KLGVEPEEEGGGDDDEEDAEAWAME	KLGVEPEEEGGGGDDEEDAEAWAME	7.0	8.0	unscreened	-	4237_18:51795960-51795960 A>G_KLGVEPEEEGGGGDDEEDAEAWAME
19:36330193-36330193 A>T	0.0	4237	ADENOCARCINOMA	-	-	-	-	NPHS1	ENST00000378910,p.L1019M|NM_004646,p.L1019M|uc002oby.3,p.L1019M|ENST00000353632,p.L1019M	retained_intron, protein_coding	uc002oby.3	nonsynonymous SNV	exon22	c.T3055A	p.L1019M	TRYRVWLLASNALGDSGLADKGTQL	TRYRVWLLASNAMGDSGLADKGTQL	1.0	3.0	unscreened	-	4237_19:36330193-36330193 A>T_TRYRVWLLASNAMGDSGLADKGTQL
12:43944968-43944968 C>T	0.0	4237	ADENOCARCINOMA	-	-	-	-	ADAMTS20	NM_025003,p.R66H|ENST00000553158,p.R66H|ENST00000389420,p.R66H|uc010skx.2,p.R66H	protein_coding	uc010skx.2	nonsynonymous SNV	exon2	c.G197A	p.R66H	VFPQSHHFSRQKRSSEALEPMPFRT	VFPQSHHFSRQKHSSEALEPMPFRT	1.0	5.0	unscreened	-	4237_12:43944968-43944968 C>T_VFPQSHHFSRQKHSSEALEPMPFRT
8:32621628-32621628 G>T	0.0	4237	ADENOCARCINOMA	-	-	-	1	NRG1	uc003xiv.2,p.S544I|NM_013957,p.S541I|ENST00000356819,p.S549I|uc022ats.1,p.S494I|ENST00000539990,p.S387I|ENST00000523534,p.S617I|ENST00000405005,p.S544I|uc003xiu.2,p.S549I|uc003xja.2,p.S355I|uc003xiw.2,p.S541I|uc011lbh.1,p.S387I|uc010lvr.2,p.S286I|NM_013964,p.S544I|ENST00000338921,p.S552I|ENST00000287842,p.S541I|ENST00000287840,p.S544I|ENST00000519301,p.S494I|NM_013956,p.S549I|ENST00000287845,p.S515I|uc010lvs.2,p.S286I	retained_intron, protein_coding, processed_transcript	uc022ats.1	nonsynonymous SNV	exon11	c.G1481T	p.S494I	EPAQEPVKKLANSRRAKRTKPNGHI	EPAQEPVKKLANIRRAKRTKPNGHI	5.0	2.0	unscreened	-	4237_8:32621628-32621628 G>T_EPAQEPVKKLANIRRAKRTKPNGHI
6:72962535-72962535 G>A	0.0	4237	ADENOCARCINOMA	-	-	-	-	RIMS1	uc010kaq.3,p.G398S|uc003pgi.3,p.G141S|ENST00000520567,p.G924S|ENST00000401910,p.G398S|ENST00000522291,p.G924S|ENST00000517960,p.G924S|uc003pgh.3,p.G141S|uc011dyb.2,p.G550S|ENST00000348717,p.G924S|uc003pgf.3,p.G141S|NM_001168407,p.G398S	retained_intron, protein_coding, processed_transcript	uc011dyb.2	nonsynonymous SNV	exon11	c.G1648A	p.G550S	YEVDDGIGVVPPGYRSSARESKSTT	YEVDDGIGVVPPSYRSSARESKSTT	4.0	3.0	unscreened	-	4237_6:72962535-72962535 G>A_YEVDDGIGVVPPSYRSSARESKSTT
15:32688635-32688635 C>G	0.0	4237	ADENOCARCINOMA	-	rs4042395	-	-	GOLGA8K	NM_001282493,p.K328N|ENST00000512626,p.K328N	protein_coding	NM_001282493	nonsynonymous SNV	exon12	c.G984C	p.K328N	ERVAGELQAQVKKNQRISLLNQRQE	ERVAGELQAQVKNNQRISLLNQRQE	4.0	5.0	unscreened	-	4237_15:32688635-32688635 C>G_ERVAGELQAQVKNNQRISLLNQRQE
21:31709400-31709400 C>A	0.0	4237	ADENOCARCINOMA	-	-	-	-	KRTAP27-1	NM_001077711,p.C196F|uc002ynx.1,p.C196F|ENST00000382835,p.C196F	protein_coding	uc002ynx.1	nonsynonymous SNV	exon1	c.G587T	p.C196F	QLLESSPGVEPTCCVTGGSQLPSK	QLLESSPGVEPTFCVTGGSQLPSK	1.0	4.0	unscreened	-	4237_21:31709400-31709400 C>A_QLLESSPGVEPTFCVTGGSQLPSK
16:77396101-77396101 A>T	0.0	4237	ADENOCARCINOMA	-	-	-	-	ADAMTS18	ENST00000282849,p.S373T|uc002ffe.1,p.S69T|NM_199355,p.S373T|uc002ffc.4,p.S373T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ffe.1	nonsynonymous SNV	exon6	c.T205A	p.S69T	ADQSLNSFCQWQSALIGKNGKRHDH	ADQSLNSFCQWQTALIGKNGKRHDH	4.0	4.0	unscreened	-	4237_16:77396101-77396101 A>T_ADQSLNSFCQWQTALIGKNGKRHDH
17:38975329-38975329 ->CCGCCGCCGGAGCTT	0.0	4237	ADENOCARCINOMA	-	-	-	-	KRT10	NM_000421,p.G486delinsGSSGGG|uc002hvi.3,p.G486delinsGSSGGG|ENST00000269576,p.G486delinsGSSGGG	protein_coding	uc002hvi.3	nonframeshift insertion	exon7	c.1457_1458insAAGCTCCGGCGGCGG	p.G486delinsGSSGGG	GGGSSGGGSSGGGHGGGHGGSSGGG	GGGSSGGGSSGGGSSGGGHGGGHGGSSGGG	7.0	6.0	unscreened	-	4237_17:38975329-38975329 ->CCGCCGCCGGAGCTT_GGGSSGGGSSGGGSSGGGHGGGHGGSSGGG
12:55887070-55887070 ->A	0.0	4237	ADENOCARCINOMA	-	-	-	-	OR6C68	ENST00000379662,p.L308fs|uc031qhq.1,p.L303fs|NM_001005519,p.L303fs|ENST00000548615,p.L303fs	protein_coding	uc031qhq.1	frameshift insertion	exon1	c.910dupA	p.L303fs	RNEQVKQAFHDSLKKIAFRLKK	RNEQVKQAFHDSLKKNCISFKKV	1.0	4.0	unscreened	-	4237_12:55887070-55887070 ->A_RNEQVKQAFHDSLKKNCISFKKV
20:1963706-1963706 C>G	0.0	4237	ADENOCARCINOMA	-	-	-	-	PDYN	ENST00000540134,p.A9P|NM_001190898,p.A9P|NM_001190899,p.A9P|ENST00000539905,p.A9P|NM_001190892,p.A9P|uc002wfv.3,p.A9P|uc021vzs.1,p.A9P|NM_001190900,p.A9P|uc010gaj.3,p.A9P|uc021vzt.1,p.A9P|ENST00000217305,p.A9P|uc021vzu.1,p.A9P|NM_024411,p.A9P	protein_coding	uc021vzu.1	nonsynonymous SNV	exon2	c.G25C	p.A9P	MAWQGLVLAACLLMFPSTTAD	MAWQGLVLPACLLMFPSTTAD	1.0	1.0	unscreened	-	4237_20:1963706-1963706 C>G_MAWQGLVLPACLLMFPSTTAD
8:87738779-87738779 G>T, 8:87738780-87738780 G>T	0.0	4237	ADENOCARCINOMA	-	-	ID=COSM3952011;OCCURENCE=1(lung)	-	CNGB3	uc003ydx.3,p.P106H|NM_019098,p.P106H|ENST00000320005,p.P106H	protein_coding, processed_transcript	uc003ydx.3	nonsynonymous SNV	exon3	c.C317A, c.C318A	p.P106Q	PTGTVPEQKEMDPGKEGPNSPQNKP	PTGTVPEQKEMDQGKEGPNSPQNKP	1.0	6.0	unscreened	Dinculeotide variant, 8:87738779-87738779 G>T, residue 13 P>Q	4237_8:87738779-87738779 G>T, 8:87738780-87738780 G>T_PTGTVPEQKEMDQGKEGPNSPQNKP
19:41063124-41063124 C>G	0.0	4237	ADENOCARCINOMA	-	-	-	-	SPTBN4	ENST00000392025,p.L572V|ENST00000352632,p.L1829V|uc002onx.3,p.L1829V|ENST00000595535,p.L1829V|uc002onz.3,p.L1829V|ENST00000338932,p.L1829V|uc010egx.3,p.L572V|NM_025213,p.L505V|ENST00000598249,p.L1829V|uc002ooa.3,p.L505V|NM_020971,p.L1829V|ENST00000392023,p.L505V|uc002ony.3,p.L1829V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010egx.3	nonsynonymous SNV	exon14	c.C1714G	p.L572V	AELLELMGTRAQLLAASRELHKFFS	AELLELMGTRAQVLAASRELHKFFS	5.0	2.0	unscreened	-	4237_19:41063124-41063124 C>G_AELLELMGTRAQVLAASRELHKFFS
2:96992926-96992926 C>A	0.0	4237	ADENOCARCINOMA	-	-	-	-	ITPRIPL1	uc010yuk.2,p.T178N|NM_001008949,p.T186N|ENST00000536814,p.T178N|ENST00000439118,p.T186N|NM_178495,p.T194N|uc002svy.3,p.T194N|ENST00000542887,p.T178N|NM_001163524,p.T178N|uc010yul.2,p.T178N|NM_001163523,p.T178N|ENST00000361124,p.T194N|uc002svx.3,p.T186N	protein_coding	uc010yul.2	nonsynonymous SNV	exon2	c.C533A	p.T178N	HYVQNAIRDLPCTCEFVESFVDDLI	HYVQNAIRDLPCNCEFVESFVDDLI	5.0	2.0	unscreened	-	4237_2:96992926-96992926 C>A_HYVQNAIRDLPCNCEFVESFVDDLI
15:84581936-84581936 C>T	0.0	4237	ADENOCARCINOMA	-	-	-	-	ADAMTSL3	ENST00000286744,p.T598M|uc010bmt.1,p.T598M|uc002bjz.4,p.T598M|NM_207517,p.T598M|ENST00000567476,p.T598M|NM_001301110,p.T598M	retained_intron, protein_coding, processed_transcript	uc010bmt.1	nonsynonymous SNV	exon16	c.C1793T	p.T598M	VREVKCRVLLTFTQTETELPEEECE	VREVKCRVLLTFMQTETELPEEECE	5.0	3.0	unscreened	-	4237_15:84581936-84581936 C>T_VREVKCRVLLTFMQTETELPEEECE
2:84912455-84912455 C>A	0.0	4237	ADENOCARCINOMA	-	-	-	-	DNAH6	ENST00000237449,p.L2308I|ENST00000389394,p.L2308I|uc010fgb.3,p.L2308I|NM_001370,p.L2308I	retained_intron, protein_coding, processed_transcript	uc010fgb.3	nonsynonymous SNV	exon43	c.C6922A	p.L2308I	NLRDLSKCVQGILQCDPGTIREEIQ	NLRDLSKCVQGIIQCDPGTIREEIQ	2.0	4.0	unscreened	-	4237_2:84912455-84912455 C>A_NLRDLSKCVQGIIQCDPGTIREEIQ
17:16665726-16665726 T>C	0.0	4237	ADENOCARCINOMA	-	-	-	-	CCDC144A	ENST00000399273,p.S1256P|uc002gql.1,p.S772P|uc002gqk.1,p.S1256P|ENST00000448331,p.S1256P|ENST00000443444,p.S1256P|ENST00000360524,p.S1256P|ENST00000456009,p.S1022P|NM_014695,p.S1256P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gql.1	nonsynonymous SNV	exon11	c.T2314C	p.S772P	KTQMELTIKDLESEISRIKTSQADF	KTQMELTIKDLEPEISRIKTSQADF	3.0	1.0	unscreened	-	4237_17:16665726-16665726 T>C_KTQMELTIKDLEPEISRIKTSQADF
1:167096467-167096467 C>A	0.0	4237	ADENOCARCINOMA	-	-	-	-	DUSP27	uc001geb.1,p.T700N|ENST00000361200,p.T700N|ENST00000271385,p.T700N|ENST00000443333,p.T700N|NM_001080426,p.T700N	protein_coding, processed_transcript	uc001geb.1	nonsynonymous SNV	exon5	c.C2099A	p.T700N	LSQAASNIAGCSTSNPTTPLPNLPV	LSQAASNIAGCSNSNPTTPLPNLPV	2.0	1.0	unscreened	-	4237_1:167096467-167096467 C>A_LSQAASNIAGCSNSNPTTPLPNLPV
6:170871035-170871046 CAGCAACAGCAA>-	0.0	4237	ADENOCARCINOMA	-	-	-	-	TBP	uc011ehg.1,p.71_74del|ENST00000423353,p.71_74del|ENST00000421512,p.71_74del|uc003qxu.3,p.71_74del|ENST00000540980,p.51_54del|ENST00000230354,p.71_74del|NM_001172085,p.51_54del|uc011ehf.2,p.51_54del|NM_003194,p.71_74del|uc003qxt.3,p.71_74del|ENST00000392092,p.71_74del	protein_coding	uc011ehg.1	nonframeshift deletion	exon2	c.211_222del	p.71_74del	QQQQQQQQQQQQQQQQQQQQQQQQQQ	QQQQQQQQQQQQQQQQQQQQQQQQQ	9.0	10.0	unscreened	-	4237_6:170871035-170871046 CAGCAACAGCAA>-_QQQQQQQQQQQQQQQQQQQQQQQQQ
15:90320135-90320146 GGGCAGGGGCAG>-	0.0	4237	ADENOCARCINOMA	0.89	rs199821487	ID=COSM1290455;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	MESP2	ENST00000341735,p.183_186del|NM_001039958,p.183_186del|uc002bon.3,p.183_186del	protein_coding, processed_transcript	uc002bon.3	nonframeshift deletion	exon1	c.547_558del	p.183_186del	AEAQTQAEGQGQGQGQGQGQGQGQGQ	AEAQTQAEGQGQGQGQGQGQGQGQG	6.0	10.0	unscreened	-	4237_15:90320135-90320146 GGGCAGGGGCAG>-_AEAQTQAEGQGQGQGQGQGQGQGQG
15:22928198-22928198 A>G	0.0	4238	COLON	-	-	-	-	CYFIP1	NM_001287810,p.I93V|ENST00000560848,p.I93V|ENST00000561274,p.I93V|ENST00000561185,p.I93V|uc001yut.3,p.I93V|uc001yus.3,p.I93V|ENST00000313077,p.I93V|NM_014608,p.I93V|uc010aya.1,p.I121V	retained_intron, protein_coding, nonsense_mediated_decay	uc010aya.1	nonsynonymous SNV	exon3	c.A361G	p.I121V	VMLYTWRSCSRAIPQVKCNEQPNRV	VMLYTWRSCSRAVPQVKCNEQPNRV	8.0	5.0	CD8	-	4238_15:22928198-22928198 A>G_VMLYTWRSCSRAVPQVKCNEQPNRV
2:183846001-183846001 C>A	0.0	4238	COLON	-	-	-	-	NCKAP1	NM_205842,p.D444Y|ENST00000361354,p.D438Y|NM_013436,p.D438Y|ENST00000360982,p.D444Y|uc002upc.4,p.D438Y|uc002upb.4,p.D444Y	retained_intron, protein_coding, processed_transcript	uc002upc.4	nonsynonymous SNV	exon13	c.G1312T	p.D438Y	MQRYYVQYLSGFDAVVLNELVQNLS	MQRYYVQYLSGFYAVVLNELVQNLS	8.0	6.0	CD8	-	4238_2:183846001-183846001 C>A_MQRYYVQYLSGFYAVVLNELVQNLS
20:48467309-48467309 T>G	0.0	4238	COLON	0.01	-	-	-	SLC9A8	ENST00000417961,p.F182C|uc010zyj.2,p.F182C|NM_001260491,p.F182C	protein_coding, processed_transcript	uc010zyj.2	nonsynonymous SNV	exon7	c.T545G	p.F182C	GGGIYFLGQGFFFVCVCVFVCFILQ	GGGIYFLGQGFFCVCVCVFVCFILQ	6.0	6.0	-	-	4238_20:48467309-48467309 T>G_GGGIYFLGQGFFCVCVCVFVCFILQ
7:95039413-95039413 A>T	1.0	4238	COLON	-	-	-	-	PON2	ENST00000455123,p.S165R|ENST00000222572,p.S165R|ENST00000433091,p.S153R|uc003unw.3,p.S78R|ENST00000536183,p.S186R|NM_000305,p.S165R|uc003unv.3,p.S165R|uc003unu.3,p.S153R|NM_001018161,p.S153R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003unw.3	nonsynonymous SNV	exon6	c.T234A	p.S78R	LHLKTVKHELLPSVNDITAVGPAHF	LHLKTVKHELLPRVNDITAVGPAHF	9.0	2.0	-	-	4238_7:95039413-95039413 A>T_LHLKTVKHELLPRVNDITAVGPAHF
8:42183579-42183579 C>T	1.0	4238	COLON	-	-	-	1	IKBKB	uc003xow.2,p.T693M|NM_001190720,p.T691M|uc022auj.1,p.T18M|ENST00000520835,p.T691M|ENST00000520810,p.T693M|uc003xox.2,p.T414M|NM_001242778,p.T634M|uc011lcr.2,p.T634M|NM_001556,p.T693M|ENST00000379708,p.T470M|uc010lxj.2,p.T470M|uc011lcq.2,p.T691M|ENST00000416505,p.T634M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022auj.1	nonsynonymous SNV	exon1	c.C53T	p.T18M	LSQPGQLMSQPSTASNSLPEPAKKS	LSQPGQLMSQPSMASNSLPEPAKKS	9.0	8.0	-	-	4238_8:42183579-42183579 C>T_LSQPGQLMSQPSMASNSLPEPAKKS
20:2097686-2097686 G>C	0.0	4238	COLON	-	-	-	-	STK35	ENST00000381482,p.A423P|NM_080836,p.A423P|ENST00000493263,p.A284P|uc002wfw.4,p.A423P|ENST00000246032,p.A290P	protein_coding, nonsense_mediated_decay	uc002wfw.4	nonsynonymous SNV	exon3	c.G1267C	p.A423P	WLSSACGSDFYMAPEVWEGHYTAKA	WLSSACGSDFYMPPEVWEGHYTAKA	8.0	3.0	-	-	4238_20:2097686-2097686 G>C_WLSSACGSDFYMPPEVWEGHYTAKA
17:7577538-7577538 C>T	1.0	4238	COLON	-	-	ID=COSM99021,COSM99020,COSM10662,COSM99602,COSM3356964,COSM1640830;OCCURENCE=37(urinary_tract),1(adrenal_gland),2(kidney),17(pancreas),8(liver),5(prostate),154(large_intestine),4(biliary_tract),72(breast),13(skin),7(small_intestine),12(endometrium),1(pituitary),32(ovary),3(cervix),58(haematopoietic_and_lymphoid_tissue),1(pleura),5(thyroid),1(peritoneum),18(lung),37(upper_aerodigestive_tract),2(NS),4(bone),3(vulva),37(oesophagus),45(central_nervous_system),37(stomach)	1	TP53	ENST00000413465,p.R248Q|NM_001126115,p.R116Q|uc010cnf.2,p.R89Q|NM_001126113,p.R248Q|NM_001276760,p.R209Q|NM_001126116,p.R116Q|uc002gij.3,p.R209Q|uc002gii.2,p.R89Q|uc002gig.1,p.R248Q|ENST00000359597,p.R248Q|NM_001276699,p.R89Q|uc002gin.3,p.R155Q|NM_001276696,p.R209Q|NM_001126118,p.R209Q|NM_001126114,p.R248Q|ENST00000455263,p.R248Q|NM_001126112,p.R248Q|ENST00000509690,p.R116Q|NM_000546,p.R248Q|uc010cng.2,p.R89Q|ENST00000445888,p.R248Q|NM_001276698,p.R89Q|uc002gio.3,p.R116Q|NM_001276761,p.R209Q|ENST00000269305,p.R248Q|NM_001276697,p.R89Q|uc002gih.3,p.R248Q|NM_001126117,p.R116Q|NM_001276695,p.R209Q|ENST00000420246,p.R248Q|uc031qyq.1,p.R209Q	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon6	c.G626A	p.R209Q	YMCNSSCMGGMNRRPILTIITLEDS	YMCNSSCMGGMNQRPILTIITLEDS	10.0	10.0	-	-	4238_17:7577538-7577538 C>T_YMCNSSCMGGMNQRPILTIITLEDS
4:36292206-36292206 C>G	0.0	4238	COLON	-	-	-	-	DTHD1	NM_001170700,p.P242A|NM_001136536,p.P77A|uc021xne.2,p.P242A|ENST00000357504,p.P77A|ENST00000507598,p.P282A|ENST00000456874,p.P242A|uc011bxy.3,p.P77A	protein_coding, processed_transcript	uc021xne.2	nonsynonymous SNV	exon2	c.C724G	p.P242A	EKRVPFPIGIAIPFTARYRGNYRDI	EKRVPFPIGIAIAFTARYRGNYRDI	1.0	7.0	-	-	4238_4:36292206-36292206 C>G_EKRVPFPIGIAIAFTARYRGNYRDI
5:95998863-95998863 A>T	0.0	4238	COLON	-	-	-	-	CAST	ENST00000514845,p.Y8F|ENST00000514055,p.Y8F|ENST00000506811,p.Y8F|ENST00000508608,p.Y8F|uc011cuo.1,p.Y8F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cuo.1	nonsynonymous SNV	exon1	c.A23T	p.Y8F	MAFASWWYKTHVSEKTSESP	MAFASWWFKTHVSEKTSESP	10.0	1.0	-	-	4238_5:95998863-95998863 A>T_MAFASWWFKTHVSEKTSESP
7:27224144-27224171 GCTGCCGCCGCCGTCTCCCGGCAGCCGC>-	0.0	4238	COLON	-	-	-	1	HOXA11	uc003syx.3,p.G198fs|NM_005523,p.G198fs|ENST00000006015,p.G198fs	protein_coding	uc003syx.3	frameshift deletion	exon1	c.593_620del	p.G198fs	APATSSSDSGGGGGCRETAAAAEEK	APATSSSDSGGGERRKSGGGAPRAAAAPSRLPATLRTRPAAPVANAPAKSAAPIPSTRSESWNGSSSSASTLTKRSACNCPACSTSLIVKSKSGFRTGE	8.0	1.0	-	-	4238_7:27224144-27224171 GCTGCCGCCGCCGTCTCCCGGCAGCCGC>-_APATSSSDSGGGERRKSGGGAPRAAAAPSRLPATLRTRPAAPVANAPAKSAAPIPSTRSESWNGSSSSASTLTKRSACNCPACSTSLIVKSKSGFRTGE
4:143007331-143007331 ->T	0.0	4238	COLON	-	-	ID=COSM1427289;OCCURENCE=1(large_intestine)	-	INPP4B	ENST00000513000,p.R818fs|NM_003866,p.R818fs|ENST00000511838,p.R633fs|uc003iix.4,p.R818fs|NM_001101669,p.R818fs|uc003iiw.4,p.R818fs|uc011chn.1,p.R633fs|ENST00000308502,p.R818fs|ENST00000508116,p.R818fs|ENST00000509777,p.R818fs|ENST00000262992,p.R818fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc011chn.1	frameshift insertion	exon17	c.1897dupA	p.R633fs	LENLLQNIQSKKRKNVEIMWLAATI	LENLLQNIQSKKKKECRNYVAGCNDLPQTEWYSFHLL	2.0	10.0	unscreened	-	4238_4:143007331-143007331 ->T_LENLLQNIQSKKKKECRNYVAGCNDLPQTEWYSFHLL
1:214820685-214820685 A>C	1.0	4238	COLON	-	-	-	-	CENPF	ENST00000366955,p.K2591T|uc001hkm.3,p.K2591T|NM_016343,p.K2591T	protein_coding, processed_transcript	uc001hkm.3	nonsynonymous SNV	exon13	c.A7772C	p.K2591T	LQDTLEVLQSSYKNLENELELTKMD	LQDTLEVLQSSYTNLENELELTKMD	7.0	6.0	-	-	4238_1:214820685-214820685 A>C_LQDTLEVLQSSYTNLENELELTKMD
10:53458046-53458046 C>G	0.0	4238	COLON	-	-	-	-	CSTF2T	ENST00000331173,p.A422P|NM_015235,p.A422P|uc001jjp.3,p.A422P	protein_coding	uc001jjp.3	nonsynonymous SNV	exon1	c.G1264C	p.A422P	RGGRDSRAMETRAMETEVLETRVME	RGGRDSRAMETRPMETEVLETRVME	8.0	1.0	-	-	4238_10:53458046-53458046 C>G_RGGRDSRAMETRPMETEVLETRVME
1:20991157-20991157 G>A	0.0	4238	COLON	-	-	-	-	KIF17	NM_020816,p.R1004C|uc001bdp.4,p.R281C|NM_001122819,p.R1003C|ENST00000247986,p.R1004C|uc001bds.4,p.R1003C|uc009vpx.3,p.R374C|ENST00000400463,p.R1003C|NM_001287212,p.R904C|uc001bdr.4,p.R1004C|ENST00000375044,p.R904C	protein_coding, processed_transcript	uc009vpx.3	nonsynonymous SNV	exon9	c.C1120T	p.R374C	TQAPEMPQPRPFRLESLDIPFTKAK	TQAPEMPQPRPFCLESLDIPFTKAK	4.0	10.0	-	-	4238_1:20991157-20991157 G>A_TQAPEMPQPRPFCLESLDIPFTKAK
9:109690138-109690138 G>T	0.0	4238	COLON	-	-	-	-	ZNF462	ENST00000374686,p.E198D|uc004bcz.3,p.E1315D|ENST00000441147,p.E160D|NM_021224,p.E1315D|uc004bda.3,p.E1163D|ENST00000457913,p.E1315D|ENST00000277225,p.E1315D|uc010mto.3,p.E1163D	protein_coding, processed_transcript	uc010mto.3	nonsynonymous SNV	exon1	c.G3489T	p.E1163D	FLDGLIEAGYHCEWCIYSHTEPNGL	FLDGLIEAGYHCDWCIYSHTEPNGL	6.0	5.0	-	-	4238_9:109690138-109690138 G>T_FLDGLIEAGYHCDWCIYSHTEPNGL
7:100636960-100636960 C>T	0.0	4238	COLON	-	-	ID=COSM3831372,COSM3831373;OCCURENCE=1(breast)	-	MUC12	NM_001164462,p.T1039I|ENST00000379442,p.T1182I|ENST00000536621,p.T1039I|uc003uxo.3,p.T1039I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.C3116T	p.T1039I	STPTTHFPASSTTSGHSEKSTIFHS	STPTTHFPASSTISGHSEKSTIFHS	10.0	8.0	-	-	4238_7:100636960-100636960 C>T_STPTTHFPASSTISGHSEKSTIFHS
6:31543648-31543648 G>A	0.0	4238	COLON	-	-	-	-	TNF	NM_000594,p.A44T|ENST00000449264,p.A44T|uc003nui.4,p.A44T	protein_coding	uc003nui.4	nonsynonymous SNV	exon1	c.G130A	p.A44T	FLSLFSFLIVAGATTLFCLLHFGVI	FLSLFSFLIVAGTTTLFCLLHFGVI	1.0	8.0	-	-	4238_6:31543648-31543648 G>A_FLSLFSFLIVAGTTTLFCLLHFGVI
16:3433076-3433076 G>A	0.0	4238	COLON	-	-	-	-	ZSCAN32	NM_017810,p.R412W|uc002cux.4,p.R623W|NM_001284528,p.R335W|ENST00000304926,p.R412W|NM_001284529,p.R335W|NM_001284527,p.R624W|ENST00000439568,p.R335W|uc002cuy.4,p.R335W|uc002cuz.3,p.R412W|ENST00000396852,p.R624W|ENST00000396846,p.R624W|uc010uwx.2,p.R335W	retained_intron, protein_coding, nonsense_mediated_decay	uc010uwx.2	nonsynonymous SNV	exon3	c.C1003T	p.R335W	KRFNNSSQFSAHRRIHTGESPYKCA	KRFNNSSQFSAHWRIHTGESPYKCA	6.0	4.0	-	-	4238_16:3433076-3433076 G>A_KRFNNSSQFSAHWRIHTGESPYKCA
1:198713260-198713260 A>C	0.0	4238	COLON	-	-	-	1	PTPRC	ENST00000594404,p.L762F|NM_080921,p.L764F|ENST00000352140,p.L875F|uc001gut.2,p.L764F|ENST00000367376,p.L923F|ENST00000442510,p.L925F|uc001gur.2,p.L925F|NM_002838,p.L925F|ENST00000348564,p.L764F	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc001gut.2	nonsynonymous SNV	exon23	c.A2292C	p.L764F	NQFGETEVNLSELHPYLHNMKKRDP	NQFGETEVNLSEFHPYLHNMKKRDP	2.0	1.0	-	-	4238_1:198713260-198713260 A>C_NQFGETEVNLSEFHPYLHNMKKRDP
22:38690408-38690408 G>A	1.0	4238	COLON	-	-	-	-	CSNK1E	ENST00000403904,p.R340W|NM_152221,p.R340W|ENST00000400206,p.R340W|ENST00000359867,p.R340W|ENST00000396832,p.R340W|uc003avm.2,p.R340W|NM_001894,p.R340W|uc003avk.3,p.R340W|uc003avj.3,p.R340W|NM_001289912,p.R340W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003avm.2	nonsynonymous SNV	exon12	c.C1018T	p.R340W	LPPGPPTGATANRLRSAAEPVASTP	LPPGPPTGATANWLRSAAEPVASTP	10.0	8.0	-	-	4238_22:38690408-38690408 G>A_LPPGPPTGATANWLRSAAEPVASTP
11:6790081-6790081 C>A	0.0	4238	COLON	-	-	-	-	OR2AG2	NM_001004490,p.M36I|uc001meq.1,p.M36I|ENST00000338569,p.M36I	protein_coding	uc001meq.1	nonsynonymous SNV	exon1	c.G108T	p.M36I	PELLYATFTILYMLALTSNGLLLLA	PELLYATFTILYILALTSNGLLLLA	1.0	2.0	unscreened	-	4238_11:6790081-6790081 C>A_PELLYATFTILYILALTSNGLLLLA
12:25398284-25398284 C>T	0.0	4238	COLON	-	-	ID=COSM521,COSM1135366;OCCURENCE=1(salivary_gland),171(endometrium),265(ovary),20(soft_tissue),19(urinary_tract),1(kidney),2323(pancreas),15(liver),3(eye),22(prostate),321(biliary_tract),6237(large_intestine),18(breast),24(skin),58(small_intestine),25(upper_aerodigestive_tract),10(oesophagus),4(central_nervous_system),93(stomach),2(testis),19(cervix),114(haematopoietic_and_lymphoid_tissue),15(gastrointestinal_tract_(site_indeterminate)),37(thyroid),737(lung),25(peritoneum)	1	KRAS	ENST00000311936,p.G12D|NM_004985,p.G12D|ENST00000556131,p.G12D|ENST00000557334,p.G12D|NM_033360,p.G12D|uc001rgq.1,p.G12D|ENST00000256078,p.G12D|uc001rgp.1,p.G12D	protein_coding	uc001rgq.1	nonsynonymous SNV	exon2	c.G35A	p.G12D	MTEYKLVVVGAGGVGKSALTIQLI	MTEYKLVVVGADGVGKSALTIQLI	5.0	9.0	-	-	4238_12:25398284-25398284 C>T_MTEYKLVVVGADGVGKSALTIQLI
1:176838058-176838058 C>T	0.0	4238	COLON	-	-	-	-	ASTN1	ENST00000367654,p.R1198Q|NM_001286164,p.R1190Q|NM_207108,p.R1190Q|uc001glc.3,p.R1190Q|ENST00000424564,p.R1190Q|NM_004319,p.R1190Q|ENST00000367657,p.R1190Q|uc001gld.1,p.R1190Q|ENST00000361833,p.R1190Q|uc001glb.1,p.R1190Q	protein_coding, processed_transcript	uc001gld.1	nonsynonymous SNV	exon22	c.G3569A	p.R1190Q	NTLLDLGSPTLHRVLYHYNQHYESF	NTLLDLGSPTLHQVLYHYNQHYESF	1.0	9.0	-	-	4238_1:176838058-176838058 C>T_NTLLDLGSPTLHQVLYHYNQHYESF
1:32745698-32745698 A>C	0.0	4238	COLON	-	-	-	1	LCK	ENST00000373564,p.K412T|NM_001042771,p.K405T|uc001bux.3,p.K405T|NM_005356,p.K405T|ENST00000336890,p.K405T|ENST00000333070,p.K435T|uc001bva.3,p.K412T|uc010ohc.1,p.K449T|uc001buy.3,p.K405T|uc001buz.3,p.K435T	retained_intron, protein_coding	uc010ohc.1	nonsynonymous SNV	exon11	c.A1346C	p.K449T	EYTAREGAKFPIKWTAPEAINYGTF	EYTAREGAKFPITWTAPEAINYGTF	4.0	8.0	-	-	4238_1:32745698-32745698 A>C_EYTAREGAKFPITWTAPEAINYGTF
12:25055897-25055897 G>A	0.0	4238	COLON	-	-	-	-	BCAT1	ENST00000539282,p.A9V|uc010six.2,p.A9V|NM_001178093,p.A9V	protein_coding, processed_transcript	uc010six.2	nonsynonymous SNV	exon1	c.C26T	p.A9V	MASPLRSAAALARQDCSNGCS	MASPLRSAVALARQDCSNGCS	2.0	5.0	-	-	4238_12:25055897-25055897 G>A_MASPLRSAVALARQDCSNGCS
5:153035406-153035406 G>A	0.0	4238	COLON	-	-	-	-	GRIA1	uc011dcz.2,p.G235S|NM_000827,p.G225S|uc011dcw.2,p.G145S|NM_001258021,p.G235S|NM_001258020,p.G130S|uc011dcx.2,p.G156S|NM_001258019,p.G145S|NM_001114183,p.G225S|NM_001258022,p.G235S|ENST00000285900,p.G225S|ENST00000518783,p.G235S|uc010jia.1,p.G205S|ENST00000448073,p.G235S|ENST00000521843,p.G156S|ENST00000518142,p.G145S|NM_001258023,p.G156S|uc003lva.4,p.G225S|uc011dcy.2,p.G235S|ENST00000340592,p.G225S|uc003luz.4,p.G130S|uc003luy.4,p.G225S	retained_intron, protein_coding, processed_transcript	uc011dcz.2	nonsynonymous SNV	exon5	c.G703A	p.G235S	LGQIIKLEKNGIGYHYILANLGFMD	LGQIIKLEKNGISYHYILANLGFMD	1.0	9.0	-	-	4238_5:153035406-153035406 G>A_LGQIIKLEKNGISYHYILANLGFMD
5:176764405-176764405 C>T	1.0	4238	COLON	-	-	-	-	LMAN2	uc003mge.3,p.D212N|ENST00000502560,p.D205N|ENST00000513877,p.D141N|ENST00000515209,p.D212N|NM_006816,p.D212N|ENST00000303127,p.D212N	retained_intron, protein_coding, processed_transcript	uc003mge.3	nonsynonymous SNV	exon5	c.G634A	p.D212N	AGCTADFRNRDHDTFLAVRYSRGRL	AGCTADFRNRDHNTFLAVRYSRGRL	10.0	2.0	-	-	4238_5:176764405-176764405 C>T_AGCTADFRNRDHNTFLAVRYSRGRL
2:43814072-43814072 T>G	0.0	4238	COLON	-	-	-	-	THADA	uc002rtb.2,p.E124D|ENST00000474159,p.E124D|ENST00000405975,p.E124D|ENST00000402360,p.E124D|uc002rtc.4,p.E124D|ENST00000404790,p.E124D|NM_001271643,p.E124D|uc002rsw.4,p.E124D|NM_001083953,p.E124D|uc002rtd.3,p.E124D|NM_022065,p.E124D|ENST00000405006,p.E124D|ENST00000398653,p.E124D|NM_001271644,p.E124D|uc002rsx.4,p.E124D|ENST00000403856,p.E124D|ENST00000408045,p.E124D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002rtd.3	nonsynonymous SNV	exon6	c.A372C	p.E124D	PEAMHRFTSRLQEELNTTDLYSYRK	PEAMHRFTSRLQDELNTTDLYSYRK	9.0	1.0	-	-	4238_2:43814072-43814072 T>G_PEAMHRFTSRLQDELNTTDLYSYRK
19:49703682-49703682 G>A	0.0	4238	COLON	-	-	-	-	TRPM4	uc010emv.3,p.S809N|uc002pmw.3,p.S924N|ENST00000252826,p.S924N|ENST00000355712,p.S570N|uc010yal.2,p.S570N|NM_001195227,p.S779N|uc002pmx.3,p.S750N|NM_017636,p.S924N|uc010yak.2,p.S388N|ENST00000427978,p.S779N|uc002pmy.3,p.S266N|uc010emu.3,p.S779N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yal.2	nonsynonymous SNV	exon13	c.G1709A	p.S570N	VNKQLGPKIVIVSKMMKDVFFFLFF	VNKQLGPKIVIVNKMMKDVFFFLFF	9.0	8.0	-	-	4238_19:49703682-49703682 G>A_VNKQLGPKIVIVNKMMKDVFFFLFF
2:155102360-155102360 G>C	0.0	4238	COLON	-	-	ID=COSM373630;OCCURENCE=1(lung)	-	GALNT13	uc002tyt.4,p.S241T|ENST00000409237,p.S241T|ENST00000392825,p.S241T|uc002tyr.4,p.S241T|NM_001301627,p.S241T|NM_052917,p.S241T|uc010foc.1,p.S60T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010foc.1	nonsynonymous SNV	exon5	c.G179C	p.S60T	RKTVVCPIIDVISDDTFEYMAGSDM	RKTVVCPIIDVITDDTFEYMAGSDM	1.0	3.0	-	-	4238_2:155102360-155102360 G>C_RKTVVCPIIDVITDDTFEYMAGSDM
4:100129884-100129884 C>G	0.0	4238	COLON	-	-	-	-	ADH6	NM_000672,p.D257H|uc003huo.2,p.D257H|ENST00000394897,p.D257H|ENST00000407820,p.D48H|uc003hup.4,p.D257H|uc011cef.1,p.D48H|uc010ile.3,p.D257H|NM_001102470,p.D257H|ENST00000394899,p.D257H|ENST00000508558,p.D193H|ENST00000237653,p.D257H|ENST00000512708,p.D30H	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cef.1	nonsynonymous SNV	exon4	c.G142C	p.D48H	QDLKKPIQEVLFDMTDAGIDFCFEA	QDLKKPIQEVLFHMTDAGIDFCFEA	1.0	1.0	-	-	4238_4:100129884-100129884 C>G_QDLKKPIQEVLFHMTDAGIDFCFEA
5:137476522-137476522 G>A	0.0	4238	COLON	-	-	-	-	BRD8	NM_139199,p.R1163C|ENST00000427976,p.R269C|ENST00000254900,p.R1163C|uc003lcf.1,p.R1163C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003lcf.1	nonsynonymous SNV	exon26	c.C3487T	p.R1163C	TSLKRNLSKGRIRTMAQFLRDLMLM	TSLKRNLSKGRICTMAQFLRDLMLM	9.0	2.0	-	-	4238_5:137476522-137476522 G>A_TSLKRNLSKGRICTMAQFLRDLMLM
4:121774625-121774625 C>G	0.0	4238	COLON	-	-	-	-	PRDM5	NM_001300823,p.R83P|ENST00000264808,p.R83P|ENST00000515109,p.R83P|uc003ido.3,p.R83P|NM_018699,p.R83P|uc010inf.3,p.R83P|NM_001300824,p.R83P|ENST00000394435,p.R83P|uc003idp.1,p.R83P|uc010ine.3,p.R83P|uc003idn.3,p.R83P|ENST00000428209,p.R83P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010inf.3	nonsynonymous SNV	exon3	c.G248C	p.R83P	LDATNPRHSNWLRFVHEAPSQEQKN	LDATNPRHSNWLPFVHEAPSQEQKN	5.0	10.0	-	-	4238_4:121774625-121774625 C>G_LDATNPRHSNWLPFVHEAPSQEQKN
14:95033567-95033567 T>G	0.0	4238	COLON	-	-	-	-	SERPINA4	NM_001289033,p.L304V|uc001ydl.3,p.L304V|NM_001289032,p.L341V|uc001ydk.3,p.L304V|uc010avd.3,p.L341V|ENST00000557004,p.L304V|ENST00000298841,p.L304V|NM_006215,p.L304V|ENST00000555095,p.L304V	protein_coding	uc010avd.3	nonsynonymous SNV	exon3	c.T1021G	p.L341V	VLTPEMLMRWNNLLRKRNFYKKLEL	VLTPEMLMRWNNVLRKRNFYKKLEL	4.0	1.0	-	-	4238_14:95033567-95033567 T>G_VLTPEMLMRWNNVLRKRNFYKKLEL
10:55943272-55943272 T>G	0.0	4238	COLON	-	-	-	-	PCDH15	NM_001142773,p.T486P|ENST00000395438,p.T508P|ENST00000373965,p.T515P|uc010qib.1,p.T486P|uc001jjv.1,p.T486P|uc010qhv.1,p.T508P|uc001jju.1,p.T508P|uc010qhq.2,p.T513P|ENST00000395433,p.T486P|ENST00000409834,p.T119P|NM_001142763,p.T513P|uc021pqv.1,p.T508P|ENST00000320301,p.T508P|ENST00000395430,p.T508P|ENST00000373957,p.T486P|uc021pqx.1,p.T508P|ENST00000395432,p.T471P|NM_001142765,p.T508P|uc021pqy.1,p.T508P|ENST00000373955,p.T508P|uc010qhr.2,p.T508P|ENST00000437009,p.T508P|uc010qia.1,p.T486P|ENST00000414778,p.T513P|ENST00000395446,p.T508P|uc010qht.2,p.T515P|uc010qhy.1,p.T513P|uc021pqz.1,p.T486P|NM_001142766,p.T508P|NM_001142764,p.T508P|ENST00000395445,p.T515P|uc010qhz.1,p.T508P|uc010qhw.1,p.T471P|uc001jjw.3,p.T508P|uc021pqw.1,p.T520P|uc010qhx.1,p.T508P|NM_033056,p.T508P|NM_001142767,p.T471P|NM_001142768,p.T486P|ENST00000448885,p.T508P|ENST00000361849,p.T508P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqz.1	nonsynonymous SNV	exon11	c.A1456C	p.T486P	NIQVMDANDNTPTFPEISYDVYVYT	NIQVMDANDNTPPFPEISYDVYVYT	1.0	1.0	-	-	4238_10:55943272-55943272 T>G_NIQVMDANDNTPPFPEISYDVYVYT
2:210742691-210742691 G>A	0.0	4238	COLON	-	-	-	-	UNC80	NM_182587,p.R1282Q|ENST00000439458,p.R1287Q|uc021vvx.1,p.R1282Q|uc010zjc.1,p.R1287Q|ENST00000272845,p.R1282Q|uc002vdk.2,p.R448Q|NM_032504,p.R1287Q	retained_intron, protein_coding, processed_transcript	uc021vvx.1	nonsynonymous SNV	exon24	c.G3845A	p.R1282Q	KLFYQWGDAIGVRLNELCHGESESP	KLFYQWGDAIGVQLNELCHGESESP	1.0	6.0	-	-	4238_2:210742691-210742691 G>A_KLFYQWGDAIGVQLNELCHGESESP
7:101944514-101944514 G>C	0.0	4238	COLON	-	-	-	-	SH2B2	ENST00000536178,p.R270T|ENST00000444095,p.R227T|uc011kko.2,p.R270T|ENST00000306803,p.R227T	protein_coding	uc011kko.2	nonsynonymous SNV	exon2	c.G809C	p.R270T	SAQWQKCRLLLRRAVAEERFRLEFF	SAQWQKCRLLLRTAVAEERFRLEFF	6.0	9.0	-	-	4238_7:101944514-101944514 G>C_SAQWQKCRLLLRTAVAEERFRLEFF
10:7409670-7409670 G>A	0.0	4238	COLON	-	-	-	-	SFMBT2	ENST00000379711,p.A126V|uc010qay.2,p.A126V|ENST00000379713,p.A126V|uc009xio.2,p.A126V|ENST00000397167,p.A126V|NM_001029880,p.A126V|ENST00000361972,p.A126V|uc001ijn.2,p.A126V|uc001ijo.2,p.A126V|ENST00000397160,p.A126V|NM_001018039,p.A126V	protein_coding	uc010qay.2	nonsynonymous SNV	exon4	c.C377T	p.A126V	DRRADFWCDVVIADLHPVGWCTQNN	DRRADFWCDVVIVDLHPVGWCTQNN	2.0	9.0	-	-	4238_10:7409670-7409670 G>A_DRRADFWCDVVIVDLHPVGWCTQNN
9:6460703-6460703 C>G	0.0	4238	COLON	-	-	-	-	UHRF2	uc003zjy.3,p.Q259E|ENST00000276893,p.Q259E|NM_152896,p.Q259E|ENST00000450508,p.Q36E|uc003zka.1,p.Q36E|ENST00000468435,p.Q259E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zka.1	nonsynonymous SNV	exon2	c.C106G	p.Q36E	VVMVNYNVESPGQRGFWFDAEITTL	VVMVNYNVESPGERGFWFDAEITTL	6.0	2.0	-	-	4238_9:6460703-6460703 C>G_VVMVNYNVESPGERGFWFDAEITTL
1:46977907-46977907 C>T	0.0	4238	COLON	0.0027	-	-	-	DMBX1	uc001cpx.3,p.A297V|uc001cpw.3,p.A292V|NM_172225,p.A292V|ENST00000360032,p.A292V|ENST00000371956,p.A297V|NM_147192,p.A297V	protein_coding	uc001cpx.3	nonsynonymous SNV	exon4	c.C890T	p.A297V	SFEVGGPAPAAAAAAAAVPYLGVNM	SFEVGGPAPAAAVAAAAVPYLGVNM	1.0	10.0	-	-	4238_1:46977907-46977907 C>T_SFEVGGPAPAAAVAAAAVPYLGVNM
10:3824340-3824340 A>C	0.0	4238	COLON	-	-	-	1	KLF6	ENST00000469435,p.F57V|uc001iha.3,p.F57V|ENST00000497571,p.F57V|uc001ihb.2,p.F57V|uc010qaj.2,p.F57V|uc010qal.2,p.F57V|NM_001160125,p.F57V|NM_001160124,p.F57V|ENST00000542957,p.F57V|NM_001300,p.F57V	protein_coding, processed_transcript	uc010qal.2	nonsynonymous SNV	exon2	c.T169G	p.F57V	SEPCYVSASEIKFDSQEDLWTKIIL	SEPCYVSASEIKVDSQEDLWTKIIL	10.0	5.0	-	-	4238_10:3824340-3824340 A>C_SEPCYVSASEIKVDSQEDLWTKIIL
2:165953778-165953778 A>T	0.0	4238	COLON	-	-	-	-	SCN3A	ENST00000360093,p.L1408H|ENST00000409101,p.L1359H|NM_001081676,p.L1359H|uc002ucz.3,p.L1359H|NM_001081677,p.L1359H|uc002ucy.3,p.L1359H|ENST00000283254,p.L1408H|NM_006922,p.L1408H|uc002ucx.3,p.L1408H	retained_intron, protein_coding, processed_transcript	uc002ucz.3	nonsynonymous SNV	exon23	c.T4076A	p.L1359H	VKVNFDNVGAGYLALLQVATFKGWM	VKVNFDNVGAGYHALLQVATFKGWM	1.0	7.0	-	-	4238_2:165953778-165953778 A>T_VKVNFDNVGAGYHALLQVATFKGWM
1:23280441-23280441 G>T	0.0	4238	COLON	-	-	-	-	LACTBL1	ENST00000426928,p.R246S	protein_coding	ENST00000426928	nonsynonymous SNV	exon6	c.C736A	p.R246S	VLAAHTAQGDYQRWVSENVLEPLGM	VLAAHTAQGDYQSWVSENVLEPLGM	1.0	10.0	unscreened	-	4238_1:23280441-23280441 G>T_VLAAHTAQGDYQSWVSENVLEPLGM
2:71577202-71577202 A>T	0.0	4238	COLON	-	-	-	-	ZNF638	ENST00000409544,p.Y373F|uc010fec.2,p.Y479F|NM_001014972,p.Y373F|NM_014497,p.Y373F|NM_001252612,p.Y373F|uc002shz.3,p.Y373F|ENST00000377802,p.Y373F|ENST00000355812,p.Y373F|ENST00000264447,p.Y373F|uc002shy.3,p.Y373F|uc002sia.3,p.Y373F|uc002shw.3,p.Y373F|uc002shx.3,p.Y373F|uc002sib.1,p.Y373F|NM_001252613,p.Y373F	retained_intron, protein_coding, processed_transcript	uc010fec.2	nonsynonymous SNV	exon2	c.A1436T	p.Y479F	NVHVGSRGSKKNYQSQADIPIRSPF	NVHVGSRGSKKNFQSQADIPIRSPF	10.0	5.0	-	-	4238_2:71577202-71577202 A>T_NVHVGSRGSKKNFQSQADIPIRSPF
10:89692850-89692850 C>G	0.0	4238	COLON	-	-	ID=COSM5199;OCCURENCE=2(central_nervous_system),3(endometrium)	1	PTEN	NM_000314,p.L112V|ENST00000371953,p.L112V|uc001kfb.3,p.L112V	protein_coding, processed_transcript	uc001kfb.3	nonsynonymous SNV	exon5	c.C334G	p.L112V	LIKPFCEDLDQWLSEDDNHVAAIHC	LIKPFCEDLDQWVSEDDNHVAAIHC	8.0	10.0	-	-	4238_10:89692850-89692850 C>G_LIKPFCEDLDQWVSEDDNHVAAIHC
5:140306979-140306979 C>A	0.0	4238	COLON	-	-	-	-	PCDHAC1	uc003lig.1,p.H168N|ENST00000253807,p.H168N|ENST00000409700,p.H168N|uc003lih.2,p.H168N|NM_031882,p.H168N|NM_018898,p.H168N	protein_coding	uc003lih.2	nonsynonymous SNV	exon1	c.C502A	p.H168N	NGILSYSLSPSQHFRLDMGSRVDGS	NGILSYSLSPSQNFRLDMGSRVDGS	1.0	2.0	-	-	4238_5:140306979-140306979 C>A_NGILSYSLSPSQNFRLDMGSRVDGS
1:186275924-186275924 C>T	0.0	4238	COLON	-	-	-	-	PRG4	uc001gru.4,p.P358L|ENST00000367482,p.P224L|NM_005807,p.P358L|NM_001127708,p.P317L|ENST00000367486,p.P315L|uc009wym.3,p.P224L|uc001grt.4,p.P317L|ENST00000445192,p.P358L|ENST00000367484,p.P317L|ENST00000367483,p.P317L|NM_001127710,p.P224L|uc009wyl.3,p.P265L|ENST00000367485,p.P265L|NM_001127709,p.P265L	protein_coding	uc009wym.3	nonsynonymous SNV	exon4	c.C671T	p.P224L	TPKEPTPTTPKEPASTTPKEPTPTT	TPKEPTPTTPKELASTTPKEPTPTT	1.0	3.0	-	-	4238_1:186275924-186275924 C>T_TPKEPTPTTPKELASTTPKEPTPTT
X:119500396-119500396 C>T	0.0	4238	COLON	-	-	ID=COSM3424404,COSM3424405;OCCURENCE=1(large_intestine)	-	ATP1B4	ENST00000539306,p.A27V|NM_001142447,p.A27V|uc011mtx.2,p.A27V|uc004esq.3,p.A27V|uc011mty.2,p.A27V|uc004esr.3,p.A27V|ENST00000361319,p.A27V|ENST00000218008,p.A27V|NM_012069,p.A27V	protein_coding	uc011mty.2	nonsynonymous SNV	exon2	c.C80T	p.A27V	YSYRYRLDDPDEANQNYLADEEEEA	YSYRYRLDDPDEVNQNYLADEEEEA	1.0	10.0	-	-	4238_X:119500396-119500396 C>T_YSYRYRLDDPDEVNQNYLADEEEEA
6:142510577-142510577 G>T	1.0	4238	COLON	-	-	-	-	VTA1	ENST00000367630,p.R142S|NM_001286371,p.R142S|uc003qiw.3,p.R142S|ENST00000452973,p.R84S|uc011edu.2,p.R84S|NM_016485,p.R142S|NM_001286372,p.R84S|ENST00000367621,p.R84S	protein_coding, processed_transcript	uc011edu.2	nonsynonymous SNV	exon4	c.G252T	p.R84S	VFGELTDENVKHRKYARWKATYIHN	VFGELTDENVKHSKYARWKATYIHN	7.0	10.0	-	-	4238_6:142510577-142510577 G>T_VFGELTDENVKHSKYARWKATYIHN
14:24619999-24619999 C>T	0.0	4238	COLON	0.0005	-	-	-	RNF31	ENST00000559275,p.R313C|uc001wml.1,p.R313C|uc010alg.1,p.R279C|NM_017999,p.R464C|uc001wmn.1,p.R464C|ENST00000382687,p.R313C|ENST00000324103,p.R464C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010alg.1	nonsynonymous SNV	exon7	c.C835T	p.R279C	LEKGPPKPGPPRRLSAPLPSSCGDP	LEKGPPKPGPPRCLSAPLPSSCGDP	10.0	9.0	-	-	4238_14:24619999-24619999 C>T_LEKGPPKPGPPRCLSAPLPSSCGDP
1:176679181-176679181 A>C	0.0	4238	COLON	-	-	-	-	PAPPA2	uc001gkz.3,p.T1174P|NM_020318,p.T1174P|ENST00000367662,p.T1174P	protein_coding, processed_transcript	uc001gkz.3	nonsynonymous SNV	exon11	c.A3520C	p.T1174P	EGDGICEPFERKTSIVDCGIYTPKG	EGDGICEPFERKPSIVDCGIYTPKG	1.0	1.0	-	-	4238_1:176679181-176679181 A>C_EGDGICEPFERKPSIVDCGIYTPKG
2:95542411-95542411 A>T	0.0	4238	COLON	-	-	-	-	TEKT4	uc002stw.1,p.K402M|NM_001286559,p.K220M|NM_144705,p.K402M|ENST00000295201,p.K402M	retained_intron, protein_coding	uc002stw.1	nonsynonymous SNV	exon6	c.A1205T	p.K402M	LRNLEDIHMSLEKDIAAMTNSLFID	LRNLEDIHMSLEMDIAAMTNSLFID	1.0	2.0	-	-	4238_2:95542411-95542411 A>T_LRNLEDIHMSLEMDIAAMTNSLFID
9:32632939-32632939 C>A	0.0	4238	COLON	-	-	-	-	TAF1L	ENST00000242310,p.W880L|NM_153809,p.W880L|uc003zrg.1,p.W880L	protein_coding	uc003zrg.1	nonsynonymous SNV	exon1	c.G2639T	p.W880L	CADFKRTGMDSNWWVLKSDFRLPTE	CADFKRTGMDSNLWVLKSDFRLPTE	1.0	7.0	-	-	4238_9:32632939-32632939 C>A_CADFKRTGMDSNLWVLKSDFRLPTE
9:84607225-84607225 C>T	0.0	4238	COLON	-	-	-	-	SPATA31D1	uc004amn.3,p.R614W|NM_001001670,p.R614W|ENST00000344803,p.R614W	protein_coding	uc004amn.3	nonsynonymous SNV	exon4	c.C1840T	p.R614W	CGVCFHRPQNEARSLLPSEINHLEW	CGVCFHRPQNEAWSLLPSEINHLEW	1.0	9.0	-	-	4238_9:84607225-84607225 C>T_CGVCFHRPQNEAWSLLPSEINHLEW
3:27244025-27244025 G>A	0.0	4238	COLON	-	-	-	-	LRRC3B,NEK10	ENST00000357467,p.P102L|uc003cds.1,p.P102L|ENST00000429845,p.P705L	retained_intron, protein_coding, processed_transcript	uc003cds.1	nonsynonymous SNV	exon7	c.C305T	p.P102L	ILYSCPEVLKSEPYGEKADVWAVGC	ILYSCPEVLKSELYGEKADVWAVGC	1.0	7.0	-	-	4238_3:27244025-27244025 G>A_ILYSCPEVLKSELYGEKADVWAVGC
17:34641474-34641474 A>T	0.0	4238	COLON	-	-	-	-	CCL4L1,CCL4L2	ENST00000339270,p.K34M	retained_intron, protein_coding	ENST00000339270	nonsynonymous SNV	exon2	c.A101T	p.K34M	LSAPNSKPKEASKSALTPVSPGSRS	LSAPNSKPKEASMSALTPVSPGSRS	3.0	3.0	-	-	4238_17:34641474-34641474 A>T_LSAPNSKPKEASMSALTPVSPGSRS
16:75258685-75258685 G>A	0.0	4238	COLON	-	-	-	-	CTRB1	uc002fds.3,p.C238Y|ENST00000361017,p.C238Y|NM_001906,p.C238Y	protein_coding	uc002fds.3	nonsynonymous SNV	exon7	c.G713A	p.C238Y	TLVGIVSWGSDTCSTSSPGVYARVT	TLVGIVSWGSDTYSTSSPGVYARVT	1.0	4.0	-	-	4238_16:75258685-75258685 G>A_TLVGIVSWGSDTYSTSSPGVYARVT
7:129987659-129987659 G>A	0.0	4238	COLON	-	-	-	-	CPA5	ENST00000466363,p.G57R|ENST00000463587,p.G57R|uc003vpu.1,p.G57R|NM_001127442,p.G57R|NM_080385,p.G57R|uc010lme.1,p.G57R|ENST00000474905,p.G57R|uc003vps.2,p.G57R|uc003vpt.2,p.G57R|NM_001127441,p.G57R|uc010lmd.1,p.G57R|ENST00000393213,p.G57R|ENST00000355388,p.G57R|ENST00000485477,p.G57R|ENST00000461828,p.G57R|ENST00000431780,p.G57R	retained_intron, protein_coding	uc010lme.1	nonsynonymous SNV	exon3	c.G169A	p.G57R	VLAKDEKQLSLLGDLEGLKPQKVDF	VLAKDEKQLSLLRDLEGLKPQKVDF	3.0	8.0	-	-	4238_7:129987659-129987659 G>A_VLAKDEKQLSLLRDLEGLKPQKVDF
3:27244025-27244025 G>A	0.0	4238	COLON	-	-	-	-	LRRC3B,NEK10	ENST00000295720,p.P17L|uc010hfk.3,p.P17L|uc010hfj.3,p.P17L|ENST00000383770,p.P17L|ENST00000383771,p.P17L	retained_intron, protein_coding, processed_transcript	uc010hfk.3	nonsynonymous SNV	exon3	c.C50T	p.P17L	QPAEPPEVLKSEPYGEKADVWAVGC	QPAEPPEVLKSELYGEKADVWAVGC	1.0	7.0	-	-	4238_3:27244025-27244025 G>A_QPAEPPEVLKSELYGEKADVWAVGC
11:128709978-128709978 A>C	0.0	4238	COLON	-	-	-	-	KCNJ1	NM_153767,p.L54R|NM_000220,p.L73R|ENST00000440599,p.L54R|uc001qep.2,p.L54R|NM_153764,p.L54R|uc021qsb.1,p.L54R|uc001qeq.2,p.L71R|ENST00000392666,p.L54R|uc001qes.2,p.L54R|uc001qer.2,p.L54R|ENST00000392665,p.L54R|ENST00000392664,p.L73R|ENST00000324003,p.L54R|NM_153765,p.L71R|uc001qeo.2,p.L73R|ENST00000324036,p.L54R|NM_153766,p.L54R	retained_intron, protein_coding	uc021qsb.1	nonsynonymous SNV	exon1	c.T161G	p.L54R	RFIFFVDIWTTVLDLKWRYKMTIFI	RFIFFVDIWTTVRDLKWRYKMTIFI	1.0	2.0	-	-	4238_11:128709978-128709978 A>C_RFIFFVDIWTTVRDLKWRYKMTIFI
14:86089229-86089229 G>T	0.0	4238	COLON	-	-	-	-	FLRT2	ENST00000554746,p.M457I|ENST00000330753,p.M457I|uc010atd.3,p.M457I|uc001xvr.3,p.M457I|NM_013231,p.M457I|uc021rxf.1,p.M457I	retained_intron, protein_coding, processed_transcript	uc021rxf.1	nonsynonymous SNV	exon1	c.G1371T	p.M457I	FTVMAYKLTWVKMGHSLVGGIVQER	FTVMAYKLTWVKIGHSLVGGIVQER	2.0	6.0	-	-	4238_14:86089229-86089229 G>T_FTVMAYKLTWVKIGHSLVGGIVQER
1:176863816-176863816 G>A	0.0	4238	COLON	-	-	-	-	ASTN1	uc001glc.3,p.S941L|NM_001286164,p.S941L|uc001glb.1,p.S941L|uc001gld.1,p.S941L|ENST00000361833,p.S941L|ENST00000367657,p.S941L|ENST00000424564,p.S941L|NM_207108,p.S941L|NM_004319,p.S941L|ENST00000367654,p.S949L	protein_coding, processed_transcript	uc001gld.1	nonsynonymous SNV	exon17	c.C2822T	p.S941L	VRMECHSKGRCPSSCPLCHVTSSPD	VRMECHSKGRCPLSCPLCHVTSSPD	1.0	9.0	unscreened	-	4238_1:176863816-176863816 G>A_VRMECHSKGRCPLSCPLCHVTSSPD
1:158450037-158450037 T>G	0.0	4238	COLON	-	-	-	-	OR10R2	ENST00000368152,p.F124V|uc010pik.2,p.F124V|NM_001004472,p.F124V	protein_coding	uc010pik.2	nonsynonymous SNV	exon1	c.T370G	p.F124V	ISFNCCALQMFFFLGFAITNCLLLG	ISFNCCALQMFFVLGFAITNCLLLG	1.0	4.0	-	-	4238_1:158450037-158450037 T>G_ISFNCCALQMFFVLGFAITNCLLLG
5:59893632-59893632 G>A	0.0	4238	COLON	-	-	-	-	DEPDC1B	uc011cqm.2,p.A451V|ENST00000265036,p.A513V|ENST00000545085,p.A424V|uc011cqn.2,p.A424V|uc003jsh.3,p.A513V|ENST00000453022,p.A451V|NM_018369,p.A513V|NM_001145208,p.A451V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cqn.2	nonsynonymous SNV	exon11	c.C1271T	p.A424V	EKPKPKPQLLMWALKKPFQPFQRTR	EKPKPKPQLLMWVLKKPFQPFQRTR	5.0	4.0	-	-	4238_5:59893632-59893632 G>A_EKPKPKPQLLMWVLKKPFQPFQRTR
5:140222912-140222912 T>A	0.0	4238	COLON	-	-	-	-	PCDHA8	NM_018911,p.L669Q|uc003lhs.2,p.L669Q|ENST00000531613,p.L669Q|NM_031856,p.L669Q|ENST00000378123,p.L669Q|uc003lhr.1,p.L669Q	protein_coding	uc003lhs.2	nonsynonymous SNV	exon1	c.T2006A	p.L669Q	PALTATATVLVSLVESGQAPKASSR	PALTATATVLVSQVESGQAPKASSR	1.0	1.0	-	-	4238_5:140222912-140222912 T>A_PALTATATVLVSQVESGQAPKASSR
5:150924183-150924183 G>T	0.0	4238	COLON	-	-	-	-	FAT2	ENST00000261800,p.P2169T|NM_001447,p.P2169T|uc003lue.4,p.P2169T	protein_coding	uc003lue.4	nonsynonymous SNV	exon9	c.C6505A	p.P2169T	EEVLVTVRNKSNPLFQSPYYKVRVP	EEVLVTVRNKSNTLFQSPYYKVRVP	1.0	4.0	-	-	4238_5:150924183-150924183 G>T_EEVLVTVRNKSNTLFQSPYYKVRVP
12:31944968-31944968 T>C	0.0	4238	COLON	-	-	-	-	H3F3C	NM_001013699,p.T45A|ENST00000340398,p.T45A|uc001rkr.3,p.T45A	protein_coding	uc001rkr.3	nonsynonymous SNV	exon1	c.A133G	p.T45A	TCGVKPHRYRPGTVALREIRRYQKS	TCGVKPHRYRPGAVALREIRRYQKS	4.0	5.0	-	-	4238_12:31944968-31944968 T>C_TCGVKPHRYRPGAVALREIRRYQKS
6:152763328-152763328 G>A	0.0	4238	COLON	0.01	-	-	-	SYNE1	uc003qow.3,p.A592V|ENST00000448038,p.A1304V|ENST00000367255,p.A1297V|ENST00000341594,p.A1363V|ENST00000367248,p.A1287V|NM_033071,p.A1304V|uc003qot.4,p.A1304V|ENST00000423061,p.A1304V|ENST00000413186,p.A1297V|uc010kjb.1,p.A1280V|ENST00000265368,p.A1297V|uc003qox.1,p.A813V|uc003qou.4,p.A1297V|ENST00000367253,p.A1297V|NM_182961,p.A1297V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kjb.1	nonsynonymous SNV	exon29	c.C3839T	p.A1280V	ISAKKRDVQQQIAQAQQGEGGLPDR	ISAKKRDVQQQIVQAQQGEGGLPDR	4.0	10.0	-	-	4238_6:152763328-152763328 G>A_ISAKKRDVQQQIVQAQQGEGGLPDR
18:57013261-57013261 G>A	1.0	4238	COLON	-	-	-	-	LMAN1	uc002lhz.3,p.S282L|NM_005570,p.S282L|ENST00000251047,p.S282L	retained_intron, protein_coding, processed_transcript	uc002lhz.3	nonsynonymous SNV	exon8	c.C845T	p.S282L	PGKEPPTPDKEISEKEKEKYQEEFE	PGKEPPTPDKEILEKEKEKYQEEFE	7.0	9.0	-	-	4238_18:57013261-57013261 G>A_PGKEPPTPDKEILEKEKEKYQEEFE
19:50461572-50461572 G>A	0.0	4238	COLON	-	-	-	-	SIGLEC11	uc010ybh.2,p.A540V|ENST00000447370,p.A540V|NM_052884,p.A540V	protein_coding,nonsense_mediated_decay, nonsense_mediated_decay	uc010ybh.2	nonsynonymous SNV	exon8	c.C1619T	p.A540V	LRLRCKAWNVHGAQSGSVFQLLPGK	LRLRCKAWNVHGVQSGSVFQLLPGK	1.0	8.0	-	-	4238_19:50461572-50461572 G>A_LRLRCKAWNVHGVQSGSVFQLLPGK
12:51236839-51236839 T>G	0.0	4238	COLON	-	-	-	-	TMPRSS12	uc001rwx.4,p.L31R|NM_182559,p.L31R|uc001rwy.3,p.L31R|ENST00000551456,p.L31R|ENST00000398458,p.L31R	protein_coding	uc001rwy.3	nonsynonymous SNV	exon1	c.T92G	p.L31R	YSDHYSPSGRHRLGPSPEPAASSQQ	YSDHYSPSGRHRRGPSPEPAASSQQ	1.0	1.0	-	-	4238_12:51236839-51236839 T>G_YSDHYSPSGRHRRGPSPEPAASSQQ
3:195512494-195512494 G>T	0.0	4238	COLON	-	-	-	2	MUC4	uc021xjp.1,p.P1986H|ENST00000480843,p.P1986H|ENST00000477086,p.P1986H|ENST00000463781,p.P1986H|ENST00000477756,p.P1986H|ENST00000466475,p.P1986H|ENST00000479406,p.P1986H|NM_018406,p.P1986H|ENST00000470451,p.P1986H|ENST00000478156,p.P1986H|ENST00000462323,p.P1986H|ENST00000475231,p.P1986H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C5957A	p.P1986H	ASSVSTGHATPLPVTDASSVSTGHA	ASSVSTGHATPLHVTDASSVSTGHA	2.0	3.0	unscreened	-	4238_3:195512494-195512494 G>T_ASSVSTGHATPLHVTDASSVSTGHA
1:155172066-155172066 G>A	0.0	4238	COLON	-	rs35484178	-	-	THBS3	ENST00000457183,p.R242W|NM_001252607,p.R353W|uc010pfu.2,p.R242W|uc001fix.3,p.R362W|NM_001252608,p.R242W|ENST00000368378,p.R362W|ENST00000428962,p.R212W|NM_007112,p.R362W|uc009wqi.3,p.R353W	protein_coding, processed_transcript	uc010pfu.2	nonsynonymous SNV	exon7	c.C724T	p.R242W	GTQVSGVGIDYARASKQVCNDIDEC	GTQVSGVGIDYAWASKQVCNDIDEC	5.0	8.0	unscreened	-	4238_1:155172066-155172066 G>A_GTQVSGVGIDYAWASKQVCNDIDEC
5:171509466-171509466 C>T	0.0	4238	COLON	-	-	-	-	STK10	ENST00000176763,p.R618H|uc003mbo.1,p.R618H|NM_005990,p.R618H	retained_intron, protein_coding, processed_transcript	uc003mbo.1	nonsynonymous SNV	exon12	c.G1853A	p.R618H	KKFFDTELENLERQQKQQVEKMEQD	KKFFDTELENLEHQQKQQVEKMEQD	7.0	9.0	-	-	4238_5:171509466-171509466 C>T_KKFFDTELENLEHQQKQQVEKMEQD
16:29756005-29756005 C>T	0.0	4238	COLON	-	-	-	-	C16orf54	ENST00000329410,p.E90K|uc002dtp.2,p.E90K|NM_175900,p.E90K	protein_coding	uc002dtp.2	nonsynonymous SNV	exon2	c.G268A	p.E90K	GELWIEPMGTARERSEDWYGSAVPL	GELWIEPMGTARKRSEDWYGSAVPL	2.0	10.0	-	-	4238_16:29756005-29756005 C>T_GELWIEPMGTARKRSEDWYGSAVPL
2:165953778-165953778 A>T	0.0	4238	COLON	-	-	-	-	SCN3A	uc002uda.1,p.L1228H|uc002udb.1,p.L1228H	retained_intron, protein_coding, processed_transcript	uc002udb.1	nonsynonymous SNV	exon19	c.T3683A	p.L1228H	VKVNFDNVGAGYLALLQVVS	VKVNFDNVGAGYHALLQVVS	1.0	7.0	-	-	4238_2:165953778-165953778 A>T_VKVNFDNVGAGYHALLQVVS
7:111418403-111418403 T>C	0.0	4238	COLON	-	-	-	-	DOCK4	ENST00000437633,p.N1194S|NM_014705,p.N1194S|ENST00000428084,p.N1203S|ENST00000417165,p.N101S|uc011kml.2,p.N75S|uc011kmm.2,p.N101S|ENST00000494651,p.N77S|ENST00000450156,p.N77S|uc003vfw.3,p.N644S|ENST00000437129,p.N68S|uc003vfx.3,p.N1194S|uc003vfy.3,p.N1239S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kmm.2	nonsynonymous SNV	exon5	c.A302G	p.N101S	TVSLLNFYKTELNKEEMYIRYIHKL	TVSLLNFYKTELSKEEMYIRYIHKL	2.0	2.0	-	-	4238_7:111418403-111418403 T>C_TVSLLNFYKTELSKEEMYIRYIHKL
17:47874240-47874240 C>T	0.0	4238	COLON	-	-	-	2	KAT7	NM_001199155,p.R98C|uc010wmb.2,p.R98C|ENST00000259021,p.R98C|uc002ipl.2,p.R98C|NM_001199157,p.R98C|ENST00000509773,p.R98C|NM_007067,p.R98C|uc002ipm.3,p.R98C|ENST00000424009,p.R98C	retained_intron, protein_coding, processed_transcript	uc010wmb.2	nonsynonymous SNV	exon3	c.C292T	p.R98C	PVTPKKYPLRQTRSSGSETEQVVDF	PVTPKKYPLRQTCSSGSETEQVVDF	6.0	5.0	-	-	4238_17:47874240-47874240 C>T_PVTPKKYPLRQTCSSGSETEQVVDF
17:48594717-48594717 C>T	0.0	4238	COLON	0.0005	-	-	-	MYCBPAP	uc010wmr.2,p.R133C|ENST00000452039,p.R133C|ENST00000436259,p.R96C|NM_032133,p.R133C|ENST00000323776,p.R133C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wmr.2	nonsynonymous SNV	exon3	c.C397T	p.R133C	EDKRVITQKFIIRKLKPMDPRRKVC	EDKRVITQKFIICKLKPMDPRRKVC	4.0	6.0	-	-	4238_17:48594717-48594717 C>T_EDKRVITQKFIICKLKPMDPRRKVC
5:13811836-13811836 A>C	0.0	4238	COLON	-	-	ID=COSM3357856;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	DNAH5	uc003jfd.2,p.L2443V|NM_001369,p.L2443V|ENST00000265104,p.L2443V	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon44	c.T7327G	p.L2443V	SFPDLYRFCIQNLEYKMEVLEAFVI	SFPDLYRFCIQNVEYKMEVLEAFVI	3.0	5.0	-	-	4238_5:13811836-13811836 A>C_SFPDLYRFCIQNVEYKMEVLEAFVI
17:34641474-34641474 A>T	0.0	4238	COLON	-	-	-	-	CCL4L1,CCL4L2	NM_001291468,p.Q67H	retained_intron, protein_coding	NM_001291468	nonsynonymous SNV	exon3	c.A201T	p.Q67H	SSLCSQPAVVGKQVCADPSESWVQE	SSLCSQPAVVGKHVCADPSESWVQE	3.0	3.0	unscreened	-	4238_17:34641474-34641474 A>T_SSLCSQPAVVGKHVCADPSESWVQE
5:40843312-40843314 AGA>-	0.0	4238	COLON	-	-	-	-	CARD6	NM_032587,p.114_115del|uc003jmg.3,p.114_115del|ENST00000254691,p.114_115del|ENST00000381677,p.114_115del	protein_coding	uc003jmg.3	nonframeshift deletion	exon2	c.342_344del	p.114_115del	TVPPQSMGASSNSEDAFSPGIKQPE	TVPPQSMGASSNSDAFSPGIKQPEA	3.0	4.0	-	-	4238_5:40843312-40843314 AGA>-_TVPPQSMGASSNSDAFSPGIKQPEA
19:38103002-38103002 A>C	0.0	4238	COLON	-	-	-	-	ZNF540	ENST00000586134,p.K274T|NM_152606,p.K274T|ENST00000343599,p.K274T|uc002ogu.4,p.K274T|NM_001172226,p.K242T|ENST00000592533,p.K274T|uc010efq.4,p.K242T|ENST00000589117,p.K242T|ENST00000316433,p.K274T|uc002ogq.4,p.K274T|NM_001172225,p.K274T	retained_intron, protein_coding, processed_transcript	uc010efq.4	nonsynonymous SNV	exon4	c.A725C	p.K242T	QKIHTGKKPYMCKKCDKGFFSRLEL	QKIHTGKKPYMCTKCDKGFFSRLEL	1.0	2.0	-	-	4238_19:38103002-38103002 A>C_QKIHTGKKPYMCTKCDKGFFSRLEL
X:34148832-34148832 G>T	0.0	4238	COLON	-	-	-	-	FAM47A	ENST00000346193,p.P522T|uc004ddg.3,p.P522T|NM_203408,p.P522T	protein_coding	uc004ddg.3	nonsynonymous SNV	exon1	c.C1564A	p.P522T	KTRRTSSLRSEPPKTRRTSSLGPEP	KTRRTSSLRSEPTKTRRTSSLGPEP	1.0	8.0	unscreened	-	4238_X:34148832-34148832 G>T_KTRRTSSLRSEPTKTRRTSSLGPEP
11:31086577-31086577 A>C	0.0	4238	COLON	-	-	ID=COSM1269902;OCCURENCE=1(oesophagus)	-	DCDC5,DCDC1	uc009yjk.1,p.L256V|ENST00000597505,p.L808V|uc009yjl.1,p.L184V|uc001msu.2,p.L427V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009yjl.1	nonsynonymous SNV	exon9	c.T550G	p.L184V	AWTTAHQEHGRNLAEEVLQESASNL	AWTTAHQEHGRNVAEEVLQESASNL	2.0	8.0	-	-	4238_11:31086577-31086577 A>C_AWTTAHQEHGRNVAEEVLQESASNL
2:108489139-108489139 T>G	0.0	4238	COLON	-	-	-	-	RGPD4	ENST00000408999,p.F1560C|ENST00000354986,p.F1560C|uc002tdu.3,p.F747C|NM_182588,p.F1560C|uc010ywk.2,p.F1560C	protein_coding	uc010ywk.2	nonsynonymous SNV	exon20	c.T4679G	p.F1560C	RIFSSEKSKPFAFGNSSATGSLFGF	RIFSSEKSKPFACGNSSATGSLFGF	2.0	4.0	-	-	4238_2:108489139-108489139 T>G_RIFSSEKSKPFACGNSSATGSLFGF
16:11362878-11362878 C>T	0.0	4238	COLON	-	-	-	-	TNP2	uc002das.3,p.R81H|ENST00000312693,p.R81H|NM_005425,p.R81H	retained_intron, protein_coding	uc002das.3	nonsynonymous SNV	exon1	c.G242A	p.R81H	QSQSPNTSPPPKRHKKTMNSHHSPM	QSQSPNTSPPPKHHKKTMNSHHSPM	1.0	2.0	-	-	4238_16:11362878-11362878 C>T_QSQSPNTSPPPKHHKKTMNSHHSPM
2:179587850-179587850 C>G	0.0	4238	COLON	-	-	-	-	TTN	uc021vsy.2,p.R6051T|NM_133378,p.R6051T|ENST00000591111,p.R6978T|uc031rqc.1,p.R7295T|ENST00000342992,p.R6051T|ENST00000589042,p.R7295T|uc002umz.1,p.R2712T|uc031rqd.1,p.R6978T|NM_001256850,p.R6978T|NM_001267550,p.R7295T	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon73	c.G20933C	p.R6978T	KTCILEILNSTKRDAGQYSCEIENE	KTCILEILNSTKTDAGQYSCEIENE	1.0	3.0	-	-	4238_2:179587850-179587850 C>G_KTCILEILNSTKTDAGQYSCEIENE
3:21467142-21467142 A>C	0.0	4238	COLON	-	-	-	-	ZNF385D	uc003cce.3,p.L232V|ENST00000281523,p.L232V|NM_024697,p.L232V	protein_coding, processed_transcript, nonsense_mediated_decay	uc003cce.3	nonsynonymous SNV	exon6	c.T694G	p.L232V	EAHNSGTKHKTMLEARNGSGTIKAF	EAHNSGTKHKTMVEARNGSGTIKAF	1.0	7.0	-	-	4238_3:21467142-21467142 A>C_EAHNSGTKHKTMVEARNGSGTIKAF
3:130104133-130104133 T>G	0.0	4238	COLON	-	-	-	-	COL6A5	NM_001278298,p.V596G|uc010htk.2,p.V596G|ENST00000432398,p.V596G|ENST00000265379,p.V596G|ENST00000312481,p.V596G|NM_153264,p.V596G|uc010htj.2,p.V596G	protein_coding, nonsense_mediated_decay	uc010htk.2	nonsynonymous SNV	exon5	c.T1787G	p.V596G	IELQEIAGKEERVSFGQNFDALKSI	IELQEIAGKEERGSFGQNFDALKSI	1.0	3.0	-	-	4238_3:130104133-130104133 T>G_IELQEIAGKEERGSFGQNFDALKSI
4:126238116-126238116 C>T	0.0	4238	COLON	-	-	-	1	FAT4	NM_024582,p.R184C|uc003ifj.4,p.R184C|NM_001291303,p.R184C|NM_001291285,p.R184C|ENST00000394329,p.R184C	retained_intron, protein_coding	uc003ifj.4	nonsynonymous SNV	exon1	c.C550T	p.R184C	RSYRIIRGNEAGRFRLDITLNPSGE	RSYRIIRGNEAGCFRLDITLNPSGE	1.0	6.0	-	-	4238_4:126238116-126238116 C>T_RSYRIIRGNEAGCFRLDITLNPSGE
X:8565143-8565143 G>C	0.0	4238	COLON	-	-	-	-	KAL1	NM_000216,p.S158C|uc004csf.3,p.S158C|ENST00000262648,p.S158C	protein_coding, processed_transcript	uc004csf.3	nonsynonymous SNV	exon4	c.C473G	p.S158C	ACVESCEVDNECSGVKKCCSNGCGH	ACVESCEVDNECCGVKKCCSNGCGH	2.0	7.0	-	-	4238_X:8565143-8565143 G>C_ACVESCEVDNECCGVKKCCSNGCGH
17:34641474-34641474 A>T	0.0	4238	COLON	-	-	-	-	CCL4L1,CCL4L2	NM_207007,p.Q72H|uc002hlw.3,p.Q72H|ENST00000394465,p.Q72H	retained_intron, protein_coding	uc002hlw.3	nonsynonymous SNV	exon3	c.A216T	p.Q72H	QPAVVFQTKRGKQVCADPSESWVQE	QPAVVFQTKRGKHVCADPSESWVQE	3.0	3.0	-	-	4238_17:34641474-34641474 A>T_QPAVVFQTKRGKHVCADPSESWVQE
7:11452339-11452339 T>C	0.0	4238	COLON	-	-	-	-	THSD7A	uc021zzo.1,p.E1209G|ENST00000423059,p.E1209G|NM_015204,p.E1209G	retained_intron, protein_coding, processed_transcript	uc021zzo.1	nonsynonymous SNV	exon18	c.A3626G	p.E1209G	PADEGRSCPNAVEKEPCNLNKNCYH	PADEGRSCPNAVGKEPCNLNKNCYH	2.0	7.0	-	-	4238_7:11452339-11452339 T>C_PADEGRSCPNAVGKEPCNLNKNCYH
9:140918181-140918181 A>G	0.0	4238	COLON	-	rs11137342	ID=COSM3750165;OCCURENCE=6(large_intestine)	-	CACNA1B	uc004cog.3,p.T996A|NM_000718,p.T996A|ENST00000277551,p.T996A|NM_001243812,p.T996A|uc031tfz.1,p.T996A|uc011mfd.2,p.T597A|uc031tfy.1,p.T996A|ENST00000371372,p.T996A|ENST00000277549,p.T188A|ENST00000371357,p.T997A|ENST00000371355,p.T997A|uc004coi.3,p.T206A|uc022bqn.1,p.T996A|ENST00000371363,p.T996A	protein_coding	uc031tfz.1	nonsynonymous SNV	exon19	c.A2986G	p.T996A	KAQPAHEAVEKETTEKEATEKEAEI	KAQPAHEAVEKEATEKEATEKEAEI	1.0	3.0	unscreened	-	4238_9:140918181-140918181 A>G_KAQPAHEAVEKEATEKEATEKEAEI
14:29261308-29261308 A>C	0.0	4238	COLON	-	rs34203558	-	-	LINC01551	ENST00000399387,p.K115N|uc001wqf.3,p.K115N	protein_coding, processed_transcript	uc001wqf.3	nonsynonymous SNV	exon3	c.A345C	p.K115N	HDVSPEKVTSALKKTNKQTTTINNF	HDVSPEKVTSALNKTNKQTTTINNF	5.0	4.0	unscreened	-	4238_14:29261308-29261308 A>C_HDVSPEKVTSALNKTNKQTTTINNF
8:113960032-113960032 C>T	0.0	4238	COLON	-	-	-	2	CSMD3	ENST00000297405,p.G499R|NM_198124,p.G459R|NM_052900,p.G395R|NM_198123,p.G499R|ENST00000343508,p.G459R|ENST00000352409,p.G499R|uc003ynu.3,p.G499R|uc003ynt.3,p.G459R|ENST00000455883,p.G395R|uc011lhx.2,p.G395R	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon8	c.G1183A	p.G395R	PDPGEPENGKRIGSDFSLGSTVQFS	PDPGEPENGKRIRSDFSLGSTVQFS	1.0	6.0	-	-	4238_8:113960032-113960032 C>T_PDPGEPENGKRIRSDFSLGSTVQFS
7:21640506-21640506 A>C	0.0	4238	COLON	-	-	-	-	DNAH11	uc031swp.1,p.E1071D|NM_001277115,p.E1071D|ENST00000409508,p.E1071D|ENST00000328843,p.E1071D	retained_intron, protein_coding, processed_transcript	uc031swp.1	nonsynonymous SNV	exon16	c.A3213C	p.E1071D	VSSDEMDAHANEEIPEQPPTLEQFK	VSSDEMDAHANEDIPEQPPTLEQFK	2.0	6.0	-	-	4238_7:21640506-21640506 A>C_VSSDEMDAHANEDIPEQPPTLEQFK
22:45795077-45795077 C>G	0.0	4238	COLON	-	-	-	-	SMC1B	NM_148674,p.E337D|NM_001291501,p.E337D|uc003bge.1,p.E120D|uc003bgd.3,p.E337D|uc003bgc.3,p.E337D|ENST00000357450,p.E337D|ENST00000404354,p.E337D	protein_coding	uc003bge.1	nonsynonymous SNV	exon4	c.G360C	p.E120D	QCSKQEDDIKALETELADLDAAWRS	QCSKQEDDIKALDTELADLDAAWRS	1.0	7.0	-	-	4238_22:45795077-45795077 C>G_QCSKQEDDIKALDTELADLDAAWRS
2:138434117-138434117 G>C	0.0	4238	COLON	-	-	-	-	THSD7B	ENST00000409968,p.S1588T|ENST00000272643,p.S1591T|ENST00000413152,p.S1560T	retained_intron, protein_coding, processed_transcript	ENST00000413152	nonsynonymous SNV	exon28	c.G4679C	p.S1560T	SYLVCKKPKPHQSTPPQQKPLTLAY	SYLVCKKPKPHQTTPPQQKPLTLAY	1.0	4.0	-	-	4238_2:138434117-138434117 G>C_SYLVCKKPKPHQTTPPQQKPLTLAY
X:34148871-34148871 G>T	0.0	4238	COLON	-	-	-	-	FAM47A	ENST00000346193,p.P509T|NM_203408,p.P509T|uc004ddg.3,p.P509T	protein_coding	uc004ddg.3	nonsynonymous SNV	exon1	c.C1525A	p.P509T	KTRRTSSLRSEPPKTRRTSSLRSEP	KTRRTSSLRSEPTKTRRTSSLRSEP	1.0	5.0	unscreened	-	4238_X:34148871-34148871 G>T_KTRRTSSLRSEPTKTRRTSSLRSEP
12:25055897-25055897 G>A	0.0	4238	COLON	-	-	-	-	BCAT1	ENST00000599478,p.R125H	protein_coding, processed_transcript	ENST00000599478	nonsynonymous SNV	exon1	c.G374A	p.R125H	KRPGSRYLAGKGRSGAKRAGHGEAA	KRPGSRYLAGKGHSGAKRAGHGEAA	2.0	5.0	unscreened	-	4238_12:25055897-25055897 G>A_KRPGSRYLAGKGHSGAKRAGHGEAA
2:24494746-24494746 G>C	1.0	4238	COLON	-	-	-	-	ITSN2	NM_006277,p.Q716E|ENST00000355123,p.Q716E|uc002rfg.3,p.Q716E|ENST00000406921,p.Q716E|uc002rff.2,p.Q689E|ENST00000361999,p.Q689E|NM_147152,p.Q716E|uc002rfe.2,p.Q716E|NM_019595,p.Q689E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002rfg.3	nonsynonymous SNV	exon19	c.C2146G	p.Q716E	WKENLRKEEEEKQKRLQEEKTQEKI	WKENLRKEEEEKEKRLQEEKTQEKI	7.0	4.0	unscreened	-	4238_2:24494746-24494746 G>C_WKENLRKEEEEKEKRLQEEKTQEKI
1:232942770-232942770 A>C	0.0	4238	COLON	-	-	-	-	MAP10	uc001hvh.2,p.R667S|NM_019090,p.R667S|ENST00000418460,p.R667S	protein_coding	uc001hvh.2	nonsynonymous SNV	exon1	c.A2001C	p.R667S	DMLVVHEKRELYRKRQSQMLGTKFR	DMLVVHEKRELYSKRQSQMLGTKFR	3.0	4.0	-	-	4238_1:232942770-232942770 A>C_DMLVVHEKRELYSKRQSQMLGTKFR
2:186660568-186660568 C>A	0.0	4238	COLON	-	-	-	-	FSIP2	NM_173651,p.A2991D|uc002upl.3,p.A2991D|ENST00000343098,p.A2991D|ENST00000424728,p.A2902D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon16	c.C8972A	p.A2991D	NCESRFYNHFKGASTRAEDTKAQIN	NCESRFYNHFKGDSTRAEDTKAQIN	1.0	6.0	-	-	4238_2:186660568-186660568 C>A_NCESRFYNHFKGDSTRAEDTKAQIN
19:41081315-41081317 AGG>-	0.0	4238	COLON	-	-	-	-	SPTBN4	ENST00000352632,p.E2513fs|NM_020971,p.E2513fs|uc010egx.3,p.E1256fs|ENST00000598249,p.E2513fs|uc031rks.1,p.E69fs|uc002ony.3,p.E2513fs|uc002onz.3,p.E2513fs|ENST00000392025,p.E1256fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rks.1	frameshift deletion	exon2	c.205_205del	p.E69fs	DGSEFLLQAKDEEEMNGWLEAVASS	DGSEFLLQAKDERR	1.0	6.0	unscreened	-	4238_19:41081315-41081317 AGG>-_DGSEFLLQAKDERR
6:34386174-34386174 C>T	1.0	4240	BREAST	-	-	-	-	RPS10,RPS10-NUDT3	NM_001204091,p.G143E|uc021yyu.1,p.G143E|NM_001203245,p.G143E|NM_001014,p.G143E|uc003ojn.3,p.G143E|ENST00000326199,p.G143E|uc003ojm.3,p.G143E	protein_coding, processed_transcript	uc021yyu.1	nonsynonymous SNV	exon5	c.G428A	p.G143E	AVPPGADKKAEAGAGSATEFQFRGG	AVPPGADKKAEAEAGSATEFQFRGG	10.0	6.0	CD8	-	4240_6:34386174-34386174 C>T_AVPPGADKKAEAEAGSATEFQFRGG
6:34386174-34386174 C>T	1.0	4240	BREAST	-	-	-	-	RPS10,RPS10-NUDT3	NM_001202470,p.G143E|ENST00000605528,p.G143E|uc021yyt.1,p.G143E	protein_coding, processed_transcript	uc021yyt.1	nonsynonymous SNV	exon5	c.G428A	p.G143E	AVPPGADKKAEAGAGSATEFQFVLL	AVPPGADKKAEAEAGSATEFQFVLL	10.0	6.0	CD8	-	4240_6:34386174-34386174 C>T_AVPPGADKKAEAEAGSATEFQFVLL
17:33331306-33331306 C>G	1.0	4240	BREAST	-	-	-	-	LIG3	uc002hik.2,p.I937M|NM_013975,p.I937M|ENST00000378526,p.I937M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002hik.2	nonsynonymous SNV	exon20	c.C2811G	p.I937M	DETLCQTKVLLDIFTGVRLYLPPST	DETLCQTKVLLDMFTGVRLYLPPST	9.0	8.0	-	-	4240_17:33331306-33331306 C>G_DETLCQTKVLLDMFTGVRLYLPPST
12:57499285-57499285 G>A	1.0	4240	BREAST	-	-	-	1	STAT6	ENST00000454075,p.R260W|NM_001178080,p.R150W|ENST00000300134,p.R260W|ENST00000538913,p.R150W|uc010srb.2,p.R150W|NM_003153,p.R260W|uc010src.2,p.R150W|ENST00000556155,p.R260W|uc009zpg.3,p.R309W|NM_001178079,p.R260W|uc009zpe.3,p.R260W|uc010srd.2,p.R150W|ENST00000543873,p.R260W|NM_001178081,p.R150W|ENST00000537215,p.R150W|uc009zpf.3,p.R260W|uc001sna.3,p.R260W|NM_001178078,p.R260W	retained_intron, protein_coding, nonsense_mediated_decay	uc010srd.2	nonsynonymous SNV	exon6	c.C448T	p.R150W	ELEPKTRASLTGRLDEVLRTLVTSC	ELEPKTRASLTGWLDEVLRTLVTSC	10.0	3.0	-	-	4240_12:57499285-57499285 G>A_ELEPKTRASLTGWLDEVLRTLVTSC
12:100613809-100613809 A>T	1.0	4240	BREAST	-	-	-	-	ACTR6	uc001the.2,p.N234Y|uc001thb.2,p.N316Y|ENST00000188312,p.N316Y|NM_022496,p.N316Y|uc001thc.2,p.N208Y|ENST00000546902,p.N234Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001the.2	nonsynonymous SNV	exon10	c.A700T	p.N234Y	NLPEEMQPHFFKNIVLTGGNSLFPG	NLPEEMQPHFFKYIVLTGGNSLFPG	8.0	2.0	unscreened	-	4240_12:100613809-100613809 A>T_NLPEEMQPHFFKYIVLTGGNSLFPG
3:32586554-32586554 G>A	1.0	4240	BREAST	-	-	-	-	DYNC1LI1	ENST00000413350,p.H77Y|ENST00000273130,p.H128Y|uc003cfb.4,p.H128Y|NM_016141,p.H128Y|ENST00000424991,p.H169Y	retained_intron, protein_coding	uc003cfb.4	nonsynonymous SNV	exon4	c.C382T	p.H128Y	RCNVWILDGDLYHKGLLKFSLDAVS	RCNVWILDGDLYYKGLLKFSLDAVS	8.0	10.0	-	-	4240_3:32586554-32586554 G>A_RCNVWILDGDLYYKGLLKFSLDAVS
8:144993955-144993955 C>G	1.0	4240	BREAST	-	-	-	-	PLEC	ENST00000345136,p.G3345A|uc003zad.2,p.G3345A|ENST00000436759,p.G3372A|ENST00000322810,p.G3482A|ENST00000356346,p.G3331A|NM_201382,p.G3345A|uc003zaj.2,p.G3372A|uc003zab.1,p.G3345A|uc003zae.1,p.G3313A|ENST00000527096,p.G3368A|NM_201380,p.G3482A|ENST00000354589,p.G3345A|NM_201384,p.G3345A|uc003zaf.1,p.G3482A|uc003zag.1,p.G3323A|NM_201379,p.G3323A|uc003zah.2,p.G3331A|ENST00000357649,p.G3349A|ENST00000354958,p.G3323A|ENST00000398774,p.G3313A|NM_201378,p.G3331A|NM_201381,p.G3313A|NM_000445,p.G3372A|NM_201383,p.G3349A|uc003zac.1,p.G3349A	retained_intron, protein_coding	uc003zaj.2	nonsynonymous SNV	exon33	c.G10115C	p.G3372A	DGKTTVKDLSELGSVRTLLQGSGCL	DGKTTVKDLSELASVRTLLQGSGCL	9.0	2.0	-	-	4240_8:144993955-144993955 C>G_DGKTTVKDLSELASVRTLLQGSGCL
1:54252843-54252843 C>G	1.0	4240	BREAST	-	-	-	-	NDC1	uc001cvt.3,p.L473F|uc010onv.2,p.L261F|uc001cvs.3,p.L596F|NM_001168551,p.L556F|ENST00000234725,p.L481F|uc010onu.2,p.L556F|ENST00000371429,p.L596F|NM_018087,p.L596F|ENST00000537333,p.L261F	protein_coding, processed_transcript	uc010onv.2	nonsynonymous SNV	exon14	c.G783C	p.L261F	VQTTLPAILNTLLTLQEAVDKYFKL	VQTTLPAILNTLFTLQEAVDKYFKL	6.0	9.0	-	-	4240_1:54252843-54252843 C>G_VQTTLPAILNTLFTLQEAVDKYFKL
19:10444159-10444159 G>A	1.0	4240	BREAST	-	-	-	-	RAVER1	ENST00000293677,p.H26Y|uc002moa.3,p.H26Y|NM_133452,p.H26Y	retained_intron, protein_coding, nonsense_mediated_decay	uc002moa.3	nonsynonymous SNV	exon1	c.C76T	p.H26Y	GFPKMAADVSVTHRPPLSPKSGAEV	GFPKMAADVSVTYRPPLSPKSGAEV	7.0	10.0	-	-	4240_19:10444159-10444159 G>A_GFPKMAADVSVTYRPPLSPKSGAEV
1:154961242-154961242 G>T	1.0	4240	BREAST	-	-	-	-	FLAD1	uc001fge.2,p.R248L|uc001fgc.3,p.R246L|NM_201398,p.R248L|ENST00000368432,p.R248L|uc001fgh.1,p.R78L|ENST00000368431,p.R246L|ENST00000315144,p.R248L|uc021paj.1,p.R246L|ENST00000295530,p.R78L|ENST00000292180,p.R345L|uc001fgg.2,p.R248L|NM_001184891,p.R248L|ENST00000405236,p.R246L|NM_025207,p.R345L|uc001fgf.2,p.R345L|NM_001184892,p.R246L|uc001fgd.2,p.R345L|ENST00000368433,p.R345L	protein_coding, processed_transcript	uc021paj.1	nonsynonymous SNV	exon1	c.G737T	p.R246L	GPLEECLAYLTARLPQGSLVPYMPN	GPLEECLAYLTALLPQGSLVPYMPN	10.0	9.0	-	-	4240_1:154961242-154961242 G>T_GPLEECLAYLTALLPQGSLVPYMPN
19:36124842-36124842 G>A	1.0	4240	BREAST	-	-	-	-	RBM42	uc002oaq.3,p.R284H|uc002oan.3,p.R313H|ENST00000262633,p.R313H|ENST00000589871,p.R291H|NM_024321,p.R313H|ENST00000588161,p.R283H|ENST00000589559,p.R284H|ENST00000360475,p.R284H|uc002oap.3,p.R283H|ENST00000592202,p.R259H	retained_intron, protein_coding	uc002oaq.3	nonsynonymous SNV	exon6	c.G851A	p.R284H	PLEVVRGLLPPLRIPELLSLRPRPR	PLEVVRGLLPPLHIPELLSLRPRPR	10.0	2.0	-	-	4240_19:36124842-36124842 G>A_PLEVVRGLLPPLHIPELLSLRPRPR
5:140961929-140961929 G>A	1.0	4240	BREAST	-	-	-	-	DIAPH1	ENST00000398562,p.R203W|NM_005219,p.R212W|ENST00000521457,p.R203W|ENST00000520569,p.R158W|uc003llc.4,p.R203W|NM_001079812,p.R203W|uc021yeq.1,p.R203W|ENST00000389057,p.R203W|ENST00000253811,p.R212W|uc003llb.4,p.R212W|ENST00000389054,p.R212W|ENST00000398566,p.R203W|ENST00000398557,p.R212W|ENST00000518047,p.R203W|uc021yep.1,p.R212W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021yeq.1	nonsynonymous SNV	exon6	c.C607T	p.R203W	DEKEETAGSYDSRNKHEIIRCLKAF	DEKEETAGSYDSWNKHEIIRCLKAF	9.0	7.0	-	-	4240_5:140961929-140961929 G>A_DEKEETAGSYDSWNKHEIIRCLKAF
13:41706446-41706446 C>G	0.0	4240	BREAST	-	-	-	-	KBTBD6	uc001uxu.1,p.E68Q|ENST00000379485,p.E68Q|NM_152903,p.E68Q	protein_coding	uc001uxu.1	nonsynonymous SNV	exon1	c.G202C	p.E68Q	FYDARLLCDVTIEVVTPGSGPGTGR	FYDARLLCDVTIQVVTPGSGPGTGR	6.0	10.0	-	-	4240_13:41706446-41706446 C>G_FYDARLLCDVTIQVVTPGSGPGTGR
1:153737460-153737460 C>G	1.0	4240	BREAST	-	-	-	-	INTS3	ENST00000456435,p.L465V|ENST00000435409,p.L671V|uc001fcv.3,p.L465V|uc001fct.3,p.L671V|uc010pec.2,p.L184V|uc010peb.2,p.L465V|ENST00000318967,p.L671V|uc009wom.3,p.L671V|uc001fcu.3,p.L363V|NM_023015,p.L671V|ENST00000512605,p.L465V|uc001fcw.3,p.L184V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010pec.2	nonsynonymous SNV	exon8	c.C550G	p.L184V	LCQMQEDNSSFSLLLDLLSELYQKQ	LCQMQEDNSSFSVLLDLLSELYQKQ	9.0	8.0	-	-	4240_1:153737460-153737460 C>G_LCQMQEDNSSFSVLLDLLSELYQKQ
10:88730295-88730295 G>A	1.0	4240	BREAST	-	-	-	-	ADIRF	uc001kec.1,p.S29L	protein_coding	uc001kec.1	nonsynonymous SNV	exon2	c.C86T	p.S29L	RRPNFFPIPEKVSEAWLAVLSMVSW	RRPNFFPIPEKVLEAWLAVLSMVSW	9.0	7.0	unscreened	-	4240_10:88730295-88730295 G>A_RRPNFFPIPEKVLEAWLAVLSMVSW
3:182602652-182602652 G>C	1.0	4240	BREAST	-	-	-	-	ATP11B	uc010hxf.1,p.R36T|NM_014616,p.R874T|ENST00000323116,p.R874T|uc011bqm.1,p.R178T|uc003flc.3,p.R458T|uc003flb.3,p.R874T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bqm.1	nonsynonymous SNV	exon5	c.G533C	p.R178T	KLLFVHGHFYYIRIATLVQYFFYKN	KLLFVHGHFYYITIATLVQYFFYKN	7.0	6.0	unscreened	-	4240_3:182602652-182602652 G>C_KLLFVHGHFYYITIATLVQYFFYKN
3:191075789-191075789 G>C	1.0	4240	BREAST	-	-	-	-	CCDC50	NM_174908,p.E39Q|NM_178335,p.E39Q|uc003fsv.3,p.E39Q|ENST00000392456,p.E39Q|ENST00000392455,p.E39Q|uc003fsw.3,p.E39Q	retained_intron, protein_coding	uc003fsw.3	nonsynonymous SNV	exon3	c.G115C	p.E39Q	HTLAHSLQEQEIEHHLASNVQRNRL	HTLAHSLQEQEIQHHLASNVQRNRL	8.0	10.0	-	-	4240_3:191075789-191075789 G>C_HTLAHSLQEQEIQHHLASNVQRNRL
5:137762912-137762912 G>C	1.0	4240	BREAST	-	-	-	-	KDM3B	uc010jew.1,p.E1169Q|ENST00000542866,p.E545Q|uc003lcy.1,p.E1513Q|ENST00000394866,p.E1169Q|ENST00000314358,p.E1513Q|uc011cys.1,p.E545Q|NM_016604,p.E1513Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cys.1	nonsynonymous SNV	exon12	c.G1633C	p.E545Q	RFEDLMENLPLPEYTKRDGRLNLAS	RFEDLMENLPLPQYTKRDGRLNLAS	9.0	9.0	-	-	4240_5:137762912-137762912 G>C_RFEDLMENLPLPQYTKRDGRLNLAS
11:65481125-65481125 C>T	1.0	4240	BREAST	-	-	-	-	KAT5	NM_006388,p.S168L|uc001ofk.3,p.S201L|ENST00000352980,p.S116L|ENST00000341318,p.S201L|uc010roo.2,p.S149L|NM_182709,p.S116L|NM_182710,p.S201L|ENST00000531880,p.S162L|uc001ofj.3,p.S116L|ENST00000530446,p.S149L|ENST00000377046,p.S168L|uc001ofi.3,p.S168L|NM_001206833,p.S149L|ENST00000528198,p.S110L	retained_intron, protein_coding, processed_transcript	uc010roo.2	nonsynonymous SNV	exon4	c.C446T	p.S149L	PATPVPSETAPASVFPQNGAARRAV	PATPVPSETAPALVFPQNGAARRAV	10.0	8.0	-	-	4240_11:65481125-65481125 C>T_PATPVPSETAPALVFPQNGAARRAV
18:71825675-71825675 G>A	1.0	4240	BREAST	-	-	-	-	TIMM21	ENST00000169551,p.R236K|NM_014177,p.R236K|uc010dqr.1,p.R236K	retained_intron, protein_coding	uc010dqr.1	nonsynonymous SNV	exon6	c.G707A	p.R236K	RYIFVEIESYPRRTIIIEDNRSQDD	RYIFVEIESYPRKTIIIEDNRSQDD	8.0	9.0	-	-	4240_18:71825675-71825675 G>A_RYIFVEIESYPRKTIIIEDNRSQDD
16:2747924-2747924 G>A	1.0	4240	BREAST	-	-	-	-	KCTD5	ENST00000301738,p.E127K|NM_018992,p.E127K|uc002crd.3,p.E127K	protein_coding, processed_transcript	uc002crd.3	nonsynonymous SNV	exon3	c.G379A	p.E127K	KDLAEEGVLEEAEFYNITSLIKLVK	KDLAEEGVLEEAKFYNITSLIKLVK	8.0	10.0	-	-	4240_16:2747924-2747924 G>A_KDLAEEGVLEEAKFYNITSLIKLVK
12:122983380-122983380 C>A	1.0	4240	BREAST	-	-	-	2	ZCCHC8	ENST00000336229,p.R79L|uc001ucn.3,p.R79L|NM_017612,p.R79L	retained_intron, protein_coding	uc001ucn.3	nonsynonymous SNV	exon2	c.G236T	p.R79L	NQELKRKLNILTRPSGILVNDTKLD	NQELKRKLNILTLPSGILVNDTKLD	9.0	8.0	-	-	4240_12:122983380-122983380 C>A_NQELKRKLNILTLPSGILVNDTKLD
16:30370569-30370569 C>G	0.0	4240	BREAST	-	-	-	-	TBC1D10B	uc002dxu.2,p.E522D|NM_015527,p.E522D|ENST00000409939,p.E522D	retained_intron, protein_coding	uc002dxu.2	nonsynonymous SNV	exon7	c.G1566C	p.E522D	RRQRIDPVLYMTEWFMCIFARTLPW	RRQRIDPVLYMTDWFMCIFARTLPW	9.0	2.0	unscreened	-	4240_16:30370569-30370569 C>G_RRQRIDPVLYMTDWFMCIFARTLPW
14:93673673-93673673 G>C	1.0	4240	BREAST	-	-	-	-	UBR7	ENST00000013070,p.E13Q|ENST00000556871,p.E13Q|uc001ybm.4,p.E13Q|NM_175748,p.E13Q|ENST00000553674,p.E13Q|ENST00000554232,p.E13Q	protein_coding, nonsense_mediated_decay	uc001ybm.4	nonsynonymous SNV	exon1	c.G37C	p.E13Q	MAGAEGAAGRQSELEPVVSLVDVLE	MAGAEGAAGRQSQLEPVVSLVDVLE	9.0	8.0	-	-	4240_14:93673673-93673673 G>C_MAGAEGAAGRQSQLEPVVSLVDVLE
8:144406776-144406776 G>A	1.0	4240	BREAST	-	-	-	-	TOP1MT	ENST00000523676,p.P134L|uc010mfd.2,p.P27L|uc011lke.3,p.P134L|ENST00000521193,p.P134L|ENST00000522041,p.P134L|NM_001258447,p.P134L|ENST00000519139,p.P134L|ENST00000519148,p.P134L|ENST00000329245,p.P232L|uc011lkf.2,p.P27L|NM_001258446,p.P134L|ENST00000519591,p.P134L|NM_052963,p.P232L|uc003yxz.4,p.P232L|uc011lkd.3,p.P134L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lkf.2	nonsynonymous SNV	exon2	c.C80T	p.P27L	INCSRDSKIPEPPAGHQWKEVRSDN	INCSRDSKIPEPLAGHQWKEVRSDN	10.0	9.0	-	-	4240_8:144406776-144406776 G>A_INCSRDSKIPEPLAGHQWKEVRSDN
3:11880775-11880775 C>A	1.0	4240	BREAST	-	-	-	-	TAMM41	ENST00000455809,p.G111V|ENST00000273037,p.G111V|ENST00000457498,p.G111V|ENST00000444133,p.G111V|NM_138807,p.G111V|ENST00000411947,p.G111V|uc003bwh.3,p.G111V|NM_001284401,p.G111V|uc011auo.1,p.G111V	retained_intron, protein_coding, nonsense_mediated_decay	uc011auo.1	nonsynonymous SNV	exon3	c.G332T	p.G111V	SLIMCNGRLIKYGVISTNVLIEDLL	SLIMCNGRLIKYVVISTNVLIEDLL	8.0	10.0	-	-	4240_3:11880775-11880775 C>A_SLIMCNGRLIKYVVISTNVLIEDLL
7:86824112-86824112 C>G	1.0	4240	BREAST	-	-	-	-	DMTF1	NM_001142327,p.T714S|uc011khb.2,p.T626S|NM_001142326,p.T626S|uc003uii.3,p.T448S|ENST00000414194,p.T448S|ENST00000413276,p.T644S|NM_021145,p.T714S|uc031sye.1,p.T94S|uc003uih.3,p.T714S|uc003uin.3,p.T448S|uc003uij.3,p.T448S|ENST00000432937,p.T626S|ENST00000394703,p.T714S|uc003uil.3,p.T714S|ENST00000331242,p.T714S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031sye.1	nonsynonymous SNV	exon3	c.C281G	p.T94S	PHGFIQASDVIDTESVLPLTTLTDP	PHGFIQASDVIDSESVLPLTTLTDP	10.0	6.0	unscreened	-	4240_7:86824112-86824112 C>G_PHGFIQASDVIDSESVLPLTTLTDP
7:97482421-97482421 G>A	1.0	4240	BREAST	-	-	-	-	ASNS	ENST00000444334,p.S455L|NM_133436,p.S476L|uc003uou.4,p.S476L|uc003uox.4,p.S393L|uc003uot.4,p.S476L|ENST00000455086,p.S393L|uc011kin.2,p.S393L|NM_001673,p.S476L|uc011kio.2,p.S455L|ENST00000437628,p.S393L|ENST00000422745,p.S455L|ENST00000394309,p.S476L|NM_001178077,p.S393L|ENST00000394308,p.S476L|ENST00000175506,p.S476L|NM_183356,p.S476L|NM_001178075,p.S455L|NM_001178076,p.S393L|uc003uov.4,p.S476L	retained_intron, protein_coding, nonsense_mediated_decay	uc011kio.2	nonsynonymous SNV	exon12	c.C1364T	p.S455L	WRPKEAFSDGITSVKNSWFKILQEY	WRPKEAFSDGITLVKNSWFKILQEY	8.0	9.0	-	-	4240_7:97482421-97482421 G>A_WRPKEAFSDGITLVKNSWFKILQEY
3:141944210-141944210 C>T	1.0	4240	BREAST	-	-	-	-	GK5	ENST00000492097,p.V30M|ENST00000487672,p.V30M|ENST00000544571,p.V30M|NM_001039547,p.V30M|uc003euq.2,p.V30M|ENST00000480757,p.V30M|ENST00000392993,p.V30M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003euq.2	nonsynonymous SNV	exon1	c.G88A	p.V30M	PGFVLGLDVGSSVIRCHVYDRAARV	PGFVLGLDVGSSMIRCHVYDRAARV	9.0	9.0	-	-	4240_3:141944210-141944210 C>T_PGFVLGLDVGSSMIRCHVYDRAARV
19:41223289-41223289 G>C	1.0	4240	BREAST	-	-	-	-	ITPKC	ENST00000263370,p.E83D|NM_025194,p.E83D|uc002oot.3,p.E83D	protein_coding, nonsense_mediated_decay	uc002oot.3	nonsynonymous SNV	exon1	c.G249C	p.E83D	PERAGLGPAPGTESPQAEFWTDGQT	PERAGLGPAPGTDSPQAEFWTDGQT	8.0	8.0	-	-	4240_19:41223289-41223289 G>C_PERAGLGPAPGTDSPQAEFWTDGQT
1:40562871-40562871 G>A	1.0	4240	BREAST	-	-	-	-	PPT1	uc001cfb.2,p.L14F|ENST00000372779,p.L14F|NM_001142604,p.L14F|ENST00000449045,p.L14F|ENST00000529905,p.L14F|NM_000310,p.L14F|ENST00000527107,p.L14F|ENST00000433473,p.L14F|ENST00000527311,p.L14F|ENST00000530704,p.L14F|uc010ojg.1,p.L14F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ojg.1	nonsynonymous SNV	exon1	c.C40T	p.L14F	ASPGCLWLLAVALLPWTCASRALQH	ASPGCLWLLAVAFLPWTCASRALQH	10.0	6.0	unscreened	-	4240_1:40562871-40562871 G>A_ASPGCLWLLAVAFLPWTCASRALQH
17:27229914-27229914 G>A	0.0	4240	BREAST	-	-	-	-	DHRS13	uc010wba.2,p.L17F|NM_144683,p.L17F|ENST00000378895,p.L17F|ENST00000426464,p.L17F|uc002hde.4,p.L17F	retained_intron, protein_coding, processed_transcript	uc010wba.2	nonsynonymous SNV	exon1	c.C49T	p.L17F	LLGAGLLLGAYVLVYYNLVKAPPCG	LLGAGLLLGAYVFVYYNLVKAPPCG	9.0	2.0	-	-	4240_17:27229914-27229914 G>A_LLGAGLLLGAYVFVYYNLVKAPPCG
X:122748028-122748028 G>C	1.0	4240	BREAST	-	-	-	-	THOC2	ENST00000416618,p.H31D|ENST00000355725,p.H1442D|ENST00000491737,p.H1327D|ENST00000245838,p.H1442D|uc004etw.1,p.H263D|uc004etu.3,p.H1442D|NM_001081550,p.H1442D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004etw.1	nonsynonymous SNV	exon6	c.C787G	p.H263D	ELKESSAKLYINHTPPPLSKSKERE	ELKESSAKLYINDTPPPLSKSKERE	10.0	7.0	-	-	4240_X:122748028-122748028 G>C_ELKESSAKLYINDTPPPLSKSKERE
2:233659520-233659520 C>G	1.0	4240	BREAST	-	-	-	-	GIGYF2	uc002vti.4,p.L449V|NM_001103146,p.L449V|ENST00000452341,p.L280V|uc010zml.1,p.L280V|NM_001103147,p.L470V|ENST00000440945,p.L443V|ENST00000409547,p.L449V|ENST00000373566,p.L471V|uc002vtg.2,p.L443V|NM_015575,p.L449V|ENST00000409480,p.L471V|ENST00000373563,p.L449V|uc002vtj.4,p.L470V|uc002vth.4,p.L443V|NM_001103148,p.L443V|ENST00000409451,p.L470V|ENST00000423659,p.L392V|uc002vtk.4,p.L449V|uc010zmj.1,p.L449V|ENST00000409196,p.L443V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zml.1	nonsynonymous SNV	exon7	c.C838G	p.L280V	LSQIPSDTASPLLILPPPVPNPSPT	LSQIPSDTASPLVILPPPVPNPSPT	8.0	1.0	-	-	4240_2:233659520-233659520 C>G_LSQIPSDTASPLVILPPPVPNPSPT
12:64202769-64202769 G>T	1.0	4240	BREAST	-	-	-	-	TMEM5	uc001srq.2,p.R410I|NM_014254,p.R410I|uc001srs.2,p.R150I|ENST00000537373,p.R150I|NM_001278237,p.R150I|ENST00000261234,p.R410I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc001srs.2	nonsynonymous SNV	exon6	c.G449T	p.R150I	KEKTIILQEKIERRKMLLQWYQHFK	KEKTIILQEKIEIRKMLLQWYQHFK	7.0	3.0	unscreened	-	4240_12:64202769-64202769 G>T_KEKTIILQEKIEIRKMLLQWYQHFK
2:9728454-9728454 G>A	1.0	4240	BREAST	-	-	-	-	YWHAQ	ENST00000381844,p.T141M|ENST00000238081,p.T141M|NM_006826,p.T141M|uc002qzx.3,p.T141M	protein_coding, processed_transcript	uc002qzx.3	nonsynonymous SNV	exon4	c.C422T	p.T141M	LAEVACGDDRKQTIDNSQGAYQEAF	LAEVACGDDRKQMIDNSQGAYQEAF	10.0	2.0	-	-	4240_2:9728454-9728454 G>A_LAEVACGDDRKQMIDNSQGAYQEAF
12:108920032-108920032 G>A	1.0	4240	BREAST	-	-	-	-	SART3	uc010swz.1,p.L737F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010swz.1	nonsynonymous SNV	exon16	c.C2209T	p.L737F	RGLWGGGPDPTHLQQPWGFPRLLLR	RGLWGGGPDPTHFQQPWGFPRLLLR	9.0	4.0	unscreened	-	4240_12:108920032-108920032 G>A_RGLWGGGPDPTHFQQPWGFPRLLLR
1:201779842-201779842 G>A	1.0	4240	BREAST	-	-	-	-	NAV1	ENST00000367295,p.E1191K|NM_020443,p.E1585K|uc021phi.1,p.E1585K|ENST00000367297,p.E1577K|ENST00000367300,p.E1525K|ENST00000367302,p.E1538K|uc001gwx.3,p.E1191K|NM_001167738,p.E1191K|ENST00000295624,p.E1582K|ENST00000367296,p.E1585K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021phi.1	nonsynonymous SNV	exon24	c.G4753A	p.E1585K	EYLVERSGREVTEGIVSTFNMHQQS	EYLVERSGREVTKGIVSTFNMHQQS	7.0	6.0	-	-	4240_1:201779842-201779842 G>A_EYLVERSGREVTKGIVSTFNMHQQS
21:42813705-42813705 C>T	0.0	4240	BREAST	-	-	ID=COSM188229;OCCURENCE=1(large_intestine)	-	MX1	uc002yzh.3,p.R265W|ENST00000398598,p.R265W|ENST00000398600,p.R265W|ENST00000288383,p.R242W|uc010goq.3,p.R265W|NM_001282920,p.R265W|NM_001144925,p.R265W|NM_002462,p.R265W|uc002yzi.3,p.R265W|NM_001178046,p.R265W|ENST00000455164,p.R265W	retained_intron, protein_coding, processed_transcript	uc010goq.3	nonsynonymous SNV	exon8	c.C793T	p.R265W	DKGTEDKVVDVVRNLVFHLKKGYMI	DKGTEDKVVDVVWNLVFHLKKGYMI	6.0	7.0	-	-	4240_21:42813705-42813705 C>T_DKGTEDKVVDVVWNLVFHLKKGYMI
6:160218435-160218435 C>T	1.0	4240	BREAST	-	-	-	-	MRPL18	NM_014161,p.T119I|uc003qsw.4,p.T119I|ENST00000367034,p.T119I	protein_coding, processed_transcript	uc003qsw.4	nonsynonymous SNV	exon3	c.C356T	p.T119I	TREWAIKKHLYSTRNVVACESIGRV	TREWAIKKHLYSIRNVVACESIGRV	10.0	7.0	-	-	4240_6:160218435-160218435 C>T_TREWAIKKHLYSIRNVVACESIGRV
14:100758924-100758924 G>A	1.0	4240	BREAST	-	-	-	-	SLC25A29	ENST00000539621,p.S137F|ENST00000555927,p.S137F|NM_001291813,p.S137F|uc001yha.3,p.S203F|ENST00000556505,p.S137F|ENST00000554912,p.S137F|uc010avv.3,p.S137F|NM_001039355,p.S203F|NM_152333,p.S137F|ENST00000359232,p.S203F|NM_001291814,p.S137F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010avv.3	nonsynonymous SNV	exon3	c.C410T	p.S137F	KLLLAGGTSGIVSWLSTYPVDVVKS	KLLLAGGTSGIVFWLSTYPVDVVKS	10.0	4.0	unscreened	-	4240_14:100758924-100758924 G>A_KLLLAGGTSGIVFWLSTYPVDVVKS
18:48722969-48722969 G>C	1.0	4240	BREAST	-	-	-	-	MEX3C	ENST00000406189,p.S241C|uc002lfc.4,p.S241C|NM_016626,p.S241C	protein_coding, processed_transcript	uc002lfc.4	nonsynonymous SNV	exon1	c.C722G	p.S241C	SVNTTECVPVPSSEHVAEIVGRQGC	SVNTTECVPVPSCEHVAEIVGRQGC	7.0	9.0	-	-	4240_18:48722969-48722969 G>C_SVNTTECVPVPSCEHVAEIVGRQGC
6:656374-656374 G>T	1.0	4240	BREAST	-	-	-	-	HUS1B	ENST00000380907,p.L191M|uc003mtg.3,p.L191M|NM_148959,p.L191M	protein_coding	uc003mtg.3	nonsynonymous SNV	exon1	c.C571A	p.L191M	VLVEANLSGRMTLSIETEVVSIQSY	VLVEANLSGRMTMSIETEVVSIQSY	6.0	1.0	unscreened	-	4240_6:656374-656374 G>T_VLVEANLSGRMTMSIETEVVSIQSY
7:72922754-72922754 A>C	1.0	4240	BREAST	-	-	-	-	BAZ1B	ENST00000404251,p.M91R|ENST00000339594,p.M91R|NM_032408,p.M91R|uc003tyc.3,p.M91R	retained_intron, protein_coding	uc003tyc.3	nonsynonymous SNV	exon3	c.T272G	p.M91R	EFPAWYEKLVLEMVHHNTASLEKLV	EFPAWYEKLVLERVHHNTASLEKLV	10.0	7.0	-	-	4240_7:72922754-72922754 A>C_EFPAWYEKLVLERVHHNTASLEKLV
20:44582337-44582337 G>A	1.0	4240	BREAST	-	-	-	-	ZNF335	ENST00000426788,p.T743I|uc010zxk.2,p.T743I|ENST00000322927,p.T898I|uc002xqw.3,p.T898I|NM_022095,p.T898I	protein_coding, processed_transcript	uc010zxk.2	nonsynonymous SNV	exon15	c.C2228T	p.T743I	APPMEEGTSAPGTPYSEEPAGEAAQ	APPMEEGTSAPGIPYSEEPAGEAAQ	9.0	7.0	-	-	4240_20:44582337-44582337 G>A_APPMEEGTSAPGIPYSEEPAGEAAQ
3:113514786-113514786 G>C	1.0	4240	BREAST	-	-	-	-	ATP6V1A	uc003eao.3,p.Q430H|uc011bik.2,p.Q397H|ENST00000538620,p.Q397H|NM_001690,p.Q430H|ENST00000273398,p.Q430H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bik.2	nonsynonymous SNV	exon12	c.G1191C	p.Q397H	SDPVTSATLGIVQVFWGLDKKLAQR	SDPVTSATLGIVHVFWGLDKKLAQR	9.0	9.0	-	-	4240_3:113514786-113514786 G>C_SDPVTSATLGIVHVFWGLDKKLAQR
10:88730295-88730295 G>A	1.0	4240	BREAST	-	-	-	-	ADIRF	ENST00000372013,p.D63N|NM_006829,p.D63N|ENST00000561504,p.D63N|uc001ked.2,p.D63N	protein_coding	uc001ked.2	nonsynonymous SNV	exon3	c.G187A	p.D63N	QETIDKTANQASDTFSGIGKKFGLL	QETIDKTANQASNTFSGIGKKFGLL	9.0	7.0	unscreened	-	4240_10:88730295-88730295 G>A_QETIDKTANQASNTFSGIGKKFGLL
6:152722359-152722359 C>T	0.0	4240	BREAST	-	-	-	-	SYNE1	NM_182961,p.D2315N|ENST00000341594,p.D2352N|uc003qot.4,p.D2322N|ENST00000448038,p.D2322N|ENST00000367255,p.D2315N|ENST00000423061,p.D2322N|uc010kjb.1,p.D2298N|NM_033071,p.D2322N|ENST00000265368,p.D2315N|uc003qou.4,p.D2315N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kjb.1	nonsynonymous SNV	exon45	c.G6892A	p.D2298N	TAQSTQVEKFINDITTWFTKVEESL	TAQSTQVEKFINNITTWFTKVEESL	7.0	3.0	unscreened	-	4240_6:152722359-152722359 C>T_TAQSTQVEKFINNITTWFTKVEESL
12:56825281-56825281 C>G	1.0	4240	BREAST	-	-	-	-	TIMELESS	ENST00000553532,p.K265N|uc001slg.2,p.K264N|ENST00000229201,p.K264N|ENST00000554616,p.K265N|NM_003920,p.K265N|uc001slf.2,p.K265N	retained_intron, protein_coding	uc001slg.2	nonsynonymous SNV	exon8	c.G792C	p.K264N	LEVLRQREMAEKKTRALQRGNRHSR	LEVLRQREMAEKNTRALQRGNRHSR	9.0	8.0	-	-	4240_12:56825281-56825281 C>G_LEVLRQREMAEKNTRALQRGNRHSR
3:50330111-50330111 G>A	0.0	4240	BREAST	-	-	-	-	IFRD2;HYAL3	ENST00000336089,p.S65L|uc003czb.3,p.S65L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003czb.3	nonsynonymous SNV	exon2	c.C194T	p.S65L	SQSCLGAPLRDASELTTVHLFPTRG	SQSCLGAPLRDALELTTVHLFPTRG	10.0	8.0	-	-	4240_3:50330111-50330111 G>A_SQSCLGAPLRDALELTTVHLFPTRG
1:156035812-156035812 C>T	1.0	4240	BREAST	-	-	-	-	RAB25	ENST00000361084,p.R52C|NM_020387,p.R52C|uc001fnc.3,p.R52C	protein_coding, processed_transcript	uc001fnc.3	nonsynonymous SNV	exon2	c.C154T	p.R52C	DSRTTIGVEFSTRTVMLGTAAVKAQ	DSRTTIGVEFSTCTVMLGTAAVKAQ	10.0	1.0	-	-	4240_1:156035812-156035812 C>T_DSRTTIGVEFSTCTVMLGTAAVKAQ
1:153735740-153735740 C>G	1.0	4240	BREAST	-	-	-	-	INTS3	ENST00000435409,p.I556M|ENST00000512605,p.I350M|uc009wom.3,p.I556M|uc010peb.2,p.I350M|uc010pec.2,p.I69M|uc001fct.3,p.I556M|uc001fcw.3,p.I69M|NM_023015,p.I556M|ENST00000318967,p.I556M|ENST00000456435,p.I350M|uc001fcv.3,p.I350M|uc001fcu.3,p.I248M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010pec.2	nonsynonymous SNV	exon4	c.C207G	p.I69M	SKGKKREFRFHPIKETVVEEPVDIT	SKGKKREFRFHPMKETVVEEPVDIT	9.0	8.0	-	-	4240_1:153735740-153735740 C>G_SKGKKREFRFHPMKETVVEEPVDIT
17:7578265-7578265 A>G	1.0	4240	BREAST	-	-	ID=COSM116924,COSM11089,COSM1645297,COSM3421936,COSM116923,COSM116921,COSM116922;OCCURENCE=3(haematopoietic_and_lymphoid_tissue),3(lung),3(oesophagus),3(upper_aerodigestive_tract),7(central_nervous_system),3(stomach),9(large_intestine),1(biliary_tract),1(pancreas),1(liver),2(urinary_tract),1(small_intestine),15(breast),3(endometrium),29(ovary)	1	TP53	uc002gin.3,p.I102T|NM_001276697,p.I36T|NM_001276761,p.I156T|ENST00000359597,p.I195T|uc010cng.2,p.I36T|NM_001126115,p.I63T|uc031qyq.1,p.I156T|NM_001126117,p.I63T|uc002gig.1,p.I195T|NM_001126113,p.I195T|uc002gio.3,p.I63T|NM_001276699,p.I36T|NM_001276698,p.I36T|NM_001276760,p.I156T|ENST00000514944,p.I102T|NM_000546,p.I195T|ENST00000420246,p.I195T|ENST00000269305,p.I195T|ENST00000413465,p.I195T|uc010cnf.2,p.I36T|uc002gij.3,p.I156T|ENST00000509690,p.I63T|uc002gih.3,p.I195T|NM_001276696,p.I156T|NM_001126118,p.I156T|ENST00000445888,p.I195T|uc010vug.3,p.I156T|NM_001126112,p.I195T|NM_001126116,p.I63T|NM_001126114,p.I195T|ENST00000455263,p.I195T|NM_001276695,p.I156T|uc002gii.2,p.I36T	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon5	c.T467C	p.I156T	SDSDGLAPPQHLIRVEGNLRVEYLD	SDSDGLAPPQHLTRVEGNLRVEYLD	10.0	10.0	-	-	4240_17:7578265-7578265 A>G_SDSDGLAPPQHLTRVEGNLRVEYLD
12:118693266-118693266 C>A	0.0	4240	BREAST	-	-	-	-	TAOK3	ENST00000541878,p.G36V|ENST00000392533,p.G36V|NM_016281,p.G36V|ENST00000541186,p.G36V|ENST00000419821,p.G36V|ENST00000542902,p.G36V|ENST00000535570,p.G36V|uc001twy.4,p.G36V|uc001twx.3,p.G36V	retained_intron, protein_coding, processed_transcript	uc001twy.4	nonsynonymous SNV	exon3	c.G107T	p.G36V	FIGLHEIGHGSFGAVYFATNAHTSE	FIGLHEIGHGSFVAVYFATNAHTSE	10.0	6.0	unscreened	-	4240_12:118693266-118693266 C>A_FIGLHEIGHGSFVAVYFATNAHTSE
11:8643337-8643337 T>C	1.0	4240	BREAST	-	-	-	-	TRIM66	ENST00000402157,p.Y890C|ENST00000299550,p.Y861C|uc010rbo.2,p.Y861C|NM_014818,p.Y861C	retained_intron, protein_coding, processed_transcript	uc010rbo.2	nonsynonymous SNV	exon14	c.A2582G	p.Y861C	SIRAFNSEHKIPYVRLERLKICAAS	SIRAFNSEHKIPCVRLERLKICAAS	7.0	10.0	-	-	4240_11:8643337-8643337 T>C_SIRAFNSEHKIPCVRLERLKICAAS
9:134406020-134406020 C>G	1.0	4240	BREAST	-	-	-	-	UCK1	NM_001261450,p.E32Q|ENST00000372210,p.E32Q|uc010mzk.4,p.E32Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc010mzk.4	nonsynonymous SNV	exon2	c.G94C	p.E32Q	HQRPFLIGSTVCEKIMELLGQNEVE	HQRPFLIGSTVCQKIMELLGQNEVE	8.0	2.0	unscreened	-	4240_9:134406020-134406020 C>G_HQRPFLIGSTVCQKIMELLGQNEVE
10:61926361-61926361 C>G	0.0	4240	BREAST	-	-	-	-	ANK3	ENST00000474360,p.D42H|NM_001204404,p.D851H|ENST00000503366,p.D851H|uc010qih.2,p.D851H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qih.2	nonsynonymous SNV	exon23	c.G2551C	p.D851H	APEMLSDGEYISDVEEGNRCTWYKI	APEMLSDGEYISHVEEGNRCTWYKI	7.0	3.0	unscreened	-	4240_10:61926361-61926361 C>G_APEMLSDGEYISHVEEGNRCTWYKI
3:37330763-37330763 G>C	1.0	4240	BREAST	-	-	-	-	GOLGA4	uc003cgx.3,p.R69T|uc003cgv.3,p.R188T|ENST00000437131,p.R59T|NM_001172713,p.R210T|ENST00000361924,p.R188T|ENST00000356847,p.R210T|NM_002078,p.R188T|uc003cgw.3,p.R210T	retained_intron, protein_coding, processed_transcript	uc003cgx.3	nonsynonymous SNV	exon3	c.G206C	p.R69T	GILSQSQDKSLRRIAELREELQMDQ	GILSQSQDKSLRTIAELREELQMDQ	9.0	1.0	unscreened	-	4240_3:37330763-37330763 G>C_GILSQSQDKSLRTIAELREELQMDQ
20:49218946-49218946 G>T	0.0	4240	BREAST	-	-	-	-	FAM65C	uc002xvm.3,p.S437Y|NM_080829,p.S437Y|ENST00000045083,p.S437Y|uc010zyt.2,p.S441Y|ENST00000535356,p.S441Y|uc002xvn.1,p.S437Y|NM_001290268,p.S441Y|ENST00000327979,p.S437Y	retained_intron, protein_coding, processed_transcript	uc010zyt.2	nonsynonymous SNV	exon13	c.C1322A	p.S441Y	VGFLPLTFGPHASIEEEAREDPLPP	VGFLPLTFGPHAYIEEEAREDPLPP	7.0	1.0	unscreened	-	4240_20:49218946-49218946 G>T_VGFLPLTFGPHAYIEEEAREDPLPP
7:5529563-5529563 G>A	0.0	4240	BREAST	-	-	-	-	FBXL18	ENST00000453700,p.H761Y|uc003soo.2,p.H761Y	protein_coding, nonsense_mediated_decay	uc003soo.2	nonsynonymous SNV	exon5	c.C2281T	p.H761Y	IFFLVCLFETESHSVVQAGVQWRDL	IFFLVCLFETESYSVVQAGVQWRDL	7.0	8.0	-	-	4240_7:5529563-5529563 G>A_IFFLVCLFETESYSVVQAGVQWRDL
5:131607753-131607753 A>T	1.0	4240	BREAST	-	-	-	-	PDLIM4	uc003kwp.3,p.I236F|ENST00000379018,p.I236F|NM_001131027,p.I236F	retained_intron, protein_coding, processed_transcript	uc003kwp.3	nonsynonymous SNV	exon6	c.A706T	p.I236F	GAPSSRHGTSSTIPSASCAVTAA	GAPSSRHGTSSTFPSASCAVTAA	8.0	3.0	unscreened	-	4240_5:131607753-131607753 A>T_GAPSSRHGTSSTFPSASCAVTAA
3:178936091-178936091 G>A	1.0	4240	BREAST	-	-	ID=COSM763,COSM125370;OCCURENCE=4(salivary_gland),38(endometrium),4(soft_tissue),28(ovary),1(pituitary),4(kidney),3(pancreas),3(liver),126(urinary_tract),1(biliary_tract),373(large_intestine),1(prostate),365(breast),16(skin),1(small_intestine),41(upper_aerodigestive_tract),8(oesophagus),18(stomach),17(central_nervous_system),21(cervix),7(gastrointestinal_tract_(site_indeterminate)),4(penis),44(lung),7(thyroid)	1	PIK3CA	NM_006218,p.E545K|uc003fjk.3,p.E545K|ENST00000263967,p.E545K	retained_intron, protein_coding	uc003fjk.3	nonsynonymous SNV	exon10	c.G1633A	p.E545K	AISTRDPLSEITEQEKDFLWSHRHY	AISTRDPLSEITKQEKDFLWSHRHY	6.0	10.0	-	-	4240_3:178936091-178936091 G>A_AISTRDPLSEITKQEKDFLWSHRHY
19:50358313-50358313 C>G	1.0	4240	BREAST	-	-	-	-	PTOV1	uc010ybf.2,p.C147W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ybf.2	nonsynonymous SNV	exon5	c.C441G	p.C147W	FTNRDCDSLKGLCRIMGNGFVSGAG	FTNRDCDSLKGLWRIMGNGFVSGAG	10.0	5.0	unscreened	-	4240_19:50358313-50358313 C>G_FTNRDCDSLKGLWRIMGNGFVSGAG
5:86672380-86672380 G>C	1.0	4240	BREAST	-	-	-	-	RASA1	ENST00000274376,p.E728Q|uc003kix.3,p.E551Q|uc011ctv.2,p.E561Q|uc010jaw.3,p.E550Q|uc003kiw.3,p.E728Q|NM_022650,p.E551Q|ENST00000512763,p.E561Q|uc011ctw.2,p.E562Q|ENST00000506290,p.E562Q|ENST00000456692,p.E551Q|NM_002890,p.E728Q	retained_intron, protein_coding, nonsense_mediated_decay	uc011ctw.2	nonsynonymous SNV	exon17	c.G1684C	p.E562Q	KIMPEEEYSEFKELILQKELHVVYA	KIMPEEEYSEFKQLILQKELHVVYA	8.0	9.0	-	-	4240_5:86672380-86672380 G>C_KIMPEEEYSEFKQLILQKELHVVYA
4:4861982-4861982 C>T	0.0	4240	BREAST	-	-	-	-	MSX1	ENST00000382723,p.S119L|uc003gif.3,p.S119L|NM_002448,p.S119L	protein_coding	uc003gif.3	nonsynonymous SNV	exon1	c.C356T	p.S119L	DAPSSPRPLGHFSVGGLLKLPEDAL	DAPSSPRPLGHFLVGGLLKLPEDAL	6.0	8.0	-	-	4240_4:4861982-4861982 C>T_DAPSSPRPLGHFLVGGLLKLPEDAL
17:26955570-26955570 G>C	1.0	4240	BREAST	-	-	-	-	KIAA0100	ENST00000389003,p.S1293C|NM_014680,p.S1436C|uc002hbu.3,p.S1436C|ENST00000544884,p.S1293C|ENST00000528896,p.S1436C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002hbu.3	nonsynonymous SNV	exon24	c.C4307G	p.S1436C	QRHSNRTAEEELSARDGDPTFHTHQ	QRHSNRTAEEELCARDGDPTFHTHQ	10.0	7.0	-	-	4240_17:26955570-26955570 G>C_QRHSNRTAEEELCARDGDPTFHTHQ
10:61926361-61926361 C>G	0.0	4240	BREAST	-	-	-	-	ANK3	NM_020987,p.D868H|uc001jkx.3,p.D46H|uc001jky.3,p.D868H|uc001jkz.4,p.D862H|NM_001204403,p.D862H|ENST00000373827,p.D862H|ENST00000280772,p.D868H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jkz.4	nonsynonymous SNV	exon24	c.G2584C	p.D862H	APEMLSDGEYISDVEEGEDAMTGDT	APEMLSDGEYISHVEEGEDAMTGDT	7.0	3.0	unscreened	-	4240_10:61926361-61926361 C>G_APEMLSDGEYISHVEEGEDAMTGDT
6:158564153-158564153 C>G	0.0	4240	BREAST	-	-	-	-	SERAC1	ENST00000367104,p.E225Q|uc003qrc.2,p.E225Q|ENST00000606965,p.E225Q|ENST00000367102,p.E225Q|ENST00000367101,p.E225Q|NM_032861,p.E225Q	protein_coding	uc003qrc.2	nonsynonymous SNV	exon8	c.G673C	p.E225Q	QLLASLPQTELDECIQYFTSLALSE	QLLASLPQTELDQCIQYFTSLALSE	6.0	10.0	-	-	4240_6:158564153-158564153 C>G_QLLASLPQTELDQCIQYFTSLALSE
5:10411566-10411566 C>T	1.0	4240	BREAST	-	-	-	-	MARCH6	uc003jeu.2,p.H303Y|uc011cmv.2,p.H500Y|ENST00000449913,p.H557Y|NM_005885,p.H605Y|ENST00000274140,p.H605Y|uc003jet.2,p.H605Y|uc011cmu.2,p.H557Y|ENST00000503788,p.H500Y|NM_001270660,p.H557Y|NM_001270661,p.H500Y|ENST00000510792,p.H303Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cmv.2	nonsynonymous SNV	exon16	c.C1498T	p.H500Y	NNNAIPVVGEGLHAAHQAILQQGGP	NNNAIPVVGEGLYAAHQAILQQGGP	9.0	9.0	-	-	4240_5:10411566-10411566 C>T_NNNAIPVVGEGLYAAHQAILQQGGP
X:19560063-19560063 C>G	1.0	4240	BREAST	-	-	-	-	SH3KBP1	ENST00000379726,p.E604D|uc011mje.2,p.E363D|NM_031892,p.E624D|ENST00000379698,p.E587D|NM_001024666,p.E587D|ENST00000379716,p.E386D|uc011mjf.2,p.E386D|NM_001184960,p.E386D|uc004czl.3,p.E587D|uc004czm.3,p.E624D|uc010nfm.3,p.E69D|ENST00000541422,p.E363D|ENST00000397821,p.E624D	protein_coding, processed_transcript	uc011mjf.2	nonsynonymous SNV	exon11	c.G1158C	p.E386D	LRTQVRELRSIIETMKDQQKREIKQ	LRTQVRELRSIIDTMKDQQKREIKQ	6.0	8.0	-	-	4240_X:19560063-19560063 C>G_LRTQVRELRSIIDTMKDQQKREIKQ
6:30863232-30863232 G>A	1.0	4240	BREAST	-	-	ID=COSM252467,COSM252466;OCCURENCE=1(large_intestine),1(ovary)	-	DDR1	ENST00000417521,p.V291I|ENST00000361741,p.V226I|uc003nrw.1,p.V294I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003nrw.1	nonsynonymous SNV	exon7	c.G880A	p.V294I	IQPTASFWPLTPVPLEARAPPHPPG	IQPTASFWPLTPIPLEARAPPHPPG	10.0	5.0	-	-	4240_6:30863232-30863232 G>A_IQPTASFWPLTPIPLEARAPPHPPG
7:149171717-149171717 G>T	1.0	4240	BREAST	-	-	-	-	ZNF746	uc010lpi.2,p.P566T|ENST00000340622,p.P565T|uc003wfw.2,p.P565T|ENST00000458143,p.P566T|NM_001163474,p.P566T|NM_152557,p.P565T	retained_intron, protein_coding	uc010lpi.2	nonsynonymous SNV	exon7	c.C1696A	p.P566T	LIDHYRTHTGVRPFTCTVCGKSFIR	LIDHYRTHTGVRTFTCTVCGKSFIR	7.0	9.0	-	-	4240_7:149171717-149171717 G>T_LIDHYRTHTGVRTFTCTVCGKSFIR
22:42525856-42525856 A>G	0.0	4240	BREAST	-	-	-	-	CYP2D6	ENST00000360608,p.V79A|ENST00000359033,p.V79A|ENST00000360124,p.V19A|ENST00000389970,p.V79A|uc003bce.3,p.V79A|uc003bcf.3,p.V79A|NM_000106,p.V79A|NM_001025161,p.V79A	retained_intron, protein_coding, nonsense_mediated_decay	uc003bcf.3	nonsynonymous SNV	exon2	c.T236C	p.V79A	DVFSLQLAWTPVVVLNGLAAVREAL	DVFSLQLAWTPVAVLNGLAAVREAL	5.0	9.0	-	-	4240_22:42525856-42525856 A>G_DVFSLQLAWTPVAVLNGLAAVREAL
1:213302918-213302918 C>T	0.0	4240	BREAST	-	-	-	-	RPS6KC1	uc001hkd.3,p.S162F|NM_001136138,p.S162F|ENST00000366959,p.S162F|uc010ptr.2,p.S174F|NM_012424,p.S174F|ENST00000366960,p.S174F	protein_coding, processed_transcript	uc010ptr.2	nonsynonymous SNV	exon6	c.C521T	p.S174F	DSDLVSLTVDVDSLAELDDGMASNQ	DSDLVSLTVDVDFLAELDDGMASNQ	7.0	3.0	unscreened	-	4240_1:213302918-213302918 C>T_DSDLVSLTVDVDFLAELDDGMASNQ
17:48753809-48753809 G>T	0.0	4240	BREAST	-	-	-	-	ABCC3	ENST00000285238,p.D1080Y|uc002isl.3,p.D1080Y|NM_003786,p.D1080Y|ENST00000505699,p.D1080Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002isl.3	nonsynonymous SNV	exon23	c.G3238T	p.D1080Y	ILNCFSKDIYVVDEVLAPVILMLLN	ILNCFSKDIYVVYEVLAPVILMLLN	8.0	5.0	unscreened	-	4240_17:48753809-48753809 G>T_ILNCFSKDIYVVYEVLAPVILMLLN
10:13705462-13705462 G>C	1.0	4240	BREAST	-	-	-	-	FRMD4A	ENST00000378503,p.L551V|uc009xjf.1,p.L551V|uc001ims.3,p.L551V|NM_018027,p.L551V|ENST00000358621,p.L536V|ENST00000357447,p.L551V	protein_coding, processed_transcript	uc009xjf.1	nonsynonymous SNV	exon19	c.C1651G	p.L551V	ASEDSSLSDALVLEDEDSQVTSTIS	ASEDSSLSDALVVEDEDSQVTSTIS	9.0	7.0	-	-	4240_10:13705462-13705462 G>C_ASEDSSLSDALVVEDEDSQVTSTIS
20:257898-257898 C>T	0.0	4240	BREAST	-	-	-	-	C20orf96	uc010zpj.1,p.R196H|uc002wde.2,p.R231H|uc010zpk.2,p.R169H|uc010zpi.2,p.R178H|ENST00000360321,p.R231H|uc021vzl.1,p.R230H|NM_153269,p.R231H|ENST00000400269,p.R173H|NM_080571,p.R230H|ENST00000382369,p.R196H	protein_coding	uc021vzl.1	nonsynonymous SNV	exon7	c.G689A	p.R230H	YSIKSVQISTLMRQLQQVKDSQQDE	YSIKSVQISTLMHQLQQVKDSQQDE	8.0	3.0	unscreened	-	4240_20:257898-257898 C>T_YSIKSVQISTLMHQLQQVKDSQQDE
X:122771921-122771921 C>T	0.0	4240	BREAST	-	-	-	-	THOC2	ENST00000355725,p.D632N|uc004etu.3,p.D632N|NM_001081550,p.D632N|ENST00000245838,p.D632N|uc011muh.1,p.D557N|ENST00000491737,p.D517N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011muh.1	nonsynonymous SNV	exon16	c.G1669A	p.D557N	LANPEKERMKHDDTTISSWLQSLAS	LANPEKERMKHDNTTISSWLQSLAS	10.0	7.0	-	-	4240_X:122771921-122771921 C>T_LANPEKERMKHDNTTISSWLQSLAS
15:75977747-75977747 G>A	0.0	4240	BREAST	0.0009	-	-	-	CSPG4	NM_001897,p.A1362V|ENST00000308508,p.A1362V|uc002baw.3,p.A1362V	protein_coding	uc002baw.3	nonsynonymous SNV	exon4	c.C4085T	p.A1362V	ELEVLPAAIPLEAQNFSVPEGGSLT	ELEVLPAAIPLEVQNFSVPEGGSLT	5.0	1.0	unscreened	-	4240_15:75977747-75977747 G>A_ELEVLPAAIPLEVQNFSVPEGGSLT
20:62572474-62572474 G>C	1.0	4240	BREAST	-	-	-	-	UCKL1	ENST00000369892,p.H337Q|uc011abm.2,p.H322Q|NM_017859,p.H337Q|NM_001193379,p.H322Q|ENST00000369908,p.H322Q|ENST00000354216,p.H337Q|uc010gkn.3,p.H337Q	protein_coding, processed_transcript	uc011abm.2	nonsynonymous SNV	exon9	c.C966G	p.H322Q	SVLKSTPQVRGMHTIIRDKETSRDE	SVLKSTPQVRGMQTIIRDKETSRDE	9.0	1.0	unscreened	-	4240_20:62572474-62572474 G>C_SVLKSTPQVRGMQTIIRDKETSRDE
4:155505422-155505422 C>T	0.0	4240	BREAST	-	-	-	-	FGA	ENST00000302053,p.G819R|uc003iod.1,p.G819R|NM_000508,p.G819R	protein_coding	uc003iod.1	nonsynonymous SNV	exon6	c.G2455A	p.G819R	WWYNNCQAANLNGIYYPGGSYDPRN	WWYNNCQAANLNRIYYPGGSYDPRN	9.0	6.0	unscreened	-	4240_4:155505422-155505422 C>T_WWYNNCQAANLNRIYYPGGSYDPRN
14:38061213-38061213 T>C	1.0	4240	BREAST	-	-	-	1	FOXA1	ENST00000250448,p.Y259C|uc001wuf.4,p.Y259C|ENST00000540786,p.Y226C|NM_004496,p.Y259C|uc010tpz.3,p.Y226C	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tpz.3	nonsynonymous SNV	exon2	c.A677G	p.Y226C	HPDSGNMFENGCYLRRQKRFKCEKQ	HPDSGNMFENGCCLRRQKRFKCEKQ	10.0	10.0	-	-	4240_14:38061213-38061213 T>C_HPDSGNMFENGCCLRRQKRFKCEKQ
1:178414712-178414712 G>C	1.0	4240	BREAST	-	-	-	-	RASAL2	uc001glq.3,p.L514F|NM_170692,p.L514F|uc001glr.3,p.L366F|ENST00000448150,p.L496F|NM_004841,p.L366F|ENST00000367649,p.L514F|ENST00000462775,p.L366F	retained_intron, protein_coding, processed_transcript	uc001glr.3	nonsynonymous SNV	exon7	c.G1098C	p.L366F	MSEVDRCGEHDVLIFRENTIATKSI	MSEVDRCGEHDVFIFRENTIATKSI	7.0	10.0	-	-	4240_1:178414712-178414712 G>C_MSEVDRCGEHDVFIFRENTIATKSI
8:10177450-10177450 C>T	1.0	4240	BREAST	-	-	-	-	MSRA	NM_012331,p.S165F|NM_001135670,p.S125F|ENST00000528246,p.S99F|ENST00000441698,p.S125F|uc003wsx.3,p.S165F|NM_001199729,p.S99F|uc011kwy.1,p.S122F|ENST00000518255,p.S165F|uc003wsy.3,p.S99F|ENST00000382490,p.S122F|ENST00000317173,p.S165F|NM_001135671,p.S122F|uc011kwx.2,p.S125F|uc003wsz.3,p.S122F	retained_intron, protein_coding, processed_transcript	uc011kwy.1	nonsynonymous SNV	exon5	c.C365T	p.S122F	HGTQYRSAIYPTSAKQMEAALSSKE	HGTQYRSAIYPTFAKQMEAALSSKE	7.0	10.0	-	-	4240_8:10177450-10177450 C>T_HGTQYRSAIYPTFAKQMEAALSSKE
19:54976592-54976592 G>A	0.0	4240	BREAST	-	-	-	-	CDC42EP5	ENST00000301200,p.S47L|uc002qfz.1,p.S47L|NM_145057,p.S47L	protein_coding, processed_transcript	uc002qfz.1	nonsynonymous SNV	exon3	c.C140T	p.S47L	HVGRGGDAFGDTSFLSRHGGGPPPE	HVGRGGDAFGDTLFLSRHGGGPPPE	6.0	8.0	-	-	4240_19:54976592-54976592 G>A_HVGRGGDAFGDTLFLSRHGGGPPPE
16:1812874-1812874 C>G	1.0	4240	BREAST	-	-	-	-	MAPK8IP3	ENST00000356010,p.P582A|NM_001040439,p.P582A|NM_015133,p.P588A|uc021tah.1,p.P582A|uc010uvl.2,p.P589A|uc002cmk.3,p.P588A|ENST00000250894,p.P588A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tah.1	nonsynonymous SNV	exon15	c.C1744G	p.P582A	FSRLFSSSSSPPPAKRPYPSVNIHY	FSRLFSSSSSPPAAKRPYPSVNIHY	9.0	3.0	unscreened	-	4240_16:1812874-1812874 C>G_FSRLFSSSSSPPAAKRPYPSVNIHY
5:131607753-131607753 A>T	1.0	4240	BREAST	-	-	-	-	PDLIM4	ENST00000253754,p.H275L|uc003kwo.3,p.H383L|uc003kwn.3,p.H275L|NM_003687,p.H275L	retained_intron, protein_coding, processed_transcript	uc003kwo.3	nonsynonymous SNV	exon6	c.A1148T	p.H383L	VGTIVKARDKLYHPECFMCSDCGLN	VGTIVKARDKLYLPECFMCSDCGLN	8.0	3.0	unscreened	-	4240_5:131607753-131607753 A>T_VGTIVKARDKLYLPECFMCSDCGLN
6:119526006-119526006 C>G	0.0	4240	BREAST	-	-	-	-	MAN1A1	NM_005907,p.S345T|ENST00000368468,p.S345T|uc003pym.2,p.S345T	protein_coding	uc003pym.2	nonsynonymous SNV	exon7	c.G1034C	p.S345T	IGRNWPWASGGSSILAEFGTLHLEF	IGRNWPWASGGSTILAEFGTLHLEF	7.0	4.0	unscreened	-	4240_6:119526006-119526006 C>G_IGRNWPWASGGSTILAEFGTLHLEF
1:183103825-183103825 G>A	1.0	4240	BREAST	-	-	-	-	LAMC1	NM_002293,p.E1294K|uc001gpy.4,p.E1294K|ENST00000258341,p.E1294K	protein_coding, processed_transcript	uc001gpy.4	nonsynonymous SNV	exon23	c.G3880A	p.E1294K	LENEANNIKMEAENLEQLIDQKLKD	LENEANNIKMEAKNLEQLIDQKLKD	8.0	3.0	unscreened	-	4240_1:183103825-183103825 G>A_LENEANNIKMEAKNLEQLIDQKLKD
11:128839392-128839392 T>G	1.0	4240	BREAST	-	-	-	-	ARHGAP32	ENST00000392657,p.K1543Q|uc001qez.3,p.K1543Q|uc009zco.3,p.K851Q|NM_001142685,p.K1892Q|NM_014715,p.K1543Q|ENST00000527272,p.K1543Q|ENST00000310343,p.K1892Q|uc009zcp.3,p.K1892Q	retained_intron, protein_coding	uc009zcp.3	nonsynonymous SNV	exon22	c.A5674C	p.K1892Q	HQEASHRQFCESKNGPPYPQGAGQL	HQEASHRQFCESQNGPPYPQGAGQL	8.0	5.0	-	-	4240_11:128839392-128839392 T>G_HQEASHRQFCESQNGPPYPQGAGQL
20:25203614-25203614 G>C	1.0	4240	BREAST	-	-	-	-	ENTPD6	uc002wuo.2,p.D148H|uc010zsz.1,p.D178H|uc002wul.2,p.D395H|uc002wuj.2,p.D396H|ENST00000360031,p.D395H|uc010ztc.1,p.D368H|ENST00000376652,p.D396H|NM_001247,p.D396H|uc002wum.2,p.D379H|uc002wuk.2,p.D395H|uc010ztb.1,p.D368H|uc010ztd.1,p.D144H|ENST00000354989,p.D379H|ENST00000433259,p.D362H|uc010zta.1,p.D396H|NM_001114089,p.D379H	protein_coding, processed_transcript	uc010ztd.1	nonsynonymous SNV	exon8	c.G430C	p.D144H	YYYDLAAGVGLIDAEKGGSLVVGDF	YYYDLAAGVGLIHAEKGGSLVVGDF	10.0	10.0	-	-	4240_20:25203614-25203614 G>C_YYYDLAAGVGLIHAEKGGSLVVGDF
1:22191538-22191538 G>A	0.0	4240	BREAST	-	-	-	-	HSPG2	NM_001291860,p.P1476L|uc009vqd.3,p.P1476L|NM_005529,p.P1475L|uc001bfj.3,p.P1475L|ENST00000374695,p.P1475L	protein_coding, processed_transcript, nonsense_mediated_decay	uc009vqd.3	nonsynonymous SNV	exon36	c.C4427T	p.P1476L	FREEFWRRPDGQPATREHLLMALAD	FREEFWRRPDGQLATREHLLMALAD	9.0	8.0	-	-	4240_1:22191538-22191538 G>A_FREEFWRRPDGQLATREHLLMALAD
19:58864378-58864378 C>T	0.0	4240	BREAST	-	-	-	1	A1BG	ENST00000263100,p.D86N|uc002qsd.4,p.D86N|ENST00000600966,p.D40N|NM_130786,p.D86N	retained_intron, protein_coding, processed_transcript	uc002qsd.4	nonsynonymous SNV	exon3	c.G256A	p.D86N	SPAIKHQFLLTGDTQGRYRCRSGLS	SPAIKHQFLLTGNTQGRYRCRSGLS	10.0	7.0	-	-	4240_19:58864378-58864378 C>T_SPAIKHQFLLTGNTQGRYRCRSGLS
6:152419922-152419922 T>A	1.0	4240	BREAST	-	-	ID=COSM1074635;OCCURENCE=1(endometrium)	1	ESR1	uc010kiq.3,p.Y135N|ENST00000206249,p.Y537N|NM_001291241,p.Y536N|uc021zha.1,p.Y80N|uc010kio.3,p.Y539N|ENST00000338799,p.Y537N|NM_001122740,p.Y537N|NM_001122742,p.Y537N|ENST00000440973,p.Y537N|uc003qon.4,p.Y537N|ENST00000406599,p.Y276N|uc003qoo.4,p.Y537N|uc010kir.3,p.Y276N|uc003qom.4,p.Y537N|uc010kin.3,p.Y537N|NM_001291230,p.Y539N|uc010kip.3,p.Y536N|uc011eev.2,p.Y122N|uc011eex.2,p.Y212N|ENST00000456483,p.Y425N|NM_001122741,p.Y537N|NM_000125,p.Y537N|ENST00000443427,p.Y537N	protein_coding, processed_transcript	uc021zha.1	nonsynonymous SNV	exon3	c.T238A	p.Y80N	LYSMKCKNVVPLYDLLLEMLDAHRL	LYSMKCKNVVPLNDLLLEMLDAHRL	10.0	6.0	-	-	4240_6:152419922-152419922 T>A_LYSMKCKNVVPLNDLLLEMLDAHRL
19:56126857-56126857 C>G	1.0	4240	BREAST	-	-	-	-	ZNF865	uc021vca.1,p.R625G|NM_001195605,p.R625G|ENST00000568956,p.R625G	protein_coding	uc021vca.1	nonsynonymous SNV	exon1	c.C1873G	p.R625G	KVFGYPQSLTRHRQVHRLQLPCALA	KVFGYPQSLTRHGQVHRLQLPCALA	8.0	2.0	unscreened	-	4240_19:56126857-56126857 C>G_KVFGYPQSLTRHGQVHRLQLPCALA
19:50358313-50358313 C>G	1.0	4240	BREAST	-	-	-	-	PTOV1	uc002pqb.4,p.C147W|ENST00000594151,p.C194W|NM_017432,p.C179W|ENST00000221557,p.C147W|ENST00000391842,p.C179W|ENST00000600603,p.C147W|ENST00000601638,p.C147W|ENST00000601612,p.C147W|uc002pqf.1,p.C179W|ENST00000599732,p.C179W|ENST00000601675,p.C179W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002pqf.1	nonsynonymous SNV	exon5	c.C537G	p.C179W	FTNRDCDSLKGLCRIMGNGFAGCML	FTNRDCDSLKGLWRIMGNGFAGCML	10.0	5.0	unscreened	-	4240_19:50358313-50358313 C>G_FTNRDCDSLKGLWRIMGNGFAGCML
14:93673709-93673709 G>C	1.0	4240	BREAST	-	-	-	-	UBR7	ENST00000556871,p.E25Q|ENST00000553674,p.E25Q|NM_175748,p.E25Q|ENST00000554232,p.E25Q|ENST00000013070,p.E25Q|uc001ybm.4,p.E25Q	protein_coding, nonsense_mediated_decay	uc001ybm.4	nonsynonymous SNV	exon1	c.G73C	p.E25Q	ELEPVVSLVDVLEEDEELENEACAV	ELEPVVSLVDVLQEDEELENEACAV	9.0	8.0	-	-	4240_14:93673709-93673709 G>C_ELEPVVSLVDVLQEDEELENEACAV
11:18308193-18308193 C>T	1.0	4240	BREAST	-	-	-	-	HPS5	ENST00000438420,p.V814M|ENST00000349215,p.V928M|NM_181508,p.V814M|uc001moe.1,p.V814M|uc001mod.1,p.V928M|NM_007216,p.V814M|ENST00000544218,p.V114M|ENST00000537258,p.V35M|ENST00000396253,p.V814M|NM_181507,p.V928M|uc001mof.1,p.V814M	retained_intron, protein_coding, processed_transcript	uc001mof.1	nonsynonymous SNV	exon18	c.G2440A	p.V814M	PESLRLDWLLLAVSLDAPPSTSTMD	PESLRLDWLLLAMSLDAPPSTSTMD	7.0	9.0	-	-	4240_11:18308193-18308193 C>T_PESLRLDWLLLAMSLDAPPSTSTMD
7:122221294-122221294 T>C	0.0	4240	BREAST	-	-	-	-	CADPS2	ENST00000313070,p.K425R|uc010lkq.3,p.K425R|ENST00000449022,p.K425R|uc022akp.1,p.K425R|uc022akq.1,p.K425R|uc022akr.1,p.K425R|ENST00000334010,p.K425R|ENST00000412584,p.K425R|uc003vkg.4,p.K125R|NM_017954,p.K425R|NM_001009571,p.K425R|NM_001167940,p.K425R	protein_coding, processed_transcript	uc022akr.1	nonsynonymous SNV	exon7	c.A1274G	p.K425R	GDFTTTHPRPVVKVKLFTESTGVLA	GDFTTTHPRPVVRVKLFTESTGVLA	7.0	6.0	unscreened	-	4240_7:122221294-122221294 T>C_GDFTTTHPRPVVRVKLFTESTGVLA
19:50373262-50373262 C>G	1.0	4240	BREAST	-	-	-	-	AKT1S1	NM_001098633,p.R228P|uc002pql.5,p.R248P|ENST00000391832,p.R228P|uc031rmg.1,p.R228P|uc002pqn.5,p.R228P|ENST00000391831,p.R228P|ENST00000344175,p.R228P|uc002pqm.5,p.R228P|ENST00000391835,p.R248P|uc031rmf.1,p.R228P|NM_001278160,p.R228P|NM_032375,p.R248P|ENST00000391834,p.R228P|NM_001278159,p.R228P|ENST00000391833,p.R228P|NM_001098632,p.R228P	protein_coding, processed_transcript	uc031rmg.1	nonsynonymous SNV	exon5	c.G683C	p.R228P	DRIAASMRALVLREAEDTQVFGDLP	DRIAASMRALVLPEAEDTQVFGDLP	10.0	2.0	unscreened	-	4240_19:50373262-50373262 C>G_DRIAASMRALVLPEAEDTQVFGDLP
1:22964239-22964239 C>T	0.0	4240	BREAST	-	-	-	-	C1QA	ENST00000438241,p.R44W|uc001bfy.3,p.R44W|NM_015991,p.R44W|ENST00000374642,p.R44W|ENST00000402322,p.R44W	protein_coding	uc001bfy.3	nonsynonymous SNV	exon2	c.C130T	p.R44W	KKGEAGRPGRRGRPGLKGEQGEPGA	KKGEAGRPGRRGWPGLKGEQGEPGA	9.0	7.0	unscreened	-	4240_1:22964239-22964239 C>T_KKGEAGRPGRRGWPGLKGEQGEPGA
5:13824439-13824439 G>A	0.0	4240	BREAST	-	-	ID=COSM1695438;OCCURENCE=1(skin)	-	DNAH5	ENST00000265104,p.H2150Y|uc003jfd.2,p.H2150Y|NM_001369,p.H2150Y	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon39	c.C6448T	p.H2150Y	YKLCEEQLSKQVHYDFGLRNILSVL	YKLCEEQLSKQVYYDFGLRNILSVL	8.0	2.0	-	-	4240_5:13824439-13824439 G>A_YKLCEEQLSKQVYYDFGLRNILSVL
X:134713802-134713802 G>A	1.0	4240	BREAST	-	-	-	-	DDX26B	uc004eyx.4,p.E301K|NM_182540,p.E700K|uc004eyw.4,p.E700K|ENST00000370752,p.E700K	protein_coding, processed_transcript	uc004eyx.4	nonsynonymous SNV	exon7	c.G901A	p.E301K	TPDGFLSKSAPSELINMTGDLMPPN	TPDGFLSKSAPSKLINMTGDLMPPN	6.0	8.0	-	-	4240_X:134713802-134713802 G>A_TPDGFLSKSAPSKLINMTGDLMPPN
20:3103013-3103013 C>G	1.0	4240	BREAST	-	-	-	-	UBOX5	NM_014948,p.R91T|uc002why.2,p.R91T|ENST00000217173,p.R91T|ENST00000348031,p.R91T|NM_001267584,p.R91T|uc002whx.4,p.R91T|NM_199415,p.R91T|uc002whw.4,p.R91T	protein_coding	uc002why.2	nonsynonymous SNV	exon3	c.G272C	p.R91T	TGLEMYTSASSSRVSWNTPQCRTLG	TGLEMYTSASSSTVSWNTPQCRTLG	7.0	7.0	-	-	4240_20:3103013-3103013 C>G_TGLEMYTSASSSTVSWNTPQCRTLG
8:125577994-125577994 G>C	0.0	4240	BREAST	-	-	-	-	MTSS1	uc011lio.1,p.L135V|uc003yrj.2,p.L245V|NM_014751,p.L245V|uc003yrk.2,p.L245V|ENST00000325064,p.L249V|ENST00000522118,p.L45V|uc003yrl.2,p.L249V|ENST00000378017,p.L245V|NM_001282974,p.L245V|ENST00000354184,p.L45V|ENST00000431961,p.L45V|uc003yri.2,p.L45V|NM_001282971,p.L249V|ENST00000518547,p.L245V|ENST00000524090,p.L135V	retained_intron, protein_coding, processed_transcript	uc011lio.1	nonsynonymous SNV	exon3	c.C403G	p.L135V	PHKLPSSSEQVILDLKGSDYSWSYQ	PHKLPSSSEQVIVDLKGSDYSWSYQ	8.0	1.0	unscreened	-	4240_8:125577994-125577994 G>C_PHKLPSSSEQVIVDLKGSDYSWSYQ
4:79500216-79500216 G>C	1.0	4240	BREAST	-	-	-	-	ANXA3	ENST00000512373,p.E47Q|ENST00000508214,p.E47Q|uc003hld.3,p.E47Q|ENST00000514171,p.E47Q|ENST00000264908,p.E47Q|NM_005139,p.E47Q	retained_intron, protein_coding	uc003hld.3	nonsynonymous SNV	exon4	c.G139C	p.E47Q	GTDEKMLISILTERSNAQRQLIVKE	GTDEKMLISILTQRSNAQRQLIVKE	8.0	9.0	-	-	4240_4:79500216-79500216 G>C_GTDEKMLISILTQRSNAQRQLIVKE
6:152419923-152419923 A>C	0.0	4240	BREAST	-	-	ID=COSM1074639;OCCURENCE=1(endometrium)	1	ESR1	uc010kip.3,p.Y536S|uc010kiq.3,p.Y135S|uc011eex.2,p.Y212S|NM_001122741,p.Y537S|uc003qoo.4,p.Y537S|NM_001122742,p.Y537S|NM_000125,p.Y537S|uc003qon.4,p.Y537S|NM_001291230,p.Y539S|uc021zha.1,p.Y80S|uc003qom.4,p.Y537S|ENST00000338799,p.Y537S|uc011eev.2,p.Y122S|NM_001291241,p.Y536S|uc010kir.3,p.Y276S|ENST00000456483,p.Y425S|ENST00000206249,p.Y537S|uc010kin.3,p.Y537S|NM_001122740,p.Y537S|ENST00000443427,p.Y537S|ENST00000440973,p.Y537S|uc010kio.3,p.Y539S|ENST00000406599,p.Y276S	protein_coding, processed_transcript	uc021zha.1	nonsynonymous SNV	exon3	c.A239C	p.Y80S	LYSMKCKNVVPLYDLLLEMLDAHRL	LYSMKCKNVVPLSDLLLEMLDAHRL	10.0	5.0	-	-	4240_6:152419923-152419923 A>C_LYSMKCKNVVPLSDLLLEMLDAHRL
3:125650537-125650537 C>T	1.0	4240	BREAST	-	-	-	-	ALG1L	uc003eig.2,p.M73I|NM_001195223,p.M93I|uc021xdh.1,p.M93I|NM_001015050,p.M73I|ENST00000340333,p.M73I	protein_coding	uc021xdh.1	nonsynonymous SNV	exon5	c.G279A	p.M93I	CLHMSSSGLDLPMKVVDMFGCCLPV	CLHMSSSGLDLPIKVVDMFGCCLPV	7.0	8.0	unscreened	-	4240_3:125650537-125650537 C>T_CLHMSSSGLDLPIKVVDMFGCCLPV
20:3102383-3102383 C>T	1.0	4240	BREAST	-	-	ID=COSM1240598;OCCURENCE=1(oesophagus)	-	UBOX5	NM_014948,p.R301Q|uc002why.2,p.R301Q|uc002whx.4,p.R301Q|uc002whw.4,p.R301Q|NM_199415,p.R301Q|ENST00000348031,p.R301Q|NM_001267584,p.R301Q|ENST00000217173,p.R301Q	protein_coding	uc002why.2	nonsynonymous SNV	exon3	c.G902A	p.R301Q	LEKCNRSEATWGRVPSDPFTGVAFT	LEKCNRSEATWGQVPSDPFTGVAFT	7.0	7.0	-	-	4240_20:3102383-3102383 C>T_LEKCNRSEATWGQVPSDPFTGVAFT
1:236389732-236389732 G>T	1.0	4240	BREAST	-	-	-	-	ERO1LB	NM_019891,p.P297T|ENST00000354619,p.P297T|uc001hxt.3,p.P297T|ENST00000264181,p.P22T	protein_coding	uc001hxt.3	nonsynonymous SNV	exon12	c.C889A	p.P297T	HRFDPVETKGEGPRRLKNLYFLYLI	HRFDPVETKGEGTRRLKNLYFLYLI	7.0	6.0	-	-	4240_1:236389732-236389732 G>T_HRFDPVETKGEGTRRLKNLYFLYLI
7:23309703-23309703 C>G	0.0	4240	BREAST	-	-	-	-	GPNMB	uc011jyz.2,p.F347L|uc003swb.3,p.F446L|ENST00000539136,p.F347L|ENST00000453162,p.F400L|ENST00000258733,p.F446L|uc011jyy.2,p.F400L|NM_001005340,p.F458L|ENST00000381990,p.F458L|uc003swc.3,p.F458L|NM_002510,p.F446L	retained_intron, protein_coding, processed_transcript	uc011jyz.2	nonsynonymous SNV	exon7	c.C1041G	p.F347L	VDEMCLLTVRRTFNGSGTYCVNLTL	VDEMCLLTVRRTLNGSGTYCVNLTL	9.0	2.0	unscreened	-	4240_7:23309703-23309703 C>G_VDEMCLLTVRRTLNGSGTYCVNLTL
4:151789391-151789391 C>T	0.0	4240	BREAST	-	-	ID=COSM1052024;OCCURENCE=1(endometrium)	-	LRBA	uc003ilu.4,p.R839H|NM_001199282,p.R839H|uc010ipj.3,p.R839H|ENST00000507224,p.R839H|ENST00000357115,p.R839H|ENST00000510413,p.R839H|NM_006726,p.R839H|ENST00000535741,p.R839H	retained_intron, protein_coding, processed_transcript	uc010ipj.3	nonsynonymous SNV	exon21	c.G2516A	p.R839H	RNSPQCPESMEVRRAFLSDMIKLFN	RNSPQCPESMEVHRAFLSDMIKLFN	9.0	5.0	-	-	4240_4:151789391-151789391 C>T_RNSPQCPESMEVHRAFLSDMIKLFN
8:144990989-144990989 C>T	1.0	4240	BREAST	-	-	-	-	PLEC	ENST00000398774,p.D4302N|uc003zaj.2,p.D4361N|uc003zab.1,p.D4334N|ENST00000527096,p.D4357N|uc003zac.1,p.D4338N|uc003zae.1,p.D4302N|uc003zaf.1,p.D4471N|uc003zag.1,p.D4312N|NM_201383,p.D4338N|ENST00000436759,p.D4361N|NM_201381,p.D4302N|ENST00000354589,p.D4334N|ENST00000322810,p.D4471N|ENST00000354958,p.D4312N|uc003zah.2,p.D4320N|NM_201378,p.D4320N|NM_000445,p.D4361N|uc003zad.2,p.D4334N|NM_201382,p.D4334N|NM_201379,p.D4312N|ENST00000356346,p.D4320N|ENST00000357649,p.D4338N|ENST00000345136,p.D4334N|NM_201380,p.D4471N|NM_201384,p.D4334N	retained_intron, protein_coding	uc003zaj.2	nonsynonymous SNV	exon33	c.G13081A	p.D4361N	IDPSTGERFPVTDAVNKGLVDKIMV	IDPSTGERFPVTNAVNKGLVDKIMV	9.0	2.0	unscreened	-	4240_8:144990989-144990989 C>T_IDPSTGERFPVTNAVNKGLVDKIMV
20:33530753-33530753 A>C	1.0	4240	BREAST	-	-	-	-	GSS	uc002xbg.3,p.L111R|ENST00000216951,p.L111R|uc010zup.2,p.L42R|NM_000178,p.L111R	protein_coding	uc010zup.2	nonsynonymous SNV	exon4	c.T125G	p.L42R	FTARLFDIHKQVLKEGIAQTVFLGL	FTARLFDIHKQVRKEGIAQTVFLGL	10.0	2.0	unscreened	-	4240_20:33530753-33530753 A>C_FTARLFDIHKQVRKEGIAQTVFLGL
17:4607307-4607307 G>A	0.0	4240	BREAST	-	-	-	-	PELP1	ENST00000269230,p.R34C|ENST00000575329,p.R34C|NM_014389,p.R84C|ENST00000572293,p.R84C|ENST00000301396,p.R34C|uc002fyi.4,p.R34C|ENST00000574876,p.R34C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002fyi.4	nonsynonymous SNV	exon1	c.C100T	p.R34C	GGLSAVSSGPRLRLLLLESVSGLLQ	GGLSAVSSGPRLCLLLLESVSGLLQ	9.0	3.0	unscreened	-	4240_17:4607307-4607307 G>A_GGLSAVSSGPRLCLLLLESVSGLLQ
20:61512461-61512461 G>C	0.0	4240	BREAST	-	-	-	-	DIDO1	uc002ydr.2,p.S1616C|uc002yds.2,p.S1616C|ENST00000395343,p.S1616C|NM_033081,p.S1616C|NM_001193369,p.S1616C|ENST00000266070,p.S1616C	protein_coding	uc002yds.2	nonsynonymous SNV	exon16	c.C4847G	p.S1616C	APMPVPEEKEPASSPWASGEKPPAG	APMPVPEEKEPACSPWASGEKPPAG	10.0	4.0	-	-	4240_20:61512461-61512461 G>C_APMPVPEEKEPACSPWASGEKPPAG
X:48460536-48460536 G>A	0.0	4240	BREAST	-	-	-	-	WDR13	uc004dkj.2,p.E366K|uc004dkk.2,p.E274K|NM_001166426,p.E274K|uc004dkl.4,p.E274K|ENST00000376729,p.E366K|NM_017883,p.E366K|ENST00000218056,p.E366K	protein_coding, processed_transcript	uc004dkl.4	nonsynonymous SNV	exon6	c.G820A	p.E274K	VTSISARSWVSREARDPSLLINACL	VTSISARSWVSRKARDPSLLINACL	10.0	4.0	unscreened	-	4240_X:48460536-48460536 G>A_VTSISARSWVSRKARDPSLLINACL
19:6694620-6694621 CT>-	0.0	4240	BREAST	-	-	-	-	C3	NM_000064,p.E992fs|ENST00000245907,p.E992fs|uc002mfm.3,p.E992fs	retained_intron, protein_coding, processed_transcript	uc002mfm.3	frameshift deletion	exon24	c.2975_2976del	p.E992fs	ILLQGTPVAQMTEDAVDAERLKHLI	ILLQGTPVAQMTGCRRRGTAEAPHCDPLGLRGTEHDRHDAHGHRCALPG	10.0	6.0	-	-	4240_19:6694620-6694621 CT>-_ILLQGTPVAQMTGCRRRGTAEAPHCDPLGLRGTEHDRHDAHGHRCALPG
4:859015-859015 G>C	1.0	4240	BREAST	-	-	-	-	GAK	NM_001286833,p.P923A|uc003gbn.4,p.P942A|ENST00000314167,p.P1021A|uc003gbl.4,p.P874A|ENST00000511163,p.P942A|NM_005255,p.P1021A|uc003gbm.4,p.P1021A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gbn.4	nonsynonymous SNV	exon20	c.C2824G	p.P942A	ADFLHLGDLPGEPSKMTASSSNPDL	ADFLHLGDLPGEASKMTASSSNPDL	10.0	3.0	unscreened	-	4240_4:859015-859015 G>C_ADFLHLGDLPGEASKMTASSSNPDL
19:55107923-55107923 C>T	0.0	4240	BREAST	-	-	ID=COSM3797517;OCCURENCE=2(urinary_tract)	-	LILRA1	uc002qgh.2,p.H410Y|NM_001278319,p.H410Y|NM_006863,p.H410Y|uc010yfh.2,p.H410Y|ENST00000251372,p.H410Y	retained_intron, protein_coding, processed_transcript	uc010yfh.2	nonsynonymous SNV	exon6	c.C1228T	p.H410Y	YGSLSSNPYLLSHPSDSLELMVSGA	YGSLSSNPYLLSYPSDSLELMVSGA	2.0	10.0	-	-	4240_19:55107923-55107923 C>T_YGSLSSNPYLLSYPSDSLELMVSGA
18:59821839-59821839 C>G	0.0	4240	BREAST	-	-	-	-	PIGN	NM_176787,p.R163T|ENST00000357637,p.R163T|ENST00000585923,p.R163T|ENST00000589098,p.R68T|ENST00000588748,p.R86T|ENST00000591238,p.R86T|ENST00000400334,p.R163T|uc021ulb.1,p.R163T|ENST00000590765,p.R127T|NM_012327,p.R163T|ENST00000589720,p.R163T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ulb.1	nonsynonymous SNV	exon4	c.G488C	p.R163T	GDHVYTYSYDAKREDFGAQDATKLD	GDHVYTYSYDAKTEDFGAQDATKLD	7.0	10.0	-	-	4240_18:59821839-59821839 C>G_GDHVYTYSYDAKTEDFGAQDATKLD
22:21343966-21344002 GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA>-	0.0	4240	BREAST	-	-	-	1	LZTR1	uc011ahy.2,p.197_198del|ENST00000215739,p.216_217del|ENST00000389355,p.197_198del|NM_006767,p.216_217del|uc002zto.3,p.216_217del|uc010gsr.1,p.87_88del|uc002ztn.3,p.175_176del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ahy.2	nonframeshift deletion	exon6	c.589_594del	p.197_198del	TIGLQDRELTCWEEVAQSGEIPPSC	TIGLQDRELTCWVAQSGEIPPSCCN	9.0	4.0	-	-	4240_22:21343966-21344002 GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA>-_TIGLQDRELTCWVAQSGEIPPSCCN
20:60864298-60864298 C>G	1.0	4240	BREAST	-	-	-	-	OSBPL2	NM_144498,p.N387K|ENST00000313733,p.N387K|ENST00000358053,p.N375K|NM_014835,p.N375K|uc002yck.1,p.N387K|uc002ycl.1,p.N375K	protein_coding, processed_transcript	uc002ycl.1	nonsynonymous SNV	exon12	c.C1125G	p.N375K	QMYNFTSFTVSLNELETGMEKTLPP	QMYNFTSFTVSLKELETGMEKTLPP	9.0	2.0	unscreened	-	4240_20:60864298-60864298 C>G_QMYNFTSFTVSLKELETGMEKTLPP
17:41836054-41836054 C>T	0.0	4240	BREAST	0.0005	-	ID=COSM1197764;OCCURENCE=2(lung)	-	SOST	ENST00000301691,p.R19H|NM_025237,p.R19H|uc002iec.1,p.R19H	protein_coding	uc002iec.1	nonsynonymous SNV	exon1	c.G56A	p.R19H	LCLVCLLVHTAFRVVEGQGWQAFKN	LCLVCLLVHTAFHVVEGQGWQAFKN	1.0	7.0	-	-	4240_17:41836054-41836054 C>T_LCLVCLLVHTAFHVVEGQGWQAFKN
2:64800170-64800170 G>A	1.0	4240	BREAST	-	-	-	-	AFTPH	ENST00000422803,p.D788N|uc002sdc.3,p.D788N|uc002scz.3,p.D788N|NM_001002243,p.D788N|uc002sdb.3,p.D788N|uc002sda.3,p.D788N|ENST00000409933,p.D788N|NM_017657,p.D788N|ENST00000409183,p.D419N|ENST00000238855,p.D788N|NM_203437,p.D788N|ENST00000238856,p.D788N	retained_intron, protein_coding, processed_transcript	uc002sdc.3	nonsynonymous SNV	exon5	c.G2362A	p.D788N	IASIGQTATMSPDMNTCTSDQFQES	IASIGQTATMSPNMNTCTSDQFQES	9.0	10.0	-	-	4240_2:64800170-64800170 G>A_IASIGQTATMSPNMNTCTSDQFQES
7:140227225-140227225 G>A	0.0	4240	BREAST	-	-	-	-	DENND2A	ENST00000537639,p.P800S|uc003vvw.3,p.P800S|ENST00000275884,p.P800S|uc010lnj.3,p.P800S|uc010lnk.3,p.P800S|NM_015689,p.P800S|ENST00000496613,p.P800S	protein_coding, nonsense_mediated_decay	uc010lnk.3	nonsynonymous SNV	exon15	c.C2398T	p.P800S	LIYPFAWQHTYIPVLPPAMVDIVCS	LIYPFAWQHTYISVLPPAMVDIVCS	5.0	10.0	-	-	4240_7:140227225-140227225 G>A_LIYPFAWQHTYISVLPPAMVDIVCS
17:65888080-65888080 G>T	1.0	4240	BREAST	-	-	-	-	BPTF	ENST00000306378,p.S662I|uc002jge.3,p.S788I|NM_182641,p.S662I|uc002jgf.3,p.S662I|NM_004459,p.S788I|ENST00000544778,p.S725I|ENST00000321892,p.S788I|ENST00000424123,p.S649I|ENST00000335221,p.S788I|uc010wqm.1,p.S725I	retained_intron, protein_coding, processed_transcript	uc010wqm.1	nonsynonymous SNV	exon6	c.G2174T	p.S725I	IITRLRNPDSKLSQLKSQQVAAAAH	IITRLRNPDSKLIQLKSQQVAAAAH	10.0	4.0	unscreened	-	4240_17:65888080-65888080 G>T_IITRLRNPDSKLIQLKSQQVAAAAH
1:2440458-2440458 C>T	1.0	4240	BREAST	-	-	-	-	PANK4	ENST00000435556,p.G678D|uc010nza.1,p.G678D|ENST00000378466,p.G717D|uc001ajm.1,p.G717D|NM_018216,p.G717D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010nza.1	nonsynonymous SNV	exon19	c.G2033A	p.G678D	LDKGLAALVRERGADLVVIEGMGRA	LDKGLAALVRERDADLVVIEGMGRA	7.0	5.0	unscreened	-	4240_1:2440458-2440458 C>T_LDKGLAALVRERDADLVVIEGMGRA
20:35125136-35125136 G>C	1.0	4240	BREAST	-	-	-	-	DLGAP4	ENST00000340491,p.K20N|uc002xfh.3,p.K20N|NM_183006,p.K20N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002xfh.3	nonsynonymous SNV	exon2	c.G60C	p.K20N	LKQCSSCLVAYKKTPPPVPPRTTSK	LKQCSSCLVAYKNTPPPVPPRTTSK	10.0	1.0	unscreened	-	4240_20:35125136-35125136 G>C_LKQCSSCLVAYKNTPPPVPPRTTSK
20:35125136-35125136 G>C	1.0	4240	BREAST	-	-	-	-	DLGAP4	ENST00000339266,p.K559N|ENST00000373907,p.K559N|NM_014902,p.K559N|ENST00000401952,p.K559N|uc010zvp.2,p.K559N|ENST00000373913,p.K559N|uc002xff.3,p.K559N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zvp.2	nonsynonymous SNV	exon7	c.G1677C	p.K559N	TLPSSSCLVAYKKTPPPVPPRTTSK	TLPSSSCLVAYKNTPPPVPPRTTSK	10.0	1.0	unscreened	-	4240_20:35125136-35125136 G>C_TLPSSSCLVAYKNTPPPVPPRTTSK
14:96987401-96987401 G>A	1.0	4240	BREAST	-	-	-	-	PAPOLA	uc001yfp.3,p.E81K|uc001yfo.3,p.E81K|ENST00000556619,p.E95K|NM_001293627,p.E81K|NM_032632,p.E81K|NM_001252006,p.E81K|ENST00000557320,p.E81K|uc001yfq.3,p.E81K|NM_001252007,p.E81K|uc001yfr.3,p.E81K|ENST00000216277,p.E81K|ENST00000553689,p.E81K|ENST00000557471,p.E81K|uc010twv.2,p.E81K|ENST00000392990,p.E81K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010twv.2	nonsynonymous SNV	exon3	c.G241A	p.E81K	NNLVKEWIREISESKNLPQSVIENV	NNLVKEWIREISKSKNLPQSVIENV	10.0	3.0	unscreened	-	4240_14:96987401-96987401 G>A_NNLVKEWIREISKSKNLPQSVIENV
5:140590706-140590706 G>A	1.0	4240	BREAST	-	-	-	-	PCDHB12	uc003liz.3,p.G743R|ENST00000541609,p.G406R|NM_018932,p.G743R|uc011dak.2,p.G406R|ENST00000239450,p.G743R	protein_coding	uc011dak.2	nonsynonymous SNV	exon2	c.G1216A	p.G406R	PFPGHLVDVSGTGTLSQSYHYEVCV	PFPGHLVDVSGTRTLSQSYHYEVCV	5.0	7.0	-	-	4240_5:140590706-140590706 G>A_PFPGHLVDVSGTRTLSQSYHYEVCV
1:201779842-201779842 G>A	1.0	4240	BREAST	-	-	-	-	NAV1	uc001gwu.3,p.E1582K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001gwu.3	nonsynonymous SNV	exon23	c.G4744A	p.E1582K	RLAEYLVERSGREVTEGIVSTFNMH	RLAEYLVERSGRKVTEGIVSTFNMH	7.0	6.0	-	-	4240_1:201779842-201779842 G>A_RLAEYLVERSGRKVTEGIVSTFNMH
20:40117133-40117133 C>G	1.0	4240	BREAST	-	-	-	-	CHD6	ENST00000373233,p.D598H|uc002xka.1,p.D598H|uc002xkd.2,p.D576H|NM_032221,p.D598H	protein_coding, processed_transcript	uc002xkd.2	nonsynonymous SNV	exon12	c.G1726C	p.D576H	ELKKIHWSCVIIDEAHRLKNRNCKL	ELKKIHWSCVIIHEAHRLKNRNCKL	10.0	9.0	-	-	4240_20:40117133-40117133 C>G_ELKKIHWSCVIIHEAHRLKNRNCKL
7:101006396-101006396 C>T	0.0	4240	BREAST	-	-	-	-	COL26A1	ENST00000313669,p.S28L|uc003uyo.1,p.S28L	retained_intron, protein_coding, polymorphic_pseudogene	uc003uyo.1	nonsynonymous SNV	exon1	c.C83T	p.S28L	GSALATGFLYPFSAAALQQHGYPEP	GSALATGFLYPFLAAALQQHGYPEP	2.0	8.0	-	-	4240_7:101006396-101006396 C>T_GSALATGFLYPFLAAALQQHGYPEP
14:21780019-21780019 C>G	0.0	4240	BREAST	-	-	-	-	RPGRIP1	uc001wag.3,p.L323V|ENST00000400017,p.L323V|ENST00000556336,p.L296V|ENST00000206660,p.L323V|ENST00000557771,p.L296V|NM_020366,p.L323V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wag.3	nonsynonymous SNV	exon8	c.C967G	p.L323V	NQGILSAAHEALLKQVNELRAELKE	NQGILSAAHEALVKQVNELRAELKE	6.0	6.0	unscreened	-	4240_14:21780019-21780019 C>G_NQGILSAAHEALVKQVNELRAELKE
12:29604430-29604430 C>G	0.0	4240	BREAST	-	-	-	-	OVCH1	uc001rix.1,p.R868T|ENST00000318184,p.R868T|NM_183378,p.R868T	protein_coding, nonsense_mediated_decay	uc001rix.1	nonsynonymous SNV	exon22	c.G2603C	p.R868T	GFFPTPRYLLDYRGRLECSWVLRVS	GFFPTPRYLLDYTGRLECSWVLRVS	1.0	6.0	unscreened	-	4240_12:29604430-29604430 C>G_GFFPTPRYLLDYTGRLECSWVLRVS
6:32010487-32010487 G>C	0.0	4240	BREAST	-	-	-	-	TNXB	NM_032470,p.S445C|uc003nzg.1,p.S445C|uc003nzl.2,p.S4014C|NM_019105,p.S4014C|ENST00000375247,p.S4014C|ENST00000451343,p.S445C|ENST00000375244,p.S4016C|uc003nzh.1,p.S483C	retained_intron, protein_coding	uc003nzl.2	nonsynonymous SNV	exon39	c.C12041G	p.S4014C	MWGQSLLPPVSTSFTTGGLRIPFPR	MWGQSLLPPVSTCFTTGGLRIPFPR	6.0	6.0	unscreened	-	4240_6:32010487-32010487 G>C_MWGQSLLPPVSTCFTTGGLRIPFPR
14:103593551-103593551 G>A	1.0	4240	BREAST	-	-	-	-	TNFAIP2	ENST00000333007,p.E149K|NM_006291,p.E149K|ENST00000560869,p.E149K|uc001ymm.1,p.E149K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ymm.1	nonsynonymous SNV	exon2	c.G445A	p.E149K	LGVLRRPLEAPPERLRQALAVVAEQ	LGVLRRPLEAPPKRLRQALAVVAEQ	9.0	7.0	-	-	4240_14:103593551-103593551 G>A_LGVLRRPLEAPPKRLRQALAVVAEQ
10:123681877-123681877 G>C	0.0	4240	BREAST	-	-	-	-	ATE1	NM_001288736,p.Q67E|ENST00000369043,p.Q74E|ENST00000540606,p.Q67E|NM_007041,p.Q74E|uc010qtt.2,p.Q67E|NM_001001976,p.Q74E|uc001lfq.3,p.Q74E|ENST00000455628,p.Q67E|uc001lfp.3,p.Q74E|ENST00000224652,p.Q74E	protein_coding, processed_transcript	uc010qtt.2	nonsynonymous SNV	exon3	c.C199G	p.Q67E	VYKPVMNQTCCPQYTIRCRPLQFQP	VYKPVMNQTCCPEYTIRCRPLQFQP	6.0	3.0	unscreened	-	4240_10:123681877-123681877 G>C_VYKPVMNQTCCPEYTIRCRPLQFQP
21:22804479-22804479 C>T	0.0	4240	BREAST	-	-	-	-	NCAM2	uc002yld.2,p.T511M|ENST00000400546,p.T511M|NM_004540,p.T511M|uc011acb.2,p.T369M|ENST00000284894,p.T369M	protein_coding, processed_transcript	uc011acb.2	nonsynonymous SNV	exon9	c.C1106T	p.T369M	PYGVKIIELSQTTAKVSFNKPDSHG	PYGVKIIELSQTMAKVSFNKPDSHG	6.0	2.0	unscreened	-	4240_21:22804479-22804479 C>T_PYGVKIIELSQTMAKVSFNKPDSHG
X:23740796-23740796 C>T	0.0	4240	BREAST	-	-	-	-	ACOT9	uc004dao.3,p.D159N|NM_001033583,p.D150N|ENST00000336430,p.D150N|ENST00000379303,p.D159N|uc004dat.1,p.D150N|uc004dar.3,p.D90N|uc004dap.3,p.D150N|ENST00000379295,p.D90N|ENST00000492081,p.D90N|NM_001037171,p.D159N	retained_intron, protein_coding, nonsense_mediated_decay	uc004dat.1	nonsynonymous SNV	exon6	c.G448A	p.D150N	KMSPLSIVTALVDKIDMCKKSLSPE	KMSPLSIVTALVNKIDMCKKSLSPE	8.0	9.0	-	-	4240_X:23740796-23740796 C>T_KMSPLSIVTALVNKIDMCKKSLSPE
19:46289292-46289292 G>A	1.0	4240	BREAST	-	-	-	-	DMWD	NM_004943,p.R488C|uc002pdj.1,p.R488C|ENST00000270223,p.R488C|uc010eko.1,p.R173C|ENST00000377735,p.R488C	retained_intron, protein_coding, processed_transcript	uc010eko.1	nonsynonymous SNV	exon1	c.C517T	p.R173C	SRGGEPGPGPLPRSLSRSNSLPHPA	SRGGEPGPGPLPCSLSRSNSLPHPA	8.0	7.0	-	-	4240_19:46289292-46289292 G>A_SRGGEPGPGPLPCSLSRSNSLPHPA
12:116434861-116434861 A>C	1.0	4240	BREAST	-	-	-	-	MED13L	uc001tvw.3,p.M915R|ENST00000281928,p.M915R|NM_015335,p.M915R	retained_intron, protein_coding, processed_transcript	uc001tvw.3	nonsynonymous SNV	exon15	c.T2744G	p.M915R	VSMVSTQLTEFKMEVEDGLGSPKPE	VSMVSTQLTEFKREVEDGLGSPKPE	9.0	7.0	-	-	4240_12:116434861-116434861 A>C_VSMVSTQLTEFKREVEDGLGSPKPE
X:12632944-12632944 G>C	0.0	4240	BREAST	-	-	-	-	FRMPD4	NM_014728,p.M122I|uc011mij.2,p.M114I|ENST00000380682,p.M122I|uc004cuz.2,p.M122I	protein_coding	uc011mij.2	nonsynonymous SNV	exon5	c.G342C	p.M114I	SEGKLIPGDQIVMINDEPVSAAPRE	SEGKLIPGDQIVIINDEPVSAAPRE	1.0	4.0	unscreened	-	4240_X:12632944-12632944 G>C_SEGKLIPGDQIVIINDEPVSAAPRE
19:3637436-3637436 G>A	0.0	4240	BREAST	-	-	-	-	PIP5K1C	ENST00000589578,p.S699L|NM_001300849,p.S699L|uc010xhr.2,p.S699L	protein_coding, processed_transcript	uc010xhr.2	nonsynonymous SNV	exon17	c.C2096T	p.S699L	AAGPRPEAQCLTSVVFQKGFG	AAGPRPEAQCLTLVVFQKGFG	8.0	10.0	-	-	4240_19:3637436-3637436 G>A_AAGPRPEAQCLTLVVFQKGFG
17:54431369-54431369 G>T	0.0	4240	BREAST	-	-	-	-	ANKFN1	ENST00000566473,p.R191M|NM_153228,p.R191M|uc002iun.1,p.R191M|ENST00000318698,p.R191M	retained_intron, protein_coding, processed_transcript	uc002iun.1	nonsynonymous SNV	exon5	c.G572T	p.R191M	DIAIMTNNVPIARILLRTGARESPH	DIAIMTNNVPIAMILLRTGARESPH	3.0	8.0	-	-	4240_17:54431369-54431369 G>T_DIAIMTNNVPIAMILLRTGARESPH
21:36042463-36042492 GCGTAGAAGCGGGGGTCCCGGCGGGGGACA>-	0.0	4240	BREAST	-	-	-	-	CLIC6	ENST00000349499,p.259_269del|ENST00000360731,p.259_269del|uc002yuf.1,p.259_269del|NM_053277,p.259_269del|uc010gmt.1,p.259_269del	protein_coding	uc010gmt.1	nonframeshift deletion	exon1	c.776_805del	p.259_269del	GDSVEAGDPAGDGVEAGVPAGDSVE	GDSVEAGDPAGDGVEAEGPAGDSMD	8.0	6.0	unscreened	-	4240_21:36042463-36042492 GCGTAGAAGCGGGGGTCCCGGCGGGGGACA>-_GDSVEAGDPAGDGVEAEGPAGDSMD
9:37801045-37801045 C>T	1.0	4240	BREAST	-	-	-	-	DCAF10	uc004aao.3,p.S61L|ENST00000242323,p.S61L|NM_024345,p.S61L|ENST00000377724,p.S61L	protein_coding, processed_transcript	uc004aao.3	nonsynonymous SNV	exon1	c.C182T	p.S61L	PPARSPRRPGAPSLSPAPRSGELGL	PPARSPRRPGAPLLSPAPRSGELGL	9.0	9.0	-	-	4240_9:37801045-37801045 C>T_PPARSPRRPGAPLLSPAPRSGELGL
16:80642126-80642126 C>T	0.0	4240	BREAST	-	-	-	-	CDYL2	uc002ffs.3,p.E409K|NM_152342,p.E409K|ENST00000566173,p.E410K|ENST00000562812,p.E410K|ENST00000299564,p.E409K|ENST00000563890,p.E410K	protein_coding, processed_transcript	uc002ffs.3	nonsynonymous SNV	exon6	c.G1225A	p.E409K	TFPQILGVALANEMLFCGRKLTAQE	TFPQILGVALANKMLFCGRKLTAQE	6.0	8.0	-	-	4240_16:80642126-80642126 C>T_TFPQILGVALANKMLFCGRKLTAQE
6:31624294-31624294 G>C	1.0	4240	BREAST	-	-	-	-	APOM	NM_019101,p.A54P|ENST00000375916,p.A54P|uc003nvl.3,p.A54P	protein_coding	uc003nvl.3	nonsynonymous SNV	exon2	c.G160C	p.A54P	VHLGQWYFIAGAAPTKEELATFDPV	VHLGQWYFIAGAPPTKEELATFDPV	8.0	9.0	-	-	4240_6:31624294-31624294 G>C_VHLGQWYFIAGAPPTKEELATFDPV
9:134406020-134406020 C>G	1.0	4240	BREAST	-	-	-	-	UCK1	uc031tfj.1,p.E46Q|NM_001261451,p.E46Q|ENST00000491309,p.E55Q|ENST00000372211,p.E46Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc031tfj.1	nonsynonymous SNV	exon2	c.G136C	p.E46Q	GIPLLCLQSTVCEKIMELLGQNEVE	GIPLLCLQSTVCQKIMELLGQNEVE	8.0	2.0	unscreened	-	4240_9:134406020-134406020 C>G_GIPLLCLQSTVCQKIMELLGQNEVE
5:158636883-158636883 T>A	0.0	4240	BREAST	-	-	-	-	RNF145	NM_001199380,p.N10I|uc010jiq.2,p.N10I|ENST00000518802,p.N10I	retained_intron, protein_coding, processed_transcript	uc010jiq.2	nonsynonymous SNV	exon1	c.A29T	p.N10I	MHRDRISPSNSPTWSLQVFSKK	MHRDRISPSISPTWSLQVFSKK	7.0	4.0	unscreened	-	4240_5:158636883-158636883 T>A_MHRDRISPSISPTWSLQVFSKK
6:127608720-127608720 C>T	1.0	4240	BREAST	-	-	-	-	RNF146	ENST00000309649,p.T320I|uc021zeu.1,p.T320I|ENST00000368314,p.T321I|NM_030963,p.T320I|NM_001242844,p.T320I|uc003qau.3,p.T320I|uc021zev.1,p.T320I|NM_001242850,p.T321I|NM_001242849,p.T321I|NM_001242845,p.T320I|uc021zex.1,p.T320I|NM_001242852,p.T320I|uc003qav.3,p.T321I|uc021zes.1,p.T321I|NM_001242851,p.T321I|uc021zet.1,p.T320I|uc021zew.1,p.T321I|uc021zey.1,p.T320I|uc003qat.3,p.T320I|uc003qaw.3,p.T320I|NM_001242846,p.T320I|ENST00000356799,p.T320I	protein_coding, processed_transcript	uc021zey.1	nonsynonymous SNV	exon1	c.C959T	p.T320I	TQQRLLVSNANQTVPDRSDRSGTDR	TQQRLLVSNANQIVPDRSDRSGTDR	1.0	7.0	unscreened	-	4240_6:127608720-127608720 C>T_TQQRLLVSNANQIVPDRSDRSGTDR
3:47163854-47163854 C>G	0.0	4240	BREAST	-	-	-	1	SETD2	NM_014159,p.D758H|ENST00000409792,p.D758H|uc003cqv.3,p.D747H|ENST00000412450,p.D714H|uc003cqs.3,p.D758H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003cqv.3	nonsynonymous SNV	exon3	c.G2239C	p.D747H	FRETEPLVSPHQDKLMSMPVMTVDY	FRETEPLVSPHQHKLMSMPVMTVDY	8.0	6.0	unscreened	-	4240_3:47163854-47163854 C>G_FRETEPLVSPHQHKLMSMPVMTVDY
19:9067641-9067641 G>A	0.0	4240	BREAST	-	-	-	2	MUC16	ENST00000397910,p.S6602F|NM_024690,p.S6602F|uc002mkp.3,p.S6602F	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C19805T	p.S6602F	TNIAVTNVGTTTSEKESYSSVPAYS	TNIAVTNVGTTTFEKESYSSVPAYS	3.0	8.0	-	-	4240_19:9067641-9067641 G>A_TNIAVTNVGTTTFEKESYSSVPAYS
19:39214845-39214845 G>A	1.0	4240	BREAST	-	-	-	-	ACTN4	NM_004924,p.D581N|uc002oja.2,p.D581N|ENST00000440400,p.D17N|uc021uug.1,p.D362N|ENST00000424234,p.D191N|ENST00000252699,p.D581N|ENST00000390009,p.D362N	retained_intron, protein_coding, processed_transcript	uc021uug.1	nonsynonymous SNV	exon8	c.G1084A	p.D362N	AHDQFKSTLPDADREREAILAIHKE	AHDQFKSTLPDANREREAILAIHKE	10.0	5.0	-	-	4240_19:39214845-39214845 G>A_AHDQFKSTLPDANREREAILAIHKE
13:39611361-39611361 C>G	0.0	4240	BREAST	-	-	-	-	PROSER1	ENST00000352251,p.E7Q|NM_025138,p.E7Q|uc001uwy.4,p.E7Q	protein_coding, processed_transcript	uc001uwy.4	nonsynonymous SNV	exon1	c.G19C	p.E7Q	MDKKSFEMVLDEIRKAVLT	MDKKSFQMVLDEIRKAVLT	8.0	6.0	unscreened	-	4240_13:39611361-39611361 C>G_MDKKSFQMVLDEIRKAVLT
1:10714100-10714109 GGATGCAGTG>-	1.0	4240	BREAST	-	-	-	-	CASZ1	uc009vmx.2,p.H693fs|uc001arp.2,p.H669fs|ENST00000377022,p.H669fs|ENST00000344008,p.H669fs|NM_017766,p.H669fs|uc001aro.4,p.H669fs|NM_001079843,p.H669fs	retained_intron, protein_coding, processed_transcript	uc009vmx.2	frameshift deletion	exon9	c.2077_2086del	p.H693fs	EGCVYSKATNHFHCIRAGCGFTFTS	EGCVYSKATNHFAPAAASPSPPPAR	10.0	7.0	unscreened	-	4240_1:10714100-10714109 GGATGCAGTG>-_EGCVYSKATNHFAPAAASPSPPPAR
2:233321069-233321069 G>C	0.0	4240	BREAST	-	-	ID=COSM309062;OCCURENCE=1(lung)	-	ALPI	ENST00000295463,p.E26D|NM_001631,p.E26D|uc002vst.4,p.E26D	protein_coding, nonsense_mediated_decay	uc002vst.4	nonsynonymous SNV	exon2	c.G78C	p.E26D	LQLSLGVIPAEEENPAFWNRQAAEA	LQLSLGVIPAEEDNPAFWNRQAAEA	1.0	8.0	-	-	4240_2:233321069-233321069 G>C_LQLSLGVIPAEEDNPAFWNRQAAEA
9:134406020-134406020 C>G	1.0	4240	BREAST	-	-	-	-	UCK1	NM_001135954,p.E41Q|uc004cba.3,p.E41Q|ENST00000372215,p.E41Q|NM_031432,p.E41Q|ENST00000372208,p.E41Q|uc004cay.3,p.E41Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc004cba.3	nonsynonymous SNV	exon2	c.G121C	p.E41Q	SGGTASGKSTVCEKIMELLGQNEVE	SGGTASGKSTVCQKIMELLGQNEVE	8.0	2.0	unscreened	-	4240_9:134406020-134406020 C>G_SGGTASGKSTVCQKIMELLGQNEVE
7:18687612-18687612 C>T	0.0	4240	BREAST	-	-	-	-	HDAC9	uc011jye.2,p.L383F|uc003suh.3,p.L411F|uc003sue.3,p.L411F|ENST00000432645,p.L411F|NM_001204145,p.L367F|ENST00000428307,p.L367F|NM_178425,p.L414F|uc010kud.2,p.L414F|NM_001204148,p.L383F|NM_001204144,p.L409F|uc003sud.2,p.L411F|NM_001204147,p.L334F|uc011jyb.2,p.L367F|ENST00000524023,p.L334F|ENST00000406072,p.L398F|uc010kue.1,p.L154F|uc003sua.1,p.L389F|NM_058176,p.L411F|uc011jyd.2,p.L411F|uc011jyc.2,p.L370F|uc003suf.2,p.L442F|ENST00000441542,p.L414F|ENST00000401921,p.L370F|NM_014707,p.L411F|ENST00000417496,p.L409F|uc003suj.3,p.L370F|NM_001204146,p.L370F|uc011jya.2,p.L409F|NM_178423,p.L411F|ENST00000405010,p.L411F|ENST00000456174,p.L383F|uc003sui.3,p.L414F|ENST00000406451,p.L411F|uc011jyf.2,p.L334F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011jyf.2	nonsynonymous SNV	exon8	c.C1000T	p.L334F	LLLKEQMRQQKLLVAGGVPLHPQSP	LLLKEQMRQQKLFVAGGVPLHPQSP	4.0	10.0	-	-	4240_7:18687612-18687612 C>T_LLLKEQMRQQKLFVAGGVPLHPQSP
22:18301247-18301247 G>C	0.0	4240	BREAST	-	-	-	-	MICAL3	uc011agl.2,p.P1310A|ENST00000441493,p.P1394A|uc002zng.4,p.P1394A|NM_015241,p.P1394A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011agl.2	nonsynonymous SNV	exon23	c.C3928G	p.P1310A	PLSIPKRLGLPKPEGEPLSLPTPRS	PLSIPKRLGLPKAEGEPLSLPTPRS	6.0	5.0	unscreened	-	4240_22:18301247-18301247 G>C_PLSIPKRLGLPKAEGEPLSLPTPRS
11:69063426-69063426 G>C	0.0	4240	BREAST	-	-	-	-	MYEOV	ENST00000441339,p.R170T|NM_001300923,p.R112T|ENST00000535407,p.R112T|uc009ysl.3,p.R170T|NM_001300924,p.R112T|NM_001293296,p.R112T|uc001oov.3,p.R170T|NM_001293294,p.R112T|NM_001293291,p.R170T|ENST00000308946,p.R170T|uc001oow.3,p.R112T|NM_138768,p.R170T	retained_intron, protein_coding, processed_transcript	uc009ysl.3	nonsynonymous SNV	exon3	c.G509C	p.R170T	RVVGVAHLGEAFRVGVEQAISSCPE	RVVGVAHLGEAFTVGVEQAISSCPE	2.0	1.0	unscreened	-	4240_11:69063426-69063426 G>C_RVVGVAHLGEAFTVGVEQAISSCPE
7:99751562-99751562 G>C	1.0	4240	BREAST	-	-	-	-	LAMTOR4	ENST00000341942,p.R92P|uc003utq.2,p.R92P|NM_001008395,p.R92P	retained_intron, protein_coding, processed_transcript	uc003utq.2	nonsynonymous SNV	exon4	c.G275C	p.R92P	SGQRVFVVKRQNRGREPIDV	SGQRVFVVKRQNPGREPIDV	10.0	9.0	-	-	4240_7:99751562-99751562 G>C_SGQRVFVVKRQNPGREPIDV
8:143957662-143957662 C>G	0.0	4240	BREAST	-	-	ID=COSM1552056;OCCURENCE=1(lung)	-	CYP11B1	uc010mey.3,p.D388H|uc003yxi.3,p.D317H|ENST00000517471,p.D317H|ENST00000377675,p.D388H|ENST00000292427,p.D317H|uc003yxj.3,p.D317H|NM_001026213,p.D317H|NM_000497,p.D317H	retained_intron, protein_coding	uc010mey.3	nonsynonymous SNV	exon7	c.G1162C	p.D388H	KANSMELTAGSVDTTVFPLLMTLFE	KANSMELTAGSVHTTVFPLLMTLFE	1.0	10.0	-	-	4240_8:143957662-143957662 C>G_KANSMELTAGSVHTTVFPLLMTLFE
1:31538616-31538616 G>C	0.0	4240	BREAST	-	-	-	-	PUM1	uc001bsk.1,p.P6R|uc010ogb.1,p.P6R|ENST00000373742,p.P6R|ENST00000373741,p.P6R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ogb.1	nonsynonymous SNV	exon1	c.C17G	p.P6R	MPLPPPGPGPEPIPGCTA	MPLPPRGPGPEPIPGCTA	9.0	9.0	-	-	4240_1:31538616-31538616 G>C_MPLPPRGPGPEPIPGCTA
5:174940467-174940467 G>A	1.0	4240	BREAST	-	-	-	-	SFXN1	ENST00000321442,p.E200K|NM_022754,p.E200K|uc003mdb.1,p.E139K|uc003mda.2,p.E200K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003mdb.1	nonsynonymous SNV	exon7	c.G415A	p.E139K	ANCINIPLMRQRELKVGIPVTDENG	ANCINIPLMRQRKLKVGIPVTDENG	8.0	2.0	unscreened	-	4240_5:174940467-174940467 G>A_ANCINIPLMRQRKLKVGIPVTDENG
12:15733724-15733724 C>G	0.0	4240	BREAST	-	-	-	-	PTPRO	NM_002848,p.Q1003E|ENST00000542557,p.Q192E|ENST00000281171,p.Q1031E|uc001rcx.2,p.Q220E|NM_030668,p.Q192E|NM_030669,p.Q220E|ENST00000348962,p.Q1003E|uc001rcy.2,p.Q220E|uc001rcw.2,p.Q1003E|uc001rcv.2,p.Q1031E|NM_030667,p.Q1031E|ENST00000442921,p.Q220E|ENST00000445537,p.Q220E|ENST00000544244,p.Q192E|uc001rda.2,p.Q192E|NM_030671,p.Q220E|uc001rcz.2,p.Q192E|NM_030670,p.Q192E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rda.2	nonsynonymous SNV	exon9	c.C574G	p.Q192E	NDFWKMVLQQKSQIIVMLTQCNEKR	NDFWKMVLQQKSEIIVMLTQCNEKR	5.0	7.0	-	-	4240_12:15733724-15733724 C>G_NDFWKMVLQQKSEIIVMLTQCNEKR
10:93786362-93786362 C>A	1.0	4240	BREAST	-	-	-	-	BTAF1	ENST00000265990,p.P1697T|ENST00000544642,p.P525T|NM_003972,p.P1697T|uc001khr.3,p.P1697T	protein_coding, processed_transcript	uc001khr.3	nonsynonymous SNV	exon36	c.C5089A	p.P1697T	QRHSIVSRFNNDPSIDVLLLTTHVG	QRHSIVSRFNNDTSIDVLLLTTHVG	6.0	3.0	unscreened	-	4240_10:93786362-93786362 C>A_QRHSIVSRFNNDTSIDVLLLTTHVG
11:59282645-59282645 C>T	0.0	4240	BREAST	-	-	-	-	OR4D9	uc010rkv.2,p.S87L|NM_001004711,p.S87L|ENST00000329328,p.S87L	protein_coding	uc010rkv.2	nonsynonymous SNV	exon1	c.C260T	p.S87L	SITAPKVLIDLLSETKTISFSGCVT	SITAPKVLIDLLLETKTISFSGCVT	1.0	7.0	unscreened	-	4240_11:59282645-59282645 C>T_SITAPKVLIDLLLETKTISFSGCVT
9:69391124-69391124 C>T	0.0	4240	BREAST	-	-	-	-	ANKRD20A4	uc004afn.3,p.S211L|NM_001098805,p.S211L|ENST00000357336,p.S211L	retained_intron, protein_coding	uc004afn.3	nonsynonymous SNV	exon5	c.C632T	p.S211L	RRSALMLAVYYDSPGIVNILLKQNI	RRSALMLAVYYDLPGIVNILLKQNI	3.0	5.0	-	-	4240_9:69391124-69391124 C>T_RRSALMLAVYYDLPGIVNILLKQNI
12:64377765-64377765 G>A	1.0	4240	BREAST	-	-	-	-	SRGAP1	ENST00000357825,p.E36K|ENST00000355086,p.E36K|uc010ssp.1,p.E36K|uc001srt.3,p.E36K|NM_020762,p.E36K	retained_intron, protein_coding	uc010ssp.1	nonsynonymous SNV	exon2	c.G106A	p.E36K	IRAQLVEQQKCLEQQTEMRVQLLQD	IRAQLVEQQKCLKQQTEMRVQLLQD	8.0	7.0	-	-	4240_12:64377765-64377765 G>A_IRAQLVEQQKCLKQQTEMRVQLLQD
16:57508715-57508715 C>T	0.0	4240	BREAST	-	-	-	-	DOK4	ENST00000566936,p.E197K|uc010cdb.3,p.E197K|ENST00000569010,p.E197K|ENST00000569548,p.E197K|ENST00000340099,p.E197K|NM_018110,p.E197K|uc002elv.4,p.E197K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cdb.3	nonsynonymous SNV	exon5	c.G589A	p.E197K	RRYGRDATRFTFEAGRMCDAGEGLY	RRYGRDATRFTFKAGRMCDAGEGLY	7.0	7.0	unscreened	-	4240_16:57508715-57508715 C>T_RRYGRDATRFTFKAGRMCDAGEGLY
8:22548925-22548925 C>A	0.0	4240	BREAST	-	-	-	-	EGR3	uc003xcm.1,p.Q75H|NM_004430,p.Q75H|uc011kzn.1,p.Q37H|uc011kzo.2,p.Q21H|ENST00000317216,p.Q75H|NM_001199881,p.Q21H|NM_001199880,p.Q37H|ENST00000522910,p.Q37H	protein_coding, processed_transcript	uc011kzo.2	nonsynonymous SNV	exon2	c.G63T	p.Q21H	KPNPELSYSGSFQPAPGNKTVTYLG	KPNPELSYSGSFHPAPGNKTVTYLG	6.0	4.0	unscreened	-	4240_8:22548925-22548925 C>A_KPNPELSYSGSFHPAPGNKTVTYLG
X:69646531-69646531 G>A	0.0	4240	BREAST	-	-	-	-	GDPD2	ENST00000536730,p.A87T|ENST00000374382,p.A166T|uc004dyh.3,p.A166T|NM_001171191,p.A87T|NM_017711,p.A166T|ENST00000453994,p.A166T|NM_001171192,p.A166T|uc011mpm.2,p.A87T|NM_001171193,p.A87T|uc011mpk.2,p.A166T|ENST00000538649,p.A87T|uc010nkx.2,p.A166T|uc011mpl.2,p.A87T	protein_coding, processed_transcript	uc011mpm.2	nonsynonymous SNV	exon5	c.G259A	p.A87T	QATAPFLHIGAAAGIALLAWPVADT	QATAPFLHIGAATGIALLAWPVADT	2.0	5.0	unscreened	-	4240_X:69646531-69646531 G>A_QATAPFLHIGAATGIALLAWPVADT
4:8271972-8271972 G>C	0.0	4240	BREAST	-	-	-	-	HTRA3	NM_053044,p.D93H|uc003gla.3,p.D93H|NM_001297559,p.D93H|ENST00000307358,p.D93H|ENST00000382512,p.D93H|uc003gkz.3,p.D93H	protein_coding	uc003gla.3	nonsynonymous SNV	exon1	c.G277C	p.D93H	CRCRWSHAVCGTDGHTYANVCALQA	CRCRWSHAVCGTHGHTYANVCALQA	7.0	4.0	unscreened	-	4240_4:8271972-8271972 G>C_CRCRWSHAVCGTHGHTYANVCALQA
19:54401215-54401215 G>A	0.0	4240	BREAST	-	-	-	-	PRKCG	uc010yef.1,p.G285E|ENST00000536044,p.G285E	protein_coding	uc010yef.1	nonsynonymous SNV	exon9	c.G854A	p.G285E	GWLVTTPWNCMSGCGWAPLPLPSPP	GWLVTTPWNCMSECGWAPLPLPSPP	1.0	10.0	-	-	4240_19:54401215-54401215 G>A_GWLVTTPWNCMSECGWAPLPLPSPP
X:72434217-72434217 C>T	0.0	4240	BREAST	-	-	-	-	NAP1L2	uc004ebi.3,p.A38T|ENST00000373517,p.A38T|NM_021963,p.A38T	protein_coding	uc004ebi.3	nonsynonymous SNV	exon1	c.G112A	p.A38T	GLGEHLERGEDAAAGLGDDGKCGEE	GLGEHLERGEDATAGLGDDGKCGEE	3.0	10.0	-	-	4240_X:72434217-72434217 C>T_GLGEHLERGEDATAGLGDDGKCGEE
10:64979692-64979692 C>T	0.0	4240	BREAST	-	-	-	-	JMJD1C	NM_032776,p.E167K|ENST00000399262,p.E167K|uc001jmn.3,p.E167K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001jmn.3	nonsynonymous SNV	exon4	c.G499A	p.E167K	LNPVLRDNPQLHEEVKVWVKEQKVQ	LNPVLRDNPQLHKEVKVWVKEQKVQ	9.0	8.0	-	-	4240_10:64979692-64979692 C>T_LNPVLRDNPQLHKEVKVWVKEQKVQ
14:100758924-100758924 G>A	1.0	4240	BREAST	-	-	-	-	SLC25A29	uc010twx.2,p.P181S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010twx.2	nonsynonymous SNV	exon3	c.C541T	p.P181S	SCCWRAVRQASCPGSLPILWTWSSR	SCCWRAVRQASCSGSLPILWTWSSR	10.0	4.0	unscreened	-	4240_14:100758924-100758924 G>A_SCCWRAVRQASCSGSLPILWTWSSR
15:84527563-84527563 G>C	0.0	4240	BREAST	-	-	-	-	ADAMTSL3	ENST00000567476,p.R258T|NM_207517,p.R258T|uc002bjz.4,p.R258T|uc010bmt.1,p.R258T|ENST00000286744,p.R258T|NM_001301110,p.R258T	retained_intron, protein_coding, processed_transcript	uc010bmt.1	nonsynonymous SNV	exon8	c.G773C	p.R258T	NVIAVPLGSRSVRITVKGPAHLFIE	NVIAVPLGSRSVTITVKGPAHLFIE	4.0	5.0	unscreened	-	4240_15:84527563-84527563 G>C_NVIAVPLGSRSVTITVKGPAHLFIE
15:84527563-84527563 G>C	0.0	4240	BREAST	-	-	-	-	ADAMTSL3	uc002bjy.1,p.R258T	retained_intron, protein_coding, processed_transcript	uc002bjy.1	nonsynonymous SNV	exon8	c.G773C	p.R258T	NVIAVPLGSRSVRITVKGPAHLSSA	NVIAVPLGSRSVTITVKGPAHLSSA	4.0	5.0	unscreened	-	4240_15:84527563-84527563 G>C_NVIAVPLGSRSVTITVKGPAHLSSA
1:151810565-151810565 C>G	0.0	4240	BREAST	-	-	-	-	C2CD4D	NM_001136003,p.A301P|ENST00000454109,p.A301P|uc010pdq.1,p.A301P|uc021oyv.1,p.A301P	protein_coding	uc021oyv.1	nonsynonymous SNV	exon1	c.G901C	p.A301P	DFFFDGLGPPDLAARSLRAKVLDRG	DFFFDGLGPPDLPARSLRAKVLDRG	6.0	2.0	unscreened	-	4240_1:151810565-151810565 C>G_DFFFDGLGPPDLPARSLRAKVLDRG
17:76130063-76130063 G>C	0.0	4240	BREAST	-	-	-	-	TMC8	ENST00000318430,p.E266D|uc002jup.2,p.E266D|ENST00000589691,p.E43D|NM_152468,p.E266D|uc002juq.2,p.E43D	retained_intron, protein_coding, processed_transcript	uc002juq.2	nonsynonymous SNV	exon6	c.G129C	p.E43D	IRVQEAATIKKHEISNEFKVELEEG	IRVQEAATIKKHDISNEFKVELEEG	6.0	4.0	unscreened	-	4240_17:76130063-76130063 G>C_IRVQEAATIKKHDISNEFKVELEEG
5:140537209-140537209 G>A	0.0	4240	BREAST	-	-	-	-	PCDHB17	uc003lis.3,p.E544K|ENST00000539533,p.E545K	protein_coding	uc003lis.3	nonsynonymous SNV	exon1	c.G1630A	p.E544K	GASDRGSPALSSEALVRVLVCWTPT	GASDRGSPALSSKALVRVLVCWTPT	5.0	7.0	-	-	4240_5:140537209-140537209 G>A_GASDRGSPALSSKALVRVLVCWTPT
17:66980315-66980315 G>C	0.0	4240	BREAST	-	-	-	-	ABCA9	uc010dez.3,p.Q1423E|ENST00000453985,p.Q1423E|NM_080283,p.Q1461E|uc002jhu.3,p.Q1461E|ENST00000340001,p.Q1461E	retained_intron, protein_coding, processed_transcript	uc010dez.3	nonsynonymous SNV	exon33	c.C4267G	p.Q1423E	TGMDPEGQQQMWQVIRATFRNTERG	TGMDPEGQQQMWEVIRATFRNTERG	3.0	6.0	unscreened	-	4240_17:66980315-66980315 G>C_TGMDPEGQQQMWEVIRATFRNTERG
19:8650464-8650464 C>T	1.0	4240	BREAST	-	-	-	-	ADAMTS10	uc002mki.1,p.R401H|NM_001282352,p.R401H|ENST00000595838,p.R401H|ENST00000270328,p.R914H|NM_030957,p.R914H|uc002mkk.1,p.R546H|ENST00000597188,p.R914H|uc002mkj.1,p.R914H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkk.1	nonsynonymous SNV	exon22	c.G1637A	p.R546H	AGVRSRSVVCQRRVSAAEEKALDDS	AGVRSRSVVCQRHVSAAEEKALDDS	6.0	10.0	-	-	4240_19:8650464-8650464 C>T_AGVRSRSVVCQRHVSAAEEKALDDS
3:120871402-120871402 G>C	0.0	4240	BREAST	-	-	-	-	STXBP5L	NM_014980,p.D250H|ENST00000492541,p.D250H|ENST00000497029,p.D250H|uc003eec.4,p.D250H|ENST00000471454,p.D250H|ENST00000471262,p.D250H|uc011bji.2,p.D250H|ENST00000273666,p.D250H|ENST00000472879,p.D250H	protein_coding, nonsense_mediated_decay	uc011bji.2	nonsynonymous SNV	exon8	c.G748C	p.D250H	LKSKRAELRVYYDEAIHSIDWHHEG	LKSKRAELRVYYHEAIHSIDWHHEG	2.0	1.0	unscreened	-	4240_3:120871402-120871402 G>C_LKSKRAELRVYYHEAIHSIDWHHEG
1:9323870-9323870 G>C	0.0	4240	BREAST	-	-	ID=COSM1253941;OCCURENCE=1(oesophagus)	-	H6PD	NM_001282587,p.G451R|ENST00000377403,p.G440R|NM_004285,p.G440R|ENST00000602477,p.G451R|uc001apt.3,p.G440R	protein_coding, processed_transcript	uc001apt.3	nonsynonymous SNV	exon5	c.G1318C	p.G440R	KEMEGPPGLRLFGSPLSDYYAYSPV	KEMEGPPGLRLFRSPLSDYYAYSPV	7.0	2.0	-	-	4240_1:9323870-9323870 G>C_KEMEGPPGLRLFRSPLSDYYAYSPV
20:50406764-50406764 G>A	0.0	4240	BREAST	-	-	-	1	SALL4	uc002xwh.4,p.S753F|ENST00000217086,p.S753F|NM_020436,p.S753F	protein_coding, processed_transcript	uc002xwh.4	nonsynonymous SNV	exon2	c.C2258T	p.S753F	FNLQRQGSRENGSVESDGLTNDSSS	FNLQRQGSRENGFVESDGLTNDSSS	6.0	1.0	unscreened	-	4240_20:50406764-50406764 G>A_FNLQRQGSRENGFVESDGLTNDSSS
8:131812695-131812695 C>T	0.0	4240	BREAST	-	-	-	-	ADCY8	ENST00000286355,p.E1013K|uc010mds.3,p.E882K|ENST00000377928,p.E882K|NM_001115,p.E1013K|uc003ytd.4,p.E1013K	protein_coding	uc010mds.3	nonsynonymous SNV	exon12	c.G2644A	p.E882K	NNQGVECLRLLNEIIADFDELLGED	NNQGVECLRLLNKIIADFDELLGED	1.0	10.0	-	-	4240_8:131812695-131812695 C>T_NNQGVECLRLLNKIIADFDELLGED
1:208201497-208201497 C>T	0.0	4240	BREAST	-	-	-	-	PLXNA2	uc001hgy.3,p.A86T|NM_025179,p.A1816T|ENST00000367033,p.A1816T|uc001hgz.3,p.A1816T	protein_coding, processed_transcript	uc001hgz.3	nonsynonymous SNV	exon31	c.G5446A	p.A1816T	IPSYKSWVERYYADIAKLPAISDQD	IPSYKSWVERYYTDIAKLPAISDQD	6.0	2.0	unscreened	-	4240_1:208201497-208201497 C>T_IPSYKSWVERYYTDIAKLPAISDQD
12:57532349-57532349 G>A	0.0	4240	BREAST	-	-	-	-	LRP1	uc001snc.1,p.E59K|ENST00000338962,p.E59K|NM_002332,p.E59K|uc001snd.3,p.E59K|uc010sre.2,p.E59K|ENST00000243077,p.E59K|ENST00000554174,p.E59K|uc001snb.3,p.E59K|ENST00000553277,p.E59K	retained_intron, protein_coding, processed_transcript	uc010sre.2	nonsynonymous SNV	exon2	c.G175A	p.E59K	CDGERDCPDGSDEAPEICPQSKAQR	CDGERDCPDGSDKAPEICPQSKAQR	7.0	10.0	-	-	4240_12:57532349-57532349 G>A_CDGERDCPDGSDKAPEICPQSKAQR
19:15295114-15295114 C>G	1.0	4240	BREAST	-	-	-	-	NOTCH3	uc002nan.3,p.C853S|NM_000435,p.C853S|ENST00000263388,p.C853S	retained_intron, protein_coding, nonsense_mediated_decay	uc002nan.3	nonsynonymous SNV	exon16	c.G2558C	p.C853S	YTGPSCDQDINDCDPNPCLNGGSCQ	YTGPSCDQDINDSDPNPCLNGGSCQ	8.0	4.0	unscreened	-	4240_19:15295114-15295114 C>G_YTGPSCDQDINDSDPNPCLNGGSCQ
1:16725304-16725304 C>T	0.0	4240	BREAST	-	-	-	-	SPATA21	ENST00000335496,p.D456N|uc010occ.2,p.D433N|NM_198546,p.D456N|ENST00000540400,p.D433N|uc001ayn.3,p.D456N	protein_coding, processed_transcript	uc010occ.2	nonsynonymous SNV	exon11	c.G1297A	p.D433N	QSGSQGNREHNSDSRKWLSSVPART	QSGSQGNREHNSNSRKWLSSVPART	3.0	9.0	-	-	4240_1:16725304-16725304 C>T_QSGSQGNREHNSNSRKWLSSVPART
7:1132085-1132085 C>G	0.0	4240	BREAST	-	-	-	-	GPER1	ENST00000401670,p.L241V|uc010ksd.1,p.L241V|ENST00000397088,p.L241V|uc003ska.1,p.L241V|uc021zyo.1,p.L241V|NM_001505,p.L241V|NM_001098201,p.L241V|uc003sjz.1,p.L241V|ENST00000297469,p.L241V|NM_001039966,p.L241V|ENST00000397092,p.L241V|uc003skb.2,p.L241V	protein_coding	uc021zyo.1	nonsynonymous SNV	exon1	c.C721G	p.L241V	IIGLCYSLIVRVLVRAHRHRGLRPR	IIGLCYSLIVRVVVRAHRHRGLRPR	3.0	1.0	unscreened	-	4240_7:1132085-1132085 C>G_IIGLCYSLIVRVVVRAHRHRGLRPR
10:50854635-50854635 G>T	0.0	4240	BREAST	-	-	-	-	CHAT	NM_001142934,p.S281I|NM_001142933,p.S317I|NM_001142929,p.S281I|uc010qgs.1,p.S281I|ENST00000455728,p.S281I|ENST00000339797,p.S281I|ENST00000337653,p.S399I|uc001jhy.1,p.S281I|NM_020984,p.S281I|NM_020549,p.S399I|ENST00000395559,p.S281I|uc001jhv.1,p.S281I|ENST00000351556,p.S281I|uc001jhx.1,p.S281I|NM_020986,p.S281I|uc001jhz.2,p.S399I|ENST00000395562,p.S317I|NM_020985,p.S281I	protein_coding, processed_transcript	uc010qgs.1	nonsynonymous SNV	exon8	c.G842T	p.S281I	LVCLDAPGGVELSDTHRALQLLHGG	LVCLDAPGGVELIDTHRALQLLHGG	1.0	5.0	unscreened	-	4240_10:50854635-50854635 G>T_LVCLDAPGGVELIDTHRALQLLHGG
7:81603794-81603794 C>G	0.0	4240	BREAST	-	-	-	-	CACNA2D1	uc003uhr.1,p.R677T|ENST00000356253,p.R689T|NM_000722,p.R677T|ENST00000356860,p.R677T	retained_intron, protein_coding, processed_transcript	uc003uhr.1	nonsynonymous SNV	exon25	c.G2030C	p.R677T	TEFLLNFNEFIDRKTPNNPSCNADL	TEFLLNFNEFIDTKTPNNPSCNADL	5.0	9.0	-	-	4240_7:81603794-81603794 C>G_TEFLLNFNEFIDTKTPNNPSCNADL
12:129559271-129559271 G>A	0.0	4240	BREAST	-	-	-	-	TMEM132D	ENST00000389441,p.H355Y|NM_133448,p.H817Y|ENST00000422113,p.H817Y|uc001uia.2,p.H355Y|uc009zyl.1,p.H817Y	protein_coding	uc009zyl.1	nonsynonymous SNV	exon9	c.C2449T	p.H817Y	NTSDSRHTGAGVHMENNVSDRRPKK	NTSDSRHTGAGVYMENNVSDRRPKK	1.0	4.0	unscreened	-	4240_12:129559271-129559271 G>A_NTSDSRHTGAGVYMENNVSDRRPKK
1:74649144-74649144 G>C	0.0	4240	BREAST	-	-	-	-	LRRIQ3	ENST00000395089,p.I75M|NM_001105659,p.I75M|ENST00000370911,p.I75M|uc001dfy.4,p.I75M|ENST00000415760,p.I75M|ENST00000354431,p.I75M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001dfy.4	nonsynonymous SNV	exon2	c.C225G	p.I75M	TDIHPLQSCIKLIKLDLHGNQIKSL	TDIHPLQSCIKLMKLDLHGNQIKSL	5.0	5.0	unscreened	-	4240_1:74649144-74649144 G>C_TDIHPLQSCIKLMKLDLHGNQIKSL
X:1471217-1471217 G>T	0.0	4240	BREAST	-	-	-	-	IL3RA	NM_001267713,p.R67M|ENST00000381469,p.R67M|ENST00000331035,p.R145M|NM_002183,p.R145M|uc004cps.3,p.R145M|ENST00000432757,p.R67M|uc011mhd.3,p.R67M	protein_coding	uc011mhd.3	nonsynonymous SNV	exon4	c.G200T	p.R67M	DVQYDLYLNVANRRQQYECLHYKTD	DVQYDLYLNVANMRQQYECLHYKTD	5.0	5.0	unscreened	-	4240_X:1471217-1471217 G>T_DVQYDLYLNVANMRQQYECLHYKTD
5:151150198-151150198 G>C	0.0	4240	BREAST	-	-	-	-	LOC100652758	uc021ygc.2,p.L24V|NM_001278082,p.L24V	retained_intron, protein_coding	uc021ygc.2	nonsynonymous SNV	exon2	c.C70G	p.L24V	RAPASASGEPGPLASLRGASPSLEL	RAPASASGEPGPVASLRGASPSLEL	10.0	1.0	-	-	4240_5:151150198-151150198 G>C_RAPASASGEPGPVASLRGASPSLEL
X:31227814-31227814 C>G	0.0	4240	BREAST	-	-	-	-	DMD	uc004dcp.1,p.D54H|ENST00000541735,p.D662H|NM_004019,p.D54H|uc004dda.1,p.D3122H|ENST00000378707,p.D662H|ENST00000361471,p.D54H|uc004dcr.1,p.D662H|NM_004010,p.D2999H|uc004ddb.1,p.D3114H|uc004dcw.2,p.D1778H|ENST00000343523,p.D662H|NM_004011,p.D1781H|uc004dcm.1,p.D54H|NM_000109,p.D3114H|NM_004022,p.D662H|ENST00000358062,p.D818H|uc004dcx.2,p.D1781H|ENST00000357033,p.D3122H|uc004dco.1,p.D54H|uc004dcy.1,p.D3118H|NM_004017,p.D54H|NM_004023,p.D662H|NM_004006,p.D3122H|NM_004015,p.D54H|NM_004009,p.D3118H|uc004dcn.1,p.D54H|uc004dcv.1,p.D662H|NM_004013,p.D662H|uc004dcs.1,p.D662H|ENST00000359836,p.D662H|ENST00000378723,p.D54H|ENST00000378680,p.D54H|NM_004016,p.D54H|ENST00000378677,p.D3118H|uc004dcu.1,p.D662H|ENST00000378702,p.D54H|NM_004014,p.D393H|uc004dct.1,p.D662H|NM_004018,p.D54H|uc004dcz.2,p.D2999H|NM_004012,p.D1778H|ENST00000474231,p.D662H|uc010ngm.3,p.D54H|uc004dcq.1,p.D393H|uc011mkb.1,p.D54H|NM_004020,p.D662H|NM_004021,p.D662H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011mkb.1	nonsynonymous SNV	exon4	c.G160C	p.D54H	MKLRRLQKALCLDLLSLSAACDALD	MKLRRLQKALCLHLLSLSAACDALD	4.0	8.0	-	-	4240_X:31227814-31227814 C>G_MKLRRLQKALCLHLLSLSAACDALD
1:186649412-186649412 C>T	0.0	4240	BREAST	-	-	-	-	PTGS2	ENST00000367468,p.R4H|NM_000963,p.R4H|uc001gsb.3,p.R4H|ENST00000559627,p.R4H	protein_coding, processed_transcript, nonsense_mediated_decay	uc001gsb.3	nonsynonymous SNV	exon1	c.G11A	p.R4H	MLARALLLCAVLALSH	MLAHALLLCAVLALSH	3.0	3.0	unscreened	-	4240_1:186649412-186649412 C>T_MLAHALLLCAVLALSH
16:67325726-67325726 C>G	0.0	4240	BREAST	-	-	-	-	KCTD19	uc002esu.2,p.E745Q|NM_001100915,p.E745Q|ENST00000304372,p.E745Q|uc010vjj.1,p.E488Q|uc002est.2,p.E517Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vjj.1	nonsynonymous SNV	exon12	c.G1462C	p.E488Q	KQRTKERESPAPEQPLPEASEVDSL	KQRTKERESPAPQQPLPEASEVDSL	1.0	10.0	-	-	4240_16:67325726-67325726 C>G_KQRTKERESPAPQQPLPEASEVDSL
17:44626866-44626866 T>C	0.0	4240	BREAST	-	rs202051157	-	-	LRRC37A2	uc031rcx.1,p.L460P|uc031rcl.1,p.L1354P|uc031rcs.1,p.L1430P|uc002ikq.1,p.L415P|NM_001006607,p.L1454P|uc031rcn.1,p.L1330P|ENST00000333412,p.L1454P|uc031rcq.1,p.L1460P|ENST00000576629,p.L1454P|uc031rci.1,p.L1379P|uc010dax.2,p.L384P|uc031rcv.1,p.L1405P|uc002ikn.1,p.L1454P|uc031rct.1,p.L1430P	retained_intron, protein_coding	uc031rcx.1	nonsynonymous SNV	exon3	c.T1379C	p.L460P	ETKWEYNNVGTDLSPEPKSFNYPLL	ETKWEYNNVGTDPSPEPKSFNYPLL	8.0	6.0	unscreened	-	4240_17:44626866-44626866 T>C_ETKWEYNNVGTDPSPEPKSFNYPLL
19:33167719-33167719 G>A	0.0	4240	BREAST	-	-	-	-	RGS9BP	uc002ntp.1,p.E184K|ENST00000334176,p.E184K|NM_207391,p.E184K	protein_coding	uc002ntp.1	nonsynonymous SNV	exon1	c.G550A	p.E184K	RWTVQARQAAGAELLSTVSAGPSSV	RWTVQARQAAGAKLLSTVSAGPSSV	4.0	9.0	-	-	4240_19:33167719-33167719 G>A_RWTVQARQAAGAKLLSTVSAGPSSV
9:139283018-139283018 A>T	1.0	4240	BREAST	-	-	-	-	SNAPC4	uc004chh.3,p.L334Q|ENST00000298532,p.L334Q|NM_003086,p.L334Q	protein_coding	uc004chh.3	nonsynonymous SNV	exon10	c.T1001A	p.L334Q	EELGTSRSAFQCLQKFQQHNKALKR	EELGTSRSAFQCQQKFQQHNKALKR	7.0	8.0	-	-	4240_9:139283018-139283018 A>T_EELGTSRSAFQCQQKFQQHNKALKR
5:140740222-140740222 G>C	0.0	4240	BREAST	-	-	-	-	PCDHGB2	NM_032096,p.D174H|uc011dar.2,p.D174H|NM_018923,p.D174H|uc003ljs.2,p.D174H|ENST00000522605,p.D174H	protein_coding	uc011dar.2	nonsynonymous SNV	exon1	c.G520C	p.D174H	VGPNSLQRYHLNDNEYFDLAEKQTP	VGPNSLQRYHLNHNEYFDLAEKQTP	5.0	9.0	-	-	4240_5:140740222-140740222 G>C_VGPNSLQRYHLNHNEYFDLAEKQTP
2:88118106-88118106 C>T	0.0	4240	BREAST	-	-	-	-	RGPD1,RGPD2	NM_001078170,p.E37K|ENST00000420840,p.E29K|NM_001024457,p.E29K|ENST00000398146,p.E37K|uc010fhc.2,p.E37K|uc021vkn.1,p.E29K	protein_coding, processed_transcript	uc021vkn.1	nonsynonymous SNV	exon2	c.G85A	p.E29K	KLRGFYFAKLYYEAKEYDLAKKYVC	KLRGFYFAKLYYKAKEYDLAKKYVC	5.0	8.0	-	-	4240_2:88118106-88118106 C>T_KLRGFYFAKLYYKAKEYDLAKKYVC
10:1070582-1070582 C>T	0.0	4240	BREAST	-	-	-	-	IDI2	ENST00000277517,p.D28N|NM_033261,p.D28N|uc001ifv.1,p.D28N	protein_coding	uc001ifv.1	nonsynonymous SNV	exon2	c.G82A	p.D28N	RLEEMLIVVDENDKVIGADTKRNCH	RLEEMLIVVDENNKVIGADTKRNCH	3.0	8.0	-	-	4240_10:1070582-1070582 C>T_RLEEMLIVVDENNKVIGADTKRNCH
X:123518090-123518090 C>A	0.0	4240	BREAST	-	-	-	-	TENM1	NM_014253,p.D2224Y|uc011muj.2,p.D2230Y|NM_001163279,p.D2230Y|ENST00000371130,p.D2224Y|uc010nqy.3,p.D2231Y|NM_001163278,p.D2231Y|uc004euj.3,p.D2224Y|ENST00000422452,p.D2231Y	protein_coding, processed_transcript	uc011muj.2	nonsynonymous SNV	exon30	c.G6688T	p.D2230Y	MDEDGFLRQRGNDIFEYNSNGLLQK	MDEDGFLRQRGNYIFEYNSNGLLQK	1.0	3.0	unscreened	-	4240_X:123518090-123518090 C>A_MDEDGFLRQRGNYIFEYNSNGLLQK
8:35616940-35616940 G>C	0.0	4240	BREAST	-	-	-	-	UNC5D	uc003xjr.2,p.D756H|uc003xjs.2,p.D751H|NM_080872,p.D756H|ENST00000453357,p.D751H|ENST00000287272,p.D687H|uc003xju.2,p.D332H|ENST00000420357,p.D689H|ENST00000416672,p.D761H|ENST00000449677,p.D332H|ENST00000404895,p.D756H	retained_intron, protein_coding	uc003xju.2	nonsynonymous SNV	exon6	c.G994C	p.D332H	KGNTFSLQISVLDIPPFLWRIKPFT	KGNTFSLQISVLHIPPFLWRIKPFT	1.0	6.0	unscreened	-	4240_8:35616940-35616940 G>C_KGNTFSLQISVLHIPPFLWRIKPFT
7:117188797-117188797 A>G	0.0	4240	BREAST	-	rs201434579	-	-	CFTR	NM_000492,p.T438A|uc003vjd.3,p.T438A|ENST00000003084,p.T438A|ENST00000426809,p.T408A	protein_coding, processed_transcript, nonsense_mediated_decay	uc003vjd.3	nonsynonymous SNV	exon10	c.A1312G	p.T438A	DSLFFSNFSLLGTPVLKDINFKIER	DSLFFSNFSLLGAPVLKDINFKIER	5.0	5.0	unscreened	-	4240_7:117188797-117188797 A>G_DSLFFSNFSLLGAPVLKDINFKIER
20:278285-278285 C>A	1.0	4240	BREAST	-	-	-	-	ZCCHC3	uc002wdf.3,p.P20T|NM_033089,p.P20T|ENST00000382352,p.P20T	protein_coding	uc002wdf.3	nonsynonymous SNV	exon1	c.C58A	p.P20T	EEERKRGRPQLLPPARPAARGEEAD	EEERKRGRPQLLTPARPAARGEEAD	6.0	2.0	unscreened	-	4240_20:278285-278285 C>A_EEERKRGRPQLLTPARPAARGEEAD
X:14625330-14625330 C>G	0.0	4240	BREAST	-	-	-	-	GLRA2	uc011mip.2,p.P197A|uc004cwe.4,p.P219A|ENST00000443437,p.P130A|uc010nep.3,p.P219A|ENST00000218075,p.P219A|NM_001118886,p.P219A|NM_001171942,p.P130A|NM_001118885,p.P219A|ENST00000415367,p.P203A|uc011mio.2,p.P130A|ENST00000355020,p.P219A|uc010neq.3,p.P219A|NM_002063,p.P219A	protein_coding	uc011mip.2	nonsynonymous SNV	exon6	c.C589G	p.P197A	DGPVQVAEGLTLPQFILKEEKELGY	DGPVQVAEGLTLAQFILKEEKELGY	1.0	3.0	unscreened	-	4240_X:14625330-14625330 C>G_DGPVQVAEGLTLAQFILKEEKELGY
7:92733478-92733478 C>T	0.0	4240	BREAST	-	-	-	-	SAMD9	ENST00000379958,p.E645K|uc022ahg.1,p.E645K|uc003umg.3,p.E645K|NM_001193307,p.E645K|NM_017654,p.E645K|ENST00000446617,p.E645K|uc003umf.3,p.E645K	protein_coding	uc022ahg.1	nonsynonymous SNV	exon1	c.G1933A	p.E645K	PSIGLSTVLLKKEEDIMTALEIICE	PSIGLSTVLLKKKEDIMTALEIICE	5.0	6.0	unscreened	-	4240_7:92733478-92733478 C>T_PSIGLSTVLLKKKEDIMTALEIICE
6:84930778-84930778 C>T	0.0	4240	BREAST	-	-	ID=COSM744013;OCCURENCE=1(lung)	-	CEP162	uc003pkk.2,p.D57N|NM_014895,p.D57N|ENST00000403245,p.D57N|uc010kbp.3,p.D57N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kbp.3	nonsynonymous SNV	exon3	c.G169A	p.D57N	VPWWITEDDFKDDGLLGTNVSYLKT	VPWWITEDDFKDNGLLGTNVSYLKT	7.0	9.0	-	-	4240_6:84930778-84930778 C>T_VPWWITEDDFKDNGLLGTNVSYLKT
2:27528562-27528562 G>T	0.0	4240	BREAST	-	-	-	-	TRIM54	ENST00000296098,p.E282D|uc002rjo.3,p.E240D|uc002rjn.3,p.E282D|ENST00000380075,p.E240D|NM_187841,p.E240D|NM_032546,p.E282D	retained_intron, protein_coding	uc002rjo.3	nonsynonymous SNV	exon5	c.G720T	p.E240D	KGELLQALAREQEEKLQRVRGLIRQ	KGELLQALAREQDEKLQRVRGLIRQ	1.0	10.0	-	-	4240_2:27528562-27528562 G>T_KGELLQALAREQDEKLQRVRGLIRQ
21:31709893-31709893 C>T	0.0	4240	BREAST	-	-	-	-	KRTAP27-1	uc002ynx.1,p.D32N|NM_001077711,p.D32N|ENST00000382835,p.D32N	protein_coding	uc002ynx.1	nonsynonymous SNV	exon1	c.G94A	p.D32N	AITHGTNPITFEDRLCLPSSFHSRT	AITHGTNPITFENRLCLPSSFHSRT	1.0	4.0	unscreened	-	4240_21:31709893-31709893 C>T_AITHGTNPITFENRLCLPSSFHSRT
10:45953739-45953739 G>C	1.0	4240	BREAST	-	-	-	-	MARCH8	ENST00000395771,p.S275C|NM_001002266,p.S275C|NM_145021,p.S275C|uc001jcg.1,p.S144C|uc001jck.1,p.S275C|NM_001282866,p.S557C|uc001jch.2,p.S557C|uc001jci.1,p.S275C|ENST00000453424,p.S557C|ENST00000395769,p.S275C|ENST00000319836,p.S275C|uc001jcj.1,p.S275C	protein_coding, processed_transcript	uc001jck.1	nonsynonymous SNV	exon7	c.C824G	p.S275C	KHGYGICHSDTNSSCCTEPEDTGAE	KHGYGICHSDTNCSCCTEPEDTGAE	7.0	10.0	-	-	4240_10:45953739-45953739 G>C_KHGYGICHSDTNCSCCTEPEDTGAE
6:90089986-90089986 T>C	0.0	4240	BREAST	-	-	-	-	RRAGD	NM_021244,p.D182G|ENST00000369415,p.D182G|ENST00000359203,p.D31G|uc003pnd.4,p.D182G|uc010kcc.3,p.D31G	protein_coding, processed_transcript	uc010kcc.3	nonsynonymous SNV	exon2	c.A92G	p.D31G	TDINFEVFIHKVDGLSDDHKIETQR	TDINFEVFIHKVGGLSDDHKIETQR	5.0	10.0	-	-	4240_6:90089986-90089986 T>C_TDINFEVFIHKVGGLSDDHKIETQR
1:110034059-110034059 G>T	1.0	4240	BREAST	-	-	-	-	ATXN7L2	ENST00000369870,p.G625V|uc001dxr.3,p.G625V|uc001dxs.3,p.G252V|NM_153340,p.G625V	protein_coding, processed_transcript	uc001dxs.3	nonsynonymous SNV	exon3	c.G755T	p.G252V	LNGTMGPRVKRAGPLDCRGSPHQLP	LNGTMGPRVKRAVPLDCRGSPHQLP	7.0	6.0	unscreened	-	4240_1:110034059-110034059 G>T_LNGTMGPRVKRAVPLDCRGSPHQLP
19:45465271-45465271 C>A	1.0	4240	BREAST	-	-	-	-	CLPTM1	ENST00000541297,p.Q28K|uc010xxg.2,p.Q28K|ENST00000337392,p.Q42K|NM_001294,p.Q42K|NM_001282175,p.Q28K|ENST00000591304,p.Q42K|uc002pai.3,p.Q42K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xxg.2	nonsynonymous SNV	exon2	c.C82A	p.Q28K	SIGRDPPAETQPQNPPAQPAPNAWQ	SIGRDPPAETQPKNPPAQPAPNAWQ	10.0	1.0	unscreened	-	4240_19:45465271-45465271 C>A_SIGRDPPAETQPKNPPAQPAPNAWQ
11:60285612-60285612 G>C	0.0	4240	BREAST	-	-	-	-	MS4A13	ENST00000527948,p.G19A|ENST00000378185,p.G19A|NM_001012417,p.G19A|NM_001278320,p.G19A|uc009ynd.3,p.G19A|uc001nps.3,p.G19A|NM_001100909,p.G19A|ENST00000378186,p.G19A|uc009ync.3,p.G19A|ENST00000437058,p.G19A	protein_coding	uc009ynd.3	nonsynonymous SNV	exon3	c.G56C	p.G19A	IFMWYFLLVLYMGQIKGAFGTYEPV	IFMWYFLLVLYMAQIKGAFGTYEPV	1.0	3.0	unscreened	-	4240_11:60285612-60285612 G>C_IFMWYFLLVLYMAQIKGAFGTYEPV
9:2837324-2837324 C>G	1.0	4240	BREAST	-	-	-	-	KIAA0020	ENST00000397885,p.E54Q|NM_014878,p.E54Q|uc003zhq.1,p.E54Q|uc003zhp.1,p.E54Q	protein_coding, processed_transcript	uc003zhq.1	nonsynonymous SNV	exon3	c.G160C	p.E54Q	KEGGPKVTSRNFEKSITKLGKKGVK	KEGGPKVTSRNFQKSITKLGKKGVK	8.0	9.0	-	-	4240_9:2837324-2837324 C>G_KEGGPKVTSRNFQKSITKLGKKGVK
17:8215880-8215880 C>G	0.0	4240	BREAST	-	-	-	-	ARHGEF15	ENST00000579439,p.L175V|NM_173728,p.L175V|uc002gld.3,p.L175V|uc002glc.3,p.L175V|NM_025014,p.L175V|ENST00000361926,p.L175V|ENST00000421050,p.L175V|uc010vuw.2,p.L175V|uc002glb.2,p.L175V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vuw.2	nonsynonymous SNV	exon1	c.C523G	p.L175V	GRAQDADAPEPGLQARADVNGEREA	GRAQDADAPEPGVQARADVNGEREA	7.0	10.0	-	-	4240_17:8215880-8215880 C>G_GRAQDADAPEPGVQARADVNGEREA
11:55904280-55904280 C>T	0.0	4240	BREAST	-	-	-	-	OR8J3	NM_001004064,p.M305I|uc010riz.2,p.M305I|ENST00000301529,p.M305I	protein_coding	uc010riz.2	nonsynonymous SNV	exon1	c.G915A	p.M305I	RNNDVNVALKKFMENPCYSFKSM	RNNDVNVALKKFIENPCYSFKSM	1.0	9.0	-	-	4240_11:55904280-55904280 C>T_RNNDVNVALKKFIENPCYSFKSM
17:43922661-43922661 C>T	0.0	4240	BREAST	-	-	-	-	SPPL2C	uc010wka.2,p.S130L|NM_175882,p.S130L|ENST00000329196,p.S130L	protein_coding	uc010wka.2	nonsynonymous SNV	exon1	c.C389T	p.S130L	LLIVSRVSDQQCSDTTLAPQDPRQP	LLIVSRVSDQQCLDTTLAPQDPRQP	1.0	10.0	-	-	4240_17:43922661-43922661 C>T_LLIVSRVSDQQCLDTTLAPQDPRQP
X:153775048-153775048 G>C	0.0	4240	BREAST	-	-	-	-	G6PD	NM_000402,p.T13R|ENST00000393562,p.T13R|uc004flx.1,p.T13R	retained_intron, protein_coding, processed_transcript	uc004flx.1	nonsynonymous SNV	exon1	c.C38G	p.T13R	MGRRGSAPGNGRTLRGCERGGRRRR	MGRRGSAPGNGRRLRGCERGGRRRR	10.0	1.0	unscreened	-	4240_X:153775048-153775048 G>C_MGRRGSAPGNGRRLRGCERGGRRRR
11:119050543-119050543 G>A	0.0	4240	BREAST	-	-	-	-	NLRX1	NM_001282143,p.E605K|uc001pvu.3,p.E605K|uc001pvx.3,p.E605K|NM_001282144,p.E605K|ENST00000525863,p.E605K|NM_024618,p.E605K|ENST00000409265,p.E605K|ENST00000292199,p.E605K|uc001pvv.3,p.E605K|uc001pvw.3,p.E605K|ENST00000409109,p.E605K|ENST00000409991,p.E605K|NM_001282358,p.E605K|uc010rzc.1,p.E427K	retained_intron, protein_coding, processed_transcript	uc010rzc.1	nonsynonymous SNV	exon6	c.G1279A	p.E427K	VLDQMGASILGVEGPRRHPDEPPED	VLDQMGASILGVKGPRRHPDEPPED	5.0	10.0	-	-	4240_11:119050543-119050543 G>A_VLDQMGASILGVKGPRRHPDEPPED
19:38976336-38976336 G>T	0.0	4240	BREAST	-	-	-	-	RYR1	NM_001042723,p.A1681S|uc002oiu.3,p.A1681S|NM_000540,p.A1681S|uc002oit.3,p.A1681S|ENST00000359596,p.A1681S|ENST00000355481,p.A1681S|ENST00000360985,p.A1681S	retained_intron, protein_coding, nonsense_mediated_decay	uc002oiu.3	nonsynonymous SNV	exon34	c.G5041T	p.A1681S	YRAVCALGNNRVAHALCSHVDQAQL	YRAVCALGNNRVSHALCSHVDQAQL	3.0	8.0	-	-	4240_19:38976336-38976336 G>T_YRAVCALGNNRVSHALCSHVDQAQL
7:150649535-150649535 A>G	0.0	4240	BREAST	-	-	-	-	KCNH2	NM_001204798,p.I172T|ENST00000330883,p.I172T|uc003wib.3,p.I172T|ENST00000262186,p.I512T|uc011kux.2,p.I416T|uc003wid.3,p.I172T|uc003wic.3,p.I512T|NM_172057,p.I172T|NM_172056,p.I512T|ENST00000392968,p.I416T|NM_000238,p.I512T|uc003wie.3,p.I512T|ENST00000430723,p.I512T	retained_intron, protein_coding	uc011kux.2	nonsynonymous SNV	exon4	c.T1247C	p.I416T	IDMVAAIPFDLLIFGSGSEELIGLL	IDMVAAIPFDLLTFGSGSEELIGLL	2.0	6.0	unscreened	-	4240_7:150649535-150649535 A>G_IDMVAAIPFDLLTFGSGSEELIGLL
19:50102590-50102590 C>T	0.0	4240	BREAST	-	-	ID=COSM3835386,COSM3835387;OCCURENCE=1(breast)	-	PRR12	ENST00000418929,p.S1247L|NM_020719,p.S1247L|uc002poo.4,p.S1247L	retained_intron, protein_coding	uc002poo.4	nonsynonymous SNV	exon5	c.C3740T	p.S1247L	GEGLGTSSGDAISGTDHNSLDSSLT	GEGLGTSSGDAILGTDHNSLDSSLT	8.0	3.0	-	-	4240_19:50102590-50102590 C>T_GEGLGTSSGDAILGTDHNSLDSSLT
14:64194652-64194652 C>G	0.0	4240	BREAST	-	-	-	-	SGPP1	uc001xgj.3,p.R4T|NM_030791,p.R4T|ENST00000247225,p.R4T	protein_coding	uc001xgj.3	nonsynonymous SNV	exon1	c.G11C	p.R4T	MSLRQRLAQLVGRLQD	MSLTQRLAQLVGRLQD	5.0	3.0	unscreened	-	4240_14:64194652-64194652 C>G_MSLTQRLAQLVGRLQD
3:27216201-27216201 C>G	0.0	4240	BREAST	-	-	-	-	LRRC3B,NEK10	ENST00000383771,p.D189H|ENST00000383770,p.D189H|uc010hfk.3,p.D189H|ENST00000295720,p.D189H|ENST00000357467,p.D274H|uc010hfj.3,p.D189H|ENST00000429845,p.D877H|uc003cds.1,p.D274H	retained_intron, protein_coding, processed_transcript	uc010hfk.3	nonsynonymous SNV	exon6	c.G565C	p.D189H	PEGFQASYGKDEDRACDEILSDDNF	PEGFQASYGKDEHRACDEILSDDNF	8.0	8.0	-	-	4240_3:27216201-27216201 C>G_PEGFQASYGKDEHRACDEILSDDNF
1:171244612-171244612 T>G	0.0	4240	BREAST	-	-	-	-	FMO1	uc001ghl.3,p.L150R|uc010pme.2,p.L87R|ENST00000402921,p.L87R|NM_001282694,p.L87R|NM_001282692,p.L154R|uc001ghm.3,p.L150R|NM_001282693,p.L150R|NM_002021,p.L150R|ENST00000433267,p.L150R|uc009wvz.3,p.L150R|ENST00000354841,p.L150R|ENST00000367750,p.L150R	protein_coding, processed_transcript	uc010pme.2	nonsynonymous SNV	exon3	c.T260G	p.L87R	AIFDAVMVCTGFLTNPYLPLDSFPG	AIFDAVMVCTGFRTNPYLPLDSFPG	4.0	1.0	unscreened	-	4240_1:171244612-171244612 T>G_AIFDAVMVCTGFRTNPYLPLDSFPG
16:66998347-66998347 C>A	0.0	4240	BREAST	-	-	-	-	CES3	ENST00000570236,p.F216L|NM_001185177,p.F216L|ENST00000394037,p.F216L|NM_024922,p.F216L|uc002eqt.3,p.F216L|ENST00000303334,p.F216L|uc010cdz.3,p.F216L	retained_intron, protein_coding, nonsense_mediated_decay	uc010cdz.3	nonsynonymous SNV	exon5	c.C648A	p.F216L	AALRWVQENIAPFGGDLNCVTVFGG	AALRWVQENIAPLGGDLNCVTVFGG	3.0	8.0	-	-	4240_16:66998347-66998347 C>A_AALRWVQENIAPLGGDLNCVTVFGG
9:103340542-103340542 A>C	0.0	4240	BREAST	-	-	-	-	MURC	ENST00000307584,p.K39N|uc004bba.3,p.K39N|NM_001018116,p.K39N	protein_coding	uc004bba.3	nonsynonymous SNV	exon1	c.A117C	p.K39N	QDAALTIVTVLDKVASIVDSVQASQ	QDAALTIVTVLDNVASIVDSVQASQ	3.0	1.0	unscreened	-	4240_9:103340542-103340542 A>C_QDAALTIVTVLDNVASIVDSVQASQ
1:18703913-18703913 G>A	1.0	4240	BREAST	-	-	-	-	IGSF21	uc001bau.2,p.E441K|ENST00000251296,p.E441K|NM_032880,p.E441K|uc001bav.2,p.E262K	retained_intron, protein_coding, processed_transcript	uc001bav.2	nonsynonymous SNV	exon5	c.G784A	p.E262K	IVFENPNIPRGTEDSNGSIGPTGAR	IVFENPNIPRGTKDSNGSIGPTGAR	7.0	9.0	-	-	4240_1:18703913-18703913 G>A_IVFENPNIPRGTKDSNGSIGPTGAR
22:42310266-42310266 C>G	0.0	4240	BREAST	-	-	-	-	SHISA8	uc021wqh.1,p.E136Q|NM_001207020,p.E136Q	protein_coding	uc021wqh.1	nonsynonymous SNV	exon1	c.G406C	p.E136Q	ARDTAAPRDPGRERSHTAVYAVCGV	ARDTAAPRDPGRQRSHTAVYAVCGV	3.0	9.0	-	-	4240_22:42310266-42310266 C>G_ARDTAAPRDPGRQRSHTAVYAVCGV
X:140983304-140983304 G>A	0.0	4240	BREAST	-	-	ID=COSM1490561;OCCURENCE=1(breast)	-	MAGEC3	uc011mwp.2,p.R361Q|ENST00000298296,p.R361Q|NM_138702,p.R361Q	protein_coding, processed_transcript	uc011mwp.2	nonsynonymous SNV	exon6	c.G1082A	p.R361Q	QGLAGHRQEDGRRGLTEASPQQKKG	QGLAGHRQEDGRQGLTEASPQQKKG	3.0	9.0	-	-	4240_X:140983304-140983304 G>A_QGLAGHRQEDGRQGLTEASPQQKKG
3:126219654-126219654 C>G	0.0	4240	BREAST	-	-	-	-	UROC1	uc003eiz.2,p.Q343H|ENST00000383579,p.Q403H|ENST00000290868,p.Q343H|NM_001165974,p.Q403H|uc010hsi.2,p.Q403H|NM_144639,p.Q343H	protein_coding	uc010hsi.2	nonsynonymous SNV	exon12	c.G1209C	p.Q403H	TTGECLVDLGSDQTSCHNPFNGGYY	TTGECLVDLGSDHTSCHNPFNGGYY	2.0	2.0	unscreened	-	4240_3:126219654-126219654 C>G_TTGECLVDLGSDHTSCHNPFNGGYY
1:158368795-158368795 G>C	0.0	4240	BREAST	-	-	-	-	OR10T2	NM_001004475,p.F154L|ENST00000334438,p.F154L|uc010pih.2,p.F154L	protein_coding	uc010pih.2	nonsynonymous SNV	exon1	c.C462G	p.F154L	GLELISLSGATGFFIALVATNLICD	GLELISLSGATGLFIALVATNLICD	1.0	3.0	unscreened	-	4240_1:158368795-158368795 G>C_GLELISLSGATGLFIALVATNLICD
X:152826268-152826268 G>A	0.0	4240	BREAST	-	-	-	1	ATP2B3	ENST00000393842,p.G978S|ENST00000349466,p.G992S|ENST00000370186,p.G978S|uc010nuf.1,p.G15S|ENST00000263519,p.G992S|ENST00000370181,p.G978S|uc004fht.1,p.G992S|uc004fhs.1,p.G992S|ENST00000359149,p.G992S|NM_021949,p.G992S|NM_001001344,p.G992S	protein_coding, processed_transcript	uc010nuf.1	nonsynonymous SNV	exon1	c.G43A	p.G15S	QLFNEINARKIHGERNVFDGIFSNP	QLFNEINARKIHSERNVFDGIFSNP	1.0	5.0	unscreened	-	4240_X:152826268-152826268 G>A_QLFNEINARKIHSERNVFDGIFSNP
19:50861863-50861863 G>A	0.0	4240	BREAST	-	-	ID=COSM382111;OCCURENCE=1(lung)	-	NAPSA	ENST00000253719,p.R404C|NM_004851,p.R404C|uc002prx.3,p.R404C	retained_intron, protein_coding, nonsense_mediated_decay	uc002prx.3	nonsynonymous SNV	exon9	c.C1210T	p.R404C	SSARVGLARARTRGADLGWGETAQA	SSARVGLARARTCGADLGWGETAQA	3.0	8.0	-	-	4240_19:50861863-50861863 G>A_SSARVGLARARTCGADLGWGETAQA
20:61943064-61943064 G>A	0.0	4240	BREAST	-	-	-	-	COL20A1	ENST00000422202,p.E550K|uc011aav.2,p.E364K|ENST00000358894,p.E543K|NM_020882,p.E543K|ENST00000435874,p.E550K|uc011aau.2,p.E543K|ENST00000326996,p.E543K	retained_intron, protein_coding, processed_transcript	uc011aav.2	nonsynonymous SNV	exon9	c.G1090A	p.E364K	DYEVSVQSLRGPEGSEARGIRARTP	DYEVSVQSLRGPKGSEARGIRARTP	1.0	7.0	-	-	4240_20:61943064-61943064 G>A_DYEVSVQSLRGPKGSEARGIRARTP
5:76348610-76348610 T>G	1.0	4240	BREAST	-	-	-	-	AGGF1	uc003ket.3,p.V482G|NM_018046,p.V482G|ENST00000312916,p.V482G	protein_coding, processed_transcript, nonsense_mediated_decay	uc003ket.3	nonsynonymous SNV	exon9	c.T1445G	p.V482G	VLVDQGSQNGTIVNGKQILQPKTKC	VLVDQGSQNGTIGNGKQILQPKTKC	8.0	4.0	unscreened	-	4240_5:76348610-76348610 T>G_VLVDQGSQNGTIGNGKQILQPKTKC
2:228137792-228137792 C>T	0.0	4240	BREAST	0.0018	-	ID=COSM442421,COSM442420;OCCURENCE=1(breast)	-	COL4A3	uc002vom.2,p.T629M|ENST00000396578,p.T629M|NM_000091,p.T629M	retained_intron, protein_coding, processed_transcript	uc002vom.2	nonsynonymous SNV	exon26	c.C1886T	p.T629M	GYGPQGEPGLQGTQGVPGAPGPPGE	GYGPQGEPGLQGMQGVPGAPGPPGE	2.0	7.0	-	-	4240_2:228137792-228137792 C>T_GYGPQGEPGLQGMQGVPGAPGPPGE
5:140250600-140250600 G>A	0.0	4240	BREAST	-	-	-	-	PCDHA11	uc011dae.2,p.E638K|uc003lia.2,p.E638K|ENST00000398640,p.E638K|NM_018902,p.E638K|NM_031861,p.E638K	protein_coding	uc011dae.2	nonsynonymous SNV	exon1	c.G1912A	p.E638K	YTGEISTTRALDEADSPRHRLLVLV	YTGEISTTRALDKADSPRHRLLVLV	3.0	3.0	unscreened	-	4240_5:140250600-140250600 G>A_YTGEISTTRALDKADSPRHRLLVLV
11:60285633-60285633 G>C	0.0	4240	BREAST	-	-	-	-	MS4A13	NM_001012417,p.G26A|uc009ynd.3,p.G26A|NM_001278320,p.G26A|ENST00000437058,p.G26A|ENST00000527948,p.G26A|NM_001100909,p.G26A|ENST00000378186,p.G26A|uc001nps.3,p.G26A|uc009ync.3,p.G26A|ENST00000378185,p.G26A	protein_coding	uc009ynd.3	nonsynonymous SNV	exon3	c.G77C	p.G26A	LVLYMGQIKGAFGTYEPVTYKTGCT	LVLYMGQIKGAFATYEPVTYKTGCT	1.0	3.0	unscreened	-	4240_11:60285633-60285633 G>C_LVLYMGQIKGAFATYEPVTYKTGCT
1:65146969-65146969 G>C	0.0	4240	BREAST	-	-	-	-	CACHD1	uc001dbq.1,p.E849D|uc001dbp.1,p.E849D|uc010opa.1,p.E338D|uc001dbo.1,p.E1094D|ENST00000371073,p.E1145D|NM_020925,p.E1094D|ENST00000290039,p.E1094D|NM_001293274,p.E849D	retained_intron, protein_coding, processed_transcript	uc010opa.1	nonsynonymous SNV	exon11	c.G1014C	p.E338D	AAQEMSVRMSNLENDRDERDDDSHE	AAQEMSVRMSNLDNDRDERDDDSHE	4.0	9.0	-	-	4240_1:65146969-65146969 G>C_AAQEMSVRMSNLDNDRDERDDDSHE
1:236914796-236914796 C>A	0.0	4240	BREAST	-	-	ID=COSM400979;OCCURENCE=1(lung)	-	ACTN2	ENST00000366578,p.F561L|uc001hyg.2,p.F353L|uc009xgi.1,p.F561L|uc001hyf.2,p.F561L|NM_001278344,p.F353L|NM_001103,p.F561L|ENST00000546208,p.F55L|uc010pxu.1,p.F250L|NM_001278343,p.F561L|ENST00000542672,p.F561L	protein_coding, processed_transcript	uc010pxu.1	nonsynonymous SNV	exon8	c.C750A	p.F250L	EEIQSLITAHEQFKATLPEADGERQ	EEIQSLITAHEQLKATLPEADGERQ	2.0	6.0	-	-	4240_1:236914796-236914796 C>A_EEIQSLITAHEQLKATLPEADGERQ
1:211652485-211652485 G>C	0.0	4240	BREAST	-	-	-	-	RD3	uc001him.2,p.P161A|ENST00000367002,p.P161A|uc001hin.2,p.P161A|NM_183059,p.P161A|NM_001164688,p.P161A	protein_coding, processed_transcript	uc001hin.2	nonsynonymous SNV	exon3	c.C481G	p.P161A	SLATFKTRARISPFASDIRTISEDV	SLATFKTRARISAFASDIRTISEDV	1.0	1.0	unscreened	-	4240_1:211652485-211652485 G>C_SLATFKTRARISAFASDIRTISEDV
5:171765929-171765929 C>G	0.0	4240	BREAST	-	-	-	-	SH3PXD2B	ENST00000311601,p.R727T|NM_001017995,p.R727T|uc003mbr.3,p.R727T	protein_coding, processed_transcript	uc003mbr.3	nonsynonymous SNV	exon13	c.G2180C	p.R727T	KQDGLSPKEISCRAPPRPAKTTDPV	KQDGLSPKEISCTAPPRPAKTTDPV	6.0	6.0	-	-	4240_5:171765929-171765929 C>G_KQDGLSPKEISCTAPPRPAKTTDPV
19:17838903-17838903 G>A	1.0	4240	BREAST	-	-	-	-	MAP1S	uc010eaz.2,p.E517K|ENST00000324096,p.E904K|ENST00000544059,p.E878K|NM_018174,p.E904K|uc002nhe.1,p.E904K|uc010xpv.1,p.E878K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xpv.1	nonsynonymous SNV	exon5	c.G2632A	p.E878K	GDRASRPLSARSEPSEKGGRAPLSR	GDRASRPLSARSKPSEKGGRAPLSR	9.0	7.0	unscreened	-	4240_19:17838903-17838903 G>A_GDRASRPLSARSKPSEKGGRAPLSR
6:30863232-30863232 G>A	1.0	4240	BREAST	-	-	ID=COSM252467,COSM252466;OCCURENCE=1(large_intestine),1(ovary)	-	DDR1	NM_013994,p.R522H|ENST00000376575,p.R522H|NM_001297654,p.R522H|ENST00000513240,p.R522H|ENST00000452441,p.R522H|uc003nrv.3,p.R522H|ENST00000324771,p.R522H|ENST00000376568,p.R522H|NM_013993,p.R522H|uc003nrs.3,p.R522H|uc003nrr.3,p.R522H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003nrv.3	nonsynonymous SNV	exon11	c.G1565A	p.R522H	NPAYRLLLATYARPPRGPGPPTPAW	NPAYRLLLATYAHPPRGPGPPTPAW	10.0	5.0	-	-	4240_6:30863232-30863232 G>A_NPAYRLLLATYAHPPRGPGPPTPAW
2:234737350-234737350 C>G	0.0	4240	BREAST	-	-	-	-	MROH2A	ENST00000389758,p.D1398E|NM_001287395,p.D1410E|uc002vvf.3,p.D24E	retained_intron, protein_coding, processed_transcript	uc002vvf.3	nonsynonymous SNV	exon1	c.C72G	p.D24E	LKPAALLLEKGADQEEDEALRVLSL	LKPAALLLEKGAEQEEDEALRVLSL	1.0	4.0	unscreened	-	4240_2:234737350-234737350 C>G_LKPAALLLEKGAEQEEDEALRVLSL
1:155324285-155324285 C>T	0.0	4240	BREAST	-	-	-	-	ASH1L	uc001fkt.3,p.D2398N|ENST00000392403,p.D2398N|uc009wqq.3,p.D2403N|ENST00000368346,p.D2403N|NM_018489,p.D2398N	retained_intron, protein_coding, nonsense_mediated_decay	uc009wqq.3	nonsynonymous SNV	exon16	c.G7207A	p.D2403N	ASLYTRWNGICRDDGNIKSDVFMTQ	ASLYTRWNGICRNDGNIKSDVFMTQ	9.0	5.0	-	-	4240_1:155324285-155324285 C>T_ASLYTRWNGICRNDGNIKSDVFMTQ
12:11506709-11506709 C>A	0.0	4240	BREAST	-	-	-	-	PRB1	uc001qzw.1,p.G110C	retained_intron, protein_coding	uc001qzw.1	nonsynonymous SNV	exon3	c.G328T	p.G110C	QGPPPQGGNQPQGPPPPPGKPQGPP	QGPPPQGGNQPQCPPPPPGKPQGPP	1.0	8.0	-	-	4240_12:11506709-11506709 C>A_QGPPPQGGNQPQCPPPPPGKPQGPP
11:5799418-5799418 G>C	0.0	4240	BREAST	-	-	-	-	OR52N5	ENST00000317093,p.I149M|uc010qzn.2,p.I149M|NM_001001922,p.I149M	protein_coding	uc010qzn.2	nonsynonymous SNV	exon1	c.C447G	p.I149M	YPLRYATTLTNPIIAKAELATFLRG	YPLRYATTLTNPMIAKAELATFLRG	1.0	4.0	unscreened	-	4240_11:5799418-5799418 G>C_YPLRYATTLTNPMIAKAELATFLRG
3:195510142-195510142 G>T	0.0	4240	BREAST	-	-	-	2	MUC4	ENST00000466475,p.P2770H|ENST00000477086,p.P2770H|ENST00000463781,p.P2770H|ENST00000478156,p.P2770H|ENST00000477756,p.P2770H|ENST00000470451,p.P2770H|ENST00000479406,p.P2770H|uc021xjp.1,p.P2770H|ENST00000475231,p.P2770H|ENST00000462323,p.P2770H|NM_018406,p.P2770H|ENST00000480843,p.P2770H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C8309A	p.P2770H	TSSASTGHATPLPVTNTSSVSTGHA	TSSASTGHATPLHVTNTSSVSTGHA	1.0	4.0	unscreened	-	4240_3:195510142-195510142 G>T_TSSASTGHATPLHVTNTSSVSTGHA
9:138236071-138236071 G>A	0.0	4240	BREAST	-	-	-	-	C9orf62	ENST00000320778,p.E93K|NM_173520,p.E93K|uc004cfo.3,p.E93K	protein_coding	uc004cfo.3	nonsynonymous SNV	exon2	c.G277A	p.E93K	LGWRLRNSLTGQEGRQHLHLSGIRT	LGWRLRNSLTGQKGRQHLHLSGIRT	1.0	8.0	-	-	4240_9:138236071-138236071 G>A_LGWRLRNSLTGQKGRQHLHLSGIRT
19:49611286-49611286 G>C	1.0	4240	BREAST	-	-	-	-	SNRNP70	uc002pmh.3,p.G78A|uc021uxh.1,p.G87A	retained_intron, protein_coding, nonsense_mediated_decay	uc021uxh.1	nonsynonymous SNV	exon4	c.G260C	p.G87A	GSGEAAGVGSGPGGSGSARRSCVAA	GSGEAAGVGSGPAGSGSARRSCVAA	10.0	4.0	-	-	4240_19:49611286-49611286 G>C_GSGEAAGVGSGPAGSGSARRSCVAA
3:195512617-195512617 G>T	0.0	4240	BREAST	-	-	-	2	MUC4	ENST00000480843,p.A1945E|ENST00000478156,p.A1945E|ENST00000470451,p.A1945E|ENST00000466475,p.A1945E|NM_018406,p.A1945E|ENST00000475231,p.A1945E|ENST00000477086,p.A1945E|ENST00000477756,p.A1945E|ENST00000479406,p.A1945E|ENST00000463781,p.A1945E|uc021xjp.1,p.A1945E|ENST00000462323,p.A1945E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C5834A	p.A1945E	DTTPLPVTSPSSASSGHTTPLPVTD	DTTPLPVTSPSSESSGHTTPLPVTD	1.0	3.0	unscreened	-	4240_3:195512617-195512617 G>T_DTTPLPVTSPSSESSGHTTPLPVTD
3:121001183-121001183 G>C	0.0	4240	BREAST	-	-	-	-	STXBP5L	uc003eec.4,p.Q727H|ENST00000471262,p.Q727H|ENST00000492541,p.Q727H|NM_014980,p.Q727H|ENST00000273666,p.Q727H|ENST00000497029,p.Q727H	protein_coding, nonsense_mediated_decay	uc003eec.4	nonsynonymous SNV	exon20	c.G2181C	p.Q727H	YPDLTKRIRTSYQSLTELNDSPVPL	YPDLTKRIRTSYHSLTELNDSPVPL	2.0	4.0	unscreened	-	4240_3:121001183-121001183 G>C_YPDLTKRIRTSYHSLTELNDSPVPL
5:140181875-140181875 C>G	0.0	4240	BREAST	-	-	-	-	PCDHA3	uc003lhf.2,p.L365V|ENST00000532566,p.L365V|uc011czz.2,p.L365V|NM_018906,p.L365V|NM_031497,p.L365V|ENST00000522353,p.L365V	protein_coding	uc011czz.2	nonsynonymous SNV	exon1	c.C1093G	p.L365V	QSLSLPVLEDSPLSTVIALISVSDR	QSLSLPVLEDSPVSTVIALISVSDR	3.0	1.0	unscreened	-	4240_5:140181875-140181875 C>G_QSLSLPVLEDSPVSTVIALISVSDR
12:48141346-48141346 C>G	1.0	4240	BREAST	-	-	-	-	RAPGEF3	NM_001098532,p.E471Q|ENST00000549151,p.E471Q|NM_001098531,p.E513Q|ENST00000405493,p.E471Q|ENST00000548919,p.E471Q|ENST00000389212,p.E513Q|NM_006105,p.E471Q|ENST00000449771,p.E513Q|ENST00000171000,p.E471Q|uc001rqa.3,p.E35Q|ENST00000395358,p.E513Q|uc001rpz.4,p.E513Q|uc010sln.2,p.E35Q|uc009zkq.3,p.E471Q|uc009zkp.3,p.E471Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sln.2	nonsynonymous SNV	exon2	c.G103C	p.E35Q	TRLSNLLREQWPERRRCHRLENGCG	TRLSNLLREQWPQRRRCHRLENGCG	8.0	5.0	unscreened	-	4240_12:48141346-48141346 C>G_TRLSNLLREQWPQRRRCHRLENGCG
20:57415359-57415359 C>G	0.0	4240	BREAST	-	-	-	1	GNAS	NM_016592,p.N66K|ENST00000371075,p.N66K|ENST00000313949,p.N66K|uc021wfm.1,p.N66K|uc021wfl.1,p.N66K|ENST00000371098,p.N66K	retained_intron, protein_coding, processed_transcript	uc021wfm.1	nonsynonymous SNV	exon1	c.C198G	p.N66K	QRAAAQQRRSFLNAHHRSGAQVFPE	QRAAAQQRRSFLKAHHRSGAQVFPE	10.0	1.0	-	-	4240_20:57415359-57415359 C>G_QRAAAQQRRSFLKAHHRSGAQVFPE
17:40706861-40706861 G>C	0.0	4240	BREAST	-	-	-	-	HSD17B1	ENST00000585807,p.A298P|ENST00000225929,p.A299P|NM_000413,p.A298P|uc002hzw.3,p.A298P|uc010cyi.3,p.A329P	retained_intron, protein_coding, nonsense_mediated_decay	uc010cyi.3	nonsynonymous SNV	exon5	c.G985C	p.A329P	GDVPAKAEAGAEAGGGAGPGAEDEA	GDVPAKAEAGAEPGGGAGPGAEDEA	6.0	7.0	unscreened	-	4240_17:40706861-40706861 G>C_GDVPAKAEAGAEPGGGAGPGAEDEA
8:139729090-139729090 A>-	0.0	4240	BREAST	-	-	-	-	COL22A1	ENST00000435777,p.L793fs|uc011ljo.2,p.L93fs|ENST00000303045,p.L793fs|uc003yvd.3,p.L793fs|NM_152888,p.L793fs	protein_coding, processed_transcript	uc011ljo.2	frameshift deletion	exon11	c.278delT	p.L93fs	KPGLRGEIGEQGLAGRPGEKGEAGL	KPGLRGEIGEQGRQADLERREKQASQGLQASQV	3.0	7.0	unscreened	-	4240_8:139729090-139729090 A>-_KPGLRGEIGEQGRQADLERREKQASQGLQASQV
5:70754563-70754563 G>C	0.0	4240	BREAST	-	-	-	-	BDP1	uc003kbo.3,p.E124Q|ENST00000358731,p.E124Q|NM_018429,p.E124Q|uc003kbp.1,p.E124Q|uc003kbn.1,p.E124Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003kbp.1	nonsynonymous SNV	exon2	c.G370C	p.E124Q	PSESHPLSTINQEAPQPTATSTKEK	PSESHPLSTINQQAPQPTATSTKEK	8.0	3.0	unscreened	-	4240_5:70754563-70754563 G>C_PSESHPLSTINQQAPQPTATSTKEK
15:54308056-54308056 G>C	0.0	4240	BREAST	-	-	-	-	UNC13C	NM_001080534,p.E986Q|uc021sms.1,p.E986Q|uc021smr.1,p.E986Q|ENST00000537900,p.E986Q|ENST00000260323,p.E986Q	retained_intron, protein_coding	uc021sms.1	nonsynonymous SNV	exon1	c.G2956C	p.E986Q	EAALRAYKKQMAELEEKILAGDSSS	EAALRAYKKQMAQLEEKILAGDSSS	1.0	6.0	unscreened	-	4240_15:54308056-54308056 G>C_EAALRAYKKQMAQLEEKILAGDSSS
21:47684091-47684091 A>T	1.0	4240	BREAST	-	-	-	-	MCM3AP	ENST00000397708,p.L1092Q|ENST00000291688,p.L1092Q|NM_003906,p.L1092Q|uc002ziq.1,p.L19Q|uc002zir.1,p.L1092Q	retained_intron, protein_coding, processed_transcript	uc002zir.1	nonsynonymous SNV	exon13	c.T3275A	p.L1092Q	LAQVVDELIQEALQRDCEEVGSAGA	LAQVVDELIQEAQQRDCEEVGSAGA	9.0	5.0	unscreened	-	4240_21:47684091-47684091 A>T_LAQVVDELIQEAQQRDCEEVGSAGA
20:60469991-60469991 T>C	0.0	4240	BREAST	-	-	-	-	CDH4	uc002ybn.2,p.V359A|uc002ybp.2,p.V285A|ENST00000543233,p.V285A|NM_001794,p.V359A|NM_001252338,p.V322A|ENST00000360469,p.V359A|uc002ybr.2,p.V322A|NM_001252339,p.V285A	protein_coding	uc002ybr.2	nonsynonymous SNV	exon7	c.T965C	p.V322A	LDREKVQQYTVIVQATDMEGNLNYG	LDREKVQQYTVIAQATDMEGNLNYG	1.0	2.0	unscreened	-	4240_20:60469991-60469991 T>C_LDREKVQQYTVIAQATDMEGNLNYG
16:1259251-1259251 C>T	0.0	4240	BREAST	-	-	-	-	CACNA1H	uc002cks.3,p.R1195W|NM_001005407,p.R1195W|NM_021098,p.R1195W|uc002ckt.3,p.R1195W|ENST00000348261,p.R1195W|ENST00000565831,p.R1195W|ENST00000358590,p.R1195W	retained_intron, protein_coding	uc002ckt.3	nonsynonymous SNV	exon17	c.C3583T	p.R1195W	RAAPGPRATPLRRAESLDPRPLRPA	RAAPGPRATPLRWAESLDPRPLRPA	4.0	4.0	unscreened	-	4240_16:1259251-1259251 C>T_RAAPGPRATPLRWAESLDPRPLRPA
X:140985602-140985602 A>C	0.0	4240	BREAST	-	-	-	-	MAGEC3	ENST00000298296,p.N639T|NM_138702,p.N639T|uc011mwp.2,p.N639T	protein_coding, processed_transcript	uc011mwp.2	nonsynonymous SNV	exon8	c.A1916C	p.N639T	AMASASPSVMSTNFCPE	AMASASPSVMSTTFCPE	3.0	1.0	unscreened	-	4240_X:140985602-140985602 A>C_AMASASPSVMSTTFCPE
10:38344182-38344182 G>C	1.0	4240	BREAST	-	-	-	-	ZNF33A	uc031pun.1,p.R265T|ENST00000374618,p.R377T|uc001izg.3,p.R377T|NM_001278177,p.R398T|uc031pum.1,p.R334T|uc031puk.1,p.R299T|NM_001278174,p.R265T|NM_001278178,p.R265T|uc021ppe.1,p.R377T|uc031puh.1,p.R265T|NM_001278173,p.R395T|ENST00000458705,p.R376T|NM_001278175,p.R299T|uc031puj.1,p.R265T|NM_006954,p.R377T|uc031puo.1,p.R395T|NM_001278176,p.R334T|uc031pul.1,p.R265T|uc010qev.2,p.R383T|NM_006974,p.R376T|NM_001278179,p.R265T|ENST00000432900,p.R383T|uc031pui.1,p.R398T|uc001izh.3,p.R376T|NM_001278170,p.R383T|ENST00000307441,p.R376T|NM_001278171,p.R265T	protein_coding, processed_transcript, nonsense_mediated_decay	uc031puo.1	nonsynonymous SNV	exon6	c.G1184C	p.R395T	AFWDKSNLTKHQRSHTGEKPFECNE	AFWDKSNLTKHQTSHTGEKPFECNE	9.0	1.0	unscreened	-	4240_10:38344182-38344182 G>C_AFWDKSNLTKHQTSHTGEKPFECNE
7:1785884-1785884 C>T	0.0	4240	BREAST	-	-	-	-	ELFN1	uc031swk.1,p.S551L|uc010ksg.2,p.S551L|ENST00000424383,p.S551L|ENST00000561626,p.S551L|NM_001128636,p.S551L	protein_coding	uc031swk.1	nonsynonymous SNV	exon1	c.C1652T	p.S551L	CELGRPGPDSQSSVAEISTIAKEVD	CELGRPGPDSQSLVAEISTIAKEVD	4.0	3.0	unscreened	-	4240_7:1785884-1785884 C>T_CELGRPGPDSQSLVAEISTIAKEVD
12:111758445-111758445 C>G	0.0	4240	BREAST	-	-	-	-	CUX2	NM_015267,p.P878A|uc001tsa.2,p.P878A|ENST00000261726,p.P878A	protein_coding, processed_transcript	uc001tsa.2	nonsynonymous SNV	exon17	c.C2632G	p.P878A	PYYPAYVPRTLKPTVPPLTPEQYEL	PYYPAYVPRTLKATVPPLTPEQYEL	3.0	1.0	unscreened	-	4240_12:111758445-111758445 C>G_PYYPAYVPRTLKATVPPLTPEQYEL
9:43625036-43625036 C>T	0.0	4240	BREAST	-	-	-	-	SPATA31A6	uc011lrb.2,p.M1217I|ENST00000332857,p.M1217I|NM_001145196,p.M1217I	protein_coding, processed_transcript	uc011lrb.2	nonsynonymous SNV	exon4	c.G3651A	p.M1217I	LMTAVGQMLDKKMSLCHAHHASKVN	LMTAVGQMLDKKISLCHAHHASKVN	1.0	5.0	unscreened	-	4240_9:43625036-43625036 C>T_LMTAVGQMLDKKISLCHAHHASKVN
X:151821034-151821034 A>G	0.0	4240	BREAST	-	-	-	-	GABRQ	ENST00000370306,p.S397G|NM_018558,p.S397G|uc004ffp.1,p.S397G	protein_coding	uc004ffp.1	nonsynonymous SNV	exon9	c.A1189G	p.S397G	VQDGLINVEDGVSSLPITPAQAPLA	VQDGLINVEDGVGSLPITPAQAPLA	1.0	4.0	unscreened	-	4240_X:151821034-151821034 A>G_VQDGLINVEDGVGSLPITPAQAPLA
1:173939742-173939742 C>T	0.0	4240	BREAST	-	-	-	-	RC3H1	NM_001300851,p.S412N|uc010pms.2,p.S412N|ENST00000367696,p.S412N|uc001gju.4,p.S412N|NM_001300850,p.S412N|ENST00000258349,p.S412N|uc010pmt.2,p.S412N|uc001gjv.3,p.S412N|NM_172071,p.S412N|NM_001300852,p.S412N|ENST00000367694,p.S412N	retained_intron, protein_coding	uc010pmt.2	nonsynonymous SNV	exon8	c.G1235A	p.S412N	KKGADQQQPPQHSKYKTYMCRDMKQ	KKGADQQQPPQHNKYKTYMCRDMKQ	8.0	3.0	unscreened	-	4240_1:173939742-173939742 C>T_KKGADQQQPPQHNKYKTYMCRDMKQ
6:114378489-114378489 G>A	0.0	4240	BREAST	-	-	ID=COSM1072326;OCCURENCE=2(endometrium),1(large_intestine)	-	HS3ST5	ENST00000312719,p.R325C|NM_153612,p.R325C|ENST00000411826,p.R325C|uc003pwh.4,p.R325C|uc003pwg.4,p.R325C	protein_coding, processed_transcript	uc003pwh.4	nonsynonymous SNV	exon5	c.C973T	p.R325C	HPEVDPSVITKLRKFFHPFNQKFYQ	HPEVDPSVITKLCKFFHPFNQKFYQ	3.0	5.0	-	-	4240_6:114378489-114378489 G>A_HPEVDPSVITKLCKFFHPFNQKFYQ
19:52919827-52919827 G>C	1.0	4240	BREAST	-	-	-	-	ZNF528	uc002pzh.3,p.K574N|NM_032423,p.K574N|ENST00000360465,p.K574N|uc031rmk.1,p.K512N|uc002pzi.3,p.K341N	retained_intron, protein_coding, processed_transcript	uc031rmk.1	nonsynonymous SNV	exon3	c.G1536C	p.K512N	SGLTAHLAIHTEKKSHECKECGKIF	SGLTAHLAIHTENKSHECKECGKIF	9.0	6.0	unscreened	-	4240_19:52919827-52919827 G>C_SGLTAHLAIHTENKSHECKECGKIF
5:149681900-149681900 G>C	0.0	4240	BREAST	-	-	-	-	ARSI	uc003lrv.2,p.L13V|NM_001012301,p.L13V|ENST00000328668,p.L13V	protein_coding	uc003lrv.2	nonsynonymous SNV	exon1	c.C37G	p.L13V	MHTLTGFSLVSLLSFGYLSWDWAKP	MHTLTGFSLVSLVSFGYLSWDWAKP	4.0	2.0	unscreened	-	4240_5:149681900-149681900 G>C_MHTLTGFSLVSLVSFGYLSWDWAKP
X:150349071-150349071 G>A	0.0	4240	BREAST	-	-	ID=COSM1166381,COSM1166382;OCCURENCE=1(large_intestine)	-	GPR50	ENST00000218316,p.R339H|uc010ntg.2,p.R339H|NM_004224,p.R339H	protein_coding	uc010ntg.2	nonsynonymous SNV	exon2	c.G1016A	p.R339H	REMQEARTLARARAHARDQAREQDR	REMQEARTLARAHAHARDQAREQDR	1.0	5.0	-	-	4240_X:150349071-150349071 G>A_REMQEARTLARAHAHARDQAREQDR
3:186450330-186450330 G>C	0.0	4240	BREAST	-	-	-	-	KNG1	uc003fqr.3,p.G266A|ENST00000287611,p.G266A|ENST00000447445,p.G230A|NM_001166451,p.G230A|NM_000893,p.G266A|uc011bsa.2,p.G266A|NM_001102416,p.G266A|ENST00000265023,p.G266A|uc021xil.1,p.G230A	protein_coding	uc021xil.1	nonsynonymous SNV	exon6	c.G689C	p.G230A	KDFVQPPTKICVGCPRDIPTNSPEL	KDFVQPPTKICVACPRDIPTNSPEL	7.0	4.0	unscreened	-	4240_3:186450330-186450330 G>C_KDFVQPPTKICVACPRDIPTNSPEL
X:153285096-153285096 C>G	0.0	4240	BREAST	-	-	-	-	IRAK1	ENST00000429936,p.E56D|ENST00000393682,p.E56D|ENST00000369973,p.E56D|uc004fju.2,p.E56D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004fju.2	nonsynonymous SNV	exon1	c.G168C	p.E56D	QFGGWRRAAGGREARGLLAPTPDAP	QFGGWRRAAGGRDARGLLAPTPDAP	9.0	4.0	unscreened	-	4240_X:153285096-153285096 C>G_QFGGWRRAAGGRDARGLLAPTPDAP
2:136513168-136513168 G>C	1.0	4240	BREAST	-	-	-	-	UBXN4	NM_014607,p.E139Q|ENST00000272638,p.E139Q|uc002tur.3,p.E139Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tur.3	nonsynonymous SNV	exon5	c.G415C	p.E139Q	SESSVSTPSASFEPNNTCENSQSRN	SESSVSTPSASFQPNNTCENSQSRN	10.0	6.0	unscreened	-	4240_2:136513168-136513168 G>C_SESSVSTPSASFQPNNTCENSQSRN
1:155921716-155921716 G>C	0.0	4240	BREAST	-	-	-	-	ARHGEF2	ENST00000368315,p.S723R|NM_001162383,p.S722R|uc001fmt.2,p.S722R|ENST00000313695,p.S694R|uc001fms.2,p.S721R|ENST00000368316,p.S694R|ENST00000361247,p.S722R|ENST00000313667,p.S721R|NM_004723,p.S694R|NM_001162384,p.S721R|uc001fmr.2,p.S694R|uc001fmu.2,p.S766R	protein_coding, processed_transcript	uc001fmu.2	nonsynonymous SNV	exon21	c.C2298G	p.S766R	GSIELCRADSDSSQRDRNGNQLRSP	GSIELCRADSDSRQRDRNGNQLRSP	10.0	5.0	unscreened	-	4240_1:155921716-155921716 G>C_GSIELCRADSDSRQRDRNGNQLRSP
18:44775488-44775488 G>C	0.0	4240	BREAST	-	-	-	-	SKOR2	ENST00000425639,p.P23A|uc010dnt.2,p.P23A|ENST00000400404,p.P23A|uc031rif.1,p.P23A|NM_001278063,p.P23A|NM_001037802,p.P23A	protein_coding	uc031rif.1	nonsynonymous SNV	exon1	c.C67G	p.P23A	DILLASPSSAFQPDTLSQPRPGHAN	DILLASPSSAFQADTLSQPRPGHAN	1.0	2.0	unscreened	-	4240_18:44775488-44775488 G>C_DILLASPSSAFQADTLSQPRPGHAN
16:88870316-88870316 C>A	1.0	4240	BREAST	-	-	-	-	CDT1	NM_030928,p.A26D|ENST00000301019,p.A26D|uc002flu.3,p.A26D	retained_intron, protein_coding	uc002flu.3	nonsynonymous SNV	exon1	c.C77A	p.A26D	RPGPPRIAPPKLACRTPSPARPALR	RPGPPRIAPPKLDCRTPSPARPALR	8.0	2.0	unscreened	-	4240_16:88870316-88870316 C>A_RPGPPRIAPPKLDCRTPSPARPALR
5:74096829-74096829 G>C	0.0	4240	BREAST	-	-	-	-	FAM169A	uc003kdm.4,p.H327D|NM_015566,p.H327D|ENST00000510496,p.H267D|uc003kdl.4,p.H145D|uc010izm.3,p.H267D|ENST00000389156,p.H327D	protein_coding, nonsense_mediated_decay	uc010izm.3	nonsynonymous SNV	exon10	c.C799G	p.H267D	TSEGHDKTSVSTHTRSGNLKRPKIG	TSEGHDKTSVSTDTRSGNLKRPKIG	4.0	1.0	unscreened	-	4240_5:74096829-74096829 G>C_TSEGHDKTSVSTDTRSGNLKRPKIG
15:83224680-83224680 C>T	0.0	4240	BREAST	0.0005	-	-	-	CPEB1	ENST00000261723,p.E270K|NM_001079535,p.E192K|ENST00000563800,p.E294K|ENST00000423133,p.E192K|ENST00000568757,p.E192K|uc002bit.3,p.E327K|ENST00000398592,p.E41K|ENST00000398591,p.E192K|ENST00000564522,p.E192K|uc010uod.2,p.E41K|NM_001288819,p.E192K|uc002bip.3,p.E41K|uc002biu.3,p.E294K|ENST00000450751,p.E192K|uc002bis.3,p.E192K|NM_001079534,p.E192K|uc002biq.3,p.E192K|NM_001079533,p.E192K|NM_030594,p.E267K|uc002biv.3,p.E267K|uc002bir.3,p.E192K|uc010uoe.2,p.E270K|ENST00000562019,p.E267K|NM_001288820,p.E41K|ENST00000568128,p.E267K|uc010uof.2,p.E192K	retained_intron, protein_coding, nonsense_mediated_decay, processed_transcript	uc010uof.2	nonsynonymous SNV	exon5	c.G574A	p.E192K	PGASVWPSWDLLEAPKDPFSIEREA	PGASVWPSWDLLKAPKDPFSIEREA	2.0	4.0	unscreened	-	4240_15:83224680-83224680 C>T_PGASVWPSWDLLKAPKDPFSIEREA
2:20838308-20838308 C>G	0.0	4240	BREAST	-	-	-	-	HS1BP3	NM_022460,p.E171Q|uc002rdw.1,p.E171Q|ENST00000304031,p.E171Q|uc002rdx.3,p.E171Q|ENST00000402541,p.E171Q	protein_coding, nonsense_mediated_decay	uc002rdx.3	nonsynonymous SNV	exon4	c.G511C	p.E171Q	QTGNDEEAFDFFEEQDQVAEEGPPV	QTGNDEEAFDFFQEQDQVAEEGPPV	7.0	1.0	unscreened	-	4240_2:20838308-20838308 C>G_QTGNDEEAFDFFQEQDQVAEEGPPV
19:55420645-55420645 G>A	0.0	4240	BREAST	0.0009	-	-	-	NCR1	uc002qid.2,p.E38K|NM_001242356,p.E38K|NM_001145458,p.E133K|NM_004829,p.E133K|ENST00000598576,p.E121K|uc010esj.2,p.E26K|uc002qic.2,p.E133K|ENST00000338835,p.E133K|uc002qie.2,p.E133K|NM_001145457,p.E133K|ENST00000357397,p.E26K|ENST00000350790,p.E38K|uc002qif.2,p.E38K|ENST00000291890,p.E133K|uc002qib.2,p.E133K|ENST00000594765,p.E133K|ENST00000447255,p.E133K|NM_001242357,p.E38K	retained_intron, protein_coding	uc010esj.2	nonsynonymous SNV	exon2	c.G76A	p.E26K	YDTPTLSVHPGPEVISGEKVTFYCR	YDTPTLSVHPGPKVISGEKVTFYCR	1.0	5.0	-	-	4240_19:55420645-55420645 G>A_YDTPTLSVHPGPKVISGEKVTFYCR
21:47542443-47542443 G>A	0.0	4240	BREAST	0.0009	-	-	-	COL6A2	uc002zhy.1,p.E536K|NM_001849,p.E536K|ENST00000310645,p.E536K|NM_058175,p.E536K|ENST00000413758,p.E77K|ENST00000357838,p.E536K|ENST00000300527,p.E536K|uc002zia.1,p.E536K|ENST00000409416,p.E536K|NM_058174,p.E536K|ENST00000397763,p.E536K|uc002zhz.1,p.E536K	retained_intron, protein_coding, processed_transcript	uc002zia.1	nonsynonymous SNV	exon20	c.G1606A	p.E536K	PGEKGEPGPRGPEGGRGDFGLKGEP	PGEKGEPGPRGPKGGRGDFGLKGEP	8.0	5.0	unscreened	-	4240_21:47542443-47542443 G>A_PGEKGEPGPRGPKGGRGDFGLKGEP
3:57321938-57321938 G>A	0.0	4240	BREAST	-	-	-	-	ASB14	ENST00000389601,p.L155F|ENST00000487349,p.L154F|NM_001142733,p.L154F|uc021wzs.1,p.L154F	retained_intron, protein_coding	uc021wzs.1	nonsynonymous SNV	exon4	c.C460T	p.L154F	NPNAKNFEGNSPLLAAVLRDCYDMA	NPNAKNFEGNSPFLAAVLRDCYDMA	3.0	1.0	unscreened	-	4240_3:57321938-57321938 G>A_NPNAKNFEGNSPFLAAVLRDCYDMA
12:18544162-18544162 T>G	0.0	4240	BREAST	-	-	-	-	PIK3C2G	ENST00000538779,p.L701R|NM_001288772,p.L701R|uc001rdt.3,p.L660R|uc010sic.2,p.L479R|ENST00000433979,p.L660R|NM_001288774,p.L479R|uc010sib.2,p.L701R|ENST00000266497,p.L660R|NM_004570,p.L660R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010sic.2	nonsynonymous SNV	exon14	c.T1436G	p.L479R	EPLKECIKHIARLSQKQTPLLLSEE	EPLKECIKHIARRSQKQTPLLLSEE	4.0	4.0	unscreened	-	4240_12:18544162-18544162 T>G_EPLKECIKHIARRSQKQTPLLLSEE
5:140774045-140774045 G>C	0.0	4240	BREAST	-	-	-	-	PCDHGA8	NM_014004,p.Q555H|NM_032088,p.Q555H|uc003lkb.4,p.Q555H|ENST00000398604,p.Q555H|uc003lkd.2,p.Q555H	protein_coding	uc003lkd.2	nonsynonymous SNV	exon1	c.G1665C	p.Q555H	SSNMSLSLFVLDQNDNAPEILYPAL	SSNMSLSLFVLDHNDNAPEILYPAL	4.0	2.0	-	-	4240_5:140774045-140774045 G>C_SSNMSLSLFVLDHNDNAPEILYPAL
13:79175661-79175661 C>G	0.0	4240	BREAST	-	-	-	-	POU4F1	NM_006237,p.E383D|ENST00000377208,p.E383D|uc001vkv.3,p.E383D	protein_coding	uc001vkv.3	nonsynonymous SNV	exon2	c.G1149C	p.E383D	EAYFAVQPRPSSEKIAAIAEKLDLK	EAYFAVQPRPSSDKIAAIAEKLDLK	1.0	3.0	unscreened	-	4240_13:79175661-79175661 C>G_EAYFAVQPRPSSDKIAAIAEKLDLK
11:11964506-11964506 G>A	1.0	4240	BREAST	-	-	-	-	USP47	ENST00000399455,p.E1000K|uc001mjr.3,p.E912K|ENST00000339865,p.E912K|uc001mjs.3,p.E980K|ENST00000527733,p.E980K|NM_001282659,p.E980K|uc001mjq.1,p.E1000K|NM_017944,p.E912K|uc001mjt.1,p.E286K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001mjt.1	nonsynonymous SNV	exon3	c.G856A	p.E286K	HSITSSRRTKANEGKKETWDTAEED	HSITSSRRTKANKGKKETWDTAEED	10.0	5.0	unscreened	-	4240_11:11964506-11964506 G>A_HSITSSRRTKANKGKKETWDTAEED
5:140865396-140865396 A>T	0.0	4240	BREAST	-	-	-	-	PCDHGC4	NM_032406,p.N219I|ENST00000306593,p.N219I|NM_018928,p.N219I|uc011dbb.2,p.N219I|uc003lky.2,p.N219I	protein_coding	uc011dbb.2	nonsynonymous SNV	exon1	c.A656T	p.N219I	DYRLVLTAVDGGNPPRSGTAELRVS	DYRLVLTAVDGGIPPRSGTAELRVS	4.0	4.0	unscreened	-	4240_5:140865396-140865396 A>T_DYRLVLTAVDGGIPPRSGTAELRVS
2:176982214-176982214 G>C	0.0	4240	BREAST	-	-	-	-	HOXD10	uc002ukj.3,p.S218T|NM_002148,p.S218T|ENST00000249501,p.S218T	protein_coding, processed_transcript	uc002ukj.3	nonsynonymous SNV	exon1	c.G653C	p.S218T	SGQEPTKVSQVESPEAKGGLPEERS	SGQEPTKVSQVETPEAKGGLPEERS	1.0	6.0	unscreened	-	4240_2:176982214-176982214 G>C_SGQEPTKVSQVETPEAKGGLPEERS
1:230561503-230561503 C>T	0.0	4240	BREAST	-	-	-	-	PGBD5	NM_001258311,p.A58T|uc031psq.1,p.A58T	protein_coding, processed_transcript	uc031psq.1	nonsynonymous SNV	exon1	c.G172A	p.A58T	YSTSAASRSSSAASSDDEREPPGPP	YSTSAASRSSSATSSDDEREPPGPP	4.0	6.0	unscreened	-	4240_1:230561503-230561503 C>T_YSTSAASRSSSATSSDDEREPPGPP
16:1129781-1129781 G>T	0.0	4240	BREAST	-	-	-	-	SSTR5	ENST00000293897,p.G305C|NM_001172560,p.G305C|ENST00000397547,p.G305C|NM_001053,p.G305C|uc021taf.1,p.G305C|uc002ckq.3,p.G305C	protein_coding	uc021taf.1	nonsynonymous SNV	exon2	c.G913T	p.G305C	SYANSCANPVLYGFLSDNFRQSFQK	SYANSCANPVLYCFLSDNFRQSFQK	1.0	1.0	unscreened	-	4240_16:1129781-1129781 G>T_SYANSCANPVLYCFLSDNFRQSFQK
6:35480010-35480010 G>A	0.0	4240	BREAST	-	-	-	-	TULP1	uc003okw.4,p.T46M|uc021yyx.1,p.T46M|NM_003322,p.T46M|NM_001289395,p.T46M|ENST00000322263,p.T46M|ENST00000229771,p.T46M|ENST00000428978,p.T46M|uc003okv.4,p.T46M|uc021yyy.1,p.T46M	retained_intron, protein_coding	uc021yyy.1	nonsynonymous SNV	exon3	c.C137T	p.T46M	RPAPAQRLRKKRTEAPESPCPTGSK	RPAPAQRLRKKRMEAPESPCPTGSK	1.0	4.0	unscreened	-	4240_6:35480010-35480010 G>A_RPAPAQRLRKKRMEAPESPCPTGSK
1:241936231-241936231 G>A	0.0	4240	BREAST	-	-	-	-	WDR64	ENST00000366552,p.E800K|uc001hzg.2,p.E800K|NM_144625,p.E800K|ENST00000472717,p.E359K	protein_coding, processed_transcript, nonsense_mediated_decay	uc001hzg.2	nonsynonymous SNV	exon19	c.G2398A	p.E800K	AHEDGHLRLWTLEGRLLKDMLPFTK	AHEDGHLRLWTLKGRLLKDMLPFTK	1.0	2.0	unscreened	-	4240_1:241936231-241936231 G>A_AHEDGHLRLWTLKGRLLKDMLPFTK
19:19649220-19649220 G>A	0.0	4240	BREAST	-	-	-	-	CILP2	ENST00000291495,p.R21Q|ENST00000586018,p.R21Q|NM_153221,p.R21Q|uc002nmw.4,p.R21Q|uc002nmv.4,p.R21Q	retained_intron, protein_coding	uc002nmw.4	nonsynonymous SNV	exon1	c.G62A	p.R21Q	CLCVVAAHLAGARDATPTEEPMATA	CLCVVAAHLAGAQDATPTEEPMATA	3.0	5.0	unscreened	-	4240_19:19649220-19649220 G>A_CLCVVAAHLAGAQDATPTEEPMATA
7:48134391-48134391 C>T	0.0	4240	BREAST	0.0023	-	-	-	UPP1	ENST00000417464,p.T4M|ENST00000395560,p.T4M|ENST00000457596,p.T4M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000457596	nonsynonymous SNV	exon4	c.C11T	p.T4M	MAATGANAEKAESHKS	MAAMGANAEKAESHKS	6.0	4.0	unscreened	-	4240_7:48134391-48134391 C>T_MAAMGANAEKAESHKS
19:4054657-4054657 C>T	0.0	4240	BREAST	-	-	-	-	ZBTB7A	ENST00000322357,p.D192N|uc002lzh.3,p.D192N|NM_015898,p.D192N|ENST00000601588,p.D192N|uc002lzi.3,p.D192N	protein_coding	uc002lzi.3	nonsynonymous SNV	exon2	c.G574A	p.D192N	AASFPWSAFGASDDDLDATKEAVAA	AASFPWSAFGASNDDLDATKEAVAA	9.0	2.0	unscreened	-	4240_19:4054657-4054657 C>T_AASFPWSAFGASNDDLDATKEAVAA
15:101791526-101791526 C>T	0.0	4240	BREAST	-	-	-	-	CHSY1	ENST00000254190,p.E46K|uc021sxt.1,p.E46K|NM_014918,p.E46K	protein_coding, processed_transcript	uc021sxt.1	nonsynonymous SNV	exon1	c.G136A	p.E46K	LKRAGPRRRASPEGCRSGQAAASQA	LKRAGPRRRASPKGCRSGQAAASQA	8.0	3.0	unscreened	-	4240_15:101791526-101791526 C>T_LKRAGPRRRASPKGCRSGQAAASQA
7:48134391-48134391 C>T	0.0	4240	BREAST	0.0023	-	-	-	UPP1	ENST00000436673,p.T4M|NM_003364,p.T4M|uc011kcg.1,p.T4M|ENST00000432131,p.T4M|ENST00000444999,p.T4M|ENST00000421046,p.T4M|ENST00000395564,p.T4M|NM_001287426,p.T4M|uc003toj.3,p.T4M|ENST00000341253,p.T4M|uc003tok.3,p.T4M|uc003tol.3,p.T4M|ENST00000416681,p.T4M|ENST00000331803,p.T4M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kcg.1	nonsynonymous SNV	exon3	c.C11T	p.T4M	MAATGANAEKAESHND	MAAMGANAEKAESHND	6.0	4.0	unscreened	-	4240_7:48134391-48134391 C>T_MAAMGANAEKAESHND
1:158609420-158609420 G>C	0.0	4240	BREAST	-	-	-	-	SPTA1	ENST00000368147,p.N1644K|NM_003126,p.N1644K|uc001fst.1,p.N1644K|ENST00000368148,p.N1644K	protein_coding, processed_transcript	uc001fst.1	nonsynonymous SNV	exon35	c.C4932G	p.N1644K	MKDQARDLASAGNLLKKHQLLEREM	MKDQARDLASAGKLLKKHQLLEREM	3.0	2.0	unscreened	-	4240_1:158609420-158609420 G>C_MKDQARDLASAGKLLKKHQLLEREM
15:65108141-65108141 C>G	0.0	4240	BREAST	-	-	-	-	PIF1	ENST00000333425,p.E625Q|NM_001286497,p.E625Q	retained_intron, protein_coding	NM_001286497	nonsynonymous SNV	exon13	c.G1873C	p.E625Q	TLRRGRSLSLAAEGRGNEDRCSGSS	TLRRGRSLSLAAQGRGNEDRCSGSS	7.0	5.0	unscreened	-	4240_15:65108141-65108141 C>G_TLRRGRSLSLAAQGRGNEDRCSGSS
8:65494014-65494014 ->GCGGCAGCG	0.0	4240	BREAST	-	-	-	-	BHLHE22	uc003xvi.3,p.S223delinsSGSG|ENST00000321870,p.S223delinsSGSG|NM_152414,p.S223delinsSGSG	protein_coding	uc003xvi.3	nonframeshift insertion	exon1	c.667_668insGCGGCAGCG	p.S223delinsSGSG	GSSGGGGGSGSGSGGSSSSSSSSSK	GSSGGGGGSGSGSGSGGGSSSSSSS	2.0	5.0	unscreened	-	4240_8:65494014-65494014 ->GCGGCAGCG_GSSGGGGGSGSGSGSGGGSSSSSSS
X:138630552-138630552 G>T	0.0	4240	BREAST	-	-	-	-	F9	ENST00000394090,p.C103F|uc004fat.1,p.C103F	protein_coding, processed_transcript	uc004fat.1	nonsynonymous SNV	exon4	c.G308T	p.C103F	YVDVTCNIKNGRCEQFCKNSADNKV	YVDVTCNIKNGRFEQFCKNSADNKV	5.0	3.0	unscreened	-	4240_X:138630552-138630552 G>T_YVDVTCNIKNGRFEQFCKNSADNKV
X:138630552-138630552 G>T	0.0	4240	BREAST	-	-	-	-	F9	ENST00000218099,p.C141F|uc004fas.1,p.C141F|NM_000133,p.C141F	protein_coding, processed_transcript	uc004fas.1	nonsynonymous SNV	exon5	c.G422T	p.C141F	ELDVTCNIKNGRCEQFCKNSADNKV	ELDVTCNIKNGRFEQFCKNSADNKV	5.0	3.0	unscreened	-	4240_X:138630552-138630552 G>T_ELDVTCNIKNGRFEQFCKNSADNKV
20:50048879-50048879 G>C	0.0	4240	BREAST	-	-	-	1	NFATC2	uc002xwd.4,p.T816S|NM_001258294,p.T597S|NM_001258295,p.T597S|NM_001258292,p.T796S|uc010zyz.3,p.T597S|uc010zyw.3,p.T597S|NM_173091,p.T816S|uc002xwe.4,p.T796S|NM_001258296,p.T597S|uc010zyx.3,p.T796S|NM_012340,p.T816S|uc010zyv.3,p.T597S|NM_001258297,p.T597S|NM_001136021,p.T796S|ENST00000414705,p.T796S|ENST00000396009,p.T816S|ENST00000371564,p.T816S|uc002xwc.4,p.T816S|uc010zyy.3,p.T597S	retained_intron, protein_coding	uc010zyz.3	nonsynonymous SNV	exon9	c.C1790G	p.T597S	NQQASPVIHYSPTNQQLRCGSHQEF	NQQASPVIHYSPSNQQLRCGSHQEF	6.0	1.0	unscreened	-	4240_20:50048879-50048879 G>C_NQQASPVIHYSPSNQQLRCGSHQEF
20:37536462-37536462 G>C	0.0	4240	BREAST	-	-	-	-	PPP1R16B	uc010ggc.3,p.E262D|NM_001172735,p.E262D|NM_015568,p.E304D|ENST00000299824,p.E304D|uc002xje.3,p.E304D|ENST00000373331,p.E262D	protein_coding, processed_transcript	uc010ggc.3	nonsynonymous SNV	exon8	c.G786C	p.E262D	TSMDEMPIDLCEEEEFKVLLLELKH	TSMDEMPIDLCEDEEFKVLLLELKH	3.0	1.0	unscreened	-	4240_20:37536462-37536462 G>C_TSMDEMPIDLCEDEEFKVLLLELKH
16:50338284-50338284 C>A	0.0	4240	BREAST	-	-	-	-	ADCY7	uc002egb.1,p.P461H|uc002egd.1,p.P461H|ENST00000567277,p.P461H|uc002egc.2,p.P461H|NM_001286057,p.P461H|ENST00000254235,p.P461H|NM_001114,p.P461H|ENST00000394697,p.P461H|ENST00000566433,p.P461H|ENST00000538642,p.P461H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002egd.1	nonsynonymous SNV	exon10	c.C1382A	p.P461H	TYLVIDPRSQQPPPPSQHLPRPKGD	TYLVIDPRSQQPHPPSQHLPRPKGD	5.0	2.0	unscreened	-	4240_16:50338284-50338284 C>A_TYLVIDPRSQQPHPPSQHLPRPKGD
6:30997107-30997107 C>A	0.0	4240	BREAST	-	-	-	-	MUC22	ENST00000561890,p.T1300N|uc021yug.1,p.T1300N|uc021yuh.1,p.T1303N|NM_001198815,p.T1300N	protein_coding	uc021yuh.1	nonsynonymous SNV	exon3	c.C3908A	p.T1303N	VTTAGSETTAVYTTGSETTTTSTEG	VTTAGSETTAVYNTGSETTTTSTEG	1.0	1.0	unscreened	-	4240_6:30997107-30997107 C>A_VTTAGSETTAVYNTGSETTTTSTEG
16:86544180-86544180 C>G	0.0	4240	BREAST	-	-	-	-	FOXF1	uc002fjl.3,p.S2C|NM_001451,p.S2C|ENST00000262426,p.S2C	protein_coding	uc002fjl.3	nonsynonymous SNV	exon1	c.C5G	p.S2C	MSSAPEKQQPPHGG	MCSAPEKQQPPHGG	4.0	1.0	unscreened	-	4240_16:86544180-86544180 C>G_MCSAPEKQQPPHGG
22:42003850-42003850 C>G	1.0	4244	COLON	-	-	-	-	DESI1	ENST00000263256,p.G35A|NM_015704,p.G35A|uc003bam.2,p.G35A	retained_intron, protein_coding, processed_transcript	uc003bam.2	nonsynonymous SNV	exon2	c.G104C	p.G35A	RLSPIMLGKQLEGIWHTSIVVHKDE	RLSPIMLGKQLEAIWHTSIVVHKDE	9.0	7.0	-	-	4244_22:42003850-42003850 C>G_RLSPIMLGKQLEAIWHTSIVVHKDE
8:25182901-25182901 G>C	1.0	4244	COLON	-	-	-	-	DOCK5	NM_024940,p.D581H|uc003xeg.3,p.D581H|ENST00000276440,p.D581H|uc003xeh.1,p.D295H|uc003xei.3,p.D151H	retained_intron, protein_coding, nonsense_mediated_decay	uc003xei.3	nonsynonymous SNV	exon6	c.G451C	p.D151H	LVVYKGDNKKMEDAKFYLTLPGTKM	LVVYKGDNKKMEHAKFYLTLPGTKM	8.0	5.0	-	-	4244_8:25182901-25182901 G>C_LVVYKGDNKKMEHAKFYLTLPGTKM
8:95262609-95262609 C>T	1.0	4244	COLON	-	-	-	-	GEM	ENST00000396194,p.V274M|ENST00000297596,p.V274M|uc003ygi.3,p.V274M|NM_181702,p.V274M|uc003ygj.3,p.V274M|NM_005261,p.V274M	retained_intron, protein_coding	uc003ygj.3	nonsynonymous SNV	exon5	c.G820A	p.V274M	MPRKARRFWGKIVAKNNKNMAFKLK	MPRKARRFWGKIMAKNNKNMAFKLK	8.0	9.0	-	-	4244_8:95262609-95262609 C>T_MPRKARRFWGKIMAKNNKNMAFKLK
2:33572443-33572443 A>T	1.0	4244	COLON	-	-	-	-	LTBP1	ENST00000422669,p.E125V|NM_001166264,p.E921V|uc010ymz.2,p.E921V|ENST00000418533,p.E921V|uc010ynb.2,p.E187V|NM_001166266,p.E868V|ENST00000272273,p.E187V|uc010yna.2,p.E868V	protein_coding, processed_transcript	uc010ynb.2	nonsynonymous SNV	exon7	c.A560T	p.E187V	ISADGRTCEDVNECELLSGVCGEAF	ISADGRTCEDVNVCELLSGVCGEAF	9.0	9.0	-	-	4244_2:33572443-33572443 A>T_ISADGRTCEDVNVCELLSGVCGEAF
3:178921553-178921553 T>A	1.0	4244	COLON	-	-	ID=COSM754,COSM132748;OCCURENCE=1(lung),5(central_nervous_system),1(stomach),44(breast),4(large_intestine),1(prostate),2(urinary_tract),5(endometrium),1(salivary_gland)	1	PIK3CA	ENST00000263967,p.N345K|NM_006218,p.N345K|uc003fjk.3,p.N345K	retained_intron, protein_coding	uc003fjk.3	nonsynonymous SNV	exon5	c.T1035A	p.N345K	ALRIKILCATYVNVNIRDIDKIYVR	ALRIKILCATYVKVNIRDIDKIYVR	6.0	10.0	-	-	4244_3:178921553-178921553 T>A_ALRIKILCATYVKVNIRDIDKIYVR
13:21965968-21965968 T>G	1.0	4244	COLON	-	-	-	-	ZDHHC20	NM_001286638,p.K144T|ENST00000320220,p.K207T|uc001uoa.2,p.K207T|uc010tcs.2,p.K144T|NM_153251,p.K207T|ENST00000400590,p.K207T|ENST00000542645,p.K144T|ENST00000382466,p.K207T|ENST00000415724,p.K207T	protein_coding, processed_transcript	uc010tcs.2	nonsynonymous SNV	exon7	c.A431C	p.K144T	KFWTNELTDTRAKFHVLFLFFVSAM	KFWTNELTDTRATFHVLFLFFVSAM	8.0	10.0	-	-	4244_13:21965968-21965968 T>G_KFWTNELTDTRATFHVLFLFFVSAM
3:168845652-168845652 T>G	1.0	4244	COLON	-	-	-	1	MECOM	uc010hwn.2,p.Q270H|uc003ffi.3,p.Q82H|ENST00000468789,p.Q82H|uc003ffm.1,p.Q146H|ENST00000492586,p.Q57H|NM_001105077,p.Q146H|NM_001205194,p.Q82H|uc010hwk.1,p.Q105H|NM_004991,p.Q270H|NM_001164000,p.Q82H|ENST00000487503,p.Q82H|ENST00000460814,p.Q82H|ENST00000264674,p.Q146H|ENST00000460890,p.Q82H|uc011bpi.1,p.Q82H|ENST00000433243,p.Q82H|uc003ffn.3,p.Q82H|uc003ffj.3,p.Q146H|uc011bpj.1,p.Q270H|ENST00000494292,p.Q270H|ENST00000472280,p.Q82H|ENST00000464456,p.Q82H|NM_001105078,p.Q82H|ENST00000392736,p.Q82H|ENST00000484519,p.Q82H|NM_005241,p.Q82H|NM_001163999,p.Q82H|ENST00000494597,p.Q82H|uc003ffl.2,p.Q242H|uc003ffk.2,p.Q82H|uc011bpk.1,p.Q82H	retained_intron, protein_coding, processed_transcript	uc011bpk.1	nonsynonymous SNV	exon4	c.A246C	p.Q82H	EIHTIQECKECDQVFPDLQSLEKHM	EIHTIQECKECDHVFPDLQSLEKHM	9.0	5.0	-	-	4244_3:168845652-168845652 T>G_EIHTIQECKECDHVFPDLQSLEKHM
22:50656407-50656407 A>C	1.0	4244	COLON	-	-	-	-	TUBGCP6	NM_020461,p.F1770V|uc003bkb.1,p.F1770V|ENST00000425018,p.F439V|uc010har.1,p.F1762V|uc003bka.1,p.F840V|ENST00000248846,p.F1770V	retained_intron, protein_coding, processed_transcript	uc010har.1	nonsynonymous SNV	exon24	c.T5284G	p.F1762V	PPGGPRGAEHPNFALMQQSYNTFKY	PPGGPRGAEHPNVALMQQSYNTFKY	9.0	2.0	-	-	4244_22:50656407-50656407 A>C_PPGGPRGAEHPNVALMQQSYNTFKY
2:26501592-26501592 G>C	1.0	4244	COLON	-	-	ID=COSM1306644;OCCURENCE=1(urinary_tract)	-	HADHB	NM_000183,p.D185H|NM_001281513,p.D163H|ENST00000537713,p.D170H|uc002rgz.3,p.D185H|uc010ykx.2,p.D111H|uc010ykw.2,p.D170H|ENST00000545822,p.D163H|uc010ykv.2,p.D163H|ENST00000317799,p.D185H|NM_001281512,p.D170H	retained_intron, protein_coding, processed_transcript	uc010ykx.2	nonsynonymous SNV	exon4	c.G331C	p.D111H	IRHSRKMRKLMLDLNKAKSMGQRLS	IRHSRKMRKLMLHLNKAKSMGQRLS	10.0	4.0	-	-	4244_2:26501592-26501592 G>C_IRHSRKMRKLMLHLNKAKSMGQRLS
2:97877433-97877433 C>T	1.0	4244	COLON	-	-	-	-	ANKRD36	uc010yva.2,p.P1142S|NM_001164315,p.P1142S|ENST00000420699,p.P1142S|ENST00000461153,p.P1142S	retained_intron, protein_coding	uc010yva.2	nonsynonymous SNV	exon58	c.C3424T	p.P1142S	ALKAICDKEDSVPNMATEKKDEQIS	ALKAICDKEDSVSNMATEKKDEQIS	8.0	8.0	-	-	4244_2:97877433-97877433 C>T_ALKAICDKEDSVSNMATEKKDEQIS
5:64814439-64814439 C>G	1.0	4244	COLON	-	-	-	-	CENPK	ENST00000242872,p.D225H|uc003jts.3,p.D225H|uc003jtu.3,p.D225H|ENST00000508421,p.D195H|ENST00000510693,p.D162H|NM_001267038,p.D225H|ENST00000514814,p.D225H|NM_022145,p.D225H|ENST00000396679,p.D225H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jtu.3	nonsynonymous SNV	exon11	c.G673C	p.D225H	HEMLEILINRLFDVPHDPYVKISDS	HEMLEILINRLFHVPHDPYVKISDS	8.0	3.0	-	-	4244_5:64814439-64814439 C>G_HEMLEILINRLFHVPHDPYVKISDS
14:53513647-53513647 C>G	1.0	4244	COLON	-	-	-	-	DDHD1	ENST00000323669,p.D848H|uc001xai.3,p.D848H|NM_001160148,p.D848H	retained_intron, protein_coding, processed_transcript	uc001xai.3	nonsynonymous SNV	exon13	c.G2542C	p.D848H	KDNALVELDHRIDFELREGLVESRY	KDNALVELDHRIHFELREGLVESRY	6.0	1.0	-	-	4244_14:53513647-53513647 C>G_KDNALVELDHRIHFELREGLVESRY
14:53513647-53513647 C>G	1.0	4244	COLON	-	-	-	-	DDHD1	uc001xag.3,p.D402H|ENST00000357758,p.D820H|NM_030637,p.D820H|NM_001160147,p.D827H|uc001xaj.3,p.D827H|ENST00000395606,p.D827H|uc001xah.3,p.D820H	retained_intron, protein_coding, processed_transcript	uc001xaj.3	nonsynonymous SNV	exon13	c.G2479C	p.D827H	FLDSALELDHRIDFELREGLVESRY	FLDSALELDHRIHFELREGLVESRY	6.0	1.0	-	-	4244_14:53513647-53513647 C>G_FLDSALELDHRIHFELREGLVESRY
10:128594114-128594114 G>A	1.0	4244	COLON	-	-	-	-	DOCK1	ENST00000280333,p.E10K|uc001ljt.3,p.E10K|NM_001380,p.E10K|uc010qun.2,p.E10K|NM_001290223,p.E10K	protein_coding, processed_transcript	uc010qun.2	nonsynonymous SNV	exon1	c.G28A	p.E10K	MTRWVPTKREEKYGVAFYNYDA	MTRWVPTKRKEKYGVAFYNYDA	8.0	8.0	-	-	4244_10:128594114-128594114 G>A_MTRWVPTKRKEKYGVAFYNYDA
9:95077874-95077874 C>T	1.0	4244	COLON	-	-	-	-	NOL8	ENST00000535387,p.V345I|ENST00000433029,p.V345I|uc022bjw.1,p.V277I|ENST00000545558,p.V345I|ENST00000544867,p.V345I|ENST00000542053,p.V277I|ENST00000358855,p.V277I|NM_001256394,p.V277I|ENST00000432670,p.V345I|ENST00000442668,p.V345I|NM_017948,p.V345I|uc022bjx.1,p.V345I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022bjx.1	nonsynonymous SNV	exon7	c.G1033A	p.V345I	PFEVVRDDFKSGVHKLHSLIGLGIK	PFEVVRDDFKSGIHKLHSLIGLGIK	10.0	9.0	-	-	4244_9:95077874-95077874 C>T_PFEVVRDDFKSGIHKLHSLIGLGIK
3:183645156-183645156 G>A	1.0	4244	COLON	-	-	-	-	ABCC5	uc010hxl.3,p.L1294F|ENST00000265586,p.L1294F|uc003fmg.3,p.L1337F|ENST00000334444,p.L1337F|uc011bqt.2,p.L865F|NM_005688,p.L1337F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bqt.2	nonsynonymous SNV	exon27	c.C2593T	p.L865F	ENGDNFSVGERQLLCIARALLRHCK	ENGDNFSVGERQFLCIARALLRHCK	8.0	7.0	-	-	4244_3:183645156-183645156 G>A_ENGDNFSVGERQFLCIARALLRHCK
16:75269266-75269266 C>T	1.0	4244	COLON	-	-	ID=COSM1184533,COSM1184532,COSM1184531;OCCURENCE=1(large_intestine)	-	BCAR1	ENST00000418647,p.V557I|uc010vnd.2,p.V529I|uc002fdv.3,p.V511I|ENST00000538440,p.V511I|ENST00000546196,p.V482I|uc002fdw.3,p.V511I|NM_001170715,p.V529I|ENST00000420641,p.V529I|NM_001170714,p.V557I|NM_001170721,p.V301I|uc010cgu.3,p.V529I|NM_001170720,p.V363I|ENST00000535626,p.V363I|NM_001170718,p.V511I|ENST00000162330,p.V511I|uc010vna.2,p.V509I|uc010vnb.2,p.V557I|ENST00000393420,p.V529I|uc010vnc.2,p.V363I|NM_014567,p.V511I|uc002fdx.3,p.V529I|uc002fdu.3,p.V301I|NM_001170716,p.V529I|NM_001170719,p.V509I|ENST00000393422,p.V529I|NM_001170717,p.V529I|ENST00000542031,p.V509I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vnd.2	nonsynonymous SNV	exon5	c.G1585A	p.V529I	PLVQDLQAAVAAVQSAVHELLEFAR	PLVQDLQAAVAAIQSAVHELLEFAR	9.0	8.0	-	-	4244_16:75269266-75269266 C>T_PLVQDLQAAVAAIQSAVHELLEFAR
17:40849754-40849754 G>A	1.0	4244	COLON	-	-	-	-	CNTNAP1	uc002iay.3,p.G1251R|NM_003632,p.G1251R|ENST00000264638,p.G1251R	retained_intron, protein_coding, nonsense_mediated_decay	uc002iay.3	nonsynonymous SNV	exon22	c.G3751A	p.G1251R	LRVQGELSESNCGAMPRLVSEVPPE	LRVQGELSESNCRAMPRLVSEVPPE	6.0	10.0	-	-	4244_17:40849754-40849754 G>A_LRVQGELSESNCRAMPRLVSEVPPE
2:55749285-55749285 C>G	1.0	4244	COLON	-	-	-	-	CFAP36	NM_080667,p.Q55E|uc002ryy.2,p.Q55E|ENST00000407816,p.Q55E|ENST00000403007,p.Q55E|ENST00000339012,p.Q80E|uc002ryx.2,p.Q80E|NM_001282761,p.Q80E|ENST00000406691,p.Q55E|ENST00000349456,p.Q55E	retained_intron, protein_coding, processed_transcript	uc002ryy.2	nonsynonymous SNV	exon2	c.C163G	p.Q55E	EEESKLTYTEIHQEYKELVEKLLEG	EEESKLTYTEIHEEYKELVEKLLEG	10.0	4.0	-	-	4244_2:55749285-55749285 C>G_EEESKLTYTEIHEEYKELVEKLLEG
3:100065086-100065086 C>G	1.0	4244	COLON	-	-	-	-	NIT2	ENST00000394140,p.I164M|uc003dtv.3,p.I164M|NM_020202,p.I164M	retained_intron, protein_coding, nonsense_mediated_decay	uc003dtv.3	nonsynonymous SNV	exon6	c.C492G	p.I164M	ICYDMRFAELAQIYAQRGCQLLVYP	ICYDMRFAELAQMYAQRGCQLLVYP	10.0	4.0	-	-	4244_3:100065086-100065086 C>G_ICYDMRFAELAQMYAQRGCQLLVYP
10:5769075-5769075 C>T	1.0	4244	COLON	-	-	-	-	FAM208B	NM_017782,p.P159L|ENST00000328090,p.P159L|uc001iij.3,p.P159L	retained_intron, protein_coding, processed_transcript	uc001iij.3	nonsynonymous SNV	exon10	c.C476T	p.P159L	QMGLHGLHLFRSPLSTGVKDLKVED	QMGLHGLHLFRSLLSTGVKDLKVED	9.0	9.0	-	-	4244_10:5769075-5769075 C>T_QMGLHGLHLFRSLLSTGVKDLKVED
7:140453136-140453136 A>T	1.0	4244	COLON	-	-	ID=COSM476;OCCURENCE=3(adrenal_gland),3(urinary_tract),4(genital_tract),7(pancreas),16(liver),68(eye),2(prostate),4161(large_intestine),21(biliary_tract),11(breast),4377(skin),9(small_intestine),1(autonomic_ganglia),20(pituitary),242(ovary),32(soft_tissue),7(testis),459(haematopoietic_and_lymphoid_tissue),9534(thyroid),78(lung),1(meninges),12(upper_aerodigestive_tract),717(NS),15(bone),2(oesophagus),4(stomach),228(central_nervous_system)	1	BRAF	ENST00000288602,p.V600E|uc003vwc.4,p.V600E|ENST00000479537,p.V28E|NM_004333,p.V600E	retained_intron, protein_coding, nonsense_mediated_decay	uc003vwc.4	nonsynonymous SNV	exon15	c.T1799A	p.V600E	LTVKIGDFGLATVKSRWSGSHQFEQ	LTVKIGDFGLATEKSRWSGSHQFEQ	7.0	10.0	-	-	4244_7:140453136-140453136 A>T_LTVKIGDFGLATEKSRWSGSHQFEQ
19:54871655-54871655 G>A	1.0	4244	COLON	-	-	-	-	LAIR1	ENST00000444687,p.P20L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000444687	nonsynonymous SNV	exon2	c.C59T	p.P20L	LLVKETSGGPDSPDTEPGSSAGTVP	LLVKETSGGPDSLDTEPGSSAGTVP	9.0	7.0	-	-	4244_19:54871655-54871655 G>A_LLVKETSGGPDSLDTEPGSSAGTVP
19:54871655-54871655 G>A	1.0	4244	COLON	-	-	-	-	LAIR1	ENST00000391742,p.P130L|uc002qfo.3,p.P112L|ENST00000418556,p.P130L|uc002qfk.1,p.P130L|ENST00000313038,p.P123L|ENST00000391743,p.P112L|ENST00000434277,p.P129L|uc002qfm.1,p.P129L|uc010yex.2,p.P123L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yex.2	nonsynonymous SNV	exon4	c.C368T	p.P123L	LLVKETSGGPDSPDTEPGSSAGPTQ	LLVKETSGGPDSLDTEPGSSAGPTQ	9.0	7.0	-	-	4244_19:54871655-54871655 G>A_LLVKETSGGPDSLDTEPGSSAGPTQ
10:11997506-11997506 C>G	1.0	4244	COLON	-	-	-	-	UPF2	NM_080599,p.V859L|ENST00000397053,p.V859L|ENST00000357604,p.V859L|uc009xiz.2,p.V859L|uc001ilc.3,p.V859L|uc001ilb.3,p.V859L|NM_015542,p.V859L|ENST00000356352,p.V859L|uc001ila.3,p.V859L	protein_coding, processed_transcript	uc009xiz.2	nonsynonymous SNV	exon14	c.G2575C	p.V859L	DGVLEDIRLGMEVNQPKFNQRRISS	DGVLEDIRLGMELNQPKFNQRRISS	9.0	1.0	-	-	4244_10:11997506-11997506 C>G_DGVLEDIRLGMELNQPKFNQRRISS
10:71007193-71007193 C>T	1.0	4244	COLON	-	-	-	-	HKDC1	ENST00000354624,p.A370V|uc010qje.2,p.A233V|uc001jpf.4,p.A370V|NM_025130,p.A370V|ENST00000395086,p.A370V	protein_coding, processed_transcript	uc010qje.2	nonsynonymous SNV	exon6	c.C698T	p.A233V	DLGLEPSEADCIAVQHVCTIVSFRS	DLGLEPSEADCIVVQHVCTIVSFRS	9.0	9.0	-	-	4244_10:71007193-71007193 C>T_DLGLEPSEADCIVVQHVCTIVSFRS
11:7509628-7509628 C>T	0.0	4244	COLON	-	-	ID=COSM3703690;OCCURENCE=2(liver)	-	OLFML1	NM_198474,p.R134W|uc010rba.2,p.R134W|ENST00000530135,p.R134W|uc001mfi.3,p.R134W|ENST00000329293,p.R134W	retained_intron, protein_coding	uc010rba.2	nonsynonymous SNV	exon3	c.C400T	p.R134W	MLLQEAEEEKKIRTLLNASCDNMLM	MLLQEAEEEKKIWTLLNASCDNMLM	7.0	8.0	unscreened	-	4244_11:7509628-7509628 C>T_MLLQEAEEEKKIWTLLNASCDNMLM
X:69720382-69720382 T>G	1.0	4244	COLON	-	-	-	-	DLG3	uc004dyj.2,p.L431R|NM_021120,p.L736R|ENST00000542398,p.L285R|NM_001166278,p.L285R|NM_020730,p.L431R|ENST00000194900,p.L768R|uc004dyi.2,p.L736R|uc011mpn.2,p.L285R|ENST00000374360,p.L736R|ENST00000374355,p.L431R	retained_intron, protein_coding, processed_transcript	uc011mpn.2	nonsynonymous SNV	exon10	c.T854G	p.L285R	SGNAIKRLQQAQLYPIAIFIKPKSI	SGNAIKRLQQAQRYPIAIFIKPKSI	9.0	6.0	CD8	-	4244_X:69720382-69720382 T>G_SGNAIKRLQQAQRYPIAIFIKPKSI
9:117846731-117846731 C>T	1.0	4244	COLON	-	-	-	2	TNC	ENST00000542877,p.V630I|ENST00000341037,p.V630I|ENST00000340094,p.V630I|NM_002160,p.V630I|ENST00000350763,p.V630I|ENST00000535648,p.V630I|ENST00000346706,p.V630I|ENST00000423613,p.V630I|uc010mvf.3,p.V630I|ENST00000537320,p.V630I|ENST00000345230,p.V630I|uc004bjj.4,p.V630I|uc022bmj.1,p.V630I	protein_coding, processed_transcript	uc022bmj.1	nonsynonymous SNV	exon3	c.G1888A	p.V630I	EDCSEVSPPKDLVVTEVTEETVNLA	EDCSEVSPPKDLIVTEVTEETVNLA	9.0	9.0	-	-	4244_9:117846731-117846731 C>T_EDCSEVSPPKDLIVTEVTEETVNLA
6:155578996-155578996 C>T	1.0	4244	COLON	-	-	-	-	TFB1M	uc003qqj.4,p.D339N|NM_016020,p.D339N|ENST00000367166,p.D339N	protein_coding, processed_transcript	uc003qqj.4	nonsynonymous SNV	exon7	c.G1015A	p.D339N	KRRKSKNEEKEEDDAENYRL	KRRKSKNEEKEENDAENYRL	9.0	2.0	-	-	4244_6:155578996-155578996 C>T_KRRKSKNEEKEENDAENYRL
19:23836507-23836507 C>A	1.0	4244	COLON	-	-	-	-	ZNF675	uc002nri.3,p.A410S|ENST00000359788,p.A410S|NM_138330,p.A410S	retained_intron, protein_coding, nonsense_mediated_decay	uc002nri.3	nonsynonymous SNV	exon4	c.G1228T	p.A410S	CKECGKAFKHSSALTTHKRIHTGEK	CKECGKAFKHSSSLTTHKRIHTGEK	6.0	4.0	-	-	4244_19:23836507-23836507 C>A_CKECGKAFKHSSSLTTHKRIHTGEK
11:46912037-46912037 T>G	0.0	4244	COLON	-	-	ID=COSM275906;OCCURENCE=1(large_intestine)	-	LRP4	uc001ndn.4,p.Y569S|NM_002334,p.Y569S|ENST00000378623,p.Y569S	retained_intron, protein_coding	uc001ndn.4	nonsynonymous SNV	exon14	c.A1706C	p.Y569S	RAIALHPMEGTIYWTDWGNTPRIEA	RAIALHPMEGTISWTDWGNTPRIEA	7.0	6.0	unscreened	-	4244_11:46912037-46912037 T>G_RAIALHPMEGTISWTDWGNTPRIEA
11:76885923-76885923 G>A	0.0	4244	COLON	-	-	-	-	MYO7A	uc001oyc.2,p.R686H|NM_000260,p.R686H|ENST00000409709,p.R686H|uc010rsl.2,p.R686H|uc010rsm.1,p.R675H|uc001oyb.2,p.R686H|uc001oyd.3,p.R26H|ENST00000409619,p.R675H|NM_001127180,p.R686H|NM_001127179,p.R686H|ENST00000458637,p.R686H|ENST00000409893,p.R686H	retained_intron, protein_coding, processed_transcript	uc010rsm.1	nonsynonymous SNV	exon18	c.G2024A	p.R675H	IRYSFVEFVERYRVLLPGVKPAYKQ	IRYSFVEFVERYHVLLPGVKPAYKQ	7.0	2.0	unscreened	-	4244_11:76885923-76885923 G>A_IRYSFVEFVERYHVLLPGVKPAYKQ
19:52824941-52824941 G>T	0.0	4244	COLON	-	-	ID=COSM1289143,COSM1289142;OCCURENCE=1(autonomic_ganglia)	-	ZNF480	NM_001297624,p.R103S|NM_001297625,p.R69S|ENST00000468240,p.R146S|ENST00000334564,p.R103S|uc002pyv.3,p.R69S|NM_144684,p.R146S|uc010ydl.2,p.R146S|ENST00000595962,p.R146S|ENST00000335090,p.R69S|uc010ydm.2,p.R103S	protein_coding, nonsense_mediated_decay	uc010ydm.2	nonsynonymous SNV	exon4	c.G309T	p.R103S	LHLSELELFPDERVINGCNQVENFI	LHLSELELFPDESVINGCNQVENFI	7.0	6.0	unscreened	-	4244_19:52824941-52824941 G>T_LHLSELELFPDESVINGCNQVENFI
6:41898004-41898004 G>A	1.0	4244	COLON	-	-	-	-	BYSL	uc003orl.3,p.R189Q|NM_004053,p.R189Q|ENST00000230340,p.R189Q	retained_intron, protein_coding, nonsense_mediated_decay	uc003orl.3	nonsynonymous SNV	exon3	c.G566A	p.R189Q	LDPRVLEVYRGVREVLSKYRSGKLP	LDPRVLEVYRGVQEVLSKYRSGKLP	8.0	9.0	-	-	4244_6:41898004-41898004 G>A_LDPRVLEVYRGVQEVLSKYRSGKLP
6:31700116-31700116 G>-	1.0	4244	COLON	-	-	-	-	CLIC1	ENST00000375780,p.L148fs|NM_001287593,p.L148fs|ENST00000375784,p.L148fs|NM_001287594,p.L148fs|ENST00000395892,p.L148fs|NM_001288,p.L148fs|uc003nwr.3,p.L148fs|ENST00000375779,p.L148fs	protein_coding	uc003nwr.3	frameshift deletion	exon5	c.442delC	p.L148fs	ALKVLDNYLTSPLPEEVDETSAEDEG	ALKVLDNYLTSPSQKKWMKPVLKMKVSLRGSFWMATSSPWLTATCCQSYT	10.0	9.0	unscreened	-	4244_6:31700116-31700116 G>-_ALKVLDNYLTSPSQKKWMKPVLKMKVSLRGSFWMATSSPWLTATCCQSYT
5:40681790-40681790 C>T	1.0	4244	COLON	-	-	-	-	PTGER4	NM_000958,p.A232V|uc003jlz.3,p.A232V|ENST00000302472,p.A232V	protein_coding, processed_transcript	uc003jlz.3	nonsynonymous SNV	exon2	c.C695T	p.A232V	RTSLGTEQHHAAAAASVASRGHPAA	RTSLGTEQHHAAVAASVASRGHPAA	7.0	10.0	-	-	4244_5:40681790-40681790 C>T_RTSLGTEQHHAAVAASVASRGHPAA
7:930669-930670 GA>-	1.0	4244	COLON	-	-	-	-	GET4	uc003sjl.1,p.E191fs|ENST00000407192,p.E138fs|ENST00000265857,p.E191fs|NM_015949,p.E191fs	retained_intron, protein_coding	uc003sjl.1	frameshift deletion	exon5	c.571_572del	p.E191fs	LVEYSTSRGFRSEVDMFVAQAVLQFL	LVEYSTSRGFRSGGHVRGPGRATVSLFKKQK	9.0	7.0	unscreened	-	4244_7:930669-930670 GA>-_LVEYSTSRGFRSGGHVRGPGRATVSLFKKQK
12:6702280-6702280 G>A	1.0	4244	COLON	-	-	ID=COSM1476838,COSM431707,COSM431706;OCCURENCE=1(breast)	1	CHD4	ENST00000309577,p.R877W|NM_001273,p.R877W|uc001qpp.3,p.R874W|uc001qpo.3,p.R877W|ENST00000357008,p.R877W|NM_001297553,p.R870W|ENST00000544040,p.R870W|ENST00000544484,p.R874W|uc001qpn.3,p.R870W	retained_intron, protein_coding, processed_transcript	uc001qpp.3	nonsynonymous SNV	exon17	c.C2620T	p.R874W	IDWACLIVDEAHRLKNNQSKFFRVL	IDWACLIVDEAHWLKNNQSKFFRVL	10.0	9.0	-	-	4244_12:6702280-6702280 G>A_IDWACLIVDEAHWLKNNQSKFFRVL
19:54871655-54871655 G>A	1.0	4244	COLON	-	-	-	-	LAIR1	NM_001289026,p.P123L|NM_001289027,p.P112L|NM_001289025,p.P129L|NM_002287,p.P130L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	NM_002287	nonsynonymous SNV	exon4	c.C389T	p.P130L	LLVKESSGGPDSPDTEPGSSAGPTQ	LLVKESSGGPDSLDTEPGSSAGPTQ	9.0	7.0	-	-	4244_19:54871655-54871655 G>A_LLVKESSGGPDSLDTEPGSSAGPTQ
16:2086756-2086756 C>T	1.0	4244	COLON	-	-	-	-	SLC9A3R2	NM_001252076,p.R97C|uc021tao.1,p.R95C|uc002coj.3,p.R208C|NM_001252075,p.R95C|NM_001130012,p.R208C|ENST00000565855,p.R95C|uc021tan.1,p.R97C|uc002coi.3,p.R208C|ENST00000563587,p.R102C|ENST00000424542,p.R208C|ENST00000432365,p.R208C|NM_001252073,p.R97C|ENST00000566198,p.R97C|uc002cok.3,p.R97C|NM_004785,p.R208C	retained_intron, protein_coding, processed_transcript	uc021tao.1	nonsynonymous SNV	exon3	c.C283T	p.R95C	LIEVNGQNVEGLRHAEVVASIKARE	LIEVNGQNVEGLCHAEVVASIKARE	10.0	7.0	-	-	4244_16:2086756-2086756 C>T_LIEVNGQNVEGLCHAEVVASIKARE
11:46341947-46341947 G>A	1.0	4244	COLON	-	-	-	1	CREB3L1	uc021qil.1,p.R464Q|uc001ncg.3,p.R98Q|uc021qik.1,p.R464Q|ENST00000529193,p.R464Q|ENST00000288400,p.R464Q|NM_052854,p.R464Q	retained_intron, protein_coding, processed_transcript	uc021qil.1	nonsynonymous SNV	exon11	c.G1391A	p.R464Q	EINPGGPAEQRPRDHLQHDHLDSTH	EINPGGPAEQRPQDHLQHDHLDSTH	8.0	9.0	-	-	4244_11:46341947-46341947 G>A_EINPGGPAEQRPQDHLQHDHLDSTH
18:44470857-44470857 C>G	1.0	4244	COLON	-	-	-	-	PIAS2	uc002lck.3,p.R62T|uc002lcl.3,p.R62T|NM_004671,p.R62T|uc002lcm.3,p.R62T|ENST00000589917,p.R53T|ENST00000324794,p.R62T|uc002lcn.1,p.R66T|NM_173206,p.R62T|ENST00000586953,p.R60T|ENST00000398654,p.R62T|ENST00000585916,p.R62T	protein_coding, processed_transcript, nonsense_mediated_decay	uc002lcn.1	nonsynonymous SNV	exon2	c.G197C	p.R66T	SPAVQIKIRELYRRRYPRTLEGLSD	SPAVQIKIRELYTRRYPRTLEGLSD	8.0	1.0	-	-	4244_18:44470857-44470857 C>G_SPAVQIKIRELYTRRYPRTLEGLSD
21:35260573-35260573 G>T	0.0	4244	COLON	-	-	-	-	ITSN1	ENST00000399367,p.R1707L|uc002ytj.2,p.R1651L|NM_003024,p.R1712L|ENST00000381285,p.R1712L|ENST00000381318,p.R1712L|uc002ytb.1,p.R1707L|ENST00000437442,p.R1651L|uc002yta.1,p.R1712L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ytj.2	nonsynonymous SNV	exon37	c.G4952T	p.R1651L	LLHEVPTGEIVVRLDLQLFDEP	LLHEVPTGEIVVLLDLQLFDEP	8.0	7.0	unscreened	-	4244_21:35260573-35260573 G>T_LLHEVPTGEIVVLLDLQLFDEP
16:30964795-30964795 A>C	1.0	4244	COLON	-	-	-	-	ORAI3	ENST00000318663,p.K173T|uc002eac.3,p.K173T|NM_152288,p.K173T|ENST00000566237,p.K173T	protein_coding, nonsense_mediated_decay	uc002eac.3	nonsynonymous SNV	exon2	c.A518C	p.K173T	LFLAEVVLVGWVKFVPIGAPLDTPT	LFLAEVVLVGWVTFVPIGAPLDTPT	8.0	5.0	-	-	4244_16:30964795-30964795 A>C_LFLAEVVLVGWVTFVPIGAPLDTPT
6:43190311-43190311 G>A	1.0	4244	COLON	-	-	-	-	CUL9	uc010jyk.3,p.E1474K|ENST00000372647,p.E2294K|uc003ouk.3,p.E2322K|ENST00000252050,p.E2322K|uc003oun.3,p.E117K|ENST00000354495,p.E2212K|NM_015089,p.E2322K|uc003oul.3,p.E2294K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jyk.3	nonsynonymous SNV	exon36	c.G4420A	p.E1474K	AVNLRNRVSAIHEVPPPRSFTFLND	AVNLRNRVSAIHKVPPPRSFTFLND	9.0	3.0	-	-	4244_6:43190311-43190311 G>A_AVNLRNRVSAIHKVPPPRSFTFLND
8:121282389-121282389 C>A	0.0	4244	COLON	-	-	-	-	COL14A1	ENST00000309791,p.N1063K|ENST00000297848,p.N1063K|NM_021110,p.N1063K|uc003yoz.3,p.N28K|uc003yox.4,p.N1063K|ENST00000247781,p.N968K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003yoz.3	nonsynonymous SNV	exon1	c.C84A	p.N28K	IISFLYSTVGALNKIGTDGTQVAMV	IISFLYSTVGALKKIGTDGTQVAMV	9.0	3.0	unscreened	-	4244_8:121282389-121282389 C>A_IISFLYSTVGALKKIGTDGTQVAMV
1:169824103-169824103 C>T	1.0	4244	COLON	-	-	-	-	SCYL3	ENST00000423670,p.D439N|uc001ggt.3,p.D439N|NM_020423,p.D439N|uc010plw.2,p.D85N|ENST00000367771,p.D439N	protein_coding, processed_transcript	uc010plw.2	nonsynonymous SNV	exon7	c.G253A	p.D85N	SFTKNTDLSLEGDPFSQPIKFPING	SFTKNTDLSLEGNPFSQPIKFPING	7.0	3.0	-	-	4244_1:169824103-169824103 C>T_SFTKNTDLSLEGNPFSQPIKFPING
11:72469576-72469576 G>T	1.0	4244	COLON	-	-	-	-	STARD10	NM_006645,p.P153H|uc001osy.3,p.P153H|ENST00000545082,p.P124H|uc001otb.3,p.P153H|uc001osz.4,p.P153H|ENST00000544767,p.P84H|ENST00000537947,p.P153H|ENST00000536728,p.P84H|ENST00000543304,p.P153H|uc001ota.3,p.P107H|ENST00000538536,p.P107H|ENST00000334805,p.P153H|ENST00000537351,p.P60H|ENST00000542989,p.P153H	retained_intron, protein_coding, processed_transcript, TEC	uc001otb.3	nonsynonymous SNV	exon4	c.C458A	p.P153H	ADYIIMNYSVKHPKYPPRKDLVRAV	ADYIIMNYSVKHHKYPPRKDLVRAV	10.0	9.0	-	-	4244_11:72469576-72469576 G>T_ADYIIMNYSVKHHKYPPRKDLVRAV
2:33572443-33572443 A>T	1.0	4244	COLON	-	-	-	-	LTBP1	ENST00000390003,p.E964V|ENST00000404816,p.E1289V|uc002rov.3,p.E910V|NM_001166265,p.E910V|ENST00000404525,p.E910V|ENST00000402934,p.E910V|ENST00000354476,p.E1290V|NM_206943,p.E1289V|uc021vft.1,p.E1289V|uc002rou.3,p.E963V|ENST00000407925,p.E963V|NM_000627,p.E963V	protein_coding, processed_transcript	uc021vft.1	nonsynonymous SNV	exon26	c.A3866T	p.E1289V	APQDGQGCVDVNECELLSGVCGEAF	APQDGQGCVDVNVCELLSGVCGEAF	9.0	9.0	-	-	4244_2:33572443-33572443 A>T_APQDGQGCVDVNVCELLSGVCGEAF
2:69748069-69748069 C>A	1.0	4244	COLON	-	-	-	-	AAK1	ENST00000409068,p.R369S|ENST00000406297,p.R369S|uc010yqm.1,p.R369S|uc010fdk.2,p.R369S|ENST00000409085,p.R369S|uc002sfp.2,p.R369S|NM_014911,p.R369S	retained_intron, protein_coding, processed_transcript	uc010yqm.1	nonsynonymous SNV	exon10	c.G1107T	p.R369S	IPTTETSIAPRQRPKAGQTQPNPGI	IPTTETSIAPRQSPKAGQTQPNPGI	9.0	8.0	-	-	4244_2:69748069-69748069 C>A_IPTTETSIAPRQSPKAGQTQPNPGI
1:237586435-237586435 C>T	0.0	4244	COLON	-	-	ID=COSM3689454,COSM906125;OCCURENCE=1(large_intestine),2(endometrium)	-	RYR2	uc001hyl.1,p.R298C|ENST00000360064,p.R296C|NM_001035,p.R298C|ENST00000542537,p.R282C|ENST00000366574,p.R298C	protein_coding, processed_transcript	uc001hyl.1	nonsynonymous SNV	exon12	c.C892T	p.R298C	GSHIRWGQPFRLRHVTTGKYLSLME	GSHIRWGQPFRLCHVTTGKYLSLME	6.0	5.0	unscreened	-	4244_1:237586435-237586435 C>T_GSHIRWGQPFRLCHVTTGKYLSLME
9:128206805-128206805 G>A	1.0	4244	COLON	-	-	-	-	MAPKAP1	ENST00000373511,p.A426V|ENST00000394063,p.A281V|ENST00000373503,p.A281V|ENST00000373498,p.A473V|uc011lzv.2,p.A181V|NM_001006620,p.A281V|uc004bpy.3,p.A437V|NM_001006617,p.A473V|NM_001006619,p.A426V|uc004bpz.3,p.A426V|uc011lzu.2,p.A281V|NM_001006621,p.A281V|NM_024117,p.A437V|ENST00000265960,p.A473V|ENST00000350766,p.A437V|ENST00000373497,p.A186V|uc004bpv.3,p.A473V|uc004bpw.3,p.A281V|uc004bpx.3,p.A281V|uc011lzt.2,p.A276V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lzv.2	nonsynonymous SNV	exon6	c.C542T	p.A181V	HDYKHLYFESDAATVNEIVLKVNYI	HDYKHLYFESDAVTVNEIVLKVNYI	10.0	1.0	-	-	4244_9:128206805-128206805 G>A_HDYKHLYFESDAVTVNEIVLKVNYI
3:23541206-23541206 C>G	1.0	4244	COLON	-	-	-	-	UBE2E2	ENST00000396703,p.P112R|ENST00000425792,p.P112R|NM_152653,p.P112R|ENST00000452894,p.P136R|uc003ccg.2,p.P112R	protein_coding, nonsense_mediated_decay	uc003ccg.2	nonsynonymous SNV	exon4	c.C335G	p.P112R	EGGVFFLDITFSPDYPFKPPKVTFR	EGGVFFLDITFSRDYPFKPPKVTFR	8.0	4.0	-	-	4244_3:23541206-23541206 C>G_EGGVFFLDITFSRDYPFKPPKVTFR
19:35979706-35979706 C>T	1.0	4244	COLON	-	-	-	-	KRTDAP	NM_207392,p.E42K|uc002nzh.3,p.E42K|ENST00000338897,p.E42K	protein_coding, processed_transcript	uc002nzh.3	nonsynonymous SNV	exon2	c.G124A	p.E42K	EESTIENYASRPEAFNTPFLNIDKL	EESTIENYASRPKAFNTPFLNIDKL	5.0	6.0	-	-	4244_19:35979706-35979706 C>T_EESTIENYASRPKAFNTPFLNIDKL
17:7099617-7099617 C>T	1.0	4244	COLON	-	-	-	-	DLG4	uc010cly.3,p.R405Q|uc002get.4,p.R451Q|uc010vto.2,p.R448Q|NM_001365,p.R451Q|ENST00000399510,p.R451Q|ENST00000399506,p.R408Q|uc010vtn.2,p.R348Q|NM_001128827,p.R405Q|ENST00000302955,p.R405Q	retained_intron, protein_coding, nonsense_mediated_decay	uc010vto.2	nonsynonymous SNV	exon13	c.G1343A	p.R448Q	EYSRFEAKIHDLREQLMNSSLGSGT	EYSRFEAKIHDLQEQLMNSSLGSGT	7.0	3.0	-	-	4244_17:7099617-7099617 C>T_EYSRFEAKIHDLQEQLMNSSLGSGT
12:116446341-116446341 G>A	1.0	4244	COLON	0.0014	-	-	-	MED13L	uc001tvw.3,p.P626L|ENST00000281928,p.P626L|NM_015335,p.P626L	retained_intron, protein_coding, processed_transcript	uc001tvw.3	nonsynonymous SNV	exon10	c.C1877T	p.P626L	ETALYCGIRPSNPESSEKWWHSYRL	ETALYCGIRPSNLESSEKWWHSYRL	6.0	7.0	-	-	4244_12:116446341-116446341 G>A_ETALYCGIRPSNLESSEKWWHSYRL
6:111695910-111695910 C>G	1.0	4244	COLON	-	-	-	-	REV3L	NM_001286432,p.E1138D|ENST00000435970,p.E1138D|NM_001286431,p.E1138D|ENST00000368802,p.E1216D|uc003puy.4,p.E1216D|ENST00000368805,p.E1216D|ENST00000358835,p.E1216D|uc003pux.4,p.E1138D|uc003puz.4,p.E1138D|NM_002912,p.E1216D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003puz.4	nonsynonymous SNV	exon15	c.G3414C	p.E1138D	GKKKPRAKQKTNEKGTSRKHTTLKD	GKKKPRAKQKTNDKGTSRKHTTLKD	7.0	3.0	-	-	4244_6:111695910-111695910 C>G_GKKKPRAKQKTNDKGTSRKHTTLKD
8:124824829-124824829 C>T	1.0	4244	COLON	-	-	-	-	FAM91A1	NM_144963,p.A801V|uc003yqv.3,p.A801V	retained_intron, protein_coding, nonsense_mediated_decay	uc003yqv.3	nonsynonymous SNV	exon24	c.C2402T	p.A801V	PSFSSLLSQSSYADMGVPLPAKNLI	PSFSSLLSQSSYVDMGVPLPAKNLI	8.0	7.0	-	-	4244_8:124824829-124824829 C>T_PSFSSLLSQSSYVDMGVPLPAKNLI
1:97981407-97981407 C>T	0.0	4244	COLON	0.0009	-	ID=COSM239642;OCCURENCE=1(prostate),1(lung)	-	DPYD	uc001drv.3,p.G539R|ENST00000370192,p.G539R|NM_000110,p.G539R	protein_coding, processed_transcript	uc001drv.3	nonsynonymous SNV	exon13	c.G1615A	p.G539R	PIDLVDISVEMAGLKFINPFGLASA	PIDLVDISVEMARLKFINPFGLASA	7.0	6.0	unscreened	-	4244_1:97981407-97981407 C>T_PIDLVDISVEMARLKFINPFGLASA
14:105931020-105931020 G>C	1.0	4244	COLON	-	-	-	-	MTA1	ENST00000434050,p.G244R|ENST00000406191,p.G452R|uc001yrb.3,p.G213R|ENST00000405646,p.G435R|ENST00000331320,p.G452R|NM_004689,p.G452R|uc021seq.1,p.G452R|uc001yqx.3,p.G452R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021seq.1	nonsynonymous SNV	exon15	c.G1354C	p.G452R	RPGPNRSNMSPHGLPARSSGSPKFA	RPGPNRSNMSPHRLPARSSGSPKFA	9.0	5.0	-	-	4244_14:105931020-105931020 G>C_RPGPNRSNMSPHRLPARSSGSPKFA
16:67716-67716 C>T	1.0	4244	COLON	-	-	-	-	MIR6859-1,MIR6859-2	uc002cfg.1,p.R112H|ENST00000326592,p.R112H	retained_intron, protein_coding, nonsense_mediated_decay	uc002cfg.1	nonsynonymous SNV	exon3	c.G335A	p.R112H	KVFSSAKYPAPERLQEYGSIFTDAQ	KVFSSAKYPAPEHLQEYGSIFTDAQ	9.0	7.0	-	-	4244_16:67716-67716 C>T_KVFSSAKYPAPEHLQEYGSIFTDAQ
8:117658773-117658773 C>T	1.0	4244	COLON	-	-	-	-	EIF3H	ENST00000276682,p.D314N|uc003yoa.3,p.D300N|NM_003756,p.D300N|ENST00000521861,p.D300N|uc003yob.3,p.D314N	retained_intron, protein_coding, nonsense_mediated_decay	uc003yob.3	nonsynonymous SNV	exon9	c.G940A	p.D314N	RQSRGEPPLPEEDLSKLFKPPQPPA	RQSRGEPPLPEENLSKLFKPPQPPA	10.0	4.0	-	-	4244_8:117658773-117658773 C>T_RQSRGEPPLPEENLSKLFKPPQPPA
7:143078702-143078702 C>T	1.0	4244	COLON	-	-	-	-	ZYX	uc011kte.2,p.S13L|ENST00000322764,p.S13L|NM_001010972,p.S13L|NM_003461,p.S13L|uc003wcw.3,p.S13L|ENST00000457235,p.S13L|uc003wcx.3,p.S13L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kte.2	nonsynonymous SNV	exon1	c.C38T	p.S13L	MAAPRPSPAISVSVSAPAFYAPQKK	MAAPRPSPAISVLVSAPAFYAPQKK	10.0	1.0	-	-	4244_7:143078702-143078702 C>T_MAAPRPSPAISVLVSAPAFYAPQKK
8:38275767-38275767 C>T	0.0	4244	COLON	-	-	-	1	FGFR1	NM_001174065,p.R468H|ENST00000356207,p.R381H|ENST00000532791,p.R468H|NM_001174063,p.R468H|ENST00000397113,p.R468H|uc022aua.1,p.R470H|uc010lwk.3,p.R460H|NM_001174064,p.R460H|NM_001174066,p.R381H|ENST00000341462,p.R470H|ENST00000335922,p.R460H|uc022aub.1,p.R468H|NM_023106,p.R379H|ENST00000425967,p.R501H|NM_023105,p.R381H|uc011lbu.2,p.R501H|NM_015850,p.R468H|ENST00000397108,p.R468H|uc003xlp.3,p.R468H|uc011lbw.2,p.R381H|uc022auc.1,p.R381H|ENST00000397103,p.R381H|ENST00000397091,p.R468H|NM_023110,p.R470H|ENST00000447712,p.R470H|ENST00000326324,p.R379H|NM_001174067,p.R501H|uc011lbv.2,p.R468H|uc022aud.1,p.R379H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022aud.1	nonsynonymous SNV	exon9	c.G1136A	p.R379H	AGVSEYELPEDPRWELPRDRLVLGK	AGVSEYELPEDPHWELPRDRLVLGK	8.0	6.0	unscreened	-	4244_8:38275767-38275767 C>T_AGVSEYELPEDPHWELPRDRLVLGK
5:94001668-94001668 G>C	1.0	4244	COLON	-	-	-	-	ANKRD32	uc003kkr.4,p.E491Q|ENST00000265140,p.E491Q|NM_032290,p.E491Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003kkr.4	nonsynonymous SNV	exon12	c.G1471C	p.E491Q	PWKSPAMSRYYLELFQCPTCMKGAW	PWKSPAMSRYYLQLFQCPTCMKGAW	7.0	1.0	-	-	4244_5:94001668-94001668 G>C_PWKSPAMSRYYLQLFQCPTCMKGAW
2:204255788-204255788 A>C	1.0	4244	COLON	-	-	-	-	ABI2	NM_001282925,p.K167T|ENST00000417864,p.K167T|uc002vaa.3,p.K167T|ENST00000295851,p.K167T|ENST00000422511,p.K167T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002vaa.3	nonsynonymous SNV	exon5	c.A500C	p.K167T	WLLRFKVSTQNMKMGGLPRTTPPTQ	WLLRFKVSTQNMTMGGLPRTTPPTQ	8.0	2.0	-	-	4244_2:204255788-204255788 A>C_WLLRFKVSTQNMTMGGLPRTTPPTQ
8:97797228-97797228 G>A	0.0	4244	COLON	-	-	-	-	CPQ	ENST00000521142,p.E35K|ENST00000519900,p.E35K|ENST00000517742,p.E35K|ENST00000220763,p.E35K|uc010mbe.2,p.E35K|NM_016134,p.E35K|ENST00000519484,p.E35K|uc003yhw.3,p.E35K	protein_coding, processed_transcript	uc010mbe.2	nonsynonymous SNV	exon1	c.G103A	p.E35K	ICKNGISKRTFEEIKEEIASCGDVA	ICKNGISKRTFEKIKEEIASCGDVA	9.0	1.0	unscreened	-	4244_8:97797228-97797228 G>A_ICKNGISKRTFEKIKEEIASCGDVA
11:66824444-66824444 G>A	1.0	4244	COLON	-	-	-	-	RHOD	ENST00000308831,p.G24D|NM_014578,p.G24D|NM_001300886,p.G24D|ENST00000532559,p.G24D|uc001ojv.3,p.G24D|ENST00000533360,p.G24D	protein_coding	uc001ojv.3	nonsynonymous SNV	exon1	c.G71A	p.G24D	PPGVRSVKVVLVGDGGCGKTSLLMV	PPGVRSVKVVLVDDGGCGKTSLLMV	10.0	9.0	-	-	4244_11:66824444-66824444 G>A_PPGVRSVKVVLVDDGGCGKTSLLMV
11:118925208-118925208 G>T	1.0	4244	COLON	-	-	-	-	HYOU1	ENST00000404233,p.Q226K|uc001put.2,p.Q191K|ENST00000543287,p.Q139K|uc001puw.1,p.Q226K|uc010ryu.1,p.Q246K|uc001pux.3,p.Q226K|uc001puu.2,p.Q226K|NM_006389,p.Q226K|NM_001130991,p.Q226K|ENST00000529972,p.Q226K|ENST00000525859,p.Q226K|uc010ryv.1,p.Q115K|ENST00000530473,p.Q226K	retained_intron, protein_coding, nonsense_mediated_decay	uc010ryv.1	nonsynonymous SNV	exon5	c.C343A	p.Q115K	GVFRRKDINTTAQNIMFYDMGSGST	GVFRRKDINTTAKNIMFYDMGSGST	9.0	3.0	-	-	4244_11:118925208-118925208 G>T_GVFRRKDINTTAKNIMFYDMGSGST
12:95461111-95461111 C>T	1.0	4244	COLON	-	-	-	-	NR2C1	NM_003297,p.G17E|uc001tdn.4,p.G17E|ENST00000333003,p.G17E|ENST00000330677,p.G17E|ENST00000393101,p.G17E|uc010suu.1,p.G17E|NM_001032287,p.G17E|uc001tdm.5,p.G17E|uc001tdo.4,p.G17E|NM_001127362,p.G17E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010suu.1	nonsynonymous SNV	exon1	c.G50A	p.G17E	EEIAHQIIEQQMGEIVTEQQTGQKI	EEIAHQIIEQQMEEIVTEQQTGQKI	9.0	6.0	-	-	4244_12:95461111-95461111 C>T_EEIAHQIIEQQMEEIVTEQQTGQKI
10:70513718-70513718 C>A	1.0	4244	COLON	-	-	-	-	CCAR1	NM_018237,p.P410T|ENST00000265872,p.P410T|uc001jon.1,p.P356T|ENST00000541012,p.P410T|uc010qiz.1,p.P395T|uc001jom.1,p.P215T|ENST00000539539,p.P395T|uc010qja.1,p.P395T|uc009xpx.1,p.P384T|uc001joo.3,p.P410T|NM_001282960,p.P395T|NM_001282959,p.P395T|ENST00000543225,p.P384T|ENST00000535016,p.P395T|ENST00000543719,p.P395T|ENST00000536012,p.P215T|ENST00000540210,p.P410T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qja.1	nonsynonymous SNV	exon10	c.C1183A	p.P395T	QFTWVDAFPLSRPFQLGNYCNFYVM	QFTWVDAFPLSRTFQLGNYCNFYVM	10.0	8.0	-	-	4244_10:70513718-70513718 C>A_QFTWVDAFPLSRTFQLGNYCNFYVM
18:9954180-9954180 G>T	1.0	4244	COLON	-	-	-	-	VAPA	ENST00000340541,p.G286V|uc002kok.3,p.G241V|uc002koj.3,p.G286V|NM_003574,p.G286V|NM_194434,p.G241V|ENST00000400000,p.G241V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kok.3	nonsynonymous SNV	exon6	c.G722T	p.G241V	PSLLVVIAAIFIGFFLGKFIL	PSLLVVIAAIFIVFFLGKFIL	10.0	10.0	CD8	-	4244_18:9954180-9954180 G>T_PSLLVVIAAIFIVFFLGKFIL
8:124824829-124824829 C>T	1.0	4244	COLON	-	-	-	-	FAM91A1	ENST00000334705,p.A801V|uc011lil.2,p.A559V	retained_intron, protein_coding, nonsense_mediated_decay	uc011lil.2	nonsynonymous SNV	exon24	c.C1676T	p.A559V	PSFSSLLSQSSCADMGVPLPAKNLI	PSFSSLLSQSSCVDMGVPLPAKNLI	8.0	7.0	-	-	4244_8:124824829-124824829 C>T_PSFSSLLSQSSCVDMGVPLPAKNLI
16:65006929-65006929 C>T	0.0	4244	COLON	-	-	ID=COSM3421076,COSM3421077;OCCURENCE=1(large_intestine)	1	CDH11	NM_001797,p.R423H|uc010vin.2,p.R297H|uc002eoi.3,p.R423H|ENST00000394156,p.R423H|ENST00000566827,p.R297H|ENST00000268603,p.R423H|uc002eoj.3,p.R423H	retained_intron, protein_coding, processed_transcript	uc010vin.2	nonsynonymous SNV	exon8	c.G890A	p.R297H	DAANSPIRYSIDRHTDLDRFFTINP	DAANSPIRYSIDHHTDLDRFFTINP	9.0	8.0	unscreened	-	4244_16:65006929-65006929 C>T_DAANSPIRYSIDHHTDLDRFFTINP
3:141011373-141011373 G>C	1.0	4244	COLON	-	-	-	-	PXYLP1	uc011bnb.2,p.E240Q|uc011bna.2,p.E219Q|uc003etu.3,p.E257Q|NM_001037172,p.E257Q|ENST00000502783,p.E219Q|uc003etv.3,p.E257Q|NM_001282728,p.E219Q|ENST00000508812,p.E248Q|ENST00000504264,p.E240Q|ENST00000286353,p.E257Q|ENST00000393010,p.E257Q|ENST00000393007,p.E241Q|NM_152282,p.E257Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bnb.2	nonsynonymous SNV	exon5	c.G718C	p.E240Q	CYCPVRNQYLEKEQRRQYLLRLKNS	CYCPVRNQYLEKQQRRQYLLRLKNS	7.0	2.0	-	-	4244_3:141011373-141011373 G>C_CYCPVRNQYLEKQQRRQYLLRLKNS
19:5653427-5653427 G>A	1.0	4244	COLON	-	-	-	-	SAFB	ENST00000592224,p.D508N|ENST00000433404,p.D338N|ENST00000292123,p.D508N|ENST00000538656,p.D351N|NM_001201339,p.D508N|uc010xir.2,p.D508N|NM_001201340,p.D439N|NM_001201338,p.D508N|uc002mcg.3,p.D508N|ENST00000454510,p.D439N|uc010xiu.2,p.D307N|uc002mcf.3,p.D508N|NM_002967,p.D508N|ENST00000588852,p.D508N|uc002mce.4,p.D508N|uc010xit.2,p.D351N|uc010xis.2,p.D439N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xiu.2	nonsynonymous SNV	exon8	c.G919A	p.D307N	DSDGKKEKSSNSDRSTNLKRDDKCD	DSDGKKEKSSNSNRSTNLKRDDKCD	9.0	2.0	-	-	4244_19:5653427-5653427 G>A_DSDGKKEKSSNSNRSTNLKRDDKCD
2:204255788-204255788 A>C	1.0	4244	COLON	-	-	-	-	ABI2	uc002vab.3,p.K116T|NM_005759,p.K161T|uc002uzz.3,p.K161T|ENST00000424558,p.K161T|uc010zii.2,p.K161T|ENST00000430418,p.K161T|NM_001282932,p.K105T|NM_001282927,p.K116T|ENST00000261017,p.K161T|ENST00000261016,p.K116T|NM_001282926,p.K161T|uc010zij.2,p.K105T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zij.2	nonsynonymous SNV	exon5	c.A314C	p.K105T	IGHGVKVSTQNMKMGGLPRTTPPTQ	IGHGVKVSTQNMTMGGLPRTTPPTQ	8.0	2.0	-	-	4244_2:204255788-204255788 A>C_IGHGVKVSTQNMTMGGLPRTTPPTQ
2:163134720-163134720 T>C	1.0	4244	COLON	-	-	-	-	IFIH1	NM_022168,p.K587R|ENST00000263642,p.K587R|uc002uce.4,p.K587R	retained_intron, protein_coding	uc002uce.4	nonsynonymous SNV	exon9	c.A1760G	p.K587R	TQPYEQWAIQMEKKAAKEGNRKERV	TQPYEQWAIQMERKAAKEGNRKERV	8.0	7.0	-	-	4244_2:163134720-163134720 T>C_TQPYEQWAIQMERKAAKEGNRKERV
19:21992087-21992087 T>-	0.0	4244	COLON	-	-	-	-	ZNF43	ENST00000354959,p.N251fs|uc031rka.1,p.N260fs|uc002nql.4,p.N245fs|NM_001256653,p.N260fs|NM_003423,p.N251fs|NM_001256650,p.N245fs|NM_001256648,p.N245fs|uc031rkb.1,p.N186fs|NM_001256651,p.N186fs|uc002nqk.4,p.N186fs|ENST00000595461,p.N245fs|NM_001256654,p.N186fs|uc010ecv.4,p.N245fs|uc002nqm.4,p.N245fs|ENST00000598381,p.N245fs|ENST00000594012,p.N245fs|NM_001256649,p.N245fs|uc002nqj.4,p.N251fs	retained_intron, protein_coding, processed_transcript	uc031rkb.1	frameshift deletion	exon3	c.557delA	p.N186fs	FNWSSRLTTHKKNYTRYKLYKCEECG	FNWSSRLTTHKKIILDTNSTNVKNVAKLLTSPQSLLPIR	6.0	7.0	unscreened	-	4244_19:21992087-21992087 T>-_FNWSSRLTTHKKIILDTNSTNVKNVAKLLTSPQSLLPIR
X:31190517-31190517 C>G	0.0	4244	COLON	-	-	-	-	DMD	NM_004017,p.E367Q|NM_004006,p.E3448Q|uc004dcx.2,p.E2107Q|NM_004018,p.E367Q|uc004dco.1,p.E380Q|uc004dcq.1,p.E719Q|uc004dct.1,p.E988Q|uc004dcm.1,p.E380Q|uc004ddb.1,p.E3440Q|ENST00000378723,p.E380Q|NM_004015,p.E380Q|NM_004009,p.E3444Q|ENST00000378707,p.E988Q|uc004dcp.1,p.E367Q|uc004dcw.2,p.E2104Q|uc004dcv.1,p.E975Q|ENST00000378677,p.E3444Q|uc004dcy.1,p.E3444Q|NM_004012,p.E2104Q|NM_004011,p.E2107Q|NM_000109,p.E3440Q|uc004dcu.1,p.E988Q|uc004dcz.2,p.E3325Q|NM_004016,p.E380Q|ENST00000474231,p.E988Q|uc004dcn.1,p.E367Q|NM_004022,p.E975Q|NM_004010,p.E3325Q|ENST00000358062,p.E1131Q|ENST00000359836,p.E975Q|NM_004013,p.E988Q|uc004dda.1,p.E3448Q|NM_004021,p.E988Q|ENST00000378702,p.E380Q|ENST00000361471,p.E367Q|NM_004014,p.E719Q|ENST00000357033,p.E3448Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004ddb.1	nonsynonymous SNV	exon73	c.G10318C	p.E3440Q	RIEHYASRLAEMENSNGSYLNDSIS	RIEHYASRLAEMQNSNGSYLNDSIS	6.0	8.0	unscreened	-	4244_X:31190517-31190517 C>G_RIEHYASRLAEMQNSNGSYLNDSIS
16:15841923-15841923 A>T	0.0	4244	COLON	-	-	-	1	MYH11	ENST00000300036,p.F721I|ENST00000338282,p.F721I|uc010bvg.3,p.F553I|uc002ddy.3,p.F721I|NM_001040114,p.F728I|ENST00000452625,p.F728I|ENST00000576790,p.F721I|uc002ddx.3,p.F728I|NM_002474,p.F721I|ENST00000396324,p.F728I|uc002ddv.3,p.F728I|uc002ddw.3,p.F721I|NM_001040113,p.F728I|NM_022844,p.F721I	retained_intron, protein_coding, processed_transcript	uc010bvg.3	nonsynonymous SNV	exon18	c.T1657A	p.F553I	RICRQGFPNRIVFQEFRQRYEILAA	RICRQGFPNRIVIQEFRQRYEILAA	9.0	5.0	unscreened	-	4244_16:15841923-15841923 A>T_RICRQGFPNRIVIQEFRQRYEILAA
17:27904670-27904670 C>T	1.0	4244	COLON	-	-	-	-	GIT1	NM_001085454,p.R334Q|ENST00000394869,p.R334Q|uc002hef.2,p.R325Q|uc002heg.2,p.R334Q|ENST00000579937,p.R325Q|ENST00000581348,p.R334Q|ENST00000225394,p.R325Q|uc010wbg.1,p.R334Q|ENST00000585148,p.R86Q|NM_014030,p.R325Q	retained_intron, protein_coding, nonsense_mediated_decay	uc010wbg.1	nonsynonymous SNV	exon11	c.G1001A	p.R334Q	PFLPVNPEYSATRNQGRQKLARFNA	PFLPVNPEYSATQNQGRQKLARFNA	8.0	10.0	-	-	4244_17:27904670-27904670 C>T_PFLPVNPEYSATQNQGRQKLARFNA
5:178140619-178140619 G>A	1.0	4244	COLON	0.0023	-	ID=COSM1581961;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	ZNF354A	NM_005649,p.S87L|uc003mjj.3,p.S87L|ENST00000335815,p.S87L|ENST00000520331,p.S87L	protein_coding, nonsense_mediated_decay	uc003mjj.3	nonsynonymous SNV	exon5	c.C260T	p.S87L	VEKDGSGVSSLGSKSSHKTTKSTQT	VEKDGSGVSSLGLKSSHKTTKSTQT	7.0	6.0	-	-	4244_5:178140619-178140619 G>A_VEKDGSGVSSLGLKSSHKTTKSTQT
9:128692046-128692046 T>G	1.0	4244	COLON	-	-	-	-	PBX3	NM_001134778,p.F135C|uc011lzx.2,p.F121C|ENST00000447726,p.F135C|NM_006195,p.F210C|ENST00000373487,p.F210C|uc004bqe.3,p.F97C|ENST00000373489,p.F210C|ENST00000373483,p.F29C|uc011lzw.2,p.F135C|uc004bqd.3,p.F29C|uc004bqc.3,p.F29C|ENST00000491787,p.F135C|ENST00000342287,p.F210C|uc004bqb.3,p.F210C	protein_coding, processed_transcript, nonsense_mediated_decay	uc011lzx.2	nonsynonymous SNV	exon3	c.T362G	p.F121C	EIERMVGIIHRKFSSIQMQLKQSTC	EIERMVGIIHRKCSSIQMQLKQSTC	7.0	9.0	-	-	4244_9:128692046-128692046 T>G_EIERMVGIIHRKCSSIQMQLKQSTC
7:98591251-98591251 G>A	1.0	4244	COLON	-	-	ID=COSM1093709,COSM20429;OCCURENCE=1(endometrium),1(large_intestine)	1	TRRAP	uc011kis.2,p.R3270H|uc003upp.3,p.R3299H|uc003upr.3,p.R3005H|NM_003496,p.R3270H|ENST00000355540,p.R3270H|NM_001244580,p.R3299H|ENST00000359863,p.R3299H|ENST00000446306,p.R3288H	retained_intron, protein_coding	uc011kis.2	nonsynonymous SNV	exon64	c.G9809A	p.R3270H	DPGPIRATAPMWRCSRIMHMQRELH	DPGPIRATAPMWHCSRIMHMQRELH	6.0	10.0	-	-	4244_7:98591251-98591251 G>A_DPGPIRATAPMWHCSRIMHMQRELH
16:70690933-70690933 C>T	0.0	4244	COLON	-	-	ID=COSM435667;OCCURENCE=1(breast)	-	IL34	uc021tkk.1,p.S104L|NM_152456,p.S104L|uc002ezi.2,p.S103L|NM_001172772,p.S104L|uc002ezh.2,p.S104L|ENST00000566361,p.S79L|NM_001172771,p.S103L|ENST00000429149,p.S104L|ENST00000288098,p.S104L	retained_intron, protein_coding, processed_transcript	uc021tkk.1	nonsynonymous SNV	exon5	c.C311T	p.S104L	YLWVLVSLSATESVQDVLLEGHPSW	YLWVLVSLSATELVQDVLLEGHPSW	6.0	6.0	unscreened	-	4244_16:70690933-70690933 C>T_YLWVLVSLSATELVQDVLLEGHPSW
2:96525643-96525643 T>C	0.0	4244	COLON	-	rs1636082	-	-	LINC00342,FAHD2CP	ENST00000419039,p.T315A|uc002suz.1,p.T315A|ENST00000420871,p.T539A|ENST00000456556,p.T1288A	retained_intron, protein_coding, nonsense_mediated_decay	uc002suz.1	nonsynonymous SNV	exon29	c.A943G	p.T315A	EKEEIKSQLKHETLELEKELCSLRF	EKEEIKSQLKHEALELEKELCSLRF	8.0	2.0	unscreened	-	4244_2:96525643-96525643 T>C_EKEEIKSQLKHEALELEKELCSLRF
2:86707317-86707317 C>T	0.0	4244	COLON	-	-	-	-	KDM3A	NM_001146688,p.L782F|ENST00000409064,p.L782F|ENST00000409556,p.L782F|ENST00000312912,p.L782F|uc002sri.4,p.L782F|uc010ytj.2,p.L782F|NM_018433,p.L782F|ENST00000542128,p.L730F|uc010ytk.2,p.L730F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ytk.2	nonsynonymous SNV	exon14	c.C2188T	p.L730F	LKQTSLAGEKPTLGAVLQQNPSVLE	LKQTSLAGEKPTFGAVLQQNPSVLE	9.0	1.0	unscreened	-	4244_2:86707317-86707317 C>T_LKQTSLAGEKPTFGAVLQQNPSVLE
11:1090816-1090816 C>G	1.0	4244	COLON	-	-	-	-	MUC2	ENST00000359061,p.F1238L	protein_coding	ENST00000359061	nonsynonymous SNV	exon28	c.C3714G	p.F1238L	HGKILNQTQDGAFCYWEICGPNGTV	HGKILNQTQDGALCYWEICGPNGTV	8.0	5.0	-	-	4244_11:1090816-1090816 C>G_HGKILNQTQDGALCYWEICGPNGTV
11:1090816-1090816 C>G	1.0	4244	COLON	-	-	-	-	MUC2	uc001lsx.1,p.F1237L|ENST00000441003,p.F1237L|NM_002457,p.F1237L	protein_coding	uc001lsx.1	nonsynonymous SNV	exon28	c.C3711G	p.F1237L	EGKILNQTQDGAFCYWEICGPNGTV	EGKILNQTQDGALCYWEICGPNGTV	8.0	5.0	-	-	4244_11:1090816-1090816 C>G_EGKILNQTQDGALCYWEICGPNGTV
6:155154215-155154215 G>C	1.0	4244	COLON	-	-	-	-	SCAF8	uc011efk.2,p.D1213H|uc003qqa.3,p.D1168H|NM_001286188,p.D1246H|uc011efj.2,p.D1234H|NM_001286189,p.D1234H|NM_001286194,p.D1213H|uc003qpz.3,p.D1168H|NM_014892,p.D1168H|ENST00000417268,p.D1168H|ENST00000367178,p.D1168H|ENST00000367186,p.D1234H|NM_001286199,p.D1168H	protein_coding, processed_transcript	uc011efk.2	nonsynonymous SNV	exon21	c.G3637C	p.D1213H	WERQRDRDDRDFDFCREMNGNRLGR	WERQRDRDDRDFHFCREMNGNRLGR	8.0	2.0	-	-	4244_6:155154215-155154215 G>C_WERQRDRDDRDFHFCREMNGNRLGR
1:67288187-67288187 T>G	1.0	4244	COLON	-	-	-	-	WDR78	ENST00000371026,p.I785L|uc009waw.3,p.I498L|uc001dcx.3,p.I785L|ENST00000431318,p.I498L|NM_024763,p.I785L|ENST00000464352,p.I518L	protein_coding, processed_transcript, nonsense_mediated_decay	uc009waw.3	nonsynonymous SNV	exon11	c.A1492C	p.I498L	IWDLHISTLDPLIVNTANPGIKFTT	IWDLHISTLDPLLVNTANPGIKFTT	6.0	10.0	-	-	4244_1:67288187-67288187 T>G_IWDLHISTLDPLLVNTANPGIKFTT
16:1504418-1504418 C>T	1.0	4244	COLON	-	-	ID=COSM1637474;OCCURENCE=1(bone)	-	CLCN7	ENST00000382745,p.V383M|NM_001114331,p.V359M|ENST00000448525,p.V359M|ENST00000262318,p.V359M|uc002clv.3,p.V383M|NM_001287,p.V383M|uc002clw.3,p.V359M	retained_intron, protein_coding, processed_transcript	uc002clw.3	nonsynonymous SNV	exon12	c.G1075A	p.V359M	TIHEIPVFIAMGVVGGVLGAVFNAL	TIHEIPVFIAMGMVGGVLGAVFNAL	9.0	7.0	-	-	4244_16:1504418-1504418 C>T_TIHEIPVFIAMGMVGGVLGAVFNAL
6:53156705-53156705 A>T	0.0	4244	COLON	-	-	-	-	ELOVL5	uc003pbs.2,p.S39T|ENST00000304434,p.S39T|uc011dwx.2,p.S39T|NM_001301856,p.S39T|uc003pbr.2,p.S39T|NM_021814,p.S39T|ENST00000541407,p.S39T|ENST00000370918,p.S39T|NM_001242830,p.S39T|ENST00000542638,p.S39T|NM_001242828,p.S39T|uc003pbq.1,p.S39T	protein_coding, processed_transcript	uc011dwx.2	nonsynonymous SNV	exon3	c.T115A	p.S39T	FLLDNYIPTFICSVIYLLIVWLGPK	FLLDNYIPTFICTVIYLLIVWLGPK	8.0	3.0	unscreened	-	4244_6:53156705-53156705 A>T_FLLDNYIPTFICTVIYLLIVWLGPK
7:98552787-98552787 A>C	0.0	4244	COLON	-	-	-	1	TRRAP	ENST00000359863,p.I1926L|uc011kis.2,p.I1908L|uc003upr.3,p.I1625L|ENST00000355540,p.I1908L|NM_001244580,p.I1926L|uc003upp.3,p.I1926L|ENST00000446306,p.I1907L|NM_003496,p.I1908L	retained_intron, protein_coding	uc011kis.2	nonsynonymous SNV	exon39	c.A5722C	p.I1908L	MEARAIVRQAMAILTPAVPARMEDG	MEARAIVRQAMALLTPAVPARMEDG	6.0	8.0	unscreened	-	4244_7:98552787-98552787 A>C_MEARAIVRQAMALLTPAVPARMEDG
2:179498694-179498694 C>G	0.0	4244	COLON	-	-	-	-	TTN	ENST00000342175,p.D5305H|NM_001267550,p.D14178H|ENST00000460472,p.D5113H|ENST00000589042,p.D14178H|uc021vsy.2,p.D11610H|NM_001256850,p.D12537H|NM_003319,p.D5113H|uc031rqc.1,p.D14178H|ENST00000359218,p.D5238H|uc021vsz.2,p.D5305H|uc021vta.2,p.D5238H|uc031rqd.1,p.D12537H|NM_133437,p.D5305H|NM_133432,p.D5238H|NM_133378,p.D11610H|uc021vtb.2,p.D5113H|ENST00000342992,p.D11610H|ENST00000591111,p.D12537H	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon181	c.G37609C	p.D12537H	SHEKMHVVWFKNDAKLHTSRTVLIS	SHEKMHVVWFKNHAKLHTSRTVLIS	5.0	1.0	unscreened	-	4244_2:179498694-179498694 C>G_SHEKMHVVWFKNHAKLHTSRTVLIS
19:35979706-35979706 C>T	1.0	4244	COLON	-	-	-	-	KRTDAP	ENST00000484218,p.E42K|NM_001244847,p.E42K|uc021uso.1,p.E42K	protein_coding, processed_transcript	uc021uso.1	nonsynonymous SNV	exon2	c.G124A	p.E42K	EESTIENYASRPEAFKADEFLNWHA	EESTIENYASRPKAFKADEFLNWHA	5.0	6.0	-	-	4244_19:35979706-35979706 C>T_EESTIENYASRPKAFKADEFLNWHA
2:219520895-219520895 ->G	0.0	4244	COLON	-	-	-	-	ZNF142	ENST00000411696,p.P86fs|uc002vin.4,p.P86fs|ENST00000449707,p.P86fs|NM_001105537,p.P86fs	protein_coding, nonsense_mediated_decay	uc002vin.4	frameshift insertion	exon4	c.257dupC	p.P86fs	EIIVETVAGTLTPGAPGETPAPKLP	EIIVETVAGTLTPRCSWRDPSSQTASRRERTFTGSRYTLAWAGDS	6.0	7.0	unscreened	-	4244_2:219520895-219520895 ->G_EIIVETVAGTLTPRCSWRDPSSQTASRRERTFTGSRYTLAWAGDS
3:55508651-55508651 C>T	0.0	4244	COLON	-	-	-	-	WNT5A	ENST00000474267,p.R133H|uc003dhn.4,p.R133H|uc010hmx.4,p.R44H|ENST00000497027,p.R118H|uc003dhm.3,p.R118H|NM_003392,p.R133H|ENST00000264634,p.R133H|NM_001256105,p.R118H|uc010hmw.4,p.R118H|ENST00000482079,p.R118H	retained_intron, protein_coding, processed_transcript	uc010hmx.4	nonsynonymous SNV	exon4	c.G131A	p.R44H	TSVFGRVMQIGSRETAFTYAVSAAG	TSVFGRVMQIGSHETAFTYAVSAAG	5.0	8.0	unscreened	-	4244_3:55508651-55508651 C>T_TSVFGRVMQIGSHETAFTYAVSAAG
3:186507958-186507958 C>G	1.0	4244	COLON	-	-	-	-	RFC4	ENST00000417876,p.Q98H	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000417876	nonsynonymous SNV	exon3	c.G294C	p.Q98H	HDVVVENNLSDKQKSIITEKLALTN	HDVVVENNLSDKHKSIITEKLALTN	9.0	4.0	-	-	4244_3:186507958-186507958 C>G_HDVVVENNLSDKHKSIITEKLALTN
7:100551613-100551613 A>C	0.0	4244	COLON	-	-	-	-	MUC3A	uc003uxl.1,p.S22R|ENST00000319509,p.S122R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxl.1	nonsynonymous SNV	exon1	c.A64C	p.S22R	ITENTPISSFSTSIVVIPETPTQTP	ITENTPISSFSTRIVVIPETPTQTP	6.0	2.0	unscreened	-	4244_7:100551613-100551613 A>C_ITENTPISSFSTRIVVIPETPTQTP
6:28264621-28264621 C>G	0.0	4244	COLON	-	-	-	-	PGBD1	uc003nky.3,p.A224G|ENST00000405948,p.A224G|uc003nkz.3,p.A224G|NM_032507,p.A224G|ENST00000259883,p.A224G|NM_001184743,p.A224G	protein_coding	uc003nkz.3	nonsynonymous SNV	exon5	c.C671G	p.A224G	RSQTLVKTEEETAQAVAAEKWSHLS	RSQTLVKTEEETGQAVAAEKWSHLS	6.0	2.0	unscreened	-	4244_6:28264621-28264621 C>G_RSQTLVKTEEETGQAVAAEKWSHLS
19:38230597-38230597 T>C	0.0	4244	COLON	-	-	-	-	ZNF573	NM_001172691,p.Q263R|ENST00000357309,p.Q177R|uc002ohg.3,p.Q177R|uc002ohf.3,p.Q207R|NM_001172692,p.Q177R|uc010efs.2,p.Q178R|ENST00000536220,p.Q177R|ENST00000590414,p.Q265R|NM_001172690,p.Q265R|uc021utv.1,p.Q177R|NM_001172689,p.Q177R|uc002ohe.3,p.Q265R|ENST00000392138,p.Q178R|NM_152360,p.Q207R|ENST00000339503,p.Q207R|uc002ohd.3,p.Q263R	protein_coding, processed_transcript, nonsense_mediated_decay	uc021utv.1	nonsynonymous SNV	exon4	c.A530G	p.Q177R	RAFSQGGHLRIHQRVHTGEKPYKCK	RAFSQGGHLRIHRRVHTGEKPYKCK	6.0	2.0	unscreened	-	4244_19:38230597-38230597 T>C_RAFSQGGHLRIHRRVHTGEKPYKCK
2:202712187-202712187 A>C	0.0	4244	COLON	-	-	-	-	CDK15	uc002uys.3,p.K261T|NM_139158,p.K261T|ENST00000450471,p.K312T|NM_001261435,p.K312T|uc002uyt.3,p.K312T|uc010ftm.3,p.K177T|uc031rqs.1,p.K312T|uc010ftn.2,p.K261T|ENST00000434439,p.K312T|ENST00000410091,p.K261T|NM_001261436,p.K312T|ENST00000260967,p.K261T|uc010fto.2,p.K291T|ENST00000374598,p.K312T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rqs.1	nonsynonymous SNV	exon9	c.A935C	p.K312T	FPGVSNILEQLEKIWEVLGVPTEDT	FPGVSNILEQLETIWEVLGVPTEDT	4.0	8.0	unscreened	-	4244_2:202712187-202712187 A>C_FPGVSNILEQLETIWEVLGVPTEDT
19:52217105-52217105 C>T	0.0	4244	COLON	-	-	-	-	HAS1	uc002pxp.1,p.V437M|NM_001523,p.V438M|NM_001297436,p.V437M|uc002pxo.1,p.V438M|ENST00000222115,p.V438M|ENST00000540069,p.V437M|ENST00000601714,p.V445M|uc002pxn.1,p.V445M|uc010epc.1,p.V38M	protein_coding	uc010epc.1	nonsynonymous SNV	exon2	c.G112A	p.V38M	GRPWALLWVLLCVQGVALAKAAFAA	GRPWALLWVLLCMQGVALAKAAFAA	6.0	10.0	unscreened	-	4244_19:52217105-52217105 C>T_GRPWALLWVLLCMQGVALAKAAFAA
11:134127059-134127059 C>T	1.0	4244	COLON	-	-	ID=COSM204330;OCCURENCE=1(large_intestine)	-	ACAD8	ENST00000526026,p.R63W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000526026	nonsynonymous SNV	exon2	c.C187T	p.R63W	RLRRGLHTNRCGRVWAVTS	RLRRGLHTNRCGWVWAVTS	8.0	10.0	-	-	4244_11:134127059-134127059 C>T_RLRRGLHTNRCGWVWAVTS
2:241697879-241697879 C>T	0.0	4244	COLON	-	-	-	-	KIF1A	uc002vzz.2,p.R827H|NM_004321,p.R818H|ENST00000404283,p.R827H|ENST00000498729,p.R827H|uc031rsb.1,p.R818H|uc010fzk.3,p.R827H|NM_001244008,p.R827H|ENST00000320389,p.R818H	retained_intron, protein_coding	uc031rsb.1	nonsynonymous SNV	exon24	c.G2453A	p.R818H	RQRLDLMREMYDRAAEVPSSVIEDC	RQRLDLMREMYDHAAEVPSSVIEDC	2.0	10.0	unscreened	-	4244_2:241697879-241697879 C>T_RQRLDLMREMYDHAAEVPSSVIEDC
7:143884697-143884697 C>G	1.0	4244	COLON	-	-	-	-	ARHGEF35	NM_001003702,p.Q260H|ENST00000378115,p.Q260H|ENST00000543357,p.Q260H|uc022aog.1,p.Q260H|uc003wdz.2,p.Q260H	protein_coding	uc022aog.1	nonsynonymous SNV	exon1	c.G780C	p.Q260H	EDVCADGLLGEEQMIEQVNDEKGEQ	EDVCADGLLGEEHMIEQVNDEKGEQ	7.0	4.0	-	-	4244_7:143884697-143884697 C>G_EDVCADGLLGEEHMIEQVNDEKGEQ
7:51111341-51111341 G>A	1.0	4244	COLON	-	-	-	-	COBL	uc010kzc.3,p.P382L|uc003tpp.4,p.P168L|uc003tpq.4,p.P323L|NM_001287436,p.P439L|ENST00000395542,p.P464L|uc003tpr.4,p.P382L|uc003tps.3,p.P439L|uc011kcl.2,p.P382L|ENST00000265136,p.P382L|ENST00000431948,p.P267L|NM_015198,p.P382L|ENST00000445054,p.P274L	retained_intron, protein_coding	uc011kcl.2	nonsynonymous SNV	exon8	c.C1145T	p.P382L	LGSGSHCSPDGAPQVLSEAEETVSV	LGSGSHCSPDGALQVLSEAEETVSV	8.0	9.0	-	-	4244_7:51111341-51111341 G>A_LGSGSHCSPDGALQVLSEAEETVSV
4:41635000-41635000 C>G	0.0	4244	COLON	-	-	-	-	LIMCH1	uc003gvz.4,p.S576C|ENST00000503057,p.S576C	protein_coding, processed_transcript	uc003gvz.4	nonsynonymous SNV	exon12	c.C1727G	p.S576C	LGECPRGTEEVTSKQLPQDGKEETE	LGECPRGTEEVTCKQLPQDGKEETE	7.0	4.0	unscreened	-	4244_4:41635000-41635000 C>G_LGECPRGTEEVTCKQLPQDGKEETE
9:139835418-139835418 G>A	1.0	4244	COLON	-	-	-	-	FBXW5	uc004cjz.3,p.R285C|uc004cjx.3,p.R555C|uc004cjy.3,p.R303C|NM_018998,p.R555C|ENST00000325285,p.R555C	protein_coding, processed_transcript	uc004cjz.3	nonsynonymous SNV	exon8	c.C853T	p.R285C	TMRVLQAPRPRPRTFFSWLASQRR	TMRVLQAPRPRPCTFFSWLASQRR	10.0	8.0	-	-	4244_9:139835418-139835418 G>A_TMRVLQAPRPRPCTFFSWLASQRR
12:31242869-31242869 G>A	1.0	4244	COLON	-	rs201738430	-	-	DDX11	ENST00000542129,p.R281K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000542129	nonsynonymous SNV	exon8	c.G842A	p.R281K	ELRRRSQRGGGRRSRQPAPSTTTSR	ELRRRSQRGGGRKSRQPAPSTTTSR	8.0	3.0	unscreened	-	4244_12:31242869-31242869 G>A_ELRRRSQRGGGRKSRQPAPSTTTSR
X:71417303-71417303 A>C	1.0	4244	COLON	-	-	-	-	PIN4	NM_006223,p.K133T|ENST00000373669,p.K133T|uc004eam.3,p.K133T	protein_coding, nonsense_mediated_decay	uc004eam.3	nonsynonymous SNV	exon4	c.A398C	p.K133T	EAAFALPVSGMDKPVFTDPPVKTKF	EAAFALPVSGMDTPVFTDPPVKTKF	9.0	1.0	-	-	4244_X:71417303-71417303 A>C_EAAFALPVSGMDTPVFTDPPVKTKF
7:21583035-21583035 C>T	0.0	4244	COLON	-	-	-	-	DNAH11	uc031swp.1,p.R58W|ENST00000409508,p.R58W|NM_001277115,p.R58W|ENST00000328843,p.R58W	retained_intron, protein_coding, processed_transcript	uc031swp.1	nonsynonymous SNV	exon1	c.C172T	p.R58W	AARRARSFAQDARVRFLGGRLAMML	AARRARSFAQDAWVRFLGGRLAMML	4.0	9.0	unscreened	-	4244_7:21583035-21583035 C>T_AARRARSFAQDAWVRFLGGRLAMML
5:148384281-148384281 G>A	1.0	4244	COLON	-	-	-	-	SH3TC2	uc003lpt.3,p.A834V|NM_024577,p.A1287V|ENST00000502274,p.A149V|ENST00000512049,p.A1280V|uc003lpu.3,p.A1287V|uc010jgx.3,p.A1280V|ENST00000515425,p.A1287V|uc010jgw.3,p.A931V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jgx.3	nonsynonymous SNV	exon17	c.C3839T	p.A1280V	SERARWLSGGGLAL	SERARWLSGGGLVL	7.0	7.0	-	-	4244_5:148384281-148384281 G>A_SERARWLSGGGLVL
11:44931380-44931380 G>C	0.0	4244	COLON	-	-	-	-	TSPAN18	ENST00000520358,p.G63A|ENST00000533786,p.G63A|NM_130783,p.G63A|ENST00000340160,p.G63A|ENST00000520999,p.G73A|uc001mye.4,p.G63A|ENST00000533202,p.G63A|uc001myg.3,p.G63A	retained_intron, protein_coding	uc001myg.3	nonsynonymous SNV	exon2	c.G188C	p.G63A	LLTGAYILLAMGGLLFLLGFLGCCG	LLTGAYILLAMGALLFLLGFLGCCG	7.0	9.0	unscreened	-	4244_11:44931380-44931380 G>C_LLTGAYILLAMGALLFLLGFLGCCG
1:186303541-186303541 T>C	1.0	4244	COLON	-	-	-	1	TPR	NM_003292,p.M1700V|uc001grv.3,p.M1700V|ENST00000367478,p.M1700V	retained_intron, protein_coding, processed_transcript	uc001grv.3	nonsynonymous SNV	exon36	c.A5098G	p.M1700V	GNKSTPRASIRPMVTPATVTNPTTT	GNKSTPRASIRPVVTPATVTNPTTT	10.0	10.0	-	-	4244_1:186303541-186303541 T>C_GNKSTPRASIRPVVTPATVTNPTTT
2:109237863-109237863 G>C	0.0	4244	COLON	-	-	-	-	LIMS1	uc002tej.3,p.R18T|ENST00000409441,p.R18T|NM_001193484,p.R18T|ENST00000422797,p.R18T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tej.3	nonsynonymous SNV	exon1	c.G53C	p.R18T	LKELSHSGLYRRRRDRPDSLRVNGL	LKELSHSGLYRRTRDRPDSLRVNGL	9.0	4.0	unscreened	-	4244_2:109237863-109237863 G>C_LKELSHSGLYRRTRDRPDSLRVNGL
18:48248327-48248327 G>C	0.0	4244	COLON	-	-	-	-	MAPK4	uc010xdm.2,p.Q26H|ENST00000400384,p.Q237H|uc002lev.3,p.Q237H|ENST00000540640,p.Q26H|NM_002747,p.Q237H|NM_001292039,p.Q26H	protein_coding, processed_transcript	uc010xdm.2	nonsynonymous SNV	exon3	c.G78C	p.Q26H	GRMLFAGAHELEQMQLILETIPVIR	GRMLFAGAHELEHMQLILETIPVIR	3.0	6.0	unscreened	-	4244_18:48248327-48248327 G>C_GRMLFAGAHELEHMQLILETIPVIR
20:58486855-58486855 A>C	0.0	4244	COLON	-	-	-	-	SYCP2	uc002yaz.3,p.F308V|ENST00000371001,p.F308V|NM_014258,p.F308V|ENST00000446834,p.F308V|uc010gju.1,p.F209V|ENST00000357552,p.F308V	retained_intron, protein_coding, processed_transcript	uc010gju.1	nonsynonymous SNV	exon9	c.T625G	p.F209V	PSDEKLEEFWIDFNLGSQTLSFYIA	PSDEKLEEFWIDVNLGSQTLSFYIA	5.0	4.0	unscreened	-	4244_20:58486855-58486855 A>C_PSDEKLEEFWIDVNLGSQTLSFYIA
19:29703961-29703961 A>C	1.0	4244	COLON	-	-	-	-	UQCRFS1	uc002nsd.2,p.V22G|ENST00000304863,p.V22G|NM_006003,p.V22G	protein_coding	uc002nsd.2	nonsynonymous SNV	exon1	c.T65G	p.V22G	PFAPVLSATSRGVAGALRPLVQATV	PFAPVLSATSRGGAGALRPLVQATV	10.0	4.0	-	-	4244_19:29703961-29703961 A>C_PFAPVLSATSRGGAGALRPLVQATV
5:66396329-66396329 T>G	0.0	4244	COLON	-	-	-	-	MAST4	uc011cra.1,p.F121V|NM_001290226,p.F121V|ENST00000403625,p.F327V|uc021xzk.1,p.F327V|NM_015183,p.F138V|ENST00000436277,p.F133V|ENST00000404260,p.F330V|uc003juu.1,p.F148V|uc003jut.2,p.F138V|uc003juv.2,p.F133V|NM_001164664,p.F327V|NM_001290227,p.F133V|ENST00000405643,p.F148V|uc003juw.3,p.F133V|ENST00000403666,p.F138V|NM_001297651,p.F133V|ENST00000447738,p.F133V|ENST00000261569,p.F133V|ENST00000490016,p.F138V|uc003jus.3,p.F138V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xzk.1	nonsynonymous SNV	exon8	c.T979G	p.F327V	QLPYQPTPDELHFLSKHFCTTESIA	QLPYQPTPDELHVLSKHFCTTESIA	8.0	3.0	unscreened	-	4244_5:66396329-66396329 T>G_QLPYQPTPDELHVLSKHFCTTESIA
2:54877040-54877040 G>A	1.0	4244	COLON	-	-	-	-	SPTBN1	NM_003128,p.E1831K|uc002rxx.3,p.E1818K|NM_178313,p.E1818K|ENST00000356805,p.E1831K|uc002rxu.3,p.E1831K|ENST00000333896,p.E1818K	retained_intron, protein_coding	uc002rxx.3	nonsynonymous SNV	exon25	c.G5452A	p.E1818K	GRIQDKHKKLPEELGRDQNTVETLQ	GRIQDKHKKLPEKLGRDQNTVETLQ	10.0	5.0	-	-	4244_2:54877040-54877040 G>A_GRIQDKHKKLPEKLGRDQNTVETLQ
17:7577094-7577094 G>A	1.0	4244	COLON	-	-	ID=COSM3378339,COSM99925,COSM1636702,COSM10704;OCCURENCE=17(ovary),3(endometrium),1(salivary_gland),9(skin),22(breast),2(prostate),148(large_intestine),4(biliary_tract),12(urinary_tract),5(liver),17(pancreas),1(thymus),36(central_nervous_system),34(stomach),4(vulva),55(oesophagus),37(upper_aerodigestive_tract),2(bone),2(thyroid),20(lung),2(peritoneum),7(haematopoietic_and_lymphoid_tissue)	1	TP53	uc002gih.3,p.R282W|NM_000546,p.R282W|NM_001126112,p.R282W|ENST00000445888,p.R282W|uc031qyq.1,p.R243W|NM_001126117,p.R150W|NM_001276699,p.R123W|ENST00000359597,p.R282W|NM_001126114,p.R282W|NM_001276697,p.R123W|NM_001126116,p.R150W|ENST00000455263,p.R282W|uc010cnf.2,p.R123W|uc002gii.2,p.R123W|NM_001276760,p.R243W|NM_001126113,p.R282W|NM_001126118,p.R243W|NM_001276696,p.R243W|ENST00000269305,p.R282W|NM_001276698,p.R123W|uc002gij.3,p.R243W|NM_001276695,p.R243W|uc010cng.2,p.R123W|NM_001126115,p.R150W|ENST00000509690,p.R150W|ENST00000420246,p.R282W|NM_001276761,p.R243W	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon7	c.C727T	p.R243W	FEVRVCACPGRDRRTEEENLRKKGE	FEVRVCACPGRDWRTEEENLRKKGE	9.0	10.0	-	-	4244_17:7577094-7577094 G>A_FEVRVCACPGRDWRTEEENLRKKGE
19:54871655-54871655 G>A	1.0	4244	COLON	-	-	-	-	LAIR1	ENST00000391741,p.R99W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000391741	nonsynonymous SNV	exon4	c.C295T	p.R99W	RIDSKPLEARTPRTQSPAPQLDPRR	RIDSKPLEARTPWTQSPAPQLDPRR	9.0	7.0	-	-	4244_19:54871655-54871655 G>A_RIDSKPLEARTPWTQSPAPQLDPRR
1:213414644-213414644 G>A	1.0	4244	COLON	0.0005	-	-	-	RPS6KC1	uc010ptt.2,p.A397T|uc001hkd.3,p.A597T|uc010ptu.2,p.A428T|uc010ptv.2,p.A144T|uc010ptr.2,p.A609T|ENST00000366959,p.A597T|uc010pts.2,p.A397T|NM_001287221,p.A428T|ENST00000543354,p.A312T|ENST00000366960,p.A609T|uc001hke.3,p.A428T|NM_012424,p.A609T|ENST00000543470,p.A397T|NM_001287218,p.A397T|NM_001136138,p.A597T|NM_001287219,p.A397T|NM_001287220,p.A144T	protein_coding, processed_transcript	uc010ptv.2	nonsynonymous SNV	exon9	c.G430A	p.A144T	PMEFFRIDSKDSASELLGLDFGEKL	PMEFFRIDSKDSTSELLGLDFGEKL	7.0	10.0	-	-	4244_1:213414644-213414644 G>A_PMEFFRIDSKDSTSELLGLDFGEKL
1:169824103-169824103 C>T	1.0	4244	COLON	-	-	-	-	SCYL3	uc001ggs.3,p.D493N|NM_181093,p.D493N|ENST00000367772,p.D493N|ENST00000367770,p.D493N	protein_coding, processed_transcript	uc001ggs.3	nonsynonymous SNV	exon13	c.G1477A	p.D493N	QRDYYNTLLQTGDPFSQPIKFPING	QRDYYNTLLQTGNPFSQPIKFPING	7.0	3.0	-	-	4244_1:169824103-169824103 C>T_QRDYYNTLLQTGNPFSQPIKFPING
3:42906230-42906230 G>A	0.0	4244	COLON	-	-	-	-	ACKR2	ENST00000422265,p.R79Q|NM_001296,p.R79Q|uc003cmf.3,p.R79Q|ENST00000273145,p.R79Q|uc021wwm.1,p.R79Q|ENST00000442925,p.R79Q|uc003cme.3,p.R79Q	protein_coding, processed_transcript	uc021wwm.1	nonsynonymous SNV	exon1	c.G236A	p.R79Q	LLMVLLRYVPRRRMVEIYLLNLAIS	LLMVLLRYVPRRQMVEIYLLNLAIS	4.0	4.0	unscreened	-	4244_3:42906230-42906230 G>A_LLMVLLRYVPRRQMVEIYLLNLAIS
3:38629016-38629016 G>A	0.0	4244	COLON	-	-	-	-	SCN5A	uc021wvw.1,p.L382F|uc021wvn.1,p.L771F|NM_198056,p.L771F|ENST00000443581,p.L771F|ENST00000425664,p.L771F|NM_001099405,p.L771F|uc021wvt.1,p.L771F|ENST00000333535,p.L771F|ENST00000449557,p.L771F|uc021wvv.1,p.L771F|uc021wvo.1,p.L771F|NM_001160161,p.L771F|ENST00000450102,p.L771F|ENST00000413689,p.L771F|uc021wvl.1,p.L771F|ENST00000455624,p.L771F|uc021wvp.1,p.L771F|uc021wvi.1,p.L637F|ENST00000423572,p.L771F|ENST00000451551,p.L771F|ENST00000414099,p.L771F|uc021wvj.1,p.L637F|NM_000335,p.L771F|uc021wvq.1,p.L771F|uc021wvm.1,p.L771F|NM_001160160,p.L771F|uc021wvs.1,p.L771F|NM_001099404,p.L771F|uc021wvk.1,p.L771F|uc021wvr.1,p.L771F|uc021wvu.1,p.L771F	retained_intron, protein_coding, processed_transcript	uc021wvw.1	nonsynonymous SNV	exon6	c.C1144T	p.L382F	IFTAEMTFKIIALDPYYYFQQGWNI	IFTAEMTFKIIAFDPYYYFQQGWNI	3.0	9.0	unscreened	-	4244_3:38629016-38629016 G>A_IFTAEMTFKIIAFDPYYYFQQGWNI
3:186507958-186507958 C>G	1.0	4244	COLON	-	-	-	-	RFC4	NM_002916,p.Q323H|ENST00000433496,p.Q296H|ENST00000296273,p.Q323H|NM_181573,p.Q323H|uc003fqz.3,p.Q323H|ENST00000392481,p.Q323H|uc011bsc.2,p.Q323H	retained_intron, protein_coding, nonsense_mediated_decay	uc011bsc.2	nonsynonymous SNV	exon10	c.G969C	p.Q323H	HDVVVENNLSDKQKSIITEKLAEVD	HDVVVENNLSDKHKSIITEKLAEVD	9.0	4.0	-	-	4244_3:186507958-186507958 C>G_HDVVVENNLSDKHKSIITEKLAEVD
1:156640696-156640696 G>A	1.0	4244	COLON	-	-	ID=COSM1295244;OCCURENCE=1(urinary_tract)	-	NES	ENST00000368223,p.A1095V|uc001fpq.3,p.A1095V|NM_006617,p.A1095V|uc021pbh.1,p.A13V	protein_coding	uc021pbh.1	nonsynonymous SNV	exon1	c.C38T	p.A13V	MLGSEPAMGESAAGAEPGPGQGVGG	MLGSEPAMGESAVGAEPGPGQGVGG	9.0	10.0	-	-	4244_1:156640696-156640696 G>A_MLGSEPAMGESAVGAEPGPGQGVGG
7:149129395-149129395 G>C	1.0	4244	COLON	-	-	-	-	ZNF777	NM_015694,p.I656M|uc003wfv.3,p.I656M|ENST00000247930,p.I656M	protein_coding	uc003wfv.3	nonsynonymous SNV	exon6	c.C1968G	p.I656M	SFSHKSSLTKHQITHTGERPYTCPE	SFSHKSSLTKHQMTHTGERPYTCPE	7.0	5.0	-	-	4244_7:149129395-149129395 G>C_SFSHKSSLTKHQMTHTGERPYTCPE
19:41025619-41025619 C>T	0.0	4244	COLON	-	-	-	-	SPTBN4	uc002ony.3,p.A1072V|uc002onx.3,p.A1072V|ENST00000595535,p.A1072V|NM_020971,p.A1072V|ENST00000352632,p.A1072V|ENST00000597389,p.A464V|ENST00000598249,p.A1072V|ENST00000344104,p.A1072V|uc002onz.3,p.A1072V|ENST00000338932,p.A1072V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002onz.3	nonsynonymous SNV	exon16	c.C3215T	p.A1072V	HQGAEELGAEWGALASAAQACGEAV	HQGAEELGAEWGVLASAAQACGEAV	4.0	10.0	unscreened	-	4244_19:41025619-41025619 C>T_HQGAEELGAEWGVLASAAQACGEAV
12:104054476-104054476 C>G	0.0	4244	COLON	-	-	-	-	STAB2	uc001tjw.3,p.L602V|ENST00000388887,p.L602V|NM_017564,p.L602V	retained_intron, protein_coding, nonsense_mediated_decay	uc001tjw.3	nonsynonymous SNV	exon17	c.C1804G	p.L602V	HIVPFTQLEVATLISTPHIRSMANQ	HIVPFTQLEVATVISTPHIRSMANQ	3.0	1.0	unscreened	-	4244_12:104054476-104054476 C>G_HIVPFTQLEVATVISTPHIRSMANQ
22:19711781-19711781 G>A	0.0	4244	COLON	-	-	-	-	GP1BB	NM_000407,p.A139T|ENST00000366425,p.A139T|uc002zpz.2,p.A139T	protein_coding	uc002zpz.2	nonsynonymous SNV	exon12	c.G415A	p.A139T	RLLPYLAEDELRAACAPGPLCWGAL	RLLPYLAEDELRTACAPGPLCWGAL	6.0	9.0	unscreened	-	4244_22:19711781-19711781 G>A_RLLPYLAEDELRTACAPGPLCWGAL
18:22804658-22804658 C>T	0.0	4244	COLON	-	-	-	1	ZNF521	uc002kvk.2,p.R1075H|uc002kvl.2,p.R855H|ENST00000399425,p.R1075H|ENST00000584787,p.R855H|uc010dly.2,p.R1075H|ENST00000361524,p.R1075H|NM_015461,p.R1075H|ENST00000538137,p.R1075H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dly.2	nonsynonymous SNV	exon4	c.G3224A	p.R1075H	KLYKCASCLKEFRSKQDLVKLDING	KLYKCASCLKEFHSKQDLVKLDING	6.0	8.0	unscreened	-	4244_18:22804658-22804658 C>T_KLYKCASCLKEFHSKQDLVKLDING
4:5841274-5841274 C>T	0.0	4244	COLON	-	-	-	-	CRMP1	uc003giq.3,p.D315N|NM_001313,p.D315N|ENST00000324989,p.D429N|uc003gir.3,p.D310N|NM_001014809,p.D429N|NM_001288662,p.D309N|uc003gis.3,p.D429N|ENST00000512574,p.D313N|ENST00000397890,p.D315N|NM_001288661,p.D313N	protein_coding, processed_transcript	uc003gis.3	nonsynonymous SNV	exon9	c.G1285A	p.D429N	TSPPLSPDPTTPDYLTSLLACGDLQ	TSPPLSPDPTTPNYLTSLLACGDLQ	6.0	10.0	unscreened	-	4244_4:5841274-5841274 C>T_TSPPLSPDPTTPNYLTSLLACGDLQ
19:57956059-57956059 C>G	0.0	4244	COLON	-	-	-	-	ZNF749	uc002qoq.2,p.Q515E|NM_001023561,p.Q515E|ENST00000334181,p.Q515E	protein_coding, processed_transcript	uc002qoq.2	nonsynonymous SNV	exon3	c.C1543G	p.Q515E	KIHTGERPYECTQCAKAFVRKSHLV	KIHTGERPYECTECAKAFVRKSHLV	7.0	2.0	unscreened	-	4244_19:57956059-57956059 C>G_KIHTGERPYECTECAKAFVRKSHLV
11:95712840-95712840 C>T	1.0	4244	COLON	-	-	-	1	MAML2	uc001pfw.1,p.G915R|ENST00000524717,p.G915R|NM_032427,p.G915R	protein_coding	uc001pfw.1	nonsynonymous SNV	exon5	c.G2743A	p.G915R	QNNPMMPRPPTLGPSNNNNVATFGA	QNNPMMPRPPTLRPSNNNNVATFGA	6.0	6.0	-	-	4244_11:95712840-95712840 C>T_QNNPMMPRPPTLRPSNNNNVATFGA
10:26241113-26241113 A>C	0.0	4244	COLON	-	-	-	-	MYO3A	ENST00000376302,p.E25A|uc001ism.2,p.E25A|uc009xkq.1,p.E25A|uc001isn.2,p.E25A|ENST00000543632,p.E25A|ENST00000265944,p.E25A|NM_017433,p.E25A|uc009xko.1,p.E25A|ENST00000376301,p.E25A	protein_coding, processed_transcript	uc009xkq.1	nonsynonymous SNV	exon2	c.A74C	p.E25A	NFPDPSDTWEITETIGKGTYGKVFK	NFPDPSDTWEITATIGKGTYGKVFK	1.0	8.0	unscreened	-	4244_10:26241113-26241113 A>C_NFPDPSDTWEITATIGKGTYGKVFK
12:85449913-85449913 A>C	0.0	4244	COLON	-	-	-	-	LRRIQ1	NM_001079910,p.K448Q|uc001tac.3,p.K448Q|uc021rbo.1,p.K326Q|uc001taa.1,p.K423Q|ENST00000393217,p.K448Q	retained_intron, protein_coding, nonsense_mediated_decay	uc021rbo.1	nonsynonymous SNV	exon4	c.A976C	p.K326Q	DVLLWLVEESNMKENVDRQTILKES	DVLLWLVEESNMQENVDRQTILKES	5.0	9.0	unscreened	-	4244_12:85449913-85449913 A>C_DVLLWLVEESNMQENVDRQTILKES
2:198643766-198643766 A>T	0.0	4244	COLON	-	-	-	-	BOLL	ENST00000433157,p.F52I|uc002uur.2,p.F58I|NM_001284361,p.F58I|NM_197970,p.F64I|NM_001284362,p.F58I|uc002uus.2,p.F52I|ENST00000430004,p.F52I|ENST00000392296,p.F52I|ENST00000434976,p.F64I|uc002uut.2,p.F64I|uc002uuu.1,p.F58I|ENST00000321801,p.F64I|NM_033030,p.F52I	protein_coding, processed_transcript, nonsense_mediated_decay	uc002uuu.1	nonsynonymous SNV	exon3	c.T172A	p.F58I	IDFKTNESDLRKFFSQYGSVKEVKI	IDFKTNESDLRKIFSQYGSVKEVKI	1.0	8.0	unscreened	-	4244_2:198643766-198643766 A>T_IDFKTNESDLRKIFSQYGSVKEVKI
2:7179796-7179796 T>G	0.0	4244	COLON	-	-	-	-	RNF144A	uc002qys.3,p.L262V|NM_014746,p.L262V|ENST00000320892,p.L262V	retained_intron, protein_coding, processed_transcript	uc002qys.3	nonsynonymous SNV	exon9	c.T784G	p.L262V	VVGIFAGFGLLLLVASPFLLLATPF	VVGIFAGFGLLLVVASPFLLLATPF	6.0	5.0	unscreened	-	4244_2:7179796-7179796 T>G_VVGIFAGFGLLLVVASPFLLLATPF
12:9907755-9907755 T>C	0.0	4244	COLON	-	-	-	-	CD69	uc010sgv.1,p.Y97C|uc001qwk.3,p.Y97C|ENST00000228434,p.Y97C|NM_001781,p.Y97C|uc010sgu.2,p.Y97C|ENST00000536709,p.Y97C	retained_intron, protein_coding	uc010sgv.1	nonsynonymous SNV	exon3	c.A290G	p.Y97C	CSEDWVGYQRKCYFISTVKRSWTSA	CSEDWVGYQRKCCFISTVKRSWTSA	7.0	1.0	unscreened	-	4244_12:9907755-9907755 T>C_CSEDWVGYQRKCCFISTVKRSWTSA
2:210594609-210594609 G>C	0.0	4244	COLON	-	-	-	-	MAP2	ENST00000447185,p.D1727H|NM_031845,p.D375H|NM_001039538,p.D463H|ENST00000361559,p.D375H|uc002vdh.1,p.D432H|uc002vdf.1,p.D406H|uc002vdg.1,p.D375H|ENST00000360351,p.D1731H|ENST00000199940,p.D463H|uc002vde.1,p.D1731H|ENST00000392194,p.D375H|uc002vdd.1,p.D463H|NM_031847,p.D406H|NM_002374,p.D1731H|uc002vdi.1,p.D1727H	retained_intron, protein_coding, processed_transcript	uc002vdi.1	nonsynonymous SNV	exon11	c.G5179C	p.D1727H	GGGRVKIESVKLDFKEKAQAKVGSL	GGGRVKIESVKLHFKEKAQAKVGSL	5.0	3.0	unscreened	-	4244_2:210594609-210594609 G>C_GGGRVKIESVKLHFKEKAQAKVGSL
X:78011370-78011370 A>C	0.0	4244	COLON	-	-	-	-	LPAR4	ENST00000373301,p.K335T|uc010nme.3,p.K335T|uc022bzj.1,p.K335T|ENST00000435339,p.K335T|uc031tjz.1,p.K335T|NM_005296,p.K335T|NM_001278000,p.K335T	protein_coding	uc031tjz.1	nonsynonymous SNV	exon5	c.A1004C	p.K335T	YINAHIRMESLFKTETPLTTKPSLP	YINAHIRMESLFTTETPLTTKPSLP	4.0	3.0	unscreened	-	4244_X:78011370-78011370 A>C_YINAHIRMESLFTTETPLTTKPSLP
11:125776101-125776101 G>A	0.0	4244	COLON	-	-	-	-	DDX25	NM_013264,p.R103Q|ENST00000263576,p.R103Q|uc010sbk.3,p.R103Q|ENST00000530129,p.R115Q|ENST00000530414,p.R106Q|uc001qcz.5,p.R103Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sbk.3	nonsynonymous SNV	exon4	c.G308A	p.R103Q	SPLYSVKTFEELRLKEELLKGIYAM	SPLYSVKTFEELQLKEELLKGIYAM	3.0	9.0	unscreened	-	4244_11:125776101-125776101 G>A_SPLYSVKTFEELQLKEELLKGIYAM
9:43915434-43915434 T>C	0.0	4244	COLON	-	rs78695208	-	-	CNTNAP3B	uc004ada.2,p.F1173L|ENST00000377564,p.F1173L	protein_coding, processed_transcript, nonsense_mediated_decay	uc004ada.2	nonsynonymous SNV	exon22	c.T3517C	p.F1173L	TSGFTGCLSAVRFGRAAPLKAALRP	TSGFTGCLSAVRLGRAAPLKAALRP	4.0	6.0	unscreened	-	4244_9:43915434-43915434 T>C_TSGFTGCLSAVRLGRAAPLKAALRP
2:210590460-210590460 C>G	0.0	4244	COLON	-	-	-	-	MAP2	NM_031847,p.L376V|ENST00000199940,p.L433V|uc002vdd.1,p.L433V|NM_001039538,p.L433V|uc002vdf.1,p.L376V	retained_intron, protein_coding, processed_transcript	uc002vdf.1	nonsynonymous SNV	exon11	c.C1126G	p.L376V	GGNVQIVTKKIDLSHVTSKCGSLKN	GGNVQIVTKKIDVSHVTSKCGSLKN	5.0	5.0	unscreened	-	4244_2:210590460-210590460 C>G_GGNVQIVTKKIDVSHVTSKCGSLKN
2:210590460-210590460 C>G	0.0	4244	COLON	-	-	-	-	MAP2	ENST00000360351,p.L1701V|uc002vdi.1,p.L1697V|uc002vdh.1,p.L402V|ENST00000447185,p.L1697V|ENST00000361559,p.L345V|uc002vde.1,p.L1701V|NM_031845,p.L345V|ENST00000392194,p.L345V|NM_002374,p.L1701V|uc002vdg.1,p.L345V	retained_intron, protein_coding, processed_transcript	uc002vdi.1	nonsynonymous SNV	exon10	c.C5089G	p.L1697V	GGQVQIVTKKIDLSHVTSKCGSLKN	GGQVQIVTKKIDVSHVTSKCGSLKN	5.0	5.0	unscreened	-	4244_2:210590460-210590460 C>G_GGQVQIVTKKIDVSHVTSKCGSLKN
5:82816854-82816854 C>G	0.0	4244	COLON	-	-	-	-	VCAN	uc003kii.3,p.T910R|NM_001164098,p.T910R|ENST00000512590,p.T862R|ENST00000265077,p.T910R|NM_004385,p.T910R|ENST00000342785,p.T910R|uc010jau.2,p.T910R	retained_intron, protein_coding, processed_transcript	uc010jau.2	nonsynonymous SNV	exon7	c.C2729G	p.T910R	RDSTTEEKVPPITSTEGQVYATMEG	RDSTTEEKVPPIRSTEGQVYATMEG	10.0	4.0	unscreened	-	4244_5:82816854-82816854 C>G_RDSTTEEKVPPIRSTEGQVYATMEG
16:67716-67716 C>T	1.0	4244	COLON	-	-	-	-	MIR6859-1,MIR6859-2	ENST00000538848,p.A126T	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000538848	nonsynonymous SNV	exon4	c.G376A	p.A126T	RCSPVPSTLLQSACRNMAPSSPTPR	RCSPVPSTLLQSTCRNMAPSSPTPR	9.0	7.0	-	-	4244_16:67716-67716 C>T_RCSPVPSTLLQSTCRNMAPSSPTPR
10:123843108-123843108 G>A	0.0	4244	COLON	-	-	-	-	TACC2	NM_001291876,p.E365K|ENST00000453444,p.E365K|uc010qtv.2,p.E365K|uc001lfv.3,p.E365K|ENST00000515603,p.E365K|ENST00000334433,p.E365K|ENST00000515273,p.E365K|ENST00000369005,p.E365K|NM_206862,p.E365K|uc009xzx.3,p.E365K|NM_001291877,p.E365K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qtv.2	nonsynonymous SNV	exon4	c.G1093A	p.E365K	PALVPEAGGSGKEALDTIDVQGHPQ	PALVPEAGGSGKKALDTIDVQGHPQ	9.0	4.0	unscreened	-	4244_10:123843108-123843108 G>A_PALVPEAGGSGKKALDTIDVQGHPQ
3:100065086-100065086 C>G	1.0	4244	COLON	-	-	-	-	NIT2	uc011bha.1,p.S133C	retained_intron, protein_coding, nonsense_mediated_decay	uc011bha.1	nonsynonymous SNV	exon5	c.C398G	p.S133C	SATTCGLQSLHKSTHREAASCWYIQ	SATTCGLQSLHKCTHREAASCWYIQ	10.0	4.0	-	-	4244_3:100065086-100065086 C>G_SATTCGLQSLHKCTHREAASCWYIQ
14:105179863-105179863 G>A	1.0	4244	COLON	-	-	-	-	INF2	ENST00000392634,p.R987Q|uc001ypb.2,p.R987Q|NM_001031714,p.R987Q|ENST00000330634,p.R987Q|uc001ypc.2,p.R987Q|NM_022489,p.R987Q|ENST00000252527,p.R455Q	retained_intron, protein_coding, nonsense_mediated_decay	uc001ypc.2	nonsynonymous SNV	exon20	c.G2960A	p.R987Q	ALLADIRKGFQLRKTARGRGDTDGG	ALLADIRKGFQLQKTARGRGDTDGG	10.0	4.0	-	-	4244_14:105179863-105179863 G>A_ALLADIRKGFQLQKTARGRGDTDGG
2:219520895-219520895 ->G	0.0	4244	COLON	-	-	-	-	ZNF142	ENST00000433921,p.P86fs|ENST00000450765,p.P86fs	protein_coding, nonsense_mediated_decay	ENST00000450765	frameshift insertion	exon4	c.257dupC	p.P86fs	EIIVETVAGTLTPGAPGETPATAAS	EIIVETVAGTLTPRCSWRDPSHCSFI	6.0	7.0	unscreened	 reached end of cDNA	4244_2:219520895-219520895 ->G_EIIVETVAGTLTPRCSWRDPSHCSFI
7:89854485-89854485 A>C	0.0	4244	COLON	-	-	-	-	STEAP2	ENST00000394622,p.K30T|ENST00000394626,p.K30T|uc003ukb.3,p.K30T|uc003ujy.2,p.K72T|NM_001244945,p.K30T|NM_152999,p.K30T|uc003uka.3,p.K30T|ENST00000402625,p.K30T|uc003ukd.3,p.K30T|ENST00000428074,p.K30T|NM_001040665,p.K30T|uc003ukc.3,p.K30T|ENST00000287908,p.K30T|uc003ujz.3,p.K30T|ENST00000394621,p.K30T|ENST00000394629,p.K30T|NM_001040666,p.K30T|NM_001244944,p.K30T|ENST00000426158,p.K30T|uc010len.3,p.K30T|NM_001244946,p.K30T|ENST00000394632,p.K30T	retained_intron, protein_coding	uc010len.3	nonsynonymous SNV	exon3	c.A89C	p.K30T	LPNGINGIKDARKVTVGVIGSGDFA	LPNGINGIKDARTVTVGVIGSGDFA	8.0	3.0	unscreened	-	4244_7:89854485-89854485 A>C_LPNGINGIKDARTVTVGVIGSGDFA
20:42788789-42788789 C>T	0.0	4244	COLON	-	-	-	-	JPH2	uc002xli.1,p.R213Q|ENST00000372980,p.R213Q|NM_020433,p.R213Q	protein_coding	uc002xli.1	nonsynonymous SNV	exon2	c.G638A	p.R213Q	ALSLLANAEAAARAPKGGGLFQRGA	ALSLLANAEAAAQAPKGGGLFQRGA	6.0	9.0	unscreened	-	4244_20:42788789-42788789 C>T_ALSLLANAEAAAQAPKGGGLFQRGA
11:36596082-36596082 C>T	0.0	4244	COLON	-	-	-	-	RAG1	ENST00000534663,p.R410W|ENST00000299440,p.R410W|uc001mwu.4,p.R410W|uc021qgb.1,p.R410W|NM_000448,p.R410W	protein_coding, processed_transcript, nonsense_mediated_decay	uc021qgb.1	nonsynonymous SNV	exon1	c.C1228T	p.R410W	HLLSLTRRAQKHRLRELKLQVKAFA	HLLSLTRRAQKHWLRELKLQVKAFA	5.0	9.0	unscreened	-	4244_11:36596082-36596082 C>T_HLLSLTRRAQKHWLRELKLQVKAFA
1:237787145-237787145 C>G	0.0	4244	COLON	-	-	-	-	RYR2	ENST00000542537,p.F1983L|NM_001035,p.F1999L|ENST00000360064,p.F1997L|uc001hyl.1,p.F1999L|ENST00000366574,p.F1999L	protein_coding, processed_transcript	uc001hyl.1	nonsynonymous SNV	exon39	c.C5997G	p.F1999L	PCPEEIRDQLLDFHEDLMTHCGIEL	PCPEEIRDQLLDLHEDLMTHCGIEL	6.0	1.0	unscreened	-	4244_1:237787145-237787145 C>G_PCPEEIRDQLLDLHEDLMTHCGIEL
2:110373397-110373397 C>G	1.0	4244	COLON	-	-	-	-	SOWAHC	NM_023016,p.S444W|ENST00000356454,p.S444W|uc002tfb.3,p.S444W	protein_coding	uc002tfb.3	nonsynonymous SNV	exon1	c.C1331G	p.S444W	LEDGGDHHHHHHSAEGWVGGKAKDP	LEDGGDHHHHHHWAEGWVGGKAKDP	7.0	5.0	unscreened	-	4244_2:110373397-110373397 C>G_LEDGGDHHHHHHWAEGWVGGKAKDP
6:10804074-10804074 A>G	1.0	4244	COLON	-	-	-	-	MAK	ENST00000538030,p.I181T|ENST00000354489,p.I181T|NM_005906,p.I181T|uc021ylk.1,p.I181T|uc021yll.1,p.I181T|ENST00000536370,p.I181T|ENST00000474039,p.I181T|NM_001242385,p.I181T|ENST00000313243,p.I181T|NM_001242957,p.I181T|uc003mzm.3,p.I181T	protein_coding, processed_transcript	uc021yll.1	nonsynonymous SNV	exon7	c.T542C	p.I181T	EVLLRSSVYSSPIDVWAVGSIMAEL	EVLLRSSVYSSPTDVWAVGSIMAEL	4.0	7.0	-	-	4244_6:10804074-10804074 A>G_EVLLRSSVYSSPTDVWAVGSIMAEL
X:139586187-139586187 C>T	0.0	4244	COLON	-	-	-	-	SOX3	uc004fbd.1,p.A347T|NM_005634,p.A347T|ENST00000370536,p.A347T	protein_coding	uc004fbd.1	nonsynonymous SNV	exon1	c.G1039A	p.A347T	GMAPSATAAAAAAYGQQPATAAAAA	GMAPSATAAAAATYGQQPATAAAAA	1.0	10.0	unscreened	-	4244_X:139586187-139586187 C>T_GMAPSATAAAAATYGQQPATAAAAA
2:179623711-179623711 C>T	0.0	4244	COLON	-	-	-	-	TTN	uc021vsz.2,p.V3389M|NM_133437,p.V3389M|ENST00000342175,p.V3389M	retained_intron, protein_coding	uc021vsz.2	nonsynonymous SNV	exon43	c.G10165A	p.V3389M	GQVSSTANLSLEVQALDRQSSGKDV	GQVSSTANLSLEMQALDRQSSGKDV	5.0	5.0	unscreened	-	4244_2:179623711-179623711 C>T_GQVSSTANLSLEMQALDRQSSGKDV
11:64821976-64821976 G>A	0.0	4244	COLON	-	-	-	-	NAALADL1	ENST00000340252,p.P280S|NM_005468,p.P280S|ENST00000358658,p.P280S|ENST00000339885,p.P280S|uc001ocn.3,p.P280S|ENST00000356632,p.P280S|ENST00000355369,p.P280S|ENST00000355721,p.P239S	retained_intron, protein_coding, nonsense_mediated_decay	uc001ocn.3	nonsynonymous SNV	exon5	c.C838T	p.P280S	FRVDLANVSGFPPIPTQPIGFQDAR	FRVDLANVSGFPSIPTQPIGFQDAR	8.0	1.0	unscreened	-	4244_11:64821976-64821976 G>A_FRVDLANVSGFPSIPTQPIGFQDAR
19:21240432-21240432 G>C	0.0	4244	COLON	-	-	-	-	ZNF430	ENST00000261560,p.E440Q|NM_001172671,p.E439Q|NM_025189,p.E440Q|uc002npk.3,p.E439Q|uc002npj.3,p.E440Q	retained_intron, protein_coding	uc002npk.3	nonsynonymous SNV	exon5	c.G1315C	p.E439Q	PYKCEQCGKAFNESSNLTAHKIIHT	PYKCEQCGKAFNQSSNLTAHKIIHT	7.0	1.0	unscreened	-	4244_19:21240432-21240432 G>C_PYKCEQCGKAFNQSSNLTAHKIIHT
12:40858992-40858992 C>T	0.0	4244	COLON	-	-	-	-	MUC19	ENST00000425730,p.A1242V	retained_intron, protein_coding, processed_transcript	ENST00000425730	nonsynonymous SNV	exon42	c.C3725T	p.A1242V	SVGGKTGATSSEATSSEGMSGVTGQ	SVGGKTGATSSEVTSSEGMSGVTGQ	1.0	10.0	unscreened	-	4244_12:40858992-40858992 C>T_SVGGKTGATSSEVTSSEGMSGVTGQ
11:62298739-62298739 C>A	1.0	4244	COLON	-	-	-	-	AHNAK	NM_001620,p.L1050F|ENST00000378024,p.L1050F|uc001ntl.3,p.L1050F	protein_coding, processed_transcript	uc001ntl.3	nonsynonymous SNV	exon5	c.G3150T	p.L1050F	APDLSLEGPEGKLKGPKFKMPEMHF	APDLSLEGPEGKFKGPKFKMPEMHF	9.0	2.0	-	-	4244_11:62298739-62298739 C>A_APDLSLEGPEGKFKGPKFKMPEMHF
2:11767117-11767117 C>A	0.0	4244	COLON	-	-	-	-	GREB1	uc002rbp.1,p.L444I|NM_014668,p.L1446I|uc002rbk.1,p.L1446I|ENST00000234142,p.L1446I|ENST00000396123,p.L444I|ENST00000381486,p.L1446I	retained_intron, protein_coding	uc002rbp.1	nonsynonymous SNV	exon8	c.C1330A	p.L444I	SEDRGMSRKPEDLYVRRQTARMRLS	SEDRGMSRKPEDIYVRRQTARMRLS	4.0	10.0	unscreened	-	4244_2:11767117-11767117 C>A_SEDRGMSRKPEDIYVRRQTARMRLS
1:227842544-227842544 G>T	0.0	4244	COLON	-	-	-	-	ZNF678	ENST00000343776,p.S198I|uc021pjy.1,p.S253I|uc001hqw.2,p.S198I|NM_178549,p.S253I|ENST00000397097,p.S253I	protein_coding, processed_transcript	uc021pjy.1	nonsynonymous SNV	exon4	c.G758T	p.S253I	CDKVFNWWSQLTSHKKIHSGEKPYP	CDKVFNWWSQLTIHKKIHSGEKPYP	5.0	1.0	unscreened	-	4244_1:227842544-227842544 G>T_CDKVFNWWSQLTIHKKIHSGEKPYP
1:49119115-49119115 C>T	0.0	4244	COLON	-	-	-	-	AGBL4	uc010omy.1,p.D68N	protein_coding, processed_transcript	uc010omy.1	nonsynonymous SNV	exon3	c.G202A	p.D68N	LDLLTITSPGIIDFLVSQHPIACVL	LDLLTITSPGIINFLVSQHPIACVL	3.0	6.0	unscreened	-	4244_1:49119115-49119115 C>T_LDLLTITSPGIINFLVSQHPIACVL
X:75649650-75649650 G>A	0.0	4244	COLON	-	-	-	-	MAGEE1	NM_020932,p.V443M|ENST00000361470,p.V443M|uc004ecm.2,p.V443M	protein_coding	uc004ecm.2	nonsynonymous SNV	exon1	c.G1327A	p.V443M	LVLPSPRVTKASVDSDSEGPKGAEG	LVLPSPRVTKASMDSDSEGPKGAEG	4.0	10.0	unscreened	-	4244_X:75649650-75649650 G>A_LVLPSPRVTKASMDSDSEGPKGAEG
12:110240891-110240891 C>T	0.0	4244	COLON	-	-	-	-	TRPV4	ENST00000538125,p.R206H|ENST00000541794,p.R206H|ENST00000261740,p.R206H|NM_001177431,p.R172H|NM_001177428,p.R206H|uc001tph.2,p.R206H|ENST00000418703,p.R206H|ENST00000544971,p.R206H|uc001tpg.2,p.R172H|NM_001177433,p.R206H|ENST00000346520,p.R206H|uc021rdp.1,p.R206H|ENST00000536838,p.R172H|ENST00000537083,p.R206H|ENST00000392719,p.R206H|uc001tpi.2,p.R206H|uc001tpk.2,p.R206H|uc001tpj.2,p.R206H|NM_021625,p.R206H|NM_147204,p.R206H	protein_coding, processed_transcript, nonsense_mediated_decay	uc021rdp.1	nonsynonymous SNV	exon3	c.G617A	p.R206H	CLPKALLNLSNGRNDTIPVLLDIAE	CLPKALLNLSNGHNDTIPVLLDIAE	6.0	8.0	unscreened	-	4244_12:110240891-110240891 C>T_CLPKALLNLSNGHNDTIPVLLDIAE
4:102946607-102946607 C>T	0.0	4244	COLON	-	-	-	-	BANK1	uc003hvx.4,p.P497L|ENST00000508653,p.P379L|NM_001083907,p.P482L|ENST00000322953,p.P512L|NM_017935,p.P512L|ENST00000444316,p.P482L|uc010ill.3,p.P379L|uc003hvy.4,p.P512L|ENST00000504592,p.P497L|uc003hvz.4,p.P482L|NM_001127507,p.P379L|ENST00000428908,p.P379L	retained_intron, protein_coding, processed_transcript	uc010ill.3	nonsynonymous SNV	exon8	c.C1136T	p.P379L	SQEPLMSSRPPLPPPRPVANAFQLE	SQEPLMSSRPPLLPPRPVANAFQLE	5.0	4.0	unscreened	-	4244_4:102946607-102946607 C>T_SQEPLMSSRPPLLPPRPVANAFQLE
3:179519702-179519702 A>T	0.0	4244	COLON	-	-	-	-	PEX5L	uc011bqd.2,p.S556T|NM_001256750,p.S597T|NM_001256756,p.S407T|NM_001256752,p.S564T|uc003fkj.2,p.S564T|ENST00000465751,p.S575T|uc010hxd.2,p.S597T|ENST00000476138,p.S556T|uc011bqg.2,p.S575T|ENST00000263962,p.S597T|NM_001256754,p.S556T|uc011bqh.2,p.S540T|ENST00000485199,p.S564T|NM_001256751,p.S575T|ENST00000468741,p.S407T|uc003fki.2,p.S599T|uc011bqf.2,p.S491T|uc011bqe.2,p.S407T|NM_016559,p.S599T|NM_001256755,p.S491T|ENST00000392649,p.S491T|ENST00000467460,p.S599T|ENST00000464614,p.S491T|NM_001256753,p.S540T|ENST00000472994,p.S540T	retained_intron, protein_coding, processed_transcript	uc011bqh.2	nonsynonymous SNV	exon13	c.T1618A	p.S540T	SGNIWAALRIALSLMDQPELFQAAN	SGNIWAALRIALTLMDQPELFQAAN	2.0	10.0	unscreened	-	4244_3:179519702-179519702 A>T_SGNIWAALRIALTLMDQPELFQAAN
7:57528927-57528927 G>T	0.0	4244	COLON	-	-	-	-	ZNF716	uc011kdi.1,p.A254S|ENST00000420713,p.A254S|NM_001159279,p.A254S	protein_coding	uc011kdi.1	nonsynonymous SNV	exon4	c.G760T	p.A254S	RCEECGKAFSWSASLTKHKRIHTGE	RCEECGKAFSWSSSLTKHKRIHTGE	1.0	5.0	unscreened	-	4244_7:57528927-57528927 G>T_RCEECGKAFSWSSSLTKHKRIHTGE
14:33291430-33291430 T>G	0.0	4244	COLON	-	-	-	-	AKAP6	ENST00000280979,p.S1471A|uc001wrq.3,p.S1471A|NM_004274,p.S1471A	retained_intron, protein_coding, processed_transcript	uc001wrq.3	nonsynonymous SNV	exon13	c.T4411G	p.S1471A	QGKHDVFTFYDYSYLQGSKLKLPMI	QGKHDVFTFYDYAYLQGSKLKLPMI	4.0	1.0	unscreened	-	4244_14:33291430-33291430 T>G_QGKHDVFTFYDYAYLQGSKLKLPMI
19:22498540-22498540 T>C	0.0	4244	COLON	-	-	-	-	ZNF729	ENST00000357491,p.V774A|uc021urs.1,p.V774A|NM_001242680,p.V774A|ENST00000601693,p.V774A	protein_coding	uc021urs.1	nonsynonymous SNV	exon4	c.T2321C	p.V774A	HTREKLYKCEECVKAFNSFSALMKH	HTREKLYKCEECAKAFNSFSALMKH	1.0	5.0	unscreened	-	4244_19:22498540-22498540 T>C_HTREKLYKCEECAKAFNSFSALMKH
3:27184955-27184955 C>T	0.0	4244	COLON	-	-	-	-	LRRC3B,NEK10	uc010hfk.3,p.M319I|ENST00000429845,p.M1007I|ENST00000295720,p.M319I	retained_intron, protein_coding, processed_transcript	uc010hfk.3	nonsynonymous SNV	exon11	c.G957A	p.M319I	VILRNLKDHGPQMGTFLWQASAGIA	VILRNLKDHGPQIGTFLWQASAGIA	5.0	10.0	unscreened	-	4244_3:27184955-27184955 C>T_VILRNLKDHGPQIGTFLWQASAGIA
11:106558439-106558439 G>A	0.0	4244	COLON	-	-	ID=COSM1686163;OCCURENCE=2(skin)	-	GUCY1A2	NM_000855,p.R679C|NM_001256424,p.R710C|uc001pjg.2,p.R679C|uc010rvo.2,p.R700C|uc001pjf.5,p.R710C|ENST00000526355,p.R679C|ENST00000347596,p.R700C|ENST00000282249,p.R710C	protein_coding	uc010rvo.2	nonsynonymous SNV	exon9	c.C2098T	p.R700C	KREESFTFIPRSREELPDNFPKEIP	KREESFTFIPRSCEELPDNFPKEIP	5.0	10.0	unscreened	-	4244_11:106558439-106558439 G>A_KREESFTFIPRSCEELPDNFPKEIP
10:13708097-13708097 C>T	0.0	4244	COLON	-	-	-	-	FRMD4A	ENST00000378503,p.D535N|uc001ims.3,p.D535N|ENST00000358621,p.D520N|uc009xjf.1,p.D535N|ENST00000357447,p.D535N|NM_018027,p.D535N	protein_coding, processed_transcript	uc009xjf.1	nonsynonymous SNV	exon18	c.G1603A	p.D535N	KKPTQRASLIIDDGNIASEDSSLSD	KKPTQRASLIIDNGNIASEDSSLSD	8.0	9.0	unscreened	-	4244_10:13708097-13708097 C>T_KKPTQRASLIIDNGNIASEDSSLSD
2:179623711-179623711 C>T	0.0	4244	COLON	-	-	-	-	TTN	NM_001267550,p.G3435R|uc021vta.2,p.G3389R|uc031rqc.1,p.G3435R|ENST00000589042,p.G3435R|NM_133432,p.G3389R|ENST00000359218,p.G3389R	retained_intron, protein_coding	uc031rqc.1	nonsynonymous SNV	exon44	c.G10303A	p.G3435R	GQVSSTANLSLEGFSKFEENTSNSQ	GQVSSTANLSLERFSKFEENTSNSQ	5.0	5.0	unscreened	-	4244_2:179623711-179623711 C>T_GQVSSTANLSLERFSKFEENTSNSQ
1:212274385-212274385 C>T	1.0	4244	COLON	-	-	-	-	DTL	NM_001286229,p.P414S|NM_016448,p.P685S|NM_001286230,p.P643S	protein_coding, processed_transcript	NM_016448	nonsynonymous SNV	exon14	c.C2053T	p.P685S	ENPSPRSPSSQTPNSRRQSGKTLPS	ENPSPRSPSSQTSNSRRQSGKTLPS	7.0	4.0	-	-	4244_1:212274385-212274385 C>T_ENPSPRSPSSQTSNSRRQSGKTLPS
5:26890537-26890537 T>G	0.0	4244	COLON	-	-	-	-	CDH9	ENST00000231021,p.N464H|uc003jgs.1,p.N464H|NM_016279,p.N464H|uc011cnv.1,p.N57H	retained_intron, protein_coding	uc011cnv.1	nonsynonymous SNV	exon1	c.A169C	p.N57H	PWHNITVTATEINNPKQSSHIPVFI	PWHNITVTATEIHNPKQSSHIPVFI	1.0	3.0	unscreened	-	4244_5:26890537-26890537 T>G_PWHNITVTATEIHNPKQSSHIPVFI
2:241710438-241710438 C>T	0.0	4244	COLON	-	-	-	-	KIF1A	NM_001244008,p.E431K|uc031rsb.1,p.E422K|uc010fzk.3,p.E431K|ENST00000320389,p.E422K|uc002vzz.2,p.E431K|ENST00000498729,p.E431K|ENST00000404283,p.E431K|NM_004321,p.E422K	retained_intron, protein_coding	uc031rsb.1	nonsynonymous SNV	exon13	c.G1264A	p.E422K	LSSRAASVSSLHERILFAPGSEEAI	LSSRAASVSSLHKRILFAPGSEEAI	2.0	7.0	unscreened	-	4244_2:241710438-241710438 C>T_LSSRAASVSSLHKRILFAPGSEEAI
8:10465516-10465516 C>A	0.0	4244	COLON	-	-	-	-	RP1L1	ENST00000382483,p.G2031V|uc003wtc.3,p.G2031V|NM_178857,p.G2031V	protein_coding, processed_transcript	uc003wtc.3	nonsynonymous SNV	exon4	c.G6092T	p.G2031V	ESDGVEAQPKSEGEEAQEVEGETQK	ESDGVEAQPKSEVEEAQEVEGETQK	2.0	6.0	unscreened	-	4244_8:10465516-10465516 C>A_ESDGVEAQPKSEVEEAQEVEGETQK
5:146785173-146785173 ->T	0.0	4244	COLON	-	-	-	-	DPYSL3	ENST00000398514,p.G271fs|NM_001387,p.G271fs|NM_001197294,p.G385fs|uc003lon.1,p.G271fs|uc003loo.3,p.G385fs|ENST00000343218,p.G385fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003loo.3	frameshift insertion	exon8	c.1152dupA	p.G385fs	SAADLISQARKKGNVVFGEPITASL	SAADLISQARKKRKCSLW	9.0	3.0	unscreened	-	4244_5:146785173-146785173 ->T_SAADLISQARKKRKCSLW
9:43915434-43915434 T>C	0.0	4244	COLON	-	rs78695208	-	-	CNTNAP3B	NM_001201380,p.F1173L	protein_coding, processed_transcript, nonsense_mediated_decay	NM_001201380	nonsynonymous SNV	exon22	c.T3517C	p.F1173L	TSGFTGCLSAVRFGCAAPLKAALRP	TSGFTGCLSAVRLGCAAPLKAALRP	4.0	6.0	unscreened	-	4244_9:43915434-43915434 T>C_TSGFTGCLSAVRLGCAAPLKAALRP
21:31962623-31962623 G>C	0.0	4244	COLON	-	-	-	-	KRTAP22-2	ENST00000382830,p.S24C|NM_001164434,p.S24C|uc021wih.1,p.S24C	protein_coding	uc021wih.1	nonsynonymous SNV	exon1	c.C71G	p.S24C	DYGCSYGSEYGNSGYACNFPCSYGR	DYGCSYGSEYGNCGYACNFPCSYGR	1.0	2.0	unscreened	-	4244_21:31962623-31962623 G>C_DYGCSYGSEYGNCGYACNFPCSYGR
4:66230771-66230771 G>A	0.0	4244	COLON	-	-	-	-	EPHA5	ENST00000511294,p.P735S|uc003hcz.3,p.P712S|NM_001281765,p.P735S|ENST00000354839,p.P712S|uc003hcx.3,p.P666S|NM_004439,p.P734S|uc011cai.2,p.P713S|uc003hda.2,p.P735S|ENST00000432638,p.P571S|uc003hcy.3,p.P734S|NM_182472,p.P712S|NM_001281767,p.P735S|uc011cah.2,p.P735S|ENST00000273854,p.P734S|NM_001281766,p.P713S	protein_coding	uc011cai.2	nonsynonymous SNV	exon11	c.C2137T	p.P713S	LGEASIMGQFDHPNIIHLEGVVTKS	LGEASIMGQFDHSNIIHLEGVVTKS	1.0	1.0	unscreened	-	4244_4:66230771-66230771 G>A_LGEASIMGQFDHSNIIHLEGVVTKS
19:13563693-13563693 G>A	0.0	4244	COLON	-	-	-	-	CACNA1A	NM_001127221,p.T179M|NM_001127222,p.T179M|uc002mwy.3,p.T179M|ENST00000360228,p.T179M|uc010dze.2,p.T179M|ENST00000573710,p.T179M|uc010xnd.2,p.T179M|uc021ups.1,p.T179M|uc021upt.1,p.T179M|uc010xne.2,p.T179M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021upt.1	nonsynonymous SNV	exon3	c.C536T	p.T179M	NGWNVMDFVVVLTGILATVGTEFDL	NGWNVMDFVVVLMGILATVGTEFDL	5.0	7.0	unscreened	-	4244_19:13563693-13563693 G>A_NGWNVMDFVVVLMGILATVGTEFDL
1:212274385-212274385 C>T	1.0	4244	COLON	-	-	-	-	DTL	uc001hiz.4,p.P414S|ENST00000366991,p.P685S|uc010ptb.2,p.P643S|ENST00000542077,p.P643S|uc009xdc.3,p.P685S	protein_coding, processed_transcript	uc010ptb.2	nonsynonymous SNV	exon13	c.C1927T	p.P643S	ENPSPRSPSSQTPNSRRQSGKKLPS	ENPSPRSPSSQTSNSRRQSGKKLPS	7.0	4.0	-	-	4244_1:212274385-212274385 C>T_ENPSPRSPSSQTSNSRRQSGKKLPS
8:54791854-54791854 G>A	0.0	4244	COLON	-	-	ID=COSM1457507;OCCURENCE=1(large_intestine)	-	RGS20	NM_170587,p.A68T|uc003xrp.3,p.A68T|ENST00000297313,p.A68T	protein_coding, processed_transcript, nonsense_mediated_decay	uc003xrp.3	nonsynonymous SNV	exon2	c.G202A	p.A68T	SFPPAQLPDSPAAPKLFGLLSSPLS	SFPPAQLPDSPATPKLFGLLSSPLS	4.0	10.0	unscreened	-	4244_8:54791854-54791854 G>A_SFPPAQLPDSPATPKLFGLLSSPLS
9:15307230-15307230 G>C	0.0	4244	COLON	0.0005	-	-	-	TTC39B	uc011lmr.2,p.P31R|ENST00000512701,p.P31R|NM_152574,p.P31R|uc003zlr.2,p.P31R|uc010mif.2,p.P31R|ENST00000380850,p.P31R|NM_001168340,p.P31R|NM_001168339,p.P31R|NM_001168341,p.P31R|ENST00000297615,p.P31R|uc010mie.2,p.P31R|uc011lmq.2,p.P31R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lmr.2	nonsynonymous SNV	exon1	c.C92G	p.P31R	LRPRPRPGGSAGPSPFALLCAGLSP	LRPRPRPGGSAGRSPFALLCAGLSP	7.0	2.0	unscreened	-	4244_9:15307230-15307230 G>C_LRPRPRPGGSAGRSPFALLCAGLSP
13:25404696-25404696 G>A	0.0	4244	COLON	0.0014	-	-	-	RNF17	uc001upr.3,p.V774M|ENST00000381921,p.V774M|NM_031277,p.V774M|NM_001184993,p.V774M|uc001ups.3,p.V713M|uc010tde.2,p.V774M|ENST00000255324,p.V774M|uc010tdd.1,p.V633M|ENST00000418120,p.V98M	protein_coding, processed_transcript	uc010tde.2	nonsynonymous SNV	exon17	c.G2320A	p.V774M	DFGNTAKITIKDVRKIKDEFLNAPE	DFGNTAKITIKDMRKIKDEFLNAPE	1.0	6.0	unscreened	-	4244_13:25404696-25404696 G>A_DFGNTAKITIKDMRKIKDEFLNAPE
3:93629541-93629541 G>A	0.0	4244	COLON	-	-	-	-	PROS1	ENST00000394236,p.R90C|NM_000313,p.R90C|ENST00000348974,p.R122C|uc003drb.4,p.R90C	retained_intron, protein_coding	uc003drb.4	nonsynonymous SNV	exon4	c.C268T	p.R90C	TDYFYPKYLVCLRSFQTGLFTAARQ	TDYFYPKYLVCLCSFQTGLFTAARQ	8.0	5.0	unscreened	-	4244_3:93629541-93629541 G>A_TDYFYPKYLVCLCSFQTGLFTAARQ
2:11758698-11758698 G>A	0.0	4244	COLON	-	-	-	-	GREB1	NM_014668,p.V1233M|ENST00000381486,p.V1233M|ENST00000234142,p.V1233M|ENST00000396123,p.V231M|uc002rbk.1,p.V1233M|uc002rbp.1,p.V231M	retained_intron, protein_coding	uc002rbp.1	nonsynonymous SNV	exon5	c.G691A	p.V231M	QLSSSSGSSSSSVAPAAGTWVLQAS	QLSSSSGSSSSSMAPAAGTWVLQAS	4.0	9.0	unscreened	-	4244_2:11758698-11758698 G>A_QLSSSSGSSSSSMAPAAGTWVLQAS
12:66583188-66583188 G>A	0.0	4244	COLON	-	-	-	-	IRAK3	uc001stg.2,p.G37S|ENST00000545837,p.G37S	protein_coding	uc001stg.2	nonsynonymous SNV	exon1	c.G109A	p.G37S	LGELCAVLDSCDGALGWRGLVSKNK	LGELCAVLDSCDSALGWRGLVSKNK	6.0	7.0	unscreened	-	4244_12:66583188-66583188 G>A_LGELCAVLDSCDSALGWRGLVSKNK
13:20716272-20716272 C>T	0.0	4244	COLON	-	-	-	-	GJA3	uc021rgz.1,p.A386T|NM_021954,p.A386T|uc001umx.1,p.A386T|ENST00000241125,p.A386T	protein_coding	uc021rgz.1	nonsynonymous SNV	exon1	c.G1156A	p.A386T	LLDGSGSSLEGSALAGTPEEEEQAV	LLDGSGSSLEGSTLAGTPEEEEQAV	3.0	10.0	unscreened	-	4244_13:20716272-20716272 C>T_LLDGSGSSLEGSTLAGTPEEEEQAV
12:66583188-66583188 G>A	0.0	4244	COLON	-	-	-	-	IRAK3	NM_007199,p.G37S|ENST00000261233,p.G37S|uc001sth.3,p.G37S	protein_coding	uc001sth.3	nonsynonymous SNV	exon1	c.G109A	p.G37S	LGELCAVLDSCDGALGWRGLAERLS	LGELCAVLDSCDSALGWRGLAERLS	6.0	7.0	unscreened	-	4244_12:66583188-66583188 G>A_LGELCAVLDSCDSALGWRGLAERLS
1:49119115-49119115 C>T	0.0	4244	COLON	-	-	-	-	AGBL4	uc001crv.1,p.D98N|uc001cru.2,p.D245N|uc010omx.1,p.D257N|ENST00000371839,p.D245N|ENST00000371838,p.D245N|NM_032785,p.D245N	protein_coding, processed_transcript	uc010omx.1	nonsynonymous SNV	exon8	c.G769A	p.D257N	ETPSSFVCQGIIDFLVSQHPIACVL	ETPSSFVCQGIINFLVSQHPIACVL	3.0	6.0	unscreened	-	4244_1:49119115-49119115 C>T_ETPSSFVCQGIINFLVSQHPIACVL
12:133159603-133159603 A>C	1.0	4244	COLON	-	-	-	-	FBRSL1	NM_001142641,p.T793P|uc001ukf.3,p.T793P|ENST00000434748,p.T793P|ENST00000261673,p.T720P	retained_intron, protein_coding, processed_transcript	uc001ukf.3	nonsynonymous SNV	exon17	c.A2377C	p.T793P	EKTRLLSRASPATPAGHPVSGLLLR	EKTRLLSRASPAPPAGHPVSGLLLR	8.0	6.0	-	-	4244_12:133159603-133159603 A>C_EKTRLLSRASPAPPAGHPVSGLLLR
10:14938985-14938985 A>T	0.0	4244	COLON	-	-	-	-	SUV39H2	ENST00000412254,p.K46N|uc021png.1,p.K106N|ENST00000420416,p.K46N|ENST00000354919,p.K106N|ENST00000313519,p.K46N|uc001inj.3,p.K46N|NM_001193424,p.K106N|NM_024670,p.K46N|uc001ini.3,p.K46N|uc001inh.3,p.K46N|NM_001193425,p.K46N	protein_coding, nonsense_mediated_decay	uc021png.1	nonsynonymous SNV	exon3	c.A318T	p.K106N	SNDKHNYLSQVKKGKAITPKDNNKT	SNDKHNYLSQVKNGKAITPKDNNKT	8.0	1.0	unscreened	-	4244_10:14938985-14938985 A>T_SNDKHNYLSQVKNGKAITPKDNNKT
19:38980768-38980768 A>G	0.0	4244	COLON	-	-	-	-	RYR1	ENST00000359596,p.E1956G|uc002oit.3,p.E1956G|ENST00000355481,p.E1956G|ENST00000360985,p.E1956G|NM_001042723,p.E1956G|NM_000540,p.E1956G|uc002oiu.3,p.E1956G	retained_intron, protein_coding, nonsense_mediated_decay	uc002oiu.3	nonsynonymous SNV	exon36	c.A5867G	p.E1956G	EYFCDQELQHRVESLAAFAERYVDK	EYFCDQELQHRVGSLAAFAERYVDK	5.0	3.0	unscreened	-	4244_19:38980768-38980768 A>G_EYFCDQELQHRVGSLAAFAERYVDK
3:102175049-102175049 C>A	0.0	4244	COLON	-	-	-	-	ZPLD1	uc003dvt.1,p.P130T|ENST00000306176,p.P130T|uc011bhg.1,p.P114T|ENST00000491959,p.P114T|ENST00000466937,p.P114T|uc003dvs.1,p.P114T|NM_175056,p.P130T	protein_coding, processed_transcript	uc011bhg.1	nonsynonymous SNV	exon5	c.C340A	p.P114T	EGCGNNLVVSTIPGVSAYGNATSVQ	EGCGNNLVVSTITGVSAYGNATSVQ	1.0	6.0	unscreened	-	4244_3:102175049-102175049 C>A_EGCGNNLVVSTITGVSAYGNATSVQ
11:688025-688025 C>T	1.0	4244	COLON	-	-	ID=COSM2043222;OCCURENCE=1(central_nervous_system)	-	DEAF1	NM_021008,p.G184S|ENST00000382409,p.G184S|uc001lqq.1,p.G184S|uc021qbn.1,p.G184S|ENST00000338675,p.G184S|NM_001293634,p.G184S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qbn.1	nonsynonymous SNV	exon4	c.G550A	p.G184S	PGPQSPPTPLAPGQEKGGTKYNWDP	PGPQSPPTPLAPSQEKGGTKYNWDP	9.0	8.0	-	-	4244_11:688025-688025 C>T_PGPQSPPTPLAPSQEKGGTKYNWDP
6:75797392-75797392 G>A	0.0	4244	COLON	-	-	-	-	COL12A1	uc003pht.3,p.R1864C|ENST00000416123,p.R2952C|ENST00000425443,p.R666C|uc021zbw.1,p.R1864C|uc003phs.3,p.R3028C|ENST00000483888,p.R3024C|ENST00000322507,p.R3028C|uc021zbv.1,p.R3028C|ENST00000345356,p.R1864C|NM_080645,p.R1864C|NM_004370,p.R3028C	retained_intron, protein_coding, processed_transcript	uc021zbw.1	nonsynonymous SNV	exon49	c.C5590T	p.R1864C	STGSRGPPGPPGRPGNSGIRGPPGP	STGSRGPPGPPGCPGNSGIRGPPGP	10.0	10.0	unscreened	-	4244_6:75797392-75797392 G>A_STGSRGPPGPPGCPGNSGIRGPPGP
19:40993703-40993703 G>A	0.0	4244	COLON	-	-	-	-	SPTBN4	ENST00000598249,p.R90Q|uc002ony.3,p.R90Q|ENST00000595535,p.R90Q|uc002onz.3,p.R90Q|ENST00000338932,p.R90Q|ENST00000352632,p.R90Q|uc002onx.3,p.R90Q|NM_020971,p.R90Q|ENST00000344104,p.R90Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002onz.3	nonsynonymous SNV	exon3	c.G269A	p.R90Q	VGCHIGDLYVDLRDGFVLTRLLEVL	VGCHIGDLYVDLQDGFVLTRLLEVL	4.0	8.0	unscreened	-	4244_19:40993703-40993703 G>A_VGCHIGDLYVDLQDGFVLTRLLEVL
19:9085598-9085598 G>T	0.0	4244	COLON	-	-	-	2	MUC16	uc002mkp.3,p.L2073M|NM_024690,p.L2073M|ENST00000397910,p.L2073M	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.C6217A	p.L2073M	TTTWPSTSLSEALSSGHSGVSNPSS	TTTWPSTSLSEAMSSGHSGVSNPSS	5.0	9.0	unscreened	-	4244_19:9085598-9085598 G>T_TTTWPSTSLSEAMSSGHSGVSNPSS
X:111097120-111097120 G>A	0.0	4244	COLON	-	-	-	-	TRPC5	uc004epl.1,p.A372V|NM_012471,p.A372V|ENST00000262839,p.A372V|uc004epm.1,p.A372V	protein_coding	uc004epm.1	nonsynonymous SNV	exon4	c.C1115T	p.A372V	IKKPFIKFICHTASYLTFLFMLLLA	IKKPFIKFICHTVSYLTFLFMLLLA	1.0	2.0	unscreened	-	4244_X:111097120-111097120 G>A_IKKPFIKFICHTVSYLTFLFMLLLA
12:66583188-66583188 G>A	0.0	4244	COLON	-	-	-	-	IRAK3	NM_001142523,p.G37S|ENST00000457197,p.G37S|uc010ssy.2,p.G37S	protein_coding	uc010ssy.2	nonsynonymous SNV	exon1	c.G109A	p.G37S	LGELCAVLDSCDGALGWRGLGAVLS	LGELCAVLDSCDSALGWRGLGAVLS	6.0	7.0	unscreened	-	4244_12:66583188-66583188 G>A_LGELCAVLDSCDSALGWRGLGAVLS
19:17397498-17397501 TGTT>-	0.0	4244	COLON	-	-	-	-	ANKLE1	NM_001278444,p.C644fs|ENST00000598347,p.C590fs|uc010xpn.1,p.C644fs	retained_intron, protein_coding, nonsense_mediated_decay	uc010xpn.1	frameshift deletion	exon8	c.1930_1933del	p.C644fs	CVCVCVCVCVCVCLCVCVCV	CVCVCVCVCVCVCVCVCVC	5.0	10.0	unscreened	-	4244_19:17397498-17397501 TGTT>-_CVCVCVCVCVCVCVCVCVC
8:143614726-143614726 G>A	0.0	4244	COLON	-	-	ID=COSM3432173;OCCURENCE=1(large_intestine)	-	BAI1	ENST00000517894,p.V1157I|uc003ywm.3,p.V1157I|ENST00000323289,p.V1157I|NM_001702,p.V1157I	retained_intron, protein_coding, nonsense_mediated_decay	uc003ywm.3	nonsynonymous SNV	exon24	c.G3469A	p.V1157I	LLALTWMSAVLAVTDRRSALFQILF	LLALTWMSAVLAITDRRSALFQILF	4.0	9.0	unscreened	-	4244_8:143614726-143614726 G>A_LLALTWMSAVLAITDRRSALFQILF
5:63509836-63509836 C>T	0.0	4244	COLON	-	-	-	-	RNF180	ENST00000296615,p.S228L|NM_001113561,p.S228L|uc003jti.3,p.S228L|uc003jth.4,p.S228L|NM_178532,p.S228L|ENST00000389100,p.S228L	protein_coding	uc003jti.3	nonsynonymous SNV	exon4	c.C683T	p.S228L	TGRCATRAFHRKSHSLDLNISEKLT	TGRCATRAFHRKLHSLDLNISEKLT	4.0	2.0	unscreened	-	4244_5:63509836-63509836 C>T_TGRCATRAFHRKLHSLDLNISEKLT
15:29443995-29443995 C>T	0.0	4244	COLON	-	-	-	-	FAM189A1	ENST00000261275,p.C191Y|NM_015307,p.C191Y|uc010azk.1,p.C191Y	retained_intron, protein_coding, processed_transcript	uc010azk.1	nonsynonymous SNV	exon5	c.G572A	p.C191Y	SVCALNVLSTIVCALATAMCCMQMV	SVCALNVLSTIVYALATAMCCMQMV	3.0	2.0	unscreened	-	4244_15:29443995-29443995 C>T_SVCALNVLSTIVYALATAMCCMQMV
3:195507683-195507683 C>T	0.0	4244	COLON	-	-	-	2	MUC4	ENST00000463781,p.A3590T|ENST00000470451,p.A3590T|ENST00000466475,p.A3590T|ENST00000475231,p.A3590T|ENST00000477756,p.A3590T|ENST00000479406,p.A3590T|ENST00000480843,p.A3590T|uc021xjp.1,p.A3590T|ENST00000477086,p.A3590T|ENST00000462323,p.A3590T|NM_018406,p.A3590T|ENST00000478156,p.A3590T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G10768A	p.A3590T	STGDTTPLLVTDASSVSTGHATPLP	STGDTTPLLVTDTSSVSTGHATPLP	8.0	5.0	unscreened	-	4244_3:195507683-195507683 C>T_STGDTTPLLVTDTSSVSTGHATPLP
5:80626709-80626709 G>A	0.0	4244	COLON	-	-	-	-	ACOT12	ENST00000307624,p.P481L|uc003khl.4,p.P481L|NM_130767,p.P481L	retained_intron, protein_coding, processed_transcript	uc003khl.4	nonsynonymous SNV	exon14	c.C1442T	p.P481L	VAVKSVILPSVPPSPQYIRSEIICA	VAVKSVILPSVPLSPQYIRSEIICA	3.0	9.0	unscreened	-	4244_5:80626709-80626709 G>A_VAVKSVILPSVPLSPQYIRSEIICA
16:614771-614771 C>T	0.0	4244	COLON	-	-	-	-	PRR35	uc002chk.3,p.R394W|NM_145270,p.R394W|ENST00000409413,p.R394W	protein_coding	uc002chk.3	nonsynonymous SNV	exon3	c.C1180T	p.R394W	TPGPEGPLPLQPRGPVPGSPEHVGE	TPGPEGPLPLQPWGPVPGSPEHVGE	1.0	8.0	unscreened	-	4244_16:614771-614771 C>T_TPGPEGPLPLQPWGPVPGSPEHVGE
7:141955124-141955124 G>A	0.0	4244	COLON	0.0018	-	ID=COSM1448756;OCCURENCE=1(large_intestine)	-	PRSS58	ENST00000552471,p.R63W|uc003vxb.3,p.R63W|uc003vxc.4,p.R63W|NM_001001317,p.R63W|ENST00000547058,p.R63W	protein_coding	uc003vxc.4	nonsynonymous SNV	exon4	c.C187T	p.R63W	VITAAHCNLPKLRVILGVTIPADSN	VITAAHCNLPKLWVILGVTIPADSN	1.0	6.0	unscreened	-	4244_7:141955124-141955124 G>A_VITAAHCNLPKLWVILGVTIPADSN
2:50847200-50847200 C>T	0.0	4244	COLON	-	-	-	-	NRXN1	uc021vhh.1,p.G427E|uc002rxb.4,p.G99E|ENST00000405472,p.G419E|ENST00000406859,p.G427E|ENST00000401669,p.G427E|ENST00000406316,p.G427E|uc021vhg.1,p.G467E|ENST00000402717,p.G419E|NM_004801,p.G427E|ENST00000404971,p.G467E|NM_001135659,p.G467E	retained_intron, protein_coding, processed_transcript	uc021vhh.1	nonsynonymous SNV	exon7	c.G1280A	p.G427E	YVGGSPSTADLPGSPVSNNFMGCLK	YVGGSPSTADLPESPVSNNFMGCLK	1.0	3.0	unscreened	-	4244_2:50847200-50847200 C>T_YVGGSPSTADLPESPVSNNFMGCLK
8:143614726-143614726 G>A	0.0	4244	COLON	-	-	ID=COSM3432173;OCCURENCE=1(large_intestine)	-	BAI1	ENST00000521208,p.R1128H	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000521208	nonsynonymous SNV	exon24	c.G3383A	p.R1128H	AAGADLDVGCARRHRPPLRPLPDPL	AAGADLDVGCARHHRPPLRPLPDPL	4.0	9.0	unscreened	-	4244_8:143614726-143614726 G>A_AAGADLDVGCARHHRPPLRPLPDPL
13:103383701-103383701 C>T	0.0	4244	COLON	-	-	-	-	CCDC168	ENST00000322527,p.G1820E|NM_001146197,p.G6449E|uc001vpm.3,p.G6449E	protein_coding	uc001vpm.3	nonsynonymous SNV	exon4	c.G19346A	p.G6449E	RKSLQMFNFYPKGTISKDNSWRFYS	RKSLQMFNFYPKETISKDNSWRFYS	1.0	1.0	unscreened	-	4244_13:103383701-103383701 C>T_RKSLQMFNFYPKETISKDNSWRFYS
7:21757497-21757497 C>A	0.0	4244	COLON	-	-	-	-	DNAH11	uc031swq.1,p.T560K|ENST00000409508,p.T2363K|NM_001277115,p.T2363K|ENST00000328843,p.T2370K|uc031swp.1,p.T2363K	retained_intron, protein_coding, processed_transcript	uc031swq.1	nonsynonymous SNV	exon43	c.C1679A	p.T560K	DKYVPACLDKLRTSFKTITSIPESS	DKYVPACLDKLRKSFKTITSIPESS	4.0	6.0	unscreened	-	4244_7:21757497-21757497 C>A_DKYVPACLDKLRKSFKTITSIPESS
12:117703242-117703242 C>T	0.0	4244	COLON	-	-	ID=COSM2157588;OCCURENCE=2(central_nervous_system)	-	NOS1	ENST00000338101,p.R672H|NM_001204214,p.R336H|uc021reo.1,p.R336H|uc001twn.2,p.R672H|NM_000620,p.R672H|NM_001204213,p.R336H|uc021ren.1,p.R336H|uc001twm.2,p.R672H|ENST00000317775,p.R672H|NM_001204218,p.R672H	protein_coding, processed_transcript	uc021reo.1	nonsynonymous SNV	exon11	c.G1007A	p.R336H	TESFIKHMENEYRCRGGCPADWVWI	TESFIKHMENEYHCRGGCPADWVWI	2.0	8.0	unscreened	-	4244_12:117703242-117703242 C>T_TESFIKHMENEYHCRGGCPADWVWI
6:28539984-28539984 A>C	1.0	4244	COLON	-	-	-	-	ZBED9	NM_052923,p.L1228V|uc003nlo.3,p.L1228V|ENST00000452236,p.L1228V	protein_coding, processed_transcript	uc003nlo.3	nonsynonymous SNV	exon4	c.T3682G	p.L1228V	NLNLTVTLQDKLLKLATDEGLKISF	NLNLTVTLQDKLVKLATDEGLKISF	4.0	3.0	-	-	4244_6:28539984-28539984 A>C_NLNLTVTLQDKLVKLATDEGLKISF
22:20458324-20458324 C>T	0.0	4244	COLON	-	-	-	-	RIMBP3	ENST00000426804,p.R993H|uc002zsd.4,p.R993H|NM_015672,p.R993H	protein_coding	uc002zsd.4	nonsynonymous SNV	exon1	c.G2978A	p.R993H	LSRPLLGTKGVLRMAPMQLHLQNVT	LSRPLLGTKGVLHMAPMQLHLQNVT	4.0	4.0	unscreened	-	4244_22:20458324-20458324 C>T_LSRPLLGTKGVLHMAPMQLHLQNVT
10:55996637-55996637 G>A	0.0	4244	COLON	-	-	ID=COSM313923,COSM313924,COSM313922;OCCURENCE=1(lung)	-	PCDH15	ENST00000373957,p.R289W|ENST00000395430,p.R311W|uc021pqz.1,p.R289W|NM_033056,p.R311W|uc010qht.2,p.R311W|NM_001142765,p.R311W|ENST00000395446,p.R311W|NM_001142767,p.R274W|uc001jjw.3,p.R311W|NM_001142764,p.R311W|uc010qhx.1,p.R311W|uc021pqw.1,p.R316W|ENST00000395442,p.R311W|NM_001142768,p.R289W|uc021pqy.1,p.R311W|ENST00000320301,p.R311W|uc010qhz.1,p.R311W|uc010qib.1,p.R289W|ENST00000361849,p.R311W|ENST00000448885,p.R311W|uc010qhv.1,p.R311W|ENST00000395438,p.R311W|uc010qhr.2,p.R311W|NM_001142763,p.R316W|ENST00000437009,p.R311W|uc021pqx.1,p.R311W|ENST00000395440,p.R311W|uc010qhy.1,p.R316W|ENST00000373955,p.R311W|uc010qia.1,p.R289W|uc001jjv.1,p.R289W|ENST00000373965,p.R311W|uc021pqv.1,p.R311W|uc010qhw.1,p.R274W|uc001jju.1,p.R311W|NM_001142766,p.R311W|NM_001142773,p.R289W|ENST00000395432,p.R274W|ENST00000395433,p.R289W|ENST00000414778,p.R316W|uc010qhq.2,p.R316W|ENST00000395445,p.R311W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqz.1	nonsynonymous SNV	exon7	c.C865T	p.R289W	IVTPPIQAIDQDRNIQPPSDRPGIL	IVTPPIQAIDQDWNIQPPSDRPGIL	3.0	8.0	unscreened	-	4244_10:55996637-55996637 G>A_IVTPPIQAIDQDWNIQPPSDRPGIL
2:1481351-1481351 G>A	0.0	4244	COLON	-	-	-	-	TPO	NM_000547,p.R438H|ENST00000345913,p.R438H|ENST00000382201,p.R438H|uc002qww.3,p.R438H|ENST00000422464,p.R367H|uc002qwr.3,p.R438H|ENST00000329066,p.R438H|NM_175721,p.R438H|ENST00000337415,p.R438H|NM_001206744,p.R438H|uc002qwx.3,p.R438H|NM_001206745,p.R438H|uc010yip.2,p.R438H|ENST00000346956,p.R438H|uc002qwu.3,p.R438H|NM_175719,p.R438H	protein_coding, processed_transcript	uc010yip.2	nonsynonymous SNV	exon7	c.G1313A	p.R438H	AHWSADAVYQEARKVVGALHQIITL	AHWSADAVYQEAHKVVGALHQIITL	5.0	3.0	unscreened	-	4244_2:1481351-1481351 G>A_AHWSADAVYQEAHKVVGALHQIITL
5:56219290-56219290 C>G	0.0	4244	COLON	-	-	-	-	MIER3	uc003jqz.1,p.E377Q|ENST00000381199,p.E440Q|uc003jra.1,p.E439Q|NM_152622,p.E439Q|uc003jrc.1,p.E445Q|uc003jrd.1,p.E440Q|ENST00000381213,p.E439Q|ENST00000409421,p.E377Q|uc003jrb.1,p.E264Q|NM_001297599,p.E440Q|NM_001297598,p.E445Q|ENST00000381226,p.E445Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jrd.1	nonsynonymous SNV	exon13	c.G1318C	p.E440Q	RGQVNHVPVVTEELLTLPSNGESDC	RGQVNHVPVVTEQLLTLPSNGESDC	5.0	1.0	unscreened	-	4244_5:56219290-56219290 C>G_RGQVNHVPVVTEQLLTLPSNGESDC
19:56545030-56545030 C>T	0.0	4244	COLON	-	-	-	-	NLRP5	NM_153447,p.A857V|uc002qmj.3,p.A857V|ENST00000390649,p.A857V|uc002qmi.3,p.A838V	protein_coding, nonsense_mediated_decay	uc002qmj.3	nonsynonymous SNV	exon9	c.C2570T	p.A857V	GGTHLKEEDVRMACEALKHPKCLLE	GGTHLKEEDVRMVCEALKHPKCLLE	1.0	5.0	unscreened	-	4244_19:56545030-56545030 C>T_GGTHLKEEDVRMVCEALKHPKCLLE
8:52322049-52322049 C>T	0.0	4244	COLON	-	-	ID=COSM1222810;OCCURENCE=1(large_intestine)	-	PXDNL	ENST00000543296,p.R712H|uc003xqu.4,p.R712H|ENST00000356297,p.R712H|NM_144651,p.R712H	retained_intron, protein_coding, nonsense_mediated_decay	uc003xqu.4	nonsynonymous SNV	exon17	c.G2135A	p.R712H	LSLIANLSGCTARRPLPNCSNRCFH	LSLIANLSGCTAHRPLPNCSNRCFH	5.0	8.0	unscreened	-	4244_8:52322049-52322049 C>T_LSLIANLSGCTAHRPLPNCSNRCFH
2:100722475-100722475 G>A	0.0	4244	COLON	-	-	-	1	AFF3	uc010yvr.1,p.R4W|ENST00000415384,p.R4W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yvr.1	nonsynonymous SNV	exon1	c.C10T	p.R4W	MTLRLDAGGIPSLAPR	MTLWLDAGGIPSLAPR	4.0	8.0	unscreened	-	4244_2:100722475-100722475 G>A_MTLWLDAGGIPSLAPR
10:101122085-101122087 AAG>-	0.0	4244	COLON	-	-	-	-	CNNM1	NM_020348,p.654_654del|uc001kpp.4,p.654_654del|ENST00000370528,p.583_583del|uc009xwf.3,p.654_654del|ENST00000356713,p.654_654del|uc009xwe.3,p.654_654del|uc031pwy.1,p.54_54del|uc010qpi.2,p.654_654del|ENST00000370534,p.289_289del|uc009xwg.3,p.54_54del|ENST00000446890,p.583_583del	protein_coding, processed_transcript	uc031pwy.1	nonframeshift deletion	exon3	c.160_162del	p.54_54del	NVIQELKFDEKNKKAPEHYLYQRNRP	NVIQELKFDEKNKAPEHYLYQRNRP	2.0	8.0	unscreened	-	4244_10:101122085-101122087 AAG>-_NVIQELKFDEKNKAPEHYLYQRNRP
11:16117663-16117663 T>A	0.0	4244	COLON	-	-	-	-	SOX6	ENST00000528429,p.K327M|ENST00000316399,p.K327M|NM_001145819,p.K340M|ENST00000396356,p.K327M|uc001mme.3,p.K340M|ENST00000352083,p.K327M|NM_033326,p.K327M|uc001mmg.3,p.K327M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001mmg.3	nonsynonymous SNV	exon9	c.A980T	p.K327M	AAASGLSPLQLQKGHVSHPQINQRL	AAASGLSPLQLQMGHVSHPQINQRL	4.0	1.0	unscreened	-	4244_11:16117663-16117663 T>A_AAASGLSPLQLQMGHVSHPQINQRL
20:62737236-62737236 C>T	0.0	4244	COLON	-	-	-	-	NPBWR2	uc011abt.2,p.A317T|NM_005286,p.A317T|ENST00000369768,p.A317T	protein_coding	uc011abt.2	nonsynonymous SNV	exon1	c.G949A	p.A317T	SYANSCLNPFLYAFLDDNFRKNFRS	SYANSCLNPFLYTFLDDNFRKNFRS	1.0	1.0	unscreened	-	4244_20:62737236-62737236 C>T_SYANSCLNPFLYTFLDDNFRKNFRS
18:31323377-31323377 A>C	0.0	4244	COLON	-	-	-	-	ASXL3	NM_030632,p.S1189R|ENST00000269197,p.S1189R|uc010dmg.1,p.S1189R|uc002kxq.2,p.S896R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dmg.1	nonsynonymous SNV	exon12	c.A3565C	p.S1189R	ETTTVLQQSLNPSKLPETATDLSVH	ETTTVLQQSLNPRKLPETATDLSVH	2.0	6.0	unscreened	-	4244_18:31323377-31323377 A>C_ETTTVLQQSLNPRKLPETATDLSVH
7:82580159-82580159 C>G	0.0	4244	COLON	-	-	-	-	PCLO	NM_033026,p.E3249Q|uc003uhx.2,p.E3249Q|ENST00000333891,p.E3249Q|ENST00000423517,p.E3249Q|uc003uhv.2,p.E3249Q|uc010lec.3,p.E214Q|NM_014510,p.E3249Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lec.3	nonsynonymous SNV	exon1	c.G640C	p.E214Q	WERQEIQRFREQEKIMVQKKLEELQ	WERQEIQRFREQQKIMVQKKLEELQ	4.0	3.0	unscreened	-	4244_7:82580159-82580159 C>G_WERQEIQRFREQQKIMVQKKLEELQ
2:179623711-179623711 C>T	0.0	4244	COLON	-	-	-	-	TTN	ENST00000591111,p.A3435T|ENST00000460472,p.A3389T|NM_133378,p.A3435T|NM_001256850,p.A3435T|ENST00000342992,p.A3435T|uc021vtb.2,p.A3389T|ENST00000360870,p.A3435T|uc002umz.1,p.A96T|NM_133379,p.A3435T|uc002unb.3,p.A3435T|NM_003319,p.A3389T|uc031rqd.1,p.A3435T|uc021vsy.2,p.A3435T	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon44	c.G10303A	p.A3435T	GQVSSTANLSLEAPESILHERIEQE	GQVSSTANLSLETPESILHERIEQE	5.0	5.0	unscreened	-	4244_2:179623711-179623711 C>T_GQVSSTANLSLETPESILHERIEQE
12:7982406-7982406 T>C	0.0	4244	COLON	-	-	-	-	SLC2A14	uc010sgh.2,p.T195A|NM_001286233,p.T180A|ENST00000546234,p.T157A|NM_001286237,p.T195A|ENST00000542546,p.T71A|ENST00000535295,p.T71A|ENST00000431042,p.T157A|ENST00000340749,p.T157A|NM_001286235,p.T157A|ENST00000543909,p.T180A|uc001qtm.3,p.T157A|uc001qtk.3,p.T180A|NM_001286234,p.T157A|ENST00000396589,p.T180A|uc001qtn.3,p.T180A|uc010sgg.2,p.T71A|uc001qtl.3,p.T157A|NM_153449,p.T180A|NM_001286236,p.T71A|ENST00000539924,p.T195A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sgh.2	nonsynonymous SNV	exon4	c.A583G	p.T195A	EISPTALRGAFGTLNQLGIVIGILV	EISPTALRGAFGALNQLGIVIGILV	5.0	4.0	unscreened	-	4244_12:7982406-7982406 T>C_EISPTALRGAFGALNQLGIVIGILV
10:7213960-7213960 C>T	0.0	4244	COLON	-	-	-	-	SFMBT2	NM_001018039,p.R771H|ENST00000361972,p.R771H|NM_001029880,p.R771H|ENST00000397167,p.R771H|uc009xio.2,p.R771H|uc001ijn.2,p.R771H|uc010qay.2,p.R606H	protein_coding	uc010qay.2	nonsynonymous SNV	exon14	c.G1817A	p.R606H	RAVTLRSGSEPVRRPPPERTRRGRG	RAVTLRSGSEPVHRPPPERTRRGRG	5.0	9.0	unscreened	-	4244_10:7213960-7213960 C>T_RAVTLRSGSEPVHRPPPERTRRGRG
2:163374254-163374254 C>T	0.0	4244	COLON	-	-	-	-	KCNH7	uc002uci.3,p.R293Q|NM_173162,p.R293Q|ENST00000328032,p.R293Q	protein_coding, processed_transcript	uc002uci.3	nonsynonymous SNV	exon4	c.G878A	p.R293Q	GFGVHPKNIFRDRHASEGPFNHIKS	GFGVHPKNIFRDQHASEGPFNHIKS	1.0	8.0	unscreened	-	4244_2:163374254-163374254 C>T_GFGVHPKNIFRDQHASEGPFNHIKS
6:51524237-51524237 A>C	0.0	4244	COLON	-	-	-	-	PKHD1	uc003pah.1,p.L3563V|ENST00000371117,p.L3563V|NM_138694,p.L3563V	protein_coding	uc003pah.1	nonsynonymous SNV	exon61	c.T10687G	p.L3563V	EPIEIRSGVSIHLALTVMVSVLEKG	EPIEIRSGVSIHVALTVMVSVLEKG	1.0	2.0	unscreened	-	4244_6:51524237-51524237 A>C_EPIEIRSGVSIHVALTVMVSVLEKG
3:195507686-195507686 C>T	0.0	4244	COLON	-	-	-	2	MUC4	ENST00000478156,p.D3589N|ENST00000463781,p.D3589N|ENST00000475231,p.D3589N|ENST00000477756,p.D3589N|ENST00000480843,p.D3589N|ENST00000466475,p.D3589N|ENST00000470451,p.D3589N|NM_018406,p.D3589N|ENST00000477086,p.D3589N|ENST00000479406,p.D3589N|uc021xjp.1,p.D3589N|ENST00000462323,p.D3589N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G10765A	p.D3589N	VSTGDTTPLLVTDASSVSTGHATPL	VSTGDTTPLLVTNASSVSTGHATPL	8.0	3.0	unscreened	-	4244_3:195507686-195507686 C>T_VSTGDTTPLLVTNASSVSTGHATPL
5:146889127-146889127 C>T	0.0	4244	COLON	-	-	-	-	DPYSL3	ENST00000343218,p.A99T|NM_001197294,p.A99T|uc003loo.3,p.A99T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003loo.3	nonsynonymous SNV	exon1	c.G295A	p.A99T	RRGQGREESREPAPASPAPAGVEIR	RRGQGREESREPTPASPAPAGVEIR	9.0	6.0	unscreened	-	4244_5:146889127-146889127 C>T_RRGQGREESREPTPASPAPAGVEIR
1:38511722-38511722 G>T	0.0	4244	COLON	-	-	-	-	POU3F1	uc001ccp.1,p.P232T|NM_002699,p.P232T|ENST00000373012,p.P232T	protein_coding	uc001ccp.1	nonsynonymous SNV	exon1	c.C694A	p.P232T	AGGLHAAAAHLHPGAGGGGSSVGEH	AGGLHAAAAHLHTGAGGGGSSVGEH	3.0	8.0	unscreened	-	4244_1:38511722-38511722 G>T_AGGLHAAAAHLHTGAGGGGSSVGEH
2:61275891-61275891 A>G	1.0	4244	COLON	-	-	-	-	PEX13	uc002sau.4,p.K400E|ENST00000295030,p.K400E|NM_002618,p.K400E	protein_coding, processed_transcript	uc002sau.4	nonsynonymous SNV	exon4	c.A1198G	p.K400E	PVAPDSIGKDGEKQDL	PVAPDSIGKDGEEQDL	8.0	8.0	-	-	4244_2:61275891-61275891 A>G_PVAPDSIGKDGEEQDL
12:48723711-48723711 G>T	0.0	4244	COLON	-	-	-	-	H1FNT	NM_181788,p.A213S|ENST00000335017,p.A213S|uc001rrm.3,p.A213S	protein_coding	uc001rrm.3	nonsynonymous SNV	exon1	c.G637T	p.A213S	CARAKEEAGATAADEGRGQAVKEDT	CARAKEEAGATASDEGRGQAVKEDT	1.0	8.0	unscreened	-	4244_12:48723711-48723711 G>T_CARAKEEAGATASDEGRGQAVKEDT
19:38377392-38377409 CCTCCTCCTCCTCCCTTA>-	0.0	4244	COLON	-	-	ID=COSM439379;OCCURENCE=2(breast)	-	WDR87	ENST00000303868,p.2262_2268del|uc002ohj.2,p.2301_2307del|NM_001291088,p.2301_2307del|NM_031951,p.2262_2268del|uc010efu.2,p.2262_2268del|ENST00000447313,p.2301_2307del	retained_intron, protein_coding	uc010efu.2	nonframeshift deletion	exon6	c.6785_6802del	p.2262_2268del	EREEEEEREEEEVREEEEERKEEEEG	EREEEEEREEEEERKEEEEGEEKQV	1.0	7.0	unscreened	-	4244_19:38377392-38377409 CCTCCTCCTCCTCCCTTA>-_EREEEEEREEEEERKEEEEGEEKQV
15:65370471-65370471 C>T	0.0	4244	COLON	-	-	-	-	KBTBD13	NM_001101362,p.L440F|ENST00000432196,p.L440F|uc010uis.2,p.L440F	protein_coding	uc010uis.2	nonsynonymous SNV	exon1	c.C1318T	p.L440F	AGFPRPGSLQTFLLRLPPGAPGPVT	AGFPRPGSLQTFFLRLPPGAPGPVT	1.0	4.0	unscreened	-	4244_15:65370471-65370471 C>T_AGFPRPGSLQTFFLRLPPGAPGPVT
19:52824941-52824941 G>T	0.0	4244	COLON	-	-	ID=COSM1289143,COSM1289142;OCCURENCE=1(autonomic_ganglia)	-	ZNF480	ENST00000490272,p.G61V	protein_coding, nonsense_mediated_decay	ENST00000490272	nonsynonymous SNV	exon3	c.G182T	p.G61V	YICLNWSYFQMKG	YICLNWSYFQMKV	7.0	6.0	unscreened	-	4244_19:52824941-52824941 G>T_YICLNWSYFQMKV
1:13448391-13448391 G>A	0.0	4244	COLON	-	-	-	-	LOC400736,PRAMEF14	NM_001291380,p.H362Y|uc010obi.1,p.H362Y|NM_001024661,p.H362Y|ENST00000376132,p.H362Y	protein_coding	uc010obi.1	nonsynonymous SNV	exon4	c.C1084T	p.H362Y	SLETLILEGCQIHYSQLSAILPGLS	SLETLILEGCQIYYSQLSAILPGLS	1.0	6.0	unscreened	-	4244_1:13448391-13448391 G>A_SLETLILEGCQIYYSQLSAILPGLS
2:163374254-163374254 C>T	0.0	4244	COLON	-	-	-	-	KCNH7	uc002uch.2,p.R293Q|ENST00000332142,p.R293Q|NM_033272,p.R293Q	protein_coding, processed_transcript	uc002uch.2	nonsynonymous SNV	exon4	c.G878A	p.R293Q	GFGVHPKNIFRDRHASEDNGRNVKG	GFGVHPKNIFRDQHASEDNGRNVKG	1.0	8.0	unscreened	-	4244_2:163374254-163374254 C>T_GFGVHPKNIFRDQHASEDNGRNVKG
2:131369182-131369182 A>C	0.0	4244	COLON	-	-	-	-	POTEJ	NM_001277083,p.K26T|ENST00000409602,p.K26T|uc021vor.2,p.K26T	protein_coding	uc021vor.2	nonsynonymous SNV	exon1	c.A77C	p.K26T	VKKPFVLRSKMGKWCRHCFPCCRGS	VKKPFVLRSKMGTWCRHCFPCCRGS	5.0	3.0	unscreened	-	4244_2:131369182-131369182 A>C_VKKPFVLRSKMGTWCRHCFPCCRGS
16:7568333-7568333 C>T	0.0	4244	COLON	-	-	-	-	RBFOX1	ENST00000552089,p.T107M|ENST00000535565,p.T107M|ENST00000340209,p.T76M|NM_001142334,p.T71M|ENST00000355637,p.T91M|ENST00000553186,p.T71M|ENST00000570626,p.T73M|uc002cyt.2,p.T71M|uc002cyv.1,p.T71M|NM_145891,p.T91M|uc010uya.1,p.T107M|NM_145892,p.T91M|uc002cyx.2,p.T91M|uc010buf.1,p.T71M|ENST00000436368,p.T91M|uc010uyb.1,p.T71M|ENST00000547338,p.T71M|NM_018723,p.T71M|ENST00000547605,p.T71M|uc010uxz.1,p.T114M|ENST00000547372,p.T114M|uc010uyc.1,p.T91M|NM_145893,p.T91M|ENST00000311745,p.T91M|uc002cyy.2,p.T91M|uc002cys.2,p.T71M|uc002cyw.2,p.T91M|uc002cyr.1,p.T71M|NM_001142333,p.T71M|ENST00000551752,p.T71M|ENST00000550418,p.T71M|ENST00000422070,p.T114M	retained_intron, protein_coding, processed_transcript	uc010uyc.1	nonsynonymous SNV	exon2	c.C272T	p.T91M	PEHTLNLYPPAQTHSEQSPADTSAQ	PEHTLNLYPPAQMHSEQSPADTSAQ	3.0	7.0	unscreened	-	4244_16:7568333-7568333 C>T_PEHTLNLYPPAQMHSEQSPADTSAQ
3:109027051-109027051 A>C	0.0	4244	COLON	-	-	-	-	DPPA2	uc003dxo.3,p.S162R|NM_138815,p.S162R|ENST00000478945,p.S162R	protein_coding	uc003dxo.3	nonsynonymous SNV	exon6	c.T486G	p.S162R	RKAVTKRARLQRSYEMNERAEETNT	RKAVTKRARLQRRYEMNERAEETNT	1.0	1.0	unscreened	-	4244_3:109027051-109027051 A>C_RKAVTKRARLQRRYEMNERAEETNT
13:70456449-70456449 A>T	0.0	4244	COLON	-	-	-	-	KLHL1	uc001vip.3,p.L398H|NM_001286725,p.L337H|uc010thm.2,p.L337H|NM_020866,p.L398H|ENST00000377844,p.L398H|ENST00000545028,p.L205H	protein_coding	uc010thm.2	nonsynonymous SNV	exon4	c.T1010A	p.L337H	DMQSRCNDLSMLLAFIRLPLLPPQI	DMQSRCNDLSMLHAFIRLPLLPPQI	1.0	2.0	unscreened	-	4244_13:70456449-70456449 A>T_DMQSRCNDLSMLHAFIRLPLLPPQI
1:153941156-153941156 C>G	0.0	4244	COLON	-	-	-	-	CREB3L4	ENST00000368607,p.S52C|NM_130898,p.S52C|ENST00000368601,p.S52C|ENST00000271889,p.S52C|NM_001255978,p.S52C|ENST00000368603,p.S52C|uc001fdn.4,p.S52C|uc010peg.2,p.S52C|uc001fdm.2,p.S52C|ENST00000431292,p.S52C|uc001fdr.3,p.S52C|NM_001255979,p.S52C	protein_coding, processed_transcript	uc010peg.2	nonsynonymous SNV	exon2	c.C155G	p.S52C	TRLQEQGLQGWKSGGDRGCGLQESE	TRLQEQGLQGWKCGGDRGCGLQESE	8.0	4.0	unscreened	-	4244_1:153941156-153941156 C>G_TRLQEQGLQGWKCGGDRGCGLQESE
5:140537281-140537281 A>C	0.0	4244	COLON	-	-	-	-	PCDHB17	uc003lis.3,p.T568P|ENST00000539533,p.T569P	protein_coding	uc003lis.3	nonsynonymous SNV	exon1	c.A1702C	p.T568P	TTTRPSCCTRCRTAPRPAPSWCPGR	TTTRPSCCTRCRPAPRPAPSWCPGR	2.0	7.0	unscreened	-	4244_5:140537281-140537281 A>C_TTTRPSCCTRCRPAPRPAPSWCPGR
2:234835289-234835289 A>-	0.0	4244	COLON	-	-	-	-	TRPM8	NM_024080,p.Y36fs|ENST00000444298,p.Y36fs|uc002vvh.3,p.Y36fs|ENST00000324695,p.Y36fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002vvh.3	frameshift deletion	exon2	c.107delA	p.Y36fs	LYSSASRSTDLSYSESDLVNFIQANF	LYSSASRSTDLSSVKATW	3.0	5.0	unscreened	-	4244_2:234835289-234835289 A>-_LYSSASRSTDLSSVKATW
1:67306327-67306327 A>C	1.0	4244	COLON	-	-	-	-	WDR78	ENST00000464352,p.V206G|ENST00000371026,p.V440G|ENST00000371023,p.V440G|NM_207014,p.V440G|uc001dcy.3,p.V440G|NM_024763,p.V440G|uc001dcx.3,p.V440G|uc009waw.3,p.V186G|ENST00000431318,p.V186G	protein_coding, processed_transcript, nonsense_mediated_decay	uc009waw.3	nonsynonymous SNV	exon5	c.T557G	p.V186G	VLKEPEPEEPEDVLESAKHEEVEEE	VLKEPEPEEPEDGLESAKHEEVEEE	6.0	5.0	-	-	4244_1:67306327-67306327 A>C_VLKEPEPEEPEDGLESAKHEEVEEE
1:153941156-153941156 C>G	0.0	4244	COLON	-	-	-	-	CREB3L4	uc031ppj.1,p.S52C	protein_coding, processed_transcript	uc031ppj.1	nonsynonymous SNV	exon2	c.C155G	p.S52C	TRLQEQGLQGWKSGGDRGCVSVTSG	TRLQEQGLQGWKCGGDRGCVSVTSG	8.0	4.0	unscreened	-	4244_1:153941156-153941156 C>G_TRLQEQGLQGWKCGGDRGCVSVTSG
6:72892034-72892034 A>C	0.0	4244	COLON	-	-	-	-	RIMS1	NM_014989,p.K287T|ENST00000521978,p.K287T|ENST00000264839,p.K287T|ENST00000348717,p.K287T|ENST00000517960,p.K287T|ENST00000520567,p.K287T|ENST00000491071,p.K287T|ENST00000522291,p.K287T|uc003pga.4,p.K287T|ENST00000518273,p.K287T	retained_intron, protein_coding, processed_transcript	uc003pga.4	nonsynonymous SNV	exon6	c.A860C	p.K287T	PGLSEQNGKGALKSERKRVPKTSAQ	PGLSEQNGKGALTSERKRVPKTSAQ	3.0	2.0	unscreened	-	4244_6:72892034-72892034 A>C_PGLSEQNGKGALTSERKRVPKTSAQ
22:46930262-46930262 C>T	0.0	4244	COLON	-	-	-	-	CELSR1	uc003bhw.1,p.D936N|NM_014246,p.D936N|ENST00000395964,p.D936N|ENST00000262738,p.D936N	retained_intron, protein_coding, processed_transcript	uc003bhw.1	nonsynonymous SNV	exon1	c.G2806A	p.D936N	NGRLLYTFQGGDDGDGDFYIEPTSG	NGRLLYTFQGGDNGDGDFYIEPTSG	8.0	5.0	unscreened	-	4244_22:46930262-46930262 C>T_NGRLLYTFQGGDNGDGDFYIEPTSG
X:9000197-9000197 T>G	0.0	4244	COLON	-	-	-	-	FAM9B	NM_205849,p.N52T|ENST00000327220,p.N52T|ENST00000428477,p.N52T|uc011mhu.2,p.N52T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011mhu.2	nonsynonymous SNV	exon3	c.A155C	p.N52T	EPFAETDEHTGANTKKPEDTAEDLT	EPFAETDEHTGATTKKPEDTAEDLT	1.0	6.0	unscreened	-	4244_X:9000197-9000197 T>G_EPFAETDEHTGATTKKPEDTAEDLT
X:9000197-9000197 T>G	0.0	4244	COLON	-	-	-	-	FAM9B	uc004csh.3,p.N97T|ENST00000362066,p.N97T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004csh.3	nonsynonymous SNV	exon3	c.A290C	p.N97T	EPFAETDEHTGANTKKPEDTAVGAN	EPFAETDEHTGATTKKPEDTAVGAN	1.0	6.0	unscreened	-	4244_X:9000197-9000197 T>G_EPFAETDEHTGATTKKPEDTAVGAN
7:143929590-143929590 A>G	0.0	4244	COLON	-	-	-	-	OR2A1,OR2A42	NM_001005287,p.L116P|uc011kub.2,p.L116P|ENST00000391496,p.L116P|NM_001001802,p.L116P	protein_coding	uc011kub.2	nonsynonymous SNV	exon1	c.T347C	p.L116P	LSFGHSECLLLVLMSYDRYVAICHP	LSFGHSECLLLVPMSYDRYVAICHP	1.0	5.0	unscreened	-	4244_7:143929590-143929590 A>G_LSFGHSECLLLVPMSYDRYVAICHP
1:228194848-228194848 T>G	0.0	4244	COLON	-	-	-	-	WNT3A	NM_033131,p.F7V|uc001hrp.2,p.F7V|uc001hrq.2,p.F7V|ENST00000366753,p.F7V|ENST00000284523,p.F7V	protein_coding	uc001hrq.2	nonsynonymous SNV	exon1	c.T19G	p.F7V	MAPLGYFLLLCSLKQALGS	MAPLGYVLLLCSLKQALGS	2.0	2.0	unscreened	-	4244_1:228194848-228194848 T>G_MAPLGYVLLLCSLKQALGS
1:67306327-67306327 A>C	1.0	4244	COLON	-	-	-	-	WDR78	ENST00000531552,p.V62G	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000531552	nonsynonymous SNV	exon2	c.T185G	p.V62G	TEKKPEPEEPEDVLESAKHEEVEEE	TEKKPEPEEPEDGLESAKHEEVEEE	6.0	5.0	-	-	4244_1:67306327-67306327 A>C_TEKKPEPEEPEDGLESAKHEEVEEE
18:44219581-44219581 C>G	0.0	4244	COLON	-	-	-	-	LOXHD1	ENST00000536736,p.R170T|NM_144612,p.R170T|ENST00000441551,p.R170T|uc010xcw.1,p.R170T	retained_intron, protein_coding, nonsense_mediated_decay	uc010xcw.1	nonsynonymous SNV	exon4	c.G509C	p.R170T	DLLASFNPMDMPRGNKYEVKVYTGD	DLLASFNPMDMPTGNKYEVKVYTGD	4.0	3.0	unscreened	-	4244_18:44219581-44219581 C>G_DLLASFNPMDMPTGNKYEVKVYTGD
19:9362171-9362171 G>C	0.0	4244	COLON	-	-	-	-	OR7E24	ENST00000456448,p.R151P|uc002mlb.1,p.R151P|NM_001079935,p.R151P	protein_coding	uc002mlb.1	nonsynonymous SNV	exon1	c.G452C	p.R151P	DRFVAICHPLHYRIIMNPRLCGFLI	DRFVAICHPLHYPIIMNPRLCGFLI	1.0	2.0	unscreened	-	4244_19:9362171-9362171 G>C_DRFVAICHPLHYPIIMNPRLCGFLI
13:43180672-43180672 G>A	0.0	4244	COLON	-	-	ID=COSM1706732;OCCURENCE=1(skin)	-	TNFSF11	uc001uyt.2,p.R118Q|NM_033012,p.R118Q|ENST00000239849,p.R191Q|ENST00000358545,p.R118Q|ENST00000405262,p.R118Q|NM_003701,p.R191Q|ENST00000398795,p.R118Q|uc001uyu.2,p.R191Q|ENST00000544862,p.R118Q	protein_coding	uc001uyu.2	nonsynonymous SNV	exon5	c.G572A	p.R191Q	SHKVSLSSWYHDRGWAKISNMTFSN	SHKVSLSSWYHDQGWAKISNMTFSN	5.0	4.0	unscreened	-	4244_13:43180672-43180672 G>A_SHKVSLSSWYHDQGWAKISNMTFSN
11:55322140-55322140 T>A	0.0	4244	COLON	-	-	-	-	OR4C15	NM_001001920,p.S120T|ENST00000314644,p.S120T|uc010rig.2,p.S120T	protein_coding	uc010rig.2	nonsynonymous SNV	exon1	c.T358A	p.S120T	LVSPMYFFLGFLSFLDACFSSVITP	LVSPMYFFLGFLTFLDACFSSVITP	1.0	4.0	unscreened	-	4244_11:55322140-55322140 T>A_LVSPMYFFLGFLTFLDACFSSVITP
5:128864280-128864280 A>C	0.0	4244	COLON	-	-	-	-	ADAMTS19	NM_133638,p.E407A|uc003kvb.1,p.E407A|ENST00000274487,p.E407A	protein_coding, processed_transcript, nonsense_mediated_decay	uc003kvb.1	nonsynonymous SNV	exon6	c.A1220C	p.E407A	KMLESFCKWQHEEFGKKNDIHLEMS	KMLESFCKWQHEAFGKKNDIHLEMS	1.0	3.0	unscreened	-	4244_5:128864280-128864280 A>C_KMLESFCKWQHEAFGKKNDIHLEMS
22:30499464-30499464 C>A	0.0	4244	COLON	-	-	-	-	HORMAD2	ENST00000336726,p.P78T|NM_152510,p.P78T|ENST00000403975,p.P78T|uc031rxm.1,p.P78T|uc003agy.3,p.P78T	retained_intron, protein_coding, nonsense_mediated_decay	uc031rxm.1	nonsynonymous SNV	exon4	c.C232A	p.P78T	LSLKILREDKKCPGSLHIIRWIQGC	LSLKILREDKKCTGSLHIIRWIQGC	1.0	3.0	unscreened	-	4244_22:30499464-30499464 C>A_LSLKILREDKKCTGSLHIIRWIQGC
1:248844900-248844900 A>C	0.0	4244	COLON	-	-	-	-	OR14I1	ENST00000342623,p.F236V|NM_001004734,p.F236V|uc001ieu.1,p.F236V	protein_coding	uc001ieu.1	nonsynonymous SNV	exon1	c.T706G	p.F236V	LRIPSGQSRAKAFSTCSPQLIVIML	LRIPSGQSRAKAVSTCSPQLIVIML	1.0	5.0	unscreened	-	4244_1:248844900-248844900 A>C_LRIPSGQSRAKAVSTCSPQLIVIML
2:228881591-228881591 C>G	0.0	4244	COLON	-	-	-	-	SPHKAP	ENST00000344657,p.D1327H|NM_001142644,p.D1327H|uc010zlx.1,p.D1327H|uc002vpp.2,p.D1327H|ENST00000392056,p.D1327H|NM_030623,p.D1327H|uc002vpq.2,p.D1327H	retained_intron, protein_coding	uc010zlx.1	nonsynonymous SNV	exon7	c.G3979C	p.D1327H	EALMRKNKIIVDDAEEADTEPVSGG	EALMRKNKIIVDHAEEADTEPVSGG	1.0	5.0	unscreened	-	4244_2:228881591-228881591 C>G_EALMRKNKIIVDHAEEADTEPVSGG
3:151165076-151165076 A>C	0.0	4244	COLON	-	-	-	-	IGSF10	uc011bod.2,p.L898R|NM_178822,p.L898R|ENST00000282466,p.L898R	protein_coding, processed_transcript	uc011bod.2	nonsynonymous SNV	exon4	c.T2693G	p.L898R	TNQHSSTVFPLLLGATEFQDSDQMG	TNQHSSTVFPLLRGATEFQDSDQMG	5.0	3.0	unscreened	-	4244_3:151165076-151165076 A>C_TNQHSSTVFPLLRGATEFQDSDQMG
22:30499464-30499464 C>A	0.0	4244	COLON	-	-	-	-	HORMAD2	ENST00000450612,p.P78T	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000450612	nonsynonymous SNV	exon4	c.C232A	p.P78T	LSLKILREDKKCPGSLHIIRCYVWQ	LSLKILREDKKCTGSLHIIRCYVWQ	1.0	3.0	unscreened	-	4244_22:30499464-30499464 C>A_LSLKILREDKKCTGSLHIIRCYVWQ
1:62675645-62675674 CCTCAGGGCTGGAGGAGGAGGAGGAAGAGC>-	0.0	4244	COLON	-	-	ID=COSM1343768;OCCURENCE=4(large_intestine)	-	L1TD1	NM_019079,p.400_410del|NM_001164835,p.400_410del|uc021ooc.1,p.400_410del|ENST00000498273,p.400_410del|uc001dae.4,p.400_410del	protein_coding	uc021ooc.1	nonframeshift deletion	exon5	c.1199_1228del	p.400_410del	DEEASGMEDDEDTSGLEEEEEEPSGL	DEEASGMEDDEDTSGLEEEEEEEAS	4.0	6.0	unscreened	-	4244_1:62675645-62675674 CCTCAGGGCTGGAGGAGGAGGAGGAAGAGC>-_DEEASGMEDDEDTSGLEEEEEEEAS
X:64709124-64709124 T>G	0.0	4244	COLON	-	-	-	-	ZC3H12B	ENST00000338957,p.L148R|uc010nko.3,p.L148R|ENST00000423889,p.L137R|NM_001010888,p.L148R	protein_coding	uc010nko.3	nonsynonymous SNV	exon1	c.T443G	p.L148R	SLINDVLAELVRLGNKGDSEGQINL	SLINDVLAELVRRGNKGDSEGQINL	4.0	1.0	unscreened	-	4244_X:64709124-64709124 T>G_SLINDVLAELVRRGNKGDSEGQINL
19:40519979-40519979 G>T	0.0	4244	COLON	-	-	-	-	ZNF546	uc002omt.2,p.A242S|ENST00000347077,p.A268S|ENST00000600094,p.A242S|NM_001297763,p.A242S|NM_178544,p.A268S|uc002oms.2,p.A268S	retained_intron, protein_coding, processed_transcript	uc002omt.2	nonsynonymous SNV	exon7	c.G724T	p.A242S	RVGDLRVHHTIHAGERPYECKECGK	RVGDLRVHHTIHSGERPYECKECGK	5.0	1.0	unscreened	-	4244_19:40519979-40519979 G>T_RVGDLRVHHTIHSGERPYECKECGK
2:70890787-70890787 C>T	0.0	4244	COLON	-	-	ID=COSM1752624;OCCURENCE=2(urinary_tract)	-	ADD2	ENST00000403045,p.G651R|ENST00000264436,p.G651R|uc002sgz.3,p.G651R|NM_001185054,p.G651R|ENST00000407644,p.G651R|NM_001617,p.G651R|uc021vjc.1,p.G651R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vjc.1	nonsynonymous SNV	exon16	c.G1951A	p.G651R	PETTQPEGVVVNGREEEQTAEEILS	PETTQPEGVVVNRREEEQTAEEILS	5.0	4.0	unscreened	-	4244_2:70890787-70890787 C>T_PETTQPEGVVVNRREEEQTAEEILS
18:44159643-44159643 G>A	0.0	4244	COLON	-	-	-	-	LOXHD1	NM_144612,p.R587W|uc010xcw.1,p.R587W|ENST00000536736,p.R587W|uc002lcg.1,p.R309W|ENST00000441551,p.R587W|ENST00000398722,p.R309W	retained_intron, protein_coding, nonsense_mediated_decay	uc010xcw.1	nonsynonymous SNV	exon13	c.C1759T	p.R587W	LCLFGDVGDTGERLLYNCRNNTDLF	LCLFGDVGDTGEWLLYNCRNNTDLF	4.0	3.0	unscreened	-	4244_18:44159643-44159643 G>A_LCLFGDVGDTGEWLLYNCRNNTDLF
7:21721207-21721207 T>G	0.0	4244	COLON	-	-	-	-	DNAH11	ENST00000328843,p.L1796R|NM_001277115,p.L1791R|ENST00000409508,p.L1791R|uc031swp.1,p.L1791R	retained_intron, protein_coding, processed_transcript	uc031swp.1	nonsynonymous SNV	exon31	c.T5372G	p.L1791R	QLNTLITLLLGELPPGDRQKIMTIC	QLNTLITLLLGERPPGDRQKIMTIC	4.0	2.0	unscreened	-	4244_7:21721207-21721207 T>G_QLNTLITLLLGERPPGDRQKIMTIC
14:77685161-77685161 C>G	0.0	4244	COLON	-	-	-	-	TMEM63C	ENST00000557752,p.L52V	 protein_coding,retained_intron	ENST00000557752	nonsynonymous SNV	exon3	c.C154G	p.L52V	KDSGFSGILPGCLPHQTT	KDSGFSGILPGCVPHQTT	4.0	2.0	unscreened	-	4244_14:77685161-77685161 C>G_KDSGFSGILPGCVPHQTT
4:104640753-104640753 G>A	0.0	4244	COLON	-	-	ID=COSM3775457;OCCURENCE=1(urinary_tract)	-	TACR3	NM_001059,p.S27L|uc003hxe.1,p.S27L|ENST00000304883,p.S27L	protein_coding	uc003hxe.1	nonsynonymous SNV	exon1	c.C80T	p.S27L	GGVGADAVNLTASLAAGAATGAVET	GGVGADAVNLTALLAAGAATGAVET	1.0	1.0	unscreened	-	4244_4:104640753-104640753 G>A_GGVGADAVNLTALLAAGAATGAVET
1:157772364-157772364 G>T	0.0	4244	COLON	-	-	-	-	FCRL1	uc001frg.3,p.A137D|ENST00000491942,p.A137D|uc001fri.3,p.A137D|NM_001159397,p.A137D|ENST00000358292,p.A137D|NM_001159398,p.A137D|ENST00000368176,p.A137D|uc001frh.3,p.A137D|NM_052938,p.A137D	protein_coding, processed_transcript	uc001fri.3	nonsynonymous SNV	exon4	c.C410A	p.A137D	MEGDRLVLICSVAMGTGDITFLWYK	MEGDRLVLICSVDMGTGDITFLWYK	4.0	1.0	unscreened	-	4244_1:157772364-157772364 G>T_MEGDRLVLICSVDMGTGDITFLWYK
11:104874010-104874010 ->T	1.0	4244	COLON	-	-	-	-	CASP5	uc010rvc.1,p.N36fs|NM_004347,p.N178fs|uc010rva.1,p.N178fs|NM_001136110,p.N36fs|ENST00000260315,p.N178fs|ENST00000444749,p.N120fs|ENST00000418434,p.N36fs|NM_001136112,p.N191fs|ENST00000526056,p.N191fs|uc010rvb.1,p.N120fs|ENST00000393141,p.N191fs|ENST00000531367,p.N36fs|NM_001136109,p.N120fs|ENST00000456094,p.N162fs|uc010ruz.1,p.N191fs	protein_coding, nonsense_mediated_decay	uc010rvc.1	frameshift insertion	exon2	c.107dupA	p.N36fs	CPREEFLRLCKKNHDEIYPIKKRED	CPREEFLRLCKKKS	7.0	2.0	-	-	4244_11:104874010-104874010 ->T_CPREEFLRLCKKKS
3:142123865-142123865 C>G	1.0	4244	COLON	-	-	-	-	XRN1	NM_019001,p.E589D|uc003euv.1,p.E450D|NM_001282857,p.E589D|uc003euu.3,p.E589D|ENST00000392981,p.E589D|uc003eut.3,p.E589D|ENST00000264951,p.E589D|uc003eus.3,p.E589D|uc010huu.3,p.E55D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010huu.3	nonsynonymous SNV	exon2	c.G165C	p.E55D	AMETCNHSLKKEERKRNQHSECLMC	AMETCNHSLKKEDRKRNQHSECLMC	6.0	1.0	-	-	4244_3:142123865-142123865 C>G_AMETCNHSLKKEDRKRNQHSECLMC
18:44774471-44774471 C>T	0.0	4244	COLON	-	-	-	-	SKOR2	NM_001278063,p.V362M|ENST00000425639,p.V362M|uc031rif.1,p.V362M	protein_coding	uc031rif.1	nonsynonymous SNV	exon1	c.G1084A	p.V362M	GGAGGGCVAGVGVGAGAGAGAGAGA	GGAGGGCVAGVGMGAGAGAGAGAGA	1.0	2.0	unscreened	-	4244_18:44774471-44774471 C>T_GGAGGGCVAGVGMGAGAGAGAGAGA
14:77685161-77685161 C>G	0.0	4244	COLON	-	-	-	-	TMEM63C	NM_020431,p.S2C|uc010asq.1,p.S2C|ENST00000557408,p.S2C|uc001xtf.2,p.S2C|ENST00000554766,p.S2C|ENST00000554346,p.S2C|ENST00000555338,p.S2C|ENST00000556514,p.S2C|ENST00000298351,p.S2C	 protein_coding,retained_intron	uc010asq.1	nonsynonymous SNV	exon3	c.C5G	p.S2C	MSASPDDLSTGGRL	MCASPDDLSTGGRL	4.0	2.0	unscreened	-	4244_14:77685161-77685161 C>G_MCASPDDLSTGGRL
7:44154936-44154936 A>C	1.0	4245	COLON	-	-	-	-	POLD2	uc010kxz.4,p.F403V|uc010kya.4,p.F403V|ENST00000452185,p.F403V|NM_006230,p.F438V|NM_001127218,p.F403V|ENST00000406581,p.F403V|NM_001256879,p.F403V|uc003tkf.5,p.F438V	retained_intron, protein_coding, processed_transcript	uc010kya.4	nonsynonymous SNV	exon10	c.T1207G	p.F403V	DPFIFPECPHVYFCGNTPSFGSKII	DPFIFPECPHVYVCGNTPSFGSKII	10.0	4.0	-	-	4245_7:44154936-44154936 A>C_DPFIFPECPHVYVCGNTPSFGSKII
4:17805325-17805325 A>T	1.0	4245	COLON	-	-	-	-	DCAF16	ENST00000382247,p.F147Y|uc021xmp.1,p.F147Y|uc003gpn.3,p.F147Y|NM_017741,p.F147Y|ENST00000536863,p.F147Y	protein_coding, processed_transcript	uc021xmp.1	nonsynonymous SNV	exon1	c.T440A	p.F147Y	SRDHATLNGALQFATKQLSRTLSRA	SRDHATLNGALQYATKQLSRTLSRA	8.0	6.0	-	-	4245_4:17805325-17805325 A>T_SRDHATLNGALQYATKQLSRTLSRA
2:85863205-85863205 C>A	1.0	4245	COLON	-	-	-	-	USP39	uc010ysv.3,p.L224M|uc002sqg.4,p.L327M|ENST00000409025,p.L327M|NM_001256726,p.L327M|uc002sqb.4,p.L58M|NM_001256727,p.L249M|NM_001256725,p.L327M|uc010fgn.2,p.L327M|ENST00000450066,p.L224M|ENST00000409470,p.L327M|uc010fgo.4,p.L327M|uc010ysu.3,p.L249M|ENST00000323701,p.L327M|ENST00000409766,p.L327M|NM_001256728,p.L224M|uc002sqe.4,p.L327M|NM_006590,p.L327M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ysv.3	nonsynonymous SNV	exon6	c.C670A	p.L224M	KQGDGVDFLSWFLNALHSALGGTKK	KQGDGVDFLSWFMNALHSALGGTKK	9.0	3.0	-	-	4245_2:85863205-85863205 C>A_KQGDGVDFLSWFMNALHSALGGTKK
20:7968005-7968005 C>A	1.0	4245	COLON	-	-	-	-	TMX4	ENST00000527925,p.G154V|ENST00000246024,p.G182V|uc002wmx.1,p.G182V|NM_021156,p.G182V	protein_coding, processed_transcript, nonsense_mediated_decay	uc002wmx.1	nonsynonymous SNV	exon6	c.G545T	p.G182V	IWHLHNYFTVTLGIPAWCSYVFFVI	IWHLHNYFTVTLVIPAWCSYVFFVI	8.0	10.0	-	-	4245_20:7968005-7968005 C>A_IWHLHNYFTVTLVIPAWCSYVFFVI
5:56179454-56179454 C>T	1.0	4245	COLON	-	-	-	1	MAP3K1	ENST00000399503,p.S1256F|uc003jqw.4,p.S1256F|NM_005921,p.S1256F	retained_intron, protein_coding	uc003jqw.4	nonsynonymous SNV	exon15	c.C3767T	p.S1256F	LKGQQIGLGAFSSCYQAQDVGTGTL	LKGQQIGLGAFSFCYQAQDVGTGTL	6.0	9.0	-	-	4245_5:56179454-56179454 C>T_LKGQQIGLGAFSFCYQAQDVGTGTL
2:61475772-61475772 T>C	1.0	4245	COLON	-	-	-	-	USP34	uc002sbe.3,p.R2090G|ENST00000398571,p.R2090G|ENST00000453734,p.R368G|uc002sbf.3,p.R240G|NM_014709,p.R2090G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002sbf.3	nonsynonymous SNV	exon11	c.A718G	p.R240G	KKLPRILSFNTMRYTFNMVTMMKEK	KKLPRILSFNTMGYTFNMVTMMKEK	9.0	1.0	-	-	4245_2:61475772-61475772 T>C_KKLPRILSFNTMGYTFNMVTMMKEK
9:5763492-5763492 G>T	1.0	4245	COLON	-	-	ID=COSM1109396;OCCURENCE=1(endometrium)	-	RIC1	ENST00000414202,p.R822I|ENST00000251879,p.R822I|ENST00000418622,p.R743I|uc003zjj.1,p.R285I|uc003zjl.4,p.R785I|NM_020829,p.R822I|uc003zjh.4,p.R822I|ENST00000381532,p.R743I|NM_001206557,p.R785I|uc003zji.4,p.R822I|NM_001135920,p.R822I|ENST00000449720,p.R706I	retained_intron, protein_coding, nonsense_mediated_decay	uc003zjl.4	nonsynonymous SNV	exon18	c.G2354T	p.R785I	QLEVLFPFCVVERTSQIYLHHILRQ	QLEVLFPFCVVEITSQIYLHHILRQ	6.0	9.0	-	-	4245_9:5763492-5763492 G>T_QLEVLFPFCVVEITSQIYLHHILRQ
3:185766516-185766516 G>A	1.0	4245	COLON	-	-	-	1	ETV5	ENST00000537818,p.P524L|uc003fpy.3,p.P524L|ENST00000306376,p.P482L|uc003fpz.3,p.P482L|ENST00000434744,p.P482L|NM_004454,p.P482L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003fpz.3	nonsynonymous SNV	exon13	c.C1445T	p.P482L	ESECHLSEEDTLPLTHFEDSPAYLL	ESECHLSEEDTLLLTHFEDSPAYLL	8.0	8.0	-	-	4245_3:185766516-185766516 G>A_ESECHLSEEDTLLLTHFEDSPAYLL
17:61909123-61909123 C>T	1.0	4245	COLON	-	-	-	-	PSMC5	NM_002805,p.R374W|uc010ddy.3,p.R351W|ENST00000310144,p.R374W|uc002jcb.3,p.R374W|ENST00000581882,p.R366W|ENST00000580864,p.R366W|uc002jcd.3,p.R366W|ENST00000375812,p.R366W|NM_001199163,p.R366W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ddy.3	nonsynonymous SNV	exon10	c.C1051T	p.R351W	VCTEAGMYALRERRVHVTQEDFEMA	VCTEAGMYALREWRVHVTQEDFEMA	10.0	7.0	-	-	4245_17:61909123-61909123 C>T_VCTEAGMYALREWRVHVTQEDFEMA
3:51992304-51992304 C>A	1.0	4245	COLON	-	-	-	-	PCBP4	uc003dce.2,p.C330F	retained_intron, protein_coding, nonsense_mediated_decay	uc003dce.2	nonsynonymous SNV	exon13	c.G989T	p.C330F	WGDAQLGPRRPACPLLATPDGPAHS	WGDAQLGPRRPAFPLLATPDGPAHS	9.0	4.0	-	-	4245_3:51992304-51992304 C>A_WGDAQLGPRRPAFPLLATPDGPAHS
11:67375936-67375936 C>T	1.0	4245	COLON	-	-	-	-	NDUFV1	NM_007103,p.R48C|NM_001166102,p.R39C|ENST00000322776,p.R48C|uc001oml.2,p.R41C|uc001omj.2,p.R48C|ENST00000528328,p.R31C|uc001omk.4,p.R39C|ENST00000529927,p.R39C|ENST00000415352,p.R41C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001oml.2	nonsynonymous SNV	exon2	c.C121T	p.R41C	KDEDRIFTNLYGRHDWRLKGSLSRG	KDEDRIFTNLYGCHDWRLKGSLSRG	10.0	9.0	-	-	4245_11:67375936-67375936 C>T_KDEDRIFTNLYGCHDWRLKGSLSRG
6:110714019-110714019 C>A	1.0	4245	COLON	-	-	-	-	DDO	ENST00000368923,p.V298F|uc003puc.3,p.V357F|NM_003649,p.V357F|uc003pud.3,p.V298F|ENST00000368924,p.V357F|NM_004032,p.V298F|ENST00000368925,p.V329F	protein_coding, nonsense_mediated_decay	uc003pud.3	nonsynonymous SNV	exon4	c.G892T	p.V298F	TALEAARLVSECVHALRTPIPKSNL	TALEAARLVSECFHALRTPIPKSNL	7.0	6.0	-	-	4245_6:110714019-110714019 C>A_TALEAARLVSECFHALRTPIPKSNL
17:39767891-39767891 T>G	1.0	4245	COLON	-	-	-	-	KRT16	ENST00000301653,p.K205T|uc002hxg.4,p.K205T|NM_005557,p.K205T	retained_intron, protein_coding	uc002hxg.4	nonsynonymous SNV	exon2	c.A614C	p.K205T	DNARLAADDFRTKYEHELALRQTVE	DNARLAADDFRTTYEHELALRQTVE	5.0	3.0	-	-	4245_17:39767891-39767891 T>G_DNARLAADDFRTTYEHELALRQTVE
9:131765186-131765186 A>C	1.0	4245	COLON	-	-	-	-	NUP188	uc004bws.2,p.T1410P|uc004bwu.3,p.T753P|ENST00000372577,p.T1410P|NM_015354,p.T1410P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004bwu.3	nonsynonymous SNV	exon18	c.A2257C	p.T753P	RLSMSLMEQLLKTLRYNFLPEALDF	RLSMSLMEQLLKPLRYNFLPEALDF	7.0	4.0	-	-	4245_9:131765186-131765186 A>C_RLSMSLMEQLLKPLRYNFLPEALDF
11:65984012-65984012 A>G	1.0	4245	COLON	-	-	-	-	PACS1	NM_018026,p.N276S|uc001ogz.1,p.N276S|uc001oha.2,p.N276S|ENST00000320580,p.N276S	retained_intron, protein_coding, nonsense_mediated_decay	uc001oha.2	nonsynonymous SNV	exon6	c.A827G	p.N276S	KSKLSDRSPDIDNYSEEEEESFSSE	KSKLSDRSPDIDSYSEEEEESFSSE	7.0	9.0	-	-	4245_11:65984012-65984012 A>G_KSKLSDRSPDIDSYSEEEEESFSSE
8:19263439-19263439 T>G	1.0	4245	COLON	-	-	-	-	CSGALNACT1	NM_001130518,p.E484A|uc011kyn.2,p.E484A|ENST00000454498,p.E484A|ENST00000311540,p.E484A|uc011kyo.2,p.E484A|ENST00000544602,p.E484A|ENST00000522854,p.E484A|uc011kyp.2,p.E484A|NM_018371,p.E484A|ENST00000332246,p.E484A	protein_coding, processed_transcript, nonsense_mediated_decay	uc011kyp.2	nonsynonymous SNV	exon9	c.A1451C	p.E484A	LFHLWHEKRCMDELTPEQYKMCMQS	LFHLWHEKRCMDALTPEQYKMCMQS	7.0	2.0	-	-	4245_8:19263439-19263439 T>G_LFHLWHEKRCMDALTPEQYKMCMQS
9:130270437-130270437 G>A	1.0	4245	COLON	-	-	-	-	FAM129B	uc004brj.4,p.R493W|ENST00000373314,p.R480W|ENST00000373312,p.R493W|NM_022833,p.R493W|uc004bri.3,p.R480W|uc004brh.3,p.R493W|NM_001035534,p.R480W	protein_coding, processed_transcript	uc004brj.4	nonsynonymous SNV	exon12	c.C1477T	p.R493W	DYDSSSVRKRFFREALLQISIPFLL	DYDSSSVRKRFFWEALLQISIPFLL	10.0	8.0	-	-	4245_9:130270437-130270437 G>A_DYDSSSVRKRFFWEALLQISIPFLL
16:30680764-30680764 G>A	1.0	4245	COLON	-	-	ID=COSM969909;OCCURENCE=1(endometrium)	-	FBRS	ENST00000568722,p.R306H|ENST00000287468,p.R394H|ENST00000395073,p.R306H|ENST00000356166,p.R914H|uc002dzc.4,p.R306H|NM_001105079,p.R394H|uc002dzd.4,p.R394H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dzd.4	nonsynonymous SNV	exon12	c.G1181A	p.R394H	EELTGPGAVAAARLYGLEPAHPLLY	EELTGPGAVAAAHLYGLEPAHPLLY	8.0	9.0	-	-	4245_16:30680764-30680764 G>A_EELTGPGAVAAAHLYGLEPAHPLLY
19:1612359-1612359 G>A	1.0	4245	COLON	-	-	-	1	TCF3	uc002lts.1,p.R469W|ENST00000344749,p.R554W|ENST00000588136,p.R554W|uc002ltt.4,p.R554W|NM_001136139,p.R554W|ENST00000453954,p.R469W|ENST00000590684,p.R62W|ENST00000585731,p.R44W	retained_intron, protein_coding, nonsense_mediated_decay	uc002ltt.4	nonsynonymous SNV	exon17	c.C1660T	p.R554W	LRDRERRMANNARERVRVRDINEAF	LRDRERRMANNAWERVRVRDINEAF	10.0	10.0	-	-	4245_19:1612359-1612359 G>A_LRDRERRMANNAWERVRVRDINEAF
X:17065475-17065475 T>A	1.0	4245	COLON	-	-	-	-	REPS2	uc011miw.1,p.F118L|uc004cxw.1,p.F258L|ENST00000380064,p.F119L|NM_001080975,p.F258L|ENST00000303843,p.F258L|ENST00000357277,p.F259L|NM_004726,p.F259L|uc004cxv.1,p.F259L	retained_intron, protein_coding, processed_transcript	uc011miw.1	nonsynonymous SNV	exon6	c.T354A	p.F118L	KPLRHQASLIRSFSVERELQDNSSY	KPLRHQASLIRSLSVERELQDNSSY	8.0	3.0	-	-	4245_X:17065475-17065475 T>A_KPLRHQASLIRSLSVERELQDNSSY
8:28651392-28651392 G>T	1.0	4245	COLON	-	-	-	-	INTS9	NM_018250,p.S323R|ENST00000523303,p.S323R|ENST00000521777,p.S299R|uc011lav.2,p.S299R|uc003xha.3,p.S323R|NM_001172562,p.S299R|uc011lax.2,p.S216R|NM_001145159,p.S302R|ENST00000521022,p.S323R|uc011law.2,p.S302R|ENST00000397363,p.S217R|ENST00000523436,p.S278R|ENST00000416984,p.S302R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lax.2	nonsynonymous SNV	exon8	c.C648A	p.S216R	CLYQYIDSAGLSSVPLYFISPVANS	CLYQYIDSAGLSRVPLYFISPVANS	8.0	5.0	-	-	4245_8:28651392-28651392 G>T_CLYQYIDSAGLSRVPLYFISPVANS
1:154185022-154185022 C>T	1.0	4245	COLON	-	-	-	-	C1orf43	ENST00000362076,p.R88Q|ENST00000368516,p.R106Q|NM_001297718,p.R105Q|NM_001297720,p.R122Q|uc001feg.2,p.R106Q|uc001fek.3,p.R140Q|NM_015449,p.R106Q|NM_138740,p.R88Q|NM_001297717,p.R122Q|uc009wos.1,p.R122Q|NM_001297723,p.R140Q|NM_001098616,p.R140Q|ENST00000368519,p.R122Q|ENST00000350592,p.R106Q|NM_001297721,p.R106Q|ENST00000368521,p.R140Q|ENST00000368518,p.R140Q|uc001fei.2,p.R140Q|uc001feh.2,p.R88Q	protein_coding, processed_transcript	uc009wos.1	nonsynonymous SNV	exon4	c.G365A	p.R122Q	MGKNFRSYLLDLRNTSTPFKGVRKA	MGKNFRSYLLDLQNTSTPFKGVRKA	10.0	4.0	-	-	4245_1:154185022-154185022 C>T_MGKNFRSYLLDLQNTSTPFKGVRKA
7:150648881-150648881 G>A	1.0	4245	COLON	-	-	-	-	KCNH2	uc011kux.2,p.R438C|NM_001204798,p.R194C|ENST00000430723,p.R534C|ENST00000330883,p.R194C|uc003wic.3,p.R534C|NM_172056,p.R534C|ENST00000262186,p.R534C|uc003wib.3,p.R194C|NM_000238,p.R534C|uc003wie.3,p.R534C|ENST00000392968,p.R438C|NM_172057,p.R194C|uc003wid.3,p.R194C	retained_intron, protein_coding	uc011kux.2	nonsynonymous SNV	exon5	c.C1312T	p.R438C	GLLKTARLLRLVRVARKLDRYSEYG	GLLKTARLLRLVCVARKLDRYSEYG	8.0	8.0	-	-	4245_7:150648881-150648881 G>A_GLLKTARLLRLVCVARKLDRYSEYG
8:67344768-67344768 G>A	0.0	4245	COLON	-	-	-	-	ADHFE1	ENST00000443372,p.R6Q|ENST00000449512,p.R6Q|ENST00000422166,p.R6Q|ENST00000419955,p.R6Q|ENST00000431959,p.R6Q|ENST00000424777,p.R6Q|NM_144650,p.R6Q|ENST00000276576,p.R6Q|ENST00000396621,p.R6Q|ENST00000396623,p.R6Q|uc003xwb.4,p.R6Q|ENST00000379385,p.R6Q|ENST00000426810,p.R6Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xwb.4	nonsynonymous SNV	exon1	c.G17A	p.R6Q	MAAAARARVAYLLRQLQR	MAAAAQARVAYLLRQLQR	6.0	5.0	-	-	4245_8:67344768-67344768 G>A_MAAAAQARVAYLLRQLQR
6:74348152-74348152 A>C	1.0	4245	COLON	-	-	-	-	SLC17A5	uc003phn.4,p.L199R|NM_012434,p.L199R|ENST00000355773,p.L199R	protein_coding, processed_transcript	uc003phn.4	nonsynonymous SNV	exon4	c.T596G	p.L199R	SSWAPPLERSKLLSISYAGAQLGTV	SSWAPPLERSKLRSISYAGAQLGTV	9.0	3.0	-	-	4245_6:74348152-74348152 A>C_SSWAPPLERSKLRSISYAGAQLGTV
2:37247004-37247004 C>A	1.0	4245	COLON	-	-	-	-	HEATR5B	ENST00000233099,p.R1351I|NM_019024,p.R1351I|uc002rpp.1,p.R1351I|ENST00000354531,p.R1351I	retained_intron, protein_coding	uc002rpp.1	nonsynonymous SNV	exon26	c.G4052T	p.R1351I	LEQYQANVGAALRPAFSQDTPSDII	LEQYQANVGAALIPAFSQDTPSDII	7.0	1.0	-	-	4245_2:37247004-37247004 C>A_LEQYQANVGAALIPAFSQDTPSDII
15:99482521-99482521 A>G	0.0	4245	COLON	-	-	-	-	IGF1R	NM_000875,p.K1130R|ENST00000268035,p.K1130R|uc010bon.3,p.K1129R|ENST00000558762,p.K1129R|NM_001291858,p.K1129R|uc002bul.3,p.K1130R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bon.3	nonsynonymous SNV	exon18	c.A3386G	p.K1129R	EIADGMAYLNANKFVHRDLAARNCM	EIADGMAYLNANRFVHRDLAARNCM	8.0	2.0	-	-	4245_15:99482521-99482521 A>G_EIADGMAYLNANRFVHRDLAARNCM
9:2182160-2182160 A>C	1.0	4245	COLON	-	-	-	-	SMARCA2	ENST00000452193,p.K124T|ENST00000349721,p.K1460T|ENST00000382203,p.K1460T|ENST00000382194,p.K1442T|uc010mha.3,p.K1375T|NM_001289398,p.K118T|ENST00000382183,p.K106T|uc003zhd.3,p.K1442T|uc003zhc.3,p.K1460T|ENST00000324954,p.K106T|uc011llx.2,p.K106T|uc011llw.2,p.K146T|ENST00000416751,p.K106T|NM_001289397,p.K1384T|ENST00000417599,p.K146T|NM_001289396,p.K1460T|NM_001289399,p.K146T|ENST00000382185,p.K106T|ENST00000302401,p.K148T|uc010mhb.3,p.K130T|NM_003070,p.K1460T|NM_139045,p.K1442T|ENST00000382186,p.K124T|uc003zhe.3,p.K148T|ENST00000357248,p.K1442T|NM_001289400,p.K148T	protein_coding, processed_transcript	uc011llx.2	nonsynonymous SNV	exon6	c.A317C	p.K106T	DFKKIKERIRNHKYRSLGDLEKDVM	DFKKIKERIRNHTYRSLGDLEKDVM	9.0	5.0	-	-	4245_9:2182160-2182160 A>C_DFKKIKERIRNHTYRSLGDLEKDVM
3:9711119-9711119 G>T	1.0	4245	COLON	-	-	-	-	MTMR14	NM_001077525,p.G166V|ENST00000351233,p.G166V|uc003bsa.3,p.G166V|ENST00000296003,p.G166V|ENST00000353332,p.G166V|uc003brz.3,p.G166V|uc003bsb.3,p.G166V|NM_001077526,p.G166V|NM_022485,p.G166V	retained_intron, protein_coding, nonsense_mediated_decay	uc003bsb.3	nonsynonymous SNV	exon5	c.G497T	p.G166V	YGRSGYNYFFSGGADDAWADVEDVT	YGRSGYNYFFSGVADDAWADVEDVT	9.0	8.0	-	-	4245_3:9711119-9711119 G>T_YGRSGYNYFFSGVADDAWADVEDVT
1:200972854-200972854 G>A	0.0	4245	COLON	-	-	-	-	KIF21B	uc010ppn.2,p.L358F|NM_001252100,p.L358F|uc001gvs.2,p.L358F|NM_017596,p.L358F|uc009wzl.2,p.L358F|uc001gvt.1,p.L216F|uc001gvr.2,p.L358F|ENST00000332129,p.L358F|NM_001252102,p.L358F|ENST00000422435,p.L358F|NM_001252103,p.L358F|ENST00000360529,p.L358F|ENST00000461742,p.L358F	retained_intron, protein_coding, nonsense_mediated_decay	uc010ppn.2	nonsynonymous SNV	exon8	c.C1072T	p.L358F	CVSPSDRDFMETLNTLKYANRARNI	CVSPSDRDFMETFNTLKYANRARNI	7.0	6.0	-	-	4245_1:200972854-200972854 G>A_CVSPSDRDFMETFNTLKYANRARNI
17:78704453-78704453 T>G	1.0	4245	COLON	-	-	-	-	RPTOR	ENST00000537330,p.L16V|uc010wuf.1,p.L16V|ENST00000570891,p.L201V|ENST00000544334,p.L201V|uc002jys.3,p.L201V|uc002jyt.1,p.L201V|uc010wug.1,p.L201V|ENST00000306801,p.L201V|NM_020761,p.L201V|NM_001163034,p.L201V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wug.1	nonsynonymous SNV	exon5	c.T601G	p.L201V	PSIFVYDCSNAGLIVKSFKQFALQR	PSIFVYDCSNAGVIVKSFKQFALQR	7.0	5.0	-	-	4245_17:78704453-78704453 T>G_PSIFVYDCSNAGVIVKSFKQFALQR
19:1012178-1012178 C>T	1.0	4245	COLON	-	-	-	-	TMEM259	ENST00000333175,p.R243Q|NM_033420,p.R243Q|uc002lqs.1,p.R243Q|NM_001033026,p.R243Q|uc002lqr.1,p.R243Q|ENST00000607316,p.R74Q|ENST00000356663,p.R243Q	retained_intron, protein_coding, processed_transcript	uc002lqs.1	nonsynonymous SNV	exon5	c.G728A	p.R243Q	SIPVMVVTLDPTRDQCFGDRFSRLL	SIPVMVVTLDPTQDQCFGDRFSRLL	9.0	9.0	-	-	4245_19:1012178-1012178 C>T_SIPVMVVTLDPTQDQCFGDRFSRLL
11:47380277-47380278 CA>-	0.0	4245	COLON	-	-	-	-	SPI1	uc009ylp.1,p.C198fs|ENST00000533968,p.C204fs	protein_coding	uc009ylp.1	frameshift deletion	exon4	c.592_593del	p.C198fs	QQPRHRVACVCVCMFASVCVLWGCL	QQPRHRVACVCVHVCQCVCFVGLSVAVSVCVYLLCSAYGHLHEVCQVCVSLCAM	8.0	1.0	-	translated beyond stop codon reached end of cDNA PR	4245_11:47380277-47380278 CA>-_QQPRHRVACVCVHVCQCVCFVGLSVAVSVCVYLLCSAYGHLHEVCQVCVSLCAM
17:7577538-7577538 C>T	1.0	4245	COLON	-	-	ID=COSM99021,COSM99020,COSM10662,COSM99602,COSM3356964,COSM1640830;OCCURENCE=37(urinary_tract),1(adrenal_gland),2(kidney),17(pancreas),8(liver),5(prostate),154(large_intestine),4(biliary_tract),72(breast),13(skin),7(small_intestine),12(endometrium),1(pituitary),32(ovary),3(cervix),58(haematopoietic_and_lymphoid_tissue),1(pleura),5(thyroid),1(peritoneum),18(lung),37(upper_aerodigestive_tract),2(NS),4(bone),3(vulva),37(oesophagus),45(central_nervous_system),37(stomach)	1	TP53	NM_001276696,p.R209Q|NM_000546,p.R248Q|NM_001276699,p.R89Q|NM_001126116,p.R116Q|NM_001276697,p.R89Q|ENST00000359597,p.R248Q|NM_001276761,p.R209Q|NM_001276760,p.R209Q|NM_001276695,p.R209Q|uc002gii.2,p.R89Q|uc002gio.3,p.R116Q|NM_001126113,p.R248Q|ENST00000413465,p.R248Q|uc010cng.2,p.R89Q|uc031qyq.1,p.R209Q|NM_001276698,p.R89Q|NM_001126112,p.R248Q|NM_001126117,p.R116Q|uc010cnf.2,p.R89Q|uc002gij.3,p.R209Q|uc002gih.3,p.R248Q|ENST00000509690,p.R116Q|ENST00000445888,p.R248Q|ENST00000420246,p.R248Q|NM_001126114,p.R248Q|ENST00000455263,p.R248Q|NM_001126115,p.R116Q|ENST00000269305,p.R248Q|uc002gig.1,p.R248Q|NM_001126118,p.R209Q|uc002gin.3,p.R155Q	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon6	c.G626A	p.R209Q	YMCNSSCMGGMNRRPILTIITLEDS	YMCNSSCMGGMNQRPILTIITLEDS	9.0	10.0	-	-	4245_17:7577538-7577538 C>T_YMCNSSCMGGMNQRPILTIITLEDS
17:7256482-7256482 G>A	1.0	4245	COLON	-	-	-	-	KCTD11	NM_001002914,p.R74Q|ENST00000333751,p.R74Q|uc002gge.4,p.R74Q	protein_coding, processed_transcript	uc002gge.4	nonsynonymous SNV	exon1	c.G221A	p.R74Q	DFYQIRPLLDALRELEASQGTPAPT	DFYQIRPLLDALQELEASQGTPAPT	7.0	9.0	-	-	4245_17:7256482-7256482 G>A_DFYQIRPLLDALQELEASQGTPAPT
3:194181508-194181508 C>G	1.0	4245	COLON	-	-	-	-	ATP13A3	ENST00000439040,p.G35A|ENST00000457986,p.G35A|NM_024524,p.G35A|uc003fty.4,p.G35A|ENST00000446356,p.G35A|ENST00000256031,p.G35A	retained_intron, protein_coding	uc003fty.4	nonsynonymous SNV	exon3	c.G104C	p.G35A	NLSRWKLAIVSLGVICSGGFLLLLL	NLSRWKLAIVSLAVICSGGFLLLLL	7.0	4.0	-	-	4245_3:194181508-194181508 C>G_NLSRWKLAIVSLAVICSGGFLLLLL
X:53228250-53228250 C>T	1.0	4245	COLON	-	-	-	1	KDM5C	ENST00000375379,p.A718T|ENST00000404049,p.A717T|NM_001146702,p.A651T|uc004drz.3,p.A718T|uc004dsa.3,p.A717T|NM_001282622,p.A717T|uc022bxe.1,p.A651T|ENST00000452825,p.A651T|ENST00000375401,p.A718T|ENST00000375383,p.A677T|NM_004187,p.A718T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022bxe.1	nonsynonymous SNV	exon13	c.G1951A	p.A651T	QCIKCKTTCFLSALACYDCPDGLVC	QCIKCKTTCFLSTLACYDCPDGLVC	9.0	1.0	-	-	4245_X:53228250-53228250 C>T_QCIKCKTTCFLSTLACYDCPDGLVC
9:132397525-132397525 C>T	1.0	4245	COLON	-	-	-	-	NTMT1	NM_001286797,p.R152C|ENST00000372486,p.R152C|ENST00000482347,p.R64C|NM_014064,p.R152C|ENST00000372483,p.R152C|NM_001286796,p.R152C|NM_001286799,p.R152C|NM_001286802,p.R64C|uc004byd.1,p.R152C|NM_001286803,p.R64C|NM_001286798,p.R152C|ENST00000372480,p.R152C	protein_coding, processed_transcript	uc004byd.1	nonsynonymous SNV	exon4	c.C454T	p.R152C	HLTDQHLAEFLRRCKGSLRPNGIIV	HLTDQHLAEFLRCCKGSLRPNGIIV	9.0	6.0	-	-	4245_9:132397525-132397525 C>T_HLTDQHLAEFLRCCKGSLRPNGIIV
12:109186588-109186588 T>G	1.0	4245	COLON	-	-	-	-	SSH1	NM_018984,p.K456T|ENST00000360239,p.K144T|uc001tnn.4,p.K456T|uc001tnm.3,p.K456T|ENST00000326495,p.K456T|uc001tnl.3,p.K144T|ENST00000326470,p.K467T|NM_001161331,p.K467T|NM_001161330,p.K456T|ENST00000551165,p.K456T|uc010sxg.2,p.K467T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sxg.2	nonsynonymous SNV	exon13	c.A1400C	p.K467T	EGILDASKQRHNKLWRQQTDSSLQQ	EGILDASKQRHNTLWRQQTDSSLQQ	7.0	6.0	-	-	4245_12:109186588-109186588 T>G_EGILDASKQRHNTLWRQQTDSSLQQ
10:63850708-63850708 A>G	1.0	4245	COLON	-	-	-	-	ARID5B	NM_032199,p.K496E|uc001jlt.2,p.K496E|ENST00000279873,p.K496E|ENST00000309334,p.K253E|uc001jlu.2,p.K253E|NM_001244638,p.K253E	protein_coding	uc001jlu.2	nonsynonymous SNV	exon7	c.A757G	p.K253E	IPEPLPAADMKKKIEGYQEFSAKPL	IPEPLPAADMKKEIEGYQEFSAKPL	8.0	8.0	-	-	4245_10:63850708-63850708 A>G_IPEPLPAADMKKEIEGYQEFSAKPL
11:10622545-10622545 G>A	0.0	4245	COLON	-	-	-	-	MRVI1	ENST00000558540,p.T331M|ENST00000552103,p.T555M|uc009ygd.1,p.T331M|NM_130385,p.T646M|ENST00000547195,p.T555M|ENST00000534266,p.T331M|uc001mix.3,p.T331M|NM_001206880,p.T440M|uc010rcc.1,p.T646M|ENST00000527509,p.T555M|uc010rcb.1,p.T638M|uc010rcd.1,p.T440M|NM_001100167,p.T331M|NM_001098579,p.T638M|ENST00000545852,p.T331M|ENST00000531107,p.T638M|ENST00000423302,p.T646M|NM_001100163,p.T555M|ENST00000541483,p.T440M|NM_001206881,p.T331M|ENST00000424001,p.T331M|ENST00000526414,p.T389M|ENST00000436272,p.T619M|ENST00000421747,p.T637M|uc001miz.2,p.T555M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rcd.1	nonsynonymous SNV	exon14	c.C1319T	p.T440M	EVMMQYVENLKRTYEKDHAELMEFK	EVMMQYVENLKRMYEKDHAELMEFK	6.0	8.0	-	-	4245_11:10622545-10622545 G>A_EVMMQYVENLKRMYEKDHAELMEFK
17:36718116-36718116 T>A	0.0	4245	COLON	-	-	-	-	SRCIN1	uc002hqd.3,p.K428M|ENST00000264659,p.K428M|uc002hqf.1,p.K300M|ENST00000578925,p.K462M|NM_025248,p.K428M|uc002hqh.1,p.K488M|uc002hqe.2,p.K282M	retained_intron, protein_coding, processed_transcript	uc002hqh.1	nonsynonymous SNV	exon7	c.A1463T	p.K488M	DPFAYPGAGGLYKRGSVRSLSTYSA	DPFAYPGAGGLYMRGSVRSLSTYSA	6.0	4.0	-	-	4245_17:36718116-36718116 T>A_DPFAYPGAGGLYMRGSVRSLSTYSA
2:152537311-152537311 T>G	0.0	4245	COLON	-	-	-	-	NEB	NM_004543,p.K992T|ENST00000603639,p.K992T|ENST00000427231,p.K992T|uc021vrd.1,p.K992T|uc021vrb.1,p.K992T|uc021vrc.1,p.K992T|NM_001271208,p.K992T|ENST00000604864,p.K992T|uc010fnx.3,p.K992T|NM_001164508,p.K992T|ENST00000409198,p.K992T|ENST00000172853,p.K992T|ENST00000397345,p.K992T|uc031rpp.1,p.K992T|NM_001164507,p.K992T|uc002txu.3,p.K992T	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon30	c.A2975C	p.K992T	NEKKYRQHPDTLKFTSIEDAPITVQ	NEKKYRQHPDTLTFTSIEDAPITVQ	5.0	6.0	-	-	4245_2:152537311-152537311 T>G_NEKKYRQHPDTLTFTSIEDAPITVQ
20:20033115-20033115 G>T	0.0	4245	COLON	-	-	-	2	CRNKL1	uc002wrt.1,p.L107M|NM_016652,p.L119M|ENST00000377327,p.L107M|uc002wrs.3,p.L119M|ENST00000377340,p.L119M|NM_001278625,p.L107M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002wrt.1	nonsynonymous SNV	exon2	c.C319A	p.L107M	SVTAQARGQRSVLQVPLPVPRSCLF	SVTAQARGQRSVMQVPLPVPRSCLF	9.0	8.0	-	-	4245_20:20033115-20033115 G>T_SVTAQARGQRSVMQVPLPVPRSCLF
1:49242407-49242407 C>G	0.0	4245	COLON	-	-	-	-	BEND5	ENST00000371833,p.D33H|uc001crx.4,p.D33H|NM_024603,p.D33H	retained_intron, protein_coding, processed_transcript	uc001crx.4	nonsynonymous SNV	exon1	c.G97C	p.D33H	VRDFSPRSRLDFDNQKVYAVYRGPE	VRDFSPRSRLDFHNQKVYAVYRGPE	7.0	10.0	-	-	4245_1:49242407-49242407 C>G_VRDFSPRSRLDFHNQKVYAVYRGPE
5:176885561-176885561 T>G	0.0	4245	COLON	-	-	-	-	DBN1	uc010jkn.1,p.E375A|uc003mgy.2,p.E425A|ENST00000512501,p.E157A|ENST00000309007,p.E425A|NM_004395,p.E425A|uc003mgz.1,p.E408A|uc011dga.1,p.E157A|ENST00000393565,p.E471A|NM_080881,p.E427A|uc003mgx.2,p.E427A|ENST00000292385,p.E427A|ENST00000393563,p.E157A	retained_intron, protein_coding	uc011dga.1	nonsynonymous SNV	exon5	c.A470C	p.E157A	GPGSPAEDLMFMESAEQAVLAAPVE	GPGSPAEDLMFMASAEQAVLAAPVE	8.0	3.0	-	-	4245_5:176885561-176885561 T>G_GPGSPAEDLMFMASAEQAVLAAPVE
4:153249384-153249384 C>T	1.0	4245	COLON	-	-	ID=COSM117310,COSM117309,COSM22965,COSM1149856,COSM117308;OCCURENCE=24(large_intestine),1(biliary_tract),1(urinary_tract),2(small_intestine),9(endometrium),1(salivary_gland),2(ovary),34(haematopoietic_and_lymphoid_tissue),1(lung)	1	FBXW7	uc011cih.2,p.R289H|NM_033632,p.R465H|ENST00000281708,p.R465H|ENST00000603841,p.R465H|ENST00000296555,p.R347H|NM_018315,p.R385H|NM_001013415,p.R347H|uc003imt.3,p.R465H|uc011cii.2,p.R465H|uc003imq.3,p.R385H|uc003ims.3,p.R465H|ENST00000263981,p.R385H|ENST00000393956,p.R289H|ENST00000603548,p.R465H|uc003imr.3,p.R347H	protein_coding	uc011cii.2	nonsynonymous SNV	exon10	c.G1394A	p.R465H	CIHTLYGHTSTVRCMHLHEKRVVSG	CIHTLYGHTSTVHCMHLHEKRVVSG	8.0	8.0	-	-	4245_4:153249384-153249384 C>T_CIHTLYGHTSTVHCMHLHEKRVVSG
X:134427782-134427782 C>A	0.0	4245	COLON	-	-	-	-	ZNF75D	ENST00000370766,p.E95D|NM_007131,p.E95D|ENST00000370764,p.E95D|uc022ceq.1,p.E95D|NM_001185063,p.E95D|uc004eyo.3,p.E95D	protein_coding, processed_transcript	uc022ceq.1	nonsynonymous SNV	exon2	c.G285T	p.E95D	HSKEQILEMLVLEQFLSILPKETQN	HSKEQILEMLVLDQFLSILPKETQN	8.0	2.0	-	-	4245_X:134427782-134427782 C>A_HSKEQILEMLVLDQFLSILPKETQN
X:53613504-53613504 A>C	0.0	4245	COLON	-	-	-	-	HUWE1	ENST00000218328,p.I1590M|ENST00000262854,p.I1590M|ENST00000342160,p.I1590M|uc004dsn.4,p.I415M|NM_031407,p.I1590M|uc004dsp.4,p.I1590M	protein_coding, processed_transcript	uc004dsp.4	nonsynonymous SNV	exon39	c.T4770G	p.I1590M	QTPKWITPVLLLIDFYEKTAISSKR	QTPKWITPVLLLMDFYEKTAISSKR	9.0	7.0	-	-	4245_X:53613504-53613504 A>C_QTPKWITPVLLLMDFYEKTAISSKR
2:27884130-27884130 G>A	1.0	4245	COLON	-	-	-	-	SUPT7L	NM_001282729,p.P47L|ENST00000464789,p.P45L|uc002rli.1,p.P47L|uc002rlh.1,p.P47L|ENST00000406540,p.P45L|uc010ezh.1,p.P45L|NM_001282730,p.P45L|NM_001282731,p.P45L|uc002rlj.1,p.P45L|ENST00000405491,p.P45L|ENST00000337768,p.P47L|NM_014860,p.P47L	protein_coding	uc010ezh.1	nonsynonymous SNV	exon2	c.C134T	p.P45L	HDPPLHQPSANKPKPPTMLDIPSEP	HDPPLHQPSANKLKPPTMLDIPSEP	9.0	7.0	-	-	4245_2:27884130-27884130 G>A_HDPPLHQPSANKLKPPTMLDIPSEP
6:31778814-31778814 A>C	1.0	4245	COLON	-	-	-	-	HSPA1L	uc021yuz.1,p.F312L|NM_005527,p.F312L|ENST00000417199,p.F312L|ENST00000375654,p.F312L|uc010jte.3,p.F312L|uc003nxh.3,p.F312L	protein_coding	uc021yuz.1	nonsynonymous SNV	exon1	c.T936G	p.F312L	TRARFEELCADLFRGTLEPVEKALR	TRARFEELCADLLRGTLEPVEKALR	6.0	9.0	-	-	4245_6:31778814-31778814 A>C_TRARFEELCADLLRGTLEPVEKALR
3:4358582-4358582 A>C	1.0	4245	COLON	-	-	-	-	SETMAR	uc011asr.2,p.K313N|uc011asp.2,p.K569N|NM_006515,p.K569N|uc003bpy.4,p.K291N|ENST00000425863,p.K430N|ENST00000358065,p.K569N|NM_001243723,p.K430N|uc010hbx.3,p.K364N|uc011asq.2,p.K430N	protein_coding, processed_transcript, nonsense_mediated_decay	uc011asr.2	nonsynonymous SNV	exon4	c.A939C	p.K313N	EKYAQEIDEMNQKLQRLQLALVNRK	EKYAQEIDEMNQNLQRLQLALVNRK	8.0	5.0	-	-	4245_3:4358582-4358582 A>C_EKYAQEIDEMNQNLQRLQLALVNRK
3:197544140-197544140 A>C	0.0	4245	COLON	-	-	-	-	LRCH3	uc011bum.1,p.E167D|ENST00000334859,p.E167D|ENST00000425562,p.E167D|NM_032773,p.E167D|ENST00000438796,p.E167D|uc011bul.1,p.E167D|ENST00000414675,p.E167D|uc003fyj.1,p.E167D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bum.1	nonsynonymous SNV	exon3	c.A501C	p.E167D	LIASNNKLVSLPEEIGHLRHLMELD	LIASNNKLVSLPDEIGHLRHLMELD	8.0	2.0	-	-	4245_3:197544140-197544140 A>C_LIASNNKLVSLPDEIGHLRHLMELD
22:36688247-36688247 C>T	1.0	4245	COLON	-	-	-	1	MYH9	ENST00000216181,p.V1377M|NM_002473,p.V1377M|uc003apg.3,p.V1377M	retained_intron, protein_coding, processed_transcript	uc003apg.3	nonsynonymous SNV	exon31	c.G4129A	p.V1377M	QVADMKKKMEDSVGCLETAEEVKRK	QVADMKKKMEDSMGCLETAEEVKRK	10.0	3.0	-	-	4245_22:36688247-36688247 C>T_QVADMKKKMEDSMGCLETAEEVKRK
17:73101998-73101998 G>T	1.0	4245	COLON	-	-	-	-	SLC16A5	uc002jmr.4,p.R463L|ENST00000450736,p.R463L|uc002jmu.4,p.R463L|NM_004695,p.R463L|ENST00000580123,p.R463L|uc002jmt.4,p.R463L|ENST00000329783,p.R463L|NM_001271765,p.R463L	protein_coding, processed_transcript	uc002jmu.4	nonsynonymous SNV	exon6	c.G1388T	p.R463L	SPEIMCQSSRQPRPAGVNKHLWGCP	SPEIMCQSSRQPLPAGVNKHLWGCP	8.0	7.0	-	-	4245_17:73101998-73101998 G>T_SPEIMCQSSRQPLPAGVNKHLWGCP
11:6977625-6977625 C>T	1.0	4245	COLON	-	-	-	-	ZNF215	uc001mey.3,p.R473W|ENST00000414517,p.R473W|NM_013250,p.R473W|uc010raw.3,p.R247W|ENST00000278319,p.R473W|uc010rax.2,p.R235W	protein_coding, processed_transcript	uc010rax.2	nonsynonymous SNV	exon5	c.C703T	p.R235W	FYQCVNCGKSFNRSSSLIRHQMIHT	FYQCVNCGKSFNWSSSLIRHQMIHT	5.0	8.0	-	-	4245_11:6977625-6977625 C>T_FYQCVNCGKSFNWSSSLIRHQMIHT
8:146068129-146068129 T>G	1.0	4245	COLON	-	-	-	-	ZNF7	ENST00000446747,p.V557G|NM_001282795,p.V557G|uc003zek.4,p.V450G|ENST00000528372,p.V546G|uc003zeg.4,p.V546G|NM_001282797,p.V450G|ENST00000544249,p.V450G|uc011lln.2,p.V450G|uc010mge.3,p.V557G|ENST00000325241,p.V546G|NM_003416,p.V546G	retained_intron, protein_coding, processed_transcript	uc011lln.2	nonsynonymous SNV	exon4	c.T1349G	p.V450G	FSMSTQLTIHQRVHTGERPYKCNEC	FSMSTQLTIHQRGHTGERPYKCNEC	9.0	3.0	-	-	4245_8:146068129-146068129 T>G_FSMSTQLTIHQRGHTGERPYKCNEC
3:47035960-47035960 C>T	0.0	4245	COLON	-	-	-	-	NBEAL2	uc003cqq.1,p.R371C|NM_015175,p.R405C|ENST00000450053,p.R405C|ENST00000292309,p.R405C|uc003cqp.3,p.R405C	retained_intron, protein_coding, nonsense_mediated_decay	uc003cqq.1	nonsynonymous SNV	exon11	c.C1111T	p.R371C	SDSPSAKEVFKERIGYPHLQEVLQS	SDSPSAKEVFKECIGYPHLQEVLQS	10.0	9.0	CD8	-	4245_3:47035960-47035960 C>T_SDSPSAKEVFKECIGYPHLQEVLQS
19:21720498-21720498 G>T	1.0	4245	COLON	-	-	-	2	ZNF429	NM_001001415,p.R548L|ENST00000358491,p.R548L|uc002nqd.1,p.R548L	protein_coding, processed_transcript	uc002nqd.1	nonsynonymous SNV	exon4	c.G1643T	p.R548L	PYKCEECGKAFNRSSRLTQHKKIHT	PYKCEECGKAFNLSSRLTQHKKIHT	7.0	4.0	-	-	4245_19:21720498-21720498 G>T_PYKCEECGKAFNLSSRLTQHKKIHT
1:228469796-228469796 G>A	0.0	4245	COLON	-	-	-	-	OBSCN	uc001hsq.2,p.R3216H|uc001hsp.2,p.R575H|uc001hsn.4,p.R2787H|NM_052843,p.R2787H|ENST00000422127,p.R2787H|ENST00000359599,p.R1634H|ENST00000366706,p.R635H|NM_001098623,p.R2787H|NM_001271223,p.R3216H|ENST00000284548,p.R2787H|ENST00000570156,p.R3216H|uc009xez.2,p.R2787H	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon31	c.G8360A	p.R2787H	KTVGSSSRFQATRQGRKYILVVREA	KTVGSSSRFQATHQGRKYILVVREA	6.0	10.0	-	-	4245_1:228469796-228469796 G>A_KTVGSSSRFQATHQGRKYILVVREA
X:152915701-152915701 C>A	1.0	4245	COLON	-	-	ID=COSM367837;OCCURENCE=1(lung)	-	DUSP9	uc004fhx.4,p.P366T|ENST00000370167,p.P366T|uc004fhy.4,p.P366T|ENST00000342782,p.P366T|NM_001395,p.P366T	protein_coding, processed_transcript	uc004fhy.4	nonsynonymous SNV	exon4	c.C1096A	p.P366T	QGSGGQASAASNPPSFFTTPTSDGA	QGSGGQASAASNTPSFFTTPTSDGA	1.0	10.0	unscreened	-	4245_X:152915701-152915701 C>A_QGSGGQASAASNTPSFFTTPTSDGA
19:23836507-23836507 C>A	1.0	4245	COLON	-	-	-	-	ZNF675	ENST00000359788,p.A410S|NM_138330,p.A410S|uc002nri.3,p.A410S	retained_intron, protein_coding, nonsense_mediated_decay	uc002nri.3	nonsynonymous SNV	exon4	c.G1228T	p.A410S	CKECGKAFKHSSALTTHKRIHTGEK	CKECGKAFKHSSSLTTHKRIHTGEK	7.0	3.0	unscreened	-	4245_19:23836507-23836507 C>A_CKECGKAFKHSSSLTTHKRIHTGEK
11:73809133-73809133 T>C	0.0	4245	COLON	-	-	-	-	C2CD3	NM_015531,p.N967S|NM_001286577,p.N967S|uc001ouu.2,p.N967S|ENST00000313663,p.N967S|ENST00000334126,p.N967S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ouu.2	nonsynonymous SNV	exon16	c.A2900G	p.N967S	SSNQIMALQRLKNEEGTLPPFSPRP	SSNQIMALQRLKSEEGTLPPFSPRP	7.0	10.0	-	-	4245_11:73809133-73809133 T>C_SSNQIMALQRLKSEEGTLPPFSPRP
6:18459977-18459977 T>G	0.0	4245	COLON	-	-	-	-	RNF144B	ENST00000429054,p.L137V|NM_182757,p.L226V|uc003ncs.3,p.L226V|ENST00000259939,p.L226V	protein_coding, processed_transcript	uc003ncs.3	nonsynonymous SNV	exon6	c.T676G	p.L226V	CKHTFCWYCLQNLDNDIFLRHYDKG	CKHTFCWYCLQNVDNDIFLRHYDKG	7.0	5.0	-	-	4245_6:18459977-18459977 T>G_CKHTFCWYCLQNVDNDIFLRHYDKG
10:49998855-49998855 T>G	0.0	4245	COLON	-	-	-	-	WDFY4	NM_020945,p.L1384V|ENST00000325239,p.L1384V|uc001jha.4,p.L1384V	protein_coding, processed_transcript	uc001jha.4	nonsynonymous SNV	exon23	c.T4150G	p.L1384V	IGGPAILLGLISLATDDHTMYAAVK	IGGPAILLGLISVATDDHTMYAAVK	7.0	1.0	-	-	4245_10:49998855-49998855 T>G_IGGPAILLGLISVATDDHTMYAAVK
10:75548934-75548934 A>G	0.0	4245	COLON	-	-	-	-	ZSWIM8	ENST00000433366,p.D148G|uc009xrl.3,p.D148G|uc001jvj.3,p.D148G|ENST00000604729,p.D148G|ENST00000603114,p.D148G|ENST00000398706,p.D148G|uc001jve.3,p.D148G|NM_001242488,p.D148G|NM_015037,p.D148G|NM_001242487,p.D148G|ENST00000605216,p.D148G|uc001jvf.3,p.D148G|ENST00000604524,p.D148G	protein_coding, processed_transcript, nonsense_mediated_decay	uc009xrl.3	nonsynonymous SNV	exon3	c.A443G	p.D148G	RGDQLFRMRAVKDPLQIGFHLSATV	RGDQLFRMRAVKGPLQIGFHLSATV	9.0	5.0	-	-	4245_10:75548934-75548934 A>G_RGDQLFRMRAVKGPLQIGFHLSATV
9:133352268-133352268 C>T	1.0	4245	COLON	-	-	-	-	ASS1	ENST00000372393,p.P203L|uc004bzm.3,p.P203L|ENST00000372394,p.P203L|NM_054012,p.P203L|uc010mza.3,p.P279L|NM_000050,p.P203L|ENST00000352480,p.P203L|uc004bzn.3,p.P203L	protein_coding, processed_transcript	uc010mza.3	nonsynonymous SNV	exon10	c.C836T	p.P279L	EAGILENPKNQAPPGLYTKTQDPAK	EAGILENPKNQALPGLYTKTQDPAK	10.0	2.0	-	-	4245_9:133352268-133352268 C>T_EAGILENPKNQALPGLYTKTQDPAK
19:44681462-44681462 A>T	1.0	4245	COLON	-	-	-	-	ZNF226	uc002oyq.3,p.S566C|ENST00000337433,p.S683C|uc002oyr.3,p.S566C|uc002oys.3,p.S683C|uc002oyt.3,p.S683C|NM_001032373,p.S683C|uc002oyp.3,p.S683C|ENST00000454662,p.S683C|ENST00000590089,p.S683C|NM_001032372,p.S683C	retained_intron, protein_coding	uc002oyt.3	nonsynonymous SNV	exon7	c.A2047T	p.S683C	YKCDECGKGFKWSLNLDMHQRVHTG	YKCDECGKGFKWCLNLDMHQRVHTG	8.0	7.0	-	-	4245_19:44681462-44681462 A>T_YKCDECGKGFKWCLNLDMHQRVHTG
3:51992304-51992304 C>A	1.0	4245	COLON	-	-	-	-	PCBP4	NM_020418,p.A286S|uc003dcf.2,p.A329S|uc003dcj.2,p.A329S|uc003dcc.2,p.A350S|ENST00000461554,p.A329S|ENST00000322099,p.A329S|ENST00000395014,p.A350S|NM_001174100,p.A329S|uc003dck.2,p.A286S|NM_033010,p.A329S|ENST00000355852,p.A329S|ENST00000428823,p.A286S|ENST00000484633,p.A286S|ENST00000395013,p.A169S|uc003dch.2,p.A329S|NM_033008,p.A329S|uc003dcb.2,p.A295S|uc003dcg.2,p.A295S|uc003dci.2,p.A169S	retained_intron, protein_coding, nonsense_mediated_decay	uc003dck.2	nonsynonymous SNV	exon13	c.G856T	p.A286S	GGTPSSAPADLPAPFSPPLTALPTA	GGTPSSAPADLPSPFSPPLTALPTA	9.0	4.0	-	-	4245_3:51992304-51992304 C>A_GGTPSSAPADLPSPFSPPLTALPTA
19:11304464-11304464 A>C	0.0	4245	COLON	-	-	-	-	KANK2	uc021upe.1,p.S98A|ENST00000586659,p.S98A|ENST00000590685,p.S98A|uc002mqo.4,p.S98A|NM_001136191,p.S98A|ENST00000432929,p.S98A|uc002mqm.3,p.S98A|ENST00000589894,p.S98A|uc002mqq.3,p.S98A|ENST00000355150,p.S98A|ENST00000589359,p.S98A|NM_015493,p.S98A	retained_intron, protein_coding, processed_transcript	uc021upe.1	nonsynonymous SNV	exon3	c.T292G	p.S98A	SLCSNASGDSRHSAYSYCGRGFYPQ	SLCSNASGDSRHAAYSYCGRGFYPQ	9.0	1.0	-	-	4245_19:11304464-11304464 A>C_SLCSNASGDSRHAAYSYCGRGFYPQ
5:140590604-140590604 G>A	0.0	4245	COLON	-	-	-	-	PCDHB12	NM_018932,p.V709M|uc011dak.2,p.V372M|uc003liz.3,p.V709M|ENST00000239450,p.V709M|ENST00000541609,p.V372M	protein_coding	uc011dak.2	nonsynonymous SNV	exon2	c.G1114A	p.V372M	VSSLFLFSVLLFVAVRLCRRSRAAP	VSSLFLFSVLLFMAVRLCRRSRAAP	5.0	10.0	-	-	4245_5:140590604-140590604 G>A_VSSLFLFSVLLFMAVRLCRRSRAAP
22:38151109-38151109 C>T	1.0	4245	COLON	-	-	-	-	TRIOBP	NM_001039141,p.A1830V|uc003atw.3,p.A117V|NM_007032,p.A117V|ENST00000417857,p.A46V|uc003atu.3,p.A1658V|NM_138632,p.A117V|ENST00000452519,p.A46V|ENST00000406386,p.A1830V|uc003atv.3,p.A117V|uc003atr.3,p.A1830V|ENST00000407319,p.A117V|ENST00000418339,p.A76V|ENST00000403663,p.A117V	retained_intron, protein_coding, nonsense_mediated_decay	uc003atw.3	nonsynonymous SNV	exon4	c.C350T	p.A117V	SLKYYRDSTAEEADELDGEIDLRSC	SLKYYRDSTAEEVDELDGEIDLRSC	8.0	4.0	-	-	4245_22:38151109-38151109 C>T_SLKYYRDSTAEEVDELDGEIDLRSC
20:826205-826205 C>T	1.0	4245	COLON	-	-	-	-	FAM110A	NM_207121,p.S253L|uc002wef.1,p.S253L|ENST00000246100,p.S253L|NM_031424,p.S253L|ENST00000304189,p.S253L|ENST00000381941,p.S253L|NM_001289146,p.S253L|ENST00000541082,p.S253L|NM_001042353,p.S253L|ENST00000381939,p.S253L|NM_001289145,p.S253L|NM_001289147,p.S253L|uc002weg.1,p.S253L|uc002weh.1,p.S253L	protein_coding	uc002weh.1	nonsynonymous SNV	exon1	c.C758T	p.S253L	PGSSEGGCSRRSSVTVEERARERVP	PGSSEGGCSRRSLVTVEERARERVP	7.0	10.0	-	-	4245_20:826205-826205 C>T_PGSSEGGCSRRSLVTVEERARERVP
17:30348680-30348680 T>G	0.0	4245	COLON	-	-	-	-	LRRC37B	uc031qzt.1,p.L90R|ENST00000327564,p.L199R|ENST00000341671,p.L172R|ENST00000394713,p.L172R|uc002hgu.3,p.L172R|uc010csu.3,p.L172R|uc010wbx.2,p.L90R|ENST00000583342,p.L154R|ENST00000578674,p.L184R|uc031qzs.1,p.L90R|ENST00000543378,p.L90R|ENST00000584368,p.L184R|NM_052888,p.L172R|uc031qzu.1,p.L90R|ENST00000579206,p.L90R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qzu.1	nonsynonymous SNV	exon1	c.T269G	p.L90R	LDRAAGHQADEILVPLDSKVSRPTK	LDRAAGHQADEIRVPLDSKVSRPTK	8.0	2.0	-	-	4245_17:30348680-30348680 T>G_LDRAAGHQADEIRVPLDSKVSRPTK
3:36905869-36905869 T>G	0.0	4245	COLON	-	-	-	-	TRANK1	ENST00000429976,p.K350T|NM_014831,p.K350T|uc003cgj.3,p.K350T	protein_coding, processed_transcript	uc003cgj.3	nonsynonymous SNV	exon9	c.A1049C	p.K350T	VKYMNSGNRLLHKNFLKQEVVQRFL	VKYMNSGNRLLHTNFLKQEVVQRFL	7.0	5.0	-	-	4245_3:36905869-36905869 T>G_VKYMNSGNRLLHTNFLKQEVVQRFL
1:156517866-156517866 T>C	0.0	4245	COLON	-	-	-	-	IQGAP3	ENST00000491900,p.Q725R|uc001fpf.3,p.Q768R|NM_178229,p.Q768R|ENST00000361170,p.Q768R	protein_coding, processed_transcript, nonsense_mediated_decay	uc001fpf.3	nonsynonymous SNV	exon19	c.A2303G	p.Q768R	FLRTWLPAVIKIQAHWRGYRQRKIY	FLRTWLPAVIKIRAHWRGYRQRKIY	6.0	9.0	-	-	4245_1:156517866-156517866 T>C_FLRTWLPAVIKIRAHWRGYRQRKIY
19:14910585-14910585 G>A	0.0	4245	COLON	-	-	ID=COSM1390989;OCCURENCE=1(large_intestine)	-	OR7C1	NM_198944,p.R122C|uc010xnz.2,p.R122C|ENST00000248073,p.R122C	protein_coding	uc010xnz.2	nonsynonymous SNV	exon1	c.C364T	p.R122C	LDNLLLTVMAYDRFVAVCHPLHYTV	LDNLLLTVMAYDCFVAVCHPLHYTV	1.0	9.0	unscreened	-	4245_19:14910585-14910585 G>A_LDNLLLTVMAYDCFVAVCHPLHYTV
3:41275240-41275240 G>A	1.0	4245	COLON	-	-	ID=COSM1582585;OCCURENCE=1(stomach),1(large_intestine)	1	CTNNB1	uc011azf.1,p.R462H|ENST00000396183,p.R469H|uc003ckr.2,p.R469H|uc011azg.1,p.R397H|NM_001098209,p.R469H|ENST00000396185,p.R469H|ENST00000349496,p.R469H|ENST00000405570,p.R469H|uc003cks.3,p.R72H|uc003ckq.2,p.R469H|ENST00000453024,p.R462H|NM_001904,p.R469H|uc003ckp.2,p.R469H|uc010hia.1,p.R469H|NM_001098210,p.R469H	retained_intron, protein_coding, processed_transcript	uc011azg.1	nonsynonymous SNV	exon9	c.G1190A	p.R397H	REDITEPAICALRHLTSRHQEAEMA	REDITEPAICALHHLTSRHQEAEMA	10.0	8.0	-	-	4245_3:41275240-41275240 G>A_REDITEPAICALHHLTSRHQEAEMA
19:49132422-49132422 C>G	0.0	4245	COLON	-	-	-	-	SPHK2	NM_001243876,p.L247V|NM_001204159,p.L453V|NM_001204158,p.L394V|NM_001204160,p.L417V|ENST00000600537,p.L394V|uc002pjw.3,p.L515V|uc002pjt.3,p.L247V|ENST00000599748,p.L417V|uc010xzt.2,p.L394V|NM_020126,p.L453V|uc002pjr.3,p.L453V|ENST00000598088,p.L453V|ENST00000340932,p.L415V|ENST00000245222,p.L453V|uc002pjv.3,p.L417V|ENST00000443164,p.L515V|ENST00000599029,p.L417V|uc002pjs.3,p.L453V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay	uc010xzt.2	nonsynonymous SNV	exon7	c.C1180G	p.L394V	LPILSLNGGGPELAGDWGGAGDAPL	LPILSLNGGGPEVAGDWGGAGDAPL	7.0	6.0	-	-	4245_19:49132422-49132422 C>G_LPILSLNGGGPEVAGDWGGAGDAPL
21:22658706-22658706 A>T	0.0	4245	COLON	-	-	-	-	NCAM2	NM_004540,p.N152I|uc002yld.2,p.N152I|uc011acc.2,p.N177I|ENST00000535285,p.N177I|ENST00000400546,p.N152I	protein_coding, processed_transcript	uc011acc.2	nonsynonymous SNV	exon5	c.A530T	p.N177I	SSPAPAVSWLYHNEEVTTISDNRFA	SSPAPAVSWLYHIEEVTTISDNRFA	5.0	7.0	-	-	4245_21:22658706-22658706 A>T_SSPAPAVSWLYHIEEVTTISDNRFA
3:25654024-25654024 C>G	1.0	4245	COLON	-	-	-	-	TOP2B	uc011awm.2,p.K108N|ENST00000435706,p.K1251N|ENST00000540199,p.K108N|uc003cdj.3,p.K1251N|NM_001068,p.K1251N|ENST00000264331,p.K1256N|ENST00000542520,p.K108N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011awm.2	nonsynonymous SNV	exon5	c.G324C	p.K108N	PEITAMKADASKKLLKKKKGDLDTA	PEITAMKADASKNLLKKKKGDLDTA	10.0	7.0	-	-	4245_3:25654024-25654024 C>G_PEITAMKADASKNLLKKKKGDLDTA
20:57428917-57428917 C>T	0.0	4245	COLON	-	-	ID=COSM2764833;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	1	GNAS	NM_001077490,p.P137L|ENST00000306120,p.P136L	retained_intron, protein_coding, processed_transcript	NM_001077490	nonsynonymous SNV	exon1	c.C410T	p.P137L	EAQVLQGSPELLPRSPKPSGLQRLA	EAQVLQGSPELLLRSPKPSGLQRLA	10.0	6.0	-	-	4245_20:57428917-57428917 C>T_EAQVLQGSPELLLRSPKPSGLQRLA
15:41341606-41341606 G>A	0.0	4245	COLON	-	-	-	-	INO80	NM_017553,p.P819S|ENST00000558357,p.P819S|ENST00000401393,p.P819S|ENST00000361937,p.P819S|uc001zni.3,p.P819S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zni.3	nonsynonymous SNV	exon21	c.C2455T	p.P819S	NLVMQFRKVCNHPELFERQETWSPF	NLVMQFRKVCNHSELFERQETWSPF	7.0	1.0	-	-	4245_15:41341606-41341606 G>A_NLVMQFRKVCNHSELFERQETWSPF
16:55862840-55862840 T>A	0.0	4245	COLON	-	-	-	-	CES1	ENST00000422046,p.K32N|NM_001266,p.K32N|NM_001025194,p.K32N|uc002eim.3,p.K32N|uc002eil.3,p.K33N|uc002ein.3,p.K32N|ENST00000360526,p.K33N|NM_001025195,p.K33N|ENST00000361503,p.K32N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ein.3	nonsynonymous SNV	exon2	c.A96T	p.K32N	PSSPPVVDTVHGKVLGKFVSLEGFA	PSSPPVVDTVHGNVLGKFVSLEGFA	8.0	8.0	-	-	4245_16:55862840-55862840 T>A_PSSPPVVDTVHGNVLGKFVSLEGFA
17:54535320-54535320 G>A	0.0	4245	COLON	-	-	-	-	ANKFN1	ENST00000318698,p.A516T|uc002iun.1,p.A516T|ENST00000566473,p.A516T|NM_153228,p.A516T	retained_intron, protein_coding, processed_transcript	uc002iun.1	nonsynonymous SNV	exon13	c.G1546A	p.A516T	SSTVLQTRQKMLAATAQLQNLLGTH	SSTVLQTRQKMLTATAQLQNLLGTH	4.0	10.0	-	-	4245_17:54535320-54535320 G>A_SSTVLQTRQKMLTATAQLQNLLGTH
16:29974909-29974909 A>T	1.0	4245	COLON	-	-	-	-	TMEM219	ENST00000414689,p.K118N|uc010bzk.1,p.K118N|uc002duy.2,p.K118N|ENST00000569445,p.K63N|ENST00000561899,p.K118N|NM_194280,p.K118N|ENST00000279396,p.K118N|ENST00000602948,p.K118N|ENST00000575829,p.K118N|NM_001083613,p.K118N|uc002duw.2,p.K118N|ENST00000566848,p.K118N	protein_coding, nonsense_mediated_decay	uc010bzk.1	nonsynonymous SNV	exon3	c.A354T	p.K118N	FQATVLGSQMGLKGSSAGQLVLITA	FQATVLGSQMGLNGSSAGQLVLITA	10.0	1.0	-	-	4245_16:29974909-29974909 A>T_FQATVLGSQMGLNGSSAGQLVLITA
17:17797122-17797122 ->A	0.0	4245	COLON	-	-	-	-	TOM1L2	uc010vxa.2,p.V73fs|ENST00000540946,p.V73fs|NM_001288788,p.V73fs	retained_intron, protein_coding, processed_transcript	uc010vxa.2	frameshift insertion	exon4	c.218dupT	p.V73fs	NRNYREVMLALTVLETCVKNCGHRF	NRNYREVMLALTVAGDMCEELWPPLPHPCGQPRFHRQCSGQNYISQEQPSHHCTGQSACSDPDCQAAE	7.0	6.0	unscreened	-	4245_17:17797122-17797122 ->A_NRNYREVMLALTVAGDMCEELWPPLPHPCGQPRFHRQCSGQNYISQEQPSHHCTGQSACSDPDCQAAE
17:17797122-17797122 ->A	0.0	4245	COLON	-	-	-	-	TOM1L2	ENST00000318094,p.V73fs|NM_001288787,p.V73fs|uc010cpr.3,p.V73fs|ENST00000395739,p.V73fs	retained_intron, protein_coding, processed_transcript	uc010cpr.3	frameshift insertion	exon4	c.218dupT	p.V73fs	NRNYREVMLALTVLETCVKNCGHRF	NRNYREVMLALTVAGDMCEELWPPLPHPCGQPRFHRQCSGQNYISQEQPSHHCTGQSACSDPECP	7.0	6.0	unscreened	-	4245_17:17797122-17797122 ->A_NRNYREVMLALTVAGDMCEELWPPLPHPCGQPRFHRQCSGQNYISQEQPSHHCTGQSACSDPECP
17:17797122-17797122 ->A	0.0	4245	COLON	-	-	-	-	TOM1L2	uc010vwy.2,p.V73fs|ENST00000535933,p.V73fs|ENST00000379504,p.V73fs|NM_001288786,p.V73fs|NM_001082968,p.V73fs|uc002grz.4,p.V73fs	retained_intron, protein_coding, processed_transcript	uc010vwy.2	frameshift insertion	exon4	c.218dupT	p.V73fs	NRNYREVMLALTVLETCVKNCGHRF	NRNYREVMLALTVAGDMCEELWPPLPHPCGQPRFHRQCSGQNYISQEQPSHHCTGQSACSDPGMG	7.0	6.0	-	-	4245_17:17797122-17797122 ->A_NRNYREVMLALTVAGDMCEELWPPLPHPCGQPRFHRQCSGQNYISQEQPSHHCTGQSACSDPGMG
5:112164603-112164603 ->A	1.0	4245	COLON	-	-	-	1	APC	uc003kpz.4,p.S559fs|uc011cvt.2,p.S541fs|NM_001127511,p.S541fs|ENST00000507379,p.S541fs|NM_000038,p.S559fs|ENST00000257430,p.S559fs|NM_001127510,p.S559fs|uc003kpy.4,p.S559fs|uc010jbz.3,p.S276fs|ENST00000508376,p.S559fs|ENST00000457016,p.S559fs|ENST00000512211,p.S559fs|ENST00000504915,p.S122fs	 nonsense_mediated_decay,retained_intron, protein_coding, processed_transcript	uc011cvt.2	frameshift insertion	exon12	c.1624dupA	p.S541fs	VLRNLSWRADVNSKKTLREVGSVKA	VLRNLSWRADVNSKKDVARSWKCESIDGMCFRS	6.0	9.0	-	-	4245_5:112164603-112164603 ->A_VLRNLSWRADVNSKKDVARSWKCESIDGMCFRS
11:113264247-113264247 A>C	1.0	4245	COLON	-	-	-	-	ANKK1	ENST00000303941,p.K77T|uc001pny.3,p.K77T|NM_178510,p.K77T	protein_coding, nonsense_mediated_decay	uc001pny.3	nonsynonymous SNV	exon2	c.A230C	p.K77T	VNYLIEEAAKMKKIKFQHIVSIYGV	VNYLIEEAAKMKTIKFQHIVSIYGV	3.0	2.0	-	-	4245_11:113264247-113264247 A>C_VNYLIEEAAKMKTIKFQHIVSIYGV
11:66625511-66625511 G>A	1.0	4245	COLON	-	-	ID=COSM1470564;OCCURENCE=1(prostate)	-	LRFN4	NM_024036,p.R99H|ENST00000309602,p.R99H|uc001ojq.1,p.R99H|uc001ojr.3,p.R99H|ENST00000393952,p.R99H	protein_coding, processed_transcript	uc001ojr.3	nonsynonymous SNV	exon1	c.G296A	p.R99H	IGARAFGDLESLRSLHLDGNRLVEL	IGARAFGDLESLHSLHLDGNRLVEL	9.0	9.0	-	-	4245_11:66625511-66625511 G>A_IGARAFGDLESLHSLHLDGNRLVEL
11:59282471-59282471 C>A	0.0	4245	COLON	-	-	-	-	OR4D9	ENST00000329328,p.T29N|NM_001004711,p.T29N|uc010rkv.2,p.T29N	protein_coding	uc010rkv.2	nonsynonymous SNV	exon1	c.C86A	p.T29N	ITQSRELSQVLFTFLFLVYMTTLMG	ITQSRELSQVLFNFLFLVYMTTLMG	1.0	2.0	unscreened	-	4245_11:59282471-59282471 C>A_ITQSRELSQVLFNFLFLVYMTTLMG
20:60908634-60908634 C>T	0.0	4245	COLON	-	-	-	-	LAMA5	uc021wfw.1,p.E1003K|uc002ycq.3,p.E1003K|ENST00000252999,p.E1003K|NM_005560,p.E1003K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wfw.1	nonsynonymous SNV	exon24	c.G3007A	p.E1003K	LNPGTWALRVEAEGVLLDYVVLLPS	LNPGTWALRVEAKGVLLDYVVLLPS	8.0	7.0	-	-	4245_20:60908634-60908634 C>T_LNPGTWALRVEAKGVLLDYVVLLPS
X:150780157-150780157 A>G	0.0	4245	COLON	-	-	-	-	PASD1	uc004fev.4,p.T47A|NM_173493,p.T47A|ENST00000370357,p.T47A	retained_intron, protein_coding	uc004fev.4	nonsynonymous SNV	exon4	c.A139G	p.T47A	QVTLQLLDGFMITLSTDGVIICVAE	QVTLQLLDGFMIALSTDGVIICVAE	1.0	8.0	unscreened	-	4245_X:150780157-150780157 A>G_QVTLQLLDGFMIALSTDGVIICVAE
X:138684594-138684594 T>A	0.0	4245	COLON	-	-	-	-	MCF2	ENST00000370576,p.R603W|ENST00000519895,p.R679W|ENST00000370578,p.R748W|uc004fav.3,p.R619W|NM_001171876,p.R679W|NM_001171879,p.R619W|ENST00000414978,p.R663W|ENST00000520602,p.R663W|NM_005369,p.R603W|NM_001171877,p.R564W|uc010nsh.2,p.R603W|NM_001171878,p.R603W|ENST00000338585,p.R619W|ENST00000536274,p.R564W|NM_001099855,p.R663W|uc004faw.2,p.R663W|uc011mwm.2,p.R564W|uc011mwo.1,p.R679W|uc004fau.3,p.R603W|ENST00000446225,p.R206W|ENST00000370573,p.R603W|uc011mwl.2,p.R580W|uc011mwn.1,p.R748W	protein_coding, processed_transcript	uc011mwo.1	nonsynonymous SNV	exon20	c.A2035T	p.R679W	YCQNKPRSETIWRKYSECAFFQECQ	YCQNKPRSETIWWKYSECAFFQECQ	2.0	10.0	-	-	4245_X:138684594-138684594 T>A_YCQNKPRSETIWWKYSECAFFQECQ
2:168106856-168106856 G>T	0.0	4245	COLON	-	-	-	-	XIRP2	ENST00000409195,p.G2985V|uc002udy.3,p.G2810V|NM_152381,p.G2985V|ENST00000295237,p.G2985V|uc010fpq.3,p.G2763V|ENST00000409273,p.G2763V|NM_001199144,p.G2763V|uc002udx.3,p.G2985V	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.G8288T	p.G2763V	LKTFQTLLNTIPGWLISEDKREYAV	LKTFQTLLNTIPVWLISEDKREYAV	2.0	9.0	unscreened	-	4245_2:168106856-168106856 G>T_LKTFQTLLNTIPVWLISEDKREYAV
9:6013932-6013932 T>G	0.0	4245	COLON	-	-	-	-	RANBP6	uc003zjr.3,p.K559T|ENST00000259569,p.K559T|uc011lmf.2,p.K207T|NM_012416,p.K559T|NM_001243202,p.K207T	protein_coding, processed_transcript	uc011lmf.2	nonsynonymous SNV	exon2	c.A620C	p.K207T	KHIVELAVQKELKLLRGKTIECISH	KHIVELAVQKELTLLRGKTIECISH	7.0	2.0	-	-	4245_9:6013932-6013932 T>G_KHIVELAVQKELTLLRGKTIECISH
11:71948564-71948564 G>T	1.0	4245	COLON	-	-	-	-	INPPL1	uc001osg.3,p.K850N|ENST00000298229,p.K1092N|ENST00000541756,p.K850N|NM_001567,p.K1092N|ENST00000538751,p.K850N|uc001osf.3,p.K1092N|ENST00000541752,p.K105N	retained_intron, protein_coding, nonsense_mediated_decay	uc001osg.3	nonsynonymous SNV	exon25	c.G2550T	p.K850N	RGGAEARGPPPPKAHPRPPLPPGPS	RGGAEARGPPPPNAHPRPPLPPGPS	8.0	2.0	-	-	4245_11:71948564-71948564 G>T_RGGAEARGPPPPNAHPRPPLPPGPS
6:13185059-13185059 G>C	0.0	4245	COLON	-	-	-	-	PHACTR1	uc011dir.2,p.E231D|ENST00000379345,p.E86D|ENST00000434977,p.E117D	protein_coding, processed_transcript	uc011dir.2	nonsynonymous SNV	exon8	c.G693C	p.E231D	DGPVSEESPSASESGVLLSQDPSAK	DGPVSEESPSASDSGVLLSQDPSAK	6.0	5.0	-	-	4245_6:13185059-13185059 G>C_DGPVSEESPSASDSGVLLSQDPSAK
5:167673790-167673790 G>A	0.0	4245	COLON	-	-	ID=COSM3338269,COSM3697121,COSM3338268,COSM3338267;OCCURENCE=1(large_intestine)	-	TENM2	ENST00000403607,p.R1773H|NM_001122679,p.R1940H|ENST00000518659,p.R1949H|uc010jje.3,p.R1204H|uc003lzr.5,p.R1710H|uc003lzt.4,p.R1313H|ENST00000545108,p.R1948H|ENST00000519204,p.R1828H|uc010jjd.3,p.R1940H|ENST00000520394,p.R1710H	retained_intron, protein_coding, processed_transcript	uc010jje.3	nonsynonymous SNV	exon16	c.G3611A	p.R1204H	LDKSMVLLLQSQRQYIFEYDSSDRL	LDKSMVLLLQSQHQYIFEYDSSDRL	2.0	6.0	-	-	4245_5:167673790-167673790 G>A_LDKSMVLLLQSQHQYIFEYDSSDRL
12:25398285-25398285 C>A	1.0	4245	COLON	-	-	ID=COSM1140136,COSM516;OCCURENCE=15(stomach),1(central_nervous_system),8(upper_aerodigestive_tract),2(oesophagus),3(peritoneum),1776(lung),18(thyroid),17(haematopoietic_and_lymphoid_tissue),2(testis),2(cervix),4(gastrointestinal_tract_(site_indeterminate)),13(soft_tissue),34(ovary),38(endometrium),5(skin),11(breast),8(small_intestine),1(kidney),130(pancreas),4(liver),15(urinary_tract),1(adrenal_gland),1476(large_intestine),51(biliary_tract),10(prostate)	1	KRAS	uc001rgq.1,p.G12C|uc001rgp.1,p.G12C|ENST00000556131,p.G12C|ENST00000557334,p.G12C|NM_004985,p.G12C|ENST00000311936,p.G12C|NM_033360,p.G12C|ENST00000256078,p.G12C	protein_coding	uc001rgq.1	nonsynonymous SNV	exon2	c.G34T	p.G12C	MTEYKLVVVGAGGVGKSALTIQLI	MTEYKLVVVGACGVGKSALTIQLI	7.0	10.0	-	-	4245_12:25398285-25398285 C>A_MTEYKLVVVGACGVGKSALTIQLI
5:36677147-36677147 G>T	0.0	4245	COLON	-	-	-	-	SLC1A3	NM_001289939,p.V195F|ENST00000265113,p.V241F|uc003jkj.4,p.V241F|uc011cox.2,p.V134F|ENST00000381918,p.V241F|NM_004172,p.V241F|uc010iuy.3,p.V241F|NM_001166695,p.V241F	retained_intron, protein_coding, processed_transcript	uc011cox.2	nonsynonymous SNV	exon5	c.G400T	p.V134F	EELVPVPGSVNGVNALGLVVFSMCF	EELVPVPGSVNGFNALGLVVFSMCF	6.0	3.0	-	-	4245_5:36677147-36677147 G>T_EELVPVPGSVNGFNALGLVVFSMCF
19:51650065-51650065 C>T	0.0	4245	COLON	-	-	-	-	SIGLEC7	uc002pvw.1,p.A268V|uc002pvv.1,p.A361V|NM_016543,p.A268V|NM_014385,p.A361V|ENST00000305628,p.A268V|ENST00000317643,p.A361V	retained_intron, protein_coding, nonsense_mediated_decay	uc002pvw.1	nonsynonymous SNV	exon4	c.C803T	p.A268V	SGVLLGAVGGAGATALVFLSFCVIF	SGVLLGAVGGAGVTALVFLSFCVIF	6.0	5.0	-	-	4245_19:51650065-51650065 C>T_SGVLLGAVGGAGVTALVFLSFCVIF
6:30105002-30105002 G>C	0.0	4245	COLON	-	-	-	-	TRIM40	uc003npm.2,p.E63D|ENST00000376724,p.E63D|uc003npk.2,p.E63D|NM_138700,p.E63D|ENST00000307859,p.E63D|NM_001286633,p.E63D|ENST00000396581,p.E63D	protein_coding, processed_transcript	uc003npm.2	nonsynonymous SNV	exon1	c.G189C	p.E63D	FCCPLCRKPCSEEVLGTGYICPNHQ	FCCPLCRKPCSEDVLGTGYICPNHQ	4.0	10.0	-	-	4245_6:30105002-30105002 G>C_FCCPLCRKPCSEDVLGTGYICPNHQ
13:58206850-58206850 G>T	0.0	4245	COLON	-	-	-	-	PCDH17	uc010aec.1,p.G57V|ENST00000484979,p.G57V|uc001vhq.1,p.G57V|ENST00000377918,p.G57V|NM_001040429,p.G57V	protein_coding, nonsense_mediated_decay	uc010aec.1	nonsynonymous SNV	exon1	c.G170T	p.G57V	QPGLPPAERGGGGRSKSGSYRVLEN	QPGLPPAERGGGVRSKSGSYRVLEN	7.0	6.0	-	-	4245_13:58206850-58206850 G>T_QPGLPPAERGGGVRSKSGSYRVLEN
6:32180934-32180934 G>A	0.0	4245	COLON	-	-	-	-	NOTCH4	ENST00000375023,p.L806F|uc003obb.3,p.L806F|NM_004557,p.L806F	retained_intron, protein_coding, processed_transcript	uc003obb.3	nonsynonymous SNV	exon15	c.C2416T	p.L806F	AMGFQGPRCEGKLRPSCADSPCRNR	AMGFQGPRCEGKFRPSCADSPCRNR	8.0	4.0	-	-	4245_6:32180934-32180934 G>A_AMGFQGPRCEGKFRPSCADSPCRNR
19:5208383-5208383 A>T	0.0	4245	COLON	-	-	-	-	PTPRS	ENST00000588012,p.V1798D|ENST00000372412,p.V1837D|ENST00000353284,p.V1389D|uc010xin.2,p.V1378D|NM_130853,p.V1389D|uc002mbx.3,p.V1393D|uc002mbw.3,p.V1798D|ENST00000592099,p.V1389D|NM_002850,p.V1836D|uc002mby.3,p.V1389D|uc002mbu.1,p.V1405D|ENST00000357368,p.V1836D|ENST00000262963,p.V1816D|uc002mbv.3,p.V1836D|ENST00000587303,p.V1836D|ENST00000348075,p.V1798D|NM_130855,p.V1393D|NM_130854,p.V1798D	retained_intron, protein_coding, processed_transcript	uc010xin.2	nonsynonymous SNV	exon26	c.T4133A	p.V1378D	KVTDARDGQSRTVRQFQFTDWPEQG	KVTDARDGQSRTDRQFQFTDWPEQG	5.0	7.0	-	-	4245_19:5208383-5208383 A>T_KVTDARDGQSRTDRQFQFTDWPEQG
2:135119909-135119909 T>C	1.0	4245	COLON	0.0009	-	-	-	MGAT5	ENST00000281923,p.I437T|uc002ttw.4,p.I437T|ENST00000409645,p.I437T|NM_002410,p.I437T	protein_coding, processed_transcript	uc002ttw.4	nonsynonymous SNV	exon10	c.T1310C	p.I437T	GFVVEQHLNSSDIHHINEIKRQNQS	GFVVEQHLNSSDTHHINEIKRQNQS	9.0	4.0	-	-	4245_2:135119909-135119909 T>C_GFVVEQHLNSSDTHHINEIKRQNQS
4:145640098-145640098 G>T	0.0	4245	COLON	-	-	-	-	HHIP	NM_022475,p.D584Y|ENST00000296575,p.D584Y|uc003ijs.2,p.D584Y	retained_intron, protein_coding, processed_transcript	uc003ijs.2	nonsynonymous SNV	exon11	c.G1750T	p.D584Y	TQTHNGKLYKIVDPKRPLMPEECRA	TQTHNGKLYKIVYPKRPLMPEECRA	6.0	7.0	-	-	4245_4:145640098-145640098 G>T_TQTHNGKLYKIVYPKRPLMPEECRA
6:148835494-148835494 C>T	0.0	4245	COLON	-	-	-	-	SASH1	uc003qme.1,p.S255L|NM_015278,p.S255L|ENST00000367467,p.S255L	protein_coding, processed_transcript	uc003qme.1	nonsynonymous SNV	exon9	c.C764T	p.S255L	NSREQSDDETEESVKFKRLHKLVNS	NSREQSDDETEELVKFKRLHKLVNS	6.0	8.0	-	-	4245_6:148835494-148835494 C>T_NSREQSDDETEELVKFKRLHKLVNS
6:148835494-148835494 C>T	0.0	4245	COLON	-	-	-	-	SASH1	uc011eeb.1,p.S16L	protein_coding, processed_transcript	uc011eeb.1	nonsynonymous SNV	exon2	c.C47T	p.S16L	PSREQSDDETEESVKFKRLHKLVNS	PSREQSDDETEELVKFKRLHKLVNS	6.0	8.0	-	-	4245_6:148835494-148835494 C>T_PSREQSDDETEELVKFKRLHKLVNS
16:20696707-20696707 T>A	0.0	4245	COLON	-	-	-	-	ACSM1	ENST00000523065,p.N71Y|uc010bwg.1,p.N71Y|ENST00000307493,p.N71Y|ENST00000519745,p.N71Y|uc002dhm.1,p.N71Y|ENST00000520010,p.N71Y|NM_052956,p.N71Y	retained_intron, protein_coding, nonsense_mediated_decay	uc010bwg.1	nonsynonymous SNV	exon3	c.A211T	p.N71Y	WAQKEKEGKRGPNPAFWWVNGQGDE	WAQKEKEGKRGPYPAFWWVNGQGDE	6.0	1.0	unscreened	-	4245_16:20696707-20696707 T>A_WAQKEKEGKRGPYPAFWWVNGQGDE
6:167570931-167570931 G>A	0.0	4245	COLON	-	-	ID=COSM1253555;OCCURENCE=1(oesophagus)	-	GPR31	ENST00000366834,p.A130V|NM_005299,p.A130V|uc011egq.2,p.A130V	protein_coding	uc011egq.2	nonsynonymous SNV	exon1	c.C389T	p.A130V	HPRLKVNLLSPQAALGVSGLVWLLM	HPRLKVNLLSPQVALGVSGLVWLLM	2.0	7.0	unscreened	-	4245_6:167570931-167570931 G>A_HPRLKVNLLSPQVALGVSGLVWLLM
9:120474944-120474944 T>G	1.0	4245	COLON	-	-	-	-	TLR4	ENST00000355622,p.L180V|uc004bka.4,p.L140V|uc004bjz.4,p.L180V|ENST00000394487,p.L140V|NM_003266,p.L140V|NM_138554,p.L180V	protein_coding, processed_transcript	uc004bka.4	nonsynonymous SNV	exon4	c.T418G	p.L140V	PEYFSNLTNLEHLDLSSNKIQSIYC	PEYFSNLTNLEHVDLSSNKIQSIYC	8.0	1.0	-	-	4245_9:120474944-120474944 T>G_PEYFSNLTNLEHVDLSSNKIQSIYC
1:168550315-168550315 G>A	0.0	4245	COLON	0.0018	-	-	-	XCL1	ENST00000367818,p.V68I|NM_002995,p.V68I|uc001gfo.2,p.V68I	protein_coding	uc001gfo.2	nonsynonymous SNV	exon3	c.G202A	p.V68I	RAVIFITKRGLKVCADPQATWVRDV	RAVIFITKRGLKICADPQATWVRDV	6.0	9.0	-	-	4245_1:168550315-168550315 G>A_RAVIFITKRGLKICADPQATWVRDV
16:13328907-13328907 T>G	0.0	4245	COLON	-	-	-	-	SHISA9	ENST00000558583,p.F347V|NM_001145204,p.F306V|uc010uyy.2,p.F306V|ENST00000424107,p.F306V	protein_coding, processed_transcript	uc010uyy.2	nonsynonymous SNV	exon5	c.T916G	p.F306V	LKSPKADKVNDDFYTKRRHLAELAA	LKSPKADKVNDDVYTKRRHLAELAA	6.0	4.0	-	-	4245_16:13328907-13328907 T>G_LKSPKADKVNDDVYTKRRHLAELAA
X:68749582-68749582 A>T	0.0	4245	COLON	-	-	-	-	FAM155B	ENST00000252338,p.Y401F|NM_015686,p.Y401F|uc004dxk.3,p.Y401F	protein_coding	uc004dxk.3	nonsynonymous SNV	exon3	c.A1202T	p.Y401F	SYFHHYHQQYHHYHPHHDPPGRVSN	SYFHHYHQQYHHFHPHHDPPGRVSN	4.0	10.0	-	-	4245_X:68749582-68749582 A>T_SYFHHYHQQYHHFHPHHDPPGRVSN
X:65819438-65819438 T>A	0.0	4245	COLON	-	-	-	-	EDA2R	ENST00000253392,p.K282M|NM_001199687,p.K261M|ENST00000450752,p.K282M|ENST00000374719,p.K261M|uc004dws.3,p.K261M|ENST00000451436,p.K137M|uc011mpc.2,p.K137M|ENST00000456230,p.K261M|uc004dwq.3,p.K261M|ENST00000396050,p.K261M|uc004dwt.2,p.K282M|NM_021783,p.K261M|uc022byh.1,p.K263M|NM_001242310,p.K282M	protein_coding	uc022byh.1	nonsynonymous SNV	exon5	c.A788T	p.K263M	HSPIECTELDLQKFSSSASYTGAET	HSPIECTELDLQMFSSSASYTGAET	4.0	5.0	-	-	4245_X:65819438-65819438 T>A_HSPIECTELDLQMFSSSASYTGAET
1:75037939-75037939 G>A	0.0	4245	COLON	-	-	-	-	ERICH3	uc001dgg.3,p.T1152I|NM_001002912,p.T1152I|ENST00000326665,p.T1152I	protein_coding, processed_transcript	uc001dgg.3	nonsynonymous SNV	exon14	c.C3455T	p.T1152I	NPGLLGEDSLKETVVPIFEATPGFE	NPGLLGEDSLKEIVVPIFEATPGFE	3.0	2.0	unscreened	-	4245_1:75037939-75037939 G>A_NPGLLGEDSLKEIVVPIFEATPGFE
11:119031021-119031021 G>T	0.0	4245	COLON	-	-	-	-	ABCG4	NM_001142505,p.A508S|ENST00000307417,p.A508S|ENST00000531739,p.A508S|NM_022169,p.A508S|uc009zar.3,p.A508S|ENST00000449422,p.A508S|uc001pvs.3,p.A508S	retained_intron, protein_coding	uc009zar.3	nonsynonymous SNV	exon13	c.G1522T	p.A508S	QPAETSRFLLFSALATATALVAQSL	QPAETSRFLLFSSLATATALVAQSL	1.0	3.0	unscreened	-	4245_11:119031021-119031021 G>T_QPAETSRFLLFSSLATATALVAQSL
9:125551857-125551857 T>G	0.0	4245	COLON	-	-	-	-	OR5C1	ENST00000373680,p.L216V|uc011lzd.2,p.L216V|NM_001001923,p.L216V	protein_coding	uc011lzd.2	nonsynonymous SNV	exon1	c.T646G	p.L216V	FAICGFIQTATVLAITVSYGFIAGA	FAICGFIQTATVVAITVSYGFIAGA	1.0	1.0	unscreened	-	4245_9:125551857-125551857 T>G_FAICGFIQTATVVAITVSYGFIAGA
11:9868589-9868589 T>C	0.0	4245	COLON	-	-	-	-	SBF2	ENST00000256190,p.I950V|uc001mib.2,p.I950V|NM_030962,p.I950V|uc001mif.3,p.I706V	retained_intron, protein_coding, processed_transcript	uc001mif.3	nonsynonymous SNV	exon22	c.A2116G	p.I706V	EQTVVRSFPIASITKEKKITMQNQL	EQTVVRSFPIASVTKEKKITMQNQL	8.0	8.0	-	-	4245_11:9868589-9868589 T>C_EQTVVRSFPIASVTKEKKITMQNQL
X:30269617-30269617 C>A	0.0	4245	COLON	-	-	-	-	MAGEB1	ENST00000397550,p.S336Y|uc022buh.1,p.S336Y|ENST00000378981,p.S336Y|uc004dcd.3,p.S336Y|NM_177415,p.S336Y|uc004dcc.3,p.S336Y|uc004dce.3,p.S336Y|NM_002363,p.S336Y|NM_177404,p.S336Y|ENST00000397548,p.S336Y	protein_coding	uc022buh.1	nonsynonymous SNV	exon1	c.C1007A	p.S336Y	RRRTTATTFRARSRAPFSRSSHPM	RRRTTATTFRARYRAPFSRSSHPM	1.0	1.0	unscreened	-	4245_X:30269617-30269617 C>A_RRRTTATTFRARYRAPFSRSSHPM
2:179598064-179598064 T>G	0.0	4245	COLON	-	-	-	-	TTN	ENST00000342992,p.K4075T|uc031rqd.1,p.K5002T|uc002umz.1,p.K736T|ENST00000591111,p.K5002T|NM_133378,p.K4075T|ENST00000589042,p.K5319T|uc031rqc.1,p.K5319T|uc021vsy.2,p.K4075T|NM_001256850,p.K5002T|NM_001267550,p.K5319T	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon52	c.A15005C	p.K5002T	YRISFKNNVAQLKFYSAELHDSGQY	YRISFKNNVAQLTFYSAELHDSGQY	5.0	5.0	-	-	4245_2:179598064-179598064 T>G_YRISFKNNVAQLTFYSAELHDSGQY
21:39762920-39762920 G>T	0.0	4245	COLON	-	-	-	1	ERG	uc010gnv.3,p.P190T|uc011ael.2,p.P313T|ENST00000398919,p.P313T|uc011aek.2,p.P214T|NM_001136155,p.P214T|NM_001136154,p.P313T|uc010gnx.3,p.P289T|uc010gnw.3,p.P313T|ENST00000398907,p.P283T|uc002yxa.3,p.P306T|NM_001243428,p.P313T|NM_001243429,p.P190T|ENST00000417133,p.P313T|uc002yxb.3,p.P289T|NM_182918,p.P306T|ENST00000288319,p.P306T|ENST00000442448,p.P289T|ENST00000398910,p.P290T|ENST00000398897,p.P190T|ENST00000398911,p.P289T|ENST00000453032,p.P214T|ENST00000398905,p.P282T|NM_004449,p.P289T	retained_intron, protein_coding, processed_transcript	uc011ael.2	nonsynonymous SNV	exon11	c.C937A	p.P313T	QILGPTSSRLANPGSGQIQLWQFLL	QILGPTSSRLANTGSGQIQLWQFLL	7.0	6.0	-	-	4245_21:39762920-39762920 G>T_QILGPTSSRLANTGSGQIQLWQFLL
19:18391408-18391408 A>T	1.0	4245	COLON	-	-	-	-	JUND	ENST00000600972,p.L34Q|NM_005354,p.L296Q|NM_001286968,p.L253Q|uc002nip.2,p.L296Q|ENST00000252818,p.L296Q	protein_coding, processed_transcript	uc002nip.2	nonsynonymous SNV	exon1	c.T887A	p.L296Q	KCRKRKLERISRLEEKVKTLKSQNT	KCRKRKLERISRQEEKVKTLKSQNT	10.0	6.0	-	-	4245_19:18391408-18391408 A>T_KCRKRKLERISRQEEKVKTLKSQNT
9:126134535-126134535 G>A	0.0	4245	COLON	-	-	-	-	CRB2	NM_173689,p.G839E|uc004bnw.1,p.G839E|ENST00000373631,p.G839E|ENST00000460253,p.G507E|uc004bnx.1,p.G839E|ENST00000373629,p.G507E|ENST00000359999,p.G839E	protein_coding, nonsense_mediated_decay	uc004bnx.1	nonsynonymous SNV	exon9	c.G2516A	p.G839E	NDFHCTCPANFTGPTCAQQLWCPGQ	NDFHCTCPANFTEPTCAQQLWCPGQ	7.0	8.0	-	-	4245_9:126134535-126134535 G>A_NDFHCTCPANFTEPTCAQQLWCPGQ
13:107164973-107164973 G>C	1.0	4245	COLON	-	-	-	-	EFNB2	uc001vqi.3,p.P104A|NM_004093,p.P104A|ENST00000245323,p.P104A	protein_coding	uc001vqi.3	nonsynonymous SNV	exon2	c.C310G	p.P104A	KKENTPLLNCAKPDQDIKFTIKFQE	KKENTPLLNCAKADQDIKFTIKFQE	9.0	1.0	-	-	4245_13:107164973-107164973 G>C_KKENTPLLNCAKADQDIKFTIKFQE
1:228493039-228493039 T>A	0.0	4245	COLON	-	-	-	-	OBSCN	uc001hsq.2,p.S4828T|ENST00000570156,p.S4828T|ENST00000366707,p.S1505T|NM_001271223,p.S4828T	retained_intron, protein_coding, processed_transcript	uc001hsq.2	nonsynonymous SNV	exon54	c.T14482A	p.S4828T	IHGLSVADTGEYSCVCGQEKTSATL	IHGLSVADTGEYTCVCGQEKTSATL	6.0	1.0	-	-	4245_1:228493039-228493039 T>A_IHGLSVADTGEYTCVCGQEKTSATL
7:158494575-158494575 T>A	0.0	4245	COLON	-	-	-	-	NCAPG2	uc011kwe.1,p.T6S|NM_017760,p.T6S|NM_001281932,p.T6S|NM_001281933,p.T6S|ENST00000409423,p.T6S|ENST00000356309,p.T6S|uc003wnx.1,p.T6S|uc003wnv.1,p.T6S|ENST00000409339,p.T6S|ENST00000432615,p.T6S|ENST00000449727,p.T6S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kwe.1	nonsynonymous SNV	exon2	c.A16T	p.T6S	MEKRETFVQAVSKELVGE	MEKRESFVQAVSKELVGE	7.0	10.0	-	-	4245_7:158494575-158494575 T>A_MEKRESFVQAVSKELVGE
17:40183756-40183756 A>T	0.0	4245	COLON	-	-	-	-	ZNF385C	NM_001242704,p.L107H|ENST00000436535,p.L186H|uc021txr.1,p.L107H	retained_intron, protein_coding, processed_transcript	uc021txr.1	nonsynonymous SNV	exon4	c.T320A	p.L107H	EAHYKGHKHARKLKAVEAAKSKQRP	EAHYKGHKHARKHKAVEAAKSKQRP	6.0	2.0	-	-	4245_17:40183756-40183756 A>T_EAHYKGHKHARKHKAVEAAKSKQRP
X:37953569-37953569 A>G	0.0	4245	COLON	-	-	-	-	SYTL5	NM_001163335,p.M285V|uc004ddv.3,p.M285V|ENST00000456733,p.M285V|ENST00000357972,p.M285V|uc004ddu.3,p.M285V|uc004ddx.3,p.M285V|NM_001163334,p.M285V|ENST00000297875,p.M285V|NM_138780,p.M285V	protein_coding	uc004ddx.3	nonsynonymous SNV	exon7	c.A853G	p.M285V	SVISREYGFENSMDLAAIEGTSQEL	SVISREYGFENSVDLAAIEGTSQEL	5.0	9.0	-	-	4245_X:37953569-37953569 A>G_SVISREYGFENSVDLAAIEGTSQEL
9:24544244-24544244 A>T	0.0	4245	COLON	-	-	-	-	IZUMO3	ENST00000418122,p.C62S|uc031tdg.1,p.C143S|ENST00000604921,p.C143S|NM_001271706,p.C143S	protein_coding	uc031tdg.1	nonsynonymous SNV	exon4	c.T427A	p.C143S	VVVEGPILDCWTCLRMTNRCFKGEY	VVVEGPILDCWTSLRMTNRCFKGEY	1.0	7.0	unscreened	-	4245_9:24544244-24544244 A>T_VVVEGPILDCWTSLRMTNRCFKGEY
3:151056195-151056195 C>T	0.0	4245	COLON	-	-	-	-	P2RY12	uc003eyw.1,p.V147I|uc003eyx.1,p.V147I|NM_176876,p.V147I|uc021xga.1,p.V147I|ENST00000302632,p.V147I|NM_022788,p.V147I	retained_intron, protein_coding	uc021xga.1	nonsynonymous SNV	exon1	c.G439A	p.V147I	PKNLLGAKILSVVIWAFMFLLSLPN	PKNLLGAKILSVIIWAFMFLLSLPN	4.0	9.0	-	-	4245_3:151056195-151056195 C>T_PKNLLGAKILSVIIWAFMFLLSLPN
15:79265673-79265673 C>T	1.0	4245	COLON	-	-	-	-	RASGRF1	uc002bep.3,p.G1195D|NM_002891,p.G1211D|uc002beq.3,p.G1211D|NM_001145648,p.G1195D|ENST00000394745,p.G427D|NM_153815,p.G427D|ENST00000558480,p.G1195D|uc002beo.3,p.G427D|ENST00000419573,p.G1211D	retained_intron, protein_coding, processed_transcript, TEC	uc002beq.3	nonsynonymous SNV	exon26	c.G3632A	p.G1211D	FIEEGTPNYTEDGLVNFSKMRMISH	FIEEGTPNYTEDDLVNFSKMRMISH	5.0	8.0	-	-	4245_15:79265673-79265673 C>T_FIEEGTPNYTEDDLVNFSKMRMISH
15:72020900-72020900 G>A	0.0	4245	COLON	-	-	-	-	THSD4	ENST00000355327,p.R457H|ENST00000261862,p.R457H|uc002ate.2,p.R97H|ENST00000357769,p.R97H|NM_024817,p.R457H|uc010ukg.1,p.R97H|uc002atd.1,p.R131H|uc002atb.1,p.R457H|NM_001286429,p.R97H	retained_intron, protein_coding, processed_transcript	uc010ukg.1	nonsynonymous SNV	exon3	c.G290A	p.R97H	MYKSNNYLALRSRSGRSIINGNWAI	MYKSNNYLALRSHSGRSIINGNWAI	6.0	6.0	-	-	4245_15:72020900-72020900 G>A_MYKSNNYLALRSHSGRSIINGNWAI
19:14270937-14270937 T>C	0.0	4245	COLON	-	-	-	-	LPHN1	ENST00000361434,p.K596R|uc010xno.2,p.K596R|NM_014921,p.K596R|uc010xnn.2,p.K601R|ENST00000340736,p.K601R|ENST00000589616,p.K133R|NM_001008701,p.K601R	retained_intron, protein_coding, processed_transcript	uc010xno.2	nonsynonymous SNV	exon8	c.A1787G	p.K596R	QALRPIERESAGKNYNKMHKRERTC	QALRPIERESAGRNYNKMHKRERTC	6.0	1.0	-	-	4245_19:14270937-14270937 T>C_QALRPIERESAGRNYNKMHKRERTC
2:100209920-100209920 C>T	0.0	4245	COLON	-	-	-	1	AFF3	uc010yvr.1,p.A888T|uc010fiq.1,p.A735T|NM_002285,p.A735T|NM_001025108,p.A760T|ENST00000356421,p.A760T|ENST00000409236,p.A735T|uc002taf.3,p.A760T|uc002tah.1,p.A760T|ENST00000409579,p.A760T|ENST00000317233,p.A735T|uc002tag.3,p.A735T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yvr.1	nonsynonymous SNV	exon15	c.G2662A	p.A888T	VGSINARTTSDIAKELEEQFYTLVP	VGSINARTTSDITKELEEQFYTLVP	4.0	9.0	-	-	4245_2:100209920-100209920 C>T_VGSINARTTSDITKELEEQFYTLVP
X:123637503-123637503 G>T	0.0	4245	COLON	-	-	-	-	TENM1	NM_014253,p.Q1118K|uc011muj.2,p.Q1117K|ENST00000422452,p.Q1118K|ENST00000371130,p.Q1118K|uc010nqy.3,p.Q1118K|NM_001163279,p.Q1117K|NM_001163278,p.Q1118K|uc004euj.3,p.Q1118K	protein_coding, processed_transcript	uc011muj.2	nonsynonymous SNV	exon19	c.C3349A	p.Q1117K	EYETCPDFILWEQRTVVLQGFEMDA	EYETCPDFILWEKRTVVLQGFEMDA	2.0	6.0	-	-	4245_X:123637503-123637503 G>T_EYETCPDFILWEKRTVVLQGFEMDA
11:133805605-133805605 G>A	0.0	4245	COLON	-	-	-	-	IGSF9B	ENST00000321016,p.R292W|NM_001277285,p.R292W|uc001qgy.1,p.R134W|ENST00000533871,p.R292W|uc031qfh.1,p.R292W	protein_coding	uc031qfh.1	nonsynonymous SNV	exon7	c.C874T	p.R292W	VRILIDGTLIIFRVKPEDSGKYTCV	VRILIDGTLIIFWVKPEDSGKYTCV	3.0	7.0	-	-	4245_11:133805605-133805605 G>A_VRILIDGTLIIFWVKPEDSGKYTCV
12:22086848-22086848 C>A	0.0	4245	COLON	-	-	-	-	ABCC9	ENST00000326684,p.S51I|ENST00000261200,p.S51I|NM_020297,p.S51I|NM_005691,p.S51I|ENST00000538350,p.S51I|ENST00000345162,p.S51I|ENST00000261201,p.S51I|uc001rfh.3,p.S51I|uc001rfk.3,p.S51I|uc001rfi.1,p.S51I|uc001rfl.1,p.S51I	protein_coding	uc001rfl.1	nonsynonymous SNV	exon4	c.G152T	p.S51I	FITFPILFIGWGSQSSKVQIHHNTW	FITFPILFIGWGIQSSKVQIHHNTW	5.0	10.0	-	-	4245_12:22086848-22086848 C>A_FITFPILFIGWGIQSSKVQIHHNTW
12:130184993-130184993 T>G	0.0	4245	COLON	-	-	-	-	TMEM132D	ENST00000422113,p.L110F|NM_133448,p.L110F|uc009zyl.1,p.L110F	protein_coding	uc009zyl.1	nonsynonymous SNV	exon2	c.A330C	p.L110F	GPFSIEQVVPQDLMLPSNPFGFTNK	GPFSIEQVVPQDFMLPSNPFGFTNK	1.0	10.0	unscreened	-	4245_12:130184993-130184993 T>G_GPFSIEQVVPQDFMLPSNPFGFTNK
19:4508878-4508878 A>C	0.0	4245	COLON	-	-	-	-	PLIN4	ENST00000301286,p.F1188V|uc010dub.1,p.F212V|uc002mar.1,p.F1188V|NM_001080400,p.F1188V	protein_coding	uc010dub.1	nonsynonymous SNV	exon3	c.T634G	p.F212V	SYFVRLGDLGPSFRQRAFEHAVSHL	SYFVRLGDLGPSVRQRAFEHAVSHL	2.0	5.0	-	-	4245_19:4508878-4508878 A>C_SYFVRLGDLGPSVRQRAFEHAVSHL
3:124044947-124044947 T>G	0.0	4245	COLON	-	-	-	-	KALRN	NM_003947,p.F403V|uc003ehf.1,p.F403V|uc011bjy.1,p.F403V|NM_001024660,p.F403V|uc003ehg.3,p.F403V|ENST00000360013,p.F403V|ENST00000460856,p.F403V|uc010hrv.1,p.F403V|ENST00000240874,p.F403V	retained_intron, protein_coding, processed_transcript	uc011bjy.1	nonsynonymous SNV	exon7	c.T1207G	p.F403V	QISTQLDQEWKSFAAALDERSTILA	QISTQLDQEWKSVAAALDERSTILA	8.0	3.0	-	-	4245_3:124044947-124044947 T>G_QISTQLDQEWKSVAAALDERSTILA
1:70715707-70715707 G>T	1.0	4245	COLON	-	-	-	-	SRSF11	uc001dev.3,p.L175F|ENST00000370949,p.L305F|ENST00000370950,p.L365F|uc001deu.2,p.L372F|NM_001190987,p.L365F|NM_004768,p.L365F|ENST00000405432,p.L365F|ENST00000395136,p.L372F|ENST00000370951,p.L365F|uc001det.3,p.L365F|uc001des.3,p.L365F	protein_coding, processed_transcript	uc001dev.3	nonsynonymous SNV	exon9	c.G525T	p.L175F	RSPKKPRSPKRKLSRSPSPRRHKKE	RSPKKPRSPKRKFSRSPSPRRHKKE	10.0	8.0	-	-	4245_1:70715707-70715707 G>T_RSPKKPRSPKRKFSRSPSPRRHKKE
X:104464213-104464213 C>A	0.0	4245	COLON	-	-	-	-	TEX13A	ENST00000413579,p.M221I|NM_001291277,p.M221I|NM_031274,p.M221I	protein_coding	NM_031274	nonsynonymous SNV	exon5	c.G663T	p.M221I	AMAPPVEAGAAPMETQFPHVEARAA	AMAPPVEAGAAPIETQFPHVEARAA	1.0	10.0	unscreened	-	4245_X:104464213-104464213 C>A_AMAPPVEAGAAPIETQFPHVEARAA
17:62007731-62007731 G>A	0.0	4245	COLON	-	-	-	1	CD79B	uc002jdq.1,p.R45W|ENST00000006750,p.R45W|uc002jdp.1,p.R46W|ENST00000392795,p.R46W|NM_001039933,p.R46W|NM_000626,p.R45W	retained_intron, protein_coding	uc002jdq.1	nonsynonymous SNV	exon3	c.C133T	p.R45W	DRYRNPKGSACSRIWQSPRFIARKR	DRYRNPKGSACSWIWQSPRFIARKR	7.0	6.0	-	-	4245_17:62007731-62007731 G>A_DRYRNPKGSACSWIWQSPRFIARKR
X:140996264-140996264 G>T	0.0	4245	COLON	-	-	-	-	MAGEC1	uc022cfi.1,p.G684V|ENST00000406005,p.G92V|NM_005462,p.G1025V|uc010nsl.2,p.G92V|uc004fbt.3,p.G1025V|ENST00000285879,p.G1025V	protein_coding	uc022cfi.1	nonsynonymous SNV	exon1	c.G2051T	p.G684V	YASEEVIWDVLSGIGVRAGREHFAF	YASEEVIWDVLSVIGVRAGREHFAF	1.0	9.0	unscreened	-	4245_X:140996264-140996264 G>T_YASEEVIWDVLSVIGVRAGREHFAF
14:79933698-79933698 C>A	0.0	4245	COLON	-	-	-	-	NRXN3	uc001xur.5,p.R128S|ENST00000428277,p.R128S|uc010asw.4,p.R128S|uc001xuq.3,p.R128S|NM_138970,p.R128S|uc001xun.4,p.R760S|ENST00000554719,p.R760S|ENST00000335750,p.R760S|NM_001105250,p.R128S|NM_001272020,p.R128S|ENST00000557594,p.R128S|NM_004796,p.R760S|ENST00000281127,p.R128S|ENST00000554738,p.R1122S|ENST00000555387,p.R128S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010asw.4	nonsynonymous SNV	exon2	c.C382A	p.R128S	GFSTTVKDGILVRIDSAPGLGDFLQ	GFSTTVKDGILVSIDSAPGLGDFLQ	5.0	5.0	-	-	4245_14:79933698-79933698 C>A_GFSTTVKDGILVSIDSAPGLGDFLQ
X:134990760-134990760 G>T	0.0	4245	COLON	-	-	-	-	SAGE1	uc004ezh.3,p.M475I|ENST00000324447,p.M475I|NM_018666,p.M475I|ENST00000370709,p.M475I|ENST00000535938,p.M475I|uc010nry.1,p.M444I	protein_coding	uc010nry.1	nonsynonymous SNV	exon11	c.G1332T	p.M444I	GLINMAGASIPAMSSRDLYATITHS	GLINMAGASIPAISSRDLYATITHS	1.0	10.0	unscreened	-	4245_X:134990760-134990760 G>T_GLINMAGASIPAISSRDLYATITHS
X:85906066-85906066 C>T	0.0	4245	COLON	-	-	-	-	DACH2	NM_001139515,p.A56V|uc011mra.1,p.A56V|uc004eex.2,p.A210V|ENST00000461604,p.A223V|ENST00000373131,p.A210V|ENST00000373125,p.A223V|ENST00000508860,p.A56V|NM_001139514,p.A210V|uc004eew.2,p.A223V|uc010nmq.2,p.A89V|NM_053281,p.A223V	protein_coding, processed_transcript, nonsense_mediated_decay	uc011mra.1	nonsynonymous SNV	exon4	c.C167T	p.A56V	TPTGITAAAMAEAMKLQKMKLMAMN	TPTGITAAAMAEVMKLQKMKLMAMN	3.0	10.0	-	-	4245_X:85906066-85906066 C>T_TPTGITAAAMAEVMKLQKMKLMAMN
18:25563000-25563000 G>A	0.0	4245	COLON	-	-	-	-	CDH2	NM_001792,p.R753C|uc002kwg.2,p.R753C|ENST00000399380,p.R722C|ENST00000269141,p.R753C|uc010xbn.1,p.R722C	protein_coding	uc010xbn.1	nonsynonymous SNV	exon13	c.C2164T	p.R722C	MFVVWMKRRDKERQAKQLLIDPEDD	MFVVWMKRRDKECQAKQLLIDPEDD	3.0	10.0	unscreened	-	4245_18:25563000-25563000 G>A_MFVVWMKRRDKECQAKQLLIDPEDD
5:112770421-112770421 G>A	0.0	4245	COLON	-	-	ID=COSM2991424,COSM2991423;OCCURENCE=1(large_intestine)	-	TSSK1B	ENST00000390666,p.A39V|NM_032028,p.A39V|uc003kqm.2,p.A39V	protein_coding	uc003kqm.2	nonsynonymous SNV	exon1	c.C116T	p.A39V	KSAYSERLKFNVAIKIIDRKKAPAD	KSAYSERLKFNVVIKIIDRKKAPAD	1.0	9.0	unscreened	-	4245_5:112770421-112770421 G>A_KSAYSERLKFNVVIKIIDRKKAPAD
19:40095847-40095847 A>G	0.0	4245	COLON	-	-	-	-	LGALS13	NM_013268,p.Y41C|uc002omb.3,p.Y41C|ENST00000221797,p.Y41C	retained_intron, protein_coding	uc002omb.3	nonsynonymous SNV	exon3	c.A122G	p.Y41C	SFINDPQLQVDFYTDMDEDSDIAFR	SFINDPQLQVDFCTDMDEDSDIAFR	1.0	5.0	unscreened	-	4245_19:40095847-40095847 A>G_SFINDPQLQVDFCTDMDEDSDIAFR
X:79282782-79282782 C>A	0.0	4245	COLON	-	-	-	-	TBX22	NM_016954,p.P276T|uc010nmg.1,p.P276T|ENST00000373294,p.P276T|NM_001109878,p.P276T|uc004edi.1,p.P156T|ENST00000373296,p.P276T|ENST00000442340,p.P156T|ENST00000373291,p.P156T|NM_001109879,p.P156T|uc004edj.1,p.P276T	protein_coding, processed_transcript	uc010nmg.1	nonsynonymous SNV	exon7	c.C826A	p.P276T	NQQITKLKIERNPFAKGFRDTGRNR	NQQITKLKIERNTFAKGFRDTGRNR	1.0	3.0	unscreened	-	4245_X:79282782-79282782 C>A_NQQITKLKIERNTFAKGFRDTGRNR
1:37267472-37267472 A>C	0.0	4245	COLON	-	-	-	-	GRIK3	NM_000831,p.L914V|uc001caz.2,p.L914V|ENST00000373091,p.L914V	protein_coding, processed_transcript	uc001caz.2	nonsynonymous SNV	exon16	c.T2740G	p.L914V	LPGKDSMACSTSLAPVFP	LPGKDSMACSTSVAPVFP	1.0	3.0	unscreened	-	4245_1:37267472-37267472 A>C_LPGKDSMACSTSVAPVFP
8:3038672-3038672 G>T	0.0	4245	COLON	-	-	-	-	CSMD1	NM_033225,p.D1895E|ENST00000539096,p.D1895E|ENST00000542608,p.D1895E|uc003wqe.3,p.D1052E|uc011kwj.2,p.D1288E|ENST00000602723,p.D1896E|uc022aqr.1,p.D1895E|ENST00000602557,p.D1896E|ENST00000537824,p.D1895E|ENST00000400186,p.D1896E|ENST00000520002,p.D1896E	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon37	c.C5685A	p.D1895E	STSNQLYLHFQSDISVAAAGFHLEY	STSNQLYLHFQSEISVAAAGFHLEY	3.0	1.0	-	-	4245_8:3038672-3038672 G>T_STSNQLYLHFQSEISVAAAGFHLEY
4:126372414-126372414 G>C	0.0	4245	COLON	-	-	-	1	FAT4	NM_024582,p.E3415Q|ENST00000335110,p.E1713Q|NM_001291285,p.E3417Q|uc003ifj.4,p.E3415Q|uc003ifi.1,p.E893Q|uc011cgp.2,p.E1713Q|ENST00000394329,p.E3415Q|NM_001291303,p.E3417Q	retained_intron, protein_coding	uc011cgp.2	nonsynonymous SNV	exon9	c.G5137C	p.E1713Q	IFTLNIYSVQISEGVPIGTHVTFVS	IFTLNIYSVQISQGVPIGTHVTFVS	4.0	3.0	-	-	4245_4:126372414-126372414 G>C_IFTLNIYSVQISQGVPIGTHVTFVS
2:152470801-152470801 G>C	0.0	4245	COLON	-	-	-	-	NEB	uc021vrc.1,p.L3864V|uc002txu.3,p.L3864V|NM_001271208,p.L3864V|NM_001164507,p.L3864V|uc021vrb.1,p.L3621V|ENST00000604864,p.L3864V|uc031rpp.1,p.L3864V|uc021vrd.1,p.L3621V|ENST00000427231,p.L3864V|ENST00000397345,p.L3864V|ENST00000172853,p.L3621V|ENST00000603639,p.L3864V|ENST00000409198,p.L3621V|NM_001164508,p.L3864V	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon77	c.C11590G	p.L3864V	QNDVIQARKAYDLQSDAIYKSDLEW	QNDVIQARKAYDVQSDAIYKSDLEW	5.0	8.0	-	-	4245_2:152470801-152470801 G>C_QNDVIQARKAYDVQSDAIYKSDLEW
11:67203389-67203389 G>A	1.0	4245	COLON	-	-	-	-	PTPRCAP	uc001oli.1,p.R146W|NM_005608,p.R146W|ENST00000326294,p.R146W	protein_coding	uc001oli.1	nonsynonymous SNV	exon2	c.C436T	p.R146W	CGEASSPEQVPVRAEEARDSDTEGD	CGEASSPEQVPVWAEEARDSDTEGD	9.0	9.0	-	-	4245_11:67203389-67203389 G>A_CGEASSPEQVPVWAEEARDSDTEGD
12:53070889-53070889 C>T	0.0	4245	COLON	-	-	-	-	KRT1	ENST00000252244,p.R403H|NM_006121,p.R403H|uc001sav.1,p.R403H|uc001sau.1,p.R403H	retained_intron, protein_coding	uc001sav.1	nonsynonymous SNV	exon6	c.G1208A	p.R403H	VRNSKIEISELNRVIQRLRSEIDNV	VRNSKIEISELNHVIQRLRSEIDNV	4.0	10.0	-	-	4245_12:53070889-53070889 C>T_VRNSKIEISELNHVIQRLRSEIDNV
1:171509769-171509769 C>T	1.0	4245	COLON	-	-	-	-	PRRC2C	ENST00000392078,p.T1055M|NM_015172,p.T1053M|uc010pmh.2,p.T30M|uc010pmg.2,p.T1053M|ENST00000426496,p.T1053M|ENST00000338920,p.T1053M|ENST00000367742,p.T1055M	retained_intron, protein_coding, processed_transcript	uc010pmh.2	nonsynonymous SNV	exon1	c.C89T	p.T30M	KVTEKVVVKPEKTEKKDLPPPPPPP	KVTEKVVVKPEKMEKKDLPPPPPPP	10.0	2.0	-	-	4245_1:171509769-171509769 C>T_KVTEKVVVKPEKMEKKDLPPPPPPP
4:86491748-86491748 G>T	0.0	4245	COLON	-	-	ID=COSM274031;OCCURENCE=1(large_intestine)	-	ARHGAP24	uc003hpi.1,p.Q18H|ENST00000395184,p.Q18H|uc003hpj.3,p.Q18H|uc003hpk.3,p.Q18H|NM_001025616,p.Q18H|ENST00000503995,p.Q18H	retained_intron, protein_coding, processed_transcript	uc003hpk.3	nonsynonymous SNV	exon2	c.G54T	p.Q18H	DSTENPQQGQGRQNAIKCGWLRKQG	DSTENPQQGQGRHNAIKCGWLRKQG	7.0	5.0	unscreened	-	4245_4:86491748-86491748 G>T_DSTENPQQGQGRHNAIKCGWLRKQG
X:127185832-127185832 A>C	0.0	4245	COLON	-	-	-	-	ACTRT1	uc004eum.3,p.I118M|ENST00000371124,p.I118M|NM_138289,p.I118M	protein_coding	uc004eum.3	nonsynonymous SNV	exon1	c.T354G	p.I118M	VLMTEPSLNPREIREKLAEMMFETF	VLMTEPSLNPREMREKLAEMMFETF	1.0	8.0	unscreened	-	4245_X:127185832-127185832 A>C_VLMTEPSLNPREMREKLAEMMFETF
19:37382573-37382573 G>T	0.0	4245	COLON	-	-	-	-	ZNF829	ENST00000520965,p.H455N|NM_001171979,p.H455N|ENST00000391711,p.H374N|uc021utr.1,p.H455N|uc002ofa.2,p.H374N|NM_001037232,p.H374N	retained_intron, protein_coding	uc021utr.1	nonsynonymous SNV	exon6	c.C1363A	p.H455N	IQSSELIQHQRIHTDEKPYECNECG	IQSSELIQHQRINTDEKPYECNECG	5.0	2.0	-	-	4245_19:37382573-37382573 G>T_IQSSELIQHQRINTDEKPYECNECG
3:38317412-38317412 A>C	0.0	4245	COLON	-	-	-	-	SLC22A13	ENST00000311856,p.Q354H|uc003chz.3,p.Q354H|NM_004256,p.Q354H|uc011ayn.1,p.Q354H	protein_coding, nonsense_mediated_decay	uc011ayn.1	nonsynonymous SNV	exon7	c.A1062C	p.Q354H	FVDSLGYYGLSLQVGDFGLDVYLTQ	FVDSLGYYGLSLHVGDFGLDVYLTQ	1.0	5.0	unscreened	-	4245_3:38317412-38317412 A>C_FVDSLGYYGLSLHVGDFGLDVYLTQ
2:96992590-96992590 A>C	0.0	4245	COLON	-	-	-	-	ITPRIPL1	uc002svy.3,p.N82T|uc010yul.2,p.N66T|NM_178495,p.N82T|ENST00000542887,p.N66T|NM_001008949,p.N74T|ENST00000536814,p.N66T|ENST00000439118,p.N74T|ENST00000420176,p.N66T|ENST00000361124,p.N82T|uc002svx.3,p.N74T|NM_001163523,p.N66T|NM_001163524,p.N66T|uc010yuk.2,p.N66T	protein_coding	uc010yul.2	nonsynonymous SNV	exon2	c.A197C	p.N66T	RKRAAEQRQKAENFWTGDTSSDQLV	RKRAAEQRQKAETFWTGDTSSDQLV	4.0	4.0	-	-	4245_2:96992590-96992590 A>C_RKRAAEQRQKAETFWTGDTSSDQLV
11:6943074-6943074 A>C	0.0	4245	COLON	-	-	-	-	OR2D3	ENST00000317834,p.K281T|NM_001004684,p.K281T|uc010rav.2,p.K281T	protein_coding	uc010rav.2	nonsynonymous SNV	exon1	c.A842C	p.K281T	GSGIFTYMRPNSKTTKELDKMISVF	GSGIFTYMRPNSTTTKELDKMISVF	1.0	4.0	unscreened	-	4245_11:6943074-6943074 A>C_GSGIFTYMRPNSTTTKELDKMISVF
1:233497848-233497848 A>C	0.0	4245	COLON	-	-	-	-	KIAA1804	uc001hvs.1,p.K454T|ENST00000366623,p.K454T|uc001hvt.4,p.K454T|ENST00000366624,p.K454T|NM_032435,p.K454T	protein_coding	uc001hvt.4	nonsynonymous SNV	exon5	c.A1361C	p.K454T	REEELTRAALQQKSQEELLKRREQQ	REEELTRAALQQTSQEELLKRREQQ	7.0	2.0	-	-	4245_1:233497848-233497848 A>C_REEELTRAALQQTSQEELLKRREQQ
X:153132271-153132271 C>T	0.0	4245	COLON	-	-	-	-	L1CAM	NM_001143963,p.R750H|ENST00000538883,p.R757H|uc010nuo.4,p.R750H|NM_000425,p.R755H|ENST00000370055,p.R750H|uc004fjb.4,p.R755H|ENST00000361699,p.R755H|ENST00000361981,p.R750H|ENST00000370060,p.R755H|NM_001278116,p.R755H|ENST00000370057,p.R755H|uc004fjc.4,p.R755H|uc031tks.1,p.R755H|NM_024003,p.R755H|ENST00000543994,p.R757H	retained_intron, protein_coding, processed_transcript	uc031tks.1	nonsynonymous SNV	exon19	c.G2264A	p.R755H	WNAPQVQYRVQWRPQGTRGPWQEQI	WNAPQVQYRVQWHPQGTRGPWQEQI	5.0	10.0	-	-	4245_X:153132271-153132271 C>T_WNAPQVQYRVQWHPQGTRGPWQEQI
7:7480446-7480446 C>A	0.0	4245	COLON	-	-	-	-	COL28A1	uc011jxe.1,p.G249V|ENST00000399429,p.G566V|uc003src.1,p.G566V|NM_001037763,p.G566V|uc003srd.3,p.G121V	retained_intron, protein_coding, nonsense_mediated_decay	uc011jxe.1	nonsynonymous SNV	exon22	c.G746T	p.G249V	GKKGSKGNQGQRGLPGPEGPKGEPG	GKKGSKGNQGQRVLPGPEGPKGEPG	4.0	10.0	-	-	4245_7:7480446-7480446 C>A_GKKGSKGNQGQRVLPGPEGPKGEPG
X:104464213-104464213 C>A	0.0	4245	COLON	-	-	-	-	TEX13A	ENST00000372575,p.W222L|ENST00000372578,p.W222L|uc004emb.3,p.W222L	protein_coding	uc004emb.3	nonsynonymous SNV	exon3	c.G665T	p.W222L	PWLPLWRLGLPPWRPSSPTWRPGLP	PWLPLWRLGLPPLRPSSPTWRPGLP	1.0	10.0	unscreened	-	4245_X:104464213-104464213 C>A_PWLPLWRLGLPPLRPSSPTWRPGLP
2:179586723-179586723 C>T	0.0	4245	COLON	-	-	-	-	TTN	NM_001256850,p.R7239H|ENST00000589042,p.R7556H|uc031rqd.1,p.R7239H|uc031rqc.1,p.R7556H|uc021vsy.2,p.R6312H|NM_001267550,p.R7556H|NM_133378,p.R6312H|ENST00000591111,p.R7239H|ENST00000342992,p.R6312H|uc002umz.1,p.R2973H	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon76	c.G21716A	p.R7239H	MRITWSKDNKEIRPGGNYTITCVGN	MRITWSKDNKEIHPGGNYTITCVGN	5.0	9.0	-	-	4245_2:179586723-179586723 C>T_MRITWSKDNKEIHPGGNYTITCVGN
1:17588680-17588680 T>C	0.0	4245	COLON	-	-	-	-	PADI3	NM_016233,p.V109A|ENST00000375460,p.V109A|uc001bai.3,p.V109A	protein_coding	uc001bai.3	nonsynonymous SNV	exon3	c.T326C	p.V109A	HSSHEPLPLAYAVLYLTCVDISLDC	HSSHEPLPLAYAALYLTCVDISLDC	1.0	6.0	unscreened	-	4245_1:17588680-17588680 T>C_HSSHEPLPLAYAALYLTCVDISLDC
6:38831756-38831759 AAAG>-	0.0	4245	COLON	-	-	-	-	DNAH8	NM_001206927,p.K2140fs|ENST00000441566,p.K1923fs|uc021yzh.1,p.K2140fs|ENST00000449981,p.K2140fs|uc003ooe.2,p.K1923fs|ENST00000359357,p.K1923fs|ENST00000327475,p.K2128fs	protein_coding	uc021yzh.1	frameshift deletion	exon45	c.6418_6421del	p.K2140fs	AAQQIYIVLTARKERKKQFIFSDGD	AAQQIYIVLTARKERNSSFFLMVIVLI	1.0	4.0	unscreened	-	4245_6:38831756-38831759 AAAG>-_AAQQIYIVLTARKERNSSFFLMVIVLI
1:223568085-223568085 A>T	0.0	4245	COLON	-	-	-	-	CCDC185	uc001hoa.2,p.N423I|NM_152610,p.N423I|ENST00000366875,p.N423I	protein_coding	uc001hoa.2	nonsynonymous SNV	exon1	c.A1268T	p.N423I	HAVEGQKKVQDTNLSSLINYQARKV	HAVEGQKKVQDTILSSLINYQARKV	1.0	7.0	unscreened	-	4245_1:223568085-223568085 A>T_HAVEGQKKVQDTILSSLINYQARKV
7:44047357-44047357 G>A	0.0	4245	COLON	-	rs62458722	-	-	SPDYE1	ENST00000258704,p.R334H|NM_175064,p.R334H|uc003tjf.3,p.R334H	protein_coding	uc003tjf.3	nonsynonymous SNV	exon6	c.G1001A	p.R334H	DPEHWVWARDRARLS	DPEHWVWARDRAHLS	2.0	6.0	-	-	4245_7:44047357-44047357 G>A_DPEHWVWARDRAHLS
5:112175211-112175211 ->A	0.0	4245	COLON	-	-	-	1	APC	NM_001127510,p.I1307fs|uc010jca.3,p.I607fs|uc011cvt.2,p.I1289fs|uc003kpy.4,p.I1307fs|NM_000038,p.I1307fs|uc010jbz.3,p.I1024fs|ENST00000257430,p.I1307fs|NM_001127511,p.I1289fs|uc003kpz.4,p.I1307fs|ENST00000508376,p.I1307fs|ENST00000457016,p.I1307fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cvt.2	frameshift insertion	exon14	c.3867dupA	p.I1289fs	EADSANTLQIAEIKEKIGTRSAEDP	EADSANTLQIAEIKRKDWN	6.0	8.0	-	-	4245_5:112175211-112175211 ->A_EADSANTLQIAEIKRKDWN
13:58206840-58206840 G>A	0.0	4245	COLON	-	-	-	-	PCDH17	uc010aec.1,p.G54S|uc001vhq.1,p.G54S|ENST00000377918,p.G54S|NM_001040429,p.G54S|ENST00000484979,p.G54S	protein_coding, nonsense_mediated_decay	uc010aec.1	nonsynonymous SNV	exon1	c.G160A	p.G54S	ARLQPGLPPAERGGGGRSKSGSYRV	ARLQPGLPPAERSGGGRSKSGSYRV	7.0	8.0	-	-	4245_13:58206840-58206840 G>A_ARLQPGLPPAERSGGGRSKSGSYRV
5:135610462-135610462 A>C	0.0	4245	COLON	-	-	-	-	TRPC7	uc003lbn.2,p.L343V|NM_001167577,p.L282V|NM_020389,p.L343V|ENST00000355180,p.L282V|ENST00000513104,p.L343V|uc010jeh.2,p.L282V	retained_intron, protein_coding, nonsense_mediated_decay	uc010jeh.2	nonsynonymous SNV	exon3	c.T844G	p.L282V	QLLTMWYENLSGLRQQSIAVKFLAV	QLLTMWYENLSGVRQQSIAVKFLAV	1.0	1.0	unscreened	-	4245_5:135610462-135610462 A>C_QLLTMWYENLSGVRQQSIAVKFLAV
7:14216503-14216503 C>T	0.0	4245	COLON	-	-	-	-	DGKB	uc011jxu.2,p.M755I|ENST00000407950,p.M748I|NM_145695,p.M756I|ENST00000403951,p.M756I|ENST00000402815,p.M755I|ENST00000258767,p.M756I|ENST00000444700,p.M737I|uc003ssz.3,p.M756I|ENST00000399322,p.M756I|NM_004080,p.M756I|uc011jxt.2,p.M737I|ENST00000406247,p.M756I|uc003sta.3,p.M756I	retained_intron, protein_coding, processed_transcript	uc011jxu.2	nonsynonymous SNV	exon24	c.G2265A	p.M755I	SCVVIRTSKSLPMQIDGEPWMQTPC	SCVVIRTSKSLPIQIDGEPWMQTPC	1.0	7.0	-	-	4245_7:14216503-14216503 C>T_SCVVIRTSKSLPIQIDGEPWMQTPC
10:132915188-132915188 ->CCTTCGGT	0.0	4245	COLON	-	-	-	-	TCERG1L	uc001lkp.3,p.G423fs|ENST00000368642,p.G423fs|NM_174937,p.G423fs	retained_intron, protein_coding	uc001lkp.3	frameshift insertion	exon9	c.1268_1269insACCGAAGG	p.G423fs	DQDVKTKRNRTEGCGSPKPEEAKRE	DQDVKTKRNRTEGPKAAGVPSQRRQRERTKAQGRRPRRSSCLWRSV	1.0	7.0	unscreened	-	4245_10:132915188-132915188 ->CCTTCGGT_DQDVKTKRNRTEGPKAAGVPSQRRQRERTKAQGRRPRRSSCLWRSV
2:180835441-180835441 T>A	0.0	4245	COLON	-	-	-	-	CWC22	ENST00000295749,p.E361D|uc002unp.2,p.E361D|ENST00000410053,p.E361D|ENST00000404136,p.E361D|uc010frh.1,p.E361D|NM_020943,p.E361D	protein_coding	uc010frh.1	nonsynonymous SNV	exon10	c.A1083T	p.E361D	DHPIILEGLDLVEEDDQFTHMLPLE	DHPIILEGLDLVDEDDQFTHMLPLE	8.0	2.0	-	-	4245_2:180835441-180835441 T>A_DHPIILEGLDLVDEDDQFTHMLPLE
X:151806762-151806762 T>-	0.0	4245	COLON	-	-	-	-	GABRQ	ENST00000370306,p.F36fs|uc004ffp.1,p.F36fs|NM_018558,p.F36fs	protein_coding	uc004ffp.1	frameshift deletion	exon1	c.106delT	p.F36fs	NYPSPIPKFHFEFSSAVPEVVLNLF	NYPSPIPKFHFESPLLCPKSS	1.0	2.0	unscreened	-	4245_X:151806762-151806762 T>-_NYPSPIPKFHFESPLLCPKSS
20:31756971-31756971 T>A	0.0	4245	COLON	-	-	-	-	BPIFA2	ENST00000253362,p.L7H|ENST00000354932,p.L7H|uc002wyo.1,p.L7H|NM_080574,p.L7H	protein_coding	uc002wyo.1	nonsynonymous SNV	exon2	c.T20A	p.L7H	MLQLWKLVLLCGVLTGTSE	MLQLWKHVLLCGVLTGTSE	3.0	2.0	-	-	4245_20:31756971-31756971 T>A_MLQLWKHVLLCGVLTGTSE
2:152727089-152727089 T>C	0.0	4245	COLON	0.0009	-	-	-	CACNB4	ENST00000397327,p.M172V|uc002txz.3,p.M201V|NM_001005747,p.M185V|ENST00000360283,p.M186V|NM_001005746,p.M201V|NM_001145798,p.M219V|uc002txy.3,p.M185V|uc010fnz.3,p.M219V|ENST00000427385,p.M201V|ENST00000439467,p.M214V|uc002tyb.2,p.M185V|ENST00000534999,p.M185V|uc021vre.1,p.M185V|ENST00000539935,p.M219V|NM_000726,p.M219V|uc002tya.3,p.M219V|ENST00000201943,p.M219V	retained_intron, protein_coding, processed_transcript	uc021vre.1	nonsynonymous SNV	exon7	c.A553G	p.M185V	TEHIPPYDVVPSMRPVVLVGPSLKG	TEHIPPYDVVPSVRPVVLVGPSLKG	3.0	6.0	-	-	4245_2:152727089-152727089 T>C_TEHIPPYDVVPSVRPVVLVGPSLKG
2:138033596-138033596 G>T	0.0	4245	COLON	-	-	-	-	THSD7B	ENST00000272643,p.A834S|ENST00000409968,p.A834S|uc002tvb.3,p.A693S|uc002tva.1,p.A803S|ENST00000413152,p.A803S	retained_intron, protein_coding, processed_transcript	uc002tvb.3	nonsynonymous SNV	exon10	c.G2077T	p.A693S	SSEACGKGLQTRAVSCISDDNRSAE	SSEACGKGLQTRSVSCISDDNRSAE	3.0	9.0	-	-	4245_2:138033596-138033596 G>T_SSEACGKGLQTRSVSCISDDNRSAE
10:105952004-105952004 A>T	0.0	4245	COLON	-	-	-	-	CFAP43	ENST00000428666,p.I501N|ENST00000357060,p.I500N|uc001kxx.4,p.I501N|ENST00000278064,p.I431N|uc001kxw.3,p.I500N|NM_025145,p.I500N	protein_coding, processed_transcript	uc001kxx.4	nonsynonymous SNV	exon12	c.T1502A	p.I501N	FLLVGTAEGKVFIINANSSSSFQII	FLLVGTAEGKVFNINANSSSSFQII	5.0	5.0	-	-	4245_10:105952004-105952004 A>T_FLLVGTAEGKVFNINANSSSSFQII
21:39762920-39762920 G>T	0.0	4245	COLON	-	-	-	1	ERG	uc021wjd.1,p.P313T|NM_001243432,p.P313T	retained_intron, protein_coding, processed_transcript	uc021wjd.1	nonsynonymous SNV	exon11	c.C937A	p.P313T	QILGPTSSRLANPGWTQ	QILGPTSSRLANTGWTQ	7.0	6.0	-	-	4245_21:39762920-39762920 G>T_QILGPTSSRLANTGWTQ
1:157805798-157805798 C>A	0.0	4245	COLON	-	-	-	-	CD5L	NM_005894,p.G68V|uc001frk.4,p.G68V|ENST00000368174,p.G68V	protein_coding, processed_transcript	uc001frk.4	nonsynonymous SNV	exon3	c.G203T	p.G68V	KDVAVLCRELGCGAASGTPSGILYE	KDVAVLCRELGCVAASGTPSGILYE	2.0	5.0	-	-	4245_1:157805798-157805798 C>A_KDVAVLCRELGCVAASGTPSGILYE
11:61188969-61188969 G>A	1.0	4245	COLON	-	-	-	-	CPSF7	uc009ynp.2,p.R56C|NM_024811,p.R99C|ENST00000448745,p.R56C|ENST00000340437,p.R99C|ENST00000544585,p.R56C|uc001nrr.3,p.R56C|ENST00000539952,p.R56C|uc001nrp.3,p.R99C|ENST00000541963,p.R56C|ENST00000536145,p.R56C|ENST00000439958,p.R56C|ENST00000477890,p.R56C|ENST00000450000,p.R56C|ENST00000449811,p.R56C|ENST00000536548,p.R56C|ENST00000537162,p.R56C|NM_001142565,p.R56C|ENST00000543545,p.R56C|ENST00000535222,p.R56C|ENST00000544990,p.R56C|uc001nrq.3,p.R56C|ENST00000413184,p.R56C|ENST00000394888,p.R56C|NM_001136040,p.R56C|ENST00000413232,p.R56C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009ynp.2	nonsynonymous SNV	exon3	c.C166T	p.R56C	DRSSSTEPPPPVRQEPSPKPNNKTP	DRSSSTEPPPPVCQEPSPKPNNKTP	8.0	9.0	-	-	4245_11:61188969-61188969 G>A_DRSSSTEPPPPVCQEPSPKPNNKTP
19:15582896-15582896 T>A	0.0	4245	COLON	-	-	-	-	PGLYRP2	NM_052890,p.H383L|ENST00000292609,p.H383L|uc002nbg.3,p.H383L|uc002nbf.4,p.H383L|ENST00000340880,p.H383L	protein_coding	uc002nbg.3	nonsynonymous SNV	exon3	c.A1148T	p.H383L	EFTEAFLGCPAIHPRCRWGAAPYRG	EFTEAFLGCPAILPRCRWGAAPYRG	3.0	3.0	-	-	4245_19:15582896-15582896 T>A_EFTEAFLGCPAILPRCRWGAAPYRG
4:42145966-42145966 A>C	0.0	4245	COLON	-	-	-	-	BEND4	uc011byy.1,p.V178G|ENST00000502486,p.V178G|uc003gwm.3,p.V178G|NM_001159547,p.V178G|NM_207406,p.V178G|uc003gwn.3,p.V178G|ENST00000504360,p.V174G	protein_coding	uc011byy.1	nonsynonymous SNV	exon2	c.T533G	p.V178G	MILDAFAQQCSRVLSLLNCGGKLLD	MILDAFAQQCSRGLSLLNCGGKLLD	1.0	2.0	-	-	4245_4:42145966-42145966 A>C_MILDAFAQQCSRGLSLLNCGGKLLD
X:106200172-106200172 T>A	0.0	4245	COLON	-	-	-	-	MORC4	uc004emu.4,p.K483M|ENST00000355610,p.K483M|uc004emv.4,p.K483M|uc004emw.4,p.K231M|NM_024657,p.K483M|ENST00000535534,p.K231M|ENST00000255495,p.K483M|NM_001085354,p.K483M	retained_intron, protein_coding	uc004emw.4	nonsynonymous SNV	exon11	c.A692T	p.K231M	ELTDEDLCLSKAKKQEQTVEEKKKM	ELTDEDLCLSKAMKQEQTVEEKKKM	8.0	2.0	-	-	4245_X:106200172-106200172 T>A_ELTDEDLCLSKAMKQEQTVEEKKKM
7:137531323-137531323 C>T	0.0	4245	COLON	-	-	-	-	DGKI	uc003vtt.3,p.A96T|NM_004717,p.A96T|ENST00000446122,p.A96T|ENST00000424189,p.A96T|ENST00000288490,p.A96T	retained_intron, protein_coding, processed_transcript	uc003vtt.3	nonsynonymous SNV	exon1	c.G286A	p.A96T	EGGADPRGAGSAAAAGAAALDEPAA	EGGADPRGAGSATAAGAAALDEPAA	4.0	5.0	-	-	4245_7:137531323-137531323 C>T_EGGADPRGAGSATAAGAAALDEPAA
12:54379191-54379191 G>A	0.0	4245	COLON	-	-	-	-	HOXC10	NM_017409,p.A50T|ENST00000303460,p.A50T|uc001sen.3,p.A50T	protein_coding, processed_transcript	uc001sen.3	nonsynonymous SNV	exon1	c.G148A	p.A50T	DFNCGVMRGCGLAPSLSKRDEGSSP	DFNCGVMRGCGLTPSLSKRDEGSSP	2.0	7.0	unscreened	-	4245_12:54379191-54379191 G>A_DFNCGVMRGCGLTPSLSKRDEGSSP
4:54218799-54218799 T>C	1.0	4245	COLON	-	-	-	-	SCFD2	ENST00000401642,p.N325D|ENST00000388940,p.N325D|NM_152540,p.N325D|uc003gzu.3,p.N325D|uc010igm.3,p.N325D	protein_coding	uc010igm.3	nonsynonymous SNV	exon2	c.A973G	p.N325D	ALTALHTEEENYNVVAPGCLSQSSD	ALTALHTEEENYDVVAPGCLSQSSD	7.0	5.0	-	-	4245_4:54218799-54218799 T>C_ALTALHTEEENYDVVAPGCLSQSSD
4:86491747-86491747 A>-	0.0	4245	COLON	-	-	-	-	ARHGAP24	uc003hpk.3,p.Q18fs|NM_001025616,p.Q18fs|ENST00000503995,p.Q18fs|ENST00000395184,p.Q18fs|uc003hpj.3,p.Q18fs|uc003hpi.1,p.Q18fs	retained_intron, protein_coding, processed_transcript	uc003hpk.3	frameshift deletion	exon2	c.53delA	p.Q18fs	DSTENPQQGQGRQNAIKCGWLRKQG	DSTENPQQGQGRRMPSSVGG	7.0	5.0	-	-	4245_4:86491747-86491747 A>-_DSTENPQQGQGRRMPSSVGG
14:73029145-73029145 G>T	0.0	4245	COLON	-	-	-	-	RGS6	uc021rwa.1,p.K444N|NM_001204419,p.K444N|ENST00000553525,p.K481N|NM_001204416,p.K481N|NM_001204424,p.K481N|ENST00000556437,p.K481N|uc010ttn.2,p.K481N|ENST00000343854,p.K444N|uc001xmy.4,p.K481N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021rwa.1	nonsynonymous SNV	exon17	c.G1332T	p.K444N	KFTRSVGKSLAGKRLTGLMQSS	KFTRSVGKSLAGNRLTGLMQSS	3.0	7.0	unscreened	-	4245_14:73029145-73029145 G>T_KFTRSVGKSLAGNRLTGLMQSS
14:73029145-73029145 G>T	0.0	4245	COLON	-	-	-	-	RGS6	NM_001204420,p.K426N|uc001xmx.4,p.K463N|ENST00000402788,p.K463N|NM_001204423,p.K428N|uc021rvv.1,p.K428N|ENST00000555571,p.K463N|uc001xna.4,p.K463N|ENST00000553530,p.K463N|uc021rwb.1,p.K426N|NM_004296,p.K463N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021rwb.1	nonsynonymous SNV	exon16	c.G1278T	p.K426N	LLAKKKGKSLAGKRLTGLMQSS	LLAKKKGKSLAGNRLTGLMQSS	3.0	7.0	unscreened	-	4245_14:73029145-73029145 G>T_LLAKKKGKSLAGNRLTGLMQSS
2:210685175-210685175 C>A	0.0	4245	COLON	-	-	-	-	UNC80	uc021vvx.1,p.N701K|NM_182587,p.N701K|uc010zjc.1,p.N701K|NM_032504,p.N701K|ENST00000272845,p.N701K|ENST00000439458,p.N701K	retained_intron, protein_coding, processed_transcript	uc021vvx.1	nonsynonymous SNV	exon13	c.C2103A	p.N701K	VPCVEKNRKKSENKENETLEKRPSE	VPCVEKNRKKSEKKENETLEKRPSE	1.0	9.0	unscreened	-	4245_2:210685175-210685175 C>A_VPCVEKNRKKSEKKENETLEKRPSE
4:167983649-167983649 C>T	0.0	4245	COLON	0.0005	-	-	-	SPOCK3	uc003irj.1,p.D77N|uc011cjq.1,p.D89N|ENST00000502741,p.D80N|ENST00000504953,p.D77N|ENST00000502330,p.D80N|ENST00000421836,p.D29N|NM_001204352,p.D29N|uc011cjp.2,p.D77N|ENST00000515143,p.D41N|uc021xuf.1,p.D80N|ENST00000506886,p.D80N|ENST00000507086,p.D80N|ENST00000511531,p.D80N|ENST00000357154,p.D80N|ENST00000511269,p.D77N|uc011cjs.1,p.D29N|NM_001204356,p.D77N|ENST00000509854,p.D77N|ENST00000512042,p.D80N|ENST00000512648,p.D77N|NM_001204358,p.D77N|ENST00000357545,p.D77N|NM_016950,p.D80N|NM_001040159,p.D77N|ENST00000510741,p.D77N|uc003irk.4,p.D77N|ENST00000506697,p.D80N|uc003iri.1,p.D80N	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xuf.1	nonsynonymous SNV	exon3	c.G238A	p.D80N	DYFRTWSPGKPFDQALDPAKDPCLK	DYFRTWSPGKPFNQALDPAKDPCLK	4.0	8.0	-	-	4245_4:167983649-167983649 C>T_DYFRTWSPGKPFNQALDPAKDPCLK
17:10322295-10322295 T>C	0.0	4245	COLON	-	-	-	-	MYH8	ENST00000403437,p.D88G|NM_002472,p.D88G|uc002gmm.2,p.D88G	protein_coding	uc002gmm.2	nonsynonymous SNV	exon4	c.A263G	p.D88G	EDQVFPMNPPKYDKIEDMAMMTHLH	EDQVFPMNPPKYGKIEDMAMMTHLH	1.0	3.0	unscreened	-	4245_17:10322295-10322295 T>C_EDQVFPMNPPKYGKIEDMAMMTHLH
11:7111154-7111154 G>A	0.0	4245	COLON	-	-	ID=COSM1223403;OCCURENCE=1(large_intestine)	-	RBMXL2	ENST00000306904,p.R268H|NM_014469,p.R268H|uc001mfc.2,p.R268H	protein_coding	uc001mfc.2	nonsynonymous SNV	exon1	c.G803A	p.R268H	GYSDRDGYGGRDRDYGDHLSRGSHR	GYSDRDGYGGRDHDYGDHLSRGSHR	2.0	8.0	-	-	4245_11:7111154-7111154 G>A_GYSDRDGYGGRDHDYGDHLSRGSHR
1:247695249-247695249 C>G	0.0	4245	COLON	-	-	-	-	OR2C3	NM_198074,p.A189P|ENST00000366487,p.A189P|uc009xgy.3,p.A189P|uc021pmb.1,p.A189P	protein_coding	uc021pmb.1	nonsynonymous SNV	exon1	c.G565C	p.A189P	HFFCEMPLIMQLACVDTSLNEMEMY	HFFCEMPLIMQLPCVDTSLNEMEMY	1.0	3.0	unscreened	-	4245_1:247695249-247695249 C>G_HFFCEMPLIMQLPCVDTSLNEMEMY
12:97023888-97023888 T>C	0.0	4245	COLON	-	-	-	-	CDK17,NEDD1	uc001ter.1,p.L354P|uc001tes.3,p.L48P	retained_intron, protein_coding, processed_transcript	uc001tes.3	nonsynonymous SNV	exon4	c.T143C	p.L48P	VHDFLKRRNESLLGLIKVKYKDSAL	VHDFLKRRNESLPGLIKVKYKDSAL	3.0	1.0	-	-	4245_12:97023888-97023888 T>C_VHDFLKRRNESLPGLIKVKYKDSAL
11:33667518-33667518 G>A	0.0	4245	COLON	-	-	-	-	KIAA1549L	ENST00000321505,p.R1602K|NM_012194,p.R1602K|uc021qfs.1,p.R1602K|ENST00000389726,p.R1608K	protein_coding	uc021qfs.1	nonsynonymous SNV	exon16	c.G4805A	p.R1602K	VVTSAPGTMTRPRAGVQWVPTYRPE	VVTSAPGTMTRPKAGVQWVPTYRPE	2.0	4.0	-	-	4245_11:33667518-33667518 G>A_VVTSAPGTMTRPKAGVQWVPTYRPE
8:105367119-105367119 A>T	0.0	4245	COLON	-	-	-	-	DCSTAMP	uc003ylx.2,p.Q348H|ENST00000297581,p.Q348H|NM_030788,p.Q348H	protein_coding, processed_transcript	uc003ylx.2	nonsynonymous SNV	exon3	c.A1044T	p.Q348H	VHLKLHGEKQGTQDIIHDSSFNISV	VHLKLHGEKQGTHDIIHDSSFNISV	6.0	3.0	-	-	4245_8:105367119-105367119 A>T_VHLKLHGEKQGTHDIIHDSSFNISV
19:40380421-40380421 C>T	1.0	4245	COLON	-	-	-	-	FCGBP	uc002omp.4,p.G3632S|ENST00000221347,p.G3632S|NM_003890,p.G3632S	protein_coding, processed_transcript	uc002omp.4	nonsynonymous SNV	exon23	c.G10894A	p.G3632S	EGGEVSCEPSSCGPHETCRPSGGSL	EGGEVSCEPSSCSPHETCRPSGGSL	5.0	8.0	-	-	4245_19:40380421-40380421 C>T_EGGEVSCEPSSCSPHETCRPSGGSL
3:151100471-151100471 T>C	0.0	4245	COLON	-	-	-	-	MED12L	NM_053002,p.Y1505H|uc011bnz.2,p.Y1365H|uc003eyy.1,p.Y668H|ENST00000474524,p.Y1505H|uc003eyp.3,p.Y1505H|ENST00000273432,p.Y1365H	protein_coding, processed_transcript	uc011bnz.2	nonsynonymous SNV	exon29	c.T4093C	p.Y1365H	VNQILSNWREERYQDDIKARQMMHE	VNQILSNWREERHQDDIKARQMMHE	2.0	7.0	-	-	4245_3:151100471-151100471 T>C_VNQILSNWREERHQDDIKARQMMHE
5:23526971-23526971 C>A	0.0	4245	COLON	-	-	-	-	PRDM9	ENST00000296682,p.Q592K|uc003jgo.3,p.Q592K|NM_020227,p.Q592K	protein_coding	uc003jgo.3	nonsynonymous SNV	exon11	c.C1774A	p.Q592K	YVCRECGRGFSWQSVLLTHQRTHTG	YVCRECGRGFSWKSVLLTHQRTHTG	1.0	4.0	unscreened	-	4245_5:23526971-23526971 C>A_YVCRECGRGFSWKSVLLTHQRTHTG
15:32688688-32688688 G>C	0.0	4245	COLON	-	-	-	-	GOLGA8K	NM_001282493,p.L311V|ENST00000512626,p.L311V	protein_coding	NM_001282493	nonsynonymous SNV	exon12	c.C931G	p.L311V	PPAVPSEVELQHLRKELERVAGELQ	PPAVPSEVELQHVRKELERVAGELQ	1.0	6.0	unscreened	-	4245_15:32688688-32688688 G>C_PPAVPSEVELQHVRKELERVAGELQ
7:107738946-107738946 C>A	0.0	4245	COLON	-	-	-	-	LAMB4	ENST00000388781,p.G421V|ENST00000205386,p.G421V|uc010ljo.1,p.G421V|ENST00000388780,p.G421V|ENST00000418464,p.G421V|NM_007356,p.G421V|uc003vey.2,p.G421V|ENST00000414450,p.G421V	retained_intron, protein_coding, processed_transcript	uc010ljo.1	nonsynonymous SNV	exon11	c.G1262T	p.G421V	VSHSDPALGSVAGQCLCKENVEGAK	VSHSDPALGSVAVQCLCKENVEGAK	5.0	2.0	-	-	4245_7:107738946-107738946 C>A_VSHSDPALGSVAVQCLCKENVEGAK
7:19184831-19184831 C>T	0.0	4245	COLON	-	-	-	-	FERD3L	ENST00000275461,p.R52K|uc003suo.1,p.R52K|NM_152898,p.R52K	protein_coding	uc003suo.1	nonsynonymous SNV	exon1	c.G155A	p.R52K	GDPALALREGRPRRMARFEEGDPEE	GDPALALREGRPKRMARFEEGDPEE	1.0	6.0	unscreened	-	4245_7:19184831-19184831 C>T_GDPALALREGRPKRMARFEEGDPEE
13:52639556-52639556 A>C	0.0	4245	COLON	-	-	-	-	NEK5	uc001vge.3,p.L705R|ENST00000355568,p.L705R|NM_199289,p.L705R	protein_coding, processed_transcript, nonsense_mediated_decay	uc001vge.3	nonsynonymous SNV	exon22	c.T2114G	p.L705R	QEGKTKDPYSPVLILM	QEGKTKDPYSPVRILM	6.0	3.0	-	-	4245_13:52639556-52639556 A>C_QEGKTKDPYSPVRILM
4:48492910-48492910 C>T	0.0	4245	COLON	-	-	-	-	ZAR1	NM_175619,p.A201V|uc003gyd.3,p.A201V|ENST00000327939,p.A201V	protein_coding, processed_transcript	uc003gyd.3	nonsynonymous SNV	exon1	c.C602T	p.A201V	RLTAFLEGPGPAAGEQRSGASDGER	RLTAFLEGPGPAVGEQRSGASDGER	2.0	7.0	unscreened	-	4245_4:48492910-48492910 C>T_RLTAFLEGPGPAVGEQRSGASDGER
2:234726697-234726697 C>T	0.0	4245	COLON	-	-	-	-	MROH2A	ENST00000389758,p.P1004L|NM_001287395,p.P1007L	retained_intron, protein_coding, processed_transcript	NM_001287395	nonsynonymous SNV	exon28	c.C3020T	p.P1007L	LGQFGTMVGLIAPCTCDAHQRTRMA	LGQFGTMVGLIALCTCDAHQRTRMA	2.0	2.0	unscreened	-	4245_2:234726697-234726697 C>T_LGQFGTMVGLIALCTCDAHQRTRMA
1:152671463-152671463 G>T	0.0	4245	COLON	-	-	-	-	LCE2A	ENST00000368779,p.R29L|uc021oze.1,p.R29L|NM_178428,p.R29L|uc001faj.3,p.R29L	protein_coding	uc021oze.1	nonsynonymous SNV	exon1	c.G86T	p.R29L	PPKCPPKCPPKCRPQCPAPCPPPVS	PPKCPPKCPPKCLPQCPAPCPPPVS	1.0	4.0	unscreened	-	4245_1:152671463-152671463 G>T_PPKCPPKCPPKCLPQCPAPCPPPVS
7:154002604-154002604 G>A	0.0	4245	COLON	-	-	-	-	DPP6	ENST00000427557,p.A9T|NM_001290252,p.A9T|uc011kvq.2,p.A9T|NM_001936,p.A9T|ENST00000332007,p.A9T|uc010lqh.1,p.A9T|uc003wlm.3,p.A9T	retained_intron, protein_coding, processed_transcript	uc011kvq.2	nonsynonymous SNV	exon1	c.G25A	p.A9T	MTTAKEPSASGKSVQQQEQEL	MTTAKEPSTSGKSVQQQEQEL	3.0	7.0	-	-	4245_7:154002604-154002604 G>A_MTTAKEPSTSGKSVQQQEQEL
X:24732688-24732688 C>T	0.0	4245	COLON	-	-	-	-	POLA1	uc004dbl.3,p.R116C|uc004dbm.3,p.R122C|ENST00000379068,p.R122C|NM_016937,p.R116C|ENST00000379059,p.R116C	protein_coding, processed_transcript	uc004dbm.3	nonsynonymous SNV	exon5	c.C364T	p.R122C	LDADEKGKDGKARNKDKRNVKKLAV	LDADEKGKDGKACNKDKRNVKKLAV	8.0	7.0	-	-	4245_X:24732688-24732688 C>T_LDADEKGKDGKACNKDKRNVKKLAV
15:24923209-24923209 A>G	0.0	4245	COLON	-	-	-	-	NPAP1	ENST00000329468,p.N732S|uc001ywo.3,p.N732S|NM_018958,p.N732S	protein_coding	uc001ywo.3	nonsynonymous SNV	exon1	c.A2195G	p.N732S	YLPFYLGLPGSGNTQPSGNTASVQG	YLPFYLGLPGSGSTQPSGNTASVQG	1.0	7.0	unscreened	-	4245_15:24923209-24923209 A>G_YLPFYLGLPGSGSTQPSGNTASVQG
18:51795960-51795960 A>G	0.0	4245	COLON	-	-	-	-	POLI	uc002lfj.4,p.D15G|uc010xds.2,p.D15G|NM_007195,p.D15G|ENST00000579534,p.D15G|ENST00000406285,p.D15G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xds.2	nonsynonymous SNV	exon1	c.A44G	p.D15G	KLGVEPEEEGGGDDDEEDAEAWAME	KLGVEPEEEGGGGDDEEDAEAWAME	7.0	7.0	unscreened	-	4245_18:51795960-51795960 A>G_KLGVEPEEEGGGGDDEEDAEAWAME
3:38318561-38318561 C>T	0.0	4245	COLON	-	-	-	-	SLC22A13	NM_004256,p.T502M|ENST00000311856,p.T502M|uc003chz.3,p.T502M	protein_coding, nonsense_mediated_decay	uc003chz.3	nonsynonymous SNV	exon9	c.C1505T	p.T502M	IVAGLLCTLLPETHGQGLKDTLQDL	IVAGLLCTLLPEMHGQGLKDTLQDL	1.0	4.0	unscreened	-	4245_3:38318561-38318561 C>T_IVAGLLCTLLPEMHGQGLKDTLQDL
18:34340653-34340653 A>G	0.0	4245	COLON	-	-	-	-	FHOD3	NM_001281740,p.E1511G|uc021uiv.1,p.E1511G|ENST00000359247,p.E1311G|NM_025135,p.E1328G|ENST00000445677,p.E1290G|ENST00000592128,p.E307G|ENST00000590592,p.E1511G|ENST00000591635,p.E524G|ENST00000257209,p.E1328G|uc002kzs.1,p.E1328G|NM_001281739,p.E1311G|uc002kzt.1,p.E1311G|uc010dmz.1,p.E1043G	retained_intron, protein_coding, processed_transcript	uc021uiv.1	nonsynonymous SNV	exon27	c.A4532G	p.E1511G	QGLSYAEDAAEHENMKAVLKTSSPS	QGLSYAEDAAEHGNMKAVLKTSSPS	6.0	4.0	-	-	4245_18:34340653-34340653 A>G_QGLSYAEDAAEHGNMKAVLKTSSPS
1:153314132-153314132 G>T	0.0	4245	COLON	-	-	-	-	PGLYRP4	ENST00000359650,p.A199D|uc001fbp.3,p.A195D|uc001fbo.3,p.A199D|ENST00000368739,p.A195D|NM_020393,p.A199D	protein_coding, processed_transcript	uc001fbp.3	nonsynonymous SNV	exon6	c.C584A	p.A195D	VQPLLGKGENCLAPRQKTSLKKACP	VQPLLGKGENCLDPRQKTSLKKACP	2.0	4.0	unscreened	-	4245_1:153314132-153314132 G>T_VQPLLGKGENCLDPRQKTSLKKACP
21:31768521-31768521 C>A	0.0	4245	COLON	-	-	-	-	KRTAP13-1	ENST00000355459,p.D39E|NM_181599,p.D39E|uc002yoa.3,p.D39E	protein_coding	uc002yoa.3	nonsynonymous SNV	exon1	c.C117A	p.D39E	GFSYPSNQVYSTDLCSPSTCQLGSS	GFSYPSNQVYSTELCSPSTCQLGSS	1.0	5.0	unscreened	-	4245_21:31768521-31768521 C>A_GFSYPSNQVYSTELCSPSTCQLGSS
X:130419210-130419210 G>T	0.0	4245	COLON	-	-	-	-	IGSF1	NM_001170961,p.Q204K|uc004ewe.4,p.Q204K|uc022cdw.1,p.Q204K|ENST00000370901,p.Q204K|uc004ewd.3,p.Q204K|NM_001555,p.Q204K|uc004ewg.3,p.Q204K|ENST00000361420,p.Q204K|NM_205833,p.Q204K|ENST00000370910,p.Q195K|uc022cdv.1,p.Q195K|ENST00000370903,p.Q204K|NM_001170962,p.Q195K|ENST00000370900,p.Q204K|uc004ewf.2,p.Q184K|NM_001170963,p.Q204K|ENST00000370904,p.Q195K	protein_coding, processed_transcript	uc022cdw.1	nonsynonymous SNV	exon5	c.C610A	p.Q204K	EDEGVYICRTHIQMLPTLWSEPSNP	EDEGVYICRTHIKMLPTLWSEPSNP	1.0	2.0	-	-	4245_X:130419210-130419210 G>T_EDEGVYICRTHIKMLPTLWSEPSNP
7:82764847-82764847 G>T	0.0	4245	COLON	-	-	-	-	PCLO	uc003uhx.2,p.S673R|NM_014510,p.S673R|uc003uhv.2,p.S673R|ENST00000423517,p.S673R|NM_033026,p.S673R|ENST00000333891,p.S673R	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon3	c.C2019A	p.S673R	LKTAPVTTTSAVSKSSPQPQQTSPK	LKTAPVTTTSAVRKSSPQPQQTSPK	7.0	5.0	-	-	4245_7:82764847-82764847 G>T_LKTAPVTTTSAVRKSSPQPQQTSPK
16:20696709-20696710 GG>-	0.0	4245	COLON	-	-	-	-	ACSM1	ENST00000520010,p.P70fs|uc002dhm.1,p.P70fs|ENST00000523065,p.P70fs|NM_052956,p.P70fs|ENST00000307493,p.P70fs|uc010bwg.1,p.P70fs|ENST00000519745,p.P70fs	retained_intron, protein_coding, nonsense_mediated_decay	uc010bwg.1	frameshift deletion	exon3	c.208_209del	p.P70fs	YWAQKEKEGKRGPNPAFWWVNGQGD	YWAQKEKEGKRGKSSFLVGEWPRG	6.0	1.0	-	-	4245_16:20696709-20696710 GG>-_YWAQKEKEGKRGKSSFLVGEWPRG
7:100087104-100087104 A>C	0.0	4245	COLON	-	-	-	-	NYAP1	ENST00000423930,p.K587T|NM_173564,p.K587T|uc003uvd.2,p.K587T|ENST00000454988,p.K530T|ENST00000300179,p.K587T|uc003uve.2,p.K369T	protein_coding, processed_transcript	uc003uve.2	nonsynonymous SNV	exon1	c.A1106C	p.K369T	KGCGVGAPSPMVKIQLQEQGTDGGA	KGCGVGAPSPMVTIQLQEQGTDGGA	4.0	3.0	-	-	4245_7:100087104-100087104 A>C_KGCGVGAPSPMVTIQLQEQGTDGGA
15:72958452-72958452 C>T	0.0	4245	COLON	-	-	-	-	GOLGA6B	uc010uks.1,p.A646V|ENST00000421285,p.A646V|NM_018652,p.A646V	retained_intron, protein_coding	uc010uks.1	nonsynonymous SNV	exon17	c.C1937T	p.A646V	PTPGAPAPQELGAAGEQDDFYEVSL	PTPGAPAPQELGVAGEQDDFYEVSL	3.0	4.0	unscreened	-	4245_15:72958452-72958452 C>T_PTPGAPAPQELGVAGEQDDFYEVSL
2:210783313-210783313 G>A	0.0	4245	COLON	-	-	ID=COSM219619;OCCURENCE=1(large_intestine),1(NS)	-	UNC80	uc021vvx.1,p.V1686I|ENST00000272845,p.V1686I|uc002vdk.2,p.V852I|NM_032504,p.V1691I|NM_182587,p.V1686I|uc010zjc.1,p.V1691I|ENST00000439458,p.V1691I	retained_intron, protein_coding, processed_transcript	uc021vvx.1	nonsynonymous SNV	exon32	c.G5056A	p.V1686I	FTLPSPVLGMPSVPMFDPPWVPQCS	FTLPSPVLGMPSIPMFDPPWVPQCS	1.0	1.0	unscreened	-	4245_2:210783313-210783313 G>A_FTLPSPVLGMPSIPMFDPPWVPQCS
4:7684503-7684503 ->A	0.0	4245	COLON	-	-	-	-	SORCS2	uc003gkb.4,p.Q459fs|NM_020777,p.Q459fs|ENST00000507866,p.Q459fs|uc011bwi.2,p.Q287fs|ENST00000329016,p.Q287fs	protein_coding, processed_transcript	uc011bwi.2	frameshift insertion	exon10	c.860dupA	p.Q287fs	EVRGVKGVFLANQKIDGKVMTLITY	EVRGVKGVFLANQKN	4.0	6.0	-	-	4245_4:7684503-7684503 ->A_EVRGVKGVFLANQKN
2:122176271-122176271 A>T	0.0	4245	COLON	-	-	-	-	CLASP1	uc002tnc.3,p.S749R|ENST00000263710,p.S749R|NM_015282,p.S749R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tnc.3	nonsynonymous SNV	exon23	c.T2247A	p.S749R	LARSSRIPRPSMSQGCSRDTSRESS	LARSSRIPRPSMRQGCSRDTSRESS	7.0	4.0	-	-	4245_2:122176271-122176271 A>T_LARSSRIPRPSMRQGCSRDTSRESS
19:9076168-9076168 G>T	0.0	4245	COLON	-	-	-	2	MUC16	ENST00000397910,p.P3760T|NM_024690,p.P3760T|uc002mkp.3,p.P3760T	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C11278A	p.P3760T	TATTSAPQGATTPQELTLETMISPA	TATTSAPQGATTTQELTLETMISPA	4.0	1.0	-	-	4245_19:9076168-9076168 G>T_TATTSAPQGATTTQELTLETMISPA
7:43490462-43490462 A>C	0.0	4245	COLON	-	-	-	-	HECW1	NM_015052,p.S812R|uc003tid.1,p.S812R|ENST00000395891,p.S812R	protein_coding, processed_transcript	uc003tid.1	nonsynonymous SNV	exon12	c.A2434C	p.S812R	GECPILHNSQPVSQLPSLRPEHHHY	GECPILHNSQPVRQLPSLRPEHHHY	3.0	1.0	-	-	4245_7:43490462-43490462 A>C_GECPILHNSQPVRQLPSLRPEHHHY
2:99012654-99012654 T>A	0.0	4245	COLON	-	-	-	-	CNGA3	uc010fij.3,p.S345T|ENST00000436404,p.S323T|ENST00000272602,p.S341T|ENST00000409937,p.S345T|uc002syt.3,p.S341T|uc002syu.3,p.S323T|ENST00000393504,p.S341T|NM_001298,p.S341T|NM_001079878,p.S323T	retained_intron, protein_coding	uc010fij.3	nonsynonymous SNV	exon8	c.T1033A	p.S345T	GFGTDSWVYPNISIPEHGRLSRKYI	GFGTDSWVYPNITIPEHGRLSRKYI	1.0	1.0	unscreened	-	4245_2:99012654-99012654 T>A_GFGTDSWVYPNITIPEHGRLSRKYI
17:1840152-1840152 C>T	0.0	4245	COLON	-	-	-	-	RTN4RL1	uc002ftp.3,p.D322N|ENST00000331238,p.D322N|NM_178568,p.D322N	protein_coding	uc002ftp.3	nonsynonymous SNV	exon2	c.G964A	p.D322N	PHQIKSHTLTTTDRAARKEHHSPHG	PHQIKSHTLTTTNRAARKEHHSPHG	4.0	5.0	-	-	4245_17:1840152-1840152 C>T_PHQIKSHTLTTTNRAARKEHHSPHG
7:37780023-37780023 T>A	0.0	4245	COLON	-	-	-	-	GPR141	ENST00000447769,p.S10T|ENST00000450180,p.S10T|NM_181791,p.S10T|ENST00000334425,p.S10T|uc003tfm.1,p.S10T	protein_coding, processed_transcript	uc003tfm.1	nonsynonymous SNV	exon1	c.T28A	p.S10T	MPGHNTSRNSSCDPIVTPHLIS	MPGHNTSRNTSCDPIVTPHLIS	5.0	2.0	-	-	4245_7:37780023-37780023 T>A_MPGHNTSRNTSCDPIVTPHLIS
6:51890244-51890244 G>T	0.0	4245	COLON	-	-	-	-	PKHD1	ENST00000371117,p.A1455D|uc003pah.1,p.A1455D|ENST00000340994,p.A1455D|NM_138694,p.A1455D|NM_170724,p.A1455D|uc003pai.3,p.A1455D	protein_coding	uc003pai.3	nonsynonymous SNV	exon32	c.C4364A	p.A1455D	CQVSLEGDPLPGASFSLNVTVLVNG	CQVSLEGDPLPGDSFSLNVTVLVNG	1.0	1.0	unscreened	-	4245_6:51890244-51890244 G>T_CQVSLEGDPLPGDSFSLNVTVLVNG
19:22362777-22362777 T>A	0.0	4245	COLON	-	-	-	-	ZNF676	ENST00000397121,p.K581I|uc002nqs.1,p.K581I|NM_001001411,p.K581I	protein_coding	uc002nqs.1	nonsynonymous SNV	exon3	c.A1742T	p.K581I	AFKSSSTVSYHKKIHTGENP	AFKSSSTVSYHKIIHTGENP	2.0	4.0	unscreened	-	4245_19:22362777-22362777 T>A_AFKSSSTVSYHKIIHTGENP
20:585303-585303 G>A	0.0	4245	COLON	-	-	-	-	TCF15	NM_004609,p.R178C|ENST00000246080,p.R178C|uc002wdz.3,p.R178C	protein_coding	uc002wdz.3	nonsynonymous SNV	exon2	c.C532T	p.R178C	TFCLSNQRKGGGRRDLGGSCLKVRG	TFCLSNQRKGGGCRDLGGSCLKVRG	4.0	3.0	-	-	4245_20:585303-585303 G>A_TFCLSNQRKGGGCRDLGGSCLKVRG
7:136700501-136700501 A>G	0.0	4245	COLON	-	-	-	-	CHRM2	NM_001006631,p.R297G|NM_001006627,p.R297G|uc003vtj.1,p.R297G|uc003vti.1,p.R297G|uc003vtg.1,p.R297G|NM_001006629,p.R297G|uc003vto.1,p.R297G|uc003vtf.1,p.R297G|ENST00000397608,p.R297G|uc003vtk.1,p.R297G|NM_001006632,p.R297G|uc003vtm.1,p.R297G|NM_001006628,p.R297G|NM_000739,p.R297G|NM_001006630,p.R297G|NM_001006626,p.R297G|ENST00000453373,p.R297G|uc022ame.1,p.R297G|ENST00000402486,p.R297G|ENST00000320658,p.R297G|ENST00000401861,p.R297G|uc003vtn.1,p.R297G|uc003vtl.1,p.R297G|ENST00000445907,p.R297G	protein_coding, processed_transcript	uc022ame.1	nonsynonymous SNV	exon1	c.A889G	p.R297G	DSTSVSAVASNMRDDEITQDENTVS	DSTSVSAVASNMGDDEITQDENTVS	2.0	4.0	unscreened	-	4245_7:136700501-136700501 A>G_DSTSVSAVASNMGDDEITQDENTVS
14:105453137-105453137 A>C	1.0	4245	COLON	-	-	-	-	C14orf79	ENST00000548641,p.Q123H|uc001ypy.1,p.Q123H|NM_174891,p.Q123H|ENST00000547315,p.Q123H|ENST00000389964,p.Q123H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ypy.1	nonsynonymous SNV	exon1	c.A369C	p.Q123H	RTTSAPKECSSHQPCQGGPWVTGTS	RTTSAPKECSSHHPCQGGPWVTGTS	7.0	1.0	-	-	4245_14:105453137-105453137 A>C_RTTSAPKECSSHHPCQGGPWVTGTS
X:134948132-134948132 G>A	0.0	4245	COLON	-	-	-	-	CT45A10	NM_001291530,p.P65S|uc022ces.1,p.P65S|NM_001291528,p.P65S|ENST00000491480,p.P65S|uc004eze.3,p.P65S|NM_001291527,p.P65S|NM_001291529,p.P65S|ENST00000370724,p.P65S|ENST00000463085,p.P65S|uc011mvu.2,p.P65S	protein_coding, nonsense_mediated_decay	uc022ces.1	nonsynonymous SNV	exon3	c.C193T	p.P65S	SKEKKLMTGHAIPPSQLDSQIDDFT	SKEKKLMTGHAISPSQLDSQIDDFT	2.0	2.0	unscreened	-	4245_X:134948132-134948132 G>A_SKEKKLMTGHAISPSQLDSQIDDFT
18:22902066-22902066 T>G	0.0	4245	COLON	-	-	-	1	ZNF521	ENST00000577801,p.E42D|ENST00000580488,p.E42D|uc010dly.2,p.E42D|ENST00000361524,p.E42D|uc002kvk.2,p.E42D|NM_015461,p.E42D|ENST00000538137,p.E42D|ENST00000399425,p.E42D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dly.2	nonsynonymous SNV	exon3	c.A126C	p.E42D	DCKKRPEDGEELEDEAVHSCDSCLQ	DCKKRPEDGEELDDEAVHSCDSCLQ	5.0	3.0	-	-	4245_18:22902066-22902066 T>G_DCKKRPEDGEELDDEAVHSCDSCLQ
6:160176251-160176251 A>G	1.0	4245	COLON	-	-	-	-	WTAP	ENST00000358372,p.S267G|uc031sqv.1,p.S267G|uc003qsl.4,p.S267G|NM_004906,p.S267G|uc003qso.4,p.S148G|NM_001270531,p.S267G	protein_coding, processed_transcript	uc031sqv.1	nonsynonymous SNV	exon8	c.A799G	p.S267G	TASEPVEQSEATSKDCSRLTNGPSN	TASEPVEQSEATGKDCSRLTNGPSN	10.0	3.0	-	-	4245_6:160176251-160176251 A>G_TASEPVEQSEATGKDCSRLTNGPSN
13:20717281-20717281 C>A	0.0	4245	COLON	-	-	-	-	GJA3	uc001umx.1,p.Q49H|uc021rgz.1,p.Q49H|ENST00000241125,p.Q49H|NM_021954,p.Q49H	protein_coding	uc021rgz.1	nonsynonymous SNV	exon1	c.G147T	p.Q49H	LGAAAEDVWGDEQSDFTCNTQQPGC	LGAAAEDVWGDEHSDFTCNTQQPGC	2.0	3.0	-	-	4245_13:20717281-20717281 C>A_LGAAAEDVWGDEHSDFTCNTQQPGC
13:25745345-25745345 T>G	0.0	4245	COLON	-	-	-	-	AMER2	NM_199138,p.N138T|uc001uqb.3,p.N138T|ENST00000357816,p.N138T|uc001uqc.3,p.N138T|ENST00000381853,p.N138T|NM_152704,p.N138T|ENST00000515384,p.N138T|uc001uqa.3,p.N138T	protein_coding	uc001uqc.3	nonsynonymous SNV	exon2	c.A413C	p.N138T	GGDSGGGGGGRPNPGPPRAAGPGGG	GGDSGGGGGGRPTPGPPRAAGPGGG	1.0	3.0	unscreened	-	4245_13:25745345-25745345 T>G_GGDSGGGGGGRPTPGPPRAAGPGGG
2:232081438-232081438 C>T	0.0	4246	COLON	-	-	ID=COSM1195013,COSM1195012;OCCURENCE=2(lung)	-	ARMC9	ENST00000440107,p.L146F|uc002vrq.5,p.L146F|NM_025139,p.L146F|ENST00000349938,p.L146F|uc002vrp.5,p.L146F|NM_001291656,p.L146F|uc031rrs.1,p.L146F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031rrs.1	nonsynonymous SNV	exon5	c.C436T	p.L146F	TKGAALSQTTEFLPFYALPFVPNPM	TKGAALSQTTEFFPFYALPFVPNPM	6.0	10.0	CD8	-	4246_2:232081438-232081438 C>T_TKGAALSQTTEFFPFYALPFVPNPM
3:186504049-186504049 A>T	1.0	4246	COLON	-	-	-	1	EIF4A2	NM_001967,p.N205I|ENST00000440191,p.N206I|ENST00000425053,p.N205I|uc003fqv.3,p.N110I|uc003fqs.3,p.N205I|ENST00000356531,p.N110I|uc003fqw.3,p.N110I|uc011bsb.2,p.N78I|ENST00000323963,p.N205I|uc003fqu.3,p.N206I	retained_intron, protein_coding, nonsense_mediated_decay	uc011bsb.2	nonsynonymous SNV	exon2	c.A233T	p.N78I	FKDQIYEIFQKLNTSIQVVLLSATM	FKDQIYEIFQKLITSIQVVLLSATM	10.0	4.0	-	-	4246_3:186504049-186504049 A>T_FKDQIYEIFQKLITSIQVVLLSATM
11:1247464-1247464 G>A	1.0	4246	COLON	-	-	-	-	MUC5B	uc001lta.3,p.V53M|uc009yct.2,p.V53M|ENST00000447027,p.V53M|ENST00000529681,p.V53M|NM_002458,p.V53M	retained_intron, protein_coding, processed_transcript	uc009yct.2	nonsynonymous SNV	exon3	c.G157A	p.V53M	DGGAPTSSPTRRVSFVPPVTVFPSL	DGGAPTSSPTRRMSFVPPVTVFPSL	8.0	9.0	-	-	4246_11:1247464-1247464 G>A_DGGAPTSSPTRRMSFVPPVTVFPSL
16:84102002-84102002 C>T	1.0	4246	COLON	-	-	-	-	MBTPS1	NM_003791,p.M671I|uc002fhi.3,p.M671I|ENST00000343411,p.M671I|uc002fhh.3,p.M175I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002fhi.3	nonsynonymous SNV	exon15	c.G2013A	p.M671I	TNFRDMYQHLRSMGYFVEVLGAPFT	TNFRDMYQHLRSIGYFVEVLGAPFT	8.0	9.0	-	-	4246_16:84102002-84102002 C>T_TNFRDMYQHLRSIGYFVEVLGAPFT
1:43905656-43905656 G>A	0.0	4246	COLON	-	-	-	-	SZT2	ENST00000372442,p.A1484T|ENST00000562955,p.A2326T|NM_015284,p.A2326T|uc001cjk.3,p.A2326T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001cjk.3	nonsynonymous SNV	exon50	c.G6976A	p.A2326T	EEKLRGAARQALADAIIELQLLPAS	EEKLRGAARQALTDAIIELQLLPAS	8.0	8.0	-	-	4246_1:43905656-43905656 G>A_EEKLRGAARQALTDAIIELQLLPAS
8:120886196-120886196 G>A	0.0	4246	COLON	-	-	-	-	DEPTOR	uc003yow.4,p.G37E|NM_022783,p.G37E|ENST00000286234,p.G37E	protein_coding, processed_transcript	uc003yow.4	nonsynonymous SNV	exon1	c.G110A	p.G37E	RELERMAEVLVTGEQLRLRLHEEKV	RELERMAEVLVTEEQLRLRLHEEKV	6.0	10.0	-	-	4246_8:120886196-120886196 G>A_RELERMAEVLVTEEQLRLRLHEEKV
14:24845660-24845660 A>C	1.0	4246	COLON	-	-	-	-	NFATC4	ENST00000555453,p.E727D|uc010tor.2,p.E739D|ENST00000555167,p.E274D|ENST00000553879,p.E669D|ENST00000554661,p.E669D|NM_004554,p.E739D|uc010ton.2,p.E752D|NM_001288802,p.E727D|uc010too.2,p.E752D|NM_001198965,p.E739D|ENST00000557451,p.E669D|uc010alt.3,p.E771D|uc010tol.2,p.E802D|ENST00000556759,p.E274D|ENST00000554473,p.E274D|ENST00000554591,p.E802D|uc010tok.2,p.E802D|uc010alv.3,p.E727D|ENST00000554966,p.E752D|ENST00000557767,p.E27D|uc010tpa.2,p.E27D|ENST00000554050,p.E739D|uc010alr.3,p.E802D|uc010tox.2,p.E669D|NM_001198966,p.E669D|uc010toy.2,p.E274D|uc010toq.2,p.E771D|ENST00000539237,p.E771D|uc010tov.2,p.E727D|ENST00000555393,p.E27D|ENST00000554344,p.E669D|ENST00000422617,p.E727D|ENST00000553469,p.E771D|ENST00000555802,p.E27D|ENST00000556279,p.E771D|uc010top.2,p.E771D|ENST00000424781,p.E752D|NM_001136022,p.E802D|NM_001198967,p.E802D|uc010tom.2,p.E752D|uc001wpc.3,p.E739D|ENST00000555590,p.E752D|ENST00000250373,p.E739D|uc010tpb.2,p.E27D|uc010tot.2,p.E727D|ENST00000413692,p.E802D|uc010tos.2,p.E669D|ENST00000553708,p.E739D|uc001wpd.3,p.E274D|uc010toz.2,p.E274D|ENST00000556169,p.E727D|uc010tow.2,p.E669D|uc010tou.2,p.E669D	retained_intron, protein_coding, processed_transcript	uc010tpb.2	nonsynonymous SNV	exon4	c.A81C	p.E27D	HEDPACETPYLSEGFGYGMPPLYPQ	HEDPACETPYLSDGFGYGMPPLYPQ	10.0	5.0	-	-	4246_14:24845660-24845660 A>C_HEDPACETPYLSDGFGYGMPPLYPQ
1:35881096-35881096 ->ATTTGT	1.0	4246	COLON	-	-	-	-	ZMYM4	uc001byu.3,p.H1040delinsHLY|uc001byt.3,p.H1364delinsHLY|ENST00000373297,p.H1275delinsHLY|ENST00000314607,p.H1364delinsHLY|NM_005095,p.H1364delinsHLY|uc009vuu.3,p.H1332delinsHLY|uc009vuv.3,p.H1103delinsHLY	protein_coding, processed_transcript	uc009vuv.3	nonframeshift insertion	exon27	c.3307_3308insATTTGT	p.H1103delinsHLY	PNGYMFSRIEEEHLWECKQLGAYSP	PNGYMFSRIEEEHLYLWECKQLGAY	7.0	4.0	-	-	4246_1:35881096-35881096 ->ATTTGT_PNGYMFSRIEEEHLYLWECKQLGAY
8:120886196-120886196 G>A	0.0	4246	COLON	-	-	-	-	DEPTOR	ENST00000523492,p.G37E|NM_001283012,p.G37E|uc011lid.2,p.G37E	protein_coding, processed_transcript	uc011lid.2	nonsynonymous SNV	exon1	c.G110A	p.G37E	RELERMAEVLVTGEQLRLMSPENTL	RELERMAEVLVTEEQLRLMSPENTL	6.0	10.0	-	-	4246_8:120886196-120886196 G>A_RELERMAEVLVTEEQLRLMSPENTL
9:123169329-123169329 C>T	1.0	4246	COLON	-	-	-	-	CDK5RAP2	uc010mvi.3,p.V651M|ENST00000416449,p.V1036M|uc011lya.3,p.V907M|NM_018249,p.V1642M|ENST00000425647,p.V652M|uc011lxz.3,p.V907M|uc011lxw.3,p.V907M|ENST00000360822,p.V1610M|NM_001272039,p.V1412M|uc004bkf.4,p.V1642M|ENST00000349780,p.V1642M|uc004bke.3,p.V927M|ENST00000359309,p.V1601M|uc004bkh.2,p.V1412M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lya.3	nonsynonymous SNV	exon32	c.G2719A	p.V907M	AQEGALTLAVQAVSIPEVPLQPDKH	AQEGALTLAVQAMSIPEVPLQPDKH	10.0	9.0	-	-	4246_9:123169329-123169329 C>T_AQEGALTLAVQAMSIPEVPLQPDKH
18:47376024-47376024 T>G	1.0	4246	COLON	-	-	-	-	MYO5B	ENST00000285039,p.K1410Q|ENST00000324581,p.K525Q|uc002leb.2,p.K1410Q|NM_001080467,p.K1410Q|uc002lea.2,p.K525Q	retained_intron, protein_coding, processed_transcript	uc002leb.2	nonsynonymous SNV	exon32	c.A4228C	p.K1410Q	EISRLTNENLDLKELVEKLEKNERK	EISRLTNENLDLQELVEKLEKNERK	9.0	10.0	CD8	-	4246_18:47376024-47376024 T>G_EISRLTNENLDLQELVEKLEKNERK
9:2161724-2161724 A>C	1.0	4246	COLON	-	-	-	-	SMARCA2	uc003zhc.3,p.E1340D|NM_001289400,p.E46D|NM_001289398,p.E16D|uc010mha.3,p.E1273D|ENST00000302401,p.E46D|ENST00000349721,p.E1340D|ENST00000423555,p.E44D|NM_001289397,p.E1282D|uc011llw.2,p.E44D|NM_139045,p.E1340D|NM_001289396,p.E1340D|uc010mhb.3,p.E28D|uc003zhe.3,p.E46D|uc003zhd.3,p.E1340D|ENST00000382203,p.E1340D|NM_003070,p.E1340D|ENST00000382194,p.E1340D|ENST00000417599,p.E44D|NM_001289399,p.E44D|ENST00000357248,p.E1340D	protein_coding, processed_transcript	uc011llw.2	nonsynonymous SNV	exon3	c.A132C	p.E44D	AIEDGNLEEMEEEVRLKKRKRRRNV	AIEDGNLEEMEEDVRLKKRKRRRNV	9.0	2.0	-	-	4246_9:2161724-2161724 A>C_AIEDGNLEEMEEDVRLKKRKRRRNV
20:16360132-16360132 A>C	1.0	4246	COLON	-	-	-	-	KIF16B	uc010gci.2,p.L839V|NM_001199866,p.L839V|ENST00000355755,p.L839V|ENST00000408042,p.L839V|uc002wpg.2,p.L839V|uc002wpf.1,p.L221V|ENST00000354981,p.L839V|uc010gcj.2,p.L850V|uc002wpe.1,p.L221V|uc010gch.2,p.L839V|NM_024704,p.L839V|NM_001199865,p.L839V|ENST00000378003,p.L65V	protein_coding	uc010gcj.2	nonsynonymous SNV	exon20	c.T2548G	p.L850V	EFKRRQLVKLVNLEKDLVQQKDILK	EFKRRQLVKLVNVEKDLVQQKDILK	10.0	5.0	-	-	4246_20:16360132-16360132 A>C_EFKRRQLVKLVNVEKDLVQQKDILK
13:58206985-58206985 G>A	0.0	4246	COLON	-	-	-	-	PCDH17	ENST00000484979,p.C102Y|uc010aec.1,p.C102Y|ENST00000377918,p.C102Y|NM_001040429,p.C102Y|uc001vhq.1,p.C102Y	protein_coding, nonsense_mediated_decay	uc010aec.1	nonsynonymous SNV	exon1	c.G305A	p.C102Y	IDRESLCRHNAKCQLSLEVFANDKE	IDRESLCRHNAKYQLSLEVFANDKE	7.0	1.0	-	-	4246_13:58206985-58206985 G>A_IDRESLCRHNAKYQLSLEVFANDKE
3:101540697-101540697 A>C	0.0	4246	COLON	-	-	-	-	NXPE3	ENST00000477909,p.T527P|uc010hpn.3,p.T527P|ENST00000491511,p.T527P|ENST00000273347,p.T527P|NM_001134456,p.T527P|NM_145037,p.T527P|ENST00000422132,p.T527P|uc003dvn.3,p.T527P	protein_coding, processed_transcript	uc010hpn.3	nonsynonymous SNV	exon8	c.A1579C	p.T527P	GVGVYLVDAWEMTLAHYLPHKLHPD	GVGVYLVDAWEMPLAHYLPHKLHPD	5.0	6.0	-	-	4246_3:101540697-101540697 A>C_GVGVYLVDAWEMPLAHYLPHKLHPD
19:21476293-21476293 G>A	0.0	4246	COLON	-	-	-	-	ZNF708	ENST00000356929,p.T492I|uc002npr.1,p.T428I|uc002npq.1,p.T492I|NM_001297560,p.T428I|uc010ecs.1,p.T428I|NM_021269,p.T492I|NM_001297561,p.T428I	protein_coding, nonsense_mediated_decay	uc010ecs.1	nonsynonymous SNV	exon4	c.C1283T	p.T428I	ECGKSFILSSHLTTHKIIHTGEKPY	ECGKSFILSSHLITHKIIHTGEKPY	8.0	9.0	-	-	4246_19:21476293-21476293 G>A_ECGKSFILSSHLITHKIIHTGEKPY
20:35788510-35788510 C>T	0.0	4246	COLON	-	-	-	-	MROH8	ENST00000441008,p.A226T|ENST00000400441,p.A240T|ENST00000217333,p.A155T	protein_coding, processed_transcript	ENST00000441008	nonsynonymous SNV	exon8	c.G676A	p.A226T	SSSMRQEVFVTIADLSYQDVHLLLG	SSSMRQEVFVTITDLSYQDVHLLLG	5.0	8.0	-	-	4246_20:35788510-35788510 C>T_SSSMRQEVFVTITDLSYQDVHLLLG
17:67125766-67125766 T>G	0.0	4246	COLON	-	-	-	-	ABCA6	NM_080284,p.L306F|uc002jhw.1,p.L306F|ENST00000284425,p.L306F	retained_intron, protein_coding, processed_transcript	uc002jhw.1	nonsynonymous SNV	exon7	c.A918C	p.L306F	MTGFMVIFILFFLYGLSLVALVFLM	MTGFMVIFILFFFYGLSLVALVFLM	5.0	9.0	-	-	4246_17:67125766-67125766 T>G_MTGFMVIFILFFFYGLSLVALVFLM
1:145313354-145313354 A>C	0.0	4246	COLON	-	-	-	-	NBPF10,NBPF20,NBPF9	uc010oye.3,p.D670A	protein_coding, processed_transcript	uc010oye.3	nonsynonymous SNV	exon23	c.A2009C	p.D670A	NPPCPRLSRELLDEKEPEVLQDSLD	NPPCPRLSRELLAEKEPEVLQDSLD	8.0	5.0	unscreened	-	4246_1:145313354-145313354 A>C_NPPCPRLSRELLAEKEPEVLQDSLD
1:145313354-145313354 A>C	0.0	4246	COLON	-	-	-	-	NBPF10,NBPF20,NBPF9	uc010oyl.3,p.D27A|uc021oun.1,p.D27A|uc021ots.1,p.D271A|NM_001278267,p.D1793A|uc031poc.1,p.D700A|ENST00000369338,p.D427A|NM_001039703,p.D700A	protein_coding, processed_transcript	uc031poc.1	nonsynonymous SNV	exon16	c.A2099C	p.D700A	DPSCPRLSRELLDEKEPEVLQDSLD	DPSCPRLSRELLAEKEPEVLQDSLD	8.0	5.0	unscreened	-	4246_1:145313354-145313354 A>C_DPSCPRLSRELLAEKEPEVLQDSLD
1:145313354-145313354 A>C	0.0	4246	COLON	-	-	-	-	NBPF10,NBPF20,NBPF9	uc021oul.2,p.D625A|ENST00000342960,p.D625A	protein_coding, processed_transcript	uc021oul.2	nonsynonymous SNV	exon14	c.A1874C	p.D625A	EATGPRLSRELLDEKEPEVLQDSLD	EATGPRLSRELLAEKEPEVLQDSLD	8.0	5.0	unscreened	-	4246_1:145313354-145313354 A>C_EATGPRLSRELLAEKEPEVLQDSLD
15:65425743-65425743 G>T	1.0	4246	COLON	-	-	-	-	PDCD7	NM_005707,p.P126Q|uc002aol.3,p.P126Q|ENST00000204549,p.P126Q	retained_intron, protein_coding	uc002aol.3	nonsynonymous SNV	exon1	c.C377A	p.P126Q	PGPPWSPRWPEAPPPPADVLGDAAL	PGPPWSPRWPEAQPPPADVLGDAAL	9.0	10.0	-	-	4246_15:65425743-65425743 G>T_PGPPWSPRWPEAQPPPADVLGDAAL
1:183556030-183556030 T>G	0.0	4246	COLON	-	-	-	-	NCF2	uc001gqk.4,p.K86T|NM_001127651,p.K86T|NM_001190794,p.K86T|uc010pod.2,p.K86T|NM_001190789,p.K86T|ENST00000418089,p.K86T|uc010poe.2,p.K86T|ENST00000413720,p.K86T|uc001gqj.4,p.K86T|NM_000433,p.K86T|ENST00000367535,p.K86T|ENST00000367536,p.K86T	protein_coding, processed_transcript	uc010poe.2	nonsynonymous SNV	exon2	c.A257C	p.K86T	YFQRGMLYYQTEKYDLAIKDLKEAL	YFQRGMLYYQTETYDLAIKDLKEAL	7.0	2.0	-	-	4246_1:183556030-183556030 T>G_YFQRGMLYYQTETYDLAIKDLKEAL
11:70031775-70031775 C>T	0.0	4246	COLON	-	-	-	-	ANO1	ENST00000531349,p.R599W|NM_018043,p.R890W|ENST00000538023,p.R890W|uc010rqk.2,p.R599W|ENST00000530676,p.R744W|ENST00000355303,p.R890W|ENST00000398543,p.R744W|uc010rql.1,p.R64W|uc001opj.3,p.R890W	retained_intron, protein_coding, processed_transcript	uc010rql.1	nonsynonymous SNV	exon5	c.C190T	p.R64W	DISKDFWAVLAARLAFVIVFQNLVM	DISKDFWAVLAAWLAFVIVFQNLVM	5.0	1.0	-	-	4246_11:70031775-70031775 C>T_DISKDFWAVLAAWLAFVIVFQNLVM
1:17735596-17735596 C>T	1.0	4246	COLON	-	-	-	-	RCC2	ENST00000375433,p.R520Q|ENST00000375436,p.R520Q|uc001bam.3,p.R520Q|uc001bal.3,p.R520Q|NM_001136204,p.R520Q|NM_018715,p.R520Q	protein_coding, processed_transcript	uc001bam.3	nonsynonymous SNV	exon13	c.G1559A	p.R520Q	KEKIKKLPEYNPRTL	KEKIKKLPEYNPQTL	9.0	7.0	-	-	4246_1:17735596-17735596 C>T_KEKIKKLPEYNPQTL
1:10397261-10397261 G>T	0.0	4246	COLON	-	-	-	-	KIF1B	uc001ara.3,p.D1047Y|ENST00000377081,p.D1087Y|ENST00000263934,p.D1041Y|NM_015074,p.D1041Y|uc001aqz.3,p.D1087Y|uc001aqw.4,p.D1041Y|ENST00000377086,p.D1087Y|uc001aqx.4,p.D1087Y|uc001arb.3,p.D1073Y|uc001aqy.3,p.D1061Y	retained_intron, protein_coding, processed_transcript	uc001arb.3	nonsynonymous SNV	exon28	c.G3217T	p.D1073Y	TPPEEISRINDLDLKSSTLLDGKMV	TPPEEISRINDLYLKSSTLLDGKMV	7.0	2.0	-	-	4246_1:10397261-10397261 G>T_TPPEEISRINDLYLKSSTLLDGKMV
11:55405880-55405880 C>-	0.0	4246	COLON	-	-	-	-	OR4P4	ENST00000314612,p.S16fs|NM_001004124,p.S16fs|uc010rij.2,p.S16fs	protein_coding	uc010rij.2	frameshift deletion	exon1	c.47delC	p.S16fs	SNNSTLFILLGFSQNKNIEVLCFVL	SNNSTLFILLGFSKIRTLKSSALYYFCFATLLFGWETYS	1.0	1.0	-	-	4246_11:55405880-55405880 C>-_SNNSTLFILLGFSKIRTLKSSALYYFCFATLLFGWETYS
13:46725147-46725147 A>G	0.0	4246	COLON	-	-	-	2	LCP1	uc001vba.4,p.L269P|ENST00000398576,p.L269P|ENST00000323076,p.L269P|NM_002298,p.L269P|uc001vaz.4,p.L269P	protein_coding, processed_transcript	uc001vba.4	nonsynonymous SNV	exon8	c.T806C	p.L269P	SLEDLMKLSPEELLLRWANYHLENA	SLEDLMKLSPEEPLLRWANYHLENA	7.0	3.0	-	-	4246_13:46725147-46725147 A>G_SLEDLMKLSPEEPLLRWANYHLENA
19:992096-992096 C>T	1.0	4246	COLON	-	-	-	-	WDR18	ENST00000587001,p.T358I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000587001	nonsynonymous SNV	exon8	c.C1073T	p.T358I	AEHGDEPRHGGLTLRLGLHQQSVLG	AEHGDEPRHGGLILRLGLHQQSVLG	10.0	6.0	-	-	4246_19:992096-992096 C>T_AEHGDEPRHGGLILRLGLHQQSVLG
19:992096-992096 C>T	1.0	4246	COLON	-	-	-	-	WDR18	uc002lqm.1,p.T358I|NM_024100,p.T358I|ENST00000251289,p.T358I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lqm.1	nonsynonymous SNV	exon8	c.C1073T	p.T358I	AEHGDEPRHGGLTLRLGLHQQGSEP	AEHGDEPRHGGLILRLGLHQQGSEP	10.0	6.0	-	-	4246_19:992096-992096 C>T_AEHGDEPRHGGLILRLGLHQQGSEP
5:179397438-179397438 A>C	1.0	4246	COLON	-	-	-	-	RNF130	uc003mll.1,p.L306R|NM_001280801,p.L306R|ENST00000522208,p.L306R|uc003mlm.1,p.L306R|NM_018434,p.L306R|ENST00000521389,p.L306R|ENST00000261947,p.L306R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003mlm.1	nonsynonymous SNV	exon6	c.T917G	p.L306R	WLSEHCTCPMCKLNILKALGIVPNL	WLSEHCTCPMCKRNILKALGIVPNL	9.0	4.0	-	-	4246_5:179397438-179397438 A>C_WLSEHCTCPMCKRNILKALGIVPNL
4:15060110-15060110 G>A	1.0	4246	COLON	-	-	-	-	CPEB2	ENST00000382401,p.E371K|ENST00000345451,p.E368K|uc003gnj.2,p.E805K|NM_001177384,p.E808K|ENST00000509684,p.E51K|uc003gnk.2,p.E843K|uc003gnl.2,p.E816K|uc003gnn.2,p.E808K|NM_001177382,p.E843K|ENST00000382395,p.E376K|ENST00000507071,p.E398K|NM_001177383,p.E813K|ENST00000541112,p.E835K|NM_001177381,p.E816K|uc003gni.2,p.E835K|NM_182485,p.E835K|ENST00000442003,p.E816K|ENST00000259997,p.E406K|ENST00000538197,p.E843K|uc003gnm.2,p.E813K|NM_182646,p.E805K	retained_intron, protein_coding	uc003gnn.2	nonsynonymous SNV	exon7	c.G2422A	p.E808K	SSVQALIDACIEEDGKLYLCVSSPT	SSVQALIDACIEKDGKLYLCVSSPT	5.0	8.0	-	-	4246_4:15060110-15060110 G>A_SSVQALIDACIEKDGKLYLCVSSPT
10:75532594-75532594 C>A	0.0	4246	COLON	-	-	-	-	FUT11	uc001juz.1,p.T168N|NM_173540,p.T168N|uc001juy.1,p.T168N|uc001jva.3,p.T168N|ENST00000394790,p.T168N|ENST00000372841,p.T168N|NM_001284194,p.T168N	protein_coding, processed_transcript	uc001jva.3	nonsynonymous SNV	exon1	c.C503A	p.T168N	LSHGPGIRLFNLTSTFSRHSDYPLS	LSHGPGIRLFNLNSTFSRHSDYPLS	8.0	9.0	-	-	4246_10:75532594-75532594 C>A_LSHGPGIRLFNLNSTFSRHSDYPLS
1:225328503-225328503 A>C	0.0	4246	COLON	-	-	-	-	DNAH14	ENST00000445597,p.S1029R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000445597	nonsynonymous SNV	exon17	c.A3085C	p.S1029R	KSQIMFYNDCVKSFVSSYSREKLEK	KSQIMFYNDCVKRFVSSYSREKLEK	9.0	7.0	unscreened	-	4246_1:225328503-225328503 A>C_KSQIMFYNDCVKRFVSSYSREKLEK
1:225328503-225328503 A>C	0.0	4246	COLON	-	-	-	-	DNAH14	uc001how.2,p.S1413R|NM_001373,p.S1413R|ENST00000439375,p.S1413R|ENST00000430092,p.S1413R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001how.2	nonsynonymous SNV	exon27	c.A4237C	p.S1413R	QSQIMFYNDCVKSFVSSYSREKLEK	QSQIMFYNDCVKRFVSSYSREKLEK	9.0	7.0	-	-	4246_1:225328503-225328503 A>C_QSQIMFYNDCVKRFVSSYSREKLEK
1:225328503-225328503 A>C	0.0	4246	COLON	-	-	-	-	DNAH14	ENST00000328556,p.S508R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000328556	nonsynonymous SNV	exon10	c.A1522C	p.S508R	VSQIMFYNDCVKSFVSSYSREKLEK	VSQIMFYNDCVKRFVSSYSREKLEK	9.0	7.0	unscreened	-	4246_1:225328503-225328503 A>C_VSQIMFYNDCVKRFVSSYSREKLEK
5:112175350-112175350 ->T	0.0	4246	COLON	-	-	-	1	APC	uc010jbz.3,p.E1070fs|uc003kpy.4,p.E1353fs|ENST00000457016,p.E1353fs|ENST00000257430,p.E1353fs|uc003kpz.4,p.E1353fs|ENST00000508376,p.E1353fs|NM_001127511,p.E1335fs|NM_001127510,p.E1353fs|uc011cvt.2,p.E1335fs|NM_000038,p.E1353fs|uc010jca.3,p.E653fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cvt.2	frameshift insertion	exon14	c.4006dupT	p.E1335fs	SLSSESARHKAVEFSSGAKSPSKSG	SLSSESARHKAVEFFFRSEISLQKWCSDTQKST	5.0	2.0	-	-	4246_5:112175350-112175350 ->T_SLSSESARHKAVEFFFRSEISLQKWCSDTQKST
5:148619409-148619409 T>C	0.0	4246	COLON	-	-	-	-	ABLIM3	ENST00000506113,p.S388P|uc003lqa.1,p.S334P|uc003lqc.1,p.S388P|uc003lpy.2,p.S388P|NM_001301028,p.S326P|uc003lqb.3,p.S326P|NM_001301027,p.S334P|NM_001301018,p.S388P|NM_014945,p.S388P|ENST00000356541,p.S326P|uc003lpz.1,p.S388P|ENST00000504238,p.S326P|uc003lqf.3,p.S326P|ENST00000326685,p.S326P|uc003lqe.1,p.S326P|NM_001301015,p.S388P|ENST00000508983,p.S388P|uc003lqd.1,p.S326P|ENST00000309868,p.S388P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003lqf.3	nonsynonymous SNV	exon10	c.T976C	p.S326P	YIDSPTYSRQGMSPTFSRSPHHYYR	YIDSPTYSRQGMPPTFSRSPHHYYR	6.0	2.0	-	-	4246_5:148619409-148619409 T>C_YIDSPTYSRQGMPPTFSRSPHHYYR
16:82101843-82101843 G>A	0.0	4246	COLON	-	-	ID=COSM1380122;OCCURENCE=1(large_intestine)	-	HSD17B2	uc002fgv.3,p.G112R|ENST00000199936,p.G112R|NM_002153,p.G112R|ENST00000569351,p.G40R	protein_coding, TEC	uc002fgv.3	nonsynonymous SNV	exon2	c.G334A	p.G112R	KYLDELGFTVFAGVLNENGPGAEEL	KYLDELGFTVFARVLNENGPGAEEL	6.0	9.0	-	-	4246_16:82101843-82101843 G>A_KYLDELGFTVFARVLNENGPGAEEL
2:128072428-128072428 C>T	1.0	4246	COLON	-	-	-	-	MAP3K2	NM_006609,p.G453D|uc002toj.2,p.G453D|ENST00000344908,p.G453D|ENST00000409947,p.G453D	protein_coding	uc002toj.2	nonsynonymous SNV	exon14	c.G1358A	p.G453D	PGGSIKDQLKAYGALTENVTRKYTR	PGGSIKDQLKAYDALTENVTRKYTR	7.0	8.0	-	-	4246_2:128072428-128072428 C>T_PGGSIKDQLKAYDALTENVTRKYTR
3:100170756-100170756 G>A	0.0	4246	COLON	-	-	ID=COSM1035617;OCCURENCE=1(endometrium)	-	LNP1	uc003dtx.4,p.R117Q|ENST00000383693,p.R117Q|ENST00000489752,p.R130Q|NM_001085451,p.R117Q	protein_coding, nonsense_mediated_decay	uc003dtx.4	nonsynonymous SNV	exon3	c.G350A	p.R117Q	HSKIEKFSESFERQLCFRTKRSASL	HSKIEKFSESFEQQLCFRTKRSASL	5.0	5.0	-	-	4246_3:100170756-100170756 G>A_HSKIEKFSESFEQQLCFRTKRSASL
6:129823850-129823850 A>C	1.0	4246	COLON	-	-	-	-	LAMA2	uc021zfb.1,p.K2764T|NM_000426,p.K2764T|ENST00000421865,p.K2764T|NM_001079823,p.K2760T	protein_coding, processed_transcript	uc021zfb.1	nonsynonymous SNV	exon59	c.A8291C	p.K2764T	AAESEPALLIGSKQFGLSRNSHIAI	AAESEPALLIGSTQFGLSRNSHIAI	1.0	3.0	-	-	4246_6:129823850-129823850 A>C_AAESEPALLIGSTQFGLSRNSHIAI
7:123593799-123593799 T>-	0.0	4246	COLON	-	-	-	-	SPAM1	uc003vle.3,p.F59fs|NM_001174044,p.F59fs|ENST00000340011,p.F59fs|NM_001174045,p.F59fs|uc022aks.1,p.F59fs|uc010lku.3,p.F59fs|NM_003117,p.F59fs|NM_001174046,p.F59fs|ENST00000402183,p.F59fs|ENST00000439500,p.F59fs|uc003vld.3,p.F59fs|ENST00000413927,p.F59fs|ENST00000460182,p.F59fs|uc003vlf.4,p.F59fs|ENST00000223028,p.F59fs|NM_153189,p.F59fs	protein_coding	uc022aks.1	frameshift deletion	exon3	c.175delT	p.F59fs	VPFLWAWNAPSEFCLGKFDEPLDMS	VPFLWAWNAPSEFVLENLMSH	1.0	5.0	-	-	4246_7:123593799-123593799 T>-_VPFLWAWNAPSEFVLENLMSH
15:62233969-62233969 G>C	1.0	4246	COLON	0.0005	-	-	-	VPS13C	ENST00000249837,p.L1773V|uc002ahb.2,p.L1816V|NM_018080,p.L1773V|ENST00000395898,p.L1773V|uc002aha.3,p.L1773V|uc002agz.3,p.L1816V|ENST00000395896,p.L1816V|uc002ahc.2,p.L1773V|NM_001018088,p.L1816V|NM_020821,p.L1816V|ENST00000261517,p.L1816V|NM_017684,p.L1773V	retained_intron, protein_coding, processed_transcript	uc002ahc.2	nonsynonymous SNV	exon44	c.C5317G	p.L1773V	IDKMNIELTQLKLSRTILQASLPQN	IDKMNIELTQLKVSRTILQASLPQN	8.0	5.0	-	-	4246_15:62233969-62233969 G>C_IDKMNIELTQLKVSRTILQASLPQN
8:128750555-128750555 A>G	1.0	4246	COLON	-	-	-	1	MYC	ENST00000524013,p.Y30C|ENST00000377970,p.Y31C|ENST00000259523,p.Y16C|ENST00000517291,p.Y30C|NM_002467,p.Y31C|uc003ysi.3,p.Y31C|uc003ysh.1,p.Y16C|uc022bbe.1,p.Y16C	protein_coding	uc022bbe.1	nonsynonymous SNV	exon2	c.A47G	p.Y16C	NVSFTNRNYDLDYDSVQPYFYCDEE	NVSFTNRNYDLDCDSVQPYFYCDEE	10.0	3.0	-	-	4246_8:128750555-128750555 A>G_NVSFTNRNYDLDCDSVQPYFYCDEE
17:35614716-35614716 T>A	1.0	4246	COLON	-	-	-	-	ACACA	uc002hnm.3,p.S542C|uc002hnk.3,p.S464C|uc002hno.3,p.S579C|uc010cuz.3,p.S542C|NM_198834,p.S579C|NM_198837,p.S484C|NM_198836,p.S542C|ENST00000394406,p.S542C|uc002hnl.3,p.S484C|NM_198839,p.S542C|ENST00000353139,p.S579C|ENST00000360679,p.S484C|uc002hnn.3,p.S542C|ENST00000335166,p.S464C|NM_198838,p.S464C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay	uc010cuz.3	nonsynonymous SNV	exon14	c.A1624T	p.S542C	NFRSNKNVWGYFSVAAAGGLHEFAD	NFRSNKNVWGYFCVAAAGGLHEFAD	8.0	7.0	-	-	4246_17:35614716-35614716 T>A_NFRSNKNVWGYFCVAAAGGLHEFAD
17:21319129-21319129 G>A	0.0	4246	COLON	-	-	-	-	KCNJ12,KCNJ18	uc021tss.1,p.V159I|NM_001194958,p.V159I	protein_coding	uc021tss.1	nonsynonymous SNV	exon3	c.G475A	p.V159I	GLRCVTEECLVAVFMVVAQSIVGCI	GLRCVTEECLVAIFMVVAQSIVGCI	2.0	4.0	-	-	4246_17:21319129-21319129 G>A_GLRCVTEECLVAIFMVVAQSIVGCI
13:103703697-103703697 G>T	0.0	4246	COLON	-	-	-	-	SLC10A2	ENST00000245312,p.P224H|uc001vpy.4,p.P224H|NM_000452,p.P224H	protein_coding	uc001vpy.4	nonsynonymous SNV	exon4	c.C671A	p.P224H	GGILYQSAWIIAPKLWIIGTIFPVA	GGILYQSAWIIAHKLWIIGTIFPVA	1.0	9.0	-	-	4246_13:103703697-103703697 G>T_GGILYQSAWIIAHKLWIIGTIFPVA
17:21319129-21319129 G>A	0.0	4246	COLON	-	-	-	-	KCNJ12,KCNJ18	ENST00000583088,p.V159I|ENST00000331718,p.V159I|uc002gyv.1,p.V159I|NM_021012,p.V159I|uc021tst.1,p.V159I	protein_coding	uc021tst.1	nonsynonymous SNV	exon1	c.G475A	p.V159I	GLRCVTEECPVAVFMVVAQSIVGCI	GLRCVTEECPVAIFMVVAQSIVGCI	2.0	4.0	unscreened	-	4246_17:21319129-21319129 G>A_GLRCVTEECPVAIFMVVAQSIVGCI
19:30165127-30165127 G>C	0.0	4246	COLON	-	-	-	-	PLEKHF1	uc021ury.1,p.E127D|ENST00000592810,p.E127D|uc002nsi.4,p.E212D|uc002nsh.4,p.E127D|ENST00000436066,p.E127D|NM_024310,p.E127D	protein_coding	uc021ury.1	nonsynonymous SNV	exon1	c.G381C	p.E127D	SATERQEWISHIEECVRRQLRATGR	SATERQEWISHIDECVRRQLRATGR	6.0	1.0	-	-	4246_19:30165127-30165127 G>C_SATERQEWISHIDECVRRQLRATGR
11:5653734-5653734 T>C	0.0	4246	COLON	-	-	-	-	TRIM34,TRIM6-TRIM34	NM_021616,p.V58A|uc001mbf.3,p.V412A|uc001mbj.3,p.V58A|uc001mbh.3,p.V58A|ENST00000457787,p.V58A|NM_130390,p.V58A|ENST00000429814,p.V58A|ENST00000514226,p.V58A|NM_001003819,p.V412A|ENST00000354852,p.V412A|uc001mbi.3,p.V58A|NM_001003827,p.V58A	retained_intron, protein_coding, processed_transcript	uc001mbj.3	nonsynonymous SNV	exon1	c.T173C	p.V58A	AVTSMGGKSSCPVCGISYSFEHLQA	AVTSMGGKSSCPACGISYSFEHLQA	6.0	4.0	-	-	4246_11:5653734-5653734 T>C_AVTSMGGKSSCPACGISYSFEHLQA
15:25932921-25932921 A>T	0.0	4246	COLON	-	-	-	-	ATP10A	uc010ayu.3,p.L1074M|ENST00000356865,p.L1074M|NM_024490,p.L1074M|ENST00000555756,p.L103M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ayu.3	nonsynonymous SNV	exon16	c.T3220A	p.L1074M	FAVPKFRYLERLLILHGHWCYSRLA	FAVPKFRYLERLMILHGHWCYSRLA	3.0	3.0	-	-	4246_15:25932921-25932921 A>T_FAVPKFRYLERLMILHGHWCYSRLA
13:103411092-103411092 T>G	0.0	4246	COLON	-	-	-	-	CCDC168	NM_001146197,p.K64T|uc001vpm.3,p.K64T	protein_coding, processed_transcript	uc001vpm.3	nonsynonymous SNV	exon1	c.A191C	p.K64T	IILMKACASFWKKPTLPEKGSSDVQ	IILMKACASFWKTPTLPEKGSSDVQ	7.0	1.0	-	-	4246_13:103411092-103411092 T>G_IILMKACASFWKTPTLPEKGSSDVQ
11:94310576-94310576 T>G	0.0	4246	COLON	-	-	-	-	PIWIL4	uc001pfa.3,p.L144R|ENST00000545603,p.L75R|ENST00000543336,p.L75R|ENST00000299001,p.L144R|ENST00000446230,p.L117R|NM_152431,p.L144R	protein_coding, nonsense_mediated_decay	uc001pfa.3	nonsynonymous SNV	exon4	c.T431G	p.L144R	PDLASRRLRIALLYSHSELSNKAKA	PDLASRRLRIALRYSHSELSNKAKA	8.0	7.0	-	-	4246_11:94310576-94310576 T>G_PDLASRRLRIALRYSHSELSNKAKA
1:34052209-34052209 C>T	0.0	4246	COLON	-	-	ID=COSM4165160,COSM4165159;OCCURENCE=1(kidney)	-	CSMD2	uc001bxm.1,p.V2316I|ENST00000241312,p.V2318I|NM_001281956,p.V2316I|uc001bxn.1,p.V2318I|ENST00000373381,p.V2316I|NM_052896,p.V2318I	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxn.1	nonsynonymous SNV	exon47	c.G6952A	p.V2318I	VTENEEFNIGDIVRYRCLPGFTLVG	VTENEEFNIGDIIRYRCLPGFTLVG	3.0	6.0	-	-	4246_1:34052209-34052209 C>T_VTENEEFNIGDIIRYRCLPGFTLVG
15:54685318-54685318 A>T	0.0	4246	COLON	-	-	-	-	UNC13C	ENST00000545554,p.I1596F|NM_001080534,p.I1596F|ENST00000537900,p.I1594F|uc021sms.1,p.I1596F|uc002acl.3,p.I426F|ENST00000260323,p.I1596F	retained_intron, protein_coding	uc021sms.1	nonsynonymous SNV	exon17	c.A4786T	p.I1596F	PTTKNLDFWPQLITLMVTIIDEDKT	PTTKNLDFWPQLFTLMVTIIDEDKT	1.0	10.0	-	-	4246_15:54685318-54685318 A>T_PTTKNLDFWPQLFTLMVTIIDEDKT
7:121678925-121678925 C>-	0.0	4246	COLON	-	-	-	-	PTPRZ1	uc003vjz.3,p.N961fs|ENST00000393386,p.N1828fs|NM_002851,p.N1828fs|uc003vjy.3,p.N1828fs|NM_001206839,p.N961fs|uc011knt.2,p.N968fs|NM_001206838,p.N968fs|ENST00000449182,p.N961fs	retained_intron, protein_coding, processed_transcript	uc011knt.2	frameshift deletion	exon19	c.2904delC	p.N968fs	WEHNVEVIVMITNLVEKGRRKCDQY	WEHNVEVIVMITNSWRKEGENVISTGLPMGVRSTGTFWSLRRVCKCLPIIL	1.0	3.0	unscreened	-	4246_7:121678925-121678925 C>-_WEHNVEVIVMITNSWRKEGENVISTGLPMGVRSTGTFWSLRRVCKCLPIIL
4:81122642-81122642 C>A	1.0	4246	COLON	-	-	-	-	PRDM8	NM_001099403,p.L140I|ENST00000504452,p.L140I|uc010ijo.3,p.L140I|ENST00000339711,p.L140I|ENST00000515013,p.L140I|NM_020226,p.L140I|ENST00000415738,p.L140I|uc003hmb.4,p.L140I|uc003hmc.4,p.L140I	protein_coding, processed_transcript	uc010ijo.3	nonsynonymous SNV	exon7	c.C418A	p.L140I	VWYGKELTELLLLCPSRSHNKMNGS	VWYGKELTELLLICPSRSHNKMNGS	2.0	8.0	-	-	4246_4:81122642-81122642 C>A_VWYGKELTELLLICPSRSHNKMNGS
19:54403680-54403680 G>A	0.0	4246	COLON	-	-	ID=COSM1000933,COSM1000934;OCCURENCE=1(endometrium)	-	PRKCG	uc002qcq.1,p.A461T|uc010yeh.1,p.A348T|ENST00000540413,p.A461T|ENST00000263431,p.A461T|NM_002739,p.A461T|ENST00000542049,p.A348T|uc010yeg.1,p.A461T	protein_coding	uc010yeh.1	nonsynonymous SNV	exon11	c.G1042A	p.A348T	LGKFKEPHAAFYAAEIAIGLFFLHN	LGKFKEPHAAFYTAEIAIGLFFLHN	1.0	5.0	-	-	4246_19:54403680-54403680 G>A_LGKFKEPHAAFYTAEIAIGLFFLHN
3:93845291-93845291 A>G	1.0	4246	COLON	-	-	-	-	NSUN3	uc003drl.1,p.Y327C|ENST00000314622,p.Y327C|NM_022072,p.Y327C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003drl.1	nonsynonymous SNV	exon6	c.A980G	p.Y327C	VIPDKGKAWGPMYVAKLKKSWSTGK	VIPDKGKAWGPMCVAKLKKSWSTGK	7.0	8.0	-	-	4246_3:93845291-93845291 A>G_VIPDKGKAWGPMCVAKLKKSWSTGK
8:121644686-121644686 T>G	0.0	4246	COLON	-	-	-	-	SNTB1	uc010mdg.3,p.K332Q|ENST00000517992,p.K332Q|ENST00000395601,p.K332Q|NM_021021,p.K332Q|uc003ype.3,p.K332Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc010mdg.3	nonsynonymous SNV	exon3	c.A994C	p.K332Q	SREIRHLGWLAEKVPGESKKQWKPA	SREIRHLGWLAEQVPGESKKQWKPA	8.0	2.0	-	-	4246_8:121644686-121644686 T>G_SREIRHLGWLAEQVPGESKKQWKPA
1:158670233-158670233 C>A	0.0	4246	COLON	-	-	-	-	OR6K2	uc001fsu.1,p.E70D|ENST00000359610,p.E70D|NM_001005279,p.E70D	protein_coding	uc001fsu.1	nonsynonymous SNV	exon1	c.G210T	p.E70D	PMYTFISALSFLEIWYTTATIPKML	PMYTFISALSFLDIWYTTATIPKML	1.0	8.0	-	-	4246_1:158670233-158670233 C>A_PMYTFISALSFLDIWYTTATIPKML
7:42007382-42007382 G>A	0.0	4246	COLON	-	-	-	-	GLI3	ENST00000395925,p.P748L|uc011kbh.2,p.P748L|uc011kbg.2,p.P689L|NM_000168,p.P748L	retained_intron, protein_coding, processed_transcript	uc011kbh.2	nonsynonymous SNV	exon14	c.C2243T	p.P748L	GSIGDLSAIDETPIMDSTISTATTA	GSIGDLSAIDETLIMDSTISTATTA	2.0	1.0	-	-	4246_7:42007382-42007382 G>A_GSIGDLSAIDETLIMDSTISTATTA
8:87638300-87638300 C>T	0.0	4246	COLON	-	-	ID=COSM3716089;OCCURENCE=1(upper_aerodigestive_tract)	-	CNGB3	uc003ydx.3,p.D497N|NM_019098,p.D497N|ENST00000320005,p.D497N|uc010maj.3,p.D359N	protein_coding, processed_transcript	uc010maj.3	nonsynonymous SNV	exon10	c.G1075A	p.D359N	YTWDSQRMLDESDLLKTLPTTVQLA	YTWDSQRMLDESNLLKTLPTTVQLA	3.0	6.0	-	-	4246_8:87638300-87638300 C>T_YTWDSQRMLDESNLLKTLPTTVQLA
2:165351021-165351021 G>A	0.0	4246	COLON	-	-	-	-	GRB14	NM_004490,p.R466W|ENST00000543549,p.R379W|ENST00000263915,p.R466W|uc002ucl.3,p.R466W|uc010zcv.2,p.R379W	retained_intron, protein_coding, processed_transcript	uc010zcv.2	nonsynonymous SNV	exon12	c.C1135T	p.R379W	IQQGLVDGVFLVRDSQSNPKTFVLS	IQQGLVDGVFLVWDSQSNPKTFVLS	6.0	1.0	-	-	4246_2:165351021-165351021 G>A_IQQGLVDGVFLVWDSQSNPKTFVLS
1:248436964-248436964 ->C	0.0	4246	COLON	-	-	-	-	OR2T33	uc010pzi.2,p.H51fs|ENST00000318021,p.H51fs|NM_001004695,p.H51fs	protein_coding	uc010pzi.2	frameshift insertion	exon1	c.152_153insG	p.H51fs	GNSLMILLIHWDHRLHTPMYFLLSQ	GNSLMILLIHWDQPAPHAHVLPPEPTFPHGHDAGFHHCAQNGG	1.0	10.0	unscreened	-	4246_1:248436964-248436964 ->C_GNSLMILLIHWDQPAPHAHVLPPEPTFPHGHDAGFHHCAQNGG
10:127417654-127417654 A>G	0.0	4246	COLON	-	-	-	-	EDRF1	ENST00000481600,p.N292S|NM_001202438,p.N292S|ENST00000368815,p.N292S|uc001liq.1,p.N292S|ENST00000356792,p.N292S|ENST00000419769,p.N292S	retained_intron, protein_coding, nonsense_mediated_decay	uc001liq.1	nonsynonymous SNV	exon7	c.A875G	p.N292S	SAPKEQNLITLFNDGEHSQGLKNDF	SAPKEQNLITLFSDGEHSQGLKNDF	7.0	10.0	-	-	4246_10:127417654-127417654 A>G_SAPKEQNLITLFSDGEHSQGLKNDF
6:49753694-49753694 G>T	0.0	4246	COLON	-	-	-	-	PGK2	NM_138733,p.L403M|ENST00000304801,p.L403M|uc003ozu.3,p.L403M	protein_coding	uc003ozu.3	nonsynonymous SNV	exon1	c.C1207A	p.L403M	HVSTGGGASLELLEGKILPGVEALS	HVSTGGGASLELMEGKILPGVEALS	1.0	4.0	-	-	4246_6:49753694-49753694 G>T_HVSTGGGASLELMEGKILPGVEALS
12:122392039-122392039 T>C	0.0	4246	COLON	-	-	-	-	WDR66	uc021rfh.1,p.L445P|ENST00000288912,p.L445P|NM_144668,p.L445P|NM_001178003,p.L445P|ENST00000397454,p.L445P|uc009zxk.3,p.L445P	retained_intron, protein_coding, processed_transcript	uc021rfh.1	nonsynonymous SNV	exon10	c.T1334C	p.L445P	SAPLLTEKTFNKLVGKFSQSIFHLN	SAPLLTEKTFNKPVGKFSQSIFHLN	7.0	9.0	unscreened	-	4246_12:122392039-122392039 T>C_SAPLLTEKTFNKPVGKFSQSIFHLN
8:128750555-128750555 A>G	1.0	4246	COLON	-	-	-	1	MYC	ENST00000520751,p.T5A	protein_coding	ENST00000520751	nonsynonymous SNV	exon2	c.A13G	p.T5A	MTSTTTRCSRISTATRR	MTSTATRCSRISTATRR	10.0	3.0	-	-	4246_8:128750555-128750555 A>G_MTSTATRCSRISTATRR
1:196706673-196706673 G>C	0.0	4246	COLON	-	-	-	-	CFH	NM_000186,p.E889Q|ENST00000367429,p.E889Q|uc001gtj.4,p.E889Q	retained_intron, protein_coding, ambiguous_orf	uc001gtj.4	nonsynonymous SNV	exon17	c.G2665C	p.E889Q	EHGTINSSRSSQESYAHGTKLSYTC	EHGTINSSRSSQQSYAHGTKLSYTC	6.0	8.0	-	-	4246_1:196706673-196706673 G>C_EHGTINSSRSSQQSYAHGTKLSYTC
X:140785632-140785632 G>A	0.0	4246	COLON	-	-	-	-	SPANXC,SPANXD	NM_022661,p.P95L|ENST00000370515,p.P95L|uc004fbq.3,p.P95L|NM_032417,p.P95L	protein_coding	uc004fbq.3	nonsynonymous SNV	exon2	c.C284T	p.P95L	EEEEFMEIMVEIPAK	EEEEFMEIMVEILAK	1.0	3.0	-	-	4246_X:140785632-140785632 G>A_EEEEFMEIMVEILAK
7:75192367-75192367 A>C	0.0	4246	COLON	-	-	-	1	HIP1	uc003uds.2,p.F298V|ENST00000434438,p.F298V|uc011kfz.2,p.F298V|NM_001243198,p.F298V|ENST00000336926,p.F298V|NM_005338,p.F298V	retained_intron, protein_coding, processed_transcript	uc011kfz.2	nonsynonymous SNV	exon11	c.T892G	p.F298V	IQIPQLPENPPNFLRASALSEHISP	IQIPQLPENPPNVLRASALSEHISP	7.0	5.0	-	-	4246_7:75192367-75192367 A>C_IQIPQLPENPPNVLRASALSEHISP
1:150053515-150053515 G>A	0.0	4246	COLON	-	-	-	-	VPS45	uc009wlm.1,p.R236K|uc001etp.3,p.R260K|uc010pbs.2,p.R155K|NM_001279354,p.R224K|ENST00000419023,p.R191K|uc001etq.3,p.R80K|NM_007259,p.R260K|NM_001279353,p.R155K|NM_001279355,p.R137K|ENST00000535106,p.R191K|ENST00000369130,p.R260K|uc010pbq.2,p.R224K|ENST00000369128,p.R155K	protein_coding, processed_transcript	uc010pbs.2	nonsynonymous SNV	exon6	c.G464A	p.R155K	DLSRVPGISKDLREVVLSAENDEFY	DLSRVPGISKDLKEVVLSAENDEFY	9.0	6.0	-	-	4246_1:150053515-150053515 G>A_DLSRVPGISKDLKEVVLSAENDEFY
X:47774811-47774811 A>C	0.0	4246	COLON	-	-	-	-	ZNF81	NM_007137,p.S256R|ENST00000376954,p.S256R|uc010nhy.2,p.S256R|uc022bvq.1,p.S256R|ENST00000338637,p.S256R	protein_coding, processed_transcript	uc022bvq.1	nonsynonymous SNV	exon5	c.A766C	p.S256R	KFCERNQCGKVLSLKHSLSQNVKFP	KFCERNQCGKVLRLKHSLSQNVKFP	6.0	2.0	-	-	4246_X:47774811-47774811 A>C_KFCERNQCGKVLRLKHSLSQNVKFP
7:45124449-45124449 C>T	0.0	4246	COLON	-	-	-	-	NACAD	ENST00000490531,p.A444T|uc003tmt.3,p.A444T|NM_001146334,p.A444T	retained_intron, protein_coding	uc003tmt.3	nonsynonymous SNV	exon2	c.G1330A	p.A444T	KGLQAQDGTVSWAVEAAPQTSDRGA	KGLQAQDGTVSWTVEAAPQTSDRGA	3.0	4.0	unscreened	-	4246_7:45124449-45124449 C>T_KGLQAQDGTVSWTVEAAPQTSDRGA
14:24040436-24040436 C>-	0.0	4246	COLON	-	-	ID=COSM253010;OCCURENCE=15(large_intestine),1(pancreas),1(ovary),1(central_nervous_system)	-	JPH4	uc010tnr.1,p.A167fs|ENST00000544177,p.A167fs|ENST00000397118,p.A502fs|uc001wkr.2,p.A502fs|ENST00000356300,p.A502fs|NM_001146028,p.A502fs|uc001wkq.2,p.A502fs|NM_032452,p.A502fs	retained_intron, protein_coding	uc010tnr.1	frameshift deletion	exon3	c.499delG	p.A167fs	SSPKAWPEEWGGAGAQAEELAGYEA	SSPKAWPEEWGGQAHRQRN	1.0	10.0	unscreened	-	4246_14:24040436-24040436 C>-_SSPKAWPEEWGGQAHRQRN
9:43915558-43915558 G>C	0.0	4246	COLON	-	-	-	-	CNTNAP3B	NM_001201380,p.R1214P|ENST00000377564,p.R1214P|uc004ada.2,p.R1214P	protein_coding, processed_transcript, nonsense_mediated_decay	uc004ada.2	nonsynonymous SNV	exon22	c.G3641C	p.R1214P	RCAAGAASGSPARELAPRLAGGAGR	RCAAGAASGSPAPELAPRLAGGAGR	6.0	10.0	unscreened	-	4246_9:43915558-43915558 G>C_RCAAGAASGSPAPELAPRLAGGAGR
21:44840277-44840277 G>A	0.0	4246	COLON	-	-	-	-	SIK1	NM_173354,p.A270V|uc002zdf.2,p.A270V|ENST00000270162,p.A270V	retained_intron, protein_coding	uc002zdf.2	nonsynonymous SNV	exon8	c.C809T	p.A270V	MLVVDPARRITIAQIRQHRWMRAEP	MLVVDPARRITIVQIRQHRWMRAEP	5.0	1.0	-	-	4246_21:44840277-44840277 G>A_MLVVDPARRITIVQIRQHRWMRAEP
6:26598246-26598246 C>T	1.0	4246	COLON	-	-	-	-	ABT1	NM_013375,p.R116C|uc003nii.3,p.R116C|ENST00000274849,p.R116C	protein_coding	uc003nii.3	nonsynonymous SNV	exon2	c.C346T	p.R116C	DYTEGWVEFRDKRIAKRVAASLHNT	DYTEGWVEFRDKCIAKRVAASLHNT	8.0	6.0	-	-	4246_6:26598246-26598246 C>T_DYTEGWVEFRDKCIAKRVAASLHNT
12:25398281-25398281 C>T	1.0	4246	COLON	-	-	ID=COSM1140132,COSM532;OCCURENCE=103(haematopoietic_and_lymphoid_tissue),2(pleura),5(cervix),17(gastrointestinal_tract_(site_indeterminate)),2(peritoneum),118(lung),23(thyroid),1(bone),4(upper_aerodigestive_tract),3(oesophagus),1(central_nervous_system),43(stomach),29(pancreas),3(liver),5(urinary_tract),1(genital_tract),3337(large_intestine),21(biliary_tract),23(prostate),17(breast),3(skin),19(small_intestine),50(endometrium),35(ovary),36(soft_tissue)	1	KRAS	ENST00000311936,p.G13D|uc001rgq.1,p.G13D|NM_033360,p.G13D|uc001rgp.1,p.G13D|ENST00000557334,p.G13D|NM_004985,p.G13D|ENST00000256078,p.G13D|ENST00000556131,p.G13D	protein_coding	uc001rgq.1	nonsynonymous SNV	exon2	c.G38A	p.G13D	MTEYKLVVVGAGGVGKSALTIQLIQ	MTEYKLVVVGAGDVGKSALTIQLIQ	8.0	8.0	-	-	4246_12:25398281-25398281 C>T_MTEYKLVVVGAGDVGKSALTIQLIQ
4:187130267-187130267 G>T	0.0	4246	COLON	-	-	-	-	CYP4V2	NM_207352,p.G416C|ENST00000378802,p.G416C|uc003iyw.4,p.G416C	 processed_transcript, protein_coding,retained_intron	uc003iyw.4	nonsynonymous SNV	exon10	c.G1246T	p.G416C	EDCEVAGYRVLKGTEAVIIPYALHR	EDCEVAGYRVLKCTEAVIIPYALHR	5.0	6.0	-	-	4246_4:187130267-187130267 G>T_EDCEVAGYRVLKCTEAVIIPYALHR
4:5620363-5620363 T>C	0.0	4246	COLON	-	-	-	-	EVC2	ENST00000475313,p.R770G|NM_147127,p.R850G|uc003gij.3,p.R850G|NM_001166136,p.R770G|uc003gik.3,p.R770G|ENST00000310917,p.R770G|uc011bwb.2,p.R290G|ENST00000344938,p.R850G|ENST00000344408,p.R850G	protein_coding, nonsense_mediated_decay	uc011bwb.2	nonsynonymous SNV	exon16	c.A868G	p.R290G	SSVFSLSEEELLRMRQEVHGCFAQM	SSVFSLSEEELLGMRQEVHGCFAQM	3.0	1.0	-	-	4246_4:5620363-5620363 T>C_SSVFSLSEEELLGMRQEVHGCFAQM
6:152576063-152576063 T>G	0.0	4246	COLON	-	-	-	-	SYNE1	uc003qot.4,p.Q6403H|NM_033071,p.Q6403H|ENST00000265368,p.Q6474H|ENST00000448038,p.Q6403H|ENST00000341594,p.Q6086H|ENST00000423061,p.Q6403H|uc003qos.4,p.Q998H|ENST00000356820,p.Q998H|NM_182961,p.Q6474H|uc003qou.4,p.Q6474H|ENST00000367255,p.Q6474H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003qou.4	nonsynonymous SNV	exon104	c.A19422C	p.Q6474H	LGRLSLLDSVVNQRCHQMKERLQQI	LGRLSLLDSVVNHRCHQMKERLQQI	7.0	4.0	-	-	4246_6:152576063-152576063 T>G_LGRLSLLDSVVNHRCHQMKERLQQI
15:84651106-84651106 G>T	0.0	4246	COLON	-	-	-	-	ADAMTSL3	uc002bjz.4,p.R909M|ENST00000286744,p.R909M|NM_001301110,p.R909M|uc010bmt.1,p.R909M|NM_207517,p.R909M|ENST00000567476,p.R909M	retained_intron, protein_coding, processed_transcript	uc010bmt.1	nonsynonymous SNV	exon21	c.G2726T	p.R909M	QILSVQRVYIQTREEKRINLTIGSR	QILSVQRVYIQTMEEKRINLTIGSR	5.0	8.0	-	-	4246_15:84651106-84651106 G>T_QILSVQRVYIQTMEEKRINLTIGSR
13:46288110-46288110 G>A	0.0	4246	COLON	-	-	-	-	SPERT	NM_152719,p.R317Q|NM_001286341,p.R290Q|uc001vao.2,p.R281Q|ENST00000310521,p.R317Q|uc001van.1,p.R317Q|NM_001286342,p.R281Q|ENST00000378966,p.R281Q	protein_coding	uc001vao.2	nonsynonymous SNV	exon2	c.G842A	p.R281Q	SSRFEEPKGPPARQEDSKELRALRK	SSRFEEPKGPPAQQEDSKELRALRK	5.0	10.0	unscreened	-	4246_13:46288110-46288110 G>A_SSRFEEPKGPPAQQEDSKELRALRK
17:56345258-56345258 G>A	0.0	4246	COLON	-	-	-	-	LPO	uc010wns.2,p.R622Q|uc010dcq.3,p.R352Q|NM_001160102,p.R598Q|NM_006151,p.R681Q|uc002ivt.3,p.R681Q|ENST00000582328,p.R598Q|uc010dcp.3,p.R598Q|uc010dcr.3,p.R244Q|ENST00000543544,p.R622Q|ENST00000421678,p.R598Q|ENST00000262290,p.R681Q	retained_intron, protein_coding, nonsense_mediated_decay	uc010wns.2	nonsynonymous SNV	exon12	c.G1865A	p.R622Q	LVCDNTRITKVPRDPFWANSYPYDF	LVCDNTRITKVPQDPFWANSYPYDF	3.0	10.0	-	-	4246_17:56345258-56345258 G>A_LVCDNTRITKVPQDPFWANSYPYDF
13:99340519-99340519 A>T	0.0	4246	COLON	-	-	-	-	SLC15A1	uc001vno.3,p.Y556N|NM_005073,p.Y556N|ENST00000376503,p.Y556N	protein_coding	uc001vno.3	nonsynonymous SNV	exon20	c.T1666A	p.Y556N	NTFYLEFGSAYTYIVQRKNDSCPEV	NTFYLEFGSAYTNIVQRKNDSCPEV	3.0	5.0	-	-	4246_13:99340519-99340519 A>T_NTFYLEFGSAYTNIVQRKNDSCPEV
7:92761575-92761575 G>A	0.0	4246	COLON	-	-	-	-	SAMD9L	uc010lfb.1,p.T1237I|NM_152703,p.T1237I|uc010lfd.1,p.T1237I|uc010lfc.1,p.T1237I|uc003umj.1,p.T1237I|uc003umi.1,p.T1237I|ENST00000411955,p.T1237I|uc022ahh.1,p.T1237I|ENST00000437805,p.T1237I|uc003umk.1,p.T1237I|ENST00000318238,p.T1237I|uc003umh.1,p.T1237I	protein_coding, processed_transcript	uc022ahh.1	nonsynonymous SNV	exon1	c.C3710T	p.T1237I	KKHMVQFLSGKWTIPPDPRNECYLA	KKHMVQFLSGKWIIPPDPRNECYLA	5.0	6.0	-	-	4246_7:92761575-92761575 G>A_KKHMVQFLSGKWIIPPDPRNECYLA
5:13841871-13841871 C>T	0.0	4246	COLON	-	-	-	-	DNAH5	uc003jfd.2,p.R1805H|NM_001369,p.R1805H|ENST00000265104,p.R1805H	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon33	c.G5414A	p.R1805H	LEESQSSLHLVIRQAAANIQETGFQ	LEESQSSLHLVIHQAAANIQETGFQ	4.0	3.0	-	-	4246_5:13841871-13841871 C>T_LEESQSSLHLVIHQAAANIQETGFQ
20:42788700-42788700 G>A	0.0	4246	COLON	-	-	-	-	JPH2	ENST00000372980,p.R243C|NM_020433,p.R243C|uc002xli.1,p.R243C	protein_coding	uc002xli.1	nonsynonymous SNV	exon2	c.C727T	p.R243C	RRAESRTSVGSQRSRVSFLKSDLSS	RRAESRTSVGSQCSRVSFLKSDLSS	3.0	3.0	-	-	4246_20:42788700-42788700 G>A_RRAESRTSVGSQCSRVSFLKSDLSS
5:23527239-23527239 C>G	0.0	4246	COLON	-	-	-	-	PRDM9	ENST00000296682,p.T681S|NM_020227,p.T681S|uc003jgo.3,p.T681S	protein_coding	uc003jgo.3	nonsynonymous SNV	exon11	c.C2042G	p.T681S	CGRGFSWQSVLLTHQRTHTGEKPYV	CGRGFSWQSVLLSHQRTHTGEKPYV	2.0	10.0	-	-	4246_5:23527239-23527239 C>G_CGRGFSWQSVLLSHQRTHTGEKPYV
X:65822562-65822562 T>A	0.0	4246	COLON	-	-	-	-	EDA2R	NM_001199687,p.S144C|ENST00000396050,p.S144C|NM_001242310,p.S144C|uc004dwq.3,p.S144C|uc004dwr.3,p.S144C|NM_021783,p.S144C|ENST00000456230,p.S144C|ENST00000374719,p.S144C|uc004dws.3,p.S144C|uc004dwt.2,p.S144C|ENST00000450752,p.S144C|uc022byh.1,p.S144C|ENST00000253392,p.S144C	protein_coding	uc022byh.1	nonsynonymous SNV	exon4	c.A430T	p.S144C	VPPQEATLVALVSSLLVVFTLAFLG	VPPQEATLVALVCSLLVVFTLAFLG	2.0	5.0	-	-	4246_X:65822562-65822562 T>A_VPPQEATLVALVCSLLVVFTLAFLG
6:97053784-97053784 G>A	0.0	4246	COLON	-	-	-	-	FHL5	NM_020482,p.R114H|ENST00000326771,p.R114H|ENST00000541107,p.R114H|ENST00000450218,p.R114H|uc003pos.2,p.R114H|NM_001170807,p.R114H|uc003pot.2,p.R114H	protein_coding	uc003pot.2	nonsynonymous SNV	exon4	c.G341A	p.R114H	CFHCKRTIMPGSRKMEFKGNYWHET	CFHCKRTIMPGSHKMEFKGNYWHET	4.0	9.0	-	-	4246_6:97053784-97053784 G>A_CFHCKRTIMPGSHKMEFKGNYWHET
1:150530443-150530443 T>A	0.0	4246	COLON	-	-	-	-	ADAMTSL4	uc010pcg.2,p.S695T|uc001eux.3,p.S734T|uc001euw.3,p.S734T|uc009wlw.3,p.S757T|NM_001288607,p.S695T|ENST00000369038,p.S734T|ENST00000271643,p.S734T|NM_019032,p.S734T|NM_025008,p.S734T|ENST00000369041,p.S734T|NM_001288608,p.S757T|ENST00000369039,p.S757T	retained_intron, protein_coding, processed_transcript	uc010pcg.2	nonsynonymous SNV	exon14	c.T2083A	p.S695T	PCPPYWEAGEWTSCSRSCGPGTQHR	PCPPYWEAGEWTTCSRSCGPGTQHR	5.0	9.0	-	-	4246_1:150530443-150530443 T>A_PCPPYWEAGEWTTCSRSCGPGTQHR
11:1101090-1101090 G>A	0.0	4246	COLON	-	-	ID=COSM428397;OCCURENCE=1(breast)	-	MUC2	ENST00000441003,p.V2497I	protein_coding	ENST00000441003	nonsynonymous SNV	exon41	c.G7489A	p.V2497I	IICQPKRCSQKPVTHCVEDGTYLAT	IICQPKRCSQKPITHCVEDGTYLAT	3.0	8.0	-	-	4246_11:1101090-1101090 G>A_IICQPKRCSQKPITHCVEDGTYLAT
17:41957307-41957307 T>G	0.0	4246	COLON	-	-	-	-	MPP2	uc010wim.1,p.Y388S|ENST00000377184,p.Y416S|NM_001278381,p.Y399S|ENST00000269095,p.Y399S|uc010win.1,p.Y260S|NM_001278371,p.Y388S|NM_001278370,p.Y444S|uc002ieo.1,p.Y399S|NM_001278375,p.Y388S|uc002ien.1,p.Y416S|NM_001278372,p.Y423S|NM_001278373,p.Y388S|ENST00000536246,p.Y388S|NM_001278374,p.Y260S|ENST00000520305,p.Y260S|ENST00000461854,p.Y423S|uc010wio.1,p.Y388S|ENST00000523501,p.Y388S|NM_001278376,p.Y416S|ENST00000518766,p.Y444S|NM_005374,p.Y399S|uc010wip.1,p.Y444S	retained_intron, protein_coding, processed_transcript	uc010wip.1	nonsynonymous SNV	exon11	c.A1331C	p.Y444S	RRPKDSEREGQGYSFVSRGEMEADV	RRPKDSEREGQGSSFVSRGEMEADV	2.0	2.0	-	-	4246_17:41957307-41957307 T>G_RRPKDSEREGQGSSFVSRGEMEADV
1:75037109-75037109 C>A	0.0	4246	COLON	-	-	-	-	ERICH3	ENST00000326665,p.A1429S|uc001dgg.3,p.A1429S|NM_001002912,p.A1429S	protein_coding, processed_transcript	uc001dgg.3	nonsynonymous SNV	exon14	c.G4285T	p.A1429S	AAEEMTVTYTTEAGVGTPGALERKT	AAEEMTVTYTTESGVGTPGALERKT	2.0	4.0	-	-	4246_1:75037109-75037109 C>A_AAEEMTVTYTTESGVGTPGALERKT
6:159655394-159655394 C>T	0.0	4246	COLON	-	-	-	-	FNDC1	uc010kjv.3,p.R1284C|NM_032532,p.R1284C|ENST00000297267,p.R1284C|uc010kjw.1,p.R1169C|ENST00000340366,p.R1221C	protein_coding, processed_transcript	uc010kjw.1	nonsynonymous SNV	exon9	c.C3505T	p.R1169C	VAGTHPWPQYTTRAPPGHFSTTPML	VAGTHPWPQYTTCAPPGHFSTTPML	2.0	9.0	-	-	4246_6:159655394-159655394 C>T_VAGTHPWPQYTTCAPPGHFSTTPML
9:18929038-18929038 C>G	0.0	4246	COLON	-	-	-	-	FAM154A	uc003zni.2,p.W146S|NM_001287049,p.W81S|ENST00000380534,p.W146S|NM_153707,p.W146S	protein_coding, processed_transcript	uc003zni.2	nonsynonymous SNV	exon4	c.G437C	p.W146S	ECLPTYKADYLPWNQPRREPLRLEH	ECLPTYKADYLPSNQPRREPLRLEH	1.0	1.0	-	-	4246_9:18929038-18929038 C>G_ECLPTYKADYLPSNQPRREPLRLEH
X:100749667-100749667 C>T	0.0	4246	COLON	-	-	-	-	ARMCX4	uc031tkc.1,p.R2031C|NM_001256155,p.R2031C|ENST00000423738,p.R2031C|uc031tkd.1,p.R2031C	protein_coding, processed_transcript, nonsense_mediated_decay	uc031tkd.1	nonsynonymous SNV	exon1	c.C6091T	p.R2031C	TRTGEKTRPWSCRCKHEANMDPRDL	TRTGEKTRPWSCCCKHEANMDPRDL	6.0	1.0	-	-	4246_X:100749667-100749667 C>T_TRTGEKTRPWSCCCKHEANMDPRDL
8:104240293-104240293 G>C	0.0	4246	COLON	-	-	-	-	BAALC	NM_024812,p.R135T|ENST00000309982,p.R135T|uc003yld.3,p.R135T|ENST00000297574,p.R170T	protein_coding, processed_transcript	uc003yld.3	nonsynonymous SNV	exon3	c.G404C	p.R135T	TINVTDSIQQMDRSRRITKNCVN	TINVTDSIQQMDTSRRITKNCVN	6.0	1.0	-	-	4246_8:104240293-104240293 G>C_TINVTDSIQQMDTSRRITKNCVN
7:100336109-100336109 T>A	0.0	4246	COLON	-	-	-	-	ZAN	ENST00000542585,p.F213L|ENST00000538115,p.F213L|uc003uwk.3,p.F213L|uc003uwj.3,p.F213L|ENST00000546292,p.F213L	protein_coding, polymorphic_pseudogene	uc003uwk.3	nonsynonymous SNV	exon7	c.T639A	p.F213L	SCNRVCMMQTCSFDIPNDLCDWTWI	SCNRVCMMQTCSLDIPNDLCDWTWI	1.0	2.0	-	-	4246_7:100336109-100336109 T>A_SCNRVCMMQTCSLDIPNDLCDWTWI
16:1270330-1270330 G>A	0.0	4246	COLON	-	-	-	-	CACNA1H	uc002ckt.3,p.R2127H|ENST00000565831,p.R2127H|uc002ckv.3,p.R822H|uc002cku.3,p.R828H|ENST00000358590,p.R2127H|NM_001005407,p.R2127H|NM_021098,p.R2133H|uc002cks.3,p.R2133H|ENST00000348261,p.R2133H|uc010brj.3,p.R844H	retained_intron, protein_coding	uc010brj.3	nonsynonymous SNV	exon17	c.G2531A	p.R844H	EASPVAGGERDLRRLYSVDAQGFLD	EASPVAGGERDLHRLYSVDAQGFLD	4.0	6.0	-	-	4246_16:1270330-1270330 G>A_EASPVAGGERDLHRLYSVDAQGFLD
1:155006855-155006855 T>A	0.0	4246	COLON	-	-	-	-	DCST1	uc010per.2,p.N27K|ENST00000525273,p.N27K	retained_intron, protein_coding, nonsense_mediated_decay	uc010per.2	nonsynonymous SNV	exon3	c.T81A	p.N27K	SPASIHLQALNPNEPHPRQKSGLLS	SPASIHLQALNPKEPHPRQKSGLLS	3.0	1.0	-	-	4246_1:155006855-155006855 T>A_SPASIHLQALNPKEPHPRQKSGLLS
2:175213643-175213643 T>C	1.0	4246	COLON	-	-	-	-	CIR1	uc002uim.3,p.K312R|ENST00000342016,p.K312R|uc002uin.3,p.K186R|NM_004882,p.K312R	retained_intron, protein_coding, nonsense_mediated_decay	uc002uin.3	nonsynonymous SNV	exon11	c.A557G	p.K186R	SGHNNSDSEEKDKSKKRKLHEELSS	SGHNNSDSEEKDRSKKRKLHEELSS	10.0	9.0	-	-	4246_2:175213643-175213643 T>C_SGHNNSDSEEKDRSKKRKLHEELSS
X:152815031-152815031 C>A	0.0	4246	COLON	-	-	-	1	ATP2B3	ENST00000370181,p.S458Y|ENST00000263519,p.S472Y|NM_021949,p.S472Y|uc004fhs.1,p.S472Y|ENST00000359149,p.S472Y|ENST00000370186,p.S458Y|NM_001001344,p.S472Y|ENST00000349466,p.S472Y|uc004fht.1,p.S472Y|ENST00000393842,p.S458Y	protein_coding, processed_transcript	uc004fht.1	nonsynonymous SNV	exon9	c.C1415A	p.S472Y	ACETMGNATAICSDKTGTLTTNRMT	ACETMGNATAICYDKTGTLTTNRMT	3.0	3.0	-	-	4246_X:152815031-152815031 C>A_ACETMGNATAICYDKTGTLTTNRMT
X:9622268-9622268 C>G	0.0	4246	COLON	-	-	-	-	TBL1X	ENST00000217964,p.H39Q|NM_005647,p.H39Q|NM_001139466,p.H39Q|uc010ndq.3,p.H39Q|uc004csr.3,p.H39Q|ENST00000452824,p.H39Q|ENST00000441088,p.H39Q|ENST00000407597,p.H39Q	protein_coding, processed_transcript	uc010ndq.3	nonsynonymous SNV	exon5	c.C117G	p.H39Q	HFQRLRGREGGSHFINTSSPRGEAK	HFQRLRGREGGSQFINTSSPRGEAK	5.0	7.0	-	-	4246_X:9622268-9622268 C>G_HFQRLRGREGGSQFINTSSPRGEAK
6:166844023-166844023 C>T	0.0	4246	COLON	-	-	ID=COSM595032,COSM595033;OCCURENCE=1(lung)	-	RPS6KA2	NM_001006932,p.R508Q|uc003qvb.1,p.R500Q|uc003qvd.1,p.R525Q|ENST00000265678,p.R500Q|uc003qvc.1,p.R508Q|ENST00000510118,p.R525Q|ENST00000405189,p.R411Q|uc010kkl.1,p.R411Q|ENST00000481261,p.R411Q|ENST00000503859,p.R508Q|uc011ego.1,p.R411Q|NM_021135,p.R500Q	protein_coding, processed_transcript	uc011ego.1	nonsynonymous SNV	exon16	c.G1232A	p.R411Q	LMRGGELLDRILRQRYFSEREASDV	LMRGGELLDRILQQRYFSEREASDV	6.0	7.0	-	-	4246_6:166844023-166844023 C>T_LMRGGELLDRILQQRYFSEREASDV
21:47349844-47349844 T>G	0.0	4246	COLON	-	-	-	-	PCBP3	NM_020528,p.L244R|ENST00000449640,p.L244R|uc002zhp.2,p.L244R|ENST00000400310,p.L244R|ENST00000400305,p.L195R|uc002zhq.2,p.L244R|ENST00000400314,p.L244R|uc010gqb.3,p.L244R	retained_intron, protein_coding, processed_transcript	uc010gqb.3	nonsynonymous SNV	exon12	c.T731G	p.L244R	QYAIPHPDQLTKLHQLAMQQTPFPP	QYAIPHPDQLTKRHQLAMQQTPFPP	3.0	2.0	-	-	4246_21:47349844-47349844 T>G_QYAIPHPDQLTKRHQLAMQQTPFPP
X:153128279-153128279 C>A	0.0	4246	COLON	-	-	-	-	L1CAM	uc004fjc.4,p.D1201Y|ENST00000361981,p.D1196Y|ENST00000370057,p.D1205Y|uc004fjb.4,p.D1205Y|NM_000425,p.D1205Y|ENST00000370060,p.D1205Y|ENST00000543994,p.D1207Y|NM_001143963,p.D1196Y|NM_001278116,p.D1205Y|ENST00000361699,p.D1201Y|uc031tks.1,p.D1205Y|NM_024003,p.D1201Y|ENST00000370058,p.D101Y|ENST00000538883,p.D1203Y|uc010nuo.4,p.D1196Y|ENST00000370055,p.D1196Y	retained_intron, protein_coding, processed_transcript	uc031tks.1	nonsynonymous SNV	exon29	c.G3613T	p.D1205Y	PSLNGDIKPLGSDDSLADYGGSVDV	PSLNGDIKPLGSYDSLADYGGSVDV	1.0	8.0	-	-	4246_X:153128279-153128279 C>A_PSLNGDIKPLGSYDSLADYGGSVDV
21:47349844-47349844 T>G	0.0	4246	COLON	-	-	-	-	PCBP3	ENST00000400308,p.L218R|NM_001130141,p.L218R|ENST00000400309,p.L243R|ENST00000400304,p.L234R|uc002zht.2,p.L234R|uc002zhs.2,p.L218R	retained_intron, protein_coding, processed_transcript	uc002zht.2	nonsynonymous SNV	exon9	c.T701G	p.L234R	GQYAIPHPDLTKLHQLAMQQTPFPP	GQYAIPHPDLTKRHQLAMQQTPFPP	3.0	2.0	-	-	4246_21:47349844-47349844 T>G_GQYAIPHPDLTKRHQLAMQQTPFPP
21:46117463-46117463 A>T	0.0	4246	COLON	-	-	-	-	KRTAP10-12	NM_198699,p.K116M|uc002zfw.1,p.K116M|ENST00000400365,p.K116M	protein_coding	uc002zfw.1	nonsynonymous SNV	exon1	c.A347T	p.K116M	CCVPVCCKTVCCKPVCCMPVCCGPS	CCVPVCCKTVCCMPVCCMPVCCGPS	1.0	7.0	-	-	4246_21:46117463-46117463 A>T_CCVPVCCKTVCCMPVCCMPVCCGPS
16:69996951-69996951 C>A	0.0	4246	COLON	-	-	-	-	CLEC18A	ENST00000568461,p.N428K|uc002eya.4,p.N428K|ENST00000449317,p.N437K|uc010vlo.3,p.N428K|ENST00000393701,p.N428K|NM_001136214,p.N428K|ENST00000288040,p.N428K|NM_182619,p.N428K|uc031qwv.1,p.N428K|uc002exz.4,p.N428K|NM_001271197,p.N428K	retained_intron, protein_coding	uc031qwv.1	nonsynonymous SNV	exon12	c.C1284A	p.N428K	AFNWNDQRCKTRNRYICQFAQEHIS	AFNWNDQRCKTRKRYICQFAQEHIS	5.0	2.0	-	-	4246_16:69996951-69996951 C>A_AFNWNDQRCKTRKRYICQFAQEHIS
1:159277714-159277714 A>C	0.0	4246	COLON	-	-	-	-	FCER1A	NM_002001,p.N256H|ENST00000368115,p.N256H|uc001ftq.3,p.N256H|ENST00000368114,p.N223H	protein_coding	uc001ftq.3	nonsynonymous SNV	exon6	c.A766C	p.N256H	RLLNPHPKPNPKNN	RLLNPHPKPNPKHN	4.0	2.0	-	-	4246_1:159277714-159277714 A>C_RLLNPHPKPNPKHN
11:56949630-56949630 G>A	0.0	4246	COLON	-	-	-	-	LRRC55	uc001njl.2,p.R88H|NM_001005210,p.R88H|ENST00000497933,p.R88H	protein_coding	uc001njl.2	nonsynonymous SNV	exon1	c.G263A	p.R88H	DAGTSCPVLCTCRNQVVDCSSQRLF	DAGTSCPVLCTCHNQVVDCSSQRLF	1.0	6.0	-	-	4246_11:56949630-56949630 G>A_DAGTSCPVLCTCHNQVVDCSSQRLF
1:145356731-145356731 A>G	0.0	4246	COLON	-	-	-	-	NBPF25P	ENST00000342960,p.D2878G|uc021ouo.1,p.D570G|uc021oul.2,p.D2878G	protein_coding, processed_transcript	uc021ouo.1	nonsynonymous SNV	exon20	c.A1709G	p.D570G	LGLALDVDRIKKDQEEEEDQGPPCP	LGLALDVDRIKKGQEEEEDQGPPCP	8.0	2.0	-	-	4246_1:145356731-145356731 A>G_LGLALDVDRIKKGQEEEEDQGPPCP
11:6662587-6662587 G>C	0.0	4246	COLON	-	-	-	-	DCHS1	uc001mem.1,p.S86R|NM_003737,p.S86R|ENST00000299441,p.S86R	protein_coding	uc001mem.1	nonsynonymous SNV	exon2	c.C258G	p.S86R	APLMYFISAQEGSGVGTDLAIDEHS	APLMYFISAQEGRGVGTDLAIDEHS	4.0	4.0	-	-	4246_11:6662587-6662587 G>C_APLMYFISAQEGRGVGTDLAIDEHS
2:198571450-198571450 C>T	0.0	4246	COLON	-	-	-	-	MARS2	uc002uuq.3,p.R441C|NM_138395,p.R441C|ENST00000282276,p.R441C	protein_coding	uc002uuq.3	nonsynonymous SNV	exon1	c.C1321T	p.R441C	FPSEPGLVGPSVRAQAEDYALVSAV	FPSEPGLVGPSVCAQAEDYALVSAV	4.0	8.0	-	-	4246_2:198571450-198571450 C>T_FPSEPGLVGPSVCAQAEDYALVSAV
19:53554077-53554077 A>G	0.0	4246	COLON	-	-	-	-	ERVV-2	uc031rmt.1,p.R525G|NM_001191055,p.R525G|ENST00000601417,p.R525G|uc021uzd.1,p.R525G	protein_coding	uc031rmt.1	nonsynonymous SNV	exon1	c.A1573G	p.R525G	YKHISPLDASGQRFRETMEEFSL	YKHISPLDASGQGFRETMEEFSL	1.0	3.0	-	-	4246_19:53554077-53554077 A>G_YKHISPLDASGQGFRETMEEFSL
1:182442751-182442751 A>C	0.0	4246	COLON	-	-	-	-	RGSL1	ENST00000443996,p.T204P|uc009wxw.3,p.T169P|NM_001137669,p.T169P|uc021pfx.1,p.T204P|ENST00000294854,p.T169P|ENST00000542961,p.T204P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pfx.1	nonsynonymous SNV	exon7	c.A610C	p.T204P	LLNLSIWHPNQSTTRREILSHMQKV	LLNLSIWHPNQSPTRREILSHMQKV	1.0	4.0	-	-	4246_1:182442751-182442751 A>C_LLNLSIWHPNQSPTRREILSHMQKV
1:92442634-92442634 C>T	0.0	4246	COLON	-	-	-	-	BRDT	ENST00000370389,p.T145I|uc001dom.4,p.T218I|ENST00000426141,p.T218I|NM_001726,p.T218I|uc010otb.2,p.T172I|uc010osz.2,p.T222I|uc001dok.4,p.T218I|NM_001242806,p.T222I|ENST00000402388,p.T218I|uc010ota.2,p.T172I|NM_001242810,p.T145I|ENST00000399546,p.T218I|NM_207189,p.T218I|ENST00000362005,p.T218I|uc001dol.4,p.T218I|NM_001242808,p.T172I|NM_001242807,p.T172I|NM_001242805,p.T218I|uc009wdf.3,p.T145I|ENST00000394530,p.T172I	protein_coding, processed_transcript	uc010otb.2	nonsynonymous SNV	exon5	c.C515T	p.T172I	QVTKGVKRKADTTTPATSAVKASSE	QVTKGVKRKADTITPATSAVKASSE	2.0	7.0	-	-	4246_1:92442634-92442634 C>T_QVTKGVKRKADTITPATSAVKASSE
17:7942511-7942511 C>A	0.0	4246	COLON	-	-	-	-	ALOX15B	uc002gjw.3,p.A13D|uc002gjv.3,p.A13D|ENST00000572022,p.A13D|NM_001039130,p.A13D|ENST00000380183,p.A13D|NM_001141,p.A13D|ENST00000573359,p.A13D|uc002gju.3,p.A13D|uc010vun.2,p.A13D|NM_001039131,p.A13D|ENST00000380173,p.A13D	retained_intron, protein_coding	uc010vun.2	nonsynonymous SNV	exon1	c.C38A	p.A13D	MAEFRVRVSTGEAFGAGTWDKVSVS	MAEFRVRVSTGEDFGAGTWDKVSVS	4.0	7.0	-	-	4246_17:7942511-7942511 C>A_MAEFRVRVSTGEDFGAGTWDKVSVS
2:1982953-1982953 A>G	0.0	4246	COLON	-	-	-	-	MYT1L	ENST00000428368,p.Y46H|ENST00000399161,p.Y46H|uc002qxd.3,p.Y46H|NM_015025,p.Y46H|uc002qxe.3,p.Y46H	retained_intron, protein_coding, processed_transcript	uc002qxe.3	nonsynonymous SNV	exon8	c.T136C	p.Y46H	PGCDGSGHVSGKYARHRSVYGCPLA	PGCDGSGHVSGKHARHRSVYGCPLA	4.0	3.0	-	-	4246_2:1982953-1982953 A>G_PGCDGSGHVSGKHARHRSVYGCPLA
11:21592358-21592358 A>C	0.0	4246	COLON	-	-	-	-	NELL1	uc001mqh.3,p.S222R|ENST00000325319,p.S620R|NM_201551,p.S630R|uc001mqf.3,p.S630R|uc010rdo.2,p.S620R|uc001mqe.3,p.S677R|NM_001288714,p.S620R|ENST00000532434,p.S630R|NM_001288713,p.S705R|uc010rdp.2,p.S390R|ENST00000357134,p.S677R|NM_006157,p.S677R|uc009yid.3,p.S705R|ENST00000298925,p.S705R	retained_intron, protein_coding, processed_transcript	uc010rdp.2	nonsynonymous SNV	exon14	c.A1168C	p.S390R	FCRRTACDCQNPSADLFCCPECDTR	FCRRTACDCQNPRADLFCCPECDTR	1.0	4.0	-	-	4246_11:21592358-21592358 A>C_FCRRTACDCQNPRADLFCCPECDTR
7:121678927-121678927 T>A	0.0	4246	COLON	-	-	-	-	PTPRZ1	ENST00000449182,p.L962H|NM_001206838,p.L969H|uc003vjy.3,p.L1829H|NM_002851,p.L1829H|uc003vjz.3,p.L962H|ENST00000393386,p.L1829H|NM_001206839,p.L962H|uc011knt.2,p.L969H	retained_intron, protein_coding, processed_transcript	uc011knt.2	nonsynonymous SNV	exon19	c.T2906A	p.L969H	EHNVEVIVMITNLVEKGRRKCDQYW	EHNVEVIVMITNHVEKGRRKCDQYW	1.0	5.0	unscreened	-	4246_7:121678927-121678927 T>A_EHNVEVIVMITNHVEKGRRKCDQYW
3:65342655-65342655 C>T	1.0	4246	COLON	-	-	-	-	MAGI1	ENST00000402939,p.A1263T|uc003dmn.3,p.A1263T|NM_001033057,p.A1263T	retained_intron, protein_coding, processed_transcript	uc003dmn.3	nonsynonymous SNV	exon23	c.G3787A	p.A1263T	HKSSPHGEKRAHARDPKGSREYSRQ	HKSSPHGEKRAHTRDPKGSREYSRQ	8.0	7.0	-	-	4246_3:65342655-65342655 C>T_HKSSPHGEKRAHTRDPKGSREYSRQ
19:9085781-9085781 C>T	0.0	4246	COLON	-	-	-	2	MUC16	NM_024690,p.A2012T|ENST00000397910,p.A2012T|uc002mkp.3,p.A2012T	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.G6034A	p.A2012T	QSTPYVNSVAVSASPTHENSVSSGS	QSTPYVNSVAVSTSPTHENSVSSGS	2.0	6.0	-	-	4246_19:9085781-9085781 C>T_QSTPYVNSVAVSTSPTHENSVSSGS
3:142682162-142682162 T>G	0.0	4246	COLON	-	-	-	-	PAQR9	NM_198504,p.Q6P|ENST00000340634,p.Q6P|uc003evg.3,p.Q6P	protein_coding	uc003evg.3	nonsynonymous SNV	exon1	c.A17C	p.Q6P	MPRRLQPRGAGTKGPPAP	MPRRLPPRGAGTKGPPAP	1.0	7.0	-	-	4246_3:142682162-142682162 T>G_MPRRLPPRGAGTKGPPAP
2:74642085-74642085 C>T	1.0	4246	COLON	-	-	-	-	C2orf81	NM_001145054,p.G380R|ENST00000290390,p.G380R|ENST00000517883,p.G312R|uc010yrq.1,p.G380R	protein_coding	uc010yrq.1	nonsynonymous SNV	exon4	c.G1138A	p.G380R	PDSQTRPLEAYRGRQRGEKTKARAE	PDSQTRPLEAYRRRQRGEKTKARAE	5.0	6.0	-	-	4246_2:74642085-74642085 C>T_PDSQTRPLEAYRRRQRGEKTKARAE
19:56163804-56163804 G>A	1.0	4252	COLORECTAL	-	-	-	-	CCDC106	ENST00000591241,p.A144T|uc002qlr.3,p.A179T|uc021vcd.1,p.A179T|ENST00000586790,p.A179T|uc002qls.3,p.A179T|ENST00000588740,p.A179T|ENST00000591578,p.A179T|uc021vcc.1,p.A179T|NM_013301,p.A179T|ENST00000308964,p.A179T	retained_intron, protein_coding	uc021vcd.1	nonsynonymous SNV	exon6	c.G535A	p.A179T	KPKARERQRVKDADGVLCRYKKILG	KPKARERQRVKDTDGVLCRYKKILG	7.0	9.0	-	-	4252_19:56163804-56163804 G>A_KPKARERQRVKDTDGVLCRYKKILG
3:47048798-47048798 A>C	1.0	4252	COLORECTAL	-	-	-	-	NBEAL2	uc010hjm.2,p.N1808T|uc010hjn.2,p.N797T|ENST00000383740,p.N680T|uc003cqp.3,p.N2431T|ENST00000450053,p.N2431T|ENST00000292309,p.N2247T|NM_015175,p.N2431T	retained_intron, protein_coding, nonsense_mediated_decay	uc010hjn.2	nonsynonymous SNV	exon16	c.A2390C	p.N797T	THSWLPYDRNISNYFSFSKDPTMGS	THSWLPYDRNISTYFSFSKDPTMGS	9.0	5.0	-	-	4252_3:47048798-47048798 A>C_THSWLPYDRNISTYFSFSKDPTMGS
12:110029130-110029130 G>A	1.0	4252	COLORECTAL	-	-	-	-	MVK	uc021rdo.1,p.A285T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021rdo.1	nonsynonymous SNV	exon8	c.G853A	p.A285T	LECERVLGEMGEAPAPEQYLVLEVR	LECERVLGEMGETPAPEQYLVLEVR	9.0	10.0	unscreened	-	4252_12:110029130-110029130 G>A_LECERVLGEMGETPAPEQYLVLEVR
12:110029130-110029130 G>A	1.0	4252	COLORECTAL	-	-	-	-	MVK	uc009zvk.3,p.A285T|ENST00000541384,p.A91T|uc010sxr.2,p.A233T|ENST00000539575,p.A233T|ENST00000228510,p.A285T|ENST00000392727,p.A233T|uc001toy.4,p.A285T|NM_001114185,p.A285T|NM_000431,p.A285T|uc001toz.4,p.A91T|NM_001301182,p.A233T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sxr.2	nonsynonymous SNV	exon8	c.G697A	p.A233T	LECERVLGEMGEAPAPEQYLVLEEL	LECERVLGEMGETPAPEQYLVLEEL	9.0	10.0	-	-	4252_12:110029130-110029130 G>A_LECERVLGEMGETPAPEQYLVLEEL
16:24981867-24981874 ATATTTTG>-	1.0	4252	COLORECTAL	-	-	-	-	ARHGAP17	ENST00000571480,p.Q76fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000571480	frameshift deletion	exon4	c.226_233del	p.Q76fs	RRHKKLPLTALAQNMQEASTQLEDS	RRHKKLPLTALAARSIDSAGRLSPGMLETCGDAENQLALELSQHEVFVEKEIVDPLYGI	9.0	3.0	-	-	4252_16:24981867-24981874 ATATTTTG>-_RRHKKLPLTALAARSIDSAGRLSPGMLETCGDAENQLALELSQHEVFVEKEIVDPLYGI
17:73227673-73227673 G>A	1.0	4252	COLORECTAL	-	-	-	-	NUP85	uc010wrv.1,p.G349D|ENST00000579324,p.G283D|ENST00000579298,p.G350D|NM_024844,p.G395D|ENST00000541827,p.G349D|ENST00000245544,p.G395D|ENST00000447371,p.G227D|uc002jng.1,p.G395D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wrv.1	nonsynonymous SNV	exon12	c.G1046A	p.G349D	HCKLLQSHNLYFGSNMREFLLLEYA	HCKLLQSHNLYFDSNMREFLLLEYA	10.0	10.0	CD8	-	4252_17:73227673-73227673 G>A_HCKLLQSHNLYFDSNMREFLLLEYA
6:76385675-76385675 C>A	1.0	4252	COLORECTAL	-	-	-	-	SENP6	uc003pif.1,p.A400E|uc003pie.4,p.A502E|uc003pid.4,p.A509E|NM_001100409,p.A502E|ENST00000370010,p.A502E|ENST00000327284,p.A502E|ENST00000424947,p.A399E|ENST00000447266,p.A509E|NM_015571,p.A509E|ENST00000370014,p.A509E|uc003pic.2,p.A502E|ENST00000541192,p.A105E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pif.1	nonsynonymous SNV	exon10	c.C1199A	p.A400E	CNVRKLPVVFLQAIPAVYQKLSIQL	CNVRKLPVVFLQEIPAVYQKLSIQL	9.0	10.0	-	-	4252_6:76385675-76385675 C>A_CNVRKLPVVFLQEIPAVYQKLSIQL
2:182763839-182763839 G>C	1.0	4252	COLORECTAL	-	-	-	-	SSFA2	ENST00000428267,p.S15T|NM_001287504,p.S15T|uc002uol.3,p.S15T|NM_001130445,p.S168T|uc002uoi.3,p.S168T|ENST00000431877,p.S168T|uc002uoj.3,p.S168T|ENST00000320370,p.S168T|ENST00000409001,p.S168T|NM_001287503,p.S168T|uc002uoh.3,p.S168T|uc010zfo.2,p.S15T|NM_006751,p.S168T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zfo.2	nonsynonymous SNV	exon5	c.G44C	p.S15T	STGSGKSSGTVSSVSELLELYEEDP	STGSGKSSGTVSTVSELLELYEEDP	9.0	7.0	-	-	4252_2:182763839-182763839 G>C_STGSGKSSGTVSTVSELLELYEEDP
17:73227673-73227673 G>A	1.0	4252	COLORECTAL	-	-	-	-	NUP85	ENST00000579557,p.G168D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000579557	nonsynonymous SNV	exon5	c.G503A	p.G168D	FDIHQVIKECSFGSNMREFLLLEYA	FDIHQVIKECSFDSNMREFLLLEYA	10.0	10.0	-	-	4252_17:73227673-73227673 G>A_FDIHQVIKECSFDSNMREFLLLEYA
7:23830536-23830536 T>G	1.0	4252	COLORECTAL	-	-	-	-	STK31	uc011jze.3,p.L911V|ENST00000433467,p.L911V|NM_001260505,p.L911V	retained_intron, protein_coding, processed_transcript	uc011jze.3	nonsynonymous SNV	exon22	c.T2731G	p.L911V	LKMGKPASPGSDLYAYGCLLLWDDK	LKMGKPASPGSDVYAYGCLLLWDDK	6.0	2.0	-	-	4252_7:23830536-23830536 T>G_LKMGKPASPGSDVYAYGCLLLWDDK
19:32930718-32930718 C>G	1.0	4252	COLORECTAL	-	-	-	-	DPY19L3	uc002ntg.3,p.L253V|ENST00000586987,p.L253V|uc002nth.2,p.L253V|NM_001172774,p.L253V|ENST00000342179,p.L253V|NM_207325,p.L253V|ENST00000392250,p.L253V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, lincRNA	uc002nth.2	nonsynonymous SNV	exon8	c.C757G	p.L253V	RLTLLAIFISTFLFSLTWQFNQFMM	RLTLLAIFISTFVFSLTWQFNQFMM	7.0	1.0	-	-	4252_19:32930718-32930718 C>G_RLTLLAIFISTFVFSLTWQFNQFMM
3:127379470-127379470 A>C	1.0	4252	COLORECTAL	-	-	-	-	PODXL2	NM_015720,p.K200T|uc003ejq.3,p.K200T|ENST00000342480,p.K200T	protein_coding	uc003ejq.3	nonsynonymous SNV	exon3	c.A599C	p.K200T	ELLPVNGSQEEAKPQVRDFSLTSSS	ELLPVNGSQEEATPQVRDFSLTSSS	9.0	3.0	-	-	4252_3:127379470-127379470 A>C_ELLPVNGSQEEATPQVRDFSLTSSS
11:66108281-66108287 GCCTCTG>-	1.0	4252	COLORECTAL	-	-	-	-	BRMS1	uc001oho.1,p.Q165fs|NM_001024957,p.Q165fs|ENST00000425825,p.Q165fs	retained_intron, protein_coding, nonsense_mediated_decay	uc001oho.1	frameshift deletion	exon6	c.493_499del	p.Q165fs	YDTLQGELQERIQRLEEDRQSLDLS	YDTLQGELQERIWRRTARAWTSALNGGMTNCTPEAAPGLGTPCRPARGRRHLWFLAHTSCTCFKRSTSWRTGQPSKRLGQLCPLRRENRMTGGPTGPSGSAQPGSCGAAGPSHSIWHWPGLLLCPPRGLHSCGRGA	10.0	4.0	-	-	4252_11:66108281-66108287 GCCTCTG>-_YDTLQGELQERIWRRTARAWTSALNGGMTNCTPEAAPGLGTPCRPARGRRHLWFLAHTSCTCFKRSTSWRTGQPSKRLGQLCPLRRENRMTGGPTGPSGSAQPGSCGAAGPSHSIWHWPGLLLCPPRGLHSCGRGA
7:23830536-23830536 T>G	1.0	4252	COLORECTAL	-	-	-	-	STK31	NM_032944,p.L888V|uc003swv.1,p.L77V|uc010kuq.4,p.L888V|uc003sws.5,p.L911V|ENST00000354639,p.L888V|NM_031414,p.L911V|NM_001260504,p.L888V|uc003swt.5,p.L888V|uc031swr.1,p.L888V|ENST00000355870,p.L911V|ENST00000428484,p.L888V	retained_intron, protein_coding, processed_transcript	uc031swr.1	nonsynonymous SNV	exon22	c.T2662G	p.L888V	LKMGKPASPGSDLYAYGCLLLWLSV	LKMGKPASPGSDVYAYGCLLLWLSV	6.0	2.0	-	-	4252_7:23830536-23830536 T>G_LKMGKPASPGSDVYAYGCLLLWLSV
16:68324368-68324368 T>G	1.0	4252	COLORECTAL	-	-	-	-	SLC7A6	ENST00000566454,p.L240R|NM_003983,p.L240R|uc002evu.2,p.L240R|uc002evt.2,p.L240R|NM_001076785,p.L240R|ENST00000219343,p.L240R	retained_intron, protein_coding, nonsense_mediated_decay	uc002evu.2	nonsynonymous SNV	exon5	c.T719G	p.L240R	GSSWDMGNLSLALYSALFSYSGWDT	GSSWDMGNLSLARYSALFSYSGWDT	8.0	8.0	-	-	4252_16:68324368-68324368 T>G_GSSWDMGNLSLARYSALFSYSGWDT
10:124389397-124389397 G>T	1.0	4252	COLORECTAL	-	-	-	-	DMBT1	ENST00000338354,p.G1775W|uc021qaf.1,p.G1775W|ENST00000344338,p.G1765W|uc009xzz.1,p.G1775W|uc009yac.1,p.G69W|ENST00000368955,p.G1765W|ENST00000359586,p.G495W|uc021qag.1,p.G1765W|uc001lgm.1,p.G1147W|NM_004406,p.G1147W|ENST00000330163,p.G1147W|uc021qah.1,p.G1147W|ENST00000368956,p.G1147W|uc001lgk.1,p.G1775W|NM_007329,p.G1775W|uc001lgl.1,p.G1765W|NM_017579,p.G1765W|ENST00000368909,p.G1775W|uc010qtx.1,p.G495W|uc009yab.1,p.G478W	protein_coding	uc021qah.1	nonsynonymous SNV	exon31	c.G3439T	p.G1147W	SSNCGGFLFYASGTFSSPSYPAYYP	SSNCGGFLFYASWTFSSPSYPAYYP	8.0	7.0	-	-	4252_10:124389397-124389397 G>T_SSNCGGFLFYASWTFSSPSYPAYYP
17:74307645-74307645 C>T	1.0	4252	COLORECTAL	-	-	-	-	PRPSAP1	ENST00000324684,p.R276Q|uc010wta.1,p.R379Q|uc010wtb.1,p.R276Q|ENST00000446526,p.R379Q|NM_002766,p.R379Q	retained_intron, protein_coding, processed_transcript	uc010wtb.1	nonsynonymous SNV	exon10	c.G827A	p.R276Q	RIHNGESMAYLFRNITVDD	RIHNGESMAYLFQNITVDD	9.0	10.0	-	-	4252_17:74307645-74307645 C>T_RIHNGESMAYLFQNITVDD
19:58868091-58868091 C>T	1.0	4252	COLORECTAL	-	-	-	-	ZNF497	NM_001207009,p.C304Y|uc002qsh.2,p.C304Y|NM_198458,p.C304Y|ENST00000425453,p.C304Y|ENST00000311044,p.C304Y|uc002qsi.2,p.C304Y|uc021vcw.1,p.C304Y	protein_coding	uc021vcw.1	nonsynonymous SNV	exon1	c.G911A	p.C304Y	HRRTHSSEKPFPCAECGKAFRESSQ	HRRTHSSEKPFPYAECGKAFRESSQ	6.0	9.0	-	-	4252_19:58868091-58868091 C>T_HRRTHSSEKPFPYAECGKAFRESSQ
17:30521122-30521122 C>A	1.0	4252	COLORECTAL	-	-	-	-	RHOT1	ENST00000354266,p.P268T|uc002hgz.3,p.P289T|NM_018307,p.P289T|uc010wby.2,p.P289T|NM_001288755,p.P268T|uc002hgy.3,p.P289T|uc002hhb.3,p.P268T|NM_001288758,p.P162T|NM_001033567,p.P162T|NM_001033568,p.P289T|ENST00000333942,p.P289T|NM_001033566,p.P289T|uc002hgw.3,p.P289T|ENST00000394692,p.P289T|ENST00000358365,p.P289T|ENST00000581094,p.P289T|ENST00000583994,p.P162T|ENST00000545287,p.P289T|uc002hgx.3,p.P162T|NM_001288754,p.P289T|uc002hgv.3,p.P289T|ENST00000581031,p.P289T|uc002hha.3,p.P162T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wby.2	nonsynonymous SNV	exon11	c.C865A	p.P289T	DDDLDLTPEYLFPLLKIPPDCTTEL	DDDLDLTPEYLFTLLKIPPDCTTEL	8.0	3.0	-	-	4252_17:30521122-30521122 C>A_DDDLDLTPEYLFTLLKIPPDCTTEL
3:122447408-122447408 A>C	1.0	4252	COLORECTAL	-	-	-	-	PARP14	NM_017554,p.Q1790H|uc003efq.4,p.Q1790H|uc003efr.3,p.Q1507H|ENST00000474629,p.Q1790H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003efr.3	nonsynonymous SNV	exon12	c.A4521C	p.Q1507H	HHPSLFVAFYDYQAYPEYLITFRK	HHPSLFVAFYDYHAYPEYLITFRK	8.0	2.0	-	-	4252_3:122447408-122447408 A>C_HHPSLFVAFYDYHAYPEYLITFRK
4:108824510-108824510 C>T	1.0	4252	COLORECTAL	-	-	-	-	SGMS2	NM_152621,p.T232M|uc003hyn.3,p.T232M|NM_001136257,p.T232M|NM_001136258,p.T232M|ENST00000394686,p.T232M|ENST00000359079,p.T232M|uc003hyo.3,p.T232M|ENST00000503862,p.T59M|ENST00000394684,p.T232M|uc003hyl.4,p.T232M	protein_coding, processed_transcript	uc003hyo.3	nonsynonymous SNV	exon4	c.C695T	p.T232M	LCGDFLFSGHTVTLTLTYLFIKEYS	LCGDFLFSGHTVMLTLTYLFIKEYS	6.0	10.0	-	-	4252_4:108824510-108824510 C>T_LCGDFLFSGHTVMLTLTYLFIKEYS
17:56582147-56582147 G>A	1.0	4252	COLORECTAL	-	-	-	-	MTMR4	ENST00000579925,p.T431M|ENST00000323456,p.T431M|uc002iwj.2,p.T431M|NM_004687,p.T431M	retained_intron, protein_coding, nonsense_mediated_decay	uc002iwj.2	nonsynonymous SNV	exon12	c.C1292T	p.T431M	ALAKILLDPYYRTLEGFQVLVESDW	ALAKILLDPYYRMLEGFQVLVESDW	7.0	10.0	-	-	4252_17:56582147-56582147 G>A_ALAKILLDPYYRMLEGFQVLVESDW
7:102724251-102724251 A>T	1.0	4252	COLORECTAL	-	-	-	-	ARMC10	ENST00000434153,p.N123Y	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000434153	nonsynonymous SNV	exon3	c.A367T	p.N123Y	PVIIERALITLGNNAAFSVNQIPMK	PVIIERALITLGYNAAFSVNQIPMK	9.0	4.0	-	-	4252_7:102724251-102724251 A>T_PVIIERALITLGYNAAFSVNQIPMK
1:43395317-43395317 T>C	1.0	4252	COLORECTAL	-	-	-	-	SLC2A1	NM_006516,p.I272V|ENST00000439722,p.I177V|uc001cik.2,p.I272V|ENST00000426263,p.I272V	protein_coding, processed_transcript	uc001cik.2	nonsynonymous SNV	exon6	c.A814G	p.I272V	LELFRSPAYRQPILIAVVLQLSQQL	LELFRSPAYRQPVLIAVVLQLSQQL	9.0	8.0	CD8	-	4252_1:43395317-43395317 T>C_LELFRSPAYRQPVLIAVVLQLSQQL
12:125570911-125570911 G>A	1.0	4252	COLORECTAL	-	-	-	-	AACS	uc001uhd.3,p.E132K|uc001uhc.3,p.E132K|ENST00000316519,p.E132K|ENST00000261686,p.E132K|NM_023928,p.E132K	protein_coding, processed_transcript, nonsense_mediated_decay	uc001uhd.3	nonsynonymous SNV	exon4	c.G394A	p.E132K	REGKEEIVKVTFEELRQEVALFAAA	REGKEEIVKVTFKELRQEVALFAAA	9.0	1.0	-	-	4252_12:125570911-125570911 G>A_REGKEEIVKVTFKELRQEVALFAAA
7:102724251-102724251 A>T	1.0	4252	COLORECTAL	-	-	-	-	ARMC10	ENST00000428183,p.N123Y|ENST00000425331,p.N88Y|NM_001161010,p.N123Y|uc003vay.2,p.N123Y|uc011kli.2,p.N88Y|ENST00000323716,p.N123Y|uc010lis.2,p.N88Y|NM_001161013,p.N88Y|uc003vbb.2,p.N88Y|NM_031905,p.N123Y|uc003vax.2,p.N88Y|ENST00000454559,p.N88Y|uc003vaw.2,p.N123Y|NM_001161012,p.N88Y|NM_001161011,p.N88Y|ENST00000541300,p.N88Y|ENST00000441711,p.N88Y|ENST00000323735,p.N123Y|NM_001161009,p.N88Y	retained_intron, protein_coding, nonsense_mediated_decay	uc011kli.2	nonsynonymous SNV	exon2	c.A262T	p.N88Y	PVIIERALITLGNNAAFSVNQAIIR	PVIIERALITLGYNAAFSVNQAIIR	9.0	4.0	-	-	4252_7:102724251-102724251 A>T_PVIIERALITLGYNAAFSVNQAIIR
16:777989-777989 G>T	1.0	4252	COLORECTAL	-	-	-	-	HAGHL	ENST00000562141,p.G44W|NM_001290139,p.G44W|ENST00000568141,p.G44W|ENST00000564537,p.G44W|ENST00000561546,p.G44W|ENST00000341413,p.G44W|ENST00000567414,p.G44W|uc010uup.1,p.G44W|ENST00000549114,p.G44W|uc002cjn.1,p.G44W|ENST00000389703,p.G44W|NM_001290137,p.G44W|uc002cjo.1,p.G44W|NM_032304,p.G44W|uc002cjl.1,p.G44W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uup.1	nonsynonymous SNV	exon2	c.G130T	p.G44W	VPKRLLEIVGREGVSLTAVLTTHHH	VPKRLLEIVGREWVSLTAVLTTHHH	10.0	10.0	-	-	4252_16:777989-777989 G>T_VPKRLLEIVGREWVSLTAVLTTHHH
13:61102975-61102975 A>G	1.0	4252	COLORECTAL	-	-	-	-	TDRD3	NM_030794,p.Q446R|ENST00000377881,p.Q446R|uc001via.3,p.Q446R|ENST00000377894,p.Q446R|NM_001146070,p.Q539R|NM_001146071,p.Q446R|uc001vib.4,p.Q445R|uc010aef.2,p.Q271R|uc010aeg.3,p.Q539R|uc001vhz.4,p.Q446R|ENST00000196169,p.Q446R|ENST00000535286,p.Q539R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010aeg.3	nonsynonymous SNV	exon11	c.A1616G	p.Q539R	DYNNQKRGKRESQTSIPDYFYDRKS	DYNNQKRGKRESRTSIPDYFYDRKS	8.0	7.0	-	-	4252_13:61102975-61102975 A>G_DYNNQKRGKRESRTSIPDYFYDRKS
16:777989-777989 G>T	1.0	4252	COLORECTAL	-	-	-	-	HAGHL	ENST00000563792,p.G28W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000563792	nonsynonymous SNV	exon1	c.G82T	p.G28W	RPFQLLEIVGREGVSLTAVLTTHHH	RPFQLLEIVGREWVSLTAVLTTHHH	10.0	10.0	unscreened	-	4252_16:777989-777989 G>T_RPFQLLEIVGREWVSLTAVLTTHHH
16:75589767-75589767 C>A	1.0	4252	COLORECTAL	-	-	-	-	TMEM231	NM_001077418,p.A82S|ENST00000258173,p.A82S|NM_001077416,p.A135S|ENST00000562410,p.A82S|ENST00000565067,p.A82S|ENST00000398114,p.A111S|ENST00000570006,p.A82S|uc002fem.4,p.A82S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002fem.4	nonsynonymous SNV	exon2	c.G244T	p.A82S	VALLGPESDGFLAWSTFPAFNRLQG	VALLGPESDGFLSWSTFPAFNRLQG	7.0	10.0	-	-	4252_16:75589767-75589767 C>A_VALLGPESDGFLSWSTFPAFNRLQG
11:66108281-66108287 GCCTCTG>-	1.0	4252	COLORECTAL	-	-	-	-	BRMS1	uc001ohp.1,p.Q165fs|NM_015399,p.Q165fs|ENST00000359957,p.Q165fs	retained_intron, protein_coding, nonsense_mediated_decay	uc001ohp.1	frameshift deletion	exon6	c.493_499del	p.Q165fs	YDTLQGELQERIQRLEEDRQSLDLS	YDTLQGELQERIWRRTARAWTSALNGGMTNCTPEAAPGLGTPCRPARGRRHLWFLAHTSCTCFKRSTSWRTGQPSKRLGQLCPLRRENRMDL	10.0	4.0	-	-	4252_11:66108281-66108287 GCCTCTG>-_YDTLQGELQERIWRRTARAWTSALNGGMTNCTPEAAPGLGTPCRPARGRRHLWFLAHTSCTCFKRSTSWRTGQPSKRLGQLCPLRRENRMDL
6:53363751-53363751 C>T	1.0	4252	COLORECTAL	-	-	-	-	GCLC	NM_001197115,p.V535I|uc021zau.1,p.V535I|NM_001498,p.V573I|uc003pbv.1,p.V297I|ENST00000229416,p.V573I|uc003pbw.2,p.V573I	retained_intron, protein_coding, nonsense_mediated_decay	uc021zau.1	nonsynonymous SNV	exon15	c.G1603A	p.V535I	LIKKRASGELMTVARWMREFIANHP	LIKKRASGELMTIARWMREFIANHP	8.0	2.0	-	-	4252_6:53363751-53363751 C>T_LIKKRASGELMTIARWMREFIANHP
20:2845274-2845274 A>G	1.0	4252	COLORECTAL	-	-	-	-	VPS16	ENST00000380469,p.I490V|ENST00000380445,p.I634V|uc002whe.3,p.I634V|NM_080413,p.I490V|NM_022575,p.I634V|uc002whf.3,p.I490V|uc002whg.3,p.I320V|ENST00000380443,p.I320V	protein_coding, processed_transcript	uc002whg.3	nonsynonymous SNV	exon7	c.A958G	p.I320V	QDDNHQELGSFHIRASYAAEERIEG	QDDNHQELGSFHVRASYAAEERIEG	9.0	9.0	-	-	4252_20:2845274-2845274 A>G_QDDNHQELGSFHVRASYAAEERIEG
9:88190271-88190271 G>C	1.0	4252	COLORECTAL	-	-	-	-	AGTPBP1	uc010mqc.3,p.D1114E|ENST00000376083,p.D1114E|ENST00000357081,p.D1154E|ENST00000376109,p.D1166E|uc011lte.2,p.D1166E|NM_015239,p.D1114E|NM_001286717,p.D1166E|NM_001286715,p.D1206E|uc004aod.4,p.D780E|uc011ltd.2,p.D1154E	protein_coding, processed_transcript	uc011lte.2	nonsynonymous SNV	exon24	c.C3498G	p.D1166E	SPLEYNLPSSLLDFENDLIESSCKV	SPLEYNLPSSLLEFENDLIESSCKV	7.0	6.0	-	-	4252_9:88190271-88190271 G>C_SPLEYNLPSSLLEFENDLIESSCKV
9:33047314-33047314 G>C	1.0	4252	COLORECTAL	-	-	-	-	SMU1	NM_018225,p.L507V|uc003zsf.1,p.L507V|uc011lnu.1,p.L346V|ENST00000397149,p.L507V|ENST00000536631,p.L346V	protein_coding	uc011lnu.1	nonsynonymous SNV	exon10	c.C1036G	p.L346V	HQNLIATYSEDGLLKLWKP	HQNLIATYSEDGVLKLWKP	9.0	10.0	-	-	4252_9:33047314-33047314 G>C_HQNLIATYSEDGVLKLWKP
20:36767900-36767900 G>A	1.0	4252	COLORECTAL	-	-	-	-	TGM2	NM_198951,p.S419F|uc002xhs.1,p.S395F|uc002xhr.3,p.S419F|uc002xht.3,p.S419F|ENST00000361475,p.S419F|ENST00000536724,p.S359F|uc010zvy.2,p.S359F|uc010zvx.2,p.S338F|NM_004613,p.S419F|ENST00000536701,p.S338F	retained_intron, protein_coding	uc010zvy.2	nonsynonymous SNV	exon8	c.C1076T	p.S359F	QDDGSVHKSINRSLIVGLKISTKSV	QDDGSVHKSINRFLIVGLKISTKSV	10.0	5.0	-	-	4252_20:36767900-36767900 G>A_QDDGSVHKSINRFLIVGLKISTKSV
2:14774561-14774561 T>G	1.0	4252	COLORECTAL	-	-	-	-	FAM84A	uc021ved.1,p.I153S|ENST00000295092,p.I153S|ENST00000331243,p.I153S|NM_145175,p.I153S|uc002rbz.2,p.I153S	protein_coding, processed_transcript	uc021ved.1	nonsynonymous SNV	exon1	c.T458G	p.I153S	APHWAVYVGGGQIIHLHQGEIRQDS	APHWAVYVGGGQSIHLHQGEIRQDS	9.0	2.0	-	-	4252_2:14774561-14774561 T>G_APHWAVYVGGGQSIHLHQGEIRQDS
11:119205970-119205972 GCC>-	1.0	4252	COLORECTAL	-	-	-	-	RNF26	ENST00000311413,p.46_47del|uc001pwh.3,p.46_47del|NM_032015,p.46_47del	protein_coding	uc001pwh.3	nonframeshift deletion	exon1	c.138_140del	p.46_47del	ASLAWLLAFVYNLPHTVLTSLLHLG	ASLAWLLAFVYNLHTVLTSLLHLGR	8.0	10.0	-	-	4252_11:119205970-119205972 GCC>-_ASLAWLLAFVYNLHTVLTSLLHLGR
8:86171755-86171755 G>C	1.0	4252	COLORECTAL	-	-	-	-	CA13	uc003ydg.2,p.S114T|ENST00000321764,p.S114T|NM_198584,p.S114T	retained_intron, protein_coding, processed_transcript	uc003ydg.2	nonsynonymous SNV	exon3	c.G341C	p.S114T	DDHGSEHIVDGVSYAAELHVVHWNS	DDHGSEHIVDGVTYAAELHVVHWNS	7.0	9.0	-	-	4252_8:86171755-86171755 G>C_DDHGSEHIVDGVTYAAELHVVHWNS
6:153323792-153323792 G>A	1.0	4252	COLORECTAL	-	-	-	-	MTRF1L	uc003qpi.4,p.A10V|NM_001301872,p.A10V|NM_001301870,p.A10V|uc003qpl.4,p.A10V|NM_019041,p.A10V|ENST00000367231,p.A10V|uc003qpk.4,p.A10V|ENST00000367230,p.A10V|ENST00000367233,p.A10V|NM_001114184,p.A10V|NM_001301047,p.A10V|uc011efa.2,p.A10V	protein_coding, processed_transcript	uc011efa.2	nonsynonymous SNV	exon1	c.C29T	p.A10V	MRSRVLWGAARWLWPRRAVGPA	MRSRVLWGAVRWLWPRRAVGPA	8.0	3.0	-	-	4252_6:153323792-153323792 G>A_MRSRVLWGAVRWLWPRRAVGPA
6:99998892-99998892 C>G	1.0	4252	COLORECTAL	-	-	-	2	CCNC	NM_001013399,p.E54Q|ENST00000523799,p.E54Q|ENST00000520371,p.E139Q|ENST00000369220,p.E139Q|uc003pqd.3,p.E54Q|ENST00000518714,p.E139Q|ENST00000326298,p.E139Q|uc010kcs.3,p.E139Q|ENST00000523985,p.E54Q|ENST00000486428,p.E85Q|uc011eah.2,p.E54Q|NM_005190,p.E139Q|ENST00000524049,p.E54Q|ENST00000520429,p.E139Q|uc003pqe.3,p.E139Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011eah.2	nonsynonymous SNV	exon6	c.G160C	p.E54Q	EFPYRMNHILECEFYLLELMDCCLI	EFPYRMNHILECQFYLLELMDCCLI	9.0	6.0	-	-	4252_6:99998892-99998892 C>G_EFPYRMNHILECQFYLLELMDCCLI
7:5967982-5967982 G>T	1.0	4252	COLORECTAL	-	-	-	-	RSPH10B,RSPH10B2	NM_001099697,p.N759K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	NM_001099697	nonsynonymous SNV	exon20	c.C2277A	p.N759K	YERPKDDREEEFNTWVNNTYVFFVN	YERPKDDREEEFKTWVNNTYVFFVN	5.0	6.0	unscreened	-	4252_7:5967982-5967982 G>T_YERPKDDREEEFKTWVNNTYVFFVN
6:146977934-146977934 T>A	1.0	4252	COLORECTAL	-	-	-	-	ADGB	uc010khx.3,p.Y144N|NM_024694,p.Y144N|ENST00000397944,p.Y144N|ENST00000493950,p.Y144N|ENST00000522242,p.Y138N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010khx.3	nonsynonymous SNV	exon5	c.T430A	p.Y144N	CSELMRWIISEIYAVWKIFNGGILS	CSELMRWIISEINAVWKIFNGGILS	6.0	9.0	-	-	4252_6:146977934-146977934 T>A_CSELMRWIISEINAVWKIFNGGILS
11:46693847-46693847 C>T	1.0	4252	COLORECTAL	-	-	-	-	ATG13	ENST00000529655,p.R470C|uc009yld.3,p.R507C|NM_001142673,p.R507C|NM_001205119,p.R540C|uc001ndb.3,p.R507C|ENST00000359513,p.R507C|NM_001205120,p.R507C|ENST00000530500,p.R391C|uc001ndc.3,p.R470C|ENST00000524625,p.R470C|ENST00000528494,p.R540C|uc010rgv.2,p.R391C|ENST00000312040,p.R507C|NM_001205122,p.R391C|ENST00000451945,p.R470C|NM_014741,p.R470C|uc001nda.3,p.R540C|ENST00000526508,p.R507C|uc001ncz.3,p.R470C|NM_001205121,p.R470C|ENST00000434074,p.R507C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rgv.2	nonsynonymous SNV	exon15	c.C1171T	p.R391C	LPEKLAVHEKNVREFDAFVETLQ	LPEKLAVHEKNVCEFDAFVETLQ	9.0	8.0	-	-	4252_11:46693847-46693847 C>T_LPEKLAVHEKNVCEFDAFVETLQ
5:96118858-96118858 G>A	1.0	4252	COLORECTAL	-	-	-	-	ERAP1	uc003kml.3,p.R728W|uc010jbm.2,p.R540W|NM_001198541,p.R728W|uc003kmm.3,p.R728W|NM_016442,p.R728W|NM_001040458,p.R728W|uc003kmn.3,p.R728W|ENST00000443439,p.R728W|ENST00000296754,p.R728W	retained_intron, protein_coding, processed_transcript	uc010jbm.2	nonsynonymous SNV	exon14	c.C1618T	p.R540W	WTDEGSVSERMLRSQLLLLACVHNY	WTDEGSVSERMLWSQLLLLACVHNY	7.0	6.0	-	-	4252_5:96118858-96118858 G>A_WTDEGSVSERMLWSQLLLLACVHNY
12:133219844-133219844 G>A	1.0	4252	COLORECTAL	-	-	-	1	POLE	uc001ukr.1,p.S310L|NM_006231,p.S1506L|uc001uks.1,p.S1506L|ENST00000535270,p.S1479L|ENST00000320574,p.S1506L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uks.1	nonsynonymous SNV	exon35	c.C4517T	p.S1506L	QAHKALFGIFIPSQRRASVFVLDTV	QAHKALFGIFIPLQRRASVFVLDTV	9.0	9.0	-	-	4252_12:133219844-133219844 G>A_QAHKALFGIFIPLQRRASVFVLDTV
19:18245518-18245518 G>C	1.0	4252	COLORECTAL	-	-	-	-	MAST3	NM_015016,p.K538N|ENST00000262811,p.K538N|uc002nhz.4,p.K538N	retained_intron, protein_coding	uc002nhz.4	nonsynonymous SNV	exon15	c.G1614C	p.K538N	GHIEKDAREFIDKQVCGTPEYIAPE	GHIEKDAREFIDNQVCGTPEYIAPE	7.0	8.0	-	-	4252_19:18245518-18245518 G>C_GHIEKDAREFIDNQVCGTPEYIAPE
6:30860917-30860917 C>G	1.0	4252	COLORECTAL	-	-	-	-	DDR1	NM_001297652,p.P391R|NM_001202522,p.P391R|ENST00000513240,p.P391R|ENST00000454612,p.P391R|ENST00000376570,p.P391R|NM_001202523,p.P409R|uc011dms.2,p.P409R|ENST00000452441,p.P391R|uc003nru.3,p.P391R|ENST00000508312,p.P409R|NM_001202521,p.P391R|uc003nrx.2,p.P391R|ENST00000418800,p.P391R|ENST00000376569,p.P391R|NM_013994,p.P391R|uc003nrr.3,p.P391R|ENST00000417521,p.P187R|uc003nrs.3,p.P391R|NM_013993,p.P391R|uc003nrt.3,p.P391R|NM_001297654,p.P391R|ENST00000376568,p.P391R|ENST00000324771,p.P391R|NM_001954,p.P391R|uc003nrq.3,p.P391R|ENST00000361741,p.P122R|ENST00000376575,p.P391R|uc010jse.3,p.P391R|uc003nry.2,p.P391R|NM_001297653,p.P391R|ENST00000376567,p.P391R|uc003nrv.3,p.P391R|uc003nrw.1,p.P190R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dms.2	nonsynonymous SNV	exon9	c.C1226G	p.P409R	TFPPAPWWPPGPPPTNFSSLELEPR	TFPPAPWWPPGPRPTNFSSLELEPR	10.0	2.0	-	-	4252_6:30860917-30860917 C>G_TFPPAPWWPPGPRPTNFSSLELEPR
5:50091070-50091070 G>C	1.0	4252	COLORECTAL	-	-	-	-	PARP8	NM_024615,p.R416T|ENST00000505554,p.R395T|ENST00000514067,p.R416T|NM_001178055,p.R416T|ENST00000503750,p.R416T|uc011cpz.2,p.R308T|ENST00000281631,p.R416T|ENST00000514342,p.R169T|ENST00000505697,p.R416T|uc003jop.3,p.R416T|NM_001178056,p.R416T|uc003joo.3,p.R416T|uc003jon.4,p.R416T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cpz.2	nonsynonymous SNV	exon11	c.G923C	p.R308T	HKLLSRSYSSNLRMEELYGLKNHKL	HKLLSRSYSSNLTMEELYGLKNHKL	8.0	1.0	-	-	4252_5:50091070-50091070 G>C_HKLLSRSYSSNLTMEELYGLKNHKL
7:27839678-27839678 T>G	1.0	4252	COLORECTAL	-	-	-	-	TAX1BP1	ENST00000409980,p.L578R|ENST00000457186,p.L133R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000457186	nonsynonymous SNV	exon4	c.T398G	p.L133R	WKEQVKIAENVKLELAEVQDNYKLQ	WKEQVKIAENVKRELAEVQDNYKLQ	10.0	10.0	-	-	4252_7:27839678-27839678 T>G_WKEQVKIAENVKRELAEVQDNYKLQ
12:129299382-129299382 C>A	1.0	4252	COLORECTAL	-	-	-	-	SLC15A4	NM_145648,p.M260I|ENST00000266771,p.M260I|uc001uhu.2,p.M260I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uhu.2	nonsynonymous SNV	exon2	c.G780T	p.M260I	ITKPPDGSAFTDMFKILTYSCCSQK	ITKPPDGSAFTDIFKILTYSCCSQK	8.0	3.0	-	-	4252_12:129299382-129299382 C>A_ITKPPDGSAFTDIFKILTYSCCSQK
17:80443426-80443426 G>A	1.0	4252	COLORECTAL	-	-	-	-	NARF	uc002kff.4,p.R283H|ENST00000309794,p.R342H|NM_001038618,p.R283H|uc002kfg.4,p.R342H|uc002kfj.4,p.R294H|NM_001083608,p.R294H|ENST00000457415,p.R388H|ENST00000390006,p.R283H|ENST00000345415,p.R294H|NM_012336,p.R342H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kfj.4	nonsynonymous SNV	exon9	c.G881A	p.R294H	EVTLEKNGEVVLRFAAAYGFRNIQN	EVTLEKNGEVVLHFAAAYGFRNIQN	10.0	5.0	-	-	4252_17:80443426-80443426 G>A_EVTLEKNGEVVLHFAAAYGFRNIQN
1:149871817-149871817 C>G	1.0	4252	COLORECTAL	-	-	-	-	BOLA1	uc021oya.1,p.R69G|ENST00000369153,p.R69G|ENST00000369152,p.R69G|ENST00000369150,p.R69G|NM_016074,p.R69G|uc001etf.3,p.R69G	protein_coding, processed_transcript	uc021oya.1	nonsynonymous SNV	exon1	c.C205G	p.R69G	GHAVPPGSETHFRVAVVSSRFEGLS	GHAVPPGSETHFGVAVVSSRFEGLS	9.0	3.0	-	-	4252_1:149871817-149871817 C>G_GHAVPPGSETHFGVAVVSSRFEGLS
19:19260154-19260154 T>G	1.0	4252	COLORECTAL	-	-	-	-	MEF2B,MEF2BNB-MEF2B	uc010xqp.1,p.I47L|ENST00000424583,p.I47L|uc002nlo.2,p.I47L|NM_005919,p.I47L|uc002nll.2,p.I47L|ENST00000444486,p.I47L|uc010xqo.2,p.I64L|NM_001145785,p.I47L|ENST00000514819,p.I64L|ENST00000162023,p.I47L|uc002nlk.2,p.I47L|ENST00000602424,p.I47L|ENST00000410050,p.I47L|uc002nlp.2,p.I47L|ENST00000409447,p.I47L|ENST00000409224,p.I47L	retained_intron, protein_coding	uc010xqp.1	nonsynonymous SNV	exon7	c.A139C	p.I47L	LSVLCDCEIALIIFNSANRLFQYAS	LSVLCDCEIALILFNSANRLFQYAS	7.0	5.0	-	-	4252_19:19260154-19260154 T>G_LSVLCDCEIALILFNSANRLFQYAS
7:27839678-27839678 T>G	1.0	4252	COLORECTAL	-	-	-	-	TAX1BP1	ENST00000433216,p.L421R|NM_001079864,p.L578R|uc003szk.3,p.L578R|uc003szl.3,p.L578R|uc011jzp.2,p.L421R|ENST00000396319,p.L578R|NM_001206902,p.L421R|ENST00000265393,p.L578R|uc011jzo.2,p.L578R|ENST00000543117,p.L578R|NM_001206901,p.L578R|NM_006024,p.L578R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011jzp.2	nonsynonymous SNV	exon12	c.T1262G	p.L421R	WKEQVKIAENVKLELAEVQDNYKEL	WKEQVKIAENVKRELAEVQDNYKEL	10.0	10.0	-	-	4252_7:27839678-27839678 T>G_WKEQVKIAENVKRELAEVQDNYKEL
10:124806758-124806758 A>C	1.0	4252	COLORECTAL	-	-	-	-	ACADSB	NM_001609,p.T312P|ENST00000368869,p.T210P|uc010qub.2,p.T210P|uc001lhb.3,p.T312P|ENST00000358776,p.T312P	retained_intron, protein_coding, processed_transcript	uc010qub.2	nonsynonymous SNV	exon7	c.A628C	p.T210P	QMLGLAQGCFDYTIPYIKERIQFGK	QMLGLAQGCFDYPIPYIKERIQFGK	7.0	1.0	-	-	4252_10:124806758-124806758 A>C_QMLGLAQGCFDYPIPYIKERIQFGK
12:112650356-112650356 G>A	1.0	4252	COLORECTAL	-	-	-	-	HECTD4	ENST00000430131,p.R2100C|ENST00000377560,p.R2350C|ENST00000550722,p.R2376C|NM_001109662,p.R2388C|uc001ttr.1,p.R275C|uc021reb.1,p.R2388C	retained_intron, protein_coding, processed_transcript	uc021reb.1	nonsynonymous SNV	exon49	c.C7162T	p.R2388C	AKGRVYFTYCGQRLSPYLEDVSGGM	AKGRVYFTYCGQCLSPYLEDVSGGM	9.0	8.0	-	-	4252_12:112650356-112650356 G>A_AKGRVYFTYCGQCLSPYLEDVSGGM
11:111910080-111910080 A>C	1.0	4252	COLORECTAL	-	-	-	-	DLAT	ENST00000537636,p.K134T|ENST00000280346,p.K363T|uc021qqn.1,p.K307T|uc010rwr.2,p.K236T|uc001pmo.3,p.K363T|ENST00000531306,p.K195T|NM_001931,p.K363T|ENST00000393051,p.K258T	retained_intron, protein_coding, nonsense_mediated_decay	uc021qqn.1	nonsynonymous SNV	exon7	c.A920C	p.K307T	PKGRVFVSPLAKKLAVEKGIDLTQV	PKGRVFVSPLAKTLAVEKGIDLTQV	8.0	5.0	-	-	4252_11:111910080-111910080 A>C_PKGRVFVSPLAKTLAVEKGIDLTQV
7:5967982-5967982 G>T	1.0	4252	COLORECTAL	-	-	-	-	RSPH10B,RSPH10B2	uc010ktd.1,p.N759K|ENST00000404406,p.N759K|ENST00000337579,p.N759K|ENST00000405415,p.N759K|uc003sph.1,p.N759K|NM_173565,p.N759K|ENST00000441023,p.N759K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ktd.1	nonsynonymous SNV	exon19	c.C2277A	p.N759K	YERPKDDREEEFNTWVNNMYVFFVN	YERPKDDREEEFKTWVNNMYVFFVN	5.0	6.0	-	-	4252_7:5967982-5967982 G>T_YERPKDDREEEFKTWVNNMYVFFVN
12:122709069-122709069 G>A	1.0	4252	COLORECTAL	-	-	-	-	DIABLO	NM_001278342,p.P58L|ENST00000353548,p.P58L|ENST00000413918,p.P58L|uc010tad.2,p.P58L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tad.2	nonsynonymous SNV	exon3	c.C173T	p.P58L	VTIGFGVTLCAVPIAQAVYTLTSLY	VTIGFGVTLCAVLIAQAVYTLTSLY	10.0	8.0	-	-	4252_12:122709069-122709069 G>A_VTIGFGVTLCAVLIAQAVYTLTSLY
11:4411251-4411251 T>C	1.0	4252	COLORECTAL	-	-	-	-	TRIM21	ENST00000254436,p.E130G|uc001lyy.1,p.E130G|NM_003141,p.E130G|ENST00000543625,p.E130G	protein_coding	uc001lyy.1	nonsynonymous SNV	exon2	c.A389G	p.E130G	RKHRDHAMVPLEEAAQEYQEKLQVA	RKHRDHAMVPLEGAAQEYQEKLQVA	9.0	5.0	-	-	4252_11:4411251-4411251 T>C_RKHRDHAMVPLEGAAQEYQEKLQVA
1:110300132-110300132 C>T	1.0	4252	COLORECTAL	-	-	-	-	EPS8L3	uc009wfn.2,p.V289I|uc009wfm.2,p.V281I|ENST00000361852,p.V314I|ENST00000369805,p.V315I|ENST00000361965,p.V314I|uc009wfo.2,p.V261I|uc001dyr.2,p.V314I|uc001dyq.2,p.V315I|NM_024526,p.V314I|NM_133181,p.V314I|uc001dys.2,p.V314I|NM_139053,p.V315I	protein_coding, processed_transcript	uc009wfo.2	nonsynonymous SNV	exon10	c.G781A	p.V261I	ATWLKETSAPELVHILFKSLNFILA	ATWLKETSAPELIHILFKSLNFILA	9.0	1.0	-	-	4252_1:110300132-110300132 C>T_ATWLKETSAPELIHILFKSLNFILA
1:11182146-11182146 A>C	1.0	4252	COLORECTAL	-	-	-	1	MTOR	uc001asd.3,p.S2234A|ENST00000361445,p.S2234A|NM_004958,p.S2234A|uc001asc.3,p.S439A|ENST00000376838,p.S439A	protein_coding, processed_transcript	uc001asd.3	nonsynonymous SNV	exon48	c.T6700G	p.S2234A	IQRYAVIPLSTNSGLIGWVPHCDTL	IQRYAVIPLSTNAGLIGWVPHCDTL	8.0	6.0	-	-	4252_1:11182146-11182146 A>C_IQRYAVIPLSTNAGLIGWVPHCDTL
17:7578406-7578406 C>T	1.0	4252	COLORECTAL	-	-	ID=COSM3355994,COSM1640851,COSM99024,COSM99023,COSM10648,COSM99914,COSM99022;OCCURENCE=4(skin),97(breast),9(biliary_tract),321(large_intestine),4(prostate),4(kidney),9(liver),22(pancreas),28(urinary_tract),1(adrenal_gland),65(ovary),1(soft_tissue),9(endometrium),2(salivary_gland),1(penis),18(lung),2(thyroid),35(haematopoietic_and_lymphoid_tissue),4(cervix),62(stomach),70(central_nervous_system),80(oesophagus),2(vulva),3(bone),51(upper_aerodigestive_tract)	1	TP53	NM_001126113,p.R175H|uc010cnf.2,p.R16H|NM_001276699,p.R16H|ENST00000420246,p.R175H|uc002gin.3,p.R82H|NM_001126112,p.R175H|ENST00000359597,p.R175H|NM_001126114,p.R175H|NM_001126116,p.R43H|uc002gig.1,p.R175H|NM_001126118,p.R136H|uc002gij.3,p.R136H|NM_001276760,p.R136H|uc002gih.3,p.R175H|uc002gio.3,p.R43H|uc031qyq.1,p.R136H|uc002gii.2,p.R16H|NM_001276698,p.R16H|NM_001126115,p.R43H|NM_001276761,p.R136H|NM_000546,p.R175H|ENST00000455263,p.R175H|ENST00000269305,p.R175H|uc010cng.2,p.R16H|ENST00000509690,p.R43H|NM_001276696,p.R136H|ENST00000445888,p.R175H|ENST00000413465,p.R175H|ENST00000514944,p.R82H|NM_001126117,p.R43H|uc010vug.3,p.R136H|NM_001276697,p.R16H|NM_001276695,p.R136H	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon4	c.G407A	p.R136H	YKQSQHMTEVVRRCPHHERCSDSDG	YKQSQHMTEVVRHCPHHERCSDSDG	10.0	10.0	-	-	4252_17:7578406-7578406 C>T_YKQSQHMTEVVRHCPHHERCSDSDG
3:37368274-37368274 A>G	1.0	4252	COLORECTAL	-	-	-	-	GOLGA4	uc003cgw.3,p.S1655G|ENST00000437131,p.S1504G|uc010hgr.2,p.S1194G|ENST00000356847,p.S1655G|ENST00000361924,p.S1633G|NM_001172713,p.S1655G|NM_002078,p.S1633G|uc003cgv.3,p.S1633G|uc003cgx.3,p.S1514G	retained_intron, protein_coding, processed_transcript	uc010hgr.2	nonsynonymous SNV	exon5	c.A3580G	p.S1194G	ELKALEDRLESESAAKLAELKRKAE	ELKALEDRLESEGAAKLAELKRKAE	9.0	4.0	-	-	4252_3:37368274-37368274 A>G_ELKALEDRLESEGAAKLAELKRKAE
1:1430992-1431005 TCGAGCACCCCCTA>-	1.0	4252	COLORECTAL	-	-	-	-	ATAD3B	uc001afx.3,p.V535fs|NM_031921,p.V581fs|ENST00000308647,p.V581fs|uc001afv.3,p.V581fs	retained_intron, protein_coding, processed_transcript	uc001afx.3	frameshift deletion	exon14	c.1604_1617del	p.V535fs	MRWLKAEGPGRGVEHPLSGVQGETL	MRWLKAEGPGRGVRSPRRDPHLMEPGHGPLLPLPCRPLHI	8.0	2.0	-	-	4252_1:1430992-1431005 TCGAGCACCCCCTA>-_MRWLKAEGPGRGVRSPRRDPHLMEPGHGPLLPLPCRPLHI
2:84928418-84928418 T>A	0.0	4252	COLORECTAL	-	-	-	-	DNAH6	ENST00000237449,p.N2672K|ENST00000389394,p.N2672K|NM_001370,p.N2672K|uc010fgb.3,p.N2672K	retained_intron, protein_coding, processed_transcript	uc010fgb.3	nonsynonymous SNV	exon49	c.T8016A	p.N2672K	YYTTPTSYLELINLYLSMLSEKRKQ	YYTTPTSYLELIKLYLSMLSEKRKQ	6.0	1.0	unscreened	-	4252_2:84928418-84928418 T>A_YYTTPTSYLELIKLYLSMLSEKRKQ
12:112747452-112747452 A>T	0.0	4252	COLORECTAL	-	-	-	-	HECTD4	uc001tts.3,p.L169H|NM_001109662,p.L169H|ENST00000377560,p.L169H|ENST00000550722,p.L169H|uc021reb.1,p.L169H	retained_intron, protein_coding, processed_transcript	uc021reb.1	nonsynonymous SNV	exon5	c.T506A	p.L169H	SSENKDADLGRCLTADGLYLYTTNS	SSENKDADLGRCHTADGLYLYTTNS	9.0	5.0	unscreened	-	4252_12:112747452-112747452 A>T_SSENKDADLGRCHTADGLYLYTTNS
1:46489651-46489651 A>C	1.0	4252	COLORECTAL	-	-	-	-	MAST2	uc001cov.3,p.E593D|uc001cow.3,p.E593D|ENST00000361297,p.E593D|NM_015112,p.E593D|ENST00000372009,p.E523D|ENST00000372008,p.E478D|uc001coy.1,p.E267D|uc001coz.1,p.E478D	protein_coding, processed_transcript	uc001coz.1	nonsynonymous SNV	exon13	c.A1434C	p.E478D	TKRHLCMVMEYVEGGDCATLLKNIG	TKRHLCMVMEYVDGGDCATLLKNIG	8.0	8.0	-	-	4252_1:46489651-46489651 A>C_TKRHLCMVMEYVDGGDCATLLKNIG
7:73084365-73084365 G>A	1.0	4252	COLORECTAL	-	-	-	-	VPS37D	uc003tyr.3,p.R109H|NM_001077621,p.R109H|ENST00000324941,p.R109H	protein_coding	uc003tyr.3	nonsynonymous SNV	exon3	c.G326A	p.R109H	ADKLQRLEESMHRWSPHCALGWLQA	ADKLQRLEESMHHWSPHCALGWLQA	8.0	9.0	-	-	4252_7:73084365-73084365 G>A_ADKLQRLEESMHHWSPHCALGWLQA
12:7026748-7026748 A>C	1.0	4252	COLORECTAL	-	-	-	-	ENO2	ENST00000538763,p.K62T|uc010sfq.1,p.K62T|ENST00000544774,p.K62T	retained_intron, protein_coding, processed_transcript	uc010sfq.1	nonsynonymous SNV	exon4	c.A185C	p.K62T	RDGDKQRYLGKAKFGANAILGVSLA	RDGDKQRYLGKATFGANAILGVSLA	9.0	1.0	-	-	4252_12:7026748-7026748 A>C_RDGDKQRYLGKATFGANAILGVSLA
16:55584995-55584995 T>G	1.0	4252	COLORECTAL	-	-	-	-	LPCAT2	uc002eie.4,p.L399R|ENST00000262134,p.L399R|uc002eic.3,p.L129R|NM_017839,p.L399R	retained_intron, protein_coding, processed_transcript	uc002eie.4	nonsynonymous SNV	exon11	c.T1196G	p.L399R	YLKLPVSDVLRQLFALFDRNHDGSI	YLKLPVSDVLRQRFALFDRNHDGSI	8.0	4.0	-	-	4252_16:55584995-55584995 T>G_YLKLPVSDVLRQRFALFDRNHDGSI
16:89702968-89702968 A>C	1.0	4252	COLORECTAL	-	-	-	-	DPEP1	ENST00000261615,p.K133T|uc002fns.4,p.K133T|NM_001128141,p.K133T|NM_004413,p.K133T|ENST00000421184,p.K133T|uc010cin.3,p.K133T|uc002fnr.4,p.K133T|ENST00000393092,p.K133T	retained_intron, protein_coding	uc010cin.3	nonsynonymous SNV	exon5	c.A398C	p.K133T	SSAGIRQAFREGKVASLIGVEGGHS	SSAGIRQAFREGTVASLIGVEGGHS	10.0	5.0	-	-	4252_16:89702968-89702968 A>C_SSAGIRQAFREGTVASLIGVEGGHS
11:62406917-62406917 C>G	1.0	4252	COLORECTAL	-	-	-	-	GANAB	ENST00000529737,p.Q54H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000529737	nonsynonymous SNV	exon3	c.G162C	p.Q54H	EESSFCDREAYGQASLHTEPCWTLY	EESSFCDREAYGHASLHTEPCWTLY	10.0	1.0	-	-	4252_11:62406917-62406917 C>G_EESSFCDREAYGHASLHTEPCWTLY
5:118450182-118450182 A>C	1.0	4252	COLORECTAL	-	-	-	-	DMXL1	uc003ksc.1,p.Q170H|uc010jcl.1,p.Q170H|ENST00000503802,p.Q170H|NM_005509,p.Q170H|ENST00000311085,p.Q170H|ENST00000539542,p.Q170H|uc003ksd.2,p.Q170H|NM_001290321,p.Q170H	retained_intron, protein_coding, processed_transcript	uc010jcl.1	nonsynonymous SNV	exon6	c.A510C	p.Q170H	DWKCIWHCKTASQVHLMKFSPDGEF	DWKCIWHCKTASHVHLMKFSPDGEF	8.0	3.0	-	-	4252_5:118450182-118450182 A>C_DWKCIWHCKTASHVHLMKFSPDGEF
1:169824055-169824055 C>T	1.0	4252	COLORECTAL	-	-	-	-	SCYL3	uc001ggs.3,p.V509I|NM_181093,p.V509I|NM_020423,p.V455I|uc001ggt.3,p.V455I|ENST00000367771,p.V455I|ENST00000367770,p.V509I|ENST00000423670,p.V455I|ENST00000367772,p.V509I|uc010plw.2,p.V101I	protein_coding, processed_transcript	uc010plw.2	nonsynonymous SNV	exon7	c.G301A	p.V101I	QPIKFPINGLSDVKNTSEDSENFPS	QPIKFPINGLSDIKNTSEDSENFPS	7.0	8.0	-	-	4252_1:169824055-169824055 C>T_QPIKFPINGLSDIKNTSEDSENFPS
9:133753846-133753846 C>T	1.0	4252	COLORECTAL	-	-	-	1	ABL1	uc004bzw.3,p.P439S|uc004bzv.3,p.P458S|ENST00000372348,p.P458S|NM_007313,p.P458S|ENST00000318560,p.P439S|NM_005157,p.P439S	protein_coding	uc004bzw.3	nonsynonymous SNV	exon8	c.C1315T	p.P439S	VLLWEIATYGMSPYPGIDLSQVYEL	VLLWEIATYGMSSYPGIDLSQVYEL	8.0	10.0	-	-	4252_9:133753846-133753846 C>T_VLLWEIATYGMSSYPGIDLSQVYEL
12:15669823-15669823 C>A	0.0	4252	COLORECTAL	-	-	-	-	PTPRO	uc001rcv.2,p.A571D|NM_002848,p.A571D|NM_030667,p.A571D|ENST00000543886,p.A571D|uc001rcw.2,p.A571D|uc001rcu.2,p.A571D|ENST00000281171,p.A571D|ENST00000348962,p.A571D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rcw.2	nonsynonymous SNV	exon9	c.C1712A	p.A571D	RKYVVEMFYFNPATMTSEWTTYYEI	RKYVVEMFYFNPDTMTSEWTTYYEI	9.0	4.0	unscreened	-	4252_12:15669823-15669823 C>A_RKYVVEMFYFNPDTMTSEWTTYYEI
5:139917106-139917106 C>T	1.0	4252	COLORECTAL	-	-	-	-	ANKHD1,ANKHD1-EIF4EBP3	ENST00000437495,p.A415V|NM_017747,p.A2387V|uc011czh.1,p.A1143V|uc003lfs.2,p.A2387V|NM_020690,p.A2387V|ENST00000544120,p.A711V|uc003lfx.1,p.A541V|ENST00000433049,p.A926V|ENST00000431508,p.A1060V|ENST00000297183,p.A2387V|uc010jfl.3,p.A763V|uc003lfr.3,p.A2387V|ENST00000360839,p.A2387V|uc003lfw.3,p.A1042V|ENST00000532219,p.A2387V	retained_intron, protein_coding, processed_transcript	uc011czh.1	nonsynonymous SNV	exon11	c.C3428T	p.A1143V	RIRQGGSVAQAPAGTSFVAPVGHSG	RIRQGGSVAQAPVGTSFVAPVGHSG	10.0	9.0	-	-	4252_5:139917106-139917106 C>T_RIRQGGSVAQAPVGTSFVAPVGHSG
14:20763523-20763523 C>A	1.0	4252	COLORECTAL	-	-	-	-	TTC5	NM_138376,p.V336F|uc001vwt.3,p.V336F|ENST00000258821,p.V336F|uc001vwu.3,p.V193F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001vwu.3	nonsynonymous SNV	exon8	c.G577T	p.V193F	LSTLQPGVNSGAVILGKVVFSLTTE	LSTLQPGVNSGAFILGKVVFSLTTE	7.0	5.0	-	-	4252_14:20763523-20763523 C>A_LSTLQPGVNSGAFILGKVVFSLTTE
11:62406917-62406917 C>G	1.0	4252	COLORECTAL	-	-	-	-	GANAB	uc001nua.4,p.G56R|NM_198334,p.G56R|ENST00000346178,p.G56R|ENST00000356638,p.G56R|uc001nub.4,p.G56R|NM_198335,p.G56R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001nub.4	nonsynonymous SNV	exon3	c.G166C	p.G56R	SSFCKRQRSIRPGLSPYRALLDSLQ	SSFCKRQRSIRPRLSPYRALLDSLQ	10.0	1.0	-	-	4252_11:62406917-62406917 C>G_SSFCKRQRSIRPRLSPYRALLDSLQ
9:131581324-131581324 G>C	1.0	4252	COLORECTAL	-	-	-	-	ENDOG	ENST00000372642,p.V121L|uc004bwc.3,p.V121L|NM_004435,p.V121L	protein_coding	uc004bwc.3	nonsynonymous SNV	exon1	c.G361C	p.V121L	DRRECDFREDDSVHAYHRATNADYR	DRRECDFREDDSLHAYHRATNADYR	9.0	10.0	CD8	-	4252_9:131581324-131581324 G>C_DRRECDFREDDSLHAYHRATNADYR
17:73539552-73539552 G>C	1.0	4252	COLORECTAL	-	-	-	-	LLGL2	ENST00000392550,p.R15S|ENST00000577200,p.R15S|ENST00000579392,p.R15S|ENST00000578363,p.R15S|ENST00000375227,p.R15S|ENST00000578536,p.R15S|NM_004524,p.R15S|uc010dgf.1,p.R15S|uc010dgg.2,p.R15S|uc002jog.1,p.R15S|NM_001031803,p.R15S|ENST00000580925,p.R15S|ENST00000580578,p.R15S|uc002joh.3,p.R15S|NM_001015002,p.R15S|ENST00000167462,p.R15S|ENST00000581713,p.R15S|uc002joi.3,p.R15S	retained_intron, protein_coding, nonsense_mediated_decay	uc010dgg.2	nonsynonymous SNV	exon2	c.G45C	p.R15S	RFLRPGHDPVRERLKRDLFQFNKTV	RFLRPGHDPVRESLKRDLFQFNKTV	10.0	5.0	-	-	4252_17:73539552-73539552 G>C_RFLRPGHDPVRESLKRDLFQFNKTV
1:160328006-160328006 C>G	1.0	4252	COLORECTAL	-	-	-	-	NCSTN	NM_001290184,p.A672G|uc001fvx.3,p.A692G|NM_001290186,p.A554G|uc010pjg.2,p.A434G|ENST00000294785,p.A692G|uc010pjf.2,p.A554G|ENST00000368063,p.A672G|ENST00000535857,p.A554G|ENST00000392212,p.A672G|ENST00000368065,p.A434G|uc001fvy.3,p.A672G|NM_015331,p.A692G	protein_coding, processed_transcript	uc010pjg.2	nonsynonymous SNV	exon12	c.C1301G	p.A434G	LIFSLIVTYCINAKADVLFIAPREP	LIFSLIVTYCINGKADVLFIAPREP	9.0	1.0	-	-	4252_1:160328006-160328006 C>G_LIFSLIVTYCINGKADVLFIAPREP
11:72468901-72468901 C>T	1.0	4252	COLORECTAL	-	-	ID=COSM1475880;OCCURENCE=1(breast)	-	STARD10	uc001otb.3,p.R163Q|ENST00000543304,p.R163Q|ENST00000537351,p.R70Q|ENST00000334805,p.R163Q|ENST00000545082,p.R134Q|ENST00000538536,p.R117Q|ENST00000536728,p.R94Q|NM_006645,p.R163Q|ENST00000537947,p.R163Q|uc001osz.4,p.R163Q|uc001ota.3,p.R117Q|ENST00000542989,p.R163Q|ENST00000544767,p.R94Q|uc001osy.3,p.R163Q	retained_intron, protein_coding, processed_transcript, TEC	uc001otb.3	nonsynonymous SNV	exon5	c.G488A	p.R163Q	KHPKYPPRKDLVRAVSIQTGYLIQS	KHPKYPPRKDLVQAVSIQTGYLIQS	10.0	8.0	-	-	4252_11:72468901-72468901 C>T_KHPKYPPRKDLVQAVSIQTGYLIQS
7:120768487-120768487 A>T	0.0	4252	COLORECTAL	-	-	-	-	CPED1	NM_001105533,p.N452Y|ENST00000450913,p.N452Y|uc003vjq.4,p.N452Y|uc003vjr.1,p.N452Y|ENST00000428526,p.N452Y|NM_024913,p.N452Y|ENST00000310396,p.N452Y|ENST00000443817,p.N232Y|ENST00000423795,p.N232Y|uc010lkk.2,p.N232Y|uc003vjs.4,p.N452Y|uc003vjt.4,p.N232Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lkk.2	nonsynonymous SNV	exon7	c.A694T	p.N232Y	KELNQCLSLEEINSIMTFIKELGSL	KELNQCLSLEEIYSIMTFIKELGSL	6.0	2.0	unscreened	-	4252_7:120768487-120768487 A>T_KELNQCLSLEEIYSIMTFIKELGSL
7:4796740-4796740 T>G	1.0	4252	COLORECTAL	-	-	-	-	FOXK1	NM_001037165,p.L389R|ENST00000328914,p.L389R|ENST00000446823,p.L226R|uc003sna.1,p.L226R|uc003snc.1,p.L389R	retained_intron, protein_coding	uc003snc.1	nonsynonymous SNV	exon5	c.T1166G	p.L389R	SFWRIDPASEAKLVEQAFRKRRQRG	SFWRIDPASEAKRVEQAFRKRRQRG	8.0	1.0	-	-	4252_7:4796740-4796740 T>G_SFWRIDPASEAKRVEQAFRKRRQRG
5:114482811-114482811 T>A	1.0	4252	COLORECTAL	-	-	-	-	TRIM36	NM_001300759,p.K181N|uc003kqs.3,p.K193N|ENST00000282369,p.K193N|uc003kqt.3,p.K38N|NM_001300752,p.K38N|ENST00000514154,p.K38N|uc011cwc.2,p.K181N|ENST00000513154,p.K181N|NM_018700,p.K193N	protein_coding, processed_transcript	uc011cwc.2	nonsynonymous SNV	exon3	c.A543T	p.K181N	ECFKIHHPWGTIKAQHEYVGPTTNF	ECFKIHHPWGTINAQHEYVGPTTNF	6.0	10.0	-	-	4252_5:114482811-114482811 T>A_ECFKIHHPWGTINAQHEYVGPTTNF
1:235505714-235505714 T>G	1.0	4252	COLORECTAL	-	-	-	-	GGPS1	uc031psu.1,p.L177R|ENST00000488594,p.L177R|NM_001037277,p.L177R|ENST00000497327,p.L177R|ENST00000358966,p.L177R|ENST00000282841,p.L177R|uc001hww.3,p.L177R|ENST00000476121,p.L177R|uc001hwv.3,p.L177R|ENST00000471812,p.L177R|ENST00000391855,p.L123R|uc001hwx.3,p.L123R	protein_coding, processed_transcript	uc031psu.1	nonsynonymous SNV	exon4	c.T530G	p.L177R	LFSDYKEDLKPLLNTLGLFFQIRDD	LFSDYKEDLKPLRNTLGLFFQIRDD	9.0	3.0	-	-	4252_1:235505714-235505714 T>G_LFSDYKEDLKPLRNTLGLFFQIRDD
X:51638588-51638588 A>G	1.0	4252	COLORECTAL	-	-	-	-	MAGED1	NM_001005333,p.N218S|ENST00000375772,p.N162S|ENST00000375722,p.N162S|NM_001005332,p.N162S|ENST00000375695,p.N218S|NM_006986,p.N162S|uc004dpo.3,p.N162S|uc004dpm.3,p.N162S|ENST00000326587,p.N162S|uc004dpn.3,p.N218S	protein_coding, processed_transcript	uc004dpo.3	nonsynonymous SNV	exon3	c.A485G	p.N162S	NATTKVGPNATYNFSQSLNANDLAN	NATTKVGPNATYSFSQSLNANDLAN	10.0	3.0	-	-	4252_X:51638588-51638588 A>G_NATTKVGPNATYSFSQSLNANDLAN
16:24981867-24981874 ATATTTTG>-	1.0	4252	COLORECTAL	-	-	-	-	ARHGAP17	uc002dnc.3,p.Q76fs|ENST00000289968,p.Q76fs|ENST00000441763,p.Q76fs|ENST00000455311,p.Q75fs|NM_018054,p.Q76fs|ENST00000303665,p.Q76fs|NM_001006634,p.Q76fs|uc002dng.1,p.Q76fs|uc002dnb.3,p.Q76fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dng.1	frameshift deletion	exon4	c.226_233del	p.Q76fs	RRHKKLPLTALAQNMQEASTQLEDS	RRHKKLPLTALAARSIDSAGRLSPGEDAGDVWRC	9.0	3.0	-	-	4252_16:24981867-24981874 ATATTTTG>-_RRHKKLPLTALAARSIDSAGRLSPGEDAGDVWRC
1:59248555-59248555 G>-	1.0	4252	COLORECTAL	-	-	-	1	JUN	uc001cze.3,p.S63fs|NM_002228,p.S63fs|ENST00000371222,p.S63fs	protein_coding	uc001cze.3	frameshift deletion	exon1	c.188delC	p.S63fs	PHLRAKNSDLLTSPDVGLLKLASPE	PHLRAKNSDLLTCPTWGCSSWRRPSWSA	10.0	10.0	unscreened	-	4252_1:59248555-59248555 G>-_PHLRAKNSDLLTCPTWGCSSWRRPSWSA
17:3632772-3632772 T>C	1.0	4252	COLORECTAL	-	-	-	-	ITGAE	NM_002208,p.K971R|uc002fwo.4,p.K971R|ENST00000263087,p.K971R	retained_intron, protein_coding, processed_transcript	uc002fwo.4	nonsynonymous SNV	exon24	c.A2912G	p.K971R	LQFRHGFVAVLSKPSIMYVNTGQGL	LQFRHGFVAVLSRPSIMYVNTGQGL	9.0	3.0	-	-	4252_17:3632772-3632772 T>C_LQFRHGFVAVLSRPSIMYVNTGQGL
12:7026748-7026748 A>C	1.0	4252	COLORECTAL	-	-	-	-	ENO2	NM_001975,p.K105T|uc001qru.1,p.K105T|ENST00000541477,p.K105T|uc009zfi.1,p.K105T|ENST00000229277,p.K105T|ENST00000535366,p.K105T|uc001qrv.1,p.K105T	retained_intron, protein_coding, processed_transcript	uc009zfi.1	nonsynonymous SNV	exon6	c.A314C	p.K105T	LMLELDGTENKSKFGANAILGVSLA	LMLELDGTENKSTFGANAILGVSLA	9.0	1.0	-	-	4252_12:7026748-7026748 A>C_LMLELDGTENKSTFGANAILGVSLA
20:49508381-49508381 A>C	1.0	4252	COLORECTAL	-	-	-	-	ADNP	ENST00000349014,p.V957G|NM_001282531,p.V957G|NM_001282532,p.V957G|NM_181442,p.V957G|uc002xvt.1,p.V957G|uc002xvu.1,p.V957G|ENST00000396032,p.V957G|NM_015339,p.V957G|ENST00000371602,p.V957G|ENST00000396029,p.V957G	protein_coding	uc002xvu.1	nonsynonymous SNV	exon4	c.T2870G	p.V957G	PTKLMHNASDSEVDQDDVVEWKDGA	PTKLMHNASDSEGDQDDVVEWKDGA	9.0	2.0	-	-	4252_20:49508381-49508381 A>C_PTKLMHNASDSEGDQDDVVEWKDGA
3:42251532-42251532 G>A	1.0	4252	COLORECTAL	-	-	-	-	TRAK1	NM_001265608,p.R673Q|ENST00000341421,p.R615Q|uc003cla.4,p.R615Q|NM_001265609,p.R599Q|uc011azh.3,p.R673Q|NM_014965,p.R615Q|uc011azj.3,p.R599Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc011azj.3	nonsynonymous SNV	exon13	c.G1796A	p.R599Q	RVTVSGSRSYPSRPQASPEEMQEPP	RVTVSGSRSYPSQPQASPEEMQEPP	9.0	1.0	-	-	4252_3:42251532-42251532 G>A_RVTVSGSRSYPSQPQASPEEMQEPP
22:28503972-28503972 G>C	0.0	4252	COLORECTAL	-	-	-	-	TTC28	NM_001145418,p.L621V|ENST00000397906,p.L621V|uc003adp.4,p.L621V	retained_intron, protein_coding, processed_transcript	uc003adp.4	nonsynonymous SNV	exon7	c.C1861G	p.L621V	EYVQAAPYYEQYLRLAPDLQDMEGE	EYVQAAPYYEQYVRLAPDLQDMEGE	6.0	10.0	-	-	4252_22:28503972-28503972 G>C_EYVQAAPYYEQYVRLAPDLQDMEGE
4:41607996-41607996 A>G	1.0	4252	COLORECTAL	-	-	-	-	LIMCH1	ENST00000313860,p.E154G|ENST00000512946,p.E154G|uc003gvx.4,p.E154G|uc003gwe.4,p.E154G|ENST00000512632,p.E154G|uc003gvv.4,p.E154G|uc003gvu.4,p.E154G|NM_014988,p.E154G|NM_001112718,p.E154G|ENST00000512820,p.E154G|ENST00000508501,p.E154G|NM_001289122,p.E154G|NM_001112717,p.E154G|uc003gvw.4,p.E154G	protein_coding, processed_transcript	uc003gwe.4	nonsynonymous SNV	exon6	c.A461G	p.E154G	SYSGTTLNLKEFEGLLAQMRKDTDD	SYSGTTLNLKEFGGLLAQMRKDTDD	7.0	10.0	-	-	4252_4:41607996-41607996 A>G_SYSGTTLNLKEFGGLLAQMRKDTDD
19:5206811-5206811 C>T	1.0	4252	COLORECTAL	-	-	-	-	PTPRS	uc010xin.2,p.G1483R|uc002mby.3,p.G1494R|ENST00000592099,p.G1494R|uc002mbx.3,p.G1498R|uc002mbv.3,p.G1941R|ENST00000357368,p.G1941R|ENST00000588012,p.G1903R|NM_130854,p.G1903R|NM_002850,p.G1941R|ENST00000372412,p.G1942R|ENST00000353284,p.G1494R|NM_130855,p.G1498R|ENST00000262963,p.G1921R|ENST00000348075,p.G1903R|uc002mbw.3,p.G1903R|NM_130853,p.G1494R|ENST00000587303,p.G1941R	retained_intron, protein_coding, processed_transcript	uc010xin.2	nonsynonymous SNV	exon28	c.G4447A	p.G1483R	YQFCYQAALEYLGSFDHYAT	YQFCYQAALEYLRSFDHYAT	5.0	9.0	-	-	4252_19:5206811-5206811 C>T_YQFCYQAALEYLRSFDHYAT
1:28807116-28807116 G>T	1.0	4252	COLORECTAL	-	-	-	-	PHACTR4	uc001bpy.3,p.R597L|ENST00000373836,p.R597L|NM_001048183,p.R587L|uc001bpw.3,p.R587L|uc001bpx.3,p.R571L|NM_023923,p.R597L|ENST00000373839,p.R587L	protein_coding, processed_transcript	uc001bpy.3	nonsynonymous SNV	exon8	c.G1790T	p.R597L	NEIRHQIGNTLIRRLSQRPTPEELE	NEIRHQIGNTLILRLSQRPTPEELE	7.0	9.0	-	-	4252_1:28807116-28807116 G>T_NEIRHQIGNTLILRLSQRPTPEELE
11:5624873-5624873 G>T	0.0	4252	COLORECTAL	-	-	-	-	TRIM6,TRIM6-TRIM34	ENST00000380107,p.D85Y|uc009yeo.2,p.D85Y	protein_coding	uc009yeo.2	nonsynonymous SNV	exon3	c.G253T	p.D85Y	HLANIVRRLREEDGKVICWLCERSQ	HLANIVRRLREEYGKVICWLCERSQ	7.0	9.0	unscreened	-	4252_11:5624873-5624873 G>T_HLANIVRRLREEYGKVICWLCERSQ
9:96051649-96051649 C>T	1.0	4252	COLORECTAL	-	-	-	2	WNK2	ENST00000297954,p.P1575L|NM_006648,p.P1538L|ENST00000427277,p.P1150L|uc004ati.1,p.P1575L|ENST00000349097,p.P1187L|ENST00000395477,p.P1538L|uc004atj.3,p.P1538L|uc011lud.1,p.P1538L|uc004atl.1,p.P133L|uc004atk.3,p.P1175L|NM_001282394,p.P1575L	retained_intron, protein_coding, processed_transcript	uc011lud.1	nonsynonymous SNV	exon19	c.C4613T	p.P1538L	QPPSALESDGEGPPPRVGFVDSTIK	QPPSALESDGEGLPPRVGFVDSTIK	10.0	8.0	-	-	4252_9:96051649-96051649 C>T_QPPSALESDGEGLPPRVGFVDSTIK
16:49670811-49670811 C>T	0.0	4252	COLORECTAL	-	-	ID=COSM1378094,COSM1378095;OCCURENCE=1(large_intestine)	-	ZNF423	uc031qwe.1,p.R691H|ENST00000563137,p.R691H|ENST00000535559,p.R634H|NM_015069,p.R751H|ENST00000561648,p.R751H|ENST00000262383,p.R751H|NM_001271620,p.R691H|uc031qwd.1,p.R751H|ENST00000567169,p.R634H|ENST00000562871,p.R691H|uc010vgn.3,p.R634H|ENST00000562520,p.R691H	retained_intron, protein_coding	uc031qwe.1	nonsynonymous SNV	exon4	c.G2072A	p.R691H	LAVKHSNEKKMYRCTACNWDFRKEA	LAVKHSNEKKMYHCTACNWDFRKEA	7.0	1.0	unscreened	-	4252_16:49670811-49670811 C>T_LAVKHSNEKKMYHCTACNWDFRKEA
11:5624873-5624873 G>T	0.0	4252	COLORECTAL	-	-	-	-	TRIM6,TRIM6-TRIM34	NM_001003819,p.D139Y|uc001mbc.2,p.D111Y|NM_058166,p.D111Y|ENST00000278302,p.D111Y|NM_001003818,p.D139Y|ENST00000380097,p.D139Y|ENST00000354852,p.D139Y|uc001mbd.3,p.D139Y|uc001mbf.3,p.D139Y	protein_coding	uc001mbf.3	nonsynonymous SNV	exon2	c.G415T	p.D139Y	DHGEKLQLFCQEDGKVICWLCERSQ	DHGEKLQLFCQEYGKVICWLCERSQ	7.0	9.0	-	-	4252_11:5624873-5624873 G>T_DHGEKLQLFCQEYGKVICWLCERSQ
16:69349957-69349957 A>G	1.0	4252	COLORECTAL	-	-	-	-	VPS4A	uc002eww.3,p.K23R|NM_013245,p.K23R|ENST00000254950,p.K23R|ENST00000570054,p.K47R	 processed_transcript, protein_coding,retained_intron	uc002eww.3	nonsynonymous SNV	exon2	c.A68G	p.K23R	DLVTKATEEDKAKNYEEALRLYQHA	DLVTKATEEDKARNYEEALRLYQHA	9.0	2.0	-	-	4252_16:69349957-69349957 A>G_DLVTKATEEDKARNYEEALRLYQHA
2:74709861-74709861 C>G	1.0	4252	COLORECTAL	-	-	-	-	CCDC142	NM_032779,p.R35P|ENST00000393965,p.R35P|ENST00000290418,p.R35P|uc002slp.2,p.R35P|uc002slq.3,p.R35P|uc002slr.3,p.R35P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002slr.3	nonsynonymous SNV	exon1	c.G104C	p.R35P	PGGTGEEQWERSRTGGLRWEVHCWP	PGGTGEEQWERSPTGGLRWEVHCWP	8.0	6.0	-	-	4252_2:74709861-74709861 C>G_PGGTGEEQWERSPTGGLRWEVHCWP
8:25303747-25303747 G>C	1.0	4252	COLORECTAL	-	-	-	-	KCTD9	ENST00000221200,p.T23S|uc003xeo.3,p.T23S|ENST00000519665,p.T23S|ENST00000523140,p.T23S|NM_017634,p.T23S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xeo.3	nonsynonymous SNV	exon2	c.C68G	p.T23S	SPKNGKVVAVYGTLSDLLSVASSKL	SPKNGKVVAVYGSLSDLLSVASSKL	8.0	4.0	-	-	4252_8:25303747-25303747 G>C_SPKNGKVVAVYGSLSDLLSVASSKL
5:140726077-140726077 T>C	0.0	4252	COLORECTAL	-	-	-	-	PCDHGA3	NM_032011,p.I826T|uc011dap.2,p.I826T	protein_coding	uc011dap.2	nonsynonymous SNV	exon1	c.T2477C	p.I826T	SLIIKNKYENVVIIKL	SLIIKNKYENVVTIKL	7.0	3.0	unscreened	-	4252_5:140726077-140726077 T>C_SLIIKNKYENVVTIKL
20:57429288-57429288 T>C	0.0	4252	COLORECTAL	-	-	-	1	GNAS	uc002xzw.3,p.V323A|ENST00000371102,p.V323A|ENST00000371099,p.V323A|NM_080425,p.V323A|ENST00000371100,p.V323A	retained_intron, protein_coding, processed_transcript	uc002xzw.3	nonsynonymous SNV	exon1	c.T968C	p.V323A	IGSAPAGVDDTPVNMDSPPIALDGP	IGSAPAGVDDTPANMDSPPIALDGP	10.0	6.0	-	-	4252_20:57429288-57429288 T>C_IGSAPAGVDDTPANMDSPPIALDGP
8:66631592-66631624 CTGCTCGACTGTTCTCTCTGCAGTCCCTTCCAG>-	0.0	4252	COLORECTAL	-	-	-	-	PDE7A	ENST00000521247,p.S128fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000521247	frameshift deletion	exon3	c.382_391del	p.S128fs	KSESEATSERVLSLPAGFIQPHVSK	KSESEATSERVLLALFSPTCPSIVWD	8.0	6.0	unscreened	-	4252_8:66631592-66631624 CTGCTCGACTGTTCTCTCTGCAGTCCCTTCCAG>-_KSESEATSERVLLALFSPTCPSIVWD
22:31289137-31289137 A>C	0.0	4252	COLORECTAL	-	-	-	-	OSBP2	uc010gwd.1,p.H178P|NM_001282739,p.H632P|ENST00000403222,p.H467P|uc003aiz.1,p.H632P|uc011ald.1,p.H177P|uc003aiy.1,p.H633P|NM_001282740,p.H266P|ENST00000401475,p.H266P|ENST00000452656,p.H264P|uc003aja.1,p.H266P|NM_001282738,p.H467P|uc011alc.2,p.H375P|uc011ala.1,p.H467P|NM_001282742,p.H177P|ENST00000535268,p.H177P|ENST00000446658,p.H632P|ENST00000407373,p.H460P|NM_001282741,p.H375P|uc011alb.1,p.H584P|NM_030758,p.H633P|uc010gwc.1,p.H460P|ENST00000382310,p.H584P|ENST00000437268,p.H375P|ENST00000332585,p.H633P	protein_coding, processed_transcript	uc011ald.1	nonsynonymous SNV	exon7	c.A530C	p.H177P	CEQVSHHPPSAAHYVFSKHGWSLWQ	CEQVSHHPPSAAPYVFSKHGWSLWQ	6.0	10.0	-	-	4252_22:31289137-31289137 A>C_CEQVSHHPPSAAPYVFSKHGWSLWQ
6:105239388-105239388 C>A	1.0	4252	COLORECTAL	-	-	-	-	HACE1	NM_020771,p.Q355H|uc003pqu.1,p.Q355H|ENST00000262903,p.Q355H|ENST00000369125,p.Q355H|uc010kcz.1,p.Q355H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kcz.1	nonsynonymous SNV	exon11	c.G1065T	p.Q355H	DMGYNGNKTPRSQVFKPLELLWHSL	DMGYNGNKTPRSHVFKPLELLWHSL	6.0	7.0	-	-	4252_6:105239388-105239388 C>A_DMGYNGNKTPRSHVFKPLELLWHSL
20:50701700-50701700 T>C	1.0	4252	COLORECTAL	-	-	-	-	ZFP64	NM_199427,p.E445G|uc002xwj.3,p.E226G|ENST00000361387,p.E445G|uc002xwk.3,p.E445G|ENST00000371523,p.E226G	protein_coding, processed_transcript	uc002xwk.3	nonsynonymous SNV	exon9	c.A1334G	p.E445G	MIVHSGEKPFKCEFCDVRCTMKANL	MIVHSGEKPFKCGFCDVRCTMKANL	8.0	1.0	-	-	4252_20:50701700-50701700 T>C_MIVHSGEKPFKCGFCDVRCTMKANL
X:17819221-17819221 G>A	1.0	4252	COLORECTAL	-	-	-	-	RAI2	NM_001172739,p.R304C|NM_001172743,p.R304C|uc022btm.1,p.R304C|ENST00000415486,p.R254C|uc011miy.2,p.R254C|ENST00000545871,p.R304C|ENST00000360011,p.R304C|NM_021785,p.R304C|ENST00000451717,p.R304C|uc022btl.1,p.R304C|ENST00000331511,p.R304C|uc010nfa.3,p.R304C|uc004cyf.3,p.R304C|uc004cyh.4,p.R304C|NM_001172732,p.R254C|uc004cyg.3,p.R304C	protein_coding	uc022btm.1	nonsynonymous SNV	exon1	c.C910T	p.R304C	DILQPKEYFQLSRHTVIKMGSENEA	DILQPKEYFQLSCHTVIKMGSENEA	7.0	10.0	-	-	4252_X:17819221-17819221 G>A_DILQPKEYFQLSCHTVIKMGSENEA
8:103335610-103335610 G>C	1.0	4252	COLORECTAL	-	-	-	1	UBR5	ENST00000521922,p.S565R|NM_015902,p.S571R|NM_001282873,p.S571R|ENST00000220959,p.S571R|uc003ykr.2,p.S571R|uc003yks.2,p.S571R|ENST00000520539,p.S571R	retained_intron, protein_coding, processed_transcript	uc003yks.2	nonsynonymous SNV	exon14	c.C1713G	p.S571R	GVLMESVWNMNDSCRFQLRSPESLK	GVLMESVWNMNDRCRFQLRSPESLK	9.0	7.0	-	-	4252_8:103335610-103335610 G>C_GVLMESVWNMNDRCRFQLRSPESLK
1:46489651-46489651 A>C	1.0	4252	COLORECTAL	-	-	-	-	MAST2	uc009vya.3,p.E515D	protein_coding, processed_transcript	uc009vya.3	nonsynonymous SNV	exon14	c.A1545C	p.E515D	TKRHLCMVMEYVEGTEAKVAWHGGQ	TKRHLCMVMEYVDGTEAKVAWHGGQ	8.0	8.0	-	-	4252_1:46489651-46489651 A>C_TKRHLCMVMEYVDGTEAKVAWHGGQ
9:136320666-136320666 C>T	0.0	4252	COLORECTAL	-	-	-	-	ADAMTS13	uc004cdv.4,p.S1170F|ENST00000371929,p.S1170F|uc004cdz.4,p.S840F|NM_139025,p.S1170F	protein_coding, processed_transcript, nonsense_mediated_decay	uc004cdz.4	nonsynonymous SNV	exon18	c.C2519T	p.S840F	SLEWSQARGLLFSPAPQPRRLLPGP	SLEWSQARGLLFFPAPQPRRLLPGP	6.0	4.0	unscreened	-	4252_9:136320666-136320666 C>T_SLEWSQARGLLFFPAPQPRRLLPGP
3:183900656-183900656 G>C	1.0	4252	COLORECTAL	-	-	-	-	AP2M1	ENST00000411763,p.E416D|ENST00000382456,p.E389D|ENST00000292807,p.E391D|ENST00000439647,p.E389D|uc021xig.1,p.E391D|uc003fmw.3,p.E389D|NM_001025205,p.E389D|uc011bqy.2,p.E261D	retained_intron, protein_coding, processed_transcript	uc021xig.1	nonsynonymous SNV	exon10	c.G1173C	p.E391D	KKWARPPISMNFEVPFAPSGLKVRY	KKWARPPISMNFDVPFAPSGLKVRY	10.0	5.0	-	-	4252_3:183900656-183900656 G>C_KKWARPPISMNFDVPFAPSGLKVRY
5:37108501-37108501 T>G	0.0	4252	COLORECTAL	-	-	-	-	C5orf42	uc011coz.1,p.K2197T|uc011cpa.1,p.K3104T|ENST00000425232,p.K3104T|ENST00000508244,p.K3104T|ENST00000274258,p.K2002T|uc003jko.1,p.K135T|NM_023073,p.K3104T|uc011coy.1,p.K1622T|ENST00000514429,p.K2170T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cpa.1	nonsynonymous SNV	exon51	c.A9311C	p.K3104T	KKHGSAGLAPQTKQVCVEYEREETV	KKHGSAGLAPQTTQVCVEYEREETV	6.0	3.0	unscreened	-	4252_5:37108501-37108501 T>G_KKHGSAGLAPQTTQVCVEYEREETV
6:39867919-39867919 T>G	0.0	4252	COLORECTAL	-	-	-	-	DAAM2	NM_001201427,p.F916V|ENST00000538976,p.F915V|uc003oow.3,p.F916V|ENST00000398904,p.F916V|ENST00000274867,p.F916V|uc003oox.3,p.F915V|NM_015345,p.F915V	retained_intron, protein_coding, processed_transcript	uc003oox.3	nonsynonymous SNV	exon23	c.T2743G	p.F915V	EPSDKFVPVMSDFITVSSFSFSELE	EPSDKFVPVMSDVITVSSFSFSELE	6.0	6.0	unscreened	-	4252_6:39867919-39867919 T>G_EPSDKFVPVMSDVITVSSFSFSELE
1:220335551-220335551 A>C	0.0	4252	COLORECTAL	-	-	-	-	RAB3GAP2	NM_012414,p.L1072V|uc010puk.1,p.L1072V|uc001hmg.2,p.L652V|ENST00000358951,p.L1072V|uc021pjf.1,p.L1072V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pjf.1	nonsynonymous SNV	exon28	c.T3214G	p.L1072V	TFLVKRFSAATYLMDKVGKSPKDRL	TFLVKRFSAATYVMDKVGKSPKDRL	8.0	5.0	unscreened	-	4252_1:220335551-220335551 A>C_TFLVKRFSAATYVMDKVGKSPKDRL
12:133733509-133733509 C>A	1.0	4252	COLORECTAL	-	-	-	-	ZNF10	uc001ulq.3,p.N559K|NM_015394,p.N559K|ENST00000426665,p.N559K|ENST00000248211,p.N559K|uc009zzb.3,p.N559K|ENST00000402932,p.N425K	protein_coding, processed_transcript	uc009zzb.3	nonsynonymous SNV	exon5	c.C1677A	p.N559K	CNQCGTALVNTSNLIGYQTNHIREN	CNQCGTALVNTSKLIGYQTNHIREN	6.0	7.0	-	-	4252_12:133733509-133733509 C>A_CNQCGTALVNTSKLIGYQTNHIREN
17:33321343-33321343 G>C	1.0	4252	COLORECTAL	-	-	-	-	LIG3	ENST00000262327,p.G502R|uc002hij.3,p.G502R|ENST00000585941,p.G511R|ENST00000378526,p.G502R|NM_013975,p.G502R|uc002hik.2,p.G502R|uc010cth.1,p.G511R|NM_002311,p.G502R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cth.1	nonsynonymous SNV	exon9	c.G1531C	p.G511R	KSVEYAMKKCPNGMFSEIKYDGERV	KSVEYAMKKCPNRMFSEIKYDGERV	7.0	6.0	-	-	4252_17:33321343-33321343 G>C_KSVEYAMKKCPNRMFSEIKYDGERV
1:169847938-169847938 G>T	1.0	4252	COLORECTAL	-	-	-	-	SCYL3	uc001ggt.3,p.P63H|NM_020423,p.P63H|ENST00000367770,p.P63H|ENST00000367771,p.P63H|ENST00000423670,p.P63H|uc001ggs.3,p.P63H|NM_181093,p.P63H|ENST00000367772,p.P63H	protein_coding, processed_transcript	uc001ggt.3	nonsynonymous SNV	exon3	c.C188A	p.P63H	NKAAKHLKTLRHPCLLRFLSCTVEA	NKAAKHLKTLRHHCLLRFLSCTVEA	7.0	9.0	-	-	4252_1:169847938-169847938 G>T_NKAAKHLKTLRHHCLLRFLSCTVEA
X:138845508-138845522 CATCATTGGCACCAT>-	0.0	4252	COLORECTAL	-	-	-	-	ATP11C	uc004faz.3,p.819_824del|ENST00000361648,p.819_824del|uc004fax.3,p.27_32del|ENST00000370543,p.819_824del|uc004fba.3,p.819_824del|NM_173694,p.819_824del|ENST00000359686,p.819_824del|ENST00000327569,p.819_824del|NM_001010986,p.819_824del	protein_coding, processed_transcript	uc004fba.3	nonframeshift deletion	exon21	c.2456_2470del	p.819_824del	NLKGSPITLSIGDGANDVSMILESH	NLKGSPITLSIGVSMILESHVGIGI	7.0	2.0	unscreened	-	4252_X:138845508-138845522 CATCATTGGCACCAT>-_NLKGSPITLSIGVSMILESHVGIGI
14:20779745-20779745 T>G	1.0	4252	COLORECTAL	-	-	-	1	CCNB1IP1	ENST00000398160,p.Q266H|NM_182852,p.Q266H|NM_021178,p.Q266H|uc021rnp.2,p.Q266H|ENST00000437553,p.Q266H|NM_182849,p.Q266H|uc001vwy.4,p.Q266H|uc001vwz.4,p.Q266H|uc001vwv.4,p.Q266H|ENST00000353689,p.Q266H|ENST00000398169,p.Q266H|uc001vwx.4,p.Q266H|ENST00000398163,p.Q266H|ENST00000358932,p.Q266H	protein_coding, processed_transcript, nonsense_mediated_decay	uc021rnp.2	nonsynonymous SNV	exon8	c.A798C	p.Q266H	SFVSPSRELEQQQVSSRAFKVKRI	SFVSPSRELEQQHVSSRAFKVKRI	10.0	8.0	-	-	4252_14:20779745-20779745 T>G_SFVSPSRELEQQHVSSRAFKVKRI
17:7809207-7809207 T>C	1.0	4252	COLORECTAL	-	-	-	-	CHD3	uc002gje.2,p.F1420L|NM_005852,p.F1420L|ENST00000330494,p.F1420L|ENST00000380358,p.F1479L|ENST00000358181,p.F1420L|NM_001005273,p.F1420L|uc002gjd.2,p.F1479L|NM_001005271,p.F1479L|uc002gjf.2,p.F1420L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gjf.2	nonsynonymous SNV	exon28	c.T4258C	p.F1420L	EVLGFNTRQRKAFLNAVMRWGMPPQ	EVLGFNTRQRKALLNAVMRWGMPPQ	10.0	5.0	-	-	4252_17:7809207-7809207 T>C_EVLGFNTRQRKALLNAVMRWGMPPQ
11:94340765-94340765 C>G	1.0	4252	COLORECTAL	-	-	-	-	PIWIL4	uc001pfa.3,p.T600S|NM_152431,p.T600S|ENST00000299001,p.T600S	protein_coding, nonsense_mediated_decay	uc001pfa.3	nonsynonymous SNV	exon14	c.C1799G	p.T600S	MMSIATKIAMQMTCKLGGELWAVEI	MMSIATKIAMQMSCKLGGELWAVEI	8.0	7.0	-	-	4252_11:94340765-94340765 C>G_MMSIATKIAMQMSCKLGGELWAVEI
12:131589403-131589403 T>C	0.0	4252	COLORECTAL	-	-	-	-	GPR133	uc001uit.4,p.S567P|NM_198827,p.S567P|ENST00000535015,p.S599P|ENST00000376682,p.S253P|uc010tbm.2,p.S599P|ENST00000543617,p.S86P|ENST00000261654,p.S567P|uc001uiv.1,p.S86P	retained_intron, protein_coding, processed_transcript	uc010tbm.2	nonsynonymous SNV	exon17	c.T1795C	p.S599P	PLELARGHQVALSSISYVGCSLSVL	PLELARGHQVALPSISYVGCSLSVL	6.0	2.0	unscreened	-	4252_12:131589403-131589403 T>C_PLELARGHQVALPSISYVGCSLSVL
X:138845508-138845522 CATCATTGGCACCAT>-	0.0	4252	COLORECTAL	-	-	-	-	ATP11C	ENST00000370557,p.816_821del	protein_coding, processed_transcript	ENST00000370557	nonframeshift deletion	exon21	c.2447_2461del	p.816_821del	NLKGSPITLSIGDGANDVSMILESH	NLKGSPITLSIGVSMILESHVGIGK	7.0	2.0	unscreened	-	4252_X:138845508-138845522 CATCATTGGCACCAT>-_NLKGSPITLSIGVSMILESHVGIGK
2:160706902-160706902 A>C	1.0	4252	COLORECTAL	-	-	-	-	LY75,LY75-CD302	NM_001198759,p.L987R|ENST00000505052,p.L987R|NM_001198760,p.L987R|ENST00000553424,p.L987R|uc002ubb.4,p.L987R|ENST00000504764,p.L987R|NM_002349,p.L987R|uc002ubc.4,p.L987R|ENST00000554112,p.L987R|ENST00000263636,p.L987R|uc010fos.3,p.L987R	retained_intron, protein_coding, processed_transcript	uc010fos.3	nonsynonymous SNV	exon22	c.T2960G	p.L987R	QASDTCHSYGGTLPSVLSQIEQDFI	QASDTCHSYGGTRPSVLSQIEQDFI	8.0	1.0	-	-	4252_2:160706902-160706902 A>C_QASDTCHSYGGTRPSVLSQIEQDFI
20:32026691-32026691 G>A	1.0	4252	COLORECTAL	-	-	-	-	SNTA1	uc002wzd.1,p.A151V|ENST00000217381,p.A151V|NM_003098,p.A151V|uc010zuf.1,p.A151V	protein_coding	uc010zuf.1	nonsynonymous SNV	exon2	c.C452T	p.A151V	NGEDLSSATHDEAVQVLKKTGKEVV	NGEDLSSATHDEVVQVLKKTGKEVV	7.0	7.0	-	-	4252_20:32026691-32026691 G>A_NGEDLSSATHDEVVQVLKKTGKEVV
7:73115258-73115258 G>C	1.0	4252	COLORECTAL	-	-	-	-	STX1A	uc010lbj.2,p.Q228E	retained_intron, protein_coding, processed_transcript	uc010lbj.2	nonsynonymous SNV	exon9	c.C682G	p.Q228E	FMDMAMLVESQPQGAFLKSCPEPQP	FMDMAMLVESQPEGAFLKSCPEPQP	7.0	9.0	-	-	4252_7:73115258-73115258 G>C_FMDMAMLVESQPEGAFLKSCPEPQP
6:163735867-163735867 G>A	1.0	4252	COLORECTAL	-	-	-	-	PACRG	ENST00000337019,p.G247R|uc003qua.3,p.G247R|NM_152410,p.G247R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003qua.3	nonsynonymous SNV	exon7	c.G739A	p.G247R	SASQVAEIIVNSGDGIDYSQQKREN	SASQVAEIIVNSRDGIDYSQQKREN	6.0	8.0	-	-	4252_6:163735867-163735867 G>A_SASQVAEIIVNSRDGIDYSQQKREN
15:83735582-83735582 A>T	1.0	4252	COLORECTAL	-	-	-	-	BTBD1	NM_025238,p.F108I|uc002bjo.3,p.F108I|ENST00000261721,p.F108I|ENST00000379403,p.F108I|NM_001011885,p.F108I|uc002bjn.3,p.F108I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bjo.3	nonsynonymous SNV	exon1	c.T322A	p.F108I	VLAAGSAVFDAMFNGGMATTSAEIE	VLAAGSAVFDAMINGGMATTSAEIE	9.0	4.0	-	-	4252_15:83735582-83735582 A>T_VLAAGSAVFDAMINGGMATTSAEIE
6:43183972-43183972 T>G	0.0	4252	COLORECTAL	-	-	-	-	CUL9	ENST00000252050,p.L2005V|uc010jyk.3,p.L1157V|ENST00000372647,p.L1977V|uc003ouk.3,p.L2005V|ENST00000506830,p.L139V|NM_015089,p.L2005V|uc003oul.3,p.L1977V|ENST00000354495,p.L1895V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jyk.3	nonsynonymous SNV	exon30	c.T3469G	p.L1157V	AGRTMSPQEVEGLMKQTVRQVQETL	AGRTMSPQEVEGVMKQTVRQVQETL	9.0	1.0	unscreened	-	4252_6:43183972-43183972 T>G_AGRTMSPQEVEGVMKQTVRQVQETL
8:52811616-52811616 C>T	0.0	4252	COLORECTAL	-	-	-	-	PCMTD1	NM_001286782,p.G19E|ENST00000544451,p.G19E|uc010lya.3,p.G19E	retained_intron, protein_coding, processed_transcript	uc010lya.3	nonsynonymous SNV	exon1	c.G56A	p.G19E	LRSPGGSGCSSRGSGPRLSTRRWRP	LRSPGGSGCSSRESGPRLSTRRWRP	8.0	2.0	unscreened	-	4252_8:52811616-52811616 C>T_LRSPGGSGCSSRESGPRLSTRRWRP
1:59248558-59248558 G>T	1.0	4252	COLORECTAL	-	-	-	1	JUN	ENST00000371222,p.T62N|uc001cze.3,p.T62N|NM_002228,p.T62N	protein_coding	uc001cze.3	nonsynonymous SNV	exon1	c.C185A	p.T62N	KPHLRAKNSDLLTSPDVGLLKLASP	KPHLRAKNSDLLNSPDVGLLKLASP	10.0	10.0	unscreened	-	4252_1:59248558-59248558 G>T_KPHLRAKNSDLLNSPDVGLLKLASP
22:17585700-17585700 G>A	0.0	4252	COLORECTAL	-	-	-	-	IL17RA	uc002zly.4,p.E311K|ENST00000319363,p.E311K|NM_014339,p.E311K	retained_intron, protein_coding, processed_transcript	uc002zly.4	nonsynonymous SNV	exon9	c.G931A	p.E311K	ATVSCPEMPDTPEPIPDYMPLWVYW	ATVSCPEMPDTPKPIPDYMPLWVYW	7.0	6.0	unscreened	-	4252_22:17585700-17585700 G>A_ATVSCPEMPDTPKPIPDYMPLWVYW
7:80292314-80292314 C>A	1.0	4252	COLORECTAL	-	-	-	-	CD36	ENST00000441034,p.P84T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000441034	nonsynonymous SNV	exon3	c.C250A	p.P84T	NPQEVMMNSSCIPYLSKSICSNDPQ	NPQEVMMNSSCITYLSKSICSNDPQ	7.0	9.0	-	-	4252_7:80292314-80292314 C>A_NPQEVMMNSSCITYLSKSICSNDPQ
11:62286000-62286000 C>G	0.0	4252	COLORECTAL	-	-	-	-	AHNAK	uc001ntl.3,p.V5297L|ENST00000378024,p.V5297L|NM_001620,p.V5297L	protein_coding, processed_transcript	uc001ntl.3	nonsynonymous SNV	exon5	c.G15889C	p.V5297L	VDLPSVNLSMPKVSGPDLDLNLKGP	VDLPSVNLSMPKLSGPDLDLNLKGP	8.0	5.0	unscreened	-	4252_11:62286000-62286000 C>G_VDLPSVNLSMPKLSGPDLDLNLKGP
20:45000544-45000544 T>G	1.0	4252	COLORECTAL	-	-	-	-	ELMO2	uc002xrs.1,p.Q241P|uc010zxs.1,p.Q311P|NM_182764,p.Q494P|ENST00000396391,p.Q494P|ENST00000290246,p.Q494P|ENST00000454865,p.Q226P|ENST00000445496,p.Q311P|ENST00000452857,p.Q61P|ENST00000352077,p.Q492P|uc010zxr.1,p.Q506P|uc002xrv.1,p.Q213P|uc002xrt.1,p.Q494P|uc002xru.1,p.Q494P|uc010zxq.1,p.Q226P|ENST00000372176,p.Q406P|ENST00000439931,p.Q506P|NM_133171,p.Q494P	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zxs.1	nonsynonymous SNV	exon15	c.A932C	p.Q311P	TRALPSKPNSLDQFKSKLRSLSYSE	TRALPSKPNSLDPFKSKLRSLSYSE	9.0	2.0	-	-	4252_20:45000544-45000544 T>G_TRALPSKPNSLDPFKSKLRSLSYSE
12:129308380-129308380 A>G	0.0	4252	COLORECTAL	-	-	-	-	SLC15A4	ENST00000266771,p.C37R|uc001uhu.2,p.C37R|NM_145648,p.C37R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uhu.2	nonsynonymous SNV	exon1	c.T109C	p.C37R	AAAGAFAGRRAACGAVLLTELLERA	AAAGAFAGRRAARGAVLLTELLERA	8.0	4.0	unscreened	-	4252_12:129308380-129308380 A>G_AAAGAFAGRRAARGAVLLTELLERA
X:40539344-40539344 T>A	0.0	4252	COLORECTAL	-	-	-	-	MED14	uc004dex.4,p.K884N|NM_004229,p.K884N|ENST00000324817,p.K884N	protein_coding, processed_transcript	uc004dex.4	nonsynonymous SNV	exon21	c.A2652T	p.K884N	LFDTQAPLNAINKLPTVPMLGLTQR	LFDTQAPLNAINNLPTVPMLGLTQR	8.0	3.0	-	-	4252_X:40539344-40539344 T>A_LFDTQAPLNAINNLPTVPMLGLTQR
19:58846380-58846380 G>T	0.0	4252	COLORECTAL	-	-	-	-	ZSCAN22	ENST00000329665,p.R71L|uc010yhz.1,p.R71L|NM_181846,p.R71L|uc002qsc.2,p.R71L	protein_coding	uc010yhz.1	nonsynonymous SNV	exon1	c.G212T	p.R71L	EASGPHEALAHLRALCCQWLQPEAH	EASGPHEALAHLLALCCQWLQPEAH	6.0	7.0	-	-	4252_19:58846380-58846380 G>T_EASGPHEALAHLLALCCQWLQPEAH
12:29908763-29908763 A>C	0.0	4252	COLORECTAL	-	-	-	-	TMTC1	NM_001193451,p.F204V|uc001rjb.3,p.F96V|ENST00000551659,p.F204V|ENST00000552618,p.F204V|uc001rjc.1,p.F96V|ENST00000381224,p.F96V|NM_175861,p.F96V|ENST00000539277,p.F204V|ENST00000256062,p.F96V|uc021qwi.1,p.F204V	retained_intron, protein_coding, processed_transcript	uc021qwi.1	nonsynonymous SNV	exon4	c.T610G	p.F204V	VGGSFPSTVSPFFLLLSLFLGTCAM	VGGSFPSTVSPFVLLLSLFLGTCAM	4.0	2.0	unscreened	-	4252_12:29908763-29908763 A>C_VGGSFPSTVSPFVLLLSLFLGTCAM
1:89520423-89520423 T>C	1.0	4252	COLORECTAL	-	-	-	-	GBP1	uc001dmx.2,p.E536G|NM_002053,p.E536G|ENST00000370473,p.E536G	protein_coding, processed_transcript	uc001dmx.2	nonsynonymous SNV	exon10	c.A1607G	p.E536G	YQEHLKQLTEKMENDRVQLLKEQER	YQEHLKQLTEKMGNDRVQLLKEQER	9.0	4.0	-	-	4252_1:89520423-89520423 T>C_YQEHLKQLTEKMGNDRVQLLKEQER
4:76711816-76711816 T>C	1.0	4252	COLORECTAL	-	-	-	-	USO1	uc003hiw.3,p.L204P|ENST00000514213,p.L354P|ENST00000538159,p.L371P|uc003hiv.3,p.L204P	retained_intron, protein_coding	uc003hiw.3	nonsynonymous SNV	exon9	c.T611C	p.L204P	PSNPPRPAIVVLLMSMVNERQPFVL	PSNPPRPAIVVLPMSMVNERQPFVL	9.0	5.0	-	-	4252_4:76711816-76711816 T>C_PSNPPRPAIVVLPMSMVNERQPFVL
3:42705819-42705819 A>C	1.0	4252	COLORECTAL	-	-	-	-	ZBTB47	NM_145166,p.K658T|ENST00000232974,p.K658T|uc003clu.2,p.K658T|ENST00000457842,p.K282T|ENST00000505904,p.K204T	protein_coding	uc003clu.2	nonsynonymous SNV	exon6	c.A1973C	p.K658T	NMKRHRRTHTGEKPYPCDVCGQRFR	NMKRHRRTHTGETPYPCDVCGQRFR	6.0	7.0	-	-	4252_3:42705819-42705819 A>C_NMKRHRRTHTGETPYPCDVCGQRFR
8:90965753-90965753 A>C	1.0	4252	COLORECTAL	-	-	-	1	NBN	ENST00000409330,p.L440V|ENST00000265433,p.L522V|NM_002485,p.L522V|uc003yej.1,p.L522V|uc011lgb.1,p.L522V|uc003yei.1,p.L440V	retained_intron, protein_coding, nonsense_mediated_decay	uc011lgb.1	nonsynonymous SNV	exon11	c.T1564G	p.L522V	ENEPVDTNSDNNLFTDTDLKSIVKN	ENEPVDTNSDNNVFTDTDLKSIVKN	8.0	3.0	-	-	4252_8:90965753-90965753 A>C_ENEPVDTNSDNNVFTDTDLKSIVKN
11:6422902-6422902 C>G	1.0	4252	COLORECTAL	-	-	-	-	APBB1	ENST00000389906,p.A469P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000389906	nonsynonymous SNV	exon9	c.G1405C	p.A469P	RDSGSNRDFAYVARDKLTQMLKCHV	RDSGSNRDFAYVPRDKLTQMLKCHV	8.0	7.0	unscreened	-	4252_11:6422902-6422902 C>G_RDSGSNRDFAYVPRDKLTQMLKCHV
11:6422902-6422902 C>G	1.0	4252	COLORECTAL	-	-	-	-	APBB1	NM_001164,p.A469P|NM_001257320,p.A210P|NM_001257326,p.A210P|NM_001257319,p.A249P|NM_001257325,p.A234P|NM_001257321,p.A210P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	NM_001257326	nonsynonymous SNV	exon8	c.G628C	p.A210P	RDSGRERDFAYVARDKLTQMLKCHV	RDSGRERDFAYVPRDKLTQMLKCHV	8.0	7.0	unscreened	-	4252_11:6422902-6422902 C>G_RDSGRERDFAYVPRDKLTQMLKCHV
11:6422902-6422902 C>G	1.0	4252	COLORECTAL	-	-	-	-	APBB1	uc010rad.2,p.A186P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rad.2	nonsynonymous SNV	exon3	c.G556C	p.A186P	RCPFPNRDFAYVARDKLTQMLKCHV	RCPFPNRDFAYVPRDKLTQMLKCHV	8.0	7.0	unscreened	-	4252_11:6422902-6422902 C>G_RCPFPNRDFAYVPRDKLTQMLKCHV
11:6422902-6422902 C>G	1.0	4252	COLORECTAL	-	-	-	-	APBB1	NM_001257323,p.A247P|ENST00000311051,p.A467P|ENST00000533407,p.A208P|uc031pyu.1,p.A467P|ENST00000530885,p.A247P|uc001mdc.1,p.A467P|uc001mdd.4,p.A247P|NM_145689,p.A467P|ENST00000299402,p.A467P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pyu.1	nonsynonymous SNV	exon9	c.G1399C	p.A467P	VGRDSGRDFAYVARDKLTQMLKCHV	VGRDSGRDFAYVPRDKLTQMLKCHV	8.0	7.0	-	-	4252_11:6422902-6422902 C>G_VGRDSGRDFAYVPRDKLTQMLKCHV
2:135628543-135628543 G>C	1.0	4252	COLORECTAL	-	-	-	-	ACMSD	ENST00000392928,p.A139P|ENST00000356140,p.A197P|ENST00000283054,p.A139P|uc002ttz.3,p.A197P|NM_138326,p.A197P|uc002tua.3,p.A139P	retained_intron, protein_coding	uc002tua.3	nonsynonymous SNV	exon7	c.G415C	p.A139P	AKYWLPWLVGMPAETTIAICSMIMG	AKYWLPWLVGMPPETTIAICSMIMG	1.0	6.0	-	-	4252_2:135628543-135628543 G>C_AKYWLPWLVGMPPETTIAICSMIMG
7:4900570-4900570 G>A	0.0	4252	COLORECTAL	-	-	-	-	PAPOLB	uc003snk.3,p.P291L|NM_020144,p.P291L|ENST00000404991,p.P290L	protein_coding	uc003snk.3	nonsynonymous SNV	exon1	c.C872T	p.P291L	EWEWPNPVLLKEPEERNLNLPVWDP	EWEWPNPVLLKELEERNLNLPVWDP	1.0	10.0	unscreened	-	4252_7:4900570-4900570 G>A_EWEWPNPVLLKELEERNLNLPVWDP
8:71060589-71060589 C>G	1.0	4252	COLORECTAL	-	-	-	1	NCOA2	NM_006540,p.D842H|ENST00000452400,p.D842H|ENST00000518287,p.D842H|uc003xyn.1,p.D842H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xyn.1	nonsynonymous SNV	exon12	c.G2524C	p.D842H	PAGSVDKQAIINDLMQLTAENSPVT	PAGSVDKQAIINHLMQLTAENSPVT	6.0	1.0	-	-	4252_8:71060589-71060589 C>G_PAGSVDKQAIINHLMQLTAENSPVT
2:97868124-97868124 A>T	1.0	4252	COLORECTAL	-	-	-	-	ANKRD36	ENST00000420699,p.R985W|NM_001164315,p.R985W|ENST00000461153,p.R985W|uc010yva.2,p.R985W	retained_intron, protein_coding	uc010yva.2	nonsynonymous SNV	exon48	c.A2953T	p.R985W	GIARENKDGEKSRTVSSEKPPGLKA	GIARENKDGEKSWTVSSEKPPGLKA	7.0	6.0	-	-	4252_2:97868124-97868124 A>T_GIARENKDGEKSWTVSSEKPPGLKA
9:139794982-139794982 C>A	1.0	4252	COLORECTAL	-	-	-	-	TRAF2	ENST00000359662,p.P126T|uc010nbv.1,p.P126T	protein_coding, processed_transcript	uc010nbv.1	nonsynonymous SNV	exon4	c.C376A	p.P126T	WKGTLKEYEVKMPACGMVTEAPAVG	WKGTLKEYEVKMTACGMVTEAPAVG	9.0	7.0	-	-	4252_9:139794982-139794982 C>A_WKGTLKEYEVKMTACGMVTEAPAVG
19:21720135-21720135 G>T	0.0	4252	COLORECTAL	-	-	-	2	ZNF429	uc002nqd.1,p.C427F|ENST00000358491,p.C427F|NM_001001415,p.C427F	protein_coding, processed_transcript	uc002nqd.1	nonsynonymous SNV	exon4	c.G1280T	p.C427F	DKKIHTGEKPYNCEECGKVFTYSST	DKKIHTGEKPYNFEECGKVFTYSST	7.0	2.0	unscreened	-	4252_19:21720135-21720135 G>T_DKKIHTGEKPYNFEECGKVFTYSST
17:61908399-61908399 C>G	1.0	4252	COLORECTAL	-	-	-	-	PSMC5	ENST00000375812,p.A220G|uc002jcd.3,p.A220G|NM_002805,p.A228G|uc002jcb.3,p.A228G|ENST00000582130,p.A209G|ENST00000581882,p.A220G|NM_001199163,p.A220G|uc010ddy.3,p.A205G|ENST00000584320,p.A220G|ENST00000585123,p.A220G|ENST00000310144,p.A228G|ENST00000580864,p.A220G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ddy.3	nonsynonymous SNV	exon7	c.C614G	p.A205G	GSELVQKFIGEGARMVRELFVMARE	GSELVQKFIGEGGRMVRELFVMARE	10.0	6.0	-	-	4252_17:61908399-61908399 C>G_GSELVQKFIGEGGRMVRELFVMARE
6:170657263-170657263 T>C	1.0	4252	COLORECTAL	-	-	-	-	FAM120B	NM_001286380,p.L704S|NM_001286379,p.L693S|ENST00000537664,p.L704S|uc003qxo.1,p.L681S|NM_001286381,p.L13S|NM_032448,p.L681S|ENST00000476287,p.L681S|uc003qxp.3,p.L681S|ENST00000252510,p.L13S|ENST00000366751,p.L681S|uc011ehd.2,p.L13S|ENST00000540480,p.L693S	protein_coding, processed_transcript, nonsense_mediated_decay	uc011ehd.2	nonsynonymous SNV	exon3	c.T38C	p.L13S	MTIPGGTPSLKILWLNQEPEIQVRR	MTIPGGTPSLKISWLNQEPEIQVRR	9.0	9.0	-	-	4252_6:170657263-170657263 T>C_MTIPGGTPSLKISWLNQEPEIQVRR
1:102270365-102270365 T>G	0.0	4252	COLORECTAL	-	-	-	-	OLFM3	uc001duj.2,p.K194T|NM_001288821,p.K289T|uc001duf.2,p.K289T|ENST00000338858,p.K289T|NM_058170,p.K269T|NM_001288823,p.K194T|ENST00000370103,p.K269T|uc001dug.2,p.K269T	protein_coding, processed_transcript	uc001duj.2	nonsynonymous SNV	exon7	c.A581C	p.K194T	SGAESRTYNLPFKWAGTNHVVYNGS	SGAESRTYNLPFTWAGTNHVVYNGS	1.0	1.0	unscreened	-	4252_1:102270365-102270365 T>G_SGAESRTYNLPFTWAGTNHVVYNGS
3:65415660-65415660 T>G	0.0	4252	COLORECTAL	-	-	-	-	MAGI1	NM_001033057,p.S568R|uc003dmm.3,p.S568R|ENST00000483466,p.S568R|ENST00000402939,p.S568R|NM_004742,p.S568R|NM_015520,p.S568R|uc010hny.2,p.S453R|ENST00000472257,p.S354R|ENST00000497477,p.S568R|ENST00000330909,p.S568R|uc003dmp.3,p.S568R|uc003dmo.3,p.S568R|uc003dmn.3,p.S568R|ENST00000463103,p.S443R	retained_intron, protein_coding, processed_transcript	uc010hny.2	nonsynonymous SNV	exon17	c.A1357C	p.S453R	YPLPFDPDDPNTSLVTSVAILDKEP	YPLPFDPDDPNTRLVTSVAILDKEP	7.0	5.0	unscreened	-	4252_3:65415660-65415660 T>G_YPLPFDPDDPNTRLVTSVAILDKEP
2:110881495-110881495 A>G	1.0	4252	COLORECTAL	-	-	-	-	NPHP1	uc002tfn.4,p.L691P|NM_207181,p.L691P|uc002tfo.4,p.L573P|ENST00000445609,p.L636P|ENST00000316534,p.L692P|NM_001128179,p.L573P|ENST00000355301,p.L573P|uc002tfm.4,p.L636P|uc002tfl.4,p.L692P|NM_001128178,p.L636P|NM_000272,p.L692P|ENST00000417665,p.L670P|ENST00000393272,p.L691P|uc010ywx.2,p.L635P	retained_intron, protein_coding, nonsense_mediated_decay	uc010ywx.2	nonsynonymous SNV	exon20	c.T1904C	p.L635P	TETARWKVITDFLKQNQENQGALQA	TETARWKVITDFPKQNQENQGALQA	8.0	7.0	-	-	4252_2:110881495-110881495 A>G_TETARWKVITDFPKQNQENQGALQA
6:7580043-7580043 G>A	1.0	4252	COLORECTAL	-	-	-	-	DSP	uc021yle.1,p.R1207K|ENST00000379802,p.R1207K|uc003mxp.1,p.R1207K|NM_004415,p.R1207K	retained_intron, protein_coding	uc021yle.1	nonsynonymous SNV	exon23	c.G3620A	p.R1207K	VRNHYNEEMSNLRNKYETEINITKT	VRNHYNEEMSNLKNKYETEINITKT	9.0	8.0	-	-	4252_6:7580043-7580043 G>A_VRNHYNEEMSNLKNKYETEINITKT
2:98834427-98834427 C>T	0.0	4252	COLORECTAL	-	-	-	-	VWA3B	uc010yvi.1,p.T309I|uc002syo.3,p.T652I|uc002sym.3,p.T652I|uc002syp.1,p.T44I|ENST00000477737,p.T652I|NM_144992,p.T652I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yvi.1	nonsynonymous SNV	exon8	c.C926T	p.T309I	IANRFLKEVAALTGGEFHFYNFGCK	IANRFLKEVAALIGGEFHFYNFGCK	5.0	8.0	-	-	4252_2:98834427-98834427 C>T_IANRFLKEVAALIGGEFHFYNFGCK
20:20032949-20032949 G>A	1.0	4252	COLORECTAL	-	-	-	2	CRNKL1	ENST00000377327,p.P162L|ENST00000377340,p.P174L|ENST00000536226,p.P13L|uc002wrt.1,p.P162L|uc002wrs.3,p.P174L|NM_001278625,p.P162L|NM_001278628,p.P13L|NM_016652,p.P174L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002wrt.1	nonsynonymous SNV	exon2	c.C485T	p.P162L	MAASTAAGKQRIPKVAKVKNKAPAE	MAASTAAGKQRILKVAKVKNKAPAE	9.0	4.0	-	-	4252_20:20032949-20032949 G>A_MAASTAAGKQRILKVAKVKNKAPAE
12:133209085-133209085 G>A	1.0	4252	COLORECTAL	-	-	-	1	POLE	uc001ukr.1,p.T853I|ENST00000535270,p.T2022I|uc001ukq.1,p.T259I|NM_006231,p.T2049I|ENST00000320574,p.T2049I|uc001uks.1,p.T2049I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uks.1	nonsynonymous SNV	exon45	c.C6146T	p.T2049I	AEGAVGALPGMITFSQDYVANELTQ	AEGAVGALPGMIIFSQDYVANELTQ	9.0	8.0	-	-	4252_12:133209085-133209085 G>A_AEGAVGALPGMIIFSQDYVANELTQ
17:7226985-7226985 C>G	1.0	4252	COLORECTAL	-	-	-	-	NEURL4	uc002ggc.1,p.W119C|ENST00000399464,p.W773C|NM_032442,p.W773C|ENST00000573186,p.W518C|ENST00000570460,p.W751C|uc002gga.1,p.W773C|ENST00000315614,p.W773C|uc002ggb.1,p.W773C|NM_001005408,p.W773C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ggc.1	nonsynonymous SNV	exon10	c.G357C	p.W119C	LFEIVIQKMVDRWSGSIEAGVTAIR	LFEIVIQKMVDRCSGSIEAGVTAIR	8.0	9.0	-	-	4252_17:7226985-7226985 C>G_LFEIVIQKMVDRCSGSIEAGVTAIR
14:51224935-51224935 A>T	0.0	4252	COLORECTAL	-	-	-	1	NIN	NM_182946,p.L938H|NM_182944,p.L938H|NM_020921,p.L938H|ENST00000476352,p.L938H|ENST00000453196,p.L938H|uc001wyi.3,p.L938H|ENST00000530997,p.L938H|uc001wyo.3,p.L938H|ENST00000245441,p.L938H|ENST00000382041,p.L938H|ENST00000324330,p.L938H|uc001wym.2,p.L938H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wyo.3	nonsynonymous SNV	exon18	c.T2813A	p.L938H	SETQQSLLSDQILELKSSHKRELRE	SETQQSLLSDQIHELKSSHKRELRE	7.0	6.0	unscreened	-	4252_14:51224935-51224935 A>T_SETQQSLLSDQIHELKSSHKRELRE
20:58348469-58348469 A>G	0.0	4252	COLORECTAL	-	-	-	-	PHACTR3	NM_001199506,p.E255G|ENST00000355648,p.E255G|ENST00000395636,p.E255G|ENST00000541461,p.E255G|ENST00000361300,p.E185G|uc002yau.3,p.E296G|ENST00000359926,p.E293G|uc010zzw.2,p.E255G|uc002yav.3,p.E255G|NM_001199505,p.E293G|uc002yax.3,p.E185G|NM_080672,p.E296G|ENST00000395639,p.E185G|NM_183246,p.E185G|ENST00000371015,p.E296G|uc002yaw.3,p.E255G|NM_183244,p.E255G|NM_001281507,p.E255G|uc002yat.3,p.E293G	retained_intron, protein_coding	uc010zzw.2	nonsynonymous SNV	exon6	c.A764G	p.E255G	VHRPLPPSRVIEELHRALATKHRQD	VHRPLPPSRVIEGLHRALATKHRQD	8.0	10.0	-	-	4252_20:58348469-58348469 A>G_VHRPLPPSRVIEGLHRALATKHRQD
8:94746627-94746627 G>A	1.0	4252	COLORECTAL	-	-	-	-	RBM12B	uc022aye.1,p.P671L|uc003yfz.3,p.P671L|ENST00000399300,p.P671L|NM_203390,p.P671L	protein_coding, processed_transcript	uc022aye.1	nonsynonymous SNV	exon1	c.C2012T	p.P671L	LRWLPEEDFRRPPEEDWRRPPEEDF	LRWLPEEDFRRPLEEDWRRPPEEDF	6.0	7.0	-	-	4252_8:94746627-94746627 G>A_LRWLPEEDFRRPLEEDWRRPPEEDF
16:4431318-4431318 T>A	0.0	4252	COLORECTAL	-	-	-	-	VASN	uc002cwj.1,p.L147H|uc021tch.1,p.L147H|NM_138440,p.L147H|ENST00000304735,p.L147H	protein_coding	uc021tch.1	nonsynonymous SNV	exon1	c.T440A	p.L147H	RIRHIQPGAFDTLDRLLELKLQDNE	RIRHIQPGAFDTHDRLLELKLQDNE	7.0	4.0	unscreened	-	4252_16:4431318-4431318 T>A_RIRHIQPGAFDTHDRLLELKLQDNE
11:70118398-70118398 G>A	0.0	4252	COLORECTAL	-	-	-	-	PPFIA1	ENST00000389547,p.M40I|ENST00000253925,p.M40I|ENST00000532024,p.M40I|NM_003626,p.M40I|ENST00000530746,p.M40I|uc001opo.3,p.M40I|uc001opn.2,p.M40I|NM_177423,p.M40I|ENST00000532504,p.M40I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001opo.3	nonsynonymous SNV	exon2	c.G120A	p.M40I	SQPDADSHFEQLMVSMLEERDRLLD	SQPDADSHFEQLIVSMLEERDRLLD	8.0	2.0	unscreened	-	4252_11:70118398-70118398 G>A_SQPDADSHFEQLIVSMLEERDRLLD
3:186917391-186917391 C>T	0.0	4252	COLORECTAL	-	-	-	-	RTP1	uc003frg.3,p.L109F|ENST00000312295,p.L109F|NM_153708,p.L109F	protein_coding	uc003frg.3	nonsynonymous SNV	exon2	c.C325T	p.L109F	CWHTWQSPYVVILFHMFLDRAQRAG	CWHTWQSPYVVIFFHMFLDRAQRAG	2.0	8.0	unscreened	-	4252_3:186917391-186917391 C>T_CWHTWQSPYVVIFFHMFLDRAQRAG
5:108714527-108714527 A>G	1.0	4252	COLORECTAL	-	-	-	-	PJA2	ENST00000361557,p.S221P|NM_014819,p.S221P|uc003kos.4,p.S221P|ENST00000361189,p.S221P	protein_coding, processed_transcript	uc003kos.4	nonsynonymous SNV	exon4	c.T661C	p.S221P	AEAYTGLSPPVPSFNCEVRDEFEEL	AEAYTGLSPPVPPFNCEVRDEFEEL	8.0	10.0	-	-	4252_5:108714527-108714527 A>G_AEAYTGLSPPVPPFNCEVRDEFEEL
8:61754471-61754471 A>C	0.0	4252	COLORECTAL	-	-	-	-	CHD7	ENST00000423902,p.E1570D|NM_017780,p.E1570D|uc003xue.3,p.E1570D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xue.3	nonsynonymous SNV	exon21	c.A4710C	p.E1570D	VRKQTRLYSAVKEDELMEFSDLESD	VRKQTRLYSAVKDDELMEFSDLESD	9.0	5.0	unscreened	-	4252_8:61754471-61754471 A>C_VRKQTRLYSAVKDDELMEFSDLESD
1:247921320-247921320 A>G	0.0	4252	COLORECTAL	-	-	-	-	OR1C1	uc010pza.2,p.L130S|NM_012353,p.L130S|ENST00000408896,p.L130S	protein_coding	uc010pza.2	nonsynonymous SNV	exon1	c.T389C	p.L130S	MAYDRYVAICHPLHYTARMNLCLCV	MAYDRYVAICHPSHYTARMNLCLCV	1.0	1.0	unscreened	-	4252_1:247921320-247921320 A>G_MAYDRYVAICHPSHYTARMNLCLCV
11:62744717-62744717 C>A	0.0	4252	COLORECTAL	-	-	-	-	SLC22A6	uc001nwl.3,p.V458F|NM_153278,p.V458F|ENST00000421062,p.V458F|ENST00000458333,p.V458F|uc001nwm.3,p.V458F|NM_153277,p.V458F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001nwm.3	nonsynonymous SNV	exon9	c.G1372T	p.V458F	GELYPTMIRAVTVLLPETLGQPLPD	GELYPTMIRAVTFLLPETLGQPLPD	1.0	8.0	unscreened	-	4252_11:62744717-62744717 C>A_GELYPTMIRAVTFLLPETLGQPLPD
2:176973769-176973769 A>T	1.0	4252	COLORECTAL	-	-	-	1	HOXD11	ENST00000249504,p.T306S|uc002uki.3,p.T306S|NM_021192,p.T306S	protein_coding, processed_transcript	uc002uki.3	nonsynonymous SNV	exon2	c.A916T	p.T306S	EKRLQLSRMLNLTDRQVKIWFQNRR	EKRLQLSRMLNLSDRQVKIWFQNRR	6.0	8.0	-	-	4252_2:176973769-176973769 A>T_EKRLQLSRMLNLSDRQVKIWFQNRR
6:52993392-52993392 A>C	1.0	4252	COLORECTAL	-	-	-	-	GCM1	ENST00000259803,p.L308R|NM_003643,p.L308R|uc003pbp.3,p.L308R	protein_coding	uc003pbp.3	nonsynonymous SNV	exon6	c.T923G	p.L308R	AWSKNAALGRNHLADNCYSNYPFPL	AWSKNAALGRNHRADNCYSNYPFPL	4.0	3.0	-	-	4252_6:52993392-52993392 A>C_AWSKNAALGRNHRADNCYSNYPFPL
6:33048567-33048567 G>C	0.0	4252	COLORECTAL	-	-	-	-	HLA-DPB1	ENST00000428835,p.E50D|NM_002121,p.E73D|ENST00000535465,p.E73D|uc003ocu.2,p.E73D|ENST00000418931,p.E73D	retained_intron, protein_coding, processed_transcript	uc003ocu.2	nonsynonymous SNV	exon2	c.G219C	p.E73D	REEFARFDSDVGEFRAVTELGRPAA	REEFARFDSDVGDFRAVTELGRPAA	10.0	10.0	unscreened	-	4252_6:33048567-33048567 G>C_REEFARFDSDVGDFRAVTELGRPAA
9:125551404-125551404 T>G	0.0	4252	COLORECTAL	-	-	-	-	OR5C1	uc011lzd.2,p.F65V|ENST00000373680,p.F65V|NM_001001923,p.F65V	protein_coding	uc011lzd.2	nonsynonymous SNV	exon1	c.T193G	p.F65V	IRMDARLHTPMYFFLANLSLLDACY	IRMDARLHTPMYVFLANLSLLDACY	1.0	3.0	unscreened	-	4252_9:125551404-125551404 T>G_IRMDARLHTPMYVFLANLSLLDACY
20:20349762-20349762 A>T	0.0	4252	COLORECTAL	-	-	-	-	INSM1	ENST00000310227,p.Q284L|NM_002196,p.Q284L|uc002wrx.3,p.Q284L	protein_coding	uc002wrx.3	nonsynonymous SNV	exon1	c.A851T	p.Q284L	CKEEYADPFALAQHKCSRIVRVEYR	CKEEYADPFALALHKCSRIVRVEYR	3.0	7.0	CD8	-	4252_20:20349762-20349762 A>T_CKEEYADPFALALHKCSRIVRVEYR
12:122709069-122709069 G>A	1.0	4252	COLORECTAL	-	-	-	-	DIABLO	uc010tab.2,p.P58L|ENST00000443649,p.P58L|NM_019887,p.P58L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tab.2	nonsynonymous SNV	exon3	c.C173T	p.P58L	VTIGFGVTLCAVPIAQKSEPHSLSS	VTIGFGVTLCAVLIAQKSEPHSLSS	10.0	8.0	-	-	4252_12:122709069-122709069 G>A_VTIGFGVTLCAVLIAQKSEPHSLSS
10:60558893-60558893 C>-	0.0	4252	COLORECTAL	-	-	-	-	BICC1	uc001jki.1,p.P536fs|ENST00000373886,p.P536fs|uc001jkj.1,p.P177fs|ENST00000263103,p.P162fs|NM_001080512,p.P536fs	protein_coding, processed_transcript	uc001jkj.1	frameshift deletion	exon4	c.529delC	p.P177fs	QATLTNILLSGVPTYGHTAPSPPPG	QATLTNILLSGVPPMGTQLHLPLLA	6.0	9.0	-	-	4252_10:60558893-60558893 C>-_QATLTNILLSGVPPMGTQLHLPLLA
3:183900656-183900656 G>C	1.0	4252	COLORECTAL	-	-	-	-	AP2M1	ENST00000442686,p.E81D|uc011bqz.2,p.E207D	retained_intron, protein_coding, processed_transcript	uc011bqz.2	nonsynonymous SNV	exon6	c.G621C	p.E207D	KKWARPPISMNFEVWQRRGLESCQG	KKWARPPISMNFDVWQRRGLESCQG	10.0	5.0	-	-	4252_3:183900656-183900656 G>C_KKWARPPISMNFDVWQRRGLESCQG
9:95482985-95482985 T>C	0.0	4252	COLORECTAL	-	-	-	-	BICD2	NM_001003800,p.E220G|ENST00000375512,p.E220G|NM_015250,p.E220G|uc004aso.1,p.E220G|ENST00000356884,p.E220G|uc004asp.1,p.E220G	protein_coding	uc004asp.1	nonsynonymous SNV	exon4	c.A659G	p.E220G	LKHEIKRLEEETEYLNSQLEDAIRL	LKHEIKRLEEETGYLNSQLEDAIRL	7.0	4.0	unscreened	-	4252_9:95482985-95482985 T>C_LKHEIKRLEEETGYLNSQLEDAIRL
6:133005539-133005539 C>T	1.0	4252	COLORECTAL	-	-	-	-	VNN1	NM_004666,p.G432R|ENST00000367928,p.G432R|uc003qdo.3,p.G432R	protein_coding	uc003qdo.3	nonsynonymous SNV	exon6	c.G1294A	p.G432R	TRFEMFSLSGTFGTQYVFPEVLLSE	TRFEMFSLSGTFRTQYVFPEVLLSE	4.0	7.0	-	-	4252_6:133005539-133005539 C>T_TRFEMFSLSGTFRTQYVFPEVLLSE
13:70535478-70535478 G>T	0.0	4252	COLORECTAL	-	-	ID=COSM1607185;OCCURENCE=2(liver)	-	KLHL1	NM_020866,p.P260H|ENST00000545028,p.P67H|NM_001286725,p.P199H|uc010thm.2,p.P199H|uc001vip.3,p.P260H|ENST00000377844,p.P260H	protein_coding	uc010thm.2	nonsynonymous SNV	exon2	c.C596A	p.P199H	AKQEEIKMEGIDPNALWDLVQFAYT	AKQEEIKMEGIDHNALWDLVQFAYT	1.0	1.0	unscreened	-	4252_13:70535478-70535478 G>T_AKQEEIKMEGIDHNALWDLVQFAYT
12:91502710-91502710 G>T	0.0	4252	COLORECTAL	-	-	-	-	LUM	NM_002345,p.T16N|ENST00000266718,p.T16N|uc001tbm.3,p.T16N	protein_coding, processed_transcript	uc001tbm.3	nonsynonymous SNV	exon2	c.C47A	p.T16N	SAFTLFLALIGGTSGQYYDYDFPLS	SAFTLFLALIGGNSGQYYDYDFPLS	10.0	9.0	-	-	4252_12:91502710-91502710 G>T_SAFTLFLALIGGNSGQYYDYDFPLS
8:66631592-66631624 CTGCTCGACTGTTCTCTCTGCAGTCCCTTCCAG>-	0.0	4252	COLORECTAL	-	-	-	-	PDE7A	uc003xvp.3,p.424_435del|NM_001242318,p.450_461del|uc003xvq.3,p.450_461del|NM_002603,p.424_435del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xvq.3	nonframeshift deletion	exon13	c.1350_1382del	p.450_461del	QTMLGHVGLNKASWKGLQREQSSSE	QTMLGHVGLNKASEDTDAAFELNSQ	8.0	6.0	-	-	4252_8:66631592-66631624 CTGCTCGACTGTTCTCTCTGCAGTCCCTTCCAG>-_QTMLGHVGLNKASEDTDAAFELNSQ
4:57356563-57356563 G>C	1.0	4252	COLORECTAL	-	-	-	-	SRP72	ENST00000342756,p.R462P|uc003hbv.3,p.R462P|uc010ihe.3,p.R401P|ENST00000510663,p.R401P|NM_006947,p.R462P|NM_001267722,p.R401P	retained_intron, protein_coding	uc010ihe.3	nonsynonymous SNV	exon12	c.G1202C	p.R401P	IREAANFKLKYGRKKEAISDLQQLW	IREAANFKLKYGPKKEAISDLQQLW	9.0	10.0	-	-	4252_4:57356563-57356563 G>C_IREAANFKLKYGPKKEAISDLQQLW
5:147693727-147693727 C>T	0.0	4252	COLORECTAL	-	-	-	-	SPINK7	ENST00000523535,p.P25L|uc003lpd.3,p.P51L|ENST00000274565,p.P51L|NM_032566,p.P51L	retained_intron, protein_coding, processed_transcript	uc003lpd.3	nonsynonymous SNV	exon3	c.C152T	p.P51L	PVVAIPCPITYLPVCGSDYITYGNE	PVVAIPCPITYLLVCGSDYITYGNE	1.0	4.0	unscreened	-	4252_5:147693727-147693727 C>T_PVVAIPCPITYLLVCGSDYITYGNE
12:56981348-56981348 T>G	1.0	4252	COLORECTAL	-	-	-	-	RBMS2	ENST00000542360,p.L176R|ENST00000550726,p.L196R|uc009zou.2,p.L78R|uc010sqp.1,p.L176R|ENST00000262031,p.L321R|uc001sln.2,p.L321R|uc010sqq.1,p.L196R|NM_002898,p.L321R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010sqq.1	nonsynonymous SNV	exon10	c.T587G	p.L196R	HHSYLMQPSGSVLTPGMDHPISLQP	HHSYLMQPSGSVRTPGMDHPISLQP	7.0	3.0	-	-	4252_12:56981348-56981348 T>G_HHSYLMQPSGSVRTPGMDHPISLQP
3:130188172-130188172 G>T	0.0	4252	COLORECTAL	-	-	ID=COSM1536455,COSM1536456;OCCURENCE=1(lung)	-	COL6A5	uc021xdz.1,p.V481L|uc010htj.2,p.V2442L|NM_001278298,p.V2442L|ENST00000512482,p.V277L|ENST00000265379,p.V2442L|ENST00000312481,p.V2442L|NM_153264,p.V2442L|ENST00000373157,p.V385L|uc010htk.2,p.V2442L|ENST00000432398,p.V2442L	protein_coding, nonsense_mediated_decay	uc021xdz.1	nonsynonymous SNV	exon4	c.G1441T	p.V481L	SLRAKCQGYSIFVFSFGPKHNDKEL	SLRAKCQGYSIFLFSFGPKHNDKEL	4.0	1.0	unscreened	-	4252_3:130188172-130188172 G>T_SLRAKCQGYSIFLFSFGPKHNDKEL
1:3638681-3638681 C>G	0.0	4252	COLORECTAL	-	-	-	-	TP73	uc021ofd.1,p.R176G|NM_001204188,p.R176G|ENST00000346387,p.R176G|uc021ofe.1,p.R176G|NM_005427,p.R176G|ENST00000604074,p.R176G|NM_001204184,p.R176G|uc010nzk.2,p.R105G|ENST00000378290,p.R105G|ENST00000354437,p.R176G|ENST00000378288,p.R127G|uc021ofg.1,p.R127G|ENST00000378280,p.R127G|NM_001204190,p.R127G|uc001akp.3,p.R176G|uc010nzj.2,p.R127G|uc021ofb.1,p.R176G|uc021ofc.1,p.R176G|NM_001126240,p.R127G|ENST00000604479,p.R176G|ENST00000378295,p.R176G|NM_001204192,p.R105G|uc021ofi.1,p.R127G|ENST00000378285,p.R127G|uc021ofh.1,p.R127G|NM_001126242,p.R127G|uc009vlk.2,p.R127G|ENST00000357733,p.R176G|uc001akr.3,p.R127G|NM_001204189,p.R127G|ENST00000603362,p.R176G|NM_001204187,p.R176G|NM_001204185,p.R176G|uc021off.1,p.R176G|NM_001204191,p.R127G|uc001aks.3,p.R127G|NM_001126241,p.R127G|NM_001204186,p.R176G	protein_coding	uc021ofi.1	nonsynonymous SNV	exon3	c.C379G	p.R127G	KVSTPPPPGTAIRAMPVYKKAEHVT	KVSTPPPPGTAIGAMPVYKKAEHVT	6.0	5.0	unscreened	-	4252_1:3638681-3638681 C>G_KVSTPPPPGTAIGAMPVYKKAEHVT
12:10462056-10462056 C>T	0.0	4252	COLORECTAL	0.0005	-	ID=COSM3687909;OCCURENCE=1(large_intestine)	-	KLRD1	uc009zhh.3,p.T26M|ENST00000543777,p.T26M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zhh.3	nonsynonymous SNV	exon2	c.C77T	p.T26M	GTLGIICLSLMSTLGILLKNYSDCC	GTLGIICLSLMSMLGILLKNYSDCC	6.0	7.0	unscreened	-	4252_12:10462056-10462056 C>T_GTLGIICLSLMSMLGILLKNYSDCC
12:22487096-22487096 G>-	0.0	4252	COLORECTAL	-	-	-	-	ST8SIA1	uc001rfo.4,p.P24fs|ENST00000396037,p.P24fs|ENST00000261197,p.P24fs|NM_003034,p.P24fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc001rfo.4	frameshift deletion	exon1	c.71delC	p.P24fs	SRGAMAVLAWKFPRTRLPMGASALC	SRGAMAVLAWKFRGPGCPWEPVPSVSWSSVGSTSSPSTGCPTRKRSCRGCCNRARRGGGTRPRPERSGNKWKTAATLPISLL	5.0	8.0	-	-	4252_12:22487096-22487096 G>-_SRGAMAVLAWKFRGPGCPWEPVPSVSWSSVGSTSSPSTGCPTRKRSCRGCCNRARRGGGTRPRPERSGNKWKTAATLPISLL
Y:14888646-14888646 C>G	0.0	4252	COLORECTAL	-	-	-	-	USP9Y	uc004fst.1,p.L831V|ENST00000338981,p.L831V|NM_004654,p.L831V	protein_coding, processed_transcript	uc004fst.1	nonsynonymous SNV	exon19	c.C2491G	p.L831V	SCFDRLKASYDTLCVFDGDKNSINC	SCFDRLKASYDTVCVFDGDKNSINC	7.0	7.0	unscreened	-	4252_Y:14888646-14888646 C>G_SCFDRLKASYDTVCVFDGDKNSINC
5:1216756-1216756 T>A	0.0	4252	COLORECTAL	-	-	-	-	SLC6A19	NM_001003841,p.V324D|uc003jbw.4,p.V324D|ENST00000304460,p.V324D	protein_coding, nonsense_mediated_decay	uc003jbw.4	nonsynonymous SNV	exon7	c.T971A	p.V324D	FTSVYVAIVVYSVIGFRATQRYDDC	FTSVYVAIVVYSDIGFRATQRYDDC	3.0	5.0	unscreened	-	4252_5:1216756-1216756 T>A_FTSVYVAIVVYSDIGFRATQRYDDC
6:17764840-17764840 A>G	0.0	4252	COLORECTAL	0.0	-	-	-	KIF13A	ENST00000378843,p.L1592P|uc003ncg.4,p.L1640P|ENST00000378814,p.L1592P|uc003nce.2,p.L191P|uc003ncf.3,p.L1592P|ENST00000378826,p.L1605P|NM_001105568,p.L1592P|ENST00000378816,p.L1605P|ENST00000259711,p.L1640P|NM_022113,p.L1640P|NM_001105567,p.L1592P|uc003nci.4,p.L1592P|NM_001105566,p.L1605P|ENST00000502297,p.L644P|uc003nch.4,p.L1605P	retained_intron, protein_coding, processed_transcript	uc003nci.4	nonsynonymous SNV	exon37	c.T4775C	p.L1592P	KDADSTEHSTPSLVHDFRPSSNKEL	KDADSTEHSTPSPVHDFRPSSNKEL	6.0	2.0	unscreened	-	4252_6:17764840-17764840 A>G_KDADSTEHSTPSPVHDFRPSSNKEL
16:53495735-53495735 G>C	0.0	4252	COLORECTAL	-	-	-	-	RBL2	ENST00000544405,p.D403H|ENST00000262133,p.D477H|uc002ehi.4,p.D477H|uc010vgw.2,p.D261H|ENST00000544545,p.D261H|uc010vgv.1,p.D403H|NM_005611,p.D477H|uc002ehj.3,p.D187H	retained_intron, protein_coding, processed_transcript	uc010vgw.2	nonsynonymous SNV	exon7	c.G781C	p.D261H	EMFEIYSQHFQPDEDFSNCAKEIAS	EMFEIYSQHFQPHEDFSNCAKEIAS	8.0	1.0	unscreened	-	4252_16:53495735-53495735 G>C_EMFEIYSQHFQPHEDFSNCAKEIAS
2:166164399-166164399 G>C	0.0	4252	COLORECTAL	-	-	-	-	SCN2A	uc002ude.3,p.C143S|ENST00000375427,p.C143S|ENST00000283256,p.C143S|uc002udc.3,p.C143S|ENST00000357398,p.C143S|uc002udd.3,p.C143S|NM_021007,p.C143S|NM_001040143,p.C143S|ENST00000375437,p.C143S|NM_001040142,p.C143S|ENST00000424833,p.C143S	retained_intron, protein_coding	uc002ude.3	nonsynonymous SNV	exon3	c.G428C	p.C143S	FNMLIMCTILTNCVFMTMSNPPDWT	FNMLIMCTILTNSVFMTMSNPPDWT	5.0	6.0	unscreened	-	4252_2:166164399-166164399 G>C_FNMLIMCTILTNSVFMTMSNPPDWT
20:46267940-46267940 A>G	0.0	4252	COLORECTAL	-	-	-	-	NCOA3	uc010ght.2,p.S911G|NM_001174088,p.S911G|ENST00000371997,p.S911G	protein_coding, processed_transcript	uc010ght.2	nonsynonymous SNV	exon14	c.A2731G	p.S911G	PRMMDSQENYGSSMGDWGLPNSKAG	PRMMDSQENYGSGMGDWGLPNSKAG	8.0	1.0	unscreened	-	4252_20:46267940-46267940 A>G_PRMMDSQENYGSGMGDWGLPNSKAG
2:141946123-141946123 T>G	0.0	4252	COLORECTAL	-	-	-	1	LRP1B	uc002tvj.1,p.T294P|NM_018557,p.T294P|ENST00000389484,p.T294P	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon7	c.A880C	p.T294P	FHNVQQMAIDWLTRNLYFVDHVGDR	FHNVQQMAIDWLPRNLYFVDHVGDR	1.0	4.0	unscreened	-	4252_2:141946123-141946123 T>G_FHNVQQMAIDWLPRNLYFVDHVGDR
11:6806528-6806543 GCAGAGAAAACACCAT>-	0.0	4252	COLORECTAL	-	-	-	-	OR2AG1	NM_001004489,p.R87fs|ENST00000307401,p.R87fs|uc001mer.2,p.R87fs	protein_coding	uc001mer.2	frameshift deletion	exon1	c.260_275del	p.R87fs	SVVTPKALADFLRRENTISFGGCAL	SVVTPKALADFLPPLEAVPFRCSWH	1.0	1.0	unscreened	-	4252_11:6806528-6806543 GCAGAGAAAACACCAT>-_SVVTPKALADFLPPLEAVPFRCSWH
20:23370645-23370645 T>G	0.0	4252	COLORECTAL	-	-	-	-	NAPB	NM_001283018,p.K171Q|NM_001283026,p.K73Q|uc010zss.1,p.K54Q|ENST00000398425,p.K73Q|NM_001283020,p.K128Q|ENST00000377026,p.K167Q|NM_022080,p.K167Q|uc002wtc.3,p.K73Q|ENST00000432543,p.K128Q|uc002wtb.3,p.K171Q|uc010zst.1,p.K128Q|uc002wta.3,p.K167Q	protein_coding, processed_transcript	uc010zst.1	nonsynonymous SNV	exon6	c.A382C	p.K128Q	EESNSSANKCLLKVAAYAAQLEQYQ	EESNSSANKCLLQVAAYAAQLEQYQ	7.0	2.0	unscreened	-	4252_20:23370645-23370645 T>G_EESNSSANKCLLQVAAYAAQLEQYQ
3:97851737-97851737 T>G	0.0	4252	COLORECTAL	-	-	-	-	OR5H1	ENST00000354565,p.L66V|NM_001005338,p.L66V|uc011bgt.2,p.L66V	protein_coding	uc011bgt.2	nonsynonymous SNV	exon1	c.T196G	p.L66V	HLHIPMYLLLGNLAFVDAWISSTVT	HLHIPMYLLLGNVAFVDAWISSTVT	1.0	3.0	unscreened	-	4252_3:97851737-97851737 T>G_HLHIPMYLLLGNVAFVDAWISSTVT
10:131665524-131665524 G>T	0.0	4252	COLORECTAL	-	-	-	-	EBF3	uc021qav.2,p.T298N|ENST00000355311,p.T307N|uc001lki.2,p.T298N|ENST00000368648,p.T298N|NM_001005463,p.T298N	protein_coding, processed_transcript	uc021qav.2	nonsynonymous SNV	exon10	c.C893A	p.T298N	VFGTMLVWSELITPHAIRVQTPPRH	VFGTMLVWSELINPHAIRVQTPPRH	2.0	10.0	unscreened	-	4252_10:131665524-131665524 G>T_VFGTMLVWSELINPHAIRVQTPPRH
19:11121065-11121065 A>G	1.0	4252	COLORECTAL	-	-	-	1	SMARCA4	NM_001128848,p.K711R|NM_001128844,p.K711R|NM_001128846,p.K711R|NM_003072,p.K711R|uc010dxs.3,p.K711R|uc002mqj.4,p.K711R|uc002mqf.4,p.K711R|ENST00000590574,p.K711R|ENST00000450717,p.K711R|ENST00000344626,p.K711R|ENST00000413806,p.K711R|uc010dxr.3,p.K711R|ENST00000444061,p.K711R|uc010dxq.3,p.K711R|ENST00000541122,p.K711R|ENST00000589677,p.K711R|uc010dxo.3,p.K711R|ENST00000429416,p.K711R|NM_001128845,p.K711R|uc002mqg.1,p.K711R|uc010dxp.3,p.K711R|NM_001128849,p.K711R|ENST00000358026,p.K711R|NM_001128847,p.K711R	retained_intron, protein_coding, processed_transcript	uc010dxs.3	nonsynonymous SNV	exon14	c.A2132G	p.K711R	SEVDARHIIENAKQDVDDEYGVSQA	SEVDARHIIENARQDVDDEYGVSQA	10.0	3.0	-	-	4252_19:11121065-11121065 A>G_SEVDARHIIENARQDVDDEYGVSQA
12:22487096-22487096 G>-	0.0	4252	COLORECTAL	-	-	-	-	ST8SIA1	ENST00000381424,p.P24fs	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000381424	frameshift deletion	exon1	c.71delC	p.P24fs	SRGAMAVLAWKFPRTRLPMGASALC	SRGAMAVLAWKFRGPGCPWEPVPSVSWSSVGSTSSPSTGCPTRKRSCRGCCNRARRGGGTRPRPERSAVALH	5.0	8.0	-	-	4252_12:22487096-22487096 G>-_SRGAMAVLAWKFRGPGCPWEPVPSVSWSSVGSTSSPSTGCPTRKRSCRGCCNRARRGGGTRPRPERSAVALH
17:79210594-79210594 T>G	1.0	4252	COLORECTAL	-	-	-	-	ENTHD2	ENST00000300714,p.K74T|uc002jzu.2,p.K74T|ENST00000571094,p.K67T|NM_144679,p.K74T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jzu.2	nonsynonymous SNV	exon4	c.A221C	p.K74T	HSSSGHGKLKVLKILLYLCSHGSSF	HSSSGHGKLKVLTILLYLCSHGSSF	8.0	5.0	-	-	4252_17:79210594-79210594 T>G_HSSSGHGKLKVLTILLYLCSHGSSF
7:23015864-23015864 A>T	0.0	4252	COLORECTAL	-	-	-	-	FAM126A	NM_032581,p.S197R|uc003svn.4,p.S53R|ENST00000432176,p.S197R|ENST00000409923,p.S197R|uc003svm.4,p.S197R	retained_intron, protein_coding, processed_transcript	uc003svn.4	nonsynonymous SNV	exon6	c.T159A	p.S53R	LLCYNAALTYMPSVSLQSLCQICSR	LLCYNAALTYMPRVSLQSLCQICSR	5.0	3.0	unscreened	-	4252_7:23015864-23015864 A>T_LLCYNAALTYMPRVSLQSLCQICSR
9:90258346-90258346 G>T	0.0	4252	COLORECTAL	-	-	-	-	DAPK1	ENST00000408954,p.R325I|NM_004938,p.R325I|NM_001288730,p.R325I|uc011ltg.2,p.R325I|uc004apc.3,p.R325I|NM_001288731,p.R325I|ENST00000469640,p.R325I|ENST00000358077,p.R325I|NM_001288729,p.R325I|ENST00000472284,p.R325I|ENST00000491893,p.R325I|uc004ape.3,p.R325I|uc004apd.3,p.R325I|uc011lth.2,p.R62I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lth.2	nonsynonymous SNV	exon9	c.G185T	p.R62I	SLCQRLSRSFLSRSNMSVARSDDTL	SLCQRLSRSFLSISNMSVARSDDTL	6.0	3.0	unscreened	-	4252_9:90258346-90258346 G>T_SLCQRLSRSFLSISNMSVARSDDTL
20:44639917-44639925 ACGACACCG>-	0.0	4252	COLORECTAL	-	-	-	-	MMP9	ENST00000372330,p.262_265del|NM_004994,p.262_265del|uc002xqz.3,p.262_265del	protein_coding	uc002xqz.3	nonframeshift deletion	exon5	c.785_793del	p.262_265del	SDGLPWCSTTANYDTDDRFGFCPSE	SDGLPWCSTTANYDRFGFCPSERLY	9.0	6.0	-	-	4252_20:44639917-44639925 ACGACACCG>-_SDGLPWCSTTANYDRFGFCPSERLY
1:178489956-178489956 ->A	0.0	4252	COLORECTAL	-	-	-	-	TEX35	ENST00000258298,p.Q88fs	protein_coding, nonsense_mediated_decay	ENST00000258298	frameshift insertion	exon7	c.263dupA	p.Q88fs	APCALHKKTMAPQKTKQGSLDPLHH	APCALHKKTMAPQKNKTGLTGSPSSLWDLLREMFVVCSKEQLQSGCSPKGSSSPPDSQFY	3.0	8.0	unscreened	-	4252_1:178489956-178489956 ->A_APCALHKKTMAPQKNKTGLTGSPSSLWDLLREMFVVCSKEQLQSGCSPKGSSSPPDSQFY
12:48596982-48596982 A>T	0.0	4252	COLORECTAL	-	-	-	-	OR10AD1	NM_001004134,p.L32M|uc001rrl.1,p.L32M|ENST00000310248,p.L32M	protein_coding	uc001rrl.1	nonsynonymous SNV	exon1	c.T94A	p.L32M	STSTRALLFALFLALYSLTMAMNGL	STSTRALLFALFMALYSLTMAMNGL	1.0	7.0	unscreened	-	4252_12:48596982-48596982 A>T_STSTRALLFALFMALYSLTMAMNGL
11:70118399-70118399 G>T	0.0	4252	COLORECTAL	-	-	-	-	PPFIA1	uc001opn.2,p.V41F|ENST00000532024,p.V41F|NM_003626,p.V41F|ENST00000530746,p.V41F|ENST00000253925,p.V41F|ENST00000389547,p.V41F|ENST00000532504,p.V41F|uc001opo.3,p.V41F|NM_177423,p.V41F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001opo.3	nonsynonymous SNV	exon2	c.G121T	p.V41F	QPDADSHFEQLMVSMLEERDRLLDT	QPDADSHFEQLMFSMLEERDRLLDT	8.0	2.0	unscreened	-	4252_11:70118399-70118399 G>T_QPDADSHFEQLMFSMLEERDRLLDT
1:178489956-178489956 ->A	0.0	4252	COLORECTAL	-	-	-	-	TEX35	NM_001170724,p.Q164fs|ENST00000367639,p.Q172fs|uc021pfe.1,p.Q164fs|uc001glw.2,p.Q172fs|NM_001170722,p.Q172fs	protein_coding, nonsense_mediated_decay	uc021pfe.1	frameshift insertion	exon7	c.491dupA	p.Q164fs	APCALHKKTMAPQKTKQGSLDPLHH	APCALHKKTMAPQKNKTGLTGSPSSLWDLLREMFVVCSKEQLQSGYIRCSGTAGSMV	3.0	8.0	unscreened	-	4252_1:178489956-178489956 ->A_APCALHKKTMAPQKNKTGLTGSPSSLWDLLREMFVVCSKEQLQSGYIRCSGTAGSMV
15:68695350-68695350 T>G	0.0	4252	COLORECTAL	-	-	-	-	ITGA11	uc010bib.3,p.N24T|ENST00000315757,p.N24T|ENST00000423218,p.N24T|NM_001004439,p.N24T|uc002ari.3,p.N24T	retained_intron, protein_coding, processed_transcript	uc010bib.3	nonsynonymous SNV	exon2	c.A71C	p.N24T	ALSLWPGFTDTFNMDTRKPRVIPGS	ALSLWPGFTDTFTMDTRKPRVIPGS	4.0	5.0	unscreened	-	4252_15:68695350-68695350 T>G_ALSLWPGFTDTFTMDTRKPRVIPGS
1:178489956-178489956 ->A	0.0	4252	COLORECTAL	-	-	-	-	TEX35	ENST00000319416,p.Q164fs|uc001glt.2,p.Q164fs|NM_032126,p.Q164fs	protein_coding, nonsense_mediated_decay	uc001glt.2	frameshift insertion	exon7	c.491dupA	p.Q164fs	APCALHKKTMAPQKTKQGSLDPLHH	APCALHKKTMAPQKNKTGLTGSPSSLWDLLREMFVVCSKEQLQSGEHSFRGLRPLQRWRGASDHPTFCGPRCACPKVPD	3.0	8.0	unscreened	-	4252_1:178489956-178489956 ->A_APCALHKKTMAPQKNKTGLTGSPSSLWDLLREMFVVCSKEQLQSGEHSFRGLRPLQRWRGASDHPTFCGPRCACPKVPD
20:55758957-55758957 T>G	1.0	4252	COLORECTAL	-	-	-	-	BMP7	uc010gip.1,p.K260T|NM_001719,p.K260T|uc002xyc.3,p.K260T|ENST00000395863,p.K260T|ENST00000450594,p.K260T	retained_intron, protein_coding, processed_transcript	uc010gip.1	nonsynonymous SNV	exon4	c.A779C	p.K260T	SVETLDGQSINPKLAGLIGRHGPQN	SVETLDGQSINPTLAGLIGRHGPQN	7.0	6.0	-	-	4252_20:55758957-55758957 T>G_SVETLDGQSINPTLAGLIGRHGPQN
15:42976592-42976592 A>C	0.0	4252	COLORECTAL	-	-	-	-	STARD9	ENST00000290607,p.K939T|NM_020759,p.K939T|uc010udj.2,p.K939T	retained_intron, protein_coding, nonsense_mediated_decay	uc010udj.2	nonsynonymous SNV	exon23	c.A2816C	p.K939T	NSVGIQEMEMGVKQPHQMVSQGLAS	NSVGIQEMEMGVTQPHQMVSQGLAS	5.0	4.0	unscreened	-	4252_15:42976592-42976592 A>C_NSVGIQEMEMGVTQPHQMVSQGLAS
1:178489956-178489956 ->A	0.0	4252	COLORECTAL	-	-	-	-	TEX35	NM_001170723,p.Q164fs|uc021pfd.1,p.Q164fs|ENST00000367643,p.Q164fs	protein_coding, nonsense_mediated_decay	uc021pfd.1	frameshift insertion	exon7	c.491dupA	p.Q164fs	APCALHKKTMAPQKTKQGSLDPLHH	APCALHKKTMAPQKNKTGLTGSPSSLWDLLREMFVVCSKEQLQSGAAAEPTSSSDSSPPSSL	3.0	8.0	unscreened	-	4252_1:178489956-178489956 ->A_APCALHKKTMAPQKNKTGLTGSPSSLWDLLREMFVVCSKEQLQSGAAAEPTSSSDSSPPSSL
14:19553442-19553442 C>T	0.0	4252	COLORECTAL	-	-	-	-	POTEG	ENST00000547889,p.P9L|uc001vuz.1,p.P9L|NM_001005356,p.P9L|ENST00000409832,p.P9L|ENST00000552966,p.P9L	protein_coding, nonsense_mediated_decay	uc001vuz.1	nonsynonymous SNV	exon1	c.C26T	p.P9L	MVAEAGSMPAASSVKKPFGLR	MVAEAGSMLAASSVKKPFGLR	2.0	6.0	unscreened	-	4252_14:19553442-19553442 C>T_MVAEAGSMLAASSVKKPFGLR
12:133237556-133237556 T>G	0.0	4252	COLORECTAL	-	-	-	1	POLE	NM_006231,p.K1020T|uc001uks.1,p.K1020T|uc009zyu.1,p.K993T|ENST00000320574,p.K1020T|ENST00000539006,p.K800T|ENST00000535270,p.K993T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zyu.1	nonsynonymous SNV	exon24	c.A2978C	p.K993T	KVADYWLDVLYSKAANMPDSELFEL	KVADYWLDVLYSTAANMPDSELFEL	9.0	3.0	unscreened	-	4252_12:133237556-133237556 T>G_KVADYWLDVLYSTAANMPDSELFEL
15:89865023-89865023 C>A	0.0	4252	COLORECTAL	-	-	-	2	POLG	uc002bnr.4,p.G848C|uc002bns.4,p.G848C|NM_002693,p.G848C|NM_001126131,p.G848C|ENST00000442287,p.G848C|ENST00000268124,p.G848C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bns.4	nonsynonymous SNV	exon16	c.G2542T	p.G848C	LYGAILPQVVTAGTITRRAVEPTWL	LYGAILPQVVTACTITRRAVEPTWL	9.0	1.0	unscreened	-	4252_15:89865023-89865023 C>A_LYGAILPQVVTACTITRRAVEPTWL
16:3078210-3078210 G>T	1.0	4252	COLORECTAL	-	-	-	-	CCDC64B	ENST00000572449,p.S475Y|uc002cte.4,p.S268Y|ENST00000389347,p.S475Y|NM_001103175,p.S475Y|ENST00000573514,p.S268Y|uc002ctf.4,p.S475Y	retained_intron, protein_coding	uc002ctf.4	nonsynonymous SNV	exon9	c.C1424A	p.S475Y	QLRSQRQKELSASASSSTPRRAAPR	QLRSQRQKELSAYASSSTPRRAAPR	8.0	1.0	-	-	4252_16:3078210-3078210 G>T_QLRSQRQKELSAYASSSTPRRAAPR
4:156874878-156874896 GCTTCACGCTCGCGGCTCC>-	0.0	4252	COLORECTAL	-	-	-	-	CTSO	NM_001334,p.R35fs|ENST00000433477,p.R35fs|uc003ipg.3,p.R35fs	protein_coding	uc003ipg.3	frameshift deletion	exon1	c.104_122del	p.R35fs	ADSRAPFTPTWPRSREREAAAFRES	ADSRAPFTPTWPPPPSGKVLIDIDT	6.0	10.0	-	-	4252_4:156874878-156874896 GCTTCACGCTCGCGGCTCC>-_ADSRAPFTPTWPPPPSGKVLIDIDT
11:108381298-108381298 G>T	1.0	4252	COLORECTAL	-	-	-	-	EXPH5	ENST00000525344,p.P1639T|ENST00000265843,p.P1646T|uc001pkk.3,p.P1646T|ENST00000526312,p.P1570T|uc010rvz.2,p.P1490T|ENST00000428840,p.P1570T|NM_015065,p.P1646T|uc010rvy.2,p.P1458T|ENST00000443411,p.P1458T	protein_coding, processed_transcript	uc010rvz.2	nonsynonymous SNV	exon4	c.C4468A	p.P1490T	LGTVECNPLFPEPTPKSAESIGESR	LGTVECNPLFPETTPKSAESIGESR	6.0	9.0	-	-	4252_11:108381298-108381298 G>T_LGTVECNPLFPETTPKSAESIGESR
2:202899431-202899431 G>C	0.0	4252	COLORECTAL	-	-	-	-	FZD7	NM_003507,p.A21P|uc002uyw.1,p.A21P|ENST00000286201,p.A21P	protein_coding	uc002uyw.1	nonsynonymous SNV	exon1	c.G61C	p.A21P	PLSSLGLCALVLALLGALSAGAGAQ	PLSSLGLCALVLPLLGALSAGAGAQ	6.0	5.0	unscreened	-	4252_2:202899431-202899431 G>C_PLSSLGLCALVLPLLGALSAGAGAQ
19:42738519-42738519 T>A	0.0	4252	COLORECTAL	-	-	-	-	GSK3A	ENST00000222330,p.Y297F|ENST00000398249,p.Y215F|uc002otb.1,p.Y297F|uc002ota.1,p.Y215F|ENST00000453535,p.Y297F|NM_019884,p.Y297F	retained_intron, protein_coding, nonsense_mediated_decay	uc002otb.1	nonsynonymous SNV	exon6	c.A890T	p.Y297F	YRAPELIFGATDYTSSIDVWSAGCV	YRAPELIFGATDFTSSIDVWSAGCV	8.0	3.0	unscreened	-	4252_19:42738519-42738519 T>A_YRAPELIFGATDFTSSIDVWSAGCV
1:85790415-85790430 TTTTTTACCTTTGCAC>-	0.0	4252	COLORECTAL	-	-	-	-	DDAH1	ENST00000284031,p.S245fs|ENST00000539042,p.S245fs|ENST00000426972,p.S152fs|NM_012137,p.S245fs|uc009wco.3,p.S142fs|uc001dlb.3,p.S245fs|NM_001134445,p.S142fs|uc001dlc.3,p.S142fs|ENST00000535924,p.S142fs|ENST00000542148,p.S145fs|uc010osb.2,p.S145fs	protein_coding, processed_transcript	uc010osb.2	frameshift deletion	exon5	c.434_441del	p.S145fs	VLLHRTPEEYPESAKVYEKLKDHML	VLLHRTPEEYPESL	9.0	6.0	unscreened	-	4252_1:85790415-85790430 TTTTTTACCTTTGCAC>-_VLLHRTPEEYPESL
4:177071010-177071010 C>A	0.0	4252	COLORECTAL	-	-	-	-	WDR17	ENST00000508596,p.D650E|ENST00000507824,p.D657E|NM_170710,p.D674E|uc003ium.4,p.D650E|NM_181265,p.D650E|ENST00000393643,p.D650E|ENST00000280190,p.D674E|uc003iuj.3,p.D674E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ium.4	nonsynonymous SNV	exon14	c.C1950A	p.D650E	PSRPFTMASCSRDSTVRLWSLTALV	PSRPFTMASCSRESTVRLWSLTALV	3.0	10.0	-	-	4252_4:177071010-177071010 C>A_PSRPFTMASCSRESTVRLWSLTALV
2:128399711-128399711 G>T	0.0	4252	COLORECTAL	-	-	-	-	LIMS2	ENST00000409254,p.D39E|uc002tpa.3,p.D191E|ENST00000355119,p.D191E|uc002toz.3,p.D186E|NM_001161403,p.D191E|uc002tox.3,p.D215E|ENST00000409808,p.D186E|ENST00000324938,p.D215E|NM_001136037,p.D213E|ENST00000409754,p.D39E|ENST00000409455,p.D186E|ENST00000410011,p.D186E|ENST00000409286,p.D39E|uc002tpb.3,p.D186E|ENST00000410038,p.D39E|uc002toy.3,p.D186E|uc010fmb.3,p.D101E|ENST00000545738,p.D213E|NM_001256542,p.D39E|NM_001161404,p.D186E|uc010yzm.2,p.D213E|NM_017980,p.D215E|uc002tov.3,p.D39E|uc002tow.4,p.D39E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yzm.2	nonsynonymous SNV	exon7	c.C639A	p.D213E	ELKGELYCLPCHDKMGVPICGACRR	ELKGELYCLPCHEKMGVPICGACRR	7.0	7.0	-	-	4252_2:128399711-128399711 G>T_ELKGELYCLPCHEKMGVPICGACRR
7:81594951-81594968 CACCATCATCCAGAATCA>-	0.0	4252	COLORECTAL	-	-	-	-	CACNA2D1	uc003uhr.1,p.839_845del|ENST00000535308,p.51_57del|ENST00000356253,p.851_857del|uc011kgy.1,p.51_57del|ENST00000356860,p.839_845del|NM_000722,p.839_845del	retained_intron, protein_coding, processed_transcript	uc011kgy.1	nonframeshift deletion	exon4	c.152_169del	p.51_57del	CDCKRNSDVMDCVILDDGGFLLMAN	CDCKRNSDVMDCGFLLMANHDDYTN	2.0	3.0	unscreened	-	4252_7:81594951-81594968 CACCATCATCCAGAATCA>-_CDCKRNSDVMDCGFLLMANHDDYTN
8:15480725-15480725 C>G	0.0	4252	COLORECTAL	-	-	-	-	TUSC3	NM_178234,p.A92G|ENST00000382020,p.A92G|ENST00000509380,p.A92G|NM_006765,p.A92G|ENST00000515859,p.A92G|ENST00000503731,p.A92G|uc003wwt.3,p.A92G|ENST00000510836,p.A92G|ENST00000506802,p.A92G|uc003wwu.3,p.A92G|ENST00000511783,p.A46G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003wwu.3	nonsynonymous SNV	exon2	c.C275G	p.A92G	PPRNYSMIVMFTALQPQRQCSVCRQ	PPRNYSMIVMFTGLQPQRQCSVCRQ	7.0	10.0	-	-	4252_8:15480725-15480725 C>G_PPRNYSMIVMFTGLQPQRQCSVCRQ
12:50724524-50724524 G>C	0.0	4252	COLORECTAL	-	-	-	-	FAM186A	ENST00000543096,p.T300R|ENST00000543111,p.T2289R|uc001rwl.2,p.T2289R|uc010smt.1,p.T2067R|NM_001145475,p.T2289R|ENST00000327337,p.T2289R	protein_coding, nonsense_mediated_decay	uc010smt.1	nonsynonymous SNV	exon4	c.C6200G	p.T2067R	DICKKFRQQEDQTEAIWNVDLSTSS	DICKKFRQQEDQREAIWNVDLSTSS	2.0	1.0	unscreened	-	4252_12:50724524-50724524 G>C_DICKKFRQQEDQREAIWNVDLSTSS
11:55681965-55681965 A>C	0.0	4252	COLORECTAL	-	-	ID=COSM403638;OCCURENCE=1(large_intestine),1(lung),2(oesophagus)	-	OR5W2	NM_001001960,p.L32V|ENST00000344514,p.L32V|uc010rir.2,p.L32V	protein_coding	uc010rir.2	nonsynonymous SNV	exon1	c.T94G	p.L32V	NPEMKVTLFAVFLAVYIINFSANLG	NPEMKVTLFAVFVAVYIINFSANLG	2.0	9.0	unscreened	-	4252_11:55681965-55681965 A>C_NPEMKVTLFAVFVAVYIINFSANLG
7:17362208-17362208 C>A	0.0	4252	COLORECTAL	-	-	-	-	AHR	ENST00000463496,p.Q113K|ENST00000242057,p.Q113K|NM_001621,p.Q113K|uc011jxz.1,p.Q113K	protein_coding, processed_transcript, nonsense_mediated_decay	uc011jxz.1	nonsynonymous SNV	exon3	c.C337A	p.Q113K	CRAANFREGLNLQEGEFLLQALNGF	CRAANFREGLNLKEGEFLLQALNGF	7.0	2.0	unscreened	-	4252_7:17362208-17362208 C>A_CRAANFREGLNLKEGEFLLQALNGF
1:247978223-247978223 A>G	0.0	4252	COLORECTAL	-	-	ID=COSM2156439;OCCURENCE=2(central_nervous_system)	-	OR14A16	uc001idm.1,p.V270A|ENST00000357627,p.V270A|NM_001001966,p.V270A	protein_coding	uc001idm.1	nonsynonymous SNV	exon1	c.T809C	p.V270A	KPASESPSILDAVISVFYTMLPPTF	KPASESPSILDAAISVFYTMLPPTF	1.0	8.0	unscreened	-	4252_1:247978223-247978223 A>G_KPASESPSILDAAISVFYTMLPPTF
2:234879009-234879009 ->C	0.0	4252	COLORECTAL	-	-	ID=COSM1406477;OCCURENCE=2(large_intestine)	-	TRPM8	uc002vvh.3,p.H765fs|NM_024080,p.H765fs|ENST00000324695,p.H765fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002vvh.3	frameshift insertion	exon17	c.2295dupC	p.H765fs	AYVLLMDFHSVPHPPELVLYSLVFV	AYVLLMDFHSVPHPPRAGPVLAGLCPLL	3.0	8.0	unscreened	-	4252_2:234879009-234879009 ->C_AYVLLMDFHSVPHPPRAGPVLAGLCPLL
12:22487096-22487096 G>-	0.0	4252	COLORECTAL	-	-	-	-	ST8SIA1	ENST00000404299,p.P24fs	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000404299	frameshift deletion	exon1	c.71delC	p.P24fs	SRGAMAVLAWKFPRTRLPMGASALC	SRGAMAVLAWKFRGPGCPWEPVPSVSWSSVGSTSSPSTGCPTRKRSCRGCCNRARRGGGTRPRPERSASPHC	5.0	8.0	-	-	4252_12:22487096-22487096 G>-_SRGAMAVLAWKFRGPGCPWEPVPSVSWSSVGSTSSPSTGCPTRKRSCRGCCNRARRGGGTRPRPERSASPHC
X:63412427-63412427 G>T	0.0	4252	COLORECTAL	-	-	-	1	AMER1	uc022byb.1,p.P247Q|ENST00000330258,p.P247Q|ENST00000374869,p.P247Q|uc004dvo.3,p.P247Q|NM_152424,p.P247Q|ENST00000403336,p.P247Q	protein_coding	uc022byb.1	nonsynonymous SNV	exon1	c.C740A	p.P247Q	PGPKVSPTPEPSPPATEKMACKDPE	PGPKVSPTPEPSQPATEKMACKDPE	6.0	10.0	unscreened	-	4252_X:63412427-63412427 G>T_PGPKVSPTPEPSQPATEKMACKDPE
12:29709817-29709826 GCCCGGTTAT>-	0.0	4252	COLORECTAL	-	-	-	-	TMTC1	ENST00000256062,p.H439fs|NM_001193451,p.H547fs|uc001rjc.1,p.H501fs|ENST00000552618,p.H571fs|uc001rjb.3,p.H439fs|uc001riz.3,p.H196fs|uc021qwi.1,p.H547fs|ENST00000381224,p.H501fs|uc001rja.3,p.H283fs|NM_175861,p.H439fs|ENST00000551659,p.H609fs|ENST00000539277,p.H547fs	retained_intron, protein_coding, processed_transcript	uc021qwi.1	frameshift deletion	exon10	c.1640_1649del	p.H547fs	MYYQRALQLHPQHNRALFNLGNLLK	MYYQRALQLHPQLFSIWGISSSPRRKRKKLSPY	4.0	7.0	-	-	4252_12:29709817-29709826 GCCCGGTTAT>-_MYYQRALQLHPQLFSIWGISSSPRRKRKKLSPY
13:102379137-102379137 C>A	0.0	4252	COLORECTAL	-	-	-	-	FGF14	ENST00000376143,p.K144N|uc001vpe.2,p.K144N|NM_004115,p.K144N|ENST00000376131,p.K149N|uc001vpf.2,p.K149N|NM_175929,p.K149N	protein_coding, processed_transcript	uc001vpf.2	nonsynonymous SNV	exon4	c.G447T	p.K149N	YLYPSELFTPECKFKESVFENYYVI	YLYPSELFTPECNFKESVFENYYVI	2.0	5.0	unscreened	-	4252_13:102379137-102379137 C>A_YLYPSELFTPECNFKESVFENYYVI
16:72110426-72110426 C>G	0.0	4252	COLORECTAL	-	-	-	-	HPR	ENST00000540303,p.L165V|NM_020995,p.L165V|ENST00000228226,p.L202V|uc002fby.3,p.L165V|ENST00000356967,p.L165V	retained_intron, protein_coding	uc002fby.3	nonsynonymous SNV	exon5	c.C493G	p.L165V	NATAKDIAPTLTLYVGKKQLVEIEK	NATAKDIAPTLTVYVGKKQLVEIEK	7.0	5.0	unscreened	-	4252_16:72110426-72110426 C>G_NATAKDIAPTLTVYVGKKQLVEIEK
10:69948821-69948821 C>T	0.0	4252	COLORECTAL	0.0005	-	-	-	MYPN	NM_032578,p.R955W|uc001jnm.5,p.R955W|ENST00000358913,p.R955W|ENST00000354393,p.R680W|uc001jno.4,p.R955W|uc010qit.3,p.R661W|uc009xpt.3,p.R955W|NM_001256267,p.R955W|uc001jnn.5,p.R680W|ENST00000540630,p.R955W|NM_001256268,p.R661W	protein_coding	uc010qit.3	nonsynonymous SNV	exon17	c.C1981T	p.R661W	IAPIFDKRLKHFRVTEGSPVTFTCK	IAPIFDKRLKHFWVTEGSPVTFTCK	2.0	8.0	unscreened	-	4252_10:69948821-69948821 C>T_IAPIFDKRLKHFWVTEGSPVTFTCK
13:23932587-23932587 A>G	1.0	4252	COLORECTAL	-	-	-	-	SACS	uc001uon.3,p.F164S|ENST00000382292,p.F164S|uc001uoq.1,p.F17S|uc001uoo.3,p.F17S|NM_001278055,p.F17S|NM_014363,p.F164S|ENST00000382298,p.F164S	protein_coding, processed_transcript	uc001uoq.1	nonsynonymous SNV	exon3	c.T50C	p.F17S	QGPALYVYNNAVFTPEDWHGIQEIA	QGPALYVYNNAVSTPEDWHGIQEIA	5.0	7.0	-	-	4252_13:23932587-23932587 A>G_QGPALYVYNNAVSTPEDWHGIQEIA
5:33891901-33891901 A>C	0.0	4252	COLORECTAL	-	-	-	-	ADAMTS12	uc003jib.1,p.F21V|ENST00000352040,p.F21V|uc010iuq.1,p.F21V|NM_030955,p.F21V|ENST00000504830,p.F21V|uc003jia.1,p.F21V|ENST00000515401,p.F21V	protein_coding, processed_transcript	uc010iuq.1	nonsynonymous SNV	exon1	c.T61G	p.F21V	LANLSVVAQLLNFGALCYGRQPQPG	LANLSVVAQLLNVGALCYGRQPQPG	5.0	7.0	-	-	4252_5:33891901-33891901 A>C_LANLSVVAQLLNVGALCYGRQPQPG
18:59942746-59942746 ->T	0.0	4252	COLORECTAL	-	-	-	-	KIAA1468	ENST00000587725,p.I999fs	retained_intron, protein_coding, processed_transcript, non_stop_decay	ENST00000587725	frameshift insertion	exon22	c.2996dupT	p.I999fs	CQHMPLLVSIIMIFFFLRRRREFFL	CQHMPLLVSIIMIFFFFAKKKGIFFNKKALHI	7.0	5.0	unscreened	-	4252_18:59942746-59942746 ->T_CQHMPLLVSIIMIFFFFAKKKGIFFNKKALHI
11:62744717-62744717 C>A	0.0	4252	COLORECTAL	-	-	-	-	SLC22A6	NM_004790,p.V502F|NM_153276,p.V502F|ENST00000360421,p.V502F|ENST00000377871,p.V502F|uc001nwj.3,p.V502F|uc001nwk.3,p.V502F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001nwk.3	nonsynonymous SNV	exon9	c.G1504T	p.V502F	YGAVPVAASAVTVLLPETLGQPLPD	YGAVPVAASAVTFLLPETLGQPLPD	1.0	8.0	unscreened	-	4252_11:62744717-62744717 C>A_YGAVPVAASAVTFLLPETLGQPLPD
20:45354082-45354082 T>C	0.0	4252	COLORECTAL	-	-	-	-	SLC2A10	NM_030777,p.V136A|uc002xsl.3,p.V136A|ENST00000359271,p.V136A	protein_coding, processed_transcript	uc002xsl.3	nonsynonymous SNV	exon2	c.T407C	p.V136A	SELVGPRQRGVLVSLYEAGITVGIL	SELVGPRQRGVLASLYEAGITVGIL	8.0	2.0	unscreened	-	4252_20:45354082-45354082 T>C_SELVGPRQRGVLASLYEAGITVGIL
19:56544915-56544915 A>T	0.0	4252	COLORECTAL	-	-	-	-	NLRP5	uc002qmj.3,p.N819Y|ENST00000390649,p.N819Y|uc002qmi.3,p.N800Y|NM_153447,p.N819Y	protein_coding, nonsense_mediated_decay	uc002qmj.3	nonsynonymous SNV	exon9	c.A2455T	p.N819Y	HPTCKIQTLMFRNAQITPGVQHLWR	HPTCKIQTLMFRYAQITPGVQHLWR	1.0	8.0	unscreened	-	4252_19:56544915-56544915 A>T_HPTCKIQTLMFRYAQITPGVQHLWR
X:111914605-111914605 A>T	0.0	4252	COLORECTAL	-	-	-	-	LHFPL1	uc004epp.3,p.L28Q	protein_coding, processed_transcript	uc004epp.3	nonsynonymous SNV	exon1	c.T83A	p.L28Q	IPAEKPVTMRSSLTMVGTLWAFLSL	IPAEKPVTMRSSQTMVGTLWAFLSL	2.0	10.0	unscreened	-	4252_X:111914605-111914605 A>T_IPAEKPVTMRSSQTMVGTLWAFLSL
6:73904779-73904780 CT>-	0.0	4252	COLORECTAL	-	-	-	-	KCNQ5	NM_001160134,p.T704fs|ENST00000402622,p.T824fs|ENST00000355194,p.T814fs|NM_019842,p.T814fs|NM_001160132,p.T824fs|ENST00000414165,p.T704fs|uc011dyi.2,p.T824fs|ENST00000403813,p.T805fs|ENST00000370398,p.T814fs|ENST00000355635,p.T815fs|NM_001160133,p.T833fs|ENST00000342056,p.T833fs|uc011dyh.2,p.T833fs|uc011dyj.2,p.T704fs|uc003pgk.3,p.T814fs|uc010kat.3,p.T805fs|uc011dyk.2,p.T564fs|NM_001160130,p.T805fs	protein_coding	uc011dyk.2	frameshift deletion	exon12	c.1691_1692del	p.T564fs	RSMRKSFDMGGETLLSVCPMVPKDL	RSMRKSFDMGGETVVCLSHGAEGLGQIFVCAKPDQVDRGTEYTTFRE	2.0	7.0	unscreened	-	4252_6:73904779-73904780 CT>-_RSMRKSFDMGGETVVCLSHGAEGLGQIFVCAKPDQVDRGTEYTTFRE
7:144060804-144060804 T>G	1.0	4252	COLORECTAL	-	-	-	-	ARHGEF5	NM_005435,p.F348V|ENST00000056217,p.F348V|uc003wel.3,p.F348V|uc003wek.3,p.F348V	protein_coding	uc003wel.3	nonsynonymous SNV	exon2	c.T1042G	p.F348V	NRADSQDEKSQTFLGKSEEVTGKQE	NRADSQDEKSQTVLGKSEEVTGKQE	9.0	4.0	-	-	4252_7:144060804-144060804 T>G_NRADSQDEKSQTVLGKSEEVTGKQE
11:7324615-7324615 C>T	0.0	4252	COLORECTAL	0.0005	-	-	-	SYT9	ENST00000532592,p.S164L	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000532592	nonsynonymous SNV	exon2	c.C491T	p.S164L	VRVQRQVTEPTSSARTTWIWES	VRVQRQVTEPTSLARTTWIWES	1.0	9.0	unscreened	-	4252_11:7324615-7324615 C>T_VRVQRQVTEPTSLARTTWIWES
7:76912006-76912006 G>A	1.0	4252	COLORECTAL	-	-	-	-	CCDC146	uc010ldp.3,p.M398I|ENST00000431197,p.M398I|uc003uga.3,p.M684I|ENST00000285871,p.M684I|uc003ugc.3,p.M21I|NM_020879,p.M684I	retained_intron, protein_coding, processed_transcript	uc010ldp.3	nonsynonymous SNV	exon7	c.G1194A	p.M398I	IHLLEEKIQFLKMKIAEKQRQICVT	IHLLEEKIQFLKIKIAEKQRQICVT	7.0	6.0	-	-	4252_7:76912006-76912006 G>A_IHLLEEKIQFLKIKIAEKQRQICVT
11:7070941-7070941 C>G	0.0	4252	COLORECTAL	-	-	-	-	NLRP14	uc001mfb.1,p.I721M|NM_176822,p.I721M|ENST00000299481,p.I721M	protein_coding	uc001mfb.1	nonsynonymous SNV	exon6	c.C2163G	p.I721M	LKFITFPDGCQDISTSLIHNKNLMH	LKFITFPDGCQDMSTSLIHNKNLMH	1.0	8.0	unscreened	-	4252_11:7070941-7070941 C>G_LKFITFPDGCQDMSTSLIHNKNLMH
5:21975484-21975484 T>A	0.0	4252	COLORECTAL	-	-	-	-	CDH12	uc003jgk.2,p.D81V|ENST00000504376,p.D81V|uc010iuc.2,p.D81V|NM_004061,p.D81V|uc011cno.1,p.D81V|ENST00000382254,p.D81V|ENST00000522262,p.D81V	retained_intron, protein_coding, processed_transcript	uc011cno.1	nonsynonymous SNV	exon4	c.A242T	p.D81V	GSEPQYVGKLHSDLDKGEGTVKYTL	GSEPQYVGKLHSVLDKGEGTVKYTL	1.0	9.0	unscreened	-	4252_5:21975484-21975484 T>A_GSEPQYVGKLHSVLDKGEGTVKYTL
11:6566797-6566797 T>C	0.0	4252	COLORECTAL	-	-	-	-	DNHD1	ENST00000254579,p.L1543P|uc001mds.1,p.L253P|NM_144666,p.L1543P|uc001mdw.4,p.L1543P|ENST00000527990,p.L1543P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001mdw.4	nonsynonymous SNV	exon21	c.T4628C	p.L1543P	GTLAMVSMHMRKLEVLVNFMRAQRA	GTLAMVSMHMRKPEVLVNFMRAQRA	6.0	3.0	unscreened	-	4252_11:6566797-6566797 T>C_GTLAMVSMHMRKPEVLVNFMRAQRA
11:66108281-66108287 GCCTCTG>-	1.0	4252	COLORECTAL	-	-	-	-	BRMS1	uc009yre.3,p.S12fs	retained_intron, protein_coding, nonsense_mediated_decay	uc009yre.3	frameshift deletion	exon1	c.36_42del	p.S12fs	MTRCRGSCRSGSRGWRRTARAWTS	MTRCRGSCRSGSGGGPPEPGPQL	10.0	4.0	-	-	4252_11:66108281-66108287 GCCTCTG>-_MTRCRGSCRSGSGGGPPEPGPQL
1:245850810-245850810 G>T	0.0	4252	COLORECTAL	-	-	-	-	KIF26B	ENST00000407071,p.V1509F|uc001ibg.1,p.V1127F|uc001ibf.1,p.V1509F|uc001ibh.1,p.V751F|NM_018012,p.V1509F|ENST00000366518,p.V1128F	retained_intron, protein_coding, processed_transcript	uc001ibh.1	nonsynonymous SNV	exon3	c.G2251T	p.V751F	VSASPVTDNFRRVVDGCEMALPGLA	VSASPVTDNFRRFVDGCEMALPGLA	4.0	9.0	-	-	4252_1:245850810-245850810 G>T_VSASPVTDNFRRFVDGCEMALPGLA
X:151869917-151869917 A>G	0.0	4252	COLORECTAL	-	-	-	-	MAGEA6	NM_005363,p.I203V|ENST00000457643,p.I203V|uc022chf.1,p.I203V|ENST00000329342,p.I203V|uc004ffr.1,p.I203V|uc004ffq.1,p.I203V|NM_175868,p.I203V	protein_coding	uc022chf.1	nonsynonymous SNV	exon1	c.A607G	p.I203V	GDNQIMPKTGFLIIILAIIAKEGDC	GDNQIMPKTGFLVIILAIIAKEGDC	1.0	4.0	unscreened	-	4252_X:151869917-151869917 A>G_GDNQIMPKTGFLVIILAIIAKEGDC
6:116439080-116439081 AC>-	0.0	4252	COLORECTAL	-	-	-	-	NT5DC1	NM_152729,p.Q167fs|ENST00000419791,p.Q167fs|ENST00000319550,p.Q167fs|uc003pwl.3,p.Q117fs|uc003pwj.3,p.Q167fs	protein_coding, nonsense_mediated_decay	uc003pwl.3	frameshift deletion	exon3	c.351_352del	p.Q117fs	TFDFWKDIVAAIQHNYKMSAFKENC	TFDFWKDIVAAIQQL	8.0	3.0	unscreened	-	4252_6:116439080-116439081 AC>-_TFDFWKDIVAAIQQL
19:11977371-11977371 G>C	1.0	4252	COLORECTAL	-	-	-	-	ZNF439	uc002mss.3,p.Q65H|ENST00000442091,p.Q52H|ENST00000304030,p.Q65H|NM_152262,p.Q65H	retained_intron, protein_coding, processed_transcript	uc002mss.3	nonsynonymous SNV	exon2	c.G195C	p.Q65H	WNLTSIGKKWKDQNIEYEYQNPRRN	WNLTSIGKKWKDHNIEYEYQNPRRN	8.0	5.0	-	-	4252_19:11977371-11977371 G>C_WNLTSIGKKWKDHNIEYEYQNPRRN
1:160323982-160323982 G>T	1.0	4252	COLORECTAL	-	-	-	-	NCSTN	ENST00000368063,p.Q398H|ENST00000368065,p.Q160H|uc010pjg.2,p.Q160H|NM_015331,p.Q418H|uc010pjf.2,p.Q280H|NM_001290184,p.Q398H|uc001fvy.3,p.Q398H|uc001fvx.3,p.Q418H|ENST00000424754,p.Q162H|NM_001290186,p.Q280H|ENST00000392212,p.Q398H|ENST00000294785,p.Q418H|ENST00000535857,p.Q280H	protein_coding, processed_transcript	uc010pjg.2	nonsynonymous SNV	exon6	c.G480T	p.Q160H	AGVPAVILRRPNQSQPLPPSSLQRF	AGVPAVILRRPNHSQPLPPSSLQRF	9.0	9.0	-	-	4252_1:160323982-160323982 G>T_AGVPAVILRRPNHSQPLPPSSLQRF
11:62287812-62287812 G>C	0.0	4252	COLORECTAL	-	-	-	-	AHNAK	NM_001620,p.P4693A|uc001ntl.3,p.P4693A|ENST00000378024,p.P4693A	protein_coding, processed_transcript	uc001ntl.3	nonsynonymous SNV	exon5	c.C14077G	p.P4693A	IDVSGPKVDVDVPDVNIEGPDAKLK	IDVSGPKVDVDVADVNIEGPDAKLK	8.0	5.0	unscreened	-	4252_11:62287812-62287812 G>C_IDVSGPKVDVDVADVNIEGPDAKLK
9:35748559-35748580 GGACTCTTACAGTCTGTAACCT>-	0.0	4252	COLORECTAL	-	-	-	-	GBA2	ENST00000378094,p.Q41fs|uc011lpb.1,p.Q41fs|uc011lpd.2,p.Q41fs|ENST00000378103,p.Q41fs|NM_020944,p.Q41fs|uc003zxw.3,p.Q41fs|uc011lpc.1,p.Q41fs|ENST00000545786,p.Q41fs	protein_coding, processed_transcript	uc011lpd.2	frameshift deletion	exon2	c.122_143del	p.Q41fs	YCPEETGGTKDVQVTDCKSPEDSRP	YCPEETGGTKDVPKTADPQKRRTAAIRRTLGS	9.0	2.0	unscreened	-	4252_9:35748559-35748580 GGACTCTTACAGTCTGTAACCT>-_YCPEETGGTKDVPKTADPQKRRTAAIRRTLGS
7:99654690-99654690 G>A	1.0	4252	COLORECTAL	-	-	-	-	ZSCAN21	NM_145914,p.V21M|uc003usn.1,p.V20M|ENST00000292450,p.V21M|ENST00000543588,p.V21M|uc011kje.1,p.V20M|ENST00000438937,p.V21M|uc003uso.3,p.V21M|ENST00000456748,p.V21M	protein_coding, processed_transcript	uc011kje.1	nonsynonymous SNV	exon3	c.G58A	p.V20M	APVLGPRPPQEQVGPLMVKVEEKEE	APVLGPRPPQEQMGPLMVKVEEKEE	7.0	9.0	-	-	4252_7:99654690-99654690 G>A_APVLGPRPPQEQMGPLMVKVEEKEE
5:169141210-169141210 A>C	0.0	4252	COLORECTAL	-	-	-	-	DOCK2	uc010jjm.3,p.Q105P|ENST00000524185,p.Q613P|ENST00000256935,p.Q613P|uc010jjl.1,p.Q131P|NM_004946,p.Q613P|uc003maf.3,p.Q613P|ENST00000520908,p.Q105P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jjm.3	nonsynonymous SNV	exon4	c.A314C	p.Q105P	SISTLVCSTKLTQNVGLLGLLKWRM	SISTLVCSTKLTPNVGLLGLLKWRM	7.0	3.0	unscreened	-	4252_5:169141210-169141210 A>C_SISTLVCSTKLTPNVGLLGLLKWRM
1:206634592-206634592 G>T	1.0	4252	COLORECTAL	-	-	-	-	SRGAP2	ENST00000414007,p.A875S	protein_coding, processed_transcript	ENST00000414007	nonsynonymous SNV	exon19	c.G2623T	p.A875S	DPEPAFQRSASTAGDIACAFRPVKS	DPEPAFQRSASTSGDIACAFRPVKS	7.0	9.0	-	-	4252_1:206634592-206634592 G>T_DPEPAFQRSASTSGDIACAFRPVKS
19:23836507-23836507 C>A	1.0	4252	COLORECTAL	-	-	-	-	ZNF675	uc002nri.3,p.A410S|NM_138330,p.A410S|ENST00000359788,p.A410S	retained_intron, protein_coding, nonsense_mediated_decay	uc002nri.3	nonsynonymous SNV	exon4	c.G1228T	p.A410S	CKECGKAFKHSSALTTHKRIHTGEK	CKECGKAFKHSSSLTTHKRIHTGEK	7.0	2.0	unscreened	-	4252_19:23836507-23836507 C>A_CKECGKAFKHSSSLTTHKRIHTGEK
15:89401991-89401991 C>T	0.0	4252	COLORECTAL	-	-	-	-	ACAN	uc010upo.1,p.P2059S|ENST00000352105,p.P2059S|NM_013227,p.P2059S|uc010upp.1,p.P2059S|NM_001135,p.P2059S|ENST00000559004,p.P2059S|ENST00000561243,p.P2059S|ENST00000439576,p.P2059S	retained_intron, protein_coding	uc010upp.1	nonsynonymous SNV	exon12	c.C6175T	p.P2059S	EPTISQELGQRPPVTHTPQLFESSG	EPTISQELGQRPSVTHTPQLFESSG	6.0	3.0	unscreened	-	4252_15:89401991-89401991 C>T_EPTISQELGQRPSVTHTPQLFESSG
17:38927975-38927975 C>T	0.0	4252	COLORECTAL	-	-	-	-	KRT26	uc002hvf.3,p.D131N|ENST00000335552,p.D131N|NM_181539,p.D131N	protein_coding	uc002hvf.3	nonsynonymous SNV	exon1	c.G391A	p.D131N	YEKCEPGSSREHDHDYSRYFSVIED	YEKCEPGSSREHNHDYSRYFSVIED	1.0	10.0	unscreened	-	4252_17:38927975-38927975 C>T_YEKCEPGSSREHNHDYSRYFSVIED
2:74902883-74902883 T>A	0.0	4252	COLORECTAL	-	-	-	-	SEMA4F	ENST00000339773,p.L342H|uc002sna.2,p.L497H|NM_001271662,p.L464H|uc002snc.2,p.L342H|NM_001271661,p.L342H|uc010ffq.2,p.L464H|uc002snb.2,p.L109H|ENST00000357877,p.L497H|NM_004263,p.L497H|uc010ffr.2,p.L109H	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ffr.2	nonsynonymous SNV	exon10	c.T326A	p.L109H	QPVENMKLYHSWLLVGSRTEVTQVN	QPVENMKLYHSWHLVGSRTEVTQVN	6.0	6.0	unscreened	-	4252_2:74902883-74902883 T>A_QPVENMKLYHSWHLVGSRTEVTQVN
6:163735867-163735867 G>A	1.0	4252	COLORECTAL	-	-	-	-	PACRG	ENST00000366888,p.G208R|uc003qub.3,p.G208R|NM_001080379,p.G208R|uc003quc.3,p.G208R|ENST00000366889,p.G208R|NM_001080378,p.G208R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003quc.3	nonsynonymous SNV	exon5	c.G622A	p.G208R	VLNIFKNMNVNSGDGIDYSQQKREN	VLNIFKNMNVNSRDGIDYSQQKREN	6.0	8.0	-	-	4252_6:163735867-163735867 G>A_VLNIFKNMNVNSRDGIDYSQQKREN
8:72959442-72959442 C>T	0.0	4252	COLORECTAL	-	-	-	-	TRPA1	ENST00000262209,p.V636I|ENST00000523582,p.V488I|NM_007332,p.V636I|uc003xza.3,p.V636I	retained_intron, protein_coding, processed_transcript	uc003xza.3	nonsynonymous SNV	exon16	c.G1906A	p.V636I	TEMIEYLPECMKVLLDFCMLHSTED	TEMIEYLPECMKILLDFCMLHSTED	3.0	5.0	unscreened	-	4252_8:72959442-72959442 C>T_TEMIEYLPECMKILLDFCMLHSTED
15:76018476-76018476 C>T	1.0	4252	COLORECTAL	-	-	-	-	ODF3L1	NM_175881,p.P103S|ENST00000332145,p.P103S|uc002bax.1,p.P103S	protein_coding	uc002bax.1	nonsynonymous SNV	exon3	c.C307T	p.P103S	DPKITRFGMSSCPQVPMEERISNLR	DPKITRFGMSSCSQVPMEERISNLR	5.0	9.0	-	-	4252_15:76018476-76018476 C>T_DPKITRFGMSSCSQVPMEERISNLR
1:241146395-241146395 T>G	0.0	4252	COLORECTAL	-	-	-	2	RGS7	ENST00000348120,p.L70F|NM_001282773,p.L70F|uc009xgn.1,p.L70F|ENST00000401882,p.L70F	protein_coding	uc009xgn.1	nonsynonymous SNV	exon3	c.A210C	p.L70F	SGSDIVQWLIKNLTIEDPAVYLCKR	SGSDIVQWLIKNFTIEDPAVYLCKR	2.0	4.0	unscreened	-	4252_1:241146395-241146395 T>G_SGSDIVQWLIKNFTIEDPAVYLCKR
1:57233563-57233563 A>C	0.0	4252	COLORECTAL	-	-	-	-	C1orf168	NM_001004303,p.I334M|uc001cym.4,p.I334M|ENST00000343433,p.I334M	retained_intron, protein_coding, processed_transcript	uc001cym.4	nonsynonymous SNV	exon5	c.T1002G	p.I334M	AEFEEPHNYEATISYLRHSGNSINL	AEFEEPHNYEATMSYLRHSGNSINL	3.0	4.0	unscreened	-	4252_1:57233563-57233563 A>C_AEFEEPHNYEATMSYLRHSGNSINL
2:170053464-170053464 T>G	0.0	4252	COLORECTAL	-	-	-	-	LRP2	uc002ues.3,p.Q2885H|ENST00000263816,p.Q2885H|NM_004525,p.Q2885H	retained_intron, protein_coding, processed_transcript	uc002ues.3	nonsynonymous SNV	exon46	c.A8655C	p.Q2885H	SGRCIPQHWYCDQETDCFDASDEPA	SGRCIPQHWYCDHETDCFDASDEPA	4.0	4.0	unscreened	-	4252_2:170053464-170053464 T>G_SGRCIPQHWYCDHETDCFDASDEPA
19:9076758-9076758 G>A	0.0	4252	COLORECTAL	-	-	-	2	MUC16	uc002mkp.3,p.T3563I|NM_024690,p.T3563I|ENST00000397910,p.T3563I	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C10688T	p.T3563I	STTTPNPEVGMSTMDSTPATERRTT	STTTPNPEVGMSIMDSTPATERRTT	3.0	9.0	unscreened	-	4252_19:9076758-9076758 G>A_STTTPNPEVGMSIMDSTPATERRTT
17:38519685-38519685 C>A	0.0	4252	COLORECTAL	-	-	-	-	GJD3	ENST00000578774,p.A166E|uc010cxa.1,p.A166E	protein_coding	uc010cxa.1	nonsynonymous SNV	exon2	c.C497A	p.A166E	HAQQVAAARAAGAQGARRALGLGQS	HAQQVAAARAAGEQGARRALGLGQS	7.0	2.0	unscreened	-	4252_17:38519685-38519685 C>A_HAQQVAAARAAGEQGARRALGLGQS
9:139794988-139795007 TGTGGCATGGTGACAGAAGC>-	0.0	4252	COLORECTAL	-	-	-	-	TRAF2	ENST00000359662,p.C128fs|uc010nbv.1,p.C128fs	protein_coding, processed_transcript	uc010nbv.1	frameshift deletion	exon4	c.382_401del	p.C128fs	GTLKEYEVKMPACGMVTEAPAVGSR	GTLKEYEVKMPASSSRESSTLPKQL	9.0	6.0	-	-	4252_9:139794988-139795007 TGTGGCATGGTGACAGAAGC>-_GTLKEYEVKMPASSSRESSTLPKQL
1:13365921-13365921 A>G	0.0	4252	COLORECTAL	-	rs199562274	-	-	LOC101929983,PRAMEF5,PRAMEF6	ENST00000376168,p.H122R|NM_001013407,p.H122R	protein_coding	NM_001013407	nonsynonymous SNV	exon3	c.A365G	p.H122R	ENFWMVWSEAMAHGCFLNAKRNKKP	ENFWMVWSEAMARGCFLNAKRNKKP	1.0	6.0	unscreened	-	4252_1:13365921-13365921 A>G_ENFWMVWSEAMARGCFLNAKRNKKP
11:5443642-5443642 C>T	0.0	4252	COLORECTAL	-	-	-	-	OR51Q1	NM_001004757,p.T71M|uc010qzd.2,p.T71M|ENST00000300778,p.T71M	protein_coding	uc010qzd.2	nonsynonymous SNV	exon1	c.C212T	p.T71M	QRMYLFLSMLALTDLGLTLTTLPTV	QRMYLFLSMLALMDLGLTLTTLPTV	1.0	8.0	unscreened	-	4252_11:5443642-5443642 C>T_QRMYLFLSMLALMDLGLTLTTLPTV
5:137485344-137485344 G>C	0.0	4252	COLORECTAL	-	-	-	-	BRD8	uc003lcf.1,p.A1088G|ENST00000254900,p.A1088G|NM_139199,p.A1088G|ENST00000427976,p.A194G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003lcf.1	nonsynonymous SNV	exon23	c.C3263G	p.A1088G	KETPLVDTLFSHATSSKLTDLSQDD	KETPLVDTLFSHGTSSKLTDLSQDD	9.0	6.0	unscreened	-	4252_5:137485344-137485344 G>C_KETPLVDTLFSHGTSSKLTDLSQDD
3:56694812-56694812 T>C	0.0	4252	COLORECTAL	-	-	-	-	FAM208A	uc003did.4,p.R439G|NM_015224,p.R43G|ENST00000431842,p.R43G|uc003die.4,p.R439G|NM_001112736,p.R439G|ENST00000493960,p.R439G|uc003dic.4,p.R43G|ENST00000355628,p.R439G	retained_intron, protein_coding, processed_transcript	uc003die.4	nonsynonymous SNV	exon11	c.A1315G	p.R439G	MYCSLYEVVEKTRIGSNMESLLQKL	MYCSLYEVVEKTGIGSNMESLLQKL	9.0	4.0	unscreened	-	4252_3:56694812-56694812 T>C_MYCSLYEVVEKTGIGSNMESLLQKL
3:186917551-186917551 G>A	0.0	4252	COLORECTAL	-	-	-	-	RTP1	ENST00000312295,p.R162H|uc003frg.3,p.R162H|NM_153708,p.R162H	protein_coding	uc003frg.3	nonsynonymous SNV	exon2	c.G485A	p.R162H	IEGLVDNLITSLREQCYGERGGQYR	IEGLVDNLITSLHEQCYGERGGQYR	2.0	10.0	unscreened	-	4252_3:186917551-186917551 G>A_IEGLVDNLITSLHEQCYGERGGQYR
12:104327791-104327791 G>C	1.0	4252	COLORECTAL	-	-	-	-	HSP90B1	uc001tkb.2,p.E157Q|ENST00000299767,p.E157Q|uc009zui.2,p.E157Q|NM_003299,p.E157Q	retained_intron, protein_coding, nonsense_mediated_decay	uc009zui.2	nonsynonymous SNV	exon5	c.G469C	p.E157Q	LHVTDTGVGMTREELVKNLGTIAKS	LHVTDTGVGMTRQELVKNLGTIAKS	10.0	4.0	-	-	4252_12:104327791-104327791 G>C_LHVTDTGVGMTRQELVKNLGTIAKS
8:131124397-131124397 A>G	1.0	4252	COLORECTAL	-	-	-	-	ASAP1	uc011liw.2,p.S775P|uc003yta.2,p.S782P|uc003ysz.2,p.S593P|NM_001247996,p.S775P|ENST00000357668,p.S782P|NM_018482,p.S782P|ENST00000518721,p.S782P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011liw.2	nonsynonymous SNV	exon25	c.T2323C	p.S775P	FTNQIFVSTSTDSPTSPTTEAPPLP	FTNQIFVSTSTDPPTSPTTEAPPLP	7.0	1.0	-	-	4252_8:131124397-131124397 A>G_FTNQIFVSTSTDPPTSPTTEAPPLP
12:11243903-11243903 G>A	1.0	4252	COLORECTAL	-	-	-	-	TAS2R43	NM_176884,p.P309L|ENST00000531678,p.P309L|uc001qzq.1,p.P309L	protein_coding	uc001qzq.1	nonsynonymous SNV	exon1	c.C926T	p.P309L	MRYWVKGEKTSSP	MRYWVKGEKTSSL	3.0	10.0	-	-	4252_12:11243903-11243903 G>A_MRYWVKGEKTSSL
12:40012526-40012526 T>C	0.0	4252	COLORECTAL	-	-	-	-	ABCD2	ENST00000308666,p.R298G|uc001rmb.2,p.R298G|NM_005164,p.R298G	protein_coding	uc001rmb.2	nonsynonymous SNV	exon1	c.A892G	p.R298G	AHRKGYLRYVHSRIIANVEEIAFYR	AHRKGYLRYVHSGIIANVEEIAFYR	2.0	1.0	unscreened	-	4252_12:40012526-40012526 T>C_AHRKGYLRYVHSGIIANVEEIAFYR
6:3083383-3083383 A>G	0.0	4252	COLORECTAL	-	-	-	-	RIPK1	ENST00000541791,p.E129G|ENST00000259808,p.E175G|ENST00000380409,p.E175G|NM_003804,p.E175G|uc011dhs.2,p.E129G|uc003mux.3,p.E175G|uc010jni.3,p.E175G	protein_coding, processed_transcript	uc011dhs.2	nonsynonymous SNV	exon3	c.A386G	p.E129G	KMWSKLNNEEHNELREVDGTAKKNG	KMWSKLNNEEHNGLREVDGTAKKNG	8.0	1.0	unscreened	-	4252_6:3083383-3083383 A>G_KMWSKLNNEEHNGLREVDGTAKKNG
1:12908057-12908057 T>C	0.0	4252	COLORECTAL	-	-	-	-	HNRNPCL1,HNRNPCL3,HNRNPCL4	uc009vno.2,p.K29R|NM_001146181,p.K29R|ENST00000317869,p.K29R|NM_001013631,p.K29R|uc010obf.2,p.K29R	protein_coding	uc010obf.2	nonsynonymous SNV	exon2	c.A86G	p.K29R	RVFIGNLNTLVVKKSDVEAIFSKYG	RVFIGNLNTLVVRKSDVEAIFSKYG	5.0	1.0	unscreened	-	4252_1:12908057-12908057 T>C_RVFIGNLNTLVVRKSDVEAIFSKYG
1:160093091-160093091 A>T	0.0	4252	COLORECTAL	-	-	-	-	ATP1A2	uc001fvb.2,p.K89M|ENST00000361216,p.K89M|uc001fvc.3,p.K89M|ENST00000392233,p.K89M|NM_000702,p.K89M	protein_coding, processed_transcript	uc001fvc.3	nonsynonymous SNV	exon4	c.A266T	p.K89M	ALTPPPTTPEWVKFCRQLFGGFSIL	ALTPPPTTPEWVMFCRQLFGGFSIL	4.0	4.0	unscreened	-	4252_1:160093091-160093091 A>T_ALTPPPTTPEWVMFCRQLFGGFSIL
2:73680569-73680569 A>C	0.0	4252	COLORECTAL	-	-	-	-	ALMS1	uc002sjf.1,p.E2262D|ENST00000264448,p.E2304D|ENST00000409009,p.E2262D|uc002sjg.3,p.E1692D|uc002sjh.1,p.E1692D|ENST00000377715,p.E2304D|ENST00000423048,p.E582D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002sjh.1	nonsynonymous SNV	exon1	c.A5076C	p.E1692D	SFIQSKKVVCFKEPSSTGVSNGDLL	SFIQSKKVVCFKDPSSTGVSNGDLL	8.0	7.0	-	-	4252_2:73680569-73680569 A>C_SFIQSKKVVCFKDPSSTGVSNGDLL
10:17659217-17659217 G>A	1.0	4252	COLORECTAL	-	-	-	-	PTPLA	uc001iph.1,p.A41V|ENST00000361271,p.A41V|uc001ipi.3,p.A41V|uc001ipg.3,p.A41V|NM_014241,p.A41V|ENST00000326961,p.A41V	retained_intron, protein_coding, nonsense_mediated_decay	uc001ipi.3	nonsynonymous SNV	exon1	c.C122T	p.A41V	LSPTSPRCAATMASSDEDGTNGGAS	LSPTSPRCAATMVSSDEDGTNGGAS	9.0	9.0	-	-	4252_10:17659217-17659217 G>A_LSPTSPRCAATMVSSDEDGTNGGAS
12:10462056-10462056 C>T	0.0	4252	COLORECTAL	0.0005	-	ID=COSM3687909;OCCURENCE=1(large_intestine)	-	KLRD1	uc001qxw.4,p.T26M|uc001qxx.4,p.T26M|NM_001114396,p.T26M|NM_002262,p.T26M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001qxx.4	nonsynonymous SNV	exon2	c.C77T	p.T26M	GTLGIICLSLMATLGILLKNSFTKL	GTLGIICLSLMAMLGILLKNSFTKL	6.0	7.0	-	-	4252_12:10462056-10462056 C>T_GTLGIICLSLMAMLGILLKNSFTKL
7:139797347-139797347 G>T	1.0	4252	COLORECTAL	-	-	-	-	KDM7A	ENST00000397560,p.L672M|NM_030647,p.L672M|ENST00000006967,p.L672M|uc003vvm.3,p.L672M	retained_intron, protein_coding, nonsense_mediated_decay	uc003vvm.3	nonsynonymous SNV	exon15	c.C2014A	p.L672M	SESEDSGPECTALKSIFTTEESESS	SESEDSGPECTAMKSIFTTEESESS	7.0	9.0	-	-	4252_7:139797347-139797347 G>T_SESEDSGPECTAMKSIFTTEESESS
20:46267940-46267940 A>G	0.0	4252	COLORECTAL	-	-	-	-	NCOA3	NM_006534,p.S901G|ENST00000372004,p.S901G|uc010zyc.2,p.S696G|uc002xtl.3,p.S901G|NM_001174087,p.S901G|uc002xtm.3,p.S901G|ENST00000371998,p.S901G|uc002xtn.3,p.S901G|NM_181659,p.S901G|uc002xtk.3,p.S901G	protein_coding, processed_transcript	uc010zyc.2	nonsynonymous SNV	exon9	c.A2086G	p.S696G	PRMMDSQENYGSSMGGPNRNVTVTQ	PRMMDSQENYGSGMGGPNRNVTVTQ	8.0	1.0	unscreened	-	4252_20:46267940-46267940 A>G_PRMMDSQENYGSGMGGPNRNVTVTQ
22:46786346-46786346 C>A	0.0	4252	COLORECTAL	-	-	-	-	CELSR1	uc003bhw.1,p.W2096C|ENST00000262738,p.W2096C|uc011arc.1,p.W417C|NM_014246,p.W2096C	retained_intron, protein_coding, processed_transcript	uc011arc.1	nonsynonymous SNV	exon9	c.G1251T	p.W417C	GNAVRHCSGEKGWLPPELFNCTTIS	GNAVRHCSGEKGCLPPELFNCTTIS	7.0	6.0	unscreened	-	4252_22:46786346-46786346 C>A_GNAVRHCSGEKGCLPPELFNCTTIS
6:30995642-30995642 G>T	0.0	4252	COLORECTAL	-	-	-	-	MUC22	uc021yug.1,p.G812C|uc021yuh.1,p.G815C|NM_001198815,p.G812C|ENST00000561890,p.G812C	protein_coding	uc021yuh.1	nonsynonymous SNV	exon3	c.G2443T	p.G815C	TTGLETTTTSTEGSEMTTVSTTGAE	TTGLETTTTSTECSEMTTVSTTGAE	1.0	1.0	unscreened	-	4252_6:30995642-30995642 G>T_TTGLETTTTSTECSEMTTVSTTGAE
10:131565163-131565163 T>G	1.0	4252	COLORECTAL	-	-	-	-	MGMT	ENST00000306010,p.L207V|uc001lkh.2,p.L207V|NM_002412,p.L207V	retained_intron, protein_coding, processed_transcript	uc001lkh.2	nonsynonymous SNV	exon5	c.T619G	p.L207V	VKEWLLAHEGHRLGKPGLGGSSGLA	VKEWLLAHEGHRVGKPGLGGSSGLA	10.0	5.0	-	-	4252_10:131565163-131565163 T>G_VKEWLLAHEGHRVGKPGLGGSSGLA
8:144994720-144994720 T>C	0.0	4252	COLORECTAL	-	-	-	-	PLEC	uc003zae.1,p.E3058G|NM_201378,p.E3076G|uc003zah.2,p.E3076G|ENST00000354958,p.E3068G|NM_201383,p.E3094G|ENST00000322810,p.E3227G|NM_201384,p.E3090G|NM_000445,p.E3117G|uc003zaf.1,p.E3227G|uc003zac.1,p.E3094G|NM_201381,p.E3058G|uc003zaj.2,p.E3117G|ENST00000357649,p.E3094G|ENST00000527096,p.E3113G|ENST00000354589,p.E3090G|uc003zad.2,p.E3090G|NM_201382,p.E3090G|ENST00000436759,p.E3117G|ENST00000345136,p.E3090G|ENST00000356346,p.E3076G|uc003zab.1,p.E3090G|NM_201380,p.E3227G|uc003zag.1,p.E3068G|NM_201379,p.E3068G|ENST00000398774,p.E3058G	retained_intron, protein_coding	uc003zaj.2	nonsynonymous SNV	exon33	c.A9350G	p.E3117G	VDEAVRAGLVGPEFHEKLLSAEKAV	VDEAVRAGLVGPGFHEKLLSAEKAV	8.0	2.0	unscreened	-	4252_8:144994720-144994720 T>C_VDEAVRAGLVGPGFHEKLLSAEKAV
12:40941583-40941583 C>T	0.0	4252	COLORECTAL	-	-	-	-	MUC19	uc009zjx.1,p.T107M	retained_intron, protein_coding, processed_transcript	uc009zjx.1	nonsynonymous SNV	exon7	c.C320T	p.T107M	AKQGTRSTIEATTSFRGTGTTGSGM	AKQGTRSTIEATMSFRGTGTTGSGM	1.0	8.0	unscreened	-	4252_12:40941583-40941583 C>T_AKQGTRSTIEATMSFRGTGTTGSGM
2:11802233-11802233 C>A	0.0	4252	COLORECTAL	-	-	-	-	NTSR2	uc002rbq.4,p.R253L|NM_012344,p.R253L|ENST00000306928,p.R253L	protein_coding	uc002rbq.4	nonsynonymous SNV	exon2	c.G758T	p.R253L	PSTSTPGSSTPSRLELLSEEGLLSF	PSTSTPGSSTPSLLELLSEEGLLSF	1.0	9.0	unscreened	-	4252_2:11802233-11802233 C>A_PSTSTPGSSTPSLLELLSEEGLLSF
1:248814129-248814129 G>T	0.0	4252	COLORECTAL	-	-	ID=COSM3400619;OCCURENCE=1(central_nervous_system)	-	OR2T27	ENST00000344889,p.S19R|uc010pzo.2,p.S19R|NM_001001824,p.S19R	protein_coding	uc010pzo.2	nonsynonymous SNV	exon1	c.C57A	p.S19R	SVYADFILLGLFSNARFPWLLFALI	SVYADFILLGLFRNARFPWLLFALI	1.0	7.0	unscreened	-	4252_1:248814129-248814129 G>T_SVYADFILLGLFRNARFPWLLFALI
12:10462056-10462056 C>T	0.0	4252	COLORECTAL	0.0005	-	ID=COSM3687909;OCCURENCE=1(large_intestine)	-	KLRD1	ENST00000381907,p.T26M|uc001qxz.4,p.T26M|uc009zhi.3,p.T26M|ENST00000543420,p.T26M|ENST00000539374,p.T26M|ENST00000344825,p.T26M|ENST00000336164,p.T26M|ENST00000381908,p.T26M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zhi.3	nonsynonymous SNV	exon2	c.C77T	p.T26M	GTLGIICLSLMSTLGILLKNSFTKL	GTLGIICLSLMSMLGILLKNSFTKL	6.0	7.0	unscreened	-	4252_12:10462056-10462056 C>T_GTLGIICLSLMSMLGILLKNSFTKL
2:5833707-5833707 C>T	0.0	4252	COLORECTAL	-	-	-	-	SOX11	ENST00000322002,p.A285V|NM_003108,p.A285V|uc002qyj.3,p.A285V	protein_coding	uc002qyj.3	nonsynonymous SNV	exon1	c.C854T	p.A285V	AKVPASPTLSSSAESPEGASLYDEV	AKVPASPTLSSSVESPEGASLYDEV	1.0	8.0	unscreened	-	4252_2:5833707-5833707 C>T_AKVPASPTLSSSVESPEGASLYDEV
6:66115188-66115188 C>A	0.0	4252	COLORECTAL	-	-	-	-	EYS	uc003per.1,p.S312I|NM_001142801,p.S312I|ENST00000370618,p.S312I|ENST00000393380,p.S312I|NM_198283,p.S312I|NM_001142800,p.S312I|ENST00000503581,p.S312I|ENST00000342421,p.S312I|uc003peq.3,p.S312I|uc021zbn.1,p.S312I|NM_001292009,p.S312I|ENST00000370616,p.S312I|uc011dxu.1,p.S312I|ENST00000370621,p.S312I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zbn.1	nonsynonymous SNV	exon6	c.G935T	p.S312I	SLLFWKRGICPNSSSAYTYECPKGS	SLLFWKRGICPNISSAYTYECPKGS	3.0	9.0	-	-	4252_6:66115188-66115188 C>A_SLLFWKRGICPNISSAYTYECPKGS
7:15584412-15584412 G>T	0.0	4252	COLORECTAL	-	-	-	-	AGMO	NM_001004320,p.H132N|uc003stb.1,p.H132N|ENST00000342526,p.H132N	protein_coding, processed_transcript	uc003stb.1	nonsynonymous SNV	exon3	c.C394A	p.H132N	AFLGVDFGYYWFHRMAHEVNIMWAG	AFLGVDFGYYWFNRMAHEVNIMWAG	4.0	2.0	unscreened	-	4252_7:15584412-15584412 G>T_AFLGVDFGYYWFNRMAHEVNIMWAG
11:12316387-12316389 CTA>-	0.0	4252	COLORECTAL	-	-	ID=COSM128728;OCCURENCE=1(skin),1(upper_aerodigestive_tract),1(oesophagus)	-	MICALCL	ENST00000256186,p.470_471del|NM_032867,p.470_471del|uc001mkg.1,p.470_471del	protein_coding, processed_transcript	uc001mkg.1	nonframeshift deletion	exon3	c.1409_1411del	p.470_471del	PPPPPPPPPPPPPTAGGADSKNFPL	PPPPPPPPPPPPPAGGADSKNFPLR	5.0	10.0	unscreened	-	4252_11:12316387-12316389 CTA>-_PPPPPPPPPPPPPAGGADSKNFPLR
16:47536908-47536910 TGA>-	1.0	4252	COLORECTAL	-	-	-	-	PHKB	NM_001031835,p.97_98del|uc002eev.4,p.104_105del|NM_000293,p.104_105del|uc002eeu.4,p.97_98del|ENST00000455779,p.97_98del|ENST00000323584,p.104_105del|ENST00000299167,p.104_105del|ENST00000566044,p.97_98del|uc010vgi.1,p.97_98del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vgi.1	nonframeshift deletion	exon5	c.291_293del	p.97_98del	AGAWALALAYRRIDDDKGRTHELEH	AGAWALALAYRRIDDKGRTHELEHS	9.0	8.0	-	-	4252_16:47536908-47536910 TGA>-_AGAWALALAYRRIDDKGRTHELEHS
6:55304338-55304338 T>A	0.0	4252	COLORECTAL	-	-	-	-	HMGCLL1	uc011dxe.2,p.D106V|ENST00000508459,p.D106V	protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxe.2	nonsynonymous SNV	exon4	c.A317T	p.D106V	SRWVPQMGINVVDSAVSGLGGCPYA	SRWVPQMGINVVVSAVSGLGGCPYA	3.0	1.0	unscreened	-	4252_6:55304338-55304338 T>A_SRWVPQMGINVVVSAVSGLGGCPYA
18:19378187-19378187 G>C	0.0	4252	COLORECTAL	-	-	-	-	MIB1	NM_020774,p.G412A|ENST00000261537,p.G412A|uc002ktq.3,p.G412A|uc002ktp.3,p.G51A	retained_intron, protein_coding, processed_transcript	uc002ktq.3	nonsynonymous SNV	exon8	c.G1235C	p.G412A	VASAGSAISNASGERLSQLLKKLFE	VASAGSAISNASAERLSQLLKKLFE	5.0	2.0	unscreened	-	4252_18:19378187-19378187 G>C_VASAGSAISNASAERLSQLLKKLFE
12:121880168-121880168 G>T	1.0	4252	COLORECTAL	-	-	-	-	KDM2B	uc010szx.2,p.P274T|uc001uaq.3,p.P466T|uc010szy.2,p.P466T|NM_001005366,p.P957T|uc021rfe.1,p.P1026T|ENST00000542973,p.P394T|ENST00000377071,p.P1026T|uc021rfd.1,p.P957T|ENST00000377069,p.P957T|NM_032590,p.P1026T|uc001uao.3,p.P274T|uc001uas.3,p.P957T|uc001uat.3,p.P1026T|uc001uar.3,p.P617T	retained_intron, protein_coding, nonsense_mediated_decay	uc021rfe.1	nonsynonymous SNV	exon19	c.C3076A	p.P1026T	PSLRSPPRVISRPPPSVSPPKCIQM	PSLRSPPRVISRTPPSVSPPKCIQM	7.0	9.0	-	-	4252_12:121880168-121880168 G>T_PSLRSPPRVISRTPPSVSPPKCIQM
17:38519685-38519685 C>A	0.0	4252	COLORECTAL	-	-	-	-	GJD3	ENST00000337376,p.R128L|uc010cwz.3,p.R128L|NM_152219,p.R128L|ENST00000578689,p.R128L	protein_coding	uc010cwz.3	nonsynonymous SNV	exon1	c.G383T	p.R128L	GLPEAQCAPCALRARRARRCYLLSV	GLPEAQCAPCALLARRARRCYLLSV	7.0	2.0	unscreened	-	4252_17:38519685-38519685 C>A_GLPEAQCAPCALLARRARRCYLLSV
19:10226649-10226649 G>A	1.0	4252	COLORECTAL	-	-	-	-	EIF3G	ENST00000587146,p.R198C|ENST00000253108,p.R233C|ENST00000588709,p.R235C|uc002mnd.3,p.R233C|NM_003755,p.R233C|ENST00000589454,p.R225C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mnd.3	nonsynonymous SNV	exon8	c.C697T	p.R233C	GASRRGESMQPNRRADDNATIRVTN	GASRRGESMQPNCRADDNATIRVTN	10.0	3.0	-	-	4252_19:10226649-10226649 G>A_GASRRGESMQPNCRADDNATIRVTN
19:9082445-9082445 A>C	0.0	4252	COLORECTAL	-	-	-	2	MUC16	uc002mkp.3,p.L3124V|NM_024690,p.L3124V|ENST00000397910,p.L3124V	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.T9370G	p.L3124V	TLTFTPSETPTSLLPVSSPTEPTAR	TLTFTPSETPTSVLPVSSPTEPTAR	3.0	5.0	unscreened	-	4252_19:9082445-9082445 A>C_TLTFTPSETPTSVLPVSSPTEPTAR
4:185941561-185941561 T>A	0.0	4252	COLORECTAL	-	-	-	-	HELT	ENST00000338875,p.L207M|NM_001300781,p.L122M|ENST00000505610,p.L121M|uc011ckp.1,p.L65M|uc011cko.2,p.L122M|uc003ixa.3,p.L121M|uc011ckq.2,p.L207M|ENST00000515777,p.L122M|NM_001300782,p.L121M	retained_intron, protein_coding	uc011ckq.2	nonsynonymous SNV	exon4	c.T619A	p.L207M	TKDTKYARILAFLQSKARLGAEPAF	TKDTKYARILAFMQSKARLGAEPAF	1.0	3.0	unscreened	-	4252_4:185941561-185941561 T>A_TKDTKYARILAFMQSKARLGAEPAF
2:72359552-72359552 T>C	0.0	4252	COLORECTAL	-	-	-	-	CYP26B1	ENST00000001146,p.K448R|ENST00000546307,p.K373R|uc010yra.1,p.K431R|NM_001277742,p.K373R|NM_019885,p.K448R|uc002sih.2,p.K448R|ENST00000412253,p.K257R|uc010yrb.2,p.K373R	protein_coding	uc010yrb.2	nonsynonymous SNV	exon5	c.A1118G	p.K373R	GGVRTCLGKHLAKLFLKVLAVELAS	GGVRTCLGKHLARLFLKVLAVELAS	4.0	10.0	-	-	4252_2:72359552-72359552 T>C_GGVRTCLGKHLARLFLKVLAVELAS
5:1394869-1394869 C>T	0.0	4252	COLORECTAL	-	-	-	-	SLC6A3	ENST00000270349,p.R615H|NM_001044,p.R615H|ENST00000453492,p.R615H|uc003jck.3,p.R615H	retained_intron, protein_coding	uc003jck.3	nonsynonymous SNV	exon15	c.G1844A	p.R615H	LVDRGEVRQFTLRHWLKV	LVDRGEVRQFTLHHWLKV	4.0	9.0	-	-	4252_5:1394869-1394869 C>T_LVDRGEVRQFTLHHWLKV
11:40135951-40135951 G>T	0.0	4252	COLORECTAL	-	-	-	-	LRRC4C	uc031pzs.1,p.S627Y|ENST00000530763,p.S631Y|NM_001258419,p.S631Y|uc031pzt.1,p.S631Y|uc031pzu.1,p.S631Y|ENST00000527150,p.S631Y|NM_020929,p.S631Y|ENST00000278198,p.S631Y|ENST00000528697,p.S631Y|uc001mxb.2,p.S627Y|uc021qgf.1,p.S631Y	protein_coding, processed_transcript	uc031pzu.1	nonsynonymous SNV	exon5	c.C1892A	p.S631Y	SSVHEPLLIRMNSKDNVQETQI	SSVHEPLLIRMNYKDNVQETQI	3.0	2.0	unscreened	-	4252_11:40135951-40135951 G>T_SSVHEPLLIRMNYKDNVQETQI
7:286393-286393 G>C	0.0	4252	COLORECTAL	-	-	-	-	FAM20C	uc003sip.3,p.E292D|ENST00000313766,p.E292D|NM_020223,p.E292D	retained_intron, protein_coding, processed_transcript	uc003sip.3	nonsynonymous SNV	exon4	c.G876C	p.E292D	GQALFKPMKQTREQETPPDFFYFSD	GQALFKPMKQTRDQETPPDFFYFSD	7.0	6.0	-	-	4252_7:286393-286393 G>C_GQALFKPMKQTRDQETPPDFFYFSD
5:179555468-179555468 A>G	0.0	4252	COLORECTAL	-	-	-	-	RASGEF1C	ENST00000393371,p.L194P|ENST00000361132,p.L194P|NM_175062,p.L194P|ENST00000520209,p.L43P|uc003mlq.3,p.L194P|uc003mlr.3,p.L194P|uc003mlp.4,p.L43P|ENST00000522500,p.L43P	protein_coding, processed_transcript, nonsense_mediated_decay	uc003mlr.3	nonsynonymous SNV	exon5	c.T581C	p.L194P	YRTKPPASIHRELLGVCSDPYTLAQ	YRTKPPASIHREPLGVCSDPYTLAQ	4.0	1.0	unscreened	-	4252_5:179555468-179555468 A>G_YRTKPPASIHREPLGVCSDPYTLAQ
12:88456504-88456504 C>T	1.0	4252	COLORECTAL	-	-	-	-	CEP290	NM_025114,p.A2108T|uc001taq.3,p.A1168T|uc001tar.3,p.A2108T|ENST00000547691,p.A1168T|ENST00000397838,p.A1168T|ENST00000552810,p.A2108T|ENST00000309041,p.A2110T	protein_coding, nonsense_mediated_decay	uc001tar.3	nonsynonymous SNV	exon46	c.G6322A	p.A2108T	LKEMCEFLKKEKAEVQRKLGHVRGS	LKEMCEFLKKEKTEVQRKLGHVRGS	7.0	7.0	-	-	4252_12:88456504-88456504 C>T_LKEMCEFLKKEKTEVQRKLGHVRGS
4:38799362-38799362 A>T	0.0	4252	COLORECTAL	-	-	-	-	TLR1	ENST00000502213,p.V364D|uc003gtl.3,p.V364D|NM_003263,p.V364D|ENST00000308979,p.V364D|uc021xnn.1,p.V364D	protein_coding, processed_transcript	uc021xnn.1	nonsynonymous SNV	exon1	c.T1091A	p.V364D	HLDFSNNLLTDTVFENCGHLTELET	HLDFSNNLLTDTDFENCGHLTELET	6.0	2.0	unscreened	-	4252_4:38799362-38799362 A>T_HLDFSNNLLTDTDFENCGHLTELET
20:57429288-57429288 T>C	0.0	4252	COLORECTAL	-	-	-	1	GNAS	ENST00000306120,p.S260P|NM_001077490,p.S261P	retained_intron, protein_coding, processed_transcript	NM_001077490	nonsynonymous SNV	exon1	c.T781C	p.S261P	LAAPPLGSTTLPSTWTAPQSRLTAR	LAAPPLGSTTLPPTWTAPQSRLTAR	10.0	6.0	-	-	4252_20:57429288-57429288 T>C_LAAPPLGSTTLPPTWTAPQSRLTAR
20:49575822-49575822 T>G	1.0	4252	COLORECTAL	-	-	-	-	MOCS3	NM_014484,p.L148R|uc002xvy.2,p.L148R|ENST00000244051,p.L148R	protein_coding	uc002xvy.2	nonsynonymous SNV	exon1	c.T443G	p.L148R	AKAFSAAASLRRLNSAVECVPYTQA	AKAFSAAASLRRRNSAVECVPYTQA	8.0	4.0	-	-	4252_20:49575822-49575822 T>G_AKAFSAAASLRRRNSAVECVPYTQA
16:66885432-66885432 G>A	0.0	4252	COLORECTAL	-	-	-	-	CA7	uc002eqi.3,p.G142S|ENST00000394069,p.G86S|uc002eqj.3,p.G86S|NM_005182,p.G142S|ENST00000338437,p.G142S|NM_001014435,p.G86S	protein_coding, nonsense_mediated_decay	uc002eqj.3	nonsynonymous SNV	exon4	c.G256A	p.G86S	YSTFGEAASAPDGLAVVGVFLETGD	YSTFGEAASAPDSLAVVGVFLETGD	4.0	9.0	-	-	4252_16:66885432-66885432 G>A_YSTFGEAASAPDSLAVVGVFLETGD
22:43607011-43607011 T>G	0.0	4252	COLORECTAL	-	-	-	-	SCUBE1	ENST00000360835,p.E767A|uc003bdt.2,p.E767A|NM_173050,p.E767A	protein_coding, processed_transcript	uc003bdt.2	nonsynonymous SNV	exon18	c.A2300C	p.E767A	RCIRCPVGTYQPEFGQNHCITCPGN	RCIRCPVGTYQPAFGQNHCITCPGN	3.0	2.0	unscreened	-	4252_22:43607011-43607011 T>G_RCIRCPVGTYQPAFGQNHCITCPGN
1:241146395-241146395 T>G	0.0	4252	COLORECTAL	-	-	-	2	RGS7	ENST00000366564,p.L70F|uc010pyh.2,p.L44F|ENST00000366565,p.L70F|ENST00000407727,p.L70F|NM_001282775,p.L70F|ENST00000366563,p.L70F|ENST00000331110,p.L44F|uc001hyv.2,p.L70F|uc001hyw.2,p.L70F|NM_002924,p.L70F|NM_001282778,p.L70F|uc001hyu.2,p.L70F|ENST00000366562,p.L70F	protein_coding	uc010pyh.2	nonsynonymous SNV	exon4	c.A132C	p.L44F	SGSDIVQWLIKNLTIEDPVEALHLG	SGSDIVQWLIKNFTIEDPVEALHLG	2.0	4.0	unscreened	-	4252_1:241146395-241146395 T>G_SGSDIVQWLIKNFTIEDPVEALHLG
1:178489956-178489956 ->A	0.0	4252	COLORECTAL	-	-	-	-	TEX35	uc001glu.1,p.Q164fs|ENST00000367641,p.Q164fs	protein_coding, nonsense_mediated_decay	uc001glu.1	frameshift insertion	exon7	c.491dupA	p.Q164fs	APCALHKKTMAPQKTKQGSLDPLHH	APCALHKKTMAPQKNKTGLTGSPSSLWDLLRK	3.0	8.0	unscreened	-	4252_1:178489956-178489956 ->A_APCALHKKTMAPQKNKTGLTGSPSSLWDLLRK
6:55304338-55304338 T>A	0.0	4252	COLORECTAL	-	-	-	-	HMGCLL1	NM_001287741,p.D240V|NM_001287746,p.D173V|ENST00000398661,p.D302V|uc010jzx.3,p.D173V|uc011dxc.2,p.D240V|uc003pco.3,p.D272V|ENST00000274901,p.D272V|NM_019036,p.D302V|uc011dxd.2,p.D169V|ENST00000308161,p.D240V|NM_001042406,p.D272V|uc003pcn.3,p.D302V|ENST00000370850,p.D169V|NM_001287753,p.D169V	protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxd.2	nonsynonymous SNV	exon5	c.A506T	p.D169V	ILTALQMGINVVDSAVSGLGGCPYA	ILTALQMGINVVVSAVSGLGGCPYA	3.0	1.0	unscreened	-	4252_6:55304338-55304338 T>A_ILTALQMGINVVVSAVSGLGGCPYA
3:88040609-88040609 G>A	1.0	4252	COLORECTAL	-	-	-	-	HTR1F	uc003dqr.2,p.S237N|ENST00000319595,p.S237N|NM_000866,p.S237N|uc021xbd.1,p.S237N	protein_coding	uc021xbd.1	nonsynonymous SNV	exon1	c.G710A	p.S237N	VNGQVLLESGEKSTKSVSTSYVLEK	VNGQVLLESGEKNTKSVSTSYVLEK	4.0	9.0	-	-	4252_3:88040609-88040609 G>A_VNGQVLLESGEKNTKSVSTSYVLEK
6:17800196-17800196 T>G	0.0	4252	COLORECTAL	-	-	-	-	KIF13A	ENST00000378826,p.K868T|ENST00000378843,p.K868T|uc003nci.4,p.K868T|ENST00000378814,p.K868T|ENST00000259711,p.K868T|NM_001105566,p.K868T|NM_022113,p.K868T|NM_001105567,p.K868T|uc003ncf.3,p.K868T|uc003nch.4,p.K868T|NM_001105568,p.K868T|uc003ncg.4,p.K868T|ENST00000378816,p.K868T	retained_intron, protein_coding, processed_transcript	uc003nci.4	nonsynonymous SNV	exon21	c.A2603C	p.K868T	VDSSGEIIHRVKKLTCRVKIKEATG	VDSSGEIIHRVKTLTCRVKIKEATG	6.0	2.0	unscreened	-	4252_6:17800196-17800196 T>G_VDSSGEIIHRVKTLTCRVKIKEATG
3:14799129-14799129 T>C	0.0	4252	COLORECTAL	-	-	-	-	C3orf20	uc011avj.2,p.L58P|uc003byz.3,p.L609P|NM_032137,p.L731P|ENST00000435614,p.L609P|NM_001184957,p.L609P|uc003bzb.1,p.L232P|uc003bza.3,p.L609P|uc003byy.3,p.L731P|NM_001184958,p.L609P|ENST00000412910,p.L609P|ENST00000253697,p.L731P	protein_coding, processed_transcript	uc011avj.2	nonsynonymous SNV	exon1	c.T173C	p.L58P	QNYTSTGQLQWLLNTLYNHQQRGRG	QNYTSTGQLQWLPNTLYNHQQRGRG	1.0	3.0	unscreened	-	4252_3:14799129-14799129 T>C_QNYTSTGQLQWLPNTLYNHQQRGRG
19:11577505-11577505 G>C	0.0	4252	COLORECTAL	-	-	-	-	ELAVL3	ENST00000588853,p.N49K|ENST00000438662,p.N49K|NM_032281,p.N49K|uc002mrx.1,p.N49K|NM_001420,p.N49K|ENST00000359227,p.N49K|uc002mry.1,p.N49K	protein_coding, processed_transcript	uc002mry.1	nonsynonymous SNV	exon2	c.C147G	p.N49K	SKTNLIVNYLPQNMTQDEFKSLFGS	SKTNLIVNYLPQKMTQDEFKSLFGS	1.0	2.0	unscreened	-	4252_19:11577505-11577505 G>C_SKTNLIVNYLPQKMTQDEFKSLFGS
19:55494669-55494669 G>A	0.0	4252	COLORECTAL	-	-	ID=COSM295159;OCCURENCE=1(large_intestine)	-	NLRP2	ENST00000391721,p.V511I|NM_001174083,p.V512I|uc010esn.3,p.V511I|NM_017852,p.V535I|NM_001174081,p.V535I|ENST00000537859,p.V513I|ENST00000543010,p.V535I|ENST00000427260,p.V512I|uc010eso.3,p.V532I|uc002qij.3,p.V535I|ENST00000538819,p.V511I|uc021vbq.1,p.V535I|ENST00000339757,p.V513I|NM_001174082,p.V513I|ENST00000263437,p.V532I|uc010yfp.2,p.V512I|uc010esp.3,p.V513I|ENST00000448584,p.V535I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vbq.1	nonsynonymous SNV	exon6	c.G1603A	p.V535I	EDRDGHTWDIGDVQKLLSGVERLRN	EDRDGHTWDIGDIQKLLSGVERLRN	5.0	9.0	-	-	4252_19:55494669-55494669 G>A_EDRDGHTWDIGDIQKLLSGVERLRN
1:39976857-39976857 C>T	0.0	4252	COLORECTAL	-	-	-	-	BMP8A	uc001cdi.3,p.R116C|ENST00000331593,p.R116C|NM_181809,p.R116C	protein_coding	uc001cdi.3	nonsynonymous SNV	exon2	c.C346T	p.R116C	LVMSFVNMVERDRALGHQEPHWKEF	LVMSFVNMVERDCALGHQEPHWKEF	4.0	10.0	-	-	4252_1:39976857-39976857 C>T_LVMSFVNMVERDCALGHQEPHWKEF
6:32796724-32796724 C>T	1.0	4252	COLORECTAL	-	-	-	-	TAP2	uc003occ.3,p.V674M|NM_001290043,p.V674M|ENST00000374897,p.V674M	retained_intron, protein_coding, processed_transcript	uc003occ.3	nonsynonymous SNV	exon11	c.G2020A	p.V674M	RLQTVQRAHQILVLQEGKLQKLAQL	RLQTVQRAHQILMLQEGKLQKLAQL	9.0	6.0	unscreened	-	4252_6:32796724-32796724 C>T_RLQTVQRAHQILMLQEGKLQKLAQL
11:89911156-89911156 C>T	0.0	4252	COLORECTAL	-	-	-	-	NAALAD2	uc009yvx.3,p.L544F|ENST00000534061,p.L577F|NM_001300930,p.L544F|ENST00000321955,p.L544F|uc001pdf.4,p.L577F|NM_005467,p.L577F	retained_intron, protein_coding, nonsense_mediated_decay	uc009yvx.3	nonsynonymous SNV	exon15	c.C1630T	p.L544F	SVAQLRGALVYELVDSKIIPFNIQD	SVAQLRGALVYEFVDSKIIPFNIQD	2.0	7.0	unscreened	-	4252_11:89911156-89911156 C>T_SVAQLRGALVYEFVDSKIIPFNIQD
17:39580446-39580446 G>C	0.0	4252	COLORECTAL	-	-	-	-	KRT37	uc002hwp.1,p.F110L|ENST00000225550,p.F110L|NM_003770,p.F110L	protein_coding	uc002hwp.1	nonsynonymous SNV	exon1	c.C330G	p.F110L	NTLNGHEKETMKFLNDRLANYLEKV	NTLNGHEKETMKLLNDRLANYLEKV	1.0	10.0	unscreened	-	4252_17:39580446-39580446 G>C_NTLNGHEKETMKLLNDRLANYLEKV
6:32796724-32796724 C>T	1.0	4252	COLORECTAL	-	-	-	-	TAP2	uc003ocd.3,p.V674M	retained_intron, protein_coding, processed_transcript	uc003ocd.3	nonsynonymous SNV	exon12	c.G2020A	p.V674M	RLQAVQRAHQILVLQEGKLQKLAQL	RLQAVQRAHQILMLQEGKLQKLAQL	9.0	6.0	-	-	4252_6:32796724-32796724 C>T_RLQAVQRAHQILMLQEGKLQKLAQL
2:108622632-108622632 T>G	0.0	4252	COLORECTAL	-	-	-	-	SLC5A7	uc010ywm.2,p.L43R|ENST00000409059,p.L290R|NM_021815,p.L290R|ENST00000264047,p.L290R|uc010ywn.2,p.L177R|uc010fjj.3,p.L290R|ENST00000540517,p.L185R|uc002tdv.3,p.L290R	protein_coding	uc010ywn.2	nonsynonymous SNV	exon6	c.T530G	p.L177R	AFGCLVMAIPAILIGAIGASTDWNQ	AFGCLVMAIPAIRIGAIGASTDWNQ	1.0	7.0	unscreened	-	4252_2:108622632-108622632 T>G_AFGCLVMAIPAIRIGAIGASTDWNQ
5:126113256-126113256 C>G	0.0	4252	COLORECTAL	-	-	-	-	LMNB1	uc003kud.2,p.T19S|NM_005573,p.T19S|ENST00000395354,p.T19S|ENST00000261366,p.T19S	retained_intron, protein_coding, processed_transcript	uc003kud.2	nonsynonymous SNV	exon1	c.C56G	p.T19S	VPPRMGSRAGGPTTPLSPTRLSRLQ	VPPRMGSRAGGPSTPLSPTRLSRLQ	9.0	3.0	unscreened	-	4252_5:126113256-126113256 C>G_VPPRMGSRAGGPSTPLSPTRLSRLQ
1:185120984-185120984 A>G	0.0	4252	COLORECTAL	-	-	-	-	TRMT1L	uc001grf.4,p.S107P|NM_030934,p.S107P|ENST00000367506,p.S107P	protein_coding, processed_transcript	uc001grf.4	nonsynonymous SNV	exon2	c.T319C	p.S107P	AFVTDGNFDSASSLNSDNLDAGNRQ	AFVTDGNFDSASPLNSDNLDAGNRQ	7.0	5.0	unscreened	-	4252_1:185120984-185120984 A>G_AFVTDGNFDSASPLNSDNLDAGNRQ
11:77850619-77850619 T>C	1.0	4252	COLORECTAL	-	-	-	-	ALG8	NM_024079,p.I6V|uc001oza.1,p.I6V|NM_001007027,p.I6V|uc001oyz.1,p.I6V|ENST00000530454,p.I6V|ENST00000299626,p.I6V|ENST00000376156,p.I6V|ENST00000532050,p.I6V|ENST00000526737,p.I6V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001oza.1	nonsynonymous SNV	exon1	c.A16G	p.I6V	MAALTIATGTGNWFSALA	MAALTVATGTGNWFSALA	10.0	7.0	-	-	4252_11:77850619-77850619 T>C_MAALTVATGTGNWFSALA
19:14029573-14029573 G>A	1.0	4252	COLORECTAL	-	-	-	-	CC2D1A	ENST00000318003,p.D321N|uc002mxn.2,p.D220N|NM_017721,p.D321N|ENST00000589606,p.D321N|uc002mxp.2,p.D321N|uc002mxo.2,p.D321N	retained_intron, protein_coding, nonsense_mediated_decay	uc002mxp.2	nonsynonymous SNV	exon9	c.G961A	p.D321N	SCLPPPPDQLPPDPPSPPSQPPTPA	SCLPPPPDQLPPNPPSPPSQPPTPA	10.0	10.0	-	-	4252_19:14029573-14029573 G>A_SCLPPPPDQLPPNPPSPPSQPPTPA
6:32037930-32037930 C>A	0.0	4252	COLORECTAL	-	-	-	-	TNXB	NM_019105,p.G1751V|ENST00000375244,p.G1751V|uc003nzl.2,p.G1751V|ENST00000375247,p.G1751V	retained_intron, protein_coding	uc003nzl.2	nonsynonymous SNV	exon14	c.G5252T	p.G1751V	FLLYGLLGKKRHGPLTADGTTEARS	FLLYGLLGKKRHVPLTADGTTEARS	7.0	10.0	-	-	4252_6:32037930-32037930 C>A_FLLYGLLGKKRHVPLTADGTTEARS
17:51901863-51901863 C>T	0.0	4252	COLORECTAL	-	-	-	-	KIF2B	ENST00000268919,p.P490L|uc002iua.2,p.P490L|NM_032559,p.P490L	protein_coding	uc002iua.2	nonsynonymous SNV	exon1	c.C1469T	p.P490L	LKECILALGQNKPHTPFRASKLTLV	LKECILALGQNKLHTPFRASKLTLV	1.0	1.0	unscreened	-	4252_17:51901863-51901863 C>T_LKECILALGQNKLHTPFRASKLTLV
13:97484857-97484857 G>C	0.0	4252	COLORECTAL	-	-	-	-	HS6ST3	ENST00000376705,p.R274T|NM_153456,p.R274T|uc001vmw.4,p.R274T	protein_coding	uc001vmw.4	nonsynonymous SNV	exon2	c.G821C	p.R274T	ATWKTSLHMCDGRSPTPDELPTCYP	ATWKTSLHMCDGTSPTPDELPTCYP	1.0	2.0	unscreened	-	4252_13:97484857-97484857 G>C_ATWKTSLHMCDGTSPTPDELPTCYP
8:104145449-104145449 C>T	0.0	4252	COLORECTAL	-	-	-	-	BAALC-AS2	ENST00000436771,p.A42T|ENST00000521246,p.A42T|uc011lhm.2,p.A42T	protein_coding	uc011lhm.2	nonsynonymous SNV	exon2	c.G124A	p.A42T	EAPLLSSFLPPLASEAELTGNTWFL	EAPLLSSFLPPLTSEAELTGNTWFL	1.0	4.0	unscreened	-	4252_8:104145449-104145449 C>T_EAPLLSSFLPPLTSEAELTGNTWFL
2:49295364-49295364 T>C	0.0	4252	COLORECTAL	-	-	-	-	FSHR	ENST00000454032,p.E73G|uc002rwx.3,p.E73G|NM_181446,p.E73G|uc010fbn.3,p.E73G|NM_000145,p.E73G|ENST00000304421,p.E73G|ENST00000419927,p.E73G|ENST00000406846,p.E73G|ENST00000346173,p.E73G|uc002rww.3,p.E73G	protein_coding, processed_transcript, nonsense_mediated_decay	uc010fbn.3	nonsynonymous SNV	exon2	c.A218G	p.E73G	IQKGAFSGFGDLEKIEISQNDVLEV	IQKGAFSGFGDLGKIEISQNDVLEV	1.0	2.0	unscreened	-	4252_2:49295364-49295364 T>C_IQKGAFSGFGDLGKIEISQNDVLEV
2:239757179-239757179 A>G	0.0	4252	COLORECTAL	-	-	-	-	TWIST2	ENST00000448943,p.K108R|NM_057179,p.K108R|uc021vyw.2,p.K108R|NM_001271893,p.K108R|uc010znx.2,p.K108R	protein_coding	uc021vyw.2	nonsynonymous SNV	exon1	c.A323G	p.K108R	LPSDKLSKIQTLKLAARYIDFLYQV	LPSDKLSKIQTLRLAARYIDFLYQV	4.0	3.0	unscreened	-	4252_2:239757179-239757179 A>G_LPSDKLSKIQTLRLAARYIDFLYQV
2:26534092-26534092 C>A	0.0	4252	COLORECTAL	-	-	-	-	GPR113	NM_001145168,p.G835V|uc002rhe.4,p.G835V|ENST00000447444,p.G636V|uc002rhc.1,p.G438V|uc010yky.1,p.G766V|ENST00000421160,p.G766V|uc010eyk.1,p.G636V|NM_001145169,p.G766V|ENST00000541401,p.G438V|ENST00000311519,p.G835V|ENST00000333478,p.G636V|NM_153835,p.G636V|uc002rhb.1,p.G438V	protein_coding, processed_transcript, nonsense_mediated_decay	uc010yky.1	nonsynonymous SNV	exon10	c.G2297T	p.G766V	DTCFLGAPFLSPGPRSPLCLAAAFL	DTCFLGAPFLSPVPRSPLCLAAAFL	3.0	4.0	unscreened	-	4252_2:26534092-26534092 C>A_DTCFLGAPFLSPVPRSPLCLAAAFL
15:83932605-83932605 T>G	0.0	4252	COLORECTAL	-	-	-	-	BNC1	uc002bjt.1,p.Q466H|NM_001301206,p.Q459H|ENST00000569704,p.Q459H|ENST00000345382,p.Q466H|uc010uos.1,p.Q454H|NM_001717,p.Q466H	protein_coding	uc010uos.1	nonsynonymous SNV	exon4	c.A1362C	p.Q454H	PSYPGSGEDSKGQPAFPNIGQNGVL	PSYPGSGEDSKGHPAFPNIGQNGVL	1.0	1.0	unscreened	-	4252_15:83932605-83932605 T>G_PSYPGSGEDSKGHPAFPNIGQNGVL
X:99551676-99551676 C>T	0.0	4252	COLORECTAL	-	-	-	-	PCDH19	NM_001105243,p.A969T|ENST00000420881,p.A968T|ENST00000255531,p.A969T|NM_020766,p.A968T|uc004efw.4,p.A968T|ENST00000373034,p.A1016T|NM_001184880,p.A1016T|uc010nmz.3,p.A1016T|uc004efx.4,p.A969T	protein_coding, processed_transcript	uc010nmz.3	nonsynonymous SNV	exon6	c.G3046A	p.A1016T	AYDDCGPTKRTFATFGKDVSDHPAE	AYDDCGPTKRTFTTFGKDVSDHPAE	3.0	10.0	-	-	4252_X:99551676-99551676 C>T_AYDDCGPTKRTFTTFGKDVSDHPAE
9:104357086-104357086 C>T	0.0	4252	COLORECTAL	-	-	ID=COSM1496923;OCCURENCE=1(kidney)	-	PPP3R2	ENST00000374806,p.V43M|uc004bbr.3,p.V43M|NM_147180,p.V43M	protein_coding	uc004bbr.3	nonsynonymous SNV	exon1	c.G127A	p.V43M	KKLDLDKSGSLSVEEFMSLPELRHN	KKLDLDKSGSLSMEEFMSLPELRHN	1.0	9.0	unscreened	-	4252_9:104357086-104357086 C>T_KKLDLDKSGSLSMEEFMSLPELRHN
16:31488245-31488245 ->GCTGCCAGG	1.0	4252	COLORECTAL	-	-	-	-	TGFB1I1	NM_015927,p.R328delinsRCQG|uc002ece.2,p.R328delinsRCQG|ENST00000567607,p.R328delinsRCQG|uc002ecd.2,p.R345delinsRCQG|ENST00000394863,p.R345delinsRCQG|uc021tgx.1,p.R328delinsRCQG|NM_001164719,p.R328delinsRCQG|ENST00000394858,p.R328delinsRCQG|ENST00000361773,p.R328delinsRCQG|NM_001042454,p.R345delinsRCQG	retained_intron, protein_coding, nonsense_mediated_decay	uc021tgx.1	nonframeshift insertion	exon10	c.982_983insGCTGCCAGG	p.R328delinsRCQG	YCRRDFLQLFAPRCQGCQGPILDNY	YCRRDFLQLFAPRCQGCQGCQGPIL	8.0	4.0	-	-	4252_16:31488245-31488245 ->GCTGCCAGG_YCRRDFLQLFAPRCQGCQGCQGPIL
1:110153092-110153092 C>G	0.0	4252	COLORECTAL	-	-	-	-	GNAT2	ENST00000351050,p.Q52H|uc001dya.3,p.Q52H|NM_005272,p.Q52H	protein_coding	uc001dya.3	nonsynonymous SNV	exon2	c.G156C	p.Q52H	GAGESGKSTIVKQMKIIHQDGYSPE	GAGESGKSTIVKHMKIIHQDGYSPE	3.0	10.0	-	-	4252_1:110153092-110153092 C>G_GAGESGKSTIVKHMKIIHQDGYSPE
3:63594946-63594946 G>T	0.0	4252	COLORECTAL	-	-	-	-	SYNPR	ENST00000479198,p.C165F|uc003dlq.3,p.C165F|ENST00000460711,p.C176F|ENST00000295894,p.C165F|uc003dlp.3,p.C185F|NM_001130003,p.C185F|uc010hnt.3,p.C174F|NM_144642,p.C165F|ENST00000478300,p.C185F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010hnt.3	nonsynonymous SNV	exon5	c.G521T	p.C174F	LLMSACKQPSNKCMAIHSPVMSSLN	LLMSACKQPSNKFMAIHSPVMSSLN	2.0	5.0	unscreened	-	4252_3:63594946-63594946 G>T_LLMSACKQPSNKFMAIHSPVMSSLN
8:57354035-57354035 T>G	0.0	4252	COLORECTAL	-	-	-	-	PENK	uc003xsz.2,p.E200D|ENST00000314922,p.E200D|NM_006211,p.E200D|NM_001135690,p.E200D|uc003xta.3,p.E200D|ENST00000451791,p.E200D	retained_intron, protein_coding, processed_transcript	uc003xta.3	nonsynonymous SNV	exon4	c.A600C	p.E200D	GFMRGLKRSPQLEDEAKELQKRYGG	GFMRGLKRSPQLDDEAKELQKRYGG	3.0	1.0	unscreened	-	4252_8:57354035-57354035 T>G_GFMRGLKRSPQLDDEAKELQKRYGG
14:20483093-20483093 A>C	0.0	4252	COLORECTAL	-	-	-	-	OR4K14	ENST00000305045,p.L87R|uc010tky.2,p.L87R|NM_001004712,p.L87R	protein_coding	uc010tky.2	nonsynonymous SNV	exon1	c.T260G	p.L87R	ASFATPKMIRDFLSDQKLISFGGCM	ASFATPKMIRDFRSDQKLISFGGCM	1.0	4.0	unscreened	-	4252_14:20483093-20483093 A>C_ASFATPKMIRDFRSDQKLISFGGCM
19:8999060-8999060 C>A	0.0	4252	COLORECTAL	-	-	-	2	MUC16	NM_024690,p.G13595V|uc002mkp.3,p.G13595V|ENST00000380951,p.G236V|uc010dwj.3,p.G412V|ENST00000397910,p.G13595V	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dwj.3	nonsynonymous SNV	exon14	c.G1235T	p.G412V	PYTLDRDSLYVNGFTQRSSVPTTSI	PYTLDRDSLYVNVFTQRSSVPTTSI	3.0	9.0	unscreened	-	4252_19:8999060-8999060 C>A_PYTLDRDSLYVNVFTQRSSVPTTSI
12:52865511-52865511 T>A	0.0	4252	COLORECTAL	-	-	-	-	KRT6C	uc001sal.4,p.E254V|NM_173086,p.E254V|ENST00000252250,p.E254V	retained_intron, protein_coding	uc001sal.4	nonsynonymous SNV	exon3	c.A761T	p.E254V	MQDLVEDLKNKYEDEINKRTAAENE	MQDLVEDLKNKYVDEINKRTAAENE	2.0	8.0	unscreened	-	4252_12:52865511-52865511 T>A_MQDLVEDLKNKYVDEINKRTAAENE
14:34243579-34243579 T>A	0.0	4252	COLORECTAL	-	-	-	-	NPAS3	NM_022123,p.S265T|ENST00000357798,p.S284T|NM_173159,p.S284T|ENST00000551634,p.S274T|ENST00000551492,p.S302T|NM_001165893,p.S267T|uc001wru.3,p.S297T|ENST00000356141,p.S297T|ENST00000346562,p.S265T|ENST00000548645,p.S267T|NM_001164749,p.S297T|uc001wrv.3,p.S267T|uc001wrt.3,p.S265T|uc001wrs.3,p.S284T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wrv.3	nonsynonymous SNV	exon7	c.T799A	p.S267T	VIHITGRLRLRVSLSHGRTVPSQIM	VIHITGRLRLRVTLSHGRTVPSQIM	1.0	10.0	unscreened	-	4252_14:34243579-34243579 T>A_VIHITGRLRLRVTLSHGRTVPSQIM
17:526792-526792 G>C	1.0	4252	COLORECTAL	-	-	-	-	VPS53	ENST00000571805,p.T366S|uc002fro.2,p.T168S|ENST00000437048,p.T366S|uc010cjo.2,p.T366S|uc002frm.2,p.T337S|ENST00000570650,p.T137S|NM_001128159,p.T366S|ENST00000291074,p.T337S|ENST00000389040,p.T318S|uc002frn.2,p.T366S|ENST00000446250,p.T168S|NM_018289,p.T337S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cjo.2	nonsynonymous SNV	exon11	c.C1097G	p.T366S	FEGFLAKRFSGCTLTDGTLKKLESP	FEGFLAKRFSGCSLTDGTLKKLESP	8.0	5.0	-	-	4252_17:526792-526792 G>C_FEGFLAKRFSGCSLTDGTLKKLESP
1:193028793-193028793 C>G	1.0	4252	COLORECTAL	-	-	-	-	TROVE2	ENST00000417752,p.Q112H	protein_coding, processed_transcript	ENST00000417752	nonsynonymous SNV	exon1	c.G336C	p.Q112H	RRQPDGQRQPQQQQQPHCRRGFQAP	RRQPDGQRQPQQHQQPHCRRGFQAP	9.0	9.0	unscreened	-	4252_1:193028793-193028793 C>G_RRQPDGQRQPQQHQQPHCRRGFQAP
3:13612535-13612535 G>C	0.0	4252	COLORECTAL	-	-	-	2	FBLN2	uc011ava.2,p.G227A|ENST00000295760,p.G227A|ENST00000492059,p.G227A|NM_001004019,p.G227A|ENST00000535798,p.G253A|uc011avc.2,p.G227A|uc011avb.2,p.G227A|NM_001165035,p.G227A|NM_001998,p.G227A|ENST00000404922,p.G227A|uc011auz.2,p.G253A	retained_intron, protein_coding	uc011avc.2	nonsynonymous SNV	exon2	c.G680C	p.G227A	EVQAGAVQAGAGGPPAALGGGSQPL	EVQAGAVQAGAGAPPAALGGGSQPL	8.0	6.0	-	-	4252_3:13612535-13612535 G>C_EVQAGAVQAGAGAPPAALGGGSQPL
9:130570976-130570976 A>G	1.0	4252	COLORECTAL	-	-	-	-	FPGS	NM_004957,p.D321G|ENST00000373225,p.D271G|uc004bsh.1,p.D138G|NM_001288803,p.D295G|ENST00000393706,p.D295G|NM_001018078,p.D271G|uc004bsi.1,p.D271G|ENST00000373247,p.D321G|uc004bsg.1,p.D321G|uc011mal.1,p.D295G	protein_coding, processed_transcript	uc011mal.1	nonsynonymous SNV	exon9	c.A884G	p.D295G	ALQLAHCWLQRQDRHGAGEPKASRP	ALQLAHCWLQRQGRHGAGEPKASRP	10.0	1.0	-	-	4252_9:130570976-130570976 A>G_ALQLAHCWLQRQGRHGAGEPKASRP
1:193028793-193028793 C>G	1.0	4252	COLORECTAL	-	-	-	-	TROVE2	uc001gsr.1,p.Q112H	protein_coding, processed_transcript	uc001gsr.1	nonsynonymous SNV	exon1	c.G336C	p.Q112H	RRQPDGQRQPQQQQQPHCRRGFQVR	RRQPDGQRQPQQHQQPHCRRGFQVR	9.0	9.0	unscreened	-	4252_1:193028793-193028793 C>G_RRQPDGQRQPQQHQQPHCRRGFQVR
15:84527554-84527554 G>A	0.0	4252	COLORECTAL	-	-	-	-	ADAMTSL3	uc002bjy.1,p.R255Q|ENST00000286744,p.R255Q|uc010bmt.1,p.R255Q|NM_001301110,p.R255Q|NM_207517,p.R255Q|ENST00000567476,p.R255Q|uc002bjz.4,p.R255Q	retained_intron, protein_coding, processed_transcript	uc010bmt.1	nonsynonymous SNV	exon8	c.G764A	p.R255Q	REENVIAVPLGSRSVRITVKGPAHL	REENVIAVPLGSQSVRITVKGPAHL	4.0	10.0	-	-	4252_15:84527554-84527554 G>A_REENVIAVPLGSQSVRITVKGPAHL
10:108357163-108357163 A>C	0.0	4252	COLORECTAL	-	-	-	-	SORCS1	uc001kyl.3,p.F1071V|NM_052918,p.F1071V|uc021pxw.1,p.F1071V|ENST00000369698,p.F606V|uc001kyn.2,p.F1071V|uc001kym.3,p.F1071V|uc009xxs.3,p.F1071V|NM_001206571,p.F1071V|NM_001206569,p.F1071V|ENST00000344440,p.F1071V|NM_001206572,p.F1071V|uc001kyo.3,p.F1071V|ENST00000263054,p.F1071V|NM_001013031,p.F1071V|NM_001206570,p.F1071V	protein_coding, processed_transcript	uc021pxw.1	nonsynonymous SNV	exon24	c.T3211G	p.F1071V	LLIHTLNQNSVHFELKPGVRVLVHA	LLIHTLNQNSVHVELKPGVRVLVHA	1.0	1.0	unscreened	-	4252_10:108357163-108357163 A>C_LLIHTLNQNSVHVELKPGVRVLVHA
4:25032262-25032264 CAG>-	0.0	4252	COLORECTAL	-	-	-	-	LGI2	uc003grf.2,p.18_18del|NM_018176,p.18_18del|ENST00000382114,p.18_18del	protein_coding	uc003grf.2	nonframeshift deletion	exon1	c.52_54del	p.18_18del	GGCGALGLLLLLLGAACLIPRSAQV	GGCGALGLLLLLGAACLIPRSAQVR	5.0	1.0	unscreened	-	4252_4:25032262-25032264 CAG>-_GGCGALGLLLLLGAACLIPRSAQVR
6:100395774-100395774 T>C	0.0	4252	COLORECTAL	-	-	-	-	MCHR2	NM_001040179,p.M86V|ENST00000281806,p.M86V|uc003pqh.1,p.M86V|ENST00000445970,p.M86V|ENST00000369212,p.M86V|NM_032503,p.M86V|uc003pqi.1,p.M86V	protein_coding	uc003pqi.1	nonsynonymous SNV	exon3	c.A256G	p.M86V	NLAVADLVHIVGMPFLIHQWARGGE	NLAVADLVHIVGVPFLIHQWARGGE	1.0	7.0	unscreened	-	4252_6:100395774-100395774 T>C_NLAVADLVHIVGVPFLIHQWARGGE
20:37529232-37529232 A>C	0.0	4252	COLORECTAL	-	-	-	-	PPP1R16B	ENST00000299824,p.D159A|ENST00000373331,p.D159A|uc010ggc.3,p.D159A|NM_015568,p.D159A|uc002xje.3,p.D159A|NM_001172735,p.D159A	protein_coding, processed_transcript	uc010ggc.3	nonsynonymous SNV	exon5	c.A476C	p.D159A	INLVKILVQYGADLLAVNSDGNMPY	INLVKILVQYGAALLAVNSDGNMPY	5.0	2.0	unscreened	-	4252_20:37529232-37529232 A>C_INLVKILVQYGAALLAVNSDGNMPY
7:72395751-72395751 C>T	0.0	4252	COLORECTAL	-	-	-	-	POM121	uc003twk.2,p.P31L|ENST00000434423,p.P31L	protein_coding	uc003twk.2	nonsynonymous SNV	exon1	c.C92T	p.P31L	SVRDGRGRGCGGPARAVLLGLSLVG	SVRDGRGRGCGGLARAVLLGLSLVG	8.0	5.0	unscreened	-	4252_7:72395751-72395751 C>T_SVRDGRGRGCGGLARAVLLGLSLVG
8:39466605-39466605 C>T	0.0	4252	COLORECTAL	-	-	-	-	ADAM18	uc003xnh.3,p.T78I|uc010lwx.3,p.T78I|NM_014237,p.T78I|ENST00000379866,p.T78I|NM_001190956,p.T78I|ENST00000520087,p.T78I|ENST00000520772,p.T78I|uc003xni.3,p.T78I|ENST00000265707,p.T78I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lwx.3	nonsynonymous SNV	exon4	c.C233T	p.T78I	LPQNFLVYTYNETGSLHSVSPYFMM	LPQNFLVYTYNEIGSLHSVSPYFMM	3.0	6.0	unscreened	-	4252_8:39466605-39466605 C>T_LPQNFLVYTYNEIGSLHSVSPYFMM
3:195518300-195518300 T>G	0.0	4252	COLORECTAL	-	-	-	2	MUC4	ENST00000479406,p.T51P|ENST00000463781,p.T51P|ENST00000470451,p.T51P|ENST00000480843,p.T51P|ENST00000478156,p.T51P|ENST00000466475,p.T51P|ENST00000462323,p.T51P|ENST00000477756,p.T51P|ENST00000477086,p.T51P|ENST00000475231,p.T51P|uc021xjp.1,p.T51P|NM_018406,p.T51P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.A151C	p.T51P	KTAAPVTSTGSTTATLEGQSTAASS	KTAAPVTSTGSTPATLEGQSTAASS	6.0	3.0	unscreened	-	4252_3:195518300-195518300 T>G_KTAAPVTSTGSTPATLEGQSTAASS
15:91017337-91017337 C>G	1.0	4252	COLORECTAL	-	-	-	-	IQGAP1	ENST00000560738,p.N277K|uc002bpl.1,p.N849K|NM_003870,p.N849K|ENST00000268182,p.N849K	retained_intron, protein_coding, processed_transcript	uc002bpl.1	nonsynonymous SNV	exon22	c.C2547G	p.N849K	NDIIKIQAFIRANKARDDYKTLINA	NDIIKIQAFIRAKKARDDYKTLINA	10.0	2.0	-	-	4252_15:91017337-91017337 C>G_NDIIKIQAFIRAKKARDDYKTLINA
9:17789495-17789495 G>C	0.0	4252	COLORECTAL	-	-	-	-	SH3GL2	ENST00000380607,p.D191H|ENST00000537391,p.D144H|uc003zna.3,p.D191H|uc011lmx.1,p.D156H|uc011lmy.2,p.D144H|NM_003026,p.D191H	protein_coding, processed_transcript	uc011lmy.2	nonsynonymous SNV	exon7	c.G430C	p.D144H	PDEELRQALEKFDESKEIAESSMFN	PDEELRQALEKFHESKEIAESSMFN	2.0	1.0	unscreened	-	4252_9:17789495-17789495 G>C_PDEELRQALEKFHESKEIAESSMFN
12:48921783-48921783 G>T	0.0	4252	COLORECTAL	-	-	-	-	OR8S1	ENST00000310194,p.R326L|NM_001005203,p.R326L|uc010slu.2,p.R326L	protein_coding, processed_transcript	uc010slu.2	nonsynonymous SNV	exon2	c.G977T	p.R326L	QARWKRPAFTEGRREPGHPELSIPV	QARWKRPAFTEGLREPGHPELSIPV	1.0	9.0	unscreened	-	4252_12:48921783-48921783 G>T_QARWKRPAFTEGLREPGHPELSIPV
22:17585700-17585700 G>A	0.0	4252	COLORECTAL	-	-	-	-	IL17RA	NM_001289905,p.E311K	retained_intron, protein_coding, processed_transcript	NM_001289905	nonsynonymous SNV	exon9	c.G931A	p.E311K	ATVSCPEMPDTPEPIPGPGSEKYSD	ATVSCPEMPDTPKPIPGPGSEKYSD	7.0	6.0	unscreened	-	4252_22:17585700-17585700 G>A_ATVSCPEMPDTPKPIPGPGSEKYSD
3:195510707-195510707 T>G	0.0	4252	COLORECTAL	-	-	-	2	MUC4	ENST00000477086,p.T2582P|ENST00000470451,p.T2582P|ENST00000466475,p.T2582P|uc021xjp.1,p.T2582P|ENST00000463781,p.T2582P|ENST00000477756,p.T2582P|NM_018406,p.T2582P|ENST00000475231,p.T2582P|ENST00000462323,p.T2582P|ENST00000480843,p.T2582P|ENST00000478156,p.T2582P|ENST00000479406,p.T2582P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.A7744C	p.T2582P	STGHATPLPVTSTSSASTGDTTPLP	STGHATPLPVTSPSSASTGDTTPLP	6.0	4.0	unscreened	-	4252_3:195510707-195510707 T>G_STGHATPLPVTSPSSASTGDTTPLP
5:23526756-23526756 G>T	0.0	4252	COLORECTAL	-	-	-	-	PRDM9	ENST00000296682,p.R520I|NM_020227,p.R520I|uc003jgo.3,p.R520I	protein_coding	uc003jgo.3	nonsynonymous SNV	exon11	c.G1559T	p.R520I	NTGKLFVGVGISRIAKVKYGECGQG	NTGKLFVGVGISIIAKVKYGECGQG	1.0	3.0	unscreened	-	4252_5:23526756-23526756 G>T_NTGKLFVGVGISIIAKVKYGECGQG
12:21033836-21033836 A>T	0.0	4252	COLORECTAL	-	-	-	-	SLCO1B3	ENST00000544370,p.N284I|NM_019844,p.N460I|ENST00000381545,p.N460I|ENST00000553473,p.N460I|ENST00000261196,p.N460I|ENST00000540229,p.N460I|uc010sil.2,p.N460I|uc001rel.4,p.N460I	protein_coding, nonsense_mediated_decay	uc010sil.2	nonsynonymous SNV	exon10	c.A1379T	p.N460I	VASHVDVPLSYCNSECNCDESQWEP	VASHVDVPLSYCISECNCDESQWEP	2.0	2.0	unscreened	-	4252_12:21033836-21033836 A>T_VASHVDVPLSYCISECNCDESQWEP
3:42917203-42917203 C>T	0.0	4252	COLORECTAL	-	-	-	-	CYP8B1	ENST00000437102,p.D36N|ENST00000316161,p.D36N|uc003cmh.3,p.D36N|NM_004391,p.D36N	protein_coding	uc003cmh.3	nonsynonymous SNV	exon1	c.G106A	p.D36N	MLRQRRPWEPPLDKGTVPWLGHAMA	MLRQRRPWEPPLNKGTVPWLGHAMA	1.0	9.0	unscreened	-	4252_3:42917203-42917203 C>T_MLRQRRPWEPPLNKGTVPWLGHAMA
6:166721479-166721479 G>A	0.0	4252	COLORECTAL	-	-	-	-	PRR18	uc003quw.1,p.A51V|ENST00000322583,p.A51V|ENST00000529616,p.A51V|NM_175922,p.A51V	protein_coding	uc003quw.1	nonsynonymous SNV	exon1	c.C152T	p.A51V	RPEGLLSSSWPSATLKRPPARRGPG	RPEGLLSSSWPSVTLKRPPARRGPG	3.0	7.0	-	-	4252_6:166721479-166721479 G>A_RPEGLLSSSWPSVTLKRPPARRGPG
7:72412591-72412591 G>A	0.0	4252	COLORECTAL	-	rs201184041	-	-	POM121	ENST00000358357,p.A422T|uc031sxs.1,p.A422T|ENST00000395270,p.A422T|uc003twk.2,p.A687T|uc010lam.1,p.A422T|NM_001257190,p.A422T|NM_172020,p.A422T|ENST00000446813,p.A422T|ENST00000257622,p.A422T|ENST00000434423,p.A687T	protein_coding	uc031sxs.1	nonsynonymous SNV	exon11	c.G1264A	p.A422T	DTKAPPTLQAETATKPQATSAPSPA	DTKAPPTLQAETTTKPQATSAPSPA	8.0	1.0	unscreened	-	4252_7:72412591-72412591 G>A_DTKAPPTLQAETTTKPQATSAPSPA
6:116542343-116542343 C>G	0.0	4252	COLORECTAL	-	-	-	-	NT5DC1	uc003pwj.3,p.T219S|uc003pwl.3,p.T169S|ENST00000319550,p.T219S|NM_152729,p.T219S	protein_coding, nonsense_mediated_decay	uc003pwl.3	nonsynonymous SNV	exon4	c.C506G	p.T169S	QLKNAGKILLLITSSHSDYCRLLCE	QLKNAGKILLLISSSHSDYCRLLCE	8.0	4.0	unscreened	-	4252_6:116542343-116542343 C>G_QLKNAGKILLLISSSHSDYCRLLCE
16:23226601-23226601 C>A	0.0	4252	COLORECTAL	-	-	-	-	SCNN1G	ENST00000300061,p.S587R|uc002dlm.1,p.S587R|NM_001039,p.S587R	protein_coding	uc002dlm.1	nonsynonymous SNV	exon13	c.C1761A	p.S587R	WKQAPPCPEAPRSPQGQDNPALDID	WKQAPPCPEAPRRPQGQDNPALDID	4.0	9.0	-	-	4252_16:23226601-23226601 C>A_WKQAPPCPEAPRRPQGQDNPALDID
10:22048262-22048262 T>C	1.0	4252	COLORECTAL	-	-	-	-	DNAJC1	uc001irc.3,p.E478G|ENST00000376980,p.E478G|NM_022365,p.E478G	protein_coding, processed_transcript, nonsense_mediated_decay	uc001irc.3	nonsynonymous SNV	exon11	c.A1433G	p.E478G	KRQKDFDIAEQNESSDEESLRKERA	KRQKDFDIAEQNGSSDEESLRKERA	9.0	3.0	-	-	4252_10:22048262-22048262 T>C_KRQKDFDIAEQNGSSDEESLRKERA
9:102589062-102589062 T>G	0.0	4252	COLORECTAL	-	-	-	1	NR4A3	NM_173200,p.S4A|ENST00000330847,p.S4A|uc022bky.1,p.S4A	protein_coding	uc022bky.1	nonsynonymous SNV	exon3	c.T10G	p.S4A	MHDSIRFGNVDMPCVQ	MHDAIRFGNVDMPCVQ	5.0	2.0	unscreened	-	4252_9:102589062-102589062 T>G_MHDAIRFGNVDMPCVQ
12:15262390-15262390 T>C	0.0	4252	COLORECTAL	-	-	-	-	RERG	NM_001190726,p.D66G|uc010shu.2,p.D66G|ENST00000545567,p.D98G|NM_032918,p.D85G|ENST00000546331,p.D66G|ENST00000256953,p.D85G|uc001rct.3,p.D85G|uc001rcs.3,p.D85G|ENST00000536465,p.D85G|ENST00000538313,p.D85G	retained_intron, protein_coding, processed_transcript	uc010shu.2	nonsynonymous SNV	exon4	c.A197G	p.D66G	HMRWGEGFVLVYDITDRGSFEEVLP	HMRWGEGFVLVYGITDRGSFEEVLP	5.0	6.0	unscreened	-	4252_12:15262390-15262390 T>C_HMRWGEGFVLVYGITDRGSFEEVLP
8:110450669-110450669 A>C	0.0	4252	COLORECTAL	-	-	-	-	PKHD1L1	uc003yne.3,p.K1248N|ENST00000378402,p.K1248N|NM_177531,p.K1248N	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon31	c.A3744C	p.K1248N	CLQTPIITDFSPKVRTILGEVNLTI	CLQTPIITDFSPNVRTILGEVNLTI	5.0	5.0	unscreened	-	4252_8:110450669-110450669 A>C_CLQTPIITDFSPNVRTILGEVNLTI
3:100594412-100594412 C>T	0.0	4252	COLORECTAL	-	-	-	-	ABI3BP	ENST00000471714,p.V260I|ENST00000527258,p.V179I|uc003dun.3,p.V260I|NM_015429,p.V260I|ENST00000495063,p.V260I|ENST00000284322,p.V260I|uc003dup.4,p.V253I|uc003duo.2,p.V253I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003dup.4	nonsynonymous SNV	exon8	c.G757A	p.V253I	IPITIIKQVIQNVTHKDSAKSPEKA	IPITIIKQVIQNITHKDSAKSPEKA	6.0	9.0	-	-	4252_3:100594412-100594412 C>T_IPITIIKQVIQNITHKDSAKSPEKA
3:115529178-115529178 G>T	0.0	4252	COLORECTAL	-	-	-	-	LSAMP	uc003ebs.3,p.L335I|NM_002338,p.L335I|ENST00000333617,p.L342I|ENST00000490035,p.L335I|ENST00000539563,p.L355I|uc011bis.2,p.L358I	retained_intron, protein_coding, processed_transcript	uc011bis.2	nonsynonymous SNV	exon9	c.C1072A	p.L358I	PLWLLAASLLCLLSKC	PLWLLAASLLCLISKC	5.0	9.0	-	-	4252_3:115529178-115529178 G>T_PLWLLAASLLCLISKC
1:158648212-158648212 G>C	0.0	4252	COLORECTAL	-	-	-	-	SPTA1	ENST00000368148,p.A264G|uc001fst.1,p.A264G|NM_003126,p.A264G|ENST00000368147,p.A264G	protein_coding, processed_transcript	uc001fst.1	nonsynonymous SNV	exon6	c.C791G	p.A264G	LALQRQKALSNAANLQRFKRDVTEA	LALQRQKALSNAGNLQRFKRDVTEA	1.0	3.0	unscreened	-	4252_1:158648212-158648212 G>C_LALQRQKALSNAGNLQRFKRDVTEA
3:129279219-129279219 T>C	0.0	4252	COLORECTAL	-	-	-	-	PLXND1	NM_015103,p.K1696R|ENST00000393239,p.K1696R|uc003emx.2,p.K1696R|ENST00000324093,p.K1696R|uc011blb.1,p.K364R	retained_intron, protein_coding, nonsense_mediated_decay	uc011blb.1	nonsynonymous SNV	exon10	c.A1091G	p.K364R	AEPKKSHRQSHRKKVLPEIYLTRLL	AEPKKSHRQSHRRKVLPEIYLTRLL	9.0	5.0	unscreened	-	4252_3:129279219-129279219 T>C_AEPKKSHRQSHRRKVLPEIYLTRLL
X:49355306-49355306 A>G	0.0	4252	COLORECTAL	-	-	-	-	GAGE2A	uc004doj.3,p.E18G|ENST00000362097,p.E18G|uc004doi.4,p.E18G|NM_001127212,p.E18G	protein_coding	uc004doj.3	nonsynonymous SNV	exon2	c.A53G	p.E18G	RSTYRPRPRRYVEPPEMIGPMRPEQ	RSTYRPRPRRYVGPPEMIGPMRPEQ	1.0	6.0	unscreened	-	4252_X:49355306-49355306 A>G_RSTYRPRPRRYVGPPEMIGPMRPEQ
17:56620311-56620311 A>C	0.0	4252	COLORECTAL	-	-	-	-	C17orf47	NM_001038704,p.L413V|uc002iwq.2,p.L413V|ENST00000321691,p.L413V	protein_coding	uc002iwq.2	nonsynonymous SNV	exon1	c.T1237G	p.L413V	SIHAELELTPRPLPPRSLPRYGPDS	SIHAELELTPRPVPPRSLPRYGPDS	2.0	6.0	unscreened	-	4252_17:56620311-56620311 A>C_SIHAELELTPRPVPPRSLPRYGPDS
19:16275584-16275584 G>A	0.0	4252	COLORECTAL	-	-	-	-	CIB3	uc010eae.3,p.R102W|uc010eag.3,p.R114W|NM_001300922,p.R114W|ENST00000269878,p.R163W|uc002nds.3,p.R163W|NM_054113,p.R163W|ENST00000379859,p.R114W	protein_coding, processed_transcript, nonsense_mediated_decay	uc010eag.3	nonsynonymous SNV	exon3	c.C340T	p.R114W	KVLDEADGDHDGRLSLEDFQNMILR	KVLDEADGDHDGWLSLEDFQNMILR	4.0	8.0	-	-	4252_19:16275584-16275584 G>A_KVLDEADGDHDGWLSLEDFQNMILR
15:85164658-85164658 C>T	0.0	4252	COLORECTAL	-	-	-	-	ZSCAN2	ENST00000546148,p.T411I|NM_181877,p.T411I|ENST00000540894,p.T411I|ENST00000448803,p.T411I|uc010bmz.1,p.T409I|uc010bna.3,p.T261I|ENST00000327179,p.T410I|uc002bkr.3,p.T411I|ENST00000358472,p.T261I	protein_coding, processed_transcript, nonsense_mediated_decay	uc010bna.3	nonsynonymous SNV	exon2	c.C782T	p.T261I	FSQSSALITHRRTHTGEKPYQCSEC	FSQSSALITHRRIHTGEKPYQCSEC	8.0	2.0	unscreened	-	4252_15:85164658-85164658 C>T_FSQSSALITHRRIHTGEKPYQCSEC
19:41816252-41816252 C>G	1.0	4252	COLORECTAL	-	-	-	-	CCDC97	uc002oqg.3,p.P13A|ENST00000269967,p.P13A|NM_052848,p.P13A	protein_coding	uc002oqg.3	nonsynonymous SNV	exon1	c.C37G	p.P13A	MEAVATATAAKEPDKGCIEPGPGHW	MEAVATATAAKEADKGCIEPGPGHW	8.0	6.0	-	-	4252_19:41816252-41816252 C>G_MEAVATATAAKEADKGCIEPGPGHW
12:49443499-49443499 C>T	1.0	4252	COLORECTAL	-	-	-	1	KMT2D	uc001rta.4,p.R1291Q|NM_003482,p.R1291Q|ENST00000301067,p.R1291Q	retained_intron, protein_coding, processed_transcript	uc001rta.4	nonsynonymous SNV	exon11	c.G3872A	p.R1291Q	ISGGKAEGEKGRRRSSPARSRIKQG	ISGGKAEGEKGRQRSSPARSRIKQG	8.0	9.0	-	-	4252_12:49443499-49443499 C>T_ISGGKAEGEKGRQRSSPARSRIKQG
19:52222539-52222539 C>T	0.0	4252	COLORECTAL	-	-	ID=COSM1000174;OCCURENCE=1(endometrium)	-	HAS1	NM_001297436,p.V207M|NM_001523,p.V208M|ENST00000540069,p.V207M|uc002pxo.1,p.V208M|ENST00000601714,p.V215M|ENST00000222115,p.V208M|ENST00000594621,p.V62M|uc010epd.1,p.V173M|uc002pxn.1,p.V215M|uc002pxp.1,p.V207M	protein_coding	uc010epd.1	nonsynonymous SNV	exon1	c.G517A	p.V173M	VEALVRTRRCVCVAQRWGGKREVMY	VEALVRTRRCVCMAQRWGGKREVMY	3.0	7.0	unscreened	-	4252_19:52222539-52222539 C>T_VEALVRTRRCVCMAQRWGGKREVMY
8:101059733-101059733 A>G	0.0	4252	COLORECTAL	-	-	-	-	RGS22	ENST00000523437,p.L582P|uc003yjc.1,p.L582P|NM_001286692,p.L582P|ENST00000360863,p.L594P|uc003yjb.1,p.L594P|uc003yja.1,p.L413P|NM_001286693,p.L413P|uc022azh.1,p.L498P|NM_015668,p.L594P|ENST00000523287,p.L413P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022azh.1	nonsynonymous SNV	exon8	c.T1493C	p.L498P	VKTATQKPWKRELLYPGSSKDDVIE	VKTATQKPWKREPLYPGSSKDDVIE	5.0	4.0	unscreened	-	4252_8:101059733-101059733 A>G_VKTATQKPWKREPLYPGSSKDDVIE
X:99551601-99551601 C>A	0.0	4252	COLORECTAL	-	-	-	-	PCDH19	ENST00000420881,p.V993L|uc004efx.4,p.V994L|NM_001105243,p.V994L|ENST00000255531,p.V994L|uc004efw.4,p.V993L|uc010nmz.3,p.V1041L|ENST00000373034,p.V1041L|NM_001184880,p.V1041L|NM_020766,p.V993L	protein_coding, processed_transcript	uc010nmz.3	nonsynonymous SNV	exon6	c.G3121T	p.V1041L	ERPTLKGKRTVDVTICSPKVNSVIR	ERPTLKGKRTVDLTICSPKVNSVIR	3.0	1.0	unscreened	-	4252_X:99551601-99551601 C>A_ERPTLKGKRTVDLTICSPKVNSVIR
19:56544913-56544913 G>T	0.0	4252	COLORECTAL	-	-	-	-	NLRP5	NM_153447,p.R818I|ENST00000390649,p.R818I|uc002qmi.3,p.R799I|uc002qmj.3,p.R818I	protein_coding, nonsense_mediated_decay	uc002qmj.3	nonsynonymous SNV	exon9	c.G2453T	p.R818I	RHPTCKIQTLMFRNAQITPGVQHLW	RHPTCKIQTLMFINAQITPGVQHLW	1.0	8.0	unscreened	-	4252_19:56544913-56544913 G>T_RHPTCKIQTLMFINAQITPGVQHLW
19:2227019-2227019 C>G	1.0	4252	COLORECTAL	-	-	-	-	DOT1L	NM_032482,p.S1500C|ENST00000446286,p.S35C|ENST00000398665,p.S1500C|uc002lvc.1,p.S794C|uc002lvb.4,p.S1500C|ENST00000457590,p.S380C	retained_intron, protein_coding, processed_transcript	uc002lvc.1	nonsynonymous SNV	exon13	c.C2381G	p.S794C	VAGSSVLQSLFSSVPAAAGLVHVSS	VAGSSVLQSLFSCVPAAAGLVHVSS	7.0	6.0	-	-	4252_19:2227019-2227019 C>G_VAGSSVLQSLFSCVPAAAGLVHVSS
8:41525927-41525927 T>C	0.0	4252	COLORECTAL	-	-	-	2	ANK1	uc003xom.3,p.E1792G|NM_020476,p.E1751G|NM_020475,p.E1751G|NM_001142446,p.E1792G|ENST00000396945,p.E1751G|ENST00000352337,p.E1751G|ENST00000289734,p.E1751G|uc003xoh.3,p.E905G|ENST00000379758,p.E1751G|uc003xoi.3,p.E1751G|uc003xok.3,p.E1751G|ENST00000265709,p.E1792G|NM_000037,p.E1751G|ENST00000347528,p.E1751G|ENST00000396942,p.E1751G|uc003xoj.3,p.E1751G|uc003xol.3,p.E1589G|NM_020477,p.E1589G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xom.3	nonsynonymous SNV	exon40	c.A5375G	p.E1792G	TEGLEPGGSQEYEKVLVSVSEHTWT	TEGLEPGGSQEYGKVLVSVSEHTWT	3.0	3.0	unscreened	-	4252_8:41525927-41525927 T>C_TEGLEPGGSQEYGKVLVSVSEHTWT
11:7324615-7324615 C>T	0.0	4252	COLORECTAL	0.0005	-	-	-	SYT9	ENST00000524820,p.S132L|uc001mfe.3,p.S164L|NM_175733,p.S164L|ENST00000318881,p.S164L|ENST00000396716,p.S132L	protein_coding, processed_transcript, nonsense_mediated_decay	uc001mfe.3	nonsynonymous SNV	exon2	c.C491T	p.S164L	VRVQRQVTEPTSSARHNSIRRQLNL	VRVQRQVTEPTSLARHNSIRRQLNL	1.0	9.0	unscreened	-	4252_11:7324615-7324615 C>T_VRVQRQVTEPTSLARHNSIRRQLNL
3:119465989-119465989 A>C	0.0	4252	COLORECTAL	-	-	-	-	MAATS1	NM_033364,p.S644R|ENST00000273390,p.S644R|uc011bje.2,p.S624R|uc003ede.4,p.S644R|uc010hqz.3,p.S582R|uc011bjd.2,p.S518R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bje.2	nonsynonymous SNV	exon15	c.A1870C	p.S624R	FKEVVKVHHSTISSYLEDIILNTEA	FKEVVKVHHSTIRSYLEDIILNTEA	5.0	2.0	unscreened	-	4252_3:119465989-119465989 A>C_FKEVVKVHHSTIRSYLEDIILNTEA
12:2694569-2694569 G>T	0.0	4252	COLORECTAL	-	-	-	-	CACNA1C	NM_001129832,p.E789D|NM_000719,p.E789D|NM_001129831,p.E789D|uc001qko.2,p.E789D|NM_001129844,p.E786D|ENST00000399621,p.E789D|ENST00000327702,p.E789D|uc001qjz.2,p.E789D|ENST00000399617,p.E789D|uc001qks.2,p.E789D|ENST00000399644,p.E789D|NM_001167623,p.E789D|ENST00000399591,p.E789D|NM_001129833,p.E789D|NM_001129843,p.E789D|ENST00000399603,p.E789D|uc001qkb.2,p.E789D|NM_001129839,p.E789D|uc001qkf.2,p.E789D|NM_001129836,p.E789D|uc001qkr.2,p.E789D|uc009zdu.1,p.E789D|NM_199460,p.E789D|uc001qkp.2,p.E789D|NM_001167625,p.E789D|NM_001129834,p.E789D|ENST00000399637,p.E789D|ENST00000399601,p.E789D|ENST00000399597,p.E789D|uc001qkc.2,p.E789D|NM_001129829,p.E789D|NM_001129846,p.E789D|ENST00000347598,p.E789D|uc001qkj.2,p.E789D|ENST00000399606,p.E789D|ENST00000344100,p.E789D|uc001qkq.2,p.E789D|uc009zdv.1,p.E786D|uc001qki.1,p.E525D|NM_001129827,p.E789D|ENST00000335762,p.E814D|uc001qku.2,p.E789D|ENST00000399629,p.E789D|ENST00000399641,p.E789D|ENST00000480911,p.E789D|ENST00000399638,p.E789D|uc001qkt.2,p.E789D|ENST00000399655,p.E789D|uc001qkd.2,p.E789D|ENST00000399649,p.E789D|ENST00000406454,p.E789D|ENST00000402845,p.E789D|uc001qkn.2,p.E789D|ENST00000399634,p.E789D|uc001qkl.2,p.E789D|uc001qka.1,p.E324D|uc001qke.2,p.E789D|NM_001167624,p.E789D|uc001qkk.2,p.E789D|uc001qkh.2,p.E789D|NM_001129838,p.E789D|NM_001129835,p.E789D|ENST00000399595,p.E789D|uc001qkm.2,p.E789D|NM_001129842,p.E789D|NM_001129841,p.E789D|NM_001129840,p.E789D|NM_001129830,p.E789D|uc001qkg.2,p.E789D|uc009zdw.1,p.E789D|NM_001129837,p.E789D	retained_intron, protein_coding, processed_transcript	uc009zdw.1	nonsynonymous SNV	exon17	c.G2367T	p.E789D	KLARTASPEKKQELVEKPAVGESKE	KLARTASPEKKQDLVEKPAVGESKE	5.0	1.0	unscreened	-	4252_12:2694569-2694569 G>T_KLARTASPEKKQDLVEKPAVGESKE
12:104697894-104697894 C>T	0.0	4252	COLORECTAL	-	-	ID=COSM1298847;OCCURENCE=1(urinary_tract)	-	EID3	uc001tkw.3,p.S61L|NM_001008394,p.S61L|ENST00000527879,p.S61L	protein_coding	uc001tkw.3	nonsynonymous SNV	exon1	c.C182T	p.S61L	YCVRQNREDIVSSANNSLTEALEEA	YCVRQNREDIVSLANNSLTEALEEA	4.0	7.0	unscreened	-	4252_12:104697894-104697894 C>T_YCVRQNREDIVSLANNSLTEALEEA
21:45649510-45649510 A>G	0.0	4252	COLORECTAL	-	-	-	-	ICOSLG	ENST00000400379,p.L442P	protein_coding	ENST00000400379	nonsynonymous SNV	exon6	c.T1325C	p.L442P	VSRAGPGTGAQPLWGVRSGSGHRQL	VSRAGPGTGAQPPWGVRSGSGHRQL	7.0	4.0	-	-	4252_21:45649510-45649510 A>G_VSRAGPGTGAQPPWGVRSGSGHRQL
18:54814988-54814988 G>A	0.0	4252	COLORECTAL	-	-	-	-	BOD1L2	ENST00000585477,p.E149K|uc002lgm.3,p.E149K|NM_001257964,p.E149K	protein_coding	uc002lgm.3	nonsynonymous SNV	exon1	c.G445A	p.E149K	EQIIHEFLVAQKEAAVPALPPEPEG	EQIIHEFLVAQKKAAVPALPPEPEG	1.0	2.0	unscreened	-	4252_18:54814988-54814988 G>A_EQIIHEFLVAQKKAAVPALPPEPEG
7:33016104-33016104 T>A	1.0	4252	COLORECTAL	-	-	-	2	FKBP9	ENST00000242209,p.D232E|uc003tdh.3,p.D232E|ENST00000538336,p.D285E|NM_001284341,p.D285E|NM_007270,p.D232E|uc011kal.2,p.D285E|ENST00000538443,p.D94E	retained_intron, protein_coding, processed_transcript	uc011kal.2	nonsynonymous SNV	exon5	c.T855A	p.D285E	IITIPPFLAYGEDGDGKDIPGQASL	IITIPPFLAYGEEGDGKDIPGQASL	9.0	2.0	-	-	4252_7:33016104-33016104 T>A_IITIPPFLAYGEEGDGKDIPGQASL
3:195511876-195511876 G>T	0.0	4252	COLORECTAL	-	-	-	2	MUC4	ENST00000475231,p.P2192H|ENST00000478156,p.P2192H|uc021xjp.1,p.P2192H|ENST00000477756,p.P2192H|ENST00000463781,p.P2192H|ENST00000470451,p.P2192H|ENST00000462323,p.P2192H|ENST00000477086,p.P2192H|ENST00000480843,p.P2192H|ENST00000479406,p.P2192H|ENST00000466475,p.P2192H|NM_018406,p.P2192H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C6575A	p.P2192H	TDTSSASTGHATPLPVTDTSSASTG	TDTSSASTGHATHLPVTDTSSASTG	6.0	3.0	unscreened	-	4252_3:195511876-195511876 G>T_TDTSSASTGHATHLPVTDTSSASTG
2:39156960-39156960 A>C	0.0	4252	COLORECTAL	-	-	-	-	ARHGEF33	ENST00000536934,p.K117N|ENST00000409978,p.K117N|uc021vgd.1,p.K117N|NM_001145451,p.K117N|ENST00000398800,p.K117N	retained_intron, protein_coding, processed_transcript	uc021vgd.1	nonsynonymous SNV	exon4	c.A351C	p.K117N	EQLQQEKRRESRKVKAKKTQKEEHS	EQLQQEKRRESRNVKAKKTQKEEHS	4.0	1.0	unscreened	-	4252_2:39156960-39156960 A>C_EQLQQEKRRESRNVKAKKTQKEEHS
1:145361463-145361463 C>A	1.0	4252	COLORECTAL	-	rs77064224	-	-	NBPF25P	ENST00000342960,p.Q3123K|uc021oul.2,p.Q3123K	protein_coding, processed_transcript	uc021oul.2	nonsynonymous SNV	exon75	c.C9367A	p.Q3123K	GLAVDMDEIEKYQEVEEDQDPSCPR	GLAVDMDEIEKYKEVEEDQDPSCPR	8.0	5.0	-	-	4252_1:145361463-145361463 C>A_GLAVDMDEIEKYKEVEEDQDPSCPR
3:100949888-100949888 A>T	0.0	4252	COLORECTAL	-	-	-	-	IMPG2	uc003duq.2,p.L1112H|NM_016247,p.L1112H|uc011bhe.2,p.L975H|ENST00000193391,p.L1112H	protein_coding	uc011bhe.2	nonsynonymous SNV	exon15	c.T2924A	p.L975H	VIIGITIASVVGLLVIFSAIIYFFI	VIIGITIASVVGHLVIFSAIIYFFI	2.0	7.0	unscreened	-	4252_3:100949888-100949888 A>T_VIIGITIASVVGHLVIFSAIIYFFI
19:15375416-15375416 G>T	1.0	4252	COLORECTAL	-	-	-	1	BRD4	ENST00000371835,p.D337E|uc002nar.3,p.D337E|ENST00000263377,p.D337E|ENST00000360016,p.D337E|uc002nat.3,p.D337E|uc002nas.3,p.D337E|NM_058243,p.D337E|ENST00000594841,p.D337E|NM_014299,p.D337E|uc002nau.4,p.D337E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nau.4	nonsynonymous SNV	exon6	c.C1011A	p.D337E	SRPVKPPKKDVPDSQQHPAPEKSSK	SRPVKPPKKDVPESQQHPAPEKSSK	9.0	6.0	-	-	4252_19:15375416-15375416 G>T_SRPVKPPKKDVPESQQHPAPEKSSK
11:18042551-18042551 T>G	0.0	4252	COLORECTAL	-	-	-	-	TPH1	NM_004179,p.K441T|ENST00000250018,p.K441T|uc001mnp.2,p.K441T	protein_coding, processed_transcript, nonsense_mediated_decay	uc001mnp.2	nonsynonymous SNV	exon10	c.A1322C	p.K441T	DVVSDALAKVSRKPSI	DVVSDALAKVSRTPSI	3.0	1.0	unscreened	-	4252_11:18042551-18042551 T>G_DVVSDALAKVSRTPSI
21:31654950-31654950 C>T	0.0	4252	COLORECTAL	-	-	-	-	KRTAP24-1	uc002ynv.3,p.G101S|ENST00000340345,p.G101S|NM_001085455,p.G101S	protein_coding	uc002ynv.3	nonsynonymous SNV	exon1	c.G301A	p.G101S	SNSSVPCNSPSAGQVFSVCETTNVS	SNSSVPCNSPSASQVFSVCETTNVS	1.0	8.0	unscreened	-	4252_21:31654950-31654950 C>T_SNSSVPCNSPSASQVFSVCETTNVS
1:161018181-161018181 T>C	0.0	4252	COLORECTAL	-	-	-	-	ARHGAP30	ENST00000368015,p.E700G|NM_001287602,p.E700G|uc001fxl.3,p.E877G|NM_001287600,p.E729G|uc001fxm.3,p.E723G|ENST00000368013,p.E877G|uc009wtx.3,p.E550G|NM_001025598,p.E877G	retained_intron, protein_coding, nonsense_mediated_decay	uc009wtx.3	nonsynonymous SNV	exon10	c.A1649G	p.E550G	SGVASLEVDCAKEGNPHSSEMEEVA	SGVASLEVDCAKGGNPHSSEMEEVA	7.0	2.0	unscreened	-	4252_1:161018181-161018181 T>C_SGVASLEVDCAKGGNPHSSEMEEVA
19:58117272-58117282 TTCTGGATGAG>-	0.0	4252	COLORECTAL	-	-	-	-	ZNF530	NM_020880,p.F127fs|uc002qpk.2,p.F127fs|ENST00000332854,p.F127fs|ENST00000600619,p.F127fs	retained_intron, protein_coding, nonsense_mediated_decay	uc002qpk.2	frameshift deletion	exon3	c.379_389del	p.F127fs	GQKLYLGGASRDFWMSSNLHQLQKL	GQKLYLGGASRDFKPSPAPEA	8.0	8.0	-	-	4252_19:58117272-58117282 TTCTGGATGAG>-_GQKLYLGGASRDFKPSPAPEA
6:30917553-30917553 C>A	0.0	4252	COLORECTAL	-	-	-	-	DPCR1	NM_080870,p.P438T|uc003nsg.2,p.P438T|ENST00000462446,p.P438T	protein_coding	uc003nsg.2	nonsynonymous SNV	exon2	c.C1312A	p.P438T	RTPLANENTTPSPAEPTENRERTAN	RTPLANENTTPSTAEPTENRERTAN	3.0	2.0	unscreened	-	4252_6:30917553-30917553 C>A_RTPLANENTTPSTAEPTENRERTAN
8:21844658-21844689 CCAGCTGATGAACCTAACAGATTCTCGTTTGG>-	0.0	4252	COLORECTAL	-	-	-	-	XPO7	ENST00000434536,p.L537fs|NM_015024,p.L528fs|ENST00000433566,p.L529fs|uc003xaa.4,p.L528fs|ENST00000252512,p.L528fs	retained_intron, protein_coding, processed_transcript	uc003xaa.4	frameshift deletion	exon14	c.1584_1615del	p.L528fs	QDAMDGELVCRVLQLMNLTDSRLAQ	QDAMDGELVCRVLPGG	8.0	8.0	-	-	4252_8:21844658-21844689 CCAGCTGATGAACCTAACAGATTCTCGTTTGG>-_QDAMDGELVCRVLPGG
12:110293518-110293518 T>C	0.0	4252	COLORECTAL	-	-	-	-	GLTP	uc001tpm.3,p.E118G|NM_016433,p.E118G|ENST00000318348,p.E118G|ENST00000544393,p.E99G	protein_coding, nonsense_mediated_decay	uc001tpm.3	nonsynonymous SNV	exon4	c.A353G	p.E118G	VFLQSICDGERDENHPNLIRVNATK	VFLQSICDGERDGNHPNLIRVNATK	8.0	5.0	unscreened	-	4252_12:110293518-110293518 T>C_VFLQSICDGERDGNHPNLIRVNATK
13:72147030-72147030 A>G	1.0	4252	COLORECTAL	-	-	-	-	DACH1	uc021rkj.1,p.M416T|ENST00000305425,p.M416T|ENST00000359684,p.M468T	protein_coding	uc021rkj.1	nonsynonymous SNV	exon4	c.T1247C	p.M416T	MSQMNHLSTIANMAAAAQVQSPPSR	MSQMNHLSTIANTAAAAQVQSPPSR	7.0	7.0	-	-	4252_13:72147030-72147030 A>G_MSQMNHLSTIANTAAAAQVQSPPSR
14:20020167-20020167 A>T	0.0	4252	COLORECTAL	-	-	-	-	POTEM	ENST00000547722,p.F18L|ENST00000551509,p.F18L|ENST00000547848,p.F18L|NM_001145442,p.F18L|uc001vwc.3,p.F18L	protein_coding, nonsense_mediated_decay	uc001vwc.3	nonsynonymous SNV	exon1	c.T54A	p.F18L	GSMPAASSVKKPFGLRSKMGKWCRH	GSMPAASSVKKPLGLRSKMGKWCRH	2.0	6.0	unscreened	-	4252_14:20020167-20020167 A>T_GSMPAASSVKKPLGLRSKMGKWCRH
19:52888484-52888484 C>A	0.0	4252	COLORECTAL	-	-	-	-	ZNF880	uc002pzc.3,p.H551N|ENST00000422689,p.H551N|NM_001145434,p.H551N	protein_coding, processed_transcript	uc002pzc.3	nonsynonymous SNV	exon4	c.C1651A	p.H551N	ERIHTGEKPYRCHECGKDFTRNSNL	ERIHTGEKPYRCNECGKDFTRNSNL	7.0	2.0	unscreened	-	4252_19:52888484-52888484 C>A_ERIHTGEKPYRCNECGKDFTRNSNL
11:32635921-32635921 C>T	0.0	4252	COLORECTAL	-	-	ID=COSM1638819;OCCURENCE=1(stomach)	-	CCDC73	uc001mtv.4,p.R648Q|NM_001008391,p.R648Q|ENST00000335185,p.R648Q	protein_coding, processed_transcript	uc001mtv.4	nonsynonymous SNV	exon16	c.G1943A	p.R648Q	KKNPVPCQKYSLRNSSNVMLDDKQC	KKNPVPCQKYSLQNSSNVMLDDKQC	4.0	8.0	-	-	4252_11:32635921-32635921 C>T_KKNPVPCQKYSLQNSSNVMLDDKQC
20:3682134-3682134 G>C	0.0	4252	COLORECTAL	-	-	-	-	SIGLEC1	uc002wja.3,p.H461Q|uc002wiz.4,p.H461Q|ENST00000344754,p.H461Q|NM_023068,p.H461Q|ENST00000202578,p.H461Q	protein_coding	uc002wja.3	nonsynonymous SNV	exon6	c.C1383G	p.H461Q	GHILASTSGDSDHSPRFSGTSGPNS	GHILASTSGDSDQSPRFSGTSGPNS	7.0	8.0	-	-	4252_20:3682134-3682134 G>C_GHILASTSGDSDQSPRFSGTSGPNS
14:19553470-19553470 T>A	0.0	4252	COLORECTAL	-	-	-	-	POTEG	uc001vuz.1,p.F18L|ENST00000547889,p.F18L|NM_001005356,p.F18L|ENST00000409832,p.F18L|ENST00000552966,p.F18L	protein_coding, nonsense_mediated_decay	uc001vuz.1	nonsynonymous SNV	exon1	c.T54A	p.F18L	GSMPAASSVKKPFGLRSKMGKWCRH	GSMPAASSVKKPLGLRSKMGKWCRH	2.0	5.0	unscreened	-	4252_14:19553470-19553470 T>A_GSMPAASSVKKPLGLRSKMGKWCRH
19:813721-813721 G>C	0.0	4252	COLORECTAL	-	-	-	-	LPPR3	uc002lpx.2,p.P336A|ENST00000520876,p.P336A|uc002lpw.2,p.P364A|NM_024888,p.P364A|NM_001270366,p.P336A|uc002lpy.2,p.P117A|ENST00000359894,p.P364A	retained_intron, protein_coding	uc002lpy.2	nonsynonymous SNV	exon7	c.C349G	p.P117A	DELGPPGRLEGAPRPVAREKTSLGS	DELGPPGRLEGAARPVAREKTSLGS	4.0	2.0	unscreened	-	4252_19:813721-813721 G>C_DELGPPGRLEGAARPVAREKTSLGS
6:30529689-30529689 G>C	1.0	4252	COLORECTAL	-	-	-	-	PRR3	NM_025263,p.R83T|ENST00000376560,p.R83T|uc003nqi.2,p.R83T|uc003nqj.2,p.R62T|ENST00000376557,p.R62T|NM_001077497,p.R62T	retained_intron, protein_coding, processed_transcript	uc003nqj.2	nonsynonymous SNV	exon2	c.G185C	p.R62T	PPLLSLPPPPWGRGPIRRGLGPRSS	PPLLSLPPPPWGTGPIRRGLGPRSS	8.0	5.0	-	-	4252_6:30529689-30529689 G>C_PPLLSLPPPPWGTGPIRRGLGPRSS
5:86627218-86627218 C>T	0.0	4252	COLORECTAL	-	-	-	-	RASA1	uc011ctw.2,p.A32V|NM_022650,p.A21V|NM_002890,p.A198V|uc010jaw.3,p.A21V|uc003kix.3,p.A21V|uc011ctv.2,p.A31V|ENST00000274376,p.A198V|uc003kiw.3,p.A198V|ENST00000515800,p.A198V|ENST00000456692,p.A21V|ENST00000512763,p.A31V|ENST00000506290,p.A32V	retained_intron, protein_coding, nonsense_mediated_decay	uc011ctw.2	nonsynonymous SNV	exon3	c.C95T	p.A32V	LDRTIAEERLRQAGKSGSYLIRESD	LDRTIAEERLRQVGKSGSYLIRESD	7.0	3.0	unscreened	-	4252_5:86627218-86627218 C>T_LDRTIAEERLRQVGKSGSYLIRESD
1:207669713-207669713 T>G	0.0	4252	COLORECTAL	-	-	-	-	CR1	ENST00000367052,p.L34R|uc010psg.1,p.L34R|uc001hfy.3,p.L34R|ENST00000367053,p.L34R|NM_000651,p.L34R|ENST00000400960,p.L34R|uc009xcl.1,p.L34R|ENST00000534202,p.L34R|uc001hfx.3,p.L34R|uc021pij.1,p.L34R|NM_000573,p.L34R|ENST00000367051,p.L34R|uc009xcj.1,p.L34R|ENST00000367049,p.L34R|uc009xck.1,p.L34R	retained_intron, protein_coding, processed_transcript	uc021pij.1	nonsynonymous SNV	exon1	c.T101G	p.L34R	CCGGSLLAVVVLLALPVAWGQCNAP	CCGGSLLAVVVLRALPVAWGQCNAP	4.0	6.0	unscreened	-	4252_1:207669713-207669713 T>G_CCGGSLLAVVVLRALPVAWGQCNAP
X:101910262-101910262 A>C	0.0	4252	COLORECTAL	-	-	-	-	GPRASP1	NM_001099410,p.K474T|ENST00000537097,p.K474T|uc010nod.3,p.K474T|uc022cbc.1,p.K474T|NM_001099411,p.K474T|ENST00000444152,p.K474T|ENST00000361600,p.K474T|uc004eji.4,p.K474T|uc022cbd.1,p.K474T|ENST00000415986,p.K474T|uc004ejj.4,p.K474T|NM_014710,p.K474T|NM_001184727,p.K474T	protein_coding, processed_transcript	uc022cbd.1	nonsynonymous SNV	exon1	c.A1421C	p.K474T	ERIGDSLFGAREKTSMKTGAEATSE	ERIGDSLFGARETTSMKTGAEATSE	5.0	4.0	unscreened	-	4252_X:101910262-101910262 A>C_ERIGDSLFGARETTSMKTGAEATSE
10:94836975-94836975 G>A	1.0	4252	COLORECTAL	-	-	-	-	CYP26A1	ENST00000224356,p.G470R|ENST00000371531,p.G401R|NM_000783,p.G470R|NM_057157,p.G401R|uc001kik.1,p.G401R|uc001kil.2,p.G470R|ENST00000394139,p.G401R	protein_coding	uc001kil.2	nonsynonymous SNV	exon7	c.G1408A	p.G470R	ELARHCDWQLLNGPPTMKTSPTVYP	ELARHCDWQLLNRPPTMKTSPTVYP	5.0	6.0	-	-	4252_10:94836975-94836975 G>A_ELARHCDWQLLNRPPTMKTSPTVYP
9:103348233-103348248 AAGAAGGCATTTTCCA>-	0.0	4252	COLORECTAL	-	-	-	-	MURC	uc004bba.3,p.K199fs|NM_001018116,p.K199fs|ENST00000307584,p.K199fs	protein_coding	uc004bba.3	frameshift deletion	exon2	c.595_610del	p.K199fs	LRKSGKEHIDNIKKAFSKENMQKTR	LRKSGKEHIDNIKKTCRRHGRILTRK	3.0	7.0	unscreened	-	4252_9:103348233-103348248 AAGAAGGCATTTTCCA>-_LRKSGKEHIDNIKKTCRRHGRILTRK
17:39623402-39623402 G>C	0.0	4252	COLORECTAL	-	-	-	-	KRT32	uc002hwr.3,p.A59G|ENST00000225899,p.A59G|NM_002278,p.A59G	protein_coding	uc002hwr.3	nonsynonymous SNV	exon1	c.C176G	p.A59G	LPSVCLPTTFRPASCLSKTYLSSSC	LPSVCLPTTFRPGSCLSKTYLSSSC	2.0	5.0	unscreened	-	4252_17:39623402-39623402 G>C_LPSVCLPTTFRPGSCLSKTYLSSSC
1:1887054-1887054 C>A	0.0	4252	COLORECTAL	-	-	-	-	CFAP74	NM_001080484,p.G751V|uc001aim.1,p.G751V	retained_intron, protein_coding, processed_transcript	uc001aim.1	nonsynonymous SNV	exon18	c.G2252T	p.G751V	GEGLRAAFQGAEGPRGGLESREFS	GEGLRAAFQGAEVPRGGLESREFS	3.0	6.0	unscreened	-	4252_1:1887054-1887054 C>A_GEGLRAAFQGAEVPRGGLESREFS
17:72929627-72929627 A>C	0.0	4252	COLORECTAL	-	-	-	-	OTOP2	ENST00000331427,p.Y559S|uc010wrp.2,p.Y559S|ENST00000580223,p.Y559S|NM_178160,p.Y559S	retained_intron, protein_coding	uc010wrp.2	nonsynonymous SNV	exon7	c.A1676C	p.Y559S	YRMHAVSSLLEVYVLS	YRMHAVSSLLEVSVLS	1.0	3.0	unscreened	-	4252_17:72929627-72929627 A>C_YRMHAVSSLLEVSVLS
6:25917069-25917069 A>C	0.0	4252	COLORECTAL	-	-	-	-	SLC17A2	ENST00000265425,p.S258R|NM_005835,p.S258R|ENST00000377850,p.S258R|NM_001286123,p.S258R|ENST00000360488,p.S258R|NM_001286125,p.S258R|uc011dkb.2,p.S258R|uc003nfl.3,p.S258R|uc011dkc.2,p.S258R	protein_coding	uc011dkc.2	nonsynonymous SNV	exon7	c.T774G	p.S258R	KEHILSSLAQQPSSPGRAVPIKAMV	KEHILSSLAQQPRSPGRAVPIKAMV	1.0	3.0	unscreened	-	4252_6:25917069-25917069 A>C_KEHILSSLAQQPRSPGRAVPIKAMV
9:34402802-34402802 T>G	0.0	4252	COLORECTAL	-	-	-	-	FAM219A	NM_001184940,p.K55T|ENST00000379078,p.K54T|ENST00000379080,p.K43T|uc011lok.2,p.K55T|ENST00000422409,p.K54T|uc022bgc.1,p.K55T|ENST00000445726,p.K55T|ENST00000379089,p.K54T|NM_001184942,p.K44T|NM_001184941,p.K55T|uc011lol.2,p.K44T	protein_coding	uc022bgc.1	nonsynonymous SNV	exon3	c.A164C	p.K55T	NYKPSPLQVKLEKQRELARKGSLKN	NYKPSPLQVKLETQRELARKGSLKN	7.0	3.0	unscreened	-	4252_9:34402802-34402802 T>G_NYKPSPLQVKLETQRELARKGSLKN
9:37745724-37745724 A>C	0.0	4252	COLORECTAL	-	-	-	-	FRMPD1	uc004aah.1,p.N1232T|ENST00000539465,p.N1232T|ENST00000377765,p.N1232T|uc004aag.1,p.N1232T|NM_014907,p.N1232T	protein_coding	uc004aah.1	nonsynonymous SNV	exon16	c.A3695C	p.N1232T	AVPPEGIKAEAPNHVTGQDIAPRDS	AVPPEGIKAEAPTHVTGQDIAPRDS	2.0	4.0	unscreened	-	4252_9:37745724-37745724 A>C_AVPPEGIKAEAPTHVTGQDIAPRDS
2:74884745-74884745 G>T	1.0	4252	COLORECTAL	-	-	-	-	SEMA4F	ENST00000434486,p.K117N|uc010ffq.2,p.K117N|NM_001271662,p.K117N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ffq.2	nonsynonymous SNV	exon3	c.G351T	p.K117N	PEAHRQNCRKKGKKEDVSRFQQVER	PEAHRQNCRKKGNKEDVSRFQQVER	6.0	7.0	-	-	4252_2:74884745-74884745 G>T_PEAHRQNCRKKGNKEDVSRFQQVER
19:10226649-10226649 G>A	1.0	4252	COLORECTAL	-	-	-	-	EIF3G	ENST00000593054,p.R44C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000593054	nonsynonymous SNV	exon2	c.C130T	p.R44C	GASRRGESMQPNRREDTRETDLQEL	GASRRGESMQPNCREDTRETDLQEL	10.0	3.0	-	-	4252_19:10226649-10226649 G>A_GASRRGESMQPNCREDTRETDLQEL
11:103006671-103006671 A>C	0.0	4252	COLORECTAL	-	-	-	-	DYNC2H1	NM_001080463,p.Q856H|ENST00000375735,p.Q856H|uc001pho.2,p.Q856H|NM_001377,p.Q856H|uc001phn.1,p.Q856H|ENST00000398093,p.Q856H	retained_intron, protein_coding, nonsense_mediated_decay	uc001pho.2	nonsynonymous SNV	exon17	c.A2568C	p.Q856H	EDLFRRLSAVLHQHKEWIVIGQVDM	EDLFRRLSAVLHHHKEWIVIGQVDM	6.0	4.0	unscreened	-	4252_11:103006671-103006671 A>C_EDLFRRLSAVLHHHKEWIVIGQVDM
9:34402802-34402802 T>G	0.0	4252	COLORECTAL	-	-	-	-	FAM219A	uc022bgd.1,p.K38T|NM_147202,p.K38T|ENST00000379084,p.K37T|NM_001184945,p.K27T|uc003zul.3,p.K27T|uc003zuj.3,p.K38T|ENST00000379081,p.K26T|ENST00000379087,p.K37T|NM_001184943,p.K38T|uc003zuk.3,p.K27T|ENST00000297620,p.K38T	protein_coding	uc022bgd.1	nonsynonymous SNV	exon3	c.A113C	p.K38T	SISDGDCDAREEKQRELARKGSLKN	SISDGDCDAREETQRELARKGSLKN	7.0	3.0	unscreened	-	4252_9:34402802-34402802 T>G_SISDGDCDAREETQRELARKGSLKN
3:155200651-155200651 C>A	1.0	4252	COLORECTAL	-	-	-	-	PLCH1	ENST00000460012,p.G1025V|ENST00000414191,p.G1025V|uc021xgf.1,p.G1025V|NM_001130960,p.G1063V|uc021xge.1,p.G1063V|NM_014996,p.G1025V|ENST00000340059,p.G1063V|ENST00000334686,p.G1025V	retained_intron, protein_coding	uc021xgf.1	nonsynonymous SNV	exon22	c.G3074T	p.G1025V	VTGEQLGMSSPRGGRTTSNATSNCQ	VTGEQLGMSSPRVGRTTSNATSNCQ	6.0	7.0	-	-	4252_3:155200651-155200651 C>A_VTGEQLGMSSPRVGRTTSNATSNCQ
19:54401296-54401296 G>A	0.0	4252	COLORECTAL	-	-	ID=COSM192961;OCCURENCE=1(large_intestine)	-	PRKCG	uc010yef.1,p.R312Q|ENST00000536044,p.R312Q	protein_coding	uc010yef.1	nonsynonymous SNV	exon9	c.G935A	p.R312Q	LVPPTPSAASSGRVQDACTSPTSAS	LVPPTPSAASSGQVQDACTSPTSAS	4.0	8.0	unscreened	-	4252_19:54401296-54401296 G>A_LVPPTPSAASSGQVQDACTSPTSAS
4:170028070-170028070 G>C	1.0	4252	COLORECTAL	-	-	-	-	SH3RF1	NM_020870,p.A809G|ENST00000284637,p.A809G|uc003isa.1,p.A809G	protein_coding, processed_transcript, nonsense_mediated_decay	uc003isa.1	nonsynonymous SNV	exon11	c.C2426G	p.A809G	RKASSLDSAVPIAPPPRQACSSLGP	RKASSLDSAVPIGPPPRQACSSLGP	6.0	5.0	-	-	4252_4:170028070-170028070 G>C_RKASSLDSAVPIGPPPRQACSSLGP
7:155755908-155755908 A>G	0.0	4252	COLORECTAL	-	-	-	-	LOC389602	NM_001291913,p.R129G|ENST00000377722,p.R129G	protein_coding	NM_001291913	nonsynonymous SNV	exon1	c.A385G	p.R129G	KRQSRGDGVPQRRRSTEAEVQACRH	KRQSRGDGVPQRGRSTEAEVQACRH	6.0	3.0	unscreened	-	4252_7:155755908-155755908 A>G_KRQSRGDGVPQRGRSTEAEVQACRH
X:19416407-19416407 G>C	0.0	4252	COLORECTAL	-	-	-	-	MAP3K15	ENST00000338883,p.A668G|NM_001001671,p.A668G|ENST00000469203,p.A500G|uc004czk.2,p.A143G|uc022btq.1,p.A668G|ENST00000359173,p.A103G|uc004czj.2,p.A103G	retained_intron, protein_coding, processed_transcript	uc022btq.1	nonsynonymous SNV	exon15	c.C2003G	p.A668G	VVLGKGTYGIVYAGRDLSNQVRIAI	VVLGKGTYGIVYGGRDLSNQVRIAI	4.0	5.0	unscreened	-	4252_X:19416407-19416407 G>C_VVLGKGTYGIVYGGRDLSNQVRIAI
3:33194314-33194314 T>G	0.0	4252	COLORECTAL	-	-	-	-	SUSD5	ENST00000309558,p.K604Q|NM_015551,p.K604Q|uc003cfo.1,p.K604Q	protein_coding	uc003cfo.1	nonsynonymous SNV	exon5	c.A1810C	p.K604Q	VGMVWGYRKCQHKSSVYKLNVGQRQ	VGMVWGYRKCQHQSSVYKLNVGQRQ	2.0	4.0	unscreened	-	4252_3:33194314-33194314 T>G_VGMVWGYRKCQHQSSVYKLNVGQRQ
7:23300108-23300108 A>G	0.0	4252	COLORECTAL	-	-	-	-	GPNMB	NM_001005340,p.K245R|uc003swb.3,p.K245R|ENST00000453162,p.K187R|uc011jyy.2,p.K187R|ENST00000539136,p.K146R|uc011jyz.2,p.K146R|ENST00000381990,p.K245R|ENST00000258733,p.K245R|NM_002510,p.K245R|uc003swc.3,p.K245R	retained_intron, protein_coding, processed_transcript	uc011jyz.2	nonsynonymous SNV	exon4	c.A437G	p.K146R	TDQIPVFVTMFQKNDRNSSDETFLK	TDQIPVFVTMFQRNDRNSSDETFLK	9.0	4.0	unscreened	-	4252_7:23300108-23300108 A>G_TDQIPVFVTMFQRNDRNSSDETFLK
9:43822737-43822737 A>C	0.0	4252	COLORECTAL	-	-	-	-	CNTNAP3B	uc004ada.2,p.S431R|NM_001201380,p.S431R|ENST00000377564,p.S431R|ENST00000479351,p.S431R	protein_coding, processed_transcript, nonsense_mediated_decay	uc004ada.2	nonsynonymous SNV	exon8	c.A1291C	p.S431R	FVLFLKDGKLKLSLFQAGQSPRNVT	FVLFLKDGKLKLRLFQAGQSPRNVT	3.0	3.0	unscreened	-	4252_9:43822737-43822737 A>C_FVLFLKDGKLKLRLFQAGQSPRNVT
19:9073231-9073231 G>T	0.0	4252	COLORECTAL	-	-	-	2	MUC16	uc002mkp.3,p.Q4739K|ENST00000397910,p.Q4739K|NM_024690,p.Q4739K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C14215A	p.Q4739K	DVKDVSQTNPPFQDEASSPSSQAPV	DVKDVSQTNPPFKDEASSPSSQAPV	3.0	8.0	unscreened	-	4252_19:9073231-9073231 G>T_DVKDVSQTNPPFKDEASSPSSQAPV
2:240984588-240984588 A>G	0.0	4252	COLORECTAL	-	-	-	-	OR6B3	NM_173351,p.L301S|uc010zoe.2,p.L301S|ENST00000319423,p.L301S	protein_coding	uc010zoe.2	nonsynonymous SNV	exon1	c.T902C	p.L301S	IYCLRNKEFKNALKKAFGLTSCAVE	IYCLRNKEFKNASKKAFGLTSCAVE	1.0	3.0	unscreened	-	4252_2:240984588-240984588 A>G_IYCLRNKEFKNASKKAFGLTSCAVE
14:75052639-75052639 T>C	0.0	4252	COLORECTAL	-	-	-	-	LTBP2	ENST00000556690,p.S250G|uc001xqa.3,p.S250G|ENST00000261978,p.S250G|NM_000428,p.S250G|ENST00000553939,p.S250G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xqa.3	nonsynonymous SNV	exon3	c.A748G	p.S250G	RWAERSPNLRRSSAAGEGTLARAQP	RWAERSPNLRRSGAAGEGTLARAQP	7.0	5.0	unscreened	-	4252_14:75052639-75052639 T>C_RWAERSPNLRRSGAAGEGTLARAQP
11:3660919-3660919 C>G	0.0	4252	COLORECTAL	-	-	-	-	ART5	ENST00000359918,p.W247S|ENST00000397068,p.W247S|ENST00000425767,p.W128S|NM_053017,p.W247S|NM_001079536,p.W247S|uc001lyc.1,p.W247S|uc001lyb.1,p.W247S	protein_coding	uc001lyc.1	nonsynonymous SNV	exon3	c.G740C	p.W247S	FSQDGAQSLVTLWSYNQTCSHFNCA	FSQDGAQSLVTLSSYNQTCSHFNCA	4.0	5.0	unscreened	-	4252_11:3660919-3660919 C>G_FSQDGAQSLVTLSSYNQTCSHFNCA
7:47694880-47694880 A>T	0.0	4252	COLORECTAL	-	-	-	-	C7orf65	ENST00000408988,p.R2W|uc010kyp.1,p.R2W|NM_001123065,p.R2W	protein_coding	uc010kyp.1	nonsynonymous SNV	exon1	c.A4T	p.R2W	MRMAPTESTEGRRL	MWMAPTESTEGRRL	1.0	4.0	unscreened	-	4252_7:47694880-47694880 A>T_MWMAPTESTEGRRL
17:10436701-10436701 T>G	0.0	4252	COLORECTAL	-	-	-	-	MYH2	NM_017534,p.E781A|ENST00000397183,p.E781A|NM_001100112,p.E781A|uc010coi.3,p.E781A|ENST00000245503,p.E781A|uc002gmp.4,p.E781A	protein_coding	uc010coi.3	nonsynonymous SNV	exon21	c.A2342C	p.E781A	VFFKAGLLGLLEEMRDDKLAQLITR	VFFKAGLLGLLEAMRDDKLAQLITR	1.0	6.0	unscreened	-	4252_17:10436701-10436701 T>G_VFFKAGLLGLLEAMRDDKLAQLITR
1:156779554-156779554 A>C	1.0	4252	COLORECTAL	-	-	-	-	SH2D2A	NM_001161444,p.F205V|uc001fqe.2,p.F187V|NM_001161443,p.F177V|NM_001161441,p.F215V|uc001fqc.1,p.F177V|ENST00000368198,p.F187V|NM_001161442,p.F187V|uc009wsh.2,p.F215V|ENST00000368199,p.F205V|uc001fqd.2,p.F205V|ENST00000392306,p.F215V|NM_003975,p.F205V|uc010phs.1,p.F205V	protein_coding, processed_transcript	uc010phs.1	nonsynonymous SNV	exon6	c.T613G	p.F205V	PAGLSLRTEESNFGSKSQDPNPQYS	PAGLSLRTEESNVGSKSQDPNPQYS	8.0	5.0	-	-	4252_1:156779554-156779554 A>C_PAGLSLRTEESNVGSKSQDPNPQYS
2:74884745-74884745 G>T	1.0	4252	COLORECTAL	-	-	-	-	SEMA4F	uc002sna.2,p.K117N|uc021vjn.2,p.K117N|NM_004263,p.K117N|ENST00000357877,p.K117N|ENST00000420077,p.K117N	protein_coding, processed_transcript, nonsense_mediated_decay	uc021vjn.2	nonsynonymous SNV	exon3	c.G351T	p.K117N	PEAHRQNCRKKGKKEDECHNFVQIL	PEAHRQNCRKKGNKEDECHNFVQIL	6.0	7.0	-	-	4252_2:74884745-74884745 G>T_PEAHRQNCRKKGNKEDECHNFVQIL
2:74884745-74884745 G>T	1.0	4252	COLORECTAL	-	-	-	-	SEMA4F	uc010ysb.2,p.K117N|ENST00000446927,p.K117N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ysb.2	nonsynonymous SNV	exon3	c.G351T	p.K117N	PEAHRQNCRKKGKKEGGSSMLPL	PEAHRQNCRKKGNKEGGSSMLPL	6.0	7.0	-	-	4252_2:74884745-74884745 G>T_PEAHRQNCRKKGNKEGGSSMLPL
7:5967982-5967982 G>T	1.0	4252	COLORECTAL	-	-	-	-	RSPH10B,RSPH10B2	uc011jwk.2,p.T381K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011jwk.2	nonsynonymous SNV	exon11	c.C1142A	p.T381K	MRDPRMIERKSSTRGSIICTSSL	MRDPRMIERKSSKRGSIICTSSL	5.0	6.0	-	-	4252_7:5967982-5967982 G>T_MRDPRMIERKSSKRGSIICTSSL
X:139587108-139587108 G>A	0.0	4252	COLORECTAL	-	-	-	-	SOX3	uc004fbd.1,p.P40S|NM_005634,p.P40S|ENST00000370536,p.P40S	protein_coding	uc004fbd.1	nonsynonymous SNV	exon1	c.C118T	p.P40S	LPFPPDSLAHRPPSSAPTESQGLFT	LPFPPDSLAHRPSSSAPTESQGLFT	1.0	4.0	unscreened	-	4252_X:139587108-139587108 G>A_LPFPPDSLAHRPSSSAPTESQGLFT
3:17051417-17051417 A>C	0.0	4252	COLORECTAL	-	-	-	-	PLCL2	NM_015184,p.E67D|ENST00000432376,p.E67D|uc011awd.2,p.E67D|ENST00000418129,p.E67D|uc010het.1,p.E67D|ENST00000396755,p.E67D	protein_coding, processed_transcript	uc011awd.2	nonsynonymous SNV	exon2	c.A201C	p.E67D	SEKAKIDIKSIKEVRTGKNTDIFRS	SEKAKIDIKSIKDVRTGKNTDIFRS	6.0	4.0	unscreened	-	4252_3:17051417-17051417 A>C_SEKAKIDIKSIKDVRTGKNTDIFRS
20:36869004-36869004 C>T	0.0	4252	COLORECTAL	-	-	-	-	KIAA1755	uc002xhz.1,p.R510Q|NM_001029864,p.R510Q|uc002xhy.1,p.R510Q|ENST00000279024,p.R510Q	retained_intron, protein_coding	uc002xhz.1	nonsynonymous SNV	exon3	c.G1529A	p.R510Q	KVLCSLYSPKPNRAKSLGKAGTTQT	KVLCSLYSPKPNQAKSLGKAGTTQT	6.0	4.0	unscreened	-	4252_20:36869004-36869004 C>T_KVLCSLYSPKPNQAKSLGKAGTTQT
17:61908399-61908399 C>G	1.0	4252	COLORECTAL	-	-	-	-	PSMC5	ENST00000584536,p.Q167E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000584536	nonsynonymous SNV	exon6	c.C499G	p.Q167E	LFEALGIAQPKGQEW	LFEALGIAQPKGEEW	10.0	6.0	unscreened	-	4252_17:61908399-61908399 C>G_LFEALGIAQPKGEEW
2:74884745-74884745 G>T	1.0	4252	COLORECTAL	-	-	-	-	SEMA4F	ENST00000339773,p.K117N|NM_001271661,p.K117N|uc002snc.2,p.K117N|ENST00000453930,p.K117N	protein_coding, processed_transcript, nonsense_mediated_decay	uc002snc.2	nonsynonymous SNV	exon3	c.G351T	p.K117N	PEAHRQNCRKKGKKEGDLGGRKTLQ	PEAHRQNCRKKGNKEGDLGGRKTLQ	6.0	7.0	-	-	4252_2:74884745-74884745 G>T_PEAHRQNCRKKGNKEGDLGGRKTLQ
14:23902801-23902830 GACAAACTCCTGTTTGTCATCAGGCACGAA>-	0.0	4252	COLORECTAL	-	-	-	-	MYH7	uc001wjx.3,p.38_47del|ENST00000355349,p.38_47del|NM_000257,p.38_47del	protein_coding	uc001wjx.3	nonframeshift deletion	exon3	c.112_141del	p.38_47del	AQTRPFDLKKDVFVPDDKQEFVKAK	AQTRPFDLKKDVKAKIVSREGGKVT	2.0	7.0	unscreened	-	4252_14:23902801-23902830 GACAAACTCCTGTTTGTCATCAGGCACGAA>-_AQTRPFDLKKDVKAKIVSREGGKVT
12:4919845-4919845 G>T	0.0	4252	COLORECTAL	-	-	-	-	KCNA6	ENST00000433855,p.R213L|uc021qtr.1,p.R213L|NM_002235,p.R213L|ENST00000280684,p.R213L|uc001qng.3,p.R213L	protein_coding	uc021qtr.1	nonsynonymous SNV	exon1	c.G638T	p.R213L	VDGRGGNNGGVSRVSPVSRGSQEEE	VDGRGGNNGGVSLVSPVSRGSQEEE	1.0	7.0	unscreened	-	4252_12:4919845-4919845 G>T_VDGRGGNNGGVSLVSPVSRGSQEEE
19:47127368-47127368 T>C	0.0	4252	COLORECTAL	-	-	-	-	PTGIR	uc002pex.3,p.S39G|ENST00000291294,p.S39G|ENST00000596260,p.S39G|NM_000960,p.S39G	retained_intron, protein_coding	uc002pex.3	nonsynonymous SNV	exon2	c.A115G	p.S39G	GVVGNGLALGILSARRPARPSAFAV	GVVGNGLALGILGARRPARPSAFAV	6.0	5.0	unscreened	-	4252_19:47127368-47127368 T>C_GVVGNGLALGILGARRPARPSAFAV
7:21469847-21469847 C>G	0.0	4252	COLORECTAL	-	-	-	-	SP4	uc003svb.3,p.S42C|NM_003112,p.S355C|uc003sva.3,p.S355C|ENST00000222584,p.S355C	retained_intron, protein_coding, nonsense_mediated_decay	uc003svb.3	nonsynonymous SNV	exon3	c.C125G	p.S42C	DTGQYASTSASSSERTIEESQTPAA	DTGQYASTSASSCERTIEESQTPAA	4.0	4.0	unscreened	-	4252_7:21469847-21469847 C>G_DTGQYASTSASSCERTIEESQTPAA
2:131521383-131521383 G>A	0.0	4252	COLORECTAL	-	-	-	-	AMER3	uc021voy.1,p.G580R|ENST00000423981,p.G580R|NM_152698,p.G580R|NM_001105193,p.G580R|uc010fms.1,p.G580R|NM_001105194,p.G580R|uc010fmt.1,p.G580R|uc002trw.2,p.G580R|ENST00000321420,p.G580R|uc010fmu.1,p.G580R|uc010fmv.2,p.G580R|NM_001105195,p.G580R	protein_coding	uc021voy.1	nonsynonymous SNV	exon1	c.G1738A	p.G580R	LWAHPGTTGLLAGESKALGGATQGT	LWAHPGTTGLLARESKALGGATQGT	5.0	6.0	-	-	4252_2:131521383-131521383 G>A_LWAHPGTTGLLARESKALGGATQGT
4:47514673-47514673 A>G	0.0	4252	COLORECTAL	-	-	-	-	ATP10D	ENST00000504445,p.K39R|ENST00000273859,p.K39R|uc003gxk.1,p.K39R|NM_020453,p.K39R|uc003gxj.3,p.K39R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gxk.1	nonsynonymous SNV	exon2	c.A116G	p.K39R	PYNYSSLLACGRKSSQTPKLSGRHR	PYNYSSLLACGRRSSQTPKLSGRHR	5.0	4.0	unscreened	-	4252_4:47514673-47514673 A>G_PYNYSSLLACGRRSSQTPKLSGRHR
13:101760057-101760057 C>G	0.0	4252	COLORECTAL	-	-	-	-	NALCN	NM_052867,p.E816D|ENST00000251127,p.E816D|uc001vox.1,p.E816D	retained_intron, protein_coding, processed_transcript	uc001vox.1	nonsynonymous SNV	exon21	c.G2448C	p.E816D	EIKMIQEKKEQAEMKRKVQEEELRE	EIKMIQEKKEQADMKRKVQEEELRE	2.0	4.0	unscreened	-	4252_13:101760057-101760057 C>G_EIKMIQEKKEQADMKRKVQEEELRE
13:24468299-24468299 T>C	0.0	4252	COLORECTAL	-	-	-	-	C1QTNF9B	ENST00000382145,p.S70G|NM_001007537,p.S70G|ENST00000382137,p.S70G|uc010tcw.2,p.S70G|ENST00000382057,p.S70G|ENST00000382140,p.S70G|uc010tcx.2,p.S70G|uc001uoz.1,p.S70G	protein_coding, processed_transcript	uc010tcx.2	nonsynonymous SNV	exon2	c.A208G	p.S70G	PGCPGSPGKDGTSGEKGERGADGKV	PGCPGSPGKDGTGGEKGERGADGKV	4.0	5.0	unscreened	-	4252_13:24468299-24468299 T>C_PGCPGSPGKDGTGGEKGERGADGKV
2:220430214-220430214 G>C	1.0	4258	ENDOMETRIAL	-	-	-	-	OBSL1	uc010fwl.2,p.S719R|ENST00000289656,p.S306R|NM_001173431,p.S719R|ENST00000265318,p.S719R|ENST00000603926,p.S719R|uc002vmi.3,p.S719R|NM_015311,p.S719R|ENST00000373876,p.S719R|ENST00000404537,p.S719R|uc010fwk.3,p.S719R|NM_001173408,p.S719R|ENST00000373873,p.S719R	retained_intron, protein_coding, processed_transcript	uc010fwl.2	nonsynonymous SNV	exon6	c.C2157G	p.S719R	ALTIQESPVHILSPQDRVSLTFTTS	ALTIQESPVHILRPQDRVSLTFTTS	10.0	8.0	unscreened	-	4258_2:220430214-220430214 G>C_ALTIQESPVHILRPQDRVSLTFTTS
7:158424393-158424393 A>G	1.0	4258	ENDOMETRIAL	-	-	-	-	NCAPG2	NM_017760,p.S1133P|NM_001281932,p.S1133P|uc011kwc.1,p.S587P|uc003wnx.1,p.S1133P|ENST00000356309,p.S1133P|ENST00000409423,p.S1133P|ENST00000275830,p.S878P|ENST00000541468,p.S587P|uc003wnv.1,p.S1133P|uc010lqu.1,p.S878P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kwc.1	nonsynonymous SNV	exon15	c.T1759C	p.S587P	EEDSIERFLYESSSRTLGELLNS	EEDSIERFLYESPSRTLGELLNS	8.0	2.0	-	-	4258_7:158424393-158424393 A>G_EEDSIERFLYESPSRTLGELLNS
16:29845289-29845289 T>C	1.0	4258	ENDOMETRIAL	-	-	-	-	MVP	ENST00000563915,p.V160A|NM_001293204,p.V160A|NM_001293205,p.V160A|NM_017458,p.V160A|ENST00000395353,p.V160A|uc002duj.3,p.V160A|NM_005115,p.V160A|ENST00000357402,p.V160A|uc002dui.3,p.V160A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002duj.3	nonsynonymous SNV	exon5	c.T479C	p.V160A	PGTYIPRKEVEVVEIIQATIIRQNQ	PGTYIPRKEVEVAEIIQATIIRQNQ	10.0	3.0	-	-	4258_16:29845289-29845289 T>C_PGTYIPRKEVEVAEIIQATIIRQNQ
11:62415946-62415946 T>G	1.0	4258	ENDOMETRIAL	-	-	-	-	INTS5	NM_030628,p.T536P|ENST00000330574,p.T536P|uc001nud.3,p.T536P	protein_coding	uc001nud.3	nonsynonymous SNV	exon2	c.A1606C	p.T536P	SRARSPEELSLATQLYAGLVVSLSG	SRARSPEELSLAPQLYAGLVVSLSG	8.0	5.0	-	-	4258_11:62415946-62415946 T>G_SRARSPEELSLAPQLYAGLVVSLSG
15:64967089-64967089 C>T	1.0	4258	ENDOMETRIAL	-	-	-	-	ZNF609	uc002ann.3,p.A679V|NM_015042,p.A679V|ENST00000326648,p.A679V	protein_coding, processed_transcript	uc002ann.3	nonsynonymous SNV	exon4	c.C2036T	p.A679V	QIYTFQTATFTAASPGSSSGLTATV	QIYTFQTATFTAVSPGSSSGLTATV	7.0	8.0	-	-	4258_15:64967089-64967089 C>T_QIYTFQTATFTAVSPGSSSGLTATV
4:106345406-106345406 T>A	1.0	4258	ENDOMETRIAL	-	-	-	-	PPA2	ENST00000341695,p.D201V|ENST00000510015,p.D128V|ENST00000432483,p.D99V|NM_006903,p.D172V|uc003hxq.3,p.D108V|ENST00000357415,p.D216V|ENST00000348706,p.D172V|ENST00000380004,p.D183V|ENST00000310267,p.D122V|NM_176866,p.D99V|uc011cfa.1,p.D108V|NM_176869,p.D201V|uc003hxl.3,p.D201V|uc003hxn.3,p.D172V|uc003hxo.3,p.D99V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cfa.1	nonsynonymous SNV	exon6	c.A323T	p.D108V	LGILALIDEGETDWKLIAINANDPE	LGILALIDEGETVWKLIAINANDPE	10.0	1.0	unscreened	-	4258_4:106345406-106345406 T>A_LGILALIDEGETVWKLIAINANDPE
17:65870945-65870945 A>T	1.0	4258	ENDOMETRIAL	-	-	-	-	BPTF	uc002jge.3,p.E558V|ENST00000544778,p.E558V|uc002jgf.3,p.E558V|ENST00000306378,p.E558V|ENST00000424123,p.E419V|NM_004459,p.E558V|ENST00000321892,p.E558V|NM_182641,p.E558V|uc010wqm.1,p.E558V|ENST00000335221,p.E558V	retained_intron, protein_coding, processed_transcript	uc010wqm.1	nonsynonymous SNV	exon4	c.A1673T	p.E558V	KSFLAAANEEILESIRAKKGDIDNV	KSFLAAANEEILVSIRAKKGDIDNV	10.0	4.0	-	-	4258_17:65870945-65870945 A>T_KSFLAAANEEILVSIRAKKGDIDNV
14:53522622-53522622 T>A	1.0	4258	ENDOMETRIAL	-	-	-	-	DDHD1	ENST00000395606,p.R674S|uc001xai.3,p.R667S|uc001xag.3,p.R249S|NM_030637,p.R667S|uc001xak.1,p.R63S|NM_001160147,p.R674S|ENST00000357758,p.R667S|ENST00000323669,p.R667S|uc001xah.3,p.R667S|NM_001160148,p.R667S|uc001xaj.3,p.R674S	retained_intron, protein_coding, processed_transcript	uc001xak.1	nonsynonymous SNV	exon3	c.A189T	p.R63S	LNIFHPTDPVAYRLEPLILKHYSNI	LNIFHPTDPVAYSLEPLILKHYSNI	6.0	6.0	-	-	4258_14:53522622-53522622 T>A_LNIFHPTDPVAYSLEPLILKHYSNI
2:136630367-136630367 C>T	1.0	4258	ENDOMETRIAL	-	-	-	-	MCM6	uc002tuw.4,p.E52K|NM_005915,p.E52K|ENST00000264156,p.E52K	retained_intron, protein_coding, processed_transcript	uc002tuw.4	nonsynonymous SNV	exon2	c.G154A	p.E52K	SDGEIKYLQLAEELIRPERNTLVVS	SDGEIKYLQLAEKLIRPERNTLVVS	9.0	7.0	CD8	-	4258_2:136630367-136630367 C>T_SDGEIKYLQLAEKLIRPERNTLVVS
10:120085701-120085701 C>G	1.0	4258	ENDOMETRIAL	-	-	-	-	FAM204A	ENST00000470476,p.A170P	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000470476	nonsynonymous SNV	exon6	c.G508C	p.A170P	IDQAVEEWNIEKAEELSNQLATREE	IDQAVEEWNIEKPEELSNQLATREE	8.0	10.0	-	-	4258_10:120085701-120085701 C>G_IDQAVEEWNIEKPEELSNQLATREE
1:111436955-111436969 ATCCTGCTGCTGATT>-	0.0	4258	ENDOMETRIAL	-	-	-	-	CD53	uc010owa.2,p.87_91del|ENST00000271324,p.87_91del|NM_000560,p.87_91del|uc001dzw.3,p.87_91del|NM_001040033,p.87_91del|ENST00000429072,p.87_91del|uc001dzx.3,p.87_91del	protein_coding, processed_transcript	uc010owa.2	nonframeshift deletion	exon4	c.259_273del	p.87_91del	IKENKCLLMSFFILLLIILLAEVTL	IKENKCLLMSFFILLAEVTLAILLF	9.0	6.0	-	-	4258_1:111436955-111436969 ATCCTGCTGCTGATT>-_IKENKCLLMSFFILLAEVTLAILLF
22:22893424-22893424 C>A	1.0	4258	ENDOMETRIAL	-	-	-	-	PRAME	uc002zwi.3,p.D37Y|NM_001291719,p.D21Y|uc002zwh.3,p.D37Y|uc011air.2,p.D21Y|ENST00000439106,p.D37Y|ENST00000398741,p.D37Y|NM_001291715,p.D37Y|NM_206953,p.D37Y|uc002zwk.3,p.D37Y|uc002zwf.3,p.D37Y|NM_206954,p.D37Y|ENST00000403441,p.D37Y|ENST00000539862,p.D21Y|NM_001291717,p.D21Y|NM_206955,p.D37Y|NM_206956,p.D37Y|uc002zwg.3,p.D37Y|uc002zwj.3,p.D37Y|uc010gtr.3,p.D37Y|NM_006115,p.D37Y|ENST00000424204,p.D21Y|ENST00000406503,p.D37Y|NM_001291716,p.D37Y|ENST00000402697,p.D37Y|ENST00000543184,p.D37Y|ENST00000420709,p.D37Y|ENST00000398743,p.D37Y|ENST00000405655,p.D37Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011air.2	nonsynonymous SNV	exon2	c.G61T	p.D21Y	RLVELAGQSLLKDEALAIAALELLP	RLVELAGQSLLKYEALAIAALELLP	10.0	8.0	-	-	4258_22:22893424-22893424 C>A_RLVELAGQSLLKYEALAIAALELLP
10:120085701-120085701 C>G	1.0	4258	ENDOMETRIAL	-	-	-	-	FAM204A	uc001ldo.2,p.A170P|ENST00000369172,p.A170P|NM_001134672,p.A170P|uc010qss.1,p.A170P|ENST00000369183,p.A170P|NM_022063,p.A170P	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qss.1	nonsynonymous SNV	exon6	c.G508C	p.A170P	IDQAVEEWNIEKAEELSNQLATREL	IDQAVEEWNIEKPEELSNQLATREL	8.0	10.0	-	-	4258_10:120085701-120085701 C>G_IDQAVEEWNIEKPEELSNQLATREL
19:23542311-23542311 G>C	1.0	4258	ENDOMETRIAL	-	-	-	-	ZNF91	ENST00000300619,p.T1157S|NM_003430,p.T1157S|uc002nre.3,p.T1157S|ENST00000397082,p.T1125S|NM_001300951,p.T1125S|uc010xrj.2,p.T1125S	retained_intron, protein_coding, processed_transcript	uc010xrj.2	nonsynonymous SNV	exon3	c.C3374G	p.T1125S	QSSILTNHKKIHTITPVIPLLWEAE	QSSILTNHKKIHSITPVIPLLWEAE	8.0	4.0	-	-	4258_19:23542311-23542311 G>C_QSSILTNHKKIHSITPVIPLLWEAE
7:77408022-77408022 A>G	1.0	4258	ENDOMETRIAL	-	-	-	-	RSBN1L	ENST00000441514,p.I164M	retained_intron, protein_coding	ENST00000441514	nonsynonymous SNV	exon4	c.A492G	p.I164M	CMQFSMAYSAQIISLRGGHFSEYSY	CMQFSMAYSAQIMSLRGGHFSEYSY	8.0	4.0	-	-	4258_7:77408022-77408022 A>G_CMQFSMAYSAQIMSLRGGHFSEYSY
2:182765571-182765571 G>T	1.0	4258	ENDOMETRIAL	-	-	-	-	SSFA2	uc010zfo.2,p.V65L|ENST00000320370,p.V218L|uc002uoj.3,p.V218L|uc002uoh.3,p.V218L|ENST00000428267,p.V65L|NM_001130445,p.V218L|ENST00000431877,p.V218L|uc002uoi.3,p.V218L|NM_001287504,p.V65L|NM_006751,p.V218L|ENST00000409001,p.V218L|NM_001287503,p.V218L|uc002uol.3,p.V65L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zfo.2	nonsynonymous SNV	exon6	c.G193T	p.V65L	NSSSFAKGIDIKVFLSAQMQRMEVE	NSSSFAKGIDIKLFLSAQMQRMEVE	9.0	9.0	-	-	4258_2:182765571-182765571 G>T_NSSSFAKGIDIKLFLSAQMQRMEVE
X:18923977-18923977 C>A	1.0	4258	ENDOMETRIAL	-	-	-	-	PHKA2	NM_000292,p.G936V|uc004cyv.4,p.G936V|ENST00000379942,p.G936V	protein_coding, processed_transcript	uc004cyv.4	nonsynonymous SNV	exon26	c.G2807T	p.G936V	MATELARSLNCSGEEASESLMNLSP	MATELARSLNCSVEEASESLMNLSP	8.0	10.0	-	-	4258_X:18923977-18923977 C>A_MATELARSLNCSVEEASESLMNLSP
4:155467006-155467006 C>T	1.0	4258	ENDOMETRIAL	-	-	-	-	PLRG1	ENST00000506192,p.S128N	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000506192	nonsynonymous SNV	exon5	c.G383A	p.S128N	VNTDILGLLTVHSLQR	VNTDILGLLTVHNLQR	9.0	1.0	unscreened	-	4258_4:155467006-155467006 C>T_VNTDILGLLTVHNLQR
17:7577120-7577120 C>T	1.0	4258	ENDOMETRIAL	0.0005	-	ID=COSM99729,COSM1645335,COSM3356963,COSM10660;OCCURENCE=1(vulva),32(oesophagus),44(upper_aerodigestive_tract),4(bone),1(thymus),45(central_nervous_system),22(stomach),1(cervix),27(haematopoietic_and_lymphoid_tissue),42(lung),4(penis),8(endometrium),57(ovary),1(soft_tissue),1(fallopian_tube),5(biliary_tract),144(large_intestine),19(urinary_tract),2(genital_tract),4(liver),25(pancreas),70(breast),8(skin)	1	TP53	NM_001276696,p.R234H|NM_001276697,p.R114H|ENST00000445888,p.R273H|ENST00000359597,p.R273H|ENST00000455263,p.R273H|uc002gij.3,p.R234H|uc031qyq.1,p.R234H|uc010cng.2,p.R114H|NM_001126113,p.R273H|ENST00000420246,p.R273H|NM_001276699,p.R114H|NM_001126118,p.R234H|NM_000546,p.R273H|NM_001126114,p.R273H|uc010cnf.2,p.R114H|NM_001276698,p.R114H|ENST00000269305,p.R273H|NM_001126112,p.R273H|uc002gih.3,p.R273H|NM_001126116,p.R141H|ENST00000509690,p.R141H|NM_001126117,p.R141H|NM_001276695,p.R234H|uc002gii.2,p.R114H|NM_001276761,p.R234H|NM_001276760,p.R234H|NM_001126115,p.R141H	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon7	c.G701A	p.R234H	SGNLLGRNSFEVRVCACPGRDRRTE	SGNLLGRNSFEVHVCACPGRDRRTE	10.0	10.0	-	-	4258_17:7577120-7577120 C>T_SGNLLGRNSFEVHVCACPGRDRRTE
6:79657468-79657468 G>A	1.0	4258	ENDOMETRIAL	-	-	-	-	PHIP	uc003pio.4,p.P246S|uc003piq.3,p.P384S|ENST00000275034,p.P1360S|NM_017934,p.P1360S|uc003pir.3,p.P1360S|uc011dyp.2,p.P1359S	protein_coding, processed_transcript	uc011dyp.2	nonsynonymous SNV	exon36	c.C4075T	p.P1359S	LEYPDYRDIIDTPMDFATVRETLEA	LEYPDYRDIIDTSMDFATVRETLEA	9.0	7.0	-	-	4258_6:79657468-79657468 G>A_LEYPDYRDIIDTSMDFATVRETLEA
8:95406001-95406028 GATGGGTTCTTCATATATTTTCCTATAA>-	0.0	4258	ENDOMETRIAL	-	-	-	-	RAD54B	uc010may.2,p.S303fs|uc003ygk.3,p.S487fs|NM_012415,p.S487fs|NM_001205263,p.S303fs|ENST00000336148,p.S487fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010may.2	frameshift deletion	exon7	c.909_936del	p.S303fs	DFVNPGILGSLSSYRKIYEEPIILS	DFVNPGILGSLSSFYRENLLLLRKKRS	7.0	7.0	unscreened	-	4258_8:95406001-95406028 GATGGGTTCTTCATATATTTTCCTATAA>-_DFVNPGILGSLSSFYRENLLLLRKKRS
1:117644075-117644075 G>C	1.0	4258	ENDOMETRIAL	-	-	-	-	TTF2	ENST00000369466,p.V1140L|ENST00000427271,p.V121L|uc001egy.3,p.V1140L|NM_003594,p.V1140L	protein_coding, processed_transcript	uc001egy.3	nonsynonymous SNV	exon23	c.G3418C	p.V1140L	QLQEKKKDLAKQVLSGSGESVTKLT	QLQEKKKDLAKQLLSGSGESVTKLT	8.0	6.0	-	-	4258_1:117644075-117644075 G>C_QLQEKKKDLAKQLLSGSGESVTKLT
3:132278776-132278784 ATCATTGCA>-	0.0	4258	ENDOMETRIAL	-	-	-	-	ACAD11	uc003eov.4,p.707_710del|ENST00000264990,p.707_710del|ENST00000355458,p.603_606del|ENST00000545291,p.232_235del|NM_032169,p.707_710del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003eov.4	nonframeshift deletion	exon19	c.2121_2129del	p.707_710del	MDTLGSAGAKKEIAMIKVAAPRAVS	MDTLGSAGAKKEIKVAAPRAVSKIV	6.0	6.0	-	-	4258_3:132278776-132278784 ATCATTGCA>-_MDTLGSAGAKKEIKVAAPRAVSKIV
16:15045766-15045766 C>T	1.0	4258	ENDOMETRIAL	-	-	-	-	NPIPA1	ENST00000328085,p.L313F|uc002dcy.4,p.L313F|NM_006985,p.L313F	retained_intron, protein_coding, processed_transcript	uc002dcy.4	nonsynonymous SNV	exon8	c.C937T	p.L313F	ADDNLKTPPECLLTPLPPSAPPSVD	ADDNLKTPPECLFTPLPPSAPPSVD	8.0	3.0	unscreened	-	4258_16:15045766-15045766 C>T_ADDNLKTPPECLFTPLPPSAPPSVD
7:36320796-36320796 G>T	0.0	4258	ENDOMETRIAL	-	-	-	-	EEPD1	uc003tfa.3,p.A335S|ENST00000534978,p.A335S|NM_030636,p.A335S|ENST00000242108,p.A335S	retained_intron, protein_coding	uc003tfa.3	nonsynonymous SNV	exon4	c.G1003T	p.A335S	IRKWKGPRGCWKAVVAEKPSSQLQK	IRKWKGPRGCWKSVVAEKPSSQLQK	7.0	10.0	-	-	4258_7:36320796-36320796 G>T_IRKWKGPRGCWKSVVAEKPSSQLQK
17:1558696-1558696 C>A	1.0	4258	ENDOMETRIAL	-	-	-	-	PRPF8	uc002fte.3,p.V1979F|ENST00000304992,p.V1979F|NM_006445,p.V1979F|ENST00000572621,p.V1979F	retained_intron, protein_coding, processed_transcript	uc002fte.3	nonsynonymous SNV	exon37	c.G5935T	p.V1979F	IWPTLTDEEWIKVEVQLKDLILADY	IWPTLTDEEWIKFEVQLKDLILADY	10.0	5.0	-	-	4258_17:1558696-1558696 C>A_IWPTLTDEEWIKFEVQLKDLILADY
17:37596644-37596644 G>C	1.0	4258	ENDOMETRIAL	-	-	-	-	MED1	uc002hru.2,p.P132A|ENST00000300651,p.P132A|ENST00000394287,p.P132A|NM_004774,p.P132A|uc002hrv.4,p.P132A	retained_intron, protein_coding, nonsense_mediated_decay	uc002hrv.4	nonsynonymous SNV	exon5	c.C394G	p.P132A	LCDVKVAHHGENPVSCPELVQQLRE	LCDVKVAHHGENAVSCPELVQQLRE	7.0	10.0	-	-	4258_17:37596644-37596644 G>C_LCDVKVAHHGENAVSCPELVQQLRE
7:117828410-117828410 G>A	1.0	4258	ENDOMETRIAL	-	-	-	-	LSM8	ENST00000411938,p.G62R|ENST00000424702,p.G51R|NM_016200,p.G51R|uc003vjg.3,p.G51R|ENST00000422760,p.G30R|ENST00000249299,p.G51R	protein_coding	uc003vjg.3	nonsynonymous SNV	exon3	c.G151A	p.G51R	DESHERVFSSSQGVEQVVLGLYIVR	DESHERVFSSSQRVEQVVLGLYIVR	10.0	7.0	-	-	4258_7:117828410-117828410 G>A_DESHERVFSSSQRVEQVVLGLYIVR
9:79954583-79954583 A>G	0.0	4258	ENDOMETRIAL	-	-	-	-	VPS13A	uc004aks.3,p.D2138G|NM_001018037,p.D2138G|NM_033305,p.D2177G|uc004akr.3,p.D2177G|uc004akp.4,p.D2177G|ENST00000360280,p.D2177G|ENST00000376636,p.D2138G|NM_001018038,p.D2177G|ENST00000357409,p.D2177G|ENST00000376634,p.D2177G|NM_015186,p.D2177G|uc004akq.4,p.D2177G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004aks.3	nonsynonymous SNV	exon47	c.A6413G	p.D2138G	WKSEYHIKPNQQDISFVSFTCVTEM	WKSEYHIKPNQQGISFVSFTCVTEM	7.0	6.0	-	-	4258_9:79954583-79954583 A>G_WKSEYHIKPNQQGISFVSFTCVTEM
6:46826580-46826580 ->A	0.0	4258	ENDOMETRIAL	-	-	-	-	GPR116	ENST00000362015,p.V1020fs|uc003oyp.3,p.V878fs|uc011dwj.1,p.V575fs|uc003oyq.3,p.V1020fs|NM_015234,p.V1020fs|uc003oyo.3,p.V1020fs|uc010jzi.1,p.V692fs|NM_001098518,p.V1020fs|uc011dwk.1,p.V449fs|ENST00000283296,p.V1020fs|ENST00000265417,p.V1020fs|ENST00000456426,p.V878fs|ENST00000545669,p.V449fs	protein_coding, processed_transcript	uc011dwk.1	frameshift insertion	exon7	c.1346dupT	p.V449fs	LGILLDIISYVGVGFSILSLAACLV	LGILLDIISYVGVGLFHLELGSLSSCGSCGVEIGDQEPDFLYAPHLHSEYRCLPSGRQHLVHCGRCHPGQSLHTLQDSLCGCHLLHPLLLPQRLLLDADTGPHAVLSPGFHSA	5.0	4.0	unscreened	-	4258_6:46826580-46826580 ->A_LGILLDIISYVGVGLFHLELGSLSSCGSCGVEIGDQEPDFLYAPHLHSEYRCLPSGRQHLVHCGRCHPGQSLHTLQDSLCGCHLLHPLLLPQRLLLDADTGPHAVLSPGFHSA
15:85326298-85326298 A>G	1.0	4258	ENDOMETRIAL	-	-	-	-	ZNF592	ENST00000560079,p.K131R|NM_014630,p.K131R|ENST00000559607,p.K131R|uc002bld.3,p.K131R|ENST00000299927,p.K131R	protein_coding, nonsense_mediated_decay	uc002bld.3	nonsynonymous SNV	exon4	c.A392G	p.K131R	SARSFPGKLEPPKSEPLPTFNQFSP	SARSFPGKLEPPRSEPLPTFNQFSP	7.0	4.0	-	-	4258_15:85326298-85326298 A>G_SARSFPGKLEPPRSEPLPTFNQFSP
19:15296174-15296174 G>C	0.0	4258	ENDOMETRIAL	-	-	-	-	NOTCH3	uc002nan.3,p.S730R|ENST00000263388,p.S730R|ENST00000601011,p.S729R|NM_000435,p.S730R|uc002nao.1,p.S730R	retained_intron, protein_coding, nonsense_mediated_decay	uc002nao.1	nonsynonymous SNV	exon14	c.C2190G	p.S730R	CVCEPGWSGPRCSQSLARDACESQP	CVCEPGWSGPRCRQSLARDACESQP	7.0	4.0	-	-	4258_19:15296174-15296174 G>C_CVCEPGWSGPRCRQSLARDACESQP
20:62124571-62124571 C>A	0.0	4258	ENDOMETRIAL	-	-	-	-	EEF1A2	uc002yfe.2,p.A231S|ENST00000217182,p.A231S|ENST00000298049,p.A231S|NM_001958,p.A231S	protein_coding	uc002yfe.2	nonsynonymous SNV	exon5	c.G691T	p.A231S	KEGNASGVSLLEALDTILPPTRPTD	KEGNASGVSLLESLDTILPPTRPTD	7.0	8.0	-	-	4258_20:62124571-62124571 C>A_KEGNASGVSLLESLDTILPPTRPTD
1:228433168-228433168 A>G	1.0	4258	ENDOMETRIAL	-	-	-	-	OBSCN	uc009xez.2,p.E1179G|uc001hsn.4,p.E1179G|ENST00000422127,p.E1179G|ENST00000284548,p.E1179G|NM_052843,p.E1179G|ENST00000570156,p.E1271G|NM_001271223,p.E1271G|NM_001098623,p.E1179G|uc001hsq.2,p.E1271G	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon12	c.A3536G	p.E1179G	AKEQSVHNEVQAEAGTTAMLSCEVA	AKEQSVHNEVQAGAGTTAMLSCEVA	8.0	9.0	-	-	4258_1:228433168-228433168 A>G_AKEQSVHNEVQAGAGTTAMLSCEVA
8:68140351-68140351 C>A	1.0	4258	ENDOMETRIAL	-	-	-	-	ARFGEF1	NM_006421,p.W1146C|ENST00000262215,p.W1146C|uc003xxl.1,p.W600C|ENST00000520381,p.W600C|uc003xxo.2,p.W1146C|uc003xxn.2,p.W129C	retained_intron, protein_coding, processed_transcript	uc003xxo.2	nonsynonymous SNV	exon25	c.G3438T	p.W1146C	RLDGNAIVDFVRWLCAVSMDELLST	RLDGNAIVDFVRCLCAVSMDELLST	9.0	6.0	-	-	4258_8:68140351-68140351 C>A_RLDGNAIVDFVRCLCAVSMDELLST
4:39219670-39219670 A>T	0.0	4258	ENDOMETRIAL	-	-	-	-	WDR19	ENST00000399820,p.K475M|uc003gtv.3,p.K475M|NM_025132,p.K475M|ENST00000288634,p.K315M|uc003gtw.1,p.K72M|uc011byi.2,p.K315M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011byi.2	nonsynonymous SNV	exon13	c.A944T	p.K315M	ERETRLFPAVDDKCRILCHALTSDF	ERETRLFPAVDDMCRILCHALTSDF	9.0	1.0	unscreened	-	4258_4:39219670-39219670 A>T_ERETRLFPAVDDMCRILCHALTSDF
8:71520386-71520386 C>T	0.0	4258	ENDOMETRIAL	-	-	-	-	TRAM1	uc003xyo.2,p.E17K|ENST00000262213,p.E17K|NM_014294,p.E17K	protein_coding, processed_transcript	uc003xyo.2	nonsynonymous SNV	exon1	c.G49A	p.E17K	KKSTKSPPVLSHEFVLQNHADIVSC	KKSTKSPPVLSHKFVLQNHADIVSC	9.0	2.0	unscreened	-	4258_8:71520386-71520386 C>T_KKSTKSPPVLSHKFVLQNHADIVSC
4:39219670-39219670 A>T	0.0	4258	ENDOMETRIAL	-	-	-	-	WDR19	uc003gtu.1,p.S474C|ENST00000506503,p.S474C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gtu.1	nonsynonymous SNV	exon14	c.A1420T	p.S474C	NVRLGFSQQWMISAVSYAMP	NVRLGFSQQWMICAVSYAMP	9.0	1.0	unscreened	-	4258_4:39219670-39219670 A>T_NVRLGFSQQWMICAVSYAMP
12:120591087-120591087 T>A	1.0	4258	ENDOMETRIAL	-	-	-	-	GCN1L1	ENST00000300648,p.D1331V|NM_006836,p.D1331V|uc001txo.3,p.D1331V	retained_intron, protein_coding	uc001txo.3	nonsynonymous SNV	exon33	c.A3992T	p.D1331V	VVVLMGSLAKHLDKSDPKVKPIVAK	VVVLMGSLAKHLVKSDPKVKPIVAK	8.0	10.0	unscreened	-	4258_12:120591087-120591087 T>A_VVVLMGSLAKHLVKSDPKVKPIVAK
20:44638617-44638617 G>T	0.0	4258	ENDOMETRIAL	-	-	-	-	MMP9	NM_004994,p.G84V|uc002xqz.3,p.G84V|ENST00000372330,p.G84V	protein_coding	uc002xqz.3	nonsynonymous SNV	exon2	c.G251T	p.G84V	LLLQKQLSLPETGELDSATLKAMRT	LLLQKQLSLPETVELDSATLKAMRT	9.0	4.0	-	-	4258_20:44638617-44638617 G>T_LLLQKQLSLPETVELDSATLKAMRT
3:47042617-47042617 C>G	0.0	4258	ENDOMETRIAL	-	-	-	-	NBEAL2	NM_015175,p.Q1478E|uc003cqp.3,p.Q1478E|ENST00000292309,p.Q1294E|ENST00000450053,p.Q1478E|uc010hjm.2,p.Q855E	retained_intron, protein_coding, nonsense_mediated_decay	uc010hjm.2	nonsynonymous SNV	exon14	c.C2563G	p.Q855E	WRERGQVFSVLTQLGASATLVRPPD	WRERGQVFSVLTELGASATLVRPPD	8.0	7.0	-	-	4258_3:47042617-47042617 C>G_WRERGQVFSVLTELGASATLVRPPD
13:29001963-29001963 C>T	0.0	4258	ENDOMETRIAL	-	-	ID=COSM1649041,COSM1140369,COSM550884;OCCURENCE=1(lung)	-	FLT1	uc010tdp.1,p.G401E|ENST00000539099,p.G401E|uc001usb.3,p.G401E|NM_001160030,p.G401E|NM_001160031,p.G401E|ENST00000282397,p.G401E|NM_001159920,p.G401E|NM_002019,p.G401E|ENST00000541932,p.G401E|uc001usc.3,p.G401E|uc010aar.1,p.G401E	protein_coding	uc010tdp.1	nonsynonymous SNV	exon9	c.G1202A	p.G401E	SLIIKDVTEEDAGNYTILLSIKQSN	SLIIKDVTEEDAENYTILLSIKQSN	5.0	2.0	-	-	4258_13:29001963-29001963 C>T_SLIIKDVTEEDAENYTILLSIKQSN
11:66816103-66816103 G>C	1.0	4258	ENDOMETRIAL	-	-	-	-	SYT12	ENST00000525457,p.G381R|ENST00000527043,p.G381R|NM_177963,p.G381R|uc009yrl.3,p.G381R|ENST00000393946,p.G381R|uc001oju.3,p.G381R|NM_001177880,p.G381R	retained_intron, protein_coding, processed_transcript	uc009yrl.3	nonsynonymous SNV	exon8	c.G1141C	p.G381R	RVTVAESSSDGRGDNVGHVIIGPSA	RVTVAESSSDGRRDNVGHVIIGPSA	6.0	5.0	-	-	4258_11:66816103-66816103 G>C_RVTVAESSSDGRRDNVGHVIIGPSA
11:88300491-88300491 G>T	0.0	4258	ENDOMETRIAL	-	-	-	-	GRM5	ENST00000418177,p.A787D|ENST00000455756,p.A787D|ENST00000393297,p.A787D|uc009yvm.3,p.A787D|NM_000842,p.A787D|ENST00000305447,p.A787D|ENST00000305432,p.A787D|NM_001143831,p.A787D|uc001pcq.3,p.A787D	protein_coding	uc009yvm.3	nonsynonymous SNV	exon8	c.C2360A	p.A787D	AFTMYTTCIIWLAFVPIYFGSNYKI	AFTMYTTCIIWLDFVPIYFGSNYKI	1.0	9.0	-	-	4258_11:88300491-88300491 G>T_AFTMYTTCIIWLDFVPIYFGSNYKI
17:7320951-7320951 C>T	0.0	4258	ENDOMETRIAL	-	-	-	-	NLGN2	NM_020795,p.P781S|uc002ggt.1,p.P781S|ENST00000302926,p.P781S|ENST00000575301,p.P781S	protein_coding, processed_transcript	uc002ggt.1	nonsynonymous SNV	exon7	c.C2341T	p.P781S	YTLALRRAPDDVPLLAPGALTLLPS	YTLALRRAPDDVSLLAPGALTLLPS	8.0	2.0	unscreened	-	4258_17:7320951-7320951 C>T_YTLALRRAPDDVSLLAPGALTLLPS
13:61987889-61987889 G>T	0.0	4258	ENDOMETRIAL	-	-	-	-	PCDH20	ENST00000409204,p.P115T|uc001vid.4,p.P115T|uc010thj.2,p.P115T|ENST00000409186,p.P115T|NM_022843,p.P115T	protein_coding, processed_transcript	uc010thj.2	nonsynonymous SNV	exon5	c.C343A	p.P115T	SQLPERTGAEWNPPLSFSLASRGLS	SQLPERTGAEWNTPLSFSLASRGLS	1.0	1.0	unscreened	-	4258_13:61987889-61987889 G>T_SQLPERTGAEWNTPLSFSLASRGLS
10:64575636-64575636 T>A	0.0	4258	ENDOMETRIAL	-	-	-	-	EGR2	uc001jmi.3,p.N52Y|uc009xph.3,p.N52Y|uc010qim.2,p.N52Y|uc010qio.2,p.N65Y|ENST00000242480,p.N52Y|NM_001136178,p.N52Y|NM_001136177,p.N52Y|NM_000399,p.N52Y|ENST00000439032,p.N52Y	protein_coding, processed_transcript	uc010qio.2	nonsynonymous SNV	exon2	c.A193T	p.N65Y	PNAELGGPFDQMNGVAGDGMINIDM	PNAELGGPFDQMYGVAGDGMINIDM	6.0	9.0	-	-	4258_10:64575636-64575636 T>A_PNAELGGPFDQMYGVAGDGMINIDM
1:147597264-147597264 G>C	0.0	4258	ENDOMETRIAL	-	rs3983212	-	-	NBPF11	uc010ozy.3,p.L120V|NM_001101663,p.L66V|NM_183372,p.L120V	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ozy.3	nonsynonymous SNV	exon6	c.C358G	p.L120V	RQKKYKYEECKDLIKFMLRNERQFK	RQKKYKYEECKDVIKFMLRNERQFK	6.0	1.0	unscreened	-	4258_1:147597264-147597264 G>C_RQKKYKYEECKDVIKFMLRNERQFK
1:147597264-147597264 G>C	0.0	4258	ENDOMETRIAL	-	rs3983212	-	-	NBPF11	ENST00000474625,p.L66V|ENST00000369228,p.L66V|uc010ozx.2,p.L66V	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ozx.2	nonsynonymous SNV	exon3	c.C196G	p.L66V	RHKKYKYEECKDLIKFMLRNERQFK	RHKKYKYEECKDVIKFMLRNERQFK	6.0	1.0	unscreened	-	4258_1:147597264-147597264 G>C_RHKKYKYEECKDVIKFMLRNERQFK
17:26687593-26687593 A>C	1.0	4258	ENDOMETRIAL	-	-	-	-	TMEM199	uc010wah.1,p.Q139H|uc002hba.3,p.Q139H|ENST00000292114,p.Q139H|NM_152464,p.Q139H|ENST00000509083,p.Q139H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wah.1	nonsynonymous SNV	exon4	c.A417C	p.Q139H	TRHGGTLSDLGKQVRSLKALVITIF	TRHGGTLSDLGKHVRSLKALVITIF	8.0	7.0	-	-	4258_17:26687593-26687593 A>C_TRHGGTLSDLGKHVRSLKALVITIF
13:61987888-61987888 G>T	0.0	4258	ENDOMETRIAL	-	-	-	-	PCDH20	uc001vid.4,p.P115H|NM_022843,p.P115H|ENST00000409204,p.P115H|uc010thj.2,p.P115H|ENST00000409186,p.P115H	protein_coding, processed_transcript	uc010thj.2	nonsynonymous SNV	exon5	c.C344A	p.P115H	SQLPERTGAEWNPPLSFSLASRGLS	SQLPERTGAEWNHPLSFSLASRGLS	1.0	1.0	unscreened	-	4258_13:61987888-61987888 G>T_SQLPERTGAEWNHPLSFSLASRGLS
1:196643034-196643034 C>A	0.0	4258	ENDOMETRIAL	-	-	-	-	CFH	uc009wyx.3,p.L98I|NM_000186,p.L98I|uc001gtj.4,p.L98I|ENST00000439155,p.L98I|uc009wyw.3,p.L98I|ENST00000367429,p.L98I|uc001gti.4,p.L98I|NM_001014975,p.L98I|ENST00000359637,p.L98I	retained_intron, protein_coding, ambiguous_orf	uc009wyx.3	nonsynonymous SNV	exon3	c.C292A	p.L98I	GHPGDTPFGTFTLTGGNVFEYGVKA	GHPGDTPFGTFTITGGNVFEYGVKA	8.0	4.0	-	-	4258_1:196643034-196643034 C>A_GHPGDTPFGTFTITGGNVFEYGVKA
2:145182380-145182380 G>A	0.0	4258	ENDOMETRIAL	-	-	-	-	ZEB2	ENST00000409211,p.A129V	retained_intron, protein_coding, processed_transcript	ENST00000409211	nonsynonymous SNV	exon4	c.C386T	p.A129V	YDTMGPEATIQTAINNGTG	YDTMGPEATIQTVINNGTG	6.0	2.0	unscreened	-	4258_2:145182380-145182380 G>A_YDTMGPEATIQTVINNGTG
8:56015500-56015500 ->CACCA	0.0	4258	ENDOMETRIAL	-	-	-	-	XKR4	NM_052898,p.F151fs|uc003xsf.3,p.F151fs|ENST00000327381,p.F151fs	protein_coding	uc003xsf.3	frameshift insertion	exon1	c.452_453insCACCA	p.F151fs	RGQRWWFGLTLFFVVLGSLSVQVFS	RGQRWWFGLTLFFTTWCSALCRCKCSASAGLCTISAPRTAPRPLLPPAARSLEPIARRWSAVGLQPGKARLVLPRRKGKHLTPARATSPRPTAAATAAGLPGPVASTGLRPAPSASGSCSHSSTSCSSGKSGDISTQYT	3.0	7.0	unscreened	-	4258_8:56015500-56015500 ->CACCA_RGQRWWFGLTLFFTTWCSALCRCKCSASAGLCTISAPRTAPRPLLPPAARSLEPIARRWSAVGLQPGKARLVLPRRKGKHLTPARATSPRPTAAATAAGLPGPVASTGLRPAPSASGSCSHSSTSCSSGKSGDISTQYT
1:92263028-92263028 C>A	0.0	4258	ENDOMETRIAL	-	-	-	-	TGFBR3	NM_001195684,p.G21V|ENST00000533089,p.G21V|ENST00000525962,p.G21V|ENST00000212355,p.G21V|uc001doi.3,p.G21V|NM_001195683,p.G21V|ENST00000370399,p.G21V|ENST00000417833,p.G21V|ENST00000465892,p.G21V|uc001doj.3,p.G21V|NM_003243,p.G21V|uc001doh.3,p.G21V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001doj.3	nonsynonymous SNV	exon4	c.G62T	p.G21V	IFALMSSCLATAGPEPGALCELSPV	IFALMSSCLATAVPEPGALCELSPV	6.0	8.0	-	-	4258_1:92263028-92263028 C>A_IFALMSSCLATAVPEPGALCELSPV
14:20784558-20784558 C>A	1.0	4258	ENDOMETRIAL	-	-	-	1	CCNB1IP1	uc001vwz.4,p.S42I|uc001vwx.4,p.S42I|ENST00000398169,p.S42I|ENST00000556854,p.S42I|ENST00000398163,p.S42I|ENST00000353689,p.S42I|ENST00000437553,p.S42I|uc001vwy.4,p.S42I|NM_182849,p.S42I|NM_182852,p.S42I|uc021rnp.2,p.S42I|ENST00000358932,p.S42I|NM_021178,p.S42I|ENST00000557665,p.S42I|uc001vwv.4,p.S42I|ENST00000398160,p.S42I	protein_coding, processed_transcript, nonsense_mediated_decay	uc021rnp.2	nonsynonymous SNV	exon6	c.G125T	p.S42I	HIFCDQHGSGEFSRSPAICPACNST	HIFCDQHGSGEFIRSPAICPACNST	10.0	8.0	-	-	4258_14:20784558-20784558 C>A_HIFCDQHGSGEFIRSPAICPACNST
16:597164-597164 G>A	0.0	4258	ENDOMETRIAL	-	-	-	-	CAPN15	NM_005632,p.R109K|ENST00000562370,p.R109K|ENST00000219611,p.R109K|uc002chh.1,p.R109K|uc002chi.3,p.R109K	retained_intron, protein_coding, processed_transcript	uc002chi.3	nonsynonymous SNV	exon4	c.G326A	p.R109K	PKGSCQEEAGPVRTAGLVATEPARG	PKGSCQEEAGPVKTAGLVATEPARG	9.0	2.0	unscreened	-	4258_16:597164-597164 G>A_PKGSCQEEAGPVKTAGLVATEPARG
2:206991326-206991326 G>T	1.0	4258	ENDOMETRIAL	-	-	-	-	NDUFS1	uc010ziu.2,p.Q561K|uc010zit.2,p.Q566K|NM_001199981,p.Q641K|NM_001199982,p.Q566K|ENST00000233190,p.Q677K|uc010zis.2,p.Q620K|uc002vbe.3,p.Q677K|uc010ziq.2,p.Q691K|ENST00000455934,p.Q691K|uc010zir.2,p.Q641K|ENST00000457011,p.Q561K|ENST00000440274,p.Q641K|ENST00000432169,p.Q566K|NM_001199983,p.Q620K|NM_001199984,p.Q691K|ENST00000423725,p.Q620K|NM_005006,p.Q677K|ENST00000449699,p.Q677K	retained_intron, protein_coding, nonsense_mediated_decay	uc010ziu.2	nonsynonymous SNV	exon14	c.C1681A	p.Q561K	FQQANELSKLVNQQLLADPLVPPQL	FQQANELSKLVNKQLLADPLVPPQL	9.0	1.0	-	-	4258_2:206991326-206991326 G>T_FQQANELSKLVNKQLLADPLVPPQL
1:10699102-10699102 G>A	0.0	4258	ENDOMETRIAL	-	-	ID=COSM1600462;OCCURENCE=2(liver)	-	CASZ1	NM_001079843,p.A1726V|uc001aro.4,p.A1726V|ENST00000377022,p.A1726V	retained_intron, protein_coding, processed_transcript	uc001aro.4	nonsynonymous SNV	exon21	c.C5177T	p.A1726V	DLRTDSEESLPEAAAEAAGAGARTP	DLRTDSEESLPEVAAEAAGAGARTP	9.0	10.0	-	-	4258_1:10699102-10699102 G>A_DLRTDSEESLPEVAAEAAGAGARTP
12:125570963-125570963 G>T	1.0	4258	ENDOMETRIAL	-	-	-	-	AACS	ENST00000316519,p.G149V|NM_023928,p.G149V|uc001uhc.3,p.G149V|uc001uhd.3,p.G149V|ENST00000261686,p.G149V	protein_coding, processed_transcript, nonsense_mediated_decay	uc001uhd.3	nonsynonymous SNV	exon4	c.G446T	p.G149V	EVALFAAAMRKMGVKKGDRVVGYLP	EVALFAAAMRKMVVKKGDRVVGYLP	7.0	10.0	-	-	4258_12:125570963-125570963 G>T_EVALFAAAMRKMVVKKGDRVVGYLP
7:72413423-72413423 C>T	0.0	4258	ENDOMETRIAL	-	rs71554686	-	-	POM121	uc003twk.2,p.P964L|ENST00000395270,p.P699L|ENST00000446813,p.P699L|ENST00000257622,p.P699L|uc010lam.1,p.P699L|ENST00000358357,p.P699L|NM_001257190,p.P699L|uc031sxs.1,p.P699L|NM_172020,p.P699L|ENST00000434423,p.P964L	protein_coding	uc031sxs.1	nonsynonymous SNV	exon11	c.C2096T	p.P699L	FGSSAKSPLPSYPGANPQPAFGAAE	FGSSAKSPLPSYLGANPQPAFGAAE	7.0	1.0	unscreened	-	4258_7:72413423-72413423 C>T_FGSSAKSPLPSYLGANPQPAFGAAE
1:232626694-232626694 T>C	0.0	4258	ENDOMETRIAL	-	-	-	-	SIPA1L2	ENST00000366630,p.S578G|NM_020808,p.S578G|uc001hvg.3,p.S578G|ENST00000262861,p.S578G	protein_coding, processed_transcript	uc001hvg.3	nonsynonymous SNV	exon3	c.A1732G	p.S578G	LKEVLEYVIPELSIQCLRQASNSPK	LKEVLEYVIPELGIQCLRQASNSPK	6.0	4.0	-	-	4258_1:232626694-232626694 T>C_LKEVLEYVIPELGIQCLRQASNSPK
9:132636959-132636959 C>A	0.0	4258	ENDOMETRIAL	-	-	-	-	USP20	ENST00000315480,p.F615L|uc004byr.3,p.F615L|uc004bys.3,p.F615L|ENST00000372429,p.F615L|NM_001008563,p.F615L|ENST00000358355,p.F615L|NM_001110303,p.F615L|NM_006676,p.F615L|uc004byt.2,p.F615L	protein_coding, processed_transcript	uc004byt.2	nonsynonymous SNV	exon18	c.C1845A	p.F615L	VSFPLEGLDLRPFLAKECTSQITTY	VSFPLEGLDLRPLLAKECTSQITTY	8.0	1.0	unscreened	-	4258_9:132636959-132636959 C>A_VSFPLEGLDLRPLLAKECTSQITTY
10:50669473-50669473 C>T	1.0	4258	ENDOMETRIAL	-	-	-	-	ERCC6	NM_000124,p.R1303Q|uc001jhr.5,p.R671Q|uc010qgr.3,p.R673Q|uc009xod.4,p.R463Q|ENST00000542458,p.R673Q|ENST00000355832,p.R1303Q|uc001jhs.5,p.R1303Q	protein_coding, processed_transcript	uc010qgr.3	nonsynonymous SNV	exon13	c.G2018A	p.R673Q	QDALKALRLSRQRCLGAVSGVPTWT	QDALKALRLSRQQCLGAVSGVPTWT	6.0	9.0	-	-	4258_10:50669473-50669473 C>T_QDALKALRLSRQQCLGAVSGVPTWT
2:167056206-167056206 C>G	0.0	4258	ENDOMETRIAL	-	-	-	-	SCN9A	ENST00000303354,p.G1649A|ENST00000409672,p.G1637A|ENST00000375387,p.G1649A|NM_002977,p.G1637A|ENST00000409435,p.G1648A|uc010fpl.3,p.G1637A	retained_intron, protein_coding	uc010fpl.3	nonsynonymous SNV	exon27	c.G4910C	p.G1637A	ALMMSLPALFNIGLLLFLVMFIYAI	ALMMSLPALFNIALLLFLVMFIYAI	3.0	7.0	-	-	4258_2:167056206-167056206 C>G_ALMMSLPALFNIALLLFLVMFIYAI
6:31997405-31997405 C>A	1.0	4258	ENDOMETRIAL	-	-	-	-	C4A,C4B,C4B_2	ENST00000435363,p.P1247T|NM_007293,p.P1247T|NM_001242823,p.P1247T|ENST00000425700,p.P1247T|NM_001002029,p.P1247T|NM_001252204,p.P1247T|uc011dpe.2,p.P1247T|uc011dpd.2,p.P1247T	retained_intron, protein_coding, processed_transcript	uc011dpe.2	nonsynonymous SNV	exon29	c.C3739A	p.P1247T	GSQSNAVSPTPAPRNPSDPMPQAPA	GSQSNAVSPTPATRNPSDPMPQAPA	9.0	3.0	unscreened	-	4258_6:31997405-31997405 C>A_GSQSNAVSPTPATRNPSDPMPQAPA
13:115090093-115090093 C>A	1.0	4258	ENDOMETRIAL	-	-	-	-	CHAMP1	uc001vuv.3,p.P259Q|ENST00000361283,p.P259Q|NM_001164145,p.P259Q|uc010tko.2,p.P259Q|NM_032436,p.P259Q|uc021rmx.1,p.P259Q|uc010ahb.3,p.P259Q|NM_001164144,p.P259Q	protein_coding, processed_transcript	uc021rmx.1	nonsynonymous SNV	exon1	c.C776A	p.P259Q	SPVLAASPEPWGPSPAASPESRKSA	SPVLAASPEPWGQSPAASPESRKSA	7.0	7.0	-	-	4258_13:115090093-115090093 C>A_SPVLAASPEPWGQSPAASPESRKSA
13:114789828-114789828 T>G	0.0	4258	ENDOMETRIAL	-	-	-	-	RASA3	ENST00000334062,p.T203P|uc010tkk.2,p.T171P|NM_007368,p.T203P|ENST00000389544,p.T171P|uc001vui.3,p.T203P	protein_coding	uc010tkk.2	nonsynonymous SNV	exon8	c.A511C	p.T171P	NPQFDEVFYFEVTRPCSYSKKSHFD	NPQFDEVFYFEVPRPCSYSKKSHFD	6.0	9.0	-	-	4258_13:114789828-114789828 T>G_NPQFDEVFYFEVPRPCSYSKKSHFD
5:102432394-102432394 C>T	1.0	4258	ENDOMETRIAL	-	-	-	-	GIN1	NM_017676,p.R382H|uc003kob.1,p.R235H|ENST00000399004,p.R382H|uc003koa.1,p.R382H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003kob.1	nonsynonymous SNV	exon6	c.G704A	p.R235H	VLRQRKNWWKDGRFQSEWVGPCVID	VLRQRKNWWKDGHFQSEWVGPCVID	6.0	2.0	-	-	4258_5:102432394-102432394 C>T_VLRQRKNWWKDGHFQSEWVGPCVID
19:10799966-10799966 G>A	1.0	4258	ENDOMETRIAL	-	-	-	-	ILF3	NM_017620,p.S892N|ENST00000588657,p.S892N|uc002mpo.3,p.S892N|ENST00000590261,p.S888N|ENST00000318511,p.S888N|ENST00000449870,p.S892N|ENST00000590869,p.S110N|NM_012218,p.S888N|uc002mpn.3,p.S888N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mpo.3	nonsynonymous SNV	exon20	c.G2675A	p.S892N	SSQGGYGRNADHSMNYQYR	SSQGGYGRNADHNMNYQYR	10.0	2.0	-	-	4258_19:10799966-10799966 G>A_SSQGGYGRNADHNMNYQYR
5:61789825-61789825 G>T	0.0	4258	ENDOMETRIAL	-	-	-	-	IPO11	NM_016338,p.R488S|uc003jtc.3,p.R488S|uc011cqr.2,p.R528S|ENST00000325324,p.R488S|ENST00000409296,p.R528S|NM_001134779,p.R528S|ENST00000424533,p.R488S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cqr.2	nonsynonymous SNV	exon16	c.G1584T	p.R528S	NQLLPELQVIHNRYKPLRRRVIWLI	NQLLPELQVIHNSYKPLRRRVIWLI	8.0	3.0	-	-	4258_5:61789825-61789825 G>T_NQLLPELQVIHNSYKPLRRRVIWLI
7:105624688-105624688 G>T	0.0	4258	ENDOMETRIAL	-	-	-	-	CDHR3	ENST00000478080,p.V68F|ENST00000542731,p.V156F|NM_152750,p.V156F|NM_001301161,p.V68F|uc003vdl.4,p.V156F|ENST00000317716,p.V156F|uc003vdm.4,p.V143F|uc011klt.2,p.V68F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011klt.2	nonsynonymous SNV	exon3	c.G202T	p.V68F	IVERANPGFIYQVEAFDPEDTSRNI	IVERANPGFIYQFEAFDPEDTSRNI	5.0	2.0	unscreened	-	4258_7:105624688-105624688 G>T_IVERANPGFIYQFEAFDPEDTSRNI
2:220405808-220405808 G>C	1.0	4258	ENDOMETRIAL	-	-	-	-	CHPF	uc010zlh.2,p.P148A|uc002vmc.4,p.P310A|NM_024536,p.P310A|NM_001195731,p.P148A|ENST00000243776,p.P310A|ENST00000535926,p.P148A	protein_coding	uc010zlh.2	nonsynonymous SNV	exon3	c.C442G	p.P148A	VHYSHLELSPGEPVQEGDPHFRSAL	VHYSHLELSPGEAVQEGDPHFRSAL	9.0	8.0	-	-	4258_2:220405808-220405808 G>C_VHYSHLELSPGEAVQEGDPHFRSAL
4:106580404-106580404 A>T	0.0	4258	ENDOMETRIAL	-	-	-	-	ARHGEF38	NM_001242729,p.E476V|uc003hxv.2,p.E476V|ENST00000420470,p.E476V	protein_coding, processed_transcript	uc003hxv.2	nonsynonymous SNV	exon10	c.A1427T	p.E476V	KEYEALNAQLVEELQAFNQAARKIL	KEYEALNAQLVEVLQAFNQAARKIL	2.0	2.0	unscreened	-	4258_4:106580404-106580404 A>T_KEYEALNAQLVEVLQAFNQAARKIL
7:72891301-72891301 T>A	1.0	4258	ENDOMETRIAL	-	-	-	-	BAZ1B	uc003tyc.3,p.Q830H|NM_032408,p.Q830H|ENST00000339594,p.Q830H|ENST00000404251,p.Q830H	retained_intron, protein_coding	uc003tyc.3	nonsynonymous SNV	exon7	c.A2490T	p.Q830H	TDRKKEIVKFEPQVDTEAEDMISAV	TDRKKEIVKFEPHVDTEAEDMISAV	9.0	3.0	-	-	4258_7:72891301-72891301 T>A_TDRKKEIVKFEPHVDTEAEDMISAV
2:152502698-152502698 C>G	0.0	4258	ENDOMETRIAL	-	-	-	-	NEB	ENST00000603639,p.M2494I|uc002txu.3,p.M2494I|ENST00000427231,p.M2494I|uc021vrc.1,p.M2494I|uc031rpp.1,p.M2494I|ENST00000409198,p.M2494I|NM_001164508,p.M2494I|uc010fnx.3,p.M2494I|uc021vrd.1,p.M2494I|uc021vrb.1,p.M2494I|NM_004543,p.M2494I|ENST00000604864,p.M2494I|NM_001271208,p.M2494I|ENST00000172853,p.M2494I|ENST00000397345,p.M2494I|NM_001164507,p.M2494I	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon55	c.G7482C	p.M2494I	EAWDKDKTQIHIMPDTPDIVLAKAN	EAWDKDKTQIHIIPDTPDIVLAKAN	9.0	10.0	-	-	4258_2:152502698-152502698 C>G_EAWDKDKTQIHIIPDTPDIVLAKAN
1:32714117-32714117 G>A	1.0	4258	ENDOMETRIAL	-	-	-	-	FAM167B	uc001buw.3,p.G136E|NM_032648,p.G136E|ENST00000373582,p.G136E	protein_coding	uc001buw.3	nonsynonymous SNV	exon2	c.G407A	p.G136E	LDEAELELELEPGAGLALAPLLRHL	LDEAELELELEPEAGLALAPLLRHL	6.0	3.0	-	-	4258_1:32714117-32714117 G>A_LDEAELELELEPEAGLALAPLLRHL
X:48673160-48673160 T>A	0.0	4258	ENDOMETRIAL	-	-	-	-	HDAC6	uc011mmj.1,p.W283R|ENST00000413163,p.W283R	retained_intron, protein_coding, processed_transcript	uc011mmj.1	nonsynonymous SNV	exon11	c.T847A	p.W283R	VLLPVALEVLGIWGVLGGGVALKVR	VLLPVALEVLGIRGVLGGGVALKVR	9.0	9.0	-	-	4258_X:48673160-48673160 T>A_VLLPVALEVLGIRGVLGGGVALKVR
3:122694921-122694921 C>T	0.0	4258	ENDOMETRIAL	-	-	-	-	SEMA5B	ENST00000451055,p.R17K|NM_001256347,p.R17K|uc031sbm.1,p.R17K	protein_coding, processed_transcript, nonsense_mediated_decay	uc031sbm.1	nonsynonymous SNV	exon1	c.G50A	p.R17K	SAEEAIGCVRVRRSFIDELAFGRGH	SAEEAIGCVRVRKSFIDELAFGRGH	5.0	5.0	-	-	4258_3:122694921-122694921 C>T_SAEEAIGCVRVRKSFIDELAFGRGH
5:1406344-1406344 A>G	0.0	4258	ENDOMETRIAL	-	-	-	-	SLC6A3	ENST00000270349,p.W520R|NM_001044,p.W520R|uc003jck.3,p.W520R|ENST00000453492,p.W520R	retained_intron, protein_coding	uc003jck.3	nonsynonymous SNV	exon12	c.T1558C	p.W520R	IQQMTGQRPSLYWRLCWKLVSPCFL	IQQMTGQRPSLYRRLCWKLVSPCFL	2.0	9.0	-	-	4258_5:1406344-1406344 A>G_IQQMTGQRPSLYRRLCWKLVSPCFL
2:179489435-179489435 G>T	0.0	4258	ENDOMETRIAL	-	-	-	-	TTN	uc021vta.2,p.P5918T|ENST00000342175,p.P5985T|ENST00000342992,p.P12290T|NM_133378,p.P12290T|NM_003319,p.P5793T|ENST00000591111,p.P13217T|uc021vsz.2,p.P5985T|NM_001256850,p.P13217T|uc031rqc.1,p.P14858T|ENST00000359218,p.P5918T|uc031rqd.1,p.P13217T|uc021vtb.2,p.P5793T|ENST00000589042,p.P14858T|NM_133432,p.P5918T|ENST00000460472,p.P5793T|NM_133437,p.P5985T|NM_001267550,p.P14858T|uc021vsy.2,p.P12290T	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon192	c.C39649A	p.P13217T	LFVKEPPVEFTKPLEDQTVEEGATA	LFVKEPPVEFTKTLEDQTVEEGATA	6.0	1.0	unscreened	-	4258_2:179489435-179489435 G>T_LFVKEPPVEFTKTLEDQTVEEGATA
2:145182380-145182380 G>A	0.0	4258	ENDOMETRIAL	-	-	-	-	ZEB2	NM_014795,p.A129V|ENST00000303660,p.A129V|ENST00000427902,p.A129V|ENST00000558170,p.A129V|ENST00000392861,p.A129V|uc002tvu.3,p.A129V|uc010fnq.1,p.A158V|uc002tvv.3,p.A123V|ENST00000409487,p.A129V	retained_intron, protein_coding, processed_transcript	uc010fnq.1	nonsynonymous SNV	exon4	c.C473T	p.A158V	YDTMGPEATIQTAINNGTVKNANCT	YDTMGPEATIQTVINNGTVKNANCT	6.0	2.0	unscreened	-	4258_2:145182380-145182380 G>A_YDTMGPEATIQTVINNGTVKNANCT
20:31606154-31606154 A>C	0.0	4258	ENDOMETRIAL	-	-	-	-	BPIFB2	ENST00000170150,p.N223H|NM_025227,p.N223H|uc002wyj.4,p.N223H	protein_coding	uc002wyj.4	nonsynonymous SNV	exon8	c.A667C	p.N223H	PTVTSDYISLEVNAVLFLLGKPIIL	PTVTSDYISLEVHAVLFLLGKPIIL	1.0	9.0	-	-	4258_20:31606154-31606154 A>C_PTVTSDYISLEVHAVLFLLGKPIIL
15:33893638-33893638 T>A	0.0	4258	ENDOMETRIAL	-	-	-	-	RYR3	uc010bar.3,p.S603T|uc001zhi.3,p.S603T|NM_001243996,p.S603T|ENST00000415757,p.S603T|NM_001036,p.S603T|ENST00000389232,p.S603T	retained_intron, protein_coding, processed_transcript	uc010bar.3	nonsynonymous SNV	exon17	c.T1807A	p.S603T	HGRNHKVLDILCSLCLCNGVAVRAN	HGRNHKVLDILCTLCLCNGVAVRAN	3.0	8.0	-	-	4258_15:33893638-33893638 T>A_HGRNHKVLDILCTLCLCNGVAVRAN
12:93285491-93285491 C>T	0.0	4258	ENDOMETRIAL	-	-	-	-	EEA1	ENST00000418984,p.G11R|uc001tck.3,p.G11R|ENST00000322349,p.G11R|ENST00000553019,p.G11R|NM_003566,p.G11R	protein_coding, processed_transcript, nonsense_mediated_decay	uc001tck.3	nonsynonymous SNV	exon2	c.G31A	p.G11R	MLRRILQRTPGRVGSQGSDLDSS	MLRRILQRTPRRVGSQGSDLDSS	5.0	10.0	-	-	4258_12:93285491-93285491 C>T_MLRRILQRTPRRVGSQGSDLDSS
19:19616195-19616195 A>C	1.0	4258	ENDOMETRIAL	-	-	-	-	GATAD2A	ENST00000537887,p.K234T|uc010xqv.3,p.K606T|ENST00000252577,p.K580T|NM_017660,p.K605T|ENST00000358713,p.K605T|uc010xqt.2,p.K605T|uc010xqw.2,p.K408T|NM_001300946,p.K606T|uc010xqu.2,p.K234T|ENST00000429563,p.K408T|ENST00000360315,p.K605T|ENST00000404158,p.K606T	protein_coding, processed_transcript	uc010xqw.2	nonsynonymous SNV	exon8	c.A1223C	p.K408T	TLAFVSPSLAVHKSSSAVDRQREYL	TLAFVSPSLAVHTSSSAVDRQREYL	9.0	7.0	-	-	4258_19:19616195-19616195 A>C_TLAFVSPSLAVHTSSSAVDRQREYL
X:48559020-48559020 G>A	0.0	4258	ENDOMETRIAL	-	-	-	-	SUV39H1	ENST00000453214,p.V83M	retained_intron, protein_coding, processed_transcript	ENST00000453214	nonsynonymous SNV	exon4	c.G247A	p.V83M	TPAAAAAMTAQIVWYRRVSDMTSAS	TPAAAAAMTAQIMWYRRVSDMTSAS	7.0	6.0	-	-	4258_X:48559020-48559020 G>A_TPAAAAAMTAQIMWYRRVSDMTSAS
19:42874433-42874433 T>A	1.0	4258	ENDOMETRIAL	-	-	-	-	MEGF8	ENST00000334370,p.N2242K|uc002otl.4,p.N2242K|ENST00000593647,p.N62K|ENST00000251268,p.N2309K|NM_001271938,p.N2309K|NM_001410,p.N2242K|uc002otm.5,p.N2309K	retained_intron, protein_coding	uc002otm.5	nonsynonymous SNV	exon39	c.T6927A	p.N2309K	GTCRPCHAFCRGNSHICISRKELQM	GTCRPCHAFCRGKSHICISRKELQM	7.0	10.0	-	-	4258_19:42874433-42874433 T>A_GTCRPCHAFCRGKSHICISRKELQM
4:145039891-145039891 G>T	0.0	4258	ENDOMETRIAL	-	-	-	-	GYPA	uc010ior.3,p.L18I|ENST00000512789,p.L18I	retained_intron, protein_coding, nonsense_mediated_decay	uc010ior.3	nonsynonymous SNV	exon2	c.C52A	p.L18I	IFVLLLSGERVQLAHHFSEPEITLI	IFVLLLSGERVQIAHHFSEPEITLI	1.0	9.0	-	-	4258_4:145039891-145039891 G>T_IFVLLLSGERVQIAHHFSEPEITLI
6:84563490-84563490 G>T	0.0	4258	ENDOMETRIAL	-	-	-	-	RIPPLY2	uc003pke.3,p.A58S|ENST00000369689,p.A58S|NM_001009994,p.A58S	protein_coding	uc003pke.3	nonsynonymous SNV	exon2	c.G172T	p.A58S	KKEEETPNHAAEAMPDGPGMTAASG	KKEEETPNHAAESMPDGPGMTAASG	1.0	8.0	-	-	4258_6:84563490-84563490 G>T_KKEEETPNHAAESMPDGPGMTAASG
4:145039891-145039891 G>T	0.0	4258	ENDOMETRIAL	-	-	-	-	GYPA	NM_002099,p.L83I|uc031shj.1,p.L83I|uc011cib.2,p.L50I|ENST00000535709,p.L57I|uc003ijo.4,p.L83I|ENST00000360771,p.L83I|ENST00000324022,p.L50I|uc031she.1,p.L50I	retained_intron, protein_coding, nonsense_mediated_decay	uc031shj.1	nonsynonymous SNV	exon4	c.C247A	p.L83I	YPPEEETGERVQLAHHFSEPEITLI	YPPEEETGERVQIAHHFSEPEITLI	1.0	9.0	-	-	4258_4:145039891-145039891 G>T_YPPEEETGERVQIAHHFSEPEITLI
4:145039891-145039891 G>T	0.0	4258	ENDOMETRIAL	-	-	-	-	GYPA	uc003ijp.4,p.L51I|ENST00000504786,p.L51I	retained_intron, protein_coding, nonsense_mediated_decay	uc003ijp.4	nonsynonymous SNV	exon3	c.C151A	p.L51I	YISSQTNGERVQLAHHFSEPEITLI	YISSQTNGERVQIAHHFSEPEITLI	1.0	9.0	-	-	4258_4:145039891-145039891 G>T_YISSQTNGERVQIAHHFSEPEITLI
X:140993827-140993827 A>C	0.0	4258	ENDOMETRIAL	-	rs143392898	-	-	MAGEC1	ENST00000285879,p.I213L|uc004fbt.3,p.I213L|NM_005462,p.I213L	protein_coding	uc004fbt.3	nonsynonymous SNV	exon4	c.A637C	p.I213L	PVSRSFSSTLLSIFQSSPERTQSTF	PVSRSFSSTLLSLFQSSPERTQSTF	5.0	2.0	unscreened	-	4258_X:140993827-140993827 A>C_PVSRSFSSTLLSLFQSSPERTQSTF
4:4190595-4190595 G>C	0.0	4258	ENDOMETRIAL	-	rs2310687	-	-	OTOP1	ENST00000296358,p.P592A|NM_177998,p.P592A|uc003ghp.1,p.P592A	protein_coding	uc003ghp.1	nonsynonymous SNV	exon6	c.C1774G	p.P592A	FEPWIIVVNLAMPFSIFYRMHAAAS	FEPWIIVVNLAMAFSIFYRMHAAAS	1.0	2.0	unscreened	-	4258_4:4190595-4190595 G>C_FEPWIIVVNLAMAFSIFYRMHAAAS
22:38822972-38822972 T>A	0.0	4258	ENDOMETRIAL	-	-	-	-	KCNJ4	uc003avs.1,p.E389V|uc021wpp.1,p.E389V|NM_004981,p.E389V|ENST00000303592,p.E389V|uc003avt.2,p.E389V|NM_152868,p.E389V	protein_coding	uc021wpp.1	nonsynonymous SNV	exon1	c.A1166T	p.E389V	LALMSQEEEEMEEEAAAAAAVAAGL	LALMSQEEEEMEVEAAAAAAVAAGL	1.0	1.0	unscreened	-	4258_22:38822972-38822972 T>A_LALMSQEEEEMEVEAAAAAAVAAGL
4:90816156-90816156 A>T	0.0	4258	ENDOMETRIAL	-	-	-	-	MMRN1	uc010iku.3,p.S12C|ENST00000394981,p.S12C|uc003hst.3,p.S12C|NM_007351,p.S12C|ENST00000264790,p.S12C|ENST00000394980,p.S12C	retained_intron, protein_coding	uc010iku.3	nonsynonymous SNV	exon1	c.A34T	p.S12C	MKGARLFVLLSSLWSGGIGLNNSK	MKGARLFVLLSCLWSGGIGLNNSK	3.0	10.0	-	-	4258_4:90816156-90816156 A>T_MKGARLFVLLSCLWSGGIGLNNSK
9:18657671-18657671 A>T	0.0	4258	ENDOMETRIAL	-	-	-	-	ADAMTSL1	NM_052866,p.Q290L|NM_001040272,p.Q290L|ENST00000327883,p.Q290L|ENST00000380548,p.Q290L|ENST00000380566,p.Q290L|ENST00000276935,p.Q290L|uc003zne.4,p.Q290L|uc003znc.4,p.Q290L|uc003znb.3,p.Q290L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zne.4	nonsynonymous SNV	exon8	c.A869T	p.Q290L	KIRNSGSADSTVQFIFYQPIIHRWR	KIRNSGSADSTVLFIFYQPIIHRWR	4.0	3.0	unscreened	-	4258_9:18657671-18657671 A>T_KIRNSGSADSTVLFIFYQPIIHRWR
17:79173610-79173610 C>T	0.0	4258	ENDOMETRIAL	-	-	-	-	CEP131	uc002jzo.1,p.G311E|NM_014984,p.G311E|ENST00000450824,p.G311E|uc010wum.1,p.G311E|ENST00000269392,p.G311E|uc002jzn.1,p.G311E|NM_001009811,p.G311E|uc002jzp.1,p.G311E|ENST00000374782,p.G311E|ENST00000575907,p.G311E	protein_coding, processed_transcript	uc010wum.1	nonsynonymous SNV	exon9	c.G932A	p.G311E	AKREEQRQRSGEGTLLDLHQQKEAA	AKREEQRQRSGEETLLDLHQQKEAA	8.0	3.0	-	-	4258_17:79173610-79173610 C>T_AKREEQRQRSGEETLLDLHQQKEAA
8:104240252-104240252 A>T	0.0	4258	ENDOMETRIAL	-	-	-	-	BAALC	uc003yld.3,p.E121D|ENST00000297574,p.E156D|NM_024812,p.E121D|ENST00000309982,p.E121D	protein_coding, processed_transcript	uc003yld.3	nonsynonymous SNV	exon3	c.A363T	p.E121D	EAKRDAKRMPAKEVTINVTDSIQQM	EAKRDAKRMPAKDVTINVTDSIQQM	5.0	6.0	-	-	4258_8:104240252-104240252 A>T_EAKRDAKRMPAKDVTINVTDSIQQM
1:119427483-119427483 C>T	0.0	4258	ENDOMETRIAL	-	-	-	-	TBX15	ENST00000449873,p.G289R|ENST00000207157,p.G455R|uc001ehl.1,p.G455R|NM_152380,p.G455R|uc009whj.1,p.G279R|ENST00000369429,p.G561R	protein_coding	uc009whj.1	nonsynonymous SNV	exon3	c.G835A	p.G279R	NGAFGERQYLPSGMEHSMHMISPSP	NGAFGERQYLPSRMEHSMHMISPSP	4.0	1.0	unscreened	-	4258_1:119427483-119427483 C>T_NGAFGERQYLPSRMEHSMHMISPSP
9:95099844-95099844 G>A	1.0	4258	ENDOMETRIAL	-	-	-	-	CENPP	uc004arz.3,p.R104K|ENST00000375587,p.R104K|NM_001012267,p.R104K	protein_coding	uc004arz.3	nonsynonymous SNV	exon3	c.G311A	p.R104K	EMTEKSIRKVLQRHRLSGNCHMVTF	EMTEKSIRKVLQKHRLSGNCHMVTF	6.0	8.0	unscreened	-	4258_9:95099844-95099844 G>A_EMTEKSIRKVLQKHRLSGNCHMVTF
19:55716940-55716940 G>T	0.0	4258	ENDOMETRIAL	-	-	-	-	PTPRH	uc002qjq.3,p.L125M|ENST00000376350,p.L125M|NM_002842,p.L125M|uc002qjs.2,p.L132M	protein_coding, processed_transcript	uc002qjs.2	nonsynonymous SNV	exon4	c.C394A	p.L132M	VTTATAPNPVRNLRVEAQTNSSIAL	VTTATAPNPVRNMRVEAQTNSSIAL	3.0	1.0	unscreened	-	4258_19:55716940-55716940 G>T_VTTATAPNPVRNMRVEAQTNSSIAL
4:145039891-145039891 G>T	0.0	4258	ENDOMETRIAL	-	-	-	-	GYPA	uc003ijn.2,p.L83I	retained_intron, protein_coding, nonsense_mediated_decay	uc003ijn.2	nonsynonymous SNV	exon4	c.C247A	p.L83I	YPPEEETGERVQLAHHFSEPAPVVI	YPPEEETGERVQIAHHFSEPAPVVI	1.0	9.0	-	-	4258_4:145039891-145039891 G>T_YPPEEETGERVQIAHHFSEPAPVVI
11:60173452-60173452 T>G	0.0	4258	ENDOMETRIAL	-	-	-	-	MS4A14	uc031qbe.1,p.S170A|NM_001261827,p.S170A|ENST00000531783,p.S187A|NM_001261828,p.S187A|uc031qbd.1,p.S187A	protein_coding, nonsense_mediated_decay	uc031qbe.1	nonsynonymous SNV	exon4	c.T508G	p.S170A	TIASFRSKCWTQSDEVLFFLPSDVT	TIASFRSKCWTQADEVLFFLPSDVT	5.0	5.0	-	-	4258_11:60173452-60173452 T>G_TIASFRSKCWTQADEVLFFLPSDVT
2:60773289-60773289 G>A	0.0	4258	ENDOMETRIAL	-	-	-	1	BCL11A	ENST00000358510,p.R68W|uc010ypj.2,p.R68W|uc002sae.1,p.R68W|ENST00000335712,p.R68W|uc010fcg.3,p.R68W|uc002saf.1,p.R68W|NM_138559,p.R68W|ENST00000359629,p.R68W|uc002sab.3,p.R68W|NM_018014,p.R68W|ENST00000538214,p.R68W|uc002sac.3,p.R68W|ENST00000356842,p.R68W|NM_022893,p.R68W	protein_coding, processed_transcript	uc010ypj.2	nonsynonymous SNV	exon2	c.C202T	p.R68W	PLGDILIFIEHKRKQCNGSLCLEKA	PLGDILIFIEHKWKQCNGSLCLEKA	5.0	10.0	-	-	4258_2:60773289-60773289 G>A_PLGDILIFIEHKWKQCNGSLCLEKA
1:16063342-16063342 G>A	0.0	4258	ENDOMETRIAL	-	-	-	-	SLC25A34	uc001axb.1,p.G121E|ENST00000294454,p.G121E|NM_207348,p.G121E	protein_coding, processed_transcript	uc001axb.1	nonsynonymous SNV	exon1	c.G362A	p.G121E	AGAVAGALGAFVGSPAYLIKTQLQA	AGAVAGALGAFVESPAYLIKTQLQA	5.0	4.0	-	-	4258_1:16063342-16063342 G>A_AGAVAGALGAFVESPAYLIKTQLQA
1:114354681-114354681 G>T	1.0	4258	ENDOMETRIAL	-	-	-	-	RSBN1	NM_018364,p.S118R|ENST00000261441,p.S118R|uc001edq.3,p.S118R	protein_coding, processed_transcript, nonsense_mediated_decay	uc001edq.3	nonsynonymous SNV	exon1	c.C354A	p.S118R	EPPLAPPHRRRRSRQHPGPLPPTNA	EPPLAPPHRRRRRRQHPGPLPPTNA	7.0	6.0	-	-	4258_1:114354681-114354681 G>T_EPPLAPPHRRRRRRQHPGPLPPTNA
7:87006675-87006675 C>T	0.0	4258	ENDOMETRIAL	-	-	-	-	CROT	NM_001143935,p.A324V|ENST00000331536,p.A296V|NM_021151,p.A296V|ENST00000442291,p.A296V|uc003uiu.3,p.A324V|uc003uit.3,p.A296V|ENST00000419147,p.A324V	retained_intron, protein_coding	uc003uiu.3	nonsynonymous SNV	exon11	c.C971T	p.A324V	HVTPEDYSEIIAAILIGDPTVRWGD	HVTPEDYSEIIAVILIGDPTVRWGD	4.0	6.0	-	-	4258_7:87006675-87006675 C>T_HVTPEDYSEIIAVILIGDPTVRWGD
17:27908945-27908945 C>T	0.0	4258	ENDOMETRIAL	-	-	-	-	GIT1	NM_014030,p.R208K|ENST00000225394,p.R208K|ENST00000579937,p.R208K|uc010wbg.1,p.R208K|ENST00000394869,p.R208K|ENST00000581348,p.R208K|uc002heg.2,p.R208K|uc002hef.2,p.R208K|NM_001085454,p.R208K	retained_intron, protein_coding, nonsense_mediated_decay	uc010wbg.1	nonsynonymous SNV	exon5	c.G623A	p.R208K	PDVNGRTPIDYARQAGHHELAERLV	PDVNGRTPIDYAKQAGHHELAERLV	7.0	3.0	-	-	4258_17:27908945-27908945 C>T_PDVNGRTPIDYAKQAGHHELAERLV
12:120591088-120591088 C>G	1.0	4258	ENDOMETRIAL	-	-	-	-	GCN1L1	uc001txo.3,p.D1331H|ENST00000300648,p.D1331H|NM_006836,p.D1331H	retained_intron, protein_coding	uc001txo.3	nonsynonymous SNV	exon33	c.G3991C	p.D1331H	VVVLMGSLAKHLDKSDPKVKPIVAK	VVVLMGSLAKHLHKSDPKVKPIVAK	8.0	10.0	unscreened	-	4258_12:120591088-120591088 C>G_VVVLMGSLAKHLHKSDPKVKPIVAK
16:1840750-1840750 C>T	1.0	4258	ENDOMETRIAL	-	-	-	-	IGFALS	NM_001146006,p.A595T|uc010uvn.2,p.A595T|ENST00000415638,p.A595T|uc010uvo.2,p.A191T|uc002cmy.3,p.A557T|ENST00000215539,p.A557T|NM_004970,p.A557T	protein_coding	uc010uvo.2	nonsynonymous SNV	exon2	c.G571A	p.A191T	KALRDFALQNPSAVPRFVQAICEGD	KALRDFALQNPSTVPRFVQAICEGD	4.0	8.0	-	-	4258_16:1840750-1840750 C>T_KALRDFALQNPSTVPRFVQAICEGD
11:94278621-94278621 G>T	0.0	4258	ENDOMETRIAL	-	-	-	-	FUT4	ENST00000358752,p.G441V|NM_002033,p.G441V|uc001pez.3,p.G441V	protein_coding	uc001pez.3	nonsynonymous SNV	exon1	c.G1322T	p.G441V	NALLAGAVPVVLGPDRANYERFVPR	NALLAGAVPVVLVPDRANYERFVPR	5.0	5.0	-	-	4258_11:94278621-94278621 G>T_NALLAGAVPVVLVPDRANYERFVPR
X:111698812-111698812 T>A	0.0	4258	ENDOMETRIAL	-	-	-	-	ZCCHC16	ENST00000340433,p.S286T|NM_001004308,p.S286T|uc022cct.1,p.S286T|uc004epo.1,p.S286T	protein_coding	uc022cct.1	nonsynonymous SNV	exon1	c.T856A	p.S286T	QQETQLCLYCSQSGHFTRDCLAKRS	QQETQLCLYCSQTGHFTRDCLAKRS	1.0	10.0	-	-	4258_X:111698812-111698812 T>A_QQETQLCLYCSQTGHFTRDCLAKRS
3:48616679-48616679 C>T	0.0	4258	ENDOMETRIAL	-	-	-	-	COL7A1	ENST00000328333,p.R1780Q|ENST00000454817,p.R1780Q|NM_000094,p.R1780Q|uc003ctz.2,p.R1780Q	retained_intron, protein_coding, processed_transcript	uc003ctz.2	nonsynonymous SNV	exon61	c.G5339A	p.R1780Q	EKGDRGPPGLDGRSGLDGKPGAAGP	EKGDRGPPGLDGQSGLDGKPGAAGP	9.0	2.0	-	-	4258_3:48616679-48616679 C>T_EKGDRGPPGLDGQSGLDGKPGAAGP
19:9406729-9406729 C>T	0.0	4258	ENDOMETRIAL	-	-	-	-	ZNF699	ENST00000591998,p.E451K|uc002mlc.1,p.E451K|ENST00000308650,p.E451K|NM_198535,p.E451K	protein_coding, processed_transcript	uc002mlc.1	nonsynonymous SNV	exon5	c.G1351A	p.E451K	KNQSREKPYECKECGKAFSCPSSFR	KNQSREKPYECKKCGKAFSCPSSFR	3.0	1.0	unscreened	-	4258_19:9406729-9406729 C>T_KNQSREKPYECKKCGKAFSCPSSFR
12:112674805-112674805 C>A	1.0	4258	ENDOMETRIAL	-	-	-	-	HECTD4	NM_001109662,p.Q1662H|ENST00000377560,p.Q1624H|ENST00000430131,p.Q1374H|ENST00000550722,p.Q1650H|uc021reb.1,p.Q1662H	retained_intron, protein_coding, processed_transcript	uc021reb.1	nonsynonymous SNV	exon35	c.G4986T	p.Q1662H	NHLARATECCGNQAAGNDALQDVLS	NHLARATECCGNHAAGNDALQDVLS	8.0	9.0	-	-	4258_12:112674805-112674805 C>A_NHLARATECCGNHAAGNDALQDVLS
5:148612798-148612798 C>T	0.0	4258	ENDOMETRIAL	-	-	-	-	ABLIM3	uc003lqc.1,p.R275W|NM_014945,p.R275W|ENST00000356541,p.R275W|ENST00000506113,p.R275W|ENST00000508983,p.R275W|uc003lpy.2,p.R275W|uc003lqe.1,p.R275W|uc003lqd.1,p.R275W|NM_001301028,p.R275W|NM_001301015,p.R275W|ENST00000504238,p.R275W|uc003lqf.3,p.R275W|uc003lqb.3,p.R275W|uc003lpz.1,p.R275W|NM_001301018,p.R275W|ENST00000326685,p.R275W|ENST00000309868,p.R275W|uc003lqa.1,p.R283W|NM_001301027,p.R283W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003lqf.3	nonsynonymous SNV	exon9	c.C823T	p.R275W	QAARAEKKLKHRRTSETSISPPGSS	QAARAEKKLKHRWTSETSISPPGSS	4.0	8.0	-	-	4258_5:148612798-148612798 C>T_QAARAEKKLKHRWTSETSISPPGSS
1:152325064-152325064 T>G	0.0	4258	ENDOMETRIAL	-	-	-	-	FLG2	uc001ezw.4,p.D1733A|NM_001014342,p.D1733A|ENST00000388718,p.D1733A	protein_coding	uc001ezw.4	nonsynonymous SNV	exon3	c.A5198C	p.D1733A	TGRRGSGHSEYSDSEGYSGVSHTHS	TGRRGSGHSEYSASEGYSGVSHTHS	1.0	5.0	-	-	4258_1:152325064-152325064 T>G_TGRRGSGHSEYSASEGYSGVSHTHS
6:46191008-46191008 T>A	0.0	4258	ENDOMETRIAL	-	-	-	-	RCAN2	NM_001251974,p.E201V|uc003oyb.2,p.E155V|NM_001251973,p.E201V|uc003oyc.2,p.E201V|ENST00000371374,p.E201V|ENST00000405162,p.E201V|NM_005822,p.E155V|ENST00000330430,p.E155V|ENST00000306764,p.E201V|uc003oyd.2,p.E201V	protein_coding	uc003oyd.2	nonsynonymous SNV	exon5	c.A602T	p.E201V	GPGEKYELHAGTESTPSVVVHVCDS	GPGEKYELHAGTVSTPSVVVHVCDS	6.0	2.0	unscreened	-	4258_6:46191008-46191008 T>A_GPGEKYELHAGTVSTPSVVVHVCDS
22:17488983-17488983 G>T	0.0	4258	ENDOMETRIAL	-	-	-	-	GAB4	ENST00000400588,p.P8T|uc010gqs.1,p.P8T|NM_001037814,p.P8T|uc002zlw.3,p.P8T	protein_coding, processed_transcript, nonsense_mediated_decay	uc010gqs.1	nonsynonymous SNV	exon1	c.C22A	p.P8T	MSLPSPSPSRELCPPDPAFA	MSLPSPSTSRELCPPDPAFA	1.0	5.0	unscreened	-	4258_22:17488983-17488983 G>T_MSLPSPSTSRELCPPDPAFA
15:49135772-49135772 T>A	0.0	4258	ENDOMETRIAL	-	-	-	-	SHC4	ENST00000557797,p.Q133L	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000557797	nonsynonymous SNV	exon6	c.A398T	p.Q133L	QCEKLCYLVMSIQEGCSPSEIPHY	QCEKLCYLVMSILEGCSPSEIPHY	2.0	3.0	-	-	4258_15:49135772-49135772 T>A_QCEKLCYLVMSILEGCSPSEIPHY
11:2909613-2909613 C>T	0.0	4258	ENDOMETRIAL	-	-	-	-	SLC22A18AS	ENST00000455942,p.A84T|ENST00000533594,p.A187T|ENST00000526203,p.A84T|NM_007105,p.A187T|uc001lwv.4,p.A187T	protein_coding	uc001lwv.4	nonsynonymous SNV	exon4	c.G559A	p.A187T	CSEENAKAGGCSAFPLLLSQLGARM	CSEENAKAGGCSTFPLLLSQLGARM	4.0	10.0	-	-	4258_11:2909613-2909613 C>T_CSEENAKAGGCSTFPLLLSQLGARM
19:52003519-52003519 C>A	0.0	4258	ENDOMETRIAL	-	-	-	-	SIGLEC12	uc002pwx.1,p.V155L|NM_033329,p.V37L|uc002pww.1,p.V37L|NM_053003,p.V155L|ENST00000291707,p.V155L|ENST00000598614,p.V37L	protein_coding, nonsense_mediated_decay	uc002pwx.1	nonsynonymous SNV	exon2	c.G463T	p.V155L	ASQDLLSRYRLEVPESVTVQEGLCV	ASQDLLSRYRLELPESVTVQEGLCV	3.0	8.0	-	-	4258_19:52003519-52003519 C>A_ASQDLLSRYRLELPESVTVQEGLCV
5:79855094-79855094 C>T	0.0	4258	ENDOMETRIAL	-	-	-	-	ANKRD34B	uc003kgw.3,p.V249I|NM_001004441,p.V249I|ENST00000338682,p.V249I|uc010jam.3,p.V249I|uc010jan.3,p.V249I|uc021yax.1,p.V249I	protein_coding	uc021yax.1	nonsynonymous SNV	exon1	c.G745A	p.V249I	PKGPKLPHAPPWVKSPPLLMHQNRV	PKGPKLPHAPPWIKSPPLLMHQNRV	1.0	6.0	-	-	4258_5:79855094-79855094 C>T_PKGPKLPHAPPWIKSPPLLMHQNRV
16:83250989-83250989 C>T	0.0	4258	ENDOMETRIAL	-	-	-	-	CDH13	uc002fgx.3,p.L175F|NM_001220488,p.L222F|NM_001257,p.L175F|uc010vnu.2,p.L136F|ENST00000566620,p.L175F|uc010vns.2,p.L222F|ENST00000268613,p.L222F|ENST00000428848,p.L136F|NM_001220489,p.L136F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vnu.2	nonsynonymous SNV	exon4	c.C406T	p.L136F	VDSDRPERSKFRLTGKGVDQEPKGI	VDSDRPERSKFRFTGKGVDQEPKGI	5.0	10.0	-	-	4258_16:83250989-83250989 C>T_VDSDRPERSKFRFTGKGVDQEPKGI
1:246720773-246720773 G>A	1.0	4258	ENDOMETRIAL	-	-	-	-	TFB2M	NM_022366,p.P156S|uc001ibn.3,p.P156S|ENST00000366514,p.P156S	protein_coding	uc001ibn.3	nonsynonymous SNV	exon3	c.C466T	p.P156S	LRVIHCDFFKLDPRSGGVIKPPAMS	LRVIHCDFFKLDSRSGGVIKPPAMS	8.0	8.0	-	-	4258_1:246720773-246720773 G>A_LRVIHCDFFKLDSRSGGVIKPPAMS
11:6589395-6589395 T>A	0.0	4258	ENDOMETRIAL	-	-	-	-	DNHD1	ENST00000254579,p.L4154Q|uc001mdw.4,p.L4154Q|uc010rao.2,p.L412Q|NM_144666,p.L4154Q|uc001mea.4,p.L423Q|uc001meb.3,p.L422Q|uc001mec.3,p.L422Q|ENST00000527990,p.L4154Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rao.2	nonsynonymous SNV	exon4	c.T1235A	p.L412Q	LSQAMYEGHWLVLDNCHLMPHWPKE	LSQAMYEGHWLVQDNCHLMPHWPKE	5.0	9.0	-	-	4258_11:6589395-6589395 T>A_LSQAMYEGHWLVQDNCHLMPHWPKE
6:153043242-153043242 C>T	0.0	4258	ENDOMETRIAL	-	-	ID=COSM1698196;OCCURENCE=1(skin)	-	MYCT1	NM_025107,p.P188S|uc003qpc.4,p.P188S|ENST00000367245,p.P188S	protein_coding	uc003qpc.4	nonsynonymous SNV	exon2	c.C562T	p.P188S	LPVETESQLVTLPSSNISPTISTSH	LPVETESQLVTLSSSNISPTISTSH	5.0	1.0	unscreened	-	4258_6:153043242-153043242 C>T_LPVETESQLVTLSSSNISPTISTSH
1:48260410-48260410 G>T	0.0	4258	ENDOMETRIAL	-	-	-	-	TRABD2B	uc021ong.1,p.T279N|ENST00000371865,p.T279N|NM_001194986,p.T279N	protein_coding, processed_transcript	uc021ong.1	nonsynonymous SNV	exon4	c.C836A	p.T279N	HDTSQLPNFINTTLPPHEQVTAQEI	HDTSQLPNFINTNLPPHEQVTAQEI	3.0	5.0	-	-	4258_1:48260410-48260410 G>T_HDTSQLPNFINTNLPPHEQVTAQEI
4:106580397-106580397 G>T	0.0	4258	ENDOMETRIAL	-	-	-	-	ARHGEF38	uc003hxv.2,p.V474L|ENST00000420470,p.V474L|NM_001242729,p.V474L	protein_coding, processed_transcript	uc003hxv.2	nonsynonymous SNV	exon10	c.G1420T	p.V474L	AKKEYEALNAQLVEELQAFNQAARK	AKKEYEALNAQLLEELQAFNQAARK	2.0	2.0	unscreened	-	4258_4:106580397-106580397 G>T_AKKEYEALNAQLLEELQAFNQAARK
4:142053787-142053787 G>A	0.0	4258	ENDOMETRIAL	-	-	-	-	RNF150	uc003iio.1,p.A59V|ENST00000306799,p.A59V|uc010iok.1,p.A59V|ENST00000507500,p.A59V|NM_020724,p.A59V|ENST00000515673,p.A59V|uc003iip.1,p.A59V	protein_coding, processed_transcript	uc010iok.1	nonsynonymous SNV	exon1	c.C176T	p.A59V	TYAEPAPDPGAGAAGGGGAELHTEK	TYAEPAPDPGAGVAGGGGAELHTEK	6.0	3.0	-	-	4258_4:142053787-142053787 G>A_TYAEPAPDPGAGVAGGGGAELHTEK
3:39230120-39230120 A>G	0.0	4258	ENDOMETRIAL	-	-	-	-	XIRP1	uc003cji.3,p.F273L|ENST00000396251,p.F273L|uc003cjk.2,p.F273L|ENST00000340369,p.F273L|NM_194293,p.F273L|uc021wvz.1,p.F273L|NM_001198621,p.F273L	protein_coding	uc021wvz.1	nonsynonymous SNV	exon1	c.T817C	p.F273L	IQSNAVRSARWLFETRPLDAINQDP	IQSNAVRSARWLLETRPLDAINQDP	4.0	9.0	-	-	4258_3:39230120-39230120 A>G_IQSNAVRSARWLLETRPLDAINQDP
6:39053784-39053784 C>A	0.0	4258	ENDOMETRIAL	-	-	-	-	GLP1R	NM_002062,p.L443M|ENST00000373256,p.L443M|uc003ooj.4,p.L443M	protein_coding	uc003ooj.4	nonsynonymous SNV	exon13	c.C1327A	p.L443M	SSMKPLKCPTSSLSSGATAGSSMYT	SSMKPLKCPTSSMSSGATAGSSMYT	1.0	4.0	unscreened	-	4258_6:39053784-39053784 C>A_SSMKPLKCPTSSMSSGATAGSSMYT
15:85400937-85400937 G>C	0.0	4258	ENDOMETRIAL	-	-	-	-	ALPK3	NM_020778,p.G1192R|uc002ble.3,p.G1192R|ENST00000258888,p.G1192R	retained_intron, protein_coding	uc002ble.3	nonsynonymous SNV	exon6	c.G3574C	p.G1192R	AGGESQVGAATGGLVPSATLTPTVE	AGGESQVGAATGRLVPSATLTPTVE	4.0	7.0	-	-	4258_15:85400937-85400937 G>C_AGGESQVGAATGRLVPSATLTPTVE
13:58299091-58299091 C>A	0.0	4258	ENDOMETRIAL	-	-	-	-	PCDH17	NM_001040429,p.T1048N|ENST00000377918,p.T1048N|uc001vhr.1,p.T137N|uc010aec.1,p.T1047N|uc001vhq.1,p.T1048N	protein_coding, nonsense_mediated_decay	uc010aec.1	nonsynonymous SNV	exon4	c.C3140A	p.T1047N	SSSPTKACIEPCTSTKGSLDGCEAK	SSSPTKACIEPCNSTKGSLDGCEAK	5.0	10.0	-	-	4258_13:58299091-58299091 C>A_SSSPTKACIEPCNSTKGSLDGCEAK
7:131864676-131864676 C>A	0.0	4258	ENDOMETRIAL	-	-	-	-	PLXNA4	uc003vra.4,p.R1215L|ENST00000359827,p.R1215L|NM_020911,p.R1215L|ENST00000321063,p.R1215L	retained_intron, protein_coding	uc003vra.4	nonsynonymous SNV	exon20	c.G3644T	p.R1215L	SPNLIGRHKVMARVGGMEYSPGMVY	SPNLIGRHKVMALVGGMEYSPGMVY	3.0	9.0	unscreened	-	4258_7:131864676-131864676 C>A_SPNLIGRHKVMALVGGMEYSPGMVY
X:139038347-139038347 G>A	0.0	4258	ENDOMETRIAL	-	-	-	-	CXorf66	ENST00000370540,p.T265I|uc004fbb.3,p.T265I|NM_001013403,p.T265I	protein_coding	uc004fbb.3	nonsynonymous SNV	exon3	c.C794T	p.T265I	RAALLSNSELAETCQPYKKKHLVAK	RAALLSNSELAEICQPYKKKHLVAK	1.0	5.0	-	-	4258_X:139038347-139038347 G>A_RAALLSNSELAEICQPYKKKHLVAK
9:129856017-129856017 A>C	0.0	4258	ENDOMETRIAL	-	-	-	-	ANGPTL2	uc010mxg.1,p.Y34D|NM_012098,p.Y336D|uc004bqr.1,p.Y336D|ENST00000373417,p.Y34D|ENST00000373425,p.Y336D	protein_coding, processed_transcript	uc010mxg.1	nonsynonymous SNV	exon2	c.T100G	p.Y34D	DGSVNFFRNWETYKQGFGNIDGEYW	DGSVNFFRNWETDKQGFGNIDGEYW	8.0	10.0	-	-	4258_9:129856017-129856017 A>C_DGSVNFFRNWETDKQGFGNIDGEYW
8:7807627-7807627 T>A	0.0	4258	ENDOMETRIAL	-	-	-	-	ZNF705B	ENST00000400120,p.V71E|NM_001193630,p.V71E|ENST00000443676,p.V71E|uc010lro.1,p.V71E	protein_coding	uc010lro.1	nonsynonymous SNV	exon5	c.T212A	p.V71E	LEQGKELWWEGRVFLQDQNPDRESA	LEQGKELWWEGREFLQDQNPDRESA	1.0	5.0	unscreened	-	4258_8:7807627-7807627 T>A_LEQGKELWWEGREFLQDQNPDRESA
22:38120788-38120788 A>G	0.0	4258	ENDOMETRIAL	-	-	-	-	TRIOBP	ENST00000406386,p.D742G|uc003atq.1,p.D742G|NM_001039141,p.D742G|uc003ats.1,p.D570G|uc003atu.3,p.D570G|uc003atr.3,p.D742G	retained_intron, protein_coding, nonsense_mediated_decay	uc003atu.3	nonsynonymous SNV	exon5	c.A1709G	p.D570G	PRASSRNRTIQRDNPRTSCAQRDNP	PRASSRNRTIQRGNPRTSCAQRDNP	7.0	5.0	unscreened	-	4258_22:38120788-38120788 A>G_PRASSRNRTIQRGNPRTSCAQRDNP
12:63544475-63544475 C>G	0.0	4258	ENDOMETRIAL	-	-	-	-	AVPR1A	NM_000706,p.E48Q|uc001sro.2,p.E48Q|ENST00000299178,p.E48Q	protein_coding	uc001sro.2	nonsynonymous SNV	exon1	c.G142C	p.E48Q	GEGNGPPRDVRNEELAKLEIAVLAV	GEGNGPPRDVRNQELAKLEIAVLAV	2.0	9.0	-	-	4258_12:63544475-63544475 C>G_GEGNGPPRDVRNQELAKLEIAVLAV
4:183601828-183601828 G>A	0.0	4258	ENDOMETRIAL	-	-	-	-	TENM3	uc003ivd.1,p.G591E|ENST00000511685,p.G591E|NM_001080477,p.G591E|ENST00000406950,p.G591E	retained_intron, protein_coding, processed_transcript	uc003ivd.1	nonsynonymous SNV	exon9	c.G1772A	p.G591E	TTQCIDPQCGGRGICIMGSCACNSG	TTQCIDPQCGGREICIMGSCACNSG	6.0	4.0	-	-	4258_4:183601828-183601828 G>A_TTQCIDPQCGGREICIMGSCACNSG
3:51812844-51812844 G>T	0.0	4258	ENDOMETRIAL	-	-	-	-	IQCF6	ENST00000398780,p.T40N|NM_001143833,p.T40N|uc011bdv.2,p.T40N|uc021wyv.1,p.T40N	protein_coding	uc021wyv.1	nonsynonymous SNV	exon2	c.C119A	p.T40N	LEQRRRLALRLYTCQEWAVVKVQAQ	LEQRRRLALRLYNCQEWAVVKVQAQ	1.0	6.0	-	-	4258_3:51812844-51812844 G>T_LEQRRRLALRLYNCQEWAVVKVQAQ
X:86071037-86071037 A>T	0.0	4258	ENDOMETRIAL	-	-	-	-	DACH2	uc004eez.3,p.D245V|uc010nmr.2,p.D343V|ENST00000484479,p.D227V|uc004eey.3,p.D255V|NM_053281,p.D562V|uc011mra.1,p.D395V|ENST00000510272,p.D343V|ENST00000373125,p.D562V|NM_001139514,p.D549V|ENST00000508860,p.D395V|uc010nmq.2,p.D428V|uc004eex.2,p.D549V|ENST00000373131,p.D549V|NM_001139515,p.D395V|uc004eew.2,p.D562V	protein_coding, processed_transcript, nonsense_mediated_decay	uc011mra.1	nonsynonymous SNV	exon11	c.A1184T	p.D395V	ATTSDSGLRMLKDTGIPDIEIENNG	ATTSDSGLRMLKVTGIPDIEIENNG	1.0	9.0	unscreened	-	4258_X:86071037-86071037 A>T_ATTSDSGLRMLKVTGIPDIEIENNG
9:95099845-95099845 A>T	1.0	4258	ENDOMETRIAL	-	-	-	-	CENPP	NM_001012267,p.R104S|uc004arz.3,p.R104S|ENST00000375587,p.R104S	protein_coding	uc004arz.3	nonsynonymous SNV	exon3	c.A312T	p.R104S	EMTEKSIRKVLQRHRLSGNCHMVTF	EMTEKSIRKVLQSHRLSGNCHMVTF	6.0	8.0	unscreened	-	4258_9:95099845-95099845 A>T_EMTEKSIRKVLQSHRLSGNCHMVTF
17:38978449-38978449 C>T	0.0	4258	ENDOMETRIAL	-	-	-	-	KRT10	NM_000421,p.G130D|ENST00000269576,p.G130D|uc002hvi.3,p.G130D	protein_coding	uc002hvi.3	nonsynonymous SNV	exon1	c.G389A	p.G130D	GGGGFGGGGFGGGFGGGFGGDGGLL	GGGGFGGGGFGGDFGGGFGGDGGLL	7.0	10.0	-	-	4258_17:38978449-38978449 C>T_GGGGFGGGGFGGDFGGGFGGDGGLL
5:154395632-154395632 G>T	0.0	4258	ENDOMETRIAL	-	-	-	-	KIF4B	uc010jih.1,p.G738V|NM_001099293,p.G738V|ENST00000435029,p.G738V	protein_coding	uc010jih.1	nonsynonymous SNV	exon1	c.G2213T	p.G738V	DKRKETQSHGKEGIAARVRNWLGNE	DKRKETQSHGKEVIAARVRNWLGNE	2.0	3.0	unscreened	-	4258_5:154395632-154395632 G>T_DKRKETQSHGKEVIAARVRNWLGNE
9:95099843-95099843 A>G	1.0	4258	ENDOMETRIAL	-	-	-	-	CENPP	ENST00000375587,p.R104G|NM_001012267,p.R104G|uc004arz.3,p.R104G	protein_coding	uc004arz.3	nonsynonymous SNV	exon3	c.A310G	p.R104G	EMTEKSIRKVLQRHRLSGNCHMVTF	EMTEKSIRKVLQGHRLSGNCHMVTF	6.0	8.0	unscreened	-	4258_9:95099843-95099843 A>G_EMTEKSIRKVLQGHRLSGNCHMVTF
3:195512830-195512830 A>T	0.0	4258	ENDOMETRIAL	-	-	-	2	MUC4	ENST00000463781,p.L1874H|ENST00000466475,p.L1874H|ENST00000479406,p.L1874H|ENST00000478156,p.L1874H|ENST00000470451,p.L1874H|ENST00000462323,p.L1874H|NM_018406,p.L1874H|uc021xjp.1,p.L1874H|ENST00000475231,p.L1874H|ENST00000477086,p.L1874H|ENST00000480843,p.L1874H|ENST00000477756,p.L1874H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.T5621A	p.L1874H	ASSVSTGHATSLLVTDASSVSTGDT	ASSVSTGHATSLHVTDASSVSTGDT	3.0	1.0	unscreened	-	4258_3:195512830-195512830 A>T_ASSVSTGHATSLHVTDASSVSTGDT
2:101093724-101093724 A>G	0.0	4258	ENDOMETRIAL	-	-	-	-	NMS	uc002tan.1,p.K68E|ENST00000376865,p.K68E|NM_001011717,p.K68E	protein_coding	uc002tan.1	nonsynonymous SNV	exon4	c.A202G	p.K68E	LSRQPKDNQDIYKRFLFHYSRTQEA	LSRQPKDNQDIYERFLFHYSRTQEA	1.0	4.0	-	-	4258_2:101093724-101093724 A>G_LSRQPKDNQDIYERFLFHYSRTQEA
10:72534084-72534084 T>A	0.0	4258	ENDOMETRIAL	-	-	-	-	TBATA	uc010qjm.1,p.T269S|uc010qjn.1,p.T267S|ENST00000299290,p.T268S|uc001jrj.1,p.T268S|NM_152710,p.T268S	protein_coding	uc010qjn.1	nonsynonymous SNV	exon9	c.A799T	p.T267S	PKEKDLALGLLQTAVAQLLPQPLVS	PKEKDLALGLLQSAVAQLLPQPLVS	1.0	9.0	-	-	4258_10:72534084-72534084 T>A_PKEKDLALGLLQSAVAQLLPQPLVS
1:190067903-190067903 T>A	0.0	4258	ENDOMETRIAL	-	-	-	-	BRINP3	ENST00000367462,p.S516C|ENST00000534846,p.S414C|uc010pot.1,p.S414C|NM_199051,p.S516C|uc001gse.1,p.S516C	protein_coding, processed_transcript	uc010pot.1	nonsynonymous SNV	exon7	c.A1240T	p.S414C	TDRRIEVHAIFISNDMRLNSWFDPS	TDRRIEVHAIFICNDMRLNSWFDPS	1.0	7.0	-	-	4258_1:190067903-190067903 T>A_TDRRIEVHAIFICNDMRLNSWFDPS
8:72182030-72182030 G>T	0.0	4258	ENDOMETRIAL	-	-	-	-	EYA1	uc003xyv.3,p.T210K|NM_172059,p.T327K|uc003xys.4,p.T332K|NM_172060,p.T299K|NM_172058,p.T332K|NM_000503,p.T332K|uc003xyt.4,p.T299K|uc003xyr.4,p.T327K|ENST00000388742,p.T332K|ENST00000388740,p.T299K|uc010lzf.3,p.T259K|ENST00000388741,p.T298K|ENST00000340726,p.T332K|uc003xyu.3,p.T332K|NM_001288575,p.T210K|ENST00000388743,p.T331K|ENST00000303824,p.T326K|ENST00000419131,p.T327K|uc011lfe.2,p.T326K|NM_001288574,p.T326K	retained_intron, protein_coding, nonsense_mediated_decay	uc011lfe.2	nonsynonymous SNV	exon11	c.C977A	p.T326K	DLERVFIWDLDETIIVFHSLLTGSY	DLERVFIWDLDEKIIVFHSLLTGSY	2.0	3.0	-	-	4258_8:72182030-72182030 G>T_DLERVFIWDLDEKIIVFHSLLTGSY
6:24569093-24569093 C>A	0.0	4258	ENDOMETRIAL	-	-	-	-	KIAA0319	NM_001168375,p.V686L|uc010jpt.1,p.V97L|uc011djp.2,p.V641L|NM_001168376,p.V641L|ENST00000543707,p.V686L|ENST00000430948,p.V641L|uc003neh.1,p.V686L|NM_001252328,p.V97L|ENST00000535378,p.V677L|ENST00000378214,p.V686L|ENST00000537886,p.V686L|NM_001168377,p.V686L|uc011djr.1,p.V686L|uc011djo.2,p.V686L|NM_014809,p.V686L|NM_001168374,p.V677L|uc011djq.1,p.V677L	protein_coding	uc011djr.1	nonsynonymous SNV	exon13	c.G2056T	p.V686L	IDKAIATVTGLQVGTYHFRLTVKDQ	IDKAIATVTGLQLGTYHFRLTVKDQ	2.0	7.0	-	-	4258_6:24569093-24569093 C>A_IDKAIATVTGLQLGTYHFRLTVKDQ
15:101853605-101853605 C>T	0.0	4258	ENDOMETRIAL	-	-	-	-	PCSK6	ENST00000398185,p.G720D|ENST00000358417,p.G878D|uc010bpd.3,p.G688D|ENST00000348070,p.G891D	retained_intron, protein_coding, processed_transcript	uc010bpd.3	nonsynonymous SNV	exon17	c.G2063A	p.G688D	ACGEGFYPEEMPGLPHKVCRRCDEN	ACGEGFYPEEMPDLPHKVCRRCDEN	5.0	3.0	-	-	4258_15:101853605-101853605 C>T_ACGEGFYPEEMPDLPHKVCRRCDEN
11:62455313-62455313 C>G	0.0	4258	ENDOMETRIAL	-	-	-	-	LRRN4CL	uc021qkm.1,p.R223P|ENST00000317449,p.R223P|NM_203422,p.R223P|uc001nun.3,p.R223P	protein_coding	uc021qkm.1	nonsynonymous SNV	exon1	c.G668C	p.R223P	CAALVWHFCLRDRWGCPRRAAARAA	CAALVWHFCLRDPWGCPRRAAARAA	5.0	3.0	unscreened	-	4258_11:62455313-62455313 C>G_CAALVWHFCLRDPWGCPRRAAARAA
1:11562034-11562034 T>C	0.0	4258	ENDOMETRIAL	-	-	-	-	PTCHD2	uc001ash.4,p.S329P|NM_020780,p.S329P|uc001asi.1,p.S329P|ENST00000389575,p.S329P|ENST00000294484,p.S329P	protein_coding, processed_transcript	uc001asi.1	nonsynonymous SNV	exon1	c.T985C	p.S329P	KPHEVLKDLPLGSYSYCSPPSSLMT	KPHEVLKDLPLGPYSYCSPPSSLMT	3.0	6.0	-	-	4258_1:11562034-11562034 T>C_KPHEVLKDLPLGPYSYCSPPSSLMT
X:141291595-141291595 G>C	0.0	4258	ENDOMETRIAL	-	-	-	-	MAGEC2	uc022cfj.1,p.S60C|NM_016249,p.S60C|uc004fbu.2,p.S60C|ENST00000247452,p.S60C	protein_coding	uc022cfj.1	nonsynonymous SNV	exon1	c.C179G	p.S60C	LVFSPSSFSTSSSLILGGPEEEEVP	LVFSPSSFSTSSCLILGGPEEEEVP	1.0	4.0	-	-	4258_X:141291595-141291595 G>C_LVFSPSSFSTSSCLILGGPEEEEVP
5:128362980-128362980 G>T	0.0	4258	ENDOMETRIAL	-	-	-	-	SLC27A6	ENST00000262462,p.Q470H|ENST00000506176,p.Q470H|ENST00000395266,p.Q470H|NM_014031,p.Q470H|uc003kuz.3,p.Q470H|uc003kuy.3,p.Q470H|NM_001017372,p.Q470H	protein_coding	uc003kuz.3	nonsynonymous SNV	exon7	c.G1410T	p.Q470H	VYLNTGDLIVQDQDNFLYFWDRTGD	VYLNTGDLIVQDHDNFLYFWDRTGD	5.0	5.0	unscreened	-	4258_5:128362980-128362980 G>T_VYLNTGDLIVQDHDNFLYFWDRTGD
X:77244927-77244927 G>T	0.0	4258	ENDOMETRIAL	-	-	-	-	ATP7A	uc004ecx.4,p.S270I|NM_000052,p.S270I|ENST00000341514,p.S270I|NM_001282224,p.S270I|uc004ecw.2,p.S270I|ENST00000343533,p.S270I	protein_coding	uc004ecx.4	nonsynonymous SNV	exon4	c.G809T	p.S270I	TPVKSSEGSQQRSPSYTNDSTATFI	TPVKSSEGSQQRIPSYTNDSTATFI	5.0	3.0	-	-	4258_X:77244927-77244927 G>T_TPVKSSEGSQQRIPSYTNDSTATFI
X:45059879-45059879 C>T	0.0	4258	ENDOMETRIAL	-	-	-	-	CXorf36	uc004dgi.3,p.G65R|ENST00000377934,p.G65R|NM_176819,p.G65R|ENST00000398000,p.G65R|uc004dgg.2,p.G65R|NM_024689,p.G65R	protein_coding, processed_transcript	uc004dgi.3	nonsynonymous SNV	exon1	c.G193A	p.G65R	TFLGLDKCNACIGTSICKKFFKEEI	TFLGLDKCNACIRTSICKKFFKEEI	5.0	1.0	unscreened	-	4258_X:45059879-45059879 C>T_TFLGLDKCNACIRTSICKKFFKEEI
17:9631934-9631934 G>A	1.0	4258	ENDOMETRIAL	-	-	-	-	USP43	ENST00000285199,p.R1000K|uc010cod.4,p.R1000K|NM_001267576,p.R995K|uc002gmc.4,p.R512K|ENST00000570475,p.R995K|uc010coe.3,p.R797K|ENST00000570827,p.R689K|NM_153210,p.R1000K|uc010vva.3,p.R995K|uc002gma.4,p.R689K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vva.3	nonsynonymous SNV	exon15	c.G2984A	p.R995K	LDRPLQGTLTLLRSVFRKKENRRNE	LDRPLQGTLTLLKSVFRKKENRRNE	7.0	4.0	-	-	4258_17:9631934-9631934 G>A_LDRPLQGTLTLLKSVFRKKENRRNE
6:29012694-29012694 C>T	0.0	4258	ENDOMETRIAL	-	-	-	-	OR2W1	ENST00000377175,p.G87R|uc003nlw.2,p.G87R|NM_030903,p.G87R	protein_coding	uc003nlw.2	nonsynonymous SNV	exon1	c.G259A	p.G87R	TSIIPQMLVNLWGPDKTISYVGCII	TSIIPQMLVNLWRPDKTISYVGCII	1.0	4.0	unscreened	-	4258_6:29012694-29012694 C>T_TSIIPQMLVNLWRPDKTISYVGCII
17:79771459-79771459 C>T	0.0	4258	ENDOMETRIAL	-	-	-	-	GCGR	NM_000160,p.P443L|uc010wuw.2,p.P443L|ENST00000400723,p.P443L	retained_intron, protein_coding	uc010wuw.2	nonsynonymous SNV	exon14	c.C1328T	p.P443L	SNHRASSSPGHGPPSKELQFGRGGG	SNHRASSSPGHGLPSKELQFGRGGG	1.0	3.0	-	-	4258_17:79771459-79771459 C>T_SNHRASSSPGHGLPSKELQFGRGGG
19:10799966-10799966 G>A	1.0	4258	ENDOMETRIAL	-	-	-	-	ILF3	uc002mpq.3,p.A191T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mpq.3	nonsynonymous SNV	exon3	c.G571A	p.A191T	PHKAAMAETQTTA	PHKAAMAETQTTT	10.0	2.0	-	-	4258_19:10799966-10799966 G>A_PHKAAMAETQTTT
12:81768472-81768472 C>A	0.0	4258	ENDOMETRIAL	-	-	-	-	PPFIA2	uc031qik.1,p.A329S|NM_001220478,p.A304S|uc031qir.1,p.A403S|uc031qim.1,p.A403S|uc031qiv.1,p.A304S|uc031qin.1,p.A385S|uc031qix.1,p.A403S|uc031qiy.1,p.A403S|NM_001282536,p.A250S|uc031qiq.1,p.A385S|ENST00000333447,p.A385S|NM_003625,p.A403S|NM_001220473,p.A403S|ENST00000549396,p.A403S|uc031qiw.1,p.A403S|NM_001220474,p.A385S|ENST00000548586,p.A403S|ENST00000443686,p.A304S|uc031qip.1,p.A403S|uc031qis.1,p.A403S|uc031qil.1,p.A304S|ENST00000549325,p.A385S|uc031qiu.1,p.A329S|ENST00000550584,p.A403S|NM_001220477,p.A329S|NM_001220475,p.A403S|uc031qio.1,p.A403S|ENST00000550359,p.A250S|ENST00000552948,p.A403S|NM_001220476,p.A403S|ENST00000407050,p.A329S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qiy.1	nonsynonymous SNV	exon9	c.G1207T	p.A403S	LAEQKLQQTMRKAETLPEVEAELAQ	LAEQKLQQTMRKSETLPEVEAELAQ	4.0	9.0	-	-	4258_12:81768472-81768472 C>A_LAEQKLQQTMRKSETLPEVEAELAQ
9:23701443-23701443 ->A	0.0	4258	ENDOMETRIAL	-	-	-	-	ELAVL2	uc003zps.3,p.S216fs|uc003zpw.3,p.S216fs|ENST00000223951,p.S216fs|uc003zpt.3,p.S216fs|NM_001171195,p.S216fs|uc003zpv.3,p.S216fs|ENST00000397312,p.S216fs|NM_001171197,p.S216fs|ENST00000380117,p.S216fs|NM_004432,p.S216fs|ENST00000544538,p.S216fs|uc003zpu.3,p.S216fs|ENST00000380110,p.S245fs	protein_coding, processed_transcript	uc003zpw.3	frameshift insertion	exon5	c.646dupT	p.S216fs	NNPSQKTNQAILSQLYQSPNRRYPG	NNPSQKTNQAILFPAVPVSKQKVSRTASSAGTAF	1.0	6.0	unscreened	-	4258_9:23701443-23701443 ->A_NNPSQKTNQAILFPAVPVSKQKVSRTASSAGTAF
9:125487149-125487161 GGAACAAAGATAT>-	0.0	4258	ENDOMETRIAL	-	-	-	-	OR1L4	ENST00000259466,p.R294fs|NM_001005235,p.R294fs|uc004bmu.1,p.R294fs	protein_coding	uc004bmu.1	frameshift deletion	exon1	c.881_893del	p.R294fs	VTPMLNPFIYSLRNKDMKRGLKKLR	VTPMLNPFIYSLRKGV	1.0	10.0	-	-	4258_9:125487149-125487161 GGAACAAAGATAT>-_VTPMLNPFIYSLRKGV
12:48374443-48374443 C>A	0.0	4258	ENDOMETRIAL	-	-	-	1	COL2A1	NM_033150,p.G771V|ENST00000337299,p.G771V|NM_001844,p.G840V|uc001rqu.3,p.G840V|ENST00000380518,p.G840V|uc001rqv.3,p.G771V	retained_intron, protein_coding, processed_transcript	uc001rqv.3	nonsynonymous SNV	exon38	c.G2312T	p.G771V	GPPGPAGFAGPPGADGQPGAKGEQG	GPPGPAGFAGPPVADGQPGAKGEQG	1.0	2.0	unscreened	-	4258_12:48374443-48374443 C>A_GPPGPAGFAGPPVADGQPGAKGEQG
17:26851012-26851012 T>G	0.0	4258	ENDOMETRIAL	-	-	-	-	FOXN1	NM_003593,p.S9A|ENST00000579795,p.S9A|uc002hbj.3,p.S9A|ENST00000226247,p.S9A|uc010crm.3,p.S9A|ENST00000577936,p.S9A	protein_coding	uc010crm.3	nonsynonymous SNV	exon2	c.T25G	p.S9A	MVSLPPPQSDVTLPGPTRLEG	MVSLPPPQADVTLPGPTRLEG	1.0	8.0	-	-	4258_17:26851012-26851012 T>G_MVSLPPPQADVTLPGPTRLEG
3:157822911-157822911 C>A	0.0	4258	ENDOMETRIAL	-	-	-	-	SHOX2	uc003fbs.3,p.R118S|ENST00000389589,p.R118S|NM_003030,p.R118S	retained_intron, protein_coding	uc003fbs.3	nonsynonymous SNV	exon2	c.G354T	p.R118S	REPGSPRLTEGRRKPTKAEVQATLL	REPGSPRLTEGRSKPTKAEVQATLL	5.0	3.0	unscreened	-	4258_3:157822911-157822911 C>A_REPGSPRLTEGRSKPTKAEVQATLL
5:40853269-40853269 G>A	0.0	4258	ENDOMETRIAL	-	-	-	-	CARD6	ENST00000254691,p.R612K|NM_032587,p.R612K|uc003jmg.3,p.R612K	protein_coding	uc003jmg.3	nonsynonymous SNV	exon3	c.G1835A	p.R612K	LNLKPAQLLFWERGDAGDRRKNMEG	LNLKPAQLLFWEKGDAGDRRKNMEG	5.0	1.0	unscreened	-	4258_5:40853269-40853269 G>A_LNLKPAQLLFWEKGDAGDRRKNMEG
4:3449980-3449980 G>C	1.0	4258	ENDOMETRIAL	-	-	-	-	HGFAC	uc010icw.3,p.D595H|NM_001297439,p.D595H|uc003ghc.3,p.D588H|ENST00000511533,p.D595H|ENST00000382774,p.D588H|NM_001528,p.D588H	retained_intron, protein_coding	uc010icw.3	nonsynonymous SNV	exon14	c.G1783C	p.D595H	DISPNMLCAGYFDCKSDACQGDSGG	DISPNMLCAGYFHCKSDACQGDSGG	4.0	7.0	-	-	4258_4:3449980-3449980 G>C_DISPNMLCAGYFHCKSDACQGDSGG
3:65425644-65425644 C>T	1.0	4258	ENDOMETRIAL	-	-	-	-	MAGI1	ENST00000483466,p.A394T|ENST00000463103,p.A269T|uc003dmm.3,p.A394T|uc003dmp.3,p.A394T|NM_004742,p.A394T|uc010hny.2,p.A279T|ENST00000402939,p.A394T|NM_015520,p.A394T|uc003dmo.3,p.A394T|uc003dmn.3,p.A394T|uc021xac.1,p.A395T|ENST00000479287,p.A144T|ENST00000330909,p.A394T|ENST00000497477,p.A394T|NM_001033057,p.A394T|ENST00000472257,p.A180T	retained_intron, protein_coding, processed_transcript	uc021xac.1	nonsynonymous SNV	exon9	c.G1183A	p.A395T	NRKTQYENPVLEAKRKKQLEQQQQQ	NRKTQYENPVLETKRKKQLEQQQQQ	6.0	9.0	-	-	4258_3:65425644-65425644 C>T_NRKTQYENPVLETKRKKQLEQQQQQ
3:164714412-164714412 T>G	0.0	4258	ENDOMETRIAL	-	-	-	-	SI	uc003fei.3,p.N1535H|NM_001041,p.N1535H|ENST00000264382,p.N1535H	retained_intron, protein_coding, nonsense_mediated_decay	uc003fei.3	nonsynonymous SNV	exon40	c.A4603C	p.N1535H	MSYTGADICGFFNNSEYHLCTRWMQ	MSYTGADICGFFHNSEYHLCTRWMQ	1.0	5.0	-	-	4258_3:164714412-164714412 T>G_MSYTGADICGFFHNSEYHLCTRWMQ
X:118109431-118109431 A>C	0.0	4258	ENDOMETRIAL	-	-	-	-	LONRF3	ENST00000365713,p.S230R|ENST00000481285,p.S230R|NM_024778,p.S230R|ENST00000304778,p.S230R|NM_001031855,p.S230R|uc004eqw.3,p.S230R|uc004eqx.3,p.S230R|ENST00000371628,p.S230R	protein_coding, processed_transcript, nonsense_mediated_decay	uc004eqx.3	nonsynonymous SNV	exon1	c.A688C	p.S230R	QPPPPLRVNVVLSGLLGKLFPGPAR	QPPPPLRVNVVLRGLLGKLFPGPAR	5.0	6.0	unscreened	-	4258_X:118109431-118109431 A>C_QPPPPLRVNVVLRGLLGKLFPGPAR
2:233409212-233409212 C>T	0.0	4258	ENDOMETRIAL	-	-	-	-	CHRNG	ENST00000389492,p.L339F|ENST00000389494,p.L391F|NM_005199,p.L391F|uc010fye.1,p.L339F|uc002vsx.1,p.L391F	retained_intron, protein_coding	uc010fye.1	nonsynonymous SNV	exon9	c.C1015T	p.L339F	SGWSITTGEEVALCLPRSELLFQQW	SGWSITTGEEVAFCLPRSELLFQQW	4.0	5.0	-	-	4258_2:233409212-233409212 C>T_SGWSITTGEEVAFCLPRSELLFQQW
6:70608903-70608903 T>A	0.0	4258	ENDOMETRIAL	-	-	-	-	COL19A1	NM_001858,p.L52H|uc003pfc.1,p.L52H|ENST00000322773,p.L52H	protein_coding, processed_transcript	uc003pfc.1	nonsynonymous SNV	exon3	c.T155A	p.L52H	EGHQLTYDNINKLEVSGFDLGDSFS	EGHQLTYDNINKHEVSGFDLGDSFS	4.0	8.0	-	-	4258_6:70608903-70608903 T>A_EGHQLTYDNINKHEVSGFDLGDSFS
X:118109432-118109432 G>T	0.0	4258	ENDOMETRIAL	-	-	-	-	LONRF3	ENST00000365713,p.S230I|uc004eqx.3,p.S230I|NM_001031855,p.S230I|NM_024778,p.S230I|uc004eqw.3,p.S230I|ENST00000481285,p.S230I|ENST00000371628,p.S230I|ENST00000304778,p.S230I	protein_coding, processed_transcript, nonsense_mediated_decay	uc004eqx.3	nonsynonymous SNV	exon1	c.G689T	p.S230I	QPPPPLRVNVVLSGLLGKLFPGPAR	QPPPPLRVNVVLIGLLGKLFPGPAR	5.0	6.0	unscreened	-	4258_X:118109432-118109432 G>T_QPPPPLRVNVVLIGLLGKLFPGPAR
6:10874250-10874250 G>T	0.0	4258	ENDOMETRIAL	-	-	-	-	GCM2	NM_004752,p.T500N|uc003mzn.4,p.T500N|ENST00000379491,p.T500N	protein_coding	uc003mzn.4	nonsynonymous SNV	exon5	c.C1499A	p.T500N	AVSYSDRVGPFFTYNNEDF	AVSYSDRVGPFFNYNNEDF	1.0	7.0	-	-	4258_6:10874250-10874250 G>T_AVSYSDRVGPFFNYNNEDF
3:195508402-195508402 G>T	0.0	4258	ENDOMETRIAL	-	-	-	2	MUC4	ENST00000480843,p.T3350N|ENST00000477756,p.T3350N|uc021xjp.1,p.T3350N|NM_018406,p.T3350N|ENST00000479406,p.T3350N|ENST00000463781,p.T3350N|ENST00000466475,p.T3350N|ENST00000475231,p.T3350N|ENST00000462323,p.T3350N|ENST00000470451,p.T3350N|ENST00000478156,p.T3350N|ENST00000477086,p.T3350N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C10049A	p.T3350N	STGDTTPVPVTDTSSVSTGHATPLP	STGDTTPVPVTDNSSVSTGHATPLP	3.0	3.0	unscreened	-	4258_3:195508402-195508402 G>T_STGDTTPVPVTDNSSVSTGHATPLP
6:10874999-10874999 A>T	0.0	4258	ENDOMETRIAL	-	-	-	-	GCM2	ENST00000379491,p.F250L|NM_004752,p.F250L|uc003mzn.4,p.F250L	protein_coding	uc003mzn.4	nonsynonymous SNV	exon5	c.T750A	p.F250L	SDVYKATCDLATFQGDKMPPFQKYS	SDVYKATCDLATLQGDKMPPFQKYS	1.0	7.0	-	-	4258_6:10874999-10874999 A>T_SDVYKATCDLATLQGDKMPPFQKYS
17:39183329-39183329 G>A	0.0	4258	ENDOMETRIAL	-	-	-	-	KRTAP1-5	NM_031957,p.P27S|uc002hvu.3,p.P27S|ENST00000361883,p.P27S	protein_coding	uc002hvu.3	nonsynonymous SNV	exon1	c.C79T	p.P27S	SISGTCGSSCCQPSCCETSCCQPRS	SISGTCGSSCCQSSCCETSCCQPRS	1.0	10.0	-	-	4258_17:39183329-39183329 G>A_SISGTCGSSCCQSSCCETSCCQPRS
8:116599500-116599500 C>A	0.0	4258	ENDOMETRIAL	-	-	-	-	TRPS1	ENST00000395715,p.A810S|NM_001282903,p.A803S|uc011lhy.2,p.A801S|ENST00000220888,p.A797S|NM_014112,p.A810S|uc010mcy.3,p.A797S|NM_001282902,p.A801S|uc003ynz.3,p.A797S|ENST00000519076,p.A551S|ENST00000519674,p.A797S|ENST00000520276,p.A801S|ENST00000517323,p.A601S|uc003yny.3,p.A810S	protein_coding, nonsense_mediated_decay	uc011lhy.2	nonsynonymous SNV	exon4	c.G2401T	p.A801S	SSDDLRNVTWRGADILRGSPSYTQA	SSDDLRNVTWRGSDILRGSPSYTQA	7.0	6.0	-	-	4258_8:116599500-116599500 C>A_SSDDLRNVTWRGSDILRGSPSYTQA
15:23000161-23000216 GGCGTTTTGCTGTGCTGGATTTCTGCTACCATCTACTTAAAGTCCAGAAACATGAT>-	0.0	4258	ENDOMETRIAL	-	-	-	-	CYFIP1	uc001yus.3,p.R1172fs|NM_001287810,p.R1172fs|ENST00000560848,p.R1172fs|NM_001033028,p.R741fs|uc001yuu.3,p.R741fs|NM_014608,p.R1172fs|ENST00000435939,p.R741fs|ENST00000561263,p.R146fs|uc001yut.3,p.R1172fs|uc001yuv.3,p.R366fs|ENST00000313077,p.R1172fs	retained_intron, protein_coding, nonsense_mediated_decay	uc001yuv.3	frameshift deletion	exon9	c.1097_1152del	p.R366fs	AGCMIIVLLGQQRRFAVLDFCYHLL	AGCMIIVLLGQQRQR	9.0	1.0	-	-	4258_15:23000161-23000216 GGCGTTTTGCTGTGCTGGATTTCTGCTACCATCTACTTAAAGTCCAGAAACATGAT>-_AGCMIIVLLGQQRQR
10:72534084-72534084 T>A	0.0	4258	ENDOMETRIAL	-	-	-	-	TBATA	ENST00000456372,p.R240S	protein_coding	ENST00000456372	nonsynonymous SNV	exon6	c.A720T	p.R240S	ELLKKTSLWDSCRQQWLSSFPSP	ELLKKTSLWDSCSQQWLSSFPSP	1.0	9.0	-	-	4258_10:72534084-72534084 T>A_ELLKKTSLWDSCSQQWLSSFPSP
11:55135435-55135435 C>A	0.0	4258	ENDOMETRIAL	-	-	-	-	OR4A15	uc010rif.2,p.P26T|ENST00000314706,p.P26T|NM_001005275,p.P26T	protein_coding	uc010rif.2	nonsynonymous SNV	exon1	c.C76A	p.P26T	PFVCRLRHLSPTPSEEHMKNKNNVT	PFVCRLRHLSPTTSEEHMKNKNNVT	1.0	1.0	unscreened	-	4258_11:55135435-55135435 C>A_PFVCRLRHLSPTTSEEHMKNKNNVT
3:183436378-183436378 G>C	0.0	4258	ENDOMETRIAL	-	-	-	-	YEATS2	uc003fly.2,p.E97Q|ENST00000305135,p.E97Q|NM_018023,p.E97Q	retained_intron, protein_coding	uc003fly.2	nonsynonymous SNV	exon4	c.G289C	p.E97Q	NYYASAGLLKVSEGSKTCDTMVFNH	NYYASAGLLKVSQGSKTCDTMVFNH	8.0	5.0	-	-	4258_3:183436378-183436378 G>C_NYYASAGLLKVSQGSKTCDTMVFNH
14:20345299-20345299 T>A	0.0	4258	ENDOMETRIAL	-	-	-	-	OR4K2	uc001vwh.1,p.N291K|ENST00000298642,p.N291K|NM_001005501,p.N291K	protein_coding	uc001vwh.1	nonsynonymous SNV	exon1	c.T873A	p.N291K	TPTLNPIIYTLRNQEVKIAMRKLKN	TPTLNPIIYTLRKQEVKIAMRKLKN	1.0	2.0	unscreened	-	4258_14:20345299-20345299 T>A_TPTLNPIIYTLRKQEVKIAMRKLKN
15:90190892-90190892 G>C	0.0	4258	ENDOMETRIAL	-	-	-	-	KIF7	ENST00000394412,p.L499V|uc002bof.2,p.L499V|NM_198525,p.L499V	protein_coding, processed_transcript, nonsense_mediated_decay	uc002bof.2	nonsynonymous SNV	exon6	c.C1495G	p.L499V	QQLLTLQNQVARLEEENRDFLAALE	QQLLTLQNQVARVEEENRDFLAALE	5.0	4.0	-	-	4258_15:90190892-90190892 G>C_QQLLTLQNQVARVEEENRDFLAALE
3:27763340-27763340 G>A	0.0	4258	ENDOMETRIAL	-	-	-	-	EOMES	ENST00000449599,p.P149L|NM_001278182,p.P149L|uc003cdy.4,p.P149L|uc003cdx.4,p.P149L|ENST00000295743,p.P149L|uc010hfn.3,p.P149L|NM_005442,p.P149L	protein_coding, processed_transcript	uc010hfn.3	nonsynonymous SNV	exon1	c.C446T	p.P149L	DSLSSERYYLQSPGPQGSELAAPCS	DSLSSERYYLQSLGPQGSELAAPCS	5.0	4.0	-	-	4258_3:27763340-27763340 G>A_DSLSSERYYLQSLGPQGSELAAPCS
4:66280083-66280083 A>C	0.0	4258	ENDOMETRIAL	-	-	-	-	EPHA5	uc011cai.2,p.Y536D|uc003hcz.3,p.Y536D|NM_004439,p.Y536D|NM_001281767,p.Y536D|NM_001281765,p.Y536D|NM_182472,p.Y536D|ENST00000511294,p.Y536D|uc011cah.2,p.Y536D|ENST00000354839,p.Y536D|uc003hcy.3,p.Y536D|NM_001281766,p.Y536D|ENST00000432638,p.Y372D|ENST00000273854,p.Y536D|uc003hda.2,p.Y536D|uc003hcx.3,p.Y467D	protein_coding	uc011cai.2	nonsynonymous SNV	exon7	c.T1606G	p.Y536D	TITAEGLKPASVYVFQIRARTAAGY	TITAEGLKPASVDVFQIRARTAAGY	1.0	7.0	-	-	4258_4:66280083-66280083 A>C_TITAEGLKPASVDVFQIRARTAAGY
13:103326668-103326668 C>A	1.0	4258	ENDOMETRIAL	-	-	-	-	TPP2	uc001vpi.4,p.A1123D|ENST00000376065,p.A1123D|ENST00000376052,p.A1136D|NM_003291,p.A1123D	protein_coding, processed_transcript	uc001vpi.4	nonsynonymous SNV	exon27	c.C3368A	p.A1123D	NDMDKQKSTLVDALCRKGCALADHL	NDMDKQKSTLVDDLCRKGCALADHL	8.0	7.0	unscreened	-	4258_13:103326668-103326668 C>A_NDMDKQKSTLVDDLCRKGCALADHL
7:77408022-77408022 A>G	1.0	4258	ENDOMETRIAL	-	-	-	-	RSBN1L	uc010ldt.1,p.Y693C|ENST00000445288,p.Y423C|NM_198467,p.Y693C|ENST00000334955,p.Y693C	retained_intron, protein_coding	uc010ldt.1	nonsynonymous SNV	exon8	c.A2078G	p.Y693C	VCSLAWHIRLKLYHSEEDTSQNTAT	VCSLAWHIRLKLCHSEEDTSQNTAT	8.0	4.0	-	-	4258_7:77408022-77408022 A>G_VCSLAWHIRLKLCHSEEDTSQNTAT
X:48559020-48559020 G>A	0.0	4258	ENDOMETRIAL	-	-	-	-	SUV39H1	ENST00000376687,p.R235H|uc004dkn.3,p.R235H|uc011mmf.2,p.R246H|NM_001282166,p.R246H|ENST00000337852,p.R246H|NM_003173,p.R235H	retained_intron, protein_coding, processed_transcript	uc011mmf.2	nonsynonymous SNV	exon3	c.G737A	p.R246H	NSRCRCGYDCPNRVVQKGIRYDLCI	NSRCRCGYDCPNHVVQKGIRYDLCI	7.0	6.0	-	-	4258_X:48559020-48559020 G>A_NSRCRCGYDCPNHVVQKGIRYDLCI
1:201180471-201180471 G>T	0.0	4258	ENDOMETRIAL	-	-	-	-	IGFN1	NM_001164586,p.K2150N|ENST00000335211,p.K2150N|uc001gwc.3,p.K2150N	retained_intron, protein_coding, nonsense_mediated_decay	uc001gwc.3	nonsynonymous SNV	exon12	c.G6450T	p.K2150N	NEAGYRKDLGAPKGMGSESKAGFRD	NEAGYRKDLGAPNGMGSESKAGFRD	6.0	5.0	unscreened	-	4258_1:201180471-201180471 G>T_NEAGYRKDLGAPNGMGSESKAGFRD
X:84526811-84526811 C>G	0.0	4258	ENDOMETRIAL	-	-	-	-	ZNF711	uc004eeq.3,p.H801D|NM_021998,p.H755D|ENST00000395402,p.H763D|ENST00000360700,p.H801D|uc011mqy.1,p.H354D|ENST00000373165,p.H755D|ENST00000276123,p.H755D|uc004eep.3,p.H755D|ENST00000542798,p.H597D|uc004eeo.3,p.H755D	protein_coding	uc011mqy.1	nonsynonymous SNV	exon3	c.C1060G	p.H354D	RRPSEKNQHIMRHHKEALM	RRPSEKNQHIMRDHKEALM	1.0	5.0	unscreened	-	4258_X:84526811-84526811 C>G_RRPSEKNQHIMRDHKEALM
3:100972573-100972573 A>C	0.0	4258	ENDOMETRIAL	-	-	-	-	IMPG2	uc003duq.2,p.S402R|NM_016247,p.S402R|uc011bhe.2,p.S265R|ENST00000193391,p.S402R	protein_coding	uc011bhe.2	nonsynonymous SNV	exon10	c.T795G	p.S265R	RHQTEDLVWNTQSSSLQATPSSILD	RHQTEDLVWNTQRSSLQATPSSILD	1.0	1.0	unscreened	-	4258_3:100972573-100972573 A>C_RHQTEDLVWNTQRSSLQATPSSILD
6:11103994-11103994 G>A	0.0	4258	ENDOMETRIAL	-	-	-	-	ERVFRD-1	uc003mzt.3,p.A517V|NM_207582,p.A517V|ENST00000542862,p.A517V|ENST00000472091,p.A517V|uc021ylp.1,p.A517V	protein_coding	uc021ylp.1	nonsynonymous SNV	exon1	c.C1550T	p.A517V	NLITQFVSSRLQAIKLQTNLSAGRH	NLITQFVSSRLQVIKLQTNLSAGRH	1.0	6.0	-	-	4258_6:11103994-11103994 G>A_NLITQFVSSRLQVIKLQTNLSAGRH
1:109238358-109238358 G>A	1.0	4258	ENDOMETRIAL	-	-	-	-	PRPF38B	ENST00000370022,p.R104K|uc001dvv.4,p.R104K|ENST00000370025,p.R104K|NM_018061,p.R104K	protein_coding, processed_transcript	uc001dvv.4	nonsynonymous SNV	exon2	c.G311A	p.R104K	KVTHVEPWEKGSRKTAGQTGMCGGV	KVTHVEPWEKGSKKTAGQTGMCGGV	8.0	7.0	-	-	4258_1:109238358-109238358 G>A_KVTHVEPWEKGSKKTAGQTGMCGGV
X:123775641-123775641 C>T	0.0	4258	ENDOMETRIAL	-	-	-	-	TENM1	NM_014253,p.E693K|uc010nqy.3,p.E693K|NM_001163278,p.E693K|ENST00000371130,p.E693K|NM_001163279,p.E692K|uc004euj.3,p.E693K|ENST00000422452,p.E693K|uc011muj.2,p.E692K	protein_coding, processed_transcript	uc011muj.2	nonsynonymous SNV	exon11	c.G2074A	p.E692K	CDPKWTGSDCSTELCTMECGSHGVC	CDPKWTGSDCSTKLCTMECGSHGVC	1.0	4.0	unscreened	-	4258_X:123775641-123775641 C>T_CDPKWTGSDCSTKLCTMECGSHGVC
1:152488073-152488073 A>T	0.0	4258	ENDOMETRIAL	-	-	-	-	CRCT1	NM_019060,p.S72C|uc021oyy.1,p.S72C|uc001ezz.3,p.S72C|ENST00000368790,p.S72C	protein_coding	uc021oyy.1	nonsynonymous SNV	exon1	c.A214T	p.S72C	CCCFPRRRRRQRSSGCCCCGGGSQR	CCCFPRRRRRQRCSGCCCCGGGSQR	1.0	5.0	-	-	4258_1:152488073-152488073 A>T_CCCFPRRRRRQRCSGCCCCGGGSQR
X:153284442-153284442 G>T	0.0	4258	ENDOMETRIAL	-	-	-	-	IRAK1	ENST00000444230,p.A171D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000444230	nonsynonymous SNV	exon4	c.C512A	p.A171D	SPASLWPPPPSPAPSSTKQDPVSKR	SPASLWPPPPSPDPSSTKQDPVSKR	10.0	3.0	-	-	4258_X:153284442-153284442 G>T_SPASLWPPPPSPDPSSTKQDPVSKR
3:58260436-58260482 AGGGCTCTGCCGCCGTGGAGAAGATTCCCTTGATCCCGTCTACCCCA>-	0.0	4258	ENDOMETRIAL	-	-	-	-	ABHD6	uc003djs.4,p.Q192fs|ENST00000463756,p.Q192fs|NM_020676,p.Q192fs|uc003djt.4,p.Q192fs|ENST00000295962,p.Q192fs|ENST00000478253,p.Q192fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003djt.4	frameshift deletion	exon7	c.575_621del	p.Q192fs	TDNQFVQRLKELQGSAAVEKIPLIP	TDNQFVQRLKELRRDE	6.0	2.0	unscreened	-	4258_3:58260436-58260482 AGGGCTCTGCCGCCGTGGAGAAGATTCCCTTGATCCCGTCTACCCCA>-_TDNQFVQRLKELRRDE
19:4323619-4323619 C>G	0.0	4258	ENDOMETRIAL	-	-	-	-	FSD1	NM_024333,p.S490R|uc002lzy.2,p.S490R|uc002maa.2,p.S303R|ENST00000221856,p.S490R	retained_intron, protein_coding, processed_transcript	uc002maa.2	nonsynonymous SNV	exon7	c.C909G	p.S303R	VRCLQKRGSATSSSNTSLT	VRCLQKRGSATSRSNTSLT	3.0	8.0	-	-	4258_19:4323619-4323619 C>G_VRCLQKRGSATSRSNTSLT
4:144387378-144387378 G>T	0.0	4258	ENDOMETRIAL	-	-	-	-	GAB1	uc011chq.2,p.K539N|uc003ije.3,p.K642N|ENST00000505913,p.K539N|ENST00000262995,p.K672N|NM_207123,p.K672N|ENST00000262994,p.K642N|NM_002039,p.K642N|uc003ijd.3,p.K672N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011chq.2	nonsynonymous SNV	exon9	c.G1617T	p.K539N	LDLDSGKSTPPRKQKSSGSGSSVAD	LDLDSGKSTPPRNQKSSGSGSSVAD	6.0	2.0	unscreened	-	4258_4:144387378-144387378 G>T_LDLDSGKSTPPRNQKSSGSGSSVAD
3:195511886-195511886 G>C	0.0	4258	ENDOMETRIAL	-	-	-	2	MUC4	ENST00000480843,p.H2189D|ENST00000466475,p.H2189D|NM_018406,p.H2189D|ENST00000463781,p.H2189D|ENST00000479406,p.H2189D|ENST00000475231,p.H2189D|uc021xjp.1,p.H2189D|ENST00000478156,p.H2189D|ENST00000470451,p.H2189D|ENST00000462323,p.H2189D|ENST00000477086,p.H2189D|ENST00000477756,p.H2189D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C6565G	p.H2189D	LPVTDTSSASTGHATPLPVTDTSSA	LPVTDTSSASTGDATPLPVTDTSSA	3.0	2.0	unscreened	-	4258_3:195511886-195511886 G>C_LPVTDTSSASTGDATPLPVTDTSSA
8:68396015-68396015 C>G	0.0	4258	ENDOMETRIAL	-	-	-	-	CPA6	ENST00000518549,p.V276L|uc003xxs.2,p.V276L	protein_coding, nonsense_mediated_decay	uc003xxs.2	nonsynonymous SNV	exon8	c.G826C	p.V276L	RCRGVDANRNWKVKWCGKFGTNWDP	RCRGVDANRNWKLKWCGKFGTNWDP	1.0	8.0	-	-	4258_8:68396015-68396015 C>G_RCRGVDANRNWKLKWCGKFGTNWDP
X:153284442-153284442 G>T	0.0	4258	ENDOMETRIAL	-	-	-	-	IRAK1	NM_001569,p.A175D|ENST00000369980,p.A175D|NM_001025243,p.A175D|ENST00000429936,p.A201D|uc004fjr.1,p.A175D|ENST00000393687,p.A175D|uc004fjs.1,p.A175D|ENST00000369973,p.A201D|ENST00000369974,p.A175D|uc004fju.2,p.A201D|ENST00000393682,p.A201D|uc004fjt.1,p.A175D|NM_001025242,p.A175D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004fju.2	nonsynonymous SNV	exon3	c.C602A	p.A201D	SPASLWPPPPSPAPSSTKPGPESSV	SPASLWPPPPSPDPSSTKPGPESSV	10.0	3.0	-	-	4258_X:153284442-153284442 G>T_SPASLWPPPPSPDPSSTKPGPESSV
8:68396015-68396015 C>G	0.0	4258	ENDOMETRIAL	-	-	-	-	CPA6	NM_020361,p.V276L|uc003xxq.4,p.V276L|ENST00000297770,p.V276L	protein_coding, nonsense_mediated_decay	uc003xxq.4	nonsynonymous SNV	exon8	c.G826C	p.V276L	RCRGVDANRNWKVKWCDEGASMHPC	RCRGVDANRNWKLKWCDEGASMHPC	1.0	8.0	-	-	4258_8:68396015-68396015 C>G_RCRGVDANRNWKLKWCDEGASMHPC
1:158639560-158639560 G>T	0.0	4258	ENDOMETRIAL	-	-	-	-	SPTA1	uc001fst.1,p.A539E|ENST00000368147,p.A539E|NM_003126,p.A539E|ENST00000368148,p.A539E	protein_coding, processed_transcript	uc001fst.1	nonsynonymous SNV	exon13	c.C1616A	p.A539E	AQEEKIITVDKTATKLIGDDHYDSE	AQEEKIITVDKTETKLIGDDHYDSE	2.0	8.0	-	-	4258_1:158639560-158639560 G>T_AQEEKIITVDKTETKLIGDDHYDSE
6:29394503-29394503 G>C	0.0	4258	ENDOMETRIAL	-	-	-	-	OR11A1	ENST00000377147,p.L306V|NM_013937,p.L306V|ENST00000377149,p.L306V|ENST00000377148,p.L306V|uc003nmg.3,p.L306V	protein_coding	uc003nmg.3	nonsynonymous SNV	exon1	c.C916G	p.L306V	RNKEVHQALRKILCIKQTETLD	RNKEVHQALRKIVCIKQTETLD	1.0	3.0	unscreened	-	4258_6:29394503-29394503 G>C_RNKEVHQALRKIVCIKQTETLD
17:42978943-42978943 G>A	0.0	4258	ENDOMETRIAL	-	-	-	-	CCDC103	NM_001258398,p.G67R|uc031raw.1,p.G67R|uc002iho.4,p.G67R|ENST00000410027,p.G67R|NM_001258397,p.G67R|ENST00000410006,p.G67R|uc031rax.1,p.G67R|ENST00000417826,p.G67R|uc031raz.1,p.G67R|NM_001258399,p.G67R|NM_001258396,p.G67R|ENST00000357776,p.G67R|NM_001258395,p.G67R|uc031ray.1,p.G67R|NM_213607,p.G67R|uc031rba.1,p.G67R	protein_coding	uc031rba.1	nonsynonymous SNV	exon3	c.G199A	p.G67R	HLKPLERKDKMGGKRTVPWNCHTIQ	HLKPLERKDKMGRKRTVPWNCHTIQ	4.0	2.0	unscreened	-	4258_17:42978943-42978943 G>A_HLKPLERKDKMGRKRTVPWNCHTIQ
7:141921801-141921801 C>A	0.0	4258	ENDOMETRIAL	-	-	-	-	LOC93432	ENST00000477922,p.T2497N|NM_001293626,p.T2497N	retained_intron, protein_coding	NM_001293626	nonsynonymous SNV	exon48	c.C7490A	p.T2497N	ALNTTTPDSTVHTSATAPTYIANAI	ALNTTTPDSTVHNSATAPTYIANAI	1.0	7.0	-	-	4258_7:141921801-141921801 C>A_ALNTTTPDSTVHNSATAPTYIANAI
8:68396015-68396015 C>G	0.0	4258	ENDOMETRIAL	-	-	-	-	CPA6	uc003xxr.4,p.V128L|ENST00000297769,p.V128L	protein_coding, nonsense_mediated_decay	uc003xxr.4	nonsynonymous SNV	exon7	c.G382C	p.V128L	RCRGVDANRNWKVKWCDVSSGSSMD	RCRGVDANRNWKLKWCDVSSGSSMD	1.0	8.0	-	-	4258_8:68396015-68396015 C>G_RCRGVDANRNWKLKWCDVSSGSSMD
3:195510880-195510880 C>T	0.0	4258	ENDOMETRIAL	-	-	-	2	MUC4	ENST00000466475,p.G2524D|ENST00000475231,p.G2524D|NM_018406,p.G2524D|ENST00000462323,p.G2524D|ENST00000477756,p.G2524D|ENST00000470451,p.G2524D|ENST00000477086,p.G2524D|ENST00000463781,p.G2524D|ENST00000479406,p.G2524D|uc021xjp.1,p.G2524D|ENST00000478156,p.G2524D|ENST00000480843,p.G2524D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G7571A	p.G2524D	PLPVTDTPSASTGDTTPLPVTNASS	PLPVTDTPSASTDDTTPLPVTNASS	3.0	5.0	unscreened	-	4258_3:195510880-195510880 C>T_PLPVTDTPSASTDDTTPLPVTNASS
1:244217796-244217796 G>T	0.0	4258	ENDOMETRIAL	-	-	-	-	ZBTB18	NM_006352,p.R231S|ENST00000358704,p.R240S|uc001iad.5,p.R240S|uc031psv.1,p.R231S|uc001iae.4,p.R231S|NM_001278196,p.R231S|NM_205768,p.R240S	protein_coding	uc031psv.1	nonsynonymous SNV	exon2	c.G693T	p.R231S	TESLSQRSVTSVRDSADVDCVLDLS	TESLSQRSVTSVSDSADVDCVLDLS	5.0	3.0	-	-	4258_1:244217796-244217796 G>T_TESLSQRSVTSVSDSADVDCVLDLS
5:39119072-39119072 C>T	0.0	4258	ENDOMETRIAL	-	-	-	-	FYB	uc003jlu.3,p.G723R|NM_001465,p.G769R|ENST00000512982,p.G769R|ENST00000515010,p.G723R|uc011cpl.2,p.G779R|NM_001243093,p.G779R|uc003jls.3,p.G723R|ENST00000351578,p.G723R|ENST00000505428,p.G769R|ENST00000540520,p.G779R|NM_199335,p.G723R|uc003jlt.3,p.G769R	protein_coding, processed_transcript	uc011cpl.2	nonsynonymous SNV	exon16	c.G2335A	p.G779R	TKVTTSITSKKWGTRDLQVKPGESL	TKVTTSITSKKWRTRDLQVKPGESL	7.0	6.0	-	-	4258_5:39119072-39119072 C>T_TKVTTSITSKKWRTRDLQVKPGESL
1:152276797-152276797 C>A	1.0	4258	ENDOMETRIAL	-	-	-	-	FLG	NM_002016,p.G3522V|ENST00000368799,p.G3522V|uc001ezu.1,p.G3522V	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.G10565T	p.G3522V	STQADSSRHSQSGQGQSAGPRTSRN	STQADSSRHSQSVQGQSAGPRTSRN	5.0	6.0	-	-	4258_1:152276797-152276797 C>A_STQADSSRHSQSVQGQSAGPRTSRN
2:168105953-168105953 C>A	0.0	4258	ENDOMETRIAL	-	-	-	-	XIRP2	uc010fpq.3,p.T2462N|NM_152381,p.T2684N|ENST00000295237,p.T2684N|uc002udx.3,p.T2684N|ENST00000409273,p.T2462N|NM_001199144,p.T2462N|uc002udy.3,p.T2509N|ENST00000409195,p.T2684N	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.C7385A	p.T2462N	ACEIKQSHQECSTQQTQQKKYLEQL	ACEIKQSHQECSNQQTQQKKYLEQL	5.0	7.0	-	-	4258_2:168105953-168105953 C>A_ACEIKQSHQECSNQQTQQKKYLEQL
15:75557692-75557692 G>A	0.0	4258	ENDOMETRIAL	-	rs3985404	-	-	GOLGA6C	uc002azs.2,p.R229Q|ENST00000300576,p.R229Q|NM_001164404,p.R229Q	protein_coding	uc002azs.2	nonsynonymous SNV	exon9	c.G686A	p.R229Q	QVTESLKQVQLERDEYAKHIKGERA	QVTESLKQVQLEQDEYAKHIKGERA	1.0	5.0	unscreened	-	4258_15:75557692-75557692 G>A_QVTESLKQVQLEQDEYAKHIKGERA
10:21415013-21415013 C>A	0.0	4258	ENDOMETRIAL	-	-	-	-	C10orf113	uc001iqm.3,p.R69S|ENST00000377118,p.R59S|ENST00000534331,p.R69S|NM_001010896,p.R69S	protein_coding	uc001iqm.3	nonsynonymous SNV	exon2	c.G207T	p.R69S	PGKAERRAEKGLRPPRKLVGETRRL	PGKAERRAEKGLSPPRKLVGETRRL	1.0	4.0	-	-	4258_10:21415013-21415013 C>A_PGKAERRAEKGLSPPRKLVGETRRL
3:122632712-122632712 C>T	0.0	4258	ENDOMETRIAL	-	-	ID=COSM1536202,COSM1536203;OCCURENCE=1(lung)	-	SEMA5B	uc031sbm.1,p.E763K|ENST00000195173,p.E709K|NM_001256348,p.E651K|ENST00000393583,p.E709K|NM_001031702,p.E709K|uc010hro.2,p.E651K|ENST00000357599,p.E709K|uc011bju.2,p.E651K|ENST00000451055,p.E763K|uc003egb.2,p.E709K|NM_001256347,p.E763K|uc003efz.2,p.E709K|NM_001256346,p.E709K|ENST00000475244,p.E709K	protein_coding, processed_transcript, nonsense_mediated_decay	uc031sbm.1	nonsynonymous SNV	exon15	c.G2287A	p.E763K	RHGGRICVGKSREERFCNENTPCPV	RHGGRICVGKSRKERFCNENTPCPV	5.0	7.0	-	-	4258_3:122632712-122632712 C>T_RHGGRICVGKSRKERFCNENTPCPV
X:7811957-7811957 T>A	0.0	4258	ENDOMETRIAL	-	-	-	-	VCX	ENST00000381059,p.L174Q|NM_013452,p.L174Q|ENST00000341408,p.L154Q|uc004crz.3,p.L174Q	protein_coding	uc004crz.3	nonsynonymous SNV	exon3	c.T521A	p.L174Q	EPLSQESQVEEPLSQESEMEEPLSQ	EPLSQESQVEEPQSQESEMEEPLSQ	1.0	6.0	unscreened	-	4258_X:7811957-7811957 T>A_EPLSQESQVEEPQSQESEMEEPLSQ
12:53069195-53069195 C>T	0.0	4258	ENDOMETRIAL	-	-	-	-	KRT1	uc001sau.1,p.G573S|NM_006121,p.G573S|uc001sav.1,p.G566S|ENST00000252244,p.G573S	retained_intron, protein_coding	uc001sav.1	nonsynonymous SNV	exon10	c.G1696A	p.G566S	SGGGSYGSGGGGGGHGSYGSGSSSG	SGGGSYGSGGGGSGHGSYGSGSSSG	2.0	6.0	unscreened	-	4258_12:53069195-53069195 C>T_SGGGSYGSGGGGSGHGSYGSGSSSG
X:140993492-140993492 G>C	0.0	4258	ENDOMETRIAL	-	-	-	-	MAGEC1	uc004fbt.3,p.S101T|ENST00000285879,p.S101T|NM_005462,p.S101T	protein_coding	uc004fbt.3	nonsynonymous SNV	exon4	c.G302C	p.S101T	GDDTQSPLQNSQSSPEGKDSLSPLE	GDDTQSPLQNSQTSPEGKDSLSPLE	5.0	4.0	-	-	4258_X:140993492-140993492 G>C_GDDTQSPLQNSQTSPEGKDSLSPLE
8:54896990-54896990 G>-	0.0	4258	ENDOMETRIAL	-	-	-	1	TCEA1	uc003xru.3,p.P204fs|NM_201437,p.P183fs|ENST00000396401,p.P183fs|ENST00000521604,p.P204fs|NM_006756,p.P204fs|uc003xrv.3,p.P183fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc003xrv.3	frameshift deletion	exon6	c.548delC	p.P183fs	RSRISNLKDAKNPNLRKNVLCGNIP	RSRISNLKDAKNQI	8.0	7.0	-	-	4258_8:54896990-54896990 G>-_RSRISNLKDAKNQI
6:73017026-73017026 A>G	0.0	4258	ENDOMETRIAL	-	-	-	-	RIMS1	uc003pgf.3,p.T315A|ENST00000370420,p.T354A|uc011dye.2,p.T112A|ENST00000538414,p.T112A|ENST00000517960,p.T1098A|ENST00000264839,p.T1155A|uc010kaq.3,p.T626A|ENST00000453976,p.T471A|uc003pgd.3,p.T372A|uc003pge.3,p.T346A|uc003pgc.3,p.T755A|ENST00000491071,p.T1129A|uc011dyb.2,p.T703A|uc003pga.4,p.T1306A|ENST00000521978,p.T1306A|ENST00000348717,p.T1098A|ENST00000401910,p.T626A|NM_014989,p.T1306A|NM_001168407,p.T626A	retained_intron, protein_coding, processed_transcript	uc011dye.2	nonsynonymous SNV	exon8	c.A334G	p.T112A	QMKMKVHRFKQTTGSGSSQELDREQ	QMKMKVHRFKQTAGSGSSQELDREQ	1.0	5.0	-	-	4258_6:73017026-73017026 A>G_QMKMKVHRFKQTAGSGSSQELDREQ
20:43836773-43836773 C>A	0.0	4258	ENDOMETRIAL	-	-	-	-	SEMG1	ENST00000372781,p.H279N|uc002xni.2,p.H279N|uc002xnj.2,p.H279N|ENST00000244069,p.H279N|NM_003007,p.H279N	protein_coding	uc002xnj.2	nonsynonymous SNV	exon2	c.C835A	p.H279N	QHQTKNLNQDQQHGRKANKISYQSS	QHQTKNLNQDQQNGRKANKISYQSS	1.0	5.0	-	-	4258_20:43836773-43836773 C>A_QHQTKNLNQDQQNGRKANKISYQSS
17:7578190-7578190 T>C	1.0	4259	COLON	-	-	ID=COSM99718,COSM3355993,COSM99719,COSM1644277,COSM99720,COSM10758;OCCURENCE=18(oesophagus),1(bone),27(upper_aerodigestive_tract),20(central_nervous_system),12(stomach),12(haematopoietic_and_lymphoid_tissue),1(peritoneum),27(lung),4(endometrium),44(ovary),7(soft_tissue),17(large_intestine),1(biliary_tract),1(prostate),8(liver),5(pancreas),16(urinary_tract),3(small_intestine),33(breast),1(skin)	1	TP53	uc010vug.3,p.Y181C	retained_intron, protein_coding, processed_transcript	uc010vug.3	nonsynonymous SNV	exon5	c.A542G	p.Y181C	DRNTFRHSVVVPYEPPEVWFATGVS	DRNTFRHSVVVPCEPPEVWFATGVS	9.0	10.0	unscreened	-	4259_17:7578190-7578190 T>C_DRNTFRHSVVVPCEPPEVWFATGVS
17:7578190-7578190 T>C	1.0	4259	COLON	-	-	ID=COSM99718,COSM3355993,COSM99719,COSM1644277,COSM99720,COSM10758;OCCURENCE=18(oesophagus),1(bone),27(upper_aerodigestive_tract),20(central_nervous_system),12(stomach),12(haematopoietic_and_lymphoid_tissue),1(peritoneum),27(lung),4(endometrium),44(ovary),7(soft_tissue),17(large_intestine),1(biliary_tract),1(prostate),8(liver),5(pancreas),16(urinary_tract),3(small_intestine),33(breast),1(skin)	1	TP53	NM_001126114,p.Y220C|NM_001276695,p.Y181C|ENST00000413465,p.Y220C|uc010cnf.2,p.Y61C|NM_001276699,p.Y61C|NM_001126112,p.Y220C|NM_001276760,p.Y181C|ENST00000359597,p.Y220C|NM_001126116,p.Y88C|ENST00000514944,p.Y127C|ENST00000269305,p.Y220C|uc002gii.2,p.Y61C|ENST00000509690,p.Y88C|NM_001276698,p.Y61C|uc002gih.3,p.Y220C|NM_001276696,p.Y181C|ENST00000455263,p.Y220C|NM_001126115,p.Y88C|ENST00000420246,p.Y220C|uc002gij.3,p.Y181C|uc031qyq.1,p.Y181C|NM_001126117,p.Y88C|uc010cng.2,p.Y61C|uc002gin.3,p.Y127C|ENST00000445888,p.Y220C|uc002gig.1,p.Y220C|uc002gio.3,p.Y88C|NM_000546,p.Y220C|NM_001126118,p.Y181C|NM_001276761,p.Y181C|NM_001276697,p.Y61C|NM_001126113,p.Y220C	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon5	c.A542G	p.Y181C	DRNTFRHSVVVPYEPPEVGSDCTTI	DRNTFRHSVVVPCEPPEVGSDCTTI	9.0	10.0	CD8	-	4259_17:7578190-7578190 T>C_DRNTFRHSVVVPCEPPEVGSDCTTI
5:140057599-140057599 T>A	1.0	4259	COLON	-	-	-	-	HARS	ENST00000415192,p.D101V|uc011czo.3,p.D101V|NM_001289092,p.D101V	retained_intron, protein_coding, nonsense_mediated_decay	uc011czo.3	nonsynonymous SNV	exon4	c.A302T	p.D101V	AEVIDTPVFELKDFDIAGNFDPMIP	AEVIDTPVFELKVFDIAGNFDPMIP	10.0	6.0	-	-	4259_5:140057599-140057599 T>A_AEVIDTPVFELKVFDIAGNFDPMIP
7:148504791-148504791 G>C	1.0	4259	COLON	-	-	-	1	EZH2	ENST00000460911,p.Q730E|ENST00000320356,p.Q735E|uc011kug.2,p.Q679E|uc011kuh.2,p.Q721E|uc003wfb.2,p.Q735E|NM_152998,p.Q691E|ENST00000483967,p.Q721E|ENST00000350995,p.Q691E|uc003wfd.2,p.Q730E|NM_001203248,p.Q721E|NM_001203249,p.Q679E|NM_004456,p.Q735E|uc003wfc.2,p.Q691E|ENST00000541220,p.Q679E|uc022aov.1,p.Q649E|ENST00000476773,p.Q679E|NM_001203247,p.Q730E|ENST00000478654,p.Q679E	retained_intron, protein_coding, nonsense_mediated_decay	uc022aov.1	nonsynonymous SNV	exon17	c.C1945G	p.Q649E	TGEELFFDYRYSQADALKYVGIERE	TGEELFFDYRYSEADALKYVGIERE	9.0	9.0	-	-	4259_7:148504791-148504791 G>C_TGEELFFDYRYSEADALKYVGIERE
5:140057599-140057599 T>A	1.0	4259	COLON	-	-	-	-	HARS	ENST00000431330,p.D61V|uc011czp.3,p.D61V|NM_001289093,p.D61V	retained_intron, protein_coding, nonsense_mediated_decay	uc011czp.3	nonsynonymous SNV	exon3	c.A182T	p.D61V	ESKQKFVLKTPKDFDIAGNFDPMIP	ESKQKFVLKTPKVFDIAGNFDPMIP	10.0	6.0	-	-	4259_5:140057599-140057599 T>A_ESKQKFVLKTPKVFDIAGNFDPMIP
2:219611745-219611745 C>T	1.0	4259	COLON	-	-	-	-	TTLL4	uc010zkl.1,p.S500L|ENST00000392102,p.S665L|ENST00000258398,p.S665L|NM_014640,p.S665L|ENST00000457313,p.S500L|uc002viy.3,p.S665L	retained_intron, protein_coding, nonsense_mediated_decay	uc010zkl.1	nonsynonymous SNV	exon8	c.C1499T	p.S500L	IREHQKLNHFPGSFQIGRKDRLWRN	IREHQKLNHFPGLFQIGRKDRLWRN	9.0	10.0	-	-	4259_2:219611745-219611745 C>T_IREHQKLNHFPGLFQIGRKDRLWRN
1:117487502-117487502 C>T	1.0	4259	COLON	-	-	-	-	PTGFRN	NM_020440,p.P207L|ENST00000393203,p.P207L|uc001egv.1,p.P207L	protein_coding, processed_transcript	uc001egv.1	nonsynonymous SNV	exon3	c.C620T	p.P207L	SVLALTHEGRFHPGLGYEQRYHSGD	SVLALTHEGRFHLGLGYEQRYHSGD	10.0	8.0	-	-	4259_1:117487502-117487502 C>T_SVLALTHEGRFHLGLGYEQRYHSGD
5:140057599-140057599 T>A	1.0	4259	COLON	-	-	-	-	HARS	ENST00000307633,p.D115V|uc003lgw.4,p.D155V|ENST00000457527,p.D155V|uc011czn.3,p.D115V|NM_001258041,p.D155V|NM_001258042,p.D115V	retained_intron, protein_coding, nonsense_mediated_decay	uc011czn.3	nonsynonymous SNV	exon5	c.A344T	p.D115V	KLTNIKRYHIAKDFDIAGNFDPMIP	KLTNIKRYHIAKVFDIAGNFDPMIP	10.0	6.0	-	-	4259_5:140057599-140057599 T>A_KLTNIKRYHIAKVFDIAGNFDPMIP
X:17745815-17745815 G>C	1.0	4259	COLON	-	-	-	-	NHS	NM_001136024,p.D1020H|uc004cxx.3,p.D1176H|uc004cxy.3,p.D1020H|ENST00000398097,p.D1020H|uc004cya.3,p.D899H|NM_001291868,p.D999H|ENST00000380060,p.D1176H|NM_198270,p.D1176H|uc011mix.2,p.D1197H|NM_001291867,p.D1197H|uc004cxz.3,p.D999H	protein_coding, processed_transcript	uc011mix.2	nonsynonymous SNV	exon7	c.G3589C	p.D1197H	ANKSVSRQYSTEDTILSFLDSSAVE	ANKSVSRQYSTEHTILSFLDSSAVE	7.0	4.0	-	-	4259_X:17745815-17745815 G>C_ANKSVSRQYSTEHTILSFLDSSAVE
11:60702114-60702114 G>A	1.0	4259	COLON	-	-	-	-	TMEM132A	ENST00000453848,p.D572N|uc001nqj.3,p.D572N|ENST00000005286,p.D573N|uc001nqi.3,p.D573N|NM_178031,p.D572N|NM_017870,p.D573N	retained_intron, protein_coding, processed_transcript	uc001nqj.3	nonsynonymous SNV	exon9	c.G1714A	p.D572N	DGGRRLTHLLGPDWLLDVSHLVAPH	DGGRRLTHLLGPNWLLDVSHLVAPH	8.0	7.0	-	-	4259_11:60702114-60702114 G>A_DGGRRLTHLLGPNWLLDVSHLVAPH
8:73982175-73982175 C>T	1.0	4259	COLON	-	-	-	-	SBSPON	ENST00000297354,p.C181Y|uc003xzf.3,p.C181Y|NM_153225,p.C181Y	protein_coding, processed_transcript	uc003xzf.3	nonsynonymous SNV	exon4	c.G542A	p.C181Y	CMEFKTESLTPHCALENWPLTRWMQ	CMEFKTESLTPHYALENWPLTRWMQ	7.0	4.0	unscreened	-	4259_8:73982175-73982175 C>T_CMEFKTESLTPHYALENWPLTRWMQ
1:55572915-55572915 G>A	1.0	4259	COLON	-	-	ID=COSM3386251,COSM3386250;OCCURENCE=1(pancreas)	-	USP24	uc001cyg.4,p.L1421F|ENST00000294383,p.L1587F|ENST00000407756,p.L1427F|NM_015306,p.L1587F|uc021onw.1,p.L1587F	retained_intron, protein_coding, processed_transcript	uc021onw.1	nonsynonymous SNV	exon40	c.C4759T	p.L1587F	TLLSLCGAEKEMLGSSLIKPLLDDF	TLLSLCGAEKEMFGSSLIKPLLDDF	8.0	9.0	-	-	4259_1:55572915-55572915 G>A_TLLSLCGAEKEMFGSSLIKPLLDDF
17:3651273-3651273 C>T	0.0	4259	COLON	-	-	ID=COSM2154321;OCCURENCE=2(central_nervous_system)	-	ITGAE	ENST00000263087,p.V700I|uc002fwo.4,p.V700I|NM_002208,p.V700I	retained_intron, protein_coding, processed_transcript	uc002fwo.4	nonsynonymous SNV	exon17	c.G2098A	p.V700I	FTPSALPIGFNGVVNVRLCFEISSV	FTPSALPIGFNGIVNVRLCFEISSV	9.0	5.0	-	-	4259_17:3651273-3651273 C>T_FTPSALPIGFNGIVNVRLCFEISSV
11:43380519-43380519 ->G	0.0	4259	COLON	-	-	-	-	TTC17	uc001mxh.3,p.V5fs|uc001mxi.3,p.V5fs|ENST00000039989,p.V5fs|ENST00000299240,p.V5fs|NM_018259,p.V5fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001mxi.3	frameshift insertion	exon1	c.16dupG	p.V5fs	MAAAVGVRGRYELPPCS	MAAAVGGSWPVRAAALLRPRLAPQPFRLAECGGTRGLRHHALGRHGGRENPAAGGFTNELEASS	9.0	5.0	-	-	4259_11:43380519-43380519 ->G_MAAAVGGSWPVRAAALLRPRLAPQPFRLAECGGTRGLRHHALGRHGGRENPAAGGFTNELEASS
11:43380519-43380519 ->G	0.0	4259	COLON	-	-	-	-	TTC17	ENST00000534347,p.V5fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000534347	frameshift insertion	exon1	c.16dupG	p.V5fs	MAAAVGVRGRYELPPCS	MAAAVGGSWPVRAAALLRPRLAPQPFRLAECGGTRGLRHHALGRHGGRENPAAVI	9.0	5.0	unscreened	-	4259_11:43380519-43380519 ->G_MAAAVGGSWPVRAAALLRPRLAPQPFRLAECGGTRGLRHHALGRHGGRENPAAVI
9:78790134-78790138 AATGA>-	0.0	4259	COLON	-	-	-	-	PCSK5	ENST00000376767,p.G663fs|uc004ajy.2,p.G663fs	protein_coding	uc004ajy.2	frameshift deletion	exon14	c.1989_1993del	p.G663fs	HPTTWENRMEWNGMKWNGMKWNGME	HPTTWENRMEWNGMEWNEMEWNGMEWNGMESNRIESNRI	6.0	5.0	unscreened	-	4259_9:78790134-78790138 AATGA>-_HPTTWENRMEWNGMEWNEMEWNGMEWNGMESNRIESNRI
9:140142136-140142136 G>A	1.0	4259	COLON	-	-	-	-	FAM166A	ENST00000388932,p.T11M|ENST00000471784,p.T11M|NM_001001710,p.T11M|uc004cmi.1,p.T11M|ENST00000484720,p.T11M|ENST00000344774,p.T11M	protein_coding, nonsense_mediated_decay	uc004cmi.1	nonsynonymous SNV	exon1	c.C32T	p.T11M	MTTTQKHDLFTPEPHYVPGYAGF	MTTTQKHDLFMPEPHYVPGYAGF	6.0	10.0	-	-	4259_9:140142136-140142136 G>A_MTTTQKHDLFMPEPHYVPGYAGF
5:140057599-140057599 T>A	1.0	4259	COLON	-	-	-	-	HARS	uc003lgv.4,p.D175V|NM_001289094,p.D146V|NM_001258040,p.D135V|uc011czm.3,p.D135V|ENST00000438307,p.D135V|NM_002109,p.D175V|ENST00000448240,p.D13V|ENST00000504366,p.D106V|ENST00000504156,p.D175V|uc003lgu.3,p.D106V	retained_intron, protein_coding, nonsense_mediated_decay	uc011czm.3	nonsynonymous SNV	exon5	c.A404T	p.D135V	MTRGRYREFYQCDFDIAGNFDPMIP	MTRGRYREFYQCVFDIAGNFDPMIP	10.0	6.0	-	-	4259_5:140057599-140057599 T>A_MTRGRYREFYQCVFDIAGNFDPMIP
1:220091617-220091617 C>A	1.0	4259	COLON	-	-	-	-	SLC30A10	ENST00000366926,p.G313V|uc001hlv.3,p.G68V|NM_018713,p.G313V|ENST00000536446,p.G68V|uc001hlw.3,p.G313V	protein_coding, processed_transcript, nonsense_mediated_decay	uc001hlw.3	nonsynonymous SNV	exon3	c.G938T	p.G313V	ETAAILLQMVPKGVNMEELMSKLSA	ETAAILLQMVPKVVNMEELMSKLSA	6.0	8.0	-	-	4259_1:220091617-220091617 C>A_ETAAILLQMVPKVVNMEELMSKLSA
15:75230309-75230309 C>A	1.0	4259	COLON	-	-	-	-	COX5A	ENST00000568783,p.R16L|uc002azi.4,p.R16L|ENST00000322347,p.R16L|ENST00000564811,p.R16L|ENST00000567270,p.R16L|ENST00000562233,p.R16L|NM_004255,p.R16L	protein_coding	uc002azi.4	nonsynonymous SNV	exon1	c.G47T	p.R16L	AALRRCAVAATTRADPRGLLHSART	AALRRCAVAATTLADPRGLLHSART	10.0	10.0	-	-	4259_15:75230309-75230309 C>A_AALRRCAVAATTLADPRGLLHSART
3:122829823-122829823 G>T	0.0	4259	COLON	-	-	-	-	PDIA5	ENST00000316218,p.K171N|uc003egc.2,p.K171N|ENST00000489923,p.K171N|NM_006810,p.K171N	protein_coding, processed_transcript, nonsense_mediated_decay	uc003egc.2	nonsynonymous SNV	exon7	c.G513T	p.K171N	EKDFRRLLKKEEKPLLIMFYAPWCS	EKDFRRLLKKEENPLLIMFYAPWCS	9.0	2.0	-	-	4259_3:122829823-122829823 G>T_EKDFRRLLKKEENPLLIMFYAPWCS
19:17450305-17450305 C>A	1.0	4259	COLON	-	-	-	-	GTPBP3	uc002ngg.4,p.P323T|ENST00000361619,p.P313T|ENST00000358792,p.P323T|uc002ngh.4,p.P291T|ENST00000600625,p.P291T|NM_032620,p.P291T|NM_133644,p.P323T|uc010eas.3,p.P291T|NM_001195422,p.P313T|uc010xpo.2,p.P313T|NM_001128855,p.P291T|ENST00000324894,p.P291T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xpo.2	nonsynonymous SNV	exon7	c.C937A	p.P313T	PEPGTTRDVLETPVDLAGFPVLLSD	PEPGTTRDVLETTVDLAGFPVLLSD	7.0	8.0	-	-	4259_19:17450305-17450305 C>A_PEPGTTRDVLETTVDLAGFPVLLSD
3:36896768-36896768 C>T	1.0	4259	COLON	-	-	-	-	TRANK1	uc003cgj.3,p.R1438H|NM_014831,p.R1438H|ENST00000429976,p.R1438H|ENST00000301807,p.R888H|ENST00000428977,p.R888H	protein_coding, processed_transcript	uc003cgj.3	nonsynonymous SNV	exon12	c.G4313A	p.R1438H	IMKGVAFRFSDLRSLFHYASRNTID	IMKGVAFRFSDLHSLFHYASRNTID	7.0	2.0	-	-	4259_3:36896768-36896768 C>T_IMKGVAFRFSDLHSLFHYASRNTID
2:33783310-33783310 G>T	1.0	4259	COLON	-	-	-	-	RASGRP3	uc002roy.3,p.D537Y|ENST00000403687,p.D538Y|NM_001139488,p.D538Y|ENST00000407811,p.D537Y|ENST00000402538,p.D538Y|uc010ync.2,p.D538Y|NM_170672,p.D538Y|NM_015376,p.D537Y|uc002rox.3,p.D538Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ync.2	nonsynonymous SNV	exon16	c.G1612T	p.D538Y	KDCGANCHKQCKDLLVLACRRFARA	KDCGANCHKQCKYLLVLACRRFARA	6.0	10.0	-	-	4259_2:33783310-33783310 G>T_KDCGANCHKQCKYLLVLACRRFARA
3:169546620-169546620 C>T	0.0	4259	COLON	-	-	-	-	LRRIQ4	uc003fgb.3,p.P365L|NM_001080460,p.P365L|ENST00000340806,p.P365L	protein_coding	uc003fgb.3	nonsynonymous SNV	exon2	c.C1094T	p.P365L	ILGLTGNEFLSFPEEVLSLASLEKL	ILGLTGNEFLSFLEEVLSLASLEKL	5.0	4.0	-	-	4259_3:169546620-169546620 C>T_ILGLTGNEFLSFLEEVLSLASLEKL
X:3228955-3228955 G>A	0.0	4259	COLON	-	-	ID=COSM178643,COSM178644;OCCURENCE=1(large_intestine)	-	MXRA5	uc004crg.4,p.T2430M|ENST00000217939,p.T2430M|NM_015419,p.T2430M	protein_coding	uc004crg.4	nonsynonymous SNV	exon7	c.C7289T	p.T2430M	CLVRNSAGEDRKTVWIHVNVQPPKI	CLVRNSAGEDRKMVWIHVNVQPPKI	6.0	4.0	-	-	4259_X:3228955-3228955 G>A_CLVRNSAGEDRKMVWIHVNVQPPKI
5:66459235-66459235 G>A	1.0	4259	COLON	-	-	-	-	MAST4	uc003juw.3,p.A1149T|ENST00000403625,p.A1410T|NM_001290227,p.A1149T|NM_001290226,p.A1204T|ENST00000403666,p.A1221T|NM_001164664,p.A1410T|NM_001297651,p.A1216T|ENST00000404260,p.A1413T|ENST00000261569,p.A1216T|NM_015183,p.A1221T|uc003jut.2,p.A1221T|uc021xzk.1,p.A1410T|ENST00000405643,p.A1231T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xzk.1	nonsynonymous SNV	exon29	c.G4228A	p.A1410T	PLLGHSLGNSKIAQAFPSKMHSPPT	PLLGHSLGNSKITQAFPSKMHSPPT	7.0	6.0	-	-	4259_5:66459235-66459235 G>A_PLLGHSLGNSKITQAFPSKMHSPPT
22:29654838-29654838 G>A	1.0	4259	COLON	-	-	-	-	EMID1	uc021wnr.1,p.G112S|ENST00000404820,p.G415S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wnr.1	nonsynonymous SNV	exon7	c.G334A	p.G112S	PEPELGSGAGPAGTGTPSLLRGKRG	PEPELGSGAGPASTGTPSLLRGKRG	7.0	6.0	-	-	4259_22:29654838-29654838 G>A_PEPELGSGAGPASTGTPSLLRGKRG
22:29654838-29654838 G>A	1.0	4259	COLON	-	-	-	-	EMID1	uc003aen.4,p.G411S|ENST00000334018,p.G413S|ENST00000404755,p.G392S|NM_001267895,p.G411S|NM_133455,p.G413S|uc003aem.4,p.G413S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003aen.4	nonsynonymous SNV	exon15	c.G1231A	p.G411S	YEPELGSGAGPAGTGTPSLLRGKRG	YEPELGSGAGPASTGTPSLLRGKRG	7.0	6.0	-	-	4259_22:29654838-29654838 G>A_YEPELGSGAGPASTGTPSLLRGKRG
9:78790148-78790148 G>A	0.0	4259	COLON	-	-	-	-	PCSK5	ENST00000376767,p.G668E|uc004ajy.2,p.G668E	protein_coding	uc004ajy.2	nonsynonymous SNV	exon14	c.G2003A	p.G668E	ENRMEWNGMKWNGMKWNGMEWNGME	ENRMEWNGMKWNEMKWNGMEWNGME	6.0	5.0	unscreened	-	4259_9:78790148-78790148 G>A_ENRMEWNGMKWNEMKWNGMEWNGME
13:29041150-29041150 G>T	0.0	4259	COLON	-	-	-	-	FLT1	uc010aar.1,p.T93N|ENST00000282397,p.T93N|ENST00000541932,p.T93N|uc001usd.3,p.T93N|uc001usc.3,p.T93N|uc010tdp.1,p.T93N|NM_002019,p.T93N|uc001usb.3,p.T93N|NM_001159920,p.T93N|ENST00000539099,p.T93N|NM_001160030,p.T93N|NM_001160031,p.T93N	protein_coding	uc010tdp.1	nonsynonymous SNV	exon3	c.C278A	p.T93N	CGRNGKQFCSTLTLNTAQANHTGFY	CGRNGKQFCSTLNLNTAQANHTGFY	7.0	2.0	unscreened	-	4259_13:29041150-29041150 G>T_CGRNGKQFCSTLNLNTAQANHTGFY
15:44695200-44695200 G>T	1.0	4259	COLON	-	-	-	-	CASC4	ENST00000299957,p.E396D|uc001ztp.3,p.E396D|uc001zto.2,p.E396D|NM_138423,p.E396D	protein_coding, processed_transcript, nonsense_mediated_decay	uc001ztp.3	nonsynonymous SNV	exon9	c.G1188T	p.E396D	GNVGEYEADKQAELAYNEEEDGDGG	GNVGEYEADKQADLAYNEEEDGDGG	9.0	3.0	-	-	4259_15:44695200-44695200 G>T_GNVGEYEADKQADLAYNEEEDGDGG
11:55735108-55735108 G>T	0.0	4259	COLON	-	-	ID=COSM688746;OCCURENCE=1(lung)	-	OR10AG1	ENST00000312345,p.P278T|NM_001005491,p.P278T|uc010rit.2,p.P278T	protein_coding	uc010rit.2	nonsynonymous SNV	exon1	c.C832A	p.P278T	SLFYTILIPTLNPIIYTLRNKDIMV	SLFYTILIPTLNTIIYTLRNKDIMV	1.0	5.0	-	-	4259_11:55735108-55735108 G>T_SLFYTILIPTLNTIIYTLRNKDIMV
1:16259388-16259388 C>G	0.0	4259	COLON	-	-	-	1	SPEN	NM_015001,p.A2218G|uc010obp.1,p.A2177G|uc001axk.1,p.A2218G|ENST00000375759,p.A2218G	protein_coding, processed_transcript	uc010obp.1	nonsynonymous SNV	exon10	c.C6530G	p.A2177G	PAHQASETELAAAIGSIINDISGEP	PAHQASETELAAGIGSIINDISGEP	7.0	2.0	-	-	4259_1:16259388-16259388 C>G_PAHQASETELAAGIGSIINDISGEP
6:32549580-32549580 G>-	0.0	4259	COLON	-	-	ID=COSM1443628;OCCURENCE=2(large_intestine)	-	HLA-DRB1	NM_002124,p.Q136fs|uc003obp.4,p.Q136fs|ENST00000360004,p.Q136fs	protein_coding	uc003obp.4	frameshift deletion	exon3	c.406delC	p.Q136fs	VQPKVTVYPSKTQPLQHHNLLVCSV	VQPKVTVYPSKTSPCSTTTSWSAL	9.0	1.0	unscreened	-	4259_6:32549580-32549580 G>-_VQPKVTVYPSKTSPCSTTTSWSAL
18:25583025-25583025 T>C	0.0	4259	COLON	-	-	-	-	CDH2	NM_001792,p.N319S|ENST00000269141,p.N319S|uc002kwg.2,p.N319S|ENST00000399380,p.N288S|uc010xbn.1,p.N288S	protein_coding	uc010xbn.1	nonsynonymous SNV	exon6	c.A863G	p.N288S	RIVSQAPSTPSPNMFTINNETGDII	RIVSQAPSTPSPSMFTINNETGDII	6.0	10.0	-	-	4259_18:25583025-25583025 T>C_RIVSQAPSTPSPSMFTINNETGDII
5:13919340-13919340 G>A	1.0	4259	COLON	-	-	-	-	DNAH5	uc003jfd.2,p.P307L|NM_001369,p.P307L|ENST00000265104,p.P307L	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon7	c.C920T	p.P307L	SKFNYLLEQLKSPDVKAVLAVLAAA	SKFNYLLEQLKSLDVKAVLAVLAAA	4.0	3.0	-	-	4259_5:13919340-13919340 G>A_SKFNYLLEQLKSLDVKAVLAVLAAA
6:32548544-32548544 T>G	0.0	4259	COLON	-	rs199873800	-	-	HLA-DRB1	uc011dqc.1,p.I78L|NM_002124,p.I248L|uc003obp.4,p.I248L|ENST00000360004,p.I248L	protein_coding	uc011dqc.1	nonsynonymous SNV	exon3	c.A232C	p.I78L	VLGLLFLGAGLFIYFRNQKGHSGLQ	VLGLLFLGAGLFLYFRNQKGHSGLQ	9.0	3.0	unscreened	-	4259_6:32548544-32548544 T>G_VLGLLFLGAGLFLYFRNQKGHSGLQ
X:71877487-71877487 C>T	1.0	4259	COLON	-	-	-	-	PHKA1	NM_001172436,p.R290H|ENST00000541944,p.R290H|ENST00000373545,p.R290H|ENST00000373539,p.R290H|ENST00000373542,p.R290H|uc004eay.4,p.R290H|NM_002637,p.R290H|NM_001122670,p.R290H|uc004eax.4,p.R290H|ENST00000339490,p.R290H|uc011mqi.2,p.R290H	protein_coding	uc011mqi.2	nonsynonymous SNV	exon9	c.G869A	p.R290H	LTKQEIITKLQGRYGCCRFLRDGYK	LTKQEIITKLQGHYGCCRFLRDGYK	6.0	4.0	-	-	4259_X:71877487-71877487 C>T_LTKQEIITKLQGHYGCCRFLRDGYK
7:8272343-8272347 CTTAT>-	1.0	4259	COLON	-	-	-	-	ICA1	ENST00000265577,p.D18fs|ENST00000446305,p.D18fs|ENST00000430867,p.D18fs|NM_001276478,p.D18fs|uc003srr.4,p.D18fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003srr.4	frameshift deletion	exon3	c.53_57del	p.D18fs	CYPWDLQDRYAQDKSVVNKMQQKYW	CYPWDLQDRYAQVSCK	10.0	4.0	-	-	4259_7:8272343-8272347 CTTAT>-_CYPWDLQDRYAQVSCK
7:8272343-8272347 CTTAT>-	1.0	4259	COLON	-	-	-	-	ICA1	ENST00000396675,p.D19fs|ENST00000457755,p.D19fs|ENST00000407906,p.D19fs|uc010ktr.3,p.D19fs|uc003sro.5,p.D19fs|uc003srm.3,p.D19fs|uc003srs.2,p.D19fs|NM_022307,p.D19fs|ENST00000447326,p.D19fs|ENST00000402384,p.D19fs|ENST00000406470,p.D19fs|NM_004968,p.D19fs|ENST00000339809,p.D19fs|ENST00000455539,p.D19fs|NM_001136020,p.D19fs|uc003srq.4,p.D19fs|ENST00000422063,p.D19fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ktr.3	frameshift deletion	exon2	c.56_60del	p.D19fs	SYPWDLQDRYAQDKSVVNKMQQKYW	SYPWDLQDRYAQVSCK	10.0	4.0	-	-	4259_7:8272343-8272347 CTTAT>-_SYPWDLQDRYAQVSCK
18:12449710-12449710 G>A	1.0	4259	COLON	-	-	ID=COSM285325,COSM285324;OCCURENCE=1(large_intestine)	-	SPIRE1	ENST00000409402,p.T733M|ENST00000453447,p.T599M|uc010wzw.2,p.T599M|uc010wzx.2,p.T522M|NM_001128626,p.T733M|uc010wzy.2,p.T719M|NM_020148,p.T719M|NM_001128627,p.T599M|uc002kre.3,p.T733M|ENST00000309836,p.T522M|ENST00000410092,p.T719M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wzy.2	nonsynonymous SNV	exon16	c.C2156T	p.T719M	VLANKRARLKRKTQSFYMSSPGPSE	VLANKRARLKRKMQSFYMSSPGPSE	7.0	10.0	-	-	4259_18:12449710-12449710 G>A_VLANKRARLKRKMQSFYMSSPGPSE
X:54497148-54497148 G>-	1.0	4259	COLON	-	-	ID=COSM1468675;OCCURENCE=3(large_intestine)	-	FGD1	NM_004463,p.P176fs|uc004dtg.3,p.P176fs|ENST00000375135,p.P176fs	protein_coding	uc004dtg.3	frameshift deletion	exon3	c.527delC	p.P176fs	KPSYLQMPRMPPPLEPIPPPPSRPL	KPSYLQMPRMPPHWSPSPLHHHAHCLPTPEWPRAWLPGQRPAPVLQQYPH	4.0	5.0	-	-	4259_X:54497148-54497148 G>-_KPSYLQMPRMPPHWSPSPLHHHAHCLPTPEWPRAWLPGQRPAPVLQQYPH
7:55214300-55214309 AATCCTGCAT>-	0.0	4259	COLON	-	-	-	1	EGFR	uc022adm.1,p.E142fs|NM_201284,p.E142fs|NM_201283,p.E142fs|NM_201282,p.E142fs|ENST00000442591,p.E142fs|uc003tqi.3,p.E142fs|NM_005228,p.E142fs|ENST00000275493,p.E142fs|ENST00000450046,p.E89fs|ENST00000420316,p.E142fs|ENST00000342916,p.E142fs|uc003tqh.3,p.E142fs|uc003tqk.3,p.E142fs|uc011kco.2,p.E89fs|uc003tqj.3,p.E142fs|ENST00000344576,p.E142fs|ENST00000454757,p.E89fs	retained_intron, protein_coding, processed_transcript	uc022adm.1	frameshift deletion	exon4	c.426_435del	p.E142fs	TGLKELPMRNLQEILHGAVRFSNNP	TGLKELPMRNLQEAPCGSATTLPCATWRASSGGT	7.0	6.0	-	-	4259_7:55214300-55214309 AATCCTGCAT>-_TGLKELPMRNLQEAPCGSATTLPCATWRASSGGT
11:111731338-111731338 C>T	1.0	4259	COLON	-	-	-	-	ALG9	uc009yyh.1,p.G61E	-	uc009yyh.1	nonsynonymous SNV	exon4	c.G182A	p.G61E	FYKLIRAVCKKFGLHVSRMMLAFLV	FYKLIRAVCKKFELHVSRMMLAFLV	1.0	4.0	-	-	4259_11:111731338-111731338 C>T_FYKLIRAVCKKFELHVSRMMLAFLV
X:99956987-99956987 T>A	0.0	4259	COLON	-	-	-	-	SYTL4	uc010nnc.3,p.D16V|uc004egd.4,p.D16V|uc004egg.4,p.D16V|NM_001129896,p.D16V|uc004ege.4,p.D16V|uc004egf.4,p.D16V|ENST00000263033,p.D16V|ENST00000372989,p.D16V|ENST00000372981,p.D16V|ENST00000454200,p.D16V|NM_001174068,p.D16V|ENST00000276141,p.D16V|NM_080737,p.D16V|ENST00000455616,p.D16V	protein_coding, processed_transcript	uc010nnc.3	nonsynonymous SNV	exon2	c.A47T	p.D16V	LLDLSFLSEEEKDLILSVLQRDEEV	LLDLSFLSEEEKVLILSVLQRDEEV	7.0	2.0	unscreened	-	4259_X:99956987-99956987 T>A_LLDLSFLSEEEKVLILSVLQRDEEV
11:111731338-111731338 C>T	1.0	4259	COLON	-	-	-	-	ALG9	uc010rwn.2,p.G120E|NM_001077690,p.G166E|NM_024740,p.G166E	-	uc010rwn.2	nonsynonymous SNV	exon4	c.G359A	p.G120E	ELYFYKAVCKKFGLHVSRMMLAFLV	ELYFYKAVCKKFELHVSRMMLAFLV	1.0	4.0	-	-	4259_11:111731338-111731338 C>T_ELYFYKAVCKKFELHVSRMMLAFLV
16:88876532-88876532 C>T	1.0	4259	COLON	0.0005	-	-	-	APRT	ENST00000563655,p.A89T	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000563655	nonsynonymous SNV	exon3	c.G265A	p.A89T	RAPRAELEIQKDALEPGQRVVVVDD	RAPRAELEIQKDTLEPGQRVVVVDD	10.0	7.0	-	-	4259_16:88876532-88876532 C>T_RAPRAELEIQKDTLEPGQRVVVVDD
16:88876532-88876532 C>T	1.0	4259	COLON	0.0005	-	-	-	APRT	ENST00000426324,p.A116T|NM_001030018,p.A116T|uc002flw.3,p.A116T|uc002flv.3,p.A116T|ENST00000378364,p.A116T|NM_000485,p.A116T	retained_intron, protein_coding, nonsense_mediated_decay	uc002flw.3	nonsynonymous SNV	exon4	c.G346A	p.A116T	EYGKAELEIQKDALEPGQRVVVVDD	EYGKAELEIQKDTLEPGQRVVVVDD	10.0	7.0	-	-	4259_16:88876532-88876532 C>T_EYGKAELEIQKDTLEPGQRVVVVDD
1:82437593-82437593 C>A	0.0	4259	COLON	-	-	-	-	LPHN2	ENST00000370721,p.F925L|ENST00000370728,p.F1000L|uc009wcd.3,p.F987L|uc001div.3,p.F987L|ENST00000370715,p.F987L|ENST00000370717,p.F1000L|uc001diw.3,p.F571L|NM_012302,p.F987L|NM_001297705,p.F987L|ENST00000370713,p.F987L|ENST00000271029,p.F1000L|NM_001297706,p.F987L|uc001dit.4,p.F987L|ENST00000394879,p.F987L|uc001diu.3,p.F987L|ENST00000370723,p.F987L|ENST00000319517,p.F987L|uc009wce.1,p.F73L|ENST00000335786,p.F1000L|NM_001297704,p.F987L|ENST00000370730,p.F1000L|ENST00000370725,p.F1000L|ENST00000359929,p.F987L|ENST00000370727,p.F1000L	protein_coding, processed_transcript	uc009wce.1	nonsynonymous SNV	exon2	c.C219A	p.F73L	NYFIWSFIGPVTFIILLNIIFLVIT	NYFIWSFIGPVTLIILLNIIFLVIT	7.0	7.0	-	-	4259_1:82437593-82437593 C>A_NYFIWSFIGPVTLIILLNIIFLVIT
X:100910719-100910719 A>T	0.0	4259	COLON	-	-	-	-	ARMCX2	uc004eid.2,p.L619H|uc022caq.1,p.L619H|uc004eif.3,p.L619H|NM_001282231,p.L619H|uc004eie.3,p.L619H|uc010nnt.2,p.L619H|ENST00000356824,p.L619H|ENST00000330154,p.L619H|ENST00000328766,p.L619H|uc004eig.3,p.L619H|NM_177949,p.L619H|NM_014782,p.L619H	protein_coding, processed_transcript	uc022caq.1	nonsynonymous SNV	exon1	c.T1856A	p.L619H	VKKIRALANHHDLLVKVKVIKLVNK	VKKIRALANHHDHLVKVKVIKLVNK	6.0	3.0	-	-	4259_X:100910719-100910719 A>T_VKKIRALANHHDHLVKVKVIKLVNK
12:91502168-91502168 C>A	0.0	4259	COLON	-	-	-	-	LUM	uc001tbm.3,p.A197S|ENST00000266718,p.A197S|NM_002345,p.A197S	protein_coding, processed_transcript	uc001tbm.3	nonsynonymous SNV	exon2	c.G589T	p.A197S	SLEYLDLSFNQIARLPSGLPVSLLT	SLEYLDLSFNQISRLPSGLPVSLLT	10.0	5.0	-	-	4259_12:91502168-91502168 C>A_SLEYLDLSFNQISRLPSGLPVSLLT
19:40978679-40978679 C>T	0.0	4259	COLON	-	-	-	-	SPTBN4	ENST00000344104,p.R51W|uc002onz.3,p.R51W|ENST00000338932,p.R51W|NM_020971,p.R51W|ENST00000595535,p.R51W|uc002ony.3,p.R51W|ENST00000598249,p.R51W|uc002onx.3,p.R51W|ENST00000352632,p.R51W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002onz.3	nonsynonymous SNV	exon2	c.C151T	p.R51W	ASTAAASLFECSRIKALADEREAVQ	ASTAAASLFECSWIKALADEREAVQ	5.0	8.0	-	-	4259_19:40978679-40978679 C>T_ASTAAASLFECSWIKALADEREAVQ
2:190608058-190608058 C>T	0.0	4259	COLON	-	-	ID=COSM476663,COSM476664;OCCURENCE=1(kidney)	-	ANKAR	ENST00000313581,p.R1290C|uc002uqw.2,p.R1290C|NM_144708,p.R1290C|ENST00000431575,p.R1219C|ENST00000520309,p.R1290C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002uqw.2	nonsynonymous SNV	exon21	c.C3868T	p.R1290C	ALGYLTYNANAFRILLKECRNKPNQ	ALGYLTYNANAFCILLKECRNKPNQ	7.0	10.0	-	-	4259_2:190608058-190608058 C>T_ALGYLTYNANAFCILLKECRNKPNQ
6:87726049-87726049 G>A	0.0	4259	COLON	-	-	-	-	HTR1E	ENST00000305344,p.G333S|uc021zcg.1,p.G333S|uc003pli.3,p.G333S|ENST00000369584,p.G333S|NM_000865,p.G333S	protein_coding	uc021zcg.1	nonsynonymous SNV	exon1	c.G997A	p.G333S	VSSEVADFLTWLGYVNSLINPLLYT	VSSEVADFLTWLSYVNSLINPLLYT	1.0	8.0	-	-	4259_6:87726049-87726049 G>A_VSSEVADFLTWLSYVNSLINPLLYT
2:239988516-239988516 C>A	0.0	4259	COLON	-	-	-	-	HDAC4	uc010fyy.3,p.A921S|NM_006037,p.A964S|ENST00000345617,p.A964S|uc002vyk.4,p.A964S|ENST00000543185,p.A548S	retained_intron, protein_coding, processed_transcript	uc010fyy.3	nonsynonymous SNV	exon21	c.G2761T	p.A921S	CFGYLTKQLMGLAGGRIVLALEGGH	CFGYLTKQLMGLSGGRIVLALEGGH	7.0	4.0	-	-	4259_2:239988516-239988516 C>A_CFGYLTKQLMGLSGGRIVLALEGGH
6:37452967-37452967 C>T	1.0	4259	COLON	-	-	ID=COSM1444158;OCCURENCE=1(large_intestine)	-	CCDC167	ENST00000373408,p.D16N|uc003ont.3,p.D16N|NM_138493,p.D16N	protein_coding	uc003ont.3	nonsynonymous SNV	exon2	c.G46A	p.D16N	KKRENLGVALEIDGLEEKLSQCRRD	KKRENLGVALEINGLEEKLSQCRRD	10.0	10.0	-	-	4259_6:37452967-37452967 C>T_KKRENLGVALEINGLEEKLSQCRRD
15:79298652-79298652 G>A	0.0	4259	COLON	-	-	-	-	RASGRF1	NM_001145648,p.R651C|ENST00000558480,p.R651C|uc002ber.4,p.R651C|uc002bep.3,p.R651C|uc010unh.1,p.R59C|ENST00000419573,p.R664C|uc002beq.3,p.R664C|uc010blm.1,p.R573C|NM_002891,p.R664C	retained_intron, protein_coding, processed_transcript, TEC	uc010unh.1	nonsynonymous SNV	exon3	c.C175T	p.R59C	SVERLLERLTDLRFLSIDFLNTFLH	SVERLLERLTDLCFLSIDFLNTFLH	5.0	9.0	-	-	4259_15:79298652-79298652 G>A_SVERLLERLTDLCFLSIDFLNTFLH
13:24242922-24242922 A>C	0.0	4259	COLON	-	-	-	-	TNFRSF19	NM_018647,p.M311L|ENST00000403372,p.M179L|ENST00000248484,p.M311L|NM_148957,p.M311L|uc010tcu.2,p.M179L|uc001uot.3,p.M311L|NM_001204459,p.M179L|uc001uow.3,p.M311L|uc001uov.2,p.M311L|NM_001204458,p.M311L|ENST00000382258,p.M311L|ENST00000382263,p.M311L	protein_coding, processed_transcript	uc010tcu.2	nonsynonymous SNV	exon7	c.A535C	p.M179L	SICGEFSDAWPLMQNPMGGDNISFC	SICGEFSDAWPLLQNPMGGDNISFC	7.0	3.0	-	-	4259_13:24242922-24242922 A>C_SICGEFSDAWPLLQNPMGGDNISFC
1:60325938-60325938 G>T	0.0	4259	COLON	-	-	-	-	HOOK1	ENST00000395561,p.E448D|uc010oor.2,p.E448D|uc009wad.3,p.E490D|ENST00000371208,p.E490D|NM_015888,p.E490D|uc001czo.3,p.E490D	protein_coding, processed_transcript	uc010oor.2	nonsynonymous SNV	exon15	c.G1344T	p.E448D	RLQQEGSENERIEELQEQLEQKHRK	RLQQEGSENERIDELQEQLEQKHRK	8.0	3.0	unscreened	-	4259_1:60325938-60325938 G>T_RLQQEGSENERIDELQEQLEQKHRK
9:73218312-73218312 C>A	0.0	4259	COLON	-	-	-	-	TRPM3	uc004ahy.3,p.Q764H|uc004ahu.3,p.Q732H|ENST00000360823,p.Q764H|ENST00000396285,p.Q749H|uc004aic.3,p.Q902H|ENST00000377111,p.Q902H|NM_206946,p.Q774H|NM_024971,p.Q761H|ENST00000357533,p.Q906H|ENST00000377110,p.Q902H|NM_206944,p.Q739H|uc004aib.3,p.Q739H|ENST00000396292,p.Q774H|uc004aia.3,p.Q749H|ENST00000423814,p.Q929H|uc004ahz.3,p.Q751H|uc004ahw.3,p.Q774H|NM_001007471,p.Q902H|uc004ahv.3,p.Q704H|ENST00000377106,p.Q774H|NM_206947,p.Q764H|NM_020952,p.Q749H|uc004aid.3,p.Q902H|NM_206945,p.Q751H|ENST00000408909,p.Q761H|ENST00000358082,p.Q764H|ENST00000377105,p.Q761H|ENST00000396280,p.Q751H|uc004ahx.3,p.Q761H	retained_intron, protein_coding, processed_transcript	uc004aid.3	nonsynonymous SNV	exon19	c.G2706T	p.Q902H	IVLVKMERWPSTQEWIVISYIFTLG	IVLVKMERWPSTHEWIVISYIFTLG	3.0	2.0	unscreened	-	4259_9:73218312-73218312 C>A_IVLVKMERWPSTHEWIVISYIFTLG
16:89017620-89017620 C>G	0.0	4259	COLON	-	rs71395352	-	1	LOC100129697	NM_001290330,p.P365R|ENST00000378347,p.P365R	protein_coding	NM_001290330	nonsynonymous SNV	exon2	c.C1094G	p.P365R	SVGTCLPDLFTRPLDRHRHRGSECW	SVGTCLPDLFTRRLDRHRHRGSECW	1.0	1.0	unscreened	-	4259_16:89017620-89017620 C>G_SVGTCLPDLFTRRLDRHRHRGSECW
8:4277522-4277522 G>A	0.0	4259	COLON	-	-	ID=COSM3413033,COSM3413032;OCCURENCE=1(central_nervous_system)	-	CSMD1	ENST00000537824,p.T123M|NM_033225,p.T123M|ENST00000542608,p.T123M|uc022aqr.1,p.T123M|ENST00000602723,p.T123M|ENST00000539096,p.T123M|ENST00000602557,p.T123M|ENST00000520002,p.T123M|ENST00000400186,p.T123M	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon3	c.C368T	p.T123M	IVSTGSILTLWFTTDFAVSAQGFKA	IVSTGSILTLWFMTDFAVSAQGFKA	3.0	10.0	-	-	4259_8:4277522-4277522 G>A_IVSTGSILTLWFMTDFAVSAQGFKA
3:195512242-195512242 G>A	0.0	4259	COLON	-	rs75928106	-	2	MUC4	ENST00000463781,p.P2070L|NM_018406,p.P2070L|ENST00000477086,p.P2070L|ENST00000475231,p.P2070L|ENST00000480843,p.P2070L|ENST00000479406,p.P2070L|ENST00000478156,p.P2070L|ENST00000462323,p.P2070L|ENST00000470451,p.P2070L|uc021xjp.1,p.P2070L|ENST00000477756,p.P2070L|ENST00000466475,p.P2070L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C6209T	p.P2070L	STGDTTPLPVTNPSSASTGHATPLL	STGDTTPLPVTNLSSASTGHATPLL	5.0	1.0	unscreened	-	4259_3:195512242-195512242 G>A_STGDTTPLPVTNLSSASTGHATPLL
1:11585322-11585322 C>G	1.0	4259	COLON	-	-	-	-	PTCHD2	ENST00000294484,p.P856A|ENST00000389575,p.P856A|NM_020780,p.P856A|uc001asi.1,p.P856A|uc001ash.4,p.P856A	protein_coding, processed_transcript	uc001asi.1	nonsynonymous SNV	exon11	c.C2566G	p.P856A	VYRLSLNASLPAPWQAVSPGDGEVP	VYRLSLNASLPAAWQAVSPGDGEVP	3.0	9.0	-	-	4259_1:11585322-11585322 C>G_VYRLSLNASLPAAWQAVSPGDGEVP
3:195509957-195509957 A>G	0.0	4259	COLON	-	rs201699932	-	2	MUC4	uc021xjp.1,p.S2832P|NM_018406,p.S2832P|ENST00000466475,p.S2832P|ENST00000477086,p.S2832P|ENST00000470451,p.S2832P|ENST00000475231,p.S2832P|ENST00000463781,p.S2832P|ENST00000479406,p.S2832P|ENST00000462323,p.S2832P|ENST00000480843,p.S2832P|ENST00000478156,p.S2832P|ENST00000477756,p.S2832P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.T8494C	p.S2832P	TDASSVFTGHATSLPVTIPSSASSG	TDASSVFTGHATPLPVTIPSSASSG	5.0	2.0	unscreened	-	4259_3:195509957-195509957 A>G_TDASSVFTGHATPLPVTIPSSASSG
1:60325937-60325937 A>G	0.0	4259	COLON	-	-	-	-	HOOK1	uc010oor.2,p.E448G|ENST00000371208,p.E490G|uc001czo.3,p.E490G|NM_015888,p.E490G|ENST00000395561,p.E448G|uc009wad.3,p.E490G	protein_coding, processed_transcript	uc010oor.2	nonsynonymous SNV	exon15	c.A1343G	p.E448G	RLQQEGSENERIEELQEQLEQKHRK	RLQQEGSENERIGELQEQLEQKHRK	8.0	3.0	-	-	4259_1:60325937-60325937 A>G_RLQQEGSENERIGELQEQLEQKHRK
16:19547883-19547883 T>G	0.0	4259	COLON	-	-	-	-	CCP110	uc002dgk.4,p.S298A|NM_001199022,p.S298A|uc002dgl.4,p.S298A|ENST00000396208,p.S298A|NM_014711,p.S298A|ENST00000381396,p.S298A|ENST00000396212,p.S298A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dgl.4	nonsynonymous SNV	exon4	c.T892G	p.S298A	VSVIPDKPSLNKSNVLLQGASTQAS	VSVIPDKPSLNKANVLLQGASTQAS	7.0	2.0	unscreened	-	4259_16:19547883-19547883 T>G_VSVIPDKPSLNKANVLLQGASTQAS
6:133032873-133032873 A>G	0.0	4259	COLON	-	-	-	-	VNN1	NM_004666,p.W106R|ENST00000367928,p.W106R|uc003qdo.3,p.W106R	protein_coding	uc003qdo.3	nonsynonymous SNV	exon2	c.T316C	p.W106R	PYLEDIPDPEVNWIPCNNRNRFGQT	PYLEDIPDPEVNRIPCNNRNRFGQT	8.0	9.0	-	-	4259_6:133032873-133032873 A>G_PYLEDIPDPEVNRIPCNNRNRFGQT
7:117175402-117175402 T>G	0.0	4259	COLON	-	-	-	-	CFTR	uc003vjd.3,p.L227R|NM_000492,p.L227R|ENST00000426809,p.L197R|ENST00000003084,p.L227R|ENST00000454343,p.L227R	protein_coding, processed_transcript, nonsense_mediated_decay	uc003vjd.3	nonsynonymous SNV	exon6	c.T680G	p.L227R	IWELLQASAFCGLGFLIVLALFQAG	IWELLQASAFCGRGFLIVLALFQAG	9.0	6.0	-	-	4259_7:117175402-117175402 T>G_IWELLQASAFCGRGFLIVLALFQAG
1:248512906-248512906 C>A	0.0	4259	COLON	-	-	-	-	OR14C36	ENST00000317861,p.S277Y|NM_001001918,p.S277Y|uc010pzl.2,p.S277Y	protein_coding	uc010pzl.2	nonsynonymous SNV	exon1	c.C830A	p.S277Y	AATQDLILSGFYSIMPPLFNPIIYS	AATQDLILSGFYYIMPPLFNPIIYS	1.0	8.0	-	-	4259_1:248512906-248512906 C>A_AATQDLILSGFYYIMPPLFNPIIYS
1:248224768-248224768 G>T	0.0	4259	COLON	-	-	-	-	OR2L3	NM_001004687,p.R262I|ENST00000359959,p.R262I|uc001idx.1,p.R262I	protein_coding	uc001idx.1	nonsynonymous SNV	exon1	c.G785T	p.R262I	YYAPFVYTYLRPRSLRSPTEDKVLA	YYAPFVYTYLRPISLRSPTEDKVLA	1.0	8.0	-	-	4259_1:248224768-248224768 G>T_YYAPFVYTYLRPISLRSPTEDKVLA
1:84414359-84414359 C>A	0.0	4259	COLON	-	-	-	-	TTLL7	ENST00000260505,p.G100V|NM_024686,p.G100V|uc001djc.3,p.G100V|ENST00000480174,p.G100V	protein_coding, processed_transcript, nonsense_mediated_decay	uc001djc.3	nonsynonymous SNV	exon5	c.G299T	p.G100V	ELQNYQRINHFPGMGEICRKDFLAR	ELQNYQRINHFPVMGEICRKDFLAR	6.0	8.0	-	-	4259_1:84414359-84414359 C>A_ELQNYQRINHFPVMGEICRKDFLAR
11:66191115-66191115 C>A	0.0	4259	COLON	-	-	-	-	NPAS4	uc001ohx.1,p.A292E|ENST00000311034,p.A292E|uc010rpc.1,p.A82E|NM_178864,p.A292E	retained_intron, protein_coding, nonsense_mediated_decay	uc010rpc.1	nonsynonymous SNV	exon5	c.C245A	p.A82E	MVVRLQAKTGGWAWIYCLLYSEGPE	MVVRLQAKTGGWEWIYCLLYSEGPE	2.0	5.0	-	-	4259_11:66191115-66191115 C>A_MVVRLQAKTGGWEWIYCLLYSEGPE
2:68882257-68882257 C>A	0.0	4259	COLON	-	-	-	-	PROKR1	ENST00000394342,p.P244H|ENST00000303786,p.P244H|NM_138964,p.P244H|uc010yqj.2,p.P244H	protein_coding	uc010yqj.2	nonsynonymous SNV	exon2	c.C731A	p.P244H	YFLFIFGIEFVGPVVTMTLCYARIS	YFLFIFGIEFVGHVVTMTLCYARIS	1.0	7.0	unscreened	-	4259_2:68882257-68882257 C>A_YFLFIFGIEFVGHVVTMTLCYARIS
14:74706544-74706544 C>A	0.0	4259	COLON	-	-	-	-	VSX2	ENST00000261980,p.L94M|NM_182894,p.L94M|uc001xpq.3,p.L94M	protein_coding	uc001xpq.3	nonsynonymous SNV	exon1	c.C280A	p.L94M	GGLPGFYTQPTFLEVLSDPQSVHLQ	GGLPGFYTQPTFMEVLSDPQSVHLQ	1.0	6.0	unscreened	-	4259_14:74706544-74706544 C>A_GGLPGFYTQPTFMEVLSDPQSVHLQ
11:94592771-94592771 C>T	0.0	4259	COLON	-	-	-	-	AMOTL1	uc001pfb.3,p.R676W|ENST00000317829,p.R626W|NM_130847,p.R676W|uc001pfc.3,p.R626W|ENST00000433060,p.R676W|NM_001301007,p.R626W	retained_intron, protein_coding, processed_transcript	uc001pfc.3	nonsynonymous SNV	exon8	c.C1876T	p.R626W	PALLELVREKEERILALEADMTKWE	PALLELVREKEEWILALEADMTKWE	6.0	7.0	-	-	4259_11:94592771-94592771 C>T_PALLELVREKEEWILALEADMTKWE
5:31545798-31545798 G>A	0.0	4259	COLON	-	-	-	-	C5orf22	uc010iuj.3,p.M15I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010iuj.3	nonsynonymous SNV	exon1	c.G45A	p.M15I	SLVPLVQSLKKRMEVPDYEMFPASS	SLVPLVQSLKKRIEVPDYEMFPASS	9.0	3.0	-	-	4259_5:31545798-31545798 G>A_SLVPLVQSLKKRIEVPDYEMFPASS
4:25032262-25032264 CAG>-	0.0	4259	COLON	-	-	-	-	LGI2	NM_018176,p.18_18del|uc003grf.2,p.18_18del|ENST00000382114,p.18_18del	protein_coding	uc003grf.2	nonframeshift deletion	exon1	c.52_54del	p.18_18del	GGCGALGLLLLLLGAACLIPRSAQV	GGCGALGLLLLLGAACLIPRSAQVR	4.0	1.0	unscreened	-	4259_4:25032262-25032264 CAG>-_GGCGALGLLLLLGAACLIPRSAQVR
18:61323094-61323094 C>T	0.0	4259	COLON	-	-	ID=COSM3692170;OCCURENCE=1(large_intestine)	-	SERPINB3	ENST00000283752,p.V324M|ENST00000332821,p.V272M|uc010dqa.3,p.V272M|NM_006919,p.V324M|uc002lji.3,p.V324M	protein_coding	uc010dqa.3	nonsynonymous SNV	exon7	c.G814A	p.V272M	ADLSGMTGSRGLVLSGVLHKAFVEV	ADLSGMTGSRGLMLSGVLHKAFVEV	1.0	9.0	-	-	4259_18:61323094-61323094 C>T_ADLSGMTGSRGLMLSGVLHKAFVEV
18:45566340-45566340 G>A	1.0	4259	COLON	-	-	-	-	ZBTB7C	uc010dny.1,p.P380L|uc010doq.1,p.P389L|uc010doe.1,p.P380L|uc010dof.1,p.P380L|uc010dog.1,p.P380L|ENST00000588982,p.P380L|ENST00000586438,p.P380L|uc010dok.1,p.P429L|uc002ldb.3,p.P380L|uc010doo.1,p.P380L|NM_001039360,p.P380L|uc010don.1,p.P388L|uc010dnv.3,p.P402L|uc010dnx.1,p.P380L|uc010dos.1,p.P380L|uc010dod.1,p.P402L|uc010dor.1,p.P402L|uc010doj.1,p.P389L|ENST00000590800,p.P380L|uc010dop.1,p.P380L|uc010dot.1,p.P380L|uc010dnu.3,p.P389L|uc010dnw.3,p.P380L|uc010doi.1,p.P380L|ENST00000332053,p.P380L|uc010dom.1,p.P389L|uc010dol.1,p.P389L|ENST00000535628,p.P380L|uc010doh.1,p.P389L|uc010dou.1,p.P389L|uc010doc.1,p.P389L|uc010doa.1,p.P402L|uc010dob.1,p.P380L|uc010dnz.1,p.P402L	protein_coding	uc010dou.1	nonsynonymous SNV	exon6	c.C1166T	p.P389L	ICHKVIMGAGKLPRHMRTHTGEKPY	ICHKVIMGAGKLLRHMRTHTGEKPY	6.0	10.0	-	-	4259_18:45566340-45566340 G>A_ICHKVIMGAGKLLRHMRTHTGEKPY
11:32697480-32697480 C>T	0.0	4259	COLON	-	-	-	-	CCDC73	uc001mtv.4,p.G173S|NM_001008391,p.G173S|ENST00000335185,p.G173S|uc001mtw.2,p.G173S	protein_coding, processed_transcript	uc001mtw.2	nonsynonymous SNV	exon8	c.G517A	p.G173S	LSEIEKYYATITGQFGLVKENHEKL	LSEIEKYYATITSQFGLVKENHEKL	5.0	3.0	-	-	4259_11:32697480-32697480 C>T_LSEIEKYYATITSQFGLVKENHEKL
3:147113979-147113979 G>C	0.0	4259	COLON	-	-	-	-	ZIC4	ENST00000525172,p.F166L|ENST00000425731,p.F154L|ENST00000484399,p.F116L|uc011bno.2,p.F166L|ENST00000383075,p.F116L|uc003ewc.2,p.F46L|ENST00000473123,p.F116L|NM_001168378,p.F166L|uc003ewd.2,p.F116L|ENST00000462748,p.F116L|NM_032153,p.F116L|NM_001168379,p.F154L|uc021xff.1,p.F154L	retained_intron, protein_coding, processed_transcript	uc021xff.1	nonsynonymous SNV	exon3	c.C462G	p.F154L	TVNLAAPHGPGAFFRYMRQPIKQEL	TVNLAAPHGPGALFRYMRQPIKQEL	5.0	9.0	-	-	4259_3:147113979-147113979 G>C_TVNLAAPHGPGALFRYMRQPIKQEL
12:11244234-11244234 T>C	0.0	4259	COLON	-	-	-	-	TAS2R43	uc001qzq.1,p.I199V|ENST00000531678,p.I199V|NM_176884,p.I199V	protein_coding	uc001qzq.1	nonsynonymous SNV	exon1	c.A595G	p.I199V	PFTLTLLSFMLLICSLCKHLKKMQL	PFTLTLLSFMLLVCSLCKHLKKMQL	2.0	1.0	unscreened	-	4259_12:11244234-11244234 T>C_PFTLTLLSFMLLVCSLCKHLKKMQL
19:9046046-9046046 A>T	0.0	4259	COLON	-	-	-	2	MUC16	uc002mkp.3,p.I11862N|ENST00000397910,p.I11862N|NM_024690,p.I11862N	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon5	c.T35585A	p.I11862N	LSTHPGTETSTMIPTSTLSLGLLET	LSTHPGTETSTMNPTSTLSLGLLET	4.0	9.0	-	-	4259_19:9046046-9046046 A>T_LSTHPGTETSTMNPTSTLSLGLLET
1:248084470-248084470 ->G	0.0	4259	COLON	-	-	ID=COSM1341048;OCCURENCE=1(large_intestine)	-	OR2T8	uc010pzc.2,p.H51fs|NM_001005522,p.H51fs|ENST00000319968,p.H51fs	protein_coding	uc010pzc.2	frameshift insertion	exon1	c.151_152insG	p.H51fs	GNSLMILLIHWDHRLHTPMYFLLSQ	GNSLMILLIHWDRPAPHAHVLPPEPTFPHGRDAGFHHCAQNGG	1.0	5.0	unscreened	-	4259_1:248084470-248084470 ->G_GNSLMILLIHWDRPAPHAHVLPPEPTFPHGRDAGFHHCAQNGG
9:33386510-33386510 C>T	0.0	4259	COLON	-	-	ID=COSM4163745,COSM4163747,COSM4163746;OCCURENCE=1(thyroid)	-	AQP7	ENST00000379503,p.A36T	protein_coding, processed_transcript	ENST00000379503	nonsynonymous SNV	exon2	c.G106A	p.A36T	HTRAHMNAAVTFANCALGRVPWRKF	HTRAHMNAAVTFTNCALGRVPWRKF	7.0	2.0	unscreened	-	4259_9:33386510-33386510 C>T_HTRAHMNAAVTFTNCALGRVPWRKF
9:33386510-33386510 C>T	0.0	4259	COLON	-	-	ID=COSM4163745,COSM4163747,COSM4163746;OCCURENCE=1(thyroid)	-	AQP7	uc003zsu.1,p.A43T|ENST00000379507,p.A99T|ENST00000539936,p.A100T|uc011lnx.1,p.A100T|ENST00000379506,p.A99T|ENST00000377425,p.A43T|ENST00000297988,p.A100T|uc003zst.3,p.A100T|uc011lny.1,p.A99T|NM_001170,p.A100T	protein_coding, processed_transcript	uc011lny.1	nonsynonymous SNV	exon5	c.G295A	p.A99T	ISGAHMNAAVTFANCALGRVPWRKF	ISGAHMNAAVTFTNCALGRVPWRKF	7.0	2.0	unscreened	-	4259_9:33386510-33386510 C>T_ISGAHMNAAVTFTNCALGRVPWRKF
12:131488763-131488763 G>A	0.0	4259	COLON	-	-	-	-	GPR133	ENST00000376682,p.V79M|ENST00000544673,p.V84M|NM_198827,p.V393M|ENST00000535015,p.V425M|uc010tbm.2,p.V425M|uc001uit.4,p.V393M|ENST00000261654,p.V393M|ENST00000545900,p.V89M	retained_intron, protein_coding, processed_transcript	uc010tbm.2	nonsynonymous SNV	exon12	c.G1273A	p.V425M	AEFSVAKILPKTVNSSHYRFPAHGQ	AEFSVAKILPKTMNSSHYRFPAHGQ	5.0	5.0	-	-	4259_12:131488763-131488763 G>A_AEFSVAKILPKTMNSSHYRFPAHGQ
4:190876269-190876269 T>C	0.0	4259	COLON	-	-	-	-	FRG1	ENST00000226798,p.I132T|uc003izs.3,p.I132T|ENST00000531991,p.I69T|NM_004477,p.I132T	protein_coding, processed_transcript, nonsense_mediated_decay	uc003izs.3	nonsynonymous SNV	exon5	c.T395C	p.I132T	NSDGLVVGRSDAIGPREQWEPVFQN	NSDGLVVGRSDATGPREQWEPVFQN	10.0	1.0	unscreened	-	4259_4:190876269-190876269 T>C_NSDGLVVGRSDATGPREQWEPVFQN
19:4652413-4652413 G>A	1.0	4259	COLON	-	-	-	-	TNFAIP8L1	uc021une.1,p.G178S|ENST00000536716,p.G178S|NM_001167942,p.G178S|uc021unf.1,p.G178S|uc002max.3,p.G178S|ENST00000327473,p.G178S|NM_152362,p.G178S	protein_coding, processed_transcript	uc021unf.1	nonsynonymous SNV	exon1	c.G532A	p.G178S	YRSHLRRICEGLGRMLDEGSL	YRSHLRRICEGLSRMLDEGSL	7.0	8.0	-	-	4259_19:4652413-4652413 G>A_YRSHLRRICEGLSRMLDEGSL
11:122709283-122709283 C>A	0.0	4259	COLON	-	-	-	-	CRTAM	uc001pyj.3,p.A10E|ENST00000227348,p.A10E|NM_019604,p.A10E	retained_intron, protein_coding	uc001pyj.3	nonsynonymous SNV	exon1	c.C29A	p.A10E	MWWRVLSLLAWFPLQEASLTNH	MWWRVLSLLEWFPLQEASLTNH	4.0	5.0	-	-	4259_11:122709283-122709283 C>A_MWWRVLSLLEWFPLQEASLTNH
1:196397380-196397380 A>G	0.0	4259	COLON	-	-	-	-	KCNT2	uc009wyv.1,p.L255S|uc009wyu.3,p.L280S|uc001gte.1,p.L280S|ENST00000367433,p.L280S|ENST00000294725,p.L280S|uc001gtf.1,p.L280S|NM_001287819,p.L280S|ENST00000367431,p.L280S|NM_001287820,p.L280S|uc001gtd.1,p.L280S|NM_198503,p.L280S	protein_coding, processed_transcript	uc009wyv.1	nonsynonymous SNV	exon9	c.T764C	p.L255S	VVLPIQFEQLAYLWMERQKSGGNYS	VVLPIQFEQLAYSWMERQKSGGNYS	4.0	9.0	-	-	4259_1:196397380-196397380 A>G_VVLPIQFEQLAYSWMERQKSGGNYS
3:122642525-122642525 C>T	0.0	4259	COLON	-	-	ID=COSM218739,COSM218740;OCCURENCE=2(pancreas)	-	SEMA5B	uc011bju.2,p.R346H|uc003egb.2,p.R404H|ENST00000357599,p.R404H|NM_001256346,p.R404H|ENST00000393583,p.R404H|uc010hro.2,p.R346H|uc003efz.2,p.R404H|NM_001256348,p.R346H|ENST00000451055,p.R458H|NM_001256347,p.R458H|NM_001031702,p.R404H|ENST00000475244,p.R404H|uc031sbm.1,p.R458H|ENST00000195173,p.R404H	protein_coding, processed_transcript, nonsense_mediated_decay	uc031sbm.1	nonsynonymous SNV	exon10	c.G1373A	p.R458H	LSAISQAFNGPFRYQENPRAAWLPI	LSAISQAFNGPFHYQENPRAAWLPI	5.0	10.0	-	-	4259_3:122642525-122642525 C>T_LSAISQAFNGPFHYQENPRAAWLPI
12:25398285-25398285 C>A	1.0	4259	COLON	-	-	ID=COSM1140136,COSM516;OCCURENCE=15(stomach),1(central_nervous_system),8(upper_aerodigestive_tract),2(oesophagus),3(peritoneum),1776(lung),18(thyroid),17(haematopoietic_and_lymphoid_tissue),2(testis),2(cervix),4(gastrointestinal_tract_(site_indeterminate)),13(soft_tissue),34(ovary),38(endometrium),5(skin),11(breast),8(small_intestine),1(kidney),130(pancreas),4(liver),15(urinary_tract),1(adrenal_gland),1476(large_intestine),51(biliary_tract),10(prostate)	1	KRAS	ENST00000556131,p.G12C|ENST00000557334,p.G12C|ENST00000256078,p.G12C|ENST00000311936,p.G12C|uc001rgp.1,p.G12C|NM_033360,p.G12C|uc001rgq.1,p.G12C|NM_004985,p.G12C	protein_coding	uc001rgq.1	nonsynonymous SNV	exon2	c.G34T	p.G12C	MTEYKLVVVGAGGVGKSALTIQLI	MTEYKLVVVGACGVGKSALTIQLI	8.0	10.0	-	-	4259_12:25398285-25398285 C>A_MTEYKLVVVGACGVGKSALTIQLI
4:144801564-144801564 C>A	0.0	4259	COLON	-	-	-	-	GYPE	ENST00000358615,p.G46W|uc003ijj.3,p.G46W|uc003ijk.4,p.G46W|NM_002102,p.G46W|NM_198682,p.G46W|ENST00000437468,p.G46W	protein_coding, nonsense_mediated_decay	uc003ijk.4	nonsynonymous SNV	exon2	c.G136T	p.G46W	SVTKSYISSQTNGITLINWWAMARV	SVTKSYISSQTNWITLINWWAMARV	2.0	2.0	-	-	4259_4:144801564-144801564 C>A_SVTKSYISSQTNWITLINWWAMARV
17:72469783-72469783 G>A	0.0	4259	COLON	-	-	-	-	CD300A	NM_007261,p.C50Y|uc002jkv.4,p.C50Y|ENST00000360141,p.C50Y	retained_intron, protein_coding	uc002jkv.4	nonsynonymous SNV	exon2	c.G149A	p.C50Y	YEKEHRTLNKYWCRPPQIFLCDKIV	YEKEHRTLNKYWYRPPQIFLCDKIV	7.0	6.0	-	-	4259_17:72469783-72469783 G>A_YEKEHRTLNKYWYRPPQIFLCDKIV
19:51984835-51984835 C>T	0.0	4259	COLON	-	-	-	-	CEACAM18	uc002pwv.1,p.R258C|ENST00000396477,p.R197C|NM_001278392,p.R197C|ENST00000451626,p.R258C	protein_coding	uc002pwv.1	nonsynonymous SNV	exon4	c.C772T	p.R258C	PDGKTLVILRVSRYDRTIQCMIESF	PDGKTLVILRVSCYDRTIQCMIESF	6.0	9.0	-	-	4259_19:51984835-51984835 C>T_PDGKTLVILRVSCYDRTIQCMIESF
4:183675710-183675710 C>T	0.0	4259	COLON	-	-	ID=COSM1053548;OCCURENCE=1(endometrium)	-	TENM3	ENST00000406950,p.A1397V|uc003ive.1,p.A810V|NM_001080477,p.A1397V|uc003ivd.1,p.A1397V|ENST00000511685,p.A1397V	retained_intron, protein_coding, processed_transcript	uc003ive.1	nonsynonymous SNV	exon15	c.C2429T	p.A810V	QVPGVEYPVGKHAVQTTLESATAIA	QVPGVEYPVGKHVVQTTLESATAIA	4.0	9.0	-	-	4259_4:183675710-183675710 C>T_QVPGVEYPVGKHVVQTTLESATAIA
3:25665064-25665064 G>T	0.0	4259	COLON	-	-	-	-	TOP2B	NM_001068,p.A885D|ENST00000435706,p.A885D|uc021wug.1,p.A885D|ENST00000264331,p.A890D|uc011awn.1,p.A890D|ENST00000424225,p.A885D|uc003cdj.3,p.A885D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wug.1	nonsynonymous SNV	exon22	c.C2654A	p.A885D	GTGWACKLPNYDAREIVNNVRRMLD	GTGWACKLPNYDDREIVNNVRRMLD	9.0	8.0	-	-	4259_3:25665064-25665064 G>T_GTGWACKLPNYDDREIVNNVRRMLD
6:35212510-35212510 C>T	1.0	4259	COLON	-	-	-	-	SCUBE3	uc003okh.1,p.R662C|uc003okf.1,p.R775C|uc003okg.1,p.R774C|NM_152753,p.R775C|ENST00000274938,p.R775C|ENST00000394681,p.R791C	protein_coding	uc003okh.1	nonsynonymous SNV	exon18	c.C1984T	p.R662C	IRCAMGSYQPDFRQNFCSRCPGNTS	IRCAMGSYQPDFCQNFCSRCPGNTS	5.0	10.0	-	-	4259_6:35212510-35212510 C>T_IRCAMGSYQPDFCQNFCSRCPGNTS
20:37005269-37005269 C>A	0.0	4259	COLON	-	-	-	-	LBP	ENST00000217407,p.D468E|NM_004139,p.D468E|uc002xic.2,p.D468E	protein_coding	uc002xic.2	nonsynonymous SNV	exon15	c.C1404A	p.D468E	VQLYDLGLQIHKDFLFLGANVQYMR	VQLYDLGLQIHKEFLFLGANVQYMR	4.0	3.0	-	-	4259_20:37005269-37005269 C>A_VQLYDLGLQIHKEFLFLGANVQYMR
1:110714807-110714807 C>T	0.0	4259	COLON	-	-	-	-	SLC6A17	NM_001010898,p.R138C|uc009wfq.3,p.R138C|ENST00000331565,p.R138C	protein_coding, processed_transcript	uc009wfq.3	nonsynonymous SNV	exon3	c.C412T	p.R138C	RGSIGVWHYICPRLGGIGFSSCIVC	RGSIGVWHYICPCLGGIGFSSCIVC	3.0	9.0	-	-	4259_1:110714807-110714807 C>T_RGSIGVWHYICPCLGGIGFSSCIVC
14:74706545-74706545 T>C	0.0	4259	COLON	-	-	-	-	VSX2	uc001xpq.3,p.L94P|ENST00000261980,p.L94P|NM_182894,p.L94P	protein_coding	uc001xpq.3	nonsynonymous SNV	exon1	c.T281C	p.L94P	GGLPGFYTQPTFLEVLSDPQSVHLQ	GGLPGFYTQPTFPEVLSDPQSVHLQ	1.0	6.0	unscreened	-	4259_14:74706545-74706545 T>C_GGLPGFYTQPTFPEVLSDPQSVHLQ
9:70918571-70918571 C>G	1.0	4259	COLON	-	-	-	-	FOXD4L3	uc004agm.1,p.P235R|ENST00000342833,p.P235R|NM_199135,p.P235R	protein_coding	uc004agm.1	nonsynonymous SNV	exon1	c.C704G	p.P235R	AAHAALHNPRPGPLLGAPAPPQPVP	AAHAALHNPRPGRLLGAPAPPQPVP	3.0	1.0	unscreened	-	4259_9:70918571-70918571 C>G_AAHAALHNPRPGRLLGAPAPPQPVP
6:43970503-43970503 ->GCGGCG	1.0	4259	COLON	-	-	-	-	C6orf223	NM_153246,p.R123delinsRAA|uc003own.3,p.R123delinsRAA|ENST00000336600,p.R123delinsRAA	retained_intron, protein_coding, processed_transcript	uc003own.3	nonframeshift insertion	exon4	c.369_370insGCGGCG	p.R123delinsRAA	ARMSRRTRGPVERAAAAAAAAAGGD	ARMSRRTRGPVERAAAAAAAAAAAG	8.0	1.0	unscreened	-	4259_6:43970503-43970503 ->GCGGCG_ARMSRRTRGPVERAAAAAAAAAAAG
1:92442910-92442910 A>G	0.0	4259	COLON	-	-	-	-	BRDT	NM_001242810,p.Y237C|NM_001242807,p.Y264C|ENST00000370389,p.Y237C|ENST00000426141,p.Y310C|ENST00000362005,p.Y310C|uc001dom.4,p.Y310C|uc010otb.2,p.Y264C|ENST00000402388,p.Y310C|NM_001242808,p.Y264C|NM_207189,p.Y310C|uc001dol.4,p.Y310C|uc001dok.4,p.Y310C|ENST00000399546,p.Y310C|NM_001726,p.Y310C|uc010osz.2,p.Y314C|NM_001242806,p.Y314C|NM_001242805,p.Y310C|uc010ota.2,p.Y264C|uc009wdf.3,p.Y237C|ENST00000394530,p.Y264C	protein_coding, processed_transcript	uc010otb.2	nonsynonymous SNV	exon5	c.A791G	p.Y264C	PVDVNALGLHNYYDVVKNPMDLGTI	PVDVNALGLHNYCDVVKNPMDLGTI	1.0	1.0	unscreened	-	4259_1:92442910-92442910 A>G_PVDVNALGLHNYCDVVKNPMDLGTI
3:195506569-195506569 A>G	0.0	4259	COLON	-	-	-	2	MUC4	ENST00000477086,p.V3961A|ENST00000479406,p.V3961A|ENST00000480843,p.V3961A|ENST00000478156,p.V3961A|ENST00000463781,p.V3961A|ENST00000462323,p.V3961A|uc021xjp.1,p.V3961A|ENST00000470451,p.V3961A|NM_018406,p.V3961A|ENST00000477756,p.V3961A|ENST00000466475,p.V3961A|ENST00000475231,p.V3961A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.T11882C	p.V3961A	DTTPLPVTDTSSVSTGHATSLPVTS	DTTPLPVTDTSSASTGHATSLPVTS	5.0	2.0	unscreened	-	4259_3:195506569-195506569 A>G_DTTPLPVTDTSSASTGHATSLPVTS
20:21689252-21689252 G>A	0.0	4259	COLON	0.0005	-	ID=COSM723379,COSM723378;OCCURENCE=1(lung)	-	PAX1	uc002wsj.3,p.G325S|NM_001257096,p.G325S|uc010zsm.3,p.G301S|ENST00000444366,p.G301S|uc010zsl.3,p.G325S|ENST00000398485,p.G325S|NM_006192,p.G325S	retained_intron, protein_coding, processed_transcript	uc010zsm.3	nonsynonymous SNV	exon2	c.G901A	p.G301S	GTAYSPKMEDWAGVNRTAFPATPAV	GTAYSPKMEDWASVNRTAFPATPAV	1.0	10.0	-	-	4259_20:21689252-21689252 G>A_GTAYSPKMEDWASVNRTAFPATPAV
5:31545798-31545798 G>A	0.0	4259	COLON	-	-	-	-	C5orf22	uc003jhj.4,p.M346I|ENST00000325366,p.M346I|uc003jhk.4,p.M81I|NM_018356,p.M346I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jhk.4	nonsynonymous SNV	exon7	c.G243A	p.M81I	SLVPLVQSLKKRMEVPDYEMVHQAG	SLVPLVQSLKKRIEVPDYEMVHQAG	9.0	3.0	-	-	4259_5:31545798-31545798 G>A_SLVPLVQSLKKRIEVPDYEMVHQAG
6:30994037-30994037 A>G	0.0	4259	COLON	-	-	-	-	MUC22	ENST00000561890,p.T277A|uc021yuh.1,p.T280A|NM_001198815,p.T277A|uc021yug.1,p.T277A	protein_coding	uc021yuh.1	nonsynonymous SNV	exon3	c.A838G	p.T280A	SNTTTASTTGSETTTILIKASETTT	SNTTTASTTGSEATTILIKASETTT	1.0	1.0	unscreened	-	4259_6:30994037-30994037 A>G_SNTTTASTTGSEATTILIKASETTT
15:66727400-66727400 A>G	0.0	4259	COLON	-	-	-	1	MAP2K1	NM_002755,p.E39G|uc010bhq.3,p.E39G|ENST00000307102,p.E39G	retained_intron, protein_coding	uc010bhq.3	nonsynonymous SNV	exon2	c.A116G	p.E39G	ETNLEALQKKLEELELDEQQRKRLE	ETNLEALQKKLEGLELDEQQRKRLE	9.0	2.0	-	-	4259_15:66727400-66727400 A>G_ETNLEALQKKLEGLELDEQQRKRLE
15:66727400-66727400 A>G	0.0	4259	COLON	-	-	-	1	MAP2K1	uc010ujp.2,p.E17G	retained_intron, protein_coding	uc010ujp.2	nonsynonymous SNV	exon2	c.A50G	p.E17G	RTNLEALQKKLEELELDEQQRKRLE	RTNLEALQKKLEGLELDEQQRKRLE	9.0	2.0	-	-	4259_15:66727400-66727400 A>G_RTNLEALQKKLEGLELDEQQRKRLE
22:20096477-20096477 A>G	1.0	4259	COLON	-	-	-	2	DGCR8	uc002zri.3,p.H730R|ENST00000407755,p.H697R|ENST00000383024,p.H697R|uc010grz.3,p.H697R|ENST00000351989,p.H730R|NM_022720,p.H730R|NM_001190326,p.H697R|uc002zrj.3,p.H373R	retained_intron, protein_coding	uc010grz.3	nonsynonymous SNV	exon12	c.A2090G	p.H697R	LQQYAKKNKPNLHILSKLQEEMKRL	LQQYAKKNKPNLRILSKLQEEMKRL	8.0	9.0	-	-	4259_22:20096477-20096477 A>G_LQQYAKKNKPNLRILSKLQEEMKRL
2:177054558-177054558 C>T	1.0	4259	COLON	-	-	-	-	HOXD1	uc010fqy.4,p.R270C	protein_coding	uc010fqy.4	nonsynonymous SNV	exon3	c.C808T	p.R270C	WNFSWQTRRVWGR	WNFSWQTRRVWGC	6.0	10.0	-	-	4259_2:177054558-177054558 C>T_WNFSWQTRRVWGC
6:10804057-10804057 C>T	0.0	4259	COLON	-	-	-	-	MAK	ENST00000536370,p.G187R|NM_001242385,p.G187R|uc021ylk.1,p.G187R|NM_001242957,p.G187R|ENST00000354489,p.G187R|ENST00000313243,p.G187R|NM_005906,p.G187R|uc003mzm.3,p.G187R|ENST00000474039,p.G187R|uc021yll.1,p.G187R|ENST00000538030,p.G187R	protein_coding, processed_transcript	uc021yll.1	nonsynonymous SNV	exon7	c.G559A	p.G187R	SVYSSPIDVWAVGSIMAELYMLRPL	SVYSSPIDVWAVRSIMAELYMLRPL	2.0	6.0	-	-	4259_6:10804057-10804057 C>T_SVYSSPIDVWAVRSIMAELYMLRPL
17:77758461-77758461 G>A	1.0	4259	COLON	-	-	ID=COSM1172530;OCCURENCE=1(oesophagus)	-	CBX2	NM_005189,p.D407N|uc002jxc.3,p.D407N|ENST00000310942,p.D407N	retained_intron, protein_coding	uc002jxc.3	nonsynonymous SNV	exon5	c.G1219A	p.D407N	GLIGASGATMPTDTSKSEKLASRAV	GLIGASGATMPTNTSKSEKLASRAV	8.0	5.0	-	-	4259_17:77758461-77758461 G>A_GLIGASGATMPTNTSKSEKLASRAV
9:132658109-132658109 C>A	1.0	4259	COLON	-	-	-	2	FNBP1	uc004byy.1,p.K524N|uc004byx.1,p.K534N|uc004byz.1,p.K589N|ENST00000355681,p.K589N	protein_coding, processed_transcript	uc004byz.1	nonsynonymous SNV	exon16	c.G1767T	p.K589N	VEVCLDKNAKGAKTYI	VEVCLDKNAKGANTYI	8.0	4.0	-	-	4259_9:132658109-132658109 C>A_VEVCLDKNAKGANTYI
10:31799763-31799763 T>A	0.0	4259	COLON	-	-	-	2	ZEB1	uc001ivv.4,p.L195H|NM_001174096,p.L216H|NM_001174095,p.L148H|uc009xlj.1,p.L141H|ENST00000542815,p.L148H|uc010qeh.2,p.L148H|ENST00000446923,p.L199H|uc001ivs.4,p.L215H|ENST00000559476,p.L199H|uc001ivu.4,p.L216H|ENST00000361642,p.L216H|ENST00000424869,p.L216H|NM_030751,p.L215H|NM_001128128,p.L199H|ENST00000560721,p.L195H|ENST00000320985,p.L215H|ENST00000561212,p.L223H|ENST00000558440,p.L141H|uc010qeg.1,p.L74H|uc009xlo.2,p.L198H|NM_001174094,p.L198H|NM_001174093,p.L195H|uc009xlp.3,p.L199H	retained_intron, protein_coding, processed_transcript	uc010qeh.2	nonsynonymous SNV	exon4	c.T443A	p.L148H	SLCSYTFAYRTQLERHMTSHKSGRD	SLCSYTFAYRTQHERHMTSHKSGRD	6.0	1.0	-	-	4259_10:31799763-31799763 T>A_SLCSYTFAYRTQHERHMTSHKSGRD
2:128263249-128263249 A>G	0.0	4259	COLON	-	-	-	-	IWS1	ENST00000455721,p.L84P|ENST00000295321,p.L77P|uc002ton.2,p.L77P|NM_017969,p.L77P|ENST00000409725,p.L82P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ton.2	nonsynonymous SNV	exon3	c.T230C	p.L77P	HVTDSENDEPLNLNASDSESEELHR	HVTDSENDEPLNPNASDSESEELHR	9.0	6.0	-	-	4259_2:128263249-128263249 A>G_HVTDSENDEPLNPNASDSESEELHR
3:195512243-195512243 G>C	0.0	4259	COLON	-	rs75860069	-	2	MUC4	ENST00000466475,p.P2070A|uc021xjp.1,p.P2070A|ENST00000479406,p.P2070A|ENST00000475231,p.P2070A|NM_018406,p.P2070A|ENST00000477756,p.P2070A|ENST00000463781,p.P2070A|ENST00000462323,p.P2070A|ENST00000470451,p.P2070A|ENST00000478156,p.P2070A|ENST00000477086,p.P2070A|ENST00000480843,p.P2070A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C6208G	p.P2070A	STGDTTPLPVTNPSSASTGHATPLL	STGDTTPLPVTNASSASTGHATPLL	5.0	1.0	unscreened	-	4259_3:195512243-195512243 G>C_STGDTTPLPVTNASSASTGHATPLL
3:121414525-121414525 C>A	0.0	4259	COLON	-	-	-	-	GOLGB1	uc021xcy.2,p.E1535D|NM_001256488,p.E1535D|NM_001256487,p.E1576D|uc010hrd.2,p.E1574D|uc010hrc.4,p.E1615D|uc011bjm.1,p.E1496D|ENST00000494517,p.E1574D|ENST00000393667,p.E1615D|uc003eej.5,p.E1576D|NM_004487,p.E1610D|uc003eei.5,p.E1610D|NM_001256486,p.E1615D|ENST00000340645,p.E1610D	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xcy.2	nonsynonymous SNV	exon12	c.G4605T	p.E1535D	IAESTEWQEKHKELQKEYEILLQSY	IAESTEWQEKHKDLQKEYEILLQSY	9.0	1.0	unscreened	-	4259_3:121414525-121414525 C>A_IAESTEWQEKHKDLQKEYEILLQSY
9:43625984-43625984 C>A	0.0	4259	COLON	-	-	-	-	SPATA31A6	ENST00000332857,p.W901C|NM_001145196,p.W901C|uc011lrb.2,p.W901C	protein_coding, processed_transcript	uc011lrb.2	nonsynonymous SNV	exon4	c.G2703T	p.W901C	KQFQRAPRGIPSWNDHGPLKPPPAG	KQFQRAPRGIPSCNDHGPLKPPPAG	1.0	10.0	-	-	4259_9:43625984-43625984 C>A_KQFQRAPRGIPSCNDHGPLKPPPAG
17:39240627-39240627 T>C	0.0	4259	COLON	-	-	-	-	KRTAP4-7	ENST00000391417,p.S57P|uc010wfn.2,p.S57P|NM_033061,p.S57P	protein_coding	uc010wfn.2	nonsynonymous SNV	exon1	c.T169C	p.S57P	CVSSCCRPQCCQSVCCQPTCCRPTC	CVSSCCRPQCCQPVCCQPTCCRPTC	1.0	1.0	unscreened	-	4259_17:39240627-39240627 T>C_CVSSCCRPQCCQPVCCQPTCCRPTC
X:12736762-12736762 G>A	0.0	4259	COLON	-	-	-	-	FRMPD4	uc004cuz.2,p.A1273T|NM_014728,p.A1273T|ENST00000380682,p.A1273T|uc011mij.2,p.A1265T	protein_coding	uc011mij.2	nonsynonymous SNV	exon17	c.G3793A	p.A1265T	SEERAPGLPNHGATFKELHPQTEGM	SEERAPGLPNHGTTFKELHPQTEGM	2.0	4.0	-	-	4259_X:12736762-12736762 G>A_SEERAPGLPNHGTTFKELHPQTEGM
15:65703370-65703370 C>T	0.0	4259	COLON	0.0014	-	-	-	IGDCC4	uc002aou.1,p.V137I|NM_020962,p.V137I|ENST00000352385,p.V137I	retained_intron, protein_coding, processed_transcript	uc002aou.1	nonsynonymous SNV	exon2	c.G409A	p.V137I	GPLGVLASQTAVVKLATLADFSLHP	GPLGVLASQTAVIKLATLADFSLHP	5.0	4.0	-	-	4259_15:65703370-65703370 C>T_GPLGVLASQTAVIKLATLADFSLHP
X:153668350-153668350 G>A	0.0	4259	COLON	-	-	ID=COSM3964958;OCCURENCE=1(lung)	-	GDI1	uc011mzo.1,p.D151N|ENST00000447750,p.D151N|uc004fli.4,p.D151N|NM_001493,p.D151N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011mzo.1	nonsynonymous SNV	exon5	c.G451A	p.D151N	RFRKFLVFVANFDENDPKTFEGVDP	RFRKFLVFVANFNENDPKTFEGVDP	9.0	4.0	-	-	4259_X:153668350-153668350 G>A_RFRKFLVFVANFNENDPKTFEGVDP
7:71175788-71175788 C>A	0.0	4259	COLON	-	-	-	-	WBSCR17	uc003tvy.4,p.L515M|NM_022479,p.L515M|uc003tvz.4,p.L214M|ENST00000333538,p.L515M	protein_coding, processed_transcript	uc003tvz.4	nonsynonymous SNV	exon10	c.C640A	p.L214M	RYTKEGFLHLGALGTTTLLPDTRCL	RYTKEGFLHLGAMGTTTLLPDTRCL	4.0	7.0	-	-	4259_7:71175788-71175788 C>A_RYTKEGFLHLGAMGTTTLLPDTRCL
20:31887744-31887744 T>A	0.0	4259	COLON	-	-	-	-	BPIFB1	ENST00000253354,p.L234H|uc031rst.1,p.L65H|uc002wyw.1,p.L234H|NM_033197,p.L234H	protein_coding, processed_transcript	uc031rst.1	nonsynonymous SNV	exon3	c.T194A	p.L65H	PISLSIDRLEFDLLYPAIKGDTIQL	PISLSIDRLEFDHLYPAIKGDTIQL	2.0	3.0	-	-	4259_20:31887744-31887744 T>A_PISLSIDRLEFDHLYPAIKGDTIQL
21:46011987-46011987 A>G	0.0	4259	COLON	-	rs13051603	-	-	KRTAP10-6	ENST00000400368,p.S127P|uc002zfm.3,p.S127P|NM_198688,p.S127P	protein_coding	uc002zfm.3	nonsynonymous SNV	exon1	c.T379C	p.S127P	CKTVCCKPVCCVSVCCGDSSCCQQS	CKTVCCKPVCCVPVCCGDSSCCQQS	1.0	2.0	unscreened	-	4259_21:46011987-46011987 A>G_CKTVCCKPVCCVPVCCGDSSCCQQS
16:15811142-15811142 G>A	0.0	4259	COLON	0.0005	-	-	1	MYH11	uc010bvg.3,p.R1619W|NM_002474,p.R1787W|NM_001040114,p.R1794W|ENST00000300036,p.R1787W|NM_001040113,p.R1794W|ENST00000338282,p.R1787W|ENST00000576790,p.R1787W|ENST00000452625,p.R1794W|uc002ddw.3,p.R1787W|ENST00000396324,p.R1794W|uc002ddy.3,p.R1787W|uc010bvh.3,p.R493W|uc002ddv.3,p.R1794W|uc002ddx.3,p.R1794W|NM_022844,p.R1787W	retained_intron, protein_coding, processed_transcript	uc010bvh.3	nonsynonymous SNV	exon10	c.C1477T	p.R493W	TERSTAQKNESARQQLERQNKELRS	TERSTAQKNESAWQQLERQNKELRS	6.0	2.0	unscreened	-	4259_16:15811142-15811142 G>A_TERSTAQKNESAWQQLERQNKELRS
4:30725908-30725908 A>T	0.0	4259	COLON	-	-	-	-	PCDH7	NM_032456,p.E955V|NM_001173523,p.E955V|NM_002589,p.E955V|ENST00000543491,p.E955V|uc011bxx.2,p.E955V|ENST00000361762,p.E955V|uc003gsk.1,p.E955V|uc021xnc.1,p.E955V|uc021xnd.1,p.E955V|NM_032457,p.E955V	protein_coding, processed_transcript	uc021xnd.1	nonsynonymous SNV	exon1	c.A2864T	p.E955V	SKQPLYSSIVTVEASKPNGQRYDSV	SKQPLYSSIVTVVASKPNGQRYDSV	5.0	8.0	-	-	4259_4:30725908-30725908 A>T_SKQPLYSSIVTVVASKPNGQRYDSV
1:171173059-171173059 G>A	0.0	4259	COLON	-	-	-	-	FMO2	uc001ghk.1,p.G228D|ENST00000209929,p.G228D|ENST00000441535,p.G228D	retained_intron, protein_coding, processed_transcript	uc001ghk.1	nonsynonymous SNV	exon6	c.G683A	p.G228D	HGTWVMSRISEDGYPWDSVFHTRFR	HGTWVMSRISEDDYPWDSVFHTRFR	3.0	8.0	-	-	4259_1:171173059-171173059 G>A_HGTWVMSRISEDDYPWDSVFHTRFR
2:25358487-25358487 G>A	1.0	4259	COLON	-	-	-	-	EFR3B	uc010eyh.3,p.R488H|ENST00000403714,p.R488H|NM_014971,p.R488H|uc002rfw.2,p.R488H|ENST00000264719,p.R367H|ENST00000401432,p.R488H|ENST00000402191,p.R453H|ENST00000405108,p.R340H	protein_coding	uc010eyh.3	nonsynonymous SNV	exon13	c.G1463A	p.R488H	EILISFIDRHGNRHKFSTISTLSDI	EILISFIDRHGNHHKFSTISTLSDI	5.0	9.0	-	-	4259_2:25358487-25358487 G>A_EILISFIDRHGNHHKFSTISTLSDI
11:17574965-17574965 C>A	0.0	4259	COLON	-	-	-	-	OTOG	NM_001277269,p.H159N|ENST00000399397,p.H86N|uc031pzc.1,p.H159N|ENST00000399391,p.H159N|NM_001292063,p.H147N	retained_intron, protein_coding, processed_transcript	uc031pzc.1	nonsynonymous SNV	exon5	c.C475A	p.H159N	ERDSICRAWGQHHVETFDGLYYYLS	ERDSICRAWGQHNVETFDGLYYYLS	4.0	7.0	-	-	4259_11:17574965-17574965 C>A_ERDSICRAWGQHNVETFDGLYYYLS
4:2065844-2065844 G>A	0.0	4259	COLON	-	-	-	-	NAT8L	NM_178557,p.R300H|ENST00000331662,p.R132H|ENST00000423729,p.R300H|uc003geq.2,p.R300H	protein_coding	uc003geq.2	nonsynonymous SNV	exon3	c.G899A	p.R300H	FQVRYHRYRLQLREE	FQVRYHRYRLQLHEE	5.0	10.0	-	-	4259_4:2065844-2065844 G>A_FQVRYHRYRLQLHEE
2:141291664-141291664 C>T	0.0	4259	COLON	0.0	-	-	1	LRP1B	ENST00000389484,p.R2563H|NM_018557,p.R2563H|uc002tvj.1,p.R2563H	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon47	c.G7688A	p.R2563H	SCRRGFKPCYNRRCIPHGKLCDGEN	SCRRGFKPCYNRHCIPHGKLCDGEN	3.0	10.0	-	-	4259_2:141291664-141291664 C>T_SCRRGFKPCYNRHCIPHGKLCDGEN
1:26349255-26349255 C>T	0.0	4259	COLON	-	-	-	-	EXTL1	NM_004455,p.P40S|uc001blf.3,p.P40S|ENST00000374280,p.P40S	protein_coding, processed_transcript	uc001blf.3	nonsynonymous SNV	exon1	c.C118T	p.P40S	SLLRLALPPRPRPGASQGWPRWLDA	SLLRLALPPRPRSGASQGWPRWLDA	4.0	9.0	-	-	4259_1:26349255-26349255 C>T_SLLRLALPPRPRSGASQGWPRWLDA
11:65793355-65793355 C>T	0.0	4259	COLON	-	-	ID=COSM77423;OCCURENCE=2(large_intestine),1(ovary),1(endometrium)	-	CATSPER1	uc001ogt.3,p.V166M|ENST00000312106,p.V166M|NM_053054,p.V166M	retained_intron, protein_coding	uc001ogt.3	nonsynonymous SNV	exon1	c.G496A	p.V166M	YLGENLSHYSSGVPHHGEASHHGGS	YLGENLSHYSSGMPHHGEASHHGGS	8.0	7.0	-	-	4259_11:65793355-65793355 C>T_YLGENLSHYSSGMPHHGEASHHGGS
9:34726204-34726204 G>A	0.0	4259	COLON	0.19	rs521574	ID=COSM3952674,COSM3952675;OCCURENCE=1(lung),2(thyroid)	-	FAM205A	uc011lor.2,p.P345S|NM_001141917,p.P345S|ENST00000378788,p.P345S	protein_coding	uc011lor.2	nonsynonymous SNV	exon4	c.C1033T	p.P345S	NDQPVSFNLKNTPQVSLHRFETISL	NDQPVSFNLKNTSQVSLHRFETISL	1.0	1.0	unscreened	-	4259_9:34726204-34726204 G>A_NDQPVSFNLKNTSQVSLHRFETISL
1:158590071-158590071 C>A	0.0	4259	COLON	-	-	-	-	SPTA1	ENST00000368148,p.L2102F|uc001fst.1,p.L2102F|ENST00000368147,p.L2099F|NM_003126,p.L2102F	protein_coding, processed_transcript	uc001fst.1	nonsynonymous SNV	exon44	c.G6306T	p.L2102F	ASLARAQADFKCLLELDQQIKALGV	ASLARAQADFKCFLELDQQIKALGV	2.0	8.0	-	-	4259_1:158590071-158590071 C>A_ASLARAQADFKCFLELDQQIKALGV
15:75585461-75585461 C>T	0.0	4259	COLON	-	rs3964634	-	-	GOLGA6D	NM_001145224,p.P517S|ENST00000434739,p.P517S|uc010uma.2,p.P517S	protein_coding	uc010uma.2	nonsynonymous SNV	exon14	c.C1549T	p.P517S	QHLDSEEEEAPRPTPNIPEDLESRE	QHLDSEEEEAPRSTPNIPEDLESRE	2.0	1.0	unscreened	-	4259_15:75585461-75585461 C>T_QHLDSEEEEAPRSTPNIPEDLESRE
13:102359130-102359130 G>C	0.0	4259	COLON	-	-	-	-	ITGBL1	uc010agb.4,p.R337P|NM_001271754,p.R245P|ENST00000545560,p.R245P|NM_001271755,p.R337P|uc001vpc.5,p.R245P|NM_004791,p.R386P|NM_001271756,p.R293P|ENST00000376180,p.R386P|ENST00000376162,p.R293P|uc001vpb.4,p.R386P|uc031qnc.1,p.R293P	protein_coding, processed_transcript	uc031qnc.1	nonsynonymous SNV	exon8	c.G878C	p.R293P	VVCGGHGTCSCGRCVCERGWFGKLC	VVCGGHGTCSCGPCVCERGWFGKLC	7.0	6.0	-	-	4259_13:102359130-102359130 G>C_VVCGGHGTCSCGPCVCERGWFGKLC
1:182827922-182827922 G>A	1.0	4259	COLON	-	-	-	-	DHX9	NM_001357,p.E319K|uc001gpr.3,p.E319K|ENST00000367549,p.E319K|uc001gps.3,p.E105K	protein_coding, processed_transcript	uc001gps.3	nonsynonymous SNV	exon11	c.G313A	p.E105K	PVALNIGKLAQFEPSQRQNQVGVVP	PVALNIGKLAQFKPSQRQNQVGVVP	10.0	9.0	-	-	4259_1:182827922-182827922 G>A_PVALNIGKLAQFKPSQRQNQVGVVP
8:2808706-2808706 C>G	0.0	4259	COLON	-	-	-	-	CSMD1	uc022aqr.1,p.W3377C|ENST00000400186,p.W3201C|uc010lrg.3,p.W1269C|ENST00000602723,p.W3201C|NM_033225,p.W3377C|ENST00000537824,p.W3377C|ENST00000602557,p.W3378C|ENST00000520002,p.W3378C|uc011kwj.2,p.W2692C|ENST00000542608,p.W3200C	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon66	c.G10131C	p.W3377C	LGKRQPATLTVDWFNATSSKVNATF	LGKRQPATLTVDCFNATSSKVNATF	3.0	9.0	-	-	4259_8:2808706-2808706 C>G_LGKRQPATLTVDCFNATSSKVNATF
3:195509939-195509939 G>T	0.0	4259	COLON	-	-	-	2	MUC4	ENST00000478156,p.P2838T|ENST00000477086,p.P2838T|ENST00000462323,p.P2838T|ENST00000463781,p.P2838T|ENST00000480843,p.P2838T|ENST00000477756,p.P2838T|ENST00000475231,p.P2838T|ENST00000479406,p.P2838T|uc021xjp.1,p.P2838T|NM_018406,p.P2838T|ENST00000466475,p.P2838T|ENST00000470451,p.P2838T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C8512A	p.P2838T	FTGHATSLPVTIPSSASSGHTTPLP	FTGHATSLPVTITSSASSGHTTPLP	5.0	3.0	unscreened	-	4259_3:195509939-195509939 G>T_FTGHATSLPVTITSSASSGHTTPLP
3:195510803-195510803 G>T	0.0	4259	COLON	-	-	-	2	MUC4	ENST00000480843,p.P2550T|ENST00000462323,p.P2550T|NM_018406,p.P2550T|ENST00000466475,p.P2550T|ENST00000478156,p.P2550T|ENST00000463781,p.P2550T|uc021xjp.1,p.P2550T|ENST00000479406,p.P2550T|ENST00000475231,p.P2550T|ENST00000477086,p.P2550T|ENST00000477756,p.P2550T|ENST00000470451,p.P2550T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C7648A	p.P2550T	STRHATSLHVTSPSSASTGHATSLP	STRHATSLHVTSTSSASTGHATSLP	5.0	1.0	unscreened	-	4259_3:195510803-195510803 G>T_STRHATSLHVTSTSSASTGHATSLP
3:17053148-17053148 A>T	0.0	4259	COLON	-	-	-	-	PLCL2	ENST00000418129,p.K644N|uc011awd.2,p.K644N|NM_015184,p.K644N|ENST00000396755,p.K644N|ENST00000432376,p.K644N	protein_coding, processed_transcript	uc011awd.2	nonsynonymous SNV	exon2	c.A1932T	p.K644N	IKIISGQNFPKPKGSGAKGDVVDPY	IKIISGQNFPKPNGSGAKGDVVDPY	6.0	8.0	-	-	4259_3:17053148-17053148 A>T_IKIISGQNFPKPNGSGAKGDVVDPY
6:41160541-41160541 G>T	1.0	4259	COLON	-	-	-	-	TREML2	NM_024807,p.A295E|ENST00000483722,p.A295E|uc010jxm.1,p.A295E	protein_coding	uc010jxm.1	nonsynonymous SNV	exon4	c.C884A	p.A295E	IMVYGFWKKRHMASYSMCSDPSTRD	IMVYGFWKKRHMESYSMCSDPSTRD	5.0	9.0	-	-	4259_6:41160541-41160541 G>T_IMVYGFWKKRHMESYSMCSDPSTRD
4:30725909-30725909 G>T	0.0	4259	COLON	-	-	-	-	PCDH7	uc021xnc.1,p.E955D|ENST00000543491,p.E955D|uc021xnd.1,p.E955D|NM_032456,p.E955D|uc011bxx.2,p.E955D|NM_001173523,p.E955D|ENST00000361762,p.E955D|NM_032457,p.E955D|NM_002589,p.E955D|uc003gsk.1,p.E955D	protein_coding, processed_transcript	uc021xnd.1	nonsynonymous SNV	exon1	c.G2865T	p.E955D	SKQPLYSSIVTVEASKPNGQRYDSV	SKQPLYSSIVTVDASKPNGQRYDSV	5.0	8.0	unscreened	-	4259_4:30725909-30725909 G>T_SKQPLYSSIVTVDASKPNGQRYDSV
4:144801564-144801564 C>A	0.0	4259	COLON	-	-	-	-	GYPE	ENST00000506264,p.G46C	protein_coding, nonsense_mediated_decay	ENST00000506264	nonsynonymous SNV	exon2	c.G136T	p.G46C	SVTKSYISSQTNGCVIGNIICSDKS	SVTKSYISSQTNCCVIGNIICSDKS	2.0	2.0	-	-	4259_4:144801564-144801564 C>A_SVTKSYISSQTNCCVIGNIICSDKS
7:120387893-120387893 T>A	0.0	4259	COLON	-	-	-	-	KCND2	NM_012281,p.V625D|ENST00000331113,p.V625D|uc003vjj.1,p.V625D	retained_intron, protein_coding	uc003vjj.1	nonsynonymous SNV	exon6	c.T1874A	p.V625D	RPESPEYSGGNIVRVSAL	RPESPEYSGGNIDRVSAL	1.0	8.0	-	-	4259_7:120387893-120387893 T>A_RPESPEYSGGNIDRVSAL
6:30994021-30994021 ->ACTGAAGGCTCTGAG	0.0	4259	COLON	-	-	-	-	MUC22	ENST00000561890,p.S271delinsSTEGSE|NM_001198815,p.S271delinsSTEGSE|uc021yuh.1,p.S274delinsSTEGSE|uc021yug.1,p.S271delinsSTEGSE	protein_coding	uc021yuh.1	nonframeshift insertion	exon3	c.822_823insACTGAAGGCTCTGAG	p.S274delinsSTEGSE	VAPAAGSNTTTASTTGSETTTILIK	VAPAAGSNTTTASTEGSETTGSETT	1.0	1.0	unscreened	-	4259_6:30994021-30994021 ->ACTGAAGGCTCTGAG_VAPAAGSNTTTASTEGSETTGSETT
19:8606848-8606848 C>T	1.0	4259	COLON	-	-	-	-	MYO1F	NM_012335,p.E518K|uc002mkg.3,p.E518K|ENST00000602136,p.E99K|ENST00000338257,p.E518K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkg.3	nonsynonymous SNV	exon15	c.G1552A	p.E518K	AGKVSYDVSGFCERNRDVLFSDLIE	AGKVSYDVSGFCKRNRDVLFSDLIE	7.0	9.0	-	-	4259_19:8606848-8606848 C>T_AGKVSYDVSGFCKRNRDVLFSDLIE
X:99919837-99919837 T>C	0.0	4259	COLON	-	-	-	-	SRPX2	ENST00000373004,p.L141P|NM_014467,p.L141P|uc004egb.3,p.L141P	protein_coding, processed_transcript	uc004egb.3	nonsynonymous SNV	exon5	c.T422C	p.L141P	TSGTYTCTNGVLLDSRCDYSCSSGY	TSGTYTCTNGVLPDSRCDYSCSSGY	7.0	3.0	-	-	4259_X:99919837-99919837 T>C_TSGTYTCTNGVLPDSRCDYSCSSGY
17:39254005-39254005 T>C	0.0	4259	COLON	-	-	-	-	KRTAP4-8	NM_031960,p.K111R|uc010wfo.2,p.K111R|ENST00000333822,p.K111R	protein_coding	uc010wfo.2	nonsynonymous SNV	exon1	c.A332G	p.K111R	CCRPSCCVSSCCKPQCCQSVCCQPN	CCRPSCCVSSCCRPQCCQSVCCQPN	1.0	1.0	unscreened	-	4259_17:39254005-39254005 T>C_CCRPSCCVSSCCRPQCCQSVCCQPN
6:97247390-97247390 A>T	0.0	4259	COLON	-	-	-	-	GPR63	uc003pou.3,p.F73Y|ENST00000229955,p.F73Y|NM_001143957,p.F73Y|uc021zcy.1,p.F73Y|uc010kcl.3,p.F73Y|ENST00000417980,p.F73Y|NM_030784,p.F73Y	protein_coding	uc021zcy.1	nonsynonymous SNV	exon1	c.T218A	p.F73Y	VNSTAVPTTPAAFKSLNLPLQITLS	VNSTAVPTTPAAYKSLNLPLQITLS	3.0	2.0	-	-	4259_6:97247390-97247390 A>T_VNSTAVPTTPAAYKSLNLPLQITLS
6:88066164-88066164 A>T	0.0	4259	COLON	-	-	-	-	C6orf163	NM_001010868,p.E166V|ENST00000369574,p.E40V|ENST00000388923,p.E166V|uc021zcl.1,p.E166V	protein_coding	uc021zcl.1	nonsynonymous SNV	exon4	c.A497T	p.E166V	MMECHREKVEAVEKARAEERHIAQE	MMECHREKVEAVVKARAEERHIAQE	6.0	8.0	-	-	4259_6:88066164-88066164 A>T_MMECHREKVEAVVKARAEERHIAQE
X:56310789-56310789 A>T	0.0	4259	COLON	-	-	-	-	KLF8	uc004dur.3,p.K314N|ENST00000468660,p.K314N|NM_007250,p.K314N|uc031tjs.1,p.K230N	retained_intron, protein_coding, nonsense_mediated_decay	uc031tjs.1	nonsynonymous SNV	exon4	c.A690T	p.K230N	KPYKCTWDGCSWKFARSDELTRHFR	KPYKCTWDGCSWNFARSDELTRHFR	4.0	4.0	-	-	4259_X:56310789-56310789 A>T_KPYKCTWDGCSWNFARSDELTRHFR
X:5811465-5811465 G>T	0.0	4259	COLON	-	-	-	-	NLGN4X	ENST00000381093,p.P635Q|ENST00000275857,p.P615Q|ENST00000381092,p.P615Q|ENST00000538097,p.P615Q|uc010ndj.3,p.P615Q|NM_181332,p.P615Q|NM_001282145,p.P615Q|uc010ndi.3,p.P652Q|ENST00000381095,p.P615Q|NM_001282146,p.P615Q|uc004crq.3,p.P615Q|uc004crp.3,p.P635Q|uc004crr.3,p.P615Q|uc010ndh.3,p.P615Q|NM_020742,p.P615Q	protein_coding, processed_transcript	uc010ndj.3	nonsynonymous SNV	exon7	c.C1844A	p.P615Q	IFQYVSTTTKVPPPDMTSFPYGTRR	IFQYVSTTTKVPQPDMTSFPYGTRR	4.0	5.0	-	-	4259_X:5811465-5811465 G>T_IFQYVSTTTKVPQPDMTSFPYGTRR
1:101005348-101005348 C>T	0.0	4259	COLON	-	-	-	-	GPR88	uc001dth.3,p.R276W|NM_022049,p.R276W|uc021oqq.1,p.R276W|ENST00000315033,p.R276W	protein_coding	uc021oqq.1	nonsynonymous SNV	exon1	c.C826T	p.R276W	QAQPLPPALHPRRAQRRLSGLSVLL	QAQPLPPALHPRWAQRRLSGLSVLL	1.0	8.0	-	-	4259_1:101005348-101005348 C>T_QAQPLPPALHPRWAQRRLSGLSVLL
3:195510203-195510203 T>A	0.0	4259	COLON	-	-	-	2	MUC4	ENST00000470451,p.T2750S|uc021xjp.1,p.T2750S|ENST00000478156,p.T2750S|ENST00000479406,p.T2750S|ENST00000475231,p.T2750S|ENST00000477086,p.T2750S|ENST00000463781,p.T2750S|ENST00000466475,p.T2750S|ENST00000477756,p.T2750S|ENST00000462323,p.T2750S|NM_018406,p.T2750S|ENST00000480843,p.T2750S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.A8248T	p.T2750S	LVTETSSVSTGDTTPLPVTDTSSAS	LVTETSSVSTGDSTPLPVTDTSSAS	5.0	3.0	unscreened	-	4259_3:195510203-195510203 T>A_LVTETSSVSTGDSTPLPVTDTSSAS
13:109562389-109562389 G>T	0.0	4259	COLON	-	-	-	-	MYO16	uc010agk.2,p.V606F|ENST00000457511,p.V96F|uc001vqu.1,p.V384F|ENST00000251041,p.V584F|uc001vqt.1,p.V584F|ENST00000356711,p.V584F|ENST00000357550,p.V584F|NM_001198950,p.V606F|uc010tjh.1,p.V96F|NM_015011,p.V584F	protein_coding, processed_transcript	uc010tjh.1	nonsynonymous SNV	exon4	c.G286T	p.V96F	RIYTYLLEKSRLVSQPLGQSNFLIF	RIYTYLLEKSRLFSQPLGQSNFLIF	2.0	5.0	-	-	4259_13:109562389-109562389 G>T_RIYTYLLEKSRLFSQPLGQSNFLIF
19:2230245-2230245 C>T	1.0	4259	COLON	-	-	-	-	PLEKHJ1	NM_001300836,p.V251I|ENST00000587394,p.V251I	retained_intron, protein_coding, processed_transcript	NM_001300836	nonsynonymous SNV	exon6	c.G751A	p.V251I	TGAARRGSRPGGVSENGVRRCQRLV	TGAARRGSRPGGISENGVRRCQRLV	10.0	8.0	unscreened	-	4259_19:2230245-2230245 C>T_TGAARRGSRPGGISENGVRRCQRLV
1:118693198-118693198 G>T	0.0	4259	COLON	-	-	-	-	SPAG17	ENST00000336338,p.P95T|NM_206996,p.P95T|uc001ehk.2,p.P95T	protein_coding, processed_transcript	uc001ehk.2	nonsynonymous SNV	exon3	c.C283A	p.P95T	LVGSASSKKAKKPVGGNAPLYYEVL	LVGSASSKKAKKTVGGNAPLYYEVL	4.0	5.0	-	-	4259_1:118693198-118693198 G>T_LVGSASSKKAKKTVGGNAPLYYEVL
15:74914482-74914482 C>T	1.0	4259	COLON	-	-	-	-	CLK3	ENST00000345005,p.R131C|uc002ayj.4,p.R131C|ENST00000352989,p.R131C|ENST00000566126,p.R131C|uc010uln.2,p.R279C|uc002ayg.4,p.R131C|NM_001130028,p.R279C|ENST00000564096,p.R131C|ENST00000395066,p.R279C|ENST00000568139,p.R165C|NM_003992,p.R131C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uln.2	nonsynonymous SNV	exon4	c.C835T	p.R279C	SSASSRSQQSSKRSSRSVEDDKEGH	SSASSRSQQSSKCSSRSVEDDKEGH	10.0	5.0	-	-	4259_15:74914482-74914482 C>T_SSASSRSQQSSKCSSRSVEDDKEGH
15:74914482-74914482 C>T	1.0	4259	COLON	-	-	-	-	CLK3	uc002ayk.4,p.R58C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ayk.4	nonsynonymous SNV	exon2	c.C172T	p.R58C	GRCMQRSQQSSKRSSRSVEDDKEGH	GRCMQRSQQSSKCSSRSVEDDKEGH	10.0	5.0	-	-	4259_15:74914482-74914482 C>T_GRCMQRSQQSSKCSSRSVEDDKEGH
4:145041643-145041643 C>A	0.0	4259	COLON	-	-	-	-	GYPA	NM_002099,p.D46Y	retained_intron, protein_coding, nonsense_mediated_decay	NM_002099	nonsynonymous SNV	exon2	c.G136T	p.D46Y	SVTKSYISSQTNDTHKRDTYAATPR	SVTKSYISSQTNYTHKRDTYAATPR	1.0	4.0	-	-	4259_4:145041643-145041643 C>A_SVTKSYISSQTNYTHKRDTYAATPR
X:7811288-7811288 C>G	0.0	4259	COLON	-	rs5934423	-	-	VCX	uc004crz.3,p.T15R|ENST00000381059,p.T15R|ENST00000341408,p.T15R|NM_013452,p.T15R	protein_coding	uc004crz.3	nonsynonymous SNV	exon2	c.C44G	p.T15R	PKPRASGPPAKATEAGKRKSSSQPS	PKPRASGPPAKAREAGKRKSSSQPS	4.0	2.0	unscreened	-	4259_X:7811288-7811288 C>G_PKPRASGPPAKAREAGKRKSSSQPS
3:169496830-169496832 AAG>-	0.0	4259	COLON	-	-	ID=COSM1420497;OCCURENCE=1(large_intestine)	-	MYNN	uc010hwo.3,p.181_181del|uc003fft.3,p.181_181del|uc003ffu.3,p.181_181del|uc011bpm.2,p.67_67del|NM_001185119,p.181_181del|ENST00000544106,p.181_181del|NM_001185118,p.181_181del|ENST00000349841,p.181_181del|NM_018657,p.181_181del|ENST00000356716,p.181_181del|ENST00000392733,p.181_181del	protein_coding	uc011bpm.2	nonframeshift deletion	exon3	c.199_201del	p.67_67del	QGALAKKSSQTKKKKKAFNSPKTGQ	QGALAKKSSQTKKKKAFNSPKTGQN	8.0	3.0	unscreened	-	4259_3:169496830-169496832 AAG>-_QGALAKKSSQTKKKKAFNSPKTGQN
X:139586496-139586496 C>T	0.0	4259	COLON	-	-	-	-	SOX3	uc004fbd.1,p.A244T|ENST00000370536,p.A244T|NM_005634,p.A244T	protein_coding	uc004fbd.1	nonsynonymous SNV	exon1	c.G730A	p.A244T	PGAAAAAAAAAAAAAAASSPVGVGQ	PGAAAAAAAAAATAAAASSPVGVGQ	1.0	4.0	-	-	4259_X:139586496-139586496 C>T_PGAAAAAAAAAATAAAASSPVGVGQ
1:57528596-57528596 C>A	0.0	4259	COLON	-	-	-	-	DAB1	uc009vzw.1,p.K193N|ENST00000420954,p.K193N|ENST00000414851,p.K193N|uc001cyq.1,p.K193N	protein_coding, processed_transcript	uc009vzw.1	nonsynonymous SNV	exon7	c.G579T	p.K193N	EQAVYQVPTSQKKEGVYDVPKSQPV	EQAVYQVPTSQKNEGVYDVPKSQPV	7.0	7.0	unscreened	-	4259_1:57528596-57528596 C>A_EQAVYQVPTSQKNEGVYDVPKSQPV
9:43625701-43625701 G>T	0.0	4259	COLON	-	-	-	-	SPATA31A6	uc011lrb.2,p.P996T|ENST00000332857,p.P996T|NM_001145196,p.P996T	protein_coding, processed_transcript	uc011lrb.2	nonsynonymous SNV	exon4	c.C2986A	p.P996T	SSLHPRVSVSQDPRKLCLMEEVVSE	SSLHPRVSVSQDTRKLCLMEEVVSE	1.0	3.0	-	-	4259_9:43625701-43625701 G>T_SSLHPRVSVSQDTRKLCLMEEVVSE
12:119942914-119942914 G>A	0.0	4259	COLON	-	-	ID=COSM202207;OCCURENCE=2(large_intestine),1(prostate)	-	CCDC60	NM_178499,p.R230H|ENST00000327554,p.R230H|uc001txe.3,p.R230H	protein_coding, processed_transcript	uc001txe.3	nonsynonymous SNV	exon7	c.G689A	p.R230H	KKFKIPTMRVTNRKPSRRGSTLSLS	KKFKIPTMRVTNHKPSRRGSTLSLS	6.0	6.0	-	-	4259_12:119942914-119942914 G>A_KKFKIPTMRVTNHKPSRRGSTLSLS
X:105881057-105881057 G>T	0.0	4259	COLON	-	-	-	-	CXorf57	uc004emi.4,p.K492N|ENST00000461251,p.K492N|ENST00000372548,p.K492N|NM_018015,p.K492N|uc004emh.2,p.K492N	protein_coding, processed_transcript, nonsense_mediated_decay	uc004emi.4	nonsynonymous SNV	exon8	c.G1476T	p.K492N	AKVKNFIQWIRTKSDSGEQKNMVIG	AKVKNFIQWIRTNSDSGEQKNMVIG	6.0	2.0	-	-	4259_X:105881057-105881057 G>T_AKVKNFIQWIRTNSDSGEQKNMVIG
1:57528597-57528597 T>C	0.0	4259	COLON	-	-	-	-	DAB1	NM_021080,p.K228R|ENST00000371236,p.K228R|ENST00000371231,p.K228R|uc009vzx.1,p.K228R|ENST00000371234,p.K228R|uc001cys.1,p.K228R	protein_coding, processed_transcript	uc009vzx.1	nonsynonymous SNV	exon9	c.A683G	p.K228R	EENIYQVPTSQKKEGVYDVPKSQPV	EENIYQVPTSQKREGVYDVPKSQPV	7.0	7.0	unscreened	-	4259_1:57528597-57528597 T>C_EENIYQVPTSQKREGVYDVPKSQPV
1:57528597-57528597 T>C	0.0	4259	COLON	-	-	-	-	DAB1	uc001cyq.1,p.K193R|uc009vzw.1,p.K193R|ENST00000420954,p.K193R|ENST00000414851,p.K193R	protein_coding, processed_transcript	uc009vzw.1	nonsynonymous SNV	exon7	c.A578G	p.K193R	EQAVYQVPTSQKKEGVYDVPKSQPV	EQAVYQVPTSQKREGVYDVPKSQPV	7.0	7.0	unscreened	-	4259_1:57528597-57528597 T>C_EQAVYQVPTSQKREGVYDVPKSQPV
1:57528596-57528596 C>A	0.0	4259	COLON	-	-	-	-	DAB1	uc001cys.1,p.K228N|ENST00000371234,p.K228N|NM_021080,p.K228N|ENST00000371236,p.K228N|uc009vzx.1,p.K228N|ENST00000371231,p.K228N	protein_coding, processed_transcript	uc009vzx.1	nonsynonymous SNV	exon9	c.G684T	p.K228N	EENIYQVPTSQKKEGVYDVPKSQPV	EENIYQVPTSQKNEGVYDVPKSQPV	7.0	7.0	unscreened	-	4259_1:57528596-57528596 C>A_EENIYQVPTSQKNEGVYDVPKSQPV
1:57528596-57528596 C>A	0.0	4259	COLON	-	-	-	-	DAB1	uc001cyt.1,p.K228N	protein_coding, processed_transcript	uc001cyt.1	nonsynonymous SNV	exon15	c.G684T	p.K228N	EENIYQVPTSQKKEGVYDVPKSQPA	EENIYQVPTSQKNEGVYDVPKSQPA	7.0	7.0	-	-	4259_1:57528596-57528596 C>A_EENIYQVPTSQKNEGVYDVPKSQPA
1:57528597-57528597 T>C	0.0	4259	COLON	-	-	-	-	DAB1	uc001cyt.1,p.K228R	protein_coding, processed_transcript	uc001cyt.1	nonsynonymous SNV	exon15	c.A683G	p.K228R	EENIYQVPTSQKKEGVYDVPKSQPA	EENIYQVPTSQKREGVYDVPKSQPA	7.0	7.0	unscreened	-	4259_1:57528597-57528597 T>C_EENIYQVPTSQKREGVYDVPKSQPA
14:29261308-29261308 A>C	0.0	4259	COLON	-	rs34203558	-	-	LINC01551	uc001wqf.3,p.K115N|ENST00000399387,p.K115N	protein_coding, processed_transcript	uc001wqf.3	nonsynonymous SNV	exon3	c.A345C	p.K115N	HDVSPEKVTSALKKTNKQTTTINNF	HDVSPEKVTSALNKTNKQTTTINNF	5.0	3.0	unscreened	-	4259_14:29261308-29261308 A>C_HDVSPEKVTSALNKTNKQTTTINNF
10:46967469-46967469 C>T	0.0	4259	COLON	-	-	ID=COSM1347897,COSM1347898,COSM1347896;OCCURENCE=1(large_intestine)	-	SYT15	ENST00000374323,p.R256H|ENST00000503753,p.R203H|ENST00000512997,p.R87H|uc001jeb.3,p.R81H|uc001jea.3,p.R203H|ENST00000374325,p.R203H|NM_031912,p.R203H|ENST00000374321,p.R203H|NM_181519,p.R203H|uc001jdz.2,p.R203H	protein_coding, processed_transcript	uc001jeb.3	nonsynonymous SNV	exon3	c.G242A	p.R81H	PDERRFLQSKTKRKTSNPQFDEHFI	PDERRFLQSKTKHKTSNPQFDEHFI	6.0	5.0	-	-	4259_10:46967469-46967469 C>T_PDERRFLQSKTKHKTSNPQFDEHFI
1:57528597-57528597 T>C	0.0	4259	COLON	-	-	-	-	DAB1	ENST00000439789,p.K109R|ENST00000371232,p.K109R|uc001cyr.1,p.K109R	protein_coding, processed_transcript	uc001cyr.1	nonsynonymous SNV	exon4	c.A326G	p.K109R	FDEKTGVPTSQKKEGVYDVPKSQPV	FDEKTGVPTSQKREGVYDVPKSQPV	7.0	7.0	unscreened	-	4259_1:57528597-57528597 T>C_FDEKTGVPTSQKREGVYDVPKSQPV
1:57528596-57528596 C>A	0.0	4259	COLON	-	-	-	-	DAB1	uc001cyr.1,p.K109N|ENST00000439789,p.K109N|ENST00000371232,p.K109N	protein_coding, processed_transcript	uc001cyr.1	nonsynonymous SNV	exon4	c.G327T	p.K109N	FDEKTGVPTSQKKEGVYDVPKSQPV	FDEKTGVPTSQKNEGVYDVPKSQPV	7.0	7.0	unscreened	-	4259_1:57528596-57528596 C>A_FDEKTGVPTSQKNEGVYDVPKSQPV
5:178552033-178552033 G>A	0.0	4259	COLON	-	-	-	-	ADAMTS2	NM_014244,p.R967C|ENST00000251582,p.R967C|uc003mjw.3,p.R967C	retained_intron, protein_coding	uc003mjw.3	nonsynonymous SNV	exon19	c.C2899T	p.R967C	HAKHCNDARPESRRACSRELCPGRW	HAKHCNDARPESCRACSRELCPGRW	6.0	6.0	-	-	4259_5:178552033-178552033 G>A_HAKHCNDARPESCRACSRELCPGRW
1:91859811-91859811 A>T	0.0	4259	COLON	-	-	-	-	HFM1	NM_001017975,p.N111K	retained_intron, protein_coding, processed_transcript	NM_001017975	nonsynonymous SNV	exon4	c.T333A	p.N111K	YEQDDLNLEGVGNNDLSHVAGKLTY	YEQDDLNLEGVGKNDLSHVAGKLTY	2.0	7.0	-	-	4259_1:91859811-91859811 A>T_YEQDDLNLEGVGKNDLSHVAGKLTY
1:91859811-91859811 A>T	0.0	4259	COLON	-	-	-	-	HFM1	ENST00000455133,p.N111K|uc001doc.1,p.N111K|uc001doa.4,p.N111K|ENST00000427444,p.N69K|ENST00000370425,p.N111K	retained_intron, protein_coding, processed_transcript	uc001doc.1	nonsynonymous SNV	exon3	c.T333A	p.N111K	YEQDDLNLEGVGNNDLSHIAGKLTY	YEQDDLNLEGVGKNDLSHIAGKLTY	2.0	7.0	unscreened	-	4259_1:91859811-91859811 A>T_YEQDDLNLEGVGKNDLSHIAGKLTY
11:78380497-78380497 C>T	0.0	4259	COLON	-	-	-	-	TENM4	ENST00000278550,p.R2298Q|uc001ozl.4,p.R2298Q|NM_001098816,p.R2298Q|ENST00000530738,p.R762Q|uc001ozk.4,p.R523Q	retained_intron, protein_coding, processed_transcript	uc001ozl.4	nonsynonymous SNV	exon32	c.G6893A	p.R2298Q	SWSVRYRYDGLGRRVSSKSSHSHHL	SWSVRYRYDGLGQRVSSKSSHSHHL	4.0	6.0	-	-	4259_11:78380497-78380497 C>T_SWSVRYRYDGLGQRVSSKSSHSHHL
10:101089928-101089928 T>A	0.0	4259	COLON	-	-	-	-	CNNM1	ENST00000446890,p.S191T|uc010qpi.2,p.S262T|uc009xwf.3,p.S262T|NM_020348,p.S262T|ENST00000370528,p.S191T|ENST00000356713,p.S262T|uc001kpp.4,p.S262T|uc009xwe.3,p.S262T	protein_coding, processed_transcript	uc010qpi.2	nonsynonymous SNV	exon1	c.T784A	p.S262T	DPVELRVLRNSGSAAEQEQARRVQA	DPVELRVLRNSGTAAEQEQARRVQA	2.0	4.0	-	-	4259_10:101089928-101089928 T>A_DPVELRVLRNSGTAAEQEQARRVQA
7:8272343-8272347 CTTAT>-	1.0	4259	COLON	-	-	-	-	ICA1	ENST00000401396,p.D7fs|ENST00000317367,p.D7fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000401396	frameshift deletion	exon3	c.20_24del	p.D7fs	MDRYAQDKSVVNKMQQKYW	MDRYAQVSCK	10.0	4.0	unscreened	-	4259_7:8272343-8272347 CTTAT>-_MDRYAQVSCK
6:154489119-154489119 C>T	0.0	4259	COLON	-	-	-	-	IPCEF1	ENST00000367220,p.R347Q|NM_015553,p.R346Q|NM_001130700,p.R347Q|uc003qpw.3,p.R347Q|uc003qpx.3,p.R346Q|uc010kjh.3,p.R347Q|NM_001130699,p.R347Q|ENST00000519344,p.R318Q|ENST00000265198,p.R346Q|uc003qpv.3,p.R217Q|uc021zhc.1,p.R808Q|ENST00000422970,p.R347Q	retained_intron, protein_coding, processed_transcript	uc021zhc.1	nonsynonymous SNV	exon21	c.G2423A	p.R808Q	STKKELRKSFVKRCKNPSINEKLHK	STKKELRKSFVKQCKNPSINEKLHK	4.0	6.0	-	-	4259_6:154489119-154489119 C>T_STKKELRKSFVKQCKNPSINEKLHK
19:38899502-38899504 AAG>-	0.0	4259	COLON	-	-	ID=COSM1318312;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(NS),1(large_intestine)	-	FAM98C	uc002oin.1,p.344_344del|NM_174905,p.344_344del|ENST00000343358,p.262_262del|uc002oio.1,p.262_262del|ENST00000252530,p.344_344del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002oio.1	nonframeshift deletion	exon6	c.784_786del	p.262_262del	RREDGGPQCWGRKKKKKK	RREDGGPQCWGRKKKKK	9.0	1.0	unscreened	-	4259_19:38899502-38899504 AAG>-_RREDGGPQCWGRKKKKK
6:4116148-4116148 T>A	1.0	4266	COLON	-	-	-	-	ECI2	uc003mwf.3,p.N382I|uc003mwd.3,p.N352I|NM_001166010,p.N352I|uc003mwe.3,p.N229I|ENST00000361538,p.N352I|NM_006117,p.N352I|uc021yku.1,p.N352I|ENST00000465828,p.N352I|uc003mwc.3,p.N210I|ENST00000380118,p.N382I|ENST00000413766,p.N215I|ENST00000380125,p.N352I|NM_206836,p.N382I	retained_intron, protein_coding, nonsense_mediated_decay	uc021yku.1	nonsynonymous SNV	exon10	c.A1055T	p.N352I	VLQGRWLSDECTNAVVNFLSRKSKL	VLQGRWLSDECTIAVVNFLSRKSKL	9.0	8.0	CD8	-	4266_6:4116148-4116148 T>A_VLQGRWLSDECTIAVVNFLSRKSKL
17:7577539-7577539 G>A	1.0	4266	COLON	-	-	ID=COSM3388183,COSM120007,COSM120006,COSM10656,COSM120005,COSM1640831;OCCURENCE=61(breast),26(skin),9(biliary_tract),144(large_intestine),4(prostate),4(liver),2(kidney),11(pancreas),21(urinary_tract),31(ovary),4(soft_tissue),20(endometrium),20(lung),1(penis),4(thyroid),27(haematopoietic_and_lymphoid_tissue),1(pleura),1(cervix),28(stomach),33(central_nervous_system),45(oesophagus),1(vulva),1(bone),21(upper_aerodigestive_tract),1(NS)	1	TP53	NM_001126117,p.R116W|ENST00000413465,p.R248W|NM_001276760,p.R209W|NM_000546,p.R248W|ENST00000269305,p.R248W|ENST00000509690,p.R116W|uc002gin.3,p.R155W|NM_001126114,p.R248W|uc002gij.3,p.R209W|NM_001126116,p.R116W|NM_001276698,p.R89W|ENST00000455263,p.R248W|ENST00000420246,p.R248W|uc002gih.3,p.R248W|NM_001126115,p.R116W|uc002gii.2,p.R89W|NM_001276697,p.R89W|ENST00000445888,p.R248W|uc031qyq.1,p.R209W|uc002gig.1,p.R248W|NM_001276695,p.R209W|NM_001126112,p.R248W|NM_001126118,p.R209W|ENST00000359597,p.R248W|NM_001276761,p.R209W|NM_001126113,p.R248W|uc010cng.2,p.R89W|uc010cnf.2,p.R89W|NM_001276696,p.R209W|uc002gio.3,p.R116W|NM_001276699,p.R89W	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon6	c.C625T	p.R209W	YMCNSSCMGGMNRRPILTIITLEDS	YMCNSSCMGGMNWRPILTIITLEDS	10.0	10.0	CD8	-	4266_17:7577539-7577539 G>A_YMCNSSCMGGMNWRPILTIITLEDS
2:187366067-187366067 T>G	1.0	4266	COLON	-	-	-	-	ZC3H15	ENST00000337859,p.C119W|uc002upo.3,p.C119W|NM_018471,p.C119W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upo.3	nonsynonymous SNV	exon4	c.T357G	p.C119W	FFKQGQCTKGDKCKFSHDLTLERKC	FFKQGQCTKGDKWKFSHDLTLERKC	9.0	6.0	-	-	4266_2:187366067-187366067 T>G_FFKQGQCTKGDKWKFSHDLTLERKC
5:1057736-1057736 G>A	1.0	4266	COLON	0.0005	-	ID=COSM2990237;OCCURENCE=1(central_nervous_system)	-	SLC12A7	ENST00000264930,p.A959V|uc003jbu.3,p.A959V|NM_006598,p.A959V	retained_intron, protein_coding	uc003jbu.3	nonsynonymous SNV	exon22	c.C2876T	p.A959V	EREAQLIHDRNTASHTAAAARTQAP	EREAQLIHDRNTVSHTAAAARTQAP	8.0	9.0	-	-	4266_5:1057736-1057736 G>A_EREAQLIHDRNTVSHTAAAARTQAP
7:135080487-135080487 T>C	1.0	4266	COLON	-	-	-	-	CNOT4	ENST00000414802,p.H343R|ENST00000361528,p.H340R|uc003vsv.2,p.H343R|uc003vss.3,p.H340R|NM_001190847,p.H343R|uc003vst.3,p.H343R|NM_001190848,p.H343R|ENST00000541284,p.H343R|ENST00000428680,p.H340R|NM_001190850,p.H343R|NM_001190849,p.H340R|ENST00000451834,p.H340R|ENST00000423368,p.H343R|uc011kpy.2,p.H343R|ENST00000356162,p.H343R|NM_013316,p.H340R|NM_001008225,p.H340R|ENST00000315544,p.H343R|uc003vsu.2,p.H340R|uc011kpz.2,p.H340R	protein_coding, processed_transcript	uc011kpz.2	nonsynonymous SNV	exon9	c.A1019G	p.H340R	TESQSLFSDNFRHPNPIPSGLPPFP	TESQSLFSDNFRRPNPIPSGLPPFP	7.0	3.0	-	-	4266_7:135080487-135080487 T>C_TESQSLFSDNFRRPNPIPSGLPPFP
17:46627893-46627902 CGGCAGGGGG>-	1.0	4266	COLON	-	-	-	-	HOXB3	uc002inn.3,p.P364fs|ENST00000460160,p.P232fs|ENST00000470495,p.P364fs|ENST00000489475,p.P291fs|ENST00000498678,p.P364fs|ENST00000490677,p.P230fs|ENST00000485909,p.P232fs|ENST00000311626,p.P364fs|uc002ino.3,p.P364fs|uc010dbg.3,p.P364fs|uc010wlk.2,p.P232fs|uc010wlm.2,p.P291fs|NM_002146,p.P364fs|ENST00000472863,p.P291fs|ENST00000476342,p.P364fs|uc010wll.2,p.P291fs|uc010dbf.3,p.P364fs	retained_intron, protein_coding, processed_transcript	uc010wlm.2	frameshift deletion	exon4	c.871_880del	p.P291fs	YVGGGGYADPLPPPAGPSLYGLNHL	YVGGGGYADPLPAPPSMASTTFPITLPGTWTTTGRPLWRPASTTDPANPTPPTQTSPLTTRLLLRVESKKRPN	8.0	5.0	-	-	4266_17:46627893-46627902 CGGCAGGGGG>-_YVGGGGYADPLPAPPSMASTTFPITLPGTWTTTGRPLWRPASTTDPANPTPPTQTSPLTTRLLLRVESKKRPN
16:27784457-27784457 C>A	1.0	4266	COLON	-	-	-	-	KIAA0556	uc002dow.3,p.D1412E|ENST00000261588,p.D1412E|NM_015202,p.D1412E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dow.3	nonsynonymous SNV	exon23	c.C4236A	p.D1412E	FIFQFQLLTSWGDPYYIGLTGLELY	FIFQFQLLTSWGEPYYIGLTGLELY	8.0	1.0	-	-	4266_16:27784457-27784457 C>A_FIFQFQLLTSWGEPYYIGLTGLELY
3:48698992-48698992 C>T	1.0	4266	COLON	-	-	-	-	CELSR3	NM_001407,p.R359H|ENST00000164024,p.R359H|uc003cuf.1,p.R429H|ENST00000544264,p.R359H|uc003cul.3,p.R359H	retained_intron, protein_coding	uc003cul.3	nonsynonymous SNV	exon1	c.G1076A	p.R359H	VVAQDPDAGEAGRLVYSLAALMNSR	VVAQDPDAGEAGHLVYSLAALMNSR	5.0	7.0	-	-	4266_3:48698992-48698992 C>T_VVAQDPDAGEAGHLVYSLAALMNSR
8:6566200-6566200 C>T	1.0	4266	COLON	-	-	-	-	AGPAT5	uc003wqo.3,p.S4F|ENST00000285518,p.S4F|ENST00000523234,p.S4F|NM_018361,p.S4F|uc011kwm.2,p.S4F	protein_coding, processed_transcript, nonsense_mediated_decay	uc011kwm.2	nonsynonymous SNV	exon1	c.C11T	p.S4F	MLLSLVLHTYSMRYLL	MLLFLVLHTYSMRYLL	8.0	10.0	-	-	4266_8:6566200-6566200 C>T_MLLFLVLHTYSMRYLL
2:208434965-208434965 C>A	1.0	4266	COLON	-	-	-	1	CREB1	ENST00000374397,p.S156Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000374397	nonsynonymous SNV	exon6	c.C467A	p.S156Y	DAPGVPRIEEEKSEEETSALPTQPA	DAPGVPRIEEEKYEEETSALPTQPA	9.0	8.0	-	-	4266_2:208434965-208434965 C>A_DAPGVPRIEEEKYEEETSALPTQPA
7:128489484-128489484 C>T	1.0	4266	COLON	-	-	-	-	FLNC	uc003voa.4,p.T1684M|uc003vnz.4,p.T1684M|NM_001127487,p.T1684M|ENST00000346177,p.T1684M|NM_001458,p.T1684M|ENST00000325888,p.T1684M	retained_intron, protein_coding	uc003voa.4	nonsynonymous SNV	exon30	c.C5051T	p.T1684M	AAGEGKVTCTVSTPDGAELDVDVVE	AAGEGKVTCTVSMPDGAELDVDVVE	7.0	10.0	-	-	4266_7:128489484-128489484 C>T_AAGEGKVTCTVSMPDGAELDVDVVE
10:5790883-5790883 C>G	1.0	4266	COLON	-	-	-	-	FAM208B	uc001iik.3,p.D677E|NM_017782,p.D1833E|ENST00000328090,p.D1833E|uc001iij.3,p.D1833E	retained_intron, protein_coding, processed_transcript	uc001iik.3	nonsynonymous SNV	exon2	c.C2031G	p.D677E	DMHYELSGDSDLDLLGDCRNPRLDL	DMHYELSGDSDLELLGDCRNPRLDL	7.0	4.0	-	-	4266_10:5790883-5790883 C>G_DMHYELSGDSDLELLGDCRNPRLDL
2:208434965-208434965 C>A	1.0	4266	COLON	-	-	-	1	CREB1	ENST00000539789,p.S116Y|ENST00000421139,p.S102Y|ENST00000430624,p.S142Y|ENST00000353267,p.S142Y|uc002vcd.3,p.S142Y|uc002vcc.3,p.S156Y|NM_004379,p.S142Y|ENST00000457101,p.S116Y|NM_134442,p.S156Y|ENST00000536726,p.S142Y|ENST00000432329,p.S156Y|ENST00000445803,p.S156Y|uc010ziz.1,p.S140Y|ENST00000448277,p.S102Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ziz.1	nonsynonymous SNV	exon5	c.C419A	p.S140Y	DAPGVPRIEEEKSEEETSAPAITTV	DAPGVPRIEEEKYEEETSAPAITTV	9.0	8.0	-	-	4266_2:208434965-208434965 C>A_DAPGVPRIEEEKYEEETSAPAITTV
5:137846830-137846830 T>C	1.0	4266	COLON	-	-	-	-	ETF1	NM_004730,p.T308A|NM_001256302,p.T275A|NM_001291974,p.T275A|ENST00000499810,p.T275A|NM_001291975,p.T275A|NM_001282185,p.T294A|uc003ldd.5,p.T275A|ENST00000503014,p.T294A|uc011cyv.3,p.T294A|ENST00000360541,p.T308A|uc003ldc.5,p.T308A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cyv.3	nonsynonymous SNV	exon7	c.A880G	p.T294A	QDTGKYCFGVEDTLKALEMGAVEIL	QDTGKYCFGVEDALKALEMGAVEIL	9.0	5.0	-	-	4266_5:137846830-137846830 T>C_QDTGKYCFGVEDALKALEMGAVEIL
3:195512677-195512677 C>A	1.0	4266	COLON	-	-	-	2	MUC4	ENST00000477086,p.S1925I|ENST00000475231,p.S1925I|ENST00000466475,p.S1925I|NM_018406,p.S1925I|ENST00000480843,p.S1925I|ENST00000463781,p.S1925I|ENST00000478156,p.S1925I|ENST00000462323,p.S1925I|ENST00000477756,p.S1925I|ENST00000470451,p.S1925I|ENST00000479406,p.S1925I|uc021xjp.1,p.S1925I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G5774T	p.S1925I	VSTGHATSLPVTSLSSASTGDTTPL	VSTGHATSLPVTILSSASTGDTTPL	7.0	1.0	unscreened	-	4266_3:195512677-195512677 C>A_VSTGHATSLPVTILSSASTGDTTPL
7:905618-905618 G>A	1.0	4266	COLON	-	-	-	-	SUN1	ENST00000425407,p.E549K|NM_025154,p.E549K|ENST00000456758,p.E821K|uc021zym.1,p.E632K|uc003sjk.3,p.E271K|uc003sji.3,p.E470K|ENST00000389574,p.E549K|uc003sjg.3,p.E537K|ENST00000413514,p.E430K|uc011jvr.2,p.E430K|NM_001130965,p.E632K|ENST00000429178,p.E557K|uc011jvq.2,p.E529K|ENST00000405266,p.E669K|uc003sjf.3,p.E549K|ENST00000401592,p.E632K|NM_001171944,p.E529K|ENST00000452783,p.E529K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zym.1	nonsynonymous SNV	exon16	c.G1894A	p.E632K	SGGGSILSTRCSETYETKTALMSLF	SGGGSILSTRCSKTYETKTALMSLF	10.0	9.0	-	-	4266_7:905618-905618 G>A_SGGGSILSTRCSKTYETKTALMSLF
7:82580731-82580731 A>G	1.0	4266	COLON	-	-	-	-	PCLO	uc010lec.3,p.I23T|ENST00000423517,p.I3058T|ENST00000333891,p.I3058T|NM_014510,p.I3058T|NM_033026,p.I3058T|uc003uhv.2,p.I3058T|uc003uhx.2,p.I3058T	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lec.3	nonsynonymous SNV	exon1	c.T68C	p.I23T	YPETRQVISGAGISTPQYSTARMTP	YPETRQVISGAGTSTPQYSTARMTP	6.0	2.0	-	-	4266_7:82580731-82580731 A>G_YPETRQVISGAGTSTPQYSTARMTP
10:74104724-74104724 ->CTGTTCTG	1.0	4266	COLON	-	-	-	-	DNAJB12	ENST00000338820,p.V133fs|uc001jta.2,p.V133fs|NM_017626,p.V133fs|uc001jsz.2,p.V133fs|NM_001002762,p.V133fs|ENST00000444643,p.V99fs|ENST00000394903,p.V133fs|uc010qjv.1,p.V133fs	retained_intron, protein_coding, processed_transcript	uc010qjv.1	frameshift insertion	exon2	c.396_397insCAGAACAG	p.V133fs	GGESTKGYTAEQVAAVKRVKQCKDY	GGESTKGYTAEQQNRLQL	6.0	8.0	-	-	4266_10:74104724-74104724 ->CTGTTCTG_GGESTKGYTAEQQNRLQL
20:16360725-16360725 C>T	1.0	4266	COLON	-	-	ID=COSM1410505,COSM1410504;OCCURENCE=1(large_intestine)	-	KIF16B	uc010gch.2,p.R641H|NM_001199866,p.R641H|ENST00000354981,p.R641H|NM_024704,p.R641H|uc002wpe.1,p.R23H|uc002wpf.1,p.R23H|uc010gci.2,p.R641H|NM_001199865,p.R641H|ENST00000355755,p.R641H|uc010gcj.2,p.R652H|uc002wpg.2,p.R641H|ENST00000408042,p.R641H	protein_coding	uc010gcj.2	nonsynonymous SNV	exon20	c.G1955A	p.R652H	ELERMQQEVETQRKETEIVQLQIRK	ELERMQQEVETQHKETEIVQLQIRK	7.0	4.0	-	-	4266_20:16360725-16360725 C>T_ELERMQQEVETQHKETEIVQLQIRK
5:175815946-175815946 G>C	1.0	4266	COLON	-	-	-	-	HIGD2A	ENST00000274787,p.K42N|NM_138820,p.K42N|uc003meg.3,p.K42N	protein_coding	uc003meg.3	nonsynonymous SNV	exon1	c.G126C	p.K42N	RNPESFKEKFVRKTRENPVVPIGCL	RNPESFKEKFVRNTRENPVVPIGCL	10.0	2.0	-	-	4266_5:175815946-175815946 G>C_RNPESFKEKFVRNTRENPVVPIGCL
5:112175761-112175761 T>-	1.0	4266	COLON	-	-	ID=COSM19623;OCCURENCE=2(large_intestine)	1	APC	ENST00000508376,p.H1490fs|NM_001127511,p.H1472fs|uc003kpy.4,p.H1490fs|ENST00000457016,p.H1490fs|uc010jca.3,p.H790fs|ENST00000257430,p.H1490fs|NM_001127510,p.H1490fs|NM_000038,p.H1490fs|uc010jbz.3,p.H1207fs|uc011cvt.2,p.H1472fs|uc003kpz.4,p.H1490fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cvt.2	frameshift deletion	exon14	c.4416delT	p.H1472fs	RVQVLPDADTLLHFATESTPDGFSC	RVQVLPDADTLLHLPRKVLQMDFLVHPA	8.0	9.0	unscreened	-	4266_5:112175761-112175761 T>-_RVQVLPDADTLLHLPRKVLQMDFLVHPA
4:153247289-153247289 G>A	1.0	4266	COLON	-	-	ID=COSM108571,COSM74637,COSM1154290,COSM22975,COSM108572;OCCURENCE=1(lung),30(haematopoietic_and_lymphoid_tissue),4(skin),21(large_intestine),1(biliary_tract),1(pancreas),1(ovary),6(endometrium)	1	FBXW7	uc003imt.3,p.R505C|NM_033632,p.R505C|NM_001013415,p.R387C|uc011cii.2,p.R505C|NM_018315,p.R425C|ENST00000393956,p.R329C|uc003imr.3,p.R387C|ENST00000281708,p.R505C|uc003imq.3,p.R425C|ENST00000263981,p.R425C|uc003ims.3,p.R505C|ENST00000603841,p.R505C|ENST00000296555,p.R387C|uc011cih.2,p.R329C|ENST00000603548,p.R505C	protein_coding	uc011cii.2	nonsynonymous SNV	exon11	c.C1513T	p.R505C	CLHVLMGHVAAVRCVQYDGRRVVSG	CLHVLMGHVAAVCCVQYDGRRVVSG	7.0	10.0	-	-	4266_4:153247289-153247289 G>A_CLHVLMGHVAAVCCVQYDGRRVVSG
9:109734438-109734438 G>A	1.0	4266	COLON	-	-	ID=COSM1103628;OCCURENCE=1(endometrium)	-	ZNF462	ENST00000441147,p.E1100K|uc004bdb.1,p.E102K|ENST00000277225,p.E2194K|ENST00000374686,p.E1137K|uc004bda.3,p.E2102K|uc010mto.3,p.E2103K|ENST00000542028,p.E151K|uc004bcz.3,p.E2194K|NM_021224,p.E2194K|ENST00000457913,p.E2254K|uc011lvz.2,p.E151K	protein_coding, processed_transcript	uc011lvz.2	nonsynonymous SNV	exon4	c.G451A	p.E151K	GTEQKTEAVLHCEFCEFSSGYIQSI	GTEQKTEAVLHCKFCEFSSGYIQSI	8.0	4.0	-	-	4266_9:109734438-109734438 G>A_GTEQKTEAVLHCKFCEFSSGYIQSI
5:148619397-148619397 C>T	1.0	4266	COLON	-	-	-	-	ABLIM3	uc003lqc.1,p.R384W|NM_001301015,p.R384W|ENST00000506113,p.R384W|NM_001301027,p.R330W|ENST00000309868,p.R384W|ENST00000326685,p.R322W|uc003lqa.1,p.R330W|NM_001301028,p.R322W|uc003lqe.1,p.R322W|NM_014945,p.R384W|uc003lqd.1,p.R322W|uc003lpz.1,p.R384W|ENST00000356541,p.R322W|uc003lqb.3,p.R322W|uc003lpy.2,p.R384W|uc003lqf.3,p.R322W|ENST00000508983,p.R384W|NM_001301018,p.R384W|ENST00000504238,p.R322W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003lqf.3	nonsynonymous SNV	exon10	c.C964T	p.R322W	SSPGYIDSPTYSRQGMSPTFSRSPH	SSPGYIDSPTYSWQGMSPTFSRSPH	7.0	1.0	-	-	4266_5:148619397-148619397 C>T_SSPGYIDSPTYSWQGMSPTFSRSPH
12:59272636-59272636 T>C	1.0	4266	COLON	-	-	-	1	LRIG3	uc009zqh.3,p.I625V|ENST00000320743,p.I685V|NM_153377,p.I685V|uc001sqr.4,p.I685V|ENST00000379141,p.I625V|NM_001136051,p.I625V	retained_intron, protein_coding, nonsense_mediated_decay	uc009zqh.3	nonsynonymous SNV	exon14	c.A1873G	p.I625V	VYSCTAQNSAGSISANATLTVLETP	VYSCTAQNSAGSVSANATLTVLETP	7.0	6.0	-	-	4266_12:59272636-59272636 T>C_VYSCTAQNSAGSVSANATLTVLETP
X:47104421-47104421 C>T	0.0	4266	COLON	-	-	-	-	USP11	NM_004651,p.P741L|ENST00000377107,p.P698L|uc004dhp.3,p.P741L|uc004dhq.3,p.P467L|ENST00000218348,p.P741L	retained_intron, protein_coding	uc004dhq.3	nonsynonymous SNV	exon14	c.C1400T	p.P467L	DRTTSPEEVHAQPYIAIDWEPEMKK	DRTTSPEEVHAQLYIAIDWEPEMKK	8.0	6.0	-	-	4266_X:47104421-47104421 C>T_DRTTSPEEVHAQLYIAIDWEPEMKK
8:142161782-142161782 C>T	1.0	4266	COLON	-	-	-	-	DENND3	ENST00000519811,p.T307M|ENST00000424248,p.T227M|ENST00000520986,p.T229M|ENST00000262585,p.T227M|uc010mep.3,p.T240M|uc003yvy.3,p.T227M|NM_014957,p.T227M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010mep.3	nonsynonymous SNV	exon6	c.C719T	p.T240M	RIVFFSSDWALLTLVTECFMAYLYP	RIVFFSSDWALLMLVTECFMAYLYP	7.0	10.0	-	-	4266_8:142161782-142161782 C>T_RIVFFSSDWALLMLVTECFMAYLYP
19:7532455-7532455 G>A	1.0	4266	COLON	-	-	-	-	ARHGEF18	uc002mgh.3,p.R776Q|uc002mgj.1,p.R571Q|uc010xjm.1,p.R776Q|NM_015318,p.R776Q|uc002mgi.3,p.R934Q|ENST00000319670,p.R776Q|ENST00000359920,p.R934Q|NM_001130955,p.R934Q	protein_coding	uc010xjm.1	nonsynonymous SNV	exon18	c.G2327A	p.R776Q	ERQRQAYQHDLERLREAQRAVERER	ERQRQAYQHDLEQLREAQRAVERER	7.0	10.0	-	-	4266_19:7532455-7532455 G>A_ERQRQAYQHDLEQLREAQRAVERER
4:109670467-109670467 G>A	1.0	4266	COLON	-	-	-	-	ETNPPL	NM_031279,p.P285L|uc011cfo.2,p.P227L|ENST00000411864,p.P279L|ENST00000296486,p.P285L|ENST00000510706,p.P245L|uc010imc.3,p.P279L|uc011cfm.2,p.P245L|uc011cfn.2,p.P212L|NM_001146590,p.P279L|uc003hzc.3,p.P285L|ENST00000512646,p.P227L|NM_001146627,p.P227L	retained_intron, protein_coding, nonsense_mediated_decay	uc011cfo.2	nonsynonymous SNV	exon7	c.C680T	p.P227L	IVTMGKPMGNGHPVACVVTTKEIAE	IVTMGKPMGNGHLVACVVTTKEIAE	2.0	5.0	-	-	4266_4:109670467-109670467 G>A_IVTMGKPMGNGHLVACVVTTKEIAE
18:47373626-47373626 C>T	1.0	4266	COLON	-	-	-	-	MYO5B	uc002ldz.3,p.R20H|uc002lea.2,p.R565H|ENST00000324581,p.R565H|ENST00000592688,p.R20H|uc002leb.2,p.R1450H|NM_001080467,p.R1450H|ENST00000285039,p.R1450H	retained_intron, protein_coding, processed_transcript	uc002leb.2	nonsynonymous SNV	exon33	c.G4349A	p.R1450H	EAAQALAQSERKRHELNRQVTVQRK	EAAQALAQSERKHHELNRQVTVQRK	10.0	3.0	-	-	4266_18:47373626-47373626 C>T_EAAQALAQSERKHHELNRQVTVQRK
14:105413454-105413454 G>C	1.0	4266	COLON	-	-	-	-	AHNAK2	NM_138420,p.S2778R|uc001ypx.2,p.S2678R|uc010axc.1,p.S2778R|ENST00000333244,p.S2778R	retained_intron, protein_coding	uc010axc.1	nonsynonymous SNV	exon7	c.C8334G	p.S2778R	EVTAPDVKMSLSSMEVDVQAPRAKL	EVTAPDVKMSLSRMEVDVQAPRAKL	9.0	9.0	-	-	4266_14:105413454-105413454 G>C_EVTAPDVKMSLSRMEVDVQAPRAKL
12:6701638-6701638 G>A	1.0	4266	COLON	-	-	ID=COSM942732;OCCURENCE=2(endometrium)	1	CHD4	uc001qpn.3,p.R950W|ENST00000544484,p.R954W|uc001qpp.3,p.R954W|NM_001273,p.R957W|NM_001297553,p.R950W|ENST00000544040,p.R950W|ENST00000309577,p.R957W|uc001qpo.3,p.R957W|ENST00000357008,p.R957W	retained_intron, protein_coding, processed_transcript	uc001qpp.3	nonsynonymous SNV	exon19	c.C2860T	p.R954W	KLHDMLGPHMLRRLKADVFKNMPSK	KLHDMLGPHMLRWLKADVFKNMPSK	10.0	10.0	-	-	4266_12:6701638-6701638 G>A_KLHDMLGPHMLRWLKADVFKNMPSK
3:55768899-55768899 G>A	0.0	4266	COLON	-	-	-	-	ERC2	uc003dht.1,p.A350V|ENST00000460849,p.A871V|ENST00000288221,p.A871V|uc021wzo.1,p.A871V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wzo.1	nonsynonymous SNV	exon14	c.C2612T	p.A871V	LLAAISEKDANIALLELSASKKKKT	LLAAISEKDANIVLLELSASKKKKT	4.0	1.0	-	-	4266_3:55768899-55768899 G>A_LLAAISEKDANIVLLELSASKKKKT
5:161569200-161569200 A>T	0.0	4266	COLON	-	-	-	-	GABRG2	uc003lyz.4,p.D267V|ENST00000356592,p.D267V|uc003lyy.4,p.D267V|NM_198903,p.D307V|uc010jjc.3,p.D307V|NM_198904,p.D267V|NM_000816,p.D267V|ENST00000393933,p.D172V|ENST00000522053,p.D172V|ENST00000361925,p.D267V|ENST00000414552,p.D307V|uc011dej.2,p.D172V	protein_coding, nonsense_mediated_decay	uc011dej.2	nonsynonymous SNV	exon8	c.A515T	p.D172V	TSGDYVVMSVYFDLSRRMGYFTIQT	TSGDYVVMSVYFVLSRRMGYFTIQT	1.0	2.0	-	-	4266_5:161569200-161569200 A>T_TSGDYVVMSVYFVLSRRMGYFTIQT
5:178552078-178552078 G>A	0.0	4266	COLON	-	-	ID=COSM1244358;OCCURENCE=1(oesophagus)	-	ADAMTS2	uc003mjw.3,p.R952C|NM_014244,p.R952C|ENST00000251582,p.R952C	retained_intron, protein_coding	uc003mjw.3	nonsynonymous SNV	exon19	c.C2854T	p.R952C	VRCIQPLHDNTTRSVHAKHCNDARP	VRCIQPLHDNTTCSVHAKHCNDARP	6.0	2.0	-	-	4266_5:178552078-178552078 G>A_VRCIQPLHDNTTCSVHAKHCNDARP
2:187373368-187373368 A>G	1.0	4266	COLON	-	-	-	-	ZC3H15	ENST00000337859,p.I397V|NM_018471,p.I397V|uc002upo.3,p.I397V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upo.3	nonsynonymous SNV	exon10	c.A1189G	p.I397V	EDNEREGTENGAIDAVPVDENLFTG	EDNEREGTENGAVDAVPVDENLFTG	9.0	1.0	-	-	4266_2:187373368-187373368 A>G_EDNEREGTENGAVDAVPVDENLFTG
5:140516967-140516967 C>T	0.0	4266	COLON	-	rs79316113	-	-	PCDHB5	uc003liq.3,p.R651C|NM_015669,p.R651C|ENST00000231134,p.R651C	protein_coding	uc003liq.3	nonsynonymous SNV	exon1	c.C1951T	p.R651C	LVVLVKDNGEPPRSATATLHVLLVD	LVVLVKDNGEPPCSATATLHVLLVD	6.0	9.0	unscreened	-	4266_5:140516967-140516967 C>T_LVVLVKDNGEPPCSATATLHVLLVD
9:98997810-98997810 C>T	1.0	4266	COLON	0.12	rs2066479	ID=COSM3764082;OCCURENCE=1(large_intestine)	-	HSD17B3	ENST00000375262,p.G239S|uc004awa.1,p.G289S|ENST00000375263,p.G289S|NM_000197,p.G289S|uc010msc.1,p.G239S	protein_coding, processed_transcript	uc010msc.1	nonsynonymous SNV	exon10	c.G715A	p.G239S	FLSLIPAWAFYSGAFQRLLLTHYVA	FLSLIPAWAFYSSAFQRLLLTHYVA	4.0	7.0	-	-	4266_9:98997810-98997810 C>T_FLSLIPAWAFYSSAFQRLLLTHYVA
8:144993982-144993982 G>A	1.0	4266	COLON	-	-	-	-	PLEC	NM_201380,p.T3473M|ENST00000398774,p.T3304M|ENST00000357649,p.T3340M|NM_201383,p.T3340M|ENST00000354589,p.T3336M|ENST00000354958,p.T3314M|NM_201378,p.T3322M|uc003zad.2,p.T3336M|uc003zaj.2,p.T3363M|NM_201382,p.T3336M|ENST00000356346,p.T3322M|ENST00000345136,p.T3336M|uc003zab.1,p.T3336M|ENST00000322810,p.T3473M|NM_201379,p.T3314M|uc003zah.2,p.T3322M|NM_201381,p.T3304M|ENST00000527096,p.T3359M|NM_000445,p.T3363M|NM_201384,p.T3336M|ENST00000436759,p.T3363M|uc003zae.1,p.T3304M|uc003zaf.1,p.T3473M|uc003zac.1,p.T3340M|uc003zag.1,p.T3314M	retained_intron, protein_coding	uc003zaj.2	nonsynonymous SNV	exon33	c.C10088T	p.T3363M	SRAQFEQLKDGKTTVKDLSELGSVR	SRAQFEQLKDGKMTVKDLSELGSVR	10.0	2.0	-	-	4266_8:144993982-144993982 G>A_SRAQFEQLKDGKMTVKDLSELGSVR
8:142437064-142437064 C>T	1.0	4266	COLON	-	-	-	-	PTP4A3	NM_032611,p.P75L|uc003ywh.1,p.P75L|ENST00000520105,p.P75L|ENST00000521578,p.P75L|ENST00000329397,p.P75L|uc003ywg.1,p.P75L|NM_007079,p.P75L|ENST00000349124,p.P75L	protein_coding	uc003ywh.1	nonsynonymous SNV	exon3	c.C224T	p.P75L	ITVVDWPFDDGAPPPGKVVEDWLSL	ITVVDWPFDDGALPPGKVVEDWLSL	9.0	10.0	-	-	4266_8:142437064-142437064 C>T_ITVVDWPFDDGALPPGKVVEDWLSL
11:65048551-65048551 A>G	1.0	4266	COLON	-	-	-	-	POLA2	NM_002689,p.H278R|ENST00000265465,p.H278R|ENST00000541089,p.H70R|uc010rod.1,p.H70R|uc001odj.3,p.H278R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rod.1	nonsynonymous SNV	exon7	c.A209G	p.H70R	NNKSVILEGDREHSSGAQIPVDLSE	NNKSVILEGDRERSSGAQIPVDLSE	8.0	6.0	-	-	4266_11:65048551-65048551 A>G_NNKSVILEGDRERSSGAQIPVDLSE
15:41814429-41814429 G>A	1.0	4266	COLON	-	-	-	-	RPAP1	ENST00000561603,p.A921V|NM_015540,p.A921V|ENST00000304330,p.A921V|uc001zod.3,p.A921V|ENST00000562303,p.A921V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zod.3	nonsynonymous SNV	exon20	c.C2762T	p.A921V	KGLCGQLAAILAAPGLQNYFLQCVA	KGLCGQLAAILAVPGLQNYFLQCVA	7.0	7.0	-	-	4266_15:41814429-41814429 G>A_KGLCGQLAAILAVPGLQNYFLQCVA
22:19168250-19168250 C>T	1.0	4266	COLON	-	-	-	1	CLTCL1	ENST00000353891,p.V1576M|uc021wle.1,p.V1633M|NM_007098,p.V1633M|NM_001835,p.V1576M|ENST00000263200,p.V1633M|uc011agt.2,p.V424M|ENST00000427926,p.V1633M|uc011agu.2,p.V330M|uc021wlf.1,p.V1576M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wlf.1	nonsynonymous SNV	exon30	c.G4726A	p.V1576M	KQEEHVTEPAPLVFDFDGHE	KQEEHVTEPAPLMFDFDGHE	5.0	10.0	-	-	4266_22:19168250-19168250 C>T_KQEEHVTEPAPLMFDFDGHE
7:6639621-6639621 G>T	1.0	4266	COLON	-	-	-	-	C7orf26	uc003sqo.1,p.V248L|NM_024067,p.V248L|ENST00000344417,p.V248L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003sqo.1	nonsynonymous SNV	exon4	c.G742T	p.V248L	ELTPLVGLIRWCVKAPLAYKRKKKP	ELTPLVGLIRWCLKAPLAYKRKKKP	6.0	6.0	-	-	4266_7:6639621-6639621 G>T_ELTPLVGLIRWCLKAPLAYKRKKKP
13:58209244-58209244 A>T	0.0	4266	COLON	-	-	-	-	PCDH17	uc010aec.1,p.Q855L|ENST00000377918,p.Q855L|NM_001040429,p.Q855L|ENST00000484979,p.Q855L|uc001vhq.1,p.Q855L	protein_coding, nonsense_mediated_decay	uc010aec.1	nonsynonymous SNV	exon1	c.A2564T	p.Q855L	ASETPATRMSIIQTDNFPAEPNYMG	ASETPATRMSIILTDNFPAEPNYMG	6.0	4.0	-	-	4266_13:58209244-58209244 A>T_ASETPATRMSIILTDNFPAEPNYMG
19:51645978-51645978 G>T	0.0	4266	COLON	-	-	-	-	SIGLEC7	ENST00000601682,p.A118S|ENST00000536156,p.A118S|uc002pvv.1,p.A118S|uc010eor.1,p.A118S|NM_001277201,p.A118S|NM_014385,p.A118S|uc002pvw.1,p.A118S|ENST00000600577,p.A118S|ENST00000317643,p.A118S|NM_016543,p.A118S|ENST00000305628,p.A118S	retained_intron, protein_coding, nonsense_mediated_decay	uc010eor.1	nonsynonymous SNV	exon1	c.G352T	p.A118S	CTLSIRDARMSDAGRYFFRMEKGNI	CTLSIRDARMSDSGRYFFRMEKGNI	5.0	3.0	-	-	4266_19:51645978-51645978 G>T_CTLSIRDARMSDSGRYFFRMEKGNI
15:36936509-36936509 C>A	1.0	4266	COLON	-	-	-	-	C15orf41	uc001zje.4,p.F44L|ENST00000437989,p.F44L|NM_001290233,p.F44L|ENST00000566621,p.F44L|ENST00000569302,p.F44L|NM_001130010,p.F44L	retained_intron, protein_coding, processed_transcript	uc001zje.4	nonsynonymous SNV	exon2	c.C132A	p.F44L	FPSQSQATLLSIFSQEYQKHIKRTH	FPSQSQATLLSILSQEYQKHIKRTH	5.0	2.0	-	-	4266_15:36936509-36936509 C>A_FPSQSQATLLSILSQEYQKHIKRTH
14:39648301-39648301 C>T	1.0	4266	COLON	-	-	-	-	PNN	uc001wuw.4,p.R169W|NM_002687,p.R169W|ENST00000216832,p.R169W	retained_intron, protein_coding, processed_transcript	uc001wuw.4	nonsynonymous SNV	exon7	c.C505T	p.R169W	KQESTVATERQKRRQEIEQKLEVQA	KQESTVATERQKWRQEIEQKLEVQA	9.0	3.0	-	-	4266_14:39648301-39648301 C>T_KQESTVATERQKWRQEIEQKLEVQA
X:48932932-48932932 C>T	0.0	4266	COLON	-	-	-	-	WDR45	NM_007075,p.R280H|ENST00000485908,p.R244H|uc004dmk.1,p.R279H|uc004dmp.1,p.R280H|ENST00000356463,p.R280H|NM_001029896,p.R279H|uc004dmj.1,p.R240H|ENST00000376368,p.R280H|ENST00000376372,p.R279H|uc004dml.1,p.R280H|uc004dmn.1,p.R170H|ENST00000396681,p.R265H|ENST00000322995,p.R290H	retained_intron, protein_coding, processed_transcript	uc004dmp.1	nonsynonymous SNV	exon11	c.G839A	p.R280H	KDTRLNRRSALARVGKVGPMIGQYV	KDTRLNRRSALAHVGKVGPMIGQYV	9.0	8.0	-	-	4266_X:48932932-48932932 C>T_KDTRLNRRSALAHVGKVGPMIGQYV
17:34340793-34340793 G>A	0.0	4266	COLON	-	-	-	-	CCL23	uc002hks.1,p.P98L|NM_145898,p.P81L|NM_005064,p.P98L|ENST00000293280,p.P98L|uc002hkt.1,p.P81L|ENST00000591423,p.P81L	protein_coding, nonsense_mediated_decay	uc002hkt.1	nonsynonymous SNV	exon3	c.C242T	p.P81L	ESYFETNSECSKPGVIFLTKKGRRF	ESYFETNSECSKLGVIFLTKKGRRF	5.0	1.0	-	-	4266_17:34340793-34340793 G>A_ESYFETNSECSKLGVIFLTKKGRRF
3:170218974-170218974 G>T	0.0	4266	COLON	-	-	-	-	SLC7A14	NM_020949,p.S155R|ENST00000231706,p.S155R|uc003fgz.2,p.S155R	protein_coding, processed_transcript	uc003fgz.2	nonsynonymous SNV	exon3	c.C465A	p.S155R	YLIGTAAGASALSSMFDSLANHTIS	YLIGTAAGASALRSMFDSLANHTIS	1.0	7.0	-	-	4266_3:170218974-170218974 G>T_YLIGTAAGASALRSMFDSLANHTIS
12:25378562-25378562 C>T	1.0	4266	COLON	-	-	ID=COSM1165198,COSM19404;OCCURENCE=91(large_intestine),2(small_intestine),1(upper_aerodigestive_tract),11(haematopoietic_and_lymphoid_tissue)	1	KRAS	uc001rgp.1,p.A146T|NM_033360,p.A146T|ENST00000256078,p.A146T	protein_coding	uc001rgp.1	nonsynonymous SNV	exon4	c.G436A	p.A146T	ARSYGIPFIETSAKTRQRVEDAFYT	ARSYGIPFIETSTKTRQRVEDAFYT	7.0	8.0	-	-	4266_12:25378562-25378562 C>T_ARSYGIPFIETSTKTRQRVEDAFYT
6:56336886-56336886 G>T	1.0	4266	COLON	-	-	-	-	DST	ENST00000370788,p.L4971I|uc021zaz.2,p.L5080I|uc003pcy.4,p.L4754I|uc021zay.2,p.L5120I|ENST00000446842,p.L6842I|ENST00000370754,p.L7346I|NM_183380,p.L5080I|NM_001144770,p.L5120I|NM_015548,p.L4754I|ENST00000361203,p.L7057I|ENST00000370769,p.L7168I|NM_001144769,p.L5258I|uc021zba.2,p.L5258I|ENST00000244364,p.L4754I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zba.2	nonsynonymous SNV	exon88	c.C15772A	p.L5258I	QVWLLALERRRKLNDALDRLEELRE	QVWLLALERRRKINDALDRLEELRE	8.0	8.0	-	-	4266_6:56336886-56336886 G>T_QVWLLALERRRKINDALDRLEELRE
11:134038064-134038064 G>C	1.0	4266	COLON	-	-	-	-	NCAPD3	ENST00000527944,p.L39V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000527944	nonsynonymous SNV	exon1	c.C115G	p.L39V	CLSACFADGILPLDLDASELLSDTF	CLSACFADGILPVDLDASELLSDTF	7.0	2.0	-	-	4266_11:134038064-134038064 G>C_CLSACFADGILPVDLDASELLSDTF
11:134038064-134038064 G>C	1.0	4266	COLON	-	-	-	-	NCAPD3	ENST00000530396,p.L170V|uc001qhd.1,p.L1134V|NM_015261,p.L1134V|ENST00000534548,p.L1134V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001qhd.1	nonsynonymous SNV	exon27	c.C3400G	p.L1134V	SILACFADGILPLDLDASELLSDTF	SILACFADGILPVDLDASELLSDTF	7.0	2.0	-	-	4266_11:134038064-134038064 G>C_SILACFADGILPVDLDASELLSDTF
22:21343966-21344002 GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA>-	0.0	4266	COLON	-	-	-	1	LZTR1	uc002zto.3,p.216_217del|NM_006767,p.216_217del|uc002ztn.3,p.175_176del|uc010gsr.1,p.87_88del|ENST00000389355,p.197_198del|ENST00000215739,p.216_217del|uc011ahy.2,p.197_198del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ahy.2	nonframeshift deletion	exon6	c.589_594del	p.197_198del	TIGLQDRELTCWEEVAQSGEIPPSC	TIGLQDRELTCWVAQSGEIPPSCCN	9.0	2.0	unscreened	-	4266_22:21343966-21344002 GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA>-_TIGLQDRELTCWVAQSGEIPPSCCN
1:2700215-2700215 G>A	0.0	4266	COLON	0.0032	-	-	-	TTC34	uc021oey.1,p.P209L|ENST00000401095,p.P209L|NM_001242672,p.P209L	retained_intron, protein_coding	uc021oey.1	nonsynonymous SNV	exon4	c.C626T	p.P209L	AMFDFNTVLRAEPGNVQALCGRALV	AMFDFNTVLRAELGNVQALCGRALV	2.0	2.0	-	-	4266_1:2700215-2700215 G>A_AMFDFNTVLRAELGNVQALCGRALV
11:67186691-67186691 G>A	1.0	4266	COLON	-	-	-	-	CARNS1	ENST00000423745,p.E154K|uc010rpr.2,p.E277K|ENST00000531040,p.E277K|ENST00000445895,p.E277K|uc009yrp.3,p.E154K|NM_020811,p.E154K|NM_001166222,p.E277K|ENST00000307823,p.E154K|uc001olc.4,p.E293K	retained_intron, protein_coding, processed_transcript	uc010rpr.2	nonsynonymous SNV	exon5	c.G829A	p.E277K	LVKEEVEAFLRSEALGDILQVAVKL	LVKEEVEAFLRSKALGDILQVAVKL	3.0	9.0	-	-	4266_11:67186691-67186691 G>A_LVKEEVEAFLRSKALGDILQVAVKL
2:202557656-202557656 G>A	0.0	4266	COLON	-	-	-	-	MPP4	uc010ftk.3,p.S59L|ENST00000602867,p.S72L|uc010zhs.2,p.S59L|NM_033066,p.S59L|uc010zht.2,p.S59L|uc002uym.1,p.S72L|uc002uyj.4,p.S59L|ENST00000447335,p.S59L|ENST00000428900,p.S59L|ENST00000409143,p.S59L|ENST00000396886,p.S59L|ENST00000409818,p.S72L|ENST00000409474,p.S59L|ENST00000359962,p.S59L|uc010zhr.2,p.S59L|uc002uyn.3,p.S59L|ENST00000315506,p.S59L|uc002uyk.4,p.S59L|uc010ftj.3,p.S59L|uc010zhq.2,p.S59L	retained_intron, protein_coding, nonsense_mediated_decay	uc010zht.2	nonsynonymous SNV	exon3	c.C176T	p.S59L	VNGVCLLYDLLHSPWLQALLKIYDC	VNGVCLLYDLLHLPWLQALLKIYDC	1.0	8.0	-	-	4266_2:202557656-202557656 G>A_VNGVCLLYDLLHLPWLQALLKIYDC
5:140347642-140347642 C>T	0.0	4266	COLON	-	-	ID=COSM1434084;OCCURENCE=1(large_intestine)	-	PCDHAC2	NM_031883,p.R431W|ENST00000289269,p.R431W|uc011dag.2,p.R431W|uc003lii.3,p.R431W|NM_018899,p.R431W	protein_coding	uc011dag.2	nonsynonymous SNV	exon1	c.C1291T	p.R431W	YTLVVSGPLDRERVAVYNITVTATD	YTLVVSGPLDREWVAVYNITVTATD	2.0	10.0	-	-	4266_5:140347642-140347642 C>T_YTLVVSGPLDREWVAVYNITVTATD
22:23653975-23653975 ->CCGG	0.0	4266	COLON	-	-	-	1	BCR	uc011aiy.2,p.S681fs|ENST00000305877,p.S1092fs|NM_004327,p.S1092fs|NM_021574,p.S1048fs|uc002zww.3,p.S1092fs|uc002zwx.3,p.S1048fs|ENST00000359540,p.S1048fs	retained_intron, protein_coding, processed_transcript	uc011aiy.2	frameshift insertion	exon19	c.2041_2042insCCGG	p.S681fs	RRGMEEVGIYRVSGVATDIQALKAA	RRGMEEVGIYRVSGRCGHGHPGTEGSLRRQ	10.0	8.0	-	-	4266_22:23653975-23653975 ->CCGG_RRGMEEVGIYRVSGRCGHGHPGTEGSLRRQ
19:37619041-37619041 G>T	1.0	4266	COLON	-	-	-	-	ZNF420	uc002ofl.3,p.R383I|ENST00000337995,p.R383I|ENST00000304239,p.R383I|NM_144689,p.R383I	protein_coding, processed_transcript, nonsense_mediated_decay	uc002ofl.3	nonsynonymous SNV	exon5	c.G1148T	p.R383I	AFIRGSQLTQHQRIHTNEKPYECKE	AFIRGSQLTQHQIIHTNEKPYECKE	6.0	4.0	-	-	4266_19:37619041-37619041 G>T_AFIRGSQLTQHQIIHTNEKPYECKE
11:62327644-62327644 T>C	1.0	4266	COLON	-	-	-	-	EEF1G	ENST00000329251,p.K351R|NM_001404,p.K351R|ENST00000378019,p.K401R|uc001ntm.1,p.K351R|uc010rlw.1,p.K401R	retained_intron, protein_coding, processed_transcript	uc010rlw.1	nonsynonymous SNV	exon9	c.A1202G	p.K401R	CNLITGMFQRLDKLRKNAFASVILF	CNLITGMFQRLDRLRKNAFASVILF	10.0	7.0	-	-	4266_11:62327644-62327644 T>C_CNLITGMFQRLDRLRKNAFASVILF
10:63851576-63851576 G>A	1.0	4266	COLON	-	-	-	-	ARID5B	uc001jlt.2,p.R785H|ENST00000279873,p.R785H|uc001jlu.2,p.R542H|NM_032199,p.R785H|NM_001244638,p.R542H|ENST00000309334,p.R542H	protein_coding	uc001jlu.2	nonsynonymous SNV	exon7	c.G1625A	p.R542H	FKHEKLSRSDPHRCSFSKHHLNPLA	FKHEKLSRSDPHHCSFSKHHLNPLA	7.0	5.0	-	-	4266_10:63851576-63851576 G>A_FKHEKLSRSDPHHCSFSKHHLNPLA
17:34340793-34340793 G>A	0.0	4266	COLON	-	-	-	-	CCL23	ENST00000588521,p.P10L	protein_coding, nonsense_mediated_decay	ENST00000588521	nonsynonymous SNV	exon1	c.C29T	p.P10L	FETNSECSKPGVM	FETNSECSKLGVM	5.0	1.0	unscreened	-	4266_17:34340793-34340793 G>A_FETNSECSKLGVM
16:55731824-55731824 G>T	0.0	4266	COLON	-	-	-	-	SLC6A2	ENST00000568943,p.A426S|ENST00000567238,p.A321S|uc021tio.1,p.A426S|ENST00000414754,p.A426S|ENST00000561820,p.A426S|NM_001172504,p.A426S|uc002eii.3,p.A321S|NM_001043,p.A426S|uc002eig.3,p.A426S|uc002eij.3,p.A140S|NM_001172502,p.A321S|uc002eif.3,p.A426S|ENST00000379906,p.A426S|ENST00000219833,p.A426S|NM_001172501,p.A426S|ENST00000566163,p.A381S	protein_coding	uc021tio.1	nonsynonymous SNV	exon9	c.G1276T	p.A426S	ALGLDSSMGGMEAVITGLADDFQVL	ALGLDSSMGGMESVITGLADDFQVL	1.0	9.0	-	-	4266_16:55731824-55731824 G>T_ALGLDSSMGGMESVITGLADDFQVL
6:56336886-56336886 G>T	1.0	4266	COLON	-	-	-	-	DST	ENST00000523943,p.L85I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000523943	nonsynonymous SNV	exon2	c.C253A	p.L85I	QVWLLALERRRKLNDALDRLEEVWK	QVWLLALERRRKINDALDRLEEVWK	8.0	8.0	-	-	4266_6:56336886-56336886 G>T_QVWLLALERRRKINDALDRLEEVWK
10:112838383-112838383 G>T	1.0	4266	COLON	-	-	-	-	ADRA2A	NM_000681,p.W210L|uc001kzo.3,p.W210L|ENST00000280155,p.W210L	protein_coding	uc001kzo.3	nonsynonymous SNV	exon1	c.G629T	p.W210L	PAEPRCEINDQKWYVISSCIGSFFA	PAEPRCEINDQKLYVISSCIGSFFA	5.0	8.0	-	-	4266_10:112838383-112838383 G>T_PAEPRCEINDQKLYVISSCIGSFFA
5:112179708-112179708 C>T	0.0	4266	COLON	-	-	-	1	APC	uc010jca.3,p.P2106L|NM_000038,p.P2806L|NM_001127511,p.P2788L|ENST00000257430,p.P2806L|uc011cvt.2,p.P2788L|ENST00000508376,p.P2806L|uc003kpz.4,p.P2806L|uc010jbz.3,p.P2523L|NM_001127510,p.P2806L|uc003kpy.4,p.P2806L|ENST00000457016,p.P2806L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cvt.2	nonsynonymous SNV	exon14	c.C8363T	p.P2788L	SADSTSARPSQIPTPVNNNTKKRDS	SADSTSARPSQILTPVNNNTKKRDS	8.0	2.0	-	-	4266_5:112179708-112179708 C>T_SADSTSARPSQILTPVNNNTKKRDS
2:74687409-74687409 ->C	0.0	4266	COLON	-	-	ID=COSM1409566;OCCURENCE=3(large_intestine)	-	WBP1	ENST00000409737,p.P134fs|uc002slj.2,p.P137fs|ENST00000393972,p.P171fs|ENST00000428943,p.P196fs|ENST00000233615,p.P137fs|NM_012477,p.P137fs	retained_intron, protein_coding, processed_transcript	uc002slj.2	frameshift insertion	exon4	c.412dupC	p.P137fs	PAYEDVVHRPGTPPPPYTVAPGRPL	PAYEDVVHRPGTPPPPLYCGPRPPLDCFQ	7.0	1.0	unscreened	-	4266_2:74687409-74687409 ->C_PAYEDVVHRPGTPPPPLYCGPRPPLDCFQ
X:118723545-118723545 G>A	1.0	4266	COLON	-	-	ID=COSM1113886,COSM1598786;OCCURENCE=1(endometrium)	-	NKRF	ENST00000542113,p.R630C|NM_001173488,p.R615C|uc004erq.3,p.R615C|NM_017544,p.R615C|ENST00000304449,p.R615C|uc022cdk.1,p.R630C|NM_001173487,p.R630C|uc004err.3,p.R615C|ENST00000371527,p.R615C	protein_coding, processed_transcript	uc022cdk.1	nonsynonymous SNV	exon4	c.C1888T	p.R630C	KRDIEQIIRNYARSESHTDLTFSRE	KRDIEQIIRNYACSESHTDLTFSRE	6.0	3.0	-	-	4266_X:118723545-118723545 G>A_KRDIEQIIRNYACSESHTDLTFSRE
4:94436473-94436473 G>T	0.0	4266	COLON	-	-	-	-	GRID2	uc011cdu.2,p.D607Y|ENST00000510992,p.D607Y|NM_001510,p.D702Y|ENST00000282020,p.D702Y|NM_001286838,p.D607Y|uc011cdt.2,p.D702Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cdu.2	nonsynonymous SNV	exon12	c.G1819T	p.D607Y	HVRMKGLNPFERDSMYSQMWRMINR	HVRMKGLNPFERYSMYSQMWRMINR	1.0	10.0	-	-	4266_4:94436473-94436473 G>T_HVRMKGLNPFERYSMYSQMWRMINR
6:35051001-35051001 C>T	1.0	4266	COLON	0.0005	-	-	-	ANKS1A	uc003ojx.4,p.R969W|NM_015245,p.R969W|uc010jvp.2,p.R343W|ENST00000360359,p.R969W	protein_coding, processed_transcript	uc010jvp.2	nonsynonymous SNV	exon21	c.C1027T	p.R343W	GTESTQDACAKMRKSTEHMKKIPTI	GTESTQDACAKMWKSTEHMKKIPTI	7.0	9.0	-	-	4266_6:35051001-35051001 C>T_GTESTQDACAKMWKSTEHMKKIPTI
18:71797657-71797657 G>A	0.0	4266	COLON	-	-	-	-	FBXO15	NM_152676,p.A114V|ENST00000419743,p.A190V|ENST00000269500,p.A114V|NM_001142958,p.A190V|uc002lle.2,p.A114V|uc002llf.2,p.A190V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002llf.2	nonsynonymous SNV	exon4	c.C569T	p.A190V	NPYTGLPVKTKEALRIFGLGWAIIL	NPYTGLPVKTKEVLRIFGLGWAIIL	3.0	2.0	-	-	4266_18:71797657-71797657 G>A_NPYTGLPVKTKEVLRIFGLGWAIIL
12:56428757-56428757 ->TGCGGGG	0.0	4266	COLON	-	-	-	-	IKZF4	uc001sjb.1,p.V467fs|ENST00000547791,p.V422fs|uc009zoi.1,p.V422fs|NM_022465,p.V467fs|ENST00000431367,p.V365fs|uc010sqa.1,p.V420fs|ENST00000547167,p.V467fs|ENST00000262032,p.V467fs|uc001sjc.1,p.V467fs|uc001sjd.1,p.V365fs|uc001sje.1,p.V426fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sqa.1	frameshift insertion	exon7	c.1259_1260insTGCGGGG	p.V420fs	DSTDTESNHEDRVAGVVSLPQGPPP	DSTDTESNHEDRVAGCGGGIPPSGSPTPATSHHCGGPAQSCLRQRGPQATGGVIAGHPRPLQGSASGGGREW	4.0	5.0	-	-	4266_12:56428757-56428757 ->TGCGGGG_DSTDTESNHEDRVAGCGGGIPPSGSPTPATSHHCGGPAQSCLRQRGPQATGGVIAGHPRPLQGSASGGGREW
5:93820600-93820600 A>C	0.0	4266	COLON	-	-	-	-	KIAA0825	ENST00000513200,p.S336A|NM_001145678,p.S336A|ENST00000312498,p.S336A|ENST00000427991,p.S336A|uc011cuk.2,p.S336A	retained_intron, protein_coding, processed_transcript	uc011cuk.2	nonsynonymous SNV	exon6	c.T1006G	p.S336A	VTTECPQKGRNFSLPLDKVEFLSQL	VTTECPQKGRNFALPLDKVEFLSQL	4.0	5.0	-	-	4266_5:93820600-93820600 A>C_VTTECPQKGRNFALPLDKVEFLSQL
1:21900226-21900226 G>A	0.0	4266	COLON	-	-	-	-	ALPL	ENST00000374840,p.E311K|NM_001177520,p.E234K|ENST00000540617,p.E256K|uc010odn.2,p.E259K|uc010odo.2,p.E256K|uc001beu.4,p.E311K|NM_000478,p.E311K|ENST00000539907,p.E234K|NM_001127501,p.E256K|ENST00000374832,p.E311K|ENST00000425315,p.E311K|uc010odp.2,p.E234K|uc001bet.3,p.E311K	protein_coding, processed_transcript	uc010odp.2	nonsynonymous SNV	exon7	c.G700A	p.E234K	LNRNNVTDPSLSEMVVVAIQILRKN	LNRNNVTDPSLSKMVVVAIQILRKN	6.0	9.0	-	-	4266_1:21900226-21900226 G>A_LNRNNVTDPSLSKMVVVAIQILRKN
7:99473836-99473836 G>T	0.0	4266	COLON	-	-	-	-	OR2AE1	NM_001005276,p.S274Y|ENST00000316368,p.S274Y|uc003usc.1,p.S274Y	protein_coding	uc003usc.1	nonsynonymous SNV	exon1	c.C821A	p.S274Y	RSQCTLLQNKVGSVFYSIITPTLNS	RSQCTLLQNKVGYVFYSIITPTLNS	2.0	10.0	-	-	4266_7:99473836-99473836 G>T_RSQCTLLQNKVGYVFYSIITPTLNS
8:16884892-16884892 C>T	0.0	4266	COLON	-	-	-	-	MICU3	ENST00000318063,p.T35I|NM_181723,p.T35I|uc003wxd.2,p.T35I	retained_intron, protein_coding, processed_transcript	uc003wxd.2	nonsynonymous SNV	exon1	c.C104T	p.T35I	PLLGPWGRPAVTTLGLPGRPFSSRE	PLLGPWGRPAVTILGLPGRPFSSRE	4.0	10.0	-	-	4266_8:16884892-16884892 C>T_PLLGPWGRPAVTILGLPGRPFSSRE
11:64039159-64039159 G>A	1.0	4266	COLON	-	-	-	-	BAD	NM_032989,p.P102S|ENST00000309032,p.P102S|ENST00000493798,p.P17S|uc001nzc.3,p.P102S|NM_004322,p.P102S|ENST00000492141,p.P17S|uc001nzd.3,p.P102S|ENST00000394532,p.P102S	retained_intron, protein_coding	uc001nzd.3	nonsynonymous SNV	exon3	c.C304T	p.P102S	PSPFRGRSRSAPPNLWAAQRYGREL	PSPFRGRSRSAPSNLWAAQRYGREL	6.0	5.0	-	-	4266_11:64039159-64039159 G>A_PSPFRGRSRSAPSNLWAAQRYGREL
3:123675250-123675250 A>G	1.0	4266	COLON	-	-	-	-	CCDC14	ENST00000409657,p.F52L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000409657	nonsynonymous SNV	exon2	c.T154C	p.F52L	RPGQDLFKKNTTF	RPGQDLFKKNTTL	8.0	4.0	-	-	4266_3:123675250-123675250 A>G_RPGQDLFKKNTTL
5:136974710-136974710 C>T	0.0	4266	COLON	-	-	-	-	KLHL3	NM_017415,p.R384Q|uc003lbr.5,p.R302Q|ENST00000506491,p.R302Q|uc031sle.1,p.R352Q|NM_001257195,p.R302Q|uc010jek.3,p.R384Q|NM_001257194,p.R352Q|ENST00000508657,p.R352Q|uc011cyc.2,p.R153Q|uc010jel.1,p.R153Q|ENST00000505853,p.R344Q|uc010jem.1,p.R344Q|ENST00000309755,p.R384Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031sle.1	nonsynonymous SNV	exon10	c.G1055A	p.R352Q	DQWTSIASMQERRSTLGAAVLNDLL	DQWTSIASMQERQSTLGAAVLNDLL	5.0	6.0	-	-	4266_5:136974710-136974710 C>T_DQWTSIASMQERQSTLGAAVLNDLL
15:50339561-50339561 A>T	0.0	4266	COLON	-	-	-	-	ATP8B4	uc001zxu.3,p.L63H|ENST00000284509,p.L63H|ENST00000559726,p.L63H|ENST00000557955,p.L63H|ENST00000558906,p.L63H|NM_024837,p.L63H|ENST00000559829,p.L63H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zxu.3	nonsynonymous SNV	exon4	c.T188A	p.L63H	QFQRVANAYFLCLLILQLIPEISSL	QFQRVANAYFLCHLILQLIPEISSL	5.0	1.0	-	-	4266_15:50339561-50339561 A>T_QFQRVANAYFLCHLILQLIPEISSL
5:90050950-90050950 T>C	0.0	4266	COLON	-	-	-	-	GPR98	uc003kjv.3,p.I1443T|NM_032119,p.I3843T|ENST00000405460,p.I3843T|uc003kju.3,p.I3843T	retained_intron, protein_coding, processed_transcript	uc003kjv.3	nonsynonymous SNV	exon23	c.T4328C	p.I1443T	TENEDYVLQETIIIMKENIKEAHAE	TENEDYVLQETITIMKENIKEAHAE	5.0	7.0	-	-	4266_5:90050950-90050950 T>C_TENEDYVLQETITIMKENIKEAHAE
8:67062045-67062045 A>T	0.0	4266	COLON	-	-	-	-	TRIM55	uc003xvu.3,p.N257Y|ENST00000276573,p.N257Y|uc003xvw.3,p.N257Y|NM_184085,p.N257Y|NM_033058,p.N257Y|uc003xvv.3,p.N257Y|NM_184086,p.N257Y|ENST00000353317,p.N257Y|ENST00000315962,p.N257Y	retained_intron, protein_coding	uc003xvw.3	nonsynonymous SNV	exon5	c.A769T	p.N257Y	RALIKKYSDHLENVSKLVESGIQFM	RALIKKYSDHLEYVSKLVESGIQFM	4.0	9.0	-	-	4266_8:67062045-67062045 A>T_RALIKKYSDHLEYVSKLVESGIQFM
3:10970946-10970946 G>A	0.0	4266	COLON	-	-	ID=COSM1642045;OCCURENCE=1(stomach)	-	SLC6A11	ENST00000254488,p.R431Q|NM_014229,p.R431Q|uc003bvz.3,p.R431Q	retained_intron, protein_coding	uc003bvz.3	nonsynonymous SNV	exon10	c.G1292A	p.R431Q	VTAVVDMYPKVFRRGYRRELLILAL	VTAVVDMYPKVFQRGYRRELLILAL	1.0	6.0	-	-	4266_3:10970946-10970946 G>A_VTAVVDMYPKVFQRGYRRELLILAL
X:118215341-118215341 G>A	0.0	4266	COLON	-	-	-	-	KIAA1210	ENST00000402510,p.A1694V|NM_020721,p.A1694V|uc004era.4,p.A1694V	protein_coding	uc004era.4	nonsynonymous SNV	exon14	c.C5081T	p.A1694V	PVEPIEPVWFSLARKKAKAWSHMAE	PVEPIEPVWFSLVRKKAKAWSHMAE	1.0	9.0	-	-	4266_X:118215341-118215341 G>A_PVEPIEPVWFSLVRKKAKAWSHMAE
4:173150896-173150896 G>T	0.0	4266	COLON	-	-	-	-	GALNTL6	uc003isv.3,p.Q76H|ENST00000508122,p.Q59H|NM_001034845,p.Q76H|ENST00000506823,p.Q76H	protein_coding, processed_transcript	uc003isv.3	nonsynonymous SNV	exon3	c.G228T	p.Q76H	LRRKDWHDYESIQKEAMRSGKGEHG	LRRKDWHDYESIHKEAMRSGKGEHG	1.0	6.0	-	-	4266_4:173150896-173150896 G>T_LRRKDWHDYESIHKEAMRSGKGEHG
12:25378562-25378562 C>T	1.0	4266	COLON	-	-	ID=COSM1165198,COSM19404;OCCURENCE=91(large_intestine),2(small_intestine),1(upper_aerodigestive_tract),11(haematopoietic_and_lymphoid_tissue)	1	KRAS	uc001rgq.1,p.A146T|NM_004985,p.A146T|ENST00000311936,p.A146T	protein_coding	uc001rgq.1	nonsynonymous SNV	exon4	c.G436A	p.A146T	ARSYGIPFIETSAKTRQGVDDAFYT	ARSYGIPFIETSTKTRQGVDDAFYT	7.0	8.0	unscreened	-	4266_12:25378562-25378562 C>T_ARSYGIPFIETSTKTRQGVDDAFYT
X:30577674-30577674 C>A	0.0	4266	COLON	-	-	-	-	CXorf21	NM_025159,p.A267S|uc004dcg.2,p.A267S|uc022bui.1,p.A267S|ENST00000378962,p.A267S	protein_coding	uc022bui.1	nonsynonymous SNV	exon1	c.G799T	p.A267S	QVSREKNLETSKARDIVFSRLLQLM	QVSREKNLETSKSRDIVFSRLLQLM	2.0	8.0	-	-	4266_X:30577674-30577674 C>A_QVSREKNLETSKSRDIVFSRLLQLM
1:17609411-17609411 G>T	1.0	4266	COLON	-	-	-	-	PADI3	NM_016233,p.C611F|uc001bai.3,p.C611F|ENST00000375460,p.C611F	protein_coding	uc001bai.3	nonsynonymous SNV	exon16	c.G1832T	p.C611F	IPKPFGPIINGCCCLEEKVRSLLEP	IPKPFGPIINGCFCLEEKVRSLLEP	8.0	4.0	-	-	4266_1:17609411-17609411 G>T_IPKPFGPIINGCFCLEEKVRSLLEP
4:134073192-134073192 T>C	0.0	4266	COLON	-	-	-	-	PCDH10	NM_020815,p.W633R|NM_032961,p.W633R|uc003igz.3,p.W633R|ENST00000264360,p.W633R|uc003iha.3,p.W633R	retained_intron, protein_coding	uc003iha.3	nonsynonymous SNV	exon1	c.T1897C	p.W633R	VRGNEMNLFRMDWRTGELRTARRVP	VRGNEMNLFRMDRRTGELRTARRVP	1.0	3.0	-	-	4266_4:134073192-134073192 T>C_VRGNEMNLFRMDRRTGELRTARRVP
4:110606519-110606519 C>G	0.0	4266	COLON	-	-	-	-	CCDC109B	NM_017918,p.A310G|uc011cfs.2,p.A310G|ENST00000394650,p.A310G	retained_intron, protein_coding, processed_transcript	uc011cfs.2	nonsynonymous SNV	exon7	c.C929G	p.A310G	DVQQYNKLKEDLAKAKESLKQARHS	DVQQYNKLKEDLGKAKESLKQARHS	6.0	1.0	-	-	4266_4:110606519-110606519 C>G_DVQQYNKLKEDLGKAKESLKQARHS
18:61600354-61600354 G>T	0.0	4266	COLON	-	-	-	-	SERPINB10	ENST00000238508,p.A236S|uc010xew.2,p.A236S|NM_005024,p.A236S|uc010xev.2,p.A236S	protein_coding	uc010xew.2	nonsynonymous SNV	exon6	c.G706T	p.A236S	KKLHIFHIEKPKAVGLQLYYKSRDL	KKLHIFHIEKPKSVGLQLYYKSRDL	1.0	6.0	-	-	4266_18:61600354-61600354 G>T_KKLHIFHIEKPKSVGLQLYYKSRDL
X:107979147-107979147 G>A	0.0	4266	COLON	-	-	-	1	IRS4	uc004eoc.2,p.P143L|ENST00000372129,p.P143L|NM_003604,p.P143L	protein_coding	uc004eoc.2	nonsynonymous SNV	exon1	c.C428T	p.P143L	AAASGAAIPPLIPPRRVITLYQCFS	AAASGAAIPPLILPRRVITLYQCFS	3.0	5.0	-	-	4266_X:107979147-107979147 G>A_AAASGAAIPPLILPRRVITLYQCFS
3:195506482-195506482 G>T	1.0	4266	COLON	-	-	ID=COSM3847098,COSM3847097;OCCURENCE=1(breast)	2	MUC4	ENST00000466475,p.T3990N|ENST00000479406,p.T3990N|ENST00000470451,p.T3990N|ENST00000475231,p.T3990N|ENST00000463781,p.T3990N|ENST00000480843,p.T3990N|ENST00000477756,p.T3990N|ENST00000478156,p.T3990N|uc021xjp.1,p.T3990N|ENST00000462323,p.T3990N|NM_018406,p.T3990N|ENST00000477086,p.T3990N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C11969A	p.T3990N	STGHATPLPVTDTSSVSTGHATPLP	STGHATPLPVTDNSSVSTGHATPLP	7.0	1.0	unscreened	-	4266_3:195506482-195506482 G>T_STGHATPLPVTDNSSVSTGHATPLP
10:55663064-55663064 T>G	0.0	4266	COLON	-	-	-	-	PCDH15	NM_001142764,p.K1147T|uc010qhq.2,p.K1152T|ENST00000320301,p.K1147T|uc021pqw.1,p.K1159T|ENST00000414778,p.K1152T|uc010qhr.2,p.K1147T|uc010qhw.1,p.K1110T|ENST00000361849,p.K1147T|uc021pqz.1,p.K1125T|ENST00000395432,p.K1110T|NM_033056,p.K1147T|uc010qhz.1,p.K1147T|NM_001142767,p.K1110T|uc010qib.1,p.K1125T|NM_001142763,p.K1152T|uc021pqy.1,p.K1147T|NM_001142773,p.K1125T|NM_001142765,p.K1076T|ENST00000395445,p.K1154T|uc010qhv.1,p.K1147T|uc010qia.1,p.K1125T|ENST00000373965,p.K1154T|uc010qht.2,p.K1154T|ENST00000437009,p.K1076T|ENST00000395430,p.K1147T|NM_001142766,p.K1147T|uc021pqx.1,p.K1147T|uc001jju.1,p.K1147T|uc021pqv.1,p.K1147T|ENST00000395438,p.K1147T|ENST00000409834,p.K758T|NM_001142768,p.K1125T|ENST00000395433,p.K1125T|uc010qhy.1,p.K1152T|uc010qhx.1,p.K1076T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021pqz.1	nonsynonymous SNV	exon24	c.A3374C	p.K1125T	QDENNHPPVFQKKFYIGGVSEDARM	QDENNHPPVFQKTFYIGGVSEDARM	4.0	1.0	-	-	4266_10:55663064-55663064 T>G_QDENNHPPVFQKTFYIGGVSEDARM
9:34971428-34971428 C>T	0.0	4266	COLON	-	-	-	-	KIAA1045	uc003zvr.3,p.R45C|ENST00000544237,p.R45C|uc003zvq.3,p.R45C|ENST00000242315,p.R45C|NM_015297,p.R45C	protein_coding, processed_transcript, nonsense_mediated_decay	uc003zvr.3	nonsynonymous SNV	exon2	c.C133T	p.R45C	SIRRTGELPGSRRGTVEGSVQEVQE	SIRRTGELPGSRCGTVEGSVQEVQE	1.0	9.0	-	-	4266_9:34971428-34971428 C>T_SIRRTGELPGSRCGTVEGSVQEVQE
20:17445986-17445986 G>C	0.0	4266	COLON	-	-	-	-	PCSK2	ENST00000536609,p.W371C|ENST00000377899,p.W387C|NM_001201528,p.W387C|NM_001201529,p.W371C|uc002wpl.3,p.W387C|ENST00000262545,p.W406C|uc010zrm.2,p.W371C|NM_002594,p.W406C|uc002wpm.3,p.W406C	protein_coding, processed_transcript	uc010zrm.2	nonsynonymous SNV	exon10	c.G1113C	p.W371C	FALALEANLGLTWRDMQHLTVLTSK	FALALEANLGLTCRDMQHLTVLTSK	1.0	5.0	-	-	4266_20:17445986-17445986 G>C_FALALEANLGLTCRDMQHLTVLTSK
1:245927402-245927402 C>G	1.0	4266	COLON	-	-	-	-	SMYD3	ENST00000490107,p.V317L|NM_022743,p.V317L|ENST00000388985,p.V376L|ENST00000541742,p.V317L|NM_001167740,p.V376L|uc001ibl.3,p.V376L|uc001ibj.3,p.V187L|uc001ibk.3,p.V317L	retained_intron, protein_coding, processed_transcript	uc001ibl.3	nonsynonymous SNV	exon11	c.G1126C	p.V376L	GSHPVRGVQVMKVGKLQLHQGMFPQ	GSHPVRGVQVMKLGKLQLHQGMFPQ	8.0	6.0	-	-	4266_1:245927402-245927402 C>G_GSHPVRGVQVMKLGKLQLHQGMFPQ
7:98449098-98449098 C>T	0.0	4266	COLON	-	-	ID=COSM602952;OCCURENCE=1(lung)	-	TMEM130	uc011kiq.2,p.E299K|uc003upn.3,p.E216K|uc003upo.3,p.E318K|ENST00000345589,p.E216K|uc011kir.2,p.E318K|ENST00000450876,p.E234K|NM_001134451,p.E216K|ENST00000416379,p.E318K|ENST00000339375,p.E318K|NM_001134450,p.E318K|NM_152913,p.E318K|ENST00000546258,p.E299K	protein_coding, processed_transcript	uc011kir.2	nonsynonymous SNV	exon6	c.G952A	p.E318K	RDPGDYCFSIRAENIISKTHQYHKI	RDPGDYCFSIRAKNIISKTHQYHKI	3.0	9.0	-	-	4266_7:98449098-98449098 C>T_RDPGDYCFSIRAKNIISKTHQYHKI
20:21689972-21689972 C>T	0.0	4266	COLON	-	-	-	-	PAX1	NM_006192,p.P391L|ENST00000398485,p.P391L|NM_001257096,p.P391L|uc010zsm.3,p.P367L|uc010zsl.3,p.P391L|uc002wsj.3,p.P391L|ENST00000444366,p.P367L	retained_intron, protein_coding, processed_transcript	uc010zsm.3	nonsynonymous SNV	exon3	c.C1100T	p.P367L	YSAPGGGYLAPGPPWPPAQGPPLAP	YSAPGGGYLAPGLPWPPAQGPPLAP	1.0	10.0	-	-	4266_20:21689972-21689972 C>T_YSAPGGGYLAPGLPWPPAQGPPLAP
8:11565948-11565948 C>T	0.0	4266	COLON	-	-	-	-	GATA4	ENST00000528027,p.R43W|uc003wuc.2,p.R43W|ENST00000532059,p.R43W|uc011kxb.1,p.R43W|ENST00000335135,p.R43W|NM_002052,p.R43W|uc011kxc.1,p.R43W|uc010lrz.1,p.R43W	retained_intron, protein_coding, processed_transcript	uc011kxc.1	nonsynonymous SNV	exon1	c.C127T	p.R43W	GAASSPVYVPTPRVPSSVLGLSYLQ	GAASSPVYVPTPWVPSSVLGLSYLQ	4.0	3.0	-	-	4266_8:11565948-11565948 C>T_GAASSPVYVPTPWVPSSVLGLSYLQ
5:36039599-36039599 A>C	0.0	4266	COLON	-	-	-	-	UGT3A2	NM_174914,p.L352R|uc011cos.2,p.L318R|uc011cot.2,p.L50R|ENST00000513300,p.L318R|ENST00000545528,p.L50R|ENST00000282507,p.L352R|uc003jjz.2,p.L352R|NM_001168316,p.L318R	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cot.2	nonsynonymous SNV	exon4	c.T149G	p.L50R	VHLAANVKIVDWLPQSDLLAHPSIR	VHLAANVKIVDWRPQSDLLAHPSIR	1.0	1.0	-	-	4266_5:36039599-36039599 A>C_VHLAANVKIVDWRPQSDLLAHPSIR
2:179486277-179486277 C>T	1.0	4266	COLON	-	-	-	-	TTN	uc021vsy.2,p.A12524T|uc021vtb.2,p.A6027T|uc031rqc.1,p.A15092T|NM_001267550,p.A15092T|NM_133378,p.A12524T|ENST00000591111,p.A13451T|ENST00000359218,p.A6152T|uc031rqd.1,p.A13451T|ENST00000589042,p.A15092T|ENST00000460472,p.A6027T|NM_133437,p.A6219T|ENST00000342175,p.A6219T|uc021vsz.2,p.A6219T|uc021vta.2,p.A6152T|NM_133432,p.A6152T|NM_003319,p.A6027T|NM_001256850,p.A13451T|ENST00000342992,p.A12524T	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon195	c.G40351A	p.A13451T	TEGRKRILVIQNAHLEDAGNYNCRL	TEGRKRILVIQNTHLEDAGNYNCRL	5.0	8.0	-	-	4266_2:179486277-179486277 C>T_TEGRKRILVIQNTHLEDAGNYNCRL
19:36002419-36002421 CCA>-	1.0	4266	COLON	0.21	rs72334573	ID=COSM1734490,COSM1734489;OCCURENCE=1(pancreas)	-	DMKN	NM_001190349,p.270_271del|NM_001126058,p.270_271del|uc002oab.4,p.270_271del|uc002nzz.3,p.270_271del|uc002nzm.4,p.270_271del|NM_001126057,p.270_271del|NM_001190348,p.270_271del|ENST00000447113,p.270_271del|uc002oac.4,p.270_271del|uc002oaa.4,p.270_271del|ENST00000418261,p.270_271del|ENST00000339686,p.270_271del|ENST00000440396,p.270_271del|NM_033317,p.270_271del|ENST00000451297,p.270_271del|ENST00000424570,p.270_271del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002oac.4	nonframeshift deletion	exon5	c.810_812del	p.270_271del	GSNGDNNNGSSSGGSSSGSSSGGSS	GSNGDNNNGSSSGSSSGSSSGGSSG	8.0	10.0	unscreened	-	4266_19:36002419-36002421 CCA>-_GSNGDNNNGSSSGSSSGSSSGGSSG
5:80742707-80742707 G>T	0.0	4266	COLON	-	-	-	-	SSBP2	ENST00000512923,p.P159H|ENST00000509053,p.P223H|uc011ctq.3,p.P231H|uc011ctr.3,p.P223H|uc003kho.4,p.P253H|NM_012446,p.P253H|uc003khp.4,p.P261H|uc031skm.1,p.P223H|NM_001256736,p.P223H|NM_001256734,p.P231H|ENST00000320672,p.P253H|ENST00000504985,p.P167H|NM_001256732,p.P261H|NM_001256735,p.P223H|ENST00000515395,p.P231H|NM_001256733,p.P233H|uc011ctp.3,p.P233H|ENST00000505980,p.P233H|ENST00000514493,p.P223H	retained_intron, protein_coding, processed_transcript	uc031skm.1	nonsynonymous SNV	exon11	c.C668A	p.P223H	VGPPGGGGPPGTPIMPSPADSTNSG	VGPPGGGGPPGTHIMPSPADSTNSG	7.0	4.0	-	-	4266_5:80742707-80742707 G>T_VGPPGGGGPPGTHIMPSPADSTNSG
X:12938926-12938926 A>C	0.0	4266	COLON	-	-	-	-	TLR8	NM_138636,p.L589F|ENST00000218032,p.L589F|NM_016610,p.L607F|uc004cvd.3,p.L607F|uc004cve.3,p.L589F|ENST00000311912,p.L607F	protein_coding	uc004cve.3	nonsynonymous SNV	exon2	c.A1767C	p.L589F	LEFIQNFTNLKVLNLSHNNIYTLTD	LEFIQNFTNLKVFNLSHNNIYTLTD	4.0	7.0	-	-	4266_X:12938926-12938926 A>C_LEFIQNFTNLKVFNLSHNNIYTLTD
7:4051785-4051785 C>T	0.0	4266	COLON	-	-	ID=COSM1450671;OCCURENCE=1(large_intestine)	-	SDK1	ENST00000404826,p.R780W|uc003smx.3,p.R780W|ENST00000389531,p.R780W|uc010kso.3,p.R56W|NM_152744,p.R780W	retained_intron, protein_coding, processed_transcript	uc010kso.3	nonsynonymous SNV	exon2	c.C166T	p.R56W	PSAPPKNIVASGRTNQSIMVQWQPP	PSAPPKNIVASGWTNQSIMVQWQPP	5.0	9.0	-	-	4266_7:4051785-4051785 C>T_PSAPPKNIVASGWTNQSIMVQWQPP
X:69640030-69640030 C>A	1.0	4266	COLON	-	-	-	-	KIF4A	uc004dyg.3,p.A1205D|uc010nkw.3,p.A1205D|ENST00000374403,p.A1205D|NM_012310,p.A1205D	protein_coding, processed_transcript	uc010nkw.3	nonsynonymous SNV	exon30	c.C3614A	p.A1205D	LKHVATEYQENKAPGKKKKRALASN	LKHVATEYQENKDPGKKKKRALASN	8.0	1.0	-	-	4266_X:69640030-69640030 C>A_LKHVATEYQENKDPGKKKKRALASN
X:105192744-105192744 T>A	0.0	4266	COLON	-	-	-	-	NRK	ENST00000540278,p.L38Q|uc011msi.2,p.L38Q	protein_coding	uc011msi.2	nonsynonymous SNV	exon1	c.T113A	p.L38Q	AGTWPQAPGLSTLGLNIIILPDCLG	AGTWPQAPGLSTQGLNIIILPDCLG	3.0	1.0	unscreened	-	4266_X:105192744-105192744 T>A_AGTWPQAPGLSTQGLNIIILPDCLG
2:173891885-173891885 G>T	0.0	4266	COLON	-	-	ID=COSM1663827;OCCURENCE=1(kidney)	-	RAPGEF4	ENST00000539331,p.R666I|ENST00000409036,p.R819I|NM_001282900,p.R648I|ENST00000538974,p.R648I|ENST00000540783,p.R666I|uc002uhv.4,p.R819I|NM_001282899,p.R666I|ENST00000535187,p.R599I|ENST00000397085,p.R50I|ENST00000264111,p.R818I|NM_007023,p.R819I|uc002uhw.4,p.R675I|ENST00000397081,p.R819I|NM_001100397,p.R675I|NM_001282901,p.R599I|ENST00000397087,p.R675I	retained_intron, protein_coding, processed_transcript	uc002uhw.4	nonsynonymous SNV	exon22	c.G2024T	p.R675I	KKTTANLDLFLRRFNEIQFWVVTEI	KKTTANLDLFLRIFNEIQFWVVTEI	6.0	4.0	-	-	4266_2:173891885-173891885 G>T_KKTTANLDLFLRIFNEIQFWVVTEI
3:195506390-195506390 T>C	1.0	4266	COLON	-	-	-	2	MUC4	ENST00000470451,p.S4021G|ENST00000463781,p.S4021G|ENST00000466475,p.S4021G|ENST00000479406,p.S4021G|NM_018406,p.S4021G|ENST00000477756,p.S4021G|ENST00000478156,p.S4021G|ENST00000480843,p.S4021G|ENST00000477086,p.S4021G|uc021xjp.1,p.S4021G|ENST00000475231,p.S4021G|ENST00000462323,p.S4021G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.A12061G	p.S4021G	VSTGHATPLPVTSPSSASTGHATPV	VSTGHATPLPVTGPSSASTGHATPV	7.0	2.0	unscreened	-	4266_3:195506390-195506390 T>C_VSTGHATPLPVTGPSSASTGHATPV
X:144904173-144904173 T>G	0.0	4266	COLON	-	-	-	-	SLITRK2	NM_001144008,p.L77R|uc004fcg.3,p.L77R|uc011mwt.2,p.L77R|NM_032539,p.L77R|ENST00000434188,p.L77R|ENST00000370490,p.L77R|NM_001144004,p.L77R|uc011mwr.2,p.L77R|uc010nsp.3,p.L77R|NM_001144005,p.L77R|ENST00000447897,p.L77R|uc011mwq.2,p.L77R|uc010nso.3,p.L77R|ENST00000335565,p.L77R|uc011mws.2,p.L77R|NM_001144010,p.L77R|ENST00000413937,p.L77R|NM_001144003,p.L77R|NM_001144009,p.L77R|NM_001144006,p.L77R|uc022cfn.1,p.L77R|uc004fcd.3,p.L77R|ENST00000428560,p.L77R	protein_coding	uc022cfn.1	nonsynonymous SNV	exon1	c.T230G	p.L77R	YQLFLNGNLLTRLYPNEFVNYSNAV	YQLFLNGNLLTRRYPNEFVNYSNAV	1.0	2.0	-	-	4266_X:144904173-144904173 T>G_YQLFLNGNLLTRRYPNEFVNYSNAV
1:204970369-204970369 C>T	0.0	4266	COLON	-	-	-	-	NFASC	NM_001005388,p.H1031Y|ENST00000367170,p.H1059Y|ENST00000367172,p.H1138Y|ENST00000367171,p.H1123Y|ENST00000339876,p.H1031Y|ENST00000401399,p.H1031Y|uc001hbj.3,p.H1031Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001hbj.3	nonsynonymous SNV	exon26	c.C3091T	p.H1031Y	LPNSKWANITWKHNFGPGTDFVVEY	LPNSKWANITWKYNFGPGTDFVVEY	6.0	7.0	-	-	4266_1:204970369-204970369 C>T_LPNSKWANITWKYNFGPGTDFVVEY
14:19553502-19553502 G>T	0.0	4266	COLON	-	-	-	-	POTEG	NM_001005356,p.R29L|uc001vuz.1,p.R29L|ENST00000547889,p.R29L|ENST00000409832,p.R29L|ENST00000552966,p.R29L	protein_coding, nonsense_mediated_decay	uc001vuz.1	nonsynonymous SNV	exon1	c.G86T	p.R29L	PFGLRSKMGKWCRHCFPWCRGSGKS	PFGLRSKMGKWCLHCFPWCRGSGKS	4.0	3.0	unscreened	-	4266_14:19553502-19553502 G>T_PFGLRSKMGKWCLHCFPWCRGSGKS
14:20020135-20020135 C>A	0.0	4266	COLON	-	-	-	-	POTEM	NM_001145442,p.R29L|ENST00000547848,p.R29L|ENST00000551509,p.R29L|ENST00000547722,p.R29L|uc001vwc.3,p.R29L	protein_coding, nonsense_mediated_decay	uc001vwc.3	nonsynonymous SNV	exon1	c.G86T	p.R29L	PFGLRSKMGKWCRHCFPWCRGSGKS	PFGLRSKMGKWCLHCFPWCRGSGKS	3.0	2.0	-	-	4266_14:20020135-20020135 C>A_PFGLRSKMGKWCLHCFPWCRGSGKS
12:131781467-131781467 C>T	0.0	4266	COLON	-	-	-	-	LINC01257,LOC338797	ENST00000598023,p.T176M	protein_coding	ENST00000598023	nonsynonymous SNV	exon1	c.C527T	p.T176M	ASRACGDGHRRSTCQAQGSCTGLPP	ASRACGDGHRRSMCQAQGSCTGLPP	1.0	1.0	unscreened	-	4266_12:131781467-131781467 C>T_ASRACGDGHRRSMCQAQGSCTGLPP
3:33339184-33339184 T>C	1.0	4266	COLON	-	-	-	-	FBXL2	ENST00000422741,p.I11T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000422741	nonsynonymous SNV	exon2	c.T32C	p.I11T	MVFSNNDEGLINKKLPKELLLRV	MVFSNNDEGLTNKKLPKELLLRV	6.0	5.0	unscreened	-	4266_3:33339184-33339184 T>C_MVFSNNDEGLTNKKLPKELLLRV
3:33339184-33339184 T>C	1.0	4266	COLON	-	-	-	-	FBXL2	ENST00000421391,p.I11T|uc003cfp.3,p.I11T|NM_012157,p.I11T|ENST00000484457,p.I11T|ENST00000507198,p.I11T|NM_001171713,p.I11T|uc021wuy.1,p.I11T|ENST00000538892,p.I11T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wuy.1	nonsynonymous SNV	exon2	c.T32C	p.I11T	MVFSNNDEGLINKKLPKELLLRI	MVFSNNDEGLTNKKLPKELLLRI	6.0	5.0	-	-	4266_3:33339184-33339184 T>C_MVFSNNDEGLTNKKLPKELLLRI
12:53045615-53045615 ->CCTCCAAAGCCGCTGCCG	0.0	4266	COLON	-	-	ID=COSM1362558;OCCURENCE=1(large_intestine)	-	KRT2	NM_000423,p.G104delinsGGSGFGG|uc001sat.3,p.G104delinsGGSGFGG|ENST00000309680,p.G104delinsGGSGFGG	retained_intron, protein_coding	uc001sat.3	nonframeshift insertion	exon1	c.311_312insCGGCAGCGGCTTTGGAGG	p.G104delinsGGSGFGG	RGGGFGGGSSFGGGSGFSGGGFGGG	RGGGFGGGSSFGGGSGFGGGSGFSG	3.0	7.0	unscreened	-	4266_12:53045615-53045615 ->CCTCCAAAGCCGCTGCCG_RGGGFGGGSSFGGGSGFGGGSGFSG
15:43045060-43045060 C>T	1.0	4266	COLON	-	-	-	-	TTBK2	ENST00000267890,p.R795K|NM_173500,p.R795K|uc001zqo.2,p.R795K|uc010bcy.2,p.R726K	protein_coding, processed_transcript	uc010bcy.2	nonsynonymous SNV	exon13	c.G2177A	p.R726K	LLESDNEDEKLSRGQHCIEISSLPG	LLESDNEDEKLSKGQHCIEISSLPG	6.0	7.0	-	-	4266_15:43045060-43045060 C>T_LLESDNEDEKLSKGQHCIEISSLPG
10:13264116-13264116 C>T	0.0	4266	COLON	-	-	ID=COSM916231;OCCURENCE=1(endometrium)	-	UCMA	ENST00000463405,p.R113H|ENST00000378681,p.R135H|uc001imd.3,p.R135H|NM_145314,p.R135H	protein_coding, processed_transcript	uc001imd.3	nonsynonymous SNV	exon5	c.G404A	p.R135H	HYDGLHPSYLYNRHHT	HYDGLHPSYLYNHHHT	1.0	9.0	-	-	4266_10:13264116-13264116 C>T_HYDGLHPSYLYNHHHT
20:58468231-58468231 C>G	0.0	4266	COLON	-	-	-	-	SYCP2	uc002yaz.3,p.D587H|NM_014258,p.D587H|ENST00000371001,p.D587H|ENST00000357552,p.D587H|ENST00000446834,p.D587H	retained_intron, protein_coding, processed_transcript	uc002yaz.3	nonsynonymous SNV	exon21	c.G1759C	p.D587H	NQNFSELQDVIPDSQAAEKRDHTIL	NQNFSELQDVIPHSQAAEKRDHTIL	4.0	7.0	-	-	4266_20:58468231-58468231 C>G_NQNFSELQDVIPHSQAAEKRDHTIL
3:33339184-33339184 T>C	1.0	4266	COLON	-	-	-	-	FBXL2	ENST00000435207,p.I11T|ENST00000425973,p.I11T|ENST00000451636,p.I11T|ENST00000432809,p.I11T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000451636	nonsynonymous SNV	exon2	c.T32C	p.I11T	MVFSNNDEGLINKKLPKELLLRM	MVFSNNDEGLTNKKLPKELLLRM	6.0	5.0	unscreened	-	4266_3:33339184-33339184 T>C_MVFSNNDEGLTNKKLPKELLLRM
2:131981272-131981272 G>T	0.0	4266	COLON	-	-	-	-	POTEE	ENST00000356920,p.A209S|NM_001083538,p.A209S|uc002tsn.2,p.A209S	protein_coding	uc002tsn.2	nonsynonymous SNV	exon2	c.G625T	p.A209S	CQLNVLDNKKRTALIKAVQCQEDEC	CQLNVLDNKKRTSLIKAVQCQEDEC	10.0	3.0	-	-	4266_2:131981272-131981272 G>T_CQLNVLDNKKRTSLIKAVQCQEDEC
19:48997234-48997234 G>A	0.0	4266	COLON	-	-	-	-	LMTK3	NM_001080434,p.A1299V|ENST00000270238,p.A1299V|uc002pjk.3,p.A1299V|ENST00000600059,p.A1270V	protein_coding	uc002pjk.3	nonsynonymous SNV	exon13	c.C3896T	p.A1299V	AGAAGGEAGGAGAPGPAEEDGEDED	AGAAGGEAGGAGVPGPAEEDGEDED	4.0	7.0	-	-	4266_19:48997234-48997234 G>A_AGAAGGEAGGAGVPGPAEEDGEDED
19:53014911-53014911 C>A	0.0	4266	COLON	-	-	-	-	ZNF578	uc002pzp.4,p.P426H|ENST00000421239,p.P426H|NM_001099694,p.P426H	protein_coding, processed_transcript	uc002pzp.4	nonsynonymous SNV	exon6	c.C1277A	p.P426H	LSRHHRLHTGEKPYKCNDCGKAFIH	LSRHHRLHTGEKHYKCNDCGKAFIH	3.0	4.0	-	-	4266_19:53014911-53014911 C>A_LSRHHRLHTGEKHYKCNDCGKAFIH
12:75601594-75601594 G>A	0.0	4266	COLON	-	-	-	-	KCNC2	ENST00000341669,p.S57L|NM_001260497,p.S57L|ENST00000549446,p.S57L|ENST00000298972,p.S57L|uc001sxg.2,p.S57L|NM_153748,p.S57L|NM_139136,p.S57L|NM_001260499,p.S57L|ENST00000548513,p.S57L|ENST00000540018,p.S57L|ENST00000393288,p.S57L|ENST00000350228,p.S57L|uc009zry.4,p.S57L|NM_139137,p.S57L|uc031qif.1,p.S57L|ENST00000550433,p.S57L|uc010stw.2,p.S57L|uc001sxe.4,p.S57L|NM_001260498,p.S57L|uc001sxf.4,p.S57L	protein_coding, processed_transcript	uc031qif.1	nonsynonymous SNV	exon2	c.C170T	p.S57L	DCLTTAGDKLQPSPPPLSPPPRAPP	DCLTTAGDKLQPLPPPLSPPPRAPP	1.0	6.0	-	-	4266_12:75601594-75601594 G>A_DCLTTAGDKLQPLPPPLSPPPRAPP
7:4107534-4107534 G>T	0.0	4266	COLON	-	-	-	-	SDK1	NM_152744,p.W992C|uc010kso.3,p.W268C|ENST00000389531,p.W992C|uc003smx.3,p.W992C|ENST00000404826,p.W992C	retained_intron, protein_coding, processed_transcript	uc010kso.3	nonsynonymous SNV	exon6	c.G804T	p.W268C	FTEILDTSLKVSWQEPLEKNGIITG	FTEILDTSLKVSCQEPLEKNGIITG	5.0	4.0	-	-	4266_7:4107534-4107534 G>T_FTEILDTSLKVSCQEPLEKNGIITG
17:39388922-39388922 T>A	0.0	4266	COLON	-	-	-	-	KRTAP9-3	uc021txg.1,p.C57S|NM_031962,p.C57S|ENST00000411528,p.C57S	protein_coding	uc021txg.1	nonsynonymous SNV	exon1	c.T169A	p.C57S	PCCHPTCCQNTCCRTTCCQPICVTS	PCCHPTCCQNTCSRTTCCQPICVTS	1.0	6.0	-	-	4266_17:39388922-39388922 T>A_PCCHPTCCQNTCSRTTCCQPICVTS
2:131981272-131981272 G>T	0.0	4266	COLON	-	-	-	-	POTEE	ENST00000358087,p.A209S	protein_coding	ENST00000358087	nonsynonymous SNV	exon2	c.G625T	p.A209S	CQLNVLDNKKRTALIKVCSSQLYQH	CQLNVLDNKKRTSLIKVCSSQLYQH	10.0	3.0	-	-	4266_2:131981272-131981272 G>T_CQLNVLDNKKRTSLIKVCSSQLYQH
4:650058-650058 G>A	0.0	4266	COLON	-	-	-	-	PDE6B	NM_001145292,p.A83T|ENST00000255622,p.A362T|NM_001145291,p.A362T|uc003gao.4,p.A362T|ENST00000496514,p.A362T|NM_000283,p.A362T|uc003gap.3,p.A362T|uc011buy.2,p.A83T|ENST00000429163,p.A83T	retained_intron, protein_coding	uc011buy.2	nonsynonymous SNV	exon6	c.G247A	p.A83T	ESGFICNIMNASADEMFKFQEGALD	ESGFICNIMNASTDEMFKFQEGALD	5.0	6.0	-	-	4266_4:650058-650058 G>A_ESGFICNIMNASTDEMFKFQEGALD
3:192078301-192078301 T>C	0.0	4266	COLON	-	-	-	-	FGF12	ENST00000264730,p.R14G|ENST00000418610,p.R14G|ENST00000450716,p.R14G|NM_004113,p.R14G|ENST00000445105,p.R14G|uc003fsy.3,p.R14G	retained_intron, protein_coding, processed_transcript	uc003fsy.3	nonsynonymous SNV	exon3	c.A40G	p.R14G	ESKEPQLKGIVTRLFSQQGYFLQMH	ESKEPQLKGIVTGLFSQQGYFLQMH	4.0	3.0	-	-	4266_3:192078301-192078301 T>C_ESKEPQLKGIVTGLFSQQGYFLQMH
6:79735303-79735303 G>C	1.0	4266	COLON	-	-	-	-	PHIP	ENST00000275034,p.L286V|uc003pir.3,p.L286V|uc011dyp.2,p.L286V|NM_017934,p.L286V	protein_coding, processed_transcript	uc011dyp.2	nonsynonymous SNV	exon9	c.C856G	p.L286V	QFSPLCSGSKRYLSSTGADGTICFW	QFSPLCSGSKRYVSSTGADGTICFW	8.0	3.0	-	-	4266_6:79735303-79735303 G>C_QFSPLCSGSKRYVSSTGADGTICFW
12:41386938-41386938 ->GGAAATAT	0.0	4266	COLON	-	-	-	-	CNTN1	ENST00000551295,p.E660fs|uc031qgz.1,p.E649fs|ENST00000347616,p.E660fs|NM_001843,p.E660fs|ENST00000348761,p.E649fs|uc001rmm.2,p.E660fs|NM_175038,p.E649fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc031qgz.1	frameshift insertion	exon15	c.1947_1948insGGAAATAT	p.E649fs	DWKDAKTDPPIIEGNMEAARAVDLI	DWKDAKTDPPIIEGNMEIWRQQEQWT	3.0	8.0	-	-	4266_12:41386938-41386938 ->GGAAATAT_DWKDAKTDPPIIEGNMEIWRQQEQWT
6:110636575-110636575 C>T	0.0	4266	COLON	-	-	-	-	METTL24	ENST00000338882,p.R176H|NM_001123364,p.R176H|uc010kdu.1,p.R176H	protein_coding, processed_transcript	uc010kdu.1	nonsynonymous SNV	exon3	c.G527A	p.R176H	CLDDRFNLAHQIRNKQCRLYSLGLG	CLDDRFNLAHQIHNKQCRLYSLGLG	4.0	4.0	-	-	4266_6:110636575-110636575 C>T_CLDDRFNLAHQIHNKQCRLYSLGLG
X:9000386-9000386 T>A	0.0	4266	COLON	-	-	-	-	FAM9B	uc004csh.3,p.T94S|ENST00000362066,p.T94S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004csh.3	nonsynonymous SNV	exon2	c.A280T	p.T94S	GEREPFAETDEHTGANTKKPEDTAV	GEREPFAETDEHSGANTKKPEDTAV	1.0	3.0	-	-	4266_X:9000386-9000386 T>A_GEREPFAETDEHSGANTKKPEDTAV
X:9000386-9000386 T>A	0.0	4266	COLON	-	-	-	-	FAM9B	NM_205849,p.T49S|uc011mhu.2,p.T49S|ENST00000428477,p.T49S|ENST00000327220,p.T49S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011mhu.2	nonsynonymous SNV	exon2	c.A145T	p.T49S	GEREPFAETDEHTGANTKKPEDTAE	GEREPFAETDEHSGANTKKPEDTAE	1.0	3.0	unscreened	-	4266_X:9000386-9000386 T>A_GEREPFAETDEHSGANTKKPEDTAE
4:46086010-46086010 A>T	0.0	4266	COLON	-	-	-	-	GABRG1	uc003gxb.3,p.I105N|NM_173536,p.I105N|ENST00000295452,p.I105N	protein_coding	uc003gxb.3	nonsynonymous SNV	exon3	c.T314A	p.I105N	DVYVNSIGPVDPINMEYTIDIIFAQ	DVYVNSIGPVDPNNMEYTIDIIFAQ	1.0	7.0	-	-	4266_4:46086010-46086010 A>T_DVYVNSIGPVDPNNMEYTIDIIFAQ
2:107459646-107459646 G>A	0.0	4266	COLON	-	-	ID=COSM3701911,COSM3701912;OCCURENCE=1(liver)	-	ST6GAL2	NM_001142351,p.T263M|ENST00000361686,p.T263M|NM_032528,p.T263M|uc002tdr.3,p.T263M|ENST00000409382,p.T263M|ENST00000409087,p.T263M|NM_001142352,p.T263M|uc002tds.3,p.T263M|uc002tdq.3,p.T263M	protein_coding	uc002tds.3	nonsynonymous SNV	exon2	c.C788T	p.T263M	LLCQLRSRARVRTLDGTEAPFSALG	LLCQLRSRARVRMLDGTEAPFSALG	2.0	5.0	-	-	4266_2:107459646-107459646 G>A_LLCQLRSRARVRMLDGTEAPFSALG
2:187693087-187693087 G>T	0.0	4266	COLON	-	-	-	-	ZSWIM2	NM_182521,p.P509Q|uc002upu.1,p.P509Q|ENST00000295131,p.P509Q	protein_coding, nonsense_mediated_decay	uc002upu.1	nonsynonymous SNV	exon9	c.C1526A	p.P509Q	LQDLPTVSFGKIPSQTLLPPIVHKN	LQDLPTVSFGKIQSQTLLPPIVHKN	1.0	4.0	-	-	4266_2:187693087-187693087 G>T_LQDLPTVSFGKIQSQTLLPPIVHKN
12:41422961-41422961 G>T	0.0	4266	COLON	-	-	-	-	CNTN1	uc001rmm.2,p.V974L|ENST00000348761,p.V963L|uc031qgz.1,p.V963L|ENST00000347616,p.V974L|ENST00000551295,p.V974L|NM_001843,p.V974L|NM_175038,p.V963L|ENST00000548481,p.V16L	protein_coding, processed_transcript, nonsense_mediated_decay	uc031qgz.1	nonsynonymous SNV	exon21	c.G2887T	p.V963L	IEVPIPRDGEYVVEVRAHSDGGDGV	IEVPIPRDGEYVLEVRAHSDGGDGV	3.0	4.0	-	-	4266_12:41422961-41422961 G>T_IEVPIPRDGEYVLEVRAHSDGGDGV
3:192078301-192078301 T>C	0.0	4266	COLON	-	-	-	-	FGF12	uc003fsx.3,p.R76G|NM_021032,p.R76G|ENST00000454309,p.R76G	retained_intron, protein_coding, processed_transcript	uc003fsx.3	nonsynonymous SNV	exon2	c.A226G	p.R76G	RRPEPQLKGIVTRLFSQQGYFLQMH	RRPEPQLKGIVTGLFSQQGYFLQMH	4.0	3.0	-	-	4266_3:192078301-192078301 T>C_RRPEPQLKGIVTGLFSQQGYFLQMH
X:17771493-17771493 G>A	0.0	4266	COLON	-	-	-	-	SCML1	NM_001037536,p.G203E|NM_001037540,p.G324E|uc004cyb.3,p.G324E|ENST00000380041,p.G324E|uc004cyd.3,p.G203E|ENST00000380045,p.G203E|ENST00000380043,p.G297E|ENST00000398080,p.G203E|NM_006746,p.G297E|NM_001037535,p.G203E|uc004cye.3,p.G203E|uc004cyc.3,p.G297E	retained_intron, protein_coding	uc004cye.3	nonsynonymous SNV	exon6	c.G608A	p.G203E	VKLCYYIDRLKQGKCFEN	VKLCYYIDRLKQEKCFEN	5.0	7.0	-	-	4266_X:17771493-17771493 G>A_VKLCYYIDRLKQEKCFEN
X:85950066-85950066 C>A	0.0	4266	COLON	-	-	-	-	DACH2	ENST00000373125,p.P272Q|uc004eex.2,p.P259Q|NM_053281,p.P272Q|NM_001139514,p.P259Q|ENST00000373131,p.P259Q|uc011mra.1,p.P105Q|uc010nmq.2,p.P138Q|ENST00000508860,p.P105Q|ENST00000461604,p.P272Q|uc004eew.2,p.P272Q|ENST00000510272,p.P53Q|uc010nmr.2,p.P53Q|NM_001139515,p.P105Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc011mra.1	nonsynonymous SNV	exon5	c.C314A	p.P105Q	SESSWDKDKMQSPFAAPGPQHGIAH	SESSWDKDKMQSQFAAPGPQHGIAH	1.0	5.0	-	-	4266_X:85950066-85950066 C>A_SESSWDKDKMQSQFAAPGPQHGIAH
4:48887517-48887517 T>C	1.0	4266	COLON	-	-	-	-	OCIAD2	uc003gyt.3,p.Q150R|ENST00000508632,p.Q150R|NM_001014446,p.Q150R|NM_001286774,p.Q88R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gyt.3	nonsynonymous SNV	exon7	c.A449G	p.Q150R	KIKHGLSEKGDSQPSAS	KIKHGLSEKGDSRPSAS	10.0	6.0	-	-	4266_4:48887517-48887517 T>C_KIKHGLSEKGDSRPSAS
14:29261308-29261308 A>C	0.0	4266	COLON	-	rs34203558	-	-	LINC01551	ENST00000399387,p.K115N|uc001wqf.3,p.K115N	protein_coding, processed_transcript	uc001wqf.3	nonsynonymous SNV	exon3	c.A345C	p.K115N	HDVSPEKVTSALKKTNKQTTTINNF	HDVSPEKVTSALNKTNKQTTTINNF	1.0	4.0	unscreened	-	4266_14:29261308-29261308 A>C_HDVSPEKVTSALNKTNKQTTTINNF
14:100795800-100795800 G>A	0.0	4266	COLON	-	-	-	-	SLC25A47	uc001yhc.3,p.G249R|ENST00000557052,p.G103R|NM_207117,p.G249R|uc001yhd.3,p.G103R|ENST00000361529,p.G249R	protein_coding	uc001yhd.3	nonsynonymous SNV	exon6	c.G307A	p.G103R	PMDVIKSRLQADGQGQRRYRGLLHC	PMDVIKSRLQADRQGQRRYRGLLHC	4.0	7.0	-	-	4266_14:100795800-100795800 G>A_PMDVIKSRLQADRQGQRRYRGLLHC
14:104407890-104407890 A>T	0.0	4266	COLON	-	-	-	-	RD3L	uc031qqp.1,p.I48N|NM_001257268,p.I48N|ENST00000557640,p.I48N|ENST00000455348,p.I48N	protein_coding	uc031qqp.1	nonsynonymous SNV	exon2	c.T143A	p.I48N	WHLKERERLIQEIENEQKVKKTGVD	WHLKERERLIQENENEQKVKKTGVD	3.0	5.0	-	-	4266_14:104407890-104407890 A>T_WHLKERERLIQENENEQKVKKTGVD
5:122435364-122435364 C>T	0.0	4266	COLON	-	-	-	-	PRDM6	ENST00000407847,p.A203V|NM_001136239,p.A203V|uc003kti.3,p.A203V	protein_coding, processed_transcript, nonsense_mediated_decay	uc003kti.3	nonsynonymous SNV	exon3	c.C608T	p.A203V	HTSDPNNRCDMCADNRNGECPMHGP	HTSDPNNRCDMCVDNRNGECPMHGP	5.0	6.0	-	-	4266_5:122435364-122435364 C>T_HTSDPNNRCDMCVDNRNGECPMHGP
17:3493177-3493177 G>A	1.0	4275	COLON	-	-	-	-	TRPV1	uc010vrp.2,p.T323M|ENST00000571088,p.T323M|ENST00000174621,p.T321M|uc010vru.2,p.T323M|ENST00000425167,p.T323M|ENST00000399756,p.T323M|uc010vrs.2,p.T323M|uc010vrt.2,p.T323M|NM_080705,p.T323M|ENST00000310522,p.T323M|uc010vrr.2,p.T323M|uc010vro.2,p.T323M|ENST00000572705,p.T323M|NM_018727,p.T323M|ENST00000399759,p.T323M|NM_080704,p.T323M|NM_080706,p.T323M|ENST00000576351,p.T323M|uc010vrq.2,p.T321M	 protein_coding,retained_intron	uc010vru.2	nonsynonymous SNV	exon7	c.C968T	p.T323M	NEILMLGAKLHPTLKLEELTNKKGM	NEILMLGAKLHPMLKLEELTNKKGM	7.0	2.0	-	-	4275_17:3493177-3493177 G>A_NEILMLGAKLHPMLKLEELTNKKGM
2:190322055-190322055 G>A	1.0	4275	COLON	-	-	-	-	WDR75	ENST00000314761,p.V173I|uc002uql.1,p.V173I|NM_032168,p.V173I|uc002uqm.1,p.V109I	retained_intron, protein_coding, nonsense_mediated_decay	uc002uqm.1	nonsynonymous SNV	exon7	c.G325A	p.V109I	IAFGNEGVYVAAVREFYLSVYFFKK	IAFGNEGVYVAAIREFYLSVYFFKK	8.0	4.0	-	-	4275_2:190322055-190322055 G>A_IAFGNEGVYVAAIREFYLSVYFFKK
13:33017202-33017202 C>A	1.0	4275	COLON	-	-	-	-	N4BP2L2	uc001uug.2,p.R374M|ENST00000357505,p.R476M|ENST00000504114,p.R476M|uc010abd.1,p.R404M|uc001uuh.2,p.R322M|ENST00000399396,p.R491M|uc010tdz.1,p.R476M|NM_033111,p.R491M|uc010abe.1,p.R491M|NM_001278432,p.R476M	retained_intron, protein_coding, processed_transcript	uc010tdz.1	nonsynonymous SNV	exon7	c.G1427T	p.R476M	LESTKNKKRRKKRIFNLVPNFDLLG	LESTKNKKRRKKMIFNLVPNFDLLG	9.0	3.0	-	-	4275_13:33017202-33017202 C>A_LESTKNKKRRKKMIFNLVPNFDLLG
14:61434955-61434971 ACCATGTCAGAGCTGCC>-	1.0	4275	COLON	-	-	-	-	MNAT1	ENST00000539616,p.N231fs|NM_002431,p.N273fs|ENST00000261245,p.N273fs|uc001xfd.3,p.N273fs|uc001xfe.3,p.N231fs|NM_001177963,p.N231fs|ENST00000557134,p.N133fs	retained_intron, protein_coding, processed_transcript	uc001xfe.3	frameshift deletion	exon7	c.692_708del	p.N231fs	PELEMLGRLGYLNHVRAASPQDLAG	PELEMLGRLGYLITTGPCWRLYFFSCLSQSTTGCIQWAFLAAQL	8.0	2.0	unscreened	-	4275_14:61434955-61434971 ACCATGTCAGAGCTGCC>-_PELEMLGRLGYLITTGPCWRLYFFSCLSQSTTGCIQWAFLAAQL
22:26892207-26892207 C>T	1.0	4275	COLON	-	-	-	-	TFIP11	ENST00000405938,p.A561T|NM_001008697,p.A561T|uc003act.2,p.A561T|uc003acr.2,p.A561T|ENST00000407431,p.A561T|ENST00000407690,p.A561T|ENST00000407148,p.A561T|NM_012143,p.A561T|uc003acs.2,p.A561T	retained_intron, protein_coding, processed_transcript	uc003act.2	nonsynonymous SNV	exon12	c.G1681A	p.A561T	HSWIHPWLPLMQARLEPLYSPIRSK	HSWIHPWLPLMQTRLEPLYSPIRSK	9.0	4.0	-	-	4275_22:26892207-26892207 C>T_HSWIHPWLPLMQTRLEPLYSPIRSK
10:114917814-114917814 ->G	1.0	4275	COLON	-	-	-	1	TCF7L2	uc010qrn.2,p.P378fs|NM_001146286,p.P412fs|ENST00000369389,p.P146fs|ENST00000355717,p.P459fs|uc021pyl.1,p.P417fs|NM_001198530,p.P378fs|uc001lag.4,p.P459fs|NM_001146283,p.P459fs|NM_001198531,p.P435fs|uc010qro.2,p.P412fs|uc021pym.1,p.P408fs|uc010qrm.2,p.P435fs|uc021pyp.1,p.P431fs|uc021pyo.1,p.P440fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc021pyp.1	frameshift insertion	exon12	c.1293dupG	p.P431fs	YGKKKKRKRDKQPGETNGEKKSAFA	YGKKKKRKRDKQPGRDQWRKKKCVRYIQGEGSCLSPPSSDGSLL	9.0	4.0	unscreened	-	4275_10:114917814-114917814 ->G_YGKKKKRKRDKQPGRDQWRKKKCVRYIQGEGSCLSPPSSDGSLL
19:39663943-39663943 C>T	1.0	4275	COLON	-	-	-	-	PAK4	ENST00000435673,p.A197V|ENST00000360442,p.A197V|NM_001014832,p.A197V|ENST00000358301,p.A197V|uc002okl.1,p.A197V|ENST00000593690,p.A197V|uc002okj.1,p.A197V|uc002okn.1,p.A197V|NM_001014831,p.A197V|NM_005884,p.A197V	retained_intron, protein_coding, processed_transcript	uc002okn.1	nonsynonymous SNV	exon3	c.C590T	p.A197V	VGTPQPAGLASGAKLAAGRPFNTYP	VGTPQPAGLASGVKLAAGRPFNTYP	9.0	8.0	-	-	4275_19:39663943-39663943 C>T_VGTPQPAGLASGVKLAAGRPFNTYP
9:116835232-116835232 C>A	1.0	4275	COLON	-	-	-	-	AMBP	ENST00000265132,p.D177Y|NM_001633,p.D177Y|uc011lxk.2,p.D118Y|ENST00000466610,p.D68Y|uc004bie.4,p.D177Y	protein_coding, processed_transcript	uc011lxk.2	nonsynonymous SNV	exon5	c.G352T	p.D118Y	FRVVAQGVGIPEDSIFTMADRGECV	FRVVAQGVGIPEYSIFTMADRGECV	5.0	9.0	-	-	4275_9:116835232-116835232 C>A_FRVVAQGVGIPEYSIFTMADRGECV
9:116835232-116835232 C>A	1.0	4275	COLON	-	-	-	-	AMBP	ENST00000603230,p.D177Y	protein_coding, processed_transcript	ENST00000603230	nonsynonymous SNV	exon5	c.G529T	p.D177Y	FRVVAQGVGIPEDSIFTMADRVNGL	FRVVAQGVGIPEYSIFTMADRVNGL	5.0	9.0	-	-	4275_9:116835232-116835232 C>A_FRVVAQGVGIPEYSIFTMADRVNGL
17:1557072-1557072 ->GACC	1.0	4275	COLON	-	-	-	-	PRPF8	ENST00000304992,p.R2076fs|NM_006445,p.R2076fs|ENST00000572621,p.R2076fs|uc002fte.3,p.R2076fs	retained_intron, protein_coding, processed_transcript	uc002fte.3	frameshift insertion	exon38	c.6225_6226insGGTC	p.R2076fs	TQTFSSKTEWRVRAISAANLHLRTN	TQTFSSKTEWRVGQGHLCCQPAPKDQSHLCFI	10.0	2.0	-	-	4275_17:1557072-1557072 ->GACC_TQTFSSKTEWRVGQGHLCCQPAPKDQSHLCFI
1:236189262-236189262 C>T	0.0	4275	COLON	-	-	-	-	NID1	ENST00000366595,p.V640I|ENST00000264187,p.V640I|uc009xgd.3,p.V640I|uc001hxo.3,p.V640I|NM_002508,p.V640I	protein_coding	uc009xgd.3	nonsynonymous SNV	exon8	c.G1918A	p.V640I	PSTQQLSVDSVFVLYNQEEKILRYA	PSTQQLSVDSVFILYNQEEKILRYA	6.0	5.0	-	-	4275_1:236189262-236189262 C>T_PSTQQLSVDSVFILYNQEEKILRYA
5:112174485-112174485 A>-	1.0	4275	COLON	-	-	-	1	APC	uc003kpz.4,p.Q1065fs|uc010jbz.3,p.Q782fs|ENST00000508376,p.Q1065fs|ENST00000512211,p.Q1065fs|uc011cvt.2,p.Q1047fs|uc003kpy.4,p.Q1065fs|NM_001127510,p.Q1065fs|ENST00000257430,p.Q1065fs|ENST00000457016,p.Q1065fs|uc010jca.3,p.Q365fs|NM_000038,p.Q1065fs|NM_001127511,p.Q1047fs|ENST00000507379,p.Q1047fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cvt.2	frameshift deletion	exon14	c.3140delA	p.Q1047fs	KHIIEDEIKQSEQRQSRNQSTTYPV	KHIIEDEIKQSEQDNQGIKVQLILFILRALMINTSSSNHILDSRNVFLHTGHGEPMVQKQIEWVLIMELIKM	8.0	6.0	-	-	4275_5:112174485-112174485 A>-_KHIIEDEIKQSEQDNQGIKVQLILFILRALMINTSSSNHILDSRNVFLHTGHGEPMVQKQIEWVLIMELIKM
20:37547185-37547185 C>T	0.0	4275	COLON	-	-	-	-	PPP1R16B	uc002xje.3,p.P527L|ENST00000299824,p.P527L|NM_015568,p.P527L|ENST00000373331,p.P485L|uc010ggc.3,p.P485L|NM_001172735,p.P485L	protein_coding, processed_transcript	uc010ggc.3	nonsynonymous SNV	exon10	c.C1454T	p.P485L	EGKAPLIGGRTSPYSSNGTSVYYTV	EGKAPLIGGRTSLYSSNGTSVYYTV	5.0	3.0	-	-	4275_20:37547185-37547185 C>T_EGKAPLIGGRTSLYSSNGTSVYYTV
14:77242408-77242408 C>T	0.0	4275	COLON	-	-	ID=COSM3690210;OCCURENCE=1(breast),1(large_intestine)	-	VASH1	ENST00000167106,p.T235M|NM_014909,p.T235M|uc001xst.2,p.T235M	protein_coding, processed_transcript, nonsense_mediated_decay	uc001xst.2	nonsynonymous SNV	exon5	c.C704T	p.T235M	REDLMYKPPAFRTLSELVLDFEAAY	REDLMYKPPAFRMLSELVLDFEAAY	6.0	1.0	-	-	4275_14:77242408-77242408 C>T_REDLMYKPPAFRMLSELVLDFEAAY
14:65055964-65055964 C>T	1.0	4275	COLON	-	-	-	-	PPP1R36	ENST00000298705,p.P393S|NM_172365,p.P393S|uc001xhm.1,p.P123S|uc001xhl.1,p.P393S	retained_intron, protein_coding, nonsense_mediated_decay	uc001xhm.1	nonsynonymous SNV	exon3	c.C367T	p.P123S	DPEENTKSFGRYPSLMENNNMRIQD	DPEENTKSFGRYSSLMENNNMRIQD	6.0	9.0	-	-	4275_14:65055964-65055964 C>T_DPEENTKSFGRYSSLMENNNMRIQD
16:30012148-30012148 C>T	1.0	4275	COLON	-	-	-	-	INO80E	ENST00000304516,p.A92V|ENST00000567254,p.A92V|ENST00000562441,p.A92V|ENST00000563197,p.A92V|ENST00000567065,p.A92V|uc002dvg.1,p.A92V|NM_173618,p.A92V|ENST00000567705,p.A92V|ENST00000567987,p.A92V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dvg.1	nonsynonymous SNV	exon4	c.C275T	p.A92V	ETEGTPKLSDTPAPKRKRSPPLGGA	ETEGTPKLSDTPVPKRKRSPPLGGA	10.0	2.0	-	-	4275_16:30012148-30012148 C>T_ETEGTPKLSDTPVPKRKRSPPLGGA
15:40558283-40558283 G>-	0.0	4275	COLON	-	-	-	-	PAK6	uc001zky.4,p.G149fs|ENST00000560346,p.G149fs|ENST00000453867,p.G149fs|ENST00000455577,p.G149fs|NM_001276718,p.G149fs|uc001zlb.3,p.G149fs|uc010bbn.4,p.G149fs|NM_001128629,p.G149fs|NM_020168,p.G149fs|NM_001128628,p.G149fs|NM_001276717,p.G149fs|uc010bbl.3,p.G149fs|uc010bbm.3,p.G149fs|ENST00000441369,p.G149fs|ENST00000260404,p.G149fs|ENST00000542403,p.G149fs|ENST00000560669,p.G149fs	retained_intron, protein_coding, processed_transcript	uc010bbn.4	frameshift deletion	exon5	c.445delG	p.G149fs	RTDPHGLYLSCNGGTPAGHKQMPWP	RTDPHGLYLSCNGAHQQATSRCRGPSHRAHGSCPMGWLQRHSPWAPPSFRVPRSAVCSWVPACRAPHQEPRPPRAPIGME	6.0	9.0	-	-	4275_15:40558283-40558283 G>-_RTDPHGLYLSCNGAHQQATSRCRGPSHRAHGSCPMGWLQRHSPWAPPSFRVPRSAVCSWVPACRAPHQEPRPPRAPIGME
13:46705031-46705031 C>T	1.0	4275	COLON	-	-	ID=COSM1367071;OCCURENCE=1(large_intestine)	2	LCP1	NM_002298,p.D557N|uc010ack.3,p.D126N|uc001vaz.4,p.D557N|ENST00000323076,p.D557N|uc001vba.4,p.D557N|uc001vay.4,p.D154N|ENST00000398576,p.D557N|ENST00000435666,p.D126N	protein_coding, processed_transcript	uc010ack.3	nonsynonymous SNV	exon4	c.G376A	p.D126N	KISTSLPVLDLIDAIQPGSINYDLL	KISTSLPVLDLINAIQPGSINYDLL	10.0	3.0	-	-	4275_13:46705031-46705031 C>T_KISTSLPVLDLINAIQPGSINYDLL
17:42476350-42476350 C>T	1.0	4275	COLON	-	-	-	-	GPATCH8	NM_001002909,p.R1032H|uc002igw.2,p.R1032H|uc002igv.2,p.R954H|uc010wiz.2,p.R954H|ENST00000591680,p.R1032H|ENST00000434000,p.R954H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wiz.2	nonsynonymous SNV	exon9	c.G2861A	p.R954H	SGRRDFIRSKIYRSQSPHYFRSGRG	SGRRDFIRSKIYHSQSPHYFRSGRG	10.0	5.0	CD8	-	4275_17:42476350-42476350 C>T_SGRRDFIRSKIYHSQSPHYFRSGRG
11:57367676-57367676 C>T	0.0	4275	COLON	-	-	-	-	SERPING1	ENST00000405496,p.P126S|uc010rjv.1,p.P131S|ENST00000278407,p.P126S|uc001nkr.1,p.P126S|NM_001032295,p.P126S|NM_000062,p.P126S|uc001nkp.1,p.P126S|ENST00000378324,p.P74S|ENST00000378323,p.P131S|ENST00000340687,p.P126S|uc010rju.1,p.P74S|ENST00000403558,p.P160S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rjv.1	nonsynonymous SNV	exon3	c.C391T	p.P131S	PTQPTTGSFCPGPVTLCSDLESHST	PTQPTTGSFCPGSVTLCSDLESHST	10.0	3.0	-	-	4275_11:57367676-57367676 C>T_PTQPTTGSFCPGSVTLCSDLESHST
20:62324567-62324567 G>A	1.0	4275	COLON	-	-	-	-	RTEL1	NM_032957,p.G999S|ENST00000318100,p.G975S|ENST00000370003,p.G220S|ENST00000360203,p.G975S|ENST00000370018,p.G975S|uc002yfx.1,p.G220S|uc011abe.1,p.G752S|ENST00000496816,p.G268S|uc011abd.2,p.G999S|NM_001283009,p.G975S|uc002yfu.2,p.G975S|ENST00000508582,p.G999S|NM_001283010,p.G752S|ENST00000482936,p.G975S|NM_016434,p.G975S	 processed_transcript,protein_coding, nonsense_mediated_decay	uc011abe.1	nonsynonymous SNV	exon29	c.G2254A	p.G752S	QFEEVCIQLTGRGCGYRPEHSIPRR	QFEEVCIQLTGRSCGYRPEHSIPRR	9.0	10.0	-	-	4275_20:62324567-62324567 G>A_QFEEVCIQLTGRSCGYRPEHSIPRR
8:109498792-109498792 G>A	1.0	4275	COLON	-	-	-	-	EMC2	uc003ymw.1,p.D287N|NM_014673,p.D287N|ENST00000220853,p.D287N	retained_intron, protein_coding, processed_transcript	uc003ymw.1	nonsynonymous SNV	exon11	c.G859A	p.D287N	KKETKYSLKAVEDMLETLQITQS	KKETKYSLKAVENMLETLQITQS	9.0	7.0	-	-	4275_8:109498792-109498792 G>A_KKETKYSLKAVENMLETLQITQS
12:25398284-25398284 C>A	1.0	4275	COLON	-	-	ID=COSM1140133,COSM520;OCCURENCE=24(skin),10(breast),24(small_intestine),17(urinary_tract),2(genital_tract),2(kidney),1(eye),5(liver),1402(pancreas),39(prostate),110(biliary_tract),4060(large_intestine),1(autonomic_ganglia),245(ovary),4(soft_tissue),102(endometrium),13(thyroid),13(peritoneum),878(lung),6(testis),8(cervix),36(haematopoietic_and_lymphoid_tissue),2(pleura),9(gastrointestinal_tract_(site_indeterminate)),1(central_nervous_system),32(stomach),2(thymus),3(upper_aerodigestive_tract),4(oesophagus)	1	KRAS	NM_033360,p.G12V|NM_004985,p.G12V|ENST00000557334,p.G12V|uc001rgq.1,p.G12V|uc001rgp.1,p.G12V|ENST00000256078,p.G12V|ENST00000556131,p.G12V|ENST00000311936,p.G12V	protein_coding	uc001rgq.1	nonsynonymous SNV	exon2	c.G35T	p.G12V	MTEYKLVVVGAGGVGKSALTIQLI	MTEYKLVVVGAVGVGKSALTIQLI	7.0	8.0	-	-	4275_12:25398284-25398284 C>A_MTEYKLVVVGAVGVGKSALTIQLI
3:48658950-48658950 C>A	1.0	4275	COLON	-	-	-	-	TMEM89	NM_001008269,p.M80I|uc011bbo.2,p.M80I|ENST00000330862,p.M80I	protein_coding	uc011bbo.2	nonsynonymous SNV	exon1	c.G240T	p.M80I	PVAAVMITTTMLMICRKILQGRRRS	PVAAVMITTTMLIICRKILQGRRRS	5.0	9.0	-	-	4275_3:48658950-48658950 C>A_PVAAVMITTTMLIICRKILQGRRRS
7:143556243-143556243 C>A	0.0	4275	COLON	-	-	-	-	FAM115A	ENST00000355951,p.A727S|uc011ktu.2,p.A303S|ENST00000479870,p.A727S|uc003wdo.2,p.A727S|NM_001206941,p.A303S|NM_014719,p.A727S|NM_001206938,p.A727S|uc003wdp.2,p.A727S	protein_coding, processed_transcript	uc011ktu.2	nonsynonymous SNV	exon6	c.G907T	p.A303S	VADVQISVGWMHAGYPIMCHLESVQ	VADVQISVGWMHSGYPIMCHLESVQ	9.0	2.0	-	-	4275_7:143556243-143556243 C>A_VADVQISVGWMHSGYPIMCHLESVQ
18:907749-907749 C>T	0.0	4275	COLON	-	-	-	-	ADCYAP1	uc010dkg.3,p.A67V|NM_001099733,p.A67V|NM_001117,p.A67V|ENST00000579794,p.A67V|ENST00000450565,p.A67V|uc010dkh.4,p.A67V	retained_intron, protein_coding	uc010dkh.4	nonsynonymous SNV	exon2	c.C200T	p.A67V	GSEPPGAGSPASAPRAAAAWYRPAG	GSEPPGAGSPASVPRAAAAWYRPAG	2.0	10.0	-	-	4275_18:907749-907749 C>T_GSEPPGAGSPASVPRAAAAWYRPAG
2:1500456-1500456 C>T	0.0	4275	COLON	0.01	-	ID=COSM3694892,COSM3694893;OCCURENCE=1(pancreas),1(large_intestine)	-	TPO	uc002qwy.1,p.R109W|NM_175719,p.R712W|NM_175721,p.R769W|uc002qwu.3,p.R712W|ENST00000349624,p.R596W|uc010yip.2,p.R769W|ENST00000469607,p.R243W|NM_001206745,p.R712W|uc002qwx.3,p.R712W|ENST00000346956,p.R769W|uc010yio.2,p.R596W|ENST00000382201,p.R712W|NM_001206744,p.R769W|NM_175722,p.R596W|ENST00000422464,p.R698W|ENST00000382198,p.R596W|ENST00000345913,p.R769W|uc002qww.3,p.R769W|uc002qwr.3,p.R769W|ENST00000329066,p.R769W|NM_000547,p.R769W|ENST00000337415,p.R769W	protein_coding, processed_transcript	uc010yip.2	nonsynonymous SNV	exon12	c.C2305T	p.R769W	EESGRRVLVYSCRHGYELQGREQLT	EESGRRVLVYSCWHGYELQGREQLT	1.0	5.0	-	-	4275_2:1500456-1500456 C>T_EESGRRVLVYSCWHGYELQGREQLT
6:166827413-166827413 C>T	1.0	4275	COLON	-	-	-	-	RPS6KA2	ENST00000510118,p.V674M|ENST00000481261,p.V560M|NM_001006932,p.V657M|uc003qvc.1,p.V657M|ENST00000405189,p.V560M|ENST00000503859,p.V657M|uc003qvd.1,p.V674M|uc003qvb.1,p.V649M|uc011ego.1,p.V560M|uc010kkl.1,p.V560M|ENST00000265678,p.V649M|uc010kkk.1,p.V81M|NM_021135,p.V649M	protein_coding, processed_transcript	uc011ego.1	nonsynonymous SNV	exon20	c.G1678A	p.V560M	NWDSISDAAKDVVSKMLHVDPHQRL	NWDSISDAAKDVMSKMLHVDPHQRL	9.0	3.0	-	-	4275_6:166827413-166827413 C>T_NWDSISDAAKDVMSKMLHVDPHQRL
5:50111353-50111353 G>A	1.0	4275	COLON	-	-	-	-	PARP8	ENST00000505697,p.A555T|ENST00000505554,p.A534T|uc003joo.3,p.A555T|NM_001178055,p.A555T|NM_024615,p.A555T|ENST00000281631,p.A555T|uc003jon.4,p.A555T|uc011cpz.2,p.A447T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cpz.2	nonsynonymous SNV	exon14	c.G1339A	p.A447T	VMNEAADEIATGAQVVDLLVSMCRS	VMNEAADEIATGTQVVDLLVSMCRS	9.0	5.0	-	-	4275_5:50111353-50111353 G>A_VMNEAADEIATGTQVVDLLVSMCRS
2:99012481-99012481 G>A	0.0	4275	COLON	-	-	ID=COSM1580002;OCCURENCE=1(central_nervous_system)	-	CNGA3	ENST00000393504,p.R283Q|ENST00000436404,p.R265Q|NM_001298,p.R283Q|uc002syu.3,p.R265Q|uc002syt.3,p.R283Q|NM_001079878,p.R265Q|ENST00000272602,p.R283Q|uc010fij.3,p.R287Q|ENST00000409937,p.R287Q	retained_intron, protein_coding	uc010fij.3	nonsynonymous SNV	exon8	c.G860A	p.R287Q	PEVRFNRLLKFSRLFEFFDRTETRT	PEVRFNRLLKFSQLFEFFDRTETRT	1.0	8.0	-	-	4275_2:99012481-99012481 G>A_PEVRFNRLLKFSQLFEFFDRTETRT
13:39261510-39261510 C>T	0.0	4275	COLON	-	-	-	-	FREM2	NM_207361,p.S10F|ENST00000280481,p.S10F|uc001uwv.3,p.S10F	protein_coding, processed_transcript	uc001uwv.3	nonsynonymous SNV	exon1	c.C29T	p.S10F	MHSAGTPGLSSRRTGNSTSFQP	MHSAGTPGLFSRRTGNSTSFQP	7.0	10.0	-	-	4275_13:39261510-39261510 C>T_MHSAGTPGLFSRRTGNSTSFQP
17:66878094-66878094 G>A	0.0	4275	COLON	-	-	-	-	ABCA8	NM_001288985,p.R1286C|ENST00000430352,p.R1286C|uc002jhp.3,p.R1246C|NM_001288986,p.R1281C|ENST00000586539,p.R1286C|ENST00000269080,p.R1246C|uc002jhq.3,p.R1286C|uc010wqq.2,p.R1281C|NM_007168,p.R1246C	retained_intron, protein_coding, non_stop_decay	uc010wqq.2	nonsynonymous SNV	exon30	c.C3841T	p.R1281C	FDEKPVIIASCLRKEYAGKRKGCFS	FDEKPVIIASCLCKEYAGKRKGCFS	8.0	7.0	-	-	4275_17:66878094-66878094 G>A_FDEKPVIIASCLCKEYAGKRKGCFS
4:159092143-159092143 G>A	1.0	4275	COLON	-	-	-	-	FAM198B	NM_001128424,p.R129C|NM_016613,p.R129C|NM_001031700,p.R129C|uc003ipr.4,p.R129C|uc003ipq.4,p.R129C|ENST00000393807,p.R129C|ENST00000585682,p.R129C|uc003ips.3,p.R129C|uc003ipp.4,p.R129C|ENST00000296530,p.R129C|ENST00000592057,p.R129C	protein_coding, processed_transcript	uc003ips.3	nonsynonymous SNV	exon2	c.C385T	p.R129C	KPANIRGTVKPKRRKKHAVASAAPG	KPANIRGTVKPKCRKKHAVASAAPG	8.0	6.0	-	-	4275_4:159092143-159092143 G>A_KPANIRGTVKPKCRKKHAVASAAPG
19:1805954-1805954 C>T	0.0	4275	COLON	-	-	-	-	ATP8B3	NM_001178002,p.D199N|uc002ltz.2,p.D199N|ENST00000539485,p.D252N|NM_138813,p.D252N|ENST00000526092,p.D199N|uc002ltw.4,p.D252N|uc002ltv.4,p.D199N|ENST00000310127,p.D252N|ENST00000525591,p.D199N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ltz.2	nonsynonymous SNV	exon9	c.G595A	p.D199N	VVCLRKDNIVPADMLLLASTEPSSL	VVCLRKDNIVPANMLLLASTEPSSL	5.0	7.0	-	-	4275_19:1805954-1805954 C>T_VVCLRKDNIVPANMLLLASTEPSSL
9:35556365-35556365 C>T	1.0	4275	COLON	0.0014	-	ID=COSM1195986;OCCURENCE=1(lung)	-	RUSC2	uc003zww.3,p.T968M|ENST00000361226,p.T968M|NM_014806,p.T968M|NM_001135999,p.T968M|ENST00000455600,p.T968M|uc003zwx.4,p.T968M	protein_coding, processed_transcript	uc003zwx.4	nonsynonymous SNV	exon5	c.C2903T	p.T968M	LTCPDFQDPFSLTEKPPAEFCLSPD	LTCPDFQDPFSLMEKPPAEFCLSPD	6.0	5.0	-	-	4275_9:35556365-35556365 C>T_LTCPDFQDPFSLMEKPPAEFCLSPD
8:125570991-125570991 G>A	0.0	4275	COLON	-	-	-	-	MTSS1	uc003yrj.2,p.S373L|uc011lin.1,p.S107L|ENST00000378017,p.S373L|NM_001282974,p.S373L|ENST00000395508,p.S107L	retained_intron, protein_coding, processed_transcript	uc011lin.1	nonsynonymous SNV	exon3	c.C320T	p.S107L	SVSECSSPTSVSSGSTMGAWVSTEK	SVSECSSPTSVSLGSTMGAWVSTEK	9.0	8.0	-	-	4275_8:125570991-125570991 G>A_SVSECSSPTSVSLGSTMGAWVSTEK
5:140559611-140559611 G>A	0.0	4275	COLON	-	-	-	-	PCDHB8	ENST00000239444,p.G666S|NM_019120,p.G666S|uc011dai.2,p.G666S	protein_coding	uc011dai.2	nonsynonymous SNV	exon1	c.G1996A	p.G666S	SATATLHLLLVDGFSQPYLPLPEAA	SATATLHLLLVDSFSQPYLPLPEAA	5.0	7.0	-	-	4275_5:140559611-140559611 G>A_SATATLHLLLVDSFSQPYLPLPEAA
20:4228802-4228802 G>A	0.0	4275	COLON	-	-	-	-	ADRA1D	ENST00000379453,p.A268V|NM_000678,p.A268V|uc002wkr.2,p.A268V	protein_coding	uc002wkr.2	nonsynonymous SNV	exon1	c.C803T	p.A268V	VFSSVCSFYLPMAVIVVMYCRVYVV	VFSSVCSFYLPMVVIVVMYCRVYVV	1.0	8.0	-	-	4275_20:4228802-4228802 G>A_VFSSVCSFYLPMVVIVVMYCRVYVV
21:46930002-46930002 C>A	0.0	4275	COLON	-	-	-	-	COL18A1	ENST00000355480,p.P1354T|ENST00000400337,p.P1174T|NM_130445,p.P1171T|NM_030582,p.P1351T|ENST00000359759,p.P1589T|ENST00000342220,p.P522T|uc002zhj.3,p.P152T	retained_intron, protein_coding, processed_transcript	uc002zhj.3	nonsynonymous SNV	exon7	c.C454A	p.P152T	FQPVLHLVALNSPLSGGMRGIRGAD	FQPVLHLVALNSTLSGGMRGIRGAD	8.0	6.0	-	-	4275_21:46930002-46930002 C>A_FQPVLHLVALNSTLSGGMRGIRGAD
22:30735175-30735175 C>T	1.0	4275	COLON	-	-	-	-	SF3A1	uc021wnt.1,p.E416K|NM_005877,p.E481K|ENST00000215793,p.E481K|ENST00000439242,p.E416K|uc003ahl.3,p.E481K	retained_intron, protein_coding, nonsense_mediated_decay	uc021wnt.1	nonsynonymous SNV	exon10	c.G1246A	p.E416K	LAERRTDIFGVEETAIGKKIGEEEI	LAERRTDIFGVEKTAIGKKIGEEEI	10.0	1.0	-	-	4275_22:30735175-30735175 C>T_LAERRTDIFGVEKTAIGKKIGEEEI
1:1159230-1159230 C>T	1.0	4275	COLON	0.0005	-	-	-	SDF4	uc001adi.4,p.V149M|NM_016176,p.V149M|uc001adh.4,p.V149M|ENST00000360001,p.V149M|ENST00000465727,p.V149M|NM_016547,p.V149M|ENST00000545427,p.V149M|ENST00000263741,p.V149M|uc001adj.1,p.V27M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001adj.1	nonsynonymous SNV	exon1	c.G79A	p.V27M	EAMEESKTHFRAVDPDGDGHVSWDE	EAMEESKTHFRAMDPDGDGHVSWDE	9.0	9.0	-	-	4275_1:1159230-1159230 C>T_EAMEESKTHFRAMDPDGDGHVSWDE
X:113965801-113965801 G>A	0.0	4275	COLON	-	-	-	-	HTR2C	ENST00000371951,p.R45H|ENST00000276198,p.R45H|NM_001256760,p.R45H|uc004epv.1,p.R45H|ENST00000371950,p.R45H|uc004epu.1,p.R45H|uc010nqc.1,p.R45H|NM_000868,p.R45H|NM_001256761,p.R45H	protein_coding	uc010nqc.1	nonsynonymous SNV	exon5	c.G134A	p.R45H	IVTDIFNTSDGGRFKFPDGVQNWPA	IVTDIFNTSDGGHFKFPDGVQNWPA	1.0	10.0	-	-	4275_X:113965801-113965801 G>A_IVTDIFNTSDGGHFKFPDGVQNWPA
2:179534397-179534397 C>T	0.0	4275	COLON	-	-	-	-	TTN	NM_001267550,p.E11798K|uc031rqc.1,p.E11798K|ENST00000589042,p.E11798K	retained_intron, protein_coding	uc031rqc.1	nonsynonymous SNV	exon158	c.G35392A	p.E11798K	PEEPRVPPTKAPEVPKKIVPEEKVR	PEEPRVPPTKAPKVPKKIVPEEKVR	7.0	7.0	-	-	4275_2:179534397-179534397 C>T_PEEPRVPPTKAPKVPKKIVPEEKVR
1:248551399-248551399 A>C	0.0	4275	COLON	-	-	-	-	OR2T6	NM_001005471,p.M164L|uc001iei.1,p.M164L|ENST00000355728,p.M164L	protein_coding	uc001iei.1	nonsynonymous SNV	exon1	c.A490C	p.M164L	GALDSFLLTPITMSLPFCASHQINH	GALDSFLLTPITLSLPFCASHQINH	1.0	8.0	-	-	4275_1:248551399-248551399 A>C_GALDSFLLTPITLSLPFCASHQINH
2:131098607-131098607 G>A	1.0	4275	COLON	-	-	-	-	CCDC115	ENST00000442217,p.R102W|uc002tqy.1,p.R102W|ENST00000409127,p.R97W|ENST00000437688,p.R97W|uc010zaf.1,p.R97W|NM_032357,p.R102W|ENST00000259229,p.R102W	retained_intron, protein_coding, nonsense_mediated_decay	uc010zaf.1	nonsynonymous SNV	exon4	c.C289T	p.R97W	APEEVGPREAGLRRRKGPTKTPEPE	APEEVGPREAGLWRRKGPTKTPEPE	7.0	3.0	-	-	4275_2:131098607-131098607 G>A_APEEVGPREAGLWRRKGPTKTPEPE
22:30735202-30735202 G>A	0.0	4275	COLON	-	-	ID=COSM1415709;OCCURENCE=1(large_intestine)	-	SF3A1	uc003ahl.3,p.R472W|ENST00000215793,p.R472W|uc021wnt.1,p.R407W|NM_005877,p.R472W|ENST00000439242,p.R407W	retained_intron, protein_coding, nonsense_mediated_decay	uc021wnt.1	nonsynonymous SNV	exon10	c.C1219T	p.R407W	LDIESSLKQLAERRTDIFGVEETAI	LDIESSLKQLAEWRTDIFGVEETAI	10.0	1.0	-	-	4275_22:30735202-30735202 G>A_LDIESSLKQLAEWRTDIFGVEETAI
14:52433353-52433353 C>T	0.0	4275	COLON	0.0005	-	ID=COSM123400;OCCURENCE=1(lung),1(central_nervous_system),1(upper_aerodigestive_tract)	-	GNG2	uc001wzi.3,p.P55L|ENST00000555472,p.P55L|uc021rte.1,p.P55L|NM_001243773,p.P55L|uc001wzk.3,p.P55L|ENST00000556766,p.P55L|ENST00000554736,p.P55L|uc001wzj.3,p.P55L|ENST00000553432,p.P86L|NM_053064,p.P55L|ENST00000556752,p.P55L|ENST00000557376,p.P94L|ENST00000335281,p.P55L|NM_001243774,p.P55L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021rte.1	nonsynonymous SNV	exon4	c.C164T	p.P55L	AHAKEDPLLTPVPASENPFREKKFF	AHAKEDPLLTPVLASENPFREKKFF	6.0	6.0	-	-	4275_14:52433353-52433353 C>T_AHAKEDPLLTPVLASENPFREKKFF
8:132002719-132002719 G>A	0.0	4275	COLON	-	-	ID=COSM120831;OCCURENCE=1(upper_aerodigestive_tract)	-	ADCY8	uc003ytd.4,p.R344W|NM_001115,p.R344W|ENST00000286355,p.R344W|ENST00000377928,p.R344W|uc010mds.3,p.R344W	protein_coding	uc010mds.3	nonsynonymous SNV	exon2	c.C1030T	p.R344W	NTAGIFISYLSDRAQRQAFLETRRC	NTAGIFISYLSDWAQRQAFLETRRC	1.0	5.0	-	-	4275_8:132002719-132002719 G>A_NTAGIFISYLSDWAQRQAFLETRRC
X:21675591-21675591 C>A	0.0	4275	COLON	-	-	-	-	KLHL34	uc004czz.1,p.A106S|NM_153270,p.A106S|ENST00000379499,p.A106S	protein_coding	uc004czz.1	nonsynonymous SNV	exon1	c.G316T	p.A106S	LSMDTVEDTLEAASYLQVTEALGLC	LSMDTVEDTLEASSYLQVTEALGLC	1.0	10.0	-	-	4275_X:21675591-21675591 C>A_LSMDTVEDTLEASSYLQVTEALGLC
3:195511550-195511550 G>C	0.0	4275	COLON	-	-	-	2	MUC4	ENST00000477086,p.H2301D|ENST00000463781,p.H2301D|ENST00000479406,p.H2301D|ENST00000470451,p.H2301D|ENST00000478156,p.H2301D|ENST00000462323,p.H2301D|uc021xjp.1,p.H2301D|ENST00000480843,p.H2301D|ENST00000475231,p.H2301D|NM_018406,p.H2301D|ENST00000477756,p.H2301D|ENST00000466475,p.H2301D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C6901G	p.H2301D	LPVTSPSSASTGHATPLHVTDASSA	LPVTSPSSASTGDATPLHVTDASSA	7.0	1.0	unscreened	-	4275_3:195511550-195511550 G>C_LPVTSPSSASTGDATPLHVTDASSA
8:68076630-68076630 ->A	1.0	4275	COLON	-	-	-	-	CSPP1	uc003xxj.3,p.E900fs|ENST00000519668,p.E555fs|NM_024790,p.E900fs|ENST00000412460,p.E555fs|uc003xxi.3,p.E935fs|NM_001291339,p.E555fs|ENST00000262210,p.E900fs|uc003xxk.3,p.E555fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc003xxk.3	frameshift insertion	exon19	c.1666dupA	p.E555fs	VPARKNQLRAEEEKKNVIMELSEMR	VPARKNQLRAEEEKKKCNYGIIRNEKTAS	7.0	10.0	-	-	4275_8:68076630-68076630 ->A_VPARKNQLRAEEEKKKCNYGIIRNEKTAS
12:13237915-13237915 G>A	0.0	4275	COLON	-	-	-	-	GSG1	NM_153823,p.R301W|NM_001206842,p.R314W|ENST00000324458,p.R337W|uc001rbn.3,p.R337W|uc001rbj.3,p.R301W|NM_001206843,p.R273W|ENST00000457134,p.R250W|uc001rbl.3,p.R273W|uc001rbm.3,p.R250W|ENST00000337630,p.R301W|ENST00000537302,p.R273W|ENST00000432710,p.R314W|NM_001080555,p.R337W|uc001rbp.3,p.R314W|ENST00000396310,p.R270W|NM_001206845,p.R250W	protein_coding	uc001rbp.3	nonsynonymous SNV	exon6	c.C940T	p.R314W	SVSEGVDFYSELRNKGFQRGASQEL	SVSEGVDFYSELWNKGFQRGASQEL	1.0	6.0	-	-	4275_12:13237915-13237915 G>A_SVSEGVDFYSELWNKGFQRGASQEL
2:47278894-47278894 G>A	1.0	4275	COLON	-	-	ID=COSM442964;OCCURENCE=1(breast)	-	TTC7A	uc002rvp.3,p.R557Q|ENST00000394850,p.R700Q|ENST00000319190,p.R676Q|uc002rvm.3,p.R642Q|uc002rvq.3,p.R416Q|ENST00000263737,p.R322Q|NM_020458,p.R676Q|uc010fbb.3,p.R700Q|uc010fbc.3,p.R322Q|uc002rvr.3,p.R125Q|uc002rvo.3,p.R676Q|NM_001288951,p.R700Q|NM_001288953,p.R642Q|NM_001288955,p.R322Q|ENST00000409245,p.R642Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fbc.3	nonsynonymous SNV	exon17	c.G965A	p.R322Q	LPDAHDADSGSRRASSIAASRLEEA	LPDAHDADSGSRQASSIAASRLEEA	9.0	7.0	-	-	4275_2:47278894-47278894 G>A_LPDAHDADSGSRQASSIAASRLEEA
19:15580484-15580484 C>T	0.0	4275	COLON	-	-	-	-	PGLYRP2	uc002nbg.3,p.A534T|uc002nbf.4,p.A534T|NM_052890,p.A534T|ENST00000340880,p.A534T|ENST00000292609,p.A534T	protein_coding	uc002nbg.3	nonsynonymous SNV	exon4	c.G1600A	p.A534T	HRQLVRTDCPGDALFDLLRTWPHFT	HRQLVRTDCPGDTLFDLLRTWPHFT	1.0	7.0	-	-	4275_19:15580484-15580484 C>T_HRQLVRTDCPGDTLFDLLRTWPHFT
4:115998158-115998158 C>T	0.0	4275	COLON	0.01	rs35181627	ID=COSM3696401;OCCURENCE=1(large_intestine)	-	NDST4	ENST00000264363,p.R12Q|NM_022569,p.R12Q|uc003ibu.3,p.R12Q	retained_intron, protein_coding, nonsense_mediated_decay	uc003ibu.3	nonsynonymous SNV	exon2	c.G35A	p.R12Q	MNLIVKLRRSFRTLIVLLATFCLV	MNLIVKLRRSFQTLIVLLATFCLV	1.0	3.0	-	-	4275_4:115998158-115998158 C>T_MNLIVKLRRSFQTLIVLLATFCLV
22:50615968-50615968 G>A	0.0	4275	COLON	-	-	ID=COSM1417021,COSM1417020;OCCURENCE=1(large_intestine)	-	PANX2	uc003bjo.4,p.R276H|NM_001160300,p.R276H|uc003bjp.4,p.R142H|uc003bjn.4,p.R276H|ENST00000159647,p.R276H|ENST00000395842,p.R276H|NM_052839,p.R276H	protein_coding, nonsense_mediated_decay	uc003bjp.4	nonsynonymous SNV	exon3	c.G425A	p.R142H	SPDGAAGAGPAVRVSCKLPSVQLQR	SPDGAAGAGPAVHVSCKLPSVQLQR	1.0	8.0	-	-	4275_22:50615968-50615968 G>A_SPDGAAGAGPAVHVSCKLPSVQLQR
3:195511562-195511562 C>A	0.0	4275	COLON	-	-	-	2	MUC4	ENST00000479406,p.A2297S|ENST00000462323,p.A2297S|ENST00000480843,p.A2297S|ENST00000475231,p.A2297S|ENST00000466475,p.A2297S|ENST00000478156,p.A2297S|ENST00000477756,p.A2297S|ENST00000463781,p.A2297S|ENST00000470451,p.A2297S|ENST00000477086,p.A2297S|NM_018406,p.A2297S|uc021xjp.1,p.A2297S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G6889T	p.A2297S	DTTPLPVTSPSSASTGHATPLHVTD	DTTPLPVTSPSSSSTGHATPLHVTD	7.0	1.0	unscreened	-	4275_3:195511562-195511562 C>A_DTTPLPVTSPSSSSTGHATPLHVTD
1:22166413-22166413 G>A	1.0	4275	COLON	-	-	-	-	HSPG2	uc001bfj.3,p.T3204M|NM_001291860,p.T3205M|NM_005529,p.T3204M|uc009vqd.3,p.T3205M|ENST00000374695,p.T3204M	protein_coding, processed_transcript, nonsense_mediated_decay	uc009vqd.3	nonsynonymous SNV	exon72	c.C9614T	p.T3205M	GTAQKQVEVIVDTGAMAPGAPQVQA	GTAQKQVEVIVDMGAMAPGAPQVQA	10.0	10.0	-	-	4275_1:22166413-22166413 G>A_GTAQKQVEVIVDMGAMAPGAPQVQA
11:64428413-64428413 C>T	0.0	4275	COLON	0.0005	-	-	-	NRXN2	uc021qkw.1,p.R666H|NM_015080,p.R666H|ENST00000377551,p.R666H|ENST00000265459,p.R666H|uc021qkx.1,p.R635H|ENST00000409571,p.R659H|uc001oas.3,p.R635H|ENST00000377559,p.R635H|uc001oaq.3,p.R333H|NM_138732,p.R635H	retained_intron, protein_coding, processed_transcript	uc021qkx.1	nonsynonymous SNV	exon9	c.G1904A	p.R635H	YVGCVRDLFIDGRSRDLRGLAEAQG	YVGCVRDLFIDGHSRDLRGLAEAQG	7.0	8.0	-	-	4275_11:64428413-64428413 C>T_YVGCVRDLFIDGHSRDLRGLAEAQG
1:181767893-181767893 G>A	0.0	4275	COLON	-	-	-	-	CACNA1E	ENST00000367570,p.G2246R|NM_000721,p.G2246R|uc009wxt.3,p.G2289R|NM_001205294,p.G2227R|ENST00000360108,p.G2270R|ENST00000357570,p.G2240R|ENST00000367573,p.G2289R|uc001gow.3,p.G2246R|ENST00000367567,p.G1853R|ENST00000358338,p.G2178R|ENST00000526775,p.G2227R|uc009wxs.3,p.G2227R|NM_001205293,p.G2289R	retained_intron, protein_coding	uc009wxt.3	nonsynonymous SNV	exon48	c.G6865A	p.G2289R	QMPNGHYRRRRRGGPGPGMMCGAVN	QMPNGHYRRRRRRGPGPGMMCGAVN	3.0	9.0	-	-	4275_1:181767893-181767893 G>A_QMPNGHYRRRRRRGPGPGMMCGAVN
Y:22923182-22923182 T>C	0.0	4275	COLON	-	-	-	-	RPS4Y2	ENST00000288666,p.I92T|uc011nbb.2,p.I92T|NM_001039567,p.I92T	protein_coding	uc011nbb.2	nonsynonymous SNV	exon4	c.T275C	p.I92T	ITYPAGFIDVISIEKTGEHFRLVYN	ITYPAGFIDVISTEKTGEHFRLVYN	2.0	10.0	-	-	4275_Y:22923182-22923182 T>C_ITYPAGFIDVISTEKTGEHFRLVYN
7:31793126-31793126 C>T	0.0	4275	COLON	-	-	-	-	PDE1C	ENST00000396193,p.A728T|NM_001191059,p.A668T|NM_001191058,p.A728T|uc003tcm.2,p.A668T|ENST00000321453,p.A668T|NM_001191057,p.A668T|ENST00000396191,p.A668T|uc003tco.2,p.A728T|uc003tcn.1,p.A668T	retained_intron, protein_coding, processed_transcript	uc003tco.2	nonsynonymous SNV	exon19	c.G2182A	p.A728T	KPPLRHFKRPAYASSSYAPSVSKKT	KPPLRHFKRPAYTSSSYAPSVSKKT	4.0	6.0	-	-	4275_7:31793126-31793126 C>T_KPPLRHFKRPAYTSSSYAPSVSKKT
16:77369780-77369780 C>T	0.0	4275	COLON	-	-	-	-	ADAMTS18	uc010chc.1,p.V166I|uc002ffc.4,p.V578I|NM_199355,p.V578I|ENST00000282849,p.V578I|uc002ffe.1,p.V274I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010chc.1	nonsynonymous SNV	exon7	c.G496A	p.V166I	CGLSMWCRQGQCVKFGELGPRPIHG	CGLSMWCRQGQCIKFGELGPRPIHG	4.0	5.0	-	-	4275_16:77369780-77369780 C>T_CGLSMWCRQGQCIKFGELGPRPIHG
1:152081090-152081090 G>C	0.0	4275	COLON	0.01	-	-	-	TCHH	uc001ezp.3,p.Q1535E|ENST00000368804,p.Q1535E|uc009wne.1,p.Q1535E|NM_007113,p.Q1535E	protein_coding	uc009wne.1	nonsynonymous SNV	exon3	c.C4603G	p.Q1535E	QLHRQQRQRKFLQEEQQLRRQERGQ	QLHRQQRQRKFLEEEQQLRRQERGQ	5.0	1.0	unscreened	-	4275_1:152081090-152081090 G>C_QLHRQQRQRKFLEEEQQLRRQERGQ
14:20295870-20295870 C>T	0.0	4275	COLON	-	-	ID=COSM954072;OCCURENCE=1(large_intestine),1(endometrium)	-	OR4N2	ENST00000568211,p.A88V|ENST00000315947,p.A88V|ENST00000557677,p.A88V|NM_001004723,p.A88V|uc010tkv.2,p.A88V	protein_coding	uc010tkv.2	nonsynonymous SNV	exon1	c.C263T	p.A88V	IVAPRMLVDFLSAKKIISYRGCITQ	IVAPRMLVDFLSVKKIISYRGCITQ	1.0	7.0	-	-	4275_14:20295870-20295870 C>T_IVAPRMLVDFLSVKKIISYRGCITQ
8:42977641-42977641 C>A	1.0	4275	COLON	-	-	-	-	POMK	uc031taz.1,p.A225E|NM_032237,p.A225E|ENST00000331373,p.A225E|NM_001277971,p.A225E|uc003xpw.3,p.A225E	protein_coding	uc031taz.1	nonsynonymous SNV	exon4	c.C674A	p.A225E	SQYLLTSNFSILANDLDALPLVNHS	SQYLLTSNFSILENDLDALPLVNHS	8.0	8.0	-	-	4275_8:42977641-42977641 C>A_SQYLLTSNFSILENDLDALPLVNHS
7:44286784-44286784 T>C	0.0	4275	COLON	-	-	-	-	CAMK2B	ENST00000346990,p.I117V|ENST00000350811,p.I117V|NM_001293170,p.I117V|ENST00000347193,p.I117V|ENST00000440254,p.I117V|ENST00000395749,p.I117V|ENST00000358707,p.I117V|uc003tkv.2,p.I117V|uc003tkp.2,p.I117V|uc003tkr.2,p.I117V|NM_172083,p.I117V|uc003tks.2,p.I117V|NM_172082,p.I117V|ENST00000353185,p.I117V|ENST00000421607,p.I117V|NM_172081,p.I117V|ENST00000415369,p.I133V|ENST00000395747,p.I117V|ENST00000258682,p.I117V|ENST00000353625,p.I117V|ENST00000457475,p.I117V|uc003tkq.2,p.I117V|uc010kyc.2,p.I117V|NM_172079,p.I117V|NM_001220,p.I117V|NM_172080,p.I117V|uc003tkw.2,p.I117V|uc003tkt.2,p.I117V|NM_172084,p.I117V|uc003tku.2,p.I117V|NM_172078,p.I117V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kyc.2	nonsynonymous SNV	exon6	c.A349G	p.I117V	REYYSEADASHCIQQILEAVLHCHQ	REYYSEADASHCVQQILEAVLHCHQ	4.0	1.0	-	-	4275_7:44286784-44286784 T>C_REYYSEADASHCVQQILEAVLHCHQ
11:89531533-89531533 G>T	0.0	4275	COLON	-	rs146898780	-	-	TRIM49	NM_020358,p.A375E|ENST00000329758,p.A375E|ENST00000532501,p.A298E|uc001pdb.3,p.A375E	protein_coding	uc001pdb.3	nonsynonymous SNV	exon8	c.C1124A	p.A375E	KEKNQNEKIDGKAGLFLLGCVKNDI	KEKNQNEKIDGKEGLFLLGCVKNDI	1.0	1.0	-	-	4275_11:89531533-89531533 G>T_KEKNQNEKIDGKEGLFLLGCVKNDI
3:48423512-48423512 G>A	0.0	4275	COLON	-	-	ID=COSM1206874;OCCURENCE=1(large_intestine)	-	FBXW12	ENST00000445170,p.R392H|NM_207102,p.R411H|uc003csr.3,p.R411H|ENST00000415155,p.R341H|uc003css.3,p.R341H|ENST00000436231,p.R254H|ENST00000296438,p.R411H|uc010hjv.3,p.R392H|NM_001159927,p.R341H|uc010hjw.3,p.R310H|NM_001159929,p.R392H	retained_intron, protein_coding, processed_transcript	uc010hjw.3	nonsynonymous SNV	exon7	c.G929A	p.R310H	NSVHVYMWEEGGRHPYLRSCCHLEN	NSVHVYMWEEGGHHPYLRSCCHLEN	1.0	9.0	-	-	4275_3:48423512-48423512 G>A_NSVHVYMWEEGGHHPYLRSCCHLEN
10:81841428-81841432 AAAAG>-	0.0	4275	COLON	-	-	-	-	TMEM254	NM_001270374,p.K15fs|uc031pwi.1,p.K15fs	protein_coding, processed_transcript	uc031pwi.1	frameshift deletion	exon2	c.45_49del	p.K15fs	GKPQQRSETLSKKKERKKIEAKNGD	GKPQQRSETLSKKKKENRSQEWRPK	8.0	1.0	unscreened	-	4275_10:81841428-81841432 AAAAG>-_GKPQQRSETLSKKKKENRSQEWRPK
10:81841428-81841432 AAAAG>-	0.0	4275	COLON	-	-	-	-	TMEM254	uc009xsn.4,p.K40fs|NM_001270371,p.K40fs	protein_coding, processed_transcript	uc009xsn.4	frameshift deletion	exon2	c.120_124del	p.K40fs	YTPQQRSETLSKKKERKKIEAKNGD	YTPQQRSETLSKKKKENRSQEWRPK	8.0	1.0	unscreened	-	4275_10:81841428-81841432 AAAAG>-_YTPQQRSETLSKKKKENRSQEWRPK
15:48762851-48762851 C>A	0.0	4275	COLON	-	-	-	-	FBN1	ENST00000316623,p.R1480I|NM_000138,p.R1480I|uc001zwx.2,p.R1480I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zwx.2	nonsynonymous SNV	exon36	c.G4439T	p.R1480I	FRCECEIGYELDRSGGNCTDVNECL	FRCECEIGYELDISGGNCTDVNECL	8.0	9.0	-	-	4275_15:48762851-48762851 C>A_FRCECEIGYELDISGGNCTDVNECL
9:94172544-94172544 T>C	1.0	4275	COLON	-	-	-	-	NFIL3	uc004arh.3,p.N158S|uc022bjt.1,p.N158S|NM_001289999,p.N158S|ENST00000297689,p.N158S|NM_005384,p.N158S|NM_001290000,p.N158S	protein_coding	uc022bjt.1	nonsynonymous SNV	exon1	c.A473G	p.N158S	AVYFQDYQTSKSNVSSFVDEHEPSM	AVYFQDYQTSKSSVSSFVDEHEPSM	7.0	4.0	-	-	4275_9:94172544-94172544 T>C_AVYFQDYQTSKSSVSSFVDEHEPSM
2:48873780-48873780 G>A	0.0	4275	COLON	-	-	-	-	GTF2A1L,STON1-GTF2A1L	NM_006872,p.V193M|ENST00000430487,p.V159M|uc021vhf.1,p.V897M|ENST00000309827,p.V897M|ENST00000394754,p.V897M|uc002rws.2,p.V193M|uc010yol.2,p.V850M|ENST00000437125,p.V202M|ENST00000402114,p.V897M|ENST00000394751,p.V850M|uc002rwp.2,p.V897M|ENST00000405008,p.V897M|uc010yom.2,p.V159M|ENST00000403751,p.V193M|NM_001193487,p.V159M|NM_172311,p.V897M|NM_001198593,p.V897M|NM_001198594,p.V850M	protein_coding, processed_transcript	uc021vhf.1	nonsynonymous SNV	exon8	c.G2689A	p.V897M	QATTEKSQRIETVLQQPAILPSGPV	QATTEKSQRIETMLQQPAILPSGPV	5.0	9.0	-	-	4275_2:48873780-48873780 G>A_QATTEKSQRIETMLQQPAILPSGPV
7:44286784-44286784 T>C	0.0	4275	COLON	-	-	-	-	CAMK2B	ENST00000424197,p.I129V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000424197	nonsynonymous SNV	exon6	c.A385G	p.I129V	RTNPPAVCHSHCIQQILEAVLHCHQ	RTNPPAVCHSHCVQQILEAVLHCHQ	4.0	1.0	-	-	4275_7:44286784-44286784 T>C_RTNPPAVCHSHCVQQILEAVLHCHQ
6:166580091-166580091 C>T	0.0	4275	COLON	-	-	-	-	T	ENST00000366871,p.G154R|ENST00000461348,p.G154R|ENST00000296946,p.G154R|uc003qut.2,p.G154R|NM_003181,p.G154R|uc003quv.2,p.G154R|NM_001270484,p.G154R|uc003quu.2,p.G154R|ENST00000366876,p.G154R	protein_coding	uc003quv.2	nonsynonymous SNV	exon3	c.G460A	p.G154R	SFSKVKLTNKLNGGGQIMLNSLHKY	SFSKVKLTNKLNRGGQIMLNSLHKY	2.0	2.0	-	-	4275_6:166580091-166580091 C>T_SFSKVKLTNKLNRGGQIMLNSLHKY
16:88800398-88800398 G>C	0.0	4275	COLON	-	rs62639697	-	-	PIEZO1	NM_001142864,p.Q749E|uc010cib.3,p.Q286E|ENST00000301015,p.Q749E|uc010vpb.2,p.Q749E	retained_intron, protein_coding, nonsense_mediated_decay	uc010vpb.2	nonsynonymous SNV	exon17	c.C2245G	p.Q749E	LREEQQEHQQQQQEEEEEEEDSRDE	LREEQQEHQQQQEEEEEEEEDSRDE	10.0	3.0	unscreened	-	4275_16:88800398-88800398 G>C_LREEQQEHQQQQEEEEEEEEDSRDE
5:5242274-5242274 C>T	0.0	4275	COLON	-	-	-	-	ADAMTS16	NM_139056,p.R878C|uc003jdk.1,p.R878C|ENST00000274181,p.R878C|uc003jdl.3,p.R878C	retained_intron, protein_coding, processed_transcript	uc003jdl.3	nonsynonymous SNV	exon17	c.C2632T	p.R878C	PPAQPSYTWAIVRSECSVSCGGGQM	PPAQPSYTWAIVCSECSVSCGGGQM	3.0	7.0	-	-	4275_5:5242274-5242274 C>T_PPAQPSYTWAIVCSECSVSCGGGQM
13:23912602-23912602 A>C	0.0	4275	COLON	-	-	-	-	SACS	NM_001278055,p.S1658A|uc001uon.3,p.S1805A|ENST00000402364,p.S1055A|NM_014363,p.S1805A|uc001uoo.3,p.S1658A|ENST00000382298,p.S1805A|ENST00000382292,p.S1805A	protein_coding, processed_transcript	uc001uoo.3	nonsynonymous SNV	exon8	c.T4972G	p.S1658A	FEMAKSGQSKKPSDELSQKTVECTT	FEMAKSGQSKKPADELSQKTVECTT	5.0	6.0	-	-	4275_13:23912602-23912602 A>C_FEMAKSGQSKKPADELSQKTVECTT
1:152081071-152081071 C>T	0.0	4275	COLON	0.01	-	-	-	TCHH	NM_007113,p.R1541H|uc009wne.1,p.R1541H|uc001ezp.3,p.R1541H|ENST00000368804,p.R1541H	protein_coding	uc009wne.1	nonsynonymous SNV	exon3	c.G4622A	p.R1541H	RQRKFLQEEQQLRRQERGQQRRQDR	RQRKFLQEEQQLHRQERGQQRRQDR	5.0	2.0	unscreened	-	4275_1:152081071-152081071 C>T_RQRKFLQEEQQLHRQERGQQRRQDR
2:1442607-1442607 G>A	0.0	4275	COLON	-	-	-	-	TPO	uc010yin.1,p.D168N|ENST00000539820,p.D168N|ENST00000382269,p.D168N	protein_coding, processed_transcript	uc010yin.1	nonsynonymous SNV	exon6	c.G502A	p.D168N	GACNNRKMKYKPDHSETAN	GACNNRKMKYKPNHSETAN	1.0	4.0	-	-	4275_2:1442607-1442607 G>A_GACNNRKMKYKPNHSETAN
1:68591929-68591929 G>C	1.0	4275	COLON	-	-	-	-	WLS	ENST00000262348,p.R536G|uc001def.2,p.R536G|uc001deg.2,p.R445G|NM_024911,p.R536G|NM_001193334,p.R445G|ENST00000370976,p.R445G	protein_coding, processed_transcript, nonsense_mediated_decay	uc001deg.2	nonsynonymous SNV	exon11	c.C1333G	p.R445G	HVDGPTEIYKLTRKEAQE	HVDGPTEIYKLTGKEAQE	9.0	4.0	-	-	4275_1:68591929-68591929 G>C_HVDGPTEIYKLTGKEAQE
8:143957809-143957809 C>T	0.0	4275	COLON	-	-	-	-	CYP11B1	NM_001026213,p.D268N|ENST00000292427,p.D268N|uc003yxi.3,p.D268N|ENST00000377675,p.D339N|uc010mey.3,p.D339N|ENST00000517471,p.D268N|uc003yxj.3,p.D268N|NM_000497,p.D268N	retained_intron, protein_coding	uc010mey.3	nonsynonymous SNV	exon7	c.G1015A	p.D339N	HFEAWDCIFQYGDNCIQKIYQELAF	HFEAWDCIFQYGNNCIQKIYQELAF	1.0	3.0	-	-	4275_8:143957809-143957809 C>T_HFEAWDCIFQYGNNCIQKIYQELAF
19:22941834-22941834 C>A	0.0	4275	COLON	-	-	-	-	ZNF99	ENST00000596209,p.A293S|uc021urt.1,p.A293S|NM_001080409,p.A293S|ENST00000397104,p.A202S	protein_coding	uc021urt.1	nonsynonymous SNV	exon4	c.G877T	p.A293S	GKKPYKCEECGKAFKQSSHLTRHKA	GKKPYKCEECGKSFKQSSHLTRHKA	5.0	4.0	-	-	4275_19:22941834-22941834 C>A_GKKPYKCEECGKSFKQSSHLTRHKA
15:79296188-79296188 G>A	0.0	4275	COLON	0.0027	-	-	-	RASGRF1	NM_001145648,p.T802M|ENST00000419573,p.T818M|ENST00000394745,p.T34M|uc002beo.3,p.T34M|uc002ber.4,p.T802M|uc002beq.3,p.T818M|NM_002891,p.T818M|uc002bep.3,p.T802M|uc010blm.1,p.T727M|uc010unh.1,p.T213M|ENST00000558480,p.T802M|NM_153815,p.T34M	retained_intron, protein_coding, processed_transcript, TEC	uc010unh.1	nonsynonymous SNV	exon4	c.C638T	p.T213M	SSFTNKIPDEGDTTPEKPEDPSALS	SSFTNKIPDEGDMTPEKPEDPSALS	5.0	2.0	-	-	4275_15:79296188-79296188 G>A_SSFTNKIPDEGDMTPEKPEDPSALS
5:50111353-50111353 G>A	1.0	4275	COLON	-	-	-	-	PARP8	uc003jop.3,p.A555T|ENST00000503750,p.A555T|ENST00000514342,p.A308T|NM_001178056,p.A555T|ENST00000514067,p.A555T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jop.3	nonsynonymous SNV	exon15	c.G1663A	p.A555T	VMNEAADEIATGAQKKNYDRVMKAL	VMNEAADEIATGTQKKNYDRVMKAL	9.0	5.0	-	-	4275_5:50111353-50111353 G>A_VMNEAADEIATGTQKKNYDRVMKAL
3:179527365-179527365 C>T	0.0	4275	COLON	-	-	-	-	PEX5L	ENST00000392649,p.A308T|uc011bqf.2,p.A308T|uc003fkj.2,p.A381T|NM_001256756,p.A224T|NM_001256755,p.A308T|ENST00000485199,p.A381T|uc003fki.2,p.A416T|ENST00000467460,p.A416T|NM_016559,p.A416T|NM_001256752,p.A381T|ENST00000476138,p.A373T|NM_001256754,p.A373T|NM_001256753,p.A357T|uc011bqg.2,p.A392T|ENST00000472994,p.A357T|uc011bqh.2,p.A357T|uc010hxd.2,p.A414T|uc011bqe.2,p.A224T|ENST00000468741,p.A224T|uc011bqd.2,p.A373T|NM_001256750,p.A414T|ENST00000263962,p.A414T|ENST00000464614,p.A308T|ENST00000465751,p.A392T|NM_001256751,p.A392T	retained_intron, protein_coding, processed_transcript	uc011bqh.2	nonsynonymous SNV	exon10	c.G1069A	p.A357T	YTNTGHQQDACDALKNWIKQNPKYK	YTNTGHQQDACDTLKNWIKQNPKYK	1.0	4.0	-	-	4275_3:179527365-179527365 C>T_YTNTGHQQDACDTLKNWIKQNPKYK
3:9776020-9776020 C>T	1.0	4275	COLON	-	-	ID=COSM180427;OCCURENCE=3(large_intestine),1(skin)	-	BRPF1	ENST00000424362,p.R66C|uc011ati.2,p.R66C|ENST00000420291,p.R66C|ENST00000426583,p.R66C|uc003bsf.3,p.R66C|uc003bse.3,p.R66C|uc003bsg.3,p.R66C|ENST00000457855,p.R66C|ENST00000302054,p.R66C|ENST00000433861,p.R66C|NM_001003694,p.R66C|ENST00000383829,p.R66C|NM_004634,p.R66C	retained_intron, protein_coding, processed_transcript	uc011ati.2	nonsynonymous SNV	exon2	c.C196T	p.R66C	QQTPLRKHKKKGRQSRPANKQSPSP	QQTPLRKHKKKGCQSRPANKQSPSP	7.0	6.0	-	-	4275_3:9776020-9776020 C>T_QQTPLRKHKKKGCQSRPANKQSPSP
10:50531479-50531479 G>A	0.0	4275	COLON	0.0005	-	-	-	C10orf71	ENST00000374144,p.V297I|ENST00000323868,p.V297I|NM_001135196,p.V297I|uc021pqa.2,p.V297I|uc021pqb.1,p.V297I	protein_coding, processed_transcript	uc021pqb.1	nonsynonymous SNV	exon1	c.G889A	p.V297I	PKLLERKDTAGTVPESKAPKHYGDT	PKLLERKDTAGTIPESKAPKHYGDT	1.0	5.0	-	-	4275_10:50531479-50531479 G>A_PKLLERKDTAGTIPESKAPKHYGDT
7:75890723-75890723 G>A	0.0	4275	COLON	-	-	ID=COSM1452099;OCCURENCE=2(large_intestine)	-	SRRM3	uc010ldi.2,p.R210H|NM_001291831,p.R210H|ENST00000388802,p.R210H|ENST00000326382,p.R210H	retained_intron, protein_coding, processed_transcript	uc010ldi.2	nonsynonymous SNV	exon7	c.G629A	p.R210H	PLRKKKKSVKKHRRDRSDSGSRRKR	PLRKKKKSVKKHHRDRSDSGSRRKR	5.0	5.0	-	-	4275_7:75890723-75890723 G>A_PLRKKKKSVKKHHRDRSDSGSRRKR
14:57272172-57272172 C>A	0.0	4275	COLON	-	-	-	-	OTX2	NM_021728,p.M1I|ENST00000554845,p.M1I|ENST00000555006,p.M1I|ENST00000554559,p.M1I|NM_172337,p.M1I|ENST00000408990,p.M1I|uc001xcp.4,p.M1I|NM_001270525,p.M1I|uc001xcq.4,p.M1I|NM_001270523,p.M1I|ENST00000555804,p.M1I|ENST00000554788,p.M1I|ENST00000339475,p.M1I|uc031qor.1,p.M1I|NM_001270524,p.M1I|uc031qos.1,p.M1I|uc010aou.4,p.M1I	retained_intron, protein_coding	uc031qos.1	nonsynonymous SNV	exon3	c.G3T	p.M1I	MMSYLKQPPYAVN	IMSYLKQPPYAVN	1.0	4.0	unscreened	-	4275_14:57272172-57272172 C>A_IMSYLKQPPYAVN
21:34721784-34721784 C>G	1.0	4278	COLON	-	-	-	-	IFNAR1	ENST00000442357,p.P360A|uc011adv.2,p.P291A|uc002yrn.3,p.P360A|ENST00000270139,p.P360A|NM_000629,p.P360A|ENST00000416947,p.P291A	protein_coding, processed_transcript	uc011adv.2	nonsynonymous SNV	exon8	c.C871G	p.P291A	IYIGAPKQSGNTPVIQDYPLIYEII	IYIGAPKQSGNTAVIQDYPLIYEII	8.0	5.0	-	-	4278_21:34721784-34721784 C>G_IYIGAPKQSGNTAVIQDYPLIYEII
15:49421687-49421687 G>A	1.0	4278	COLON	-	-	-	-	COPS2	ENST00000542928,p.P308L|NM_004236,p.P372L|uc001zxf.3,p.P372L|ENST00000388901,p.P372L|NM_001143887,p.P379L|uc010ufa.2,p.P308L|uc001zxh.3,p.P379L|ENST00000299259,p.P379L	retained_intron, protein_coding, nonsense_mediated_decay	uc010ufa.2	nonsynonymous SNV	exon9	c.C923T	p.P308L	IKLIKPYTRIHIPFISKELNIDVAD	IKLIKPYTRIHILFISKELNIDVAD	9.0	2.0	CD8	-	4278_15:49421687-49421687 G>A_IKLIKPYTRIHILFISKELNIDVAD
6:151687237-151687237 G>A	1.0	4278	COLON	-	-	-	-	ZBTB2	ENST00000325144,p.H322Y|NM_020861,p.H322Y|uc003qoh.3,p.H322Y	protein_coding	uc003qoh.3	nonsynonymous SNV	exon3	c.C964T	p.H322Y	PEAGMISDSELQHISDSPIIDGQQQ	PEAGMISDSELQYISDSPIIDGQQQ	6.0	3.0	-	-	4278_6:151687237-151687237 G>A_PEAGMISDSELQYISDSPIIDGQQQ
7:100634783-100634783 ->AC	1.0	4278	COLON	-	-	-	-	MUC12	uc003uxo.3,p.P313fs|ENST00000379442,p.P456fs|NM_001164462,p.P313fs|ENST00000536621,p.P313fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	frameshift insertion	exon2	c.939_940insAC	p.P313fs	LSTTYHSSPSSTPTTHFSASSTTLG	LSTTYHSSPSSTPTQPTFLPAPQPWAIVRNRHQSTAAQLQLQQHPHLPAPRPQAMLKNLQPTTGARAQLKQCTSLKAPQLQAIVKNQQLSTAAQHTQNLQLLAPQLP	8.0	10.0	-	-	4278_7:100634783-100634783 ->AC_LSTTYHSSPSSTPTQPTFLPAPQPWAIVRNRHQSTAAQLQLQQHPHLPAPRPQAMLKNLQPTTGARAQLKQCTSLKAPQLQAIVKNQQLSTAAQHTQNLQLLAPQLP
15:49421687-49421687 G>A	1.0	4278	COLON	-	-	-	-	COPS2	ENST00000560240,p.P42L	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000560240	nonsynonymous SNV	exon2	c.C125T	p.P42L	IKLIKPYTRIHIPFISKMESRSCCL	IKLIKPYTRIHILFISKMESRSCCL	9.0	2.0	unscreened	-	4278_15:49421687-49421687 G>A_IKLIKPYTRIHILFISKMESRSCCL
10:123842925-123842925 T>G	0.0	4278	COLON	-	-	-	-	TACC2	NM_001291876,p.L304V|uc009xzx.3,p.L304V|ENST00000453444,p.L304V|ENST00000369005,p.L304V|ENST00000515273,p.L304V|ENST00000334433,p.L304V|uc010qtv.2,p.L304V|NM_001291877,p.L304V|ENST00000515603,p.L304V|uc001lfv.3,p.L304V|NM_206862,p.L304V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qtv.2	nonsynonymous SNV	exon4	c.T910G	p.L304V	QGEAPPQYLTDDLEFLRACHLPRSN	QGEAPPQYLTDDVEFLRACHLPRSN	9.0	5.0	-	-	4278_10:123842925-123842925 T>G_QGEAPPQYLTDDVEFLRACHLPRSN
16:30999404-30999404 A>T	1.0	4278	COLON	-	-	-	-	HSD3B7	uc002eah.2,p.K337M|ENST00000297679,p.K337M|NM_025193,p.K337M|uc002eaf.2,p.K337M	protein_coding	uc002eah.2	nonsynonymous SNV	exon6	c.A1010T	p.K337M	AVANTTFTVSTDKAQRHFGYEPLFS	AVANTTFTVSTDMAQRHFGYEPLFS	7.0	7.0	-	-	4278_16:30999404-30999404 A>T_AVANTTFTVSTDMAQRHFGYEPLFS
1:104078042-104078042 C>G	1.0	4278	COLON	-	-	-	-	RNPC3	ENST00000423855,p.S178R|uc010oum.1,p.S178R|ENST00000527062,p.S19R|ENST00000524631,p.S178R|NM_017619,p.S178R|uc010oul.1,p.S178R|ENST00000533099,p.S178R|uc010oun.2,p.S178R	retained_intron, protein_coding, nonsense_mediated_decay	uc010oun.2	nonsynonymous SNV	exon5	c.C534G	p.S178R	STILANIVNALASVPKFYVQVLHLM	STILANIVNALARVPKFYVQVLHLM	8.0	9.0	-	-	4278_1:104078042-104078042 C>G_STILANIVNALARVPKFYVQVLHLM
13:49076955-49076955 G>A	1.0	4278	COLON	-	-	-	-	RCBTB2	ENST00000344532,p.S341F|uc001vcj.3,p.S293F|NM_001286830,p.S346F|uc010tgg.2,p.S346F|uc001vci.3,p.S317F|NM_001286832,p.S67F|ENST00000544492,p.S67F|NM_001268,p.S341F|ENST00000430805,p.S346F|uc001vch.3,p.S341F|NM_001286831,p.S317F|uc010tgh.2,p.S67F	protein_coding, processed_transcript	uc010tgh.2	nonsynonymous SNV	exon6	c.C200T	p.S67F	GHVYMWGQCRGQSVILPHLTHFSCT	GHVYMWGQCRGQFVILPHLTHFSCT	6.0	7.0	-	-	4278_13:49076955-49076955 G>A_GHVYMWGQCRGQFVILPHLTHFSCT
5:140182140-140182140 C>T	1.0	4278	COLON	-	-	-	-	PCDHA3	ENST00000522353,p.P453L|NM_031497,p.P453L|ENST00000532566,p.P453L|uc011czz.2,p.P453L|NM_018906,p.P453L|uc003lhf.2,p.P453L	protein_coding	uc011czz.2	nonsynonymous SNV	exon1	c.C1358T	p.P453L	VSVEVADVNDNAPAFSQSEYTVFVK	VSVEVADVNDNALAFSQSEYTVFVK	6.0	10.0	-	-	4278_5:140182140-140182140 C>T_VSVEVADVNDNALAFSQSEYTVFVK
19:16630059-16630059 C>T	1.0	4278	COLON	-	-	-	-	CHERP	uc002nei.1,p.V888M|NM_006387,p.V888M|uc010xpg.1,p.V427M|ENST00000546361,p.V888M|ENST00000198939,p.V899M	retained_intron, protein_coding, processed_transcript	uc010xpg.1	nonsynonymous SNV	exon9	c.G1279A	p.V427M	VRDKWDQYKGVGVALDDPYENYRRN	VRDKWDQYKGVGMALDDPYENYRRN	7.0	5.0	-	-	4278_19:16630059-16630059 C>T_VRDKWDQYKGVGMALDDPYENYRRN
5:74646669-74646669 C>T	1.0	4278	COLON	-	-	-	-	HMGCR	ENST00000287936,p.P279L|uc011cst.2,p.P299L|uc010izn.1,p.P80L|NM_001130996,p.P279L|ENST00000343975,p.P279L|uc003kdp.3,p.P279L|uc003kdq.3,p.P279L|ENST00000511206,p.P279L|NM_000859,p.P279L	retained_intron, protein_coding	uc011cst.2	nonsynonymous SNV	exon9	c.C896T	p.P299L	VHAHSRWIADPSPQNSTADTSKVSL	VHAHSRWIADPSLQNSTADTSKVSL	10.0	3.0	-	-	4278_5:74646669-74646669 C>T_VHAHSRWIADPSLQNSTADTSKVSL
2:170042241-170042241 C>T	0.0	4278	COLON	-	-	-	-	LRP2	NM_004525,p.R3206H|ENST00000263816,p.R3206H|uc002ues.3,p.R3206H	retained_intron, protein_coding, processed_transcript	uc002ues.3	nonsynonymous SNV	exon50	c.G9617A	p.R3206H	NSNIEPYLIFSNRYYLRNLTIDGYF	NSNIEPYLIFSNHYYLRNLTIDGYF	6.0	4.0	-	-	4278_2:170042241-170042241 C>T_NSNIEPYLIFSNHYYLRNLTIDGYF
6:160557646-160557646 G>A	1.0	4278	COLON	0.0037	-	ID=COSM1075634;OCCURENCE=1(endometrium)	-	SLC22A1	ENST00000324965,p.R342H|ENST00000457470,p.R342H|NM_153187,p.R342H|uc003qtd.3,p.R342H|NM_003057,p.R342H|ENST00000366963,p.R342H|uc003qtc.3,p.R342H	retained_intron, protein_coding, nonsense_mediated_decay	uc003qtd.3	nonsynonymous SNV	exon6	c.G1025A	p.R342H	LSPSFADLFRTPRLRKRTFILMYLW	LSPSFADLFRTPHLRKRTFILMYLW	5.0	9.0	-	-	4278_6:160557646-160557646 G>A_LSPSFADLFRTPHLRKRTFILMYLW
2:46850992-46850992 G>A	1.0	4278	COLON	-	-	-	-	CRIPT	ENST00000238892,p.C76Y|uc002rve.3,p.C76Y|NM_014171,p.C76Y	protein_coding, processed_transcript	uc002rve.3	nonsynonymous SNV	exon4	c.G227A	p.C76Y	SVHQPGSHYCQGCAYKKGICAMCGK	SVHQPGSHYCQGYAYKKGICAMCGK	9.0	10.0	-	-	4278_2:46850992-46850992 G>A_SVHQPGSHYCQGYAYKKGICAMCGK
2:11427807-11427807 T>A	1.0	4278	COLON	-	-	-	-	ROCK2	ENST00000315872,p.K66M|NM_004850,p.K66M|uc002rbd.1,p.K66M|ENST00000261535,p.K66M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002rbd.1	nonsynonymous SNV	exon2	c.A197T	p.K66M	VLDLDFPALRKNKNIDNFLNRYEKI	VLDLDFPALRKNMNIDNFLNRYEKI	9.0	8.0	-	-	4278_2:11427807-11427807 T>A_VLDLDFPALRKNMNIDNFLNRYEKI
2:71909728-71909728 G>A	1.0	4278	COLON	-	-	ID=COSM1592373,COSM1022693;OCCURENCE=1(endometrium)	-	DYSF	uc010fei.3,p.R2059H|uc010fek.3,p.R2060H|ENST00000429174,p.R2063H|ENST00000409366,p.R2064H|NM_001130982,p.R2074H|ENST00000410020,p.R2081H|NM_001130977,p.R2049H|ENST00000409744,p.R2050H|uc010fem.3,p.R2064H|NM_001130981,p.R2080H|ENST00000410041,p.R2060H|ENST00000394120,p.R2043H|ENST00000409651,p.R2074H|NM_001130984,p.R2050H|ENST00000409582,p.R2080H|ENST00000409762,p.R2059H|uc010yqy.2,p.R923H|ENST00000413539,p.R2073H|NM_001130455,p.R2043H|NM_001130980,p.R2059H|NM_001130978,p.R2063H|NM_001130986,p.R2029H|uc010yqz.2,p.R803H|uc002sie.3,p.R2042H|NM_001130987,p.R2081H|NM_001130983,p.R2064H|uc002sif.3,p.R2043H|uc010fef.3,p.R2080H|uc010feg.3,p.R2073H|NM_003494,p.R2042H|uc010feo.3,p.R2074H|uc010fen.3,p.R2081H|uc002sig.4,p.R2028H|uc010fej.3,p.R2050H|uc010fee.3,p.R2063H|NM_001130979,p.R2073H|NM_001130976,p.R2028H|ENST00000258104,p.R2042H|uc010fel.3,p.R2029H|NM_001130985,p.R2060H|uc010feh.3,p.R2049H	protein_coding, processed_transcript	uc010yqz.2	nonsynonymous SNV	exon21	c.G2408A	p.R803H	SPYKTMKFILWRRFRWAIILFIILF	SPYKTMKFILWRHFRWAIILFIILF	7.0	10.0	-	-	4278_2:71909728-71909728 G>A_SPYKTMKFILWRHFRWAIILFIILF
16:53261494-53261494 ->G	1.0	4278	COLON	-	-	-	-	CHD9	uc002ehb.3,p.F716fs|ENST00000398510,p.F716fs|uc002egy.3,p.F716fs|ENST00000566029,p.F716fs|ENST00000447540,p.F716fs|uc002ehd.2,p.F242fs|ENST00000565803,p.F242fs|ENST00000564845,p.F716fs|uc002ehc.3,p.F716fs|NM_025134,p.F716fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ehd.2	frameshift insertion	exon6	c.725_726insG	p.F242fs	EISPGVMIDTEEFFVKYKNYSYLHC	EISPGVMIDTEELFCKIQELLLSSL	9.0	1.0	-	-	4278_16:53261494-53261494 ->G_EISPGVMIDTEELFCKIQELLLSSL
10:99190138-99190138 G>T	1.0	4278	COLON	-	-	-	-	PGAM1	uc010qov.2,p.A33S	protein_coding, processed_transcript	uc010qov.2	nonsynonymous SNV	exon2	c.G97T	p.A33S	PSQMKQNAGQSDAGYEFDICFTSVQ	PSQMKQNAGQSDSGYEFDICFTSVQ	10.0	4.0	-	-	4278_10:99190138-99190138 G>T_PSQMKQNAGQSDSGYEFDICFTSVQ
13:108863111-108863111 T>-	1.0	4278	COLON	-	-	-	-	LIG4	uc010agf.3,p.K169fs|uc001vqp.3,p.K169fs|ENST00000442234,p.K169fs|ENST00000356922,p.K169fs|NM_002312,p.K169fs|uc001vqo.3,p.K169fs|uc001vqn.3,p.K169fs|uc021rmk.1,p.K169fs|uc010agg.1,p.K102fs|ENST00000405925,p.K169fs|NM_001098268,p.K169fs|NM_206937,p.K169fs	protein_coding	uc021rmk.1	frameshift deletion	exon1	c.506delA	p.K169fs	SNNSAKRKDLIKKSLLQLITQSSAL	SNNSAKRKDLIKRAFFNL	8.0	3.0	unscreened	-	4278_13:108863111-108863111 T>-_SNNSAKRKDLIKRAFFNL
19:44610887-44610887 C>T	1.0	4278	COLON	-	-	-	-	ZNF224	ENST00000336976,p.R192C|uc002oyh.2,p.R192C|NM_013398,p.R192C	retained_intron, protein_coding, processed_transcript	uc002oyh.2	nonsynonymous SNV	exon6	c.C574T	p.R192C	ECGKNFCYISALRIHQRVHMGEKCY	ECGKNFCYISALCIHQRVHMGEKCY	8.0	1.0	-	-	4278_19:44610887-44610887 C>T_ECGKNFCYISALCIHQRVHMGEKCY
6:13327094-13327094 A>G	1.0	4278	COLON	-	-	-	-	TBC1D7	ENST00000428109,p.Y13H|uc003nal.3,p.Y13H|ENST00000421203,p.Y13H|ENST00000379291,p.Y13H|ENST00000607658,p.Y13H|ENST00000606541,p.Y13H|NM_001143966,p.Y13H|uc003naj.3,p.Y13H|NM_001143964,p.Y13H|NM_001143965,p.Y13H|ENST00000379300,p.Y13H|ENST00000606370,p.Y13H|ENST00000416436,p.Y13H|ENST00000422136,p.Y13H|ENST00000343141,p.Y13H|uc003naq.3,p.Y13H|ENST00000607230,p.Y13H|uc003nan.3,p.Y13H|NM_001258457,p.Y13H|ENST00000450347,p.Y13H|ENST00000452989,p.Y13H|ENST00000379307,p.Y13H|ENST00000420456,p.Y13H|ENST00000606214,p.Y13H|uc003nao.3,p.Y13H|uc010jpd.4,p.Y13H|uc003nam.3,p.Y13H|ENST00000356436,p.Y13H|NM_016495,p.Y13H|ENST00000446018,p.Y13H	protein_coding	uc010jpd.4	nonsynonymous SNV	exon2	c.T37C	p.Y13H	MTEDSQRNFRSVYYEKVGFRGVEEK	MTEDSQRNFRSVHYEKVGFRGVEEK	9.0	4.0	-	-	4278_6:13327094-13327094 A>G_MTEDSQRNFRSVHYEKVGFRGVEEK
3:49349908-49349908 A>-	0.0	4278	COLON	-	-	-	-	USP4	ENST00000416417,p.F278fs|uc021wxv.1,p.F278fs|NM_001251877,p.F278fs	retained_intron, protein_coding, processed_transcript	uc021wxv.1	frameshift deletion	exon7	c.834delT	p.F278fs	RVAPSHLANFFFFEMESHSVTKLEC	RVAPSHLANFFFLRWSLTLSPSWSAVVQSRLTPGFK	9.0	2.0	unscreened	-	4278_3:49349908-49349908 A>-_RVAPSHLANFFFLRWSLTLSPSWSAVVQSRLTPGFK
5:140481134-140481134 A>G	0.0	4278	COLON	-	-	-	-	PCDHB3	NM_018937,p.M301V|uc003lio.3,p.M301V|ENST00000231130,p.M301V	protein_coding	uc003lio.3	nonsynonymous SNV	exon1	c.A901G	p.M301V	RKTFQLNPITGDMQLVKYLNFEAIN	RKTFQLNPITGDVQLVKYLNFEAIN	7.0	5.0	-	-	4278_5:140481134-140481134 A>G_RKTFQLNPITGDVQLVKYLNFEAIN
2:222428969-222428969 T>G	0.0	4278	COLON	-	-	-	-	EPHA4	ENST00000409854,p.K102T|ENST00000392071,p.K51T|ENST00000541600,p.K102T|ENST00000281821,p.K102T|uc010zlm.1,p.K43T|ENST00000409938,p.K102T|ENST00000419964,p.K43T|uc002vmr.2,p.K102T|uc002vmq.3,p.K102T|NM_004438,p.K102T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zlm.1	nonsynonymous SNV	exon2	c.A128C	p.K43T	TREGAQRVYIEIKFTLRDCNSLPGV	TREGAQRVYIEITFTLRDCNSLPGV	7.0	4.0	-	-	4278_2:222428969-222428969 T>G_TREGAQRVYIEITFTLRDCNSLPGV
16:54319785-54319785 G>T	0.0	4278	COLON	-	-	-	-	IRX3	NM_024336,p.P60T|ENST00000329734,p.P60T|uc002eht.1,p.P60T	protein_coding	uc002eht.1	nonsynonymous SNV	exon1	c.C178A	p.P60T	SLSNVLSSVYGAPYAAAAAAAAAQG	SLSNVLSSVYGATYAAAAAAAAAQG	6.0	3.0	unscreened	-	4278_16:54319785-54319785 G>T_SLSNVLSSVYGATYAAAAAAAAAQG
X:105279269-105279269 A>G	1.0	4278	COLON	-	-	-	-	SERPINA7	uc010npe.2,p.Y244H|ENST00000372563,p.Y244H|ENST00000327674,p.Y244H|NM_000354,p.Y244H|uc010npd.3,p.Y244H|uc004eme.2,p.Y244H	protein_coding, processed_transcript	uc010npe.2	nonsynonymous SNV	exon3	c.T730C	p.Y244H	TVQVPMMHQMEQYYHLVDMELNCTV	TVQVPMMHQMEQHYHLVDMELNCTV	5.0	9.0	-	-	4278_X:105279269-105279269 A>G_TVQVPMMHQMEQHYHLVDMELNCTV
13:41345132-41345157 CGCTGAACTGCGGTACCTGACTGTTC>-	0.0	4278	COLON	-	-	-	-	MRPS31	NM_005830,p.G39fs|ENST00000323563,p.G39fs|uc001uxm.4,p.G39fs	protein_coding, processed_transcript	uc001uxm.4	frameshift deletion	exon1	c.116_141del	p.G39fs	SAAAIMLLTVRHGTVRYRSSALLAR	SAAAIMLLTVRHAVGPDKK	9.0	4.0	-	-	4278_13:41345132-41345157 CGCTGAACTGCGGTACCTGACTGTTC>-_SAAAIMLLTVRHAVGPDKK
5:140186956-140186956 C>T	0.0	4278	COLON	-	-	-	-	PCDHA4	uc011daa.2,p.R62C|NM_018907,p.R62C|ENST00000356878,p.R62C|uc003lhi.2,p.R62C|ENST00000512229,p.R62C|uc003lhh.1,p.R62C|ENST00000530339,p.R62C|NM_031500,p.R62C	protein_coding	uc011daa.2	nonsynonymous SNV	exon1	c.C184T	p.R62C	QDLGLELAELVPRLFRVASKGRGGL	QDLGLELAELVPCLFRVASKGRGGL	6.0	8.0	-	-	4278_5:140186956-140186956 C>T_QDLGLELAELVPCLFRVASKGRGGL
17:4349457-4349457 G>A	0.0	4278	COLON	-	-	-	-	SPNS3	ENST00000355530,p.V173M|ENST00000333476,p.V46M|uc002fxt.3,p.V173M|NM_182538,p.V173M|uc002fxu.3,p.V46M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002fxu.3	nonsynonymous SNV	exon3	c.G136A	p.V46M	LGDLFVRDQRTRVLAVFYIFIPVGS	LGDLFVRDQRTRMLAVFYIFIPVGS	6.0	10.0	-	-	4278_17:4349457-4349457 G>A_LGDLFVRDQRTRMLAVFYIFIPVGS
5:140182644-140182644 C>T	0.0	4278	COLON	-	-	-	-	PCDHA3	ENST00000522353,p.P621L|uc011czz.2,p.P621L|NM_018906,p.P621L|ENST00000532566,p.P621L|uc003lhf.2,p.P621L|NM_031497,p.P621L	protein_coding	uc011czz.2	nonsynonymous SNV	exon1	c.C1862T	p.P621L	YELQPGTGGARIPFRVGLYTGEIST	YELQPGTGGARILFRVGLYTGEIST	6.0	10.0	-	-	4278_5:140182644-140182644 C>T_YELQPGTGGARILFRVGLYTGEIST
8:100866382-100866382 C>G	0.0	4278	COLON	-	-	-	-	VPS13B	ENST00000357162,p.L3589V|ENST00000358544,p.L3614V|uc003yiv.4,p.L3614V|NM_017890,p.L3614V|uc003yiw.4,p.L3589V|NM_152564,p.L3589V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yiw.4	nonsynonymous SNV	exon56	c.C10765G	p.L3589V	SLKLYIASDHTPLSFSVFERGPIFT	SLKLYIASDHTPVSFSVFERGPIFT	8.0	6.0	-	-	4278_8:100866382-100866382 C>G_SLKLYIASDHTPVSFSVFERGPIFT
16:19718494-19718494 T>G	1.0	4278	COLON	-	-	-	-	KNOP1	uc002dgq.3,p.Q372P|ENST00000219837,p.Q372P|ENST00000568230,p.Q51P|NM_001012991,p.Q372P	retained_intron, protein_coding	uc002dgq.3	nonsynonymous SNV	exon5	c.A1115C	p.Q372P	GQWDTAGFENEDQKLKFLRLMGGFK	GQWDTAGFENEDPKLKFLRLMGGFK	8.0	7.0	-	-	4278_16:19718494-19718494 T>G_GQWDTAGFENEDPKLKFLRLMGGFK
9:140110812-140110812 G>A	1.0	4278	COLON	-	-	-	-	NDOR1	ENST00000458322,p.A573T|ENST00000344894,p.A580T|NM_001144028,p.A573T|NM_014434,p.A580T|uc011mes.2,p.A573T|ENST00000371521,p.A589T|uc004clw.3,p.A580T|NM_001144026,p.A589T|uc004clx.3,p.A589T	protein_coding	uc011mes.2	nonsynonymous SNV	exon14	c.G1717A	p.A573T	QEEGGLCSPDAAAYLARLQQTRRFQ	QEEGGLCSPDAATYLARLQQTRRFQ	6.0	9.0	-	-	4278_9:140110812-140110812 G>A_QEEGGLCSPDAATYLARLQQTRRFQ
22:25023444-25023444 G>T	1.0	4278	COLON	-	-	ID=COSM1130480;OCCURENCE=1(prostate)	-	GGT1	ENST00000425895,p.G363V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000425895	nonsynonymous SNV	exon11	c.G1088T	p.G363V	QHDLRVLRCPAPGPDL	QHDLRVLRCPAPVPDL	8.0	3.0	unscreened	-	4278_22:25023444-25023444 G>T_QHDLRVLRCPAPVPDL
12:64041124-64041124 A>G	0.0	4278	COLON	-	-	-	-	DPY19L2	uc001srp.1,p.C204R|ENST00000324472,p.C204R|NM_173812,p.C204R	retained_intron, protein_coding, nonsense_mediated_decay	uc001srp.1	nonsynonymous SNV	exon5	c.T610C	p.C204R	HLYPEVIIASWYCTFMGIMNLFGLE	HLYPEVIIASWYRTFMGIMNLFGLE	6.0	1.0	-	-	4278_12:64041124-64041124 A>G_HLYPEVIIASWYRTFMGIMNLFGLE
19:40886834-40886834 G>T	0.0	4278	COLON	-	-	-	-	HIPK4	uc002onp.3,p.A355D|NM_144685,p.A355D|ENST00000291823,p.A355D	protein_coding	uc002onp.3	nonsynonymous SNV	exon3	c.C1064A	p.A355D	RHPFVSMQQLRSAHETTHYYQLSLR	RHPFVSMQQLRSDHETTHYYQLSLR	3.0	5.0	-	-	4278_19:40886834-40886834 G>T_RHPFVSMQQLRSDHETTHYYQLSLR
14:31833417-31833417 ->A	0.0	4278	COLON	-	-	-	-	HEATR5A	ENST00000404677,p.L683fs|NM_015473,p.L683fs|ENST00000389961,p.L677fs|uc010tpk.1,p.L683fs|ENST00000543095,p.L683fs|uc001wrf.4,p.L683fs|ENST00000439727,p.L390fs|uc001wrg.1,p.L272fs|ENST00000439348,p.L677fs|uc010ami.3,p.L288fs	retained_intron, protein_coding	uc010tpk.1	frameshift insertion	exon16	c.2048dupT	p.L683fs	VVYRQRLYELLILLPPETYEGNLCA	VVYRQRLYELLIFITS	9.0	9.0	-	-	4278_14:31833417-31833417 ->A_VVYRQRLYELLIFITS
1:201980333-201980334 CT>-	1.0	4278	COLON	-	-	-	2	ELF3	uc001gxg.4,p.D23fs|ENST00000446188,p.D23fs|ENST00000367283,p.D23fs|NM_004433,p.D23fs|uc001gxh.4,p.D23fs|ENST00000367284,p.D23fs|uc001gxi.4,p.D23fs|NM_001114309,p.D23fs|ENST00000359651,p.D23fs	protein_coding, processed_transcript	uc001gxi.4	frameshift deletion	exon2	c.69_70del	p.D23fs	FSNYFSAMYSSEDSTLASVPPAATF	FSNYFSAMYSSEDHPGLCSPCCHLWGR	10.0	5.0	-	-	4278_1:201980333-201980334 CT>-_FSNYFSAMYSSEDHPGLCSPCCHLWGR
19:46145475-46145475 G>A	0.0	4278	COLON	-	-	-	-	EML2	NM_001193268,p.A103V|ENST00000588172,p.A37V|NM_001193269,p.A49V|uc010xxl.2,p.A49V|ENST00000536630,p.A49V|ENST00000399594,p.A60V|ENST00000587152,p.A103V|uc010ekl.3,p.A103V|uc010xxm.2,p.A103V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xxm.2	nonsynonymous SNV	exon2	c.C308T	p.A103V	KAALADALRRLRACEEQGAALRARG	KAALADALRRLRVCEEQGAALRARG	9.0	8.0	-	-	4278_19:46145475-46145475 G>A_KAALADALRRLRVCEEQGAALRARG
4:70066306-70066306 T>C	0.0	4278	COLON	-	rs200852364	-	-	UGT2B11	uc003heh.3,p.H481R|NM_001073,p.H481R|ENST00000446444,p.H481R	retained_intron, protein_coding	uc003heh.3	nonsynonymous SNV	exon6	c.A1442G	p.H481R	PHKGAKHLRVAAHDLTWFQYHSLDV	PHKGAKHLRVAARDLTWFQYHSLDV	3.0	1.0	unscreened	-	4278_4:70066306-70066306 T>C_PHKGAKHLRVAARDLTWFQYHSLDV
1:55161057-55161057 T>C	1.0	4278	COLON	-	-	-	-	MROH7	ENST00000339553,p.V953A|ENST00000395690,p.V953A|ENST00000409996,p.V521A|NM_001039464,p.V953A|uc010ood.1,p.V471A|uc010oog.1,p.V953A|uc001cxu.3,p.V99A|uc009vzr.1,p.V155A|ENST00000421030,p.V953A|ENST00000454855,p.V471A|NM_001291332,p.V471A|ENST00000414150,p.V953A|uc010ooe.1,p.V953A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010oog.1	nonsynonymous SNV	exon15	c.T2858C	p.V953A	HHRGVALLARAMVQYSCQELCRILY	HHRGVALLARAMAQYSCQELCRILY	5.0	10.0	-	-	4278_1:55161057-55161057 T>C_HHRGVALLARAMAQYSCQELCRILY
2:130832127-130832127 C>T	1.0	4278	COLON	-	rs200243409	-	-	POTEF	ENST00000409914,p.G973D|NM_001099771,p.G973D|ENST00000357462,p.G973D|uc010fmh.2,p.G973D	protein_coding	uc010fmh.2	nonsynonymous SNV	exon17	c.G2918A	p.G973D	LFQPCFLGMESCGIHETTFNSIMKS	LFQPCFLGMESCDIHETTFNSIMKS	9.0	2.0	unscreened	-	4278_2:130832127-130832127 C>T_LFQPCFLGMESCDIHETTFNSIMKS
2:38301661-38301661 C>T	0.0	4278	COLON	-	-	-	-	CYP1B1	uc002rqo.2,p.D291N|ENST00000260630,p.D291N|NM_000104,p.D291N|ENST00000407341,p.D291N	protein_coding, processed_transcript	uc002rqo.2	nonsynonymous SNV	exon2	c.G871A	p.D291N	HCESLRPGAAPRDMMDAFILSAEKK	HCESLRPGAAPRNMMDAFILSAEKK	9.0	10.0	-	-	4278_2:38301661-38301661 C>T_HCESLRPGAAPRNMMDAFILSAEKK
3:3214554-3214554 G>C	1.0	4278	COLON	-	-	-	-	CRBN	uc003bpq.3,p.R145G|ENST00000432408,p.R144G|uc011aso.2,p.R82G|NM_016302,p.R145G|ENST00000231948,p.R145G|uc003bpr.3,p.R144G|NM_001173482,p.R144G	retained_intron, protein_coding	uc011aso.2	nonsynonymous SNV	exon3	c.C244G	p.R82G	AQFGTTAEIYAYREEQDFGIEIVKV	AQFGTTAEIYAYGEEQDFGIEIVKV	10.0	5.0	-	-	4278_3:3214554-3214554 G>C_AQFGTTAEIYAYGEEQDFGIEIVKV
1:208390435-208390435 G>A	1.0	4278	COLON	-	-	-	-	PLXNA2	uc001hha.4,p.S332L|NM_025179,p.S278L|ENST00000367033,p.S278L|uc001hgz.3,p.S278L	protein_coding, processed_transcript	uc001hha.4	nonsynonymous SNV	exon1	c.C995T	p.S332L	VAINSAGDLFYTSRIVRLCKDDPKF	VAINSAGDLFYTLRIVRLCKDDPKF	6.0	3.0	-	-	4278_1:208390435-208390435 G>A_VAINSAGDLFYTLRIVRLCKDDPKF
2:71576454-71576454 G>T	1.0	4278	COLON	-	-	-	-	ZNF638	uc002shx.3,p.V124F|uc002shw.3,p.V124F|ENST00000377802,p.V124F|uc002shy.3,p.V124F|ENST00000355812,p.V124F|ENST00000264447,p.V124F|NM_001252612,p.V124F|uc010fec.2,p.V230F|ENST00000437658,p.V124F|NM_001252613,p.V124F|uc002shz.3,p.V124F|NM_001014972,p.V124F|NM_014497,p.V124F|uc002sib.1,p.V124F|ENST00000409544,p.V124F|uc002sia.3,p.V124F	retained_intron, protein_coding, processed_transcript	uc010fec.2	nonsynonymous SNV	exon2	c.G688T	p.V230F	ASVAVKQSSVTQVTEQSPKVQSRYT	ASVAVKQSSVTQFTEQSPKVQSRYT	10.0	6.0	-	-	4278_2:71576454-71576454 G>T_ASVAVKQSSVTQFTEQSPKVQSRYT
11:118520881-118520881 G>A	1.0	4278	COLON	-	-	-	-	PHLDB1	ENST00000527898,p.V303M|ENST00000361417,p.V1252M|ENST00000524713,p.V395M|ENST00000356063,p.V1205M|uc001ptw.2,p.V607M|uc001ptx.2,p.V288M|uc001pts.3,p.V1252M|uc001ptt.3,p.V1205M|uc009zai.2,p.V288M|uc001ptv.2,p.V1067M|uc001ptr.2,p.V1252M|NM_015157,p.V1252M|NM_001144758,p.V1252M|NM_001144759,p.V1205M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zai.2	nonsynonymous SNV	exon10	c.G862A	p.V288M	ESSGHGVDTCLHVVLSSKVCRGYLV	ESSGHGVDTCLHMVLSSKVCRGYLV	8.0	5.0	unscreened	-	4278_11:118520881-118520881 G>A_ESSGHGVDTCLHMVLSSKVCRGYLV
22:25023444-25023444 G>T	1.0	4278	COLON	-	-	ID=COSM1130480;OCCURENCE=1(prostate)	-	GGT1	uc003aau.2,p.A356S|ENST00000400383,p.A356S|uc003aav.2,p.A356S|uc003aax.2,p.A356S|NM_001288833,p.A356S|NM_013430,p.A356S|ENST00000400382,p.A356S|uc003aan.1,p.A356S|NM_013421,p.A356S|uc003aat.1,p.A356S|ENST00000406383,p.A356S|ENST00000412658,p.A356S|uc003aas.1,p.A356S|ENST00000400380,p.A356S|ENST00000248923,p.A356S|uc003aaw.2,p.A356S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003aax.2	nonsynonymous SNV	exon12	c.G1066T	p.A356S	NMTSEFFAAQLRAQISDDTTHPISY	NMTSEFFAAQLRSQISDDTTHPISY	8.0	3.0	-	-	4278_22:25023444-25023444 G>T_NMTSEFFAAQLRSQISDDTTHPISY
2:43452735-43452745 TGGGCGCGGGG>-	0.0	4278	COLON	-	-	-	-	ZFP36L2	uc002rsv.4,p.H66fs|ENST00000282388,p.H66fs|NM_006887,p.H66fs	protein_coding	uc002rsv.4	frameshift deletion	exon2	c.198_208del	p.H66fs	RRHSASNLHALAHPAPSPGSCSPKF	RRHSASNLHALAQPRQLLAQVPGRR	9.0	10.0	-	-	4278_2:43452735-43452745 TGGGCGCGGGG>-_RRHSASNLHALAQPRQLLAQVPGRR
15:80253423-80253423 T>G	0.0	4278	COLON	-	-	-	-	BCL2A1	ENST00000267953,p.K172Q|uc002bfc.4,p.K172Q|NM_004049,p.K172Q	protein_coding	uc002bfc.4	nonsynonymous SNV	exon2	c.A514C	p.K172Q	VTGKICEMLSLLKQYC	VTGKICEMLSLLQQYC	8.0	4.0	-	-	4278_15:80253423-80253423 T>G_VTGKICEMLSLLQQYC
12:121125205-121125205 G>A	1.0	4278	COLON	-	-	-	-	MLEC	NM_014730,p.V36M|ENST00000412616,p.V36M|uc001tyy.1,p.V36M|ENST00000228506,p.V36M	protein_coding, processed_transcript	uc001tyy.1	nonsynonymous SNV	exon1	c.G106A	p.V36M	PAIRGPGLGVAGVAGAAGAGLPESV	PAIRGPGLGVAGMAGAAGAGLPESV	10.0	2.0	-	-	4278_12:121125205-121125205 G>A_PAIRGPGLGVAGMAGAAGAGLPESV
12:70071018-70071018 G>A	0.0	4278	COLON	-	-	-	-	BEST3	uc001svd.2,p.S219F|NM_032735,p.S219F|ENST00000552295,p.S113F|ENST00000488961,p.S57F|NM_001282613,p.S113F|ENST00000476098,p.S57F|NM_001282614,p.S219F|ENST00000553096,p.S113F|ENST00000331471,p.S219F|ENST00000330891,p.S219F|uc010stm.2,p.S113F|uc001svf.3,p.S57F|ENST00000547208,p.S91F|uc001svg.3,p.S219F|NM_152439,p.S57F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010stm.2	nonsynonymous SNV	exon4	c.C338T	p.S113F	LQSLMTEMNRYRSWCSLLFGYDWVG	LQSLMTEMNRYRFWCSLLFGYDWVG	1.0	4.0	-	-	4278_12:70071018-70071018 G>A_LQSLMTEMNRYRFWCSLLFGYDWVG
1:228403297-228403297 C>T	0.0	4278	COLON	-	-	-	-	OBSCN	NM_001271223,p.A621V|ENST00000284548,p.A621V|ENST00000570156,p.A621V|NM_052843,p.A621V|uc001hsn.4,p.A621V|uc001hsq.2,p.A621V|ENST00000422127,p.A621V|uc009xez.2,p.A621V|NM_001098623,p.A621V	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon6	c.C1862T	p.A621V	LAPKLAVRTPLKAVQAVEGGEVTFS	LAPKLAVRTPLKVVQAVEGGEVTFS	8.0	10.0	-	-	4278_1:228403297-228403297 C>T_LAPKLAVRTPLKVVQAVEGGEVTFS
8:69058492-69058492 T>G	0.0	4278	COLON	-	-	-	1	PREX2	NM_024870,p.V1379G|uc003xxv.1,p.V1379G|ENST00000288368,p.V1379G	protein_coding, processed_transcript	uc003xxv.1	nonsynonymous SNV	exon34	c.T4136G	p.V1379G	TYQAEGSRQALKVYFYIDSYHFEQL	TYQAEGSRQALKGYFYIDSYHFEQL	6.0	1.0	-	-	4278_8:69058492-69058492 T>G_TYQAEGSRQALKGYFYIDSYHFEQL
7:93516672-93516672 G>C	0.0	4278	COLON	-	-	-	-	TFPI2	ENST00000222543,p.P178A|NM_006528,p.P178A|uc003una.2,p.P167A|NM_001271003,p.P167A|uc003umy.2,p.P178A	retained_intron, protein_coding	uc003una.2	nonsynonymous SNV	exon4	c.C499G	p.P167A	LCSANVTRYYFNPRYRTCDAFTYTG	LCSANVTRYYFNARYRTCDAFTYTG	5.0	2.0	-	-	4278_7:93516672-93516672 G>C_LCSANVTRYYFNARYRTCDAFTYTG
2:72968569-72968569 C>T	1.0	4278	COLON	0	-	-	-	EXOC6B	uc002sij.2,p.R48H|uc010fep.3,p.R48H|ENST00000410104,p.R48H|NM_015189,p.R48H|ENST00000272427,p.R48H	protein_coding, processed_transcript, nonsense_mediated_decay	uc010fep.3	nonsynonymous SNV	exon2	c.G143A	p.R48H	TLRSVYDGEEHGRFMEKLETRIRNH	TLRSVYDGEEHGHFMEKLETRIRNH	9.0	10.0	-	-	4278_2:72968569-72968569 C>T_TLRSVYDGEEHGHFMEKLETRIRNH
11:5173229-5173229 C>T	0.0	4278	COLON	0.0041	-	-	-	OR52A1	ENST00000328942,p.R124H|ENST00000380367,p.R124H|NM_012375,p.R124H|uc010qyy.2,p.R124H	protein_coding	uc010qyy.2	nonsynonymous SNV	exon1	c.G371A	p.R124H	IESGILVAMALDRYVAICYPLRHAN	IESGILVAMALDHYVAICYPLRHAN	1.0	8.0	-	-	4278_11:5173229-5173229 C>T_IESGILVAMALDHYVAICYPLRHAN
11:20869220-20869220 C>T	0.0	4278	COLON	-	-	ID=COSM213828;OCCURENCE=1(breast)	-	NELL1	NM_201551,p.R143C|uc001mqf.3,p.R143C|uc009yid.3,p.R171C|NM_006157,p.R143C|NM_001288713,p.R171C|uc001mqe.3,p.R143C|ENST00000532434,p.R143C|ENST00000298925,p.R171C|ENST00000357134,p.R143C	retained_intron, protein_coding, processed_transcript	uc009yid.3	nonsynonymous SNV	exon5	c.C511T	p.R171C	HNGKPRTEALPYRMADGQWHKVALS	HNGKPRTEALPYCMADGQWHKVALS	5.0	10.0	-	-	4278_11:20869220-20869220 C>T_HNGKPRTEALPYCMADGQWHKVALS
11:6561133-6561133 C>A	1.0	4278	COLON	-	-	-	-	DNHD1	ENST00000254579,p.H1150N|NM_144666,p.H1150N|ENST00000527990,p.H1150N|uc001mdw.4,p.H1150N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001mdw.4	nonsynonymous SNV	exon18	c.C3448A	p.H1150N	INQVWQNENERIHAQETIRRLQRYW	INQVWQNENERINAQETIRRLQRYW	6.0	3.0	-	-	4278_11:6561133-6561133 C>A_INQVWQNENERINAQETIRRLQRYW
17:4349457-4349457 G>A	0.0	4278	COLON	-	-	-	-	SPNS3	ENST00000575194,p.R127H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000575194	nonsynonymous SNV	exon3	c.G380A	p.R127H	PGRPLREGPAHPRAGCLLHLYPRWK	PGRPLREGPAHPHAGCLLHLYPRWK	6.0	10.0	unscreened	-	4278_17:4349457-4349457 G>A_PGRPLREGPAHPHAGCLLHLYPRWK
6:170052098-170052098 C>T	0.0	4278	COLON	-	-	-	-	WDR27	NM_182552,p.R470Q|ENST00000423258,p.R343Q|NM_001202550,p.R343Q|uc003qwx.3,p.R470Q|ENST00000448612,p.R470Q|ENST00000333572,p.R470Q|uc003qwy.3,p.R343Q	retained_intron, protein_coding, processed_transcript	uc003qwy.3	nonsynonymous SNV	exon11	c.G1028A	p.R343Q	STKAASEQRRAARNVMKDQRLVFHS	STKAASEQRRAAQNVMKDQRLVFHS	7.0	1.0	-	-	4278_6:170052098-170052098 C>T_STKAASEQRRAAQNVMKDQRLVFHS
11:118520888-118520888 T>G	1.0	4278	COLON	-	-	-	-	PHLDB1	uc001ptr.2,p.L1254R|ENST00000361417,p.L1254R|ENST00000527898,p.L305R|uc001ptv.2,p.L1069R|NM_015157,p.L1254R|NM_001144758,p.L1254R|ENST00000524713,p.L397R|uc001ptt.3,p.L1207R|NM_001144759,p.L1207R|uc009zai.2,p.L290R|uc001ptw.2,p.L609R|uc001ptx.2,p.L290R|ENST00000356063,p.L1207R|uc001pts.3,p.L1254R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zai.2	nonsynonymous SNV	exon10	c.T869G	p.L290R	SGHGVDTCLHVVLSSKVCRGYLVKM	SGHGVDTCLHVVRSSKVCRGYLVKM	8.0	5.0	unscreened	-	4278_11:118520888-118520888 T>G_SGHGVDTCLHVVRSSKVCRGYLVKM
17:20000007-20000007 G>-	1.0	4278	COLON	-	-	-	2	SPECC1	ENST00000581973,p.G15fs|uc002gws.3,p.G15fs|ENST00000261503,p.G15fs|ENST00000395527,p.G15fs|ENST00000583482,p.G15fs|uc002gwq.3,p.G15fs|ENST00000583463,p.G15fs|ENST00000395529,p.G15fs|ENST00000583528,p.G15fs|uc010cqx.3,p.G15fs|NM_152904,p.G15fs|NM_001033553,p.G15fs|uc002gwr.3,p.G15fs|NM_001243439,p.G15fs|ENST00000580934,p.G15fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cqx.3	frameshift deletion	exon2	c.43delG	p.G15fs	SAAKPWNPAIRAGGHGPDRVRPLPA	SAAKPWNPAIRAGATAQTGCGLCLQPLPA	9.0	5.0	-	-	4278_17:20000007-20000007 G>-_SAAKPWNPAIRAGATAQTGCGLCLQPLPA
X:35820366-35820366 C>-	0.0	4278	COLON	-	-	-	-	MAGEB16	ENST00000399987,p.T18fs|NM_001099921,p.T18fs|ENST00000399988,p.T18fs|ENST00000399992,p.T50fs|ENST00000399989,p.T18fs|ENST00000399985,p.T18fs|uc010ngt.1,p.T18fs|uc022bus.1,p.T18fs	protein_coding	uc022bus.1	frameshift deletion	exon1	c.53delC	p.T18fs	ESPRCTHDQHLQTFSETQSLEVAQV	ESPRCTHDQHLQTSVRPRAWRLHRSPRLWRRPSSPPPIL	2.0	2.0	unscreened	-	4278_X:35820366-35820366 C>-_ESPRCTHDQHLQTSVRPRAWRLHRSPRLWRRPSSPPPIL
2:220344581-220344581 A>C	0.0	4278	COLON	-	-	-	-	SPEG	ENST00000312358,p.K1721T|NM_005876,p.K1721T|uc010fwg.3,p.K1721T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fwg.3	nonsynonymous SNV	exon24	c.A5162C	p.K1721T	YLHQSHVLHLDVKPENLLVWDGAAG	YLHQSHVLHLDVTPENLLVWDGAAG	6.0	7.0	-	-	4278_2:220344581-220344581 A>C_YLHQSHVLHLDVTPENLLVWDGAAG
X:48690522-48690555 GCGCCCCAGACGCGCAGCAGCTGCGCCAGGACGC>-	0.0	4278	COLON	-	-	-	-	PCSK1N	ENST00000218230,p.R104fs|NM_013271,p.R104fs|uc004dkz.4,p.R104fs	protein_coding, processed_transcript	uc004dkz.4	frameshift deletion	exon2	c.311_344del	p.R104fs	RAEAQEAEDQQARVLAQLLRVWGAP	RAEAQEAEDQQAPPATLIRLWAWTTTPTRLQRSSLALCSAPALTLPPSQPSLSPRPSPPRRSDPGPRSTTTAPRARMLRRQATRHPTWTPSC	4.0	3.0	-	-	4278_X:48690522-48690555 GCGCCCCAGACGCGCAGCAGCTGCGCCAGGACGC>-_RAEAQEAEDQQAPPATLIRLWAWTTTPTRLQRSSLALCSAPALTLPPSQPSLSPRPSPPRRSDPGPRSTTTAPRARMLRRQATRHPTWTPSC
1:158913738-158913738 A>C	0.0	4278	COLON	-	-	-	-	PYHIN1	ENST00000368140,p.K387N|ENST00000392254,p.K387N|uc001ftb.3,p.K387N|NM_198929,p.K387N|ENST00000392252,p.K378N|NM_198928,p.K378N|NM_198930,p.K378N|ENST00000368138,p.K378N|uc001fte.3,p.K378N|uc001ftc.3,p.K378N|NM_152501,p.K387N|uc001ftd.3,p.K387N	protein_coding, processed_transcript	uc001fte.3	nonsynonymous SNV	exon6	c.A1134C	p.K378N	FCFRLRKRENMSKLMSEMHSFIQIQ	FCFRLRKRENMSNLMSEMHSFIQIQ	6.0	9.0	-	-	4278_1:158913738-158913738 A>C_FCFRLRKRENMSNLMSEMHSFIQIQ
16:1550629-1550629 C>T	0.0	4278	COLON	-	-	-	-	TELO2	NM_016111,p.R404C|ENST00000262319,p.R404C|uc010uvg.1,p.R404C|uc002cly.3,p.R404C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uvg.1	nonsynonymous SNV	exon9	c.C1210T	p.R404C	KCRLDSSLPPVRRLGMIVAEVVSAR	KCRLDSSLPPVRCLGMIVAEVVSAR	7.0	8.0	-	-	4278_16:1550629-1550629 C>T_KCRLDSSLPPVRCLGMIVAEVVSAR
11:59211439-59211439 C>A	0.0	4278	COLON	-	-	-	-	OR5A1	NM_001004728,p.S266R|uc001nnx.1,p.S266R|ENST00000302030,p.S266R	protein_coding	uc001nnx.1	nonsynonymous SNV	exon1	c.C798A	p.S266R	LFGTALFVYLRPSSSYLLGRDKVVS	LFGTALFVYLRPRSSYLLGRDKVVS	1.0	9.0	-	-	4278_11:59211439-59211439 C>A_LFGTALFVYLRPRSSYLLGRDKVVS
19:21720133-21720133 T>A	0.0	4278	COLON	-	-	ID=COSM1559521;OCCURENCE=11(central_nervous_system)	2	ZNF429	ENST00000358491,p.N426K|NM_001001415,p.N426K|uc002nqd.1,p.N426K	protein_coding, processed_transcript	uc002nqd.1	nonsynonymous SNV	exon4	c.T1278A	p.N426K	QDKKIHTGEKPYNCEECGKVFTYSS	QDKKIHTGEKPYKCEECGKVFTYSS	9.0	1.0	unscreened	-	4278_19:21720133-21720133 T>A_QDKKIHTGEKPYKCEECGKVFTYSS
11:56230757-56230757 T>C	0.0	4278	COLON	-	-	-	-	OR5M9	ENST00000279791,p.I41V|NM_001004743,p.I41V|uc010rjj.2,p.I41V	protein_coding	uc010rjj.2	nonsynonymous SNV	exon1	c.A121G	p.I41V	FLAVYMITLLGNIGMIILISISPQL	FLAVYMITLLGNVGMIILISISPQL	1.0	1.0	-	-	4278_11:56230757-56230757 T>C_FLAVYMITLLGNVGMIILISISPQL
20:5283369-5283369 C>T	0.0	4278	COLON	-	-	-	-	PROKR2	ENST00000546004,p.V158I|uc010zqy.2,p.V158I|uc010zqx.2,p.V158I|uc010zqw.2,p.V158I|ENST00000217270,p.V158I|NM_144773,p.V158I	protein_coding	uc010zqy.2	nonsynonymous SNV	exon3	c.G472A	p.V158I	LLAIAIDRYLAIVHPLKPRMNYQTA	LLAIAIDRYLAIIHPLKPRMNYQTA	4.0	1.0	-	-	4278_20:5283369-5283369 C>T_LLAIAIDRYLAIIHPLKPRMNYQTA
4:96256651-96256651 T>G	0.0	4278	COLON	-	-	-	-	UNC5C	uc003htq.3,p.S86R|ENST00000513796,p.S86R|ENST00000504962,p.S86R|NM_003728,p.S86R|ENST00000453304,p.S86R|ENST00000506749,p.S86R|uc003hto.3,p.S86R|uc010ilc.2,p.S86R	protein_coding	uc010ilc.2	nonsynonymous SNV	exon2	c.A256C	p.S86R	VKNKPVNLYCKASPATQIYFKCNSE	VKNKPVNLYCKARPATQIYFKCNSE	6.0	5.0	-	-	4278_4:96256651-96256651 T>G_VKNKPVNLYCKARPATQIYFKCNSE
3:164907028-164907028 G>A	0.0	4278	COLON	-	-	-	-	SLITRK3	ENST00000475390,p.R531W|uc003fek.3,p.R531W|uc003fej.4,p.R531W|NM_014926,p.R531W|uc021xgy.1,p.R531W|ENST00000241274,p.R531W	protein_coding	uc021xgy.1	nonsynonymous SNV	exon1	c.C1591T	p.R531W	LPTDAFAGTSLARLNLRKNYFLYLP	LPTDAFAGTSLAWLNLRKNYFLYLP	3.0	10.0	-	-	4278_3:164907028-164907028 G>A_LPTDAFAGTSLAWLNLRKNYFLYLP
14:20928929-20928929 C>A	1.0	4278	COLON	-	-	-	-	TMEM55B	ENST00000398020,p.S80I|ENST00000250489,p.S73I|uc001vxk.2,p.S80I|uc001vxl.2,p.S73I|NM_001100814,p.S80I|NM_144568,p.S73I	retained_intron, protein_coding	uc001vxl.2	nonsynonymous SNV	exon2	c.G218T	p.S73I	PGEDPPPYSPLTSPDSGSAPMITCR	PGEDPPPYSPLTIPDSGSAPMITCR	8.0	6.0	-	-	4278_14:20928929-20928929 C>A_PGEDPPPYSPLTIPDSGSAPMITCR
8:117862919-117862919 C>T	1.0	4278	COLON	-	-	-	1	RAD21	ENST00000518055,p.E65K|uc003yod.3,p.E520K|ENST00000297338,p.E520K|NM_006265,p.E520K|ENST00000523986,p.E24K	retained_intron, protein_coding, processed_transcript	uc003yod.3	nonsynonymous SNV	exon12	c.G1558A	p.E520K	EPPNICQLIPELELLPEKEKEKEKE	EPPNICQLIPELKLLPEKEKEKEKE	10.0	6.0	-	-	4278_8:117862919-117862919 C>T_EPPNICQLIPELKLLPEKEKEKEKE
16:1550629-1550629 C>T	0.0	4278	COLON	-	-	-	-	TELO2	ENST00000497339,p.R404C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000497339	nonsynonymous SNV	exon9	c.C1210T	p.R404C	KCRLDSSLPPVRRLGMIVQIQLRGR	KCRLDSSLPPVRCLGMIVQIQLRGR	7.0	8.0	-	-	4278_16:1550629-1550629 C>T_KCRLDSSLPPVRCLGMIVQIQLRGR
1:1564642-1564642 G>A	1.0	4278	COLON	-	-	-	-	MIB2	uc009vkh.3,p.A642T|ENST00000357210,p.A836T|uc001agm.3,p.A713T|uc010nyq.2,p.A792T|uc001agh.3,p.A879T|NM_001170687,p.A879T|uc001agl.2,p.A792T|uc001agn.3,p.A468T|uc001agk.3,p.A828T|NM_001170686,p.A889T|NM_080875,p.A893T|uc001agg.3,p.A893T|ENST00000378710,p.A800T|uc001agj.3,p.A677T|uc001agi.3,p.A889T|ENST00000378708,p.A742T|ENST00000518681,p.A828T|ENST00000487053,p.A792T|NM_001170688,p.A828T|ENST00000505820,p.A893T|ENST00000504599,p.A792T|ENST00000360522,p.A801T|ENST00000520777,p.A889T|NM_001170689,p.A713T|ENST00000378712,p.A713T|ENST00000355826,p.A879T|ENST00000483015,p.A155T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010nyq.2	nonsynonymous SNV	exon16	c.G2374A	p.A792T	TNHRGRSPLDLAAEGRVLKALQGCA	TNHRGRSPLDLATEGRVLKALQGCA	7.0	10.0	-	-	4278_1:1564642-1564642 G>A_TNHRGRSPLDLATEGRVLKALQGCA
19:9077331-9077331 G>T	0.0	4278	COLON	-	-	ID=COSM1004038,COSM1004039;OCCURENCE=1(endometrium)	2	MUC16	ENST00000397910,p.P3372H|NM_024690,p.P3372H|uc002mkp.3,p.P3372H	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.C10115A	p.P3372H	VSLSTSSNILEDPVTSPNSVSSLTD	VSLSTSSNILEDHVTSPNSVSSLTD	7.0	4.0	-	-	4278_19:9077331-9077331 G>T_VSLSTSSNILEDHVTSPNSVSSLTD
19:37240648-37240648 C>A	0.0	4278	COLON	-	-	-	-	ZNF850	uc010xtm.3,p.A400S|NM_001267779,p.A400S|NM_001193552,p.A432S|uc010efc.3,p.A432S|ENST00000591344,p.A432S	protein_coding	uc010xtm.3	nonsynonymous SNV	exon4	c.G1198T	p.A400S	PYDCKECGKSFTAGSTLIQHQRIHT	PYDCKECGKSFTSGSTLIQHQRIHT	6.0	6.0	unscreened	-	4278_19:37240648-37240648 C>A_PYDCKECGKSFTSGSTLIQHQRIHT
12:55420904-55420904 A>C	0.0	4278	COLON	-	-	ID=COSM941223;OCCURENCE=1(endometrium)	-	NEUROD4	ENST00000242994,p.Q227H|uc021qyr.1,p.Q227H|NM_021191,p.Q227H|uc001sgp.4,p.Q227H	protein_coding	uc021qyr.1	nonsynonymous SNV	exon1	c.A681C	p.Q227H	GHMETHLLHLKPQVFKSLGESSFGS	GHMETHLLHLKPHVFKSLGESSFGS	5.0	5.0	-	-	4278_12:55420904-55420904 A>C_GHMETHLLHLKPHVFKSLGESSFGS
19:1805932-1805932 G>A	0.0	4278	COLON	-	-	-	-	ATP8B3	ENST00000310127,p.T259M|NM_001178002,p.T206M|NM_138813,p.T259M|ENST00000526092,p.T206M|uc002ltz.2,p.T206M|uc002ltw.4,p.T259M|uc002ltv.4,p.T206M|ENST00000539485,p.T259M|ENST00000525591,p.T206M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ltz.2	nonsynonymous SNV	exon9	c.C617T	p.T206M	NIVPADMLLLASTEPSSLCYVETVD	NIVPADMLLLASMEPSSLCYVETVD	3.0	7.0	-	-	4278_19:1805932-1805932 G>A_NIVPADMLLLASMEPSSLCYVETVD
1:24486080-24486080 G>A	1.0	4278	COLON	-	-	-	-	IFNLR1	ENST00000327535,p.T185I|NM_173065,p.T185I|NM_170743,p.T185I|uc001bis.3,p.T185I|NM_173064,p.T185I|ENST00000327575,p.T185I|uc001bir.3,p.T185I|ENST00000374421,p.T185I|ENST00000374419,p.T102I|uc001biu.3,p.T101I|uc001bit.3,p.T185I	protein_coding	uc001biu.3	nonsynonymous SNV	exon4	c.C302T	p.T101I	FPVTPHGQPVQITLQPAASEHHCLS	FPVTPHGQPVQIILQPAASEHHCLS	5.0	8.0	-	-	4278_1:24486080-24486080 G>A_FPVTPHGQPVQIILQPAASEHHCLS
9:111625513-111625513 C>T	0.0	4278	COLON	-	-	-	-	ACTL7A	ENST00000333999,p.P304L|NM_006687,p.P304L|uc004bdj.1,p.P304L	protein_coding	uc004bdj.1	nonsynonymous SNV	exon1	c.C911T	p.P304L	VPLSEHTIRYVLPDGKEIQLCQERF	VPLSEHTIRYVLLDGKEIQLCQERF	3.0	6.0	-	-	4278_9:111625513-111625513 C>T_VPLSEHTIRYVLLDGKEIQLCQERF
1:161332320-161332320 T>C	0.0	4278	COLON	-	-	-	1	SDHC	ENST00000342751,p.L148S|NM_001278172,p.L114S|uc001gak.3,p.L114S|uc001gai.3,p.L148S|NM_001035511,p.L148S|ENST00000513009,p.L114S	protein_coding, processed_transcript, nonsense_mediated_decay	uc001gak.3	nonsynonymous SNV	exon4	c.T341C	p.L114S	LSFLSPAWEKFSLFV	LSFLSPAWEKFSSFV	10.0	3.0	unscreened	-	4278_1:161332320-161332320 T>C_LSFLSPAWEKFSSFV
19:18779361-18779361 G>A	0.0	4278	COLON	-	-	-	-	KLHL26	NM_018316,p.R385H|uc002njz.1,p.R385H|ENST00000300976,p.R385H	protein_coding, processed_transcript, nonsense_mediated_decay	uc002njz.1	nonsynonymous SNV	exon3	c.G1154A	p.R385H	YRSGEGAVDACYRYDPHLNRWLRLQ	YRSGEGAVDACYHYDPHLNRWLRLQ	5.0	7.0	-	-	4278_19:18779361-18779361 G>A_YRSGEGAVDACYHYDPHLNRWLRLQ
11:5530313-5530313 C>T	0.0	4278	COLON	0.0023	-	-	-	UBQLN3	ENST00000311659,p.R159Q|uc001may.1,p.R159Q|NM_017481,p.R159Q|ENST00000445998,p.R159Q|uc021qcw.1,p.R159Q	protein_coding	uc021qcw.1	nonsynonymous SNV	exon1	c.G476A	p.R159Q	YRGFPDQPSSLMRQHVSVPEFVTQL	YRGFPDQPSSLMQQHVSVPEFVTQL	1.0	9.0	-	-	4278_11:5530313-5530313 C>T_YRGFPDQPSSLMQQHVSVPEFVTQL
2:141116488-141116488 G>T	0.0	4278	COLON	-	-	-	1	LRP1B	uc002tvj.1,p.P3720H|ENST00000389484,p.P3720H|NM_018557,p.P3720H	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon73	c.C11159A	p.P3720H	DMCVKFLCPSTRPHRCRNNRICLQS	DMCVKFLCPSTRHHRCRNNRICLQS	3.0	1.0	-	-	4278_2:141116488-141116488 G>T_DMCVKFLCPSTRHHRCRNNRICLQS
1:231298819-231298819 C>T	0.0	4278	COLON	-	-	-	-	TRIM67	ENST00000449018,p.A35V|NM_001300889,p.A35V	protein_coding	NM_001300889	nonsynonymous SNV	exon1	c.C104T	p.A35V	SHNVCLPCARTIAVQTPDGGSAAGG	SHNVCLPCARTIVVQTPDGGSAAGG	1.0	6.0	-	-	4278_1:231298819-231298819 C>T_SHNVCLPCARTIVVQTPDGGSAAGG
1:231298819-231298819 C>T	0.0	4278	COLON	-	-	-	-	TRIM67	ENST00000366653,p.A35V|ENST00000444294,p.A35V|ENST00000366652,p.A35V|uc009xfn.1,p.A35V|NM_001004342,p.A35V	protein_coding	uc009xfn.1	nonsynonymous SNV	exon1	c.C104T	p.A35V	SHNVCLPCARTIAVQTPDGEQHLPQ	SHNVCLPCARTIVVQTPDGEQHLPQ	1.0	6.0	-	-	4278_1:231298819-231298819 C>T_SHNVCLPCARTIVVQTPDGEQHLPQ
10:129904200-129904200 C>A	1.0	4278	COLON	-	-	-	-	MKI67	uc009yaw.1,p.E1118D|NM_001145966,p.E1608D|ENST00000368653,p.E1608D|uc009yav.1,p.E1543D|ENST00000368654,p.E1968D|uc001lkf.3,p.E1608D|NM_002417,p.E1968D|uc001lke.3,p.E1968D	protein_coding, processed_transcript	uc009yaw.1	nonsynonymous SNV	exon2	c.G3354T	p.E1118D	GFKELFQTPGHTEESMTDDKITEVS	GFKELFQTPGHTDESMTDDKITEVS	9.0	8.0	-	-	4278_10:129904200-129904200 C>A_GFKELFQTPGHTDESMTDDKITEVS
7:141618713-141618713 T>A	0.0	4278	COLON	-	-	-	-	OR9A4	uc003vwu.1,p.L13H|ENST00000548136,p.L13H|NM_001001656,p.L13H	protein_coding	uc003vwu.1	nonsynonymous SNV	exon1	c.T38A	p.L13H	MLMNYSSATEFYLLGFPGSEELHHI	MLMNYSSATEFYHLGFPGSEELHHI	3.0	4.0	-	-	4278_7:141618713-141618713 T>A_MLMNYSSATEFYHLGFPGSEELHHI
X:54955186-54955186 C>A	0.0	4278	COLON	-	-	-	-	TRO	ENST00000420798,p.P208T|NM_001039705,p.P677T|ENST00000375041,p.P280T|uc004dtx.4,p.P60T|uc004dtw.4,p.P280T|NM_001271183,p.P208T|NM_001271184,p.P280T|uc004dtq.4,p.P677T|ENST00000173898,p.P677T|uc011mok.3,p.P208T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011mok.3	nonsynonymous SNV	exon10	c.C622A	p.P208T	AQMGIGEEAVAGPWNWDDMDIDCLT	AQMGIGEEAVAGTWNWDDMDIDCLT	7.0	7.0	-	-	4278_X:54955186-54955186 C>A_AQMGIGEEAVAGTWNWDDMDIDCLT
11:26582628-26582628 A>C	1.0	4278	COLON	-	-	-	-	MUC15	ENST00000455601,p.L330R|ENST00000281268,p.L307R|NM_145650,p.L330R|uc001mqw.3,p.L357R|ENST00000529533,p.L357R|NM_001135092,p.L307R|ENST00000436318,p.L357R|uc001mqx.3,p.L330R|ENST00000527569,p.L307R|NM_001135091,p.L357R|uc001mqy.3,p.L307R	protein_coding	uc001mqy.3	nonsynonymous SNV	exon4	c.T920G	p.L307R	ARDGIPMDDIPPLRTSV	ARDGIPMDDIPPRRTSV	5.0	2.0	-	-	4278_11:26582628-26582628 A>C_ARDGIPMDDIPPRRTSV
4:62813845-62813845 T>C	0.0	4278	COLON	-	-	-	-	LPHN3	uc003hcq.4,p.C818R|ENST00000512091,p.C818R|ENST00000506720,p.C886R|uc003hct.3,p.C211R|uc010ihh.3,p.C818R|NM_015236,p.C818R|ENST00000514591,p.C818R|ENST00000508693,p.C886R|ENST00000514157,p.C818R|ENST00000507164,p.C886R|ENST00000507625,p.C886R|ENST00000506746,p.C886R|ENST00000506700,p.C818R|ENST00000504896,p.C818R|ENST00000545650,p.C818R|ENST00000508946,p.C818R|ENST00000509896,p.C886R|ENST00000511324,p.C886R|ENST00000514996,p.C818R	retained_intron, protein_coding, processed_transcript	uc010ihh.3	nonsynonymous SNV	exon14	c.T2452C	p.C818R	HIKQSEENFNPNCSFWSYSKRTMTG	HIKQSEENFNPNRSFWSYSKRTMTG	5.0	6.0	-	-	4278_4:62813845-62813845 T>C_HIKQSEENFNPNRSFWSYSKRTMTG
19:36051292-36051292 C>T	0.0	4278	COLON	-	-	-	-	ATP4A	uc002oal.1,p.A254T|NM_000704,p.A254T|ENST00000262623,p.A254T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002oal.1	nonsynonymous SNV	exon6	c.G760A	p.A254T	CTHESPLETRNIAFFSTMCLEGTVQ	CTHESPLETRNITFFSTMCLEGTVQ	4.0	4.0	-	-	4278_19:36051292-36051292 C>T_CTHESPLETRNITFFSTMCLEGTVQ
17:33884799-33884799 ->TT	1.0	4278	COLON	-	-	-	-	SLFN14	NM_001129820,p.Y95fs|uc010ctu.1,p.Y95fs|ENST00000415846,p.Y95fs	protein_coding	uc010ctu.1	frameshift insertion	exon1	c.282_283insAA	p.Y95fs	SFQKLLPSGSQKYLDYMQQGHNLLI	SFQKLLPSGSQKNTLTTCSRGTIS	6.0	10.0	-	-	4278_17:33884799-33884799 ->TT_SFQKLLPSGSQKNTLTTCSRGTIS
9:121929606-121929606 G>T	0.0	4278	COLON	-	-	-	-	BRINP1	ENST00000265922,p.T681K|NM_014618,p.T681K|uc004bkc.2,p.T681K	protein_coding, processed_transcript	uc004bkc.2	nonsynonymous SNV	exon8	c.C2042A	p.T681K	LRSAVQQVNQSYTQGGQFYSSSSVM	LRSAVQQVNQSYKQGGQFYSSSSVM	6.0	3.0	-	-	4278_9:121929606-121929606 G>T_LRSAVQQVNQSYKQGGQFYSSSSVM
5:131877804-131877804 C>T	0.0	4278	COLON	-	-	-	-	IL5	NM_000879,p.G70E|ENST00000450655,p.G36E|uc003kxe.1,p.G70E|ENST00000231454,p.G70E	retained_intron, protein_coding	uc003kxe.1	nonsynonymous SNV	exon3	c.G209A	p.G70E	KNHQLCTEEIFQGIGTLESQTVQGG	KNHQLCTEEIFQEIGTLESQTVQGG	2.0	1.0	-	-	4278_5:131877804-131877804 C>T_KNHQLCTEEIFQEIGTLESQTVQGG
11:5566260-5566260 A>G	0.0	4278	COLON	-	-	-	-	OR52H1	NM_001005289,p.L165P|uc010qzh.2,p.L165P|ENST00000322653,p.L165P	protein_coding	uc010qzh.2	nonsynonymous SNV	exon1	c.T494C	p.L165P	AMGISFRSFCIILPDVFLLTCLPFC	AMGISFRSFCIIPPDVFLLTCLPFC	1.0	2.0	unscreened	-	4278_11:5566260-5566260 A>G_AMGISFRSFCIIPPDVFLLTCLPFC
7:113558853-113558853 C>A	0.0	4278	COLON	-	-	-	-	PPP1R3A	uc010ljy.1,p.A67S|NM_002711,p.A67S|ENST00000284601,p.A67S	protein_coding, nonsense_mediated_decay	uc010ljy.1	nonsynonymous SNV	exon1	c.G199T	p.A67S	DTPSSGTRRVSFADSFGFNLVSVKE	DTPSSGTRRVSFSDSFGFNLVSVKE	4.0	3.0	unscreened	-	4278_7:113558853-113558853 C>A_DTPSSGTRRVSFSDSFGFNLVSVKE
10:99190138-99190138 G>T	1.0	4278	COLON	-	-	-	-	PGAM1	uc001knh.3,p.A48S|NM_002629,p.A48S|ENST00000334828,p.A48S	protein_coding, processed_transcript	uc001knh.3	nonsynonymous SNV	exon2	c.G142T	p.A48S	EEAKRGGQALRDAGYEFDICFTSVQ	EEAKRGGQALRDSGYEFDICFTSVQ	10.0	4.0	-	-	4278_10:99190138-99190138 G>T_EEAKRGGQALRDSGYEFDICFTSVQ
3:440025-440025 T>A	0.0	4278	COLON	-	-	-	-	CHL1	uc003bou.3,p.D1054E|ENST00000256509,p.D1070E|uc003bot.3,p.D1070E|NM_006614,p.D1070E|NM_001253387,p.D1054E|uc003bow.2,p.D1054E|ENST00000397491,p.D1054E	protein_coding, processed_transcript, nonsense_mediated_decay	uc003bow.2	nonsynonymous SNV	exon24	c.T3162A	p.D1054E	EHIVRLMTKNWGDNDSIFQDVIETR	EHIVRLMTKNWGENDSIFQDVIETR	7.0	10.0	-	-	4278_3:440025-440025 T>A_EHIVRLMTKNWGENDSIFQDVIETR
13:101936359-101936359 T>G	0.0	4278	COLON	-	-	ID=COSM1365222;OCCURENCE=1(large_intestine)	-	NALCN	NM_052867,p.E353D|ENST00000376196,p.E353D|uc001voz.2,p.E353D|ENST00000251127,p.E353D|uc001voy.3,p.E68D|uc001vpa.2,p.E353D|uc001vox.1,p.E353D	retained_intron, protein_coding, processed_transcript	uc001vpa.2	nonsynonymous SNV	exon10	c.A1059C	p.E353D	STTSTATTQMFHEDAAGGWQLVAVD	STTSTATTQMFHDDAAGGWQLVAVD	6.0	1.0	-	-	4278_13:101936359-101936359 T>G_STTSTATTQMFHDDAAGGWQLVAVD
20:20144845-20144845 T>G	0.0	4278	COLON	-	-	-	-	CFAP61	NM_001167816,p.F393C|ENST00000451767,p.F393C|ENST00000377306,p.F393C|ENST00000340348,p.F347C|uc010zsf.1,p.F393C|uc010zse.2,p.F393C|ENST00000245957,p.F393C|uc002wru.3,p.F393C|NM_015585,p.F393C|uc010gcw.2,p.F347C	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zsf.1	nonsynonymous SNV	exon10	c.T1178G	p.F393C	YRGASAAFCIQLFCIDEKYEARSLD	YRGASAAFCIQLCCIDEKYEARSLD	4.0	3.0	-	-	4278_20:20144845-20144845 T>G_YRGASAAFCIQLCCIDEKYEARSLD
11:49207269-49207269 T>G	0.0	4278	COLON	-	-	-	-	FOLH1	NM_001193471,p.N245H|uc001ngz.3,p.N260H|ENST00000533034,p.N245H|ENST00000356696,p.N260H|uc001ngy.3,p.N260H|NM_004476,p.N260H|NM_001014986,p.N260H|ENST00000256999,p.N260H|uc009yly.3,p.N245H|uc009ylz.3,p.N245H|ENST00000340334,p.N245H|NM_001193472,p.N245H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009ylz.3	nonsynonymous SNV	exon7	c.A733C	p.N245H	LPGGGVQRGNILNLNGAGDPLTPGY	LPGGGVQRGNILHLNGAGDPLTPGY	6.0	4.0	-	-	4278_11:49207269-49207269 T>G_LPGGGVQRGNILHLNGAGDPLTPGY
4:104640742-104640742 C>T	0.0	4278	COLON	-	-	-	-	TACR3	NM_001059,p.G31R|uc003hxe.1,p.G31R|ENST00000304883,p.G31R	protein_coding	uc003hxe.1	nonsynonymous SNV	exon1	c.G91A	p.G31R	ADAVNLTASLAAGAATGAVETGWLQ	ADAVNLTASLAARAATGAVETGWLQ	5.0	3.0	-	-	4278_4:104640742-104640742 C>T_ADAVNLTASLAARAATGAVETGWLQ
17:39280162-39280162 A>C	0.0	4278	COLON	-	-	-	-	KRTAP4-12	uc002hwa.3,p.C71W|NM_031854,p.C71W|ENST00000394014,p.C71W	protein_coding	uc002hwa.3	nonsynonymous SNV	exon1	c.T213G	p.C71W	TCCRPSCCQTTCCRTTCCRPSCCVS	TCCRPSCCQTTCWRTTCCRPSCCVS	5.0	1.0	unscreened	-	4278_17:39280162-39280162 A>C_TCCRPSCCQTTCWRTTCCRPSCCVS
11:55703216-55703216 A>G	0.0	4278	COLON	-	-	-	-	OR5I1	uc010ris.2,p.F221L|NM_006637,p.F221L|ENST00000301532,p.F221L	protein_coding	uc010ris.2	nonsynonymous SNV	exon1	c.T661C	p.F221L	EIICFIIIIISYFFILLSVLKIRSF	EIICFIIIIISYLFILLSVLKIRSF	1.0	4.0	-	-	4278_11:55703216-55703216 A>G_EIICFIIIIISYLFILLSVLKIRSF
12:75434899-75434899 A>G	0.0	4278	COLON	-	-	-	-	KCNC2	uc009zry.4,p.L623P|NM_001260498,p.L623P|ENST00000341669,p.L623P|ENST00000550433,p.L623P	protein_coding, processed_transcript	uc009zry.4	nonsynonymous SNV	exon5	c.T1868C	p.L623P	EFSHTKDYTGNRLLLLNVP	EFSHTKDYTGNRPLLLNVP	3.0	2.0	-	-	4278_12:75434899-75434899 A>G_EFSHTKDYTGNRPLLLNVP
14:100380547-100380547 T>A	0.0	4278	COLON	-	-	-	-	EML1	NM_004434,p.V509E|uc010tww.2,p.V497E|uc001ygr.3,p.V528E|ENST00000262233,p.V509E|uc001ygs.3,p.V509E|ENST00000334192,p.V528E|ENST00000327921,p.V497E|NM_001008707,p.V528E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tww.2	nonsynonymous SNV	exon15	c.T1490A	p.V497E	TEIPEQFGPIRTVAEGKGDVILIGT	TEIPEQFGPIRTEAEGKGDVILIGT	8.0	9.0	-	-	4278_14:100380547-100380547 T>A_TEIPEQFGPIRTEAEGKGDVILIGT
12:18435341-18435341 T>G	0.0	4278	COLON	-	-	-	-	PIK3C2G	ENST00000535651,p.F109C|uc001rdt.3,p.F109C|NM_001288772,p.F109C|ENST00000266497,p.F109C|NM_004570,p.F109C|ENST00000546003,p.F109C|uc010sib.2,p.F109C|ENST00000538779,p.F109C|ENST00000433979,p.F109C	protein_coding, processed_transcript, nonsense_mediated_decay	uc010sib.2	nonsynonymous SNV	exon1	c.T326G	p.F109C	SWHQVSKAPAIGFSPSVLPKPQNTN	SWHQVSKAPAIGCSPSVLPKPQNTN	3.0	1.0	-	-	4278_12:18435341-18435341 T>G_SWHQVSKAPAIGCSPSVLPKPQNTN
12:21531287-21531287 G>A	0.0	4278	COLON	-	-	-	-	IAPP	NM_000415,p.G66E|ENST00000240652,p.G66E|ENST00000537593,p.G66E|uc001rev.3,p.G66E|ENST00000539393,p.G66E	protein_coding	uc001rev.3	nonsynonymous SNV	exon3	c.G197A	p.G66E	NNFGAILSSTNVGSNTYGKRNAVEV	NNFGAILSSTNVESNTYGKRNAVEV	1.0	6.0	-	-	4278_12:21531287-21531287 G>A_NNFGAILSSTNVESNTYGKRNAVEV
10:50315822-50315822 G>A	0.0	4278	COLON	-	-	-	-	VSTM4	NM_144984,p.R92C|ENST00000332853,p.R92C|uc001jhf.2,p.R92C|uc001jhh.2,p.R92C|NM_001031746,p.R92C|ENST00000298454,p.R92C	protein_coding, processed_transcript	uc001jhh.2	nonsynonymous SNV	exon2	c.C274T	p.R92C	KLRVVQYYGNFSRSAKRRRLRLLEE	KLRVVQYYGNFSCSAKRRRLRLLEE	4.0	7.0	-	-	4278_10:50315822-50315822 G>A_KLRVVQYYGNFSCSAKRRRLRLLEE
20:57415425-57415425 C>A	0.0	4278	COLON	-	-	-	1	GNAS	uc021wfl.1,p.H88Q|ENST00000313949,p.H88Q|ENST00000371098,p.H88Q|ENST00000371075,p.H88Q|uc021wfm.1,p.H88Q|NM_016592,p.H88Q	retained_intron, protein_coding, processed_transcript	uc021wfm.1	nonsynonymous SNV	exon1	c.C264A	p.H88Q	FPESPESESDHEHEEADLELSLPEC	FPESPESESDHEQEEADLELSLPEC	10.0	8.0	-	-	4278_20:57415425-57415425 C>A_FPESPESESDHEQEEADLELSLPEC
1:160811257-160811257 C>T	0.0	4278	COLON	-	-	-	-	CD244	uc001fxa.3,p.R133H|NM_016382,p.R133H|ENST00000368034,p.R133H|ENST00000368032,p.R133H|ENST00000492063,p.R133H	protein_coding, processed_transcript, nonsense_mediated_decay	uc001fxa.3	nonsynonymous SNV	exon3	c.G398A	p.R133H	FQVFVFDKVEKPRLQGQGKILDRGR	FQVFVFDKVEKPHLQGQGKILDRGR	5.0	9.0	-	-	4278_1:160811257-160811257 C>T_FQVFVFDKVEKPHLQGQGKILDRGR
1:115828972-115828972 C>T	0.0	4278	COLON	-	-	ID=COSM1497670;OCCURENCE=1(lung)	-	NGF	ENST00000369512,p.A149T|NM_002506,p.A149T|uc021osd.1,p.A149T|uc001efu.1,p.A149T	protein_coding	uc021osd.1	nonsynonymous SNV	exon1	c.G445A	p.A149T	DSVSVWVGDKTTATDIKGKEVMVLG	DSVSVWVGDKTTTTDIKGKEVMVLG	4.0	9.0	-	-	4278_1:115828972-115828972 C>T_DSVSVWVGDKTTTTDIKGKEVMVLG
2:179517625-179517625 T>G	0.0	4278	COLON	-	-	-	-	TTN	NM_001267550,p.K12970T|ENST00000589042,p.K12970T|uc031rqc.1,p.K12970T	retained_intron, protein_coding	uc031rqc.1	nonsynonymous SNV	exon200	c.A38909C	p.K12970T	KVPEAPIEVVPEKKMPLAPPKKPEV	KVPEAPIEVVPETKMPLAPPKKPEV	5.0	1.0	unscreened	-	4278_2:179517625-179517625 T>G_KVPEAPIEVVPETKMPLAPPKKPEV
X:54225062-54225062 T>G	0.0	4278	COLON	-	-	-	-	WNK3	uc004dtd.2,p.T1643P|uc004dtc.2,p.T1700P|NM_001002838,p.T1643P|ENST00000375159,p.T1700P|NM_020922,p.T1700P|ENST00000375169,p.T1643P|ENST00000354646,p.T1700P	protein_coding	uc004dtd.2	nonsynonymous SNV	exon23	c.A4927C	p.T1643P	KVSENTPSTMGYTSTWISSLSQIRG	KVSENTPSTMGYPSTWISSLSQIRG	4.0	6.0	unscreened	-	4278_X:54225062-54225062 T>G_KVSENTPSTMGYPSTWISSLSQIRG
10:13152466-13152466 G>A	1.0	4278	COLON	-	-	-	-	OPTN	uc001ilx.1,p.R120K|ENST00000430081,p.R63K|ENST00000378747,p.R120K|uc001ilw.1,p.R120K|NM_001008212,p.R120K|ENST00000263036,p.R120K|ENST00000378764,p.R120K|ENST00000378748,p.R120K|uc001ilu.1,p.R120K|NM_021980,p.R120K|uc001ily.1,p.R120K|uc001ilv.1,p.R120K|uc010qbr.1,p.R63K|NM_001008213,p.R120K|NM_001008211,p.R120K|ENST00000378752,p.R120K|ENST00000378757,p.R120K	protein_coding, processed_transcript	uc010qbr.1	nonsynonymous SNV	exon3	c.G188A	p.R63K	KEELGKLKGKSERSSEDPTDDSRLP	KEELGKLKGKSEKSSEDPTDDSRLP	10.0	1.0	-	-	4278_10:13152466-13152466 G>A_KEELGKLKGKSEKSSEDPTDDSRLP
9:125152621-125152621 G>A	0.0	4278	COLON	0.01	-	-	-	PTGS1	NM_001271165,p.V372I|uc004bmh.2,p.V372I|NM_001271368,p.V419I|NM_001271367,p.V335I|ENST00000373698,p.V372I|NM_001271166,p.V335I|NM_001271164,p.V433I|uc031tey.1,p.V433I|uc004bmg.2,p.V481I|ENST00000362012,p.V481I|uc011lys.2,p.V419I|uc010mwb.2,p.V335I|NM_080591,p.V444I|ENST00000540753,p.V419I|NM_000962,p.V481I|ENST00000223423,p.V444I|uc004bmf.2,p.V444I|uc031tez.1,p.V335I|uc011lyt.2,p.V372I	protein_coding	uc031tez.1	nonsynonymous SNV	exon10	c.G1003A	p.V335I	FGMKPYTSFQELVGEKEMAAELEEL	FGMKPYTSFQELIGEKEMAAELEEL	7.0	2.0	-	-	4278_9:125152621-125152621 G>A_FGMKPYTSFQELIGEKEMAAELEEL
3:195508057-195508057 G>T	0.0	4278	COLON	-	-	-	2	MUC4	ENST00000480843,p.A3465E|ENST00000463781,p.A3465E|ENST00000475231,p.A3465E|NM_018406,p.A3465E|ENST00000478156,p.A3465E|ENST00000477086,p.A3465E|ENST00000470451,p.A3465E|ENST00000479406,p.A3465E|ENST00000462323,p.A3465E|ENST00000477756,p.A3465E|uc021xjp.1,p.A3465E|ENST00000466475,p.A3465E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C10394A	p.A3465E	HTTPLPVTDTSSASTGDTTPLPVTS	HTTPLPVTDTSSESTGDTTPLPVTS	6.0	1.0	unscreened	-	4278_3:195508057-195508057 G>T_HTTPLPVTDTSSESTGDTTPLPVTS
9:104432734-104432734 C>A	0.0	4278	COLON	-	-	ID=COSM1553817;OCCURENCE=1(lung)	-	GRIN3A	ENST00000361820,p.G654C|uc004bbp.2,p.G654C|uc004bbq.1,p.G654C|NM_133445,p.G654C	protein_coding, processed_transcript	uc004bbq.1	nonsynonymous SNV	exon3	c.G1960T	p.G654C	IDFTSPFFSTSLGILVRTRDTAAPI	IDFTSPFFSTSLCILVRTRDTAAPI	2.0	8.0	-	-	4278_9:104432734-104432734 C>A_IDFTSPFFSTSLCILVRTRDTAAPI
5:112179551-112179551 A>C	0.0	4278	COLON	-	-	-	1	APC	uc003kpy.4,p.S2754R|uc010jca.3,p.S2054R|uc010jbz.3,p.S2471R|NM_001127510,p.S2754R|ENST00000508376,p.S2754R|ENST00000257430,p.S2754R|ENST00000457016,p.S2754R|NM_000038,p.S2754R|uc003kpz.4,p.S2754R|NM_001127511,p.S2736R|uc011cvt.2,p.S2736R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cvt.2	nonsynonymous SNV	exon14	c.A8206C	p.S2736R	QNNPVPVSETNESSIVERTPFSSSS	QNNPVPVSETNERSIVERTPFSSSS	8.0	4.0	unscreened	-	4278_5:112179551-112179551 A>C_QNNPVPVSETNERSIVERTPFSSSS
4:166915679-166915679 T>G	0.0	4278	COLON	-	-	ID=COSM1428406;OCCURENCE=1(large_intestine)	-	TLL1	uc011cjn.2,p.F170V|ENST00000513213,p.F170V|NM_001204760,p.F170V|uc003irh.2,p.F170V|ENST00000061240,p.F170V|ENST00000507499,p.F170V|uc021xud.1,p.F170V|NM_012464,p.F170V|ENST00000506144,p.F70V	protein_coding, nonsense_mediated_decay	uc021xud.1	nonsynonymous SNV	exon4	c.T508G	p.F170V	PGGVIPYVIGGNFTGSQRAMFKQAM	PGGVIPYVIGGNVTGSQRAMFKQAM	6.0	6.0	-	-	4278_4:166915679-166915679 T>G_PGGVIPYVIGGNVTGSQRAMFKQAM
8:10465108-10465108 T>G	0.0	4278	COLON	-	-	-	-	RP1L1	ENST00000382483,p.Q2167P|uc003wtc.3,p.Q2167P|NM_178857,p.Q2167P	protein_coding, processed_transcript	uc003wtc.3	nonsynonymous SNV	exon4	c.A6500C	p.Q2167P	GEAQPESEGIEAQEAEEEAQPELEG	GEAQPESEGIEAPEAEEEAQPELEG	7.0	2.0	unscreened	-	4278_8:10465108-10465108 T>G_GEAQPESEGIEAPEAEEEAQPELEG
6:163235236-163235236 T>G	0.0	4278	COLON	-	-	-	-	PACRG	NM_152410,p.F72V|uc003qub.3,p.F72V|uc003qua.3,p.F72V|ENST00000366889,p.F72V|ENST00000337019,p.F72V|uc003quc.3,p.F72V|ENST00000366888,p.F72V|NM_001080379,p.F72V|NM_001080378,p.F72V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003quc.3	nonsynonymous SNV	exon2	c.T214G	p.F72V	GAFKERPTKPTAFRKFYERGDFPIA	GAFKERPTKPTAVRKFYERGDFPIA	4.0	2.0	-	-	4278_6:163235236-163235236 T>G_GAFKERPTKPTAVRKFYERGDFPIA
9:124979533-124979533 G>C	0.0	4278	COLON	-	-	-	-	LHX6	ENST00000340587,p.Q166E|ENST00000394319,p.Q166E|NM_014368,p.Q166E|NM_199160,p.Q166E|ENST00000373755,p.Q137E|uc004blx.4,p.Q166E|uc004bly.4,p.Q166E|uc022bmx.1,p.Q155E|NM_001242333,p.Q155E|ENST00000541397,p.Q155E|NM_001242334,p.Q137E|uc010mvw.3,p.Q137E|ENST00000373754,p.Q137E	protein_coding, processed_transcript	uc022bmx.1	nonsynonymous SNV	exon5	c.C463G	p.Q155E	SRFGTKCARCGRQIYASDWVRRARG	SRFGTKCARCGREIYASDWVRRARG	5.0	9.0	-	-	4278_9:124979533-124979533 G>C_SRFGTKCARCGREIYASDWVRRARG
1:160811257-160811257 C>T	0.0	4278	COLON	-	-	-	-	CD244	uc009wtq.3,p.R138H|NM_001166663,p.R138H|ENST00000368033,p.R138H	protein_coding, processed_transcript, nonsense_mediated_decay	uc009wtq.3	nonsynonymous SNV	exon3	c.G413A	p.R138H	FESLLPDKVEKPRLQGQGKILDRGR	FESLLPDKVEKPHLQGQGKILDRGR	5.0	9.0	-	-	4278_1:160811257-160811257 C>T_FESLLPDKVEKPHLQGQGKILDRGR
17:45363729-45363729 C>T	0.0	4278	COLON	-	-	-	-	ITGB3	ENST00000559488,p.R240W|uc002ilj.3,p.R240W|NM_000212,p.R240W|uc002ili.1,p.R240W|ENST00000435993,p.R193W|ENST00000571680,p.R240W	protein_coding, nonsense_mediated_decay	uc002ilj.3	nonsynonymous SNV	exon5	c.C718T	p.R240W	RFNEEVKKQSVSRNRDAPEGGFDAI	RFNEEVKKQSVSWNRDAPEGGFDAI	7.0	9.0	-	-	4278_17:45363729-45363729 C>T_RFNEEVKKQSVSWNRDAPEGGFDAI
1:248637544-248637544 G>A	0.0	4278	COLON	-	-	-	-	OR2T3	ENST00000359594,p.R298H|uc001iel.1,p.R298H|NM_001005495,p.R298H	protein_coding	uc001iel.1	nonsynonymous SNV	exon1	c.G893A	p.R298H	FTPVLNPLIYSLRNKDVTRALRSMM	FTPVLNPLIYSLHNKDVTRALRSMM	4.0	2.0	unscreened	-	4278_1:248637544-248637544 G>A_FTPVLNPLIYSLHNKDVTRALRSMM
12:133430083-133430083 C>T	0.0	4278	COLON	-	-	-	-	CHFR	ENST00000443047,p.E356K|uc010tbs.1,p.E448K|NM_001161346,p.E436K|uc001ulf.2,p.E448K|NM_018223,p.E407K|NM_001161347,p.E356K|NM_001161344,p.E448K|ENST00000432561,p.E448K|uc001ule.2,p.E436K|NM_001161345,p.E448K|ENST00000266880,p.E448K|ENST00000315585,p.E407K|ENST00000450056,p.E436K|uc010tbt.1,p.E356K|ENST00000537522,p.E70K|uc001uld.2,p.E407K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tbt.1	nonsynonymous SNV	exon9	c.G1066A	p.E356K	RQAAQPPHCPAPEGEPGAPQALGDA	RQAAQPPHCPAPKGEPGAPQALGDA	7.0	9.0	-	-	4278_12:133430083-133430083 C>T_RQAAQPPHCPAPKGEPGAPQALGDA
11:123676798-123676798 T>C	0.0	4278	COLON	-	-	-	-	OR6M1	ENST00000309154,p.E87G|NM_001005325,p.E87G|uc010rzz.2,p.E87G	protein_coding	uc010rzz.2	nonsynonymous SNV	exon1	c.A260G	p.E87G	ITPKLLACLLGEEKTISFAGCMIQT	ITPKLLACLLGEGKTISFAGCMIQT	5.0	5.0	-	-	4278_11:123676798-123676798 T>C_ITPKLLACLLGEGKTISFAGCMIQT
8:2910030-2910030 T>G	0.0	4278	COLON	-	-	-	-	CSMD1	ENST00000520002,p.Q2539H|uc022aqr.1,p.Q2538H|ENST00000602557,p.Q2539H|NM_033225,p.Q2538H|ENST00000400186,p.Q2539H|uc011kwj.2,p.Q1868H|ENST00000542608,p.Q2538H|ENST00000602723,p.Q2539H|ENST00000537824,p.Q2538H|uc010lrg.3,p.Q607H	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon50	c.A7614C	p.Q2538H	KLESSQQATAVCQEDGLWSNKGKPP	KLESSQQATAVCHEDGLWSNKGKPP	7.0	7.0	-	-	4278_8:2910030-2910030 T>G_KLESSQQATAVCHEDGLWSNKGKPP
9:98209671-98209671 G>C	0.0	4278	COLON	-	-	-	1	PTCH1	NM_000264,p.D1289E|uc010mrq.3,p.D1138E|uc004avl.4,p.D1138E|ENST00000430669,p.D1223E|NM_001083604,p.D1138E|ENST00000437951,p.D1223E|ENST00000375274,p.D1288E|NM_001083602,p.D1223E|uc010mrn.3,p.D81E|ENST00000421141,p.D1138E|uc004avm.4,p.D1288E|NM_001083603,p.D1288E|NM_001083605,p.D1138E|uc010mrp.3,p.D1138E|NM_001083607,p.D1138E|ENST00000418258,p.D1138E|uc010mro.3,p.D1138E|ENST00000429896,p.D1138E|uc010mrr.3,p.D1223E|NM_001083606,p.D1138E|uc004avk.4,p.D1289E|ENST00000331920,p.D1289E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010mrr.3	nonsynonymous SNV	exon23	c.C3669G	p.D1223E	HPPSNPRQQPHLDSGSLPPGRQGQQ	HPPSNPRQQPHLESGSLPPGRQGQQ	9.0	5.0	-	-	4278_9:98209671-98209671 G>C_HPPSNPRQQPHLESGSLPPGRQGQQ
19:17488064-17488064 C>T	0.0	4278	COLON	0.0005	-	-	-	PLVAP	uc002ngk.1,p.A12T|NM_031310,p.A12T|ENST00000599426,p.A12T|ENST00000252590,p.A12T	protein_coding	uc002ngk.1	nonsynonymous SNV	exon1	c.G34A	p.A12T	MGLAMEHGGSYARAGGSSRGCWYY	MGLAMEHGGSYTRAGGSSRGCWYY	8.0	6.0	-	-	4278_19:17488064-17488064 C>T_MGLAMEHGGSYTRAGGSSRGCWYY
22:19363239-19363239 C>A	0.0	4278	COLON	-	-	-	-	HIRA	ENST00000340170,p.A564S|uc002zpf.1,p.A564S|ENST00000263208,p.A564S|uc011agx.1,p.A430S|NM_003325,p.A564S|uc010grn.1,p.A564S|ENST00000546308,p.A520S|uc010gro.2,p.A520S|ENST00000541063,p.A520S	protein_coding, processed_transcript, nonsense_mediated_decay	uc011agx.1	nonsynonymous SNV	exon17	c.G1288T	p.A430S	VLTTPSKIEPMKAFDSRFTERSKAT	VLTTPSKIEPMKSFDSRFTERSKAT	8.0	4.0	-	-	4278_22:19363239-19363239 C>A_VLTTPSKIEPMKSFDSRFTERSKAT
4:679643-679643 C>T	0.0	4278	COLON	-	-	-	-	MFSD7	uc003gax.3,p.G189D|NM_032219,p.G189D|uc003gay.3,p.G189D|ENST00000404286,p.G189D|NM_001294341,p.G189D|ENST00000507165,p.G125D|ENST00000322224,p.G189D|ENST00000503156,p.G125D	retained_intron, protein_coding, processed_transcript	uc003gay.3	nonsynonymous SNV	exon4	c.G566A	p.G189D	VANVLSPVLVKKGEDIPLMLGVYTI	VANVLSPVLVKKDEDIPLMLGVYTI	5.0	6.0	-	-	4278_4:679643-679643 C>T_VANVLSPVLVKKDEDIPLMLGVYTI
8:72754928-72754928 C>T	1.0	4278	COLON	-	-	-	-	MSC	NM_005098,p.A197T|ENST00000325509,p.A197T|uc003xyx.1,p.A197T	protein_coding, processed_transcript	uc003xyx.1	nonsynonymous SNV	exon2	c.G589A	p.A197T	SGRPDSDTKEVSAANRLCGTTA	SGRPDSDTKEVSTANRLCGTTA	4.0	2.0	-	-	4278_8:72754928-72754928 C>T_SGRPDSDTKEVSTANRLCGTTA
X:76937542-76937542 C>T	0.0	4278	COLON	-	-	-	1	ATRX	uc004ecp.4,p.G1069E|uc004ecr.2,p.G1001E|uc010nly.1,p.G1014E|uc010nlx.1,p.G1040E|uc004ecq.4,p.G1031E|NM_138270,p.G1031E|uc004eco.4,p.G854E|ENST00000395603,p.G1031E|ENST00000373344,p.G1069E|NM_000489,p.G1069E	protein_coding, processed_transcript	uc010nly.1	nonsynonymous SNV	exon8	c.G3041A	p.G1014E	KDELSDYAEKSTGKGDSCDSSEDKK	KDELSDYAEKSTEKGDSCDSSEDKK	9.0	8.0	-	-	4278_X:76937542-76937542 C>T_KDELSDYAEKSTEKGDSCDSSEDKK
13:103390563-103390563 T>C	0.0	4278	COLON	-	-	-	-	CCDC168	NM_001146197,p.I4162V|uc001vpm.3,p.I4162V	protein_coding	uc001vpm.3	nonsynonymous SNV	exon4	c.A12484G	p.I4162V	DYMQQKEDDEVKISAKKDIMHPEDK	DYMQQKEDDEVKVSAKKDIMHPEDK	5.0	8.0	-	-	4278_13:103390563-103390563 T>C_DYMQQKEDDEVKVSAKKDIMHPEDK
11:105789493-105789493 A>C	0.0	4278	COLON	-	-	-	-	GRIA4	ENST00000530497,p.K442T|NM_001077243,p.K442T|uc001pix.2,p.K442T|ENST00000525187,p.K442T|ENST00000282499,p.K442T|ENST00000393127,p.K442T|NM_000829,p.K442T|uc001piw.2,p.K442T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001pix.2	nonsynonymous SNV	exon11	c.A1325C	p.K442T	YKKNHEMFEGNDKYEGYCVDLASEI	YKKNHEMFEGNDTYEGYCVDLASEI	1.0	9.0	-	-	4278_11:105789493-105789493 A>C_YKKNHEMFEGNDTYEGYCVDLASEI
17:70120093-70120093 ->CC	1.0	4278	COLON	-	-	-	-	SOX9	ENST00000245479,p.A365fs|NM_000346,p.A365fs|uc002jiw.3,p.A365fs	protein_coding	uc002jiw.3	frameshift insertion	exon3	c.1095_1096insCC	p.A365fs	PPAPQAPPQPQAAPPQQPAAPPQQP	PPAPQAPPQPQAAPPHSSRRHPRSSHRRTR	10.0	4.0	-	-	4278_17:70120093-70120093 ->CC_PPAPQAPPQPQAAPPHSSRRHPRSSHRRTR
11:133778972-133778972 A>C	0.0	4278	COLON	-	-	-	-	IGSF9B	ENST00000533871,p.L1436V|uc031qfh.1,p.L1436V|NM_001277285,p.L1436V	protein_coding	uc031qfh.1	nonsynonymous SNV	exon20	c.T4306G	p.L1436V	NSVDHDDPGHATLL	NSVDHDDPGHATVL	4.0	8.0	-	-	4278_11:133778972-133778972 A>C_NSVDHDDPGHATVL
7:1733005-1733005 C>A	0.0	4278	COLON	-	-	-	-	TFAMP1,ELFN1	uc003slc.1,p.G176V|ENST00000382528,p.G176V	protein_coding	uc003slc.1	nonsynonymous SNV	exon2	c.G527T	p.G176V	YSGTPVCVHGCPGTLGSPSPRLPRL	YSGTPVCVHGCPVTLGSPSPRLPRL	4.0	8.0	unscreened	-	4278_7:1733005-1733005 C>A_YSGTPVCVHGCPVTLGSPSPRLPRL
20:43837052-43837052 C>A	0.0	4278	COLON	-	-	ID=COSM400596;OCCURENCE=1(kidney),1(urinary_tract),1(lung)	-	SEMG1	uc002xni.2,p.R372S|uc002xnj.2,p.R312S|NM_003007,p.R372S|ENST00000372781,p.R372S|ENST00000244069,p.R312S	protein_coding	uc002xnj.2	nonsynonymous SNV	exon3	c.C934A	p.R312S	YGENGVQKDVSQRSIYSQTEKLVAG	YGENGVQKDVSQSSIYSQTEKLVAG	4.0	2.0	unscreened	-	4278_20:43837052-43837052 C>A_YGENGVQKDVSQSSIYSQTEKLVAG
1:152883463-152883463 T>A	0.0	4278	COLON	-	-	-	-	IVL	ENST00000392667,p.V251E|uc021ozl.1,p.V397E|NM_005547,p.V397E|uc001fau.3,p.V397E|ENST00000368764,p.V397E	protein_coding	uc021ozl.1	nonsynonymous SNV	exon1	c.T1190A	p.V397E	HLEEEEGQLKHLVQQEGQLKHLVQQ	HLEEEEGQLKHLEQQEGQLKHLVQQ	5.0	3.0	unscreened	-	4278_1:152883463-152883463 T>A_HLEEEEGQLKHLEQQEGQLKHLVQQ
1:145361463-145361463 C>A	1.0	4278	COLON	-	rs77064224	-	-	NBPF25P	ENST00000342960,p.Q3123K|uc021oul.2,p.Q3123K	protein_coding, processed_transcript	uc021oul.2	nonsynonymous SNV	exon75	c.C9367A	p.Q3123K	GLAVDMDEIEKYQEVEEDQDPSCPR	GLAVDMDEIEKYKEVEEDQDPSCPR	10.0	7.0	unscreened	-	4278_1:145361463-145361463 C>A_GLAVDMDEIEKYKEVEEDQDPSCPR
22:35463171-35463171 T>A	0.0	4278	COLON	-	-	-	2	ISX	ENST00000308700,p.F31I|NM_001008494,p.F31I|uc003anj.3,p.F31I|ENST00000404699,p.F31I	protein_coding	uc003anj.3	nonsynonymous SNV	exon1	c.T91A	p.F31I	GCCEAPKKLSLSFSIEAILKRPARR	GCCEAPKKLSLSISIEAILKRPARR	4.0	5.0	unscreened	-	4278_22:35463171-35463171 T>A_GCCEAPKKLSLSISIEAILKRPARR
6:17551788-17551788 G>A	0.0	4278	COLON	-	-	-	-	CAP2	ENST00000378990,p.A409T|uc003ncb.3,p.A435T|uc011djd.2,p.A175T|uc011djc.2,p.A323T|ENST00000465994,p.A371T|uc011dja.2,p.A409T|ENST00000493172,p.A175T|ENST00000229922,p.A435T|uc011djb.2,p.A371T|ENST00000489374,p.A323T|NM_006366,p.A435T	protein_coding, nonsense_mediated_decay	uc011djd.2	nonsynonymous SNV	exon6	c.G523A	p.A175T	LSEDALDCEIVSAKSSEMNILIPQD	LSEDALDCEIVSTKSSEMNILIPQD	6.0	7.0	-	-	4278_6:17551788-17551788 G>A_LSEDALDCEIVSTKSSEMNILIPQD
9:34724183-34724183 T>G	0.0	4278	COLON	-	rs572654	-	-	FAM205A	ENST00000378788,p.K1018N|NM_001141917,p.K1018N|uc011lor.2,p.K1018N	protein_coding	uc011lor.2	nonsynonymous SNV	exon4	c.A3054C	p.K1018N	HMPCVQVEANVNKPSLEEPCGPEPQ	HMPCVQVEANVNNPSLEEPCGPEPQ	1.0	3.0	-	-	4278_9:34724183-34724183 T>G_HMPCVQVEANVNNPSLEEPCGPEPQ
1:6653607-6653607 G>A	0.0	4278	COLON	-	-	-	-	KLHL21	uc001aoa.3,p.R538C|NM_014851,p.R538C|ENST00000467612,p.R171C|ENST00000377658,p.R538C|ENST00000496707,p.R171C|uc009vme.3,p.R171C	protein_coding	uc009vme.3	nonsynonymous SNV	exon4	c.C511T	p.R171C	LSDVVEAYDPETRAWSVVGRLPEPT	LSDVVEAYDPETCAWSVVGRLPEPT	5.0	6.0	-	-	4278_1:6653607-6653607 G>A_LSDVVEAYDPETCAWSVVGRLPEPT
11:33565534-33565534 C>A	0.0	4278	COLON	-	-	-	-	KIAA1549L	uc021qfs.1,p.H512N|uc001mun.1,p.H512N|ENST00000265654,p.H512N|ENST00000321505,p.H512N|NM_012194,p.H512N|ENST00000389726,p.H512N	protein_coding	uc021qfs.1	nonsynonymous SNV	exon1	c.C1534A	p.H512N	SHIDLWPTSNNNHSRDFQTAEVAYY	SHIDLWPTSNNNNSRDFQTAEVAYY	5.0	5.0	-	-	4278_11:33565534-33565534 C>A_SHIDLWPTSNNNNSRDFQTAEVAYY
X:70823768-70823768 T>A	0.0	4278	COLON	-	-	-	-	ACRC	uc004eae.2,p.V214D|ENST00000373696,p.V214D|NM_052957,p.V214D|ENST00000373695,p.V214D	protein_coding, processed_transcript	uc004eae.2	nonsynonymous SNV	exon8	c.T641A	p.V214D	DDSSDDNSDDSDVPDDKSDDSDVPD	DDSSDDNSDDSDDPDDKSDDSDVPD	6.0	7.0	unscreened	-	4278_X:70823768-70823768 T>A_DDSSDDNSDDSDDPDDKSDDSDVPD
16:11260322-11260322 A>G	0.0	4278	COLON	-	-	-	-	CLEC16A	NM_015226,p.S907G|uc021tcy.1,p.S907G|ENST00000409790,p.S907G	retained_intron, protein_coding, processed_transcript	uc021tcy.1	nonsynonymous SNV	exon23	c.A2719G	p.S907G	SLSSQSPPSASGSPSGSGSTSHCDS	SLSSQSPPSASGGPSGSGSTSHCDS	7.0	8.0	-	-	4278_16:11260322-11260322 A>G_SLSSQSPPSASGGPSGSGSTSHCDS
19:51955830-51955830 C>G	0.0	4278	COLON	-	-	-	-	SIGLEC8	ENST00000340550,p.V342L|uc002pwt.3,p.V435L|ENST00000321424,p.V435L|ENST00000430817,p.V326L|NM_014442,p.V435L|uc010eox.2,p.V342L|uc010yda.2,p.V326L	retained_intron, protein_coding	uc010yda.2	nonsynonymous SNV	exon5	c.G976C	p.V326L	KDGNPLKKPPPAVAPSSGEEGELHY	KDGNPLKKPPPALAPSSGEEGELHY	6.0	8.0	-	-	4278_19:51955830-51955830 C>G_KDGNPLKKPPPALAPSSGEEGELHY
14:35554813-35554813 C>T	1.0	4278	COLON	-	-	-	-	PPP2R3C	NM_017917,p.D449N|ENST00000555219,p.D124N|uc010tpr.2,p.D333N|uc001wst.3,p.D333N|ENST00000261475,p.D449N|uc001wss.3,p.D449N	retained_intron, protein_coding, nonsense_mediated_decay	uc010tpr.2	nonsynonymous SNV	exon13	c.G997A	p.D333N	EALVANDSENSADLDDT	EALVANDSENSANLDDT	9.0	7.0	-	-	4278_14:35554813-35554813 C>T_EALVANDSENSANLDDT
16:11260322-11260322 A>G	0.0	4278	COLON	-	-	-	-	CLEC16A	uc002dao.3,p.S905G	retained_intron, protein_coding, processed_transcript	uc002dao.3	nonsynonymous SNV	exon22	c.A2713G	p.S905G	SPSLSSQSPPSASGSPSGSGSTSHC	SPSLSSQSPPSAGGSPSGSGSTSHC	7.0	8.0	-	-	4278_16:11260322-11260322 A>G_SPSLSSQSPPSAGGSPSGSGSTSHC
4:15444302-15444302 T>G	0.0	4278	COLON	-	-	-	-	C1QTNF7	ENST00000429690,p.F250C|uc003gnp.3,p.F250C|ENST00000444304,p.F250C|ENST00000295297,p.F257C|uc011bxb.2,p.F250C|uc003gno.3,p.F257C|NM_001135171,p.F250C|NM_001135170,p.F257C|NM_031911,p.F250C	protein_coding, processed_transcript	uc011bxb.2	nonsynonymous SNV	exon3	c.T749G	p.F250C	YLQPEDEVWLEIFFTDQNGLFSDPG	YLQPEDEVWLEICFTDQNGLFSDPG	4.0	6.0	-	-	4278_4:15444302-15444302 T>G_YLQPEDEVWLEICFTDQNGLFSDPG
X:89177518-89177518 A>C	0.0	4278	COLON	-	-	-	-	TGIF2LX	uc022bzr.1,p.K145T|uc004efe.3,p.K145T|NM_138960,p.K145T|ENST00000283891,p.K145T|ENST00000561129,p.K145T	protein_coding	uc022bzr.1	nonsynonymous SNV	exon1	c.A434C	p.K145T	THLQSTEASVPAKSGPSGPDNVQSL	THLQSTEASVPATSGPSGPDNVQSL	1.0	7.0	-	-	4278_X:89177518-89177518 A>C_THLQSTEASVPATSGPSGPDNVQSL
5:41381956-41381956 T>A	0.0	4278	COLON	-	-	-	-	PLCXD3	ENST00000328457,p.S262C|NM_001005473,p.S262C|uc003jmm.1,p.S262C|ENST00000377801,p.S262C	protein_coding	uc003jmm.1	nonsynonymous SNV	exon2	c.A784T	p.S262C	TPKASTVVKGVASGLRETITERALP	TPKASTVVKGVACGLRETITERALP	3.0	5.0	-	-	4278_5:41381956-41381956 T>A_TPKASTVVKGVACGLRETITERALP
19:48609790-48609790 G>T	0.0	4278	COLON	-	-	-	-	PLA2G4C	NM_001159322,p.H20N|ENST00000599111,p.H20N|uc010xzd.2,p.H20N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xzd.2	nonsynonymous SNV	exon2	c.C58A	p.H20N	RLRRTENFLTAVHHGKKEEKAAVER	RLRRTENFLTAVNHGKKEEKAAVER	6.0	7.0	-	-	4278_19:48609790-48609790 G>T_RLRRTENFLTAVNHGKKEEKAAVER
12:6483615-6483615 T>A	1.0	4281	COLON	-	-	-	-	SCNN1A	NM_001159575,p.Y135F|uc001qnx.3,p.Y112F|ENST00000536788,p.Y133F|ENST00000228916,p.Y112F|ENST00000543768,p.Y135F|uc001qnw.3,p.Y171F|uc010sfb.2,p.Y135F|NM_001159576,p.Y171F|NM_001038,p.Y112F|ENST00000358945,p.Y112F|ENST00000338748,p.Y112F|ENST00000396966,p.Y112F|ENST00000360168,p.Y171F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010sfb.2	nonsynonymous SNV	exon2	c.A404T	p.Y135F	WQFGLLFGEYFSYPVSLNINLNSDK	WQFGLLFGEYFSFPVSLNINLNSDK	10.0	6.0	-	-	4281_12:6483615-6483615 T>A_WQFGLLFGEYFSFPVSLNINLNSDK
16:24818094-24818094 A>C	1.0	4281	COLON	-	-	-	-	TNRC6A	NM_014494,p.N1510T|uc002dmp.3,p.N111T|uc010bxs.3,p.N1257T|ENST00000315183,p.N1461T|uc002dmm.3,p.N1510T|uc002dmn.3,p.N1208T|uc002dmo.3,p.N1149T|ENST00000450465,p.N454T|ENST00000395799,p.N1510T|uc002dmq.3,p.N177T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bxs.3	nonsynonymous SNV	exon14	c.A3770C	p.N1257T	LQKGPSPINAFSNFPIGLNSNLNVN	LQKGPSPINAFSTFPIGLNSNLNVN	9.0	7.0	unscreened	-	4281_16:24818094-24818094 A>C_LQKGPSPINAFSTFPIGLNSNLNVN
5:71403458-71403458 G>C	1.0	4281	COLON	-	-	-	-	MAP1B	ENST00000296755,p.D34H|ENST00000513526,p.D34H|ENST00000511641,p.D34H|uc010iyw.1,p.D34H|uc003kbw.4,p.D34H|NM_005909,p.D34H|ENST00000512974,p.D34H	protein_coding, processed_transcript, nonsense_mediated_decay	uc010iyw.1	nonsynonymous SNV	exon1	c.G100C	p.D34H	ASTSPSLSHRFLDSKFYLLVVVGEI	ASTSPSLSHRFLHSKFYLLVVVGEI	9.0	4.0	-	-	4281_5:71403458-71403458 G>C_ASTSPSLSHRFLHSKFYLLVVVGEI
15:45003781-45003782 CT>-	1.0	4281	COLON	-	-	ID=COSM144579,COSM3686101;OCCURENCE=3(large_intestine),2(skin),1(haematopoietic_and_lymphoid_tissue)	1	B2M	ENST00000349264,p.L13fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	ENST00000349264	frameshift deletion	exon1	c.37_38del	p.L13fs	MSRSVALAVLALLSLSGLERELKKW	MSRSVALAVLALLSFWPGERIEKVEHSDLSFSKDWSFYLLYYTEFTPTEKDEYACRV	10.0	9.0	unscreened	-	4281_15:45003781-45003782 CT>-_MSRSVALAVLALLSFWPGERIEKVEHSDLSFSKDWSFYLLYYTEFTPTEKDEYACRV
19:58319611-58319611 C>T	1.0	4281	COLON	-	-	-	-	ZNF552	NM_024762,p.V341I|uc010yhg.2,p.V337I|ENST00000391701,p.V341I|uc002qqg.3,p.V341I	retained_intron, protein_coding, nonsense_mediated_decay	uc010yhg.2	nonsynonymous SNV	exon3	c.G1009A	p.V337I	CGKSFTHSSTFRVHKRVHTGQKPYE	CGKSFTHSSTFRIHKRVHTGQKPYE	7.0	5.0	-	-	4281_19:58319611-58319611 C>T_CGKSFTHSSTFRIHKRVHTGQKPYE
15:45003781-45003782 CT>-	1.0	4281	COLON	-	-	ID=COSM144579,COSM3686101;OCCURENCE=3(large_intestine),2(skin),1(haematopoietic_and_lymphoid_tissue)	1	B2M	ENST00000557901,p.L13fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	ENST00000557901	frameshift deletion	exon1	c.37_38del	p.L13fs	MSRSVALAVLALLSLSGLEAIQHSG	MSRSVALAVLALLSFWPGGYPAFRFTHVIQQRMESQIS	10.0	9.0	unscreened	-	4281_15:45003781-45003782 CT>-_MSRSVALAVLALLSFWPGGYPAFRFTHVIQQRMESQIS
5:133496716-133496716 G>T	1.0	4281	COLON	-	-	-	-	SKP1	ENST00000521216,p.L93M	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000521216	nonsynonymous SNV	exon4	c.C277A	p.L93M	RTDDIPVWDQEFLKYTLRKTTVSLQ	RTDDIPVWDQEFMKYTLRKTTVSLQ	10.0	6.0	unscreened	-	4281_5:133496716-133496716 G>T_RTDDIPVWDQEFMKYTLRKTTVSLQ
17:43531112-43531112 T>C	1.0	4281	COLON	-	-	-	-	PLEKHM1	uc002ijc.3,p.I156M|ENST00000421073,p.I613M|uc010wjm.2,p.I674M|NM_014798,p.I702M|uc002ija.3,p.I702M|ENST00000430334,p.I702M|uc010wjn.1,p.I651M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wjn.1	nonsynonymous SNV	exon6	c.A1953G	p.I651M	LYLYMDRTWMPYIFSLSLEALKCFR	LYLYMDRTWMPYMFSLSLEALKCFR	10.0	8.0	-	-	4281_17:43531112-43531112 T>C_LYLYMDRTWMPYMFSLSLEALKCFR
5:133496716-133496716 G>T	1.0	4281	COLON	-	-	-	-	SKP1	ENST00000519321,p.L93M|NM_170679,p.L93M|NM_006930,p.L93M|uc003kzc.4,p.L93M|ENST00000522552,p.L93M|ENST00000328392,p.L93M|ENST00000353411,p.L93M|ENST00000517625,p.L93M|uc003kzd.4,p.L93M|ENST00000522855,p.L93M	retained_intron, protein_coding, nonsense_mediated_decay	uc003kzd.4	nonsynonymous SNV	exon4	c.C277A	p.L93M	RTDDIPVWDQEFLKVDQGTLFELIL	RTDDIPVWDQEFMKVDQGTLFELIL	10.0	6.0	-	-	4281_5:133496716-133496716 G>T_RTDDIPVWDQEFMKVDQGTLFELIL
X:153580369-153580369 G>A	1.0	4281	COLON	-	-	-	2	FLNA	uc011mzn.1,p.R397W|ENST00000369850,p.R2264W|ENST00000344736,p.R2224W|ENST00000360319,p.R2256W|ENST00000444578,p.R204W|ENST00000369856,p.R397W|NM_001110556,p.R2264W|uc004fkk.2,p.R2264W|uc010nuu.1,p.R2256W|ENST00000422373,p.R2256W|NM_001456,p.R2256W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011mzn.1	nonsynonymous SNV	exon13	c.C1189T	p.R397W	EAGVPAEFSIWTREAGAGGLAIAVE	EAGVPAEFSIWTWEAGAGGLAIAVE	10.0	10.0	CD8	-	4281_X:153580369-153580369 G>A_EAGVPAEFSIWTWEAGAGGLAIAVE
3:179470104-179470104 T>A	1.0	4281	COLON	-	-	-	-	USP13	uc003fkh.3,p.L581M|NM_003940,p.L581M|ENST00000497155,p.L227M|ENST00000263966,p.L581M|ENST00000496897,p.L516M	protein_coding, processed_transcript, nonsense_mediated_decay	uc003fkh.3	nonsynonymous SNV	exon14	c.T1741A	p.L581M	VKTSRFASFPEYLVVQIKKFTFGLD	VKTSRFASFPEYMVVQIKKFTFGLD	7.0	1.0	-	-	4281_3:179470104-179470104 T>A_VKTSRFASFPEYMVVQIKKFTFGLD
11:119599204-119599204 C>G	1.0	4281	COLON	-	-	-	-	PVRL1	NM_203286,p.L20F|uc001pwv.3,p.L20F|NM_002855,p.L20F|ENST00000340882,p.L20F|ENST00000264025,p.L20F|uc001pwu.1,p.L20F|uc001pww.3,p.L20F|NM_203285,p.L20F|ENST00000341398,p.L20F	retained_intron, protein_coding, processed_transcript	uc001pww.3	nonsynonymous SNV	exon1	c.G60C	p.L20F	GAAGRWWGLALGLTAFFLPGVHSQV	GAAGRWWGLALGFTAFFLPGVHSQV	9.0	3.0	-	-	4281_11:119599204-119599204 C>G_GAAGRWWGLALGFTAFFLPGVHSQV
17:49054552-49054552 C>T	1.0	4281	COLON	-	-	-	-	SPAG9	ENST00000357122,p.R1133K|NM_001130527,p.R1137K|ENST00000262013,p.R1147K|uc002itd.3,p.R1137K|ENST00000505279,p.R1137K|uc002itc.3,p.R1147K|NM_001130528,p.R1147K|ENST00000510283,p.R990K|uc002itb.3,p.R1133K|uc002ita.3,p.R990K|NM_001251971,p.R990K|NM_003971,p.R1133K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002itd.3	nonsynonymous SNV	exon27	c.G3410A	p.R1137K	MLGTGKLGFSFVRITALMVSCNRLW	MLGTGKLGFSFVKITALMVSCNRLW	10.0	8.0	-	-	4281_17:49054552-49054552 C>T_MLGTGKLGFSFVKITALMVSCNRLW
11:70348346-70348346 C>T	1.0	4281	COLON	-	-	-	-	SHANK2	uc010rqn.2,p.R160H|NM_133266,p.R160H|ENST00000409161,p.R159H|ENST00000409530,p.R159H|uc001opz.3,p.R160H|ENST00000449833,p.R160H|ENST00000338508,p.R749H|ENST00000423696,p.R369H|ENST00000357171,p.R160H|ENST00000294018,p.R379H	protein_coding, processed_transcript	uc010rqn.2	nonsynonymous SNV	exon4	c.G479A	p.R160H	PPKRAPTTALTLRSKSMTSELEELV	PPKRAPTTALTLHSKSMTSELEELV	8.0	10.0	-	-	4281_11:70348346-70348346 C>T_PPKRAPTTALTLHSKSMTSELEELV
11:70348346-70348346 C>T	1.0	4281	COLON	-	-	-	-	SHANK2	ENST00000449116,p.R160H|ENST00000424924,p.R37H|uc010rqp.1,p.R160H	protein_coding, processed_transcript	uc010rqp.1	nonsynonymous SNV	exon4	c.G479A	p.R160H	PPKRAPTTALTLRSKSMTSELEELD	PPKRAPTTALTLHSKSMTSELEELD	8.0	10.0	-	-	4281_11:70348346-70348346 C>T_PPKRAPTTALTLHSKSMTSELEELD
15:45003781-45003782 CT>-	1.0	4281	COLON	-	-	ID=COSM144579,COSM3686101;OCCURENCE=3(large_intestine),2(skin),1(haematopoietic_and_lymphoid_tissue)	1	B2M	ENST00000544417,p.L13fs|ENST00000561424,p.L13fs|ENST00000559720,p.L13fs|NM_004048,p.L13fs|uc001zuc.3,p.L13fs|ENST00000558401,p.L13fs|uc010bdx.1,p.L13fs|uc010uek.1,p.L13fs|ENST00000559916,p.L13fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc010uek.1	frameshift deletion	exon1	c.37_38del	p.L13fs	MSRSVALAVLALLSLSGLEAIQRTP	MSRSVALAVLALLSFWPGGYPAYSKDSGLLTSSSREWKVKFPELLCVWVSSIRH	10.0	9.0	unscreened	-	4281_15:45003781-45003782 CT>-_MSRSVALAVLALLSFWPGGYPAYSKDSGLLTSSSREWKVKFPELLCVWVSSIRH
2:27604598-27604598 A>C	1.0	4281	COLON	-	-	-	-	PPM1G	uc002rkl.4,p.I503M|ENST00000344034,p.I503M|NM_177983,p.I503M|ENST00000350803,p.I503M	retained_intron, protein_coding	uc002rkl.4	nonsynonymous SNV	exon10	c.T1509G	p.I503M	DGTGCDNMTCIIICFKPRNTAELQP	DGTGCDNMTCIIMCFKPRNTAELQP	9.0	9.0	-	-	4281_2:27604598-27604598 A>C_DGTGCDNMTCIIMCFKPRNTAELQP
X:48896834-48896836 GAA>-	1.0	4281	COLON	-	-	-	1	TFE3	uc004dmb.3,p.110_111del|ENST00000315869,p.110_111del|NM_006521,p.110_111del	protein_coding, processed_transcript	uc004dmb.3	nonframeshift deletion	exon3	c.330_332del	p.110_111del	AGGSRTPAMSSSSSSRVLLRQQLMR	AGGSRTPAMSSSSSRVLLRQQLMRA	8.0	9.0	-	-	4281_X:48896834-48896836 GAA>-_AGGSRTPAMSSSSSRVLLRQQLMRA
18:19153729-19153729 T>C	1.0	4281	COLON	-	-	-	-	ESCO1	ENST00000269214,p.D359G|NM_052911,p.D359G|ENST00000383276,p.D359G|uc002kth.1,p.D359G	protein_coding, processed_transcript, nonsense_mediated_decay	uc002kth.1	nonsynonymous SNV	exon4	c.A1076G	p.D359G	ERQILHQKETNQDVQCNRFFPSRKT	ERQILHQKETNQGVQCNRFFPSRKT	6.0	4.0	-	-	4281_18:19153729-19153729 T>C_ERQILHQKETNQGVQCNRFFPSRKT
2:74902413-74902413 C>A	1.0	4281	COLON	-	-	-	-	SEMA4F	uc010ffq.2,p.P392H|uc002sna.2,p.P425H|uc010ffr.2,p.P37H|NM_001271662,p.P392H|NM_004263,p.P425H|NM_001271661,p.P270H|ENST00000357877,p.P425H|uc002snc.2,p.P270H|uc002snb.2,p.P37H|ENST00000339773,p.P270H	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ffr.2	nonsynonymous SNV	exon8	c.C110A	p.P37H	LMDRPVFPADGHPLLVTTDTAYLRV	LMDRPVFPADGHHLLVTTDTAYLRV	5.0	9.0	-	-	4281_2:74902413-74902413 C>A_LMDRPVFPADGHHLLVTTDTAYLRV
1:22214145-22214145 G>A	1.0	4281	COLON	-	-	-	-	HSPG2	uc009vqe.1,p.A141V|ENST00000412328,p.A165V	protein_coding, processed_transcript, nonsense_mediated_decay	uc009vqe.1	nonsynonymous SNV	exon5	c.C422T	p.A141V	MSSIVRSQSWVSAPHSLSLWRRHLY	MSSIVRSQSWVSVPHSLSLWRRHLY	9.0	10.0	-	-	4281_1:22214145-22214145 G>A_MSSIVRSQSWVSVPHSLSLWRRHLY
12:25398285-25398285 C>A	1.0	4281	COLON	-	-	ID=COSM1140136,COSM516;OCCURENCE=15(stomach),1(central_nervous_system),8(upper_aerodigestive_tract),2(oesophagus),3(peritoneum),1776(lung),18(thyroid),17(haematopoietic_and_lymphoid_tissue),2(testis),2(cervix),4(gastrointestinal_tract_(site_indeterminate)),13(soft_tissue),34(ovary),38(endometrium),5(skin),11(breast),8(small_intestine),1(kidney),130(pancreas),4(liver),15(urinary_tract),1(adrenal_gland),1476(large_intestine),51(biliary_tract),10(prostate)	1	KRAS	ENST00000556131,p.G12C|ENST00000557334,p.G12C|ENST00000256078,p.G12C|NM_033360,p.G12C|uc001rgp.1,p.G12C|ENST00000311936,p.G12C|NM_004985,p.G12C|uc001rgq.1,p.G12C	protein_coding	uc001rgq.1	nonsynonymous SNV	exon2	c.G34T	p.G12C	MTEYKLVVVGAGGVGKSALTIQLI	MTEYKLVVVGACGVGKSALTIQLI	8.0	8.0	-	-	4281_12:25398285-25398285 C>A_MTEYKLVVVGACGVGKSALTIQLI
7:101892296-101892296 ->A	1.0	4281	COLON	-	-	-	1	CUX1	ENST00000360264,p.E1509fs|ENST00000546411,p.E1396fs|ENST00000549414,p.E1476fs|uc003uyx.4,p.E1498fs|NM_181552,p.E1498fs|ENST00000550008,p.E1442fs|uc003uys.4,p.E1509fs|ENST00000292535,p.E1498fs|NM_001202543,p.E1509fs|ENST00000556210,p.E1340fs	retained_intron, protein_coding, processed_transcript	uc003uyx.4	frameshift insertion	exon24	c.4493dupA	p.E1498fs	SIIHRLEKAASREEPIEWEF	SIIHRLEKAASREGTYRMGVL	10.0	8.0	unscreened	-	4281_7:101892296-101892296 ->A_SIIHRLEKAASREGTYRMGVL
16:24818096-24818096 T>G	1.0	4281	COLON	-	-	-	-	TNRC6A	uc010bxs.3,p.F1258V|NM_014494,p.F1511V|ENST00000450465,p.F455V|uc002dmm.3,p.F1511V|uc002dmn.3,p.F1209V|uc002dmo.3,p.F1150V|ENST00000395799,p.F1511V|ENST00000315183,p.F1462V|uc002dmp.3,p.F112V|uc002dmq.3,p.F178V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bxs.3	nonsynonymous SNV	exon14	c.T3772G	p.F1258V	QKGPSPINAFSNFPIGLNSNLNVNM	QKGPSPINAFSNVPIGLNSNLNVNM	9.0	7.0	unscreened	-	4281_16:24818096-24818096 T>G_QKGPSPINAFSNVPIGLNSNLNVNM
2:131414737-131414737 A>G	0.0	4281	COLON	-	rs4531942	-	-	POTEJ	NM_001277083,p.M802V|ENST00000409602,p.M802V|uc021vor.2,p.M802V	protein_coding	uc021vor.2	nonsynonymous SNV	exon15	c.A2404G	p.M802V	FNTPAMYVAIQAMLSLYTSGRTTGI	FNTPAMYVAIQAVLSLYTSGRTTGI	9.0	1.0	unscreened	-	4281_2:131414737-131414737 A>G_FNTPAMYVAIQAVLSLYTSGRTTGI
22:21343966-21344002 GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA>-	0.0	4281	COLON	-	-	-	1	LZTR1	uc011ahy.2,p.197_198del|uc002ztn.3,p.175_176del|ENST00000389355,p.197_198del|uc002zto.3,p.216_217del|NM_006767,p.216_217del|ENST00000215739,p.216_217del|uc010gsr.1,p.87_88del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ahy.2	nonframeshift deletion	exon6	c.589_594del	p.197_198del	TIGLQDRELTCWEEVAQSGEIPPSC	TIGLQDRELTCWVAQSGEIPPSCCN	9.0	1.0	unscreened	-	4281_22:21343966-21344002 GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA>-_TIGLQDRELTCWVAQSGEIPPSCCN
1:65325883-65325883 G>C	1.0	4281	COLON	-	-	-	1	JAK1	NM_002227,p.F413L|uc009wam.1,p.F413L|ENST00000342505,p.F413L|uc001dbu.1,p.F413L	protein_coding, processed_transcript	uc009wam.1	nonsynonymous SNV	exon10	c.C1239G	p.F413L	EALSFVSLVDGYFRLTADAHHYLCT	EALSFVSLVDGYLRLTADAHHYLCT	9.0	1.0	-	-	4281_1:65325883-65325883 G>C_EALSFVSLVDGYLRLTADAHHYLCT
5:139908545-139908545 C>T	1.0	4281	COLON	-	-	-	-	ANKHD1,ANKHD1-EIF4EBP3	uc011czh.1,p.P744L|ENST00000544120,p.P388L|uc010jfl.3,p.P440L|ENST00000532219,p.P2005L|ENST00000437495,p.P16L|ENST00000431508,p.P661L|uc003lfx.1,p.P142L|uc003lfw.3,p.P643L|NM_020690,p.P2005L|uc003lfs.2,p.P2005L|ENST00000433049,p.P527L|NM_017747,p.P2005L|ENST00000297183,p.P2005L|uc003lfr.3,p.P2005L|ENST00000360839,p.P2005L	retained_intron, protein_coding, processed_transcript	uc011czh.1	nonsynonymous SNV	exon9	c.C2231T	p.P744L	PITSGQAPTTFLPASTSQAQLSSQK	PITSGQAPTTFLLASTSQAQLSSQK	9.0	7.0	-	-	4281_5:139908545-139908545 C>T_PITSGQAPTTFLLASTSQAQLSSQK
13:95726528-95726528 C>A	1.0	4281	COLON	-	-	-	-	ABCC4	ENST00000376887,p.D953Y|ENST00000412704,p.D906Y|NM_001301829,p.D906Y|uc010afk.3,p.D906Y|NM_005845,p.D953Y|uc001vmd.4,p.D953Y	protein_coding, processed_transcript	uc010afk.3	nonsynonymous SNV	exon22	c.G2716T	p.D906Y	FLTTSRWFAVRLDAICAMFVIIVAF	FLTTSRWFAVRLYAICAMFVIIVAF	7.0	6.0	-	-	4281_13:95726528-95726528 C>A_FLTTSRWFAVRLYAICAMFVIIVAF
4:128814500-128814501 AC>-	1.0	4281	COLON	-	-	-	-	PLK4	uc011cgt.2,p.Y709fs|ENST00000270861,p.Y750fs|uc011cgs.2,p.Y718fs|NM_001190799,p.Y718fs|ENST00000507249,p.Y689fs|NM_001190801,p.Y709fs|ENST00000514379,p.Y709fs|NM_014264,p.Y750fs|uc003ifo.3,p.Y750fs|ENST00000515069,p.Y672fs|ENST00000513090,p.Y718fs	retained_intron, protein_coding, processed_transcript	uc011cgt.2	frameshift deletion	exon11	c.2126_2127del	p.Y709fs	DFIQVIEKTGKSYTLKSESEVNSLK	DFIQVIEKTGKSYFKK	7.0	5.0	-	-	4281_4:128814500-128814501 AC>-_DFIQVIEKTGKSYFKK
19:13873436-13873436 G>A	1.0	4281	COLON	-	-	-	-	CCDC130	ENST00000586666,p.E200K|ENST00000586600,p.E249K|uc002mxc.1,p.E249K|ENST00000221554,p.E249K|NM_030818,p.E249K	retained_intron, protein_coding, processed_transcript	uc002mxc.1	nonsynonymous SNV	exon10	c.G745A	p.E249K	DSYEDKQKLKRTEIISRSWFPSAPG	DSYEDKQKLKRTKIISRSWFPSAPG	8.0	2.0	-	-	4281_19:13873436-13873436 G>A_DSYEDKQKLKRTKIISRSWFPSAPG
17:77076379-77076379 G>A	1.0	4281	COLON	-	-	-	-	ENGASE	uc010wtz.1,p.R33Q|uc002jwv.4,p.R219Q|ENST00000579016,p.R219Q|NM_001042573,p.R219Q|uc002jwu.1,p.R219Q|ENST00000539857,p.R33Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wtz.1	nonsynonymous SNV	exon4	c.G98A	p.R33Q	AGDERSYQAVADRLVQITQFFRFDG	AGDERSYQAVADQLVQITQFFRFDG	7.0	6.0	-	-	4281_17:77076379-77076379 G>A_AGDERSYQAVADQLVQITQFFRFDG
16:1392991-1392991 C>G	1.0	4281	COLON	-	-	-	-	BAIAP3	NM_001199099,p.N385K|ENST00000568887,p.N385K|uc002clk.2,p.N448K|ENST00000397489,p.N430K|NM_001199097,p.N413K|NM_003933,p.N448K|uc002clj.3,p.N430K|ENST00000562208,p.N390K|ENST00000421665,p.N377K|uc010uva.2,p.N385K|NM_001199098,p.N390K|uc021tag.1,p.N390K|ENST00000397488,p.N430K|NM_001199096,p.N377K|ENST00000324385,p.N448K|NM_001286464,p.N430K|uc010uvc.1,p.N377K|ENST00000426824,p.N413K|uc010uuz.2,p.N413K	retained_intron, protein_coding, processed_transcript	uc021tag.1	nonsynonymous SNV	exon14	c.C1170G	p.N390K	AATILCLHGAQSNLSPLQLAVLHWQ	AATILCLHGAQSKLSPLQLAVLHWQ	7.0	7.0	-	-	4281_16:1392991-1392991 C>G_AATILCLHGAQSKLSPLQLAVLHWQ
7:17915376-17915376 G>C	1.0	4281	COLON	-	-	-	-	SNX13	uc003stx.1,p.R80G|ENST00000409389,p.R160G|uc003stw.1,p.R160G|ENST00000428135,p.R160G|NM_015132,p.R160G|uc003stv.3,p.R160G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003stx.1	nonsynonymous SNV	exon7	c.C238G	p.R80G	SKEIDWQPYFTTRIVDDFGTHLRVF	SKEIDWQPYFTTGIVDDFGTHLRVF	8.0	5.0	-	-	4281_7:17915376-17915376 G>C_SKEIDWQPYFTTGIVDDFGTHLRVF
9:104309139-104309139 C>T	1.0	4281	COLON	-	-	-	-	RNF20	uc004bbn.3,p.S262L|ENST00000389120,p.S262L|NM_019592,p.S262L	retained_intron, protein_coding, processed_transcript	uc004bbn.3	nonsynonymous SNV	exon7	c.C785T	p.S262L	FSKLQSKVETAESRVSVLESMIDDL	FSKLQSKVETAELRVSVLESMIDDL	7.0	3.0	-	-	4281_9:104309139-104309139 C>T_FSKLQSKVETAELRVSVLESMIDDL
1:186304568-186304568 G>T	1.0	4281	COLON	-	-	-	1	TPR	ENST00000367478,p.Q1605K|uc001grv.3,p.Q1605K|NM_003292,p.Q1605K	retained_intron, protein_coding, processed_transcript	uc001grv.3	nonsynonymous SNV	exon34	c.C4813A	p.Q1605K	DELDVRITALKSQYEGRISRLEREL	DELDVRITALKSKYEGRISRLEREL	8.0	7.0	-	-	4281_1:186304568-186304568 G>T_DELDVRITALKSKYEGRISRLEREL
9:140437982-140437982 C>A	1.0	4281	COLON	-	-	-	-	PNPLA7	uc010ncj.1,p.K136N|ENST00000491019,p.K80N|ENST00000406427,p.K136N|uc004cnf.2,p.K111N|ENST00000277531,p.K111N|NM_152286,p.K111N|NM_001098537,p.K136N|ENST00000434090,p.K102N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ncj.1	nonsynonymous SNV	exon6	c.G408T	p.K136N	LRFKKEYPALQPKEPPPSLLEADLT	LRFKKEYPALQPNEPPPSLLEADLT	5.0	5.0	unscreened	-	4281_9:140437982-140437982 C>A_LRFKKEYPALQPNEPPPSLLEADLT
3:153870583-153870583 C>T	0.0	4281	COLON	-	-	-	-	ARHGEF26	uc021xgc.1,p.S450F|ENST00000465093,p.S450F|uc011bog.1,p.S450F|NM_001251963,p.S450F|ENST00000496710,p.S450F|NM_001251962,p.S450F|uc011boh.1,p.S450F|NM_015595,p.S450F|ENST00000356448,p.S450F	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xgc.1	nonsynonymous SNV	exon6	c.C1349T	p.S450F	RKRQEAIFEVISSEHSYLLSLEILI	RKRQEAIFEVISFEHSYLLSLEILI	5.0	2.0	unscreened	-	4281_3:153870583-153870583 C>T_RKRQEAIFEVISFEHSYLLSLEILI
19:58879856-58879856 G>A	1.0	4281	COLON	-	-	-	-	ZNF837	ENST00000597582,p.R282C|NM_138466,p.R282C|ENST00000427624,p.R282C|uc002qsl.4,p.R282C|uc021vcx.1,p.R282C|uc002qsm.3,p.R282C	protein_coding	uc021vcx.1	nonsynonymous SNV	exon1	c.C844T	p.R282C	LYACDECGKAFTRTSSLLQHQRIHT	LYACDECGKAFTCTSSLLQHQRIHT	5.0	5.0	-	-	4281_19:58879856-58879856 G>A_LYACDECGKAFTCTSSLLQHQRIHT
3:195507097-195507097 G>A	1.0	4281	COLON	-	-	-	2	MUC4	uc021xjp.1,p.A3785V|ENST00000470451,p.A3785V|ENST00000466475,p.A3785V|ENST00000463781,p.A3785V|ENST00000475231,p.A3785V|ENST00000477086,p.A3785V|ENST00000479406,p.A3785V|NM_018406,p.A3785V|ENST00000477756,p.A3785V|ENST00000462323,p.A3785V|ENST00000480843,p.A3785V|ENST00000478156,p.A3785V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C11354T	p.A3785V	HATPLPVTDASSASTGDTTPLPVTD	HATPLPVTDASSVSTGDTTPLPVTD	6.0	4.0	unscreened	-	4281_3:195507097-195507097 G>A_HATPLPVTDASSVSTGDTTPLPVTD
X:41010268-41010268 G>C	1.0	4281	COLON	-	-	-	-	USP9X	uc004dfc.3,p.R574T|ENST00000324545,p.R574T|NM_001039591,p.R574T|uc004dfb.3,p.R574T|ENST00000453805,p.R574T|ENST00000378308,p.R574T|NM_001039590,p.R574T	retained_intron, protein_coding, nonsense_mediated_decay	uc004dfc.3	nonsynonymous SNV	exon13	c.G1721C	p.R574T	NDKWVIPALKQIREICSLFGEAPQN	NDKWVIPALKQITEICSLFGEAPQN	9.0	3.0	-	-	4281_X:41010268-41010268 G>C_NDKWVIPALKQITEICSLFGEAPQN
2:128386066-128386066 A>G	1.0	4281	COLON	-	-	-	-	MYO7B	ENST00000409090,p.E354G|ENST00000389524,p.E1501G|uc002tor.1,p.E354G|NM_001080527,p.E1501G|ENST00000428314,p.E1501G|ENST00000409816,p.E1501G|uc002top.3,p.E1501G	retained_intron, protein_coding	uc002tor.1	nonsynonymous SNV	exon8	c.A1061G	p.E354G	AELVALFLEGLKERSIFAMALQDRK	AELVALFLEGLKGRSIFAMALQDRK	8.0	5.0	-	-	4281_2:128386066-128386066 A>G_AELVALFLEGLKGRSIFAMALQDRK
X:53279993-53279993 C>T	1.0	4281	COLON	-	-	-	-	IQSEC2	uc004dsc.3,p.A384T|ENST00000375368,p.A579T|ENST00000396435,p.A589T|ENST00000375365,p.A384T|uc004dsd.3,p.A589T|NM_001111125,p.A589T|uc022bxf.1,p.A352T|NM_015075,p.A384T	protein_coding, processed_transcript	uc022bxf.1	nonsynonymous SNV	exon4	c.G1054A	p.A352T	GCLECRDFRLRAAHLPLLTIEPPSD	GCLECRDFRLRATHLPLLTIEPPSD	6.0	10.0	-	-	4281_X:53279993-53279993 C>T_GCLECRDFRLRATHLPLLTIEPPSD
3:126071131-126071131 G>A	0.0	4281	COLON	-	-	-	-	KLF15	NM_014079,p.T212M|uc011bkk.1,p.T212M|ENST00000296233,p.T212M	protein_coding, processed_transcript	uc011bkk.1	nonsynonymous SNV	exon2	c.C635T	p.T212M	SAGGAQGPGGGPTPDGPIPVLLQIQ	SAGGAQGPGGGPMPDGPIPVLLQIQ	2.0	7.0	-	-	4281_3:126071131-126071131 G>A_SAGGAQGPGGGPMPDGPIPVLLQIQ
11:20181837-20181837 C>T	1.0	4281	COLON	-	-	-	-	DBX1	ENST00000524983,p.G12R|NM_001029865,p.G12R|ENST00000227256,p.G12R|uc021qey.1,p.G12R	protein_coding	uc021qey.1	nonsynonymous SNV	exon1	c.G34A	p.G12R	MMFPGLLAPPAGYPSLLRPTPTLT	MMFPGLLAPPARYPSLLRPTPTLT	3.0	3.0	-	-	4281_11:20181837-20181837 C>T_MMFPGLLAPPARYPSLLRPTPTLT
12:7015637-7015637 A>G	1.0	4281	COLON	-	-	-	-	LRRC23	uc001qrq.3,p.N101D|ENST00000323702,p.N101D|ENST00000007969,p.N101D|ENST00000433346,p.N101D|uc009zfh.3,p.N101D|uc001qrp.3,p.N101D|uc001qrs.3,p.N50D|NM_001135217,p.N101D|NM_201650,p.N101D|ENST00000443597,p.N101D|ENST00000436789,p.N101D|ENST00000429740,p.N101D|NM_006992,p.N101D|uc001qrt.4,p.N101D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zfh.3	nonsynonymous SNV	exon3	c.A301G	p.N101D	SYIHLRYVDISENHLTDLSPLNYLT	SYIHLRYVDISEDHLTDLSPLNYLT	7.0	7.0	-	-	4281_12:7015637-7015637 A>G_SYIHLRYVDISEDHLTDLSPLNYLT
10:123325101-123325101 C>A	1.0	4281	COLON	-	-	-	1	FGFR2	uc010qtq.2,p.G95V|uc001lfo.1,p.G95V|uc010qtl.2,p.G76V|ENST00000358487,p.G76V|uc010qtp.2,p.G95V|ENST00000369061,p.G76V|NM_001144913,p.G76V|ENST00000369058,p.G76V|ENST00000351936,p.G76V|ENST00000369060,p.G76V|uc021pzz.1,p.G76V|uc010qtn.2,p.G95V|NM_022970,p.G76V|NM_001144914,p.G76V|uc021qaa.1,p.G76V|ENST00000346997,p.G76V|uc021pzy.1,p.G76V|NM_001144917,p.G76V|ENST00000359354,p.G76V|ENST00000369056,p.G76V|uc021pzv.1,p.G76V|NM_000141,p.G76V|ENST00000457416,p.G76V	retained_intron, protein_coding, processed_transcript	uc021qaa.1	nonsynonymous SNV	exon2	c.G227T	p.G76V	LKDAAVISWTKDGVHLGPNNRTVLI	LKDAAVISWTKDVVHLGPNNRTVLI	7.0	3.0	-	-	4281_10:123325101-123325101 C>A_LKDAAVISWTKDVVHLGPNNRTVLI
10:72492109-72492109 G>T	0.0	4281	COLON	-	-	-	-	ADAMTS14	NM_080722,p.G401V|ENST00000373208,p.G404V|NM_139155,p.G404V|ENST00000373207,p.G401V|uc001jrg.3,p.G404V|uc001jrh.3,p.G401V	protein_coding	uc001jrh.3	nonsynonymous SNV	exon7	c.G1202T	p.G401V	GFSSAFVIAHETGHVLGMEHDGQGN	GFSSAFVIAHETVHVLGMEHDGQGN	4.0	8.0	-	-	4281_10:72492109-72492109 G>T_GFSSAFVIAHETVHVLGMEHDGQGN
11:63149671-63149671 A>-	0.0	4281	COLON	-	-	ID=COSM1163655;OCCURENCE=1(pancreas),2(liver),2(upper_aerodigestive_tract),2(oesophagus)	-	SLC22A9	NM_080866,p.Q332fs|ENST00000279178,p.Q332fs|uc001nww.3,p.Q332fs	protein_coding, nonsense_mediated_decay	uc001nww.3	frameshift deletion	exon6	c.995delA	p.Q332fs	LKSTMKKELEAAQKKKPSLCEMLHM	LKSTMKKELEAAQKKNLLCVKCSTCPTYVKGSPSCPLRDLQTLWPILALISMSSIWGTMFSCCRLSLVQSSSWPTVLHLGH	1.0	1.0	unscreened	-	4281_11:63149671-63149671 A>-_LKSTMKKELEAAQKKNLLCVKCSTCPTYVKGSPSCPLRDLQTLWPILALISMSSIWGTMFSCCRLSLVQSSSWPTVLHLGH
19:35173709-35173709 T>G	1.0	4281	COLON	-	-	-	-	ZNF302	NM_001289184,p.F13V|uc002nvs.1,p.F13V|ENST00000505163,p.F13V|uc002nvq.1,p.F13V|ENST00000506901,p.F13V|ENST00000507959,p.F13V|uc002nvp.1,p.F13V|NM_001289182,p.F13V|ENST00000423823,p.F13V|NM_001289189,p.F13V|NM_001289183,p.F13V|ENST00000505365,p.F13V|NM_001289188,p.F13V|NM_018675,p.F13V|NM_001012320,p.F13V|NM_001289192,p.F13V|NM_001289185,p.F13V|ENST00000457781,p.F13V|NM_001289187,p.F13V|NM_001289186,p.F13V|uc010xrz.1,p.F13V|NM_001289191,p.F13V|NM_001289190,p.F13V|ENST00000505242,p.F13V|ENST00000502743,p.F13V|NM_018443,p.F13V	retained_intron, protein_coding, processed_transcript	uc010xrz.1	nonsynonymous SNV	exon3	c.T37G	p.F13V	MSQVTFSDVAIDFSHEEWACLDSAQ	MSQVTFSDVAIDVSHEEWACLDSAQ	7.0	2.0	-	-	4281_19:35173709-35173709 T>G_MSQVTFSDVAIDVSHEEWACLDSAQ
19:35173709-35173709 T>G	1.0	4281	COLON	-	-	-	-	ZNF302	ENST00000446502,p.F57V|uc002nvr.1,p.F57V|NM_001289181,p.F57V	retained_intron, protein_coding, processed_transcript	uc002nvr.1	nonsynonymous SNV	exon4	c.T169G	p.F57V	GGDVTFSDVAIDFSHEEWACLDSAQ	GGDVTFSDVAIDVSHEEWACLDSAQ	7.0	2.0	-	-	4281_19:35173709-35173709 T>G_GGDVTFSDVAIDVSHEEWACLDSAQ
14:65208090-65208090 G>T	1.0	4281	COLON	-	-	ID=COSM3956151;OCCURENCE=1(lung)	-	PLEKHG3	ENST00000471182,p.V152L|ENST00000484731,p.V124L|uc001xhp.2,p.V740L|uc001xhq.1,p.V124L|ENST00000247226,p.V563L|NM_015549,p.V563L|uc001xhn.1,p.V563L|ENST00000394691,p.V619L|uc010aqh.1,p.V161L|uc001xho.1,p.V619L	retained_intron, protein_coding, processed_transcript	uc010aqh.1	nonsynonymous SNV	exon10	c.G481T	p.V161L	ERFVSSFSRRSSVAQEDSKSSGFGS	ERFVSSFSRRSSLAQEDSKSSGFGS	6.0	10.0	-	-	4281_14:65208090-65208090 G>T_ERFVSSFSRRSSLAQEDSKSSGFGS
9:43915500-43915500 G>C	1.0	4281	COLON	-	rs75532298	-	-	CNTNAP3B	ENST00000377564,p.G1195R|uc004ada.2,p.G1195R|NM_001201380,p.G1195R	protein_coding, processed_transcript, nonsense_mediated_decay	uc004ada.2	nonsynonymous SNV	exon22	c.G3583C	p.G1195R	LRPSGPSRVTVRGHVAPMARCAAGA	LRPSGPSRVTVRRHVAPMARCAAGA	6.0	4.0	unscreened	-	4281_9:43915500-43915500 G>C_LRPSGPSRVTVRRHVAPMARCAAGA
2:166848014-166848014 C>T	0.0	4281	COLON	-	-	-	-	SCN1A	uc021vsb.1,p.R1913H|ENST00000423058,p.R1924H|NM_001165963,p.R1924H|NM_001165964,p.R1896H|ENST00000375405,p.R1913H|NM_001202435,p.R1924H|ENST00000303395,p.R1924H|ENST00000409050,p.R1896H|uc010fpk.3,p.R1896H|NM_006920,p.R1913H|uc002udo.4,p.R1924H	retained_intron, protein_coding	uc021vsb.1	nonsynonymous SNV	exon26	c.G5738A	p.R1913H	RKQEEVSAVIIQRAYRRHLLKRTVK	RKQEEVSAVIIQHAYRRHLLKRTVK	1.0	4.0	-	-	4281_2:166848014-166848014 C>T_RKQEEVSAVIIQHAYRRHLLKRTVK
17:34499690-34499690 A>G	0.0	4281	COLON	-	rs200466795	-	-	CCL4,CCL3L3	ENST00000454519,p.I117T|ENST00000398801,p.I117T|ENST00000586369,p.I37T|uc002hky.2,p.I117T	retained_intron, protein_coding, nonsense_mediated_decay	uc002hky.2	nonsynonymous SNV	exon6	c.T350C	p.I117T	NIRGPMWSVLLNIEEMKLKNPGRYQ	NIRGPMWSVLLNTEEMKLKNPGRYQ	6.0	2.0	unscreened	-	4281_17:34499690-34499690 A>G_NIRGPMWSVLLNTEEMKLKNPGRYQ
16:88695169-88695169 G>T	1.0	4281	COLON	-	-	-	-	ZC3H18	NM_001294340,p.A849S|ENST00000565583,p.A68S|ENST00000301011,p.A825S|uc010voz.2,p.A849S|ENST00000452588,p.A849S|uc002fkz.3,p.A95S|NM_144604,p.A825S|uc002fky.3,p.A825S	retained_intron, protein_coding	uc010voz.2	nonsynonymous SNV	exon17	c.G2545T	p.A849S	HKEIKLTLLNKAADKGSRKRYEPSD	HKEIKLTLLNKASDKGSRKRYEPSD	9.0	4.0	-	-	4281_16:88695169-88695169 G>T_HKEIKLTLLNKASDKGSRKRYEPSD
14:24587723-24587723 A>G	1.0	4281	COLON	-	-	-	-	DCAF11	ENST00000559115,p.Y235C|uc001wma.4,p.Y235C|uc001wlv.3,p.Y235C|ENST00000446197,p.Y235C|uc001wlw.3,p.Y235C|uc010tny.2,p.Y102C|uc001wmb.4,p.Y209C|NM_181357,p.Y209C|NM_001163484,p.Y235C|ENST00000396936,p.Y135C|NM_025230,p.Y235C|ENST00000396941,p.Y209C|uc001wly.3,p.Y191C|uc001wmc.3,p.Y135C|uc001wlz.3,p.Y135C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tny.2	nonsynonymous SNV	exon6	c.A305G	p.Y102C	DVAFTPDGNHFLYSSWSDYIHICNI	DVAFTPDGNHFLCSSWSDYIHICNI	9.0	10.0	-	-	4281_14:24587723-24587723 A>G_DVAFTPDGNHFLCSSWSDYIHICNI
3:195506983-195506983 G>T	1.0	4281	COLON	-	-	-	2	MUC4	ENST00000463781,p.T3823N|ENST00000478156,p.T3823N|ENST00000477756,p.T3823N|NM_018406,p.T3823N|ENST00000479406,p.T3823N|ENST00000475231,p.T3823N|ENST00000466475,p.T3823N|ENST00000477086,p.T3823N|ENST00000470451,p.T3823N|ENST00000462323,p.T3823N|uc021xjp.1,p.T3823N|ENST00000480843,p.T3823N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C11468A	p.T3823N	VTSLSSVSTGDTTPLPVTDASSAST	VTSLSSVSTGDTNPLPVTDASSAST	6.0	1.0	unscreened	-	4281_3:195506983-195506983 G>T_VTSLSSVSTGDTNPLPVTDASSAST
4:44690143-44690143 C>T	1.0	4281	COLON	-	-	-	-	GUF1	ENST00000281543,p.A353V|uc003gww.4,p.A353V|NM_021927,p.A353V	protein_coding, processed_transcript, nonsense_mediated_decay	uc003gww.4	nonsynonymous SNV	exon9	c.C1058T	p.A353V	KQPVEPLPGFKSAKPMVFAGMYPLD	KQPVEPLPGFKSVKPMVFAGMYPLD	7.0	5.0	-	-	4281_4:44690143-44690143 C>T_KQPVEPLPGFKSVKPMVFAGMYPLD
3:195511091-195511091 T>G	1.0	4281	COLON	-	-	-	2	MUC4	ENST00000470451,p.T2454P|ENST00000480843,p.T2454P|ENST00000466475,p.T2454P|ENST00000462323,p.T2454P|ENST00000478156,p.T2454P|ENST00000475231,p.T2454P|ENST00000463781,p.T2454P|ENST00000477086,p.T2454P|NM_018406,p.T2454P|ENST00000479406,p.T2454P|ENST00000477756,p.T2454P|uc021xjp.1,p.T2454P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.A7360C	p.T2454P	STGHATPLPVTSTSSASTGDTTPLP	STGHATPLPVTSPSSASTGDTTPLP	6.0	1.0	unscreened	-	4281_3:195511091-195511091 T>G_STGHATPLPVTSPSSASTGDTTPLP
1:103352503-103352503 G>A	0.0	4281	COLON	0.0005	-	ID=COSM256670;OCCURENCE=1(large_intestine)	-	COL11A1	uc009weh.3,p.S1457L|ENST00000358392,p.S1585L|NM_001190709,p.S1534L|ENST00000370096,p.S1573L|uc001dul.3,p.S1573L|ENST00000353414,p.S1534L|NM_080629,p.S1585L|NM_080630,p.S1457L|NM_001854,p.S1573L|ENST00000512756,p.S1457L|uc001dum.3,p.S1585L|uc001duk.3,p.S769L|uc001dun.3,p.S1534L	retained_intron, protein_coding, processed_transcript	uc009weh.3	nonsynonymous SNV	exon61	c.C4370T	p.S1457L	MQADADDNILDYSDGMEEIFGSLNS	MQADADDNILDYLDGMEEIFGSLNS	8.0	8.0	-	-	4281_1:103352503-103352503 G>A_MQADADDNILDYLDGMEEIFGSLNS
2:206874448-206874448 G>T	1.0	4281	COLON	-	-	-	-	INO80D	NM_017759,p.T538N|ENST00000403263,p.T538N|uc002vaz.4,p.T538N	protein_coding	uc002vaz.4	nonsynonymous SNV	exon9	c.C1613A	p.T538N	VQHQQQRKPRKKTKPPALTKKHKKK	VQHQQQRKPRKKNKPPALTKKHKKK	7.0	5.0	-	-	4281_2:206874448-206874448 G>T_VQHQQQRKPRKKNKPPALTKKHKKK
19:51022018-51022018 C>T	0.0	4281	COLON	-	-	-	-	LRRC4B	uc002pss.3,p.D318N|ENST00000599957,p.D318N|NM_001080457,p.D318N|ENST00000389201,p.D318N	protein_coding	uc002pss.3	nonsynonymous SNV	exon3	c.G952A	p.D318N	VHLNHNPWHCNCDVLWLSWWLKETV	VHLNHNPWHCNCNVLWLSWWLKETV	4.0	3.0	-	-	4281_19:51022018-51022018 C>T_VHLNHNPWHCNCNVLWLSWWLKETV
19:58199335-58199335 ->G	0.0	4281	COLON	-	-	-	-	ZNF551	ENST00000282296,p.C564fs|uc031rni.1,p.C536fs|ENST00000601064,p.C536fs|NM_138347,p.C564fs|uc002qpv.5,p.C491fs|ENST00000356715,p.C548fs|uc002qpw.5,p.C564fs|NM_001270938,p.C536fs	protein_coding	uc031rni.1	frameshift insertion	exon3	c.1609dupG	p.C536fs	LHTGERPYECSECGKSFSQSASLIQ	LHTGERPYECSECGKVF	6.0	1.0	unscreened	-	4281_19:58199335-58199335 ->G_LHTGERPYECSECGKVF
11:4976077-4976077 T>G	0.0	4281	COLON	-	rs2570573	-	-	OR51A2	uc010qyt.2,p.K289N|ENST00000380371,p.K289N|NM_001004748,p.K289N	protein_coding	uc010qyt.2	nonsynonymous SNV	exon1	c.A867C	p.K289N	MANVLLLVPPLMKPIVYCVKTKQIR	MANVLLLVPPLMNPIVYCVKTKQIR	1.0	4.0	-	-	4281_11:4976077-4976077 T>G_MANVLLLVPPLMNPIVYCVKTKQIR
4:9218364-9218364 C>T	0.0	4281	COLON	-	-	-	-	USP17L11,USP17L18,USP17L20	NM_001256859,p.H412Y	protein_coding	NM_001256859	nonsynonymous SNV	exon1	c.C1234T	p.H412Y	DRRAKQGELKRDHPCLQAPELDEHL	DRRAKQGELKRDYPCLQAPELDEHL	1.0	1.0	unscreened	-	4281_4:9218364-9218364 C>T_DRRAKQGELKRDYPCLQAPELDEHL
4:9218364-9218364 C>T	0.0	4281	COLON	-	-	-	-	USP17L11,USP17L18,USP17L20	NM_001256861,p.H412Y|ENST00000457736,p.H412Y|NM_001256854,p.H412Y|uc031sdh.1,p.H412Y	protein_coding	uc031sdh.1	nonsynonymous SNV	exon1	c.C1234T	p.H412Y	DRRATQGELKRDHPCLQAPELDEHL	DRRATQGELKRDYPCLQAPELDEHL	1.0	1.0	unscreened	-	4281_4:9218364-9218364 C>T_DRRATQGELKRDYPCLQAPELDEHL
1:151065730-151065730 G>T	1.0	4281	COLON	-	-	-	-	GABPB2	ENST00000368917,p.E113D|ENST00000368916,p.E113D|uc010pcp.1,p.E129D|ENST00000368918,p.E113D|NM_144618,p.E113D|uc001ewr.2,p.E113D	protein_coding, processed_transcript	uc010pcp.1	nonsynonymous SNV	exon5	c.G387T	p.E129D	DMLKMTALHWATERHHRDVVELLIK	DMLKMTALHWATDRHHRDVVELLIK	6.0	6.0	-	-	4281_1:151065730-151065730 G>T_DMLKMTALHWATDRHHRDVVELLIK
11:55135612-55135612 T>A	0.0	4281	COLON	-	-	-	-	OR4A15	uc010rif.2,p.S85T|ENST00000314706,p.S85T|NM_001005275,p.S85T	protein_coding	uc010rif.2	nonsynonymous SNV	exon1	c.T253A	p.S85T	IIVTIMASQSLGSPMYFFLASLSFI	IIVTIMASQSLGTPMYFFLASLSFI	1.0	4.0	-	-	4281_11:55135612-55135612 T>A_IIVTIMASQSLGTPMYFFLASLSFI
1:118582004-118582004 T>C	1.0	4281	COLON	-	-	-	-	SPAG17	ENST00000336338,p.D1077G|uc001ehk.2,p.D1077G|NM_206996,p.D1077G	protein_coding, processed_transcript	uc001ehk.2	nonsynonymous SNV	exon23	c.A3230G	p.D1077G	VKDNHNFMIHLNDPKEIVKKEEKGD	VKDNHNFMIHLNGPKEIVKKEEKGD	4.0	8.0	-	-	4281_1:118582004-118582004 T>C_VKDNHNFMIHLNGPKEIVKKEEKGD
16:55725894-55725894 C>T	1.0	4281	COLON	-	-	ID=COSM3818107,COSM3818108;OCCURENCE=1(breast)	-	SLC6A2	uc002eig.3,p.T283M|NM_001043,p.T283M|ENST00000567238,p.T178M|uc002eii.3,p.T178M|NM_001172504,p.T283M|NM_001172501,p.T283M|ENST00000414754,p.T283M|ENST00000379906,p.T283M|ENST00000568943,p.T283M|ENST00000561820,p.T283M|ENST00000219833,p.T283M|uc002eif.3,p.T283M|uc021tio.1,p.T283M|NM_001172502,p.T178M	protein_coding	uc021tio.1	nonsynonymous SNV	exon5	c.C848T	p.T283M	YFVLFVLLVHGVTLPGASNGINAYL	YFVLFVLLVHGVMLPGASNGINAYL	2.0	7.0	-	-	4281_16:55725894-55725894 C>T_YFVLFVLLVHGVMLPGASNGINAYL
20:54824201-54824201 T>C	0.0	4281	COLON	-	-	-	-	MC3R	NM_019888,p.V101A|ENST00000243911,p.V101A|uc002xxb.2,p.V101A	protein_coding	uc002xxb.2	nonsynonymous SNV	exon1	c.T302C	p.V101A	VSNALETIMIAIVHSDYLTFEDQFI	VSNALETIMIAIAHSDYLTFEDQFI	2.0	4.0	-	-	4281_20:54824201-54824201 T>C_VSNALETIMIAIAHSDYLTFEDQFI
3:12872988-12872988 C>T	0.0	4281	COLON	-	-	ID=COSM3059879,COSM3059877,COSM3059878;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	CAND2	uc003bxk.2,p.R1134W|ENST00000295989,p.R1017W|uc003bxj.2,p.R1017W|ENST00000456430,p.R1134W|NM_001162499,p.R1134W|NM_012298,p.R1017W|ENST00000454887,p.R62W	protein_coding, processed_transcript, nonsense_mediated_decay	uc003bxk.2	nonsynonymous SNV	exon14	c.C3400T	p.R1134W	YDIRMLTFIMVARLATLCPAPVLQR	YDIRMLTFIMVAWLATLCPAPVLQR	2.0	10.0	-	-	4281_3:12872988-12872988 C>T_YDIRMLTFIMVAWLATLCPAPVLQR
4:103832687-103832687 T>C	0.0	4281	COLON	-	-	-	-	SLC9B1	NM_139173,p.I279M|uc003hwu.3,p.I279M|ENST00000296422,p.I279M|NM_001100874,p.I279M|ENST00000394789,p.I279M|uc003hww.3,p.I279M|ENST00000514340,p.I222M|uc010ilm.3,p.I46M	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ilm.3	nonsynonymous SNV	exon7	c.A138G	p.I46M	NTCLSIVFSSGGILNNAIASIRNVC	NTCLSIVFSSGGMLNNAIASIRNVC	5.0	2.0	unscreened	-	4281_4:103832687-103832687 T>C_NTCLSIVFSSGGMLNNAIASIRNVC
4:103832650-103832650 T>A	0.0	4281	COLON	-	-	-	-	SLC9B1	ENST00000394789,p.I292F|NM_139173,p.I292F|ENST00000514340,p.I235F|ENST00000511253,p.I17F|ENST00000296422,p.I292F|uc010ilm.3,p.I59F|uc011cev.2,p.I65F|uc003hww.3,p.I292F|NM_001100874,p.I292F|uc003hwu.3,p.I292F	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cev.2	nonsynonymous SNV	exon5	c.A193T	p.I65F	LNNAIASIRNVCISLLAGIVLGFFV	LNNAIASIRNVCFSLLAGIVLGFFV	5.0	2.0	unscreened	-	4281_4:103832650-103832650 T>A_LNNAIASIRNVCFSLLAGIVLGFFV
4:103832687-103832687 T>C	0.0	4281	COLON	-	-	-	-	SLC9B1	uc011cev.2,p.I52M	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cev.2	nonsynonymous SNV	exon5	c.A156G	p.I52M	PSASRVPGTTGGILNNAIASIRNVC	PSASRVPGTTGGMLNNAIASIRNVC	5.0	2.0	unscreened	-	4281_4:103832687-103832687 T>C_PSASRVPGTTGGMLNNAIASIRNVC
6:35928870-35928870 A>G	0.0	4281	COLON	-	-	-	-	SLC26A8	uc003oll.3,p.W385R|uc003olm.3,p.W490R|NM_138718,p.W385R|NM_052961,p.W490R|uc003olk.3,p.W72R|ENST00000394602,p.W385R|ENST00000490799,p.W490R|NM_001193476,p.W490R|uc003oln.3,p.W490R|ENST00000355574,p.W490R	retained_intron, protein_coding, nonsense_mediated_decay	uc003oln.3	nonsynonymous SNV	exon13	c.T1468C	p.W490R	SLWRQDQYDCALWMMTFSSSIFLGL	SLWRQDQYDCALRMMTFSSSIFLGL	2.0	6.0	-	-	4281_6:35928870-35928870 A>G_SLWRQDQYDCALRMMTFSSSIFLGL
X:140995299-140995299 C>A	1.0	4281	COLON	-	-	-	-	MAGEC1	NM_005462,p.D703E|ENST00000285879,p.D703E|uc022cfi.1,p.D362E|uc004fbt.3,p.D703E	protein_coding	uc022cfi.1	nonsynonymous SNV	exon1	c.C1086A	p.D362E	PLQIPQSPLEGEDSLSSLHFPQSPP	PLQIPQSPLEGEESLSSLHFPQSPP	2.0	6.0	-	-	4281_X:140995299-140995299 C>A_PLQIPQSPLEGEESLSSLHFPQSPP
9:140057067-140057067 G>A	1.0	4281	COLON	-	-	-	-	GRIN1	ENST00000371555,p.R651H|ENST00000315048,p.R630H|uc004clj.1,p.R627H|ENST00000350902,p.R630H|uc004cli.1,p.R305H|ENST00000371546,p.R651H|NM_021569,p.R630H|ENST00000371561,p.R630H|uc004clm.3,p.R630H|ENST00000371553,p.R651H|uc004cll.3,p.R630H|ENST00000371559,p.R630H|NM_001185091,p.R651H|NM_007327,p.R630H|uc004clk.3,p.R630H|NM_001185090,p.R651H|uc004cln.3,p.R651H|ENST00000371550,p.R630H|ENST00000371560,p.R651H|NM_000832,p.R630H|uc004clo.3,p.R651H	protein_coding, processed_transcript	uc004clo.3	nonsynonymous SNV	exon15	c.G1952A	p.R651H	GIGEGAPRSFSARILGMVWAGFAMI	GIGEGAPRSFSAHILGMVWAGFAMI	3.0	8.0	-	-	4281_9:140057067-140057067 G>A_GIGEGAPRSFSAHILGMVWAGFAMI
17:34105972-34105972 G>A	1.0	4281	COLON	-	-	ID=COSM705480;OCCURENCE=1(lung)	-	MMP28	uc002hka.3,p.A100V|ENST00000590643,p.A100V|ENST00000589103,p.A100V|ENST00000250144,p.A100V|uc002hjy.1,p.A100V|ENST00000589061,p.A100V|ENST00000587639,p.A100V|ENST00000593125,p.A78V|NM_001032278,p.A100V	protein_coding, nonsense_mediated_decay	uc002hka.3	nonsynonymous SNV	exon3	c.C299T	p.A100V	RPRCGVTDTNSYAAWAERISDLFAR	RPRCGVTDTNSYVAWAERISDLFAR	6.0	6.0	-	-	4281_17:34105972-34105972 G>A_RPRCGVTDTNSYVAWAERISDLFAR
2:113984748-113984748 G>A	0.0	4281	COLON	-	-	-	1	PAX8	ENST00000263334,p.S365L|uc002tjm.3,p.S288L|ENST00000263335,p.S288L|NM_013952,p.S365L|NM_013953,p.S288L|uc010yxu.2,p.S365L|ENST00000348715,p.S365L	retained_intron, protein_coding, nonsense_mediated_decay	uc010yxu.2	nonsynonymous SNV	exon10	c.C1094T	p.S365L	PPADRAAMPPLPSQAWWQEVNTLAM	PPADRAAMPPLPLQAWWQEVNTLAM	4.0	9.0	-	-	4281_2:113984748-113984748 G>A_PPADRAAMPPLPLQAWWQEVNTLAM
11:618899-618899 C>T	0.0	4281	COLON	-	-	-	-	CDHR5	NM_001171968,p.G548S|uc009ycd.3,p.G548S|uc001lql.3,p.G554S|ENST00000397542,p.G554S|NM_021924,p.G554S|uc009ycc.3,p.G388S|ENST00000358353,p.G554S|uc001lqj.3,p.G554S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009ycd.3	nonsynonymous SNV	exon13	c.G1642A	p.G548S	TPKPGTSQPMPPGVGTSTSHQPATP	TPKPGTSQPMPPSVGTSTSHQPATP	7.0	1.0	unscreened	-	4281_11:618899-618899 C>T_TPKPGTSQPMPPSVGTSTSHQPATP
19:38103365-38103365 G>A	1.0	4281	COLON	0.0005	-	ID=COSM172757;OCCURENCE=1(large_intestine)	-	ZNF540	ENST00000589117,p.R363H|NM_152606,p.R395H|uc002ogu.4,p.R395H|NM_001172226,p.R363H|ENST00000343599,p.R395H|ENST00000316433,p.R395H|uc010efq.4,p.R363H|ENST00000586134,p.R395H|uc002ogq.4,p.R395H|NM_001172225,p.R395H|ENST00000592533,p.R395H	retained_intron, protein_coding, processed_transcript	uc010efq.4	nonsynonymous SNV	exon4	c.G1088A	p.R363H	YECKECGKSFNVRGQLNRHKTIHTG	YECKECGKSFNVHGQLNRHKTIHTG	4.0	6.0	-	-	4281_19:38103365-38103365 G>A_YECKECGKSFNVHGQLNRHKTIHTG
3:195507098-195507098 C>A	0.0	4281	COLON	-	-	-	2	MUC4	ENST00000480843,p.A3785S|ENST00000475231,p.A3785S|ENST00000462323,p.A3785S|uc021xjp.1,p.A3785S|ENST00000478156,p.A3785S|ENST00000463781,p.A3785S|ENST00000477756,p.A3785S|ENST00000466475,p.A3785S|NM_018406,p.A3785S|ENST00000470451,p.A3785S|ENST00000479406,p.A3785S|ENST00000477086,p.A3785S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G11353T	p.A3785S	HATPLPVTDASSASTGDTTPLPVTD	HATPLPVTDASSSSTGDTTPLPVTD	6.0	1.0	unscreened	-	4281_3:195507098-195507098 C>A_HATPLPVTDASSSSTGDTTPLPVTD
1:165324739-165324739 A>G	0.0	4281	COLON	-	-	-	-	LMX1A	ENST00000367893,p.S20P|uc001gcz.2,p.S20P|ENST00000294816,p.S20P|uc021pdz.1,p.S20P|NM_001174069,p.S20P|ENST00000342310,p.S20P|NM_177398,p.S20P	protein_coding, processed_transcript	uc021pdz.1	nonsynonymous SNV	exon2	c.T58C	p.S20P	EENFQSAIDTSASFSSLLGRAVSPK	EENFQSAIDTSAPFSSLLGRAVSPK	1.0	3.0	-	-	4281_1:165324739-165324739 A>G_EENFQSAIDTSAPFSSLLGRAVSPK
14:47601040-47601040 T>G	0.0	4281	COLON	-	-	-	-	MDGA2	ENST00000399232,p.K268Q|uc001wwj.4,p.K268Q|ENST00000439988,p.K199Q|NM_001113498,p.K199Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wwj.4	nonsynonymous SNV	exon5	c.A802C	p.K268Q	EIYEPFFTQGETKILKLKNLRPQDY	EIYEPFFTQGETQILKLKNLRPQDY	2.0	9.0	-	-	4281_14:47601040-47601040 T>G_EIYEPFFTQGETQILKLKNLRPQDY
8:73480121-73480121 G>A	0.0	4281	COLON	-	-	-	-	KCNB2	ENST00000523207,p.R51K|uc003xzb.3,p.R51K|NM_004770,p.R51K	protein_coding	uc003xzb.3	nonsynonymous SNV	exon2	c.G152A	p.R51K	INVGGLNHEVLWRTLDRLPRTRLGK	INVGGLNHEVLWKTLDRLPRTRLGK	1.0	7.0	-	-	4281_8:73480121-73480121 G>A_INVGGLNHEVLWKTLDRLPRTRLGK
4:134073264-134073264 G>C	0.0	4281	COLON	-	-	-	-	PCDH10	NM_032961,p.V657L|uc003igz.3,p.V657L|uc003iha.3,p.V657L|ENST00000264360,p.V657L|NM_020815,p.V657L	retained_intron, protein_coding	uc003iha.3	nonsynonymous SNV	exon1	c.G1969C	p.V657L	PAKRDPQRPYELVIEVRDHGQPPLS	PAKRDPQRPYELLIEVRDHGQPPLS	1.0	3.0	-	-	4281_4:134073264-134073264 G>C_PAKRDPQRPYELLIEVRDHGQPPLS
12:51868862-51868862 T>A	0.0	4281	COLON	-	-	-	-	SLC4A8	ENST00000453097,p.S682T|ENST00000358657,p.S709T|uc001rym.4,p.S629T|NM_001258403,p.S629T|ENST00000514353,p.S629T|NM_001258401,p.S629T|uc001ryr.3,p.S682T|uc001ryn.4,p.S629T|NM_001039960,p.S682T|uc001ryv.4,p.S629T|uc001rys.2,p.S682T|uc010snk.2,p.S629T|uc010snj.2,p.S709T|ENST00000394856,p.S629T	retained_intron, protein_coding, processed_transcript	uc010snk.2	nonsynonymous SNV	exon16	c.T1885A	p.S629T	SECQEMHGEFMGSACGHHGPYTPDV	SECQEMHGEFMGTACGHHGPYTPDV	4.0	5.0	-	-	4281_12:51868862-51868862 T>A_SECQEMHGEFMGTACGHHGPYTPDV
9:22451852-22451852 G>T	0.0	4281	COLON	-	-	-	-	DMRTA1	NM_022160,p.S486I|ENST00000325870,p.S486I|uc003zpp.1,p.S486I	protein_coding	uc003zpp.1	nonsynonymous SNV	exon2	c.G1457T	p.S486I	FSGMIRDSSYLSSKDSITCGRLYFR	FSGMIRDSSYLSIKDSITCGRLYFR	3.0	10.0	-	-	4281_9:22451852-22451852 G>T_FSGMIRDSSYLSIKDSITCGRLYFR
8:110447572-110447572 G>A	0.0	4281	COLON	-	-	-	-	PKHD1L1	uc003yne.3,p.G1165E|NM_177531,p.G1165E|ENST00000378402,p.G1165E	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon29	c.G3494A	p.G1165E	YQSQISHIWPDSGSIAGGTLLTLSG	YQSQISHIWPDSESIAGGTLLTLSG	2.0	5.0	-	-	4281_8:110447572-110447572 G>A_YQSQISHIWPDSESIAGGTLLTLSG
22:28692187-28692187 T>C	0.0	4281	COLON	-	-	-	-	TTC28	ENST00000397906,p.E311G|NM_001145418,p.E311G|uc003adp.4,p.E311G	retained_intron, protein_coding, processed_transcript	uc003adp.4	nonsynonymous SNV	exon5	c.A932G	p.E311G	HQLVLAMKLKDREAASSALSSLGHV	HQLVLAMKLKDRGAASSALSSLGHV	5.0	10.0	-	-	4281_22:28692187-28692187 T>C_HQLVLAMKLKDRGAASSALSSLGHV
7:40535981-40535981 C>T	0.0	4281	COLON	-	-	-	-	SUGCT	NM_001193313,p.P369L|uc003tho.2,p.P321L|uc003thn.2,p.P369L|ENST00000335693,p.P369L|NM_001193312,p.P321L|ENST00000401647,p.P321L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003tho.2	nonsynonymous SNV	exon11	c.C962T	p.P321L	GPINNMKNVFAEPQVLHNGLVMEME	GPINNMKNVFAELQVLHNGLVMEME	5.0	7.0	-	-	4281_7:40535981-40535981 C>T_GPINNMKNVFAELQVLHNGLVMEME
7:40535981-40535981 C>T	0.0	4281	COLON	-	-	-	-	SUGCT	NM_001193311,p.P369L|NM_024728,p.P332L|ENST00000309930,p.P369L|uc022acd.1,p.P369L	protein_coding, processed_transcript, nonsense_mediated_decay	uc022acd.1	nonsynonymous SNV	exon12	c.C1106T	p.P369L	GPINNMKNVFAEPQNAVSGFQSLLH	GPINNMKNVFAELQNAVSGFQSLLH	5.0	7.0	-	-	4281_7:40535981-40535981 C>T_GPINNMKNVFAELQNAVSGFQSLLH
6:117622155-117622155 T>C	0.0	4281	COLON	-	-	-	1	ROS1	uc003pxp.1,p.I2239V|ENST00000368508,p.I2239V|ENST00000368507,p.I2233V|NM_002944,p.I2239V	protein_coding	uc003pxp.1	nonsynonymous SNV	exon42	c.A6715G	p.I2239V	YKSRDEANNSGVINESFEGEDGDVI	YKSRDEANNSGVVNESFEGEDGDVI	1.0	10.0	-	-	4281_6:117622155-117622155 T>C_YKSRDEANNSGVVNESFEGEDGDVI
20:61981115-61981115 T>G	0.0	4281	COLON	-	-	-	-	CHRNA4	uc002yes.3,p.S550R|NM_001256573,p.S374R|uc002yet.2,p.S374R|ENST00000370263,p.S550R|NM_000744,p.S550R|uc010gke.1,p.S479R|uc010gkf.2,p.S374R|uc002yev.2,p.S374R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010gkf.2	nonsynonymous SNV	exon5	c.A1120C	p.S374R	SSVSPSATVKTRSTKAPPPHLPLSP	SSVSPSATVKTRRTKAPPPHLPLSP	4.0	4.0	-	-	4281_20:61981115-61981115 T>G_SSVSPSATVKTRRTKAPPPHLPLSP
X:34150304-34150304 G>A	0.0	4281	COLON	-	-	ID=COSM1472226;OCCURENCE=1(prostate)	-	FAM47A	NM_203408,p.A31V|uc004ddg.3,p.A31V|ENST00000346193,p.A31V	protein_coding	uc004ddg.3	nonsynonymous SNV	exon1	c.C92T	p.A31V	PWYCNKRPSKCFAKCKHRRLRFPPM	PWYCNKRPSKCFVKCKHRRLRFPPM	1.0	1.0	-	-	4281_X:34150304-34150304 G>A_PWYCNKRPSKCFVKCKHRRLRFPPM
4:103832665-103832665 T>C	0.0	4281	COLON	-	-	-	-	SLC9B1	NM_001100874,p.I287V|NM_139173,p.I287V|ENST00000296422,p.I287V|uc010ilm.3,p.I54V|uc003hww.3,p.I287V|ENST00000514340,p.I230V|ENST00000394789,p.I287V|uc003hwu.3,p.I287V	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ilm.3	nonsynonymous SNV	exon7	c.A160G	p.I54V	SSGGILNNAIASIRNVCISLLAGIV	SSGGILNNAIASVRNVCISLLAGIV	5.0	2.0	unscreened	-	4281_4:103832665-103832665 T>C_SSGGILNNAIASVRNVCISLLAGIV
4:103832665-103832665 T>C	0.0	4281	COLON	-	-	-	-	SLC9B1	uc011cev.2,p.I60V	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cev.2	nonsynonymous SNV	exon5	c.A178G	p.I60V	TTGGILNNAIASIRNVCISLLAGIV	TTGGILNNAIASVRNVCISLLAGIV	5.0	2.0	unscreened	-	4281_4:103832665-103832665 T>C_TTGGILNNAIASVRNVCISLLAGIV
19:6669933-6669933 C>T	0.0	4281	COLON	-	-	ID=COSM1564942;OCCURENCE=1(large_intestine)	-	TNFSF14	ENST00000599359,p.G50R|NM_003807,p.G50R|uc002mfk.2,p.G50R	protein_coding	uc002mfk.2	nonsynonymous SNV	exon2	c.G148A	p.G50R	VGLGLLLLLMGAGLAVQGWFLLQLH	VGLGLLLLLMGARLAVQGWFLLQLH	3.0	2.0	-	-	4281_19:6669933-6669933 C>T_VGLGLLLLLMGARLAVQGWFLLQLH
2:239237693-239237693 G>A	1.0	4281	COLON	-	-	-	-	TRAF3IP1	ENST00000391994,p.G209R|NM_015650,p.G209R|ENST00000391993,p.G209R|uc002vye.3,p.G209R|ENST00000373327,p.G209R|NM_001139490,p.G209R|uc002vyf.3,p.G209R	retained_intron, protein_coding, nonsense_mediated_decay	uc002vyf.3	nonsynonymous SNV	exon5	c.G625A	p.G209R	KDKDKEKAKENGGNRHREGERERAK	KDKDKEKAKENGRNRHREGERERAK	7.0	9.0	-	-	4281_2:239237693-239237693 G>A_KDKDKEKAKENGRNRHREGERERAK
10:92508939-92508939 T>C	0.0	4281	COLON	-	-	-	-	HTR7	ENST00000277874,p.I318V|uc001kgz.3,p.I318V|ENST00000371719,p.I318V|ENST00000371721,p.I318V|NM_019859,p.I318V|uc001kha.3,p.I318V|ENST00000336152,p.I318V|NM_000872,p.I318V|NM_019860,p.I318V|uc001khb.3,p.I318V	protein_coding	uc001khb.3	nonsynonymous SNV	exon2	c.A952G	p.I318V	SRLLKHERKNISIFKREQKAATTLG	SRLLKHERKNISVFKREQKAATTLG	2.0	8.0	-	-	4281_10:92508939-92508939 T>C_SRLLKHERKNISVFKREQKAATTLG
5:71491204-71491204 A>C	1.0	4281	COLON	-	-	-	-	MAP1B	ENST00000504492,p.K548N|uc003kbw.4,p.K674N|ENST00000296755,p.K674N|uc010iyy.1,p.K548N|uc010iyx.1,p.K548N|uc010iyw.1,p.K691N|NM_005909,p.K674N	protein_coding, processed_transcript, nonsense_mediated_decay	uc010iyy.1	nonsynonymous SNV	exon4	c.A1644C	p.K548N	KKEDKTPIKKEEKPKKEEVKKEVKK	KKEDKTPIKKEENPKKEEVKKEVKK	9.0	5.0	-	-	4281_5:71491204-71491204 A>C_KKEDKTPIKKEENPKKEEVKKEVKK
16:67183409-67183409 C>T	0.0	4281	COLON	-	-	-	-	B3GNT9	uc021tka.1,p.R327Q|NM_033309,p.R327Q|uc002erf.3,p.R327Q|ENST00000449549,p.R327Q	protein_coding	uc021tka.1	nonsynonymous SNV	exon1	c.G980A	p.R327Q	DDVFLGMCLQRLRLTPEPHPAFRTF	DDVFLGMCLQRLQLTPEPHPAFRTF	4.0	8.0	-	-	4281_16:67183409-67183409 C>T_DDVFLGMCLQRLQLTPEPHPAFRTF
8:2806839-2806839 A>T	0.0	4281	COLON	-	-	-	-	CSMD1	ENST00000542608,p.F3285I|ENST00000602723,p.F3286I|ENST00000520002,p.F3463I|ENST00000537824,p.F3462I|NM_033225,p.F3462I|ENST00000602557,p.F3463I|uc011kwj.2,p.F2777I|uc022aqr.1,p.F3462I|ENST00000400186,p.F3286I|uc010lrg.3,p.F1354I	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon68	c.T10384A	p.F3462I	FQGDIHGKDFGKFKLERQDPLNPDQ	FQGDIHGKDFGKIKLERQDPLNPDQ	1.0	10.0	-	-	4281_8:2806839-2806839 A>T_FQGDIHGKDFGKIKLERQDPLNPDQ
12:11461444-11461444 T>G	0.0	4281	COLON	-	-	-	-	PRB4	ENST00000535904,p.H158P|NM_002723,p.H158P|uc001qzf.2,p.H158P|ENST00000279575,p.H158P|uc001qzt.4,p.H158P	protein_coding	uc001qzt.4	nonsynonymous SNV	exon3	c.A473C	p.H158P	PQGGNQSQGPPPHPGKPEGPPPQEG	PQGGNQSQGPPPPPGKPEGPPPQEG	1.0	3.0	unscreened	-	4281_12:11461444-11461444 T>G_PQGGNQSQGPPPPPGKPEGPPPQEG
2:79385887-79385887 G>T	0.0	4281	COLON	-	-	-	-	REG3A	ENST00000393878,p.P29T|uc002sof.2,p.P29T|NM_002580,p.P29T|ENST00000305165,p.P29T|NM_138938,p.P29T|uc002soe.2,p.P29T|NM_138937,p.P29T|uc002sod.2,p.P29T|ENST00000409839,p.P29T	retained_intron, protein_coding	uc002sof.2	nonsynonymous SNV	exon3	c.C85A	p.P29T	CLMLLSQVQGEEPQRELPSARIRCP	CLMLLSQVQGEETQRELPSARIRCP	1.0	9.0	-	-	4281_2:79385887-79385887 G>T_CLMLLSQVQGEETQRELPSARIRCP
1:237863752-237863752 G>A	0.0	4281	COLON	-	-	-	-	RYR2	uc010pxz.1,p.G73R|ENST00000360064,p.G3116R|ENST00000542537,p.G3102R|ENST00000366574,p.G3118R|NM_001035,p.G3118R|uc001hyl.1,p.G3118R	protein_coding, processed_transcript	uc010pxz.1	nonsynonymous SNV	exon4	c.G217A	p.G73R	SSLFEHIGQHQFGEDLILEDVQVSC	SSLFEHIGQHQFREDLILEDVQVSC	4.0	7.0	-	-	4281_1:237863752-237863752 G>A_SSLFEHIGQHQFREDLILEDVQVSC
10:23481575-23481575 G>A	0.0	4281	COLON	-	-	-	-	PTF1A	uc001irp.3,p.G39D|NM_178161,p.G39D|ENST00000376504,p.G39D	protein_coding	uc001irp.3	nonsynonymous SNV	exon1	c.G116A	p.G39D	FTDQSSRDPLEDGDELLADEQAEVE	FTDQSSRDPLEDDDELLADEQAEVE	1.0	2.0	-	-	4281_10:23481575-23481575 G>A_FTDQSSRDPLEDDDELLADEQAEVE
18:70417417-70417417 T>G	0.0	4281	COLON	-	-	-	-	NETO1	ENST00000327305,p.N474T|ENST00000299430,p.N473T|ENST00000583169,p.N474T	protein_coding, processed_transcript	ENST00000583169	nonsynonymous SNV	exon9	c.A1421C	p.N474T	PGKPLIPPMNRRNILVMKHSYSQDA	PGKPLIPPMNRRTILVMKHSYSQDA	1.0	4.0	unscreened	-	4281_18:70417417-70417417 T>G_PGKPLIPPMNRRTILVMKHSYSQDA
3:30691871-30691871 ->A	1.0	4281	COLON	-	-	ID=COSM300123;OCCURENCE=1(large_intestine),1(pancreas)	1	TGFBR2	NM_001024847,p.E150fs|ENST00000359013,p.E150fs|uc003ceo.3,p.E125fs|ENST00000295754,p.E125fs|uc003cen.3,p.E150fs|NM_003242,p.E125fs	protein_coding	uc003ceo.3	frameshift insertion	exon3	c.374dupA	p.E125fs	LEDAASPKCIMKEKKKPGETFFMCS	LEDAASPKCIMKEKKKAW	8.0	9.0	-	-	4281_3:30691871-30691871 ->A_LEDAASPKCIMKEKKKAW
1:12855096-12855096 G>T	0.0	4281	COLON	-	-	-	-	PRAMEF1	NM_001294139,p.G37C|ENST00000400814,p.G37C	protein_coding	NM_001294139	nonsynonymous SNV	exon1	c.G109T	p.G37C	TNDPVSDSLFVKGCFELQERCLQNP	TNDPVSDSLFVKCCFELQERCLQNP	1.0	7.0	-	-	4281_1:12855096-12855096 G>T_TNDPVSDSLFVKCCFELQERCLQNP
7:123302165-123302165 G>C	0.0	4281	COLON	-	-	-	-	LMOD2	NM_207163,p.L175F|uc003vky.2,p.L175F|ENST00000458573,p.L175F	protein_coding	uc003vky.2	nonsynonymous SNV	exon2	c.G525C	p.L175F	PKIFKSQIENINLTNGSNGRNTESP	PKIFKSQIENINFTNGSNGRNTESP	1.0	9.0	-	-	4281_7:123302165-123302165 G>C_PKIFKSQIENINFTNGSNGRNTESP
1:248039709-248039709 C>A	0.0	4281	COLON	-	-	-	-	TRIM58	NM_015431,p.P460H|uc001ido.3,p.P460H|ENST00000366481,p.P460H	protein_coding	uc001ido.3	nonsynonymous SNV	exon6	c.C1379A	p.P460H	FFICDATPLILPPTTIAGSGNWASR	FFICDATPLILPHTTIAGSGNWASR	2.0	6.0	-	-	4281_1:248039709-248039709 C>A_FFICDATPLILPHTTIAGSGNWASR
18:9256550-9256550 ->A	1.0	4281	COLON	-	-	-	-	ANKRD12	uc002knv.3,p.H1095fs|NM_001083625,p.H1072fs|ENST00000383440,p.H1072fs|ENST00000262126,p.H1095fs|uc002knw.3,p.H1072fs|NM_015208,p.H1095fs|ENST00000400020,p.H1072fs|uc010dkx.1,p.H802fs|NM_001204056,p.H1072fs|uc002knx.3,p.H1072fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc010dkx.1	frameshift insertion	exon4	c.2407dupA	p.H802fs	MLSLKDLEIEQWHKKHKEKIKQKEK	MLSLKDLEIEQWHKKT	8.0	8.0	-	-	4281_18:9256550-9256550 ->A_MLSLKDLEIEQWHKKT
18:70417417-70417417 T>G	0.0	4281	COLON	-	-	-	-	NETO1	NM_138966,p.N474T|NM_001201465,p.N474T|uc002lkw.3,p.N474T|uc002lky.2,p.N474T	protein_coding, processed_transcript	uc002lky.2	nonsynonymous SNV	exon9	c.A1421C	p.N474T	PGKPLIPPMNRRNILVMKHNYSQDA	PGKPLIPPMNRRTILVMKHNYSQDA	1.0	4.0	-	-	4281_18:70417417-70417417 T>G_PGKPLIPPMNRRTILVMKHNYSQDA
6:84884494-84884494 ->TCCTGTTGTTTCTTTAGTTCTTCCAACTTATTTTCTAGTTCTTTC	0.0	4281	COLON	-	-	-	-	CEP162	ENST00000403245,p.E659delinsEKELENKLEELKKQQE|NM_001286206,p.E583delinsEKELENKLEELKKQQE|ENST00000257766,p.E583delinsEKELENKLEELKKQQE|NM_014895,p.E659delinsEKELENKLEELKKQQE|uc010kbp.3,p.E659delinsEKELENKLEELKKQQE|uc003pkj.4,p.E583delinsEKELENKLEELKKQQE|uc003pki.4,p.E45delinsEKELENKLEELKKQQE	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kbp.3	nonframeshift insertion	exon15	c.1976_1977insGAAAGAACTAGAAAATAAGTTGGAAGAACTAAAGAAACAACAGGA	p.E659delinsEKELENKLEELKKQQE	LENKLEELKKQQEKELFKLNQDNYI	LENKLEELKKQQEKELENKLEELKK	5.0	3.0	unscreened	-	4281_6:84884494-84884494 ->TCCTGTTGTTTCTTTAGTTCTTCCAACTTATTTTCTAGTTCTTTC_LENKLEELKKQQEKELENKLEELKK
6:16327921-16327921 C>A	1.0	4281	COLON	-	-	-	-	ATXN1	NM_000332,p.Q207H|uc010jpi.3,p.Q207H|NM_001128164,p.Q207H|ENST00000436367,p.Q207H|ENST00000244769,p.Q207H|uc003nbt.3,p.Q207H	protein_coding, processed_transcript	uc010jpi.3	nonsynonymous SNV	exon7	c.G621T	p.Q207H	AEQQQQQQQQQQQQHQHQQQQQQQQ	AEQQQQQQQQQQHQHQHQQQQQQQQ	8.0	3.0	unscreened	-	4281_6:16327921-16327921 C>A_AEQQQQQQQQQQHQHQHQQQQQQQQ
12:41582655-41582655 G>T	0.0	4281	COLON	-	-	-	-	PDZRN4	NM_001164595,p.C133F|uc010skn.2,p.C133F|ENST00000402685,p.C133F	retained_intron, protein_coding	uc010skn.2	nonsynonymous SNV	exon1	c.G398T	p.C133F	GLGGGEVPARGGCGPTPRAGRGGGA	GLGGGEVPARGGFGPTPRAGRGGGA	2.0	5.0	-	-	4281_12:41582655-41582655 G>T_GLGGGEVPARGGFGPTPRAGRGGGA
12:119583469-119583469 C>A	0.0	4281	COLON	-	-	-	-	SRRM4	NM_194286,p.T352N|ENST00000267260,p.T352N|uc001txa.2,p.T352N	protein_coding, processed_transcript	uc001txa.2	nonsynonymous SNV	exon9	c.C1055A	p.T352N	QNKGAMLENLSPTSRGRESRGFQSP	QNKGAMLENLSPNSRGRESRGFQSP	1.0	6.0	-	-	4281_12:119583469-119583469 C>A_QNKGAMLENLSPNSRGRESRGFQSP
21:46888440-46888440 G>A	1.0	4284	COLORECTAL	-	-	-	-	COL18A1	uc002zhi.3,p.G311R|ENST00000355480,p.G311R|uc002zhg.3,p.G131R|NM_030582,p.G311R|ENST00000400337,p.G131R|NM_130445,p.G131R|ENST00000359759,p.G546R	retained_intron, protein_coding, processed_transcript	uc002zhi.3	nonsynonymous SNV	exon2	c.G931A	p.G311R	VLLGVKLSGVQDGHQDISLLYTEPG	VLLGVKLSGVQDRHQDISLLYTEPG	9.0	10.0	-	-	4284_21:46888440-46888440 G>A_VLLGVKLSGVQDRHQDISLLYTEPG
11:47303261-47303261 C>G	1.0	4284	COLORECTAL	-	-	-	-	MADD	uc001ner.1,p.L476V|ENST00000342922,p.L476V|uc001neu.1,p.L476V|ENST00000349238,p.L476V|NM_130475,p.L476V|uc001neq.2,p.L476V|uc001nev.1,p.L476V|NM_130472,p.L476V|ENST00000395344,p.L476V|ENST00000406482,p.L476V|NM_130471,p.L476V|ENST00000311027,p.L476V|NM_001135944,p.L476V|uc009yln.1,p.L476V|NM_130473,p.L476V|ENST00000402799,p.L476V|uc001nes.1,p.L476V|NM_001135943,p.L476V|NM_130470,p.L476V|uc001new.2,p.L476V|NM_130476,p.L476V|ENST00000407859,p.L476V|ENST00000402192,p.L476V|NM_003682,p.L476V|ENST00000395336,p.L476V|uc001net.1,p.L476V|NM_130474,p.L476V|uc001nez.2,p.L476V|uc001nex.2,p.L476V	retained_intron, protein_coding, processed_transcript	uc009yln.1	nonsynonymous SNV	exon8	c.C1426G	p.L476V	DLQSTPSTEFNPLIYGNDVDSVDVA	DLQSTPSTEFNPVIYGNDVDSVDVA	9.0	1.0	-	-	4284_11:47303261-47303261 C>G_DLQSTPSTEFNPVIYGNDVDSVDVA
21:47551987-47551987 C>T	1.0	4284	COLORECTAL	-	-	-	-	COL6A2	uc002zia.1,p.R861W|NM_001849,p.R861W|ENST00000300527,p.R861W	retained_intron, protein_coding, processed_transcript	uc002zia.1	nonsynonymous SNV	exon28	c.C2581T	p.R861W	FHKARRFVEQVARRLTLARRDDDPL	FHKARRFVEQVAWRLTLARRDDDPL	10.0	9.0	-	-	4284_21:47551987-47551987 C>T_FHKARRFVEQVAWRLTLARRDDDPL
19:40880471-40880471 C>G	1.0	4284	COLORECTAL	-	-	-	-	PLD3	NM_012268,p.F321L|ENST00000409281,p.F321L|uc002onn.3,p.F321L|ENST00000409587,p.F321L|ENST00000409419,p.F321L|uc002onm.4,p.F321L|NM_001031696,p.F321L|ENST00000356508,p.F321L|uc002onj.4,p.F321L|NM_001291311,p.F321L|ENST00000409735,p.F321L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002onn.3	nonsynonymous SNV	exon10	c.C963G	p.F321L	KALLNVVDNARSFIYVAVMNYLPTL	KALLNVVDNARSLIYVAVMNYLPTL	10.0	8.0	-	-	4284_19:40880471-40880471 C>G_KALLNVVDNARSLIYVAVMNYLPTL
19:58489930-58489930 T>-	1.0	4284	COLORECTAL	-	-	-	-	ZNF606	ENST00000341164,p.K706fs|ENST00000536132,p.K616fs|uc002qqw.3,p.K706fs|uc010yhp.2,p.K616fs|NM_025027,p.K706fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yhp.2	frameshift deletion	exon6	c.1848delA	p.K616fs	HLIAHRRTHTGEKPYRCNECGKAFN	HLIAHRRTHTGENHTGVMNVGKHLMRVHPLLYT	7.0	6.0	-	-	4284_19:58489930-58489930 T>-_HLIAHRRTHTGENHTGVMNVGKHLMRVHPLLYT
11:67810301-67810301 G>A	1.0	4284	COLORECTAL	-	-	-	-	TCIRG1	ENST00000265686,p.A130T|uc001onf.1,p.A130T|ENST00000524598,p.A116T|uc001one.3,p.A130T|ENST00000534673,p.A130T|NM_006019,p.A130T|ENST00000529657,p.A130T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001onf.1	nonsynonymous SNV	exon4	c.G388A	p.A130T	LRAQLHQLQLHAAVLRQGHEPQLAA	LRAQLHQLQLHATVLRQGHEPQLAA	9.0	5.0	-	-	4284_11:67810301-67810301 G>A_LRAQLHQLQLHATVLRQGHEPQLAA
7:30496447-30496447 C>A	1.0	4284	COLORECTAL	-	-	-	-	NOD1	ENST00000434755,p.V31F|uc003tav.3,p.V31F|uc010kvs.2,p.V31F|ENST00000419799,p.V31F|ENST00000411552,p.V31F|ENST00000222823,p.V31F|ENST00000419601,p.V31F|ENST00000413433,p.V31F|NM_006092,p.V31F|ENST00000423334,p.V31F	retained_intron, protein_coding, nonsense_mediated_decay	uc010kvs.2	nonsynonymous SNV	exon4	c.G91T	p.V31F	HIQLLKSNRELLVTHIRNTQCLVDN	HIQLLKSNRELLFTHIRNTQCLVDN	6.0	1.0	-	-	4284_7:30496447-30496447 C>A_HIQLLKSNRELLFTHIRNTQCLVDN
5:172517319-172517330 ATAGAGAGATGA>-	1.0	4284	COLORECTAL	-	-	-	-	CREBRF	uc003mcf.3,p.46_50del|ENST00000522692,p.46_50del|ENST00000520420,p.46_50del|ENST00000296953,p.46_50del|NM_001168393,p.46_50del|uc003mcg.3,p.46_50del|uc003mch.3,p.46_50del|uc011dfd.1,p.46_50del|ENST00000540014,p.46_50del|NM_001168394,p.46_50del|NM_153607,p.46_50del	retained_intron, protein_coding, processed_transcript	uc011dfd.1	nonframeshift deletion	exon4	c.137_148del	p.46_50del	ANSSDPDFMYELDREMNYQQNPRDN	ANSSDPDFMYELDYQQNPRDNFLSL	8.0	2.0	-	-	4284_5:172517319-172517330 ATAGAGAGATGA>-_ANSSDPDFMYELDYQQNPRDNFLSL
3:120489701-120489701 G>A	1.0	4284	COLORECTAL	-	-	-	-	GTF2E1	ENST00000469772,p.R25Q|uc003edz.4,p.R192Q|ENST00000283875,p.R192Q|NM_005513,p.R192Q	retained_intron, protein_coding	uc003edz.4	nonsynonymous SNV	exon3	c.G575A	p.R192Q	FNEQIEPIYALLRETEDVNLAYEIL	FNEQIEPIYALLQETEDVNLAYEIL	9.0	5.0	-	-	4284_3:120489701-120489701 G>A_FNEQIEPIYALLQETEDVNLAYEIL
13:114774921-114774921 T>A	1.0	4284	COLORECTAL	-	-	-	-	RASA3	ENST00000334062,p.Y537F|uc001vuj.3,p.Y154F|ENST00000389544,p.Y505F|uc010tkk.2,p.Y505F|NM_007368,p.Y537F|uc001vui.3,p.Y537F	protein_coding	uc010tkk.2	nonsynonymous SNV	exon17	c.A1514T	p.Y505F	LSKSKSASFKESYMATFYEFFNEQK	LSKSKSASFKESFMATFYEFFNEQK	8.0	4.0	-	-	4284_13:114774921-114774921 T>A_LSKSKSASFKESFMATFYEFFNEQK
16:31072663-31072663 G>A	1.0	4284	COLORECTAL	-	-	-	-	ZNF668	uc010caf.3,p.T529M|ENST00000539836,p.T552M|NM_001172668,p.T529M|NM_001172669,p.T552M|ENST00000535577,p.T529M|NM_001172670,p.T529M|ENST00000394983,p.T529M|uc010cag.2,p.T529M|NM_024706,p.T529M|ENST00000426488,p.T552M|uc002eao.3,p.T529M|ENST00000300849,p.T529M|uc021tgt.1,p.T552M|ENST00000538906,p.T529M	protein_coding, processed_transcript	uc021tgt.1	nonsynonymous SNV	exon4	c.C1655T	p.T552M	VCRECKETFSTMTLLRRHERSHPEL	VCRECKETFSTMMLLRRHERSHPEL	6.0	7.0	-	-	4284_16:31072663-31072663 G>A_VCRECKETFSTMMLLRRHERSHPEL
1:145296413-145296413 A>C	1.0	4284	COLORECTAL	-	-	-	-	NBPF10	NM_001039703,p.K112T|uc021oul.2,p.K112T|uc031poc.1,p.K112T|ENST00000342960,p.K112T|uc021ouk.1,p.K112T|ENST00000490598,p.K112T	protein_coding, processed_transcript	uc031poc.1	nonsynonymous SNV	exon3	c.A335C	p.K112T	HSQERELTQLREKLREGRDASRSLY	HSQERELTQLRETLREGRDASRSLY	10.0	3.0	-	-	4284_1:145296413-145296413 A>C_HSQERELTQLRETLREGRDASRSLY
13:114762201-114762201 G>C	1.0	4284	COLORECTAL	-	-	-	-	RASA3	ENST00000334062,p.I649M|ENST00000389544,p.I617M|uc001vuj.3,p.I266M|uc001vui.3,p.I649M|NM_007368,p.I649M|uc010tkk.2,p.I617M	protein_coding	uc010tkk.2	nonsynonymous SNV	exon21	c.C1851G	p.I617M	EESFKMKNMFQVIQPERALYIQANN	EESFKMKNMFQVMQPERALYIQANN	8.0	6.0	-	-	4284_13:114762201-114762201 G>C_EESFKMKNMFQVMQPERALYIQANN
2:29011586-29011586 G>T	1.0	4284	COLORECTAL	-	-	-	-	PPP1CB	ENST00000358506,p.D219Y|uc002rmh.3,p.D219Y|uc010yml.2,p.D191Y|NM_206876,p.D219Y|uc010ymj.2,p.D191Y|NM_002709,p.D219Y|ENST00000296122,p.D219Y|uc002rmg.3,p.D219Y|ENST00000395366,p.D219Y	retained_intron, protein_coding, nonsense_mediated_decay	uc010yml.2	nonsynonymous SNV	exon6	c.G571T	p.D191Y	DPDKDVQGWGENDRGVSFTFGADVV	DPDKDVQGWGENYRGVSFTFGADVV	10.0	3.0	-	-	4284_2:29011586-29011586 G>T_DPDKDVQGWGENYRGVSFTFGADVV
2:135160649-135160649 G>A	1.0	4284	COLORECTAL	-	-	-	-	MGAT5	NM_002410,p.V491M|uc002ttw.4,p.V491M|ENST00000281923,p.V491M|ENST00000409645,p.V491M	protein_coding, processed_transcript	uc002ttw.4	nonsynonymous SNV	exon11	c.G1471A	p.V491M	VYGSSTKNIPSYVKNHGILSGRDLQ	VYGSSTKNIPSYMKNHGILSGRDLQ	10.0	7.0	-	-	4284_2:135160649-135160649 G>A_VYGSSTKNIPSYMKNHGILSGRDLQ
2:86373261-86373261 T>G	1.0	4284	COLORECTAL	-	-	-	-	IMMT	uc010yte.2,p.Q484H|NM_001100169,p.Q530H|uc002sqz.4,p.Q531H|ENST00000449247,p.Q520H|uc002sra.4,p.Q530H|NM_006839,p.Q531H|ENST00000410111,p.Q531H|uc002srb.4,p.Q520H|ENST00000254636,p.Q432H|uc002sqy.4,p.Q272H|ENST00000409051,p.Q484H|uc002src.1,p.Q267H|uc010ytd.2,p.Q519H|ENST00000442664,p.Q530H|NM_001100170,p.Q520H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yte.2	nonsynonymous SNV	exon13	c.A1452C	p.Q484H	EQELQFRRLSQEQVDNFTLDINTAY	EQELQFRRLSQEHVDNFTLDINTAY	10.0	2.0	-	-	4284_2:86373261-86373261 T>G_EQELQFRRLSQEHVDNFTLDINTAY
7:34097674-34097674 G>A	1.0	4284	COLORECTAL	-	-	-	-	BMPER	uc011kap.2,p.G311R|NM_133468,p.G311R|ENST00000297161,p.G311R|ENST00000426693,p.G311R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kap.2	nonsynonymous SNV	exon11	c.G931A	p.G311R	KVCKFGNKIFQDGEMWSSINCTICA	KVCKFGNKIFQDREMWSSINCTICA	5.0	5.0	-	-	4284_7:34097674-34097674 G>A_KVCKFGNKIFQDREMWSSINCTICA
19:19737867-19737867 G>A	1.0	4284	COLORECTAL	-	-	-	-	LPAR2	ENST00000407877,p.A76V|ENST00000542587,p.A76V|NM_004720,p.A76V|uc002nnc.4,p.A76V|uc002nna.4,p.A76V|uc002nnb.4,p.A76V|ENST00000586703,p.A76V	retained_intron, protein_coding, processed_transcript	uc002nnc.4	nonsynonymous SNV	exon5	c.C227T	p.A76V	HQPIYYLLGNLAAADLFAGVAYLFL	HQPIYYLLGNLAVADLFAGVAYLFL	6.0	3.0	-	-	4284_19:19737867-19737867 G>A_HQPIYYLLGNLAVADLFAGVAYLFL
8:142264131-142264139 GTAACAGAA>-	1.0	4284	COLORECTAL	-	-	-	-	SLC45A4	ENST00000517878,p.64_66del|NM_001286646,p.64_66del	protein_coding, processed_transcript	NM_001286646	nonframeshift deletion	exon1	c.190_198del	p.64_66del	WVMHGAVMFGREFCYAMETALVTPI	WVMHGAVMFGREAMETALVTPILLQ	7.0	6.0	-	-	4284_8:142264131-142264139 GTAACAGAA>-_WVMHGAVMFGREAMETALVTPILLQ
5:112175270-112175294 TCACAGCACCCTAGAACCAAATCCA>-	0.0	4284	COLORECTAL	-	-	-	1	APC	uc003kpz.4,p.S1327fs|uc010jca.3,p.S627fs|NM_001127511,p.S1309fs|ENST00000508376,p.S1327fs|ENST00000457016,p.S1327fs|ENST00000257430,p.S1327fs|uc003kpy.4,p.S1327fs|uc010jbz.3,p.S1044fs|NM_001127510,p.S1327fs|NM_000038,p.S1327fs|uc011cvt.2,p.S1309fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cvt.2	frameshift deletion	exon14	c.3925_3949del	p.S1309fs	SAEDPVSEVPAVSQHPRTKSSRLQG	SAEDPVSEVPAVADCRVLVYLQNQPGTKLLNFLQERNLPPKVVLRHPKVHLNTMFRRPHSCLADVLLSVHLIVLRVVRLPAPFRVNHAVEW	9.0	10.0	-	-	4284_5:112175270-112175294 TCACAGCACCCTAGAACCAAATCCA>-_SAEDPVSEVPAVADCRVLVYLQNQPGTKLLNFLQERNLPPKVVLRHPKVHLNTMFRRPHSCLADVLLSVHLIVLRVVRLPAPFRVNHAVEW
1:117122181-117122181 T>C	1.0	4284	COLORECTAL	-	-	-	-	IGSF3	ENST00000369486,p.Q1056R|NM_001542,p.Q1076R|uc031pnr.1,p.Q1076R|ENST00000318837,p.Q1076R|NM_001007237,p.Q1056R|uc001egr.2,p.Q1056R|ENST00000369483,p.Q1076R	protein_coding, processed_transcript	uc031pnr.1	nonsynonymous SNV	exon10	c.A3227G	p.Q1076R	PEGSPWEGRLRFQRLSPVLYRLTVL	PEGSPWEGRLRFRRLSPVLYRLTVL	7.0	4.0	-	-	4284_1:117122181-117122181 T>C_PEGSPWEGRLRFRRLSPVLYRLTVL
7:100643959-100643959 C>T	1.0	4284	COLORECTAL	-	-	ID=COSM3831410,COSM3831409;OCCURENCE=1(breast)	-	MUC12	ENST00000379442,p.T3515I|NM_001164462,p.T3372I|uc003uxo.3,p.T3372I|ENST00000536621,p.T3372I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.C10115T	p.T3372I	STTHTISSAPSTTSALVEEPTSYHS	STTHTISSAPSTISALVEEPTSYHS	10.0	2.0	unscreened	-	4284_7:100643959-100643959 C>T_STTHTISSAPSTISALVEEPTSYHS
11:62598584-62598584 ->G	1.0	4284	COLORECTAL	-	-	ID=COSM112032;OCCURENCE=1(ovary),4(large_intestine)	-	STX5	uc001nvh.3,p.P44fs|NM_001244666,p.P44fs|NM_003164,p.P44fs|uc010rmj.2,p.P44fs	-	uc010rmj.2	frameshift insertion	exon2	c.131dupC	p.P44fs	GSSSSDIAPLPPPVTLVPPPPDTMS	GSSSSDIAPLPPPSDPRPSPSRHHVLPGSDPGVSVCLQVAADPSEWNPDK	9.0	7.0	-	-	4284_11:62598584-62598584 ->G_GSSSSDIAPLPPPSDPRPSPSRHHVLPGSDPGVSVCLQVAADPSEWNPDK
17:48753296-48753296 C>T	1.0	4284	COLORECTAL	-	-	-	-	ABCC3	ENST00000505699,p.T971M|ENST00000285238,p.T971M|uc002isl.3,p.T971M|NM_003786,p.T971M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002isl.3	nonsynonymous SNV	exon22	c.C2912T	p.T971M	FWDYAKAVGLCTTLAICLLYVGQSA	FWDYAKAVGLCTMLAICLLYVGQSA	9.0	5.0	-	-	4284_17:48753296-48753296 C>T_FWDYAKAVGLCTMLAICLLYVGQSA
12:54118980-54118988 TTGACTCCA>-	1.0	4284	COLORECTAL	-	-	-	-	CALCOCO1	ENST00000548263,p.13_16del|NM_020898,p.13_16del|ENST00000550804,p.13_16del|ENST00000552623,p.13_16del|uc010som.2,p.13_16del|uc010soo.1,p.13_16del|ENST00000430117,p.13_16del|NM_001143682,p.13_16del|ENST00000262059,p.13_16del|uc001seh.2,p.13_16del|uc009znd.3,p.13_16del|uc001sef.3,p.13_16del	retained_intron, protein_coding, processed_transcript	uc010soo.1	nonframeshift deletion	exon2	c.39_47del	p.13_16del	MEESPLSRAPSRGGVNFLNVARTYI	MEESPLSRAPSRGFLNVARTYIPNT	9.0	4.0	-	-	4284_12:54118980-54118988 TTGACTCCA>-_MEESPLSRAPSRGFLNVARTYIPNT
8:122626929-122626929 C>T	1.0	4284	COLORECTAL	-	-	-	-	HAS2	uc003yph.2,p.R360Q|ENST00000303924,p.R360Q|NM_005328,p.R360Q	protein_coding	uc003yph.2	nonsynonymous SNV	exon4	c.G1079A	p.R360Q	LNQQTRWSKSYFREWLYNAMWFHKH	LNQQTRWSKSYFQEWLYNAMWFHKH	5.0	9.0	-	-	4284_8:122626929-122626929 C>T_LNQQTRWSKSYFQEWLYNAMWFHKH
16:3487308-3487308 C>T	1.0	4284	COLORECTAL	-	-	-	-	ZNF597	uc002cvd.3,p.E131K|NM_152457,p.E131K|ENST00000301744,p.E131K	protein_coding	uc002cvd.3	nonsynonymous SNV	exon4	c.G391A	p.E131K	LLVTIENHTPLVELSEYLGTNTLSE	LLVTIENHTPLVKLSEYLGTNTLSE	5.0	8.0	-	-	4284_16:3487308-3487308 C>T_LLVTIENHTPLVKLSEYLGTNTLSE
10:121674308-121674308 G>A	1.0	4284	COLORECTAL	-	-	-	-	SEC23IP	ENST00000446561,p.R164H|ENST00000543134,p.R249H|uc001leu.2,p.R460H|NM_007190,p.R460H|uc010qtc.2,p.R249H|ENST00000369075,p.R460H	protein_coding, processed_transcript	uc010qtc.2	nonsynonymous SNV	exon6	c.G746A	p.R249H	FVVHGIGPVCDLRFRSIIECVDDFR	FVVHGIGPVCDLHFRSIIECVDDFR	9.0	5.0	-	-	4284_10:121674308-121674308 G>A_FVVHGIGPVCDLHFRSIIECVDDFR
2:238664814-238664814 G>T	1.0	4284	COLORECTAL	-	-	-	-	LRRFIP1	NM_001137550,p.R372I|ENST00000308482,p.R372I|uc002vxc.3,p.R372I	retained_intron, protein_coding, processed_transcript	uc002vxc.3	nonsynonymous SNV	exon16	c.G1115T	p.R372I	FQFAEVKEALKQREEMLEEIRQLQQ	FQFAEVKEALKQIEEMLEEIRQLQQ	10.0	10.0	-	-	4284_2:238664814-238664814 G>T_FQFAEVKEALKQIEEMLEEIRQLQQ
13:58206909-58206909 G>A	0.0	4284	COLORECTAL	-	-	-	-	PCDH17	ENST00000377918,p.V77M|NM_001040429,p.V77M|ENST00000484979,p.V77M|uc010aec.1,p.V77M|uc001vhq.1,p.V77M	protein_coding, nonsense_mediated_decay	uc010aec.1	nonsynonymous SNV	exon1	c.G229A	p.V77M	RVLENSAPHLLDVDADSGLLYTKQR	RVLENSAPHLLDMDADSGLLYTKQR	7.0	2.0	-	-	4284_13:58206909-58206909 G>A_RVLENSAPHLLDMDADSGLLYTKQR
2:238664814-238664814 G>T	1.0	4284	COLORECTAL	-	-	-	-	LRRFIP1	ENST00000392000,p.R244I|uc002vxf.3,p.R188I|ENST00000244815,p.R220I|uc010znm.2,p.R188I|uc002vxe.3,p.R244I|ENST00000289175,p.R188I|NM_004735,p.R220I|NM_001137553,p.R188I|uc002vxd.3,p.R220I|NM_001137551,p.R188I|NM_001137552,p.R244I	retained_intron, protein_coding, processed_transcript	uc010znm.2	nonsynonymous SNV	exon6	c.G563T	p.R188I	FQFAEVKEALKQREEMLEKHGIILN	FQFAEVKEALKQIEEMLEKHGIILN	10.0	10.0	-	-	4284_2:238664814-238664814 G>T_FQFAEVKEALKQIEEMLEKHGIILN
2:1161295-1161295 C>T	1.0	4284	COLORECTAL	0.01	rs61744692	ID=COSM441027;OCCURENCE=1(breast)	-	SNTG2	uc002qwq.3,p.A158V|NM_018968,p.A158V|ENST00000308624,p.A158V	protein_coding, processed_transcript, nonsense_mediated_decay	uc002qwq.3	nonsynonymous SNV	exon7	c.C473T	p.A158V	DEVTITVEYLREAPAFLKLPLGSPG	DEVTITVEYLREVPAFLKLPLGSPG	2.0	10.0	-	-	4284_2:1161295-1161295 C>T_DEVTITVEYLREVPAFLKLPLGSPG
4:11401124-11401124 T>C	1.0	4284	COLORECTAL	-	-	-	-	HS3ST1	uc003gmq.3,p.K169R|NM_005114,p.K169R|uc021xmg.1,p.K169R|ENST00000002596,p.K169R	protein_coding	uc021xmg.1	nonsynonymous SNV	exon1	c.A506G	p.K169R	YTQVFYNHMQKHKPYPSIEEFLVRD	YTQVFYNHMQKHRPYPSIEEFLVRD	5.0	6.0	-	-	4284_4:11401124-11401124 T>C_YTQVFYNHMQKHRPYPSIEEFLVRD
7:100644090-100644090 G>A	1.0	4284	COLORECTAL	-	rs149265838	-	-	MUC12	NM_001164462,p.A3416T|uc003uxo.3,p.A3416T|ENST00000379442,p.A3559T|ENST00000536621,p.A3416T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.G10246A	p.A3416T	SEESTASHSSQDATGTIVLPARSTT	SEESTASHSSQDTTGTIVLPARSTT	10.0	3.0	unscreened	-	4284_7:100644090-100644090 G>A_SEESTASHSSQDTTGTIVLPARSTT
8:99045884-99045884 C>T	1.0	4284	COLORECTAL	-	-	-	-	MATN2	ENST00000254898,p.R938C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000254898	nonsynonymous SNV	exon18	c.C2812T	p.R938C	NLANEEVRKLTQRLLEEMTQRMEAL	NLANEEVRKLTQCLLEEMTQRMEAL	7.0	9.0	unscreened	-	4284_8:99045884-99045884 C>T_NLANEEVRKLTQCLLEEMTQRMEAL
6:42828015-42828015 A>T	1.0	4284	COLORECTAL	-	-	-	-	GLTSCR1L	uc011duw.1,p.E757V|ENST00000394168,p.E757V|uc003osn.1,p.E757V|ENST00000314073,p.E757V|uc003osp.1,p.E757V|NM_015349,p.E757V	protein_coding	uc011duw.1	nonsynonymous SNV	exon10	c.A2270T	p.E757V	TEEDLRKVDNEFETVATQLLKRTQA	TEEDLRKVDNEFVTVATQLLKRTQA	7.0	5.0	-	-	4284_6:42828015-42828015 A>T_TEEDLRKVDNEFVTVATQLLKRTQA
6:153292449-153292449 C>T	1.0	4284	COLORECTAL	-	-	-	-	FBXO5	uc003qph.3,p.R352Q|uc003qpg.3,p.R398Q|ENST00000229758,p.R398Q|ENST00000367241,p.R352Q|NM_012177,p.R398Q|NM_001142522,p.R352Q	protein_coding, processed_transcript	uc003qph.3	nonsynonymous SNV	exon5	c.G1055A	p.R352Q	KYDCYLQRATCKREGCGFDYCTKCL	KYDCYLQRATCKQEGCGFDYCTKCL	6.0	4.0	-	-	4284_6:153292449-153292449 C>T_KYDCYLQRATCKQEGCGFDYCTKCL
3:195615440-195615440 G>A	1.0	4284	COLORECTAL	-	-	-	-	TNK2	uc003fvt.1,p.T70I|ENST00000428187,p.T39I|uc010hzx.1,p.T21I|ENST00000381916,p.T70I|uc003fvs.1,p.T39I|NM_001010938,p.T70I|ENST00000427576,p.T71I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hzx.1	nonsynonymous SNV	exon2	c.C62T	p.T21I	RLGGGRMQPEEGTGWLLELLSEVQL	RLGGGRMQPEEGIGWLLELLSEVQL	8.0	10.0	-	-	4284_3:195615440-195615440 G>A_RLGGGRMQPEEGIGWLLELLSEVQL
10:49459678-49459678 G>T	0.0	4284	COLORECTAL	-	-	-	-	FRMPD2	uc001jgi.3,p.L28M|uc001jgj.3,p.L19M|ENST00000407470,p.L19M|ENST00000305531,p.L26M|NM_001018071,p.L28M|ENST00000374201,p.L28M|uc001jgh.3,p.L19M	retained_intron, protein_coding, processed_transcript	uc001jgj.3	nonsynonymous SNV	exon2	c.C55A	p.L19M	TLASALQVRGEALSEEEIWSLLFLA	TLASALQVRGEAMSEEEIWSLLFLA	7.0	8.0	-	-	4284_10:49459678-49459678 G>T_TLASALQVRGEAMSEEEIWSLLFLA
2:203847102-203847102 G>A	1.0	4284	COLORECTAL	-	-	-	-	CARF	ENST00000545253,p.R578Q|ENST00000438828,p.R666Q|uc002uzp.2,p.R666Q|NM_001282912,p.R578Q|NM_001282911,p.R590Q|uc002uzo.2,p.R666Q|ENST00000402905,p.R666Q|uc010zia.1,p.R590Q|ENST00000414439,p.R564Q|uc010zic.1,p.R578Q|NM_001282910,p.R590Q|ENST00000428585,p.R590Q|NM_001104586,p.R666Q|ENST00000320443,p.R666Q|ENST00000545262,p.R590Q|uc010zib.1,p.R590Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zic.1	nonsynonymous SNV	exon13	c.G1733A	p.R578Q	VEDTGNLEGTVHRILLGDVQTIPIQ	VEDTGNLEGTVHQILLGDVQTIPIQ	7.0	2.0	-	-	4284_2:203847102-203847102 G>A_VEDTGNLEGTVHQILLGDVQTIPIQ
9:117936-117936 C>T	1.0	4284	COLORECTAL	-	-	-	-	FOXD4	uc003zfz.4,p.G62R|ENST00000382500,p.G62R|NM_207305,p.G62R	protein_coding	uc003zfz.4	nonsynonymous SNV	exon1	c.G184A	p.G62R	SLQPGLQVARWGGVALPREHIEGGG	SLQPGLQVARWGRVALPREHIEGGG	6.0	9.0	-	-	4284_9:117936-117936 C>T_SLQPGLQVARWGRVALPREHIEGGG
2:37475281-37475281 C>A	1.0	4284	COLORECTAL	-	-	-	-	NDUFAF7	NM_001083946,p.L274I|ENST00000336237,p.L274I|uc010ynk.2,p.L301I|uc002rqc.4,p.L274I|uc010ynl.2,p.L345I|uc002rqa.4,p.L372I|NM_144736,p.L372I|ENST00000002125,p.L372I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ynl.2	nonsynonymous SNV	exon9	c.C1033A	p.L345I	LKNMGIDVRLKVLLDKSNEPSVRQQ	LKNMGIDVRLKVILDKSNEPSVRQQ	9.0	1.0	-	-	4284_2:37475281-37475281 C>A_LKNMGIDVRLKVILDKSNEPSVRQQ
10:75234724-75234724 T>G	1.0	4284	COLORECTAL	-	-	-	-	PPP3CB	uc001juh.2,p.N73T|NM_001289969,p.N73T|NM_001289968,p.N177T|NM_001142353,p.N159T|ENST00000394829,p.N159T|uc001jui.2,p.N177T|ENST00000394822,p.N177T|NM_001142354,p.N159T|ENST00000360663,p.N159T|ENST00000545874,p.N73T|ENST00000394828,p.N159T|NM_021132,p.N159T|ENST00000342558,p.N159T|uc001jue.3,p.N159T|uc001juf.3,p.N159T|uc001jug.3,p.N159T	protein_coding, processed_transcript	uc001jui.2	nonsynonymous SNV	exon5	c.A530C	p.N177T	ILYPSTLFLLRGNHECRHLTEYFTF	ILYPSTLFLLRGTHECRHLTEYFTF	8.0	3.0	-	-	4284_10:75234724-75234724 T>G_ILYPSTLFLLRGTHECRHLTEYFTF
3:195511897-195511897 G>T	1.0	4284	COLORECTAL	-	-	-	2	MUC4	ENST00000480843,p.A2185E|ENST00000477756,p.A2185E|ENST00000479406,p.A2185E|uc021xjp.1,p.A2185E|ENST00000470451,p.A2185E|ENST00000463781,p.A2185E|ENST00000466475,p.A2185E|ENST00000475231,p.A2185E|ENST00000462323,p.A2185E|ENST00000477086,p.A2185E|ENST00000478156,p.A2185E|NM_018406,p.A2185E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C6554A	p.A2185E	HATSLPVTDTSSASTGHATPLPVTD	HATSLPVTDTSSESTGHATPLPVTD	7.0	1.0	unscreened	-	4284_3:195511897-195511897 G>T_HATSLPVTDTSSESTGHATPLPVTD
5:57752877-57752877 C>G	0.0	4284	COLORECTAL	-	-	-	-	PLK2	NM_006622,p.V351L|NM_001252226,p.V337L|uc003jrn.3,p.V351L|uc021xyx.1,p.V337L|ENST00000274289,p.V351L	retained_intron, protein_coding, processed_transcript	uc021xyx.1	nonsynonymous SNV	exon9	c.G1009C	p.V337L	TPDRLSSSCCHTVPDFHLSSPAKNF	TPDRLSSSCCHTLPDFHLSSPAKNF	9.0	1.0	-	-	4284_5:57752877-57752877 C>G_TPDRLSSSCCHTLPDFHLSSPAKNF
2:238274357-238274357 G>A	0.0	4284	COLORECTAL	-	-	ID=COSM3391594;OCCURENCE=1(pancreas)	-	COL6A3	ENST00000409809,p.S1735L|uc002vwo.2,p.S1735L|ENST00000347401,p.S1740L|uc010znj.1,p.S1334L|uc002vwl.2,p.S1941L|NM_057166,p.S1334L|ENST00000353578,p.S1735L|ENST00000346358,p.S1741L|ENST00000295550,p.S1941L|ENST00000472056,p.S1334L|NM_057167,p.S1735L|NM_004369,p.S1941L	retained_intron, protein_coding, processed_transcript	uc010znj.1	nonsynonymous SNV	exon9	c.C4001T	p.S1334L	TLKVYLNKFRQSSPDSVKVVIHFTD	TLKVYLNKFRQSLPDSVKVVIHFTD	10.0	8.0	-	-	4284_2:238274357-238274357 G>A_TLKVYLNKFRQSLPDSVKVVIHFTD
1:154842199-154842199 ->GCTGCTGCTGCTGCT	1.0	4284	COLORECTAL	-	-	ID=COSM3685920;OCCURENCE=1(large_intestine)	-	KCNN3	uc001ffp.3,p.P81delinsQQQQQP|ENST00000271915,p.P81delinsQQQQQP|uc021pah.1,p.P81delinsQQQQQP|NM_001204087,p.P81delinsQQQQQP|uc009wox.1,p.P81delinsQQQQQP|NM_002249,p.P81delinsQQQQQP	protein_coding	uc021pah.1	nonframeshift insertion	exon1	c.241_242insAGCAGCAGCAGCAGC	p.P81delinsQQQQQP	QQQQQQQQQQQQPPHPLSQLAQLQS	QQQQQQQQQQQQQQQQQPPHPLSQL	7.0	3.0	unscreened	-	4284_1:154842199-154842199 ->GCTGCTGCTGCTGCT_QQQQQQQQQQQQQQQQQPPHPLSQL
2:75425861-75425861 G>A	1.0	4284	COLORECTAL	-	-	-	-	TACR1	NM_015727,p.T67M|uc002sng.2,p.T67M|ENST00000305249,p.T67M|uc002snh.3,p.T67M|NM_001058,p.T67M|ENST00000409848,p.T67M	protein_coding, processed_transcript	uc002snh.3	nonsynonymous SNV	exon1	c.C200T	p.T67M	WIILAHKRMRTVTNYFLVNLAFAEA	WIILAHKRMRTVMNYFLVNLAFAEA	4.0	10.0	-	-	4284_2:75425861-75425861 G>A_WIILAHKRMRTVMNYFLVNLAFAEA
15:77344798-77344798 G>C	1.0	4284	COLORECTAL	-	-	-	-	TSPAN3	NM_001168412,p.L136V|ENST00000424443,p.L136V|uc002bcj.3,p.L200V|ENST00000559494,p.L111V|uc002bck.3,p.L175V|NM_005724,p.L200V|NM_198902,p.L175V|ENST00000267970,p.L200V|ENST00000346495,p.L175V|uc010ump.2,p.L136V	retained_intron, protein_coding, processed_transcript	uc010ump.2	nonsynonymous SNV	exon5	c.C406G	p.L136V	HPSDLYAEGCEALVVKKLQEIMMHV	HPSDLYAEGCEAVVVKKLQEIMMHV	10.0	4.0	-	-	4284_15:77344798-77344798 G>C_HPSDLYAEGCEAVVVKKLQEIMMHV
13:52598876-52598876 T>A	1.0	4284	COLORECTAL	-	-	-	-	ALG11	ENST00000521508,p.L337H|uc001vga.3,p.L337H|NM_001004127,p.L337H	protein_coding, processed_transcript	uc001vga.3	nonsynonymous SNV	exon3	c.T1010A	p.L337H	LLNKKMVESPPSLKLVLIGGCRNKD	LLNKKMVESPPSHKLVLIGGCRNKD	9.0	2.0	-	-	4284_13:52598876-52598876 T>A_LLNKKMVESPPSHKLVLIGGCRNKD
8:99045884-99045884 C>T	1.0	4284	COLORECTAL	-	-	-	-	MATN2	NM_002380,p.R938C|uc003yic.3,p.R938C|ENST00000522025,p.R654C|ENST00000520016,p.R938C|ENST00000521689,p.R919C|NM_030583,p.R919C|ENST00000524308,p.R897C|uc003yid.3,p.R919C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003yid.3	nonsynonymous SNV	exon18	c.C2755T	p.R919C	NLANEEVRKLTQRLEEMTQRMEALE	NLANEEVRKLTQCLEEMTQRMEALE	7.0	9.0	-	-	4284_8:99045884-99045884 C>T_NLANEEVRKLTQCLEEMTQRMEALE
9:114345825-114345825 C>A	1.0	4284	COLORECTAL	-	-	-	-	PTGR1	uc010mue.3,p.G141V|NM_001146109,p.G141V|ENST00000238248,p.G18V|uc004bfj.3,p.G18V|ENST00000538962,p.G141V|NM_012212,p.G141V|NM_001146108,p.G141V|ENST00000407693,p.G141V|ENST00000309195,p.G141V|uc004bfh.2,p.G141V|uc011lwr.2,p.G141V|uc004bfi.3,p.G141V	retained_intron, protein_coding, nonsense_mediated_decay	uc011lwr.2	nonsynonymous SNV	exon6	c.G422T	p.G141V	AYFGLLEICGVKGGETVMVNAAAGA	AYFGLLEICGVKVGETVMVNAAAGA	8.0	6.0	-	-	4284_9:114345825-114345825 C>A_AYFGLLEICGVKVGETVMVNAAAGA
12:12974979-12974979 G>A	1.0	4284	COLORECTAL	-	-	-	-	DDX47	ENST00000352940,p.E175K|ENST00000544400,p.E112K|ENST00000358007,p.E175K|uc001rax.3,p.E175K|uc009zhw.1,p.E175K|uc001rav.3,p.E175K|NM_201224,p.E175K|uc001ray.3,p.E175K|NM_016355,p.E175K	retained_intron, protein_coding, processed_transcript	uc009zhw.1	nonsynonymous SNV	exon5	c.G523A	p.E175K	FNLRALKYLVMDEADRILNMDFETE	FNLRALKYLVMDKADRILNMDFETE	10.0	4.0	-	-	4284_12:12974979-12974979 G>A_FNLRALKYLVMDKADRILNMDFETE
10:135352327-135352327 G>T	0.0	4284	COLORECTAL	-	-	-	-	CYP2E1	uc001lnk.1,p.L310F|uc001lnj.1,p.L447F|ENST00000252945,p.L447F|NM_000773,p.L447F|uc009ybl.1,p.L248F|ENST00000463117,p.L447F|uc009ybm.1,p.L101F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009ybm.1	nonsynonymous SNV	exon6	c.G303T	p.L101F	RVCAGEGLARMELFLLLCAILQHFN	RVCAGEGLARMEFFLLLCAILQHFN	4.0	10.0	CD8	-	4284_10:135352327-135352327 G>T_RVCAGEGLARMEFFLLLCAILQHFN
3:195507205-195507205 C>A	1.0	4284	COLORECTAL	-	-	-	2	MUC4	ENST00000470451,p.S3749I|ENST00000466475,p.S3749I|ENST00000480843,p.S3749I|NM_018406,p.S3749I|ENST00000477756,p.S3749I|ENST00000479406,p.S3749I|ENST00000463781,p.S3749I|ENST00000462323,p.S3749I|ENST00000477086,p.S3749I|ENST00000478156,p.S3749I|ENST00000475231,p.S3749I|uc021xjp.1,p.S3749I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G11246T	p.S3749I	ASTGHVTPLPVTSTSSASTGHATPL	ASTGHVTPLPVTITSSASTGHATPL	7.0	1.0	unscreened	-	4284_3:195507205-195507205 C>A_ASTGHVTPLPVTITSSASTGHATPL
22:42296477-42296477 C>T	1.0	4284	COLORECTAL	-	-	-	-	SREBF2	ENST00000361204,p.A961V|uc003bbi.3,p.A961V|NM_004599,p.A961V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003bbi.3	nonsynonymous SNV	exon16	c.C2882T	p.A961V	SGHLWSSLNVSGATSDPALNHVVQL	SGHLWSSLNVSGVTSDPALNHVVQL	10.0	5.0	-	-	4284_22:42296477-42296477 C>T_SGHLWSSLNVSGVTSDPALNHVVQL
8:43052874-43052874 C>G	1.0	4284	COLORECTAL	-	-	-	-	HGSNAT	ENST00000379644,p.N534K|NM_152419,p.N534K|ENST00000521576,p.N251K|ENST00000297798,p.N266K|uc003xpx.4,p.N534K|ENST00000458501,p.N562K	retained_intron, protein_coding, nonsense_mediated_decay	uc003xpx.4	nonsynonymous SNV	exon16	c.C1602G	p.N534K	TKVSENEGFIPVNKNLWSLSYVTTL	TKVSENEGFIPVKKNLWSLSYVTTL	8.0	3.0	-	-	4284_8:43052874-43052874 C>G_TKVSENEGFIPVKKNLWSLSYVTTL
17:74086418-74086418 G>A	1.0	4284	COLORECTAL	-	-	-	-	EXOC7	ENST00000411744,p.P290L|NM_001145297,p.P349L|uc010wsx.2,p.P290L|ENST00000607838,p.P321L|ENST00000335146,p.P349L|uc010wsw.2,p.P321L|ENST00000405575,p.P321L|NM_001145298,p.P290L|uc002jqs.3,p.P349L|NM_001145299,p.P321L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wsx.2	nonsynonymous SNV	exon7	c.C869T	p.P290L	KHLSEALNDKHGPLAGRDDMLDVET	KHLSEALNDKHGLLAGRDDMLDVET	9.0	10.0	-	-	4284_17:74086418-74086418 G>A_KHLSEALNDKHGLLAGRDDMLDVET
6:158094126-158094126 G>A	1.0	4284	COLORECTAL	-	-	ID=COSM3697632;OCCURENCE=1(large_intestine)	-	ZDHHC14	uc003qqs.3,p.R465H|uc010kjn.3,p.R135H|NM_024630,p.R480H|NM_153746,p.R465H|ENST00000414563,p.R465H|ENST00000359775,p.R480H|uc003qqt.3,p.R480H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kjn.3	nonsynonymous SNV	exon5	c.G404A	p.R135H	LASQDSLHEDSVRGLVKLSSV	LASQDSLHEDSVHGLVKLSSV	6.0	9.0	-	-	4284_6:158094126-158094126 G>A_LASQDSLHEDSVHGLVKLSSV
6:146126504-146126504 ->A	1.0	4284	COLORECTAL	-	-	-	-	FBXO30	NM_032145,p.L346fs|ENST00000237281,p.L346fs|uc003qla.3,p.L346fs	protein_coding	uc003qla.3	frameshift insertion	exon2	c.1037dupT	p.L346fs	AAQLREIIPSSALPNGTVQHILMPD	AAQLREIIPSSAFA	6.0	5.0	-	-	4284_6:146126504-146126504 ->A_AAQLREIIPSSAFA
14:52474621-52474621 C>T	1.0	4284	COLORECTAL	-	-	-	-	NID2	uc001wzo.3,p.E1263K|NM_007361,p.E1263K|uc010tqs.2,p.E1215K|ENST00000541773,p.E1162K|uc010tqt.1,p.E1263K|ENST00000216286,p.E1263K	retained_intron, protein_coding	uc010tqt.1	nonsynonymous SNV	exon19	c.G3787A	p.E1263K	EAPKIETSSLDGENRRILINTDIGL	EAPKIETSSLDGKNRRILINTDIGL	7.0	6.0	-	-	4284_14:52474621-52474621 C>T_EAPKIETSSLDGKNRRILINTDIGL
14:74370745-74370768 TACAGTTGAAGGTTGTGACCGGAC>-	0.0	4284	COLORECTAL	-	-	-	-	ZNF410	uc001xoz.2,p.221_229del|uc010tuh.2,p.148_156del|NM_021188,p.221_229del|NM_001242927,p.148_156del|ENST00000398139,p.221_229del|ENST00000324593,p.221_229del|ENST00000555044,p.221_229del|NM_001242924,p.238_246del|ENST00000540593,p.148_156del|NM_001242926,p.221_229del|ENST00000442160,p.238_246del|uc001xpb.2,p.221_229del|uc010arz.2,p.238_246del|ENST00000334521,p.168_176del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tuh.2	nonframeshift deletion	exon5	c.444_467del	p.148_156del	SGPLPQVEKKLKCTVEGCDRTFVWP	SGPLPQVEKKLKFVWPAHFKYHLK	9.0	2.0	-	-	4284_14:74370745-74370768 TACAGTTGAAGGTTGTGACCGGAC>-_SGPLPQVEKKLKFVWPAHFKYHLK
17:8006786-8006786 T>A	1.0	4284	COLORECTAL	-	-	-	-	ALOXE3	ENST00000318227,p.N736I|ENST00000448843,p.N604I|NM_021628,p.N604I|uc002gka.3,p.N760I|NM_001165960,p.N736I|uc010vuo.2,p.N736I|ENST00000380149,p.N760I|uc010cnr.3,p.N604I	retained_intron, protein_coding	uc010vuo.2	nonsynonymous SNV	exon15	c.A2207T	p.N736I	NSGQHDFGAWMPNAPSSMRQPPPQT	NSGQHDFGAWMPIAPSSMRQPPPQT	3.0	10.0	-	-	4284_17:8006786-8006786 T>A_NSGQHDFGAWMPIAPSSMRQPPPQT
5:39392556-39392556 C>T	1.0	4284	COLORECTAL	-	-	-	-	DAB2	uc003jlx.3,p.A81T|NM_001343,p.A81T|NM_001244871,p.A81T|ENST00000545653,p.A81T|ENST00000320816,p.A81T|ENST00000509337,p.A81T|ENST00000339788,p.A81T|uc003jlw.3,p.A81T|ENST00000507539,p.A81T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jlx.3	nonsynonymous SNV	exon4	c.G241A	p.A81T	SQDSMMKLKGMAAAGRSQGQHKQRI	SQDSMMKLKGMATAGRSQGQHKQRI	9.0	3.0	-	-	4284_5:39392556-39392556 C>T_SQDSMMKLKGMATAGRSQGQHKQRI
14:74370745-74370768 TACAGTTGAAGGTTGTGACCGGAC>-	0.0	4284	COLORECTAL	-	-	-	-	ZNF410	uc010tuj.2,p.35_43del|uc001xpa.2,p.35_43del|NM_001242928,p.35_43del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tuj.2	nonframeshift deletion	exon2	c.104_127del	p.35_43del	LGPFLKWKRSSSVQLKVVTGHLYGQ	LGPFLKWKRSSSDLYGQLTLNTTSR	9.0	2.0	-	-	4284_14:74370745-74370768 TACAGTTGAAGGTTGTGACCGGAC>-_LGPFLKWKRSSSDLYGQLTLNTTSR
13:27254272-27254272 A>C	0.0	4284	COLORECTAL	-	-	-	-	WASF3	uc001uqw.3,p.E214A|ENST00000361042,p.E214A|NM_001291965,p.E214A	protein_coding, processed_transcript	uc001uqw.3	nonsynonymous SNV	exon7	c.A641C	p.E214A	RKEEWERRKMGIEFMSDAKKLEQAG	RKEEWERRKMGIAFMSDAKKLEQAG	7.0	3.0	-	-	4284_13:27254272-27254272 A>C_RKEEWERRKMGIAFMSDAKKLEQAG
2:131674662-131674662 C>T	0.0	4284	COLORECTAL	-	-	-	-	ARHGEF4	ENST00000409359,p.P718L|uc002trz.1,p.P508L|ENST00000438985,p.P42L|uc010fmw.1,p.P508L	retained_intron, protein_coding, processed_transcript	uc010fmw.1	nonsynonymous SNV	exon1	c.C1523T	p.P508L	QEGGRYLPSGIFPEKSWLASPGSPR	QEGGRYLPSGIFLEKSWLASPGSPR	6.0	10.0	-	-	4284_2:131674662-131674662 C>T_QEGGRYLPSGIFLEKSWLASPGSPR
15:56435081-56435081 G>A	1.0	4284	COLORECTAL	-	-	-	-	RFX7	uc010bfn.3,p.S99L|NM_022841,p.S99L|ENST00000423270,p.S99L|ENST00000317318,p.S99L	protein_coding, nonsense_mediated_decay	uc010bfn.3	nonsynonymous SNV	exon4	c.C296T	p.S99L	LSNGEKSDQNAMSSSRAQQMHAFSW	LSNGEKSDQNAMLSSRAQQMHAFSW	8.0	4.0	-	-	4284_15:56435081-56435081 G>A_LSNGEKSDQNAMLSSRAQQMHAFSW
2:130897790-130897790 G>A	0.0	4284	COLORECTAL	-	-	ID=COSM1247549;OCCURENCE=1(oesophagus),1(large_intestine)	-	CCDC74B	ENST00000392984,p.R382C|uc010yzw.2,p.R382C|uc002tqn.2,p.R214C|NM_207310,p.R280C|ENST00000409943,p.R214C|uc002tqm.2,p.R280C|NM_001258307,p.R214C|ENST00000310463,p.R280C	retained_intron, protein_coding, nonsense_mediated_decay	uc010yzw.2	nonsynonymous SNV	exon4	c.C1144T	p.R382C	KPTTLRQCEVLIRELWNTNLLQTQE	KPTTLRQCEVLICELWNTNLLQTQE	5.0	1.0	-	-	4284_2:130897790-130897790 G>A_KPTTLRQCEVLICELWNTNLLQTQE
5:89938763-89938763 A>C	0.0	4284	COLORECTAL	-	-	-	-	GPR98	ENST00000405460,p.N820H|NM_032119,p.N820H|uc003kju.3,p.N820H	retained_intron, protein_coding, processed_transcript	uc003kju.3	nonsynonymous SNV	exon13	c.A2458C	p.N820H	QFLHYRVEPRDSNEFYGNTGVLEFK	QFLHYRVEPRDSHEFYGNTGVLEFK	6.0	1.0	-	-	4284_5:89938763-89938763 A>C_QFLHYRVEPRDSHEFYGNTGVLEFK
6:42185574-42185574 G>A	1.0	4284	COLORECTAL	-	-	-	-	MRPS10	NM_018141,p.T5I|ENST00000053468,p.T5I|uc003osa.4,p.T5I	protein_coding	uc003osa.4	nonsynonymous SNV	exon1	c.C14T	p.T5I	MAARTAFGAVCRRLWQG	MAARIAFGAVCRRLWQG	7.0	8.0	-	-	4284_6:42185574-42185574 G>A_MAARIAFGAVCRRLWQG
1:91405425-91405425 A>C	1.0	4284	COLORECTAL	-	-	-	-	ZNF644	ENST00000370440,p.L496V|NM_201269,p.L496V|uc001dnw.3,p.L496V|uc001dny.2,p.L496V|ENST00000337393,p.L496V	protein_coding, processed_transcript	uc001dny.2	nonsynonymous SNV	exon3	c.T1486G	p.L496V	LKELQDEGRSARLQCPQCVFGTNCP	LKELQDEGRSARVQCPQCVFGTNCP	9.0	3.0	-	-	4284_1:91405425-91405425 A>C_LKELQDEGRSARVQCPQCVFGTNCP
9:140080729-140080729 C>G	1.0	4284	COLORECTAL	-	-	-	-	ANAPC2	uc004clq.1,p.E133Q|NM_013366,p.E274Q|ENST00000323927,p.E274Q|uc004clr.1,p.E274Q	protein_coding, processed_transcript	uc004clr.1	nonsynonymous SNV	exon3	c.G820C	p.E274Q	TTTLHQVTRERMEDRCRGEYERSFL	TTTLHQVTRERMQDRCRGEYERSFL	7.0	5.0	-	-	4284_9:140080729-140080729 C>G_TTTLHQVTRERMQDRCRGEYERSFL
19:9204290-9204290 G>A	0.0	4284	COLORECTAL	0.0009	-	-	-	OR1M1	uc010xkj.2,p.V124M|ENST00000429566,p.V124M|NM_001004456,p.V124M	protein_coding	uc010xkj.2	nonsynonymous SNV	exon1	c.G370A	p.V124M	SVIIAMMAYDRFVAICHPLHYAKIM	SVIIAMMAYDRFMAICHPLHYAKIM	1.0	9.0	-	-	4284_19:9204290-9204290 G>A_SVIIAMMAYDRFMAICHPLHYAKIM
1:202092540-202092540 C>T	1.0	4284	COLORECTAL	-	-	ID=COSM3803468;OCCURENCE=1(breast)	-	GPR37L1	uc001gxj.3,p.S150L|ENST00000367282,p.S150L|NM_004767,p.S150L	protein_coding	uc001gxj.3	nonsynonymous SNV	exon1	c.C449T	p.S150L	LVVFAVGIVGNLSVMCIVWHSYYLK	LVVFAVGIVGNLLVMCIVWHSYYLK	3.0	10.0	-	-	4284_1:202092540-202092540 C>T_LVVFAVGIVGNLLVMCIVWHSYYLK
11:101929624-101929624 A>T	1.0	4284	COLORECTAL	-	-	-	-	C11orf70	ENST00000534360,p.D69V|ENST00000434758,p.D69V|NM_032930,p.D69V|NM_001195005,p.D69V|ENST00000526781,p.D69V|uc001pgp.3,p.D69V|uc001pgq.3,p.D31V|uc001pgo.3,p.D69V	retained_intron, protein_coding	uc001pgq.3	nonsynonymous SNV	exon2	c.A92T	p.D31V	YRKDDFVMAFFKDPNVIPNLKLLSD	YRKDDFVMAFFKVPNVIPNLKLLSD	5.0	4.0	-	-	4284_11:101929624-101929624 A>T_YRKDDFVMAFFKVPNVIPNLKLLSD
6:8422704-8422704 T>G	1.0	4284	COLORECTAL	-	-	-	-	SLC35B3	uc011did.2,p.Q191H|ENST00000379660,p.Q191H|ENST00000339306,p.Q191H|NM_015948,p.Q191H|NM_001142541,p.Q191H|uc010joe.3,p.Q191H|uc003myb.3,p.Q191H	protein_coding	uc011did.2	nonsynonymous SNV	exon5	c.A573C	p.Q191H	KLIPVMLGGVFIQGKRYNVADVSAA	KLIPVMLGGVFIHGKRYNVADVSAA	7.0	4.0	-	-	4284_6:8422704-8422704 T>G_KLIPVMLGGVFIHGKRYNVADVSAA
7:48494709-48494709 G>A	1.0	4284	COLORECTAL	-	-	-	-	ABCA13	ENST00000411975,p.R17Q|uc031sxh.1,p.R1895Q|uc010kys.2,p.R1895Q|uc003toq.2,p.R4214Q|NM_152701,p.R4214Q|ENST00000435803,p.R4214Q|uc031sxg.1,p.R1895Q	retained_intron, protein_coding, nonsense_mediated_decay	uc031sxh.1	nonsynonymous SNV	exon26	c.G5684A	p.R1895Q	QLLRAQVAAILARRLRRTLRAGKST	QLLRAQVAAILAQRLRRTLRAGKST	5.0	9.0	-	-	4284_7:48494709-48494709 G>A_QLLRAQVAAILAQRLRRTLRAGKST
2:220089128-220089128 C>T	1.0	4284	COLORECTAL	-	-	-	-	ATG9A	NM_024085,p.R322Q|ENST00000409618,p.R322Q|NM_001077198,p.R322Q|ENST00000409422,p.R261Q|ENST00000361242,p.R322Q|uc002vkf.1,p.R322Q|ENST00000396761,p.R322Q|uc002vke.1,p.R322Q|ENST00000409033,p.R322Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002vkf.1	nonsynonymous SNV	exon7	c.G965A	p.R322Q	LYAFFSYAEVLKREPGALGARCWSL	LYAFFSYAEVLKQEPGALGARCWSL	9.0	6.0	-	-	4284_2:220089128-220089128 C>T_LYAFFSYAEVLKQEPGALGARCWSL
5:83402543-83402543 T>A	0.0	4284	COLORECTAL	-	-	-	-	EDIL3	ENST00000380138,p.Y182F|NM_001278642,p.Y182F|uc003kip.1,p.Y182F|NM_005711,p.Y192F|ENST00000296591,p.Y192F|uc003kio.1,p.Y192F	protein_coding, processed_transcript	uc003kip.1	nonsynonymous SNV	exon5	c.A545T	p.Y182F	HRALFGLQKWYPYYARLNKKGLINA	HRALFGLQKWYPFYARLNKKGLINA	6.0	1.0	-	-	4284_5:83402543-83402543 T>A_HRALFGLQKWYPFYARLNKKGLINA
1:108291680-108291680 A>C	0.0	4284	COLORECTAL	-	-	-	-	VAV3	uc001dvk.1,p.L471R|ENST00000371846,p.L406R|uc010ouw.1,p.L471R|ENST00000527011,p.L471R|uc001dvl.1,p.L295R|NM_006113,p.L471R|ENST00000370056,p.L471R|uc010oux.1,p.L471R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010oux.1	nonsynonymous SNV	exon15	c.T1412G	p.L471R	DKENKKWSYGFYLIHTQGQNGLEFY	DKENKKWSYGFYRIHTQGQNGLEFY	10.0	3.0	-	-	4284_1:108291680-108291680 A>C_DKENKKWSYGFYRIHTQGQNGLEFY
4:661683-661683 C>G	1.0	4284	COLORECTAL	-	-	-	-	PDE6B	uc003gap.3,p.F797L|NM_001145292,p.F518L|NM_000283,p.F797L|uc011buy.2,p.F518L|NM_001145291,p.F797L|ENST00000496514,p.F797L|ENST00000429163,p.F518L|uc003gao.4,p.F797L|uc011buz.2,p.F229L|ENST00000255622,p.F797L	retained_intron, protein_coding	uc011buz.2	nonsynonymous SNV	exon9	c.C687G	p.F229L	EFSRFHEEILPMFDRLQNNRKEWKA	EFSRFHEEILPMLDRLQNNRKEWKA	7.0	5.0	-	-	4284_4:661683-661683 C>G_EFSRFHEEILPMLDRLQNNRKEWKA
7:73038818-73038818 G>T	1.0	4284	COLORECTAL	-	-	-	-	MLXIPL	ENST00000313375,p.A2D|uc003tyn.1,p.A2D|NM_032951,p.A2D|ENST00000434326,p.A2D|NM_032952,p.A2D|ENST00000429400,p.A2D|ENST00000354613,p.A2D|ENST00000414749,p.A2D|NM_032953,p.A2D|uc003typ.1,p.A2D|ENST00000453275,p.A2D|uc003tyl.1,p.A2D|ENST00000395189,p.A2D|uc003tym.1,p.A2D|ENST00000345114,p.A2D|NM_032954,p.A2D|uc003tyk.1,p.A2D	retained_intron, protein_coding, nonsense_mediated_decay	uc003typ.1	nonsynonymous SNV	exon1	c.C5A	p.A2D	MAGALAGLAAGLQV	MDGALAGLAAGLQV	9.0	10.0	-	-	4284_7:73038818-73038818 G>T_MDGALAGLAAGLQV
9:130289477-130289503 TTGTTTTCGTAGAGCACCAGCCCGTAG>-	0.0	4284	COLORECTAL	-	-	-	-	FAM129B	NM_022833,p.95_104del|NM_001035534,p.82_91del|ENST00000373312,p.95_104del|uc004brj.4,p.95_104del|uc004bri.3,p.82_91del|ENST00000373314,p.82_91del|uc004brh.3,p.95_104del	protein_coding, processed_transcript	uc004brj.4	nonframeshift deletion	exon3	c.285_311del	p.95_104del	KKWRNRFSLVPHNYGLVLYENKAAY	KKWRNRFSLVPHKAAYERQVPPRAV	9.0	2.0	-	-	4284_9:130289477-130289503 TTGTTTTCGTAGAGCACCAGCCCGTAG>-_KKWRNRFSLVPHKAAYERQVPPRAV
7:43663437-43663437 G>C	1.0	4284	COLORECTAL	-	-	-	-	STK17A	ENST00000319357,p.L290F|uc003tih.3,p.L290F|NM_004760,p.L290F	retained_intron, protein_coding, processed_transcript	uc003tih.3	nonsynonymous SNV	exon6	c.G870C	p.L290F	MNLSYSEEEFDVLSESAVDFIRTLL	MNLSYSEEEFDVFSESAVDFIRTLL	6.0	6.0	-	-	4284_7:43663437-43663437 G>C_MNLSYSEEEFDVFSESAVDFIRTLL
X:102755347-102755347 T>G	1.0	4284	COLORECTAL	-	-	-	-	RAB40A	uc004ekk.3,p.E113A|ENST00000372633,p.E113A|ENST00000304236,p.E113A|uc022cbs.1,p.E113A|NM_080879,p.E113A	protein_coding	uc022cbs.1	nonsynonymous SNV	exon1	c.A338C	p.E113A	SFEGMDRWIKKIEEHAPGVPKILVG	SFEGMDRWIKKIAEHAPGVPKILVG	4.0	6.0	-	-	4284_X:102755347-102755347 T>G_SFEGMDRWIKKIAEHAPGVPKILVG
3:130098701-130098701 G>T	0.0	4284	COLORECTAL	-	-	-	-	COL6A5	ENST00000432398,p.A370S|NM_153264,p.A370S|ENST00000265379,p.A370S|uc010htj.2,p.A370S|uc010htk.2,p.A370S|ENST00000312481,p.A370S|NM_001278298,p.A370S	protein_coding, nonsense_mediated_decay	uc010htk.2	nonsynonymous SNV	exon4	c.G1108T	p.A370S	ALNLRLEDVNVFALSIQGANNTQLE	ALNLRLEDVNVFSLSIQGANNTQLE	4.0	5.0	-	-	4284_3:130098701-130098701 G>T_ALNLRLEDVNVFSLSIQGANNTQLE
19:41627431-41627431 G>A	1.0	4284	COLORECTAL	-	-	-	-	CYP2F1	NM_000774,p.G185S|ENST00000532164,p.G185S|uc010xvv.1,p.G185S|uc002opu.1,p.G185S|ENST00000331105,p.G185S	retained_intron, protein_coding, nonsense_mediated_decay, non_stop_decay	uc010xvv.1	nonsynonymous SNV	exon5	c.G553A	p.G185S	RSVSNIICSVLFGSRFDYDDERLLT	RSVSNIICSVLFSSRFDYDDERLLT	2.0	8.0	-	-	4284_19:41627431-41627431 G>A_RSVSNIICSVLFSSRFDYDDERLLT
20:10628694-10628694 C>T	1.0	4284	COLORECTAL	-	-	-	-	JAG1	uc010gcd.1,p.S103N|NM_000214,p.S545N|ENST00000423891,p.S386N|uc002wnw.2,p.S545N|ENST00000254958,p.S545N	protein_coding, processed_transcript	uc010gcd.1	nonsynonymous SNV	exon5	c.G308A	p.S103N	PCQNGAQCYNRASDYFCKCPEDYEG	PCQNGAQCYNRANDYFCKCPEDYEG	8.0	9.0	-	-	4284_20:10628694-10628694 C>T_PCQNGAQCYNRANDYFCKCPEDYEG
8:146015241-146015241 C>T	1.0	4284	COLORECTAL	-	-	-	-	RPL8	uc003zec.3,p.R241H|ENST00000528957,p.R241H|NM_033301,p.R241H|uc003zeb.3,p.R241H|NM_000973,p.R241H|ENST00000533397,p.R220H|ENST00000527914,p.R132H|ENST00000262584,p.R241H|ENST00000394920,p.R241H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zec.3	nonsynonymous SNV	exon6	c.G722A	p.R241H	APAGRKVGLIAARRTGRLRGTKTVQ	APAGRKVGLIAAHRTGRLRGTKTVQ	10.0	3.0	-	-	4284_8:146015241-146015241 C>T_APAGRKVGLIAAHRTGRLRGTKTVQ
10:49791089-49791089 C>T	1.0	4284	COLORECTAL	-	-	-	-	ARHGAP22	ENST00000460425,p.R54K|uc001jgu.4,p.R48K|uc001jgt.4,p.R48K|ENST00000417912,p.R48K|ENST00000435790,p.R54K|NM_001256025,p.R54K|NM_021226,p.R48K|NM_001256024,p.R48K|ENST00000249601,p.R48K|uc010qgm.3,p.R54K|uc010qgl.3,p.R48K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qgm.3	nonsynonymous SNV	exon2	c.G161A	p.R54K	GPVLKAGWLKKQRSIMKNWQQRWFV	GPVLKAGWLKKQKSIMKNWQQRWFV	6.0	6.0	-	-	4284_10:49791089-49791089 C>T_GPVLKAGWLKKQKSIMKNWQQRWFV
1:144220887-144220887 T>G	1.0	4284	COLORECTAL	-	-	-	-	NBPF20	uc010oxn.2,p.L625V|uc021otp.1,p.L542V|uc021oto.2,p.L542V|uc010oyd.2,p.L54V|uc001ekk.2,p.L298V|ENST00000369373,p.L52V|uc021otv.1,p.L298V|NM_001278267,p.L1576V|uc021otu.1,p.L298V	protein_coding	uc021otv.1	nonsynonymous SNV	exon13	c.T892G	p.L298V	YSTPSGYLELPDLGQPYSSAVYSLE	YSTPSGYLELPDVGQPYSSAVYSLE	10.0	7.0	-	-	4284_1:144220887-144220887 T>G_YSTPSGYLELPDVGQPYSSAVYSLE
12:25398284-25398284 C>A	1.0	4284	COLORECTAL	-	-	ID=COSM1140133,COSM520;OCCURENCE=24(skin),10(breast),24(small_intestine),17(urinary_tract),2(genital_tract),2(kidney),1(eye),5(liver),1402(pancreas),39(prostate),110(biliary_tract),4060(large_intestine),1(autonomic_ganglia),245(ovary),4(soft_tissue),102(endometrium),13(thyroid),13(peritoneum),878(lung),6(testis),8(cervix),36(haematopoietic_and_lymphoid_tissue),2(pleura),9(gastrointestinal_tract_(site_indeterminate)),1(central_nervous_system),32(stomach),2(thymus),3(upper_aerodigestive_tract),4(oesophagus)	1	KRAS	uc001rgp.1,p.G12V|ENST00000256078,p.G12V|NM_004985,p.G12V|ENST00000557334,p.G12V|NM_033360,p.G12V|ENST00000311936,p.G12V|uc001rgq.1,p.G12V|ENST00000556131,p.G12V	protein_coding	uc001rgq.1	nonsynonymous SNV	exon2	c.G35T	p.G12V	MTEYKLVVVGAGGVGKSALTIQLI	MTEYKLVVVGAVGVGKSALTIQLI	7.0	10.0	-	-	4284_12:25398284-25398284 C>A_MTEYKLVVVGAVGVGKSALTIQLI
1:82447589-82447589 T>A	1.0	4284	COLORECTAL	-	-	-	-	LPHN2	uc009wcd.3,p.Y1054N|ENST00000370721,p.Y992N|NM_001297704,p.Y1054N|ENST00000370713,p.Y1054N|ENST00000370727,p.Y1082N|ENST00000370715,p.Y1054N|uc001div.3,p.Y1054N|uc001diu.3,p.Y1054N|ENST00000271029,p.Y1082N|ENST00000370725,p.Y1082N|uc009wce.1,p.Y155N|ENST00000394879,p.Y1069N|ENST00000359929,p.Y1054N|NM_001297706,p.Y1054N|NM_001297705,p.Y1054N|ENST00000370717,p.Y1082N|uc001dit.4,p.Y1054N|ENST00000319517,p.Y1054N|ENST00000370728,p.Y1067N|uc001diw.3,p.Y638N|NM_012302,p.Y1054N|ENST00000370730,p.Y1067N|ENST00000335786,p.Y1067N|ENST00000370723,p.Y1069N	protein_coding, processed_transcript	uc009wce.1	nonsynonymous SNV	exon5	c.T463A	p.Y155N	LLFINEETIVMAYLFTIFNAFQGVF	LLFINEETIVMANLFTIFNAFQGVF	7.0	6.0	-	-	4284_1:82447589-82447589 T>A_LLFINEETIVMANLFTIFNAFQGVF
5:140604405-140604405 A>G	1.0	4284	COLORECTAL	-	-	-	-	PCDHB14	NM_018934,p.D443G|ENST00000515856,p.D290G|uc003ljb.3,p.D443G|ENST00000239449,p.D443G	protein_coding	uc003ljb.3	nonsynonymous SNV	exon1	c.A1328G	p.D443G	LKTEYNITVLLSDVNDNAPTFTQTS	LKTEYNITVLLSGVNDNAPTFTQTS	8.0	10.0	-	-	4284_5:140604405-140604405 A>G_LKTEYNITVLLSGVNDNAPTFTQTS
2:196825584-196825584 T>C	0.0	4284	COLORECTAL	-	-	-	-	DNAH7	uc002utj.4,p.N764S|ENST00000312428,p.N764S|NM_018897,p.N764S	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon18	c.A2291G	p.N764S	VYPQRKKIQDGLNPYLRLYETAVEF	VYPQRKKIQDGLSPYLRLYETAVEF	5.0	7.0	-	-	4284_2:196825584-196825584 T>C_VYPQRKKIQDGLSPYLRLYETAVEF
X:152801800-152801800 C>T	0.0	4284	COLORECTAL	-	-	ID=COSM1184076,COSM1184077,COSM1184075,COSM1184074;OCCURENCE=1(large_intestine)	1	ATP2B3	ENST00000263519,p.A32V|NM_021949,p.A32V|uc004fhs.1,p.A32V|ENST00000370181,p.A32V|ENST00000359149,p.A32V|ENST00000349466,p.A32V|NM_001001344,p.A32V|ENST00000370186,p.A32V|ENST00000393842,p.A32V|uc004fht.1,p.A32V	protein_coding, processed_transcript	uc004fht.1	nonsynonymous SNV	exon1	c.C95T	p.A32V	DVPQAGGFGCTLAELRTLMELRGAE	DVPQAGGFGCTLVELRTLMELRGAE	1.0	10.0	-	-	4284_X:152801800-152801800 C>T_DVPQAGGFGCTLVELRTLMELRGAE
6:46803155-46803155 G>T	1.0	4284	COLORECTAL	-	-	-	-	MEP1A	uc011dwg.1,p.Q373H|uc011dwh.1,p.Q679H|uc011dwi.1,p.Q551H|uc010jzh.1,p.Q651H|NM_005588,p.Q651H|ENST00000230588,p.Q651H	protein_coding	uc011dwi.1	nonsynonymous SNV	exon11	c.G1653T	p.Q551H	LPVSLSQGQPSRQKRSVENTGPLED	LPVSLSQGQPSRHKRSVENTGPLED	9.0	10.0	-	-	4284_6:46803155-46803155 G>T_LPVSLSQGQPSRHKRSVENTGPLED
17:7578475-7578475 G>-	1.0	4284	COLORECTAL	-	-	ID=COSM1180852,COSM1180850,COSM1180849,COSM43792,COSM1180851;OCCURENCE=2(haematopoietic_and_lymphoid_tissue),1(lung),1(liver),2(large_intestine)	1	TP53	uc031qyq.1,p.P113fs|uc002gio.3,p.P20fs|ENST00000509690,p.P20fs|uc010vug.3,p.P113fs|ENST00000413465,p.P152fs|ENST00000455263,p.P152fs|ENST00000514944,p.P59fs|NM_001126118,p.P113fs|uc010cnh.2,p.P152fs|NM_001126116,p.P20fs|NM_000546,p.P152fs|ENST00000445888,p.P152fs|uc002gij.3,p.P113fs|NM_001276696,p.P113fs|NM_001126113,p.P152fs|uc002gig.1,p.P152fs|NM_001126117,p.P20fs|uc002gih.3,p.P152fs|ENST00000359597,p.P152fs|NM_001126115,p.P20fs|ENST00000269305,p.P152fs|uc002gin.3,p.P59fs|uc010cni.2,p.P152fs|NM_001126114,p.P152fs|uc002gim.3,p.P152fs|NM_001276695,p.P113fs|NM_001276760,p.P113fs|ENST00000420246,p.P152fs|NM_001276761,p.P113fs|NM_001126112,p.P152fs	retained_intron, protein_coding, processed_transcript	uc031qyq.1	frameshift deletion	exon4	c.338delC	p.P113fs	TCPVQLWVDSTPPPGTRVRAMAIYK	TCPVQLWVDSTPRPAPASAPWPSTSSHST	8.0	10.0	-	-	4284_17:7578475-7578475 G>-_TCPVQLWVDSTPRPAPASAPWPSTSSHST
11:5809851-5809851 C>T	0.0	4284	COLORECTAL	-	-	-	-	OR52N1	ENST00000317078,p.A66T|NM_001001913,p.A66T|uc010qzo.2,p.A66T	protein_coding	uc010qzo.2	nonsynonymous SNV	exon1	c.G196A	p.A66T	DEALHRPMYVFLALLSFTDVLMCTS	DEALHRPMYVFLTLLSFTDVLMCTS	2.0	9.0	-	-	4284_11:5809851-5809851 C>T_DEALHRPMYVFLTLLSFTDVLMCTS
4:177052719-177052719 C>T	1.0	4284	COLORECTAL	-	-	-	-	WDR17	NM_181265,p.P310S|uc003iuj.3,p.P334S|ENST00000508596,p.P310S|uc003ium.4,p.P310S|ENST00000280190,p.P334S|ENST00000507824,p.P317S|ENST00000393643,p.P310S|NM_170710,p.P334S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ium.4	nonsynonymous SNV	exon7	c.C928T	p.P310S	NSPPRKKFSVQSPTKNHYTSSTSEA	NSPPRKKFSVQSSTKNHYTSSTSEA	6.0	6.0	-	-	4284_4:177052719-177052719 C>T_NSPPRKKFSVQSSTKNHYTSSTSEA
17:62856500-62856500 G>A	1.0	4284	COLORECTAL	-	-	-	-	LRRC37A3	uc031rdx.1,p.A1261V|uc010wqg.1,p.A373V|uc031rdo.1,p.A293V|uc002jex.1,p.A232V|ENST00000584306,p.A1255V|uc010wqf.1,p.A293V|ENST00000400877,p.A293V|uc002jey.2,p.A1255V|uc031reb.1,p.A1206V|ENST00000334962,p.A232V|uc031rdu.1,p.A1131V|uc031rdz.1,p.A1231V|ENST00000339474,p.A373V|uc031rdq.1,p.A1204V|NM_199340,p.A1255V|ENST00000319651,p.A1255V|uc031rea.1,p.A1231V|uc031rdn.1,p.A261V|uc010dek.2,p.A1180V	protein_coding, processed_transcript	uc031reb.1	nonsynonymous SNV	exon7	c.C3617T	p.A1206V	AAVSVLKPFSKGAPSTSSPAKALPQ	AAVSVLKPFSKGVPSTSSPAKALPQ	10.0	9.0	-	-	4284_17:62856500-62856500 G>A_AAVSVLKPFSKGVPSTSSPAKALPQ
9:18777034-18777034 G>A	0.0	4284	COLORECTAL	-	-	ID=COSM158916;OCCURENCE=1(breast)	-	ADAMTSL1	uc003zne.4,p.R936H|NM_001040272,p.R936H|ENST00000380548,p.R936H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zne.4	nonsynonymous SNV	exon19	c.G2807A	p.R936H	VTVAPFGYLKIHRLKPSDAGVYTCS	VTVAPFGYLKIHHLKPSDAGVYTCS	5.0	2.0	-	-	4284_9:18777034-18777034 G>A_VTVAPFGYLKIHHLKPSDAGVYTCS
4:55594007-55594007 G>C	1.0	4284	COLORECTAL	-	-	-	1	KIT	NM_001093772,p.G594A|ENST00000288135,p.G598A|uc010igs.3,p.G594A|uc010igr.3,p.G598A|ENST00000412167,p.G594A|uc010igt.2,p.G47A|NM_000222,p.G598A	retained_intron, protein_coding	uc010igt.2	nonsynonymous SNV	exon2	c.G140C	p.G47A	RNRLSFGKTLGAGAFGKVVEATAYG	RNRLSFGKTLGAAAFGKVVEATAYG	7.0	1.0	-	-	4284_4:55594007-55594007 G>C_RNRLSFGKTLGAAAFGKVVEATAYG
16:84229837-84229837 G>A	1.0	4284	COLORECTAL	-	-	ID=COSM1128852;OCCURENCE=1(prostate)	-	ADAD2	uc002fhr.2,p.A463T|ENST00000315906,p.A463T|uc002fhq.2,p.A545T|NM_001145400,p.A463T|NM_139174,p.A545T|ENST00000268624,p.A545T	retained_intron, protein_coding, processed_transcript	uc002fhr.2	nonsynonymous SNV	exon8	c.G1387A	p.A463T	LGPCLPPPYVRTALHLFAGPPVAPS	LGPCLPPPYVRTTLHLFAGPPVAPS	4.0	8.0	-	-	4284_16:84229837-84229837 G>A_LGPCLPPPYVRTTLHLFAGPPVAPS
13:101833472-101833472 G>C	0.0	4284	COLORECTAL	-	-	-	-	NALCN	ENST00000376196,p.L661V|uc001voz.2,p.L661V|uc001vpa.2,p.L661V	retained_intron, protein_coding, processed_transcript	uc001vpa.2	nonsynonymous SNV	exon15	c.C1981G	p.L661V	GICVAWESILGSLSLSHNLR	GICVAWESILGSVSLSHNLR	4.0	10.0	unscreened	-	4284_13:101833472-101833472 G>C_GICVAWESILGSVSLSHNLR
17:76565324-76565324 G>A	0.0	4284	COLORECTAL	-	-	-	-	DNAH17	ENST00000389840,p.P403L|uc010dhp.2,p.P403L|uc002jvv.2,p.P105L|ENST00000585328,p.P403L|NM_173628,p.P403L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dhp.2	nonsynonymous SNV	exon9	c.C1208T	p.P403L	CVNMKLFFKDKEPVPWEFPSSLAFS	CVNMKLFFKDKELVPWEFPSSLAFS	5.0	5.0	unscreened	-	4284_17:76565324-76565324 G>A_CVNMKLFFKDKELVPWEFPSSLAFS
6:28200683-28200683 C>G	1.0	4284	COLORECTAL	-	-	-	-	ZSCAN9	NM_006299,p.H304Q|ENST00000531979,p.H304Q|ENST00000425468,p.H355Q|ENST00000527844,p.H333Q|uc003nkq.2,p.H304Q|uc010jqz.2,p.H355Q|NM_001199480,p.H304Q|NM_001199479,p.H355Q|ENST00000252207,p.H304Q|uc003nkr.2,p.H304Q	retained_intron, protein_coding, processed_transcript	uc010jqz.2	nonsynonymous SNV	exon5	c.C1065G	p.H355Q	SRSSGLFNHRGIHNIQKRYHCKECG	SRSSGLFNHRGIQNIQKRYHCKECG	7.0	10.0	-	-	4284_6:28200683-28200683 C>G_SRSSGLFNHRGIQNIQKRYHCKECG
12:63987906-63987906 C>T	0.0	4284	COLORECTAL	-	-	-	-	DPY19L2	uc001srp.1,p.R514H|NM_173812,p.R514H|ENST00000324472,p.R514H	retained_intron, protein_coding, nonsense_mediated_decay	uc001srp.1	nonsynonymous SNV	exon16	c.G1541A	p.R514H	MVITCFIFKKTVRDISYVLATNIYL	MVITCFIFKKTVHDISYVLATNIYL	6.0	4.0	-	-	4284_12:63987906-63987906 C>T_MVITCFIFKKTVHDISYVLATNIYL
5:123982388-123982388 G>A	1.0	4284	COLORECTAL	-	-	-	-	ZNF608	ENST00000504926,p.T803I|uc003ktq.1,p.T1230I|NM_020747,p.T1230I|ENST00000306315,p.T1230I	protein_coding, processed_transcript, nonsense_mediated_decay	uc003ktq.1	nonsynonymous SNV	exon4	c.C3689T	p.T1230I	VMDSMKQTGVDPTSRFKQDPDSRTW	VMDSMKQTGVDPISRFKQDPDSRTW	8.0	7.0	-	-	4284_5:123982388-123982388 G>A_VMDSMKQTGVDPISRFKQDPDSRTW
8:22265987-22265987 G>T	1.0	4284	COLORECTAL	-	-	-	-	SLC39A14	ENST00000359741,p.E145D|uc003xbp.4,p.E145D|NM_015359,p.E145D	retained_intron, protein_coding	uc003xbp.4	nonsynonymous SNV	exon3	c.G435T	p.E145D	ENQENEENEQTEEGRPSAVEVWGFG	ENQENEENEQTEDGRPSAVEVWGFG	7.0	8.0	-	-	4284_8:22265987-22265987 G>T_ENQENEENEQTEDGRPSAVEVWGFG
8:22265987-22265987 G>T	1.0	4284	COLORECTAL	-	-	-	-	SLC39A14	uc011kzh.2,p.E145D|NM_001128431,p.E145D|ENST00000381237,p.E145D|ENST00000289952,p.E145D|ENST00000240095,p.E145D|uc011kzg.2,p.E145D|uc003xbq.4,p.E145D|NM_001135153,p.E145D|NM_001135154,p.E145D	retained_intron, protein_coding	uc011kzh.2	nonsynonymous SNV	exon3	c.G435T	p.E145D	ENQENEENEQTEEGRPSAVEVWGYG	ENQENEENEQTEDGRPSAVEVWGYG	7.0	8.0	unscreened	-	4284_8:22265987-22265987 G>T_ENQENEENEQTEDGRPSAVEVWGYG
3:195509515-195509515 T>A	1.0	4284	COLORECTAL	-	rs28438604	-	2	MUC4	uc021xjp.1,p.D2979V|ENST00000462323,p.D2979V|ENST00000478156,p.D2979V|ENST00000466475,p.D2979V|NM_018406,p.D2979V|ENST00000463781,p.D2979V|ENST00000477086,p.D2979V|ENST00000477756,p.D2979V|ENST00000470451,p.D2979V|ENST00000475231,p.D2979V|ENST00000479406,p.D2979V|ENST00000480843,p.D2979V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.A8936T	p.D2979V	SSASTGHATPLPDTDTSSASTGHAT	SSASTGHATPLPVTDTSSASTGHAT	7.0	2.0	unscreened	-	4284_3:195509515-195509515 T>A_SSASTGHATPLPVTDTSSASTGHAT
19:22941657-22941657 G>T	0.0	4284	COLORECTAL	-	-	-	-	ZNF99	uc021urt.1,p.Q352K|NM_001080409,p.Q352K|ENST00000397104,p.Q261K|ENST00000596209,p.Q352K	protein_coding	uc021urt.1	nonsynonymous SNV	exon4	c.C1054A	p.Q352K	PYKCEECGKAFSQSSTLRKHEIIHT	PYKCEECGKAFSKSSTLRKHEIIHT	6.0	1.0	unscreened	-	4284_19:22941657-22941657 G>T_PYKCEECGKAFSKSSTLRKHEIIHT
8:91657878-91657878 C>T	1.0	4284	COLORECTAL	-	-	-	-	TMEM64	uc011lgf.1,p.G86R|ENST00000458549,p.G86R|NM_001146273,p.G86R|ENST00000418210,p.G86R|uc003yen.2,p.G86R|NM_001008495,p.G86R	protein_coding, processed_transcript	uc011lgf.1	nonsynonymous SNV	exon1	c.G256A	p.G86R	GPPEASELPEPGGALAGGPGSGGGG	GPPEASELPEPGRALAGGPGSGGGG	6.0	5.0	-	-	4284_8:91657878-91657878 C>T_GPPEASELPEPGRALAGGPGSGGGG
1:147091500-147091500 ->C	1.0	4284	COLORECTAL	-	-	ID=COSM1333664;OCCURENCE=3(large_intestine)	1	BCL9	ENST00000234739,p.G513fs|uc010ozr.1,p.G439fs|NM_004326,p.G513fs|uc001epq.3,p.G513fs	protein_coding, processed_transcript	uc010ozr.1	frameshift insertion	exon5	c.1318dupC	p.G439fs	MVHQHGPRGVVRGPPPPYQMTPSEG	MVHQHGPRGVVRGPPPSIPDDP	8.0	10.0	-	-	4284_1:147091500-147091500 ->C_MVHQHGPRGVVRGPPPSIPDDP
5:58273047-58273047 G>T	1.0	4284	COLORECTAL	-	-	-	-	PDE4D	ENST00000360047,p.Q424K|NM_001197218,p.Q496K|uc003jrv.2,p.Q430K|ENST00000546160,p.Q499K|uc003jrt.2,p.Q258K|ENST00000503258,p.Q430K|uc003jrz.3,p.Q496K|NM_001197223,p.Q269K|ENST00000502484,p.Q499K|uc003jru.3,p.Q336K|NM_001104631,p.Q560K|NM_001197219,p.Q438K|NM_001197220,p.Q430K|NM_006203,p.Q424K|uc003jrx.2,p.Q424K|uc003jry.3,p.Q258K|NM_001165899,p.Q499K|NM_001197222,p.Q336K|ENST00000358923,p.Q258K|ENST00000505453,p.Q258K|ENST00000405755,p.Q438K|ENST00000340635,p.Q560K|uc003jsb.3,p.Q499K|uc003jsa.2,p.Q560K|uc003jrs.2,p.Q269K|NM_001197221,p.Q258K|ENST00000317118,p.Q269K|ENST00000507116,p.Q496K|uc003jrw.2,p.Q438K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jsb.3	nonsynonymous SNV	exon14	c.C1495A	p.Q499K	CDIFQNLTKKQRQSLRKMVIDIVLA	CDIFQNLTKKQRKSLRKMVIDIVLA	8.0	4.0	-	-	4284_5:58273047-58273047 G>T_CDIFQNLTKKQRKSLRKMVIDIVLA
9:84609198-84609198 G>T	0.0	4284	COLORECTAL	-	-	-	-	SPATA31D1	NM_001001670,p.E1271D|ENST00000344803,p.E1271D|uc004amn.3,p.E1271D	protein_coding	uc004amn.3	nonsynonymous SNV	exon4	c.G3813T	p.E1271D	LEDSGIRVAQKQEPRVPTCVLQKCQ	LEDSGIRVAQKQDPRVPTCVLQKCQ	4.0	9.0	-	-	4284_9:84609198-84609198 G>T_LEDSGIRVAQKQDPRVPTCVLQKCQ
X:26158083-26158083 G>C	0.0	4284	COLORECTAL	-	-	-	-	MAGEB18	uc004dbq.2,p.M327I|uc022bub.1,p.M327I|NM_173699,p.M327I|ENST00000325250,p.M327I	protein_coding	uc022bub.1	nonsynonymous SNV	exon1	c.G981C	p.M327I	QARAAARAHTAAMANARSRTTSSSF	QARAAARAHTAAIANARSRTTSSSF	1.0	10.0	-	-	4284_X:26158083-26158083 G>C_QARAAARAHTAAIANARSRTTSSSF
2:174227970-174227970 G>C	1.0	4284	COLORECTAL	-	-	-	-	CDCA7	ENST00000410019,p.R13P|uc010zek.1,p.R13P	retained_intron, protein_coding, nonsense_mediated_decay	uc010zek.1	nonsynonymous SNV	exon2	c.G38C	p.R13P	MDARRVPRLQSVREGCRTRSQCRHS	MDARRVPRLQSVPEGCRTRSQCRHS	10.0	7.0	-	-	4284_2:174227970-174227970 G>C_MDARRVPRLQSVPEGCRTRSQCRHS
12:53242482-53242482 C>T	0.0	4284	COLORECTAL	-	-	-	-	KRT78	ENST00000304620,p.C78Y|NM_173352,p.C78Y|uc001sbc.1,p.C78Y	retained_intron, protein_coding	uc001sbc.1	nonsynonymous SNV	exon1	c.G233A	p.C78Y	FGEWSGGPGLSLCPPGGIQEVTINQ	FGEWSGGPGLSLYPPGGIQEVTINQ	1.0	4.0	-	-	4284_12:53242482-53242482 C>T_FGEWSGGPGLSLYPPGGIQEVTINQ
17:76565325-76565325 G>A	0.0	4284	COLORECTAL	-	-	-	-	DNAH17	NM_173628,p.P403S|uc010dhp.2,p.P403S|ENST00000585328,p.P403S|ENST00000389840,p.P403S|uc002jvv.2,p.P105S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dhp.2	nonsynonymous SNV	exon9	c.C1207T	p.P403S	CVNMKLFFKDKEPVPWEFPSSLAFS	CVNMKLFFKDKESVPWEFPSSLAFS	5.0	5.0	unscreened	-	4284_17:76565325-76565325 G>A_CVNMKLFFKDKESVPWEFPSSLAFS
16:31150701-31150701 C>G	0.0	4284	COLORECTAL	-	-	-	-	PRSS36	uc010vff.3,p.E551Q|uc010vfg.3,p.E771Q|ENST00000268281,p.E776Q|ENST00000569305,p.E771Q|ENST00000418068,p.E673Q|uc010vfh.3,p.E673Q|NM_001258290,p.E771Q|NM_173502,p.E776Q|uc002ebd.4,p.E776Q|NM_001258291,p.E673Q	retained_intron, protein_coding, nonsense_mediated_decay	uc010vfh.3	nonsynonymous SNV	exon14	c.G2017C	p.E673Q	MTSAPPLLCQMTEGSWILVGMAVQG	MTSAPPLLCQMTQGSWILVGMAVQG	5.0	4.0	unscreened	-	4284_16:31150701-31150701 C>G_MTSAPPLLCQMTQGSWILVGMAVQG
6:27925364-27925364 G>A	0.0	4284	COLORECTAL	-	-	-	-	OR2B6	ENST00000244623,p.A116T|uc011dkx.2,p.A116T|NM_012367,p.A116T	protein_coding	uc011dkx.2	nonsynonymous SNV	exon1	c.G346A	p.A116T	FLALGATEYLLLAVMSFDRFVAICR	FLALGATEYLLLTVMSFDRFVAICR	1.0	5.0	unscreened	-	4284_6:27925364-27925364 G>A_FLALGATEYLLLTVMSFDRFVAICR
2:49190317-49190317 C>T	0.0	4284	COLORECTAL	-	-	-	-	FSHR	ENST00000346173,p.C486Y|uc002rwx.3,p.C486Y|NM_000145,p.C548Y|ENST00000406846,p.C548Y|ENST00000304421,p.C522Y|uc010fbn.3,p.C522Y|uc002rww.3,p.C548Y|ENST00000541117,p.C284Y|NM_181446,p.C522Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc010fbn.3	nonsynonymous SNV	exon9	c.G1565A	p.C522Y	VLNVLAFVVICGCYIHIYLTVRNPN	VLNVLAFVVICGYYIHIYLTVRNPN	2.0	3.0	-	-	4284_2:49190317-49190317 C>T_VLNVLAFVVICGYYIHIYLTVRNPN
8:110255281-110255281 G>C	0.0	4284	COLORECTAL	-	-	-	-	NUDCD1	NM_001128211,p.T541S|ENST00000427660,p.T541S|uc010mcl.3,p.T483S|uc003ynb.4,p.T570S|uc003yna.3,p.T541S|NM_032869,p.T570S|ENST00000239690,p.T570S	protein_coding, nonsense_mediated_decay	uc010mcl.3	nonsynonymous SNV	exon11	c.C1448G	p.T483S	GFQATNERLFVLTTKNLFLIKVNTE	GFQATNERLFVLSTKNLFLIKVNTE	7.0	1.0	-	-	4284_8:110255281-110255281 G>C_GFQATNERLFVLSTKNLFLIKVNTE
3:195509006-195509006 C>G	1.0	4284	COLORECTAL	-	-	-	2	MUC4	ENST00000478156,p.D3149H|ENST00000477756,p.D3149H|NM_018406,p.D3149H|ENST00000470451,p.D3149H|ENST00000466475,p.D3149H|ENST00000462323,p.D3149H|uc021xjp.1,p.D3149H|ENST00000479406,p.D3149H|ENST00000463781,p.D3149H|ENST00000475231,p.D3149H|ENST00000477086,p.D3149H|ENST00000480843,p.D3149H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G9445C	p.D3149H	LPVTSTSSASTGDTTPLPVTDTSSA	LPVTSTSSASTGHTTPLPVTDTSSA	7.0	1.0	unscreened	-	4284_3:195509006-195509006 C>G_LPVTSTSSASTGHTTPLPVTDTSSA
9:70918480-70918480 A>C	0.0	4284	COLORECTAL	-	rs2482273	-	-	FOXD4L3	uc004agm.1,p.K205Q|ENST00000342833,p.K205Q|NM_199135,p.K205Q	protein_coding	uc004agm.1	nonsynonymous SNV	exon1	c.A613C	p.K205Q	DNGSFLRRRKRFKRHQLTPGAHLPH	DNGSFLRRRKRFQRHQLTPGAHLPH	6.0	1.0	unscreened	-	4284_9:70918480-70918480 A>C_DNGSFLRRRKRFQRHQLTPGAHLPH
13:36686345-36686345 A>C	0.0	4284	COLORECTAL	-	-	-	-	DCLK1	ENST00000379892,p.S128R|uc001uvf.3,p.S128R|ENST00000255448,p.S128R|NM_004734,p.S128R|ENST00000360631,p.S128R	protein_coding, processed_transcript	uc001uvf.3	nonsynonymous SNV	exon3	c.T384G	p.S128R	KISSLDQLVEGESYVCGSIEPFKKL	KISSLDQLVEGERYVCGSIEPFKKL	5.0	3.0	-	-	4284_13:36686345-36686345 A>C_KISSLDQLVEGERYVCGSIEPFKKL
14:95934277-95934277 G>A	0.0	4284	COLORECTAL	-	-	-	-	SYNE3	uc001yej.1,p.R58C|uc010avi.3,p.R58C|ENST00000334258,p.R58C|NM_152592,p.R58C|uc001yei.4,p.R58C|ENST00000553340,p.R58C|ENST00000557275,p.R58C	retained_intron, protein_coding	uc010avi.3	nonsynonymous SNV	exon2	c.C172T	p.R58C	ETEKICQLEPEGRVRVDLVLRMAEA	ETEKICQLEPEGCVRVDLVLRMAEA	6.0	1.0	-	-	4284_14:95934277-95934277 G>A_ETEKICQLEPEGCVRVDLVLRMAEA
1:162743262-162743262 C>T	0.0	4284	COLORECTAL	-	-	-	1	DDR2	NM_006182,p.H578Y|uc001gcg.3,p.H578Y|uc001gcf.3,p.H578Y|NM_001014796,p.H578Y|ENST00000367922,p.H578Y|ENST00000367921,p.H578Y	protein_coding	uc001gcg.3	nonsynonymous SNV	exon14	c.C1732T	p.H578Y	KEKLGEGQFGEVHLCEVEGMEKFKD	KEKLGEGQFGEVYLCEVEGMEKFKD	7.0	7.0	-	-	4284_1:162743262-162743262 C>T_KEKLGEGQFGEVYLCEVEGMEKFKD
1:145330748-145330748 A>C	1.0	4284	COLORECTAL	-	rs201711193	-	-	NBPF20	uc021oul.2,p.Y1543S|NM_001278267,p.Y2221S|uc021oun.1,p.Y455S|ENST00000342960,p.Y1543S	protein_coding, processed_transcript	uc021oun.1	nonsynonymous SNV	exon13	c.A1364C	p.Y455S	GPEVLQDSLDRCYSTPSGCLELTDS	GPEVLQDSLDRCSSTPSGCLELTDS	10.0	7.0	unscreened	-	4284_1:145330748-145330748 A>C_GPEVLQDSLDRCSSTPSGCLELTDS
6:112510361-112510361 G>C	1.0	4284	COLORECTAL	-	-	-	-	LAMA4	NM_002290,p.C255W|ENST00000389463,p.C255W|ENST00000424408,p.C255W|uc003pvt.3,p.C255W|ENST00000522006,p.C255W|NM_001105207,p.C255W|uc003pvv.3,p.C255W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pvv.3	nonsynonymous SNV	exon7	c.C765G	p.C255W	CGGGPCDSVTGECLEEGFEPPTGCD	CGGGPCDSVTGEWLEEGFEPPTGCD	9.0	8.0	unscreened	-	4284_6:112510361-112510361 G>C_CGGGPCDSVTGEWLEEGFEPPTGCD
6:112510361-112510361 G>C	1.0	4284	COLORECTAL	-	-	-	-	LAMA4	uc003pvu.3,p.C255W|ENST00000521398,p.C255W|ENST00000230538,p.C255W|NM_001105206,p.C255W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pvu.3	nonsynonymous SNV	exon7	c.C765G	p.C255W	CGGGPCDSVTGECLEEGFEPPTGMD	CGGGPCDSVTGEWLEEGFEPPTGMD	9.0	8.0	-	-	4284_6:112510361-112510361 G>C_CGGGPCDSVTGEWLEEGFEPPTGMD
10:83637750-83637750 G>A	0.0	4284	COLORECTAL	-	-	ID=COSM1474824;OCCURENCE=1(breast)	-	NRG3	NM_001165973,p.V12I|uc021pvd.1,p.V12I|uc001kcp.2,p.V12I|ENST00000372142,p.V12I	protein_coding, nonsense_mediated_decay	uc021pvd.1	nonsynonymous SNV	exon1	c.G34A	p.V12I	MECGIPPTLVCVGRGGGLHTINII	MECGIPPTLVCIGRGGGLHTINII	3.0	1.0	-	-	4284_10:83637750-83637750 G>A_MECGIPPTLVCIGRGGGLHTINII
10:83637750-83637750 G>A	0.0	4284	COLORECTAL	-	-	ID=COSM1474824;OCCURENCE=1(breast)	-	NRG3	ENST00000404576,p.V12I|ENST00000555784,p.V12I|uc021pvi.1,p.V12I|uc021pvg.1,p.V12I|uc021pve.1,p.V12I|ENST00000556918,p.V12I	protein_coding, nonsense_mediated_decay	uc021pvi.1	nonsynonymous SNV	exon1	c.G34A	p.V12I	MECGIPPTLVCVGRGGGLHTVGVF	MECGIPPTLVCIGRGGGLHTVGVF	3.0	1.0	-	-	4284_10:83637750-83637750 G>A_MECGIPPTLVCIGRGGGLHTVGVF
10:83637750-83637750 G>A	0.0	4284	COLORECTAL	-	-	ID=COSM1474824;OCCURENCE=1(breast)	-	NRG3	ENST00000602794,p.V12I	protein_coding, nonsense_mediated_decay	ENST00000602794	nonsynonymous SNV	exon1	c.G34A	p.V12I	MECGIPPTLVCVGRGGGLHTVFQR	MECGIPPTLVCIGRGGGLHTVFQR	3.0	1.0	-	-	4284_10:83637750-83637750 G>A_MECGIPPTLVCIGRGGGLHTVFQR
17:3746391-3746391 ->A	0.0	4284	COLORECTAL	-	-	-	-	C17orf85	NM_001114118,p.V80fs|uc010ckl.2,p.V80fs|ENST00000389005,p.V80fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ckl.2	frameshift insertion	exon2	c.237dupT	p.V80fs	ENKAGSFITGIDVTSKEAIEKKEQR	ENKAGSFITGIDCHLQGSN	9.0	8.0	-	-	4284_17:3746391-3746391 ->A_ENKAGSFITGIDCHLQGSN
3:30691841-30691841 G>A	1.0	4284	COLORECTAL	-	-	-	1	TGFBR2	NM_001024847,p.D140N|uc003cen.3,p.D140N|ENST00000295754,p.D115N|uc003ceo.3,p.D115N|ENST00000359013,p.D140N|NM_003242,p.D115N	protein_coding	uc003ceo.3	nonsynonymous SNV	exon3	c.G343A	p.D115N	DPKLPYHDFILEDAASPKCIMKEKK	DPKLPYHDFILENAASPKCIMKEKK	9.0	1.0	-	-	4284_3:30691841-30691841 G>A_DPKLPYHDFILENAASPKCIMKEKK
5:127638775-127638775 T>A	0.0	4284	COLORECTAL	-	-	-	-	FBN2	ENST00000508053,p.D1936V|NM_001999,p.D1936V|ENST00000262464,p.D1936V|uc003kuu.3,p.D1936V	retained_intron, protein_coding, processed_transcript	uc003kuu.3	nonsynonymous SNV	exon46	c.A5807T	p.D1936V	KASQDQTMCMDVDECERHPCGNGTC	KASQDQTMCMDVVECERHPCGNGTC	4.0	1.0	-	-	4284_5:127638775-127638775 T>A_KASQDQTMCMDVVECERHPCGNGTC
1:13718460-13718460 A>G	0.0	4284	COLORECTAL	-	rs200509275	-	-	PRAMEF17	ENST00000376098,p.Q308R|uc009vnz.1,p.Q308R|NM_001099851,p.Q308R	protein_coding	uc009vnz.1	nonsynonymous SNV	exon3	c.A923G	p.Q308R	GTFIFCHAYLADQDMECLSQYPSLS	GTFIFCHAYLADRDMECLSQYPSLS	3.0	9.0	unscreened	-	4284_1:13718460-13718460 A>G_GTFIFCHAYLADRDMECLSQYPSLS
11:92533986-92533986 G>C	0.0	4284	COLORECTAL	-	-	-	2	FAT3	uc001pdj.4,p.V2603L|NM_001008781,p.V2603L|ENST00000409404,p.V2603L|ENST00000298047,p.V2603L|ENST00000525166,p.V2453L	retained_intron, protein_coding, processed_transcript	uc001pdj.4	nonsynonymous SNV	exon9	c.G7807C	p.V2603L	VDENDNAPQFMTVEYRASVRADVGR	VDENDNAPQFMTLEYRASVRADVGR	4.0	8.0	-	-	4284_11:92533986-92533986 G>C_VDENDNAPQFMTLEYRASVRADVGR
20:3654065-3654065 G>T	0.0	4284	COLORECTAL	-	-	-	-	ADAM33	NM_001282447,p.P357T|NM_025220,p.P357T|uc002wir.1,p.P357T|ENST00000350009,p.P357T|ENST00000356518,p.P357T|NM_153202,p.P357T|uc010zqg.1,p.P369T|uc002wit.3,p.P357T|uc002wiu.3,p.P357T|ENST00000379861,p.P357T	protein_coding, processed_transcript	uc010zqg.1	nonsynonymous SNV	exon11	c.C1105A	p.P369T	HEIGHSLGLSHDPDGCCVEAAAESG	HEIGHSLGLSHDTDGCCVEAAAESG	3.0	9.0	-	-	4284_20:3654065-3654065 G>T_HEIGHSLGLSHDTDGCCVEAAAESG
10:119307700-119307700 A>C	1.0	4284	COLORECTAL	-	-	-	-	EMX2	uc001ldh.4,p.K239T|NM_004098,p.K239T|ENST00000553456,p.K239T	protein_coding, processed_transcript	uc001ldh.4	nonsynonymous SNV	exon3	c.A716C	p.K239T	GTHHINRWRIATKQASPEEIDVTSD	GTHHINRWRIATTQASPEEIDVTSD	2.0	8.0	-	-	4284_10:119307700-119307700 A>C_GTHHINRWRIATTQASPEEIDVTSD
15:27182355-27182355 G>A	0.0	4284	COLORECTAL	-	-	ID=COSM161196;OCCURENCE=2(lung),1(NS),1(endometrium)	-	GABRA5	uc021sgi.1,p.V202I|NM_000810,p.V202I|ENST00000355395,p.V202I|uc001zbd.2,p.V202I|NM_001165037,p.V202I|ENST00000335625,p.V202I|ENST00000400081,p.V202I	protein_coding, processed_transcript	uc021sgi.1	nonsynonymous SNV	exon8	c.G604A	p.V202I	KFGSYAYPNSEVVYVWTNGSTKSVV	KFGSYAYPNSEVIYVWTNGSTKSVV	1.0	2.0	-	-	4284_15:27182355-27182355 G>A_KFGSYAYPNSEVIYVWTNGSTKSVV
7:91793412-91793412 C>T	0.0	4284	COLORECTAL	-	-	-	-	LRRD1	NM_001161528,p.E369K|uc011khp.1,p.E369K|ENST00000458448,p.E369K|ENST00000430130,p.E369K	protein_coding, processed_transcript	uc011khp.1	nonsynonymous SNV	exon1	c.G1105A	p.E369K	ADNKLEVISHKIENFRELRILILDK	ADNKLEVISHKIKNFRELRILILDK	1.0	9.0	-	-	4284_7:91793412-91793412 C>T_ADNKLEVISHKIKNFRELRILILDK
16:24573199-24573199 T>G	1.0	4284	COLORECTAL	-	-	-	-	RBBP6	uc002dmk.3,p.L203V|uc010bxr.3,p.L336V|uc002dmh.3,p.L336V|NM_006910,p.L336V|ENST00000319715,p.L336V|uc010vcb.1,p.L203V|ENST00000564314,p.L203V|ENST00000381039,p.L336V|ENST00000348022,p.L336V|uc002dmi.3,p.L336V|NM_018703,p.L336V	retained_intron, protein_coding	uc010vcb.1	nonsynonymous SNV	exon8	c.T607G	p.L203V	NETGYTKRLRKQLPPPPPPIPPPRP	NETGYTKRLRKQVPPPPPPIPPPRP	8.0	5.0	-	-	4284_16:24573199-24573199 T>G_NETGYTKRLRKQVPPPPPPIPPPRP
14:70633747-70633747 A>T	0.0	4284	COLORECTAL	-	-	-	-	SLC8A3	ENST00000356921,p.S465T|uc001xlz.3,p.S465T|uc001xly.3,p.S465T|ENST00000494208,p.S465T|ENST00000381269,p.S465T|ENST00000528359,p.S465T|uc001xlw.3,p.S465T|NM_183002,p.S465T|uc001xlx.3,p.S465T|NM_182932,p.S465T|NM_058240,p.S465T|ENST00000534137,p.S465T|NM_033262,p.S465T|ENST00000357887,p.S465T	protein_coding, processed_transcript, nonsense_mediated_decay	uc001xlz.3	nonsynonymous SNV	exon2	c.T1393A	p.S465T	VVLKPGETQKEFSVGIIDDDIFEED	VVLKPGETQKEFTVGIIDDDIFEED	4.0	4.0	-	-	4284_14:70633747-70633747 A>T_VVLKPGETQKEFTVGIIDDDIFEED
9:100616375-100616375 C>T	0.0	4284	COLORECTAL	-	-	-	-	FOXE1	NM_004473,p.A60V|uc004axu.3,p.A60V|ENST00000375123,p.A60V	protein_coding	uc004axu.3	nonsynonymous SNV	exon1	c.C179T	p.A60V	PLQRGKPPYSYIALIAMAIAHAPER	PLQRGKPPYSYIVLIAMAIAHAPER	4.0	1.0	-	-	4284_9:100616375-100616375 C>T_PLQRGKPPYSYIVLIAMAIAHAPER
22:24836819-24836819 T>G	0.0	4284	COLORECTAL	-	-	-	-	ADORA2A	uc010guq.3,p.F201V|ENST00000337539,p.F201V|NM_001278497,p.F201V|NM_001278499,p.F201V|uc010gup.3,p.F201V|uc011ajs.2,p.F62V|NM_001278500,p.F201V|uc003aab.3,p.F201V|ENST00000444262,p.F201V|uc002zzx.3,p.F201V|NM_001278498,p.F201V|uc002zzy.4,p.F201V|NM_000675,p.F201V	protein_coding, processed_transcript	uc011ajs.2	nonsynonymous SNV	exon2	c.T184G	p.F62V	PLLLMLGVYLRIFLAARRQLKQMES	PLLLMLGVYLRIVLAARRQLKQMES	4.0	6.0	-	-	4284_22:24836819-24836819 T>G_PLLLMLGVYLRIVLAARRQLKQMES
5:63256386-63256386 C>A	0.0	4284	COLORECTAL	-	-	-	-	HTR1A	uc011cqt.3,p.W387C|NM_000524,p.W387C|ENST00000323865,p.W387C	protein_coding	uc011cqt.3	nonsynonymous SNV	exon1	c.G1161T	p.W387C	CHMPTLLGAIINWLGYSNSLLNPVI	CHMPTLLGAIINCLGYSNSLLNPVI	2.0	9.0	-	-	4284_5:63256386-63256386 C>A_CHMPTLLGAIINCLGYSNSLLNPVI
1:186277507-186277507 C>A	1.0	4284	COLORECTAL	-	-	-	-	PRG4	ENST00000445192,p.P886T|ENST00000367485,p.P793T|uc009wyl.3,p.P793T|NM_005807,p.P886T|ENST00000367486,p.P843T|NM_001127709,p.P793T|uc001grt.4,p.P845T|ENST00000367482,p.P752T|ENST00000367483,p.P845T|ENST00000367484,p.P415T|NM_001127708,p.P845T|uc001gru.4,p.P886T|uc009wym.3,p.P752T|NM_001127710,p.P752T	protein_coding	uc009wym.3	nonsynonymous SNV	exon4	c.C2254A	p.P752T	DESTPELSAEPTPKALENSPKEPGV	DESTPELSAEPTTKALENSPKEPGV	7.0	8.0	-	-	4284_1:186277507-186277507 C>A_DESTPELSAEPTTKALENSPKEPGV
2:31489200-31489200 C>T	1.0	4284	COLORECTAL	-	-	-	-	EHD3	uc002rnu.3,p.A413V|ENST00000322054,p.A413V|NM_014600,p.A413V	protein_coding	uc002rnu.3	nonsynonymous SNV	exon6	c.C1238T	p.A413V	ESQRPIQMVKGGAFEGTLHGPFGHG	ESQRPIQMVKGGVFEGTLHGPFGHG	5.0	8.0	-	-	4284_2:31489200-31489200 C>T_ESQRPIQMVKGGVFEGTLHGPFGHG
19:40366121-40366121 G>C	1.0	4284	COLORECTAL	-	-	-	-	FCGBP	ENST00000221347,p.P4705A|uc002omp.4,p.P4705A|NM_003890,p.P4705A	protein_coding, processed_transcript	uc002omp.4	nonsynonymous SNV	exon30	c.C14113G	p.P4705A	GCLLDACQVQGHPGGLCPAVATYVA	GCLLDACQVQGHAGGLCPAVATYVA	8.0	3.0	-	-	4284_19:40366121-40366121 G>C_GCLLDACQVQGHAGGLCPAVATYVA
11:108264079-108264079 T>G	1.0	4284	COLORECTAL	-	-	-	-	C11orf65	ENST00000525729,p.K147T|ENST00000529391,p.K196T|ENST00000533583,p.K178T|NM_152587,p.K196T|uc010rvx.1,p.K147T|ENST00000393084,p.K196T|ENST00000527531,p.K196T|uc001pkh.3,p.K196T	protein_coding, processed_transcript, nonsense_mediated_decay	uc010rvx.1	nonsynonymous SNV	exon5	c.A440C	p.K147T	MRQMYYSGSLEAKSTHHETLGLIHT	MRQMYYSGSLEATSTHHETLGLIHT	4.0	6.0	-	-	4284_11:108264079-108264079 T>G_MRQMYYSGSLEATSTHHETLGLIHT
15:21071312-21071312 C>T	1.0	4284	COLORECTAL	-	-	-	-	POTEB,POTEB2,POTEB3	NM_001277303,p.R100Q|NM_001277304,p.R100Q|ENST00000438063,p.R100Q|ENST00000454856,p.R100Q	protein_coding	NM_001277304	nonsynonymous SNV	exon1	c.G299A	p.R100Q	DSAFMEPRYHVRREDLDKLHRAAWW	DSAFMEPRYHVRQEDLDKLHRAAWW	5.0	2.0	unscreened	-	4284_15:21071312-21071312 C>T_DSAFMEPRYHVRQEDLDKLHRAAWW
3:195505886-195505886 C>G	1.0	4284	COLORECTAL	-	-	-	2	MUC4	ENST00000462323,p.D4189H|ENST00000475231,p.D4189H|ENST00000470451,p.D4189H|ENST00000463781,p.D4189H|NM_018406,p.D4189H|ENST00000478156,p.D4189H|ENST00000477086,p.D4189H|ENST00000477756,p.D4189H|ENST00000480843,p.D4189H|ENST00000479406,p.D4189H|ENST00000466475,p.D4189H|uc021xjp.1,p.D4189H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G12565C	p.D4189H	LPVTSTSSASTGDTTPLPVTDTSSA	LPVTSTSSASTGHTTPLPVTDTSSA	7.0	3.0	unscreened	-	4284_3:195505886-195505886 C>G_LPVTSTSSASTGHTTPLPVTDTSSA
6:99883713-99883713 G>A	1.0	4284	COLORECTAL	-	-	-	-	USP45	NM_001080481,p.A775V|ENST00000539675,p.A68V|ENST00000327681,p.A775V|ENST00000369233,p.A727V|uc003ppx.2,p.A775V|ENST00000392738,p.A455V|ENST00000500704,p.A775V|uc003ppw.2,p.A455V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ppx.2	nonsynonymous SNV	exon18	c.C2324T	p.A775V	HNTKKKNVPGLKAADNESAGQWVHV	HNTKKKNVPGLKVADNESAGQWVHV	8.0	8.0	unscreened	-	4284_6:99883713-99883713 G>A_HNTKKKNVPGLKVADNESAGQWVHV
18:76755310-76755310 C>T	1.0	4284	COLORECTAL	-	-	-	-	SALL3	ENST00000536229,p.R902C|ENST00000575389,p.R1035C|uc002lmt.3,p.R1107C|NM_171999,p.R1107C|ENST00000537592,p.R1107C|uc010dra.3,p.R642C	protein_coding, processed_transcript	uc010dra.3	nonsynonymous SNV	exon2	c.C1924T	p.R642C	GPGLAPMLAPPPRRTPKQHNCQSCG	GPGLAPMLAPPPCRTPKQHNCQSCG	6.0	9.0	-	-	4284_18:76755310-76755310 C>T_GPGLAPMLAPPPCRTPKQHNCQSCG
12:40749921-40749921 ->A	1.0	4284	COLORECTAL	-	-	ID=COSM1361472,COSM1361473;OCCURENCE=1(large_intestine)	-	LRRK2	uc009zjw.3,p.Q1097fs|ENST00000298910,p.Q2259fs|uc001rmi.3,p.Q1092fs|NM_198578,p.Q2259fs|uc001rmg.4,p.Q2259fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zjw.3	frameshift insertion	exon25	c.3290dupA	p.Q1097fs	CLYCNSFSKQSKQKNFLLVGTADGK	CLYCNSFSKQSKQKKFSFGWNR	7.0	7.0	-	-	4284_12:40749921-40749921 ->A_CLYCNSFSKQSKQKKFSFGWNR
1:161275686-161275686 A>G	1.0	4284	COLORECTAL	-	-	-	-	MPZ	uc001gaf.4,p.S243P|ENST00000360451,p.S253P|ENST00000463290,p.S243P|ENST00000533357,p.S243P|NM_000530,p.S243P|ENST00000491222,p.S47P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001gaf.4	nonsynonymous SNV	exon6	c.T727C	p.S243P	AVSEKKAKGLGESRKDKK	AVSEKKAKGLGEPRKDKK	4.0	10.0	-	-	4284_1:161275686-161275686 A>G_AVSEKKAKGLGEPRKDKK
5:13753505-13753505 G>T	0.0	4284	COLORECTAL	-	-	-	-	DNAH5	uc003jfd.2,p.A3570D|ENST00000265104,p.A3570D|NM_001369,p.A3570D	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon63	c.C10709A	p.A3570D	GKNLNLSEMLIDAPTISEWNLQGLP	GKNLNLSEMLIDDPTISEWNLQGLP	5.0	4.0	-	-	4284_5:13753505-13753505 G>T_GKNLNLSEMLIDDPTISEWNLQGLP
2:169783670-169783670 G>A	0.0	4284	COLORECTAL	-	-	-	-	ABCB11	NM_003742,p.P1205L|uc010zda.1,p.P623L|uc002ueo.1,p.P1205L|ENST00000263817,p.P1205L|uc010zdb.1,p.P681L	retained_intron, protein_coding, nonsense_mediated_decay	uc010zdb.1	nonsynonymous SNV	exon13	c.C2042T	p.P681L	KQAQLHDFVMSLPEKYETNVGSQGS	KQAQLHDFVMSLLEKYETNVGSQGS	3.0	6.0	-	-	4284_2:169783670-169783670 G>A_KQAQLHDFVMSLLEKYETNVGSQGS
13:100020080-100020080 C>T	1.0	4284	COLORECTAL	-	-	ID=COSM944954;OCCURENCE=1(endometrium)	-	UBAC2	NM_177967,p.R248C|ENST00000355700,p.R149C|NM_001144072,p.R283C|uc010tiu.2,p.R305C|uc001voa.4,p.R283C|uc001vod.3,p.R170C|ENST00000376440,p.R248C|uc001voc.3,p.R248C|uc001voh.3,p.R87C|uc001vob.4,p.R256C|ENST00000403766,p.R283C	protein_coding, processed_transcript	uc010tiu.2	nonsynonymous SNV	exon8	c.C913T	p.R305C	GMINWNRLFPPLRQRQNVNYQGGRQ	GMINWNRLFPPLCQRQNVNYQGGRQ	10.0	3.0	-	-	4284_13:100020080-100020080 C>T_GMINWNRLFPPLCQRQNVNYQGGRQ
12:49425702-49425702 T>G	1.0	4284	COLORECTAL	-	-	-	1	KMT2D	NM_003482,p.Q4262H|ENST00000301067,p.Q4262H|uc001rta.4,p.Q4262H	retained_intron, protein_coding, processed_transcript	uc001rta.4	nonsynonymous SNV	exon39	c.A12786C	p.Q4262H	TSPLQGLLGCQPQLGGFPGPQTGPL	TSPLQGLLGCQPHLGGFPGPQTGPL	9.0	4.0	-	-	4284_12:49425702-49425702 T>G_TSPLQGLLGCQPHLGGFPGPQTGPL
8:32621289-32621289 C>A	0.0	4284	COLORECTAL	-	-	-	1	NRG1	ENST00000356819,p.P436Q|uc011lbh.1,p.P274Q|uc003xja.2,p.P242Q|ENST00000518104,p.P398Q|uc003xiw.2,p.P428Q|ENST00000287845,p.P402Q|ENST00000405005,p.P431Q|uc010lvr.2,p.P173Q|ENST00000523534,p.P504Q|ENST00000287842,p.P428Q|NM_013956,p.P436Q|NM_013957,p.P428Q|ENST00000338921,p.P439Q|uc010lvs.2,p.P173Q|NM_013964,p.P431Q|uc003xiv.2,p.P431Q|ENST00000287840,p.P431Q|ENST00000519301,p.P381Q|uc003xiu.2,p.P436Q|uc022ats.1,p.P381Q|ENST00000539990,p.P274Q	retained_intron, protein_coding, processed_transcript	uc022ats.1	nonsynonymous SNV	exon11	c.C1142A	p.P381Q	PHSERYVSAMTTPARMSPVDFHTPS	PHSERYVSAMTTQARMSPVDFHTPS	5.0	7.0	-	-	4284_8:32621289-32621289 C>A_PHSERYVSAMTTQARMSPVDFHTPS
3:195512767-195512767 T>G	1.0	4284	COLORECTAL	-	rs2641778	-	2	MUC4	ENST00000466475,p.N1895T|ENST00000478156,p.N1895T|ENST00000479406,p.N1895T|ENST00000477086,p.N1895T|ENST00000477756,p.N1895T|ENST00000470451,p.N1895T|ENST00000475231,p.N1895T|ENST00000462323,p.N1895T|ENST00000480843,p.N1895T|uc021xjp.1,p.N1895T|ENST00000463781,p.N1895T|NM_018406,p.N1895T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.A5684C	p.N1895T	TGDTTPLPVTDTNSASTGDTTPLHV	TGDTTPLPVTDTTSASTGDTTPLHV	7.0	1.0	unscreened	-	4284_3:195512767-195512767 T>G_TGDTTPLPVTDTTSASTGDTTPLHV
5:79733386-79733386 A>T	1.0	4284	COLORECTAL	-	-	-	-	ZFYVE16	uc003kgp.3,p.K294N|uc010jak.2,p.K294N|ENST00000338008,p.K294N|ENST00000510158,p.K294N|NM_001284236,p.K294N|uc003kgq.4,p.K294N|uc003kgs.4,p.K294N|NM_014733,p.K294N|NM_001105251,p.K294N|ENST00000505560,p.K294N|uc003kgr.4,p.K294N|NM_001284237,p.K294N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jak.2	nonsynonymous SNV	exon3	c.A882T	p.K294N	VDVAVITAAECLKEEGKTSALTCSL	VDVAVITAAECLNEEGKTSALTCSL	8.0	7.0	-	-	4284_5:79733386-79733386 A>T_VDVAVITAAECLNEEGKTSALTCSL
7:57528861-57528862 AA>-	0.0	4284	COLORECTAL	-	-	-	-	ZNF716	ENST00000420713,p.K232fs|uc011kdi.1,p.K232fs|NM_001159279,p.K232fs	protein_coding	uc011kdi.1	frameshift deletion	exon4	c.694_695del	p.K232fs	KSFNCSSTLTRHKRIHTGEKPYRCE	KSFNCSSTLTRHKNSYWRETLQM	4.0	8.0	-	-	4284_7:57528861-57528862 AA>-_KSFNCSSTLTRHKNSYWRETLQM
19:49378136-49378136 C>G	1.0	4284	COLORECTAL	-	-	-	-	PPP1R15A	NM_014330,p.T549S|ENST00000200453,p.T549S|uc002pky.4,p.T549S	protein_coding	uc002pky.4	nonsynonymous SNV	exon2	c.C1646G	p.T549S	RPETPTHDPDPETPLKARKVRFSEK	RPETPTHDPDPESPLKARKVRFSEK	8.0	4.0	-	-	4284_19:49378136-49378136 C>G_RPETPTHDPDPESPLKARKVRFSEK
3:16638288-16638288 ->T	0.0	4284	COLORECTAL	-	-	-	-	DAZL	ENST00000399444,p.T156fs|uc003cbb.3,p.T156fs|uc003cba.3,p.T176fs|NM_001351,p.T156fs|NM_001190811,p.T176fs|ENST00000250863,p.T176fs	protein_coding	uc003cbb.3	frameshift insertion	exon6	c.466dupA	p.T156fs	TNPNTETYMQPTTTMNPITQYVQAY	TNPNTETYMQPTNHDESYNSVCSGISYLPKFTSSGHHWISVACI	1.0	5.0	-	-	4284_3:16638288-16638288 ->T_TNPNTETYMQPTNHDESYNSVCSGISYLPKFTSSGHHWISVACI
9:139350568-139350568 T>G	1.0	4284	COLORECTAL	-	-	-	-	SEC16A	ENST00000313050,p.E1867D|uc004chv.4,p.E1257D|uc004chx.3,p.E1867D|uc004chw.3,p.E1867D|NM_014866,p.E1867D|NM_001276418,p.E1867D|ENST00000290037,p.E1689D|ENST00000277537,p.E261D|ENST00000371706,p.E1689D|uc010nbn.3,p.E1867D|ENST00000453963,p.E589D|ENST00000431893,p.E1689D|uc004chu.3,p.E52D	protein_coding, processed_transcript	uc010nbn.3	nonsynonymous SNV	exon18	c.A5601C	p.E1867D	LRLFDPQLKEKPEEESLAAPTWLVH	LRLFDPQLKEKPDEESLAAPTWLVH	8.0	6.0	-	-	4284_9:139350568-139350568 T>G_LRLFDPQLKEKPDEESLAAPTWLVH
11:9519272-9519272 C>T	1.0	4284	COLORECTAL	-	-	-	-	ZNF143	uc010rby.2,p.R267W|NM_003442,p.R298W|uc001mhr.3,p.R298W|ENST00000299606,p.R270W|NM_001282656,p.R297W|ENST00000530463,p.R297W|ENST00000396597,p.R267W|uc009yfu.3,p.R297W|NM_001282657,p.R267W|ENST00000396604,p.R297W|ENST00000396602,p.R298W	retained_intron, protein_coding, nonsense_mediated_decay	uc010rby.2	nonsynonymous SNV	exon9	c.C799T	p.R267W	SHVRTHTGEKPYRCSEDNCTKSFKT	SHVRTHTGEKPYWCSEDNCTKSFKT	9.0	9.0	-	-	4284_11:9519272-9519272 C>T_SHVRTHTGEKPYWCSEDNCTKSFKT
8:3063133-3063133 C>A	0.0	4284	COLORECTAL	-	-	-	-	CSMD1	ENST00000537824,p.G1626V|NM_033225,p.G1626V|uc022aqr.1,p.G1626V|ENST00000539096,p.G1626V|ENST00000520002,p.G1627V|ENST00000542608,p.G1626V|ENST00000602723,p.G1627V|uc003wqe.3,p.G783V|uc011kwj.2,p.G1019V|ENST00000400186,p.G1627V|ENST00000602557,p.G1627V	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon31	c.G4877T	p.G1626V	WDQVLPSCNAPCGGQYTGSEGVVLS	WDQVLPSCNAPCVGQYTGSEGVVLS	2.0	2.0	-	-	4284_8:3063133-3063133 C>A_WDQVLPSCNAPCVGQYTGSEGVVLS
2:96523194-96523194 A>C	1.0	4284	COLORECTAL	-	rs62156909	-	-	LINC00342,FAHD2CP	ENST00000420871,p.L566V|uc002suz.1,p.L342V|ENST00000456556,p.L1315V|ENST00000419039,p.L342V	retained_intron, protein_coding, nonsense_mediated_decay	uc002suz.1	nonsynonymous SNV	exon30	c.T1024G	p.L342V	QQEKKKRRNVEELHQKVREKLRITE	QQEKKKRRNVEEVHQKVREKLRITE	9.0	7.0	unscreened	-	4284_2:96523194-96523194 A>C_QQEKKKRRNVEEVHQKVREKLRITE
10:26506796-26506798 GCC>-	0.0	4284	COLORECTAL	-	-	-	-	GAD2	uc001isq.2,p.54_55del|NM_001134366,p.54_55del|ENST00000376261,p.54_55del|uc001isp.2,p.54_55del|uc009xkr.3,p.54_55del|NM_000818,p.54_55del|ENST00000259271,p.54_55del|ENST00000428517,p.54_55del	protein_coding	uc009xkr.3	nonframeshift deletion	exon3	c.162_164del	p.54_55del	NKLCALLYGDAEKPAESGGSQPPRA	NKLCALLYGDAEKAESGGSQPPRAA	3.0	2.0	-	-	4284_10:26506796-26506798 GCC>-_NKLCALLYGDAEKAESGGSQPPRAA
1:39926427-39926427 A>T	1.0	4284	COLORECTAL	-	-	-	-	MACF1	uc021olt.1,p.I5103L|ENST00000545844,p.I5103L|ENST00000317713,p.I5103L|ENST00000564288,p.I7162L|ENST00000361689,p.I5103L|ENST00000539005,p.I4973L|ENST00000372915,p.I7061L|NM_012090,p.I5103L|ENST00000289893,p.I5605L|ENST00000567887,p.I7199L|uc031pme.1,p.I1159L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pme.1	nonsynonymous SNV	exon22	c.A3475T	p.I1159L	FFRRIDKDQDGKITRQEFIDGILAS	FFRRIDKDQDGKLTRQEFIDGILAS	10.0	8.0	-	-	4284_1:39926427-39926427 A>T_FFRRIDKDQDGKLTRQEFIDGILAS
19:58189982-58189982 G>T	0.0	4284	COLORECTAL	-	-	-	-	ZSCAN4	ENST00000318203,p.E337D|NM_152677,p.E337D|uc002qpu.3,p.E337D	protein_coding	uc002qpu.3	nonsynonymous SNV	exon5	c.G1011T	p.E337D	CHLLAHQRRHRNERPFVCPECQKGF	CHLLAHQRRHRNDRPFVCPECQKGF	1.0	7.0	-	-	4284_19:58189982-58189982 G>T_CHLLAHQRRHRNDRPFVCPECQKGF
5:143853344-143853344 G>T	0.0	4284	COLORECTAL	-	-	-	-	KCTD16	ENST00000507359,p.Q318H|NM_020768,p.Q318H|uc003lnm.1,p.Q318H|uc003lnn.1,p.Q318H|ENST00000512467,p.Q318H	protein_coding	uc003lnn.1	nonsynonymous SNV	exon3	c.G954T	p.Q318H	SCNDLSTSSCDSQSEASSPQETVIC	SCNDLSTSSCDSHSEASSPQETVIC	2.0	1.0	-	-	4284_5:143853344-143853344 G>T_SCNDLSTSSCDSHSEASSPQETVIC
15:65443207-65443207 A>C	1.0	4284	COLORECTAL	-	-	-	-	CLPX	uc002aom.3,p.V619G|NM_006660,p.V619G|ENST00000300107,p.V619G	retained_intron, protein_coding, nonsense_mediated_decay	uc002aom.3	nonsynonymous SNV	exon14	c.T1856G	p.V619G	TKESSEEEYDSGVEEEGWPRQADAA	TKESSEEEYDSGGEEEGWPRQADAA	9.0	2.0	-	-	4284_15:65443207-65443207 A>C_TKESSEEEYDSGGEEEGWPRQADAA
4:77662468-77662468 C>T	1.0	4284	COLORECTAL	-	-	-	-	SHROOM3	uc011cbx.2,p.R1048C|uc011cbz.1,p.R872C|uc003hkg.3,p.R826C|NM_020859,p.R1048C|ENST00000296043,p.R1048C|uc003hkf.1,p.R923C	retained_intron, protein_coding, processed_transcript	uc011cbz.1	nonsynonymous SNV	exon4	c.C2614T	p.R872C	EPAPLGPQRNGMRFPESSVADRRRL	EPAPLGPQRNGMCFPESSVADRRRL	9.0	8.0	-	-	4284_4:77662468-77662468 C>T_EPAPLGPQRNGMCFPESSVADRRRL
1:180905783-180905783 C>T	0.0	4284	COLORECTAL	-	-	-	-	KIAA1614	ENST00000367588,p.P913L|uc001gol.1,p.P534L|ENST00000367587,p.P534L|uc001gok.2,p.P913L|NM_020950,p.P913L	protein_coding, processed_transcript	uc001gol.1	nonsynonymous SNV	exon2	c.C1601T	p.P534L	RVERGPCSREPEPPLENSRDGGPQG	RVERGPCSREPELPLENSRDGGPQG	4.0	9.0	-	-	4284_1:180905783-180905783 C>T_RVERGPCSREPELPLENSRDGGPQG
10:116050989-116050989 G>A	1.0	4284	COLORECTAL	-	-	-	-	VWA2	ENST00000392982,p.R754H|uc001lbl.2,p.R754H|NM_001272046,p.R754H	protein_coding	uc001lbl.2	nonsynonymous SNV	exon14	c.G2261A	p.R754H	WEGPHCENRFLRRP	WEGPHCENRFLRHP	7.0	9.0	-	-	4284_10:116050989-116050989 G>A_WEGPHCENRFLRHP
10:50028330-50028330 G>A	1.0	4284	COLORECTAL	-	-	-	-	WDFY4	uc001jhb.1,p.E381K|uc001jha.4,p.E1853K|ENST00000325239,p.E1853K|NM_020945,p.E1853K	protein_coding, processed_transcript	uc001jhb.1	nonsynonymous SNV	exon10	c.G1141A	p.E381K	STRNTSSPEAAAEGDSTVEGLQAPT	STRNTSSPEAAAKGDSTVEGLQAPT	6.0	8.0	-	-	4284_10:50028330-50028330 G>A_STRNTSSPEAAAKGDSTVEGLQAPT
12:21593382-21593382 G>T	0.0	4284	COLORECTAL	-	-	-	-	PYROXD1	uc001rew.3,p.Q55H|ENST00000545178,p.Q55H|NM_024854,p.Q55H|ENST00000240651,p.Q55H|ENST00000544970,p.Q55H|ENST00000543476,p.Q55H	retained_intron, protein_coding, nonsense_mediated_decay	uc001rew.3	nonsynonymous SNV	exon2	c.G165T	p.Q55H	ASPVIKAVTNFKQISKILEEFDVEE	ASPVIKAVTNFKHISKILEEFDVEE	7.0	6.0	-	-	4284_12:21593382-21593382 G>T_ASPVIKAVTNFKHISKILEEFDVEE
8:133837541-133837541 G>A	1.0	4284	COLORECTAL	-	-	-	-	PHF20L1	ENST00000395390,p.E532K|NM_016018,p.E557K|ENST00000395386,p.E557K|uc003ytt.3,p.E557K|uc011lja.2,p.E531K|NM_001277196,p.E531K	retained_intron, protein_coding, nonsense_mediated_decay	uc011lja.2	nonsynonymous SNV	exon13	c.G1591A	p.E531K	FGKRKEKDKERREKRDKDHYRPKQK	FGKRKEKDKERRKKRDKDHYRPKQK	9.0	2.0	-	-	4284_8:133837541-133837541 G>A_FGKRKEKDKERRKKRDKDHYRPKQK
2:71205921-71205921 C>G	1.0	4284	COLORECTAL	-	-	-	-	ANKRD53	ENST00000457410,p.T49S|ENST00000441349,p.T49S	retained_intron, protein_coding	ENST00000457410	nonsynonymous SNV	exon1	c.C146G	p.T49S	QQANKVSLKATWTDAESKQPSPSKE	QQANKVSLKATWSDAESKQPSPSKE	4.0	9.0	-	-	4284_2:71205921-71205921 C>G_QQANKVSLKATWSDAESKQPSPSKE
2:71205921-71205921 C>G	1.0	4284	COLORECTAL	-	-	-	-	ANKRD53	ENST00000360589,p.T49S|NM_024933,p.T49S|NM_001115116,p.T49S|uc002shk.4,p.T49S|ENST00000272421,p.T49S|uc002shl.4,p.T49S	retained_intron, protein_coding	uc002shl.4	nonsynonymous SNV	exon1	c.C146G	p.T49S	QQANKVSLKATWTDAESKQPSQPLP	QQANKVSLKATWSDAESKQPSQPLP	4.0	9.0	-	-	4284_2:71205921-71205921 C>G_QQANKVSLKATWSDAESKQPSQPLP
17:74288268-74288268 A>T	0.0	4284	COLORECTAL	-	rs6501874	-	-	QRICH2	uc002jrd.1,p.V681D|ENST00000262765,p.V681D|NM_032134,p.V681D	protein_coding, nonsense_mediated_decay	uc002jrd.1	nonsynonymous SNV	exon4	c.T2042A	p.V681D	GAVQRGLVQPGAVQHGLVQPGADQR	GAVQRGLVQPGADQHGLVQPGADQR	5.0	2.0	unscreened	-	4284_17:74288268-74288268 A>T_GAVQRGLVQPGADQHGLVQPGADQR
10:13652120-13652120 G>C	1.0	4284	COLORECTAL	-	-	-	-	PRPF18	ENST00000320054,p.G134R|uc001imp.3,p.G149R|ENST00000378572,p.G149R|ENST00000417658,p.G143R|NM_003675,p.G149R	protein_coding	uc001imp.3	nonsynonymous SNV	exon5	c.G445C	p.G149R	QYLNEIVGGQEPGEEDTQNDLKVHE	QYLNEIVGGQEPREEDTQNDLKVHE	7.0	2.0	-	-	4284_10:13652120-13652120 G>C_QYLNEIVGGQEPREEDTQNDLKVHE
1:32157019-32157019 G>A	1.0	4284	COLORECTAL	-	-	-	-	COL16A1	uc001btk.1,p.P466L|ENST00000373668,p.P466L|uc001btj.1,p.P295L|ENST00000373672,p.P466L|NM_001856,p.P466L|ENST00000271069,p.P466L|ENST00000373667,p.P185L|uc001btl.4,p.P466L	retained_intron, protein_coding, processed_transcript	uc001btl.4	nonsynonymous SNV	exon19	c.C1397T	p.P466L	LPGPPGIGLPGTPGDPGGPPGPKGD	LPGPPGIGLPGTLGDPGGPPGPKGD	7.0	2.0	-	-	4284_1:32157019-32157019 G>A_LPGPPGIGLPGTLGDPGGPPGPKGD
5:11117597-11117597 G>C	0.0	4284	COLORECTAL	-	-	-	2	CTNND2	uc011cmz.1,p.Q315E|ENST00000359640,p.Q748E|NM_001288717,p.Q315E|NM_001288715,p.Q657E|ENST00000304623,p.Q748E|ENST00000511377,p.Q657E|uc011cmx.1,p.Q315E|ENST00000503622,p.Q411E|ENST00000458100,p.Q315E|uc010itt.2,p.Q657E|uc003jfa.1,p.Q748E|ENST00000513588,p.Q502E|NM_001332,p.Q748E|NM_001288716,p.Q411E|uc011cmy.1,p.Q411E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cmz.1	nonsynonymous SNV	exon12	c.C943G	p.Q315E	CDGLTDALLYVIQSALGSSEIDSKT	CDGLTDALLYVIESALGSSEIDSKT	3.0	2.0	-	-	4284_5:11117597-11117597 G>C_CDGLTDALLYVIESALGSSEIDSKT
14:100182495-100182495 A>T	0.0	4284	COLORECTAL	-	-	-	-	CYP46A1	ENST00000556313,p.D42V|uc001ygo.3,p.D289V|uc031qql.1,p.D182V|ENST00000423126,p.D192V|ENST00000261835,p.D289V|NM_006668,p.D289V|ENST00000554176,p.D136V|uc001ygp.3,p.D136V	retained_intron, protein_coding, nonsense_mediated_decay	uc031qql.1	nonsynonymous SNV	exon9	c.A545T	p.D182V	TQILKAEEGAQDDEGLLDNFVTFFI	TQILKAEEGAQDVEGLLDNFVTFFI	2.0	3.0	unscreened	-	4284_14:100182495-100182495 A>T_TQILKAEEGAQDVEGLLDNFVTFFI
12:75816743-75816743 G>A	0.0	4284	COLORECTAL	-	-	-	-	GLIPR1L2	ENST00000320460,p.R215H|NM_152436,p.R215H|uc001sxp.2,p.R215H	protein_coding	uc001sxp.2	nonsynonymous SNV	exon4	c.G644A	p.R215H	YEPGIFCTRCGRRDKCTDFLCSKIK	YEPGIFCTRCGRHDKCTDFLCSKIK	4.0	7.0	unscreened	-	4284_12:75816743-75816743 G>A_YEPGIFCTRCGRHDKCTDFLCSKIK
9:18829936-18829936 A>C	0.0	4284	COLORECTAL	-	-	-	-	ADAMTSL1	ENST00000380548,p.T1404P|ENST00000388710,p.T105P|uc003zne.4,p.T1404P|ENST00000542621,p.T105P|ENST00000380545,p.T105P|uc003znf.4,p.T105P|NM_001040272,p.T1404P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003znf.4	nonsynonymous SNV	exon2	c.A313C	p.T105P	PNLPSVLTSPLGTQLVLDPGNSALL	PNLPSVLTSPLGPQLVLDPGNSALL	5.0	4.0	unscreened	-	4284_9:18829936-18829936 A>C_PNLPSVLTSPLGPQLVLDPGNSALL
19:12985670-12985670 C>T	0.0	4284	COLORECTAL	-	-	-	-	MAST1	uc002mvm.3,p.P1567S|NM_014975,p.P1567S|ENST00000251472,p.P1567S	retained_intron, protein_coding	uc002mvm.3	nonsynonymous SNV	exon26	c.C4699T	p.P1567S	AGLTKKGVSSPAPPGP	AGLTKKGVSSPASPGP	5.0	9.0	-	-	4284_19:12985670-12985670 C>T_AGLTKKGVSSPASPGP
8:7807627-7807627 T>A	0.0	4284	COLORECTAL	-	-	-	-	ZNF705B	ENST00000443676,p.V71E|NM_001193630,p.V71E|uc010lro.1,p.V71E|ENST00000400120,p.V71E	protein_coding	uc010lro.1	nonsynonymous SNV	exon5	c.T212A	p.V71E	LEQGKELWWEGRVFLQDQNPDRESA	LEQGKELWWEGREFLQDQNPDRESA	3.0	6.0	-	-	4284_8:7807627-7807627 T>A_LEQGKELWWEGREFLQDQNPDRESA
2:152695789-152695789 C>G	1.0	4284	COLORECTAL	-	-	-	-	CACNB4	ENST00000201943,p.K407N|uc002txz.3,p.K451N|uc002txy.3,p.K435N|NM_000726,p.K469N|NM_001005747,p.K435N|ENST00000539935,p.K469N|ENST00000534999,p.K435N|ENST00000427385,p.K451N|ENST00000439467,p.K464N|ENST00000397327,p.K422N|uc002tya.3,p.K469N|ENST00000360283,p.K436N|NM_001145798,p.K407N|NM_001005746,p.K451N|uc010fnz.3,p.K407N	retained_intron, protein_coding, processed_transcript	uc010fnz.3	nonsynonymous SNV	exon13	c.G1221C	p.K407N	TSDENYHNERARKSRNRLSSSSQHS	TSDENYHNERARNSRNRLSSSSQHS	4.0	5.0	-	-	4284_2:152695789-152695789 C>G_TSDENYHNERARNSRNRLSSSSQHS
8:133837515-133837515 G>C	1.0	4284	COLORECTAL	-	-	-	-	PHF20L1	uc011lja.2,p.R522T|uc003ytt.3,p.R548T|ENST00000395386,p.R548T|NM_016018,p.R548T|NM_001277196,p.R522T|ENST00000395390,p.R523T	retained_intron, protein_coding, nonsense_mediated_decay	uc011lja.2	nonsynonymous SNV	exon13	c.G1565C	p.R522T	KLEDKSSTAFGKRKEKDKERREKRD	KLEDKSSTAFGKTKEKDKERREKRD	9.0	2.0	-	-	4284_8:133837515-133837515 G>C_KLEDKSSTAFGKTKEKDKERREKRD
1:53925394-53925394 G>A	1.0	4284	COLORECTAL	-	-	-	-	DMRTB1	uc001cvq.1,p.V90I|ENST00000371445,p.V90I|NM_033067,p.V90I	protein_coding, processed_transcript	uc001cvq.1	nonsynonymous SNV	exon1	c.G268A	p.V90I	SGAAAAAPAPVPVPAASLRPLSPGT	SGAAAAAPAPVPIPAASLRPLSPGT	4.0	7.0	-	-	4284_1:53925394-53925394 G>A_SGAAAAAPAPVPIPAASLRPLSPGT
8:89209493-89209493 T>C	0.0	4284	COLORECTAL	-	-	-	-	MMP16	NM_005941,p.R59G|ENST00000286614,p.R59G|ENST00000522726,p.R76G|uc003yeb.4,p.R59G	retained_intron, protein_coding, processed_transcript	uc003yeb.4	nonsynonymous SNV	exon2	c.A175G	p.R59G	LQKYGYLPPTDPRMSVLRSAETMQS	LQKYGYLPPTDPGMSVLRSAETMQS	5.0	4.0	-	-	4284_8:89209493-89209493 T>C_LQKYGYLPPTDPGMSVLRSAETMQS
4:79832213-79832213 A>C	1.0	4284	COLORECTAL	-	-	-	-	BMP2K	ENST00000335016,p.T838P|uc003hlk.3,p.T838P|NM_198892,p.T838P	retained_intron, protein_coding, nonsense_mediated_decay	uc003hlk.3	nonsynonymous SNV	exon16	c.A2512C	p.T838P	SGPTQDLNTILLTSAQLSSDVAVET	SGPTQDLNTILLPSAQLSSDVAVET	10.0	4.0	-	-	4284_4:79832213-79832213 A>C_SGPTQDLNTILLPSAQLSSDVAVET
8:13424951-13424951 C>T	0.0	4284	COLORECTAL	-	-	-	-	C8orf48	uc003wwp.3,p.H151Y|ENST00000297324,p.H151Y|NM_001007090,p.H151Y	protein_coding	uc003wwp.3	nonsynonymous SNV	exon1	c.C451T	p.H151Y	SKKKTSSRHKKLHLGLDVEASERDA	SKKKTSSRHKKLYLGLDVEASERDA	2.0	5.0	-	-	4284_8:13424951-13424951 C>T_SKKKTSSRHKKLYLGLDVEASERDA
19:17692118-17692118 C>G	1.0	4284	COLORECTAL	-	-	-	-	COLGALT1	uc002nhc.1,p.N578K|ENST00000252599,p.N578K|NM_024656,p.N578K	retained_intron, protein_coding, processed_transcript	uc002nhc.1	nonsynonymous SNV	exon12	c.C1734G	p.N578K	GYVSDTETSVVWNNEHVKTDWDRAK	GYVSDTETSVVWKNEHVKTDWDRAK	9.0	6.0	-	-	4284_19:17692118-17692118 C>G_GYVSDTETSVVWKNEHVKTDWDRAK
20:43726631-43726631 C>T	0.0	4284	COLORECTAL	-	-	-	-	KCNS1	uc002xnd.3,p.R261H|uc002xnc.3,p.R261H|ENST00000537075,p.R261H|NM_002251,p.R261H|ENST00000306117,p.R261H	protein_coding	uc002xnd.3	nonsynonymous SNV	exon3	c.G782A	p.R261H	EAAAAVAAVAAGRSPEGVRDDPVLR	EAAAAVAAVAAGHSPEGVRDDPVLR	4.0	2.0	-	-	4284_20:43726631-43726631 C>T_EAAAAVAAVAAGHSPEGVRDDPVLR
16:31150698-31150699 CT>-	0.0	4284	COLORECTAL	-	-	-	-	PRSS36	NM_173502,p.E776fs|NM_001258290,p.E771fs|uc010vfg.3,p.E771fs|uc010vfh.3,p.E673fs|uc002ebd.4,p.E776fs|uc010vff.3,p.E551fs|NM_001258291,p.E673fs|ENST00000569305,p.E771fs|ENST00000418068,p.E673fs|ENST00000268281,p.E776fs	retained_intron, protein_coding, nonsense_mediated_decay	uc010vfh.3	frameshift deletion	exon14	c.2019_2020del	p.E673fs	MTSAPPLLCQMTEGSWILVGMAVQG	MTSAPPLLCQMTEVLDPRGHGCSREPGAVCCHWS	5.0	4.0	unscreened	-	4284_16:31150698-31150699 CT>-_MTSAPPLLCQMTEVLDPRGHGCSREPGAVCCHWS
11:44639862-44639862 G>A	1.0	4284	COLORECTAL	-	-	-	-	CD82	NM_001024844,p.G172S|uc001myd.3,p.G172S|ENST00000524750,p.G15S|ENST00000227155,p.G197S|NM_002231,p.G197S|ENST00000342935,p.G172S|uc001myc.3,p.G197S	retained_intron, protein_coding, processed_transcript	uc001myd.3	nonsynonymous SNV	exon7	c.G514A	p.G172S	SLSVRKGFCEAPGNRTQSGNHPEDW	SLSVRKGFCEAPSNRTQSGNHPEDW	10.0	8.0	-	-	4284_11:44639862-44639862 G>A_SLSVRKGFCEAPSNRTQSGNHPEDW
12:75816743-75816743 G>A	0.0	4284	COLORECTAL	-	-	-	-	GLIPR1L2	uc001sxr.2,p.R215H|NM_001270396,p.R215H|ENST00000378692,p.R108H|uc001sxq.2,p.R108H|ENST00000441218,p.R150H|ENST00000550916,p.R215H	protein_coding	uc001sxr.2	nonsynonymous SNV	exon4	c.G644A	p.R215H	YEPGIFCTRCGRRDKCTDFLCSNAD	YEPGIFCTRCGRHDKCTDFLCSNAD	4.0	7.0	-	-	4284_12:75816743-75816743 G>A_YEPGIFCTRCGRHDKCTDFLCSNAD
X:73961321-73961321 T>A	0.0	4284	COLORECTAL	-	-	-	-	KIAA2022	ENST00000055682,p.D1024V|NM_001008537,p.D1024V|ENST00000373468,p.D1024V|uc004eby.3,p.D1024V	protein_coding	uc004eby.3	nonsynonymous SNV	exon3	c.A3071T	p.D1024V	KSCEKDGDDDITDDFLAHCSPKLVI	KSCEKDGDDDITVDFLAHCSPKLVI	2.0	6.0	-	-	4284_X:73961321-73961321 T>A_KSCEKDGDDDITVDFLAHCSPKLVI
2:174227970-174227970 G>C	1.0	4284	COLORECTAL	-	-	-	-	CDCA7	NM_145810,p.R55P|ENST00000347703,p.R55P|ENST00000392567,p.R55P|uc002uid.1,p.R55P	retained_intron, protein_coding, nonsense_mediated_decay	uc002uid.1	nonsynonymous SNV	exon3	c.G164C	p.R55P	SDNFANTRLQSVREGCRTRSQCRHS	SDNFANTRLQSVPEGCRTRSQCRHS	10.0	7.0	-	-	4284_2:174227970-174227970 G>C_SDNFANTRLQSVPEGCRTRSQCRHS
6:114378489-114378489 G>A	0.0	4284	COLORECTAL	-	-	ID=COSM1072326;OCCURENCE=2(endometrium),1(large_intestine)	-	HS3ST5	uc003pwh.4,p.R325C|uc003pwg.4,p.R325C|NM_153612,p.R325C|ENST00000312719,p.R325C|ENST00000411826,p.R325C	protein_coding, processed_transcript	uc003pwh.4	nonsynonymous SNV	exon5	c.C973T	p.R325C	HPEVDPSVITKLRKFFHPFNQKFYQ	HPEVDPSVITKLCKFFHPFNQKFYQ	2.0	5.0	-	-	4284_6:114378489-114378489 G>A_HPEVDPSVITKLCKFFHPFNQKFYQ
14:100182494-100182494 G>A	0.0	4284	COLORECTAL	-	-	ID=COSM175680;OCCURENCE=1(large_intestine)	-	CYP46A1	uc001ygo.3,p.D289N|NM_006668,p.D289N|ENST00000556313,p.D42N|ENST00000423126,p.D192N|ENST00000554176,p.D136N|uc001ygp.3,p.D136N|uc031qql.1,p.D182N|ENST00000261835,p.D289N	retained_intron, protein_coding, nonsense_mediated_decay	uc031qql.1	nonsynonymous SNV	exon9	c.G544A	p.D182N	TQILKAEEGAQDDEGLLDNFVTFFI	TQILKAEEGAQDNEGLLDNFVTFFI	2.0	3.0	unscreened	-	4284_14:100182494-100182494 G>A_TQILKAEEGAQDNEGLLDNFVTFFI
2:174227970-174227970 G>C	1.0	4284	COLORECTAL	-	-	-	-	CDCA7	NM_031942,p.R134P|uc002uic.1,p.R134P|ENST00000410101,p.R90P|ENST00000306721,p.R134P|uc010zej.1,p.R90P	retained_intron, protein_coding, nonsense_mediated_decay	uc010zej.1	nonsynonymous SNV	exon4	c.G269C	p.R90P	SEIQDGMRLQSVREGCRTRSQCRHS	SEIQDGMRLQSVPEGCRTRSQCRHS	10.0	7.0	-	-	4284_2:174227970-174227970 G>C_SEIQDGMRLQSVPEGCRTRSQCRHS
14:23816828-23816828 C>T	1.0	4284	COLORECTAL	-	-	-	-	SLC22A17	ENST00000206544,p.V353I|uc001wjl.3,p.V353I|ENST00000397267,p.V353I|uc001wjm.3,p.V353I|NM_020372,p.V353I|uc010akk.3,p.V135I|ENST00000354772,p.V353I|NM_016609,p.V353I|ENST00000397260,p.V242I|NM_001289050,p.V135I	retained_intron, protein_coding, processed_transcript	uc010akk.3	nonsynonymous SNV	exon7	c.G403A	p.V135I	SLLASGTAALACVFLGVTVDRFGRR	SLLASGTAALACIFLGVTVDRFGRR	6.0	6.0	-	-	4284_14:23816828-23816828 C>T_SLLASGTAALACIFLGVTVDRFGRR
17:42992432-42992432 C>A	0.0	4284	COLORECTAL	-	-	-	-	GFAP	uc021tyh.1,p.R141S|uc002ihr.3,p.R141S|NM_002055,p.R141S|ENST00000588316,p.R141S|ENST00000588037,p.R141S|ENST00000435360,p.R141S|ENST00000592320,p.R141S|ENST00000253408,p.R141S|ENST00000586793,p.R141S|uc002ihq.3,p.R141S|ENST00000376990,p.R141S|NM_001242376,p.R141S|NM_001131019,p.R141S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021tyh.1	nonsynonymous SNV	exon1	c.G423T	p.R141S	QLTANSARLEVERDNLAQDLATVRQ	QLTANSARLEVESDNLAQDLATVRQ	3.0	6.0	-	-	4284_17:42992432-42992432 C>A_QLTANSARLEVESDNLAQDLATVRQ
6:26217246-26217246 C>A	1.0	4284	COLORECTAL	-	-	-	-	HIST1H2AE	ENST00000303910,p.A15D|uc003nha.1,p.A15D|NM_021052,p.A15D	protein_coding	uc003nha.1	nonsynonymous SNV	exon1	c.C44A	p.A15D	GRGKQGGKARAKAKTRSSRAGLQFP	GRGKQGGKARAKDKTRSSRAGLQFP	10.0	5.0	-	-	4284_6:26217246-26217246 C>A_GRGKQGGKARAKDKTRSSRAGLQFP
5:33576635-33576635 G>A	0.0	4284	COLORECTAL	-	-	-	-	ADAMTS12	NM_030955,p.P1166S|uc010iuq.1,p.P1081S|uc003jia.1,p.P1166S|ENST00000352040,p.P1081S|ENST00000504830,p.P1166S	protein_coding, processed_transcript	uc010iuq.1	nonsynonymous SNV	exon17	c.C3241T	p.P1081S	EIHSGSGEEREQPEDKDESNPVIWT	EIHSGSGEEREQSEDKDESNPVIWT	7.0	3.0	-	-	4284_5:33576635-33576635 G>A_EIHSGSGEEREQSEDKDESNPVIWT
5:23524619-23524619 A>G	1.0	4284	COLORECTAL	-	-	-	-	PRDM9	ENST00000296682,p.E376G|NM_020227,p.E376G|uc003jgo.3,p.E376G	protein_coding	uc003jgo.3	nonsynonymous SNV	exon10	c.A1127G	p.E376G	ELGIKWGSKWKKELMAGREPKPEIH	ELGIKWGSKWKKGLMAGREPKPEIH	3.0	3.0	-	-	4284_5:23524619-23524619 A>G_ELGIKWGSKWKKGLMAGREPKPEIH
5:147807146-147807146 G>A	1.0	4284	COLORECTAL	-	-	-	-	FBXO38	ENST00000394370,p.M763I|uc003lpg.2,p.M763I|ENST00000340253,p.M763I|uc031slt.1,p.M763I|NM_030793,p.M763I	retained_intron, protein_coding, processed_transcript	uc031slt.1	nonsynonymous SNV	exon14	c.G2289A	p.M763I	ACSPGGSEDSEAMEEGDAESSVCPR	ACSPGGSEDSEAIEEGDAESSVCPR	10.0	3.0	-	-	4284_5:147807146-147807146 G>A_ACSPGGSEDSEAIEEGDAESSVCPR
7:154585802-154585802 A>-	0.0	4284	COLORECTAL	-	-	-	-	DPP6	ENST00000377770,p.T384fs|uc011kvq.2,p.T277fs|uc003wlk.3,p.T384fs|NM_001936,p.T322fs|NM_001039350,p.T320fs|uc003wli.3,p.T320fs|ENST00000404039,p.T320fs|ENST00000332007,p.T322fs|uc003wlm.3,p.T322fs|ENST00000427557,p.T277fs|NM_130797,p.T384fs|NM_001290252,p.T277fs	retained_intron, protein_coding, processed_transcript	uc011kvq.2	frameshift deletion	exon9	c.829delA	p.T277fs	PPDDPRMREYYITMVKWATSTKVAV	PPDDPRMREYYIPW	4.0	3.0	-	-	4284_7:154585802-154585802 A>-_PPDDPRMREYYIPW
9:17236541-17236541 A>T	1.0	4284	COLORECTAL	-	-	-	-	CNTLN	NM_001114395,p.E268D|uc003zmx.4,p.E268D|uc003zmz.2,p.E268D|ENST00000380647,p.E268D|ENST00000380641,p.E268D|uc003zmy.3,p.E268D|NM_017738,p.E268D|ENST00000425824,p.E268D|ENST00000262360,p.E268D	protein_coding, processed_transcript	uc003zmz.2	nonsynonymous SNV	exon5	c.A804T	p.E268D	DLLNDLEKLRKQEAHLRKEKYSTDA	DLLNDLEKLRKQDAHLRKEKYSTDA	6.0	5.0	-	-	4284_9:17236541-17236541 A>T_DLLNDLEKLRKQDAHLRKEKYSTDA
1:115168538-115168538 T>G	0.0	4284	COLORECTAL	-	-	-	-	DENND2C	uc001efc.1,p.Q23P|NM_198459,p.Q23P|ENST00000393274,p.Q23P|ENST00000393276,p.Q23P|ENST00000393277,p.Q23P|uc001efd.1,p.Q23P|NM_001256404,p.Q23P	protein_coding, processed_transcript	uc001efd.1	nonsynonymous SNV	exon4	c.A68C	p.Q23P	QTLSRSHCKNIKQKISQWEGRANGI	QTLSRSHCKNIKPKISQWEGRANGI	4.0	7.0	-	-	4284_1:115168538-115168538 T>G_QTLSRSHCKNIKPKISQWEGRANGI
14:34269794-34269794 G>A	0.0	4284	COLORECTAL	-	-	-	-	NPAS3	ENST00000551634,p.G735R|ENST00000357798,p.G748R|ENST00000356141,p.G761R|NM_022123,p.G729R|uc001wru.3,p.G761R|ENST00000551492,p.G766R|NM_001164749,p.G761R|ENST00000548645,p.G731R|uc001wrv.3,p.G731R|ENST00000346562,p.G729R|NM_173159,p.G748R|NM_001165893,p.G731R|uc001wrt.3,p.G729R|uc001wrs.3,p.G748R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001wrv.3	nonsynonymous SNV	exon11	c.G2191A	p.G731R	PPLSASPRDKHPGNGGGGGGGGGGA	PPLSASPRDKHPRNGGGGGGGGGGA	4.0	7.0	-	-	4284_14:34269794-34269794 G>A_PPLSASPRDKHPRNGGGGGGGGGGA
12:88589322-88589322 G>C	1.0	4284	COLORECTAL	-	-	-	-	TMTC3	NM_181783,p.E881Q|uc001tau.3,p.E881Q|ENST00000266712,p.E881Q	protein_coding, nonsense_mediated_decay	uc001tau.3	nonsynonymous SNV	exon14	c.G2641C	p.E881Q	KSNKQLGKNGDEETPHKTTKDIKEI	KSNKQLGKNGDEQTPHKTTKDIKEI	7.0	5.0	-	-	4284_12:88589322-88589322 G>C_KSNKQLGKNGDEQTPHKTTKDIKEI
3:16216668-16216668 A>G	0.0	4284	COLORECTAL	-	-	-	-	GALNT15	ENST00000437509,p.R4G|ENST00000339732,p.R4G|uc003car.4,p.R4G|NM_054110,p.R4G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003car.4	nonsynonymous SNV	exon1	c.A10G	p.R4G	MLLRKRYRHRPCRLQF	MLLGKRYRHRPCRLQF	3.0	6.0	-	-	4284_3:16216668-16216668 A>G_MLLGKRYRHRPCRLQF
12:22076755-22076755 G>C	0.0	4284	COLORECTAL	-	-	-	-	ABCC9	ENST00000326684,p.H148D|uc001rfk.3,p.H148D	protein_coding	uc001rfk.3	nonsynonymous SNV	exon7	c.C442G	p.H148D	GFSHHESKSCYQHS	GFSHHESKSCYQDS	6.0	7.0	-	-	4284_12:22076755-22076755 G>C_GFSHHESKSCYQDS
2:179538381-179538381 ->T	0.0	4284	COLORECTAL	-	-	-	-	TTN	NM_133378,p.V10288fs|ENST00000342992,p.V10288fs|ENST00000589042,p.V11589fs|NM_001256850,p.V11215fs|uc021vsy.2,p.V10288fs|ENST00000414766,p.V807fs|uc010fre.1,p.V796fs|uc002umz.1,p.V6949fs|uc031rqc.1,p.V11589fs|uc031rqd.1,p.V11215fs|ENST00000591111,p.V11215fs|NM_001267550,p.V11589fs	retained_intron, protein_coding	uc031rqd.1	frameshift insertion	exon148	c.33642dupA	p.V11215fs	AVPEAPTPVPKKVEAPPAKVSKKIP	AVPEAPTPVPKKSGGTTS	7.0	4.0	-	-	4284_2:179538381-179538381 ->T_AVPEAPTPVPKKSGGTTS
19:52519219-52519235 ACAATCACTGCATCCAT>-	1.0	4284	COLORECTAL	-	-	-	-	ZNF614	uc002pyj.3,p.Y539fs|uc010epj.3,p.Y242fs|NM_025040,p.Y539fs|ENST00000270649,p.Y539fs	protein_coding, nonsense_mediated_decay	uc010epj.3	frameshift deletion	exon6	c.725_741del	p.Y242fs	NVHQRTHTGERPYGCSDCEKAFSHL	NVHQRTHTGERP	7.0	8.0	unscreened	-	4284_19:52519219-52519235 ACAATCACTGCATCCAT>-_NVHQRTHTGERP
1:10460562-10460562 A>T	1.0	4287	COLON	-	-	-	-	PGD	ENST00000538557,p.K53M|NM_002631,p.K66M|ENST00000270776,p.K66M|uc001arc.3,p.K66M|ENST00000465632,p.K53M|ENST00000491493,p.K53M|uc010oak.2,p.K66M|ENST00000541529,p.K66M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010oak.2	nonsynonymous SNV	exon3	c.A197T	p.K66M	GAQSLKEMVSKLKKPRRIILLVKAG	GAQSLKEMVSKLMKPRRIILLVKAG	9.0	2.0	-	-	4287_1:10460562-10460562 A>T_GAQSLKEMVSKLMKPRRIILLVKAG
20:31022442-31022442 G>-	1.0	4287	COLON	-	-	ID=COSM1180918;OCCURENCE=2(large_intestine),1(pancreas)	1	ASXL1	uc021wbw.1,p.G643fs|NM_015338,p.G643fs|ENST00000306058,p.G638fs|uc010geb.3,p.G534fs|ENST00000375687,p.G643fs|uc002wxs.3,p.G642fs	retained_intron, protein_coding, processed_transcript	uc021wbw.1	frameshift deletion	exon13	c.1927delG	p.G643fs	HCHREAATTAIGGGGGPGGGGGGAT	HCHREAATTAIGGGVARVEVAAGPPMREVAEAAAVVMVVRPVATLSPGEARAPLESVRQIYSEHNYCRLIL	9.0	9.0	-	-	4287_20:31022442-31022442 G>-_HCHREAATTAIGGGVARVEVAAGPPMREVAEAAAVVMVVRPVATLSPGEARAPLESVRQIYSEHNYCRLIL
10:98311035-98311035 A>G	1.0	4287	COLON	-	-	-	-	TM9SF3	uc001kmm.4,p.I309T|NM_020123,p.I309T|ENST00000371142,p.I309T	protein_coding, processed_transcript	uc001kmm.4	nonsynonymous SNV	exon7	c.T926C	p.I309T	SGCQIFAVSLIVIIVAMIEDLYTER	SGCQIFAVSLIVTIVAMIEDLYTER	10.0	3.0	-	-	4287_10:98311035-98311035 A>G_SGCQIFAVSLIVTIVAMIEDLYTER
7:116772014-116772014 A>C	1.0	4287	COLON	-	-	-	-	ST7	ENST00000446490,p.E214A|uc003vio.3,p.E214A|ENST00000393443,p.E164A|ENST00000393446,p.E214A|ENST00000422922,p.E168A|ENST00000393444,p.E171A|uc011knl.2,p.E214A|uc003vir.3,p.E162A|ENST00000465133,p.E171A|ENST00000393451,p.E214A|NM_018412,p.E214A|uc003vix.1,p.E50A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011knl.2	nonsynonymous SNV	exon6	c.A641C	p.E214A	RISAAHEALEINECATAYILLAEEE	RISAAHEALEINACATAYILLAEEE	8.0	7.0	-	-	4287_7:116772014-116772014 A>C_RISAAHEALEINACATAYILLAEEE
4:48559487-48559487 T>A	1.0	4287	COLON	-	-	-	-	FRYL	uc003gyh.1,p.M1370L|ENST00000507711,p.M1370L|ENST00000358350,p.M1370L|NM_015030,p.M1370L|uc003gyi.1,p.M259L|ENST00000537810,p.M1370L|ENST00000503238,p.M1370L|uc003gyk.3,p.M1370L|uc003gyg.1,p.M66L	retained_intron, protein_coding, processed_transcript	uc003gyk.3	nonsynonymous SNV	exon34	c.A4108T	p.M1370L	SPQATAMVLNNLMYMTAKYGDELAW	SPQATAMVLNNLLYMTAKYGDELAW	10.0	7.0	-	-	4287_4:48559487-48559487 T>A_SPQATAMVLNNLLYMTAKYGDELAW
19:11623896-11623896 A>C	1.0	4287	COLON	-	-	-	-	ECSIT	ENST00000592571,p.L30V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000592571	nonsynonymous SNV	exon1	c.T88G	p.L30V	LAMFGLRHMEPDLSARVTIYQAPCA	LAMFGLRHMEPDVSARVTIYQAPCA	9.0	6.0	-	-	4287_19:11623896-11623896 A>C_LAMFGLRHMEPDVSARVTIYQAPCA
9:125084859-125084859 G>T	1.0	4287	COLON	-	-	-	-	MRRF	NM_001173512,p.R199M|ENST00000373729,p.R207M|uc011lyr.2,p.R199M|ENST00000344641,p.R251M|uc010mwa.3,p.R251M|ENST00000297908,p.R199M|NM_138777,p.R251M	protein_coding, nonsense_mediated_decay	uc011lyr.2	nonsynonymous SNV	exon6	c.G596T	p.R199M	SQMADDTVAELDRHLAVKTKELLG	SQMADDTVAELDMHLAVKTKELLG	10.0	5.0	CD8	-	4287_9:125084859-125084859 G>T_SQMADDTVAELDMHLAVKTKELLG
7:116772014-116772014 A>C	1.0	4287	COLON	-	-	-	-	ST7	ENST00000323984,p.E214A|ENST00000393447,p.E171A|ENST00000393449,p.E214A|ENST00000432298,p.E168A|ENST00000265437,p.E214A|uc011knm.2,p.E171A|NM_021908,p.E214A|uc003viq.3,p.E168A|ENST00000490039,p.E162A|uc003vin.3,p.E214A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011knm.2	nonsynonymous SNV	exon6	c.A512C	p.E171A	RISAAHEALEINEIRSRVEVPLIAS	RISAAHEALEINAIRSRVEVPLIAS	8.0	7.0	CD8	-	4287_7:116772014-116772014 A>C_RISAAHEALEINAIRSRVEVPLIAS
6:83848838-83848838 C>A	1.0	4287	COLON	-	-	-	-	DOPEY1	ENST00000349129,p.L1693I|ENST00000237163,p.L1674I|ENST00000369739,p.L1684I|NM_001199942,p.L1684I|NM_015018,p.L1693I|uc003pjs.1,p.L1693I|uc011dyy.2,p.L1684I|uc010kbl.1,p.L1684I	retained_intron, protein_coding, processed_transcript	uc011dyy.2	nonsynonymous SNV	exon21	c.C5050A	p.L1684I	SVTLQLCRNLDNLIQQYKYETGLSD	SVTLQLCRNLDNIIQQYKYETGLSD	7.0	6.0	-	-	4287_6:83848838-83848838 C>A_SVTLQLCRNLDNIIQQYKYETGLSD
11:65422004-65422004 T>G	1.0	4287	COLON	-	-	-	-	RELA	uc001ofg.3,p.T501P|uc009yqr.3,p.T448P|NM_001145138,p.T498P|uc001ofh.3,p.T498P|NM_001243984,p.T432P|ENST00000406246,p.T501P|NM_021975,p.T501P|ENST00000308639,p.T498P|uc021qlq.1,p.T432P|uc010ron.2,p.T512P	retained_intron, protein_coding, nonsense_mediated_decay	uc021qlq.1	nonsynonymous SNV	exon11	c.A1294C	p.T432P	TEPMLMEYPEAITRLVTGAQRPPDP	TEPMLMEYPEAIPRLVTGAQRPPDP	8.0	3.0	-	-	4287_11:65422004-65422004 T>G_TEPMLMEYPEAIPRLVTGAQRPPDP
17:71192757-71192757 G>A	1.0	4287	COLON	-	-	-	-	COG1	NM_018714,p.A143T|ENST00000299886,p.A143T|uc002jjg.3,p.A143T|uc002jjh.3,p.A143T|uc002jjf.1,p.A143T	retained_intron, protein_coding, nonsense_mediated_decay	uc002jjh.3	nonsynonymous SNV	exon2	c.G427A	p.A143T	IWSSMEASQCLHATQLYLLCCHLHS	IWSSMEASQCLHTTQLYLLCCHLHS	9.0	10.0	-	-	4287_17:71192757-71192757 G>A_IWSSMEASQCLHTTQLYLLCCHLHS
6:45332945-45332945 T>A	1.0	4287	COLON	-	-	-	-	SUPT3H	NM_003599,p.S32C|ENST00000306867,p.S32C|uc003oxp.4,p.S32C|ENST00000371459,p.S32C|uc003oxn.2,p.S32C|ENST00000475057,p.S32C	protein_coding, processed_transcript, nonsense_mediated_decay	uc003oxp.4	nonsynonymous SNV	exon2	c.A94T	p.S32C	TGKSISFATELQSMMYSLGDARRPL	TGKSISFATELQCMMYSLGDARRPL	8.0	3.0	CD8	-	4287_6:45332945-45332945 T>A_TGKSISFATELQCMMYSLGDARRPL
1:227834371-227834371 G>A	1.0	4287	COLON	-	-	-	-	ZNF678	NM_178549,p.A84T|uc021pjy.1,p.A84T|ENST00000397097,p.A84T|ENST00000440339,p.A84T	protein_coding, processed_transcript	uc021pjy.1	nonsynonymous SNV	exon3	c.G250A	p.A84T	VMFENYRNLVSLAILSYSIQDLLPE	VMFENYRNLVSLTILSYSIQDLLPE	9.0	1.0	-	-	4287_1:227834371-227834371 G>A_VMFENYRNLVSLTILSYSIQDLLPE
3:14939498-14939498 G>T	1.0	4287	COLON	-	-	-	-	FGD5	uc003bzd.3,p.D66Y|ENST00000543601,p.D747Y|NM_152536,p.D988Y|uc003bzc.3,p.D988Y|ENST00000285046,p.D988Y|uc011avk.2,p.D988Y	retained_intron, protein_coding, processed_transcript	uc011avk.2	nonsynonymous SNV	exon6	c.G2962T	p.D988Y	VADVFLAREQGFDHHATHILQFDRY	VADVFLAREQGFYHHATHILQFDRY	6.0	8.0	-	-	4287_3:14939498-14939498 G>T_VADVFLAREQGFYHHATHILQFDRY
3:121413392-121413392 T>A	1.0	4287	COLON	-	-	-	-	GOLGB1	ENST00000393667,p.K1993M|uc011bjm.1,p.K1874M|uc003eei.5,p.K1988M|NM_004487,p.K1988M|NM_001256486,p.K1993M|uc003eej.5,p.K1954M|ENST00000340645,p.K1988M|uc021xcy.2,p.K1913M|NM_001256488,p.K1913M|uc010hrc.4,p.K1993M|NM_001256487,p.K1954M|uc010hrd.2,p.K1952M	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xcy.2	nonsynonymous SNV	exon12	c.A5738T	p.K1913M	VKEKTKVESEIRKEYLEKIQGAQKE	VKEKTKVESEIRMEYLEKIQGAQKE	8.0	7.0	-	-	4287_3:121413392-121413392 T>A_VKEKTKVESEIRMEYLEKIQGAQKE
14:69346806-69346806 T>A	1.0	4287	COLON	-	-	-	-	ACTN1	ENST00000376839,p.E653V|uc010ttb.2,p.E653V|uc001xkm.3,p.E718V|ENST00000193403,p.E718V|NM_001130004,p.E718V|ENST00000544964,p.E247V|ENST00000394419,p.E718V|NM_001130005,p.E718V|uc001xkn.3,p.E718V|ENST00000538545,p.E718V|uc001xkk.3,p.E314V|NM_001102,p.E718V|uc010ttc.2,p.E303V|ENST00000438964,p.E718V|uc001xkl.3,p.E718V	retained_intron, protein_coding, processed_transcript	uc010ttc.2	nonsynonymous SNV	exon7	c.A908T	p.E303V	TNYTMEHIRVGWEQLLTTIARTINE	TNYTMEHIRVGWVQLLTTIARTINE	10.0	2.0	unscreened	-	4287_14:69346806-69346806 T>A_TNYTMEHIRVGWVQLLTTIARTINE
6:29691294-29691294 T>G	1.0	4287	COLON	-	-	-	-	HLA-F	uc003nno.4,p.D18E|uc010jrl.3,p.D18E|uc011dlx.1,p.D18E|ENST00000334668,p.D18E|NM_001098478,p.D18E|ENST00000414333,p.D18E|NM_001098479,p.D18E|ENST00000376861,p.D18E|uc003nnm.4,p.D18E|ENST00000259951,p.D18E|uc031sna.1,p.D18E|NM_018950,p.D18E|ENST00000434407,p.D18E	protein_coding, processed_transcript	uc031sna.1	nonsynonymous SNV	exon1	c.T54G	p.D18E	LLLLLSGALALTDTWAGSHSLRYFS	LLLLLSGALALTETWAGSHSLRYFS	10.0	6.0	-	-	4287_6:29691294-29691294 T>G_LLLLLSGALALTETWAGSHSLRYFS
14:65197365-65197365 A>C	1.0	4287	COLON	-	-	-	-	PLEKHG3	ENST00000247226,p.Q119H|uc001xhn.1,p.Q119H|NM_015549,p.Q119H	retained_intron, protein_coding, processed_transcript	uc001xhn.1	nonsynonymous SNV	exon3	c.A357C	p.Q119H	MYVQDLRSIVESQEFDIYTQYCNNY	MYVQDLRSIVESHEFDIYTQYCNNY	6.0	3.0	-	-	4287_14:65197365-65197365 A>C_MYVQDLRSIVESHEFDIYTQYCNNY
7:107564729-107564729 T>A	1.0	4287	COLON	-	-	-	-	LAMB1	uc003vev.2,p.N1748Y|uc003vew.2,p.N1724Y|ENST00000222399,p.N1724Y|NM_002291,p.N1724Y|ENST00000393561,p.N1748Y	retained_intron, protein_coding, processed_transcript	uc003vew.2	nonsynonymous SNV	exon33	c.A5170T	p.N1724Y	SADARRKAEMLQNEAKTLLAQANSK	SADARRKAEMLQYEAKTLLAQANSK	9.0	9.0	-	-	4287_7:107564729-107564729 T>A_SADARRKAEMLQYEAKTLLAQANSK
3:142185287-142185287 A>G	1.0	4287	COLON	-	-	-	1	ATR	uc003eux.4,p.L2259P|NM_001184,p.L2259P|ENST00000383101,p.L2195P|ENST00000350721,p.L2259P|uc003euy.1,p.L145P	retained_intron, protein_coding, nonsense_mediated_decay	uc003euy.1	nonsynonymous SNV	exon3	c.T434C	p.L145P	KKLVEEATFSEILIPLQSVMIPTLP	KKLVEEATFSEIPIPLQSVMIPTLP	8.0	4.0	-	-	4287_3:142185287-142185287 A>G_KKLVEEATFSEIPIPLQSVMIPTLP
8:144995590-144995590 T>A	1.0	4287	COLON	-	-	-	-	PLEC	ENST00000354589,p.E2800V|uc003zad.2,p.E2800V|NM_201384,p.E2800V|uc003zah.2,p.E2786V|uc003zaf.1,p.E2937V|NM_201379,p.E2778V|NM_000445,p.E2827V|NM_201383,p.E2804V|ENST00000398774,p.E2768V|ENST00000436759,p.E2827V|NM_201381,p.E2768V|ENST00000322810,p.E2937V|uc003zae.1,p.E2768V|NM_201380,p.E2937V|ENST00000356346,p.E2786V|NM_201382,p.E2800V|uc003zab.1,p.E2800V|ENST00000345136,p.E2800V|uc003zac.1,p.E2804V|ENST00000357649,p.E2804V|uc003zaj.2,p.E2827V|NM_201378,p.E2786V|ENST00000354958,p.E2778V|uc003zag.1,p.E2778V|ENST00000527096,p.E2823V	retained_intron, protein_coding	uc003zaj.2	nonsynonymous SNV	exon33	c.A8480T	p.E2827V	LFQAMQKGLIVREHGIRLLEAQIAT	LFQAMQKGLIVRVHGIRLLEAQIAT	9.0	5.0	-	-	4287_8:144995590-144995590 T>A_LFQAMQKGLIVRVHGIRLLEAQIAT
1:203029478-203029478 A>G	1.0	4287	COLON	-	-	-	-	PPFIA4	uc009xaj.3,p.K1031R|uc001gzb.1,p.K95R|ENST00000447715,p.K884R|ENST00000599966,p.K400R|NM_015053,p.K400R|ENST00000414050,p.K613R|ENST00000295706,p.K400R|uc001gza.3,p.K400R|ENST00000272198,p.K400R|uc010pqf.2,p.K613R|uc001gyz.3,p.K400R|ENST00000367240,p.K885R	retained_intron, protein_coding, processed_transcript	uc010pqf.2	nonsynonymous SNV	exon16	c.A1838G	p.K613R	REIGISNALHRLKLRLAIQEMVSLT	REIGISNALHRLRLRLAIQEMVSLT	6.0	3.0	-	-	4287_1:203029478-203029478 A>G_REIGISNALHRLRLRLAIQEMVSLT
14:65197365-65197365 A>C	1.0	4287	COLON	-	-	-	-	PLEKHG3	uc001xho.1,p.Q175H|uc001xhp.2,p.Q175H|ENST00000555982,p.Q175H|ENST00000394691,p.Q175H	retained_intron, protein_coding, processed_transcript	uc001xhp.2	nonsynonymous SNV	exon4	c.A525C	p.Q175H	PVAVASCFVERSQEFDIYTQYCNNY	PVAVASCFVERSHEFDIYTQYCNNY	6.0	3.0	-	-	4287_14:65197365-65197365 A>C_PVAVASCFVERSHEFDIYTQYCNNY
19:11027422-11027422 C>T	1.0	4287	COLON	-	-	-	-	CARM1	ENST00000344150,p.A330V|uc002mqa.3,p.A113V|NM_199141,p.A330V|ENST00000327064,p.A330V|uc002mpz.3,p.A330V	retained_intron, protein_coding, nonsense_mediated_decay	uc002mqa.3	nonsynonymous SNV	exon4	c.C338T	p.A113V	FHGVDLSALRGAAVDEYFRQPVVDT	FHGVDLSALRGAVVDEYFRQPVVDT	8.0	8.0	-	-	4287_19:11027422-11027422 C>T_FHGVDLSALRGAVVDEYFRQPVVDT
6:111654527-111654527 T>A	1.0	4287	COLON	-	-	-	-	REV3L	ENST00000358835,p.N2575I|ENST00000435970,p.N2497I|ENST00000368805,p.N2575I|NM_002912,p.N2575I|NM_001286431,p.N2497I|NM_001286432,p.N2497I|ENST00000368802,p.N2575I|uc003pux.4,p.N2497I|uc003puy.4,p.N2575I|uc003puz.4,p.N2497I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003puz.4	nonsynonymous SNV	exon25	c.A7490T	p.N2497I	VESMMLRIAKPMNYIPVTPSVQQRS	VESMMLRIAKPMIYIPVTPSVQQRS	9.0	7.0	-	-	4287_6:111654527-111654527 T>A_VESMMLRIAKPMIYIPVTPSVQQRS
1:205496971-205496971 A>C	1.0	4287	COLON	-	-	-	-	CDK18	uc010prj.2,p.K171T|uc001hcs.3,p.K171T|uc001hcr.3,p.K290T|ENST00000429964,p.K260T|ENST00000360066,p.K260T|uc001hcq.3,p.K260T|NM_002596,p.K260T|uc001hcp.3,p.K260T|NM_212502,p.K260T|NM_212503,p.K290T|uc009xbm.1,p.K185T|ENST00000506784,p.K290T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010prj.2	nonsynonymous SNV	exon8	c.A512C	p.K171T	QLLRGLAYCHHRKILHRDLKPQNLL	QLLRGLAYCHHRTILHRDLKPQNLL	8.0	3.0	-	-	4287_1:205496971-205496971 A>C_QLLRGLAYCHHRTILHRDLKPQNLL
2:69555428-69555428 G>A	1.0	4287	COLON	-	-	-	-	GFPT1	NM_001244710,p.A623V|ENST00000361060,p.A605V|uc002sfh.3,p.A605V|ENST00000357308,p.A623V|NM_002056,p.A605V|uc002sfi.2,p.A623V	protein_coding, processed_transcript	uc002sfi.2	nonsynonymous SNV	exon18	c.C1868T	p.A623V	IMRDHTYAKCQNALQQVVARQGRPV	IMRDHTYAKCQNVLQQVVARQGRPV	10.0	10.0	-	-	4287_2:69555428-69555428 G>A_IMRDHTYAKCQNVLQQVVARQGRPV
18:43462298-43462298 T>A	1.0	4287	COLON	-	-	-	-	EPG5	uc002lbm.3,p.Y1820F|ENST00000282041,p.Y1820F|NM_020964,p.Y1820F|uc002lbn.2,p.Y695F|uc010xcq.1,p.Y374F|ENST00000592272,p.Y695F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xcq.1	nonsynonymous SNV	exon15	c.A1121T	p.Y374F	LMPFNLFCKHWTYLLLYQFPDQYSD	LMPFNLFCKHWTFLLLYQFPDQYSD	7.0	9.0	-	-	4287_18:43462298-43462298 T>A_LMPFNLFCKHWTFLLLYQFPDQYSD
7:141918224-141918224 G>T	1.0	4287	COLON	-	-	-	-	LOC93432	ENST00000477922,p.G1751W|NM_001293626,p.G1751W	retained_intron, protein_coding	NM_001293626	nonsynonymous SNV	exon47	c.G5251T	p.G1751W	NKYLSDSNPLKVGYIRIWGVNTYVT	NKYLSDSNPLKVWYIRIWGVNTYVT	7.0	1.0	unscreened	-	4287_7:141918224-141918224 G>T_NKYLSDSNPLKVWYIRIWGVNTYVT
2:135711098-135711098 C>T	1.0	4287	COLON	-	-	-	-	CCNT2	NM_001241,p.A358V|ENST00000264157,p.A358V|NM_058241,p.A358V|uc002tuc.2,p.A358V|uc002tub.2,p.A358V|ENST00000295238,p.A358V|uc010zbf.2,p.A183V|ENST00000537343,p.A183V|uc002tud.2,p.A21V	retained_intron, protein_coding, nonsense_mediated_decay	uc010zbf.2	nonsynonymous SNV	exon10	c.C548T	p.A183V	SSHQEWPQHQDSARTEQLYSQKQET	SSHQEWPQHQDSVRTEQLYSQKQET	8.0	1.0	-	-	4287_2:135711098-135711098 C>T_SSHQEWPQHQDSVRTEQLYSQKQET
7:92733855-92733855 G>T	1.0	4287	COLON	-	-	-	-	SAMD9	uc022ahg.1,p.S519Y|NM_001193307,p.S519Y|uc003umf.3,p.S519Y|uc003umg.3,p.S519Y|ENST00000379958,p.S519Y|NM_017654,p.S519Y|ENST00000446617,p.S519Y	protein_coding	uc022ahg.1	nonsynonymous SNV	exon1	c.C1556A	p.S519Y	PFDPSSWQRERASDVRKLISFLTHE	PFDPSSWQRERAYDVRKLISFLTHE	7.0	2.0	-	-	4287_7:92733855-92733855 G>T_PFDPSSWQRERAYDVRKLISFLTHE
21:47706912-47706912 A>T	1.0	4287	COLON	-	-	-	-	YBEY	uc002ziv.3,p.I29F|ENST00000397691,p.I29F|ENST00000397701,p.I29F|uc002zit.1,p.I29F|uc002zix.3,p.I29F|uc002ziy.3,p.I29F|NM_058181,p.I29F|ENST00000339195,p.I29F|ENST00000329319,p.I29F|NM_001006114,p.I29F|uc002ziu.1,p.I29F	retained_intron, protein_coding	uc002ziy.3	nonsynonymous SNV	exon2	c.A85T	p.I29F	APLRSKIEIVRRILGVQKFDLGIIC	APLRSKIEIVRRFLGVQKFDLGIIC	8.0	9.0	-	-	4287_21:47706912-47706912 A>T_APLRSKIEIVRRFLGVQKFDLGIIC
X:65476043-65476045 TTG>-	1.0	4287	COLON	-	-	-	-	HEPH	NM_014799,p.656_656del|NM_001130860,p.926_926del|NM_001282141,p.734_734del|ENST00000419594,p.734_734del|ENST00000374727,p.926_926del|uc004dwo.3,p.656_656del|ENST00000343002,p.923_923del|ENST00000519389,p.977_977del|uc011mpa.2,p.926_926del|ENST00000336279,p.656_656del|uc011moz.2,p.977_977del|uc004dwn.3,p.926_926del|uc010nks.3,p.215_215del|uc010nkr.3,p.734_734del|NM_138737,p.977_977del|ENST00000441993,p.926_926del	retained_intron, protein_coding, nonsense_mediated_decay	uc011mpa.2	nonframeshift deletion	exon16	c.2776_2778del	p.926_926del	HGGRSDMDREFALLFLIFDENKSWY	HGGRSDMDREFALFLIFDENKSWYL	9.0	3.0	-	-	4287_X:65476043-65476045 TTG>-_HGGRSDMDREFALFLIFDENKSWYL
19:11623896-11623896 A>C	1.0	4287	COLON	-	-	-	-	ECSIT	ENST00000591104,p.L238R|NM_016581,p.L238R|ENST00000592312,p.L122R|ENST00000585318,p.L122R|NM_001142464,p.L238R|ENST00000252440,p.L238R|uc002msb.3,p.L238R|NM_001243204,p.L238R|ENST00000270517,p.L238R|uc010dyd.3,p.L238R|uc010dyc.2,p.L238R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dyd.3	nonsynonymous SNV	exon4	c.T713G	p.L238R	LAMFGLRHMEPDLSARVTIYQVPLP	LAMFGLRHMEPDRSARVTIYQVPLP	9.0	6.0	-	-	4287_19:11623896-11623896 A>C_LAMFGLRHMEPDRSARVTIYQVPLP
15:52613619-52613619 A>T	0.0	4287	COLON	-	-	-	1	MYO5A	ENST00000553916,p.L1603M|NM_001142495,p.L1578M|ENST00000399233,p.L1602M|ENST00000358212,p.L1630M|ENST00000399229,p.L335M|uc010ugd.1,p.L327M|uc002aby.2,p.L1605M|NM_000259,p.L1605M|uc002abx.3,p.L1578M|ENST00000356338,p.L1578M|ENST00000399231,p.L1605M	retained_intron, protein_coding, nonsense_mediated_decay	uc010ugd.1	nonsynonymous SNV	exon8	c.T979A	p.L327M	FDLAEYRQVLSDLAIQIYQQLVRVL	FDLAEYRQVLSDMAIQIYQQLVRVL	7.0	2.0	unscreened	-	4287_15:52613619-52613619 A>T_FDLAEYRQVLSDMAIQIYQQLVRVL
17:7577539-7577539 G>A	1.0	4287	COLON	-	-	ID=COSM3388183,COSM120007,COSM120006,COSM10656,COSM120005,COSM1640831;OCCURENCE=61(breast),26(skin),9(biliary_tract),144(large_intestine),4(prostate),4(liver),2(kidney),11(pancreas),21(urinary_tract),31(ovary),4(soft_tissue),20(endometrium),20(lung),1(penis),4(thyroid),27(haematopoietic_and_lymphoid_tissue),1(pleura),1(cervix),28(stomach),33(central_nervous_system),45(oesophagus),1(vulva),1(bone),21(upper_aerodigestive_tract),1(NS)	1	TP53	NM_001126118,p.R209W|ENST00000445888,p.R248W|ENST00000420246,p.R248W|NM_001276695,p.R209W|NM_001126112,p.R248W|ENST00000413465,p.R248W|NM_001276761,p.R209W|uc002gih.3,p.R248W|uc010cng.2,p.R89W|NM_001276699,p.R89W|ENST00000509690,p.R116W|NM_001276760,p.R209W|NM_001276696,p.R209W|NM_001276698,p.R89W|ENST00000455263,p.R248W|ENST00000269305,p.R248W|ENST00000359597,p.R248W|NM_001126113,p.R248W|NM_000546,p.R248W|uc010cnf.2,p.R89W|uc031qyq.1,p.R209W|NM_001126114,p.R248W|NM_001126116,p.R116W|NM_001126115,p.R116W|uc002gij.3,p.R209W|NM_001126117,p.R116W|uc002gii.2,p.R89W|uc002gin.3,p.R155W|uc002gig.1,p.R248W|uc002gio.3,p.R116W|NM_001276697,p.R89W	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon6	c.C625T	p.R209W	YMCNSSCMGGMNRRPILTIITLEDS	YMCNSSCMGGMNWRPILTIITLEDS	10.0	10.0	-	-	4287_17:7577539-7577539 G>A_YMCNSSCMGGMNWRPILTIITLEDS
20:32217535-32217535 G>C	1.0	4287	COLON	-	-	-	-	CBFA2T2	NM_005093,p.C357S|ENST00000492345,p.C328S|ENST00000375279,p.C357S|ENST00000397800,p.C328S|NM_001039709,p.C328S|ENST00000359606,p.C367S|uc002wzh.1,p.C328S|ENST00000342704,p.C348S|ENST00000346541,p.C357S|NM_001032999,p.C348S|uc010zug.1,p.C131S|uc002wzg.1,p.C357S|uc002wze.1,p.C348S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zug.1	nonsynonymous SNV	exon6	c.G392C	p.C131S	ADEWKHLDHALNCIMEMVEKTRRSM	ADEWKHLDHALNSIMEMVEKTRRSM	9.0	3.0	-	-	4287_20:32217535-32217535 G>C_ADEWKHLDHALNSIMEMVEKTRRSM
7:44797605-44797605 G>A	0.0	4287	COLON	-	-	-	-	ZMIZ2	ENST00000433667,p.M205I|uc003tlr.3,p.M237I|ENST00000413916,p.M205I|uc003tlq.3,p.M205I|ENST00000265346,p.M237I|uc003tls.3,p.M237I|NM_001300959,p.M205I|ENST00000441627,p.M237I|NM_174929,p.M237I|ENST00000309315,p.M237I|NM_031449,p.M237I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003tls.3	nonsynonymous SNV	exon5	c.G711A	p.M237I	SPLAMNPTRAAGMTPLYAGQRLPQH	SPLAMNPTRAAGITPLYAGQRLPQH	9.0	7.0	unscreened	-	4287_7:44797605-44797605 G>A_SPLAMNPTRAAGITPLYAGQRLPQH
22:29913271-29913271 A>G	1.0	4287	COLON	-	-	-	-	THOC5	NM_003678,p.V525A|ENST00000397872,p.V525A|uc003aft.3,p.V525A|NM_001002879,p.V525A|ENST00000397871,p.V525A|NM_001002878,p.V525A|uc003afs.3,p.V525A|uc003afu.3,p.V525A|ENST00000397873,p.V525A|uc003afq.3,p.V186A|uc003afr.3,p.V525A|ENST00000490103,p.V525A|NM_001002877,p.V525A	retained_intron, protein_coding, nonsense_mediated_decay	uc003afu.3	nonsynonymous SNV	exon16	c.T1574C	p.V525A	AKVVSRLVKWVTVAHEDYMELHFTK	AKVVSRLVKWVTAAHEDYMELHFTK	8.0	5.0	unscreened	-	4287_22:29913271-29913271 A>G_AKVVSRLVKWVTAAHEDYMELHFTK
17:8139501-8139501 G>T	1.0	4287	COLON	-	-	-	-	CTC1	NM_025099,p.L318M|ENST00000449476,p.L283M|uc002gkq.4,p.L318M|ENST00000315684,p.L318M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gkq.4	nonsynonymous SNV	exon6	c.C952A	p.L318M	RLLLLKPECVQELELELEGPLLEAD	RLLLLKPECVQEMELELEGPLLEAD	7.0	8.0	-	-	4287_17:8139501-8139501 G>T_RLLLLKPECVQEMELELEGPLLEAD
X:100118568-100118568 G>A	0.0	4287	COLON	-	-	-	-	NOX1	uc004egj.3,p.A53V|ENST00000217885,p.A53V|uc004egl.4,p.A53V|NM_013955,p.A53V|NM_007052,p.A53V|ENST00000372964,p.A53V|ENST00000372966,p.A53V	protein_coding	uc004egl.4	nonsynonymous SNV	exon3	c.C158T	p.A53V	YTRKILGSTLACARASALCLNFNST	YTRKILGSTLACVRASALCLNFNST	10.0	1.0	unscreened	-	4287_X:100118568-100118568 G>A_YTRKILGSTLACVRASALCLNFNST
19:23544744-23544744 C>A	1.0	4287	COLON	-	-	-	-	ZNF91	ENST00000300619,p.G346V|uc010xrj.2,p.G314V|NM_003430,p.G346V|NM_001300951,p.G314V|ENST00000397082,p.G314V|uc002nre.3,p.G346V	retained_intron, protein_coding, processed_transcript	uc010xrj.2	nonsynonymous SNV	exon3	c.G941T	p.G314V	SSTLAKHKRIHTGEKPYKCKECGKA	SSTLAKHKRIHTVEKPYKCKECGKA	10.0	2.0	unscreened	-	4287_19:23544744-23544744 C>A_SSTLAKHKRIHTVEKPYKCKECGKA
12:112481593-112481593 G>C	1.0	4287	COLON	-	-	-	-	NAA25	ENST00000261745,p.L696V|uc009zwa.2,p.L696V|uc001ttm.3,p.L696V|NM_024953,p.L696V|uc009zvz.2,p.L668V	retained_intron, protein_coding, nonsense_mediated_decay	uc009zwa.2	nonsynonymous SNV	exon18	c.C2086G	p.L696V	TLWLRIRSLTLRLISGLPSLNHPVE	TLWLRIRSLTLRVISGLPSLNHPVE	8.0	2.0	-	-	4287_12:112481593-112481593 G>C_TLWLRIRSLTLRVISGLPSLNHPVE
7:141918225-141918225 G>T	1.0	4287	COLON	-	-	-	-	LOC93432	ENST00000477922,p.G1751V|NM_001293626,p.G1751V	retained_intron, protein_coding	NM_001293626	nonsynonymous SNV	exon47	c.G5252T	p.G1751V	NKYLSDSNPLKVGYIRIWGVNTYVT	NKYLSDSNPLKVVYIRIWGVNTYVT	7.0	1.0	unscreened	-	4287_7:141918225-141918225 G>T_NKYLSDSNPLKVVYIRIWGVNTYVT
2:233198646-233198646 A>C	1.0	4287	COLON	-	-	-	-	DIS3L2	ENST00000325385,p.I703L|ENST00000409307,p.I703L|uc010fxz.3,p.I703L|NM_152383,p.I703L|ENST00000424049,p.I338L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fxz.3	nonsynonymous SNV	exon17	c.A2107C	p.I703L	LNVPLYTHFTSPIRRFADVLVHRLL	LNVPLYTHFTSPLRRFADVLVHRLL	8.0	6.0	-	-	4287_2:233198646-233198646 A>C_LNVPLYTHFTSPLRRFADVLVHRLL
19:19221525-19221525 C>T	1.0	4287	COLON	-	-	-	-	SLC25A42	ENST00000318596,p.S266F|NM_178526,p.S266F|uc002nlf.3,p.S266F	retained_intron, protein_coding, processed_transcript	uc002nlf.3	nonsynonymous SNV	exon8	c.C797T	p.S266F	MQTAGVTGYPRASIARTLRTIVREE	MQTAGVTGYPRAFIARTLRTIVREE	5.0	4.0	-	-	4287_19:19221525-19221525 C>T_MQTAGVTGYPRAFIARTLRTIVREE
11:36596296-36596296 G>T	1.0	4287	COLON	-	-	-	-	RAG1	ENST00000534663,p.C481F|NM_000448,p.C481F|uc021qgb.1,p.C481F|ENST00000299440,p.C481F|uc001mwu.4,p.C481F	protein_coding, processed_transcript, nonsense_mediated_decay	uc021qgb.1	nonsynonymous SNV	exon1	c.G1442T	p.C481F	VCLAIRVNTFLSCSQYHKMYRTVKA	VCLAIRVNTFLSFSQYHKMYRTVKA	5.0	9.0	-	-	4287_11:36596296-36596296 G>T_VCLAIRVNTFLSFSQYHKMYRTVKA
2:191874618-191874618 A>C	1.0	4287	COLON	-	-	-	-	STAT1	ENST00000392323,p.L40V|ENST00000409465,p.L38V|ENST00000454414,p.L38V|NM_007315,p.L38V|ENST00000452281,p.L38V|ENST00000432058,p.L38V|uc002usk.2,p.L38V|ENST00000424722,p.L38V|uc002usj.2,p.L38V|ENST00000540176,p.L38V|ENST00000392322,p.L38V|uc002usl.2,p.L40V|uc010fse.2,p.L38V|NM_139266,p.L38V|ENST00000361099,p.L38V	retained_intron, protein_coding, nonsense_mediated_decay	uc010fse.2	nonsynonymous SNV	exon2	c.T112G	p.L38V	FPMEIRQYLAQWLEKQDWEHAANDV	FPMEIRQYLAQWVEKQDWEHAANDV	10.0	2.0	-	-	4287_2:191874618-191874618 A>C_FPMEIRQYLAQWVEKQDWEHAANDV
2:60688542-60688550 TCCTCCTCT>-	1.0	4287	COLON	-	-	-	1	BCL11A	uc010ypj.2,p.465_468del|uc002sae.1,p.499_502del|uc002sab.3,p.499_502del|ENST00000538214,p.465_468del|uc010ypi.2,p.168_171del|uc002saf.1,p.465_468del|ENST00000335712,p.499_502del|ENST00000356842,p.499_502del|ENST00000537768,p.168_171del|NM_022893,p.499_502del|uc002sad.1,p.347_350del|NM_018014,p.499_502del|ENST00000358510,p.465_468del	protein_coding, processed_transcript	uc010ypj.2	nonframeshift deletion	exon3	c.1395_1403del	p.465_468del	EEEDDEEEEEEEEEEEEELTESERV	EEEDDEEEEEEEEEELTESERVDYG	7.0	10.0	unscreened	-	4287_2:60688542-60688550 TCCTCCTCT>-_EEEDDEEEEEEEEEELTESERVDYG
2:114500277-114500277 A>-	1.0	4287	COLON	-	-	ID=COSM111375;OCCURENCE=2(ovary),9(large_intestine),1(pancreas)	-	SLC35F5	ENST00000245680,p.C248fs|uc002tku.1,p.C248fs|ENST00000409106,p.C242fs|NM_025181,p.C248fs	retained_intron, protein_coding, processed_transcript	uc002tku.1	frameshift deletion	exon7	c.742delT	p.C248fs	TATQVAKISFFFCFVWFLANLSYQE	TATQVAKISFFFALCGFWQICHIKKHFQTHKLL	9.0	1.0	unscreened	-	4287_2:114500277-114500277 A>-_TATQVAKISFFFALCGFWQICHIKKHFQTHKLL
9:130605462-130605462 A>-	1.0	4287	COLON	-	-	-	-	ENG	NM_001114753,p.Y44fs|NM_000118,p.Y44fs|uc004bsj.5,p.Y44fs|ENST00000344849,p.Y44fs|uc004bsk.5,p.Y44fs|ENST00000373203,p.Y44fs	protein_coding, processed_transcript	uc004bsk.5	frameshift deletion	exon2	c.130delT	p.Y44fs	LQPVGPERGEVTYTTSQVSKGCVAQ	LQPVGPERGEVTIPLARSRRAAWLRPPMPSLKSMSSSWSSQRARHSWS	6.0	10.0	-	-	4287_9:130605462-130605462 A>-_LQPVGPERGEVTIPLARSRRAAWLRPPMPSLKSMSSSWSSQRARHSWS
5:81573660-81573660 C>T	1.0	4287	COLON	-	-	-	-	RPS23	ENST00000510019,p.G6R|ENST00000296674,p.G6R|NM_001025,p.G6R|ENST00000511844,p.G6R|ENST00000510210,p.G6R|ENST00000512493,p.G6R|ENST00000507980,p.G6R|uc003khu.3,p.G6R	retained_intron, protein_coding, processed_transcript	uc003khu.3	nonsynonymous SNV	exon2	c.G16A	p.G6R	MGKCRGLRTARKLRSHRR	MGKCRRLRTARKLRSHRR	10.0	4.0	-	-	4287_5:81573660-81573660 C>T_MGKCRRLRTARKLRSHRR
3:113115400-113115400 C>A	0.0	4287	COLON	-	-	-	-	CFAP44	NM_018338,p.A582S|ENST00000295868,p.A582S|uc003ead.2,p.A582S|ENST00000393845,p.A582S|NM_001164496,p.A582S|uc003eae.2,p.A582S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003eae.2	nonsynonymous SNV	exon14	c.G1744T	p.A582S	VFKPHTACVTALAYERDGEILATGS	VFKPHTACVTALSYERDGEILATGS	7.0	4.0	unscreened	-	4287_3:113115400-113115400 C>A_VFKPHTACVTALSYERDGEILATGS
7:128588713-128588713 A>-	1.0	4287	COLON	-	-	-	-	IRF5	uc010llt.3,p.S360fs|uc003voh.3,p.S446fs|NM_001098630,p.S446fs|NM_032643,p.S446fs|NM_001098627,p.S446fs|ENST00000402030,p.S446fs|ENST00000473745,p.S446fs|uc003voi.3,p.S446fs|ENST00000357234,p.S462fs|ENST00000249375,p.S446fs|NM_001098629,p.S462fs|NM_001242452,p.S360fs|ENST00000477535,p.S360fs|uc003voj.4,p.S446fs|uc003vog.3,p.S462fs	retained_intron, protein_coding, nonsense_mediated_decay	uc010llt.3	frameshift deletion	exon8	c.1080delA	p.S360fs	LSWSADSIRLQISNPDLKDRMVEQF	LSWSADSIRLQISTQTSKTAWWSNSRSSITSGSPSSGCSLWPRPLLEQALVLARGPGLCTQLACN	6.0	3.0	unscreened	-	4287_7:128588713-128588713 A>-_LSWSADSIRLQISTQTSKTAWWSNSRSSITSGSPSSGCSLWPRPLLEQALVLARGPGLCTQLACN
22:37707512-37707512 ->T	0.0	4287	COLON	-	-	-	-	CYTH4	uc003arf.3,p.G301fs|uc011amw.2,p.G244fs|ENST00000248901,p.G301fs|NM_013385,p.G301fs	retained_intron, protein_coding, processed_transcript	uc011amw.2	frameshift insertion	exon11	c.730_731insT	p.G244fs	YYFEFTTDKEPRGIIPLENLSVQKV	YYFEFTTDKEPRVNYTS	6.0	1.0	unscreened	-	4287_22:37707512-37707512 ->T_YYFEFTTDKEPRVNYTS
5:465242-465242 C>T	1.0	4287	COLON	-	-	-	-	EXOC3	uc003jba.3,p.A598V|NM_007277,p.A598V|ENST00000315013,p.A598V|ENST00000512944,p.A598V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jba.3	nonsynonymous SNV	exon11	c.C1793T	p.A598V	IKKPYKKRMTAEAHRRVVVEYLRAV	IKKPYKKRMTAEVHRRVVVEYLRAV	7.0	10.0	-	-	4287_5:465242-465242 C>T_IKKPYKKRMTAEVHRRVVVEYLRAV
1:22188571-22188571 A>T	1.0	4287	COLON	-	-	-	-	HSPG2	ENST00000374695,p.L1593H|uc009vqd.3,p.L1594H|NM_001291860,p.L1594H|NM_005529,p.L1593H|uc001bfj.3,p.L1593H	protein_coding, processed_transcript, nonsense_mediated_decay	uc009vqd.3	nonsynonymous SNV	exon38	c.T4781A	p.L1594H	QCQHNAAGEFCELCAPGYYGDATAG	QCQHNAAGEFCEHCAPGYYGDATAG	8.0	7.0	-	-	4287_1:22188571-22188571 A>T_QCQHNAAGEFCEHCAPGYYGDATAG
9:131256859-131256859 C>T	1.0	4287	COLON	-	-	ID=COSM218983,COSM1159081,COSM1159080;OCCURENCE=2(pancreas)	-	ODF2	NM_153439,p.A604V|uc022boj.1,p.A604V	protein_coding, processed_transcript, nonsense_mediated_decay	uc022boj.1	nonsynonymous SNV	exon16	c.C1811T	p.A604V	CDKENKILKITEAKLAECQDQLQGY	CDKENKILKITEVKLAECQDQLQGY	8.0	9.0	-	-	4287_9:131256859-131256859 C>T_CDKENKILKITEVKLAECQDQLQGY
4:77661483-77661483 G>T	1.0	4287	COLON	-	-	-	-	SHROOM3	uc011cbx.2,p.Q719H|uc003hkg.3,p.Q497H|uc011cbz.1,p.Q543H|uc003hkf.1,p.Q594H|ENST00000296043,p.Q719H|NM_020859,p.Q719H	retained_intron, protein_coding, processed_transcript	uc011cbz.1	nonsynonymous SNV	exon4	c.G1629T	p.Q543H	KAAPDLGSHLDRQVSYPRPEGRTGA	KAAPDLGSHLDRHVSYPRPEGRTGA	8.0	5.0	-	-	4287_4:77661483-77661483 G>T_KAAPDLGSHLDRHVSYPRPEGRTGA
9:125084859-125084859 G>T	1.0	4287	COLON	-	-	-	-	MRRF	ENST00000394315,p.G198C|NM_199177,p.G198C|uc022bmy.1,p.G198C|ENST00000373723,p.G198C	protein_coding, nonsense_mediated_decay	uc022bmy.1	nonsynonymous SNV	exon5	c.G592T	p.G198C	AKWPMTQWQNWTGIWQ	AKWPMTQWQNWTCIWQ	10.0	5.0	unscreened	-	4287_9:125084859-125084859 G>T_AKWPMTQWQNWTCIWQ
1:145295521-145295521 C>T	1.0	4287	COLON	-	rs71231122	-	-	NBPF10	ENST00000490598,p.L92F|uc021oul.2,p.L92F|uc031poc.1,p.L92F|ENST00000342960,p.L92F|uc021ouk.1,p.L92F|NM_001039703,p.L92F	protein_coding, processed_transcript	uc031poc.1	nonsynonymous SNV	exon2	c.C274T	p.L92F	EKLAEQLKQAEELRQYKVLVHSQER	EKLAEQLKQAEEFRQYKVLVHSQER	10.0	6.0	unscreened	-	4287_1:145295521-145295521 C>T_EKLAEQLKQAEEFRQYKVLVHSQER
6:31498645-31498645 T>C	1.0	4287	COLON	-	-	-	-	DDX39B	ENST00000376177,p.R402G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000376177	nonsynonymous SNV	exon9	c.A1204G	p.R402G	APRAWLSHLCPMRMMPRSSMMCRIA	APRAWLSHLCPMGMMPRSSMMCRIA	10.0	1.0	-	-	4287_6:31498645-31498645 T>C_APRAWLSHLCPMGMMPRSSMMCRIA
17:48774348-48774348 C>A	1.0	4287	COLON	-	-	-	-	ANKRD40	ENST00000285243,p.D305Y|uc002iso.3,p.D305Y|NM_052855,p.D305Y	retained_intron, protein_coding	uc002iso.3	nonsynonymous SNV	exon4	c.G913T	p.D305Y	LRVCCCELGVNPDQVEKIRKLPNTL	LRVCCCELGVNPYQVEKIRKLPNTL	7.0	1.0	unscreened	-	4287_17:48774348-48774348 C>A_LRVCCCELGVNPYQVEKIRKLPNTL
16:53476615-53476653 AAATCTACCCCCACATTTCAGAGAACGTACTGAGAGATT>-	0.0	4287	COLON	-	-	-	-	RBL2	NM_005611,p.139_152del|ENST00000544405,p.65_78del|uc002ehi.4,p.139_152del|uc010vgv.1,p.65_78del|ENST00000262133,p.139_152del	retained_intron, protein_coding, processed_transcript	uc010vgv.1	nonframeshift deletion	exon3	c.195_233del	p.65_78del	EFFNKMKKWEDMANLPPHFRERTER	EFFNKMKKWEDMAERNFTVSAVIFK	9.0	6.0	-	-	4287_16:53476615-53476653 AAATCTACCCCCACATTTCAGAGAACGTACTGAGAGATT>-_EFFNKMKKWEDMAERNFTVSAVIFK
5:112174268-112174268 A>-	1.0	4287	COLON	-	-	-	1	APC	uc003kpz.4,p.K993fs|uc010jbz.3,p.K710fs|ENST00000512211,p.K993fs|ENST00000507379,p.K975fs|NM_001127510,p.K993fs|NM_001127511,p.K975fs|ENST00000508376,p.K993fs|ENST00000257430,p.K993fs|NM_000038,p.K993fs|uc003kpy.4,p.K993fs|uc011cvt.2,p.K975fs|ENST00000457016,p.K993fs|uc010jca.3,p.K293fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cvt.2	frameshift deletion	exon14	c.2923delA	p.K975fs	PSIESYSEDDESKFCSYGQYPADLA	PSIESYSEDDESSFAVMVNTQPT	8.0	10.0	-	-	4287_5:112174268-112174268 A>-_PSIESYSEDDESSFAVMVNTQPT
17:73265484-73265484 C>A	1.0	4287	COLON	-	-	ID=COSM984335;OCCURENCE=1(endometrium)	-	MIF4GD	uc002jnp.3,p.R43M|NM_001242500,p.R43M|ENST00000577542,p.R50M|uc002jnq.3,p.R50M|ENST00000245551,p.R43M|ENST00000579612,p.R43M|ENST00000579297,p.R50M|ENST00000579194,p.R50M|NM_001242498,p.R50M|NM_020679,p.R43M	retained_intron, protein_coding	uc002jnq.3	nonsynonymous SNV	exon3	c.G149T	p.R50M	FETEDGEYSVCQRSYSNCSRLMPSR	FETEDGEYSVCQMSYSNCSRLMPSR	8.0	8.0	-	-	4287_17:73265484-73265484 C>A_FETEDGEYSVCQMSYSNCSRLMPSR
19:50333091-50333091 C>T	1.0	4287	COLON	0	-	-	-	MED25	uc002ppw.2,p.R192W|NM_030973,p.R192W|ENST00000595185,p.R192W|ENST00000312865,p.R192W	retained_intron, protein_coding	uc002ppw.2	nonsynonymous SNV	exon6	c.C574T	p.R192W	FSIVSPRKLPALRLLFEKAAPPALL	FSIVSPRKLPALWLLFEKAAPPALL	9.0	10.0	-	-	4287_19:50333091-50333091 C>T_FSIVSPRKLPALWLLFEKAAPPALL
7:44621661-44621661 C>T	1.0	4287	COLON	-	-	-	-	TMED4	ENST00000457408,p.E49K|NM_182547,p.E49K|ENST00000289577,p.E49K|uc003tli.3,p.E49K|uc003tlk.3,p.E49K|ENST00000481238,p.E49K	retained_intron, protein_coding, processed_transcript	uc003tlk.3	nonsynonymous SNV	exon1	c.G145A	p.E49K	TEKRCFIEEIPDETMVIGNYRTQMW	TEKRCFIEEIPDKTMVIGNYRTQMW	9.0	8.0	-	-	4287_7:44621661-44621661 C>T_TEKRCFIEEIPDKTMVIGNYRTQMW
18:47405409-47405409 T>A	1.0	4287	COLON	-	-	-	-	MYO5B	NM_001080467,p.E1061V|uc002lea.2,p.E202V|uc002leb.2,p.E1061V|ENST00000285039,p.E1061V|ENST00000324581,p.E202V	retained_intron, protein_coding, processed_transcript	uc002leb.2	nonsynonymous SNV	exon24	c.A3182T	p.E1061V	NSVKENLMKKELEEERSRYQNLVKE	NSVKENLMKKELVEERSRYQNLVKE	10.0	2.0	-	-	4287_18:47405409-47405409 T>A_NSVKENLMKKELVEERSRYQNLVKE
11:125503125-125503125 G>T	1.0	4287	COLON	-	-	-	-	CHEK1	ENST00000278916,p.L164F|uc001qcf.4,p.L164F|ENST00000427383,p.L180F|ENST00000438015,p.L164F|ENST00000527013,p.L164F|uc001qcg.4,p.L164F|ENST00000534070,p.L164F|NM_001114121,p.L164F|ENST00000428830,p.L164F|uc009zbo.3,p.L164F|uc010sbh.2,p.L180F|NM_001244846,p.L164F|uc010sbi.2,p.L164F|ENST00000532669,p.L85F|ENST00000544373,p.L164F|ENST00000524737,p.L164F|NM_001274,p.L164F|uc009zbp.3,p.L164F|NM_001114122,p.L164F	retained_intron, protein_coding, processed_transcript	uc010sbi.2	nonsynonymous SNV	exon6	c.G492T	p.L164F	ATVFRYNNRERLLNKMCGTLPYVAP	ATVFRYNNRERLFNKMCGTLPYVAP	9.0	5.0	-	-	4287_11:125503125-125503125 G>T_ATVFRYNNRERLFNKMCGTLPYVAP
7:63727095-63727095 G>T	1.0	4287	COLON	-	-	-	-	ZNF679	ENST00000255746,p.A362S|NM_153363,p.A362S|uc003tsx.3,p.A362S|ENST00000421025,p.A362S	protein_coding	uc003tsx.3	nonsynonymous SNV	exon5	c.G1084T	p.A362S	KPYKCKECGKAFAFSSTLNTHKRIH	KPYKCKECGKAFSFSSTLNTHKRIH	7.0	1.0	unscreened	-	4287_7:63727095-63727095 G>T_KPYKCKECGKAFSFSSTLNTHKRIH
2:12880535-12880535 C>T	0.0	4287	COLON	-	-	-	-	TRIB2	uc010yjp.2,p.P80L|uc002rbv.4,p.P216L|NM_021643,p.P216L|ENST00000155926,p.P216L|ENST00000381465,p.P80L	protein_coding, processed_transcript	uc010yjp.2	nonsynonymous SNV	exon3	c.C239T	p.P80L	GDDDSLSDKHGCPAYVSPEILNTSG	GDDDSLSDKHGCLAYVSPEILNTSG	6.0	3.0	unscreened	-	4287_2:12880535-12880535 C>T_GDDDSLSDKHGCLAYVSPEILNTSG
8:23059346-23059346 C>T	1.0	4287	COLON	-	-	-	-	TNFRSF10A	NM_003844,p.E202K|ENST00000221132,p.E202K|uc003xda.3,p.E202K	retained_intron, protein_coding	uc003xda.3	nonsynonymous SNV	exon4	c.G604A	p.E202K	CKPGTFRNDNSAEMCRKCSRGCPRG	CKPGTFRNDNSAKMCRKCSRGCPRG	8.0	8.0	-	-	4287_8:23059346-23059346 C>T_CKPGTFRNDNSAKMCRKCSRGCPRG
15:71305224-71305224 C>T	0.0	4287	COLON	-	-	-	-	LRRC49	ENST00000560691,p.R265C|ENST00000260382,p.R559C|NM_017691,p.R559C|NM_001284357,p.R549C|uc002asy.3,p.R265C|uc010ukf.2,p.R564C|NM_001199017,p.R564C|ENST00000560369,p.R564C|ENST00000560158,p.R247C|uc002asz.3,p.R531C|NM_001199018,p.R515C|uc002asx.3,p.R515C|ENST00000443425,p.R515C|ENST00000544974,p.R549C|uc002asu.3,p.R549C|uc002asw.3,p.R559C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ukf.2	nonsynonymous SNV	exon14	c.C1690T	p.R564C	LAHVASSELPQYRLISILGDARKKQ	LAHVASSELPQYCLISILGDARKKQ	7.0	3.0	unscreened	-	4287_15:71305224-71305224 C>T_LAHVASSELPQYCLISILGDARKKQ
1:225541540-225541540 C>T	1.0	4287	COLON	-	-	-	-	DNAH14	NM_001373,p.P3764S|ENST00000430092,p.P3764S|uc001how.2,p.P3764S|ENST00000439375,p.P3764S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001how.2	nonsynonymous SNV	exon71	c.C11290T	p.P3764S	TELLNENKETCNPINFPWEKLTSFQ	TELLNENKETCNSINFPWEKLTSFQ	8.0	9.0	-	-	4287_1:225541540-225541540 C>T_TELLNENKETCNSINFPWEKLTSFQ
10:51620361-51620361 G>C	1.0	4287	COLON	-	rs148307270	-	-	TIMM23	ENST00000374064,p.S43C|ENST00000374065,p.S43C|uc010qhg.3,p.S43C|uc001jiu.4,p.S43C|NM_006327,p.S43C|ENST00000260867,p.S43C	protein_coding, processed_transcript	uc010qhg.3	nonsynonymous SNV	exon2	c.C128G	p.S43C	LAGVPLTGMNPLSPYLNVDPRYLVQ	LAGVPLTGMNPLCPYLNVDPRYLVQ	10.0	3.0	unscreened	-	4287_10:51620361-51620361 G>C_LAGVPLTGMNPLCPYLNVDPRYLVQ
3:52088115-52088115 C>T	1.0	4287	COLON	-	-	-	-	DUSP7	uc010hma.2,p.V265M|ENST00000296483,p.V214M|ENST00000495880,p.V265M|ENST00000469623,p.V198M|NM_001947,p.V265M|uc003dct.3,p.V265M	protein_coding	uc010hma.2	nonsynonymous SNV	exon2	c.G793A	p.V265M	YLGCAKDSTNLDVLGKYGIKYILNV	YLGCAKDSTNLDMLGKYGIKYILNV	5.0	4.0	-	-	4287_3:52088115-52088115 C>T_YLGCAKDSTNLDMLGKYGIKYILNV
20:62166317-62166317 T>G	0.0	4287	COLON	-	-	-	1	PTK6	NM_005975,p.K109T|uc002yfg.4,p.K109T|ENST00000217185,p.K109T	protein_coding	uc002yfg.4	nonsynonymous SNV	exon2	c.A326C	p.K109T	NATGAFLIRVSEKPSADYVLSVRDT	NATGAFLIRVSETPSADYVLSVRDT	7.0	7.0	unscreened	-	4287_20:62166317-62166317 T>G_NATGAFLIRVSETPSADYVLSVRDT
1:64672480-64672480 C>G	0.0	4287	COLON	-	-	-	-	UBE2U	ENST00000371076,p.S61W|uc001dbn.1,p.S61W|ENST00000371077,p.S61W|NM_152489,p.S61W	protein_coding, processed_transcript	uc001dbn.1	nonsynonymous SNV	exon3	c.C182G	p.S61W	QGLVFQLTIHFTSEYNYAPPVVKFI	QGLVFQLTIHFTWEYNYAPPVVKFI	1.0	4.0	unscreened	-	4287_1:64672480-64672480 C>G_QGLVFQLTIHFTWEYNYAPPVVKFI
7:141170371-141170371 G>T	1.0	4287	COLON	-	-	-	-	TMEM178B	ENST00000565468,p.A224S|NM_001195278,p.A224S|uc003vwg.2,p.A224S	retained_intron, protein_coding	uc003vwg.2	nonsynonymous SNV	exon4	c.G670T	p.A224S	GTFCIISLCTCVAGINFELSRYPRY	GTFCIISLCTCVSGINFELSRYPRY	4.0	10.0	-	-	4287_7:141170371-141170371 G>T_GTFCIISLCTCVSGINFELSRYPRY
7:94898716-94898716 G>A	1.0	4287	COLON	-	-	-	-	PPP1R9A	uc003unr.3,p.M58I|ENST00000289495,p.M967I|NM_001166160,p.M1007I|ENST00000456331,p.M985I|uc011kif.2,p.M967I|ENST00000433360,p.M1007I|NM_001166162,p.M985I|uc003unq.3,p.M985I|uc010lfj.3,p.M1007I|NM_001166161,p.M967I|ENST00000424654,p.M985I	protein_coding	uc011kif.2	nonsynonymous SNV	exon12	c.G2901A	p.M967I	EPLDPEMGPLSSMWGDTSLFSTSKS	EPLDPEMGPLSSIWGDTSLFSTSKS	6.0	9.0	-	-	4287_7:94898716-94898716 G>A_EPLDPEMGPLSSIWGDTSLFSTSKS
9:37888304-37888304 G>T	1.0	4287	COLON	-	-	-	-	SLC25A51	uc022bgx.1,p.R82S|ENST00000380590,p.R82S|uc004aav.2,p.R82S|NM_033412,p.R82S|ENST00000242275,p.R82S|ENST00000377716,p.R82S	protein_coding, processed_transcript	uc022bgx.1	nonsynonymous SNV	exon1	c.C244A	p.R82S	LQLRRDGFRNLYRGILPPLMQKTTT	LQLRRDGFRNLYSGILPPLMQKTTT	6.0	10.0	-	-	4287_9:37888304-37888304 G>T_LQLRRDGFRNLYSGILPPLMQKTTT
X:53561113-53561113 G>A	1.0	4287	COLON	-	-	-	-	HUWE1	NM_031407,p.R4293C|ENST00000262854,p.R4293C|ENST00000342160,p.R4293C|uc004dsp.4,p.R4293C|uc004dsn.4,p.R3101C	protein_coding, processed_transcript	uc004dsp.4	nonsynonymous SNV	exon83	c.C12877T	p.R4293C	FWRALRSFDQADRAKFLQFVTGTSK	FWRALRSFDQADCAKFLQFVTGTSK	10.0	10.0	-	-	4287_X:53561113-53561113 G>A_FWRALRSFDQADCAKFLQFVTGTSK
11:57576887-57576887 A>G	1.0	4287	COLON	-	-	-	2	CTNND1	uc001nlw.4,p.K688R|uc001nlx.4,p.K472R|uc001nlu.4,p.K688R|uc001nmb.4,p.K466R|uc001nlt.4,p.K688R|uc001nlm.4,p.K789R|ENST00000399050,p.K795R|NM_001206885,p.K795R|uc001nmd.4,p.K741R|NM_001085459,p.K789R|NM_001085458,p.K795R|NM_001331,p.K789R|uc001nlr.4,p.K735R|ENST00000532787,p.K688R|NM_001206888,p.K735R|NM_001206887,p.K735R|ENST00000526938,p.K795R|uc001nma.4,p.K466R|ENST00000361796,p.K789R|uc001nmc.4,p.K795R|ENST00000526772,p.K466R|NM_001085463,p.K694R|ENST00000531014,p.K466R|ENST00000532245,p.K688R|uc009ymn.3,p.K466R|ENST00000530094,p.K688R|ENST00000426142,p.K688R|ENST00000526357,p.K735R|NM_001085465,p.K688R|uc001nlz.4,p.K472R|uc021qjk.1,p.K789R|uc001nli.4,p.K789R|NM_001085461,p.K789R|uc001nlh.1,p.K795R|ENST00000428599,p.K789R|NM_001085462,p.K789R|ENST00000532463,p.K688R|uc001nlk.4,p.K741R|ENST00000529986,p.K688R|NM_001206891,p.K735R|ENST00000525902,p.K472R|NM_001085468,p.K688R|uc001nlq.4,p.K694R|ENST00000529919,p.K795R|ENST00000360682,p.K795R|uc001nlp.4,p.K735R|NM_001206890,p.K688R|ENST00000529873,p.K735R|ENST00000399039,p.K795R|ENST00000524630,p.K789R|ENST00000532649,p.K735R|uc001nlv.4,p.K688R|NM_001085469,p.K688R|ENST00000415361,p.K694R|ENST00000533667,p.K466R|ENST00000361332,p.K789R|uc001nme.4,p.K789R|NM_001085466,p.K694R|ENST00000527467,p.K472R|uc001nmf.4,p.K795R|uc001nln.4,p.K789R|uc001nly.4,p.K466R|NM_001206883,p.K741R|ENST00000532844,p.K741R|NM_001085460,p.K789R|ENST00000530748,p.K741R|uc001nmi.4,p.K694R|uc001nmg.4,p.K735R|NM_001085464,p.K688R|uc001nll.4,p.K735R|NM_001206886,p.K735R|uc001nmh.4,p.K789R|ENST00000358694,p.K789R|ENST00000528621,p.K735R|uc001nlf.2,p.K795R|ENST00000529526,p.K735R|NM_001206889,p.K735R|ENST00000361391,p.K789R|uc001nls.4,p.K688R|NM_001206884,p.K741R|ENST00000534579,p.K735R|uc001nlo.4,p.K688R|uc001nlj.4,p.K735R|ENST00000528232,p.K694R|NM_001085467,p.K688R	retained_intron, protein_coding	uc021qjk.1	nonsynonymous SNV	exon14	c.A2366G	p.K789R	NEVIAENLEAAKKLRETQGIEKLVL	NEVIAENLEAAKRLRETQGIEKLVL	9.0	5.0	-	-	4287_11:57576887-57576887 A>G_NEVIAENLEAAKRLRETQGIEKLVL
18:13117588-13117588 A>C	1.0	4287	COLON	-	-	-	-	CEP192	ENST00000506447,p.K2474T|uc002krx.3,p.K478T|ENST00000430049,p.K1999T|ENST00000325971,p.K1878T|uc002krv.3,p.K897T|uc010xac.2,p.K2474T|NM_032142,p.K2474T|uc010xad.2,p.K1999T	protein_coding, processed_transcript, nonsense_mediated_decay	uc010xad.2	nonsynonymous SNV	exon34	c.A5996C	p.K1999T	NLRNNSFITHSLKFLSPREPFYVKH	NLRNNSFITHSLTFLSPREPFYVKH	8.0	4.0	-	-	4287_18:13117588-13117588 A>C_NLRNNSFITHSLTFLSPREPFYVKH
2:238277697-238277697 G>T	0.0	4287	COLON	-	-	-	-	COL6A3	NM_057167,p.P1264H|uc002vwl.2,p.P1470H|ENST00000353578,p.P1264H|ENST00000295550,p.P1470H|NM_057166,p.P863H|ENST00000346358,p.P1270H|ENST00000472056,p.P863H|ENST00000347401,p.P1269H|NM_004369,p.P1470H|uc010znj.1,p.P863H|uc002vwo.2,p.P1264H|ENST00000409809,p.P1264H	retained_intron, protein_coding, processed_transcript	uc010znj.1	nonsynonymous SNV	exon7	c.C2588A	p.P863H	FVSRIVRRLNIGPSKVRVGVVQFSN	FVSRIVRRLNIGHSKVRVGVVQFSN	9.0	8.0	-	-	4287_2:238277697-238277697 G>T_FVSRIVRRLNIGHSKVRVGVVQFSN
X:12828249-12828249 G>A	1.0	4287	COLON	-	-	ID=COSM1465490;OCCURENCE=1(large_intestine)	-	PRPS2	ENST00000489404,p.A172T	protein_coding, processed_transcript	ENST00000489404	nonsynonymous SNV	exon4	c.G514A	p.A172T	AEWKNCIIVSPDAGGAKRYHAGYTL	AEWKNCIIVSPDTGGAKRYHAGYTL	9.0	9.0	unscreened	-	4287_X:12828249-12828249 G>A_AEWKNCIIVSPDTGGAKRYHAGYTL
14:65055914-65055914 C>T	1.0	4287	COLON	-	-	-	-	PPP1R36	uc001xhl.1,p.T376M|uc001xhm.1,p.T106M|NM_172365,p.T376M|ENST00000298705,p.T376M	retained_intron, protein_coding, nonsense_mediated_decay	uc001xhm.1	nonsynonymous SNV	exon3	c.C317T	p.T106M	ILGEPRCLFNPHTLHPLDPEENTKS	ILGEPRCLFNPHMLHPLDPEENTKS	6.0	10.0	-	-	4287_14:65055914-65055914 C>T_ILGEPRCLFNPHMLHPLDPEENTKS
9:87563455-87563455 C>T	0.0	4287	COLON	-	-	ID=COSM1725637,COSM1725636;OCCURENCE=1(liver)	-	NTRK2	uc004aoa.1,p.H599Y|uc004any.1,p.H599Y|uc004anz.1,p.H615Y|ENST00000376213,p.H599Y|NM_001018064,p.H599Y|ENST00000277120,p.H615Y|ENST00000376214,p.H615Y|NM_006180,p.H615Y|ENST00000323115,p.H599Y	protein_coding	uc004aoa.1	nonsynonymous SNV	exon17	c.C1795T	p.H599Y	REAELLTNLQHEHIVKFYGVCVEGD	REAELLTNLQHEYIVKFYGVCVEGD	6.0	7.0	unscreened	-	4287_9:87563455-87563455 C>T_REAELLTNLQHEYIVKFYGVCVEGD
2:139308164-139308168 AAAAT>-	1.0	4287	COLON	-	-	-	-	SPOPL	ENST00000430968,p.K64fs	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000430968	frameshift deletion	exon3	c.190_194del	p.K64fs	LKSSTFSSGPSDKMKCQLPQK	LKSSTFSSGPSDEMSAAPKV	8.0	3.0	unscreened	-	4287_2:139308164-139308168 AAAAT>-_LKSSTFSSGPSDEMSAAPKV
2:191524491-191524491 C>T	1.0	4287	COLON	-	-	-	-	NAB1	ENST00000409581,p.L197F|ENST00000357215,p.L197F|uc010zgh.2,p.L197F|uc010fsc.3,p.L197F|uc002usb.3,p.L197F|NM_005966,p.L197F|uc002usc.3,p.L197F|ENST00000337386,p.L197F|uc010fsd.3,p.L197F|ENST00000409641,p.L197F	protein_coding, processed_transcript	uc010zgh.2	nonsynonymous SNV	exon1	c.C589T	p.L197F	KESSEALDAAAALSVAECVERMAPT	KESSEALDAAAAFSVAECVERMAPT	8.0	7.0	-	-	4287_2:191524491-191524491 C>T_KESSEALDAAAAFSVAECVERMAPT
20:21337198-21337226 GAGATCAGGAATGCATTTTTCCACAGCCA>-	0.0	4287	COLON	-	-	-	-	XRN2	uc002wsf.1,p.707_707del|ENST00000539513,p.653_653del|ENST00000430571,p.631_631del|ENST00000377191,p.707_707del|NM_012255,p.707_707del|uc010zsk.1,p.653_653del|uc002wsg.1,p.631_631del	protein_coding	uc010zsk.1	nonframeshift deletion	exon23	c.1957_1959del	p.653_653del	FILELYQTGSTEPVEVPPELCHGIQ	FILELYQTGSTEVEVPPELCHGIQG	10.0	1.0	unscreened	-	4287_20:21337198-21337226 GAGATCAGGAATGCATTTTTCCACAGCCA>-_FILELYQTGSTEVEVPPELCHGIQG
6:28056682-28056682 G>T	1.0	4287	COLON	-	-	-	-	ZNF165	uc021yro.1,p.D298Y|uc003nki.4,p.D298Y|NM_003447,p.D298Y|ENST00000377325,p.D298Y|uc003nkh.3,p.D298Y	protein_coding	uc021yro.1	nonsynonymous SNV	exon4	c.G892T	p.D298Y	FTHQKSCKHGTCDQSFKWNSDFINH	FTHQKSCKHGTCYQSFKWNSDFINH	6.0	6.0	unscreened	-	4287_6:28056682-28056682 G>T_FTHQKSCKHGTCYQSFKWNSDFINH
20:62166317-62166317 T>G	0.0	4287	COLON	-	-	-	1	PTK6	uc011aba.3,p.K109T	protein_coding	uc011aba.3	nonsynonymous SNV	exon2	c.A326C	p.K109T	NATGAFLIRVSEKPSADYVLSGAAP	NATGAFLIRVSETPSADYVLSGAAP	7.0	7.0	unscreened	-	4287_20:62166317-62166317 T>G_NATGAFLIRVSETPSADYVLSGAAP
14:36192281-36192281 G>T	1.0	4287	COLON	-	-	-	-	RALGAPA1	uc010tpw.1,p.P686T|NM_001283043,p.P686T|uc001wtj.3,p.P686T|ENST00000258840,p.P686T|ENST00000307138,p.P686T|NM_001283044,p.P686T|ENST00000389698,p.P686T|ENST00000382366,p.P686T|NM_194301,p.P686T|uc001wtk.1,p.P537T|NM_014990,p.P686T|ENST00000553892,p.P686T|uc001wti.3,p.P686T|uc010tpv.2,p.P686T	retained_intron, protein_coding, processed_transcript	uc010tpw.1	nonsynonymous SNV	exon15	c.C2056A	p.P686T	ARNLYSLDLSDLPLDKLSEQKQKKH	ARNLYSLDLSDLTLDKLSEQKQKKH	8.0	8.0	-	-	4287_14:36192281-36192281 G>T_ARNLYSLDLSDLTLDKLSEQKQKKH
19:9958784-9958784 A>T	1.0	4287	COLON	-	-	-	-	PIN1	uc002mml.2,p.K117M|NM_006221,p.K117M|ENST00000247970,p.K117M|ENST00000588695,p.K117M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mml.2	nonsynonymous SNV	exon3	c.A350T	p.K117M	SLASQFSDCSSAKARGDLGAFSRGQ	SLASQFSDCSSAMARGDLGAFSRGQ	9.0	1.0	unscreened	-	4287_19:9958784-9958784 A>T_SLASQFSDCSSAMARGDLGAFSRGQ
18:8076505-8076505 G>C	1.0	4287	COLON	-	-	-	-	PTPRM	NM_002845,p.K498N|ENST00000400060,p.K498N|ENST00000444013,p.K285N|ENST00000400053,p.K436N|uc002knn.4,p.K498N|ENST00000332175,p.K498N|uc010wzl.2,p.K285N|NM_001105244,p.K498N|uc010dkv.3,p.K498N|ENST00000580170,p.K498N	retained_intron, protein_coding, processed_transcript	uc010wzl.2	nonsynonymous SNV	exon5	c.G855C	p.K285N	PTESIQGSTFEEKIFLQWREPTQTY	PTESIQGSTFEENIFLQWREPTQTY	7.0	9.0	-	-	4287_18:8076505-8076505 G>C_PTESIQGSTFEENIFLQWREPTQTY
5:179334791-179334791 C>A	1.0	4287	COLON	-	-	-	-	TBC1D9B	NM_198868,p.A11S|uc003mli.3,p.A11S|ENST00000355235,p.A11S|NM_015043,p.A11S|uc003mlj.3,p.A11S|ENST00000522224,p.A11S|ENST00000356834,p.A11S|uc003mlh.3,p.A11S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003mlj.3	nonsynonymous SNV	exon1	c.G31T	p.A11S	MWLSPEEVLVANALWVTERANPF	MWLSPEEVLVSNALWVTERANPF	9.0	2.0	unscreened	-	4287_5:179334791-179334791 C>A_MWLSPEEVLVSNALWVTERANPF
1:185267310-185267310 T>A	1.0	4287	COLON	-	-	-	-	IVNS1ABP	uc001grj.3,p.R256W|ENST00000367498,p.R596W|uc009wyj.3,p.R378W|ENST00000392007,p.R378W|NM_006469,p.R596W|uc001gri.3,p.R256W|uc001grl.3,p.R596W	retained_intron, protein_coding, processed_transcript	uc009wyj.3	nonsynonymous SNV	exon15	c.A1132T	p.R378W	NEWKMMGNMTSPRSNAGIATVGNTI	NEWKMMGNMTSPWSNAGIATVGNTI	9.0	6.0	-	-	4287_1:185267310-185267310 T>A_NEWKMMGNMTSPWSNAGIATVGNTI
19:9958784-9958784 A>T	1.0	4287	COLON	-	-	-	-	PIN1	uc002mmk.2,p.K117M|ENST00000587625,p.K117M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mmk.2	nonsynonymous SNV	exon3	c.A350T	p.K117M	SLASQFSDCSSAKARGDLGAFSRGA	SLASQFSDCSSAMARGDLGAFSRGA	9.0	1.0	unscreened	-	4287_19:9958784-9958784 A>T_SLASQFSDCSSAMARGDLGAFSRGA
7:143088598-143088598 G>-	1.0	4287	COLON	-	-	-	-	EPHA1	NM_005232,p.P961fs|ENST00000275815,p.P961fs|uc003wcz.3,p.P961fs	retained_intron, protein_coding, processed_transcript	uc003wcz.3	frameshift deletion	exon18	c.2883delC	p.P961fs	TAEDLTQMGITLPGHQKRILCSIQG	TAEDLTQMGITLPGTRSAFFAVFRDSRT	7.0	5.0	unscreened	-	4287_7:143088598-143088598 G>-_TAEDLTQMGITLPGTRSAFFAVFRDSRT
7:92764785-92764785 G>A	1.0	4287	COLON	-	-	-	-	SAMD9L	ENST00000437805,p.P167L|ENST00000318238,p.P167L|uc003umh.1,p.P167L|NM_152703,p.P167L|uc003umk.1,p.P167L|uc010lfc.1,p.P167L|uc010lfd.1,p.P167L|uc003umi.1,p.P167L|uc022ahh.1,p.P167L|ENST00000411955,p.P167L|uc010lfb.1,p.P167L|uc003umj.1,p.P167L	protein_coding, processed_transcript	uc022ahh.1	nonsynonymous SNV	exon1	c.C500T	p.P167L	KLKPEQLTCMPYPFDQFHDSHRYIE	KLKPEQLTCMPYLFDQFHDSHRYIE	5.0	4.0	unscreened	-	4287_7:92764785-92764785 G>A_KLKPEQLTCMPYLFDQFHDSHRYIE
20:23614602-23614602 G>A	1.0	4287	COLON	-	-	-	-	CST3	NM_000099,p.P131L|uc002wtm.3,p.P131L|NM_001288614,p.P131L|ENST00000398411,p.P131L|uc002wtn.1,p.P131L|ENST00000398409,p.P131L|ENST00000376925,p.P131L	protein_coding	uc002wtn.1	nonsynonymous SNV	exon3	c.C392T	p.P131L	RKAFCSFQIYAVPWQGTMTLSKSTC	RKAFCSFQIYAVLWQGTMTLSKSTC	10.0	1.0	-	-	4287_20:23614602-23614602 G>A_RKAFCSFQIYAVLWQGTMTLSKSTC
12:123970291-123970291 T>A	1.0	4287	COLON	-	-	-	-	RILPL1	uc001ufe.2,p.D288V|NM_178314,p.D288V|uc001ufd.2,p.D137V|ENST00000340724,p.D136V|uc010tas.1,p.D288V|ENST00000376874,p.D288V	protein_coding	uc010tas.1	nonsynonymous SNV	exon5	c.A863T	p.D288V	ISDAEKVAMDLKDPNRPRFTLQELR	ISDAEKVAMDLKVPNRPRFTLQELR	5.0	3.0	-	-	4287_12:123970291-123970291 T>A_ISDAEKVAMDLKVPNRPRFTLQELR
21:42778815-42778815 C>T	1.0	4287	COLON	-	-	-	-	MX2	ENST00000330714,p.P599S|NM_002463,p.P599S|uc002yzf.1,p.P599S|uc010gop.1,p.P81S|uc002yzg.1,p.P322S	retained_intron, protein_coding, processed_transcript	uc010gop.1	nonsynonymous SNV	exon4	c.C241T	p.P81S	VVLKKVREEIFNPLGTPSQNMKLNS	VVLKKVREEIFNSLGTPSQNMKLNS	6.0	5.0	-	-	4287_21:42778815-42778815 C>T_VVLKKVREEIFNSLGTPSQNMKLNS
12:21636419-21636419 G>T	1.0	4287	COLON	-	-	-	-	RECQL	uc001rex.3,p.S197R|ENST00000444129,p.S197R|NM_002907,p.S197R|uc001rey.3,p.S197R|ENST00000396093,p.S197R|ENST00000421138,p.S197R|NM_032941,p.S197R	protein_coding	uc001rey.3	nonsynonymous SNV	exon6	c.C591A	p.S197R	KLIYVTPEKIAKSKMFMSRLEKAYE	KLIYVTPEKIAKRKMFMSRLEKAYE	7.0	8.0	-	-	4287_12:21636419-21636419 G>T_KLIYVTPEKIAKRKMFMSRLEKAYE
3:121410312-121410313 TC>-	0.0	4287	COLON	-	-	-	-	GOLGB1	NM_001256488,p.G2553fs|NM_001256487,p.G2594fs|uc010hrc.4,p.G2633fs|uc021xcy.2,p.G2553fs|uc003eej.5,p.G2594fs|NM_001256486,p.G2633fs|uc003eei.5,p.G2628fs|ENST00000393667,p.G2633fs|ENST00000340645,p.G2628fs|NM_004487,p.G2628fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xcy.2	frameshift deletion	exon13	c.7658_7659del	p.G2553fs	RQVTALQEEGTLGLYHAQLKVKEEE	RQVTALQEEGTLALSCPVKSKRRRGTQVKCFVFLLSKENCRTGRRIGLCSKGSCQEGR	8.0	1.0	unscreened	-	4287_3:121410312-121410313 TC>-_RQVTALQEEGTLALSCPVKSKRRRGTQVKCFVFLLSKENCRTGRRIGLCSKGSCQEGR
10:135089031-135089031 C>T	0.0	4287	COLON	0.01	-	-	-	ADAM8	ENST00000486609,p.R36H|NM_001164489,p.R36H|ENST00000415217,p.R36H|ENST00000445355,p.R36H|uc021qbe.1,p.R36H|uc009ybi.3,p.R36H|NM_001109,p.R36H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qbe.1	nonsynonymous SNV	exon2	c.G107A	p.R36H	ALMEQYEVVLPWRLPGPRVRRALPS	ALMEQYEVVLPWHLPGPRVRRALPS	6.0	10.0	-	-	4287_10:135089031-135089031 C>T_ALMEQYEVVLPWHLPGPRVRRALPS
13:39264378-39264378 C>T	0.0	4287	COLON	-	-	-	-	FREM2	NM_207361,p.A966V|uc001uwv.3,p.A966V|ENST00000280481,p.A966V	protein_coding, processed_transcript	uc001uwv.3	nonsynonymous SNV	exon1	c.C2897T	p.A966V	LDVLENGATEITANVIKGTNEETDD	LDVLENGATEITVNVIKGTNEETDD	6.0	8.0	-	-	4287_13:39264378-39264378 C>T_LDVLENGATEITVNVIKGTNEETDD
11:119044250-119044250 C>T	1.0	4287	COLON	-	-	-	-	NLRX1	uc001pvu.3,p.R98C|ENST00000525863,p.R98C|ENST00000409109,p.R98C|ENST00000422249,p.R98C|NM_001282358,p.R98C|ENST00000292199,p.R98C|NM_001282144,p.R98C|uc001pvw.3,p.R98C|uc001pvx.3,p.R98C|ENST00000454811,p.R98C|NM_001282143,p.R98C|ENST00000409265,p.R98C|NM_024618,p.R98C|ENST00000449394,p.R98C|uc001pvv.3,p.R98C|ENST00000409991,p.R98C	retained_intron, protein_coding, processed_transcript	uc001pvx.3	nonsynonymous SNV	exon5	c.C292T	p.R98C	LAEWFSRLPREERQFGPTFALDTVH	LAEWFSRLPREECQFGPTFALDTVH	5.0	9.0	-	-	4287_11:119044250-119044250 C>T_LAEWFSRLPREECQFGPTFALDTVH
6:37441358-37441358 A>C	1.0	4287	COLON	-	-	ID=COSM1444156;OCCURENCE=1(large_intestine)	-	CMTR1	uc003ons.3,p.K601T|NM_015050,p.K601T|ENST00000373451,p.K601T	protein_coding, processed_transcript, nonsense_mediated_decay	uc003ons.3	nonsynonymous SNV	exon17	c.A1802C	p.K601T	FDYRCMVSGSEQKFLIGLGKSQIYT	FDYRCMVSGSEQTFLIGLGKSQIYT	9.0	5.0	CD8	-	4287_6:37441358-37441358 A>C_FDYRCMVSGSEQTFLIGLGKSQIYT
2:171914695-171914695 C>T	1.0	4287	COLON	-	-	-	-	TLK1	uc002ugo.2,p.G161E|ENST00000453628,p.G65E|ENST00000360843,p.G161E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ugo.2	nonsynonymous SNV	exon6	c.G482A	p.G161E	WEMGRTAGGKSIGGRGHKISDYFEY	WEMGRTAGGKSIEGRGHKISDYFEY	10.0	1.0	unscreened	-	4287_2:171914695-171914695 C>T_WEMGRTAGGKSIEGRGHKISDYFEY
2:171914695-171914695 C>T	1.0	4287	COLON	-	-	-	-	TLK1	uc010zdn.1,p.G44E|uc002ugp.2,p.G92E|ENST00000409443,p.G140E|ENST00000521943,p.G92E|ENST00000442919,p.G92E|NM_001136555,p.G44E|ENST00000431350,p.G140E|uc002ugn.2,p.G140E|ENST00000434911,p.G44E|NM_012290,p.G140E|NM_001136554,p.G92E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zdn.1	nonsynonymous SNV	exon3	c.G131A	p.G44E	ENQNESSQGKSIGGRGHKISDYFEY	ENQNESSQGKSIEGRGHKISDYFEY	10.0	1.0	unscreened	-	4287_2:171914695-171914695 C>T_ENQNESSQGKSIEGRGHKISDYFEY
12:112623270-112623270 G>T	0.0	4287	COLON	-	-	-	-	HECTD4	ENST00000430131,p.A2745E|NM_001109662,p.A3033E|ENST00000550722,p.A3021E|uc021reb.1,p.A3033E|ENST00000377560,p.A2995E	retained_intron, protein_coding, processed_transcript	uc021reb.1	nonsynonymous SNV	exon61	c.C9098A	p.A3033E	ELLGNFLWTTDMAACVKELVFHLLA	ELLGNFLWTTDMEACVKELVFHLLA	7.0	5.0	unscreened	-	4287_12:112623270-112623270 G>T_ELLGNFLWTTDMEACVKELVFHLLA
X:64951794-64951794 C>A	0.0	4287	COLON	-	-	-	1	MSN	uc004dwf.3,p.L216M|ENST00000360270,p.L216M|NM_002444,p.L216M	protein_coding, processed_transcript	uc004dwf.3	nonsynonymous SNV	exon6	c.C646A	p.L216M	NYFSIKNKKGSELWLGVDALGLNIY	NYFSIKNKKGSEMWLGVDALGLNIY	9.0	1.0	unscreened	-	4287_X:64951794-64951794 C>A_NYFSIKNKKGSEMWLGVDALGLNIY
7:45217031-45217031 A>T	0.0	4287	COLON	-	-	-	-	RAMP3	ENST00000481345,p.E61V|ENST00000242249,p.E61V|ENST00000496212,p.E61V|NM_005856,p.E61V|uc003tnb.3,p.E61V	protein_coding	uc003tnb.3	nonsynonymous SNV	exon2	c.A182T	p.E61V	GKVDVWKWCNLSEFIVYYESFTNCT	GKVDVWKWCNLSVFIVYYESFTNCT	6.0	2.0	unscreened	-	4287_7:45217031-45217031 A>T_GKVDVWKWCNLSVFIVYYESFTNCT
5:140750742-140750742 G>A	1.0	4287	COLON	-	-	-	-	PCDHGB3	ENST00000576222,p.V261I|uc011dat.2,p.V261I|uc003ljw.2,p.V261I|NM_032097,p.V261I|NM_018924,p.V261I	protein_coding	uc011dat.2	nonsynonymous SNV	exon1	c.G781A	p.V261I	VNVAENLPAGSSVLKVMAIDMDEGI	VNVAENLPAGSSILKVMAIDMDEGI	5.0	5.0	-	-	4287_5:140750742-140750742 G>A_VNVAENLPAGSSILKVMAIDMDEGI
8:144997792-144997792 C>T	1.0	4287	COLON	-	-	-	-	PLEC	NM_201381,p.R2070H|ENST00000436759,p.R2129H|ENST00000398774,p.R2070H|ENST00000354958,p.R2080H|ENST00000357649,p.R2106H|NM_201380,p.R2239H|NM_201379,p.R2080H|uc003zaj.2,p.R2129H|NM_201384,p.R2102H|NM_201378,p.R2088H|NM_201382,p.R2102H|uc003zah.2,p.R2088H|ENST00000356346,p.R2088H|ENST00000527096,p.R2125H|uc003zad.2,p.R2102H|uc003zae.1,p.R2070H|ENST00000354589,p.R2102H|uc003zac.1,p.R2106H|NM_201383,p.R2106H|uc003zag.1,p.R2080H|NM_000445,p.R2129H|ENST00000322810,p.R2239H|ENST00000345136,p.R2102H|uc003zab.1,p.R2102H|uc003zaf.1,p.R2239H	retained_intron, protein_coding	uc003zaj.2	nonsynonymous SNV	exon32	c.G6386A	p.R2129H	AEEAEEARVQAEREAAQSRRQVEEA	AEEAEEARVQAEHEAAQSRRQVEEA	9.0	5.0	unscreened	-	4287_8:144997792-144997792 C>T_AEEAEEARVQAEHEAAQSRRQVEEA
2:162903967-162903967 C>G	0.0	4287	COLON	-	-	-	-	DPP4	NM_001935,p.D47H|uc002ubz.3,p.D47H|ENST00000434918,p.D46H|ENST00000360534,p.D47H|ENST00000413651,p.D47H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ubz.3	nonsynonymous SNV	exon3	c.G139C	p.D47H	ATADSRKTYTLTDYLKNTYRLKLYS	ATADSRKTYTLTHYLKNTYRLKLYS	7.0	6.0	unscreened	-	4287_2:162903967-162903967 C>G_ATADSRKTYTLTHYLKNTYRLKLYS
18:74092082-74092082 C>A	1.0	4287	COLON	-	-	-	-	ZNF516	ENST00000443185,p.R663M|uc021ulp.1,p.R663M|NM_014643,p.R663M	protein_coding, processed_transcript	uc021ulp.1	nonsynonymous SNV	exon4	c.G1988T	p.R663M	SILENSSRETSRRQEQHRFSMDLKM	SILENSSRETSRMQEQHRFSMDLKM	5.0	8.0	unscreened	-	4287_18:74092082-74092082 C>A_SILENSSRETSRMQEQHRFSMDLKM
17:2227099-2227099 T>G	1.0	4287	COLON	-	-	-	-	SRR	uc002fue.1,p.L319V|NM_021947,p.L319V|uc002fui.1,p.L170V|ENST00000344595,p.L319V	protein_coding, processed_transcript	uc002fui.1	nonsynonymous SNV	exon6	c.T508G	p.L170V	NICIVLSGGNVDLTSSITWVKQAER	NICIVLSGGNVDVTSSITWVKQAER	7.0	9.0	-	-	4287_17:2227099-2227099 T>G_NICIVLSGGNVDVTSSITWVKQAER
5:140626735-140626735 G>A	1.0	4287	COLON	-	-	-	-	PCDHB15	uc003lje.3,p.R530H|NM_018935,p.R530H|ENST00000231173,p.R530H	protein_coding	uc003lje.3	nonsynonymous SNV	exon1	c.G1589A	p.R530H	SLDYEALQAFEFRVGATDRGFPALS	SLDYEALQAFEFHVGATDRGFPALS	7.0	10.0	-	-	4287_5:140626735-140626735 G>A_SLDYEALQAFEFHVGATDRGFPALS
7:128484849-128484858 GGACAATGGT>-	0.0	4287	COLON	-	-	-	-	FLNC	uc003vnz.4,p.Q1110fs|NM_001127487,p.Q1110fs|ENST00000325888,p.Q1110fs|uc003voa.4,p.Q1110fs|ENST00000346177,p.Q1110fs|NM_001458,p.Q1110fs	retained_intron, protein_coding	uc003voa.4	frameshift deletion	exon21	c.3330_3339del	p.Q1110fs	TVEGPCEAKIECQDNGDGSCAVSYL	TVEGPCEAKIECQMAHVLSATCPRSLASTPSTSCLLRPTSLARPSKPPFGLCLTRARCGPVDRAWSAARSVRQPPSLWTAQRQARRS	6.0	6.0	unscreened	-	4287_7:128484849-128484858 GGACAATGGT>-_TVEGPCEAKIECQMAHVLSATCPRSLASTPSTSCLLRPTSLARPSKPPFGLCLTRARCGPVDRAWSAARSVRQPPSLWTAQRQARRS
14:21825473-21825473 A>T	1.0	4287	COLON	-	-	-	-	SUPT16H	uc001wao.2,p.V848D|ENST00000216297,p.V848D|NM_007192,p.V848D	retained_intron, protein_coding, nonsense_mediated_decay	uc001wao.2	nonsynonymous SNV	exon22	c.T2543A	p.V848D	TLDEVELIHFERVQFHLKNFDMVIV	TLDEVELIHFERDQFHLKNFDMVIV	8.0	2.0	unscreened	-	4287_14:21825473-21825473 A>T_TLDEVELIHFERDQFHLKNFDMVIV
1:5993334-5993334 G>A	1.0	4287	COLON	-	-	-	-	NPHP4	ENST00000378156,p.A392V|NM_015102,p.A392V|uc001alq.2,p.A392V|ENST00000489180,p.A392V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001alq.2	nonsynonymous SNV	exon10	c.C1175T	p.A392V	LSNLACMHMVRWAVWNPLLEADSGR	LSNLACMHMVRWVVWNPLLEADSGR	5.0	6.0	-	-	4287_1:5993334-5993334 G>A_LSNLACMHMVRWVVWNPLLEADSGR
11:69488012-69488012 G>A	1.0	4287	COLON	-	-	-	-	ORAOV1	ENST00000441922,p.T43M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000441922	nonsynonymous SNV	exon2	c.C128T	p.T43M	SSLGVMEGRQHGTLHGAKIGSEQKD	SSLGVMEGRQHGMLHGAKIGSEQKD	6.0	9.0	-	-	4287_11:69488012-69488012 G>A_SSLGVMEGRQHGMLHGAKIGSEQKD
11:69488012-69488012 G>A	1.0	4287	COLON	-	-	-	-	ORAOV1	uc001ope.1,p.T43M|ENST00000279147,p.T43M|ENST00000535657,p.T43M|ENST00000538554,p.T43M|NM_153451,p.T43M|ENST00000542341,p.T43M|ENST00000539414,p.T43M|uc001opc.3,p.T43M|uc010rqi.1,p.T43M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rqi.1	nonsynonymous SNV	exon2	c.C128T	p.T43M	SSLGVMEGRQHGTLHGAKIGSEIGC	SSLGVMEGRQHGMLHGAKIGSEIGC	6.0	9.0	-	-	4287_11:69488012-69488012 G>A_SSLGVMEGRQHGMLHGAKIGSEIGC
1:203098171-203098171 C>T	1.0	4287	COLON	-	-	-	-	ADORA1	ENST00000367236,p.L68F|NM_000674,p.L68F|ENST00000309502,p.L68F|uc001gze.1,p.L68F|ENST00000337894,p.L68F|uc001gzf.1,p.L68F|NM_001048230,p.L68F|uc010pqh.1,p.L101F|ENST00000367235,p.L68F	protein_coding, processed_transcript	uc010pqh.1	nonsynonymous SNV	exon2	c.C301T	p.L101F	VAVGALVIPLAILINIGPQTYFHTC	VAVGALVIPLAIFINIGPQTYFHTC	2.0	9.0	-	-	4287_1:203098171-203098171 C>T_VAVGALVIPLAIFINIGPQTYFHTC
13:23906753-23906753 G>T	1.0	4287	COLON	-	-	-	-	SACS	NM_014363,p.N3754K|ENST00000382298,p.N3754K|ENST00000402364,p.N3004K|uc001uon.3,p.N3754K|ENST00000382292,p.N3754K|NM_001278055,p.N3607K|uc001uoo.3,p.N3607K	protein_coding, processed_transcript	uc001uoo.3	nonsynonymous SNV	exon8	c.C10821A	p.N3607K	DPPLDKVINNCRNICNITTLDEEMV	DPPLDKVINNCRKICNITTLDEEMV	5.0	10.0	-	-	4287_13:23906753-23906753 G>T_DPPLDKVINNCRKICNITTLDEEMV
2:20818992-20818992 A>C	1.0	4287	COLON	-	-	-	-	HS1BP3	NM_022460,p.L312V|ENST00000304031,p.L312V|uc002rdw.1,p.L312V	protein_coding, nonsense_mediated_decay	uc002rdw.1	nonsynonymous SNV	exon7	c.T934G	p.L312V	DASKELFRVEEDLDQILNLGAEPKP	DASKELFRVEEDVDQILNLGAEPKP	7.0	3.0	unscreened	-	4287_2:20818992-20818992 A>C_DASKELFRVEEDVDQILNLGAEPKP
2:219129286-219129286 T>A	1.0	4287	COLON	-	-	-	-	AAMP	NM_001087,p.K425N|ENST00000444053,p.K426N|uc002vhl.3,p.K426N|uc002vhk.3,p.K425N|ENST00000248450,p.K425N|ENST00000420660,p.K406N	retained_intron, protein_coding	uc002vhl.3	nonsynonymous SNV	exon11	c.A1278T	p.K426N	SLVVTTSGDHKAKVFCVQRPDR	SLVVTTSGDHKANVFCVQRPDR	10.0	2.0	-	-	4287_2:219129286-219129286 T>A_SLVVTTSGDHKANVFCVQRPDR
5:140711241-140711241 A>C	1.0	4287	COLON	-	-	-	-	PCDHGA1	uc011dan.2,p.K330N|ENST00000378105,p.K330N|ENST00000517417,p.K330N|NM_018912,p.K330N|NM_031993,p.K330N|uc003lji.2,p.K330N	protein_coding	uc011dan.2	nonsynonymous SNV	exon1	c.A990C	p.K330N	EVQAQDGAGLMAKVKVLIKVLDVND	EVQAQDGAGLMANVKVLIKVLDVND	6.0	8.0	-	-	4287_5:140711241-140711241 A>C_EVQAQDGAGLMANVKVLIKVLDVND
6:152605135-152605135 G>A	0.0	4287	COLON	0.0009	-	-	-	SYNE1	uc003qos.4,p.S586L|ENST00000448038,p.S5991L|ENST00000265368,p.S6062L|ENST00000423061,p.S5991L|uc003qot.4,p.S5991L|uc003qou.4,p.S6062L|NM_033071,p.S5991L|ENST00000367255,p.S6062L|ENST00000356820,p.S586L|ENST00000341594,p.S5674L|uc010kiy.1,p.S241L|NM_182961,p.S6062L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kiy.1	nonsynonymous SNV	exon4	c.C722T	p.S241L	LAERMSTIRMKASGKRQLLEEKLND	LAERMSTIRMKALGKRQLLEEKLND	7.0	10.0	-	-	4287_6:152605135-152605135 G>A_LAERMSTIRMKALGKRQLLEEKLND
2:114500277-114500277 A>-	1.0	4287	COLON	-	-	ID=COSM111375;OCCURENCE=2(ovary),9(large_intestine),1(pancreas)	-	SLC35F5	uc002tkv.3,p.C242fs|ENST00000409342,p.C242fs	retained_intron, protein_coding, processed_transcript	uc002tkv.3	frameshift deletion	exon7	c.724delT	p.C242fs	TATQVAKISFFFCFVVGLL	TATQVAKISFFFALW	9.0	1.0	unscreened	-	4287_2:114500277-114500277 A>-_TATQVAKISFFFALW
19:49489259-49489259 C>T	1.0	4287	COLON	-	-	-	-	GYS1	NM_002103,p.V176I|ENST00000541188,p.V96I|ENST00000323798,p.V176I|ENST00000540532,p.V96I|uc002plp.3,p.V176I|uc010xzz.2,p.V96I	retained_intron, protein_coding, processed_transcript	uc010xzz.2	nonsynonymous SNV	exon3	c.G286A	p.V96I	EFLAQSEEKPHVVAHFHEWLAGVGL	EFLAQSEEKPHVIAHFHEWLAGVGL	8.0	10.0	-	-	4287_19:49489259-49489259 C>T_EFLAQSEEKPHVIAHFHEWLAGVGL
19:49489259-49489259 C>T	1.0	4287	COLON	-	-	-	-	GYS1	uc010emm.3,p.V112I|ENST00000263276,p.V112I|NM_001161587,p.V112I	retained_intron, protein_coding, processed_transcript	uc010emm.3	nonsynonymous SNV	exon3	c.G334A	p.V112I	KFLAQSEEKPHVVAHFHEWLAGVGL	KFLAQSEEKPHVIAHFHEWLAGVGL	8.0	10.0	unscreened	-	4287_19:49489259-49489259 C>T_KFLAQSEEKPHVIAHFHEWLAGVGL
19:1054291-1054291 T>C	0.0	4287	COLON	-	-	-	-	ABCA7	uc002lqw.4,p.L1226P|ENST00000433129,p.L1226P|ENST00000263094,p.L1226P|ENST00000435683,p.L1088P|uc010dsb.1,p.L1088P|NM_019112,p.L1226P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dsb.1	nonsynonymous SNV	exon21	c.T3263C	p.L1088P	WALTRQQLQALLLKRFLLARRSRRG	WALTRQQLQALLPKRFLLARRSRRG	6.0	6.0	unscreened	-	4287_19:1054291-1054291 T>C_WALTRQQLQALLPKRFLLARRSRRG
17:18049218-18049218 T>A	1.0	4287	COLON	-	-	-	-	MYO15A	uc021trl.1,p.H2100Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021trl.1	nonsynonymous SNV	exon29	c.T6300A	p.H2100Q	IFKLILRFMGDPHLHGARENIFGNY	IFKLILRFMGDPQLHGARENIFGNY	5.0	7.0	-	-	4287_17:18049218-18049218 T>A_IFKLILRFMGDPQLHGARENIFGNY
2:26500015-26500015 A>C	1.0	4287	COLON	-	-	-	-	HADHB	NM_001281512,p.Q128H|NM_001281513,p.Q121H|ENST00000537713,p.Q128H|ENST00000317799,p.Q143H|NM_000183,p.Q143H|ENST00000425035,p.Q143H|uc010ykw.2,p.Q128H|uc010ykx.2,p.Q69H|uc010ykv.2,p.Q121H|uc002rgz.3,p.Q143H|ENST00000545822,p.Q121H	retained_intron, protein_coding, processed_transcript	uc010ykx.2	nonsynonymous SNV	exon3	c.A207C	p.Q69H	AHTVTMACISANQAMTTGVGLIASG	AHTVTMACISANHAMTTGVGLIASG	10.0	2.0	-	-	4287_2:26500015-26500015 A>C_AHTVTMACISANHAMTTGVGLIASG
18:47383195-47383195 T>A	0.0	4287	COLON	-	-	-	-	MYO5B	ENST00000285039,p.K1337M|NM_001080467,p.K1337M|uc002leb.2,p.K1337M	retained_intron, protein_coding, processed_transcript	uc002leb.2	nonsynonymous SNV	exon30	c.A4010T	p.K1337M	EDGELGLAYQGLKQVARLLEAQLQA	EDGELGLAYQGLMQVARLLEAQLQA	10.0	1.0	unscreened	-	4287_18:47383195-47383195 T>A_EDGELGLAYQGLMQVARLLEAQLQA
X:12828249-12828249 G>A	1.0	4287	COLON	-	-	ID=COSM1465490;OCCURENCE=1(large_intestine)	-	PRPS2	uc010nec.3,p.A108T|ENST00000461630,p.A85T	protein_coding, processed_transcript	uc010nec.3	nonsynonymous SNV	exon3	c.G322A	p.A108T	AEWKNCIIVSPDAGGAKRLLSAGAT	AEWKNCIIVSPDTGGAKRLLSAGAT	9.0	9.0	-	-	4287_X:12828249-12828249 G>A_AEWKNCIIVSPDTGGAKRLLSAGAT
16:28880415-28880415 C>T	1.0	4287	COLON	-	-	ID=COSM557500,COSM557501,COSM1649244;OCCURENCE=1(lung)	-	SH2B1	uc002drl.3,p.P377L|NM_001145812,p.P377L|uc002drm.3,p.P377L|uc002drj.3,p.P377L|uc002drk.3,p.P377L|uc002dri.3,p.P377L|ENST00000538342,p.P41L|uc010vde.2,p.P377L|NM_001145795,p.P377L|ENST00000359285,p.P377L|uc010vdc.2,p.P67L|ENST00000566176,p.P64L|NM_001145797,p.P377L|ENST00000545570,p.P67L|ENST00000337120,p.P377L|ENST00000395532,p.P377L|ENST00000322610,p.P377L|NM_001145796,p.P377L|NM_015503,p.P377L|uc010vdd.2,p.P41L	retained_intron, protein_coding, processed_transcript	uc010vde.2	nonsynonymous SNV	exon4	c.C1130T	p.P377L	KAWVSDIQECLSPGPCPATSPRPMT	KAWVSDIQECLSLGPCPATSPRPMT	6.0	2.0	unscreened	-	4287_16:28880415-28880415 C>T_KAWVSDIQECLSLGPCPATSPRPMT
1:151260841-151260841 T>G	1.0	4287	COLON	-	-	-	-	ZNF687	uc009wmp.3,p.F692V|ENST00000336715,p.F692V|uc001exq.3,p.F692V|uc009wmo.3,p.F692V|ENST00000449313,p.F692V|uc001exp.1,p.F701V|ENST00000368879,p.F692V|NM_020832,p.F692V|ENST00000324048,p.F692V	retained_intron, protein_coding, nonsense_mediated_decay	uc009wmp.3	nonsynonymous SNV	exon1	c.T2074G	p.F692V	EQCRDKAGMAAHFQQLGPPAPGATS	EQCRDKAGMAAHVQQLGPPAPGATS	6.0	5.0	unscreened	-	4287_1:151260841-151260841 T>G_EQCRDKAGMAAHVQQLGPPAPGATS
1:207679362-207679362 G>A	0.0	4287	COLON	-	-	-	-	CR1	uc001hfx.3,p.G79R|ENST00000534202,p.G79R|ENST00000400960,p.G79R|ENST00000367052,p.G79R|ENST00000367049,p.G79R|uc009xcl.1,p.G79R|uc009xcj.1,p.G79R|ENST00000367053,p.G79R|ENST00000367051,p.G79R|uc001hfy.3,p.G79R|uc009xck.1,p.G79R|uc021pij.1,p.G79R|uc010psg.1,p.G79R|NM_000651,p.G79R|NM_000573,p.G79R	retained_intron, protein_coding, processed_transcript	uc021pij.1	nonsynonymous SNV	exon2	c.G235A	p.G79R	TYLNYECRPGYSGRPFSIICLKNSV	TYLNYECRPGYSRRPFSIICLKNSV	7.0	1.0	unscreened	-	4287_1:207679362-207679362 G>A_TYLNYECRPGYSRRPFSIICLKNSV
1:11861304-11861304 C>A	1.0	4287	COLON	-	-	-	-	MTHFR	uc001atb.1,p.C153F|ENST00000376592,p.C130F|ENST00000418034,p.C130F|ENST00000376585,p.C171F|ENST00000376583,p.C171F|uc001atc.2,p.C130F|NM_005957,p.C130F|ENST00000376590,p.C130F	protein_coding	uc001atc.2	nonsynonymous SNV	exon3	c.G389T	p.C130F	NYCGLETILHMTCCRQRLEEITGHL	NYCGLETILHMTFCRQRLEEITGHL	5.0	6.0	-	-	4287_1:11861304-11861304 C>A_NYCGLETILHMTFCRQRLEEITGHL
6:121625688-121625688 T>C	1.0	4287	COLON	-	-	-	-	TBC1D32	uc003pyo.1,p.M285V|ENST00000398212,p.M285V|ENST00000275159,p.M285V|NM_152730,p.M285V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pyo.1	nonsynonymous SNV	exon7	c.A853G	p.M285V	TLSAGVDITNPNMTRLLKKVRLLNE	TLSAGVDITNPNVTRLLKKVRLLNE	6.0	1.0	unscreened	-	4287_6:121625688-121625688 T>C_TLSAGVDITNPNVTRLLKKVRLLNE
7:122019449-122019449 T>G	1.0	4287	COLON	-	-	-	-	CADPS2	uc010lkq.3,p.K1079N|uc022akr.1,p.K1120N|ENST00000334010,p.K1118N|ENST00000313070,p.K1079N|NM_017954,p.K1120N|uc003vkg.4,p.K774N|ENST00000449022,p.K1120N|NM_001167940,p.K1124N|NM_001009571,p.K1079N|ENST00000412584,p.K1079N	protein_coding, processed_transcript	uc022akr.1	nonsynonymous SNV	exon25	c.A3360C	p.K1120N	HSKIDDLIDNSVKEIISLLVSKFVS	HSKIDDLIDNSVNEIISLLVSKFVS	6.0	2.0	unscreened	-	4287_7:122019449-122019449 T>G_HSKIDDLIDNSVNEIISLLVSKFVS
19:37465339-37465339 A>G	1.0	4287	COLON	-	-	-	-	ZNF568	uc010xtn.2,p.N62D|NM_001204839,p.N62D|uc010efg.3,p.N126D|ENST00000444991,p.N126D|ENST00000455427,p.N62D|NM_001204838,p.N126D	retained_intron, protein_coding	uc010xtn.2	nonsynonymous SNV	exon6	c.A184G	p.N62D	FGRHCPEPRRGENCCASEVMAEGLK	FGRHCPEPRRGEDCCASEVMAEGLK	7.0	3.0	unscreened	-	4287_19:37465339-37465339 A>G_FGRHCPEPRRGEDCCASEVMAEGLK
15:42974506-42974506 G>A	1.0	4287	COLON	-	-	-	-	STARD9	uc010udj.2,p.R757Q|NM_020759,p.R757Q|ENST00000290607,p.R757Q	retained_intron, protein_coding, nonsense_mediated_decay	uc010udj.2	nonsynonymous SNV	exon22	c.G2270A	p.R757Q	VVHLQLLRRHTLRAAERNVRRKKVS	VVHLQLLRRHTLQAAERNVRRKKVS	6.0	9.0	-	-	4287_15:42974506-42974506 G>A_VVHLQLLRRHTLQAAERNVRRKKVS
19:37465339-37465339 A>G	1.0	4287	COLON	-	-	-	-	ZNF568	uc010eff.3,p.N126D|ENST00000427117,p.N126D	retained_intron, protein_coding	uc010eff.3	nonsynonymous SNV	exon7	c.A376G	p.N126D	FGRHCPEPRRGENCCASEVMAEMEF	FGRHCPEPRRGEDCCASEVMAEMEF	7.0	3.0	unscreened	-	4287_19:37465339-37465339 A>G_FGRHCPEPRRGEDCCASEVMAEMEF
12:58010123-58010123 C>T	1.0	4287	COLON	-	-	-	-	ARHGEF25	uc001spb.4,p.R493W|NM_001111270,p.R532W|uc009zpy.4,p.R532W|ENST00000286494,p.R493W|uc001spa.4,p.R387W|NM_182947,p.R493W|ENST00000333972,p.R532W	retained_intron, protein_coding, processed_transcript	uc009zpy.4	nonsynonymous SNV	exon15	c.C1594T	p.R532W	YQRRESQTNSLGRPRGPGVGSPGRI	YQRRESQTNSLGWPRGPGVGSPGRI	6.0	9.0	-	-	4287_12:58010123-58010123 C>T_YQRRESQTNSLGWPRGPGVGSPGRI
15:75703897-75703897 T>A	1.0	4287	COLON	-	-	-	-	SIN3A	ENST00000360439,p.K315M|ENST00000394949,p.K315M|uc002baj.3,p.K315M|uc002bai.3,p.K315M|NM_001145358,p.K315M|ENST00000394947,p.K315M|NM_015477,p.K315M|uc010uml.2,p.K315M|NM_001145357,p.K315M	retained_intron, protein_coding	uc010uml.2	nonsynonymous SNV	exon6	c.A944T	p.K315M	EFNHAINYVNKIKNRFQGQPDIYKA	EFNHAINYVNKIMNRFQGQPDIYKA	7.0	5.0	unscreened	-	4287_15:75703897-75703897 T>A_EFNHAINYVNKIMNRFQGQPDIYKA
16:28880415-28880415 C>T	1.0	4287	COLON	-	-	ID=COSM557500,COSM557501,COSM1649244;OCCURENCE=1(lung)	-	SH2B1	ENST00000561629,p.P41L	retained_intron, protein_coding, processed_transcript	ENST00000561629	nonsynonymous SNV	exon2	c.C122T	p.P41L	KAWVSDIQECLSPGENTDSLELSCL	KAWVSDIQECLSLGENTDSLELSCL	6.0	2.0	unscreened	-	4287_16:28880415-28880415 C>T_KAWVSDIQECLSLGENTDSLELSCL
2:219505483-219505483 G>A	1.0	4287	COLON	-	-	-	-	ZNF142	uc002vin.4,p.R1500W|ENST00000449707,p.R1500W|ENST00000411696,p.R1500W|uc002vim.4,p.R1337W|uc010fvt.4,p.R1337W|uc002vil.3,p.R1461W|NM_001105537,p.R1500W	protein_coding, nonsense_mediated_decay	uc010fvt.4	nonsynonymous SNV	exon10	c.C4009T	p.R1337W	ACADPSRLKYHMRIHKEERKYLCPE	ACADPSRLKYHMWIHKEERKYLCPE	5.0	9.0	-	-	4287_2:219505483-219505483 G>A_ACADPSRLKYHMWIHKEERKYLCPE
5:134914452-134914452 G>T	1.0	4287	COLON	-	-	-	-	CXCL14	uc003lay.3,p.A18D|ENST00000337225,p.A18D|NM_004887,p.A18D	protein_coding	uc003lay.3	nonsynonymous SNV	exon1	c.C53A	p.A18D	RRAPPVSMRLLAAALLLLLLALYTA	RRAPPVSMRLLADALLLLLLALYTA	4.0	4.0	-	-	4287_5:134914452-134914452 G>T_RRAPPVSMRLLADALLLLLLALYTA
2:231338088-231338088 T>G	1.0	4287	COLON	-	-	-	-	SP100	ENST00000340126,p.C493W|uc002vqt.3,p.C493W|NM_001206701,p.C493W|NM_001080391,p.C493W|ENST00000409112,p.C493W|ENST00000264052,p.C493W|uc002vqu.1,p.C493W|NM_003113,p.C493W|uc002vqs.3,p.C493W	retained_intron, protein_coding	uc002vqu.1	nonsynonymous SNV	exon16	c.T1479G	p.C493W	QEPENKKCSCVMCFPKGVPRSQEAR	QEPENKKCSCVMWFPKGVPRSQEAR	10.0	3.0	-	-	4287_2:231338088-231338088 T>G_QEPENKKCSCVMWFPKGVPRSQEAR
22:21343966-21344002 GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA>-	0.0	4287	COLON	-	-	-	1	LZTR1	uc002zto.3,p.216_217del|NM_006767,p.216_217del|uc002ztn.3,p.175_176del|uc011ahy.2,p.197_198del|ENST00000389355,p.197_198del|ENST00000215739,p.216_217del|uc010gsr.1,p.87_88del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ahy.2	nonframeshift deletion	exon6	c.589_594del	p.197_198del	TIGLQDRELTCWEEVAQSGEIPPSC	TIGLQDRELTCWVAQSGEIPPSCCN	8.0	3.0	unscreened	-	4287_22:21343966-21344002 GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA>-_TIGLQDRELTCWVAQSGEIPPSCCN
6:109258108-109258108 T>G	1.0	4287	COLON	-	-	-	-	ARMC2	ENST00000368972,p.L336R|NM_032131,p.L501R|uc011eao.2,p.L336R|ENST00000392644,p.L501R|uc003pss.4,p.L501R|NM_001286609,p.L336R	protein_coding, processed_transcript	uc011eao.2	nonsynonymous SNV	exon11	c.T1007G	p.L336R	DVCTNIARIFSKLTSYRDCCTALAS	DVCTNIARIFSKRTSYRDCCTALAS	7.0	6.0	-	-	4287_6:109258108-109258108 T>G_DVCTNIARIFSKRTSYRDCCTALAS
X:12828249-12828249 G>A	1.0	4287	COLON	-	-	ID=COSM1465490;OCCURENCE=1(large_intestine)	-	PRPS2	NM_002765,p.A172T|ENST00000380668,p.A172T|uc004cvb.3,p.A172T|uc004cva.3,p.A175T|NM_001039091,p.A175T|ENST00000398491,p.A175T	protein_coding, processed_transcript	uc004cvb.3	nonsynonymous SNV	exon4	c.G514A	p.A172T	AEWKNCIIVSPDAGGAKRVTSIADR	AEWKNCIIVSPDTGGAKRVTSIADR	9.0	9.0	-	-	4287_X:12828249-12828249 G>A_AEWKNCIIVSPDTGGAKRVTSIADR
13:58207383-58207383 G>T	0.0	4287	COLON	-	-	-	-	PCDH17	NM_001040429,p.D235Y|ENST00000377918,p.D235Y|ENST00000484979,p.D235Y|uc001vhq.1,p.D235Y|uc010aec.1,p.D235Y	protein_coding, nonsense_mediated_decay	uc010aec.1	nonsynonymous SNV	exon1	c.G703T	p.D235Y	RSATVQINVKVIDSNDNSPVFEAPS	RSATVQINVKVIYSNDNSPVFEAPS	5.0	8.0	-	-	4287_13:58207383-58207383 G>T_RSATVQINVKVIYSNDNSPVFEAPS
7:143088603-143088604 GT>-	0.0	4287	COLON	-	-	-	-	EPHA1	ENST00000275815,p.T959fs|uc003wcz.3,p.T959fs|NM_005232,p.T959fs	retained_intron, protein_coding, processed_transcript	uc003wcz.3	frameshift deletion	exon18	c.2877_2878del	p.T959fs	ELTAEDLTQMGITLPGHQKRILCSI	ELTAEDLTQMGITARAPEAHSLQYSGIQGL	7.0	5.0	unscreened	-	4287_7:143088603-143088604 GT>-_ELTAEDLTQMGITARAPEAHSLQYSGIQGL
X:140985132-140985132 G>T	0.0	4287	COLON	-	-	-	-	MAGEC3	ENST00000536088,p.D232Y|NM_138702,p.D530Y|uc010nsj.3,p.D232Y|uc004fbs.3,p.D232Y|ENST00000443323,p.D152Y|uc022cfh.1,p.D232Y|ENST00000298296,p.D530Y|ENST00000409007,p.D232Y|NM_177456,p.D232Y|ENST00000544766,p.D232Y|uc011mwp.2,p.D530Y	protein_coding, processed_transcript	uc022cfh.1	nonsynonymous SNV	exon1	c.G694T	p.D232Y	PDNHSYFFEDTLDLTYEGSLIDDQG	PDNHSYFFEDTLYLTYEGSLIDDQG	1.0	3.0	unscreened	-	4287_X:140985132-140985132 G>T_PDNHSYFFEDTLYLTYEGSLIDDQG
18:74092083-74092083 T>A	1.0	4287	COLON	-	-	-	-	ZNF516	ENST00000443185,p.R663W|NM_014643,p.R663W|uc021ulp.1,p.R663W	protein_coding, processed_transcript	uc021ulp.1	nonsynonymous SNV	exon4	c.A1987T	p.R663W	SILENSSRETSRRQEQHRFSMDLKM	SILENSSRETSRWQEQHRFSMDLKM	5.0	8.0	unscreened	-	4287_18:74092083-74092083 T>A_SILENSSRETSRWQEQHRFSMDLKM
22:38130881-38130881 C>T	0.0	4287	COLON	-	-	-	-	TRIOBP	ENST00000406386,p.T1513M|uc003atr.3,p.T1513M|uc003atu.3,p.T1341M|NM_001039141,p.T1513M	retained_intron, protein_coding, nonsense_mediated_decay	uc003atu.3	nonsynonymous SNV	exon7	c.C4022T	p.T1341M	ELPRELGKRSPLTSPPENWGGPAES	ELPRELGKRSPLMSPPENWGGPAES	9.0	9.0	-	-	4287_22:38130881-38130881 C>T_ELPRELGKRSPLMSPPENWGGPAES
19:44159707-44159707 C>T	1.0	4287	COLON	-	-	ID=COSM997676,COSM997677;OCCURENCE=1(endometrium)	-	PLAUR	uc002oxf.2,p.R164H|ENST00000602141,p.R139H|NM_001005376,p.R164H|ENST00000340093,p.R164H|ENST00000339082,p.R164H|uc002oxd.2,p.R164H|NM_001301037,p.R164H|NM_002659,p.R164H|ENST00000601723,p.R164H|ENST00000599892,p.R139H	retained_intron, protein_coding, nonsense_mediated_decay	uc002oxf.2	nonsynonymous SNV	exon5	c.G491A	p.R164H	IQEGEEGRPKDDRHLRGCGYLPGCP	IQEGEEGRPKDDHHLRGCGYLPGCP	9.0	4.0	unscreened	-	4287_19:44159707-44159707 C>T_IQEGEEGRPKDDHHLRGCGYLPGCP
X:70148334-70148334 C>T	0.0	4287	COLON	-	-	-	-	SLC7A3	ENST00000298085,p.A227T|uc004dyn.3,p.A227T|NM_032803,p.A227T|ENST00000374299,p.A227T|uc004dyo.3,p.A227T|NM_001048164,p.A227T	protein_coding	uc004dyo.3	nonsynonymous SNV	exon4	c.G679A	p.A227T	HNWKLTEEDYELAMAELNDTYSLGP	HNWKLTEEDYELTMAELNDTYSLGP	1.0	2.0	unscreened	-	4287_X:70148334-70148334 C>T_HNWKLTEEDYELTMAELNDTYSLGP
5:78281031-78281031 C>T	0.0	4287	COLON	-	-	-	-	ARSB	NM_000046,p.G14E|ENST00000264914,p.G14E|uc003kfq.3,p.G14E|NM_198709,p.G14E|ENST00000521117,p.G14E|ENST00000396151,p.G14E|ENST00000565165,p.G14E|uc003kfr.4,p.G14E	protein_coding, processed_transcript	uc003kfr.4	nonsynonymous SNV	exon2	c.G41A	p.G14E	GPRGAASLPRGPGPRRLLLPVVLPL	GPRGAASLPRGPEPRRLLLPVVLPL	6.0	3.0	unscreened	-	4287_5:78281031-78281031 C>T_GPRGAASLPRGPEPRRLLLPVVLPL
6:31498645-31498645 T>C	1.0	4287	COLON	-	-	-	-	DDX39B	uc003ntu.3,p.E394G|uc003ntr.3,p.E201G|uc003ntt.3,p.E394G|ENST00000458640,p.E394G|uc011dnn.2,p.E316G|ENST00000417556,p.E409G|ENST00000415382,p.E316G|ENST00000396172,p.E394G|NM_080598,p.E394G|uc003ntv.3,p.E394G|NM_004640,p.E394G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dnn.2	nonsynonymous SNV	exon8	c.A947G	p.E316G	GTKGLAITFVSDENDAKILNDVQDR	GTKGLAITFVSDGNDAKILNDVQDR	10.0	1.0	-	-	4287_6:31498645-31498645 T>C_GTKGLAITFVSDGNDAKILNDVQDR
19:12822110-12822110 T>C	1.0	4287	COLON	-	-	-	-	TNPO2	uc002mur.3,p.R373G|ENST00000450764,p.R373G|NM_013433,p.R373G|ENST00000588216,p.R373G|NM_001136196,p.R373G|ENST00000441499,p.R373G|ENST00000592287,p.R373G|uc002mup.3,p.R465G|ENST00000356861,p.R373G|ENST00000585886,p.R373G|NM_001136195,p.R373G|uc002muo.3,p.R373G|ENST00000425528,p.R373G|uc002muq.3,p.R373G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay	uc002mur.3	nonsynonymous SNV	exon12	c.A1117G	p.R373G	DDDDDALSDWNLRKCSAAALDVLAN	DDDDDALSDWNLGKCSAAALDVLAN	7.0	2.0	unscreened	-	4287_19:12822110-12822110 T>C_DDDDDALSDWNLGKCSAAALDVLAN
7:66406970-66406970 T>G	1.0	4287	COLON	-	-	-	-	TMEM248	ENST00000424964,p.F40V|ENST00000413593,p.F40V|ENST00000341567,p.F40V|uc003tvk.3,p.F40V|ENST00000433271,p.F40V|ENST00000418375,p.F40V|ENST00000607045,p.F40V|NM_017994,p.F40V	retained_intron, protein_coding, nonsense_mediated_decay	uc003tvk.3	nonsynonymous SNV	exon2	c.T118G	p.F40V	SAMAIAFLTLGYFFKIKEIKSPEMA	SAMAIAFLTLGYVFKIKEIKSPEMA	9.0	5.0	-	-	4287_7:66406970-66406970 T>G_SAMAIAFLTLGYVFKIKEIKSPEMA
1:32086678-32086678 C>T	0.0	4287	COLON	-	-	-	-	HCRTR1	ENST00000373706,p.R205C|uc001btd.2,p.R205C|ENST00000403528,p.R205C|NM_001525,p.R205C|uc001btc.4,p.R119C|uc010ogl.2,p.R205C|uc009vtx.2,p.R205C|ENST00000373705,p.R205C	protein_coding, processed_transcript	uc010ogl.2	nonsynonymous SNV	exon3	c.C613T	p.R205C	ANRTRLFSVCDERWADDLYPKIYHS	ANRTRLFSVCDECWADDLYPKIYHS	1.0	10.0	-	-	4287_1:32086678-32086678 C>T_ANRTRLFSVCDECWADDLYPKIYHS
3:93605235-93605235 G>T	1.0	4287	COLON	-	-	-	-	PROS1	ENST00000394236,p.T423N|ENST00000407433,p.T292N|uc003drb.4,p.T423N|uc010hoo.3,p.T292N|NM_000313,p.T423N|uc003dqz.4,p.T292N	retained_intron, protein_coding	uc010hoo.3	nonsynonymous SNV	exon10	c.C875A	p.T292N	GPLFKPENGLLETKVYFAGFPRKVE	GPLFKPENGLLENKVYFAGFPRKVE	7.0	2.0	unscreened	-	4287_3:93605235-93605235 G>T_GPLFKPENGLLENKVYFAGFPRKVE
17:2265444-2265444 G>T	1.0	4287	COLON	-	-	-	-	SGSM2	uc002fun.4,p.G113V|uc010vqw.2,p.G113V|ENST00000426855,p.G113V|uc002fum.4,p.G113V|NM_014853,p.G113V|ENST00000268989,p.G113V|ENST00000574563,p.G113V|NM_001098509,p.G113V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vqw.2	nonsynonymous SNV	exon4	c.G338T	p.G113V	PSGVSQEALRRQGSASGKAPALSPQ	PSGVSQEALRRQVSASGKAPALSPQ	6.0	10.0	-	-	4287_17:2265444-2265444 G>T_PSGVSQEALRRQVSASGKAPALSPQ
3:184290452-184290452 ->G	0.0	4287	COLON	-	-	-	-	EPHB3	uc003foz.3,p.D115fs|ENST00000330394,p.D115fs|NM_004443,p.D115fs	retained_intron, protein_coding	uc003foz.3	frameshift insertion	exon3	c.344_345insG	p.D115fs	QRVYVELKFTVRDCNSIPNIPGSCK	QRVYVELKFTVRELQQHPQHPRLLQGDLQPLLLRG	10.0	5.0	unscreened	-	4287_3:184290452-184290452 ->G_QRVYVELKFTVRELQQHPQHPRLLQGDLQPLLLRG
12:57113992-57113992 A>G	1.0	4287	COLON	-	-	-	2	NACA	NM_001113203,p.L441P|uc001sma.2,p.L441P|ENST00000454682,p.L441P|ENST00000550952,p.L441P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sma.2	nonsynonymous SNV	exon3	c.T1322C	p.L441P	AQMPVSSVGTTPLVVTNPCTIAAAP	AQMPVSSVGTTPPVVTNPCTIAAAP	10.0	6.0	unscreened	-	4287_12:57113992-57113992 A>G_AQMPVSSVGTTPPVVTNPCTIAAAP
6:147057727-147057727 G>T	0.0	4287	COLON	-	-	-	-	ADGB	uc010khx.3,p.R963I|uc003qlp.3,p.R215I|ENST00000397944,p.R963I|ENST00000367493,p.R382I|ENST00000367490,p.R25I|NM_024694,p.R963I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010khx.3	nonsynonymous SNV	exon23	c.G2888T	p.R963I	EMNLEQYAVSLLRLMFKSKCKSLES	EMNLEQYAVSLLILMFKSKCKSLES	4.0	8.0	-	-	4287_6:147057727-147057727 G>T_EMNLEQYAVSLLILMFKSKCKSLES
3:38753789-38753789 A>T	0.0	4287	COLON	-	-	-	-	SCN10A	NM_001293306,p.F1317I|ENST00000449082,p.F1318I|NM_006514,p.F1318I|NM_001293307,p.F1220I|uc003ciq.3,p.F1318I	protein_coding	uc003ciq.3	nonsynonymous SNV	exon22	c.T3952A	p.F1318I	KFWRCINYTDGEFSLVPLSIVNNKS	KFWRCINYTDGEISLVPLSIVNNKS	1.0	1.0	unscreened	-	4287_3:38753789-38753789 A>T_KFWRCINYTDGEISLVPLSIVNNKS
7:129350404-129350404 T>G	0.0	4287	COLON	-	-	-	-	NRF1	ENST00000393230,p.L319R|uc003voz.3,p.L319R|ENST00000393232,p.L319R|ENST00000311967,p.L319R|uc011kpa.2,p.L158R|NM_001040110,p.L319R|ENST00000539636,p.L158R|uc003vpa.3,p.L319R|NM_001293164,p.L158R|ENST00000223190,p.L319R|NM_005011,p.L319R|ENST00000393231,p.L319R|uc003vpb.3,p.L319R|NM_001293163,p.L319R	protein_coding, processed_transcript	uc011kpa.2	nonsynonymous SNV	exon6	c.T473G	p.L158R	VQTFSNPDGTVSLIQVGTGATVATL	VQTFSNPDGTVSRIQVGTGATVATL	7.0	2.0	unscreened	-	4287_7:129350404-129350404 T>G_VQTFSNPDGTVSRIQVGTGATVATL
1:171535770-171535770 C>A	1.0	4287	COLON	-	-	-	-	PRRC2C	ENST00000426496,p.P2114T|NM_015172,p.P2114T|ENST00000392078,p.P2116T|ENST00000338920,p.P2114T|uc010pmg.2,p.P2114T|uc010pmh.2,p.P1091T|ENST00000367742,p.P2116T	retained_intron, protein_coding, processed_transcript	uc010pmh.2	nonsynonymous SNV	exon7	c.C3271A	p.P1091T	PDLSPVENKEHKPGPIGKERSLKNR	PDLSPVENKEHKTGPIGKERSLKNR	10.0	2.0	unscreened	-	4287_1:171535770-171535770 C>A_PDLSPVENKEHKTGPIGKERSLKNR
X:106083366-106083366 G>C	0.0	4287	COLON	-	-	-	-	TBC1D8B	ENST00000310452,p.R481P|uc004emn.3,p.R481P|NM_198881,p.R481P|uc004emo.3,p.R481P|ENST00000276175,p.R475P|NM_017752,p.R481P|ENST00000357242,p.R481P	retained_intron, protein_coding	uc004emo.3	nonsynonymous SNV	exon9	c.G1442C	p.R481P	GRGVSMFRTKKTRDLVVRGIPETLR	GRGVSMFRTKKTPDLVVRGIPETLR	7.0	3.0	unscreened	-	4287_X:106083366-106083366 G>C_GRGVSMFRTKKTPDLVVRGIPETLR
19:1226602-1226602 G>A	1.0	4287	COLON	-	-	-	1	STK11	ENST00000326873,p.A420T|NM_000455,p.A420T|uc002lrl.1,p.A420T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lrl.1	nonsynonymous SNV	exon9	c.G1258A	p.A420T	GRAPNPARKACSASSKIRRLSACKQ	GRAPNPARKACSTSSKIRRLSACKQ	8.0	10.0	-	-	4287_19:1226602-1226602 G>A_GRAPNPARKACSTSSKIRRLSACKQ
2:26500015-26500015 A>C	1.0	4287	COLON	-	-	-	-	HADHB	ENST00000405867,p.Q143H	retained_intron, protein_coding, processed_transcript	ENST00000405867	nonsynonymous SNV	exon7	c.A429C	p.Q143H	AHTVTMACISANQAMTTGKDTVTKD	AHTVTMACISANHAMTTGKDTVTKD	10.0	2.0	unscreened	-	4287_2:26500015-26500015 A>C_AHTVTMACISANHAMTTGKDTVTKD
11:55890204-55890204 C>T	0.0	4287	COLON	-	-	-	-	OR8H3	ENST00000313472,p.A119V|NM_001005201,p.A119V|uc001nii.1,p.A119V	protein_coding	uc001nii.1	nonsynonymous SNV	exon1	c.C356T	p.A119V	LGTAECYLLSSMAYDRYAAICSPLH	LGTAECYLLSSMVYDRYAAICSPLH	1.0	8.0	-	-	4287_11:55890204-55890204 C>T_LGTAECYLLSSMVYDRYAAICSPLH
7:1197332-1197332 A>C	1.0	4287	COLON	-	-	-	-	ZFAND2A	NM_182491,p.F37C|uc003skc.3,p.F37C|ENST00000401903,p.F37C|ENST00000316495,p.F37C|uc003skd.4,p.F37C|ENST00000397083,p.F37C	retained_intron, protein_coding, processed_transcript	uc003skd.4	nonsynonymous SNV	exon3	c.T110G	p.F37C	CDACKQDFCKDHFPYAAHKCPFAFQ	CDACKQDFCKDHCPYAAHKCPFAFQ	9.0	9.0	-	-	4287_7:1197332-1197332 A>C_CDACKQDFCKDHCPYAAHKCPFAFQ
16:84456257-84456257 A>T	1.0	4287	COLON	-	-	-	-	ATP2C2	NM_001286527,p.E266V|uc002fhy.3,p.E283V|ENST00000262429,p.E266V|NM_001291454,p.E115V|ENST00000416219,p.E266V|uc002fhx.3,p.E266V|uc002fhz.3,p.E115V|uc010chj.3,p.E266V|NM_014861,p.E266V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc010chj.3	nonsynonymous SNV	exon9	c.A797T	p.E266V	YGRGQGVVIGTGESSQFGEVFKMMQ	YGRGQGVVIGTGVSSQFGEVFKMMQ	9.0	4.0	unscreened	-	4287_16:84456257-84456257 A>T_YGRGQGVVIGTGVSSQFGEVFKMMQ
17:7691509-7691509 G>A	0.0	4287	COLON	-	-	-	-	DNAH2	ENST00000389173,p.G2283S|ENST00000572933,p.G2283S|NM_020877,p.G2283S|uc002giu.1,p.G2283S	retained_intron, protein_coding, nonsense_mediated_decay	uc002giu.1	nonsynonymous SNV	exon43	c.G6847A	p.G2283S	NCKELVPLPEYSGITSLCKLYSALA	NCKELVPLPEYSSITSLCKLYSALA	4.0	7.0	unscreened	-	4287_17:7691509-7691509 G>A_NCKELVPLPEYSSITSLCKLYSALA
X:73641647-73641647 C>A	0.0	4287	COLON	-	-	-	-	SLC16A2	ENST00000587091,p.P59T|NM_006517,p.P59T|uc031tjy.1,p.P59T|ENST00000276033,p.P133T	protein_coding	uc031tjy.1	nonsynonymous SNV	exon1	c.C175A	p.P59T	PPPEPQPEPQPLPDPAPLPELEFES	PPPEPQPEPQPLTDPAPLPELEFES	4.0	2.0	unscreened	-	4287_X:73641647-73641647 C>A_PPPEPQPEPQPLTDPAPLPELEFES
9:84230926-84230926 T>A	1.0	4287	COLON	-	-	-	-	TLE1	NM_005077,p.T297S|uc011lss.1,p.T223S|uc004aly.3,p.T297S|uc011lsr.2,p.T297S|uc004ama.1,p.T297S|ENST00000376499,p.T297S|uc004alz.3,p.T307S	protein_coding, processed_transcript	uc011lss.1	nonsynonymous SNV	exon9	c.A667T	p.T223S	SSPASTASSASSTSLKSKEMSLHEK	SSPASTASSASSSSLKSKEMSLHEK	5.0	2.0	-	-	4287_9:84230926-84230926 T>A_SSPASTASSASSSSLKSKEMSLHEK
7:18875201-18875201 C>A	0.0	4287	COLON	-	-	-	-	HDAC9	uc011jyd.2,p.P857T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011jyd.2	nonsynonymous SNV	exon19	c.C2569A	p.P857T	YDEGNFFPGSGAPNEVRFISLEPHF	YDEGNFFPGSGATNEVRFISLEPHF	6.0	10.0	-	-	4287_7:18875201-18875201 C>A_YDEGNFFPGSGATNEVRFISLEPHF
17:5087436-5087436 T>G	1.0	4287	COLON	-	-	-	-	ZNF594	ENST00000399604,p.N39T|ENST00000576772,p.N39T|NM_032530,p.N39T|uc010cla.1,p.N39T|ENST00000575779,p.N39T|uc021tol.1,p.N39T	protein_coding	uc021tol.1	nonsynonymous SNV	exon1	c.A116C	p.N39T	QITQECELVETSNSEDRLLKHWVSP	QITQECELVETSTSEDRLLKHWVSP	6.0	2.0	unscreened	-	4287_17:5087436-5087436 T>G_QITQECELVETSTSEDRLLKHWVSP
12:110352377-110352377 A>T	1.0	4287	COLON	-	-	-	-	TCHP	NM_032300,p.E422V|NM_001143852,p.E422V|ENST00000544838,p.E422V|uc001tpn.3,p.E422V|uc001tpp.3,p.E422V|ENST00000405876,p.E422V|ENST00000312777,p.E422V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001tpp.3	nonsynonymous SNV	exon11	c.A1265T	p.E422V	RNLEEVRELARREKEESEKLKSARK	RNLEEVRELARRVKEESEKLKSARK	6.0	4.0	unscreened	-	4287_12:110352377-110352377 A>T_RNLEEVRELARRVKEESEKLKSARK
12:25398281-25398281 C>T	1.0	4287	COLON	-	-	ID=COSM1140132,COSM532;OCCURENCE=103(haematopoietic_and_lymphoid_tissue),2(pleura),5(cervix),17(gastrointestinal_tract_(site_indeterminate)),2(peritoneum),118(lung),23(thyroid),1(bone),4(upper_aerodigestive_tract),3(oesophagus),1(central_nervous_system),43(stomach),29(pancreas),3(liver),5(urinary_tract),1(genital_tract),3337(large_intestine),21(biliary_tract),23(prostate),17(breast),3(skin),19(small_intestine),50(endometrium),35(ovary),36(soft_tissue)	1	KRAS	ENST00000557334,p.G13D|uc001rgp.1,p.G13D|ENST00000311936,p.G13D|NM_004985,p.G13D|uc001rgq.1,p.G13D|NM_033360,p.G13D|ENST00000556131,p.G13D|ENST00000256078,p.G13D	protein_coding	uc001rgq.1	nonsynonymous SNV	exon2	c.G38A	p.G13D	MTEYKLVVVGAGGVGKSALTIQLIQ	MTEYKLVVVGAGDVGKSALTIQLIQ	7.0	10.0	-	-	4287_12:25398281-25398281 C>T_MTEYKLVVVGAGDVGKSALTIQLIQ
7:44147611-44147612 CC>-	0.0	4287	COLON	-	-	-	-	AEBP1	uc003tkb.4,p.P290fs|NM_001129,p.P290fs|ENST00000223357,p.P290fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc003tkb.4	frameshift deletion	exon6	c.868_869del	p.P290fs	APAPAPEERIEPPVKPLLPPLPPDY	APAPAPEERIEPCEASAAPAAP	9.0	1.0	unscreened	-	4287_7:44147611-44147612 CC>-_APAPAPEERIEPCEASAAPAAP
15:56388451-56388451 G>A	0.0	4287	COLON	-	-	-	-	RFX7	ENST00000317318,p.S492F|ENST00000559447,p.S395F|ENST00000423270,p.S492F|uc010bfn.3,p.S492F|uc002adn.1,p.S306F|ENST00000422057,p.S395F|ENST00000559847,p.S395F|NM_022841,p.S492F	protein_coding, nonsense_mediated_decay	uc010bfn.3	nonsynonymous SNV	exon9	c.C1475T	p.S492F	LTPSNSNTPLKHSASVSSATGTTEE	LTPSNSNTPLKHFASVSSATGTTEE	6.0	7.0	unscreened	-	4287_15:56388451-56388451 G>A_LTPSNSNTPLKHFASVSSATGTTEE
11:64847019-64847019 G>A	1.0	4287	COLON	-	-	-	-	CDCA5	ENST00000275517,p.R162C|NM_080668,p.R162C|ENST00000404147,p.R162C|uc001ocp.2,p.R162C	retained_intron, protein_coding, nonsense_mediated_decay	uc001ocp.2	nonsynonymous SNV	exon5	c.C484T	p.R162C	ETLGSASTSTPGRRSCFGFEGLLGA	ETLGSASTSTPGCRSCFGFEGLLGA	6.0	8.0	-	-	4287_11:64847019-64847019 G>A_ETLGSASTSTPGCRSCFGFEGLLGA
X:100275513-100275513 C>A	0.0	4287	COLON	-	-	-	-	TRMT2B	ENST00000338687,p.Q332H|ENST00000372939,p.Q332H|ENST00000372931,p.Q377H|ENST00000490509,p.Q377H|ENST00000372936,p.Q377H|uc004egr.3,p.Q377H|uc004egs.3,p.Q377H|uc004egq.3,p.Q377H|NM_024917,p.Q377H|NM_001167972,p.Q377H|NM_001167970,p.Q377H|ENST00000545398,p.Q377H|uc004egu.3,p.Q258H|uc004egt.3,p.Q377H|ENST00000372935,p.Q377H|uc004egv.3,p.Q332H|NM_001167971,p.Q332H	protein_coding, processed_transcript, nonsense_mediated_decay	uc004egv.3	nonsynonymous SNV	exon11	c.G996T	p.Q332H	HTSRVLGIELLEQAVEDARWTAAFN	HTSRVLGIELLEHAVEDARWTAAFN	8.0	7.0	unscreened	-	4287_X:100275513-100275513 C>A_HTSRVLGIELLEHAVEDARWTAAFN
4:1208228-1208228 G>A	1.0	4287	COLON	-	-	ID=COSM1426534;OCCURENCE=1(large_intestine)	-	CTBP1	uc003gcv.1,p.R266W|NM_001328,p.R266W|ENST00000290921,p.R266W|ENST00000382952,p.R255W|uc003gcw.3,p.R266W|NM_001012614,p.R255W|uc003gcu.1,p.R255W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gcw.3	nonsynonymous SNV	exon6	c.C796T	p.R266W	QMRQGAFLVNTARGGLVDEKALAQA	QMRQGAFLVNTAWGGLVDEKALAQA	9.0	9.0	-	-	4287_4:1208228-1208228 G>A_QMRQGAFLVNTAWGGLVDEKALAQA
6:39159180-39159180 G>A	1.0	4287	COLON	-	-	-	-	KCNK5	ENST00000359534,p.P329L|uc003oon.3,p.P329L|NM_003740,p.P329L	protein_coding	uc003oon.3	nonsynonymous SNV	exon5	c.C986T	p.P329L	GGGETGPGPGLGPQGGGLPALPPSL	GGGETGPGPGLGLQGGGLPALPPSL	5.0	10.0	unscreened	-	4287_6:39159180-39159180 G>A_GGGETGPGPGLGLQGGGLPALPPSL
3:48697646-48697646 C>A	1.0	4287	COLON	-	-	-	-	CELSR3	NM_001407,p.G808W|ENST00000164024,p.G808W|uc003cul.3,p.G808W|ENST00000544264,p.G808W|uc003cuf.1,p.G878W	retained_intron, protein_coding	uc003cul.3	nonsynonymous SNV	exon1	c.G2422T	p.G808W	GNTRNRFAISTQGGVGLVTLALPLD	GNTRNRFAISTQWGVGLVTLALPLD	3.0	10.0	-	-	4287_3:48697646-48697646 C>A_GNTRNRFAISTQWGVGLVTLALPLD
1:22970607-22970607 G>T	1.0	4287	COLON	-	-	-	-	C1QC	uc001bgc.4,p.G31C|NM_172369,p.G31C|uc001bga.4,p.G31C|NM_001114101,p.G31C|ENST00000374637,p.G31C|ENST00000374640,p.G31C|ENST00000374639,p.G31C	protein_coding	uc001bgc.4	nonsynonymous SNV	exon2	c.G91T	p.G31C	LLLLPLRGQANTGCYGIPGMPGLPG	LLLLPLRGQANTCCYGIPGMPGLPG	8.0	8.0	-	-	4287_1:22970607-22970607 G>T_LLLLPLRGQANTCCYGIPGMPGLPG
6:73843311-73843311 G>A	0.0	4287	COLON	-	-	-	-	KCNQ5	NM_001160132,p.R482H|uc011dyi.2,p.R482H|NM_001160130,p.R463H|ENST00000355635,p.R473H|ENST00000403813,p.R463H|ENST00000370398,p.R472H|uc011dyh.2,p.R491H|ENST00000355194,p.R472H|ENST00000342056,p.R491H|NM_019842,p.R472H|uc010kat.3,p.R463H|uc011dyk.2,p.R222H|ENST00000402622,p.R482H|NM_001160133,p.R491H|uc003pgk.3,p.R472H	protein_coding	uc011dyk.2	nonsynonymous SNV	exon8	c.G665A	p.R222H	KVQKSWSFNDRTRFRPSLRLKSSQP	KVQKSWSFNDRTHFRPSLRLKSSQP	3.0	10.0	-	-	4287_6:73843311-73843311 G>A_KVQKSWSFNDRTHFRPSLRLKSSQP
13:36686031-36686031 C>T	0.0	4287	COLON	-	-	ID=COSM1366636,COSM1366635;OCCURENCE=1(large_intestine)	-	DCLK1	uc001uvf.3,p.R233H|NM_004734,p.R233H|ENST00000255448,p.R233H|ENST00000360631,p.R233H|ENST00000379892,p.R233H	protein_coding, processed_transcript	uc001uvf.3	nonsynonymous SNV	exon3	c.G698A	p.R233H	TDAIKLDSGVVKRLYTLDGKQVMCL	TDAIKLDSGVVKHLYTLDGKQVMCL	4.0	8.0	-	-	4287_13:36686031-36686031 C>T_TDAIKLDSGVVKHLYTLDGKQVMCL
X:40456837-40456837 G>A	0.0	4287	COLON	0.0012	-	-	-	ATP6AP2	ENST00000544975,p.R76H|ENST00000436783,p.R152H|ENST00000378438,p.R152H|uc004det.3,p.R152H|ENST00000535539,p.R120H|NM_005765,p.R152H|uc011mkl.2,p.R76H|uc011mkm.2,p.R120H|uc004deu.1,p.R17H	protein_coding, processed_transcript	uc011mkm.2	nonsynonymous SNV	exon4	c.G359A	p.R120H	ANSVFEDLSVTLRQLRNRLFQENSV	ANSVFEDLSVTLHQLRNRLFQENSV	10.0	2.0	unscreened	-	4287_X:40456837-40456837 G>A_ANSVFEDLSVTLHQLRNRLFQENSV
X:70149561-70149561 G>A	0.0	4287	COLON	-	-	-	-	SLC7A3	NM_001048164,p.S96L|uc004dyn.3,p.S96L|ENST00000374299,p.S96L|ENST00000298085,p.S96L|uc004dyo.3,p.S96L|NM_032803,p.S96L	protein_coding	uc004dyo.3	nonsynonymous SNV	exon2	c.C287T	p.S96L	YAEFGARVPRSGSAYLYSYVTVGEL	YAEFGARVPRSGLAYLYSYVTVGEL	1.0	10.0	-	-	4287_X:70149561-70149561 G>A_YAEFGARVPRSGLAYLYSYVTVGEL
12:122257646-122257646 A>T	1.0	4287	COLON	-	-	-	-	SETD1B	uc021rfg.1,p.E1252V|uc001ubi.3,p.E1209V|ENST00000604567,p.E1252V|NM_015048,p.E1209V|ENST00000542440,p.E1209V|ENST00000267197,p.E1209V	protein_coding	uc021rfg.1	nonsynonymous SNV	exon10	c.A3755T	p.E1252V	AVAPEERPSMLDEPPLPVGVEEPAD	AVAPEERPSMLDVPPLPVGVEEPAD	5.0	5.0	unscreened	-	4287_12:122257646-122257646 A>T_AVAPEERPSMLDVPPLPVGVEEPAD
7:138529209-138529209 C>G	0.0	4287	COLON	-	-	-	2	KIAA1549	NM_001164665,p.G1769R|ENST00000440172,p.G1769R|uc011kqj.2,p.G1769R|uc011kql.2,p.G1769R|uc011kqk.2,p.G553R|ENST00000242365,p.G1719R|NM_020910,p.G1769R|ENST00000422774,p.G1769R|uc011kqi.2,p.G553R	protein_coding	uc011kql.2	nonsynonymous SNV	exon18	c.G5305C	p.G1769R	TPPTGPLPRPGFGPGLLQSTELVPP	TPPTGPLPRPGFRPGLLQSTELVPP	5.0	1.0	unscreened	-	4287_7:138529209-138529209 C>G_TPPTGPLPRPGFRPGLLQSTELVPP
11:64564461-64564461 T>A	1.0	4287	COLON	-	-	-	-	MAP4K2	uc001obh.3,p.K467M|ENST00000377350,p.K459M|uc001obi.3,p.K459M|NM_004579,p.K467M|ENST00000294066,p.K467M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001obi.3	nonsynonymous SNV	exon20	c.A1376T	p.K459M	ERSSCHGLPPTPKVHMGACFSKVFN	ERSSCHGLPPTPMVHMGACFSKVFN	6.0	3.0	unscreened	-	4287_11:64564461-64564461 T>A_ERSSCHGLPPTPMVHMGACFSKVFN
9:131256859-131256859 C>T	1.0	4287	COLON	-	-	ID=COSM218983,COSM1159081,COSM1159080;OCCURENCE=2(pancreas)	-	ODF2	NM_153436,p.A608V|uc004bvd.4,p.A608V|ENST00000448249,p.A527V|ENST00000372791,p.A589V|NM_153435,p.A672V|uc011mbd.2,p.A608V|ENST00000372796,p.A608V|uc004bvc.3,p.A672V|uc011mbc.2,p.A527V|uc004bva.3,p.A652V|ENST00000351030,p.A603V|NM_153432,p.A652V|ENST00000303890,p.A584V|NM_153433,p.A608V|uc004bvb.3,p.A584V|NM_001242353,p.A608V|NM_001242352,p.A603V|NM_002540,p.A584V|NM_153437,p.A589V|ENST00000393533,p.A608V|ENST00000444119,p.A584V|ENST00000434106,p.A608V|ENST00000483070,p.A28V|ENST00000372814,p.A652V|uc004bve.3,p.A589V|uc011maz.2,p.A608V|NM_153440,p.A589V|NM_001242354,p.A527V|uc011mbe.2,p.A603V|ENST00000372807,p.A603V|uc011mbf.2,p.A589V|ENST00000546203,p.A589V	protein_coding, processed_transcript, nonsense_mediated_decay	uc011mbf.2	nonsynonymous SNV	exon16	c.C1766T	p.A589V	LQQLPDILKITEAKLAECQDQLQGY	LQQLPDILKITEVKLAECQDQLQGY	8.0	9.0	-	-	4287_9:131256859-131256859 C>T_LQQLPDILKITEVKLAECQDQLQGY
13:103053977-103053979 ATA>-	0.0	4287	COLON	-	-	-	-	FGF14	NM_175929,p.17_18del|uc001vpf.2,p.17_18del|ENST00000376131,p.17_18del	protein_coding, processed_transcript	uc001vpf.2	nonframeshift deletion	exon1	c.50_52del	p.17_18del	VPLFRRTDFKLLLCNHKDLFFLRVS	VPLFRRTDFKLLCNHKDLFFLRVSK	3.0	1.0	unscreened	-	4287_13:103053977-103053979 ATA>-_VPLFRRTDFKLLCNHKDLFFLRVSK
1:198665992-198665992 A>T	0.0	4287	COLON	-	-	-	1	PTPRC	NM_002838,p.Q84H|uc021pgy.2,p.Q84H|ENST00000418674,p.Q84H|ENST00000367376,p.Q82H|uc001gur.2,p.Q84H|ENST00000529828,p.Q84H|uc001guu.1,p.Q125H|ENST00000352140,p.Q82H|ENST00000442510,p.Q84H	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc021pgy.2	nonsynonymous SNV	exon4	c.A252T	p.Q84H	TTTSLSPDNTSTQVSPDSLDNASAF	TTTSLSPDNTSTHVSPDSLDNASAF	10.0	7.0	unscreened	-	4287_1:198665992-198665992 A>T_TTTSLSPDNTSTHVSPDSLDNASAF
6:97246395-97246395 G>A	0.0	4287	COLON	-	-	ID=COSM1208730;OCCURENCE=1(large_intestine),1(breast)	-	GPR63	uc003pou.3,p.R405C|uc010kcl.3,p.R405C|NM_001143957,p.R405C|uc021zcy.1,p.R405C|ENST00000417980,p.R405C|ENST00000229955,p.R405C|NM_030784,p.R405C	protein_coding	uc021zcy.1	nonsynonymous SNV	exon1	c.C1213T	p.R405C	LPQLPGHTKRRIRPSAVYVCGEHRT	LPQLPGHTKRRICPSAVYVCGEHRT	3.0	9.0	-	-	4287_6:97246395-97246395 G>A_LPQLPGHTKRRICPSAVYVCGEHRT
19:3282472-3282472 G>A	0.0	4287	COLON	-	-	-	-	CELF5	uc002lxm.3,p.A339T|ENST00000541430,p.A314T|NM_001172673,p.A314T|NM_021938,p.A339T|uc002lxl.2,p.A339T|ENST00000292672,p.A339T|ENST00000588350,p.A200T|ENST00000334293,p.A225T|uc010dtj.2,p.A314T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dtj.2	nonsynonymous SNV	exon8	c.G940A	p.A314T	FPGGHPALETVYANGLVPYPAQSPT	FPGGHPALETVYTNGLVPYPAQSPT	3.0	1.0	unscreened	-	4287_19:3282472-3282472 G>A_FPGGHPALETVYTNGLVPYPAQSPT
19:11493888-11493888 C>A	1.0	4287	COLON	-	-	-	-	EPOR	NM_000121,p.G46W|ENST00000592375,p.G46W|uc002mrj.2,p.G46W|ENST00000586890,p.G46W|ENST00000222139,p.G46W|ENST00000588859,p.G46W	retained_intron, protein_coding, nonsense_mediated_decay	uc002mrj.2	nonsynonymous SNV	exon2	c.G136T	p.G46W	KFESKAALLAARGPEELLCFTERLE	KFESKAALLAARWPEELLCFTERLE	5.0	10.0	-	-	4287_19:11493888-11493888 C>A_KFESKAALLAARWPEELLCFTERLE
4:109774059-109774059 G>A	0.0	4287	COLON	-	-	-	-	COL25A1	NM_198721,p.T448M|uc003hzg.4,p.T448M|uc021xqp.2,p.T448M|ENST00000494183,p.T376M|ENST00000399126,p.T448M|uc003hze.2,p.T448M|NM_032518,p.T448M|ENST00000399132,p.T448M|uc021xqo.1,p.T448M	retained_intron, protein_coding, nonsense_mediated_decay	uc021xqp.2	nonsynonymous SNV	exon24	c.C1343T	p.T448M	HEALQRITTLTVTGPPGPPGPQGLQ	HEALQRITTLTVMGPPGPPGPQGLQ	2.0	9.0	-	-	4287_4:109774059-109774059 G>A_HEALQRITTLTVMGPPGPPGPQGLQ
7:2963941-2963943 GGA>-	0.0	4287	COLON	-	-	ID=COSM1724481;OCCURENCE=1(NS)	1	CARD11	NM_032415,p.622_622del|ENST00000396946,p.622_622del|uc003smv.3,p.622_622del	retained_intron, protein_coding	uc003smv.3	nonframeshift deletion	exon15	c.1864_1866del	p.622_622del	SFGPSSIHSSSSSHQSEGLDAYDLE	SFGPSSIHSSSSHQSEGLDAYDLEQ	5.0	9.0	unscreened	-	4287_7:2963941-2963943 GGA>-_SFGPSSIHSSSSHQSEGLDAYDLEQ
5:884114-884114 A>G	1.0	4287	COLON	-	-	-	-	BRD9	ENST00000483173,p.L249P|ENST00000435709,p.L186P|ENST00000467963,p.L302P|ENST00000489093,p.L206P|NM_023924,p.L302P|uc003jbo.3,p.L206P|ENST00000388890,p.L186P|ENST00000323510,p.L206P|uc003jbl.3,p.L186P|uc011cmb.2,p.L249P|uc003jbq.3,p.L302P|NM_001009877,p.L249P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cmb.2	nonsynonymous SNV	exon8	c.T746C	p.L249P	LTDSTAEEHVLALVEHAADEARDRI	LTDSTAEEHVLAPVEHAADEARDRI	8.0	6.0	unscreened	-	4287_5:884114-884114 A>G_LTDSTAEEHVLAPVEHAADEARDRI
19:11493888-11493888 C>A	1.0	4287	COLON	-	-	-	-	EPOR	ENST00000591958,p.G81W	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000591958	nonsynonymous SNV	exon3	c.G241T	p.G81W	VTAGDTALLAARGPEELLCFTERLE	VTAGDTALLAARWPEELLCFTERLE	5.0	10.0	-	-	4287_19:11493888-11493888 C>A_VTAGDTALLAARWPEELLCFTERLE
12:54403099-54403099 T>C	0.0	4287	COLON	-	-	-	-	HOXC8	NM_022658,p.S11P|uc001ser.3,p.S11P|ENST00000040584,p.S11P	protein_coding	uc001ser.3	nonsynonymous SNV	exon1	c.T31C	p.S11P	MSSYFVNPLFSKYKAGESLEPAY	MSSYFVNPLFPKYKAGESLEPAY	1.0	7.0	unscreened	-	4287_12:54403099-54403099 T>C_MSSYFVNPLFPKYKAGESLEPAY
20:62227014-62227014 T>C	0.0	4287	COLON	-	-	-	-	GMEB2	ENST00000266068,p.S190G|uc002yfq.1,p.S190G|NM_012384,p.S190G|ENST00000370077,p.S190G|ENST00000370069,p.S139G|uc002yfo.1,p.S112G|uc002yfp.1,p.S190G	protein_coding	uc002yfq.1	nonsynonymous SNV	exon6	c.A568G	p.S190G	TKIDLSGARVSLSSPTSAEYIPLTP	TKIDLSGARVSLGSPTSAEYIPLTP	5.0	1.0	unscreened	-	4287_20:62227014-62227014 T>C_TKIDLSGARVSLGSPTSAEYIPLTP
8:11607630-11607630 G>A	0.0	4287	COLON	-	-	ID=COSM1454350;OCCURENCE=1(large_intestine)	-	GATA4	uc011kxc.1,p.R266H|uc003wub.1,p.R59H|ENST00000528712,p.R59H|ENST00000526716,p.R59H|ENST00000335135,p.R265H|NM_002052,p.R265H|ENST00000532059,p.R266H|uc003wuc.2,p.R265H	retained_intron, protein_coding, processed_transcript	uc011kxc.1	nonsynonymous SNV	exon3	c.G797A	p.R266H	PLIKPQRRLSASRRVGLSCANCQTT	PLIKPQRRLSASHRVGLSCANCQTT	1.0	10.0	-	-	4287_8:11607630-11607630 G>A_PLIKPQRRLSASHRVGLSCANCQTT
6:136589448-136589448 C>A	0.0	4287	COLON	-	rs78267720	-	2	BCLAF1	uc011edb.1,p.R78L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011edb.1	nonsynonymous SNV	exon1	c.G233T	p.R78L	FCSKHKREQDHSRSSSSSASPSSPS	FCSKHKREQDHSLSSSSSASPSSPS	10.0	8.0	unscreened	-	4287_6:136589448-136589448 C>A_FCSKHKREQDHSLSSSSSASPSSPS
3:75786753-75786753 C>T	1.0	4287	COLON	-	rs3009020	-	-	ZNF717	uc011bgi.2,p.R674H|NM_001290209,p.R624H|NM_001128223,p.R674H|ENST00000422325,p.R674H|NM_001290208,p.R674H|ENST00000478296,p.R624H|ENST00000400845,p.R667H	protein_coding, processed_transcript	uc011bgi.2	nonsynonymous SNV	exon5	c.G2021A	p.R674H	LTIHQRTHTGKNRMDVMNVEKLFVR	LTIHQRTHTGKNHMDVMNVEKLFVR	6.0	4.0	unscreened	-	4287_3:75786753-75786753 C>T_LTIHQRTHTGKNHMDVMNVEKLFVR
10:50340326-50340326 C>T	0.0	4287	COLON	-	-	-	-	FAM170B	uc001jhj.3,p.A62T|NM_001164484,p.A62T|ENST00000311787,p.A62T	protein_coding	uc001jhj.3	nonsynonymous SNV	exon2	c.G184A	p.A62T	GPAIPREEGLYFAARDRGMRDWSSS	GPAIPREEGLYFTARDRGMRDWSSS	1.0	10.0	-	-	4287_10:50340326-50340326 C>T_GPAIPREEGLYFTARDRGMRDWSSS
6:136589448-136589448 C>A	0.0	4287	COLON	-	rs78267720	-	2	BCLAF1	NM_014739,p.R750L|ENST00000530767,p.R577L|ENST00000353331,p.R748L|NM_001077440,p.R748L|ENST00000531224,p.R750L|ENST00000392348,p.R748L|uc003qgw.1,p.R577L|uc011ede.1,p.R748L|uc003qgx.1,p.R750L|ENST00000527759,p.R748L|ENST00000527536,p.R750L|uc003qgy.1,p.R748L|NM_001301038,p.R748L|NM_001077441,p.R577L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ede.1	nonsynonymous SNV	exon10	c.G2243T	p.R748L	DDSKHKREQDHSRSSSSSASPSSPS	DDSKHKREQDHSLSSSSSASPSSPS	10.0	8.0	unscreened	-	4287_6:136589448-136589448 C>A_DDSKHKREQDHSLSSSSSASPSSPS
22:32756308-32756308 G>A	0.0	4287	COLON	-	-	ID=COSM1033607,COSM1033606;OCCURENCE=1(endometrium)	-	RFPL3	ENST00000397468,p.R119Q|NM_006604,p.R119Q|ENST00000382088,p.R119Q|uc003amj.3,p.R148Q|ENST00000249007,p.R148Q|uc010gwn.3,p.R119Q|NM_001098535,p.R148Q	protein_coding	uc010gwn.3	nonsynonymous SNV	exon3	c.G356A	p.R119Q	NFLLISDDLRSVRSGLITQNRQDLA	NFLLISDDLRSVQSGLITQNRQDLA	1.0	10.0	-	-	4287_22:32756308-32756308 G>A_NFLLISDDLRSVQSGLITQNRQDLA
7:18875201-18875201 C>A	0.0	4287	COLON	-	-	-	-	HDAC9	NM_058176,p.P857T|NM_178425,p.P860T|ENST00000432645,p.P857T|ENST00000401921,p.P816T|uc003sue.3,p.P857T|ENST00000441542,p.P860T|ENST00000406451,p.P857T|uc003suh.3,p.P857T|uc003suj.3,p.P816T|uc003suk.3,p.P105T|NM_178423,p.P857T|uc003sui.3,p.P860T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003suk.3	nonsynonymous SNV	exon4	c.C313A	p.P105T	YDEGNFFPGSGAPNEVGTGLGEGYN	YDEGNFFPGSGATNEVGTGLGEGYN	6.0	10.0	-	-	4287_7:18875201-18875201 C>A_YDEGNFFPGSGATNEVGTGLGEGYN
2:44079544-44079544 G>A	0.0	4287	COLON	-	-	-	-	ABCG8	uc010yoa.2,p.V205M|NM_022437,p.V205M|ENST00000272286,p.V205M|uc002rtq.3,p.V205M	protein_coding	uc010yoa.2	nonsynonymous SNV	exon5	c.G613A	p.V205M	AELRLRQCADTRVGNMYVRGLSGGE	AELRLRQCADTRMGNMYVRGLSGGE	1.0	5.0	unscreened	-	4287_2:44079544-44079544 G>A_AELRLRQCADTRMGNMYVRGLSGGE
15:68118729-68118729 C>T	0.0	4287	COLON	-	-	ID=COSM1478306,COSM1478307;OCCURENCE=1(breast)	-	SKOR1	ENST00000389002,p.A179V|ENST00000380035,p.A188V|ENST00000554054,p.A160V|ENST00000554240,p.A149V|uc031qsn.1,p.A374V|NM_001258024,p.A374V|ENST00000341418,p.A374V	protein_coding	uc031qsn.1	nonsynonymous SNV	exon5	c.C1121T	p.A374V	PENFAFDVVHECAWGSRGSFIPARY	PENFAFDVVHECVWGSRGSFIPARY	2.0	5.0	unscreened	-	4287_15:68118729-68118729 C>T_PENFAFDVVHECVWGSRGSFIPARY
5:9629421-9629421 ->GCAGTGGGAGAA	0.0	4287	COLON	-	-	-	-	TAS2R1	uc003jem.1,p.M242delinsFSHCM|NM_019599,p.M242delinsFSHCM|ENST00000382492,p.M242delinsFSHCM	protein_coding	uc003jem.1	nonframeshift insertion	exon1	c.723_724insTTCTCCCACTGC	p.M242delinsFSHCM	ILSFLILYFSHCMIKVFLSSLKFHI	ILSFLILYFSHCFSHCMIKVFLSSL	1.0	6.0	unscreened	-	4287_5:9629421-9629421 ->GCAGTGGGAGAA_ILSFLILYFSHCFSHCMIKVFLSSL
15:42743008-42743008 G>C	1.0	4287	COLON	-	-	-	-	ZNF106	uc001zpw.3,p.Q465E|ENST00000565948,p.Q248E|uc010udh.1,p.Q248E|uc001zpy.1,p.Q488E|ENST00000263805,p.Q465E|NM_022473,p.Q465E	retained_intron, protein_coding, processed_transcript	uc010udh.1	nonsynonymous SNV	exon2	c.C742G	p.Q248E	PLLPCPATKSLSQKQDPKNISKNTK	PLLPCPATKSLSEKQDPKNISKNTK	9.0	7.0	unscreened	-	4287_15:42743008-42743008 G>C_PLLPCPATKSLSEKQDPKNISKNTK
20:57430254-57430254 G>A	0.0	4287	COLON	-	-	-	1	GNAS	uc002xzw.3,p.R645H|ENST00000371099,p.R645H|ENST00000371102,p.R645H|ENST00000371100,p.R645H|NM_080425,p.R645H|ENST00000349036,p.R18H	retained_intron, protein_coding, processed_transcript	uc002xzw.3	nonsynonymous SNV	exon1	c.G1934A	p.R645H	SLKVKKVPLAEKRRQMRKEALEKRA	SLKVKKVPLAEKHRQMRKEALEKRA	10.0	4.0	unscreened	-	4287_20:57430254-57430254 G>A_SLKVKKVPLAEKHRQMRKEALEKRA
3:130992350-130992350 A>T	0.0	4287	COLON	-	-	-	-	NEK11	uc011bll.2,p.E445D|uc003enz.3,p.E368D|ENST00000429253,p.E550D|uc003eny.3,p.E550D|ENST00000510769,p.E445D|ENST00000508196,p.E550D|ENST00000412440,p.E366D|NM_024800,p.E550D|ENST00000383366,p.E550D|uc011blk.2,p.E366D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bll.2	nonsynonymous SNV	exon13	c.A1335T	p.E445D	TSLDTKTITTMAEDMSPGPPIFNSV	TSLDTKTITTMADDMSPGPPIFNSV	6.0	5.0	unscreened	-	4287_3:130992350-130992350 A>T_TSLDTKTITTMADDMSPGPPIFNSV
1:15905424-15905424 T>G	1.0	4287	COLON	-	-	-	-	AGMAT	ENST00000375826,p.K217T|NM_024758,p.K217T|uc001awv.2,p.K217T	protein_coding	uc001awv.2	nonsynonymous SNV	exon4	c.A650C	p.K217T	FRRCVDEGLLDCKRVVQIGIRGSST	FRRCVDEGLLDCTRVVQIGIRGSST	7.0	1.0	unscreened	-	4287_1:15905424-15905424 T>G_FRRCVDEGLLDCTRVVQIGIRGSST
3:184103940-184103940 G>A	0.0	4287	COLON	-	-	-	-	CHRD	uc010hyc.3,p.R232Q|ENST00000450923,p.R642Q|uc003foy.3,p.R272Q|uc003fox.3,p.R642Q|NM_003741,p.R642Q|uc003fow.3,p.R272Q|ENST00000348986,p.R602Q|uc003fov.3,p.R642Q|ENST00000204604,p.R642Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hyc.3	nonsynonymous SNV	exon12	c.G695A	p.R232Q	MITTKGSPRGELRGQVHIANQCEVG	MITTKGSPRGELQGQVHIANQCEVG	4.0	3.0	unscreened	-	4287_3:184103940-184103940 G>A_MITTKGSPRGELQGQVHIANQCEVG
19:50945515-50945515 C>T	0.0	4287	COLON	-	-	-	-	MYBPC2	NM_004533,p.P283S|ENST00000357701,p.P283S|uc002psf.2,p.P283S	retained_intron, protein_coding	uc002psf.2	nonsynonymous SNV	exon9	c.C847T	p.P283S	GNKIKLMVEISDPDLTLKWFKNGQE	GNKIKLMVEISDSDLTLKWFKNGQE	3.0	10.0	-	-	4287_19:50945515-50945515 C>T_GNKIKLMVEISDSDLTLKWFKNGQE
7:142562308-142562308 ->G	0.0	4287	COLON	-	-	-	-	EPHB6	ENST00000442129,p.A250fs|NM_004445,p.A250fs|uc011ksu.2,p.A250fs|ENST00000392957,p.A250fs|uc011kst.2,p.A250fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ksu.2	frameshift insertion	exon7	c.751dupG	p.A250fs	SFASFPETQASGAGGASLVAAVGTC	SFASFPETQASGAGGGLPGGSCGHLCGSCRARGGWSRGPGRRQPPQAALQRGGQVDGSCRGLPLPAWIPTSTRRQGLPSLPTGAL	4.0	6.0	unscreened	-	4287_7:142562308-142562308 ->G_SFASFPETQASGAGGGLPGGSCGHLCGSCRARGGWSRGPGRRQPPQAALQRGGQVDGSCRGLPLPAWIPTSTRRQGLPSLPTGAL
1:156552866-156552866 A>C	0.0	4287	COLON	-	-	-	-	TTC24	ENST00000368236,p.S315R|uc021pbf.1,p.S315R|ENST00000368237,p.S315R|NM_001105669,p.S315R	protein_coding, processed_transcript	uc021pbf.1	nonsynonymous SNV	exon4	c.A943C	p.S315R	HGSVGQRWEQGRSFGSLAFALSQLG	HGSVGQRWEQGRRFGSLAFALSQLG	2.0	6.0	unscreened	-	4287_1:156552866-156552866 A>C_HGSVGQRWEQGRRFGSLAFALSQLG
2:40342635-40342635 C>T	1.0	4287	COLON	-	-	-	-	SLC8A1	ENST00000408028,p.A886T|uc002rsb.2,p.A886T|ENST00000332839,p.A894T|NM_001252624,p.A886T|ENST00000405901,p.A889T|uc002rrx.3,p.A894T|uc002rry.3,p.A889T|ENST00000402441,p.A858T|NM_001112801,p.A881T|uc002rsd.4,p.A858T|ENST00000542756,p.A889T|NM_001112800,p.A889T|ENST00000542024,p.A858T|NM_021097,p.A894T|ENST00000406391,p.A858T|NM_001112802,p.A858T|ENST00000405269,p.A858T|uc002rsa.3,p.A858T|ENST00000406785,p.A858T|uc002rrz.3,p.A881T|ENST00000403092,p.A894T	protein_coding, nonsense_mediated_decay	uc002rsd.4	nonsynonymous SNV	exon8	c.G2572A	p.A858T	IGVAWSIAAIYHAANGEQFKVSPGT	IGVAWSIAAIYHTANGEQFKVSPGT	5.0	10.0	-	-	4287_2:40342635-40342635 C>T_IGVAWSIAAIYHTANGEQFKVSPGT
1:27621108-27621108 G>-	0.0	4287	COLON	-	-	ID=COSM1192853;OCCURENCE=11(large_intestine)	-	WDTC1	ENST00000361771,p.M287fs|ENST00000447062,p.M287fs|uc009vst.3,p.M287fs|ENST00000319394,p.M287fs|NM_015023,p.M287fs|uc001bno.4,p.M287fs|NM_001276252,p.M287fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc009vst.3	frameshift deletion	exon9	c.861delG	p.M287fs	TFSPNGTELLVNMGGEQVYLFDLTY	TFSPNGTELLVNMGGNRSICLT	7.0	7.0	unscreened	-	4287_1:27621108-27621108 G>-_TFSPNGTELLVNMGGNRSICLT
6:117650567-117650570 CCTT>-	0.0	4287	COLON	-	-	-	1	ROS1	uc003pxp.1,p.E1763fs|ENST00000368508,p.E1763fs|ENST00000403284,p.E70fs|NM_002944,p.E1763fs|ENST00000368507,p.E1757fs	protein_coding	uc003pxp.1	frameshift deletion	exon32	c.5288_5291del	p.E1763fs	GVPNKPGIPKLLEGSKNSIQWEKAE	GVPNKPGIPKLLGVKIQYSGRKLKIMDVELHTISLR	6.0	6.0	unscreened	-	4287_6:117650567-117650570 CCTT>-_GVPNKPGIPKLLGVKIQYSGRKLKIMDVELHTISLR
3:158399795-158399795 C>T	1.0	4287	COLON	-	-	-	-	GFM1	ENST00000478576,p.T538I|ENST00000486715,p.T538I|ENST00000264263,p.T557I|uc003fcg.3,p.T469I|uc003fcd.3,p.T538I|uc003fce.3,p.T538I|NM_024996,p.T538I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003fcg.3	nonsynonymous SNV	exon13	c.C1406T	p.T469I	RETITAPVPFDFTHKKQSGGAGQYG	RETITAPVPFDFIHKKQSGGAGQYG	9.0	4.0	unscreened	-	4287_3:158399795-158399795 C>T_RETITAPVPFDFIHKKQSGGAGQYG
7:138602300-138602300 A>G	1.0	4287	COLON	-	-	-	2	KIAA1549	ENST00000422774,p.L691P|ENST00000440172,p.L691P|NM_001164665,p.L691P|uc011kqj.2,p.L691P|uc011kql.2,p.L691P|ENST00000242365,p.L641P|NM_020910,p.L691P	protein_coding	uc011kql.2	nonsynonymous SNV	exon2	c.T2072C	p.L691P	QSSQLSLPSSTNLEFSQLQPSSELP	QSSQLSLPSSTNPEFSQLQPSSELP	5.0	1.0	unscreened	-	4287_7:138602300-138602300 A>G_QSSQLSLPSSTNPEFSQLQPSSELP
12:53010017-53010017 C>A	0.0	4287	COLON	-	-	-	-	KRT73	uc001sas.3,p.G199W|ENST00000305748,p.G199W|NM_175068,p.G199W	retained_intron, protein_coding	uc001sas.3	nonsynonymous SNV	exon2	c.G595T	p.G199W	ISNLRKQLETLSGDRVRLDSELRSV	ISNLRKQLETLSWDRVRLDSELRSV	1.0	10.0	-	-	4287_12:53010017-53010017 C>A_ISNLRKQLETLSWDRVRLDSELRSV
19:19115317-19115317 G>T	1.0	4287	COLON	-	-	-	-	SUGP2	uc002nla.1,p.S863R|ENST00000452918,p.S863R|uc002nkz.1,p.S877R|ENST00000330854,p.S863R|ENST00000456085,p.S632R|uc010xqk.1,p.S632R|uc002nkx.2,p.S863R|uc002nlb.2,p.S863R|NM_001017392,p.S863R|ENST00000600377,p.S877R|ENST00000601879,p.S863R|NM_014884,p.S863R|ENST00000594773,p.S863R|ENST00000337018,p.S863R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010xqk.1	nonsynonymous SNV	exon7	c.C1896A	p.S632R	HTGGGDTTGSQESPVDLMEGEAEFE	HTGGGDTTGSQERPVDLMEGEAEFE	7.0	2.0	unscreened	-	4287_19:19115317-19115317 G>T_HTGGGDTTGSQERPVDLMEGEAEFE
7:100636291-100636291 C>A	1.0	4287	COLON	-	-	-	-	MUC12	uc003uxo.3,p.T816K|ENST00000379442,p.T959K|NM_001164462,p.T816K|ENST00000536621,p.T816K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.C2447A	p.T816K	SMETTALPGSTTTPGLSERSTTFHS	SMETTALPGSTTKPGLSERSTTFHS	9.0	10.0	-	-	4287_7:100636291-100636291 C>A_SMETTALPGSTTKPGLSERSTTFHS
19:17769033-17769033 C>T	0.0	4287	COLON	-	-	-	-	UNC13A	NM_001080421,p.R202H|ENST00000551649,p.R202H|ENST00000252773,p.R202H|uc031rjv.1,p.R202H|ENST00000519716,p.R202H|ENST00000550896,p.R202H|ENST00000428389,p.R290H|ENST00000552293,p.R202H|uc031rjw.1,p.R202H	retained_intron, protein_coding	uc031rjw.1	nonsynonymous SNV	exon9	c.G605A	p.R202H	PDSAVDDRDSDYRSETSNSIPPPYY	PDSAVDDRDSDYHSETSNSIPPPYY	3.0	10.0	-	-	4287_19:17769033-17769033 C>T_PDSAVDDRDSDYHSETSNSIPPPYY
5:134010843-134010843 A>C	1.0	4287	COLON	-	-	-	-	SEC24A	uc003kzs.3,p.T363P|NM_001252231,p.T363P|ENST00000322887,p.T363P|NM_021982,p.T363P|uc011cxu.2,p.T127P|ENST00000398844,p.T363P|uc021ydr.1,p.T363P	protein_coding	uc021ydr.1	nonsynonymous SNV	exon6	c.A1087C	p.T363P	VNLLQERNMLPSTPLKPPVPNLHED	VNLLQERNMLPSPPLKPPVPNLHED	8.0	7.0	unscreened	-	4287_5:134010843-134010843 A>C_VNLLQERNMLPSPPLKPPVPNLHED
12:56717929-56717929 A>C	1.0	4287	COLON	-	-	-	-	PAN2	uc001skz.3,p.F656V|NM_001127460,p.F657V|uc001sky.3,p.F657V|ENST00000440411,p.F657V|ENST00000257931,p.F656V|NM_014871,p.F657V|NM_001166279,p.F656V|ENST00000425394,p.F657V|ENST00000548043,p.F657V|uc001skx.3,p.F657V	retained_intron, protein_coding, processed_transcript	uc001skz.3	nonsynonymous SNV	exon13	c.T1966G	p.F656V	FCSSGDSVIGQLFSCEMENCSLCRC	FCSSGDSVIGQLVSCEMENCSLCRC	8.0	1.0	unscreened	-	4287_12:56717929-56717929 A>C_FCSSGDSVIGQLVSCEMENCSLCRC
X:47039371-47039371 C>T	0.0	4287	COLON	-	-	-	1	RBM10	NM_001204468,p.R397C|uc010nhq.3,p.R255C|NM_152856,p.R255C|NM_005676,p.R332C|NM_001204467,p.R332C|NM_001204466,p.R255C|ENST00000377604,p.R332C|ENST00000345781,p.R255C|ENST00000329236,p.R255C|uc004dhf.3,p.R332C|uc004dhi.3,p.R397C|uc004dhg.3,p.R255C|uc004dhh.3,p.R332C	protein_coding, processed_transcript	uc010nhq.3	nonsynonymous SNV	exon9	c.C763T	p.R255C	LAPYAVLSSSNVRVIKDKQTQLNRG	LAPYAVLSSSNVCVIKDKQTQLNRG	9.0	9.0	-	-	4287_X:47039371-47039371 C>T_LAPYAVLSSSNVCVIKDKQTQLNRG
11:132307161-132307161 C>T	0.0	4287	COLON	-	-	-	-	OPCML	ENST00000374778,p.D166N|ENST00000541867,p.D207N|uc010sck.2,p.D207N|uc001qgs.3,p.D207N|uc010scl.2,p.D166N|ENST00000524381,p.D200N|uc001qgu.3,p.D200N|ENST00000331898,p.D207N|uc001qgt.3,p.D206N|NM_001012393,p.D200N|NM_002545,p.D207N	protein_coding, processed_transcript	uc010scl.2	nonsynonymous SNV	exon5	c.G496A	p.D166N	DQSGEYECSALNDVAAPDVRKVKIT	DQSGEYECSALNNVAAPDVRKVKIT	1.0	3.0	unscreened	-	4287_11:132307161-132307161 C>T_DQSGEYECSALNNVAAPDVRKVKIT
20:57430254-57430254 G>A	0.0	4287	COLON	-	-	-	1	GNAS	NM_001077490,p.A583T|ENST00000306120,p.A582T	retained_intron, protein_coding, processed_transcript	NM_001077490	nonsynonymous SNV	exon1	c.G1747A	p.A583T	LSRSRRYPWRRSADRCAKKPWRSGP	LSRSRRYPWRRSTDRCAKKPWRSGP	10.0	4.0	unscreened	-	4287_20:57430254-57430254 G>A_LSRSRRYPWRRSTDRCAKKPWRSGP
7:99217553-99217553 G>C	1.0	4287	COLON	-	-	-	-	ZSCAN25	ENST00000394150,p.E108D|ENST00000334715,p.E108D|NM_145115,p.E108D|ENST00000262941,p.E108D|uc003url.1,p.E108D|ENST00000394152,p.E108D|uc010lgf.1,p.E108D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lgf.1	nonsynonymous SNV	exon1	c.G324C	p.E108D	REFYAWIREHGPESGKALAAMVEDL	REFYAWIREHGPDSGKALAAMVEDL	8.0	2.0	unscreened	-	4287_7:99217553-99217553 G>C_REFYAWIREHGPDSGKALAAMVEDL
10:31138595-31138595 T>G	1.0	4287	COLON	-	-	-	-	ZNF438	NM_182755,p.T247P|ENST00000413025,p.T247P|NM_001143770,p.T237P|uc001ivp.4,p.T237P|uc001ivn.3,p.T198P|ENST00000452305,p.T237P|uc010qeb.2,p.T247P|ENST00000444692,p.T237P|uc010qea.2,p.T247P|ENST00000442986,p.T247P|NM_001143768,p.T247P|ENST00000436087,p.T247P|uc009xlg.3,p.T247P|ENST00000538351,p.T198P|uc010qdy.2,p.T237P|ENST00000331737,p.T237P|ENST00000361310,p.T247P|NM_001143771,p.T237P|uc010qdz.2,p.T247P|NM_001143769,p.T198P|NM_001143767,p.T247P|NM_001143766,p.T247P	protein_coding	uc010qeb.2	nonsynonymous SNV	exon5	c.A739C	p.T247P	ALSGKAHFVSKITSSKPSAVASEKF	ALSGKAHFVSKIPSSKPSAVASEKF	5.0	10.0	-	-	4287_10:31138595-31138595 T>G_ALSGKAHFVSKIPSSKPSAVASEKF
5:57755708-57755708 C>G	1.0	4287	COLON	-	-	-	-	PLK2	uc003jrn.3,p.G27R|NM_001252226,p.G27R|NM_006622,p.G27R|ENST00000274289,p.G27R|uc021xyx.1,p.G27R	retained_intron, protein_coding, processed_transcript	uc021xyx.1	nonsynonymous SNV	exon1	c.G79C	p.G27R	TKMCEQALGKGCGADSKKKRPPQPP	TKMCEQALGKGCRADSKKKRPPQPP	7.0	10.0	-	-	4287_5:57755708-57755708 C>G_TKMCEQALGKGCRADSKKKRPPQPP
5:89923114-89923114 G>T	0.0	4287	COLON	-	-	-	-	GPR98	NM_032119,p.E253D|ENST00000405460,p.E253D|uc003kju.3,p.E253D	retained_intron, protein_coding, processed_transcript	uc003kju.3	nonsynonymous SNV	exon7	c.G759T	p.E253D	GGAEINTSRNSIEIIIKKNDSPVRF	GGAEINTSRNSIDIIIKKNDSPVRF	5.0	8.0	-	-	4287_5:89923114-89923114 G>T_GGAEINTSRNSIDIIIKKNDSPVRF
2:74867231-74867231 G>A	0.0	4287	COLON	-	-	-	-	M1AP	NM_138804,p.P58S|uc010ysa.2,p.P58S|ENST00000421985,p.P58S|NM_001281295,p.P58S|ENST00000536235,p.P58S|ENST00000290536,p.P58S|ENST00000422394,p.P58S|NM_001281296,p.P58S|ENST00000438226,p.P58S|ENST00000409585,p.P58S|uc002smz.2,p.P58S|uc002smy.3,p.P58S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ysa.2	nonsynonymous SNV	exon2	c.C172T	p.P58S	QNFFSLACSLMGPSRMSLFSLYMVQ	QNFFSLACSLMGSSRMSLFSLYMVQ	2.0	7.0	unscreened	-	4287_2:74867231-74867231 G>A_QNFFSLACSLMGSSRMSLFSLYMVQ
X:47836418-47836418 T>C	0.0	4287	COLON	-	-	-	-	ZNF182	NM_006962,p.I356M|ENST00000305127,p.I356M|NM_001178099,p.I356M|ENST00000396965,p.I356M|uc004dit.3,p.I356M|NM_001007088,p.I337M|uc004dir.3,p.I356M|ENST00000376943,p.I337M|uc004dis.3,p.I337M	protein_coding	uc004dit.3	nonsynonymous SNV	exon7	c.A1068G	p.I356M	KTYECTKCGESFIQKLDLIIHHSTH	KTYECTKCGESFMQKLDLIIHHSTH	5.0	9.0	-	-	4287_X:47836418-47836418 T>C_KTYECTKCGESFMQKLDLIIHHSTH
4:55953820-55953820 C>T	0.0	4287	COLON	-	-	-	1	KDR	uc003has.3,p.E1206K|NM_002253,p.E1206K|uc003hat.1,p.E1206K|ENST00000263923,p.E1206K	retained_intron, protein_coding	uc003hat.1	nonsynonymous SNV	exon27	c.G3616A	p.E1206K	LPTSPVSCMEEEEVCDPKFHYDNTA	LPTSPVSCMEEEKVCDPKFHYDNTA	6.0	9.0	-	-	4287_4:55953820-55953820 C>T_LPTSPVSCMEEEKVCDPKFHYDNTA
1:232941569-232941569 C>T	0.0	4287	COLON	-	-	-	-	MAP10	uc001hvh.2,p.P267L|NM_019090,p.P267L|ENST00000418460,p.P267L	protein_coding	uc001hvh.2	nonsynonymous SNV	exon1	c.C800T	p.P267L	LATLLLQLPPGRPTPTPQLLGACDI	LATLLLQLPPGRLTPTPQLLGACDI	3.0	9.0	-	-	4287_1:232941569-232941569 C>T_LATLLLQLPPGRLTPTPQLLGACDI
11:61723303-61723303 G>A	0.0	4287	COLON	-	-	-	-	BEST1	NM_004183,p.G121S|uc010rlr.1,p.G121S|uc001nsq.3,p.G15S|NM_001139443,p.G61S|ENST00000435278,p.G121S|NM_001300787,p.G61S|uc001nss.3,p.G121S|ENST00000378042,p.G61S|uc010rlu.1,p.G15S|uc010rlt.2,p.G61S|ENST00000449131,p.G61S|uc010rlp.2,p.G61S|uc001nsr.2,p.G61S|uc010rlq.1,p.G61S|NM_001300786,p.G61S|uc001nst.3,p.G61S|ENST00000524926,p.G121S|ENST00000534553,p.G15S|ENST00000378043,p.G121S|ENST00000526988,p.G15S|uc010rlv.2,p.G15S	retained_intron, protein_coding, nonsense_mediated_decay	uc010rlv.2	nonsynonymous SNV	exon2	c.G43A	p.G15S	LVSGFVEGKDEQGRLLRRTLIRYAN	LVSGFVEGKDEQSRLLRRTLIRYAN	5.0	8.0	unscreened	-	4287_11:61723303-61723303 G>A_LVSGFVEGKDEQSRLLRRTLIRYAN
16:28074524-28074535 GGCGGCGGCGGC>-	0.0	4287	COLON	-	-	-	-	GSG1L	ENST00000447459,p.71_74del|uc002doz.2,p.71_74del|ENST00000395724,p.71_74del|uc010bya.1,p.71_74del|NM_001109763,p.71_74del	protein_coding, nonsense_mediated_decay	uc010bya.1	nonframeshift deletion	exon1	c.211_222del	p.71_74del	ATANGTAAPAAAAAAATASGNGPPG	ATANGTAAPAAATASGNGPPGGALY	1.0	9.0	unscreened	-	4287_16:28074524-28074535 GGCGGCGGCGGC>-_ATANGTAAPAAATASGNGPPGGALY
2:139308164-139308168 AAAAT>-	1.0	4287	COLON	-	-	-	-	SPOPL	NM_001001664,p.K64fs|uc002tvh.3,p.K64fs|ENST00000280098,p.K64fs|ENST00000420679,p.K64fs	retained_intron, protein_coding, nonsense_mediated_decay	uc002tvh.3	frameshift deletion	exon3	c.190_194del	p.K64fs	LKSSTFSSGPSDKMKWCLRVNPKGL	LKSSTFSSGPSDEMVPEGKPKGIR	8.0	3.0	-	-	4287_2:139308164-139308168 AAAAT>-_LKSSTFSSGPSDEMVPEGKPKGIR
8:105393532-105393532 G>A	0.0	4287	COLON	-	-	-	-	DPYS	uc003yly.4,p.P485L|NM_001385,p.P485L|ENST00000351513,p.P485L|uc010mcf.1,p.P55L	retained_intron, protein_coding, processed_transcript	uc010mcf.1	nonsynonymous SNV	exon3	c.C164T	p.P55L	YKRIKQRDRTCTPTPVERAPYKGEV	YKRIKQRDRTCTLTPVERAPYKGEV	3.0	5.0	unscreened	-	4287_8:105393532-105393532 G>A_YKRIKQRDRTCTLTPVERAPYKGEV
1:228294582-228294582 C>T	1.0	4287	COLON	-	-	-	-	MRPL55	ENST00000366735,p.R89H|uc001hsa.4,p.R89H|NM_181454,p.R89H|NM_181465,p.R89H|NM_181462,p.R125H|uc001hse.4,p.R89H|NM_181464,p.R89H|uc001hsb.4,p.R89H|ENST00000366738,p.R125H|ENST00000366733,p.R89H|ENST00000366746,p.R89H|ENST00000366736,p.R89H|ENST00000366734,p.R89H|ENST00000366732,p.R86H|uc009xex.3,p.R89H|ENST00000430433,p.R125H|uc001hsd.4,p.R89H|NM_181455,p.R89H|ENST00000411464,p.R89H|ENST00000366740,p.R89H|uc001hsc.4,p.R89H|ENST00000366739,p.R89H|ENST00000348259,p.R89H|ENST00000336520,p.R89H|ENST00000366744,p.R89H|ENST00000336300,p.R89H|NM_181463,p.R89H|ENST00000366741,p.R89H|ENST00000391867,p.R89H|uc001hsf.4,p.R89H|uc001hsg.4,p.R89H|ENST00000366742,p.R89H|uc001hrz.4,p.R125H|NM_181441,p.R89H|ENST00000366747,p.R89H|ENST00000366731,p.R125H|ENST00000295008,p.R89H|NM_181456,p.R89H	protein_coding, processed_transcript	uc009xex.3	nonsynonymous SNV	exon5	c.G266A	p.R89H	MPIDLDTLSPEERRARLRKREAQLQ	MPIDLDTLSPEEHRARLRKREAQLQ	6.0	4.0	unscreened	-	4287_1:228294582-228294582 C>T_MPIDLDTLSPEEHRARLRKREAQLQ
3:77657039-77657039 C>A	1.0	4287	COLON	-	-	-	2	ROBO2	ENST00000332191,p.P1076H|uc003dpz.3,p.P1080H|uc021xat.1,p.P1092H|NM_002942,p.P1076H|NM_001290039,p.P1080H|uc011bgj.3,p.P483H|NM_001290065,p.P483H|ENST00000461745,p.P1076H|uc011bgk.2,p.P1080H|uc003dpy.4,p.P1076H|uc003dqa.3,p.P203H|ENST00000487694,p.P1092H|NM_001290040,p.P1080H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xat.1	nonsynonymous SNV	exon21	c.C3275A	p.P1092H	NNGSTWANVPLPPPPVQPLPGTELE	NNGSTWANVPLPHPPVQPLPGTELE	6.0	7.0	unscreened	-	4287_3:77657039-77657039 C>A_NNGSTWANVPLPHPPVQPLPGTELE
16:82033600-82033600 C>T	1.0	4287	COLON	-	-	ID=COSM379114;OCCURENCE=1(lung)	-	SDR42E1	ENST00000328945,p.V100I|NM_145168,p.V100I|uc002fgu.3,p.V100I|ENST00000532128,p.V97I	protein_coding, ambiguous_orf	uc002fgu.3	nonsynonymous SNV	exon3	c.G298A	p.V100I	EQLNRNLIKEVNVRGTDNILQVCQR	EQLNRNLIKEVNIRGTDNILQVCQR	5.0	3.0	unscreened	-	4287_16:82033600-82033600 C>T_EQLNRNLIKEVNIRGTDNILQVCQR
12:55968382-55968382 C>T	0.0	4287	COLON	-	-	ID=COSM3384499;OCCURENCE=1(pancreas)	-	OR2AP1	uc031qhr.1,p.R62W|NM_001258285,p.R62W|ENST00000321688,p.R62W	protein_coding	uc031qhr.1	nonsynonymous SNV	exon1	c.C184T	p.R62W	DSHLQTPMYFFLRNFSFLEISFTNI	DSHLQTPMYFFLWNFSFLEISFTNI	1.0	9.0	-	-	4287_12:55968382-55968382 C>T_DSHLQTPMYFFLWNFSFLEISFTNI
12:124862833-124862833 T>C	1.0	4287	COLON	-	-	-	1	NCOR2	NM_006312,p.E706G|uc010tba.2,p.E706G|uc010tbc.2,p.E705G|uc001ugj.1,p.E706G|ENST00000405201,p.E706G|ENST00000458234,p.E706G|uc010tbb.2,p.E706G|ENST00000404621,p.E705G|NM_001206654,p.E705G|ENST00000429285,p.E705G|ENST00000404121,p.E276G|ENST00000397355,p.E706G|ENST00000356219,p.E706G|uc021rgc.1,p.E705G|ENST00000448614,p.E96G|NM_001077261,p.E705G	retained_intron, protein_coding	uc021rgc.1	nonsynonymous SNV	exon20	c.A2114G	p.E705G	AAFPPVVEDEEMEASGVSGNEEEMV	AAFPPVVEDEEMGASGVSGNEEEMV	9.0	3.0	unscreened	-	4287_12:124862833-124862833 T>C_AAFPPVVEDEEMGASGVSGNEEEMV
10:49929324-49929324 C>A	0.0	4287	COLON	-	-	-	-	WDFY4	ENST00000325239,p.A123D|uc001jha.4,p.A123D|NM_020945,p.A123D|ENST00000413659,p.A123D|uc001jgy.3,p.A123D|ENST00000360890,p.A123D	protein_coding, processed_transcript	uc001jha.4	nonsynonymous SNV	exon4	c.C368A	p.A123D	LVGKPAEQARLAAGQLLWWKGDVDQ	LVGKPAEQARLADGQLLWWKGDVDQ	5.0	6.0	unscreened	-	4287_10:49929324-49929324 C>A_LVGKPAEQARLADGQLLWWKGDVDQ
2:179751502-179751502 G>T	0.0	4287	COLON	-	-	-	-	CCDC141	ENST00000420890,p.L502M|ENST00000446116,p.L437M|NM_173648,p.L502M|ENST00000443758,p.L502M|uc002ung.3,p.L502M|ENST00000409284,p.L502M|uc002une.2,p.L502M	protein_coding, processed_transcript	uc002ung.3	nonsynonymous SNV	exon10	c.C1504A	p.L502M	TRSESEKILNKYLELDIQAKETSHE	TRSESEKILNKYMELDIQAKETSHE	4.0	1.0	unscreened	-	4287_2:179751502-179751502 G>T_TRSESEKILNKYMELDIQAKETSHE
14:21559195-21559195 C>T	1.0	4287	COLON	0.0005	-	-	-	ZNF219	NM_016423,p.G557S|NM_001102454,p.G557S|uc001vzs.2,p.G557S|ENST00000360947,p.G557S|ENST00000451119,p.G557S|ENST00000421093,p.G557S|uc001vzr.2,p.G557S|uc010aik.1,p.G557S|NM_001101672,p.G557S	retained_intron, protein_coding, processed_transcript, TEC	uc010aik.1	nonsynonymous SNV	exon5	c.G1669A	p.G557S	LQRHHREQRSGAGPGPPPEPPPPSQ	LQRHHREQRSGASPGPPPEPPPPSQ	5.0	10.0	-	-	4287_14:21559195-21559195 C>T_LQRHHREQRSGASPGPPPEPPPPSQ
11:64397970-64397970 T>C	1.0	4287	COLON	-	-	-	-	NRXN2	ENST00000301894,p.S175G|uc021qkx.1,p.S1181G|ENST00000409571,p.S1214G|ENST00000377559,p.S1181G|ENST00000377551,p.S1221G|NM_138732,p.S1181G|uc001oas.3,p.S1181G|ENST00000423049,p.S136G|NM_138734,p.S175G|ENST00000265459,p.S1221G|uc001oap.3,p.S175G|uc001oaq.3,p.S888G|NM_015080,p.S1221G|uc021qkw.1,p.S1221G	retained_intron, protein_coding, processed_transcript	uc021qkx.1	nonsynonymous SNV	exon17	c.A3541G	p.S1181G	DDITIDEPNAIVSDGKYHVVRFTRS	DDITIDEPNAIVGDGKYHVVRFTRS	7.0	2.0	unscreened	-	4287_11:64397970-64397970 T>C_DDITIDEPNAIVGDGKYHVVRFTRS
13:39446897-39446897 T>C	0.0	4287	COLON	-	-	-	-	FREM2	NM_207361,p.S2668P|ENST00000280481,p.S2668P|uc001uwv.3,p.S2668P	protein_coding, processed_transcript	uc001uwv.3	nonsynonymous SNV	exon17	c.T8002C	p.S2668P	IGTDGQVLNLVQSYVTLRVPLYVSY	IGTDGQVLNLVQPYVTLRVPLYVSY	6.0	3.0	unscreened	-	4287_13:39446897-39446897 T>C_IGTDGQVLNLVQPYVTLRVPLYVSY
4:62542606-62542606 C>T	0.0	4287	COLON	-	-	-	-	LPHN3	ENST00000511324,p.P179L|ENST00000507625,p.P179L|ENST00000514157,p.P111L|ENST00000506700,p.P111L|ENST00000514591,p.P111L|ENST00000507164,p.P179L|ENST00000545650,p.P111L|ENST00000506746,p.P179L|ENST00000509896,p.P179L|uc010ihh.3,p.P111L|ENST00000514996,p.P111L|ENST00000506720,p.P179L|uc010ihg.1,p.P179L|ENST00000508693,p.P179L|ENST00000512091,p.P111L|ENST00000508946,p.P111L|uc003hcq.4,p.P111L|NM_015236,p.P111L|ENST00000504896,p.P111L	retained_intron, protein_coding, processed_transcript	uc010ihh.3	nonsynonymous SNV	exon3	c.C332T	p.P111L	VVAGPDVFPDPCPGTYKYLEVQYEC	VVAGPDVFPDPCLGTYKYLEVQYEC	5.0	4.0	unscreened	-	4287_4:62542606-62542606 C>T_VVAGPDVFPDPCLGTYKYLEVQYEC
19:20003296-20003296 C>G	1.0	4287	COLON	-	-	-	-	ZNF253	uc002noj.3,p.H414D|ENST00000355650,p.H338D|NM_021047,p.H414D|uc002nok.3,p.H338D|ENST00000589717,p.H414D	retained_intron, protein_coding	uc002nok.3	nonsynonymous SNV	exon2	c.C1012G	p.H338D	GKTFTWPSILSKHKRTHTGEKPYKC	GKTFTWPSILSKDKRTHTGEKPYKC	10.0	10.0	-	-	4287_19:20003296-20003296 C>G_GKTFTWPSILSKDKRTHTGEKPYKC
X:12939075-12939075 A>T	0.0	4287	COLON	-	-	-	-	TLR8	uc004cvd.3,p.K657M|NM_016610,p.K657M|ENST00000218032,p.K639M|ENST00000311912,p.K657M|uc004cve.3,p.K639M|NM_138636,p.K639M	protein_coding	uc004cve.3	nonsynonymous SNV	exon2	c.A1916T	p.K639M	DDNRYISIFKGLKNLTRLDLSLNRL	DDNRYISIFKGLMNLTRLDLSLNRL	4.0	1.0	unscreened	-	4287_X:12939075-12939075 A>T_DDNRYISIFKGLMNLTRLDLSLNRL
19:49868824-49868824 T>G	0.0	4287	COLON	-	-	-	-	DKKL1	uc021uxl.1,p.L81R|NM_001197301,p.L81R|ENST00000597546,p.L81R|uc002pnk.3,p.L81R|ENST00000221498,p.L81R|NM_014419,p.L81R	protein_coding	uc021uxl.1	nonsynonymous SNV	exon3	c.T242G	p.L81R	DSLFSAPMDFRGLPGNYHKEENQEH	DSLFSAPMDFRGRPGNYHKEENQEH	1.0	10.0	-	-	4287_19:49868824-49868824 T>G_DSLFSAPMDFRGRPGNYHKEENQEH
4:138452774-138452774 G>T	0.0	4287	COLON	-	-	-	-	PCDH18	ENST00000344876,p.P157T|ENST00000412923,p.P157T|uc003ihe.4,p.P157T|NM_019035,p.P157T|uc003ihf.4,p.P150T|NM_001300828,p.P157T	protein_coding	uc003ihf.4	nonsynonymous SNV	exon1	c.C448A	p.P150T	EISESAAVGTRIPLDSAFDPDVGEN	EISESAAVGTRITLDSAFDPDVGEN	4.0	1.0	unscreened	-	4287_4:138452774-138452774 G>T_EISESAAVGTRITLDSAFDPDVGEN
5:82948397-82948397 C>T	0.0	4287	COLON	-	-	-	-	HAPLN1	ENST00000503117,p.G115E|uc003kin.3,p.G116E|ENST00000274341,p.G116E|ENST00000515590,p.G116E|ENST00000504713,p.G116E|ENST00000510978,p.G116E|ENST00000508307,p.G116E|ENST00000514416,p.G116E|NM_001884,p.G116E|uc003kim.3,p.G116E	protein_coding	uc003kin.3	nonsynonymous SNV	exon3	c.G347A	p.G116E	TYGGYQGRVFLKGGSDSDASLVITD	TYGGYQGRVFLKEGSDSDASLVITD	2.0	10.0	-	-	4287_5:82948397-82948397 C>T_TYGGYQGRVFLKEGSDSDASLVITD
X:55784750-55784750 C>-	0.0	4287	COLON	-	-	-	-	RRAGB	ENST00000262850,p.P367fs|uc004dup.3,p.P367fs|NM_006064,p.P339fs|uc004duq.3,p.P339fs|ENST00000374941,p.P339fs|NM_016656,p.P367fs	protein_coding, processed_transcript	uc004duq.3	frameshift deletion	exon10	c.1015delC	p.P339fs	RKHFEKLERVDGPKQCLLMR	RKHFEKLERVDGQSSVFSCA	8.0	4.0	unscreened	-	4287_X:55784750-55784750 C>-_RKHFEKLERVDGQSSVFSCA
11:88323804-88323804 C>T	0.0	4287	COLON	-	-	-	-	GRM5	ENST00000455756,p.C552Y|uc001pcq.3,p.C552Y|uc009yvm.3,p.C552Y|ENST00000418177,p.C552Y|NM_001143831,p.C552Y|ENST00000305432,p.C552Y|ENST00000305447,p.C552Y|ENST00000393297,p.C552Y|NM_000842,p.C552Y	protein_coding	uc009yvm.3	nonsynonymous SNV	exon7	c.G1655A	p.C552Y	NEYVFDEYTCKACQLGSWPTDDLTG	NEYVFDEYTCKAYQLGSWPTDDLTG	1.0	9.0	-	-	4287_11:88323804-88323804 C>T_NEYVFDEYTCKAYQLGSWPTDDLTG
1:33567442-33567442 C>A	0.0	4287	COLON	-	-	-	-	AZIN2	ENST00000358680,p.N188K|uc001bwz.1,p.N346K|NM_001301826,p.N346K|uc009vuf.1,p.N188K|uc001bwy.1,p.N195K|ENST00000373440,p.N188K	protein_coding, processed_transcript	uc009vuf.1	nonsynonymous SNV	exon5	c.C564A	p.N188K	NICPTPILQKSKNHSPCYMSLESIH	NICPTPILQKSKKHSPCYMSLESIH	6.0	1.0	unscreened	-	4287_1:33567442-33567442 C>A_NICPTPILQKSKKHSPCYMSLESIH
10:103898502-103898502 T>A	1.0	4287	COLON	-	-	-	-	PPRC1	uc001kun.3,p.S37T|NM_001288728,p.S37T	protein_coding, processed_transcript	uc001kun.3	nonsynonymous SNV	exon3	c.T109A	p.S37T	ALESIPDSELLVSPREGSSLHKLLT	ALESIPDSELLVTPREGSSLHKLLT	6.0	7.0	unscreened	-	4287_10:103898502-103898502 T>A_ALESIPDSELLVTPREGSSLHKLLT
10:103898502-103898502 T>A	1.0	4287	COLON	-	-	-	-	PPRC1	uc010qqj.2,p.S157T|ENST00000278070,p.S157T|ENST00000413464,p.S157T|NM_001288727,p.S157T|NM_015062,p.S157T|uc001kum.3,p.S157T	protein_coding, processed_transcript	uc010qqj.2	nonsynonymous SNV	exon3	c.T469A	p.S157T	PFDSIPDSELLVSPREGSSLHKLLT	PFDSIPDSELLVTPREGSSLHKLLT	6.0	7.0	unscreened	-	4287_10:103898502-103898502 T>A_PFDSIPDSELLVTPREGSSLHKLLT
19:55444952-55444952 T>G	0.0	4287	COLON	-	-	-	-	NLRP7	NM_139176,p.K848T|NM_206828,p.K876T|ENST00000586379,p.K876T|ENST00000328092,p.K848T|uc002qig.4,p.K848T|uc010esk.3,p.K876T|ENST00000446217,p.K904T|ENST00000592784,p.K876T|ENST00000340844,p.K876T|ENST00000588756,p.K876T|uc002qih.4,p.K876T|ENST00000448121,p.K848T|uc002qii.4,p.K876T|ENST00000590030,p.K876T|NM_001127255,p.K876T|uc010esl.3,p.K904T	protein_coding, nonsense_mediated_decay	uc010esl.3	nonsynonymous SNV	exon10	c.A2711C	p.K904T	KFLCEGLSYPDCKLQTLVLQQCSIT	KFLCEGLSYPDCTLQTLVLQQCSIT	3.0	1.0	unscreened	-	4287_19:55444952-55444952 T>G_KFLCEGLSYPDCTLQTLVLQQCSIT
3:36570217-36570217 A>T	0.0	4287	COLON	-	-	-	-	STAC	uc011aya.1,p.D256V|NM_003149,p.D317V|uc003cgh.1,p.D317V|NM_001292049,p.D256V|ENST00000457375,p.D256V|ENST00000273183,p.D317V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011aya.1	nonsynonymous SNV	exon7	c.A767T	p.D256V	EMRPGDIITLLEDSNEDWWKGKIQD	EMRPGDIITLLEVSNEDWWKGKIQD	5.0	5.0	unscreened	-	4287_3:36570217-36570217 A>T_EMRPGDIITLLEVSNEDWWKGKIQD
2:186660972-186660972 A>C	1.0	4287	COLON	-	-	-	-	FSIP2	uc002upl.3,p.K3126Q|ENST00000343098,p.K3126Q|NM_173651,p.K3126Q|ENST00000424728,p.K3037Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon16	c.A9376C	p.K3126Q	ENLSSIQQKLLNKKMLPKLQPLKMF	ENLSSIQQKLLNQKMLPKLQPLKMF	3.0	8.0	-	-	4287_2:186660972-186660972 A>C_ENLSSIQQKLLNQKMLPKLQPLKMF
X:100275514-100275514 T>C	0.0	4287	COLON	-	-	-	-	TRMT2B	uc004egq.3,p.Q377R|NM_001167971,p.Q332R|ENST00000372935,p.Q377R|uc004egt.3,p.Q377R|uc004egv.3,p.Q332R|uc004egr.3,p.Q377R|NM_001167972,p.Q377R|ENST00000372936,p.Q377R|NM_024917,p.Q377R|NM_001167970,p.Q377R|ENST00000372939,p.Q332R|ENST00000338687,p.Q332R|uc004egu.3,p.Q258R|ENST00000490509,p.Q377R|uc004egs.3,p.Q377R|ENST00000372931,p.Q377R|ENST00000545398,p.Q377R	protein_coding, processed_transcript, nonsense_mediated_decay	uc004egv.3	nonsynonymous SNV	exon11	c.A995G	p.Q332R	HTSRVLGIELLEQAVEDARWTAAFN	HTSRVLGIELLERAVEDARWTAAFN	8.0	7.0	unscreened	-	4287_X:100275514-100275514 T>C_HTSRVLGIELLERAVEDARWTAAFN
X:140967212-140967212 G>-	0.0	4287	COLON	-	-	-	-	MAGEC3	ENST00000298296,p.A170fs|NM_138702,p.A170fs|uc011mwp.2,p.A170fs	protein_coding, processed_transcript	uc011mwp.2	frameshift deletion	exon3	c.510delG	p.A170fs	AVSPGKRLWGEKAGSLPESEPLFTY	AVSPGKRLWGEKAGACQRASPCSLIHWMKRWTSWCSFFSSNIKQKSLSQEQRCR	1.0	3.0	unscreened	-	4287_X:140967212-140967212 G>-_AVSPGKRLWGEKAGACQRASPCSLIHWMKRWTSWCSFFSSNIKQKSLSQEQRCR
15:32688609-32688609 T>C	0.0	4287	COLON	-	-	-	-	GOLGA8K	NM_001282493,p.Q337R|ENST00000512626,p.Q337R	protein_coding	NM_001282493	nonsynonymous SNV	exon12	c.A1010G	p.Q337R	QVKKNQRISLLNQRQEERIQEQEER	QVKKNQRISLLNRRQEERIQEQEER	5.0	10.0	-	-	4287_15:32688609-32688609 T>C_QVKKNQRISLLNRRQEERIQEQEER
4:126240643-126240643 G>T	0.0	4287	COLON	-	-	-	1	FAT4	uc003ifj.4,p.G1026V|NM_024582,p.G1026V|NM_001291303,p.G1026V|ENST00000394329,p.G1026V|NM_001291285,p.G1026V	retained_intron, protein_coding	uc003ifj.4	nonsynonymous SNV	exon1	c.G3077T	p.G1026V	RFFKVQASDKDSGANGEIAYTIAEG	RFFKVQASDKDSVANGEIAYTIAEG	5.0	4.0	unscreened	-	4287_4:126240643-126240643 G>T_RFFKVQASDKDSVANGEIAYTIAEG
12:49431292-49431292 G>A	0.0	4287	COLON	-	-	-	1	KMT2D	uc001rta.4,p.H3283Y|ENST00000301067,p.H3283Y|NM_003482,p.H3283Y	retained_intron, protein_coding, processed_transcript	uc001rta.4	nonsynonymous SNV	exon34	c.C9847T	p.H3283Y	QPAQQQQQQQQQHSLLSAPGPAQAM	QPAQQQQQQQQQYSLLSAPGPAQAM	6.0	1.0	unscreened	-	4287_12:49431292-49431292 G>A_QPAQQQQQQQQQYSLLSAPGPAQAM
X:49127168-49127168 G>A	0.0	4287	COLON	-	-	ID=COSM1122499;OCCURENCE=1(endometrium)	-	PPP1R3F	ENST00000055335,p.R279H|uc004dnh.2,p.R279H|NM_033215,p.R279H	protein_coding	uc004dnh.2	nonsynonymous SNV	exon1	c.G836A	p.R279H	TPEGTFWANNHGRNYTVLLRIAPAP	TPEGTFWANNHGHNYTVLLRIAPAP	4.0	7.0	-	-	4287_X:49127168-49127168 G>A_TPEGTFWANNHGHNYTVLLRIAPAP
6:28056683-28056683 A>T	1.0	4287	COLON	-	-	-	-	ZNF165	uc003nkh.3,p.D298V|ENST00000377325,p.D298V|uc003nki.4,p.D298V|NM_003447,p.D298V|uc021yro.1,p.D298V	protein_coding	uc021yro.1	nonsynonymous SNV	exon4	c.A893T	p.D298V	FTHQKSCKHGTCDQSFKWNSDFINH	FTHQKSCKHGTCVQSFKWNSDFINH	6.0	6.0	unscreened	-	4287_6:28056683-28056683 A>T_FTHQKSCKHGTCVQSFKWNSDFINH
1:20880115-20880115 G>A	0.0	4287	COLON	-	-	-	-	FAM43B	NM_207334,p.V217M|ENST00000332947,p.V217M|uc001bdj.3,p.V217M	protein_coding	uc001bdj.3	nonsynonymous SNV	exon1	c.G649A	p.V217M	FKRLQRQSDARHVRQQHLRAGGAAA	FKRLQRQSDARHMRQQHLRAGGAAA	1.0	8.0	-	-	4287_1:20880115-20880115 G>A_FKRLQRQSDARHMRQQHLRAGGAAA
17:42750804-42750804 T>G	0.0	4287	COLON	-	-	-	-	C17orf104	ENST00000409122,p.L843R|uc002iha.3,p.L843R|ENST00000472403,p.L73R|NM_001145080,p.L843R	protein_coding, processed_transcript, nonsense_mediated_decay	uc002iha.3	nonsynonymous SNV	exon7	c.T2528G	p.L843R	RSSLLHASISTALDRHLESIHIVQS	RSSLLHASISTARDRHLESIHIVQS	1.0	1.0	unscreened	-	4287_17:42750804-42750804 T>G_RSSLLHASISTARDRHLESIHIVQS
8:57080755-57080755 C>T	0.0	4287	COLON	-	-	-	1	PLAG1	ENST00000316981,p.R25H|uc003xsr.4,p.R25H|ENST00000429357,p.R25H|NM_001114634,p.R25H|NM_002655,p.R25H|uc003xsq.4,p.R25H|uc010lyi.3,p.R25H	retained_intron, protein_coding, processed_transcript	uc010lyi.3	nonsynonymous SNV	exon3	c.G74A	p.R25H	RDTQKVPSGKRKRGETKPRKNFPCQ	RDTQKVPSGKRKHGETKPRKNFPCQ	5.0	10.0	-	-	4287_8:57080755-57080755 C>T_RDTQKVPSGKRKHGETKPRKNFPCQ
19:23544745-23544745 C>T	1.0	4287	COLON	-	-	-	-	ZNF91	NM_003430,p.G346R|uc002nre.3,p.G346R|ENST00000300619,p.G346R|NM_001300951,p.G314R|uc010xrj.2,p.G314R|ENST00000397082,p.G314R	retained_intron, protein_coding, processed_transcript	uc010xrj.2	nonsynonymous SNV	exon3	c.G940A	p.G314R	SSTLAKHKRIHTGEKPYKCKECGKA	SSTLAKHKRIHTREKPYKCKECGKA	10.0	1.0	unscreened	-	4287_19:23544745-23544745 C>T_SSTLAKHKRIHTREKPYKCKECGKA
1:152324848-152324848 T>A	0.0	4287	COLON	-	-	-	-	FLG2	uc001ezw.4,p.E1805V|ENST00000388718,p.E1805V|NM_001014342,p.E1805V	protein_coding	uc001ezw.4	nonsynonymous SNV	exon3	c.A5414T	p.E1805V	SRTTGRRSSGHSEYSDSEGHSGFSQ	SRTTGRRSSGHSVYSDSEGHSGFSQ	1.0	7.0	unscreened	-	4287_1:152324848-152324848 T>A_SRTTGRRSSGHSVYSDSEGHSGFSQ
6:62407100-62407100 C>T	0.0	4287	COLON	-	-	-	-	KHDRBS2	ENST00000281156,p.A318T|uc003peg.2,p.A318T|NM_152688,p.A318T	protein_coding	uc003peg.2	nonsynonymous SNV	exon8	c.G952A	p.A318T	GHGVSEDAYDSYAPEEWATTRSSLK	GHGVSEDAYDSYTPEEWATTRSSLK	3.0	10.0	-	-	4287_6:62407100-62407100 C>T_GHGVSEDAYDSYTPEEWATTRSSLK
19:964335-964335 T>C	1.0	4287	COLON	-	-	-	-	ARID3A	uc002lql.3,p.L285P|ENST00000587532,p.L132P|NM_005224,p.L285P|ENST00000263620,p.L285P	retained_intron, protein_coding, processed_transcript	uc002lql.3	nonsynonymous SNV	exon5	c.T854C	p.L285P	FMLYVLVTEKGGLVEVINKKLWREI	FMLYVLVTEKGGPVEVINKKLWREI	7.0	6.0	unscreened	-	4287_19:964335-964335 T>C_FMLYVLVTEKGGPVEVINKKLWREI
17:66933227-66933227 C>T	0.0	4287	COLON	-	-	-	-	ABCA8	uc010wqq.2,p.E111K|uc010wqr.2,p.E50K|uc002jhp.3,p.E111K|ENST00000586539,p.E111K|uc002jhs.3,p.E111K|uc002jhr.3,p.E111K|ENST00000269080,p.E111K|NM_007168,p.E111K|NM_001288985,p.E111K|ENST00000430352,p.E111K|uc002jhq.3,p.E111K|NM_001288986,p.E111K|uc002jht.3,p.E111K	retained_intron, protein_coding, non_stop_decay	uc010wqr.2	nonsynonymous SNV	exon3	c.G148A	p.E50K	LAGKEVLGLPDEESIKEFTANYPEE	LAGKEVLGLPDEKSIKEFTANYPEE	5.0	6.0	unscreened	-	4287_17:66933227-66933227 C>T_LAGKEVLGLPDEKSIKEFTANYPEE
1:212530329-212530329 ->CATTGAACCAACA	1.0	4287	COLON	-	-	-	-	PPP2R5A	uc010ptd.2,p.V282fs|ENST00000261461,p.V339fs|NM_006243,p.V339fs|NM_001199756,p.V282fs|ENST00000537030,p.V282fs|uc001hjb.3,p.V339fs	protein_coding, processed_transcript	uc010ptd.2	frameshift insertion	exon10	c.845_846insCATTGAACCAACA	p.V282fs	VMFLGEIEEILDVIEPTQFKKIEEP	VMFLGEIEEILDVIEPTH	9.0	2.0	unscreened	-	4287_1:212530329-212530329 ->CATTGAACCAACA_VMFLGEIEEILDVIEPTH
11:61723302-61723302 A>T	0.0	4287	COLON	-	-	-	-	BEST1	ENST00000524926,p.Q120H|ENST00000378042,p.Q60H|ENST00000526988,p.Q14H|uc010rlp.2,p.Q60H|uc001nsr.2,p.Q60H|uc010rlv.2,p.Q14H|uc001nsq.3,p.Q14H|uc010rlt.2,p.Q60H|NM_004183,p.Q120H|uc010rlu.1,p.Q14H|NM_001300786,p.Q60H|uc010rlr.1,p.Q120H|ENST00000534553,p.Q14H|uc001nst.3,p.Q60H|uc001nss.3,p.Q120H|NM_001139443,p.Q60H|ENST00000449131,p.Q60H|ENST00000378043,p.Q120H|uc010rlq.1,p.Q60H|NM_001300787,p.Q60H|ENST00000435278,p.Q120H	retained_intron, protein_coding, nonsense_mediated_decay	uc010rlv.2	nonsynonymous SNV	exon2	c.A42T	p.Q14H	SLVSGFVEGKDEQGRLLRRTLIRYA	SLVSGFVEGKDEHGRLLRRTLIRYA	5.0	8.0	-	-	4287_11:61723302-61723302 A>T_SLVSGFVEGKDEHGRLLRRTLIRYA
2:238280612-238280612 C>T	0.0	4287	COLON	-	-	-	-	COL6A3	ENST00000409809,p.D1144N|ENST00000353578,p.D1144N|ENST00000295550,p.D1350N|uc002vwr.3,p.D943N|ENST00000392004,p.D1144N|uc002vwo.2,p.D1144N|ENST00000472056,p.D743N|ENST00000347401,p.D1149N|NM_004369,p.D1350N|uc002vwl.2,p.D1350N|NM_057167,p.D1144N|ENST00000392003,p.D943N|uc002vwq.3,p.D1144N|ENST00000346358,p.D1150N|NM_057165,p.D1144N|uc010znj.1,p.D743N|NM_057164,p.D943N|NM_057166,p.D743N	retained_intron, protein_coding, processed_transcript	uc010znj.1	nonsynonymous SNV	exon6	c.G2227A	p.D743N	QFLVLISSGKSDDEVDDPAVELKQF	QFLVLISSGKSDNEVDDPAVELKQF	9.0	9.0	-	-	4287_2:238280612-238280612 C>T_QFLVLISSGKSDNEVDDPAVELKQF
13:46701799-46701799 A>G	0.0	4287	COLON	-	-	-	2	LCP1	uc001vay.4,p.L201P|NM_002298,p.L604P|uc001vba.4,p.L604P|ENST00000435666,p.L173P|ENST00000398576,p.L604P|uc001vaz.4,p.L604P|uc010ack.3,p.L173P|ENST00000323076,p.L604P	protein_coding, processed_transcript	uc010ack.3	nonsynonymous SNV	exon5	c.T518C	p.L173P	KIGARVYALPEDLVEVNPKMVMTVF	KIGARVYALPEDPVEVNPKMVMTVF	9.0	2.0	unscreened	-	4287_13:46701799-46701799 A>G_KIGARVYALPEDPVEVNPKMVMTVF
1:109377575-109377575 T>A	0.0	4287	COLON	-	-	-	-	AKNAD1	ENST00000369994,p.E517V	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000369994	nonsynonymous SNV	exon7	c.A1550T	p.E517V	TFSSLSNEAPNEELCELAPQTYLNG	TFSSLSNEAPNEVLCELAPQTYLNG	4.0	4.0	unscreened	-	4287_1:109377575-109377575 T>A_TFSSLSNEAPNEVLCELAPQTYLNG
20:3145252-3145252 C>T	0.0	4287	COLON	-	-	-	-	LZTS3	uc002wib.1,p.V578M|NM_001282533,p.V578M|ENST00000329152,p.V624M|uc002wia.1,p.V624M|ENST00000360342,p.V578M|ENST00000337576,p.V578M	protein_coding	uc002wib.1	nonsynonymous SNV	exon6	c.G1732A	p.V578M	VIEYQKQLQLSYVEMYQRNQQLERR	VIEYQKQLQLSYMEMYQRNQQLERR	5.0	7.0	unscreened	-	4287_20:3145252-3145252 C>T_VIEYQKQLQLSYMEMYQRNQQLERR
4:119948374-119948374 G>T	0.0	4287	COLON	-	-	-	-	SYNPO2	NM_133477,p.V284L|ENST00000307142,p.V284L|ENST00000434046,p.V284L|uc003icm.4,p.V284L|uc010ina.3,p.V284L|NM_001286754,p.V253L|NM_001128933,p.V284L|uc010inb.3,p.V284L|uc010inc.3,p.V212L|NM_001128934,p.V284L|ENST00000429713,p.V284L	protein_coding	uc010inc.3	nonsynonymous SNV	exon2	c.G634T	p.V212L	QESEAGDAGLPRVEVILDCSDRQKT	QESEAGDAGLPRLEVILDCSDRQKT	4.0	9.0	-	-	4287_4:119948374-119948374 G>T_QESEAGDAGLPRLEVILDCSDRQKT
X:107170002-107170002 T>C	0.0	4287	COLON	-	-	-	-	MID2	uc004enl.3,p.V636A|NM_012216,p.V636A|ENST00000443968,p.V606A|NM_052817,p.V606A|ENST00000262843,p.V636A|uc004enk.3,p.V606A	retained_intron, protein_coding	uc004enl.3	nonsynonymous SNV	exon10	c.T1907C	p.V636A	SWVFSRCNSNFVVRHNNKEMLVDVP	SWVFSRCNSNFVARHNNKEMLVDVP	6.0	2.0	unscreened	-	4287_X:107170002-107170002 T>C_SWVFSRCNSNFVARHNNKEMLVDVP
X:49113388-49113388 T>G	0.0	4287	COLON	-	-	-	-	FOXP3	ENST00000376199,p.K144T|uc004dnf.4,p.K179T|ENST00000557224,p.K144T|NM_001114377,p.K144T|ENST00000455775,p.K179T|uc004dne.4,p.K144T|ENST00000376197,p.K129T|ENST00000518685,p.K144T|uc022bwa.1,p.K129T|ENST00000376207,p.K179T|uc011mnc.2,p.K179T|NM_014009,p.K179T	protein_coding	uc022bwa.1	nonsynonymous SNV	exon4	c.A386C	p.K129T	LLCTFPNPSAPRKDSTLSAVPQSSY	LLCTFPNPSAPRTDSTLSAVPQSSY	4.0	4.0	unscreened	-	4287_X:49113388-49113388 T>G_LLCTFPNPSAPRTDSTLSAVPQSSY
2:27804451-27804451 G>T	1.0	4287	COLON	-	-	-	-	C2orf16	ENST00000408964,p.R1671L|NM_032266,p.R1671L|uc002rkz.4,p.R1671L	protein_coding	uc002rkz.4	nonsynonymous SNV	exon1	c.G5012T	p.R1671L	ERSHRSSSERRHRSPSQRSHRGPSE	ERSHRSSSERRHLSPSQRSHRGPSE	1.0	6.0	unscreened	-	4287_2:27804451-27804451 G>T_ERSHRSSSERRHLSPSQRSHRGPSE
1:110466600-110466600 G>A	0.0	4287	COLON	0.0005	-	-	-	CSF1	NM_172212,p.A453T|uc001dyw.4,p.A453T|ENST00000369802,p.A453T|ENST00000329608,p.A453T|uc001dyu.2,p.A453T|NM_000757,p.A453T	protein_coding, processed_transcript	uc001dyw.4	nonsynonymous SNV	exon6	c.G1357A	p.A453T	EGRRSTRDRRSPAEPEGGPASEGAA	EGRRSTRDRRSPTEPEGGPASEGAA	5.0	1.0	unscreened	-	4287_1:110466600-110466600 G>A_EGRRSTRDRRSPTEPEGGPASEGAA
6:150016329-150016329 G>C	1.0	4287	COLON	-	-	-	-	LATS1	ENST00000458696,p.T72S	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000458696	nonsynonymous SNV	exon2	c.C215G	p.T72S	PLQDMVIQALQKTNNRSIEAAIEFI	PLQDMVIQALQKSNNRSIEAAIEFI	7.0	2.0	unscreened	-	4287_6:150016329-150016329 G>C_PLQDMVIQALQKSNNRSIEAAIEFI
6:150016329-150016329 G>C	1.0	4287	COLON	-	-	-	-	LATS1	uc010kig.1,p.T21S|uc010kif.2,p.T21S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010kig.1	nonsynonymous SNV	exon4	c.C62G	p.T21S	LGQDMVIQALQKTNNRSIEAAIEFI	LGQDMVIQALQKSNNRSIEAAIEFI	7.0	2.0	unscreened	-	4287_6:150016329-150016329 G>C_LGQDMVIQALQKSNNRSIEAAIEFI
6:150016329-150016329 G>C	1.0	4287	COLON	-	-	-	-	LATS1	uc003qmv.2,p.T126S|NM_004690,p.T126S|ENST00000392273,p.T126S|ENST00000543571,p.T126S|uc003qmw.3,p.T126S|uc003qmu.2,p.T126S|NM_001270519,p.T126S|ENST00000253339,p.T126S	protein_coding, processed_transcript, nonsense_mediated_decay	uc003qmw.3	nonsynonymous SNV	exon3	c.C377G	p.T126S	FDEDMVIQALQKTNNRSIEAAIEFI	FDEDMVIQALQKSNNRSIEAAIEFI	7.0	2.0	unscreened	-	4287_6:150016329-150016329 G>C_FDEDMVIQALQKSNNRSIEAAIEFI
1:109377575-109377575 T>A	0.0	4287	COLON	-	-	-	-	AKNAD1	uc001dwa.4,p.E547V|ENST00000357393,p.E254V|ENST00000369995,p.E547V|uc010ovb.3,p.E254V|ENST00000370001,p.E547V|NM_152763,p.E547V	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ovb.3	nonsynonymous SNV	exon7	c.A761T	p.E254V	TPQGGPQEAPNEELCELAPQTYLNG	TPQGGPQEAPNEVLCELAPQTYLNG	4.0	4.0	unscreened	-	4287_1:109377575-109377575 T>A_TPQGGPQEAPNEVLCELAPQTYLNG
11:67220128-67220128 T>A	0.0	4287	COLON	-	-	-	-	GPR152	ENST00000312457,p.E23V|uc001olm.3,p.E23V|NM_206997,p.E23V	protein_coding	uc001olm.3	nonsynonymous SNV	exon1	c.A68T	p.E23V	ATGHRPRTELDDEDSYPQGGWDTVF	ATGHRPRTELDDVDSYPQGGWDTVF	1.0	3.0	unscreened	-	4287_11:67220128-67220128 T>A_ATGHRPRTELDDVDSYPQGGWDTVF
16:50733485-50733485 G>A	0.0	4287	COLON	-	-	-	-	NOD2	NM_001293557,p.E27K|ENST00000300589,p.E54K|uc010cbj.1,p.E27K|NM_022162,p.E54K|uc010cbk.1,p.E27K|uc002egm.1,p.E54K|ENST00000531674,p.E27K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010cbk.1	nonsynonymous SNV	exon2	c.G79A	p.E27K	VELLVSGSLEGFESVLDWLLSWEVL	VELLVSGSLEGFKSVLDWLLSWEVL	6.0	6.0	unscreened	-	4287_16:50733485-50733485 G>A_VELLVSGSLEGFKSVLDWLLSWEVL
11:129739892-129739892 A>C	1.0	4287	COLON	-	-	-	-	NFRKB	uc001qfh.3,p.L1033V|uc010sbw.1,p.L1020V|ENST00000304521,p.L1010V|uc009zcr.3,p.L296V|uc001qfi.3,p.L1010V|ENST00000524794,p.L1035V|ENST00000524746,p.L1010V|NM_006165,p.L1035V|ENST00000446488,p.L1010V|uc001qfg.3,p.L1035V|NM_001143835,p.L1010V	retained_intron, protein_coding, nonsense_mediated_decay	uc010sbw.1	nonsynonymous SNV	exon24	c.T3058G	p.L1020V	GGNTTGKGISATLHVTSNPVHAADS	GGNTTGKGISATVHVTSNPVHAADS	6.0	1.0	unscreened	-	4287_11:129739892-129739892 A>C_GGNTTGKGISATVHVTSNPVHAADS
12:50357341-50357341 C>A	0.0	4287	COLON	-	-	-	-	AQP5	ENST00000293599,p.L144I|uc001rvo.3,p.L144I|NM_001651,p.L144I	retained_intron, protein_coding	uc001rvo.3	nonsynonymous SNV	exon2	c.C430A	p.L144I	MVVELILTFQLALCIFASTDSRRTS	MVVELILTFQLAICIFASTDSRRTS	3.0	8.0	-	-	4287_12:50357341-50357341 C>A_MVVELILTFQLAICIFASTDSRRTS
16:57918229-57918229 A>T	0.0	4287	COLON	-	-	-	-	CNGB1	NM_001286130,p.S1193T|ENST00000251102,p.S1199T|ENST00000564448,p.S1193T|uc010cdh.2,p.S1193T|uc002emt.2,p.S1199T|NM_001297,p.S1199T	retained_intron, protein_coding, processed_transcript	uc010cdh.2	nonsynonymous SNV	exon33	c.T3577A	p.S1193T	RTPPEPPGSPPSSPPPASLGRPEGE	RTPPEPPGSPPSTPPPASLGRPEGE	1.0	9.0	-	-	4287_16:57918229-57918229 A>T_RTPPEPPGSPPSTPPPASLGRPEGE
1:27876613-27876613 C>T	1.0	4287	COLON	-	-	-	-	AHDC1	uc021ojw.1,p.A672T|uc009vsy.3,p.A672T|ENST00000374011,p.A672T|uc009vsz.1,p.A672T|NM_001029882,p.A672T|ENST00000247087,p.A672T	protein_coding, processed_transcript	uc021ojw.1	nonsynonymous SNV	exon1	c.G2014A	p.A672T	HRVQGFRRRGGKAGGFGGRGGGHAA	HRVQGFRRRGGKTGGFGGRGGGHAA	4.0	9.0	-	-	4287_1:27876613-27876613 C>T_HRVQGFRRRGGKTGGFGGRGGGHAA
4:155411540-155411540 C>T	0.0	4287	COLON	-	-	-	-	DCHS2	NM_001142552,p.R323H|ENST00000339452,p.R323H|uc011cik.1,p.R323H|ENST00000456341,p.R316H|ENST00000443500,p.R323H|uc003inx.2,p.R323H	protein_coding, processed_transcript	uc011cik.1	nonsynonymous SNV	exon1	c.G968A	p.R323H	PGAEVCRVRATDRDLGPNGFVRYSV	PGAEVCRVRATDHDLGPNGFVRYSV	2.0	9.0	-	-	4287_4:155411540-155411540 C>T_PGAEVCRVRATDHDLGPNGFVRYSV
X:129155042-129155042 G>A	0.0	4287	COLON	-	-	-	1	BCORL1	NM_021946,p.G1175E|ENST00000540052,p.G1175E|uc022cdu.1,p.G1175E|ENST00000303743,p.G1175E|ENST00000456822,p.G775E|uc010nrd.1,p.G1077E|ENST00000359304,p.G1175E|ENST00000218147,p.G1175E	protein_coding, processed_transcript	uc022cdu.1	nonsynonymous SNV	exon4	c.G3524A	p.G1175E	PRGASDSGKEHNGVRGKHKHRKPTK	PRGASDSGKEHNEVRGKHKHRKPTK	6.0	1.0	unscreened	-	4287_X:129155042-129155042 G>A_PRGASDSGKEHNEVRGKHKHRKPTK
18:30257211-30257211 C>A	0.0	4287	COLON	-	-	-	-	KLHL14	NM_020805,p.L557F|ENST00000359358,p.L557F|uc002kxm.1,p.L557F	protein_coding	uc002kxm.1	nonsynonymous SNV	exon8	c.G1671T	p.L557F	KGDQWNILQTPILEGRSGPGCAVLD	KGDQWNILQTPIFEGRSGPGCAVLD	1.0	1.0	unscreened	-	4287_18:30257211-30257211 C>A_KGDQWNILQTPIFEGRSGPGCAVLD
16:1270414-1270414 G>T	0.0	4287	COLON	-	-	-	-	CACNA1H	uc002cks.3,p.G2161V|NM_001005407,p.G2155V|NM_021098,p.G2161V|uc002cku.3,p.G856V|ENST00000565831,p.G2155V|ENST00000358590,p.G2155V|uc010brj.3,p.G872V|uc002ckt.3,p.G2155V|ENST00000348261,p.G2161V|uc002ckv.3,p.G850V	retained_intron, protein_coding	uc010brj.3	nonsynonymous SNV	exon17	c.G2615T	p.G872V	RADEQWRPSAELGSGEPGEAKAWGP	RADEQWRPSAELVSGEPGEAKAWGP	5.0	1.0	unscreened	-	4287_16:1270414-1270414 G>T_RADEQWRPSAELVSGEPGEAKAWGP
22:46326985-46326985 C>A	0.0	4287	COLON	-	-	-	-	WNT7B	uc010haa.2,p.G192V|uc003bgo.2,p.G188V|NM_058238,p.G188V|ENST00000339464,p.G188V|ENST00000409496,p.G192V|ENST00000410089,p.G172V	protein_coding	uc010haa.2	nonsynonymous SNV	exon3	c.G575T	p.G192V	ARRLMNLHNNEAGRKVLEDRMQLEC	ARRLMNLHNNEAVRKVLEDRMQLEC	1.0	9.0	-	-	4287_22:46326985-46326985 C>A_ARRLMNLHNNEAVRKVLEDRMQLEC
3:184103940-184103940 G>A	0.0	4287	COLON	-	-	-	-	CHRD	ENST00000545352,p.R272Q|uc011brr.2,p.R272Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011brr.2	nonsynonymous SNV	exon7	c.G815A	p.R272Q	MITTKGSPRGELRGQRRTVICDPVV	MITTKGSPRGELQGQRRTVICDPVV	4.0	3.0	unscreened	-	4287_3:184103940-184103940 G>A_MITTKGSPRGELQGQRRTVICDPVV
13:84454380-84454380 G>T	0.0	4287	COLON	-	-	-	-	SLITRK1	uc001vlk.3,p.N421K|NM_001281503,p.N421K|ENST00000377084,p.N421K|NM_052910,p.N421K	protein_coding	uc001vlk.3	nonsynonymous SNV	exon1	c.C1263A	p.N421K	NNIATVENNTFKNLLDLRWLYMDSN	NNIATVENNTFKKLLDLRWLYMDSN	1.0	8.0	-	-	4287_13:84454380-84454380 G>T_NNIATVENNTFKKLLDLRWLYMDSN
5:176831546-176831546 C>A	0.0	4287	COLON	-	-	-	-	F12	uc003mgo.4,p.A252S|NM_000505,p.A252S|ENST00000253496,p.A252S	retained_intron, protein_coding, processed_transcript	uc003mgo.4	nonsynonymous SNV	exon8	c.G754T	p.A252S	PWASEATYRNVTAEQARNWGLGGHA	PWASEATYRNVTSEQARNWGLGGHA	7.0	8.0	-	-	4287_5:176831546-176831546 C>A_PWASEATYRNVTSEQARNWGLGGHA
3:32931976-32931976 C>T	0.0	4287	COLON	-	-	ID=COSM3702411;OCCURENCE=1(liver)	-	TRIM71	ENST00000383763,p.A427V|uc003cff.3,p.A427V|NM_001039111,p.A427V	protein_coding	uc003cff.3	nonsynonymous SNV	exon4	c.C1280T	p.A427V	ISAVQQVLEEGRALDILLARDRMLA	ISAVQQVLEEGRVLDILLARDRMLA	3.0	2.0	unscreened	-	4287_3:32931976-32931976 C>T_ISAVQQVLEEGRVLDILLARDRMLA
6:84055960-84055960 T>A	1.0	4287	COLON	-	-	-	-	ME1	ENST00000543031,p.T103S|uc011dzb.2,p.T103S|NM_002395,p.T178S|ENST00000369705,p.T178S|uc003pjy.3,p.T178S	protein_coding	uc011dzb.2	nonsynonymous SNV	exon4	c.A307T	p.T103S	GMGIPVGKLALYTACGGMNPQECLP	GMGIPVGKLALYSACGGMNPQECLP	7.0	1.0	unscreened	-	4287_6:84055960-84055960 T>A_GMGIPVGKLALYSACGGMNPQECLP
X:49113388-49113388 T>G	0.0	4287	COLON	-	-	-	-	FOXP3	uc011mnb.2,p.K179T	protein_coding	uc011mnb.2	nonsynonymous SNV	exon4	c.A536C	p.K179T	LLCTFPNPSAPRKDRSVDRAGKDPR	LLCTFPNPSAPRTDRSVDRAGKDPR	4.0	4.0	unscreened	-	4287_X:49113388-49113388 T>G_LLCTFPNPSAPRTDRSVDRAGKDPR
20:57766949-57766949 C>T	0.0	4287	COLON	-	-	-	-	ZNF831	uc002yan.3,p.A292V|NM_178457,p.A292V|ENST00000371030,p.A292V	protein_coding	uc002yan.3	nonsynonymous SNV	exon1	c.C875T	p.A292V	WDSAPMASPGLPAASTQPWRKLPEQ	WDSAPMASPGLPVASTQPWRKLPEQ	2.0	9.0	-	-	4287_20:57766949-57766949 C>T_WDSAPMASPGLPVASTQPWRKLPEQ
2:179529192-179529192 A>T	0.0	4287	COLON	-	-	-	-	TTN	NM_001267550,p.V12092D|uc010zfk.2,p.V238D|ENST00000589042,p.V12092D|uc031rqc.1,p.V12092D	retained_intron, protein_coding	uc031rqc.1	nonsynonymous SNV	exon168	c.T36275A	p.V12092D	KVHPPQRAEVVPVKVHEAPKEIIPE	KVHPPQRAEVVPDKVHEAPKEIIPE	4.0	2.0	unscreened	-	4287_2:179529192-179529192 A>T_KVHPPQRAEVVPDKVHEAPKEIIPE
4:140291507-140291507 T>G	1.0	4287	COLON	-	-	-	-	NAA15	uc003ihu.1,p.D632E|ENST00000296543,p.D632E|ENST00000398947,p.D632E|NM_057175,p.D632E	retained_intron, protein_coding, processed_transcript	uc003ihu.1	nonsynonymous SNV	exon15	c.T1896G	p.D632E	QQRNQKKKKDDDDEEIGGPKEELIP	QQRNQKKKKDDDEEEIGGPKEELIP	8.0	1.0	unscreened	-	4287_4:140291507-140291507 T>G_QQRNQKKKKDDDEEEIGGPKEELIP
1:205899103-205899103 C>T	0.0	4287	COLON	-	-	-	-	SLC26A9	uc001hdp.3,p.G212S|NM_052934,p.G212S|ENST00000367134,p.G212S|uc001hdq.3,p.G212S|NM_134325,p.G212S|ENST00000340781,p.G212S|ENST00000367135,p.G212S	retained_intron, protein_coding	uc001hdq.3	nonsynonymous SNV	exon6	c.G634A	p.G212S	SESFIRGFMTAAGLQILISVLKYIF	SESFIRGFMTAASLQILISVLKYIF	3.0	8.0	-	-	4287_1:205899103-205899103 C>T_SESFIRGFMTAASLQILISVLKYIF
19:54781428-54781428 G>T	0.0	4287	COLON	-	-	-	-	LILRB2	NM_001278406,p.P446T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	NM_001278406	nonsynonymous SNV	exon8	c.C1336A	p.P446T	STPAGPEDQPLTPTGSDPQSGE	STPAGPEDQPLTTTGSDPQSGE	6.0	1.0	unscreened	-	4287_19:54781428-54781428 G>T_STPAGPEDQPLTTTGSDPQSGE
11:379974-379974 A>T	0.0	4287	COLON	-	-	-	-	B4GALNT4	NM_178537,p.E866V|uc001lpb.3,p.E866V|ENST00000329962,p.E866V	retained_intron, protein_coding, nonsense_mediated_decay	uc001lpb.3	nonsynonymous SNV	exon16	c.A2597T	p.E866V	SRFSVVLVDFESEDMDVERALRAAR	SRFSVVLVDFESVDMDVERALRAAR	7.0	4.0	unscreened	-	4287_11:379974-379974 A>T_SRFSVVLVDFESVDMDVERALRAAR
19:54781428-54781428 G>T	0.0	4287	COLON	-	-	-	-	LILRB2	ENST00000391748,p.P445T|NM_001278403,p.P445T|ENST00000314446,p.P445T|uc002qfc.3,p.P445T|NM_001080978,p.P445T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002qfc.3	nonsynonymous SNV	exon9	c.C1333A	p.P445T	ISTPGPEDQPLTPTGSDPQSGLGRH	ISTPGPEDQPLTTTGSDPQSGLGRH	6.0	1.0	unscreened	-	4287_19:54781428-54781428 G>T_ISTPGPEDQPLTTTGSDPQSGLGRH
19:54781428-54781428 G>T	0.0	4287	COLON	-	-	-	-	LILRB2	ENST00000391746,p.P446T|uc010yet.2,p.P330T|NM_001278405,p.P446T|ENST00000391749,p.P446T|NM_001278404,p.P330T|NM_005874,p.P446T|uc010eri.3,p.P446T|uc002qfb.3,p.P446T|ENST00000434421,p.P330T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yet.2	nonsynonymous SNV	exon8	c.C988A	p.P330T	STPAGPEDQPLTPTGSDPQSGLGRH	STPAGPEDQPLTTTGSDPQSGLGRH	6.0	1.0	unscreened	-	4287_19:54781428-54781428 G>T_STPAGPEDQPLTTTGSDPQSGLGRH
X:74644535-74644535 G>C	0.0	4287	COLON	-	-	-	-	ZDHHC15	uc004ecg.3,p.L230V|NM_001146256,p.L221V|NM_144969,p.L230V|ENST00000373367,p.L230V|ENST00000541184,p.L221V|uc004ech.3,p.L221V	protein_coding, processed_transcript	uc004ech.3	nonsynonymous SNV	exon7	c.C661G	p.L221V	FVACMFFVSLVILFGYHCWLVSRNK	FVACMFFVSLVIVFGYHCWLVSRNK	4.0	8.0	-	-	4287_X:74644535-74644535 G>C_FVACMFFVSLVIVFGYHCWLVSRNK
13:51921194-51921194 C>T	1.0	4287	COLON	-	-	-	-	SERPINE3	ENST00000400389,p.P175L|uc001vfh.2,p.P175L|ENST00000524365,p.P175L|NM_001101320,p.P175L|uc010tgp.2,p.P175L|ENST00000521255,p.P175L	protein_coding	uc010tgp.2	nonsynonymous SNV	exon3	c.C524T	p.P175L	AGGGPSEGPGGWPWEQVSAAFAQLV	AGGGPSEGPGGWLWEQVSAAFAQLV	1.0	3.0	unscreened	-	4287_13:51921194-51921194 C>T_AGGGPSEGPGGWLWEQVSAAFAQLV
1:157497542-157497542 T>C	0.0	4287	COLON	-	-	-	-	FCRL5	uc010phw.1,p.S524G|ENST00000356953,p.S609G|NM_001195388,p.S609G|uc010phv.1,p.S609G|NM_031281,p.S609G|uc009wsm.3,p.S609G|ENST00000368191,p.S524G|uc001fqu.3,p.S609G|ENST00000361835,p.S609G|ENST00000368190,p.S609G	protein_coding, processed_transcript	uc010phw.1	nonsynonymous SNV	exon8	c.A1570G	p.S524G	LYWFYHEDVTLGSSSAPSGGEASFN	LYWFYHEDVTLGGSSAPSGGEASFN	5.0	9.0	-	-	4287_1:157497542-157497542 T>C_LYWFYHEDVTLGGSSAPSGGEASFN
X:100275515-100275515 G>T	0.0	4287	COLON	-	-	-	-	TRMT2B	ENST00000372931,p.Q377K|ENST00000372936,p.Q377K|uc004egq.3,p.Q377K|NM_001167970,p.Q377K|NM_001167971,p.Q332K|uc004egs.3,p.Q377K|uc004egu.3,p.Q258K|uc004egr.3,p.Q377K|ENST00000338687,p.Q332K|ENST00000545398,p.Q377K|uc004egv.3,p.Q332K|NM_001167972,p.Q377K|uc004egt.3,p.Q377K|ENST00000372939,p.Q332K|NM_024917,p.Q377K|ENST00000490509,p.Q377K|ENST00000372935,p.Q377K	protein_coding, processed_transcript, nonsense_mediated_decay	uc004egv.3	nonsynonymous SNV	exon11	c.C994A	p.Q332K	HTSRVLGIELLEQAVEDARWTAAFN	HTSRVLGIELLEKAVEDARWTAAFN	8.0	7.0	unscreened	-	4287_X:100275515-100275515 G>T_HTSRVLGIELLEKAVEDARWTAAFN
16:2503283-2503283 G>C	1.0	4287	COLON	-	-	-	-	CCNF	uc002cqe.1,p.K212N|NM_001761,p.K520N|ENST00000397066,p.K520N|uc002cqd.1,p.K520N	retained_intron, protein_coding, nonsense_mediated_decay	uc002cqe.1	nonsynonymous SNV	exon13	c.G636C	p.K212N	VSLTAVKQRFEDKRYGEISQEEVLS	VSLTAVKQRFEDNRYGEISQEEVLS	5.0	4.0	unscreened	-	4287_16:2503283-2503283 G>C_VSLTAVKQRFEDNRYGEISQEEVLS
16:82104574-82104574 G>T	1.0	4287	COLON	-	-	-	-	HSD17B2	ENST00000199936,p.G169V|ENST00000566838,p.G45V|ENST00000569351,p.G97V|ENST00000563491,p.G33V|NM_002153,p.G169V|ENST00000568090,p.G33V|uc002fgv.3,p.G169V	protein_coding, TEC	uc002fgv.3	nonsynonymous SNV	exon3	c.G506T	p.G169V	QDRGLWAVINNAGVLGFPTDGELLL	QDRGLWAVINNAVVLGFPTDGELLL	6.0	5.0	unscreened	-	4287_16:82104574-82104574 G>T_QDRGLWAVINNAVVLGFPTDGELLL
16:82104574-82104574 G>T	1.0	4287	COLON	-	-	-	-	HSD17B2	ENST00000566213,p.G98V	protein_coding, TEC	ENST00000566213	nonsynonymous SNV	exon2	c.G293T	p.G98V	LVTGLWAVINNAGVLGFPTDGELLL	LVTGLWAVINNAVVLGFPTDGELLL	6.0	5.0	unscreened	-	4287_16:82104574-82104574 G>T_LVTGLWAVINNAVVLGFPTDGELLL
2:206614520-206614520 G>A	1.0	4287	COLON	-	-	-	-	NRP2	uc002vay.3,p.E620K|ENST00000360409,p.E620K|NM_201279,p.E620K|uc002vau.3,p.E620K|NM_003872,p.E620K|ENST00000540841,p.E620K|NM_201267,p.E620K|NM_201266,p.E620K|uc002vax.3,p.E620K|ENST00000412873,p.E620K|ENST00000357785,p.E620K|ENST00000540178,p.E620K|NM_018534,p.E620K|ENST00000357118,p.E620K|ENST00000272849,p.E620K|uc002vav.3,p.E620K|uc002vaw.3,p.E620K	retained_intron, protein_coding, processed_transcript	uc002vay.3	nonsynonymous SNV	exon11	c.G1858A	p.E620K	VKSEETTTPYPTEEEATECGENCSF	VKSEETTTPYPTKEEATECGENCSF	7.0	9.0	-	-	4287_2:206614520-206614520 G>A_VKSEETTTPYPTKEEATECGENCSF
9:117139780-117139780 T>G	0.0	4287	COLON	-	-	-	-	AKNA	ENST00000374075,p.S22R|uc004bip.3,p.S22R	protein_coding, processed_transcript	uc004bip.3	nonsynonymous SNV	exon1	c.A64C	p.S22R	PEAEAEDVDSPASSHEPLAWLPQQG	PEAEAEDVDSPARSHEPLAWLPQQG	6.0	5.0	unscreened	-	4287_9:117139780-117139780 T>G_PEAEAEDVDSPARSHEPLAWLPQQG
9:117139780-117139780 T>G	0.0	4287	COLON	-	-	-	-	AKNA	uc004biv.1,p.S103R|ENST00000374088,p.S103R|ENST00000312033,p.S103R|ENST00000307564,p.S103R|uc004biq.3,p.S103R|uc004biw.1,p.S103R|uc004bir.3,p.S103R|uc004bis.3,p.S103R|NM_030767,p.S103R	protein_coding, processed_transcript	uc004biw.1	nonsynonymous SNV	exon3	c.A307C	p.S103R	EEAEAEDVDSPASSHEPLAWLPQQG	EEAEAEDVDSPARSHEPLAWLPQQG	6.0	5.0	unscreened	-	4287_9:117139780-117139780 T>G_EEAEAEDVDSPARSHEPLAWLPQQG
7:100639527-100639527 G>T	1.0	4287	COLON	-	-	-	-	MUC12	uc003uxo.3,p.G1895C|NM_001164462,p.G1895C|ENST00000379442,p.G2038C|ENST00000536621,p.G1895C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.G5683T	p.G1895C	ISSGSMETTALPGSTTTPGLSEKST	ISSGSMETTALPCSTTTPGLSEKST	9.0	7.0	unscreened	-	4287_7:100639527-100639527 G>T_ISSGSMETTALPCSTTTPGLSEKST
15:42041839-42041839 T>A	1.0	4287	COLON	-	-	-	-	MGA	NM_001164273,p.S2012T|NM_001080541,p.S1803T|ENST00000570161,p.S2012T|ENST00000566586,p.S1803T|uc001zoi.3,p.S226T|ENST00000219905,p.S2012T|ENST00000389936,p.S1973T|uc010ucy.2,p.S2012T|uc010uda.1,p.S628T|uc010ucz.2,p.S1803T|ENST00000545763,p.S1803T	retained_intron, protein_coding, processed_transcript	uc010uda.1	nonsynonymous SNV	exon6	c.T1882A	p.S628T	AVDPEANVIKQNSGAATSEETLNDS	AVDPEANVIKQNTGAATSEETLNDS	8.0	2.0	unscreened	-	4287_15:42041839-42041839 T>A_AVDPEANVIKQNTGAATSEETLNDS
18:50278663-50278663 G>T	0.0	4287	COLON	-	-	-	2	DCC	ENST00000581559,p.D43Y|NM_005215,p.D111Y|ENST00000582875,p.D45Y|ENST00000442544,p.D111Y|uc002lfe.2,p.D111Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lfe.2	nonsynonymous SNV	exon2	c.G331T	p.D111Y	IQNILHSRHHKPDEGLYQCEASLGD	IQNILHSRHHKPYEGLYQCEASLGD	5.0	4.0	unscreened	-	4287_18:50278663-50278663 G>T_IQNILHSRHHKPYEGLYQCEASLGD
8:107782168-107782168 C>T	0.0	4287	COLON	-	-	ID=COSM168473;OCCURENCE=1(large_intestine)	-	ABRA	NM_139166,p.R84H|ENST00000311955,p.R84H|uc003ymm.4,p.R84H	protein_coding	uc003ymm.4	nonsynonymous SNV	exon1	c.G251A	p.R84H	HQKAQSAPKSPPRLPEGHGDGQSSE	HQKAQSAPKSPPHLPEGHGDGQSSE	1.0	9.0	-	-	4287_8:107782168-107782168 C>T_HQKAQSAPKSPPHLPEGHGDGQSSE
4:119978581-119978581 C>A	0.0	4287	COLON	-	-	-	-	SYNPO2	NM_001286755,p.L95M|uc011cgh.2,p.L95M|ENST00000448416,p.L95M	protein_coding	uc011cgh.2	nonsynonymous SNV	exon3	c.C283A	p.L95M	LIKRRVGAPFLFLEDQSHPPFLHLL	LIKRRVGAPFLFMEDQSHPPFLHLL	4.0	4.0	unscreened	-	4287_4:119978581-119978581 C>A_LIKRRVGAPFLFMEDQSHPPFLHLL
19:10676487-10676487 ->CC	0.0	4287	COLON	-	-	-	-	KRI1	uc002mox.1,p.A27fs|ENST00000361821,p.A27fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mox.1	frameshift insertion	exon1	c.79_80insGG	p.A27fs	GVEWPRRLTWGGASRLCPAVKDRYG	GVEWPRRLTWGGGHPVCVPQ	7.0	4.0	unscreened	-	4287_19:10676487-10676487 ->CC_GVEWPRRLTWGGGHPVCVPQ
22:46326985-46326985 C>A	0.0	4287	COLON	-	-	-	-	WNT7B	ENST00000410058,p.G188V	protein_coding	ENST00000410058	nonsynonymous SNV	exon3	c.G563T	p.G188V	ARRLMNLHNNEAGRKGLLGQPRVTS	ARRLMNLHNNEAVRKGLLGQPRVTS	1.0	9.0	-	-	4287_22:46326985-46326985 C>A_ARRLMNLHNNEAVRKGLLGQPRVTS
17:8135237-8135237 T>C	1.0	4287	COLON	-	-	-	-	CTC1	uc002gkq.4,p.D790G|ENST00000315684,p.D790G|NM_025099,p.D790G|ENST00000449476,p.D755G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gkq.4	nonsynonymous SNV	exon13	c.A2369G	p.D790G	GTGWGLPEPQGNDDNDQKVHLIFFG	GTGWGLPEPQGNGDNDQKVHLIFFG	7.0	2.0	unscreened	-	4287_17:8135237-8135237 T>C_GTGWGLPEPQGNGDNDQKVHLIFFG
6:42930814-42930814 C>G	0.0	4287	COLON	-	-	-	-	GNMT	NM_018960,p.D152E|uc003otd.3,p.D152E|ENST00000372808,p.D152E	protein_coding	uc003otd.3	nonsynonymous SNV	exon4	c.C456G	p.D152E	GNSFAHLPDCKGDQSEHRLALKNIA	GNSFAHLPDCKGEQSEHRLALKNIA	4.0	6.0	unscreened	-	4287_6:42930814-42930814 C>G_GNSFAHLPDCKGEQSEHRLALKNIA
15:68650911-68650911 T>A	0.0	4287	COLON	-	-	-	-	ITGA11	ENST00000423218,p.Y162F|NM_001004439,p.Y162F|uc010bib.3,p.Y162F|ENST00000315757,p.Y162F|uc002ari.3,p.Y162F	retained_intron, protein_coding, processed_transcript	uc010bib.3	nonsynonymous SNV	exon6	c.A485T	p.Y162F	KTVAPALQRCQTYMDIVIVLDGSNS	KTVAPALQRCQTFMDIVIVLDGSNS	5.0	5.0	unscreened	-	4287_15:68650911-68650911 T>A_KTVAPALQRCQTFMDIVIVLDGSNS
6:117245937-117245937 A>C	0.0	4287	COLON	-	-	-	-	RFX6	ENST00000332958,p.K554T|uc003pxm.3,p.K554T|NM_173560,p.K554T	retained_intron, protein_coding, processed_transcript	uc003pxm.3	nonsynonymous SNV	exon15	c.A1661C	p.K554T	NDKEQELQNLLDKYMKNSDASKAAF	NDKEQELQNLLDTYMKNSDASKAAF	1.0	2.0	unscreened	-	4287_6:117245937-117245937 A>C_NDKEQELQNLLDTYMKNSDASKAAF
12:6804809-6804809 C>T	0.0	4287	COLON	-	-	-	-	PIANP	ENST00000540656,p.R205H|NM_153685,p.R205H|uc021quc.1,p.R205H|ENST00000534837,p.R205H|uc001qqf.2,p.R205H|ENST00000320591,p.R205H|NM_001244014,p.R205H|uc001qqg.2,p.R205H|NM_001244015,p.R205H	protein_coding	uc021quc.1	nonsynonymous SNV	exon5	c.G614A	p.R205H	VATGIIFKFCWDRSQKRRRPSGQQG	VATGIIFKFCWDHSQKRRRPSGQQG	1.0	9.0	-	-	4287_12:6804809-6804809 C>T_VATGIIFKFCWDHSQKRRRPSGQQG
2:17998189-17998189 T>A	0.0	4287	COLON	-	-	-	-	MSGN1	uc010yjt.2,p.L135H|ENST00000281047,p.L135H|NM_001105569,p.L135H	protein_coding	uc010yjt.2	nonsynonymous SNV	exon1	c.T404A	p.L135H	VQRRRKASEREKLRMRTLADALHTL	VQRRRKASEREKHRMRTLADALHTL	1.0	4.0	unscreened	-	4287_2:17998189-17998189 T>A_VQRRRKASEREKHRMRTLADALHTL
19:56005094-56005094 G>A	0.0	4287	COLON	-	-	-	-	SSC5D	uc002qlg.4,p.R343Q|NM_001195267,p.R343Q|ENST00000587166,p.R343Q|NM_001144950,p.R343Q|uc021vbw.1,p.R343Q|ENST00000389623,p.R343Q	retained_intron, protein_coding	uc021vbw.1	nonsynonymous SNV	exon7	c.G1028A	p.R343Q	DAWDLRDAAVACRELGCGGALAAPG	DAWDLRDAAVACQELGCGGALAAPG	5.0	7.0	unscreened	-	4287_19:56005094-56005094 G>A_DAWDLRDAAVACQELGCGGALAAPG
22:17264837-17264837 T>G	0.0	4287	COLON	-	-	-	-	XKR3	uc002zlv.3,p.Q351P|NM_175878,p.Q351P|uc011agf.2,p.Q351P|ENST00000331428,p.Q351P	protein_coding	uc011agf.2	nonsynonymous SNV	exon4	c.A1052C	p.Q351P	QRWGHRILHYSFQFLENVIMILVFR	QRWGHRILHYSFPFLENVIMILVFR	1.0	4.0	unscreened	-	4287_22:17264837-17264837 T>G_QRWGHRILHYSFPFLENVIMILVFR
17:39254142-39254142 ->CAGCAGCTGGAGATGCAGCATCTGGGGCGG	0.0	4287	COLON	-	-	-	-	KRTAP4-8	ENST00000333822,p.C65delinsCRPRCCISSCC|NM_031960,p.C65delinsCRPRCCISSCC|uc010wfo.2,p.C65delinsCRPRCCISSCC	protein_coding	uc010wfo.2	nonframeshift insertion	exon1	c.194_195insCCGCCCCAGATGCTGCATCTCCAGCTGCTG	p.C65delinsCRPRCCISSCC	QCCQSVCCQPTCCRPSCCVSSCCKP	QCCQSVCCQPTCCRPRCCISSCCRP	1.0	3.0	unscreened	-	4287_17:39254142-39254142 ->CAGCAGCTGGAGATGCAGCATCTGGGGCGG_QCCQSVCCQPTCCRPRCCISSCCRP
2:179398050-179398050 G>A	0.0	4287	COLON	0.0009	-	-	-	TTN	ENST00000359218,p.T25491M|NM_133378,p.T31863M|uc031rqc.1,p.T34431M|NM_003319,p.T25366M|uc021vsy.2,p.T31863M|uc021vsz.2,p.T25558M|uc021vta.2,p.T25491M|NM_133437,p.T25558M|NM_001267550,p.T34431M|ENST00000460472,p.T25366M|ENST00000342992,p.T31863M|NM_001256850,p.T32790M|NM_133432,p.T25491M|uc021vtb.2,p.T25366M|uc031rqd.1,p.T32790M|ENST00000342175,p.T25558M	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon308	c.C98369T	p.T32790M	YALHIRDTLPEDTGYYRVTATNTAG	YALHIRDTLPEDMGYYRVTATNTAG	4.0	6.0	unscreened	-	4287_2:179398050-179398050 G>A_YALHIRDTLPEDMGYYRVTATNTAG
17:48273536-48273536 T>A	0.0	4287	COLON	-	-	-	1	COL1A1	ENST00000225964,p.T328S|uc002iqm.3,p.T328S|NM_000088,p.T328S	retained_intron, protein_coding	uc002iqm.3	nonsynonymous SNV	exon15	c.A982T	p.T328S	PGPAGARGNDGATGAAGPPGPTGPA	PGPAGARGNDGASGAAGPPGPTGPA	10.0	8.0	-	-	4287_17:48273536-48273536 T>A_PGPAGARGNDGASGAAGPPGPTGPA
19:36157731-36157731 C>A	0.0	4287	COLON	-	-	-	-	UPK1A	uc002oaw.3,p.A6E|NM_001281443,p.A6E|uc010eeh.3,p.A6E|NM_007000,p.A6E|ENST00000222275,p.A6E|ENST00000379013,p.A6E	protein_coding	uc010eeh.3	nonsynonymous SNV	exon1	c.C17A	p.A6E	MASAAAAEAEKGSPVVVG	MASAAEAEAEKGSPVVVG	1.0	8.0	-	-	4287_19:36157731-36157731 C>A_MASAAEAEAEKGSPVVVG
16:1717988-1717988 A>C	0.0	4287	COLON	-	-	-	-	CRAMP1L	ENST00000397412,p.E1043A|uc010uvh.2,p.E1043A|ENST00000436138,p.E1040A|ENST00000293925,p.E1043A|ENST00000262317,p.E421A|NM_020825,p.E1043A	retained_intron, protein_coding	uc010uvh.2	nonsynonymous SNV	exon17	c.A3128C	p.E1043A	DSFQGSSVLSLSELPKAPLQNGLSI	DSFQGSSVLSLSALPKAPLQNGLSI	6.0	3.0	unscreened	-	4287_16:1717988-1717988 A>C_DSFQGSSVLSLSALPKAPLQNGLSI
17:79206240-79206240 T>C	0.0	4287	COLON	-	-	-	-	ENTHD2	uc002jzt.2,p.E50G|ENST00000374769,p.E50G|uc002jzs.2,p.E50G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002jzt.2	nonsynonymous SNV	exon8	c.A149G	p.E50G	AEVVASAMRPGPESPSTRRLLPRGD	AEVVASAMRPGPGSPSTRRLLPRGD	6.0	2.0	unscreened	-	4287_17:79206240-79206240 T>C_AEVVASAMRPGPGSPSTRRLLPRGD
10:46967469-46967469 C>T	1.0	4287	COLON	-	-	ID=COSM1347897,COSM1347898,COSM1347896;OCCURENCE=1(large_intestine)	-	SYT15	ENST00000512997,p.R87H|uc001jdz.2,p.R203H|ENST00000374325,p.R203H|ENST00000374321,p.R203H|uc001jea.3,p.R203H|uc001jeb.3,p.R81H|NM_181519,p.R203H|ENST00000503753,p.R203H|NM_031912,p.R203H|ENST00000374323,p.R256H	protein_coding, processed_transcript	uc001jeb.3	nonsynonymous SNV	exon3	c.G242A	p.R81H	PDERRFLQSKTKRKTSNPQFDEHFI	PDERRFLQSKTKHKTSNPQFDEHFI	4.0	9.0	-	-	4287_10:46967469-46967469 C>T_PDERRFLQSKTKHKTSNPQFDEHFI
19:50978733-50978733 T>C	1.0	4287	COLON	-	-	-	-	FAM71E1	ENST00000600100,p.T130A|uc002psh.3,p.T130A	retained_intron, protein_coding, nonsense_mediated_decay, non_stop_decay	uc002psh.3	nonsynonymous SNV	exon3	c.A388G	p.T130A	FVQFCPDIYPAPTSDLWPQVTRLGE	FVQFCPDIYPAPASDLWPQVTRLGE	5.0	7.0	unscreened	-	4287_19:50978733-50978733 T>C_FVQFCPDIYPAPASDLWPQVTRLGE
13:110435307-110435307 G>A	0.0	4287	COLON	-	-	-	-	IRS2	uc001vqv.3,p.P1032S|NM_003749,p.P1032S|ENST00000375856,p.P1032S	protein_coding	uc001vqv.3	nonsynonymous SNV	exon1	c.C3094T	p.P1032S	RPSASPSSSLQPPPPPPAPGELYRL	RPSASPSSSLQPSPPPPAPGELYRL	6.0	7.0	unscreened	-	4287_13:110435307-110435307 G>A_RPSASPSSSLQPSPPPPAPGELYRL
1:196971768-196971768 G>A	0.0	4287	COLON	-	-	-	-	CFHR5	ENST00000256785,p.R435Q|ENST00000367414,p.R459Q|NM_030787,p.R435Q|uc001gts.4,p.R435Q	protein_coding	uc001gts.4	nonsynonymous SNV	exon8	c.G1304A	p.R435Q	LPEAKEIVCKDGRWQSLPRCVESTA	LPEAKEIVCKDGQWQSLPRCVESTA	1.0	2.0	unscreened	-	4287_1:196971768-196971768 G>A_LPEAKEIVCKDGQWQSLPRCVESTA
X:140967216-140967216 A>T	0.0	4287	COLON	-	-	-	-	MAGEC3	NM_138702,p.S172C|ENST00000298296,p.S172C|uc011mwp.2,p.S172C	protein_coding, processed_transcript	uc011mwp.2	nonsynonymous SNV	exon3	c.A514T	p.S172C	SPGKRLWGEKAGSLPESEPLFTYTL	SPGKRLWGEKAGCLPESEPLFTYTL	1.0	3.0	unscreened	-	4287_X:140967216-140967216 A>T_SPGKRLWGEKAGCLPESEPLFTYTL
5:167946188-167946188 G>A	1.0	4287	COLON	-	-	-	-	RARS	ENST00000231572,p.R659K|ENST00000538719,p.R453K|uc003lzx.3,p.R659K|NM_002887,p.R659K|uc011deo.2,p.R453K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011deo.2	nonsynonymous SNV	exon14	c.G1358A	p.R453K	KGFDILGIKPVQRM	KGFDILGIKPVQKM	10.0	8.0	-	-	4287_5:167946188-167946188 G>A_KGFDILGIKPVQKM
3:113675190-113675190 A>C	1.0	4287	COLON	-	-	-	-	ZDHHC23	ENST00000498275,p.N287H|ENST00000478793,p.N293H|NM_173570,p.N293H|ENST00000330212,p.N293H|uc003eau.3,p.N293H|uc003eav.3,p.N287H	protein_coding, processed_transcript, nonsense_mediated_decay	uc003eav.3	nonsynonymous SNV	exon5	c.A859C	p.N287H	CVRRMDHHCVWINSCVGESNHQAFI	CVRRMDHHCVWIHSCVGESNHQAFI	6.0	4.0	unscreened	-	4287_3:113675190-113675190 A>C_CVRRMDHHCVWIHSCVGESNHQAFI
5:13868013-13868013 T>G	0.0	4287	COLON	-	-	-	-	DNAH5	uc003jfd.2,p.K1308T|ENST00000265104,p.K1308T|NM_001369,p.K1308T	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon25	c.A3923C	p.K1308T	IDKVDTLHYAWEKLLARAGEVQNKL	IDKVDTLHYAWETLLARAGEVQNKL	4.0	5.0	unscreened	-	4287_5:13868013-13868013 T>G_IDKVDTLHYAWETLLARAGEVQNKL
19:31039546-31039546 C>A	0.0	4287	COLON	-	-	-	-	ZNF536	ENST00000355537,p.A1007D|uc002nsu.1,p.A1007D|uc010edd.1,p.A1007D|NM_014717,p.A1007D	protein_coding, processed_transcript	uc010edd.1	nonsynonymous SNV	exon4	c.C3020A	p.A1007D	QDSIAWHGCLFCAFTTSSMELMALH	QDSIAWHGCLFCDFTTSSMELMALH	1.0	2.0	unscreened	-	4287_19:31039546-31039546 C>A_QDSIAWHGCLFCDFTTSSMELMALH
X:138699793-138699793 A>T	0.0	4287	COLON	-	-	-	-	MCF2	uc011mwn.1,p.L438H|ENST00000338585,p.L293H|NM_001171878,p.L293H|uc010nsh.2,p.L293H|ENST00000536274,p.L254H|uc011mwm.2,p.L254H|uc011mwo.1,p.L353H|uc004fav.3,p.L293H|uc004faw.2,p.L353H|NM_005369,p.L293H|ENST00000520602,p.L353H|uc011mwl.2,p.L254H|uc004fau.3,p.L293H|ENST00000414978,p.L353H|ENST00000519895,p.L353H|ENST00000370576,p.L293H|NM_001171879,p.L293H|NM_001099855,p.L353H|ENST00000370573,p.L293H|ENST00000370578,p.L438H|NM_001171877,p.L254H|NM_001171876,p.L353H	protein_coding, processed_transcript	uc011mwo.1	nonsynonymous SNV	exon11	c.T1058A	p.L353H	HGHKLAANHHYALDLICQRCNELRY	HGHKLAANHHYAHDLICQRCNELRY	2.0	7.0	unscreened	-	4287_X:138699793-138699793 A>T_HGHKLAANHHYAHDLICQRCNELRY
2:113532748-113532748 C>A	0.0	4287	COLON	-	-	-	-	IL1A	uc002tig.3,p.A238S|NM_000575,p.A238S|ENST00000263339,p.A238S	protein_coding	uc002tig.3	nonsynonymous SNV	exon7	c.G712T	p.A238S	ETHGTKNYFTSVAHPNLFIATKQDY	ETHGTKNYFTSVSHPNLFIATKQDY	3.0	4.0	unscreened	-	4287_2:113532748-113532748 C>A_ETHGTKNYFTSVSHPNLFIATKQDY
13:108863522-108863522 C>T	1.0	4287	COLON	-	-	-	-	LIG4	ENST00000442234,p.R32H|NM_206937,p.R32H|ENST00000405925,p.R32H|uc001vqn.3,p.R32H|uc021rmk.1,p.R32H|NM_001098268,p.R32H|NM_002312,p.R32H|uc010agf.3,p.R32H|ENST00000356922,p.R32H|uc001vqp.3,p.R32H|uc001vqo.3,p.R32H	protein_coding	uc021rmk.1	nonsynonymous SNV	exon1	c.G95A	p.R32H	CSTLERIQKSKGRAEKIRHFREFLD	CSTLERIQKSKGHAEKIRHFREFLD	7.0	6.0	-	-	4287_13:108863522-108863522 C>T_CSTLERIQKSKGHAEKIRHFREFLD
1:201179929-201179929 A>G	0.0	4287	COLON	-	-	-	-	IGFN1	NM_001164586,p.K1970E|uc001gwc.3,p.K1970E|ENST00000335211,p.K1970E	retained_intron, protein_coding, nonsense_mediated_decay	uc001gwc.3	nonsynonymous SNV	exon12	c.A5908G	p.K1970E	NKAGYRKDLGAPKGMGSGSKEGFRD	NKAGYRKDLGAPEGMGSGSKEGFRD	3.0	8.0	unscreened	-	4287_1:201179929-201179929 A>G_NKAGYRKDLGAPEGMGSGSKEGFRD
13:61987147-61987147 T>G	0.0	4287	COLON	-	-	-	-	PCDH20	NM_022843,p.K362T|ENST00000409186,p.K362T|uc010thj.2,p.K362T|ENST00000409204,p.K362T|uc001vid.4,p.K362T	protein_coding, processed_transcript	uc010thj.2	nonsynonymous SNV	exon5	c.A1085C	p.K362T	GTNAQITYSYSQKVPQASKDLFHLD	GTNAQITYSYSQTVPQASKDLFHLD	3.0	8.0	-	-	4287_13:61987147-61987147 T>G_GTNAQITYSYSQTVPQASKDLFHLD
13:23912473-23912473 C>A	1.0	4287	COLON	-	-	-	-	SACS	NM_014363,p.A1848S|ENST00000382298,p.A1848S|ENST00000382292,p.A1848S|uc001uoo.3,p.A1701S|uc001uon.3,p.A1848S|ENST00000402364,p.A1098S|NM_001278055,p.A1701S	protein_coding, processed_transcript	uc001uoo.3	nonsynonymous SNV	exon8	c.G5101T	p.A1701S	ESGRRLGLVPCGAVGVQLSEIQDQK	ESGRRLGLVPCGSVGVQLSEIQDQK	5.0	8.0	-	-	4287_13:23912473-23912473 C>A_ESGRRLGLVPCGSVGVQLSEIQDQK
17:74290090-74290090 G>T	0.0	4287	COLON	-	-	-	-	QRICH2	NM_032134,p.L74I|uc002jrd.1,p.L74I|ENST00000262765,p.L74I	protein_coding, nonsense_mediated_decay	uc002jrd.1	nonsynonymous SNV	exon4	c.C220A	p.L74I	DGWRASQAGSETLMGFSKHGGFTSL	DGWRASQAGSETIMGFSKHGGFTSL	4.0	2.0	unscreened	-	4287_17:74290090-74290090 G>T_DGWRASQAGSETIMGFSKHGGFTSL
X:34149093-34149093 C>A	0.0	4287	COLON	-	-	-	-	FAM47A	NM_203408,p.G435W|ENST00000346193,p.G435W|uc004ddg.3,p.G435W	protein_coding	uc004ddg.3	nonsynonymous SNV	exon1	c.G1303T	p.G435W	NLLLYILKVLDSGRTLKDVWDRCEA	NLLLYILKVLDSWRTLKDVWDRCEA	1.0	8.0	-	-	4287_X:34149093-34149093 C>A_NLLLYILKVLDSWRTLKDVWDRCEA
8:41551469-41551469 C>T	0.0	4287	COLON	-	-	-	2	ANK1	uc003xoh.3,p.R476K|NM_020475,p.R1160K|ENST00000396942,p.R1160K|NM_020476,p.R1160K|NM_001142446,p.R1201K|ENST00000265709,p.R1201K|NM_000037,p.R1160K|uc003xol.3,p.R1160K|ENST00000352337,p.R1160K|uc003xoj.3,p.R1160K|ENST00000347528,p.R1160K|uc003xoi.3,p.R1160K|uc003xok.3,p.R1160K|ENST00000289734,p.R1160K|ENST00000379758,p.R1160K|ENST00000396945,p.R1160K|NM_020477,p.R1160K|uc003xom.3,p.R1201K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xom.3	nonsynonymous SNV	exon30	c.G3602A	p.R1201K	RIPLPPSWTDNPRDSGEGDTTSLRL	RIPLPPSWTDNPKDSGEGDTTSLRL	3.0	8.0	-	-	4287_8:41551469-41551469 C>T_RIPLPPSWTDNPKDSGEGDTTSLRL
1:245133579-245133579 G>C	0.0	4287	COLON	-	-	-	-	LOC101928068	uc001ibd.2,p.R52P|ENST00000366522,p.R52P	 protein_coding,retained_intron, processed_transcript	uc001ibd.2	nonsynonymous SNV	exon1	c.G155C	p.R52P	GTGRALGASSPPRPAQGSSSPGIQS	GTGRALGASSPPPPAQGSSSPGIQS	6.0	3.0	unscreened	-	4287_1:245133579-245133579 G>C_GTGRALGASSPPPPAQGSSSPGIQS
17:18049218-18049218 T>A	1.0	4287	COLON	-	-	-	-	MYO15A	ENST00000205890,p.H2102Q|NM_016239,p.H2102Q|uc021trm.1,p.H2102Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021trm.1	nonsynonymous SNV	exon29	c.T6306A	p.H2102Q	KLILRFMGDPHLHGARENIFGNYIV	KLILRFMGDPHLQGARENIFGNYIV	5.0	7.0	unscreened	-	4287_17:18049218-18049218 T>A_KLILRFMGDPHLQGARENIFGNYIV
6:73935117-73935117 C>A	0.0	4287	COLON	-	-	-	-	KHDC1L	ENST00000423730,p.R108L	protein_coding, processed_transcript,nonsense_mediated_decay	ENST00000423730	nonsynonymous SNV	exon4	c.G323T	p.R108L	HARGGSTAWPWERVLSARSRGGPCP	HARGGSTAWPWELVLSARSRGGPCP	1.0	5.0	unscreened	-	4287_6:73935117-73935117 C>A_HARGGSTAWPWELVLSARSRGGPCP
5:54415729-54415729 C>A	0.0	4287	COLON	-	-	-	-	CDC20B	ENST00000381375,p.W453C|NM_152623,p.W453C|uc003jpo.2,p.W453C|ENST00000296733,p.W453C|uc003jpn.2,p.W453C|NM_001170402,p.W453C	protein_coding, nonsense_mediated_decay	uc003jpo.2	nonsynonymous SNV	exon11	c.G1359T	p.W453C	TPSTNSQICSLIWLPKTKEIATGQG	TPSTNSQICSLICLPKTKEIATGQG	1.0	3.0	unscreened	-	4287_5:54415729-54415729 C>A_TPSTNSQICSLICLPKTKEIATGQG
19:36340178-36340178 G>C	0.0	4287	COLON	-	-	-	-	NPHS1	ENST00000353632,p.A267G|ENST00000378910,p.A267G|uc002oby.3,p.A267G|NM_004646,p.A267G	retained_intron, protein_coding	uc002oby.3	nonsynonymous SNV	exon7	c.C800G	p.A267G	VRAGQSLELPCVARGGNPLATLQWL	VRAGQSLELPCVGRGGNPLATLQWL	3.0	8.0	-	-	4287_19:36340178-36340178 G>C_VRAGQSLELPCVGRGGNPLATLQWL
8:142480827-142480827 T>-	0.0	4287	COLON	-	-	-	-	MROH5	uc003ywi.2,p.K681fs	protein_coding, polymorphic_pseudogene, nonsense_mediated_decay	uc003ywi.2	frameshift deletion	exon17	c.2042delA	p.K681fs	TGEALQAESQAPKELSQAHSDGAPL	TGEALQAESQAPRSSPRPIRTEPHSGTAETRRPLPWAPRRWQRTTSSSSAASKSSRISCSSSHWQS	1.0	4.0	unscreened	-	4287_8:142480827-142480827 T>-_TGEALQAESQAPRSSPRPIRTEPHSGTAETRRPLPWAPRRWQRTTSSSSAASKSSRISCSSSHWQS
13:100425173-100425173 G>A	1.0	4287	COLON	-	-	-	-	CLYBL	NM_206808,p.G53E|ENST00000376355,p.G53E|ENST00000339105,p.G53E|ENST00000444838,p.G53E|uc001vok.3,p.G53E|uc010tiy.2,p.G53E|uc010tix.2,p.G53E|ENST00000376360,p.G53E|ENST00000376354,p.G53E	protein_coding	uc010tiy.2	nonsynonymous SNV	exon2	c.G158A	p.G53E	KYIPRRAVLYVPGNDEKKIKKIPSL	KYIPRRAVLYVPENDEKKIKKIPSL	9.0	2.0	unscreened	-	4287_13:100425173-100425173 G>A_KYIPRRAVLYVPENDEKKIKKIPSL
17:48684261-48684261 G>A	0.0	4287	COLON	-	-	-	-	CACNA1G	uc002isa.2,p.A1475T|uc002iry.2,p.A1475T|uc002iro.2,p.A1452T|ENST00000511765,p.A1475T|ENST00000352832,p.A1452T|NM_001256334,p.A1475T|NM_001256361,p.A1475T|ENST00000510115,p.A1452T|uc002isb.2,p.A1475T|uc002irn.2,p.A1452T|ENST00000505165,p.A1475T|uc002irs.2,p.A1475T|ENST00000514717,p.A1452T|NM_198382,p.A1452T|NM_198396,p.A1452T|NM_001256329,p.A1475T|NM_198385,p.A1475T|NM_198387,p.A1452T|ENST00000507609,p.A1475T|ENST00000515165,p.A1475T|ENST00000513689,p.A1475T|uc002irv.2,p.A1475T|NM_198386,p.A1475T|ENST00000503436,p.A1452T|uc002irz.2,p.A1475T|uc002isd.2,p.A1475T|ENST00000503607,p.A1452T|NM_001256331,p.A1475T|ENST00000504076,p.A1475T|NM_001256332,p.A1452T|ENST00000512389,p.A1475T|NM_198377,p.A1475T|ENST00000506520,p.A290T|uc002irt.2,p.A1475T|ENST00000515765,p.A1475T|NM_001256333,p.A1475T|ENST00000515411,p.A1475T|NM_198383,p.A1452T|ENST00000503485,p.A1475T|ENST00000507896,p.A1475T|NM_001256326,p.A1475T|NM_001256325,p.A1475T|ENST00000506406,p.A1475T|uc002irk.2,p.A1475T|NM_198379,p.A1452T|uc002isi.2,p.A1452T|ENST00000359106,p.A1475T|NM_198378,p.A1475T|ENST00000514079,p.A1475T|uc002isg.2,p.A1475T|NM_001256359,p.A1475T|NM_018896,p.A1475T|ENST00000513964,p.A1475T|uc002irr.2,p.A1475T|uc002ish.2,p.A1475T|NM_001256324,p.A1475T|NM_198388,p.A1452T|NM_198376,p.A1452T|ENST00000429973,p.A1475T|ENST00000358244,p.A1452T|ENST00000514181,p.A1475T|NM_001256360,p.A1475T|ENST00000510366,p.A1475T|uc002isf.2,p.A1475T|ENST00000360761,p.A1452T|ENST00000507336,p.A1475T|uc002irm.2,p.A1452T|uc002irj.2,p.A1452T|uc002isc.2,p.A1475T|uc002irp.2,p.A1475T|uc002irl.2,p.A1452T|ENST00000354983,p.A1452T|ENST00000507510,p.A1475T|NM_001256327,p.A1475T|NM_001256330,p.A1475T|ENST00000442258,p.A1452T|uc002irx.2,p.A1475T|ENST00000502264,p.A1452T|NM_198384,p.A1475T|uc002iru.2,p.A1452T|uc002isj.3,p.A199T|NM_198380,p.A1475T|uc002ise.2,p.A1475T|uc002irw.2,p.A1452T|ENST00000511768,p.A1452T|NM_001256328,p.A1475T	protein_coding, nonsense_mediated_decay	uc002isj.3	nonsynonymous SNV	exon8	c.G595A	p.A199T	VRHKYNFDNLGQALMSLFVLASKDG	VRHKYNFDNLGQTLMSLFVLASKDG	1.0	5.0	unscreened	-	4287_17:48684261-48684261 G>A_VRHKYNFDNLGQTLMSLFVLASKDG
16:22128180-22128180 A>G	0.0	4287	COLON	-	-	-	-	VWA3A	ENST00000568328,p.M306V|uc010vbq.2,p.M306V|ENST00000389398,p.M306V|uc010bxc.2,p.M293V|NM_173615,p.M306V	retained_intron, protein_coding, nonsense_mediated_decay	uc010vbq.2	nonsynonymous SNV	exon10	c.A916G	p.M306V	IIHFITYRCDDQMPPAVLKNLAEAV	IIHFITYRCDDQVPPAVLKNLAEAV	4.0	4.0	unscreened	-	4287_16:22128180-22128180 A>G_IIHFITYRCDDQVPPAVLKNLAEAV
1:207224286-207224286 T>G	1.0	4287	COLON	-	-	-	-	YOD1	NM_018566,p.K30N|uc001hfe.1,p.K30N|ENST00000315927,p.K30N	protein_coding	uc001hfe.1	nonsynonymous SNV	exon1	c.A90C	p.K30N	FPGGVSQQAAGTKAGPAGAWPVGSR	FPGGVSQQAAGTNAGPAGAWPVGSR	5.0	8.0	unscreened	-	4287_1:207224286-207224286 T>G_FPGGVSQQAAGTNAGPAGAWPVGSR
6:118229008-118229008 T>A	0.0	4287	COLON	-	-	-	-	SLC35F1	uc003pxx.4,p.L40Q|NM_001029858,p.L40Q|ENST00000360388,p.L40Q	protein_coding	uc003pxx.4	nonsynonymous SNV	exon1	c.T119A	p.L40Q	NLPAEGSGGGGSLSASSRAGVRQRI	NLPAEGSGGGGSQSASSRAGVRQRI	1.0	8.0	unscreened	-	4287_6:118229008-118229008 T>A_NLPAEGSGGGGSQSASSRAGVRQRI
7:21639546-21639546 C>A	0.0	4287	COLON	-	-	-	-	DNAH11	uc031swp.1,p.Q937K|NM_001277115,p.Q937K|ENST00000409508,p.Q937K|ENST00000328843,p.Q937K	retained_intron, protein_coding, processed_transcript	uc031swp.1	nonsynonymous SNV	exon15	c.C2809A	p.Q937K	HDLDFFLKNTEKQLKPAPFFQAQMI	HDLDFFLKNTEKKLKPAPFFQAQMI	3.0	8.0	-	-	4287_7:21639546-21639546 C>A_HDLDFFLKNTEKKLKPAPFFQAQMI
1:151681722-151681722 A>T	1.0	4287	COLON	-	-	-	-	CELF3	uc021oyt.1,p.L80H|NM_001172648,p.L80H|uc009wmx.2,p.L127H|ENST00000290585,p.L127H|NM_001291106,p.L127H|ENST00000290583,p.L127H|NM_001172649,p.L127H|uc001eyr.3,p.L126H|uc001eys.2,p.L127H|uc001eyt.2,p.L50H|uc010pdi.1,p.L127H|uc009wmy.3,p.L127H|NM_001291107,p.L126H|NM_007185,p.L127H	retained_intron, protein_coding, processed_transcript	uc021oyt.1	nonsynonymous SNV	exon4	c.T239A	p.L80H	FEPFGTIDECTVLRGPDGTSKGCAF	FEPFGTIDECTVHRGPDGTSKGCAF	5.0	8.0	unscreened	-	4287_1:151681722-151681722 A>T_FEPFGTIDECTVHRGPDGTSKGCAF
6:118229007-118229007 C>A	0.0	4287	COLON	-	-	-	-	SLC35F1	NM_001029858,p.L40M|uc003pxx.4,p.L40M|ENST00000360388,p.L40M	protein_coding	uc003pxx.4	nonsynonymous SNV	exon1	c.C118A	p.L40M	NLPAEGSGGGGSLSASSRAGVRQRI	NLPAEGSGGGGSMSASSRAGVRQRI	1.0	8.0	unscreened	-	4287_6:118229007-118229007 C>A_NLPAEGSGGGGSMSASSRAGVRQRI
X:49143014-49143014 C>A	0.0	4287	COLON	-	-	-	-	PPP1R3F	uc004dni.3,p.A275E|uc004dnj.2,p.A275E|ENST00000438316,p.A292E|uc004dnh.2,p.A621E|ENST00000055335,p.A621E|ENST00000495799,p.A275E|NM_001184745,p.A275E|NM_033215,p.A621E|ENST00000376188,p.A275E|uc011mnd.2,p.A292E|ENST00000466508,p.A275E	protein_coding	uc011mnd.2	nonsynonymous SNV	exon5	c.C875A	p.A292E	VVATMGDVWLPWAEGSGCDGPVVLG	VVATMGDVWLPWEEGSGCDGPVVLG	4.0	7.0	-	-	4287_X:49143014-49143014 C>A_VVATMGDVWLPWEEGSGCDGPVVLG
1:1560732-1560732 T>C	1.0	4287	COLON	-	-	-	-	MIB2	NM_001170686,p.V378A|uc001agh.3,p.V364A|ENST00000355826,p.V364A|NM_001170688,p.V313A|uc001agl.2,p.V277A|ENST00000360522,p.V321A|ENST00000504599,p.V277A|uc001agk.3,p.V313A|ENST00000378712,p.V198A|NM_080875,p.V378A|ENST00000487053,p.V277A|ENST00000357210,p.V321A|ENST00000505820,p.V378A|uc001agi.3,p.V378A|ENST00000378710,p.V321A|ENST00000518681,p.V313A|ENST00000520777,p.V378A|uc001agm.3,p.V198A|uc001agj.3,p.V162A|NM_001170687,p.V364A|NM_001170689,p.V198A|ENST00000378708,p.V263A|uc001agg.3,p.V378A|ENST00000506488,p.V263A|uc009vkh.3,p.V162A|uc010nyq.2,p.V277A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010nyq.2	nonsynonymous SNV	exon6	c.T830C	p.V277A	SADSQPFQHGDKVKCLLDTDVLREM	SADSQPFQHGDKAKCLLDTDVLREM	7.0	7.0	unscreened	-	4287_1:1560732-1560732 T>C_SADSQPFQHGDKAKCLLDTDVLREM
19:8320525-8320525 T>C	1.0	4287	COLON	-	-	-	-	CERS4	uc010dvz.3,p.L109P|ENST00000559336,p.L109P|ENST00000561053,p.L109P|uc002mjg.3,p.L109P|ENST00000251363,p.L109P|ENST00000558877,p.L109P|NM_024552,p.L109P|ENST00000559450,p.L109P|ENST00000558331,p.L58P	retained_intron, protein_coding, processed_transcript	uc010dvz.3	nonsynonymous SNV	exon5	c.T326C	p.L109P	EPQLSLLAAQCGLTLQQTQRWFRRR	EPQLSLLAAQCGPTLQQTQRWFRRR	6.0	7.0	unscreened	-	4287_19:8320525-8320525 T>C_EPQLSLLAAQCGPTLQQTQRWFRRR
17:39240627-39240627 T>C	0.0	4287	COLON	-	-	-	-	KRTAP4-7	NM_033061,p.S57P|ENST00000391417,p.S57P|uc010wfn.2,p.S57P	protein_coding	uc010wfn.2	nonsynonymous SNV	exon1	c.T169C	p.S57P	CVSSCCRPQCCQSVCCQPTCCRPTC	CVSSCCRPQCCQPVCCQPTCCRPTC	1.0	3.0	unscreened	-	4287_17:39240627-39240627 T>C_CVSSCCRPQCCQPVCCQPTCCRPTC
5:54415729-54415729 C>A	0.0	4287	COLON	-	-	-	-	CDC20B	ENST00000322374,p.W411C|uc010ivu.2,p.W411C|NM_001145734,p.W411C	protein_coding, nonsense_mediated_decay	uc010ivu.2	nonsynonymous SNV	exon10	c.G1233T	p.W411C	TQSTAVKICSLIWLPKTKEIATGQG	TQSTAVKICSLICLPKTKEIATGQG	1.0	3.0	unscreened	-	4287_5:54415729-54415729 C>A_TQSTAVKICSLICLPKTKEIATGQG
14:23885335-23885335 C>A	0.0	4287	COLON	-	-	-	-	MYH7	NM_000257,p.A1611S|uc001wjx.3,p.A1611S|ENST00000355349,p.A1611S	protein_coding	uc001wjx.3	nonsynonymous SNV	exon34	c.G4831T	p.A1611S	TSLDAETRSRNEALRVKKKMEGDLN	TSLDAETRSRNESLRVKKKMEGDLN	2.0	4.0	unscreened	-	4287_14:23885335-23885335 C>A_TSLDAETRSRNESLRVKKKMEGDLN
12:41966269-41966269 G>A	0.0	4287	COLON	-	-	ID=COSM283949,COSM3460581,COSM283950;OCCURENCE=2(large_intestine),1(endometrium)	-	PDZRN4	uc010skn.2,p.R563Q|ENST00000298919,p.R303Q|uc009zjz.3,p.R303Q|NM_013377,p.R305Q|ENST00000402685,p.R563Q|uc001rmr.3,p.R190Q|ENST00000539469,p.R305Q|NM_001164595,p.R563Q|uc001rmq.4,p.R305Q	retained_intron, protein_coding	uc010skn.2	nonsynonymous SNV	exon10	c.G1688A	p.R563Q	KDSGVGRTDESLRNDESSEQENAAE	KDSGVGRTDESLQNDESSEQENAAE	1.0	8.0	unscreened	-	4287_12:41966269-41966269 G>A_KDSGVGRTDESLQNDESSEQENAAE
5:147024553-147024553 G>A	0.0	4287	COLON	-	-	ID=COSM33186;OCCURENCE=1(endometrium),1(large_intestine)	-	JAKMIP2	ENST00000507386,p.R315C|ENST00000265272,p.R315C|NM_001282282,p.R273C|uc003loq.2,p.R315C|uc010jgo.2,p.R315C|NM_001270941,p.R315C|ENST00000333010,p.R273C|NM_001270934,p.R315C|uc011dbx.2,p.R273C|NM_014790,p.R315C|uc003lor.2,p.R315C	retained_intron, protein_coding	uc011dbx.2	nonsynonymous SNV	exon5	c.C817T	p.R273C	TLLGDERNELLKRVRETEKQCKPLL	TLLGDERNELLKCVRETEKQCKPLL	3.0	7.0	unscreened	-	4287_5:147024553-147024553 G>A_TLLGDERNELLKCVRETEKQCKPLL
3:137786994-137786994 T>A	0.0	4287	COLON	-	-	-	-	DZIP1L	ENST00000327532,p.S611C|NM_173543,p.S611C|uc003erq.3,p.S611C	retained_intron, protein_coding, processed_transcript	uc003erq.3	nonsynonymous SNV	exon13	c.A1831T	p.S611C	PSSTPPSSGPGMSTPPFSSEEDSEG	PSSTPPSSGPGMCTPPFSSEEDSEG	4.0	2.0	unscreened	-	4287_3:137786994-137786994 T>A_PSSTPPSSGPGMCTPPFSSEEDSEG
3:123008738-123008738 C>G	0.0	4287	COLON	-	-	-	-	ADCY5	NM_001199642,p.A781P|uc003egg.2,p.A789P|ENST00000491190,p.A789P|uc003egh.2,p.A1131P|uc021xdd.1,p.A781P|ENST00000462833,p.A1131P|NM_183357,p.A1131P|ENST00000309879,p.A781P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xdd.1	nonsynonymous SNV	exon19	c.G2341C	p.A781P	LEKIKTIGSTYMAASGLNDSTYDKV	LEKIKTIGSTYMPASGLNDSTYDKV	4.0	3.0	unscreened	-	4287_3:123008738-123008738 C>G_LEKIKTIGSTYMPASGLNDSTYDKV
17:48684262-48684262 C>A	0.0	4287	COLON	-	-	-	-	CACNA1G	NM_001256333,p.A1475D|ENST00000360761,p.A1452D|NM_001256324,p.A1475D|ENST00000506406,p.A1475D|NM_001256330,p.A1475D|NM_198387,p.A1452D|ENST00000506520,p.A290D|NM_001256359,p.A1475D|ENST00000429973,p.A1475D|uc002irr.2,p.A1475D|ENST00000503436,p.A1452D|ENST00000514717,p.A1452D|uc002isa.2,p.A1475D|NM_198378,p.A1475D|NM_001256325,p.A1475D|ENST00000502264,p.A1452D|NM_198379,p.A1452D|NM_198396,p.A1452D|ENST00000514181,p.A1475D|NM_198383,p.A1452D|ENST00000515165,p.A1475D|uc002isi.2,p.A1452D|ENST00000510366,p.A1475D|ENST00000507336,p.A1475D|ENST00000504076,p.A1475D|uc002irx.2,p.A1475D|ENST00000515411,p.A1475D|ENST00000503607,p.A1452D|uc002irp.2,p.A1475D|uc002isf.2,p.A1475D|uc002irl.2,p.A1452D|uc002ish.2,p.A1475D|NM_198380,p.A1475D|ENST00000359106,p.A1475D|uc002iru.2,p.A1452D|ENST00000514079,p.A1475D|uc002irs.2,p.A1475D|uc002irt.2,p.A1475D|ENST00000513689,p.A1475D|NM_198376,p.A1452D|uc002irk.2,p.A1475D|NM_198386,p.A1475D|uc002irv.2,p.A1475D|uc002irn.2,p.A1452D|uc002isc.2,p.A1475D|uc002isg.2,p.A1475D|ENST00000507510,p.A1475D|uc002isd.2,p.A1475D|NM_001256334,p.A1475D|uc002iro.2,p.A1452D|ENST00000515765,p.A1475D|NM_001256361,p.A1475D|ENST00000511765,p.A1475D|uc002irz.2,p.A1475D|NM_198388,p.A1452D|ENST00000510115,p.A1452D|uc002isj.3,p.A199D|ENST00000352832,p.A1452D|NM_198385,p.A1475D|uc002irj.2,p.A1452D|uc002irw.2,p.A1452D|NM_001256326,p.A1475D|ENST00000358244,p.A1452D|NM_198377,p.A1475D|ENST00000507609,p.A1475D|NM_001256332,p.A1452D|uc002iry.2,p.A1475D|ENST00000513964,p.A1475D|ENST00000503485,p.A1475D|uc002ise.2,p.A1475D|NM_001256327,p.A1475D|NM_001256331,p.A1475D|NM_001256329,p.A1475D|ENST00000442258,p.A1452D|NM_001256360,p.A1475D|ENST00000505165,p.A1475D|ENST00000507896,p.A1475D|uc002isb.2,p.A1475D|NM_018896,p.A1475D|NM_198382,p.A1452D|ENST00000511768,p.A1452D|NM_001256328,p.A1475D|uc002irm.2,p.A1452D|NM_198384,p.A1475D|ENST00000354983,p.A1452D|ENST00000512389,p.A1475D	protein_coding, nonsense_mediated_decay	uc002isj.3	nonsynonymous SNV	exon8	c.C596A	p.A199D	VRHKYNFDNLGQALMSLFVLASKDG	VRHKYNFDNLGQDLMSLFVLASKDG	1.0	5.0	unscreened	-	4287_17:48684262-48684262 C>A_VRHKYNFDNLGQDLMSLFVLASKDG
8:25337539-25337539 G>A	1.0	4287	COLON	-	-	-	-	CDCA2	ENST00000330560,p.A311T|uc011lae.1,p.A311T|NM_152562,p.A311T|ENST00000380665,p.A296T|uc003xeq.1,p.A296T|uc003xep.1,p.A311T	protein_coding, processed_transcript	uc011lae.1	nonsynonymous SNV	exon8	c.G931A	p.A311T	VSSDAVPDVRSPATPACRRDLPTPK	VSSDAVPDVRSPTTPACRRDLPTPK	6.0	3.0	unscreened	-	4287_8:25337539-25337539 G>A_VSSDAVPDVRSPTTPACRRDLPTPK
22:31486158-31486158 A>G	1.0	4287	COLON	-	-	-	-	SMTN	uc003ajl.2,p.K286R|uc003ajm.2,p.K286R|NM_134270,p.K286R|NM_001207018,p.K342R|ENST00000333137,p.K286R|ENST00000358743,p.K286R|uc011ale.2,p.K340R|NM_134269,p.K286R|uc011alf.2,p.K342R|uc003ajk.2,p.K286R|NM_001207017,p.K340R|NM_006932,p.K286R|ENST00000347557,p.K286R|uc003ajn.2,p.K278R	retained_intron, protein_coding, processed_transcript	uc011alf.2	nonsynonymous SNV	exon7	c.A1025G	p.K342R	AAQSPTRGPSDTKRADVAGPRPCQR	AAQSPTRGPSDTRRADVAGPRPCQR	8.0	7.0	unscreened	-	4287_22:31486158-31486158 A>G_AAQSPTRGPSDTRRADVAGPRPCQR
1:39957673-39957673 C>T	0.0	4287	COLON	-	-	-	-	BMP8A	uc001cdi.3,p.R4C|ENST00000331593,p.R4C|NM_181809,p.R4C	protein_coding	uc001cdi.3	nonsynonymous SNV	exon1	c.C10T	p.R4C	MAARPGPLWLLGLTLC	MAACPGPLWLLGLTLC	4.0	6.0	unscreened	-	4287_1:39957673-39957673 C>T_MAACPGPLWLLGLTLC
19:8808757-8808757 C>T	0.0	4287	COLON	-	-	-	-	ACTL9	uc002mkl.2,p.G99S|ENST00000324436,p.G99S|NM_178525,p.G99S	protein_coding	uc002mkl.2	nonsynonymous SNV	exon1	c.G295A	p.G99S	ATSGQSGLQTFIGEAARVLPELTLV	ATSGQSGLQTFISEAARVLPELTLV	1.0	6.0	unscreened	-	4287_19:8808757-8808757 C>T_ATSGQSGLQTFISEAARVLPELTLV
17:74464871-74464871 C>T	0.0	4287	COLON	-	rs34470791	-	-	AANAT	uc002jro.3,p.R15C|ENST00000587798,p.R15C|NM_001166579,p.R60C|NM_001088,p.R15C|uc021udg.1,p.R60C|ENST00000585649,p.R53C|ENST00000250615,p.R60C|ENST00000392492,p.R15C	protein_coding, nonsense_mediated_decay	uc021udg.1	nonsynonymous SNV	exon5	c.C178T	p.R60C	TQSTHPLKPEAPRLPPGIPESPSCQ	TQSTHPLKPEAPCLPPGIPESPSCQ	1.0	3.0	unscreened	-	4287_17:74464871-74464871 C>T_TQSTHPLKPEAPCLPPGIPESPSCQ
4:119978581-119978581 C>A	0.0	4287	COLON	-	-	-	-	SYNPO2	ENST00000307142,p.P1093H|NM_001286754,p.P1062H|uc010inb.3,p.P1093H|NM_133477,p.P1093H	protein_coding	uc010inb.3	nonsynonymous SNV	exon5	c.C3278A	p.P1093H	VTIQESGRSLSLPGRSVPPPISTSP	VTIQESGRSLSLHGRSVPPPISTSP	4.0	4.0	unscreened	-	4287_4:119978581-119978581 C>A_VTIQESGRSLSLHGRSVPPPISTSP
4:119978581-119978581 C>A	0.0	4287	COLON	-	-	-	-	SYNPO2	uc010inc.3,p.P963H	protein_coding	uc010inc.3	nonsynonymous SNV	exon4	c.C2888A	p.P963H	SVYSESGRSLSLPGRSVPPPISTSP	SVYSESGRSLSLHGRSVPPPISTSP	4.0	4.0	unscreened	-	4287_4:119978581-119978581 C>A_SVYSESGRSLSLHGRSVPPPISTSP
10:50339739-50339739 C>A	0.0	4287	COLON	-	-	-	-	FAM170B	NM_001164484,p.E257D|ENST00000311787,p.E257D|uc001jhj.3,p.E257D	protein_coding	uc001jhj.3	nonsynonymous SNV	exon2	c.G771T	p.E257D	RAQGQAHDQQLEEEQSPSDNSECSR	RAQGQAHDQQLEDEQSPSDNSECSR	1.0	8.0	-	-	4287_10:50339739-50339739 C>A_RAQGQAHDQQLEDEQSPSDNSECSR
19:14698494-14698494 C>T	0.0	4287	COLON	-	-	-	-	CLEC17A	ENST00000397439,p.P64S	protein_coding, nonsense_mediated_decay	ENST00000397439	nonsynonymous SNV	exon3	c.C190T	p.P64S	YENSTPPYKDLPPKPALTLSFSSPG	YENSTPPYKDLPSKPALTLSFSSPG	3.0	6.0	unscreened	-	4287_19:14698494-14698494 C>T_YENSTPPYKDLPSKPALTLSFSSPG
X:7175617-7175617 A>C	1.0	4287	COLON	-	-	-	-	STS	uc004cry.4,p.T129P|ENST00000217961,p.T129P|NM_000351,p.T129P	protein_coding	uc004cry.4	nonsynonymous SNV	exon4	c.A385C	p.T129P	TFAKLLKDQGYSTALIGKWHLGMSC	TFAKLLKDQGYSPALIGKWHLGMSC	5.0	5.0	unscreened	-	4287_X:7175617-7175617 A>C_TFAKLLKDQGYSPALIGKWHLGMSC
19:49388765-49388765 A>T	0.0	4287	COLON	-	-	-	-	TULP2	NM_003323,p.L334H|ENST00000221399,p.L334H|uc002pkz.2,p.L334H	retained_intron, protein_coding	uc002pkz.2	nonsynonymous SNV	exon9	c.T1001A	p.L334H	GRKRRRSKTSNYLISLDPTHLSRDG	GRKRRRSKTSNYHISLDPTHLSRDG	1.0	6.0	unscreened	-	4287_19:49388765-49388765 A>T_GRKRRRSKTSNYHISLDPTHLSRDG
3:45267224-45267224 T>C	0.0	4287	COLON	-	-	-	-	TMEM158	NM_015444,p.D99G|ENST00000503771,p.D99G|uc011baf.2,p.D99G	protein_coding	uc011baf.2	nonsynonymous SNV	exon1	c.A296G	p.D99G	LVRWGRPRGFQCDLLLFSTNAHGRA	LVRWGRPRGFQCGLLLFSTNAHGRA	2.0	5.0	unscreened	-	4287_3:45267224-45267224 T>C_LVRWGRPRGFQCGLLLFSTNAHGRA
6:117245908-117245908 A>C	0.0	4287	COLON	-	-	-	-	RFX6	uc003pxm.3,p.K544N|ENST00000332958,p.K544N|NM_173560,p.K544N	retained_intron, protein_coding, processed_transcript	uc003pxm.3	nonsynonymous SNV	exon15	c.A1632C	p.K544N	ILLAMETQFNNDKEQELQNLLDKYM	ILLAMETQFNNDNEQELQNLLDKYM	1.0	3.0	unscreened	-	4287_6:117245908-117245908 A>C_ILLAMETQFNNDNEQELQNLLDKYM
6:110714172-110714172 T>A	0.0	4287	COLON	-	-	-	-	DDO	NM_003649,p.R306W|uc003puc.3,p.R306W|NM_004032,p.R247W|uc003pud.3,p.R247W|ENST00000368924,p.R306W|ENST00000368925,p.R278W|ENST00000368923,p.R247W	protein_coding, nonsense_mediated_decay	uc003pud.3	nonsynonymous SNV	exon4	c.A739T	p.R247W	HGACNIREKVGLRPYRPGVRLQTEL	HGACNIREKVGLWPYRPGVRLQTEL	5.0	4.0	unscreened	-	4287_6:110714172-110714172 T>A_HGACNIREKVGLWPYRPGVRLQTEL
12:49373408-49373408 A>G	0.0	4287	COLON	-	-	-	-	WNT1	ENST00000293549,p.S88G|NM_005430,p.S88G|uc001rsu.3,p.S88G	protein_coding	uc001rsu.3	nonsynonymous SNV	exon2	c.A262G	p.S88G	PGILHSVSGGLQSAVRECKWQFRNR	PGILHSVSGGLQGAVRECKWQFRNR	1.0	5.0	unscreened	-	4287_12:49373408-49373408 A>G_PGILHSVSGGLQGAVRECKWQFRNR
1:154842330-154842330 ->TGC	0.0	4287	COLON	-	-	-	-	KCNN3	NM_001204087,p.Q37delinsQQ|uc001ffp.3,p.Q37delinsQQ|uc009wox.1,p.Q37delinsQQ|NM_002249,p.Q37delinsQQ|uc021pah.1,p.Q37delinsQQ|ENST00000271915,p.Q37delinsQQ	protein_coding	uc021pah.1	nonframeshift insertion	exon1	c.110_111insGCA	p.Q37delinsQQ	SSGDEQQQQQQQQQQQQPPPPAPPA	SSGDEQQQQQQQQQQQQQPPPPAPP	4.0	7.0	unscreened	-	4287_1:154842330-154842330 ->TGC_SSGDEQQQQQQQQQQQQQPPPPAPP
3:119449158-119449158 C>T	0.0	4287	COLON	-	-	ID=COSM479261;OCCURENCE=1(kidney)	-	MAATS1	uc010hra.2,p.R79W|ENST00000273390,p.R318W|uc011bje.2,p.R298W|uc011bjd.2,p.R192W|uc010hqy.2,p.R318W|uc010hqz.3,p.R256W|NM_033364,p.R318W|uc003ede.4,p.R318W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bje.2	nonsynonymous SNV	exon8	c.C892T	p.R298W	NQNEVNMKHLNARWSKLQEGKEAKM	NQNEVNMKHLNAWWSKLQEGKEAKM	3.0	5.0	unscreened	-	4287_3:119449158-119449158 C>T_NQNEVNMKHLNAWWSKLQEGKEAKM
2:197208455-197208455 T>G	0.0	4287	COLON	-	-	-	-	HECW2	NM_020760,p.K109T|ENST00000260983,p.K109T|uc002utm.1,p.K109T|ENST00000452031,p.K109T	retained_intron, protein_coding	uc002utm.1	nonsynonymous SNV	exon3	c.A326C	p.K109T	IDENSPANFWDSKNRGVTGTQKGQI	IDENSPANFWDSTNRGVTGTQKGQI	5.0	4.0	unscreened	-	4287_2:197208455-197208455 T>G_IDENSPANFWDSTNRGVTGTQKGQI
X:105190329-105190329 A>C	0.0	4287	COLON	-	-	-	-	NRK	NM_198465,p.K1409T|ENST00000243300,p.K1409T|ENST00000428173,p.K1410T	protein_coding	NM_198465	nonsynonymous SNV	exon26	c.A4226C	p.K1409T	LLKLKVFPTLDHKPVTVDLAIGSEK	LLKLKVFPTLDHTPVTVDLAIGSEK	3.0	5.0	unscreened	-	4287_X:105190329-105190329 A>C_LLKLKVFPTLDHTPVTVDLAIGSEK
1:109377575-109377575 T>A	0.0	4287	COLON	-	-	-	-	AKNAD1	ENST00000461774,p.E547V	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000461774	nonsynonymous SNV	exon8	c.A1640T	p.E547V	TPQGGPQEAPNEELCELAPQTRIPT	TPQGGPQEAPNEVLCELAPQTRIPT	4.0	4.0	unscreened	-	4287_1:109377575-109377575 T>A_TPQGGPQEAPNEVLCELAPQTRIPT
2:179456965-179456965 A>C	0.0	4287	COLON	-	-	-	-	TTN	uc021vsz.2,p.I11016S|NM_003319,p.I10824S|ENST00000460472,p.I10824S|uc021vsy.2,p.I17321S|ENST00000342992,p.I17321S|uc021vta.2,p.I10949S|uc031rqd.1,p.I18248S|NM_133432,p.I10949S|ENST00000591111,p.I18248S|NM_133437,p.I11016S|ENST00000589042,p.I19889S|ENST00000342175,p.I11016S|uc021vtb.2,p.I10824S|NM_001256850,p.I18248S|ENST00000359218,p.I10949S|NM_133378,p.I17321S|uc031rqc.1,p.I19889S|NM_001267550,p.I19889S	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon252	c.T54743G	p.I18248S	KPGPPRDLEVSEIRKDSCYLTWKEP	KPGPPRDLEVSESRKDSCYLTWKEP	4.0	7.0	unscreened	-	4287_2:179456965-179456965 A>C_KPGPPRDLEVSESRKDSCYLTWKEP
1:181684519-181684519 C>A	0.0	4287	COLON	-	-	-	-	CACNA1E	NM_001205294,p.A406D|ENST00000367570,p.A406D|ENST00000358338,p.A357D|ENST00000360108,p.A406D|uc009wxt.3,p.A406D|ENST00000526775,p.A406D|ENST00000367573,p.A406D|ENST00000367567,p.A13D|ENST00000357570,p.A357D|uc009wxs.3,p.A406D|ENST00000524607,p.A406D|uc001gow.3,p.A406D|NM_001205293,p.A406D|NM_000721,p.A406D	retained_intron, protein_coding	uc009wxt.3	nonsynonymous SNV	exon9	c.C1217A	p.A406D	MLAEENKNAGTSALEVLRRATIKRS	MLAEENKNAGTSDLEVLRRATIKRS	3.0	5.0	unscreened	-	4287_1:181684519-181684519 C>A_MLAEENKNAGTSDLEVLRRATIKRS
2:167055185-167055185 T>-	0.0	4287	COLON	-	-	-	-	SCN9A	ENST00000409672,p.K1977fs|NM_002977,p.K1977fs|ENST00000303354,p.K1989fs|uc010fpl.3,p.K1977fs|ENST00000375387,p.K1989fs|ENST00000409435,p.K1988fs	retained_intron, protein_coding	uc010fpl.3	frameshift deletion	exon27	c.5931delA	p.K1977fs	KEDKGKDSKESKK	KEDKGKDSKESKN	5.0	8.0	unscreened	-	4287_2:167055185-167055185 T>-_KEDKGKDSKESKN
6:29323263-29323263 G>A	0.0	4287	COLON	-	-	-	-	OR5V1	NM_030876,p.A237V|ENST00000543825,p.A237V|ENST00000377154,p.A237V|uc011dlo.2,p.A237V	protein_coding	uc011dlo.2	nonsynonymous SNV	exon1	c.C710T	p.A237V	ILRIQSSEGRRKAFSTCASHLAIVF	ILRIQSSEGRRKVFSTCASHLAIVF	1.0	4.0	unscreened	-	4287_6:29323263-29323263 G>A_ILRIQSSEGRRKVFSTCASHLAIVF
15:28950750-28950750 T>C	0.0	4287	COLON	-	rs4296236	-	-	GOLGA8M	ENST00000563027,p.Q337R|NM_001282468,p.Q337R|ENST00000340249,p.Q256R	protein_coding, processed_transcript	NM_001282468	nonsynonymous SNV	exon12	c.A1010G	p.Q337R	QVKNNQRISLLNQRQEERIREQEER	QVKNNQRISLLNRRQEERIREQEER	4.0	3.0	unscreened	-	4287_15:28950750-28950750 T>C_QVKNNQRISLLNRRQEERIREQEER
6:122777667-122777667 T>G	1.0	4287	COLON	-	-	-	-	SERINC1	ENST00000339697,p.K110N|uc003pyy.1,p.K110N|NM_020755,p.K110N|ENST00000368454,p.K110N	protein_coding	uc003pyy.1	nonsynonymous SNV	exon3	c.A330C	p.K110N	AMFYLLLSLLMIKVKSSSDPRAAVH	AMFYLLLSLLMINVKSSSDPRAAVH	8.0	5.0	unscreened	-	4287_6:122777667-122777667 T>G_AMFYLLLSLLMINVKSSSDPRAAVH
11:56085927-56085927 A>G	0.0	4287	COLON	-	-	-	-	OR8K3	ENST00000312711,p.T49A|NM_001005202,p.T49A|uc010rjf.2,p.T49A	protein_coding	uc010rjf.2	nonsynonymous SNV	exon1	c.A145G	p.T49A	ISVMGNLGMIVLTKLDSRLQTPMYF	ISVMGNLGMIVLAKLDSRLQTPMYF	1.0	7.0	unscreened	-	4287_11:56085927-56085927 A>G_ISVMGNLGMIVLAKLDSRLQTPMYF
19:18254768-18254768 C>-	1.0	4287	COLON	-	-	-	-	MAST3	NM_015016,p.D816fs|uc002nhz.4,p.D816fs|ENST00000262811,p.D816fs	retained_intron, protein_coding	uc002nhz.4	frameshift deletion	exon21	c.2448delC	p.D816fs	GPKRPVFILGEPDPPPAATPVMPKP	GPKRPVFILGEPDPHQRPPQ	5.0	7.0	unscreened	-	4287_19:18254768-18254768 C>-_GPKRPVFILGEPDPHQRPPQ
7:142562308-142562308 ->G	0.0	4287	COLON	-	-	-	-	EPHB6	ENST00000422643,p.L161fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000422643	frameshift insertion	exon5	c.483dupG	p.L161fs	LKRWTKRRRPVGLGGPPWWQLWAPV	LKRWTKRRRPVGLGGASLVAAVGTCVAHAEPEEDGV	4.0	6.0	unscreened	-	4287_7:142562308-142562308 ->G_LKRWTKRRRPVGLGGASLVAAVGTCVAHAEPEEDGV
19:31768070-31768070 C>T	0.0	4287	COLON	-	-	-	-	TSHZ3	uc002nsy.4,p.A877T|ENST00000240587,p.A877T|NM_020856,p.A877T	protein_coding, processed_transcript	uc002nsy.4	nonsynonymous SNV	exon2	c.G2629A	p.A877T	PSSISEKSDIDGATLEEAEESTPAQ	PSSISEKSDIDGTTLEEAEESTPAQ	2.0	7.0	unscreened	-	4287_19:31768070-31768070 C>T_PSSISEKSDIDGTTLEEAEESTPAQ
4:119978582-119978582 T>A	0.0	4287	COLON	-	-	-	-	SYNPO2	uc011cgh.2,p.L95Q|ENST00000448416,p.L95Q|NM_001286755,p.L95Q	protein_coding	uc011cgh.2	nonsynonymous SNV	exon3	c.T284A	p.L95Q	LIKRRVGAPFLFLEDQSHPPFLHLL	LIKRRVGAPFLFQEDQSHPPFLHLL	4.0	4.0	unscreened	-	4287_4:119978582-119978582 T>A_LIKRRVGAPFLFQEDQSHPPFLHLL
6:31931437-31931437 A>C	1.0	4287	COLON	-	-	-	-	SKIV2L	uc011dov.1,p.K332T|uc011dou.1,p.K367T|ENST00000544581,p.K332T|NM_006929,p.K525T|uc003nyn.1,p.K525T|ENST00000375394,p.K525T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dov.1	nonsynonymous SNV	exon11	c.A995C	p.K332T	FHTKGYYAAVEAKKERMSKHAQTFG	FHTKGYYAAVEATKERMSKHAQTFG	8.0	6.0	unscreened	-	4287_6:31931437-31931437 A>C_FHTKGYYAAVEATKERMSKHAQTFG
6:73935118-73935118 G>A	0.0	4287	COLON	-	-	-	-	KHDC1L	uc003pgm.4,p.T5M|NM_001126063,p.T5M	protein_coding, processed_transcript,nonsense_mediated_decay	uc003pgm.4	nonsynonymous SNV	exon1	c.C14T	p.T5M	MAVGTSALSKEPWWTLP	MAVGMSALSKEPWWTLP	1.0	5.0	unscreened	-	4287_6:73935118-73935118 G>A_MAVGMSALSKEPWWTLP
2:130832875-130832875 C>T	0.0	4287	COLON	-	-	-	-	POTEF	uc010fmh.2,p.D724N|NM_001099771,p.D724N|ENST00000357462,p.D724N|ENST00000409914,p.D724N	protein_coding	uc010fmh.2	nonsynonymous SNV	exon17	c.G2170A	p.D724N	NGSGMCKAGFAGDDAPRAVFPSIVG	NGSGMCKAGFAGNDAPRAVFPSIVG	6.0	4.0	-	-	4287_2:130832875-130832875 C>T_NGSGMCKAGFAGNDAPRAVFPSIVG
17:28296040-28296040 A>C	0.0	4287	COLON	-	-	-	-	EFCAB5	ENST00000448319,p.K85T|NM_198529,p.K141T|uc010cse.3,p.K20T|ENST00000320856,p.K141T|uc010csf.3,p.K20T|uc010wbj.2,p.K85T|NM_001145053,p.K85T|ENST00000378738,p.K141T|ENST00000536908,p.K85T|uc002het.3,p.K141T|ENST00000394832,p.K141T|ENST00000394835,p.K141T|ENST00000440741,p.K141T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wbj.2	nonsynonymous SNV	exon4	c.A254C	p.K85T	MQQKIIDKENLKKELEKKAEKKLPR	MQQKIIDKENLKTELEKKAEKKLPR	4.0	3.0	unscreened	-	4287_17:28296040-28296040 A>C_MQQKIIDKENLKTELEKKAEKKLPR
3:62358135-62358135 C>T	0.0	4287	COLON	-	-	-	-	FEZF2	NM_018008,p.A137T|uc003dli.2,p.A137T|uc003dlh.2,p.A137T|ENST00000283268,p.A137T|ENST00000475839,p.A137T|ENST00000486811,p.A137T	protein_coding	uc003dli.2	nonsynonymous SNV	exon2	c.G409A	p.A137T	GLCKTNCGVCCKAELGLAPSALPAG	GLCKTNCGVCCKTELGLAPSALPAG	1.0	5.0	unscreened	-	4287_3:62358135-62358135 C>T_GLCKTNCGVCCKTELGLAPSALPAG
19:1796984-1796984 T>C	0.0	4287	COLON	-	-	-	-	ATP8B3	NM_138813,p.T525A|ENST00000525591,p.T478A|ENST00000310127,p.T525A|uc002ltw.4,p.T525A|NM_001178002,p.T478A|uc002ltv.4,p.T478A|ENST00000539485,p.T525A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ltw.4	nonsynonymous SNV	exon15	c.A1573G	p.T525A	SGRVYGPDSEATTRPKENPYLWNKF	SGRVYGPDSEATARPKENPYLWNKF	3.0	6.0	unscreened	-	4287_19:1796984-1796984 T>C_SGRVYGPDSEATARPKENPYLWNKF
13:25444754-25444754 C>A	0.0	4287	COLON	-	-	-	-	RNF17	uc010aad.3,p.Q452K|ENST00000255324,p.Q1442K|uc010tde.2,p.Q1438K|NM_001184993,p.Q1438K|ENST00000339524,p.Q452K|ENST00000418120,p.Q766K|ENST00000381921,p.Q1400K|uc001ups.3,p.Q1381K|NM_031277,p.Q1442K|uc010aac.3,p.Q634K|uc001upr.3,p.Q1442K	protein_coding, processed_transcript	uc010tde.2	nonsynonymous SNV	exon32	c.C4312A	p.Q1438K	CLDSIETSNQSNQHSDTDDSGVSGE	CLDSIETSNQSNKHSDTDDSGVSGE	1.0	3.0	unscreened	-	4287_13:25444754-25444754 C>A_CLDSIETSNQSNKHSDTDDSGVSGE
20:61981811-61981811 T>C	0.0	4287	COLON	-	-	-	-	CHRNA4	uc002yes.3,p.T318A|uc002yet.2,p.T142A|ENST00000370263,p.T318A|uc010gkf.2,p.T142A|uc002yev.2,p.T142A|NM_001256573,p.T142A|NM_000744,p.T318A|uc010gke.1,p.T247A	protein_coding, processed_transcript, nonsense_mediated_decay	uc010gkf.2	nonsynonymous SNV	exon5	c.A424G	p.T142A	IGEYLLFTMIFVTLSIVITVFVLNV	IGEYLLFTMIFVALSIVITVFVLNV	1.0	5.0	unscreened	-	4287_20:61981811-61981811 T>C_IGEYLLFTMIFVALSIVITVFVLNV
5:139217294-139217294 T>A	0.0	4287	COLON	-	-	-	-	PSD2	uc003leu.1,p.S584T|ENST00000274710,p.S584T|NM_032289,p.S584T	protein_coding	uc003leu.1	nonsynonymous SNV	exon12	c.T1750A	p.S584T	AIRVHHALATRASDYSKKSNVLKLK	AIRVHHALATRATDYSKKSNVLKLK	1.0	5.0	unscreened	-	4287_5:139217294-139217294 T>A_AIRVHHALATRATDYSKKSNVLKLK
19:30936562-30936562 G>T	0.0	4287	COLON	-	-	-	-	ZNF536	uc010edd.1,p.S698I|NM_014717,p.S698I|uc002nsu.1,p.S698I|ENST00000585628,p.S698I|ENST00000355537,p.S698I	protein_coding, processed_transcript	uc010edd.1	nonsynonymous SNV	exon2	c.G2093T	p.S698I	STTPGSSNVTEESGVGGGLSQTGSA	STTPGSSNVTEEIGVGGGLSQTGSA	1.0	4.0	unscreened	-	4287_19:30936562-30936562 G>T_STTPGSSNVTEEIGVGGGLSQTGSA
12:100813672-100813672 C>A	0.0	4287	COLON	-	-	-	-	SLC17A8	NM_001145288,p.A452D|NM_139319,p.A502D|uc009ztx.3,p.A452D|ENST00000323346,p.A502D|ENST00000392989,p.A452D|uc010svi.2,p.A502D	retained_intron, protein_coding, processed_transcript	uc010svi.2	nonsynonymous SNV	exon12	c.C1505A	p.A502D	VHYSGVIFYGVFASGEKQEWADPEN	VHYSGVIFYGVFDSGEKQEWADPEN	2.0	7.0	unscreened	-	4287_12:100813672-100813672 C>A_VHYSGVIFYGVFDSGEKQEWADPEN
11:17629939-17629939 C>A	0.0	4287	COLON	-	-	-	-	OTOG	NM_001277269,p.A1430D|NM_001292063,p.A1418D|uc031pzc.1,p.A1430D|ENST00000342528,p.A436D|ENST00000399397,p.A1357D|uc001mnh.1,p.A436D|ENST00000399391,p.A1430D	retained_intron, protein_coding, processed_transcript	uc031pzc.1	nonsynonymous SNV	exon33	c.C4289A	p.A1430D	SPCFQTCRDPRAASCRDVPRVEGCV	SPCFQTCRDPRADSCRDVPRVEGCV	2.0	6.0	unscreened	-	4287_11:17629939-17629939 C>A_SPCFQTCRDPRADSCRDVPRVEGCV
19:58907889-58907889 G>T	0.0	4287	COLON	-	-	-	-	RNF225	NM_001195135,p.G145C|uc021vcz.1,p.G145C|ENST00000601382,p.G145C	protein_coding	uc021vcz.1	nonsynonymous SNV	exon1	c.G433T	p.G145C	LPRDARAPPSRQGSVRFDRRRGLLY	LPRDARAPPSRQCSVRFDRRRGLLY	1.0	6.0	unscreened	-	4287_19:58907889-58907889 G>T_LPRDARAPPSRQCSVRFDRRRGLLY
21:31587724-31587724 C>A	0.0	4287	COLON	-	-	-	-	CLDN8	uc002ynu.2,p.V174L|ENST00000399899,p.V174L|NM_199328,p.V174L|ENST00000286809,p.V174L	protein_coding	uc002ynu.2	nonsynonymous SNV	exon1	c.G520T	p.V174L	GEALYLGWTTALVLIVGGALFCCVF	GEALYLGWTTALLLIVGGALFCCVF	1.0	5.0	unscreened	-	4287_21:31587724-31587724 C>A_GEALYLGWTTALLLIVGGALFCCVF
2:114399660-114399660 G>A	1.0	4287	COLON	-	-	-	-	RABL2A	ENST00000376439,p.S151N|uc010flb.3,p.S214N|uc002tkn.4,p.S214N|ENST00000409875,p.S224N|ENST00000393165,p.S215N|NM_007082,p.S214N|uc002tkr.3,p.S215N|ENST00000409842,p.S151N|uc002tks.4,p.S215N|ENST00000393167,p.S214N|uc002tkm.4,p.S151N|NM_013412,p.S214N|ENST00000393166,p.S214N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010flb.3	nonsynonymous SNV	exon9	c.G641A	p.S214N	QEEEDVPDQEQSSSIETPSEEVASP	QEEEDVPDQEQSNSIETPSEEVASP	9.0	6.0	unscreened	-	4287_2:114399660-114399660 G>A_QEEEDVPDQEQSNSIETPSEEVASP
12:57487378-57487378 G>A	0.0	4287	COLON	-	-	ID=COSM1216587;OCCURENCE=1(large_intestine)	1	NAB2	ENST00000300131,p.A489T|uc001smz.3,p.A489T|NM_005967,p.A489T	retained_intron, protein_coding, processed_transcript	uc001smz.3	nonsynonymous SNV	exon6	c.G1465A	p.A489T	RLSPCVPAKPPLAEFEEGLLDRCPA	RLSPCVPAKPPLTEFEEGLLDRCPA	5.0	5.0	unscreened	-	4287_12:57487378-57487378 G>A_RLSPCVPAKPPLTEFEEGLLDRCPA
3:195506459-195506459 C>T	0.0	4287	COLON	-	-	-	2	MUC4	uc021xjp.1,p.A3998T|ENST00000470451,p.A3998T|NM_018406,p.A3998T|ENST00000463781,p.A3998T|ENST00000477086,p.A3998T|ENST00000475231,p.A3998T|ENST00000462323,p.A3998T|ENST00000478156,p.A3998T|ENST00000477756,p.A3998T|ENST00000466475,p.A3998T|ENST00000480843,p.A3998T|ENST00000479406,p.A3998T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.G11992A	p.A3998T	PVTDTSSVSTGHATPLPVTSTSSVS	PVTDTSSVSTGHTTPLPVTSTSSVS	4.0	4.0	unscreened	-	4287_3:195506459-195506459 C>T_PVTDTSSVSTGHTTPLPVTSTSSVS
11:26586897-26586897 A>C	0.0	4287	COLON	-	-	-	-	MUC15	ENST00000529533,p.I197S|ENST00000436318,p.I197S|ENST00000455601,p.I170S|ENST00000527569,p.I197S|uc001mqw.3,p.I197S|ENST00000281268,p.I197S|NM_001135091,p.I197S|uc001mqy.3,p.I197S|NM_145650,p.I170S|NM_001135092,p.I197S|uc001mqx.3,p.I170S	protein_coding	uc001mqy.3	nonsynonymous SNV	exon3	c.T590G	p.I197S	VKTPDNSSITVSILSSEPTSPSVTP	VKTPDNSSITVSSLSSEPTSPSVTP	4.0	4.0	unscreened	-	4287_11:26586897-26586897 A>C_VKTPDNSSITVSSLSSEPTSPSVTP
3:52830841-52830841 A>G	0.0	4287	COLON	-	-	-	-	ITIH3	uc011bek.1,p.K123R|ENST00000449956,p.K123R|uc003dfv.2,p.K123R|NM_002217,p.K123R|ENST00000416872,p.K123R	retained_intron, protein_coding, processed_transcript	uc011bek.1	nonsynonymous SNV	exon4	c.A368G	p.K123R	AKKQYEKAVSQGKTAGLVKASGRKL	AKKQYEKAVSQGRTAGLVKASGRKL	4.0	6.0	unscreened	-	4287_3:52830841-52830841 A>G_AKKQYEKAVSQGRTAGLVKASGRKL
2:74273835-74273835 G>A	1.0	4287	COLON	-	-	-	-	TET3	ENST00000409262,p.R129Q|ENST00000305799,p.R171Q|uc010fez.3,p.R129Q|uc002skb.5,p.R264Q|NM_001287491,p.R264Q|uc031roi.1,p.R129Q	retained_intron, protein_coding	uc031roi.1	nonsynonymous SNV	exon1	c.G386A	p.R129Q	DLDTLQTALALARHGMKPPNCNCDG	DLDTLQTALALAQHGMKPPNCNCDG	5.0	4.0	unscreened	-	4287_2:74273835-74273835 G>A_DLDTLQTALALAQHGMKPPNCNCDG
2:114399660-114399660 G>A	1.0	4287	COLON	-	-	-	-	RABL2A	uc002tkp.4,p.S215N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tkp.4	nonsynonymous SNV	exon9	c.G644A	p.S215N	QEEEDVPDQEQSSSIETPSEEE	QEEEDVPDQEQSNSIETPSEEE	9.0	6.0	unscreened	-	4287_2:114399660-114399660 G>A_QEEEDVPDQEQSNSIETPSEEE
15:79310213-79310213 A>T	0.0	4287	COLON	-	-	-	-	RASGRF1	uc002beq.3,p.F548I|NM_002891,p.F548I|ENST00000558480,p.F548I|uc002bep.3,p.F548I|uc010blm.1,p.F470I|NM_001145648,p.F548I|ENST00000419573,p.F548I|uc002ber.4,p.F548I	retained_intron, protein_coding, processed_transcript, TEC	uc010blm.1	nonsynonymous SNV	exon11	c.T1408A	p.F470I	AKGSGQDIDHLDFKIGVEPKDSPPF	AKGSGQDIDHLDIKIGVEPKDSPPF	5.0	6.0	unscreened	-	4287_15:79310213-79310213 A>T_AKGSGQDIDHLDIKIGVEPKDSPPF
19:14698494-14698494 C>T	0.0	4287	COLON	-	-	-	-	CLEC17A	ENST00000551730,p.P64S|uc010xnu.2,p.P64S|ENST00000547437,p.P64S|uc010dzn.2,p.P64S|NM_207390,p.P64S|ENST00000417570,p.P64S|ENST00000339847,p.P64S|NM_001204118,p.P64S|uc010dzo.2,p.P64S	protein_coding, nonsense_mediated_decay	uc010xnu.2	nonsynonymous SNV	exon3	c.C190T	p.P64S	YENSTPPYKDLPPKPGTMEEEEEDD	YENSTPPYKDLPSKPGTMEEEEEDD	3.0	6.0	unscreened	-	4287_19:14698494-14698494 C>T_YENSTPPYKDLPSKPGTMEEEEEDD
19:4297985-4297985 G>T	0.0	4287	COLON	-	-	-	-	TMIGD2	NM_001169126,p.P135Q|NM_144615,p.P135Q|uc002lzx.2,p.P135Q|ENST00000301272,p.P135Q|uc010dtv.2,p.P135Q|ENST00000595645,p.P135Q	protein_coding	uc010dtv.2	nonsynonymous SNV	exon2	c.C404A	p.P135Q	EAEGNITRLFVDPDDPTQNRNRIAS	EAEGNITRLFVDQDDPTQNRNRIAS	2.0	6.0	unscreened	-	4287_19:4297985-4297985 G>T_EAEGNITRLFVDQDDPTQNRNRIAS
19:22847297-22847297 G>T	0.0	4287	COLON	-	-	-	-	ZNF492	NM_020855,p.A276S|ENST00000456783,p.A276S|uc002nqw.3,p.A276S	protein_coding	uc002nqw.3	nonsynonymous SNV	exon4	c.G826T	p.A276S	QSSTLTAHKIIHAGEKPYKCEECGK	QSSTLTAHKIIHSGEKPYKCEECGK	4.0	6.0	unscreened	-	4287_19:22847297-22847297 G>T_QSSTLTAHKIIHSGEKPYKCEECGK
19:56421929-56421929 G>A	0.0	4287	COLON	-	-	-	-	NLRP13	ENST00000342929,p.T761M|uc010ygg.2,p.T761M|NM_176810,p.T761M|ENST00000588751,p.T761M	protein_coding	uc010ygg.2	nonsynonymous SNV	exon6	c.C2282T	p.T761M	ALKNPRCKVQKLTCKSVTPEWVLQD	ALKNPRCKVQKLMCKSVTPEWVLQD	1.0	5.0	unscreened	-	4287_19:56421929-56421929 G>A_ALKNPRCKVQKLMCKSVTPEWVLQD
10:132932646-132932646 T>C	0.0	4287	COLON	-	-	-	-	TCERG1L	ENST00000368642,p.N419D|uc001lkp.3,p.N419D|NM_174937,p.N419D	retained_intron, protein_coding	uc001lkp.3	nonsynonymous SNV	exon8	c.A1255G	p.N419D	DNREDQDVKTKRNRTEGCGSPKPEE	DNREDQDVKTKRDRTEGCGSPKPEE	1.0	6.0	unscreened	-	4287_10:132932646-132932646 T>C_DNREDQDVKTKRDRTEGCGSPKPEE
12:11506403-11506403 A>G	0.0	4287	COLON	-	rs113897264	-	-	PRB1	uc001qzw.1,p.S211P	retained_intron, protein_coding	uc001qzw.1	nonsynonymous SNV	exon4	c.T631C	p.S211P	PQGPPPQGDKSRSSQSPPGKPQGPP	PQGPPPQGDKSRPSQSPPGKPQGPP	1.0	7.0	unscreened	-	4287_12:11506403-11506403 A>G_PQGPPPQGDKSRPSQSPPGKPQGPP
10:129536033-129536033 G>A	0.0	4287	COLON	-	-	ID=COSM1297060;OCCURENCE=1(urinary_tract)	-	FOXI2	NM_207426,p.D166N|ENST00000388920,p.D166N|uc009yas.2,p.D166N	protein_coding	uc009yas.2	nonsynonymous SNV	exon1	c.G496A	p.D166N	LSLNDCFKKVPRDEDDPGKGNYWTL	LSLNDCFKKVPRNEDDPGKGNYWTL	1.0	5.0	unscreened	-	4287_10:129536033-129536033 G>A_LSLNDCFKKVPRNEDDPGKGNYWTL
5:1474784-1474793 CGGAGACACC>-	1.0	4287	COLON	-	-	-	-	LPCAT1	ENST00000283415,p.G303fs|NM_024830,p.G303fs|uc003jcm.3,p.G303fs|ENST00000475622,p.G303fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jcm.3	frameshift deletion	exon10	c.907_916del	p.G303fs	ASNVRRVMAEALGVSVTDYTFEDCQ	ASNVRRVMAEAL	7.0	10.0	-	-	4287_5:1474784-1474793 CGGAGACACC>-_ASNVRRVMAEAL
5:111756110-111756119 GGACTGAGGG>-	0.0	4287	COLON	-	-	-	-	EPB41L4A-AS2	ENST00000600409,p.Q272fs|uc003kpx.2,p.Q272fs	protein_coding	uc003kpx.2	frameshift deletion	exon1	c.816_837del	p.Q272fs	SQSHALRAVGRVQD	SQSHALRAVGRV	2.0	9.0	unscreened	-	4287_5:111756110-111756119 GGACTGAGGG>-_SQSHALRAVGRV
11:59410471-59410473 AGA>-	1.0	4298	RECTAL	-	-	-	-	PATL1	NM_152716,p.643_644del|uc009yms.1,p.613_614del|ENST00000300146,p.643_644del|uc001noe.4,p.643_644del	retained_intron, protein_coding	uc009yms.1	nonframeshift deletion	exon15	c.1839_1841del	p.613_614del	EVLPCLLSPFSLLLYHLPSVSITSL	EVLPCLLSPFSLLYHLPSVSITSLL	8.0	6.0	-	-	4298_11:59410471-59410473 AGA>-_EVLPCLLSPFSLLYHLPSVSITSLL
8:144995692-144995692 T>A	1.0	4298	RECTAL	-	-	-	-	PLEC	ENST00000345136,p.K2766M|uc003zaf.1,p.K2903M|ENST00000356346,p.K2752M|uc003zab.1,p.K2766M|uc003zac.1,p.K2770M|NM_000445,p.K2793M|uc003zae.1,p.K2734M|ENST00000354958,p.K2744M|NM_201384,p.K2766M|NM_201382,p.K2766M|ENST00000436759,p.K2793M|NM_201381,p.K2734M|uc003zag.1,p.K2744M|uc003zaj.2,p.K2793M|NM_201383,p.K2770M|uc003zah.2,p.K2752M|ENST00000398774,p.K2734M|ENST00000322810,p.K2903M|uc003zad.2,p.K2766M|NM_201379,p.K2744M|ENST00000527096,p.K2789M|NM_201380,p.K2903M|ENST00000357649,p.K2770M|ENST00000354589,p.K2766M|NM_201378,p.K2752M	retained_intron, protein_coding	uc003zaj.2	nonsynonymous SNV	exon33	c.A8378T	p.K2793M	VKEGVVGPELHHKLLSAERAVTGYK	VKEGVVGPELHHMLLSAERAVTGYK	10.0	3.0	-	-	4298_8:144995692-144995692 T>A_VKEGVVGPELHHMLLSAERAVTGYK
14:103434693-103434693 T>G	1.0	4298	RECTAL	-	-	-	-	CDC42BPB	NM_006035,p.H748P|uc001ymi.1,p.H748P|ENST00000361246,p.H748P	retained_intron, protein_coding	uc001ymi.1	nonsynonymous SNV	exon16	c.A2243C	p.H748P	LKDKLEKSKRERHNEMEEAVGTIKD	LKDKLEKSKRERPNEMEEAVGTIKD	9.0	3.0	-	-	4298_14:103434693-103434693 T>G_LKDKLEKSKRERPNEMEEAVGTIKD
2:73676659-73676659 C>T	1.0	4298	RECTAL	-	-	-	-	ALMS1	uc002sje.1,p.S1001F|NM_015120,p.S1001F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002sje.1	nonsynonymous SNV	exon8	c.C3002T	p.S1001F	TDQKTVPTPTVPSGSFSHREKPSIF	TDQKTVPTPTVPFGSFSHREKPSIF	7.0	8.0	-	-	4298_2:73676659-73676659 C>T_TDQKTVPTPTVPFGSFSHREKPSIF
X:153130576-153130576 C>T	1.0	4298	RECTAL	-	-	ID=COSM77984;OCCURENCE=1(central_nervous_system),1(ovary)	-	L1CAM	ENST00000370055,p.V942M|ENST00000370057,p.V947M|NM_001278116,p.V947M|NM_024003,p.V947M|NM_001143963,p.V942M|ENST00000370060,p.V947M|uc010nuo.4,p.V942M|ENST00000538883,p.V949M|NM_000425,p.V947M|uc004fjb.4,p.V947M|ENST00000361981,p.V942M|uc004fjc.4,p.V947M|uc031tks.1,p.V947M|ENST00000543994,p.V949M|ENST00000361699,p.V947M	retained_intron, protein_coding, processed_transcript	uc031tks.1	nonsynonymous SNV	exon22	c.G2839A	p.V947M	LLRWQPPLSHNGVLTGYVLSYHPLD	LLRWQPPLSHNGMLTGYVLSYHPLD	6.0	9.0	-	-	4298_X:153130576-153130576 C>T_LLRWQPPLSHNGMLTGYVLSYHPLD
3:180324156-180324156 G>T	1.0	4298	RECTAL	-	-	-	-	TTC14	uc003fkl.3,p.A349S|ENST00000470669,p.A349S|NM_001288582,p.A349S|NM_133462,p.A349S|uc003fkm.2,p.A349S|uc003fkk.3,p.A349S|ENST00000412756,p.A349S|ENST00000382584,p.A349S|NM_001042601,p.A349S|ENST00000296015,p.A349S	protein_coding, processed_transcript, nonsense_mediated_decay	uc003fkm.2	nonsynonymous SNV	exon8	c.G1045T	p.A349S	DKQNVEALVARGALYATKGSLNKAI	DKQNVEALVARGSLYATKGSLNKAI	9.0	9.0	-	-	4298_3:180324156-180324156 G>T_DKQNVEALVARGSLYATKGSLNKAI
20:45856005-45856005 T>G	1.0	4298	RECTAL	-	-	-	-	ZMYND8	NM_001281782,p.E888A|ENST00000372023,p.E888A|uc010ghr.1,p.E868A	protein_coding, processed_transcript	uc010ghr.1	nonsynonymous SNV	exon16	c.A2603C	p.E868A	AKYTSKIRRLRIEIEKLQWLHQQEL	AKYTSKIRRLRIAIEKLQWLHQQEL	10.0	2.0	-	-	4298_20:45856005-45856005 T>G_AKYTSKIRRLRIAIEKLQWLHQQEL
X:47085366-47085366 C>A	1.0	4298	RECTAL	-	-	-	-	CDK16	ENST00000276052,p.D318E|uc011mlk.2,p.D244E|uc011mli.2,p.D250E|NM_001170460,p.D318E|uc011mll.2,p.D318E|NM_006201,p.D244E|uc011mlj.2,p.D244E|ENST00000518022,p.D244E|uc004dho.3,p.D244E|NM_033018,p.D250E|ENST00000457458,p.D250E|ENST00000517426,p.D244E|ENST00000357227,p.D244E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011mll.2	nonsynonymous SNV	exon8	c.C954A	p.D318E	TEKSLTLVFEYLDKDLKQYLDDCGN	TEKSLTLVFEYLEKDLKQYLDDCGN	10.0	7.0	-	-	4298_X:47085366-47085366 C>A_TEKSLTLVFEYLEKDLKQYLDDCGN
17:8136341-8136341 C>T	1.0	4298	RECTAL	-	-	-	-	CTC1	ENST00000315684,p.G610R|NM_025099,p.G610R|ENST00000449476,p.G575R|uc002gkq.4,p.G610R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gkq.4	nonsynonymous SNV	exon11	c.G1828A	p.G610R	LPSAFCPAQVLLGVLVASSHKGCLQ	LPSAFCPAQVLLRVLVASSHKGCLQ	8.0	6.0	-	-	4298_17:8136341-8136341 C>T_LPSAFCPAQVLLRVLVASSHKGCLQ
15:40750931-40750931 G>A	1.0	4298	RECTAL	-	-	-	-	BAHD1	uc001zlv.2,p.D90N|ENST00000560846,p.D90N|ENST00000416165,p.D90N|uc010bbp.1,p.D90N|NM_014952,p.D90N|NM_001301132,p.D90N|ENST00000561234,p.D90N|uc001zlt.2,p.D90N|uc001zlu.2,p.D90N	retained_intron, protein_coding	uc010bbp.1	nonsynonymous SNV	exon2	c.G268A	p.D90N	ENVAGPRSADEADELPPDLPKPPSP	ENVAGPRSADEANELPPDLPKPPSP	6.0	1.0	-	-	4298_15:40750931-40750931 G>A_ENVAGPRSADEANELPPDLPKPPSP
12:54795157-54795157 C>A	1.0	4298	RECTAL	-	-	-	-	ITGA5	ENST00000293379,p.E831D|NM_002205,p.E831D|uc001sga.3,p.E831D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sga.3	nonsynonymous SNV	exon24	c.G2493T	p.E831D	EEDLGPAVHHVYELINQGPSSISQG	EEDLGPAVHHVYDLINQGPSSISQG	9.0	9.0	-	-	4298_12:54795157-54795157 C>A_EEDLGPAVHHVYDLINQGPSSISQG
10:72179672-72179672 A>C	1.0	4298	RECTAL	-	-	-	-	EIF4EBP2	NM_004096,p.T50P|ENST00000373218,p.T50P|uc001jrb.3,p.T50P	protein_coding	uc001jrb.3	nonsynonymous SNV	exon2	c.A148C	p.T50P	PGGTLFSTTPGGTRIIYDRKFLLDR	PGGTLFSTTPGGPRIIYDRKFLLDR	6.0	1.0	-	-	4298_10:72179672-72179672 A>C_PGGTLFSTTPGGPRIIYDRKFLLDR
1:182356337-182356337 C>T	1.0	4298	RECTAL	0.0005	-	-	-	GLUL	NM_002065,p.R86Q|NM_001033056,p.R86Q|ENST00000331872,p.R86Q|uc001gpc.2,p.R86Q|uc001gpd.2,p.R86Q|ENST00000311223,p.R86Q|NM_001033044,p.R86Q|ENST00000417584,p.R86Q|uc001gpb.2,p.R86Q|uc001gpa.2,p.R86Q|ENST00000339526,p.R86Q	protein_coding, processed_transcript	uc001gpd.2	nonsynonymous SNV	exon3	c.G257A	p.R86Q	NSDMYLVPAAMFRDPFRKDPNKLVL	NSDMYLVPAAMFQDPFRKDPNKLVL	10.0	8.0	-	-	4298_1:182356337-182356337 C>T_NSDMYLVPAAMFQDPFRKDPNKLVL
14:93678420-93678420 T>G	1.0	4298	RECTAL	-	-	-	-	UBR7	NM_175748,p.F130V|uc001ybm.4,p.F130V|uc001ybn.4,p.F54V|ENST00000416753,p.F54V|ENST00000557574,p.F149V|ENST00000013070,p.F130V	protein_coding, nonsense_mediated_decay	uc001ybn.4	nonsynonymous SNV	exon3	c.T160G	p.F54V	AKVNSGNKYNDNFFGLYCICKRPYP	AKVNSGNKYNDNVFGLYCICKRPYP	8.0	6.0	-	-	4298_14:93678420-93678420 T>G_AKVNSGNKYNDNVFGLYCICKRPYP
9:103109422-103109422 C>A, 9:103109420-103109420 ->T	1.0	4298	RECTAL	-	-	-	-	TEX10	NM_001161584,p.M152I|ENST00000374902,p.M149I|uc004bas.3,p.M149I|uc011lvh.1,p.M84I|uc011lvg.2,p.M152I|NM_017746,p.M149I|ENST00000535814,p.M152I|ENST00000537512,p.M84I	protein_coding, processed_transcript	uc011lvh.1	nonsynonymous SNV	exon2	c.G252T, c.253dupA	p.M84I, p.T85fs	FFPLVSAHLSSAMTHITEGIQEDSL	FFPLVSAHLSSAINSHY	5.0	10.0	unscreened	Additional variant within 36 nucleotides, 9:103109420-103109420 ->T PR	4298_9:103109422-103109422 C>A, 9:103109420-103109420 ->T_FFPLVSAHLSSAINSHY
14:61446227-61446227 G>A	1.0	4298	RECTAL	-	-	-	-	TRMT5	uc001xff.4,p.P130L|ENST00000261249,p.P130L|NM_020810,p.P130L	protein_coding	uc001xff.4	nonsynonymous SNV	exon2	c.C389T	p.P130L	LQRPGIRRVIEDPEDKESRLIMLDP	LQRPGIRRVIEDLEDKESRLIMLDP	6.0	10.0	-	-	4298_14:61446227-61446227 G>A_LQRPGIRRVIEDLEDKESRLIMLDP
15:63824880-63824880 G>C	1.0	4298	RECTAL	-	-	-	-	USP3	ENST00000536001,p.L42F|uc002amf.4,p.L42F|NM_006537,p.L42F|ENST00000380324,p.L42F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002amf.4	nonsynonymous SNV	exon2	c.G126C	p.L42F	SVCRSNKSPWVCLTCSSVHCGRYVN	SVCRSNKSPWVCFTCSSVHCGRYVN	9.0	5.0	-	-	4298_15:63824880-63824880 G>C_SVCRSNKSPWVCFTCSSVHCGRYVN
15:63824880-63824880 G>C	1.0	4298	RECTAL	-	-	-	-	USP3	uc010bgs.4,p.L25F|ENST00000558285,p.L25F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bgs.4	nonsynonymous SNV	exon1	c.G75C	p.L25F	LVCRSNKSPWVCLTCSSVHCGRYVN	LVCRSNKSPWVCFTCSSVHCGRYVN	9.0	5.0	-	-	4298_15:63824880-63824880 G>C_LVCRSNKSPWVCFTCSSVHCGRYVN
19:763526-763526 G>A	1.0	4298	RECTAL	-	-	-	-	MISP	NM_173481,p.R659H|uc002lpo.3,p.R659H|ENST00000215582,p.R659H	protein_coding	uc002lpo.3	nonsynonymous SNV	exon5	c.G1976A	p.R659H	INSEVLEAIRVTRHKNAMAERWESR	INSEVLEAIRVTHHKNAMAERWESR	9.0	3.0	-	-	4298_19:763526-763526 G>A_INSEVLEAIRVTHHKNAMAERWESR
17:3567983-3567983 T>G	1.0	4298	RECTAL	-	-	-	-	TAX1BP3	ENST00000225525,p.K50T|uc002fwc.3,p.K50T|NM_014604,p.K50T	protein_coding	uc002fwc.3	nonsynonymous SNV	exon2	c.A149C	p.K50T	DQDPSQNPFSEDKTDKGIYVTRVSE	DQDPSQNPFSEDTTDKGIYVTRVSE	8.0	7.0	CD8	-	4298_17:3567983-3567983 T>G_DQDPSQNPFSEDTTDKGIYVTRVSE
2:73676659-73676659 C>T	1.0	4298	RECTAL	-	-	-	-	ALMS1	ENST00000409009,p.S959F|ENST00000264448,p.S1001F|uc002sjh.1,p.S389F|uc002sjf.1,p.S959F|ENST00000377715,p.S1001F|uc002sjg.3,p.S389F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002sjh.1	nonsynonymous SNV	exon1	c.C1166T	p.S389F	QKTVPTPTVPSGSFSHREKPSIFYQ	QKTVPTPTVPSGFFSHREKPSIFYQ	7.0	8.0	-	-	4298_2:73676659-73676659 C>T_QKTVPTPTVPSGFFSHREKPSIFYQ
14:91044508-91044508 C>T	1.0	4298	RECTAL	-	-	-	-	TTC7B	uc001xyp.3,p.R751Q|uc001xyo.3,p.R195Q|NM_001010854,p.R751Q|ENST00000328459,p.R751Q|ENST00000553972,p.R238Q|ENST00000357056,p.R768Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xyp.3	nonsynonymous SNV	exon19	c.G2252A	p.R751Q	IAELRGSMDEARRWYEEALAISPTH	IAELRGSMDEARQWYEEALAISPTH	7.0	10.0	-	-	4298_14:91044508-91044508 C>T_IAELRGSMDEARQWYEEALAISPTH
1:894319-894319 G>A	1.0	4298	RECTAL	-	-	-	-	NOC2L	uc009vjr.2,p.P57S	retained_intron, protein_coding, processed_transcript	uc009vjr.2	nonsynonymous SNV	exon2	c.C169T	p.P57S	EAARSPDKPGGSPSARLVGTCVSRT	EAARSPDKPGGSSSARLVGTCVSRT	10.0	4.0	-	-	4298_1:894319-894319 G>A_EAARSPDKPGGSSSARLVGTCVSRT
22:36722620-36722620 T>A	1.0	4298	RECTAL	-	-	-	1	MYH9	uc003api.1,p.K202M|ENST00000401701,p.K202M	retained_intron, protein_coding, processed_transcript	uc003api.1	nonsynonymous SNV	exon5	c.A605T	p.K202M	YLAYVASSHKSKKDQEAYFKNRAVR	YLAYVASSHKSKMDQEAYFKNRAVR	10.0	5.0	-	-	4298_22:36722620-36722620 T>A_YLAYVASSHKSKMDQEAYFKNRAVR
15:63824880-63824880 G>C	1.0	4298	RECTAL	-	-	-	-	USP3	ENST00000540797,p.L42F|ENST00000560070,p.L42F|NM_001256702,p.L42F|uc010uij.3,p.L42F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uij.3	nonsynonymous SNV	exon2	c.G126C	p.L42F	SVCRSNKSPWVCLTCSSVHCGSYRC	SVCRSNKSPWVCFTCSSVHCGSYRC	9.0	5.0	-	-	4298_15:63824880-63824880 G>C_SVCRSNKSPWVCFTCSSVHCGSYRC
17:38340517-38340517 A>T	1.0	4298	RECTAL	-	-	-	-	RAPGEFL1	ENST00000541245,p.Q48H|ENST00000544503,p.Q60H|ENST00000456989,p.Q66H	retained_intron, protein_coding, processed_transcript	ENST00000544503	nonsynonymous SNV	exon3	c.A180T	p.Q60H	GGMEGPEGLGRKQACLAMLLHFLDT	GGMEGPEGLGRKHACLAMLLHFLDT	9.0	4.0	-	-	4298_17:38340517-38340517 A>T_GGMEGPEGLGRKHACLAMLLHFLDT
20:50290837-50290837 A>T	1.0	4298	RECTAL	-	-	-	-	ATP9A	uc010gih.1,p.L162M|ENST00000311637,p.L162M|uc002xwg.1,p.L298M|ENST00000402822,p.L177M|ENST00000338821,p.L298M|NM_006045,p.L298M	protein_coding, processed_transcript	uc010gih.1	nonsynonymous SNV	exon6	c.T484A	p.L162M	TSNPRSKIGLFDLEVNCLTKILFGA	TSNPRSKIGLFDMEVNCLTKILFGA	9.0	2.0	-	-	4298_20:50290837-50290837 A>T_TSNPRSKIGLFDMEVNCLTKILFGA
5:112128180-112128180 ->A	1.0	4298	RECTAL	-	-	-	1	APC	NM_000038,p.I228fs|uc003kpz.4,p.I228fs|uc003kpy.4,p.I228fs|ENST00000457016,p.I228fs|ENST00000508376,p.I228fs|ENST00000257430,p.I228fs|NM_001127510,p.I228fs|ENST00000508624,p.I228fs|ENST00000512211,p.I228fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003kpz.4	frameshift insertion	exon8	c.684dupA	p.I228fs	RRIARIQQIEKDILRIRQLLQSQAT	RRIARIQQIEKDITSYTTAFTVPSNRSREVISEQA	8.0	10.0	-	-	4298_5:112128180-112128180 ->A_RRIARIQQIEKDITSYTTAFTVPSNRSREVISEQA
20:45856005-45856005 T>G	1.0	4298	RECTAL	-	-	-	-	ZMYND8	NM_001281777,p.E915A|uc010zxz.1,p.E834A|NM_001281771,p.E834A|uc002xtf.1,p.E986A|NM_001281776,p.E859A|NM_012408,p.E940A|ENST00000458360,p.E834A|uc002xta.1,p.E966A|ENST00000446994,p.E857A|uc002xsx.1,p.E672A|uc002xtb.1,p.E940A|ENST00000540497,p.E914A|NM_183047,p.E940A|uc002xsz.1,p.E857A|uc002xte.1,p.E920A|NM_001281775,p.E986A|uc002xss.2,p.E966A|uc010zxy.1,p.E993A|uc002xsu.1,p.E839A|ENST00000461685,p.E940A|uc002xst.1,p.E848A|NM_183048,p.E915A|NM_001281783,p.E986A|uc002xsy.1,p.E895A|uc002xsr.1,p.E65A|ENST00000536340,p.E993A|NM_001281778,p.E961A|ENST00000262975,p.E920A|uc002xsw.1,p.E672A|NM_001281780,p.E672A|NM_001281774,p.E920A|uc010ghq.1,p.E597A|NM_001281784,p.E914A|NM_001281773,p.E966A|uc002xtc.1,p.E940A|NM_001281779,p.E672A|NM_001281781,p.E868A|uc010zya.1,p.E966A|ENST00000355972,p.E966A|ENST00000471951,p.E986A|ENST00000352431,p.E940A|ENST00000311275,p.E966A|ENST00000360911,p.E915A|uc002xsv.1,p.E894A|ENST00000396281,p.E966A|NM_001281772,p.E966A|uc002xtd.1,p.E915A	protein_coding, processed_transcript	uc010zya.1	nonsynonymous SNV	exon19	c.A2897C	p.E966A	GSTIAEIRRLRIEIEKLQWLHQQEL	GSTIAEIRRLRIAIEKLQWLHQQEL	10.0	2.0	-	-	4298_20:45856005-45856005 T>G_GSTIAEIRRLRIAIEKLQWLHQQEL
7:5427837-5427837 C>T	1.0	4298	RECTAL	-	-	ID=COSM1229991,COSM1229992;OCCURENCE=1(large_intestine)	-	TNRC18	uc003soi.4,p.A540T|ENST00000399537,p.A540T|uc010ksx.1,p.A466T|ENST00000430969,p.A540T|NM_001080495,p.A540T	retained_intron, protein_coding	uc010ksx.1	nonsynonymous SNV	exon5	c.G1396A	p.A466T	AQHHHSRAEEEAAVVAASSSKKAYL	AQHHHSRAEEEATVVAASSSKKAYL	10.0	10.0	-	-	4298_7:5427837-5427837 C>T_AQHHHSRAEEEATVVAASSSKKAYL
6:107390917-107390917 G>A	1.0	4298	RECTAL	-	-	-	-	BEND3	ENST00000429433,p.P493L|uc003prs.2,p.P493L|NM_001080450,p.P493L|ENST00000369042,p.P493L	protein_coding	uc003prs.2	nonsynonymous SNV	exon5	c.C1478T	p.P493L	EGLGLDAGSEGDPPRDDCYDSSSLP	EGLGLDAGSEGDLPRDDCYDSSSLP	5.0	10.0	-	-	4298_6:107390917-107390917 G>A_EGLGLDAGSEGDLPRDDCYDSSSLP
12:109999588-109999588 A>C	0.0	4298	RECTAL	-	-	-	-	MMAB	ENST00000545712,p.L140V|ENST00000540016,p.L88V|uc001tou.3,p.L140V|ENST00000541763,p.L140V|uc010sxq.2,p.L49V|ENST00000537496,p.L140V|NM_052845,p.L140V|ENST00000266839,p.L49V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sxq.2	nonsynonymous SNV	exon6	c.T145G	p.L49V	LATPCSSAREAHLKYTTFKAGPILE	LATPCSSAREAHVKYTTFKAGPILE	10.0	3.0	-	-	4298_12:109999588-109999588 A>C_LATPCSSAREAHVKYTTFKAGPILE
10:51226216-51226216 C>T	1.0	4298	RECTAL	-	-	-	-	PARG	uc009xom.4,p.G171S|uc021pqg.2,p.G256S|ENST00000602930,p.G240S|ENST00000425119,p.G256S|uc001jik.4,p.G240S|uc001jij.4,p.G256S|uc010qgy.3,p.G279S	protein_coding, processed_transcript	uc021pqg.2	nonsynonymous SNV	exon7	c.G766A	p.G256S	KAPENHADTIGSGRAIPIKQGMLLK	KAPENHADTIGSSRAIPIKQGMLLK	10.0	9.0	-	-	4298_10:51226216-51226216 C>T_KAPENHADTIGSSRAIPIKQGMLLK
3:122404155-122404155 T>G	1.0	4298	RECTAL	-	-	-	-	PARP14	NM_017554,p.L104R|ENST00000474629,p.L104R|uc003efq.4,p.L104R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003efq.4	nonsynonymous SNV	exon2	c.T311G	p.L104R	TPDEIDHVFEEELLTKESKTKEDVK	TPDEIDHVFEEERLTKESKTKEDVK	9.0	5.0	-	-	4298_3:122404155-122404155 T>G_TPDEIDHVFEEERLTKESKTKEDVK
17:7577096-7577097 TC>-	1.0	4298	RECTAL	-	-	-	1	TP53	uc002gii.2,p.D122fs|uc002gij.3,p.D242fs|NM_000546,p.D281fs|ENST00000269305,p.D281fs|NM_001276696,p.D242fs|NM_001276760,p.D242fs|ENST00000445888,p.D281fs|uc002gim.3,p.D281fs|ENST00000420246,p.D281fs|ENST00000359597,p.D281fs|NM_001126118,p.D242fs|NM_001126113,p.D281fs|uc031qyq.1,p.D242fs|uc010cnh.2,p.D281fs|NM_001276698,p.D122fs|uc010cnf.2,p.D122fs|NM_001126114,p.D281fs|NM_001126112,p.D281fs|NM_001126115,p.D149fs|NM_001276695,p.D242fs|uc010cni.2,p.D281fs|uc002gih.3,p.D281fs|NM_001276761,p.D242fs|NM_001126117,p.D149fs|ENST00000509690,p.D149fs|uc010cng.2,p.D122fs|NM_001276699,p.D122fs|NM_001126116,p.D149fs|ENST00000455263,p.D281fs|NM_001276697,p.D122fs	retained_intron, protein_coding, processed_transcript	uc031qyq.1	frameshift deletion	exon7	c.724_725del	p.D242fs	SFEVRVCACPGRDRRTEEENLRKKG	SFEVRVCACPGRPAHRGRESPQERGASPRAAPREH	8.0	10.0	-	-	4298_17:7577096-7577097 TC>-_SFEVRVCACPGRPAHRGRESPQERGASPRAAPREH
19:48003990-48003990 G>T	1.0	4298	RECTAL	-	-	-	-	NAPA	NM_003827,p.F65L|uc002phd.2,p.F65L|ENST00000263354,p.F65L|ENST00000597118,p.F15L|uc002pha.2,p.F65L|uc002phe.3,p.F65L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002phe.3	nonsynonymous SNV	exon3	c.C195A	p.F65L	KMAKNWSAAGNAFCQAAQLHLQLQS	KMAKNWSAAGNALCQAAQLHLQLQS	9.0	6.0	-	-	4298_19:48003990-48003990 G>T_KMAKNWSAAGNALCQAAQLHLQLQS
7:138864373-138864373 C>A	1.0	4298	RECTAL	-	-	-	-	TTC26	ENST00000430935,p.S432R|NM_001144920,p.S432R|ENST00000464848,p.S432R|ENST00000495038,p.S301R|NM_001287512,p.S301R|uc011kqo.1,p.S401R|uc011kqq.1,p.S301R|uc011kqp.1,p.S327R|uc003vus.2,p.S432R|uc003vut.2,p.S292R|NM_001144923,p.S401R|ENST00000343187,p.S401R|ENST00000478836,p.S325R|uc011kqn.1,p.S432R|NM_024926,p.S432R|NM_001287513,p.S327R	protein_coding, processed_transcript, nonsense_mediated_decay	uc011kqq.1	nonsynonymous SNV	exon12	c.C903A	p.S301R	QSEKMKNDYIYLSWLARCYIMNKKP	QSEKMKNDYIYLRWLARCYIMNKKP	5.0	4.0	-	-	4298_7:138864373-138864373 C>A_QSEKMKNDYIYLRWLARCYIMNKKP
17:3567983-3567983 T>G	1.0	4298	RECTAL	-	-	-	-	TAX1BP3	uc021tnt.1,p.K50T|NM_001204698,p.K50T	protein_coding	uc021tnt.1	nonsynonymous SNV	exon2	c.A149C	p.K50T	DQDPSQNPFSEDKTDKVNGWDMTMV	DQDPSQNPFSEDTTDKVNGWDMTMV	8.0	7.0	-	-	4298_17:3567983-3567983 T>G_DQDPSQNPFSEDTTDKVNGWDMTMV
2:220088634-220088634 G>A	1.0	4298	RECTAL	-	-	-	-	ATG9A	NM_024085,p.S459L|uc002vkf.1,p.S459L|NM_001077198,p.S459L|ENST00000409422,p.S398L|ENST00000396761,p.S459L|ENST00000429920,p.S18L|ENST00000361242,p.S459L|uc002vke.1,p.S459L|ENST00000409618,p.S459L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002vkf.1	nonsynonymous SNV	exon8	c.C1376T	p.S459L	YMPDHWQGNAHRSQTRDEFAQLFQY	YMPDHWQGNAHRLQTRDEFAQLFQY	8.0	1.0	-	-	4298_2:220088634-220088634 G>A_YMPDHWQGNAHRLQTRDEFAQLFQY
15:34674006-34674006 C>T	1.0	4298	RECTAL	-	rs238639	-	-	GOLGA8A	uc001zih.3,p.S358N|ENST00000432566,p.S532N|ENST00000360553,p.S502N|uc001zii.3,p.S502N|ENST00000359187,p.S502N|ENST00000543376,p.S359N|NM_181077,p.S502N	retained_intron, protein_coding, processed_transcript	uc001zii.3	nonsynonymous SNV	exon15	c.G1505A	p.S502N	AAGDGVAACGSYSEGHGKFLAAARN	AAGDGVAACGSYNEGHGKFLAAARN	10.0	9.0	-	-	4298_15:34674006-34674006 C>T_AAGDGVAACGSYNEGHGKFLAAARN
20:8782764-8782764 A>C	1.0	4298	RECTAL	-	-	-	-	PLCB1	NM_182734,p.N1162T|uc002wna.4,p.N1162T|ENST00000378641,p.N1162T|ENST00000378637,p.N1162T	protein_coding, processed_transcript, nonsense_mediated_decay	uc002wna.4	nonsynonymous SNV	exon32	c.A3485C	p.N1162T	SETCHEDPSVSPNFTPPNPQALKW	SETCHEDPSVSPTFTPPNPQALKW	7.0	2.0	-	-	4298_20:8782764-8782764 A>C_SETCHEDPSVSPTFTPPNPQALKW
16:67763731-67763731 C>A	1.0	4298	RECTAL	-	-	-	-	RANBP10	uc010ceo.3,p.K104N|ENST00000602677,p.K333N|ENST00000411657,p.K216N|uc002eud.3,p.K333N|ENST00000448631,p.K277N|uc010vjv.2,p.K216N|NM_020850,p.K333N|ENST00000536251,p.K104N|uc010vju.2,p.K277N|ENST00000317506,p.K333N	protein_coding	uc010vjv.2	nonsynonymous SNV	exon8	c.G648T	p.K216N	LLEHNPNLLFMLKCRQFVEMVNGTD	LLEHNPNLLFMLNCRQFVEMVNGTD	8.0	10.0	-	-	4298_16:67763731-67763731 C>A_LLEHNPNLLFMLNCRQFVEMVNGTD
X:41390400-41390400 C>G	0.0	4298	RECTAL	-	-	-	-	CASK	ENST00000442742,p.D766H|ENST00000421587,p.D765H|uc004dfm.4,p.D766H|NM_001126055,p.D765H|ENST00000318588,p.D789H|ENST00000378179,p.D386H|ENST00000378168,p.D249H|uc004dfl.4,p.D789H|ENST00000378163,p.D794H|uc004dfn.4,p.D765H|ENST00000361962,p.D777H|NM_001126054,p.D766H|ENST00000378158,p.D777H|ENST00000378166,p.D789H|NM_003688,p.D789H|uc004dfj.4,p.D334H|uc004dfk.4,p.D609H	protein_coding, processed_transcript	uc004dfn.4	nonsynonymous SNV	exon23	c.G2293C	p.D765H	EENGKNYYFVSHDQMMQDISNNEYL	EENGKNYYFVSHHQMMQDISNNEYL	10.0	1.0	-	-	4298_X:41390400-41390400 C>G_EENGKNYYFVSHHQMMQDISNNEYL
16:31927242-31927242 C>A	0.0	4298	RECTAL	-	-	-	-	ZNF267	NM_001265588,p.P526T|ENST00000300870,p.P558T|uc031qvx.1,p.P526T|uc031qvw.1,p.P302T|NM_003414,p.P558T|uc002ecs.5,p.P558T	protein_coding, nonsense_mediated_decay	uc031qvx.1	nonsynonymous SNV	exon5	c.C1576A	p.P526T	KPYKCKECGKAFPYSSHLIRHHRIH	KPYKCKECGKAFTYSSHLIRHHRIH	9.0	8.0	-	-	4298_16:31927242-31927242 C>A_KPYKCKECGKAFTYSSHLIRHHRIH
9:35091403-35091403 C>A	0.0	4298	RECTAL	-	-	-	-	PIGO	ENST00000378617,p.Q827H|NM_032634,p.Q827H|uc003zwg.2,p.Q390H|ENST00000341666,p.Q827H|uc003zwd.3,p.Q827H	protein_coding, processed_transcript	uc003zwg.2	nonsynonymous SNV	exon3	c.G1170T	p.Q390H	TKSQGPLTVAAYQLGSVYSAAMVTA	TKSQGPLTVAAYHLGSVYSAAMVTA	7.0	4.0	-	-	4298_9:35091403-35091403 C>A_TKSQGPLTVAAYHLGSVYSAAMVTA
10:129906115-129906115 T>G	0.0	4298	RECTAL	-	-	-	-	MKI67	NM_002417,p.K1330T|ENST00000368653,p.K970T|uc009yav.1,p.K905T|NM_001145966,p.K970T|ENST00000368654,p.K1330T|uc009yaw.1,p.K480T|uc001lke.3,p.K1330T|uc001lkf.3,p.K970T	protein_coding, processed_transcript	uc009yaw.1	nonsynonymous SNV	exon2	c.A1439C	p.K480T	QKLDLTENLTGSKRRPQTPKEEAQA	QKLDLTENLTGSTRRPQTPKEEAQA	10.0	1.0	-	-	4298_10:129906115-129906115 T>G_QKLDLTENLTGSTRRPQTPKEEAQA
2:144899585-144899585 T>A	0.0	4298	RECTAL	-	-	ID=COSM570044;OCCURENCE=1(lung)	-	GTDC1	NM_001284233,p.N129Y|uc002tvp.3,p.N129Y|NM_001006636,p.N129Y|uc021vqg.1,p.N129Y|ENST00000241391,p.N129Y|ENST00000392867,p.N129Y|uc002tvr.3,p.N129Y|ENST00000392871,p.N129Y|uc002tvs.3,p.N97Y|uc021vqf.1,p.N129Y|ENST00000392869,p.N129Y|ENST00000542155,p.N129Y|NM_024659,p.N129Y|NM_001284238,p.N97Y|uc002tvo.3,p.N129Y|ENST00000437114,p.N129Y|ENST00000409214,p.N129Y|NM_001284235,p.N129Y|ENST00000344850,p.N129Y|NM_001164629,p.N129Y|uc010fnn.3,p.N129Y|uc002tvt.2,p.N129Y|ENST00000409298,p.N129Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021vqg.1	nonsynonymous SNV	exon8	c.A385T	p.N129Y	LVADVVVFNSVFNMESFLTSMGKFM	LVADVVVFNSVFYMESFLTSMGKFM	7.0	4.0	-	-	4298_2:144899585-144899585 T>A_LVADVVVFNSVFYMESFLTSMGKFM
17:58022867-58022867 G>A	0.0	4298	RECTAL	-	-	-	-	RPS6KB1	ENST00000406116,p.R443Q|uc010ddj.3,p.R443Q|NM_001272043,p.R443Q	retained_intron, nonsense_mediated_decay, processed_transcript, protein_coding	uc010ddj.3	nonsynonymous SNV	exon14	c.G1328A	p.R443Q	KIRSPRRFIGSPRTPVSTAMC	KIRSPRRFIGSPQTPVSTAMC	9.0	1.0	-	-	4298_17:58022867-58022867 G>A_KIRSPRRFIGSPQTPVSTAMC
3:108344713-108344713 A>-	1.0	4298	RECTAL	-	-	-	-	DZIP3	ENST00000479138,p.K160fs|NM_014648,p.K160fs|ENST00000486815,p.K76fs|ENST00000361582,p.K160fs|ENST00000495008,p.K160fs|uc003dxe.1,p.K160fs|uc003dxd.3,p.K160fs|uc003dxf.1,p.K160fs|ENST00000463306,p.K160fs	protein_coding, nonsense_mediated_decay	uc003dxf.1	frameshift deletion	exon7	c.478delA	p.K160fs	RGKKEDYTEAENKFLVMKMMIQENE	RGKKEDYTEAENNFW	6.0	9.0	-	-	4298_3:108344713-108344713 A>-_RGKKEDYTEAENNFW
9:109690472-109690472 G>T	1.0	4298	RECTAL	-	-	-	-	ZNF462	NM_021224,p.V1427L|ENST00000441147,p.V272L|ENST00000277225,p.V1427L|ENST00000457913,p.V1427L|ENST00000374686,p.V310L|uc004bcz.3,p.V1427L|uc004bda.3,p.V1275L|uc010mto.3,p.V1275L	protein_coding, processed_transcript	uc010mto.3	nonsynonymous SNV	exon1	c.G3823T	p.V1275L	KPILSSEELAGPVNCENSIPTPFPE	KPILSSEELAGPLNCENSIPTPFPE	9.0	9.0	-	-	4298_9:109690472-109690472 G>T_KPILSSEELAGPLNCENSIPTPFPE
11:128350122-128350122 G>C	0.0	4298	RECTAL	-	-	-	-	ETS1	NM_001162422,p.P103A|ENST00000392668,p.P363A|uc009zch.2,p.P103A|ENST00000319397,p.P319A|ENST00000535549,p.P103A|uc001qej.2,p.P363A|NM_001143820,p.P363A|uc010sbs.1,p.P319A|NM_005238,p.P319A	retained_intron, protein_coding, processed_transcript	uc010sbs.1	nonsynonymous SNV	exon6	c.C955G	p.P319A	YVRDRADLNKDKPVIPAAALAGYTG	YVRDRADLNKDKAVIPAAALAGYTG	9.0	3.0	-	-	4298_11:128350122-128350122 G>C_YVRDRADLNKDKAVIPAAALAGYTG
2:234394540-234394540 G>A	1.0	4298	RECTAL	-	-	ID=COSM1018030,COSM1018029;OCCURENCE=1(endometrium)	-	USP40	ENST00000450966,p.A1105V|ENST00000251722,p.A1093V|ENST00000427112,p.A1093V|uc010zms.1,p.A203V|NM_018218,p.A1105V|uc010zmr.2,p.A1105V|uc002vul.3,p.A89V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zms.1	nonsynonymous SNV	exon7	c.C608T	p.A203V	RTYAPALDLVWNAAQGGTAGSLRQR	RTYAPALDLVWNVAQGGTAGSLRQR	8.0	8.0	-	-	4298_2:234394540-234394540 G>A_RTYAPALDLVWNVAQGGTAGSLRQR
12:25398284-25398284 C>T	1.0	4298	RECTAL	-	-	ID=COSM521,COSM1135366;OCCURENCE=1(salivary_gland),171(endometrium),265(ovary),20(soft_tissue),19(urinary_tract),1(kidney),2323(pancreas),15(liver),3(eye),22(prostate),321(biliary_tract),6237(large_intestine),18(breast),24(skin),58(small_intestine),25(upper_aerodigestive_tract),10(oesophagus),4(central_nervous_system),93(stomach),2(testis),19(cervix),114(haematopoietic_and_lymphoid_tissue),15(gastrointestinal_tract_(site_indeterminate)),37(thyroid),737(lung),25(peritoneum)	1	KRAS	uc001rgq.1,p.G12D|ENST00000557334,p.G12D|NM_033360,p.G12D|ENST00000311936,p.G12D|ENST00000256078,p.G12D|NM_004985,p.G12D|uc001rgp.1,p.G12D|ENST00000556131,p.G12D	protein_coding	uc001rgq.1	nonsynonymous SNV	exon2	c.G35A	p.G12D	MTEYKLVVVGAGGVGKSALTIQLI	MTEYKLVVVGADGVGKSALTIQLI	7.0	9.0	-	-	4298_12:25398284-25398284 C>T_MTEYKLVVVGADGVGKSALTIQLI
22:36722620-36722620 T>A	1.0	4298	RECTAL	-	-	-	1	MYH9	NM_002473,p.K202M|ENST00000216181,p.K202M|uc003apg.3,p.K202M|uc003aph.1,p.K66M	retained_intron, protein_coding, processed_transcript	uc003aph.1	nonsynonymous SNV	exon3	c.A197T	p.K66M	YLAYVASSHKSKKDQGELERQLLQA	YLAYVASSHKSKMDQGELERQLLQA	10.0	5.0	-	-	4298_22:36722620-36722620 T>A_YLAYVASSHKSKMDQGELERQLLQA
8:128752923-128752923 T>G	1.0	4298	RECTAL	-	-	-	1	MYC	ENST00000524013,p.S361A|NM_002467,p.S362A|uc003ysi.3,p.S362A|ENST00000377970,p.S362A	protein_coding	uc003ysi.3	nonsynonymous SNV	exon3	c.T1084G	p.S362A	QISNNRKCTSPRSSDTEENVKRRTH	QISNNRKCTSPRASDTEENVKRRTH	10.0	9.0	-	-	4298_8:128752923-128752923 T>G_QISNNRKCTSPRASDTEENVKRRTH
19:34973507-34973507 G>C	0.0	4298	RECTAL	-	-	-	-	WTIP	ENST00000270288,p.E434Q|NM_001080436,p.E210Q|ENST00000590071,p.E210Q|uc002nvm.3,p.E210Q	protein_coding	uc002nvm.3	nonsynonymous SNV	exon1	c.G628C	p.E210Q	AERRLEALTRELERALEARTARDYF	AERRLEALTRELQRALEARTARDYF	7.0	2.0	-	-	4298_19:34973507-34973507 G>C_AERRLEALTRELQRALEARTARDYF
8:143570702-143570702 C>T	1.0	4298	RECTAL	0.0005	-	-	-	BAI1	uc003ywm.3,p.T845M|ENST00000521208,p.T845M|ENST00000323289,p.T845M|ENST00000517894,p.T845M|NM_001702,p.T845M	retained_intron, protein_coding, nonsense_mediated_decay	uc003ywm.3	nonsynonymous SNV	exon15	c.C2534T	p.T845M	RNLGSFLALQRNTTVLNSKVISVTV	RNLGSFLALQRNMTVLNSKVISVTV	5.0	9.0	-	-	4298_8:143570702-143570702 C>T_RNLGSFLALQRNMTVLNSKVISVTV
5:140256696-140256696 A>T	1.0	4298	RECTAL	-	-	-	-	PCDHA12	uc003lic.2,p.S547C|NM_031864,p.S547C|uc011daf.2,p.S547C|NM_018903,p.S547C|ENST00000398631,p.S547C	protein_coding	uc011daf.2	nonsynonymous SNV	exon1	c.A1639T	p.S547C	VSARDAGVPPLGSNVTLQVFVLDEN	VSARDAGVPPLGCNVTLQVFVLDEN	5.0	5.0	-	-	4298_5:140256696-140256696 A>T_VSARDAGVPPLGCNVTLQVFVLDEN
7:48311901-48311901 G>C	1.0	4298	RECTAL	-	-	-	-	ABCA13	uc003toq.2,p.D880H|ENST00000435803,p.D880H|NM_152701,p.D880H|uc010kyr.2,p.D383H	retained_intron, protein_coding, nonsense_mediated_decay	uc010kyr.2	nonsynonymous SNV	exon18	c.G1147C	p.D383H	STSFNFSQLFHSDWPKSPAMNIDFV	STSFNFSQLFHSHWPKSPAMNIDFV	4.0	1.0	-	-	4298_7:48311901-48311901 G>C_STSFNFSQLFHSHWPKSPAMNIDFV
6:152841613-152841613 T>G	0.0	4298	RECTAL	-	-	-	-	SYNE1	ENST00000367248,p.K97T|uc003qot.4,p.K97T|uc031sql.1,p.K97T|ENST00000423061,p.K97T|ENST00000448038,p.K97T|NM_033071,p.K97T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031sql.1	nonsynonymous SNV	exon6	c.A290C	p.K97T	RIHAVANIGTALKFLEGRKSMHRGS	RIHAVANIGTALTFLEGRKSMHRGS	8.0	5.0	-	-	4298_6:152841613-152841613 T>G_RIHAVANIGTALTFLEGRKSMHRGS
2:71212240-71212240 T>A	0.0	4298	RECTAL	-	-	-	-	ANKRD53	ENST00000360589,p.M468K|NM_001115116,p.M468K|uc002shl.4,p.M468K|ENST00000457410,p.M434K	retained_intron, protein_coding	uc002shl.4	nonsynonymous SNV	exon6	c.T1403A	p.M468K	LRMLYPRVWPYRMKVPQGFYPISMR	LRMLYPRVWPYRKKVPQGFYPISMR	2.0	4.0	-	-	4298_2:71212240-71212240 T>A_LRMLYPRVWPYRKKVPQGFYPISMR
19:9921586-9921586 C>T	1.0	4298	RECTAL	-	-	-	-	FBXL12	uc002mme.3,p.D323N|ENST00000591009,p.D270N|uc002mmd.3,p.D270N|ENST00000247977,p.D323N|uc002mmg.3,p.D270N|ENST00000585379,p.D270N|NM_017703,p.D323N|uc002mmf.3,p.D270N	protein_coding, nonsense_mediated_decay	uc002mmg.3	nonsynonymous SNV	exon3	c.G808A	p.D270N	MVIVRACPKESMDWWM	MVIVRACPKESMNWWM	6.0	10.0	-	-	4298_19:9921586-9921586 C>T_MVIVRACPKESMNWWM
17:58022867-58022867 G>A	0.0	4298	RECTAL	-	-	-	-	RPS6KB1	NM_001272044,p.R390Q|uc010wom.3,p.R390Q|NM_001272060,p.R420Q|NM_003161,p.R443Q|uc010woo.2,p.R378Q|NM_001272042,p.R420Q|uc010won.3,p.R420Q|uc002ixy.4,p.R443Q|ENST00000443572,p.R420Q|ENST00000393021,p.R390Q|ENST00000225577,p.R443Q	retained_intron, nonsense_mediated_decay, processed_transcript, protein_coding	uc010woo.2	nonsynonymous SNV	exon12	c.G1133A	p.R378Q	KIRSPRRFIGSPRTPVSPVKFSPGD	KIRSPRRFIGSPQTPVSPVKFSPGD	9.0	1.0	-	-	4298_17:58022867-58022867 G>A_KIRSPRRFIGSPQTPVSPVKFSPGD
12:4479657-4479657 G>A	0.0	4298	RECTAL	-	-	-	-	FGF23	ENST00000237837,p.P203L|NM_020638,p.P203L|uc001qmq.1,p.P203L	protein_coding	uc001qmq.1	nonsynonymous SNV	exon3	c.C608T	p.P203L	NVLKPRARMTPAPASCSQELPSAED	NVLKPRARMTPALASCSQELPSAED	3.0	9.0	-	-	4298_12:4479657-4479657 G>A_NVLKPRARMTPALASCSQELPSAED
5:88056882-88056882 G>C	0.0	4298	RECTAL	-	-	-	-	MEF2C	ENST00000424173,p.L107V|ENST00000506716,p.L107V|uc003kjm.3,p.L107V|ENST00000513252,p.L107V|uc003kjl.3,p.L127V|ENST00000340208,p.L127V|NM_001131005,p.L107V|NM_001193347,p.L127V|ENST00000507984,p.L107V	retained_intron, protein_coding, processed_transcript	uc003kjm.3	nonsynonymous SNV	exon5	c.C319G	p.L107V	GCESPDPDSSYALTPRTEEKYKKIN	GCESPDPDSSYAVTPRTEEKYKKIN	9.0	3.0	-	-	4298_5:88056882-88056882 G>C_GCESPDPDSSYAVTPRTEEKYKKIN
X:78618095-78618095 G>T	0.0	4298	RECTAL	-	-	-	-	ITM2A	uc011mqr.2,p.L135I|ENST00000434584,p.L135I|NM_001171581,p.L135I|NM_004867,p.L179I|uc004edh.3,p.L179I|ENST00000373298,p.L179I	protein_coding, processed_transcript	uc011mqr.2	nonsynonymous SNV	exon3	c.C403A	p.L135I	TSIVMPPKNLVELFGKLASGRYLPQ	TSIVMPPKNLVEIFGKLASGRYLPQ	8.0	10.0	-	-	4298_X:78618095-78618095 G>T_TSIVMPPKNLVEIFGKLASGRYLPQ
15:32738755-32738757 CTC>-	0.0	4298	RECTAL	-	-	-	-	GOLGA8O	NM_001277308,p.429_430del|ENST00000509311,p.429_430del|uc031qrg.1,p.429_430del	protein_coding	uc031qrg.1	nonframeshift deletion	exon15	c.1286_1288del	p.429_430del	LSLMALPGEGHGGEHLDSEGEEAPR	LSLMALPGEGHGEHLDSEGEEAPRP	9.0	1.0	-	-	4298_15:32738755-32738757 CTC>-_LSLMALPGEGHGEHLDSEGEEAPRP
6:152841613-152841613 T>G	0.0	4298	RECTAL	-	-	-	-	SYNE1	uc003qou.4,p.K97T|ENST00000413186,p.K97T|ENST00000537750,p.K97T|ENST00000367255,p.K97T|ENST00000466159,p.K97T|NM_182961,p.K97T|ENST00000265368,p.K97T|uc010kjb.1,p.K97T|ENST00000341594,p.K97T|uc003qpa.1,p.K97T|ENST00000367253,p.K97T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kjb.1	nonsynonymous SNV	exon5	c.A290C	p.K97T	RIHAVANIGTALKFLEGRKIKLVNI	RIHAVANIGTALTFLEGRKIKLVNI	8.0	5.0	-	-	4298_6:152841613-152841613 T>G_RIHAVANIGTALTFLEGRKIKLVNI
3:121383831-121383831 G>A	1.0	4298	RECTAL	-	-	-	-	GOLGB1	NM_001256488,p.S3121F|NM_004487,p.S3196F|NM_001256487,p.S3162F|ENST00000393667,p.S3206F|ENST00000340645,p.S3196F|uc003eei.5,p.S3196F|NM_001256486,p.S3206F|uc010hrc.4,p.S3206F|uc003eej.5,p.S3162F|uc021xcy.2,p.S3121F	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xcy.2	nonsynonymous SNV	exon20	c.C9362T	p.S3121F	SEWDSSRTPIIGSCGTQEQALLIDL	SEWDSSRTPIIGFCGTQEQALLIDL	8.0	3.0	-	-	4298_3:121383831-121383831 G>A_SEWDSSRTPIIGFCGTQEQALLIDL
1:894319-894319 G>A	1.0	4298	RECTAL	-	-	-	-	NOC2L	ENST00000327044,p.P57S|NM_015658,p.P57S|uc001abz.4,p.P57S|uc009vjq.3,p.P57S	retained_intron, protein_coding, processed_transcript	uc009vjq.3	nonsynonymous SNV	exon2	c.C169T	p.P57S	EAARSPDKPGGSPSASRRKGRASEH	EAARSPDKPGGSSSASRRKGRASEH	10.0	4.0	-	-	4298_1:894319-894319 G>A_EAARSPDKPGGSSSASRRKGRASEH
9:126150054-126150054 C>A	0.0	4298	RECTAL	-	-	-	-	DENND1A	ENST00000394219,p.S522I|uc011lzl.1,p.S329I|uc004bny.1,p.S293I|ENST00000542603,p.S296I|uc011lzm.1,p.S522I	protein_coding, processed_transcript	uc011lzm.1	nonsynonymous SNV	exon19	c.G1565T	p.S522I	SSDDECQREEGPSSGFTESFFFSAP	SSDDECQREEGPISGFTESFFFSAP	8.0	4.0	-	-	4298_9:126150054-126150054 C>A_SSDDECQREEGPISGFTESFFFSAP
5:32276848-32276848 C>T	0.0	4298	RECTAL	-	-	-	-	MTMR12	NM_001294344,p.E28K|uc003jhq.3,p.E28K|NM_001040446,p.E28K|ENST00000280285,p.E28K|ENST00000264934,p.E28K|uc010iul.3,p.E28K|ENST00000382142,p.E28K|uc010iuk.3,p.E28K|NM_001294343,p.E28K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010iul.3	nonsynonymous SNV	exon2	c.G82A	p.E28K	PKPSFVSYVRPEEIHTNEKEVTEKE	PKPSFVSYVRPEKIHTNEKEVTEKE	7.0	5.0	-	-	4298_5:32276848-32276848 C>T_PKPSFVSYVRPEKIHTNEKEVTEKE
9:136280096-136280096 C>G	0.0	4298	RECTAL	-	-	-	-	REXO4	uc004cdm.3,p.K87N|ENST00000371942,p.K87N|ENST00000453165,p.K72N|NM_020385,p.K87N	protein_coding, processed_transcript	uc004cdm.3	nonsynonymous SNV	exon2	c.G261C	p.K87N	EWLLKQKSQAPEKPLVISQMGSKKK	EWLLKQKSQAPENPLVISQMGSKKK	8.0	2.0	-	-	4298_9:136280096-136280096 C>G_EWLLKQKSQAPENPLVISQMGSKKK
2:177036373-177036373 C>T	0.0	4298	RECTAL	-	-	-	-	HOXD3	ENST00000410016,p.R224C|ENST00000249440,p.R224C|uc002ukt.1,p.R224C|ENST00000468418,p.R224C|NM_006898,p.R224C	protein_coding, processed_transcript	uc002ukt.1	nonsynonymous SNV	exon3	c.C670T	p.R224C	EFHFNRYLCRPRRVEMANLLNLTER	EFHFNRYLCRPRCVEMANLLNLTER	2.0	8.0	-	-	4298_2:177036373-177036373 C>T_EFHFNRYLCRPRCVEMANLLNLTER
8:42186645-42186645 A>C	1.0	4298	RECTAL	-	-	-	1	IKBKB	ENST00000416505,p.E647D|NM_001242778,p.E647D|uc003xow.2,p.E706D|NM_001190720,p.E704D|uc003xox.2,p.E427D|uc022auj.1,p.E31D|NM_001556,p.E706D|ENST00000520835,p.E704D|uc011lcq.2,p.E704D|uc010lxj.2,p.E483D|ENST00000379708,p.E483D|ENST00000520810,p.E706D|uc011lcr.2,p.E647D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022auj.1	nonsynonymous SNV	exon2	c.A93C	p.E31D	ASNSLPEPAKKSEELVAEAHNLCTL	ASNSLPEPAKKSDELVAEAHNLCTL	10.0	2.0	-	-	4298_8:42186645-42186645 A>C_ASNSLPEPAKKSDELVAEAHNLCTL
2:196545578-196545578 G>A	1.0	4298	RECTAL	-	-	-	-	SLC39A10	NM_020342,p.R271H|ENST00000359634,p.R271H|ENST00000409086,p.R271H|uc002utg.4,p.R271H|NM_001127257,p.R271H|uc002uth.4,p.R271H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002uth.4	nonsynonymous SNV	exon2	c.G812A	p.R271H	EQYEHNRVHKPDRVHNPGHSHVHLP	EQYEHNRVHKPDHVHNPGHSHVHLP	7.0	10.0	-	-	4298_2:196545578-196545578 G>A_EQYEHNRVHKPDHVHNPGHSHVHLP
X:49845342-49845342 C>T	0.0	4298	RECTAL	-	-	-	-	CLCN5	NM_000084,p.A162V|uc004doq.1,p.A232V|NM_001282163,p.A182V|uc004dot.1,p.A162V|ENST00000376108,p.A162V|uc031tjo.1,p.A182V|ENST00000307367,p.A162V|ENST00000376088,p.A232V|ENST00000376091,p.A232V|uc004dor.1,p.A232V|uc004dos.1,p.A162V|NM_001127898,p.A232V|NM_001127899,p.A232V	protein_coding, processed_transcript	uc031tjo.1	nonsynonymous SNV	exon5	c.C545T	p.A182V	FAFLAVSLVKVFAPYACGSGIPEIK	FAFLAVSLVKVFVPYACGSGIPEIK	5.0	8.0	-	-	4298_X:49845342-49845342 C>T_FAFLAVSLVKVFVPYACGSGIPEIK
5:33458677-33458677 G>A	0.0	4298	RECTAL	-	-	-	-	TARS	uc003jhz.4,p.E227K|ENST00000455217,p.E364K|NM_001258437,p.E331K|uc031sja.1,p.E331K|uc011cod.3,p.E210K|uc011coc.3,p.E364K|ENST00000541634,p.E227K|NM_152295,p.E331K|ENST00000414361,p.E210K|uc010iup.2,p.E272K|NM_001258438,p.E364K|ENST00000265112,p.E331K|ENST00000502553,p.E331K|uc003jhy.4,p.E331K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031sja.1	nonsynonymous SNV	exon11	c.G991A	p.E331K	KNRDHRKIGRDQELYFFHELSPGSC	KNRDHRKIGRDQKLYFFHELSPGSC	9.0	6.0	-	-	4298_5:33458677-33458677 G>A_KNRDHRKIGRDQKLYFFHELSPGSC
15:86791015-86791015 T>G	0.0	4298	RECTAL	-	-	-	-	AGBL1	NM_152336,p.L168V|uc002blz.1,p.L168V|ENST00000441037,p.L168V|ENST00000421325,p.L168V	retained_intron, protein_coding	uc002blz.1	nonsynonymous SNV	exon6	c.T502G	p.L168V	DTANAYVQIRRGLLLCLRHIAALRS	DTANAYVQIRRGVLLCLRHIAALRS	5.0	1.0	-	-	4298_15:86791015-86791015 T>G_DTANAYVQIRRGVLLCLRHIAALRS
8:68145099-68145099 ->CAA	0.0	4298	RECTAL	-	-	-	-	ARFGEF1	NM_006421,p.A1124delinsVA|uc003xxn.2,p.A107delinsVA|ENST00000262215,p.A1124delinsVA|ENST00000520381,p.A578delinsVA|uc003xxo.2,p.A1124delinsVA|uc003xxl.1,p.A578delinsVA	retained_intron, protein_coding, processed_transcript	uc003xxo.2	nonframeshift insertion	exon23	c.3370_3371insTTG	p.A1124delinsVA	SIGETSSQSVVVAVDRIFTGSTRLD	SIGETSSQSVVVVAVDRIFTGSTRL	8.0	1.0	-	-	4298_8:68145099-68145099 ->CAA_SIGETSSQSVVVVAVDRIFTGSTRL
12:124311343-124311343 T>A	0.0	4298	RECTAL	-	-	-	-	DNAH10	ENST00000409039,p.V1312D|uc001uft.4,p.V1312D|NM_207437,p.V1312D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uft.4	nonsynonymous SNV	exon24	c.T3935A	p.V1312D	GFLRALRKLPRPVRGLSVTYYLEAK	GFLRALRKLPRPDRGLSVTYYLEAK	3.0	2.0	-	-	4298_12:124311343-124311343 T>A_GFLRALRKLPRPDRGLSVTYYLEAK
6:84417622-84417628 GATCCGT>-	0.0	4298	RECTAL	-	-	-	-	SNAP91	uc021zcf.1,p.T7fs|ENST00000428679,p.T7fs|ENST00000518312,p.T7fs|ENST00000520302,p.T7fs|ENST00000521931,p.T7fs|uc011dze.2,p.T7fs|NM_001242794,p.T7fs|ENST00000519779,p.T7fs|uc003pkd.3,p.T7fs|ENST00000369690,p.T7fs|ENST00000521743,p.T7fs|ENST00000523585,p.T7fs|ENST00000523199,p.T7fs|ENST00000437520,p.T7fs|ENST00000521616,p.T7fs|ENST00000518309,p.T7fs|NM_001242793,p.T7fs|uc003pka.3,p.T7fs|ENST00000519825,p.T7fs|ENST00000439399,p.T7fs|ENST00000521485,p.T7fs|ENST00000520213,p.T7fs|ENST00000369694,p.T7fs|NM_001242792,p.T7fs|NM_014841,p.T7fs|ENST00000195649,p.T7fs|ENST00000522248,p.T7fs|uc003pkc.3,p.T7fs|ENST00000523484,p.T7fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zcf.1	frameshift deletion	exon1	c.19_25del	p.T7fs	MSGQTLTDRIAAAQYSVTG	MSGQTLGSPPLSTALQALL	1.0	8.0	-	-	4298_6:84417622-84417628 GATCCGT>-_MSGQTLGSPPLSTALQALL
20:25485627-25485627 C>A	0.0	4298	RECTAL	-	-	-	-	NINL	uc010gdn.1,p.R202L|ENST00000278886,p.R202L|ENST00000422516,p.R202L|uc002wux.1,p.R202L|uc010gdo.1,p.R42L|NM_025176,p.R202L|uc010ztf.1,p.R218L	protein_coding, processed_transcript	uc010ztf.1	nonsynonymous SNV	exon6	c.G653T	p.R218L	CSPSFDTPESQIRGVWEELGVGSSG	CSPSFDTPESQILGVWEELGVGSSG	6.0	6.0	-	-	4298_20:25485627-25485627 C>A_CSPSFDTPESQILGVWEELGVGSSG
1:111060362-111060362 G>A	0.0	4298	RECTAL	0.0005	-	-	-	KCNA10	ENST00000369771,p.R350C|uc001dzt.1,p.R350C|NM_005549,p.R350C	protein_coding	uc001dzt.1	nonsynonymous SNV	exon1	c.C1048T	p.R350C	AILRIIRLVRVFRIFKLSRHSKGLQ	AILRIIRLVRVFCIFKLSRHSKGLQ	1.0	10.0	-	-	4298_1:111060362-111060362 G>A_AILRIIRLVRVFCIFKLSRHSKGLQ
3:128618203-128618203 G>A	1.0	4298	RECTAL	-	-	-	-	ACAD9	uc011bks.2,p.G113E|uc003elb.3,p.G113E|ENST00000308982,p.G236E|uc003elc.1,p.G54E|uc003ela.4,p.G236E|uc010hsw.1,p.G113E|NM_014049,p.G236E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bks.2	nonsynonymous SNV	exon7	c.G338A	p.G113E	TVFAKTEVVDSDGSVKDKITAFIVE	TVFAKTEVVDSDESVKDKITAFIVE	10.0	2.0	-	-	4298_3:128618203-128618203 G>A_TVFAKTEVVDSDESVKDKITAFIVE
16:26147468-26147468 G>A	0.0	4298	RECTAL	-	-	-	-	HS3ST4	uc002dof.3,p.V424I|ENST00000331351,p.V424I|NM_006040,p.V424I	protein_coding, processed_transcript	uc002dof.3	nonsynonymous SNV	exon2	c.G1270A	p.V424I	SKGRTHPRIDPDVIHRLRKFYKPFN	SKGRTHPRIDPDIIHRLRKFYKPFN	3.0	9.0	-	-	4298_16:26147468-26147468 G>A_SKGRTHPRIDPDIIHRLRKFYKPFN
17:16024507-16024507 C>T	1.0	4298	RECTAL	-	-	-	1	NCOR1	ENST00000395848,p.G462R|uc002gpp.1,p.G462R|uc002gpn.3,p.G571R|uc002gpo.3,p.G571R|ENST00000268712,p.G571R|uc002gpr.3,p.G462R|NM_001190440,p.G571R|ENST00000395851,p.G571R|NM_006311,p.G571R|NM_001190438,p.G462R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gpr.3	nonsynonymous SNV	exon13	c.G1384A	p.G462R	EETEEREQATPRGRKTANSQGRRKG	EETEEREQATPRRRKTANSQGRRKG	10.0	7.0	-	-	4298_17:16024507-16024507 C>T_EETEEREQATPRRRKTANSQGRRKG
2:179647145-179647145 C>G	0.0	4298	RECTAL	-	-	-	-	TTN	uc021vta.2,p.E1012D|uc021vsy.2,p.E1058D|NM_133379,p.E1058D|uc002unb.3,p.E1058D|uc031rqc.1,p.E1058D|NM_133437,p.E1012D|NM_133432,p.E1012D|NM_003319,p.E1012D|NM_001256850,p.E1058D|uc031rqd.1,p.E1058D|ENST00000591111,p.E1058D|ENST00000342992,p.E1058D|uc021vtb.2,p.E1012D|ENST00000460472,p.E1012D|ENST00000360870,p.E1058D|ENST00000359218,p.E1012D|ENST00000342175,p.E1012D|NM_133378,p.E1058D|ENST00000589042,p.E1058D|uc021vsz.2,p.E1012D|NM_001267550,p.E1058D	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon20	c.G3174C	p.E1058D	TEKFTTEEKRFVESRDVVMTDTSLT	TEKFTTEEKRFVDSRDVVMTDTSLT	7.0	8.0	-	-	4298_2:179647145-179647145 C>G_TEKFTTEEKRFVDSRDVVMTDTSLT
13:32823745-32823745 G>A	0.0	4298	RECTAL	-	-	-	-	FRY	uc001utx.3,p.R2364Q|uc010tdw.3,p.R1090Q|ENST00000380250,p.R2364Q|NM_023037,p.R2364Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tdw.3	nonsynonymous SNV	exon49	c.G3269A	p.R1090Q	GRDGKPRAMAVTRSTSSTSSGSNSN	GRDGKPRAMAVTQSTSSTSSGSNSN	5.0	10.0	-	-	4298_13:32823745-32823745 G>A_GRDGKPRAMAVTQSTSSTSSGSNSN
17:3567983-3567983 T>G	1.0	4298	RECTAL	-	-	-	-	TAX1BP3	uc002fwe.1,p.K50T	protein_coding	uc002fwe.1	nonsynonymous SNV	exon2	c.A149C	p.K50T	DQDPSQNPFSEDKTDKVRGSGVLGP	DQDPSQNPFSEDTTDKVRGSGVLGP	8.0	7.0	-	-	4298_17:3567983-3567983 T>G_DQDPSQNPFSEDTTDKVRGSGVLGP
17:39742920-39742920 C>T	0.0	4298	RECTAL	-	-	ID=COSM979254;OCCURENCE=1(endometrium)	-	KRT14	uc002hxf.2,p.R56H|NM_000526,p.R56H	retained_intron, protein_coding	uc002hxf.2	nonsynonymous SNV	exon1	c.G167A	p.R56H	STYGGGLSVSSSRFSSGGAYGLGGG	STYGGGLSVSSSHFSSGGAYGLGGG	8.0	3.0	-	-	4298_17:39742920-39742920 C>T_STYGGGLSVSSSHFSSGGAYGLGGG
8:133111129-133111129 C>A	0.0	4298	RECTAL	-	-	-	-	HHLA1	ENST00000414222,p.D94Y|NM_001145095,p.D94Y|ENST00000434736,p.D130Y|uc011liy.1,p.D94Y	retained_intron, protein_coding	uc011liy.1	nonsynonymous SNV	exon4	c.G280T	p.D94Y	ELVNGMLSRALKDSKKFFSLLSVTS	ELVNGMLSRALKYSKKFFSLLSVTS	1.0	9.0	-	-	4298_8:133111129-133111129 C>A_ELVNGMLSRALKYSKKFFSLLSVTS
5:149497412-149497412 T>G	0.0	4298	RECTAL	-	-	-	1	PDGFRB	ENST00000261799,p.K969T|NM_002609,p.K969T|uc003lro.3,p.K969T|uc010jhd.3,p.K808T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jhd.3	nonsynonymous SNV	exon22	c.A2423C	p.K808T	LLERLLGEGYKKKYQQVDEEFLRSD	LLERLLGEGYKKTYQQVDEEFLRSD	8.0	1.0	-	-	4298_5:149497412-149497412 T>G_LLERLLGEGYKKTYQQVDEEFLRSD
5:140187244-140187244 T>G	1.0	4298	RECTAL	-	-	-	-	PCDHA4	ENST00000356878,p.S158A|NM_031500,p.S158A|uc003lhi.2,p.S158A|uc011daa.2,p.S158A|NM_018907,p.S158A|uc003lhh.1,p.S158A|ENST00000530339,p.S158A|ENST00000512229,p.S158A	protein_coding	uc011daa.2	nonsynonymous SNV	exon1	c.T472G	p.S158A	RPLDSRFPLEGASDADIGENALLTY	RPLDSRFPLEGAADADIGENALLTY	7.0	3.0	-	-	4298_5:140187244-140187244 T>G_RPLDSRFPLEGAADADIGENALLTY
8:27097502-27097502 G>A	0.0	4298	RECTAL	-	-	-	-	STMN4	uc003xfj.3,p.R193W|ENST00000350889,p.R193W|ENST00000265770,p.R166W|NM_001283054,p.R166W|NM_030795,p.R193W|uc003xfk.3,p.R166W	retained_intron, protein_coding	uc003xfk.3	nonsynonymous SNV	exon5	c.C496T	p.R166W	ENREAHLAAMLERLQEKDKHAEEVR	ENREAHLAAMLEWLQEKDKHAEEVR	2.0	7.0	-	-	4298_8:27097502-27097502 G>A_ENREAHLAAMLEWLQEKDKHAEEVR
22:29877075-29877075 G>A	0.0	4298	RECTAL	-	-	-	-	NEFH	NM_021076,p.R275H|uc003afo.3,p.R275H|ENST00000310624,p.R275H	protein_coding	uc003afo.3	nonsynonymous SNV	exon1	c.G824A	p.R275H	LKCDVTSALREIRAQLEGHAVQSTL	LKCDVTSALREIHAQLEGHAVQSTL	5.0	2.0	-	-	4298_22:29877075-29877075 G>A_LKCDVTSALREIHAQLEGHAVQSTL
12:48368041-48368041 G>A	0.0	4298	RECTAL	-	-	-	1	COL2A1	ENST00000380518,p.T1383M|NM_033150,p.T1314M|uc001rqv.3,p.T1314M|uc001rqu.3,p.T1383M|ENST00000337299,p.T1314M|NM_001844,p.T1383M|uc001rqt.3,p.T164M	retained_intron, protein_coding, processed_transcript	uc001rqv.3	nonsynonymous SNV	exon52	c.C3941T	p.T1314M	ANVQMTFLRLLSTEGSQNITYHCKN	ANVQMTFLRLLSMEGSQNITYHCKN	4.0	10.0	-	-	4298_12:48368041-48368041 G>A_ANVQMTFLRLLSMEGSQNITYHCKN
4:73013479-73013479 G>A	0.0	4298	RECTAL	-	-	-	-	NPFFR2	uc003hgg.2,p.E507K|uc010iig.2,p.E289K|uc003hgh.2,p.E405K|ENST00000308744,p.E507K|NM_053036,p.E405K|NM_001144756,p.E408K|NM_004885,p.E507K|ENST00000358749,p.E405K|ENST00000395999,p.E408K|uc003hgi.2,p.E408K	protein_coding, processed_transcript	uc010iig.2	nonsynonymous SNV	exon3	c.G865A	p.E289K	LLYRKSAEKPQQELVMEELKETTNS	LLYRKSAEKPQQKLVMEELKETTNS	3.0	8.0	-	-	4298_4:73013479-73013479 G>A_LLYRKSAEKPQQKLVMEELKETTNS
8:27097502-27097502 G>A	0.0	4298	RECTAL	-	-	-	-	STMN4	ENST00000519614,p.R166W|uc010luo.3,p.R166W|uc011lak.2,p.R193W|ENST00000522908,p.R193W	retained_intron, protein_coding	uc011lak.2	nonsynonymous SNV	exon6	c.C577T	p.R193W	ENREAHLAAMLERLQEKVRGPWLER	ENREAHLAAMLEWLQEKVRGPWLER	2.0	7.0	-	-	4298_8:27097502-27097502 G>A_ENREAHLAAMLEWLQEKVRGPWLER
1:115220128-115220128 C>T	0.0	4298	RECTAL	-	-	-	-	AMPD1	uc001eff.2,p.G440D|NM_000036,p.G444D|uc001efe.2,p.G444D|ENST00000369538,p.G440D|ENST00000520113,p.G444D|ENST00000353928,p.G411D|NM_001172626,p.G440D	protein_coding, nonsense_mediated_decay	uc001eff.2	nonsynonymous SNV	exon9	c.G1319A	p.G440D	NGEYFATIIKEVGADLVEAKYQHAE	NGEYFATIIKEVDADLVEAKYQHAE	2.0	8.0	-	-	4298_1:115220128-115220128 C>T_NGEYFATIIKEVDADLVEAKYQHAE
13:49070448-49070448 T>A	0.0	4298	RECTAL	-	-	-	-	RCBTB2	uc010tgg.2,p.D470V|uc001vci.3,p.D441V|uc001vch.3,p.D465V|NM_001286831,p.D441V|uc001vcj.3,p.D417V|ENST00000430805,p.D470V|NM_001286830,p.D470V|ENST00000544492,p.D191V|ENST00000344532,p.D465V|NM_001286832,p.D191V|NM_001268,p.D465V|uc010tgh.2,p.D191V	protein_coding, processed_transcript	uc010tgh.2	nonsynonymous SNV	exon9	c.A572T	p.D191V	ISLSPEEAVGLLDLATFYRENRLKK	ISLSPEEAVGLLVLATFYRENRLKK	5.0	3.0	-	-	4298_13:49070448-49070448 T>A_ISLSPEEAVGLLVLATFYRENRLKK
20:48098645-48098645 C>T	0.0	4298	RECTAL	-	-	-	-	KCNB1	ENST00000371741,p.D125N|NM_004975,p.D125N|uc002xur.1,p.D125N|uc002xus.1,p.D125N	protein_coding	uc002xus.1	nonsynonymous SNV	exon2	c.G373A	p.D125N	LSFSQELDYWGIDEIYLESCCQARY	LSFSQELDYWGINEIYLESCCQARY	1.0	9.0	-	-	4298_20:48098645-48098645 C>T_LSFSQELDYWGINEIYLESCCQARY
2:213914600-213914600 T>G	0.0	4298	RECTAL	-	-	-	-	IKZF2	uc010fuv.3,p.E111D|ENST00000421754,p.E111D|ENST00000451136,p.E111D|uc010fuy.3,p.E111D|NM_001079526,p.E111D|ENST00000374319,p.E111D|uc002vel.3,p.E58D|uc002ven.3,p.E111D	retained_intron, protein_coding, nonsense_mediated_decay	uc010fuy.3	nonsynonymous SNV	exon4	c.A333C	p.E111D	LQGEGGIRLPNGERPFHCNQCGASF	LQGEGGIRLPNGDRPFHCNQCGASF	6.0	6.0	-	-	4298_2:213914600-213914600 T>G_LQGEGGIRLPNGDRPFHCNQCGASF
8:27097502-27097502 G>A	0.0	4298	RECTAL	-	-	-	-	STMN4	uc011lai.2,p.R193W|uc011laj.2,p.R157W|ENST00000519997,p.R157W|ENST00000523048,p.R193W|NM_001283055,p.R157W|NM_001283053,p.R193W	retained_intron, protein_coding	uc011laj.2	nonsynonymous SNV	exon4	c.C469T	p.R157W	ENREAHLAAMLERLQEKEPPAAR	ENREAHLAAMLEWLQEKEPPAAR	2.0	7.0	-	-	4298_8:27097502-27097502 G>A_ENREAHLAAMLEWLQEKEPPAAR
5:137610029-137610029 C>G	0.0	4298	RECTAL	-	-	-	-	GFRA3	uc003lco.3,p.A29P|ENST00000274721,p.A29P|ENST00000378362,p.A29P|uc003lcn.3,p.A29P|NM_001496,p.A29P	protein_coding	uc003lco.3	nonsynonymous SNV	exon1	c.G85C	p.A29P	LLLLLPPSPLPLAAGDPLPTESRLM	LLLLLPPSPLPLPAGDPLPTESRLM	3.0	9.0	-	-	4298_5:137610029-137610029 C>G_LLLLLPPSPLPLPAGDPLPTESRLM
1:200816777-200816777 G>C	0.0	4298	RECTAL	-	-	-	-	CAMSAP2	uc001gvl.3,p.R412T|NM_001297708,p.R385T|ENST00000358823,p.R401T|ENST00000413307,p.R385T|ENST00000236925,p.R412T|uc001gvk.3,p.R401T|NM_001297707,p.R412T|uc001gvm.3,p.R385T|NM_203459,p.R401T	retained_intron, protein_coding, nonsense_mediated_decay	uc001gvm.3	nonsynonymous SNV	exon10	c.G1154C	p.R385T	RPQAHSSASGGIRRSSSMSYVDGFI	RPQAHSSASGGITRSSSMSYVDGFI	7.0	6.0	-	-	4298_1:200816777-200816777 G>C_RPQAHSSASGGITRSSSMSYVDGFI
20:61341109-61341109 C>T	0.0	4298	RECTAL	-	-	-	-	NTSR1	uc002ydf.3,p.R184C|ENST00000370501,p.R184C|NM_002531,p.R184C	protein_coding, processed_transcript	uc002ydf.3	nonsynonymous SNV	exon1	c.C550T	p.R184C	HPFKAKTLMSRSRTKKFISAIWLAS	HPFKAKTLMSRSCTKKFISAIWLAS	2.0	4.0	-	-	4298_20:61341109-61341109 C>T_HPFKAKTLMSRSCTKKFISAIWLAS
6:35203231-35203231 C>T	1.0	4298	RECTAL	-	-	-	-	SCUBE3	uc003okh.1,p.R112W|ENST00000394681,p.R241W	protein_coding	uc003okh.1	nonsynonymous SNV	exon6	c.C334T	p.R112W	LHTDGKTCIGERRLEQHIPTQAVSN	LHTDGKTCIGERWLEQHIPTQAVSN	4.0	10.0	-	-	4298_6:35203231-35203231 C>T_LHTDGKTCIGERWLEQHIPTQAVSN
5:41186207-41186207 G>A	0.0	4298	RECTAL	-	-	-	-	C6	ENST00000263413,p.R231C|NM_001115131,p.R231C|uc003jml.2,p.R231C|uc003jmk.3,p.R231C|ENST00000337836,p.R231C|NM_000065,p.R231C	retained_intron, protein_coding, processed_transcript	uc003jml.2	nonsynonymous SNV	exon6	c.C691T	p.R231C	KTVKSSRTSNPYRVPANLENVGFEV	KTVKSSRTSNPYCVPANLENVGFEV	3.0	6.0	-	-	4298_5:41186207-41186207 G>A_KTVKSSRTSNPYCVPANLENVGFEV
12:100926251-100926251 G>T	0.0	4298	RECTAL	-	-	-	-	NR1H4	uc001thr.2,p.S154I|NM_001206993,p.S164I|ENST00000548884,p.S154I|NM_001206992,p.S164I|uc001tht.2,p.S164I|uc001thq.2,p.S154I|uc001thp.2,p.S154I|NM_001206977,p.S154I|ENST00000551379,p.S164I|ENST00000392986,p.S154I|ENST00000321046,p.S154I|ENST00000188403,p.S164I|NM_001206979,p.S154I|uc001ths.2,p.S164I|NM_005123,p.S154I	protein_coding, nonsense_mediated_decay	uc001tht.2	nonsynonymous SNV	exon3	c.G491T	p.S164I	LTCEGCKGFFRRSITKNAVYKCKNG	LTCEGCKGFFRRIITKNAVYKCKNG	1.0	9.0	-	-	4298_12:100926251-100926251 G>T_LTCEGCKGFFRRIITKNAVYKCKNG
10:75051640-75051640 T>C	1.0	4298	RECTAL	-	-	-	-	CFAP70	uc001jty.3,p.S705G|ENST00000355577,p.S174G|ENST00000310715,p.S705G|ENST00000433268,p.S112G|uc009xrc.3,p.S705G|uc001jtx.3,p.S86G|ENST00000394865,p.S705G|NM_145170,p.S705G|ENST00000401621,p.S705G	protein_coding, processed_transcript	uc009xrc.3	nonsynonymous SNV	exon18	c.A2113G	p.S705G	QKALSLNQSHIHSLLLCGVLAVLLE	QKALSLNQSHIHGLLLCGVLAVLLE	5.0	10.0	-	-	4298_10:75051640-75051640 T>C_QKALSLNQSHIHGLLLCGVLAVLLE
19:58724062-58724062 A>C	0.0	4298	RECTAL	-	-	-	-	ZNF274	ENST00000424679,p.Q399H|uc010eum.1,p.Q264H|ENST00000345813,p.Q472H|ENST00000326804,p.Q504H	retained_intron, protein_coding, processed_transcript	uc010eum.1	nonsynonymous SNV	exon8	c.A792C	p.Q264H	KQITFIRIHKGSQVCRCSECGKIFR	KQITFIRIHKGSHVCRCSECGKIFR	7.0	3.0	-	-	4298_19:58724062-58724062 A>C_KQITFIRIHKGSHVCRCSECGKIFR
7:140301261-140301261 G>A	0.0	4298	RECTAL	-	-	-	-	DENND2A	uc010lnk.3,p.P313S|ENST00000496613,p.P313S|ENST00000461883,p.P313S|uc010lnj.3,p.P313S|ENST00000275884,p.P313S|ENST00000537639,p.P313S|uc003vvx.3,p.P313S|ENST00000492720,p.P313S|NM_015689,p.P313S|uc003vvw.3,p.P313S	protein_coding, nonsense_mediated_decay	uc010lnk.3	nonsynonymous SNV	exon3	c.C937T	p.P313S	SLPPPPLPSSPPPSSVNRRLWTGRQ	SLPPPPLPSSPPSSSVNRRLWTGRQ	5.0	9.0	-	-	4298_7:140301261-140301261 G>A_SLPPPPLPSSPPSSSVNRRLWTGRQ
2:210637827-210637827 G>C	0.0	4298	RECTAL	-	-	-	-	UNC80	uc010zjc.1,p.L34F|ENST00000439458,p.L34F|NM_032504,p.L34F|ENST00000272845,p.L34F|uc021vvx.1,p.L34F|uc002vdj.1,p.L34F|NM_182587,p.L34F	retained_intron, protein_coding, processed_transcript	uc021vvx.1	nonsynonymous SNV	exon2	c.G102C	p.L34F	IQTFLWRQTSAFLRPKLGKQYEASC	IQTFLWRQTSAFFRPKLGKQYEASC	1.0	4.0	-	-	4298_2:210637827-210637827 G>C_IQTFLWRQTSAFFRPKLGKQYEASC
1:76349465-76349465 A>C	0.0	4298	RECTAL	-	-	-	-	MSH4	uc001dhd.2,p.Y689S|NM_002440,p.Y689S|ENST00000263187,p.Y689S	protein_coding	uc001dhd.2	nonsynonymous SNV	exon15	c.A2066C	p.Y689S	IITGPNMSGKSTYLKQIALCQIMAQ	IITGPNMSGKSTSLKQIALCQIMAQ	2.0	7.0	-	-	4298_1:76349465-76349465 A>C_IITGPNMSGKSTSLKQIALCQIMAQ
8:143694620-143694620 C>T	0.0	4298	RECTAL	-	-	-	-	ARC	ENST00000356613,p.R338H|NM_015193,p.R338H|uc003ywn.2,p.R338H|uc022bca.1,p.R338H	protein_coding, processed_transcript	uc022bca.1	nonsynonymous SNV	exon1	c.G1013A	p.R338H	VGTLQPKLKRFLRHPLPKTLEQLIQ	VGTLQPKLKRFLHHPLPKTLEQLIQ	4.0	2.0	-	-	4298_8:143694620-143694620 C>T_VGTLQPKLKRFLHHPLPKTLEQLIQ
10:133058539-133058539 C>T	0.0	4298	RECTAL	-	-	-	-	TCERG1L	NM_174937,p.R280Q|uc001lkp.3,p.R280Q|ENST00000368642,p.R280Q	retained_intron, protein_coding	uc001lkp.3	nonsynonymous SNV	exon4	c.G839A	p.R280Q	HFLTLAPIKIPLRTSPVSDTRTERG	HFLTLAPIKIPLQTSPVSDTRTERG	1.0	10.0	-	-	4298_10:133058539-133058539 C>T_HFLTLAPIKIPLQTSPVSDTRTERG
5:140711926-140711926 G>A	0.0	4298	RECTAL	-	-	ID=COSM1062929,COSM1062928;OCCURENCE=1(endometrium)	-	PCDHGA1	ENST00000378105,p.A559T|NM_018912,p.A559T|uc003lji.2,p.A559T|NM_031993,p.A559T|ENST00000517417,p.A559T|uc011dan.2,p.A559T	protein_coding	uc011dan.2	nonsynonymous SNV	exon1	c.G1675A	p.A559T	SLSLFLLDQNDNAPEILYPALPTDG	SLSLFLLDQNDNTPEILYPALPTDG	5.0	3.0	-	-	4298_5:140711926-140711926 G>A_SLSLFLLDQNDNTPEILYPALPTDG
6:149699784-149699784 C>G	1.0	4298	RECTAL	-	-	-	-	TAB2	NM_001292034,p.Q245E|uc010kia.1,p.Q245E|uc010kib.2,p.Q245E|ENST00000392282,p.Q245E|ENST00000470466,p.Q245E|uc003qmj.3,p.Q245E|ENST00000538427,p.Q245E|uc011eec.2,p.Q213E|ENST00000367456,p.Q245E|ENST00000536230,p.Q213E|ENST00000286332,p.Q245E|NM_001292035,p.Q213E|NM_015093,p.Q245E	protein_coding, processed_transcript, nonsense_mediated_decay	uc011eec.2	nonsynonymous SNV	exon2	c.C637G	p.Q213E	SGWVSQFNPMNPQQVYQPSQPGPWT	SGWVSQFNPMNPEQVYQPSQPGPWT	10.0	1.0	-	-	4298_6:149699784-149699784 C>G_SGWVSQFNPMNPEQVYQPSQPGPWT
1:227182087-227182087 G>A	1.0	4298	RECTAL	-	-	-	-	CDC42BPA	uc009xes.3,p.P1653L|uc001hqs.3,p.P1600L|NM_003607,p.P1681L|ENST00000535525,p.P1661L|uc001hqq.3,p.P980L|ENST00000366769,p.P1681L|ENST00000366765,p.P1694L|uc010pvs.2,p.P1661L|ENST00000334218,p.P1743L|ENST00000366764,p.P1653L|NM_014826,p.P1600L|uc001hqp.3,p.P899L|ENST00000366767,p.P1600L|uc001hqr.3,p.P1681L|ENST00000366766,p.P1716L	protein_coding, processed_transcript	uc010pvs.2	nonsynonymous SNV	exon36	c.C4982T	p.P1661L	PARDFDGEDSDSPRHSTASNSSNLS	PARDFDGEDSDSLRHSTASNSSNLS	8.0	8.0	-	-	4298_1:227182087-227182087 G>A_PARDFDGEDSDSLRHSTASNSSNLS
11:124056451-124056451 T>A	0.0	4298	RECTAL	-	-	-	-	VWA5A,OR8G2	ENST00000318666,p.L159M|uc001pzv.2,p.L159M	protein_coding	uc001pzv.2	nonsynonymous SNV	exon1	c.T475A	p.L159M	GTWLLGCIHSSILTSLTFTLPYCGP	GTWLLGCIHSSIMTSLTFTLPYCGP	1.0	2.0	-	-	4298_11:124056451-124056451 T>A_GTWLLGCIHSSIMTSLTFTLPYCGP
13:41705943-41705943 A>C	1.0	4298	RECTAL	-	-	-	-	KBTBD6	uc001uxu.1,p.S235R|ENST00000379485,p.S235R|ENST00000499385,p.S169R|NM_152903,p.S235R	protein_coding	uc001uxu.1	nonsynonymous SNV	exon1	c.T705G	p.S235R	LAVLRLDSLDVESEQTVCHVAVQWL	LAVLRLDSLDVEREQTVCHVAVQWL	6.0	8.0	-	-	4298_13:41705943-41705943 A>C_LAVLRLDSLDVEREQTVCHVAVQWL
19:10088328-10088328 A>C	0.0	4298	RECTAL	-	-	-	-	COL5A3	uc002mmq.1,p.L1023R|ENST00000264828,p.L1023R|NM_015719,p.L1023R	retained_intron, protein_coding	uc002mmq.1	nonsynonymous SNV	exon42	c.T3068G	p.L1023R	ERGPLGPAGGIGLPGQSGSEGPVGP	ERGPLGPAGGIGRPGQSGSEGPVGP	5.0	6.0	-	-	4298_19:10088328-10088328 A>C_ERGPLGPAGGIGRPGQSGSEGPVGP
X:21627575-21627575 T>G	0.0	4298	RECTAL	-	-	-	-	CNKSR2	uc004czw.3,p.S844R|uc004czy.3,p.S436R|ENST00000425654,p.S814R|ENST00000379510,p.S844R|NM_001168648,p.S844R|NM_001168647,p.S814R|uc004czx.2,p.S844R|NM_001168649,p.S795R|ENST00000543067,p.S795R|ENST00000279451,p.S844R|uc011mjn.2,p.S795R|uc011mjo.2,p.S814R|NM_014927,p.S844R	protein_coding, processed_transcript	uc011mjo.2	nonsynonymous SNV	exon19	c.T2442G	p.S814R	MQVLNGNGGKPRSFTLPRDSGFNHC	MQVLNGNGGKPRRFTLPRDSGFNHC	5.0	8.0	-	-	4298_X:21627575-21627575 T>G_MQVLNGNGGKPRRFTLPRDSGFNHC
2:141356256-141356256 A>C	0.0	4298	RECTAL	-	-	ID=COSM1256749;OCCURENCE=1(oesophagus)	1	LRP1B	uc002tvj.1,p.S2380A|ENST00000389484,p.S2380A|NM_018557,p.S2380A	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon43	c.T7138G	p.S2380A	LTIDYRAEKLYFSDGSLGKIERCEY	LTIDYRAEKLYFADGSLGKIERCEY	1.0	5.0	-	-	4298_2:141356256-141356256 A>C_LTIDYRAEKLYFADGSLGKIERCEY
12:50472244-50472244 T>C	0.0	4298	RECTAL	-	-	-	-	ASIC1	uc001rvv.4,p.V293A|uc009zln.4,p.V84A|uc009zlo.4,p.V293A|ENST00000552438,p.V327A|ENST00000447966,p.V293A|NM_001256830,p.V327A|uc021qxr.2,p.V327A|NM_001095,p.V293A|NM_020039,p.V293A|ENST00000228468,p.V293A|uc001rvw.4,p.V293A|uc031qhf.1,p.V196A	retained_intron, protein_coding, nonsense_mediated_decay	uc031qhf.1	nonsynonymous SNV	exon5	c.T587C	p.V196A	IYLPPPWGTCKAVTMDSDLDFFDSY	IYLPPPWGTCKAATMDSDLDFFDSY	8.0	3.0	-	-	4298_12:50472244-50472244 T>C_IYLPPPWGTCKAATMDSDLDFFDSY
6:5431375-5431375 G>A	0.0	4298	RECTAL	-	-	-	-	FARS2	ENST00000274680,p.G292R|uc003mwr.2,p.G292R|ENST00000324331,p.G292R|uc010jnv.1,p.G292R|NM_006567,p.G292R	protein_coding	uc010jnv.1	nonsynonymous SNV	exon4	c.G874A	p.G292R	NFHGEWLEVLGCGVMEQQLVNSAGA	NFHGEWLEVLGCRVMEQQLVNSAGA	8.0	2.0	-	-	4298_6:5431375-5431375 G>A_NFHGEWLEVLGCRVMEQQLVNSAGA
10:115381935-115381935 T>G	0.0	4298	RECTAL	-	-	-	-	NRAP	uc001laj.4,p.K821T|ENST00000360478,p.K786T|NM_198060,p.K821T|NM_006175,p.K786T|ENST00000369358,p.K829T|ENST00000359988,p.K821T|uc001lal.4,p.K821T|uc001lak.4,p.K786T|NM_001261463,p.K821T|ENST00000369360,p.K794T	protein_coding	uc001lal.4	nonsynonymous SNV	exon24	c.A2462C	p.K821T	AAKAKRDLASEVKYKEDYERSRGKL	AAKAKRDLASEVTYKEDYERSRGKL	1.0	7.0	-	-	4298_10:115381935-115381935 T>G_AAKAKRDLASEVTYKEDYERSRGKL
3:182933812-182933812 T>A	0.0	4298	RECTAL	-	-	-	-	MCF2L2	NM_015078,p.D814V|ENST00000473233,p.D814V|uc003fli.1,p.D814V|ENST00000328913,p.D814V	retained_intron, protein_coding, processed_transcript	uc003fli.1	nonsynonymous SNV	exon22	c.A2441T	p.D814V	STELQQALAVIEDLIKSCELAVDLA	STELQQALAVIEVLIKSCELAVDLA	5.0	2.0	-	-	4298_3:182933812-182933812 T>A_STELQQALAVIEVLIKSCELAVDLA
3:157920925-157920925 A>C	1.0	4298	RECTAL	-	-	-	-	RSRC1	ENST00000480119,p.T129P|ENST00000475278,p.T129P|NM_016625,p.T129P|ENST00000494002,p.T129P|ENST00000480820,p.T129P|uc003fbt.4,p.T129P|NM_001271838,p.T129P|ENST00000471994,p.T129P|ENST00000476899,p.T129P|ENST00000295930,p.T129P|uc003fbu.2,p.T129P	protein_coding, processed_transcript, nonsense_mediated_decay	uc003fbu.2	nonsynonymous SNV	exon4	c.A385C	p.T129P	HSRSSERSSHRRTRSRSRDRERRKG	HSRSSERSSHRRPRSRSRDRERRKG	9.0	1.0	-	-	4298_3:157920925-157920925 A>C_HSRSSERSSHRRPRSRSRDRERRKG
3:138665224-138665224 T>G	0.0	4298	RECTAL	-	-	-	1	FOXL2	uc003esw.3,p.K114T|NM_023067,p.K114T|ENST00000330315,p.K114T	protein_coding	uc003esw.3	nonsynonymous SNV	exon1	c.A341C	p.K114T	IRHNLSLNECFIKVPREGGGERKGN	IRHNLSLNECFITVPREGGGERKGN	3.0	9.0	-	-	4298_3:138665224-138665224 T>G_IRHNLSLNECFITVPREGGGERKGN
2:179499194-179499194 T>A	0.0	4298	RECTAL	-	-	-	-	TTN	ENST00000342992,p.K11537M|NM_003319,p.K5040M|ENST00000589042,p.K14105M|uc021vtb.2,p.K5040M|NM_133437,p.K5232M|uc021vsy.2,p.K11537M|ENST00000460472,p.K5040M|uc021vsz.2,p.K5232M|NM_133432,p.K5165M|NM_001256850,p.K12464M|uc031rqc.1,p.K14105M|ENST00000359218,p.K5165M|uc021vta.2,p.K5165M|NM_001267550,p.K14105M|ENST00000591111,p.K12464M|ENST00000342175,p.K5232M|uc031rqd.1,p.K12464M|NM_133378,p.K11537M	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon180	c.A37391T	p.K12464M	KSSDKFDIIADGKKHILVINDSQFD	KSSDKFDIIADGMKHILVINDSQFD	7.0	6.0	-	-	4298_2:179499194-179499194 T>A_KSSDKFDIIADGMKHILVINDSQFD
5:127673796-127673796 C>T	0.0	4298	RECTAL	-	-	ID=COSM292256,COSM292257;OCCURENCE=1(large_intestine)	-	FBN2	ENST00000508053,p.R1164H|NM_001999,p.R1164H|ENST00000507835,p.R14H|ENST00000508989,p.R1131H|uc003kuu.3,p.R1164H|uc003kuv.2,p.R1131H|ENST00000262464,p.R1164H	retained_intron, protein_coding, processed_transcript	uc003kuv.2	nonsynonymous SNV	exon26	c.G3392A	p.R1131H	MMKNCMDIDECERNPLLCRGGTCVN	MMKNCMDIDECEHNPLLCRGGTCVN	2.0	10.0	-	-	4298_5:127673796-127673796 C>T_MMKNCMDIDECEHNPLLCRGGTCVN
3:197894629-197894629 A>G	0.0	4298	RECTAL	-	-	-	-	FAM157A	NM_001145248,p.Q324R|uc011bup.1,p.Q324R	protein_coding	uc011bup.1	nonsynonymous SNV	exon5	c.A971G	p.Q324R	VSKSVCAEPWRHQRARDPAPTNFPL	VSKSVCAEPWRHRRARDPAPTNFPL	7.0	4.0	-	-	4298_3:197894629-197894629 A>G_VSKSVCAEPWRHRRARDPAPTNFPL
2:21260121-21260121 C>T	0.0	4298	RECTAL	-	-	ID=COSM3380027;OCCURENCE=1(pancreas)	-	APOB	ENST00000399256,p.V182M|uc002red.3,p.V182M|NM_000384,p.V182M|ENST00000233242,p.V182M	protein_coding	uc002red.3	nonsynonymous SNV	exon6	c.G544A	p.V182M	TEEAKQVLFLDTVYGNCSTHFTVKT	TEEAKQVLFLDTMYGNCSTHFTVKT	1.0	10.0	-	-	4298_2:21260121-21260121 C>T_TEEAKQVLFLDTMYGNCSTHFTVKT
6:42797240-42797240 C>T	1.0	4298	RECTAL	-	-	-	-	GLTSCR1L	uc011duw.1,p.P390L|ENST00000314073,p.P390L|NM_015349,p.P390L|uc003osn.1,p.P390L|uc003oso.1,p.P390L|ENST00000394168,p.P390L|uc003osm.1,p.P390L|uc003osp.1,p.P390L	protein_coding	uc011duw.1	nonsynonymous SNV	exon5	c.C1169T	p.P390L	VSSTGGSIVIHSPMGQPHAPQSQFL	VSSTGGSIVIHSLMGQPHAPQSQFL	6.0	7.0	-	-	4298_6:42797240-42797240 C>T_VSSTGGSIVIHSLMGQPHAPQSQFL
11:75134746-75134746 G>A	0.0	4298	RECTAL	-	-	-	-	KLHL35	uc001owm.2,p.P518L|NM_001039548,p.P518L|ENST00000539798,p.P518L|ENST00000376292,p.P298L	retained_intron, protein_coding, TEC	uc001owm.2	nonsynonymous SNV	exon5	c.C1553T	p.P518L	PGTDVWGEAAVLPSPVESCGVTVCD	PGTDVWGEAAVLLSPVESCGVTVCD	5.0	5.0	-	-	4298_11:75134746-75134746 G>A_PGTDVWGEAAVLLSPVESCGVTVCD
16:54967102-54967102 T>G	0.0	4298	RECTAL	-	-	-	-	IRX5	NM_005853,p.S257A|ENST00000394636,p.S257A|uc002ehv.3,p.S257A|uc021tin.1,p.S256A|ENST00000320990,p.S256A|uc002ehw.3,p.S191A|ENST00000558597,p.S191A|NM_001252197,p.S256A	protein_coding	uc021tin.1	nonsynonymous SNV	exon3	c.T766G	p.S256A	GSLSDSDFKEPPSEGRLDALQGPPR	GSLSDSDFKEPPAEGRLDALQGPPR	5.0	6.0	-	-	4298_16:54967102-54967102 T>G_GSLSDSDFKEPPAEGRLDALQGPPR
11:31822380-31822380 G>A	0.0	4298	RECTAL	-	-	-	-	PAX6	ENST00000379111,p.R128C|ENST00000379129,p.R142C|ENST00000379132,p.R128C|NM_001127612,p.R128C|NM_001258465,p.R128C|ENST00000241001,p.R128C|uc009yjr.3,p.R128C|uc021qfl.1,p.R142C|ENST00000419022,p.R142C|NM_001258463,p.R142C|NM_001258464,p.R128C|ENST00000379123,p.R128C|NM_001604,p.R142C|NM_000280,p.R128C|uc021qfn.1,p.R128C|uc021qfm.1,p.R142C|uc001mtf.5,p.R128C|uc001mtg.5,p.R142C|ENST00000379115,p.R142C|ENST00000379109,p.R128C|ENST00000379107,p.R142C|uc001mte.5,p.R128C|NM_001258462,p.R142C|uc001mtd.4,p.R128C|uc001mth.5,p.R128C	retained_intron, protein_coding, processed_transcript	uc021qfn.1	nonsynonymous SNV	exon4	c.C382T	p.R128C	NIPSVSSINRVLRNLASEKQQMGAD	NIPSVSSINRVLCNLASEKQQMGAD	3.0	5.0	-	-	4298_11:31822380-31822380 G>A_NIPSVSSINRVLCNLASEKQQMGAD
14:92150223-92150223 T>G	0.0	4298	RECTAL	-	-	-	-	CATSPERB	ENST00000256343,p.E310A|uc001xzs.1,p.E310A|NM_024764,p.E310A	retained_intron, protein_coding, nonsense_mediated_decay	uc001xzs.1	nonsynonymous SNV	exon11	c.A929C	p.E310A	YNERCFANREHFEVDYVTVTFERNR	YNERCFANREHFAVDYVTVTFERNR	3.0	2.0	-	-	4298_14:92150223-92150223 T>G_YNERCFANREHFAVDYVTVTFERNR
19:36884487-36884487 T>G	0.0	4298	RECTAL	-	-	-	-	ZFP82	NM_133466,p.K252T|ENST00000392161,p.K252T|ENST00000392171,p.K252T|uc002ody.1,p.K252T	retained_intron, protein_coding	uc002ody.1	nonsynonymous SNV	exon5	c.A755C	p.K252T	DLRVHQKMHIGEKPYECKECGKAFR	DLRVHQKMHIGETPYECKECGKAFR	3.0	2.0	-	-	4298_19:36884487-36884487 T>G_DLRVHQKMHIGETPYECKECGKAFR
8:143784578-143784578 A>C	0.0	4298	RECTAL	-	-	-	-	LY6K	ENST00000292430,p.K96T|ENST00000561179,p.K154T|NM_017527,p.K96T|uc011ljv.2,p.K96T	protein_coding, processed_transcript	uc011ljv.2	nonsynonymous SNV	exon3	c.A287C	p.K96T	QCSAGCAAMERPKPEEKRFLLEEPM	QCSAGCAAMERPTPEEKRFLLEEPM	3.0	3.0	-	-	4298_8:143784578-143784578 A>C_QCSAGCAAMERPTPEEKRFLLEEPM
3:150840754-150840754 ->A	0.0	4298	RECTAL	-	-	-	-	MED12L	ENST00000474524,p.A130fs|uc003eyp.3,p.A130fs|ENST00000309237,p.A130fs|NM_053002,p.A130fs|uc003eym.1,p.A130fs|ENST00000422248,p.A130fs|ENST00000273432,p.A130fs|uc003eyo.3,p.A130fs|uc003eyn.3,p.A130fs|uc011bnz.2,p.A130fs	protein_coding, processed_transcript	uc011bnz.2	frameshift insertion	exon3	c.390dupA	p.A130fs	SDLAGNKPLSILAKKVPILSKKEDV	SDLAGNKPLSILAKKGSYP	3.0	9.0	-	-	4298_3:150840754-150840754 ->A_SDLAGNKPLSILAKKGSYP
15:87089288-87089288 G>A	0.0	4298	RECTAL	-	-	-	-	AGBL1	NM_152336,p.C868Y|ENST00000441037,p.C868Y|ENST00000421325,p.C868Y|uc002blz.1,p.C868Y|ENST00000389298,p.C599Y	retained_intron, protein_coding	uc002blz.1	nonsynonymous SNV	exon19	c.G2603A	p.C868Y	GHSQKKNVFLYGCSIKETLWQAACT	GHSQKKNVFLYGYSIKETLWQAACT	5.0	1.0	-	-	4298_15:87089288-87089288 G>A_GHSQKKNVFLYGYSIKETLWQAACT
16:51173801-51173801 C>T	0.0	4298	RECTAL	-	-	-	-	SALL1	ENST00000570206,p.A681T|uc021tid.1,p.A681T|ENST00000251020,p.A778T|ENST00000440970,p.A681T|uc021tie.1,p.A778T|NM_001127892,p.A681T|uc021tif.1,p.A681T|NM_002968,p.A778T	protein_coding, processed_transcript	uc021tif.1	nonsynonymous SNV	exon2	c.G2041A	p.A681T	HSCPICQKKFTNAVVLQQHIRMHMG	HSCPICQKKFTNTVVLQQHIRMHMG	3.0	7.0	-	-	4298_16:51173801-51173801 C>T_HSCPICQKKFTNTVVLQQHIRMHMG
2:103095694-103095694 C>A	0.0	4298	RECTAL	-	-	-	-	SLC9A4	uc002tbz.4,p.A218E|ENST00000295269,p.A218E|NM_001011552,p.A218E	retained_intron, protein_coding	uc002tbz.4	nonsynonymous SNV	exon2	c.C653A	p.A218E	VDPVAVLAVFEEARVNEQLYMMIFG	VDPVAVLAVFEEERVNEQLYMMIFG	2.0	7.0	-	-	4298_2:103095694-103095694 C>A_VDPVAVLAVFEEERVNEQLYMMIFG
2:179434725-179434725 T>A	0.0	4298	RECTAL	-	-	-	-	TTN	NM_003319,p.R16313S|uc031rqc.1,p.R25378S|ENST00000342175,p.R16505S|NM_133432,p.R16438S|NM_133437,p.R16505S|NM_001267550,p.R25378S|uc021vsz.2,p.R16505S|ENST00000589042,p.R25378S|ENST00000460472,p.R16313S|NM_133378,p.R22810S|uc021vtb.2,p.R16313S|uc021vsy.2,p.R22810S|ENST00000342992,p.R22810S|ENST00000359218,p.R16438S|ENST00000591111,p.R23737S|NM_001256850,p.R23737S|uc021vta.2,p.R16438S|uc031rqd.1,p.R23737S	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon276	c.A71211T	p.R23737S	VTGLIENHDYEFRVSAENAAGLSEP	VTGLIENHDYEFSVSAENAAGLSEP	7.0	6.0	-	-	4298_2:179434725-179434725 T>A_VTGLIENHDYEFSVSAENAAGLSEP
9:43627176-43627176 G>T	0.0	4298	RECTAL	-	-	ID=COSM608783;OCCURENCE=1(lung)	-	SPATA31A6	uc011lrb.2,p.P504Q|NM_001145196,p.P504Q|ENST00000332857,p.P504Q	protein_coding, processed_transcript	uc011lrb.2	nonsynonymous SNV	exon4	c.C1511A	p.P504Q	QAEAQAHLQSSFPVLSPAFPSLIKN	QAEAQAHLQSSFQVLSPAFPSLIKN	4.0	7.0	-	-	4298_9:43627176-43627176 G>T_QAEAQAHLQSSFQVLSPAFPSLIKN
7:132192270-132192270 T>A	0.0	4298	RECTAL	-	-	-	-	PLXNA4	uc003vra.4,p.S395C|ENST00000378539,p.S395C|ENST00000359827,p.S395C|uc003vrb.3,p.S395C|NM_181775,p.S395C|uc003vrc.2,p.S395C|NM_001105543,p.S395C|NM_020911,p.S395C|ENST00000321063,p.S395C|ENST00000423507,p.S395C	retained_intron, protein_coding	uc003vrc.2	nonsynonymous SNV	exon2	c.A1183T	p.S395C	LAWLKVKDIPCSSALLTIDDNFCGL	LAWLKVKDIPCSCALLTIDDNFCGL	5.0	4.0	-	-	4298_7:132192270-132192270 T>A_LAWLKVKDIPCSCALLTIDDNFCGL
11:123814011-123814011 G>A	0.0	4298	RECTAL	-	-	ID=COSM268142;OCCURENCE=1(large_intestine)	-	OR6T1	NM_001005187,p.R179C|ENST00000321252,p.R179C|uc010sab.2,p.R179C	protein_coding	uc010sab.2	nonsynonymous SNV	exon1	c.C535T	p.R179C	PFCGPNGIDHFFRDSWPLLRLSCGD	PFCGPNGIDHFFCDSWPLLRLSCGD	1.0	8.0	-	-	4298_11:123814011-123814011 G>A_PFCGPNGIDHFFCDSWPLLRLSCGD
16:1261517-1261517 G>A	0.0	4298	RECTAL	-	-	ID=COSM967099,COSM967101;OCCURENCE=1(endometrium)	-	CACNA1H	uc002cku.3,p.D169N|NM_021098,p.D1463N|uc002ckv.3,p.D169N|uc002cks.3,p.D1463N|ENST00000348261,p.D1463N|NM_001005407,p.D1463N|ENST00000358590,p.D1463N|uc002ckt.3,p.D1463N|uc010brj.3,p.D169N|ENST00000565831,p.D1463N	retained_intron, protein_coding	uc010brj.3	nonsynonymous SNV	exon6	c.G505A	p.D169N	LFKGKFYYCEGPDTRNISTKAQCRA	LFKGKFYYCEGPNTRNISTKAQCRA	5.0	7.0	-	-	4298_16:1261517-1261517 G>A_LFKGKFYYCEGPNTRNISTKAQCRA
18:61390297-61390297 A>C	0.0	4298	RECTAL	-	-	-	-	SERPINB11	uc010dqd.3,p.E167D|NM_001291279,p.E106D|uc002ljj.4,p.E167D|uc010xes.2,p.E106D|ENST00000536691,p.E106D|uc010dqe.3,p.E80D|ENST00000538847,p.E79D|uc010dqf.3,p.E79D	protein_coding, processed_transcript, polymorphic_pseudogene	uc010xes.2	nonsynonymous SNV	exon7	c.A318C	p.E106D	HEWTSSSNMMEREVEVHLPRFKLET	HEWTSSSNMMERDVEVHLPRFKLET	1.0	6.0	-	-	4298_18:61390297-61390297 A>C_HEWTSSSNMMERDVEVHLPRFKLET
3:50378858-50378858 C>A	0.0	4298	RECTAL	-	-	-	-	ZMYND10	uc010hll.1,p.G431C|NM_015896,p.G436C|ENST00000231749,p.G436C|ENST00000360165,p.G431C|uc003dag.1,p.G436C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hll.1	nonsynonymous SNV	exon11	c.G1291T	p.G431C	EKHGKTCVLAAQGDRAK	EKHGKTCVLAAQCDRAK	3.0	7.0	-	-	4298_3:50378858-50378858 C>A_EKHGKTCVLAAQCDRAK
1:36564855-36564855 G>A	0.0	4298	RECTAL	-	-	-	-	COL8A2	NM_001294347,p.R78W|NM_005202,p.R143W|ENST00000303143,p.R143W|ENST00000397799,p.R143W|uc001bzv.2,p.R143W|uc001bzw.2,p.R78W|ENST00000481785,p.R78W	protein_coding	uc001bzw.2	nonsynonymous SNV	exon2	c.C232T	p.R78W	PGKVGPPGQPGLRGEPGIRGDQGLR	PGKVGPPGQPGLWGEPGIRGDQGLR	4.0	8.0	-	-	4298_1:36564855-36564855 G>A_PGKVGPPGQPGLWGEPGIRGDQGLR
6:40400092-40400092 C>A	0.0	4298	RECTAL	-	-	-	-	LRFN2	ENST00000338305,p.R254L|uc003oph.1,p.R254L|NM_020737,p.R254L	protein_coding	uc003oph.1	nonsynonymous SNV	exon2	c.G761T	p.R254L	NPLHCNCELLWLRRLERDDDLETCG	NPLHCNCELLWLLRLERDDDLETCG	2.0	8.0	-	-	4298_6:40400092-40400092 C>A_NPLHCNCELLWLLRLERDDDLETCG
17:57290220-57290220 T>G	1.0	4298	RECTAL	-	-	-	-	SMG8	ENST00000582469,p.L222R|ENST00000300917,p.L679R|NM_018149,p.L679R|ENST00000543872,p.L679R|uc002ixi.3,p.L679R	protein_coding, processed_transcript, nonsense_mediated_decay	uc002ixi.3	nonsynonymous SNV	exon3	c.T2036G	p.L679R	SSPAPPDSDADKLKEKEPQTQGEST	SSPAPPDSDADKRKEKEPQTQGEST	5.0	8.0	-	-	4298_17:57290220-57290220 T>G_SSPAPPDSDADKRKEKEPQTQGEST
12:124281258-124281258 A>T	0.0	4298	RECTAL	-	-	-	-	DNAH10	uc010tav.1,p.K105M|uc010taw.1,p.K48M|ENST00000409039,p.K563M|uc001uft.4,p.K563M|NM_207437,p.K563M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010taw.1	nonsynonymous SNV	exon2	c.A143T	p.K48M	IFVQNLENPPLYKNHPPVAGAIYWE	IFVQNLENPPLYMNHPPVAGAIYWE	3.0	7.0	-	-	4298_12:124281258-124281258 A>T_IFVQNLENPPLYMNHPPVAGAIYWE
18:7033087-7033087 A>T	0.0	4298	RECTAL	-	-	-	-	LAMA1	uc002knm.3,p.S687T|ENST00000389658,p.S687T|NM_005559,p.S687T|uc010wzj.2,p.S163T	retained_intron, protein_coding	uc010wzj.2	nonsynonymous SNV	exon14	c.T487A	p.S163T	YNSAKMALYRLESVSLDIASSNAID	YNSAKMALYRLETVSLDIASSNAID	4.0	1.0	-	-	4298_18:7033087-7033087 A>T_YNSAKMALYRLETVSLDIASSNAID
15:82335662-82335662 C>T	0.0	4298	RECTAL	-	-	-	-	MEX3B	uc002bgq.2,p.D517N|NM_032246,p.D517N|ENST00000329713,p.D517N	protein_coding	uc002bgq.2	nonsynonymous SNV	exon2	c.G1549A	p.D517N	SSSSGLRRKGSRDCSVCFESEVIAA	SSSSGLRRKGSRNCSVCFESEVIAA	3.0	8.0	-	-	4298_15:82335662-82335662 C>T_SSSSGLRRKGSRNCSVCFESEVIAA
16:55907891-55907891 T>G	0.0	4298	RECTAL	-	-	ID=COSM1248123,COSM1248122;OCCURENCE=1(oesophagus)	-	CES5A	ENST00000290567,p.Q44H|NM_001190158,p.Q73H|NM_145024,p.Q44H|NM_001143685,p.Q44H|ENST00000520435,p.Q44H|ENST00000319165,p.Q44H|uc002eio.2,p.Q44H|uc021tir.1,p.Q73H|uc002eip.2,p.Q44H|ENST00000521992,p.Q73H	protein_coding, processed_transcript, nonsense_mediated_decay	uc021tir.1	nonsynonymous SNV	exon3	c.A219C	p.Q73H	QRNTRLGWIQGKQVTVLGSPVPVNV	QRNTRLGWIQGKHVTVLGSPVPVNV	1.0	5.0	-	-	4298_16:55907891-55907891 T>G_QRNTRLGWIQGKHVTVLGSPVPVNV
6:39034027-39034027 G>A	0.0	4298	RECTAL	-	-	ID=COSM173055;OCCURENCE=1(large_intestine)	-	GLP1R	ENST00000373256,p.A153T|NM_002062,p.A153T|uc003ooj.4,p.A153T	protein_coding	uc003ooj.4	nonsynonymous SNV	exon5	c.G457A	p.A153T	LLFLYIIYTVGYALSFSALVIASAI	LLFLYIIYTVGYTLSFSALVIASAI	1.0	5.0	-	-	4298_6:39034027-39034027 G>A_LLFLYIIYTVGYTLSFSALVIASAI
9:125289050-125289050 A>C	0.0	4298	RECTAL	-	-	-	-	OR1N1	NM_012363,p.F175V|uc004bmn.1,p.F175V|ENST00000304880,p.F175V	protein_coding	uc004bmn.1	nonsynonymous SNV	exon1	c.T523G	p.F175V	RLSFCVTGEIAHFFCDITPVLKLSC	RLSFCVTGEIAHVFCDITPVLKLSC	1.0	5.0	-	-	4298_9:125289050-125289050 A>C_RLSFCVTGEIAHVFCDITPVLKLSC
5:19483616-19483616 G>T	0.0	4298	RECTAL	-	-	-	-	CDH18	ENST00000507958,p.T559N|uc003jgd.3,p.T559N|NM_004934,p.T559N|NM_001291956,p.T559N|ENST00000274170,p.T559N|ENST00000382275,p.T559N|uc003jgc.3,p.T559N	protein_coding, processed_transcript	uc003jgd.3	nonsynonymous SNV	exon12	c.C1676A	p.T559N	ASILTRRRRFSRTVQDVYYLPIMIS	ASILTRRRRFSRNVQDVYYLPIMIS	1.0	4.0	-	-	4298_5:19483616-19483616 G>T_ASILTRRRRFSRNVQDVYYLPIMIS
2:213914600-213914600 T>G	0.0	4298	RECTAL	-	-	-	-	IKZF2	ENST00000431520,p.E137D|ENST00000457361,p.E137D|ENST00000342002,p.E143D|uc002vej.3,p.E84D|ENST00000434687,p.E137D|NM_016260,p.E137D|ENST00000413091,p.E137D|uc002vem.3,p.E137D	retained_intron, protein_coding, nonsense_mediated_decay	uc002vem.3	nonsynonymous SNV	exon5	c.A411C	p.E137D	NVLMVHKRSHTGERPFHCNQCGASF	NVLMVHKRSHTGDRPFHCNQCGASF	6.0	6.0	-	-	4298_2:213914600-213914600 T>G_NVLMVHKRSHTGDRPFHCNQCGASF
1:215821993-215821993 G>A	0.0	4298	RECTAL	-	-	-	-	USH2A	ENST00000366943,p.A4820V|ENST00000307340,p.A4820V|NM_206933,p.A4820V|uc001hku.1,p.A4820V	retained_intron, protein_coding	uc001hku.1	nonsynonymous SNV	exon66	c.C14459T	p.A4820V	CTCFNCCSKGPTAELRTHPAPPSGL	CTCFNCCSKGPTVELRTHPAPPSGL	1.0	4.0	-	-	4298_1:215821993-215821993 G>A_CTCFNCCSKGPTVELRTHPAPPSGL
12:29624836-29624836 A>C	0.0	4298	RECTAL	-	-	-	-	OVCH1	NM_183378,p.C585W|uc001rix.1,p.C585W|ENST00000318184,p.C585W	protein_coding, nonsense_mediated_decay	uc001rix.1	nonsynonymous SNV	exon16	c.T1755G	p.C585W	RRIAGGEEACPHCWPWQVGLRFLGD	RRIAGGEEACPHWWPWQVGLRFLGD	1.0	1.0	-	-	4298_12:29624836-29624836 A>C_RRIAGGEEACPHWWPWQVGLRFLGD
15:74636306-74636306 C>T	0.0	4298	RECTAL	-	-	-	-	CYP11A1	ENST00000566674,p.R60H|uc010bjm.1,p.R60H|uc002axt.2,p.R218H|NM_001099773,p.R60H|ENST00000358632,p.R60H|uc002axs.2,p.R60H|NM_000781,p.R218H|ENST00000450547,p.R60H|ENST00000435365,p.R218H|ENST00000268053,p.R218H|ENST00000419019,p.R60H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bjm.1	nonsynonymous SNV	exon3	c.G179A	p.R60H	AFESITNVIFGERQGMLEEVVNPEA	AFESITNVIFGEHQGMLEEVVNPEA	3.0	6.0	-	-	4298_15:74636306-74636306 C>T_AFESITNVIFGEHQGMLEEVVNPEA
3:20043125-20043125 T>-	0.0	4298	RECTAL	-	-	-	-	PP2D1	ENST00000333083,p.I163fs|uc021wtw.1,p.I163fs|uc003cbp.3,p.I163fs|ENST00000389050,p.I163fs|NM_001252657,p.I163fs	retained_intron, protein_coding, nonsense_mediated_decay	uc021wtw.1	frameshift deletion	exon2	c.487delA	p.I163fs	DNIDRSVIYSQKICHLLIKGVGICE	DNIDRSVIYSQKYVIC	1.0	3.0	-	-	4298_3:20043125-20043125 T>-_DNIDRSVIYSQKYVIC
11:55861283-55861283 C>A	0.0	4298	RECTAL	-	-	-	-	OR8I2	uc010rix.2,p.A167E|ENST00000560768,p.A167E|ENST00000302124,p.A167E|NM_001003750,p.A167E	protein_coding	uc010rix.2	nonsynonymous SNV	exon1	c.C500A	p.A167E	SSLISVWVISSLAFCDSSINHFFCD	SSLISVWVISSLEFCDSSINHFFCD	1.0	7.0	-	-	4298_11:55861283-55861283 C>A_SSLISVWVISSLEFCDSSINHFFCD
5:140308584-140308584 G>A	0.0	4298	RECTAL	-	-	ID=COSM241074;OCCURENCE=1(prostate)	-	PCDHAC1	NM_031882,p.V703M|uc003lig.1,p.V703M|uc003lih.2,p.V703M|ENST00000409700,p.V703M|ENST00000253807,p.V703M|NM_018898,p.V703M	protein_coding	uc003lih.2	nonsynonymous SNV	exon1	c.G2107A	p.V703M	ISFLFLGCLLFFVCTKLHQSPGCCA	ISFLFLGCLLFFMCTKLHQSPGCCA	2.0	3.0	-	-	4298_5:140308584-140308584 G>A_ISFLFLGCLLFFMCTKLHQSPGCCA
19:33703262-33703262 A>T	0.0	4298	RECTAL	-	-	-	-	SLC7A10	ENST00000590036,p.S242T|uc002num.2,p.S242T|uc010xrq.2,p.S215T|ENST00000253188,p.S242T|NM_019849,p.S242T	protein_coding, nonsense_mediated_decay	uc010xrq.2	nonsynonymous SNV	exon4	c.T643A	p.S215T	SVGHLALAFLQGSFAFSGWNFLNYV	SVGHLALAFLQGTFAFSGWNFLNYV	2.0	6.0	-	-	4298_19:33703262-33703262 A>T_SVGHLALAFLQGTFAFSGWNFLNYV
16:29994449-29994449 C>G	1.0	4298	RECTAL	-	-	-	-	TAOK2	uc021tgf.1,p.H352Q|uc002dvd.2,p.H179Q|ENST00000279394,p.H352Q|NM_016151,p.H352Q|ENST00000308893,p.H352Q|ENST00000543033,p.H352Q|NM_004783,p.H352Q|uc002dvc.2,p.H352Q|uc010bzm.2,p.H359Q|ENST00000416441,p.H179Q|uc002dva.2,p.H352Q|uc002dvb.2,p.H352Q|NM_001252043,p.H352Q	retained_intron, protein_coding	uc021tgf.1	nonsynonymous SNV	exon12	c.C1056G	p.H352Q	HRAGTLTSLESSHSVPSMSISASSQ	HRAGTLTSLESSQSVPSMSISASSQ	8.0	3.0	-	-	4298_16:29994449-29994449 C>G_HRAGTLTSLESSQSVPSMSISASSQ
6:26017750-26017750 C>A	0.0	4298	RECTAL	-	-	-	-	HIST1H1A	uc003nfo.3,p.A71S|ENST00000244573,p.A71S|NM_005325,p.A71S	protein_coding	uc003nfo.3	nonsynonymous SNV	exon1	c.G211T	p.A71S	GVSLAALKKALAAAGYDVEKNNSRI	GVSLAALKKALASAGYDVEKNNSRI	3.0	3.0	-	-	4298_6:26017750-26017750 C>A_GVSLAALKKALASAGYDVEKNNSRI
5:13914689-13914689 G>C	0.0	4298	RECTAL	-	-	-	-	DNAH5	ENST00000265104,p.I420M|NM_001369,p.I420M|uc003jfd.2,p.I420M	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon10	c.C1260G	p.I420M	CKAYITNNGTASIWNQPQDVVEEKI	CKAYITNNGTASMWNQPQDVVEEKI	4.0	5.0	-	-	4298_5:13914689-13914689 G>C_CKAYITNNGTASMWNQPQDVVEEKI
11:68773372-68773372 C>A	0.0	4298	RECTAL	-	-	-	-	MRGPRF	uc001ooo.4,p.A136S|NM_001098515,p.A136S|ENST00000309099,p.A136S|uc001oop.4,p.A136S|NM_145015,p.A136S|ENST00000441623,p.A136S	protein_coding	uc001oop.4	nonsynonymous SNV	exon3	c.G406T	p.A136S	LCMFLTGVSLLPAVSAERCASVIFP	LCMFLTGVSLLPSVSAERCASVIFP	3.0	5.0	-	-	4298_11:68773372-68773372 C>A_LCMFLTGVSLLPSVSAERCASVIFP
17:57058377-57058377 C>G	0.0	4298	RECTAL	-	-	-	-	PPM1E	ENST00000308249,p.S751R|uc002iwx.4,p.S751R|NM_014906,p.S751R|uc010ddd.4,p.S514R	protein_coding	uc010ddd.4	nonsynonymous SNV	exon6	c.C1542G	p.S514R	KTHDIPCPDLPWSYKIE	KTHDIPCPDLPWRYKIE	3.0	5.0	-	-	4298_17:57058377-57058377 C>G_KTHDIPCPDLPWRYKIE
1:84878212-84878212 C>T	0.0	4298	RECTAL	-	-	-	-	DNASE2B	NM_058248,p.S35L|ENST00000370662,p.S35L|uc001dju.1,p.S35L|uc009wch.1,p.S35L|ENST00000370665,p.S243L|uc001djt.1,p.S243L|NM_021233,p.S243L	protein_coding	uc009wch.1	nonsynonymous SNV	exon3	c.C104T	p.S35L	SAQGQKFLHFAKSDSFLDDIFAAWM	SAQGQKFLHFAKLDSFLDDIFAAWM	3.0	1.0	-	-	4298_1:84878212-84878212 C>T_SAQGQKFLHFAKLDSFLDDIFAAWM
1:232574863-232574863 G>C	1.0	4298	RECTAL	-	-	ID=COSM3789644,COSM3789643;OCCURENCE=1(urinary_tract)	-	SIPA1L2	NM_020808,p.S1341C|uc001hvg.3,p.S1341C|ENST00000262861,p.S1341C|ENST00000308942,p.S415C|ENST00000366630,p.S1341C|uc001hvf.3,p.S415C	protein_coding, processed_transcript	uc001hvg.3	nonsynonymous SNV	exon13	c.C4022G	p.S1341C	AEGSMGDLSEISSHSSGSHHSGSPS	AEGSMGDLSEISCHSSGSHHSGSPS	7.0	5.0	-	-	4298_1:232574863-232574863 G>C_AEGSMGDLSEISCHSSGSHHSGSPS
2:182926190-182926190 C>T	0.0	4298	RECTAL	-	-	-	-	PPP1R1C	NM_001261424,p.P62L|ENST00000452904,p.P55L|NM_001261425,p.P55L|NM_001080545,p.P55L|ENST00000409702,p.P55L|ENST00000409137,p.P55L|uc002uop.2,p.P55L|uc002uoo.4,p.P55L|uc010frm.2,p.P62L|ENST00000280295,p.P62L	retained_intron, protein_coding, processed_transcript	uc010frm.2	nonsynonymous SNV	exon3	c.C185T	p.P62L	EHNPPEIDDKRGPNTQGELQNASPK	EHNPPEIDDKRGLNTQGELQNASPK	4.0	6.0	-	-	4298_2:182926190-182926190 C>T_EHNPPEIDDKRGLNTQGELQNASPK
15:78526785-78526785 T>G	0.0	4298	RECTAL	-	-	-	-	ACSBG1	NM_015162,p.D20A|ENST00000560124,p.D20A|ENST00000258873,p.D20A|uc002bdh.3,p.D20A|uc010umw.2,p.D20A|ENST00000558130,p.D20A|NM_001199377,p.D20A|ENST00000559707,p.D20A|ENST00000557935,p.D20A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010umw.2	nonsynonymous SNV	exon1	c.A59C	p.D20A	GYGCPHGDPSMLDSRETPQESRQDM	GYGCPHGDPSMLASRETPQESRQDM	2.0	4.0	-	-	4298_15:78526785-78526785 T>G_GYGCPHGDPSMLASRETPQESRQDM
3:178936092-178936092 A>G	0.0	4298	RECTAL	-	-	ID=COSM125371,COSM764;OCCURENCE=9(skin),13(breast),33(large_intestine),1(eye),5(liver),8(urinary_tract),1(pituitary),8(endometrium),1(lung),2(haematopoietic_and_lymphoid_tissue),3(stomach),4(upper_aerodigestive_tract)	1	PIK3CA	ENST00000263967,p.E545G|uc003fjk.3,p.E545G|NM_006218,p.E545G	retained_intron, protein_coding	uc003fjk.3	nonsynonymous SNV	exon10	c.A1634G	p.E545G	AISTRDPLSEITEQEKDFLWSHRHY	AISTRDPLSEITGQEKDFLWSHRHY	6.0	2.0	-	-	4298_3:178936092-178936092 A>G_AISTRDPLSEITGQEKDFLWSHRHY
2:110107071-110107071 A>C	0.0	4298	RECTAL	-	-	-	-	SH3RF3	uc010ywt.1,p.K720T|ENST00000309415,p.K720T|NM_001099289,p.K720T	protein_coding	uc010ywt.1	nonsynonymous SNV	exon9	c.A2159C	p.K720T	KLDEKKSEKKEKKSGLLKLLAGAST	KLDEKKSEKKEKTSGLLKLLAGAST	5.0	4.0	-	-	4298_2:110107071-110107071 A>C_KLDEKKSEKKEKTSGLLKLLAGAST
4:5710044-5710044 C>T	0.0	4298	RECTAL	-	-	-	-	EVC2	ENST00000344408,p.R66Q|uc003gij.3,p.R66Q|ENST00000344938,p.R66Q|NM_147127,p.R66Q	protein_coding, nonsense_mediated_decay	uc003gij.3	nonsynonymous SNV	exon1	c.G197A	p.R66Q	PRSGPGLRIPPGRSGAGPESSTQDL	PRSGPGLRIPPGQSGAGPESSTQDL	5.0	4.0	-	-	4298_4:5710044-5710044 C>T_PRSGPGLRIPPGQSGAGPESSTQDL
15:54305692-54305692 T>C	0.0	4298	RECTAL	-	-	-	-	UNC13C	ENST00000537900,p.S198P|ENST00000545554,p.S198P|NM_001080534,p.S198P|uc021sms.1,p.S198P|ENST00000260323,p.S198P|uc021smr.1,p.S198P	retained_intron, protein_coding	uc021sms.1	nonsynonymous SNV	exon1	c.T592C	p.S198P	KWKKSQECVSSDSELSTMKKSWGIR	KWKKSQECVSSDPELSTMKKSWGIR	2.0	1.0	-	-	4298_15:54305692-54305692 T>C_KWKKSQECVSSDPELSTMKKSWGIR
17:43045127-43045127 C>T	0.0	4298	RECTAL	-	-	-	-	C1QL1	NM_006688,p.G97E|uc002ihv.3,p.G97E|ENST00000253407,p.G97E	protein_coding	uc002ihv.3	nonsynonymous SNV	exon1	c.G290A	p.G97E	GDPGPPGPVGPPGEKGEPGKPGPPG	GDPGPPGPVGPPEEKGEPGKPGPPG	4.0	4.0	-	-	4298_17:43045127-43045127 C>T_GDPGPPGPVGPPEEKGEPGKPGPPG
X:53438753-53438753 C>A	0.0	4298	RECTAL	-	-	-	2	SMC1A	uc004dsg.3,p.Q404H|NM_001281463,p.Q382H|ENST00000375340,p.Q170H|NM_006306,p.Q404H|ENST00000322213,p.Q404H|uc011mof.2,p.Q170H|uc011moe.2,p.Q382H	protein_coding, processed_transcript	uc011mof.2	nonsynonymous SNV	exon4	c.G510T	p.Q170H	ELEKFNRDQKADQDRLDLEERKKVE	ELEKFNRDQKADHDRLDLEERKKVE	10.0	2.0	-	-	4298_X:53438753-53438753 C>A_ELEKFNRDQKADHDRLDLEERKKVE
8:143784578-143784578 A>C	0.0	4298	RECTAL	-	-	-	-	LY6K	uc011ljx.2,p.Q85H|ENST00000519387,p.Q85H|NM_001160355,p.Q85H	protein_coding, processed_transcript	uc011ljx.2	nonsynonymous SNV	exon3	c.A255C	p.Q85H	TVLRWLCSDGETQARGEAVSPGRAH	TVLRWLCSDGETHARGEAVSPGRAH	3.0	3.0	-	-	4298_8:143784578-143784578 A>C_TVLRWLCSDGETHARGEAVSPGRAH
8:70981547-70981547 T>A	0.0	4298	RECTAL	-	-	-	-	PRDM14	ENST00000276594,p.K183N|uc003xym.3,p.K183N|NM_024504,p.K183N	protein_coding	uc003xym.3	nonsynonymous SNV	exon2	c.A549T	p.K183N	PCSPSKQSEDGPKPSNQEGKSPARF	PCSPSKQSEDGPNPSNQEGKSPARF	1.0	2.0	-	-	4298_8:70981547-70981547 T>A_PCSPSKQSEDGPNPSNQEGKSPARF
5:76349871-76349871 C>T	1.0	4301	MELANOMA	-	-	-	-	AGGF1	ENST00000312916,p.H517Y|NM_018046,p.H517Y|uc003ket.3,p.H517Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc003ket.3	nonsynonymous SNV	exon10	c.C1549T	p.H517Y	VKIGETVLSFHIHPGSDTCDGCEPG	VKIGETVLSFHIYPGSDTCDGCEPG	8.0	3.0	-	-	4301_5:76349871-76349871 C>T_VKIGETVLSFHIYPGSDTCDGCEPG
1:9670824-9670824 C>T, 1:9670825-9670825 C>T	1.0	4301	MELANOMA	-	-	-	-	TMEM201	uc021ofy.1,p.P576S|ENST00000340381,p.P576S|ENST00000377376,p.P552S|uc021ofz.1,p.P393S|NM_001130924,p.P576S	protein_coding, processed_transcript, nonsense_mediated_decay	uc021ofz.1	nonsynonymous SNV	exon6	c.C1177T, c.C1178T	p.P393F	NGSLFTMEPPHVPRKLPLQDVKHAL	NGSLFTMEPPHVFRKLPLQDVKHAL	7.0	1.0	-	Dinucleotide variant, 1:9670825-9670825 C>T, residue 13 P>F, snp within 36 nucleotides, residue 16 P>L PR	4301_1:9670824-9670824 C>T, 1:9670825-9670825 C>T_NGSLFTMEPPHVFRKLPLQDVKHAL
17:43515310-43515310 G>A	1.0	4301	MELANOMA	-	-	-	-	PLEKHM1	uc010wjm.2,p.H1001Y|NM_014798,p.H1029Y|uc002ija.3,p.H1029Y|ENST00000430334,p.H1029Y|ENST00000421073,p.H940Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wjm.2	nonsynonymous SNV	exon11	c.C3001T	p.H1001Y	TTVRCAECKTVFHQSCQAVVKKGCP	TTVRCAECKTVFYQSCQAVVKKGCP	8.0	5.0	-	-	4301_17:43515310-43515310 G>A_TTVRCAECKTVFYQSCQAVVKKGCP
19:37101626-37101626 C>T	1.0	4301	MELANOMA	-	-	-	-	ZNF382	ENST00000439428,p.P71S|NM_001256838,p.P71S|ENST00000292928,p.P72S|uc010efb.4,p.P71S|NM_032825,p.P72S|uc002oek.4,p.P72S|ENST00000590785,p.P23S|uc010efa.3,p.P23S|ENST00000423582,p.P23S	retained_intron, protein_coding	uc010efb.4	nonsynonymous SNV	exon4	c.C211T	p.P71S	EQGEELWTQRIFPSYSYLEEDGKTE	EQGEELWTQRIFSSYSYLEEDGKTE	6.0	8.0	-	-	4301_19:37101626-37101626 C>T_EQGEELWTQRIFSSYSYLEEDGKTE
19:37101626-37101626 C>T	1.0	4301	MELANOMA	-	-	-	-	ZNF382	uc002oel.3,p.P72S|ENST00000435416,p.P72S	retained_intron, protein_coding	uc002oel.3	nonsynonymous SNV	exon2	c.C214T	p.P72S	EQGEELWTQRIFPSYSYLEDGKTED	EQGEELWTQRIFSSYSYLEDGKTED	6.0	8.0	-	-	4301_19:37101626-37101626 C>T_EQGEELWTQRIFSSYSYLEDGKTED
5:140784024-140784024 C>T	1.0	4301	MELANOMA	-	-	-	-	PCDHGA9	uc003lkh.2,p.S502F|uc011dax.2,p.S502F|NM_018921,p.S502F|NM_032089,p.S502F|ENST00000573521,p.S502F	protein_coding	uc011dax.2	nonsynonymous SNV	exon1	c.C1505T	p.S502F	SLAEDTIQGSPLSTYVSINSDTGVL	SLAEDTIQGSPLFTYVSINSDTGVL	6.0	6.0	-	-	4301_5:140784024-140784024 C>T_SLAEDTIQGSPLFTYVSINSDTGVL
19:53270609-53270609 G>A	1.0	4301	MELANOMA	-	-	-	-	ZNF600	uc021uyz.1,p.H134Y|ENST00000338230,p.H134Y|uc002qab.4,p.H134Y|NM_198457,p.H134Y	protein_coding, processed_transcript	uc021uyz.1	nonsynonymous SNV	exon1	c.C400T	p.H134Y	STSQRISPRPQIHISNNYGNNSPNS	STSQRISPRPQIYISNNYGNNSPNS	8.0	3.0	-	-	4301_19:53270609-53270609 G>A_STSQRISPRPQIYISNNYGNNSPNS
16:72827265-72827265 G>A	1.0	4301	MELANOMA	-	-	-	1	ZFHX3	NM_001164766,p.L2192F|ENST00000397992,p.L2192F|NM_006885,p.L3106F|ENST00000268489,p.L3106F|uc002fck.3,p.L3106F|uc002fcl.3,p.L2192F	retained_intron, protein_coding	uc002fcl.3	nonsynonymous SNV	exon8	c.C6574T	p.L2192F	AAQQQGMFDNTPLQALNLPTAYPAL	AAQQQGMFDNTPFQALNLPTAYPAL	6.0	5.0	-	-	4301_16:72827265-72827265 G>A_AAQQQGMFDNTPFQALNLPTAYPAL
7:133160209-133160209 C>T	1.0	4301	MELANOMA	-	-	ID=COSM1548154;OCCURENCE=1(lung)	-	EXOC4	NM_021807,p.P437L|NM_001037126,p.P437L|uc003vrj.3,p.P437L|ENST00000253861,p.P437L|uc003vri.3,p.P437L|uc011kpo.2,p.P336L|ENST00000393161,p.P437L|uc003vrk.3,p.P437L|ENST00000539845,p.P336L	retained_intron, protein_coding, processed_transcript	uc011kpo.2	nonsynonymous SNV	exon8	c.C1007T	p.P336L	FAAFFAKKKPQRPKNSLFKFESSSH	FAAFFAKKKPQRLKNSLFKFESSSH	9.0	10.0	CD8	-	4301_7:133160209-133160209 C>T_FAAFFAKKKPQRLKNSLFKFESSSH
2:198949998-198949998 C>T	1.0	4301	MELANOMA	-	rs72556386	-	-	PLCL1	ENST00000428675,p.S586F|uc010fsp.3,p.S586F|ENST00000487695,p.S512F|ENST00000437704,p.S488F|uc002uuv.4,p.S507F|NM_006226,p.S586F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010fsp.3	nonsynonymous SNV	exon2	c.C1757T	p.S586F	GEQKQIRLCRELSDLVSICKSVQYR	GEQKQIRLCRELFDLVSICKSVQYR	7.0	8.0	-	-	4301_2:198949998-198949998 C>T_GEQKQIRLCRELFDLVSICKSVQYR
12:57584715-57584715 C>T	1.0	4301	MELANOMA	-	-	ID=COSM1724102;OCCURENCE=2(NS)	-	LRP1	NM_002332,p.R2387C|ENST00000243077,p.R2387C|uc001snd.3,p.R2387C	retained_intron, protein_coding, processed_transcript	uc001snd.3	nonsynonymous SNV	exon43	c.C7159T	p.R2387C	DIRTPNGLAIDHRAEKLYFSDATLD	DIRTPNGLAIDHCAEKLYFSDATLD	8.0	4.0	-	-	4301_12:57584715-57584715 C>T_DIRTPNGLAIDHCAEKLYFSDATLD
1:231047271-231047271 T>C	1.0	4301	MELANOMA	0.0005	-	-	-	TTC13	uc001huf.4,p.I752V|ENST00000366662,p.I698V|NM_001122835,p.I698V|uc009xfk.2,p.I641V|uc001hug.4,p.I698V|ENST00000414259,p.I699V|NM_024525,p.I752V|ENST00000366661,p.I752V	retained_intron, protein_coding, nonsense_mediated_decay	uc009xfk.2	nonsynonymous SNV	exon16	c.A1921G	p.I641V	SEFGEADAVCNLILSLVYYFYNLMP	SEFGEADAVCNLVLSLVYYFYNLMP	9.0	10.0	-	-	4301_1:231047271-231047271 T>C_SEFGEADAVCNLVLSLVYYFYNLMP
19:10472450-10472450 G>A	1.0	4301	MELANOMA	-	-	-	-	TYK2	ENST00000525621,p.A652V|uc010dxe.3,p.A467V|ENST00000264818,p.A652V|NM_003331,p.A652V|uc002mod.2,p.A652V|ENST00000524462,p.A467V|ENST00000529370,p.A652V|uc002moc.4,p.A652V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dxe.3	nonsynonymous SNV	exon9	c.C1400T	p.A467V	VLKVLDPSHHDIALAFYETASLMSQ	VLKVLDPSHHDIVLAFYETASLMSQ	10.0	8.0	-	-	4301_19:10472450-10472450 G>A_VLKVLDPSHHDIVLAFYETASLMSQ
5:136975627-136975627 G>A	1.0	4301	MELANOMA	-	-	-	-	KLHL3	uc010jem.1,p.R275C|uc011cyc.2,p.R84C|uc010jel.1,p.R84C|ENST00000309755,p.R315C|uc010jek.3,p.R315C|ENST00000506491,p.R233C|uc003lbr.5,p.R233C|NM_001257195,p.R233C|ENST00000505853,p.R275C|NM_001257194,p.R283C|uc031sle.1,p.R283C|ENST00000508657,p.R283C|NM_017415,p.R315C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031sle.1	nonsynonymous SNV	exon9	c.C847T	p.R283C	MIVVGGQAPKAIRSVECYDFEEDRW	MIVVGGQAPKAICSVECYDFEEDRW	7.0	4.0	-	-	4301_5:136975627-136975627 G>A_MIVVGGQAPKAICSVECYDFEEDRW
X:18924630-18924630 C>T	1.0	4301	MELANOMA	0.0012	-	-	-	PHKA2	NM_000292,p.R930Q|ENST00000379942,p.R930Q|uc004cyv.4,p.R930Q	protein_coding, processed_transcript	uc004cyv.4	nonsynonymous SNV	exon25	c.G2789A	p.R930Q	GLIIQVMATELARSLNCSGEEASES	GLIIQVMATELAQSLNCSGEEASES	8.0	2.0	-	-	4301_X:18924630-18924630 C>T_GLIIQVMATELAQSLNCSGEEASES
21:33073453-33073453 G>A	1.0	4301	MELANOMA	-	-	-	-	SCAF4	uc010glu.2,p.P196L|ENST00000434667,p.P196L|NM_001145444,p.P196L|ENST00000286835,p.P211L|uc002ype.2,p.P211L|uc002ypd.2,p.P211L|uc002ypg.2,p.P211L|NM_001145445,p.P211L|ENST00000399804,p.P211L|NM_020706,p.P211L	retained_intron, protein_coding	uc010glu.2	nonsynonymous SNV	exon6	c.C587T	p.P196L	QQLQQILQTFQQPPKPQSPALDNAV	QQLQQILQTFQQLPKPQSPALDNAV	8.0	8.0	-	-	4301_21:33073453-33073453 G>A_QQLQQILQTFQQLPKPQSPALDNAV
1:200378678-200378678 ->AT	0.0	4301	MELANOMA	-	-	-	-	ZNF281	NM_001281293,p.M52fs|ENST00000367353,p.M52fs|NM_012482,p.M52fs|uc001gvf.1,p.M52fs|uc021phb.1,p.M52fs|uc001gve.3,p.M52fs|ENST00000294740,p.M52fs	protein_coding	uc021phb.1	frameshift insertion	exon1	c.155_156insAT	p.M52fs	AEMEPTFPQGMVMFNHRLPPVTSFT	AEMEPTFPQGMVICSTTVFPRSPASPGRRGRPPLPRNACYPPLPPQPRPLSPPLRQPRT	8.0	5.0	-	-	4301_1:200378678-200378678 ->AT_AEMEPTFPQGMVICSTTVFPRSPASPGRRGRPPLPRNACYPPLPPQPRPLSPPLRQPRT
19:53303809-53303809 C>G	1.0	4301	MELANOMA	-	-	-	-	ZNF28	ENST00000438150,p.S377T|ENST00000360272,p.S377T|NM_006969,p.S430T|ENST00000391783,p.S377T|uc010eqe.3,p.S376T|ENST00000457749,p.S430T|uc002qac.3,p.S376T|ENST00000414252,p.S377T|uc002qad.3,p.S430T	protein_coding, processed_transcript	uc010eqe.3	nonsynonymous SNV	exon3	c.G1127C	p.S376T	KAFAYNSYLAKHSIIHTGEKPYKCN	KAFAYNSYLAKHTIIHTGEKPYKCN	8.0	1.0	-	-	4301_19:53303809-53303809 C>G_KAFAYNSYLAKHTIIHTGEKPYKCN
21:15599340-15599340 A>G	1.0	4301	MELANOMA	-	-	-	-	RBM11	uc002yjo.4,p.H191R|uc002yjn.4,p.H77R|NM_144770,p.H191R|ENST00000400577,p.H191R|uc002yjp.4,p.H77R	retained_intron, protein_coding, processed_transcript	uc002yjp.4	nonsynonymous SNV	exon4	c.A230G	p.H77R	DLEAGPSSYKWTHQQPSDSDLYQMT	DLEAGPSSYKWTRQQPSDSDLYQMT	7.0	2.0	-	-	4301_21:15599340-15599340 A>G_DLEAGPSSYKWTRQQPSDSDLYQMT
6:15507482-15507482 C>T	1.0	4301	MELANOMA	-	-	ID=COSM1075252;OCCURENCE=2(endometrium)	-	JARID2	ENST00000341776,p.S886L|NM_001267040,p.S714L|NM_004973,p.S886L|uc003nbj.4,p.S886L|ENST00000541660,p.S848L|uc011div.3,p.S714L|ENST00000397311,p.S714L|uc011diw.1,p.S848L	protein_coding, processed_transcript	uc011diw.1	nonsynonymous SNV	exon9	c.C2543T	p.S848L	GSGFPVGKSEPFSRHGWNLTVLPNN	GSGFPVGKSEPFLRHGWNLTVLPNN	8.0	8.0	-	-	4301_6:15507482-15507482 C>T_GSGFPVGKSEPFLRHGWNLTVLPNN
10:50944560-50944560 C>T	1.0	4301	MELANOMA	-	-	-	-	OGDHL	uc010qgt.2,p.S809N|uc001jie.3,p.S866N|NM_001143997,p.S657N|NM_001143996,p.S809N|uc010qgu.2,p.S657N|uc009xog.3,p.S893N|ENST00000432695,p.S657N|ENST00000374103,p.S866N|ENST00000419399,p.S809N|NM_018245,p.S866N	protein_coding, processed_transcript	uc010qgu.2	nonsynonymous SNV	exon19	c.G1970A	p.S657N	AKSSFDQMVSGTSFQRVIPEDGAAA	AKSSFDQMVSGTNFQRVIPEDGAAA	7.0	2.0	-	-	4301_10:50944560-50944560 C>T_AKSSFDQMVSGTNFQRVIPEDGAAA
X:47061766-47061766 G>A	1.0	4301	MELANOMA	-	-	-	-	UBA1	ENST00000377351,p.V307M|uc004dhj.4,p.V307M|NM_003334,p.V307M|uc004dhk.4,p.V307M|NM_153280,p.V307M|ENST00000335972,p.V307M	protein_coding, processed_transcript	uc004dhk.4	nonsynonymous SNV	exon10	c.G919A	p.V307M	VKVPKKISFKSLVASLAEPDFVVTD	VKVPKKISFKSLMASLAEPDFVVTD	10.0	4.0	-	-	4301_X:47061766-47061766 G>A_VKVPKKISFKSLMASLAEPDFVVTD
8:145998745-145998745 G>A	1.0	4301	MELANOMA	-	-	-	-	ZNF34	uc010mgb.3,p.P427L|NM_001286770,p.P490L|NM_030580,p.P530L|uc003zdy.4,p.P530L|ENST00000343459,p.P530L|ENST00000429371,p.P509L|uc003zdx.4,p.P509L|NM_001286769,p.P509L	retained_intron, protein_coding	uc010mgb.3	nonsynonymous SNV	exon3	c.C1280T	p.P427L	LIQHRRIHTGEKPYKCSECGKAFRH	LIQHRRIHTGEKLYKCSECGKAFRH	7.0	7.0	-	-	4301_8:145998745-145998745 G>A_LIQHRRIHTGEKLYKCSECGKAFRH
12:7019169-7019169 C>T	1.0	4301	MELANOMA	-	-	-	-	LRRC23	ENST00000323702,p.S246L|NM_006992,p.S246L|uc001qrq.3,p.S246L|uc001qrs.3,p.S195L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001qrs.3	nonsynonymous SNV	exon5	c.C584T	p.S195L	IDTLSGFSREMKSLQYLNLRRSKTL	IDTLSGFSREMKLLQYLNLRRSKTL	7.0	1.0	-	-	4301_12:7019169-7019169 C>T_IDTLSGFSREMKLLQYLNLRRSKTL
12:7019169-7019169 C>T	1.0	4301	MELANOMA	-	-	-	-	LRRC23	ENST00000443597,p.S246L|ENST00000007969,p.S246L|uc001qrt.4,p.S246L|NM_201650,p.S246L|uc001qrp.3,p.S246L|NM_001135217,p.S246L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001qrt.4	nonsynonymous SNV	exon6	c.C737T	p.S246L	IDTLSGFSREMKSLQYLNLRGNMVA	IDTLSGFSREMKLLQYLNLRGNMVA	7.0	1.0	-	-	4301_12:7019169-7019169 C>T_IDTLSGFSREMKLLQYLNLRGNMVA
3:170893114-170893114 A>G	1.0	4301	MELANOMA	-	-	-	-	TNIK	NM_015028,p.C234R|NM_001161566,p.C234R|NM_001161565,p.C234R|ENST00000468757,p.C208R|ENST00000341852,p.C234R|uc003fhh.2,p.C234R|ENST00000475336,p.C234R|ENST00000470834,p.C234R|NM_001161560,p.C234R|ENST00000488470,p.C234R|ENST00000357327,p.C234R|uc003fhl.2,p.C234R|ENST00000460047,p.C234R|uc003fho.2,p.C234R|NM_001161564,p.C234R|NM_001161561,p.C234R|ENST00000284483,p.C234R|uc003fhn.2,p.C234R|ENST00000436636,p.C234R|NM_001161563,p.C234R|ENST00000369326,p.C234R|uc003fhi.2,p.C234R|NM_001161562,p.C234R|uc003fhj.2,p.C234R|ENST00000538048,p.C234R|uc003fhm.2,p.C234R|uc003fhk.2,p.C234R	retained_intron, protein_coding, processed_transcript	uc003fho.2	nonsynonymous SNV	exon9	c.T700C	p.C234R	TAIEMAEGAPPLCDMHPMRALFLIP	TAIEMAEGAPPLRDMHPMRALFLIP	8.0	2.0	-	-	4301_3:170893114-170893114 A>G_TAIEMAEGAPPLRDMHPMRALFLIP
12:116435017-116435017 C>T	1.0	4301	MELANOMA	-	-	-	-	MED13L	ENST00000281928,p.R863K|uc001tvw.3,p.R863K|NM_015335,p.R863K	retained_intron, protein_coding, processed_transcript	uc001tvw.3	nonsynonymous SNV	exon15	c.G2588A	p.R863K	AVPYPPTVADLQRMFPTPPSLEQHP	AVPYPPTVADLQKMFPTPPSLEQHP	8.0	1.0	-	-	4301_12:116435017-116435017 C>T_AVPYPPTVADLQKMFPTPPSLEQHP
7:27148142-27148142 G>A	1.0	4301	MELANOMA	-	-	-	-	HOXA3	NM_030661,p.R242C|uc011jzl.2,p.R242C|NM_153631,p.R242C|ENST00000396352,p.R242C|ENST00000317201,p.R242C|uc003syk.3,p.R242C	protein_coding, processed_transcript	uc011jzl.2	nonsynonymous SNV	exon3	c.C724T	p.R242C	LTERQIKIWFQNRRMKYKKDQKGKG	LTERQIKIWFQNCRMKYKKDQKGKG	6.0	7.0	-	-	4301_7:27148142-27148142 G>A_LTERQIKIWFQNCRMKYKKDQKGKG
7:100228651-100228651 G>A	1.0	4301	MELANOMA	-	-	-	-	TFR2	ENST00000431692,p.P292S	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000431692	nonsynonymous SNV	exon7	c.C874T	p.P292S	FAQKEAQRPCGPPRMAGEPPRLPLS	FAQKEAQRPCGPSRMAGEPPRLPLS	5.0	10.0	-	-	4301_7:100228651-100228651 G>A_FAQKEAQRPCGPSRMAGEPPRLPLS
17:66423344-66423344 G>A, 17:66423345-66423345 G>A	1.0	4301	MELANOMA	-	-	-	-	WIPI1	ENST00000546360,p.P293L|uc010wqo.2,p.P293L|uc010dey.3,p.P375L|ENST00000591744,p.P143L|ENST00000262139,p.P375L|NM_017983,p.P375L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wqo.2	nonsynonymous SNV	exon10	c.C877T, c.C878T	p.P293F	GTTEENKENDLRPSLPQSYAATVAR	GTTEENKENDLRFSLPQSYAATVAR	9.0	2.0	-	Dincleotide variant, 17:66423345-66423345 G>A, residue 13 P>F PR	4301_17:66423344-66423344 G>A, 17:66423345-66423345 G>A_GTTEENKENDLRFSLPQSYAATVAR
7:1535858-1535858 T>A	1.0	4301	MELANOMA	-	-	-	-	INTS1	NM_001080453,p.M549L|ENST00000404767,p.M549L|uc003skn.2,p.M549L|ENST00000389470,p.M677L	retained_intron, protein_coding, processed_transcript	uc003skn.2	nonsynonymous SNV	exon12	c.A1645T	p.M549L	FVVHITDVLAVSMMLGITAQVKEAG	FVVHITDVLAVSLMLGITAQVKEAG	9.0	10.0	-	-	4301_7:1535858-1535858 T>A_FVVHITDVLAVSLMLGITAQVKEAG
3:152174058-152174058 C>T	1.0	4301	MELANOMA	-	-	-	-	MBNL1	uc003ezi.3,p.P322S|ENST00000485910,p.P254S|ENST00000282486,p.P340S|ENST00000282488,p.P254S|ENST00000463374,p.P340S|NM_207292,p.P322S|NM_207294,p.P254S|uc003ezo.3,p.P254S|NM_207293,p.P340S|ENST00000355460,p.P322S|uc003ezm.3,p.P340S	retained_intron, protein_coding, processed_transcript	uc003ezo.3	nonsynonymous SNV	exon5	c.C760T	p.P254S	QLQQHTAFLPPVPMVHGATPATVSA	QLQQHTAFLPPVSMVHGATPATVSA	10.0	6.0	-	-	4301_3:152174058-152174058 C>T_QLQQHTAFLPPVSMVHGATPATVSA
14:104638121-104638121 C>T	0.0	4301	MELANOMA	-	-	-	-	KIF26A	NM_015656,p.S392F|ENST00000315264,p.S253F|ENST00000423312,p.S392F|uc001yos.4,p.S392F	protein_coding	uc001yos.4	nonsynonymous SNV	exon6	c.C1175T	p.S392F	PAQGAQRSAEAMSFLKVDPRKKQVI	PAQGAQRSAEAMFFLKVDPRKKQVI	6.0	8.0	-	-	4301_14:104638121-104638121 C>T_PAQGAQRSAEAMFFLKVDPRKKQVI
10:46342668-46342688 GCTCCTGCCATCCTGTCCCCA>-	0.0	4301	MELANOMA	-	-	ID=COSM301646;OCCURENCE=1(central_nervous_system),1(NS)	-	AGAP4	uc010qfl.2,p.36_43del|NM_001276343,p.36_43del|NM_133446,p.36_43del|uc001jcx.4,p.36_43del|uc021pps.1,p.36_43del	retained_intron, protein_coding, processed_transcript	uc021pps.1	nonframeshift deletion	exon1	c.108_128del	p.36_43del	VCPSESEIYEAGAGDRMAGAPMAAA	VCPSESEIYEAGAPMAAAVQPAEVT	7.0	6.0	-	-	4301_10:46342668-46342688 GCTCCTGCCATCCTGTCCCCA>-_VCPSESEIYEAGAPMAAAVQPAEVT
7:140453125-140453125 A>C, 7:140453136-140453136 A>T	1.0	4301	MELANOMA	-	-	ID=COSM476;OCCURENCE=3(adrenal_gland),3(urinary_tract),4(genital_tract),7(pancreas),16(liver),68(eye),2(prostate),4161(large_intestine),21(biliary_tract),11(breast),4377(skin),9(small_intestine),1(autonomic_ganglia),20(pituitary),242(ovary),32(soft_tissue),7(testis),459(haematopoietic_and_lymphoid_tissue),9534(thyroid),78(lung),1(meninges),12(upper_aerodigestive_tract),717(NS),15(bone),2(oesophagus),4(stomach),228(central_nervous_system)	1	BRAF	NM_004333,p.V600E|uc003vwc.4,p.V600E|ENST00000288602,p.V600E|ENST00000479537,p.V28E	retained_intron, protein_coding, nonsense_mediated_decay	uc003vwc.4	nonsynonymous SNV	exon15	c.T1799A, c.T1810G	p.V600E, p.W604G	LTVKIGDFGLATVKSRWSGSHQFEQ	LTVKIGDFGLATEKSRGSGSHQFEQ	8.0	10.0	-	Additional variant within 36 nucleotides, 7:140453125-140453125 A>C PR, residue 17 W>G PR	4301_7:140453125-140453125 A>C, 7:140453136-140453136 A>T_LTVKIGDFGLATEKSRGSGSHQFEQ
1:8384490-8384490 C>T	0.0	4301	MELANOMA	-	-	-	-	SLC45A1	uc001apb.3,p.S34F|NM_001080397,p.S68F|ENST00000471889,p.S34F|ENST00000377479,p.S68F|ENST00000289877,p.S34F	retained_intron, protein_coding, processed_transcript	uc001apb.3	nonsynonymous SNV	exon1	c.C101T	p.S34F	DFWRSQVTGYSGSVTRHLSHRANNF	DFWRSQVTGYSGFVTRHLSHRANNF	5.0	9.0	-	-	4301_1:8384490-8384490 C>T_DFWRSQVTGYSGFVTRHLSHRANNF
12:109936071-109936071 C>T	1.0	4301	MELANOMA	-	-	ID=COSM934829;OCCURENCE=1(large_intestine),1(endometrium)	-	UBE3B	ENST00000449510,p.R285C|ENST00000539599,p.R285C|ENST00000342494,p.R285C|uc001top.4,p.R285C|NM_183415,p.R285C|NM_130466,p.R285C|uc009zvj.2,p.R285C|ENST00000434735,p.R285C|ENST00000280774,p.R285C|uc001toq.4,p.R285C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zvj.2	nonsynonymous SNV	exon10	c.C853T	p.R285C	ERLTVLESHDMLRKFIIFLRDQDRC	ERLTVLESHDMLCKFIIFLRDQDRC	8.0	2.0	-	-	4301_12:109936071-109936071 C>T_ERLTVLESHDMLCKFIIFLRDQDRC
3:152174058-152174058 C>T	1.0	4301	MELANOMA	-	-	-	-	MBNL1	ENST00000324210,p.P334S|ENST00000465907,p.P266S|uc003ezh.3,p.P334S|uc003ezj.3,p.P295S|uc003ezn.3,p.P266S|NM_207295,p.P266S|ENST00000545754,p.P266S|ENST00000493459,p.P295S|NM_021038,p.P334S	retained_intron, protein_coding, processed_transcript	uc003ezn.3	nonsynonymous SNV	exon6	c.C796T	p.P266S	SILCMTPATSVVPMVHGATPATVSA	SILCMTPATSVVSMVHGATPATVSA	10.0	6.0	-	-	4301_3:152174058-152174058 C>T_SILCMTPATSVVSMVHGATPATVSA
1:15430636-15430636 C>T	1.0	4301	MELANOMA	-	-	-	-	KAZN	uc001avm.4,p.L667F|uc001avs.4,p.L114F|ENST00000376030,p.L667F|NM_201628,p.L667F	retained_intron, protein_coding	uc001avs.4	nonsynonymous SNV	exon3	c.C340T	p.L114F	ATALGIPSGKHILRRHLAEEMSAVF	ATALGIPSGKHIFRRHLAEEMSAVF	7.0	4.0	-	-	4301_1:15430636-15430636 C>T_ATALGIPSGKHIFRRHLAEEMSAVF
10:98714868-98714868 T>G	1.0	4301	MELANOMA	-	-	-	-	LCOR	ENST00000356016,p.L164R|uc001kms.2,p.L164R|ENST00000371097,p.L164R|NM_032440,p.L164R|NM_001170766,p.L164R|ENST00000371103,p.L164R|ENST00000540664,p.L164R|uc001kmr.3,p.L164R|NM_001170765,p.L164R|uc001kmu.2,p.L164R	protein_coding, processed_transcript	uc001kmu.2	nonsynonymous SNV	exon8	c.T491G	p.L164R	PLARSLQISEELLSRNQLSTAASLG	PLARSLQISEELRSRNQLSTAASLG	8.0	3.0	-	-	4301_10:98714868-98714868 T>G_PLARSLQISEELRSRNQLSTAASLG
4:79437012-79437012 C>T	1.0	4301	MELANOMA	0.0014	-	-	-	FRAS1	uc003hlb.2,p.R3412C|ENST00000264895,p.R3412C|NM_025074,p.R3412C	retained_intron, protein_coding, nonsense_mediated_decay	uc003hlb.2	nonsynonymous SNV	exon66	c.C10234T	p.R3412C	VYDSTALGPGYDRPFQFDPSVREPK	VYDSTALGPGYDCPFQFDPSVREPK	6.0	6.0	-	-	4301_4:79437012-79437012 C>T_VYDSTALGPGYDCPFQFDPSVREPK
6:155485571-155485571 T>G	1.0	4301	MELANOMA	-	-	-	-	TIAM2	uc003qqb.3,p.L684R|ENST00000529824,p.L684R|uc003qqf.3,p.L36R|uc003qqe.3,p.L684R|ENST00000360366,p.L684R|ENST00000528535,p.L684R|ENST00000456144,p.L684R|NM_012454,p.L684R|ENST00000367174,p.L36R|ENST00000461783,p.L684R|ENST00000318981,p.L684R|uc010kjj.3,p.L217R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kjj.3	nonsynonymous SNV	exon4	c.T650G	p.L217R	AIENQIQQWEQNLEKFHMDLFRMRC	AIENQIQQWEQNREKFHMDLFRMRC	7.0	8.0	-	-	4301_6:155485571-155485571 T>G_AIENQIQQWEQNREKFHMDLFRMRC
12:70946726-70946726 G>A	0.0	4301	MELANOMA	-	-	-	1	PTPRB	NM_001206971,p.R1432W|ENST00000550358,p.R1652W|uc010stp.2,p.R1432W|uc001swc.4,p.R1740W|uc001swa.4,p.R1652W|ENST00000550857,p.R1432W|uc001swb.4,p.R1522W|ENST00000538708,p.R1432W|ENST00000261266,p.R1522W|NM_002837,p.R1522W|ENST00000451516,p.R1432W|uc010sto.2,p.R1432W|NM_001109754,p.R1740W|NM_001206972,p.R1432W|ENST00000334414,p.R1740W	retained_intron, protein_coding, processed_transcript	uc010stp.2	nonsynonymous SNV	exon18	c.C4294T	p.R1432W	PSYLEYRHNASIRVYQTNYFASKCA	PSYLEYRHNASIWVYQTNYFASKCA	7.0	8.0	-	-	4301_12:70946726-70946726 G>A_PSYLEYRHNASIWVYQTNYFASKCA
15:88472414-88472414 C>A	0.0	4301	MELANOMA	-	-	-	1	NTRK3	uc010bnh.1,p.X706L|ENST00000558676,p.X706L	protein_coding, processed_transcript	uc010bnh.1	stoploss	exon14	c.G2117T	p.X706L	RDVYSTDYYRVK	RDVYSTDYYRVKLLSQLQDSATELAPCLHVFFIVH	6.0	7.0	-	translated beyond stop codon This mutation type can not produce mer (stoploss,p.X706L,c.G2117T,uc010bnh.1) PR	4301_15:88472414-88472414 C>A_RDVYSTDYYRVKLLSQLQDSATELAPCLHVFFIVH
16:58030774-58030774 G>A	1.0	4301	MELANOMA	-	-	-	-	ZNF319	uc002emx.1,p.R466C|NM_020807,p.R466C|ENST00000299237,p.R466C|uc021tjd.1,p.R466C	protein_coding	uc021tjd.1	nonsynonymous SNV	exon1	c.C1396T	p.R466C	AEKPLRCTLCERRFFSSSEFVQHRC	AEKPLRCTLCERCFFSSSEFVQHRC	7.0	5.0	-	-	4301_16:58030774-58030774 G>A_AEKPLRCTLCERCFFSSSEFVQHRC
7:30793422-30793422 C>T	0.0	4301	MELANOMA	-	-	-	-	INMT	ENST00000013222,p.S77F|NM_006774,p.S77F|uc010kwd.1,p.S76F|NM_001199219,p.S76F|ENST00000458257,p.S76F|ENST00000409539,p.S76F|uc003tbs.1,p.S77F	 processed_transcript,protein_coding	uc010kwd.1	nonsynonymous SNV	exon2	c.C227T	p.S76F	GPTIYQVLAACDSFQDITLSDFTDR	GPTIYQVLAACDFFQDITLSDFTDR	7.0	6.0	-	-	4301_7:30793422-30793422 C>T_GPTIYQVLAACDFFQDITLSDFTDR
8:106815650-106815650 G>A	0.0	4301	MELANOMA	-	-	-	-	ZFPM2	uc003ymd.3,p.A1114T|ENST00000378472,p.A845T|uc011lhs.2,p.A845T|ENST00000520492,p.A982T|ENST00000517361,p.A982T|NM_012082,p.A1114T|ENST00000407775,p.A1114T	protein_coding, processed_transcript	uc011lhs.2	nonsynonymous SNV	exon6	c.G2533A	p.A845T	SSIAKGVNGSSQAPTSGKYCRLCDI	SSIAKGVNGSSQTPTSGKYCRLCDI	6.0	3.0	-	-	4301_8:106815650-106815650 G>A_SSIAKGVNGSSQTPTSGKYCRLCDI
7:140301539-140301539 G>A	0.0	4301	MELANOMA	0.0027	-	-	-	DENND2A	ENST00000275884,p.S220L|uc003vvw.3,p.S220L|ENST00000492720,p.S220L|ENST00000537639,p.S220L|uc010lnk.3,p.S220L|ENST00000496613,p.S220L|uc003vvx.3,p.S220L|NM_015689,p.S220L|uc010lnj.3,p.S220L|ENST00000461883,p.S220L	protein_coding, nonsense_mediated_decay	uc010lnk.3	nonsynonymous SNV	exon3	c.C659T	p.S220L	GSGSEVSQRVHPSDLEGREPTPELV	GSGSEVSQRVHPLDLEGREPTPELV	6.0	8.0	-	-	4301_7:140301539-140301539 G>A_GSGSEVSQRVHPLDLEGREPTPELV
1:229770848-229770848 G>A	1.0	4301	MELANOMA	-	-	-	-	URB2	uc009xfd.1,p.G163E|NM_014777,p.G163E|ENST00000258243,p.G163E|uc001hts.1,p.G163E	protein_coding	uc009xfd.1	nonsynonymous SNV	exon4	c.G488A	p.G163E	SQLCWSACRQPEGAVVAQLFEVIHL	SQLCWSACRQPEEAVVAQLFEVIHL	7.0	10.0	-	-	4301_1:229770848-229770848 G>A_SQLCWSACRQPEEAVVAQLFEVIHL
4:169300565-169300565 T>A	1.0	4301	MELANOMA	-	-	-	-	DDX60L	ENST00000511577,p.N1438Y|NM_001012967,p.N1438Y|ENST00000260184,p.N1438Y|uc003irq.4,p.N1438Y|uc021xuh.1,p.N1438Y	retained_intron, protein_coding, processed_transcript	uc021xuh.1	nonsynonymous SNV	exon31	c.A4312T	p.N1438Y	LHGHEPSNLVFVNFLKRGLFHNLCK	LHGHEPSNLVFVYFLKRGLFHNLCK	8.0	4.0	-	-	4301_4:169300565-169300565 T>A_LHGHEPSNLVFVYFLKRGLFHNLCK
19:35941391-35941391 G>A	0.0	4301	MELANOMA	-	-	-	-	FFAR2	ENST00000246549,p.V259M|ENST00000599180,p.V259M|uc002nzg.2,p.V259M|NM_005306,p.V259M|uc010eea.3,p.V259M	protein_coding, processed_transcript	uc010eea.3	nonsynonymous SNV	exon1	c.G775A	p.V259M	HQRKSPWWRSIAVVFSSLNASLDPL	HQRKSPWWRSIAMVFSSLNASLDPL	6.0	4.0	-	-	4301_19:35941391-35941391 G>A_HQRKSPWWRSIAMVFSSLNASLDPL
1:228505294-228505294 G>A	0.0	4301	MELANOMA	-	-	-	-	OBSCN	ENST00000366707,p.G2198E|uc001hsn.4,p.G4564E|uc001hsq.2,p.G5521E|uc009xez.2,p.G4564E|ENST00000570156,p.G5521E|ENST00000366709,p.G1683E|ENST00000284548,p.G4564E|NM_001271223,p.G5521E|NM_052843,p.G4564E|NM_001098623,p.G4564E|ENST00000422127,p.G4564E	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon52	c.G13691A	p.G4564E	GGLCGYRVEVKEGATGQWRLCHELV	GGLCGYRVEVKEEATGQWRLCHELV	7.0	10.0	-	-	4301_1:228505294-228505294 G>A_GGLCGYRVEVKEEATGQWRLCHELV
19:18778920-18778920 C>T	1.0	4301	MELANOMA	-	-	-	-	KLHL26	NM_018316,p.P238L|uc002njz.1,p.P238L|ENST00000300976,p.P238L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002njz.1	nonsynonymous SNV	exon3	c.C713T	p.P238L	LFRAAVRWLQHDPARRPRASHVLCH	LFRAAVRWLQHDLARRPRASHVLCH	6.0	7.0	-	-	4301_19:18778920-18778920 C>T_LFRAAVRWLQHDLARRPRASHVLCH
3:4735212-4735212 C>A	0.0	4301	MELANOMA	-	-	-	-	ITPR1	NM_002222,p.N1332K|ENST00000423119,p.N1347K|ENST00000456211,p.N1332K|uc021wsi.1,p.N1347K|ENST00000302640,p.N1341K|uc003bqc.3,p.N1341K|ENST00000443694,p.N1341K|ENST00000354582,p.N1356K|NM_001168272,p.N1341K|uc021wsj.1,p.N1332K|ENST00000357086,p.N1347K|NM_001099952,p.N1347K	retained_intron, protein_coding, processed_transcript	uc021wsj.1	nonsynonymous SNV	exon32	c.C3996A	p.N1332K	LVNSGEDVLVFYNDRASFQTLIQMM	LVNSGEDVLVFYKDRASFQTLIQMM	9.0	6.0	-	-	4301_3:4735212-4735212 C>A_LVNSGEDVLVFYKDRASFQTLIQMM
15:51217323-51217323 T>C	1.0	4301	MELANOMA	-	-	-	-	AP4E1	ENST00000560508,p.V75A|NM_001252127,p.V75A|NM_007347,p.V150A|ENST00000561393,p.V75A|ENST00000261842,p.V150A|uc001zyx.2,p.V150A|uc021skz.1,p.V75A|ENST00000561441,p.V150A|uc010ufi.2,p.V150A|ENST00000558439,p.V150A	protein_coding, processed_transcript, nonsense_mediated_decay	uc021skz.1	nonsynonymous SNV	exon5	c.T224C	p.V75A	VVKDLQSTNLVEVCMALTVVSQIFP	VVKDLQSTNLVEACMALTVVSQIFP	7.0	6.0	-	-	4301_15:51217323-51217323 T>C_VVKDLQSTNLVEACMALTVVSQIFP
11:40137130-40137130 G>A	0.0	4301	MELANOMA	-	-	-	-	LRRC4C	uc001mxb.2,p.S234F|uc021qgf.1,p.S238F|ENST00000278198,p.S238F|uc031pzs.1,p.S234F|ENST00000528697,p.S238F|uc031pzu.1,p.S238F|NM_020929,p.S238F|uc031pzt.1,p.S238F|ENST00000527150,p.S238F|ENST00000530763,p.S238F|NM_001258419,p.S238F	protein_coding, processed_transcript	uc031pzu.1	nonsynonymous SNV	exon5	c.C713T	p.S238F	LSGNHLSAIRPGSFQGLMHLQKLWM	LSGNHLSAIRPGFFQGLMHLQKLWM	6.0	3.0	-	-	4301_11:40137130-40137130 G>A_LSGNHLSAIRPGFFQGLMHLQKLWM
19:19656689-19656689 C>T	1.0	4301	MELANOMA	-	-	-	-	CILP2	ENST00000586018,p.P1118L|uc002nmw.4,p.P1118L|NM_153221,p.P1112L|ENST00000291495,p.P1112L|uc002nmv.4,p.P1112L	retained_intron, protein_coding	uc002nmw.4	nonsynonymous SNV	exon8	c.C3353T	p.P1118L	VTFQCREPPAGRPSLFQRLLESPAT	VTFQCREPPAGRLSLFQRLLESPAT	6.0	8.0	-	-	4301_19:19656689-19656689 C>T_VTFQCREPPAGRLSLFQRLLESPAT
17:36623257-36623257 G>A	0.0	4301	MELANOMA	-	-	-	-	ARHGAP23	NM_001199417,p.G445R|uc002hqc.3,p.G239R|ENST00000431231,p.G445R|uc021twe.1,p.G351R|ENST00000443378,p.G351R|uc021twd.1,p.G445R|ENST00000437668,p.G445R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021twe.1	nonsynonymous SNV	exon6	c.G1051A	p.G351R	LHALSFRDSPFGGLPTFNLAQSPAS	LHALSFRDSPFGRLPTFNLAQSPAS	7.0	7.0	-	-	4301_17:36623257-36623257 G>A_LHALSFRDSPFGRLPTFNLAQSPAS
9:40773438-40773438 G>T	0.0	4301	MELANOMA	-	-	-	-	ZNF658	uc010mmn.1,p.H613N|ENST00000377626,p.H613N|ENST00000602553,p.H613N|uc004abs.2,p.H613N|NM_033160,p.H613N	protein_coding, nonsense_mediated_decay	uc010mmn.1	nonsynonymous SNV	exon5	c.C1837A	p.H613N	PYECSDCEKTFAHNSALRAHHRIHT	PYECSDCEKTFANNSALRAHHRIHT	6.0	10.0	unscreened	-	4301_9:40773438-40773438 G>T_PYECSDCEKTFANNSALRAHHRIHT
X:153594953-153594953 G>A	0.0	4301	MELANOMA	-	-	-	2	FLNA	ENST00000369850,p.P348S|ENST00000420627,p.P334S|ENST00000360319,p.P348S|uc010nuu.1,p.P348S|NM_001110556,p.P348S|NM_001456,p.P348S|ENST00000422373,p.P348S|ENST00000344736,p.P348S|uc004fkk.2,p.P348S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010nuu.1	nonsynonymous SNV	exon7	c.C1042T	p.P348S	NDKNRTFSVWYVPEVTGTHKVTVLF	NDKNRTFSVWYVSEVTGTHKVTVLF	10.0	3.0	-	-	4301_X:153594953-153594953 G>A_NDKNRTFSVWYVSEVTGTHKVTVLF
1:156553649-156553649 C>T	0.0	4301	MELANOMA	-	-	-	-	TTC24	ENST00000368236,p.R405C|NM_001105669,p.R405C|ENST00000368237,p.R405C|uc021pbf.1,p.R405C	protein_coding, processed_transcript	uc021pbf.1	nonsynonymous SNV	exon6	c.C1213T	p.R405C	RLVAKLADTVRTRLAQVGLVQTHTL	RLVAKLADTVRTCLAQVGLVQTHTL	7.0	5.0	-	-	4301_1:156553649-156553649 C>T_RLVAKLADTVRTCLAQVGLVQTHTL
10:32751623-32751623 C>T	1.0	4301	MELANOMA	-	-	-	-	CCDC7	ENST00000537047,p.L157F|ENST00000535327,p.L157F|NM_001026383,p.L157F|ENST00000545067,p.L157F|ENST00000362006,p.L157F|uc001iwj.3,p.L157F|ENST00000539197,p.L157F|ENST00000476558,p.L157F|NM_145023,p.L157F|uc001iwk.3,p.L157F|uc009xlx.1,p.L157F|ENST00000277657,p.L157F	protein_coding, processed_transcript, nonsense_mediated_decay	uc009xlx.1	nonsynonymous SNV	exon4	c.C469T	p.L157F	EALKEEQNILESLFKWFQWQVNQME	EALKEEQNILESFFKWFQWQVNQME	7.0	1.0	-	-	4301_10:32751623-32751623 C>T_EALKEEQNILESFFKWFQWQVNQME
7:142651422-142651422 C>T	0.0	4301	MELANOMA	-	-	-	-	KEL	NM_000420,p.G258E|ENST00000355265,p.G258E|uc003wcb.3,p.G258E	retained_intron, protein_coding, processed_transcript	uc003wcb.3	nonsynonymous SNV	exon8	c.G773A	p.G258E	IFREYLTYLNQLGTLLGGDPSKVQE	IFREYLTYLNQLETLLGGDPSKVQE	7.0	10.0	-	-	4301_7:142651422-142651422 C>T_IFREYLTYLNQLETLLGGDPSKVQE
18:70423380-70423380 G>A	0.0	4301	MELANOMA	-	-	-	-	NETO1	ENST00000299430,p.P290S|NM_138966,p.P291S|NM_001201465,p.P291S|uc002lkw.3,p.P291S|uc002lky.2,p.P291S|ENST00000327305,p.P291S|ENST00000583169,p.P291S	protein_coding, processed_transcript	uc002lky.2	nonsynonymous SNV	exon8	c.C871T	p.P291S	RFQMLFTSFQEPPCEGNTFFCHSNM	RFQMLFTSFQEPSCEGNTFFCHSNM	6.0	8.0	-	-	4301_18:70423380-70423380 G>A_RFQMLFTSFQEPSCEGNTFFCHSNM
1:198711017-198711017 G>A	0.0	4301	MELANOMA	-	-	-	1	PTPRC	uc001gur.2,p.G808E|NM_080921,p.G647E|NM_002838,p.G808E|ENST00000352140,p.G758E|ENST00000594404,p.G645E|ENST00000442510,p.G808E|uc001gut.2,p.G647E|ENST00000367376,p.G806E|ENST00000348564,p.G647E	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc001gut.2	nonsynonymous SNV	exon21	c.G1940A	p.G647E	KLNIVNKKEKATGREVTHIQFTSWP	KLNIVNKKEKATEREVTHIQFTSWP	10.0	9.0	-	-	4301_1:198711017-198711017 G>A_KLNIVNKKEKATEREVTHIQFTSWP
3:33135593-33135593 G>A	1.0	4301	MELANOMA	-	-	-	-	TMPPE	NM_001039770,p.A32V|ENST00000342462,p.A32V|uc003cfk.2,p.A32V|uc021wux.1,p.A32V	protein_coding	uc021wux.1	nonsynonymous SNV	exon1	c.C95T	p.A32V	VFVSMIASRSYLAESLELRAWRWLL	VFVSMIASRSYLVESLELRAWRWLL	5.0	7.0	-	-	4301_3:33135593-33135593 G>A_VFVSMIASRSYLVESLELRAWRWLL
12:11091682-11091682 G>A	0.0	4301	MELANOMA	-	-	-	-	TAS2R14	ENST00000537503,p.S42F|uc010shi.2,p.S42F|NM_023922,p.S42F	protein_coding, processed_transcript	uc010shi.2	nonsynonymous SNV	exon1	c.C125T	p.S42F	VNCIDWVKGRKISSVDRILTALAIS	VNCIDWVKGRKIFSVDRILTALAIS	6.0	9.0	-	-	4301_12:11091682-11091682 G>A_VNCIDWVKGRKIFSVDRILTALAIS
7:20685688-20685688 G>A	0.0	4301	MELANOMA	-	-	-	-	ABCB5	uc010kuh.3,p.G303E|NM_001163941,p.G303E|ENST00000404938,p.G303E	protein_coding, processed_transcript, nonsense_mediated_decay	uc010kuh.3	nonsynonymous SNV	exon9	c.G908A	p.G303E	LGAVYFFMNGTYGLAFWYGTSLILN	LGAVYFFMNGTYELAFWYGTSLILN	3.0	10.0	-	-	4301_7:20685688-20685688 G>A_LGAVYFFMNGTYELAFWYGTSLILN
1:101004617-101004617 T>A	1.0	4301	MELANOMA	-	-	-	-	GPR88	uc021oqq.1,p.I32N|ENST00000315033,p.I32N|NM_022049,p.I32N|uc001dth.3,p.I32N	protein_coding	uc021oqq.1	nonsynonymous SNV	exon1	c.T95A	p.I32N	LCEEEESWAGRRIPVSLLYSGLAIG	LCEEEESWAGRRNPVSLLYSGLAIG	4.0	3.0	-	-	4301_1:101004617-101004617 T>A_LCEEEESWAGRRNPVSLLYSGLAIG
11:121491927-121491927 C>T	0.0	4301	MELANOMA	-	-	-	-	SORL1	NM_003105,p.S2015F|ENST00000534286,p.S925F|uc001pxx.3,p.S2015F|ENST00000527934,p.S630F|uc010rzp.1,p.S861F|ENST00000525532,p.S959F|ENST00000260197,p.S2015F|ENST00000532694,p.S861F|uc010rzq.1,p.S630F	retained_intron, protein_coding, processed_transcript	uc010rzq.1	nonsynonymous SNV	exon15	c.C1889T	p.S630F	HIIVQLGNMSKDSSIKITTVSLSAP	HIIVQLGNMSKDFSIKITTVSLSAP	8.0	3.0	-	-	4301_11:121491927-121491927 C>T_HIIVQLGNMSKDFSIKITTVSLSAP
19:22363612-22363612 G>A	0.0	4301	MELANOMA	-	-	-	-	ZNF676	uc002nqs.1,p.H303Y|NM_001001411,p.H303Y|ENST00000397121,p.H303Y	protein_coding	uc002nqs.1	nonsynonymous SNV	exon3	c.C907T	p.H303Y	NSSSKLMEHKRIHTGEKPYKCEECG	NSSSKLMEHKRIYTGEKPYKCEECG	5.0	1.0	unscreened	-	4301_19:22363612-22363612 G>A_NSSSKLMEHKRIYTGEKPYKCEECG
8:113516066-113516066 C>T	0.0	4301	MELANOMA	-	-	-	2	CSMD3	ENST00000455883,p.R1575Q|ENST00000339701,p.R1019Q|NM_198123,p.R1679Q|NM_198124,p.R1639Q|uc011lhx.2,p.R1575Q|uc003ynu.3,p.R1679Q|ENST00000343508,p.R1639Q|NM_052900,p.R1575Q|ENST00000297405,p.R1679Q|uc003ynt.3,p.R1639Q|ENST00000352409,p.R1679Q|uc003yns.3,p.R951Q	retained_intron, protein_coding, processed_transcript	uc011lhx.2	nonsynonymous SNV	exon29	c.G4724A	p.R1575Q	IESSSNTMHLAFRSDGSVSYTGFHL	IESSSNTMHLAFQSDGSVSYTGFHL	1.0	7.0	-	-	4301_8:113516066-113516066 C>T_IESSSNTMHLAFQSDGSVSYTGFHL
18:50432624-50432624 G>A	0.0	4301	MELANOMA	-	-	-	2	DCC	ENST00000442544,p.G208E|ENST00000412726,p.G56E|uc010xdr.1,p.G56E|NM_005215,p.G208E|uc002lfe.2,p.G208E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xdr.1	nonsynonymous SNV	exon3	c.G167A	p.G56E	ALQISRLQPGDIGIYRCSARNPASS	ALQISRLQPGDIEIYRCSARNPASS	4.0	8.0	-	-	4301_18:50432624-50432624 G>A_ALQISRLQPGDIEIYRCSARNPASS
X:70609435-70609435 G>A	0.0	4301	MELANOMA	-	-	-	-	TAF1	uc004dzv.4,p.D74N|NM_001286074,p.D921N|uc004dzt.4,p.D921N|uc004dzu.4,p.D900N|ENST00000373790,p.D900N|ENST00000276072,p.D921N|NM_004606,p.D921N|ENST00000449580,p.D900N|ENST00000423759,p.D921N|NM_138923,p.D900N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004dzv.4	nonsynonymous SNV	exon3	c.G220A	p.D74N	YYSMIAAEQRLKDAGYGEKSFFAPE	YYSMIAAEQRLKNAGYGEKSFFAPE	8.0	1.0	-	-	4301_X:70609435-70609435 G>A_YYSMIAAEQRLKNAGYGEKSFFAPE
22:38203981-38203981 C>T	1.0	4301	MELANOMA	-	-	-	-	GCAT	ENST00000248924,p.P3S|ENST00000445195,p.P3S|ENST00000323205,p.P3S|NM_001171690,p.P3S|uc003aua.2,p.P3S|ENST00000426858,p.P3S|uc003atz.3,p.P3S|NM_014291,p.P3S	retained_intron, protein_coding, nonsense_mediated_decay	uc003aua.2	nonsynonymous SNV	exon1	c.C7T	p.P3S	MWPGNAWRAALFWVP	MWSGNAWRAALFWVP	7.0	8.0	-	-	4301_22:38203981-38203981 C>T_MWSGNAWRAALFWVP
6:32032891-32032891 G>A, 6:32032892-32032892 G>A	0.0	4301	MELANOMA	-	-	-	-	TNXB	uc003nzl.2,p.P2183L|NM_019105,p.P2183L|ENST00000375244,p.P2183L|ENST00000375247,p.P2183L	retained_intron, protein_coding	uc003nzl.2	nonsynonymous SNV	exon19	c.C6547T, c.C6548T	p.P2183L	RVGPVSAVGVTAPEEESPDAPLAKL	RVGPVSAVGVTALEEESPDAPLAKL	8.0	9.0	-	Dinucleotide variant, 6:32032892-32032892 G>A, residue 13 P>L PR	4301_6:32032891-32032891 G>A, 6:32032892-32032892 G>A_RVGPVSAVGVTALEEESPDAPLAKL
19:33200227-33200227 C>A	1.0	4301	MELANOMA	-	-	-	-	NUDT19	NM_001105570,p.A284E|ENST00000397061,p.A284E|uc010edf.3,p.A284E	protein_coding	uc010edf.3	nonsynonymous SNV	exon2	c.C851A	p.A284E	SLSDLHKFCLGRALEGLERWLPIIL	SLSDLHKFCLGRELEGLERWLPIIL	8.0	5.0	-	-	4301_19:33200227-33200227 C>A_SLSDLHKFCLGRELEGLERWLPIIL
6:97058452-97058452 T>A	0.0	4301	MELANOMA	-	-	-	-	FHL5	ENST00000450218,p.I170K|NM_020482,p.I170K|ENST00000326771,p.I170K|uc003pot.2,p.I170K|uc003pos.2,p.I170K|ENST00000541107,p.I170K|NM_001170807,p.I170K	protein_coding	uc003pot.2	nonsynonymous SNV	exon5	c.T509A	p.I170K	EFAHYCNFCKKVITSGGITFCDQLW	EFAHYCNFCKKVKTSGGITFCDQLW	5.0	6.0	-	-	4301_6:97058452-97058452 T>A_EFAHYCNFCKKVKTSGGITFCDQLW
20:50406698-50406698 C>T	0.0	4301	MELANOMA	-	-	-	1	SALL4	uc002xwh.4,p.R775Q|ENST00000217086,p.R775Q|NM_020436,p.R775Q	protein_coding, processed_transcript	uc002xwh.4	nonsynonymous SNV	exon2	c.G2324A	p.R775Q	SSSLMGDQEYQSRSPDILETTSFQA	SSSLMGDQEYQSQSPDILETTSFQA	5.0	6.0	-	-	4301_20:50406698-50406698 C>T_SSSLMGDQEYQSQSPDILETTSFQA
1:177250346-177250346 G>A	0.0	4301	MELANOMA	-	-	ID=COSM108692;OCCURENCE=1(skin)	-	BRINP2	uc001glf.3,p.M678I|ENST00000361539,p.M678I|uc001glg.3,p.M573I|NM_021165,p.M678I	protein_coding, processed_transcript	uc001glg.3	nonsynonymous SNV	exon5	c.G1719A	p.M573I	LEMTDPSKNLGYMKINTLQVFGYSL	LEMTDPSKNLGYIKINTLQVFGYSL	1.0	10.0	-	-	4301_1:177250346-177250346 G>A_LEMTDPSKNLGYIKINTLQVFGYSL
2:165947051-165947051 C>T	0.0	4301	MELANOMA	-	-	ID=COSM39151;OCCURENCE=1(central_nervous_system)	-	SCN3A	NM_001081676,p.R1822Q|NM_001081677,p.R1822Q|uc002ucy.3,p.R1822Q|uc010zcy.2,p.R354Q|ENST00000283254,p.R1871Q|uc002ucx.3,p.R1871Q|ENST00000540861,p.R354Q|ENST00000409101,p.R1822Q|uc002ucz.3,p.R1822Q|ENST00000360093,p.R1871Q|NM_006922,p.R1871Q	retained_intron, protein_coding, processed_transcript	uc010zcy.2	nonsynonymous SNV	exon3	c.G1061A	p.R354Q	RVLGESGEMDALRIQMEDRFMASNP	RVLGESGEMDALQIQMEDRFMASNP	6.0	9.0	-	-	4301_2:165947051-165947051 C>T_RVLGESGEMDALQIQMEDRFMASNP
X:123515092-123515092 G>A	0.0	4301	MELANOMA	-	-	-	-	TENM1	NM_001163278,p.S2498F|uc011muj.2,p.S2497F|ENST00000371130,p.S2491F|uc010nqy.3,p.S2498F|NM_014253,p.S2491F|uc004euj.3,p.S2491F|NM_001163279,p.S2497F|ENST00000422452,p.S2498F	protein_coding, processed_transcript	uc011muj.2	nonsynonymous SNV	exon32	c.C7490T	p.S2497F	QCELQKQLRNFISLDQLPMTPRYND	QCELQKQLRNFIFLDQLPMTPRYND	4.0	6.0	-	-	4301_X:123515092-123515092 G>A_QCELQKQLRNFIFLDQLPMTPRYND
19:36398655-36398655 G>A	0.0	4301	MELANOMA	-	-	-	-	TYROBP	uc002ocm.3,p.P24L|NM_003332,p.P24L|ENST00000589517,p.P24L|ENST00000585901,p.P24L|uc002ocn.3,p.P24L|ENST00000262629,p.P24L|NM_198125,p.P24L	retained_intron, protein_coding, nonsense_mediated_decay	uc002ocn.3	nonsynonymous SNV	exon2	c.C71T	p.P24L	LLPLLLAVSGLRPVQAQAQSDCSCS	LLPLLLAVSGLRLVQAQAQSDCSCS	10.0	2.0	-	-	4301_19:36398655-36398655 G>A_LLPLLLAVSGLRLVQAQAQSDCSCS
10:5541098-5541098 C>T	1.0	4301	MELANOMA	-	-	-	-	CALML5	uc001iic.2,p.E102K|NM_017422,p.E102K|ENST00000380332,p.E102K	protein_coding	uc001iic.2	nonsynonymous SNV	exon1	c.G304A	p.E102K	FDQDGDGHITVDELRRAMAGLGQPL	FDQDGDGHITVDKLRRAMAGLGQPL	4.0	7.0	-	-	4301_10:5541098-5541098 C>T_FDQDGDGHITVDKLRRAMAGLGQPL
18:58038632-58038632 G>C	1.0	4301	MELANOMA	-	-	-	-	MC4R	NM_005912,p.I317M|ENST00000299766,p.I317M|uc002lie.1,p.I317M	protein_coding	uc002lie.1	nonsynonymous SNV	exon1	c.C951G	p.I317M	RSQELRKTFKEIICCYPLGGLCDLS	RSQELRKTFKEIMCCYPLGGLCDLS	4.0	5.0	-	-	4301_18:58038632-58038632 G>C_RSQELRKTFKEIMCCYPLGGLCDLS
7:142460807-142460807 G>A	0.0	4301	MELANOMA	-	-	-	-	PRSS1	uc003wak.2,p.G227E|ENST00000486171,p.G241E|ENST00000311737,p.G227E|NM_002769,p.G227E|uc003wam.2,p.G167E	retained_intron, protein_coding	uc003wam.2	nonsynonymous SNV	exon3	c.G500A	p.G167E	SWGDGCAQKNKPGVYTKVYNYVKWI	SWGDGCAQKNKPEVYTKVYNYVKWI	4.0	10.0	-	-	4301_7:142460807-142460807 G>A_SWGDGCAQKNKPEVYTKVYNYVKWI
22:31489630-31489630 G>A	0.0	4301	MELANOMA	-	-	-	-	SMTN	uc003ajo.2,p.S66N|ENST00000404574,p.S66N	retained_intron, protein_coding, processed_transcript	uc003ajo.2	nonsynonymous SNV	exon1	c.G197A	p.S66N	AAEELRAERAALSRRLDALSRQVEV	AAEELRAERAALNRRLDALSRQVEV	8.0	4.0	-	-	4301_22:31489630-31489630 G>A_AAEELRAERAALNRRLDALSRQVEV
7:154863082-154863082 C>T	0.0	4301	MELANOMA	-	-	-	-	HTR5A	NM_024012,p.S158F|ENST00000287907,p.S158F|uc003wlu.2,p.S158F	protein_coding, processed_transcript	uc003wlu.2	nonsynonymous SNV	exon1	c.C473T	p.S158F	HMEYTLRTRKCVSNVMIALTWALSA	HMEYTLRTRKCVFNVMIALTWALSA	1.0	10.0	-	-	4301_7:154863082-154863082 C>T_HMEYTLRTRKCVFNVMIALTWALSA
1:248458301-248458301 C>T	0.0	4301	MELANOMA	-	-	ID=COSM1218618;OCCURENCE=2(large_intestine)	-	OR2T12	NM_001004692,p.E194K|uc010pzj.2,p.E194K|ENST00000317996,p.E194K	protein_coding	uc010pzj.2	nonsynonymous SNV	exon1	c.G580A	p.E194K	LVRLACADTSVFENAMYICCVLMLL	LVRLACADTSVFKNAMYICCVLMLL	1.0	10.0	-	-	4301_1:248458301-248458301 C>T_LVRLACADTSVFKNAMYICCVLMLL
14:70634634-70634634 G>A	0.0	4301	MELANOMA	-	-	-	-	SLC8A3	ENST00000357887,p.T169I|NM_183002,p.T169I|NM_182932,p.T169I|ENST00000356921,p.T169I|ENST00000381269,p.T169I|ENST00000528359,p.T169I|uc001xlw.3,p.T169I|NM_033262,p.T169I|uc001xlx.3,p.T169I|ENST00000534137,p.T169I|uc001xlz.3,p.T169I|NM_058240,p.T169I|uc001xly.3,p.T169I|ENST00000494208,p.T169I	protein_coding, processed_transcript, nonsense_mediated_decay	uc001xlz.3	nonsynonymous SNV	exon2	c.C506T	p.T169I	GHGFIAGDLGPSTIVGSAAFNMFII	GHGFIAGDLGPSIIVGSAAFNMFII	3.0	9.0	-	-	4301_14:70634634-70634634 G>A_GHGFIAGDLGPSIIVGSAAFNMFII
X:54836471-54836471 C>T	0.0	4301	MELANOMA	-	-	-	-	MAGED2	ENST00000375060,p.T83I|NM_177433,p.T121I|uc004dtl.1,p.T121I|ENST00000343474,p.T103I|ENST00000375062,p.T83I|uc004dtk.1,p.T121I|ENST00000347546,p.T65I|NM_201222,p.T121I|NM_014599,p.T121I|uc004dtm.1,p.T83I|uc004dto.1,p.T95I|ENST00000375068,p.T121I|ENST00000396224,p.T121I|uc004dtn.1,p.T121I|ENST00000375058,p.T121I|ENST00000375053,p.T121I|ENST00000218439,p.T121I	protein_coding, processed_transcript	uc004dto.1	nonsynonymous SNV	exon1	c.C284T	p.T95I	QNADPQAVTMPATETKKVSHVADTK	QNADPQAVTMPAIETKKVSHVADTK	10.0	2.0	-	-	4301_X:54836471-54836471 C>T_QNADPQAVTMPAIETKKVSHVADTK
1:114483132-114483132 T>C	1.0	4301	MELANOMA	-	-	-	-	HIPK1	ENST00000514621,p.Y43H|ENST00000369561,p.Y43H|NM_198268,p.Y43H|ENST00000426820,p.Y43H|uc001een.3,p.Y43H|ENST00000369555,p.Y43H|NM_152696,p.Y43H|ENST00000369558,p.Y43H|uc001eem.3,p.Y43H|ENST00000369554,p.Y43H|ENST00000503968,p.Y43H|ENST00000369559,p.Y43H|uc001eel.3,p.Y43H	protein_coding	uc001een.3	nonsynonymous SNV	exon2	c.T127C	p.Y43H	WDVSGQSSNDKYYTHSKTLPATQGQ	WDVSGQSSNDKYHTHSKTLPATQGQ	8.0	8.0	-	-	4301_1:114483132-114483132 T>C_WDVSGQSSNDKYHTHSKTLPATQGQ
7:151704956-151704956 A>G	0.0	4301	MELANOMA	-	-	-	-	GALNTL5	NM_145292,p.Y318C|uc003wkq.3,p.Y69C|uc010lqf.3,p.Y207C|uc003wkp.3,p.Y318C|ENST00000431418,p.Y318C|ENST00000392800,p.Y318C	protein_coding, processed_transcript, nonsense_mediated_decay	uc010lqf.3	nonsynonymous SNV	exon8	c.A620G	p.Y207C	AMSGGIFAIRRHYFNEIGQYDKDMD	AMSGGIFAIRRHCFNEIGQYDKDMD	1.0	10.0	-	-	4301_7:151704956-151704956 A>G_AMSGGIFAIRRHCFNEIGQYDKDMD
5:140503307-140503307 C>T	0.0	4301	MELANOMA	-	-	-	-	PCDHB4	uc003lip.1,p.P576L|NM_018938,p.P576L|ENST00000194152,p.P576L	protein_coding	uc003lip.1	nonsynonymous SNV	exon1	c.C1727T	p.P576L	LQNGSAPCTELVPRAAEPGYLVTKV	LQNGSAPCTELVLRAAEPGYLVTKV	4.0	7.0	-	-	4301_5:140503307-140503307 C>T_LQNGSAPCTELVLRAAEPGYLVTKV
3:146179626-146179626 G>A	0.0	4301	MELANOMA	-	-	-	-	PLSCR2	NM_001199978,p.S12F|ENST00000497985,p.S12F|uc021xfa.1,p.S12F	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xfa.1	nonsynonymous SNV	exon3	c.C35T	p.S12F	MRSWNSLFCLNSSRPPGHIVYPKH	MRSWNSLFCLNFSRPPGHIVYPKH	3.0	6.0	-	-	4301_3:146179626-146179626 G>A_MRSWNSLFCLNFSRPPGHIVYPKH
15:73659986-73659986 C>T	0.0	4301	MELANOMA	-	-	-	-	HCN4	NM_005477,p.G209D|ENST00000261917,p.G209D|uc002avp.3,p.G209D	protein_coding	uc002avp.3	nonsynonymous SNV	exon1	c.G626A	p.G209D	GDQILPEAEVRLGQAGFMQRQFGAM	GDQILPEAEVRLDQAGFMQRQFGAM	1.0	9.0	-	-	4301_15:73659986-73659986 C>T_GDQILPEAEVRLDQAGFMQRQFGAM
16:81916938-81916938 G>A	0.0	4301	MELANOMA	-	-	-	-	PLCG2	uc010chg.1,p.E253K|uc002fgt.3,p.E253K|NM_002661,p.E253K|ENST00000359376,p.E253K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010chg.1	nonsynonymous SNV	exon8	c.G757A	p.E253K	VYLHDFQRFLIHEQQEHWAQDLNKV	VYLHDFQRFLIHKQQEHWAQDLNKV	10.0	5.0	-	-	4301_16:81916938-81916938 G>A_VYLHDFQRFLIHKQQEHWAQDLNKV
19:43967808-43967808 C>A	1.0	4301	MELANOMA	-	-	ID=COSM3960171;OCCURENCE=1(lung)	-	LYPD3	ENST00000244333,p.A109S|NM_014400,p.A109S|uc002owm.3,p.A109S|uc002owl.1,p.A109S	retained_intron, protein_coding	uc002owm.3	nonsynonymous SNV	exon3	c.G325T	p.A109S	HGLLAFIQLQQCAQDRCNAKLNLTS	HGLLAFIQLQQCSQDRCNAKLNLTS	6.0	5.0	-	-	4301_19:43967808-43967808 C>A_HGLLAFIQLQQCSQDRCNAKLNLTS
17:54981847-54981847 C>T	1.0	4301	MELANOMA	-	-	-	-	TRIM25	uc002iut.3,p.M232I|ENST00000537230,p.M232I|uc010dcj.3,p.M24I|ENST00000316881,p.M232I|NM_005082,p.M232I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dcj.3	nonsynonymous SNV	exon4	c.G72A	p.M24I	LDDVRNRQQDVRMTANRKVEQLQQE	LDDVRNRQQDVRITANRKVEQLQQE	8.0	4.0	-	-	4301_17:54981847-54981847 C>T_LDDVRNRQQDVRITANRKVEQLQQE
11:117395552-117395552 G>A	1.0	4301	MELANOMA	-	-	-	-	DSCAML1	uc001pri.1,p.S166L|ENST00000321322,p.S362L|ENST00000527706,p.S92L|uc001prh.1,p.S362L|NM_020693,p.S362L	protein_coding	uc001pri.1	nonsynonymous SNV	exon5	c.C497T	p.S166L	GTYICEVTNTFGSAEATGILMVIDP	GTYICEVTNTFGLAEATGILMVIDP	4.0	5.0	-	-	4301_11:117395552-117395552 G>A_GTYICEVTNTFGLAEATGILMVIDP
1:210856714-210856714 G>A	0.0	4301	MELANOMA	-	-	ID=COSM1689791;OCCURENCE=1(skin)	-	KCNH1	uc001hib.2,p.S960F|uc001hic.2,p.S933F|ENST00000367007,p.S933F|NM_172362,p.S960F|NM_002238,p.S933F|ENST00000271751,p.S960F	protein_coding	uc001hic.2	nonsynonymous SNV	exon11	c.C2798T	p.S933F	EKQLSEILRILTSRRSSQSPQELFE	EKQLSEILRILTFRRSSQSPQELFE	2.0	5.0	-	-	4301_1:210856714-210856714 G>A_EKQLSEILRILTFRRSSQSPQELFE
11:72399554-72399554 A>G	1.0	4301	MELANOMA	-	-	-	-	ARAP1	ENST00000359373,p.I1328T|uc009yth.3,p.I1022T|ENST00000429686,p.I1022T|ENST00000426523,p.I1083T|ENST00000455638,p.I1328T|NM_001135190,p.I1022T|uc001osv.3,p.I1328T|ENST00000542596,p.I132T|uc010rre.2,p.I1083T	retained_intron, protein_coding, processed_transcript	uc010rre.2	nonsynonymous SNV	exon28	c.T3248C	p.I1083T	EVRSHRPEKEWPIKSLKVYLGVKKK	EVRSHRPEKEWPTKSLKVYLGVKKK	9.0	9.0	-	-	4301_11:72399554-72399554 A>G_EVRSHRPEKEWPTKSLKVYLGVKKK
11:72399554-72399554 A>G	1.0	4301	MELANOMA	-	-	-	-	ARAP1	ENST00000393609,p.I1339T|NM_001040118,p.I1339T|uc001oss.3,p.I1094T|uc001osr.3,p.I1099T|uc001osu.3,p.I1339T|ENST00000334211,p.I1094T|NM_015242,p.I1094T|ENST00000393605,p.I1099T	retained_intron, protein_coding, processed_transcript	uc001osu.3	nonsynonymous SNV	exon31	c.T4016C	p.I1339T	PETSHRPEKEWPIKSLKVYLGVKKK	PETSHRPEKEWPTKSLKVYLGVKKK	9.0	9.0	-	-	4301_11:72399554-72399554 A>G_PETSHRPEKEWPTKSLKVYLGVKKK
7:100644211-100644211 C>T	0.0	4301	MELANOMA	-	rs56147919	-	-	MUC12	ENST00000536621,p.T3456M|ENST00000379442,p.T3599M|uc003uxo.3,p.T3456M|NM_001164462,p.T3456M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.C10367T	p.T3456M	SMETTALPGSTTTPGLSEKSTTFHS	SMETTALPGSTTMPGLSEKSTTFHS	6.0	1.0	unscreened	-	4301_7:100644211-100644211 C>T_SMETTALPGSTTMPGLSEKSTTFHS
8:125988866-125988866 C>T	1.0	4301	MELANOMA	-	-	-	-	ZNF572	NM_152412,p.A119V|ENST00000319286,p.A119V|uc003yrr.3,p.A119V	protein_coding	uc003yrr.3	nonsynonymous SNV	exon3	c.C356T	p.A119V	NHQEWDSGEHTNACVQQNSSFVDRP	NHQEWDSGEHTNVCVQQNSSFVDRP	6.0	6.0	-	-	4301_8:125988866-125988866 C>T_NHQEWDSGEHTNVCVQQNSSFVDRP
11:7982819-7982819 C>T	0.0	4301	MELANOMA	-	-	-	-	NLRP10	uc001mfv.1,p.E114K|ENST00000328600,p.E114K|NM_176821,p.E114K	protein_coding	uc001mfv.1	nonsynonymous SNV	exon2	c.G340A	p.E114K	YREHVRCLEEWQEAGVNGRYNQVLL	YREHVRCLEEWQKAGVNGRYNQVLL	1.0	9.0	-	-	4301_11:7982819-7982819 C>T_YREHVRCLEEWQKAGVNGRYNQVLL
1:171076870-171076870 G>A	0.0	4301	MELANOMA	-	-	-	-	FMO3	ENST00000392085,p.D126N|uc001ghh.3,p.D126N|NM_006894,p.D126N|ENST00000542847,p.D106N|uc010pmc.2,p.D63N|ENST00000538429,p.D63N|NM_001002294,p.D126N|ENST00000367755,p.D126N|uc010pmb.2,p.D106N|uc001ghi.3,p.D126N	protein_coding, processed_transcript	uc010pmc.2	nonsynonymous SNV	exon3	c.G187A	p.D63N	NKHPDFATTGQWDVTTERDGKKESA	NKHPDFATTGQWNVTTERDGKKESA	6.0	10.0	-	-	4301_1:171076870-171076870 G>A_NKHPDFATTGQWNVTTERDGKKESA
8:24771437-24771437 C>T	0.0	4301	MELANOMA	-	-	-	-	NEFM	ENST00000221166,p.S44L|uc011lac.1,p.S44L|uc003xed.4,p.S44L|ENST00000518131,p.S44L|NM_005382,p.S44L|ENST00000437366,p.S44L	protein_coding, processed_transcript	uc011lac.1	nonsynonymous SNV	exon1	c.C131T	p.S44L	SSGFRSQSWSRGSPSTVSSSYKRSM	SSGFRSQSWSRGLPSTVSSSYKRSM	3.0	4.0	-	-	4301_8:24771437-24771437 C>T_SSGFRSQSWSRGLPSTVSSSYKRSM
17:78071170-78071170 G>A	0.0	4301	MELANOMA	-	-	-	-	CCDC40	uc010dht.3,p.D1050N|uc002jxn.4,p.D446N|NM_017950,p.D1050N|ENST00000397545,p.D1050N|uc002jxm.4,p.D833N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dht.3	nonsynonymous SNV	exon19	c.G3148A	p.D1050N	SVIQADFDTLEADLTRLGALKRQNL	SVIQADFDTLEANLTRLGALKRQNL	6.0	2.0	-	-	4301_17:78071170-78071170 G>A_SVIQADFDTLEANLTRLGALKRQNL
X:3241319-3241319 G>A	0.0	4301	MELANOMA	-	-	-	-	MXRA5	ENST00000217939,p.P803S|NM_015419,p.P803S|uc004crg.4,p.P803S	protein_coding	uc004crg.4	nonsynonymous SNV	exon5	c.C2407T	p.P803S	RGKNLPKGTEVPPLIKTTSPPSLSL	RGKNLPKGTEVPSLIKTTSPPSLSL	7.0	7.0	-	-	4301_X:3241319-3241319 G>A_RGKNLPKGTEVPSLIKTTSPPSLSL
X:123554578-123554578 T>A	0.0	4301	MELANOMA	-	-	-	-	TENM1	uc010nqy.3,p.N1522I|ENST00000422452,p.N1522I|NM_014253,p.N1515I|uc004euj.3,p.N1515I|ENST00000371130,p.N1515I|NM_001163279,p.N1521I|NM_001163278,p.N1522I|uc011muj.2,p.N1521I	protein_coding, processed_transcript	uc011muj.2	nonsynonymous SNV	exon25	c.A4562T	p.N1521I	SPDGTLYVADLGNVRIRTISRNQAH	SPDGTLYVADLGIVRIRTISRNQAH	4.0	9.0	-	-	4301_X:123554578-123554578 T>A_SPDGTLYVADLGIVRIRTISRNQAH
11:5510223-5510223 C>T	0.0	4301	MELANOMA	-	-	-	-	OR52D1	NM_001005163,p.S96F|ENST00000322641,p.S96F|uc010qzg.2,p.S96F	protein_coding	uc010qzg.2	nonsynonymous SNV	exon1	c.C287T	p.S96F	MLAILWLHAGEISFGGCLAQMFCVH	MLAILWLHAGEIFFGGCLAQMFCVH	1.0	8.0	-	-	4301_11:5510223-5510223 C>T_MLAILWLHAGEIFFGGCLAQMFCVH
5:90008213-90008213 C>T	0.0	4301	MELANOMA	-	-	-	-	GPR98	NM_032119,p.S3051F|uc003kju.3,p.S3051F|uc003kjv.3,p.S651F|ENST00000405460,p.S3051F	retained_intron, protein_coding, processed_transcript	uc003kjv.3	nonsynonymous SNV	exon10	c.C1952T	p.S651F	GDEKFQLILTNPSPGLELGKNTIAL	GDEKFQLILTNPFPGLELGKNTIAL	2.0	2.0	-	-	4301_5:90008213-90008213 C>T_GDEKFQLILTNPFPGLELGKNTIAL
12:124421708-124421708 G>A	1.0	4301	MELANOMA	-	-	-	-	CCDC92	ENST00000545891,p.A281V|NM_025140,p.A298V|uc001ufw.1,p.A298V|uc001ufv.1,p.A281V|uc001ufx.1,p.A298V|ENST00000238156,p.A298V|ENST00000545135,p.A281V	protein_coding, processed_transcript	uc001ufx.1	nonsynonymous SNV	exon5	c.C893T	p.A298V	KAHVGVAHRIHHATPPQAQPEVKTL	KAHVGVAHRIHHVTPPQAQPEVKTL	8.0	7.0	-	-	4301_12:124421708-124421708 G>A_KAHVGVAHRIHHVTPPQAQPEVKTL
1:47278173-47278173 G>A	0.0	4301	MELANOMA	-	-	-	-	CYP4B1	ENST00000464439,p.G125S|ENST00000271153,p.G125S|uc001cqn.4,p.G125S|ENST00000371923,p.G125S|NM_001099772,p.G125S|uc001cqm.4,p.G125S|NM_000779,p.G125S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001cqn.4	nonsynonymous SNV	exon4	c.G373A	p.G125S	DVYDFFLQWIGRGLLVLEGPKWLQH	DVYDFFLQWIGRSLLVLEGPKWLQH	5.0	3.0	-	-	4301_1:47278173-47278173 G>A_DVYDFFLQWIGRSLLVLEGPKWLQH
11:17793657-17793657 G>A	0.0	4301	MELANOMA	-	-	-	-	KCNC1	uc009yhc.1,p.R339Q|NM_004976,p.R339Q|NM_001112741,p.R339Q|ENST00000379472,p.R339Q|uc001mnk.4,p.R339Q|ENST00000265969,p.R339Q	retained_intron, protein_coding, processed_transcript	uc009yhc.1	nonsynonymous SNV	exon2	c.G1016A	p.R339Q	HFVGLRVLGHTLRASTNEFLLLIIF	HFVGLRVLGHTLQASTNEFLLLIIF	1.0	7.0	-	-	4301_11:17793657-17793657 G>A_HFVGLRVLGHTLQASTNEFLLLIIF
6:28254865-28254865 C>T	1.0	4301	MELANOMA	-	-	-	-	PGBD1	NM_001184743,p.P188S|NM_032507,p.P188S|uc003nky.3,p.P188S|uc003nkz.3,p.P188S|ENST00000259883,p.P188S|ENST00000405948,p.P188S	protein_coding	uc003nkz.3	nonsynonymous SNV	exon4	c.C562T	p.P188S	PQGNPQEVSGPVPHGSAHLQEKNPR	PQGNPQEVSGPVSHGSAHLQEKNPR	6.0	3.0	-	-	4301_6:28254865-28254865 C>T_PQGNPQEVSGPVSHGSAHLQEKNPR
X:50350613-50350613 C>T	0.0	4301	MELANOMA	-	-	-	-	SHROOM4	ENST00000376020,p.E1177K|ENST00000460112,p.E1061K|ENST00000289292,p.E1177K|NM_020717,p.E1177K|uc004dpe.2,p.E1177K	protein_coding, processed_transcript	uc004dpe.2	nonsynonymous SNV	exon6	c.G3529A	p.E1177K	SSETSGSCALNPEEVLEQPQPLSFG	SSETSGSCALNPKEVLEQPQPLSFG	6.0	9.0	-	-	4301_X:50350613-50350613 C>T_SSETSGSCALNPKEVLEQPQPLSFG
9:8528768-8528768 G>A	0.0	4301	MELANOMA	-	-	ID=COSM1686078,COSM1686081,COSM1686079,COSM1686082,COSM1686080;OCCURENCE=2(skin)	-	PTPRD	NM_130392,p.P122S|uc003zkt.1,p.P122S|ENST00000463477,p.P122S|uc003zkq.3,p.P122S|uc003zkp.3,p.P122S|uc003zks.3,p.P122S|uc022bdj.1,p.P122S|ENST00000540109,p.P122S|ENST00000360074,p.P122S|ENST00000358503,p.P122S|ENST00000397617,p.P122S|ENST00000397606,p.P122S|NM_001040712,p.P122S|ENST00000355233,p.P122S|ENST00000537002,p.P122S|NM_001171025,p.P122S|ENST00000486161,p.P122S|NM_002839,p.P122S|ENST00000397611,p.P122S|NM_130391,p.P122S|uc003zkk.3,p.P122S|ENST00000381196,p.P122S|NM_130393,p.P122S|ENST00000356435,p.P122S|uc003zkr.3,p.P122S	retained_intron, protein_coding, processed_transcript	uc022bdj.1	nonsynonymous SNV	exon4	c.C364T	p.P122S	STRLTVLREDQIPRGFPTIDMGPQL	STRLTVLREDQISRGFPTIDMGPQL	4.0	8.0	-	-	4301_9:8528768-8528768 G>A_STRLTVLREDQISRGFPTIDMGPQL
2:169716024-169716024 C>-	0.0	4301	MELANOMA	-	-	-	-	NOSTRIN	ENST00000317647,p.N352fs|ENST00000445023,p.N274fs|uc010fpu.3,p.N324fs|ENST00000458381,p.N409fs|ENST00000421711,p.N324fs|uc002ueg.3,p.N352fs|uc002ueh.3,p.N274fs|NM_001171631,p.N409fs|ENST00000397206,p.N274fs|NM_052946,p.N274fs|NM_001171632,p.N324fs|ENST00000397209,p.N324fs|ENST00000444448,p.N409fs|NM_001039724,p.N352fs|uc002uef.3,p.N409fs|uc002uek.3,p.N36fs	retained_intron, protein_coding, nonsense_mediated_decay	uc010fpu.3	frameshift deletion	exon12	c.972delC	p.N324fs	KSQKDTAALMDENNLKLDLLEANSY	KSQKDTAALMDEKI	8.0	1.0	-	-	4301_2:169716024-169716024 C>-_KSQKDTAALMDEKI
1:154033515-154033515 G>A	0.0	4301	MELANOMA	-	-	-	-	NUP210L	NM_207308,p.S884F|ENST00000271854,p.S884F|NM_001159484,p.S884F|uc001fdw.3,p.S884F|uc010peh.2,p.S884F|ENST00000368559,p.S884F	protein_coding	uc010peh.2	nonsynonymous SNV	exon19	c.C2651T	p.S884F	VGYSEKKSPKEISNLPRSVDVELLL	VGYSEKKSPKEIFNLPRSVDVELLL	2.0	10.0	-	-	4301_1:154033515-154033515 G>A_VGYSEKKSPKEIFNLPRSVDVELLL
4:57215797-57215797 G>C	1.0	4301	MELANOMA	-	-	-	-	AASDH	ENST00000451613,p.P707R|uc010ihb.3,p.P222R|uc011cab.2,p.P222R|NM_181806,p.P707R|ENST00000205214,p.P707R|uc003hbo.3,p.P607R|NM_001286668,p.P607R|NM_001286672,p.P707R|uc010ihc.3,p.P707R|uc003hbp.3,p.P707R|NM_001286671,p.P707R|uc003hbn.3,p.P707R|ENST00000502617,p.P707R|ENST00000434343,p.P222R|ENST00000513376,p.P607R|NM_001286670,p.P222R|NM_001286669,p.P554R|ENST00000602986,p.P554R|uc011caa.2,p.P554R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cab.2	nonsynonymous SNV	exon8	c.C665G	p.P222R	FLTKLGHCSSACPSDSVSQTNIQNL	FLTKLGHCSSACRSDSVSQTNIQNL	8.0	1.0	-	-	4301_4:57215797-57215797 G>C_FLTKLGHCSSACRSDSVSQTNIQNL
7:82582687-82582687 C>T	0.0	4301	MELANOMA	-	-	-	-	PCLO	NM_033026,p.D2528N|uc003uhx.2,p.D2528N|uc003uhv.2,p.D2528N|ENST00000423517,p.D2528N|ENST00000333891,p.D2528N|NM_014510,p.D2528N	protein_coding, processed_transcript, nonsense_mediated_decay	uc003uhx.2	nonsynonymous SNV	exon5	c.G7582A	p.D2528N	IPQLPTTTQKPTDIHPKPTGLSLTS	IPQLPTTTQKPTNIHPKPTGLSLTS	4.0	10.0	-	-	4301_7:82582687-82582687 C>T_IPQLPTTTQKPTNIHPKPTGLSLTS
13:99092429-99092429 C>G	1.0	4301	MELANOMA	-	-	-	-	FARP1	ENST00000319562,p.L857V|ENST00000595437,p.L888V|NM_005766,p.L857V|uc001vnj.3,p.L857V|uc001vnh.3,p.L888V|ENST00000376586,p.L888V|NM_001286839,p.L888V	retained_intron, protein_coding, processed_transcript	uc001vnj.3	nonsynonymous SNV	exon23	c.C2569G	p.L857V	EKWVEDIQMAIDLAEKSSSPAPEFL	EKWVEDIQMAIDVAEKSSSPAPEFL	9.0	5.0	-	-	4301_13:99092429-99092429 C>G_EKWVEDIQMAIDVAEKSSSPAPEFL
12:46244034-46244034 C>T	1.0	4301	MELANOMA	-	-	ID=COSM1167994;OCCURENCE=1(skin)	1	ARID2	ENST00000422737,p.P561S|uc001ror.3,p.P710S|uc001rou.1,p.P44S|ENST00000444670,p.P320S|uc009zkh.1,p.P337S|NM_152641,p.P710S|uc009zkg.1,p.P166S|uc001ros.1,p.P710S|ENST00000334344,p.P710S	retained_intron, protein_coding, processed_transcript	uc009zkh.1	nonsynonymous SNV	exon7	c.C1009T	p.P337S	APVTVIQSKAPIPCEVVKATVIQNS	APVTVIQSKAPISCEVVKATVIQNS	8.0	4.0	-	-	4301_12:46244034-46244034 C>T_APVTVIQSKAPISCEVVKATVIQNS
10:37433929-37433929 G>T	0.0	4301	MELANOMA	-	rs202149101	-	-	ANKRD30A	NM_052997,p.R411M|ENST00000602533,p.R411M|uc001iza.1,p.R411M|ENST00000374660,p.R411M|ENST00000361713,p.R411M|uc021ppc.1,p.R411M	protein_coding, processed_transcript	uc021ppc.1	nonsynonymous SNV	exon8	c.G1232T	p.R411M	KESSTKASANDQRFPSESKQEEDEE	KESSTKASANDQMFPSESKQEEDEE	1.0	10.0	-	-	4301_10:37433929-37433929 G>T_KESSTKASANDQMFPSESKQEEDEE
2:86270117-86270117 G>A	1.0	4301	MELANOMA	-	-	ID=COSM1326933;OCCURENCE=1(ovary)	-	POLR1A	NM_015425,p.R1113C|uc002sqs.3,p.R1113C|ENST00000409681,p.R1113C|uc002sqt.1,p.R136C|ENST00000263857,p.R1113C|uc010ytb.2,p.R479C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ytb.2	nonsynonymous SNV	exon10	c.C1435T	p.R479C	KALKLESENRNGRSPGTQEMLRMWY	KALKLESENRNGCSPGTQEMLRMWY	7.0	9.0	-	-	4301_2:86270117-86270117 G>A_KALKLESENRNGCSPGTQEMLRMWY
1:32122011-32122011 G>A	1.0	4301	MELANOMA	-	-	-	-	COL16A1	uc001btk.1,p.P1364L|NM_001856,p.P1364L|ENST00000373672,p.P1364L|uc001btj.1,p.P1162L|ENST00000271069,p.P1364L	retained_intron, protein_coding, processed_transcript	uc001btk.1	nonsynonymous SNV	exon66	c.C4091T	p.P1364L	EGPPGKQGFYGPPGPKGDPGAAGQK	EGPPGKQGFYGPLGPKGDPGAAGQK	9.0	5.0	-	-	4301_1:32122011-32122011 G>A_EGPPGKQGFYGPLGPKGDPGAAGQK
4:74280829-74280829 C>T	0.0	4301	MELANOMA	-	-	-	-	ALB	uc011cbe.2,p.T58I|NM_000477,p.T379I|ENST00000509063,p.T379I|ENST00000503124,p.T229I|ENST00000295897,p.T379I|uc003hgw.4,p.T187I|uc011cbf.2,p.T269I|uc003hgs.4,p.T379I|ENST00000401494,p.T264I|ENST00000415165,p.T187I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cbf.2	nonsynonymous SNV	exon8	c.C806T	p.T269I	VVLLLRLAKTYETTLEKCCAAADPH	VVLLLRLAKTYEITLEKCCAAADPH	3.0	2.0	-	-	4301_4:74280829-74280829 C>T_VVLLLRLAKTYEITLEKCCAAADPH
7:92098917-92098917 T>C	0.0	4301	MELANOMA	-	-	-	-	GATAD1,PEX1	ENST00000493463,p.Q260R|ENST00000603053,p.Q260R|uc022ahe.1,p.Q260R	protein_coding	uc022ahe.1	nonsynonymous SNV	exon1	c.A779G	p.Q260R	NSQCIRWVTPPTQIVCLPSGIFFVC	NSQCIRWVTPPTRIVCLPSGIFFVC	2.0	5.0	unscreened	Dinucleotide variant, 7:92098918-92098918 G>A, residue 13 Q>X PR	4301_7:92098917-92098917 T>C_NSQCIRWVTPPTRIVCLPSGIFFVC
8:77767640-77767640 G>A	0.0	4301	MELANOMA	-	-	-	-	ZFHX4	ENST00000518282,p.G2802E|uc003yaw.1,p.G2783E|ENST00000521891,p.G2828E|ENST00000455469,p.G2783E|uc003yau.2,p.G2828E|NM_024721,p.G2828E|ENST00000050961,p.G2783E	retained_intron, protein_coding, nonsense_mediated_decay	uc003yaw.1	nonsynonymous SNV	exon9	c.G8348A	p.G2783E	GDEGNTEMESTTGSSGDVKPALSPK	GDEGNTEMESTTESSGDVKPALSPK	5.0	9.0	-	-	4301_8:77767640-77767640 G>A_GDEGNTEMESTTESSGDVKPALSPK
1:179631299-179631299 G>A	0.0	4301	MELANOMA	-	-	-	-	TDRD5	ENST00000444136,p.D795N|NM_001199085,p.D795N|uc001gnf.2,p.D741N|NM_001199089,p.D795N|ENST00000417329,p.D251N|uc001gnh.2,p.D296N|uc010pnp.2,p.D795N|uc021pfn.1,p.D795N|NM_001199091,p.D741N|ENST00000294848,p.D741N|NM_173533,p.D741N|uc021pfm.1,p.D741N|NM_001199092,p.D296N|ENST00000367614,p.D741N	protein_coding	uc021pfn.1	nonsynonymous SNV	exon15	c.G2383A	p.D795N	CLESVTIGDDIWDENWLPLQAKMGK	CLESVTIGDDIWNENWLPLQAKMGK	2.0	9.0	-	-	4301_1:179631299-179631299 G>A_CLESVTIGDDIWNENWLPLQAKMGK
12:72680484-72680484 C>T	0.0	4301	MELANOMA	-	-	ID=COSM1705937;OCCURENCE=1(skin)	-	TRHDE	NM_013381,p.S268L|ENST00000261180,p.S268L|uc001sxa.3,p.S268L	retained_intron, protein_coding, processed_transcript	uc001sxa.3	nonsynonymous SNV	exon2	c.C803T	p.S268L	HGERRFLGVTQFSPTHARKAFPCFD	HGERRFLGVTQFLPTHARKAFPCFD	4.0	2.0	-	-	4301_12:72680484-72680484 C>T_HGERRFLGVTQFLPTHARKAFPCFD
7:117067469-117067469 C>T	0.0	4301	MELANOMA	-	-	ID=COSM598560;OCCURENCE=1(lung)	-	ASZ1	ENST00000450714,p.E16K|uc003vjb.2,p.E16K|ENST00000284629,p.E16K|NM_130768,p.E16K|uc011kno.1,p.E16K|NM_001301821,p.E16K	retained_intron, protein_coding, nonsense_mediated_decay	uc011kno.1	nonsynonymous SNV	exon1	c.G46A	p.E16K	SALRGLPVAGGGESSESEDDGWEIG	SALRGLPVAGGGKSSESEDDGWEIG	1.0	10.0	-	-	4301_7:117067469-117067469 C>T_SALRGLPVAGGGKSSESEDDGWEIG
1:92428435-92428435 G>A	0.0	4301	MELANOMA	-	-	-	-	BRDT	uc001dok.4,p.D42N|uc001dol.4,p.D42N|NM_001242807,p.D42N|ENST00000426141,p.D42N|ENST00000450792,p.D42N|uc010otb.2,p.D42N|NM_001242808,p.D42N|NM_001242805,p.D42N|ENST00000423434,p.D42N|ENST00000548992,p.D42N|uc010osz.2,p.D42N|ENST00000440509,p.D42N|ENST00000394530,p.D42N|NM_001242806,p.D42N|ENST00000399546,p.D42N|ENST00000362005,p.D42N|ENST00000402388,p.D42N|uc010ota.2,p.D42N|ENST00000427104,p.D42N|ENST00000448194,p.D42N|NM_207189,p.D42N|uc001dom.4,p.D42N|NM_001726,p.D42N	protein_coding, processed_transcript	uc010otb.2	nonsynonymous SNV	exon2	c.G124A	p.D42N	NQLQYLQKVVLKDLWKHSFSWPFQR	NQLQYLQKVVLKNLWKHSFSWPFQR	2.0	8.0	-	-	4301_1:92428435-92428435 G>A_NQLQYLQKVVLKNLWKHSFSWPFQR
X:153881773-153881773 T>C	0.0	4301	MELANOMA	-	rs17855367	-	-	CTAG2	ENST00000247306,p.Q6R|ENST00000369585,p.Q6R|uc004fmi.2,p.Q6R|uc004fmh.2,p.Q6R	protein_coding	uc004fmi.2	nonsynonymous SNV	exon1	c.A17G	p.Q6R	MQAEGQGTGGSTGDADGP	MQAEGRGTGGSTGDADGP	1.0	10.0	-	-	4301_X:153881773-153881773 T>C_MQAEGRGTGGSTGDADGP
2:215279114-215279114 G>A	0.0	4301	MELANOMA	-	-	-	-	VWC2L	NM_001080500,p.R66Q|ENST00000427124,p.R66Q|ENST00000312504,p.R66Q|uc002vet.2,p.R66Q|uc010zjl.1,p.R66Q	retained_intron, protein_coding	uc010zjl.1	nonsynonymous SNV	exon2	c.G197A	p.R66Q	VDDSGFVYKLGERFFPGHSNCPCVC	VDDSGFVYKLGEQFFPGHSNCPCVC	1.0	9.0	-	-	4301_2:215279114-215279114 G>A_VDDSGFVYKLGEQFFPGHSNCPCVC
3:192516413-192516413 G>A	0.0	4301	MELANOMA	-	-	-	2	MB21D2	NM_178496,p.T413I|ENST00000392452,p.T413I|uc011bsp.2,p.T413I	protein_coding	uc011bsp.2	nonsynonymous SNV	exon2	c.C1238T	p.T413I	SSVRSDPAEHLRTAIEHVKAANRLT	SSVRSDPAEHLRIAIEHVKAANRLT	6.0	3.0	-	-	4301_3:192516413-192516413 G>A_SSVRSDPAEHLRIAIEHVKAANRLT
11:26656570-26656570 C>T	0.0	4301	MELANOMA	-	-	-	-	ANO3	ENST00000537978,p.H650Y|uc010rds.2,p.H505Y|ENST00000525139,p.H650Y|uc010rdt.2,p.H520Y|ENST00000531568,p.H520Y|NM_031418,p.H666Y|uc010rdr.2,p.H650Y|uc001mqt.4,p.H666Y|ENST00000256737,p.H666Y	protein_coding, processed_transcript	uc010rdt.2	nonsynonymous SNV	exon17	c.C1558T	p.H520Y	FYIAFFLGRFVGHPGKYNKLFDRWR	FYIAFFLGRFVGYPGKYNKLFDRWR	2.0	6.0	-	-	4301_11:26656570-26656570 C>T_FYIAFFLGRFVGYPGKYNKLFDRWR
15:76630736-76630736 C>T	0.0	4301	MELANOMA	-	-	-	-	ISL2	NM_145805,p.S131L|ENST00000290759,p.S131L|uc002bbw.1,p.S131L	protein_coding, nonsense_mediated_decay	uc002bbw.1	nonsynonymous SNV	exon3	c.C392T	p.S131L	VCSRQLLPGDEFSLREHELLCRADH	VCSRQLLPGDEFLLREHELLCRADH	5.0	7.0	-	-	4301_15:76630736-76630736 C>T_VCSRQLLPGDEFLLREHELLCRADH
1:47278173-47278173 G>A	0.0	4301	MELANOMA	-	-	-	-	CYP4B1	ENST00000371919,p.G110S|uc009vym.3,p.G110S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009vym.3	nonsynonymous SNV	exon3	c.G328A	p.G110S	DYAKAVYSRGGRGLLVLEGPKWLQH	DYAKAVYSRGGRSLLVLEGPKWLQH	5.0	3.0	-	-	4301_1:47278173-47278173 G>A_DYAKAVYSRGGRSLLVLEGPKWLQH
22:29130460-29130460 C>T	1.0	4301	MELANOMA	-	-	-	1	CHEK2	ENST00000382578,p.E84K|ENST00000433728,p.E84K|ENST00000382566,p.E84K|ENST00000402731,p.E84K|uc003adv.1,p.E84K|ENST00000433028,p.E84K|ENST00000405598,p.E84K|ENST00000404276,p.E84K|uc010gvh.1,p.E84K|NM_145862,p.E84K|NM_007194,p.E84K|ENST00000382565,p.E84K|uc003adu.1,p.E84K|ENST00000416671,p.E84K|uc003adt.1,p.E84K|ENST00000439200,p.E84K|NM_001005735,p.E84K|ENST00000398017,p.E94K|uc010gvi.1,p.E84K|ENST00000447421,p.E84K|ENST00000328354,p.E84K|ENST00000382580,p.E84K|ENST00000417588,p.E84K|ENST00000448511,p.E84K|ENST00000403642,p.E84K|ENST00000348295,p.E84K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010gvi.1	nonsynonymous SNV	exon1	c.G250A	p.E84K	YSIPEDQEPEDQEPEEPTPAPWARL	YSIPEDQEPEDQKPEEPTPAPWARL	8.0	2.0	-	-	4301_22:29130460-29130460 C>T_YSIPEDQEPEDQKPEEPTPAPWARL
2:141250234-141250234 A>C	0.0	4301	MELANOMA	-	-	-	1	LRP1B	uc002tvj.1,p.D3021E|ENST00000389484,p.D3021E|NM_018557,p.D3021E	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon57	c.T9063G	p.D3021E	SLSDEEPFLILADHHEIRKISTDGS	SLSDEEPFLILAEHHEIRKISTDGS	1.0	7.0	-	-	4301_2:141250234-141250234 A>C_SLSDEEPFLILAEHHEIRKISTDGS
12:13716111-13716111 G>A	0.0	4301	MELANOMA	-	-	-	-	GRIN2B	ENST00000279593,p.S1354F|uc001rbt.2,p.S1354F|NM_000834,p.S1354F	protein_coding	uc001rbt.2	nonsynonymous SNV	exon13	c.C4061T	p.S1354F	MSAGESTFANNKSSVPTAGHHHHNN	MSAGESTFANNKFSVPTAGHHHHNN	3.0	6.0	-	-	4301_12:13716111-13716111 G>A_MSAGESTFANNKFSVPTAGHHHHNN
2:113832396-113832396 A>T	0.0	4301	MELANOMA	-	-	-	-	IL1F10	uc002tiw.3,p.E64V|ENST00000337569,p.E72V|ENST00000341010,p.E72V|uc002tiu.3,p.E72V|ENST00000393197,p.E72V|NM_032556,p.E72V|uc002tiv.3,p.E72V|NM_173161,p.E72V	retained_intron, protein_coding	uc002tiw.3	nonsynonymous SNV	exon1	c.A191T	p.E64V	GIQGGSRCLACVETEEGPSLQLEDV	GIQGGSRCLACVVTEEGPSLQLEDV	1.0	9.0	-	-	4301_2:113832396-113832396 A>T_GIQGGSRCLACVVTEEGPSLQLEDV
12:57962767-57962767 G>A	0.0	4301	MELANOMA	-	-	-	-	KIF5A	uc001sor.1,p.G246R|ENST00000455537,p.G246R|uc010srr.1,p.G157R|ENST00000286452,p.G157R|NM_004984,p.G246R	retained_intron, protein_coding	uc010srr.1	nonsynonymous SNV	exon6	c.G469A	p.G157R	AGSEKVSKTGAEGAVLDEAKNINKS	AGSEKVSKTGAERAVLDEAKNINKS	3.0	7.0	-	-	4301_12:57962767-57962767 G>A_AGSEKVSKTGAERAVLDEAKNINKS
2:189870953-189870953 C>T	0.0	4301	MELANOMA	-	-	-	2	COL3A1	ENST00000304636,p.L1021F|NM_000090,p.L1021F|uc002uqj.1,p.L1021F	retained_intron, protein_coding	uc002uqj.1	nonsynonymous SNV	exon42	c.C3061T	p.L1021F	EPGRDGNPGSDGLPGRDGSPGGKGD	EPGRDGNPGSDGFPGRDGSPGGKGD	10.0	9.0	-	-	4301_2:189870953-189870953 C>T_EPGRDGNPGSDGFPGRDGSPGGKGD
8:52321876-52321876 G>A	0.0	4301	MELANOMA	-	-	-	-	PXDNL	NM_144651,p.P770S|ENST00000356297,p.P770S|ENST00000543296,p.P770S|ENST00000522628,p.P36S|uc003xqu.4,p.P770S	retained_intron, protein_coding, nonsense_mediated_decay	uc003xqu.4	nonsynonymous SNV	exon17	c.C2308T	p.P770S	RDGIRAPRGLGLPVGSRQPLPPPRL	RDGIRAPRGLGLSVGSRQPLPPPRL	4.0	7.0	-	-	4301_8:52321876-52321876 G>A_RDGIRAPRGLGLSVGSRQPLPPPRL
2:79971627-79971627 G>A	0.0	4301	MELANOMA	-	-	-	2	CTNNA2	uc010ysg.2,p.E73K|ENST00000361291,p.E107K|NM_001282598,p.E107K|uc010ysh.2,p.E73K|ENST00000541047,p.E73K|uc010ysf.2,p.E73K|NM_001164883,p.E73K|ENST00000540488,p.E73K|NM_004389,p.E73K|uc010yse.2,p.E73K|ENST00000466387,p.E73K|ENST00000409971,p.E73K|ENST00000402739,p.E73K|NM_001282597,p.E73K|ENST00000496558,p.E73K	retained_intron, protein_coding, processed_transcript	uc010ysh.2	nonsynonymous SNV	exon2	c.G217A	p.E73K	AASVEQATQNFLEKGEQIAKESQDL	AASVEQATQNFLKKGEQIAKESQDL	4.0	8.0	-	-	4301_2:79971627-79971627 G>A_AASVEQATQNFLKKGEQIAKESQDL
16:24902288-24902288 G>A	0.0	4301	MELANOMA	-	-	-	-	SLC5A11	uc010bxt.4,p.E191K|uc010vcd.3,p.E220K|ENST00000565769,p.E191K|ENST00000347898,p.E255K|NM_052944,p.E255K|NM_001258411,p.E220K|uc010vce.3,p.E185K|NM_001258413,p.E191K|uc002dmu.4,p.E255K|ENST00000545376,p.E185K|ENST00000539472,p.E191K|NM_001258412,p.E185K|ENST00000568579,p.E185K|uc002dms.4,p.E191K|ENST00000567758,p.E220K|ENST00000424767,p.E220K	retained_intron, protein_coding, nonsense_mediated_decay	uc010vce.3	nonsynonymous SNV	exon8	c.G553A	p.E185K	NRSENSSCGLPREDAFHIFRDPLTS	NRSENSSCGLPRKDAFHIFRDPLTS	5.0	6.0	-	-	4301_16:24902288-24902288 G>A_NRSENSSCGLPRKDAFHIFRDPLTS
2:115200372-115200372 G>A	0.0	4301	MELANOMA	-	-	-	-	DPP10	NM_020868,p.S6N|ENST00000410059,p.S6N|uc002tla.2,p.S6N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002tla.2	nonsynonymous SNV	exon1	c.G17A	p.S6N	MNQTASVSHHIKCQPSKT	MNQTANVSHHIKCQPSKT	1.0	9.0	-	-	4301_2:115200372-115200372 G>A_MNQTANVSHHIKCQPSKT
19:41066344-41066344 C>T	0.0	4301	MELANOMA	-	-	-	-	SPTBN4	ENST00000392023,p.P660S|ENST00000595535,p.P1984S|uc002onx.3,p.P1984S|uc002ooa.3,p.P660S|NM_025213,p.P660S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ooa.3	nonsynonymous SNV	exon10	c.C1978T	p.P660S	RCPSSLLGLPASPWWPTPATPSPLT	RCPSSLLGLPASSWWPTPATPSPLT	4.0	9.0	-	-	4301_19:41066344-41066344 C>T_RCPSSLLGLPASSWWPTPATPSPLT
18:29104735-29104735 G>A	0.0	4301	MELANOMA	-	-	-	-	DSG2	uc002kwu.4,p.E300K|ENST00000261590,p.E300K|NM_001943,p.E300K	protein_coding	uc002kwu.4	nonsynonymous SNV	exon8	c.G898A	p.E300K	VEVTRIKVFDADEIGSDNWLANFTF	VEVTRIKVFDADKIGSDNWLANFTF	5.0	9.0	-	-	4301_18:29104735-29104735 G>A_VEVTRIKVFDADKIGSDNWLANFTF
8:55539335-55539335 A>G	0.0	4301	MELANOMA	-	-	-	-	RP1	NM_006269,p.S965G|ENST00000220676,p.S965G|uc003xsd.1,p.S965G	protein_coding	uc003xsd.1	nonsynonymous SNV	exon4	c.A2893G	p.S965G	SGNDPHTNSGKISNFVMESNKHITK	SGNDPHTNSGKIGNFVMESNKHITK	1.0	7.0	-	-	4301_8:55539335-55539335 A>G_SGNDPHTNSGKIGNFVMESNKHITK
14:76905784-76905784 C>T	0.0	4301	MELANOMA	-	-	-	-	ESRRB	ENST00000505752,p.L30F|uc001xsr.3,p.L30F|ENST00000509242,p.L30F|ENST00000380887,p.L30F|ENST00000512784,p.L35F|uc001xsq.1,p.L30F|NM_004452,p.L30F|ENST00000261532,p.L30F|ENST00000556177,p.L30F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001xsr.3	nonsynonymous SNV	exon4	c.C88T	p.L30F	TEPSSPSSGIDALSHHSPSGSSDAS	TEPSSPSSGIDAFSHHSPSGSSDAS	2.0	7.0	-	-	4301_14:76905784-76905784 C>T_TEPSSPSSGIDAFSHHSPSGSSDAS
17:10558195-10558195 C>T	0.0	4301	MELANOMA	-	-	-	-	MYH3	uc002gmq.2,p.E63K|ENST00000583535,p.E63K|NM_002470,p.E63K|ENST00000226209,p.E63K	retained_intron, protein_coding	uc002gmq.2	nonsynonymous SNV	exon3	c.G187A	p.E63K	KIKSSQDGKVTVETEDNRTLVVKPE	KIKSSQDGKVTVKTEDNRTLVVKPE	6.0	6.0	-	-	4301_17:10558195-10558195 C>T_KIKSSQDGKVTVKTEDNRTLVVKPE
6:47649221-47649221 C>T	0.0	4301	MELANOMA	-	-	ID=COSM1672474,COSM1672475;OCCURENCE=1(skin)	-	GPR111	ENST00000467205,p.S241F|uc010jzj.1,p.S309F|NM_153839,p.S241F|ENST00000507065,p.S241F|ENST00000296862,p.S309F|ENST00000398742,p.S241F|uc003oyy.3,p.S241F	protein_coding, nonsense_mediated_decay	uc010jzj.1	nonsynonymous SNV	exon6	c.C926T	p.S309F	ISGDNIGKNFTFSMRINDTSNEVTG	ISGDNIGKNFTFFMRINDTSNEVTG	1.0	6.0	-	-	4301_6:47649221-47649221 C>T_ISGDNIGKNFTFFMRINDTSNEVTG
12:14019007-14019007 C>T	0.0	4301	MELANOMA	-	-	ID=COSM261193;OCCURENCE=1(large_intestine)	-	GRIN2B	NM_000834,p.D46N|ENST00000279593,p.D46N|uc001rbt.2,p.D46N	protein_coding	uc001rbt.2	nonsynonymous SNV	exon2	c.G136A	p.D46N	SIGIAVILVGTSDEVAIKDAHEKDD	SIGIAVILVGTSNEVAIKDAHEKDD	3.0	8.0	-	-	4301_12:14019007-14019007 C>T_SIGIAVILVGTSNEVAIKDAHEKDD
16:68010070-68010070 G>A	0.0	4301	MELANOMA	-	-	-	-	DPEP3	NM_022357,p.R411C|uc010cex.3,p.R410C|ENST00000268793,p.R411C|NM_001129758,p.R410C|uc002evc.4,p.R411C	protein_coding, processed_transcript	uc010cex.3	nonsynonymous SNV	exon9	c.C1228T	p.R410C	STYPVLIEELLSRSWSEEELQGVLR	STYPVLIEELLSCSWSEEELQGVLR	4.0	7.0	-	-	4301_16:68010070-68010070 G>A_STYPVLIEELLSCSWSEEELQGVLR
17:39661493-39661493 C>T	0.0	4301	MELANOMA	-	-	-	-	KRT13	uc002hwu.1,p.E104K|ENST00000587435,p.E104K|ENST00000587544,p.E104K|NM_153490,p.E104K|uc010cxo.3,p.E104K|ENST00000336861,p.E104K|ENST00000246635,p.E104K|uc002hwv.1,p.E104K|NM_002274,p.E104K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cxo.3	nonsynonymous SNV	exon1	c.G310A	p.E104K	FGACDGGLLTGNEKITMQNLNDRLA	FGACDGGLLTGNKKITMQNLNDRLA	1.0	6.0	-	-	4301_17:39661493-39661493 C>T_FGACDGGLLTGNKKITMQNLNDRLA
12:129190448-129190448 G>A	0.0	4301	MELANOMA	-	-	-	-	TMEM132C	ENST00000315208,p.E595K|ENST00000537538,p.E364K|ENST00000435159,p.E979K|uc021rgn.1,p.E979K|NM_001136103,p.E979K	protein_coding	uc021rgn.1	nonsynonymous SNV	exon9	c.G2935A	p.E979K	HSHDWVWLGNEAELLESMGDAPPPQ	HSHDWVWLGNEAKLLESMGDAPPPQ	5.0	6.0	-	-	4301_12:129190448-129190448 G>A_HSHDWVWLGNEAKLLESMGDAPPPQ
11:26702641-26702641 G>A	0.0	4301	MELANOMA	-	-	-	-	SLC5A12	NM_178498,p.S479L|ENST00000396005,p.S479L|uc001mra.2,p.S479L	retained_intron, protein_coding, nonsense_mediated_decay	uc001mra.2	nonsynonymous SNV	exon12	c.C1436T	p.S479L	WPLPLSTDQCIKSNVTATGPPVLSS	WPLPLSTDQCIKLNVTATGPPVLSS	2.0	7.0	-	-	4301_11:26702641-26702641 G>A_WPLPLSTDQCIKLNVTATGPPVLSS
1:46978026-46978026 T>C	0.0	4301	MELANOMA	-	-	-	-	DMBX1	NM_147192,p.S337P|ENST00000371956,p.S337P|ENST00000360032,p.S332P|uc001cpx.3,p.S337P|uc001cpw.3,p.S332P|NM_172225,p.S332P	protein_coding	uc001cpx.3	nonsynonymous SNV	exon4	c.T1009C	p.S337P	SAAAAAHQGVWGSPLLPAPPAGLAP	SAAAAAHQGVWGPPLLPAPPAGLAP	1.0	3.0	-	-	4301_1:46978026-46978026 T>C_SAAAAAHQGVWGPPLLPAPPAGLAP
14:70039928-70039928 C>T	0.0	4301	MELANOMA	-	-	-	-	CCDC177	uc031qpg.1,p.E138K|uc010aqy.4,p.E138K|ENST00000599174,p.E138K|NM_001271507,p.E138K	protein_coding	uc031qpg.1	nonsynonymous SNV	exon1	c.G412A	p.E138K	SMRVATGLYEAYEAERRAKLQQCRA	SMRVATGLYEAYKAERRAKLQQCRA	1.0	4.0	-	-	4301_14:70039928-70039928 C>T_SMRVATGLYEAYKAERRAKLQQCRA
17:1657514-1657514 G>A	0.0	4301	MELANOMA	-	-	ID=COSM1381142;OCCURENCE=1(large_intestine)	-	SERPINF2	NM_001165921,p.E324K|uc002ftk.1,p.E388K|NM_000934,p.E388K|ENST00000382061,p.E388K|ENST00000324015,p.E388K|NM_001165920,p.E388K|uc021tnm.1,p.E388K|ENST00000450523,p.E324K|uc010vqr.1,p.E324K	protein_coding	uc021tnm.1	nonsynonymous SNV	exon10	c.G1162A	p.E388K	SGVQHQSTLELSEVGVEAAAATSIA	SGVQHQSTLELSKVGVEAAAATSIA	7.0	4.0	-	-	4301_17:1657514-1657514 G>A_SGVQHQSTLELSKVGVEAAAATSIA
17:39023182-39023182 C>T	0.0	4301	MELANOMA	-	-	-	-	KRT12	uc002hvk.2,p.G86E|ENST00000251643,p.G86E|NM_000223,p.G86E	protein_coding	uc002hvk.2	nonsynonymous SNV	exon1	c.G257A	p.G86E	GSSMAGGLGAGYGRALGGGSFGGLG	GSSMAGGLGAGYERALGGGSFGGLG	1.0	5.0	-	-	4301_17:39023182-39023182 C>T_GSSMAGGLGAGYERALGGGSFGGLG
5:140725338-140725338 C>T	0.0	4301	MELANOMA	-	-	ID=COSM267132;OCCURENCE=1(large_intestine)	-	PCDHGA3	uc003ljm.2,p.R580C|NM_018916,p.R580C|NM_032011,p.R580C|uc011dap.2,p.R580C|ENST00000253812,p.R580C	protein_coding	uc011dap.2	nonsynonymous SNV	exon1	c.C1738T	p.R580C	PTDGSTGVELAPRSAEPGYLVTKVV	PTDGSTGVELAPCSAEPGYLVTKVV	4.0	5.0	-	-	4301_5:140725338-140725338 C>T_PTDGSTGVELAPCSAEPGYLVTKVV
3:159482833-159482833 T>C	0.0	4301	MELANOMA	-	-	-	-	IQCJ-SCHIP1,SCHIP1	uc003fcs.2,p.M222T|ENST00000485419,p.M298T|uc010hvz.1,p.M195T|NM_001197107,p.M222T|ENST00000476809,p.M271T|NM_001197113,p.M298T|uc003fcr.2,p.M271T|uc003fcq.2,p.M298T|NM_001197114,p.M271T|ENST00000460298,p.M195T|ENST00000412423,p.M222T|ENST00000337808,p.M222T|uc003fct.2,p.M222T|NM_014575,p.M222T	protein_coding, processed_transcript	uc010hvz.1	nonsynonymous SNV	exon2	c.T584C	p.M195T	GTCVPEEPPVPPMDWEALEKHLAGL	GTCVPEEPPVPPTDWEALEKHLAGL	7.0	1.0	-	-	4301_3:159482833-159482833 T>C_GTCVPEEPPVPPTDWEALEKHLAGL
1:2252842-2252842 C>T	0.0	4301	MELANOMA	-	-	-	-	MORN1	uc001ajb.1,p.E492K|ENST00000378531,p.E492K|NM_024848,p.E492K	retained_intron, protein_coding	uc001ajb.1	nonsynonymous SNV	exon14	c.G1474A	p.E492K	SSSWQAAHSCTPEPPAPR	SSSWQAAHSCTPKPPAPR	7.0	3.0	-	-	4301_1:2252842-2252842 C>T_SSSWQAAHSCTPKPPAPR
19:32083709-32083709 G>A	0.0	4301	MELANOMA	-	-	-	-	THEG5	ENST00000607852,p.G71R|NM_001278575,p.G63R|NM_001278577,p.G63R|NM_001278576,p.G63R|NM_001278578,p.G63R|uc021urz.1,p.G71R|NM_001205273,p.G71R	-	uc021urz.1	nonsynonymous SNV	exon2	c.G211A	p.G71R	GCGSDGSTAVHPGGWTCVPGYQSLR	GCGSDGSTAVHPRGWTCVPGYQSLR	1.0	4.0	-	-	4301_19:32083709-32083709 G>A_GCGSDGSTAVHPRGWTCVPGYQSLR
11:4790448-4790448 C>T	0.0	4301	MELANOMA	-	-	-	-	OR51F1	NM_001004752,p.E234K|ENST00000380383,p.E241K|ENST00000343430,p.E234K|uc010qyl.2,p.E234K	protein_coding	uc010qyl.2	nonsynonymous SNV	exon1	c.G700A	p.E234K	LIIHSVLRIASPEEWHKVFSTCVSH	LIIHSVLRIASPKEWHKVFSTCVSH	1.0	2.0	-	-	4301_11:4790448-4790448 C>T_LIIHSVLRIASPKEWHKVFSTCVSH
20:44333611-44333611 C>A	0.0	4301	MELANOMA	-	-	-	-	WFDC10B	ENST00000335769,p.R7M|uc002xpc.3,p.R7M|NM_172131,p.R7M	protein_coding	uc002xpc.3	nonsynonymous SNV	exon1	c.G20T	p.R7M	MVSCERRASKSVGQILLWD	MVSCERMASKSVGQILLWD	4.0	4.0	-	-	4301_20:44333611-44333611 C>A_MVSCERMASKSVGQILLWD
21:37833458-37833458 G>A	0.0	4301	MELANOMA	-	-	-	-	CLDN14	ENST00000399135,p.T179I|uc002yvl.1,p.T179I|ENST00000399137,p.T179I|uc002yvk.2,p.T179I|ENST00000342108,p.T179I|uc021wja.1,p.T179I|uc002yvm.1,p.T179I|uc002yvo.1,p.T179I|ENST00000399139,p.T179I|NM_001146079,p.T179I|NM_001146077,p.T179I|NM_144492,p.T179I|NM_012130,p.T179I|ENST00000399136,p.T179I|NM_001146078,p.T179I|uc002yvn.2,p.T179I	protein_coding, processed_transcript	uc021wja.1	nonsynonymous SNV	exon1	c.C536T	p.T179I	GFISSSLSLIGGTLLCLSCQDEAPY	GFISSSLSLIGGILLCLSCQDEAPY	5.0	3.0	-	-	4301_21:37833458-37833458 G>A_GFISSSLSLIGGILLCLSCQDEAPY
5:128365384-128365384 G>A	0.0	4301	MELANOMA	-	-	-	-	SLC27A6	NM_014031,p.R556Q|NM_001017372,p.R556Q|ENST00000262462,p.R556Q|ENST00000506176,p.R556Q|uc003kuy.3,p.R556Q|uc003kuz.3,p.R556Q|ENST00000395266,p.R556Q	protein_coding	uc003kuz.3	nonsynonymous SNV	exon9	c.G1667A	p.R556Q	QVVTFLPAYACPRFLRIQEKMEATG	QVVTFLPAYACPQFLRIQEKMEATG	4.0	2.0	-	-	4301_5:128365384-128365384 G>A_QVVTFLPAYACPQFLRIQEKMEATG
18:45566986-45566986 C>T	0.0	4301	MELANOMA	-	-	ID=COSM988701;OCCURENCE=1(endometrium)	-	ZBTB7C	uc010doo.1,p.D165N|ENST00000588982,p.D165N|ENST00000332053,p.D165N|ENST00000586438,p.D165N|uc010doc.1,p.D174N|uc010don.1,p.D173N|NM_001039360,p.D165N|uc010dnu.3,p.D174N|uc010dob.1,p.D165N|uc010dor.1,p.D187N|uc010doi.1,p.D165N|uc010dnz.1,p.D187N|uc010dog.1,p.D165N|uc010doh.1,p.D174N|uc010dop.1,p.D165N|uc010dos.1,p.D165N|uc002ldb.3,p.D165N|uc010dod.1,p.D187N|uc010dok.1,p.D214N|uc010doe.1,p.D165N|uc010dot.1,p.D165N|ENST00000590800,p.D165N|uc010doa.1,p.D187N|uc010dnw.3,p.D165N|uc010dny.1,p.D165N|uc010dnx.1,p.D165N|uc010dou.1,p.D174N|uc010doj.1,p.D174N|uc010dof.1,p.D165N|ENST00000535628,p.D165N|uc010dom.1,p.D174N|uc010dol.1,p.D174N|uc010doq.1,p.D174N|uc010dnv.3,p.D187N	protein_coding	uc010dou.1	nonsynonymous SNV	exon6	c.G520A	p.D174N	DEEEEEEEEEDDDDDTEDFADQENL	DEEEEEEEEEDDNDDTEDFADQENL	5.0	7.0	-	-	4301_18:45566986-45566986 C>T_DEEEEEEEEEDDNDDTEDFADQENL
5:41313844-41313844 G>A	0.0	4301	MELANOMA	-	-	ID=COSM1695728;OCCURENCE=1(skin)	-	PLCXD3	NM_001005473,p.R281C|ENST00000328457,p.R281C|uc003jmm.1,p.R281C|ENST00000377801,p.R281C	protein_coding	uc003jmm.1	nonsynonymous SNV	exon3	c.C841T	p.R281C	TERALPAMMQWVRTQKPGESGINIV	TERALPAMMQWVCTQKPGESGINIV	5.0	5.0	-	-	4301_5:41313844-41313844 G>A_TERALPAMMQWVCTQKPGESGINIV
4:6087308-6087308 C>T	0.0	4301	MELANOMA	-	-	-	-	JAKMIP1	uc003giu.4,p.E225K|NM_144720,p.E225K|ENST00000409831,p.E225K|uc010ide.3,p.E225K|uc010idd.1,p.E225K|uc003giv.4,p.E225K|ENST00000282924,p.E225K|uc010idb.1,p.E225K|uc010idc.1,p.E60K|NM_001099433,p.E225K|ENST00000409021,p.E225K|uc011bwc.2,p.E60K|ENST00000473053,p.E225K|ENST00000410077,p.E60K|ENST00000409371,p.E60K	protein_coding, processed_transcript, nonsense_mediated_decay	uc011bwc.2	nonsynonymous SNV	exon3	c.G178A	p.E60K	KGKDRVILALEKELGVQAGQTQKLL	KGKDRVILALEKKLGVQAGQTQKLL	6.0	4.0	-	-	4301_4:6087308-6087308 C>T_KGKDRVILALEKKLGVQAGQTQKLL
19:43579563-43579563 C>T	0.0	4301	MELANOMA	-	-	-	-	PSG2	NM_031246,p.E218K|uc002ovr.3,p.E218K|ENST00000406487,p.E218K	protein_coding, processed_transcript	uc002ovr.3	nonsynonymous SNV	exon3	c.G652A	p.E218K	GVTKYTAGPYECEIRNSGSASRSDP	GVTKYTAGPYECKIRNSGSASRSDP	1.0	5.0	-	-	4301_19:43579563-43579563 C>T_GVTKYTAGPYECKIRNSGSASRSDP
12:40677734-40677734 C>T	0.0	4301	MELANOMA	-	-	ID=COSM2065641,COSM2065642;OCCURENCE=1(oesophagus)	-	LRRK2	ENST00000343742,p.R767C|uc001rmg.4,p.R767C|ENST00000298910,p.R767C|uc001rmh.1,p.R389C|NM_198578,p.R767C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rmh.1	nonsynonymous SNV	exon10	c.C1165T	p.R389C	PKLVELLLNSGSREQDVRKALTISI	PKLVELLLNSGSCEQDVRKALTISI	7.0	4.0	-	-	4301_12:40677734-40677734 C>T_PKLVELLLNSGSCEQDVRKALTISI
1:240371764-240371764 C>T	0.0	4301	MELANOMA	-	-	-	-	FMN2	uc010pye.2,p.P1222S|ENST00000319653,p.P1218S|uc010pyd.2,p.P1218S|NM_020066,p.P1218S	protein_coding, processed_transcript	uc010pye.2	nonsynonymous SNV	exon6	c.C3664T	p.P1222S	IPPPPPLPGMGIPPAPAPPLPPPGT	IPPPPPLPGMGISPAPAPPLPPPGT	3.0	5.0	-	-	4301_1:240371764-240371764 C>T_IPPPPPLPGMGISPAPAPPLPPPGT
1:228582422-228582422 G>A	1.0	4301	MELANOMA	-	-	-	-	TRIM11	uc010pvx.2,p.T463I|uc001hss.3,p.T464I|ENST00000284551,p.T464I|NM_145214,p.T464I|ENST00000493030,p.T339I	protein_coding, processed_transcript	uc010pvx.2	nonsynonymous SNV	exon6	c.C1388T	p.T463I	MTICRPKGGSGDTLAPQ	MTICRPKGGSGDILAPQ	8.0	1.0	-	-	4301_1:228582422-228582422 G>A_MTICRPKGGSGDILAPQ
12:80735917-80735917 G>A	0.0	4301	MELANOMA	-	-	-	-	OTOGL	NM_173591,p.R1738K|uc001szd.3,p.R1738K|ENST00000458043,p.R1738K|ENST00000547103,p.R1726K	protein_coding, nonsense_mediated_decay	uc001szd.3	nonsynonymous SNV	exon43	c.G5213A	p.R1738K	HDCSQCIDLLNRRIFIPCHDKVSPE	HDCSQCIDLLNRKIFIPCHDKVSPE	4.0	1.0	-	-	4301_12:80735917-80735917 G>A_HDCSQCIDLLNRKIFIPCHDKVSPE
22:45754630-45754630 C>T	0.0	4301	MELANOMA	-	-	-	-	SMC1B	ENST00000357450,p.E970K|NM_148674,p.E970K|NM_001291501,p.E970K|ENST00000404354,p.E970K|uc003bgd.3,p.E970K|uc003bgc.3,p.E970K	protein_coding	uc003bgd.3	nonsynonymous SNV	exon19	c.G2908A	p.E970K	EAESTQATIDIYEKEEAFEIDYSSL	EAESTQATIDIYKKEEAFEIDYSSL	4.0	2.0	-	-	4301_22:45754630-45754630 C>T_EAESTQATIDIYKKEEAFEIDYSSL
6:46661197-46661197 G>A	0.0	4301	MELANOMA	-	-	-	-	TDRD6	NM_001168359,p.E1778K|ENST00000544460,p.E1778K|ENST00000316081,p.E1778K|uc003oyj.3,p.E1778K|uc010jze.3,p.E1778K|NM_001010870,p.E1778K	protein_coding	uc010jze.3	nonsynonymous SNV	exon1	c.G5332A	p.E1778K	SNFRDPKTDNICEGFENPCKDKIDT	SNFRDPKTDNICKGFENPCKDKIDT	4.0	3.0	-	-	4301_6:46661197-46661197 G>A_SNFRDPKTDNICKGFENPCKDKIDT
8:76476257-76476257 G>A	0.0	4301	MELANOMA	-	-	-	-	HNF4G	uc003yaq.3,p.E385K|uc003yar.3,p.E422K|NM_004133,p.E422K|ENST00000354370,p.E385K|ENST00000396423,p.E422K	protein_coding, processed_transcript	uc003yar.3	nonsynonymous SNV	exon10	c.G1264A	p.E422K	TPLPSPPQGSGQEQYKIAANQASVI	TPLPSPPQGSGQKQYKIAANQASVI	2.0	5.0	-	-	4301_8:76476257-76476257 G>A_TPLPSPPQGSGQKQYKIAANQASVI
20:25300846-25300846 G>C	1.0	4301	MELANOMA	-	-	-	-	ABHD12	uc002wus.2,p.N177K|ENST00000471287,p.N20K|ENST00000376542,p.N177K|uc002wuq.3,p.N177K|ENST00000339157,p.N177K|NM_001042472,p.N177K|ENST00000491682,p.N20K|ENST00000450393,p.N132K|NM_015600,p.N177K	protein_coding, processed_transcript, nonsense_mediated_decay	uc002wus.2	nonsynonymous SNV	exon4	c.C531G	p.N177K	ASSHPIILYLHGNAGTRGGDHRVEL	ASSHPIILYLHGKAGTRGGDHRVEL	9.0	3.0	-	-	4301_20:25300846-25300846 G>C_ASSHPIILYLHGKAGTRGGDHRVEL
4:91234071-91234071 G>A	0.0	4301	MELANOMA	-	-	-	-	CCSER1	NM_207491,p.R461Q|uc003hsw.3,p.R461Q|ENST00000333691,p.R461Q|uc003hsu.3,p.R461Q|ENST00000509176,p.R461Q|ENST00000432775,p.R461Q|ENST00000505073,p.R461Q|NM_001145065,p.R461Q|uc003hsv.4,p.R461Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003hsw.3	nonsynonymous SNV	exon3	c.G1382A	p.R461Q	PFREGRFIERRLRSSSEGTAGSSRM	PFREGRFIERRLQSSSEGTAGSSRM	7.0	2.0	-	-	4301_4:91234071-91234071 G>A_PFREGRFIERRLQSSSEGTAGSSRM
8:102644463-102644463 G>A	0.0	4301	MELANOMA	-	-	-	-	GRHL2	uc010mbu.3,p.G452E|NM_024915,p.G452E|ENST00000251808,p.G452E|ENST00000395927,p.G436E	retained_intron, protein_coding, processed_transcript	uc010mbu.3	nonsynonymous SNV	exon11	c.G1355A	p.G452E	QASQTQCNSSSDGKLAAIPLQKKSD	QASQTQCNSSSDEKLAAIPLQKKSD	1.0	4.0	-	-	4301_8:102644463-102644463 G>A_QASQTQCNSSSDEKLAAIPLQKKSD
16:29676008-29676008 G>A	0.0	4301	MELANOMA	-	-	-	-	SPN	NM_001030288,p.G320E|uc002dtm.4,p.G320E|NM_003123,p.G320E|uc002dtn.4,p.G320E|uc021tgd.1,p.G320E|ENST00000563039,p.G320E|ENST00000360121,p.G320E|ENST00000436527,p.G320E|ENST00000395389,p.G320E	protein_coding, nonsense_mediated_decay	uc021tgd.1	nonsynonymous SNV	exon1	c.G959A	p.G320E	QVPEEGAVTVTVGGSGGDKGSGFPD	QVPEEGAVTVTVEGSGGDKGSGFPD	9.0	3.0	-	-	4301_16:29676008-29676008 G>A_QVPEEGAVTVTVEGSGGDKGSGFPD
1:115398147-115398147 C>T	0.0	4301	MELANOMA	-	-	-	-	SYCP1	uc009wgw.3,p.S21F|ENST00000369522,p.S21F|ENST00000369518,p.S21F|uc001efq.3,p.S21F|NM_001282541,p.S21F|NM_001282542,p.S21F|ENST00000455987,p.S21F|NM_003176,p.S21F|uc001efr.3,p.S21F	protein_coding, processed_transcript	uc009wgw.3	nonsynonymous SNV	exon2	c.C62T	p.S21F	LFVPPRSSSSQVSAVKPQTLGGDST	LFVPPRSSSSQVFAVKPQTLGGDST	1.0	1.0	-	-	4301_1:115398147-115398147 C>T_LFVPPRSSSSQVFAVKPQTLGGDST
11:59837686-59837686 T>C	0.0	4301	MELANOMA	-	-	-	-	MS4A3	uc001nom.3,p.S209P|NM_006138,p.S209P|ENST00000534744,p.S163P|ENST00000358152,p.S163P|NM_001031666,p.S86P|uc001non.3,p.S163P|NM_001031809,p.S163P|uc001noo.3,p.S86P|ENST00000395032,p.S86P|ENST00000278865,p.S209P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001noo.3	nonsynonymous SNV	exon5	c.T256C	p.S86P	NANCCNSREEISSPPNSV	NANCCNSREEISPPPNSV	2.0	4.0	-	-	4301_11:59837686-59837686 T>C_NANCCNSREEISPPPNSV
16:3304317-3304317 C>T	0.0	4301	MELANOMA	-	-	-	-	MEFV	ENST00000538326,p.E251K|ENST00000537682,p.E251K|ENST00000219596,p.E251K|NM_000243,p.E251K|ENST00000542898,p.E251K|ENST00000570511,p.E251K|uc002cun.1,p.E251K	retained_intron, protein_coding, nonsense_mediated_decay	uc002cun.1	nonsynonymous SNV	exon2	c.G751A	p.E251K	RPRSLEVTISTGEKAPANPEILLTL	RPRSLEVTISTGKKAPANPEILLTL	5.0	5.0	-	-	4301_16:3304317-3304317 C>T_RPRSLEVTISTGKKAPANPEILLTL
8:3046464-3046464 C>T	0.0	4301	MELANOMA	-	-	-	-	CSMD1	uc011kwj.2,p.G1216E|ENST00000602723,p.G1824E|ENST00000520002,p.G1824E|NM_033225,p.G1823E|ENST00000602557,p.G1824E|ENST00000542608,p.G1823E|ENST00000400186,p.G1824E|uc022aqr.1,p.G1823E|uc003wqe.3,p.G980E|ENST00000537824,p.G1823E|ENST00000539096,p.G1823E	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon35	c.G5468A	p.G1823E	GTILSPGYPEPYGNNLNCIWKIIVT	GTILSPGYPEPYENNLNCIWKIIVT	3.0	1.0	-	-	4301_8:3046464-3046464 C>T_GTILSPGYPEPYENNLNCIWKIIVT
12:113319613-113319613 C>T	0.0	4301	MELANOMA	-	-	-	-	RPH3A	ENST00000389385,p.P430S|uc010sym.2,p.P381S|uc001ttz.3,p.P430S|ENST00000543106,p.P430S|NM_014954,p.P426S|uc010syl.2,p.P430S|uc009zwe.1,p.P426S|NM_001143854,p.P430S|uc001tty.3,p.P426S|ENST00000551052,p.P426S|ENST00000548866,p.P381S|ENST00000447659,p.P381S|ENST00000420983,p.P430S|ENST00000415485,p.P430S|uc001tua.3,p.P190S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sym.2	nonsynonymous SNV	exon13	c.C1141T	p.P381S	GLKPMDSNGLADPYVKLHLLPGASK	GLKPMDSNGLADSYVKLHLLPGASK	3.0	1.0	-	-	4301_12:113319613-113319613 C>T_GLKPMDSNGLADSYVKLHLLPGASK
4:70079978-70079978 G>A	0.0	4301	MELANOMA	-	-	-	-	UGT2B11	NM_001073,p.P155S|ENST00000446444,p.P155S|uc003heh.3,p.P155S	retained_intron, protein_coding	uc003heh.3	nonsynonymous SNV	exon1	c.C463T	p.P155S	SRFDIVFADAVFPCGELLAALLNIR	SRFDIVFADAVFSCGELLAALLNIR	1.0	2.0	-	-	4301_4:70079978-70079978 G>A_SRFDIVFADAVFSCGELLAALLNIR
7:31855733-31855733 G>A	0.0	4301	MELANOMA	-	-	ID=COSM1450409,COSM1450408,COSM1450407;OCCURENCE=1(large_intestine)	-	PDE1C	NM_001191058,p.R600C|uc003tco.2,p.R600C|ENST00000321453,p.R540C|uc003tcs.3,p.R540C|uc003tcm.2,p.R540C|ENST00000396193,p.R600C|ENST00000396191,p.R540C|NM_001191059,p.R540C|NM_005020,p.R540C|NM_001191057,p.R540C|ENST00000396182,p.R540C|NM_001191056,p.R540C|uc003tcn.1,p.R540C|ENST00000396184,p.R540C|uc003tcr.3,p.R540C	retained_intron, protein_coding, processed_transcript	uc003tcs.3	nonsynonymous SNV	exon16	c.C1618T	p.R540C	EEKAKKEAEEKARLAAEEQQKEMEA	EEKAKKEAEEKACLAAEEQQKEMEA	5.0	4.0	-	-	4301_7:31855733-31855733 G>A_EEKAKKEAEEKACLAAEEQQKEMEA
6:49986824-49986824 G>A	0.0	4301	MELANOMA	-	-	-	-	DEFB110	ENST00000371148,p.P24S|NM_001037497,p.P24S|uc003pac.3,p.P24S	protein_coding	uc003pac.3	nonsynonymous SNV	exon2	c.C70T	p.P24S	FWVTILPAKKKYPEYGSLDLRRECR	FWVTILPAKKKYSEYGSLDLRRECR	1.0	1.0	-	-	4301_6:49986824-49986824 G>A_FWVTILPAKKKYSEYGSLDLRRECR
1:118558776-118558776 C>T	0.0	4301	MELANOMA	-	-	-	-	SPAG17	uc001ehk.2,p.A1367T|NM_206996,p.A1367T|ENST00000336338,p.A1367T	protein_coding, processed_transcript	uc001ehk.2	nonsynonymous SNV	exon29	c.G4099A	p.A1367T	KKGKSHKSQSSMAHKGEIHDPPPEA	KKGKSHKSQSSMTHKGEIHDPPPEA	3.0	1.0	-	-	4301_1:118558776-118558776 C>T_KKGKSHKSQSSMTHKGEIHDPPPEA
16:81411091-81411091 C>T	0.0	4301	MELANOMA	-	-	-	-	GAN	ENST00000248272,p.P562S|NM_022041,p.P562S|uc002fgo.3,p.P562S	protein_coding, processed_transcript	uc002fgo.3	nonsynonymous SNV	exon11	c.C1684T	p.P562S	STGTWHHTKPLLPSDLRRTGCAALR	STGTWHHTKPLLSSDLRRTGCAALR	5.0	1.0	-	-	4301_16:81411091-81411091 C>T_STGTWHHTKPLLSSDLRRTGCAALR
4:94145872-94145872 A>T	0.0	4301	MELANOMA	-	-	-	-	GRID2	uc011cdu.2,p.R262S|NM_001510,p.R357S|ENST00000282020,p.R357S|uc010ikz.1,p.R38S|uc011cdt.2,p.R357S|ENST00000512631,p.R38S|ENST00000510992,p.R262S|NM_001286838,p.R262S	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cdu.2	nonsynonymous SNV	exon6	c.A786T	p.R262S	RKWHSMASLSCIRKNSKPWQGGRSM	RKWHSMASLSCISKNSKPWQGGRSM	2.0	3.0	-	-	4301_4:94145872-94145872 A>T_RKWHSMASLSCISKNSKPWQGGRSM
8:144996317-144996317 G>C	1.0	4301	MELANOMA	-	-	-	-	PLEC	ENST00000398774,p.R2526G|ENST00000354958,p.R2536G|uc003zab.1,p.R2558G|uc003zae.1,p.R2526G|NM_201380,p.R2695G|NM_201384,p.R2558G|ENST00000436759,p.R2585G|NM_000445,p.R2585G|uc003zaf.1,p.R2695G|ENST00000356346,p.R2544G|NM_201381,p.R2526G|uc003zad.2,p.R2558G|ENST00000345136,p.R2558G|NM_201379,p.R2536G|ENST00000354589,p.R2558G|uc003zah.2,p.R2544G|ENST00000357649,p.R2562G|uc003zag.1,p.R2536G|ENST00000322810,p.R2695G|NM_201383,p.R2562G|NM_201382,p.R2558G|ENST00000527096,p.R2581G|NM_201378,p.R2544G|uc003zac.1,p.R2562G|uc003zaj.2,p.R2585G	retained_intron, protein_coding	uc003zaj.2	nonsynonymous SNV	exon33	c.C7753G	p.R2585G	QRLVASMEEARRRQHEAEEGVRRKQ	QRLVASMEEARRGQHEAEEGVRRKQ	9.0	2.0	-	-	4301_8:144996317-144996317 G>C_QRLVASMEEARRGQHEAEEGVRRKQ
X:153008476-153008476 T>C, X:153008483-153008483 G>A	0.0	4301	MELANOMA	-	-	-	-	ABCD1	uc004fif.2,p.S606P|NM_000033,p.S606P|ENST00000218104,p.S606P	protein_coding	uc004fif.2	nonsynonymous SNV	exon8	c.T1816C, c.G1823A	p.S606P, p.G608D	GWEAMCDWKDVLSGGEKQRIGMARM	GWEAMCDWKDVLPGDEKQRIGMARM	7.0	3.0	-	Additional variant within 36 nucleotides, X:153008483-153008483 G>A, residue 15 G>D PR	4301_X:153008476-153008476 T>C, X:153008483-153008483 G>A_GWEAMCDWKDVLPGDEKQRIGMARM
8:29102955-29102955 C>T	1.0	4301	MELANOMA	-	-	-	-	KIF13B	ENST00000523968,p.D53N	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000523968	nonsynonymous SNV	exon3	c.G157A	p.D53N	LSWTSGPEEVKRD	LSWTSGPEEVKRN	7.0	4.0	-	-	4301_8:29102955-29102955 C>T_LSWTSGPEEVKRN
5:156592606-156592606 C>T	0.0	4301	MELANOMA	-	-	-	-	FAM71B	NM_130899,p.D192N|ENST00000302938,p.D192N|uc003lwn.3,p.D192N	protein_coding	uc003lwn.3	nonsynonymous SNV	exon1	c.G574A	p.D192N	ESYCSTPTLLSGDAPPEDNKSLVAA	ESYCSTPTLLSGNAPPEDNKSLVAA	1.0	4.0	-	-	4301_5:156592606-156592606 C>T_ESYCSTPTLLSGNAPPEDNKSLVAA
15:45427464-45427464 G>A	0.0	4301	MELANOMA	-	-	-	-	DUOX1	ENST00000561220,p.R157Q|ENST00000321429,p.R157Q|NM_017434,p.R157Q|ENST00000389037,p.R157Q|uc001zus.1,p.R157Q|uc001zut.1,p.R157Q|NM_175940,p.R157Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zut.1	nonsynonymous SNV	exon5	c.G470A	p.R157Q	PFQRSRWDPETGRSPSNPRDPANQV	PFQRSRWDPETGQSPSNPRDPANQV	5.0	2.0	-	-	4301_15:45427464-45427464 G>A_PFQRSRWDPETGQSPSNPRDPANQV
14:70990676-70990676 G>A	0.0	4301	MELANOMA	-	-	-	-	ADAM20	NM_003814,p.P317S|uc021rvs.1,p.P317S|uc001xme.3,p.P317S|ENST00000256389,p.P317S	protein_coding	uc021rvs.1	nonsynonymous SNV	exon1	c.C949T	p.P317S	TGIDIWTASNPLPTSGDLDNVLEDF	TGIDIWTASNPLSTSGDLDNVLEDF	4.0	1.0	-	-	4301_14:70990676-70990676 G>A_TGIDIWTASNPLSTSGDLDNVLEDF
3:108672599-108672599 C>T	0.0	4301	MELANOMA	-	-	-	-	GUCA1C	ENST00000393963,p.G4D|uc003dxk.2,p.G4D|NM_005459,p.G4D|ENST00000471108,p.G4D|uc003dxj.2,p.G4D|ENST00000261047,p.G4D	protein_coding	uc003dxk.2	nonsynonymous SNV	exon1	c.G11A	p.G4D	MGNGKSIAGDQKAVPT	MGNDKSIAGDQKAVPT	1.0	2.0	-	-	4301_3:108672599-108672599 C>T_MGNDKSIAGDQKAVPT
2:160042397-160042397 C>T	1.0	4316	COLON	-	-	-	-	TANC1	NM_001145909,p.A861V|uc010zcm.2,p.A861V|ENST00000263635,p.A869V|uc010fom.1,p.A675V|uc002uag.3,p.A869V|NM_033394,p.A869V|ENST00000454300,p.A763V	retained_intron, protein_coding	uc010zcm.2	nonsynonymous SNV	exon15	c.C2582T	p.A861V	QQTMELGHHILKAHIFKGLSKKTGI	QQTMELGHHILKVHIFKGLSKKTGI	8.0	6.0	-	-	4316_2:160042397-160042397 C>T_QQTMELGHHILKVHIFKGLSKKTGI
17:7578526-7578526 C>T	1.0	4316	COLON	-	-	ID=COSM99600,COSM2744946,COSM99599,COSM3691869,COSM10801,COSM99601,COSM99598;OCCURENCE=2(haematopoietic_and_lymphoid_tissue),1(thyroid),4(lung),3(upper_aerodigestive_tract),5(oesophagus),2(central_nervous_system),1(stomach),4(urinary_tract),2(liver),1(pancreas),1(prostate),10(large_intestine),1(skin),9(breast),1(autonomic_ganglia),8(ovary)	1	TP53	ENST00000604348,p.C128Y	retained_intron, protein_coding, processed_transcript	ENST00000604348	nonsynonymous SNV	exon5	c.G383A	p.C128Y	SGTAKSVTCTMFCQLAKTCPVQLWV	SGTAKSVTCTMFYQLAKTCPVQLWV	9.0	10.0	-	-	4316_17:7578526-7578526 C>T_SGTAKSVTCTMFYQLAKTCPVQLWV
10:114925334-114925334 G>A	1.0	4316	COLON	-	-	ID=COSM267875,COSM267877,COSM267876;OCCURENCE=3(large_intestine)	1	TCF7L2	NM_001198529,p.A441T|uc010qrk.2,p.A441T|uc021pyj.1,p.A464T|uc021pyh.1,p.A446T|ENST00000538897,p.A464T|NM_001146284,p.A437T|uc010qru.2,p.A363T|uc001lad.4,p.A437T	protein_coding, processed_transcript, nonsense_mediated_decay	uc021pyj.1	nonsynonymous SNV	exon14	c.G1390A	p.A464T	LPPITGEKKSAFATYKVKAAASAHP	LPPITGEKKSAFTTYKVKAAASAHP	10.0	8.0	-	-	4316_10:114925334-114925334 G>A_LPPITGEKKSAFTTYKVKAAASAHP
10:114925334-114925334 G>A	1.0	4316	COLON	-	-	ID=COSM267875,COSM267877,COSM267876;OCCURENCE=3(large_intestine)	1	TCF7L2	NM_001198530,p.A390T|ENST00000355717,p.A471T|uc010qro.2,p.A424T|NM_001146286,p.A424T|uc021pyo.1,p.A452T|uc010qrn.2,p.A390T|ENST00000369389,p.A158T|uc001lag.4,p.A471T|NM_001198531,p.A447T|NM_001146283,p.A471T|uc010qrm.2,p.A447T|uc021pym.1,p.A420T|uc021pyp.1,p.A443T|uc021pyl.1,p.A429T	protein_coding, processed_transcript, nonsense_mediated_decay	uc021pyp.1	nonsynonymous SNV	exon13	c.G1327A	p.A443T	PGETNGEKKSAFATYKVKAAASAHP	PGETNGEKKSAFTTYKVKAAASAHP	10.0	8.0	-	-	4316_10:114925334-114925334 G>A_PGETNGEKKSAFTTYKVKAAASAHP
17:63530030-63530030 ->TA	1.0	4316	COLON	-	-	-	1	AXIN2	NM_004655,p.R802fs|ENST00000375702,p.R737fs|uc002jfh.3,p.R737fs|uc002jfi.3,p.R802fs|ENST00000307078,p.R802fs	retained_intron, protein_coding	uc002jfi.3	frameshift insertion	exon10	c.2404_2405insTA	p.R802fs	HFKEQLSKKGNYRYYFKKASDEFAC	HFKEQLSKKGNYIGITSKKQAMSLPVERCLRRSGRMRRCSRCMKAGFWAKWSGSI	10.0	9.0	-	-	4316_17:63530030-63530030 ->TA_HFKEQLSKKGNYIGITSKKQAMSLPVERCLRRSGRMRRCSRCMKAGFWAKWSGSI
11:2906560-2906560 T>A	1.0	4316	COLON	-	-	-	-	CDKN1C	uc001lws.4,p.N54Y|ENST00000414822,p.N54Y|uc001lwu.4,p.N43Y|NM_000076,p.N54Y|ENST00000313407,p.N43Y|uc009ydr.3,p.N43Y|ENST00000430149,p.N54Y|ENST00000440480,p.N43Y|uc001lwr.4,p.N54Y|NM_001122630,p.N43Y|ENST00000380725,p.N43Y|NM_001122631,p.N43Y	retained_intron, protein_coding	uc009ydr.3	nonsynonymous SNV	exon2	c.A127T	p.N43Y	LSRELQARLAELNAEDQNRWDYDFQ	LSRELQARLAELYAEDQNRWDYDFQ	6.0	5.0	-	-	4316_11:2906560-2906560 T>A_LSRELQARLAELYAEDQNRWDYDFQ
17:7578526-7578526 C>T	1.0	4316	COLON	-	-	ID=COSM99600,COSM2744946,COSM99599,COSM3691869,COSM10801,COSM99601,COSM99598;OCCURENCE=2(haematopoietic_and_lymphoid_tissue),1(thyroid),4(lung),3(upper_aerodigestive_tract),5(oesophagus),2(central_nervous_system),1(stomach),4(urinary_tract),2(liver),1(pancreas),1(prostate),10(large_intestine),1(skin),9(breast),1(autonomic_ganglia),8(ovary)	1	TP53	ENST00000514944,p.C42Y|uc002gin.3,p.C42Y	retained_intron, protein_coding, processed_transcript	uc002gin.3	nonsynonymous SNV	exon4	c.G125A	p.C42Y	NVLYSPALNKMFCQLAKTCPVQLWV	NVLYSPALNKMFYQLAKTCPVQLWV	9.0	10.0	-	-	4316_17:7578526-7578526 C>T_NVLYSPALNKMFYQLAKTCPVQLWV
17:7578526-7578526 C>T	1.0	4316	COLON	-	-	ID=COSM99600,COSM2744946,COSM99599,COSM3691869,COSM10801,COSM99601,COSM99598;OCCURENCE=2(haematopoietic_and_lymphoid_tissue),1(thyroid),4(lung),3(upper_aerodigestive_tract),5(oesophagus),2(central_nervous_system),1(stomach),4(urinary_tract),2(liver),1(pancreas),1(prostate),10(large_intestine),1(skin),9(breast),1(autonomic_ganglia),8(ovary)	1	TP53	ENST00000269305,p.C135Y|NM_000546,p.C135Y|uc002gij.3,p.C96Y|ENST00000455263,p.C135Y|NM_001276695,p.C96Y|ENST00000420246,p.C135Y|NM_001276761,p.C96Y|uc002gig.1,p.C135Y|ENST00000445888,p.C135Y|NM_001126112,p.C135Y|NM_001126113,p.C135Y|NM_001276760,p.C96Y|uc031qyq.1,p.C96Y|ENST00000508793,p.C135Y|ENST00000413465,p.C135Y|NM_001126118,p.C96Y|uc010vug.3,p.C96Y|uc002gih.3,p.C135Y|ENST00000359597,p.C135Y|NM_001276696,p.C96Y|NM_001126114,p.C135Y	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon4	c.G287A	p.C96Y	TCTYSPALNKMFCQLAKTCPVQLWV	TCTYSPALNKMFYQLAKTCPVQLWV	9.0	10.0	-	-	4316_17:7578526-7578526 C>T_TCTYSPALNKMFYQLAKTCPVQLWV
14:92441615-92441615 G>T	1.0	4316	COLON	-	-	-	1	TRIP11	uc010auf.2,p.N1522K|uc001xzy.3,p.N1786K|ENST00000267622,p.N1786K|NM_004239,p.N1786K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010auf.2	nonsynonymous SNV	exon12	c.C4566A	p.N1522K	SSEGKVDKVLMRNLFIGHFHTPKNQ	SSEGKVDKVLMRKLFIGHFHTPKNQ	9.0	4.0	-	-	4316_14:92441615-92441615 G>T_SSEGKVDKVLMRKLFIGHFHTPKNQ
15:41826930-41826930 G>A	1.0	4316	COLON	-	-	-	-	RPAP1	ENST00000562303,p.R249W|ENST00000561603,p.R249W|NM_015540,p.R249W|ENST00000304330,p.R249W|uc001zod.3,p.R249W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zod.3	nonsynonymous SNV	exon6	c.C745T	p.R249W	AMAPEEILQEQQRLLAQLDPSLVAF	AMAPEEILQEQQWLLAQLDPSLVAF	7.0	4.0	unscreened	-	4316_15:41826930-41826930 G>A_AMAPEEILQEQQWLLAQLDPSLVAF
3:49349908-49349908 A>-	1.0	4316	COLON	-	-	-	-	USP4	NM_001251877,p.F278fs|ENST00000416417,p.F278fs|uc021wxv.1,p.F278fs	retained_intron, protein_coding, processed_transcript	uc021wxv.1	frameshift deletion	exon7	c.834delT	p.F278fs	RVAPSHLANFFFFEMESHSVTKLEC	RVAPSHLANFFFLRWSLTLSPSWSAVVQSRLTPGFK	9.0	1.0	unscreened	-	4316_3:49349908-49349908 A>-_RVAPSHLANFFFLRWSLTLSPSWSAVVQSRLTPGFK
19:13189538-13189542 GAGTC>-	1.0	4316	COLON	-	-	-	-	NFIX	ENST00000587260,p.G355fs|NM_001271044,p.G348fs|NM_002501,p.G356fs|ENST00000397661,p.G356fs|uc002mwd.3,p.G356fs|uc002mwg.2,p.G355fs|uc002mwe.4,p.G348fs|ENST00000587760,p.G348fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mwg.2	frameshift deletion	exon6	c.1064_1068del	p.G355fs	MAFTHHPLPVLAGVRPGSPRATASA	MAFTHHPLPVLAETREPPGHSISPALPLHVHHPAVEPVFHAPDHPLPPPPRAGLTEGVCAVCVLGWLGPGHRTAFATTGASSANRFVSIGPRDGNFL	10.0	7.0	unscreened	-	4316_19:13189538-13189542 GAGTC>-_MAFTHHPLPVLAETREPPGHSISPALPLHVHHPAVEPVFHAPDHPLPPPPRAGLTEGVCAVCVLGWLGPGHRTAFATTGASSANRFVSIGPRDGNFL
6:110944056-110944056 C>A	1.0	4316	COLON	-	-	-	-	CDK19	NM_001300964,p.Q271H|ENST00000368911,p.Q331H|uc003pui.1,p.Q271H|uc031spj.1,p.Q287H|NM_001300963,p.Q271H|uc011eax.1,p.Q207H|ENST00000323817,p.Q271H|uc003puh.1,p.Q331H|NM_015076,p.Q331H|ENST00000413605,p.Q207H|NM_001300960,p.Q287H	protein_coding, processed_transcript, nonsense_mediated_decay	uc031spj.1	nonsynonymous SNV	exon9	c.G861T	p.Q287H	DPTKRITSEQALQDPYFQEDPLPTL	DPTKRITSEQALHDPYFQEDPLPTL	6.0	2.0	unscreened	-	4316_6:110944056-110944056 C>A_DPTKRITSEQALHDPYFQEDPLPTL
19:13189538-13189542 GAGTC>-	1.0	4316	COLON	-	-	-	-	NFIX	uc010xmx.2,p.G364fs|ENST00000588228,p.G309fs|ENST00000585575,p.G348fs|NM_001271043,p.G364fs|ENST00000592199,p.G356fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc010xmx.2	frameshift deletion	exon7	c.1091_1095del	p.G364fs	MAFTHHPLPVLAGVRPGSPRATASA	MAFTHHPLPVLAETREPPGHSISPALPLHVHHPAVEPVFHAPDHPLPPPPRAGLTEGVCAVCVLGWLGPGHRTAQR	10.0	7.0	-	-	4316_19:13189538-13189542 GAGTC>-_MAFTHHPLPVLAETREPPGHSISPALPLHVHHPAVEPVFHAPDHPLPPPPRAGLTEGVCAVCVLGWLGPGHRTAQR
17:65955939-65955939 A>G	1.0	4316	COLON	-	-	-	-	BPTF	ENST00000306378,p.K2737E|uc002jgg.3,p.K394E|NM_182641,p.K2737E|ENST00000424123,p.K2581E|ENST00000321892,p.K2863E|ENST00000335221,p.K2720E|NM_004459,p.K2720E|uc021uca.1,p.K537E|uc002jgh.3,p.K196E|uc002jge.3,p.K2720E|uc002jgf.3,p.K2737E	retained_intron, protein_coding, processed_transcript	uc021uca.1	nonsynonymous SNV	exon5	c.A1609G	p.K537E	KKKMISTTSKETKKDTKLYCICKTP	KKKMISTTSKETEKDTKLYCICKTP	9.0	3.0	unscreened	-	4316_17:65955939-65955939 A>G_KKKMISTTSKETEKDTKLYCICKTP
2:64683534-64683534 G>A	1.0	4316	COLON	-	-	-	-	LGALSL	uc002scy.4,p.G104R|NM_014181,p.G104R	protein_coding, processed_transcript, nonsense_mediated_decay	uc002scy.4	nonsynonymous SNV	exon4	c.G310A	p.G104R	TDRQLLRNSCISGERGEEQSAIPYF	TDRQLLRNSCISRERGEEQSAIPYF	8.0	7.0	-	-	4316_2:64683534-64683534 G>A_TDRQLLRNSCISRERGEEQSAIPYF
11:121485685-121485685 G>A	1.0	4316	COLON	-	-	ID=COSM202566;OCCURENCE=2(endometrium),1(large_intestine)	-	SORL1	ENST00000534286,p.R752H|uc010rzp.1,p.R688H|NM_003105,p.R1842H|ENST00000527934,p.R457H|ENST00000525532,p.R786H|uc010rzq.1,p.R457H|ENST00000532694,p.R688H|ENST00000260197,p.R1842H|uc001pxx.3,p.R1842H	retained_intron, protein_coding, processed_transcript	uc010rzq.1	nonsynonymous SNV	exon12	c.G1370A	p.R457H	PLAFEHVMTRGVRPPAPSLKAKAIN	PLAFEHVMTRGVHPPAPSLKAKAIN	10.0	7.0	-	-	4316_11:121485685-121485685 G>A_PLAFEHVMTRGVHPPAPSLKAKAIN
14:103871548-103871548 G>A	1.0	4316	COLON	-	-	-	-	MARK3	uc001yna.4,p.G63S|ENST00000303622,p.G63S|ENST00000553942,p.G63S|ENST00000561225,p.G51S|uc001ymw.4,p.G63S|ENST00000560417,p.G63S|uc010awp.3,p.G63S|ENST00000416682,p.G63S|ENST00000216288,p.G63S|NM_001128921,p.G63S|uc001ymy.4,p.G63S|ENST00000440884,p.G63S|NM_002376,p.G63S|ENST00000429436,p.G63S|ENST00000335102,p.G63S|uc001ymx.4,p.G63S|NM_001128918,p.G63S|uc001ymz.4,p.G63S|NM_001128920,p.G63S|NM_001128919,p.G63S	retained_intron, protein_coding, processed_transcript	uc010awp.3	nonsynonymous SNV	exon2	c.G187A	p.G63S	PHIGNYRLLKTIGKGNFAKVKLARH	PHIGNYRLLKTISKGNFAKVKLARH	10.0	3.0	-	-	4316_14:103871548-103871548 G>A_PHIGNYRLLKTISKGNFAKVKLARH
6:90383975-90383975 A>C	1.0	4316	COLON	-	-	-	-	MDN1	NM_014611,p.S4365R|uc003pnn.1,p.S4365R|ENST00000369393,p.S4365R|ENST00000428876,p.S4365R	protein_coding, processed_transcript, nonsense_mediated_decay	uc003pnn.1	nonsynonymous SNV	exon79	c.T13095G	p.S4365R	PSNLSYPSPIPGSQLPSGCRMRKQD	PSNLSYPSPIPGRQLPSGCRMRKQD	8.0	7.0	-	-	4316_6:90383975-90383975 A>C_PSNLSYPSPIPGRQLPSGCRMRKQD
19:50921117-50921117 C>G	1.0	4316	COLON	-	-	-	1	POLD1	ENST00000440232,p.F1079L|NM_001256849,p.F1079L|uc002psc.5,p.F1079L|NM_002691,p.F1079L|ENST00000599857,p.F1079L|ENST00000595904,p.F1105L|uc002psb.5,p.F1079L|uc010eny.4,p.F1105L	retained_intron, protein_coding, nonsense_mediated_decay	uc010eny.4	nonsynonymous SNV	exon26	c.C3315G	p.F1105L	EDVICTSRDCPIFYMRKKVRKDLED	EDVICTSRDCPILYMRKKVRKDLED	8.0	4.0	unscreened	-	4316_19:50921117-50921117 C>G_EDVICTSRDCPILYMRKKVRKDLED
12:31842039-31842039 C>A	1.0	4316	COLON	-	-	-	-	AMN1	ENST00000535408,p.G184V|uc001rko.4,p.G184V|ENST00000536761,p.G184V|NM_001278411,p.G184V|ENST00000281471,p.G202V|NM_001278412,p.G184V|uc010skc.2,p.G184V|NM_001113402,p.G202V|ENST00000537562,p.G184V|uc001rkq.4,p.G202V	protein_coding, processed_transcript	uc010skc.2	nonsynonymous SNV	exon8	c.G551T	p.G184V	GPCAKKLEEIHMGHCVNLTDGAVEA	GPCAKKLEEIHMVHCVNLTDGAVEA	6.0	9.0	-	-	4316_12:31842039-31842039 C>A_GPCAKKLEEIHMVHCVNLTDGAVEA
5:35871197-35871197 G>A	0.0	4316	COLON	-	-	-	1	IL7R	ENST00000514217,p.R140Q|uc003jjs.4,p.R140Q|ENST00000303115,p.R140Q|NM_002185,p.R140Q|uc011coo.3,p.R140Q|ENST00000343305,p.R140Q|ENST00000506850,p.R140Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011coo.3	nonsynonymous SNV	exon4	c.G419A	p.R140Q	KPEAPFDLSVVYREGANDFVVTFNT	KPEAPFDLSVVYQEGANDFVVTFNT	6.0	6.0	unscreened	-	4316_5:35871197-35871197 G>A_KPEAPFDLSVVYQEGANDFVVTFNT
2:120005499-120005499 A>C	0.0	4316	COLON	-	-	-	-	STEAP3	ENST00000393106,p.K246T|ENST00000393110,p.K256T|NM_182915,p.K256T|ENST00000425223,p.K246T|NM_018234,p.K246T|ENST00000409811,p.K246T|ENST00000354888,p.K246T|uc002tlp.3,p.K246T|ENST00000393108,p.K246T|NM_001008410,p.K246T|ENST00000393107,p.K246T|ENST00000450943,p.K246T|uc010fle.3,p.K246T|uc002tlq.3,p.K256T|uc002tlr.3,p.K246T	protein_coding	uc010fle.3	nonsynonymous SNV	exon3	c.A737C	p.K246T	DVLQPYVQESQNKFFKLPVSVVNTT	DVLQPYVQESQNTFFKLPVSVVNTT	8.0	1.0	-	-	4316_2:120005499-120005499 A>C_DVLQPYVQESQNTFFKLPVSVVNTT
5:67589599-67589604 TCAGTT>-	1.0	4316	COLON	-	-	-	1	PIK3R1	NM_181504,p.184_186del|uc003jvc.3,p.154_156del|ENST00000320694,p.154_156del|NM_001242466,p.91_93del|ENST00000519025,p.127_129del|uc021xzn.1,p.91_93del|ENST00000521657,p.454_456del|ENST00000274335,p.454_456del|uc003jve.3,p.133_135del|uc003jvd.3,p.184_186del|NM_181523,p.454_456del|uc003jva.3,p.454_456del|NM_181524,p.154_156del|ENST00000336483,p.184_186del|ENST00000521381,p.454_456del|uc011crb.2,p.124_126del|ENST00000396611,p.454_456del|ENST00000523872,p.91_93del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xzn.1	nonframeshift deletion	exon4	c.273_278del	p.91_93del	IEAVGKKLHEYNTQFQEKSREYDRL	IEAVGKKLHEYNTQEKSREYDRLYE	9.0	6.0	-	-	4316_5:67589599-67589604 TCAGTT>-_IEAVGKKLHEYNTQEKSREYDRLYE
12:25398284-25398284 C>A	1.0	4316	COLON	-	-	ID=COSM1140133,COSM520;OCCURENCE=24(skin),10(breast),24(small_intestine),17(urinary_tract),2(genital_tract),2(kidney),1(eye),5(liver),1402(pancreas),39(prostate),110(biliary_tract),4060(large_intestine),1(autonomic_ganglia),245(ovary),4(soft_tissue),102(endometrium),13(thyroid),13(peritoneum),878(lung),6(testis),8(cervix),36(haematopoietic_and_lymphoid_tissue),2(pleura),9(gastrointestinal_tract_(site_indeterminate)),1(central_nervous_system),32(stomach),2(thymus),3(upper_aerodigestive_tract),4(oesophagus)	1	KRAS	NM_004985,p.G12V|uc001rgp.1,p.G12V|ENST00000311936,p.G12V|ENST00000556131,p.G12V|NM_033360,p.G12V|ENST00000557334,p.G12V|ENST00000256078,p.G12V|uc001rgq.1,p.G12V	protein_coding	uc001rgq.1	nonsynonymous SNV	exon2	c.G35T	p.G12V	MTEYKLVVVGAGGVGKSALTIQLI	MTEYKLVVVGAVGVGKSALTIQLI	6.0	8.0	-	-	4316_12:25398284-25398284 C>A_MTEYKLVVVGAVGVGKSALTIQLI
19:33892669-33892669 C>T	1.0	4316	COLON	-	-	-	-	PEPD	ENST00000397032,p.V268M|uc010xrs.2,p.V245M|uc002nur.4,p.V309M|ENST00000436370,p.V245M|uc010xrr.2,p.V268M|NM_001166056,p.V268M|NM_000285,p.V309M|NM_001166057,p.V245M|ENST00000244137,p.V309M	retained_intron, protein_coding, lincRNA	uc010xrs.2	nonsynonymous SNV	exon10	c.G733A	p.V245M	KFTADQKAVYEAVLRSSRAVMGAMK	KFTADQKAVYEAMLRSSRAVMGAMK	10.0	10.0	-	-	4316_19:33892669-33892669 C>T_KFTADQKAVYEAMLRSSRAVMGAMK
6:160412230-160412230 C>G	1.0	4316	COLON	-	-	-	-	IGF2R	ENST00000356956,p.A55G|uc003qta.3,p.A55G|NM_000876,p.A55G	protein_coding, processed_transcript	uc003qta.3	nonsynonymous SNV	exon2	c.C164G	p.A55G	APFPELCSYTWEAVDTKNNVLYKIN	APFPELCSYTWEGVDTKNNVLYKIN	9.0	4.0	unscreened	-	4316_6:160412230-160412230 C>G_APFPELCSYTWEGVDTKNNVLYKIN
19:44681697-44681697 G>A	0.0	4316	COLON	-	-	-	-	ZNF226	uc002oys.3,p.G761D|ENST00000590089,p.G761D|NM_001032372,p.G761D|ENST00000337433,p.G761D|uc002oyr.3,p.G644D|uc002oyq.3,p.G644D|uc002oyp.3,p.G761D|NM_001032373,p.G761D|ENST00000454662,p.G761D|uc002oyt.3,p.G761D	retained_intron, protein_coding	uc002oyt.3	nonsynonymous SNV	exon7	c.G2282A	p.G761D	HTGEKPYKCEICGKSFSWRSNLTVH	HTGEKPYKCEICDKSFSWRSNLTVH	9.0	4.0	unscreened	-	4316_19:44681697-44681697 G>A_HTGEKPYKCEICDKSFSWRSNLTVH
1:159900545-159900545 C>T	1.0	4316	COLON	-	-	-	-	IGSF9	uc001fuq.2,p.V568M|NM_001135050,p.V584M|uc001fur.2,p.V584M|ENST00000361509,p.V568M|NM_020789,p.V568M|ENST00000368094,p.V584M	protein_coding, processed_transcript	uc001fur.2	nonsynonymous SNV	exon14	c.G1750A	p.V584M	PGLQPHTQYQFSVLAQNKLGSGPFS	PGLQPHTQYQFSMLAQNKLGSGPFS	6.0	10.0	-	-	4316_1:159900545-159900545 C>T_PGLQPHTQYQFSMLAQNKLGSGPFS
1:160247932-160247932 A>G	1.0	4316	COLON	-	-	-	-	PEX19	ENST00000556710,p.L142P|uc010pjc.1,p.L142P	protein_coding	uc010pjc.1	nonsynonymous SNV	exon6	c.T425C	p.L142P	FFCGSQWVYGPWLTYVGWLQQTSFK	FFCGSQWVYGPWPTYVGWLQQTSFK	7.0	7.0	-	-	4316_1:160247932-160247932 A>G_FFCGSQWVYGPWPTYVGWLQQTSFK
1:160247932-160247932 A>G	1.0	4316	COLON	-	-	-	-	PEX19	ENST00000485079,p.L159P	protein_coding	ENST00000485079	nonsynonymous SNV	exon5	c.T476C	p.L159P	FFCGSQWVYGPWLTYVETGFTMLAW	FFCGSQWVYGPWPTYVETGFTMLAW	7.0	7.0	-	-	4316_1:160247932-160247932 A>G_FFCGSQWVYGPWPTYVETGFTMLAW
10:124402790-124402790 G>A	1.0	4316	COLON	0.0009	-	-	-	DMBT1	uc001lgm.1,p.R1745H|NM_004406,p.R1745H|ENST00000368956,p.R1745H|uc001lgk.1,p.R2373H|NM_007329,p.R2373H|ENST00000338354,p.R2373H|uc009xzz.1,p.R2372H|ENST00000368955,p.R2363H|ENST00000344338,p.R2363H|ENST00000359586,p.R1093H|uc009yac.1,p.R667H|uc001lgl.1,p.R2363H|uc021qag.1,p.R2363H|NM_017579,p.R2363H|uc021qaf.1,p.R2373H|uc021qah.1,p.R1745H|ENST00000368909,p.R2373H|uc009yab.1,p.R1076H|uc010qtx.1,p.R1093H|ENST00000330163,p.R1745H	protein_coding	uc021qah.1	nonsynonymous SNV	exon40	c.G5234A	p.R1745H	KMVVCRAYDPSSRCYRGCVLRSKRD	KMVVCRAYDPSSHCYRGCVLRSKRD	10.0	9.0	CD8	-	4316_10:124402790-124402790 G>A_KMVVCRAYDPSSHCYRGCVLRSKRD
11:62366007-62366007 C>T	0.0	4316	COLON	-	-	-	-	MTA2	NM_004739,p.A99T|uc001ntq.2,p.A99T|ENST00000278823,p.A99T	retained_intron, protein_coding	uc001ntq.2	nonsynonymous SNV	exon4	c.G295A	p.A99T	ELFLSRQFESLPATHIRGKCSVTLL	ELFLSRQFESLPTTHIRGKCSVTLL	9.0	1.0	-	-	4316_11:62366007-62366007 C>T_ELFLSRQFESLPTTHIRGKCSVTLL
X:53644083-53644084 CC>-	0.0	4316	COLON	-	-	-	-	HUWE1	ENST00000342160,p.G602fs|uc004dsp.4,p.G602fs|NM_031407,p.G602fs|ENST00000262854,p.G602fs|ENST00000218328,p.G602fs	protein_coding, processed_transcript	uc004dsp.4	frameshift deletion	exon21	c.1804_1805del	p.G602fs	LIKDVPATREVLGSLPNVFSALCLN	LIKDVPATREVLLPPKCIQCTLFECPRSSVFCSVSAF	10.0	6.0	-	-	4316_X:53644083-53644084 CC>-_LIKDVPATREVLLPPKCIQCTLFECPRSSVFCSVSAF
X:63411274-63411274 ->CGGGC	1.0	4316	COLON	-	-	-	1	AMER1	uc004dvo.3,p.R631fs|ENST00000403336,p.R631fs|ENST00000374869,p.R631fs|ENST00000330258,p.R631fs|NM_152424,p.R631fs|uc022byb.1,p.R631fs	protein_coding	uc022byb.1	frameshift insertion	exon1	c.1892_1893insGCCCG	p.R631fs	HGREARTREAQAREVRCRETQVRET	HGREARTREAQARPERFVVERLKSERPRPGRRSPS	6.0	9.0	-	-	4316_X:63411274-63411274 ->CGGGC_HGREARTREAQARPERFVVERLKSERPRPGRRSPS
17:79864414-79864414 G>A	0.0	4316	COLON	-	-	-	-	PCYT2	ENST00000570391,p.H197Y|ENST00000576343,p.H175Y|uc002kcf.2,p.H229Y|ENST00000573636,p.H214Y|NM_001256434,p.H188Y|ENST00000331285,p.H151Y|ENST00000538936,p.H229Y|NM_001256433,p.H175Y|NM_001282204,p.H197Y|NM_001184917,p.H247Y|uc010wvb.2,p.H197Y|NM_001256435,p.H151Y|NM_002861,p.H229Y|ENST00000571105,p.H229Y|uc002kci.2,p.H188Y|uc002kch.2,p.H247Y|NM_001282203,p.H151Y|ENST00000538721,p.H247Y|uc010wvc.2,p.H151Y|ENST00000570388,p.H151Y|uc002kce.2,p.H151Y|uc031rex.1,p.H175Y	retained_intron, protein_coding, nonsense_mediated_decay	uc031rex.1	nonsynonymous SNV	exon7	c.C523T	p.H175Y	YVAGAFDLFHIGHVDFLEKVHRLAE	YVAGAFDLFHIGYVDFLEKVHRLAE	7.0	1.0	-	-	4316_17:79864414-79864414 G>A_YVAGAFDLFHIGYVDFLEKVHRLAE
6:33374045-33374045 C>T	1.0	4316	COLON	-	-	-	-	KIFC1	ENST00000428849,p.R537C|uc003oef.4,p.R537C|NM_002263,p.R537C|uc011drf.2,p.R529C	retained_intron, protein_coding, processed_transcript	uc011drf.2	nonsynonymous SNV	exon8	c.C1585T	p.R529C	AVARTAQNERSSRSHSVFQLQISGE	AVARTAQNERSSCSHSVFQLQISGE	8.0	7.0	-	-	4316_6:33374045-33374045 C>T_AVARTAQNERSSCSHSVFQLQISGE
1:35578873-35578873 A>T	0.0	4316	COLON	-	-	-	-	ZMYM1	ENST00000359858,p.Q481L|NM_024772,p.Q481L|uc009vut.3,p.Q406L|uc001byo.3,p.Q121L|uc010ohu.2,p.Q462L|NM_001289089,p.Q462L|uc001bym.3,p.Q481L|NM_001289088,p.Q481L|ENST00000373330,p.Q481L|NM_001289091,p.Q121L|uc001byn.3,p.Q481L|NM_001289090,p.Q481L	protein_coding, processed_transcript	uc010ohu.2	nonsynonymous SNV	exon10	c.A1385T	p.Q462L	NSKKDVAFCYSCQLFCQKYFSCGRE	NSKKDVAFCYSCLLFCQKYFSCGRE	6.0	2.0	-	-	4316_1:35578873-35578873 A>T_NSKKDVAFCYSCLLFCQKYFSCGRE
1:156911739-156911739 C>G	1.0	4316	COLON	-	-	-	-	ARHGEF11	uc010phu.2,p.R499S|NM_014784,p.R1083S|uc001fqn.3,p.R1123S|NM_198236,p.R1123S|ENST00000368194,p.R1123S|uc001fqo.3,p.R1083S|ENST00000315174,p.R499S|ENST00000361409,p.R1083S	protein_coding, processed_transcript	uc010phu.2	nonsynonymous SNV	exon13	c.G1497C	p.R499S	MELLEEAVRNATRHPGAAPMPVHPP	MELLEEAVRNATSHPGAAPMPVHPP	8.0	9.0	-	-	4316_1:156911739-156911739 C>G_MELLEEAVRNATSHPGAAPMPVHPP
5:140201539-140201539 C>T	0.0	4316	COLON	-	-	-	-	PCDHA5	ENST00000529859,p.P60L|NM_031501,p.P60L|ENST00000378126,p.P60L|uc003lhj.1,p.P60L|NM_018908,p.P60L|uc003lhl.2,p.P60L|uc003lhk.1,p.P60L|ENST00000529619,p.P60L	protein_coding	uc003lhl.2	nonsynonymous SNV	exon1	c.C179T	p.P60L	AQDLGLELAELVPRLFRVASKGRGD	AQDLGLELAELVLRLFRVASKGRGD	5.0	9.0	-	-	4316_5:140201539-140201539 C>T_AQDLGLELAELVLRLFRVASKGRGD
18:2909775-2909776 AA>-	1.0	4316	COLON	-	-	-	-	EMILIN2	NM_032048,p.K928fs|ENST00000254528,p.K928fs|uc002kln.3,p.K928fs	retained_intron, protein_coding, processed_transcript	uc002kln.3	frameshift deletion	exon7	c.2782_2783del	p.K928fs	PFPSDGGVVLFNKVLVNDGDVYNPS	PFPSDGGVVLFNSAGERRGCLQPQHRGLHGSL	5.0	3.0	unscreened	-	4316_18:2909775-2909776 AA>-_PFPSDGGVVLFNSAGERRGCLQPQHRGLHGSL
14:67769280-67769280 G>C	1.0	4316	COLON	-	-	-	-	MPP5	ENST00000261681,p.D319H|uc001xjd.4,p.D285H|NM_001256550,p.D285H|ENST00000555925,p.D285H|uc001xjc.4,p.D319H|NM_022474,p.D319H	retained_intron, protein_coding, processed_transcript	uc001xjd.4	nonsynonymous SNV	exon7	c.G853C	p.D285H	IEIRGKDVNEVFDLLSDMHGTLTFV	IEIRGKDVNEVFHLLSDMHGTLTFV	5.0	3.0	unscreened	-	4316_14:67769280-67769280 G>C_IEIRGKDVNEVFHLLSDMHGTLTFV
12:11214097-11214097 G>C	0.0	4316	COLON	-	-	-	-	TAS2R46	ENST00000533467,p.A266G|uc001qzp.1,p.A266G|NM_176887,p.A266G	protein_coding	uc001qzp.1	nonsynonymous SNV	exon1	c.C797G	p.A266G	SLENKPVFMFCEAIAFSYPSTHPFI	SLENKPVFMFCEGIAFSYPSTHPFI	3.0	10.0	-	-	4316_12:11214097-11214097 G>C_SLENKPVFMFCEGIAFSYPSTHPFI
12:31600513-31600513 C>T	1.0	4316	COLON	-	-	ID=COSM185361;OCCURENCE=1(large_intestine)	-	DENND5B	ENST00000354285,p.R629Q|ENST00000306833,p.R642Q|NM_144973,p.R607Q|uc001rkh.1,p.R642Q|uc001rkj.3,p.R629Q|ENST00000389082,p.R607Q|ENST00000536562,p.R642Q|uc001rki.1,p.R607Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rkj.3	nonsynonymous SNV	exon7	c.G1886A	p.R629Q	KIRLYNVRAPTLRTSIYQKCSTLKE	KIRLYNVRAPTLQTSIYQKCSTLKE	5.0	9.0	-	-	4316_12:31600513-31600513 C>T_KIRLYNVRAPTLQTSIYQKCSTLKE
8:97847356-97847356 G>T	1.0	4316	COLON	-	-	-	-	CPQ	ENST00000220763,p.V197L|NM_016134,p.V197L|uc010mbe.2,p.V197L|uc003yhw.3,p.V197L	protein_coding, processed_transcript	uc010mbe.2	nonsynonymous SNV	exon2	c.G589T	p.V197L	QYRTQGAVEAAKVGALASLIRSVAS	QYRTQGAVEAAKLGALASLIRSVAS	5.0	10.0	-	-	4316_8:97847356-97847356 G>T_QYRTQGAVEAAKLGALASLIRSVAS
5:36114569-36114569 ->AT	0.0	4316	COLON	-	-	-	-	LMBRD2	ENST00000296603,p.Y533fs|NM_001007527,p.Y533fs|uc003jkb.1,p.Y533fs	retained_intron, protein_coding	uc003jkb.1	frameshift insertion	exon13	c.1596_1597insAT	p.Y533fs	VLSFIADGFYIYYPMLVVILCIATY	VLSFIADGFYIYIILCWW	7.0	5.0	-	-	4316_5:36114569-36114569 ->AT_VLSFIADGFYIYIILCWW
19:49351277-49351292 CTGCTGAGCAGACACT>-	1.0	4316	COLON	-	-	-	-	PLEKHA4	ENST00000263265,p.R477fs|uc010eml.3,p.R452fs|NM_020904,p.R477fs|ENST00000355496,p.R452fs|NM_001161354,p.R452fs|uc002pkx.3,p.R477fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010eml.3	frameshift deletion	exon13	c.1356_1371del	p.R452fs	LEYLLHLGSPQDRVSAQQQLWMVED	LEYLLHLGSPQDSSCGWWKTRWQVWVAPRNRPHTLSLTPHLPCSRARSPQRGRACQSPWN	5.0	3.0	unscreened	-	4316_19:49351277-49351292 CTGCTGAGCAGACACT>-_LEYLLHLGSPQDSSCGWWKTRWQVWVAPRNRPHTLSLTPHLPCSRARSPQRGRACQSPWN
9:139685838-139685838 C>A	1.0	4316	COLON	-	-	-	-	TMEM141	uc004cje.4,p.L6M|uc011meg.1,p.L6M|ENST00000290079,p.L6M|NM_032928,p.L6M	retained_intron, protein_coding, processed_transcript	uc011meg.1	nonsynonymous SNV	exon1	c.C16A	p.L6M	MVNLGLSRVDDAVAAKHP	MVNLGMSRVDDAVAAKHP	10.0	1.0	-	-	4316_9:139685838-139685838 C>A_MVNLGMSRVDDAVAAKHP
10:75675077-75675077 C>A	0.0	4316	COLON	-	-	-	-	PLAU	uc010qkw.2,p.Q330K|uc001jwc.3,p.Q347K|NM_001145031,p.Q330K|uc001jwa.3,p.Q347K|NM_002658,p.Q347K|ENST00000372764,p.Q347K|ENST00000372762,p.Q311K|uc009xrq.1,p.Q311K|uc010qkx.2,p.Q261K|ENST00000446342,p.Q330K	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qkx.2	nonsynonymous SNV	exon9	c.C781A	p.Q261K	TVVKLISHRECQQPHYYGSEVTTKM	TVVKLISHRECQKPHYYGSEVTTKM	6.0	2.0	unscreened	-	4316_10:75675077-75675077 C>A_TVVKLISHRECQKPHYYGSEVTTKM
19:52819135-52819135 G>T	1.0	4316	COLON	-	-	-	-	ZNF480	uc010ydl.2,p.R83M|ENST00000468240,p.R83M|NM_144684,p.R83M|ENST00000598016,p.R83M|ENST00000595962,p.R83M	protein_coding, nonsense_mediated_decay	uc010ydl.2	nonsynonymous SNV	exon4	c.G248T	p.R83M	PDLNINSMLEQRREPWSGESEVKIA	PDLNINSMLEQRMEPWSGESEVKIA	10.0	5.0	-	-	4316_19:52819135-52819135 G>T_PDLNINSMLEQRMEPWSGESEVKIA
11:107309823-107309823 A>C	1.0	4316	COLON	-	-	-	-	CWF19L2	uc010rvp.2,p.I219M|ENST00000532251,p.I100M|ENST00000433523,p.I219M|ENST00000282251,p.I219M|NM_152434,p.I219M|ENST00000431778,p.I100M	retained_intron, protein_coding, nonsense_mediated_decay	uc010rvp.2	nonsynonymous SNV	exon6	c.T657G	p.I219M	TGLPPEDCSVSSITKVSVVEDGGLS	TGLPPEDCSVSSMTKVSVVEDGGLS	7.0	9.0	-	-	4316_11:107309823-107309823 A>C_TGLPPEDCSVSSMTKVSVVEDGGLS
X:154009994-154009994 A>T	0.0	4316	COLON	-	-	-	-	MPP1	ENST00000413259,p.S314T|NM_001166461,p.S324T|NM_001166462,p.S314T|ENST00000393531,p.S324T|uc011mzw.2,p.S327T|uc010nvg.2,p.S324T|uc004fmp.2,p.S344T|NM_001166460,p.S327T|NM_002436,p.S344T|uc011mzv.2,p.S314T|ENST00000369534,p.S344T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011mzw.2	nonsynonymous SNV	exon10	c.T979A	p.S327T	HFISTEEMTRNISANEFLEFGSYQG	HFISTEEMTRNITANEFLEFGSYQG	5.0	7.0	-	-	4316_X:154009994-154009994 A>T_HFISTEEMTRNITANEFLEFGSYQG
1:247921335-247921335 G>T	0.0	4316	COLON	-	-	-	-	OR1C1	ENST00000408896,p.A125E|NM_012353,p.A125E|uc010pza.2,p.A125E	protein_coding	uc010pza.2	nonsynonymous SNV	exon1	c.C374A	p.A125E	LLLCVMAYDRYVAICHPLHYTARMN	LLLCVMAYDRYVEICHPLHYTARMN	1.0	8.0	-	-	4316_1:247921335-247921335 G>T_LLLCVMAYDRYVEICHPLHYTARMN
14:94545461-94545461 G>C	1.0	4316	COLON	-	-	-	-	DDX24	NM_020414,p.L210V|uc001ycj.3,p.L210V|uc010twq.2,p.L167V|ENST00000555054,p.L167V|ENST00000330836,p.L210V	retained_intron, protein_coding, processed_transcript	uc010twq.2	nonsynonymous SNV	exon2	c.C499G	p.L167V	FVPRPVLRALSFLGFSAPTPIQALT	FVPRPVLRALSFVGFSAPTPIQALT	8.0	6.0	-	-	4316_14:94545461-94545461 G>C_FVPRPVLRALSFVGFSAPTPIQALT
10:7866335-7866335 G>A	0.0	4316	COLON	-	-	-	-	TAF3	NM_031923,p.G74E|uc010qbd.3,p.G74E|ENST00000344293,p.G74E	protein_coding	uc010qbd.3	nonsynonymous SNV	exon2	c.G221A	p.G74E	ILDDVGEAFQLMGVSLHELEDYIHN	ILDDVGEAFQLMEVSLHELEDYIHN	5.0	4.0	-	-	4316_10:7866335-7866335 G>A_ILDDVGEAFQLMEVSLHELEDYIHN
2:131258188-131258188 C>T	1.0	4316	COLON	-	rs4114328	ID=COSN215909;OCCURENCE=1(central_nervous_system)	-	POTEI	ENST00000451531,p.V280I|uc031rpa.1,p.V280I|NM_001277406,p.V280I	protein_coding	uc031rpa.1	nonsynonymous SNV	exon4	c.G838A	p.V280I	KNKHGLTPLLLGVHEQKQQVVKFLI	KNKHGLTPLLLGIHEQKQQVVKFLI	9.0	1.0	-	-	4316_2:131258188-131258188 C>T_KNKHGLTPLLLGIHEQKQQVVKFLI
5:140773119-140773119 T>G	1.0	4316	COLON	-	-	-	-	PCDHGA8	NM_014004,p.Y247D|NM_032088,p.Y247D|ENST00000398604,p.Y247D|uc003lkd.2,p.Y247D|uc003lkb.4,p.Y247D	protein_coding	uc003lkd.2	nonsynonymous SNV	exon1	c.T739G	p.Y247D	TNDNAPVFPHPIYRVKVLENMPPGT	TNDNAPVFPHPIDRVKVLENMPPGT	6.0	7.0	-	-	4316_5:140773119-140773119 T>G_TNDNAPVFPHPIDRVKVLENMPPGT
5:180486744-180486744 C>T	0.0	4316	COLON	-	-	-	-	BTNL9	uc003mmt.3,p.P497L|NM_152547,p.P497L|ENST00000376842,p.P498L|ENST00000327705,p.P497L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003mmt.3	nonsynonymous SNV	exon11	c.C1490T	p.P497L	YFRPRAHDGGEHPDPLTICPLPVRG	YFRPRAHDGGEHLDPLTICPLPVRG	6.0	1.0	-	-	4316_5:180486744-180486744 C>T_YFRPRAHDGGEHLDPLTICPLPVRG
19:42510819-42510819 C>A	0.0	4316	COLON	-	-	-	-	GRIK5	ENST00000301218,p.G672V|uc002osi.2,p.G244V|NM_001301030,p.G672V|ENST00000593562,p.G672V|uc002osj.2,p.G672V|ENST00000262895,p.G672V|NM_002088,p.G672V	retained_intron, protein_coding, nonsense_mediated_decay	uc002osj.2	nonsynonymous SNV	exon15	c.G2015T	p.G672V	DQTNIEYGTIHAGSTMTFFQNSRYQ	DQTNIEYGTIHAVSTMTFFQNSRYQ	3.0	9.0	unscreened	-	4316_19:42510819-42510819 C>A_DQTNIEYGTIHAVSTMTFFQNSRYQ
21:47704647-47704647 G>T	0.0	4316	COLON	-	-	-	-	MCM3AP	NM_003906,p.A185E|uc002zir.1,p.A185E|ENST00000397708,p.A185E|ENST00000291688,p.A185E	retained_intron, protein_coding, processed_transcript	uc002zir.1	nonsynonymous SNV	exon1	c.C554A	p.A185E	SGFFTFSHPISSAPGGLAPFSFPQV	SGFFTFSHPISSEPGGLAPFSFPQV	9.0	5.0	-	-	4316_21:47704647-47704647 G>T_SGFFTFSHPISSEPGGLAPFSFPQV
15:77907398-77907398 C>T	0.0	4316	COLON	0.0005	-	ID=COSM1563346;OCCURENCE=1(large_intestine)	-	LINGO1	NM_001301192,p.R278H|NM_001301199,p.R278H|uc002bcu.1,p.R278H|NM_001301189,p.R278H|NM_001301191,p.R278H|NM_001301187,p.R278H|NM_032808,p.R284H|NM_001301195,p.R278H|NM_001301194,p.R278H|ENST00000561030,p.R278H|NM_001301198,p.R278H|uc002bct.1,p.R284H|NM_001301197,p.R278H|ENST00000355300,p.R284H|NM_001301186,p.R278H|ENST00000557798,p.R289H|NM_001301200,p.R278H	protein_coding, processed_transcript	uc002bcu.1	nonsynonymous SNV	exon4	c.G833A	p.R278H	HCNLTAVPYLAVRHLVYLRFLNLSY	HCNLTAVPYLAVHHLVYLRFLNLSY	4.0	3.0	-	-	4316_15:77907398-77907398 C>T_HCNLTAVPYLAVHHLVYLRFLNLSY
18:34802036-34802036 A>G	1.0	4316	COLON	-	-	-	-	KIAA1328	ENST00000543923,p.K419R|ENST00000280020,p.K527R|ENST00000591619,p.K523R|NM_020776,p.K527R|uc002lac.1,p.K386R|uc002kzz.3,p.K527R	protein_coding, processed_transcript, nonsense_mediated_decay	uc002lac.1	nonsynonymous SNV	exon6	c.A1157G	p.K386R	DLVQSLSPNSAPKPQRYPSREAGAW	DLVQSLSPNSAPRPQRYPSREAGAW	6.0	10.0	-	-	4316_18:34802036-34802036 A>G_DLVQSLSPNSAPRPQRYPSREAGAW
X:77224847-77224847 C>T	0.0	4316	COLON	-	-	-	-	PGAM4	NM_001029891,p.G97S|uc004ecy.1,p.G97S|ENST00000458128,p.G97S	protein_coding	uc004ecy.1	nonsynonymous SNV	exon1	c.G289A	p.G97S	WRLNERHYGGLTGLNKAETAAKHGE	WRLNERHYGGLTSLNKAETAAKHGE	6.0	6.0	-	-	4316_X:77224847-77224847 C>T_WRLNERHYGGLTSLNKAETAAKHGE
3:65439012-65439012 A>C	1.0	4316	COLON	-	-	-	-	MAGI1	uc003dmn.3,p.H321Q|NM_004742,p.H321Q|ENST00000472257,p.H107Q|NM_001033057,p.H321Q|ENST00000402939,p.H321Q|uc003dmo.3,p.H321Q|uc003dmr.3,p.H322Q|ENST00000463103,p.H196Q|ENST00000497477,p.H321Q|NM_015520,p.H321Q|uc003dmm.3,p.H321Q|ENST00000479287,p.H83Q|ENST00000330909,p.H321Q|ENST00000483466,p.H321Q|uc021xac.1,p.H322Q|uc003dmp.3,p.H321Q|uc010hny.2,p.H206Q	retained_intron, protein_coding, processed_transcript	uc021xac.1	nonsynonymous SNV	exon6	c.T966G	p.H322Q	AYTENGEVYFIDHNTKTTSWLDPRC	AYTENGEVYFIDQNTKTTSWLDPRC	10.0	7.0	-	-	4316_3:65439012-65439012 A>C_AYTENGEVYFIDQNTKTTSWLDPRC
6:101109848-101109848 A>G	1.0	4316	COLON	-	-	-	-	ASCC3	uc003pqk.3,p.V846A|ENST00000369162,p.V846A|uc011eai.1,p.V748A|NM_006828,p.V846A	retained_intron, protein_coding, nonsense_mediated_decay	uc011eai.1	nonsynonymous SNV	exon15	c.T2243C	p.V748A	KRGSFVDLGILDVMQIFGRAGRPQF	KRGSFVDLGILDAMQIFGRAGRPQF	8.0	10.0	-	-	4316_6:101109848-101109848 A>G_KRGSFVDLGILDAMQIFGRAGRPQF
X:128709998-128709998 C>A	0.0	4316	COLON	-	-	-	-	OCRL	NM_000276,p.P613Q|ENST00000357121,p.P613Q|NM_001587,p.P613Q|uc004euq.3,p.P613Q|uc004eur.3,p.P613Q|ENST00000371113,p.P613Q	protein_coding, processed_transcript	uc004eur.3	nonsynonymous SNV	exon17	c.C1838A	p.P613Q	FIPKLNDSQYCKPWLRAEPFEGYLE	FIPKLNDSQYCKQWLRAEPFEGYLE	7.0	7.0	-	-	4316_X:128709998-128709998 C>A_FIPKLNDSQYCKQWLRAEPFEGYLE
3:196214328-196214328 G>A	1.0	4316	COLON	-	-	ID=COSM252783;OCCURENCE=1(ovary)	-	RNF168	NM_152617,p.A167V|uc003fwq.3,p.A167V|ENST00000318037,p.A167V	protein_coding, nonsense_mediated_decay	uc003fwq.3	nonsynonymous SNV	exon3	c.C500T	p.A167V	EEEKRQAEKRRRAMEEQLKSDEELA	EEEKRQAEKRRRVMEEQLKSDEELA	5.0	8.0	-	-	4316_3:196214328-196214328 G>A_EEEKRQAEKRRRVMEEQLKSDEELA
10:89692791-89692791 A>G	1.0	4316	COLON	-	-	ID=COSM5099;OCCURENCE=1(upper_aerodigestive_tract),2(endometrium),5(large_intestine)	1	PTEN	NM_000314,p.D92G|uc001kfb.3,p.D92G|ENST00000371953,p.D92G	protein_coding, processed_transcript	uc001kfb.3	nonsynonymous SNV	exon5	c.A275G	p.D92G	KFNCRVAQYPFEDHNPPQLELIKPF	KFNCRVAQYPFEGHNPPQLELIKPF	9.0	10.0	-	-	4316_10:89692791-89692791 A>G_KFNCRVAQYPFEGHNPPQLELIKPF
X:6451919-6451919 G>T	0.0	4316	COLON	-	-	-	-	VCX3A	uc004crs.3,p.P143Q|ENST00000398729,p.P123Q|NM_016379,p.P143Q|ENST00000381089,p.P143Q|uc022bsg.1,p.P143Q	protein_coding	uc022bsg.1	nonsynonymous SNV	exon2	c.C428A	p.P143Q	EEPLSQESEVEEPLSQESQVEEPLS	EEPLSQESEVEEQLSQESQVEEPLS	9.0	2.0	unscreened	-	4316_X:6451919-6451919 G>T_EEPLSQESEVEEQLSQESQVEEPLS
10:48236068-48236068 G>A	0.0	4316	COLON	-	-	-	-	AGAP9	uc009xnl.2,p.G279S|ENST00000456984,p.G279S|NM_001190810,p.G279S|ENST00000453919,p.G324S	protein_coding	uc009xnl.2	nonsynonymous SNV	exon8	c.G835A	p.G279S	KAPENHADTIGSGRAIPIKQGMLLK	KAPENHADTIGSSRAIPIKQGMLLK	10.0	1.0	-	-	4316_10:48236068-48236068 G>A_KAPENHADTIGSSRAIPIKQGMLLK
5:169509808-169509808 C>A	0.0	4316	COLON	-	-	-	-	DOCK2	uc003maf.3,p.S1813R|uc003mah.3,p.S369R|NM_004946,p.S1813R|ENST00000540750,p.S874R|uc010jjm.3,p.S1305R|ENST00000256935,p.S1813R|ENST00000520908,p.S1305R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jjm.3	nonsynonymous SNV	exon38	c.C3915A	p.S1305R	KKVNQFFKTMLASKSAEEGKQIPDS	KKVNQFFKTMLARKSAEEGKQIPDS	6.0	6.0	-	-	4316_5:169509808-169509808 C>A_KKVNQFFKTMLARKSAEEGKQIPDS
3:195508716-195508716 A>T	0.0	4316	COLON	-	-	-	2	MUC4	ENST00000477756,p.H3245Q|ENST00000478156,p.H3245Q|ENST00000480843,p.H3245Q|uc021xjp.1,p.H3245Q|ENST00000463781,p.H3245Q|ENST00000470451,p.H3245Q|ENST00000477086,p.H3245Q|ENST00000462323,p.H3245Q|ENST00000466475,p.H3245Q|ENST00000479406,p.H3245Q|NM_018406,p.H3245Q|ENST00000475231,p.H3245Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.T9735A	p.H3245Q	LPVTSPSSASTGHATSLPVTDTSSA	LPVTSPSSASTGQATSLPVTDTSSA	10.0	3.0	unscreened	-	4316_3:195508716-195508716 A>T_LPVTSPSSASTGQATSLPVTDTSSA
18:44738480-44738480 C>T	0.0	4316	COLON	-	-	-	-	SKOR2	uc031rif.1,p.A1010T|NM_001278063,p.A1010T	protein_coding	uc031rif.1	nonsynonymous SNV	exon7	c.G3028A	p.A1010T	YAASLIRKEKLGAHLSKS	YAASLIRKEKLGTHLSKS	7.0	6.0	-	-	4316_18:44738480-44738480 C>T_YAASLIRKEKLGTHLSKS
17:62019033-62019033 C>T	0.0	4316	COLON	-	-	-	-	SCN4A	NM_000334,p.G1537S|uc002jds.1,p.G1537S|ENST00000435607,p.G1537S|ENST00000578147,p.G1537S	retained_intron, protein_coding	uc002jds.1	nonsynonymous SNV	exon24	c.G4609A	p.G1537S	SIICLFEITTSAGWDGLLNPILNSG	SIICLFEITTSASWDGLLNPILNSG	1.0	5.0	-	-	4316_17:62019033-62019033 C>T_SIICLFEITTSASWDGLLNPILNSG
X:152612530-152612530 G>T	1.0	4316	COLON	-	-	-	-	ZNF275	uc011myn.2,p.W66C|ENST00000440091,p.W159C|uc022cht.1,p.W66C|uc004fhg.2,p.W129C|ENST00000370249,p.W76C|ENST00000421401,p.W129C|ENST00000370251,p.W129C|NM_001080485,p.W129C	protein_coding	uc022cht.1	nonsynonymous SNV	exon2	c.G198T	p.W66C	VQHQRVHSEEKGWECGDCGKVFRGV	VQHQRVHSEEKGCECGDCGKVFRGV	4.0	3.0	unscreened	-	4316_X:152612530-152612530 G>T_VQHQRVHSEEKGCECGDCGKVFRGV
17:40322247-40322247 C>T	0.0	4316	COLON	-	-	-	-	KCNH4	ENST00000607371,p.R423H|uc002hzb.2,p.R423H|NM_012285,p.R423H|ENST00000264661,p.R423H	protein_coding	uc002hzb.2	nonsynonymous SNV	exon8	c.G1268A	p.R423H	PYVNGSVGGPSRRSAYIAALYFTLS	PYVNGSVGGPSRHSAYIAALYFTLS	2.0	3.0	unscreened	-	4316_17:40322247-40322247 C>T_PYVNGSVGGPSRHSAYIAALYFTLS
4:123167927-123167927 G>T	0.0	4316	COLON	-	-	-	-	KIAA1109	ENST00000455637,p.L1758F|ENST00000264501,p.L1758F|ENST00000388738,p.L1758F|uc003iek.2,p.L377F|uc003ieh.3,p.L1758F|NM_015312,p.L1758F	retained_intron, protein_coding, processed_transcript	uc003iek.2	nonsynonymous SNV	exon6	c.G1131T	p.L377F	PSRSVTHVSLVALCFDRIATQVRMN	PSRSVTHVSLVAFCFDRIATQVRMN	8.0	2.0	-	-	4316_4:123167927-123167927 G>T_PSRSVTHVSLVAFCFDRIATQVRMN
3:134277025-134277025 T>G	0.0	4316	COLON	-	-	-	-	CEP63	uc003eqo.1,p.I503M|ENST00000337090,p.I503M|ENST00000606977,p.I503M|NM_025180,p.I503M|ENST00000513612,p.I503M	retained_intron, protein_coding, processed_transcript	uc003eqo.1	nonsynonymous SNV	exon14	c.T1509G	p.I503M	KEISLADLQENYIEALNKLVSENQQ	KEISLADLQENYMEALNKLVSENQQ	8.0	9.0	-	-	4316_3:134277025-134277025 T>G_KEISLADLQENYMEALNKLVSENQQ
6:33402934-33402934 G>A	0.0	4316	COLON	-	-	-	-	SYNGAP1	uc011dri.2,p.R172Q|ENST00000428982,p.R113Q|uc010juy.4,p.R172Q|NM_006772,p.R172Q|ENST00000449372,p.R172Q|ENST00000418600,p.R172Q|ENST00000293748,p.R172Q|uc003oeo.2,p.R172Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dri.2	nonsynonymous SNV	exon6	c.G515A	p.R172Q	LPRFRSADHDRARLMQSFKESHSHE	LPRFRSADHDRAQLMQSFKESHSHE	8.0	6.0	-	-	4316_6:33402934-33402934 G>A_LPRFRSADHDRAQLMQSFKESHSHE
11:62291235-62291235 A>C	1.0	4316	COLON	-	-	-	-	AHNAK	NM_001620,p.L3552V|ENST00000378024,p.L3552V|uc001ntl.3,p.L3552V	protein_coding, processed_transcript	uc001ntl.3	nonsynonymous SNV	exon5	c.T10654G	p.L3552V	APKISMPDIDLNLKGPKVKGDVDIS	APKISMPDIDLNVKGPKVKGDVDIS	10.0	4.0	-	-	4316_11:62291235-62291235 A>C_APKISMPDIDLNVKGPKVKGDVDIS
12:118651915-118651915 G>A	1.0	4316	COLON	-	-	-	-	TAOK3	ENST00000419821,p.A215V|uc001tww.3,p.A45V|uc001twy.4,p.A215V|uc001twx.3,p.A215V|NM_016281,p.A215V|ENST00000392533,p.A215V|ENST00000538601,p.A113V	retained_intron, protein_coding, processed_transcript	uc001twy.4	nonsynonymous SNV	exon10	c.C644T	p.A215V	DIWSLGITCIELAERKPPLFNMNAM	DIWSLGITCIELVERKPPLFNMNAM	6.0	6.0	-	-	4316_12:118651915-118651915 G>A_DIWSLGITCIELVERKPPLFNMNAM
12:52845570-52845570 C>T	1.0	4316	COLON	-	-	-	-	KRT6B	NM_005555,p.S98N|uc001sak.3,p.S98N|ENST00000252252,p.S98N	protein_coding	uc001sak.3	nonsynonymous SNV	exon1	c.G293A	p.S98N	RAGGSYGFGGAGSGFGFGGGAGIGF	RAGGSYGFGGAGNGFGFGGGAGIGF	9.0	5.0	unscreened	-	4316_12:52845570-52845570 C>T_RAGGSYGFGGAGNGFGFGGGAGIGF
4:114823899-114823899 G>A	1.0	4316	COLON	-	-	-	-	ARSJ	ENST00000541197,p.A444V|ENST00000315366,p.A444V|uc003ibq.1,p.A444V|uc010imu.1,p.A444V|uc010imv.1,p.A272V|NM_024590,p.A444V	protein_coding, processed_transcript, nonsense_mediated_decay	uc010imv.1	nonsynonymous SNV	exon4	c.C815T	p.A272V	GSWAAGYGIWNTAIQSAIRVQHWKL	GSWAAGYGIWNTVIQSAIRVQHWKL	5.0	10.0	-	-	4316_4:114823899-114823899 G>A_GSWAAGYGIWNTVIQSAIRVQHWKL
10:72468517-72468517 C>T	0.0	4316	COLON	-	-	ID=COSM920033;OCCURENCE=1(endometrium)	-	ADAMTS14	uc001jrg.3,p.L285F|ENST00000373208,p.L285F|ENST00000373207,p.L285F|NM_139155,p.L285F|uc001jrh.3,p.L285F|NM_080722,p.L285F	protein_coding	uc001jrh.3	nonsynonymous SNV	exon4	c.C853T	p.L285F	RFHGKEHVQNYVLTLMNIVDEIYHD	RFHGKEHVQNYVFTLMNIVDEIYHD	3.0	3.0	unscreened	-	4316_10:72468517-72468517 C>T_RFHGKEHVQNYVFTLMNIVDEIYHD
1:8384513-8384513 C>T	0.0	4316	COLON	-	-	-	-	SLC45A1	ENST00000289877,p.R42W|uc001apb.3,p.R42W|ENST00000471889,p.R42W|NM_001080397,p.R76W|ENST00000377479,p.R76W	retained_intron, protein_coding, processed_transcript	uc001apb.3	nonsynonymous SNV	exon1	c.C124T	p.R42W	GYSGSVTRHLSHRANNFKRHPKRRK	GYSGSVTRHLSHWANNFKRHPKRRK	1.0	8.0	-	-	4316_1:8384513-8384513 C>T_GYSGSVTRHLSHWANNFKRHPKRRK
12:117723970-117723970 ->CCCCA	0.0	4316	COLON	-	-	-	-	NOS1	uc001twn.2,p.A410fs|uc001twm.2,p.A410fs|NM_001204214,p.A74fs|NM_001204213,p.A74fs|ENST00000338101,p.A410fs|NM_000620,p.A410fs|uc021ren.1,p.A74fs|ENST00000317775,p.A410fs|NM_001204218,p.A410fs|uc021reo.1,p.A74fs	protein_coding, processed_transcript	uc021reo.1	frameshift insertion	exon5	c.220_221insTGGGG	p.A74fs	TYQLKDTELIYGAKHAWRNASRCVG	TYQLKDTELIYGVGPSTPGGMPRAVWAGSSGPSCRYSMPVTAPRPTGCSTTSVTMSSMPPTKGTSGLPSPYSPRGQTASTTSESGTPSSSATLATSSLTAPPWGTQPMCSSQRYAYSRAGNRLEAASMSCRSCFRPTAMTLSSSRFLQSWCWKFPSGTPSLSGSRTWG	1.0	1.0	-	-	4316_12:117723970-117723970 ->CCCCA_TYQLKDTELIYGVGPSTPGGMPRAVWAGSSGPSCRYSMPVTAPRPTGCSTTSVTMSSMPPTKGTSGLPSPYSPRGQTASTTSESGTPSSSATLATSSLTAPPWGTQPMCSSQRYAYSRAGNRLEAASMSCRSCFRPTAMTLSSSRFLQSWCWKFPSGTPSLSGSRTWG
8:39618778-39618778 T>G	0.0	4316	COLON	-	-	-	-	ADAM2	uc003xnl.4,p.E384D|uc003xnk.4,p.E491D|NM_001464,p.E510D|ENST00000379853,p.E384D|ENST00000521880,p.E510D|ENST00000265708,p.E510D|uc011lck.3,p.E510D|uc003xnj.4,p.E510D|ENST00000347580,p.E491D|NM_001278114,p.E510D|NM_001278113,p.E491D	protein_coding, processed_transcript	uc011lck.3	nonsynonymous SNV	exon15	c.A1530C	p.E510D	DTFGKEVEFGPSECYSHLNSKTDVS	DTFGKEVEFGPSDCYSHLNSKTDVS	1.0	8.0	-	-	4316_8:39618778-39618778 T>G_DTFGKEVEFGPSDCYSHLNSKTDVS
17:33880071-33880071 G>A	0.0	4316	COLON	-	-	-	-	SLFN14	ENST00000415846,p.R528C|uc010ctu.1,p.R528C|NM_001129820,p.R528C	protein_coding	uc010ctu.1	nonsynonymous SNV	exon3	c.C1582T	p.R528C	SSTQSRPGEIPLRYPRSYRLADEEE	SSTQSRPGEIPLCYPRSYRLADEEE	1.0	7.0	-	-	4316_17:33880071-33880071 G>A_SSTQSRPGEIPLCYPRSYRLADEEE
4:55561751-55561751 A>G	1.0	4316	COLON	-	-	-	1	KIT	NM_001093772,p.I47M|uc010igs.3,p.I47M|ENST00000412167,p.I47M|uc010igr.3,p.I47M|ENST00000288135,p.I47M|NM_000222,p.I47M	retained_intron, protein_coding	uc010igs.3	nonsynonymous SNV	exon2	c.A141G	p.I47M	SPPSIHPGKSDLIVRVGDEIRLLCT	SPPSIHPGKSDLMVRVGDEIRLLCT	7.0	10.0	-	-	4316_4:55561751-55561751 A>G_SPPSIHPGKSDLMVRVGDEIRLLCT
7:48315895-48315895 A>T	0.0	4316	COLON	-	-	-	-	ABCA13	NM_152701,p.N2211I|uc022acp.1,p.N710I|uc003toq.2,p.N2211I|ENST00000435803,p.N2211I|uc010kyr.2,p.N1714I	retained_intron, protein_coding, nonsense_mediated_decay	uc022acp.1	nonsynonymous SNV	exon1	c.A2129T	p.N710I	SVVQLLFENILINLINNLAGNSQEA	SVVQLLFENILIILINNLAGNSQEA	3.0	3.0	unscreened	-	4316_7:48315895-48315895 A>T_SVVQLLFENILIILINNLAGNSQEA
15:54919201-54919201 G>A	0.0	4316	COLON	-	-	-	-	UNC13C	uc002acm.3,p.E100K|ENST00000545554,p.E2179K|ENST00000539562,p.E100K|uc021sms.1,p.E2179K|NM_001080534,p.E2179K|ENST00000260323,p.E2179K|ENST00000537900,p.E2177K	retained_intron, protein_coding	uc021sms.1	nonsynonymous SNV	exon32	c.G6535A	p.E2179K	AWYPLLKNISMDETGLTILRILSQR	AWYPLLKNISMDKTGLTILRILSQR	1.0	10.0	-	-	4316_15:54919201-54919201 G>A_AWYPLLKNISMDKTGLTILRILSQR
15:56388408-56388408 C>A	1.0	4316	COLON	-	-	-	-	RFX7	uc002adn.1,p.R320S|NM_022841,p.R506S|uc010bfn.3,p.R506S|ENST00000317318,p.R506S|ENST00000559447,p.R409S|ENST00000422057,p.R409S|ENST00000423270,p.R506S|ENST00000559847,p.R409S	protein_coding, nonsense_mediated_decay	uc010bfn.3	nonsynonymous SNV	exon9	c.G1518T	p.R506S	SVSSATGTTEESRSVPQIKNGSVVS	SVSSATGTTEESSSVPQIKNGSVVS	5.0	1.0	-	-	4316_15:56388408-56388408 C>A_SVSSATGTTEESSSVPQIKNGSVVS
20:45131112-45131112 C>A	0.0	4316	COLON	-	-	-	-	ZNF334	uc002xsc.4,p.G289V|ENST00000457685,p.G251V|ENST00000347606,p.G289V|uc010ghl.4,p.G288V|NM_018102,p.G289V|uc002xsb.4,p.G251V|uc031rtw.1,p.G251V|uc002xsa.4,p.G312V|ENST00000593880,p.G312V|uc002xsd.4,p.G251V|NM_001270497,p.G288V	protein_coding	uc031rtw.1	nonsynonymous SNV	exon5	c.G752T	p.G251V	KTSLTRHRRIHTGERPYECSECRKT	KTSLTRHRRIHTVERPYECSECRKT	3.0	1.0	-	-	4316_20:45131112-45131112 C>A_KTSLTRHRRIHTVERPYECSECRKT
X:79698076-79698076 A>T	0.0	4316	COLON	-	-	-	-	FAM46D	uc004edl.1,p.Q13L|ENST00000308293,p.Q13L|uc022bzm.1,p.Q13L|NM_152630,p.Q13L|ENST00000538312,p.Q13L|uc004edm.2,p.Q13L|NM_001170574,p.Q13L	protein_coding	uc022bzm.1	nonsynonymous SNV	exon1	c.A38T	p.Q13L	MSEIRFTNLTWDQVITLDQVLDEVI	MSEIRFTNLTWDLVITLDQVLDEVI	1.0	6.0	unscreened	-	4316_X:79698076-79698076 A>T_MSEIRFTNLTWDLVITLDQVLDEVI
1:200860714-200860714 G>T	0.0	4316	COLON	-	-	-	-	C1orf106	ENST00000367342,p.G16C|uc001gvo.4,p.G30C|NM_018265,p.G30C	protein_coding, processed_transcript	uc001gvo.4	nonsynonymous SNV	exon1	c.G88T	p.G30C	MPKLNEIPPGRAGRREARGEGRWPG	MPKLNEIPPGRACRREARGEGRWPG	7.0	8.0	-	-	4316_1:200860714-200860714 G>T_MPKLNEIPPGRACRREARGEGRWPG
19:30935178-30935178 G>A	0.0	4316	COLON	-	-	-	-	ZNF536	uc002nsu.1,p.A237T|NM_014717,p.A237T|uc010edd.1,p.A237T|ENST00000585628,p.A237T|ENST00000355537,p.A237T	protein_coding, processed_transcript	uc010edd.1	nonsynonymous SNV	exon2	c.G709A	p.A237T	KPPPHAQQAPLAACTLALQANHSVP	KPPPHAQQAPLATCTLALQANHSVP	1.0	2.0	unscreened	-	4316_19:30935178-30935178 G>A_KPPPHAQQAPLATCTLALQANHSVP
10:114925334-114925334 G>A	1.0	4316	COLON	-	-	ID=COSM267875,COSM267877,COSM267876;OCCURENCE=3(large_intestine)	1	TCF7L2	NM_001198526,p.R448H|NM_001146274,p.R471H|uc010qrr.2,p.R403H|uc010qrt.2,p.R359H|ENST00000543371,p.R471H|uc001lae.4,p.R471H|ENST00000545257,p.R488H|uc021pyk.1,p.R453H|uc010qrl.2,p.R448H|uc021pyn.1,p.R476H	protein_coding, processed_transcript, nonsense_mediated_decay	uc021pyn.1	nonsynonymous SNV	exon14	c.G1427A	p.R476H	WCKPCRRKKKCVRYIQGEGSCLSPP	WCKPCRRKKKCVHYIQGEGSCLSPP	10.0	8.0	-	-	4316_10:114925334-114925334 G>A_WCKPCRRKKKCVHYIQGEGSCLSPP
10:114925334-114925334 G>A	1.0	4316	COLON	-	-	ID=COSM267875,COSM267877,COSM267876;OCCURENCE=3(large_intestine)	1	TCF7L2	NM_030756,p.R465H|ENST00000355995,p.R488H|ENST00000277945,p.R188H|uc010qrs.2,p.R359H|uc001laf.4,p.R448H|uc001lac.4,p.R465H|ENST00000369397,p.R465H|ENST00000542695,p.R204H|NM_001146285,p.R448H|ENST00000536810,p.R471H|uc021pyi.1,p.R488H|uc021pyg.1,p.R204H	protein_coding, processed_transcript, nonsense_mediated_decay	uc021pyi.1	nonsynonymous SNV	exon15	c.G1463A	p.R488H	WCGPCRRKKKCVRYIQGEGSCLSPP	WCGPCRRKKKCVHYIQGEGSCLSPP	10.0	8.0	unscreened	-	4316_10:114925334-114925334 G>A_WCGPCRRKKKCVHYIQGEGSCLSPP
17:48243435-48243435 G>A	0.0	4316	COLON	-	-	-	-	SGCA	ENST00000262018,p.V12M|uc002iqi.3,p.V12M|NM_001135697,p.V12M|NM_000023,p.V12M|ENST00000344627,p.V12M|ENST00000502555,p.V12M|uc002iqj.3,p.V12M|ENST00000543315,p.V12M|ENST00000513821,p.V12M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002iqj.3	nonsynonymous SNV	exon1	c.G34A	p.V12M	MAETLFWTPLLVVLLAGLGDTEAQ	MAETLFWTPLLMVLLAGLGDTEAQ	2.0	7.0	-	-	4316_17:48243435-48243435 G>A_MAETLFWTPLLMVLLAGLGDTEAQ
12:130926714-130926714 C>T	0.0	4316	COLON	-	-	-	-	RIMBP2	NM_015347,p.D378N|ENST00000535703,p.D286N|uc001uim.3,p.D286N|uc001uil.2,p.D378N|ENST00000536002,p.D286N|ENST00000261655,p.D378N	retained_intron, protein_coding, nonsense_mediated_decay	uc001uim.3	nonsynonymous SNV	exon12	c.G856A	p.D286N	ISVQCVTSRGSSDELQCTLLVGKDV	ISVQCVTSRGSSNELQCTLLVGKDV	3.0	10.0	-	-	4316_12:130926714-130926714 C>T_ISVQCVTSRGSSNELQCTLLVGKDV
22:19044633-19044633 G>A	1.0	4316	COLON	-	-	ID=COSM2891968;OCCURENCE=1(urinary_tract)	-	DGCR2	ENST00000263196,p.S223L|NM_001184781,p.S220L|NM_001173534,p.S179L|NM_005137,p.S223L|NM_001173533,p.S182L|uc021wky.1,p.S182L|uc021wkx.1,p.S220L|ENST00000537045,p.S182L|uc011agr.1,p.S179L|uc002zoq.1,p.S223L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wky.1	nonsynonymous SNV	exon5	c.C545T	p.S182L	SEVFLPPDPIFASAMSENDNVFCAQ	SEVFLPPDPIFALAMSENDNVFCAQ	7.0	8.0	-	-	4316_22:19044633-19044633 G>A_SEVFLPPDPIFALAMSENDNVFCAQ
20:24988417-24988417 T>G	0.0	4316	COLON	-	-	-	-	ACSS1	uc002wuc.3,p.K682T|uc010gdc.3,p.K479T|ENST00000542618,p.K563T|ENST00000537502,p.K601T|uc021wbl.1,p.K563T|NM_001252675,p.K682T|ENST00000323482,p.K684T|NM_001252676,p.K563T|uc002wua.3,p.K601T|uc002wub.3,p.K684T|NM_032501,p.K684T	protein_coding, processed_transcript	uc021wbl.1	nonsynonymous SNV	exon13	c.A1688C	p.K563T	AEILSVYQKCKDKQAAAK	AEILSVYQKCKDTQAAAK	7.0	1.0	unscreened	-	4316_20:24988417-24988417 T>G_AEILSVYQKCKDTQAAAK
22:50211976-50211976 C>T	0.0	4316	COLON	-	-	-	-	BRD1	uc011arg.2,p.D475N|uc011arf.2,p.D16N|ENST00000542442,p.D114N|ENST00000342989,p.D16N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011arg.2	nonsynonymous SNV	exon2	c.G1423A	p.D475N	RKCLKRDCDQQADGLCRFGSFDCFR	RKCLKRDCDQQANGLCRFGSFDCFR	7.0	10.0	-	-	4316_22:50211976-50211976 C>T_RKCLKRDCDQQANGLCRFGSFDCFR
8:75757638-75757638 C>T	0.0	4316	COLON	-	-	ID=COSM1101600;OCCURENCE=1(endometrium),1(ovary)	-	PI15	uc003yal.3,p.R183W|uc003yam.3,p.R183W|NM_015886,p.R183W|ENST00000260113,p.R183W|ENST00000523773,p.R183W	protein_coding	uc003yam.3	nonsynonymous SNV	exon4	c.C547T	p.R183W	THYTQMVWATSNRIGCAIHTCQNMN	THYTQMVWATSNWIGCAIHTCQNMN	2.0	9.0	-	-	4316_8:75757638-75757638 C>T_THYTQMVWATSNWIGCAIHTCQNMN
8:144941246-144941246 G>A	0.0	4316	COLON	-	-	-	-	EPPK1	ENST00000525985,p.T2059M|NM_031308,p.T2059M|uc003zaa.1,p.T2059M	protein_coding	uc003zaa.1	nonsynonymous SNV	exon1	c.C6176T	p.T2059M	QKHMRKRFVDPNTQEKVSYRELQER	QKHMRKRFVDPNMQEKVSYRELQER	10.0	2.0	unscreened	-	4316_8:144941246-144941246 G>A_QKHMRKRFVDPNMQEKVSYRELQER
15:88669548-88669548 G>T	0.0	4316	COLON	-	-	-	1	NTRK3	ENST00000357724,p.F442L|uc002bmh.2,p.F442L|ENST00000560017,p.F54L|ENST00000355254,p.F450L|uc010bnh.1,p.F442L|uc002bme.2,p.F450L|ENST00000317501,p.F450L|uc002bmg.3,p.F450L|uc021sua.1,p.F442L|NM_001012338,p.F450L|NM_001007156,p.F450L|uc002bmf.2,p.F450L|ENST00000394480,p.F450L|ENST00000558676,p.F442L|ENST00000540489,p.F450L|NM_002530,p.F450L|ENST00000542733,p.F352L|uc010upl.1,p.F352L|NM_001243101,p.F442L|ENST00000557856,p.F442L|ENST00000360948,p.F450L	protein_coding, processed_transcript	uc021sua.1	nonsynonymous SNV	exon12	c.C1326A	p.F442L	LAAFACVLLVVLFVMINKYGRRSKF	LAAFACVLLVVLLVMINKYGRRSKF	5.0	5.0	-	-	4316_15:88669548-88669548 G>T_LAAFACVLLVVLLVMINKYGRRSKF
7:100646871-100646871 C>A	1.0	4316	COLON	-	-	-	-	MUC12	ENST00000379442,p.P4486T|ENST00000536621,p.P4343T|uc003uxo.3,p.P4343T|NM_001164462,p.P4343T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.C13027A	p.P4343T	SWPNSKDTTPAPPTTTSAFVELSTT	SWPNSKDTTPAPTTTTSAFVELSTT	10.0	2.0	unscreened	-	4316_7:100646871-100646871 C>A_SWPNSKDTTPAPTTTTSAFVELSTT
16:51175976-51175976 A>T	0.0	4316	COLON	-	-	-	-	SALL1	ENST00000251020,p.F53I|uc021tie.1,p.F53I|NM_002968,p.F53I	protein_coding, processed_transcript	uc021tie.1	nonsynonymous SNV	exon2	c.T157A	p.F53I	DAHVCGRCCAEFFELSDLLLHKKNC	DAHVCGRCCAEFIELSDLLLHKKNC	1.0	5.0	unscreened	-	4316_16:51175976-51175976 A>T_DAHVCGRCCAEFIELSDLLLHKKNC
9:79321044-79321044 A>G	1.0	4316	COLON	-	-	-	-	PRUNE2	ENST00000376718,p.V2049A|uc022bih.1,p.V1871A|ENST00000428286,p.V1690A|uc010mpk.3,p.V2049A|NM_015225,p.V2049A	protein_coding, processed_transcript	uc022bih.1	nonsynonymous SNV	exon7	c.T5612C	p.V1871A	GSTPSEDSRGTFVPDILHGNFQEGG	GSTPSEDSRGTFAPDILHGNFQEGG	7.0	8.0	-	-	4316_9:79321044-79321044 A>G_GSTPSEDSRGTFAPDILHGNFQEGG
13:92345698-92345698 C>T	0.0	4316	COLON	-	-	-	-	GPC5	uc010tif.2,p.R195W|ENST00000377067,p.R195W|NM_004466,p.R195W	protein_coding, processed_transcript	uc010tif.2	nonsynonymous SNV	exon3	c.C583T	p.R195W	VTDSSLEYSECIRMARRDVSPFGNI	VTDSSLEYSECIWMARRDVSPFGNI	3.0	9.0	-	-	4316_13:92345698-92345698 C>T_VTDSSLEYSECIWMARRDVSPFGNI
17:48243435-48243435 G>A	0.0	4316	COLON	-	-	-	-	SGCA	ENST00000514934,p.V12M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000514934	nonsynonymous SNV	exon1	c.G34A	p.V12M	MAETLFWTPLLVGKLGPCSAGRPR	MAETLFWTPLLMGKLGPCSAGRPR	2.0	7.0	-	-	4316_17:48243435-48243435 G>A_MAETLFWTPLLMGKLGPCSAGRPR
1:185964096-185964096 G>A	0.0	4316	COLON	-	-	-	-	HMCN1	ENST00000367492,p.V1219I|uc001grq.1,p.V1219I|ENST00000271588,p.V1219I|NM_031935,p.V1219I	protein_coding, processed_transcript	uc001grq.1	nonsynonymous SNV	exon24	c.G3655A	p.V1219I	GGSTMLVDGEHHVSNPDGTLSIDQA	GGSTMLVDGEHHISNPDGTLSIDQA	6.0	8.0	-	-	4316_1:185964096-185964096 G>A_GGSTMLVDGEHHISNPDGTLSIDQA
16:3021822-3021822 G>A	1.0	4316	COLON	-	-	-	-	PAQR4	ENST00000572687,p.R158H|ENST00000293978,p.R193H|ENST00000574988,p.R165H|uc010uwm.2,p.R163H|uc002csl.4,p.R158H|NM_152341,p.R232H|NM_001284512,p.R158H|uc002csj.4,p.R232H|NM_001284511,p.R193H|ENST00000576565,p.R165H|NM_001284513,p.R165H|ENST00000318782,p.R232H|uc002csk.4,p.R193H	protein_coding	uc010uwm.2	nonsynonymous SNV	exon2	c.G488A	p.R163H	NVARLPERWGPGRFDYWGNSHQIMH	NVARLPERWGPGHFDYWGNSHQIMH	5.0	2.0	unscreened	-	4316_16:3021822-3021822 G>A_NVARLPERWGPGHFDYWGNSHQIMH
12:50746608-50746608 T>A	0.0	4316	COLON	-	-	-	-	FAM186A	uc010smt.1,p.E1114V|uc001rwl.2,p.E1336V|NM_001145475,p.E1336V|ENST00000543111,p.E1336V|ENST00000327337,p.E1336V	protein_coding, nonsense_mediated_decay	uc010smt.1	nonsynonymous SNV	exon1	c.A3341T	p.E1114V	GIPLTPQQAQTQEITLTPQQAQALG	GIPLTPQQAQTQVITLTPQQAQALG	1.0	1.0	unscreened	-	4316_12:50746608-50746608 T>A_GIPLTPQQAQTQVITLTPQQAQALG
11:55594726-55594726 A>C	0.0	4316	COLON	-	-	-	-	OR5L2	uc001nhy.1,p.E11A|ENST00000378397,p.E11A|NM_001004739,p.E11A	protein_coding	uc001nhy.1	nonsynonymous SNV	exon1	c.A32C	p.E11A	MGKENCTTVAEFILLGLSDVPEL	MGKENCTTVAAFILLGLSDVPEL	1.0	3.0	unscreened	-	4316_11:55594726-55594726 A>C_MGKENCTTVAAFILLGLSDVPEL
19:20228764-20228764 A>C	0.0	4316	COLON	-	-	-	-	ZNF90	NM_007138,p.N134T|ENST00000418063,p.N134T|uc002nor.2,p.N134T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nor.2	nonsynonymous SNV	exon4	c.A401C	p.N134T	EGKVHKRGYNGLNQCLTATQSKVFQ	EGKVHKRGYNGLTQCLTATQSKVFQ	6.0	3.0	-	-	4316_19:20228764-20228764 A>C_EGKVHKRGYNGLTQCLTATQSKVFQ
14:105179556-105179556 C>T	1.0	4316	COLON	-	-	-	-	INF2	NM_022489,p.R930W|ENST00000252527,p.R398W|uc001ypc.2,p.R930W|NM_001031714,p.R930W|ENST00000392634,p.R930W|uc001ypb.2,p.R930W|ENST00000330634,p.R930W	retained_intron, protein_coding, nonsense_mediated_decay	uc001ypc.2	nonsynonymous SNV	exon19	c.C2788T	p.R930W	DLFLRALKENKDRKEQAAKAERRKQ	DLFLRALKENKDWKEQAAKAERRKQ	10.0	2.0	unscreened	-	4316_14:105179556-105179556 C>T_DLFLRALKENKDWKEQAAKAERRKQ
8:86121635-86121635 A>G	1.0	4316	COLON	-	-	-	-	E2F5	ENST00000256117,p.I293V|ENST00000416274,p.I292V|uc010mab.3,p.I131V|ENST00000517476,p.I131V|NM_001083589,p.I131V|ENST00000518234,p.I128V|uc003ycz.4,p.I292V|ENST00000521429,p.I119V|NM_001951,p.I292V	retained_intron, protein_coding, processed_transcript	uc010mab.3	nonsynonymous SNV	exon6	c.A391G	p.I131V	RSQALQQTSATDISSAGSISGDIID	RSQALQQTSATDVSSAGSISGDIID	9.0	8.0	-	-	4316_8:86121635-86121635 A>G_RSQALQQTSATDVSSAGSISGDIID
15:75942041-75942041 G>T	0.0	4316	COLON	-	-	-	-	SNX33	NM_153271,p.G200C|ENST00000308527,p.G200C|uc002bau.3,p.G200C	protein_coding	uc002bau.3	nonsynonymous SNV	exon1	c.G598T	p.G200C	CFVRSGVEAFILGDVPMMAKIAETY	CFVRSGVEAFILCDVPMMAKIAETY	4.0	6.0	-	-	4316_15:75942041-75942041 G>T_CFVRSGVEAFILCDVPMMAKIAETY
4:2273076-2273076 C>T	1.0	4316	COLON	-	-	-	-	ZFYVE28	uc003gex.2,p.V832I|uc003gew.2,p.V718I|uc011bvl.2,p.V802I|ENST00000515312,p.V762I|uc011bvk.2,p.V762I|NM_001172659,p.V762I|ENST00000290974,p.V832I|ENST00000508471,p.V137I|NM_001172656,p.V802I|ENST00000511071,p.V802I|NM_020972,p.V832I	retained_intron, protein_coding, processed_transcript	uc011bvl.2	nonsynonymous SNV	exon11	c.G2404A	p.V802I	CGFCTACKAPFTVIRRKHHCRSCGK	CGFCTACKAPFTIIRRKHHCRSCGK	4.0	10.0	-	-	4316_4:2273076-2273076 C>T_CGFCTACKAPFTIIRRKHHCRSCGK
1:40705103-40705103 A>C	0.0	4316	COLON	-	-	-	-	RLF	NM_012421,p.S1577R|uc001cfc.4,p.S1577R|ENST00000372771,p.S1577R|uc001cfd.4,p.S1268R	protein_coding, processed_transcript	uc001cfd.4	nonsynonymous SNV	exon2	c.A3802C	p.S1268R	SIVRHYKRTHQMSSAYLEQQMENLV	SIVRHYKRTHQMRSAYLEQQMENLV	5.0	1.0	-	-	4316_1:40705103-40705103 A>C_SIVRHYKRTHQMRSAYLEQQMENLV
15:27128352-27128352 G>T	0.0	4316	COLON	-	-	-	-	GABRA5	uc001zbd.2,p.S83I|ENST00000554596,p.S83I|ENST00000554599,p.S83I|NM_000810,p.S83I|NM_001165037,p.S83I|ENST00000335625,p.S83I|ENST00000555182,p.S51I|ENST00000355395,p.S83I|ENST00000554083,p.S51I|uc021sgi.1,p.S83I|ENST00000400081,p.S83I	protein_coding, processed_transcript	uc021sgi.1	nonsynonymous SNV	exon5	c.G248T	p.S83I	RITQVRTDIYVTSFGPVSDTEMEYT	RITQVRTDIYVTIFGPVSDTEMEYT	1.0	4.0	unscreened	-	4316_15:27128352-27128352 G>T_RITQVRTDIYVTIFGPVSDTEMEYT
19:49558216-49558216 C>T	0.0	4316	COLON	-	rs36106771	-	-	CGB7	uc002pme.3,p.R22K|uc002pmd.3,p.R22K|ENST00000596965,p.R22K|ENST00000597853,p.R22K|NM_033142,p.R22K|ENST00000377280,p.R22K|ENST00000356213,p.R20K	protein_coding, processed_transcript	uc002pme.3	nonsynonymous SNV	exon4	c.G65A	p.R22K	LLLLSMGGTWASREMLRPRCRPINA	LLLLSMGGTWASKEMLRPRCRPINA	1.0	6.0	unscreened	-	4316_19:49558216-49558216 C>T_LLLLSMGGTWASKEMLRPRCRPINA
2:241494422-241494422 A>C	1.0	4316	COLON	-	-	-	-	ANKMY1	ENST00000403283,p.L145R|NM_017844,p.L66R|NM_001282771,p.L66R|NM_001282781,p.L66R|ENST00000361678,p.L66R|uc010fzd.1,p.L66R|ENST00000536462,p.L19R|uc002vzd.1,p.L66R|uc002vzc.1,p.L66R|ENST00000441168,p.L19R|ENST00000406958,p.L66R|uc002vzb.1,p.L66R|NM_001282780,p.L66R|ENST00000401804,p.L66R|ENST00000405523,p.L66R|ENST00000373318,p.L66R|uc002vza.1,p.L66R	retained_intron, protein_coding, processed_transcript	uc010fzd.1	nonsynonymous SNV	exon3	c.T197G	p.L66R	APEKEEEEAEGPLRAQDLRESYIQL	APEKEEEEAEGPRRAQDLRESYIQL	9.0	7.0	-	-	4316_2:241494422-241494422 A>C_APEKEEEEAEGPRRAQDLRESYIQL
19:42510820-42510820 C>G	0.0	4316	COLON	-	-	-	-	GRIK5	ENST00000262895,p.G672R|uc002osi.2,p.G244R|NM_002088,p.G672R|NM_001301030,p.G672R|uc002osj.2,p.G672R|ENST00000301218,p.G672R|ENST00000593562,p.G672R	retained_intron, protein_coding, nonsense_mediated_decay	uc002osj.2	nonsynonymous SNV	exon15	c.G2014C	p.G672R	DQTNIEYGTIHAGSTMTFFQNSRYQ	DQTNIEYGTIHARSTMTFFQNSRYQ	3.0	9.0	unscreened	-	4316_19:42510820-42510820 C>G_DQTNIEYGTIHARSTMTFFQNSRYQ
14:105414996-105414996 G>C	1.0	4316	COLON	-	-	-	-	AHNAK2	uc001ypx.2,p.D2164E|ENST00000333244,p.D2264E|NM_138420,p.D2264E|uc010axc.1,p.D2264E	retained_intron, protein_coding	uc010axc.1	nonsynonymous SNV	exon7	c.C6792G	p.D2264E	KGPEIDIKGPKLDLKDPKVEVTAPD	KGPEIDIKGPKLELKDPKVEVTAPD	10.0	9.0	-	-	4316_14:105414996-105414996 G>C_KGPEIDIKGPKLELKDPKVEVTAPD
11:122945471-122945471 G>C	0.0	4316	COLON	-	-	-	-	CLMP	uc001pyt.3,p.L254V|ENST00000448775,p.L254V|NM_024769,p.L254V	retained_intron, protein_coding, processed_transcript	uc001pyt.3	nonsynonymous SNV	exon6	c.C760G	p.L254V	VAGALLIFLLVWLLIRRKDKERYEE	VAGALLIFLLVWVLIRRKDKERYEE	1.0	1.0	unscreened	-	4316_11:122945471-122945471 G>C_VAGALLIFLLVWVLIRRKDKERYEE
19:44740669-44740669 G>T	0.0	4316	COLON	-	-	-	-	ZNF227	NM_001289167,p.G645C|ENST00000589005,p.G645C|ENST00000391961,p.G645C|NM_001289171,p.G617C|ENST00000313040,p.G696C|NM_001289168,p.G645C|uc002oyw.3,p.G668C|uc010ejh.3,p.G689C|NM_001289173,p.G668C|uc010xwu.2,p.G645C|NM_001289169,p.G645C|NM_001289170,p.G617C|NM_182490,p.G696C|NM_001289166,p.G696C|uc010xww.2,p.G617C|uc002oyu.3,p.G696C|NM_001289172,p.G599C|uc010xwv.2,p.G645C|uc002oyv.3,p.G696C	retained_intron, protein_coding, processed_transcript	uc010xww.2	nonsynonymous SNV	exon4	c.G1849T	p.G617C	GEKPYKCEECGKGFGRSLNLRHHQR	GEKPYKCEECGKCFGRSLNLRHHQR	5.0	2.0	unscreened	-	4316_19:44740669-44740669 G>T_GEKPYKCEECGKCFGRSLNLRHHQR
7:135419051-135419051 A>G	0.0	4316	COLON	-	-	-	-	FAM180A	uc010lmu.2,p.L65P|NM_205855,p.L65P|ENST00000415751,p.L65P|ENST00000444083,p.L65P|ENST00000338588,p.L65P|uc003vtd.3,p.L65P	protein_coding, nonsense_mediated_decay	uc010lmu.2	nonsynonymous SNV	exon3	c.T194C	p.L65P	EVELLYEFLLAELEISPDLQISIKD	EVELLYEFLLAEPEISPDLQISIKD	1.0	9.0	-	-	4316_7:135419051-135419051 A>G_EVELLYEFLLAEPEISPDLQISIKD
1:11710779-11710779 ->GCG	0.0	4316	COLON	-	-	ID=COSM1180447;OCCURENCE=1(prostate)	-	FBXO2	ENST00000354287,p.A45delinsAA|NM_012168,p.A45delinsAA|uc009vna.3,p.A45delinsAA|uc001asj.3,p.A45delinsAA	protein_coding, processed_transcript	uc009vna.3	nonframeshift insertion	exon2	c.134_135insCGC	p.A45delinsAA	EDQQEEEAAAAAAYLDELPEPLLLR	EDQQEEEAAAAAAAYLDELPEPLLL	4.0	5.0	unscreened	-	4316_1:11710779-11710779 ->GCG_EDQQEEEAAAAAAAYLDELPEPLLL
15:100243578-100243578 G>T	0.0	4316	COLON	-	-	-	-	MEF2A	NM_001130927,p.E222D|ENST00000557942,p.E290D|uc002bve.3,p.E290D|ENST00000558812,p.E222D|uc010urv.2,p.E222D|uc010urw.2,p.E292D	retained_intron, protein_coding, processed_transcript	uc010urw.2	nonsynonymous SNV	exon8	c.G876T	p.E292D	SSKGMMPPLSEEEELELNTQRISSS	SSKGMMPPLSEEDELELNTQRISSS	10.0	1.0	unscreened	-	4316_15:100243578-100243578 G>T_SSKGMMPPLSEEDELELNTQRISSS
8:27779582-27779582 G>A	0.0	4316	COLON	-	-	-	-	SCARA5	uc003xgl.3,p.A141V|NM_173833,p.A141V|ENST00000524352,p.A141V|ENST00000301906,p.A98V|ENST00000518030,p.A98V|uc003xgj.3,p.A141V|ENST00000354914,p.A141V|uc003xgk.3,p.A98V	protein_coding	uc003xgl.3	nonsynonymous SNV	exon4	c.C422T	p.A141V	QDALQNQSDSLLALAGAVQRLEGAL	QDALQNQSDSLLVLAGAVQRLEGAL	1.0	10.0	-	-	4316_8:27779582-27779582 G>A_QDALQNQSDSLLVLAGAVQRLEGAL
22:28559408-28559408 C>A	0.0	4316	COLON	-	-	-	-	TTC28	ENST00000397906,p.E371D|NM_001145418,p.E371D|uc003adp.4,p.E371D	retained_intron, protein_coding, processed_transcript	uc003adp.4	nonsynonymous SNV	exon6	c.G1113T	p.E371D	NMGAVYIAMGDFENAVQCHEQHLKI	NMGAVYIAMGDFDNAVQCHEQHLKI	6.0	10.0	-	-	4316_22:28559408-28559408 C>A_NMGAVYIAMGDFDNAVQCHEQHLKI
4:77288567-77288567 C>A	0.0	4316	COLON	-	-	-	-	CCDC158	ENST00000388914,p.Q570H|uc003hkb.4,p.Q570H|NM_001042784,p.Q570H	retained_intron, protein_coding, processed_transcript	uc003hkb.4	nonsynonymous SNV	exon11	c.G1710T	p.Q570H	TEKDKVIEILRQQIENMTQLVGQHG	TEKDKVIEILRQHIENMTQLVGQHG	1.0	1.0	unscreened	-	4316_4:77288567-77288567 C>A_TEKDKVIEILRQHIENMTQLVGQHG
3:38945468-38945468 G>A	0.0	4316	COLON	-	-	ID=COSM1422884;OCCURENCE=1(large_intestine)	-	SCN11A	ENST00000450244,p.P577L|NM_014139,p.P577L|uc021wvy.1,p.P577L|ENST00000444237,p.P577L|ENST00000456224,p.P577L|ENST00000302328,p.P577L|NM_001287223,p.P577L	protein_coding	uc021wvy.1	nonsynonymous SNV	exon12	c.C1730T	p.P577L	CVKKVLRTVMTDPFTELAITICIII	CVKKVLRTVMTDLFTELAITICIII	1.0	7.0	-	-	4316_3:38945468-38945468 G>A_CVKKVLRTVMTDLFTELAITICIII
X:79698078-79698078 G>T	0.0	4316	COLON	-	-	-	-	FAM46D	ENST00000538312,p.V14F|ENST00000308293,p.V14F|uc004edm.2,p.V14F|NM_152630,p.V14F|uc004edl.1,p.V14F|NM_001170574,p.V14F|uc022bzm.1,p.V14F	protein_coding	uc022bzm.1	nonsynonymous SNV	exon1	c.G40T	p.V14F	SEIRFTNLTWDQVITLDQVLDEVIP	SEIRFTNLTWDQFITLDQVLDEVIP	1.0	5.0	unscreened	-	4316_X:79698078-79698078 G>T_SEIRFTNLTWDQFITLDQVLDEVIP
6:152651278-152651278 ->T	0.0	4316	COLON	-	-	-	-	SYNE1	NM_033071,p.P4777fs|uc003qou.4,p.P4848fs|uc003qot.4,p.P4777fs|ENST00000341594,p.P4595fs|uc010kiz.4,p.P603fs|ENST00000448038,p.P4777fs|ENST00000265368,p.P4848fs|ENST00000423061,p.P4777fs|ENST00000367255,p.P4848fs|NM_182961,p.P4848fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kiz.4	frameshift insertion	exon2	c.1806_1807insA	p.P603fs	TIHLEDLAPHLDPLAYEKARHQIQS	TIHLEDLAPHLDTLGL	7.0	5.0	-	-	4316_6:152651278-152651278 ->T_TIHLEDLAPHLDTLGL
14:52509643-52509643 G>C	0.0	4316	COLON	-	-	-	-	NID2	uc001wzp.3,p.T479R|uc010tqs.2,p.T479R|ENST00000216286,p.T479R|NM_007361,p.T479R|uc001wzo.3,p.T479R|ENST00000541773,p.T426R|uc010tqt.1,p.T479R	retained_intron, protein_coding	uc010tqt.1	nonsynonymous SNV	exon6	c.C1436G	p.T479R	LEDNIGSNTEVFTYNAANKETCEHN	LEDNIGSNTEVFRYNAANKETCEHN	4.0	7.0	-	-	4316_14:52509643-52509643 G>C_LEDNIGSNTEVFRYNAANKETCEHN
2:96690298-96690298 C>T	0.0	4316	COLON	-	-	-	-	GPAT2	uc002svg.3,p.V395M|ENST00000359548,p.V516M|uc002sve.3,p.V318M|ENST00000453542,p.V445M|NM_207328,p.V516M|uc010yuh.2,p.V445M|ENST00000434632,p.V516M|uc002svh.3,p.V516M|ENST00000377137,p.V516M|uc002svf.3,p.V516M|uc002svd.3,p.V335M	retained_intron, protein_coding, processed_transcript	uc010yuh.2	nonsynonymous SNV	exon14	c.G1333A	p.V445M	LLQHSLSLLRAHVALLRIRQGDLLV	LLQHSLSLLRAHMALLRIRQGDLLV	2.0	8.0	-	-	4316_2:96690298-96690298 C>T_LLQHSLSLLRAHMALLRIRQGDLLV
15:89399986-89399986 C>G	0.0	4316	COLON	-	-	-	-	ACAN	NM_013227,p.D1390E|ENST00000561243,p.D1390E|ENST00000352105,p.D1390E|uc010upp.1,p.D1390E|NM_001135,p.D1390E|ENST00000439576,p.D1390E|ENST00000559004,p.D1390E|uc010upo.1,p.D1390E	retained_intron, protein_coding	uc010upp.1	nonsynonymous SNV	exon12	c.C4170G	p.D1390E	GEVLETAAPGVEDISGLPSGEVLET	GEVLETAAPGVEEISGLPSGEVLET	3.0	1.0	-	-	4316_15:89399986-89399986 C>G_GEVLETAAPGVEEISGLPSGEVLET
1:218609465-218609465 C>T	0.0	4316	COLON	-	-	-	-	TGFB2	ENST00000366930,p.A303V|uc001hlm.3,p.A303V|NM_003238,p.A303V|NM_001135599,p.A331V|uc001hln.3,p.A331V|ENST00000366929,p.A331V	protein_coding, processed_transcript	uc001hln.3	nonsynonymous SNV	exon6	c.C992T	p.A331V	LESQQTNRRKKRALDAAYCFRNVQD	LESQQTNRRKKRVLDAAYCFRNVQD	2.0	8.0	-	-	4316_1:218609465-218609465 C>T_LESQQTNRRKKRVLDAAYCFRNVQD
19:22575088-22575088 C>A	0.0	4316	COLON	-	-	-	-	ZNF98	ENST00000357774,p.A317S|uc002nqt.2,p.A317S|NM_001098626,p.A317S	protein_coding, processed_transcript	uc002nqt.2	nonsynonymous SNV	exon4	c.G949T	p.A317S	QSSTLTAHKIIHAGEKPYKCEECGK	QSSTLTAHKIIHSGEKPYKCEECGK	4.0	1.0	unscreened	-	4316_19:22575088-22575088 C>A_QSSTLTAHKIIHSGEKPYKCEECGK
3:29910395-29910395 G>T	0.0	4316	COLON	-	-	-	-	RBMS3	uc003cem.3,p.K227N|ENST00000445033,p.K228N|NM_001003793,p.K228N|ENST00000396583,p.K228N|ENST00000383766,p.K227N|NM_014483,p.K228N|NM_001003792,p.K227N|uc003cel.3,p.K228N|NM_001177712,p.K228N|ENST00000456853,p.K228N|uc010hfq.3,p.K228N|ENST00000434693,p.K227N|ENST00000452462,p.K228N|ENST00000383767,p.K228N|uc003cek.3,p.K228N|NM_001177711,p.K228N|uc010hfr.3,p.K228N|ENST00000273139,p.K228N	retained_intron, protein_coding, processed_transcript	uc010hfr.3	nonsynonymous SNV	exon7	c.G684T	p.K228N	EPLLCKFADGGQKKRQNQSKYTQNG	EPLLCKFADGGQNKRQNQSKYTQNG	5.0	8.0	-	-	4316_3:29910395-29910395 G>T_EPLLCKFADGGQNKRQNQSKYTQNG
11:8148382-8148382 T>G	0.0	4316	COLON	-	-	-	-	RIC3	ENST00000531450,p.K193T|uc010rbm.1,p.K193T	protein_coding, processed_transcript, nonsense_mediated_decay	uc010rbm.1	nonsynonymous SNV	exon5	c.A578C	p.K193T	DVYVHCLGVFTTKWLDCLIFLSRAQ	DVYVHCLGVFTTTWLDCLIFLSRAQ	5.0	4.0	unscreened	-	4316_11:8148382-8148382 T>G_DVYVHCLGVFTTTWLDCLIFLSRAQ
9:133963151-133963151 G>A	0.0	4316	COLON	0.0009	-	-	-	LAMC3	ENST00000361069,p.R1475H|uc010mze.1,p.R163H|NM_006059,p.R1475H|uc004caa.1,p.R1475H	protein_coding, processed_transcript	uc010mze.1	nonsynonymous SNV	exon5	c.G488A	p.R163H	GLSEMEQQIRESRISLEKDIETLSE	GLSEMEQQIRESHISLEKDIETLSE	5.0	5.0	-	-	4316_9:133963151-133963151 G>A_GLSEMEQQIRESHISLEKDIETLSE
X:51076226-51076226 G>A	0.0	4316	COLON	-	-	-	-	NUDT10	ENST00000356450,p.A137T|NM_153183,p.A137T|uc004dpi.4,p.A137T|ENST00000376006,p.A137T|uc004dph.3,p.A137T	protein_coding	uc004dpi.4	nonsynonymous SNV	exon1	c.G409A	p.A137T	AIKVLQCHKPVHAEYLEKLKLGGSP	AIKVLQCHKPVHTEYLEKLKLGGSP	1.0	6.0	-	-	4316_X:51076226-51076226 G>A_AIKVLQCHKPVHTEYLEKLKLGGSP
5:38883931-38883931 C>G	0.0	4316	COLON	-	-	-	-	OSMR	NM_001168355,p.Q141E|uc003jln.2,p.Q141E|ENST00000274276,p.Q141E|uc003jlm.2,p.Q141E|NM_003999,p.Q141E|ENST00000502536,p.Q141E	protein_coding, nonsense_mediated_decay	uc003jln.2	nonsynonymous SNV	exon5	c.C421G	p.Q141E	WSNWSSWEEVSVQDSTGQDILFVFP	WSNWSSWEEVSVEDSTGQDILFVFP	5.0	6.0	-	-	4316_5:38883931-38883931 C>G_WSNWSSWEEVSVEDSTGQDILFVFP
17:44953794-44953794 T>C	0.0	4316	COLON	-	-	-	-	WNT9B	ENST00000393461,p.W262R|uc002ikx.1,p.W262R|ENST00000290015,p.W262R|NM_003396,p.W262R|uc002ikw.1,p.W262R	protein_coding	uc002ikx.1	nonsynonymous SNV	exon4	c.T784C	p.W262R	SATNEALGRLELWAPARQGSLTKGL	SATNEALGRLELRAPARQGSLTKGL	2.0	1.0	unscreened	-	4316_17:44953794-44953794 T>C_SATNEALGRLELRAPARQGSLTKGL
X:120008797-120008823 TCCTCTGTGGCCTCCTCTGTGAGCTTC>-	0.0	4316	COLON	-	-	ID=COSM111663;OCCURENCE=1(ovary),2(breast)	-	CT47B1	NM_001145718,p.234_243del|uc011muc.2,p.234_243del|ENST00000371311,p.234_243del	protein_coding	uc011muc.2	nonframeshift deletion	exon1	c.702_728del	p.234_243del	AADEKPPEEAAEEKLTEEATEEPAA	AADEKPPEEAAEEPAAEEPTSEEAV	1.0	10.0	-	-	4316_X:120008797-120008823 TCCTCTGTGGCCTCCTCTGTGAGCTTC>-_AADEKPPEEAAEEPAAEEPTSEEAV
17:41003468-41003468 C>A	0.0	4316	COLON	-	-	-	-	AOC3	uc031rao.1,p.S36R|NM_003734,p.S36R|uc002ibv.4,p.S36R|NM_001277731,p.S36R|ENST00000308423,p.S36R	protein_coding, nonsense_mediated_decay	uc031rao.1	nonsynonymous SNV	exon1	c.C108A	p.S36R	LLVGRGGDGGEPSQLPHCPSVSPSA	LLVGRGGDGGEPRQLPHCPSVSPSA	4.0	6.0	-	-	4316_17:41003468-41003468 C>A_LLVGRGGDGGEPRQLPHCPSVSPSA
12:128899948-128899948 C>T	0.0	4316	COLON	-	-	-	-	TMEM132C	NM_001136103,p.R253C|ENST00000435159,p.R253C|uc021rgn.1,p.R253C	protein_coding	uc021rgn.1	nonsynonymous SNV	exon2	c.C757T	p.R253C	CAGGDFRKGNAIRPGKDGLEETTSH	CAGGDFRKGNAICPGKDGLEETTSH	1.0	9.0	-	-	4316_12:128899948-128899948 C>T_CAGGDFRKGNAICPGKDGLEETTSH
8:142367077-142367077 C>T	0.0	4316	COLON	-	-	-	-	GPR20	uc003ywf.3,p.G316E|uc022bby.1,p.G316E|ENST00000377741,p.G316E|NM_005293,p.G316E	protein_coding	uc022bby.1	nonsynonymous SNV	exon1	c.G947A	p.G316E	FQATVRGLFGQHGEREPSSGDVVSM	FQATVRGLFGQHEEREPSSGDVVSM	2.0	10.0	-	-	4316_8:142367077-142367077 C>T_FQATVRGLFGQHEEREPSSGDVVSM
2:228771945-228771945 T>A	0.0	4316	COLON	-	-	-	-	DAW1	ENST00000373666,p.L317H	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000373666	nonsynonymous SNV	exon10	c.T950A	p.L317H	EILDSCFDYTGKLIATASADDGVSL	EILDSCFDYTGKHIATASADDGVSL	1.0	2.0	unscreened	-	4316_2:228771945-228771945 T>A_EILDSCFDYTGKHIATASADDGVSL
11:133796904-133796904 G>C	0.0	4316	COLON	-	-	-	-	IGSF9B	uc001qgy.1,p.L414V|uc031qfh.1,p.L572V|ENST00000533871,p.L572V|NM_001277285,p.L572V|ENST00000321016,p.L572V	protein_coding	uc031qfh.1	nonsynonymous SNV	exon13	c.C1714G	p.L572V	VPPGPSWLLVDTLEPETAYQFSVLA	VPPGPSWLLVDTVEPETAYQFSVLA	3.0	5.0	-	-	4316_11:133796904-133796904 G>C_VPPGPSWLLVDTVEPETAYQFSVLA
20:51871441-51871441 G>A	0.0	4316	COLON	-	-	-	-	TSHZ2	NM_173485,p.E482K|ENST00000603338,p.E479K|NM_001193421,p.E479K|uc021wex.1,p.E479K|uc002xwo.3,p.E482K|ENST00000371497,p.E482K|ENST00000329613,p.E479K	protein_coding, processed_transcript	uc021wex.1	nonsynonymous SNV	exon2	c.G1435A	p.E479K	EETSKDEKVVKSEDYEDPLQKPLDP	EETSKDEKVVKSKDYEDPLQKPLDP	2.0	9.0	-	-	4316_20:51871441-51871441 G>A_EETSKDEKVVKSKDYEDPLQKPLDP
2:228771945-228771945 T>A	0.0	4316	COLON	-	-	-	-	DAW1	uc010zlw.1,p.L302H|ENST00000545118,p.L302H|ENST00000309931,p.L317H|NM_178821,p.L317H|uc002vpn.1,p.L317H	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zlw.1	nonsynonymous SNV	exon11	c.T905A	p.L302H	EILDSCFDYTGKLIATASADGTARI	EILDSCFDYTGKHIATASADGTARI	1.0	2.0	unscreened	-	4316_2:228771945-228771945 T>A_EILDSCFDYTGKHIATASADGTARI
8:86121635-86121635 A>G	1.0	4316	COLON	-	-	-	-	E2F5	uc003yda.4,p.I292V|NM_001083588,p.I292V|ENST00000418930,p.I292V	retained_intron, protein_coding, processed_transcript	uc003yda.4	nonsynonymous SNV	exon6	c.A874G	p.I292V	RSQALQQTSATDISSGSISGDIIDE	RSQALQQTSATDVSSGSISGDIIDE	9.0	8.0	-	-	4316_8:86121635-86121635 A>G_RSQALQQTSATDVSSGSISGDIIDE
X:83128760-83128760 G>T	0.0	4316	COLON	-	-	-	-	CYLC1	NM_021118,p.K348N|uc004eei.2,p.K348N|ENST00000329312,p.K348N|uc004eeh.2,p.K347N	protein_coding	uc004eei.2	nonsynonymous SNV	exon4	c.G1044T	p.K348N	ESGDSKDERKDTKKDKKKLKKDDKK	ESGDSKDERKDTNKDKKKLKKDDKK	1.0	10.0	-	-	4316_X:83128760-83128760 G>T_ESGDSKDERKDTNKDKKKLKKDDKK
16:2278454-2278454 A>G	0.0	4316	COLON	-	-	-	-	E4F1	uc010bsj.3,p.K80R|NM_001288776,p.K80R|ENST00000564139,p.K80R|uc002cpm.3,p.K80R|ENST00000565090,p.K80R|uc010bsi.3,p.K80R|ENST00000565413,p.K58R|NM_001288778,p.K80R|NM_004424,p.K80R|ENST00000301727,p.K80R	retained_intron, protein_coding, nonsense_mediated_decay	uc010bsj.3	nonsynonymous SNV	exon2	c.A239G	p.K80R	TALEDFVQHKIQKACQRAPPEALPA	TALEDFVQHKIQRACQRAPPEALPA	7.0	2.0	-	-	4316_16:2278454-2278454 A>G_TALEDFVQHKIQRACQRAPPEALPA
2:183050718-183050718 C>A	0.0	4316	COLON	-	-	-	-	PDE1A	ENST00000410103,p.D489Y|uc010zfp.2,p.D385Y|uc010zfq.2,p.D493Y|ENST00000358139,p.D489Y|NM_001258314,p.D455Y|NM_001258313,p.D473Y|ENST00000456212,p.D489Y|uc002uoq.2,p.D489Y|ENST00000435564,p.D489Y|uc002uou.4,p.D455Y|ENST00000351439,p.D473Y|NM_005019,p.D489Y|NM_001003683,p.D489Y|uc002uos.4,p.D489Y|ENST00000409365,p.D473Y|uc002uor.4,p.D473Y|ENST00000346717,p.D455Y|ENST00000331935,p.D489Y|NM_001258312,p.D493Y|ENST00000536095,p.D385Y	protein_coding, processed_transcript	uc010zfq.2	nonsynonymous SNV	exon14	c.G1477T	p.D493Y	TKGSMSDGSYSPDYSLAAVDLKSFK	TKGSMSDGSYSPYYSLAAVDLKSFK	2.0	6.0	-	-	4316_2:183050718-183050718 C>A_TKGSMSDGSYSPYYSLAAVDLKSFK
6:31681637-31681637 G>T	0.0	4316	COLON	-	-	-	-	LY6G6E	uc003nwc.2,p.L10I|uc003nwe.2,p.L10I|ENST00000409239,p.L10I	protein_coding, processed_transcript	uc003nwe.2	nonsynonymous SNV	exon1	c.C28A	p.L10I	MLQLYKSRDLGVQITSPRFLSL	MLQLYKSRDIGVQITSPRFLSL	3.0	4.0	unscreened	-	4316_6:31681637-31681637 G>T_MLQLYKSRDIGVQITSPRFLSL
X:153042672-153042672 C>T	0.0	4316	COLON	-	-	-	-	PLXNB3	uc010nuk.2,p.T1669M|ENST00000361971,p.T1646M|uc011mzd.2,p.T1299M|ENST00000538966,p.T1669M|NM_005393,p.T1646M|ENST00000538776,p.T1299M|NM_001163257,p.T1669M|uc004fii.2,p.T1646M	protein_coding, processed_transcript	uc011mzd.2	nonsynonymous SNV	exon29	c.C3896T	p.T1299M	LAQRCPLGENIPTLEDGEEGGVCLW	LAQRCPLGENIPMLEDGEEGGVCLW	5.0	8.0	-	-	4316_X:153042672-153042672 C>T_LAQRCPLGENIPMLEDGEEGGVCLW
9:43861018-43861018 C>T	0.0	4316	COLON	-	-	-	-	CNTNAP3B	uc004ada.2,p.T631M|ENST00000377564,p.T631M|NM_001201380,p.T631M|ENST00000479351,p.T538M	protein_coding, processed_transcript, nonsense_mediated_decay	uc004ada.2	nonsynonymous SNV	exon13	c.C1892T	p.T631M	LVYCNMTADSAWTVVRHGGPDAVTL	LVYCNMTADSAWMVVRHGGPDAVTL	3.0	8.0	unscreened	-	4316_9:43861018-43861018 C>T_LVYCNMTADSAWMVVRHGGPDAVTL
2:179400127-179400127 C>T	0.0	4316	COLON	-	-	-	-	TTN	ENST00000342992,p.V31171I|NM_003319,p.V24674I|ENST00000460472,p.V24674I|uc021vtb.2,p.V24674I|NM_133437,p.V24866I|NM_001267550,p.V33739I|uc021vsz.2,p.V24866I|uc021vsy.2,p.V31171I|uc031rqd.1,p.V32098I|uc021vta.2,p.V24799I|NM_133432,p.V24799I|ENST00000591111,p.V32098I|ENST00000342175,p.V24866I|ENST00000359218,p.V24799I|NM_133378,p.V31171I|uc031rqc.1,p.V33739I|NM_001256850,p.V32098I	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon308	c.G96292A	p.V32098I	EKCATTAERWLRVGQARETRYTVIN	EKCATTAERWLRIGQARETRYTVIN	6.0	2.0	unscreened	-	4316_2:179400127-179400127 C>T_EKCATTAERWLRIGQARETRYTVIN
17:74072730-74072730 C>T	0.0	4316	COLON	-	-	-	-	GALR2	NM_003857,p.R128C|uc002jqm.1,p.R128C|ENST00000329003,p.R128C	protein_coding	uc002jqm.1	nonsynonymous SNV	exon2	c.C382T	p.R128C	LAAVSLDRYLAIRYPLHSRELRTPR	LAAVSLDRYLAICYPLHSRELRTPR	1.0	4.0	unscreened	-	4316_17:74072730-74072730 C>T_LAAVSLDRYLAICYPLHSRELRTPR
2:72362460-72362460 C>T	0.0	4316	COLON	-	-	-	-	CYP26B1	ENST00000546307,p.S98N|uc010yrb.2,p.S98N|NM_001277742,p.S98N|ENST00000474509,p.S98N|ENST00000461519,p.S156N|ENST00000001146,p.S173N|uc010yra.1,p.S156N|NM_019885,p.S173N|uc002sih.2,p.S173N	protein_coding	uc010yrb.2	nonsynonymous SNV	exon2	c.G293A	p.S98N	IQLVIQDTLRAWSSHPEAINVYQEA	IQLVIQDTLRAWNSHPEAINVYQEA	4.0	9.0	-	-	4316_2:72362460-72362460 C>T_IQLVIQDTLRAWNSHPEAINVYQEA
X:140995685-140995685 G>T	0.0	4316	COLON	-	-	-	-	MAGEC1	NM_005462,p.S832I|ENST00000285879,p.S832I|uc022cfi.1,p.S491I|uc004fbt.3,p.S832I	protein_coding	uc022cfi.1	nonsynonymous SNV	exon1	c.G1472T	p.S491I	STSSSLSQSSPVSSFPSSTSSSLSK	STSSSLSQSSPVISFPSSTSSSLSK	1.0	6.0	-	-	4316_X:140995685-140995685 G>T_STSSSLSQSSPVISFPSSTSSSLSK
1:104163246-104163246 A>G	0.0	4316	COLON	-	-	-	-	AMY2A	uc001dut.3,p.Y273C|NM_000699,p.Y273C|ENST00000414303,p.Y273C	protein_coding, processed_transcript	uc001dut.3	nonsynonymous SNV	exon5	c.A818G	p.Y273C	DYFGNGRVTEFKYGAKLGTVIRKWN	DYFGNGRVTEFKCGAKLGTVIRKWN	3.0	5.0	-	-	4316_1:104163246-104163246 A>G_DYFGNGRVTEFKCGAKLGTVIRKWN
12:49730128-49730128 C>T	0.0	4316	COLON	-	-	-	-	C1QL4	uc001rtz.1,p.A45T|NM_001008223,p.A45T|ENST00000334221,p.A45T	protein_coding	uc001rtz.1	nonsynonymous SNV	exon1	c.G133A	p.A45T	DPHGPRGPGPDGAPASVPPFPPGAK	DPHGPRGPGPDGTPASVPPFPPGAK	2.0	1.0	unscreened	-	4316_12:49730128-49730128 C>T_DPHGPRGPGPDGTPASVPPFPPGAK
14:38724883-38724883 C>A	0.0	4316	COLON	-	-	-	-	CLEC14A	ENST00000342213,p.W115C|NM_175060,p.W115C|uc001wum.2,p.W115C	protein_coding	uc001wum.2	nonsynonymous SNV	exon1	c.G345T	p.W115C	CTLENEPLRGFSWLSSDPGGLESDT	CTLENEPLRGFSCLSSDPGGLESDT	3.0	5.0	-	-	4316_14:38724883-38724883 C>A_CTLENEPLRGFSCLSSDPGGLESDT
X:101139223-101139223 G>T	0.0	4316	COLON	-	-	-	-	ZMAT1	uc011mrm.2,p.F221L|NM_001282401,p.F221L|NM_001011657,p.F392L|uc011mrl.2,p.F392L|uc004eim.3,p.F221L|ENST00000540921,p.F392L|ENST00000372782,p.F392L|uc004ein.3,p.F221L|NM_001282400,p.F221L|ENST00000458570,p.F221L	protein_coding, processed_transcript	uc011mrm.2	nonsynonymous SNV	exon9	c.C663A	p.F221L	WLPTHSKRTYDSFQDELEDYIKVQK	WLPTHSKRTYDSLQDELEDYIKVQK	3.0	10.0	-	-	4316_X:101139223-101139223 G>T_WLPTHSKRTYDSLQDELEDYIKVQK
5:127704879-127704879 ->T	0.0	4316	COLON	-	-	-	-	FBN2	ENST00000508053,p.N748fs|uc003kuv.2,p.N715fs|ENST00000508989,p.N715fs|uc003kuu.3,p.N748fs|ENST00000262464,p.N748fs|NM_001999,p.N748fs	retained_intron, protein_coding, processed_transcript	uc003kuv.2	frameshift insertion	exon15	c.2144dupA	p.N715fs	GFGEPCQPCPAKNSAEFHGLCSSGV	GFGEPCQPCPAKKFS	1.0	1.0	unscreened	-	4316_5:127704879-127704879 ->T_GFGEPCQPCPAKKFS
2:210841652-210841652 G>A	0.0	4316	COLON	-	-	-	-	UNC80	NM_032504,p.A2864T|NM_182587,p.A2859T|ENST00000333907,p.A390T|uc010zjc.1,p.A2864T|uc010zje.1,p.A310T|uc021vvx.1,p.A2859T|uc002vdl.1,p.A330T|ENST00000539183,p.A310T|uc010zjd.1,p.A310T|ENST00000272845,p.A2859T|ENST00000439458,p.A2864T	retained_intron, protein_coding, processed_transcript	uc021vvx.1	nonsynonymous SNV	exon57	c.G8575A	p.A2859T	RPFIQCKLLAQPAENHEELSARQHI	RPFIQCKLLAQPTENHEELSARQHI	1.0	2.0	unscreened	-	4316_2:210841652-210841652 G>A_RPFIQCKLLAQPTENHEELSARQHI
7:86416021-86416021 G>A	0.0	4316	COLON	-	-	-	2	GRM3	uc010lef.3,p.A303T|ENST00000536043,p.A177T|uc003uid.3,p.A305T|ENST00000439827,p.A305T|ENST00000394720,p.A303T|NM_000840,p.A305T|uc010leg.3,p.A177T|ENST00000361669,p.A305T	protein_coding	uc010leg.3	nonsynonymous SNV	exon2	c.G529A	p.A177T	ASFTWVASDGWGAQESIIKGSEHVA	ASFTWVASDGWGTQESIIKGSEHVA	1.0	9.0	-	-	4316_7:86416021-86416021 G>A_ASFTWVASDGWGTQESIIKGSEHVA
13:36827969-36827969 G>A	0.0	4316	COLON	0.0041	-	-	-	CCDC169,CCDC169-SOHLH2	ENST00000506800,p.R45C|NM_001144983,p.R45C|ENST00000511166,p.R47C|ENST00000554962,p.R47C|uc010abm.3,p.R147C|uc010tek.2,p.R45C|uc010tei.2,p.R47C|NM_001144986,p.R45C|uc010abo.3,p.R45C|ENST00000510088,p.R45C|NM_001144981,p.R147C|ENST00000491049,p.R45C|NM_001198910,p.R47C|NM_001144982,p.R45C|NM_001144985,p.R45C|uc010tem.2,p.R147C|NM_001198908,p.R147C|uc010tel.2,p.R47C|uc010abn.3,p.R45C|ENST00000503173,p.R147C|ENST00000379864,p.R45C|NM_001144984,p.R47C|ENST00000239860,p.R47C|uc010tej.2,p.R45C|ENST00000239859,p.R147C|ENST00000379862,p.R45C	protein_coding	uc010tem.2	nonsynonymous SNV	exon6	c.C439T	p.R147C	QESKAYQKINNERRTYLAEMSQGSG	QESKAYQKINNECRTYLAEMSQGSG	4.0	4.0	-	-	4316_13:36827969-36827969 G>A_QESKAYQKINNECRTYLAEMSQGSG
X:12736456-12736456 T>G	0.0	4316	COLON	-	-	-	-	FRMPD4	uc011mij.2,p.S1163A|ENST00000380682,p.S1171A|NM_014728,p.S1171A|uc004cuz.2,p.S1171A	protein_coding	uc011mij.2	nonsynonymous SNV	exon17	c.T3487G	p.S1163A	SAKDLDNPEDADSSTCDHPSKLPEA	SAKDLDNPEDADASTCDHPSKLPEA	1.0	2.0	unscreened	-	4316_X:12736456-12736456 T>G_SAKDLDNPEDADASTCDHPSKLPEA
11:75298699-75298699 C>A	0.0	4316	COLON	-	-	-	-	MAP6	ENST00000304771,p.G616V|ENST00000526740,p.G287V|uc001owu.3,p.G616V|NM_033063,p.G616V	protein_coding, processed_transcript	uc001owu.3	nonsynonymous SNV	exon4	c.G1847T	p.G616V	KDQGPIVPAPVKGEGPIVPAPVKDE	KDQGPIVPAPVKVEGPIVPAPVKDE	3.0	2.0	unscreened	-	4316_11:75298699-75298699 C>A_KDQGPIVPAPVKVEGPIVPAPVKDE
13:19748026-19748026 C>G	0.0	4316	COLON	-	-	-	-	TUBA3C	ENST00000400113,p.A444P|NM_006001,p.A444P|uc009zzj.3,p.A444P	protein_coding, processed_transcript	uc009zzj.3	nonsynonymous SNV	exon5	c.G1330C	p.A444P	YEEVGVDSVEAEAEEGEEY	YEEVGVDSVEAEPEEGEEY	1.0	4.0	unscreened	-	4316_13:19748026-19748026 C>G_YEEVGVDSVEAEPEEGEEY
19:21992490-21992490 C>T	0.0	4316	COLON	-	-	-	-	ZNF43	NM_001256650,p.D111N|NM_001256649,p.D111N|uc002nqk.4,p.D52N|NM_001256654,p.D52N|NM_001256651,p.D52N|NM_001256648,p.D111N|uc002nql.4,p.D111N|ENST00000598381,p.D111N|NM_003423,p.D117N|uc031rka.1,p.D126N|NM_001256653,p.D126N|uc010ecv.4,p.D111N|ENST00000599906,p.D52N|uc031rkb.1,p.D52N|ENST00000354959,p.D117N|ENST00000594012,p.D111N|uc002nqj.4,p.D117N|ENST00000595461,p.D111N|uc002nqm.4,p.D111N	retained_intron, protein_coding, processed_transcript	uc031rkb.1	nonsynonymous SNV	exon3	c.G154A	p.D52N	KNCEHKNVHLKKDHKSVDECKVHRG	KNCEHKNVHLKKNHKSVDECKVHRG	9.0	2.0	unscreened	-	4316_19:21992490-21992490 C>T_KNCEHKNVHLKKNHKSVDECKVHRG
13:108518356-108518356 G>A	0.0	4316	COLON	-	-	-	-	FAM155A	NM_001080396,p.R197W|uc001vql.3,p.R197W|ENST00000375915,p.R197W	protein_coding	uc001vql.3	nonsynonymous SNV	exon1	c.C589T	p.R197W	ENADAVCARNWSRGAAGGDGQEVRS	ENADAVCARNWSWGAAGGDGQEVRS	4.0	8.0	-	-	4316_13:108518356-108518356 G>A_ENADAVCARNWSWGAAGGDGQEVRS
2:228771947-228771947 A>T	0.0	4316	COLON	-	-	-	-	DAW1	ENST00000373666,p.I318F	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000373666	nonsynonymous SNV	exon10	c.A952T	p.I318F	ILDSCFDYTGKLIATASADDGVSLC	ILDSCFDYTGKLFATASADDGVSLC	1.0	2.0	unscreened	-	4316_2:228771947-228771947 A>T_ILDSCFDYTGKLFATASADDGVSLC
5:175533088-175533088 G>C	0.0	4316	COLON	-	rs4613734	-	-	FAM153B	uc031smd.1,p.V52L|ENST00000510151,p.V186L|ENST00000515817,p.V186L|uc031smc.1,p.V263L|ENST00000512862,p.V54L|ENST00000253490,p.V263L|uc031sma.1,p.V54L|uc031smb.1,p.V186L|ENST00000508296,p.V186L|NM_001265615,p.V186L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031smd.1	nonsynonymous SNV	exon5	c.G154C	p.V52L	PQRGDLEDLEEHVPGQTVSEEATGV	PQRGDLEDLEEHLPGQTVSEEATGV	5.0	5.0	unscreened	-	4316_5:175533088-175533088 G>C_PQRGDLEDLEEHLPGQTVSEEATGV
2:228771947-228771947 A>T	0.0	4316	COLON	-	-	-	-	DAW1	NM_178821,p.I318F|uc010zlw.1,p.I303F|ENST00000309931,p.I318F|ENST00000545118,p.I303F|uc002vpn.1,p.I318F	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zlw.1	nonsynonymous SNV	exon11	c.A907T	p.I303F	ILDSCFDYTGKLIATASADGTARIF	ILDSCFDYTGKLFATASADGTARIF	1.0	2.0	unscreened	-	4316_2:228771947-228771947 A>T_ILDSCFDYTGKLFATASADGTARIF
13:101844357-101844357 C>T	0.0	4316	COLON	-	-	-	-	NALCN	ENST00000376196,p.V559I|uc001vox.1,p.V559I|uc001voy.3,p.V274I|uc001voz.2,p.V559I|ENST00000251127,p.V559I|uc001vpa.2,p.V559I|NM_052867,p.V559I	retained_intron, protein_coding, processed_transcript	uc001vpa.2	nonsynonymous SNV	exon14	c.G1675A	p.V559I	MFQILTQEGWVDVMDQTLNAVGHMW	MFQILTQEGWVDIMDQTLNAVGHMW	2.0	8.0	-	-	4316_13:101844357-101844357 C>T_MFQILTQEGWVDIMDQTLNAVGHMW
X:53263568-53263568 G>T	0.0	4316	COLON	-	-	-	-	IQSEC2	NM_001111125,p.H1434N|ENST00000375368,p.H1424N|uc004dsd.3,p.H1434N|ENST00000396435,p.H1434N	protein_coding, processed_transcript	uc004dsd.3	nonsynonymous SNV	exon15	c.C4300A	p.H1434N	QSPLSPHSPIPPHPSYPPLPPPSPH	QSPLSPHSPIPPNPSYPPLPPPSPH	4.0	3.0	unscreened	-	4316_X:53263568-53263568 G>T_QSPLSPHSPIPPNPSYPPLPPPSPH
9:42368614-42368614 A>G	0.0	4316	COLON	-	rs200348657	-	-	ANKRD20A2,ANKRD20A3	NM_001012421,p.H67R|uc004acd.3,p.H67R|ENST00000377601,p.H67R|NM_001012419,p.H67R|uc010mmv.3,p.H67R	protein_coding, processed_transcript	uc010mmv.3	nonsynonymous SNV	exon1	c.A200G	p.H67R	RRSGDLDALDKQHRTALHLACASGH	RRSGDLDALDKQRRTALHLACASGH	3.0	8.0	-	-	4316_9:42368614-42368614 A>G_RRSGDLDALDKQRRTALHLACASGH
15:30433067-30433067 G>A	0.0	4316	COLON	-	-	-	-	GOLGA8T	uc021sha.1,p.R192H|ENST00000569052,p.R205H	protein_coding, processed_transcript	uc021sha.1	nonsynonymous SNV	exon9	c.G575A	p.R192H	KKANQLSSRSKARTEWKLEQSMREE	KKANQLSSRSKAHTEWKLEQSMREE	5.0	6.0	-	-	4316_15:30433067-30433067 G>A_KKANQLSSRSKAHTEWKLEQSMREE
9:21239719-21239719 C>A	0.0	4316	COLON	-	-	-	-	IFNA14	uc010mis.3,p.Q72H|NM_002172,p.Q72H|ENST00000380222,p.Q72H	protein_coding	uc010mis.3	nonsynonymous SNV	exon1	c.G216T	p.Q72H	EFPQEEFDGNQFQKAQAISVLHEMM	EFPQEEFDGNQFHKAQAISVLHEMM	1.0	4.0	unscreened	-	4316_9:21239719-21239719 C>A_EFPQEEFDGNQFHKAQAISVLHEMM
1:171621399-171621399 T>C	0.0	4316	COLON	-	-	-	-	MYOC	NM_000261,p.Q118R|ENST00000037502,p.Q118R|uc001ghu.3,p.Q118R	protein_coding	uc001ghu.3	nonsynonymous SNV	exon1	c.A353G	p.Q118R	QAARPQETQEGLQRELGTLRRERDQ	QAARPQETQEGLRRELGTLRRERDQ	1.0	7.0	-	-	4316_1:171621399-171621399 T>C_QAARPQETQEGLRRELGTLRRERDQ
11:5798902-5798902 C>A	0.0	4316	COLON	-	-	-	-	OR52N5	NM_001001922,p.K321N|uc010qzn.2,p.K321N|ENST00000317093,p.K321N	protein_coding	uc010qzn.2	nonsynonymous SNV	exon1	c.G963T	p.K321N	IRKSVIKFFQGDKGAG	IRKSVIKFFQGDNGAG	1.0	9.0	-	-	4316_11:5798902-5798902 C>A_IRKSVIKFFQGDNGAG
7:21947896-21947896 ->T	0.0	4316	COLON	-	-	-	-	CDCA7L	uc010kuk.3,p.T178fs|ENST00000373934,p.T132fs|ENST00000457951,p.T131fs|uc010kul.3,p.T132fs|uc003svf.4,p.T177fs|NM_001127371,p.T132fs|NM_018719,p.T178fs|ENST00000406877,p.T178fs|ENST00000356195,p.T144fs|NM_001127370,p.T144fs|uc003sve.4,p.T144fs	retained_intron, protein_coding, processed_transcript	uc010kul.3	frameshift insertion	exon3	c.394dupA	p.T132fs	LFSSARLQNEKKTILERKKDCRQVI	LFSSARLQNEKKNNS	5.0	1.0	unscreened	-	4316_7:21947896-21947896 ->T_LFSSARLQNEKKNNS
X:134125217-134125217 G>A	0.0	4316	COLON	-	-	-	-	SMIM10	ENST00000330288,p.R31H|uc011mvs.2,p.R31H|NM_001163438,p.R31H	protein_coding	uc011mvs.2	nonsynonymous SNV	exon1	c.G92A	p.R31H	AAALSGLAVRLSRPQGTRGSYGAFC	AAALSGLAVRLSHPQGTRGSYGAFC	1.0	7.0	-	-	4316_X:134125217-134125217 G>A_AAALSGLAVRLSHPQGTRGSYGAFC
7:84642158-84642158 C>A	0.0	4316	COLON	-	-	-	-	SEMA3D	uc010led.3,p.A570S|NM_152754,p.A570S|uc003uib.3,p.A209S|uc003uic.3,p.A570S|ENST00000284136,p.A570S	retained_intron, protein_coding, processed_transcript	uc010led.3	nonsynonymous SNV	exon16	c.G1708T	p.A570S	ACSRYAPTSKRRARRQDVKYGDPIT	ACSRYAPTSKRRSRRQDVKYGDPIT	5.0	2.0	-	-	4316_7:84642158-84642158 C>A_ACSRYAPTSKRRSRRQDVKYGDPIT
13:20716385-20716385 G>A	0.0	4316	COLON	-	-	-	-	GJA3	NM_021954,p.T348M|uc021rgz.1,p.T348M|ENST00000241125,p.T348M|uc001umx.1,p.T348M	protein_coding	uc021rgz.1	nonsynonymous SNV	exon1	c.C1043T	p.T348M	QPPALKAYPAASTPAAPSPVGSSSP	QPPALKAYPAASMPAAPSPVGSSSP	2.0	7.0	-	-	4316_13:20716385-20716385 G>A_QPPALKAYPAASMPAAPSPVGSSSP
13:28494547-28494547 C>A	0.0	4316	COLON	-	-	-	-	PDX1	uc001urt.2,p.A91E|ENST00000381033,p.A91E|NM_000209,p.A91E	protein_coding	uc001urt.2	nonsynonymous SNV	exon1	c.C272A	p.A91E	VAHLHHHLPAQLALPHPPAGPFPEG	VAHLHHHLPAQLELPHPPAGPFPEG	3.0	3.0	-	-	4316_13:28494547-28494547 C>A_VAHLHHHLPAQLELPHPPAGPFPEG
4:145041707-145041707 C>A	0.0	4316	COLON	-	rs7658293	ID=COSM3683233;OCCURENCE=2(thyroid)	-	GYPA	uc031shj.1,p.E24D|uc010ios.2,p.E24D|uc010ioq.3,p.E24D|ENST00000504786,p.E24D|uc003ijn.2,p.E24D|ENST00000512064,p.E24D|ENST00000360771,p.E24D|NM_002099,p.E24D|ENST00000503627,p.E24D|uc003ijo.4,p.E24D|uc003ijp.4,p.E24D	retained_intron, protein_coding, nonsense_mediated_decay	uc031shj.1	nonsynonymous SNV	exon2	c.G72T	p.E24D	SEIVSISALSTTEVAMHTSTSSSVT	SEIVSISALSTTDVAMHTSTSSSVT	1.0	4.0	unscreened	-	4316_4:145041707-145041707 C>A_SEIVSISALSTTDVAMHTSTSSSVT
13:36367569-36367569 C>G	0.0	4316	COLON	-	-	-	-	DCLK1	ENST00000255448,p.K664N|NM_004734,p.K664N|NM_001195415,p.K357N|uc001uve.4,p.K357N|uc010teh.2,p.K357N|uc001uvf.3,p.K664N|ENST00000379893,p.K357N|ENST00000360631,p.K664N|uc010abk.3,p.K184N|NM_001195416,p.K357N	protein_coding, processed_transcript	uc010teh.2	nonsynonymous SNV	exon12	c.G1071C	p.K357N	LPENEHQLSVAGKIKKHFNTGPKPN	LPENEHQLSVAGNIKKHFNTGPKPN	2.0	5.0	-	-	4316_13:36367569-36367569 C>G_LPENEHQLSVAGNIKKHFNTGPKPN
9:111617170-111617170 C>T	0.0	4316	COLON	-	-	-	-	ACTL7B	NM_006686,p.M347I|ENST00000374667,p.M347I|uc004bdi.3,p.M347I	protein_coding	uc004bdi.3	nonsynonymous SNV	exon1	c.G1041A	p.M347I	MAANVLLCGGCTMLDGFPERFQREL	MAANVLLCGGCTILDGFPERFQREL	1.0	3.0	-	-	4316_9:111617170-111617170 C>T_MAANVLLCGGCTILDGFPERFQREL
2:137814208-137814208 G>A	0.0	4316	COLON	-	-	-	-	THSD7B	ENST00000272643,p.A120T|ENST00000413152,p.A89T|ENST00000409968,p.A120T|uc002tva.1,p.A89T	retained_intron, protein_coding, processed_transcript	uc002tva.1	nonsynonymous SNV	exon2	c.G265A	p.A89T	VSDWHHCVLVPYARGEVKPRTAECV	VSDWHHCVLVPYTRGEVKPRTAECV	2.0	8.0	-	-	4316_2:137814208-137814208 G>A_VSDWHHCVLVPYTRGEVKPRTAECV
6:30954870-30954870 T>A	0.0	4316	COLON	-	-	-	-	MUC21	NM_001010909,p.S306R|ENST00000376296,p.S306R|uc021yuf.1,p.S290R|uc003nsh.2,p.S306R	protein_coding	uc021yuf.1	nonsynonymous SNV	exon1	c.T870A	p.S290R	SSGANTATNSESSTTSSGANTATNS	SSGANTATNSESRTTSSGANTATNS	4.0	4.0	-	-	4316_6:30954870-30954870 T>A_SSGANTATNSESRTTSSGANTATNS
13:36788638-36788638 T>C	0.0	4316	COLON	-	-	-	-	SOHLH2	NM_001282147,p.E9G|NM_017826,p.E9G|ENST00000317764,p.E9G|uc001uvj.3,p.E9G|ENST00000379881,p.E9G	protein_coding	uc001uvj.3	nonsynonymous SNV	exon1	c.A26G	p.E9G	MASSIICQEHCQISGQAKIDI	MASSIICQGHCQISGQAKIDI	4.0	3.0	unscreened	-	4316_13:36788638-36788638 T>C_MASSIICQGHCQISGQAKIDI
12:52995213-52995213 G>C	0.0	4316	COLON	-	-	-	-	KRT72	NM_001146225,p.F8L|uc001saq.2,p.F8L|uc010sns.1,p.F8L|NM_001146226,p.F8L|NM_080747,p.F8L|ENST00000537672,p.F8L|ENST00000293745,p.F8L|ENST00000354310,p.F8L|uc001sar.2,p.F8L	protein_coding, nonsense_mediated_decay	uc010sns.1	nonsynonymous SNV	exon1	c.C24G	p.F8L	MSRQLTHFPRGERLGFSGCS	MSRQLTHLPRGERLGFSGCS	1.0	6.0	-	-	4316_12:52995213-52995213 G>C_MSRQLTHLPRGERLGFSGCS
19:14046591-14046591 G>C	0.0	4316	COLON	-	-	-	-	PODNL1	ENST00000254320,p.A71G|uc010xnj.2,p.A151G|uc002mxr.3,p.A153G|NM_001146254,p.A151G|uc010xni.2,p.A71G|NM_024825,p.A153G|ENST00000339560,p.A153G|ENST00000538371,p.A151G	protein_coding, processed_transcript	uc010xnj.2	nonsynonymous SNV	exon5	c.C452G	p.A151G	QFLPRSLRVADLAANQVMEIFPLTF	QFLPRSLRVADLGANQVMEIFPLTF	4.0	5.0	-	-	4316_19:14046591-14046591 G>C_QFLPRSLRVADLGANQVMEIFPLTF
7:100028454-100028454 ->CAA	0.0	4316	COLON	-	-	-	-	MEPCE	uc003uuw.3,p.Q271delinsQQ|ENST00000310512,p.Q271delinsQQ|NM_019606,p.Q271delinsQQ	retained_intron, protein_coding, processed_transcript	uc003uuw.3	nonframeshift insertion	exon1	c.813_814insCAA	p.Q271delinsQQ	GRKRHRHRGQHHQQQQAAGGSESHP	GRKRHRHRGQHHQQQQQAAGGSESH	7.0	3.0	unscreened	-	4316_7:100028454-100028454 ->CAA_GRKRHRHRGQHHQQQQQAAGGSESH
19:17337816-17337820 CGCCC>-	0.0	4316	COLON	-	-	-	-	OCEL1	ENST00000215061,p.A87fs|ENST00000601529,p.A87fs|uc002nfp.3,p.A87fs|ENST00000597836,p.A31fs|NM_024578,p.A87fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nfp.3	frameshift deletion	exon3	c.260_264del	p.A87fs	HPPGPGPPLQGLAPRGLKTSAPRPP	HPPGPGPPLQGLARPQNQRPPPSVPAPAGTPQGKDQEDCV	4.0	5.0	-	-	4316_19:17337816-17337820 CGCCC>-_HPPGPGPPLQGLARPQNQRPPPSVPAPAGTPQGKDQEDCV
3:89390994-89390994 C>T	0.0	4316	COLON	-	-	-	2	EPHA3	uc003dqx.1,p.R354W|NM_182644,p.R354W|uc021xbf.1,p.R354W|NM_005233,p.R354W|uc003dqy.3,p.R354W|ENST00000494014,p.R354W|ENST00000452448,p.R354W|ENST00000336596,p.R354W	protein_coding	uc021xbf.1	nonsynonymous SNV	exon5	c.C1060T	p.R354W	ILDWSWPLDTGGRKDVTFNIICKKC	ILDWSWPLDTGGWKDVTFNIICKKC	2.0	7.0	-	-	4316_3:89390994-89390994 C>T_ILDWSWPLDTGGWKDVTFNIICKKC
4:49000490-49000490 C>G	1.0	4316	COLON	-	-	-	-	CWH43	uc003gyv.3,p.L243V|ENST00000226432,p.L243V|uc011bzl.2,p.L216V|ENST00000513409,p.L216V|NM_001286791,p.L216V|NM_025087,p.L243V	retained_intron, protein_coding, nonsense_mediated_decay	uc011bzl.2	nonsynonymous SNV	exon6	c.C646G	p.L216V	GPDPNPFGGAVLLCLASGLMLPSCL	GPDPNPFGGAVLVCLASGLMLPSCL	4.0	3.0	unscreened	-	4316_4:49000490-49000490 C>G_GPDPNPFGGAVLVCLASGLMLPSCL
6:100061805-100061805 G>A	0.0	4316	COLON	-	-	-	-	PRDM13	ENST00000369215,p.E432K|uc003pqg.1,p.E432K|NM_021620,p.E432K|ENST00000369214,p.E442K	protein_coding	uc003pqg.1	nonsynonymous SNV	exon4	c.G1294A	p.E432K	YAQLPPAPGLPLERCALPPLDPGGL	YAQLPPAPGLPLKRCALPPLDPGGL	1.0	4.0	unscreened	-	4316_6:100061805-100061805 G>A_YAQLPPAPGLPLKRCALPPLDPGGL
4:145041708-145041708 T>C	0.0	4316	COLON	0.4	rs7687256	ID=COSM3683234;OCCURENCE=2(thyroid)	-	GYPA	uc003ijp.4,p.E24G|ENST00000504786,p.E24G|NM_002099,p.E24G|uc031shj.1,p.E24G|uc010ios.2,p.E24G|uc003ijn.2,p.E24G|ENST00000512064,p.E24G|ENST00000503627,p.E24G|uc003ijo.4,p.E24G|ENST00000360771,p.E24G|uc010ioq.3,p.E24G	retained_intron, protein_coding, nonsense_mediated_decay	uc031shj.1	nonsynonymous SNV	exon2	c.A71G	p.E24G	SEIVSISALSTTEVAMHTSTSSSVT	SEIVSISALSTTGVAMHTSTSSSVT	1.0	5.0	unscreened	-	4316_4:145041708-145041708 T>C_SEIVSISALSTTGVAMHTSTSSSVT
5:147019323-147019323 T>C	0.0	4316	COLON	-	-	-	-	JAKMIP2	NM_001282282,p.S426G|NM_014790,p.S468G|uc011dbx.2,p.S426G|ENST00000507386,p.S468G|ENST00000333010,p.S426G|uc003loq.2,p.S468G|NM_001270941,p.S468G|uc010jgo.2,p.S468G|ENST00000265272,p.S468G|NM_001270934,p.S468G|uc003lor.2,p.S468G	retained_intron, protein_coding	uc011dbx.2	nonsynonymous SNV	exon9	c.A1276G	p.S426G	RTPATPDDDLDESLAAEESELRFRQ	RTPATPDDDLDEGLAAEESELRFRQ	3.0	3.0	-	-	4316_5:147019323-147019323 T>C_RTPATPDDDLDEGLAAEESELRFRQ
1:161166023-161166023 C>T	0.0	4316	COLON	-	-	ID=COSM1151885,COSM898518;OCCURENCE=1(endometrium)	-	ADAMTS4	ENST00000367996,p.R343Q|NM_005099,p.R343Q|uc001fyt.4,p.R343Q	protein_coding, processed_transcript	uc001fyt.4	nonsynonymous SNV	exon3	c.G1028A	p.R343Q	GMADVGTVCDPARSCAIVEDDGLQS	GMADVGTVCDPAQSCAIVEDDGLQS	3.0	4.0	unscreened	-	4316_1:161166023-161166023 C>T_GMADVGTVCDPAQSCAIVEDDGLQS
16:14859053-14859053 T>A	0.0	4316	COLON	-	-	-	-	NPIPA2,NPIPA3	NM_001277324,p.L279Q|uc002dct.4,p.L279Q|ENST00000529166,p.L298Q|ENST00000553201,p.L279Q|NM_001277323,p.L279Q	protein_coding	uc002dct.4	nonsynonymous SNV	exon8	c.T836A	p.L279Q	PECLLTPLPPSALPSADDNLKTPAE	PECLLTPLPPSAQPSADDNLKTPAE	10.0	4.0	-	-	4316_16:14859053-14859053 T>A_PECLLTPLPPSAQPSADDNLKTPAE
15:32460449-32460449 G>T	0.0	4316	COLON	-	-	-	-	CHRNA7	NM_000746,p.L433F|uc010bak.3,p.L348F|uc001zft.4,p.L433F|ENST00000455693,p.L252F|uc021sic.2,p.L462F|ENST00000306901,p.L433F|NM_001190455,p.L462F|ENST00000454250,p.L462F|uc010baf.4,p.L252F	protein_coding, nonsense_mediated_decay	uc021sic.2	nonsynonymous SNV	exon10	c.G1386T	p.L462F	LHGGQPPEGDPDLAKILEEVRYIAN	LHGGQPPEGDPDFAKILEEVRYIAN	2.0	5.0	-	-	4316_15:32460449-32460449 G>T_LHGGQPPEGDPDFAKILEEVRYIAN
7:47897291-47897291 G>C	0.0	4316	COLON	-	-	-	-	PKD1L1	uc003tny.2,p.A1501G|NM_138295,p.A1501G|ENST00000289672,p.A1501G	retained_intron, protein_coding, processed_transcript	uc003tny.2	nonsynonymous SNV	exon28	c.C4502G	p.A1501G	VHLPGDLAGHSPAGAETQSPCYISQ	VHLPGDLAGHSPGGAETQSPCYISQ	3.0	4.0	-	-	4316_7:47897291-47897291 G>C_VHLPGDLAGHSPGGAETQSPCYISQ
9:119770381-119770381 G>T	0.0	4316	COLON	-	-	-	-	ASTN2	NM_014010,p.D476E|uc022bml.1,p.D176E|ENST00000373996,p.D527E|ENST00000361209,p.D476E|uc022bmm.1,p.D176E|ENST00000313400,p.D527E|uc004bjt.2,p.D476E|ENST00000373986,p.D254E	protein_coding	uc022bmm.1	nonsynonymous SNV	exon5	c.C528A	p.D176E	GQRTTDACEQLCDPETGECSCHEGY	GQRTTDACEQLCEPETGECSCHEGY	5.0	4.0	-	-	4316_9:119770381-119770381 G>T_GQRTTDACEQLCEPETGECSCHEGY
19:58944704-58944704 T>G	0.0	4316	COLON	-	-	-	-	ZNF132	ENST00000254166,p.K703Q|uc002qst.4,p.K703Q|NM_003433,p.K703Q	retained_intron, protein_coding	uc002qst.4	nonsynonymous SNV	exon3	c.A2107C	p.K703Q	LFSHLCNLAQHKKIHT	LFSHLCNLAQHKQIHT	2.0	4.0	unscreened	-	4316_19:58944704-58944704 T>G_LFSHLCNLAQHKQIHT
19:17397516-17397516 ->GTGT	0.0	4316	COLON	-	-	-	-	ANKLE1	uc010xpn.1,p.C650fs|ENST00000598347,p.C596fs|NM_001278444,p.C650fs	retained_intron, protein_coding, nonsense_mediated_decay	uc010xpn.1	frameshift insertion	exon8	c.1948_1949insGTGT	p.C650fs	CVCVCVCLCVCVCV	CVCVCVCLCVCVCVCV	3.0	3.0	unscreened	-	4316_19:17397516-17397516 ->GTGT_CVCVCVCLCVCVCVCV
7:142562051-142562051 ->CCTCCT	0.0	4316	COLON	-	-	-	-	EPHB6	ENST00000442129,p.P165delinsPSS|uc011kst.2,p.P165delinsPSS|NM_004445,p.P165delinsPSS|uc011ksu.2,p.P165delinsPSS|ENST00000392957,p.P165delinsPSS	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ksu.2	nonframeshift insertion	exon7	c.493_494insCCTCCT	p.P165delinsPSS	TKVDTIAADESFPSSSSSSSSSSSA	TKVDTIAADESFPSSSSSSSSSSSS	3.0	3.0	unscreened	-	4316_7:142562051-142562051 ->CCTCCT_TKVDTIAADESFPSSSSSSSSSSSS
X:122599628-122599628 G>A	0.0	4316	COLON	-	-	-	-	GRIA3	ENST00000542149,p.G810S	protein_coding, processed_transcript	ENST00000542149	nonsynonymous SNV	exon14	c.G2428A	p.G810S	WWYDKGECGSGGGDSKNACKPCSIE	WWYDKGECGSGGSDSKNACKPCSIE	2.0	6.0	-	-	4316_X:122599628-122599628 G>A_WWYDKGECGSGGSDSKNACKPCSIE
X:122599628-122599628 G>A	0.0	4316	COLON	-	-	-	-	GRIA3	ENST00000371251,p.G810S|NM_000828,p.G810S|ENST00000264357,p.G810S|uc004etr.4,p.G810S	protein_coding, processed_transcript	uc004etr.4	nonsynonymous SNV	exon14	c.G2428A	p.G810S	WWYDKGECGSGGGDSKDKTSALSLS	WWYDKGECGSGGSDSKDKTSALSLS	2.0	6.0	-	-	4316_X:122599628-122599628 G>A_WWYDKGECGSGGSDSKDKTSALSLS
3:14106310-14106310 ->CCAGCACCAGCAGTC	0.0	4316	COLON	-	-	-	-	TPRXL	ENST00000424053,p.S212delinsSSTSSP|ENST00000326972,p.S212delinsSSTSSP|ENST00000429201,p.S212delinsSSTSSP|uc003byg.3,p.S212delinsSSTSSP|uc011avd.2,p.S212delinsSSTSSP	protein_coding, processed_transcript	uc011avd.2	nonframeshift insertion	exon3	c.634_635insCCAGCACCAGCAGTC	p.S212delinsSSTSSP	PSPRSSSPSSSSSSTSSPSSSSPSS	PSPRSSSPSSSSSSTSSPSTSSPSS	6.0	5.0	unscreened	-	4316_3:14106310-14106310 ->CCAGCACCAGCAGTC_PSPRSSSPSSSSSSTSSPSTSSPSS
1:247040534-247040534 G>A	1.0	4317	RECTAL	-	-	-	-	AHCTF1	ENST00000391829,p.H911Y|NM_015446,p.H920Y|ENST00000366508,p.H946Y|uc001ibv.2,p.H920Y|ENST00000326225,p.H920Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ibv.2	nonsynonymous SNV	exon22	c.C2758T	p.H920Y	HCNRLNIEELLKHMYEVCQEMGLME	HCNRLNIEELLKYMYEVCQEMGLME	8.0	4.0	-	-	4317_1:247040534-247040534 G>A_HCNRLNIEELLKYMYEVCQEMGLME
11:620134-620134 G>A	1.0	4317	RECTAL	-	-	-	-	CDHR5	uc009ycd.3,p.P304L|NM_031264,p.P304L|ENST00000358353,p.P304L|uc001lqk.3,p.P304L|uc001lqj.3,p.P304L|uc009ycc.3,p.P138L|NM_001171968,p.P304L|ENST00000397542,p.P304L|NM_021924,p.P304L|uc009yce.1,p.P273L|uc001lqm.2,p.P138L|ENST00000349570,p.P304L|uc001lql.3,p.P304L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009yce.1	nonsynonymous SNV	exon8	c.C818T	p.P273L	FRGNVNGTFIIHPDSGNLTVARSVP	FRGNVNGTFIIHLDSGNLTVARSVP	10.0	8.0	-	-	4317_11:620134-620134 G>A_FRGNVNGTFIIHLDSGNLTVARSVP
21:34963489-34963489 T>G	1.0	4317	RECTAL	-	-	-	-	CRYZL1	NM_145858,p.K310T|ENST00000381554,p.K310T|uc021wio.1,p.K310T|ENST00000290244,p.K295T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wio.1	nonsynonymous SNV	exon12	c.A929C	p.K310T	GKYLCILKDVMEKLSTGVFRPQLDE	GKYLCILKDVMETLSTGVFRPQLDE	9.0	1.0	-	-	4317_21:34963489-34963489 T>G_GKYLCILKDVMETLSTGVFRPQLDE
16:69729078-69729078 C>T	1.0	4317	RECTAL	-	-	-	-	NFAT5	ENST00000566899,p.P1391L|ENST00000393742,p.P1391L|NM_173214,p.P1391L|NM_138713,p.P1485L|NM_001113178,p.P1484L|uc002exl.2,p.P1485L|NM_138714,p.P1391L|uc002exm.2,p.P1467L|ENST00000565301,p.P77L|uc002exi.3,p.P1391L|ENST00000349945,p.P1391L|NM_006599,p.P1467L|NM_173215,p.P1391L|ENST00000354436,p.P1467L|uc002exn.2,p.P1484L|ENST00000432919,p.P1485L|ENST00000567239,p.P1484L|uc002exj.2,p.P1391L|uc002exk.2,p.P1391L	retained_intron, protein_coding, nonsense_mediated_decay	uc002exn.2	nonsynonymous SNV	exon14	c.C4451T	p.P1484L	CSQLLTSGPATLPDQLMAISQPGQP	CSQLLTSGPATLLDQLMAISQPGQP	10.0	10.0	-	-	4317_16:69729078-69729078 C>T_CSQLLTSGPATLLDQLMAISQPGQP
5:112162917-112162917 ->T	1.0	4317	RECTAL	-	-	-	1	APC	ENST00000512211,p.N507fs|ENST00000508376,p.N507fs|uc003kpy.4,p.N507fs|ENST00000507379,p.N489fs|NM_001127511,p.N489fs|uc003kpz.4,p.N507fs|NM_000038,p.N507fs|NM_001127510,p.N507fs|ENST00000504915,p.N70fs|uc011cvt.2,p.N489fs|ENST00000457016,p.N507fs|uc010jbz.3,p.N224fs|ENST00000257430,p.N507fs	 processed_transcript,retained_intron, protein_coding, nonsense_mediated_decay	uc011cvt.2	frameshift insertion	exon10	c.1468dupT	p.N489fs	ITLRRYAGMALTNLTFGDVANKATL	ITLRRYAGMALTNFDFWRCSQQGYAMLYERLHESTCGPTKI	8.0	10.0	-	-	4317_5:112162917-112162917 ->T_ITLRRYAGMALTNFDFWRCSQQGYAMLYERLHESTCGPTKI
3:172098882-172098882 A>T	1.0	4317	RECTAL	-	-	-	-	FNDC3B	ENST00000336824,p.Q1101L|NM_001135095,p.Q1101L|ENST00000416957,p.Q1101L|uc003fhz.4,p.Q1101L|NM_022763,p.Q1101L|uc003fhy.3,p.Q1101L|ENST00000415807,p.Q1101L	retained_intron, protein_coding, processed_transcript	uc003fhz.4	nonsynonymous SNV	exon25	c.A3302T	p.Q1101L	LQVLVGRESEYKQVYKGEEATFQIS	LQVLVGRESEYKLVYKGEEATFQIS	10.0	4.0	-	-	4317_3:172098882-172098882 A>T_LQVLVGRESEYKLVYKGEEATFQIS
2:48738537-48738537 A>T	1.0	4317	RECTAL	-	-	-	-	PPP1R21	uc002rwk.3,p.H737L|uc002rwm.3,p.H748L|NM_001193475,p.H706L|ENST00000294952,p.H748L|uc010yok.2,p.H706L|NM_001135629,p.H748L|ENST00000281394,p.H737L|ENST00000449090,p.H706L|uc002rwl.3,p.H702L|NM_152994,p.H737L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yok.2	nonsynonymous SNV	exon19	c.A2117T	p.H706L	RSYEDQLSMMSDHLCSMNETLSKQR	RSYEDQLSMMSDLLCSMNETLSKQR	7.0	1.0	-	-	4317_2:48738537-48738537 A>T_RSYEDQLSMMSDLLCSMNETLSKQR
2:131897821-131897821 G>T	1.0	4317	RECTAL	-	-	-	-	PLEKHB2	uc031rpj.1,p.A118S|ENST00000538982,p.A121S|uc010zao.2,p.A119S|uc002tsg.4,p.A169S|uc002tsf.4,p.A177S|NM_017958,p.A168S|NM_001267065,p.A177S|ENST00000403716,p.A169S|ENST00000234115,p.A168S|uc002tsj.4,p.A168S|NM_001267064,p.A176S|uc031rpg.1,p.A119S|ENST00000409279,p.A169S|ENST00000409158,p.A177S|uc031rpi.1,p.A176S|NM_001100623,p.A169S|uc002tsi.4,p.A210S|ENST00000409612,p.A169S|uc031rpe.1,p.A87S	retained_intron, protein_coding, processed_transcript	uc031rpj.1	nonsynonymous SNV	exon6	c.G352T	p.A118S	TQVVYAANGQAYAVPYQYPYAGLYG	TQVVYAANGQAYSVPYQYPYAGLYG	8.0	8.0	-	-	4317_2:131897821-131897821 G>T_TQVVYAANGQAYSVPYQYPYAGLYG
2:242738553-242738553 T>G	1.0	4317	RECTAL	-	-	-	-	GAL3ST2	ENST00000192314,p.L35V|NM_022134,p.L35V|uc002wcj.1,p.L35V	protein_coding	uc002wcj.1	nonsynonymous SNV	exon2	c.T103G	p.L35V	TLLLLAGFLHSDLELDTPLFGGQAE	TLLLLAGFLHSDVELDTPLFGGQAE	9.0	4.0	-	-	4317_2:242738553-242738553 T>G_TLLLLAGFLHSDVELDTPLFGGQAE
10:101502996-101502996 C>T	1.0	4317	RECTAL	-	-	ID=COSM1702882;OCCURENCE=1(skin)	-	CUTC	uc010qpk.2,p.R94C|ENST00000370476,p.R94C|ENST00000471520,p.R94C|ENST00000370472,p.R31C|uc001kqd.4,p.R94C|NM_015960,p.R94C	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qpk.2	nonsynonymous SNV	exon4	c.C280T	p.R94C	IRPRGGDFLYSDREIEVMKADIRLA	IRPRGGDFLYSDCEIEVMKADIRLA	8.0	8.0	-	-	4317_10:101502996-101502996 C>T_IRPRGGDFLYSDCEIEVMKADIRLA
12:112143554-112143554 G>A	1.0	4317	RECTAL	-	-	ID=COSM1511172;OCCURENCE=1(skin),1(lung)	-	ACAD10	NM_025247,p.V117M|ENST00000455480,p.V117M|uc001tsq.3,p.V117M|uc001tsp.3,p.V117M|uc001tso.4,p.V117M|ENST00000549590,p.V117M|uc009zvw.2,p.V117M|uc009zvx.3,p.V117M|NM_001136538,p.V117M|ENST00000313698,p.V117M	retained_intron, protein_coding, processed_transcript	uc009zvx.3	nonsynonymous SNV	exon4	c.G349A	p.V117M	FGRLCSEMLKTSVPVDSFFSLLTSE	FGRLCSEMLKTSMPVDSFFSLLTSE	8.0	10.0	-	-	4317_12:112143554-112143554 G>A_FGRLCSEMLKTSMPVDSFFSLLTSE
9:131250276-131250276 C>T	1.0	4317	RECTAL	-	-	-	-	ODF2	uc004bva.3,p.A547V|NM_153439,p.A528V|NM_153440,p.A484V|NM_001242352,p.A498V|NM_153433,p.A503V|uc004bvc.3,p.A567V|uc011mbf.2,p.A484V|uc022boj.1,p.A528V|uc004bve.3,p.A484V|NM_153432,p.A547V|ENST00000393533,p.A503V|ENST00000372791,p.A484V|ENST00000303890,p.A479V|uc011mbc.2,p.A422V|ENST00000546203,p.A484V|ENST00000372807,p.A498V|NM_153435,p.A567V|uc011maz.2,p.A503V|NM_153437,p.A484V|NM_002540,p.A479V|ENST00000448249,p.A422V|NM_001242353,p.A503V|ENST00000434106,p.A503V|ENST00000444119,p.A479V|uc011mbd.2,p.A503V|uc011mbe.2,p.A498V|ENST00000372796,p.A503V|uc004bvb.3,p.A479V|NM_001242354,p.A422V|ENST00000372814,p.A547V|ENST00000351030,p.A498V|NM_153436,p.A503V|uc004bvd.4,p.A503V	protein_coding, processed_transcript, nonsense_mediated_decay	uc022boj.1	nonsynonymous SNV	exon13	c.C1583T	p.A528V	VERLHRQTAEYSAFKLENERLKASF	VERLHRQTAEYSVFKLENERLKASF	9.0	9.0	-	-	4317_9:131250276-131250276 C>T_VERLHRQTAEYSVFKLENERLKASF
19:56104127-56104127 G>A	1.0	4317	RECTAL	-	-	-	-	FIZ1	uc002qlj.4,p.R394W|NM_032836,p.R394W|ENST00000221665,p.R394W|uc002qli.4,p.R394W	protein_coding	uc002qlj.4	nonsynonymous SNV	exon2	c.C1180T	p.R394W	GEGGGEEAATAAREREPASGEPPSG	GEGGGEEAATAAWEREPASGEPPSG	5.0	9.0	unscreened	-	4317_19:56104127-56104127 G>A_GEGGGEEAATAAWEREPASGEPPSG
19:14580771-14580771 A>C	1.0	4317	RECTAL	-	-	-	-	PKN1	ENST00000342216,p.K761T|NM_002741,p.K755T|ENST00000242783,p.K755T|NM_213560,p.K761T|uc002myp.3,p.K755T|uc002myq.3,p.K761T|ENST00000591461,p.K159T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002myq.3	nonsynonymous SNV	exon18	c.A2282C	p.K761T	LDNLLLDTEGYVKIADFGLCKEGMG	LDNLLLDTEGYVTIADFGLCKEGMG	8.0	2.0	-	-	4317_19:14580771-14580771 A>C_LDNLLLDTEGYVTIADFGLCKEGMG
20:60926988-60926988 G>A	1.0	4317	RECTAL	-	-	-	-	LAMA5	ENST00000370677,p.R279W|NM_005560,p.R279W|ENST00000252999,p.R279W|ENST00000370692,p.R279W|uc002ycq.3,p.R279W|uc021wfw.1,p.R279W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wfw.1	nonsynonymous SNV	exon5	c.C835T	p.R279W	NTLLGHLMGKALRDPTVTRRYYYSI	NTLLGHLMGKALWDPTVTRRYYYSI	10.0	10.0	-	-	4317_20:60926988-60926988 G>A_NTLLGHLMGKALWDPTVTRRYYYSI
2:131897821-131897821 G>T	1.0	4317	RECTAL	-	-	-	-	PLEKHB2	NM_001267062,p.A169S|NM_001267063,p.A168S|uc031rpd.1,p.A169S|uc031rph.1,p.A168S	retained_intron, protein_coding, processed_transcript	uc031rph.1	nonsynonymous SNV	exon7	c.G502T	p.A168S	TQVVYAANGQAYAVPYQYPYAETIL	TQVVYAANGQAYSVPYQYPYAETIL	8.0	8.0	-	-	4317_2:131897821-131897821 G>T_TQVVYAANGQAYSVPYQYPYAETIL
6:21595145-21595145 A>C	1.0	4317	RECTAL	-	-	-	-	SOX4	NM_003107,p.K127T|uc003ndi.3,p.K127T|ENST00000543472,p.K127T|ENST00000244745,p.K127T	protein_coding	uc003ndi.3	nonsynonymous SNV	exon1	c.A380C	p.K127T	LRLKHMADYPDYKYRPRKKVKSGNA	LRLKHMADYPDYTYRPRKKVKSGNA	9.0	2.0	-	-	4317_6:21595145-21595145 A>C_LRLKHMADYPDYTYRPRKKVKSGNA
13:25016762-25016762 G>A	0.0	4317	RECTAL	-	rs113301501	-	-	PARP4	uc001upl.3,p.T1170I|NM_006437,p.T1170I|ENST00000381989,p.T1170I	retained_intron, protein_coding, processed_transcript	uc001upl.3	nonsynonymous SNV	exon29	c.C3509T	p.T1170I	LIIKLSKENSLITQFTSFVAVEKRD	LIIKLSKENSLIIQFTSFVAVEKRD	10.0	8.0	-	-	4317_13:25016762-25016762 G>A_LIIKLSKENSLIIQFTSFVAVEKRD
12:52200078-52200078 C>T	1.0	4317	RECTAL	-	-	-	-	SCN8A	uc010snl.3,p.A1562V|ENST00000354534,p.A1603V|ENST00000545061,p.A1562V|NM_001177984,p.A1562V|uc001ryw.4,p.A1603V|NM_014191,p.A1603V	protein_coding, processed_transcript	uc010snl.3	nonsynonymous SNV	exon26	c.C4685T	p.A1562V	VVVILSIVGMFLADIIEKYFVSPTL	VVVILSIVGMFLVDIIEKYFVSPTL	7.0	8.0	-	-	4317_12:52200078-52200078 C>T_VVVILSIVGMFLVDIIEKYFVSPTL
17:25930892-25930892 C>T	1.0	4317	RECTAL	-	-	-	-	KSR1	ENST00000509603,p.P515S|ENST00000398982,p.P250S|uc002gzm.3,p.P179S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gzm.3	nonsynonymous SNV	exon7	c.C535T	p.P179S	PDISAFAHAAPLPEAADGTRLDDQP	PDISAFAHAAPLSEAADGTRLDDQP	10.0	9.0	-	-	4317_17:25930892-25930892 C>T_PDISAFAHAAPLSEAADGTRLDDQP
17:25930892-25930892 C>T	1.0	4317	RECTAL	-	-	-	-	KSR1	ENST00000268763,p.P400S|NM_014238,p.P400S|uc031qzj.1,p.P400S|ENST00000398988,p.P400S|ENST00000319524,p.P537S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qzj.1	nonsynonymous SNV	exon11	c.C1198T	p.P400S	FNISAFAHAAPLPEAADGTRLDDQP	FNISAFAHAAPLSEAADGTRLDDQP	10.0	9.0	-	-	4317_17:25930892-25930892 C>T_FNISAFAHAAPLSEAADGTRLDDQP
18:694320-694320 C>A	1.0	4317	RECTAL	-	-	-	-	ENOSF1	ENST00000383578,p.K26N|uc002kkt.4,p.K26N|NM_001126123,p.K26N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kkt.4	nonsynonymous SNV	exon3	c.G78T	p.K26N	LWEKALKLIGPEKGVVHLATAAVLN	LWEKALKLIGPENGVVHLATAAVLN	10.0	5.0	unscreened	-	4317_18:694320-694320 C>A_LWEKALKLIGPENGVVHLATAAVLN
18:694320-694320 C>A	1.0	4317	RECTAL	-	-	-	-	ENOSF1	ENST00000580982,p.G70W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000580982	nonsynonymous SNV	exon3	c.G208T	p.G70W	LGKGTEVDWSRKGRGAPGDSGRPKR	LGKGTEVDWSRKWRGAPGDSGRPKR	10.0	5.0	unscreened	-	4317_18:694320-694320 C>A_LGKGTEVDWSRKWRGAPGDSGRPKR
7:94791201-94791201 G>A	1.0	4317	RECTAL	-	-	-	-	PPP1R9A	NM_001166161,p.V558M|uc011kig.2,p.V558M|uc003unq.3,p.V558M|uc003unp.3,p.V558M|uc010lfj.3,p.V558M|ENST00000289495,p.V558M|NM_001166162,p.V558M|ENST00000456331,p.V558M|ENST00000340694,p.V558M|ENST00000424654,p.V558M|ENST00000433360,p.V558M|NM_017650,p.V558M|uc011kif.2,p.V558M|ENST00000433881,p.V558M|NM_001166163,p.V558M|NM_001166160,p.V558M	protein_coding	uc011kig.2	nonsynonymous SNV	exon4	c.G1672A	p.V558M	QRDGRIQVNDQIVEVDGISLVGVTQ	QRDGRIQVNDQIMEVDGISLVGVTQ	6.0	6.0	-	-	4317_7:94791201-94791201 G>A_QRDGRIQVNDQIMEVDGISLVGVTQ
16:14859247-14859247 C>T	1.0	4317	RECTAL	-	rs1059233	-	-	NPIPA2,NPIPA3	uc002dct.4,p.R344W|ENST00000529166,p.R363W|NM_001277324,p.R344W|ENST00000553201,p.R344W|NM_001277323,p.R344W	protein_coding	uc002dct.4	nonsynonymous SNV	exon8	c.C1030T	p.R344W	PKCVCSLPFHPQRMIISRN	PKCVCSLPFHPQWMIISRN	10.0	1.0	-	-	4317_16:14859247-14859247 C>T_PKCVCSLPFHPQWMIISRN
7:780522-780522 T>G	1.0	4317	RECTAL	-	-	-	-	HEATR2	uc003siz.2,p.F151V|ENST00000313147,p.F283V|uc010krz.1,p.F283V|NM_017802,p.F283V|ENST00000297440,p.F283V	retained_intron, protein_coding, processed_transcript	uc010krz.1	nonsynonymous SNV	exon3	c.T847G	p.F283V	GWLLCLRDRYSFFHKLIPLLLSSLN	GWLLCLRDRYSFVHKLIPLLLSSLN	9.0	1.0	-	-	4317_7:780522-780522 T>G_GWLLCLRDRYSFVHKLIPLLLSSLN
3:178928067-178928067 C>A	1.0	4317	RECTAL	-	-	ID=COSM18601,COSM1670714;OCCURENCE=1(large_intestine)	1	PIK3CA	ENST00000263967,p.P449T|uc003fjk.3,p.P449T|NM_006218,p.P449T	retained_intron, protein_coding	uc003fjk.3	nonsynonymous SNV	exon8	c.C1345A	p.P449T	VSGKMALNLWPVPHGLEDLLNPIGV	VSGKMALNLWPVTHGLEDLLNPIGV	7.0	10.0	CD8	-	4317_3:178928067-178928067 C>A_VSGKMALNLWPVTHGLEDLLNPIGV
19:56934532-56934532 A>G	1.0	4317	RECTAL	-	-	-	-	ZNF583	uc010ygl.1,p.T169A|ENST00000333201,p.T169A|NM_001159861,p.T169A|ENST00000291598,p.T169A|uc010ygm.1,p.T169A|NM_152478,p.T169A|uc002qnc.2,p.T169A|NM_001159860,p.T169A	retained_intron, protein_coding, processed_transcript	uc010ygm.1	nonsynonymous SNV	exon5	c.A505G	p.T169A	EYNKSWQTFHQDTIFDIQQSFPTKE	EYNKSWQTFHQDAIFDIQQSFPTKE	5.0	6.0	-	-	4317_19:56934532-56934532 A>G_EYNKSWQTFHQDAIFDIQQSFPTKE
5:16703173-16703173 C>A	1.0	4317	RECTAL	-	-	-	-	MYO10	uc011cne.2,p.A148S|uc011cnd.2,p.A148S|uc010itx.3,p.A414S|ENST00000515803,p.A130S|ENST00000513610,p.A791S|ENST00000513882,p.A802S|ENST00000274203,p.A148S|uc003jft.4,p.A791S|NM_012334,p.A791S|ENST00000427430,p.A148S|ENST00000505695,p.A130S	retained_intron, protein_coding, processed_transcript	uc011cne.2	nonsynonymous SNV	exon5	c.G442T	p.A148S	FLLRRRFLHLKKAAIVFQKQLRGQI	FLLRRRFLHLKKSAIVFQKQLRGQI	10.0	7.0	-	-	4317_5:16703173-16703173 C>A_FLLRRRFLHLKKSAIVFQKQLRGQI
5:112175349-112175350 AA>-	1.0	4317	RECTAL	-	-	ID=COSM235683;OCCURENCE=1(large_intestine)	1	APC	NM_001127511,p.E1335fs|ENST00000508376,p.E1353fs|ENST00000257430,p.E1353fs|uc010jca.3,p.E653fs|uc010jbz.3,p.E1070fs|uc011cvt.2,p.E1335fs|NM_001127510,p.E1353fs|uc003kpy.4,p.E1353fs|NM_000038,p.E1353fs|uc003kpz.4,p.E1353fs|ENST00000457016,p.E1353fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cvt.2	frameshift deletion	exon14	c.4004_4005del	p.E1335fs	SLSSESARHKAVEFSSGAKSPSKSG	SLSSESARHKAVVFFRSEISLQKWCSDTQKST	8.0	9.0	-	-	4317_5:112175349-112175350 AA>-_SLSSESARHKAVVFFRSEISLQKWCSDTQKST
3:37493890-37493890 G>A	1.0	4317	RECTAL	-	-	-	-	ITGA9	ENST00000264741,p.G9S|uc003chd.3,p.G9S|ENST00000422441,p.G9S|uc003chc.3,p.G9S|NM_002207,p.G9S	retained_intron, protein_coding	uc003chd.3	nonsynonymous SNV	exon1	c.G25A	p.G9S	MGGPAAPRGAGRLRALLLALV	MGGPAAPRSAGRLRALLLALV	10.0	7.0	-	-	4317_3:37493890-37493890 G>A_MGGPAAPRSAGRLRALLLALV
19:17435774-17435774 T>C	1.0	4317	RECTAL	-	-	-	-	ANO8	ENST00000159087,p.K1028R|NM_020959,p.K1028R|uc002ngf.2,p.K1028R	retained_intron, protein_coding, nonsense_mediated_decay	uc002ngf.2	nonsynonymous SNV	exon17	c.A3083G	p.K1028R	GSDTRLPAFLSFKFLKSPETRRDSE	GSDTRLPAFLSFRFLKSPETRRDSE	6.0	3.0	-	-	4317_19:17435774-17435774 T>C_GSDTRLPAFLSFRFLKSPETRRDSE
X:153670602-153670602 A>C	1.0	4317	RECTAL	-	-	-	-	GDI1	ENST00000447750,p.K379T|uc004flj.3,p.K44T|uc004fli.4,p.K379T|NM_001493,p.K379T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004flj.3	nonsynonymous SNV	exon1	c.A131C	p.K44T	EPALELLEPIDQKFVAISDLYEPID	EPALELLEPIDQTFVAISDLYEPID	10.0	4.0	-	-	4317_X:153670602-153670602 A>C_EPALELLEPIDQTFVAISDLYEPID
15:43827480-43827480 C>T	1.0	4317	RECTAL	-	-	-	-	PPIP5K1	uc001zry.4,p.E1207K|ENST00000396923,p.E1232K|uc021sjw.1,p.E1207K|ENST00000334933,p.E1207K|NM_014659,p.E1207K|NM_001130859,p.E1207K|ENST00000381879,p.E1208K|ENST00000360301,p.E1207K|NM_001130858,p.E1232K|ENST00000360135,p.E1205K|ENST00000420765,p.E1232K|NM_001190214,p.E1205K|ENST00000348806,p.E1205K|ENST00000381885,p.E1228K|uc001zrw.3,p.E1232K|uc001zrx.2,p.E1205K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021sjw.1	nonsynonymous SNV	exon29	c.G3619A	p.E1207K	SGAQELSIEGEQELFEPNQSPQVPP	SGAQELSIEGEQKLFEPNQSPQVPP	10.0	7.0	-	-	4317_15:43827480-43827480 C>T_SGAQELSIEGEQKLFEPNQSPQVPP
16:8989522-8989522 T>A	1.0	4317	RECTAL	-	-	-	-	USP7	ENST00000535863,p.T867S|ENST00000344836,p.T966S|NM_001286457,p.T950S|NM_001286458,p.T867S|uc002czl.2,p.T966S|uc010uyj.1,p.T867S|ENST00000563085,p.T867S|NM_003470,p.T966S|ENST00000381886,p.T950S|uc010uyk.1,p.T867S|uc002czk.2,p.T950S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uyk.1	nonsynonymous SNV	exon28	c.A2599T	p.T867S	QEDELLECLSPATSRTFRIEEIPLD	QEDELLECLSPASSRTFRIEEIPLD	10.0	2.0	-	-	4317_16:8989522-8989522 T>A_QEDELLECLSPASSRTFRIEEIPLD
18:694321-694321 T>C	1.0	4317	RECTAL	-	-	-	-	ENOSF1	ENST00000383578,p.K26R|NM_001126123,p.K26R|uc002kkt.4,p.K26R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kkt.4	nonsynonymous SNV	exon3	c.A77G	p.K26R	LWEKALKLIGPEKGVVHLATAAVLN	LWEKALKLIGPERGVVHLATAAVLN	10.0	5.0	unscreened	-	4317_18:694321-694321 T>C_LWEKALKLIGPERGVVHLATAAVLN
11:72466165-72466165 G>A	1.0	4317	RECTAL	-	-	-	-	STARD10	uc001otb.3,p.A218V|uc001ota.3,p.A172V|NM_006645,p.A218V|uc001osz.4,p.A218V|uc001osy.3,p.A218V	-	uc001otb.3	nonsynonymous SNV	exon7	c.C653T	p.A218V	FLAPKAMKKMYKACLKYPEWKQKHL	FLAPKAMKKMYKVCLKYPEWKQKHL	10.0	2.0	-	-	4317_11:72466165-72466165 G>A_FLAPKAMKKMYKVCLKYPEWKQKHL
20:44589304-44589304 G>A	1.0	4317	RECTAL	0.0005	-	-	-	ZNF335	ENST00000322927,p.T578M|uc002xqw.3,p.T578M|NM_022095,p.T578M|ENST00000426788,p.T423M|uc010zxk.2,p.T423M	protein_coding, processed_transcript	uc010zxk.2	nonsynonymous SNV	exon9	c.C1268T	p.T423M	VCGRVYPMQKRLTQHMKTHSTEKPH	VCGRVYPMQKRLMQHMKTHSTEKPH	8.0	9.0	-	-	4317_20:44589304-44589304 G>A_VCGRVYPMQKRLMQHMKTHSTEKPH
16:28617443-28617443 T>C	1.0	4317	RECTAL	-	-	-	-	SULT1A1	uc002dqn.3,p.M328V|uc002dqk.3,p.M237V|NM_177534,p.M237V|NM_177530,p.M237V|ENST00000569554,p.M237V|NM_177536,p.M159V|uc002dqi.3,p.M237V|ENST00000566189,p.M237V|ENST00000314752,p.M237V|ENST00000395609,p.M237V|uc002dqp.3,p.M237V|ENST00000350842,p.M159V|uc002dql.3,p.M237V|uc002dqm.3,p.M159V|uc002dqj.3,p.M237V|ENST00000395607,p.M237V|NM_001055,p.M237V|NM_177529,p.M237V	retained_intron, protein_coding, nonsense_mediated_decay	uc002dqp.3	nonsynonymous SNV	exon9	c.A709G	p.M237V	QHTSFKEMKKNPMTNYTTVPQEFMD	QHTSFKEMKKNPVTNYTTVPQEFMD	10.0	10.0	-	-	4317_16:28617443-28617443 T>C_QHTSFKEMKKNPVTNYTTVPQEFMD
1:155104084-155104086 AAG>-	1.0	4317	RECTAL	-	-	-	-	EFNA1	NM_182685,p.121_122del|ENST00000368406,p.121_122del|uc001fhi.3,p.121_122del	protein_coding, processed_transcript	uc001fhi.3	nonframeshift deletion	exon2	c.362_364del	p.121_122del	QRFTPFTLGKEFKEGHSYYYISHSP	QRFTPFTLGKEFKGHSYYYISHSPQ	10.0	7.0	-	-	4317_1:155104084-155104086 AAG>-_QRFTPFTLGKEFKGHSYYYISHSPQ
11:6411896-6411896 G>A	1.0	4317	RECTAL	-	-	-	-	SMPD1	NM_000543,p.G23E|NM_001007593,p.G23E|ENST00000533123,p.G23E|ENST00000356761,p.G23E|ENST00000299397,p.G23E|ENST00000531303,p.G23E|ENST00000342245,p.G23E|ENST00000534405,p.G23E|uc001mcw.3,p.G23E|uc021qcz.1,p.G23E|ENST00000527275,p.G23E|uc009yew.3,p.G23E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qcz.1	nonsynonymous SNV	exon1	c.G68A	p.G23E	SCPRSGREQGQDGTAGAPGLLWMGL	SCPRSGREQGQDETAGAPGLLWMGL	7.0	5.0	-	-	4317_11:6411896-6411896 G>A_SCPRSGREQGQDETAGAPGLLWMGL
18:3457446-3457446 A>-	1.0	4317	RECTAL	-	-	-	-	TGIF1	NM_001278686,p.T89fs|ENST00000401449,p.T89fs|ENST00000549780,p.T89fs|NM_173208,p.T109fs|NM_170695,p.T238fs|uc002kma.3,p.T89fs|ENST00000549546,p.T89fs|NM_173207,p.T123fs|NM_003244,p.T109fs|ENST00000343820,p.T109fs|ENST00000400167,p.T89fs|uc002klv.3,p.T123fs|ENST00000345133,p.T89fs|NM_001278682,p.T112fs|NM_173210,p.T89fs|uc002kly.3,p.T109fs|ENST00000472042,p.T89fs|NM_001278684,p.T109fs|ENST00000548489,p.T123fs|uc002kmc.3,p.T89fs|NM_173211,p.T89fs|uc002klw.3,p.T109fs|uc002klu.3,p.T89fs|ENST00000551541,p.T89fs|NM_173209,p.T89fs|ENST00000407501,p.T109fs|ENST00000405385,p.T89fs|NM_174886,p.T89fs|ENST00000330513,p.T238fs|ENST00000551333,p.T89fs|ENST00000550958,p.T89fs|uc002klz.3,p.T238fs|uc002kmb.3,p.T89fs|uc002klx.3,p.T89fs|ENST00000552383,p.T89fs|ENST00000549468,p.T89fs	retained_intron, protein_coding, processed_transcript	uc002kmc.3	frameshift deletion	exon2	c.267delA	p.T89fs	MLRKDGKDPNQFTISRRGAKISETS	MLRKDGKDPNQFTFPAVGPRFLKRALWSP	10.0	10.0	-	-	4317_18:3457446-3457446 A>-_MLRKDGKDPNQFTFPAVGPRFLKRALWSP
X:40572273-40572273 C>G	1.0	4317	RECTAL	-	-	-	-	MED14	uc004dex.4,p.R225P|NM_004229,p.R225P|ENST00000324817,p.R225P|uc010nhe.1,p.R109P	protein_coding, processed_transcript	uc010nhe.1	nonsynonymous SNV	exon6	c.G326C	p.R109P	ANLTVANGRVKFRVEGEFEATLTVM	ANLTVANGRVKFPVEGEFEATLTVM	10.0	2.0	-	-	4317_X:40572273-40572273 C>G_ANLTVANGRVKFPVEGEFEATLTVM
11:102033199-102033199 G>C	1.0	4317	RECTAL	-	-	-	-	YAP1	ENST00000345877,p.Q195H|NM_001282100,p.Q195H|NM_001282097,p.Q195H|ENST00000531439,p.Q195H|uc001pgt.3,p.Q195H|NM_001130145,p.Q195H|uc010ruo.2,p.Q17H|uc001pgw.2,p.Q17H|uc021qpf.1,p.Q195H|NM_001282101,p.Q195H|ENST00000526343,p.Q195H|NM_001195044,p.Q195H|NM_006106,p.Q195H|NM_001282098,p.Q195H|NM_001282099,p.Q195H|ENST00000537274,p.Q195H|uc001pgu.3,p.Q195H|uc001pgv.3,p.Q195H|ENST00000282441,p.Q195H|NM_001195045,p.Q17H|ENST00000524575,p.Q17H	retained_intron, protein_coding, processed_transcript	uc021qpf.1	nonsynonymous SNV	exon3	c.G585C	p.Q195H	SSGQRYFLNHIDQTTTWQDPRKAML	SSGQRYFLNHIDHTTTWQDPRKAML	10.0	2.0	-	-	4317_11:102033199-102033199 G>C_SSGQRYFLNHIDHTTTWQDPRKAML
X:76872191-76872191 T>A	0.0	4317	RECTAL	-	-	-	1	ATRX	uc004eco.4,p.D1604V|NM_138270,p.D1781V|ENST00000373344,p.D1819V|uc004ecq.4,p.D1781V|ENST00000395603,p.D1781V|NM_000489,p.D1819V|uc004ecp.4,p.D1819V	protein_coding, processed_transcript	uc004ecq.4	nonsynonymous SNV	exon21	c.A5342T	p.D1781V	LYEMLAGCVQRKDYTALTKFLPPKH	LYEMLAGCVQRKVYTALTKFLPPKH	9.0	3.0	-	-	4317_X:76872191-76872191 T>A_LYEMLAGCVQRKVYTALTKFLPPKH
1:29356937-29356937 T>G	1.0	4317	RECTAL	-	-	-	-	EPB41	uc009vtl.2,p.L175V|uc009vtk.2,p.L349V|ENST00000356093,p.L384V|uc001brl.2,p.L384V|NM_001166007,p.L175V|ENST00000373800,p.L175V|uc001bri.2,p.L349V|NM_203342,p.L175V|NM_001166005,p.L384V|ENST00000347529,p.L349V|uc001brk.3,p.L384V|ENST00000398863,p.L384V|ENST00000373797,p.L384V|uc001brm.2,p.L384V|uc021okg.1,p.L384V|uc009vtm.2,p.L17V|ENST00000373798,p.L384V|ENST00000343067,p.L384V|uc001brg.2,p.L175V|NM_203343,p.L349V|NM_004437,p.L175V|ENST00000349460,p.L175V|NM_001166006,p.L384V|uc001brj.2,p.L175V|uc001brh.2,p.L175V	protein_coding, processed_transcript	uc021okg.1	nonsynonymous SNV	exon7	c.T1150G	p.L384V	KSYRSMTPAQADLEFLENAKKLSMY	KSYRSMTPAQADVEFLENAKKLSMY	10.0	2.0	-	-	4317_1:29356937-29356937 T>G_KSYRSMTPAQADVEFLENAKKLSMY
X:102192922-102192922 T>A	1.0	4317	RECTAL	-	-	-	-	RAB40AL	ENST00000218249,p.S226T|NM_001031834,p.S226T|uc004ejs.3,p.S226T	protein_coding	uc004ejs.3	nonsynonymous SNV	exon1	c.T676A	p.S226T	LPIALRSHLKSFSMAKGLNARMMRG	LPIALRSHLKSFTMAKGLNARMMRG	6.0	4.0	-	-	4317_X:102192922-102192922 T>A_LPIALRSHLKSFTMAKGLNARMMRG
7:2296532-2296532 A>C	1.0	4317	RECTAL	-	-	-	-	SNX8	NM_013321,p.S421A|ENST00000222990,p.S421A|uc003slw.3,p.S421A	retained_intron, protein_coding	uc003slw.3	nonsynonymous SNV	exon10	c.T1261G	p.S421A	PLTSHILRAFVNSQIQGHKEMSKVW	PLTSHILRAFVNAQIQGHKEMSKVW	7.0	9.0	-	-	4317_7:2296532-2296532 A>C_PLTSHILRAFVNAQIQGHKEMSKVW
2:105897139-105897139 G>C	1.0	4317	RECTAL	-	-	-	-	TGFBRAP1	NM_001142621,p.P388R|NM_004257,p.P388R|uc002tcr.4,p.P388R|ENST00000393359,p.P388R|uc010fjc.3,p.P158R|uc002tcq.3,p.P388R|ENST00000258449,p.P388R	protein_coding	uc010fjc.3	nonsynonymous SNV	exon4	c.C473G	p.P158R	GQLDVRELISLYPFLLPTSSSFTRS	GQLDVRELISLYRFLLPTSSSFTRS	7.0	9.0	-	-	4317_2:105897139-105897139 G>C_GQLDVRELISLYRFLLPTSSSFTRS
1:151497226-151497226 G>A	1.0	4317	RECTAL	-	-	-	-	CGN	NM_020770,p.R493Q|uc009wmw.3,p.R493Q|ENST00000271636,p.R493Q	retained_intron, protein_coding	uc009wmw.3	nonsynonymous SNV	exon8	c.G1478A	p.R493Q	EGKQRVEEQLRLRERELTALKGALK	EGKQRVEEQLRLQERELTALKGALK	10.0	6.0	-	-	4317_1:151497226-151497226 G>A_EGKQRVEEQLRLQERELTALKGALK
12:53680479-53680479 G>A	1.0	4317	RECTAL	-	-	-	-	ESPL1	ENST00000552462,p.R1320H|NM_012291,p.R1320H|uc001scj.2,p.R995H|ENST00000257934,p.R1320H|uc001sck.2,p.R1320H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sck.2	nonsynonymous SNV	exon18	c.G3959A	p.R1320H	SKTQGQKRSGRGRQKLASAPLRLNN	SKTQGQKRSGRGHQKLASAPLRLNN	7.0	6.0	-	-	4317_12:53680479-53680479 G>A_SKTQGQKRSGRGHQKLASAPLRLNN
1:155104084-155104086 AAG>-	1.0	4317	RECTAL	-	-	-	-	EFNA1	NM_004428,p.121_122del|ENST00000368407,p.121_122del|uc001fhh.3,p.121_122del	protein_coding, processed_transcript	uc001fhh.3	nonframeshift deletion	exon2	c.362_364del	p.121_122del	QRFTPFTLGKEFKEGHSYYYISKPI	QRFTPFTLGKEFKGHSYYYISKPIH	10.0	7.0	-	-	4317_1:155104084-155104086 AAG>-_QRFTPFTLGKEFKGHSYYYISKPIH
14:77944602-77944602 G>A	1.0	4317	RECTAL	0.0009	-	-	-	ISM2	ENST00000493585,p.R279W|NM_182509,p.R279W|uc001xua.3,p.R279W	retained_intron, protein_coding, nonsense_mediated_decay	uc001xua.3	nonsynonymous SNV	exon5	c.C835T	p.R279W	PVRSGSSWPAMLRTCMIKMWTAVRS	PVRSGSSWPAMLWTCMIKMWTAVRS	5.0	10.0	-	-	4317_14:77944602-77944602 G>A_PVRSGSSWPAMLWTCMIKMWTAVRS
10:61566739-61566739 T>A	1.0	4317	RECTAL	-	-	-	1	CCDC6	uc001jks.4,p.R315S|ENST00000263102,p.R315S|NM_005436,p.R315S	retained_intron, protein_coding	uc001jks.4	nonsynonymous SNV	exon6	c.A945T	p.R315S	RLQRKLQREMERREALCRQLSESES	RLQRKLQREMERSEALCRQLSESES	7.0	3.0	-	-	4317_10:61566739-61566739 T>A_RLQRKLQREMERSEALCRQLSESES
5:179020490-179020490 A>C	1.0	4317	RECTAL	-	-	-	-	RUFY1	NM_025158,p.K419N|uc003mkb.2,p.K311N|NM_001040451,p.K311N|uc003mkc.2,p.K311N|uc003mka.2,p.K419N|NM_001040452,p.K311N|ENST00000437570,p.K311N|ENST00000319449,p.K419N|ENST00000393438,p.K311N|uc003mkd.2,p.K21N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003mkd.2	nonsynonymous SNV	exon2	c.A63C	p.K21N	LKEEKKVRLELEKELELQIGMKTEM	LKEEKKVRLELENELELQIGMKTEM	8.0	1.0	-	-	4317_5:179020490-179020490 A>C_LKEEKKVRLELENELELQIGMKTEM
20:48467300-48467300 ->T	0.0	4317	RECTAL	-	-	-	-	SLC9A8	uc010zyj.2,p.G179fs|ENST00000417961,p.G179fs|NM_001260491,p.G179fs	protein_coding, processed_transcript	uc010zyj.2	frameshift insertion	exon7	c.537dupT	p.G179fs	FVVGGGIYFLGQGFFFVCVCVFVCF	FVVGGGIYFLGQGFFFCVCLCVCVFYFTG	8.0	6.0	-	-	4317_20:48467300-48467300 ->T_FVVGGGIYFLGQGFFFCVCLCVCVFYFTG
22:42606183-42606183 T>G	0.0	4317	RECTAL	-	-	-	-	TCF20	ENST00000335626,p.K1710T|ENST00000359486,p.K1710T|uc003bck.1,p.K1710T|NM_005650,p.K1710T|NM_181492,p.K1710T|uc003bcj.1,p.K1710T	protein_coding	uc003bck.1	nonsynonymous SNV	exon1	c.A5129C	p.K1710T	SVMGHLVCCLCGKWASYRNMGDLFG	SVMGHLVCCLCGTWASYRNMGDLFG	9.0	3.0	-	-	4317_22:42606183-42606183 T>G_SVMGHLVCCLCGTWASYRNMGDLFG
4:79793030-79793030 G>C	1.0	4317	RECTAL	-	-	-	-	BMP2K	uc003hlj.3,p.Q512H|ENST00000502871,p.Q512H|NM_017593,p.Q512H|uc003hlk.3,p.Q512H|ENST00000335016,p.Q512H|NM_198892,p.Q512H	retained_intron, protein_coding, nonsense_mediated_decay	uc003hlk.3	nonsynonymous SNV	exon12	c.G1536C	p.Q512H	YMQQYQHATQQQQMLQQQFLMHSVY	YMQQYQHATQQQHMLQQQFLMHSVY	10.0	6.0	-	-	4317_4:79793030-79793030 G>C_YMQQYQHATQQQHMLQQQFLMHSVY
20:16360121-16360121 G>C	1.0	4317	RECTAL	-	-	-	-	KIF16B	uc002wpf.1,p.D224E|ENST00000354981,p.D842E|uc002wpe.1,p.D224E|uc002wpg.2,p.D842E|NM_001199865,p.D842E|uc010gcj.2,p.D853E|uc010gci.2,p.D842E|ENST00000408042,p.D842E|ENST00000378003,p.D68E|ENST00000355755,p.D842E|uc010gch.2,p.D842E|NM_024704,p.D842E|NM_001199866,p.D842E	protein_coding	uc010gcj.2	nonsynonymous SNV	exon20	c.C2559G	p.D853E	RRQLVKLVNLEKDLVQQKDILKKEV	RRQLVKLVNLEKELVQQKDILKKEV	9.0	1.0	-	-	4317_20:16360121-16360121 G>C_RRQLVKLVNLEKELVQQKDILKKEV
7:100280777-100280777 G>A	1.0	4317	RECTAL	-	-	-	-	GIGYF1	NM_022574,p.P757L|ENST00000275732,p.P757L|uc003uwg.1,p.P757L	retained_intron, protein_coding, processed_transcript	uc003uwg.1	nonsynonymous SNV	exon19	c.C2270T	p.P757L	QQAVPVPPAPSSPPPLWAGLAKQGL	QQAVPVPPAPSSLPPLWAGLAKQGL	8.0	6.0	-	-	4317_7:100280777-100280777 G>A_QQAVPVPPAPSSLPPLWAGLAKQGL
19:22940516-22940516 G>A	1.0	4317	RECTAL	-	-	-	-	ZNF99	NM_001080409,p.P732L|uc021urt.1,p.P732L|ENST00000397104,p.P641L|ENST00000596209,p.P732L	protein_coding	uc021urt.1	nonsynonymous SNV	exon4	c.C2195T	p.P732L	LRKHEIIHTGEKPYKCEECGKAFKW	LRKHEIIHTGEKLYKCEECGKAFKW	5.0	8.0	-	-	4317_19:22940516-22940516 G>A_LRKHEIIHTGEKLYKCEECGKAFKW
3:46727055-46727055 T>G	1.0	4317	RECTAL	-	-	-	-	ALS2CL	ENST00000434140,p.E249A|ENST00000431015,p.E249A|ENST00000318962,p.E249A|uc003cqa.2,p.E249A|ENST00000450172,p.E249A|NM_147129,p.E249A|ENST00000415953,p.E249A|uc003cqb.2,p.E249A|NM_001190707,p.E249A	retained_intron, protein_coding, nonsense_mediated_decay	uc003cqb.2	nonsynonymous SNV	exon7	c.A746C	p.E249A	QDVPVTVAPLRAERVLLFDDALVLL	QDVPVTVAPLRAARVLLFDDALVLL	9.0	2.0	-	-	4317_3:46727055-46727055 T>G_QDVPVTVAPLRAARVLLFDDALVLL
15:43827478-43827478 C>A	1.0	4317	RECTAL	-	-	-	-	PPIP5K1	ENST00000381879,p.E1208D|uc001zry.4,p.E1207D|ENST00000360135,p.E1205D|ENST00000348806,p.E1205D|ENST00000420765,p.E1232D|uc021sjw.1,p.E1207D|NM_001130859,p.E1207D|ENST00000334933,p.E1207D|NM_001130858,p.E1232D|ENST00000396923,p.E1232D|NM_001190214,p.E1205D|ENST00000381885,p.E1228D|uc001zrw.3,p.E1232D|ENST00000360301,p.E1207D|uc001zrx.2,p.E1205D|NM_014659,p.E1207D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021sjw.1	nonsynonymous SNV	exon29	c.G3621T	p.E1207D	SGAQELSIEGEQELFEPNQSPQVPP	SGAQELSIEGEQDLFEPNQSPQVPP	10.0	3.0	-	-	4317_15:43827478-43827478 C>A_SGAQELSIEGEQDLFEPNQSPQVPP
10:103588836-103588836 T>G	0.0	4317	RECTAL	-	-	-	-	KCNIP2	ENST00000353068,p.K65T|NM_173193,p.K65T|uc001kud.3,p.K65T	protein_coding, processed_transcript	uc001kud.3	nonsynonymous SNV	exon2	c.A194C	p.K65T	TRKELQVLYRGFKNPGALSFQECPS	TRKELQVLYRGFTNPGALSFQECPS	6.0	5.0	unscreened	-	4317_10:103588836-103588836 T>G_TRKELQVLYRGFTNPGALSFQECPS
19:36278433-36278433 C>T	1.0	4317	RECTAL	0.0005	-	-	-	ARHGAP33	ENST00000007510,p.S989L|ENST00000314737,p.S828L|uc002obs.2,p.S828L|uc002obv.1,p.S577L|NM_052948,p.S828L	retained_intron, protein_coding, processed_transcript	uc002obv.1	nonsynonymous SNV	exon8	c.C1730T	p.S577L	GSLLRSQRPMGTSRRGLRGPAQVSA	GSLLRSQRPMGTLRRGLRGPAQVSA	9.0	7.0	-	-	4317_19:36278433-36278433 C>T_GSLLRSQRPMGTLRRGLRGPAQVSA
19:36278433-36278433 C>T	1.0	4317	RECTAL	0.0005	-	-	-	ARHGAP33	uc002obt.2,p.S853L|ENST00000378944,p.S853L|NM_001172630,p.S853L	retained_intron, protein_coding, processed_transcript	uc002obt.2	nonsynonymous SNV	exon20	c.C2558T	p.S853L	GSLLRSQRPMGTSRRGLRGPAQVPT	GSLLRSQRPMGTLRRGLRGPAQVPT	9.0	7.0	-	-	4317_19:36278433-36278433 C>T_GSLLRSQRPMGTLRRGLRGPAQVPT
9:14857595-14857595 T>A	1.0	4317	RECTAL	-	-	-	-	FREM1	ENST00000422223,p.I262F|NM_144966,p.I262F|uc003zlm.3,p.I262F|ENST00000380880,p.I262F|ENST00000380881,p.I262F|ENST00000380875,p.I262F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003zlm.3	nonsynonymous SNV	exon6	c.A784T	p.I262F	LDPPSPNIDYISIQLDLTDTRSKIV	LDPPSPNIDYISFQLDLTDTRSKIV	6.0	10.0	-	-	4317_9:14857595-14857595 T>A_LDPPSPNIDYISFQLDLTDTRSKIV
18:67802514-67802514 A>G	0.0	4317	RECTAL	-	-	-	-	RTTN	ENST00000255674,p.S931P|uc002lkp.2,p.S931P|uc010xfb.1,p.S19P|NM_173630,p.S931P|ENST00000437017,p.S931P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xfb.1	nonsynonymous SNV	exon21	c.T55C	p.S19P	QQSSLLTVLFRVSLIFHEDCSVVTE	QQSSLLTVLFRVPLIFHEDCSVVTE	6.0	8.0	unscreened	-	4317_18:67802514-67802514 A>G_QQSSLLTVLFRVPLIFHEDCSVVTE
17:7577120-7577120 C>T	1.0	4317	RECTAL	0.0005	-	ID=COSM99729,COSM1645335,COSM3356963,COSM10660;OCCURENCE=1(vulva),32(oesophagus),44(upper_aerodigestive_tract),4(bone),1(thymus),45(central_nervous_system),22(stomach),1(cervix),27(haematopoietic_and_lymphoid_tissue),42(lung),4(penis),8(endometrium),57(ovary),1(soft_tissue),1(fallopian_tube),5(biliary_tract),144(large_intestine),19(urinary_tract),2(genital_tract),4(liver),25(pancreas),70(breast),8(skin)	1	TP53	NM_000546,p.R273H|NM_001276760,p.R234H|NM_001276699,p.R114H|NM_001276695,p.R234H|uc010cng.2,p.R114H|uc002gij.3,p.R234H|NM_001276696,p.R234H|NM_001126114,p.R273H|NM_001126112,p.R273H|ENST00000445888,p.R273H|NM_001276761,p.R234H|NM_001126116,p.R141H|uc031qyq.1,p.R234H|ENST00000509690,p.R141H|uc002gii.2,p.R114H|NM_001276698,p.R114H|uc010cnf.2,p.R114H|uc002gih.3,p.R273H|NM_001276697,p.R114H|ENST00000455263,p.R273H|NM_001126118,p.R234H|NM_001126113,p.R273H|ENST00000359597,p.R273H|NM_001126117,p.R141H|ENST00000269305,p.R273H|NM_001126115,p.R141H|ENST00000420246,p.R273H	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon7	c.G701A	p.R234H	SGNLLGRNSFEVRVCACPGRDRRTE	SGNLLGRNSFEVHVCACPGRDRRTE	9.0	10.0	-	-	4317_17:7577120-7577120 C>T_SGNLLGRNSFEVHVCACPGRDRRTE
14:100759090-100759090 G>A	1.0	4317	RECTAL	0.0018	-	-	-	SLC25A29	NM_001039355,p.R148C|ENST00000555927,p.R82C|uc001yha.3,p.R148C|NM_152333,p.R82C|ENST00000556505,p.R82C|ENST00000539621,p.R82C|ENST00000554912,p.R82C|ENST00000554291,p.R82C|uc010avv.3,p.R82C|NM_001291813,p.R82C|NM_001291814,p.R82C|ENST00000359232,p.R148C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010avv.3	nonsynonymous SNV	exon3	c.C244T	p.R82C	DCLAQIYGHEGLRGVNRGMVSTLLR	DCLAQIYGHEGLCGVNRGMVSTLLR	8.0	7.0	-	-	4317_14:100759090-100759090 G>A_DCLAQIYGHEGLCGVNRGMVSTLLR
17:72862962-72862962 G>C	0.0	4317	RECTAL	-	-	-	-	FDXR	ENST00000580492,p.A79G|ENST00000583881,p.A64G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000583881	nonsynonymous SNV	exon3	c.C191G	p.A64G	APPGPRGHLRETACALWPGALWCGA	APPGPRGHLRETGCALWPGALWCGA	7.0	3.0	-	-	4317_17:72862962-72862962 G>C_APPGPRGHLRETGCALWPGALWCGA
X:63412967-63412967 C>T	0.0	4317	RECTAL	-	-	-	1	AMER1	ENST00000403336,p.C67Y|uc022byb.1,p.C67Y|ENST00000330258,p.C67Y|NM_152424,p.C67Y|uc004dvo.3,p.C67Y|ENST00000374869,p.C67Y	protein_coding	uc022byb.1	nonsynonymous SNV	exon1	c.G200A	p.C67Y	TAMKLFGGKKGICTLPSFFGGGRSK	TAMKLFGGKKGIYTLPSFFGGGRSK	7.0	6.0	-	-	4317_X:63412967-63412967 C>T_TAMKLFGGKKGIYTLPSFFGGGRSK
19:36276359-36276359 C>A	1.0	4317	RECTAL	-	-	-	-	ARHGAP33	uc002obs.2,p.S639Y|ENST00000314737,p.S639Y|NM_052948,p.S639Y	retained_intron, protein_coding, processed_transcript	uc002obs.2	nonsynonymous SNV	exon19	c.C1916A	p.S639Y	DTVTLRSAKSEESLSSQASGAELLG	DTVTLRSAKSEEYLSSQASGAELLG	9.0	8.0	-	-	4317_19:36276359-36276359 C>A_DTVTLRSAKSEEYLSSQASGAELLG
12:52115454-52115454 A>T	1.0	4317	RECTAL	-	-	-	-	SCN8A	uc010snl.3,p.E587V|uc001ryx.1,p.E452V|ENST00000545061,p.E587V|ENST00000550891,p.E587V|ENST00000355133,p.E587V|ENST00000354534,p.E587V|ENST00000551216,p.E385V|uc001ryw.4,p.E587V|uc001ryy.2,p.E452V|NM_001177984,p.E587V|uc001ryz.1,p.E452V|NM_014191,p.E587V	protein_coding, processed_transcript	uc010snl.3	nonsynonymous SNV	exon12	c.A1760T	p.E587V	RDPGSENEFADDEHSTVEESEGRRD	RDPGSENEFADDVHSTVEESEGRRD	7.0	2.0	-	-	4317_12:52115454-52115454 A>T_RDPGSENEFADDVHSTVEESEGRRD
2:55071374-55071374 C>A	1.0	4317	RECTAL	-	-	-	-	EML6	ENST00000356458,p.D346E|NM_001039753,p.D346E|uc002ryb.4,p.D346E	retained_intron, protein_coding, processed_transcript	uc002ryb.4	nonsynonymous SNV	exon7	c.C1038A	p.D346E	HPKKPLAVTGSDDRSVRLWSLADHA	HPKKPLAVTGSDERSVRLWSLADHA	6.0	7.0	-	-	4317_2:55071374-55071374 C>A_HPKKPLAVTGSDERSVRLWSLADHA
5:140573858-140573858 G>A	1.0	4317	RECTAL	-	-	-	-	PCDHB10	ENST00000239446,p.R578Q|uc003lix.3,p.R578Q|NM_018930,p.R578Q	protein_coding	uc003lix.3	nonsynonymous SNV	exon1	c.G1733A	p.R578Q	QNGSAPCTELVPRAAEPGYLVTKVV	QNGSAPCTELVPQAAEPGYLVTKVV	9.0	9.0	-	-	4317_5:140573858-140573858 G>A_QNGSAPCTELVPQAAEPGYLVTKVV
1:116670779-116670779 A>C	0.0	4317	RECTAL	-	-	-	-	MAB21L3	ENST00000369500,p.N225T|uc001egc.1,p.N225T|NM_152367,p.N225T	protein_coding, processed_transcript	uc001egc.1	nonsynonymous SNV	exon6	c.A674C	p.N225T	QERVECIKSFGFNLLACSNYHWQLS	QERVECIKSFGFTLLACSNYHWQLS	6.0	2.0	unscreened	-	4317_1:116670779-116670779 A>C_QERVECIKSFGFTLLACSNYHWQLS
19:36276359-36276359 C>A	1.0	4317	RECTAL	-	-	-	-	ARHGAP33	uc002obr.2,p.S639Y|uc002obv.1,p.S227Y|ENST00000378944,p.S503Y|uc002obt.2,p.S503Y|ENST00000007510,p.S639Y|NM_001172630,p.S503Y	retained_intron, protein_coding, processed_transcript	uc002obv.1	nonsynonymous SNV	exon6	c.C680A	p.S227Y	DTVTLRSAKSEESLSSQASGAGLQR	DTVTLRSAKSEEYLSSQASGAGLQR	9.0	8.0	-	-	4317_19:36276359-36276359 C>A_DTVTLRSAKSEEYLSSQASGAGLQR
16:68901008-68901008 G>C	1.0	4317	RECTAL	-	-	-	-	TANGO6	uc002ewh.3,p.M293I|ENST00000261778,p.M293I|NM_024562,p.M293I|uc002ewi.4,p.M293I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ewi.4	nonsynonymous SNV	exon4	c.G879C	p.M293I	GPPQSCTDVKTQMRCRAPAWLRRLC	GPPQSCTDVKTQIRCRAPAWLRRLC	7.0	8.0	-	-	4317_16:68901008-68901008 G>C_GPPQSCTDVKTQIRCRAPAWLRRLC
X:49068710-49068710 C>G	1.0	4317	RECTAL	-	-	-	-	CACNA1F	NM_005183,p.G1345A|uc031tjm.1,p.G1280A|NM_001256789,p.G1334A|uc010nip.3,p.G1334A|ENST00000376265,p.G1345A|NM_001256790,p.G1280A|ENST00000376251,p.G1280A|uc004dnb.3,p.G1345A|ENST00000323022,p.G1334A	retained_intron, protein_coding, processed_transcript	uc031tjm.1	nonsynonymous SNV	exon34	c.G3839C	p.G1280A	LIAMIFFIYAVIGMQMFGKVALQDG	LIAMIFFIYAVIAMQMFGKVALQDG	5.0	4.0	-	-	4317_X:49068710-49068710 C>G_LIAMIFFIYAVIAMQMFGKVALQDG
19:47258744-47258744 G>A	1.0	4317	RECTAL	-	-	-	-	FKRP	ENST00000600629,p.A13T|NM_024301,p.A13T|ENST00000597313,p.A13T|ENST00000593902,p.A13T|ENST00000600005,p.A13T|uc002pfn.2,p.A13T|ENST00000601299,p.A13T|NM_001039885,p.A13T|ENST00000600227,p.A13T|uc002pfp.2,p.A13T|ENST00000602250,p.A13T|ENST00000596460,p.A13T|ENST00000595868,p.A13T|ENST00000598271,p.A13T|ENST00000391909,p.A13T|ENST00000318584,p.A13T|ENST00000600834,p.A13T|ENST00000593800,p.A13T|ENST00000593875,p.A13T|uc021uwj.1,p.A13T|ENST00000602181,p.A13T|ENST00000595570,p.A13T	retained_intron, protein_coding, processed_transcript	uc021uwj.1	nonsynonymous SNV	exon1	c.G37A	p.A13T	MRLTRCQAALAAAITLNLLVLFYVS	MRLTRCQAALAATITLNLLVLFYVS	6.0	7.0	-	-	4317_19:47258744-47258744 G>A_MRLTRCQAALAATITLNLLVLFYVS
12:53663667-53663667 T>G	0.0	4317	RECTAL	-	-	-	-	ESPL1	NM_012291,p.L314R|uc001sck.2,p.L314R|ENST00000552462,p.L314R|ENST00000257934,p.L314R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sck.2	nonsynonymous SNV	exon3	c.T941G	p.L314R	QVGEEGPQAVAKLLIKASAVLSKSM	QVGEEGPQAVAKRLIKASAVLSKSM	7.0	6.0	-	-	4317_12:53663667-53663667 T>G_QVGEEGPQAVAKRLIKASAVLSKSM
13:37598222-37598222 T>C	1.0	4317	RECTAL	-	-	-	-	SUPT20H	uc001uwf.3,p.Q92R|uc001uwh.3,p.Q515R|uc001uwk.3,p.Q514R|NM_001278482,p.Q515R|ENST00000350612,p.Q514R|uc001uwi.3,p.Q514R|uc001uwj.3,p.Q515R|ENST00000464744,p.Q515R|NM_001278480,p.Q514R|ENST00000495071,p.Q478R|NM_017569,p.Q515R|ENST00000475892,p.Q514R|uc010tes.1,p.Q478R|ENST00000356185,p.Q515R|uc001uwg.3,p.Q514R|ENST00000360252,p.Q515R|uc010abt.3,p.Q515R|uc001uwl.1,p.Q514R|NM_001014286,p.Q514R|ENST00000542180,p.Q478R|NM_001278481,p.Q515R|ENST00000490716,p.Q502R	retained_intron, protein_coding, processed_transcript	uc010tes.1	nonsynonymous SNV	exon17	c.A1433G	p.Q478R	SSIPRKSSVDLNQVSMLSPAALSPA	SSIPRKSSVDLNRVSMLSPAALSPA	10.0	3.0	unscreened	-	4317_13:37598222-37598222 T>C_SSIPRKSSVDLNRVSMLSPAALSPA
1:1309387-1309387 C>T	1.0	4317	RECTAL	-	-	-	-	AURKAIP1	uc009vkb.1,p.R164H|NM_017900,p.R164H|NM_001127230,p.R164H|ENST00000321751,p.R164H|NM_001127229,p.R164H|uc001afd.2,p.R164H|ENST00000338338,p.R164H|uc001afc.2,p.R164H|ENST00000378853,p.R164H|uc001afb.1,p.R164H|ENST00000338370,p.R164H	protein_coding, processed_transcript	uc009vkb.1	nonsynonymous SNV	exon3	c.G491A	p.R164H	FLRRKVQEGRLRRKQIKFEKDLRRI	FLRRKVQEGRLRHKQIKFEKDLRRI	8.0	10.0	-	-	4317_1:1309387-1309387 C>T_FLRRKVQEGRLRHKQIKFEKDLRRI
5:35740114-35740114 C>G	0.0	4317	RECTAL	-	-	-	-	SPEF2	uc003jjp.1,p.Q539E|ENST00000356031,p.Q1053E|uc003jjo.3,p.Q1053E|NM_024867,p.Q1053E|ENST00000440995,p.Q1048E	retained_intron, protein_coding, nonsense_mediated_decay	uc003jjp.1	nonsynonymous SNV	exon12	c.C1615G	p.Q539E	TIKTVLRHLREDQHTVLAYLYEIRT	TIKTVLRHLREDEHTVLAYLYEIRT	5.0	3.0	-	-	4317_5:35740114-35740114 C>G_TIKTVLRHLREDEHTVLAYLYEIRT
10:73455281-73455281 C>T	1.0	4317	RECTAL	-	-	-	-	CDH23	ENST00000224721,p.T804M|NM_001171931,p.T799M|NM_001171930,p.T799M|NM_022124,p.T799M|ENST00000299366,p.T844M	protein_coding, processed_transcript	NM_022124	nonsynonymous SNV	exon21	c.C2396T	p.T799M	LVEMTPPDSDVTTVVAVDPDLGENG	LVEMTPPDSDVTMVVAVDPDLGENG	6.0	10.0	-	-	4317_10:73455281-73455281 C>T_LVEMTPPDSDVTMVVAVDPDLGENG
14:105415666-105415666 G>A	1.0	4317	RECTAL	-	rs150446570	-	-	AHNAK2	uc010axc.1,p.P2041L|uc001ypx.2,p.P1941L|NM_138420,p.P2041L|ENST00000333244,p.P2041L	retained_intron, protein_coding	uc010axc.1	nonsynonymous SNV	exon7	c.C6122T	p.P2041L	GDLKTTDLSIQPPSADLKVQTGQVD	GDLKTTDLSIQPLSADLKVQTGQVD	10.0	3.0	unscreened	-	4317_14:105415666-105415666 G>A_GDLKTTDLSIQPLSADLKVQTGQVD
22:42003322-42003322 C>A	0.0	4317	RECTAL	-	-	-	-	DESI1	NM_015704,p.V42F|ENST00000263256,p.V42F|uc003bam.2,p.V42F	retained_intron, protein_coding, processed_transcript	uc003bam.2	nonsynonymous SNV	exon3	c.G124T	p.V42F	GKQLEGIWHTSIVVHKDEFFFGSGG	GKQLEGIWHTSIFVHKDEFFFGSGG	8.0	3.0	-	-	4317_22:42003322-42003322 C>A_GKQLEGIWHTSIFVHKDEFFFGSGG
19:36278563-36278563 C>A	0.0	4317	RECTAL	-	-	-	-	ARHGAP33	ENST00000378944,p.F868L|uc002obt.2,p.F868L|NM_001172630,p.F868L	retained_intron, protein_coding, processed_transcript	uc002obt.2	nonsynonymous SNV	exon21	c.C2604A	p.F868L	GLRGPAQVPTPGFFSPAPRECLPPF	GLRGPAQVPTPGLFSPAPRECLPPF	9.0	7.0	-	-	4317_19:36278563-36278563 C>A_GLRGPAQVPTPGLFSPAPRECLPPF
5:112102892-112102892 A>C	0.0	4317	RECTAL	-	-	-	1	APC	ENST00000512211,p.N76T|ENST00000508376,p.N76T|ENST00000508624,p.N76T|ENST00000457016,p.N76T|ENST00000507379,p.N86T|NM_001127511,p.N86T|uc003kpy.4,p.N76T|uc011cvt.2,p.N86T|NM_000038,p.N76T|uc003kpz.4,p.N76T|ENST00000257430,p.N76T|NM_001127510,p.N76T|ENST00000509732,p.N76T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cvt.2	nonsynonymous SNV	exon3	c.A257C	p.N86T	GQIDLLERLKELNLDSSNFPGVKLR	GQIDLLERLKELTLDSSNFPGVKLR	8.0	1.0	-	-	4317_5:112102892-112102892 A>C_GQIDLLERLKELTLDSSNFPGVKLR
7:92161819-92161819 T>G	0.0	4317	RECTAL	-	-	-	-	RBM48	NM_032120,p.L135R|uc003uma.3,p.L135R|ENST00000496410,p.L77R|uc003ulz.3,p.L135R|ENST00000481551,p.L135R|ENST00000265732,p.L135R|uc011khu.1,p.L135R	protein_coding	uc011khu.1	nonsynonymous SNV	exon3	c.T404G	p.L135R	PEFETVEETRKKLQMRKAYVVKTTE	PEFETVEETRKKRQMRKAYVVKTTE	6.0	4.0	-	-	4317_7:92161819-92161819 T>G_PEFETVEETRKKRQMRKAYVVKTTE
9:112969753-112969753 G>A	1.0	4317	RECTAL	-	-	-	-	C9orf152	NM_001012993,p.P36L|ENST00000400613,p.P36L|uc011lwk.2,p.P36L	protein_coding, processed_transcript	uc011lwk.2	nonsynonymous SNV	exon1	c.C107T	p.P36L	EGSRTQAPGKGPPLSIQFLRAQYEG	EGSRTQAPGKGPLLSIQFLRAQYEG	5.0	7.0	-	-	4317_9:112969753-112969753 G>A_EGSRTQAPGKGPLLSIQFLRAQYEG
19:36278563-36278563 C>A	0.0	4317	RECTAL	-	-	-	-	ARHGAP33	uc002obs.2,p.F871L|ENST00000314737,p.F871L|ENST00000007510,p.F1032L|NM_052948,p.F871L|uc002obv.1,p.F620L	retained_intron, protein_coding, processed_transcript	uc002obv.1	nonsynonymous SNV	exon8	c.C1860A	p.F620L	PCSVPSQVPTPGFFSPAPRECLPPF	PCSVPSQVPTPGLFSPAPRECLPPF	9.0	7.0	-	-	4317_19:36278563-36278563 C>A_PCSVPSQVPTPGLFSPAPRECLPPF
16:3076271-3076271 G>A	1.0	4317	RECTAL	-	-	-	-	THOC6	ENST00000574549,p.R91H|uc002cta.2,p.R91H|uc002ctd.2,p.R115H|uc002ctb.2,p.R115H|ENST00000326266,p.R115H|NM_001142350,p.R115H|ENST00000253952,p.R115H|ENST00000575576,p.R91H|NM_024339,p.R115H	retained_intron, protein_coding	uc002ctd.2	nonsynonymous SNV	exon5	c.G344A	p.R115H	AEMLKKGCKELWRRQPPYRTSLEVP	AEMLKKGCKELWHRQPPYRTSLEVP	8.0	10.0	-	-	4317_16:3076271-3076271 G>A_AEMLKKGCKELWHRQPPYRTSLEVP
1:204945917-204945917 G>A	1.0	4317	RECTAL	-	-	-	-	NFASC	ENST00000367170,p.V609M|uc010prb.2,p.V620M|ENST00000430393,p.V596M|ENST00000401399,p.V609M|ENST00000339876,p.V609M|NM_001005388,p.V609M|ENST00000367172,p.V609M|uc001hbj.3,p.V609M|ENST00000338586,p.V609M|NM_001160331,p.V620M|uc010prc.2,p.V176M|ENST00000338515,p.V609M|ENST00000367169,p.V609M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010prc.2	nonsynonymous SNV	exon15	c.G526A	p.V176M	ELDQDLAKAYLTVLADQATPTNRLA	ELDQDLAKAYLTMLADQATPTNRLA	7.0	10.0	-	-	4317_1:204945917-204945917 G>A_ELDQDLAKAYLTMLADQATPTNRLA
3:98527007-98527007 C>A	0.0	4317	RECTAL	-	-	-	-	DCBLD2	uc003dte.3,p.A530S|ENST00000326840,p.A530S|uc003dtd.3,p.A530S|NM_080927,p.A530S|ENST00000326857,p.A530S	retained_intron, protein_coding, processed_transcript	uc003dte.3	nonsynonymous SNV	exon13	c.G1588T	p.A530S	TVTPNVTKDVALAAVLVPVLVMVLT	TVTPNVTKDVALSAVLVPVLVMVLT	6.0	6.0	-	-	4317_3:98527007-98527007 C>A_TVTPNVTKDVALSAVLVPVLVMVLT
14:100759090-100759090 G>A	1.0	4317	RECTAL	0.0018	-	-	-	SLC25A29	ENST00000392908,p.A133V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000392908	nonsynonymous SNV	exon3	c.C398T	p.A133V	GLPRADLRARGSAWRQPGHGVHVAA	GLPRADLRARGSVWRQPGHGVHVAA	8.0	7.0	unscreened	-	4317_14:100759090-100759090 G>A_GLPRADLRARGSVWRQPGHGVHVAA
9:130707841-130707841 C>T	1.0	4317	RECTAL	-	-	-	-	FAM102A	ENST00000373095,p.G241D|uc004bsx.2,p.G241D|NM_001035254,p.G241D|uc004bsw.1,p.G99D|ENST00000373084,p.G99D|NM_203305,p.G99D	retained_intron, protein_coding, processed_transcript	uc004bsx.2	nonsynonymous SNV	exon8	c.G722A	p.G241D	NSSYASQQSKISGYSTEHSRSSSLS	NSSYASQQSKISDYSTEHSRSSSLS	9.0	9.0	-	-	4317_9:130707841-130707841 C>T_NSSYASQQSKISDYSTEHSRSSSLS
6:33383075-33383075 T>G	1.0	4317	RECTAL	-	-	-	-	PHF1	NM_024165,p.F435V|uc010jux.3,p.F235V|ENST00000374516,p.F435V|uc003oeh.3,p.F435V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jux.3	nonsynonymous SNV	exon12	c.T703G	p.F235V	PNQSYQGSSGYNFRPTDARCLPSSP	PNQSYQGSSGYNVRPTDARCLPSSP	9.0	5.0	-	-	4317_6:33383075-33383075 T>G_PNQSYQGSSGYNVRPTDARCLPSSP
17:72862962-72862962 G>C	0.0	4317	RECTAL	-	-	-	-	FDXR	uc002jlz.3,p.P72A|ENST00000583917,p.P73A|ENST00000544854,p.P20A|uc010wrj.3,p.P70A|uc002jly.3,p.P72A|NM_024417,p.P72A|uc010wrl.2,p.P115A|uc010wrm.2,p.P73A|ENST00000413947,p.P103A|NM_001258013,p.P103A|uc002jlx.3,p.P72A|ENST00000581530,p.P72A|ENST00000579893,p.P21A|NM_001258014,p.P72A|ENST00000455107,p.P28A|NM_001258016,p.P20A|ENST00000293195,p.P72A|ENST00000581219,p.P115A|uc010wri.2,p.P20A|NM_001258015,p.P73A|NM_004110,p.P72A|ENST00000582944,p.P72A|NM_001258012,p.P115A|ENST00000420580,p.P73A|ENST00000442102,p.P115A|uc010wrk.2,p.P103A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wrm.2	nonsynonymous SNV	exon3	c.C217G	p.P73A	HPQAHVDIYEKQPVPFGLVRFGVAP	HPQAHVDIYEKQAVPFGLVRFGVAP	7.0	3.0	-	-	4317_17:72862962-72862962 G>C_HPQAHVDIYEKQAVPFGLVRFGVAP
19:6468407-6468407 T>G	1.0	4317	RECTAL	-	-	-	-	DENND1C	uc010xje.2,p.E499D|uc002mfe.3,p.E543D|NM_001290331,p.E499D|uc002mfb.3,p.E93D|NM_024898,p.E543D|ENST00000381480,p.E543D|uc002mfc.3,p.E93D|ENST00000543576,p.E499D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xje.2	nonsynonymous SNV	exon20	c.A1497C	p.E499D	PLSPEDEGCPWAEEALDSSFLGSGE	PLSPEDEGCPWADEALDSSFLGSGE	5.0	1.0	-	-	4317_19:6468407-6468407 T>G_PLSPEDEGCPWADEALDSSFLGSGE
10:17865181-17865181 A>G	0.0	4317	RECTAL	-	-	-	-	MRC1	ENST00000331429,p.K57R|uc031ptj.1,p.K57R|NM_002438,p.K57R|uc001ipk.4,p.K57R|ENST00000457317,p.K57R	protein_coding	uc031ptj.1	nonsynonymous SNV	exon2	c.A170G	p.K57R	QTAACNQDAESQKFRWVSESQIMSV	QTAACNQDAESQRFRWVSESQIMSV	8.0	2.0	-	-	4317_10:17865181-17865181 A>G_QTAACNQDAESQRFRWVSESQIMSV
7:81335040-81335040 G>A	0.0	4317	RECTAL	-	-	-	-	HGF	NM_001010932,p.T591M|ENST00000222390,p.T596M|uc003uhm.3,p.T591M|uc003uhl.3,p.T596M|NM_000601,p.T596M|ENST00000457544,p.T591M	retained_intron, protein_coding	uc003uhm.3	nonsynonymous SNV	exon16	c.C1772T	p.T591M	LARPAVLDDFVSTIDLPNYGCTIPE	LARPAVLDDFVSMIDLPNYGCTIPE	5.0	9.0	unscreened	-	4317_7:81335040-81335040 G>A_LARPAVLDDFVSMIDLPNYGCTIPE
3:62518681-62518681 T>G	0.0	4317	RECTAL	-	-	-	-	CADPS	uc003dlm.2,p.N719T|NM_183393,p.N702T|ENST00000383710,p.N719T|ENST00000357948,p.N702T|NM_183394,p.N719T|uc021wzv.1,p.N719T|uc003dlk.1,p.N223T|uc003dll.2,p.N719T|uc003dln.2,p.N702T|NM_003716,p.N719T|ENST00000283269,p.N719T	retained_intron, protein_coding, processed_transcript	uc021wzv.1	nonsynonymous SNV	exon13	c.A2156C	p.N719T	GQVFVLDEYCARNGVRGCHRHLCYL	GQVFVLDEYCARTGVRGCHRHLCYL	7.0	2.0	-	-	4317_3:62518681-62518681 T>G_GQVFVLDEYCARTGVRGCHRHLCYL
9:79910743-79910743 A>G	0.0	4317	RECTAL	-	-	-	-	VPS13A	ENST00000357409,p.S1265G|uc004akr.3,p.S1265G|ENST00000376636,p.S1226G|uc004akp.4,p.S1265G|uc004aks.3,p.S1226G|ENST00000360280,p.S1265G|ENST00000376634,p.S1265G|ENST00000493341,p.S101G|uc004akq.4,p.S1265G|NM_001018038,p.S1265G|NM_001018037,p.S1226G|NM_015186,p.S1265G|NM_033305,p.S1265G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004aks.3	nonsynonymous SNV	exon32	c.A3676G	p.S1226G	PPPVIDLITIKLSEMRLYRSRFIND	PPPVIDLITIKLGEMRLYRSRFIND	9.0	4.0	-	-	4317_9:79910743-79910743 A>G_PPPVIDLITIKLGEMRLYRSRFIND
10:73956590-73956590 T>G	1.0	4317	RECTAL	-	-	-	-	ASCC1	ENST00000317168,p.E156D|NM_001198798,p.E156D|uc001jst.2,p.E184D|uc001jsu.2,p.E156D|uc010qju.2,p.E177D|uc001jsr.2,p.E71D|NM_001198800,p.E156D|NM_001198799,p.E184D|ENST00000531048,p.E90D|ENST00000317126,p.E156D|ENST00000342444,p.E184D|uc031pvv.1,p.E156D|uc021pso.1,p.E156D|ENST00000394915,p.E184D|ENST00000545550,p.E178D|ENST00000394919,p.E156D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pvv.1	nonsynonymous SNV	exon5	c.A468C	p.E156D	VEVQEGFLRFQEEVLAKCSMDHGVD	VEVQEGFLRFQEDVLAKCSMDHGVD	8.0	2.0	-	-	4317_10:73956590-73956590 T>G_VEVQEGFLRFQEDVLAKCSMDHGVD
3:71021817-71021817 C>T	1.0	4317	RECTAL	-	-	ID=COSM268496;OCCURENCE=1(large_intestine)	1	FOXP1	uc003doo.3,p.R513H|uc003dom.3,p.R438H|NM_001244808,p.R513H|NM_001244815,p.R516H|uc003doi.3,p.R414H|uc003dol.3,p.R514H|ENST00000475937,p.R514H|NM_001244812,p.R438H|ENST00000498215,p.R514H|uc003dok.3,p.R440H|ENST00000491238,p.R516H|uc021xan.1,p.R514H|uc003doj.3,p.R516H|uc003dor.1,p.R291H|NM_001244816,p.R514H|NM_001244813,p.R414H|ENST00000497355,p.R410H|NM_032682,p.R514H|ENST00000493089,p.R513H|NM_001244814,p.R514H|ENST00000318789,p.R514H|uc003dop.3,p.R514H|ENST00000327590,p.R514H|ENST00000484350,p.R438H	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xan.1	nonsynonymous SNV	exon17	c.G1541A	p.R514H	FRRNAATWKNAVRHNLSLHKCFVRV	FRRNAATWKNAVHHNLSLHKCFVRV	10.0	9.0	-	-	4317_3:71021817-71021817 C>T_FRRNAATWKNAVHHNLSLHKCFVRV
16:70365670-70365670 G>T	0.0	4317	RECTAL	-	-	-	-	DDX19B	uc031qwx.1,p.G248C|uc002eyp.4,p.G326C|uc002eyo.4,p.G357C|NM_001014449,p.G248C|uc010vlx.3,p.G206C|NM_007242,p.G357C|NM_001257175,p.G206C|NM_001257173,p.G248C|uc010vlv.3,p.G331C|ENST00000288071,p.G357C|ENST00000563206,p.G362C|ENST00000451014,p.G331C|ENST00000563392,p.G248C|uc002eyq.4,p.G248C|ENST00000568625,p.G248C|ENST00000355992,p.G326C|NM_001257174,p.G248C|NM_001257172,p.G331C|NM_001014451,p.G326C|ENST00000393657,p.G248C|uc010vlw.3,p.G248C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwx.1	nonsynonymous SNV	exon8	c.G742T	p.G248C	TASWLAAELSKEGHQVALLSGEMMV	TASWLAAELSKECHQVALLSGEMMV	9.0	2.0	-	-	4317_16:70365670-70365670 G>T_TASWLAAELSKECHQVALLSGEMMV
3:141011440-141011440 C>T	0.0	4317	RECTAL	-	-	-	-	PXYLP1	ENST00000393007,p.A263V|ENST00000504264,p.A262V|ENST00000393010,p.A279V|ENST00000508812,p.A270V|NM_001282728,p.A241V|NM_152282,p.A279V|ENST00000502783,p.A241V|uc003etv.3,p.A279V|uc011bna.2,p.A241V|ENST00000286353,p.A279V|uc003etu.3,p.A279V|uc011bnb.2,p.A262V|NM_001037172,p.A279V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bnb.2	nonsynonymous SNV	exon5	c.C785T	p.A262V	KNSQLEKTYGEMAKIVDVPTKQLRA	KNSQLEKTYGEMVKIVDVPTKQLRA	7.0	10.0	-	-	4317_3:141011440-141011440 C>T_KNSQLEKTYGEMVKIVDVPTKQLRA
14:81382782-81382782 A>C	1.0	4317	RECTAL	-	-	-	-	CEP128	ENST00000281129,p.V37G|uc001xva.1,p.V37G|NM_152446,p.V37G|uc031qpo.1,p.V37G|uc010ata.1,p.V37G|ENST00000555529,p.V37G|uc001xux.2,p.V37G|ENST00000216517,p.V37G|ENST00000556042,p.V37G|ENST00000555265,p.V37G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qpo.1	nonsynonymous SNV	exon3	c.T110G	p.V37G	THRGTRSLPTVEVTEKVNTITSTLQ	THRGTRSLPTVEGTEKVNTITSTLQ	6.0	8.0	-	-	4317_14:81382782-81382782 A>C_THRGTRSLPTVEGTEKVNTITSTLQ
17:29559857-29559857 T>G	0.0	4317	RECTAL	-	-	-	1	NF1	ENST00000579081,p.L1186V|uc010csn.2,p.L1012V|uc002hgg.3,p.L1152V|NM_000267,p.L1152V|ENST00000356175,p.L1152V|uc002hgi.1,p.L185V|NM_001042492,p.L1152V|ENST00000456735,p.L818V|uc002hgh.3,p.L1152V|ENST00000358273,p.L1152V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010csn.2	nonsynonymous SNV	exon24	c.T3034G	p.L1012V	SLRHCTVLAMSNLLNANVDSGLMHS	SLRHCTVLAMSNVLNANVDSGLMHS	10.0	5.0	-	-	4317_17:29559857-29559857 T>G_SLRHCTVLAMSNVLNANVDSGLMHS
3:129159200-129159200 T>A	1.0	4317	RECTAL	-	-	-	-	IFT122	uc003emm.3,p.D9E|uc003eml.3,p.D9E|uc011bkx.1,p.D9E|NM_052990,p.D9E|ENST00000507564,p.D9E|ENST00000348417,p.D9E|uc010htc.3,p.D9E|uc003emn.3,p.D9E|ENST00000349441,p.D9E|ENST00000504021,p.D9E|NM_052985,p.D9E|NM_018262,p.D9E|NM_001280541,p.D9E|NM_052989,p.D9E|uc003emo.3,p.D9E|ENST00000512220,p.D9E|ENST00000296266,p.D9E|ENST00000347300,p.D9E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bkx.1	nonsynonymous SNV	exon1	c.T27A	p.D9E	MRAVLTWRDKAEHCINDIAFK	MRAVLTWREKAEHCINDIAFK	9.0	5.0	-	-	4317_3:129159200-129159200 T>A_MRAVLTWREKAEHCINDIAFK
4:187627834-187627834 C>T	1.0	4317	RECTAL	-	-	-	1	FAT1	uc003izf.3,p.G1050S|ENST00000441802,p.G1050S|NM_005245,p.G1050S|uc010iso.1,p.G1050S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010iso.1	nonsynonymous SNV	exon2	c.G3148A	p.G1050S	VEKGTVKEDAPVGSLVMTVSAHDED	VEKGTVKEDAPVSSLVMTVSAHDED	10.0	6.0	-	-	4317_4:187627834-187627834 C>T_VEKGTVKEDAPVSSLVMTVSAHDED
19:36278357-36278357 C>A	1.0	4317	RECTAL	-	-	-	-	ARHGAP33	NM_001172630,p.P828T|ENST00000007510,p.P964T|uc002obs.2,p.P803T|ENST00000314737,p.P803T|uc002obt.2,p.P828T|ENST00000378944,p.P828T|uc002obv.1,p.P552T|NM_052948,p.P803T	retained_intron, protein_coding, processed_transcript	uc002obv.1	nonsynonymous SNV	exon8	c.C1654A	p.P552T	PPNSLAHPGAWVPGPPPYLPRQQSD	PPNSLAHPGAWVTGPPPYLPRQQSD	9.0	8.0	-	-	4317_19:36278357-36278357 C>A_PPNSLAHPGAWVTGPPPYLPRQQSD
5:135561876-135561879 CTTC>-	0.0	4317	RECTAL	-	-	-	-	TRPC7	uc003lbn.2,p.G702fs|NM_001167576,p.G586fs|NM_020389,p.G702fs|uc010jei.2,p.G586fs|NM_001167577,p.G641fs|uc010jej.2,p.G253fs|ENST00000513104,p.G702fs|uc010jef.2,p.G638fs|ENST00000355180,p.G641fs|uc010jeh.2,p.G641fs|ENST00000426057,p.G586fs	retained_intron, protein_coding, nonsense_mediated_decay	uc010jej.2	frameshift deletion	exon5	c.758_761del	p.G253fs	ARAKLWLSYFDEGRTLPAPFNLVPS	ARAKLWLSYFDEELYLLLLI	1.0	9.0	unscreened	-	4317_5:135561876-135561879 CTTC>-_ARAKLWLSYFDEELYLLLLI
19:10571763-10571763 G>T	0.0	4317	RECTAL	-	-	-	-	PDE4A	ENST00000589073,p.V82F	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000589073	nonsynonymous SNV	exon3	c.G244T	p.V82F	HPRCGSPWGLQPVPHQHQFGAGAHV	HPRCGSPWGLQPFPHQHQFGAGAHV	8.0	3.0	unscreened	-	4317_19:10571763-10571763 G>T_HPRCGSPWGLQPFPHQHQFGAGAHV
5:139216788-139216788 G>A	1.0	4317	RECTAL	-	-	ID=COSM1061577;OCCURENCE=1(endometrium)	-	PSD2	ENST00000274710,p.A544T|NM_032289,p.A544T|uc003leu.1,p.A544T	protein_coding	uc003leu.1	nonsynonymous SNV	exon11	c.G1630A	p.A544T	TPRGRRGWKKFYAVLKGTILYLQKD	TPRGRRGWKKFYTVLKGTILYLQKD	4.0	10.0	-	-	4317_5:139216788-139216788 G>A_TPRGRRGWKKFYTVLKGTILYLQKD
2:131897821-131897821 G>T	1.0	4317	RECTAL	-	-	-	-	PLEKHB2	uc010zaq.2,p.M124I|uc031rpf.1,p.M125I|NM_001267068,p.M124I|NM_001267067,p.M125I|ENST00000439822,p.M124I	retained_intron, protein_coding, processed_transcript	uc031rpf.1	nonsynonymous SNV	exon5	c.G375T	p.M125I	ELKLSTLRMGRRMPCPTSTHMQDFM	ELKLSTLRMGRRIPCPTSTHMQDFM	8.0	8.0	-	-	4317_2:131897821-131897821 G>T_ELKLSTLRMGRRIPCPTSTHMQDFM
3:31710272-31710272 C>A	0.0	4317	RECTAL	-	-	-	-	OSBPL10	NM_001174060,p.C589F|uc011axf.2,p.C589F|uc021wuu.1,p.C653F|NM_017784,p.C653F|uc003ceu.1,p.C410F|ENST00000438237,p.C589F|ENST00000396556,p.C653F	retained_intron, protein_coding, processed_transcript	uc021wuu.1	nonsynonymous SNV	exon10	c.G1958T	p.C653F	AEVKHNPTNTIVCKAHGEWNGTLEF	AEVKHNPTNTIVFKAHGEWNGTLEF	9.0	3.0	-	-	4317_3:31710272-31710272 C>A_AEVKHNPTNTIVFKAHGEWNGTLEF
4:104030083-104030083 T>A	1.0	4317	RECTAL	-	-	-	-	CENPE	NM_001813,p.N2630Y|NM_001286734,p.N2509Y|ENST00000380026,p.N2509Y|uc003hxc.1,p.N2509Y|ENST00000265148,p.N2630Y|uc003hxb.1,p.N2630Y	retained_intron, protein_coding, processed_transcript	uc003hxc.1	nonsynonymous SNV	exon46	c.A7525T	p.N2509Y	KKQITPSQCKERNLQDPVPKESPKS	KKQITPSQCKERYLQDPVPKESPKS	5.0	6.0	-	-	4317_4:104030083-104030083 T>A_KKQITPSQCKERYLQDPVPKESPKS
2:31155048-31155048 C>G	0.0	4317	RECTAL	-	-	-	-	GALNT14	uc002rnr.3,p.R315P|NM_024572,p.R315P|ENST00000324589,p.R320P|ENST00000420311,p.R280P|uc002rnq.3,p.R295P|uc010ezo.2,p.R282P|ENST00000406653,p.R295P|ENST00000356174,p.R282P|ENST00000349752,p.R315P|ENST00000430167,p.R282P|NM_001253827,p.R295P|uc010ymr.2,p.R280P|uc002rns.3,p.R320P|NM_001253826,p.R320P	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ymr.2	nonsynonymous SNV	exon11	c.G839C	p.R280P	DIWGGENFEISFRVWMCGGSLEIVP	DIWGGENFEISFPVWMCGGSLEIVP	4.0	4.0	unscreened	-	4317_2:31155048-31155048 C>G_DIWGGENFEISFPVWMCGGSLEIVP
12:98880902-98880902 A>-	0.0	4317	RECTAL	-	-	-	-	LOC643770	uc001tff.2,p.F74fs|ENST00000501499,p.F74fs	protein_coding, lincRNA	uc001tff.2	frameshift deletion	exon4	c.222delT	p.F74fs	NFKSKLDKFFFFFTQISPC	NFKSKLDKFFFFLHRYHHV	1.0	7.0	unscreened	-	4317_12:98880902-98880902 A>-_NFKSKLDKFFFFLHRYHHV
5:150675796-150675796 G>A	0.0	4317	RECTAL	-	-	-	-	SLC36A3	uc003ltv.2,p.L29F	retained_intron, protein_coding	uc003ltv.2	nonsynonymous SNV	exon1	c.C85T	p.L29F	QVGPVSLLAIGVLTVHCMVILLNCA	QVGPVSLLAIGVFTVHCMVILLNCA	1.0	5.0	unscreened	-	4317_5:150675796-150675796 G>A_QVGPVSLLAIGVFTVHCMVILLNCA
5:150675796-150675796 G>A	0.0	4317	RECTAL	-	-	-	-	SLC36A3	ENST00000377713,p.L85F|NM_181774,p.L85F|uc003ltx.2,p.L85F|NM_001145017,p.L85F|uc003ltw.2,p.L85F|ENST00000335230,p.L85F	retained_intron, protein_coding	uc003ltx.2	nonsynonymous SNV	exon3	c.C253T	p.L85F	LVGPVSLLAIGVLTVHCMVILLNCA	LVGPVSLLAIGVFTVHCMVILLNCA	1.0	5.0	unscreened	-	4317_5:150675796-150675796 G>A_LVGPVSLLAIGVFTVHCMVILLNCA
7:112724476-112724476 C>A	0.0	4317	RECTAL	-	-	-	-	GPR85	NM_001146266,p.G101W|ENST00000449735,p.G101W|ENST00000424100,p.G101W|NM_018970,p.G101W|uc003vgq.2,p.G101W|uc003vgp.1,p.G101W|ENST00000449591,p.G101W|uc010ljv.2,p.G101W|uc010ljw.1,p.G101W|ENST00000297146,p.G101W|uc022akd.1,p.G101W|NM_001146267,p.G101W|ENST00000501255,p.G101W|NM_001146265,p.G101W	protein_coding, processed_transcript	uc022akd.1	nonsynonymous SNV	exon1	c.G301T	p.G101W	YGTLTCKVIAFLGVLSCFHTAFMLF	YGTLTCKVIAFLWVLSCFHTAFMLF	2.0	3.0	unscreened	-	4317_7:112724476-112724476 C>A_YGTLTCKVIAFLWVLSCFHTAFMLF
15:66727453-66727453 A>G	1.0	4317	RECTAL	-	-	-	1	MAP2K1	NM_002755,p.K57E|uc010bhq.3,p.K57E|uc010ujp.2,p.K35E|ENST00000307102,p.K57E	retained_intron, protein_coding	uc010ujp.2	nonsynonymous SNV	exon2	c.A103G	p.K35E	QQRKRLEAFLTQKQKVGELKDDDFE	QQRKRLEAFLTQEQKVGELKDDDFE	8.0	8.0	-	-	4317_15:66727453-66727453 A>G_QQRKRLEAFLTQEQKVGELKDDDFE
X:120009184-120009184 C>T	0.0	4317	RECTAL	-	-	-	-	CT47B1	uc011muc.2,p.R114Q|NM_001145718,p.R114Q|ENST00000371311,p.R114Q	protein_coding	uc011muc.2	nonsynonymous SNV	exon1	c.G341A	p.R114Q	EAANFDLAVATRRYPAAGIGFVFLY	EAANFDLAVATRQYPAAGIGFVFLY	1.0	4.0	unscreened	-	4317_X:120009184-120009184 C>T_EAANFDLAVATRQYPAAGIGFVFLY
5:101599479-101599479 C>T	0.0	4317	RECTAL	-	-	-	-	SLCO4C1	uc003knm.3,p.G270S|NM_180991,p.G270S|ENST00000310954,p.G270S	protein_coding	uc003knm.3	nonsynonymous SNV	exon4	c.G808A	p.G270S	VPTHKSSLYIGTGYAMSILGPAIGY	VPTHKSSLYIGTSYAMSILGPAIGY	1.0	10.0	unscreened	-	4317_5:101599479-101599479 C>T_VPTHKSSLYIGTSYAMSILGPAIGY
14:90744765-90744765 A>T	1.0	4317	RECTAL	-	-	-	-	NRDE2	uc001xyi.2,p.M1137K|ENST00000354366,p.M1137K|uc001xyj.2,p.M906K|uc010atp.1,p.M642K|ENST00000357904,p.M906K|NM_017970,p.M1137K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010atp.1	nonsynonymous SNV	exon10	c.T1925A	p.M642K	LYLDAVEYFPDEMQEILDLMTEKEL	LYLDAVEYFPDEKQEILDLMTEKEL	6.0	3.0	-	-	4317_14:90744765-90744765 A>T_LYLDAVEYFPDEKQEILDLMTEKEL
10:50178330-50178330 G>A	0.0	4317	RECTAL	0.0009	-	-	-	WDFY4	uc009xob.3,p.R431Q|uc010qgn.1,p.R438Q|uc001jha.4,p.R2975Q|NM_020945,p.R2975Q|ENST00000325239,p.R2975Q	protein_coding, processed_transcript	uc010qgn.1	nonsynonymous SNV	exon11	c.G1313A	p.R438Q	SMTKGRPRGLRLRQALYGHTQAVTC	SMTKGRPRGLRLQQALYGHTQAVTC	5.0	1.0	unscreened	-	4317_10:50178330-50178330 G>A_SMTKGRPRGLRLQQALYGHTQAVTC
7:22197478-22197478 T>G	0.0	4317	RECTAL	-	-	-	-	RAPGEF5	ENST00000458533,p.K103Q|ENST00000401957,p.K215Q|ENST00000344041,p.K365Q|uc011jyl.1,p.K46Q|NM_012294,p.K365Q|uc003svg.3,p.K365Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011jyl.1	nonsynonymous SNV	exon3	c.A136C	p.K46Q	HRRHTVDEYSPQKKNKALFHQFSLK	HRRHTVDEYSPQQKNKALFHQFSLK	9.0	4.0	-	-	4317_7:22197478-22197478 T>G_HRRHTVDEYSPQQKNKALFHQFSLK
1:204945917-204945917 G>A	1.0	4317	RECTAL	-	-	-	-	NFASC	uc001hbh.3,p.V609M|NM_001160333,p.V603M|NM_001005389,p.V609M|ENST00000403080,p.V609M|uc010pqz.2,p.V603M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010pqz.2	nonsynonymous SNV	exon15	c.G1807A	p.V603M	ELDQDLAKAYLTVLGNCPCSPWH	ELDQDLAKAYLTMLGNCPCSPWH	7.0	10.0	-	-	4317_1:204945917-204945917 G>A_ELDQDLAKAYLTMLGNCPCSPWH
5:149262993-149262993 T>A	1.0	4317	RECTAL	-	-	-	-	PDE6A	uc003lrg.4,p.M712L|ENST00000255266,p.M712L|uc021yfs.1,p.M631L|NM_000440,p.M712L	retained_intron, protein_coding	uc021yfs.1	nonsynonymous SNV	exon15	c.A1891T	p.M631L	YMMLEQTRKEIVMAMMMTACDLSAI	YMMLEQTRKEIVLAMMMTACDLSAI	3.0	10.0	-	-	4317_5:149262993-149262993 T>A_YMMLEQTRKEIVLAMMMTACDLSAI
19:10568698-10568698 T>G	0.0	4317	RECTAL	-	-	-	-	PDE4A	uc002moj.2,p.L341V|NM_001111307,p.L341V|ENST00000592685,p.L319V|ENST00000344979,p.L102V|ENST00000352831,p.L341V|ENST00000591971,p.L117V|ENST00000293683,p.L315V|NM_006202,p.L102V|uc002mok.2,p.L315V|uc021uow.1,p.L319V|uc002mom.2,p.L102V|NM_001111309,p.L280V|uc002mol.2,p.L280V|NM_001243121,p.L319V|ENST00000380702,p.L319V|NM_001111308,p.L315V|ENST00000440014,p.L280V	retained_intron, protein_coding, nonsense_mediated_decay	uc021uow.1	nonsynonymous SNV	exon10	c.T955G	p.L319V	LQPMSQITGLKKLMHSNSLNNSNIP	LQPMSQITGLKKVMHSNSLNNSNIP	8.0	3.0	-	-	4317_19:10568698-10568698 T>G_LQPMSQITGLKKVMHSNSLNNSNIP
20:34061700-34061700 G>A	1.0	4317	RECTAL	-	-	-	-	CEP250	uc021wco.1,p.R465Q|NM_007186,p.R465Q|ENST00000342580,p.R465Q|ENST00000397527,p.R465Q|ENST00000425934,p.R464Q|ENST00000461386,p.R465Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wco.1	nonsynonymous SNV	exon14	c.G1394A	p.R465Q	DLQGEVDSLSKERELLQKAREELRQ	DLQGEVDSLSKEQELLQKAREELRQ	10.0	7.0	-	-	4317_20:34061700-34061700 G>A_DLQGEVDSLSKEQELLQKAREELRQ
2:179614902-179614902 T>G	0.0	4317	RECTAL	-	-	-	-	TTN	NM_133379,p.Q4075H|uc002unb.3,p.Q4075H|ENST00000360870,p.Q4075H	retained_intron, protein_coding	uc002unb.3	nonsynonymous SNV	exon46	c.A12225C	p.Q4075H	FDQAKGAHPSMSQEGQTNLHLLKTN	FDQAKGAHPSMSHEGQTNLHLLKTN	7.0	1.0	unscreened	-	4317_2:179614902-179614902 T>G_FDQAKGAHPSMSHEGQTNLHLLKTN
4:128637485-128637485 T>G	0.0	4317	RECTAL	-	-	-	-	INTU	ENST00000335251,p.L908R|uc003ifk.2,p.L908R|NM_015693,p.L908R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ifk.2	nonsynonymous SNV	exon16	c.T2723G	p.L908R	APPVMAYWVVGRLFLHPKPQELYVC	APPVMAYWVVGRRFLHPKPQELYVC	5.0	4.0	unscreened	-	4317_4:128637485-128637485 T>G_APPVMAYWVVGRRFLHPKPQELYVC
21:34963489-34963489 T>G	1.0	4317	RECTAL	-	-	-	-	CRYZL1	ENST00000381540,p.E311D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000381540	nonsynonymous SNV	exon12	c.A933C	p.E311D	KYLSTYLKGCDGEVINWCFQTSVG	KYLSTYLKGCDGDVINWCFQTSVG	9.0	1.0	unscreened	-	4317_21:34963489-34963489 T>G_KYLSTYLKGCDGDVINWCFQTSVG
4:106162514-106162514 A>T	0.0	4317	RECTAL	-	-	-	1	TET2	uc003hxk.3,p.D1143V|NM_001127208,p.D1143V|ENST00000513237,p.D1164V|ENST00000380013,p.D1143V|uc010ilp.2,p.D1143V|uc011cez.2,p.D1164V|ENST00000540549,p.D1143V|ENST00000413648,p.D1143V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cez.2	nonsynonymous SNV	exon4	c.A3491T	p.D1164V	PSCRCVEQIIEKDEGPFYTHLGAGP	PSCRCVEQIIEKVEGPFYTHLGAGP	8.0	2.0	-	-	4317_4:106162514-106162514 A>T_PSCRCVEQIIEKVEGPFYTHLGAGP
8:22570951-22570951 G>A	0.0	4317	RECTAL	-	-	-	-	PEBP4	uc003xcn.1,p.L206F|ENST00000256404,p.L206F|NM_144962,p.L206F	protein_coding, processed_transcript	uc003xcn.1	nonsynonymous SNV	exon7	c.C616T	p.L206F	QFMTQNYQDSPTLQAPRERASEPKH	QFMTQNYQDSPTFQAPRERASEPKH	5.0	9.0	unscreened	-	4317_8:22570951-22570951 G>A_QFMTQNYQDSPTFQAPRERASEPKH
1:247921135-247921135 C>T	0.0	4317	RECTAL	-	-	-	-	OR1C1	NM_012353,p.V192I|ENST00000408896,p.V192I|uc010pza.2,p.V192I	protein_coding	uc010pza.2	nonsynonymous SNV	exon1	c.G574A	p.V192I	DLNPLLQLSCSDVSFNVMIIFAVGG	DLNPLLQLSCSDISFNVMIIFAVGG	1.0	10.0	unscreened	-	4317_1:247921135-247921135 C>T_DLNPLLQLSCSDISFNVMIIFAVGG
8:108297042-108297042 C>T	0.0	4317	RECTAL	-	-	-	-	ANGPT1	uc003ymn.3,p.G358E|ENST00000517746,p.G358E|ENST00000297450,p.G357E|uc003ymo.3,p.G357E|NM_001146,p.G358E|NM_001199859,p.G357E|ENST00000520734,p.G158E|ENST00000520052,p.G157E|uc003ymp.4,p.G157E|uc011lhv.2,p.G158E	retained_intron, protein_coding, processed_transcript	uc011lhv.2	nonsynonymous SNV	exon6	c.G473A	p.G158E	MGFGNPSGEYWLGNEFIFAITSQRQ	MGFGNPSGEYWLENEFIFAITSQRQ	3.0	1.0	unscreened	-	4317_8:108297042-108297042 C>T_MGFGNPSGEYWLENEFIFAITSQRQ
19:20807466-20807466 A>G	0.0	4317	RECTAL	-	-	-	-	ZNF626	ENST00000601440,p.F406S|uc002npb.1,p.F406S|uc002npc.1,p.F330S|NM_001076675,p.F406S	protein_coding	uc002npc.1	nonsynonymous SNV	exon2	c.T989C	p.F330S	EKPYKCEECGKAFKYSSNLTTHKKI	EKPYKCEECGKASKYSSNLTTHKKI	7.0	8.0	-	-	4317_19:20807466-20807466 A>G_EKPYKCEECGKASKYSSNLTTHKKI
1:235969930-235969930 C>A	1.0	4317	RECTAL	-	-	-	-	LYST	NM_000081,p.V836F|uc001hxl.2,p.V836F|uc001hxj.3,p.V836F|ENST00000389793,p.V836F|ENST00000389794,p.V836F|NM_001301365,p.V836F|ENST00000536965,p.V836F	retained_intron, protein_coding, processed_transcript	uc001hxl.2	nonsynonymous SNV	exon6	c.G2506T	p.V836F	IISLGEQQKDASVPDIDGIDIEQKE	IISLGEQQKDASFPDIDGIDIEQKE	7.0	9.0	-	-	4317_1:235969930-235969930 C>A_IISLGEQQKDASFPDIDGIDIEQKE
14:103576513-103576513 G>C	0.0	4317	RECTAL	-	-	-	-	EXOC3L4	uc001ymk.3,p.E708Q|ENST00000380069,p.E708Q|NM_001077594,p.E708Q	retained_intron, protein_coding, nonsense_mediated_decay	uc001ymk.3	nonsynonymous SNV	exon11	c.G2122C	p.E708Q	GAEAPRGRVLFEEIKVPSAMAVLIT	GAEAPRGRVLFEQIKVPSAMAVLIT	7.0	5.0	-	-	4317_14:103576513-103576513 G>C_GAEAPRGRVLFEQIKVPSAMAVLIT
2:63283035-63283035 G>A	0.0	4317	RECTAL	-	-	-	-	OTX1	NM_001199770,p.A217T|uc002scd.3,p.A217T|ENST00000366671,p.A217T|NM_014562,p.A217T|uc021vim.1,p.A217T|ENST00000282549,p.A217T|uc010ypt.2,p.A151T	retained_intron, protein_coding, nonsense_mediated_decay	uc021vim.1	nonsynonymous SNV	exon5	c.G649A	p.A217T	CMQRSVAAGAATAAASYPMSYGQGG	CMQRSVAAGAATTAASYPMSYGQGG	1.0	7.0	unscreened	-	4317_2:63283035-63283035 G>A_CMQRSVAAGAATTAASYPMSYGQGG
11:128805584-128805584 G>T	0.0	4317	RECTAL	-	-	-	-	TP53AIP1	uc021qsd.1,p.P89T|NM_001195194,p.P89T|ENST00000530777,p.P89T	retained_intron, protein_coding, nonsense_mediated_decay	uc021qsd.1	nonsynonymous SNV	exon3	c.C265A	p.P89T	SATVWILTGLSRPFLPGATVLRDRP	SATVWILTGLSRTFLPGATVLRDRP	1.0	6.0	unscreened	-	4317_11:128805584-128805584 G>T_SATVWILTGLSRTFLPGATVLRDRP
X:32663098-32663098 G>T	1.0	4317	RECTAL	-	-	-	-	DMD	uc004ddb.1,p.Q370K|NM_000109,p.Q370K|NM_004009,p.Q374K|ENST00000288447,p.Q370K|uc004dcz.2,p.Q255K|NM_004006,p.Q378K|NM_004010,p.Q255K|ENST00000378677,p.Q374K|uc004dda.1,p.Q378K|uc004ddf.3,p.Q370K|uc004dcy.1,p.Q374K|ENST00000357033,p.Q378K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004ddf.3	nonsynonymous SNV	exon10	c.C1108A	p.Q370K	GEISNDVEVVKDQFHTHEGYMMDLT	GEISNDVEVVKDKFHTHEGYMMDLT	6.0	5.0	-	-	4317_X:32663098-32663098 G>T_GEISNDVEVVKDKFHTHEGYMMDLT
3:167023503-167023503 T>G	0.0	4317	RECTAL	-	-	-	-	ZBBX	uc003feq.3,p.K522N|uc003fep.3,p.K551N|NM_024687,p.K551N|NM_001199201,p.K551N|ENST00000455345,p.K551N|NM_001199202,p.K522N|ENST00000392766,p.K551N|ENST00000392767,p.K551N|ENST00000307529,p.K551N|uc011bpc.2,p.K551N|ENST00000392764,p.K522N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bpc.2	nonsynonymous SNV	exon17	c.A1653C	p.K551N	KAPIEEKLSQDIKESLELSNLYKRP	KAPIEEKLSQDINESLELSNLYKRP	3.0	1.0	unscreened	-	4317_3:167023503-167023503 T>G_KAPIEEKLSQDINESLELSNLYKRP
17:29631452-29631452 T>C	0.0	4317	RECTAL	-	-	-	-	EVI2B	ENST00000544462,p.I407M|ENST00000577894,p.I392M|ENST00000330927,p.I392M|uc021tuk.1,p.I392M|uc002hgk.2,p.I392M|NM_006495,p.I392M|uc010csq.2,p.I407M	protein_coding	uc021tuk.1	nonsynonymous SNV	exon1	c.A1176G	p.I392M	LNQDCGDHKSEIIQSFPPLDSLNLP	LNQDCGDHKSEIMQSFPPLDSLNLP	5.0	2.0	-	-	4317_17:29631452-29631452 T>C_LNQDCGDHKSEIMQSFPPLDSLNLP
2:179582417-179582417 T>A	0.0	4317	RECTAL	-	-	-	-	TTN	ENST00000342992,p.K7151M|NM_001267550,p.K8395M|NM_001256850,p.K8078M|uc031rqc.1,p.K8395M|uc002umz.1,p.K3812M|ENST00000591111,p.K8078M|uc021vsy.2,p.K7151M|uc031rqd.1,p.K8078M|NM_133378,p.K7151M|ENST00000589042,p.K8395M	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon85	c.A24233T	p.K8078M	INGSEPLQVSWYKDGVLLKDDANLQ	INGSEPLQVSWYMDGVLLKDDANLQ	7.0	7.0	unscreened	-	4317_2:179582417-179582417 T>A_INGSEPLQVSWYMDGVLLKDDANLQ
20:20150026-20150026 A>G	0.0	4317	RECTAL	-	-	-	-	CFAP61	ENST00000245957,p.N436S|ENST00000451767,p.N436S|uc002wru.3,p.N436S|NM_001167816,p.N436S|ENST00000377306,p.N436S|uc010zsf.1,p.N436S|NM_015585,p.N436S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zsf.1	nonsynonymous SNV	exon12	c.A1307G	p.N436S	LPHLTPEFFLIQNFVKMVPFNTCTL	LPHLTPEFFLIQSFVKMVPFNTCTL	4.0	9.0	unscreened	-	4317_20:20150026-20150026 A>G_LPHLTPEFFLIQSFVKMVPFNTCTL
3:39942399-39942401 AAG>-	1.0	4317	RECTAL	-	-	-	-	MYRIP	uc003cka.3,p.31_32del|NM_001284424,p.31_32del|ENST00000425621,p.31_32del|ENST00000302541,p.31_32del|uc010hhx.1,p.31_32del|uc010hhv.3,p.31_32del|NM_015460,p.31_32del|NM_001284423,p.31_32del|ENST00000458441,p.31_32del|ENST00000458292,p.31_32del|ENST00000444716,p.31_32del	protein_coding, processed_transcript, nonsense_mediated_decay	uc010hhx.1	nonframeshift deletion	exon2	c.92_94del	p.31_32del	LQVVQRDFNLRKKEEERLSELKQKL	LQVVQRDFNLRKKEERLSELKQKLD	5.0	10.0	-	-	4317_3:39942399-39942401 AAG>-_LQVVQRDFNLRKKEERLSELKQKLD
16:113017-113017 T>C	1.0	4317	RECTAL	-	-	-	-	RHBDF1	ENST00000454039,p.E209G|uc002cfl.4,p.E209G|uc010uty.2,p.E232G|ENST00000262316,p.E209G|NM_022450,p.E209G|uc010utz.2,p.E209G	retained_intron, protein_coding, nonsense_mediated_decay	uc010utz.2	nonsynonymous SNV	exon5	c.A626G	p.E209G	SGFHRLPRRRKRESVAKMSFRAAAA	SGFHRLPRRRKRGSVAKMSFRAAAA	9.0	3.0	-	-	4317_16:113017-113017 T>C_SGFHRLPRRRKRGSVAKMSFRAAAA
14:77944602-77944602 G>A	1.0	4317	RECTAL	0.0009	-	-	-	ISM2	ENST00000342219,p.T394M|uc001xtz.3,p.T394M|ENST00000412904,p.T313M|uc001xty.3,p.T306M|ENST00000393684,p.T306M|ENST00000429906,p.T313M|NM_199296,p.T394M	retained_intron, protein_coding, nonsense_mediated_decay	uc001xtz.3	nonsynonymous SNV	exon6	c.C1181T	p.T394M	PSEEWKLLARNATDMHDQDVDSCEK	PSEEWKLLARNAMDMHDQDVDSCEK	5.0	10.0	-	-	4317_14:77944602-77944602 G>A_PSEEWKLLARNAMDMHDQDVDSCEK
1:204945917-204945917 G>A	1.0	4317	RECTAL	-	-	-	-	NFASC	NM_015090,p.V620M|NM_001160332,p.V620M|uc001hbk.1,p.V430M|ENST00000404076,p.V603M|ENST00000404907,p.V620M|uc010pra.2,p.V620M|ENST00000360049,p.V620M|ENST00000539706,p.V620M|ENST00000367171,p.V609M|ENST00000513543,p.V620M|uc001hbi.3,p.V620M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010pra.2	nonsynonymous SNV	exon16	c.G1858A	p.V620M	ELDQDLAKAYLTVLGRPDRPRDLEL	ELDQDLAKAYLTMLGRPDRPRDLEL	7.0	10.0	-	-	4317_1:204945917-204945917 G>A_ELDQDLAKAYLTMLGRPDRPRDLEL
X:32381009-32381009 A>C	0.0	4317	RECTAL	-	-	-	-	DMD	uc004dda.1,p.L1741V|NM_004009,p.L1737V|uc004ddb.1,p.L1733V|NM_004012,p.L397V|uc004dcx.2,p.L400V|ENST00000357033,p.L1741V|uc004dcw.2,p.L397V|NM_004011,p.L400V|NM_000109,p.L1733V|NM_004006,p.L1741V|ENST00000378677,p.L1737V|uc004dcy.1,p.L1737V|NM_004010,p.L1618V|uc004dcz.2,p.L1618V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004ddb.1	nonsynonymous SNV	exon37	c.T5197G	p.L1733V	PKVDSTRDQAANLMANRGDHCRKLV	PKVDSTRDQAANVMANRGDHCRKLV	6.0	3.0	-	-	4317_X:32381009-32381009 A>C_PKVDSTRDQAANVMANRGDHCRKLV
11:5862960-5862960 A>C	0.0	4317	RECTAL	-	-	-	-	OR52E6	ENST00000329322,p.S56R|uc010qzq.2,p.S56R|ENST00000379946,p.S60R|NM_001005167,p.S56R	protein_coding	uc010qzq.2	nonsynonymous SNV	exon1	c.T168G	p.S56R	NAAIFFVIQTEQSLHEPMYYCLAML	NAAIFFVIQTEQRLHEPMYYCLAML	1.0	1.0	unscreened	-	4317_11:5862960-5862960 A>C_NAAIFFVIQTEQRLHEPMYYCLAML
4:145041708-145041708 T>C	0.0	4317	RECTAL	0.4	rs7687256	ID=COSM3683234;OCCURENCE=2(thyroid)	-	GYPA	uc003ijn.2,p.E24G|NM_002099,p.E24G|uc031shj.1,p.E24G|uc003ijp.4,p.E24G|ENST00000504786,p.E24G|uc010ios.2,p.E24G|uc003ijo.4,p.E24G|ENST00000360771,p.E24G|ENST00000512064,p.E24G|uc010ioq.3,p.E24G|ENST00000503627,p.E24G	retained_intron, protein_coding, nonsense_mediated_decay	uc031shj.1	nonsynonymous SNV	exon2	c.A71G	p.E24G	SEIVSISALSTTEVAMHTSTSSSVT	SEIVSISALSTTGVAMHTSTSSSVT	1.0	8.0	unscreened	-	4317_4:145041708-145041708 T>C_SEIVSISALSTTGVAMHTSTSSSVT
5:179296801-179296801 A>G	0.0	4317	RECTAL	-	-	-	-	TBC1D9B	uc003mlk.1,p.L78P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003mlk.1	nonsynonymous SNV	exon2	c.T233C	p.L78P	MSGMYHGDLTEKLKVLYKLHLPPGE	MSGMYHGDLTEKPKVLYKLHLPPGE	10.0	4.0	-	-	4317_5:179296801-179296801 A>G_MSGMYHGDLTEKPKVLYKLHLPPGE
9:36170445-36170445 C>T	0.0	4317	RECTAL	-	-	-	-	CCIN	ENST00000335119,p.R316W|NM_005893,p.R316W|uc003zzb.4,p.R316W	protein_coding	uc003zzb.4	nonsynonymous SNV	exon1	c.C946T	p.R316W	ENLWMKLSDMPYRAAALSATSAGRY	ENLWMKLSDMPYWAAALSATSAGRY	2.0	10.0	unscreened	-	4317_9:36170445-36170445 C>T_ENLWMKLSDMPYWAAALSATSAGRY
4:111397673-111397673 C>A	0.0	4317	RECTAL	-	-	-	-	ENPEP	NM_001977,p.L35I|ENST00000265162,p.L35I|uc003iab.4,p.L35I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003iab.4	nonsynonymous SNV	exon1	c.C103A	p.L35I	CAVVVGVGLIVGLAVGLTRSCDSSG	CAVVVGVGLIVGIAVGLTRSCDSSG	5.0	7.0	unscreened	-	4317_4:111397673-111397673 C>A_CAVVVGVGLIVGIAVGLTRSCDSSG
15:32450694-32450694 G>A	0.0	4317	RECTAL	-	rs200714865	-	-	CHRNA7	ENST00000455693,p.R46H|uc010baj.1,p.R87H|ENST00000454250,p.R256H|NM_001190455,p.R256H|uc010bak.3,p.R142H|uc010baf.4,p.R46H|uc001zft.4,p.R227H|uc021sic.2,p.R256H|ENST00000306901,p.R227H|NM_000746,p.R227H	protein_coding, nonsense_mediated_decay	uc021sic.2	nonsynonymous SNV	exon7	c.G767A	p.R256H	EPYPDVTFTVTMRRRTLYYGLNLLI	EPYPDVTFTVTMHRRTLYYGLNLLI	3.0	8.0	unscreened	-	4317_15:32450694-32450694 G>A_EPYPDVTFTVTMHRRTLYYGLNLLI
18:76754231-76754231 A>C	0.0	4317	RECTAL	-	-	-	-	SALL3	NM_171999,p.K747T|uc010dra.3,p.K354T|ENST00000536229,p.K614T|uc002lmt.3,p.K747T|ENST00000575389,p.K747T|ENST00000537592,p.K747T	protein_coding, processed_transcript	uc010dra.3	nonsynonymous SNV	exon1	c.A1061C	p.K354T	LRVQHSCPICQKKFTNAVVLQQHIR	LRVQHSCPICQKTFTNAVVLQQHIR	1.0	1.0	unscreened	-	4317_18:76754231-76754231 A>C_LRVQHSCPICQKTFTNAVVLQQHIR
4:114277816-114277816 T>-	0.0	4317	RECTAL	-	-	-	-	ANK2	ENST00000357077,p.L2681fs|uc003ibe.4,p.L2681fs|uc011cgb.1,p.L2696fs|ENST00000264366,p.L2648fs|NM_001148,p.L2681fs	retained_intron, protein_coding, processed_transcript	uc011cgb.1	frameshift deletion	exon39	c.8087delT	p.L2696fs	ELAQLKKGADSGLLPEPVIRVQPPS	ELAQLKKGADSGLYQNQ	6.0	7.0	-	-	4317_4:114277816-114277816 T>-_ELAQLKKGADSGLYQNQ
1:45484505-45484505 A>G	0.0	4317	RECTAL	-	-	-	-	ZSWIM5	NM_020883,p.L1060P|uc001cnd.2,p.L1060P|ENST00000359600,p.L1060P	protein_coding, processed_transcript	uc001cnd.2	nonsynonymous SNV	exon14	c.T3179C	p.L1060P	LSHSLGKNELAALIPLVVKSVHCAT	LSHSLGKNELAAPIPLVVKSVHCAT	5.0	1.0	unscreened	-	4317_1:45484505-45484505 A>G_LSHSLGKNELAAPIPLVVKSVHCAT
1:205890969-205890969 A>T	0.0	4317	RECTAL	-	-	-	-	SLC26A9	ENST00000340781,p.S594T|NM_052934,p.S594T|uc001hdq.3,p.S594T|ENST00000367134,p.S594T|NM_134325,p.S594T|uc001hdp.3,p.S594T|uc001hdo.3,p.S262T|ENST00000367135,p.S594T	retained_intron, protein_coding	uc001hdq.3	nonsynonymous SNV	exon17	c.T1780A	p.S594T	QRRSLFMKTKTVSLQELQQDFENAP	QRRSLFMKTKTVTLQELQQDFENAP	4.0	3.0	unscreened	-	4317_1:205890969-205890969 A>T_QRRSLFMKTKTVTLQELQQDFENAP
14:51446061-51446061 G>T	0.0	4317	RECTAL	-	-	-	-	TRIM9	uc001wyy.2,p.P786Q|ENST00000338969,p.P786Q	retained_intron, protein_coding, processed_transcript	uc001wyy.2	nonsynonymous SNV	exon12	c.C2357A	p.P786Q	TLPLRLNSCCWLPVQRLPRAVQSNR	TLPLRLNSCCWLQVQRLPRAVQSNR	2.0	8.0	unscreened	-	4317_14:51446061-51446061 G>T_TLPLRLNSCCWLQVQRLPRAVQSNR
9:4118300-4118300 T>A	0.0	4317	RECTAL	-	-	-	-	GLIS3	uc003zhx.1,p.E393V|uc003zif.1,p.E171V|uc010mhi.1,p.E200V|uc003zhy.1,p.E171V|uc010mhg.1,p.E171V|uc003zhw.1,p.E238V|uc003zie.1,p.E393V|uc003zhz.1,p.E171V|uc003zig.1,p.E237V|NM_001042413,p.E393V|uc010mhh.1,p.E268V|uc003zib.1,p.E237V|ENST00000381971,p.E393V|NM_152629,p.E238V|ENST00000324333,p.E238V|uc003zic.1,p.E393V|uc003zid.1,p.E171V|uc003zih.1,p.E171V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010mhi.1	nonsynonymous SNV	exon2	c.A599T	p.E200V	LPAYGEDGALEHERMQQLEHGGLQP	LPAYGEDGALEHVRMQQLEHGGLQP	7.0	1.0	-	-	4317_9:4118300-4118300 T>A_LPAYGEDGALEHVRMQQLEHGGLQP
17:67031481-67031481 A>C	0.0	4317	RECTAL	-	-	-	-	ABCA9	NM_080283,p.L345R|uc010dez.3,p.L345R|ENST00000453985,p.L345R|ENST00000370732,p.L345R|ENST00000340001,p.L345R|uc002jhu.3,p.L345R	retained_intron, protein_coding, processed_transcript	uc010dez.3	nonsynonymous SNV	exon7	c.T1034G	p.L345R	LVVFLLIVFWGILGFPALYTRLPAF	LVVFLLIVFWGIRGFPALYTRLPAF	4.0	9.0	unscreened	-	4317_17:67031481-67031481 A>C_LVVFLLIVFWGIRGFPALYTRLPAF
6:49583374-49583374 T>A	0.0	4317	RECTAL	-	-	-	-	RHAG	ENST00000229810,p.E201D|uc003ozk.4,p.E201D|uc010jzl.3,p.E201D|uc010jzm.3,p.E201D|NM_000324,p.E201D|ENST00000371175,p.E201D	protein_coding	uc010jzm.3	nonsynonymous SNV	exon4	c.A603T	p.E201D	LYRSGLRKGHENEESAYYSDLFAMI	LYRSGLRKGHENDESAYYSDLFAMI	1.0	4.0	unscreened	-	4317_6:49583374-49583374 T>A_LYRSGLRKGHENDESAYYSDLFAMI
3:97595242-97595242 G>T	0.0	4317	RECTAL	-	-	-	-	CRYBG3	uc021xbn.2,p.R1735M|NM_153605,p.R1735M	protein_coding, processed_transcript	uc021xbn.2	nonsynonymous SNV	exon4	c.G5204T	p.R1735M	EGDIGKAEVMPVRLEMENTYPKDTE	EGDIGKAEVMPVMLEMENTYPKDTE	4.0	1.0	unscreened	-	4317_3:97595242-97595242 G>T_EGDIGKAEVMPVMLEMENTYPKDTE
10:125516734-125516734 C>G	0.0	4317	RECTAL	-	-	-	-	CPXM2	NM_198148,p.E638Q|uc001lhk.1,p.E638Q|ENST00000241305,p.E638Q	protein_coding, processed_transcript	uc001lhk.1	nonsynonymous SNV	exon12	c.G1912C	p.E638Q	WENNRESLIVFMEQVHRGIKGLVRD	WENNRESLIVFMQQVHRGIKGLVRD	3.0	2.0	unscreened	-	4317_10:125516734-125516734 C>G_WENNRESLIVFMQQVHRGIKGLVRD
10:105659949-105659949 T>A	0.0	4317	RECTAL	-	-	-	-	OBFC1	ENST00000369764,p.T110S|uc001kxm.3,p.T110S|uc001kxl.3,p.T110S|NM_024928,p.T110S|ENST00000224950,p.T110S	protein_coding, processed_transcript	uc001kxm.3	nonsynonymous SNV	exon5	c.A328T	p.T110S	SAAPSAARELSLTSQLKKLQETIEQ	SAAPSAARELSLSSQLKKLQETIEQ	6.0	5.0	-	-	4317_10:105659949-105659949 T>A_SAAPSAARELSLSSQLKKLQETIEQ
X:106843663-106843663 C>A	0.0	4317	RECTAL	-	-	-	-	FRMPD3	ENST00000439554,p.F779L|ENST00000276185,p.F831L|NM_032428,p.F831L	protein_coding, processed_transcript	NM_032428	nonsynonymous SNV	exon16	c.C2493A	p.F831L	MSAMKQHQNTTYFLAQHLNKDSLLA	MSAMKQHQNTTYLLAQHLNKDSLLA	1.0	10.0	unscreened	-	4317_X:106843663-106843663 C>A_MSAMKQHQNTTYLLAQHLNKDSLLA
5:179296801-179296801 A>G	0.0	4317	RECTAL	-	-	-	-	TBC1D9B	uc011dgw.1,p.L96P|ENST00000519746,p.L96P|uc003mli.3,p.L920P|uc003mlj.3,p.L920P|uc003mlg.3,p.L96P|uc003mlh.3,p.L920P|ENST00000356834,p.L920P|uc011dgv.2,p.L96P|NM_015043,p.L920P|ENST00000444477,p.L78P|NM_198868,p.L920P|ENST00000355235,p.L920P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dgw.1	nonsynonymous SNV	exon3	c.T287C	p.L96P	MSGMYHGDLTEKLKVLYKLHLPPAL	MSGMYHGDLTEKPKVLYKLHLPPAL	10.0	4.0	-	-	4317_5:179296801-179296801 A>G_MSGMYHGDLTEKPKVLYKLHLPPAL
12:113901342-113901342 C>T	0.0	4317	RECTAL	-	-	-	-	LHX5	uc001tvj.1,p.A288T|ENST00000261731,p.A288T|NM_022363,p.A288T	protein_coding, processed_transcript	uc001tvj.1	nonsynonymous SNV	exon5	c.G862A	p.A288T	YTYYGDYQGDYYAPGSNYDFFAHGP	YTYYGDYQGDYYTPGSNYDFFAHGP	1.0	7.0	unscreened	-	4317_12:113901342-113901342 C>T_YTYYGDYQGDYYTPGSNYDFFAHGP
X:46434436-46434436 T>G	0.0	4317	RECTAL	-	-	-	-	CHST7	ENST00000276055,p.L357R|NM_019886,p.L357R|uc022bvm.1,p.L357R|uc004dgt.3,p.L357R	protein_coding	uc022bvm.1	nonsynonymous SNV	exon1	c.T1070G	p.L357R	LEVICEAWLRDLLFARGAPAWLRRR	LEVICEAWLRDLRFARGAPAWLRRR	3.0	2.0	unscreened	-	4317_X:46434436-46434436 T>G_LEVICEAWLRDLRFARGAPAWLRRR
12:118465775-118465775 A>C	0.0	4317	RECTAL	-	-	-	-	RFC5	NM_001206801,p.T268P|uc009zwr.3,p.T268P	retained_intron, protein_coding, processed_transcript	uc009zwr.3	nonsynonymous SNV	exon9	c.A802C	p.T268P	NQDFTTAYRKLKTLKGLALHDILTE	NQDFTTAYRKLKPLKGLALHDILTE	7.0	1.0	-	-	4317_12:118465775-118465775 A>C_NQDFTTAYRKLKPLKGLALHDILTE
7:64388494-64388494 A>G	1.0	4317	RECTAL	-	-	-	-	ZNF273	NM_021148,p.K263R|uc003ttl.3,p.K198R|uc003tto.3,p.K263R|ENST00000319636,p.K198R|ENST00000476120,p.K263R|uc003ttn.3,p.K198R	protein_coding, processed_transcript, nonsense_mediated_decay	uc003tto.3	nonsynonymous SNV	exon4	c.A788G	p.K263R	KHKIIHPEVNPYKCEECGKAFNQSL	KHKIIHPEVNPYRCEECGKAFNQSL	10.0	5.0	-	-	4317_7:64388494-64388494 A>G_KHKIIHPEVNPYRCEECGKAFNQSL
4:164272590-164272590 G>A	0.0	4317	RECTAL	-	-	-	-	NPY5R	ENST00000338566,p.V389M|NM_006174,p.V389M|uc003iqn.3,p.V389M|ENST00000515560,p.V389M|uc021xtw.1,p.V389M|ENST00000506953,p.V389M	protein_coding	uc021xtw.1	nonsynonymous SNV	exon1	c.G1165A	p.V389M	FAVSWMPLHLFHVVTDFNDNLISNR	FAVSWMPLHLFHMVTDFNDNLISNR	1.0	7.0	unscreened	-	4317_4:164272590-164272590 G>A_FAVSWMPLHLFHMVTDFNDNLISNR
1:115280677-115280677 T>G	1.0	4317	RECTAL	-	-	-	-	CSDE1	ENST00000369530,p.E118D|ENST00000339438,p.E72D|NM_001242891,p.E118D|uc001efm.3,p.E118D|uc001efk.3,p.E72D|uc001efl.3,p.E72D|ENST00000438362,p.E118D|uc001efn.3,p.E72D|NM_001242893,p.E72D|uc001efi.3,p.E118D|NM_001242892,p.E72D|ENST00000358528,p.E72D|ENST00000534699,p.E72D|ENST00000534389,p.E72D|NM_001007553,p.E72D|ENST00000261443,p.E72D|uc009wgv.3,p.E72D|NM_007158,p.E72D|NM_001130523,p.E118D	retained_intron, protein_coding, processed_transcript	uc009wgv.3	nonsynonymous SNV	exon3	c.A216C	p.E72D	LQDLKVGDDVEFEVSSDRRTGKPIA	LQDLKVGDDVEFDVSSDRRTGKPIA	10.0	1.0	-	-	4317_1:115280677-115280677 T>G_LQDLKVGDDVEFDVSSDRRTGKPIA
3:54958662-54958662 C>A	0.0	4317	RECTAL	-	-	-	-	LRTM1	ENST00000273286,p.E196D|uc003dhl.3,p.E196D|ENST00000493075,p.E120D|NM_020678,p.E196D	protein_coding	uc003dhl.3	nonsynonymous SNV	exon2	c.G588T	p.E196D	CNCHLLGLKLWLEKFVYKGGLTDGI	CNCHLLGLKLWLDKFVYKGGLTDGI	1.0	7.0	unscreened	-	4317_3:54958662-54958662 C>A_CNCHLLGLKLWLDKFVYKGGLTDGI
20:20150026-20150026 A>G	0.0	4317	RECTAL	-	-	-	-	CFAP61	uc010zse.2,p.N416S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zse.2	nonsynonymous SNV	exon13	c.A1247G	p.N416S	LDFMNFVFSLFSNFVKMVPFNTCTL	LDFMNFVFSLFSSFVKMVPFNTCTL	4.0	9.0	unscreened	-	4317_20:20150026-20150026 A>G_LDFMNFVFSLFSSFVKMVPFNTCTL
16:846788-846788 T>C	1.0	4317	RECTAL	-	-	-	-	CHTF18	ENST00000262315,p.L843P|uc002cke.4,p.L843P|ENST00000317063,p.L1052P|ENST00000455171,p.L871P|uc002ckg.4,p.L361P|NM_022092,p.L843P|uc010brf.3,p.L425P|uc002ckf.4,p.L871P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010brf.3	nonsynonymous SNV	exon16	c.T1274C	p.L425P	PARKPLTYQTKQLIAREIEVEKMRR	PARKPLTYQTKQPIAREIEVEKMRR	8.0	1.0	-	-	4317_16:846788-846788 T>C_PARKPLTYQTKQPIAREIEVEKMRR
18:694321-694321 T>C	1.0	4317	RECTAL	-	-	-	-	ENOSF1	ENST00000583771,p.K6R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000583771	nonsynonymous SNV	exon2	c.A17G	p.K6R	MIGPEKGVVHLATAAVLN	MIGPERGVVHLATAAVLN	10.0	5.0	unscreened	-	4317_18:694321-694321 T>C_MIGPERGVVHLATAAVLN
22:38083977-38083977 G>T	1.0	4317	RECTAL	-	-	-	-	NOL12	NM_024313,p.E48D|uc011anm.1,p.E48D|ENST00000438329,p.E48D|ENST00000359114,p.E48D|uc003atp.3,p.E48D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011anm.1	nonsynonymous SNV	exon2	c.G144T	p.E48D	KRKVERKKAAIEEIKQRLKEEQRKL	KRKVERKKAAIEDIKQRLKEEQRKL	9.0	9.0	-	-	4317_22:38083977-38083977 G>T_KRKVERKKAAIEDIKQRLKEEQRKL
18:694320-694320 C>A	1.0	4317	RECTAL	-	-	-	-	ENOSF1	ENST00000583771,p.K6N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000583771	nonsynonymous SNV	exon2	c.G18T	p.K6N	MIGPEKGVVHLATAAVLN	MIGPENGVVHLATAAVLN	10.0	5.0	unscreened	-	4317_18:694320-694320 C>A_MIGPENGVVHLATAAVLN
10:103588836-103588836 T>G	0.0	4317	RECTAL	-	-	-	-	KCNIP2	uc001kuf.3,p.K65T|uc001kub.3,p.K115T|ENST00000239117,p.K65T|ENST00000358038,p.K97T|uc009xwv.3,p.K65T|NM_173191,p.K115T|ENST00000356640,p.K115T|NM_173194,p.K70T|NM_173197,p.K65T|uc009xwu.3,p.K65T|uc001ktz.3,p.K70T|uc010qqh.2,p.K70T|NM_173192,p.K97T|ENST00000370046,p.K65T|uc001kuc.3,p.K130T|NM_014591,p.K130T|uc010qqi.2,p.K65T|uc001kue.3,p.K97T|ENST00000461105,p.K130T|NM_173195,p.K65T|ENST00000348850,p.K70T|ENST00000343195,p.K65T	protein_coding, processed_transcript	uc010qqi.2	nonsynonymous SNV	exon2	c.A194C	p.K65T	TRKELQVLYRGFKNECPSGIVNEEN	TRKELQVLYRGFTNECPSGIVNEEN	6.0	5.0	unscreened	-	4317_10:103588836-103588836 T>G_TRKELQVLYRGFTNECPSGIVNEEN
5:1210582-1210582 T>C	0.0	4317	RECTAL	-	-	-	-	SLC6A19	NM_001003841,p.F123L|ENST00000304460,p.F123L|uc003jbw.4,p.F123L	protein_coding, nonsense_mediated_decay	uc003jbw.4	nonsynonymous SNV	exon3	c.T367C	p.F123L	LKGLGLASMLTSFMVGLYYNTIISW	LKGLGLASMLTSLMVGLYYNTIISW	4.0	9.0	unscreened	-	4317_5:1210582-1210582 T>C_LKGLGLASMLTSLMVGLYYNTIISW
12:78583914-78583914 T>G	0.0	4317	RECTAL	-	-	-	-	NAV3	NM_001024383,p.L2069R|ENST00000536525,p.L2047R|ENST00000550788,p.L669R|NM_014903,p.L2047R|uc001syo.3,p.L2047R|ENST00000397909,p.L2069R|uc001syp.3,p.L2069R|ENST00000228327,p.L2047R|ENST00000266692,p.L1870R|uc009zsf.3,p.L878R|uc010sub.2,p.L1526R	retained_intron, protein_coding, processed_transcript	uc010sub.2	nonsynonymous SNV	exon23	c.T4577G	p.L1526R	PSGTGKTYLANKLAEYVITKSGRKK	PSGTGKTYLANKRAEYVITKSGRKK	3.0	5.0	unscreened	-	4317_12:78583914-78583914 T>G_PSGTGKTYLANKRAEYVITKSGRKK
17:72211808-72211808 G>A	0.0	4317	RECTAL	-	-	-	-	TTYH2	uc010wqw.2,p.R8Q|ENST00000529107,p.R8Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wqw.2	nonsynonymous SNV	exon1	c.G23A	p.R8Q	MSVVGQDRKSGSGCYLRWLL	MSVVGQDQKSGSGCYLRWLL	6.0	10.0	-	-	4317_17:72211808-72211808 G>A_MSVVGQDQKSGSGCYLRWLL
7:81381558-81381558 C>T	0.0	4317	RECTAL	-	-	-	-	HGF	NM_001010933,p.R163Q|ENST00000457544,p.R163Q|uc003uhm.3,p.R163Q|uc003uho.1,p.R163Q|NM_001010932,p.R163Q|ENST00000453411,p.R163Q	retained_intron, protein_coding	uc003uho.1	nonsynonymous SNV	exon5	c.G488A	p.R163Q	PWSSMIPHEHSYRGKDLQENYCRNP	PWSSMIPHEHSYQGKDLQENYCRNP	5.0	2.0	unscreened	-	4317_7:81381558-81381558 C>T_PWSSMIPHEHSYQGKDLQENYCRNP
11:128805584-128805584 G>T	0.0	4317	RECTAL	-	-	-	-	TP53AIP1	uc001qey.3,p.P93T|NM_022112,p.P93T|ENST00000531399,p.P93T	retained_intron, protein_coding, nonsense_mediated_decay	uc001qey.3	nonsynonymous SNV	exon4	c.C277A	p.P93T	WILTGLGLGLSRPFLPGATVLRDRP	WILTGLGLGLSRTFLPGATVLRDRP	1.0	6.0	unscreened	-	4317_11:128805584-128805584 G>T_WILTGLGLGLSRTFLPGATVLRDRP
2:23980951-23980983 TTGATTTTCTCCGAACCCGAACTGTTTTACAAG>-	0.0	4317	RECTAL	-	-	-	-	ATAD2B	uc002rej.4,p.300_307del|uc002rei.4,p.1127_1134del|ENST00000238789,p.1132_1139del|uc002rek.4,p.1132_1139del|NM_001242338,p.1127_1134del|NM_017552,p.1132_1139del	retained_intron, protein_coding, processed_transcript	uc002rek.4	nonframeshift deletion	exon25	c.3395_3415del	p.1132_1139del	MDVWHNSANKCAFRVRRKSRRRSQW	MDVWHNSANKCAWRRSQWGKGIIKK	8.0	8.0	-	-	4317_2:23980951-23980983 TTGATTTTCTCCGAACCCGAACTGTTTTACAAG>-_MDVWHNSANKCAWRRSQWGKGIIKK
7:83119588-83119588 G>A	0.0	4317	RECTAL	-	-	-	-	SEMA3E	uc003uhy.2,p.L40F|ENST00000307792,p.L40F|NM_012431,p.L40F	protein_coding, nonsense_mediated_decay	uc003uhy.2	nonsynonymous SNV	exon2	c.C118T	p.L40F	TTHPRLRLSHKELLNLNRTSIFHSP	TTHPRLRLSHKEFLNLNRTSIFHSP	3.0	5.0	unscreened	-	4317_7:83119588-83119588 G>A_TTHPRLRLSHKEFLNLNRTSIFHSP
7:81381558-81381558 C>T	0.0	4317	RECTAL	-	-	-	-	HGF	NM_001010931,p.R168Q|uc003uhn.1,p.R168Q|ENST00000444829,p.R168Q|ENST00000423064,p.R168Q|ENST00000222390,p.R168Q|NM_000601,p.R168Q|NM_001010934,p.R168Q|uc003uhp.3,p.R168Q|uc003uhl.3,p.R168Q	retained_intron, protein_coding	uc003uhp.3	nonsynonymous SNV	exon5	c.G503A	p.R168Q	IPHEHSFLPSSYRGKDLQENYCRNP	IPHEHSFLPSSYQGKDLQENYCRNP	5.0	2.0	unscreened	-	4317_7:81381558-81381558 C>T_IPHEHSFLPSSYQGKDLQENYCRNP
8:11412863-11412863 G>C	0.0	4317	RECTAL	-	-	-	-	BLK	NM_001715,p.Q214H|uc003wty.3,p.Q214H|ENST00000259089,p.Q214H|ENST00000529894,p.Q143H	retained_intron, protein_coding, processed_transcript	uc003wty.3	nonsynonymous SNV	exon8	c.G642C	p.Q214H	VQHYSKKGDGLCQRLTLPCVRPAPQ	VQHYSKKGDGLCHRLTLPCVRPAPQ	4.0	1.0	unscreened	-	4317_8:11412863-11412863 G>C_VQHYSKKGDGLCHRLTLPCVRPAPQ
2:240982243-240982243 G>A	0.0	4317	RECTAL	-	rs80033040	-	-	PRR21	NM_001080835,p.R53W|ENST00000408934,p.R53W|uc010zod.2,p.R53W|ENST00000486799,p.R53W	protein_coding	uc010zod.2	nonsynonymous SNV	exon1	c.C157T	p.R53W	FIHGSSPMALHPRLFTHGPSSTALH	FIHGSSPMALHPWLFTHGPSSTALH	1.0	10.0	unscreened	-	4317_2:240982243-240982243 G>A_FIHGSSPMALHPWLFTHGPSSTALH
2:224462649-224462649 G>A	0.0	4317	RECTAL	-	-	ID=COSM3426136;OCCURENCE=1(large_intestine)	-	SCG2	NM_003469,p.S451L|uc002vnm.3,p.S451L|ENST00000305409,p.S451L|uc021vxk.1,p.S451L	protein_coding	uc021vxk.1	nonsynonymous SNV	exon1	c.C1352T	p.S451L	LLGMESAANQKTSYFPNPYNQEKVL	LLGMESAANQKTLYFPNPYNQEKVL	2.0	8.0	unscreened	-	4317_2:224462649-224462649 G>A_LLGMESAANQKTLYFPNPYNQEKVL
3:52246364-52246364 C>T	1.0	4317	RECTAL	-	-	-	-	ALAS1	ENST00000394965,p.P564S|ENST00000469224,p.P564S|ENST00000310271,p.P564S|NM_199166,p.P564S|uc011bec.2,p.P581S|uc003dcy.2,p.P564S|NM_000688,p.P564S|ENST00000484952,p.P564S|uc003dcz.2,p.P564S	protein_coding	uc011bec.2	nonsynonymous SNV	exon11	c.C1741T	p.P581S	NIYVQAINYPTVPRGEELLRIAPTP	NIYVQAINYPTVSRGEELLRIAPTP	8.0	9.0	-	-	4317_3:52246364-52246364 C>T_NIYVQAINYPTVSRGEELLRIAPTP
5:7757577-7757577 G>T	0.0	4317	RECTAL	-	-	-	-	ADCY2	uc011cmo.1,p.A478S|ENST00000537121,p.A478S|ENST00000338316,p.A658S|NM_020546,p.A658S|uc003jdz.1,p.A658S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cmo.1	nonsynonymous SNV	exon13	c.G1432T	p.A478S	CFAGQLLQCSKKASPLLMWLLKSSG	CFAGQLLQCSKKSSPLLMWLLKSSG	3.0	9.0	unscreened	-	4317_5:7757577-7757577 G>T_CFAGQLLQCSKKSSPLLMWLLKSSG
6:38980042-38980042 C>A	0.0	4317	RECTAL	-	-	ID=COSM1078929,COSM1078930;OCCURENCE=1(endometrium)	-	DNAH8	uc021yzh.1,p.L4475I|uc003ooe.2,p.L4258I|ENST00000441566,p.L4222I|ENST00000359357,p.L4258I|ENST00000327475,p.L4463I|NM_001206927,p.L4475I	protein_coding	uc021yzh.1	nonsynonymous SNV	exon90	c.C13423A	p.L4475I	IKMGHLNSMNIFLRQEIDRMQRVIS	IKMGHLNSMNIFIRQEIDRMQRVIS	1.0	8.0	unscreened	-	4317_6:38980042-38980042 C>A_IKMGHLNSMNIFIRQEIDRMQRVIS
15:86810237-86810237 G>A	0.0	4317	RECTAL	-	-	-	-	AGBL1	ENST00000421325,p.A544T|ENST00000389298,p.A275T|uc002bma.1,p.A275T|NM_152336,p.A544T|ENST00000441037,p.A544T|uc002bmb.1,p.A238T|uc002blz.1,p.A544T	retained_intron, protein_coding	uc002bmb.1	nonsynonymous SNV	exon4	c.G712A	p.A238T	FSLDEPWPLQDNASNCLRFFSKFES	FSLDEPWPLQDNTSNCLRFFSKFES	4.0	6.0	unscreened	-	4317_15:86810237-86810237 G>A_FSLDEPWPLQDNTSNCLRFFSKFES
1:203767689-203767689 T>G	0.0	4317	RECTAL	-	-	-	-	ZBED6	ENST00000550078,p.L347V|uc021phs.1,p.L347V|NM_001174108,p.L347V	protein_coding	uc021phs.1	nonsynonymous SNV	exon1	c.T1039G	p.L347V	AETERSDLLSDTLHGEKSTGSQDLT	AETERSDLLSDTVHGEKSTGSQDLT	7.0	5.0	unscreened	-	4317_1:203767689-203767689 T>G_AETERSDLLSDTVHGEKSTGSQDLT
17:79769168-79769168 C>T	0.0	4317	RECTAL	-	-	-	-	GCGR	NM_000160,p.A155V|ENST00000400723,p.A155V|uc010wux.2,p.A155V|ENST00000570996,p.A155V|uc010wuw.2,p.A155V	retained_intron, protein_coding	uc010wux.2	nonsynonymous SNV	exon6	c.C464T	p.A155V	VMYTVGYSLSLGALLLALAILGGLS	VMYTVGYSLSLGVLLLALAILGGLS	3.0	1.0	unscreened	-	4317_17:79769168-79769168 C>T_VMYTVGYSLSLGVLLLALAILGGLS
6:117859897-117859897 T>G	1.0	4317	RECTAL	-	-	-	-	DCBLD1	uc003pxs.3,p.L292R|uc003pxr.1,p.L292R|ENST00000338728,p.L292R|NM_173674,p.L292R|ENST00000296955,p.L292R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pxs.3	nonsynonymous SNV	exon8	c.T875G	p.L292R	GDQVHWSPGQARLQDQGPSWASGDS	GDQVHWSPGQARRQDQGPSWASGDS	7.0	3.0	-	-	4317_6:117859897-117859897 T>G_GDQVHWSPGQARRQDQGPSWASGDS
2:206592669-206592669 T>C	0.0	4317	RECTAL	-	-	-	-	NRP2	ENST00000412873,p.S349P|ENST00000540841,p.S349P|uc002vav.3,p.S349P|ENST00000360409,p.S349P|NM_003872,p.S349P|ENST00000540178,p.S349P|NM_018534,p.S349P|uc010fud.3,p.S349P|ENST00000357785,p.S349P|uc002vay.3,p.S349P|uc002vax.3,p.S349P|NM_201266,p.S349P|ENST00000272849,p.S349P|NM_201279,p.S349P|ENST00000357118,p.S349P|NM_201264,p.S349P|ENST00000417189,p.S349P|NM_201267,p.S349P|uc002vau.3,p.S349P|uc002vaw.3,p.S349P|ENST00000355117,p.S349P|uc002vat.3,p.S349P	retained_intron, protein_coding, processed_transcript	uc010fud.3	nonsynonymous SNV	exon8	c.T1045C	p.S349P	TMLTAIATQGAISRETQNGYYVKSY	TMLTAIATQGAIPRETQNGYYVKSY	7.0	7.0	-	-	4317_2:206592669-206592669 T>C_TMLTAIATQGAIPRETQNGYYVKSY
19:10571762-10571762 A>T	0.0	4317	RECTAL	-	-	-	-	PDE4A	ENST00000592685,p.Q461L|uc002mom.2,p.Q244L|uc002moj.2,p.Q483L|ENST00000352831,p.Q483L|NM_001243121,p.Q461L|NM_001111307,p.Q483L|ENST00000380702,p.Q461L|ENST00000293683,p.Q457L|uc002mol.2,p.Q422L|uc021uow.1,p.Q461L|ENST00000440014,p.Q422L|NM_001111309,p.Q422L|ENST00000344979,p.Q244L|NM_006202,p.Q244L|uc002moo.2,p.Q149L|ENST00000591971,p.Q204L|uc002mok.2,p.Q457L|NM_001111308,p.Q457L	retained_intron, protein_coding, nonsense_mediated_decay	uc021uow.1	nonsynonymous SNV	exon13	c.A1382T	p.Q461L	AIHDVDHPGVSNQFLINTNSELALM	AIHDVDHPGVSNLFLINTNSELALM	8.0	3.0	-	-	4317_19:10571762-10571762 A>T_AIHDVDHPGVSNLFLINTNSELALM
4:54325572-54325572 C>A	0.0	4317	RECTAL	-	-	-	1	FIP1L1	uc003hae.3,p.S168R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003hae.3	nonsynonymous SNV	exon7	c.C504A	p.S168R	LKEAKKEKKRAVSLPLNRRAPKLHL	LKEAKKEKKRAVRLPLNRRAPKLHL	10.0	2.0	-	-	4317_4:54325572-54325572 C>A_LKEAKKEKKRAVRLPLNRRAPKLHL
17:27286800-27286800 A>T	0.0	4317	RECTAL	-	-	-	-	SEZ6	uc002hdq.1,p.Y438N|ENST00000360295,p.Y563N|NM_178860,p.Y563N|ENST00000317338,p.Y563N|NM_001290202,p.Y438N|uc002hdp.2,p.Y563N|uc010cry.1,p.Y563N|ENST00000540632,p.Y489N|ENST00000442608,p.Y563N|NM_001098635,p.Y563N	retained_intron, protein_coding, nonsense_mediated_decay	uc010cry.1	nonsynonymous SNV	exon8	c.T1687A	p.Y563N	VGTTVEFSCDPGYTLEQGSIIIECV	VGTTVEFSCDPGNTLEQGSIIIECV	1.0	6.0	unscreened	-	4317_17:27286800-27286800 A>T_VGTTVEFSCDPGNTLEQGSIIIECV
2:175436937-175436937 T>A	1.0	4317	RECTAL	-	-	-	-	WIPF1	uc002uiz.3,p.H199L|uc002ujb.2,p.H199L|ENST00000392546,p.H199L|ENST00000359761,p.H199L|NM_001077269,p.H199L|uc010zep.1,p.H199L|uc010fqt.1,p.H199L|uc002ujc.1,p.H199L|ENST00000392547,p.H199L|uc002uja.3,p.H199L|ENST00000409891,p.H199L|ENST00000409415,p.H199L|NM_003387,p.H199L|ENST00000272746,p.H199L	retained_intron, protein_coding, processed_transcript	uc010zep.1	nonsynonymous SNV	exon5	c.A596T	p.H199L	VPSTPRPIQSSPHNRGSPPVPGGPR	VPSTPRPIQSSPLNRGSPPVPGGPR	6.0	2.0	unscreened	-	4317_2:175436937-175436937 T>A_VPSTPRPIQSSPLNRGSPPVPGGPR
19:9024879-9024879 T>C	0.0	4317	RECTAL	-	-	-	2	MUC16	NM_024690,p.D12328G|ENST00000397910,p.D12328G|uc002mkp.3,p.D12328G	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon16	c.A36983G	p.D12328G	EQLYWELSKLTNDIEELGPYTLDRN	EQLYWELSKLTNGIEELGPYTLDRN	4.0	3.0	unscreened	-	4317_19:9024879-9024879 T>C_EQLYWELSKLTNGIEELGPYTLDRN
6:7231826-7231826 C>G	0.0	4317	RECTAL	-	-	-	-	RREB1	NM_001003698,p.A1165G|uc003mxc.3,p.A1165G|ENST00000379938,p.A1165G|NM_001003700,p.A1165G|uc003mxb.3,p.A1165G|NM_001168344,p.A1165G|uc010jnx.3,p.A1165G|uc021yky.1,p.A1165G|NM_001003699,p.A1165G|ENST00000334984,p.A1165G|uc021ykz.1,p.A1165G|ENST00000379933,p.A1165G|ENST00000349384,p.A1165G	retained_intron, protein_coding, nonsense_mediated_decay	uc021ykz.1	nonsynonymous SNV	exon7	c.C3494G	p.A1165G	RGRKRGMRSRPRANSGGVDLDSSGE	RGRKRGMRSRPRGNSGGVDLDSSGE	9.0	1.0	-	-	4317_6:7231826-7231826 C>G_RGRKRGMRSRPRGNSGGVDLDSSGE
2:86260846-86260846 C>T	1.0	4317	RECTAL	-	-	-	-	POLR1A	uc010ytb.2,p.V733I|ENST00000263857,p.V1367I|uc002sqs.3,p.V1367I|NM_015425,p.V1367I|ENST00000409681,p.V1367I|uc002sqt.1,p.V390I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ytb.2	nonsynonymous SNV	exon15	c.G2197A	p.V733I	KKKNNKASAFRNVNTRRATQRDLDN	KKKNNKASAFRNINTRRATQRDLDN	8.0	8.0	-	-	4317_2:86260846-86260846 C>T_KKKNNKASAFRNINTRRATQRDLDN
22:31846339-31846339 A>G	0.0	4317	RECTAL	-	-	-	-	EIF4ENIF1	NM_019843,p.L507P|ENST00000330125,p.L507P|uc003akz.2,p.L507P|uc003ala.2,p.L507P|ENST00000418321,p.L105P|uc003aky.2,p.L186P|NM_001164501,p.L507P|ENST00000397525,p.L507P	retained_intron, protein_coding, nonsense_mediated_decay	uc003ala.2	nonsynonymous SNV	exon11	c.T1520C	p.L507P	GTLPSQPKVSRNLESHLMSPAEIPG	GTLPSQPKVSRNPESHLMSPAEIPG	8.0	3.0	-	-	4317_22:31846339-31846339 A>G_GTLPSQPKVSRNPESHLMSPAEIPG
2:168104518-168104518 C>A	0.0	4317	RECTAL	-	-	-	-	XIRP2	NM_152381,p.L2206I|uc002udy.3,p.L2031I|ENST00000409273,p.L1984I|NM_001199144,p.L1984I|ENST00000409195,p.L2206I|uc002udx.3,p.L2206I|ENST00000295237,p.L2206I|uc010fpq.3,p.L1984I	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.C5950A	p.L1984I	YSNKDIKKKNINLQPMWQLLPVEQD	YSNKDIKKKNINIQPMWQLLPVEQD	1.0	9.0	unscreened	-	4317_2:168104518-168104518 C>A_YSNKDIKKKNINIQPMWQLLPVEQD
19:36278760-36278760 C>G	0.0	4317	RECTAL	-	-	-	-	ARHGAP33	ENST00000007510,p.S1098C|uc002obv.1,p.S686C|uc002obt.2,p.S934C|ENST00000314737,p.S937C|uc002obs.2,p.S937C|NM_052948,p.S937C|ENST00000378944,p.S934C|NM_001172630,p.S934C	retained_intron, protein_coding, processed_transcript	uc002obv.1	nonsynonymous SNV	exon8	c.C2057G	p.S686C	YYEIGASEGSPYSGPTRSWSPFRSM	YYEIGASEGSPYCGPTRSWSPFRSM	9.0	8.0	-	-	4317_19:36278760-36278760 C>G_YYEIGASEGSPYCGPTRSWSPFRSM
1:237796936-237796936 G>A	0.0	4317	RECTAL	-	-	-	-	RYR2	ENST00000360064,p.R2203H|ENST00000542537,p.R2189H|uc001hyl.1,p.R2205H|ENST00000366574,p.R2205H|NM_001035,p.R2205H	protein_coding, processed_transcript	uc001hyl.1	nonsynonymous SNV	exon43	c.G6614A	p.R2205H	VANCCRFLCYFCRISRQNQKAMFDH	VANCCRFLCYFCHISRQNQKAMFDH	4.0	7.0	unscreened	-	4317_1:237796936-237796936 G>A_VANCCRFLCYFCHISRQNQKAMFDH
14:77808263-77808263 T>G	1.0	4317	RECTAL	-	-	-	-	TMED8	ENST00000216468,p.M277L|uc001xtn.1,p.M121L|NM_213601,p.M277L|uc001xto.1,p.M277L	protein_coding	uc001xto.1	nonsynonymous SNV	exon6	c.A829C	p.M277L	SRSSLRGRYGEVMPVYRRDSHRDVQ	SRSSLRGRYGEVLPVYRRDSHRDVQ	4.0	7.0	-	-	4317_14:77808263-77808263 T>G_SRSSLRGRYGEVLPVYRRDSHRDVQ
18:694320-694320 C>A	1.0	4317	RECTAL	-	-	-	-	ENOSF1	ENST00000251101,p.K108N|uc002kku.4,p.K108N|NM_017512,p.K108N|NM_202758,p.K129N|ENST00000539164,p.K108N|ENST00000340116,p.K129N|uc010dkf.3,p.K129N|ENST00000581475,p.K108N|ENST00000584453,p.K108N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dkf.3	nonsynonymous SNV	exon4	c.G387T	p.K129N	TSDGQLRWIGPEKGVVHLATAAVLN	TSDGQLRWIGPENGVVHLATAAVLN	10.0	5.0	unscreened	-	4317_18:694320-694320 C>A_TSDGQLRWIGPENGVVHLATAAVLN
21:32007692-32007692 G>T	0.0	4317	RECTAL	-	-	-	-	KRTAP20-2	ENST00000330798,p.C37F|uc011adg.2,p.C37F|NM_181616,p.C37F	protein_coding	uc011adg.2	nonsynonymous SNV	exon1	c.G110T	p.C37F	GCGYGHGYGGLGCGYGRGYGGYGYG	GCGYGHGYGGLGFGYGRGYGGYGYG	1.0	9.0	unscreened	-	4317_21:32007692-32007692 G>T_GCGYGHGYGGLGFGYGRGYGGYGYG
6:32303219-32303219 G>T	0.0	4317	RECTAL	-	-	-	-	C6orf10	uc021yvu.1,p.T140N|uc011dpx.2,p.T133N|ENST00000527965,p.T133N|ENST00000533191,p.T140N|ENST00000442822,p.T133N|NM_001286474,p.T140N|ENST00000375007,p.T154N|NM_001286475,p.T133N|uc011dpz.2,p.T140N|uc021yvv.1,p.T133N|ENST00000447241,p.T156N|ENST00000375015,p.T140N|uc021yvt.1,p.T156N|NM_006781,p.T156N	protein_coding	uc021yvv.1	nonsynonymous SNV	exon14	c.C398A	p.T133N	PGATGPIKLSQKTIVQTPGPIVQYP	PGATGPIKLSQKNIVQTPGPIVQYP	1.0	10.0	unscreened	-	4317_6:32303219-32303219 G>T_PGATGPIKLSQKNIVQTPGPIVQYP
21:39526607-39526607 A>G	0.0	4317	RECTAL	-	-	-	-	DSCR8	uc010gnp.4,p.E54G|uc010gnq.4,p.E60G|ENST00000400477,p.E54G|ENST00000357704,p.E60G	protein_coding, processed_transcript	uc010gnq.4	nonsynonymous SNV	exon3	c.A179G	p.E60G	LPVQEILMSQPPEQLGLQTNLGNQE	LPVQEILMSQPPGQLGLQTNLGNQE	1.0	10.0	unscreened	-	4317_21:39526607-39526607 A>G_LPVQEILMSQPPGQLGLQTNLGNQE
1:190423914-190423914 G>A	0.0	4317	RECTAL	-	-	-	-	BRINP3	NM_199051,p.S36L|ENST00000367462,p.S36L|ENST00000445957,p.S36L|uc001gse.1,p.S36L	protein_coding, processed_transcript	uc001gse.1	nonsynonymous SNV	exon2	c.C107T	p.S36L	SLHCWVLAVAAVSDQHATSPFDWLL	SLHCWVLAVAAVLDQHATSPFDWLL	1.0	7.0	unscreened	-	4317_1:190423914-190423914 G>A_SLHCWVLAVAAVLDQHATSPFDWLL
21:34945660-34945660 T>G	0.0	4317	RECTAL	-	-	-	-	SON	NM_001291412,p.V339G|uc002ysd.3,p.V1302G|ENST00000356577,p.V2311G|NM_138927,p.V2311G|uc002ysf.1,p.V339G|ENST00000381692,p.V339G|uc002yse.1,p.V2311G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ysf.1	nonsynonymous SNV	exon8	c.T1016G	p.V339G	LRAAPVTGGMGAVLMRKMGWREGEG	LRAAPVTGGMGAGLMRKMGWREGEG	10.0	4.0	-	-	4317_21:34945660-34945660 T>G_LRAAPVTGGMGAGLMRKMGWREGEG
10:134884634-134884634 G>A	0.0	4317	RECTAL	-	-	-	-	LINC01168,LOC100128127	uc001llw.3,p.V68I|ENST00000607359,p.V68I	protein_coding	uc001llw.3	nonsynonymous SNV	exon1	c.G202A	p.V68I	RWTYRPIEALINVSFPGAKGGRTAE	RWTYRPIEALINISFPGAKGGRTAE	1.0	8.0	unscreened	-	4317_10:134884634-134884634 G>A_RWTYRPIEALINISFPGAKGGRTAE
19:57985336-57985336 G>C	0.0	4317	RECTAL	-	-	-	-	ZNF772	ENST00000356584,p.S218C|ENST00000343280,p.S259C|uc010yha.2,p.S205C|uc010ygy.2,p.S218C|uc010ygz.2,p.S147C|NM_001144068,p.S218C|NM_001024596,p.S259C|uc002qot.3,p.S259C|ENST00000427512,p.S147C|uc002qou.3,p.S147C	protein_coding, nonsense_mediated_decay	uc010yha.2	nonsynonymous SNV	exon3	c.C614G	p.S205C	WKPHSNTKCEEASHCGKRHYKCSEC	WKPHSNTKCEEACHCGKRHYKCSEC	2.0	1.0	unscreened	-	4317_19:57985336-57985336 G>C_WKPHSNTKCEEACHCGKRHYKCSEC
22:31846339-31846339 A>G	0.0	4317	RECTAL	-	-	-	-	EIF4ENIF1	NM_001164502,p.L332P|uc003alb.2,p.L332P|ENST00000344710,p.L332P	retained_intron, protein_coding, nonsense_mediated_decay	uc003alb.2	nonsynonymous SNV	exon9	c.T995C	p.L332P	AFNKLVSTMKRNLESHLMSPAEIPG	AFNKLVSTMKRNPESHLMSPAEIPG	8.0	3.0	-	-	4317_22:31846339-31846339 A>G_AFNKLVSTMKRNPESHLMSPAEIPG
3:195511508-195511508 T>A	1.0	4317	RECTAL	-	-	-	2	MUC4	ENST00000466475,p.T2315S|NM_018406,p.T2315S|ENST00000475231,p.T2315S|ENST00000477086,p.T2315S|ENST00000463781,p.T2315S|ENST00000477756,p.T2315S|ENST00000470451,p.T2315S|ENST00000480843,p.T2315S|ENST00000479406,p.T2315S|uc021xjp.1,p.T2315S|ENST00000462323,p.T2315S|ENST00000478156,p.T2315S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.A6943T	p.T2315S	TPLHVTDASSASTGHATPLPVTSLS	TPLHVTDASSASSGHATPLPVTSLS	10.0	6.0	-	-	4317_3:195511508-195511508 T>A_TPLHVTDASSASSGHATPLPVTSLS
13:52329582-52329582 T>C	1.0	4317	RECTAL	-	-	-	-	WDFY2	uc001vfp.3,p.I307T|ENST00000298125,p.I307T|NM_052950,p.I307T	protein_coding, processed_transcript	uc001vfp.3	nonsynonymous SNV	exon9	c.T920C	p.I307T	FWNFKQMWDSKKIGLRQHHCRKCGK	FWNFKQMWDSKKTGLRQHHCRKCGK	6.0	10.0	-	-	4317_13:52329582-52329582 T>C_FWNFKQMWDSKKTGLRQHHCRKCGK
19:31768867-31768867 T>G	0.0	4317	RECTAL	-	-	-	-	TSHZ3	uc002nsy.4,p.E611A|ENST00000240587,p.E611A|NM_020856,p.E611A	protein_coding, processed_transcript	uc002nsy.4	nonsynonymous SNV	exon2	c.A1832C	p.E611A	TSPMPKTNFHAMEELVKKVTEKVAK	TSPMPKTNFHAMAELVKKVTEKVAK	3.0	4.0	unscreened	-	4317_19:31768867-31768867 T>G_TSPMPKTNFHAMAELVKKVTEKVAK
5:176675312-176675312 A>C	1.0	4317	RECTAL	-	-	-	1	NSD1	uc011dfx.2,p.E1191A|uc003mfr.4,p.E1543A|ENST00000347982,p.E1274A|ENST00000361032,p.E1440A|NM_022455,p.E1543A|uc003mfs.1,p.E1440A|uc003mft.4,p.E1274A|ENST00000354179,p.E1274A|ENST00000439151,p.E1543A|NM_172349,p.E1274A	retained_intron, protein_coding, nonsense_mediated_decay	uc011dfx.2	nonsynonymous SNV	exon12	c.A3572C	p.E1191A	MQGERGGGAALKENVCQNCEKLGEL	MQGERGGGAALKANVCQNCEKLGEL	9.0	3.0	-	-	4317_5:176675312-176675312 A>C_MQGERGGGAALKANVCQNCEKLGEL
1:62913143-62913143 C>A	1.0	4317	RECTAL	-	-	-	-	USP1	ENST00000371146,p.Q461K|uc001daj.2,p.Q461K|uc001dal.2,p.Q461K|NM_001017416,p.Q461K|NM_001017415,p.Q461K|NM_003368,p.Q461K|uc001dak.2,p.Q461K|ENST00000339950,p.Q461K	protein_coding	uc001dal.2	nonsynonymous SNV	exon7	c.C1381A	p.Q461K	RREDFQDISVPVQEDELSKVEESSE	RREDFQDISVPVKEDELSKVEESSE	6.0	10.0	-	-	4317_1:62913143-62913143 C>A_RREDFQDISVPVKEDELSKVEESSE
12:118465775-118465775 A>C	0.0	4317	RECTAL	-	-	-	-	RFC5	NM_181578,p.T250P|NM_007370,p.T271P|uc010syx.2,p.T250P|ENST00000392542,p.T250P|NM_001130112,p.T186P|ENST00000454402,p.T271P|uc001twq.3,p.T271P|uc010syz.2,p.T186P|ENST00000229043,p.T186P	retained_intron, protein_coding, processed_transcript	uc010syz.2	nonsynonymous SNV	exon10	c.A556C	p.T186P	FTTAYRNITELKTLKGLALHDILTE	FTTAYRNITELKPLKGLALHDILTE	7.0	1.0	-	-	4317_12:118465775-118465775 A>C_FTTAYRNITELKPLKGLALHDILTE
19:42585066-42585066 G>A	1.0	4317	RECTAL	-	-	ID=COSM1481127;OCCURENCE=1(breast)	-	ZNF574	NM_022752,p.D770N|uc002osk.4,p.D860N|ENST00000222339,p.D860N|ENST00000359044,p.D770N|ENST00000600245,p.D770N|uc021uva.1,p.D770N|uc002osm.4,p.D770N	protein_coding	uc021uva.1	nonsynonymous SNV	exon1	c.G2308A	p.D770N	RIHTGERPYPCPDCGKAFRQSTHLK	RIHTGERPYPCPNCGKAFRQSTHLK	6.0	8.0	-	-	4317_19:42585066-42585066 G>A_RIHTGERPYPCPNCGKAFRQSTHLK
10:1065733-1065735 GTG>-	1.0	4317	RECTAL	-	-	-	-	IDI2	ENST00000277517,p.136_136del|NM_033261,p.136_136del|uc001ifv.1,p.136_136del	protein_coding	uc001ifv.1	nonframeshift deletion	exon5	c.406_408del	p.136_136del	SPEDIVFMTIYHHKAKSDRIWGEHE	SPEDIVFMTIYHKAKSDRIWGEHEI	1.0	6.0	-	-	4317_10:1065733-1065735 GTG>-_SPEDIVFMTIYHKAKSDRIWGEHEI
X:73740894-73740894 G>A	0.0	4317	RECTAL	-	-	-	-	SLC16A2	ENST00000587091,p.R167H|ENST00000276033,p.R241H|uc031tjy.1,p.R167H|NM_006517,p.R167H	protein_coding	uc031tjy.1	nonsynonymous SNV	exon2	c.G500A	p.R167H	FFCSPIVSIFTDRLGCRITATAGAA	FFCSPIVSIFTDHLGCRITATAGAA	4.0	8.0	unscreened	-	4317_X:73740894-73740894 G>A_FFCSPIVSIFTDHLGCRITATAGAA
1:240601452-240601452 T>C	0.0	4317	RECTAL	-	-	-	-	FMN2	ENST00000319653,p.F1668L|NM_020066,p.F1668L|uc010pyg.2,p.F264L|ENST00000545751,p.F264L|uc010pyd.2,p.F1668L|uc010pye.2,p.F1672L	protein_coding, processed_transcript	uc010pyg.2	nonsynonymous SNV	exon9	c.T790C	p.F264L	VSPNAFFSIWHEFSSDFKDFWKKEN	VSPNAFFSIWHELSSDFKDFWKKEN	1.0	2.0	unscreened	-	4317_1:240601452-240601452 T>C_VSPNAFFSIWHELSSDFKDFWKKEN
10:49633964-49633964 T>G	0.0	4317	RECTAL	-	-	-	-	MAPK8	uc001jgq.3,p.L241R|NM_002750,p.L241R|uc001jgp.3,p.L241R|ENST00000374182,p.L241R|ENST00000360332,p.L241R|NM_139049,p.L241R|ENST00000374189,p.L241R	protein_coding, processed_transcript	uc001jgq.3	nonsynonymous SNV	exon7	c.T722G	p.L241R	DYIDQWNKVIEQLGTPCPEFMKKLQ	DYIDQWNKVIEQRGTPCPEFMKKLQ	7.0	4.0	-	-	4317_10:49633964-49633964 T>G_DYIDQWNKVIEQRGTPCPEFMKKLQ
10:49633964-49633964 T>G	0.0	4317	RECTAL	-	-	-	-	MAPK8	NM_001278547,p.L241R|ENST00000374176,p.L241R|uc010qgk.2,p.L241R|uc021ppy.1,p.L241R|uc001jgm.3,p.L241R|uc001jgn.3,p.L241R|NM_139046,p.L241R|ENST00000374179,p.L241R|uc001jgo.3,p.L241R	protein_coding, processed_transcript	uc021ppy.1	nonsynonymous SNV	exon7	c.T722G	p.L241R	DHIDQWNKVIEQLGTPCPEFMKKLQ	DHIDQWNKVIEQRGTPCPEFMKKLQ	7.0	4.0	-	-	4317_10:49633964-49633964 T>G_DHIDQWNKVIEQRGTPCPEFMKKLQ
1:152128109-152128109 T>G	0.0	4317	RECTAL	-	-	-	-	RPTN	ENST00000316073,p.K489T|NM_001122965,p.K489T|uc001ezs.1,p.K489T	protein_coding	uc001ezs.1	nonsynonymous SNV	exon3	c.A1466C	p.K489T	QPDKQGQSSHYGKIDRQDQSYHYGQ	QPDKQGQSSHYGTIDRQDQSYHYGQ	1.0	1.0	unscreened	-	4317_1:152128109-152128109 T>G_QPDKQGQSSHYGTIDRQDQSYHYGQ
12:94543406-94543406 T>A	1.0	4317	RECTAL	-	-	-	-	PLXNC1	uc001tdc.3,p.L220Q|NM_005761,p.L220Q|ENST00000258526,p.L220Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001tdc.3	nonsynonymous SNV	exon1	c.T659A	p.L220Q	KDTEGRSLATQELGRLKLCEGAGSL	KDTEGRSLATQEQGRLKLCEGAGSL	5.0	10.0	-	-	4317_12:94543406-94543406 T>A_KDTEGRSLATQEQGRLKLCEGAGSL
X:152686974-152686974 C>T	0.0	4317	RECTAL	-	-	-	-	ZFP92	NM_001136273,p.T380M|uc011myo.2,p.T380M|ENST00000338647,p.T380M	protein_coding	uc011myo.2	nonsynonymous SNV	exon4	c.C1139T	p.T380M	AVHGARRPAKAETARRLAGPGSTGP	AVHGARRPAKAEMARRLAGPGSTGP	5.0	10.0	unscreened	-	4317_X:152686974-152686974 C>T_AVHGARRPAKAEMARRLAGPGSTGP
1:42048797-42048797 G>C	0.0	4317	RECTAL	-	-	-	-	HIVEP3	ENST00000372583,p.R558G|ENST00000247584,p.R558G|ENST00000429157,p.R558G|NM_001127714,p.R558G|NM_024503,p.R558G|uc001cha.4,p.R558G|ENST00000372584,p.R558G|uc001cgz.4,p.R558G	protein_coding, processed_transcript	uc001cha.4	nonsynonymous SNV	exon3	c.C1672G	p.R558G	AACTISTPHHPFRGSYSFDDHITDS	AACTISTPHHPFGGSYSFDDHITDS	4.0	9.0	unscreened	-	4317_1:42048797-42048797 G>C_AACTISTPHHPFGGSYSFDDHITDS
15:22074672-22074672 G>T	0.0	4317	RECTAL	-	-	-	-	POTEB,POTEB2,POTEB3	NM_207355,p.H244N|uc031qra.1,p.H244N	protein_coding, processed_transcript, nonsense_mediated_decay	uc031qra.1	nonsynonymous SNV	exon4	c.C730A	p.H244N	GNIQDEYGNTALHYAIYNEDKLMAK	GNIQDEYGNTALNYAIYNEDKLMAK	1.0	7.0	unscreened	-	4317_15:22074672-22074672 G>T_GNIQDEYGNTALNYAIYNEDKLMAK
5:79368110-79368110 A>C	0.0	4317	RECTAL	-	-	-	-	THBS4	ENST00000350881,p.N577T|ENST00000511733,p.N486T|NM_003248,p.N577T|uc021yaw.1,p.N577T	protein_coding, processed_transcript	uc021yaw.1	nonsynonymous SNV	exon14	c.A1730C	p.N577T	ACDDDMDGDGIKNILDNCPKFPNRD	ACDDDMDGDGIKTILDNCPKFPNRD	4.0	1.0	unscreened	-	4317_5:79368110-79368110 A>C_ACDDDMDGDGIKTILDNCPKFPNRD
17:51900767-51900767 A>G	0.0	4317	RECTAL	-	-	-	-	KIF2B	NM_032559,p.T125A|ENST00000268919,p.T125A|uc002iua.2,p.T125A	protein_coding	uc002iua.2	nonsynonymous SNV	exon1	c.A373G	p.T125A	TKWVAMIPQKNQTASGDSLDVRVPS	TKWVAMIPQKNQAASGDSLDVRVPS	1.0	10.0	unscreened	-	4317_17:51900767-51900767 A>G_TKWVAMIPQKNQAASGDSLDVRVPS
2:201436583-201436583 C>G	0.0	4317	RECTAL	-	-	-	-	SGOL2	NM_001160046,p.S505C|uc002uvw.2,p.S505C|NM_001160033,p.S505C|uc010zhd.1,p.S505C|ENST00000357799,p.S505C|NM_152524,p.S505C|uc010zhe.1,p.S505C	retained_intron, protein_coding, processed_transcript	uc010zhe.1	nonsynonymous SNV	exon7	c.C1514G	p.S505C	EKRITNEQEETYSLSQSSGKFHQES	EKRITNEQEETYCLSQSSGKFHQES	4.0	2.0	unscreened	-	4317_2:201436583-201436583 C>G_EKRITNEQEETYCLSQSSGKFHQES
19:3831491-3831491 G>A	0.0	4317	RECTAL	-	-	-	-	ZFR2	uc002lyw.2,p.A221V|ENST00000438164,p.A221V|ENST00000262961,p.A221V|NM_015174,p.A221V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002lyw.2	nonsynonymous SNV	exon5	c.C662T	p.A221V	SVYSAASPFYPPAQPPPPPGPPQQL	SVYSAASPFYPPVQPPPPPGPPQQL	1.0	9.0	unscreened	-	4317_19:3831491-3831491 G>A_SVYSAASPFYPPVQPPPPPGPPQQL
5:94956415-94956415 G>C	0.0	4317	RECTAL	-	-	-	-	GPR150	ENST00000380007,p.E146Q|NM_199243,p.E146Q|uc003kle.1,p.E146Q	protein_coding	uc003kle.1	nonsynonymous SNV	exon1	c.G436C	p.E146Q	GASAHLVVLIALERRRAVRLPHGRP	GASAHLVVLIALQRRRAVRLPHGRP	1.0	8.0	unscreened	-	4317_5:94956415-94956415 G>C_GASAHLVVLIALQRRRAVRLPHGRP
11:62455622-62455622 T>A	0.0	4317	RECTAL	-	-	-	-	LRRN4CL	uc021qkm.1,p.D120V|NM_203422,p.D120V|ENST00000317449,p.D120V|uc001nun.3,p.D120V	protein_coding	uc021qkm.1	nonsynonymous SNV	exon1	c.A359T	p.D120V	FSPVLHYWLLLWDGSEAAQKGPPLN	FSPVLHYWLLLWVGSEAAQKGPPLN	1.0	3.0	unscreened	-	4317_11:62455622-62455622 T>A_FSPVLHYWLLLWVGSEAAQKGPPLN
10:19493938-19493938 G>T	0.0	4317	RECTAL	-	-	-	-	MALRD1	ENST00000377266,p.W83C|ENST00000454679,p.W70C|NM_001142308,p.W774C	protein_coding, processed_transcript	NM_001142308	nonsynonymous SNV	exon17	c.G2322T	p.W774C	VIWRVLYNQGKQWLEATIQLGRLSQ	VIWRVLYNQGKQCLEATIQLGRLSQ	4.0	8.0	unscreened	-	4317_10:19493938-19493938 G>T_VIWRVLYNQGKQCLEATIQLGRLSQ
4:147561638-147561638 A>C	0.0	4317	RECTAL	-	-	-	-	POU4F2	ENST00000281321,p.E303A|NM_004575,p.E303A|uc003ikv.3,p.E303A	protein_coding	uc003ikv.3	nonsynonymous SNV	exon2	c.A908C	p.E303A	VGSLSQSTICRFESLTLSHNNMIAL	VGSLSQSTICRFASLTLSHNNMIAL	1.0	4.0	unscreened	-	4317_4:147561638-147561638 A>C_VGSLSQSTICRFASLTLSHNNMIAL
3:102181207-102181207 C>G	0.0	4317	RECTAL	-	-	-	-	ZPLD1	NM_175056,p.T238S|uc003dvs.1,p.T222S|ENST00000306176,p.T238S|uc011bhg.1,p.T222S|ENST00000491959,p.T222S|ENST00000466937,p.T222S|uc003dvt.1,p.T238S	protein_coding, processed_transcript	uc011bhg.1	nonsynonymous SNV	exon7	c.C665G	p.T222S	PLKTKVFAAVQATNLDGRWNVLMDY	PLKTKVFAAVQASNLDGRWNVLMDY	1.0	2.0	unscreened	-	4317_3:102181207-102181207 C>G_PLKTKVFAAVQASNLDGRWNVLMDY
1:42047820-42047820 C>A	1.0	4317	RECTAL	-	-	-	-	HIVEP3	NM_024503,p.E883D|uc001cgz.4,p.E883D|ENST00000372583,p.E883D|ENST00000247584,p.E883D|ENST00000429157,p.E883D|NM_001127714,p.E883D|ENST00000372584,p.E883D|uc001cha.4,p.E883D	protein_coding, processed_transcript	uc001cha.4	nonsynonymous SNV	exon3	c.G2649T	p.E883D	PEPPPKEPEKTEEFQWPQRSQTLAQ	PEPPPKEPEKTEDFQWPQRSQTLAQ	4.0	4.0	-	-	4317_1:42047820-42047820 C>A_PEPPPKEPEKTEDFQWPQRSQTLAQ
18:694321-694321 T>C	1.0	4317	RECTAL	-	-	-	-	ENOSF1	NM_202758,p.K129R|uc002kku.4,p.K108R|ENST00000340116,p.K129R|ENST00000581475,p.K108R|ENST00000539164,p.K108R|uc010dkf.3,p.K129R|NM_017512,p.K108R|ENST00000584453,p.K108R|ENST00000251101,p.K108R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dkf.3	nonsynonymous SNV	exon4	c.A386G	p.K129R	TSDGQLRWIGPEKGVVHLATAAVLN	TSDGQLRWIGPERGVVHLATAAVLN	10.0	5.0	unscreened	-	4317_18:694321-694321 T>C_TSDGQLRWIGPERGVVHLATAAVLN
12:41410679-41410679 C>T	0.0	4317	RECTAL	-	-	-	-	CNTN1	uc001rmm.2,p.P794S|ENST00000348761,p.P783S|ENST00000551295,p.P794S|uc031qgz.1,p.P783S|NM_175038,p.P783S|ENST00000347616,p.P794S|NM_001843,p.P794S	protein_coding, processed_transcript, nonsense_mediated_decay	uc031qgz.1	nonsynonymous SNV	exon17	c.C2347T	p.P783S	VKVKAFNNKGDGPYSLVAVINSAQD	VKVKAFNNKGDGSYSLVAVINSAQD	3.0	3.0	unscreened	-	4317_12:41410679-41410679 C>T_VKVKAFNNKGDGSYSLVAVINSAQD
1:174190249-174190249 C>G	1.0	4317	RECTAL	-	-	-	-	RABGAP1L	ENST00000457696,p.A93G|ENST00000251507,p.A93G|uc009wwq.2,p.A93G|uc001gjw.3,p.A56G|NM_014857,p.A93G|ENST00000357444,p.A56G|uc001gjx.3,p.A93G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009wwq.2	nonsynonymous SNV	exon3	c.C278G	p.A93G	SEISDHSFGDIPASQTNKPSLQLIL	SEISDHSFGDIPGSQTNKPSLQLIL	10.0	2.0	-	-	4317_1:174190249-174190249 C>G_SEISDHSFGDIPGSQTNKPSLQLIL
10:95380722-95380722 A>C	0.0	4317	RECTAL	-	-	-	-	PDE6C	NM_006204,p.E236D|uc001kiu.4,p.E236D|ENST00000371447,p.E236D	protein_coding, processed_transcript	uc001kiu.4	nonsynonymous SNV	exon3	c.A708C	p.E236D	LRLHHTSYMYNIESRRSQILMWSAN	LRLHHTSYMYNIDSRRSQILMWSAN	1.0	1.0	unscreened	-	4317_10:95380722-95380722 A>C_LRLHHTSYMYNIDSRRSQILMWSAN
1:232941088-232941088 T>G	0.0	4317	RECTAL	-	-	-	-	MAP10	ENST00000418460,p.S107A|NM_019090,p.S107A|uc001hvh.2,p.S107A	protein_coding	uc001hvh.2	nonsynonymous SNV	exon1	c.T319G	p.S107A	HRPRPAGALPQISRDSRQRCLLLRF	HRPRPAGALPQIARDSRQRCLLLRF	1.0	1.0	unscreened	-	4317_1:232941088-232941088 T>G_HRPRPAGALPQIARDSRQRCLLLRF
19:35843323-35843323 C>T	0.0	4317	RECTAL	-	-	-	-	FFAR1	ENST00000246553,p.A290V|NM_005303,p.A290V|uc002nzc.2,p.A290V	protein_coding	uc002nzc.2	nonsynonymous SNV	exon1	c.C869T	p.A290V	YLGRGPGLKTVCAARTQGGKSQK	YLGRGPGLKTVCVARTQGGKSQK	1.0	10.0	unscreened	-	4317_19:35843323-35843323 C>T_YLGRGPGLKTVCVARTQGGKSQK
6:130415454-130415454 A>C	0.0	4317	RECTAL	-	-	-	-	L3MBTL3	NM_001007102,p.T535P|ENST00000526019,p.T535P|ENST00000533560,p.T535P|ENST00000368139,p.T535P|ENST00000529410,p.T560P|uc003qbt.3,p.T560P|NM_032438,p.T560P|ENST00000368136,p.T560P|ENST00000361794,p.T560P|uc003qbu.3,p.T535P	retained_intron, protein_coding	uc003qbu.3	nonsynonymous SNV	exon17	c.A1603C	p.T535P	ELMEASEHGGCSTPGCKGIGHFKRA	ELMEASEHGGCSPPGCKGIGHFKRA	1.0	2.0	unscreened	-	4317_6:130415454-130415454 A>C_ELMEASEHGGCSPPGCKGIGHFKRA
4:96163601-96163601 T>C	0.0	4317	RECTAL	-	-	-	-	UNC5C	NM_003728,p.T363A|uc003hto.3,p.T363A|ENST00000453304,p.T363A	protein_coding	uc003hto.3	nonsynonymous SNV	exon7	c.A1087G	p.T363A	DCDGLVLQSKNCTDGLCMQTAPDSD	DCDGLVLQSKNCADGLCMQTAPDSD	3.0	1.0	unscreened	-	4317_4:96163601-96163601 T>C_DCDGLVLQSKNCADGLCMQTAPDSD
9:84607105-84607105 C>T	0.0	4317	RECTAL	-	-	-	-	SPATA31D1	NM_001001670,p.H574Y|ENST00000344803,p.H574Y|uc004amn.3,p.H574Y	protein_coding	uc004amn.3	nonsynonymous SNV	exon4	c.C1720T	p.H574Y	PLPQTLPQGQSPHLTQVKSLAQPQS	PLPQTLPQGQSPYLTQVKSLAQPQS	1.0	7.0	unscreened	-	4317_9:84607105-84607105 C>T_PLPQTLPQGQSPYLTQVKSLAQPQS
1:152636835-152636835 G>A	0.0	4317	RECTAL	-	-	ID=COSM1127380;OCCURENCE=1(prostate),1(oesophagus)	-	LCE2D	ENST00000368784,p.R85Q|uc021ozb.1,p.R85Q|NM_178430,p.R85Q|uc001fag.4,p.R85Q	protein_coding	uc021ozb.1	nonsynonymous SNV	exon1	c.G254A	p.R85Q	LSHHRPRLFHRRRHQSPDCCESEPS	LSHHRPRLFHRRQHQSPDCCESEPS	1.0	10.0	unscreened	-	4317_1:152636835-152636835 G>A_LSHHRPRLFHRRQHQSPDCCESEPS
10:11911777-11911777 C>T	0.0	4317	RECTAL	-	-	-	-	PROSER2	ENST00000379200,p.T31I|NM_153256,p.T227I|uc001ikx.3,p.T227I|ENST00000277570,p.T227I	protein_coding, processed_transcript	uc001ikx.3	nonsynonymous SNV	exon4	c.C680T	p.T227I	SPFREGRPGEWRTPAARGPRSGDPG	SPFREGRPGEWRIPAARGPRSGDPG	6.0	6.0	unscreened	-	4317_10:11911777-11911777 C>T_SPFREGRPGEWRIPAARGPRSGDPG
4:81967671-81967671 G>C	0.0	4317	RECTAL	-	-	-	-	BMP3	uc003hmg.4,p.E366Q|NM_001201,p.E366Q|ENST00000282701,p.E366Q	protein_coding	uc003hmg.4	nonsynonymous SNV	exon2	c.G1096C	p.E366Q	QTLKKARRKQWIEPRNCARRYLKVD	QTLKKARRKQWIQPRNCARRYLKVD	1.0	2.0	unscreened	-	4317_4:81967671-81967671 G>C_QTLKKARRKQWIQPRNCARRYLKVD
20:30898602-30898602 A>C	1.0	4317	RECTAL	-	-	-	-	KIF3B	ENST00000418717,p.K29T|uc010ztw.2,p.K341T|NM_004798,p.K341T|uc002wxq.3,p.K341T|uc010ztv.2,p.K341T|ENST00000375712,p.K341T	protein_coding	uc010ztw.2	nonsynonymous SNV	exon1	c.A1022C	p.K341T	TTLRYANRAKNIKNKPRVNEDPKDA	TTLRYANRAKNITNKPRVNEDPKDA	8.0	1.0	-	-	4317_20:30898602-30898602 A>C_TTLRYANRAKNITNKPRVNEDPKDA
22:42564721-42564721 G>A	1.0	4317	RECTAL	-	-	-	-	TCF20	uc003bcj.1,p.P1941S|NM_005650,p.P1941S|ENST00000359486,p.P1941S	protein_coding	uc003bcj.1	nonsynonymous SNV	exon4	c.C5821T	p.P1941S	CPKHKPPLPCPLPPLQNKTAKGSLS	CPKHKPPLPCPLSPLQNKTAKGSLS	9.0	9.0	-	-	4317_22:42564721-42564721 G>A_CPKHKPPLPCPLSPLQNKTAKGSLS
15:58357754-58357754 T>A	0.0	4317	RECTAL	-	-	-	-	ALDH1A2	ENST00000430119,p.N32I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000430119	nonsynonymous SNV	exon1	c.A95T	p.N32I	MASLHLLPSPTPNLEIKYTKV	MASLHLLPSPTPILEIKYTKV	4.0	4.0	unscreened	-	4317_15:58357754-58357754 T>A_MASLHLLPSPTPILEIKYTKV
8:125107257-125107257 A>C	0.0	4317	RECTAL	-	-	-	-	FER1L6	ENST00000522917,p.K1558T|NM_001039112,p.K1558T|uc003yqw.3,p.K1558T|ENST00000399018,p.K1558T	protein_coding	uc003yqw.3	nonsynonymous SNV	exon35	c.A4673C	p.K1558T	VPEHIETRPLYHKDKPGMEQGRLQM	VPEHIETRPLYHTDKPGMEQGRLQM	4.0	1.0	unscreened	-	4317_8:125107257-125107257 A>C_VPEHIETRPLYHTDKPGMEQGRLQM
19:54848366-54848366 A>T	0.0	4317	RECTAL	-	-	-	-	LILRA4	uc002qfj.3,p.V334E|ENST00000291759,p.V334E|uc002qfi.3,p.V268E|NM_012276,p.V334E|ENST00000595581,p.V33E	retained_intron, protein_coding, non_stop_decay	uc002qfj.3	nonsynonymous SNV	exon6	c.T1001A	p.V334E	DRPSLSVQPGPTVTSGEKVTLLCQS	DRPSLSVQPGPTETSGEKVTLLCQS	5.0	3.0	unscreened	-	4317_19:54848366-54848366 A>T_DRPSLSVQPGPTETSGEKVTLLCQS
17:34077305-34077305 G>C	0.0	4317	RECTAL	-	-	-	-	GAS2L2	ENST00000254466,p.L140V|ENST00000587565,p.L140V|NM_139285,p.L140V|uc002hjv.2,p.L140V	protein_coding	uc002hjv.2	nonsynonymous SNV	exon2	c.C418G	p.L140V	QEVLMFETEDLVLRKNVKNVVLCLL	QEVLMFETEDLVVRKNVKNVVLCLL	1.0	6.0	unscreened	-	4317_17:34077305-34077305 G>C_QEVLMFETEDLVVRKNVKNVVLCLL
15:58357754-58357754 T>A	0.0	4317	RECTAL	-	-	-	-	ALDH1A2	NM_170696,p.N32I|ENST00000347587,p.N32I|NM_003888,p.N32I|ENST00000249750,p.N32I|uc002aey.3,p.N32I|uc002aex.3,p.N32I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002aey.3	nonsynonymous SNV	exon1	c.A95T	p.N32I	MASLHLLPSPTPNLEIKYTKIFINN	MASLHLLPSPTPILEIKYTKIFINN	4.0	4.0	-	-	4317_15:58357754-58357754 T>A_MASLHLLPSPTPILEIKYTKIFINN
4:145041707-145041707 C>A	0.0	4317	RECTAL	-	rs7658293	ID=COSM3683233;OCCURENCE=2(thyroid)	-	GYPA	NM_002099,p.E24D|uc010ios.2,p.E24D|ENST00000512064,p.E24D|ENST00000503627,p.E24D|uc003ijp.4,p.E24D|uc010ioq.3,p.E24D|uc031shj.1,p.E24D|ENST00000360771,p.E24D|uc003ijo.4,p.E24D|uc003ijn.2,p.E24D|ENST00000504786,p.E24D	retained_intron, protein_coding, nonsense_mediated_decay	uc031shj.1	nonsynonymous SNV	exon2	c.G72T	p.E24D	SEIVSISALSTTEVAMHTSTSSSVT	SEIVSISALSTTDVAMHTSTSSSVT	1.0	7.0	unscreened	-	4317_4:145041707-145041707 C>A_SEIVSISALSTTDVAMHTSTSSSVT
6:86257235-86257235 C>G	1.0	4317	RECTAL	-	-	-	-	SNX14	uc003pkt.3,p.D301H|ENST00000515216,p.D228H|ENST00000369627,p.D301H|ENST00000505648,p.D249H|uc011dzg.2,p.D249H|uc003pkr.3,p.D301H|ENST00000513865,p.D301H|uc003pkp.3,p.D164H|uc003pks.3,p.D257H|NM_020468,p.D257H|ENST00000314673,p.D301H|NM_001297614,p.D301H|ENST00000346348,p.D257H|NM_153816,p.D301H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dzg.2	nonsynonymous SNV	exon10	c.G745C	p.D249H	PDTVNHLLIIFIDDSPPEKATEPAS	PDTVNHLLIIFIHDSPPEKATEPAS	9.0	8.0	-	-	4317_6:86257235-86257235 C>G_PDTVNHLLIIFIHDSPPEKATEPAS
19:10571763-10571763 G>T	0.0	4317	RECTAL	-	-	-	-	PDE4A	NM_001111308,p.Q457H|ENST00000440014,p.Q422H|uc002mok.2,p.Q457H|ENST00000352831,p.Q483H|ENST00000592685,p.Q461H|uc002moo.2,p.Q149H|uc002mom.2,p.Q244H|ENST00000591971,p.Q204H|ENST00000344979,p.Q244H|NM_001243121,p.Q461H|ENST00000380702,p.Q461H|ENST00000293683,p.Q457H|NM_001111309,p.Q422H|NM_006202,p.Q244H|uc021uow.1,p.Q461H|NM_001111307,p.Q483H|uc002moj.2,p.Q483H|uc002mol.2,p.Q422H	retained_intron, protein_coding, nonsense_mediated_decay	uc021uow.1	nonsynonymous SNV	exon13	c.G1383T	p.Q461H	AIHDVDHPGVSNQFLINTNSELALM	AIHDVDHPGVSNHFLINTNSELALM	8.0	3.0	unscreened	-	4317_19:10571763-10571763 G>T_AIHDVDHPGVSNHFLINTNSELALM
4:96163601-96163601 T>C	0.0	4317	RECTAL	-	-	-	-	UNC5C	uc003htq.3,p.T363A|ENST00000513796,p.T363A|uc010ilc.2,p.T363A|ENST00000506749,p.T363A	protein_coding	uc010ilc.2	nonsynonymous SNV	exon7	c.A1087G	p.T363A	DCDGLVLQSKNCTDGLCMQSFIYPI	DCDGLVLQSKNCADGLCMQSFIYPI	3.0	1.0	unscreened	-	4317_4:96163601-96163601 T>C_DCDGLVLQSKNCADGLCMQSFIYPI
12:53585355-53585355 G>C	0.0	4317	RECTAL	-	-	-	-	ITGB7	NM_000889,p.D794E|ENST00000550743,p.D646E|ENST00000267082,p.D794E|ENST00000338737,p.D646E|ENST00000422257,p.D794E|uc009zmv.3,p.D794E|uc001scc.3,p.D794E	retained_intron, protein_coding, nonsense_mediated_decay	uc009zmv.3	nonsynonymous SNV	exon15	c.C2382G	p.D794E	ITTTINPRFQEADSPTL	ITTTINPRFQEAESPTL	4.0	4.0	-	-	4317_12:53585355-53585355 G>C_ITTTINPRFQEAESPTL
1:201780774-201780774 G>A	0.0	4317	RECTAL	-	-	-	-	NAV1	ENST00000367297,p.R1606Q|ENST00000367300,p.R1554Q|NM_001167738,p.R1220Q|uc001gwx.3,p.R1220Q|NM_020443,p.R1614Q|ENST00000367296,p.R1614Q|ENST00000367295,p.R1220Q|uc021phi.1,p.R1614Q|ENST00000367302,p.R1567Q|ENST00000295624,p.R1611Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021phi.1	nonsynonymous SNV	exon25	c.G4841A	p.R1614Q	QLYLSNLANQIDRETGIGDVPLVIL	QLYLSNLANQIDQETGIGDVPLVIL	5.0	9.0	-	-	4317_1:201780774-201780774 G>A_QLYLSNLANQIDQETGIGDVPLVIL
2:27803907-27803907 T>G	0.0	4317	RECTAL	-	-	-	-	C2orf16	ENST00000408964,p.F1490V|NM_032266,p.F1490V|uc002rkz.4,p.F1490V	protein_coding	uc002rkz.4	nonsynonymous SNV	exon1	c.T4468G	p.F1490V	VQKDSSSRSKKNFYRNETSSQESKN	VQKDSSSRSKKNVYRNETSSQESKN	1.0	1.0	unscreened	-	4317_2:27803907-27803907 T>G_VQKDSSSRSKKNVYRNETSSQESKN
1:151810909-151810909 C>T	0.0	4317	RECTAL	-	-	-	-	C2CD4D	NM_001136003,p.R186H|uc021oyv.1,p.R186H|ENST00000454109,p.R186H|uc010pdq.1,p.R186H	protein_coding	uc021oyv.1	nonsynonymous SNV	exon1	c.G557A	p.R186H	ASSADTSPHSPRRAGPPTPPLFHLD	ASSADTSPHSPRHAGPPTPPLFHLD	3.0	3.0	unscreened	-	4317_1:151810909-151810909 C>T_ASSADTSPHSPRHAGPPTPPLFHLD
14:36041924-36041924 A>C	0.0	4317	RECTAL	-	-	-	-	RALGAPA1	ENST00000258840,p.L1945V|NM_001283043,p.L1911V|ENST00000389698,p.L1898V|ENST00000553892,p.L1945V|NM_194301,p.L1898V|uc001wti.3,p.L1898V|NM_014990,p.L1898V|ENST00000382366,p.L1911V|NM_001283044,p.L1945V|ENST00000307138,p.L1898V|uc010tpw.1,p.L1945V|uc010tpv.2,p.L1911V|ENST00000554259,p.L536V|uc001wtj.3,p.L1898V	retained_intron, protein_coding, processed_transcript	uc010tpw.1	nonsynonymous SNV	exon38	c.T5833G	p.L1945V	MPSDSDDSLTKKLRHLGNDEVHIVW	MPSDSDDSLTKKVRHLGNDEVHIVW	8.0	2.0	-	-	4317_14:36041924-36041924 A>C_MPSDSDDSLTKKVRHLGNDEVHIVW
6:46982544-46982544 T>A	0.0	4317	RECTAL	-	-	-	-	GPR110	ENST00000371253,p.K267M|NM_153840,p.K267M|uc003oyt.3,p.K267M|ENST00000283297,p.K70M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003oyt.3	nonsynonymous SNV	exon9	c.A800T	p.K267M	AQCNDIVFGFGSKDDEYTLPCSSGY	AQCNDIVFGFGSMDDEYTLPCSSGY	4.0	5.0	unscreened	-	4317_6:46982544-46982544 T>A_AQCNDIVFGFGSMDDEYTLPCSSGY
X:125299172-125299172 G>A	0.0	4317	RECTAL	-	-	-	2	DCAF12L2	ENST00000360028,p.R246C|ENST00000538699,p.R246C|NM_001013628,p.R246C|uc004euk.2,p.R246C	protein_coding	uc004euk.2	nonsynonymous SNV	exon1	c.C736T	p.R246C	HSEVGLPVYAHIRPRDVEAIPRAST	HSEVGLPVYAHICPRDVEAIPRAST	1.0	9.0	unscreened	-	4317_X:125299172-125299172 G>A_HSEVGLPVYAHICPRDVEAIPRAST
13:23905135-23905135 A>C	0.0	4317	RECTAL	-	-	-	-	SACS	NM_014363,p.S4294A|uc001uoo.3,p.S4147A|NM_001278055,p.S4147A|ENST00000382292,p.S4294A|ENST00000402364,p.S3544A|uc001uon.3,p.S4294A|ENST00000382298,p.S4294A	protein_coding, processed_transcript	uc001uoo.3	nonsynonymous SNV	exon8	c.T12439G	p.S4147A	GRESHKTSSKHQSPKKLKVNSLPEI	GRESHKTSSKHQAPKKLKVNSLPEI	3.0	1.0	unscreened	-	4317_13:23905135-23905135 A>C_GRESHKTSSKHQAPKKLKVNSLPEI
6:44310876-44310876 G>A	0.0	4317	RECTAL	-	-	-	-	SPATS1	ENST00000515220,p.R15H|uc021yzz.1,p.R15H|NM_145026,p.R15H|uc003oxk.3,p.R15H|ENST00000506468,p.R15H|ENST00000323108,p.R15H|ENST00000288390,p.R15H	protein_coding, nonsense_mediated_decay	uc021yzz.1	nonsynonymous SNV	exon2	c.G44A	p.R15H	PSMLTGNSPRGCRLPSISSTTCGRQ	PSMLTGNSPRGCHLPSISSTTCGRQ	1.0	9.0	unscreened	-	4317_6:44310876-44310876 G>A_PSMLTGNSPRGCHLPSISSTTCGRQ
1:158669760-158669760 C>T	0.0	4317	RECTAL	-	-	ID=COSM3399857;OCCURENCE=1(central_nervous_system)	-	OR6K2	NM_001005279,p.R228H|ENST00000359610,p.R228H|uc001fsu.1,p.R228H	protein_coding	uc001fsu.1	nonsynonymous SNV	exon1	c.G683A	p.R228H	FMSYDGIVAVILRIHSAGGRRTAFS	FMSYDGIVAVILHIHSAGGRRTAFS	1.0	4.0	unscreened	-	4317_1:158669760-158669760 C>T_FMSYDGIVAVILHIHSAGGRRTAFS
21:14982809-14982809 A>G	0.0	4317	RECTAL	-	-	-	-	POTED	uc002yjb.1,p.E87G|NM_174981,p.E87G|ENST00000299443,p.E87G	protein_coding	uc002yjb.1	nonsynonymous SNV	exon1	c.A260G	p.E87G	SGTSNVGTSGDHENSFMKMLRSKMG	SGTSNVGTSGDHGNSFMKMLRSKMG	1.0	4.0	unscreened	-	4317_21:14982809-14982809 A>G_SGTSNVGTSGDHGNSFMKMLRSKMG
2:42720401-42720401 C>T	0.0	4317	RECTAL	-	-	-	-	KCNG3	uc002rsm.3,p.G81S|ENST00000306078,p.G81S|uc002rsn.3,p.G81S|NM_172344,p.G81S|ENST00000394973,p.G81S|NM_133329,p.G81S	protein_coding	uc002rsn.3	nonsynonymous SNV	exon1	c.G241A	p.G81S	AFGFILLYVRGHGKLRFAPRMCELS	AFGFILLYVRGHSKLRFAPRMCELS	1.0	6.0	unscreened	-	4317_2:42720401-42720401 C>T_AFGFILLYVRGHSKLRFAPRMCELS
15:22074672-22074672 G>T	0.0	4317	RECTAL	-	-	-	-	POTEB,POTEB2,POTEB3	ENST00000435397,p.H244N|ENST00000439682,p.H244N|NM_001277303,p.H244N|NM_001277304,p.H244N	protein_coding, processed_transcript, nonsense_mediated_decay	NM_001277304	nonsynonymous SNV	exon4	c.C730A	p.H244N	NKCGLTPLLLGVHEQKQEVVKFLIK	NKCGLTPLLLGVNEQKQEVVKFLIK	1.0	7.0	unscreened	-	4317_15:22074672-22074672 G>T_NKCGLTPLLLGVNEQKQEVVKFLIK
20:25462648-25462648 C>A	1.0	4317	RECTAL	-	-	-	-	NINL	uc002wux.1,p.S589I|uc010gdn.1,p.S589I|uc010gdo.1,p.S372I|NM_025176,p.S589I|ENST00000422516,p.S589I|ENST00000278886,p.S589I	protein_coding, processed_transcript	uc010gdo.1	nonsynonymous SNV	exon14	c.G1115T	p.S372I	ARLPKNRHSPSWSPDGRRRQLPGLG	ARLPKNRHSPSWIPDGRRRQLPGLG	6.0	8.0	-	-	4317_20:25462648-25462648 C>A_ARLPKNRHSPSWIPDGRRRQLPGLG
11:2337897-2337897 G>A	0.0	4317	RECTAL	-	-	-	-	TSPAN32	uc001lwc.1,p.R185Q|ENST00000381117,p.R185Q|uc001lwd.1,p.R172Q|ENST00000182290,p.R240Q|ENST00000451520,p.R229Q|NM_139022,p.R240Q|uc001lvy.1,p.R240Q|uc001lvz.1,p.R210Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001lwd.1	nonsynonymous SNV	exon1	c.G515A	p.R172Q	SLDRKGKYTLTPRACGRQPQEPSLL	SLDRKGKYTLTPQACGRQPQEPSLL	5.0	9.0	unscreened	-	4317_11:2337897-2337897 G>A_SLDRKGKYTLTPQACGRQPQEPSLL
7:107739016-107739016 C>T	0.0	4317	RECTAL	-	-	-	-	LAMB4	NM_007356,p.D398N|ENST00000418464,p.D398N|uc010ljo.1,p.D398N|ENST00000414450,p.D398N|uc003vey.2,p.D398N|ENST00000205386,p.D398N|ENST00000388780,p.D398N|ENST00000388781,p.D398N	retained_intron, protein_coding, processed_transcript	uc010ljo.1	nonsynonymous SNV	exon11	c.G1192A	p.D398N	ISDPYACIPCECDPDGTISGGICVS	ISDPYACIPCECNPDGTISGGICVS	1.0	9.0	unscreened	-	4317_7:107739016-107739016 C>T_ISDPYACIPCECNPDGTISGGICVS
11:56058021-56058021 A>T	0.0	4317	RECTAL	-	-	-	-	OR8H1	NM_001005199,p.V173D|ENST00000313022,p.V173D|uc010rje.2,p.V173D	protein_coding	uc010rje.2	nonsynonymous SNV	exon1	c.T518A	p.V173D	WMSRLHFCDSNVVRHFFCDTSPILA	WMSRLHFCDSNVDRHFFCDTSPILA	1.0	5.0	unscreened	-	4317_11:56058021-56058021 A>T_WMSRLHFCDSNVDRHFFCDTSPILA
5:179762845-179762845 C>T	0.0	4317	RECTAL	-	-	ID=COSM1436661;OCCURENCE=1(large_intestine)	-	GFPT2	ENST00000253778,p.R108H|uc003mlw.1,p.R108H|NM_005110,p.R108H	retained_intron, protein_coding, processed_transcript	uc003mlw.1	nonsynonymous SNV	exon4	c.G323A	p.R108H	HGVPSAVNSHPQRSDKGNEFVVIHN	HGVPSAVNSHPQHSDKGNEFVVIHN	4.0	5.0	-	-	4317_5:179762845-179762845 C>T_HGVPSAVNSHPQHSDKGNEFVVIHN
4:108552823-108552823 T>G	1.0	4317	RECTAL	-	-	-	-	PAPSS1	NM_005443,p.K567T|uc003hyk.3,p.K567T|ENST00000265174,p.K567T	retained_intron, protein_coding, processed_transcript	uc003hyk.3	nonsynonymous SNV	exon11	c.A1700C	p.K567T	LEIVPFRVAAYNKKKKRMDYYDSEH	LEIVPFRVAAYNTKKKRMDYYDSEH	6.0	6.0	-	-	4317_4:108552823-108552823 T>G_LEIVPFRVAAYNTKKKRMDYYDSEH
19:41383128-41383128 C>A	0.0	4317	RECTAL	-	-	-	-	CYP2A7	uc002opm.3,p.K376N|ENST00000301146,p.K376N|uc002opo.3,p.K376N|NM_000764,p.K376N|ENST00000291764,p.K325N|uc002opn.3,p.K325N|NM_030589,p.K325N	retained_intron, protein_coding, nonsense_mediated_decay	uc002opo.3	nonsynonymous SNV	exon7	c.G1128T	p.K376N	DVIPMSLARRVKKDTKFRDFFLPKG	DVIPMSLARRVKNDTKFRDFFLPKG	3.0	5.0	unscreened	-	4317_19:41383128-41383128 C>A_DVIPMSLARRVKNDTKFRDFFLPKG
11:30928133-30928133 T>C	0.0	4317	RECTAL	-	-	-	-	DCDC5	uc009yjk.1,p.Q801R|NM_020869,p.Q460R|ENST00000406071,p.Q88R|ENST00000597505,p.Q1353R|ENST00000339794,p.Q432R|uc021qfk.1,p.Q460R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qfk.1	nonsynonymous SNV	exon11	c.A1379G	p.Q460R	GVPFLCISGTKTQKPFLQGPFKVIS	GVPFLCISGTKTRKPFLQGPFKVIS	4.0	2.0	unscreened	-	4317_11:30928133-30928133 T>C_GVPFLCISGTKTRKPFLQGPFKVIS
19:17397335-17397335 C>T	0.0	4317	RECTAL	-	-	-	-	ANKLE1	uc010eao.1,p.P604S|NM_152363,p.P662S|NM_001278443,p.P625S|ENST00000404085,p.P604S|uc002nfz.2,p.P314S|NM_001278445,p.P604S|uc002nga.2,p.P608S|ENST00000594072,p.P571S|uc002nfy.2,p.P571S|ENST00000394458,p.P608S	retained_intron, protein_coding, nonsense_mediated_decay	uc010eao.1	nonsynonymous SNV	exon9	c.C1810T	p.P604S	LVFLAEGERQLHPQDIQARG	LVFLAEGERQLHSQDIQARG	3.0	8.0	unscreened	-	4317_19:17397335-17397335 C>T_LVFLAEGERQLHSQDIQARG
17:27308685-27308685 T>C	0.0	4317	RECTAL	-	-	-	-	SEZ6	uc010cry.1,p.E143G|NM_001098635,p.E143G|ENST00000585644,p.E18G|ENST00000317338,p.E143G|uc010crz.1,p.E143G|ENST00000540632,p.E69G|ENST00000442608,p.E143G|ENST00000360295,p.E143G|NM_178860,p.E143G|NM_001290202,p.E18G|ENST00000335960,p.E143G|uc002hdq.1,p.E18G|uc002hdp.2,p.E143G	retained_intron, protein_coding, nonsense_mediated_decay	uc010crz.1	nonsynonymous SNV	exon2	c.A428G	p.E143G	TQPQSKEGPWSPESESPMLRITAPL	TQPQSKEGPWSPGSESPMLRITAPL	1.0	2.0	unscreened	-	4317_17:27308685-27308685 T>C_TQPQSKEGPWSPGSESPMLRITAPL
X:67943519-67943519 ->C	0.0	4317	RECTAL	-	-	ID=COSM294854,COSM294855,COSM294853;OCCURENCE=1(large_intestine)	-	STARD8	NM_001142504,p.A871fs|ENST00000252336,p.A871fs|NM_014725,p.A871fs|uc004dxb.3,p.A951fs|ENST00000374599,p.A951fs|uc004dxa.3,p.A871fs|uc004dxc.4,p.A871fs|ENST00000374597,p.A871fs|NM_001142503,p.A951fs	protein_coding, processed_transcript, nonsense_mediated_decay	uc004dxc.4	frameshift insertion	exon12	c.2612dupC	p.A871fs	PLRLWKASTEVAAPPAVVLHRVLRE	PLRLWKASTEVAAPPSCGAASCSPGAGPLG	4.0	9.0	unscreened	-	4317_X:67943519-67943519 ->C_PLRLWKASTEVAAPPSCGAASCSPGAGPLG
11:2337897-2337897 G>A	0.0	4317	RECTAL	-	-	-	-	TSPAN32	ENST00000381121,p.R240H|uc001lwb.1,p.R210H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001lwb.1	nonsynonymous SNV	exon7	c.G629A	p.R210H	SLDRKGKYTLTPRSPGQKSRWAQWV	SLDRKGKYTLTPHSPGQKSRWAQWV	5.0	9.0	unscreened	-	4317_11:2337897-2337897 G>A_SLDRKGKYTLTPHSPGQKSRWAQWV
4:54325572-54325572 C>A	0.0	4317	RECTAL	-	-	-	1	FIP1L1	NM_001134937,p.P575T|NM_030917,p.P581T|ENST00000358575,p.P575T|uc003gzz.3,p.P507T|ENST00000306932,p.P507T|uc003gzy.3,p.P581T|uc003hab.3,p.P546T|ENST00000504094,p.P241T|uc011bzu.2,p.P575T|ENST00000337488,p.P581T|NM_001134938,p.P507T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bzu.2	nonsynonymous SNV	exon18	c.C1723A	p.P575T	KRSKEGKEAGSEPAPEQESTEATPA	KRSKEGKEAGSETAPEQESTEATPA	10.0	2.0	-	-	4317_4:54325572-54325572 C>A_KRSKEGKEAGSETAPEQESTEATPA
21:32253365-32253365 C>T	0.0	4317	RECTAL	-	-	-	-	KRTAP11-1	ENST00000332378,p.R160Q|uc002yov.3,p.R160Q|NM_175858,p.R160Q	protein_coding	uc002yov.3	nonsynonymous SNV	exon1	c.G479A	p.R160Q	SRTYQQSCVSSCRRTC	SRTYQQSCVSSCQRTC	1.0	9.0	unscreened	-	4317_21:32253365-32253365 C>T_SRTYQQSCVSSCQRTC
12:2656637-2656637 T>G	0.0	4317	RECTAL	-	-	-	-	CACNA1C	ENST00000335762,p.L471R|uc001qkv.1,p.L16R	retained_intron, protein_coding, processed_transcript	uc001qkv.1	nonsynonymous SNV	exon3	c.T47G	p.L16R	EKPRNRGTPAGMLDQKKGKFAWFSH	EKPRNRGTPAGMRDQKKGKFAWFSH	8.0	3.0	-	-	4317_12:2656637-2656637 T>G_EKPRNRGTPAGMRDQKKGKFAWFSH
16:88495146-88495146 C>T	0.0	4317	RECTAL	-	-	-	-	ZNF469	uc002fku.2,p.P423L|NM_001127464,p.P423L|ENST00000565624,p.P423L|ENST00000437464,p.P423L	protein_coding	uc002fku.2	nonsynonymous SNV	exon1	c.C1268T	p.P423L	YRASGVDTSPGPPDTELAAPGPPPA	YRASGVDTSPGPLDTELAAPGPPPA	5.0	7.0	unscreened	-	4317_16:88495146-88495146 C>T_YRASGVDTSPGPLDTELAAPGPPPA
7:100636960-100636960 C>T	1.0	4317	RECTAL	-	-	ID=COSM3831372,COSM3831373;OCCURENCE=1(breast)	-	MUC12	ENST00000379442,p.T1182I|NM_001164462,p.T1039I|ENST00000536621,p.T1039I|uc003uxo.3,p.T1039I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.C3116T	p.T1039I	STPTTHFPASSTTSGHSEKSTIFHS	STPTTHFPASSTISGHSEKSTIFHS	1.0	6.0	-	-	4317_7:100636960-100636960 C>T_STPTTHFPASSTISGHSEKSTIFHS
13:36900820-36900820 T>A	0.0	4317	RECTAL	-	-	-	-	SPG20	NM_015087,p.S394C|NM_001142295,p.S394C|uc001uvo.3,p.S394C|ENST00000438666,p.S394C|ENST00000355182,p.S394C|uc001uvm.3,p.S394C|uc001uvn.3,p.S394C|ENST00000451493,p.S394C|uc001uvp.2,p.S394C|NM_001142296,p.S394C|uc001uvq.3,p.S394C|ENST00000494062,p.S394C|NM_001142294,p.S394C	protein_coding, processed_transcript	uc001uvq.3	nonsynonymous SNV	exon5	c.A1180T	p.S394C	KGKRGKRAKDTSSEEVNLSHIVPCE	KGKRGKRAKDTSCEEVNLSHIVPCE	5.0	5.0	-	-	4317_13:36900820-36900820 T>A_KGKRGKRAKDTSCEEVNLSHIVPCE
3:49867478-49867478 T>A	0.0	4317	RECTAL	-	-	-	-	TRAIP	ENST00000469027,p.K199M|uc003cxs.1,p.K354M|ENST00000331456,p.K354M|NM_005879,p.K354M|uc010hla.1,p.K255M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hla.1	nonsynonymous SNV	exon9	c.A764T	p.K255M	LEKSHSPIQDVPKKICKGPRKESQL	LEKSHSPIQDVPMKICKGPRKESQL	6.0	6.0	-	-	4317_3:49867478-49867478 T>A_LEKSHSPIQDVPMKICKGPRKESQL
11:123814030-123814030 A>T	0.0	4317	RECTAL	-	-	-	-	OR6T1	ENST00000321252,p.N172K|NM_001005187,p.N172K|uc010sab.2,p.N172K	protein_coding	uc010sab.2	nonsynonymous SNV	exon1	c.T516A	p.N172K	TVLMASLPFCGPNGIDHFFRDSWPL	TVLMASLPFCGPKGIDHFFRDSWPL	1.0	3.0	unscreened	-	4317_11:123814030-123814030 A>T_TVLMASLPFCGPKGIDHFFRDSWPL
16:3406604-3406604 G>T	0.0	4317	RECTAL	-	-	-	-	OR2C1	uc002cuw.1,p.A222S|ENST00000304936,p.A222S|NM_012368,p.A222S	protein_coding	uc002cuw.1	nonsynonymous SNV	exon1	c.G664T	p.A222S	PLSIIVISYCLIAQAVLKIRSAEGR	PLSIIVISYCLISQAVLKIRSAEGR	1.0	6.0	unscreened	-	4317_16:3406604-3406604 G>T_PLSIIVISYCLISQAVLKIRSAEGR
X:37948818-37948818 C>A	0.0	4317	RECTAL	-	-	-	-	SYTL5	NM_001163335,p.T270N|uc004ddx.3,p.T270N|NM_001163334,p.T270N|uc004ddu.3,p.T270N|ENST00000456733,p.T270N|NM_138780,p.T270N|ENST00000297875,p.T270N|ENST00000357972,p.T270N|uc004ddv.3,p.T270N	protein_coding	uc004ddx.3	nonsynonymous SNV	exon6	c.C809A	p.T270N	PGTQSSPAPSTRTVTSVISREYGFE	PGTQSSPAPSTRNVTSVISREYGFE	3.0	6.0	unscreened	-	4317_X:37948818-37948818 C>A_PGTQSSPAPSTRNVTSVISREYGFE
5:149264049-149264049 A>T	0.0	4317	RECTAL	-	-	-	-	PDE6A	NM_000440,p.Y674N|ENST00000255266,p.Y674N|uc021yfs.1,p.Y593N|uc003lrg.4,p.Y674N	retained_intron, protein_coding	uc021yfs.1	nonsynonymous SNV	exon14	c.T1777A	p.Y593N	MDIAIIATDLALYFKKRTMFQKIVD	MDIAIIATDLALNFKKRTMFQKIVD	3.0	5.0	unscreened	-	4317_5:149264049-149264049 A>T_MDIAIIATDLALNFKKRTMFQKIVD
20:1538287-1538287 C>A	0.0	4317	RECTAL	-	-	-	-	SIRPD	uc002wfi.3,p.A5S|ENST00000381623,p.A5S|ENST00000381621,p.A5S|NM_178460,p.A5S	protein_coding	uc002wfi.3	nonsynonymous SNV	exon1	c.G13T	p.A5S	MPIPASPLHPPLPSLLL	MPIPSSPLHPPLPSLLL	4.0	2.0	unscreened	-	4317_20:1538287-1538287 C>A_MPIPSSPLHPPLPSLLL
11:314995-315007 TCTGGGCCCTGAT>-	1.0	4317	RECTAL	-	-	-	-	IFITM1	ENST00000528780,p.I87fs|ENST00000408968,p.I87fs|NM_003641,p.I87fs|uc001loy.4,p.I87fs|ENST00000328221,p.I87fs	protein_coding, nonsense_mediated_decay, processed_transcript	uc001loy.4	frameshift deletion	exon2	c.260_272del	p.I87fs	AQAYASTAKCLNIWALILGILMTIG	AQAYASTAKCLNIWASS	10.0	2.0	-	-	4317_11:314995-315007 TCTGGGCCCTGAT>-_AQAYASTAKCLNIWASS
6:30154120-30154120 C>G	1.0	4317	RECTAL	-	-	-	-	TRIM26	ENST00000454678,p.E385Q|uc003npr.3,p.E385Q|uc003npt.3,p.E385Q|uc003nps.3,p.E385Q|ENST00000437089,p.E385Q|uc010jry.3,p.E115Q|NM_001242783,p.E385Q|ENST00000453195,p.E385Q|NM_003449,p.E385Q	retained_intron, protein_coding, processed_transcript	uc010jry.3	nonsynonymous SNV	exon9	c.G343C	p.E115Q	EVEREGWSEDEEEGDEEEEGEEEEE	EVEREGWSEDEEQGDEEEEGEEEEE	8.0	2.0	-	-	4317_6:30154120-30154120 C>G_EVEREGWSEDEEQGDEEEEGEEEEE
6:100061624-100061624 ->CCG	0.0	4317	RECTAL	-	-	-	-	PRDM13	NM_021620,p.D371delinsDP|uc003pqg.1,p.D371delinsDP|ENST00000369215,p.D371delinsDP	protein_coding	uc003pqg.1	nonframeshift insertion	exon4	c.1113_1114insCCG	p.D371delinsDP	HHHHHPKCLLAGDPPPPPPPGLPCS	HHHHHPKCLLAGDPPPPPPPPGLPC	1.0	8.0	unscreened	-	4317_6:100061624-100061624 ->CCG_HHHHHPKCLLAGDPPPPPPPPGLPC
15:65494327-65494327 G>T	0.0	4317	RECTAL	-	-	-	-	CILP	uc002aon.2,p.H357N|ENST00000261883,p.H357N|NM_003613,p.H357N	protein_coding	uc002aon.2	nonsynonymous SNV	exon8	c.C1069A	p.H357N	HNDTLLDPSLYKHESKLVLRKLQQH	HNDTLLDPSLYKNESKLVLRKLQQH	1.0	4.0	unscreened	-	4317_15:65494327-65494327 G>T_HNDTLLDPSLYKNESKLVLRKLQQH
12:56522185-56522185 C>A	1.0	4317	RECTAL	-	-	-	-	ESYT1	uc001sjr.3,p.P28T|ENST00000267113,p.P28T|NM_001184796,p.P28T|ENST00000394048,p.P28T|uc001sjq.3,p.P28T|ENST00000541590,p.P28T|NM_015292,p.P28T	retained_intron, protein_coding, processed_transcript	uc001sjr.3	nonsynonymous SNV	exon1	c.C82A	p.P28T	QPSAPSDPTDQPPAAHAKPDPGSGG	QPSAPSDPTDQPTAAHAKPDPGSGG	9.0	7.0	-	-	4317_12:56522185-56522185 C>A_QPSAPSDPTDQPTAAHAKPDPGSGG
3:44362561-44362561 G>C	0.0	4317	RECTAL	-	-	-	-	TOPAZ1	ENST00000309765,p.R1450T|NM_001145030,p.R1450T|uc003cna.4,p.R1450T	protein_coding	uc003cna.4	nonsynonymous SNV	exon17	c.G4349C	p.R1450T	EWIINTPLWPCDRLDVLNRHNLLCT	EWIINTPLWPCDTLDVLNRHNLLCT	1.0	6.0	unscreened	-	4317_3:44362561-44362561 G>C_EWIINTPLWPCDTLDVLNRHNLLCT
7:152373139-152373139 T>C	0.0	4317	RECTAL	-	-	-	-	XRCC2	NM_005431,p.E9G|uc003wld.3,p.E9G|ENST00000359321,p.E9G	protein_coding, processed_transcript	uc003wld.3	nonsynonymous SNV	exon1	c.A26G	p.E9G	MCSAFHRAESGTELLARLEGR	MCSAFHRAGSGTELLARLEGR	4.0	6.0	unscreened	-	4317_7:152373139-152373139 T>C_MCSAFHRAGSGTELLARLEGR
1:152187218-152187218 G>C	0.0	4317	RECTAL	-	-	-	-	HRNR	NM_001009931,p.S2296C|uc001ezt.2,p.S2296C|ENST00000368801,p.S2296C	protein_coding	uc001ezt.2	nonsynonymous SNV	exon3	c.C6887G	p.S2296C	SQSSSYGQQGSGSGQSPSRGRHGSG	SQSSSYGQQGSGCGQSPSRGRHGSG	1.0	2.0	unscreened	-	4317_1:152187218-152187218 G>C_SQSSSYGQQGSGCGQSPSRGRHGSG
X:134990314-134990314 T>A	0.0	4317	RECTAL	-	-	-	-	SAGE1	uc010nry.1,p.V378D|uc004ezh.3,p.V409D|NM_018666,p.V409D|ENST00000535938,p.V409D|ENST00000324447,p.V409D|ENST00000370709,p.V409D	protein_coding	uc010nry.1	nonsynonymous SNV	exon10	c.T1133A	p.V378D	EKKDNSQPTPDNVLSAVTPELINLA	EKKDNSQPTPDNDLSAVTPELINLA	1.0	6.0	unscreened	-	4317_X:134990314-134990314 T>A_EKKDNSQPTPDNDLSAVTPELINLA
7:72858409-72858409 C>T	1.0	4317	RECTAL	-	-	-	-	BAZ1B	uc003tyc.3,p.A1299T|ENST00000404251,p.A1299T|NM_032408,p.A1299T|ENST00000339594,p.A1299T	retained_intron, protein_coding	uc003tyc.3	nonsynonymous SNV	exon17	c.G3895A	p.A1299T	TIRGKHSVIPPAARSGRRPGKKPHS	TIRGKHSVIPPATRSGRRPGKKPHS	8.0	5.0	-	-	4317_7:72858409-72858409 C>T_TIRGKHSVIPPATRSGRRPGKKPHS
2:212293206-212293206 C>A	0.0	4317	RECTAL	-	-	-	1	ERBB4	uc002veh.1,p.M882I|uc010zjj.1,p.M872I|uc010zji.1,p.M872I|ENST00000436443,p.M882I|ENST00000342788,p.M882I|uc002veg.1,p.M882I|NM_005235,p.M882I|NM_001042599,p.M882I|ENST00000402597,p.M872I	retained_intron, protein_coding, processed_transcript	uc010zjj.1	nonsynonymous SNV	exon22	c.G2616T	p.M872I	GDEKEYNADGGKMPIKWMALECIHY	GDEKEYNADGGKIPIKWMALECIHY	4.0	6.0	unscreened	-	4317_2:212293206-212293206 C>A_GDEKEYNADGGKIPIKWMALECIHY
13:100622667-100622667 ->GGC	0.0	4317	RECTAL	-	-	-	-	ZIC5	NM_033132,p.P421delinsPP|ENST00000267294,p.P421delinsPP|uc001vom.1,p.P421delinsPP	protein_coding	uc001vom.1	nonframeshift insertion	exon1	c.1262_1263insGCC	p.P421delinsPP	LPPPPPPPPPPPPPPPAGGAKPCSK	LPPPPPPPPPPPPPPPPAGGAKPCS	4.0	8.0	unscreened	-	4317_13:100622667-100622667 ->GGC_LPPPPPPPPPPPPPPPPAGGAKPCS
X:148038085-148038085 G>A	0.0	4317	RECTAL	-	-	ID=COSM3233729,COSM3233730,COSM3233731;OCCURENCE=1(ovary)	-	AFF2	ENST00000286437,p.R478H|ENST00000370460,p.R837H|uc011mxb.2,p.R802H|NM_001169123,p.R827H|uc004fcp.3,p.R837H|NM_001169124,p.R802H|NM_002025,p.R837H|NM_001169125,p.R798H|uc004fcs.3,p.R804H|uc004fcr.3,p.R798H|NM_001169122,p.R804H|ENST00000370457,p.R804H|uc004fcq.3,p.R827H|NM_001170628,p.R478H|uc011mxc.2,p.R478H|ENST00000342251,p.R804H	protein_coding	uc011mxc.2	nonsynonymous SNV	exon8	c.G1433A	p.R478H	KPDHKETATKPKRQTAVTAVEKPAP	KPDHKETATKPKHQTAVTAVEKPAP	3.0	6.0	unscreened	-	4317_X:148038085-148038085 G>A_KPDHKETATKPKHQTAVTAVEKPAP
X:70360609-70360609 C>G	1.0	4317	RECTAL	-	-	-	1	MED12	ENST00000439750,p.Q805E|uc004dza.3,p.Q1907E|NM_005120,p.Q2057E|ENST00000430072,p.Q2007E|uc004dyy.3,p.Q2057E|ENST00000333646,p.Q2060E|ENST00000374102,p.Q2056E|uc004dyz.3,p.Q2056E|ENST00000374080,p.Q2057E|uc010nla.3,p.Q686E	protein_coding, processed_transcript	uc010nla.3	nonsynonymous SNV	exon16	c.C2056G	p.Q686E	TAILPEQQQQQQQQQQQQQQQQQQQ	TAILPEQQQQQQEQQQQQQQQQQQQ	10.0	6.0	unscreened	-	4317_X:70360609-70360609 C>G_TAILPEQQQQQQEQQQQQQQQQQQQ
2:31155048-31155048 C>G	0.0	4317	RECTAL	-	-	-	-	GALNT14	uc010ezp.1,p.E194Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ezp.1	nonsynonymous SNV	exon9	c.G580C	p.E194Q	PLLHRVKEKSPSECGCAGAA	PLLHRVKEKSPSQCGCAGAA	4.0	4.0	unscreened	-	4317_2:31155048-31155048 C>G_PLLHRVKEKSPSQCGCAGAA
13:36900820-36900820 T>A	0.0	4317	RECTAL	-	-	-	-	SPG20	uc010ten.2,p.S384C	protein_coding, processed_transcript	uc010ten.2	nonsynonymous SNV	exon4	c.A1150T	p.S384C	LDQGNKDAKDTSSEEVNLSHIVPCE	LDQGNKDAKDTSCEEVNLSHIVPCE	5.0	5.0	-	-	4317_13:36900820-36900820 T>A_LDQGNKDAKDTSCEEVNLSHIVPCE
19:17369031-17369031 G>T	0.0	4317	RECTAL	-	-	-	-	USHBP1	NM_031941,p.P404T|uc010xpk.1,p.P340T|uc002nfs.1,p.P404T|ENST00000252597,p.P404T|ENST00000431146,p.P340T|NM_001297703,p.P340T|uc002nfr.1,p.P30T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xpk.1	nonsynonymous SNV	exon7	c.C1018A	p.P340T	EEAAMDAGAQQNPQPSPEGSSVDKP	EEAAMDAGAQQNTQPSPEGSSVDKP	4.0	8.0	unscreened	-	4317_19:17369031-17369031 G>T_EEAAMDAGAQQNTQPSPEGSSVDKP
X:67937264-67937264 G>A	0.0	4317	RECTAL	-	-	-	-	STARD8	uc004dxc.4,p.A90T|NM_001142504,p.A90T|uc004dxa.3,p.A90T|ENST00000374599,p.A170T|uc004dxb.3,p.A170T|NM_001142503,p.A170T|NM_014725,p.A90T|ENST00000374597,p.A90T|ENST00000252336,p.A90T	protein_coding, processed_transcript, nonsense_mediated_decay	uc004dxc.4	nonsynonymous SNV	exon5	c.G268A	p.A90T	LPVITVSLPPEPADLPLPGRAPSSS	LPVITVSLPPEPTDLPLPGRAPSSS	4.0	3.0	unscreened	-	4317_X:67937264-67937264 G>A_LPVITVSLPPEPTDLPLPGRAPSSS
19:1806159-1806159 C>G	0.0	4317	RECTAL	-	-	-	-	ATP8B3	NM_001178002,p.Q176H|ENST00000526092,p.Q176H|ENST00000525591,p.Q176H|uc002ltv.4,p.Q176H|ENST00000310127,p.Q229H|uc002ltw.4,p.Q229H|NM_138813,p.Q229H|uc002ltz.2,p.Q176H|ENST00000539485,p.Q229H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ltz.2	nonsynonymous SNV	exon8	c.G528C	p.Q176H	RPCQILMGKSFKQKKWQDLCVGDVV	RPCQILMGKSFKHKKWQDLCVGDVV	4.0	6.0	unscreened	-	4317_19:1806159-1806159 C>G_RPCQILMGKSFKHKKWQDLCVGDVV
4:100503137-100503137 G>A	0.0	4317	RECTAL	-	-	-	-	MTTP	uc003hvb.3,p.R46Q|uc003hvc.4,p.R46Q|uc011cej.2,p.R73Q|ENST00000506883,p.R56Q|NM_000253,p.R46Q|NM_001300785,p.R73Q|ENST00000457717,p.R46Q|ENST00000422897,p.R46Q|ENST00000265517,p.R46Q|ENST00000511045,p.R73Q	protein_coding, nonsense_mediated_decay	uc011cej.2	nonsynonymous SNV	exon2	c.G218A	p.R73Q	YKLTYSTEVLLDRGKGKLQDSVGYR	YKLTYSTEVLLDQGKGKLQDSVGYR	3.0	5.0	unscreened	-	4317_4:100503137-100503137 G>A_YKLTYSTEVLLDQGKGKLQDSVGYR
12:11420941-11420941 G>C	1.0	4317	RECTAL	-	-	ID=COSM1242709,COSM1242708;OCCURENCE=1(oesophagus)	-	PRB3	NM_006249,p.P81R|ENST00000381842,p.P81R|uc001qzs.3,p.P81R|ENST00000538488,p.P81R	retained_intron, protein_coding, processed_transcript, polymorphic_pseudogene	uc001qzs.3	nonsynonymous SNV	exon3	c.C242G	p.P81R	QGPPPRPGKPEGPPPQGGNQSQGPP	QGPPPRPGKPEGRPPQGGNQSQGPP	2.0	3.0	-	-	4317_12:11420941-11420941 G>C_QGPPPRPGKPEGRPPQGGNQSQGPP
X:55033431-55033431 G>C	0.0	4317	RECTAL	-	-	-	-	APEX2	NM_014481,p.V374L|ENST00000374987,p.V374L|NM_001271748,p.V203L|uc004dtz.4,p.V374L|uc011mom.3,p.V203L	protein_coding, processed_transcript	uc011mom.3	nonsynonymous SNV	exon5	c.G607C	p.V203L	QTRVQTCQNKAQVRSTRPQPSQVGS	QTRVQTCQNKAQLRSTRPQPSQVGS	6.0	4.0	-	-	4317_X:55033431-55033431 G>C_QTRVQTCQNKAQLRSTRPQPSQVGS
17:79219367-79219391 CTGGAGGCCCAGGCGCCTGTCTAAG>-	0.0	4317	RECTAL	-	-	-	-	SLC38A10	uc002jzz.1,p.L1109fs|uc002jzy.1,p.L1027fs|uc021uey.1,p.L184fs|ENST00000374759,p.L1109fs|uc031reu.1,p.L184fs|NM_001037984,p.L1109fs	retained_intron, protein_coding, processed_transcript	uc031reu.1	frameshift deletion	exon2	c.550_574del	p.L184fs	AGGALQVVHSRQLRQAPGPPEES	AGGALQVVHSRQRSP	9.0	6.0	unscreened	-	4317_17:79219367-79219391 CTGGAGGCCCAGGCGCCTGTCTAAG>-_AGGALQVVHSRQRSP
1:217793187-217793187 C>G	1.0	4317	RECTAL	-	-	-	-	GPATCH2	uc001hlf.1,p.Q237H|ENST00000366934,p.Q237H|ENST00000366935,p.Q237H|NM_001297754,p.Q237H|uc001hlg.4,p.Q237H|NM_018040,p.Q237H	protein_coding, processed_transcript	uc001hlg.4	nonsynonymous SNV	exon2	c.G711C	p.Q237H	DEGVVLESEETNQTNKDKMECEEQK	DEGVVLESEETNHTNKDKMECEEQK	6.0	4.0	unscreened	-	4317_1:217793187-217793187 C>G_DEGVVLESEETNHTNKDKMECEEQK
1:217793189-217793189 G>T	1.0	4317	RECTAL	-	-	-	-	GPATCH2	ENST00000366934,p.Q237K|uc001hlf.1,p.Q237K|NM_001297754,p.Q237K|uc001hlg.4,p.Q237K|NM_018040,p.Q237K|ENST00000366935,p.Q237K	protein_coding, processed_transcript	uc001hlg.4	nonsynonymous SNV	exon2	c.C709A	p.Q237K	DEGVVLESEETNQTNKDKMECEEQK	DEGVVLESEETNKTNKDKMECEEQK	6.0	4.0	unscreened	-	4317_1:217793189-217793189 G>T_DEGVVLESEETNKTNKDKMECEEQK
19:55873962-55873962 C>T	0.0	4317	RECTAL	-	-	-	-	FAM71E2	NM_001145402,p.G97S|uc002qkr.2,p.G97S|uc002qkq.3,p.G29S|ENST00000424985,p.G97S	protein_coding, nonsense_mediated_decay	uc002qkr.2	nonsynonymous SNV	exon2	c.G289A	p.G97S	LIGQPAEDRDCSGLVLTRMIPLDLV	LIGQPAEDRDCSSLVLTRMIPLDLV	1.0	4.0	unscreened	-	4317_19:55873962-55873962 C>T_LIGQPAEDRDCSSLVLTRMIPLDLV
4:46053478-46053478 G>A	0.0	4317	RECTAL	-	-	-	-	GABRG1	uc003gxb.3,p.T365I|NM_173536,p.T365I|ENST00000295452,p.T365I	protein_coding	uc003gxb.3	nonsynonymous SNV	exon8	c.C1094T	p.T365I	TLHYFTSNQKGKTATKDRKLKNKAS	TLHYFTSNQKGKIATKDRKLKNKAS	1.0	4.0	unscreened	-	4317_4:46053478-46053478 G>A_TLHYFTSNQKGKIATKDRKLKNKAS
1:190067556-190067556 A>T	0.0	4317	RECTAL	-	-	-	-	BRINP3	ENST00000534846,p.S529R|NM_199051,p.S631R|uc001gse.1,p.S631R|uc010pot.1,p.S529R|ENST00000367462,p.S631R	protein_coding, processed_transcript	uc010pot.1	nonsynonymous SNV	exon7	c.T1587A	p.S529R	KTFFETVHIYLRSRIKSNGPNGNES	KTFFETVHIYLRRRIKSNGPNGNES	1.0	5.0	unscreened	-	4317_1:190067556-190067556 A>T_KTFFETVHIYLRRRIKSNGPNGNES
4:41263893-41263893 G>A	0.0	4317	RECTAL	-	-	-	-	UCHL1	uc003gvp.3,p.A57T|uc003gvo.3,p.A138T|ENST00000505232,p.A138T|ENST00000284440,p.A138T|ENST00000503431,p.A138T|ENST00000512788,p.A138T|NM_004181,p.A138T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gvp.3	nonsynonymous SNV	exon5	c.G169A	p.A57T	PEDRAKCFEKNEAIQAAHDAVAQEG	PEDRAKCFEKNETIQAAHDAVAQEG	3.0	7.0	-	-	4317_4:41263893-41263893 G>A_PEDRAKCFEKNETIQAAHDAVAQEG
17:45925697-45925697 C>A	0.0	4317	RECTAL	-	-	-	-	SP6	ENST00000536300,p.Q33H|NM_001258248,p.Q33H|uc021tzc.1,p.Q33H|uc002imh.1,p.Q33H|ENST00000342234,p.Q33H|uc002img.2,p.Q33H|NM_199262,p.Q33H	protein_coding	uc021tzc.1	nonsynonymous SNV	exon1	c.G99T	p.Q33H	PPRLDLQPLQTYQGHTSPEAGDYPS	PPRLDLQPLQTYHGHTSPEAGDYPS	4.0	4.0	unscreened	-	4317_17:45925697-45925697 C>A_PPRLDLQPLQTYHGHTSPEAGDYPS
19:15465992-15465992 C>T	1.0	4317	RECTAL	-	-	-	-	AKAP8	ENST00000269701,p.E605K|NM_005858,p.E605K|uc002nav.3,p.E605K|uc010dzy.3,p.E154K	retained_intron, protein_coding, nonsense_mediated_decay	uc010dzy.3	nonsynonymous SNV	exon11	c.G460A	p.E154K	GAPAPESSGEPAEDEGPTDTAEAGS	GAPAPESSGEPAKDEGPTDTAEAGS	8.0	5.0	-	-	4317_19:15465992-15465992 C>T_GAPAPESSGEPAKDEGPTDTAEAGS
13:37598227-37598228 GA>-	1.0	4317	RECTAL	-	-	-	-	SUPT20H	ENST00000464744,p.L513fs|ENST00000542180,p.L476fs|uc010abt.3,p.L513fs|NM_001278482,p.L513fs|ENST00000495071,p.L476fs|NM_001278480,p.L512fs|uc001uwl.1,p.L512fs|uc010tes.1,p.L476fs|NM_001278481,p.L513fs|ENST00000475892,p.L512fs|uc001uwf.3,p.L90fs|ENST00000356185,p.L513fs|ENST00000350612,p.L512fs|uc001uwg.3,p.L512fs|NM_001014286,p.L512fs|NM_017569,p.L513fs|uc001uwh.3,p.L513fs|uc001uwi.3,p.L512fs|ENST00000490716,p.L500fs|ENST00000360252,p.L513fs|uc001uwk.3,p.L512fs|uc001uwj.3,p.L513fs	retained_intron, protein_coding, processed_transcript	uc010tes.1	frameshift deletion	exon17	c.1427_1428del	p.L476fs	KPSSIPRKSSVDLNQVSMLSPAALS	KPSSIPRKSSVDQSS	10.0	3.0	-	-	4317_13:37598227-37598228 GA>-_KPSSIPRKSSVDQSS
15:65943118-65943118 G>C	0.0	4317	RECTAL	-	-	-	-	SLC24A1	ENST00000339868,p.E859D|uc010ujd.1,p.E859D|uc010ujg.2,p.E877D|NM_001254740,p.E204D|uc010uje.1,p.E859D|uc010uji.2,p.E204D|NM_004727,p.E877D|NM_001301033,p.E859D|NM_001301031,p.E877D|NM_001301032,p.E859D|ENST00000546330,p.E859D|ENST00000544319,p.E763D|uc010ujh.2,p.E859D|ENST00000537259,p.E859D|uc010ujf.2,p.E877D|ENST00000261892,p.E877D|ENST00000399033,p.E877D	retained_intron, protein_coding, processed_transcript	uc010uji.2	nonsynonymous SNV	exon4	c.G612C	p.E204D	EEEEQEEEEEEEEQEEEEEEEEEEE	EEEEQEEEEEEEDQEEEEEEEEEEE	9.0	5.0	unscreened	-	4317_15:65943118-65943118 G>C_EEEEQEEEEEEEDQEEEEEEEEEEE
12:53170969-53170969 G>C	0.0	4317	RECTAL	-	-	-	-	KRT76	uc001sax.3,p.S36C|ENST00000332411,p.S36C|NM_015848,p.S36C	protein_coding	uc001sax.3	nonsynonymous SNV	exon1	c.C107G	p.S36C	VSGSSRMSCVARSGGAGGGACGFRS	VSGSSRMSCVARCGGAGGGACGFRS	1.0	7.0	unscreened	-	4317_12:53170969-53170969 G>C_VSGSSRMSCVARCGGAGGGACGFRS
19:35775926-35775926 G>A	0.0	4317	RECTAL	-	-	-	-	HAMP	ENST00000598398,p.G79E|uc002nyw.3,p.G79E|NM_021175,p.G79E|ENST00000222304,p.G79E	retained_intron, protein_coding	uc002nyw.3	nonsynonymous SNV	exon3	c.G236A	p.G79E	IFCCGCCHRSKCGMCCKT	IFCCGCCHRSKCEMCCKT	5.0	4.0	-	-	4317_19:35775926-35775926 G>A_IFCCGCCHRSKCEMCCKT
7:100637905-100637905 C>A	1.0	4317	RECTAL	-	-	-	-	MUC12	ENST00000379442,p.T1497K|NM_001164462,p.T1354K|uc003uxo.3,p.T1354K|ENST00000536621,p.T1354K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.C4061A	p.T1354K	DSTTTSDLSQEPTTSHSSQGSTEAT	DSTTTSDLSQEPKTSHSSQGSTEAT	1.0	7.0	-	-	4317_7:100637905-100637905 C>A_DSTTTSDLSQEPKTSHSSQGSTEAT
3:107096437-107096437 G>A	0.0	4317	RECTAL	-	-	-	-	CCDC54	ENST00000261058,p.M1I|NM_032600,p.M1I|uc003dwi.1,p.M1I	protein_coding	uc003dwi.1	nonsynonymous SNV	exon1	c.G3A	p.M1I	MYTLHTKRVKAAA	IYTLHTKRVKAAA	1.0	5.0	unscreened	-	4317_3:107096437-107096437 G>A_IYTLHTKRVKAAA
X:70360622-70360622 A>C	1.0	4317	RECTAL	-	-	-	1	MED12	uc010nla.3,p.Q690P|ENST00000333646,p.Q2064P|ENST00000439750,p.Q809P|uc004dyz.3,p.Q2060P|uc004dyy.3,p.Q2061P|ENST00000374080,p.Q2061P|uc004dza.3,p.Q1911P|ENST00000374102,p.Q2060P|ENST00000430072,p.Q2011P|NM_005120,p.Q2061P	protein_coding, processed_transcript	uc010nla.3	nonsynonymous SNV	exon16	c.A2069C	p.Q690P	PEQQQQQQQQQQQQQQQQQQQQQQQ	PEQQQQQQQQQQPQQQQQQQQQQQQ	10.0	6.0	unscreened	-	4317_X:70360622-70360622 A>C_PEQQQQQQQQQQPQQQQQQQQQQQQ
1:152573436-152573436 A>C	0.0	4317	RECTAL	-	-	-	-	LCE3C	NM_178434,p.S77R|ENST00000333881,p.S77R|uc001fac.2,p.S77R	protein_coding	uc001fac.2	nonsynonymous SNV	exon1	c.A229C	p.S77R	CRRQRSNSCDRGSGQQGGGSCRGHG	CRRQRSNSCDRGRGQQGGGSCRGHG	1.0	4.0	unscreened	-	4317_1:152573436-152573436 A>C_CRRQRSNSCDRGRGQQGGGSCRGHG
19:11546590-11546590 C>G	0.0	4317	RECTAL	-	-	-	-	CCDC151	ENST00000545100,p.M1I	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000545100	nonsynonymous SNV	exon1	c.G3C	p.M1I	MHPPVAPCKKLRC	IHPPVAPCKKLRC	3.0	6.0	unscreened	-	4317_19:11546590-11546590 C>G_IHPPVAPCKKLRC
11:67816589-67816589 C>T	1.0	4320	COLON	0.0018	-	-	-	TCIRG1	uc001ong.3,p.P356L|NM_006019,p.P572L|NM_006053,p.P356L|ENST00000532635,p.P356L|uc001one.3,p.P572L|ENST00000265686,p.P572L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ong.3	nonsynonymous SNV	exon10	c.C1067T	p.P356L	FGQRHRLLLETLPELTFLLGLFGYL	FGQRHRLLLETLLELTFLLGLFGYL	10.0	3.0	-	-	4320_11:67816589-67816589 C>T_FGQRHRLLLETLLELTFLLGLFGYL
19:40883777-40883777 C>T	1.0	4320	COLON	-	-	ID=COSM1681034,COSM1681035;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)	-	PLD3	uc002onm.4,p.R424C|ENST00000409587,p.R424C|NM_012268,p.R424C|ENST00000409281,p.R424C|ENST00000409735,p.R424C|ENST00000356508,p.R424C|NM_001291311,p.R424C|uc002onj.4,p.R424C|uc002onn.3,p.R424C|NM_001031696,p.R424C|ENST00000409419,p.R424C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002onn.3	nonsynonymous SNV	exon12	c.C1270T	p.R424C	ARVNHNKYMVTERATYIGTSNWSGN	ARVNHNKYMVTECATYIGTSNWSGN	10.0	9.0	-	-	4320_19:40883777-40883777 C>T_ARVNHNKYMVTECATYIGTSNWSGN
1:183072496-183072496 A>C	1.0	4320	COLON	-	-	-	-	LAMC1	uc001gpy.4,p.K151T|ENST00000258341,p.K151T|uc001gpx.3,p.K151T|NM_002293,p.K151T	protein_coding, processed_transcript	uc001gpy.4	nonsynonymous SNV	exon2	c.A452C	p.K151T	LGKAFDITYVRLKFHTSRPESFAIY	LGKAFDITYVRLTFHTSRPESFAIY	10.0	3.0	-	-	4320_1:183072496-183072496 A>C_LGKAFDITYVRLTFHTSRPESFAIY
17:7577568-7577568 C>T	1.0	4320	COLON	-	-	ID=COSM3388191,COSM1649400,COSM179812,COSM179813,COSM11059,COSM179811;OCCURENCE=2(endometrium),5(soft_tissue),5(ovary),9(large_intestine),7(pancreas),1(skin),12(breast),7(oesophagus),1(bone),1(upper_aerodigestive_tract),1(stomach),4(central_nervous_system),8(haematopoietic_and_lymphoid_tissue),2(lung)	1	TP53	ENST00000359597,p.C238Y|uc002gin.3,p.C145Y|uc002gij.3,p.C199Y|NM_001126112,p.C238Y|NM_001126113,p.C238Y|uc002gio.3,p.C106Y|uc010cnf.2,p.C79Y|NM_000546,p.C238Y|NM_001276699,p.C79Y|uc031qyq.1,p.C199Y|NM_001126114,p.C238Y|uc002gii.2,p.C79Y|NM_001126118,p.C199Y|NM_001126116,p.C106Y|ENST00000509690,p.C106Y|ENST00000420246,p.C238Y|ENST00000269305,p.C238Y|ENST00000413465,p.C238Y|NM_001276696,p.C199Y|NM_001126115,p.C106Y|NM_001276761,p.C199Y|NM_001276760,p.C199Y|NM_001276697,p.C79Y|NM_001276698,p.C79Y|uc010cng.2,p.C79Y|uc002gig.1,p.C238Y|ENST00000455263,p.C238Y|ENST00000445888,p.C238Y|uc002gih.3,p.C238Y|NM_001276695,p.C199Y|NM_001126117,p.C106Y	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon6	c.G596A	p.C199Y	GSDCTTIHYNYMCNSSCMGGMNRRP	GSDCTTIHYNYMYNSSCMGGMNRRP	10.0	10.0	-	-	4320_17:7577568-7577568 C>T_GSDCTTIHYNYMYNSSCMGGMNRRP
16:449113-449113 A>T	1.0	4320	COLON	-	-	-	-	NME4	NM_001286433,p.K72M	retained_intron, protein_coding, nonsense_mediated_decay	NM_001286433	nonsynonymous SNV	exon2	c.A215T	p.K72M	RFERRGFTLVGMKMLQVWEGYNVVR	RFERRGFTLVGMMMLQVWEGYNVVR	8.0	10.0	-	-	4320_16:449113-449113 A>T_RFERRGFTLVGMMMLQVWEGYNVVR
16:449113-449113 A>T	1.0	4320	COLON	-	-	-	-	NME4	NM_001286435,p.K72M|uc002cgz.3,p.K72M|ENST00000444498,p.K72M|ENST00000382940,p.K80M|ENST00000219479,p.K72M|NM_005009,p.K72M	retained_intron, protein_coding, nonsense_mediated_decay	uc002cgz.3	nonsynonymous SNV	exon2	c.A215T	p.K72M	RFERRGFTLVGMKMLQAPESVLAEH	RFERRGFTLVGMMMLQAPESVLAEH	8.0	10.0	-	-	4320_16:449113-449113 A>T_RFERRGFTLVGMMMLQAPESVLAEH
12:75902128-75902128 T>G	1.0	4320	COLON	-	-	-	-	KRR1	NM_007043,p.T62P|ENST00000229214,p.T62P|uc001sxt.3,p.T62P|uc010stx.2,p.T62P|ENST00000438169,p.T62P|uc009zsc.3,p.T62P	retained_intron, protein_coding	uc010stx.2	nonsynonymous SNV	exon2	c.A184C	p.T62P	NPRGLLEESSFATLFPKYREAYLKE	NPRGLLEESSFAPLFPKYREAYLKE	9.0	1.0	-	-	4320_12:75902128-75902128 T>G_NPRGLLEESSFAPLFPKYREAYLKE
16:48292563-48292563 A>C	1.0	4320	COLON	-	-	-	-	LONP2	uc002efj.1,p.K168T|ENST00000285737,p.K212T|NM_001300948,p.K168T|NM_031490,p.K212T|uc002efi.1,p.K212T|ENST00000566755,p.K212T|ENST00000416006,p.K168T|ENST00000535754,p.K168T	protein_coding, processed_transcript, nonsense_mediated_decay	uc002efj.1	nonsynonymous SNV	exon3	c.A503C	p.K168T	QILDAVSLEERFKMTIPLLVRQIEG	QILDAVSLEERFTMTIPLLVRQIEG	9.0	5.0	-	-	4320_16:48292563-48292563 A>C_QILDAVSLEERFTMTIPLLVRQIEG
4:884363-884363 C>-	1.0	4320	COLON	-	-	-	-	GAK	NM_005255,p.G346fs|uc003gbn.4,p.G267fs|ENST00000314167,p.G346fs|uc003gbl.4,p.G210fs|ENST00000511163,p.G267fs|uc010ibk.1,p.G240fs|uc003gbm.4,p.G346fs|NM_001286833,p.G248fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ibk.1	frameshift deletion	exon7	c.720delG	p.G240fs	QNGGYGSATLSRGPPPPVGPAGSGY	QNGGYGSATLSRGHPLPWAPLAVATVEAWRWRSTTSRMAASWTFCGVGQSGSSPTSRTPPPRSSSPSLIMQRVTWTYLTSHPELQ	9.0	4.0	-	-	4320_4:884363-884363 C>-_QNGGYGSATLSRGHPLPWAPLAVATVEAWRWRSTTSRMAASWTFCGVGQSGSSPTSRTPPPRSSSPSLIMQRVTWTYLTSHPELQ
19:40541834-40541834 T>G	1.0	4320	COLON	-	-	-	-	ZNF780B	uc002omu.3,p.E311A|ENST00000221355,p.E163A|uc002omv.3,p.E163A|ENST00000434248,p.E311A|NM_001005851,p.E311A	retained_intron, protein_coding, non_stop_decay	uc002omv.3	nonsynonymous SNV	exon6	c.A488C	p.E163A	HSNEKPFVCRECEMAFRYHYQLIEH	HSNEKPFVCRECAMAFRYHYQLIEH	9.0	5.0	-	-	4320_19:40541834-40541834 T>G_HSNEKPFVCRECAMAFRYHYQLIEH
12:62931482-62931482 T>G	1.0	4320	COLON	-	-	-	-	MON2	ENST00000552738,p.L682R|ENST00000393629,p.L705R|uc010ssn.2,p.L705R|NM_001278471,p.L682R|ENST00000393632,p.L705R|NM_001278472,p.L633R|ENST00000552115,p.L705R|uc010ssm.2,p.L682R|NM_015026,p.L705R|NM_001278469,p.L705R|ENST00000546600,p.L705R|uc009zqj.3,p.L705R|uc010ssl.2,p.L633R|NM_001278470,p.L705R|ENST00000393630,p.L705R|ENST00000280379,p.L705R|uc001sre.3,p.L705R|uc001srf.3,p.L468R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ssn.2	nonsynonymous SNV	exon16	c.T2114G	p.L705R	VLGTSWQLVLATLQHLVWILGLKPS	VLGTSWQLVLATRQHLVWILGLKPS	8.0	5.0	-	-	4320_12:62931482-62931482 T>G_VLGTSWQLVLATRQHLVWILGLKPS
7:74564379-74564379 C>T	1.0	4320	COLON	-	-	-	-	GTF2IRD2,GTF2IRD2B	NM_173537,p.T709M|NM_001003795,p.T709M|ENST00000418185,p.T256M|uc003ubu.3,p.T539M|ENST00000312575,p.T709M|uc003ubt.3,p.T709M|uc010lcd.3,p.T462M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010lcd.3	nonsynonymous SNV	exon15	c.C1385T	p.T462M	ELDSQYGSLLYYTEIKWLSRGLVLK	ELDSQYGSLLYYMEIKWLSRGLVLK	10.0	9.0	-	-	4320_7:74564379-74564379 C>T_ELDSQYGSLLYYMEIKWLSRGLVLK
22:50869632-50869632 T>G	1.0	4320	COLON	-	-	-	-	PPP6R2	NM_001242898,p.F386V|NM_014678,p.F386V|ENST00000216061,p.F386V|NM_001242899,p.F387V|uc003bky.2,p.F386V|NM_001242900,p.F386V|ENST00000395744,p.F386V|ENST00000359139,p.F386V|uc003bkz.2,p.F386V|ENST00000395741,p.F387V|uc003blb.2,p.F386V|uc003blc.3,p.F386V|uc003bla.2,p.F387V	protein_coding, processed_transcript, nonsense_mediated_decay	uc003blc.3	nonsynonymous SNV	exon11	c.T1156G	p.F386V	LLDLFFKYTWNNFLHFQVELCIAAI	LLDLFFKYTWNNVLHFQVELCIAAI	8.0	9.0	-	-	4320_22:50869632-50869632 T>G_LLDLFFKYTWNNVLHFQVELCIAAI
1:111494821-111494821 C>T	1.0	4320	COLON	-	-	ID=COSM4004690;OCCURENCE=1(ovary)	-	LRIF1	ENST00000369763,p.V229I|uc001eaa.3,p.V229I|NM_018372,p.V229I	protein_coding	uc001eaa.3	nonsynonymous SNV	exon2	c.G685A	p.V229I	TSGMVEASQMPTVIYVSPVNTVKNV	TSGMVEASQMPTIIYVSPVNTVKNV	6.0	10.0	-	-	4320_1:111494821-111494821 C>T_TSGMVEASQMPTIIYVSPVNTVKNV
2:162251681-162251681 A>C	1.0	4320	COLON	-	-	-	-	PSMD14	uc002ubu.3,p.K246N|ENST00000409682,p.K246N|NM_005805,p.K246N	retained_intron, protein_coding	uc002ubu.3	nonsynonymous SNV	exon10	c.A738C	p.K246N	YSEHCKHNESVVKEMLELAKNYNKA	YSEHCKHNESVVNEMLELAKNYNKA	9.0	1.0	-	-	4320_2:162251681-162251681 A>C_YSEHCKHNESVVNEMLELAKNYNKA
11:6415602-6415602 C>T	1.0	4320	COLON	-	-	-	-	SMPD1	ENST00000299397,p.A510V|uc001mcw.3,p.A554V|NM_001007593,p.A553V|uc009yew.3,p.A553V|NM_000543,p.A554V|ENST00000527275,p.A553V|ENST00000356761,p.A498V|ENST00000342245,p.A554V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009yew.3	nonsynonymous SNV	exon6	c.C1658T	p.A553V	RETYGLPNTLPTAWHNLVYRMRGDM	RETYGLPNTLPTVWHNLVYRMRGDM	6.0	9.0	-	-	4320_11:6415602-6415602 C>T_RETYGLPNTLPTVWHNLVYRMRGDM
6:42974688-42974688 A>C	1.0	4320	COLON	-	-	-	-	PPP2R5D	ENST00000461010,p.K15T|NM_180977,p.K15T|uc010jyd.4,p.K15T	retained_intron, protein_coding, nonsense_mediated_decay	uc010jyd.4	nonsynonymous SNV	exon2	c.A44C	p.K15T	YKLKKEKELFIQKLRQCCVLFDFVS	YKLKKEKELFIQTLRQCCVLFDFVS	9.0	3.0	-	-	4320_6:42974688-42974688 A>C_YKLKKEKELFIQTLRQCCVLFDFVS
1:111737203-111737203 A>G	1.0	4320	COLON	-	-	-	-	DENND2D	NM_024901,p.L264P|ENST00000357640,p.L264P|NM_001271833,p.L261P|uc001eal.2,p.L261P|ENST00000369752,p.L261P|uc001eak.2,p.L264P	protein_coding, processed_transcript	uc001eal.2	nonsynonymous SNV	exon7	c.T782C	p.L261P	VLERKIIFLAEGLSTLSQCIHAAAA	VLERKIIFLAEGPSTLSQCIHAAAA	7.0	6.0	CD8	-	4320_1:111737203-111737203 A>G_VLERKIIFLAEGPSTLSQCIHAAAA
6:42974688-42974688 A>C	1.0	4320	COLON	-	-	-	-	PPP2R5D	ENST00000472118,p.K113T|NM_006245,p.K121T|uc003oth.4,p.K121T|ENST00000485511,p.K121T	retained_intron, protein_coding, nonsense_mediated_decay	uc003oth.4	nonsynonymous SNV	exon4	c.A362C	p.K121T	SPTQEREELFIQKLRQCCVLFDFVS	SPTQEREELFIQTLRQCCVLFDFVS	9.0	3.0	-	-	4320_6:42974688-42974688 A>C_SPTQEREELFIQTLRQCCVLFDFVS
17:62121530-62121530 C>T	1.0	4320	COLON	-	-	-	-	ERN1	uc002jdz.2,p.V918M|ENST00000433197,p.V918M|NM_001433,p.V918M	retained_intron, protein_coding, processed_transcript	uc002jdz.2	nonsynonymous SNV	exon22	c.G2752A	p.V918M	NKKHHYRELPAEVRETLGSLPDDFV	NKKHHYRELPAEMRETLGSLPDDFV	7.0	9.0	-	-	4320_17:62121530-62121530 C>T_NKKHHYRELPAEMRETLGSLPDDFV
10:50669547-50669547 A>C	1.0	4320	COLON	-	-	-	-	ERCC6	uc009xod.4,p.D438E|uc001jhs.5,p.D1278E|uc001jhr.5,p.D646E|uc010qgr.3,p.D648E|ENST00000542458,p.D648E|ENST00000355832,p.D1278E|NM_000124,p.D1278E	protein_coding, processed_transcript	uc010qgr.3	nonsynonymous SNV	exon13	c.T1944G	p.D648E	MKHDAIMDGASPDYVLVEAEANRVA	MKHDAIMDGASPEYVLVEAEANRVA	8.0	5.0	-	-	4320_10:50669547-50669547 A>C_MKHDAIMDGASPEYVLVEAEANRVA
19:16677453-16677453 G>A	1.0	4320	COLON	-	-	ID=COSM181840;OCCURENCE=1(large_intestine)	-	SLC35E1	ENST00000436553,p.R150W	 protein_coding,retained_intron, nonsense_mediated_decay, processed_transcript	ENST00000436553	nonsynonymous SNV	exon3	c.C448T	p.R150W	KEKQSTKVLRDSRIHHLRLLNILGC	KEKQSTKVLRDSWIHHLRLLNILGC	9.0	10.0	unscreened	-	4320_19:16677453-16677453 G>A_KEKQSTKVLRDSWIHHLRLLNILGC
9:27556703-27556703 T>G	1.0	4320	COLON	-	-	-	-	C9orf72	NM_018325,p.K316T|NM_001256054,p.K316T|uc022bfa.2,p.K316T|ENST00000380003,p.K316T|uc003zqq.3,p.K316T	protein_coding, processed_transcript	uc022bfa.2	nonsynonymous SNV	exon8	c.A947C	p.K316T	PTTHIDVDVNTVKQMPPCHEHIYNQ	PTTHIDVDVNTVTQMPPCHEHIYNQ	7.0	4.0	-	-	4320_9:27556703-27556703 T>G_PTTHIDVDVNTVTQMPPCHEHIYNQ
3:88202464-88202464 A>C	1.0	4320	COLON	-	-	-	-	C3orf38	ENST00000486971,p.K73T|uc003dqw.3,p.K73T|NM_173824,p.K73T|ENST00000318887,p.K73T	protein_coding, processed_transcript	uc003dqw.3	nonsynonymous SNV	exon2	c.A218C	p.K73T	LRRRKVHREVIFKYLATQGIVIPPA	LRRRKVHREVIFTYLATQGIVIPPA	7.0	2.0	-	-	4320_3:88202464-88202464 A>C_LRRRKVHREVIFTYLATQGIVIPPA
7:1589772-1589772 C>T	1.0	4320	COLON	-	-	-	-	TMEM184A	ENST00000319010,p.R180H|ENST00000297477,p.R180H|NM_001097620,p.R180H|uc003skv.4,p.R180H	retained_intron, protein_coding, nonsense_mediated_decay	uc003skv.4	nonsynonymous SNV	exon5	c.G539A	p.R180H	CLRGMTYSIGFLRFCKQATLQFCLV	CLRGMTYSIGFLHFCKQATLQFCLV	7.0	10.0	-	-	4320_7:1589772-1589772 C>T_CLRGMTYSIGFLHFCKQATLQFCLV
19:16677453-16677453 G>A	1.0	4320	COLON	-	-	ID=COSM181840;OCCURENCE=1(large_intestine)	-	SLC35E1	ENST00000595753,p.R216W|NM_024881,p.R216W|uc002nem.1,p.R216W|ENST00000431408,p.R60W|uc010xph.2,p.R216W	 protein_coding,retained_intron, nonsense_mediated_decay, processed_transcript	uc010xph.2	nonsynonymous SNV	exon4	c.C646T	p.R216W	QNIFSKKVLRDSRIHHLRLLNILGC	QNIFSKKVLRDSWIHHLRLLNILGC	9.0	10.0	-	-	4320_19:16677453-16677453 G>A_QNIFSKKVLRDSWIHHLRLLNILGC
22:50192330-50192330 T>G	1.0	4320	COLON	-	-	-	-	BRD1	uc003biv.3,p.K554T|ENST00000542442,p.K247T|ENST00000342989,p.K149T|NM_014577,p.K554T|uc011arg.2,p.K608T|ENST00000457780,p.K554T|ENST00000404760,p.K554T|ENST00000216267,p.K554T|ENST00000438393,p.K186T|uc011arf.2,p.K149T|uc003biu.4,p.K554T|ENST00000404034,p.K554T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011arg.2	nonsynonymous SNV	exon5	c.A1823C	p.K608T	LRKREKLKREQVKVEQVAMELRLTP	LRKREKLKREQVTVEQVAMELRLTP	7.0	2.0	-	-	4320_22:50192330-50192330 T>G_LRKREKLKREQVTVEQVAMELRLTP
6:42974688-42974688 A>C	1.0	4320	COLON	-	-	-	-	PPP2R5D	NM_180976,p.K89T|ENST00000394110,p.K89T|uc021yzq.2,p.K89T	retained_intron, protein_coding, nonsense_mediated_decay	uc021yzq.2	nonsynonymous SNV	exon4	c.A266C	p.K89T	GPQIVKKELFIQKLRQCCVLFDFVS	GPQIVKKELFIQTLRQCCVLFDFVS	9.0	3.0	-	-	4320_6:42974688-42974688 A>C_GPQIVKKELFIQTLRQCCVLFDFVS
16:555542-555542 C>T	1.0	4320	COLON	-	-	-	-	RAB11FIP3	NM_001142272,p.R176C|uc010uuf.2,p.R176C|ENST00000457159,p.R517C|ENST00000262305,p.R472C|ENST00000452814,p.R162C|NM_014700,p.R472C|uc002chf.3,p.R472C|uc010uug.2,p.R207C|ENST00000434585,p.R393C|ENST00000450428,p.R176C	retained_intron, protein_coding	uc010uug.2	nonsynonymous SNV	exon6	c.C619T	p.R207C	EDIADKVVFLERRVLELEKDTAATG	EDIADKVVFLERCVLELEKDTAATG	9.0	1.0	-	-	4320_16:555542-555542 C>T_EDIADKVVFLERCVLELEKDTAATG
1:158986438-158986438 C>A	1.0	4320	COLON	-	-	-	-	IFI16	ENST00000447473,p.S166Y|uc001ftf.1,p.S166Y|ENST00000368132,p.S166Y|NM_005531,p.S166Y|ENST00000368131,p.S166Y|uc010pit.2,p.S166Y|ENST00000295809,p.S166Y|uc001ftg.3,p.S166Y|ENST00000448393,p.S166Y|ENST00000340979,p.S166Y	retained_intron, protein_coding	uc010pit.2	nonsynonymous SNV	exon3	c.C497A	p.S166Y	PAGAGMSTAMGRSPSPKTSLSAPPN	PAGAGMSTAMGRYPSPKTSLSAPPN	10.0	9.0	-	-	4320_1:158986438-158986438 C>A_PAGAGMSTAMGRYPSPKTSLSAPPN
9:131088164-131088164 A>C	1.0	4320	COLON	-	-	-	-	COQ4	ENST00000372875,p.S136R|uc011max.1,p.S136R	protein_coding, processed_transcript	uc011max.1	nonsynonymous SNV	exon4	c.A406C	p.S136R	GREYLRFLDVNVSFQLLCIWQSPDR	GREYLRFLDVNVRFQLLCIWQSPDR	6.0	5.0	-	-	4320_9:131088164-131088164 A>C_GREYLRFLDVNVRFQLLCIWQSPDR
16:11065019-11065019 A>C	1.0	4320	COLON	-	-	-	-	CLEC16A	NM_001243403,p.K177T|uc021tcy.1,p.K177T|uc002dao.3,p.K177T|ENST00000409552,p.K177T|ENST00000409790,p.K177T|uc002dan.4,p.K177T|NM_015226,p.K177T	retained_intron, protein_coding, processed_transcript	uc021tcy.1	nonsynonymous SNV	exon5	c.A530C	p.K177T	HTNDFALYTEAIKFFNHPESMVRIA	HTNDFALYTEAITFFNHPESMVRIA	8.0	2.0	-	-	4320_16:11065019-11065019 A>C_HTNDFALYTEAITFFNHPESMVRIA
11:65306890-65306890 G>A	1.0	4320	COLON	-	-	-	-	LTBP3	uc010rok.1,p.A1134V	retained_intron, protein_coding, nonsense_mediated_decay	uc010rok.1	nonsynonymous SNV	exon28	c.C3401T	p.A1134V	ETVQRRIQTSVAA	ETVQRRIQTSVAV	9.0	9.0	-	-	4320_11:65306890-65306890 G>A_ETVQRRIQTSVAV
19:6444163-6444163 T>G	1.0	4320	COLON	-	-	-	-	SLC25A23	ENST00000264088,p.Q454H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000264088	nonsynonymous SNV	exon10	c.A1362C	p.Q454H	YPLALVRTRMQAQGWSTVARFQITA	YPLALVRTRMQAHGWSTVARFQITA	6.0	5.0	unscreened	-	4320_19:6444163-6444163 T>G_YPLALVRTRMQAHGWSTVARFQITA
17:15539387-15539387 C>G	1.0	4320	COLON	-	-	ID=COSM2738696;OCCURENCE=1(liver)	-	TRIM16	ENST00000578744,p.R145T|ENST00000416464,p.R141T|NM_006470,p.R271T|uc002gow.3,p.R55T|ENST00000577372,p.R55T|uc002gor.1,p.R271T|uc002goy.3,p.R141T|uc002gox.3,p.R271T|ENST00000455584,p.R271T|ENST00000336708,p.R271T|ENST00000580110,p.R55T|ENST00000579219,p.R55T|ENST00000577886,p.R55T|ENST00000577446,p.R24T|ENST00000578237,p.R271T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002goy.3	nonsynonymous SNV	exon4	c.G422C	p.R141T	SAEMEKSKQELERMAAISNTVQFLE	SAEMEKSKQELETMAAISNTVQFLE	7.0	10.0	unscreened	-	4320_17:15539387-15539387 C>G_SAEMEKSKQELETMAAISNTVQFLE
2:88890104-88890104 G>T	1.0	4320	COLON	-	-	-	-	EIF2AK3	uc002stc.4,p.S341Y|ENST00000419748,p.S190Y|ENST00000415570,p.S220Y|ENST00000303236,p.S341Y|NM_004836,p.S341Y	retained_intron, protein_coding, processed_transcript	uc002stc.4	nonsynonymous SNV	exon6	c.C1022A	p.S341Y	LEWEYQFCTPIASAWLLKDGKVIPI	LEWEYQFCTPIAYAWLLKDGKVIPI	9.0	7.0	-	-	4320_2:88890104-88890104 G>T_LEWEYQFCTPIAYAWLLKDGKVIPI
1:10207148-10207148 A>T	1.0	4320	COLON	-	-	-	-	UBE4B	uc021ogc.1,p.D915V|NM_006048,p.D735V|NM_001105562,p.D864V|ENST00000377157,p.D619V|ENST00000253251,p.D735V|uc001aqr.4,p.D735V|uc010oaj.2,p.D319V|ENST00000343090,p.D864V|uc001aqs.4,p.D864V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ogc.1	nonsynonymous SNV	exon20	c.A2744T	p.D915V	QLLLRILDPAYPDITLPLNSDVPKV	QLLLRILDPAYPVITLPLNSDVPKV	7.0	7.0	-	-	4320_1:10207148-10207148 A>T_QLLLRILDPAYPVITLPLNSDVPKV
17:7577568-7577568 C>T	1.0	4320	COLON	-	-	ID=COSM3388191,COSM1649400,COSM179812,COSM179813,COSM11059,COSM179811;OCCURENCE=2(endometrium),5(soft_tissue),5(ovary),9(large_intestine),7(pancreas),1(skin),12(breast),7(oesophagus),1(bone),1(upper_aerodigestive_tract),1(stomach),4(central_nervous_system),8(haematopoietic_and_lymphoid_tissue),2(lung)	1	TP53	uc010cnh.2,p.C238Y|uc002gim.3,p.C238Y|uc010cni.2,p.C238Y	retained_intron, protein_coding, processed_transcript	uc010cni.2	nonsynonymous SNV	exon7	c.G713A	p.C238Y	LGRNSFEVRVCACPGRDRRTEEENL	LGRNSFEVRVCAYPGRDRRTEEENL	10.0	10.0	-	-	4320_17:7577568-7577568 C>T_LGRNSFEVRVCAYPGRDRRTEEENL
1:1571704-1571704 A>C	1.0	4320	COLON	-	-	-	-	CDK11B	NM_033490,p.L469R|ENST00000341832,p.L642R|NM_033487,p.L430R|ENST00000407249,p.L689R|uc009vkj.2,p.L343R|ENST00000340677,p.L676R|uc001agz.1,p.L430R|uc001agt.1,p.L469R|uc001ags.1,p.L544R|ENST00000317673,p.L687R	protein_coding	uc009vkj.2	nonsynonymous SNV	exon9	c.T1028G	p.L343R	RFGALLSDQGFDLMNKFLTYFPGRR	RFGALLSDQGFDRMNKFLTYFPGRR	10.0	4.0	-	-	4320_1:1571704-1571704 A>C_RFGALLSDQGFDRMNKFLTYFPGRR
7:72396062-72396062 C>A	1.0	4320	COLON	-	-	-	-	POM121	ENST00000434423,p.L135I|uc003twk.2,p.L135I	protein_coding	uc003twk.2	nonsynonymous SNV	exon1	c.C403A	p.L135I	RTLLEGPDPAELLLMGSYLGKPGPP	RTLLEGPDPAELILMGSYLGKPGPP	10.0	3.0	-	-	4320_7:72396062-72396062 C>A_RTLLEGPDPAELILMGSYLGKPGPP
1:1571704-1571704 A>C	1.0	4320	COLON	-	-	-	-	CDK11B	uc001agw.1,p.L634R|uc001agx.1,p.L668R|uc001agy.1,p.L677R	protein_coding	uc001agy.1	nonsynonymous SNV	exon18	c.T2030G	p.L677R	PYNNLRKRFGALLSDQGFDLMNKFL	PYNNLRKRFGALRSDQGFDLMNKFL	10.0	4.0	-	-	4320_1:1571704-1571704 A>C_PYNNLRKRFGALRSDQGFDLMNKFL
19:44512958-44512958 A>G	0.0	4320	COLON	-	-	-	-	ZNF230	ENST00000429154,p.K11R|uc002oyb.1,p.K11R|ENST00000585568,p.K11R|ENST00000585632,p.K11R|NM_006300,p.K11R|ENST00000585491,p.K11R	retained_intron, protein_coding, nonsense_mediated_decay	uc002oyb.1	nonsynonymous SNV	exon3	c.A32G	p.K11R	MTTFKEAVTFKDVAVFFTEEELG	MTTFKEAVTFRDVAVFFTEEELG	6.0	5.0	-	-	4320_19:44512958-44512958 A>G_MTTFKEAVTFRDVAVFFTEEELG
17:78272122-78272122 T>A	1.0	4320	COLON	-	-	-	1	RNF213	NM_001256071,p.W672R|ENST00000456466,p.W672R|uc002jyg.1,p.W403R|NM_020954,p.W672R|ENST00000319921,p.W672R|ENST00000508628,p.W721R|uc021uen.2,p.W672R|uc002jyf.4,p.W672R|ENST00000582970,p.W672R	retained_intron, protein_coding, processed_transcript	uc021uen.2	nonsynonymous SNV	exon11	c.T2014A	p.W672R	RDLSHILGIPQSWRLYLVNLCQRCM	RDLSHILGIPQSRRLYLVNLCQRCM	10.0	1.0	-	-	4320_17:78272122-78272122 T>A_RDLSHILGIPQSRRLYLVNLCQRCM
8:38123784-38123784 T>G	1.0	4320	COLON	-	-	-	-	PPAPDC1B	uc003xlf.4,p.K170T|uc003xlg.4,p.K170T|ENST00000529359,p.K129T|ENST00000424479,p.K170T|NM_001102559,p.K170T|NM_032483,p.K170T|ENST00000524616,p.K151T|ENST00000422581,p.K170T|ENST00000531823,p.K38T|uc003xle.4,p.K129T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xlg.4	nonsynonymous SNV	exon6	c.A509C	p.K170T	AGLAFASFYLAGKLHCFTPQGRGKS	AGLAFASFYLAGTLHCFTPQGRGKS	7.0	2.0	-	-	4320_8:38123784-38123784 T>G_AGLAFASFYLAGTLHCFTPQGRGKS
22:30824484-30824484 A>C	1.0	4320	COLON	-	-	-	-	MTFP1	uc003ahw.2,p.K155T|ENST00000266263,p.K155T|NM_016498,p.K155T|ENST00000407550,p.K132T|ENST00000439838,p.K327T|uc003ahv.1,p.K317T	 protein_coding,retained_intron, nonsense_mediated_decay	uc003ahw.2	nonsynonymous SNV	exon4	c.A464C	p.K155T	RSVDFLLDSSLRKLYPTVGKPSSS	RSVDFLLDSSLRTLYPTVGKPSSS	6.0	4.0	-	-	4320_22:30824484-30824484 A>C_RSVDFLLDSSLRTLYPTVGKPSSS
22:24086124-24086124 G>A	1.0	4320	COLON	-	-	-	-	ZNF70	NM_021916,p.H402Y|ENST00000341976,p.H402Y|uc021wmu.1,p.H402Y|uc002zxs.3,p.H402Y	protein_coding	uc021wmu.1	nonsynonymous SNV	exon1	c.C1204T	p.H402Y	KPYTCECGKAFRHRSALIEHYKTHT	KPYTCECGKAFRYRSALIEHYKTHT	5.0	8.0	unscreened	-	4320_22:24086124-24086124 G>A_KPYTCECGKAFRYRSALIEHYKTHT
16:70548363-70548363 T>G	1.0	4320	COLON	-	-	-	-	COG4	NM_015386,p.K140T|NM_001195139,p.K140T|ENST00000564653,p.K140T|ENST00000482252,p.K136T|uc002ezc.3,p.K140T|ENST00000534772,p.K63T|ENST00000323786,p.K140T|uc002ezd.3,p.K140T|ENST00000393612,p.K136T	retained_intron, protein_coding, nonsense_mediated_decay	uc002ezd.3	nonsynonymous SNV	exon4	c.A419C	p.K140T	QAIQRADDILDLKFCMDGVQTALRS	QAIQRADDILDLTFCMDGVQTALRS	9.0	7.0	-	-	4320_16:70548363-70548363 T>G_QAIQRADDILDLTFCMDGVQTALRS
1:16261878-16261878 C>T	1.0	4320	COLON	-	-	-	1	SPEN	uc010obp.1,p.T3007M|ENST00000375759,p.T3048M|uc001axk.1,p.T3048M|NM_015001,p.T3048M	protein_coding, processed_transcript	uc010obp.1	nonsynonymous SNV	exon10	c.C9020T	p.T3007M	FPRASHPSSTASTALSTNATVMLAA	FPRASHPSSTASMALSTNATVMLAA	7.0	9.0	-	-	4320_1:16261878-16261878 C>T_FPRASHPSSTASMALSTNATVMLAA
2:109522805-109522805 T>G	1.0	4320	COLON	-	-	-	-	EDAR	uc010fjn.3,p.K360T|NM_022336,p.K328T|uc010yws.2,p.K360T|ENST00000376651,p.K360T|uc002teq.4,p.K328T|ENST00000258443,p.K328T|ENST00000409271,p.K360T	protein_coding	uc010yws.2	nonsynonymous SNV	exon10	c.A1079C	p.K360T	SNKSAGIQSRRKKILDVYANVCGVV	SNKSAGIQSRRKTILDVYANVCGVV	8.0	2.0	CD8	-	4320_2:109522805-109522805 T>G_SNKSAGIQSRRKTILDVYANVCGVV
5:178139788-178139788 T>G	1.0	4320	COLON	-	-	-	-	ZNF354A	uc003mjj.3,p.K364T|ENST00000335815,p.K364T|NM_005649,p.K364T	protein_coding, nonsense_mediated_decay	uc003mjj.3	nonsynonymous SNV	exon5	c.A1091C	p.K364T	KSYLCNECGNTFKSSSSLRYHQRIH	KSYLCNECGNTFTSSSSLRYHQRIH	7.0	4.0	-	-	4320_5:178139788-178139788 T>G_KSYLCNECGNTFTSSSSLRYHQRIH
11:6413206-6413206 T>G	1.0	4320	COLON	-	-	-	-	SMPD1	NM_001007593,p.L303R|ENST00000534405,p.L304R|uc001mcw.3,p.L304R|ENST00000530395,p.L31R|ENST00000299397,p.L304R|ENST00000533123,p.L304R|ENST00000527275,p.L303R|ENST00000356761,p.L304R|uc009yew.3,p.L303R|NM_000543,p.L304R|uc021qcz.1,p.L304R|ENST00000342245,p.L304R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qcz.1	nonsynonymous SNV	exon2	c.T911G	p.L304R	QDQLRALTTVTALVRKFLGPVPVYP	QDQLRALTTVTARVRKFLGPVPVYP	6.0	5.0	-	-	4320_11:6413206-6413206 T>G_QDQLRALTTVTARVRKFLGPVPVYP
14:78392111-78392111 T>C	1.0	4320	COLON	-	-	-	-	ADCK1	uc001xuj.3,p.L270P|uc001xui.3,p.L338P|ENST00000341211,p.L270P|uc001xul.3,p.L45P|NM_001142545,p.L270P|ENST00000238561,p.L338P|NM_020421,p.L338P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xul.3	nonsynonymous SNV	exon2	c.T134C	p.L45P	EIVLLDHGLYQMLTEEFRLNYCHLW	EIVLLDHGLYQMPTEEFRLNYCHLW	7.0	6.0	-	-	4320_14:78392111-78392111 T>C_EIVLLDHGLYQMPTEEFRLNYCHLW
2:158152958-158152958 T>G	1.0	4320	COLON	-	-	-	-	GALNT5	ENST00000259056,p.F644V|NM_014568,p.F644V|uc002tzg.3,p.F644V	protein_coding, processed_transcript	uc002tzg.3	nonsynonymous SNV	exon5	c.T1930G	p.F644V	NFQRGIFVWPMNFGWRTIPPDVIAK	NFQRGIFVWPMNVGWRTIPPDVIAK	5.0	7.0	unscreened	-	4320_2:158152958-158152958 T>G_NFQRGIFVWPMNVGWRTIPPDVIAK
17:56585841-56585841 T>G	1.0	4320	COLON	-	-	-	-	MTMR4	ENST00000579925,p.N180T|uc002iwj.2,p.N180T|NM_004687,p.N180T|ENST00000323456,p.N180T	retained_intron, protein_coding, nonsense_mediated_decay	uc002iwj.2	nonsynonymous SNV	exon7	c.A539C	p.N180T	FDLQNVWRVSHINSNYKLCPSYPQK	FDLQNVWRVSHITSNYKLCPSYPQK	8.0	6.0	-	-	4320_17:56585841-56585841 T>G_FDLQNVWRVSHITSNYKLCPSYPQK
12:64519784-64519784 A>G	1.0	4320	COLON	-	-	-	-	SRGAP1	NM_020762,p.K751R|ENST00000543397,p.K688R|ENST00000355086,p.K751R|uc001srv.2,p.K688R|uc010ssp.1,p.K751R|ENST00000357825,p.K728R	retained_intron, protein_coding	uc010ssp.1	nonsynonymous SNV	exon19	c.A2252G	p.K751R	SEDECEPIEAIAKFDYVGRSARELS	SEDECEPIEAIARFDYVGRSARELS	7.0	5.0	-	-	4320_12:64519784-64519784 A>G_SEDECEPIEAIARFDYVGRSARELS
3:178916924-178916924 C>T	1.0	4320	COLON	-	-	ID=COSM163485,COSM1484857;OCCURENCE=1(NS),1(breast)	1	PIK3CA	NM_006218,p.P104L|ENST00000468036,p.P104L|uc003fjk.3,p.P104L|ENST00000263967,p.P104L	retained_intron, protein_coding	uc003fjk.3	nonsynonymous SNV	exon2	c.C311T	p.P104L	LRLFQPFLKVIEPVGNREEKILNRE	LRLFQPFLKVIELVGNREEKILNRE	7.0	10.0	-	-	4320_3:178916924-178916924 C>T_LRLFQPFLKVIELVGNREEKILNRE
14:102502833-102502833 C>A	1.0	4320	COLON	-	-	-	-	DYNC1H1	uc001yks.2,p.L3588M|ENST00000360184,p.L3588M|NM_001376,p.L3588M	retained_intron, protein_coding, processed_transcript	uc001yks.2	nonsynonymous SNV	exon57	c.C10762A	p.L3588M	NAIMLKRFNRYPLIIDPSGQATEFI	NAIMLKRFNRYPMIIDPSGQATEFI	10.0	1.0	-	-	4320_14:102502833-102502833 C>A_NAIMLKRFNRYPMIIDPSGQATEFI
16:1748838-1748838 G>C	1.0	4320	COLON	-	-	-	-	HN1L	ENST00000562569,p.E103Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000562569	nonsynonymous SNV	exon4	c.G307C	p.E103Q	DLKAARSIPAGAEPGIMWIQGKLLR	DLKAARSIPAGAQPGIMWIQGKLLR	10.0	4.0	unscreened	-	4320_16:1748838-1748838 G>C_DLKAARSIPAGAQPGIMWIQGKLLR
2:131414184-131414184 A>C	0.0	4320	COLON	-	-	-	-	POTEJ	ENST00000409602,p.E617D|NM_001277083,p.E617D|uc021vor.2,p.E617D	protein_coding	uc021vor.2	nonsynonymous SNV	exon15	c.A1851C	p.E617D	RDFLHENSMLREEIAMLRLELDTMK	RDFLHENSMLREDIAMLRLELDTMK	8.0	2.0	-	-	4320_2:131414184-131414184 A>C_RDFLHENSMLREDIAMLRLELDTMK
15:93545433-93545433 ->A	1.0	4320	COLON	-	-	-	2	CHD2	ENST00000394196,p.M1388fs|uc002bso.1,p.M1388fs|NM_001271,p.M1388fs|uc002bsp.3,p.M1388fs|ENST00000557381,p.M1388fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bsp.3	frameshift insertion	exon33	c.4165dupA	p.M1388fs	GEVKDDGLEKSPMKKKQKKKENKEN	GEVKDDGLEKSPMKKKTEEEREQGEQGETNEF	10.0	9.0	-	-	4320_15:93545433-93545433 ->A_GEVKDDGLEKSPMKKKTEEEREQGEQGETNEF
7:139717535-139717535 C>T	1.0	4320	COLON	-	-	-	-	TBXAS1	NM_001130966,p.R478W|uc003vvh.3,p.R478W|uc011kqw.2,p.R458W|NM_001166254,p.R410W|NM_001166253,p.R524W|ENST00000425687,p.R410W|uc010lne.3,p.R410W|uc011kqv.2,p.R524W|ENST00000336425,p.R477W|ENST00000448866,p.R477W|ENST00000458722,p.R523W|ENST00000436047,p.R478W|ENST00000416849,p.R524W|NM_001061,p.R478W|uc003vvi.3,p.R478W|ENST00000263552,p.R478W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kqw.2	nonsynonymous SNV	exon12	c.C1372T	p.R458W	RPFTYLPFGAGPRSCLGVRLGLLEV	RPFTYLPFGAGPWSCLGVRLGLLEV	10.0	7.0	-	-	4320_7:139717535-139717535 C>T_RPFTYLPFGAGPWSCLGVRLGLLEV
6:90499960-90499960 A>C	0.0	4320	COLON	-	-	-	-	MDN1	uc003pnn.1,p.V339G|ENST00000428876,p.V339G|ENST00000369393,p.V339G|ENST00000439638,p.V339G|NM_014611,p.V339G|uc003pnp.1,p.V339G	protein_coding, processed_transcript, nonsense_mediated_decay	uc003pnp.1	nonsynonymous SNV	exon6	c.T1016G	p.V339G	LEGPIGCGKTSLVEYLAAVTGRTKP	LEGPIGCGKTSLGEYLAAVTGRTKP	7.0	1.0	-	-	4320_6:90499960-90499960 A>C_LEGPIGCGKTSLGEYLAAVTGRTKP
4:129019407-129019407 A>C	1.0	4320	COLON	-	-	-	-	LARP1B	ENST00000432347,p.Q245H|uc003ifx.3,p.Q245H|NM_001278604,p.Q245H|ENST00000427266,p.Q245H|ENST00000394288,p.Q245H|NM_018078,p.Q245H|NM_032239,p.Q245H|ENST00000264584,p.Q198H|ENST00000441387,p.Q245H|uc003ifw.1,p.Q198H|NM_178043,p.Q245H|uc003ify.3,p.Q245H|ENST00000512292,p.Q245H|uc003ifz.1,p.Q245H|uc003iga.3,p.Q245H|ENST00000508819,p.Q198H|ENST00000326639,p.Q245H	protein_coding, processed_transcript, nonsense_mediated_decay	uc003iga.3	nonsynonymous SNV	exon8	c.A735C	p.Q245H	ERDFFLRGKMDEQGFLPISLIAGFQ	ERDFFLRGKMDEHGFLPISLIAGFQ	8.0	7.0	-	-	4320_4:129019407-129019407 A>C_ERDFFLRGKMDEHGFLPISLIAGFQ
19:6444163-6444163 T>G	1.0	4320	COLON	-	-	-	-	SLC25A23	ENST00000334510,p.Q407H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000334510	nonsynonymous SNV	exon9	c.A1221C	p.Q407H	YPLALVRTRMQAQDVSVYKTDTVPT	YPLALVRTRMQAHDVSVYKTDTVPT	6.0	5.0	unscreened	-	4320_19:6444163-6444163 T>G_YPLALVRTRMQAHDVSVYKTDTVPT
9:136672418-136672418 T>G	1.0	4320	COLON	-	-	-	-	VAV2	uc004cer.3,p.S228R|uc004ces.3,p.S233R|ENST00000406606,p.S228R|ENST00000371850,p.S233R|NM_003371,p.S228R|NM_001134398,p.S233R|ENST00000371851,p.S228R	protein_coding, processed_transcript	uc004ces.3	nonsynonymous SNV	exon8	c.A697C	p.S233R	EKNYMSPLRLVLSPADMAAVFINLE	EKNYMSPLRLVLRPADMAAVFINLE	8.0	8.0	-	-	4320_9:136672418-136672418 T>G_EKNYMSPLRLVLRPADMAAVFINLE
10:91520364-91520364 A>C	1.0	4320	COLON	-	-	-	-	KIF20B	uc001kgr.1,p.S1548R|ENST00000260753,p.S1548R|NM_001284259,p.S1588R|NM_016195,p.S1548R|ENST00000416354,p.S1618R|uc001kgs.1,p.S1588R|uc001kgt.1,p.S799R|ENST00000371728,p.S1588R|ENST00000394289,p.S1588R	protein_coding, processed_transcript	uc001kgt.1	nonsynonymous SNV	exon15	c.A2395C	p.S799R	DPDKLQTEPLSTSFEISRNKIEDGS	DPDKLQTEPLSTRFEISRNKIEDGS	7.0	6.0	-	-	4320_10:91520364-91520364 A>C_DPDKLQTEPLSTRFEISRNKIEDGS
19:50333423-50333424 CT>-	1.0	4320	COLON	-	-	-	-	MED25	NM_030973,p.T256fs|uc002ppw.2,p.T256fs|uc002ppx.1,p.T37fs|ENST00000312865,p.T256fs	retained_intron, protein_coding	uc002ppx.1	frameshift deletion	exon2	c.110_111del	p.T37fs	PVPLPPAAPSGATLSAAPQQPLPPV	PVPLPPAAPSGATLSSPPAASAPRPPAVPGSREPECSSGGRAECSGGCQEPEGWAGPSLLAHHPSPTSCSRSGSPLQPGPSSPTTPRTPWRPQATTCFPAQSGLHCGPWLRPGSHGTARGTVHGRHCGPRRGERPFPSPAGSPSPRWAAVSLQ	9.0	6.0	-	-	4320_19:50333423-50333424 CT>-_PVPLPPAAPSGATLSSPPAASAPRPPAVPGSREPECSSGGRAECSGGCQEPEGWAGPSLLAHHPSPTSCSRSGSPLQPGPSSPTTPRTPWRPQATTCFPAQSGLHCGPWLRPGSHGTARGTVHGRHCGPRRGERPFPSPAGSPSPRWAAVSLQ
17:76130601-76130601 A>G	1.0	4320	COLON	-	-	-	-	TMC8	ENST00000589691,p.S92G|ENST00000318430,p.S315G|NM_152468,p.S315G|uc010wtr.1,p.S32G|uc002jup.2,p.S315G|uc002juq.2,p.S92G	retained_intron, protein_coding, processed_transcript	uc010wtr.1	nonsynonymous SNV	exon1	c.A94G	p.S32G	NVLNGLLVVGAISAIFWATKYSQDN	NVLNGLLVVGAIGAIFWATKYSQDN	6.0	5.0	-	-	4320_17:76130601-76130601 A>G_NVLNGLLVVGAIGAIFWATKYSQDN
4:187122475-187122475 A>C	1.0	4320	COLON	-	-	-	-	CYP4V2	NM_207352,p.E322D|uc003iyw.4,p.E322D|ENST00000378802,p.E322D	retained_intron, protein_coding, processed_transcript	uc003iyw.4	nonsynonymous SNV	exon7	c.A966C	p.E322D	EGNRLSHEDIREEVDTFMFEGHDTT	EGNRLSHEDIREDVDTFMFEGHDTT	7.0	8.0	-	-	4320_4:187122475-187122475 A>C_EGNRLSHEDIREDVDTFMFEGHDTT
20:50701316-50701316 T>A	1.0	4320	COLON	-	-	-	-	ZFP64	ENST00000361387,p.K573M|ENST00000371523,p.K354M|NM_199427,p.K573M|uc002xwk.3,p.K573M|uc002xwj.3,p.K354M	protein_coding, processed_transcript	uc002xwk.3	nonsynonymous SNV	exon9	c.A1718T	p.K573M	EGLREGSSQHVAKIVTQRAFRCETC	EGLREGSSQHVAMIVTQRAFRCETC	9.0	7.0	-	-	4320_20:50701316-50701316 T>A_EGLREGSSQHVAMIVTQRAFRCETC
10:62547819-62547819 G>C	0.0	4320	COLON	-	-	-	-	CDK1	NM_001786,p.S107T|ENST00000395284,p.S107T|uc031pvg.1,p.S107T|uc001jld.3,p.S107T|ENST00000519078,p.S107T|ENST00000448257,p.S107T	retained_intron, protein_coding, processed_transcript	uc031pvg.1	nonsynonymous SNV	exon5	c.G320C	p.S107T	PPGQYMDSSLVKSYLYQILQGIVFC	PPGQYMDSSLVKTYLYQILQGIVFC	7.0	1.0	-	-	4320_10:62547819-62547819 G>C_PPGQYMDSSLVKTYLYQILQGIVFC
1:32623946-32623946 A>T	1.0	4320	COLON	-	-	-	-	KPNA6	ENST00000446515,p.E88V	protein_coding, processed_transcript	ENST00000446515	nonsynonymous SNV	exon3	c.A263T	p.E88V	VVDRFVEFLKRNENCTLQAVWALGN	VVDRFVEFLKRNVNCTLQAVWALGN	8.0	4.0	unscreened	-	4320_1:32623946-32623946 A>T_VVDRFVEFLKRNVNCTLQAVWALGN
21:43239986-43239986 G>A	1.0	4320	COLON	-	-	-	-	PRDM15	uc002yzr.1,p.R795C|ENST00000433067,p.R1104C|ENST00000447207,p.R738C|ENST00000398548,p.R775C|NM_001282934,p.R795C|ENST00000422911,p.R795C|uc002yzq.1,p.R1104C|NM_001040424,p.R775C|uc002yzo.3,p.R775C|ENST00000538201,p.R758C|ENST00000269844,p.R1104C|uc002yzp.3,p.R795C|ENST00000447016,p.R738C|NM_022115,p.R1104C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002yzr.1	nonsynonymous SNV	exon19	c.C2383T	p.R795C	SFARKDMLKEHMRVHDNVREYLCAE	SFARKDMLKEHMCVHDNVREYLCAE	7.0	10.0	-	-	4320_21:43239986-43239986 G>A_SFARKDMLKEHMCVHDNVREYLCAE
1:226108198-226108198 T>G	1.0	4320	COLON	-	-	-	-	PYCR2	uc001hpq.4,p.K307T|NM_013328,p.K307T|ENST00000343818,p.K307T|NM_001271681,p.K233T|uc031psk.1,p.K233T	retained_intron, protein_coding, processed_transcript	uc031psk.1	nonsynonymous SNV	exon6	c.A698C	p.K233T	PTVSTLTPSSPGKLLTRSLALGGKK	PTVSTLTPSSPGTLLTRSLALGGKK	8.0	3.0	-	-	4320_1:226108198-226108198 T>G_PTVSTLTPSSPGTLLTRSLALGGKK
12:112717122-112717122 A>C	1.0	4320	COLON	-	-	-	-	HECTD4	ENST00000377560,p.L389V|uc001tts.3,p.L389V|ENST00000550722,p.L389V|uc021reb.1,p.L389V|NM_001109662,p.L389V|ENST00000430131,p.L139V	retained_intron, protein_coding, processed_transcript	uc021reb.1	nonsynonymous SNV	exon9	c.T1165G	p.L389V	LRKTPIYTCGTYLVMLVPPPGGSGS	LRKTPIYTCGTYVVMLVPPPGGSGS	8.0	1.0	-	-	4320_12:112717122-112717122 A>C_LRKTPIYTCGTYVVMLVPPPGGSGS
11:59573845-59573845 T>G	1.0	4320	COLON	-	-	-	-	MRPL16	uc001noh.2,p.K244T|ENST00000300151,p.K244T|NM_017840,p.K244T	retained_intron, protein_coding	uc001noh.2	nonsynonymous SNV	exon4	c.A731C	p.K244T	PYDLTHKGKYWGKFYMPKRV	PYDLTHKGKYWGTFYMPKRV	8.0	3.0	-	-	4320_11:59573845-59573845 T>G_PYDLTHKGKYWGTFYMPKRV
16:67290473-67290473 G>A	1.0	4320	COLON	-	-	-	-	SLC9A5	uc002esm.3,p.C338Y|ENST00000299798,p.C338Y|uc010cee.3,p.C43Y|NM_004594,p.C338Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cee.3	nonsynonymous SNV	exon5	c.G128A	p.C43Y	TTVKYTMKTLASCAETVIFMLLGIS	TTVKYTMKTLASYAETVIFMLLGIS	4.0	7.0	unscreened	-	4320_16:67290473-67290473 G>A_TTVKYTMKTLASYAETVIFMLLGIS
3:178936091-178936091 G>A	1.0	4320	COLON	-	-	ID=COSM763,COSM125370;OCCURENCE=4(salivary_gland),38(endometrium),4(soft_tissue),28(ovary),1(pituitary),4(kidney),3(pancreas),3(liver),126(urinary_tract),1(biliary_tract),373(large_intestine),1(prostate),365(breast),16(skin),1(small_intestine),41(upper_aerodigestive_tract),8(oesophagus),18(stomach),17(central_nervous_system),21(cervix),7(gastrointestinal_tract_(site_indeterminate)),4(penis),44(lung),7(thyroid)	1	PIK3CA	ENST00000263967,p.E545K|uc003fjk.3,p.E545K|NM_006218,p.E545K	retained_intron, protein_coding	uc003fjk.3	nonsynonymous SNV	exon10	c.G1633A	p.E545K	AISTRDPLSEITEQEKDFLWSHRHY	AISTRDPLSEITKQEKDFLWSHRHY	7.0	8.0	-	-	4320_3:178936091-178936091 G>A_AISTRDPLSEITKQEKDFLWSHRHY
1:32623946-32623946 A>T	1.0	4320	COLON	-	-	-	-	KPNA6	ENST00000537234,p.E134V|ENST00000373625,p.E137V|uc010ogx.2,p.E134V|ENST00000471599,p.E131V|uc001bug.3,p.E137V|ENST00000545542,p.E142V|uc010ogy.2,p.E142V|NM_012316,p.E137V	protein_coding, processed_transcript	uc010ogy.2	nonsynonymous SNV	exon5	c.A425T	p.E142V	VVDRFVEFLKRNENCTLQFEAAWAL	VVDRFVEFLKRNVNCTLQFEAAWAL	8.0	4.0	-	-	4320_1:32623946-32623946 A>T_VVDRFVEFLKRNVNCTLQFEAAWAL
9:7169802-7169802 A>C	1.0	4320	COLON	-	-	-	-	KDM4C	uc011lmk.2,p.E714A|ENST00000381306,p.E969A|uc003zkh.3,p.E969A|uc003zkg.3,p.E969A|ENST00000442236,p.E714A|NM_001146694,p.E969A|uc011lml.2,p.E656A|NM_015061,p.E969A|ENST00000428870,p.E656A|ENST00000381309,p.E969A	protein_coding, processed_transcript, nonsense_mediated_decay	uc011lml.2	nonsynonymous SNV	exon14	c.A1967C	p.E656A	YFGSNIAHMYQVEFEDGSQIAMKRE	YFGSNIAHMYQVAFEDGSQIAMKRE	10.0	6.0	-	-	4320_9:7169802-7169802 A>C_YFGSNIAHMYQVAFEDGSQIAMKRE
20:42196569-42196569 A>C	1.0	4320	COLON	-	-	ID=COSM1265450;OCCURENCE=1(oesophagus)	-	SGK2	ENST00000423407,p.K53T|ENST00000496343,p.K53T|NM_170693,p.K53T|ENST00000412111,p.K53T|ENST00000373100,p.K53T|uc002xkq.1,p.K53T|uc010ggm.3,p.K53T|uc002xkr.3,p.K53T|ENST00000373092,p.K53T|uc002xkv.3,p.K113T|ENST00000341458,p.K113T|NM_001199264,p.K53T|uc002xku.3,p.K53T|ENST00000426287,p.K79T|ENST00000373077,p.K53T|NM_016276,p.K113T	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ggm.3	nonsynonymous SNV	exon5	c.A158C	p.K53T	IGKGNYGKVLLAKRKSDGAFYAVKV	IGKGNYGKVLLATRKSDGAFYAVKV	7.0	6.0	-	-	4320_20:42196569-42196569 A>C_IGKGNYGKVLLATRKSDGAFYAVKV
11:65629452-65629452 G>T	1.0	4320	COLON	-	-	-	-	MUS81	ENST00000308110,p.S129I|uc001ofv.4,p.S129I|NM_025128,p.S129I|ENST00000525768,p.S54I|ENST00000533035,p.S54I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ofv.4	nonsynonymous SNV	exon4	c.G386T	p.S129I	PVPAQPKAGGSGSYWPARHSGARVI	PVPAQPKAGGSGIYWPARHSGARVI	9.0	7.0	-	-	4320_11:65629452-65629452 G>T_PVPAQPKAGGSGIYWPARHSGARVI
4:106196673-106196673 A>C	0.0	4320	COLON	-	-	-	1	TET2	NM_001127208,p.K1669T|ENST00000540549,p.K1669T|ENST00000513237,p.K1690T|uc011cez.2,p.K1690T|ENST00000380013,p.K1669T|uc003hxk.3,p.K1669T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cez.2	nonsynonymous SNV	exon11	c.A5069C	p.K1690T	DLYRYPSQDPLSKLSLPPIHTLYQP	DLYRYPSQDPLSTLSLPPIHTLYQP	7.0	2.0	-	-	4320_4:106196673-106196673 A>C_DLYRYPSQDPLSTLSLPPIHTLYQP
X:100871177-100871177 G>A	1.0	4320	COLON	-	-	-	-	ARMCX6	ENST00000539247,p.A145V|uc004ehy.3,p.A145V|uc022can.1,p.A145V|uc004ehx.3,p.A145V|NM_019007,p.A145V|ENST00000538627,p.A145V|uc022cao.1,p.A145V|NM_001184768,p.A145V|ENST00000361910,p.A145V|NM_001009584,p.A145V	protein_coding, processed_transcript	uc022cao.1	nonsynonymous SNV	exon1	c.C434T	p.A145V	IQGKLLFAEPKDAGFPFSQDINSHL	IQGKLLFAEPKDVGFPFSQDINSHL	6.0	6.0	-	-	4320_X:100871177-100871177 G>A_IQGKLLFAEPKDVGFPFSQDINSHL
19:4326987-4326987 T>C	1.0	4320	COLON	-	-	-	-	STAP2	NM_017720,p.K261E|uc021unb.1,p.K261E|uc021unc.1,p.K261E|ENST00000600324,p.K261E|uc002mab.3,p.K261E|NM_001013841,p.K261E|ENST00000601482,p.K216E|ENST00000594605,p.K261E|uc002mac.3,p.K261E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021unc.1	nonsynonymous SNV	exon9	c.A781G	p.K261E	DYEKVLGYVEADKENGENVWVAPSA	DYEKVLGYVEADEENGENVWVAPSA	9.0	7.0	-	-	4320_19:4326987-4326987 T>C_DYEKVLGYVEADEENGENVWVAPSA
11:65392678-65392678 T>G	1.0	4320	COLON	-	-	-	-	PCNXL3	uc001oey.2,p.S986A|NM_032223,p.S986A|ENST00000355703,p.S986A	retained_intron, protein_coding, processed_transcript	uc001oey.2	nonsynonymous SNV	exon17	c.T2956G	p.S986A	TPWPEQHVPVLFSVFCGLLVALSYH	TPWPEQHVPVLFAVFCGLLVALSYH	8.0	7.0	-	-	4320_11:65392678-65392678 T>G_TPWPEQHVPVLFAVFCGLLVALSYH
2:101706776-101706776 C>T	1.0	4320	COLON	-	-	ID=COSM1398437,COSM1398438;OCCURENCE=1(large_intestine)	-	TBC1D8	uc010fiv.3,p.A60T|NM_001102426,p.A60T|ENST00000409318,p.A60T|uc010yvw.2,p.A60T|ENST00000376840,p.A60T	retained_intron, protein_coding, processed_transcript	uc010yvw.2	nonsynonymous SNV	exon2	c.G178A	p.A60T	ALDAVLDSNARVAPFRILLQVPGSQ	ALDAVLDSNARVTPFRILLQVPGSQ	7.0	9.0	CD8	-	4320_2:101706776-101706776 C>T_ALDAVLDSNARVTPFRILLQVPGSQ
13:32749722-32749722 A>C	1.0	4320	COLON	-	-	-	-	FRY	uc001utx.3,p.S792R|ENST00000380250,p.S792R|NM_023037,p.S792R	protein_coding, processed_transcript, nonsense_mediated_decay	uc001utx.3	nonsynonymous SNV	exon20	c.A2374C	p.S792R	DDRPMIDVMDQLSSSILESFIHVAV	DDRPMIDVMDQLRSSILESFIHVAV	6.0	2.0	-	-	4320_13:32749722-32749722 A>C_DDRPMIDVMDQLRSSILESFIHVAV
12:25398284-25398284 C>T	1.0	4320	COLON	-	-	ID=COSM521,COSM1135366;OCCURENCE=1(salivary_gland),171(endometrium),265(ovary),20(soft_tissue),19(urinary_tract),1(kidney),2323(pancreas),15(liver),3(eye),22(prostate),321(biliary_tract),6237(large_intestine),18(breast),24(skin),58(small_intestine),25(upper_aerodigestive_tract),10(oesophagus),4(central_nervous_system),93(stomach),2(testis),19(cervix),114(haematopoietic_and_lymphoid_tissue),15(gastrointestinal_tract_(site_indeterminate)),37(thyroid),737(lung),25(peritoneum)	1	KRAS	ENST00000256078,p.G12D|uc001rgq.1,p.G12D|NM_004985,p.G12D|uc001rgp.1,p.G12D|ENST00000556131,p.G12D|ENST00000311936,p.G12D|NM_033360,p.G12D|ENST00000557334,p.G12D	protein_coding	uc001rgq.1	nonsynonymous SNV	exon2	c.G35A	p.G12D	MTEYKLVVVGAGGVGKSALTIQLI	MTEYKLVVVGADGVGKSALTIQLI	7.0	10.0	-	-	4320_12:25398284-25398284 C>T_MTEYKLVVVGADGVGKSALTIQLI
7:100638157-100638157 C>T	1.0	4320	COLON	-	-	-	-	MUC12	ENST00000536621,p.T1438I|ENST00000379442,p.T1581I|NM_001164462,p.T1438I|uc003uxo.3,p.T1438I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.C4313T	p.T1438I	ASSTSAGLQEESTTFQSWPSSSDTT	ASSTSAGLQEESITFQSWPSSSDTT	1.0	10.0	unscreened	-	4320_7:100638157-100638157 C>T_ASSTSAGLQEESITFQSWPSSSDTT
7:140058531-140058551 ACAGCCATTTGTTGTAGAAAC>-	0.0	4320	COLON	-	-	-	-	SLC37A3	ENST00000326232,p.137_144del|NM_207113,p.137_144del|NM_001287498,p.137_144del|ENST00000484416,p.40_47del|uc011kra.1,p.137_144del|uc010lnh.3,p.137_144del|uc003vvp.3,p.137_144del|uc003vvo.3,p.137_144del|NM_032295,p.137_144del|uc011krb.1,p.109_116del|ENST00000447932,p.137_144del|ENST00000340308,p.137_144del|ENST00000477571,p.137_144del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011krb.1	nonframeshift deletion	exon5	c.326_346del	p.109_116del	VVFVFGALTEWLRFYNKWLYCCLWI	VVFVFGALTEWLHCCLWIVNGLLQS	9.0	1.0	CD8	-	4320_7:140058531-140058551 ACAGCCATTTGTTGTAGAAAC>-_VVFVFGALTEWLHCCLWIVNGLLQS
7:77407978-77407978 T>A	1.0	4320	COLON	-	-	-	-	RSBN1L	ENST00000441514,p.F150I	retained_intron, protein_coding	ENST00000441514	nonsynonymous SNV	exon4	c.T448A	p.F150I	LSQECCSSVQDSFSCMQFSMAYSAQ	LSQECCSSVQDSISCMQFSMAYSAQ	7.0	7.0	unscreened	-	4320_7:77407978-77407978 T>A_LSQECCSSVQDSISCMQFSMAYSAQ
7:89793972-89793972 A>C	1.0	4320	COLON	-	-	-	-	STEAP1	uc003ujx.3,p.K315T|ENST00000297205,p.K315T|NM_012449,p.K315T	retained_intron, protein_coding, nonsense_mediated_decay	uc003ujx.3	nonsynonymous SNV	exon5	c.A944C	p.K315T	IFKSILFLPCLRKKILKIRHGWEDV	IFKSILFLPCLRTKILKIRHGWEDV	8.0	2.0	-	-	4320_7:89793972-89793972 A>C_IFKSILFLPCLRTKILKIRHGWEDV
7:7629132-7629132 T>G	1.0	4320	COLON	-	-	-	-	MIOS	uc003srf.3,p.L661V|uc003srg.3,p.L196V|NM_019005,p.L661V|ENST00000340080,p.L661V|uc010ktq.3,p.L56V|ENST00000405785,p.L661V	retained_intron, protein_coding, processed_transcript	uc010ktq.3	nonsynonymous SNV	exon3	c.T166G	p.L56V	ILLTGLTKDGVDLMESYVDRTGDVQ	ILLTGLTKDGVDVMESYVDRTGDVQ	7.0	1.0	-	-	4320_7:7629132-7629132 T>G_ILLTGLTKDGVDVMESYVDRTGDVQ
16:30762571-30762571 C>G	1.0	4320	COLON	-	-	-	-	PHKG2	uc002dzl.1,p.I80M	retained_intron, protein_coding, nonsense_mediated_decay	uc002dzl.1	nonsynonymous SNV	exon2	c.C240G	p.I80M	EEVREATRRETHILRQVAGHPHISE	EEVREATRRETHMLRQVAGHPHISE	9.0	8.0	-	-	4320_16:30762571-30762571 C>G_EEVREATRRETHMLRQVAGHPHISE
16:30762571-30762571 C>G	1.0	4320	COLON	-	-	-	-	PHKG2	ENST00000424889,p.I80M|ENST00000565924,p.I80M|ENST00000328273,p.I80M|uc021tgo.1,p.I80M|ENST00000565897,p.I80M|ENST00000563588,p.I80M|NM_000294,p.I80M|uc002dzk.2,p.I80M|NM_001172432,p.I80M	retained_intron, protein_coding, nonsense_mediated_decay	uc021tgo.1	nonsynonymous SNV	exon3	c.C240G	p.I80M	EEVREATRRETHILRQVAGHPHIIT	EEVREATRRETHMLRQVAGHPHIIT	9.0	8.0	-	-	4320_16:30762571-30762571 C>G_EEVREATRRETHMLRQVAGHPHIIT
9:15695237-15695237 A>G	1.0	4320	COLON	-	-	-	-	CCDC171	uc010mih.1,p.K407R|uc011lmu.2,p.K407R|ENST00000380701,p.K407R|uc003zme.3,p.K314R|NM_173550,p.K407R|uc003zmd.3,p.K407R|ENST00000297641,p.K407R	protein_coding, processed_transcript	uc011lmu.2	nonsynonymous SNV	exon10	c.A1220G	p.K407R	SCSELQEELVMAKKHQAFLVETCEN	SCSELQEELVMARKHQAFLVETCEN	5.0	2.0	unscreened	-	4320_9:15695237-15695237 A>G_SCSELQEELVMARKHQAFLVETCEN
4:115544371-115544371 A>C	1.0	4320	COLON	-	-	-	-	UGT8	uc003ibt.2,p.K112T|NM_001128174,p.K112T|ENST00000394511,p.K112T|ENST00000310836,p.K112T|ENST00000507710,p.K112T|NM_003360,p.K112T|uc003ibs.2,p.K112T	protein_coding	uc003ibt.2	nonsynonymous SNV	exon1	c.A335C	p.K112T	AIELFDILDHYTKNCDLMVGNHALI	AIELFDILDHYTTNCDLMVGNHALI	8.0	2.0	-	-	4320_4:115544371-115544371 A>C_AIELFDILDHYTTNCDLMVGNHALI
X:53409524-53409524 T>G	1.0	4320	COLON	-	-	-	2	SMC1A	uc004dsg.3,p.K1063T|NM_006306,p.K1063T|uc011moe.2,p.K1041T|ENST00000322213,p.K1063T|NM_001281463,p.K1041T	protein_coding, processed_transcript	uc011moe.2	nonsynonymous SNV	exon22	c.A3122C	p.K1041T	RAKKAKQAFEQIKKERFDRFNACFE	RAKKAKQAFEQITKERFDRFNACFE	10.0	3.0	-	-	4320_X:53409524-53409524 T>G_RAKKAKQAFEQITKERFDRFNACFE
X:99925823-99925823 C>T	0.0	4320	COLON	-	-	-	-	SRPX2	uc004egb.3,p.R413C|NM_014467,p.R413C|ENST00000373004,p.R413C	protein_coding, processed_transcript	uc004egb.3	nonsynonymous SNV	exon11	c.C1237T	p.R413C	IIEELRQFQRLTRSYFNMVLIDKQG	IIEELRQFQRLTCSYFNMVLIDKQG	9.0	10.0	-	-	4320_X:99925823-99925823 C>T_IIEELRQFQRLTCSYFNMVLIDKQG
16:50353920-50353920 A>C	1.0	4320	COLON	-	-	-	-	BRD7	ENST00000394688,p.L593R|ENST00000394689,p.L594R|uc002ege.2,p.L594R|ENST00000569774,p.L51R|NM_013263,p.L593R|NM_001173984,p.L594R|uc021thx.1,p.L593R	retained_intron, protein_coding, processed_transcript	uc021thx.1	nonsynonymous SNV	exon16	c.T1778G	p.L593R	REMHLAEQVTNNLKELAQQVTPGDI	REMHLAEQVTNNRKELAQQVTPGDI	10.0	3.0	-	-	4320_16:50353920-50353920 A>C_REMHLAEQVTNNRKELAQQVTPGDI
X:48542706-48542706 C>T	1.0	4320	COLON	-	-	ID=COSM1122129;OCCURENCE=1(endometrium)	1	WAS	NM_000377,p.A56V|ENST00000450772,p.A56V|uc004dkm.4,p.A56V|ENST00000376701,p.A56V	protein_coding, processed_transcript	uc004dkm.4	nonsynonymous SNV	exon2	c.C167T	p.A56V	LTLATAVVQLYLALPPGAEHWTKEH	LTLATAVVQLYLVLPPGAEHWTKEH	6.0	8.0	-	-	4320_X:48542706-48542706 C>T_LTLATAVVQLYLVLPPGAEHWTKEH
1:233802655-233802655 A>G	0.0	4320	COLON	-	-	-	-	KCNK1	uc010pxo.1,p.S224G|ENST00000446915,p.S142G|ENST00000366620,p.S108G|NM_002245,p.S224G|ENST00000366621,p.S224G	protein_coding, processed_transcript	uc010pxo.1	nonsynonymous SNV	exon2	c.A670G	p.S224G	FLESFYFCFISLSTIGLGDYVPGEG	FLESFYFCFISLGTIGLGDYVPGEG	7.0	4.0	-	-	4320_1:233802655-233802655 A>G_FLESFYFCFISLGTIGLGDYVPGEG
X:37545369-37545369 A>C	0.0	4320	COLON	-	-	-	-	XK	uc004ddq.3,p.Q52P|ENST00000378616,p.Q52P|NM_021083,p.Q52P	protein_coding	uc004ddq.3	nonsynonymous SNV	exon1	c.A155C	p.Q52P	TLLFSLLPCALVQLTLLFVHRDLSR	TLLFSLLPCALVPLTLLFVHRDLSR	6.0	1.0	-	-	4320_X:37545369-37545369 A>C_TLLFSLLPCALVPLTLLFVHRDLSR
2:108487231-108487231 A>C	0.0	4320	COLON	-	-	-	-	RGPD4	NM_182588,p.K924T|ENST00000408999,p.K924T|uc010ywk.2,p.K924T|ENST00000354986,p.K924T|uc002tdu.3,p.K111T	protein_coding	uc010ywk.2	nonsynonymous SNV	exon20	c.A2771C	p.K924T	EGFSIPVSADGFKFGISEPGNQEKE	EGFSIPVSADGFTFGISEPGNQEKE	7.0	1.0	-	-	4320_2:108487231-108487231 A>C_EGFSIPVSADGFTFGISEPGNQEKE
11:60233423-60233423 G>C	0.0	4320	COLON	-	-	-	-	MS4A1	ENST00000345732,p.L122F|ENST00000534668,p.L122F|ENST00000532073,p.L122F|uc009yna.3,p.L122F|uc001npp.3,p.L122F|NM_021950,p.L122F|ENST00000389939,p.L122F|uc009ymz.3,p.L122F|uc001npq.3,p.L122F|NM_152866,p.L122F	retained_intron, protein_coding, processed_transcript	uc009yna.3	nonsynonymous SNV	exon5	c.G366C	p.L122F	KCLVKGKMIMNSLSLFAAISGMILS	KCLVKGKMIMNSFSLFAAISGMILS	7.0	6.0	-	-	4320_11:60233423-60233423 G>C_KCLVKGKMIMNSFSLFAAISGMILS
20:44511262-44511262 G>A	1.0	4320	COLON	-	-	-	-	ZSWIM1	NM_080603,p.A11T|uc021wem.1,p.A11T|ENST00000372520,p.A11T|ENST00000372523,p.A11T|uc010ghi.3,p.A11T	protein_coding	uc021wem.1	nonsynonymous SNV	exon1	c.G31A	p.A11T	MLERLKAPWSAALQRKYFDLGIW	MLERLKAPWSTALQRKYFDLGIW	7.0	4.0	-	-	4320_20:44511262-44511262 G>A_MLERLKAPWSTALQRKYFDLGIW
1:245849728-245849728 C>T	1.0	4320	COLON	-	-	-	-	KIF26B	uc001ibf.1,p.P1148L|ENST00000407071,p.P1148L|NM_018012,p.P1148L|uc001ibg.1,p.P766L|uc001ibh.1,p.P390L|ENST00000366518,p.P767L	retained_intron, protein_coding, processed_transcript	uc001ibh.1	nonsynonymous SNV	exon3	c.C1169T	p.P390L	LKKSMSAGSEGFPETPVDDEQQAAT	LKKSMSAGSEGFLETPVDDEQQAAT	6.0	9.0	-	-	4320_1:245849728-245849728 C>T_LKKSMSAGSEGFLETPVDDEQQAAT
1:20945003-20945003 C>T	1.0	4320	COLON	-	-	-	-	CDA	ENST00000375071,p.T128M|uc001bdk.3,p.T128M|NM_001785,p.T128M	protein_coding, processed_transcript	uc001bdk.3	nonsynonymous SNV	exon4	c.C383T	p.T128M	YMTKPDGTYIVMTVQELLPSSFGPE	YMTKPDGTYIVMMVQELLPSSFGPE	7.0	10.0	-	-	4320_1:20945003-20945003 C>T_YMTKPDGTYIVMMVQELLPSSFGPE
12:19646803-19646803 T>G	1.0	4320	COLON	-	-	-	-	AEBP2	uc001ref.2,p.F353V|NM_001267043,p.F137V|ENST00000541908,p.F124V|uc001ree.2,p.F353V|ENST00000360995,p.F137V|ENST00000266508,p.F353V|NM_001114176,p.F353V|uc001reg.2,p.F137V|NM_153207,p.F353V|ENST00000398864,p.F353V	protein_coding	uc001reg.2	nonsynonymous SNV	exon4	c.T409G	p.F137V	SQGGLARHVPTHFSQQNSSKVSSQP	SQGGLARHVPTHVSQQNSSKVSSQP	8.0	2.0	-	-	4320_12:19646803-19646803 T>G_SQGGLARHVPTHVSQQNSSKVSSQP
9:131196807-131196807 G>A	1.0	4320	COLON	-	-	-	-	CERCAM	NM_016174,p.A484T|uc004buz.4,p.A484T|uc010mxz.3,p.A406T|ENST00000372842,p.A406T|uc004buy.1,p.A406T|NM_001286760,p.A406T|ENST00000372838,p.A484T|uc010mya.1,p.A325T	retained_intron, protein_coding, processed_transcript	uc010mya.1	nonsynonymous SNV	exon8	c.G973A	p.A325T	YWTLAYALRLAGARKLLASQPLRRM	YWTLAYALRLAGTRKLLASQPLRRM	6.0	9.0	-	-	4320_9:131196807-131196807 G>A_YWTLAYALRLAGTRKLLASQPLRRM
11:77090372-77090372 T>G	1.0	4320	COLON	-	-	-	-	PAK1	uc001oyh.4,p.K118T|NM_001128620,p.K118T|uc010rso.2,p.K20T|ENST00000530617,p.K118T|uc001oyi.1,p.K118T|ENST00000356341,p.K118T|NM_002576,p.K118T|ENST00000278568,p.K118T|uc001oyg.4,p.K118T|ENST00000528203,p.K20T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rso.2	nonsynonymous SNV	exon3	c.A59C	p.K20T	LLQTSNITKSEQKKNPQAVLDVLEF	LLQTSNITKSEQTKNPQAVLDVLEF	10.0	1.0	-	-	4320_11:77090372-77090372 T>G_LLQTSNITKSEQTKNPQAVLDVLEF
14:24429171-24429171 T>G	0.0	4320	COLON	-	-	-	-	DHRS4	uc001wla.3,p.F123V|NM_001282989,p.F123V|uc001wle.4,p.F123V|ENST00000382761,p.F105V|NM_021004,p.F123V|ENST00000313250,p.F123V|uc001wld.4,p.F123V|uc001wlc.4,p.F123V|uc010aky.2,p.F123V|ENST00000397075,p.F123V|NM_001282987,p.F123V|ENST00000543741,p.F123V|ENST00000558263,p.F123V	protein_coding	uc010aky.2	nonsynonymous SNV	exon3	c.T367G	p.F123V	DILVSNAAVNPFFGSIMDVTEEVWD	DILVSNAAVNPFVGSIMDVTEEVWD	8.0	2.0	-	-	4320_14:24429171-24429171 T>G_DILVSNAAVNPFVGSIMDVTEEVWD
8:68972933-68972939 TTGGAAA>-	0.0	4320	COLON	-	-	-	1	PREX2	NM_025170,p.L420fs|NM_024870,p.L420fs|uc003xxu.1,p.L420fs|uc003xxv.1,p.L420fs|ENST00000288368,p.L420fs|uc011lez.1,p.L355fs	protein_coding, processed_transcript	uc011lez.1	frameshift deletion	exon9	c.1063_1069del	p.L355fs	KCFLGSEFVSWLLEIGEIHRPEEGV	KCFLGSEFVSWLLERFTGLRKACTWDKHY	5.0	5.0	unscreened	-	4320_8:68972933-68972939 TTGGAAA>-_KCFLGSEFVSWLLERFTGLRKACTWDKHY
16:815187-815187 T>A	0.0	4320	COLON	-	-	-	-	MSLN	ENST00000563941,p.F196L|NM_013404,p.F196L|NM_005823,p.F196L|NM_001177355,p.F196L|ENST00000382862,p.F196L|uc002cjt.1,p.F196L|uc010brd.1,p.F195L|ENST00000563651,p.F196L|ENST00000566549,p.F196L|uc002cju.1,p.F196L|uc002cjw.2,p.F196L|ENST00000545450,p.F196L	protein_coding	uc010brd.1	nonsynonymous SNV	exon8	c.T585A	p.F195L	ALGGLACDLPGRFVAESAEVLLPRL	ALGGLACDLPGRLVAESAEVLLPRL	7.0	1.0	-	-	4320_16:815187-815187 T>A_ALGGLACDLPGRLVAESAEVLLPRL
5:145508631-145508631 T>G	1.0	4320	COLON	-	-	-	-	LARS	uc011dbr.1,p.E839D|NM_020117,p.E893D|ENST00000394434,p.E893D|ENST00000274562,p.E866D|ENST00000510191,p.E839D|ENST00000545646,p.E847D|uc003lnw.1,p.E51D|uc011dbq.1,p.E847D|uc003lnx.1,p.E893D|uc011dbs.1,p.E866D	retained_intron, protein_coding, processed_transcript	uc011dbs.1	nonsynonymous SNV	exon25	c.A2598C	p.E866D	MNASWPVAGPVNEVLIHSSQYLMEV	MNASWPVAGPVNDVLIHSSQYLMEV	10.0	5.0	-	-	4320_5:145508631-145508631 T>G_MNASWPVAGPVNDVLIHSSQYLMEV
10:90966919-90966919 G>A	0.0	4320	COLON	-	-	-	-	CH25H	ENST00000371852,p.S44F|uc001kfz.3,p.S44F|NM_003956,p.S44F	protein_coding	uc001kfz.3	nonsynonymous SNV	exon1	c.C131T	p.S44F	ALLQSPFFPVIFSITTYVGFCLPFV	ALLQSPFFPVIFFITTYVGFCLPFV	4.0	8.0	unscreened	-	4320_10:90966919-90966919 G>A_ALLQSPFFPVIFFITTYVGFCLPFV
2:241514005-241514005 G>C	1.0	4320	COLON	-	-	-	-	RNPEPL1	ENST00000451363,p.E6D	retained_intron, protein_coding, processed_transcript	ENST00000451363	nonsynonymous SNV	exon2	c.G18C	p.E6D	MKLLGEDSPVSKLQAYVE	MKLLGDDSPVSKLQAYVE	8.0	7.0	unscreened	-	4320_2:241514005-241514005 G>C_MKLLGDDSPVSKLQAYVE
11:59423101-59423101 A>T	1.0	4320	COLON	-	-	-	-	PATL1	ENST00000300146,p.L309H|uc010rkw.2,p.L14H|NM_152716,p.L309H|uc001noe.4,p.L309H|uc009yms.1,p.L279H	retained_intron, protein_coding	uc010rkw.2	nonsynonymous SNV	exon3	c.T41A	p.L14H	NPKLLQGRVGQMLPPAPGFRAFFSA	NPKLLQGRVGQMHPPAPGFRAFFSA	8.0	6.0	-	-	4320_11:59423101-59423101 A>T_NPKLLQGRVGQMHPPAPGFRAFFSA
19:6444163-6444163 T>G	1.0	4320	COLON	-	-	-	-	SLC25A23	uc002mex.1,p.Q407H|ENST00000414491,p.Q168H|uc010xjd.1,p.Q168H|ENST00000301454,p.Q407H|NM_024103,p.Q407H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xjd.1	nonsynonymous SNV	exon4	c.A504C	p.Q168H	YPLALVRTRMQAQASIEGGPQLSML	YPLALVRTRMQAHASIEGGPQLSML	6.0	5.0	-	-	4320_19:6444163-6444163 T>G_YPLALVRTRMQAHASIEGGPQLSML
18:9360052-9360052 A>C	0.0	4320	COLON	-	-	-	-	TWSG1	NM_020648,p.E69A|uc002knz.3,p.E69A|ENST00000262120,p.E69A|ENST00000581641,p.E69A	protein_coding, nonsense_mediated_decay	uc002knz.3	nonsynonymous SNV	exon3	c.A206C	p.E69A	KECMLCLGALWDECCDCVGMCNPRN	KECMLCLGALWDACCDCVGMCNPRN	8.0	3.0	-	-	4320_18:9360052-9360052 A>C_KECMLCLGALWDACCDCVGMCNPRN
2:241514005-241514005 G>C	1.0	4320	COLON	-	-	-	-	RNPEPL1	uc002vzi.4,p.E416D|ENST00000270357,p.E185D|NM_018226,p.E416D	retained_intron, protein_coding, processed_transcript	uc002vzi.4	nonsynonymous SNV	exon6	c.G1248C	p.E416D	LDALHRQMKLLGEDSPVSKLQVKLE	LDALHRQMKLLGDDSPVSKLQVKLE	8.0	7.0	-	-	4320_2:241514005-241514005 G>C_LDALHRQMKLLGDDSPVSKLQVKLE
18:9360052-9360052 A>C	0.0	4320	COLON	-	-	-	-	TWSG1	ENST00000583147,p.E69A	protein_coding, nonsense_mediated_decay	ENST00000583147	nonsynonymous SNV	exon3	c.A206C	p.E69A	KECMLCLGALWDECCDCVD	KECMLCLGALWDACCDCVD	8.0	3.0	unscreened	-	4320_18:9360052-9360052 A>C_KECMLCLGALWDACCDCVD
X:9733844-9733844 C>T	0.0	4320	COLON	-	-	-	-	GPR143	ENST00000380929,p.R25H	protein_coding, processed_transcript	ENST00000380929	nonsynonymous SNV	exon1	c.G74A	p.R25H	EPRPRTQPMASPRLGTFCCPTRDAA	EPRPRTQPMASPHLGTFCCPTRDAA	6.0	10.0	unscreened	-	4320_X:9733844-9733844 C>T_EPRPRTQPMASPHLGTFCCPTRDAA
17:17720579-17720579 C>T	1.0	4320	COLON	-	-	-	-	SREBF1	ENST00000338854,p.E533K|uc002grr.2,p.E279K|uc002grp.2,p.E152K|uc002grt.2,p.E563K|uc002grq.2,p.E52K|ENST00000261646,p.E533K|ENST00000355815,p.E563K|NM_004176,p.E533K|NM_001005291,p.E563K|uc002gru.2,p.E533K|uc002grs.2,p.E509K|ENST00000395757,p.E279K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gru.2	nonsynonymous SNV	exon8	c.G1597A	p.E533K	VYHSPGRNVLGTESRDGPGWAQWLL	VYHSPGRNVLGTKSRDGPGWAQWLL	9.0	10.0	-	-	4320_17:17720579-17720579 C>T_VYHSPGRNVLGTKSRDGPGWAQWLL
5:140768431-140768431 C>T	1.0	4320	COLON	-	-	ID=COSM388169;OCCURENCE=1(lung),3(large_intestine)	-	PCDHGB4	uc003lkc.2,p.A327V|ENST00000519479,p.A327V|NM_003736,p.A327V|NM_032098,p.A327V	protein_coding	uc003lkc.2	nonsynonymous SNV	exon1	c.C980T	p.A327V	IVLEARDGGGMIAQCTVEVEVIDEN	IVLEARDGGGMIVQCTVEVEVIDEN	4.0	10.0	unscreened	-	4320_5:140768431-140768431 C>T_IVLEARDGGGMIVQCTVEVEVIDEN
15:30001106-30001106 T>G	1.0	4320	COLON	-	-	-	-	TJP1	uc001zcs.3,p.S1423R|uc001zcr.3,p.S1503R|NM_001301026,p.S1427R|NM_003257,p.S1503R|ENST00000545208,p.S1423R|ENST00000400011,p.S1427R|NM_001301025,p.S1570R|uc010azl.3,p.S1491R|ENST00000356107,p.S1503R|uc001zcq.3,p.S1427R|ENST00000346128,p.S1503R|NM_175610,p.S1423R	retained_intron, protein_coding	uc010azl.3	nonsynonymous SNV	exon24	c.A4471C	p.S1491R	EDTAQAAFYPQKSFPDKAPVNGTEQ	EDTAQAAFYPQKRFPDKAPVNGTEQ	8.0	9.0	-	-	4320_15:30001106-30001106 T>G_EDTAQAAFYPQKRFPDKAPVNGTEQ
1:248722429-248722429 T>C	0.0	4320	COLON	-	-	-	-	OR2T29	NM_001004694,p.M122V|ENST00000328570,p.M122V|uc001ieo.2,p.M122V	protein_coding	uc001ieo.2	nonsynonymous SNV	exon1	c.A364G	p.M122V	TLAGSEFFLLATMAYDRYVAICHPL	TLAGSEFFLLATVAYDRYVAICHPL	1.0	9.0	unscreened	-	4320_1:248722429-248722429 T>C_TLAGSEFFLLATVAYDRYVAICHPL
22:18609544-18609544 T>G	1.0	4320	COLON	-	-	-	-	TUBA8	ENST00000416740,p.F291V|ENST00000330423,p.F267V|NM_001193414,p.F201V|NM_018943,p.F267V|uc002znv.2,p.F267V|uc021wkt.1,p.F201V|ENST00000316027,p.F201V|uc002znw.1,p.F291V	protein_coding	uc021wkt.1	nonsynonymous SNV	exon4	c.T601G	p.F201V	FQTNLVPYPRIHFPLVTYAPIISAE	FQTNLVPYPRIHVPLVTYAPIISAE	5.0	5.0	unscreened	-	4320_22:18609544-18609544 T>G_FQTNLVPYPRIHVPLVTYAPIISAE
6:34392907-34392907 T>G	1.0	4320	COLON	-	-	-	-	RPS10,RPS10-NUDT3	NM_001014,p.K31T|NM_001203245,p.K31T|ENST00000344700,p.K31T|uc003ojm.3,p.K31T|ENST00000326199,p.K31T|NM_001202470,p.K31T|ENST00000605528,p.K31T|uc021yyu.1,p.K31T|NM_001204091,p.K31T|uc021yyt.1,p.K31T|uc003ojn.3,p.K31T	protein_coding, processed_transcript	uc021yyu.1	nonsynonymous SNV	exon2	c.A92C	p.K31T	GVMVAKKDVHMPKHPELADKNVPNL	GVMVAKKDVHMPTHPELADKNVPNL	10.0	8.0	-	-	4320_6:34392907-34392907 T>G_GVMVAKKDVHMPTHPELADKNVPNL
X:47082985-47082985 A>G	1.0	4320	COLON	-	-	-	-	CDK16	uc011mli.2,p.Q16R|ENST00000457458,p.Q16R|NM_033018,p.Q16R|ENST00000520295,p.Q16R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011mli.2	nonsynonymous SNV	exon2	c.A47G	p.Q16R	EIAMDRMKKIKRQLSMTLRGGRGID	EIAMDRMKKIKRRLSMTLRGGRGID	10.0	1.0	-	-	4320_X:47082985-47082985 A>G_EIAMDRMKKIKRRLSMTLRGGRGID
X:47082985-47082985 A>G	1.0	4320	COLON	-	-	-	-	CDK16	NM_001170460,p.Q84R|ENST00000276052,p.Q84R|uc011mll.2,p.Q84R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011mll.2	nonsynonymous SNV	exon2	c.A251G	p.Q84R	QIAMDRMKKIKRQLSMTLRGGRGID	QIAMDRMKKIKRRLSMTLRGGRGID	10.0	1.0	-	-	4320_X:47082985-47082985 A>G_QIAMDRMKKIKRRLSMTLRGGRGID
2:237405910-237405910 C>T	0.0	4320	COLON	-	-	-	-	IQCA1	uc002vwb.3,p.G85R|uc010zni.2,p.G78R|NM_024726,p.G78R|NM_001270585,p.G85R|ENST00000254653,p.G78R|ENST00000431676,p.G78R|ENST00000409907,p.G78R|uc002vvz.2,p.G78R|ENST00000309507,p.G74R|NM_001270584,p.G78R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zni.2	nonsynonymous SNV	exon2	c.G232A	p.G78R	PQKRILIRKVLDGVMGRILELKNEM	PQKRILIRKVLDRVMGRILELKNEM	5.0	10.0	unscreened	-	4320_2:237405910-237405910 C>T_PQKRILIRKVLDRVMGRILELKNEM
19:46388552-46388552 A>C	0.0	4320	COLON	-	-	-	-	IRF2BP1	ENST00000302165,p.L161V|NM_015649,p.L161V|uc002pds.1,p.L161V	protein_coding	uc002pds.1	nonsynonymous SNV	exon1	c.T481G	p.L161V	GARRALLGSMPGLMPPGLLAAAVSG	GARRALLGSMPGVMPPGLLAAAVSG	6.0	3.0	-	-	4320_19:46388552-46388552 A>C_GARRALLGSMPGVMPPGLLAAAVSG
2:54874276-54874276 G>T	1.0	4320	COLON	-	-	-	-	SPTBN1	NM_003128,p.Q1625H|ENST00000333896,p.Q1612H|uc002rxu.3,p.Q1625H|NM_178313,p.Q1612H|ENST00000356805,p.Q1625H|uc002rxx.3,p.Q1612H	retained_intron, protein_coding	uc002rxx.3	nonsynonymous SNV	exon23	c.G4836T	p.Q1612H	LYMMSEEKAKDEQSAVSMLKKHQIL	LYMMSEEKAKDEHSAVSMLKKHQIL	10.0	10.0	-	-	4320_2:54874276-54874276 G>T_LYMMSEEKAKDEHSAVSMLKKHQIL
1:16583114-16583117 GTGA>-	1.0	4320	COLON	-	-	-	-	FBXO42	NM_018994,p.S214fs|ENST00000375592,p.S214fs|uc001ayf.3,p.S121fs|uc001ayg.3,p.S214fs	protein_coding, processed_transcript	uc001ayg.3	frameshift deletion	exon5	c.640_643del	p.S214fs	QPERFFDEIHTYSPSKNWWNCIVTT	QPERFFDEIHTYPLKIGGTAL	6.0	9.0	-	-	4320_1:16583114-16583117 GTGA>-_QPERFFDEIHTYPLKIGGTAL
1:197070249-197070249 T>G	1.0	4320	COLON	-	-	-	-	ASPM	uc001gtu.3,p.K2711T|uc001gtw.4,p.K559T|ENST00000367409,p.K2711T|NM_018136,p.K2711T	protein_coding	uc001gtw.4	nonsynonymous SNV	exon4	c.A1676C	p.K559T	YRMHRAKVDYETKKTAIVVIQNYYR	YRMHRAKVDYETTKTAIVVIQNYYR	7.0	2.0	-	-	4320_1:197070249-197070249 T>G_YRMHRAKVDYETTKTAIVVIQNYYR
2:179434078-179434078 A>C	0.0	4320	COLON	-	-	-	-	TTN	NM_133437,p.V16721G|ENST00000460472,p.V16529G|uc021vta.2,p.V16654G|ENST00000359218,p.V16654G|uc021vsz.2,p.V16721G|uc021vsy.2,p.V23026G|NM_003319,p.V16529G|ENST00000591111,p.V23953G|uc031rqc.1,p.V25594G|NM_001256850,p.V23953G|uc031rqd.1,p.V23953G|NM_133432,p.V16654G|ENST00000342992,p.V23026G|ENST00000342175,p.V16721G|ENST00000589042,p.V25594G|uc021vtb.2,p.V16529G|NM_133378,p.V23026G|NM_001267550,p.V25594G	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon276	c.T71858G	p.V23953G	TLENSSGTKSAFVTVRVLDTPSPPV	TLENSSGTKSAFGTVRVLDTPSPPV	5.0	8.0	unscreened	-	4320_2:179434078-179434078 A>C_TLENSSGTKSAFGTVRVLDTPSPPV
6:119514998-119514998 A>C	1.0	4320	COLON	-	-	-	-	MAN1A1	uc003pym.2,p.L424V|ENST00000368468,p.L424V|NM_005907,p.L424V	protein_coding	uc003pym.2	nonsynonymous SNV	exon9	c.T1270G	p.L424V	GDSFYEYLLKAWLMSDKTDLEAKKM	GDSFYEYLLKAWVMSDKTDLEAKKM	5.0	8.0	unscreened	-	4320_6:119514998-119514998 A>C_GDSFYEYLLKAWVMSDKTDLEAKKM
6:150267780-150267780 A>C	1.0	4320	COLON	-	-	-	-	ULBP2	NM_025217,p.S208R|ENST00000367351,p.S208R|uc003qno.3,p.S208R	protein_coding	uc003qno.3	nonsynonymous SNV	exon3	c.A622C	p.S208R	DFLMGMDSTLEPSAGAPLAMSSGTT	DFLMGMDSTLEPRAGAPLAMSSGTT	5.0	5.0	unscreened	-	4320_6:150267780-150267780 A>C_DFLMGMDSTLEPRAGAPLAMSSGTT
1:248616849-248616849 G>A	0.0	4320	COLON	-	-	-	-	OR2T2	uc001iek.1,p.V251I|ENST00000342927,p.V251I|NM_001004136,p.V251I	protein_coding	uc001iek.1	nonsynonymous SNV	exon1	c.G751A	p.V251I	FATCSSHIMVVSVFYGAAFYTNVLP	FATCSSHIMVVSIFYGAAFYTNVLP	4.0	2.0	unscreened	-	4320_1:248616849-248616849 G>A_FATCSSHIMVVSIFYGAAFYTNVLP
10:99644078-99644078 G>A	0.0	4320	COLON	-	-	-	-	CRTAC1	NM_018058,p.T506M|NM_001206528,p.T506M|ENST00000370591,p.T506M|uc001kou.2,p.T506M|uc001kot.2,p.T296M|uc001kov.3,p.T506M|ENST00000309155,p.T498M|ENST00000298819,p.T506M|ENST00000370597,p.T506M|ENST00000413387,p.T402M	protein_coding, processed_transcript	uc001kov.3	nonsynonymous SNV	exon12	c.C1517T	p.T506M	GLGKDEASSVEVTWPDGKMVSRNVA	GLGKDEASSVEVMWPDGKMVSRNVA	6.0	9.0	-	-	4320_10:99644078-99644078 G>A_GLGKDEASSVEVMWPDGKMVSRNVA
8:27255130-27255130 G>A	1.0	4320	COLON	0.0014	-	-	-	PTK2B	NM_173175,p.R10Q|ENST00000412793,p.R10Q|uc003xfq.2,p.R10Q|ENST00000420218,p.R10Q|uc003xfp.2,p.R10Q|uc003xfn.2,p.R10Q|NM_004103,p.R10Q|ENST00000522338,p.R10Q|NM_173174,p.R10Q|ENST00000397501,p.R10Q|ENST00000346049,p.R10Q|uc022ate.1,p.R10Q|NM_173176,p.R10Q|ENST00000544172,p.R10Q|ENST00000517339,p.R10Q|ENST00000522517,p.R10Q|ENST00000338238,p.R10Q|ENST00000521164,p.R10Q	retained_intron, protein_coding, processed_transcript	uc022ate.1	nonsynonymous SNV	exon3	c.G29A	p.R10Q	MSGVSEPLSRVKLGTLRRPEGP	MSGVSEPLSQVKLGTLRRPEGP	8.0	8.0	-	-	4320_8:27255130-27255130 G>A_MSGVSEPLSQVKLGTLRRPEGP
7:100647073-100647073 C>T	1.0	4320	COLON	-	-	-	-	MUC12	ENST00000379442,p.T4553M|NM_001164462,p.T4410M|ENST00000536621,p.T4410M|uc003uxo.3,p.T4410M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.C13229T	p.T4410M	ARSTTSGLVEESTTYHSSPGSTQTM	ARSTTSGLVEESMTYHSSPGSTQTM	1.0	7.0	unscreened	-	4320_7:100647073-100647073 C>T_ARSTTSGLVEESMTYHSSPGSTQTM
1:33764612-33764612 T>G	0.0	4320	COLON	-	-	-	-	ZNF362	NM_152493,p.S410A|ENST00000373428,p.S410A|uc001bxc.1,p.S410A|ENST00000539719,p.S410A	protein_coding, processed_transcript	uc001bxc.1	nonsynonymous SNV	exon9	c.T1228G	p.S410A	HLVSHHSPQRTESPGIPVRISLI	HLVSHHSPQRTEAPGIPVRISLI	7.0	3.0	-	-	4320_1:33764612-33764612 T>G_HLVSHHSPQRTEAPGIPVRISLI
5:39376117-39376117 A>T	1.0	4320	COLON	-	-	-	-	DAB2	ENST00000320816,p.F743L|uc003jlw.3,p.F722L|ENST00000339788,p.F525L|ENST00000509337,p.F722L|ENST00000545653,p.F722L|uc003jlx.3,p.F743L|NM_001343,p.F743L|NM_001244871,p.F722L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jlx.3	nonsynonymous SNV	exon13	c.T2229A	p.F743L	DNAFENPFFKDSFGSSQASVASSQP	DNAFENPFFKDSLGSSQASVASSQP	9.0	5.0	-	-	4320_5:39376117-39376117 A>T_DNAFENPFFKDSLGSSQASVASSQP
17:3301368-3301368 A>C	0.0	4320	COLON	-	-	-	-	OR1E1	ENST00000322608,p.F113V|uc002fvj.1,p.F113V|NM_003553,p.F113V	protein_coding	uc002fvj.1	nonsynonymous SNV	exon1	c.T337G	p.F113V	MYFFLLFGDLESFLLVAMAYDRYVA	MYFFLLFGDLESVLLVAMAYDRYVA	1.0	5.0	unscreened	-	4320_17:3301368-3301368 A>C_MYFFLLFGDLESVLLVAMAYDRYVA
3:148599418-148599418 A>C	0.0	4320	COLON	-	-	-	-	CPA3	NM_001870,p.K229T|ENST00000296046,p.K229T|uc003ewm.3,p.K229T	retained_intron, protein_coding	uc003ewm.3	nonsynonymous SNV	exon7	c.A686C	p.K229T	VFNVDGYIWSWTKNRMWRKNRSKNQ	VFNVDGYIWSWTTNRMWRKNRSKNQ	8.0	1.0	-	-	4320_3:148599418-148599418 A>C_VFNVDGYIWSWTTNRMWRKNRSKNQ
6:46107972-46107972 G>A	1.0	4320	COLON	-	-	-	-	ENPP4	ENST00000321037,p.V218I|NM_014936,p.V218I|uc003oxy.3,p.V218I	protein_coding	uc003oxy.3	nonsynonymous SNV	exon2	c.G652A	p.V218I	VLKKIDDLIGDLVQRLKMLGLWENL	VLKKIDDLIGDLIQRLKMLGLWENL	6.0	10.0	-	-	4320_6:46107972-46107972 G>A_VLKKIDDLIGDLIQRLKMLGLWENL
X:152031179-152031179 G>T	0.0	4320	COLON	-	-	-	-	NSDHL	uc004fgt.1,p.G152C|ENST00000432467,p.G152C|uc004fgs.1,p.G152C|ENST00000440023,p.G152C|NM_015922,p.G152C|ENST00000370274,p.G152C|NM_001129765,p.G152C	protein_coding	uc004fgt.1	nonsynonymous SNV	exon6	c.G454T	p.G152C	LILTSSASVIFEGVDIKNGTEDLPY	LILTSSASVIFECVDIKNGTEDLPY	9.0	6.0	-	-	4320_X:152031179-152031179 G>T_LILTSSASVIFECVDIKNGTEDLPY
12:85521804-85521804 T>A	0.0	4320	COLON	-	-	-	-	LRRIQ1	NM_001079910,p.L1401H|uc001tac.3,p.L1401H|ENST00000393217,p.L1401H	retained_intron, protein_coding, nonsense_mediated_decay	uc001tac.3	nonsynonymous SNV	exon18	c.T4202A	p.L1401H	VNIRKQREKAAILIQAVWKGFILRK	VNIRKQREKAAIHIQAVWKGFILRK	5.0	3.0	unscreened	-	4320_12:85521804-85521804 T>A_VNIRKQREKAAIHIQAVWKGFILRK
4:2254223-2254223 T>A	0.0	4320	COLON	-	-	-	-	MXD4	ENST00000337190,p.E74V|uc003geu.1,p.E74V|NM_006454,p.E74V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003geu.1	nonsynonymous SNV	exon4	c.A221T	p.E74V	EKHRRAKLRLYLEQLKQLVPLGPDS	EKHRRAKLRLYLVQLKQLVPLGPDS	6.0	6.0	-	-	4320_4:2254223-2254223 T>A_EKHRRAKLRLYLVQLKQLVPLGPDS
7:140058531-140058551 ACAGCCATTTGTTGTAGAAAC>-	0.0	4320	COLON	-	-	-	-	SLC37A3	ENST00000490760,p.42_48del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000490760	nonframeshift deletion	exon3	c.124_144del	p.42_48del	RCLSLVRSQNGCVSTTNGCTAACGL	RCLSLVRSQNGCTAACGL	9.0	1.0	unscreened	-	4320_7:140058531-140058551 ACAGCCATTTGTTGTAGAAAC>-_RCLSLVRSQNGCTAACGL
3:44685264-44685264 A>T	0.0	4320	COLON	-	-	-	-	ZNF197	ENST00000344387,p.K881I|ENST00000396058,p.K881I|NM_006991,p.K881I|uc003cnm.3,p.K881I	protein_coding, nonsense_mediated_decay	uc003cnm.3	nonsynonymous SNV	exon6	c.A2642T	p.K881I	SGEKTYECHVCRKVLTSSRNLMVHQ	SGEKTYECHVCRIVLTSSRNLMVHQ	6.0	4.0	-	-	4320_3:44685264-44685264 A>T_SGEKTYECHVCRIVLTSSRNLMVHQ
10:63851320-63851320 A>G	0.0	4320	COLON	-	-	-	-	ARID5B	uc001jlu.2,p.S457G|NM_001244638,p.S457G|NM_032199,p.S700G|ENST00000309334,p.S457G|uc001jlt.2,p.S700G|ENST00000279873,p.S700G	protein_coding	uc001jlu.2	nonsynonymous SNV	exon7	c.A1369G	p.S457G	SPLAKKKLLSQVSGASLSSSYPYGS	SPLAKKKLLSQVGGASLSSSYPYGS	7.0	2.0	-	-	4320_10:63851320-63851320 A>G_SPLAKKKLLSQVGGASLSSSYPYGS
1:149761670-149761670 T>C	0.0	4320	COLON	-	-	-	-	FCGR1A	ENST00000444948,p.L115P|NM_000566,p.L207P|ENST00000369168,p.L207P|uc001esp.4,p.L207P	protein_coding, processed_transcript	uc001esp.4	nonsynonymous SNV	exon5	c.T620C	p.L207P	NASVTSPLLEGNLVTLSCETKLLLQ	NASVTSPLLEGNPVTLSCETKLLLQ	8.0	4.0	-	-	4320_1:149761670-149761670 T>C_NASVTSPLLEGNPVTLSCETKLLLQ
8:27151790-27151790 T>C	1.0	4320	COLON	-	-	-	-	TRIM35	ENST00000305364,p.E190G|uc010lup.1,p.E158G|ENST00000521253,p.E158G|uc003xfl.1,p.E190G|NM_171982,p.E190G	retained_intron, protein_coding	uc010lup.1	nonsynonymous SNV	exon2	c.A473G	p.E158G	VEAAWLEGRIRQEFDKLREFLRVEE	VEAAWLEGRIRQGFDKLREFLRVEE	6.0	3.0	-	-	4320_8:27151790-27151790 T>C_VEAAWLEGRIRQGFDKLREFLRVEE
16:1748838-1748838 G>C	1.0	4320	COLON	-	-	-	-	HN1L	ENST00000566742,p.E138Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000566742	nonsynonymous SNV	exon5	c.G412C	p.E138Q	DLKAARSIPAGAEPEKSQLFRYTKE	DLKAARSIPAGAQPEKSQLFRYTKE	10.0	4.0	unscreened	-	4320_16:1748838-1748838 G>C_DLKAARSIPAGAQPEKSQLFRYTKE
13:32761692-32761692 G>C	1.0	4320	COLON	-	-	-	-	FRY	NM_023037,p.A1164P|uc001utx.3,p.A1164P|ENST00000380250,p.A1164P	protein_coding, processed_transcript, nonsense_mediated_decay	uc001utx.3	nonsynonymous SNV	exon28	c.G3490C	p.A1164P	TRYQYCALKAMSAVLCCGPVFDNVG	TRYQYCALKAMSPVLCCGPVFDNVG	6.0	9.0	-	-	4320_13:32761692-32761692 G>C_TRYQYCALKAMSPVLCCGPVFDNVG
X:18264838-18264838 T>G	0.0	4320	COLON	-	-	-	-	SCML2	uc010nfd.1,p.N561H|ENST00000251900,p.N561H|ENST00000398048,p.N297H|uc010nfc.2,p.N297H|uc011miz.1,p.N495H|NM_006089,p.N561H|uc004cyl.2,p.N561H	protein_coding, processed_transcript	uc011miz.1	nonsynonymous SNV	exon12	c.A1483C	p.N495H	LNSGNYLNPACRNPMYIHTSVSQDF	LNSGNYLNPACRHPMYIHTSVSQDF	5.0	2.0	unscreened	-	4320_X:18264838-18264838 T>G_LNSGNYLNPACRHPMYIHTSVSQDF
4:71389600-71389600 A>C	0.0	4320	COLON	-	-	-	-	AMTN	uc010ihy.1,p.S51R|ENST00000504451,p.S51R|uc003hfk.1,p.S52R|ENST00000339336,p.S52R|NM_001286731,p.S51R|NM_212557,p.S52R	protein_coding	uc010ihy.1	nonsynonymous SNV	exon4	c.A151C	p.S51R	NQQQSNQVFPSLSLIPLTQMLTLGP	NQQQSNQVFPSLRLIPLTQMLTLGP	3.0	2.0	unscreened	-	4320_4:71389600-71389600 A>C_NQQQSNQVFPSLRLIPLTQMLTLGP
15:81234372-81234372 A>C	1.0	4320	COLON	-	-	-	-	CEMIP	uc010unn.1,p.K1197T|ENST00000394685,p.K1197T|ENST00000220244,p.K1197T|NM_018689,p.K1197T|NM_001293298,p.K1197T|uc002bfw.1,p.K1197T|NM_001293304,p.K1197T|ENST00000356249,p.K1197T	retained_intron, protein_coding, nonsense_mediated_decay	uc010unn.1	nonsynonymous SNV	exon26	c.A3590C	p.K1197T	FTERAVVDVPMPKKLFGSQLKTKDH	FTERAVVDVPMPTKLFGSQLKTKDH	10.0	3.0	-	-	4320_15:81234372-81234372 A>C_FTERAVVDVPMPTKLFGSQLKTKDH
11:3688590-3688590 A>G	0.0	4320	COLON	-	-	-	-	CHRNA10	uc001lyf.3,p.L256P|uc010qxt.2,p.L50P|ENST00000250699,p.L256P|NM_020402,p.L256P|uc010qxu.2,p.L50P	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qxu.2	nonsynonymous SNV	exon4	c.T149C	p.L50P	LLPCVLISLLAPLAFHLPADSGEKV	LLPCVLISLLAPPAFHLPADSGEKV	4.0	4.0	unscreened	-	4320_11:3688590-3688590 A>G_LLPCVLISLLAPPAFHLPADSGEKV
1:17295696-17295696 A>T	0.0	4320	COLON	-	-	-	-	CROCC	NM_014675,p.E1721V|uc001azv.2,p.E57V|uc001azu.2,p.E1024V|ENST00000375541,p.E1721V|uc001azt.2,p.E1721V	protein_coding, processed_transcript	uc001azv.2	nonsynonymous SNV	exon1	c.A170T	p.E57V	RLNGALAKVEESEGALRDKVRGLTE	RLNGALAKVEESVGALRDKVRGLTE	6.0	3.0	-	-	4320_1:17295696-17295696 A>T_RLNGALAKVEESVGALRDKVRGLTE
5:140764573-140764573 G>A	1.0	4320	COLON	-	-	ID=COSM308108;OCCURENCE=1(urinary_tract),1(biliary_tract)	-	PCDHGA7	NM_018920,p.V703I|NM_032087,p.V703I|ENST00000518325,p.V703I|uc003lka.2,p.V703I|uc003ljz.1,p.V703I	protein_coding	uc003lka.2	nonsynonymous SNV	exon1	c.G2107A	p.V703I	LYLVVAVATVSCVFLAFVLVLLALR	LYLVVAVATVSCIFLAFVLVLLALR	4.0	10.0	unscreened	-	4320_5:140764573-140764573 G>A_LYLVVAVATVSCIFLAFVLVLLALR
1:19183994-19183994 G>A	0.0	4320	COLON	-	-	-	-	TAS1R2	ENST00000375371,p.S105F|NM_152232,p.S105F|uc001bba.1,p.S105F	protein_coding	uc001bba.1	nonsynonymous SNV	exon2	c.C314T	p.S105F	LLGYEIVDVCYISNNVQPVLYFLAH	LLGYEIVDVCYIFNNVQPVLYFLAH	1.0	10.0	unscreened	-	4320_1:19183994-19183994 G>A_LLGYEIVDVCYIFNNVQPVLYFLAH
X:152710878-152710878 G>A	0.0	4320	COLON	-	-	-	-	TREX2	ENST00000370232,p.A47V|uc010nue.2,p.A46V|ENST00000414588,p.A46V|ENST00000402951,p.A47V|ENST00000334497,p.A47V	protein_coding	uc010nue.2	nonsynonymous SNV	exon3	c.C137T	p.A46V	TCYPRGNITMSEAPRAETFVFLDLE	TCYPRGNITMSEVPRAETFVFLDLE	2.0	6.0	unscreened	-	4320_X:152710878-152710878 G>A_TCYPRGNITMSEVPRAETFVFLDLE
11:123893738-123893738 G>A	0.0	4320	COLON	-	-	ID=COSM3979240;OCCURENCE=1(lung)	-	OR10G9	NM_001001953,p.V7M|ENST00000375024,p.V7M|uc010sad.2,p.V7M	protein_coding	uc010sad.2	nonsynonymous SNV	exon1	c.G19A	p.V7M	MSKTSLVTAFILTGLPHAP	MSKTSLMTAFILTGLPHAP	1.0	10.0	unscreened	-	4320_11:123893738-123893738 G>A_MSKTSLMTAFILTGLPHAP
5:140503423-140503423 G>T	0.0	4320	COLON	-	-	-	-	PCDHB4	ENST00000194152,p.G615C|NM_018938,p.G615C|uc003lip.1,p.G615C	protein_coding	uc003lip.1	nonsynonymous SNV	exon1	c.G1843T	p.G615C	YQLLKATEPGLFGVWAHNGEVRTAR	YQLLKATEPGLFCVWAHNGEVRTAR	5.0	7.0	unscreened	-	4320_5:140503423-140503423 G>T_YQLLKATEPGLFCVWAHNGEVRTAR
11:125703288-125703288 T>G	0.0	4320	COLON	-	-	-	-	PATE4	ENST00000534411,p.L12V	protein_coding, processed_transcript	ENST00000534411	nonsynonymous SNV	exon1	c.T34G	p.L12V	MRKMNTLLLVSLSFLYLKEGDKHM	MRKMNTLLLVSVSFLYLKEGDKHM	1.0	6.0	unscreened	-	4320_11:125703288-125703288 T>G_MRKMNTLLLVSVSFLYLKEGDKHM
11:5475617-5475617 G>A	0.0	4320	COLON	-	-	-	-	OR51I2	NM_001004754,p.R300H|uc010qzf.2,p.R300H|ENST00000341449,p.R300H	protein_coding	uc010qzf.2	nonsynonymous SNV	exon1	c.G899A	p.R300H	NPLIYSAKTKEIRRAIFRMFHHIKI	NPLIYSAKTKEIHRAIFRMFHHIKI	1.0	9.0	unscreened	-	4320_11:5475617-5475617 G>A_NPLIYSAKTKEIHRAIFRMFHHIKI
12:108620908-108620908 A>G	0.0	4320	COLON	-	-	-	-	WSCD2	ENST00000549903,p.S316G|uc001tms.3,p.S316G|ENST00000332082,p.S316G|ENST00000547525,p.S316G|ENST00000261400,p.S316G|uc001tmu.3,p.S64G|uc001tmt.3,p.S316G|NM_014653,p.S316G	retained_intron, protein_coding, processed_transcript	uc001tmu.3	nonsynonymous SNV	exon2	c.A190G	p.S64G	CSAEEFESCGTPSYFIVYQTQVQDN	CSAEEFESCGTPGYFIVYQTQVQDN	1.0	3.0	unscreened	-	4320_12:108620908-108620908 A>G_CSAEEFESCGTPGYFIVYQTQVQDN
X:154215544-154215544 T>G	0.0	4320	COLON	-	-	-	-	F8	uc004fmt.3,p.K213T|ENST00000360256,p.K213T|NM_000132,p.K213T|ENST00000423959,p.K178T	protein_coding, processed_transcript	uc004fmt.3	nonsynonymous SNV	exon5	c.A638C	p.K213T	GSLAKEKTQTLHKFILLFAVFDEGK	GSLAKEKTQTLHTFILLFAVFDEGK	4.0	3.0	unscreened	-	4320_X:154215544-154215544 T>G_GSLAKEKTQTLHTFILLFAVFDEGK
5:140731553-140731553 C>T	1.0	4320	COLON	-	-	ID=COSM205221;OCCURENCE=1(large_intestine)	-	PCDHGB1	ENST00000523390,p.R576C|uc011daq.2,p.R576C|uc003ljo.2,p.R576C|NM_018922,p.R576C|NM_032095,p.R576C	protein_coding	uc011daq.2	nonsynonymous SNV	exon1	c.C1726T	p.R576C	GPDGSALFDMVPRAAEPGYLVTKVV	GPDGSALFDMVPCAAEPGYLVTKVV	3.0	8.0	unscreened	-	4320_5:140731553-140731553 C>T_GPDGSALFDMVPCAAEPGYLVTKVV
17:7691241-7691241 G>A	0.0	4320	COLON	-	-	-	-	DNAH2	ENST00000572933,p.G2223R|uc002giu.1,p.G2223R|NM_020877,p.G2223R|ENST00000389173,p.G2223R	retained_intron, protein_coding, nonsense_mediated_decay	uc002giu.1	nonsynonymous SNV	exon42	c.G6667A	p.G2223R	LAMASPATVSRCGMVYTDYADLGWK	LAMASPATVSRCRMVYTDYADLGWK	5.0	10.0	unscreened	-	4320_17:7691241-7691241 G>A_LAMASPATVSRCRMVYTDYADLGWK
4:151023936-151023936 A>G	1.0	4320	COLON	-	-	-	-	DCLK2	uc003ilo.4,p.K243R|ENST00000296550,p.K243R|ENST00000411937,p.K243R|uc003ilm.4,p.K243R|NM_001040261,p.K243R|NM_001040260,p.K243R|ENST00000302176,p.K243R|ENST00000506325,p.K243R	protein_coding, processed_transcript, nonsense_mediated_decay	uc003ilo.4	nonsynonymous SNV	exon2	c.A728G	p.K243R	ITEAIKLDSGVVKRLCTLDGKQVTC	ITEAIKLDSGVVRRLCTLDGKQVTC	5.0	8.0	unscreened	-	4320_4:151023936-151023936 A>G_ITEAIKLDSGVVRRLCTLDGKQVTC
1:178269233-178269233 C>A	1.0	4320	COLON	-	-	-	-	RASAL2	uc001glq.3,p.P146Q|ENST00000448150,p.P128Q|ENST00000367649,p.P146Q|NM_170692,p.P146Q|uc009wxb.2,p.P146Q	retained_intron, protein_coding, processed_transcript	uc009wxb.2	nonsynonymous SNV	exon3	c.C437A	p.P146Q	SVPSEGQFPEYPPEGATKLEVPAER	SVPSEGQFPEYPQEGATKLEVPAER	7.0	4.0	-	-	4320_1:178269233-178269233 C>A_SVPSEGQFPEYPQEGATKLEVPAER
3:194365391-194365391 T>C	1.0	4320	COLON	-	-	-	-	LSG1	ENST00000265245,p.M570V|NM_018385,p.M570V|uc003fui.3,p.M570V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003fui.3	nonsynonymous SNV	exon13	c.A1708G	p.M570V	FQHQHQRLLENKMNSDEIKMQLGRN	FQHQHQRLLENKVNSDEIKMQLGRN	9.0	8.0	-	-	4320_3:194365391-194365391 T>C_FQHQHQRLLENKVNSDEIKMQLGRN
9:138011526-138011526 ->ATT	0.0	4320	COLON	-	-	-	-	OLFM1	NM_014279,p.I302delinsII|ENST00000371793,p.I320delinsII|NM_001282612,p.I293delinsII|uc004cfl.4,p.I302delinsII|uc010nar.3,p.I320delinsII|ENST00000252854,p.I302delinsII|uc004cfn.4,p.I71delinsII|ENST00000371796,p.I293delinsII|NM_001282611,p.I320delinsII	retained_intron, protein_coding	uc010nar.3	nonframeshift insertion	exon6	c.960_961insATT	p.I320delinsII	GSIYFNKFQSHIIIRFDLKTETILK	GSIYFNKFQSHIIIIRFDLKTETIL	5.0	7.0	unscreened	-	4320_9:138011526-138011526 ->ATT_GSIYFNKFQSHIIIIRFDLKTETIL
5:112175951-112175951 ->A	1.0	4320	COLON	-	-	ID=COSM19695;OCCURENCE=3(stomach),1(oesophagus),50(large_intestine),1(liver)	1	APC	uc003kpy.4,p.E1554fs|uc010jbz.3,p.E1271fs|ENST00000257430,p.E1554fs|NM_000038,p.E1554fs|uc003kpz.4,p.E1554fs|NM_001127510,p.E1554fs|ENST00000457016,p.E1554fs|uc011cvt.2,p.E1536fs|uc010jca.3,p.E854fs|ENST00000508376,p.E1554fs|NM_001127511,p.E1536fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cvt.2	frameshift insertion	exon14	c.4607dupA	p.E1536fs	PKESNENQEKEAEKTIDSEKDLLDD	PKESNENQEKEAEKNY	8.0	10.0	-	-	4320_5:112175951-112175951 ->A_PKESNENQEKEAEKNY
1:186280605-186280605 A>G	0.0	4320	COLON	-	-	-	-	PRG4	ENST00000367483,p.K1183E|ENST00000367484,p.K753E|uc009wyl.3,p.K1131E|uc001gru.4,p.K1224E|NM_001127708,p.K1183E|uc001grt.4,p.K1183E|NM_005807,p.K1224E|NM_001127709,p.K1131E|ENST00000367485,p.K1131E|ENST00000367486,p.K1181E|ENST00000445192,p.K1224E|NM_001127710,p.K1090E|uc009wym.3,p.K1090E	protein_coding	uc009wym.3	nonsynonymous SNV	exon7	c.A3268G	p.K1090E	KDSQYWRFTNDIKDAGYPKPIFKGF	KDSQYWRFTNDIEDAGYPKPIFKGF	5.0	9.0	unscreened	-	4320_1:186280605-186280605 A>G_KDSQYWRFTNDIEDAGYPKPIFKGF
5:32712316-32712316 G>A	0.0	4320	COLON	-	-	-	-	NPR3	ENST00000265074,p.R145Q|NM_000908,p.R145Q|ENST00000415167,p.R145Q|uc003jhu.3,p.R145Q|uc003jhv.3,p.R145Q|NM_001204375,p.R145Q	retained_intron, protein_coding	uc003jhv.3	nonsynonymous SNV	exon1	c.G434A	p.R145Q	GPVCEYAAAPVARLASHWDLPMLSA	GPVCEYAAAPVAQLASHWDLPMLSA	5.0	9.0	unscreened	-	4320_5:32712316-32712316 G>A_GPVCEYAAAPVAQLASHWDLPMLSA
19:52538108-52538108 C>T	1.0	4320	COLON	-	-	-	-	ZNF432	NM_014650,p.R275H|ENST00000221315,p.R275H|ENST00000594154,p.R275H|uc002pyk.3,p.R275H	protein_coding, processed_transcript	uc002pyk.3	nonsynonymous SNV	exon5	c.G824A	p.R275H	CSECGKVFTMKSRLIEHQRTHTGEK	CSECGKVFTMKSHLIEHQRTHTGEK	6.0	9.0	-	-	4320_19:52538108-52538108 C>T_CSECGKVFTMKSHLIEHQRTHTGEK
1:237798291-237798291 A>C	0.0	4320	COLON	-	-	-	-	RYR2	ENST00000542537,p.K2248T|NM_001035,p.K2264T|ENST00000366574,p.K2264T|uc001hyl.1,p.K2264T|ENST00000360064,p.K2262T	protein_coding, processed_transcript	uc001hyl.1	nonsynonymous SNV	exon44	c.A6791C	p.K2264T	ELALALREPDLEKVVRYLAGCGLQS	ELALALREPDLETVVRYLAGCGLQS	5.0	2.0	unscreened	-	4320_1:237798291-237798291 A>C_ELALALREPDLETVVRYLAGCGLQS
X:34150358-34150358 G>A	0.0	4320	COLON	-	-	-	-	FAM47A	ENST00000346193,p.P13L|uc004ddg.3,p.P13L|NM_203408,p.P13L	protein_coding	uc004ddg.3	nonsynonymous SNV	exon1	c.C38T	p.P13L	MGDQRLQDWLRSPGMDSKPWYCNKR	MGDQRLQDWLRSLGMDSKPWYCNKR	1.0	10.0	unscreened	-	4320_X:34150358-34150358 G>A_MGDQRLQDWLRSLGMDSKPWYCNKR
12:47163147-47163147 A>C	0.0	4320	COLON	-	-	-	-	SLC38A4	ENST00000447411,p.L455R|uc001rpi.2,p.L455R|ENST00000266579,p.L455R|NM_018018,p.L455R|NM_001143824,p.L455R|uc001rpj.2,p.L455R	protein_coding	uc001rpj.2	nonsynonymous SNV	exon14	c.T1364G	p.L455R	FPKRPFSWIRHFLIAAVLIALNNVL	FPKRPFSWIRHFRIAAVLIALNNVL	3.0	2.0	unscreened	-	4320_12:47163147-47163147 A>C_FPKRPFSWIRHFRIAAVLIALNNVL
20:62729364-62729364 G>A	0.0	4320	COLON	-	-	ID=COSM2933167;OCCURENCE=1(breast)	-	OPRL1	NM_001200019,p.R148H|ENST00000355631,p.R148H|NM_000913,p.R148H|ENST00000336866,p.R148H|NM_182647,p.R148H|uc002yid.3,p.R148H|uc002yic.3,p.R148H|uc002yif.4,p.R143H|uc021wgs.1,p.R148H|ENST00000349451,p.R148H	protein_coding	uc021wgs.1	nonsynonymous SNV	exon5	c.G443A	p.R148H	TSTFTLTAMSVDRYVAICHPIRALD	TSTFTLTAMSVDHYVAICHPIRALD	1.0	6.0	unscreened	-	4320_20:62729364-62729364 G>A_TSTFTLTAMSVDHYVAICHPIRALD
4:88533612-88533612 A>G	0.0	4320	COLON	-	-	-	-	DSPP	ENST00000282478,p.S92G|uc003hqu.3,p.S92G|ENST00000399271,p.S92G|NM_014208,p.S92G	protein_coding	uc003hqu.3	nonsynonymous SNV	exon4	c.A274G	p.S92G	GNGSKWAEVGGKSFSTYSTLANEEG	GNGSKWAEVGGKGFSTYSTLANEEG	1.0	3.0	unscreened	-	4320_4:88533612-88533612 A>G_GNGSKWAEVGGKGFSTYSTLANEEG
4:169085426-169085426 A>C	0.0	4320	COLON	-	-	-	-	ANXA10	ENST00000359299,p.E129D|uc003irm.3,p.E129D|NM_007193,p.E129D	retained_intron, protein_coding	uc003irm.3	nonsynonymous SNV	exon5	c.A387C	p.E129D	ASRTNGEIFQMREAYCLQYSNNLQE	ASRTNGEIFQMRDAYCLQYSNNLQE	2.0	5.0	unscreened	-	4320_4:169085426-169085426 A>C_ASRTNGEIFQMRDAYCLQYSNNLQE
6:158551473-158551473 T>A	1.0	4320	COLON	-	-	-	-	SERAC1	ENST00000367102,p.S262C|NM_032861,p.S262C|ENST00000367101,p.S262C|ENST00000367104,p.S262C|uc003qrc.2,p.S262C	protein_coding	uc003qrc.2	nonsynonymous SNV	exon9	c.A784T	p.S262C	WCFGGNGLPYAESFGEVPSATVEMF	WCFGGNGLPYAECFGEVPSATVEMF	6.0	6.0	-	-	4320_6:158551473-158551473 T>A_WCFGGNGLPYAECFGEVPSATVEMF
1:152130321-152130321 G>T	0.0	4320	COLON	-	-	-	-	RPTN	ENST00000316073,p.F15L|NM_001122965,p.F15L|uc001ezs.1,p.F15L	protein_coding	uc001ezs.1	nonsynonymous SNV	exon2	c.C45A	p.F15L	QLLNSILSVIDVFHKYAKGNGDCAL	QLLNSILSVIDVLHKYAKGNGDCAL	1.0	2.0	unscreened	-	4320_1:152130321-152130321 G>T_QLLNSILSVIDVLHKYAKGNGDCAL
2:172196005-172196005 T>G	1.0	4320	COLON	-	-	-	-	METTL8	ENST00000375258,p.K99Q|uc002ugu.4,p.K99Q|ENST00000447486,p.K49Q|ENST00000442778,p.K99Q|ENST00000392599,p.K99Q|uc010zdp.2,p.K54Q|ENST00000392604,p.K99Q|uc002ugs.4,p.K49Q|uc002ugt.4,p.K99Q|uc010zdo.2,p.K99Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zdp.2	nonsynonymous SNV	exon3	c.A160C	p.K54Q	KYWDTFYKIHKNKFFKDRNWLLREF	KYWDTFYKIHKNQFFKDRNWLLREF	7.0	6.0	-	-	4320_2:172196005-172196005 T>G_KYWDTFYKIHKNQFFKDRNWLLREF
7:143701430-143701430 T>C	0.0	4320	COLON	-	-	-	-	OR6B1	NM_001005281,p.L114P|uc003wdt.1,p.L114P|ENST00000408922,p.L114P	protein_coding	uc003wdt.1	nonsynonymous SNV	exon1	c.T341C	p.L114P	YFFIALMCTECVLLAAMAYDRYVAI	YFFIALMCTECVPLAAMAYDRYVAI	1.0	4.0	unscreened	-	4320_7:143701430-143701430 T>C_YFFIALMCTECVPLAAMAYDRYVAI
11:125703288-125703288 T>G	0.0	4320	COLON	-	-	-	-	PATE4	NM_001144874,p.L12V|uc001qcv.3,p.L12V|ENST00000457514,p.L12V	protein_coding, processed_transcript	uc001qcv.3	nonsynonymous SNV	exon1	c.T34G	p.L12V	MRKMNTLLLVSLSFLYLKEVMGLK	MRKMNTLLLVSVSFLYLKEVMGLK	1.0	6.0	unscreened	-	4320_11:125703288-125703288 T>G_MRKMNTLLLVSVSFLYLKEVMGLK
5:140517138-140517138 G>A	0.0	4320	COLON	-	-	-	-	PCDHB5	NM_015669,p.V708M|ENST00000231134,p.V708M|uc003liq.3,p.V708M	protein_coding	uc003liq.3	nonsynonymous SNV	exon1	c.G2122A	p.V708M	VSSLFLFSVLLFVAVRLCRRSRAAS	VSSLFLFSVLLFMAVRLCRRSRAAS	4.0	3.0	unscreened	-	4320_5:140517138-140517138 G>A_VSSLFLFSVLLFMAVRLCRRSRAAS
17:3119693-3119693 G>A	0.0	4320	COLON	-	-	-	-	OR1A1	ENST00000304094,p.R260H|uc010vrc.2,p.R260H|NM_014565,p.R260H	protein_coding	uc010vrc.2	nonsynonymous SNV	exon1	c.G779A	p.R260H	SLYYGTVMGTYFRPLTNYSLKDAVI	SLYYGTVMGTYFHPLTNYSLKDAVI	1.0	8.0	unscreened	-	4320_17:3119693-3119693 G>A_SLYYGTVMGTYFHPLTNYSLKDAVI
8:124154517-124154517 T>G	0.0	4320	COLON	-	-	ID=COSM1454622;OCCURENCE=1(large_intestine)	-	TBC1D31	uc011lih.2,p.L776V|ENST00000518805,p.L440V|ENST00000522420,p.L781V|ENST00000287380,p.L886V|uc003ypp.2,p.L886V|ENST00000521676,p.L763V|uc003yps.2,p.L520V|NM_145647,p.L886V	retained_intron, protein_coding, nonsense_mediated_decay	uc011lih.2	nonsynonymous SNV	exon18	c.T2326G	p.L776V	QSQKTQKVIKENLAKAEQACLNTDW	QSQKTQKVIKENVAKAEQACLNTDW	6.0	1.0	-	-	4320_8:124154517-124154517 T>G_QSQKTQKVIKENVAKAEQACLNTDW
7:99367804-99367804 C>G	0.0	4320	COLON	-	-	-	-	CYP3A4	NM_001202855,p.E125Q|ENST00000415003,p.E138Q|ENST00000336411,p.E125Q|NM_017460,p.E125Q|uc003urv.2,p.E125Q|uc003urw.2,p.E125Q	retained_intron, protein_coding	uc003urw.2	nonsynonymous SNV	exon5	c.G373C	p.E125Q	FMKSAISIAEDEEWKRLRSLLSPTF	FMKSAISIAEDEQWKRLRSLLSPTF	6.0	8.0	-	-	4320_7:99367804-99367804 C>G_FMKSAISIAEDEQWKRLRSLLSPTF
4:125591242-125591242 A>C	1.0	4320	COLON	-	-	-	-	ANKRD50	ENST00000504087,p.L1064V|NM_020337,p.L1064V|ENST00000515641,p.L885V|uc011cgo.2,p.L885V|uc010inw.3,p.L1064V|NM_001167882,p.L885V	protein_coding	uc011cgo.2	nonsynonymous SNV	exon3	c.T2653G	p.L885V	AAQEGHIDVVQVLLEHGADPNHADQ	AAQEGHIDVVQVVLEHGADPNHADQ	6.0	6.0	-	-	4320_4:125591242-125591242 A>C_AAQEGHIDVVQVVLEHGADPNHADQ
19:16593319-16593319 G>A	0.0	4320	COLON	-	-	ID=COSM3764704;OCCURENCE=1(central_nervous_system)	-	CALR3	uc002ned.3,p.T287M|NM_145046,p.T287M|ENST00000269881,p.T287M	protein_coding, processed_transcript	uc002ned.3	nonsynonymous SNV	exon7	c.C860T	p.T287M	WLHRKMKNTDYLTQYDLSEFENIGA	WLHRKMKNTDYLMQYDLSEFENIGA	1.0	9.0	unscreened	-	4320_19:16593319-16593319 G>A_WLHRKMKNTDYLMQYDLSEFENIGA
10:106075566-106075566 T>C	0.0	4320	COLON	-	-	-	-	ITPRIP	ENST00000458723,p.T82A|uc001kyg.4,p.T82A|NM_001272013,p.T82A|ENST00000337478,p.T82A|ENST00000278071,p.T82A|ENST00000358187,p.T82A|uc001kye.4,p.T82A|uc021pxv.1,p.T82A|uc001kyf.4,p.T82A|NM_033397,p.T82A|NM_001272012,p.T82A	protein_coding, processed_transcript	uc021pxv.1	nonsynonymous SNV	exon1	c.A244G	p.T82A	EQVAEEGRQQNETRVAWDLWSTLCM	EQVAEEGRQQNEARVAWDLWSTLCM	4.0	5.0	unscreened	-	4320_10:106075566-106075566 T>C_EQVAEEGRQQNEARVAWDLWSTLCM
6:56485348-56485348 G>A	1.0	4320	COLON	-	-	-	-	DST	uc003pdc.4,p.P1162S|ENST00000370765,p.P1162S|NM_001723,p.P1162S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pdc.4	nonsynonymous SNV	exon23	c.C3484T	p.P1162S	LKKQKSRVEEELPKVREAAENELRK	LKKQKSRVEEELSKVREAAENELRK	9.0	9.0	-	-	4320_6:56485348-56485348 G>A_LKKQKSRVEEELSKVREAAENELRK
3:77666888-77666888 C>T	0.0	4320	COLON	-	-	-	2	ROBO2	uc011bgk.2,p.T1177I|ENST00000487694,p.T1189I|ENST00000332191,p.T1173I|NM_001290039,p.T1177I|uc003dpy.4,p.T1173I|uc011bgj.3,p.T580I|uc003dqa.3,p.T300I|uc003dpz.3,p.T1177I|NM_001290065,p.T580I|NM_002942,p.T1173I|NM_001290040,p.T1177I|ENST00000461745,p.T1173I|uc021xat.1,p.T1189I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xat.1	nonsynonymous SNV	exon22	c.C3566T	p.T1189I	MQPMLQAHLDELTRAYQFDIAKQTW	MQPMLQAHLDELIRAYQFDIAKQTW	4.0	2.0	unscreened	-	4320_3:77666888-77666888 C>T_MQPMLQAHLDELIRAYQFDIAKQTW
17:61766210-61766210 C>G	0.0	4320	COLON	-	-	-	-	MAP3K3	uc002jbg.3,p.H280Q|uc002jbh.3,p.H307Q|uc010wpo.2,p.H195Q|NM_203351,p.H311Q|ENST00000577395,p.H276Q|uc010wpp.2,p.H276Q|ENST00000361733,p.H280Q|ENST00000579585,p.H311Q|ENST00000361357,p.H311Q|uc002jbf.3,p.H311Q|uc002jbe.3,p.H311Q|NM_002401,p.H280Q|ENST00000584573,p.H307Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wpp.2	nonsynonymous SNV	exon10	c.C828G	p.H276Q	KGVKGGTYPRRYHVSVHHKDYSDGR	KGVKGGTYPRRYQVSVHHKDYSDGR	7.0	1.0	-	-	4320_17:61766210-61766210 C>G_KGVKGGTYPRRYQVSVHHKDYSDGR
11:4470882-4470882 T>G	0.0	4320	COLON	-	-	-	-	OR52K2	NM_001005172,p.F105V|uc001lyz.2,p.F105V|ENST00000325719,p.F105V	protein_coding	uc001lyz.2	nonsynonymous SNV	exon1	c.T313G	p.F105V	EINFFACLAQMFFLHSFSIMESAVL	EINFFACLAQMFVLHSFSIMESAVL	1.0	4.0	unscreened	-	4320_11:4470882-4470882 T>G_EINFFACLAQMFVLHSFSIMESAVL
15:72192104-72192104 T>G	1.0	4320	COLON	-	-	-	-	MYO9A	uc010biq.4,p.S752R|ENST00000424560,p.S1132R|ENST00000356056,p.S1132R|ENST00000564571,p.S1132R|uc002atl.5,p.S1132R|ENST00000566885,p.S752R|uc002atn.1,p.S1113R|ENST00000444904,p.S1113R|NM_006901,p.S1132R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010biq.4	nonsynonymous SNV	exon22	c.A2254C	p.S752R	ICIQARWKAYRESKRYQEQRKKIIL	ICIQARWKAYRERKRYQEQRKKIIL	8.0	3.0	-	-	4320_15:72192104-72192104 T>G_ICIQARWKAYRERKRYQEQRKKIIL
17:36876068-36876068 A>G	1.0	4320	COLON	-	-	-	1	MLLT6	uc002hqi.4,p.Q692R|uc002hqj.3,p.Q127R|NM_005937,p.Q692R|uc002hqk.4,p.Q23R|ENST00000325718,p.Q692R	retained_intron, protein_coding, processed_transcript	uc002hqk.4	nonsynonymous SNV	exon2	c.A68G	p.Q23R	FDQTASAPCGGGQLDPAAPGTTNME	FDQTASAPCGGGRLDPAAPGTTNME	9.0	2.0	-	-	4320_17:36876068-36876068 A>G_FDQTASAPCGGGRLDPAAPGTTNME
2:51255311-51255311 G>A	0.0	4320	COLON	-	-	-	-	NRXN1	ENST00000405581,p.P34L|uc021vhi.1,p.P34L|NM_004801,p.P34L|ENST00000406859,p.P34L|ENST00000406316,p.P34L|NM_001135659,p.P34L|ENST00000405472,p.P34L|ENST00000401669,p.P34L|uc021vhj.1,p.P34L|ENST00000404971,p.P34L|ENST00000402717,p.P34L|uc021vhk.1,p.P34L|uc021vhh.1,p.P34L|uc021vhg.1,p.P34L	retained_intron, protein_coding, processed_transcript	uc021vhk.1	nonsynonymous SNV	exon2	c.C101T	p.P34L	GCWAELGSGLEFPGAEGQWTRFPKW	GCWAELGSGLEFLGAEGQWTRFPKW	1.0	9.0	unscreened	-	4320_2:51255311-51255311 G>A_GCWAELGSGLEFLGAEGQWTRFPKW
6:74533329-74533329 T>G	0.0	4320	COLON	-	-	-	-	CD109	NM_001159587,p.L1420R|uc003phq.3,p.L1420R|ENST00000422508,p.L1360R|ENST00000287097,p.L1437R|uc003php.3,p.L1437R|uc010kba.3,p.L1360R|ENST00000437994,p.L1420R|NM_001159588,p.L1360R|NM_133493,p.L1437R	protein_coding, processed_transcript	uc010kba.3	nonsynonymous SNV	exon32	c.T4079G	p.L1360R	HHSSVIFIFCFKLLYFMELWL	HHSSVIFIFCFKRLYFMELWL	5.0	4.0	unscreened	-	4320_6:74533329-74533329 T>G_HHSSVIFIFCFKRLYFMELWL
8:133900677-133900677 A>C	0.0	4320	COLON	-	-	-	-	TG	ENST00000377869,p.Q875H|NM_003235,p.Q875H|ENST00000220616,p.Q875H|uc003ytw.3,p.Q875H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ytw.3	nonsynonymous SNV	exon10	c.A2625C	p.Q875H	LEPYLFWQILNGQLSQYPGSYSDFS	LEPYLFWQILNGHLSQYPGSYSDFS	5.0	7.0	unscreened	-	4320_8:133900677-133900677 A>C_LEPYLFWQILNGHLSQYPGSYSDFS
2:49190953-49190953 T>G	0.0	4320	COLON	-	-	-	-	FSHR	NM_000145,p.D336A|ENST00000406846,p.D336A|uc002rww.3,p.D336A|ENST00000304421,p.D310A|NM_181446,p.D310A|uc002rwx.3,p.D274A|uc010fbn.3,p.D310A|ENST00000541117,p.D72A|ENST00000346173,p.D274A	protein_coding, processed_transcript, nonsense_mediated_decay	uc010fbn.3	nonsynonymous SNV	exon9	c.A929C	p.D310A	RGFDMTYTEFDYDLCNEVVDVTCSP	RGFDMTYTEFDYALCNEVVDVTCSP	1.0	1.0	unscreened	-	4320_2:49190953-49190953 T>G_RGFDMTYTEFDYALCNEVVDVTCSP
2:179468793-179468793 T>G	1.0	4320	COLON	-	-	-	-	TTN	uc021vtb.2,p.E9142D|ENST00000591111,p.E16566D|ENST00000342992,p.E15639D|NM_133437,p.E9334D|ENST00000589042,p.E18207D|uc021vta.2,p.E9267D|NM_133432,p.E9267D|ENST00000359218,p.E9267D|NM_001267550,p.E18207D|NM_003319,p.E9142D|uc031rqc.1,p.E18207D|uc031rqd.1,p.E16566D|NM_133378,p.E15639D|uc021vsy.2,p.E15639D|ENST00000460472,p.E9142D|ENST00000342175,p.E9334D|NM_001256850,p.E16566D|uc021vsz.2,p.E9334D	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon232	c.A49698C	p.E16566D	GSPITGYWLEKREEGSPYWSRVSRA	GSPITGYWLEKRDEGSPYWSRVSRA	5.0	5.0	unscreened	-	4320_2:179468793-179468793 T>G_GSPITGYWLEKRDEGSPYWSRVSRA
4:110749277-110749277 T>G	0.0	4320	COLON	-	-	-	-	RRH	NM_006583,p.L32V|ENST00000317735,p.L32V|uc003hzv.3,p.L32V	protein_coding	uc003hzv.3	nonsynonymous SNV	exon1	c.T94G	p.L32V	FSQTEHNIVATYLIMAGMISIISNI	FSQTEHNIVATYVIMAGMISIISNI	3.0	1.0	unscreened	-	4320_4:110749277-110749277 T>G_FSQTEHNIVATYVIMAGMISIISNI
2:74326605-74326605 A>C	1.0	4320	COLON	-	-	-	-	TET3	uc002skb.5,p.K1157T|ENST00000409262,p.K1022T|NM_001287491,p.K1157T|uc031roi.1,p.K1022T	retained_intron, protein_coding	uc031roi.1	nonsynonymous SNV	exon8	c.A3065C	p.K1022T	FPREVRRLPEPAKSCRQRQLEARKA	FPREVRRLPEPATSCRQRQLEARKA	7.0	6.0	-	-	4320_2:74326605-74326605 A>C_FPREVRRLPEPATSCRQRQLEARKA
3:101136519-101136519 A>C	1.0	4320	COLON	-	-	-	-	SENP7	uc003duv.3,p.S101A|NM_001282802,p.S101A|ENST00000348610,p.S101A|uc003dut.3,p.S134A|uc003duu.3,p.S134A|ENST00000394094,p.S134A|NM_020654,p.S134A|ENST00000394095,p.S134A|NM_001282804,p.S101A|NM_001077203,p.S134A	retained_intron, protein_coding	uc003duv.3	nonsynonymous SNV	exon4	c.T301G	p.S101A	ANLCDANKVQSDSLPSTSVDSLETC	ANLCDANKVQSDALPSTSVDSLETC	6.0	2.0	-	-	4320_3:101136519-101136519 A>C_ANLCDANKVQSDALPSTSVDSLETC
19:54584599-54584599 T>G	0.0	4320	COLON	-	-	-	-	TARM1	ENST00000432826,p.K4T|NM_001135686,p.K4T|uc010yei.1,p.K4T	protein_coding	uc010yei.1	nonsynonymous SNV	exon1	c.A11C	p.K4T	MIPKLLSLLCFRLCVG	MIPTLLSLLCFRLCVG	1.0	2.0	unscreened	-	4320_19:54584599-54584599 T>G_MIPTLLSLLCFRLCVG
6:39580999-39580999 A>C	0.0	4320	COLON	-	-	-	-	KIF6	NM_145027,p.L202R|NM_001289021,p.L202R|NM_001289020,p.L202R|ENST00000373213,p.L41R|ENST00000287152,p.L202R|uc011dua.1,p.L202R|uc003oot.2,p.L202R|ENST00000538893,p.L202R|uc010jxb.1,p.L202R|ENST00000373215,p.L202R|ENST00000373216,p.L202R	protein_coding, processed_transcript	uc011dua.1	nonsynonymous SNV	exon6	c.T605G	p.L202R	HQATTEEEALNLLFLGDTNRMIAET	HQATTEEEALNLRFLGDTNRMIAET	2.0	6.0	unscreened	-	4320_6:39580999-39580999 A>C_HQATTEEEALNLRFLGDTNRMIAET
19:41601715-41601715 T>G	0.0	4320	COLON	-	-	-	-	CYP2A13	ENST00000330436,p.F452V|uc002opt.4,p.F452V|NM_000766,p.F452V	protein_coding	uc002opt.4	nonsynonymous SNV	exon9	c.T1354G	p.F452V	FGEGLARMELFLFFTTIMQNFRFKS	FGEGLARMELFLVFTTIMQNFRFKS	1.0	3.0	unscreened	-	4320_19:41601715-41601715 T>G_FGEGLARMELFLVFTTIMQNFRFKS
14:20666215-20666215 A>C	0.0	4320	COLON	-	-	-	-	OR11G2	ENST00000357366,p.S241R|NM_001005503,p.S241R|uc010tlb.2,p.S241R	protein_coding	uc010tlb.2	nonsynonymous SNV	exon1	c.A721C	p.S241R	KGPVIELVFSVLSPLPVFMLFLFIV	KGPVIELVFSVLRPLPVFMLFLFIV	1.0	4.0	unscreened	-	4320_14:20666215-20666215 A>C_KGPVIELVFSVLRPLPVFMLFLFIV
10:15761700-15761700 G>A	0.0	4320	COLON	-	-	-	-	ITGA8	uc010qcb.1,p.A24V|NM_001291494,p.A24V|NM_003638,p.A24V|ENST00000378076,p.A24V|uc001ioc.1,p.A24V	protein_coding, processed_transcript	uc010qcb.1	nonsynonymous SNV	exon1	c.C71T	p.A24V	SQAPLIAPLCCAAAALGMLLWSPAC	SQAPLIAPLCCAVAALGMLLWSPAC	4.0	8.0	unscreened	-	4320_10:15761700-15761700 G>A_SQAPLIAPLCCAVAALGMLLWSPAC
2:237032632-237032632 A>G	1.0	4320	COLON	-	-	-	-	AGAP1	ENST00000336665,p.S761G|ENST00000304032,p.S814G|NM_014914,p.S761G|ENST00000409538,p.S1026G|uc002vvt.3,p.S761G|ENST00000428334,p.S653G|uc002vvs.3,p.S814G|NM_001037131,p.S814G	retained_intron, protein_coding	uc002vvt.3	nonsynonymous SNV	exon17	c.A2281G	p.S761G	GNTALAYARQASSQECIDVLLQYGC	GNTALAYARQASGQECIDVLLQYGC	10.0	4.0	-	-	4320_2:237032632-237032632 A>G_GNTALAYARQASGQECIDVLLQYGC
3:154146495-154146495 C>T	0.0	4320	COLON	-	-	-	-	GPR149	NM_001038705,p.V304M|uc003faa.3,p.V304M|ENST00000389740,p.V304M	protein_coding	uc003faa.3	nonsynonymous SNV	exon1	c.G910A	p.V304M	NRGTLYGTRSFTVSVAQKRFALILA	NRGTLYGTRSFTMSVAQKRFALILA	1.0	9.0	unscreened	-	4320_3:154146495-154146495 C>T_NRGTLYGTRSFTMSVAQKRFALILA
11:86519431-86519431 T>C	0.0	4320	COLON	-	-	-	-	PRSS23	ENST00000441050,p.L217P|NM_001293180,p.L249P|NM_007173,p.L330P|uc001pcb.3,p.L249P|NM_001293178,p.L298P|uc021qok.1,p.L249P|uc010rts.1,p.L217P|NM_001293179,p.L249P|ENST00000280258,p.L249P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qok.1	nonsynonymous SNV	exon1	c.T746C	p.L249P	NANDIGMDYDYALLELKKPHKRKFM	NANDIGMDYDYAPLELKKPHKRKFM	7.0	1.0	-	-	4320_11:86519431-86519431 T>C_NANDIGMDYDYAPLELKKPHKRKFM
6:123369799-123369799 T>G	0.0	4320	COLON	-	-	-	-	CLVS2	ENST00000275162,p.H199Q|ENST00000368438,p.H53Q|uc003pzi.1,p.H199Q|NM_001010852,p.H199Q	protein_coding	uc003pzi.1	nonsynonymous SNV	exon4	c.T597G	p.H199Q	LQDSFPARFGGIHFVNQPWYIHALY	LQDSFPARFGGIQFVNQPWYIHALY	1.0	6.0	unscreened	-	4320_6:123369799-123369799 T>G_LQDSFPARFGGIQFVNQPWYIHALY
X:101972052-101972052 ->A	0.0	4320	COLON	-	-	ID=COSM1464503;OCCURENCE=1(large_intestine)	-	ARMCX5-GPRASP2,GPRASP2	uc022cbf.1,p.A752fs|ENST00000332262,p.A752fs|ENST00000543253,p.A752fs|uc004ejm.3,p.A752fs|NM_001199818,p.A752fs|NM_001184875,p.A752fs|NM_001184876,p.A752fs|uc004ejk.3,p.A752fs|NM_001004051,p.A752fs|uc022cbh.1,p.A752fs|NM_138437,p.A752fs|ENST00000535209,p.A752fs|uc004ejl.3,p.A752fs|uc022cbe.1,p.A752fs|NM_001184874,p.A752fs|uc022cay.1,p.A752fs|uc022cbg.1,p.A752fs	protein_coding, processed_transcript	uc022cbh.1	frameshift insertion	exon1	c.2256dupA	p.A752fs	KMLLNLSENPAVAKKLFSAKALSIF	KMLLNLSENPAVAKKTIQCQSSFNICGSL	4.0	5.0	unscreened	-	4320_X:101972052-101972052 ->A_KMLLNLSENPAVAKKTIQCQSSFNICGSL
8:107781944-107781944 G>A	0.0	4320	COLON	-	-	-	-	ABRA	ENST00000311955,p.R159W|NM_139166,p.R159W|uc003ymm.4,p.R159W	protein_coding	uc003ymm.4	nonsynonymous SNV	exon1	c.C475T	p.R159W	IDRILHSHGSPTRRRKCANLVSELT	IDRILHSHGSPTWRRKCANLVSELT	1.0	9.0	unscreened	-	4320_8:107781944-107781944 G>A_IDRILHSHGSPTWRRKCANLVSELT
15:28954451-28954451 C>T	0.0	4320	COLON	-	-	-	-	GOLGA8M	ENST00000563027,p.V91I|NM_001282468,p.V91I	protein_coding, processed_transcript	NM_001282468	nonsynonymous SNV	exon4	c.G271A	p.V91I	CQERAVVLDSRSVEISQLKNTIKSL	CQERAVVLDSRSIEISQLKNTIKSL	3.0	9.0	unscreened	-	4320_15:28954451-28954451 C>T_CQERAVVLDSRSIEISQLKNTIKSL
6:64498976-64498976 T>G	0.0	4320	COLON	-	-	-	-	EYS	uc011dxu.1,p.K2518T|ENST00000370616,p.K2518T|uc011dxt.1,p.K1430T|ENST00000503581,p.K2518T|NM_001142800,p.K2518T|ENST00000370621,p.K2518T|NM_001292009,p.K2518T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxu.1	nonsynonymous SNV	exon38	c.A7553C	p.K2518T	NLSLGVHTVHLGKFFQEGWLKVDDH	NLSLGVHTVHLGTFFQEGWLKVDDH	1.0	3.0	unscreened	-	4320_6:64498976-64498976 T>G_NLSLGVHTVHLGTFFQEGWLKVDDH
22:36685162-36685162 A>C	1.0	4320	COLON	-	-	ID=COSM1258482;OCCURENCE=1(oesophagus)	1	MYH9	NM_002473,p.L1509R|uc003apg.3,p.L1509R|ENST00000216181,p.L1509R	retained_intron, protein_coding, processed_transcript	uc003apg.3	nonsynonymous SNV	exon32	c.T4526G	p.L1509R	RLNKQFRTEMEDLMSSKDDVGKSVH	RLNKQFRTEMEDRMSSKDDVGKSVH	10.0	2.0	-	-	4320_22:36685162-36685162 A>C_RLNKQFRTEMEDRMSSKDDVGKSVH
16:52060909-52060909 G>A	0.0	4320	COLON	-	-	-	-	C16orf97	ENST00000562818,p.T99M|ENST00000566314,p.T23M|NM_001242473,p.T99M|ENST00000566628,p.T69M|uc021tih.1,p.T99M	retained_intron, protein_coding, processed_transcript	uc021tih.1	nonsynonymous SNV	exon5	c.C296T	p.T99M	QQQALKLACLSPTLLESSSCVDPPG	QQQALKLACLSPMLLESSSCVDPPG	1.0	5.0	unscreened	-	4320_16:52060909-52060909 G>A_QQQALKLACLSPMLLESSSCVDPPG
8:22460815-22460815 G>T	1.0	4320	COLON	-	-	-	-	C8orf58	ENST00000289989,p.G365V|NM_173686,p.G357V|uc003xce.3,p.G365V|NM_001013842,p.G365V|uc011kzl.2,p.G357V|ENST00000409586,p.G357V	protein_coding, processed_transcript	uc011kzl.2	nonsynonymous SNV	exon7	c.G1070T	p.G357V	VVKKQRAKNLSVG	VVKKQRAKNLSVV	4.0	8.0	unscreened	-	4320_8:22460815-22460815 G>T_VVKKQRAKNLSVV
9:286540-286540 T>G	0.0	4320	COLON	-	-	-	-	DOCK8	uc003zgf.2,p.L79R|NM_203447,p.L79R|uc011lls.1,p.L79R|ENST00000453981,p.L79R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lls.1	nonsynonymous SNV	exon3	c.T236G	p.L79R	LLMTHLNSLDVQLAQELGDFTDDDL	LLMTHLNSLDVQRAQELGDFTDDDL	8.0	3.0	-	-	4320_9:286540-286540 T>G_LLMTHLNSLDVQRAQELGDFTDDDL
19:30934573-30934573 A>G	0.0	4320	COLON	-	-	-	-	ZNF536	NM_014717,p.K35R|ENST00000591488,p.K35R|ENST00000355537,p.K35R|ENST00000585628,p.K35R|uc010edd.1,p.K35R|uc002nsu.1,p.K35R	protein_coding, processed_transcript	uc010edd.1	nonsynonymous SNV	exon2	c.A104G	p.K35R	GPVLNGQYAMSQKLHQITSQLSHAF	GPVLNGQYAMSQRLHQITSQLSHAF	1.0	5.0	unscreened	-	4320_19:30934573-30934573 A>G_GPVLNGQYAMSQRLHQITSQLSHAF
5:140516188-140516188 T>G	0.0	4320	COLON	-	-	-	-	PCDHB5	NM_015669,p.L391R|uc003liq.3,p.L391R|ENST00000231134,p.L391R	protein_coding	uc003liq.3	nonsynonymous SNV	exon1	c.T1172G	p.L391R	RMICSIQNDLPFLLKPTLKNFYTLV	RMICSIQNDLPFRLKPTLKNFYTLV	4.0	1.0	unscreened	-	4320_5:140516188-140516188 T>G_RMICSIQNDLPFRLKPTLKNFYTLV
7:82997239-82997239 G>A	0.0	4320	COLON	-	-	ID=COSM1292568;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(central_nervous_system),2(liver),2(pancreas)	-	SEMA3E	ENST00000307792,p.T664M|uc022agy.1,p.T604M|NM_001178129,p.T604M|NM_012431,p.T664M|ENST00000427262,p.T604M|uc003uhy.2,p.T664M	protein_coding, nonsense_mediated_decay	uc022agy.1	nonsynonymous SNV	exon17	c.C1811T	p.T604M	YFCQTVEHSFVHTVRKITLEVVEEE	YFCQTVEHSFVHMVRKITLEVVEEE	4.0	9.0	unscreened	-	4320_7:82997239-82997239 G>A_YFCQTVEHSFVHMVRKITLEVVEEE
11:17801122-17801122 A>G	0.0	4320	COLON	-	-	-	-	KCNC1	uc009yhc.1,p.R542G|NM_001112741,p.R542G|uc001mnl.1,p.R44G|ENST00000265969,p.R542G	retained_intron, protein_coding, processed_transcript	uc009yhc.1	nonsynonymous SNV	exon3	c.A1624G	p.R542G	EGLPFTRSGTRERYGPCFLLSTGEY	EGLPFTRSGTREGYGPCFLLSTGEY	1.0	1.0	unscreened	-	4320_11:17801122-17801122 A>G_EGLPFTRSGTREGYGPCFLLSTGEY
22:30824484-30824484 A>C	1.0	4320	COLON	-	-	-	-	MTFP1	uc010gvy.1,p.S58R	 protein_coding,retained_intron, nonsense_mediated_decay	uc010gvy.1	nonsynonymous SNV	exon3	c.A172C	p.S58R	GRWISSWTPACASSTQQWGSPAPPD	GRWISSWTPACARSTQQWGSPAPPD	6.0	4.0	-	-	4320_22:30824484-30824484 A>C_GRWISSWTPACARSTQQWGSPAPPD
22:30824484-30824484 A>C	1.0	4320	COLON	-	-	-	-	MTFP1	uc010gvx.1,p.S66R	 protein_coding,retained_intron, nonsense_mediated_decay	uc010gvx.1	nonsynonymous SNV	exon5	c.A196C	p.S66R	CRWISSWTPACASSTQQWGSPAPPD	CRWISSWTPACARSTQQWGSPAPPD	6.0	4.0	-	-	4320_22:30824484-30824484 A>C_CRWISSWTPACARSTQQWGSPAPPD
1:70460316-70460316 A>C	0.0	4320	COLON	-	-	-	-	LRRC7	ENST00000310961,p.N302T|ENST00000035383,p.N297T|uc001dep.3,p.N297T|NM_020794,p.N297T	protein_coding, processed_transcript, nonsense_mediated_decay	uc001dep.3	nonsynonymous SNV	exon9	c.A890C	p.N297T	DNQLTMLPNTIGNLSLLEEFDCSCN	DNQLTMLPNTIGTLSLLEEFDCSCN	1.0	7.0	unscreened	-	4320_1:70460316-70460316 A>C_DNQLTMLPNTIGTLSLLEEFDCSCN
22:37471229-37471229 A>T	0.0	4320	COLON	-	-	-	-	TMPRSS6	ENST00000406725,p.S430T|NM_001289000,p.S430T|uc003aqt.1,p.S430T|ENST00000406856,p.S430T|ENST00000346753,p.S439T|NM_153609,p.S439T|NM_001289001,p.S430T|uc003aqs.1,p.S439T|ENST00000381792,p.S430T	protein_coding	uc003aqt.1	nonsynonymous SNV	exon11	c.T1288A	p.S430T	TAGITINFTSQISLTGPGVRVHYGL	TAGITINFTSQITLTGPGVRVHYGL	3.0	7.0	unscreened	-	4320_22:37471229-37471229 A>T_TAGITINFTSQITLTGPGVRVHYGL
12:5963286-5963286 A>T	0.0	4320	COLON	-	-	-	-	ANO2	uc021qtt.1,p.F186I|ENST00000327087,p.F182I|NM_001278597,p.F182I|ENST00000356134,p.F182I|NM_001278596,p.F186I|ENST00000546188,p.F182I|uc001qnm.2,p.F182I	protein_coding, processed_transcript	uc021qtt.1	nonsynonymous SNV	exon4	c.T556A	p.F186I	EKDLENKSQGSIFVRIHAPWQVLAR	EKDLENKSQGSIIVRIHAPWQVLAR	4.0	1.0	unscreened	-	4320_12:5963286-5963286 A>T_EKDLENKSQGSIIVRIHAPWQVLAR
6:26108185-26108185 T>C	0.0	4320	COLON	-	-	-	-	HIST1H1T	NM_005323,p.K46R|uc003ngj.3,p.K46R|ENST00000338379,p.K46R	protein_coding	uc003ngj.3	nonsynonymous SNV	exon1	c.A137G	p.K46R	SASRKVPNLSVSKLITEALSVSQER	SASRKVPNLSVSRLITEALSVSQER	1.0	7.0	unscreened	-	4320_6:26108185-26108185 T>C_SASRKVPNLSVSRLITEALSVSQER
19:21300238-21300238 C>A	1.0	4320	COLON	-	-	-	-	ZNF714	uc002npl.3,p.F102L|ENST00000596143,p.F256L|ENST00000600435,p.F256L	protein_coding, processed_transcript, nonsense_mediated_decay	uc002npl.3	nonsynonymous SNV	exon5	c.C306A	p.F102L	TTHKVIHTGEKPFKCEECGKAFNHP	TTHKVIHTGEKPLKCEECGKAFNHP	8.0	10.0	-	-	4320_19:21300238-21300238 C>A_TTHKVIHTGEKPLKCEECGKAFNHP
8:7807627-7807627 T>A	0.0	4320	COLON	-	-	-	-	ZNF705B	NM_001193630,p.V71E|ENST00000400120,p.V71E|uc010lro.1,p.V71E|ENST00000443676,p.V71E	protein_coding	uc010lro.1	nonsynonymous SNV	exon5	c.T212A	p.V71E	LEQGKELWWEGRVFLQDQNPDRESA	LEQGKELWWEGREFLQDQNPDRESA	1.0	8.0	unscreened	-	4320_8:7807627-7807627 T>A_LEQGKELWWEGREFLQDQNPDRESA
21:17220076-17220076 ->G	0.0	4320	COLON	-	-	-	-	USP25	ENST00000400183,p.E811fs|uc011aby.1,p.E811fs|NM_001283041,p.E811fs	retained_intron, protein_coding, processed_transcript	uc011aby.1	frameshift insertion	exon19	c.2433dupG	p.E811fs	IPHVGKFMIESKEGGYDDEIMMTPN	IPHVGKFMIESKEGGV	8.0	3.0	-	-	4320_21:17220076-17220076 ->G_IPHVGKFMIESKEGGV
16:49314917-49314917 G>A	0.0	4320	COLON	-	-	-	-	CBLN1	ENST00000536749,p.R101C|uc002efq.3,p.R101C|ENST00000219197,p.R101C|NM_004352,p.R101C	protein_coding, nonsense_mediated_decay	uc002efq.3	nonsynonymous SNV	exon2	c.C301T	p.R101C	VLVNIGNNFDSERSTFIAPRKGIYS	VLVNIGNNFDSECSTFIAPRKGIYS	3.0	1.0	unscreened	-	4320_16:49314917-49314917 G>A_VLVNIGNNFDSECSTFIAPRKGIYS
19:58718257-58718257 C>T	1.0	4320	COLON	-	-	-	-	ZNF274	uc002qrs.1,p.P38S|uc002qrq.1,p.P143S|ENST00000345813,p.P111S|ENST00000424679,p.P38S|ENST00000326804,p.P143S|uc002qrr.1,p.P111S	retained_intron, protein_coding, processed_transcript	uc002qrs.1	nonsynonymous SNV	exon2	c.C112T	p.P38S	LYAEDGSLSADAPSEQVQQQGKHPG	LYAEDGSLSADASSEQVQQQGKHPG	7.0	7.0	-	-	4320_19:58718257-58718257 C>T_LYAEDGSLSADASSEQVQQQGKHPG
10:14816509-14816509 C>T	0.0	4320	COLON	-	-	-	-	FAM107B	uc001ina.1,p.V52I|ENST00000181796,p.V52I|ENST00000487335,p.V52I|NM_031453,p.V52I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ina.1	nonsynonymous SNV	exon1	c.G154A	p.V52I	FNQSGVADTHSTVRVQPVAKAGRQP	FNQSGVADTHSTIRVQPVAKAGRQP	8.0	7.0	-	-	4320_10:14816509-14816509 C>T_FNQSGVADTHSTIRVQPVAKAGRQP
2:166198963-166198963 T>C	0.0	4320	COLON	-	-	-	-	SCN2A	ENST00000283256,p.L849P|NM_001040142,p.L849P|uc002udd.3,p.L849P|ENST00000375427,p.L849P|uc002udc.3,p.L849P|ENST00000357398,p.L849P|NM_001040143,p.L849P|NM_021007,p.L849P|uc002ude.3,p.L849P|ENST00000375437,p.L849P	retained_intron, protein_coding	uc002ude.3	nonsynonymous SNV	exon14	c.T2546C	p.L849P	ELGLANVEGLSVLRSFRLLRVFKLA	ELGLANVEGLSVPRSFRLLRVFKLA	3.0	6.0	unscreened	-	4320_2:166198963-166198963 T>C_ELGLANVEGLSVPRSFRLLRVFKLA
11:6007377-6007377 G>A	0.0	4320	COLON	-	-	-	-	OR52L1	uc001mcd.2,p.H262Y|ENST00000332249,p.H262Y|NM_001005173,p.H262Y	protein_coding	uc001mcd.2	nonsynonymous SNV	exon1	c.C784T	p.H262Y	EARLKAFSTCGSHICVILVFYVPGI	EARLKAFSTCGSYICVILVFYVPGI	2.0	5.0	unscreened	-	4320_11:6007377-6007377 G>A_EARLKAFSTCGSYICVILVFYVPGI
2:158142607-158142607 T>G	0.0	4320	COLON	-	-	-	-	GALNT5	ENST00000259056,p.L568V|uc002tzg.3,p.L568V|NM_014568,p.L568V	protein_coding, processed_transcript	uc002tzg.3	nonsynonymous SNV	exon3	c.T1702G	p.L568V	KVRILRLKERHGLIRARLAGAQNAT	KVRILRLKERHGVIRARLAGAQNAT	5.0	1.0	unscreened	-	4320_2:158142607-158142607 T>G_KVRILRLKERHGVIRARLAGAQNAT
4:55604607-55604607 T>G	1.0	4320	COLON	-	-	-	1	KIT	uc010igr.3,p.L939V|NM_000222,p.L939V|ENST00000412167,p.L935V|uc010igs.3,p.L935V|NM_001093772,p.L935V|ENST00000288135,p.L939V	retained_intron, protein_coding	uc010igs.3	nonsynonymous SNV	exon21	c.T2803G	p.L935V	QISESTNHIYSNLANCSPNRQKPVV	QISESTNHIYSNVANCSPNRQKPVV	6.0	4.0	-	-	4320_4:55604607-55604607 T>G_QISESTNHIYSNVANCSPNRQKPVV
3:70008500-70008500 C>T	0.0	4320	COLON	-	-	-	1	MITF	ENST00000352241,p.R364C|ENST00000328528,p.R363C|uc011bgb.2,p.R312C|uc021xam.1,p.R201C|NM_198159,p.R364C|uc003doa.3,p.R363C|uc003dnz.3,p.R364C|ENST00000531774,p.R201C|ENST00000314557,p.R257C|uc003doe.3,p.R257C|NM_006722,p.R363C|NM_198178,p.R201C|ENST00000394351,p.R263C|ENST00000448226,p.R370C|ENST00000314589,p.R348C|NM_198177,p.R348C|ENST00000472437,p.R312C|uc003dob.3,p.R348C|NM_198158,p.R257C|ENST00000394355,p.R339C|uc003dof.3,p.R263C|NM_001184967,p.R312C|NM_000248,p.R263C	protein_coding, processed_transcript, nonsense_mediated_decay	uc021xam.1	nonsynonymous SNV	exon8	c.C601T	p.R201C	VDYIRKLQREQQRAKELENRQKKLE	VDYIRKLQREQQCAKELENRQKKLE	6.0	6.0	-	-	4320_3:70008500-70008500 C>T_VDYIRKLQREQQCAKELENRQKKLE
8:133918963-133918963 C>T	0.0	4320	COLON	0.01	-	ID=COSM1454959;OCCURENCE=1(large_intestine)	-	TG	ENST00000220616,p.S1222L|NM_003235,p.S1222L|ENST00000377869,p.S1222L|uc003ytw.3,p.S1222L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ytw.3	nonsynonymous SNV	exon17	c.C3665T	p.S1222L	CESPRCPLPFNASEVVGGTILCETI	CESPRCPLPFNALEVVGGTILCETI	5.0	10.0	unscreened	-	4320_8:133918963-133918963 C>T_CESPRCPLPFNALEVVGGTILCETI
2:152382673-152382673 T>G	0.0	4320	COLON	-	-	-	-	NEB	NM_001164508,p.E7350A|ENST00000604864,p.E7350A|ENST00000397345,p.E7350A|ENST00000413693,p.E2080A|uc002txu.3,p.E7350A|uc002txt.4,p.E154A|NM_001164507,p.E7350A|uc021vrb.1,p.E5649A|ENST00000409198,p.E5649A|uc031rpp.1,p.E7385A|NM_001271208,p.E7385A|ENST00000172853,p.E5649A|uc021vrc.1,p.E7350A|ENST00000427231,p.E7350A|uc021vrd.1,p.E5649A|uc002txr.3,p.E2115A|ENST00000603639,p.E7350A	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon150	c.A22154C	p.E7385A	ILLAKTVSNLVSENKYKDHVKKHLA	ILLAKTVSNLVSANKYKDHVKKHLA	5.0	4.0	unscreened	-	4320_2:152382673-152382673 T>G_ILLAKTVSNLVSANKYKDHVKKHLA
1:42875834-42875834 C>T	0.0	4320	COLON	-	-	-	-	RIMKLA	uc001chi.2,p.R221W|NM_173642,p.R221W|ENST00000431473,p.R221W	protein_coding	uc001chi.2	nonsynonymous SNV	exon4	c.C661T	p.R221W	VIGSMLRCSTDGRMQSNCSLGGVGV	VIGSMLRCSTDGWMQSNCSLGGVGV	5.0	10.0	unscreened	-	4320_1:42875834-42875834 C>T_VIGSMLRCSTDGWMQSNCSLGGVGV
12:21370204-21370204 T>C	0.0	4320	COLON	-	-	-	-	SLCO1B1	ENST00000256958,p.L550P|NM_006446,p.L550P|uc001req.4,p.L550P	protein_coding	uc001req.4	nonsynonymous SNV	exon12	c.T1649C	p.L550P	VAIQVLNLFFSALGGTSHVMLIVKI	VAIQVLNLFFSAPGGTSHVMLIVKI	5.0	1.0	unscreened	-	4320_12:21370204-21370204 T>C_VAIQVLNLFFSAPGGTSHVMLIVKI
19:36590514-36590514 A>G	1.0	4320	COLON	-	-	-	-	WDR62	ENST00000270301,p.S912G|uc002odd.2,p.S912G|NM_001083961,p.S912G|ENST00000401500,p.S912G|uc002odc.2,p.S912G|NM_173636,p.S912G	protein_coding, processed_transcript, nonsense_mediated_decay	uc002odd.2	nonsynonymous SNV	exon22	c.A2734G	p.S912G	DSLEPQSLASLLSESESPQEAGRGH	DSLEPQSLASLLGESESPQEAGRGH	7.0	1.0	-	-	4320_19:36590514-36590514 A>G_DSLEPQSLASLLGESESPQEAGRGH
2:179548015-179548015 G>A	0.0	4320	COLON	-	-	-	-	TTN	NM_133378,p.T9693I|NM_001267550,p.T10937I|ENST00000342992,p.T9693I|uc002umz.1,p.T6354I|NM_001256850,p.T10620I|ENST00000589042,p.T10937I|uc031rqd.1,p.T10620I|ENST00000591111,p.T10620I|uc031rqc.1,p.T10937I|uc021vsy.2,p.T9693I	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon132	c.C31859T	p.T10620I	KPKREEEPPAKVTEFRKRVVKEEKV	KPKREEEPPAKVIEFRKRVVKEEKV	5.0	10.0	unscreened	-	4320_2:179548015-179548015 G>A_KPKREEEPPAKVIEFRKRVVKEEKV
5:140593895-140593895 T>G	1.0	4320	COLON	-	-	-	-	PCDHB13	uc003lja.1,p.V67G|NM_018933,p.V67G|ENST00000341948,p.V67G	protein_coding	uc003lja.1	nonsynonymous SNV	exon1	c.T200G	p.V67G	LEQREFSRRGVRVVSRGNKLHLQLN	LEQREFSRRGVRGVSRGNKLHLQLN	7.0	3.0	-	-	4320_5:140593895-140593895 T>G_LEQREFSRRGVRGVSRGNKLHLQLN
1:32089257-32089257 G>A	0.0	4320	COLON	-	-	-	-	HCRTR1	NM_001525,p.R291H|ENST00000373706,p.R291H|uc001btd.2,p.R291H|uc001btc.4,p.R205H|ENST00000403528,p.R291H|uc009vtx.2,p.R291H|ENST00000373705,p.R291H|uc010ogl.2,p.R291H	protein_coding, processed_transcript	uc010ogl.2	nonsynonymous SNV	exon5	c.G872A	p.R291H	RARAFLAEVKQMRARRKTAKMLMVV	RARAFLAEVKQMHARRKTAKMLMVV	1.0	10.0	unscreened	-	4320_1:32089257-32089257 G>A_RARAFLAEVKQMHARRKTAKMLMVV
X:150349034-150349034 C>T	0.0	4320	COLON	-	-	ID=COSM1253564,COSM1253565;OCCURENCE=1(oesophagus)	-	GPR50	ENST00000218316,p.R327C|uc010ntg.2,p.R327C|NM_004224,p.R327C	protein_coding	uc010ntg.2	nonsynonymous SNV	exon2	c.C979T	p.R327C	PIIFFSGLISDIREMQEARTLARAR	PIIFFSGLISDICEMQEARTLARAR	1.0	7.0	unscreened	-	4320_X:150349034-150349034 C>T_PIIFFSGLISDICEMQEARTLARAR
11:43419634-43419634 A>C	0.0	4320	COLON	-	-	-	-	TTC17	uc001mxi.3,p.K343N|uc001mxh.3,p.K343N|ENST00000299240,p.K343N|uc001mxj.3,p.K113N|ENST00000039989,p.K343N|uc010rfj.2,p.K286N|NM_018259,p.K343N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rfj.2	nonsynonymous SNV	exon7	c.A858C	p.K286N	AIKRKHAVLCQQKLEQKLEAQHRSL	AIKRKHAVLCQQNLEQKLEAQHRSL	9.0	6.0	-	-	4320_11:43419634-43419634 A>C_AIKRKHAVLCQQNLEQKLEAQHRSL
5:26903930-26903930 G>A	0.0	4320	COLON	0.0014	-	-	-	CDH9	uc003jgs.1,p.T272M|NM_016279,p.T272M|ENST00000231021,p.T272M|uc010iug.3,p.T272M	retained_intron, protein_coding	uc010iug.3	nonsynonymous SNV	exon6	c.C815T	p.T272M	DVNNNPPRFPQSTYQFNSPESVPLG	DVNNNPPRFPQSMYQFNSPESVPLG	1.0	10.0	unscreened	-	4320_5:26903930-26903930 G>A_DVNNNPPRFPQSMYQFNSPESVPLG
7:65419354-65419356 TTA>-	1.0	4320	COLON	-	-	ID=COSM1091310;OCCURENCE=1(endometrium)	-	VKORC1L1	uc011kds.2,p.163_164del|ENST00000434382,p.163_164del|NM_001284342,p.163_164del	protein_coding	uc011kds.2	nonframeshift deletion	exon2	c.488_490del	p.163_164del	KPLSIQFILQQVFIIIIIIIIHNRH	KPLSIQFILQQVFIIIIIIIHNRHF	7.0	1.0	unscreened	-	4320_7:65419354-65419356 TTA>-_KPLSIQFILQQVFIIIIIIIHNRHF
1:173725130-173725130 G>T	1.0	4320	COLON	-	-	-	-	KLHL20	uc010pmr.2,p.R118M|ENST00000546011,p.R118M|uc001gjc.3,p.R307M|ENST00000209884,p.R307M|uc009wwf.3,p.R289M|NM_014458,p.R307M	protein_coding, processed_transcript	uc010pmr.2	nonsynonymous SNV	exon5	c.G353T	p.R118M	LLPQERPLMQGPRTRPRKPIRCGEV	LLPQERPLMQGPMTRPRKPIRCGEV	8.0	6.0	-	-	4320_1:173725130-173725130 G>T_LLPQERPLMQGPMTRPRKPIRCGEV
20:39832058-39832058 T>G	0.0	4320	COLON	-	-	-	-	ZHX3	uc002xjr.1,p.K500T|ENST00000432768,p.K500T|uc002xjs.1,p.K500T|uc002xjv.1,p.K500T|ENST00000309060,p.K500T|ENST00000560361,p.K500T|ENST00000559234,p.K500T|ENST00000544979,p.K500T|uc002xju.1,p.K500T|uc002xjw.1,p.K500T|uc002xjt.1,p.K500T|ENST00000540170,p.K500T|uc010ggg.1,p.K500T|NM_015035,p.K500T	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ggg.1	nonsynonymous SNV	exon1	c.A1499C	p.K500T	SQAFLDASIYKNKKSHEQLSALKGS	SQAFLDASIYKNTKSHEQLSALKGS	6.0	1.0	-	-	4320_20:39832058-39832058 T>G_SQAFLDASIYKNTKSHEQLSALKGS
14:105415003-105415003 T>G	1.0	4320	COLON	-	-	-	-	AHNAK2	uc010axc.1,p.K2262T|uc001ypx.2,p.K2162T|ENST00000333244,p.K2262T|NM_138420,p.K2262T	retained_intron, protein_coding	uc010axc.1	nonsynonymous SNV	exon7	c.A6785C	p.K2262T	DLKGPEIDIKGPKLDLKDPKVEVTA	DLKGPEIDIKGPTLDLKDPKVEVTA	9.0	2.0	-	-	4320_14:105415003-105415003 T>G_DLKGPEIDIKGPTLDLKDPKVEVTA
19:9059916-9059916 A>C	0.0	4320	COLON	-	-	-	2	MUC16	NM_024690,p.L9177R|ENST00000397910,p.L9177R|uc002mkp.3,p.L9177R	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.T27530G	p.L9177R	DSIHSSSLPVTSLLTSGLVKTTELL	DSIHSSSLPVTSRLTSGLVKTTELL	4.0	7.0	unscreened	-	4320_19:9059916-9059916 A>C_DSIHSSSLPVTSRLTSGLVKTTELL
6:51497497-51497497 T>C	0.0	4320	COLON	-	-	-	-	PKHD1	NM_138694,p.K3844R|uc003pah.1,p.K3844R|ENST00000371117,p.K3844R	protein_coding	uc003pah.1	nonsynonymous SNV	exon65	c.A11531G	p.K3844R	TSPPGVNFTARSKPFAVLPVTRKEK	TSPPGVNFTARSRPFAVLPVTRKEK	4.0	7.0	unscreened	-	4320_6:51497497-51497497 T>C_TSPPGVNFTARSRPFAVLPVTRKEK
16:27789897-27789897 T>G	1.0	4320	COLON	-	-	-	-	KIAA0556	ENST00000261588,p.L1602V|NM_015202,p.L1602V|uc010vco.2,p.L104V|uc002dow.3,p.L1602V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vco.2	nonsynonymous SNV	exon4	c.T310G	p.L104V	NAKRKQSVVDPALRPKTCISEKETR	NAKRKQSVVDPAVRPKTCISEKETR	9.0	7.0	-	-	4320_16:27789897-27789897 T>G_NAKRKQSVVDPAVRPKTCISEKETR
X:21670521-21670521 T>G	0.0	4320	COLON	-	-	-	-	CNKSR2	uc004czx.2,p.L996R|uc011mjo.2,p.L966R|NM_014927,p.L996R|ENST00000425654,p.L966R|NM_001168647,p.L966R|ENST00000379510,p.L996R	protein_coding, processed_transcript	uc011mjo.2	nonsynonymous SNV	exon21	c.T2897G	p.L966R	KEFQQWKQMYLDLFLDICQNTTSND	KEFQQWKQMYLDRFLDICQNTTSND	4.0	5.0	unscreened	-	4320_X:21670521-21670521 T>G_KEFQQWKQMYLDRFLDICQNTTSND
5:140810394-140810395 TG>-	0.0	4320	COLON	-	-	-	-	PCDHGA12	uc003lkt.2,p.L23fs|NM_003735,p.L23fs|NM_032094,p.L23fs|uc011dba.2,p.L23fs|ENST00000252085,p.L23fs	protein_coding	uc011dba.2	frameshift deletion	exon1	c.68_69del	p.L23fs	KGLVLLGILLGTLWETGCTQIRYSV	KGLVLLGILLGTLGDRMHPDTLFSSGRAGERL	5.0	9.0	unscreened	-	4320_5:140810394-140810395 TG>-_KGLVLLGILLGTLGDRMHPDTLFSSGRAGERL
5:172581376-172581376 C>G	0.0	4320	COLON	-	-	ID=COSM3827698;OCCURENCE=1(breast)	-	BNIP1	uc003mci.4,p.L120V|uc003mcl.4,p.L77V|NM_001205,p.L77V|ENST00000351486,p.L77V|ENST00000352523,p.L120V|NM_013978,p.L77V|NM_013980,p.L120V|NM_013979,p.L120V|uc003mcj.4,p.L77V|ENST00000393770,p.L77V|uc003mck.4,p.L120V|ENST00000231668,p.L120V	protein_coding	uc003mcl.4	nonsynonymous SNV	exon3	c.C229G	p.L77V	AKEQDKESEKQLLLQEVENHKKQML	AKEQDKESEKQLVLQEVENHKKQML	5.0	3.0	unscreened	-	4320_5:172581376-172581376 C>G_AKEQDKESEKQLVLQEVENHKKQML
8:98289219-98289219 A>C	0.0	4320	COLON	-	-	-	-	TSPYL5	uc003yhy.3,p.L285R|NM_033512,p.L285R|ENST00000322128,p.L285R	protein_coding	uc003yhy.3	nonsynonymous SNV	exon1	c.T854G	p.L285R	VLSYLNSLEVEELGLARLGYKIKFY	VLSYLNSLEVEERGLARLGYKIKFY	3.0	2.0	unscreened	-	4320_8:98289219-98289219 A>C_VLSYLNSLEVEERGLARLGYKIKFY
3:12641707-12641707 C>T	1.0	4320	COLON	-	-	-	1	RAF1	uc011auu.2,p.V230M|NM_002880,p.V312M|ENST00000442415,p.V332M|uc011aut.2,p.V97M|ENST00000251849,p.V312M|ENST00000432427,p.V191M|uc003bxf.4,p.V312M|ENST00000542177,p.V231M|ENST00000534997,p.V97M	retained_intron, protein_coding, nonsense_mediated_decay	uc011auu.2	nonsynonymous SNV	exon8	c.G688A	p.V230M	LSPTGWSQPKTPVPAQRERAPVSGT	LSPTGWSQPKTPMPAQRERAPVSGT	9.0	10.0	-	-	4320_3:12641707-12641707 C>T_LSPTGWSQPKTPMPAQRERAPVSGT
20:49626313-49626313 G>A	1.0	4320	COLON	-	-	-	-	KCNG1	ENST00000439216,p.A188V|NM_002237,p.A188V|ENST00000371571,p.A188V|ENST00000396017,p.A188V|uc002xwb.3,p.A188V|uc002xwa.4,p.A188V	protein_coding	uc002xwb.3	nonsynonymous SNV	exon3	c.C563T	p.A188V	FAEMVEREEEDDALDSEGRDSEGPA	FAEMVEREEEDDVLDSEGRDSEGPA	5.0	10.0	unscreened	-	4320_20:49626313-49626313 G>A_FAEMVEREEEDDVLDSEGRDSEGPA
17:42824510-42824510 A>C	0.0	4320	COLON	-	-	-	-	DBF4B	NM_145663,p.K297T|ENST00000315005,p.K297T|ENST00000393547,p.K297T|uc010wjc.2,p.K297T|NM_025104,p.K297T|uc002ihe.3,p.K111T|uc002ihf.3,p.K297T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wjc.2	nonsynonymous SNV	exon11	c.A890C	p.K297T	SPRSAAHTMPRRKKGYCECCQEAFE	SPRSAAHTMPRRTKGYCECCQEAFE	6.0	4.0	-	-	4320_17:42824510-42824510 A>C_SPRSAAHTMPRRTKGYCECCQEAFE
9:117819464-117819464 C>T	0.0	4320	COLON	-	-	-	2	TNC	ENST00000542877,p.R1152Q|uc022bmj.1,p.R1152Q	protein_coding, processed_transcript	uc022bmj.1	nonsynonymous SNV	exon10	c.G3455A	p.R1152Q	FIVYLSGLAPSIRTKTISATATTEP	FIVYLSGLAPSIQTKTISATATTEP	8.0	7.0	-	-	4320_9:117819464-117819464 C>T_FIVYLSGLAPSIQTKTISATATTEP
11:56344893-56344893 A>C	0.0	4320	COLON	-	-	-	-	OR5M10	NM_001004741,p.L102R|uc001niz.1,p.L102R|ENST00000526812,p.L102R	protein_coding	uc001niz.1	nonsynonymous SNV	exon1	c.T305G	p.L102R	KTISYAGCFTQCLLFIALVITEFYF	KTISYAGCFTQCRLFIALVITEFYF	1.0	3.0	unscreened	-	4320_11:56344893-56344893 A>C_KTISYAGCFTQCRLFIALVITEFYF
19:9801314-9801314 A>C	0.0	4320	COLON	-	-	-	-	ZNF812	NM_001199814,p.S289A|ENST00000457674,p.S289A|uc021uop.1,p.S289A|uc010xkx.2,p.S185A	protein_coding, processed_transcript	uc021uop.1	nonsynonymous SNV	exon6	c.T865G	p.S289A	HKYTECGKAFTRSTHLTQHVRTHTG	HKYTECGKAFTRATHLTQHVRTHTG	2.0	6.0	unscreened	-	4320_19:9801314-9801314 A>C_HKYTECGKAFTRATHLTQHVRTHTG
11:3688590-3688590 A>G	0.0	4320	COLON	-	-	-	-	CHRNA10	ENST00000534359,p.S74P	protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000534359	nonsynonymous SNV	exon4	c.T220C	p.S74P	CCPACSSRCLRRSPSTCLPTQARRC	CCPACSSRCLRRPPSTCLPTQARRC	4.0	4.0	unscreened	-	4320_11:3688590-3688590 A>G_CCPACSSRCLRRPPSTCLPTQARRC
X:102004939-102004939 T>A	0.0	4320	COLON	-	-	-	-	BHLHB9	NM_001142528,p.L339H|NM_001142530,p.L339H|uc022cbi.1,p.L339H|uc004ejo.3,p.L339H|uc011mrv.2,p.L339H|ENST00000448867,p.L339H|uc010nog.3,p.L339H|ENST00000361229,p.L339H|NM_001142527,p.L339H|NM_030639,p.L339H|uc011mrq.2,p.L339H|uc011mrs.2,p.L339H|ENST00000457056,p.L339H|uc011mrr.2,p.L339H|uc011mru.2,p.L339H|NM_001142524,p.L339H|NM_001142526,p.L339H|uc011mrt.2,p.L339H|ENST00000447531,p.L339H|NM_001142525,p.L339H|NM_001142529,p.L339H|ENST00000372735,p.L339H	protein_coding, processed_transcript	uc022cbi.1	nonsynonymous SNV	exon1	c.T1016A	p.L339H	KLVSLLKSTTDPLIHKIARIAMGVH	KLVSLLKSTTDPHIHKIARIAMGVH	3.0	6.0	unscreened	-	4320_X:102004939-102004939 T>A_KLVSLLKSTTDPHIHKIARIAMGVH
19:16798958-16798958 T>C	1.0	4320	COLON	-	-	-	-	TMEM38A	NM_024074,p.F226L|uc002nes.3,p.F226L|ENST00000187762,p.F226L	retained_intron, protein_coding	uc002nes.3	nonsynonymous SNV	exon6	c.T676C	p.F226L	FIFTLFMVSCKVFLTATHSHSSPFD	FIFTLFMVSCKVLLTATHSHSSPFD	4.0	5.0	unscreened	-	4320_19:16798958-16798958 T>C_FIFTLFMVSCKVLLTATHSHSSPFD
22:50662684-50662684 C>T	1.0	4320	COLON	-	-	-	-	TUBGCP6	ENST00000439308,p.R719Q|ENST00000248846,p.R719Q|uc003bkb.1,p.R719Q|uc010har.1,p.R719Q|uc003bkd.1,p.R73Q|NM_020461,p.R719Q	retained_intron, protein_coding, processed_transcript	uc010har.1	nonsynonymous SNV	exon13	c.G2156A	p.R719Q	QRLKEQFVKDQERRQAARQEELDDD	QRLKEQFVKDQEQRQAARQEELDDD	7.0	10.0	-	-	4320_22:50662684-50662684 C>T_QRLKEQFVKDQEQRQAARQEELDDD
6:41165991-41165991 A>C	0.0	4320	COLON	-	-	-	-	TREML2	uc010jxm.1,p.L78V|NM_024807,p.L78V|ENST00000483722,p.L78V	protein_coding	uc010jxm.1	nonsynonymous SNV	exon2	c.T232G	p.L78V	GFARVWVKGPRYLLQDDAQAKVVNI	GFARVWVKGPRYVLQDDAQAKVVNI	2.0	1.0	unscreened	-	4320_6:41165991-41165991 A>C_GFARVWVKGPRYVLQDDAQAKVVNI
19:4652302-4652302 G>A	0.0	4320	COLON	-	-	-	-	TNFAIP8L1	uc021une.1,p.G141S|uc021unf.1,p.G141S|NM_152362,p.G141S|uc002max.3,p.G141S|ENST00000327473,p.G141S|ENST00000536716,p.G141S|NM_001167942,p.G141S	protein_coding, processed_transcript	uc021unf.1	nonsynonymous SNV	exon1	c.G421A	p.G141S	QAVGPHLTAKSHGRINHVFGHLADC	QAVGPHLTAKSHSRINHVFGHLADC	2.0	4.0	unscreened	-	4320_19:4652302-4652302 G>A_QAVGPHLTAKSHSRINHVFGHLADC
12:41967443-41967443 A>C	0.0	4320	COLON	-	-	-	-	PDZRN4	ENST00000539469,p.K696N|uc001rmr.3,p.K581N|uc001rmq.4,p.K696N|ENST00000298919,p.K694N|ENST00000402685,p.K954N|uc009zjz.3,p.K694N|NM_013377,p.K696N|NM_001164595,p.K954N|uc010skn.2,p.K954N	retained_intron, protein_coding	uc010skn.2	nonsynonymous SNV	exon10	c.A2862C	p.K954N	SKEERKQHLVRAKEQRRRREFMMRS	SKEERKQHLVRANEQRRRREFMMRS	1.0	1.0	unscreened	-	4320_12:41967443-41967443 A>C_SKEERKQHLVRANEQRRRREFMMRS
18:6986242-6986242 T>A	0.0	4320	COLON	-	-	-	-	LAMA1	uc010wzj.2,p.N1234I|uc002knm.3,p.N1758I|NM_005559,p.N1758I|ENST00000389658,p.N1758I	retained_intron, protein_coding	uc010wzj.2	nonsynonymous SNV	exon36	c.A3701T	p.N1234I	LKEAASHVLSKHNNELKAAEALVRE	LKEAASHVLSKHINELKAAEALVRE	3.0	5.0	unscreened	-	4320_18:6986242-6986242 T>A_LKEAASHVLSKHINELKAAEALVRE
17:73997571-73997571 A>C	0.0	4320	COLON	-	-	-	-	CDK3	uc010dgt.3,p.K22T|ENST00000425876,p.K22T|ENST00000448471,p.K22T|NM_001258,p.K22T|ENST00000588812,p.K22T	protein_coding	uc010dgt.3	nonsynonymous SNV	exon2	c.A65C	p.K22T	IGEGTYGVVYKAKNRETGQLVALKK	IGEGTYGVVYKATNRETGQLVALKK	6.0	1.0	-	-	4320_17:73997571-73997571 A>C_IGEGTYGVVYKATNRETGQLVALKK
2:212251748-212251748 T>A	0.0	4320	COLON	-	-	-	1	ERBB4	uc010zjj.1,p.D1078V|NM_005235,p.D1104V|ENST00000402597,p.D1094V|NM_001042599,p.D1088V|ENST00000436443,p.D1088V|ENST00000342788,p.D1104V|uc002veh.1,p.D1088V|uc002veg.1,p.D1104V|uc010zji.1,p.D1094V	retained_intron, protein_coding, processed_transcript	uc010zjj.1	nonsynonymous SNV	exon26	c.A3233T	p.D1078V	PVAQGATAEIFDDSCCNGTLRKPVA	PVAQGATAEIFDVSCCNGTLRKPVA	5.0	6.0	unscreened	-	4320_2:212251748-212251748 T>A_PVAQGATAEIFDVSCCNGTLRKPVA
3:190158078-190158078 G>A	0.0	4320	COLON	-	-	-	-	TMEM207	NM_207316,p.R87C|ENST00000354905,p.R87C|uc003fsj.2,p.R87C	protein_coding	uc003fsj.2	nonsynonymous SNV	exon4	c.C259T	p.R87C	CWLRRPRIDSHRRTMAVFAVGDLDS	CWLRRPRIDSHRCTMAVFAVGDLDS	1.0	9.0	unscreened	-	4320_3:190158078-190158078 G>A_CWLRRPRIDSHRCTMAVFAVGDLDS
19:15917958-15917958 T>G	0.0	4320	COLON	-	-	-	-	OR10H1	uc002nbq.2,p.E297A|NM_013940,p.E297A|ENST00000334920,p.E297A	protein_coding	uc002nbq.2	nonsynonymous SNV	exon1	c.A890C	p.E297A	FLSPIIFSLRNKELKVAMKKTFFSK	FLSPIIFSLRNKALKVAMKKTFFSK	4.0	1.0	unscreened	-	4320_19:15917958-15917958 T>G_FLSPIIFSLRNKALKVAMKKTFFSK
7:155251086-155251086 A>-	0.0	4320	COLON	-	-	-	-	EN2	NM_001427,p.D5fs|uc003wmb.3,p.D5fs|ENST00000297375,p.D5fs	protein_coding	uc003wmb.3	frameshift deletion	exon1	c.14delA	p.D5fs	MEENDPKPGEAAAAVEG	MEENAPSLAKQRRRWRDSGSRNPAPAAARAAAAVAARAKRTPGAGGL	4.0	1.0	unscreened	-	4320_7:155251086-155251086 A>-_MEENAPSLAKQRRRWRDSGSRNPAPAAARAAAAVAARAKRTPGAGGL
1:11589657-11589657 G>A	0.0	4320	COLON	-	-	ID=COSM527597;OCCURENCE=1(lung)	-	PTCHD2	NM_020780,p.R948H|ENST00000294484,p.R948H|uc001ash.4,p.R948H|ENST00000389575,p.R948H	protein_coding, processed_transcript	uc001ash.4	nonsynonymous SNV	exon14	c.G2843A	p.R948H	YFAQSHKPPFHGRVCMAPPGCLLSS	YFAQSHKPPFHGHVCMAPPGCLLSS	3.0	10.0	unscreened	-	4320_1:11589657-11589657 G>A_YFAQSHKPPFHGHVCMAPPGCLLSS
9:117819464-117819464 C>T	0.0	4320	COLON	-	-	-	2	TNC	ENST00000535648,p.R1152Q|NM_002160,p.R1516Q|ENST00000341037,p.R1425Q|ENST00000340094,p.R1152Q|ENST00000350763,p.R1516Q|uc004bjj.4,p.R1516Q	protein_coding, processed_transcript	uc004bjj.4	nonsynonymous SNV	exon15	c.G4547A	p.R1516Q	FIVYLSGLAPSIRTKTISATATTEA	FIVYLSGLAPSIQTKTISATATTEA	8.0	7.0	-	-	4320_9:117819464-117819464 C>T_FIVYLSGLAPSIQTKTISATATTEA
X:106844169-106844169 A>C	0.0	4320	COLON	-	-	-	-	FRMPD3	NM_032428,p.K1000T|uc022cce.1,p.K56T|ENST00000439554,p.K948T|ENST00000276185,p.K1000T	protein_coding, processed_transcript	uc022cce.1	nonsynonymous SNV	exon1	c.A167C	p.K56T	IISAALQQVVHNKSLVTAGGALGNP	IISAALQQVVHNTSLVTAGGALGNP	5.0	5.0	unscreened	-	4320_X:106844169-106844169 A>C_IISAALQQVVHNTSLVTAGGALGNP
4:2986264-2986264 G>A	0.0	4320	COLON	-	-	-	-	GRK4	NM_182982,p.R26H|uc003ggn.1,p.R26H|ENST00000504933,p.R26H|ENST00000398052,p.R26H|uc003ggo.1,p.R26H|NM_001004057,p.R26H	retained_intron, protein_coding, processed_transcript	uc003ggo.1	nonsynonymous SNV	exon2	c.G77A	p.R26H	KARQGGYGKKSGRSKKWKEILTLPP	KARQGGYGKKSGHSKKWKEILTLPP	4.0	10.0	unscreened	-	4320_4:2986264-2986264 G>A_KARQGGYGKKSGHSKKWKEILTLPP
10:118458166-118458166 A>C	0.0	4320	COLON	-	-	-	-	HSPA12A	uc001lct.3,p.F176V|ENST00000369209,p.F176V|uc001lcu.3,p.F93V|NM_025015,p.F176V	retained_intron, protein_coding	uc001lcu.3	nonsynonymous SNV	exon7	c.T277G	p.F93V	KALEIFAYALQYFKEQALKELSDQA	KALEIFAYALQYVKEQALKELSDQA	3.0	2.0	unscreened	-	4320_10:118458166-118458166 A>C_KALEIFAYALQYVKEQALKELSDQA
5:140737129-140737129 A>C	0.0	4320	COLON	-	-	-	-	PCDHGA4	uc003ljp.1,p.S788R|NM_018917,p.S819R|NM_032053,p.S819R|uc003ljq.2,p.S788R|ENST00000571252,p.S788R	protein_coding	uc003ljq.2	nonsynonymous SNV	exon1	c.A2362C	p.S788R	ADTLISRESCEKSEPLLITQDLLET	ADTLISRESCEKREPLLITQDLLET	3.0	1.0	unscreened	-	4320_5:140737129-140737129 A>C_ADTLISRESCEKREPLLITQDLLET
3:142499860-142499860 A>-	0.0	4320	COLON	-	-	-	-	TRPC1	ENST00000273482,p.N283fs|ENST00000476941,p.N317fs|NM_001251845,p.N317fs|NM_003304,p.N283fs|uc003evb.3,p.N283fs|uc003evc.3,p.N317fs	retained_intron, protein_coding, nonsense_mediated_decay	uc003evc.3	frameshift deletion	exon6	c.949delA	p.N317fs	MNLSRLKLAIKYNQKEFVSQSNCQQ	MNLSRLKLAIKYTRKSLSPSLTASSS	4.0	3.0	unscreened	-	4320_3:142499860-142499860 A>-_MNLSRLKLAIKYTRKSLSPSLTASSS
4:151504296-151504296 T>G	0.0	4320	COLON	-	-	-	-	MAB21L2	uc003ilw.3,p.S39A|ENST00000317605,p.S39A|NM_006439,p.S39A	protein_coding	uc003ilw.3	nonsynonymous SNV	exon1	c.T115G	p.S39A	IAKTIREVCKVVSDVLKEVEVQEPR	IAKTIREVCKVVADVLKEVEVQEPR	1.0	6.0	unscreened	-	4320_4:151504296-151504296 T>G_IAKTIREVCKVVADVLKEVEVQEPR
6:160962185-160962185 A>C	0.0	4320	COLON	-	-	-	-	LPA	uc003qtl.3,p.L1850V|ENST00000447678,p.L1850V|NM_005577,p.L1850V|ENST00000316300,p.L1850V	protein_coding, processed_transcript	uc003qtl.3	nonsynonymous SNV	exon36	c.T5548G	p.L1850V	RTRFGKHFCGGTLISPEWVLTAAHC	RTRFGKHFCGGTVISPEWVLTAAHC	1.0	8.0	unscreened	-	4320_6:160962185-160962185 A>C_RTRFGKHFCGGTVISPEWVLTAAHC
19:33089075-33089075 T>A	1.0	4320	COLON	-	-	-	-	ANKRD27	NM_032139,p.Q1043H|ENST00000306065,p.Q1043H|uc002ntn.1,p.Q1043H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ntn.1	nonsynonymous SNV	exon29	c.A3129T	p.Q1043H	QGPEAAGPLSTPQEVSASRS	QGPEAAGPLSTPHEVSASRS	8.0	6.0	-	-	4320_19:33089075-33089075 T>A_QGPEAAGPLSTPHEVSASRS
8:59059126-59059126 A>T	0.0	4320	COLON	-	-	-	-	FAM110B	uc003xtj.1,p.R113W|ENST00000361488,p.R113W|NM_147189,p.R113W|uc022auu.1,p.R113W	protein_coding, processed_transcript	uc022auu.1	nonsynonymous SNV	exon1	c.A337T	p.R113W	FGNHAKTESGVQRENLKLEILKNII	FGNHAKTESGVQWENLKLEILKNII	2.0	7.0	unscreened	-	4320_8:59059126-59059126 A>T_FGNHAKTESGVQWENLKLEILKNII
2:219736425-219736425 G>A	0.0	4320	COLON	-	-	-	-	WNT6	NM_006522,p.D174N|ENST00000233948,p.D174N|uc002vjc.1,p.D174N	protein_coding, processed_transcript	uc002vjc.1	nonsynonymous SNV	exon3	c.G520A	p.D174N	EGSAAWEWGGCGDDVDFGDEKSRLF	EGSAAWEWGGCGNDVDFGDEKSRLF	2.0	10.0	unscreened	-	4320_2:219736425-219736425 G>A_EGSAAWEWGGCGNDVDFGDEKSRLF
2:27804402-27804402 C>T	1.0	4320	COLON	-	-	-	-	C2orf16	ENST00000408964,p.R1655C|uc002rkz.4,p.R1655C|NM_032266,p.R1655C	protein_coding	uc002rkz.4	nonsynonymous SNV	exon1	c.C4963T	p.R1655C	QRRHHSPSERSHRSPSERSHRSSSE	QRRHHSPSERSHCSPSERSHRSSSE	1.0	10.0	unscreened	-	4320_2:27804402-27804402 C>T_QRRHHSPSERSHCSPSERSHRSSSE
19:37677501-37677501 A>C	0.0	4320	COLON	-	-	-	-	ZNF585B	uc002ofq.3,p.L313R|ENST00000531805,p.L258R|NM_152279,p.L313R|uc002ofr.1,p.L127R|ENST00000532828,p.L313R	protein_coding, processed_transcript, nonsense_mediated_decay	uc002ofr.1	nonsynonymous SNV	exon6	c.T380G	p.L127R	NNCGKSFISKSQLQVHQRVHTRVKP	NNCGKSFISKSQRQVHQRVHTRVKP	8.0	4.0	-	-	4320_19:37677501-37677501 A>C_NNCGKSFISKSQRQVHQRVHTRVKP
14:23530551-23530551 C>T	1.0	4320	COLON	-	-	-	-	ACIN1	uc001wiq.4,p.R427H|ENST00000357481,p.R427H|NM_014977,p.R1185H|uc010tnj.2,p.R1145H|uc001wir.4,p.R458H|NM_001164815,p.R1145H|ENST00000557515,p.R426H|ENST00000555053,p.R1172H|uc010akg.3,p.R1172H|ENST00000457657,p.R1145H|NM_001164816,p.R458H|ENST00000605057,p.R1127H|NM_001164817,p.R427H|ENST00000397341,p.R427H|ENST00000262710,p.R1185H|ENST00000338631,p.R458H|uc001wip.4,p.R427H|NM_001164814,p.R1172H|uc001wit.4,p.R1185H|uc001wis.4,p.R866H	retained_intron, protein_coding, processed_transcript	uc010tnj.2	nonsynonymous SNV	exon16	c.G3434A	p.R1145H	GPRSRSRSRDRRRKERAKSKEKKSE	GPRSRSRSRDRRHKERAKSKEKKSE	10.0	10.0	-	-	4320_14:23530551-23530551 C>T_GPRSRSRSRDRRHKERAKSKEKKSE
1:43888832-43888832 G>T	1.0	4320	COLON	-	-	-	-	SZT2	uc009vws.1,p.K700N|NM_015284,p.K700N|ENST00000562955,p.K700N|uc001cjk.3,p.K700N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009vws.1	nonsynonymous SNV	exon15	c.G2100T	p.K700N	ILRLRFPHRVQSKEPTPKVKRKGLG	ILRLRFPHRVQSNEPTPKVKRKGLG	7.0	8.0	-	-	4320_1:43888832-43888832 G>T_ILRLRFPHRVQSNEPTPKVKRKGLG
17:42457974-42457974 A>G	0.0	4320	COLON	-	-	-	-	ITGA2B	ENST00000262407,p.V478A|uc002igt.1,p.V478A|NM_000419,p.V478A|ENST00000353281,p.V478A	retained_intron, protein_coding	uc002igt.1	nonsynonymous SNV	exon14	c.T1433C	p.V478A	LIVGAYGANQVAVYRAQPVVKASVQ	LIVGAYGANQVAAYRAQPVVKASVQ	4.0	8.0	unscreened	-	4320_17:42457974-42457974 A>G_LIVGAYGANQVAAYRAQPVVKASVQ
1:225534252-225534252 T>C	0.0	4320	COLON	-	-	-	-	DNAH14	uc001how.2,p.I3638T|ENST00000430092,p.I3638T|NM_001373,p.I3638T|ENST00000439375,p.I3638T|ENST00000445597,p.I2835T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001how.2	nonsynonymous SNV	exon69	c.T10913C	p.I3638T	TVIMQNNANGNLIQDDIGFLPEEEW	TVIMQNNANGNLTQDDIGFLPEEEW	9.0	7.0	unscreened	-	4320_1:225534252-225534252 T>C_TVIMQNNANGNLTQDDIGFLPEEEW
5:140537188-140537188 G>A	0.0	4320	COLON	-	-	-	-	PCDHB17	ENST00000539533,p.G538S|uc003lis.3,p.G537S	protein_coding	uc003lis.3	nonsynonymous SNV	exon1	c.G1609A	p.G537S	QEFEFRVGASDRGSPALSSEALVRV	QEFEFRVGASDRSSPALSSEALVRV	3.0	10.0	unscreened	-	4320_5:140537188-140537188 G>A_QEFEFRVGASDRSSPALSSEALVRV
11:48286040-48286040 T>G	0.0	4320	COLON	-	-	-	-	OR4X1	NM_001004726,p.F210V|ENST00000320048,p.F210V|uc010rht.2,p.F210V	protein_coding	uc010rht.2	nonsynonymous SNV	exon1	c.T628G	p.F210V	ITNGGSISVVSFFVLMASYLIILHF	ITNGGSISVVSFVVLMASYLIILHF	1.0	7.0	unscreened	-	4320_11:48286040-48286040 T>G_ITNGGSISVVSFVVLMASYLIILHF
11:62297800-62297800 T>G	1.0	4320	COLON	-	-	-	-	AHNAK	uc001ntl.3,p.K1363N|ENST00000378024,p.K1363N|NM_001620,p.K1363N	protein_coding, processed_transcript	uc001ntl.3	nonsynonymous SNV	exon5	c.A4089C	p.K1363N	EMKVPDVDIKGPKVDISAPDVDVHG	EMKVPDVDIKGPNVDISAPDVDVHG	10.0	4.0	-	-	4320_11:62297800-62297800 T>G_EMKVPDVDIKGPNVDISAPDVDVHG
X:5821270-5821270 G>T	0.0	4320	COLON	-	-	-	-	NLGN4X	NM_001282145,p.S483R|NM_001282146,p.S483R|ENST00000381093,p.S503R|uc004crp.3,p.S503R|ENST00000381095,p.S483R|uc010ndj.3,p.S483R|uc010ndi.3,p.S520R|ENST00000538097,p.S483R|uc004crq.3,p.S483R|uc010ndh.3,p.S483R|NM_181332,p.S483R|NM_020742,p.S483R|ENST00000275857,p.S483R|ENST00000381092,p.S483R|uc004crr.3,p.S483R	protein_coding, processed_transcript	uc010ndj.3	nonsynonymous SNV	exon6	c.C1449A	p.S483R	AFYHHCQSEMKPSWADSAHGDEVPY	AFYHHCQSEMKPRWADSAHGDEVPY	3.0	8.0	unscreened	-	4320_X:5821270-5821270 G>T_AFYHHCQSEMKPRWADSAHGDEVPY
7:50198677-50198677 G>A	0.0	4320	COLON	-	-	-	-	C7orf72	NM_001161834,p.R410H|ENST00000297001,p.R410H|uc011kcj.2,p.R410H	protein_coding	uc011kcj.2	nonsynonymous SNV	exon9	c.G1229A	p.R410H	RVFQKEMAVDLFRHQAPLSRLVTTV	RVFQKEMAVDLFHHQAPLSRLVTTV	1.0	8.0	unscreened	-	4320_7:50198677-50198677 G>A_RVFQKEMAVDLFHHQAPLSRLVTTV
11:7092484-7092484 A>C	0.0	4320	COLON	-	-	-	-	NLRP14	ENST00000299481,p.K1076T|uc001mfb.1,p.K1076T|NM_176822,p.K1076T	protein_coding	uc001mfb.1	nonsynonymous SNV	exon12	c.A3227C	p.K1076T	EAVGVSNPHLIIKPDCNYHNEEDVS	EAVGVSNPHLIITPDCNYHNEEDVS	3.0	1.0	unscreened	-	4320_11:7092484-7092484 A>C_EAVGVSNPHLIITPDCNYHNEEDVS
2:179435221-179435221 A>C	0.0	4320	COLON	-	-	-	-	TTN	NM_003319,p.V16148G|uc021vsz.2,p.V16340G|ENST00000460472,p.V16148G|ENST00000342992,p.V22645G|uc021vtb.2,p.V16148G|ENST00000359218,p.V16273G|ENST00000342175,p.V16340G|ENST00000591111,p.V23572G|uc031rqc.1,p.V25213G|uc021vsy.2,p.V22645G|NM_133432,p.V16273G|NM_133437,p.V16340G|NM_001256850,p.V23572G|ENST00000589042,p.V25213G|NM_133378,p.V22645G|NM_001267550,p.V25213G|uc031rqd.1,p.V23572G|uc021vta.2,p.V16273G	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon276	c.T70715G	p.V23572G	VLDRPGPPEGPVVISGVTAEKCTLA	VLDRPGPPEGPVGISGVTAEKCTLA	5.0	1.0	unscreened	-	4320_2:179435221-179435221 A>C_VLDRPGPPEGPVGISGVTAEKCTLA
X:64719826-64719826 G>C	1.0	4320	COLON	-	-	-	-	ZC3H12B	uc010nko.3,p.K349N|ENST00000338957,p.K349N|ENST00000423889,p.K338N|NM_001010888,p.K349N	protein_coding	uc010nko.3	nonsynonymous SNV	exon4	c.G1047C	p.K349N	GRHGPSLENFLRKRPIVPEHKKQPC	GRHGPSLENFLRNRPIVPEHKKQPC	4.0	2.0	unscreened	-	4320_X:64719826-64719826 G>C_GRHGPSLENFLRNRPIVPEHKKQPC
X:69282490-69282490 C>T	0.0	4320	COLON	-	-	-	-	OTUD6A	NM_207320,p.T39M|uc004dxu.1,p.T39M|ENST00000338352,p.T39M	protein_coding	uc004dxu.1	nonsynonymous SNV	exon1	c.C116T	p.T39M	RSLKNSVPKTDKTKRKQLLQDVARM	RSLKNSVPKTDKMKRKQLLQDVARM	1.0	10.0	unscreened	-	4320_X:69282490-69282490 C>T_RSLKNSVPKTDKMKRKQLLQDVARM
9:78790187-78790187 ->GAATGGAATC	0.0	4320	COLON	-	-	-	-	PCSK5	ENST00000376767,p.W681fs|uc004ajy.2,p.W681fs	protein_coding	uc004ajy.2	frameshift insertion	exon14	c.2042_2043insGAATGGAATC	p.W681fs	MKWNGMEWNGMEWNRIESNRIE	MKWNGMEWNGMEWNGIESNRIESNRI	5.0	9.0	unscreened	-	4320_9:78790187-78790187 ->GAATGGAATC_MKWNGMEWNGMEWNGIESNRIESNRI
6:150267780-150267780 A>C	1.0	4320	COLON	-	-	-	-	ULBP2	uc010kij.3,p.S208R	protein_coding	uc010kij.3	nonsynonymous SNV	exon3	c.A622C	p.S208R	DFLMGMDSTLEPSAGG	DFLMGMDSTLEPRAGG	5.0	5.0	unscreened	-	4320_6:150267780-150267780 A>C_DFLMGMDSTLEPRAGG
7:23825173-23825173 A>C	0.0	4320	COLON	-	-	-	-	STK31	ENST00000433467,p.K742T|ENST00000428484,p.K719T|uc010kuq.4,p.K719T|NM_001260505,p.K742T|uc003swt.5,p.K719T|NM_001260504,p.K719T|uc011jze.3,p.K742T|NM_032944,p.K719T|ENST00000354639,p.K719T|uc031swr.1,p.K719T|NM_031414,p.K742T|ENST00000355870,p.K742T|uc003sws.5,p.K742T	retained_intron, protein_coding, processed_transcript	uc031swr.1	nonsynonymous SNV	exon18	c.A2156C	p.K719T	LLDAEPMKELSSKRPLVRSEVNGQI	LLDAEPMKELSSTRPLVRSEVNGQI	5.0	4.0	unscreened	-	4320_7:23825173-23825173 A>C_LLDAEPMKELSSTRPLVRSEVNGQI
21:32127543-32127543 T>A	0.0	4320	COLON	-	-	-	-	KRTAP21-1	uc011adi.2,p.T52S|NM_181619,p.T52S|ENST00000335093,p.T52S	protein_coding	uc011adi.2	nonsynonymous SNV	exon1	c.A154T	p.T52S	CGFGSHYGCGYGTGYGCGYGSGSGY	CGFGSHYGCGYGSGYGCGYGSGSGY	1.0	2.0	unscreened	-	4320_21:32127543-32127543 T>A_CGFGSHYGCGYGSGYGCGYGSGSGY
X:133700645-133700645 T>C	0.0	4320	COLON	-	-	-	-	PLAC1	NM_021796,p.Q23R|uc004exo.1,p.Q23R|uc004exp.1,p.Q23R|ENST00000359237,p.Q23R|uc022cei.1,p.Q23R	protein_coding, processed_transcript	uc022cei.1	nonsynonymous SNV	exon1	c.A68G	p.Q23R	ILLTSAFSAGSGQSPMTVLCSIDWF	ILLTSAFSAGSGRSPMTVLCSIDWF	1.0	7.0	unscreened	-	4320_X:133700645-133700645 T>C_ILLTSAFSAGSGRSPMTVLCSIDWF
2:119915352-119915352 A>T	0.0	4320	COLON	-	-	-	-	C1QL2	uc002tlo.2,p.L165H|ENST00000272520,p.L165H|NM_182528,p.L165H	protein_coding	uc002tlo.2	nonsynonymous SNV	exon1	c.T494A	p.L165H	TFSGPKIAFYVGLKSPHEGYEVLKF	TFSGPKIAFYVGHKSPHEGYEVLKF	1.0	1.0	unscreened	-	4320_2:119915352-119915352 A>T_TFSGPKIAFYVGHKSPHEGYEVLKF
19:22364016-22364016 G>C	0.0	4320	COLON	-	-	-	-	ZNF676	ENST00000397121,p.S168C|NM_001001411,p.S168C|uc002nqs.1,p.S168C	protein_coding	uc002nqs.1	nonsynonymous SNV	exon3	c.C503G	p.S168C	LSQHERIYTRENSYKCEENGKAFNW	LSQHERIYTRENCYKCEENGKAFNW	4.0	7.0	unscreened	-	4320_19:22364016-22364016 G>C_LSQHERIYTRENCYKCEENGKAFNW
8:39847310-39847310 T>A	0.0	4320	COLON	-	-	-	-	IDO2	uc010lwy.1,p.L220Q|ENST00000389060,p.L207Q|ENST00000502986,p.L220Q|NM_194294,p.L220Q	protein_coding, processed_transcript	uc010lwy.1	nonsynonymous SNV	exon8	c.T659A	p.L220Q	PNQEALLQALQRLRLSIQDITKTLG	PNQEALLQALQRQRLSIQDITKTLG	1.0	9.0	unscreened	-	4320_8:39847310-39847310 T>A_PNQEALLQALQRQRLSIQDITKTLG
3:97983491-97983491 A>-	0.0	4320	COLON	-	-	-	-	OR5H6	uc003dsi.1,p.V121fs|NM_001005479,p.V121fs|ENST00000383696,p.V121fs	protein_coding	uc003dsi.1	frameshift deletion	exon1	c.363delA	p.V121fs	SLSECMVQFFSLVTTVTTECFLLAT	SLSECMVQFFSLVPL	1.0	2.0	unscreened	-	4320_3:97983491-97983491 A>-_SLSECMVQFFSLVPL
1:155491162-155491162 C>T	1.0	4320	COLON	-	-	-	-	ASH1L	uc009wqq.3,p.R50H|ENST00000392403,p.R50H|ENST00000548830,p.R50H|NM_018489,p.R50H|ENST00000368346,p.R50H|uc009wqr.1,p.R50H|uc001fkt.3,p.R50H	retained_intron, protein_coding, nonsense_mediated_decay	uc009wqr.1	nonsynonymous SNV	exon3	c.G149A	p.R50H	ELEKNTKEEEDLRKRNRERNIEAGK	ELEKNTKEEEDLHKRNRERNIEAGK	8.0	9.0	-	-	4320_1:155491162-155491162 C>T_ELEKNTKEEEDLHKRNRERNIEAGK
11:124189210-124189210 T>G	0.0	4320	COLON	-	-	-	-	OR8D2	ENST00000357438,p.K295T|NM_001002918,p.K295T|uc010sah.2,p.K295T	protein_coding	uc010sah.2	nonsynonymous SNV	exon1	c.A884C	p.K295T	PMLNPLIYSLRNKDVKNALKKMTRG	PMLNPLIYSLRNTDVKNALKKMTRG	1.0	2.0	unscreened	-	4320_11:124189210-124189210 T>G_PMLNPLIYSLRNTDVKNALKKMTRG
2:211465419-211465419 A>C	0.0	4320	COLON	-	-	-	-	CPS1	NM_001122633,p.S570R|uc002vee.4,p.S564R|NM_001875,p.S564R|uc010fur.3,p.S570R|uc010fus.3,p.S113R|ENST00000430249,p.S570R|NM_001122634,p.S113R|ENST00000451903,p.S113R|ENST00000233072,p.S564R	retained_intron, protein_coding, processed_transcript	uc010fus.3	nonsynonymous SNV	exon5	c.A337C	p.S113R	DKLNEINEKIAPSFAVESIEDALKA	DKLNEINEKIAPRFAVESIEDALKA	4.0	6.0	unscreened	-	4320_2:211465419-211465419 A>C_DKLNEINEKIAPRFAVESIEDALKA
2:95537788-95537788 T>A	0.0	4320	COLON	-	-	-	-	TEKT4	ENST00000427593,p.L155H	retained_intron, protein_coding	ENST00000427593	nonsynonymous SNV	exon1	c.T464A	p.L155H	NLQCRERREHPNLVRDHVETELLKA	NLQCRERREHPNHVRDHVETELLKA	2.0	1.0	unscreened	-	4320_2:95537788-95537788 T>A_NLQCRERREHPNHVRDHVETELLKA
2:95537788-95537788 T>A	0.0	4320	COLON	-	-	-	-	TEKT4	uc002stw.1,p.L155H|NM_144705,p.L155H|ENST00000295201,p.L155H	retained_intron, protein_coding	uc002stw.1	nonsynonymous SNV	exon1	c.T464A	p.L155H	NLQCRERREHPNLVRDHVETELLKE	NLQCRERREHPNHVRDHVETELLKE	2.0	1.0	unscreened	-	4320_2:95537788-95537788 T>A_NLQCRERREHPNHVRDHVETELLKE
16:89764014-89764014 G>A	1.0	4320	COLON	-	-	-	-	SPATA2L	NM_152339,p.R335C|uc002foj.3,p.R335C|ENST00000289805,p.R335C	protein_coding	uc002foj.3	nonsynonymous SNV	exon3	c.C1003T	p.R335C	ATPESSAAASPRRIRAEGVPASAYR	ATPESSAAASPRCIRAEGVPASAYR	4.0	9.0	unscreened	-	4320_16:89764014-89764014 G>A_ATPESSAAASPRCIRAEGVPASAYR
6:129748979-129748979 A>C	0.0	4320	COLON	-	-	-	-	LAMA2	uc003qbn.3,p.K1983T|uc003qbo.3,p.K1983T|ENST00000421865,p.K1983T|NM_001079823,p.K1983T|uc021zfb.1,p.K1983T|NM_000426,p.K1983T	protein_coding, processed_transcript	uc021zfb.1	nonsynonymous SNV	exon41	c.A5948C	p.K1983T	LQKSFRILNEAKKLANDVKENEDHL	LQKSFRILNEAKTLANDVKENEDHL	1.0	7.0	unscreened	-	4320_6:129748979-129748979 A>C_LQKSFRILNEAKTLANDVKENEDHL
19:54632507-54632507 C>G	0.0	4320	COLON	-	-	-	-	PRPF31	ENST00000391755,p.R402G|ENST00000321030,p.R408G|uc002qdh.2,p.R408G|NM_015629,p.R408G|uc021vbi.1,p.R408G	retained_intron, protein_coding, processed_transcript	uc021vbi.1	nonsynonymous SNV	exon13	c.C1222G	p.R408G	LGHLGKSGSGRVRQTQVNEATKARI	LGHLGKSGSGRVGQTQVNEATKARI	10.0	2.0	-	-	4320_19:54632507-54632507 C>G_LGHLGKSGSGRVGQTQVNEATKARI
20:3654003-3654003 G>A	0.0	4320	COLON	-	-	-	-	ADAM33	uc010zqh.1,p.P403L	protein_coding, processed_transcript	uc010zqh.1	nonsynonymous SNV	exon10	c.C1208T	p.P403L	RPSPEAASWLRPPGTRVGGRGCGGA	RPSPEAASWLRPLGTRVGGRGCGGA	2.0	9.0	unscreened	-	4320_20:3654003-3654003 G>A_RPSPEAASWLRPLGTRVGGRGCGGA
8:86574771-86574771 T>G	0.0	4320	COLON	-	-	-	-	REXO1L2P	uc022axf.1,p.E319A|ENST00000379010,p.E319A	protein_coding	uc022axf.1	nonsynonymous SNV	exon1	c.A956C	p.E319A	ECLKFCASKQEAEEKALNEEKVAYD	ECLKFCASKQEAAEKALNEEKVAYD	1.0	4.0	unscreened	-	4320_8:86574771-86574771 T>G_ECLKFCASKQEAAEKALNEEKVAYD
22:30824484-30824484 A>C	1.0	4320	COLON	-	-	-	-	MTFP1	ENST00000355143,p.Q77H|uc003ahx.2,p.Q77H|NM_001003704,p.Q77H	 protein_coding,retained_intron, nonsense_mediated_decay	uc003ahx.2	nonsynonymous SNV	exon3	c.A231C	p.Q77H	EVGGFPPGLQPAQALPNSGEAQLLL	EVGGFPPGLQPAHALPNSGEAQLLL	6.0	4.0	-	-	4320_22:30824484-30824484 A>C_EVGGFPPGLQPAHALPNSGEAQLLL
7:72727281-72727281 T>G	0.0	4320	COLON	-	-	-	-	TRIM50	NM_178125,p.K367T|ENST00000333149,p.K367T|uc003txy.1,p.K367T|ENST00000453152,p.K367T|NM_001281450,p.K366T|uc003txz.1,p.K366T|uc010lbd.1,p.K367T|NM_001281451,p.K367T	retained_intron, protein_coding, processed_transcript	uc010lbd.1	nonsynonymous SNV	exon7	c.A1100C	p.K367T	VGSKSDWRLGVIKGTASRKGKLNRS	VGSKSDWRLGVITGTASRKGKLNRS	5.0	2.0	unscreened	-	4320_7:72727281-72727281 T>G_VGSKSDWRLGVITGTASRKGKLNRS
X:9862697-9862697 G>A	0.0	4320	COLON	-	-	-	-	SHROOM2	ENST00000380913,p.R250Q|uc004csu.1,p.R250Q|NM_001649,p.R250Q	protein_coding, processed_transcript	uc004csu.1	nonsynonymous SNV	exon4	c.G749A	p.R250Q	TVGLWEAPRQGGRQAQAAGDPQGSE	TVGLWEAPRQGGQQAQAAGDPQGSE	5.0	9.0	unscreened	-	4320_X:9862697-9862697 G>A_TVGLWEAPRQGGQQAQAAGDPQGSE
3:36931409-36931409 T>C	1.0	4320	COLON	-	-	-	-	TRANK1	NM_014831,p.E229G|uc003cgj.3,p.E229G|ENST00000429976,p.E229G	protein_coding, processed_transcript	uc003cgj.3	nonsynonymous SNV	exon7	c.A686G	p.E229G	NHLFRWLMDHKPEWKGRINQKDGDG	NHLFRWLMDHKPGWKGRINQKDGDG	7.0	2.0	-	-	4320_3:36931409-36931409 T>C_NHLFRWLMDHKPGWKGRINQKDGDG
19:41040012-41040012 A>G	0.0	4320	COLON	-	-	-	-	SPTBN4	uc010egx.3,p.K117R|uc002onz.3,p.K1374R|NM_025213,p.K50R|ENST00000392025,p.K117R|ENST00000392023,p.K50R|uc002onx.3,p.K1374R|uc002ony.3,p.K1374R|NM_020971,p.K1374R|ENST00000595535,p.K1374R|uc010egy.1,p.K50R|uc002ooa.3,p.K50R|ENST00000598249,p.K1374R|ENST00000338932,p.K1374R|uc010egz.1,p.K50R|ENST00000352632,p.K1374R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010egz.1	nonsynonymous SNV	exon3	c.A149G	p.K50R	KIEREGQQLMQEKPELAASVRKKLG	KIEREGQQLMQERPELAASVRKKLG	2.0	2.0	unscreened	-	4320_19:41040012-41040012 A>G_KIEREGQQLMQERPELAASVRKKLG
X:130415915-130415915 T>G	0.0	4320	COLON	-	-	-	-	IGSF1	uc004ewe.4,p.K417T|ENST00000370910,p.K408T|uc022cdv.1,p.K408T|NM_001170962,p.K408T|uc004ewf.2,p.K397T|uc004ewd.3,p.K417T|ENST00000370903,p.K417T|NM_001555,p.K417T|ENST00000370904,p.K408T|ENST00000361420,p.K417T|NM_001170961,p.K417T	protein_coding, processed_transcript	uc022cdv.1	nonsynonymous SNV	exon7	c.A1223C	p.K408T	PSHNTVELMVVDKPPKPSLSAWPST	PSHNTVELMVVDTPPKPSLSAWPST	1.0	2.0	unscreened	-	4320_X:130415915-130415915 T>G_PSHNTVELMVVDTPPKPSLSAWPST
21:44483184-44483184 A>G	0.0	4320	COLON	-	-	-	-	CBS	uc002zct.2,p.I278T|uc002zcs.1,p.I173T|NM_000071,p.I278T|ENST00000398168,p.I278T|ENST00000398165,p.I278T|ENST00000359624,p.I278T|NM_001178008,p.I278T|uc002zcv.2,p.I278T|NM_001178009,p.I278T|ENST00000544202,p.I190T|ENST00000398158,p.I278T|ENST00000352178,p.I278T|uc002zcu.2,p.I278T|uc002zcw.3,p.I278T	retained_intron, protein_coding, processed_transcript	uc002zcw.3	nonsynonymous SNV	exon10	c.T833C	p.I278T	RKLKEKCPGCRIIGVDPEGSILAEP	RKLKEKCPGCRITGVDPEGSILAEP	5.0	8.0	unscreened	-	4320_21:44483184-44483184 A>G_RKLKEKCPGCRITGVDPEGSILAEP
1:152278210-152278210 C>T	0.0	4320	COLON	-	-	-	-	FLG	uc001ezu.1,p.R3051Q|NM_002016,p.R3051Q|ENST00000368799,p.R3051Q	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.G9152A	p.R3051Q	SHQQSHQESARGRSGETSGHSGSFL	SHQQSHQESARGQSGETSGHSGSFL	1.0	9.0	unscreened	-	4320_1:152278210-152278210 C>T_SHQQSHQESARGQSGETSGHSGSFL
6:4996270-4996270 T>C	0.0	4320	COLON	-	-	-	-	RPP40	NM_001286132,p.S247G|NM_001286133,p.S228G|uc003mwl.3,p.S270G|ENST00000319533,p.S247G|NM_006638,p.S270G|ENST00000464646,p.S210G|uc003mwm.3,p.S247G|ENST00000380051,p.S270G	retained_intron, protein_coding, nonsense_mediated_decay	uc003mwm.3	nonsynonymous SNV	exon6	c.A739G	p.S247G	NNFISTYCCPEPSTVVAKAYLCTIT	NNFISTYCCPEPGTVVAKAYLCTIT	6.0	3.0	-	-	4320_6:4996270-4996270 T>C_NNFISTYCCPEPGTVVAKAYLCTIT
4:141888914-141888914 A>C	0.0	4320	COLON	-	-	-	-	RNF150	uc010iok.1,p.L200V|ENST00000306799,p.L200V	protein_coding, processed_transcript	uc010iok.1	nonsynonymous SNV	exon2	c.T598G	p.L200V	TVTMYITIGTRNLQKYRRLGDAAKK	TVTMYITIGTRNVQKYRRLGDAAKK	3.0	5.0	unscreened	-	4320_4:141888914-141888914 A>C_TVTMYITIGTRNVQKYRRLGDAAKK
17:3379686-3379686 T>A	0.0	4320	COLON	-	-	-	-	ASPA	uc002fvq.3,p.L78H|uc010ckg.3,p.L78H|ENST00000263080,p.L78H|ENST00000456349,p.L78H|NM_000049,p.L78H|NM_001128085,p.L78H	protein_coding, nonsense_mediated_decay	uc010ckg.3	nonsynonymous SNV	exon2	c.T233A	p.L78H	DCDLNRIFDLENLGKKMSEDLPYEV	DCDLNRIFDLENHGKKMSEDLPYEV	1.0	9.0	unscreened	-	4320_17:3379686-3379686 T>A_DCDLNRIFDLENHGKKMSEDLPYEV
5:120022282-120022282 G>-	0.0	4320	COLON	-	-	-	-	PRR16	ENST00000446965,p.G195fs|ENST00000505123,p.G195fs|uc003ksp.3,p.G242fs|uc003ksr.3,p.G195fs|uc003ksq.3,p.G265fs|ENST00000407149,p.G265fs|ENST00000379551,p.G242fs|NM_016644,p.G242fs|NM_001300783,p.G265fs	protein_coding	uc003ksr.3	frameshift deletion	exon3	c.583delG	p.G195fs	PTPHLPPFPLENGGMGISHSNSFPP	PTPHLPPFPLENGEWE	4.0	9.0	unscreened	-	4320_5:120022282-120022282 G>-_PTPHLPPFPLENGEWE
X:1585057-1585057 T>G	0.0	4320	COLON	-	-	-	1	P2RY8	uc004cpz.2,p.K132T|uc022brv.1,p.K132T|ENST00000381297,p.K132T|NM_178129,p.K132T	protein_coding, processed_transcript	uc022brv.1	nonsynonymous SNV	exon1	c.A395C	p.K132T	ERFLGVLYPLSSKRWRRRRYAVAAC	ERFLGVLYPLSSTRWRRRRYAVAAC	3.0	2.0	unscreened	-	4320_X:1585057-1585057 T>G_ERFLGVLYPLSSTRWRRRRYAVAAC
17:12655869-12655869 A>G	0.0	4320	COLON	-	-	-	-	MYOCD	uc002gnq.2,p.T141A|ENST00000343344,p.T422A|NM_001146312,p.T422A|ENST00000395988,p.T326A|uc002gnn.2,p.T422A|ENST00000425538,p.T422A|ENST00000443061,p.T127A|uc002gno.2,p.T422A|uc002gnp.1,p.T326A|NM_153604,p.T422A	protein_coding, nonsense_mediated_decay	uc002gnq.2	nonsynonymous SNV	exon3	c.A421G	p.T141A	NPVPNFGDITTVTFPVTPNTLPNYQ	NPVPNFGDITTVAFPVTPNTLPNYQ	3.0	5.0	unscreened	-	4320_17:12655869-12655869 A>G_NPVPNFGDITTVAFPVTPNTLPNYQ
6:24146122-24146122 T>G	0.0	4320	COLON	-	-	-	-	NRSN1	uc010jpq.1,p.I179S|ENST00000378491,p.I179S|NM_080723,p.I179S	protein_coding, processed_transcript	uc010jpq.1	nonsynonymous SNV	exon4	c.T536G	p.I179S	PVTKAPGPGETKIPVTLSRVQNVQP	PVTKAPGPGETKSPVTLSRVQNVQP	1.0	5.0	unscreened	-	4320_6:24146122-24146122 T>G_PVTKAPGPGETKSPVTLSRVQNVQP
17:36700117-36700117 C>T	1.0	4320	COLON	-	-	-	-	SRCIN1	NM_025248,p.D1120N|uc002hqd.3,p.D1120N|ENST00000264659,p.D1120N|uc002hqf.1,p.D992N|uc002hqe.2,p.D1015N|ENST00000578925,p.D1154N	retained_intron, protein_coding, processed_transcript	uc002hqf.1	nonsynonymous SNV	exon14	c.G2974A	p.D992N	RLKAAQGQAGSPDKSKHGKQRAEYM	RLKAAQGQAGSPNKSKHGKQRAEYM	7.0	9.0	-	-	4320_17:36700117-36700117 C>T_RLKAAQGQAGSPNKSKHGKQRAEYM
5:70858183-70858183 A>T	1.0	4320	COLON	-	-	-	-	BDP1	uc003kbp.1,p.S2527C|ENST00000525844,p.S549C|NM_018429,p.S2527C|ENST00000358731,p.S2527C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003kbp.1	nonsynonymous SNV	exon38	c.A7579T	p.S2527C	NSLESDEPMQVHSKKRLKPLIPGLR	NSLESDEPMQVHCKKRLKPLIPGLR	8.0	8.0	-	-	4320_5:70858183-70858183 A>T_NSLESDEPMQVHCKKRLKPLIPGLR
12:54943661-54943661 A>G	0.0	4320	COLON	-	-	-	-	PDE1B	ENST00000550285,p.E2G|ENST00000243052,p.E2G|uc001sgd.2,p.E2G|NM_000924,p.E2G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sgd.2	nonsynonymous SNV	exon2	c.A5G	p.E2G	MELSPRSPPEMLEE	MGLSPRSPPEMLEE	4.0	2.0	unscreened	-	4320_12:54943661-54943661 A>G_MGLSPRSPPEMLEE
4:1985834-1985834 G>C	1.0	4320	COLON	-	-	-	-	NELFA	ENST00000411638,p.S348C|ENST00000416258,p.S352C|NM_005663,p.S359C|uc003gen.3,p.S213C|uc003gel.3,p.S273C|uc003gek.3,p.S85C|ENST00000542778,p.S213C|uc003gem.3,p.S359C|ENST00000382882,p.S359C	retained_intron, protein_coding, nonsense_mediated_decay	uc003gen.3	nonsynonymous SNV	exon8	c.C638G	p.S213C	SYIPSSETPPAPSSREASRPPEEPS	SYIPSSETPPAPCSREASRPPEEPS	6.0	7.0	-	-	4320_4:1985834-1985834 G>C_SYIPSSETPPAPCSREASRPPEEPS
19:58117911-58117911 C>T	0.0	4320	COLON	-	-	ID=COSM1397134;OCCURENCE=1(large_intestine)	-	ZNF530	uc002qpk.2,p.R340C|ENST00000332854,p.R340C|ENST00000600619,p.R340C|NM_020880,p.R340C	retained_intron, protein_coding, nonsense_mediated_decay	uc002qpk.2	nonsynonymous SNV	exon3	c.C1018T	p.R340C	CGKSFSHSTNLYRHRSAHTSTRPYE	CGKSFSHSTNLYCHRSAHTSTRPYE	5.0	8.0	unscreened	-	4320_19:58117911-58117911 C>T_CGKSFSHSTNLYCHRSAHTSTRPYE
6:35473943-35473943 T>C	0.0	4320	COLON	-	-	-	-	TULP1	uc003okw.4,p.E226G|ENST00000322263,p.E226G|ENST00000229771,p.E279G|NM_001289395,p.E226G|uc021yyx.1,p.E279G|uc003okv.4,p.E279G|NM_003322,p.E279G	retained_intron, protein_coding	uc021yyx.1	nonsynonymous SNV	exon10	c.A836G	p.E279G	KAKGKGKKKAKEERAPSPPVEVDEP	KAKGKGKKKAKEGRAPSPPVEVDEP	1.0	2.0	unscreened	-	4320_6:35473943-35473943 T>C_KAKGKGKKKAKEGRAPSPPVEVDEP
16:1748838-1748838 G>C	1.0	4320	COLON	-	-	-	-	HN1L	ENST00000562684,p.E166Q|NM_144570,p.E138Q|uc002cmg.3,p.E138Q|ENST00000382710,p.E126Q|ENST00000248098,p.E138Q|uc010uvi.2,p.E166Q|ENST00000565851,p.E122Q|uc010uvk.2,p.E125Q|ENST00000382711,p.E122Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010uvk.2	nonsynonymous SNV	exon5	c.G373C	p.E125Q	DLKAARSIPAGAEPGEKGSARKAGP	DLKAARSIPAGAQPGEKGSARKAGP	10.0	4.0	-	-	4320_16:1748838-1748838 G>C_DLKAARSIPAGAQPGEKGSARKAGP
6:35473943-35473943 T>C	0.0	4320	COLON	-	-	-	-	TULP1	uc021yyy.1,p.E278G	retained_intron, protein_coding	uc021yyy.1	nonsynonymous SNV	exon10	c.A833G	p.E278G	GKAKGKGKKKAEERAPSPPVEVDEP	GKAKGKGKKKAEGRAPSPPVEVDEP	1.0	2.0	unscreened	-	4320_6:35473943-35473943 T>C_GKAKGKGKKKAEGRAPSPPVEVDEP
16:20556493-20556493 A>C	0.0	4320	COLON	-	-	-	-	ACSM2B	uc010bwf.1,p.F423V|uc002dhk.4,p.F423V|NM_182617,p.F423V|ENST00000565322,p.F344V|NM_001105069,p.F423V|ENST00000329697,p.F423V|ENST00000565232,p.F423V|ENST00000567001,p.F423V|uc002dhj.4,p.F423V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bwf.1	nonsynonymous SNV	exon10	c.T1267G	p.F423V	GIRVKPIRPIGIFSGYVENPDKTAA	GIRVKPIRPIGIVSGYVENPDKTAA	1.0	3.0	unscreened	-	4320_16:20556493-20556493 A>C_GIRVKPIRPIGIVSGYVENPDKTAA
17:42744292-42744292 A>C	0.0	4320	COLON	-	-	-	-	C17orf104	uc002iha.3,p.K338T|ENST00000409122,p.K338T|ENST00000409464,p.K172T|NM_001145080,p.K338T|ENST00000359945,p.K338T|uc002igy.1,p.K172T|uc002igz.3,p.K172T	protein_coding, processed_transcript, nonsense_mediated_decay	uc002iha.3	nonsynonymous SNV	exon5	c.A1013C	p.K338T	CRYPEYVHPNKAKLNKCSNFSVQDS	CRYPEYVHPNKATLNKCSNFSVQDS	1.0	4.0	unscreened	-	4320_17:42744292-42744292 A>C_CRYPEYVHPNKATLNKCSNFSVQDS
19:434853-434853 C>T	1.0	4320	COLON	0.0023	-	ID=COSM997545;OCCURENCE=1(endometrium)	-	SHC2	ENST00000590170,p.R36Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000590170	nonsynonymous SNV	exon2	c.G107A	p.R36Q	PRWRCPQKGWQGRRSRPGGTRRTLW	PRWRCPQKGWQGQRSRPGGTRRTLW	7.0	8.0	unscreened	-	4320_19:434853-434853 C>T_PRWRCPQKGWQGQRSRPGGTRRTLW
3:157160563-157160563 A>C	0.0	4320	COLON	-	-	-	-	PTX3	NM_002852,p.K314T|ENST00000295927,p.K314T|uc003fbl.4,p.K314T	protein_coding	uc003fbl.4	nonsynonymous SNV	exon3	c.A941C	p.K314T	VPEGGILQIGQEKNGCCVGGGFDET	VPEGGILQIGQETNGCCVGGGFDET	3.0	3.0	unscreened	-	4320_3:157160563-157160563 A>C_VPEGGILQIGQETNGCCVGGGFDET
12:100995425-100995425 T>G	0.0	4320	COLON	-	-	-	-	GAS2L3	uc001thu.3,p.V66G|uc009zty.3,p.V66G|ENST00000539410,p.V66G|NM_174942,p.V66G|ENST00000547754,p.V66G|ENST00000266754,p.V66G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zty.3	nonsynonymous SNV	exon4	c.T197G	p.V66G	LSIWLSGLLGIKVKAEKLLEELDNG	LSIWLSGLLGIKGKAEKLLEELDNG	6.0	5.0	-	-	4320_12:100995425-100995425 T>G_LSIWLSGLLGIKGKAEKLLEELDNG
15:89400010-89400010 A>C	0.0	4320	COLON	-	-	-	-	ACAN	ENST00000561243,p.E1398D|NM_001135,p.E1398D|uc010upo.1,p.E1398D|ENST00000352105,p.E1398D|NM_013227,p.E1398D|ENST00000439576,p.E1398D|uc010upp.1,p.E1398D|ENST00000559004,p.E1398D	retained_intron, protein_coding	uc010upp.1	nonsynonymous SNV	exon12	c.A4194C	p.E1398D	PGVEDISGLPSGEVLETTAPGVEEI	PGVEDISGLPSGDVLETTAPGVEEI	5.0	8.0	unscreened	-	4320_15:89400010-89400010 A>C_PGVEDISGLPSGDVLETTAPGVEEI
4:6107507-6107507 T>G	0.0	4320	COLON	-	-	-	-	JAKMIP1	uc010idd.1,p.K106T|uc010ide.3,p.K106T|ENST00000473053,p.K106T|uc003giv.4,p.K106T|NM_144720,p.K106T|uc010idb.1,p.K106T|ENST00000282924,p.K106T|NM_001099433,p.K106T|ENST00000409831,p.K106T|uc003giu.4,p.K106T|ENST00000409021,p.K106T	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ide.3	nonsynonymous SNV	exon3	c.A317C	p.K106T	QHEQEAARTAKIKEGELQRLQATLN	QHEQEAARTAKITEGELQRLQATLN	3.0	3.0	unscreened	-	4320_4:6107507-6107507 T>G_QHEQEAARTAKITEGELQRLQATLN
7:94881101-94881101 A>T	1.0	4320	COLON	-	-	-	-	PPP1R9A	NM_001166160,p.E808D|uc010lfj.3,p.E808D|NM_017650,p.E786D|ENST00000433881,p.E786D|uc003unp.3,p.E786D|uc011kig.2,p.E786D|ENST00000424654,p.E786D|ENST00000340694,p.E786D|uc003unq.3,p.E786D|ENST00000289495,p.E786D|NM_001166161,p.E786D|ENST00000456331,p.E786D|uc011kif.2,p.E786D|ENST00000433360,p.E808D|NM_001166163,p.E786D|NM_001166162,p.E786D	protein_coding	uc011kig.2	nonsynonymous SNV	exon9	c.A2358T	p.E786D	FQQKELDFIKRQEAERKKIEDLEKA	FQQKELDFIKRQDAERKKIEDLEKA	8.0	8.0	-	-	4320_7:94881101-94881101 A>T_FQQKELDFIKRQDAERKKIEDLEKA
21:39671265-39671265 C>T	0.0	4320	COLON	-	-	-	-	KCNJ15	NM_170736,p.R28C|ENST00000548700,p.R28C|ENST00000547341,p.R28C|uc002ywx.4,p.R28C|uc031rvj.1,p.R28C|ENST00000398938,p.R28C|uc002yww.4,p.R28C|NM_001276437,p.R28C|uc021wjc.1,p.R28C|ENST00000398934,p.R28C|ENST00000398932,p.R28C|ENST00000419868,p.R28C|uc031rvl.1,p.R28C|ENST00000549932,p.R28C|ENST00000398927,p.R28C|NM_001276438,p.R28C|NM_001276436,p.R28C|ENST00000398928,p.R28C|ENST00000547595,p.R28C|ENST00000398925,p.R28C|NM_001276435,p.R28C|ENST00000438657,p.R28C|uc031rvm.1,p.R28C|ENST00000549805,p.R28C|NM_002243,p.R28C|uc031rvk.1,p.R28C|ENST00000551422,p.R28C|uc031rvn.1,p.R28C|NM_170737,p.R28C|NM_001276439,p.R28C|ENST00000398930,p.R28C|ENST00000328656,p.R28C|uc002ywv.4,p.R28C	protein_coding	uc031rvn.1	nonsynonymous SNV	exon5	c.C82T	p.R28C	HTAGAGLKANRPRVMSKSGHSNVRI	HTAGAGLKANRPCVMSKSGHSNVRI	5.0	4.0	unscreened	-	4320_21:39671265-39671265 C>T_HTAGAGLKANRPCVMSKSGHSNVRI
20:13867068-13867068 T>G	0.0	4320	COLON	-	-	-	-	SEL1L2	ENST00000378072,p.S256R|NM_001271539,p.S256R|ENST00000284951,p.S256R|uc002woq.5,p.S117R|uc010zrl.3,p.S256R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010zrl.3	nonsynonymous SNV	exon9	c.A766C	p.S256R	KVADYIADTFEKSEGVPVEKVRLTE	KVADYIADTFEKREGVPVEKVRLTE	1.0	7.0	unscreened	-	4320_20:13867068-13867068 T>G_KVADYIADTFEKREGVPVEKVRLTE
11:113076791-113076791 T>C	0.0	4320	COLON	-	-	-	-	NCAM1	NM_181351,p.Y173H|ENST00000316851,p.Y163H|ENST00000533760,p.Y55H|NM_001242608,p.Y173H|NM_000615,p.Y173H|ENST00000401611,p.Y172H|ENST00000524665,p.Y232H|uc001pno.3,p.Y55H|NM_001076682,p.Y173H|NM_001242607,p.Y173H	retained_intron, protein_coding, processed_transcript	uc001pno.3	nonsynonymous SNV	exon5	c.T163C	p.Y55H	KKDVRFIVLSNNYLQIRGIKKTDEG	KKDVRFIVLSNNHLQIRGIKKTDEG	4.0	5.0	unscreened	-	4320_11:113076791-113076791 T>C_KKDVRFIVLSNNHLQIRGIKKTDEG
7:94056954-94056954 C>T	0.0	4320	COLON	-	-	-	-	COL1A2	uc003ung.1,p.P1095S|ENST00000297268,p.P1095S|NM_000089,p.P1095S	retained_intron, protein_coding	uc003ung.1	nonsynonymous SNV	exon49	c.C3283T	p.P1095S	QGHQGPAGPPGPPGPPGPPGVSGGG	QGHQGPAGPPGPSGPPGPPGVSGGG	10.0	8.0	-	-	4320_7:94056954-94056954 C>T_QGHQGPAGPPGPSGPPGPPGVSGGG
17:38938681-38938681 C>A	0.0	4320	COLON	-	-	-	-	KRT27	ENST00000301656,p.R22M|NM_181537,p.R22M|uc002hvg.3,p.R22M	protein_coding, processed_transcript	uc002hvg.3	nonsynonymous SNV	exon1	c.G65T	p.R22M	RRLGSCGGTGSVRLSSGGAGFGAGN	RRLGSCGGTGSVMLSSGGAGFGAGN	1.0	9.0	unscreened	-	4320_17:38938681-38938681 C>A_RRLGSCGGTGSVMLSSGGAGFGAGN
13:111077201-111077201 C>A	0.0	4320	COLON	-	-	-	-	COL4A2	ENST00000360467,p.P101T|uc001vqx.3,p.P101T|NM_001846,p.P101T	protein_coding, processed_transcript	uc001vqx.3	nonsynonymous SNV	exon5	c.C301A	p.P101T	DKGERGAPGVTGPKGDVGARGVSGF	DKGERGAPGVTGTKGDVGARGVSGF	9.0	7.0	-	-	4320_13:111077201-111077201 C>A_DKGERGAPGVTGTKGDVGARGVSGF
2:166536108-166536108 T>G	0.0	4320	COLON	-	-	-	-	CSRNP3	uc002udg.3,p.L535V|ENST00000314499,p.L535V|NM_001172173,p.L535V|ENST00000409420,p.L567V|uc002udf.3,p.L535V|ENST00000342316,p.L535V|NM_024969,p.L535V	protein_coding, processed_transcript	uc002udg.3	nonsynonymous SNV	exon5	c.T1603G	p.L535V	RSNHPQVEFHSYLKGPSQEGFVSAL	RSNHPQVEFHSYVKGPSQEGFVSAL	3.0	3.0	unscreened	-	4320_2:166536108-166536108 T>G_RSNHPQVEFHSYVKGPSQEGFVSAL
4:89618556-89618556 A>G	0.0	4320	COLON	-	-	-	-	NAP1L5	ENST00000323061,p.L117P|NM_153757,p.L117P|uc003hrx.3,p.L117P	protein_coding	uc003hrx.3	nonsynonymous SNV	exon1	c.T350C	p.L117P	LEKKYNDIYKPLLAKIQELTGEMEG	LEKKYNDIYKPLPAKIQELTGEMEG	2.0	3.0	unscreened	-	4320_4:89618556-89618556 A>G_LEKKYNDIYKPLPAKIQELTGEMEG
6:13597242-13597242 T>G	1.0	4320	COLON	-	-	-	-	SIRT5	NM_012241,p.L204R|NM_001242827,p.L96R|ENST00000397350,p.L96R|ENST00000606117,p.L204R|NM_031244,p.L204R|uc003nay.3,p.L204R|uc003nax.3,p.L96R|ENST00000379262,p.L204R|uc003naw.3,p.L204R	protein_coding	uc003nay.3	nonsynonymous SNV	exon7	c.T611G	p.L204R	PGTQDASIPVEKLPRCEEAGCGGLL	PGTQDASIPVEKRPRCEEAGCGGLL	7.0	7.0	-	-	4320_6:13597242-13597242 T>G_PGTQDASIPVEKRPRCEEAGCGGLL
6:29364871-29364871 T>G	0.0	4320	COLON	0.0046	-	-	-	OR12D2	ENST00000383555,p.V132G|NM_013936,p.V132G|uc003nmf.4,p.V132G	protein_coding	uc003nmf.4	nonsynonymous SNV	exon1	c.T395G	p.V132G	LSVAICKPLRYTVIMNPQLCTQMAI	LSVAICKPLRYTGIMNPQLCTQMAI	1.0	5.0	unscreened	-	4320_6:29364871-29364871 T>G_LSVAICKPLRYTGIMNPQLCTQMAI
1:46073339-46073339 A>C	1.0	4320	COLON	-	-	-	-	NASP	ENST00000402363,p.E254D|uc001cok.2,p.E135D|uc010olr.2,p.E188D|NM_001195193,p.E188D|uc021omz.1,p.E254D|uc010olq.2,p.E215D|ENST00000470768,p.E215D|uc001coi.2,p.E252D|NM_002482,p.E252D|ENST00000350030,p.E252D|ENST00000537798,p.E188D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021omz.1	nonsynonymous SNV	exon7	c.A762C	p.E254D	EEEKSVSGTDVQEECREKGGQEKQG	EEEKSVSGTDVQDECREKGGQEKQG	10.0	3.0	-	-	4320_1:46073339-46073339 A>C_EEEKSVSGTDVQDECREKGGQEKQG
1:159170627-159170627 A>C	0.0	4320	COLON	-	-	-	-	CADM3	NM_001127173,p.D371A|uc001ftl.2,p.D371A|ENST00000368125,p.D371A|uc001ftk.2,p.D405A|ENST00000368124,p.D405A|NM_021189,p.D405A	protein_coding, processed_transcript	uc001ftl.2	nonsynonymous SNV	exon9	c.A1112C	p.D371A	KGTYLTHEAKGSDDAPDADTAIINA	KGTYLTHEAKGSADAPDADTAIINA	4.0	2.0	unscreened	-	4320_1:159170627-159170627 A>C_KGTYLTHEAKGSADAPDADTAIINA
19:43376051-43376051 A>C	0.0	4320	COLON	-	-	-	-	PSG1	NM_001297773,p.L193V|ENST00000312439,p.L193V|uc002ovb.3,p.L193V|NM_001184825,p.L193V|uc002ovd.1,p.L193V|uc002oug.1,p.L193V|ENST00000595930,p.L122V|NM_001184826,p.L193V|ENST00000436291,p.L193V|NM_006905,p.L193V|ENST00000595356,p.L193V|uc002ouz.2,p.L193V|ENST00000244296,p.L193V	retained_intron, protein_coding, processed_transcript	uc002ovd.1	nonsynonymous SNV	exon3	c.T577G	p.L193V	WMNGQSLPMTHSLKLSETNRTLFLL	WMNGQSLPMTHSVKLSETNRTLFLL	1.0	7.0	unscreened	-	4320_19:43376051-43376051 A>C_WMNGQSLPMTHSVKLSETNRTLFLL
4:174450353-174450353 C>T	0.0	4320	COLON	-	-	-	-	HAND2	uc003ith.1,p.A30T|NM_021973,p.A30T|uc003itg.1,p.A30T|ENST00000359562,p.A30T	protein_coding, processed_transcript, nonsense_mediated_decay	uc003ith.1	nonsynonymous SNV	exon1	c.G88A	p.A30T	YPFAAAAAAAAAAAASRCSHEENPY	YPFAAAAAAAAATAASRCSHEENPY	1.0	8.0	unscreened	-	4320_4:174450353-174450353 C>T_YPFAAAAAAAAATAASRCSHEENPY
2:131797641-131797641 A>G	0.0	4320	COLON	-	-	-	-	ARHGEF4	NM_015320,p.N267S|ENST00000355771,p.N196S|ENST00000409303,p.N267S|uc002tsa.1,p.N267S|ENST00000392953,p.N267S|uc010fmx.1,p.N267S|NM_032995,p.N267S|uc002tsb.1,p.N267S|ENST00000326016,p.N267S|ENST00000525839,p.N267S	retained_intron, protein_coding, processed_transcript	uc010fmx.1	nonsynonymous SNV	exon5	c.A800G	p.N267S	DEPADDDAPLAGNSGAEDGGAEAQS	DEPADDDAPLAGSSGAEDGGAEAQS	4.0	8.0	unscreened	-	4320_2:131797641-131797641 A>G_DEPADDDAPLAGSSGAEDGGAEAQS
X:49192814-49192814 A>T	0.0	4320	COLON	-	-	-	-	GAGE13,GAGE2E,GAGE8	NM_012196,p.E109D	protein_coding	NM_012196	nonsynonymous SNV	exon4	c.A327T	p.E109D	DPPNPEEVKTPEEGEKQSQC	DPPNPEEVKTPEDGEKQSQC	1.0	8.0	unscreened	-	4320_X:49192814-49192814 A>T_DPPNPEEVKTPEDGEKQSQC
8:109797071-109797071 A>G	0.0	4320	COLON	-	-	-	-	TMEM74	NM_153015,p.L86P|uc003ymy.1,p.L86P|ENST00000297459,p.L86P|uc022azr.1,p.L86P	protein_coding, processed_transcript	uc022azr.1	nonsynonymous SNV	exon1	c.T257C	p.L86P	STLQPDAFPPGLLHSGNNQITAERK	STLQPDAFPPGLPHSGNNQITAERK	1.0	8.0	unscreened	-	4320_8:109797071-109797071 A>G_STLQPDAFPPGLPHSGNNQITAERK
X:49192814-49192814 A>T	0.0	4320	COLON	-	-	-	-	GAGE13,GAGE2E,GAGE8	NM_001098412,p.E109D|uc022bwc.1,p.E109D|uc011mnf.2,p.E109D|uc011mne.2,p.E108D	protein_coding	uc022bwc.1	nonsynonymous SNV	exon4	c.A327T	p.E109D	MDPPNPEEVKTPEEGEKQSQC	MDPPNPEEVKTPDEGEKQSQC	1.0	8.0	unscreened	-	4320_X:49192814-49192814 A>T_MDPPNPEEVKTPDEGEKQSQC
2:220342643-220342643 T>G	0.0	4320	COLON	-	-	-	-	SPEG	NM_005876,p.L1615V|ENST00000312358,p.L1615V|uc010fwg.3,p.L1615V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fwg.3	nonsynonymous SNV	exon22	c.T4843G	p.L1615V	IHQEIGRGAFSYLRRIVERSSGLEF	IHQEIGRGAFSYVRRIVERSSGLEF	4.0	6.0	unscreened	-	4320_2:220342643-220342643 T>G_IHQEIGRGAFSYVRRIVERSSGLEF
4:141888914-141888914 A>C	0.0	4320	COLON	-	-	-	-	RNF150	uc003iio.1,p.L200V|ENST00000515673,p.L200V|ENST00000506101,p.L31V|ENST00000420921,p.L59V|ENST00000507500,p.L200V|NM_020724,p.L200V|ENST00000379512,p.L59V|uc003iip.1,p.L200V	protein_coding, processed_transcript	uc003iip.1	nonsynonymous SNV	exon2	c.T598G	p.L200V	TVTMYITIGTRNLQKYVSRTSVVFV	TVTMYITIGTRNVQKYVSRTSVVFV	3.0	5.0	unscreened	-	4320_4:141888914-141888914 A>C_TVTMYITIGTRNVQKYVSRTSVVFV
9:116187646-116187648 GCA>-	0.0	4320	COLON	-	-	ID=COSM1489590;OCCURENCE=2(breast)	-	C9orf43	ENST00000288462,p.296_297del|uc004bho.4,p.296_297del|NM_001278630,p.314_315del|NM_152786,p.296_297del|NM_001278629,p.296_297del|uc004bhp.3,p.296_297del|ENST00000374165,p.296_297del	protein_coding, processed_transcript	uc004bhp.3	nonframeshift deletion	exon10	c.888_890del	p.296_297del	NLKTEGYRKQQQRQQQQQQQQKKVK	NLKTEGYRKQQQRQQQQQQQKKVKT	3.0	2.0	unscreened	-	4320_9:116187646-116187648 GCA>-_NLKTEGYRKQQQRQQQQQQQKKVKT
X:49192814-49192814 A>T	0.0	4320	COLON	-	-	-	-	GAGE13,GAGE2E,GAGE8	ENST00000381751,p.E109D	protein_coding	ENST00000381751	nonsynonymous SNV	exon4	c.A327T	p.E109D	MDPPNPEEVKTPEEGKKQSQC	MDPPNPEEVKTPDEGKKQSQC	1.0	8.0	unscreened	-	4320_X:49192814-49192814 A>T_MDPPNPEEVKTPDEGKKQSQC
22:25586741-25586741 A>C	1.0	4320	COLON	-	-	-	-	KIAA1671	uc003abn.3,p.Q1805H|ENST00000401395,p.Q312H|ENST00000358431,p.Q1805H|uc003abl.3,p.Q312H|ENST00000406486,p.Q1805H|NM_001145206,p.Q1805H	retained_intron, protein_coding	uc003abn.3	nonsynonymous SNV	exon10	c.A5415C	p.Q1805H	LKSKKRQSLYENQV	LKSKKRQSLYENHV	7.0	4.0	-	-	4320_22:25586741-25586741 A>C_LKSKKRQSLYENHV
17:39334112-39334112 C>T	0.0	4320	COLON	-	-	ID=COSM1212892,COSM124047;OCCURENCE=2(pancreas),1(large_intestine),1(upper_aerodigestive_tract)	-	KRTAP4-2	ENST00000377726,p.R102H	protein_coding	ENST00000377726	nonsynonymous SNV	exon1	c.G305A	p.R102H	CCQSVYCQPTCCRPSCGQTTCCRTT	CCQSVYCQPTCCHPSCGQTTCCRTT	1.0	8.0	unscreened	-	4320_17:39334112-39334112 C>T_CCQSVYCQPTCCHPSCGQTTCCRTT
17:39334112-39334112 C>T	0.0	4320	COLON	-	-	ID=COSM1212892,COSM124047;OCCURENCE=2(pancreas),1(large_intestine),1(upper_aerodigestive_tract)	-	KRTAP4-2	NM_033062,p.R102H|uc002hwd.3,p.R102H	protein_coding	uc002hwd.3	nonsynonymous SNV	exon1	c.G305A	p.R102H	CCQSVCCQPTCCRPSCGQTTCCRTT	CCQSVCCQPTCCHPSCGQTTCCRTT	1.0	8.0	unscreened	-	4320_17:39334112-39334112 C>T_CCQSVCCQPTCCHPSCGQTTCCRTT
3:25638015-25638015 A>C	0.0	4320	COLON	-	-	-	-	RARB	uc003cdi.2,p.S307R|uc003cdh.3,p.S419R|ENST00000458646,p.S307R|NM_001290217,p.S307R|NM_001290216,p.S426R|ENST00000404969,p.S426R|ENST00000330688,p.S419R|NM_016152,p.S307R|NM_001290300,p.S376R|NM_001290266,p.S370R|NM_000965,p.S419R|ENST00000437042,p.S307R|NM_001290276,p.S307R|uc011awl.2,p.S426R|NM_001290277,p.S373R	protein_coding, processed_transcript	uc011awl.2	nonsynonymous SNV	exon8	c.A1276C	p.S426R	LENSEGHEPLTPSSSGNTAEHSPSI	LENSEGHEPLTPRSSGNTAEHSPSI	5.0	8.0	unscreened	-	4320_3:25638015-25638015 A>C_LENSEGHEPLTPRSSGNTAEHSPSI
9:89771545-89771545 T>G	0.0	4320	COLON	-	-	-	-	C9orf170	NM_001001709,p.F76V|uc004apa.1,p.F76V|ENST00000375941,p.F76V	protein_coding	uc004apa.1	nonsynonymous SNV	exon2	c.T226G	p.F76V	LTNTVEDIQIDNFRRKSDLGVGSPD	LTNTVEDIQIDNVRRKSDLGVGSPD	1.0	4.0	unscreened	-	4320_9:89771545-89771545 T>G_LTNTVEDIQIDNVRRKSDLGVGSPD
17:72287272-72287272 G>T	0.0	4320	COLON	-	-	-	-	DNAI2	NM_023036,p.A242S|ENST00000446837,p.A242S|uc002jkf.3,p.A242S|NM_001172810,p.A242S|ENST00000579490,p.A299S|ENST00000307504,p.A99S|ENST00000311014,p.A242S|ENST00000582036,p.A242S|uc002jkg.3,p.A242S	retained_intron, protein_coding, nonsense_mediated_decay	uc002jkg.3	nonsynonymous SNV	exon6	c.G724T	p.A242S	HVLLGGCYNGQIACWDTRKGSLVAE	HVLLGGCYNGQISCWDTRKGSLVAE	4.0	9.0	unscreened	-	4320_17:72287272-72287272 G>T_HVLLGGCYNGQISCWDTRKGSLVAE
X:49192814-49192814 A>T	0.0	4320	COLON	-	-	-	-	GAGE13,GAGE2E,GAGE8	uc022bwb.1,p.E109D|NM_001127200,p.E109D	protein_coding	uc022bwb.1	nonsynonymous SNV	exon4	c.A327T	p.E109D	DPPNPEEVKTPEEGKKQSQC	DPPNPEEVKTPEDGKKQSQC	1.0	8.0	unscreened	-	4320_X:49192814-49192814 A>T_DPPNPEEVKTPEDGKKQSQC
9:72006558-72006558 G>C	0.0	4320	COLON	-	-	-	-	FAM189A2	uc010moo.1,p.A135P	protein_coding, processed_transcript	uc010moo.1	nonsynonymous SNV	exon7	c.G403C	p.A135P	GPIAAQHIQGPQAALAETAWPAAPP	GPIAAQHIQGPQPALAETAWPAAPP	4.0	6.0	unscreened	-	4320_9:72006558-72006558 G>C_GPIAAQHIQGPQPALAETAWPAAPP
19:9088172-9088172 T>G	0.0	4320	COLON	-	-	-	2	MUC16	NM_024690,p.S1215R|ENST00000397910,p.S1215R|uc002mkp.3,p.S1215R	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.A3643C	p.S1215R	PSNIPTSGAIGKSTLVPLDTPSPAT	PSNIPTSGAIGKRTLVPLDTPSPAT	4.0	7.0	unscreened	-	4320_19:9088172-9088172 T>G_PSNIPTSGAIGKRTLVPLDTPSPAT
15:84539554-84539554 T>G	0.0	4320	COLON	-	-	-	-	ADAMTSL3	NM_001301110,p.F268C|NM_207517,p.F268C|uc002bjz.4,p.F268C|ENST00000567476,p.F268C|uc010bmt.1,p.F268C|ENST00000286744,p.F268C	retained_intron, protein_coding, processed_transcript	uc010bmt.1	nonsynonymous SNV	exon9	c.T803G	p.F268C	SVRITVKGPAHLFIESKTLQGSKGE	SVRITVKGPAHLCIESKTLQGSKGE	4.0	3.0	unscreened	-	4320_15:84539554-84539554 T>G_SVRITVKGPAHLCIESKTLQGSKGE
11:89609034-89609034 C>T	0.0	4320	COLON	-	-	-	-	TRIM64B	uc021qoo.1,p.R51H|ENST00000329862,p.R51H|NM_001164397,p.R51H	protein_coding	uc021qoo.1	nonsynonymous SNV	exon1	c.G152A	p.R51H	LCLCSEEGRAPMRCPSCRKTSEKPN	LCLCSEEGRAPMHCPSCRKTSEKPN	1.0	8.0	unscreened	-	4320_11:89609034-89609034 C>T_LCLCSEEGRAPMHCPSCRKTSEKPN
11:20959386-20959386 A>C	0.0	4320	COLON	-	-	-	-	NELL1	uc001mqe.3,p.K351T|uc001mqf.3,p.K351T|uc009yid.3,p.K379T|ENST00000298925,p.K379T|uc010rdp.2,p.K111T|uc010rdo.2,p.K294T|NM_006157,p.K351T|ENST00000532434,p.K351T|NM_001288714,p.K294T|NM_201551,p.K351T|ENST00000357134,p.K351T|ENST00000325319,p.K294T|NM_001288713,p.K379T	retained_intron, protein_coding, processed_transcript	uc010rdp.2	nonsynonymous SNV	exon7	c.A332C	p.K111T	GKVLAEGQRILTKSCRECRGGVLVK	GKVLAEGQRILTTSCRECRGGVLVK	1.0	5.0	unscreened	-	4320_11:20959386-20959386 A>C_GKVLAEGQRILTTSCRECRGGVLVK
4:104080384-104080384 A>G	1.0	4320	COLON	-	-	-	-	CENPE	uc003hxc.1,p.L770P|NM_001286734,p.L770P|ENST00000503705,p.L795P|ENST00000265148,p.L795P|uc003hxb.1,p.L795P|ENST00000380026,p.L770P|NM_001813,p.L795P	retained_intron, protein_coding, processed_transcript	uc003hxc.1	nonsynonymous SNV	exon21	c.T2309C	p.L770P	EVVHKESRVQGLLEEIGKTKDDLAT	EVVHKESRVQGLPEEIGKTKDDLAT	5.0	6.0	unscreened	-	4320_4:104080384-104080384 A>G_EVVHKESRVQGLPEEIGKTKDDLAT
8:143996536-143996536 T>G	0.0	4320	COLON	-	-	-	-	CYP11B2	NM_000498,p.K174T|uc003yxk.1,p.K174T|ENST00000323110,p.K174T	protein_coding	uc003yxk.1	nonsynonymous SNV	exon3	c.A521C	p.K174T	DAVARDFSQALKKKVLQNARGSLTL	DAVARDFSQALKTKVLQNARGSLTL	1.0	3.0	unscreened	-	4320_8:143996536-143996536 T>G_DAVARDFSQALKTKVLQNARGSLTL
7:103185625-103185625 G>T	0.0	4320	COLON	-	-	-	-	RELN	NM_173054,p.P2157T|uc022ajr.1,p.P2157T|ENST00000343529,p.P2157T|ENST00000424685,p.P2157T|ENST00000428762,p.P2157T|uc022ajq.1,p.P2157T|NM_005045,p.P2157T|uc010liz.3,p.P2157T	retained_intron, protein_coding, processed_transcript	uc022ajr.1	nonsynonymous SNV	exon42	c.C6469A	p.P2157T	GTKCICDPGYSGPTCKISTKNPDFL	GTKCICDPGYSGTTCKISTKNPDFL	4.0	6.0	unscreened	-	4320_7:103185625-103185625 G>T_GTKCICDPGYSGTTCKISTKNPDFL
5:129040030-129040030 A>C	0.0	4320	COLON	-	-	ID=COSM1432922;OCCURENCE=1(large_intestine)	-	ADAMTS19	ENST00000274487,p.E1080D|uc003kvb.1,p.E1080D|NM_133638,p.E1080D	protein_coding, processed_transcript, nonsense_mediated_decay	uc003kvb.1	nonsynonymous SNV	exon21	c.A3240C	p.E1080D	KKCVLSTRPREAEDCEDYSKCYVWR	KKCVLSTRPREADDCEDYSKCYVWR	4.0	4.0	unscreened	-	4320_5:129040030-129040030 A>C_KKCVLSTRPREADDCEDYSKCYVWR
7:100681819-100681819 A>C	0.0	4320	COLON	-	-	-	-	MUC17	ENST00000306151,p.Q2374H|ENST00000379439,p.Q2374H|NM_001040105,p.Q2374H|uc003uxp.1,p.Q2374H	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.A7122C	p.Q2374H	PADTSTPVTTYSQAGSSPTTADDTS	PADTSTPVTTYSHAGSSPTTADDTS	4.0	3.0	unscreened	-	4320_7:100681819-100681819 A>C_PADTSTPVTTYSHAGSSPTTADDTS
9:72006558-72006558 G>C	0.0	4320	COLON	-	-	-	-	FAM189A2	ENST00000257515,p.K397N|ENST00000303068,p.K232N|NM_004816,p.K397N|NM_001127608,p.K397N|ENST00000377216,p.K184N|uc010mon.1,p.K397N|ENST00000455972,p.K397N|uc004ahg.2,p.K397N	protein_coding, processed_transcript	uc010mon.1	nonsynonymous SNV	exon11	c.G1191C	p.K397N	MAPLQPSTSRAHKLPSRRQPGLLHL	MAPLQPSTSRAHNLPSRRQPGLLHL	4.0	6.0	unscreened	-	4320_9:72006558-72006558 G>C_MAPLQPSTSRAHNLPSRRQPGLLHL
19:6444163-6444163 T>G	1.0	4320	COLON	-	-	-	-	SLC25A23	ENST00000601322,p.Q68H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000601322	nonsynonymous SNV	exon2	c.A204C	p.Q68H	YPLALVRTRMQAQGSSDSPASASRV	YPLALVRTRMQAHGSSDSPASASRV	6.0	5.0	unscreened	-	4320_19:6444163-6444163 T>G_YPLALVRTRMQAHGSSDSPASASRV
12:10603731-10603731 A>C	0.0	4320	COLON	-	-	-	-	KLRC1	NM_007328,p.S9A|NM_213658,p.S9A|ENST00000359151,p.S9A|ENST00000347831,p.S9A|ENST00000544822,p.S9A|uc001qyl.3,p.S9A|uc009zhm.2,p.S9A|uc001qyo.3,p.S9A|uc001qyn.3,p.S9A|ENST00000408006,p.S9A|ENST00000536188,p.S9A|NM_213657,p.S9A|uc001qym.3,p.S9A|NM_002259,p.S9A	retained_intron, protein_coding	uc009zhm.2	nonsynonymous SNV	exon3	c.T25G	p.S9A	MDNQGVIYSDLNLPPNPKRQQ	MDNQGVIYADLNLPPNPKRQQ	2.0	6.0	unscreened	-	4320_12:10603731-10603731 A>C_MDNQGVIYADLNLPPNPKRQQ
11:108264079-108264079 T>G	0.0	4320	COLON	-	-	-	-	C11orf65	ENST00000529391,p.K196T|uc001pkh.3,p.K196T|ENST00000393084,p.K196T|NM_152587,p.K196T|ENST00000533583,p.K178T|ENST00000527531,p.K196T|uc010rvx.1,p.K147T|ENST00000525729,p.K147T	protein_coding, processed_transcript, nonsense_mediated_decay	uc010rvx.1	nonsynonymous SNV	exon5	c.A440C	p.K147T	MRQMYYSGSLEAKSTHHETLGLIHT	MRQMYYSGSLEATSTHHETLGLIHT	4.0	6.0	unscreened	-	4320_11:108264079-108264079 T>G_MRQMYYSGSLEATSTHHETLGLIHT
14:94046707-94046707 A>C	0.0	4320	COLON	-	-	-	-	UNC79	ENST00000553484,p.E882D|ENST00000555664,p.E882D|NM_020818,p.E705D|uc001ybs.1,p.E705D|ENST00000393151,p.E882D|uc001ybv.1,p.E705D|ENST00000256339,p.E705D	retained_intron, protein_coding	uc001ybv.1	nonsynonymous SNV	exon16	c.A2115C	p.E705D	LACELLERLAPKEESRLVEPTDSLE	LACELLERLAPKDESRLVEPTDSLE	1.0	4.0	unscreened	-	4320_14:94046707-94046707 A>C_LACELLERLAPKDESRLVEPTDSLE
18:580455-580455 A>C	0.0	4320	COLON	-	-	-	-	CETN1	ENST00000327228,p.K16T|NM_004066,p.K16T|uc002kko.1,p.K16T	protein_coding	uc002kko.1	nonsynonymous SNV	exon1	c.A47C	p.K16T	GFKKPSAASTGQKRKVAPKPELTED	GFKKPSAASTGQTRKVAPKPELTED	1.0	5.0	unscreened	-	4320_18:580455-580455 A>C_GFKKPSAASTGQTRKVAPKPELTED
8:24775265-24775265 T>G	0.0	4320	COLON	-	-	-	-	NEFM	ENST00000433454,p.S257A|uc003xed.4,p.S633A|NM_005382,p.S633A|NM_001105541,p.S257A|uc010lue.3,p.S257A|ENST00000221166,p.S633A	protein_coding, processed_transcript	uc010lue.3	nonsynonymous SNV	exon3	c.T769G	p.S257A	PVEEKGKSPVPKSPVEEKGKSPVPK	PVEEKGKSPVPKAPVEEKGKSPVPK	3.0	7.0	unscreened	-	4320_8:24775265-24775265 T>G_PVEEKGKSPVPKAPVEEKGKSPVPK
12:13208617-13208617 C>T	0.0	4320	COLON	-	-	-	-	KIAA1467	NM_020853,p.A57V|uc001rbi.3,p.A57V|ENST00000416494,p.A57V|ENST00000197268,p.A57V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rbi.3	nonsynonymous SNV	exon2	c.C170T	p.A57V	GGVKNGKSPLGEAPEPDSDAEVAEA	GGVKNGKSPLGEVPEPDSDAEVAEA	5.0	7.0	unscreened	-	4320_12:13208617-13208617 C>T_GGVKNGKSPLGEVPEPDSDAEVAEA
5:131878794-131878794 G>T	0.0	4320	COLON	-	-	-	-	IL5	NM_000879,p.H57N|uc003kxe.1,p.H57N|ENST00000231454,p.H57N	retained_intron, protein_coding	uc003kxe.1	nonsynonymous SNV	exon2	c.C169A	p.H57N	IANETLRIPVPVHKNHQLCTEEIFQ	IANETLRIPVPVNKNHQLCTEEIFQ	1.0	5.0	unscreened	-	4320_5:131878794-131878794 G>T_IANETLRIPVPVNKNHQLCTEEIFQ
5:131878794-131878794 G>T	0.0	4320	COLON	-	-	-	-	IL5	ENST00000450655,p.H23N	retained_intron, protein_coding	ENST00000450655	nonsynonymous SNV	exon2	c.C67A	p.H23N	PGSGTLRIPVPVHKNHQLCTEEIFQ	PGSGTLRIPVPVNKNHQLCTEEIFQ	1.0	5.0	unscreened	-	4320_5:131878794-131878794 G>T_PGSGTLRIPVPVNKNHQLCTEEIFQ
1:216497565-216497565 T>G	0.0	4320	COLON	-	-	-	-	USH2A	ENST00000366942,p.K425Q|uc001hku.1,p.K425Q|NM_206933,p.K425Q|NM_007123,p.K425Q|ENST00000307340,p.K425Q|uc001hkv.3,p.K425Q|ENST00000366943,p.K425Q	retained_intron, protein_coding	uc001hkv.3	nonsynonymous SNV	exon7	c.A1273C	p.K425Q	QYFARNCGAFGMKNNGDLEKPDSVN	QYFARNCGAFGMQNNGDLEKPDSVN	1.0	4.0	unscreened	-	4320_1:216497565-216497565 T>G_QYFARNCGAFGMQNNGDLEKPDSVN
5:140811756-140811756 A>C	0.0	4320	COLON	-	-	-	-	PCDHGA12	NM_032094,p.H477P|ENST00000252085,p.H477P|NM_003735,p.H477P|uc003lkt.2,p.H477P|uc011dba.2,p.H477P	protein_coding	uc011dba.2	nonsynonymous SNV	exon1	c.A1430C	p.H477P	NPRGVSLVSVTAHDPDCEENAQITY	NPRGVSLVSVTAPDPDCEENAQITY	5.0	4.0	unscreened	-	4320_5:140811756-140811756 A>C_NPRGVSLVSVTAPDPDCEENAQITY
4:174450166-174450166 A>C	0.0	4320	COLON	-	-	-	-	HAND2	NM_021973,p.L92R|uc003ith.1,p.L92R|ENST00000359562,p.L92R	protein_coding, processed_transcript, nonsense_mediated_decay	uc003ith.1	nonsynonymous SNV	exon1	c.T275G	p.L92R	YGGVPPGAGPPGLGGPRPVKRRGTA	YGGVPPGAGPPGRGGPRPVKRRGTA	1.0	4.0	unscreened	-	4320_4:174450166-174450166 A>C_YGGVPPGAGPPGRGGPRPVKRRGTA
7:100377121-100377121 A>C	0.0	4320	COLON	-	-	-	-	ZAN	ENST00000538115,p.N2123T|ENST00000546213,p.N634T|ENST00000542585,p.N2123T|ENST00000546292,p.N2123T|uc011kke.2,p.N211T	protein_coding, polymorphic_pseudogene	uc011kke.2	nonsynonymous SNV	exon5	c.A632C	p.N211T	VDEQQIPAEQQENPSGNCRAADLRR	VDEQQIPAEQQETPSGNCRAADLRR	1.0	5.0	unscreened	-	4320_7:100377121-100377121 A>C_VDEQQIPAEQQETPSGNCRAADLRR
1:176664987-176664987 A>C	0.0	4320	COLON	-	-	-	-	PAPPA2	NM_020318,p.E913A|uc001gkz.3,p.E913A|ENST00000367662,p.E913A	protein_coding, processed_transcript	uc001gkz.3	nonsynonymous SNV	exon7	c.A2738C	p.E913A	RVCDSSGYWTPEEAVGPPDVDQPCE	RVCDSSGYWTPEAAVGPPDVDQPCE	1.0	6.0	unscreened	-	4320_1:176664987-176664987 A>C_RVCDSSGYWTPEAAVGPPDVDQPCE
3:121208903-121208903 A>C	0.0	4320	COLON	-	-	-	1	POLQ	NM_199420,p.L959V|ENST00000264233,p.L959V|uc003eed.3,p.L131V|uc003eee.4,p.L959V	protein_coding, processed_transcript	uc003eee.4	nonsynonymous SNV	exon16	c.T2875G	p.L959V	SYIKHSPNIVQDLNKSREHTSSFNC	SYIKHSPNIVQDVNKSREHTSSFNC	5.0	6.0	unscreened	-	4320_3:121208903-121208903 A>C_SYIKHSPNIVQDVNKSREHTSSFNC
1:152326610-152326610 A>C	0.0	4320	COLON	-	-	-	-	FLG2	uc001ezw.4,p.L1218V|ENST00000388718,p.L1218V|NM_001014342,p.L1218V	protein_coding	uc001ezw.4	nonsynonymous SNV	exon3	c.T3652G	p.L1218V	GQYGSGSGQSTGLGQGESQQVESGS	GQYGSGSGQSTGVGQGESQQVESGS	1.0	6.0	unscreened	-	4320_1:152326610-152326610 A>C_GQYGSGSGQSTGVGQGESQQVESGS
15:49170780-49170780 T>C	1.0	4326	BREAST	-	-	-	-	EID1	uc001zxc.1,p.L136P|ENST00000530028,p.L136P|NM_014335,p.L136P|ENST00000560490,p.L114P	protein_coding, processed_transcript	uc001zxc.1	nonsynonymous SNV	exon1	c.T407C	p.L136P	VSAALEEADKMFLRTREPALDGGFQ	VSAALEEADKMFPRTREPALDGGFQ	9.0	9.0	-	-	4326_15:49170780-49170780 T>C_VSAALEEADKMFPRTREPALDGGFQ
15:74467621-74467621 C>T	1.0	4326	BREAST	-	-	-	-	ISLR	ENST00000249842,p.A141V|uc002axg.1,p.A141V|ENST00000395118,p.A141V|NM_201526,p.A141V|NM_005545,p.A141V|ENST00000560862,p.A141V|uc021sqf.1,p.A141V|uc002axh.1,p.A141V	protein_coding	uc021sqf.1	nonsynonymous SNV	exon1	c.C422T	p.A141V	MDSNELTFIPRDAFRSLRALRSLQL	MDSNELTFIPRDVFRSLRALRSLQL	9.0	9.0	CD8	-	4326_15:74467621-74467621 C>T_MDSNELTFIPRDVFRSLRALRSLQL
16:14978319-14978319 G>C	1.0	4326	BREAST	-	-	ID=COSM3817243;OCCURENCE=1(breast)	-	NOMO1	uc002dcv.3,p.E1068Q|NM_014287,p.E1068Q|ENST00000287667,p.E1068Q	retained_intron, protein_coding, processed_transcript	uc002dcv.3	nonsynonymous SNV	exon27	c.G3202C	p.E1068Q	QFDLSGNVITSSEYLPTLWVKLYKS	QFDLSGNVITSSQYLPTLWVKLYKS	10.0	1.0	-	-	4326_16:14978319-14978319 G>C_QFDLSGNVITSSQYLPTLWVKLYKS
20:60892794-60892794 T>G	1.0	4326	BREAST	-	-	-	-	LAMA5	uc021wfw.1,p.Q2427P|uc002ycq.3,p.Q2427P|NM_005560,p.Q2427P|ENST00000252999,p.Q2427P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wfw.1	nonsynonymous SNV	exon54	c.A7280C	p.Q2427P	RKQELSRDNATLQATLHAARDTLAS	RKQELSRDNATLPATLHAARDTLAS	9.0	3.0	-	-	4326_20:60892794-60892794 T>G_RKQELSRDNATLPATLHAARDTLAS
10:75553742-75553742 C>G	1.0	4326	BREAST	-	-	-	-	ZSWIM8	uc001jvi.3,p.F278L|uc010qkr.2,p.F278L|NM_001242488,p.F855L|ENST00000492395,p.F474L|ENST00000605216,p.F855L|ENST00000433366,p.F848L|uc001jve.3,p.F855L|uc001jvf.3,p.F855L|ENST00000604524,p.F855L|NM_001242487,p.F855L|ENST00000398706,p.F855L|ENST00000603114,p.F822L|NM_015037,p.F855L|ENST00000604729,p.F855L|uc001jvj.3,p.F855L|uc009xrl.3,p.F855L	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qkr.2	nonsynonymous SNV	exon3	c.C834G	p.F278L	VLSERPEHHNLAFRVGMFALELQRP	VLSERPEHHNLALRVGMFALELQRP	9.0	3.0	-	-	4326_10:75553742-75553742 C>G_VLSERPEHHNLALRVGMFALELQRP
12:7252304-7252316 CTCCCCATCCTGT>-	1.0	4326	BREAST	-	-	-	-	C1RL	uc001qsn.3,p.R219fs|ENST00000266542,p.R219fs|NM_016546,p.R219fs|NM_001297640,p.R177fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001qsn.3	frameshift deletion	exon5	c.657_669del	p.R219fs	ALTCATPGTWKDRQDGEEVLQCMPVC	ALTCATPGTWKDRRFFSVCLSADGQSPPLPRIRRPSVLPEPSWATSPGKPSPVSTAVGAGPCWGTDGSSLLPTPSTPRTVFLSGRTRV	7.0	5.0	-	-	4326_12:7252304-7252316 CTCCCCATCCTGT>-_ALTCATPGTWKDRRFFSVCLSADGQSPPLPRIRRPSVLPEPSWATSPGKPSPVSTAVGAGPCWGTDGSSLLPTPSTPRTVFLSGRTRV
2:204074016-204074016 T>C	1.0	4326	BREAST	-	-	-	-	NBEAL1	ENST00000414576,p.S572P|NM_001114132,p.S2557P|ENST00000449802,p.S2557P|uc002uzu.3,p.S52P|uc021vvj.1,p.S1191P|uc002uzt.3,p.S2557P	retained_intron, protein_coding, processed_transcript	uc021vvj.1	nonsynonymous SNV	exon24	c.T3571C	p.S1191P	LAISWEGHIVVYSSTEEKTTLKDKN	LAISWEGHIVVYPSTEEKTTLKDKN	8.0	10.0	-	-	4326_2:204074016-204074016 T>C_LAISWEGHIVVYPSTEEKTTLKDKN
14:36785951-36785951 A>-	1.0	4326	BREAST	-	-	-	-	MBIP	NM_016586,p.F66fs|uc001wtm.2,p.F66fs|uc001wtn.2,p.F66fs|uc001wto.2,p.F66fs|ENST00000416007,p.F66fs|ENST00000318473,p.F66fs|ENST00000359527,p.F66fs|NM_001144891,p.F66fs|ENST00000604160,p.F24fs	protein_coding, processed_transcript	uc001wto.2	frameshift deletion	exon2	c.197delT	p.F66fs	TIDWNKLQSLSAFQPALLFSALEQHI	TIDWNKLQSLSASSLHCSLVHLNNTFYIYSLF	7.0	8.0	-	-	4326_14:36785951-36785951 A>-_TIDWNKLQSLSASSLHCSLVHLNNTFYIYSLF
1:1247685-1247685 G>T	1.0	4326	BREAST	-	-	-	-	CPSF3L	uc009vjz.2,p.R488S|uc010nyj.2,p.R481S|NM_001256463,p.R409S|ENST00000435064,p.R510S|NM_017871,p.R510S|NM_001256456,p.R516S|uc001aeg.2,p.R386S|NM_001256462,p.R412S|NM_001256460,p.R481S|ENST00000540437,p.R516S|ENST00000450926,p.R488S|ENST00000545578,p.R481S|uc001aeh.2,p.R409S|uc001aef.2,p.R516S|ENST00000419704,p.R409S|ENST00000411962,p.R412S|uc001aei.2,p.R412S|uc001aek.2,p.R252S|uc001aee.2,p.R510S|ENST00000421495,p.R252S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010nyj.2	nonsynonymous SNV	exon16	c.C1441A	p.R481S	ALKELGLAEHQLRFTCRVHLHDTRK	ALKELGLAEHQLSFTCRVHLHDTRK	9.0	1.0	-	-	4326_1:1247685-1247685 G>T_ALKELGLAEHQLSFTCRVHLHDTRK
12:123351891-123351891 ->G	1.0	4326	BREAST	-	-	ID=COSM289047;OCCURENCE=1(large_intestine)	-	VPS37B	ENST00000267202,p.P210fs|uc001udl.3,p.P210fs|NM_024667,p.P210fs	retained_intron, protein_coding	uc001udl.3	frameshift insertion	exon4	c.629dupC	p.P210fs	GPPAVAPRRIPPPPPPVPAGRLATP	GPPAVAPRRIPPPTTPGACGTLSHPVYCGHEFGTGRAVPRITVPAPAPPRGPPHSARILFAVRVPISATSPSETPAPAPSTPAGFHPPV	8.0	10.0	-	translated beyond stop codon reached end of cDNA PR	4326_12:123351891-123351891 ->G_GPPAVAPRRIPPPTTPGACGTLSHPVYCGHEFGTGRAVPRITVPAPAPPRGPPHSARILFAVRVPISATSPSETPAPAPSTPAGFHPPV
14:36785951-36785951 A>-	1.0	4326	BREAST	-	-	-	-	MBIP	ENST00000604336,p.F66fs	protein_coding, processed_transcript	ENST00000604336	frameshift deletion	exon2	c.197delT	p.F66fs	TIDWNKLQSLSAFQPALLFSALEQHI	TIDWNKLQSLSASSLHCSLVHLNNTFYIYRWNCVVLSLF	7.0	8.0	unscreened	-	4326_14:36785951-36785951 A>-_TIDWNKLQSLSASSLHCSLVHLNNTFYIYRWNCVVLSLF
1:170521235-170521235 C>-	1.0	4326	BREAST	-	-	-	-	GORAB	ENST00000367763,p.L273fs|uc009wvx.2,p.L93fs|NM_152281,p.L273fs|uc001ghd.2,p.L66fs|uc001gha.2,p.L273fs|uc001ghb.2,p.L93fs|uc001ghc.2,p.L93fs	protein_coding, processed_transcript	uc009wvx.2	frameshift deletion	exon5	c.277delC	p.L93fs	LDIQRKTEIKEQLTEHLCTIIQQNEL	LDIQRKTEIKEQSLNTFVRSYSKMSSERPRSWRS	9.0	7.0	-	-	4326_1:170521235-170521235 C>-_LDIQRKTEIKEQSLNTFVRSYSKMSSERPRSWRS
11:64570555-64570555 C>G	1.0	4326	BREAST	-	-	-	-	MAP4K2	ENST00000435926,p.G23R|ENST00000433890,p.G23R|ENST00000444560,p.G23R|uc001obi.3,p.G23R|uc001obh.3,p.G23R|ENST00000439069,p.G23R|uc010rnp.1,p.G23R|NM_004579,p.G23R|ENST00000294066,p.G23R|ENST00000377350,p.G23R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rnp.1	nonsynonymous SNV	exon1	c.G67C	p.G23R	DPRDRFELLQRVGAGTYGDVYKARD	DPRDRFELLQRVRAGTYGDVYKARD	8.0	9.0	-	-	4326_11:64570555-64570555 C>G_DPRDRFELLQRVRAGTYGDVYKARD
3:113785082-113785082 C>T	1.0	4326	BREAST	-	-	-	-	QTRTD1	uc003eay.4,p.H70Y|ENST00000482307,p.H70Y|NM_001256835,p.H82Y|uc003eaz.4,p.H82Y|ENST00000472599,p.H84Y|ENST00000281273,p.H70Y|NM_024638,p.H70Y|ENST00000485050,p.H82Y	retained_intron, protein_coding, processed_transcript	uc003eaz.4	nonsynonymous SNV	exon3	c.C244T	p.H82Y	AMAQLTLSSLAEHHEVLTEYKEGVG	AMAQLTLSSLAEYHEVLTEYKEGVG	9.0	4.0	-	-	4326_3:113785082-113785082 C>T_AMAQLTLSSLAEYHEVLTEYKEGVG
14:57676447-57676447 ->TT	1.0	4326	BREAST	-	-	-	-	EXOC5	ENST00000413566,p.N592fs|uc010trg.2,p.N537fs|uc001xcs.3,p.N271fs|ENST00000340918,p.N527fs|NM_006544,p.N592fs|uc001xct.3,p.N592fs|uc010trh.2,p.N527fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010trh.2	frameshift insertion	exon16	c.1580_1581insAA	p.N527fs	CAYVRKQVEKIKNSMDGKNVDTVLM	CAYVRKQVEKIKKIPWMGRMWIQF	9.0	7.0	-	-	4326_14:57676447-57676447 ->TT_CAYVRKQVEKIKKIPWMGRMWIQF
20:30897865-30897873 TGGACAAAC>-	1.0	4326	BREAST	-	-	-	-	KIF3B	uc010ztv.2,p.95_98del|uc010ztw.2,p.95_98del|ENST00000375712,p.95_98del|uc002wxq.3,p.95_98del|NM_004798,p.95_98del	protein_coding	uc010ztw.2	nonframeshift deletion	exon1	c.285_293del	p.95_98del	SVLQGFNGTIFAYGQTGTGKTYTMEG	SVLQGFNGTIFAYGTGKTYTMEGIR	7.0	3.0	-	-	4326_20:30897865-30897873 TGGACAAAC>-_SVLQGFNGTIFAYGTGKTYTMEGIR
X:147744018-147744018 C>T	1.0	4326	BREAST	-	-	-	-	AFF2	uc004fcs.3,p.S253F|NM_001169124,p.S257F|ENST00000370460,p.S257F|NM_001169122,p.S253F|ENST00000370458,p.S253F|uc011mxb.2,p.S257F|uc004fcp.3,p.S257F|NM_001169123,p.S253F|NM_002025,p.S257F|ENST00000342251,p.S253F|uc004fco.3,p.S253F|ENST00000370457,p.S253F|uc004fcr.3,p.S253F|NM_001169125,p.S253F|uc004fcq.3,p.S253F	protein_coding	uc011mxb.2	nonsynonymous SNV	exon3	c.C770T	p.S257F	AVQAPGSPLVASSLLAPSSGLSVQN	AVQAPGSPLVASFLLAPSSGLSVQN	6.0	10.0	-	-	4326_X:147744018-147744018 C>T_AVQAPGSPLVASFLLAPSSGLSVQN
7:39990346-39990346 C>G	1.0	4326	BREAST	-	-	-	-	CDK13	uc003thh.4,p.Q36E|ENST00000340829,p.Q36E|NM_003718,p.Q36E|ENST00000181839,p.Q36E|NM_031267,p.Q36E|uc003thi.4,p.Q36E	retained_intron, protein_coding, processed_transcript	uc003thi.4	nonsynonymous SNV	exon1	c.C106G	p.Q36E	ERRKRRRFLSPQQPPLLLPLLQPQL	ERRKRRRFLSPQEPPLLLPLLQPQL	9.0	2.0	-	-	4326_7:39990346-39990346 C>G_ERRKRRRFLSPQEPPLLLPLLQPQL
17:34001228-34001228 G>A	1.0	4326	BREAST	-	-	-	-	AP2B1	uc002hjs.3,p.E667K|uc002hjq.3,p.E738K|ENST00000262325,p.E724K|NM_001030006,p.E738K|ENST00000537622,p.E738K|ENST00000589344,p.E738K|ENST00000592545,p.E700K|ENST00000538556,p.E667K|uc010wci.2,p.E700K|uc002hjr.3,p.E724K|uc002hjt.3,p.E738K|ENST00000312678,p.E738K|uc010ctv.3,p.E738K|uc010wcj.2,p.E475K|NM_001282,p.E724K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wcj.2	nonsynonymous SNV	exon13	c.G1423A	p.E475K	AVWLPAVKAKGLEISGTFTHRQGHI	AVWLPAVKAKGLKISGTFTHRQGHI	9.0	4.0	-	-	4326_17:34001228-34001228 G>A_AVWLPAVKAKGLKISGTFTHRQGHI
1:200633120-200633120 C>T	1.0	4326	BREAST	-	-	-	-	DDX59	ENST00000367348,p.R300H|uc010ppl.1,p.R300H|ENST00000447706,p.R300H|NM_001031725,p.R300H|uc009wzk.3,p.R300H|ENST00000331314,p.R300H	protein_coding	uc010ppl.1	nonsynonymous SNV	exon3	c.G899A	p.R300H	ERQAKELMSGLPRMKTVLLVGGLPL	ERQAKELMSGLPHMKTVLLVGGLPL	7.0	10.0	-	-	4326_1:200633120-200633120 C>T_ERQAKELMSGLPHMKTVLLVGGLPL
11:61571221-61571221 T>C	1.0	4326	BREAST	-	-	-	-	FADS1	uc010rln.1,p.T217A|uc010rlm.2,p.T358A|uc001nsh.3,p.T217A|ENST00000539999,p.T87A|ENST00000542506,p.T217A|ENST00000350997,p.T358A|ENST00000536991,p.T49A|NM_013402,p.T358A|ENST00000433932,p.T217A	protein_coding, processed_transcript, nonsense_mediated_decay	uc010rln.1	nonsynonymous SNV	exon8	c.A649G	p.T217A	QRKKWVDLAWMITFYVRFFLTYVPL	QRKKWVDLAWMIAFYVRFFLTYVPL	8.0	3.0	-	-	4326_11:61571221-61571221 T>C_QRKKWVDLAWMIAFYVRFFLTYVPL
11:61563374-61563379 GACTGC>-	1.0	4326	BREAST	-	-	-	2	FEN1	uc021qkj.1,p.181_182del|uc001nsg.3,p.181_182del|ENST00000305885,p.181_182del|NM_004111,p.181_182del	protein_coding	uc021qkj.1	nonframeshift deletion	exon1	c.541_546del	p.181_182del	AGKVYAAATEDMDCLTFGSPVLMRHL	AGKVYAAATEDMLTFGSPVLMRHLT	8.0	9.0	-	-	4326_11:61563374-61563379 GACTGC>-_AGKVYAAATEDMLTFGSPVLMRHLT
11:111853103-111853103 G>A	1.0	4326	BREAST	-	-	-	-	DIXDC1	uc001pmm.3,p.G59E|uc001pml.3,p.G270E	retained_intron, protein_coding, processed_transcript	uc001pmm.3	nonsynonymous SNV	exon3	c.G176A	p.G59E	GTDSPLSRDWRPGSPGTYLETSWEE	GTDSPLSRDWRPESPGTYLETSWEE	8.0	7.0	-	-	4326_11:111853103-111853103 G>A_GTDSPLSRDWRPESPGTYLETSWEE
9:131019751-131019751 G>C	1.0	4326	BREAST	-	-	-	-	GOLGA2	uc011maw.2,p.N897K|ENST00000421699,p.N897K|NM_004486,p.N897K|uc010mxw.3,p.N220K	retained_intron, protein_coding	uc011maw.2	nonsynonymous SNV	exon25	c.C2691G	p.N897K	LQELVLRLVGDRNEWHGRFLAAAQN	LQELVLRLVGDRKEWHGRFLAAAQN	9.0	5.0	-	-	4326_9:131019751-131019751 G>C_LQELVLRLVGDRKEWHGRFLAAAQN
8:38677960-38677960 C>T	1.0	4326	BREAST	-	-	-	-	TACC1	ENST00000443286,p.H416Y|ENST00000518415,p.H355Y|uc003xmb.4,p.H355Y|uc010lwq.3,p.H205Y|uc010lwp.3,p.H400Y|ENST00000520615,p.H205Y|uc011lcc.2,p.H205Y|ENST00000522904,p.H372Y|ENST00000519416,p.H205Y|NM_006283,p.H400Y|uc011lbz.2,p.H416Y|uc011lcb.2,p.H205Y|uc011lby.1,p.H205Y|uc003xmh.4,p.H205Y|uc003xlz.3,p.H205Y|ENST00000317827,p.H400Y|uc003xmc.4,p.H205Y|NM_001146216,p.H205Y|ENST00000520973,p.H205Y|ENST00000520340,p.H364Y|ENST00000379931,p.H400Y|uc011lca.2,p.H400Y	retained_intron, protein_coding, processed_transcript	uc011lcc.2	nonsynonymous SNV	exon2	c.C613T	p.H205Y	QWESPSFNPFGSHSVLQNSPPLSSE	QWESPSFNPFGSYSVLQNSPPLSSE	9.0	3.0	-	-	4326_8:38677960-38677960 C>T_QWESPSFNPFGSYSVLQNSPPLSSE
3:49059858-49059858 G>A	1.0	4326	BREAST	-	-	-	-	NDUFAF3	uc003cvq.3,p.E53K|NM_199069,p.E53K|ENST00000326925,p.E53K	retained_intron, protein_coding	uc003cvq.3	nonsynonymous SNV	exon2	c.G157A	p.E53K	LYQRTRISLLQREAAQAMYIDSYNS	LYQRTRISLLQRKAAQAMYIDSYNS	10.0	7.0	-	-	4326_3:49059858-49059858 G>A_LYQRTRISLLQRKAAQAMYIDSYNS
1:120612003-120612004 GG>-	1.0	4326	BREAST	-	-	ID=COSM132830;OCCURENCE=2(urinary_tract),1(haematopoietic_and_lymphoid_tissue),2(central_nervous_system)	1	NOTCH2	uc001eil.3,p.P6fs|uc001eik.3,p.P6fs|NM_024408,p.P6fs|NM_001200001,p.P6fs|ENST00000256646,p.P6fs	protein_coding, processed_transcript	uc001eil.3	frameshift deletion	exon1	c.17_18del	p.P6fs	MPALRPALLWALLALWLCC	MPALRRSAVGAAGALAVLRGPRACIAVSRWL	10.0	3.0	-	-	4326_1:120612003-120612004 GG>-_MPALRRSAVGAAGALAVLRGPRACIAVSRWL
11:111853103-111853103 G>A	1.0	4326	BREAST	-	-	-	-	DIXDC1	ENST00000440460,p.G270E|ENST00000315253,p.G59E	retained_intron, protein_coding, processed_transcript	ENST00000440460	nonsynonymous SNV	exon7	c.G809A	p.G270E	GTDSPLSRDWRPGPGTYLETSWEEQ	GTDSPLSRDWRPEPGTYLETSWEEQ	8.0	7.0	-	-	4326_11:111853103-111853103 G>A_GTDSPLSRDWRPEPGTYLETSWEEQ
4:41600937-41600937 G>A	1.0	4326	BREAST	-	-	-	-	LIMCH1	uc003gwe.4,p.D80N|uc003gvv.4,p.D80N|uc003gvu.4,p.D80N|NM_001112717,p.D80N|ENST00000512632,p.D80N|ENST00000512946,p.D80N|NM_001289122,p.D80N|uc003gvx.4,p.D80N|ENST00000313860,p.D80N|ENST00000508501,p.D80N|ENST00000512820,p.D80N|NM_001112718,p.D80N|NM_014988,p.D80N|uc003gvw.4,p.D80N	protein_coding, processed_transcript	uc003gwe.4	nonsynonymous SNV	exon4	c.G238A	p.D80N	KINRLPTPIAGLDNIILFLRGCKEL	KINRLPTPIAGLNNIILFLRGCKEL	9.0	10.0	-	-	4326_4:41600937-41600937 G>A_KINRLPTPIAGLNNIILFLRGCKEL
4:39328219-39328219 G>-	1.0	4326	BREAST	-	-	-	-	RFC1	uc003gtz.2,p.A86fs|ENST00000349703,p.A202fs|uc003gty.2,p.A202fs|uc003gtx.2,p.A202fs|ENST00000381897,p.A202fs|NM_002913,p.A202fs|NM_001204747,p.A202fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gtz.2	frameshift deletion	exon7	c.258delC	p.A86fs	SQNTDESGLNDEAIAKQLQLDEDAEL	SQNTDESGLNDEASPSNYSLMKMRSWRGSCMKMKSLPEH	9.0	2.0	-	-	4326_4:39328219-39328219 G>-_SQNTDESGLNDEASPSNYSLMKMRSWRGSCMKMKSLPEH
11:32450145-32450145 C>T	1.0	4326	BREAST	-	-	-	1	WT1	NM_000378,p.D223N|ENST00000448076,p.D223N|NM_024424,p.D223N|uc001mto.2,p.D223N|uc001mtq.2,p.D223N|NM_024426,p.D223N|ENST00000452863,p.D223N|uc001mtn.2,p.D223N|ENST00000332351,p.D223N|ENST00000379077,p.D223N	protein_coding, nonsense_mediated_decay	uc001mtq.2	nonsynonymous SNV	exon2	c.G667A	p.D223N	AIRNQGYSTVTFDGTPSYGHTPSHH	AIRNQGYSTVTFNGTPSYGHTPSHH	6.0	3.0	-	-	4326_11:32450145-32450145 C>T_AIRNQGYSTVTFNGTPSYGHTPSHH
11:32450145-32450145 C>T	1.0	4326	BREAST	-	-	-	1	WT1	uc001mtm.2,p.D11N|ENST00000379079,p.D11N|NM_001198551,p.D11N|uc001mtl.2,p.D11N|ENST00000530998,p.D11N|NM_001198552,p.D11N	protein_coding, nonsense_mediated_decay	uc001mtm.2	nonsynonymous SNV	exon2	c.G31A	p.D11N	MEKGYSTVTFDGTPSYGHTPSHH	MEKGYSTVTFNGTPSYGHTPSHH	6.0	3.0	-	-	4326_11:32450145-32450145 C>T_MEKGYSTVTFNGTPSYGHTPSHH
1:148346658-148346658 C>A	1.0	4326	BREAST	-	-	-	-	NBPF14,NBPF8,NBPF9	uc001eqf.4,p.Q33H|NM_001037501,p.Q33H	protein_coding	uc001eqf.4	nonsynonymous SNV	exon1	c.G99T	p.Q33H	NEKLRPQLAENKQQFVNLKERCFLT	NEKLRPQLAENKHQFVNLKERCFLT	10.0	7.0	-	-	4326_1:148346658-148346658 C>A_NEKLRPQLAENKHQFVNLKERCFLT
2:209179033-209179033 G>A	1.0	4326	BREAST	-	-	-	-	PIKFYVE	ENST00000452564,p.R515H|uc002vcy.1,p.R515H|uc002vcz.3,p.R571H|ENST00000264380,p.R571H|uc010fun.1,p.R252H|NM_015040,p.R571H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fun.1	nonsynonymous SNV	exon13	c.G755A	p.R252H	ISDAFIKESLFNRRVEEKSKELPFT	ISDAFIKESLFNHRVEEKSKELPFT	8.0	1.0	-	-	4326_2:209179033-209179033 G>A_ISDAFIKESLFNHRVEEKSKELPFT
5:131046328-131046328 G>A	1.0	4326	BREAST	-	-	-	-	FNIP1	uc010jdm.1,p.R172W|ENST00000307954,p.R172W|uc003kvs.1,p.R217W|ENST00000510461,p.R217W|uc003kvu.3,p.R217W|ENST00000511848,p.R217W|NM_133372,p.R217W	protein_coding	uc010jdm.1	nonsynonymous SNV	exon6	c.C514T	p.R172W	GNIGLSQFCSPRRAFSEQGPLRLIR	GNIGLSQFCSPRWAFSEQGPLRLIR	9.0	10.0	-	-	4326_5:131046328-131046328 G>A_GNIGLSQFCSPRWAFSEQGPLRLIR
12:120306959-120306959 C>A	1.0	4326	BREAST	-	-	-	-	CIT	uc001txj.2,p.R48L|uc001txi.2,p.R48L|NM_007174,p.R48L|ENST00000261833,p.R48L|ENST00000392521,p.R48L|NM_001206999,p.R48L	retained_intron, protein_coding, processed_transcript	uc001txj.2	nonsynonymous SNV	exon3	c.G143T	p.R48L	PFMTQQQMSPLSREGILDALFVLFE	PFMTQQQMSPLSLEGILDALFVLFE	8.0	2.0	-	-	4326_12:120306959-120306959 C>A_PFMTQQQMSPLSLEGILDALFVLFE
9:8521438-8521438 A>G	1.0	4326	BREAST	-	-	-	-	PTPRD	NM_130392,p.V267A|ENST00000486161,p.V267A|uc003zkk.3,p.V267A|NM_001040712,p.V264A|ENST00000355233,p.V267A|NM_130391,p.V267A|uc003zks.3,p.V257A|NM_001171025,p.V257A|ENST00000381196,p.V267A|ENST00000537002,p.V264A|uc003zkr.3,p.V261A|uc003zkp.3,p.V267A|NM_130393,p.V261A|ENST00000397611,p.V264A|ENST00000358503,p.V254A|ENST00000356435,p.V267A|uc003zkq.3,p.V267A|NM_002839,p.V267A|ENST00000360074,p.V254A|ENST00000397617,p.V257A|uc022bdj.1,p.V264A|ENST00000397606,p.V257A|ENST00000540109,p.V267A	retained_intron, protein_coding, processed_transcript	uc022bdj.1	nonsynonymous SNV	exon8	c.T791C	p.V264A	ITCVAVGSPMPYVKWMLGAEDLTPE	ITCVAVGSPMPYAKWMLGAEDLTPE	5.0	9.0	-	-	4326_9:8521438-8521438 A>G_ITCVAVGSPMPYAKWMLGAEDLTPE
1:20827673-20827673 T>-	1.0	4326	BREAST	-	-	-	-	MUL1	ENST00000264198,p.K190fs|uc001bdi.4,p.K190fs|NM_024544,p.K190fs	protein_coding	uc001bdi.4	frameshift deletion	exon4	c.569delA	p.K190fs	RPKGIQETEEMLKVGATLTGVGELVL	RPKGIQETEEMLRWGPPSQGLANWSWTTTLSACSRPNKACSTI	6.0	8.0	-	-	4326_1:20827673-20827673 T>-_RPKGIQETEEMLRWGPPSQGLANWSWTTTLSACSRPNKACSTI
19:12986985-12986985 G>T	1.0	4326	BREAST	-	-	-	-	DNASE2	uc010xmr.1,p.S246Y|NM_001375,p.S301Y|ENST00000222219,p.S301Y|ENST00000538460,p.S246Y|uc002mvn.1,p.S301Y	retained_intron, protein_coding	uc010xmr.1	nonsynonymous SNV	exon5	c.C737A	p.S246Y	FNSTEDHSKWCVSPKGPWTCVGDMN	FNSTEDHSKWCVYPKGPWTCVGDMN	9.0	7.0	-	-	4326_19:12986985-12986985 G>T_FNSTEDHSKWCVYPKGPWTCVGDMN
6:24781715-24781715 G>T	1.0	4326	BREAST	-	-	-	-	GMNN	ENST00000378054,p.G47V|ENST00000476555,p.G47V|ENST00000230056,p.G47V|uc021ymo.1,p.G47V|NM_001251989,p.G47V|NM_001251991,p.G47V|NM_015895,p.G47V|ENST00000356509,p.G47V|NM_001251990,p.G47V|uc021ymn.1,p.G47V|uc003nem.3,p.G47V|uc003nen.3,p.G47V|ENST00000378059,p.G47V	retained_intron, protein_coding	uc021ymo.1	nonsynonymous SNV	exon4	c.G140T	p.G47V	GSLVGRENELSAGLSKRKHRNDHLT	GSLVGRENELSAVLSKRKHRNDHLT	9.0	7.0	-	-	4326_6:24781715-24781715 G>T_GSLVGRENELSAVLSKRKHRNDHLT
14:64891536-64891536 A>C	1.0	4326	BREAST	-	-	-	-	MTHFD1	ENST00000555252,p.N228H|uc010aqe.2,p.N284H|ENST00000555709,p.N248H|uc010aqf.3,p.N304H|NM_005956,p.N248H|ENST00000545908,p.N304H|uc001xhb.3,p.N248H|ENST00000216605,p.N304H	retained_intron, protein_coding, processed_transcript	uc010aqf.3	nonsynonymous SNV	exon9	c.A910C	p.N304H	CGINYVPDDKKPNGRKVVGDVAYDE	CGINYVPDDKKPHGRKVVGDVAYDE	10.0	9.0	-	-	4326_14:64891536-64891536 A>C_CGINYVPDDKKPHGRKVVGDVAYDE
16:68042-68042 C>T	1.0	4326	BREAST	-	rs76638931	-	-	MIR6859-1,MIR6859-2	ENST00000538848,p.G86R	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000538848	nonsynonymous SNV	exon3	c.G256A	p.G86R	GTKIGPGKQSRAGARCRPLERRSPW	GTKIGPGKQSRARARCRPLERRSPW	10.0	2.0	unscreened	-	4326_16:68042-68042 C>T_GTKIGPGKQSRARARCRPLERRSPW
11:66639309-66639309 G>A	1.0	4326	BREAST	-	-	-	-	PC	NM_001040716,p.T57M|NM_022172,p.T57M|uc001ojn.1,p.T57M|NM_000920,p.T57M|ENST00000393958,p.T57M|ENST00000524491,p.T17M|ENST00000393955,p.T57M|ENST00000355677,p.T57M|uc001ojo.1,p.T57M|ENST00000393960,p.T57M|uc001ojp.1,p.T57M	protein_coding, processed_transcript	uc001ojp.1	nonsynonymous SNV	exon4	c.C170T	p.T57M	RGEIAIRVFRACTELGIRTVAIYSE	RGEIAIRVFRACMELGIRTVAIYSE	6.0	4.0	-	-	4326_11:66639309-66639309 G>A_RGEIAIRVFRACMELGIRTVAIYSE
4:47578895-47578895 G>T	1.0	4326	BREAST	-	-	-	-	ATP10D	NM_020453,p.A1158S|uc003gxk.1,p.A1158S|uc003gxl.1,p.A406S|ENST00000273859,p.A1158S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003gxl.1	nonsynonymous SNV	exon12	c.G1216T	p.A406S	WVLIFFNLLFTSAPPVIYGVLEKDV	WVLIFFNLLFTSSPPVIYGVLEKDV	9.0	2.0	-	-	4326_4:47578895-47578895 G>T_WVLIFFNLLFTSSPPVIYGVLEKDV
13:23942573-23942573 T>C	1.0	4326	BREAST	-	-	-	-	SACS	ENST00000382298,p.R105G|uc001uon.3,p.R105G|ENST00000382292,p.R105G|NM_014363,p.R105G	protein_coding, processed_transcript	uc001uon.3	nonsynonymous SNV	exon5	c.A313G	p.R105G	TPPLVDFLKDILRRYPEGGQILKEL	TPPLVDFLKDILGRYPEGGQILKEL	7.0	1.0	-	-	4326_13:23942573-23942573 T>C_TPPLVDFLKDILGRYPEGGQILKEL
6:152651729-152651729 C>T	1.0	4326	BREAST	-	-	ID=COSM1672895,COSM1672893,COSM1672894;OCCURENCE=1(large_intestine)	-	SYNE1	uc003qou.4,p.M4697I|NM_033071,p.M4626I|ENST00000265368,p.M4697I|ENST00000448038,p.M4626I|ENST00000341594,p.M4444I|uc003qot.4,p.M4626I|ENST00000423061,p.M4626I|NM_182961,p.M4697I|uc010kiz.4,p.M452I|ENST00000367255,p.M4697I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kiz.4	nonsynonymous SNV	exon2	c.G1356A	p.M452I	QSLSELEAQFLRMSKVPTDLAVEEA	QSLSELEAQFLRISKVPTDLAVEEA	8.0	9.0	-	-	4326_6:152651729-152651729 C>T_QSLSELEAQFLRISKVPTDLAVEEA
16:90099252-90099252 C>G	1.0	4326	BREAST	-	-	-	-	GAS8	ENST00000536122,p.R114G|uc010vpu.1,p.R56G|NM_001481,p.R139G|uc002fqi.1,p.R139G|uc010vpv.1,p.R110G|uc010vpw.1,p.R56G|NM_001286209,p.R114G|ENST00000268699,p.R139G|uc010vpt.1,p.R139G|uc010cjc.1,p.R56G|uc010vps.1,p.R114G|uc002fqh.2,p.R56G|NM_001286205,p.R56G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vpw.1	nonsynonymous SNV	exon4	c.C166G	p.R56G	AQKEHRIQESVLRKDMRALKVELKE	AQKEHRIQESVLGKDMRALKVELKE	7.0	9.0	-	-	4326_16:90099252-90099252 C>G_AQKEHRIQESVLGKDMRALKVELKE
12:11243947-11243947 A>C	1.0	4326	BREAST	-	-	-	-	TAS2R43	uc001qzq.1,p.F294L|ENST00000531678,p.F294L|NM_176884,p.F294L	protein_coding	uc001qzq.1	nonsynonymous SNV	exon1	c.T882G	p.F294L	GNKKLKQTFLSVFWQMRYWVKGEKT	GNKKLKQTFLSVLWQMRYWVKGEKT	5.0	3.0	-	-	4326_12:11243947-11243947 A>C_GNKKLKQTFLSVLWQMRYWVKGEKT
15:28566562-28566562 G>C	1.0	4326	BREAST	-	rs2525965	-	-	HERC2	uc001zbj.4,p.F6L|NM_004667,p.F6L|ENST00000261609,p.F6L|ENST00000564734,p.F6L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zbj.4	nonsynonymous SNV	exon2	c.C18G	p.F6L	MPSESFCLAAQARLDSKW	MPSESLCLAAQARLDSKW	8.0	6.0	-	-	4326_15:28566562-28566562 G>C_MPSESLCLAAQARLDSKW
22:26879947-26879967 GAGGCGGCGCCCCGGGGGAGA>-	1.0	4326	BREAST	-	-	-	-	SRRD	uc003acp.4,p.31_31del	retained_intron, protein_coding	uc003acp.4	nonframeshift deletion	exon1	c.91_93del	p.31_31del	KRRSAARRPRRREAAPRGREAAPRGP	KRRSAARRPRRRAAPRGREAAPRGP	7.0	7.0	-	-	4326_22:26879947-26879967 GAGGCGGCGCCCCGGGGGAGA>-_KRRSAARRPRRRAAPRGREAAPRGP
15:28566548-28566548 T>C	1.0	4326	BREAST	-	rs2920545	-	-	HERC2	ENST00000564734,p.Q11R|uc001zbj.4,p.Q11R|NM_004667,p.Q11R|ENST00000261609,p.Q11R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001zbj.4	nonsynonymous SNV	exon2	c.A32G	p.Q11R	MPSESFCLAAQARLDSKWLKTDI	MPSESFCLAARARLDSKWLKTDI	8.0	5.0	-	-	4326_15:28566548-28566548 T>C_MPSESFCLAARARLDSKWLKTDI
1:22965350-22965350 T>G	0.0	4326	BREAST	-	-	-	-	C1QA	ENST00000438241,p.I63S|ENST00000402322,p.I63S|ENST00000374642,p.I63S|uc001bfy.3,p.I63S|NM_015991,p.I63S	protein_coding	uc001bfy.3	nonsynonymous SNV	exon3	c.T188G	p.I63S	QGEPGAPGIRTGIQGLKGDQGEPGP	QGEPGAPGIRTGSQGLKGDQGEPGP	10.0	9.0	-	-	4326_1:22965350-22965350 T>G_QGEPGAPGIRTGSQGLKGDQGEPGP
1:220236197-220236197 T>A	1.0	4326	BREAST	-	-	-	-	BPNT1	uc010pug.2,p.I137F|ENST00000354807,p.I207F|NM_001286151,p.I137F|NM_001286150,p.I156F|ENST00000469520,p.I192F|uc010puh.2,p.I156F|NM_001286149,p.I137F|ENST00000463953,p.I156F|ENST00000414869,p.I156F|ENST00000544404,p.I137F|ENST00000322067,p.I192F|uc001hma.3,p.I192F|NM_006085,p.I192F	retained_intron, protein_coding, processed_transcript	uc010puh.2	nonsynonymous SNV	exon6	c.A466T	p.I156F	FQLKEVPAGKHIITTTRSHSNKLVT	FQLKEVPAGKHIFTTTRSHSNKLVT	10.0	1.0	-	-	4326_1:220236197-220236197 T>A_FQLKEVPAGKHIFTTTRSHSNKLVT
16:71113803-71113803 C>G	1.0	4326	BREAST	-	-	-	-	HYDIN	ENST00000448691,p.G575R|NM_017558,p.G575R|uc010vmd.2,p.G602R|NM_001270974,p.G575R|ENST00000448089,p.G575R|uc002ezw.4,p.G592R|NM_001198543,p.G592R|ENST00000538248,p.G602R|uc021tkq.2,p.G575R|ENST00000393567,p.G575R|uc010cfz.2,p.G320R|uc031qwy.1,p.G575R|uc010vmc.2,p.G592R|ENST00000393552,p.G193R|ENST00000288168,p.G592R|ENST00000541601,p.G592R|NM_001198542,p.G602R|ENST00000321489,p.G575R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon13	c.G1723C	p.G575R	PTFHFNVPALHFGDVSFGFPHTLIC	PTFHFNVPALHFRDVSFGFPHTLIC	5.0	7.0	-	-	4326_16:71113803-71113803 C>G_PTFHFNVPALHFRDVSFGFPHTLIC
12:132497623-132497623 G>A	1.0	4326	BREAST	-	-	-	-	EP400	ENST00000389562,p.A1170T|ENST00000389561,p.A1171T|ENST00000332482,p.A1134T|uc001ujm.3,p.A1171T|ENST00000333577,p.A1207T|uc001ujn.3,p.A1171T|NM_015409,p.A1171T|ENST00000330386,p.A1171T	protein_coding, processed_transcript	uc001ujn.3	nonsynonymous SNV	exon17	c.G3511A	p.A1171T	ITSYTQFFRGLTAFTRVRWKCLVID	ITSYTQFFRGLTTFTRVRWKCLVID	8.0	4.0	-	-	4326_12:132497623-132497623 G>A_ITSYTQFFRGLTTFTRVRWKCLVID
2:1639288-1639288 C>-	0.0	4326	BREAST	-	-	-	-	PXDN	ENST00000252804,p.K1404fs|uc002qxa.3,p.K1404fs|NM_012293,p.K1404fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002qxa.3	frameshift deletion	exon22	c.4212delG	p.K1404fs	MQKTITDLRTQIKKLESRLSTTECVD	MQKTITDLRTQIKNLNHGSVPQSAWMPGANLTPTTPSGKKMHAPFVNAKTGRSPASWKLAPLPPVLSP	9.0	1.0	-	-	4326_2:1639288-1639288 C>-_MQKTITDLRTQIKNLNHGSVPQSAWMPGANLTPTTPSGKKMHAPFVNAKTGRSPASWKLAPLPPVLSP
1:162722975-162722975 C>T	1.0	4326	BREAST	-	-	-	1	DDR2	ENST00000367921,p.A58V|NM_001014796,p.A58V|NM_006182,p.A58V|uc001gcg.3,p.A58V|uc001gcf.3,p.A58V|ENST00000415555,p.A58V|ENST00000367922,p.A58V|ENST00000446985,p.A58V	protein_coding	uc001gcg.3	nonsynonymous SNV	exon4	c.C173T	p.A58V	ITASSQWSESTAAKYGRLDSEEGDG	ITASSQWSESTAVKYGRLDSEEGDG	9.0	1.0	-	-	4326_1:162722975-162722975 C>T_ITASSQWSESTAVKYGRLDSEEGDG
1:6556602-6556602 C>T	1.0	4326	BREAST	-	-	-	-	PLEKHG5	NM_001042663,p.G11E|uc001ano.1,p.G11E|ENST00000400915,p.G11E	retained_intron, protein_coding	uc001ano.1	nonsynonymous SNV	exon2	c.G32A	p.G11E	MDDQSPAEKKGLRCQNPACMDKG	MDDQSPAEKKELRCQNPACMDKG	6.0	8.0	-	-	4326_1:6556602-6556602 C>T_MDDQSPAEKKELRCQNPACMDKG
1:6556602-6556602 C>T	1.0	4326	BREAST	-	-	-	-	PLEKHG5	ENST00000377740,p.G32E|NM_198681,p.G32E|ENST00000377748,p.G32E|uc001anq.2,p.G32E|uc001anp.2,p.G32E	retained_intron, protein_coding	uc001anq.2	nonsynonymous SNV	exon2	c.G95A	p.G32E	SGTDDQSPAEKKGLRCQNPACMDKG	SGTDDQSPAEKKELRCQNPACMDKG	6.0	8.0	-	-	4326_1:6556602-6556602 C>T_SGTDDQSPAEKKELRCQNPACMDKG
1:6556602-6556602 C>T	1.0	4326	BREAST	-	-	-	-	PLEKHG5	ENST00000537245,p.G34E|NM_001265592,p.G34E|uc031plb.1,p.G34E	retained_intron, protein_coding	uc031plb.1	nonsynonymous SNV	exon2	c.G101A	p.G34E	DAGHDQSPAEKKGLRCQNPACMDKG	DAGHDQSPAEKKELRCQNPACMDKG	6.0	8.0	-	-	4326_1:6556602-6556602 C>T_DAGHDQSPAEKKELRCQNPACMDKG
19:21300382-21300382 A>G	1.0	4326	BREAST	-	-	-	-	ZNF714	ENST00000596143,p.I304M|uc002npl.3,p.I150M|ENST00000600435,p.I304M	protein_coding, processed_transcript, nonsense_mediated_decay	uc002npl.3	nonsynonymous SNV	exon5	c.A450G	p.I150M	AFNRFSYLTKHKIIHSGEKSYKCEQ	AFNRFSYLTKHKMIHSGEKSYKCEQ	10.0	9.0	-	-	4326_19:21300382-21300382 A>G_AFNRFSYLTKHKMIHSGEKSYKCEQ
2:37454997-37454997 G>C	1.0	4326	BREAST	-	-	-	-	CEBPZ	ENST00000234170,p.Q447E|NM_005760,p.Q447E|uc002rpz.3,p.Q447E	retained_intron, protein_coding	uc002rpz.3	nonsynonymous SNV	exon2	c.C1339G	p.Q447E	SKAQYYAICFLNQMALSHEESELAN	SKAQYYAICFLNEMALSHEESELAN	8.0	3.0	-	-	4326_2:37454997-37454997 G>C_SKAQYYAICFLNEMALSHEESELAN
1:148346658-148346658 C>A	1.0	4326	BREAST	-	-	-	-	NBPF14,NBPF8,NBPF9	uc001erd.5,p.Q33H|ENST00000369202,p.Q33H|uc010pav.3,p.Q33H|ENST00000414710,p.Q33H|ENST00000369188,p.Q33H	protein_coding	uc010pav.3	nonsynonymous SNV	exon2	c.G99T	p.Q33H	NEKLRPQLAENKQQFGNLKERCFVT	NEKLRPQLAENKHQFGNLKERCFVT	10.0	7.0	-	-	4326_1:148346658-148346658 C>A_NEKLRPQLAENKHQFGNLKERCFVT
1:148346658-148346658 C>A	1.0	4326	BREAST	-	-	-	-	NBPF14,NBPF8,NBPF9	uc031pon.1,p.Q33H|NM_001277444,p.Q33H	protein_coding	uc031pon.1	nonsynonymous SNV	exon2	c.G99T	p.Q33H	NEKLRPQLAENKQQFGNLKERCFLT	NEKLRPQLAENKHQFGNLKERCFLT	10.0	7.0	-	-	4326_1:148346658-148346658 C>A_NEKLRPQLAENKHQFGNLKERCFLT
1:24175329-24175329 C>T	1.0	4326	BREAST	-	-	-	-	FUCA1	ENST00000374479,p.E324K|uc001bie.3,p.E324K|NM_000147,p.E324K	protein_coding	uc001bie.3	nonsynonymous SNV	exon6	c.G970A	p.E324K	LSDVTEESEIISELVQTVSLGGNYL	LSDVTEESEIISKLVQTVSLGGNYL	9.0	9.0	-	-	4326_1:24175329-24175329 C>T_LSDVTEESEIISKLVQTVSLGGNYL
14:61518578-61518580 TAG>-	1.0	4326	BREAST	-	-	-	-	SLC38A6	ENST00000529212,p.148_149del|uc010trz.2,p.352_353del|NM_153811,p.375_376del|NM_001172702,p.375_376del|ENST00000267488,p.375_376del|uc001xfg.2,p.375_376del|ENST00000354886,p.375_376del|uc001xfh.2,p.375_376del|ENST00000451406,p.370_371del|ENST00000456840,p.352_353del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010trz.2	nonframeshift deletion	exon14	c.1055_1057del	p.352_353del	FPFSWIRHFLITLALNIIIVLLAIYV	FPFSWIRHFLITPLNIIIVLLAIYV	7.0	5.0	-	-	4326_14:61518578-61518580 TAG>-_FPFSWIRHFLITPLNIIIVLLAIYV
2:219269106-219269106 C>G	1.0	4326	BREAST	-	-	-	-	CTDSP1	uc002vhz.3,p.D107E|NM_001206878,p.D247E|ENST00000273062,p.D248E|NM_182642,p.D247E|ENST00000443891,p.D247E|uc002vhx.3,p.D247E|uc002vhy.3,p.D248E|uc021vwv.1,p.D247E|NM_021198,p.D248E	retained_intron, protein_coding, processed_transcript	uc021vwv.1	nonsynonymous SNV	exon7	c.C741G	p.D247E	DLLPFFEQLSRVDDVYSVLRQPRPG	DLLPFFEQLSRVEDVYSVLRQPRPG	8.0	8.0	-	-	4326_2:219269106-219269106 C>G_DLLPFFEQLSRVEDVYSVLRQPRPG
19:37440656-37440656 G>C	1.0	4326	BREAST	0.0005	-	-	-	ZNF568	uc002ofd.3,p.E137Q|NM_198539,p.E201Q|uc002ofc.3,p.E201Q|uc010efe.3,p.E137Q|ENST00000587857,p.E137Q|ENST00000415168,p.E137Q|NM_001204835,p.E200Q|NM_001204836,p.E137Q|ENST00000333987,p.E201Q|NM_001204837,p.E137Q|uc021uts.1,p.E200Q	retained_intron, protein_coding	uc021uts.1	nonsynonymous SNV	exon7	c.G598C	p.E200Q	LDLLRYEKGCVREKQSNEFGKPFYH	LDLLRYEKGCVRQKQSNEFGKPFYH	7.0	6.0	-	-	4326_19:37440656-37440656 G>C_LDLLRYEKGCVRQKQSNEFGKPFYH
1:8424129-8424129 ->G	1.0	4326	BREAST	-	-	-	-	RERE	ENST00000377464,p.R308fs|NM_012102,p.R576fs|NM_001042682,p.R22fs|uc001apd.3,p.R22fs|NM_001042681,p.R576fs|uc001apf.3,p.R576fs|ENST00000476556,p.R22fs|uc001ape.3,p.R576fs|ENST00000337907,p.R576fs|ENST00000400908,p.R576fs|uc010nzx.1,p.R308fs	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc010nzx.1	frameshift insertion	exon9	c.922dupC	p.R308fs	DGLSGKHSMRTRRSRGSMSTLRSGR	DGLSGKHSMRTRPESGLDVDTTQWSEEAASQP	10.0	5.0	-	-	4326_1:8424129-8424129 ->G_DGLSGKHSMRTRPESGLDVDTTQWSEEAASQP
2:181846933-181846933 C>T	1.0	4326	BREAST	-	-	-	-	UBE2E3	ENST00000602499,p.T55I|uc002unq.1,p.T55I|NM_001278555,p.T55I|ENST00000392415,p.T55I|uc010fri.1,p.T55I|ENST00000602632,p.T55I|ENST00000602710,p.T55I|ENST00000602291,p.T55I|ENST00000410062,p.T55I|ENST00000602475,p.T55I|NM_001278554,p.T55I|NM_006357,p.T55I|ENST00000602959,p.T55I|ENST00000602303,p.T55I|ENST00000602479,p.T55I|NM_182678,p.T55I|uc002unr.1,p.T55I	protein_coding	uc010fri.1	nonsynonymous SNV	exon2	c.C164T	p.T55I	TQQKKNTKLSSKTTAKLSTSAKRIQ	TQQKKNTKLSSKITAKLSTSAKRIQ	9.0	1.0	-	-	4326_2:181846933-181846933 C>T_TQQKKNTKLSSKITAKLSTSAKRIQ
19:12951264-12951264 C>G	1.0	4326	BREAST	-	-	-	-	MAST1	ENST00000251472,p.R30G|uc002mvm.3,p.R30G|NM_014975,p.R30G	retained_intron, protein_coding	uc002mvm.3	nonsynonymous SNV	exon2	c.C88G	p.R30G	PGGSMFRRTKSCRTSNRKSLILTST	PGGSMFRRTKSCGTSNRKSLILTST	6.0	8.0	-	-	4326_19:12951264-12951264 C>G_PGGSMFRRTKSCGTSNRKSLILTST
7:1478542-1478542 C>G	1.0	4326	BREAST	-	-	-	-	MICALL2	uc003skj.4,p.G686R|ENST00000405088,p.G474R|ENST00000297508,p.G686R|uc003ski.4,p.G173R|NM_182924,p.G686R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003skj.4	nonsynonymous SNV	exon10	c.G2056C	p.G686R	DVCDNWLRPEPPGQEARVQSWKEEE	DVCDNWLRPEPPRQEARVQSWKEEE	7.0	8.0	-	-	4326_7:1478542-1478542 C>G_DVCDNWLRPEPPRQEARVQSWKEEE
5:32087815-32087815 G>A	1.0	4326	BREAST	-	-	-	-	PDZD2	NM_178140,p.E1421K|ENST00000438447,p.E1421K|uc003jhm.3,p.E1421K|uc003jhl.3,p.E1421K|ENST00000282493,p.E1421K	retained_intron, protein_coding, processed_transcript	uc003jhm.3	nonsynonymous SNV	exon19	c.G4261A	p.E1421K	HVSGHCCPGGSRESPVTDIDSFIKE	HVSGHCCPGGSRKSPVTDIDSFIKE	9.0	6.0	-	-	4326_5:32087815-32087815 G>A_HVSGHCCPGGSRKSPVTDIDSFIKE
1:170511646-170511646 G>A	1.0	4326	BREAST	-	-	-	-	GORAB	NM_152281,p.R170H|ENST00000367763,p.R170H|uc001gha.2,p.R170H|uc001ggz.4,p.R170H|ENST00000367762,p.R170H|NM_001146039,p.R170H	protein_coding, processed_transcript	uc001gha.2	nonsynonymous SNV	exon3	c.G509A	p.R170H	LEKKKVELQEKSRWEVLQQEQRLME	LEKKKVELQEKSHWEVLQQEQRLME	9.0	8.0	-	-	4326_1:170511646-170511646 G>A_LEKKKVELQEKSHWEVLQQEQRLME
2:85769048-85769048 C>G	1.0	4326	BREAST	-	-	-	-	MAT2A	uc002spr.3,p.R168G|ENST00000409017,p.R105G|NM_005911,p.R168G|uc010ysr.2,p.R168G|ENST00000306434,p.R168G|uc010fgl.2,p.R105G	retained_intron, protein_coding, processed_transcript	uc010ysr.2	nonsynonymous SNV	exon5	c.C502G	p.R168G	LAHKLNAKLAELRRNGTLPWLRPDS	LAHKLNAKLAELGRNGTLPWLRPDS	10.0	5.0	-	-	4326_2:85769048-85769048 C>G_LAHKLNAKLAELGRNGTLPWLRPDS
19:45575066-45575084 TGAGCGCCGGTGCACCGTC>-	1.0	4326	BREAST	-	-	-	-	ZNF296	uc002pao.3,p.L401fs|NM_145288,p.L401fs|ENST00000303809,p.L401fs	protein_coding	uc002pao.3	frameshift deletion	exon3	c.1203_1221del	p.L401fs	EFCGKHFTNSSNLTVHRRSHTGERPY	EFCGKHFTNSSNLTPGSAPTPVSSATTPAPRAVSSTATAACTA	5.0	6.0	-	-	4326_19:45575066-45575084 TGAGCGCCGGTGCACCGTC>-_EFCGKHFTNSSNLTPGSAPTPVSSATTPAPRAVSSTATAACTA
8:68140266-68140266 A>G	1.0	4326	BREAST	-	-	-	-	ARFGEF1	uc003xxn.2,p.Y158H|ENST00000262215,p.Y1175H|ENST00000518230,p.Y13H|uc003xxo.2,p.Y1175H|NM_006421,p.Y1175H|ENST00000517631,p.Y24H|ENST00000520381,p.Y629H|uc003xxl.1,p.Y629H	retained_intron, protein_coding, processed_transcript	uc003xxo.2	nonsynonymous SNV	exon25	c.T3523C	p.Y1175H	MFSLQKIVEISYYNMGRIRLQWSRI	MFSLQKIVEISYHNMGRIRLQWSRI	9.0	2.0	-	-	4326_8:68140266-68140266 A>G_MFSLQKIVEISYHNMGRIRLQWSRI
5:111506664-111506664 C>T	1.0	4326	BREAST	-	-	-	-	EPB41L4A	uc003kpv.1,p.E550K|NM_022140,p.E550K|uc003kpp.1,p.E177K|ENST00000261486,p.E550K	retained_intron, protein_coding, processed_transcript	uc003kpv.1	nonsynonymous SNV	exon19	c.G1648A	p.E550K	RSRSRSPDIQAKEELWKHIQKELVD	RSRSRSPDIQAKKELWKHIQKELVD	6.0	1.0	-	-	4326_5:111506664-111506664 C>T_RSRSRSPDIQAKKELWKHIQKELVD
5:64483845-64483845 C>T	1.0	4326	BREAST	-	-	-	-	ADAMTS6	ENST00000381055,p.E970K|NM_197941,p.E970K|uc003jtp.3,p.E970K|uc003jto.4,p.E526K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jtp.3	nonsynonymous SNV	exon22	c.G2908A	p.E970K	SCPPQWVALDWSECTPKCGPGFKHR	SCPPQWVALDWSKCTPKCGPGFKHR	6.0	10.0	-	-	4326_5:64483845-64483845 C>T_SCPPQWVALDWSKCTPKCGPGFKHR
19:10469943-10469943 G>T	1.0	4326	BREAST	-	-	-	-	TYK2	uc002mod.2,p.L695M|ENST00000529370,p.L695M|uc002moc.4,p.L695M|NM_003331,p.L695M|ENST00000264818,p.L695M|uc010dxe.3,p.L510M|ENST00000524462,p.L510M|ENST00000525621,p.L695M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dxe.3	nonsynonymous SNV	exon11	c.C1528A	p.L510M	NIMVTEYVEHGPLDVWLRRERGHVP	NIMVTEYVEHGPMDVWLRRERGHVP	9.0	8.0	-	-	4326_19:10469943-10469943 G>T_NIMVTEYVEHGPMDVWLRRERGHVP
5:66055568-66055568 C>T	0.0	4326	BREAST	-	-	-	-	MAST4	ENST00000406374,p.P132L|uc021xzk.1,p.P132L|NM_001164664,p.P132L|ENST00000406039,p.P132L|NM_001290228,p.P132L|ENST00000403625,p.P132L|ENST00000404260,p.P132L|uc003jur.4,p.P132L|uc010iwz.3,p.P132L|NM_198828,p.P132L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xzk.1	nonsynonymous SNV	exon2	c.C395T	p.P132L	EELDHILSPPPMPFRKCSNPDVASG	EELDHILSPPPMLFRKCSNPDVASG	7.0	2.0	-	-	4326_5:66055568-66055568 C>T_EELDHILSPPPMLFRKCSNPDVASG
6:56337020-56337020 C>T	1.0	4326	BREAST	-	-	-	-	DST	NM_001144770,p.R5075K|ENST00000244364,p.R4709K|ENST00000361203,p.R7012K|NM_015548,p.R4709K|uc021zaz.2,p.R5035K|ENST00000523943,p.R40K|uc003pcy.4,p.R4709K|ENST00000446842,p.R6797K|ENST00000421834,p.R5035K|NM_183380,p.R5035K|uc021zay.2,p.R5075K|ENST00000370788,p.R4926K|uc021zba.2,p.R5213K|ENST00000370769,p.R7123K|NM_001144769,p.R5213K|ENST00000370754,p.R7301K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021zba.2	nonsynonymous SNV	exon88	c.G15638A	p.R5213K	SHIPVLDKGRAGRKRFPASSLYPSG	SHIPVLDKGRAGKKRFPASSLYPSG	8.0	1.0	-	-	4326_6:56337020-56337020 C>T_SHIPVLDKGRAGKKRFPASSLYPSG
19:44130099-44130099 G>A	1.0	4326	BREAST	-	-	-	-	CADM4	uc002oxc.1,p.T240M|NM_145296,p.T240M|ENST00000222374,p.T240M	protein_coding, processed_transcript	uc002oxc.1	nonsynonymous SNV	exon6	c.C719T	p.T240M	IHASQAVVREGDTLVLTCAVTGNPR	IHASQAVVREGDMLVLTCAVTGNPR	6.0	10.0	-	-	4326_19:44130099-44130099 G>A_IHASQAVVREGDMLVLTCAVTGNPR
12:124497409-124497409 A>T	1.0	4326	BREAST	-	-	-	-	ZNF664	uc021rfz.1,p.T240S|uc001uga.3,p.T240S|NM_152437,p.T240S|ENST00000538932,p.T240S|ENST00000539644,p.T240S|uc001ugb.3,p.T240S|ENST00000392404,p.T240S|NM_001204298,p.T240S|ENST00000337815,p.T240S	retained_intron, protein_coding, processed_transcript	uc021rfz.1	nonsynonymous SNV	exon1	c.A718T	p.T240S	KCDECGKAFSQSTSLCIHQRVHTKE	KCDECGKAFSQSSSLCIHQRVHTKE	8.0	1.0	-	-	4326_12:124497409-124497409 A>T_KCDECGKAFSQSSSLCIHQRVHTKE
8:144649541-144649541 ->C	0.0	4326	BREAST	-	-	-	-	MROH6	ENST00000398882,p.G676fs|NM_001100878,p.G676fs|uc010mff.3,p.G676fs	retained_intron, protein_coding, processed_transcript	uc010mff.3	frameshift insertion	exon14	c.2027dupG	p.G676fs	SAQQVAMLARARGCPRGPRLLRIAP	SAQQVAMLARARGLPPRAPPSPHRPAPRPAPTSLRRQPLPAPERRGPLGLLRTPPSL	5.0	10.0	-	 translated beyond stop codon reached end of cDNA PR	4326_8:144649541-144649541 ->C_SAQQVAMLARARGLPPRAPPSPHRPAPRPAPTSLRRQPLPAPERRGPLGLLRTPPSL
19:12951264-12951264 C>G	1.0	4326	BREAST	-	-	-	-	MAST1	ENST00000591495,p.R26G	retained_intron, protein_coding	ENST00000591495	nonsynonymous SNV	exon3	c.C76G	p.R26G	KDLPLPRKSSSCRTSNRKSLILTST	KDLPLPRKSSSCGTSNRKSLILTST	6.0	8.0	unscreened	-	4326_19:12951264-12951264 C>G_KDLPLPRKSSSCGTSNRKSLILTST
17:7577594-7577595 AC>-	1.0	4326	BREAST	-	-	ID=COSM44360,COSM111636,COSM111635,COSM111637;OCCURENCE=3(large_intestine),2(breast),1(oesophagus),3(ovary)	1	TP53	NM_001126117,p.C97fs|uc002gii.2,p.C70fs|NM_001126115,p.C97fs|uc010cng.2,p.C70fs|NM_001126112,p.C229fs|uc002gim.3,p.C229fs|NM_001126116,p.C97fs|ENST00000420246,p.C229fs|NM_001276697,p.C70fs|uc002gij.3,p.C190fs|NM_001126113,p.C229fs|uc002gio.3,p.C97fs|NM_001276761,p.C190fs|NM_001276696,p.C190fs|NM_001126118,p.C190fs|ENST00000514944,p.C136fs|uc002gin.3,p.C136fs|ENST00000445888,p.C229fs|uc031qyq.1,p.C190fs|uc010cni.2,p.C229fs|ENST00000359597,p.C229fs|uc002gih.3,p.C229fs|NM_001126114,p.C229fs|ENST00000509690,p.C97fs|ENST00000269305,p.C229fs|NM_001276760,p.C190fs|NM_000546,p.C229fs|ENST00000455263,p.C229fs|ENST00000413465,p.C229fs|NM_001276699,p.C70fs|uc010cnf.2,p.C70fs|uc010cnh.2,p.C229fs|NM_001276698,p.C70fs|uc002gig.1,p.C229fs|NM_001276695,p.C190fs	retained_intron, protein_coding, processed_transcript	uc031qyq.1	frameshift deletion	exon6	c.569_570del	p.C190fs	VVPYEPPEVGSDCTTIHYNYMCNSSC	VVPYEPPEVGSDYHHPLQLHV	8.0	10.0	-	-	4326_17:7577594-7577595 AC>-_VVPYEPPEVGSDYHHPLQLHV
1:148346658-148346658 C>A	1.0	4326	BREAST	-	-	-	-	NBPF14,NBPF8,NBPF9	uc021owp.2,p.Q33H|NM_015383,p.Q33H	protein_coding	uc021owp.2	nonsynonymous SNV	exon1	c.G99T	p.Q33H	NETLRPQLAEKKQQFRNLKEKCFLT	NETLRPQLAEKKHQFRNLKEKCFLT	10.0	7.0	-	-	4326_1:148346658-148346658 C>A_NETLRPQLAEKKHQFRNLKEKCFLT
6:24302242-24302242 C>G	1.0	4326	BREAST	-	-	-	-	DCDC2	ENST00000378454,p.V127L|NM_016356,p.V127L|NM_001195610,p.V127L|uc003ndy.3,p.V127L|uc003ndx.3,p.V127L	protein_coding	uc003ndy.3	nonsynonymous SNV	exon4	c.G379C	p.V127L	TEVKPVIHSRINVSARFRKPLQEPC	TEVKPVIHSRINLSARFRKPLQEPC	4.0	6.0	-	-	4326_6:24302242-24302242 C>G_TEVKPVIHSRINLSARFRKPLQEPC
12:56493974-56493974 G>A	1.0	4326	BREAST	-	-	-	1	ERBB3	ENST00000550070,p.S356N|ENST00000450146,p.S406N|uc001sjk.3,p.S290N|ENST00000549832,p.S169N|ENST00000267101,p.S1049N|uc001sjh.3,p.S1049N|uc010sqb.2,p.S406N|ENST00000415288,p.S990N|NM_001982,p.S1049N|uc010sqc.2,p.S990N|uc009zok.3,p.S314N|ENST00000553131,p.S290N|uc001sjl.3,p.S169N	retained_intron, protein_coding, nonsense_mediated_decay	uc010sqc.2	nonsynonymous SNV	exon27	c.G2969A	p.S990N	TLNRPRGSQSLLSPSSGYMPMNQGN	TLNRPRGSQSLLNPSSGYMPMNQGN	10.0	10.0	-	-	4326_12:56493974-56493974 G>A_TLNRPRGSQSLLNPSSGYMPMNQGN
11:32874877-32874877 C>A	1.0	4326	BREAST	-	-	-	-	PRRG4	NM_024081,p.P162H|ENST00000257836,p.P162H|uc001mtx.3,p.P162H	protein_coding	uc001mtx.3	nonsynonymous SNV	exon6	c.C485A	p.P162H	CSSAVYERGRHTPSIIFRRPEEAAL	CSSAVYERGRHTHSIIFRRPEEAAL	5.0	6.0	-	-	4326_11:32874877-32874877 C>A_CSSAVYERGRHTHSIIFRRPEEAAL
16:71113803-71113803 C>G	1.0	4326	BREAST	-	-	-	-	HYDIN	ENST00000393550,p.G575R|ENST00000545230,p.G363R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000545230	nonsynonymous SNV	exon8	c.G1087C	p.G363R	PTFHFNVPALHFGDVSFATQELRDP	PTFHFNVPALHFRDVSFATQELRDP	5.0	7.0	-	-	4326_16:71113803-71113803 C>G_PTFHFNVPALHFRDVSFATQELRDP
15:82635194-82635194 T>C	1.0	4326	BREAST	-	rs1610794	-	-	GOLGA6L10	uc021ssn.1,p.E459G|NM_001164465,p.E502G|ENST00000439287,p.E459G	retained_intron, protein_coding	uc021ssn.1	nonsynonymous SNV	exon9	c.A1376G	p.E459G	EAVGTGEAAGGAEEAACHSFRAAEN	EAVGTGEAAGGAGEAACHSFRAAEN	5.0	6.0	-	-	4326_15:82635194-82635194 T>C_EAVGTGEAAGGAGEAACHSFRAAEN
5:159821449-159821449 A>T	1.0	4326	BREAST	-	-	-	-	ZBED8	uc003lyf.1,p.I350K|NM_022090,p.I350K|ENST00000408953,p.I350K|ENST00000523213,p.I350K|uc003lye.1,p.I350K|uc021yhc.1,p.I350K	protein_coding	uc021yhc.1	nonsynonymous SNV	exon1	c.T1049A	p.I350K	QILTHIFEMYEEINQFLHHKSSNLV	QILTHIFEMYEEKNQFLHHKSSNLV	5.0	4.0	-	-	4326_5:159821449-159821449 A>T_QILTHIFEMYEEKNQFLHHKSSNLV
12:11244435-11244435 T>C	1.0	4326	BREAST	-	rs111525185	-	-	TAS2R43	ENST00000531678,p.M132V|uc001qzq.1,p.M132V|NM_176884,p.M132V	protein_coding	uc001qzq.1	nonsynonymous SNV	exon1	c.A394G	p.M132V	HLKRRVKSVILVMLLGPLLFLACHL	HLKRRVKSVILVVLLGPLLFLACHL	5.0	10.0	-	-	4326_12:11244435-11244435 T>C_HLKRRVKSVILVVLLGPLLFLACHL
22:21343966-21344002 GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA>-	0.0	4326	BREAST	-	-	-	1	LZTR1	uc010gsr.1,p.87_88del|uc002ztn.3,p.175_176del|uc011ahy.2,p.197_198del|NM_006767,p.216_217del|ENST00000215739,p.216_217del|uc002zto.3,p.216_217del|ENST00000389355,p.197_198del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ahy.2	nonframeshift deletion	exon6	c.589_594del	p.197_198del	TIGLQDRELTCWEEVAQSGEIPPSCC	TIGLQDRELTCWVAQSGEIPPSCCN	9.0	1.0	-	-	4326_22:21343966-21344002 GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA>-_TIGLQDRELTCWVAQSGEIPPSCCN
2:131414737-131414737 A>G	0.0	4326	BREAST	-	rs4531942	-	-	POTEJ	NM_001277083,p.M802V|ENST00000409602,p.M802V|uc021vor.2,p.M802V	protein_coding	uc021vor.2	nonsynonymous SNV	exon15	c.A2404G	p.M802V	FNTPAMYVAIQAMLSLYTSGRTTGI	FNTPAMYVAIQAVLSLYTSGRTTGI	9.0	4.0	-	-	4326_2:131414737-131414737 A>G_FNTPAMYVAIQAVLSLYTSGRTTGI
9:35389882-35389882 C>T	1.0	4326	BREAST	-	-	-	-	UNC13B	NM_006377,p.R963W|ENST00000378496,p.R963W|ENST00000396787,p.R975W|uc003zwq.3,p.R963W|ENST00000378495,p.R963W|uc003zwr.3,p.R963W	protein_coding, processed_transcript	uc003zwr.3	nonsynonymous SNV	exon24	c.C2887T	p.R963W	QELPPEEQGPSIRNLDFWPKLITLI	QELPPEEQGPSIWNLDFWPKLITLI	8.0	10.0	-	-	4326_9:35389882-35389882 C>T_QELPPEEQGPSIWNLDFWPKLITLI
1:155311729-155311729 A>T	1.0	4326	BREAST	-	-	-	-	ASH1L	NM_018489,p.S2820T|ENST00000368346,p.S2825T|uc001fkt.3,p.S2820T|uc009wqq.3,p.S2825T|ENST00000392403,p.S2820T	retained_intron, protein_coding, nonsense_mediated_decay	uc009wqq.3	nonsynonymous SNV	exon25	c.T8473A	p.S2825T	HFPKKLTPKKDFSPHYVPDNYKRNG	HFPKKLTPKKDFTPHYVPDNYKRNG	9.0	5.0	-	-	4326_1:155311729-155311729 A>T_HFPKKLTPKKDFTPHYVPDNYKRNG
9:94487086-94487102 ATTCGTGGAGGTCGCCG>-	0.0	4326	BREAST	-	-	-	-	ROR2	uc004ari.1,p.H418fs|ENST00000375715,p.H418fs|NM_004560,p.H558fs|ENST00000375708,p.H558fs|uc004arj.2,p.H558fs	retained_intron, protein_coding, processed_transcript	uc004arj.2	frameshift deletion	exon9	c.1674_1690del	p.H558fs	DQPLSMIFSYCSHGDLHEFLVMRSPH	DQPLSMIFSYCSHPGHALAALGRGQHR	5.0	8.0	-	-	4326_9:94487086-94487102 ATTCGTGGAGGTCGCCG>-_DQPLSMIFSYCSHPGHALAALGRGQHR
17:2867315-2867315 G>C	1.0	4326	BREAST	-	-	-	-	RAP1GAP2	ENST00000254695,p.E149Q|ENST00000540393,p.E130Q|uc010ckd.3,p.E149Q|uc010cke.3,p.E134Q|ENST00000366401,p.E134Q|NM_015085,p.E149Q|NM_001100398,p.E134Q|ENST00000542807,p.E149Q	retained_intron, protein_coding, processed_transcript	uc010cke.3	nonsynonymous SNV	exon6	c.G400C	p.E134Q	DNLSPNTFGYKLECKGEARAYRRHF	DNLSPNTFGYKLQCKGEARAYRRHF	7.0	6.0	-	-	4326_17:2867315-2867315 G>C_DNLSPNTFGYKLQCKGEARAYRRHF
6:44116015-44116015 G>T	1.0	4326	BREAST	-	-	-	-	TMEM63B	uc003owr.3,p.K338N|uc003ows.3,p.K241N|uc003owq.1,p.K338N|NM_018426,p.K338N|ENST00000259746,p.K338N|ENST00000323267,p.K338N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ows.3	nonsynonymous SNV	exon10	c.G723T	p.K241N	GCEQVEAIEYYTKLEQKLKEDYKRE	GCEQVEAIEYYTNLEQKLKEDYKRE	10.0	8.0	-	-	4326_6:44116015-44116015 G>T_GCEQVEAIEYYTNLEQKLKEDYKRE
8:53569850-53569850 T>C	1.0	4326	BREAST	-	-	-	-	RB1CC1	ENST00000539297,p.I847V|ENST00000435644,p.I847V|ENST00000025008,p.I847V|NM_001083617,p.I847V|NM_014781,p.I847V|uc003xrf.4,p.I847V|uc003xre.4,p.I847V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003xrf.4	nonsynonymous SNV	exon15	c.A2539G	p.I847V	NSLKCTAVEIRNIIEKVKCSLEITL	NSLKCTAVEIRNVIEKVKCSLEITL	7.0	2.0	-	-	4326_8:53569850-53569850 T>C_NSLKCTAVEIRNVIEKVKCSLEITL
10:3143597-3143597 G>A	1.0	4326	BREAST	-	-	-	-	PFKP	uc001igq.3,p.R94H|ENST00000407806,p.R64H|ENST00000421751,p.R64H|ENST00000381125,p.R102H|ENST00000381075,p.R94H|NM_002627,p.R102H|NM_001242339,p.R94H|uc009xhr.3,p.R64H|uc001igp.3,p.R102H	protein_coding, processed_transcript	uc009xhr.3	nonsynonymous SNV	exon4	c.G191A	p.R64H	GTIIGSARCQAFRTREGRLKAACNL	GTIIGSARCQAFHTREGRLKAACNL	10.0	10.0	-	-	4326_10:3143597-3143597 G>A_GTIIGSARCQAFHTREGRLKAACNL
1:228492935-228492935 G>A	1.0	4326	BREAST	-	-	-	-	OBSCN	NM_001271223,p.G4793E|ENST00000570156,p.G4793E|ENST00000366707,p.G1470E|uc001hsq.2,p.G4793E	retained_intron, protein_coding, processed_transcript	uc001hsq.2	nonsynonymous SNV	exon54	c.G14378A	p.G4793E	ELSKVAPVEWRKGPETLRDGDRYNL	ELSKVAPVEWRKEPETLRDGDRYNL	10.0	1.0	-	-	4326_1:228492935-228492935 G>A_ELSKVAPVEWRKEPETLRDGDRYNL
17:42978470-42978470 G>T	1.0	4326	BREAST	-	-	-	-	CCDC103	ENST00000357776,p.R35L|NM_213607,p.R35L|NM_001258399,p.R35L|NM_001258395,p.R35L|ENST00000410027,p.R35L|uc031rba.1,p.R35L|uc002iho.4,p.R35L|NM_001258398,p.R35L|NM_001258396,p.R35L|ENST00000417826,p.R35L|uc031ray.1,p.R35L|NM_001258397,p.R35L|ENST00000577339,p.R35L|ENST00000410006,p.R35L|uc031raz.1,p.R35L|uc031rax.1,p.R35L|uc031raw.1,p.R35L	protein_coding	uc031rba.1	nonsynonymous SNV	exon2	c.G104T	p.R35L	DEKYKRENAAKLRAVEQRVASYEEF	DEKYKRENAAKLLAVEQRVASYEEF	4.0	10.0	-	-	4326_17:42978470-42978470 G>T_DEKYKRENAAKLLAVEQRVASYEEF
19:19030100-19030100 A>C	1.0	4326	BREAST	-	-	-	-	COPE	ENST00000600932,p.F20V|NM_199444,p.F20V|ENST00000351079,p.F20V|NM_199442,p.F20V|ENST00000593827,p.F20V|uc002nkk.3,p.F20V|uc002nkm.3,p.F20V|uc002nkl.3,p.F20V|ENST00000349893,p.F20V|NM_007263,p.F20V|ENST00000262812,p.F20V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002nkm.3	nonsynonymous SNV	exon1	c.T58G	p.F20V	PASGGSGEVDELFDVKNAFYIGSYQ	PASGGSGEVDELVDVKNAFYIGSYQ	10.0	2.0	-	-	4326_19:19030100-19030100 A>C_PASGGSGEVDELVDVKNAFYIGSYQ
8:48647912-48647912 T>C	1.0	4326	BREAST	-	-	-	-	SPIDR	uc003xqd.3,p.L883S|uc011ldf.2,p.L388S|uc003xqe.3,p.L358S|NM_001080394,p.L883S|ENST00000297423,p.L883S|uc011ldg.2,p.L373S|ENST00000517693,p.L358S|uc011ldc.2,p.L813S|NM_001282916,p.L813S|ENST00000541342,p.L813S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011ldg.2	nonsynonymous SNV	exon10	c.T1118C	p.L373S	EVKSVLGKEVGLLNCFVQSVTAHPT	EVKSVLGKEVGLSNCFVQSVTAHPT	10.0	1.0	-	-	4326_8:48647912-48647912 T>C_EVKSVLGKEVGLSNCFVQSVTAHPT
6:31083962-31083962 G>T	1.0	4326	BREAST	-	-	-	-	CDSN	uc003nsm.2,p.P477H|ENST00000376288,p.P477H|NM_001264,p.P477H	protein_coding	uc003nsm.2	nonsynonymous SNV	exon2	c.C1430A	p.P477H	LTLTGGPDGSPHPDPSAGAKPCGSS	LTLTGGPDGSPHHDPSAGAKPCGSS	8.0	4.0	-	-	4326_6:31083962-31083962 G>T_LTLTGGPDGSPHHDPSAGAKPCGSS
1:112042951-112042951 A>C	0.0	4326	BREAST	-	-	-	-	ADORA3	NM_000677,p.M193R|ENST00000241356,p.M193R|uc001ebh.4,p.M193R	protein_coding, processed_transcript	uc001ebh.4	nonsynonymous SNV	exon2	c.T578G	p.M193R	SFLTWIFIPLVVMCAIYLDIFYIIR	SFLTWIFIPLVVRCAIYLDIFYIIR	6.0	2.0	-	-	4326_1:112042951-112042951 A>C_SFLTWIFIPLVVRCAIYLDIFYIIR
12:113596697-113596697 C>T	1.0	4326	BREAST	-	-	-	-	DDX54	ENST00000314045,p.M878I|uc001tup.3,p.M877I|ENST00000306014,p.M877I|uc001tuq.4,p.M878I|NM_024072,p.M877I|NM_001111322,p.M878I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001tuq.4	nonsynonymous SNV	exon20	c.G2634A	p.M878I	AFGRGARSKKGKMRKRM	AFGRGARSKKGKIRKRM	8.0	8.0	-	-	4326_12:113596697-113596697 C>T_AFGRGARSKKGKIRKRM
7:5567970-5567996 GATGACCTGGCCGTCAGGCAGCTCGTA>-	0.0	4326	BREAST	-	-	-	-	ACTB	uc003sor.4,p.118_126del|uc003sot.4,p.240_248del|uc003soq.4,p.118_126del|ENST00000331789,p.240_248del|NM_001101,p.240_248del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003sot.4	nonframeshift deletion	exon4	c.718_744del	p.240_248del	ATAASSSSLEKSYELPDGQVITIGNE	ATAASSSSLEKSTIGNERFRCPEAL	10.0	6.0	-	-	4326_7:5567970-5567996 GATGACCTGGCCGTCAGGCAGCTCGTA>-_ATAASSSSLEKSTIGNERFRCPEAL
8:143623482-143623482 G>A	1.0	4326	BREAST	-	-	-	-	BAI1	ENST00000323289,p.G1296D|ENST00000517894,p.G1296D|NM_001702,p.G1296D|uc003ywm.3,p.G1296D	retained_intron, protein_coding, nonsense_mediated_decay	uc003ywm.3	nonsynonymous SNV	exon27	c.G3887A	p.G1296D	SKLHLHGSPRYPGGPLPDFPNHSLT	SKLHLHGSPRYPDGPLPDFPNHSLT	4.0	5.0	-	-	4326_8:143623482-143623482 G>A_SKLHLHGSPRYPDGPLPDFPNHSLT
15:55838405-55838405 C>T	0.0	4326	BREAST	-	-	-	-	PYGO1	ENST00000302000,p.C359Y|ENST00000563719,p.C359Y|NM_015617,p.C359Y|uc002adf.1,p.C359Y|uc010bfl.1,p.C359Y	protein_coding	uc010bfl.1	nonsynonymous SNV	exon3	c.G1076A	p.C359Y	TNEVNDDQDAILCEASCQKWFHRIC	TNEVNDDQDAILYEASCQKWFHRIC	5.0	3.0	-	-	4326_15:55838405-55838405 C>T_TNEVNDDQDAILYEASCQKWFHRIC
2:69409628-69409628 C>T	1.0	4326	BREAST	-	-	ID=COSM3055976;OCCURENCE=1(kidney)	-	ANTXR1	ENST00000303714,p.R397C|uc002sfg.3,p.R397C|NM_032208,p.R397C	retained_intron, protein_coding	uc002sfg.3	nonsynonymous SNV	exon16	c.C1189T	p.R397C	GRGVGGIKRMEVRWGEKGSTEEGAK	GRGVGGIKRMEVCWGEKGSTEEGAK	10.0	6.0	-	-	4326_2:69409628-69409628 C>T_GRGVGGIKRMEVCWGEKGSTEEGAK
3:129158573-129158573 C>T	1.0	4326	BREAST	-	-	-	-	MBD4	uc003emj.2,p.R35H|NM_001276270,p.R35H|ENST00000507208,p.R35H|ENST00000503197,p.R35H|NM_001276273,p.R35H|NM_001276271,p.R35H|ENST00000429544,p.R35H|ENST00000393278,p.R35H|ENST00000249910,p.R35H|uc011bkw.2,p.R35H|uc003emk.2,p.R35H|uc003emh.2,p.R35H|NM_001276272,p.R35H|uc003emi.2,p.R35H|NM_003925,p.R35H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bkw.2	nonsynonymous SNV	exon1	c.G104A	p.R35H	SERLVPDPPNDLRKEDVAMELERVG	SERLVPDPPNDLHKEDVAMELERVG	9.0	6.0	-	-	4326_3:129158573-129158573 C>T_SERLVPDPPNDLHKEDVAMELERVG
12:7252304-7252316 CTCCCCATCCTGT>-	1.0	4326	BREAST	-	-	-	-	C1RL	ENST00000539803,p.D34fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000539803	frameshift deletion	exon2	c.101_113del	p.D34fs	HSPVQPQGPGKTDRMGRRFFSVCLAV	HSPVQPQGPGKTGGSSVYAWLWIIC	7.0	5.0	unscreened	-	4326_12:7252304-7252316 CTCCCCATCCTGT>-_HSPVQPQGPGKTGGSSVYAWLWIIC
16:57507635-57507635 C>T	1.0	4326	BREAST	-	-	-	-	DOK4	ENST00000566936,p.G251D|uc010cdb.3,p.G251D|uc002elv.4,p.G251D|ENST00000340099,p.G251D|ENST00000569548,p.G251D|NM_018110,p.G251D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010cdb.3	nonsynonymous SNV	exon7	c.G752A	p.G251D	LEMEKNVRLLNKGTEHYSYPCTPTT	LEMEKNVRLLNKDTEHYSYPCTPTT	6.0	9.0	-	-	4326_16:57507635-57507635 C>T_LEMEKNVRLLNKDTEHYSYPCTPTT
3:5024830-5024830 G>C	1.0	4326	BREAST	-	-	-	-	BHLHE40	uc011asw.2,p.S91T|uc003bqf.3,p.S231T|ENST00000256495,p.S231T|NM_003670,p.S231T	retained_intron, protein_coding	uc011asw.2	nonsynonymous SNV	exon4	c.G272C	p.S91T	CVPVIQRTFAHSSGEQSGSDTDTDS	CVPVIQRTFAHSTGEQSGSDTDTDS	9.0	2.0	-	-	4326_3:5024830-5024830 G>C_CVPVIQRTFAHSTGEQSGSDTDTDS
11:33373689-33373689 A>G	1.0	4326	BREAST	0.0005	-	-	-	HIPK3	uc001mul.2,p.I1017V|NM_001278162,p.I996V|ENST00000456517,p.I996V|ENST00000525975,p.I996V|NM_001278163,p.I996V|NM_001048200,p.I996V|NM_005734,p.I1017V|ENST00000379016,p.I996V|uc001mum.2,p.I996V|ENST00000303296,p.I1017V|uc031pzm.1,p.I996V|uc009yjv.2,p.I996V	protein_coding, processed_transcript	uc031pzm.1	nonsynonymous SNV	exon15	c.A2986G	p.I996V	LNADEHMANTDSICQPLIKGRSAPG	LNADEHMANTDSVCQPLIKGRSAPG	10.0	10.0	-	-	4326_11:33373689-33373689 A>G_LNADEHMANTDSVCQPLIKGRSAPG
7:134618622-134618624 GAG>-	1.0	4326	BREAST	-	-	-	-	CALD1	uc003vrz.3,p.368_368del|uc003vse.3,p.232_232del|NM_033138,p.368_368del|ENST00000361675,p.368_368del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vse.3	nonframeshift deletion	exon1	c.694_696del	p.232_232del	RQRIKEEEKRAAEERQRARAEEEEKA	RQRIKEEEKRAAERQRARAEEEEKA	10.0	10.0	-	-	4326_7:134618622-134618624 GAG>-_RQRIKEEEKRAAERQRARAEEEEKA
15:57745949-57745949 C>T	1.0	4326	BREAST	-	-	-	-	CGNL1	ENST00000281282,p.S708L|NM_001252335,p.S708L|uc010bfw.3,p.S708L|uc002aeg.3,p.S708L|NM_032866,p.S708L	protein_coding, processed_transcript	uc010bfw.3	nonsynonymous SNV	exon8	c.C2123T	p.S708L	HQTEIRDLQDQLSEMHDELDSAKRS	HQTEIRDLQDQLLEMHDELDSAKRS	6.0	4.0	-	-	4326_15:57745949-57745949 C>T_HQTEIRDLQDQLLEMHDELDSAKRS
19:54744711-54744711 C>G	1.0	4326	BREAST	-	rs77137660	-	-	LILRA6,LILRB3	uc010yeq.1,p.M317I|uc002qev.1,p.M178I|uc002qek.1,p.M317I|uc002qeo.1,p.M317I|ENST00000419410,p.M317I|uc002qel.1,p.M317I|uc010yep.1,p.M317I|ENST00000245621,p.M317I|ENST00000440558,p.M317I|uc002qeu.1,p.M317I|ENST00000396365,p.M317I|uc002qeq.1,p.M317I	retained_intron, protein_coding, nonsense_mediated_decay	uc010yeq.1	nonsynonymous SNV	exon5	c.G951C	p.M317I	EWSAPSDPLNILMAGQIYDTVSLSA	EWSAPSDPLNILIAGQIYDTVSLSA	8.0	9.0	unscreened	-	4326_19:54744711-54744711 C>G_EWSAPSDPLNILIAGQIYDTVSLSA
15:32685308-32685308 G>A	1.0	4326	BREAST	-	-	-	-	GOLGA8K	ENST00000512626,p.P551L|NM_001282493,p.P551L	protein_coding	NM_001282493	nonsynonymous SNV	exon18	c.C1652T	p.P551L	NGHRKFLAAAHNPADEPGPGAPAPQ	NGHRKFLAAAHNLADEPGPGAPAPQ	6.0	6.0	-	-	4326_15:32685308-32685308 G>A_NGHRKFLAAAHNLADEPGPGAPAPQ
19:21606900-21606900 G>T	0.0	4326	BREAST	-	-	-	-	ZNF493	uc021urq.1,p.R352M|uc002npx.3,p.R352M|uc002npw.3,p.R480M|uc002npy.3,p.R352M|NM_175910,p.R352M|ENST00000355504,p.R352M|NM_001076678,p.R480M|ENST00000392288,p.R480M	retained_intron, protein_coding, nonsense_mediated_decay	uc021urq.1	nonsynonymous SNV	exon1	c.G1055T	p.R352M	KAFKRSSTLTKHRIIHTEEKPYKCE	KAFKRSSTLTKHMIIHTEEKPYKCE	10.0	6.0	-	-	4326_19:21606900-21606900 G>T_KAFKRSSTLTKHMIIHTEEKPYKCE
9:116930862-116930862 G>A	1.0	4326	BREAST	-	-	-	-	COL27A1	uc010mvd.2,p.G193S|uc011lxl.2,p.G343S|ENST00000451716,p.G290S|NM_032888,p.G343S|ENST00000356083,p.G343S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lxl.2	nonsynonymous SNV	exon3	c.G1027A	p.G343S	NALDPMLPASVGGSTRTPRPAAAQP	NALDPMLPASVGSSTRTPRPAAAQP	6.0	10.0	-	-	4326_9:116930862-116930862 G>A_NALDPMLPASVGSSTRTPRPAAAQP
6:42713017-42713017 A>-	1.0	4326	BREAST	-	-	-	-	TBCC	ENST00000244625,p.S265fs|NM_003192,p.S265fs|uc003osl.3,p.S265fs|ENST00000372876,p.S265fs	protein_coding, processed_transcript	uc003osl.3	frameshift deletion	exon1	c.795delT	p.S265fs	VLAVACQQLRIHSTKDTRIFLQVTSR	VLAVACQQLRIHRRKTPASSCR	6.0	9.0	-	-	4326_6:42713017-42713017 A>-_VLAVACQQLRIHRRKTPASSCR
14:24886191-24886191 C>G	0.0	4326	BREAST	-	-	-	-	NYNRIN	ENST00000382554,p.L1746V|NM_025081,p.L1746V|uc001wpf.4,p.L1746V	protein_coding, processed_transcript	uc001wpf.4	nonsynonymous SNV	exon9	c.C5236G	p.L1746V	GKKWAASLPLLHLAFRASSTDATPF	GKKWAASLPLLHVAFRASSTDATPF	6.0	5.0	-	-	4326_14:24886191-24886191 C>G_GKKWAASLPLLHVAFRASSTDATPF
21:10943003-10943003 C>T	0.0	4326	BREAST	-	rs1810856	-	-	TPTE	NM_001290224,p.R57Q|uc010gkv.1,p.R57Q|NM_199261,p.R195Q|uc002yip.1,p.R195Q|ENST00000361285,p.R195Q|uc002yir.1,p.R157Q|NM_199259,p.R177Q|ENST00000342420,p.R157Q|NM_199260,p.R157Q|ENST00000298232,p.R177Q|uc002yiq.1,p.R177Q	protein_coding, processed_transcript	uc010gkv.1	nonsynonymous SNV	exon7	c.G170A	p.R57Q	LLRNIPRWTHLLRLLRLIILLRIFH	LLRNIPRWTHLLQLLRLIILLRIFH	1.0	3.0	-	-	4326_21:10943003-10943003 C>T_LLRNIPRWTHLLQLLRLIILLRIFH
8:77896051-77896051 C>T	1.0	4326	BREAST	-	-	-	-	PEX2	ENST00000518986,p.D122N|uc022awg.1,p.D122N|uc003yax.3,p.D122N|NM_000318,p.D122N|uc022awf.1,p.D122N|ENST00000520103,p.D122N|NM_001079867,p.D122N|ENST00000522527,p.D122N|NM_001172086,p.D122N|uc022awe.1,p.D122N|ENST00000357039,p.D122N|ENST00000419564,p.D122N|NM_001172087,p.D122N|uc003yay.3,p.D122N	protein_coding, processed_transcript	uc022awg.1	nonsynonymous SNV	exon1	c.G364A	p.D122N	TIGGRWLEERCYDLFRNHHLASFGK	TIGGRWLEERCYNLFRNHHLASFGK	9.0	2.0	-	-	4326_8:77896051-77896051 C>T_TIGGRWLEERCYNLFRNHHLASFGK
4:187531021-187531034 CACAGGGGTATTAT>-	1.0	4326	BREAST	-	-	-	1	FAT1	NM_005245,p.D3330fs|uc003izf.3,p.D3330fs|ENST00000441802,p.D3330fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003izf.3	frameshift deletion	exon15	c.9989_10002del	p.D3330fs	VATVNVNVTDINDNTPVFSQDTYTTV	VATVNVNVTDINVQPRHLHDSHQ	9.0	5.0	-	-	4326_4:187531021-187531034 CACAGGGGTATTAT>-_VATVNVNVTDINVQPRHLHDSHQ
1:41948255-41948255 T>A	1.0	4326	BREAST	-	-	-	-	EDN2	NM_001956,p.T76S|ENST00000372587,p.T76S|uc001cgx.3,p.T76S	protein_coding, processed_transcript	uc001cgx.3	nonsynonymous SNV	exon3	c.A226T	p.T76S	HLDIIWVNTPEQTAPYGLGNPPRRR	HLDIIWVNTPEQSAPYGLGNPPRRR	8.0	5.0	-	-	4326_1:41948255-41948255 T>A_HLDIIWVNTPEQSAPYGLGNPPRRR
10:58119539-58119539 T>G	0.0	4326	BREAST	-	-	-	-	ZWINT	ENST00000395405,p.K111T|NM_007057,p.K111T|uc001jjx.1,p.K111T|NM_001005413,p.K111T|uc001jjy.1,p.K111T|ENST00000373944,p.K111T|NM_032997,p.K111T|uc001jka.1,p.K111T|ENST00000361148,p.K111T	protein_coding, processed_transcript	uc001jka.1	nonsynonymous SNV	exon4	c.A332C	p.K111T	LKATYREHVEAIKIGLTKALTQMEE	LKATYREHVEAITIGLTKALTQMEE	7.0	2.0	-	-	4326_10:58119539-58119539 T>G_LKATYREHVEAITIGLTKALTQMEE
13:42875461-42875461 A>T	1.0	4326	BREAST	-	-	-	-	AKAP11	ENST00000025301,p.Q860L|NM_016248,p.Q860L|uc001uys.2,p.Q860L	protein_coding	uc001uys.2	nonsynonymous SNV	exon8	c.A2579T	p.Q860L	NDFKPTNDDIEMQSSSKLPNDPAII	NDFKPTNDDIEMLSSSKLPNDPAII	7.0	1.0	-	-	4326_13:42875461-42875461 A>T_NDFKPTNDDIEMLSSSKLPNDPAII
11:68830424-68830424 A>G	1.0	4326	BREAST	-	-	-	-	TPCN2	NM_139075,p.K207E|uc001oor.2,p.K122E|uc010rqg.1,p.K207E|uc001oos.2,p.K207E|ENST00000542467,p.K207E|ENST00000294309,p.K207E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rqg.1	nonsynonymous SNV	exon6	c.A619G	p.K207E	LLQNSSMMKKTLKCIRWSLPEMASV	LLQNSSMMKKTLECIRWSLPEMASV	6.0	9.0	-	-	4326_11:68830424-68830424 A>G_LLQNSSMMKKTLECIRWSLPEMASV
16:50186883-50186883 C>T	0.0	4326	BREAST	-	-	-	-	PAPD5	uc002efz.3,p.S7L|ENST00000436909,p.S7L|NM_001040285,p.S7L|uc010vgo.2,p.S7L|NM_001040284,p.S7L	protein_coding, processed_transcript	uc010vgo.2	nonsynonymous SNV	exon1	c.C20T	p.S7L	MRPRPRSAPGKPRRRSRAR	MRPRPRLAPGKPRRRSRAR	7.0	3.0	-	-	4326_16:50186883-50186883 C>T_MRPRPRLAPGKPRRRSRAR
1:150933446-150933446 C>G	1.0	4326	BREAST	-	-	-	-	SETDB1	NM_012432,p.P970A|NM_001145415,p.P970A|uc001evv.2,p.P970A|ENST00000271640,p.P970A|uc009wmg.2,p.P970A|ENST00000498193,p.P970A|ENST00000368969,p.P970A|uc001evu.2,p.P970A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009wmg.2	nonsynonymous SNV	exon16	c.C2908G	p.P970A	PVPPSIPVGGCNPPSSEETPKNKVA	PVPPSIPVGGCNAPSSEETPKNKVA	10.0	5.0	-	-	4326_1:150933446-150933446 C>G_PVPPSIPVGGCNAPSSEETPKNKVA
12:3757673-3757673 G>T	0.0	4326	BREAST	-	-	-	-	CRACR2A	uc001qmj.2,p.P385T|NM_032680,p.P385T|ENST00000252322,p.P385T	protein_coding, processed_transcript, nonsense_mediated_decay	uc001qmj.2	nonsynonymous SNV	exon11	c.C1153A	p.P385T	RCVGGHWPVLRAPPRSLGSEGPV	RCVGGHWPVLRATPRSLGSEGPV	5.0	1.0	-	-	4326_12:3757673-3757673 G>T_RCVGGHWPVLRATPRSLGSEGPV
8:125575189-125575189 G>T	1.0	4326	BREAST	-	-	-	-	MTSS1	uc011lin.1,p.S24Y|ENST00000325064,p.S294Y|uc003yrj.2,p.S290Y|NM_014751,p.S290Y|ENST00000522118,p.S90Y|NM_001282971,p.S294Y|NM_001282974,p.S290Y|uc003yrl.2,p.S294Y|ENST00000431961,p.S90Y|ENST00000524090,p.S180Y|ENST00000378017,p.S290Y|uc003yrk.2,p.S290Y|ENST00000395508,p.S24Y|uc003yri.2,p.S90Y|ENST00000518547,p.S290Y|ENST00000354184,p.S90Y|uc011lio.1,p.S180Y	retained_intron, protein_coding, processed_transcript	uc011lio.1	nonsynonymous SNV	exon4	c.C539A	p.S180Y	NSVNSSDSRSSGSHSHSPSSHYRYR	NSVNSSDSRSSGYHSHSPSSHYRYR	9.0	4.0	-	-	4326_8:125575189-125575189 G>T_NSVNSSDSRSSGYHSHSPSSHYRYR
22:29876852-29876852 G>A	0.0	4326	BREAST	-	-	-	-	NEFH	ENST00000310624,p.A201T|uc003afo.3,p.A201T|NM_021076,p.A201T	protein_coding	uc003afo.3	nonsynonymous SNV	exon1	c.G601A	p.A201T	ARQREEAEAAARALARFAQEAEAAR	ARQREEAEAAARTLARFAQEAEAAR	5.0	8.0	-	-	4326_22:29876852-29876852 G>A_ARQREEAEAAARTLARFAQEAEAAR
10:135082978-135082978 C>G	0.0	4326	BREAST	-	-	-	-	ADAM8	NM_001164489,p.C640S|uc009ybi.3,p.C640S|ENST00000415217,p.C640S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009ybi.3	nonsynonymous SNV	exon18	c.G1919C	p.C640S	ECHCHAGWAPPHCAKLLTEVHAGCQ	ECHCHAGWAPPHSAKLLTEVHAGCQ	7.0	4.0	-	-	4326_10:135082978-135082978 C>G_ECHCHAGWAPPHSAKLLTEVHAGCQ
16:68042-68042 C>T	1.0	4326	BREAST	-	rs76638931	-	-	MIR6859-1,MIR6859-2	ENST00000326592,p.R72Q|uc002cfg.1,p.R72Q	retained_intron, protein_coding, nonsense_mediated_decay	uc002cfg.1	nonsynonymous SNV	exon2	c.G215A	p.R72Q	DGSRISQQVEQSRSQVQAIGEKVSL	DGSRISQQVEQSQSQVQAIGEKVSL	10.0	2.0	-	-	4326_16:68042-68042 C>T_DGSRISQQVEQSQSQVQAIGEKVSL
10:135082978-135082978 C>G	0.0	4326	BREAST	-	-	-	-	ADAM8	ENST00000485491,p.C575S|ENST00000445355,p.C640S|NM_001109,p.C640S|uc010qva.2,p.C575S|uc021qbe.1,p.C640S|NM_001164490,p.C575S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qbe.1	nonsynonymous SNV	exon18	c.G1919C	p.C640S	ECHCHAGWAPPHCAKLLTEVHAASG	ECHCHAGWAPPHSAKLLTEVHAASG	7.0	4.0	-	-	4326_10:135082978-135082978 C>G_ECHCHAGWAPPHSAKLLTEVHAASG
13:25671865-25671865 C>T	0.0	4326	BREAST	-	-	-	-	PABPC3	NM_030979,p.A510V|uc001upy.3,p.A510V|ENST00000281589,p.A510V	protein_coding	uc001upy.3	nonsynonymous SNV	exon1	c.C1529T	p.A510V	PAVRTVPRYKYAAGVRNPQQHRNAQ	PAVRTVPRYKYAVGVRNPQQHRNAQ	5.0	10.0	-	-	4326_13:25671865-25671865 C>T_PAVRTVPRYKYAVGVRNPQQHRNAQ
8:27528651-27528651 G>A	1.0	4326	BREAST	-	-	-	-	SCARA3	uc003xga.1,p.G535E|ENST00000301904,p.G535E|NM_016240,p.G535E	protein_coding	uc003xga.1	nonsynonymous SNV	exon6	c.G1604A	p.G535E	GSKGSFGTGGPRGQPGPKGDIGPPG	GSKGSFGTGGPREQPGPKGDIGPPG	8.0	10.0	-	-	4326_8:27528651-27528651 G>A_GSKGSFGTGGPREQPGPKGDIGPPG
12:122839682-122839682 C>A	1.0	4326	BREAST	-	-	-	1	CLIP1	NM_001247997,p.A395S|NM_198240,p.A395S|uc001uci.1,p.A395S|uc001ucg.2,p.A395S|ENST00000358808,p.A395S|uc001uch.1,p.A395S|ENST00000537178,p.A395S|uc001ucj.1,p.A96S|ENST00000361654,p.A395S|ENST00000302528,p.A395S|ENST00000540338,p.A395S|NM_002956,p.A395S|ENST00000545889,p.A96S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ucj.1	nonsynonymous SNV	exon3	c.G286T	p.A96S	SHVGEIEQELALARDGHDQHVLELE	SHVGEIEQELALSRDGHDQHVLELE	8.0	9.0	-	-	4326_12:122839682-122839682 C>A_SHVGEIEQELALSRDGHDQHVLELE
19:4322957-4323011 CCCACCCCTCCTGCCCTGCGCCACAGGGGACACGCTGATCGACGGCGGGGAGCAT>-	0.0	4326	BREAST	-	-	-	-	FSD1	NM_024333,p.G347fs|uc002maa.2,p.G160fs|uc002lzy.2,p.G347fs|ENST00000221856,p.G347fs	retained_intron, protein_coding, processed_transcript	uc002maa.2	frameshift deletion	exon5	c.479_507del	p.G160fs	RDRFTAESYTVLGDTLIDGGEHYWEV	RDRFTAESYTVLVLGGALRAGQQGVRRGRGLPQPGPLRATGQDGRLLVPARQQLAAGQLHGQARQQGQGAGRPRARLPGCAL	4.0	5.0	-	-	4326_19:4322957-4323011 CCCACCCCTCCTGCCCTGCGCCACAGGGGACACGCTGATCGACGGCGGGGAGCAT>-_RDRFTAESYTVLVLGGALRAGQQGVRRGRGLPQPGPLRATGQDGRLLVPARQQLAAGQLHGQARQQGQGAGRPRARLPGCAL
2:120194523-120194523 G>A	0.0	4326	BREAST	0.0005	-	-	-	TMEM37	ENST00000417645,p.G33R	protein_coding, processed_transcript	ENST00000417645	nonsynonymous SNV	exon2	c.G97A	p.G33R	GSPAGPSLNPSSGPSSSRVWPWLWS	GSPAGPSLNPSSRPSSSRVWPWLWS	5.0	7.0	unscreened	-	4326_2:120194523-120194523 G>A_GSPAGPSLNPSSRPSSSRVWPWLWS
1:202565938-202565938 G>C	0.0	4326	BREAST	-	-	-	-	SYT2	uc009xaf.3,p.H233D|uc001gye.3,p.H403D|ENST00000367268,p.H403D|uc010pqb.2,p.H403D|NM_001136504,p.H403D|ENST00000367267,p.H403D|NM_177402,p.H403D	protein_coding	uc010pqb.2	nonsynonymous SNV	exon9	c.C1207G	p.H403D	MLANPRRPIAQWHSLKPEEEVDALL	MLANPRRPIAQWDSLKPEEEVDALL	1.0	4.0	-	-	4326_1:202565938-202565938 G>C_MLANPRRPIAQWDSLKPEEEVDALL
6:29054625-29054625 A>C	0.0	4326	BREAST	-	-	-	-	OR2B3	NM_001005226,p.V134G|ENST00000377173,p.V134G|uc003nlx.3,p.V134G	protein_coding	uc003nlx.3	nonsynonymous SNV	exon1	c.T401G	p.V134G	RYVAVCRPLHYVVIMNYWFCLRMAA	RYVAVCRPLHYVGIMNYWFCLRMAA	1.0	5.0	-	-	4326_6:29054625-29054625 A>C_RYVAVCRPLHYVGIMNYWFCLRMAA
3:108110706-108110706 A>T	1.0	4326	BREAST	-	-	-	-	MYH15	NM_014981,p.N1797K|ENST00000273353,p.N1797K|uc003dxa.1,p.N1797K	retained_intron, protein_coding, processed_transcript	uc003dxa.1	nonsynonymous SNV	exon38	c.T5391A	p.N1797K	QDTIAHLERTRENMEQTITDLQKRL	QDTIAHLERTREKMEQTITDLQKRL	4.0	10.0	-	-	4326_3:108110706-108110706 A>T_QDTIAHLERTREKMEQTITDLQKRL
2:210681738-210681738 G>C	1.0	4326	BREAST	-	-	-	-	UNC80	NM_182587,p.D481H|ENST00000272845,p.D481H|NM_032504,p.D481H|uc021vvx.1,p.D481H|ENST00000439458,p.D481H|uc010zjc.1,p.D481H	retained_intron, protein_coding, processed_transcript	uc021vvx.1	nonsynonymous SNV	exon10	c.G1441C	p.D481H	PRRMGVPFLLHEDHLDVSPTRSTFS	PRRMGVPFLLHEHHLDVSPTRSTFS	3.0	9.0	-	-	4326_2:210681738-210681738 G>C_PRRMGVPFLLHEHHLDVSPTRSTFS
12:53606949-53606949 ->GG	1.0	4326	BREAST	-	-	-	-	RARG	ENST00000425354,p.R366fs|uc001scg.3,p.R294fs|uc001scd.3,p.R355fs|ENST00000327550,p.R294fs|NM_001243731,p.R245fs|uc001sce.3,p.R366fs|NM_000966,p.R366fs|uc001scf.3,p.R366fs|uc010soc.2,p.R245fs|ENST00000543726,p.R344fs|uc010sob.2,p.R344fs|ENST00000394426,p.R366fs|NM_001243732,p.R344fs|NM_001243730,p.R294fs|ENST00000338561,p.R355fs|NM_001042728,p.R355fs	retained_intron, protein_coding, processed_transcript	uc010soc.2	frameshift insertion	exon7	c.733_734insCC	p.R245fs	QEPLLEALRLYARRRRPSQPYMFPR	QEPLLEALRLYAPGAGGPASPTCSQGC	6.0	6.0	-	-	4326_12:53606949-53606949 ->GG_QEPLLEALRLYAPGAGGPASPTCSQGC
2:196837053-196837053 G>C	0.0	4326	BREAST	-	-	-	-	DNAH7	NM_018897,p.F657L|ENST00000312428,p.F657L|uc002utj.4,p.F657L	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon16	c.C1971G	p.F657L	FSPADMRLNNSVFQWYGRMGEIFEE	FSPADMRLNNSVLQWYGRMGEIFEE	4.0	9.0	-	-	4326_2:196837053-196837053 G>C_FSPADMRLNNSVLQWYGRMGEIFEE
X:153692370-153692370 G>C	1.0	4326	BREAST	-	-	-	-	PLXNA3	NM_017514,p.V542L|uc004flm.3,p.V542L|ENST00000369682,p.V542L	retained_intron, protein_coding, processed_transcript	uc004flm.3	nonsynonymous SNV	exon7	c.G1624C	p.V542L	HGFAEELSKCVQVRVRPNNVSVTSP	HGFAEELSKCVQLRVRPNNVSVTSP	9.0	4.0	-	-	4326_X:153692370-153692370 G>C_HGFAEELSKCVQLRVRPNNVSVTSP
12:88390222-88390222 G>A	0.0	4326	BREAST	-	-	-	-	C12orf50	ENST00000298699,p.S137L|ENST00000550553,p.S137L|uc001tam.1,p.S137L|uc001tan.3,p.S191L|NM_152589,p.S137L	protein_coding, processed_transcript	uc001tan.3	nonsynonymous SNV	exon6	c.C572T	p.S191L	YYRFHTPPDILSSKSMTPTAEKQLE	YYRFHTPPDILSLKSMTPTAEKQLE	1.0	9.0	-	-	4326_12:88390222-88390222 G>A_YYRFHTPPDILSLKSMTPTAEKQLE
16:1265079-1265079 C>G	0.0	4326	BREAST	-	-	-	-	CACNA1H	uc002ckt.3,p.D1673E|ENST00000565831,p.D1673E|uc002cks.3,p.D1679E|uc002ckv.3,p.D379E|ENST00000348261,p.D1679E|uc010brj.3,p.D390E|NM_001005407,p.D1673E|NM_021098,p.D1679E|uc002cku.3,p.D385E|ENST00000358590,p.D1673E	retained_intron, protein_coding	uc010brj.3	nonsynonymous SNV	exon10	c.C1170G	p.D390E	KLVAFGFRRFFKDRWNQLDLAIVLL	KLVAFGFRRFFKERWNQLDLAIVLL	5.0	6.0	-	-	4326_16:1265079-1265079 C>G_KLVAFGFRRFFKERWNQLDLAIVLL
16:4936010-4936010 C>A	1.0	4326	BREAST	-	-	-	-	PPL	ENST00000345988,p.R882S|ENST00000592772,p.R303S|ENST00000590782,p.R880S|NM_002705,p.R882S|uc002cyd.1,p.R882S	retained_intron, protein_coding	uc002cyd.1	nonsynonymous SNV	exon22	c.G2646T	p.R882S	QPEVEVTHETLQRNRPDSGVEEAWK	QPEVEVTHETLQSNRPDSGVEEAWK	8.0	2.0	-	-	4326_16:4936010-4936010 C>A_QPEVEVTHETLQSNRPDSGVEEAWK
X:9900411-9900411 T>G	1.0	4326	BREAST	-	-	-	-	SHROOM2	uc004csu.1,p.L1030V|NM_001649,p.L1030V|ENST00000380913,p.L1030V	protein_coding, processed_transcript	uc004csu.1	nonsynonymous SNV	exon6	c.T3088G	p.L1030V	DYRYSEESTPADLGPRAQSPGSPLH	DYRYSEESTPADVGPRAQSPGSPLH	5.0	10.0	-	-	4326_X:9900411-9900411 T>G_DYRYSEESTPADVGPRAQSPGSPLH
10:99118345-99118345 C>G	1.0	4326	BREAST	-	-	-	-	RRP12	ENST00000315563,p.R1147P|uc009xvm.3,p.R965P|ENST00000536831,p.R965P|uc010qou.2,p.R1186P|uc009xvn.3,p.R1147P|uc001knf.3,p.R1247P|NM_001284337,p.R1147P|ENST00000414986,p.R1186P|NM_015179,p.R1247P|NM_001145114,p.R1186P|uc001kne.3,p.R262P|uc009xvl.3,p.R364P|ENST00000370992,p.R1247P	protein_coding, processed_transcript	uc010qou.2	nonsynonymous SNV	exon31	c.G3557C	p.R1186P	AKKAKGDVKKKGRPDPYAYIPLNRS	AKKAKGDVKKKGPPDPYAYIPLNRS	7.0	3.0	-	-	4326_10:99118345-99118345 C>G_AKKAKGDVKKKGPPDPYAYIPLNRS
7:146829397-146829397 A>G	0.0	4326	BREAST	-	-	-	2	CNTNAP2	uc003weu.2,p.S382G|ENST00000361727,p.S382G|NM_014141,p.S382G	protein_coding, processed_transcript	uc003weu.2	nonsynonymous SNV	exon8	c.A1144G	p.S382G	EPYTVPVFFNATSYLEVPGRLNQDL	EPYTVPVFFNATGYLEVPGRLNQDL	2.0	6.0	-	-	4326_7:146829397-146829397 A>G_EPYTVPVFFNATGYLEVPGRLNQDL
12:11214634-11214634 A>C	1.0	4326	BREAST	-	rs201585352	-	-	TAS2R46	ENST00000533467,p.V87G|NM_176887,p.V87G|uc001qzp.1,p.V87G	protein_coding	uc001qzp.1	nonsynonymous SNV	exon1	c.T260G	p.V87G	FNSIEVRITAYNVWAVINHFSNWLA	FNSIEVRITAYNGWAVINHFSNWLA	6.0	8.0	-	-	4326_12:11214634-11214634 A>C_FNSIEVRITAYNGWAVINHFSNWLA
3:129158573-129158573 C>T	1.0	4326	BREAST	-	-	-	-	MBD4	ENST00000509828,p.R35Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000509828	nonsynonymous SNV	exon1	c.G104A	p.R35Q	SERLVPDPPNDLRQNGNTCALEVSG	SERLVPDPPNDLQQNGNTCALEVSG	9.0	6.0	unscreened	-	4326_3:129158573-129158573 C>T_SERLVPDPPNDLQQNGNTCALEVSG
1:156640186-156640186 T>C	1.0	4326	BREAST	-	-	-	-	NES	NM_006617,p.E1265G|ENST00000368223,p.E1265G|uc021pbh.1,p.E183G|uc001fpq.3,p.E1265G	protein_coding	uc021pbh.1	nonsynonymous SNV	exon1	c.A548G	p.E183G	AEALGKVESEQEELGSGEIPEGPQE	AEALGKVESEQEGLGSGEIPEGPQE	9.0	7.0	-	-	4326_1:156640186-156640186 T>C_AEALGKVESEQEGLGSGEIPEGPQE
2:98408855-98408855 T>C	1.0	4326	BREAST	-	-	-	-	TMEM131	NM_015348,p.S1380G|uc002syh.4,p.S1380G|ENST00000186436,p.S1380G	retained_intron, protein_coding, nonsense_mediated_decay	uc002syh.4	nonsynonymous SNV	exon31	c.A4138G	p.S1380G	VFTEQPPSPLPKSKGKGKPLQRKVK	VFTEQPPSPLPKGKGKGKPLQRKVK	8.0	1.0	-	-	4326_2:98408855-98408855 T>C_VFTEQPPSPLPKGKGKGKPLQRKVK
7:6071139-6071139 G>C	1.0	4326	BREAST	-	-	-	-	ANKRD61	ENST00000409061,p.E45Q|NM_001271700,p.E45Q|uc031swn.1,p.E45Q	protein_coding	uc031swn.1	nonsynonymous SNV	exon1	c.G133C	p.E45Q	YEAIMREDCTTIEVLLRNHPVNQPI	YEAIMREDCTTIQVLLRNHPVNQPI	3.0	2.0	-	-	4326_7:6071139-6071139 G>C_YEAIMREDCTTIQVLLRNHPVNQPI
11:100999685-100999685 G>T	0.0	4326	BREAST	-	-	-	-	PGR	ENST00000263463,p.S39R|ENST00000526300,p.S39R|uc001pgh.2,p.S39R|ENST00000534780,p.S39R|ENST00000528960,p.S39R|ENST00000325455,p.S39R|NM_000926,p.S39R	retained_intron, protein_coding, nonsense_mediated_decay	uc001pgh.2	nonsynonymous SNV	exon1	c.C117A	p.S39R	LLCRPAAGPFPGSQTSDTLPEVSAI	LLCRPAAGPFPGRQTSDTLPEVSAI	2.0	9.0	-	-	4326_11:100999685-100999685 G>T_LLCRPAAGPFPGRQTSDTLPEVSAI
17:80040273-80040273 C>G	1.0	4326	BREAST	-	-	-	-	FASN	NM_004104,p.L1979F|uc002kdu.3,p.L1979F|ENST00000306749,p.L1979F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002kdu.3	nonsynonymous SNV	exon35	c.G5937C	p.L1979F	GVFNLAVVLRDGLLENQTPEFFQDV	GVFNLAVVLRDGFLENQTPEFFQDV	10.0	7.0	-	-	4326_17:80040273-80040273 C>G_GVFNLAVVLRDGFLENQTPEFFQDV
12:129563111-129563111 C>A	0.0	4326	BREAST	-	-	-	-	TMEM132D	uc009zyl.1,p.V695L|ENST00000422113,p.V695L|uc001uia.2,p.V233L|ENST00000389441,p.V233L|NM_133448,p.V695L	protein_coding	uc009zyl.1	nonsynonymous SNV	exon8	c.G2083T	p.V695L	SPGSNRAIFATAVAQELLQRPKQEA	SPGSNRAIFATALAQELLQRPKQEA	1.0	10.0	-	-	4326_12:129563111-129563111 C>A_SPGSNRAIFATALAQELLQRPKQEA
14:20010235-20010235 A>G	0.0	4326	BREAST	-	rs8135863	-	-	POTEM	ENST00000551509,p.V308A|ENST00000547848,p.V308A|NM_001145442,p.V308A|uc001vwc.3,p.V308A	protein_coding, nonsense_mediated_decay	uc001vwc.3	nonsynonymous SNV	exon5	c.T923C	p.V308A	ANLNALDRYGRTVLILAVCCGSASI	ANLNALDRYGRTALILAVCCGSASI	4.0	7.0	-	-	4326_14:20010235-20010235 A>G_ANLNALDRYGRTALILAVCCGSASI
10:5435709-5435709 G>A	0.0	4326	BREAST	0.0005	-	-	-	TUBAL3	ENST00000479328,p.P331L|NM_024803,p.P371L|ENST00000380419,p.P371L|uc001ihy.3,p.P371L|uc001ihz.3,p.P331L|NM_001171864,p.P331L	protein_coding	uc001ihz.3	nonsynonymous SNV	exon4	c.C992T	p.P331L	KVGINNRPPTVMPGGDLAKVHRSIC	KVGINNRPPTVMLGGDLAKVHRSIC	4.0	9.0	-	-	4326_10:5435709-5435709 G>A_KVGINNRPPTVMLGGDLAKVHRSIC
9:97879609-97879611 GCA>-	1.0	4326	BREAST	-	-	-	1	FANCC	ENST00000289081,p.353_354del|uc004avi.4,p.353_354del|NM_000136,p.353_354del|NM_001243744,p.353_354del|uc022bkl.1,p.353_354del|NM_001243743,p.353_354del|ENST00000375305,p.353_354del|uc004avh.3,p.353_354del	protein_coding, processed_transcript	uc022bkl.1	nonframeshift deletion	exon11	c.1058_1060del	p.353_354del	FPYTSPSLAMVLLQDPQDIPRGHWLQ	FPYTSPSLAMVLQDPQDIPRGHWLQ	7.0	4.0	-	-	4326_9:97879609-97879611 GCA>-_FPYTSPSLAMVLQDPQDIPRGHWLQ
1:4832537-4832537 C>T	0.0	4326	BREAST	-	-	-	-	AJAP1	uc001alm.1,p.T372M|uc001aln.3,p.T372M|ENST00000378191,p.T372M|ENST00000378190,p.T372M|NM_018836,p.T372M|NM_001042478,p.T372M	protein_coding, processed_transcript	uc001aln.3	nonsynonymous SNV	exon4	c.C1115T	p.T372M	CVRASVPVYTDETLHSTTGEYKSTF	CVRASVPVYTDEMLHSTTGEYKSTF	2.0	8.0	-	-	4326_1:4832537-4832537 C>T_CVRASVPVYTDEMLHSTTGEYKSTF
14:79432748-79432748 G>T	0.0	4326	BREAST	-	-	-	-	NRXN3	ENST00000335750,p.G553W|uc010asv.1,p.G678W|ENST00000554738,p.G915W|ENST00000554719,p.G553W|NM_004796,p.G553W|uc001xun.4,p.G553W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010asv.1	nonsynonymous SNV	exon8	c.G2032T	p.G678W	DGNDFIAVELVKGYIHYVFDLGNGP	DGNDFIAVELVKWYIHYVFDLGNGP	4.0	4.0	-	-	4326_14:79432748-79432748 G>T_DGNDFIAVELVKWYIHYVFDLGNGP
18:74963042-74963042 C>A	0.0	4326	BREAST	-	-	-	-	GALR1	uc002lms.4,p.R180S|ENST00000299727,p.R180S|NM_001480,p.R180S	protein_coding, processed_transcript	uc002lms.4	nonsynonymous SNV	exon1	c.C538A	p.R180S	SPVAYHQGLFHPRASNQTFCWEQWP	SPVAYHQGLFHPSASNQTFCWEQWP	1.0	8.0	-	-	4326_18:74963042-74963042 C>A_SPVAYHQGLFHPSASNQTFCWEQWP
12:52284785-52284785 C>G	0.0	4326	BREAST	-	-	-	-	ANKRD33	ENST00000301190,p.P352R|uc001rze.3,p.P248R|NM_182608,p.P352R|uc001rzd.3,p.P352R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rze.3	nonsynonymous SNV	exon6	c.C743G	p.P248R	KSVPELLGTAPPPPLVPQSPPGSPQ	KSVPELLGTAPPRPLVPQSPPGSPQ	2.0	10.0	-	-	4326_12:52284785-52284785 C>G_KSVPELLGTAPPRPLVPQSPPGSPQ
11:123810688-123810688 G>T	0.0	4326	BREAST	-	-	-	-	OR4D5	uc001pzk.1,p.R122L|ENST00000307033,p.R122L|NM_001001965,p.R122L	protein_coding	uc001pzk.1	nonsynonymous SNV	exon1	c.G365T	p.R122L	IKIFLLTVMAYDRYIAISQPLHYTL	IKIFLLTVMAYDLYIAISQPLHYTL	1.0	5.0	-	-	4326_11:123810688-123810688 G>T_IKIFLLTVMAYDLYIAISQPLHYTL
16:24580822-24580822 A>-	1.0	4326	BREAST	-	-	-	-	RBBP6	NM_018703,p.R903fs|uc002dmi.3,p.R903fs|uc002dmh.3,p.R937fs|uc010vcb.1,p.R804fs|ENST00000564314,p.R804fs|NM_006910,p.R937fs|ENST00000348022,p.R903fs|uc002dmk.3,p.R770fs|ENST00000319715,p.R937fs	retained_intron, protein_coding	uc010vcb.1	frameshift deletion	exon15	c.2412delA	p.R804fs	PGDGKGNKHKKHRKRRKGEESEGFLN	PGDGKGNKHKKHRKEEKGRKVRVF	8.0	5.0	-	-	4326_16:24580822-24580822 A>-_PGDGKGNKHKKHRKEEKGRKVRVF
16:65016072-65016072 C>T	0.0	4326	BREAST	-	-	-	1	CDH11	uc002eoj.3,p.D378N|uc010vin.2,p.D252N|ENST00000566827,p.D252N|ENST00000268603,p.D378N|uc002eoi.3,p.D378N|ENST00000394156,p.D378N|NM_001797,p.D378N	retained_intron, protein_coding, processed_transcript	uc010vin.2	nonsynonymous SNV	exon7	c.G754A	p.D252N	DTVTVKISVEDADEPPMFLAPSYIH	DTVTVKISVEDANEPPMFLAPSYIH	9.0	3.0	-	-	4326_16:65016072-65016072 C>T_DTVTVKISVEDANEPPMFLAPSYIH
19:54756803-54756803 C>T	0.0	4326	BREAST	-	-	-	-	LILRB5	uc002qez.3,p.V369I|uc002qey.3,p.V469I|NM_006840,p.V468I|NM_001081443,p.V369I|uc002qex.3,p.V468I|NM_001081442,p.V469I|ENST00000345866,p.V369I|ENST00000450632,p.V460I|ENST00000316219,p.V468I|uc010yer.1,p.V460I|ENST00000449561,p.V469I	retained_intron, protein_coding	uc010yer.1	nonsynonymous SNV	exon9	c.G1378A	p.V460I	HLGVVTGVSVAFVLLLFLLLFLLLR	HLGVVTGVSVAFILLLFLLLFLLLR	5.0	9.0	-	-	4326_19:54756803-54756803 C>T_HLGVVTGVSVAFILLLFLLLFLLLR
11:75298699-75298699 C>A	0.0	4326	BREAST	-	-	-	-	MAP6	uc001owu.3,p.G616V|NM_033063,p.G616V|ENST00000304771,p.G616V|ENST00000526740,p.G287V	protein_coding, processed_transcript	uc001owu.3	nonsynonymous SNV	exon4	c.G1847T	p.G616V	KDQGPIVPAPVKGEGPIVPAPVKDE	KDQGPIVPAPVKVEGPIVPAPVKDE	5.0	1.0	-	-	4326_11:75298699-75298699 C>A_KDQGPIVPAPVKVEGPIVPAPVKDE
1:248224587-248224587 A>G	0.0	4326	BREAST	-	-	-	-	OR2L3	ENST00000359959,p.T202A|uc001idx.1,p.T202A|NM_001004687,p.T202A	protein_coding	uc001idx.1	nonsynonymous SNV	exon1	c.A604G	p.T202A	DTWVYEGTVFLSTTIFLVFPFIAIS	DTWVYEGTVFLSATIFLVFPFIAIS	3.0	7.0	-	-	4326_1:248224587-248224587 A>G_DTWVYEGTVFLSATIFLVFPFIAIS
3:62388817-62388817 G>A	0.0	4326	BREAST	-	-	-	-	CADPS	uc021wzv.1,p.T1265M|uc003dln.2,p.T1195M|uc003dlm.2,p.T1235M|NM_003716,p.T1274M|uc003dlj.1,p.T229M|ENST00000283269,p.T1235M|NM_183394,p.T1235M|uc003dll.2,p.T1274M|uc003dlk.1,p.T722M|ENST00000383710,p.T1274M|NM_183393,p.T1195M|ENST00000357948,p.T1195M	retained_intron, protein_coding, processed_transcript	uc021wzv.1	nonsynonymous SNV	exon27	c.C3794T	p.T1265M	YNSSMNVICTWLTDRMDLQLHIYQL	YNSSMNVICTWLMDRMDLQLHIYQL	3.0	10.0	-	-	4326_3:62388817-62388817 G>A_YNSSMNVICTWLMDRMDLQLHIYQL
1:46089512-46089512 C>T	1.0	4326	BREAST	-	-	-	-	CCDC17	uc009vxz.3,p.A24T|ENST00000528266,p.A24T|NM_001114938,p.A24T|ENST00000479529,p.A24T|ENST00000445048,p.A24T|ENST00000421127,p.A24T|ENST00000343901,p.A24T|uc010ols.2,p.A24T|NM_001190182,p.A24T|uc010olt.2,p.A24T|ENST00000372044,p.A24T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010olt.2	nonsynonymous SNV	exon1	c.G70A	p.A24T	PCGTCDMVFRSSALLATHTQRFCIG	PCGTCDMVFRSSTLLATHTQRFCIG	4.0	5.0	-	-	4326_1:46089512-46089512 C>T_PCGTCDMVFRSSTLLATHTQRFCIG
19:58153539-58153539 A>G	1.0	4326	BREAST	-	-	-	-	ZNF211	uc002qpr.2,p.E626G|NM_198855,p.E562G|uc010yhb.1,p.E566G|uc010yhe.2,p.E553G|NM_006385,p.E575G|ENST00000541801,p.E553G|NM_001265598,p.E614G|uc010yhd.2,p.E501G|uc031rng.1,p.E627G|ENST00000544273,p.E574G|ENST00000240731,p.E575G|ENST00000420680,p.E566G|ENST00000254182,p.E553G|NM_001265597,p.E627G|uc010yhc.1,p.E574G|NM_001265600,p.E501G|uc002qpq.2,p.E562G|ENST00000299871,p.E627G|ENST00000391703,p.E501G|uc002qpp.2,p.E575G|uc031rnh.1,p.E614G|uc002qpt.2,p.E574G|NM_001265599,p.E553G|ENST00000347302,p.E562G	retained_intron, protein_coding, nonsense_mediated_decay	uc031rnh.1	nonsynonymous SNV	exon4	c.A1841G	p.E614G	SVLIQHQRVHIGEKP	SVLIQHQRVHIGGKP	7.0	1.0	-	-	4326_19:58153539-58153539 A>G_SVLIQHQRVHIGGKP
3:151046649-151046661 AGCCAAAGTATTC>-	0.0	4326	BREAST	-	-	-	-	P2RY13	uc003eyv.2,p.L61fs|NM_176894,p.L61fs|ENST00000325602,p.L61fs	protein_coding	uc003eyv.2	frameshift deletion	exon2	c.183_195del	p.L61fs	ALYTVVFLTGILLNTLALWVFVHIPS	ALYTVVFLTGILLCGCLFTSPAPPPSSSTSKTLWWPT	5.0	2.0	-	-	4326_3:151046649-151046661 AGCCAAAGTATTC>-_ALYTVVFLTGILLCGCLFTSPAPPPSSSTSKTLWWPT
7:6732209-6732209 C>T	1.0	4326	BREAST	-	-	-	-	ZNF12	NM_016265,p.D122N|ENST00000405858,p.D122N|uc003sqt.1,p.D122N	protein_coding, processed_transcript	uc003sqt.1	nonsynonymous SNV	exon5	c.G364A	p.D122N	IEERGNVPGKTFDVETNPVPSRKIA	IEERGNVPGKTFNVETNPVPSRKIA	8.0	9.0	-	-	4326_7:6732209-6732209 C>T_IEERGNVPGKTFNVETNPVPSRKIA
X:133700397-133700397 G>A	1.0	4326	BREAST	-	-	-	-	PLAC1	uc004exp.1,p.P106S|NM_021796,p.P106S|uc022cei.1,p.P106S|ENST00000359237,p.P106S|uc004exo.1,p.P106S	protein_coding, processed_transcript	uc022cei.1	nonsynonymous SNV	exon1	c.C316T	p.P106S	YSTEIHYSSKGTPSKFVIPVSCAAP	YSTEIHYSSKGTSSKFVIPVSCAAP	5.0	7.0	-	-	4326_X:133700397-133700397 G>A_YSTEIHYSSKGTSSKFVIPVSCAAP
2:234716144-234716144 G>C	0.0	4326	BREAST	-	-	-	-	MROH2A	ENST00000389758,p.E710Q|NM_001287395,p.E713Q	retained_intron, protein_coding, processed_transcript	NM_001287395	nonsynonymous SNV	exon20	c.G2137C	p.E713Q	GLEASKVEVLLLELLYKTDYSNDFD	GLEASKVEVLLLQLLYKTDYSNDFD	1.0	4.0	-	-	4326_2:234716144-234716144 G>C_GLEASKVEVLLLQLLYKTDYSNDFD
2:152371407-152371407 T>-	1.0	4326	BREAST	-	-	-	-	NEB	NM_001164508,p.K7647fs|ENST00000397345,p.K7647fs|uc002txu.3,p.K7647fs|uc031rpp.1,p.K7682fs|uc002txt.4,p.K451fs|ENST00000603639,p.K7647fs|ENST00000409198,p.K5946fs|ENST00000172853,p.K5946fs|uc021vrb.1,p.K5946fs|NM_004543,p.K5934fs|ENST00000427231,p.K7647fs|ENST00000413693,p.K2377fs|uc010fnx.3,p.K5934fs|uc021vrd.1,p.K5946fs|NM_001164507,p.K7647fs|uc002txr.3,p.K2412fs|NM_001271208,p.K7682fs|uc021vrc.1,p.K7647fs|ENST00000604864,p.K7647fs	retained_intron, protein_coding, processed_transcript	uc031rpp.1	frameshift deletion	exon159	c.23046delA	p.K7682fs	GKEYRKDYEESIKGRNLTGLEVTPAL	GKEYRKDYEESIKAET	7.0	4.0	-	-	4326_2:152371407-152371407 T>-_GKEYRKDYEESIKAET
6:31743841-31743841 G>C	1.0	4326	BREAST	-	-	-	-	VWA7	NM_025258,p.A138G|uc011dog.2,p.A138G|ENST00000375686,p.A138G|ENST00000375688,p.A138G|ENST00000447450,p.A138G	retained_intron, protein_coding, processed_transcript	uc011dog.2	nonsynonymous SNV	exon3	c.C413G	p.A138G	LHFDAERLGQGRARLVGALRETVVA	LHFDAERLGQGRGRLVGALRETVVA	4.0	7.0	-	-	4326_6:31743841-31743841 G>C_LHFDAERLGQGRGRLVGALRETVVA
19:41630709-41630709 C>A	0.0	4326	BREAST	-	-	-	-	CYP2F1	ENST00000331105,p.D350E|uc002opu.1,p.D350E|NM_000774,p.D350E|ENST00000534009,p.D29E	retained_intron, protein_coding, nonsense_mediated_decay, non_stop_decay	uc002opu.1	nonsynonymous SNV	exon8	c.C1050A	p.D350E	PALKDRAAMPYTDAVIHEVQRFADI	PALKDRAAMPYTEAVIHEVQRFADI	1.0	5.0	-	-	4326_19:41630709-41630709 C>A_PALKDRAAMPYTEAVIHEVQRFADI
8:57354324-57354324 A>C	0.0	4326	BREAST	-	-	-	-	PENK	ENST00000314922,p.M104R|ENST00000451791,p.M104R|uc003xsz.2,p.M104R|NM_001135690,p.M104R|NM_006211,p.M104R|uc003xta.3,p.M104R	retained_intron, protein_coding, processed_transcript	uc003xta.3	nonsynonymous SNV	exon4	c.T311G	p.M104R	ESHLLAKRYGGFMKRYGGFMKKMDE	ESHLLAKRYGGFRKRYGGFMKKMDE	3.0	5.0	-	-	4326_8:57354324-57354324 A>C_ESHLLAKRYGGFRKRYGGFMKKMDE
9:70176851-70176851 A>G	0.0	4326	BREAST	-	rs3000494	-	-	FOXD4L5	ENST00000377420,p.L378P|NM_001126334,p.L378P|uc010moc.3,p.L378P	protein_coding	uc010moc.3	nonsynonymous SNV	exon1	c.T1133C	p.L378P	KPLPLCCKCPPPLLLGQFCSNSSSI	KPLPLCCKCPPPPLLGQFCSNSSSI	4.0	6.0	unscreened	-	4326_9:70176851-70176851 A>G_KPLPLCCKCPPPPLLGQFCSNSSSI
1:109394403-109394403 T>A	0.0	4326	BREAST	-	-	ID=COSM1332348;OCCURENCE=1(large_intestine)	-	AKNAD1	ENST00000369994,p.K295I|ENST00000370001,p.K295I|uc001dwa.4,p.K295I|ENST00000369995,p.K295I|ENST00000472781,p.K295I|ENST00000461774,p.K295I|NM_152763,p.K295I|ENST00000474186,p.K295I	protein_coding, processed_transcript, nonsense_mediated_decay	uc001dwa.4	nonsynonymous SNV	exon2	c.A884T	p.K295I	AKQASFSSKSRDKPTLVQDSLETTP	AKQASFSSKSRDIPTLVQDSLETTP	1.0	8.0	-	-	4326_1:109394403-109394403 T>A_AKQASFSSKSRDIPTLVQDSLETTP
2:120194523-120194523 G>A	0.0	4326	BREAST	0.0005	-	-	-	TMEM37	ENST00000409826,p.R39Q|uc002tly.3,p.R27Q|ENST00000306406,p.R27Q|NM_183240,p.R27Q	protein_coding, processed_transcript	uc002tly.3	nonsynonymous SNV	exon2	c.G80A	p.R27Q	RQPRRSFFESFIRTLIITCVALAVV	RQPRRSFFESFIQTLIITCVALAVV	5.0	7.0	-	-	4326_2:120194523-120194523 G>A_RQPRRSFFESFIQTLIITCVALAVV
4:70455287-70455288 CG>-	0.0	4326	BREAST	-	-	-	-	UGT2A1,UGT2A2	NM_001301233,p.I427fs|NM_001105677,p.I471fs|NM_001252275,p.I462fs|ENST00000457664,p.I471fs|uc010iht.3,p.I418fs|ENST00000514019,p.I628fs|NM_001301239,p.I418fs|NM_006798,p.I462fs|uc010ihs.3,p.I471fs|ENST00000286604,p.I462fs|ENST00000503640,p.I462fs|uc010ihu.3,p.I462fs|uc021xox.1,p.I427fs|uc011caq.2,p.I628fs|uc003hem.4,p.I462fs|ENST00000512704,p.I418fs|NM_001252274,p.I628fs	 protein_coding, processed_transcript,retained_intron	uc021xox.1	frameshift deletion	exon5	c.1281_1282del	p.I427fs	QPVKPLDRAVFWIEFVMRHKGAKHLR	QPVKPLDRAVFWIVCHAPQRSQAPSGCSP	1.0	3.0	-	-	4326_4:70455287-70455288 CG>-_QPVKPLDRAVFWIVCHAPQRSQAPSGCSP
1:186331420-186331420 C>A	1.0	4326	BREAST	-	-	-	1	TPR	uc010pop.2,p.E339D|ENST00000367478,p.E263D|NM_003292,p.E263D|uc001grv.3,p.E263D	retained_intron, protein_coding, processed_transcript	uc010pop.2	nonsynonymous SNV	exon8	c.G1017T	p.E339D	QKHVEDLLTKLKEAKEQQASMEEKF	QKHVEDLLTKLKDAKEQQASMEEKF	10.0	6.0	-	-	4326_1:186331420-186331420 C>A_QKHVEDLLTKLKDAKEQQASMEEKF
19:51021213-51021213 G>C	0.0	4326	BREAST	-	-	-	-	LRRC4B	uc002pss.3,p.T586R|ENST00000599957,p.T586R|NM_001080457,p.T586R|ENST00000389201,p.T586R	protein_coding	uc002pss.3	nonsynonymous SNV	exon3	c.C1757G	p.T586R	TTKIIIGCFVAITFMAAVMLVAFYK	TTKIIIGCFVAIRFMAAVMLVAFYK	4.0	1.0	-	-	4326_19:51021213-51021213 G>C_TTKIIIGCFVAIRFMAAVMLVAFYK
12:111701572-111701572 C>A	0.0	4326	BREAST	-	-	-	-	CUX2	ENST00000261726,p.A77D|uc001tsb.2,p.A132D|uc001tsa.2,p.A77D|NM_015267,p.A77D|ENST00000397643,p.A137D	protein_coding, processed_transcript	uc001tsb.2	nonsynonymous SNV	exon5	c.C395A	p.A132D	APVLKSFQAEVVALSKRSQEAEAAF	APVLKSFQAEVVDLSKRSQEAEAAF	4.0	8.0	-	-	4326_12:111701572-111701572 C>A_APVLKSFQAEVVDLSKRSQEAEAAF
11:134855902-134855902 T>G	0.0	4326	BREAST	-	-	-	-	LOC283177,NONE	ENST00000597621,p.S170R|uc021qsq.1,p.S170R	protein_coding	uc021qsq.1	nonsynonymous SNV	exon1	c.T510G	p.S170R	QPIRGCSGDPACSPSEAAVETQLAG	QPIRGCSGDPACRPSEAAVETQLAG	1.0	6.0	-	-	4326_11:134855902-134855902 T>G_QPIRGCSGDPACRPSEAAVETQLAG
12:123200483-123200483 C>T	0.0	4326	BREAST	-	-	-	-	HCAR3	ENST00000528880,p.V268M|NM_006018,p.V268M|uc001ucy.4,p.V268M	protein_coding	uc001ucy.4	nonsynonymous SNV	exon1	c.G802A	p.V268M	WLLHTSGTQNCEVYRSVDLAFFITL	WLLHTSGTQNCEMYRSVDLAFFITL	4.0	4.0	-	-	4326_12:123200483-123200483 C>T_WLLHTSGTQNCEMYRSVDLAFFITL
1:181453086-181453086 T>A	0.0	4326	BREAST	-	-	-	-	CACNA1E	uc009wxt.3,p.L69Q|ENST00000360108,p.L69Q|NM_001205293,p.L69Q|ENST00000357570,p.L20Q|uc009wxs.3,p.L69Q|ENST00000358338,p.L20Q|NM_001205294,p.L69Q|ENST00000524607,p.L69Q|ENST00000367573,p.L69Q|ENST00000367570,p.L69Q|uc001gow.3,p.L69Q|NM_000721,p.L69Q|ENST00000526775,p.L69Q	retained_intron, protein_coding	uc009wxt.3	nonsynonymous SNV	exon1	c.T206A	p.L69Q	PVRQNCFTVNRSLFIFGEDNIVRKY	PVRQNCFTVNRSQFIFGEDNIVRKY	3.0	8.0	-	-	4326_1:181453086-181453086 T>A_PVRQNCFTVNRSQFIFGEDNIVRKY
4:70455289-70455289 A>G	0.0	4326	BREAST	-	-	-	-	UGT2A1,UGT2A2	uc003hem.4,p.I462T|uc010iht.3,p.I418T|uc011caq.2,p.I628T|uc021xox.1,p.I427T|uc010ihu.3,p.I462T|NM_001252275,p.I462T|ENST00000514019,p.I628T|NM_001105677,p.I471T|NM_001301233,p.I427T|ENST00000503640,p.I462T|uc010ihs.3,p.I471T|ENST00000457664,p.I471T|ENST00000286604,p.I462T|NM_001252274,p.I628T|NM_001301239,p.I418T|ENST00000512704,p.I418T|NM_006798,p.I462T	 protein_coding, processed_transcript,retained_intron	uc021xox.1	nonsynonymous SNV	exon5	c.T1280C	p.I427T	QPVKPLDRAVFWIEFVMRHKGAKHL	QPVKPLDRAVFWTEFVMRHKGAKHL	1.0	3.0	-	-	4326_4:70455289-70455289 A>G_QPVKPLDRAVFWTEFVMRHKGAKHL
8:72156896-72156896 C>T	0.0	4326	BREAST	0.0005	-	ID=COSM1458102;OCCURENCE=1(large_intestine)	-	EYA1	ENST00000340726,p.R361Q|uc003xyu.3,p.R361Q|NM_172058,p.R361Q|uc011lfe.2,p.R355Q|uc003xyv.3,p.R239Q|NM_001288575,p.R239Q|NM_001288574,p.R355Q|ENST00000388743,p.R360Q|uc010lzf.3,p.R288Q|ENST00000388740,p.R328Q|ENST00000303824,p.R355Q|ENST00000388741,p.R327Q|uc003xyt.4,p.R328Q|NM_172060,p.R328Q|NM_000503,p.R361Q|uc003xys.4,p.R361Q|ENST00000388742,p.R361Q	retained_intron, protein_coding, nonsense_mediated_decay	uc011lfe.2	nonsynonymous SNV	exon12	c.G1064A	p.R355Q	GRDPPTSVSLGLRMEEMIFNLADTH	GRDPPTSVSLGLQMEEMIFNLADTH	3.0	9.0	-	-	4326_8:72156896-72156896 C>T_GRDPPTSVSLGLQMEEMIFNLADTH
3:74350924-74350924 C>T	0.0	4326	BREAST	-	-	-	-	CNTN3	NM_020872,p.D607N|uc003dpm.1,p.D607N|ENST00000263665,p.D607N	protein_coding, processed_transcript	uc003dpm.1	nonsynonymous SNV	exon14	c.G1819A	p.D607N	RGSPGPPENVKVDEITDTTAQLSWK	RGSPGPPENVKVNEITDTTAQLSWK	4.0	10.0	-	-	4326_3:74350924-74350924 C>T_RGSPGPPENVKVNEITDTTAQLSWK
1:12921600-12921600 C>T	0.0	4326	BREAST	-	rs2982215	-	-	PRAMEF2	ENST00000240189,p.P464L|uc001aum.1,p.P464L|NM_023014,p.P464L	protein_coding	uc001aum.1	nonsynonymous SNV	exon4	c.C1391T	p.P464L	IGPTPCPSCGSSPSEELELHLCC	IGPTPCPSCGSSLSEELELHLCC	1.0	6.0	-	-	4326_1:12921600-12921600 C>T_IGPTPCPSCGSSLSEELELHLCC
6:43168421-43168421 G>C	1.0	4326	BREAST	-	-	-	-	CUL9	uc010jyk.3,p.E318Q|ENST00000354495,p.E1056Q|uc003ouk.3,p.E1166Q|uc003oul.3,p.E1166Q|ENST00000252050,p.E1166Q|ENST00000372647,p.E1166Q|NM_015089,p.E1166Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jyk.3	nonsynonymous SNV	exon15	c.G952C	p.E318Q	RHLCQGSSVEVKEDKCWEKVEVSSN	RHLCQGSSVEVKQDKCWEKVEVSSN	7.0	2.0	-	-	4326_6:43168421-43168421 G>C_RHLCQGSSVEVKQDKCWEKVEVSSN
7:27237903-27237903 G>T	0.0	4326	BREAST	-	-	-	1	HOXA13	ENST00000222753,p.L361I|uc003szb.1,p.L361I|NM_000522,p.L361I	protein_coding, processed_transcript	uc003szb.1	nonsynonymous SNV	exon2	c.C1081A	p.L361I	KDKRRRISATTNLSERQVTIWFQNR	KDKRRRISATTNISERQVTIWFQNR	1.0	6.0	-	-	4326_7:27237903-27237903 G>T_KDKRRRISATTNISERQVTIWFQNR
7:88963897-88963897 C>T	0.0	4326	BREAST	-	-	ID=COSM1092764;OCCURENCE=1(endometrium)	-	ZNF804B	uc011khi.2,p.P534L|ENST00000333190,p.P534L|NM_181646,p.P534L	protein_coding	uc011khi.2	nonsynonymous SNV	exon4	c.C1601T	p.P534L	DQQKLIQEDYQYPKPKTMIANPDWE	DQQKLIQEDYQYLKPKTMIANPDWE	2.0	1.0	-	-	4326_7:88963897-88963897 C>T_DQQKLIQEDYQYLKPKTMIANPDWE
12:7280889-7280889 ->A	1.0	4326	BREAST	-	-	-	-	RBP5	ENST00000266560,p.V67fs|ENST00000542370,p.V67fs|NM_031491,p.V67fs|uc001qsq.3,p.V67fs	retained_intron, protein_coding, nonsense_mediated_decay	uc001qsq.3	frameshift insertion	exon2	c.198dupT	p.V67fs	LSTFRNYTVQFDVGVEFEEDLRSVD	LSTFRNYTVQFDCGSGV	6.0	7.0	-	-	4326_12:7280889-7280889 ->A_LSTFRNYTVQFDCGSGV
1:180910201-180910201 C>T	0.0	4326	BREAST	-	-	-	-	KIAA1614	ENST00000367587,p.T601I|uc001gom.1,p.T71I|NM_020950,p.T980I|uc001gok.2,p.T980I|uc001gol.1,p.T601I|ENST00000367588,p.T980I	protein_coding, processed_transcript	uc001gom.1	nonsynonymous SNV	exon3	c.C212T	p.T71I	GHVLSRASAGAGTGPGSPSAAPLDQ	GHVLSRASAGAGIGPGSPSAAPLDQ	3.0	5.0	-	-	4326_1:180910201-180910201 C>T_GHVLSRASAGAGIGPGSPSAAPLDQ
5:175533088-175533088 G>C	0.0	4326	BREAST	-	rs4613734	-	-	FAM153B	uc031smc.1,p.V263L|ENST00000508296,p.V186L|NM_001265615,p.V186L|ENST00000515817,p.V186L|ENST00000253490,p.V263L|ENST00000512862,p.V54L|uc031sma.1,p.V54L|uc031smd.1,p.V52L|ENST00000510151,p.V186L|uc031smb.1,p.V186L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031smd.1	nonsynonymous SNV	exon5	c.G154C	p.V52L	PQRGDLEDLEEHVPGQTVSEEATGV	PQRGDLEDLEEHLPGQTVSEEATGV	5.0	6.0	-	-	4326_5:175533088-175533088 G>C_PQRGDLEDLEEHLPGQTVSEEATGV
10:1405554-1405554 G>A	0.0	4326	BREAST	-	-	-	-	ADARB2	uc009xhq.3,p.A249V|ENST00000381312,p.A249V|NM_018702,p.A249V	protein_coding, processed_transcript	uc009xhq.3	nonsynonymous SNV	exon3	c.C746T	p.A249V	AGGRPGDAALLSAAYGRRRLLCRAL	AGGRPGDAALLSVAYGRRRLLCRAL	3.0	2.0	-	-	4326_10:1405554-1405554 G>A_AGGRPGDAALLSVAYGRRRLLCRAL
7:88965273-88965273 C>G	0.0	4326	BREAST	-	-	-	-	ZNF804B	NM_181646,p.Q993E|ENST00000333190,p.Q993E|uc011khi.2,p.Q993E	protein_coding	uc011khi.2	nonsynonymous SNV	exon4	c.C2977G	p.Q993E	EKIQYASESRNDQDSAIPRTTEKDK	EKIQYASESRNDEDSAIPRTTEKDK	2.0	9.0	-	-	4326_7:88965273-88965273 C>G_EKIQYASESRNDEDSAIPRTTEKDK
21:14982694-14982694 C>A	0.0	4326	BREAST	-	-	-	-	POTED	NM_174981,p.H49N|uc002yjb.1,p.H49N|ENST00000299443,p.H49N	protein_coding	uc002yjb.1	nonsynonymous SNV	exon1	c.C145A	p.H49N	GSGKSNMGTSGDHDDSFMKMLRSKM	GSGKSNMGTSGDNDDSFMKMLRSKM	1.0	9.0	-	-	4326_21:14982694-14982694 C>A_GSGKSNMGTSGDNDDSFMKMLRSKM
20:61288250-61288252 CTA>-	0.0	4326	BREAST	-	-	-	-	SLCO4A1	ENST00000370507,p.148_149del|ENST00000497209,p.148_149del|NM_016354,p.148_149del|ENST00000217159,p.148_149del|uc002ydb.1,p.148_149del	protein_coding, processed_transcript, nonsense_mediated_decay	uc002ydb.1	nonframeshift deletion	exon2	c.444_446del	p.148_149del	DLHSYQSGLIASSYDIAACLCLTFVS	DLHSYQSGLIASSDIAACLCLTFVS	6.0	4.0	-	-	4326_20:61288250-61288252 CTA>-_DLHSYQSGLIASSDIAACLCLTFVS
11:60468388-60468388 C>G	0.0	4326	BREAST	-	-	-	-	MS4A8	uc001npv.3,p.P19A|ENST00000529752,p.P19A|ENST00000532816,p.P19A|ENST00000300226,p.P19A|uc009yne.1,p.P19A|NM_031457,p.P19A	retained_intron, protein_coding, nonsense_mediated_decay	uc009yne.1	nonsynonymous SNV	exon2	c.C55G	p.P19A	AVPVANSVLVVAPHNGYPVTPGIMS	AVPVANSVLVVAAHNGYPVTPGIMS	1.0	8.0	-	-	4326_11:60468388-60468388 C>G_AVPVANSVLVVAAHNGYPVTPGIMS
12:11214632-11214632 A>-	1.0	4326	BREAST	0.01	rs201847607	ID=COSM430335;OCCURENCE=1(breast)	-	TAS2R46	NM_176887,p.W88fs|ENST00000533467,p.W88fs|uc001qzp.1,p.W88fs	protein_coding	uc001qzp.1	frameshift deletion	exon1	c.262delT	p.W88fs	NSIEVRITAYNVWAVINHFSNWLATS	NSIEVRITAYNVGQ	6.0	8.0	-	-	4326_12:11214632-11214632 A>-_NSIEVRITAYNVGQ
1:248569312-248569312 A>T	0.0	4326	BREAST	-	-	-	-	OR2T1	NM_030904,p.Y6F|ENST00000366474,p.Y6F|uc010pzm.2,p.Y6F	protein_coding	uc010pzm.2	nonsynonymous SNV	exon1	c.A17T	p.Y6F	MWQEYYFLNVFFPLLKVC	MWQEYFFLNVFFPLLKVC	1.0	2.0	-	-	4326_1:248569312-248569312 A>T_MWQEYFFLNVFFPLLKVC
11:116707116-116707116 A>G	0.0	4326	BREAST	-	-	-	-	APOA1	uc001ppv.1,p.L71P|ENST00000236850,p.L71P|ENST00000359492,p.L71P|ENST00000375323,p.L71P|NM_000039,p.L71P|ENST00000375320,p.L71P	protein_coding	uc001ppv.1	nonsynonymous SNV	exon4	c.T212C	p.L71P	GSALGKQLNLKLLDNWDSVTSTFSK	GSALGKQLNLKLPDNWDSVTSTFSK	3.0	7.0	-	-	4326_11:116707116-116707116 A>G_GSALGKQLNLKLPDNWDSVTSTFSK
11:116707116-116707116 A>G	0.0	4326	BREAST	-	-	-	-	APOA1	ENST00000375329,p.L49P	protein_coding	ENST00000375329	nonsynonymous SNV	exon2	c.T146C	p.L49P	DLGRALPDGLKLLDNWDSVTSTFSK	DLGRALPDGLKLPDNWDSVTSTFSK	3.0	7.0	unscreened	-	4326_11:116707116-116707116 A>G_DLGRALPDGLKLPDNWDSVTSTFSK
17:9765348-9765348 A>C	0.0	4326	BREAST	-	-	-	-	GLP2R	NM_004246,p.T333P|ENST00000574745,p.T153P|uc002gmd.1,p.T333P|ENST00000262441,p.T333P	protein_coding, nonsense_mediated_decay	uc002gmd.1	nonsynonymous SNV	exon9	c.A997C	p.T333P	ARAHLENTGCWTTNGNKKIWWIIRG	ARAHLENTGCWTPNGNKKIWWIIRG	3.0	2.0	-	-	4326_17:9765348-9765348 A>C_ARAHLENTGCWTPNGNKKIWWIIRG
14:19566033-19566033 C>G	0.0	4326	BREAST	-	-	-	-	POTEG	NM_001005356,p.D359E|ENST00000547889,p.D359E|uc001vuz.1,p.D359E|ENST00000409832,p.D359E	protein_coding, nonsense_mediated_decay	uc001vuz.1	nonsynonymous SNV	exon6	c.C1077G	p.D359E	SSHHNVICQLLSDYKEKQMLKVSSE	SSHHNVICQLLSEYKEKQMLKVSSE	4.0	3.0	-	-	4326_14:19566033-19566033 C>G_SSHHNVICQLLSEYKEKQMLKVSSE
17:76510917-76510917 C>T	1.0	4326	BREAST	-	-	-	-	DNAH17	NM_173628,p.S1351N|uc010dhp.2,p.S1351N|ENST00000585328,p.S1348N|ENST00000389840,p.S1347N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dhp.2	nonsynonymous SNV	exon26	c.G4052A	p.S1351N	TVKNVITSLRAVSELQNPAIRERHW	TVKNVITSLRAVNELQNPAIRERHW	4.0	3.0	-	-	4326_17:76510917-76510917 C>T_TVKNVITSLRAVNELQNPAIRERHW
18:34320697-34320697 C>G	0.0	4326	BREAST	-	-	-	-	FHOD3	uc002kzt.1,p.L1027V|NM_001281740,p.L1219V|uc021uiv.1,p.L1219V|uc010dmz.1,p.L759V|uc010dnb.1,p.L23V|NM_025135,p.L1044V|NM_001281739,p.L1027V|ENST00000590592,p.L1219V|ENST00000445677,p.L1006V|ENST00000257209,p.L1044V|ENST00000591635,p.L240V|uc002kzs.1,p.L1044V|ENST00000359247,p.L1027V|ENST00000592128,p.L23V	retained_intron, protein_coding, processed_transcript	uc021uiv.1	nonsynonymous SNV	exon21	c.C3655G	p.L1219V	IQEAQLANPEIPLGSAEQFLLTLSS	IQEAQLANPEIPVGSAEQFLLTLSS	5.0	3.0	-	-	4326_18:34320697-34320697 C>G_IQEAQLANPEIPVGSAEQFLLTLSS
19:50832107-50832107 C>G	0.0	4326	BREAST	-	-	-	-	KCNC3	NM_004977,p.G78A|ENST00000376959,p.G78A|ENST00000477616,p.G78A|uc002pru.1,p.G78A	protein_coding	uc002pru.1	nonsynonymous SNV	exon1	c.G233C	p.G78A	AEPCPGLPAAAMGRHGGGGGDSGKI	AEPCPGLPAAAMARHGGGGGDSGKI	6.0	3.0	-	-	4326_19:50832107-50832107 C>G_AEPCPGLPAAAMARHGGGGGDSGKI
12:109717570-109717570 G>A	0.0	4326	BREAST	-	-	-	-	FOXN4	uc009zvg.3,p.A284V|uc001tof.4,p.A307V|ENST00000355216,p.A307V|NM_213596,p.A487V|uc001toe.4,p.A487V|ENST00000299162,p.A487V	protein_coding, processed_transcript, nonsense_mediated_decay	uc009zvg.3	nonsynonymous SNV	exon7	c.C851T	p.A284V	SFPDLQVTGLYTAYSTPDSVAASGT	SFPDLQVTGLYTVYSTPDSVAASGT	3.0	4.0	-	-	4326_12:109717570-109717570 G>A_SFPDLQVTGLYTVYSTPDSVAASGT
7:100357385-100357385 C>G	0.0	4326	BREAST	-	-	-	-	ZAN	uc003uwj.3,p.Q1205E|ENST00000538115,p.Q1205E|uc003uwk.3,p.Q1205E|ENST00000546292,p.Q1205E|ENST00000542585,p.Q1205E	protein_coding, polymorphic_pseudogene	uc003uwk.3	nonsynonymous SNV	exon18	c.C3613G	p.Q1205E	FFRVTAKNEEQGQEGVSCLSKVYVT	FFRVTAKNEEQGEEGVSCLSKVYVT	2.0	7.0	-	-	4326_7:100357385-100357385 C>G_FFRVTAKNEEQGEEGVSCLSKVYVT
19:8188736-8188736 G>T	0.0	4326	BREAST	-	-	-	-	FBN3	ENST00000601739,p.A963D|ENST00000270509,p.A963D|ENST00000600128,p.A963D|NM_032447,p.A963D|uc002mjf.3,p.A963D	retained_intron, protein_coding	uc002mjf.3	nonsynonymous SNV	exon22	c.C2888A	p.A963D	CEACPDPESLEFASLCPRGLGFASR	CEACPDPESLEFDSLCPRGLGFASR	4.0	6.0	-	-	4326_19:8188736-8188736 G>T_CEACPDPESLEFDSLCPRGLGFASR
1:237875123-237875123 T>G	0.0	4326	BREAST	-	-	-	-	RYR2	NM_001035,p.S3437A|uc010pxz.1,p.S392A|ENST00000366574,p.S3437A|ENST00000542537,p.S3421A|ENST00000360064,p.S3435A|uc001hyl.1,p.S3437A	protein_coding, processed_transcript	uc010pxz.1	nonsynonymous SNV	exon10	c.T1174G	p.S392A	INNMSFLITDTKSKMSKAAVSDQER	INNMSFLITDTKAKMSKAAVSDQER	3.0	5.0	-	-	4326_1:237875123-237875123 T>G_INNMSFLITDTKAKMSKAAVSDQER
16:13328967-13328967 C>A	0.0	4326	BREAST	-	-	-	-	SHISA9	uc010uyy.2,p.P326T|ENST00000558583,p.P367T|NM_001145204,p.P326T|ENST00000424107,p.P326T	protein_coding, processed_transcript	uc010uyy.2	nonsynonymous SNV	exon5	c.C976A	p.P326T	AELAAKGNLPLHPVRVEDEPRAFSP	AELAAKGNLPLHTVRVEDEPRAFSP	5.0	4.0	-	-	4326_16:13328967-13328967 C>A_AELAAKGNLPLHTVRVEDEPRAFSP
20:5897479-5897479 G>A	0.0	4326	BREAST	-	-	-	-	CHGB	uc002wmg.3,p.R35H|ENST00000455042,p.R15H|NM_001819,p.R35H|ENST00000378961,p.R35H	protein_coding, processed_transcript	uc002wmg.3	nonsynonymous SNV	exon3	c.G104A	p.R35H	VDNRNHNEGMVTRCIIEVLSNALSK	VDNRNHNEGMVTHCIIEVLSNALSK	2.0	5.0	-	-	4326_20:5897479-5897479 G>A_VDNRNHNEGMVTHCIIEVLSNALSK
X:88008772-88008772 G>A	0.0	4326	BREAST	-	-	-	-	CPXCR1	uc022bzq.1,p.M119I|uc004efd.4,p.M119I|NM_033048,p.M119I|ENST00000276127,p.M119I|NM_001184771,p.M119I|ENST00000373111,p.M119I|uc004efc.4,p.M119I	protein_coding	uc022bzq.1	nonsynonymous SNV	exon1	c.G357A	p.M119I	NDRSRSHSGKVEMKANNFPINHKTR	NDRSRSHSGKVEIKANNFPINHKTR	1.0	4.0	-	-	4326_X:88008772-88008772 G>A_NDRSRSHSGKVEIKANNFPINHKTR
5:140347349-140347349 T>C	0.0	4326	BREAST	-	-	-	-	PCDHAC2	ENST00000289269,p.I333T|NM_031883,p.I333T|NM_018899,p.I333T|uc003lii.3,p.I333T|uc011dag.2,p.I333T	protein_coding	uc011dag.2	nonsynonymous SNV	exon1	c.T998C	p.I333T	GGLDYEEASSYQIYVQATDRGPVPM	GGLDYEEASSYQTYVQATDRGPVPM	3.0	5.0	-	-	4326_5:140347349-140347349 T>C_GGLDYEEASSYQTYVQATDRGPVPM
1:201179380-201179380 T>G	0.0	4326	BREAST	-	-	-	-	IGFN1	NM_001164586,p.W1787G|ENST00000335211,p.W1787G|uc001gwc.3,p.W1787G	retained_intron, protein_coding, nonsense_mediated_decay	uc001gwc.3	nonsynonymous SNV	exon12	c.T5359G	p.W1787G	GSMDEAGYRKDLWAPEGIGSGSKAG	GSMDEAGYRKDLGAPEGIGSGSKAG	2.0	5.0	-	-	4326_1:201179380-201179380 T>G_GSMDEAGYRKDLGAPEGIGSGSKAG
19:30020811-30020811 G>A	0.0	4326	BREAST	-	-	ID=COSM1392379;OCCURENCE=1(large_intestine)	-	VSTM2B	ENST00000335523,p.R128H|uc010xrl.1,p.R128H|NM_001146339,p.R128H	protein_coding	uc010xrl.1	nonsynonymous SNV	exon4	c.G383A	p.R128H	AVRLQDEGVYECRVSDYSDDDTQEH	AVRLQDEGVYECHVSDYSDDDTQEH	1.0	2.0	-	-	4326_19:30020811-30020811 G>A_AVRLQDEGVYECHVSDYSDDDTQEH
13:43566247-43566247 G>A	1.0	4326	BREAST	-	-	-	-	EPSTI1	ENST00000313640,p.R19C|NM_001002264,p.R19C|uc001uyx.2,p.R19C|NM_033255,p.R19C|ENST00000313624,p.R19C|ENST00000398762,p.R19C|ENST00000538562,p.R19C|uc001uyw.2,p.R19C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001uyx.2	nonsynonymous SNV	exon1	c.C55T	p.R19C	VVNSGLGASPASRPTRDPQDPSGRQ	VVNSGLGASPASCPTRDPQDPSGRQ	9.0	2.0	-	-	4326_13:43566247-43566247 G>A_VVNSGLGASPASCPTRDPQDPSGRQ
3:196050847-196050847 C>T	1.0	4326	BREAST	-	-	ID=COSM1043021;OCCURENCE=1(endometrium)	-	TM4SF19	NM_001204897,p.R156H|ENST00000446879,p.R156H	protein_coding, nonsense_mediated_decay	NM_001204897	nonsynonymous SNV	exon5	c.G467A	p.R156H	FKDLHRIICMTVRSGTPSAWSPLQL	FKDLHRIICMTVHSGTPSAWSPLQL	5.0	6.0	-	-	4326_3:196050847-196050847 C>T_FKDLHRIICMTVHSGTPSAWSPLQL
7:88424057-88424057 T>G	0.0	4326	BREAST	-	-	-	-	C7orf62	NM_152706,p.D67A|uc003ujv.3,p.D67A|ENST00000297203,p.D67A|uc022ahc.1,p.D67A	protein_coding	uc022ahc.1	nonsynonymous SNV	exon1	c.A200C	p.D67A	KIQANVERKDVADYYEQMFQSVLKH	KIQANVERKDVAAYYEQMFQSVLKH	1.0	1.0	-	-	4326_7:88424057-88424057 T>G_KIQANVERKDVAAYYEQMFQSVLKH
8:24771520-24771520 G>A	0.0	4326	BREAST	-	-	-	-	NEFM	uc011lac.1,p.E72K|uc003xed.4,p.E72K|ENST00000437366,p.E72K|ENST00000221166,p.E72K|ENST00000518131,p.E72K|NM_005382,p.E72K	protein_coding, processed_transcript	uc011lac.1	nonsynonymous SNV	exon1	c.G214A	p.E72K	RLAYSSAMLSSAESSLDFSQSSSLL	RLAYSSAMLSSAKSSLDFSQSSSLL	3.0	4.0	-	-	4326_8:24771520-24771520 G>A_RLAYSSAMLSSAKSSLDFSQSSSLL
6:30917807-30917807 C>A	0.0	4326	BREAST	-	-	-	-	DPCR1	ENST00000462446,p.H522Q|NM_080870,p.H522Q|uc003nsg.2,p.H522Q	protein_coding	uc003nsg.2	nonsynonymous SNV	exon2	c.C1566A	p.H522Q	EKTTSSSAEPTEHGERTPLANENTT	EKTTSSSAEPTEQGERTPLANENTT	3.0	1.0	-	-	4326_6:30917807-30917807 C>A_EKTTSSSAEPTEQGERTPLANENTT
10:61005340-61005340 G>T	0.0	4326	BREAST	-	-	-	-	PHYHIPL	uc001jkl.4,p.V328F|uc001jkm.4,p.V348F|ENST00000373880,p.V374F|uc001jkk.4,p.V374F|NM_032439,p.V374F|ENST00000373878,p.V348F|NM_001143774,p.V348F	protein_coding, processed_transcript, nonsense_mediated_decay	uc001jkm.4	nonsynonymous SNV	exon5	c.G1042T	p.V348F	KKDPSCKTCNISVGR	KKDPSCKTCNISFGR	3.0	2.0	-	-	4326_10:61005340-61005340 G>T_KKDPSCKTCNISFGR
22:31534293-31534293 C>G	0.0	4326	BREAST	-	-	-	-	PLA2G3	uc003aka.3,p.E251Q|ENST00000215885,p.E251Q|NM_015715,p.E251Q	protein_coding	uc003aka.3	nonsynonymous SNV	exon3	c.G751C	p.E251Q	VLEIPCFVLEEQEACVAWYWWGGCR	VLEIPCFVLEEQQACVAWYWWGGCR	1.0	1.0	-	-	4326_22:31534293-31534293 C>G_VLEIPCFVLEEQQACVAWYWWGGCR
5:122425854-122425854 C>T	0.0	4326	BREAST	-	-	-	-	PRDM6	uc003kti.3,p.P49S|ENST00000407847,p.P49S|NM_001136239,p.P49S	protein_coding, processed_transcript, nonsense_mediated_decay	uc003kti.3	nonsynonymous SNV	exon2	c.C145T	p.P49S	GSGAAGLLSAPQPLQPPPPPPPPER	GSGAAGLLSAPQSLQPPPPPPPPER	4.0	4.0	-	-	4326_5:122425854-122425854 C>T_GSGAAGLLSAPQSLQPPPPPPPPER
7:100637242-100637242 G>A	0.0	4326	BREAST	-	-	ID=COSM3831379,COSM3831378;OCCURENCE=1(breast)	-	MUC12	ENST00000536621,p.R1133H|uc003uxo.3,p.R1133H|NM_001164462,p.R1133H|ENST00000379442,p.R1276H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003uxo.3	nonsynonymous SNV	exon2	c.G3398A	p.R1133H	TSLGVGEESTTSRSQPGSTHSTVSP	TSLGVGEESTTSHSQPGSTHSTVSP	4.0	3.0	unscreened	-	4326_7:100637242-100637242 G>A_TSLGVGEESTTSHSQPGSTHSTVSP
10:55568786-55568786 T>C	0.0	4326	BREAST	-	-	-	-	PCDH15	uc010qht.2,p.K1673R|ENST00000395442,p.K540R|ENST00000395446,p.K871R|ENST00000395440,p.K609R|ENST00000395445,p.K1675R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qht.2	nonsynonymous SNV	exon35	c.A5018G	p.K1673R	RRRPMVEEVKEVKGRKEEPQEEQKE	RRRPMVEEVKEVRGRKEEPQEEQKE	4.0	5.0	-	-	4326_10:55568786-55568786 T>C_RRRPMVEEVKEVRGRKEEPQEEQKE
15:54557693-54557693 T>A	0.0	4326	BREAST	-	-	-	-	UNC13C	uc002acl.3,p.F103I|uc021sms.1,p.F1273I|NM_001080534,p.F1273I|ENST00000537900,p.F1271I|ENST00000260323,p.F1273I|ENST00000545554,p.F1273I	retained_intron, protein_coding	uc021sms.1	nonsynonymous SNV	exon9	c.T3817A	p.F1273I	GNLNPVWDEKFYFECHNSTDRIKVR	GNLNPVWDEKFYIECHNSTDRIKVR	3.0	3.0	-	-	4326_15:54557693-54557693 T>A_GNLNPVWDEKFYIECHNSTDRIKVR
7:142460314-142460314 G>A	0.0	4326	BREAST	-	-	-	-	PRSS1	ENST00000486171,p.A177T|ENST00000492062,p.A113T|uc003wak.2,p.A163T|NM_002769,p.A163T|ENST00000311737,p.A163T|uc003wam.2,p.A103T	retained_intron, protein_coding	uc003wam.2	nonsynonymous SNV	exon2	c.G307A	p.A103T	GADYPDELQCLDAPVLSQAKCEASY	GADYPDELQCLDTPVLSQAKCEASY	3.0	1.0	-	-	4326_7:142460314-142460314 G>A_GADYPDELQCLDTPVLSQAKCEASY
15:54557693-54557693 T>A	0.0	4326	BREAST	-	-	-	-	UNC13C	uc021smr.1,p.F1271I	retained_intron, protein_coding	uc021smr.1	nonsynonymous SNV	exon8	c.T3811A	p.F1271I	IFGNLNPVWDEKFYFECHNSTDRIK	IFGNLNPVWDEKIYFECHNSTDRIK	3.0	3.0	-	-	4326_15:54557693-54557693 T>A_IFGNLNPVWDEKIYFECHNSTDRIK
11:59620730-59620730 T>G	0.0	4326	BREAST	-	-	-	-	TCN1	ENST00000257264,p.N396H|NM_001062,p.N396H|uc001noj.2,p.N396H	retained_intron, protein_coding, processed_transcript	uc001noj.2	nonsynonymous SNV	exon8	c.A1186C	p.N396H	PYITCIQGLCANNNDRTYWELLSGG	PYITCIQGLCANHNDRTYWELLSGG	5.0	3.0	-	-	4326_11:59620730-59620730 T>G_PYITCIQGLCANHNDRTYWELLSGG
12:21531243-21531243 T>A	0.0	4326	BREAST	-	-	-	-	IAPP	ENST00000537593,p.H51Q|NM_000415,p.H51Q|uc001rev.3,p.H51Q|ENST00000240652,p.H51Q|ENST00000539393,p.H51Q	protein_coding	uc001rev.3	nonsynonymous SNV	exon3	c.T153A	p.H51Q	TCATQRLANFLVHSSNNFGAILSST	TCATQRLANFLVQSSNNFGAILSST	1.0	3.0	-	-	4326_12:21531243-21531243 T>A_TCATQRLANFLVQSSNNFGAILSST
1:248569297-248569297 T>A	0.0	4326	BREAST	-	-	-	-	OR2T1	NM_030904,p.M1K|ENST00000366474,p.M1K|uc010pzm.2,p.M1K	protein_coding	uc010pzm.2	nonsynonymous SNV	exon1	c.T2A	p.M1K	MWQEYYFLNVFFP	KWQEYYFLNVFFP	1.0	2.0	unscreened	-	4326_1:248569297-248569297 T>A_KWQEYYFLNVFFP
5:70308634-70308634 C>-	0.0	4326	BREAST	-	-	-	-	NAIP	uc003kar.1,p.E37fs|ENST00000508426,p.E37fs|ENST00000194097,p.E37fs|ENST00000519014,p.E37fs|NM_004536,p.E37fs|ENST00000517649,p.E37fs|uc011crs.1,p.E37fs	retained_intron, protein_coding, nonsense_mediated_decay	uc011crs.1	frameshift deletion	exon2	c.109delG	p.E37fs	ALLGLDAVQLAKELEEEEQKERAKMQ	ALLGLDAVQLAKN	9.0	2.0	unscreened	-	4326_5:70308634-70308634 C>-_ALLGLDAVQLAKN
22:26879947-26879967 GAGGCGGCGCCCCGGGGGAGA>-	1.0	4326	BREAST	-	-	-	-	SRRD	uc010gve.3,p.31_37del|NM_001013694,p.31_37del|ENST00000215917,p.31_37del	retained_intron, protein_coding	uc010gve.3	nonframeshift deletion	exon1	c.91_111del	p.31_37del	KRRSAARRPRRREAAPRGREAAPRGR	KRRSAARRPRRREAAPRGREAAPRG	7.0	7.0	unscreened	-	4326_22:26879947-26879967 GAGGCGGCGCCCCGGGGGAGA>-_KRRSAARRPRRREAAPRGREAAPRG
6:138645213-138645214 CC>-	1.0	4326	BREAST	-	-	-	-	KIAA1244	ENST00000251691,p.C1641fs|uc003qhu.3,p.C1641fs|NM_020340,p.C1641fs	protein_coding	uc003qhu.3	frameshift deletion	exon31	c.4923_4924del	p.C1641fs	FHSGTESFSGEGCQVRVAAPSSSPSA	FHSGTESFSGEG	6.0	4.0	-	-	4326_6:138645213-138645214 CC>-_FHSGTESFSGEG
9:20414311-20414313 CTG>-	1.0	4326	BREAST	-	-	-	1	MLLT3	uc011lne.1,p.145_146del|ENST00000380338,p.177_178del|ENST00000429426,p.174_175del|NM_001286691,p.174_175del|uc011lnf.1,p.174_175del|uc003zoe.2,p.177_178del|NM_004529,p.177_178del	protein_coding, processed_transcript	uc011lnf.1	nonframeshift deletion	exon5	c.522_524del	p.174_175del	SSSSSSSSSSSSSSSSSSSSSSSSSS	SSSSSSSSSSSSSSSSSSSSSSSSS	8.0	1.0	unscreened	-	4326_9:20414311-20414313 CTG>-_SSSSSSSSSSSSSSSSSSSSSSSSS
16:69177182-69177182 A>G	1.0	4329	COLON	-	-	-	-	CIRH1A	ENST00000352319,p.I210V|uc010cfi.3,p.I127V|NM_032830,p.I210V|ENST00000567460,p.I127V|uc010cfj.1,p.I29V|uc002ewr.2,p.I210V|uc002ewt.4,p.I127V|uc002ews.4,p.I210V|ENST00000566227,p.I162V|ENST00000314423,p.I210V|ENST00000563094,p.I210V|ENST00000562237,p.I224V	retained_intron, protein_coding, processed_transcript	uc010cfj.1	nonsynonymous SNV	exon1	c.A85G	p.I29V	VWGVAFLSDGTIISVDSAGKVQFWD	VWGVAFLSDGTIVSVDSAGKVQFWD	10.0	7.0	-	-	4329_16:69177182-69177182 A>G_VWGVAFLSDGTIVSVDSAGKVQFWD
4:1389054-1389054 ->CA	1.0	4329	COLON	-	-	ID=COSM308650;OCCURENCE=2(large_intestine),1(lung)	-	CRIPAK	NM_175918,p.L252fs|ENST00000324803,p.L252fs|uc003gdf.2,p.L252fs	protein_coding	uc003gdf.2	frameshift insertion	exon1	c.755_756insCA	p.L252fs	ACSHVPMWSARLLTCRCGVPACSHV	ACSHVPMWSARLLTRADVECPPAHTCPCGVPACSRADVGCPPAHMCRCGVPACSHVPMWSARLLTRADVECPPAHVPIWSARLLTRAIVECPPAHTHADVECPPAHTCPCGVPACSHVPMWSARLLTHVPMWSARLLTRAHVECLPAHTRAHVECPPAHTKPWHGGSVGFLSCRPSQTLLPYILLMVAF	9.0	5.0	unscreened	-	4329_4:1389054-1389054 ->CA_ACSHVPMWSARLLTRADVECPPAHTCPCGVPACSRADVGCPPAHMCRCGVPACSHVPMWSARLLTRADVECPPAHVPIWSARLLTRAIVECPPAHTHADVECPPAHTCPCGVPACSHVPMWSARLLTHVPMWSARLLTRAHVECLPAHTRAHVECPPAHTKPWHGGSVGFLSCRPSQTLLPYILLMVAF
7:149558208-149558208 A>T	1.0	4329	COLON	-	-	-	-	ZNF862	NM_001099220,p.K653N|ENST00000223210,p.K653N|uc010lpn.3,p.K653N	retained_intron, protein_coding, processed_transcript	uc010lpn.3	nonsynonymous SNV	exon7	c.A1959T	p.K653N	GIYIRYFKQMEVKESYITLAPLYSE	GIYIRYFKQMEVNESYITLAPLYSE	7.0	3.0	-	-	4329_7:149558208-149558208 A>T_GIYIRYFKQMEVNESYITLAPLYSE
1:162773300-162773300 C>T	1.0	4329	COLON	-	-	-	-	HSD17B7	NM_016371,p.T241M|uc001gci.3,p.T241M|ENST00000254521,p.T241M	protein_coding, processed_transcript, nonsense_mediated_decay	uc001gci.3	nonsynonymous SNV	exon6	c.C722T	p.T241M	NLTYGILPPFIWTLLMPAILLLRFF	NLTYGILPPFIWMLLMPAILLLRFF	9.0	8.0	-	-	4329_1:162773300-162773300 C>T_NLTYGILPPFIWMLLMPAILLLRFF
1:182554693-182554693 A>C	1.0	4329	COLON	-	-	-	-	RNASEL	uc009wxz.2,p.L417V|ENST00000367559,p.L417V|uc009wya.1,p.L417V|NM_021133,p.L417V|ENST00000444138,p.L417V|ENST00000539397,p.L417V|uc001gpk.3,p.L417V	protein_coding	uc009wya.1	nonsynonymous SNV	exon1	c.T1249G	p.L417V	VSCLQSSRENSHLVTFYGSESHRGH	VSCLQSSRENSHVVTFYGSESHRGH	5.0	3.0	-	-	4329_1:182554693-182554693 A>C_VSCLQSSRENSHVVTFYGSESHRGH
12:2113513-2113513 T>A	1.0	4329	COLON	-	-	-	-	DCP1B	uc010sdz.2,p.N29Y|uc001qjx.1,p.N29Y|ENST00000280665,p.N29Y|ENST00000543381,p.N29Y|NM_152640,p.N29Y	protein_coding, processed_transcript, nonsense_mediated_decay	uc010sdz.2	nonsynonymous SNV	exon1	c.A85T	p.N29Y	SLAALQRHDPYINRIVDVASQVALY	SLAALQRHDPYIYRIVDVASQVALY	8.0	8.0	-	-	4329_12:2113513-2113513 T>A_SLAALQRHDPYIYRIVDVASQVALY
16:2048525-2048525 T>C	1.0	4329	COLON	-	-	-	-	ZNF598	ENST00000563630,p.Q753R|ENST00000431526,p.Q808R|uc002coe.2,p.Q172R|ENST00000562103,p.Q753R|NM_178167,p.Q808R|uc002cof.2,p.Q808R	retained_intron, protein_coding, nonsense_mediated_decay	uc002cof.2	nonsynonymous SNV	exon14	c.A2423G	p.Q808R	YKSCRDLLGENFQKVFNELLVLLPD	YKSCRDLLGENFRKVFNELLVLLPD	9.0	2.0	unscreened	-	4329_16:2048525-2048525 T>C_YKSCRDLLGENFRKVFNELLVLLPD
19:40424047-40424047 C>A	1.0	4329	COLON	-	-	-	-	FCGBP	ENST00000221347,p.S719I|uc002omp.4,p.S719I|NM_003890,p.S719I	protein_coding, processed_transcript	uc002omp.4	nonsynonymous SNV	exon4	c.G2156T	p.S719I	VGGERLSLCRGLSAYAQACLELGIS	VGGERLSLCRGLIAYAQACLELGIS	10.0	3.0	-	-	4329_19:40424047-40424047 C>A_VGGERLSLCRGLIAYAQACLELGIS
16:348166-348175 AAGTGGTGCC>-	1.0	4329	COLON	-	-	-	1	AXIN1	uc002cgq.2,p.W444fs|NM_003502,p.W444fs|NM_181050,p.W444fs|ENST00000354866,p.W444fs|uc002cgp.2,p.W444fs|ENST00000262320,p.W444fs	retained_intron, protein_coding, processed_transcript	uc002cgq.2	frameshift deletion	exon6	c.1331_1340del	p.W444fs	PGPCHKLPPAPAWHHFPPRCVDMGC	PGPCHKLPPAPASRPAVWTWAVPGSGMHTRRTLRASWTSTYSVC	9.0	2.0	-	-	4329_16:348166-348175 AAGTGGTGCC>-_PGPCHKLPPAPASRPAVWTWAVPGSGMHTRRTLRASWTSTYSVC
12:112673469-112673469 G>A	1.0	4329	COLON	-	-	-	-	HECTD4	ENST00000377560,p.A1683V|ENST00000430131,p.A1433V|uc021reb.1,p.A1721V|NM_001109662,p.A1721V|ENST00000550722,p.A1709V	retained_intron, protein_coding, processed_transcript	uc021reb.1	nonsynonymous SNV	exon36	c.C5162T	p.A1721V	PKLVLIILQLCRAALPLMSVEDCGN	PKLVLIILQLCRVALPLMSVEDCGN	7.0	7.0	-	-	4329_12:112673469-112673469 G>A_PKLVLIILQLCRVALPLMSVEDCGN
10:52103414-52103414 G>A	1.0	4329	COLON	-	-	-	-	SGMS1	uc009xou.1,p.S154L|uc021pqo.1,p.S154L|uc021pqq.1,p.S154L|ENST00000361543,p.S154L|ENST00000361781,p.S154L|NM_147156,p.S154L|uc001jje.3,p.S154L	protein_coding, processed_transcript	uc021pqq.1	nonsynonymous SNV	exon2	c.C461T	p.S154L	ALSCFVLTTVMISVVHERVPPKEVQ	ALSCFVLTTVMILVVHERVPPKEVQ	6.0	6.0	-	-	4329_10:52103414-52103414 G>A_ALSCFVLTTVMILVVHERVPPKEVQ
5:14336772-14336772 G>A	1.0	4329	COLON	-	-	-	-	TRIO	uc003jfh.1,p.R310Q|uc011cna.1,p.R612Q|ENST00000512070,p.R602Q|NM_007118,p.R661Q|ENST00000513206,p.R394Q|ENST00000344204,p.R661Q|uc003jff.3,p.R661Q|ENST00000509967,p.R612Q|ENST00000537187,p.R661Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cna.1	nonsynonymous SNV	exon11	c.G1835A	p.R612Q	AHQLEDRIQDFVRRVEQRKILLDMS	AHQLEDRIQDFVQRVEQRKILLDMS	10.0	10.0	CD8	-	4329_5:14336772-14336772 G>A_AHQLEDRIQDFVQRVEQRKILLDMS
7:55227924-55227924 C>T	1.0	4329	COLON	-	-	-	1	EGFR	uc010kzg.2,p.S419L|NM_201284,p.S464L|uc022adm.1,p.S464L|uc003tqi.3,p.S464L|ENST00000342916,p.S464L|NM_201282,p.S464L|NM_005228,p.S464L|uc003tqk.3,p.S464L|ENST00000275493,p.S464L|uc011kco.2,p.S411L|ENST00000344576,p.S464L|ENST00000454757,p.S411L|uc022adn.1,p.S419L|ENST00000442591,p.S464L|uc003tqj.3,p.S464L|ENST00000455089,p.S419L	retained_intron, protein_coding, processed_transcript	uc022adn.1	nonsynonymous SNV	exon11	c.C1256T	p.S419L	SLKEISDGDVIISGNKNLCYANTIN	SLKEISDGDVIILGNKNLCYANTIN	9.0	2.0	-	-	4329_7:55227924-55227924 C>T_SLKEISDGDVIILGNKNLCYANTIN
5:50059052-50059052 A>T	0.0	4329	COLON	-	-	-	-	PARP8	uc003joo.3,p.Y165F|NM_024615,p.Y165F|uc003jop.3,p.Y165F|uc011cpz.2,p.Y57F|ENST00000514067,p.Y165F|ENST00000505554,p.Y144F|ENST00000515166,p.Y165F|ENST00000505697,p.Y165F|ENST00000503750,p.Y165F|uc003jon.4,p.Y165F|ENST00000281631,p.Y165F|NM_001178056,p.Y165F|NM_001178055,p.Y165F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cpz.2	nonsynonymous SNV	exon6	c.A170T	p.Y57F	QLEADLSAVREIYGPHAVSLREYGA	QLEADLSAVREIFGPHAVSLREYGA	6.0	1.0	-	-	4329_5:50059052-50059052 A>T_QLEADLSAVREIFGPHAVSLREYGA
3:178921553-178921553 T>A	1.0	4329	COLON	-	-	ID=COSM754,COSM132748;OCCURENCE=1(lung),5(central_nervous_system),1(stomach),44(breast),4(large_intestine),1(prostate),2(urinary_tract),5(endometrium),1(salivary_gland)	1	PIK3CA	ENST00000263967,p.N345K|uc003fjk.3,p.N345K|NM_006218,p.N345K	retained_intron, protein_coding	uc003fjk.3	nonsynonymous SNV	exon5	c.T1035A	p.N345K	ALRIKILCATYVNVNIRDIDKIYVR	ALRIKILCATYVKVNIRDIDKIYVR	7.0	9.0	-	-	4329_3:178921553-178921553 T>A_ALRIKILCATYVKVNIRDIDKIYVR
19:44611056-44611056 A>G	1.0	4329	COLON	-	-	-	-	ZNF224	NM_013398,p.N248S|uc002oyh.2,p.N248S|ENST00000336976,p.N248S	retained_intron, protein_coding, processed_transcript	uc002oyh.2	nonsynonymous SNV	exon6	c.A743G	p.N248S	ECGKGFSRRSALNVHHKLHTGEKPY	ECGKGFSRRSALSVHHKLHTGEKPY	9.0	8.0	-	-	4329_19:44611056-44611056 A>G_ECGKGFSRRSALSVHHKLHTGEKPY
17:37263770-37263770 A>T	0.0	4329	COLON	-	-	-	-	PLXDC1	uc002hrg.2,p.F201I|ENST00000578390,p.F201I|ENST00000444911,p.F161I|ENST00000539608,p.F128I|ENST00000394316,p.F201I|ENST00000315392,p.F201I|NM_020405,p.F201I|ENST00000441877,p.F128I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002hrg.2	nonsynonymous SNV	exon6	c.T601A	p.F201I	NSTVVYFDNGTVFVVQWDHVYLQGW	NSTVVYFDNGTVIVVQWDHVYLQGW	8.0	2.0	-	-	4329_17:37263770-37263770 A>T_NSTVVYFDNGTVIVVQWDHVYLQGW
16:67969940-67969940 C>G	1.0	4329	COLON	-	-	-	-	PSMB10	ENST00000358514,p.E103D|uc002eux.2,p.E103D|NM_002801,p.E103D	retained_intron, protein_coding	uc002eux.2	nonsynonymous SNV	exon4	c.G309C	p.E103D	AEMTTRMVASKMELHALSTGREPRV	AEMTTRMVASKMDLHALSTGREPRV	9.0	7.0	-	-	4329_16:67969940-67969940 C>G_AEMTTRMVASKMDLHALSTGREPRV
3:195506062-195506062 G>T	1.0	4329	COLON	-	-	-	2	MUC4	uc021xjp.1,p.P4130H|ENST00000463781,p.P4130H|NM_018406,p.P4130H|ENST00000479406,p.P4130H|ENST00000475231,p.P4130H|ENST00000480843,p.P4130H|ENST00000478156,p.P4130H|ENST00000466475,p.P4130H|ENST00000470451,p.P4130H|ENST00000477756,p.P4130H|ENST00000462323,p.P4130H|ENST00000477086,p.P4130H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C12389A	p.P4130H	TSSASTGQATPLPVTSLSSVSTGDT	TSSASTGQATPLHVTSLSSVSTGDT	9.0	5.0	unscreened	-	4329_3:195506062-195506062 G>T_TSSASTGQATPLHVTSLSSVSTGDT
X:76949320-76949320 T>-	1.0	4329	COLON	-	-	-	1	ATRX	NM_000489,p.K159fs|ENST00000373344,p.K159fs|uc010nlx.1,p.K159fs|uc004ecp.4,p.K159fs|uc010nly.1,p.K104fs	protein_coding, processed_transcript	uc010nly.1	frameshift deletion	exon5	c.312delA	p.K104fs	RSRSKMKTENLKKRGEDGLHGIVSC	RSRSKMKTENLKNAEKMGFMGL	8.0	10.0	-	-	4329_X:76949320-76949320 T>-_RSRSKMKTENLKNAEKMGFMGL
1:52861774-52861774 C>T	1.0	4329	COLON	-	-	-	-	ORC1	uc001ctt.3,p.R222H|NM_001190818,p.R222H|NM_001190819,p.R222H|uc010oni.2,p.R222H|ENST00000371566,p.R222H|uc001ctu.3,p.R222H|NM_004153,p.R222H|ENST00000371568,p.R222H	protein_coding, processed_transcript	uc010oni.2	nonsynonymous SNV	exon5	c.G665A	p.R222H	KRIESRHSASKSRQTPTHPLTPRAR	KRIESRHSASKSHQTPTHPLTPRAR	7.0	7.0	-	-	4329_1:52861774-52861774 C>T_KRIESRHSASKSHQTPTHPLTPRAR
1:16719928-16719928 C>A	1.0	4329	COLON	-	-	-	-	SZRD1	NM_001114600,p.L103M|ENST00000471507,p.L102M|ENST00000401089,p.L84M|uc001ayk.5,p.L83M|uc010ocb.2,p.L83M|ENST00000375590,p.L83M|ENST00000401088,p.L103M|uc001ayi.5,p.L84M|ENST00000492354,p.L83M|uc031plh.1,p.L102M|NM_001271869,p.L102M|uc001aym.5,p.L103M	protein_coding, processed_transcript, nonsense_mediated_decay	uc031plh.1	nonsynonymous SNV	exon3	c.C304A	p.L102M	REAEYAEARKRILGSASPEEEQEKP	REAEYAEARKRIMGSASPEEEQEKP	9.0	1.0	-	-	4329_1:16719928-16719928 C>A_REAEYAEARKRIMGSASPEEEQEKP
3:12977522-12977522 G>C	1.0	4329	COLON	-	-	-	-	IQSEC1	NM_014869,p.L346V|ENST00000429247,p.L332V|ENST00000273221,p.L346V|NM_001134382,p.L332V|uc003bxt.3,p.L346V|uc003bxu.4,p.L224V|uc011auw.2,p.L332V	protein_coding, processed_transcript	uc011auw.2	nonsynonymous SNV	exon3	c.C994G	p.L332V	LRAGGAAPDYWALAHKEDKADTDTS	LRAGGAAPDYWAVAHKEDKADTDTS	7.0	9.0	-	-	4329_3:12977522-12977522 G>C_LRAGGAAPDYWAVAHKEDKADTDTS
11:104878041-104878041 T>-	0.0	4329	COLON	-	-	ID=COSM1192752,COSM111529;OCCURENCE=1(ovary),15(large_intestine),1(liver)	-	CASP5	NM_001136112,p.T81fs|ENST00000393139,p.T35fs|NM_004347,p.T68fs|ENST00000260315,p.T68fs|uc010rva.1,p.T68fs|ENST00000526056,p.T81fs|ENST00000456094,p.T52fs|ENST00000393141,p.T81fs|uc010ruz.1,p.T81fs	protein_coding, nonsense_mediated_decay	uc010rva.1	frameshift deletion	exon3	c.202delA	p.T68fs	STSVKKDNHKKKTVKMLEYLGKDVL	STSVKKDNHKKKQLRCWNTWAKMFFMVFLIIWQNTMF	6.0	1.0	unscreened	-	4329_11:104878041-104878041 T>-_STSVKKDNHKKKQLRCWNTWAKMFFMVFLIIWQNTMF
11:104878041-104878041 T>-	0.0	4329	COLON	-	-	ID=COSM1192752,COSM111529;OCCURENCE=1(ovary),15(large_intestine),1(liver)	-	CASP5	uc010rvb.1,p.T10fs|ENST00000444749,p.T10fs|NM_001136109,p.T10fs|ENST00000456200,p.T10fs	protein_coding, nonsense_mediated_decay	uc010rvb.1	frameshift deletion	exon2	c.28delA	p.T10fs	MAEDNHKKKTVKMLEYLGKDVL	MAEDNHKKKQLRCWNTWAKMFFMVFLIIWQNTMF	6.0	1.0	unscreened	-	4329_11:104878041-104878041 T>-_MAEDNHKKKQLRCWNTWAKMFFMVFLIIWQNTMF
3:195509423-195509423 G>A	1.0	4329	COLON	-	-	-	2	MUC4	ENST00000463781,p.P3010S|ENST00000462323,p.P3010S|ENST00000466475,p.P3010S|ENST00000480843,p.P3010S|uc021xjp.1,p.P3010S|ENST00000475231,p.P3010S|ENST00000477756,p.P3010S|ENST00000470451,p.P3010S|NM_018406,p.P3010S|ENST00000479406,p.P3010S|ENST00000478156,p.P3010S|ENST00000477086,p.P3010S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C9028T	p.P3010S	TSSASIGHATSLPVTDTSSISTGHA	TSSASIGHATSLSVTDTSSISTGHA	9.0	5.0	unscreened	-	4329_3:195509423-195509423 G>A_TSSASIGHATSLSVTDTSSISTGHA
3:195507854-195507854 G>C	1.0	4329	COLON	-	-	ID=COSM4157626,COSM4157627;OCCURENCE=1(thyroid)	2	MUC4	ENST00000475231,p.H3533D|ENST00000477086,p.H3533D|ENST00000480843,p.H3533D|ENST00000478156,p.H3533D|ENST00000477756,p.H3533D|ENST00000462323,p.H3533D|uc021xjp.1,p.H3533D|ENST00000470451,p.H3533D|ENST00000479406,p.H3533D|ENST00000466475,p.H3533D|ENST00000463781,p.H3533D|NM_018406,p.H3533D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C10597G	p.H3533D	LPVTDTSSVSTGHATPLPVTSLSSV	LPVTDTSSVSTGDATPLPVTSLSSV	9.0	5.0	unscreened	-	4329_3:195507854-195507854 G>C_LPVTDTSSVSTGDATPLPVTSLSSV
7:45009658-45009658 T>C	0.0	4329	COLON	-	-	-	-	MYO1G	uc010kym.2,p.E323G|ENST00000258787,p.E438G|NM_033054,p.E438G|uc003tmh.2,p.E438G|uc003tmg.2,p.E200G|uc003tmi.1,p.E350G|uc003tmj.2,p.E200G	retained_intron, protein_coding, nonsense_mediated_decay	uc010kym.2	nonsynonymous SNV	exon9	c.A968G	p.E323G	LILKQEQEEYEREGITWQSVEYFNN	LILKQEQEEYERGGITWQSVEYFNN	5.0	4.0	-	-	4329_7:45009658-45009658 T>C_LILKQEQEEYERGGITWQSVEYFNN
6:33172889-33172889 A>G	1.0	4329	COLON	-	-	-	-	HSD17B8	uc003odi.2,p.Q88R|NM_014234,p.Q88R|ENST00000374662,p.Q88R	protein_coding, processed_transcript	uc003odi.2	nonsynonymous SNV	exon2	c.A263G	p.Q88R	VSEARAARCLLEQVQACFSRPPSVV	VSEARAARCLLERVQACFSRPPSVV	7.0	9.0	-	-	4329_6:33172889-33172889 A>G_VSEARAARCLLERVQACFSRPPSVV
19:45324009-45324009 A>G	0.0	4329	COLON	-	-	-	-	BCAM	ENST00000270233,p.E604G|uc002ozu.4,p.E604G|NM_005581,p.E604G	retained_intron, protein_coding, nonsense_mediated_decay	uc002ozu.4	nonsynonymous SNV	exon14	c.A1811G	p.E604G	EPGLSHSGSEQPEQTGLLMGGASGG	EPGLSHSGSEQPGQTGLLMGGASGG	8.0	4.0	-	-	4329_19:45324009-45324009 A>G_EPGLSHSGSEQPGQTGLLMGGASGG
X:3007562-3007562 T>G	0.0	4329	COLON	-	-	-	-	ARSF	uc004cre.2,p.F286V|NM_001201539,p.F286V|ENST00000537104,p.F286V|NM_001201538,p.F286V|ENST00000359361,p.F286V|ENST00000381127,p.F286V|NM_004042,p.F286V|uc004crf.2,p.F286V|uc022brz.1,p.F286V	protein_coding	uc022brz.1	nonsynonymous SNV	exon7	c.T856G	p.F286V	FLERHSKETFLLFFSFLHVHTPLPT	FLERHSKETFLLVFSFLHVHTPLPT	1.0	10.0	-	-	4329_X:3007562-3007562 T>G_FLERHSKETFLLVFSFLHVHTPLPT
X:224159-224159 T>A	1.0	4329	COLON	-	-	-	-	GTPBP6	ENST00000326153,p.N203I	protein_coding, processed_transcript	ENST00000326153	nonsynonymous SNV	exon5	c.A608T	p.N203I	VDLVPGYSPTEPNVVPVSALRGHGL	VDLVPGYSPTEPIVVPVSALRGHGL	9.0	5.0	unscreened	-	4329_X:224159-224159 T>A_VDLVPGYSPTEPIVVPVSALRGHGL
1:109944647-109944647 G>C	1.0	4329	COLON	-	-	ID=COSM674463;OCCURENCE=1(lung)	-	PSMA5	uc021ore.1,p.I180M|uc010ovj.2,p.I180M|ENST00000538610,p.I180M|NM_001199774,p.I180M|uc001dxn.3,p.I238M|NM_001199772,p.I180M|NM_002790,p.I238M|ENST00000271308,p.I238M|NM_001199773,p.I180M|uc021ord.1,p.I180M	protein_coding, processed_transcript	uc021ore.1	nonsynonymous SNV	exon9	c.C540G	p.I180M	FHMFTKEELEEVIKDI	FHMFTKEELEEVMKDI	10.0	10.0	-	-	4329_1:109944647-109944647 G>C_FHMFTKEELEEVMKDI
5:118486042-118486042 T>A	1.0	4329	COLON	-	-	-	-	DMXL1	NM_001290322,p.M1334K|ENST00000311085,p.M1507K|NM_005509,p.M1507K|uc003ksd.2,p.M1507K|uc021ycw.1,p.M1334K|uc010jcl.1,p.M1507K|ENST00000539542,p.M1507K|NM_001290321,p.M1507K	retained_intron, protein_coding, processed_transcript	uc021ycw.1	nonsynonymous SNV	exon18	c.T4001A	p.M1334K	HSSLPGLSRMEQMSLMALADTIATT	HSSLPGLSRMEQKSLMALADTIATT	7.0	10.0	-	-	4329_5:118486042-118486042 T>A_HSSLPGLSRMEQKSLMALADTIATT
3:195514244-195514244 T>A	1.0	4329	COLON	-	-	-	2	MUC4	ENST00000477756,p.T1403S|ENST00000466475,p.T1403S|ENST00000478156,p.T1403S|NM_018406,p.T1403S|ENST00000475231,p.T1403S|ENST00000463781,p.T1403S|ENST00000470451,p.T1403S|uc021xjp.1,p.T1403S|ENST00000479406,p.T1403S|ENST00000462323,p.T1403S|ENST00000477086,p.T1403S|ENST00000480843,p.T1403S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.A4207T	p.T1403S	TPLPVTSPSSASTGHATPLLVTDTS	TPLPVTSPSSASSGHATPLLVTDTS	9.0	8.0	unscreened	-	4329_3:195514244-195514244 T>A_TPLPVTSPSSASSGHATPLLVTDTS
6:51918854-51918854 G>A	1.0	4329	COLON	-	-	-	-	PKHD1	uc003pah.1,p.T649M|ENST00000371117,p.T649M|ENST00000340994,p.T649M|NM_170724,p.T649M|uc003pai.3,p.T649M|NM_138694,p.T649M	protein_coding	uc003pai.3	nonsynonymous SNV	exon20	c.C1946T	p.T649M	NMVKNTTCDWSLTRTSPESWQFDCT	NMVKNTTCDWSLMRTSPESWQFDCT	4.0	6.0	-	-	4329_6:51918854-51918854 G>A_NMVKNTTCDWSLMRTSPESWQFDCT
9:123902994-123902994 C>T	1.0	4329	COLON	0.0005	-	-	1	CNTRL	uc004bky.1,p.R409C|NM_007018,p.R805C|ENST00000373855,p.R805C|ENST00000238341,p.R805C|uc004bkz.1,p.R253C|ENST00000373850,p.R253C|uc004bla.1,p.R253C|ENST00000373847,p.R253C|uc004bkx.1,p.R805C	protein_coding, processed_transcript	uc004bla.1	nonsynonymous SNV	exon6	c.C757T	p.R253C	QNHLNHVVDGLVRPEEVAARVDELR	QNHLNHVVDGLVCPEEVAARVDELR	7.0	8.0	-	-	4329_9:123902994-123902994 C>T_QNHLNHVVDGLVCPEEVAARVDELR
12:122359536-122359536 C>T	0.0	4329	COLON	-	-	-	-	WDR66	uc021rfh.1,p.R109C|uc009zxk.3,p.R109C|ENST00000288912,p.R109C|NM_001178003,p.R109C|NM_144668,p.R109C|ENST00000397454,p.R109C	retained_intron, protein_coding, processed_transcript	uc021rfh.1	nonsynonymous SNV	exon2	c.C325T	p.R109C	TVEPQEVTASMIRLETQITDSQSIT	TVEPQEVTASMICLETQITDSQSIT	5.0	9.0	-	-	4329_12:122359536-122359536 C>T_TVEPQEVTASMICLETQITDSQSIT
7:148768242-148768242 T>G	1.0	4329	COLON	-	-	-	-	ZNF786	ENST00000451334,p.K504T|ENST00000316286,p.K455T|ENST00000491431,p.K541T|uc003wfh.2,p.K541T|uc011kuk.1,p.K504T|NM_152411,p.K541T|uc003wfi.2,p.K455T	protein_coding	uc011kuk.1	nonsynonymous SNV	exon5	c.A1511C	p.K504T	RVHSGERPFQCLKCDKRFRLKGILK	RVHSGERPFQCLTCDKRFRLKGILK	5.0	3.0	-	-	4329_7:148768242-148768242 T>G_RVHSGERPFQCLTCDKRFRLKGILK
1:248309045-248309045 T>A	0.0	4329	COLON	-	-	-	-	OR2M5	uc010pze.2,p.L199H|NM_001004690,p.L199H|ENST00000366476,p.L199H	protein_coding	uc010pze.2	nonsynonymous SNV	exon1	c.T596A	p.L199H	LSCNDTSIFEKVLFICCIVMIVFPV	LSCNDTSIFEKVHFICCIVMIVFPV	1.0	1.0	unscreened	-	4329_1:248309045-248309045 T>A_LSCNDTSIFEKVHFICCIVMIVFPV
7:154862986-154862986 C>T	0.0	4329	COLON	-	-	-	-	HTR5A	ENST00000287907,p.T126M|uc003wlu.2,p.T126M|NM_024012,p.T126M	protein_coding, processed_transcript	uc003wlu.2	nonsynonymous SNV	exon1	c.C377T	p.T126M	CQLWIACDVLCCTASIWNVTAIALD	CQLWIACDVLCCMASIWNVTAIALD	1.0	6.0	-	-	4329_7:154862986-154862986 C>T_CQLWIACDVLCCMASIWNVTAIALD
3:65342775-65342775 C>T	1.0	4329	COLON	-	-	-	-	MAGI1	uc003dmn.3,p.G1223S|ENST00000402939,p.G1223S|NM_001033057,p.G1223S	retained_intron, protein_coding, processed_transcript	uc003dmn.3	nonsynonymous SNV	exon23	c.G3667A	p.G1223S	YDPSSDRHGPATGPQGVPEVRAGPD	YDPSSDRHGPATSPQGVPEVRAGPD	10.0	7.0	-	-	4329_3:65342775-65342775 C>T_YDPSSDRHGPATSPQGVPEVRAGPD
19:39062903-39062903 G>A	0.0	4329	COLON	-	-	-	-	RYR1	ENST00000360985,p.C4659Y|ENST00000355481,p.C4659Y|uc002oit.3,p.C4664Y|ENST00000359596,p.C4664Y|NM_000540,p.C4664Y|uc002oiu.3,p.C4659Y|NM_001042723,p.C4659Y	retained_intron, protein_coding, nonsense_mediated_decay	uc002oiu.3	nonsynonymous SNV	exon94	c.G13976A	p.C4659Y	TLVAFLCIIGYNCLKVPLVIFKREK	TLVAFLCIIGYNYLKVPLVIFKREK	3.0	8.0	-	-	4329_19:39062903-39062903 G>A_TLVAFLCIIGYNYLKVPLVIFKREK
11:93913018-93913019 AA>-	1.0	4329	COLON	-	-	-	-	PANX1	ENST00000436171,p.K266fs|uc001per.3,p.K266fs|NM_015368,p.K266fs|uc001peq.3,p.K266fs|ENST00000227638,p.K266fs	protein_coding	uc001per.3	frameshift deletion	exon4	c.796_797del	p.K266fs	RNDSTVPDQFQCKLIAVGIFQLLSV	RNDSTVPDQFQCTHCRGHLPVAQCH	5.0	9.0	-	-	4329_11:93913018-93913019 AA>-_RNDSTVPDQFQCTHCRGHLPVAQCH
1:35227616-35227616 A>T	0.0	4329	COLON	-	-	-	-	GJB4	ENST00000339480,p.K254M|uc001bxw.4,p.K254M|uc001bxv.1,p.K254M|NM_153212,p.K254M	protein_coding	uc001bxw.4	nonsynonymous SNV	exon1	c.A761T	p.K254M	GGHPEDGNSVLMKAGSAPVDAGGYP	GGHPEDGNSVLMMAGSAPVDAGGYP	3.0	3.0	-	-	4329_1:35227616-35227616 A>T_GGHPEDGNSVLMMAGSAPVDAGGYP
X:76949320-76949320 T>-	1.0	4329	COLON	-	-	-	1	ATRX	ENST00000373341,p.K120fs	protein_coding, processed_transcript	ENST00000373341	frameshift deletion	exon5	c.360delA	p.K120fs	RSRSKMKTENLKKRGGKYK	RSRSKMKTENLKNAEVNTS	8.0	10.0	unscreened	-	4329_X:76949320-76949320 T>-_RSRSKMKTENLKNAEVNTS
1:185902913-185902913 T>G	0.0	4329	COLON	-	-	-	-	HMCN1	ENST00000271588,p.S595R|uc001grq.1,p.S595R|NM_031935,p.S595R|ENST00000367492,p.S595R	protein_coding, processed_transcript	uc001grq.1	nonsynonymous SNV	exon11	c.T1785G	p.S595R	FNDAGEYHCMVSSEGGSSAASVFLT	FNDAGEYHCMVSREGGSSAASVFLT	7.0	7.0	-	-	4329_1:185902913-185902913 T>G_FNDAGEYHCMVSREGGSSAASVFLT
1:37356668-37356668 T>C	0.0	4329	COLON	-	-	-	-	GRIK3	ENST00000373091,p.N49D|ENST00000373093,p.N49D|uc001caz.2,p.N49D|NM_000831,p.N49D|uc001cba.1,p.N49D	protein_coding, processed_transcript	uc001cba.1	nonsynonymous SNV	exon2	c.A145G	p.N49D	RIGGIFEYADGPNAQVMNAEEHAFR	RIGGIFEYADGPDAQVMNAEEHAFR	1.0	8.0	-	-	4329_1:37356668-37356668 T>C_RIGGIFEYADGPDAQVMNAEEHAFR
1:10699448-10699448 C>T	0.0	4329	COLON	-	-	-	-	CASZ1	ENST00000377022,p.G1611R|uc001aro.4,p.G1611R|NM_001079843,p.G1611R	retained_intron, protein_coding, processed_transcript	uc001aro.4	nonsynonymous SNV	exon21	c.G4831A	p.G1611R	ERGEPAAEGPAPGPPISLDGSLSLG	ERGEPAAEGPAPRPPISLDGSLSLG	7.0	9.0	-	-	4329_1:10699448-10699448 C>T_ERGEPAAEGPAPRPPISLDGSLSLG
9:125562624-125562624 G>A	0.0	4329	COLON	-	-	-	-	OR1K1	ENST00000277309,p.A75T|uc011lze.2,p.A75T|NM_080859,p.A75T	protein_coding	uc011lze.2	nonsynonymous SNV	exon1	c.G223A	p.A75T	LLAHLSFADLCFASVTVPKMLANLL	LLAHLSFADLCFTSVTVPKMLANLL	1.0	9.0	-	-	4329_9:125562624-125562624 G>A_LLAHLSFADLCFTSVTVPKMLANLL
3:195514855-195514855 G>C	0.0	4329	COLON	-	-	-	2	MUC4	NM_018406,p.T1199S|ENST00000480843,p.T1199S|ENST00000478156,p.T1199S|ENST00000475231,p.T1199S|ENST00000463781,p.T1199S|ENST00000462323,p.T1199S|ENST00000477086,p.T1199S|ENST00000470451,p.T1199S|ENST00000466475,p.T1199S|ENST00000479406,p.T1199S|ENST00000477756,p.T1199S|uc021xjp.1,p.T1199S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C3596G	p.T1199S	VTSPSSASTGHATPLLVTDTSSAST	VTSPSSASTGHASPLLVTDTSSAST	9.0	1.0	unscreened	-	4329_3:195514855-195514855 G>C_VTSPSSASTGHASPLLVTDTSSAST
3:186262111-186262111 G>C	1.0	4329	COLON	-	-	-	-	CRYGS	uc003fqe.3,p.S2C|ENST00000392499,p.S2C|uc031scs.1,p.S2C|ENST00000307944,p.S2C|NM_017541,p.S2C	retained_intron, protein_coding	uc031scs.1	nonsynonymous SNV	exon2	c.C5G	p.S2C	MSKTGTKITFYEDK	MCKTGTKITFYEDK	4.0	1.0	-	-	4329_3:186262111-186262111 G>C_MCKTGTKITFYEDK
1:248309044-248309044 C>-	0.0	4329	COLON	-	-	-	-	OR2M5	uc010pze.2,p.L199fs|ENST00000366476,p.L199fs|NM_001004690,p.L199fs	protein_coding	uc010pze.2	frameshift deletion	exon1	c.595delC	p.L199fs	LSCNDTSIFEKVLFICCIVMIVFPV	LSCNDTSIFEKVFSSAV	1.0	1.0	unscreened	-	4329_1:248309044-248309044 C>-_LSCNDTSIFEKVFSSAV
2:166231326-166231326 T>A	0.0	4329	COLON	-	-	-	-	SCN2A	NM_001040143,p.N1368K|NM_001040142,p.N1368K|ENST00000375437,p.N1368K|ENST00000357398,p.N1368K|ENST00000375427,p.N1368K|ENST00000283256,p.N1368K|uc002udc.3,p.N1368K|NM_021007,p.N1368K|uc002udd.3,p.N1368K|uc002ude.3,p.N1368K	retained_intron, protein_coding	uc002ude.3	nonsynonymous SNV	exon21	c.T4104A	p.N1368K	VNLFAGKFYHCINYTTGEMFDVSVV	VNLFAGKFYHCIKYTTGEMFDVSVV	2.0	4.0	-	-	4329_2:166231326-166231326 T>A_VNLFAGKFYHCIKYTTGEMFDVSVV
6:47680331-47680331 G>A	1.0	4329	COLON	0.0005	-	-	-	GPR115	uc003oyz.1,p.R237Q|uc003oza.1,p.R180Q|ENST00000327753,p.R180Q|NM_153838,p.R180Q|ENST00000371220,p.R237Q|uc003ozb.1,p.R180Q|ENST00000283303,p.R180Q	protein_coding	uc003ozb.1	nonsynonymous SNV	exon5	c.G539A	p.R180Q	KNISTDLSDNVTREKMKSYSEVANH	KNISTDLSDNVTQEKMKSYSEVANH	5.0	9.0	-	-	4329_6:47680331-47680331 G>A_KNISTDLSDNVTQEKMKSYSEVANH
16:904648-904648 C>T	1.0	4329	COLON	-	-	-	-	LMF1	ENST00000262301,p.A530T|ENST00000399843,p.A530T|uc010uuu.2,p.A313T|uc021tae.1,p.A530T|NM_022773,p.A530T|uc002ckk.2,p.A313T|ENST00000543238,p.A293T|ENST00000568897,p.A313T|uc010bri.2,p.A293T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc021tae.1	nonsynonymous SNV	exon11	c.G1588A	p.A530T	RYKFSRPGGRHAAEGKWWVRKRIGA	RYKFSRPGGRHATEGKWWVRKRIGA	7.0	9.0	-	-	4329_16:904648-904648 C>T_RYKFSRPGGRHATEGKWWVRKRIGA
17:29159382-29159382 C>T	0.0	4329	COLON	-	-	-	-	ATAD5	ENST00000578295,p.A6V|uc002hfs.1,p.A6V|ENST00000321990,p.A6V|NM_024857,p.A6V	retained_intron, protein_coding, non_stop_decay	uc002hfs.1	nonsynonymous SNV	exon1	c.C17T	p.A6V	MVGVLAMAAAAAPPPVKD	MVGVLVMAAAAAPPPVKD	6.0	4.0	-	-	4329_17:29159382-29159382 C>T_MVGVLVMAAAAAPPPVKD
8:42587280-42587280 T>G	0.0	4329	COLON	-	-	-	-	CHRNB3	uc003xpi.1,p.V277G|ENST00000289957,p.V277G|NM_000749,p.V277G	protein_coding, processed_transcript	uc003xpi.1	nonsynonymous SNV	exon5	c.T830G	p.V277G	LSLSTSVLVSLTVFLLVIEEIIPSS	LSLSTSVLVSLTGFLLVIEEIIPSS	1.0	5.0	-	-	4329_8:42587280-42587280 T>G_LSLSTSVLVSLTGFLLVIEEIIPSS
6:74072546-74072546 T>A	0.0	4329	COLON	-	-	-	-	KHDC3L	ENST00000370367,p.S32T|NM_001017361,p.S32T|uc003pgt.4,p.S32T	protein_coding	uc003pgt.4	nonsynonymous SNV	exon1	c.T94A	p.S32T	PVEVLGHLPKRFSWFHSEFLKNPKV	PVEVLGHLPKRFTWFHSEFLKNPKV	1.0	4.0	-	-	4329_6:74072546-74072546 T>A_PVEVLGHLPKRFTWFHSEFLKNPKV
11:12316387-12316389 CTA>-	0.0	4329	COLON	-	-	ID=COSM128728;OCCURENCE=1(skin),1(upper_aerodigestive_tract),1(oesophagus)	-	MICALCL	ENST00000256186,p.470_471del|uc001mkg.1,p.470_471del|NM_032867,p.470_471del	protein_coding, processed_transcript	uc001mkg.1	nonframeshift deletion	exon3	c.1409_1411del	p.470_471del	PPPPPPPPPPPPPTAGGADSKNFPL	PPPPPPPPPPPPPAGGADSKNFPLR	5.0	10.0	unscreened	-	4329_11:12316387-12316389 CTA>-_PPPPPPPPPPPPPAGGADSKNFPLR
13:32363287-32363287 A>T	0.0	4329	COLON	-	-	-	-	RXFP2	uc010aba.3,p.I344L|NM_001166058,p.I344L|ENST00000380314,p.I344L|NM_130806,p.I368L|ENST00000298386,p.I368L|uc001utt.3,p.I368L	protein_coding	uc010aba.3	nonsynonymous SNV	exon13	c.A1030T	p.I344L	QSLDLERIEIPNINTRMFQPMKNLS	QSLDLERIEIPNLNTRMFQPMKNLS	1.0	2.0	-	-	4329_13:32363287-32363287 A>T_QSLDLERIEIPNLNTRMFQPMKNLS
6:35987386-35987388 CTC>-	0.0	4329	COLON	-	-	-	-	SLC26A8	NM_052961,p.33_33del|uc003oll.3,p.33_33del|ENST00000480663,p.119_119del|ENST00000355574,p.33_33del|NM_001193476,p.33_33del|NM_138718,p.33_33del|uc003olm.3,p.33_33del|ENST00000394602,p.33_33del|ENST00000490799,p.33_33del|uc003oln.3,p.33_33del	retained_intron, protein_coding, nonsense_mediated_decay	uc003oln.3	nonframeshift deletion	exon2	c.97_99del	p.33_33del	FAYDVKREVYNEETFQQEHKRKASS	FAYDVKREVYNETFQQEHKRKASSS	1.0	10.0	-	-	4329_6:35987386-35987388 CTC>-_FAYDVKREVYNETFQQEHKRKASSS
20:61444637-61444637 G>C	1.0	4329	COLON	-	-	-	-	OGFR	ENST00000370461,p.S505T|uc002ydl.3,p.S505T|uc002ydj.3,p.S557T|uc002ydk.3,p.S540T|ENST00000290291,p.S557T|NM_007346,p.S557T	protein_coding	uc002ydl.3	nonsynonymous SNV	exon5	c.G1514C	p.S505T	RPAGPAGDEPAESPSETPGPRPAGP	RPAGPAGDEPAETPSETPGPRPAGP	9.0	2.0	unscreened	-	4329_20:61444637-61444637 G>C_RPAGPAGDEPAETPSETPGPRPAGP
16:31765853-31765853 C>G	1.0	4329	COLON	-	-	-	-	ZNF720	uc002ecq.3,p.L149V|ENST00000399681,p.L81V|uc010vfs.2,p.L81V	protein_coding, processed_transcript, nonsense_mediated_decay	uc010vfs.2	nonsynonymous SNV	exon6	c.C241G	p.L81V	GISPRRHQKTHFLHNHCKRKKCEKA	GISPRRHQKTHFVHNHCKRKKCEKA	8.0	10.0	-	-	4329_16:31765853-31765853 C>G_GISPRRHQKTHFVHNHCKRKKCEKA
3:137796451-137796451 G>T	0.0	4329	COLON	-	-	-	-	DZIP1L	ENST00000469243,p.Q438K|uc003err.1,p.Q438K|ENST00000327532,p.Q438K|NM_001170538,p.Q438K|uc003erq.3,p.Q438K|NM_173543,p.Q438K	retained_intron, protein_coding, processed_transcript	uc003err.1	nonsynonymous SNV	exon12	c.C1312A	p.Q438K	SPEEEMEDSQDEQHKVLAALRRNPT	SPEEEMEDSQDEKHKVLAALRRNPT	5.0	1.0	-	-	4329_3:137796451-137796451 G>T_SPEEEMEDSQDEKHKVLAALRRNPT
3:195508402-195508402 G>T	1.0	4329	COLON	-	-	-	2	MUC4	ENST00000462323,p.T3350N|uc021xjp.1,p.T3350N|ENST00000480843,p.T3350N|ENST00000478156,p.T3350N|NM_018406,p.T3350N|ENST00000477756,p.T3350N|ENST00000475231,p.T3350N|ENST00000479406,p.T3350N|ENST00000470451,p.T3350N|ENST00000466475,p.T3350N|ENST00000463781,p.T3350N|ENST00000477086,p.T3350N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C10049A	p.T3350N	STGDTTPVPVTDTSSVSTGHATPLP	STGDTTPVPVTDNSSVSTGHATPLP	9.0	7.0	unscreened	-	4329_3:195508402-195508402 G>T_STGDTTPVPVTDNSSVSTGHATPLP
11:7070934-7070934 A>C	0.0	4329	COLON	-	-	-	-	NLRP14	uc001mfb.1,p.Q719P|ENST00000299481,p.Q719P|NM_176822,p.Q719P	protein_coding	uc001mfb.1	nonsynonymous SNV	exon6	c.A2156C	p.Q719P	LLLKFITFPDGCQDISTSLIHNKNL	LLLKFITFPDGCPDISTSLIHNKNL	1.0	2.0	-	-	4329_11:7070934-7070934 A>C_LLLKFITFPDGCPDISTSLIHNKNL
3:195507778-195507778 G>A	1.0	4329	COLON	-	-	-	2	MUC4	ENST00000479406,p.A3558V|ENST00000463781,p.A3558V|ENST00000462323,p.A3558V|uc021xjp.1,p.A3558V|ENST00000477086,p.A3558V|ENST00000466475,p.A3558V|ENST00000480843,p.A3558V|NM_018406,p.A3558V|ENST00000477756,p.A3558V|ENST00000470451,p.A3558V|ENST00000475231,p.A3558V|ENST00000478156,p.A3558V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C10673T	p.A3558V	STGDTTPLPVTDASSASTGQATPLP	STGDTTPLPVTDVSSASTGQATPLP	9.0	5.0	unscreened	-	4329_3:195507778-195507778 G>A_STGDTTPLPVTDVSSASTGQATPLP
15:79059041-79059041 T>C	0.0	4329	COLON	-	-	-	-	ADAMTS7	uc002bej.4,p.N1071S|NM_014272,p.N1071S|ENST00000388820,p.N1071S	retained_intron, protein_coding, processed_transcript	uc002bej.4	nonsynonymous SNV	exon19	c.A3212G	p.N1071S	FVDDFYYDYNFINFHEDLSYGPSEE	FVDDFYYDYNFISFHEDLSYGPSEE	5.0	5.0	unscreened	-	4329_15:79059041-79059041 T>C_FVDDFYYDYNFISFHEDLSYGPSEE
12:121598721-121598721 C>T	0.0	4329	COLON	-	-	ID=COSM1359427;OCCURENCE=1(large_intestine)	-	P2RX7	NM_002562,p.T127M|uc001tzn.3,p.T37M|ENST00000377162,p.T127M|ENST00000541564,p.T127M|ENST00000261826,p.T127M|ENST00000535250,p.T37M|uc001tzm.3,p.T127M|ENST00000546057,p.T127M|ENST00000535600,p.T127M	retained_intron, protein_coding, nonsense_mediated_decay	uc001tzn.3	nonsynonymous SNV	exon5	c.C110T	p.T37M	EQRLCPEYPTRRTLCSSDRGCKKGW	EQRLCPEYPTRRMLCSSDRGCKKGW	5.0	3.0	-	-	4329_12:121598721-121598721 C>T_EQRLCPEYPTRRMLCSSDRGCKKGW
17:37263770-37263770 A>T	0.0	4329	COLON	-	-	-	-	PLXDC1	uc002hrf.1,p.K98N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002hrf.1	nonsynonymous SNV	exon3	c.A294T	p.K98N	PALEINVVPLNHKDCPWGEEQRPGW	PALEINVVPLNHNDCPWGEEQRPGW	8.0	2.0	-	-	4329_17:37263770-37263770 A>T_PALEINVVPLNHNDCPWGEEQRPGW
9:135073594-135073594 A>T	0.0	4329	COLON	-	-	-	-	NTNG2	ENST00000393228,p.E152V|ENST00000360670,p.E152V|NM_032536,p.E152V|uc004cbh.2,p.E152V|ENST00000393229,p.E152V|ENST00000372179,p.E152V	protein_coding, processed_transcript	uc004cbh.2	nonsynonymous SNV	exon3	c.A455T	p.E152V	TFEYGRPTVMVLEKSLDNGRTWQPY	TFEYGRPTVMVLVKSLDNGRTWQPY	3.0	3.0	-	-	4329_9:135073594-135073594 A>T_TFEYGRPTVMVLVKSLDNGRTWQPY
5:127668648-127668648 C>A	0.0	4329	COLON	-	-	-	-	FBN2	ENST00000507835,p.C243F|uc003kuv.2,p.C1360F|ENST00000262464,p.C1393F|ENST00000508053,p.C1393F|NM_001999,p.C1393F|uc003kuu.3,p.C1393F|ENST00000508989,p.C1360F	retained_intron, protein_coding, processed_transcript	uc003kuv.2	nonsynonymous SNV	exon31	c.G4079T	p.C1360F	HASCLNIPGSFKCSCREGWIGNGIK	HASCLNIPGSFKFSCREGWIGNGIK	3.0	3.0	-	-	4329_5:127668648-127668648 C>A_HASCLNIPGSFKFSCREGWIGNGIK
7:154862986-154862986 C>T	0.0	4329	COLON	-	-	-	-	HTR5A	uc003wlt.2,p.V10M|ENST00000543018,p.V10M|ENST00000395731,p.V10M|uc011kvt.1,p.V10M	protein_coding, processed_transcript	uc011kvt.1	nonsynonymous SNV	exon1	c.G28A	p.V10M	MAVTFQMLAVQQSTSHAIQSWH	MAVTFQMLAMQQSTSHAIQSWH	1.0	6.0	-	-	4329_7:154862986-154862986 C>T_MAVTFQMLAMQQSTSHAIQSWH
19:49929902-49929902 T>A	0.0	4329	COLON	-	-	-	-	GFY	ENST00000576655,p.L72Q|NM_001195256,p.L72Q|uc021uxm.1,p.L72Q	protein_coding	uc021uxm.1	nonsynonymous SNV	exon1	c.T215A	p.L72Q	EFPGTPYPEPSKLPHTVSLETFPLD	EFPGTPYPEPSKQPHTVSLETFPLD	1.0	4.0	-	-	4329_19:49929902-49929902 T>A_EFPGTPYPEPSKQPHTVSLETFPLD
4:73414382-73414382 G>A	0.0	4329	COLON	-	-	-	-	ADAMTS3	uc003hgk.2,p.A106V|NM_014243,p.A106V|ENST00000286657,p.A106V	protein_coding, processed_transcript	uc003hgk.2	nonsynonymous SNV	exon3	c.C317T	p.A106V	RLKPNTQLVAPGAVVEWHETSLVPG	RLKPNTQLVAPGVVVEWHETSLVPG	3.0	4.0	-	-	4329_4:73414382-73414382 G>A_RLKPNTQLVAPGVVVEWHETSLVPG
10:21806054-21806062 GCGGCGGCG>-	0.0	4329	COLON	-	-	-	-	SKIDA1	uc009xkd.3,p.230_233del|uc021pnx.1,p.230_233del|ENST00000449193,p.230_233del|NM_207371,p.230_233del	protein_coding, processed_transcript	uc021pnx.1	nonframeshift deletion	exon1	c.690_698del	p.230_233del	LCSKHPAAAAAAAAAAAAAAAAAAA	LCSKHPAAAAAAAAAAAAAAAAAAY	1.0	6.0	unscreened	-	4329_10:21806054-21806062 GCGGCGGCG>-_LCSKHPAAAAAAAAAAAAAAAAAAY
15:55839065-55839065 C>T	0.0	4329	COLON	-	-	-	-	PYGO1	ENST00000563719,p.G139D|NM_015617,p.G139D|uc002adf.1,p.G139D|uc010bfl.1,p.G139D|ENST00000302000,p.G139D	protein_coding	uc010bfl.1	nonsynonymous SNV	exon3	c.G416A	p.G139D	QPHPFPQNPLGMGFNRPHAFNFGPH	QPHPFPQNPLGMDFNRPHAFNFGPH	2.0	7.0	-	-	4329_15:55839065-55839065 C>T_QPHPFPQNPLGMDFNRPHAFNFGPH
2:175437007-175437007 C>T	1.0	4329	COLON	-	-	-	-	WIPF1	uc002uiz.3,p.V176M|ENST00000359761,p.V176M|uc010fqt.1,p.V176M|NM_003387,p.V176M|ENST00000392547,p.V176M|uc010zep.1,p.V176M|uc002ujb.2,p.V176M|uc002ujc.1,p.V176M|uc002uja.3,p.V176M|NM_001077269,p.V176M|ENST00000272746,p.V176M|ENST00000409415,p.V176M|ENST00000409891,p.V176M|ENST00000392546,p.V176M	retained_intron, protein_coding, processed_transcript	uc010zep.1	nonsynonymous SNV	exon5	c.G526A	p.V176M	PQRNRMPPPRPDVGSKPDSIPPPVP	PQRNRMPPPRPDMGSKPDSIPPPVP	5.0	6.0	-	-	4329_2:175437007-175437007 C>T_PQRNRMPPPRPDMGSKPDSIPPPVP
19:36214800-36214800 G>T	1.0	4329	COLON	-	-	-	-	KMT2B	NM_014727,p.A1076S|ENST00000420124,p.A1076S|uc021usv.1,p.A1076S|ENST00000222270,p.A1076S	-	uc021usv.1	nonsynonymous SNV	exon8	c.G3226T	p.A1076S	PEEQDSLLQRKSARRCVKQRPSYDI	PEEQDSLLQRKSSRRCVKQRPSYDI	1.0	8.0	-	-	4329_19:36214800-36214800 G>T_PEEQDSLLQRKSSRRCVKQRPSYDI
12:53205701-53205701 G>T	1.0	4329	COLON	-	-	-	-	KRT4	ENST00000458244,p.Q155K|ENST00000293774,p.Q249K|uc031qhk.1,p.Q175K|ENST00000551956,p.Q175K|NM_002272,p.Q175K	retained_intron, protein_coding, nonsense_mediated_decay	uc031qhk.1	nonsynonymous SNV	exon2	c.C523A	p.Q175K	KVLETKWNLLQQQTTTTSSKNLEPL	KVLETKWNLLQQKTTTTSSKNLEPL	4.0	2.0	-	-	4329_12:53205701-53205701 G>T_KVLETKWNLLQQKTTTTSSKNLEPL
10:135053475-135053475 C>T	0.0	4329	COLON	-	-	-	-	VENTX	ENST00000325980,p.R148W|NM_014468,p.R148W|uc010quy.1,p.R148W	protein_coding	uc010quy.1	nonsynonymous SNV	exon3	c.C442T	p.R148W	KTWFQNRRMKHKRQMQDPQLHSPFS	KTWFQNRRMKHKWQMQDPQLHSPFS	1.0	6.0	-	-	4329_10:135053475-135053475 C>T_KTWFQNRRMKHKWQMQDPQLHSPFS
7:148768994-148768994 C>A	0.0	4329	COLON	-	-	-	-	ZNF786	NM_152411,p.Q290H|uc003wfi.2,p.Q204H|ENST00000491431,p.Q290H|ENST00000316286,p.Q204H|uc003wfh.2,p.Q290H|uc011kuk.1,p.Q253H|ENST00000451334,p.Q253H	protein_coding	uc011kuk.1	nonsynonymous SNV	exon5	c.G759T	p.Q253H	RHELTHPSHRLPQQGEKPAQCTPCG	RHELTHPSHRLPHQGEKPAQCTPCG	5.0	3.0	-	-	4329_7:148768994-148768994 C>A_RHELTHPSHRLPHQGEKPAQCTPCG
1:86891129-86891129 ->AGCAAAAT	0.0	4329	COLON	-	-	-	-	CLCA2	NM_006536,p.N98fs|ENST00000370565,p.N98fs|uc001dlr.4,p.N98fs	protein_coding, processed_transcript	uc001dlr.4	frameshift insertion	exon2	c.294_295insAGCAAAAT	p.N98fs	KILIPATWKANNNSKIKQESYEKAN	KILIPATWKANNNSKIAK	1.0	8.0	-	-	4329_1:86891129-86891129 ->AGCAAAAT_KILIPATWKANNNSKIAK
2:168100576-168100576 G>T	0.0	4329	COLON	-	-	-	-	XIRP2	uc010fpq.3,p.D670Y|ENST00000409195,p.D892Y|uc002udy.3,p.D717Y|NM_001199144,p.D670Y|NM_152381,p.D892Y|ENST00000409273,p.D670Y|ENST00000295237,p.D892Y|uc002udx.3,p.D892Y	protein_coding	uc010fpq.3	nonsynonymous SNV	exon7	c.G2008T	p.D670Y	ETLPIEALKDSPDIGKLQKITASEE	ETLPIEALKDSPYIGKLQKITASEE	1.0	6.0	-	-	4329_2:168100576-168100576 G>T_ETLPIEALKDSPYIGKLQKITASEE
20:61444633-61444633 G>A	1.0	4329	COLON	-	-	-	-	OGFR	uc002ydl.3,p.E504K|uc002ydj.3,p.E556K|ENST00000290291,p.E556K|NM_007346,p.E556K|ENST00000370461,p.E504K|uc002ydk.3,p.E539K	protein_coding	uc002ydl.3	nonsynonymous SNV	exon5	c.G1510A	p.E504K	PRPAGPAGDEPAESPSETPGPRPAG	PRPAGPAGDEPAKSPSETPGPRPAG	9.0	4.0	unscreened	-	4329_20:61444633-61444633 G>A_PRPAGPAGDEPAKSPSETPGPRPAG
8:53852526-53852526 C>A	0.0	4329	COLON	-	-	ID=COSM751212;OCCURENCE=1(lung)	-	NPBWR1	uc011ldu.2,p.A20E|ENST00000331251,p.A20E|NM_005285,p.A20E	protein_coding	uc011ldu.2	nonsynonymous SNV	exon1	c.C59A	p.A20E	EPWPANASGPDPALSCSNASTLAPL	EPWPANASGPDPELSCSNASTLAPL	1.0	5.0	-	-	4329_8:53852526-53852526 C>A_EPWPANASGPDPELSCSNASTLAPL
11:1629410-1629410 G>T	0.0	4329	COLON	-	-	-	-	KRTAP5-3	uc001ltw.1,p.S69Y|NM_001012708,p.S69Y|ENST00000399685,p.S69Y	protein_coding	uc001ltw.1	nonsynonymous SNV	exon1	c.C206A	p.S69Y	CGSCGGSKGVCGSCGGCKGGCGSCG	CGSCGGSKGVCGYCGGCKGGCGSCG	1.0	6.0	unscreened	-	4329_11:1629410-1629410 G>T_CGSCGGSKGVCGYCGGCKGGCGSCG
1:46654571-46654571 A>C	1.0	4335	COLON	-	-	-	-	POMGNT1	uc001cpg.3,p.F689L|ENST00000371986,p.F689L|NM_001243766,p.F689L|ENST00000371992,p.F689L	protein_coding, processed_transcript	uc001cpg.3	nonsynonymous SNV	exon23	c.T2067G	p.F689L	LENRPNLEGLDFFLGWNAALRVGLA	LENRPNLEGLDFLLGWNAALRVGLA	9.0	4.0	-	-	4335_1:46654571-46654571 A>C_LENRPNLEGLDFLLGWNAALRVGLA
1:35881187-35881187 A>T	1.0	4335	COLON	-	-	-	-	ZMYM4	uc001byt.3,p.K1394M|NM_005095,p.K1394M|uc009vuu.3,p.K1362M|uc009vuv.3,p.K1133M|uc001byu.3,p.K1070M|ENST00000373297,p.K1305M|ENST00000314607,p.K1394M	protein_coding, processed_transcript	uc009vuv.3	nonsynonymous SNV	exon27	c.A3398T	p.K1133M	TLLFFNTKYFQLKNVTEHLKLSFAH	TLLFFNTKYFQLMNVTEHLKLSFAH	8.0	2.0	-	-	4335_1:35881187-35881187 A>T_TLLFFNTKYFQLMNVTEHLKLSFAH
6:27115094-27115094 A>G	1.0	4335	COLON	-	-	-	-	HIST1H2AH	ENST00000377459,p.I63V|uc003niz.4,p.I63V|NM_080596,p.I63V	protein_coding	uc003niz.4	nonsynonymous SNV	exon1	c.A187G	p.I63V	YLAAVLEYLTAEILELAGNAARDNK	YLAAVLEYLTAEVLELAGNAARDNK	10.0	9.0	-	-	4335_6:27115094-27115094 A>G_YLAAVLEYLTAEVLELAGNAARDNK
22:25023459-25023459 G>C	1.0	4335	COLON	0.02	rs138813205	ID=COSM1130479;OCCURENCE=1(prostate)	-	GGT1	ENST00000400382,p.D361H|ENST00000412658,p.D361H|uc003aas.1,p.D361H|ENST00000400380,p.D361H|uc003aaw.2,p.D361H|ENST00000404532,p.D17H|uc003aan.1,p.D361H|uc003aax.2,p.D361H|ENST00000406383,p.D361H|uc003aau.2,p.D361H|ENST00000248923,p.D361H|ENST00000403838,p.D17H|uc003aay.1,p.D17H|uc003aat.1,p.D361H|uc003aav.2,p.D361H|ENST00000400383,p.D361H|ENST00000404223,p.D17H|NM_013421,p.D361H|NM_001288833,p.D361H|ENST00000401885,p.D17H|NM_013430,p.D361H|ENST00000404920,p.D17H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003aay.1	nonsynonymous SNV	exon1	c.G49C	p.D17H	FFAAQLRAQISDDTTHPISYYKPEF	FFAAQLRAQISDHTTHPISYYKPEF	10.0	5.0	unscreened	-	4335_22:25023459-25023459 G>C_FFAAQLRAQISDHTTHPISYYKPEF
6:166918057-166918057 A>T	1.0	4335	COLON	-	-	-	-	RPS6KA2	ENST00000405189,p.L79Q|NM_021135,p.L168Q|ENST00000481261,p.L79Q|uc010kkl.1,p.L79Q|uc003qvb.1,p.L168Q|ENST00000507350,p.L79Q|uc011ego.1,p.L79Q|NM_001006932,p.L176Q|ENST00000510118,p.L193Q|ENST00000366863,p.L14Q|uc003qvc.1,p.L176Q|ENST00000265678,p.L168Q|uc003qvd.1,p.L193Q|ENST00000503859,p.L176Q|ENST00000512860,p.L79Q	protein_coding, processed_transcript	uc011ego.1	nonsynonymous SNV	exon6	c.T236A	p.L79Q	FTEEDVKFYLAELALALDHLHSLGI	FTEEDVKFYLAEQALALDHLHSLGI	9.0	5.0	-	-	4335_6:166918057-166918057 A>T_FTEEDVKFYLAEQALALDHLHSLGI
1:35250779-35250779 T>A	1.0	4335	COLON	-	-	-	-	GJB3	NM_001005752,p.L139H|uc001bxz.4,p.L139H|uc001bxx.3,p.L139H|ENST00000373366,p.L139H|ENST00000373362,p.L139H|NM_024009,p.L139H|uc001bxy.3,p.L139H	protein_coding	uc001bxz.4	nonsynonymous SNV	exon1	c.T416A	p.L139H	LWWTYLFSLIFKLIIEFLFLYLLHT	LWWTYLFSLIFKHIIEFLFLYLLHT	8.0	6.0	-	-	4335_1:35250779-35250779 T>A_LWWTYLFSLIFKHIIEFLFLYLLHT
1:25140616-25140616 G>A	1.0	4335	COLON	-	-	-	-	CLIC4	uc001bjp.1,p.G52R|uc001bjo.2,p.G72R|ENST00000488683,p.G72R|NM_013943,p.G72R|ENST00000374379,p.G72R	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bjp.1	nonsynonymous SNV	exon3	c.G154A	p.G52R	KRKPADLQNLAPGTHPPFITFNSEV	KRKPADLQNLAPRTHPPFITFNSEV	10.0	10.0	-	-	4335_1:25140616-25140616 G>A_KRKPADLQNLAPRTHPPFITFNSEV
12:7090260-7090260 C>T	1.0	4335	COLON	-	-	-	-	LPCAT3	uc001qsi.3,p.G195R|ENST00000261407,p.G195R|uc010sfw.2,p.G89R|NM_005768,p.G195R|ENST00000535479,p.G195R|uc009zfq.1,p.G53R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sfw.2	nonsynonymous SNV	exon5	c.G265A	p.G89R	SLLEVAGFSYFYGAFLVGPQFSMNH	SLLEVAGFSYFYRAFLVGPQFSMNH	8.0	7.0	-	-	4335_12:7090260-7090260 C>T_SLLEVAGFSYFYRAFLVGPQFSMNH
20:34297185-34297185 C>A	1.0	4335	COLON	-	-	-	-	RBM39	uc002xeb.3,p.V396F|uc010gfn.3,p.V239F|NM_001242599,p.V374F|ENST00000407261,p.V239F|uc002xeg.3,p.V374F|ENST00000528062,p.V374F|NM_184234,p.V396F|uc010zvn.2,p.V239F|ENST00000253363,p.V396F|uc002xee.3,p.V239F|uc002xed.3,p.V114F|uc002xdz.3,p.V372F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zvn.2	nonsynonymous SNV	exon14	c.G715T	p.V239F	SLAFGAVAEFSFVIDLQTRLSQQTE	SLAFGAVAEFSFFIDLQTRLSQQTE	10.0	3.0	-	-	4335_20:34297185-34297185 C>A_SLAFGAVAEFSFFIDLQTRLSQQTE
14:81953756-81953756 C>G	1.0	4335	COLON	-	-	ID=COSM1225109;OCCURENCE=1(large_intestine)	-	SEL1L	NM_005065,p.R537P|uc010tvv.2,p.R537P|ENST00000336735,p.R537P	retained_intron, protein_coding	uc010tvv.2	nonsynonymous SNV	exon16	c.G1610C	p.R537P	LAQMHASGTGVMRSCHTAVELFKNV	LAQMHASGTGVMPSCHTAVELFKNV	8.0	8.0	-	-	4335_14:81953756-81953756 C>G_LAQMHASGTGVMPSCHTAVELFKNV
14:21873467-21873467 A>G	1.0	4335	COLON	-	-	-	-	CHD8	NM_001170629,p.S1070P|uc001wav.1,p.S233P|ENST00000430710,p.S791P|ENST00000557364,p.S1070P|ENST00000399982,p.S1070P|NM_020920,p.S791P|uc001was.2,p.S791P|uc001war.2,p.S1070P	retained_intron, protein_coding, processed_transcript	uc001wav.1	nonsynonymous SNV	exon6	c.T697C	p.S233P	KKYYRAILEKNFSFLSKGAGHTNMP	KKYYRAILEKNFPFLSKGAGHTNMP	9.0	2.0	-	-	4335_14:21873467-21873467 A>G_KKYYRAILEKNFPFLSKGAGHTNMP
19:54691142-54691142 C>G	1.0	4335	COLON	-	-	-	-	MBOAT7	uc010yem.2,p.W60C|ENST00000245615,p.W78C|ENST00000391754,p.W78C|NM_024298,p.W78C|ENST00000449249,p.W30C|ENST00000453320,p.W78C|NM_001146082,p.W78C|uc002qdr.3,p.W78C|uc002qdt.4,p.W78C|uc002qdq.3,p.W78C|ENST00000414665,p.W78C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010yem.2	nonsynonymous SNV	exon2	c.G180C	p.W60C	AQPCSCHALALAWTFSYLLFFRALS	AQPCSCHALALACTFSYLLFFRALS	6.0	10.0	-	-	4335_19:54691142-54691142 C>G_AQPCSCHALALACTFSYLLFFRALS
11:59382807-59382807 C>A	1.0	4335	COLON	-	-	-	-	OSBP	ENST00000263847,p.V111L|uc001noc.1,p.V111L|NM_002556,p.V111L	retained_intron, protein_coding, nonsense_mediated_decay	uc001noc.1	nonsynonymous SNV	exon1	c.G331T	p.V111L	TNYIKGYQRRWFVLSNGLLSYYRSK	TNYIKGYQRRWFLLSNGLLSYYRSK	7.0	3.0	-	-	4335_11:59382807-59382807 C>A_TNYIKGYQRRWFLLSNGLLSYYRSK
1:26156003-26156003 C>T	1.0	4335	COLON	-	-	-	-	MTFR1L	ENST00000526158,p.S152L|NM_019557,p.S152L|NM_001099626,p.S152L|NM_001099625,p.S152L|ENST00000374301,p.S152L|uc010oet.2,p.S185L|ENST00000374300,p.S152L|uc001bkt.4,p.S152L|uc001bks.4,p.S152L|uc001bkv.4,p.S55L|ENST00000524618,p.S55L|uc001bkq.4,p.S152L|ENST00000374303,p.S152L|ENST00000472643,p.S55L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010oet.2	nonsynonymous SNV	exon6	c.C554T	p.S185L	SQIAKIVAADAASASLTPDFLSPGS	SQIAKIVAADAALASLTPDFLSPGS	9.0	10.0	-	-	4335_1:26156003-26156003 C>T_SQIAKIVAADAALASLTPDFLSPGS
7:116339857-116339857 A>C	1.0	4335	COLON	-	-	-	1	MET	uc011knh.1,p.E240A|uc011kng.1,p.E240A|uc011knb.1,p.E240A|uc003vij.3,p.E240A|NM_000245,p.E240A|NM_001127500,p.E240A|uc011knf.2,p.E240A|uc010lkh.3,p.E240A|ENST00000397752,p.E240A|uc010lkg.3,p.E240A|uc011kna.1,p.E240A|uc011kmz.1,p.E240A|uc022akk.1,p.E240A|uc011knc.1,p.E240A|uc003vii.1,p.E259A|uc011kni.2,p.E240A|uc011knd.2,p.E240A|uc011kne.2,p.E240A|ENST00000318493,p.E240A|ENST00000436117,p.E240A	protein_coding, processed_transcript	uc022akk.1	nonsynonymous SNV	exon2	c.A719C	p.E240A	FLTDQSYIDVLPEFRDSYPIKYVHA	FLTDQSYIDVLPAFRDSYPIKYVHA	9.0	6.0	-	-	4335_7:116339857-116339857 A>C_FLTDQSYIDVLPAFRDSYPIKYVHA
14:77908997-77908997 A>G	1.0	4335	COLON	-	-	-	-	VIPAS39	ENST00000448935,p.F165L|NM_001193316,p.F165L|uc001xtu.2,p.F214L|ENST00000327028,p.F201L|uc001xtv.2,p.F214L|ENST00000557658,p.F214L|uc010tvj.2,p.F165L|uc001xtt.2,p.F214L|NM_001193317,p.F214L|ENST00000343765,p.F214L|NM_001193315,p.F214L|NM_001193314,p.F214L|ENST00000553888,p.F214L|ENST00000556412,p.F240L|uc021rwu.1,p.F214L|NM_022067,p.F214L	retained_intron, protein_coding, processed_transcript	uc021rwu.1	nonsynonymous SNV	exon10	c.T640C	p.F214L	IFLKRTLSKEILFRELEVRQVALRH	IFLKRTLSKEILLRELEVRQVALRH	9.0	4.0	-	-	4335_14:77908997-77908997 A>G_IFLKRTLSKEILLRELEVRQVALRH
7:157159199-157159199 A>C	1.0	4335	COLON	-	-	-	-	DNAJB6	ENST00000412557,p.K60T|ENST00000262177,p.K60T|uc010lqt.3,p.K60T|NM_058246,p.K60T|ENST00000417758,p.K60T|ENST00000453383,p.K60T|ENST00000443280,p.K60T|uc011kvz.2,p.K60T|uc003wnj.3,p.K60T|ENST00000441291,p.K60T|uc003wnl.3,p.K47T|NM_005494,p.K60T|ENST00000429029,p.K60T|uc003wnk.3,p.K60T|ENST00000441561,p.K60T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kvz.2	nonsynonymous SNV	exon4	c.A179C	p.K60T	QVAEAYEVLSDAKKRDIYDKYGKEG	QVAEAYEVLSDATKRDIYDKYGKEG	10.0	2.0	-	-	4335_7:157159199-157159199 A>C_QVAEAYEVLSDATKRDIYDKYGKEG
3:111366465-111366465 T>C	1.0	4335	COLON	-	-	-	-	CD96	uc003dxx.3,p.I518T|uc003dxw.3,p.I534T|NM_198196,p.I534T|ENST00000494798,p.I517T|ENST00000352690,p.I518T|uc010hpy.1,p.I517T|ENST00000283285,p.I534T|NM_005816,p.I518T	protein_coding, nonsense_mediated_decay	uc010hpy.1	nonsynonymous SNV	exon13	c.T1550C	p.I517T	PVIVAALLFCCMILFGLGVRKWCQY	PVIVAALLFCCMTLFGLGVRKWCQY	8.0	4.0	-	-	4335_3:111366465-111366465 T>C_PVIVAALLFCCMTLFGLGVRKWCQY
15:74704293-74704293 T>G	1.0	4335	COLON	-	-	-	-	SEMA7A	ENST00000543145,p.N438T|uc010ull.2,p.N438T|NM_003612,p.N452T|ENST00000542748,p.N287T|ENST00000261918,p.N452T|NM_001146029,p.N438T|uc010ulk.2,p.N287T|uc002axv.3,p.N452T|NM_001146030,p.N287T	retained_intron, protein_coding	uc010ull.2	nonsynonymous SNV	exon10	c.A1313C	p.N438T	VEPGEQEHSFAFNIMEIQPFRRAAA	VEPGEQEHSFAFTIMEIQPFRRAAA	7.0	5.0	-	-	4335_15:74704293-74704293 T>G_VEPGEQEHSFAFTIMEIQPFRRAAA
19:40883902-40883902 A>C	1.0	4335	COLON	-	-	-	-	PLD3	ENST00000409419,p.N432T|uc002onn.3,p.N432T|NM_001291311,p.N432T|uc002onm.4,p.N432T|ENST00000409281,p.N432T|ENST00000409587,p.N432T|ENST00000356508,p.N432T|NM_012268,p.N432T|NM_001031696,p.N432T|ENST00000409735,p.N432T|uc002onj.4,p.N432T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002onn.3	nonsynonymous SNV	exon13	c.A1295C	p.N432T	MVTERATYIGTSNWSGNYFTETAGT	MVTERATYIGTSTWSGNYFTETAGT	10.0	5.0	-	-	4335_19:40883902-40883902 A>C_MVTERATYIGTSTWSGNYFTETAGT
19:49136714-49136714 G>A	1.0	4335	COLON	-	-	-	-	DBP	ENST00000593500,p.P48L|ENST00000599385,p.P48L|NM_001352,p.P250L|uc002pjx.4,p.P250L|ENST00000222122,p.P250L	retained_intron, protein_coding	uc002pjx.4	nonsynonymous SNV	exon3	c.C749T	p.P250L	QPIMKKARKIQVPEEQKDEKYWSRR	QPIMKKARKIQVLEEQKDEKYWSRR	8.0	9.0	unscreened	-	4335_19:49136714-49136714 G>A_QPIMKKARKIQVLEEQKDEKYWSRR
11:128839916-128839916 C>A	1.0	4335	COLON	-	-	-	-	ARHGAP32	uc001qez.3,p.G1368V|ENST00000392657,p.G1368V|uc009zco.3,p.G676V|ENST00000527272,p.G1368V|ENST00000310343,p.G1717V|uc009zcp.3,p.G1717V|NM_014715,p.G1368V|NM_001142685,p.G1717V	retained_intron, protein_coding	uc009zcp.3	nonsynonymous SNV	exon22	c.G5150T	p.G1717V	AGLAPRPRANVTGYFSPNDHNVVSM	AGLAPRPRANVTVYFSPNDHNVVSM	8.0	3.0	unscreened	-	4335_11:128839916-128839916 C>A_AGLAPRPRANVTVYFSPNDHNVVSM
8:104312488-104312488 G>T	1.0	4335	COLON	-	-	-	-	FZD6	ENST00000521195,p.Q51H	protein_coding, nonsense_mediated_decay	ENST00000521195	nonsynonymous SNV	exon1	c.G153T	p.Q51H	MTFFPNLMGHYDQSIAAVEMEGTQT	MTFFPNLMGHYDHSIAAVEMEGTQT	7.0	10.0	unscreened	-	4335_8:104312488-104312488 G>T_MTFFPNLMGHYDHSIAAVEMEGTQT
19:49136714-49136714 G>A	1.0	4335	COLON	-	-	-	-	DBP	uc010elz.1,p.P250L|ENST00000601104,p.P250L	retained_intron, protein_coding	uc010elz.1	nonsynonymous SNV	exon3	c.C749T	p.P250L	QPIMKKARKIQVPEEQKVSRAGCGR	QPIMKKARKIQVLEEQKVSRAGCGR	8.0	9.0	unscreened	-	4335_19:49136714-49136714 G>A_QPIMKKARKIQVLEEQKVSRAGCGR
8:104312488-104312488 G>T	1.0	4335	COLON	-	-	-	-	FZD6	ENST00000519011,p.Q51H	protein_coding, nonsense_mediated_decay	ENST00000519011	nonsynonymous SNV	exon2	c.G153T	p.Q51H	MTFFPNLMGHYDQSIAAVEMEL	MTFFPNLMGHYDHSIAAVEMEL	7.0	10.0	unscreened	-	4335_8:104312488-104312488 G>T_MTFFPNLMGHYDHSIAAVEMEL
14:35487969-35487969 T>G	1.0	4335	COLON	-	-	-	-	SRP54	ENST00000555557,p.L285V|ENST00000556994,p.L349V|NM_003136,p.L349V|uc001wso.3,p.L349V|uc010tpq.2,p.L285V|NM_001146282,p.L300V|ENST00000216774,p.L349V|uc010tpp.2,p.L300V|ENST00000546080,p.L300V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tpq.2	nonsynonymous SNV	exon12	c.T853G	p.L285V	QNIMKMGPFSQILGMIPGFGTDFMS	QNIMKMGPFSQIVGMIPGFGTDFMS	8.0	1.0	-	-	4335_14:35487969-35487969 T>G_QNIMKMGPFSQIVGMIPGFGTDFMS
8:104312488-104312488 G>T	1.0	4335	COLON	-	-	-	-	FZD6	NM_003506,p.Q51H|ENST00000523739,p.Q19H|ENST00000522566,p.Q51H|NM_001164616,p.Q19H|NM_001164615,p.Q51H|ENST00000358755,p.Q51H|uc003ylj.3,p.Q51H|ENST00000523933,p.Q19H|ENST00000522484,p.Q51H|uc011lhn.2,p.Q19H|uc003ylh.3,p.Q51H	protein_coding, nonsense_mediated_decay	uc011lhn.2	nonsynonymous SNV	exon3	c.G57T	p.Q19H	MTFFPNLMGHYDQSIAAVEMEHFLP	MTFFPNLMGHYDHSIAAVEMEHFLP	7.0	10.0	unscreened	-	4335_8:104312488-104312488 G>T_MTFFPNLMGHYDHSIAAVEMEHFLP
15:75657006-75657006 G>T	0.0	4335	COLON	-	-	-	-	MAN2C1	ENST00000569355,p.A174D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000569355	nonsynonymous SNV	exon6	c.C521A	p.A174D	SPASASLLAEITASLSMWK	SPASASLLAEITDSLSMWK	10.0	4.0	unscreened	-	4335_15:75657006-75657006 G>T_SPASASLLAEITDSLSMWK
4:10105541-10105541 C>T	1.0	4335	COLON	-	-	-	-	WDR1	uc021xlv.1,p.G70R|ENST00000382452,p.G70R|NM_017491,p.G70R|ENST00000508079,p.G74R|ENST00000499869,p.G70R	retained_intron, protein_coding, processed_transcript	uc021xlv.1	nonsynonymous SNV	exon3	c.G208A	p.G70R	AHQVVVAKYAPSGFYIASGDVSGKL	AHQVVVAKYAPSRFYIASGDVSGKL	10.0	8.0	-	-	4335_4:10105541-10105541 C>T_AHQVVVAKYAPSRFYIASGDVSGKL
11:113934314-113934314 G>T	0.0	4335	COLON	-	-	-	1	ZBTB16	uc001poq.3,p.D98Y|uc001poo.1,p.D98Y|ENST00000335953,p.D98Y|ENST00000392996,p.D98Y|uc001pop.3,p.D98Y|NM_001018011,p.D98Y|ENST00000535700,p.D98Y|ENST00000544220,p.D98Y|NM_006006,p.D98Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001poq.3	nonsynonymous SNV	exon2	c.G292T	p.D98Y	YAYTATLQAKAEDLDDLLYAAEILE	YAYTATLQAKAEYLDDLLYAAEILE	10.0	9.0	-	-	4335_11:113934314-113934314 G>T_YAYTATLQAKAEYLDDLLYAAEILE
1:227834345-227834345 A>G	1.0	4335	COLON	-	-	-	-	ZNF678	ENST00000440339,p.E75G|NM_178549,p.E75G|ENST00000397097,p.E75G|uc021pjy.1,p.E75G	protein_coding, processed_transcript	uc021pjy.1	nonsynonymous SNV	exon3	c.A224G	p.E75G	PAQRNLYRDVMFENYRNLVSLAILS	PAQRNLYRDVMFGNYRNLVSLAILS	10.0	2.0	-	-	4335_1:227834345-227834345 A>G_PAQRNLYRDVMFGNYRNLVSLAILS
16:11935835-11935835 C>T	1.0	4335	COLON	-	-	-	-	RSL1D1	uc010buv.1,p.G220R|uc002dbp.1,p.G220R|NM_015659,p.G220R	retained_intron, protein_coding, nonsense_mediated_decay	uc010buv.1	nonsynonymous SNV	exon6	c.G658A	p.G220R	SGSCSAIRIGHVGMQIEHIIENIVA	SGSCSAIRIGHVRMQIEHIIENIVA	10.0	7.0	CD8	-	4335_16:11935835-11935835 C>T_SGSCSAIRIGHVRMQIEHIIENIVA
9:131349916-131349916 C>T	1.0	4335	COLON	-	-	-	-	SPTAN1	uc004bvl.4,p.S937L|uc011mbg.2,p.S937L|NM_001195532,p.S937L|ENST00000372739,p.S937L|uc011mbh.2,p.S949L|ENST00000372731,p.S937L|uc004bvn.4,p.S937L|NM_003127,p.S937L|uc004bvm.4,p.S937L|NM_001130438,p.S937L|ENST00000358161,p.S937L	protein_coding, processed_transcript	uc011mbh.2	nonsynonymous SNV	exon21	c.C2846T	p.S949L	AEALLKKHEALMSDLSAYGSSIQAL	AEALLKKHEALMLDLSAYGSSIQAL	10.0	10.0	-	-	4335_9:131349916-131349916 C>T_AEALLKKHEALMLDLSAYGSSIQAL
12:420076-420076 T>G	1.0	4335	COLON	-	-	-	1	KDM5A	uc010sdn.1,p.K1023T|NM_001042603,p.K1064T|uc001qif.1,p.K1064T|ENST00000382815,p.K1064T|ENST00000399788,p.K1064T|ENST00000544760,p.K683T	retained_intron, protein_coding, processed_transcript	uc010sdn.1	nonsynonymous SNV	exon20	c.A3068C	p.K1023T	AWRERTGRTFLKKNSSHTLLQVLSP	AWRERTGRTFLKTNSSHTLLQVLSP	9.0	2.0	-	-	4335_12:420076-420076 T>G_AWRERTGRTFLKTNSSHTLLQVLSP
22:25023444-25023444 G>T	1.0	4335	COLON	-	-	ID=COSM1130480;OCCURENCE=1(prostate)	-	GGT1	uc003aav.2,p.A356S|NM_013421,p.A356S|ENST00000248923,p.A356S|uc003aas.1,p.A356S|ENST00000412658,p.A356S|uc003aat.1,p.A356S|uc003aax.2,p.A356S|uc003aau.2,p.A356S|NM_013430,p.A356S|NM_001288833,p.A356S|ENST00000406383,p.A356S|uc003aan.1,p.A356S|ENST00000400382,p.A356S|ENST00000400383,p.A356S|ENST00000400380,p.A356S|uc003aaw.2,p.A356S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003aax.2	nonsynonymous SNV	exon12	c.G1066T	p.A356S	NMTSEFFAAQLRAQISDDTTHPISY	NMTSEFFAAQLRSQISDDTTHPISY	10.0	8.0	unscreened	-	4335_22:25023444-25023444 G>T_NMTSEFFAAQLRSQISDDTTHPISY
7:129349032-129349032 A>T	1.0	4335	COLON	-	-	-	-	NRF1	uc003voz.3,p.N242Y|ENST00000223190,p.N242Y|NM_001293164,p.N81Y|uc011kpa.2,p.N81Y|NM_001040110,p.N242Y|ENST00000393230,p.N242Y|ENST00000353868,p.N242Y|uc003vpb.3,p.N242Y|NM_005011,p.N242Y|NM_001293163,p.N242Y|ENST00000393231,p.N242Y|ENST00000311967,p.N242Y|uc003vpa.3,p.N242Y|ENST00000539636,p.N81Y|ENST00000393232,p.N242Y	protein_coding, processed_transcript	uc011kpa.2	nonsynonymous SNV	exon5	c.A241T	p.N81Y	KPIWWPEDIPWANVRSDVRTEEQKQ	KPIWWPEDIPWAYVRSDVRTEEQKQ	8.0	4.0	unscreened	-	4335_7:129349032-129349032 A>T_KPIWWPEDIPWAYVRSDVRTEEQKQ
5:82779396-82779396 C>T	0.0	4335	COLON	-	-	-	-	VCAN	NM_001126336,p.A20V|NM_001164098,p.A20V|NM_001164097,p.A20V|NM_004385,p.A20V|ENST00000342785,p.A20V|ENST00000265077,p.A20V|ENST00000513960,p.A20V|ENST00000513984,p.A20V|uc003kik.3,p.A20V|uc003kii.3,p.A20V|uc010jau.2,p.A20V|ENST00000343200,p.A20V|uc003kij.3,p.A20V|ENST00000502527,p.A20V|uc003kih.4,p.A20V	retained_intron, protein_coding, processed_transcript	uc010jau.2	nonsynonymous SNV	exon2	c.C59T	p.A20V	ILWMCSTLIVTHALHKVKVGKSPPV	ILWMCSTLIVTHVLHKVKVGKSPPV	10.0	10.0	-	-	4335_5:82779396-82779396 C>T_ILWMCSTLIVTHVLHKVKVGKSPPV
9:79441633-79441633 T>C	1.0	4335	COLON	-	-	-	-	PRUNE2	NM_015225,p.K175R|uc004akn.3,p.K175R|uc010mpk.3,p.K175R|ENST00000376718,p.K175R|ENST00000376713,p.K175R	protein_coding, processed_transcript	uc010mpk.3	nonsynonymous SNV	exon5	c.A524G	p.K175R	QLAHRLRGSILFKWMTMESEKISEK	QLAHRLRGSILFRWMTMESEKISEK	8.0	3.0	-	-	4335_9:79441633-79441633 T>C_QLAHRLRGSILFRWMTMESEKISEK
3:52428517-52428517 T>C	0.0	4335	COLON	-	-	-	-	DNAH1	ENST00000420323,p.S3555P|uc003ddv.3,p.S413P|NM_015512,p.S3555P|uc011bef.2,p.S3555P|ENST00000490713,p.S455P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bef.2	nonsynonymous SNV	exon67	c.T10663C	p.S3555P	SEWRYLLSGGSISIMTENPAPDWLS	SEWRYLLSGGSIPIMTENPAPDWLS	9.0	6.0	-	-	4335_3:52428517-52428517 T>C_SEWRYLLSGGSIPIMTENPAPDWLS
9:131395119-131395119 C>G	1.0	4335	COLON	-	-	-	-	SPTAN1	NM_001195532,p.A2373G|uc004bvm.4,p.A2398G|uc004bvl.4,p.A2393G|NM_001130438,p.A2398G|ENST00000372739,p.A2398G|NM_003127,p.A2393G|uc004bvn.4,p.A2373G|ENST00000358161,p.A2398G|ENST00000372731,p.A2393G|uc004bvo.4,p.A160G	protein_coding, processed_transcript	uc004bvo.4	nonsynonymous SNV	exon5	c.C479G	p.A160G	NRDGHVSLQEYMAFMISRETENVKS	NRDGHVSLQEYMGFMISRETENVKS	10.0	4.0	-	-	4335_9:131395119-131395119 C>G_NRDGHVSLQEYMGFMISRETENVKS
9:95480988-95480988 G>A	1.0	4335	COLON	-	-	-	-	BICD2	NM_001003800,p.R647C|ENST00000375512,p.R647C|ENST00000356884,p.R647C|uc004aso.1,p.R647C|uc004asp.1,p.R647C|NM_015250,p.R647C	protein_coding	uc004asp.1	nonsynonymous SNV	exon5	c.C1939T	p.R647C	RDQIKHLQAAVDRTTELSRQRIASQ	RDQIKHLQAAVDCTTELSRQRIASQ	6.0	10.0	-	-	4335_9:95480988-95480988 G>A_RDQIKHLQAAVDCTTELSRQRIASQ
15:42740751-42740751 T>A	1.0	4335	COLON	-	-	-	-	ZNF106	uc001zpx.3,p.E90V|ENST00000565611,p.E47V|uc001zpw.3,p.E862V|uc001zpv.3,p.E47V|uc001zpu.3,p.E47V|ENST00000565948,p.E645V|NM_001284306,p.E47V|ENST00000263805,p.E862V|ENST00000565380,p.E90V|NM_022473,p.E862V|NM_001284307,p.E90V|uc010udh.1,p.E645V	retained_intron, protein_coding, processed_transcript	uc010udh.1	nonsynonymous SNV	exon3	c.A1934T	p.E645V	SSPGLARKRSLSESSVIMDRAPSVY	SSPGLARKRSLSVSSVIMDRAPSVY	9.0	2.0	-	-	4335_15:42740751-42740751 T>A_SSPGLARKRSLSVSSVIMDRAPSVY
6:7585416-7585416 A>C	1.0	4335	COLON	-	-	-	-	DSP	NM_004415,p.I2641L|uc003mxp.1,p.I2641L|ENST00000418664,p.I2042L|ENST00000379802,p.I2641L|uc021yle.1,p.I2198L|uc003mxq.1,p.I2042L|NM_001008844,p.I2042L	retained_intron, protein_coding	uc021yle.1	nonsynonymous SNV	exon24	c.A6592C	p.I2198L	EKISITEGIERGIVDSITGQRLLEA	EKISITEGIERGLVDSITGQRLLEA	10.0	8.0	-	-	4335_6:7585416-7585416 A>C_EKISITEGIERGLVDSITGQRLLEA
8:25257428-25257428 ->T	0.0	4335	COLON	-	-	ID=COSM1456261;OCCURENCE=1(large_intestine)	-	DOCK5	uc003xeg.3,p.A1569fs|ENST00000276440,p.A1569fs|NM_024940,p.A1569fs	retained_intron, protein_coding, nonsense_mediated_decay	uc003xeg.3	frameshift insertion	exon46	c.4707dupT	p.A1569fs	PAVMGGFSNYEKAFFTEKYLQEHPE	PAVMGGFSNYEKAFFYRKVLAGAS	9.0	10.0	-	-	4335_8:25257428-25257428 ->T_PAVMGGFSNYEKAFFYRKVLAGAS
9:125827716-125827716 A>C	1.0	4335	COLON	-	-	-	-	RABGAP1	ENST00000456584,p.Q560H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000456584	nonsynonymous SNV	exon15	c.A1680C	p.Q560H	AHDYFKDTGGDGQDSLYKICKVFHV	AHDYFKDTGGDGHDSLYKICKVFHV	9.0	3.0	unscreened	-	4335_9:125827716-125827716 A>C_AHDYFKDTGGDGHDSLYKICKVFHV
12:108932756-108932756 T>A	0.0	4335	COLON	-	-	-	-	SART3	ENST00000546728,p.E339V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000546728	nonsynonymous SNV	exon7	c.A1016T	p.E339V	ARIQLIFERALVENCLVPDLWIRYR	ARIQLIFERALVVNCLVPDLWIRYR	9.0	2.0	unscreened	-	4335_12:108932756-108932756 T>A_ARIQLIFERALVVNCLVPDLWIRYR
12:108932756-108932756 T>A	0.0	4335	COLON	-	-	-	-	SART3	uc010swz.1,p.E339V|NM_014706,p.E339V|uc001tmz.1,p.E339V|ENST00000546815,p.E357V|uc010swy.1,p.E225V|ENST00000431469,p.E339V|ENST00000228284,p.E339V|uc010swx.1,p.E339V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010swz.1	nonsynonymous SNV	exon7	c.A1016T	p.E339V	ARIQLIFERALVENCLVPDLWIRYS	ARIQLIFERALVVNCLVPDLWIRYS	9.0	2.0	unscreened	-	4335_12:108932756-108932756 T>A_ARIQLIFERALVVNCLVPDLWIRYS
12:133373159-133373159 T>C	1.0	4335	COLON	-	-	-	-	GOLGA3	ENST00000545875,p.D689G|uc001ukz.1,p.D689G|uc001ula.1,p.D689G|uc001ulb.3,p.D689G|NM_005895,p.D689G|ENST00000204726,p.D689G|ENST00000450791,p.D689G|ENST00000537452,p.D689G|ENST00000456883,p.D689G|NM_001172557,p.D689G	retained_intron, protein_coding, processed_transcript	uc001ulb.3	nonsynonymous SNV	exon10	c.A2066G	p.D689G	FEGERERLQRMADSAASLEQQLEQV	FEGERERLQRMAGSAASLEQQLEQV	8.0	7.0	-	-	4335_12:133373159-133373159 T>C_FEGERERLQRMAGSAASLEQQLEQV
6:134493375-134493375 T>A	1.0	4335	COLON	-	-	-	2	SGK1	ENST00000528577,p.I276F|ENST00000475719,p.I204F|uc003qen.4,p.I248F|NM_005627,p.I248F|NM_001143678,p.I262F|NM_001291995,p.I204F|NM_001143677,p.I276F|NM_001143676,p.I343F|ENST00000367858,p.I343F|uc011ecw.2,p.I276F|ENST00000237305,p.I248F|uc011ecv.2,p.I262F|uc011ect.2,p.I238F|uc003qeo.4,p.I343F|ENST00000413996,p.I262F|ENST00000367857,p.I238F|uc011ecu.2,p.I204F	retained_intron, protein_coding, processed_transcript	uc011ecw.2	nonsynonymous SNV	exon8	c.A826T	p.I276F	IVLTDFGLCKENIEHNSTTSTFCGT	IVLTDFGLCKENFEHNSTTSTFCGT	10.0	8.0	-	-	4335_6:134493375-134493375 T>A_IVLTDFGLCKENFEHNSTTSTFCGT
19:7083577-7083577 G>T	1.0	4335	COLON	-	-	-	-	ZNF557	NM_001044388,p.G365V|ENST00000252840,p.G372V|uc002mga.3,p.G372V|uc002mgc.3,p.G372V|ENST00000414706,p.G372V|ENST00000439035,p.G365V|uc002mgb.3,p.G365V|NM_001044387,p.G372V|NM_024341,p.G372V	protein_coding	uc002mgc.3	nonsynonymous SNV	exon8	c.G1115T	p.G372V	SFSLTIHRRIHNGEKSYECSDCGKS	SFSLTIHRRIHNVEKSYECSDCGKS	7.0	5.0	unscreened	-	4335_19:7083577-7083577 G>T_SFSLTIHRRIHNVEKSYECSDCGKS
1:160326901-160326901 G>C	1.0	4335	COLON	-	-	-	-	NCSTN	NM_001290186,p.R484P|uc010pjf.2,p.R484P|ENST00000294785,p.R622P|ENST00000535857,p.R484P|uc010pjg.2,p.R364P|ENST00000368065,p.R364P|ENST00000368063,p.R602P|ENST00000392212,p.R602P|uc001fvx.3,p.R622P|NM_001290184,p.R602P|NM_015331,p.R622P|uc001fvy.3,p.R602P	protein_coding, processed_transcript	uc010pjg.2	nonsynonymous SNV	exon11	c.G1091C	p.R364P	HSNETDRLPRCVRSTARLARALSPA	HSNETDRLPRCVPSTARLARALSPA	10.0	4.0	-	-	4335_1:160326901-160326901 G>C_HSNETDRLPRCVPSTARLARALSPA
9:125827716-125827716 A>C	1.0	4335	COLON	-	-	-	-	RABGAP1	ENST00000373647,p.Q628H|NM_012197,p.Q628H|uc011lzh.2,p.Q628H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lzh.2	nonsynonymous SNV	exon14	c.A1884C	p.Q628H	AHDYFKDTGGDGQDSLYKICKAYSV	AHDYFKDTGGDGHDSLYKICKAYSV	9.0	3.0	-	-	4335_9:125827716-125827716 A>C_AHDYFKDTGGDGHDSLYKICKAYSV
4:7691256-7691256 C>A	0.0	4335	COLON	-	-	-	-	SORCS2	uc003gkb.4,p.P511H|ENST00000329016,p.P339H|NM_020777,p.P511H|uc011bwi.2,p.P339H|ENST00000507866,p.P511H	protein_coding, processed_transcript	uc011bwi.2	nonsynonymous SNV	exon11	c.C1016A	p.P339H	CHLHLHLRWADNPYVSGTVHTKDTA	CHLHLHLRWADNHYVSGTVHTKDTA	7.0	6.0	-	-	4335_4:7691256-7691256 C>A_CHLHLHLRWADNHYVSGTVHTKDTA
12:109614037-109614037 G>C	1.0	4335	COLON	-	-	-	-	ACACB	ENST00000377848,p.S469T|uc001toc.3,p.S469T|ENST00000377854,p.S469T|ENST00000338432,p.S469T|uc001tob.3,p.S469T|NM_001093,p.S469T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001toc.3	nonsynonymous SNV	exon8	c.G1406C	p.S469T	EGGGGKGIRKAESAEDFPILFRQVQ	EGGGGKGIRKAETAEDFPILFRQVQ	10.0	9.0	-	-	4335_12:109614037-109614037 G>C_EGGGGKGIRKAETAEDFPILFRQVQ
22:25023444-25023444 G>T	1.0	4335	COLON	-	-	ID=COSM1130480;OCCURENCE=1(prostate)	-	GGT1	ENST00000425895,p.G363V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000425895	nonsynonymous SNV	exon11	c.G1088T	p.G363V	QHDLRVLRCPAPGPDL	QHDLRVLRCPAPVPDL	10.0	8.0	unscreened	-	4335_22:25023444-25023444 G>T_QHDLRVLRCPAPVPDL
11:128839917-128839917 C>A	1.0	4335	COLON	-	-	-	-	ARHGAP32	NM_001142685,p.G1717C|NM_014715,p.G1368C|ENST00000527272,p.G1368C|uc001qez.3,p.G1368C|uc009zcp.3,p.G1717C|ENST00000392657,p.G1368C|uc009zco.3,p.G676C|ENST00000310343,p.G1717C	retained_intron, protein_coding	uc009zcp.3	nonsynonymous SNV	exon22	c.G5149T	p.G1717C	AGLAPRPRANVTGYFSPNDHNVVSM	AGLAPRPRANVTCYFSPNDHNVVSM	8.0	3.0	unscreened	-	4335_11:128839917-128839917 C>A_AGLAPRPRANVTCYFSPNDHNVVSM
1:155658018-155658018 G>A	0.0	4335	COLON	-	-	-	-	YY1AP1	uc010pgi.2,p.L80F|ENST00000368339,p.L80F|uc009wqx.3,p.L80F|ENST00000368340,p.L80F|uc001flh.3,p.L80F|NM_001198903,p.L80F|NM_001198904,p.L80F|uc010pgk.2,p.L80F|ENST00000405763,p.L80F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010pgk.2	nonsynonymous SNV	exon1	c.C238T	p.L80F	SSQFAPLALHLSLLLSRISASRLTR	SSQFAPLALHLSFLLSRISASRLTR	10.0	9.0	-	-	4335_1:155658018-155658018 G>A_SSQFAPLALHLSFLLSRISASRLTR
10:119134252-119134252 C>G	1.0	4335	COLON	-	-	-	-	PDZD8	ENST00000334464,p.V163L|uc001lde.1,p.V163L|NM_173791,p.V163L	protein_coding, processed_transcript	uc001lde.1	nonsynonymous SNV	exon1	c.G487C	p.V163L	GETVPFIKTIRLVRPVVPSATGEPD	GETVPFIKTIRLLRPVVPSATGEPD	7.0	5.0	-	-	4335_10:119134252-119134252 C>G_GETVPFIKTIRLLRPVVPSATGEPD
19:50027940-50027940 T>C	1.0	4335	COLON	-	-	-	-	FCGRT	uc002poh.2,p.S120P|ENST00000426395,p.S260P|ENST00000221466,p.S260P|ENST00000596975,p.S168P|NM_004107,p.S260P|uc002poe.2,p.S260P|uc002pog.2,p.S260P|uc002pof.2,p.S165P|NM_001136019,p.S260P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002poh.2	nonsynonymous SNV	exon2	c.T358C	p.S120P	DFGPNSDGSFHASSSLTVKSGDEHH	DFGPNSDGSFHAPSSLTVKSGDEHH	10.0	2.0	-	-	4335_19:50027940-50027940 T>C_DFGPNSDGSFHAPSSLTVKSGDEHH
15:75657006-75657006 G>T	0.0	4335	COLON	-	-	-	-	MAN2C1	ENST00000561615,p.S157R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000561615	nonsynonymous SNV	exon6	c.C471A	p.S157R	FSCLSFPSSRDYSLTLYVEVACNGL	FSCLSFPSSRDYRLTLYVEVACNGL	10.0	4.0	unscreened	-	4335_15:75657006-75657006 G>T_FSCLSFPSSRDYRLTLYVEVACNGL
10:70856957-70856957 A>C	0.0	4335	COLON	-	-	-	-	SRGN	uc001joz.3,p.K66T|NM_002727,p.K66T|ENST00000242465,p.K66T	protein_coding, processed_transcript	uc001joz.3	nonsynonymous SNV	exon2	c.A197C	p.K66T	GPMFELLPGESNKIPRLRTDLFPKT	GPMFELLPGESNTIPRLRTDLFPKT	10.0	3.0	-	-	4335_10:70856957-70856957 A>C_GPMFELLPGESNTIPRLRTDLFPKT
3:195514144-195514144 T>C	1.0	4335	COLON	-	rs76816122	-	2	MUC4	ENST00000475231,p.D1436G|uc021xjp.1,p.D1436G|NM_018406,p.D1436G|ENST00000470451,p.D1436G|ENST00000478156,p.D1436G|ENST00000479406,p.D1436G|ENST00000463781,p.D1436G|ENST00000477086,p.D1436G|ENST00000477756,p.D1436G|ENST00000466475,p.D1436G|ENST00000480843,p.D1436G|ENST00000462323,p.D1436G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.A4307G	p.D1436G	PLPVTDASSVSTDHATSLPVTIPSA	PLPVTDASSVSTGHATSLPVTIPSA	10.0	7.0	unscreened	-	4335_3:195514144-195514144 T>C_PLPVTDASSVSTGHATSLPVTIPSA
19:42085967-42085967 A>G	0.0	4335	COLON	-	-	-	-	CEACAM21	ENST00000187608,p.K229R|NM_001290113,p.K101R|uc002org.4,p.K229R|NM_033543,p.K229R	protein_coding, processed_transcript, nonsense_mediated_decay	uc002org.4	nonsynonymous SNV	exon3	c.A686G	p.K229R	SNPVSSNRSDPLKLTVKYDNTLGIL	SNPVSSNRSDPLRLTVKYDNTLGIL	7.0	3.0	-	-	4335_19:42085967-42085967 A>G_SNPVSSNRSDPLRLTVKYDNTLGIL
16:87870183-87870183 T>C	1.0	4335	COLON	-	-	-	-	SLC7A5	ENST00000565644,p.N138S|uc002fkm.3,p.N404S|NM_003486,p.N404S|ENST00000261622,p.N404S	retained_intron, protein_coding	uc002fkm.3	nonsynonymous SNV	exon8	c.A1211G	p.N404S	DIFSVINFFSFFNWLCVALAIIGMI	DIFSVINFFSFFSWLCVALAIIGMI	9.0	10.0	-	-	4335_16:87870183-87870183 T>C_DIFSVINFFSFFSWLCVALAIIGMI
16:30727392-30727392 G>C	1.0	4335	COLON	-	-	-	-	SRCAP	uc002dze.1,p.L833F|ENST00000344771,p.L833F|uc021tgn.1,p.L833F|uc002dzg.1,p.L690F|ENST00000262518,p.L833F|NM_006662,p.L833F|ENST00000395059,p.L833F|ENST00000380361,p.L814F	retained_intron, protein_coding, nonsense_mediated_decay	uc021tgn.1	nonsynonymous SNV	exon17	c.G2499C	p.L833F	YNEGLVKRLHKVLRPFLLRRVKVDV	YNEGLVKRLHKVFRPFLLRRVKVDV	9.0	6.0	-	-	4335_16:30727392-30727392 G>C_YNEGLVKRLHKVFRPFLLRRVKVDV
5:71489968-71489968 T>G	0.0	4335	COLON	-	-	-	-	MAP1B	NM_005909,p.C262W|uc003kbw.4,p.C262W|uc010iyx.1,p.C136W|ENST00000511641,p.C279W|uc010iyw.1,p.C279W|ENST00000504492,p.C136W|ENST00000296755,p.C262W|uc010iyy.1,p.C136W	protein_coding, processed_transcript, nonsense_mediated_decay	uc010iyy.1	nonsynonymous SNV	exon4	c.T408G	p.C136W	TSGGFLKLSKPCCYIFPGGRGDSAL	TSGGFLKLSKPCWYIFPGGRGDSAL	7.0	1.0	-	-	4335_5:71489968-71489968 T>G_TSGGFLKLSKPCWYIFPGGRGDSAL
4:146475155-146475155 T>G	1.0	4335	COLON	-	-	-	-	SMAD1	ENST00000515385,p.L406R|uc003ikc.3,p.L406R|ENST00000394092,p.L406R|NM_005900,p.L406R|uc003ikd.3,p.L406R|uc011cic.2,p.L367R|ENST00000302085,p.L406R|uc010iov.3,p.L406R|NM_001003688,p.L406R	retained_intron, protein_coding, processed_transcript	uc011cic.2	nonsynonymous SNV	exon4	c.T1100G	p.L367R	QSVNHGFETVYELTKMCTIRMSFVK	QSVNHGFETVYERTKMCTIRMSFVK	9.0	5.0	-	-	4335_4:146475155-146475155 T>G_QSVNHGFETVYERTKMCTIRMSFVK
2:71577019-71577019 A>C	1.0	4335	COLON	-	-	-	-	ZNF638	NM_001252613,p.N312T|ENST00000409544,p.N312T|uc002shz.3,p.N312T|uc002shw.3,p.N312T|NM_014497,p.N312T|NM_001252612,p.N312T|ENST00000377802,p.N312T|ENST00000355812,p.N312T|uc002shx.3,p.N312T|uc010fec.2,p.N418T|uc002shy.3,p.N312T|ENST00000264447,p.N312T|NM_001014972,p.N312T|uc002sib.1,p.N312T|uc002sia.3,p.N312T	retained_intron, protein_coding, processed_transcript	uc010fec.2	nonsynonymous SNV	exon2	c.A1253C	p.N418T	GGQSVLEPIKSVNQSINQTVSQTMS	GGQSVLEPIKSVTQSINQTVSQTMS	9.0	5.0	-	-	4335_2:71577019-71577019 A>C_GGQSVLEPIKSVTQSINQTVSQTMS
2:145156395-145156395 T>A	0.0	4335	COLON	-	-	-	-	ZEB2	uc010zbm.2,p.N763Y|ENST00000539609,p.N763Y|uc002tvu.3,p.N787Y|ENST00000303660,p.N787Y|uc010fnq.1,p.N816Y|NM_001171653,p.N763Y|NM_014795,p.N787Y|ENST00000409487,p.N787Y|ENST00000558170,p.N787Y|uc002tvv.3,p.N781Y	retained_intron, protein_coding, processed_transcript	uc010zbm.2	nonsynonymous SNV	exon7	c.A2287T	p.N763Y	LDHSRSNTPSPLNLSSTSSKNSHSS	LDHSRSNTPSPLYLSSTSSKNSHSS	10.0	6.0	-	-	4335_2:145156395-145156395 T>A_LDHSRSNTPSPLYLSSTSSKNSHSS
1:156669849-156669849 A>T	0.0	4335	COLON	-	-	-	-	CRABP2	ENST00000368221,p.V129D|uc021pbi.1,p.V129D|NM_001199723,p.V129D|uc001fpr.3,p.V129D|NM_001878,p.V129D|ENST00000368222,p.V129D	protein_coding	uc021pbi.1	nonsynonymous SNV	exon5	c.T386A	p.V129D	DGELILTMTADDVVCTRVYVRE	DGELILTMTADDDVCTRVYVRE	6.0	2.0	-	-	4335_1:156669849-156669849 A>T_DGELILTMTADDDVCTRVYVRE
2:85866435-85866435 A>G	1.0	4335	COLON	-	-	-	-	USP39	uc010fgn.2,p.K402R|uc010fgo.4,p.K402R|NM_001256727,p.K324R|ENST00000409470,p.K402R|ENST00000323701,p.K402R|uc002sqb.4,p.K133R|ENST00000409025,p.K402R|NM_006590,p.K402R|ENST00000409766,p.K402R|NM_001256726,p.K402R|NM_001256728,p.K299R|NM_001256725,p.K402R|uc010ysu.3,p.K324R|ENST00000450066,p.K299R|uc010ysv.3,p.K299R|uc002sqe.4,p.K402R|uc002sqg.4,p.K402R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ysv.3	nonsynonymous SNV	exon8	c.A896G	p.K299R	YLTLDLPTAPLYKDEKEQLIIPQVP	YLTLDLPTAPLYRDEKEQLIIPQVP	9.0	6.0	-	-	4335_2:85866435-85866435 A>G_YLTLDLPTAPLYRDEKEQLIIPQVP
2:33745672-33745672 C>T	0.0	4335	COLON	-	-	ID=COSM1020541;OCCURENCE=1(endometrium)	-	RASGRP3	ENST00000407811,p.R97C|ENST00000437184,p.R97C|uc002roy.3,p.R97C|NM_001139488,p.R97C|NM_170672,p.R97C|ENST00000403687,p.R97C|ENST00000402538,p.R97C|ENST00000423159,p.R97C|NM_015376,p.R97C|uc002rox.3,p.R97C|uc010ync.2,p.R97C|ENST00000444784,p.R97C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ync.2	nonsynonymous SNV	exon6	c.C289T	p.R97C	FPAEFNLDLGLIRMTEEFREVASQL	FPAEFNLDLGLICMTEEFREVASQL	8.0	8.0	-	-	4335_2:33745672-33745672 C>T_FPAEFNLDLGLICMTEEFREVASQL
5:39376851-39376851 T>G	0.0	4335	COLON	-	-	-	-	DAB2	NM_001244871,p.S659R|uc003jlx.3,p.S680R|uc003jlw.3,p.S659R|ENST00000339788,p.S462R|ENST00000320816,p.S680R|ENST00000545653,p.S659R|ENST00000509337,p.S659R|NM_001343,p.S680R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jlx.3	nonsynonymous SNV	exon12	c.A2038C	p.S680R	ARKGEQTSSGTLSAFASYFNSKVGI	ARKGEQTSSGTLRAFASYFNSKVGI	9.0	2.0	-	-	4335_5:39376851-39376851 T>G_ARKGEQTSSGTLRAFASYFNSKVGI
3:44670779-44670779 T>G	0.0	4335	COLON	-	-	-	-	ZNF197	NM_006991,p.F45V|ENST00000383744,p.F45V|uc003cnp.3,p.F45V|ENST00000412641,p.F45V|ENST00000383745,p.F45V|NM_001024855,p.F45V|uc003cnm.3,p.F45V|ENST00000396058,p.F45V|ENST00000334075,p.F45V|uc003cnn.3,p.F45V|ENST00000344387,p.F45V	protein_coding, nonsense_mediated_decay	uc003cnp.3	nonsynonymous SNV	exon2	c.T133G	p.F45V	SSSSVWETSHLHFRQLRYHETSGPQ	SSSSVWETSHLHVRQLRYHETSGPQ	6.0	4.0	-	-	4335_3:44670779-44670779 T>G_SSSSVWETSHLHVRQLRYHETSGPQ
2:84972339-84972339 A>C	0.0	4335	COLON	-	-	-	-	DNAH6	NM_001370,p.K3493T|ENST00000237449,p.K3493T|uc002sot.3,p.K252T|uc010fgb.3,p.K3493T|ENST00000389394,p.K3493T	retained_intron, protein_coding, processed_transcript	uc010fgb.3	nonsynonymous SNV	exon63	c.A10478C	p.K3493T	QDPWSAGLSSFHKLILIKCCKEEKV	QDPWSAGLSSFHTLILIKCCKEEKV	6.0	8.0	-	-	4335_2:84972339-84972339 A>C_QDPWSAGLSSFHTLILIKCCKEEKV
6:46856086-46856086 A>C	0.0	4335	COLON	-	-	-	-	GPR116	uc003oyr.2,p.I105R|uc003oyp.3,p.I105R|ENST00000283296,p.I105R|ENST00000456426,p.I105R|uc003oyq.3,p.I105R|NM_015234,p.I105R|NM_001098518,p.I105R|ENST00000362015,p.I105R|uc003oyo.3,p.I105R|ENST00000265417,p.I105R	protein_coding, processed_transcript	uc003oyr.2	nonsynonymous SNV	exon4	c.T314G	p.I105R	GNNTDQITDILSINVTTVCRPAGNE	GNNTDQITDILSRNVTTVCRPAGNE	8.0	8.0	-	-	4335_6:46856086-46856086 A>C_GNNTDQITDILSRNVTTVCRPAGNE
7:91632448-91632448 G>A	0.0	4335	COLON	-	-	-	2	AKAP9	uc003ulg.3,p.D1073N|NM_147185,p.D1073N|ENST00000358100,p.D1085N|uc003ulf.3,p.D1073N|NM_005751,p.D1073N|uc003uli.3,p.D698N|uc003ule.2,p.D1085N|ENST00000356239,p.D1073N|ENST00000359028,p.D1085N	retained_intron, protein_coding, processed_transcript	uc003uli.3	nonsynonymous SNV	exon1	c.G2092A	p.D698N	VGEESKQEQLILDHLPSVTKESSLR	VGEESKQEQLILNHLPSVTKESSLR	9.0	9.0	-	-	4335_7:91632448-91632448 G>A_VGEESKQEQLILNHLPSVTKESSLR
7:151053265-151053265 A>C	1.0	4335	COLON	-	-	-	-	NUB1	ENST00000566856,p.N217T|ENST00000413040,p.N241T|ENST00000568733,p.N241T|NM_001243351,p.N241T|NM_016118,p.N241T|uc003wjx.3,p.N241T|ENST00000355851,p.N217T|ENST00000468404,p.N217T|ENST00000483358,p.N217T|uc003wjw.4,p.N241T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003wjx.3	nonsynonymous SNV	exon7	c.A722C	p.N241T	VDPEMTPYLDIANQTGRSIRIPPSE	VDPEMTPYLDIATQTGRSIRIPPSE	10.0	4.0	-	-	4335_7:151053265-151053265 A>C_VDPEMTPYLDIATQTGRSIRIPPSE
17:56437563-56437563 T>A	1.0	4335	COLON	-	-	-	1	RNF43	uc002iwg.4,p.D300V|uc010dcw.3,p.D173V|ENST00000581868,p.D173V|ENST00000577625,p.D173V|ENST00000407977,p.D300V|ENST00000500597,p.D259V|NM_017763,p.D300V|uc002iwf.3,p.D300V|ENST00000583753,p.D259V|ENST00000584437,p.D300V|uc002iwh.4,p.D300V|uc010wnv.2,p.D259V|ENST00000577716,p.D300V	retained_intron, protein_coding, processed_transcript	uc010wnv.2	nonsynonymous SNV	exon6	c.A776T	p.D259V	ISCLHEFHRNCVDPWLHQHRTCPLC	ISCLHEFHRNCVVPWLHQHRTCPLC	6.0	10.0	-	-	4335_17:56437563-56437563 T>A_ISCLHEFHRNCVVPWLHQHRTCPLC
5:140798415-140798415 G>A	1.0	4335	COLON	-	-	ID=COSM258614;OCCURENCE=1(large_intestine)	-	PCDHGB7	NM_018927,p.R330Q|uc003lkn.2,p.R330Q|uc003lkm.3,p.R330Q|NM_032101,p.R330Q|ENST00000398594,p.R330Q	protein_coding	uc003lkn.2	nonsynonymous SNV	exon1	c.G989A	p.R330Q	NIEAKDRGSLSTRCKVIVEVVDEND	NIEAKDRGSLSTQCKVIVEVVDEND	6.0	9.0	-	-	4335_5:140798415-140798415 G>A_NIEAKDRGSLSTQCKVIVEVVDEND
19:51650099-51650099 C>G	0.0	4335	COLON	-	-	-	-	SIGLEC7	NM_016543,p.I279M|NM_014385,p.I372M|ENST00000317643,p.I372M|uc002pvw.1,p.I279M|ENST00000305628,p.I279M|uc002pvv.1,p.I372M	retained_intron, protein_coding, nonsense_mediated_decay	uc002pvw.1	nonsynonymous SNV	exon4	c.C837G	p.I279M	GATALVFLSFCVIFIVVRSCRKKSA	GATALVFLSFCVMFIVVRSCRKKSA	8.0	9.0	-	-	4335_19:51650099-51650099 C>G_GATALVFLSFCVMFIVVRSCRKKSA
7:129349030-129349030 C>G	1.0	4335	COLON	-	-	-	-	NRF1	ENST00000393230,p.A241G|ENST00000223190,p.A241G|NM_001293163,p.A241G|NM_001293164,p.A80G|uc003vpa.3,p.A241G|ENST00000353868,p.A241G|uc003vpb.3,p.A241G|ENST00000393232,p.A241G|NM_005011,p.A241G|ENST00000311967,p.A241G|uc003voz.3,p.A241G|NM_001040110,p.A241G|ENST00000539636,p.A80G|ENST00000393231,p.A241G|uc011kpa.2,p.A80G	protein_coding, processed_transcript	uc011kpa.2	nonsynonymous SNV	exon5	c.C239G	p.A80G	CKPIWWPEDIPWANVRSDVRTEEQK	CKPIWWPEDIPWGNVRSDVRTEEQK	8.0	4.0	unscreened	-	4335_7:129349030-129349030 C>G_CKPIWWPEDIPWGNVRSDVRTEEQK
9:113703731-113703731 T>A	0.0	4335	COLON	-	-	-	-	LPAR1	ENST00000541779,p.S256C|ENST00000374430,p.S255C|uc011lwm.2,p.S256C|uc004bfa.3,p.S255C|uc011lwn.2,p.S237C|NM_001401,p.S255C|ENST00000538760,p.S256C|ENST00000374431,p.S255C|uc004bfb.3,p.S255C|NM_057159,p.S255C|uc010mub.3,p.S255C|ENST00000358883,p.S255C|uc011lwo.2,p.S256C|uc004bfc.3,p.S255C	protein_coding	uc011lwo.2	nonsynonymous SNV	exon2	c.A766T	p.S256C	SSGPRRNRDTMMSLLKTVVIVLGAF	SSGPRRNRDTMMCLLKTVVIVLGAF	6.0	3.0	-	-	4335_9:113703731-113703731 T>A_SSGPRRNRDTMMCLLKTVVIVLGAF
6:74498275-74498275 A>T	0.0	4335	COLON	-	-	-	-	CD109	NM_001159587,p.S881C|uc003php.3,p.S881C|ENST00000437994,p.S881C|NM_001159588,p.S804C|uc003phq.3,p.S881C|NM_133493,p.S881C|ENST00000422508,p.S804C|ENST00000287097,p.S881C|uc010kba.3,p.S804C	protein_coding, processed_transcript	uc010kba.3	nonsynonymous SNV	exon21	c.A2410T	p.S804C	TDNRLQSTLKTLSFSFPPNTVTGSE	TDNRLQSTLKTLCFSFPPNTVTGSE	6.0	2.0	-	-	4335_6:74498275-74498275 A>T_TDNRLQSTLKTLCFSFPPNTVTGSE
1:36784695-36784695 T>G	1.0	4335	COLON	-	-	-	-	SH3D21	NM_001162530,p.L265V|uc010oia.1,p.L265V|ENST00000480549,p.L105V|ENST00000505871,p.L154V|ENST00000373139,p.L265V|ENST00000426732,p.L149V|NM_024676,p.L154V|ENST00000453908,p.L265V|uc010oib.1,p.L154V	protein_coding, processed_transcript, nonsense_mediated_decay	uc010oib.1	nonsynonymous SNV	exon8	c.T460G	p.L154V	SRESAPIKEPKKLMPKTSLPTVKKL	SRESAPIKEPKKVMPKTSLPTVKKL	7.0	5.0	-	-	4335_1:36784695-36784695 T>G_SRESAPIKEPKKVMPKTSLPTVKKL
1:82408842-82408842 G>T	0.0	4335	COLON	-	-	-	-	LPHN2	ENST00000370727,p.R196L|uc009wcd.3,p.R196L|NM_001297706,p.R196L|ENST00000359929,p.R196L|uc001dit.4,p.R196L|ENST00000370730,p.R196L|NM_012302,p.R196L|ENST00000370723,p.R196L|NM_001297704,p.R196L|NM_001297705,p.R196L|ENST00000370717,p.R196L|ENST00000370713,p.R196L|ENST00000271029,p.R196L|ENST00000394879,p.R196L|uc001div.3,p.R196L|ENST00000370715,p.R196L|ENST00000370725,p.R196L|uc001diu.3,p.R196L|ENST00000370728,p.R196L|ENST00000370721,p.R200L|ENST00000335786,p.R196L|ENST00000319517,p.R196L	protein_coding, processed_transcript	uc009wcd.3	nonsynonymous SNV	exon5	c.G587T	p.R196L	IEYASLEDFQNSRQTTTYKLPNRVD	IEYASLEDFQNSLQTTTYKLPNRVD	9.0	8.0	-	-	4335_1:82408842-82408842 G>T_IEYASLEDFQNSLQTTTYKLPNRVD
13:32722023-32722023 G>T	0.0	4335	COLON	-	-	-	-	FRY	ENST00000380250,p.G444V|uc001utx.3,p.G444V|NM_023037,p.G444V	protein_coding, processed_transcript, nonsense_mediated_decay	uc001utx.3	nonsynonymous SNV	exon13	c.G1331T	p.G444V	TIITTLFPKGSRGVVPRDMPLNIFV	TIITTLFPKGSRVVVPRDMPLNIFV	7.0	9.0	-	-	4335_13:32722023-32722023 G>T_TIITTLFPKGSRVVVPRDMPLNIFV
19:54313706-54313706 C>T	0.0	4335	COLON	-	-	-	-	NLRP12	uc010eqx.4,p.V403I|uc002qcj.5,p.V403I|ENST00000345770,p.V403I|ENST00000391773,p.V403I|NM_144687,p.V403I|NM_001277126,p.V403I|uc002qch.5,p.V403I|ENST00000391772,p.V403I|ENST00000354278,p.V403I|NM_001277129,p.V403I|uc002qci.5,p.V403I|ENST00000324134,p.V403I|ENST00000535162,p.V403I|ENST00000351894,p.V403I|ENST00000391775,p.V403I	retained_intron, protein_coding	uc010eqx.4	nonsynonymous SNV	exon3	c.G1207A	p.V403I	VRDNEPLFTMCFVPLVCWVVCTCLQ	VRDNEPLFTMCFIPLVCWVVCTCLQ	6.0	9.0	-	-	4335_19:54313706-54313706 C>T_VRDNEPLFTMCFIPLVCWVVCTCLQ
11:129940523-129940523 G>T	0.0	4335	COLON	-	-	-	-	APLP2	NM_001243299,p.G6W|ENST00000278756,p.G6W|uc021qsg.1,p.G6W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qsg.1	nonsynonymous SNV	exon1	c.G16T	p.G6W	MLRAPGELPRQAARCSLC	MLRAPWELPRQAARCSLC	10.0	7.0	-	-	4335_11:129940523-129940523 G>T_MLRAPWELPRQAARCSLC
18:2673307-2673307 A>G	0.0	4335	COLON	-	-	-	-	SMCHD1	uc002klm.4,p.N151S|NM_015295,p.N151S|ENST00000261598,p.N151S|ENST00000320876,p.N151S	retained_intron, protein_coding, nonsense_mediated_decay	uc002klm.4	nonsynonymous SNV	exon4	c.A452G	p.N151S	NPLPFALAELIDNSLSATSRNIGVR	NPLPFALAELIDSSLSATSRNIGVR	8.0	7.0	-	-	4335_18:2673307-2673307 A>G_NPLPFALAELIDSSLSATSRNIGVR
11:63307096-63307096 A>T	1.0	4335	COLON	-	-	-	-	RARRES3	ENST00000255688,p.S40C|ENST00000439013,p.S40C|uc001nxf.4,p.S40C|NM_004585,p.S40C|ENST00000354445,p.S40C	protein_coding, processed_transcript	uc001nxf.4	nonsynonymous SNV	exon2	c.A118T	p.S40C	IGDGYVIHLAPPSEYPGAGSSSVFS	IGDGYVIHLAPPCEYPGAGSSSVFS	10.0	6.0	-	-	4335_11:63307096-63307096 A>T_IGDGYVIHLAPPCEYPGAGSSSVFS
1:38034743-38034743 A>G	1.0	4335	COLON	-	-	-	-	GNL2	ENST00000373062,p.L526P|uc001cbk.3,p.L526P|NM_013285,p.L526P	protein_coding, processed_transcript	uc001cbk.3	nonsynonymous SNV	exon13	c.T1577C	p.L526P	SHCDANTEMQQILTRVRQNFGKINV	SHCDANTEMQQIPTRVRQNFGKINV	10.0	5.0	-	-	4335_1:38034743-38034743 A>G_SHCDANTEMQQIPTRVRQNFGKINV
4:56482536-56482536 G>A	1.0	4335	COLON	-	-	-	-	NMU	uc003hbc.3,p.S63L|ENST00000505262,p.S63L|ENST00000264218,p.S63L|NM_001292046,p.S63L|NM_006681,p.S63L|ENST00000507338,p.S63L	protein_coding, processed_transcript	uc003hbc.3	nonsynonymous SNV	exon3	c.C188T	p.S63L	QLQLWNEIDDTCSSFLSIDSQPQAS	QLQLWNEIDDTCLSFLSIDSQPQAS	6.0	10.0	-	-	4335_4:56482536-56482536 G>A_QLQLWNEIDDTCLSFLSIDSQPQAS
1:11889363-11889363 A>G	1.0	4335	COLON	-	-	ID=COSM3801450;OCCURENCE=1(breast)	-	CLCN6	NM_001256959,p.D389G|ENST00000376487,p.D389G|uc010oat.3,p.D127G|NM_001286,p.D411G|ENST00000376496,p.D411G|uc001ate.5,p.D411G|ENST00000346436,p.D411G|uc010oau.3,p.D389G	protein_coding, processed_transcript	uc010oau.3	nonsynonymous SNV	exon12	c.A1166G	p.D389G	CRQMSSSSQIGNDSFQLQVTEDVNS	CRQMSSSSQIGNGSFQLQVTEDVNS	7.0	6.0	-	-	4335_1:11889363-11889363 A>G_CRQMSSSSQIGNGSFQLQVTEDVNS
14:91252639-91252639 T>G	0.0	4335	COLON	-	-	-	-	TTC7B	NM_001010854,p.K52T|ENST00000328459,p.K52T|uc001xyp.3,p.K52T|ENST00000357056,p.K52T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xyp.3	nonsynonymous SNV	exon2	c.A155C	p.K52T	NDDMAELLLGESKLEQYLKEHPLRQ	NDDMAELLLGESTLEQYLKEHPLRQ	8.0	1.0	-	-	4335_14:91252639-91252639 T>G_NDDMAELLLGESTLEQYLKEHPLRQ
20:35563433-35563433 C>G	0.0	4335	COLON	-	-	-	-	SAMHD1	uc002xgh.2,p.G170R|ENST00000262878,p.G170R|NM_015474,p.G170R	retained_intron, protein_coding	uc002xgh.2	nonsynonymous SNV	exon4	c.G508C	p.G170R	PGASHNRFEHSLGVGYLAGCLVHAL	PGASHNRFEHSLRVGYLAGCLVHAL	10.0	7.0	-	-	4335_20:35563433-35563433 C>G_PGASHNRFEHSLRVGYLAGCLVHAL
1:11298476-11298476 A>T	1.0	4335	COLON	-	-	-	1	MTOR	NM_004958,p.V662D|ENST00000361445,p.V662D|uc001asd.3,p.V662D	protein_coding, processed_transcript	uc001asd.3	nonsynonymous SNV	exon12	c.T1985A	p.V662D	QVVADVLSKLLVVGITDPDPDIRYC	QVVADVLSKLLVDGITDPDPDIRYC	8.0	1.0	-	-	4335_1:11298476-11298476 A>T_QVVADVLSKLLVDGITDPDPDIRYC
19:11552095-11552095 G>A	1.0	4335	COLON	-	-	-	-	PRKCSH	uc002mrt.3,p.A131T|NM_001289102,p.A131T|NM_001001329,p.A131T|uc002mrv.1,p.A131T|ENST00000589838,p.A131T|NM_001289103,p.A131T|ENST00000252455,p.A131T|ENST00000591462,p.A131T|NM_001289104,p.A131T|ENST00000593101,p.A131T|uc010dyb.3,p.A131T|uc002mru.3,p.A131T|ENST00000589126,p.A131T|NM_002743,p.A131T|ENST00000592741,p.A131T|ENST00000412601,p.A131T|ENST00000587327,p.A131T|uc010xlz.2,p.A131T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xlz.2	nonsynonymous SNV	exon6	c.G391A	p.A131T	KGRKERESLQQMAEVTREGFRLKKI	KGRKERESLQQMTEVTREGFRLKKI	10.0	9.0	-	-	4335_19:11552095-11552095 G>A_KGRKERESLQQMTEVTREGFRLKKI
17:7578449-7578449 C>T	1.0	4335	COLON	-	-	ID=COSM249094,COSM2744887,COSM249095,COSM249097,COSM249096,COSM3378356,COSM10739;OCCURENCE=1(ovary),1(endometrium),1(small_intestine),1(breast),1(skin),1(prostate),13(large_intestine),3(urinary_tract),2(liver),2(pancreas),3(central_nervous_system),4(stomach),3(oesophagus),3(upper_aerodigestive_tract),1(meninges),1(thyroid),7(lung),1(peritoneum),3(haematopoietic_and_lymphoid_tissue)	1	TP53	ENST00000359597,p.A161T|NM_001276761,p.A122T|uc002gio.3,p.A29T|uc031qyq.1,p.A122T|NM_001126117,p.A29T|NM_001126115,p.A29T|NM_001126113,p.A161T|NM_001276696,p.A122T|uc002gih.3,p.A161T|uc010vug.3,p.A122T|uc002gin.3,p.A68T|uc002gig.1,p.A161T|ENST00000269305,p.A161T|ENST00000455263,p.A161T|ENST00000445888,p.A161T|ENST00000514944,p.A68T|ENST00000413465,p.A161T|NM_001126112,p.A161T|NM_001126118,p.A122T|ENST00000420246,p.A161T|NM_001276695,p.A122T|NM_001126114,p.A161T|NM_000546,p.A161T|uc002gij.3,p.A122T|NM_001276760,p.A122T|ENST00000509690,p.A29T|NM_001126116,p.A29T	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon4	c.G364A	p.A122T	STPPPGTRVRAMAIYKQSQHMTEVV	STPPPGTRVRAMTIYKQSQHMTEVV	9.0	10.0	-	-	4335_17:7578449-7578449 C>T_STPPPGTRVRAMTIYKQSQHMTEVV
X:107170119-107170119 A>G	0.0	4335	COLON	-	-	-	-	MID2	ENST00000443968,p.H645R|uc004enk.3,p.H645R|NM_052817,p.H645R|ENST00000262843,p.H675R|uc004enl.3,p.H675R|NM_012216,p.H675R	retained_intron, protein_coding	uc004enl.3	nonsynonymous SNV	exon10	c.A2024G	p.H675R	NMLSFYDPANSLHLHTFDVTFILPV	NMLSFYDPANSLRLHTFDVTFILPV	6.0	4.0	-	-	4335_X:107170119-107170119 A>G_NMLSFYDPANSLRLHTFDVTFILPV
6:158882754-158882754 T>A	1.0	4335	COLON	-	-	-	-	TULP4	NM_020245,p.L340H|uc003qrg.3,p.L340H|ENST00000367097,p.L340H|NM_001007466,p.L340H|uc003qrf.3,p.L340H|ENST00000367094,p.L340H|uc011efo.2,p.L340H	protein_coding	uc011efo.2	nonsynonymous SNV	exon6	c.T1019A	p.L340H	NVRGEHIFTLDTLVQRPIISICWGH	NVRGEHIFTLDTHVQRPIISICWGH	7.0	5.0	-	-	4335_6:158882754-158882754 T>A_NVRGEHIFTLDTHVQRPIISICWGH
15:75657006-75657006 G>T	0.0	4335	COLON	-	-	-	-	MAN2C1	uc010bkk.4,p.S141R|ENST00000565683,p.S141R|uc002bag.4,p.S141R|ENST00000568374,p.S99R|uc002baf.4,p.S141R|ENST00000563622,p.S141R|NM_001256494,p.S141R|ENST00000566256,p.S128R|ENST00000267978,p.S141R|ENST00000421803,p.S141R|uc002bah.4,p.S141R|ENST00000570257,p.S24R|ENST00000569482,p.S141R|NM_001256495,p.S141R|NM_006715,p.S141R|NM_001256496,p.S141R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bkk.4	nonsynonymous SNV	exon5	c.C423A	p.S141R	VLTDRLGERDPRSLTLYVEVACNGL	VLTDRLGERDPRRLTLYVEVACNGL	10.0	4.0	unscreened	-	4335_15:75657006-75657006 G>T_VLTDRLGERDPRRLTLYVEVACNGL
2:109380778-109380778 C>G	1.0	4335	COLON	-	-	-	1	RANBP2	NM_006267,p.D1261E|uc002tem.4,p.D1261E|ENST00000283195,p.D1261E	retained_intron, protein_coding, nonsense_mediated_decay	uc002tem.4	nonsynonymous SNV	exon20	c.C3783G	p.D1261E	SPDMKLTPNAGSDRSFVWHALDYAD	SPDMKLTPNAGSERSFVWHALDYAD	10.0	9.0	-	-	4335_2:109380778-109380778 C>G_SPDMKLTPNAGSERSFVWHALDYAD
21:47552146-47552146 T>G	0.0	4335	COLON	-	-	-	-	COL6A2	uc002zia.1,p.F914V|NM_001849,p.F914V|ENST00000300527,p.F914V	retained_intron, protein_coding, processed_transcript	uc002zia.1	nonsynonymous SNV	exon28	c.T2740G	p.F914V	HEALETTQYLNSFSHVGAGVVHAIN	HEALETTQYLNSVSHVGAGVVHAIN	10.0	1.0	-	-	4335_21:47552146-47552146 T>G_HEALETTQYLNSVSHVGAGVVHAIN
19:46280660-46280660 A>T	0.0	4335	COLON	-	-	-	-	DMPK	NM_001081560,p.D357E|uc002pdf.1,p.D357E|uc002pdi.1,p.D383E|uc002pdh.1,p.D357E|uc010xxt.1,p.D357E|NM_001081563,p.D367E|ENST00000343373,p.D367E|NM_001081562,p.D357E|ENST00000291270,p.D357E|NM_004409,p.D357E|ENST00000354227,p.D357E|ENST00000600757,p.D367E|NM_001288766,p.D357E|NM_001288764,p.D383E|ENST00000458663,p.D357E|uc002pde.1,p.D367E|NM_001288765,p.D268E|uc002pdg.1,p.D357E|uc002pdd.1,p.D367E|ENST00000447742,p.D357E|uc010xxs.1,p.D268E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xxt.1	nonsynonymous SNV	exon8	c.T1071A	p.D357E	DGLRDSVPPFTPDFEGATDTCNFDL	DGLRDSVPPFTPEFEGATDTCNFDL	9.0	7.0	-	-	4335_19:46280660-46280660 A>T_DGLRDSVPPFTPEFEGATDTCNFDL
10:104679735-104679735 T>A	0.0	4335	COLON	-	-	-	-	CNNM2	uc001kwn.3,p.L500M|ENST00000457502,p.L258M|ENST00000433628,p.L500M|uc001kwl.3,p.L500M|NM_017649,p.L500M|ENST00000369875,p.L500M|ENST00000369878,p.L500M|NM_199076,p.L500M|NM_199077,p.L500M|uc001kwm.3,p.L500M	protein_coding, processed_transcript	uc001kwn.3	nonsynonymous SNV	exon1	c.T1498A	p.L500M	RSNIVDLLFVKDLAFVDPDDCTPLK	RSNIVDLLFVKDMAFVDPDDCTPLK	7.0	6.0	-	-	4335_10:104679735-104679735 T>A_RSNIVDLLFVKDMAFVDPDDCTPLK
22:32134612-32134612 T>G	1.0	4335	COLON	-	-	-	-	PRR14L	ENST00000412743,p.T79P|ENST00000397493,p.T79P|uc003alp.4,p.T79P|ENST00000434485,p.T79P|ENST00000327423,p.T79P|NM_173566,p.T79P	protein_coding, processed_transcript, nonsense_mediated_decay	uc003alp.4	nonsynonymous SNV	exon2	c.A235C	p.T79P	LQRTHVESCCEETYETLDHGSEPGR	LQRTHVESCCEEPYETLDHGSEPGR	9.0	2.0	-	-	4335_22:32134612-32134612 T>G_LQRTHVESCCEEPYETLDHGSEPGR
14:21546385-21546385 G>C	1.0	4335	COLON	-	-	-	-	ARHGEF40	ENST00000298694,p.R695P|NM_018071,p.R695P|uc001vzp.3,p.R695P|ENST00000298693,p.R695P	retained_intron, protein_coding, nonsense_mediated_decay	uc001vzp.3	nonsynonymous SNV	exon9	c.G2084C	p.R695P	LCRLCQGVLGSVRQAIEELEGAAEP	LCRLCQGVLGSVPQAIEELEGAAEP	6.0	7.0	-	-	4335_14:21546385-21546385 G>C_LCRLCQGVLGSVPQAIEELEGAAEP
1:248722428-248722428 ->CG	0.0	4335	COLON	-	-	-	-	OR2T29	uc001ieo.2,p.M122fs|ENST00000328570,p.M122fs|NM_001004694,p.M122fs	protein_coding	uc001ieo.2	frameshift insertion	exon1	c.364_365insCG	p.M122fs	TLAGSEFFLLATMAYDRYVAICHPL	TLAGSEFFLLATTWPMTATWPSAILSVTLSS	2.0	10.0	unscreened	-	4335_1:248722428-248722428 ->CG_TLAGSEFFLLATTWPMTATWPSAILSVTLSS
16:27454318-27454318 T>G	0.0	4335	COLON	-	-	-	1	IL21R	uc002dos.2,p.F130V|uc002doq.2,p.F130V|NM_181079,p.F152V|uc002dor.2,p.F152V|NM_021798,p.F130V|NM_181078,p.F130V|ENST00000395755,p.F130V|ENST00000395754,p.F130V|ENST00000564089,p.F130V|ENST00000337929,p.F130V	retained_intron, protein_coding, processed_transcript	uc002dos.2	nonsynonymous SNV	exon5	c.T388G	p.F130V	IKPAPPFNVTVTFSGQYNISWRSDY	IKPAPPFNVTVTVSGQYNISWRSDY	6.0	3.0	-	-	4335_16:27454318-27454318 T>G_IKPAPPFNVTVTVSGQYNISWRSDY
4:39206793-39206793 A>T	0.0	4335	COLON	-	-	-	-	WDR19	uc003gtv.3,p.K208M|NM_025132,p.K208M|ENST00000288634,p.K48M|uc003gtu.1,p.K208M|ENST00000399820,p.K208M|uc010ifl.1,p.K25M|ENST00000506503,p.K208M|uc011byi.2,p.K48M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011byi.2	nonsynonymous SNV	exon7	c.A143T	p.K48M	SAAESMISVVLGKKTLFFLNLNEPD	SAAESMISVVLGMKTLFFLNLNEPD	6.0	1.0	-	-	4335_4:39206793-39206793 A>T_SAAESMISVVLGMKTLFFLNLNEPD
6:564620-564620 G>A	0.0	4335	COLON	-	-	-	-	EXOC2	uc011dho.3,p.A126V|uc003mte.4,p.A531V|ENST00000230449,p.A531V|ENST00000448181,p.A126V|NM_018303,p.A531V|uc003mtd.4,p.A531V	protein_coding, processed_transcript	uc011dho.3	nonsynonymous SNV	exon5	c.C377T	p.A126V	GALLPLSIRDGEAKQYGGWEVKCEL	GALLPLSIRDGEVKQYGGWEVKCEL	7.0	8.0	-	-	4335_6:564620-564620 G>A_GALLPLSIRDGEVKQYGGWEVKCEL
1:247464342-247464342 A>C	1.0	4335	COLON	-	-	-	-	ZNF496	uc009xgv.3,p.F451V|uc001ico.3,p.F415V|ENST00000294753,p.F415V|NM_032752,p.F415V|ENST00000366498,p.F451V|ENST00000461277,p.F340V	protein_coding, processed_transcript	uc009xgv.3	nonsynonymous SNV	exon8	c.T1351G	p.F451V	KKSYVCPNCGKIFRWRVNFIRHLRS	KKSYVCPNCGKIVRWRVNFIRHLRS	9.0	1.0	-	-	4335_1:247464342-247464342 A>C_KKSYVCPNCGKIVRWRVNFIRHLRS
12:112491379-112491379 ->A	0.0	4335	COLON	-	-	ID=COSM1358815;OCCURENCE=1(large_intestine)	-	NAA25	uc009zwa.2,p.H571fs|ENST00000261745,p.H571fs|uc009zvz.2,p.H543fs|uc001ttm.3,p.H571fs|NM_024953,p.H571fs	retained_intron, protein_coding, nonsense_mediated_decay	uc009zwa.2	frameshift insertion	exon15	c.1710dupT	p.H571fs	ASQSCNFALRFFHSNQKDTSEYIIQ	ASQSCNFALRFFSLQPERYLRIYYSSLQIWCI	6.0	7.0	-	-	4335_12:112491379-112491379 ->A_ASQSCNFALRFFSLQPERYLRIYYSSLQIWCI
1:35940486-35940486 G>C	1.0	4335	COLON	-	-	-	-	KIAA0319L	uc001byx.3,p.S312C|ENST00000325722,p.S312C|ENST00000426982,p.S312C|NM_024874,p.S312C|ENST00000478463,p.S312C|ENST00000482929,p.S312C|uc010ohx.1,p.S312C|ENST00000440579,p.S312C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ohx.1	nonsynonymous SNV	exon5	c.C935G	p.S312C	SAPYPVIKELVVSAGESVQITLPKN	SAPYPVIKELVVCAGESVQITLPKN	9.0	5.0	-	-	4335_1:35940486-35940486 G>C_SAPYPVIKELVVCAGESVQITLPKN
11:111412293-111412293 A>T	0.0	4335	COLON	-	-	-	-	LAYN	ENST00000375615,p.D31V|NM_001258390,p.D31V|uc001plr.2,p.D31V|ENST00000525126,p.D31V	protein_coding, processed_transcript, nonsense_mediated_decay	uc001plr.2	nonsynonymous SNV	exon2	c.A92T	p.D31V	LRAATGRLLSASDLDLRGGQPVCRG	LRAATGRLLSASVLDLRGGQPVCRG	6.0	6.0	-	-	4335_11:111412293-111412293 A>T_LRAATGRLLSASVLDLRGGQPVCRG
12:53680169-53680169 A>C	0.0	4335	COLON	-	-	-	-	ESPL1	NM_012291,p.S1217R|uc001scj.2,p.S892R|uc001sck.2,p.S1217R|ENST00000552462,p.S1217R|ENST00000257934,p.S1217R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001sck.2	nonsynonymous SNV	exon18	c.A3649C	p.S1217R	SLNHKTPPSLVPSLLDEILAQAYTL	SLNHKTPPSLVPRLLDEILAQAYTL	6.0	2.0	-	-	4335_12:53680169-53680169 A>C_SLNHKTPPSLVPRLLDEILAQAYTL
5:74807152-74807152 ->G	0.0	4335	COLON	-	-	-	-	COL4A3BP	uc003kdt.3,p.T89fs|NM_001130105,p.T89fs|ENST00000380494,p.T89fs	protein_coding, processed_transcript	uc003kdt.3	frameshift insertion	exon2	c.264dupC	p.T89fs	GGRTSSLLLLPPTPERALFASPSPD	GGRTSSLLLLPPHTGAGTLRFAIPRPFTPRTGRLLRRS	7.0	8.0	-	-	4335_5:74807152-74807152 ->G_GGRTSSLLLLPPHTGAGTLRFAIPRPFTPRTGRLLRRS
8:72756359-72756359 G>A	0.0	4335	COLON	-	-	-	-	MSC	NM_005098,p.R19W|uc003xyx.1,p.R19W|ENST00000325509,p.R19W	protein_coding, processed_transcript	uc003xyx.1	nonsynonymous SNV	exon1	c.C55T	p.R19W	SDPEEMELRGLQREYPVPASKRPPL	SDPEEMELRGLQWEYPVPASKRPPL	5.0	10.0	-	-	4335_8:72756359-72756359 G>A_SDPEEMELRGLQWEYPVPASKRPPL
18:72343813-72343813 T>G	0.0	4335	COLON	-	-	-	-	ZNF407	NM_001146190,p.F280V|NM_017757,p.F280V|uc010dqu.2,p.F280V|uc002llu.2,p.F279V|ENST00000309902,p.F280V|ENST00000582337,p.F280V|NM_001146189,p.F280V|ENST00000299687,p.F280V|ENST00000577538,p.F280V|uc010xfc.2,p.F280V|uc002llw.2,p.F280V	retained_intron, protein_coding, processed_transcript	uc010xfc.2	nonsynonymous SNV	exon1	c.T838G	p.F280V	HLRRQNLAARGGFVQILTKQPFPKK	HLRRQNLAARGGVVQILTKQPFPKK	6.0	7.0	-	-	4335_18:72343813-72343813 T>G_HLRRQNLAARGGVVQILTKQPFPKK
19:10047033-10047033 G>C	0.0	4335	COLON	-	-	-	-	OLFM2	ENST00000264833,p.L4V|NM_058164,p.L4V|uc002mmp.3,p.L4V	retained_intron, protein_coding, nonsense_mediated_decay	uc002mmp.3	nonsynonymous SNV	exon1	c.C10G	p.L4V	MWPLTVPPPLLLLLCS	MWPVTVPPPLLLLLCS	6.0	9.0	-	-	4335_19:10047033-10047033 G>C_MWPVTVPPPLLLLLCS
12:46756405-46756405 G>C	0.0	4335	COLON	-	-	-	-	SLC38A2	uc001rpg.3,p.T399S|uc010sli.2,p.T237S|uc001rph.3,p.T299S|ENST00000256689,p.T399S|NM_018976,p.T399S|ENST00000551374,p.T237S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sli.2	nonsynonymous SNV	exon7	c.C710G	p.T237S	VPVVIFPIRSSVTHLLCASKDFSWW	VPVVIFPIRSSVSHLLCASKDFSWW	9.0	2.0	-	-	4335_12:46756405-46756405 G>C_VPVVIFPIRSSVSHLLCASKDFSWW
9:133298033-133298033 T>C	0.0	4335	COLON	-	-	-	-	HMCN2	ENST00000428715,p.L144P	protein_coding, processed_transcript	ENST00000428715	nonsynonymous SNV	exon3	c.T431C	p.L144P	GVINGRKFGVATLNTSVMQEAHSGV	GVINGRKFGVATPNTSVMQEAHSGV	6.0	4.0	unscreened	-	4335_9:133298033-133298033 T>C_GVINGRKFGVATPNTSVMQEAHSGV
12:44770391-44770391 C>G	0.0	4335	COLON	-	-	-	-	TMEM117	uc001roe.3,p.P157R|ENST00000536799,p.P157R|ENST00000550495,p.P117R|NM_001286213,p.P117R|NM_001286212,p.P157R|ENST00000266534,p.P261R|uc001rod.3,p.P261R|NM_032256,p.P261R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001roe.3	nonsynonymous SNV	exon6	c.C470G	p.P157R	FDLLIVMQDWEFPHFMGDVDVNLPG	FDLLIVMQDWEFRHFMGDVDVNLPG	6.0	9.0	-	-	4335_12:44770391-44770391 C>G_FDLLIVMQDWEFRHFMGDVDVNLPG
7:128399015-128399015 T>G	1.0	4335	COLON	-	-	-	-	CALU	NM_001219,p.L169R|ENST00000542996,p.L177R|uc003vns.3,p.L169R|NM_001199673,p.L169R|ENST00000479257,p.L177R|uc022ald.1,p.L177R|ENST00000449187,p.L169R|NM_001130674,p.L169R|ENST00000249364,p.L169R|ENST00000538546,p.L18R|NM_001199672,p.L177R|NM_001199671,p.L177R|uc022ale.1,p.L169R|uc022alg.1,p.L95R|ENST00000535011,p.L169R|uc022alh.1,p.L95R|uc003vnq.3,p.L169R|uc003vnr.3,p.L177R|uc022alf.2,p.L17R|uc022ali.1,p.L17R	protein_coding	uc022ali.1	nonsynonymous SNV	exon3	c.T50G	p.L17R	ERRFKMADKDGDLIATKEEFTAFLH	ERRFKMADKDGDRIATKEEFTAFLH	10.0	4.0	-	-	4335_7:128399015-128399015 T>G_ERRFKMADKDGDRIATKEEFTAFLH
11:76831797-76831797 G>C	1.0	4335	COLON	-	-	-	-	CAPN5	NM_004055,p.Q443H|uc001oxy.3,p.Q483H|ENST00000529629,p.Q443H|uc009yup.3,p.Q483H|uc001oxx.3,p.Q443H|ENST00000456580,p.Q483H|uc009yuq.3,p.Q479H|ENST00000278559,p.Q443H	retained_intron, protein_coding	uc009yuq.3	nonsynonymous SNV	exon11	c.G1437C	p.Q479H	VEENRQYRMHSLQHKAASSIYINSR	VEENRQYRMHSLHHKAASSIYINSR	10.0	7.0	-	-	4335_11:76831797-76831797 G>C_VEENRQYRMHSLHHKAASSIYINSR
8:80677632-80677632 T>C	0.0	4335	COLON	-	-	-	1	HEY1	ENST00000354724,p.S236G|ENST00000337919,p.S240G|uc010lzq.3,p.S117G|NM_012258,p.S236G|ENST00000523976,p.S146G|NM_001040708,p.S240G|uc003ybm.3,p.S236G|NM_001282851,p.S146G|uc003ybl.3,p.S240G	retained_intron, protein_coding, processed_transcript	uc010lzq.3	nonsynonymous SNV	exon2	c.A349G	p.S117G	PEAPALRAPPSGSLGPVLPVVTSAS	PEAPALRAPPSGGLGPVLPVVTSAS	7.0	5.0	-	-	4335_8:80677632-80677632 T>C_PEAPALRAPPSGGLGPVLPVVTSAS
19:12543971-12543971 C>G	1.0	4335	COLON	-	-	-	-	ZNF443	ENST00000436821,p.R15P|ENST00000301547,p.R15P|uc002mtu.3,p.R15P|NM_005815,p.R15P	protein_coding, nonsense_mediated_decay	uc002mtu.3	nonsynonymous SNV	exon2	c.G44C	p.R15P	SVALEDVAVNFTREEWALLGPCQKN	SVALEDVAVNFTPEEWALLGPCQKN	7.0	4.0	-	-	4335_19:12543971-12543971 C>G_SVALEDVAVNFTPEEWALLGPCQKN
5:140590380-140590380 A>T	0.0	4335	COLON	-	-	-	-	PCDHB12	uc011dak.2,p.D297V|ENST00000239450,p.D634V|NM_018932,p.D634V|uc003liz.3,p.D634V|ENST00000541609,p.D297V	protein_coding	uc011dak.2	nonsynonymous SNV	exon2	c.A890T	p.D297V	GEVRTARLLSERDAAKHRLVVLVKD	GEVRTARLLSERVAAKHRLVVLVKD	8.0	3.0	-	-	4335_5:140590380-140590380 A>T_GEVRTARLLSERVAAKHRLVVLVKD
X:119389123-119389123 A>C	0.0	4335	COLON	-	-	-	-	ZBTB33	uc010nqm.1,p.K618T|NM_006777,p.K618T|uc022cdm.1,p.K618T|NM_001184742,p.K618T|ENST00000326624,p.K618T|uc004esn.1,p.K618T|ENST00000557385,p.K618T	protein_coding	uc022cdm.1	nonsynonymous SNV	exon1	c.A1853C	p.K618T	TIPAMKDDGIGYKVDTGKEPPVGTT	TIPAMKDDGIGYTVDTGKEPPVGTT	6.0	4.0	-	-	4335_X:119389123-119389123 A>C_TIPAMKDDGIGYTVDTGKEPPVGTT
1:158261102-158261102 G>C	0.0	4335	COLON	-	-	-	-	CD1C	ENST00000368170,p.E80D|uc001fru.3,p.E80D|NM_001765,p.E80D	protein_coding	uc001fru.3	nonsynonymous SNV	exon2	c.G240C	p.E80D	LHNWSKGNFSNEELSDLELLFRFYL	LHNWSKGNFSNEDLSDLELLFRFYL	6.0	9.0	-	-	4335_1:158261102-158261102 G>C_LHNWSKGNFSNEDLSDLELLFRFYL
19:50885412-50885412 C>T	0.0	4335	COLON	-	-	-	-	NR1H2	ENST00000598168,p.T376M|ENST00000599105,p.T362M|ENST00000253727,p.T406M|ENST00000593926,p.T406M|ENST00000411902,p.T309M|ENST00000542413,p.T137M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000599105	nonsynonymous SNV	exon9	c.C1085T	p.T362M	LQQPYVEALLSYTRIKRPQDQLRFP	LQQPYVEALLSYMRIKRPQDQLRFP	7.0	5.0	-	-	4335_19:50885412-50885412 C>T_LQQPYVEALLSYMRIKRPQDQLRFP
12:53202471-53202471 T>G	0.0	4335	COLON	-	-	-	-	KRT4	ENST00000458244,p.K313T|ENST00000551956,p.K333T|ENST00000293774,p.K407T|NM_002272,p.K333T|uc031qhk.1,p.K333T	retained_intron, protein_coding, nonsense_mediated_decay	uc031qhk.1	nonsynonymous SNV	exon5	c.A998C	p.K333T	RSKAEAEALYQTKVQQLQISVDQHG	RSKAEAEALYQTTVQQLQISVDQHG	6.0	5.0	-	-	4335_12:53202471-53202471 T>G_RSKAEAEALYQTTVQQLQISVDQHG
18:21485562-21485562 A>C	1.0	4335	COLON	-	-	-	-	LAMA3	ENST00000313654,p.K2231T|ENST00000587184,p.K566T|uc002kur.3,p.K2175T|NM_000227,p.K622T|NM_198129,p.K2231T|ENST00000399516,p.K2175T|NM_001127718,p.K566T|uc002kus.4,p.K622T|NM_001127717,p.K2175T|uc002kut.4,p.K566T|uc002kuq.3,p.K2231T|ENST00000269217,p.K622T	retained_intron, protein_coding, processed_transcript, non_stop_decay	uc002kut.4	nonsynonymous SNV	exon14	c.A1697C	p.K566T	LSSNSDKLLNEAKMTQKKLKQEVSP	LSSNSDKLLNEATMTQKKLKQEVSP	9.0	4.0	-	-	4335_18:21485562-21485562 A>C_LSSNSDKLLNEATMTQKKLKQEVSP
4:157693933-157693933 A>C	0.0	4335	COLON	-	-	-	-	PDGFC	ENST00000422544,p.L203R|NM_016205,p.L203R|ENST00000502773,p.L203R|uc003ipi.2,p.L40R|uc011cis.2,p.L40R|ENST00000541126,p.L40R|ENST00000542208,p.L48R|uc003iph.2,p.L203R	protein_coding, processed_transcript, nonsense_mediated_decay	uc011cis.2	nonsynonymous SNV	exon3	c.T119G	p.L40R	TAFSTLEDLIRYLEPERWQLDLEDL	TAFSTLEDLIRYREPERWQLDLEDL	7.0	1.0	-	-	4335_4:157693933-157693933 A>C_TAFSTLEDLIRYREPERWQLDLEDL
19:52660058-52660058 C>T	1.0	4335	COLON	0.0009	-	ID=COSM1000421,COSM1000420;OCCURENCE=1(endometrium)	-	ZNF836	ENST00000322146,p.R293Q|uc010ydi.2,p.R293Q|ENST00000597252,p.R293Q|uc010ydj.2,p.R293Q|NM_001102657,p.R293Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ydj.2	nonsynonymous SNV	exon5	c.G878A	p.R293Q	KIFRQNSDLVNHRRSHTGEKPYKCN	KIFRQNSDLVNHQRSHTGEKPYKCN	8.0	8.0	-	-	4335_19:52660058-52660058 C>T_KIFRQNSDLVNHQRSHTGEKPYKCN
8:23146537-23146537 T>G	0.0	4335	COLON	-	-	-	-	R3HCC1	NM_001301650,p.L40R|NM_001136108,p.L40R|ENST00000411463,p.L80R	protein_coding, processed_transcript, ambiguous_orf	NM_001301650	nonsynonymous SNV	exon3	c.T119G	p.L40R	RFLLQKQLSKVLLFPPLSSRLRYLI	RFLLQKQLSKVLRFPPLSSRLRYLI	8.0	2.0	-	-	4335_8:23146537-23146537 T>G_RFLLQKQLSKVLRFPPLSSRLRYLI
3:123650034-123650034 C>T	1.0	4335	COLON	-	-	-	-	CCDC14	uc003egv.4,p.E254K|NM_022757,p.E572K|ENST00000419247,p.E254K|ENST00000310351,p.E453K|ENST00000489746,p.E413K|uc010hrt.3,p.E572K|ENST00000409697,p.E594K|ENST00000433542,p.E572K|uc003egy.4,p.E413K|ENST00000485727,p.E413K|uc003egx.4,p.E413K|uc003egz.2,p.E413K|ENST00000488653,p.E613K|uc011bjx.2,p.E613K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bjx.2	nonsynonymous SNV	exon12	c.G1837A	p.E613K	ALVNVKSSQFKLETAEKENQILGIT	ALVNVKSSQFKLKTAEKENQILGIT	8.0	9.0	-	-	4335_3:123650034-123650034 C>T_ALVNVKSSQFKLKTAEKENQILGIT
8:95158353-95158353 A>C	1.0	4335	COLON	-	-	-	2	CDH17	ENST00000027335,p.L657R|uc011lgp.1,p.L657R|NM_004063,p.L657R|ENST00000450165,p.L657R|NM_001144663,p.L657R|uc011lgo.1,p.L443R|uc003ygh.2,p.L657R|ENST00000441892,p.L443R	protein_coding, nonsense_mediated_decay	uc011lgp.1	nonsynonymous SNV	exon15	c.T1970G	p.L657R	SSLSSVSEFHLILMDVNDNPPRLAK	SSLSSVSEFHLIRMDVNDNPPRLAK	9.0	6.0	-	-	4335_8:95158353-95158353 A>C_SSLSSVSEFHLIRMDVNDNPPRLAK
13:23913108-23913108 G>C	0.0	4335	COLON	-	-	-	-	SACS	NM_001278055,p.P1489R|ENST00000382298,p.P1636R|uc001uoo.3,p.P1489R|NM_014363,p.P1636R|ENST00000382292,p.P1636R|uc001uon.3,p.P1636R|ENST00000402364,p.P886R	protein_coding, processed_transcript	uc001uoo.3	nonsynonymous SNV	exon8	c.C4466G	p.P1489R	VFGCQLPLTVEAPYSYNGTLFRLSF	VFGCQLPLTVEARYSYNGTLFRLSF	5.0	7.0	-	-	4335_13:23913108-23913108 G>C_VFGCQLPLTVEARYSYNGTLFRLSF
1:39801492-39801492 A>T	0.0	4335	COLON	-	-	-	-	MACF1	ENST00000372915,p.S3083C|ENST00000564288,p.S3078C|ENST00000289893,p.S1518C|ENST00000567887,p.S3115C|uc031pmd.1,p.S1518C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pmd.1	nonsynonymous SNV	exon1	c.A4552T	p.S1518C	SKQANEGKVNNLSLCLTLKPEENLS	SKQANEGKVNNLCLCLTLKPEENLS	10.0	4.0	-	-	4335_1:39801492-39801492 A>T_SKQANEGKVNNLCLCLTLKPEENLS
1:207737268-207737268 T>G	0.0	4335	COLON	-	-	-	-	CR1	ENST00000367051,p.F766V|ENST00000400960,p.F766V|ENST00000367053,p.F766V|ENST00000367049,p.F1216V|uc021pij.1,p.F766V|NM_000651,p.F1216V|uc001hfy.3,p.F766V|NM_000573,p.F766V|uc001hfx.3,p.F1216V	retained_intron, protein_coding, processed_transcript	uc021pij.1	nonsynonymous SNV	exon14	c.T2296G	p.F766V	LHAERTQRDKDNFSPGQEVFYSCEP	LHAERTQRDKDNVSPGQEVFYSCEP	10.0	2.0	-	-	4335_1:207737268-207737268 T>G_LHAERTQRDKDNVSPGQEVFYSCEP
14:45513866-45513866 G>T	0.0	4335	COLON	-	-	-	-	FAM179B	uc001wvv.3,p.R1316L|NM_015091,p.R1316L|ENST00000361577,p.R1316L|uc001wvw.3,p.R1316L|ENST00000361462,p.R1316L	retained_intron, protein_coding, nonsense_mediated_decay	uc001wvw.3	nonsynonymous SNV	exon13	c.G3947T	p.R1316L	VQEVKNLRSGVSRAAVVCLSDLFTY	VQEVKNLRSGVSLAAVVCLSDLFTY	8.0	4.0	-	-	4335_14:45513866-45513866 G>T_VQEVKNLRSGVSLAAVVCLSDLFTY
1:40092318-40092318 G>A	0.0	4335	COLON	-	-	-	-	HEYL	ENST00000372852,p.P283L|NM_014571,p.P283L|uc001cdp.3,p.P283L|ENST00000535435,p.P255L|uc010oiw.2,p.P255L	protein_coding	uc010oiw.2	nonsynonymous SNV	exon5	c.C764T	p.P255L	HIAPLLQSSSPTPPGPTGSAAYVAV	HIAPLLQSSSPTLPGPTGSAAYVAV	6.0	8.0	-	-	4335_1:40092318-40092318 G>A_HIAPLLQSSSPTLPGPTGSAAYVAV
1:158813189-158813189 G>A	0.0	4335	COLON	-	-	-	-	MNDA	ENST00000368141,p.R129K|NM_002432,p.R129K|uc001fsz.1,p.R129K	protein_coding, processed_transcript	uc001fsz.1	nonsynonymous SNV	exon3	c.G386A	p.R129K	TARNKLTSEARGRIPVAQKRKTPNK	TARNKLTSEARGKIPVAQKRKTPNK	8.0	8.0	-	-	4335_1:158813189-158813189 G>A_TARNKLTSEARGKIPVAQKRKTPNK
7:157159199-157159199 A>C	1.0	4335	COLON	-	-	-	-	DNAJB6	ENST00000452797,p.K11T|uc011kvy.2,p.K11T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kvy.2	nonsynonymous SNV	exon3	c.A32C	p.K11T	MPHPRILKRPKKRDIYDKYGKEG	MPHPRILKRPTKRDIYDKYGKEG	10.0	2.0	-	-	4335_7:157159199-157159199 A>C_MPHPRILKRPTKRDIYDKYGKEG
19:58858781-58858781 C>T	0.0	4335	COLON	-	-	-	1	A1BG	NM_130786,p.R473H|ENST00000263100,p.R473H|uc002qsd.4,p.R473H	retained_intron, protein_coding, processed_transcript	uc002qsd.4	nonsynonymous SNV	exon7	c.G1418A	p.R473H	GPQHAGNYRCRYRSWVPHTFESELS	GPQHAGNYRCRYHSWVPHTFESELS	7.0	1.0	-	-	4335_19:58858781-58858781 C>T_GPQHAGNYRCRYHSWVPHTFESELS
5:93788673-93788673 G>A	0.0	4335	COLON	-	-	-	-	KIAA0825	ENST00000513200,p.S783F|uc011cuk.2,p.S783F|ENST00000312498,p.S783F|NM_001145678,p.S783F|ENST00000427991,p.S783F	retained_intron, protein_coding, processed_transcript	uc011cuk.2	nonsynonymous SNV	exon13	c.C2348T	p.S783F	LYWVSCISHFYPSLLRTPSAGGLKA	LYWVSCISHFYPFLLRTPSAGGLKA	5.0	2.0	-	-	4335_5:93788673-93788673 G>A_LYWVSCISHFYPFLLRTPSAGGLKA
7:65554102-65554102 G>C	1.0	4335	COLON	-	-	-	-	ASL	ENST00000395332,p.Q286H|uc003tur.3,p.Q260H|ENST00000380839,p.Q260H|uc003tuq.3,p.Q286H|ENST00000395331,p.Q286H|ENST00000362000,p.Q221H|ENST00000304874,p.Q286H|uc003tuo.3,p.Q286H|NM_001024943,p.Q286H|NM_001024946,p.Q260H|NM_000048,p.Q286H|uc003tup.3,p.Q286H|NM_001024944,p.Q286H	retained_intron, processed_transcript, protein_coding	uc003tur.3	nonsynonymous SNV	exon10	c.G780C	p.Q260H	SDAYSTGSSLMPQKKNPDSLELIRS	SDAYSTGSSLMPHKKNPDSLELIRS	10.0	7.0	-	-	4335_7:65554102-65554102 G>C_SDAYSTGSSLMPHKKNPDSLELIRS
13:37591461-37591461 T>A	0.0	4335	COLON	-	-	-	-	SUPT20H	uc010abt.3,p.Q639L|NM_001278481,p.Q639L|ENST00000356185,p.Q639L|ENST00000350612,p.Q638L|NM_001278482,p.Q639L|NM_017569,p.Q639L|uc001uwi.3,p.Q638L|uc001uwg.3,p.Q638L|uc001uwd.3,p.Q125L|NM_001278480,p.Q717L|ENST00000475892,p.Q717L|ENST00000464744,p.Q639L|ENST00000360252,p.Q639L|uc001uwk.3,p.Q717L|uc001uwj.3,p.Q639L|uc001uwh.3,p.Q639L|uc001uwe.3,p.Q122L|NM_001014286,p.Q638L	retained_intron, protein_coding, processed_transcript	uc010abt.3	nonsynonymous SNV	exon23	c.A1916T	p.Q639L	PGGSLIFNTLQQQQQQLSQFTPQQP	PGGSLIFNTLQQLQQQLSQFTPQQP	7.0	3.0	-	-	4335_13:37591461-37591461 T>A_PGGSLIFNTLQQLQQQLSQFTPQQP
19:8654376-8654376 C>T	0.0	4335	COLON	-	-	-	-	ADAMTS10	uc002mkk.1,p.R297H|ENST00000595838,p.R152H|NM_030957,p.R665H|uc002mkj.1,p.R665H|uc002mki.1,p.R152H|NM_001282352,p.R152H|ENST00000270328,p.R665H|ENST00000597188,p.R665H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkk.1	nonsynonymous SNV	exon16	c.G890A	p.R297H	ERAAAVVDGTPCRPDTVDICVSGEC	ERAAAVVDGTPCHPDTVDICVSGEC	7.0	10.0	-	-	4335_19:8654376-8654376 C>T_ERAAAVVDGTPCHPDTVDICVSGEC
1:178269225-178269225 G>C	0.0	4335	COLON	-	-	-	-	RASAL2	NM_170692,p.E143D|ENST00000367649,p.E143D|ENST00000448150,p.E125D|uc009wxb.2,p.E143D|uc001glq.3,p.E143D	retained_intron, protein_coding, processed_transcript	uc009wxb.2	nonsynonymous SNV	exon3	c.G429C	p.E143D	RTVSVPSEGQFPEYPPEGATKLEVP	RTVSVPSEGQFPDYPPEGATKLEVP	9.0	1.0	-	-	4335_1:178269225-178269225 G>C_RTVSVPSEGQFPDYPPEGATKLEVP
8:144999359-144999359 T>C	1.0	4335	COLON	-	-	-	-	PLEC	ENST00000354589,p.S1580G|NM_000445,p.S1607G|NM_201378,p.S1566G|uc003zah.2,p.S1566G|ENST00000527096,p.S1603G|uc003zae.1,p.S1548G|uc003zad.2,p.S1580G|NM_201383,p.S1584G|uc003zaj.2,p.S1607G|uc003zab.1,p.S1580G|uc003zaf.1,p.S1717G|ENST00000436759,p.S1607G|ENST00000356346,p.S1566G|uc003zag.1,p.S1558G|uc003zac.1,p.S1584G|NM_201382,p.S1580G|ENST00000357649,p.S1584G|ENST00000345136,p.S1580G|NM_201379,p.S1558G|ENST00000398774,p.S1548G|ENST00000322810,p.S1717G|NM_201384,p.S1580G|ENST00000354958,p.S1558G|NM_201380,p.S1717G|NM_201381,p.S1548G	retained_intron, protein_coding	uc003zaj.2	nonsynonymous SNV	exon32	c.A4819G	p.S1607G	ETAQRSAEAELQSKRASFAEKTAQL	ETAQRSAEAELQGKRASFAEKTAQL	10.0	2.0	-	-	4335_8:144999359-144999359 T>C_ETAQRSAEAELQGKRASFAEKTAQL
15:75982524-75982524 G>T	1.0	4335	COLON	-	-	-	-	CSPG4	NM_001897,p.H294Q|uc002baw.3,p.H294Q|ENST00000308508,p.H294Q	protein_coding	uc002baw.3	nonsynonymous SNV	exon3	c.C882A	p.H294Q	GQPHEVSVHINAHRLEISVDQYPTH	GQPHEVSVHINAQRLEISVDQYPTH	6.0	10.0	-	-	4335_15:75982524-75982524 G>T_GQPHEVSVHINAQRLEISVDQYPTH
1:236906291-236906291 C>G	0.0	4335	COLON	-	-	-	-	ACTN2	uc001hyf.2,p.H401Q|ENST00000542672,p.H401Q|uc001hyg.2,p.H193Q|uc010pxu.1,p.H90Q|NM_001103,p.H401Q|uc009xgi.1,p.H401Q|NM_001278344,p.H193Q|NM_001278343,p.H401Q|ENST00000366578,p.H401Q	protein_coding, processed_transcript	uc010pxu.1	nonsynonymous SNV	exon4	c.C270G	p.H90Q	LLNEIRRLERLEHLAEKFRQKASTH	LLNEIRRLERLEQLAEKFRQKASTH	6.0	5.0	-	-	4335_1:236906291-236906291 C>G_LLNEIRRLERLEQLAEKFRQKASTH
4:144116955-144116955 A>C	0.0	4335	COLON	-	-	-	-	USP38	uc003ijb.3,p.K302T|NM_032557,p.K302T|ENST00000510377,p.K302T|NM_001290325,p.K302T|uc003ija.4,p.K302T|ENST00000511739,p.K221T|ENST00000307017,p.K302T	protein_coding, nonsense_mediated_decay	uc003ijb.3	nonsynonymous SNV	exon3	c.A905C	p.K302T	VIALLKGLAAVQKFTILIDVTLLKI	VIALLKGLAAVQTFTILIDVTLLKI	5.0	1.0	-	-	4335_4:144116955-144116955 A>C_VIALLKGLAAVQTFTILIDVTLLKI
19:42085967-42085967 A>G	0.0	4335	COLON	-	-	-	-	CEACAM21	NM_001098506,p.K229R|NM_001288773,p.K101R|uc002ore.4,p.K229R|ENST00000407170,p.K101R|ENST00000401445,p.K229R	protein_coding, processed_transcript, nonsense_mediated_decay	uc002ore.4	nonsynonymous SNV	exon3	c.A686G	p.K229R	SNPVSSNRSDPLKLTVKSDDNTLGI	SNPVSSNRSDPLRLTVKSDDNTLGI	7.0	3.0	-	-	4335_19:42085967-42085967 A>G_SNPVSSNRSDPLRLTVKSDDNTLGI
8:121275194-121275194 G>T	0.0	4335	COLON	-	-	-	-	COL14A1	uc003yoy.3,p.S664I|ENST00000434620,p.S799I|ENST00000297848,p.S986I|uc003yox.4,p.S986I|ENST00000247781,p.S891I|NM_021110,p.S986I|ENST00000309791,p.S986I	protein_coding, processed_transcript, nonsense_mediated_decay	uc003yoy.3	nonsynonymous SNV	exon19	c.G1991T	p.S664I	FYGLQPDSEYKISVYTKLQEIEGPS	FYGLQPDSEYKIIVYTKLQEIEGPS	7.0	8.0	-	-	4335_8:121275194-121275194 G>T_FYGLQPDSEYKIIVYTKLQEIEGPS
20:3210255-3210255 A>C	1.0	4335	COLON	-	-	-	-	SLC4A11	uc010zqe.2,p.S596A|NM_001174090,p.S596A|NM_001174089,p.S553A|ENST00000380056,p.S569A|ENST00000380059,p.S596A|NM_032034,p.S569A|uc002wig.3,p.S569A|uc010zqf.2,p.S553A|ENST00000539553,p.S553A	protein_coding, processed_transcript	uc010zqf.2	nonsynonymous SNV	exon14	c.T1657G	p.S553A	LASPTELPSATHSGQATAVLSLLIM	LASPTELPSATHAGQATAVLSLLIM	8.0	4.0	-	-	4335_20:3210255-3210255 A>C_LASPTELPSATHAGQATAVLSLLIM
19:48519242-48519242 T>A	0.0	4335	COLON	-	-	-	-	ELSPBP1	ENST00000596043,p.S55T|NM_022142,p.S101T|ENST00000339841,p.S101T|uc002pht.3,p.S101T	protein_coding	uc002pht.3	nonsynonymous SNV	exon4	c.T301A	p.S101T	ISQGSFLGSLWCSVTSVFDEKQQWK	ISQGSFLGSLWCTVTSVFDEKQQWK	1.0	4.0	unscreened	-	4335_19:48519242-48519242 T>A_ISQGSFLGSLWCTVTSVFDEKQQWK
16:71019119-71019119 A>T	0.0	4335	COLON	-	-	-	-	HYDIN	NM_001270974,p.L1434H|uc031qwy.1,p.L1434H|ENST00000393567,p.L1434H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qwy.1	nonsynonymous SNV	exon28	c.T4301A	p.L1434H	VLTDHQSSPDNLLPGVPLILPVSGF	VLTDHQSSPDNLHPGVPLILPVSGF	7.0	1.0	-	-	4335_16:71019119-71019119 A>T_VLTDHQSSPDNLHPGVPLILPVSGF
1:226349232-226349232 T>G	1.0	4335	COLON	-	-	-	-	ACBD3	ENST00000366812,p.K243T|uc001hpy.3,p.K243T|NM_022735,p.K243T	protein_coding, processed_transcript	uc001hpy.3	nonsynonymous SNV	exon4	c.A728C	p.K243T	RIEEERLRLEQQKQQIMAALNSQTA	RIEEERLRLEQQTQQIMAALNSQTA	7.0	2.0	-	-	4335_1:226349232-226349232 T>G_RIEEERLRLEQQTQQIMAALNSQTA
10:93713588-93713588 C>G	1.0	4335	COLON	-	-	-	-	BTAF1	ENST00000265990,p.A220G|uc001khr.3,p.A220G|NM_003972,p.A220G	protein_coding, processed_transcript	uc001khr.3	nonsynonymous SNV	exon6	c.C659G	p.A220G	QKNKAKRMAKLFAKQRSRDAVETNE	QKNKAKRMAKLFGKQRSRDAVETNE	8.0	4.0	-	-	4335_10:93713588-93713588 C>G_QKNKAKRMAKLFGKQRSRDAVETNE
6:39828728-39828728 A>C	0.0	4335	COLON	-	-	-	-	DAAM2	NM_015345,p.N65H|uc003ooy.4,p.N65H|ENST00000405961,p.N65H|uc010jxc.3,p.N65H|uc003oox.3,p.N65H|ENST00000398904,p.N65H|ENST00000274867,p.N65H|ENST00000538976,p.N65H|uc003oow.3,p.N65H|NM_001201427,p.N65H	retained_intron, protein_coding, processed_transcript	uc010jxc.3	nonsynonymous SNV	exon3	c.A193C	p.N65H	AELVDELDLTDKNREAMFALPPEKK	AELVDELDLTDKHREAMFALPPEKK	6.0	7.0	-	-	4335_6:39828728-39828728 A>C_AELVDELDLTDKHREAMFALPPEKK
16:49660144-49660146 TGA>-	0.0	4335	COLON	-	-	-	-	ZNF423	ENST00000567169,p.1054_1055del|ENST00000561648,p.1171_1172del|ENST00000535559,p.1054_1055del|ENST00000262383,p.1171_1172del|ENST00000562520,p.1111_1112del|uc010vgn.3,p.1054_1055del|uc031qwe.1,p.1111_1112del|uc031qwd.1,p.1171_1172del|NM_015069,p.1171_1172del|ENST00000563137,p.1111_1112del|ENST00000562871,p.1111_1112del|NM_001271620,p.1111_1112del	retained_intron, protein_coding	uc031qwe.1	nonframeshift deletion	exon5	c.3332_3334del	p.1111_1112del	TSPVPRKKTYQCIKCQMTFENEREIQ	TSPVPRKKTYQCKCQMTFENEREIQ	5.0	9.0	-	-	4335_16:49660144-49660146 TGA>-_TSPVPRKKTYQCKCQMTFENEREIQ
6:46988213-46988213 T>G	0.0	4335	COLON	-	-	-	-	GPR110	NM_025048,p.K211T|uc003oyu.1,p.K211T|ENST00000371243,p.K211T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003oyu.1	nonsynonymous SNV	exon8	c.A632C	p.K211T	QVTQFRMSLLSPKLECNGTI	QVTQFRMSLLSPTLECNGTI	5.0	3.0	-	-	4335_6:46988213-46988213 T>G_QVTQFRMSLLSPTLECNGTI
10:81050726-81050726 A>C	1.0	4335	COLON	-	-	-	-	ZMIZ1	uc001kaf.2,p.N184T|uc001kah.1,p.N60T|ENST00000334512,p.N184T|NM_020338,p.N184T|uc001kag.2,p.N60T	protein_coding, processed_transcript	uc001kah.1	nonsynonymous SNV	exon3	c.A179C	p.N60T	GVTNTSQSQVLGNPMANANNPMNPG	GVTNTSQSQVLGTPMANANNPMNPG	8.0	6.0	-	-	4335_10:81050726-81050726 A>C_GVTNTSQSQVLGTPMANANNPMNPG
4:110615724-110615724 T>G	0.0	4335	COLON	-	-	-	-	CASP6	NM_032992,p.K58T|uc003hzn.1,p.K147T|uc003hzo.1,p.K58T|ENST00000352981,p.K58T|ENST00000265164,p.K147T|ENST00000503684,p.K129T|NM_001226,p.K147T	retained_intron, protein_coding, processed_transcript	uc003hzo.1	nonsynonymous SNV	exon2	c.A173C	p.K58T	EIQTLTGLFKGDKCHSLVGKPKIFI	EIQTLTGLFKGDTCHSLVGKPKIFI	7.0	3.0	-	-	4335_4:110615724-110615724 T>G_EIQTLTGLFKGDTCHSLVGKPKIFI
16:2168192-2168192 G>C	0.0	4335	COLON	-	-	-	-	PKD1	uc002cos.1,p.H267Q|ENST00000262304,p.H267Q|NM_001009944,p.H267Q|NM_000296,p.H267Q|ENST00000423118,p.H267Q|uc002cot.1,p.H267Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002cot.1	nonsynonymous SNV	exon5	c.C801G	p.H267Q	PAPTCRGPTLLQHVFPASPGATLVG	PAPTCRGPTLLQQVFPASPGATLVG	10.0	1.0	-	-	4335_16:2168192-2168192 G>C_PAPTCRGPTLLQQVFPASPGATLVG
4:121966899-121966899 T>A	0.0	4335	COLON	-	-	-	-	NDNF	NM_024574,p.M32L|ENST00000515757,p.M32L|uc003idq.1,p.M32L|ENST00000511408,p.M32L|ENST00000379692,p.M32L	protein_coding, processed_transcript	uc003idq.1	nonsynonymous SNV	exon2	c.A94T	p.M32L	QKLPTRDEELFQMQIRDKAFFHDSS	QKLPTRDEELFQLQIRDKAFFHDSS	7.0	4.0	-	-	4335_4:121966899-121966899 T>A_QKLPTRDEELFQLQIRDKAFFHDSS
5:71638803-71638803 A>C	0.0	4335	COLON	-	-	-	-	PTCD2	uc011csg.2,p.K84N|uc011csh.2,p.K147N|NM_001284403,p.K147N|ENST00000536805,p.K84N|uc003kcc.4,p.K85N|ENST00000308077,p.K256N|NM_001284404,p.K84N|ENST00000510676,p.K85N|ENST00000503868,p.K147N|uc011csf.1,p.K66N|NM_024754,p.K256N|uc003kcb.3,p.K256N|NM_001284405,p.K66N|ENST00000380639,p.K256N	protein_coding, processed_transcript, nonsense_mediated_decay	uc011csh.2	nonsynonymous SNV	exon5	c.A441C	p.K147N	AVALALNQNEMAKAVSIFSQIMNPE	AVALALNQNEMANAVSIFSQIMNPE	5.0	3.0	-	-	4335_5:71638803-71638803 A>C_AVALALNQNEMANAVSIFSQIMNPE
16:69783240-69783240 G>C	1.0	4335	COLON	-	-	-	-	NOB1	NM_014062,p.P134R|uc031qwt.1,p.P74R|uc002exs.4,p.P134R|ENST00000268802,p.P134R	retained_intron, protein_coding, nonsense_mediated_decay	uc031qwt.1	nonsynonymous SNV	exon4	c.C221G	p.P74R	PLHISGFHLPYKPKPPQETEKGHSA	PLHISGFHLPYKRKPPQETEKGHSA	9.0	9.0	-	-	4335_16:69783240-69783240 G>C_PLHISGFHLPYKRKPPQETEKGHSA
5:158140041-158140041 C>T	0.0	4335	COLON	-	-	-	1	EBF1	uc011ddx.3,p.V423M|NM_001290360,p.V437M|uc003lxl.5,p.V391M|ENST00000380654,p.V405M|NM_182708,p.V405M|ENST00000517373,p.V428M|uc010jip.3,p.V436M|uc011ddw.2,p.V304M|ENST00000313708,p.V436M|NM_024007,p.V436M	retained_intron, protein_coding, processed_transcript	uc011ddx.3	nonsynonymous SNV	exon13	c.G1267A	p.V423M	LANTSVHAGMMGVNSFSGQLAVNVS	LANTSVHAGMMGMNSFSGQLAVNVS	6.0	9.0	-	-	4335_5:158140041-158140041 C>T_LANTSVHAGMMGMNSFSGQLAVNVS
15:85383208-85383208 C>T	0.0	4335	COLON	-	-	-	-	ALPK3	ENST00000258888,p.P435L|uc002ble.3,p.P435L|NM_020778,p.P435L	retained_intron, protein_coding	uc002ble.3	nonsynonymous SNV	exon5	c.C1304T	p.P435L	FQRKRRLSGAQAPGPSVPTREPEGG	FQRKRRLSGAQALGPSVPTREPEGG	5.0	9.0	-	-	4335_15:85383208-85383208 C>T_FQRKRRLSGAQALGPSVPTREPEGG
12:40748174-40748174 C>T	0.0	4335	COLON	-	-	-	-	LRRK2	ENST00000298910,p.S2217F|uc001rmg.4,p.S2217F|uc009zjw.3,p.S1055F|NM_198578,p.S2217F|uc001rmi.3,p.S1050F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zjw.3	nonsynonymous SNV	exon24	c.C3164T	p.S1055F	VHLPVEKESWIVSGTQSGTLLVINT	VHLPVEKESWIVFGTQSGTLLVINT	8.0	4.0	unscreened	-	4335_12:40748174-40748174 C>T_VHLPVEKESWIVFGTQSGTLLVINT
11:31113031-31113031 T>G	0.0	4335	COLON	-	-	-	-	DCDC5,DCDC1	ENST00000597505,p.T716P|uc009yjl.1,p.T92P|uc001msu.2,p.T335P|uc009yjk.1,p.T164P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009yjl.1	nonsynonymous SNV	exon7	c.A274C	p.T92P	ITKTGMILSRAITQGCLAIGHPIRV	ITKTGMILSRAIPQGCLAIGHPIRV	5.0	1.0	-	-	4335_11:31113031-31113031 T>G_ITKTGMILSRAIPQGCLAIGHPIRV
11:66617791-66617791 T>G	0.0	4335	COLON	-	-	-	-	PC	uc001ojn.1,p.N873T|NM_000920,p.N873T|NM_001040716,p.N873T|uc001ojo.1,p.N873T|ENST00000393955,p.N873T|uc001ojp.1,p.N873T|NM_022172,p.N873T|ENST00000393958,p.N873T|ENST00000393960,p.N873T	protein_coding, processed_transcript	uc001ojp.1	nonsynonymous SNV	exon18	c.A2618C	p.N873T	VYENEIPGGQYTNLHFQAHSMGLGS	VYENEIPGGQYTTLHFQAHSMGLGS	6.0	6.0	-	-	4335_11:66617791-66617791 T>G_VYENEIPGGQYTTLHFQAHSMGLGS
3:182554247-182554247 A>C	0.0	4335	COLON	-	-	-	-	ATP11B	ENST00000493826,p.T181P|uc003fla.3,p.T181P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003fla.3	nonsynonymous SNV	exon6	c.A541C	p.T181P	SCHVTTASLDGETNLKVCLHMFEYC	SCHVTTASLDGEPNLKVCLHMFEYC	8.0	2.0	-	-	4335_3:182554247-182554247 A>C_SCHVTTASLDGEPNLKVCLHMFEYC
9:32633583-32633583 ->T	0.0	4335	COLON	-	-	ID=COSM1462011;OCCURENCE=2(large_intestine)	-	TAF1L	uc003zrg.1,p.K665fs|ENST00000242310,p.K665fs|NM_153809,p.K665fs	protein_coding	uc003zrg.1	frameshift insertion	exon1	c.1994dupA	p.K665fs	HSVQPLLKHIKKKAKMREQERQASG	HSVQPLLKHIKKKGQDERTREASLRWWRVVFYAHTSGSHRQRWRSYSCRI	1.0	9.0	unscreened	-	4335_9:32633583-32633583 ->T_HSVQPLLKHIKKKGQDERTREASLRWWRVVFYAHTSGSHRQRWRSYSCRI
4:158257859-158257859 ->A	0.0	4335	COLON	-	-	-	-	GRIA2	uc003ipm.4,p.L602fs|uc003ipk.4,p.L555fs|ENST00000393815,p.L555fs|ENST00000507898,p.L555fs|uc003ipl.4,p.L602fs|ENST00000449365,p.L555fs|ENST00000323661,p.L555fs|NM_001083619,p.L602fs|NM_000826,p.L602fs|NM_001083620,p.L555fs|ENST00000264426,p.L602fs|uc011cit.2,p.L555fs|ENST00000296526,p.L602fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cit.2	frameshift insertion	exon11	c.1663_1664insA	p.L555fs	NEFGIFNSLWFSLGAFMQQGCDISP	NEFGIFNSLWFSYGCLYAARMRYFAKIPLWAHCWRCVVVLYPDHNLLLHG	3.0	2.0	unscreened	-	4335_4:158257859-158257859 ->A_NEFGIFNSLWFSYGCLYAARMRYFAKIPLWAHCWRCVVVLYPDHNLLLHG
6:17850596-17850596 G>C	0.0	4335	COLON	-	-	-	-	KIF13A	ENST00000378826,p.F225L|ENST00000378843,p.F225L|uc003nch.4,p.F225L|ENST00000378816,p.F225L|NM_022113,p.F225L|uc003nci.4,p.F225L|NM_001105567,p.F225L|ENST00000259711,p.F225L|NM_001105566,p.F225L|ENST00000378814,p.F225L|NM_001105568,p.F225L|uc003ncg.4,p.F225L|uc003ncf.3,p.F225L	retained_intron, protein_coding, processed_transcript	uc003nci.4	nonsynonymous SNV	exon8	c.C675G	p.F225L	NMNEESSRSHAVFNIIITQTLYDLQ	NMNEESSRSHAVLNIIITQTLYDLQ	7.0	2.0	-	-	4335_6:17850596-17850596 G>C_NMNEESSRSHAVLNIIITQTLYDLQ
5:79331430-79331430 G>A	0.0	4335	COLON	-	-	-	-	THBS4	uc021yaw.1,p.A24T|NM_003248,p.A24T|ENST00000350881,p.A24T	protein_coding, processed_transcript	uc021yaw.1	nonsynonymous SNV	exon1	c.G70A	p.A24T	LHLVLQRWLAAGAQATPQVFDLLPS	LHLVLQRWLAAGTQATPQVFDLLPS	5.0	7.0	-	-	4335_5:79331430-79331430 G>A_LHLVLQRWLAAGTQATPQVFDLLPS
1:39759215-39759215 A>G	1.0	4335	COLON	-	-	-	-	MACF1	ENST00000564288,p.E693G|ENST00000361689,p.E698G|uc001cda.1,p.E606G|ENST00000567887,p.E730G|uc031pmc.1,p.E698G|uc021olt.1,p.E698G|uc001cdc.2,p.E698G|ENST00000539005,p.E698G|ENST00000372915,p.E698G|ENST00000545844,p.E698G|ENST00000496804,p.E858G|ENST00000317713,p.E698G|ENST00000530262,p.E847G|ENST00000524432,p.E656G|NM_012090,p.E698G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031pmc.1	nonsynonymous SNV	exon17	c.A2093G	p.E698G	VSRATAELIWLNEKEEEELAYDWSD	VSRATAELIWLNGKEEEELAYDWSD	10.0	3.0	-	-	4335_1:39759215-39759215 A>G_VSRATAELIWLNGKEEEELAYDWSD
X:153631911-153631911 C>A	1.0	4335	COLON	-	-	-	-	DNASE1L1	ENST00000369808,p.V122F|uc004fks.1,p.V122F|ENST00000369809,p.V122F|NM_001009933,p.V122F|ENST00000393638,p.V122F|ENST00000369807,p.V122F|NM_001009934,p.V122F|NM_006730,p.V122F|NM_001009932,p.V122F|uc004fku.1,p.V122F|uc004fkt.1,p.V122F|uc004fkv.1,p.V122F|uc004fkw.1,p.V122F|ENST00000451865,p.V122F|ENST00000014935,p.V122F|ENST00000309585,p.V122F	retained_intron, protein_coding, processed_transcript	uc004fkw.1	nonsynonymous SNV	exon5	c.G364T	p.V122F	VLSSYVYNDEDDVFAREPFVAQFSL	VLSSYVYNDEDDFFAREPFVAQFSL	7.0	8.0	-	-	4335_X:153631911-153631911 C>A_VLSSYVYNDEDDFFAREPFVAQFSL
5:70808129-70808129 A>C	0.0	4335	COLON	-	-	-	-	BDP1	ENST00000358731,p.E1374A|uc003kbp.1,p.E1374A|uc003kbo.3,p.E1374A|NM_018429,p.E1374A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003kbp.1	nonsynonymous SNV	exon18	c.A4121C	p.E1374A	MMHTPVEEKRNSEKEVSSHFSHFKI	MMHTPVEEKRNSAKEVSSHFSHFKI	8.0	7.0	-	-	4335_5:70808129-70808129 A>C_MMHTPVEEKRNSAKEVSSHFSHFKI
12:52912820-52912820 C>T	0.0	4335	COLON	-	-	-	-	KRT5	ENST00000549420,p.R117K|uc009zmh.3,p.R227K|ENST00000252242,p.R227K|NM_000424,p.R227K|uc001san.3,p.R227K	retained_intron, protein_coding	uc009zmh.3	nonsynonymous SNV	exon2	c.G680A	p.R227K	LEPLFEQYINNLRRQLDSIVGERGR	LEPLFEQYINNLKRQLDSIVGERGR	10.0	9.0	-	-	4335_12:52912820-52912820 C>T_LEPLFEQYINNLKRQLDSIVGERGR
16:22926525-22926525 G>A	0.0	4335	COLON	-	-	-	-	HS3ST2	uc002dli.3,p.R249H|ENST00000261374,p.R249H|NM_006043,p.R249H	protein_coding, nonsense_mediated_decay	uc002dli.3	nonsynonymous SNV	exon2	c.G746A	p.R249H	TLGLVDVSWNAIRIGMYVLHLESWL	TLGLVDVSWNAIHIGMYVLHLESWL	4.0	10.0	unscreened	-	4335_16:22926525-22926525 G>A_TLGLVDVSWNAIHIGMYVLHLESWL
1:248262890-248262890 G>A	0.0	4335	COLON	-	-	-	-	OR2L13	ENST00000366478,p.M71I|ENST00000358120,p.M71I|NM_175911,p.M71I|uc021pmc.1,p.M71I|uc001ids.3,p.M71I	protein_coding	uc021pmc.1	nonsynonymous SNV	exon1	c.G213A	p.M71I	YFLLSQLSLMDLMYISTTVPKMAYN	YFLLSQLSLMDLIYISTTVPKMAYN	1.0	6.0	unscreened	-	4335_1:248262890-248262890 G>A_YFLLSQLSLMDLIYISTTVPKMAYN
22:19136565-19136565 C>A	0.0	4335	COLON	-	-	-	-	GSC2	uc011ags.2,p.R186L|NM_005315,p.R186L|ENST00000086933,p.R186L	protein_coding	uc011ags.2	nonsynonymous SNV	exon3	c.G557T	p.R186L	FKNRRAKWRHQKRASASARLLPGVK	FKNRRAKWRHQKLASASARLLPGVK	1.0	9.0	unscreened	-	4335_22:19136565-19136565 C>A_FKNRRAKWRHQKLASASARLLPGVK
7:44118259-44118259 T>A	0.0	4335	COLON	-	-	-	-	POLM	ENST00000458246,p.E265V|uc010kxy.2,p.E265V|uc011kbu.1,p.E232V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kbu.1	nonsynonymous SNV	exon4	c.A695T	p.E232V	PGNDNTVHTMHGEANRGS	PGNDNTVHTMHGVANRGS	8.0	5.0	-	-	4335_7:44118259-44118259 T>A_PGNDNTVHTMHGVANRGS
13:53235696-53235696 G>T	0.0	4335	COLON	-	-	-	-	SUGT1	ENST00000343788,p.G139W|NM_001130912,p.G139W|uc001vhc.2,p.G139W	protein_coding, processed_transcript	uc001vhc.2	nonsynonymous SNV	exon6	c.G415T	p.G139W	SSDPPALDSQSAGITGADANFSVWI	SSDPPALDSQSAWITGADANFSVWI	9.0	3.0	unscreened	-	4335_13:53235696-53235696 G>T_SSDPPALDSQSAWITGADANFSVWI
1:19201897-19201897 C>T	1.0	4335	COLON	-	-	-	-	ALDH4A1	ENST00000375341,p.G480E|NM_003748,p.G480E|NM_170726,p.G480E|ENST00000538839,p.G429E|ENST00000538309,p.G420E|uc010ocu.2,p.G420E|uc001bbb.3,p.G480E|NM_001161504,p.G420E|ENST00000290597,p.G480E|uc001bbc.3,p.G480E|uc021ohl.1,p.G429E	protein_coding, processed_transcript	uc021ohl.1	nonsynonymous SNV	exon12	c.G1286A	p.G429E	QLVDSTTSYGLTGAVFSQDKDVVQE	QLVDSTTSYGLTEAVFSQDKDVVQE	5.0	10.0	-	-	4335_1:19201897-19201897 C>T_QLVDSTTSYGLTEAVFSQDKDVVQE
3:119336946-119336946 G>T	0.0	4335	COLON	-	-	-	-	PLA1A	NM_015900,p.A279S|NM_001293225,p.A263S|ENST00000495992,p.A263S|uc011bjc.2,p.A106S|ENST00000488919,p.A106S|NM_001206961,p.A106S|ENST00000273371,p.A279S|uc003ecv.3,p.A263S|uc003ecu.3,p.A279S|ENST00000475963,p.A145S|NM_001206960,p.A263S|ENST00000494440,p.A263S	retained_intron, protein_coding	uc011bjc.2	nonsynonymous SNV	exon6	c.G316T	p.A106S	YISALENSCPLMAFPCASYKAFLAG	YISALENSCPLMSFPCASYKAFLAG	6.0	3.0	-	-	4335_3:119336946-119336946 G>T_YISALENSCPLMSFPCASYKAFLAG
17:51901889-51901889 C>A	0.0	4335	COLON	-	-	-	-	KIF2B	ENST00000268919,p.L499I|uc002iua.2,p.L499I|NM_032559,p.L499I	protein_coding	uc002iua.2	nonsynonymous SNV	exon1	c.C1495A	p.L499I	QNKPHTPFRASKLTLVLRDSFIGQN	QNKPHTPFRASKITLVLRDSFIGQN	1.0	10.0	unscreened	-	4335_17:51901889-51901889 C>A_QNKPHTPFRASKITLVLRDSFIGQN
16:67680638-67680638 A>T	0.0	4335	COLON	-	-	-	-	RLTPR	NM_001013838,p.E163V|uc010vjr.2,p.E163V|uc002etn.3,p.E163V|ENST00000545661,p.E163V|uc010cel.1,p.E163V|ENST00000334583,p.E163V	protein_coding	uc010vjr.2	nonsynonymous SNV	exon7	c.A488T	p.E163V	PCSPCGGFLETYEALCDYNGFPFRE	PCSPCGGFLETYVALCDYNGFPFRE	5.0	3.0	-	-	4335_16:67680638-67680638 A>T_PCSPCGGFLETYVALCDYNGFPFRE
3:19947146-19947146 C>G	0.0	4335	COLON	-	-	-	-	EFHB	NM_144715,p.A462P|ENST00000295824,p.A462P|ENST00000389256,p.A462P|uc003cbm.3,p.A332P|uc003cbl.4,p.A462P|ENST00000440022,p.A199P|ENST00000344838,p.A332P	protein_coding, processed_transcript	uc003cbm.3	nonsynonymous SNV	exon8	c.G994C	p.A332P	VPTPHFNDGRAMAKSLYWLHELQMK	VPTPHFNDGRAMPKSLYWLHELQMK	5.0	7.0	unscreened	-	4335_3:19947146-19947146 C>G_VPTPHFNDGRAMPKSLYWLHELQMK
20:5283045-5283045 G>A	0.0	4335	COLON	-	-	ID=COSM1165632;OCCURENCE=1(large_intestine)	-	PROKR2	uc010zqx.2,p.R266W|uc010zqw.2,p.R266W|ENST00000546004,p.R266W|NM_144773,p.R266W|ENST00000217270,p.R266W|uc010zqy.2,p.R266W	protein_coding	uc010zqy.2	nonsynonymous SNV	exon3	c.C796T	p.R266W	AVPGFQTEQIRKRLRCRRKTVLVLM	AVPGFQTEQIRKWLRCRRKTVLVLM	1.0	10.0	unscreened	-	4335_20:5283045-5283045 G>A_AVPGFQTEQIRKWLRCRRKTVLVLM
14:50218375-50218375 T>G	0.0	4335	COLON	-	-	-	-	KLHDC1	NM_172193,p.L369R|ENST00000359332,p.L369R|uc001www.3,p.L369R|uc010tqh.2,p.L284R|uc010tqg.2,p.L324R	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tqh.2	nonsynonymous SNV	exon13	c.T851G	p.L284R	MLESQISLLPPKLLQQVLKKITFWA	MLESQISLLPPKRLQQVLKKITFWA	6.0	6.0	-	-	4335_14:50218375-50218375 T>G_MLESQISLLPPKRLQQVLKKITFWA
13:53235697-53235697 G>C	0.0	4335	COLON	-	-	-	-	SUGT1	ENST00000343788,p.G139A|NM_001130912,p.G139A|uc001vhc.2,p.G139A	protein_coding, processed_transcript	uc001vhc.2	nonsynonymous SNV	exon6	c.G416C	p.G139A	SSDPPALDSQSAGITGADANFSVWI	SSDPPALDSQSAAITGADANFSVWI	9.0	3.0	unscreened	-	4335_13:53235697-53235697 G>C_SSDPPALDSQSAAITGADANFSVWI
4:158257861-158257862 GG>-	0.0	4335	COLON	-	-	-	-	GRIA2	uc003ipm.4,p.L602fs|uc003ipk.4,p.L555fs|ENST00000393815,p.L555fs|ENST00000507898,p.L555fs|uc003ipl.4,p.L602fs|ENST00000449365,p.L555fs|ENST00000323661,p.L555fs|NM_001083619,p.L602fs|NM_000826,p.L602fs|NM_001083620,p.L555fs|ENST00000264426,p.L602fs|uc011cit.2,p.L555fs|ENST00000296526,p.L602fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cit.2	frameshift deletion	exon11	c.1665_1666del	p.L555fs	NEFGIFNSLWFSLGAFMQQGCDISPR	NEFGIFNSLWFSLCLYAARMRYFAKIPLWAHCWRCVVVLYPDHNLLLHG	3.0	2.0	unscreened	-	4335_4:158257861-158257862 GG>-_NEFGIFNSLWFSLCLYAARMRYFAKIPLWAHCWRCVVVLYPDHNLLLHG
14:74371619-74371619 T>C	1.0	4335	COLON	-	-	-	-	ZNF410	NM_001242924,p.F266S|ENST00000555044,p.F249S|ENST00000334521,p.F196S|uc001xoz.2,p.F249S|ENST00000540593,p.F176S|uc010tuh.2,p.F176S|ENST00000324593,p.F249S|uc010arz.2,p.F266S|uc001xpb.2,p.F249S|NM_021188,p.F249S|NM_001242927,p.F176S|ENST00000442160,p.F266S|NM_001242926,p.F249S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tuh.2	nonsynonymous SNV	exon6	c.T527C	p.F176S	KYHLKTHRNDRSFICPAEGCGKSFY	KYHLKTHRNDRSSICPAEGCGKSFY	8.0	6.0	-	-	4335_14:74371619-74371619 T>C_KYHLKTHRNDRSSICPAEGCGKSFY
5:21760727-21760727 A>G	0.0	4335	COLON	-	-	-	-	CDH12	uc010iuc.2,p.S525P|NM_004061,p.S525P|ENST00000504376,p.S525P|uc011cno.1,p.S485P|ENST00000522262,p.S485P|uc003jgk.2,p.S525P|ENST00000382254,p.S525P	retained_intron, protein_coding, processed_transcript	uc011cno.1	nonsynonymous SNV	exon10	c.T1453C	p.S485P	ADRDLSPAGQQFSFRLSPEAAIKPN	ADRDLSPAGQQFPFRLSPEAAIKPN	3.0	10.0	unscreened	-	4335_5:21760727-21760727 A>G_ADRDLSPAGQQFPFRLSPEAAIKPN
14:76121310-76121310 A>G	1.0	4335	COLON	-	-	-	-	C14orf1	uc001xrt.3,p.L48P|NM_007176,p.L48P|ENST00000256319,p.L48P	protein_coding	uc001xrt.3	nonsynonymous SNV	exon3	c.T143C	p.L48P	KLYTGKPNLVNGLQARTFGIWTLLS	KLYTGKPNLVNGPQARTFGIWTLLS	7.0	5.0	-	-	4335_14:76121310-76121310 A>G_KLYTGKPNLVNGPQARTFGIWTLLS
11:1092926-1092926 C>G	1.0	4335	COLON	-	-	-	-	MUC2	ENST00000441003,p.T1582R	protein_coding	ENST00000441003	nonsynonymous SNV	exon30	c.C4745G	p.T1582R	TPTPTPTGTQTPTSTPITTTTTVTP	TPTPTPTGTQTPRSTPITTTTTVTP	10.0	1.0	unscreened	-	4335_11:1092926-1092926 C>G_TPTPTPTGTQTPRSTPITTTTTVTP
19:15918201-15918201 A>C	0.0	4335	COLON	-	-	-	-	OR10H1	NM_013940,p.L216R|ENST00000334920,p.L216R|uc002nbq.2,p.L216R	protein_coding	uc002nbq.2	nonsynonymous SNV	exon1	c.T647G	p.L216R	CITALLGCFLLILLSYAFIVAAILK	CITALLGCFLLIRLSYAFIVAAILK	1.0	4.0	unscreened	-	4335_19:15918201-15918201 A>C_CITALLGCFLLIRLSYAFIVAAILK
1:154091190-154091190 A>C	0.0	4335	COLON	-	-	-	-	NUP210L	ENST00000368559,p.F474C|NM_001159484,p.F474C|NM_207308,p.F474C|uc010peh.2,p.F474C|uc001fdw.3,p.F474C|ENST00000271854,p.F474C	protein_coding	uc010peh.2	nonsynonymous SNV	exon11	c.T1421G	p.F474C	YFPIMLTPKFLAFPHHPMGMLYRYK	YFPIMLTPKFLACPHHPMGMLYRYK	4.0	8.0	unscreened	-	4335_1:154091190-154091190 A>C_YFPIMLTPKFLACPHHPMGMLYRYK
6:38980396-38980396 G>T	0.0	4335	COLON	-	-	-	-	DNAH8	ENST00000359357,p.G4349V|uc003ooe.2,p.G4349V|ENST00000441566,p.G4313V|NM_001206927,p.G4566V|uc021yzh.1,p.G4566V|ENST00000327475,p.G4554V	protein_coding	uc021yzh.1	nonsynonymous SNV	exon91	c.G13697T	p.G4566V	IFEGRPNVFWMTGFFNPQGFLTAMR	IFEGRPNVFWMTVFFNPQGFLTAMR	2.0	6.0	unscreened	-	4335_6:38980396-38980396 G>T_IFEGRPNVFWMTVFFNPQGFLTAMR
7:286413-286413 T>C	0.0	4335	COLON	-	-	-	-	FAM20C	ENST00000313766,p.F299S|NM_020223,p.F299S|uc003sip.3,p.F299S	retained_intron, protein_coding, processed_transcript	uc003sip.3	nonsynonymous SNV	exon4	c.T896C	p.F299S	MKQTREQETPPDFFYFSDYERHNAE	MKQTREQETPPDSFYFSDYERHNAE	7.0	3.0	-	-	4335_7:286413-286413 T>C_MKQTREQETPPDSFYFSDYERHNAE
1:152277217-152277217 C>A	0.0	4335	COLON	-	-	-	-	FLG	uc001ezu.1,p.R3382L|ENST00000368799,p.R3382L|NM_002016,p.R3382L	protein_coding	uc001ezu.1	nonsynonymous SNV	exon3	c.G10145T	p.R3382L	ESARDRSGGRSGRSGSFLYQVSTHE	ESARDRSGGRSGLSGSFLYQVSTHE	3.0	6.0	unscreened	-	4335_1:152277217-152277217 C>A_ESARDRSGGRSGLSGSFLYQVSTHE
8:133101783-133101783 T>C	0.0	4335	COLON	-	-	-	-	HHLA1	uc011liy.1,p.K171R|ENST00000434736,p.K207R|ENST00000414222,p.K171R|NM_001145095,p.K171R	retained_intron, protein_coding	uc011liy.1	nonsynonymous SNV	exon7	c.A512G	p.K171R	IGNSTSYLTEIFKSTSILSVNQSNE	IGNSTSYLTEIFRSTSILSVNQSNE	1.0	5.0	unscreened	-	4335_8:133101783-133101783 T>C_IGNSTSYLTEIFRSTSILSVNQSNE
15:89382010-89382010 G>A	0.0	4335	COLON	-	-	-	-	ACAN	uc010upp.1,p.A63T|ENST00000561243,p.A63T|ENST00000439576,p.A63T|ENST00000352105,p.A63T|uc002bmx.3,p.A63T|uc010upo.1,p.A63T|ENST00000559004,p.A63T|NM_013227,p.A63T|ENST00000558207,p.A63T|NM_001135,p.A63T	retained_intron, protein_coding	uc010upp.1	nonsynonymous SNV	exon3	c.G187A	p.A63T	CYFIDPMHPVTTAPSTAPLAPRIKW	CYFIDPMHPVTTTPSTAPLAPRIKW	6.0	10.0	-	-	4335_15:89382010-89382010 G>A_CYFIDPMHPVTTTPSTAPLAPRIKW
X:107840785-107840785 C>T	0.0	4335	COLON	-	-	-	-	COL4A5	uc022ccg.2,p.P589L|ENST00000361603,p.P589L|uc004enz.2,p.P589L|ENST00000328300,p.P589L|uc004eob.1,p.P197L|NM_000495,p.P589L	retained_intron, protein_coding, processed_transcript	uc022ccg.2	nonsynonymous SNV	exon24	c.C1766T	p.P589L	TPGQDGLPGLPGPKGEPGGITFKGE	TPGQDGLPGLPGLKGEPGGITFKGE	8.0	10.0	-	-	4335_X:107840785-107840785 C>T_TPGQDGLPGLPGLKGEPGGITFKGE
2:39997173-39997173 C>T	0.0	4335	COLON	-	-	-	-	THUMPD2	ENST00000505747,p.E117K|uc002rru.2,p.E117K|uc010ynt.1,p.E24K|ENST00000260619,p.E87K|ENST00000378727,p.E117K|ENST00000454352,p.E87K|NM_025264,p.E117K|uc010ynu.1,p.E117K|ENST00000510781,p.E88K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ynu.1	nonsynonymous SNV	exon3	c.G349A	p.E117K	WLNAISIWKNLLELDAKKEKLSQRD	WLNAISIWKNLLKLDAKKEKLSQRD	7.0	7.0	-	-	4335_2:39997173-39997173 C>T_WLNAISIWKNLLKLDAKKEKLSQRD
9:21481552-21481552 A>C	0.0	4335	COLON	-	-	-	-	IFNE	NM_176891,p.L48V|uc003zpg.3,p.L48V|ENST00000448696,p.L48V	protein_coding	uc003zpg.3	nonsynonymous SNV	exon1	c.T142G	p.L48V	QESLKLLNKLQTLSIQQCLPHRKNF	QESLKLLNKLQTVSIQQCLPHRKNF	2.0	9.0	unscreened	-	4335_9:21481552-21481552 A>C_QESLKLLNKLQTVSIQQCLPHRKNF
19:44039687-44039687 C>T	0.0	4335	COLON	-	-	-	-	ZNF575	ENST00000458714,p.R295C|ENST00000601282,p.R196C|uc002owq.3,p.R295C|ENST00000314228,p.R196C|NM_174945,p.R196C|uc002ows.3,p.R196C	retained_intron, protein_coding	uc002ows.3	nonsynonymous SNV	exon4	c.C586T	p.R196C	KAFSFPSKLAAHRLCHDPPTAPGSQ	KAFSFPSKLAAHCLCHDPPTAPGSQ	5.0	7.0	-	-	4335_19:44039687-44039687 C>T_KAFSFPSKLAAHCLCHDPPTAPGSQ
4:138452617-138452617 T>G	0.0	4335	COLON	-	-	-	-	PCDH18	NM_019035,p.K209T|NM_001300828,p.K209T|ENST00000344876,p.K209T|ENST00000412923,p.K209T|uc003ihe.4,p.K209T|uc003ihf.4,p.K202T	protein_coding	uc003ihf.4	nonsynonymous SNV	exon1	c.A605C	p.K202T	ELIVVRELDRELKSSYELQLTASDM	ELIVVRELDRELTSSYELQLTASDM	5.0	2.0	-	-	4335_4:138452617-138452617 T>G_ELIVVRELDRELTSSYELQLTASDM
10:25464945-25464945 G>T	0.0	4335	COLON	-	-	-	-	GPR158	ENST00000376351,p.S199I|NM_020752,p.S199I|uc001isj.3,p.S199I	protein_coding, processed_transcript	uc001isj.3	nonsynonymous SNV	exon1	c.G596T	p.S199I	APQVFLQATREESRILLQDLSSSAP	APQVFLQATREEIRILLQDLSSSAP	3.0	5.0	unscreened	-	4335_10:25464945-25464945 G>T_APQVFLQATREEIRILLQDLSSSAP
7:144096133-144096133 A>G	0.0	4335	COLON	-	-	-	-	NOBOX	NM_001080413,p.V460A|ENST00000483238,p.V428A|ENST00000223140,p.V343A|ENST00000467773,p.V460A|uc022aoj.1,p.V460A	protein_coding	uc022aoj.1	nonsynonymous SNV	exon8	c.T1379C	p.V460A	VRRADLPFPLGPVHTPQLMPLLMDV	VRRADLPFPLGPAHTPQLMPLLMDV	1.0	9.0	unscreened	-	4335_7:144096133-144096133 A>G_VRRADLPFPLGPAHTPQLMPLLMDV
3:8665326-8665326 T>C	0.0	4335	COLON	-	-	-	-	SSUH2	uc003bqz.4,p.D275G|NM_015931,p.D275G|uc003bqy.4,p.D275G|NM_001256749,p.D224G|uc011atg.3,p.D297G|ENST00000544814,p.D297G|uc003bqv.4,p.D224G|ENST00000341795,p.D275G|uc003bqu.4,p.D275G|NM_001256748,p.D297G|ENST00000317371,p.D275G|uc003bqt.4,p.D224G|ENST00000415132,p.D275G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011atg.3	nonsynonymous SNV	exon11	c.A890G	p.D297G	FKDENSVVYPIVDFPLRDISLASQR	FKDENSVVYPIVGFPLRDISLASQR	3.0	6.0	unscreened	-	4335_3:8665326-8665326 T>C_FKDENSVVYPIVGFPLRDISLASQR
12:40748184-40748184 G>T	0.0	4335	COLON	-	-	-	-	LRRK2	uc009zjw.3,p.Q1058H|uc001rmg.4,p.Q2220H|NM_198578,p.Q2220H|uc001rmi.3,p.Q1053H|ENST00000298910,p.Q2220H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zjw.3	nonsynonymous SNV	exon24	c.G3174T	p.Q1058H	PVEKESWIVSGTQSGTLLVINTEDG	PVEKESWIVSGTHSGTLLVINTEDG	8.0	4.0	unscreened	-	4335_12:40748184-40748184 G>T_PVEKESWIVSGTHSGTLLVINTEDG
19:3586966-3586966 G>A	0.0	4335	COLON	-	-	-	-	GIPC3	ENST00000322315,p.R189H|NM_133261,p.R189H|uc002lyd.4,p.R189H	protein_coding	uc002lyd.4	nonsynonymous SNV	exon3	c.G566A	p.R189H	LRELPKSQPFTLRLVQPKRAFDMIG	LRELPKSQPFTLHLVQPKRAFDMIG	4.0	10.0	unscreened	-	4335_19:3586966-3586966 G>A_LRELPKSQPFTLHLVQPKRAFDMIG
8:23560425-23560425 G>A	0.0	4335	COLON	-	-	-	-	NKX2-6	ENST00000325017,p.R149W|NM_001136271,p.R149W|ENST00000418222,p.R67W|uc011kzy.3,p.R149W	protein_coding	uc011kzy.3	nonsynonymous SNV	exon2	c.C445T	p.R149W	VLFSQAQVLALERRFKQQRYLSAPE	VLFSQAQVLALEWRFKQQRYLSAPE	1.0	10.0	unscreened	-	4335_8:23560425-23560425 G>A_VLFSQAQVLALEWRFKQQRYLSAPE
4:53610190-53610190 A>G	0.0	4335	COLON	-	-	-	-	ERVMER34-1	uc003gzr.3,p.C500R|NM_001242690,p.C500R|uc003gzs.3,p.C500R|NM_024534,p.C500R|ENST00000540758,p.C500R|ENST00000443173,p.C500R|ENST00000440542,p.C500R	protein_coding, processed_transcript	uc003gzs.3	nonsynonymous SNV	exon3	c.T1498C	p.C500R	RSWGYVLLIVLFCLFIFVLIYVRVF	RSWGYVLLIVLFRLFIFVLIYVRVF	2.0	2.0	unscreened	-	4335_4:53610190-53610190 A>G_RSWGYVLLIVLFRLFIFVLIYVRVF
8:144941537-144941537 T>C	1.0	4335	COLON	-	-	-	-	EPPK1	NM_031308,p.E1962G|uc003zaa.1,p.E1962G|ENST00000525985,p.E1962G	protein_coding	uc003zaa.1	nonsynonymous SNV	exon1	c.A5885G	p.E1962G	SVDEAVDVGLVNEELRERLLKAERA	SVDEAVDVGLVNGELRERLLKAERA	10.0	1.0	-	-	4335_8:144941537-144941537 T>C_SVDEAVDVGLVNGELRERLLKAERA
11:1092926-1092926 C>G	1.0	4335	COLON	-	-	-	-	MUC2	ENST00000359061,p.T1583R	protein_coding	ENST00000359061	nonsynonymous SNV	exon30	c.C4748G	p.T1583R	TPTPTPTGTQTPTSTPITTTTTTPT	TPTPTPTGTQTPRSTPITTTTTTPT	10.0	1.0	unscreened	-	4335_11:1092926-1092926 C>G_TPTPTPTGTQTPRSTPITTTTTTPT
12:8374542-8374542 A>T	0.0	4335	COLON	-	-	-	-	FAM90A1	uc001quh.2,p.L424H|uc001qui.2,p.L424H|ENST00000307435,p.L424H|NM_018088,p.L424H|ENST00000538603,p.L424H	protein_coding	uc001qui.2	nonsynonymous SNV	exon7	c.T1271A	p.L424H	PSFHSPEKPGAFLAQSPHVSEKSEG	PSFHSPEKPGAFHAQSPHVSEKSEG	8.0	8.0	-	-	4335_12:8374542-8374542 A>T_PSFHSPEKPGAFHAQSPHVSEKSEG
2:170070225-170070225 T>G	0.0	4335	COLON	-	-	-	-	LRP2	uc002ues.3,p.K1994N|ENST00000263816,p.K1994N|NM_004525,p.K1994N	retained_intron, protein_coding, processed_transcript	uc002ues.3	nonsynonymous SNV	exon36	c.A5982C	p.K1994N	VIERVDKATGANKIVLRDNVPNLRG	VIERVDKATGANNIVLRDNVPNLRG	6.0	8.0	-	-	4335_2:170070225-170070225 T>G_VIERVDKATGANNIVLRDNVPNLRG
22:44131761-44131761 T>G	0.0	4335	COLON	-	-	-	-	EFCAB6	ENST00000356087,p.K101T|ENST00000358439,p.K101T|NM_022785,p.K207T|ENST00000262726,p.K207T|ENST00000396231,p.K55T|NM_198856,p.K55T|uc003bea.2,p.K204T|uc003bdy.2,p.K207T|uc010gzi.2,p.K55T|uc003beb.4,p.K101T|uc003bdz.2,p.K55T|uc011aqa.2,p.K101T	retained_intron, protein_coding, processed_transcript	uc011aqa.2	nonsynonymous SNV	exon5	c.A302C	p.K101T	QELRRVLETFCMKLRDEEYEKFSKH	QELRRVLETFCMTLRDEEYEKFSKH	4.0	5.0	unscreened	-	4335_22:44131761-44131761 T>G_QELRRVLETFCMTLRDEEYEKFSKH
10:13337502-13337502 C>T	1.0	4335	COLON	-	-	-	-	PHYH	NM_006214,p.R80H|ENST00000396920,p.R61H|ENST00000263038,p.R80H|uc001imf.3,p.R80H|ENST00000479604,p.R80H	retained_intron, protein_coding	uc001imf.3	nonsynonymous SNV	exon3	c.G239A	p.R80H	VIKNLVPDADIQRFRNEFEKICRKE	VIKNLVPDADIQHFRNEFEKICRKE	8.0	7.0	-	-	4335_10:13337502-13337502 C>T_VIKNLVPDADIQHFRNEFEKICRKE
3:127642015-127642017 AGA>-	0.0	4335	COLON	-	-	-	-	KBTBD12	NM_207335,p.37_38del|uc003ejz.2,p.37_38del|ENST00000405256,p.37_38del|ENST00000405109,p.37_38del|uc010hsr.3,p.37_38del	retained_intron, protein_coding, processed_transcript	uc010hsr.3	nonframeshift deletion	exon1	c.111_113del	p.37_38del	KELAEMIDVVLTAEGEKFPCHRLVLA	KELAEMIDVVLTAGEKFPCHRLVLA	3.0	7.0	unscreened	-	4335_3:127642015-127642017 AGA>-_KELAEMIDVVLTAGEKFPCHRLVLA
9:116930035-116930035 T>G	0.0	4335	COLON	-	-	-	-	COL27A1	ENST00000451716,p.V14G|NM_032888,p.V67G|uc011lxl.2,p.V67G|ENST00000356083,p.V67G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lxl.2	nonsynonymous SNV	exon3	c.T200G	p.V67G	SWTKAGSPAPPGVIPFQSGFIFTQR	SWTKAGSPAPPGGIPFQSGFIFTQR	8.0	3.0	-	-	4335_9:116930035-116930035 T>G_SWTKAGSPAPPGGIPFQSGFIFTQR
11:59245507-59245507 A>T	0.0	4335	COLON	-	-	-	-	OR4D10	NM_001004705,p.N202I|uc001nnz.1,p.N202I|ENST00000530162,p.N202I	protein_coding	uc001nnz.1	nonsynonymous SNV	exon1	c.A605T	p.N202I	TDIFILELLMISNNGLLTTLWFFLL	TDIFILELLMISINGLLTTLWFFLL	1.0	4.0	unscreened	-	4335_11:59245507-59245507 A>T_TDIFILELLMISINGLLTTLWFFLL
20:21689953-21689953 G>A	0.0	4335	COLON	-	-	-	-	PAX1	uc010zsl.3,p.G385S|NM_001257096,p.G385S|uc002wsj.3,p.G385S|ENST00000398485,p.G385S|ENST00000444366,p.G361S|NM_006192,p.G385S|uc010zsm.3,p.G361S	retained_intron, protein_coding, processed_transcript	uc010zsm.3	nonsynonymous SNV	exon3	c.G1081A	p.G361S	SNQHGVYSAPGGGYLAPGPPWPPAQ	SNQHGVYSAPGGSYLAPGPPWPPAQ	1.0	10.0	unscreened	-	4335_20:21689953-21689953 G>A_SNQHGVYSAPGGSYLAPGPPWPPAQ
4:57220918-57220918 T>C	0.0	4335	COLON	-	-	-	-	AASDH	uc003hbn.3,p.D388G|ENST00000513376,p.D288G|NM_181806,p.D388G|uc003hbo.3,p.D288G|uc010ihc.3,p.D388G|uc003hbp.3,p.D388G|NM_001286671,p.D388G|NM_001286669,p.D235G|uc011caa.2,p.D235G|ENST00000451613,p.D388G|NM_001286672,p.D388G|NM_001286668,p.D288G|ENST00000602986,p.D235G|ENST00000205214,p.D388G|ENST00000502617,p.D388G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011caa.2	nonsynonymous SNV	exon6	c.A704G	p.D235G	GFPLLGTVVEVRDTNGFTIQEGSGQ	GFPLLGTVVEVRGTNGFTIQEGSGQ	7.0	8.0	-	-	4335_4:57220918-57220918 T>C_GFPLLGTVVEVRGTNGFTIQEGSGQ
11:12316387-12316389 CTA>-	1.0	4335	COLON	-	-	ID=COSM128728;OCCURENCE=1(skin),1(upper_aerodigestive_tract),1(oesophagus)	-	MICALCL	uc001mkg.1,p.470_471del|NM_032867,p.470_471del|ENST00000256186,p.470_471del	protein_coding, processed_transcript	uc001mkg.1	nonframeshift deletion	exon3	c.1409_1411del	p.470_471del	PPPPPPPPPPPPPTAGGADSKNFPLR	PPPPPPPPPPPPPAGGADSKNFPLR	5.0	10.0	unscreened	-	4335_11:12316387-12316389 CTA>-_PPPPPPPPPPPPPAGGADSKNFPLR
4:126239730-126239730 G>T	0.0	4335	COLON	-	-	-	1	FAT4	ENST00000394329,p.G722C|NM_001291303,p.G722C|NM_024582,p.G722C|uc003ifj.4,p.G722C|NM_001291285,p.G722C	retained_intron, protein_coding	uc003ifj.4	nonsynonymous SNV	exon1	c.G2164T	p.G722C	TVSATDPDLGTNGTVKYSISAGDRS	TVSATDPDLGTNCTVKYSISAGDRS	5.0	5.0	-	-	4335_4:126239730-126239730 G>T_TVSATDPDLGTNCTVKYSISAGDRS
16:30974848-30974848 C>G	1.0	4335	COLON	-	-	-	-	SETD1A	uc002eae.1,p.F204L|ENST00000452917,p.F204L|uc002ead.1,p.F204L|ENST00000262519,p.F204L|NM_014712,p.F204L	protein_coding	uc002eae.1	nonsynonymous SNV	exon5	c.C612G	p.F204L	TVPTGGKALSEKFQGSGAATETAES	TVPTGGKALSEKLQGSGAATETAES	7.0	9.0	-	-	4335_16:30974848-30974848 C>G_TVPTGGKALSEKLQGSGAATETAES
3:182554247-182554247 A>C	0.0	4335	COLON	-	-	-	-	ATP11B	uc003flb.3,p.T181P|NM_014616,p.T181P|ENST00000323116,p.T181P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003flb.3	nonsynonymous SNV	exon6	c.A541C	p.T181P	SCHVTTASLDGETNLKTHVAVPETA	SCHVTTASLDGEPNLKTHVAVPETA	8.0	2.0	-	-	4335_3:182554247-182554247 A>C_SCHVTTASLDGEPNLKTHVAVPETA
X:136113140-136113140 G>T	0.0	4335	COLON	-	-	-	-	GPR101	uc011mwh.2,p.H232N|NM_054021,p.H232N|ENST00000298110,p.H232N	protein_coding	uc011mwh.2	nonsynonymous SNV	exon1	c.C694A	p.H232N	RRQHALLYNVKRHSLEVRVKDCVEN	RRQHALLYNVKRNSLEVRVKDCVEN	1.0	10.0	unscreened	-	4335_X:136113140-136113140 G>T_RRQHALLYNVKRNSLEVRVKDCVEN
19:40006153-40006153 G>A	0.0	4335	COLON	-	-	-	-	SELV	ENST00000423711,p.V101I	retained_intron, protein_coding, nonsense_mediated_decay	ENST00000423711	nonsynonymous SNV	exon1	c.G301A	p.V101I	APAWIPTPVPTPVPVRNPTPVPTPA	APAWIPTPVPTPIPVRNPTPVPTPA	1.0	8.0	unscreened	-	4335_19:40006153-40006153 G>A_APAWIPTPVPTPIPVRNPTPVPTPA
8:104312488-104312488 G>T	1.0	4335	COLON	-	-	-	-	FZD6	uc011lho.2,p.R3I|ENST00000540287,p.R3I	protein_coding, nonsense_mediated_decay	uc011lho.2	nonsynonymous SNV	exon2	c.G8T	p.R3I	MTRVLPRWKWSCEAI	MTIVLPRWKWSCEAI	7.0	10.0	unscreened	-	4335_8:104312488-104312488 G>T_MTIVLPRWKWSCEAI
17:72923765-72923765 G>A	0.0	4335	COLON	-	-	ID=COSM246314;OCCURENCE=1(prostate)	-	OTOP2	ENST00000580223,p.G172D|ENST00000331427,p.G172D|NM_178160,p.G172D|uc010wrp.2,p.G172D	retained_intron, protein_coding	uc010wrp.2	nonsynonymous SNV	exon5	c.G515A	p.G172D	DCVHVHLDLTWCGLMFTLTTNLAIW	DCVHVHLDLTWCDLMFTLTTNLAIW	1.0	10.0	unscreened	-	4335_17:72923765-72923765 G>A_DCVHVHLDLTWCDLMFTLTTNLAIW
1:1231956-1231956 G>A	0.0	4335	COLON	-	-	-	-	ACAP3	uc001aeb.2,p.R396W|ENST00000354700,p.R396W|ENST00000353662,p.R354W|uc001ady.2,p.R126W|uc001aea.2,p.R354W|NM_030649,p.R396W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001aeb.2	nonsynonymous SNV	exon15	c.C1186T	p.R396W	PSTSSIDSATDTRERGVKGESVLQR	PSTSSIDSATDTWERGVKGESVLQR	8.0	6.0	-	-	4335_1:1231956-1231956 G>A_PSTSSIDSATDTWERGVKGESVLQR
14:105055008-105055008 G>A	0.0	4335	COLON	-	-	-	-	C14orf180	NM_001008404,p.R124Q|ENST00000410013,p.R124Q|uc001yow.1,p.R124Q|ENST00000557649,p.R124Q|NM_001286400,p.R124Q	protein_coding	uc001yow.1	nonsynonymous SNV	exon5	c.G371A	p.R124Q	VLLVLALGLYCGRAKPVATALEDLR	VLLVLALGLYCGQAKPVATALEDLR	1.0	5.0	unscreened	-	4335_14:105055008-105055008 G>A_VLLVLALGLYCGQAKPVATALEDLR
2:189870947-189870947 G>T	0.0	4335	COLON	-	-	-	2	COL3A1	NM_000090,p.D1019Y|ENST00000304636,p.D1019Y|uc002uqj.1,p.D1019Y	retained_intron, protein_coding	uc002uqj.1	nonsynonymous SNV	exon42	c.G3055T	p.D1019Y	AGEPGRDGNPGSDGLPGRDGSPGGK	AGEPGRDGNPGSYGLPGRDGSPGGK	10.0	8.0	-	-	4335_2:189870947-189870947 G>T_AGEPGRDGNPGSYGLPGRDGSPGGK
3:119112367-119112367 G>T	0.0	4335	COLON	-	-	ID=COSM359827;OCCURENCE=1(lung)	-	ARHGAP31	NM_020754,p.R312L|uc003ecj.4,p.R312L|ENST00000264245,p.R312L	protein_coding	uc003ecj.4	nonsynonymous SNV	exon8	c.G935T	p.R312L	KSKKWKSIFNLGRSGSDSKSKLSRN	KSKKWKSIFNLGLSGSDSKSKLSRN	9.0	7.0	-	-	4335_3:119112367-119112367 G>T_KSKKWKSIFNLGLSGSDSKSKLSRN
11:17531037-17531037 C>T	0.0	4335	COLON	-	-	-	-	USH1C	ENST00000005226,p.E627K|NM_153676,p.E627K|uc001mne.3,p.E627K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, TEC	uc001mne.3	nonsynonymous SNV	exon18	c.G1879A	p.E627K	DLTPTRPLPSALEEALSNHPFRTGD	DLTPTRPLPSALKEALSNHPFRTGD	8.0	6.0	-	-	4335_11:17531037-17531037 C>T_DLTPTRPLPSALKEALSNHPFRTGD
1:156846244-156846244 A>C	0.0	4335	COLON	-	-	-	1	NTRK1	ENST00000524377,p.E562A|ENST00000358660,p.E559A|ENST00000392302,p.E526A|ENST00000368196,p.E556A|NM_001012331,p.E556A|NM_001007792,p.E526A|uc009wsk.1,p.E559A|NM_002529,p.E562A|uc001fqi.1,p.E556A|uc009wsi.1,p.E261A|uc001fqh.1,p.E562A|uc001fqf.1,p.E526A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009wsk.1	nonsynonymous SNV	exon13	c.A1676C	p.E559A	SESARQDFQREAELLTMLQHQHIVR	SESARQDFQREAALLTMLQHQHIVR	5.0	4.0	-	-	4335_1:156846244-156846244 A>C_SESARQDFQREAALLTMLQHQHIVR
19:9088041-9088041 A>C	0.0	4335	COLON	-	-	-	2	MUC16	ENST00000397910,p.S1258R|NM_024690,p.S1258R|uc002mkp.3,p.S1258R	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon1	c.T3774G	p.S1258R	TNTPSIHLGAHASSESPSTIKLTMA	TNTPSIHLGAHARSESPSTIKLTMA	9.0	1.0	-	-	4335_19:9088041-9088041 A>C_TNTPSIHLGAHARSESPSTIKLTMA
14:94953662-94953662 A>G	0.0	4335	COLON	-	-	-	-	SERPINA12	uc001ydj.3,p.I408T|ENST00000556881,p.I408T|NM_173850,p.I408T|ENST00000341228,p.I408T	protein_coding	uc001ydj.3	nonsynonymous SNV	exon6	c.T1223C	p.I408T	SEKIPSVLFLGKIVNPIGK	SEKIPSVLFLGKTVNPIGK	1.0	6.0	unscreened	-	4335_14:94953662-94953662 A>G_SEKIPSVLFLGKTVNPIGK
11:1092926-1092926 C>G	1.0	4335	COLON	-	-	-	-	MUC2	uc001lsx.1,p.T1582R|NM_002457,p.T1582R	protein_coding	uc001lsx.1	nonsynonymous SNV	exon31	c.C4745G	p.T1582R	TTPPPTTTPSPPTTTTPSPPTITTT	TTPPPTTTPSPPRTTTPSPPTITTT	10.0	1.0	unscreened	-	4335_11:1092926-1092926 C>G_TTPPPTTTPSPPRTTTPSPPTITTT
20:18460763-18460763 G>A	0.0	4335	COLON	-	-	-	-	POLR3F	NM_001282526,p.D130N|ENST00000377603,p.D171N|uc002wqx.3,p.D130N|uc002wqv.3,p.D171N|NM_006466,p.D171N	protein_coding, processed_transcript	uc002wqx.3	nonsynonymous SNV	exon6	c.G388A	p.D130N	RSVTGGAWYSDQDFESEFVEVLNQQ	RSVTGGAWYSDQNFESEFVEVLNQQ	5.0	8.0	unscreened	-	4335_20:18460763-18460763 G>A_RSVTGGAWYSDQNFESEFVEVLNQQ
11:6621396-6621396 A>T	0.0	4335	COLON	-	-	-	-	RRP8	ENST00000254605,p.C451S|uc001med.3,p.C451S|NM_015324,p.C451S|ENST00000534343,p.C135S	retained_intron, protein_coding, nonsense_mediated_decay	uc001med.3	nonsynonymous SNV	exon7	c.T1351A	p.C451S	PKAQLSGLQLQPCLYKRR	PKAQLSGLQLQPSLYKRR	5.0	7.0	-	-	4335_11:6621396-6621396 A>T_PKAQLSGLQLQPSLYKRR
13:37591461-37591461 T>A	0.0	4335	COLON	-	-	-	-	SUPT20H	uc001uwf.3,p.Q204L	retained_intron, protein_coding, processed_transcript	uc001uwf.3	nonsynonymous SNV	exon8	c.A611T	p.Q204L	TSSLRPLNLLQQQQQQLSQFTPQQP	TSSLRPLNLLQQLQQQLSQFTPQQP	7.0	3.0	-	-	4335_13:37591461-37591461 T>A_TSSLRPLNLLQQLQQQLSQFTPQQP
2:152496564-152496564 T>G	0.0	4335	COLON	-	-	-	-	NEB	uc002txu.3,p.K2899T|uc031rpp.1,p.K2899T|ENST00000397345,p.K2899T|NM_001271208,p.K2899T|ENST00000427231,p.K2899T|ENST00000409198,p.K2899T|ENST00000604864,p.K2899T|NM_004543,p.K2899T|ENST00000603639,p.K2899T|NM_001164507,p.K2899T|uc021vrc.1,p.K2899T|NM_001164508,p.K2899T|ENST00000172853,p.K2899T|uc010fnx.3,p.K2899T|uc021vrd.1,p.K2899T|uc021vrb.1,p.K2899T	retained_intron, protein_coding, processed_transcript	uc031rpp.1	nonsynonymous SNV	exon62	c.A8696C	p.K2899T	RQAYDLQSDNMYKSDLQWMRGIGWV	RQAYDLQSDNMYTSDLQWMRGIGWV	5.0	7.0	-	-	4335_2:152496564-152496564 T>G_RQAYDLQSDNMYTSDLQWMRGIGWV
17:1960105-1960105 G>A	0.0	4335	COLON	-	-	-	-	HIC1	ENST00000322941,p.A60T|uc002ftz.4,p.A41T|NM_001098202,p.A60T|ENST00000399849,p.A41T|uc002fty.4,p.A41T|uc021tnn.1,p.A41T|ENST00000571990,p.A41T|NM_006497,p.A41T|uc010cjy.3,p.A60T|ENST00000576444,p.A41T	protein_coding, processed_transcript	uc021tnn.1	nonsynonymous SNV	exon1	c.G121A	p.A41T	DVIIVVQNALFRAHKNVLAASSAYL	DVIIVVQNALFRTHKNVLAASSAYL	5.0	10.0	-	-	4335_17:1960105-1960105 G>A_DVIIVVQNALFRTHKNVLAASSAYL
X:120182515-120182515 A>C	0.0	4335	COLON	-	-	-	-	GLUD2	ENST00000328078,p.K326T|NM_012084,p.K326T|uc004eto.3,p.K326T	protein_coding	uc004eto.3	nonsynonymous SNV	exon1	c.A977C	p.K326T	LHSMRYLHRFGAKCIAVGESDGSIW	LHSMRYLHRFGATCIAVGESDGSIW	4.0	3.0	unscreened	-	4335_X:120182515-120182515 A>C_LHSMRYLHRFGATCIAVGESDGSIW
5:24487962-24487962 G>T	0.0	4335	COLON	-	-	-	2	CDH10	NM_006727,p.T726N|ENST00000264463,p.T726N|uc003jgr.2,p.T726N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jgr.2	nonsynonymous SNV	exon12	c.C2177A	p.T726N	INERLKEHDLDPTAPPYDSLATYAY	INERLKEHDLDPNAPPYDSLATYAY	4.0	10.0	unscreened	-	4335_5:24487962-24487962 G>T_INERLKEHDLDPNAPPYDSLATYAY
11:40137784-40137784 C>A	0.0	4335	COLON	-	-	-	-	LRRC4C	ENST00000527150,p.R20M|NM_020929,p.R20M|uc031pzt.1,p.R20M|ENST00000530763,p.R20M|NM_001258419,p.R20M|uc021qgf.1,p.R20M|uc001mxb.2,p.R16M|uc031pzu.1,p.R20M|ENST00000278198,p.R20M|uc031pzs.1,p.R16M|ENST00000528697,p.R20M|ENST00000533474,p.R20M	protein_coding, processed_transcript	uc031pzu.1	nonsynonymous SNV	exon5	c.G59T	p.R20M	HPQQIMIGPRFNRALFDPLLVVLLA	HPQQIMIGPRFNMALFDPLLVVLLA	3.0	3.0	unscreened	Dinucleotide variant, merged with 11:40137785-40137785 T>G, residue 13 R>L PR	4335_11:40137784-40137784 C>A_HPQQIMIGPRFNMALFDPLLVVLLA
7:1785704-1785704 C>T	0.0	4335	COLON	-	-	-	-	ELFN1	NM_001128636,p.P491L|ENST00000561626,p.P491L|uc010ksg.2,p.P491L|ENST00000541472,p.P491L|ENST00000424383,p.P491L|uc031swk.1,p.P491L	protein_coding	uc031swk.1	nonsynonymous SNV	exon1	c.C1472T	p.P491L	GLAPLSQGPLLGPEAVTRIPYLPAA	GLAPLSQGPLLGLEAVTRIPYLPAA	4.0	7.0	unscreened	-	4335_7:1785704-1785704 C>T_GLAPLSQGPLLGLEAVTRIPYLPAA
8:2057287-2057287 T>G	0.0	4335	COLON	-	-	-	-	MYOM2	NM_003970,p.F1049V|uc011kwi.2,p.F474V|uc003wpx.4,p.F1049V|ENST00000523438,p.F474V|ENST00000262113,p.F1049V	retained_intron, protein_coding, processed_transcript	uc011kwi.2	nonsynonymous SNV	exon12	c.T1420G	p.F474V	QAEHLSPDASYRFIINDREVSDSEI	QAEHLSPDASYRVIINDREVSDSEI	5.0	3.0	-	-	4335_8:2057287-2057287 T>G_QAEHLSPDASYRVIINDREVSDSEI
X:140993252-140993252 G>T	0.0	4335	COLON	-	-	-	-	MAGEC1	NM_005462,p.S21I|uc004fbt.3,p.S21I|ENST00000285879,p.S21I|ENST00000370511,p.S21I	protein_coding	uc004fbt.3	nonsynonymous SNV	exon4	c.G62T	p.S21I	AGMPSLLQSSSESPQSCPEGEDSQS	AGMPSLLQSSSEIPQSCPEGEDSQS	1.0	10.0	unscreened	-	4335_X:140993252-140993252 G>T_AGMPSLLQSSSEIPQSCPEGEDSQS
3:164907460-164907460 C>T	0.0	4335	COLON	-	-	-	-	SLITRK3	ENST00000475390,p.G387S|NM_014926,p.G387S|uc021xgy.1,p.G387S|ENST00000241274,p.G387S|uc003fej.4,p.G387S|uc003fek.3,p.G387S	protein_coding	uc021xgy.1	nonsynonymous SNV	exon1	c.G1159A	p.G387S	TGCTCNLHINDLGLTVNCKERGFNN	TGCTCNLHINDLSLTVNCKERGFNN	2.0	9.0	unscreened	-	4335_3:164907460-164907460 C>T_TGCTCNLHINDLSLTVNCKERGFNN
X:103432841-103432841 A>G	1.0	4335	COLON	-	-	-	-	FAM199X	uc004elx.3,p.S101G	protein_coding, processed_transcript	uc004elx.3	nonsynonymous SNV	exon3	c.A301G	p.S101G	TSGVSGASASASSSSASMKRSKQRK	TSGVSGASASASGSSASMKRSKQRK	6.0	1.0	-	-	4335_X:103432841-103432841 A>G_TSGVSGASASASGSSASMKRSKQRK
10:97453491-97453491 T>G	0.0	4335	COLON	-	-	-	-	TCTN3	ENST00000371217,p.T74P|uc001klb.4,p.T56P|uc010qoi.2,p.T56P|NM_001143973,p.T56P|ENST00000371209,p.T56P|uc001kld.3,p.T74P|ENST00000430368,p.T56P|NM_015631,p.T56P|ENST00000265993,p.T56P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qoi.2	nonsynonymous SNV	exon1	c.A166C	p.T56P	GGTLQSPSEATATRPAVPGLPTVVP	GGTLQSPSEATAPRPAVPGLPTVVP	6.0	1.0	unscreened	-	4335_10:97453491-97453491 T>G_GGTLQSPSEATAPRPAVPGLPTVVP
7:92733555-92733555 A>C	0.0	4335	COLON	-	-	ID=COSM1635486;OCCURENCE=1(liver)	-	SAMD9	NM_001193307,p.L619R|uc003umg.3,p.L619R|ENST00000379958,p.L619R|ENST00000446617,p.L619R|uc003umf.3,p.L619R|uc022ahg.1,p.L619R|NM_017654,p.L619R	protein_coding	uc022ahg.1	nonsynonymous SNV	exon1	c.T1856G	p.L619R	SALSLEEINGTILKLKSVTQSSKRL	SALSLEEINGTIRKLKSVTQSSKRL	8.0	5.0	-	-	4335_7:92733555-92733555 A>C_SALSLEEINGTIRKLKSVTQSSKRL
14:59010643-59010643 T>G	0.0	4335	COLON	-	-	-	-	KIAA0586	NM_001244189,p.L1566R|ENST00000354386,p.L1566R|uc010trr.2,p.L1566R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010trr.2	nonsynonymous SNV	exon33	c.T4697G	p.L1566R	GVHVKKVSCIGKLGLWRFVIQIISS	GVHVKKVSCIGKRGLWRFVIQIISS	6.0	4.0	unscreened	-	4335_14:59010643-59010643 T>G_GVHVKKVSCIGKRGLWRFVIQIISS
X:30254049-30254049 G>T	0.0	4335	COLON	-	-	-	-	MAGEB3	uc022bug.1,p.R3L|NM_002365,p.R3L|ENST00000378986,p.R3L|ENST00000361644,p.R3L|uc004dca.2,p.R3L	protein_coding	uc022bug.1	nonsynonymous SNV	exon1	c.G8T	p.R3L	MPRGQKSTLHAREKR	MPLGQKSTLHAREKR	1.0	10.0	unscreened	-	4335_X:30254049-30254049 G>T_MPLGQKSTLHAREKR
2:189849593-189849593 G>A	0.0	4335	COLON	-	-	ID=COSM1691692;OCCURENCE=1(skin)	2	COL3A1	uc002uqj.1,p.D63N|ENST00000304636,p.D63N|NM_000090,p.D63N|ENST00000317840,p.D63N	retained_intron, protein_coding	uc002uqj.1	nonsynonymous SNV	exon2	c.G187A	p.D63N	QICVCDSGSVLCDDIICDDQELDCP	QICVCDSGSVLCNDIICDDQELDCP	10.0	8.0	-	-	4335_2:189849593-189849593 G>A_QICVCDSGSVLCNDIICDDQELDCP
2:220348865-220348865 A>G	0.0	4335	COLON	-	-	-	-	SPEG	uc010fwg.3,p.K2227R|ENST00000312358,p.K2227R|NM_005876,p.K2227R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fwg.3	nonsynonymous SNV	exon30	c.A6680G	p.K2227R	APEPRPEPVRASKPAPPPQALQTLA	APEPRPEPVRASRPAPPPQALQTLA	6.0	6.0	-	-	4335_2:220348865-220348865 A>G_APEPRPEPVRASRPAPPPQALQTLA
17:48265483-48265483 C>A	0.0	4335	COLON	-	-	-	1	COL1A1	ENST00000225964,p.G1079C	retained_intron, protein_coding	ENST00000225964	nonsynonymous SNV	exon44	c.G3235T	p.G1079C	GETGPAGPTGPVGPVGARGPAGPQG	GETGPAGPTGPVCPVGARGPAGPQG	10.0	1.0	unscreened	-	4335_17:48265483-48265483 C>A_GETGPAGPTGPVCPVGARGPAGPQG
6:100395737-100395737 T>A	0.0	4335	COLON	-	-	-	-	MCHR2	NM_032503,p.E98V|uc003pqh.1,p.E98V|ENST00000445970,p.E98V|uc003pqi.1,p.E98V|ENST00000281806,p.E98V|NM_001040179,p.E98V|ENST00000369212,p.E98V	protein_coding	uc003pqi.1	nonsynonymous SNV	exon3	c.A293T	p.E98V	MPFLIHQWARGGEWVFGGPLCTIIT	MPFLIHQWARGGVWVFGGPLCTIIT	1.0	2.0	unscreened	-	4335_6:100395737-100395737 T>A_MPFLIHQWARGGVWVFGGPLCTIIT
9:129376822-129376822 G>A	0.0	4335	COLON	-	-	-	-	LMX1B	NM_001174146,p.E32K|ENST00000526117,p.E32K|NM_001174147,p.E32K|uc011maa.2,p.E32K|ENST00000355497,p.E32K|uc004bqi.3,p.E32K|NM_002316,p.E32K|uc004bqj.3,p.E32K|ENST00000373474,p.E32K	protein_coding	uc011maa.2	nonsynonymous SNV	exon1	c.G94A	p.E32K	DCAKMLDGIKMEEHALRPGPATLGV	DCAKMLDGIKMEKHALRPGPATLGV	1.0	10.0	unscreened	-	4335_9:129376822-129376822 G>A_DCAKMLDGIKMEKHALRPGPATLGV
X:100608297-100608297 T>C	0.0	4335	COLON	-	-	-	1	BTK	uc010nnm.2,p.Y168C|ENST00000308731,p.Y598C|uc004ehg.2,p.Y598C|NM_000061,p.Y598C|ENST00000372880,p.Y422C|NM_001287344,p.Y632C|uc004ehf.2,p.Y98C|uc010nnn.2,p.Y422C|NM_001287345,p.Y422C|uc010nnl.2,p.Y74C|uc010nno.2,p.Y632C	protein_coding, processed_transcript	uc010nno.2	nonsynonymous SNV	exon18	c.A1895G	p.Y632C	LMWEIYSLGKMPYERFTNSETAEHI	LMWEIYSLGKMPCERFTNSETAEHI	9.0	10.0	-	-	4335_X:100608297-100608297 T>C_LMWEIYSLGKMPCERFTNSETAEHI
11:58207186-58207186 A>G	0.0	4335	COLON	-	-	-	-	OR5B12	uc010rkh.2,p.Y147H|ENST00000302572,p.Y147H|NM_001004733,p.Y147H	protein_coding	uc010rkh.2	nonsynonymous SNV	exon1	c.T439C	p.Y147H	TTNVCACLAIGSYICGFLNASIHTG	TTNVCACLAIGSHICGFLNASIHTG	1.0	10.0	unscreened	-	4335_11:58207186-58207186 A>G_TTNVCACLAIGSHICGFLNASIHTG
X:18662712-18662712 G>T	0.0	4335	COLON	-	-	-	-	RS1	NM_000330,p.S120R|uc004cyo.3,p.S120R|ENST00000379984,p.S120R	protein_coding, processed_transcript	uc004cyo.3	nonsynonymous SNV	exon5	c.C360A	p.S120R	FGCAWLSKFQDSSQWLQIDLKEIKV	FGCAWLSKFQDSRQWLQIDLKEIKV	2.0	9.0	unscreened	-	4335_X:18662712-18662712 G>T_FGCAWLSKFQDSRQWLQIDLKEIKV
19:31769447-31769447 C>T	0.0	4335	COLON	-	-	ID=COSM286028,COSM286029;OCCURENCE=1(large_intestine)	-	TSHZ3	uc002nsy.4,p.A418T|NM_020856,p.A418T|ENST00000240587,p.A418T	protein_coding, processed_transcript	uc002nsy.4	nonsynonymous SNV	exon2	c.G1252A	p.A418T	MVTGHFIKVTNSAMKKGKPIVETPV	MVTGHFIKVTNSTMKKGKPIVETPV	5.0	8.0	-	-	4335_19:31769447-31769447 C>T_MVTGHFIKVTNSTMKKGKPIVETPV
16:71423691-71423691 G>A	0.0	4335	COLON	-	-	-	-	CALB2	ENST00000302628,p.V247I|NM_001740,p.V247I|uc002faa.4,p.V247I	retained_intron, protein_coding	uc002faa.4	nonsynonymous SNV	exon11	c.G739A	p.V247I	MNIQQLTNYRKSVMSLAEAGKLYRK	MNIQQLTNYRKSIMSLAEAGKLYRK	3.0	3.0	unscreened	-	4335_16:71423691-71423691 G>A_MNIQQLTNYRKSIMSLAEAGKLYRK
21:18931411-18931411 T>G	1.0	4335	COLON	-	-	-	-	CXADR	uc002ykh.2,p.L178W|NM_001207066,p.L178W|ENST00000284878,p.L178W|uc002yki.3,p.L178W|uc002ykj.2,p.L178W|NM_001338,p.L178W|NM_001207063,p.L178W|ENST00000400166,p.L178W|uc021whp.1,p.L178W|ENST00000306618,p.L178W|ENST00000400169,p.L178W	protein_coding	uc021whp.1	nonsynonymous SNV	exon4	c.T533G	p.L178W	EGSLPLQYEWQKLSDSQKMPTSWLA	EGSLPLQYEWQKWSDSQKMPTSWLA	8.0	2.0	-	-	4335_21:18931411-18931411 T>G_EGSLPLQYEWQKWSDSQKMPTSWLA
X:18768030-18768030 C>T	0.0	4335	COLON	-	-	-	-	PPEF1	ENST00000349874,p.T119M|NM_152226,p.T119M|uc011mja.2,p.T54M|ENST00000472826,p.T29M|uc004cyr.3,p.T119M|NM_006240,p.T119M|uc004cyq.3,p.T119M|uc011mjb.2,p.T63M|ENST00000544635,p.T54M|ENST00000543630,p.T119M|uc004cyp.3,p.T119M|NM_152224,p.T119M|ENST00000361511,p.T119M|uc004cys.3,p.T119M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011mjb.2	nonsynonymous SNV	exon3	c.C188T	p.T63M	YNGPRLQFPLTCTDIDLLLEAFKEQ	YNGPRLQFPLTCMDIDLLLEAFKEQ	3.0	1.0	unscreened	-	4335_X:18768030-18768030 C>T_YNGPRLQFPLTCMDIDLLLEAFKEQ
8:1905287-1905287 C>T	0.0	4335	COLON	-	-	-	-	ARHGEF10	uc003wpr.3,p.A1298V|ENST00000398564,p.A1323V|ENST00000262112,p.A1294V|ENST00000518288,p.A1322V|ENST00000349830,p.A1298V|uc010lre.3,p.A949V|NM_014629,p.A1298V|ENST00000520359,p.A1260V|uc003wps.3,p.A1260V|ENST00000522435,p.A942V	retained_intron, protein_coding, processed_transcript	uc010lre.3	nonsynonymous SNV	exon19	c.C2846T	p.A949V	KDPVSLRSKARRAKKAKASSALVVC	KDPVSLRSKARRVKKAKASSALVVC	9.0	3.0	-	-	4335_8:1905287-1905287 C>T_KDPVSLRSKARRVKKAKASSALVVC
20:19981554-19981554 G>A	1.0	4335	COLON	-	-	-	-	RIN2	ENST00000440354,p.G455R|uc010gcu.2,p.G455R|uc002wro.2,p.G937R|NM_018993,p.G888R|NM_001242581,p.G937R|ENST00000255006,p.G937R|uc010gcv.2,p.G682R	protein_coding, processed_transcript	uc010gcv.2	nonsynonymous SNV	exon9	c.G2044A	p.G682R	IKNDPYGIIFQNGEEDLTTS	IKNDPYGIIFQNREEDLTTS	9.0	10.0	-	-	4335_20:19981554-19981554 G>A_IKNDPYGIIFQNREEDLTTS
2:86274322-86274322 G>A	0.0	4335	COLON	-	-	-	-	POLR1A	uc002sqs.3,p.S900L|NM_015425,p.S900L|ENST00000409681,p.S900L|ENST00000263857,p.S900L|uc010ytb.2,p.S266L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ytb.2	nonsynonymous SNV	exon6	c.C797T	p.S266L	QFPENSLQMMVQSGAKGSTVNTMQI	QFPENSLQMMVQLGAKGSTVNTMQI	7.0	7.0	-	-	4335_2:86274322-86274322 G>A_QFPENSLQMMVQLGAKGSTVNTMQI
5:156895807-156895807 A>C	0.0	4335	COLON	-	-	-	-	NIPAL4	uc003lwx.4,p.S200R|ENST00000435489,p.S181R|NM_001099287,p.S200R|ENST00000311946,p.S200R|uc011ddq.2,p.S181R|NM_001172292,p.S181R	protein_coding, processed_transcript, nonsense_mediated_decay	uc011ddq.2	nonsynonymous SNV	exon3	c.A541C	p.S181R	APATVVTPLGALSVLISAILSSYFL	APATVVTPLGALRVLISAILSSYFL	4.0	6.0	unscreened	-	4335_5:156895807-156895807 A>C_APATVVTPLGALRVLISAILSSYFL
1:161163010-161163010 T>G	0.0	4335	COLON	-	-	-	-	ADAMTS4	ENST00000367996,p.E635A|NM_005099,p.E635A|uc001fyt.4,p.E635A	protein_coding, processed_transcript	uc001fyt.4	nonsynonymous SNV	exon7	c.A1904C	p.E635A	CQAQALGYYYVLEPRVVDGTPCSPD	CQAQALGYYYVLAPRVVDGTPCSPD	4.0	9.0	unscreened	-	4335_1:161163010-161163010 T>G_CQAQALGYYYVLAPRVVDGTPCSPD
15:63954216-63954216 A>C	0.0	4335	COLON	-	-	-	-	HERC1	ENST00000443617,p.V2969G|NM_003922,p.V2969G|uc002amp.3,p.V2969G	retained_intron, protein_coding, nonsense_mediated_decay	uc002amp.3	nonsynonymous SNV	exon45	c.T8906G	p.V2969G	WIPEVLDWPTWHVCESEDREEVVVC	WIPEVLDWPTWHGCESEDREEVVVC	8.0	1.0	-	-	4335_15:63954216-63954216 A>C_WIPEVLDWPTWHGCESEDREEVVVC
7:6737032-6737032 T>G	0.0	4335	COLON	-	-	-	-	ZNF12	ENST00000405858,p.K59T|uc003sqs.1,p.K59T|uc003sqt.1,p.K59T|NM_006956,p.K59T|ENST00000404360,p.K23T|NM_016265,p.K59T|ENST00000342651,p.K59T	protein_coding, processed_transcript	uc003sqt.1	nonsynonymous SNV	exon4	c.A176C	p.K59T	VGYHIIKPDVISKLEQGEEPWIVEG	VGYHIIKPDVISTLEQGEEPWIVEG	7.0	2.0	-	-	4335_7:6737032-6737032 T>G_VGYHIIKPDVISTLEQGEEPWIVEG
19:41025609-41025609 G>A	0.0	4335	COLON	-	-	-	-	SPTBN4	ENST00000595535,p.E1069K|ENST00000338932,p.E1069K|ENST00000344104,p.E1069K|uc002onz.3,p.E1069K|NM_020971,p.E1069K|ENST00000597389,p.E461K|uc002onx.3,p.E1069K|ENST00000598249,p.E1069K|ENST00000352632,p.E1069K|uc002ony.3,p.E1069K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002onz.3	nonsynonymous SNV	exon16	c.G3205A	p.E1069K	ARLHQGAEELGAEWGALASAAQACG	ARLHQGAEELGAKWGALASAAQACG	3.0	9.0	unscreened	-	4335_19:41025609-41025609 G>A_ARLHQGAEELGAKWGALASAAQACG
5:1879747-1879747 C>T	0.0	4335	COLON	-	-	ID=COSM1695357;OCCURENCE=1(skin)	-	IRX4	NM_001278633,p.E229K|uc031sip.1,p.E203K|uc011cmf.2,p.E64K|NM_001278634,p.E203K|ENST00000505790,p.E203K|ENST00000231357,p.E203K|uc031sio.1,p.E229K|uc031sir.1,p.E203K|uc031siq.1,p.E229K|NM_001278635,p.E229K|uc003jcz.2,p.E203K|ENST00000513692,p.E203K|NM_016358,p.E203K|NM_001278632,p.E203K	protein_coding, processed_transcript, nonsense_mediated_decay	uc031sir.1	nonsynonymous SNV	exon5	c.G607A	p.E203K	TWFANARRRLKKENKMTWPPRNKCA	TWFANARRRLKKKNKMTWPPRNKCA	1.0	10.0	unscreened	-	4335_5:1879747-1879747 C>T_TWFANARRRLKKKNKMTWPPRNKCA
2:202571664-202571664 C>G	0.0	4335	COLON	-	-	-	-	ALS2	ENST00000264276,p.L1495F|NM_020919,p.L1495F|uc002uyo.3,p.L1495F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002uyo.3	nonsynonymous SNV	exon29	c.G4485C	p.L1495F	PRLYPPLFMLYALDNDREEDIYWEC	PRLYPPLFMLYAFDNDREEDIYWEC	8.0	3.0	-	-	4335_2:202571664-202571664 C>G_PRLYPPLFMLYAFDNDREEDIYWEC
17:48265483-48265483 C>A	0.0	4335	COLON	-	-	-	1	COL1A1	NM_000088,p.G1079C|uc002iqm.3,p.G1079C	retained_intron, protein_coding	uc002iqm.3	nonsynonymous SNV	exon44	c.G3235T	p.G1079C	GETGPAGPAGPVGPVGARGPAGPQG	GETGPAGPAGPVCPVGARGPAGPQG	10.0	1.0	-	-	4335_17:48265483-48265483 C>A_GETGPAGPAGPVCPVGARGPAGPQG
19:7083576-7083576 G>C	1.0	4335	COLON	-	-	-	-	ZNF557	NM_001044388,p.G365R|uc002mga.3,p.G372R|NM_001044387,p.G372R|NM_024341,p.G372R|ENST00000414706,p.G372R|uc002mgb.3,p.G365R|uc002mgc.3,p.G372R|ENST00000252840,p.G372R|ENST00000439035,p.G365R	protein_coding	uc002mgc.3	nonsynonymous SNV	exon8	c.G1114C	p.G372R	SFSLTIHRRIHNGEKSYECSDCGKS	SFSLTIHRRIHNREKSYECSDCGKS	7.0	5.0	unscreened	-	4335_19:7083576-7083576 G>C_SFSLTIHRRIHNREKSYECSDCGKS
13:112722792-112722792 G>A	0.0	4335	COLON	-	-	-	-	SOX1	uc001vsb.1,p.G274S|NM_005986,p.G274S|ENST00000330949,p.G274S	protein_coding	uc001vsb.1	nonsynonymous SNV	exon1	c.G820A	p.G274S	SQGYMSASPSGYGGLPYGAAAAAAA	SQGYMSASPSGYSGLPYGAAAAAAA	1.0	10.0	unscreened	-	4335_13:112722792-112722792 G>A_SQGYMSASPSGYSGLPYGAAAAAAA
X:103432841-103432841 A>G	1.0	4335	COLON	-	-	-	-	FAM199X	uc004elw.3,p.S284G|ENST00000493442,p.S284G|NM_207318,p.S284G	protein_coding, processed_transcript	uc004elw.3	nonsynonymous SNV	exon5	c.A850G	p.S284G	TSGVSGASASASSSSASMVSSASSS	TSGVSGASASASGSSASMVSSASSS	6.0	1.0	-	-	4335_X:103432841-103432841 A>G_TSGVSGASASASGSSASMVSSASSS
16:58325032-58325032 C>T	0.0	4335	COLON	-	-	ID=COSM290521;OCCURENCE=3(large_intestine)	-	PRSS54	ENST00000567164,p.V32I|ENST00000219301,p.V32I|uc002enf.3,p.V32I|ENST00000569727,p.V32I|uc002eng.3,p.V32I|NM_001080492,p.V32I	protein_coding, processed_transcript	uc002eng.3	nonsynonymous SNV	exon4	c.G94A	p.V32I	LLGLLYSSTSCGVQKASVFYGPDPK	LLGLLYSSTSCGIQKASVFYGPDPK	1.0	9.0	unscreened	-	4335_16:58325032-58325032 C>T_LLGLLYSSTSCGIQKASVFYGPDPK
9:420960-420960 T>G	0.0	4335	COLON	-	-	-	-	DOCK8	ENST00000382329,p.S812R|NM_001193536,p.S1277R|ENST00000432829,p.S1277R|ENST00000469391,p.S1245R|uc010mgu.3,p.S647R|uc022bcu.1,p.S1277R|uc003zgf.2,p.S1345R|ENST00000453981,p.S1345R|uc010mgv.3,p.S1245R|uc003zgk.2,p.S803R|NM_203447,p.S1345R|NM_001190458,p.S1245R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc022bcu.1	nonsynonymous SNV	exon31	c.T3831G	p.S1277R	ICVLCFEYKGKQSSDKVSTQVLQKS	ICVLCFEYKGKQRSDKVSTQVLQKS	10.0	1.0	-	-	4335_9:420960-420960 T>G_ICVLCFEYKGKQRSDKVSTQVLQKS
19:15222529-15222529 G>C	0.0	4335	COLON	-	-	-	-	SYDE1	uc002nai.1,p.D435H|uc002nah.1,p.D502H|NM_033025,p.D502H|ENST00000600252,p.D159H|ENST00000342784,p.D502H|uc002naj.1,p.D159H|NM_001300910,p.D435H|ENST00000600440,p.D435H	protein_coding	uc002naj.1	nonsynonymous SNV	exon3	c.G475C	p.D159H	PLYKVVLEAMARDPPNRVPPTTEGT	PLYKVVLEAMARHPPNRVPPTTEGT	5.0	4.0	-	-	4335_19:15222529-15222529 G>C_PLYKVVLEAMARHPPNRVPPTTEGT
7:141618709-141618709 T>G	0.0	4335	COLON	-	-	-	-	OR9A4	uc003vwu.1,p.Y12D|ENST00000548136,p.Y12D|NM_001001656,p.Y12D	protein_coding	uc003vwu.1	nonsynonymous SNV	exon1	c.T34G	p.Y12D	MLMNYSSATEFYLLGFPGSEELHH	MLMNYSSATEFDLLGFPGSEELHH	1.0	7.0	unscreened	-	4335_7:141618709-141618709 T>G_MLMNYSSATEFDLLGFPGSEELHH
19:37905147-37905147 T>G	0.0	4335	COLON	-	-	-	-	ZNF569	NM_152484,p.E138A|uc002ogj.3,p.E162A|ENST00000316950,p.E138A|ENST00000392149,p.E138A|uc002ogi.3,p.E138A|ENST00000448051,p.E162A	protein_coding, processed_transcript	uc002ogj.3	nonsynonymous SNV	exon9	c.A485C	p.E162A	NSDFFPSRHNLYEYDLFGKCLEHNF	NSDFFPSRHNLYAYDLFGKCLEHNF	4.0	4.0	unscreened	-	4335_19:37905147-37905147 T>G_NSDFFPSRHNLYAYDLFGKCLEHNF
3:98072714-98072714 A>T	0.0	4335	COLON	-	-	-	-	OR5K4	ENST00000354924,p.H6L|uc011bgv.2,p.H6L|NM_001005517,p.H6L	protein_coding	uc011bgv.2	nonsynonymous SNV	exon1	c.A17T	p.H6L	MARENHSLAAEFILIGFT	MARENLSLAAEFILIGFT	1.0	9.0	unscreened	-	4335_3:98072714-98072714 A>T_MARENLSLAAEFILIGFT
19:18233540-18233540 C>G	1.0	4335	COLON	-	-	-	-	MAST3	NM_015016,p.N97K|ENST00000262811,p.N97K|uc002nhz.4,p.N97K	retained_intron, protein_coding	uc002nhz.4	nonsynonymous SNV	exon5	c.C291G	p.N97K	SLASLPSSGYGTNTPSSTLSSSSSS	SLASLPSSGYGTKTPSSTLSSSSSS	7.0	7.0	-	-	4335_19:18233540-18233540 C>G_SLASLPSSGYGTKTPSSTLSSSSSS
20:33862351-33862351 ->G	0.0	4335	COLON	-	-	-	-	MMP24	NM_006690,p.K626fs|ENST00000246186,p.K626fs|uc002xbu.2,p.K626fs	protein_coding	uc002xbu.2	frameshift insertion	exon9	c.1878dupG	p.K626fs	CILVLVYTIFQFKNKTGPQPVTYYK	CILVLVYTIFQFKEQDRPSACHLL	4.0	10.0	unscreened	-	4335_20:33862351-33862351 ->G_CILVLVYTIFQFKEQDRPSACHLL
8:110510985-110510985 C>T	0.0	4335	COLON	0.0023	-	-	-	PKHD1L1	ENST00000526472,p.L533F|NM_177531,p.L3605F|uc003yne.3,p.L3605F|ENST00000378402,p.L3605F	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon67	c.C10813T	p.L3605F	HAGIMSYNAISGLLDISGSTFVGFK	HAGIMSYNAISGFLDISGSTFVGFK	4.0	4.0	unscreened	-	4335_8:110510985-110510985 C>T_HAGIMSYNAISGFLDISGSTFVGFK
1:34015912-34015912 G>C	0.0	4335	COLON	-	-	-	-	CSMD2	uc001bxn.1,p.Q2784E|NM_001281956,p.Q2928E|NM_052896,p.Q2784E|ENST00000373381,p.Q2928E|ENST00000241312,p.Q2784E|uc001bxm.1,p.Q2928E	protein_coding, processed_transcript, nonsense_mediated_decay	uc001bxn.1	nonsynonymous SNV	exon55	c.C8350G	p.Q2784E	VSCGHPGSPPHSQMSGDSYTVGAVV	VSCGHPGSPPHSEMSGDSYTVGAVV	4.0	4.0	unscreened	-	4335_1:34015912-34015912 G>C_VSCGHPGSPPHSEMSGDSYTVGAVV
X:69902580-69902580 A>G	0.0	4335	COLON	-	-	-	-	TEX11	ENST00000344304,p.L382P|uc004dyl.3,p.L382P|NM_031276,p.L367P|ENST00000395889,p.L382P|ENST00000374320,p.L57P|NM_001003811,p.L382P|uc004dym.3,p.L367P|ENST00000374333,p.L367P|uc004dyk.3,p.L57P	protein_coding	uc004dym.3	nonsynonymous SNV	exon14	c.T1100C	p.L367P	NIGKVLILHTDMLLQRKEELLAKEK	NIGKVLILHTDMPLQRKEELLAKEK	1.0	7.0	unscreened	-	4335_X:69902580-69902580 A>G_NIGKVLILHTDMPLQRKEELLAKEK
1:228346358-228346358 G>A	1.0	4335	COLON	-	-	-	-	GJC2	ENST00000366714,p.G300D|uc001hsk.3,p.G300D|NM_020435,p.G300D|uc021pkg.1,p.G300D	protein_coding	uc021pkg.1	nonsynonymous SNV	exon1	c.G899A	p.G300D	HLGLGSAQDAVRGRRGPPASAPAPA	HLGLGSAQDAVRDRRGPPASAPAPA	6.0	10.0	-	-	4335_1:228346358-228346358 G>A_HLGLGSAQDAVRDRRGPPASAPAPA
19:19626028-19626028 G>A	0.0	4335	COLON	-	-	-	-	TSSK6	uc002nmr.3,p.P70L|ENST00000587522,p.P70L|ENST00000360913,p.P70L|ENST00000585580,p.P70L|NM_032037,p.P70L	protein_coding, nonsense_mediated_decay	uc002nmr.3	nonsynonymous SNV	exon1	c.C209T	p.P70L	PRELSILRGVRHPHIVHVFEFIEVC	PRELSILRGVRHLHIVHVFEFIEVC	3.0	5.0	unscreened	-	4335_19:19626028-19626028 G>A_PRELSILRGVRHLHIVHVFEFIEVC
2:207171180-207171180 T>A	0.0	4335	COLON	-	-	-	-	ZDBF2	NM_020923,p.V643D|ENST00000374423,p.V643D|NM_001285549,p.V641D|uc002vbp.2,p.V643D|uc031rqy.1,p.V641D	protein_coding	uc031rqy.1	nonsynonymous SNV	exon7	c.T1922A	p.V641D	SLGTVADESQRAVEKINLLKEKNAD	SLGTVADESQRADEKINLLKEKNAD	3.0	8.0	unscreened	-	4335_2:207171180-207171180 T>A_SLGTVADESQRADEKINLLKEKNAD
13:42534991-42534991 G>C	1.0	4335	COLON	-	-	-	-	VWA8	ENST00000281496,p.T54R|uc001uyj.3,p.T54R|NM_001009814,p.T54R|NM_015058,p.T54R|ENST00000379310,p.T54R|uc001uyk.3,p.T54R	protein_coding, processed_transcript	uc001uyk.3	nonsynonymous SNV	exon1	c.C161G	p.T54R	EVRLLHAGSGADTGDTVNIGDVSYK	EVRLLHAGSGADRGDTVNIGDVSYK	7.0	7.0	-	-	4335_13:42534991-42534991 G>C_EVRLLHAGSGADRGDTVNIGDVSYK
15:30381209-30381209 G>A	0.0	4335	COLON	-	-	-	-	GOLGA8J	ENST00000567927,p.R251Q|NM_001282472,p.R251Q|ENST00000341650,p.R64Q	protein_coding, processed_transcript	NM_001282472	nonsynonymous SNV	exon10	c.G752A	p.R251Q	DEYSEHLKGERARWQQRMRKMSQEI	DEYSEHLKGERAQWQQRMRKMSQEI	8.0	6.0	-	-	4335_15:30381209-30381209 G>A_DEYSEHLKGERAQWQQRMRKMSQEI
1:53099220-53099220 T>C	0.0	4335	COLON	-	-	-	-	FAM159A	uc001cuf.3,p.F19L|ENST00000517870,p.F19L|NM_001042693,p.F19L	protein_coding, processed_transcript	uc001cuf.3	nonsynonymous SNV	exon1	c.T55C	p.F19L	SYVSAEQEVVRGFSCPRPGGEAAAV	SYVSAEQEVVRGLSCPRPGGEAAAV	5.0	10.0	-	-	4335_1:53099220-53099220 T>C_SYVSAEQEVVRGLSCPRPGGEAAAV
3:16217011-16217011 G>A	0.0	4335	COLON	0.0009	-	ID=COSM3202515;OCCURENCE=2(pancreas)	-	GALNT15	ENST00000437509,p.R118H|NM_054110,p.R118H|uc003car.4,p.R118H|ENST00000339732,p.R118H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003car.4	nonsynonymous SNV	exon1	c.G353A	p.R118H	RNQSQGRRGGSYRLIKQPRRQDKEA	RNQSQGRRGGSYHLIKQPRRQDKEA	4.0	10.0	unscreened	-	4335_3:16217011-16217011 G>A_RNQSQGRRGGSYHLIKQPRRQDKEA
19:13210462-13210462 C>T	0.0	4335	COLON	-	-	-	1	LYL1	ENST00000264824,p.E172K|uc002mwi.3,p.E172K|NM_005583,p.E172K	retained_intron, protein_coding	uc002mwi.3	nonsynonymous SNV	exon4	c.G514A	p.E172K	RWRQQNVNGAFAELRKLLPTHPPDR	RWRQQNVNGAFAKLRKLLPTHPPDR	4.0	3.0	unscreened	-	4335_19:13210462-13210462 C>T_RWRQQNVNGAFAKLRKLLPTHPPDR
7:4874315-4874315 A>G	0.0	4335	COLON	-	-	-	-	RADIL	uc003snj.1,p.S447P|NM_018059,p.S447P|uc011jwc.1,p.S207P|ENST00000399583,p.S447P|ENST00000536091,p.S447P|ENST00000538469,p.S207P	retained_intron, protein_coding, nonsense_mediated_decay	uc011jwc.1	nonsynonymous SNV	exon3	c.T619C	p.S207P	TPAFLLCLCIQHSATHFQPGTFGQL	TPAFLLCLCIQHPATHFQPGTFGQL	4.0	5.0	unscreened	-	4335_7:4874315-4874315 A>G_TPAFLLCLCIQHPATHFQPGTFGQL
1:26664847-26664847 T>C	0.0	4335	COLON	-	-	-	-	AIM1L	ENST00000527815,p.R282G|uc001bmd.4,p.R1156G|NM_001039775,p.R1156G|ENST00000308182,p.R111G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001bmd.4	nonsynonymous SNV	exon7	c.A3466G	p.R1156G	TSDPSVGSLKPMRLGCPSVEKPGEP	TSDPSVGSLKPMGLGCPSVEKPGEP	5.0	7.0	-	-	4335_1:26664847-26664847 T>C_TSDPSVGSLKPMGLGCPSVEKPGEP
9:131890336-131890336 G>A	0.0	4335	COLON	-	-	-	-	PPP2R4	uc011mbo.2,p.A104T|ENST00000445241,p.A104T|uc004bxm.2,p.A104T|ENST00000452489,p.A104T|NM_178001,p.A104T|ENST00000337738,p.A104T|ENST00000414331,p.A32T|ENST00000455292,p.A104T	protein_coding	uc011mbo.2	nonsynonymous SNV	exon4	c.G310A	p.A104T	DECIPLPRAGHCAPSEAIEKLVALL	DECIPLPRAGHCTPSEAIEKLVALL	9.0	1.0	-	-	4335_9:131890336-131890336 G>A_DECIPLPRAGHCTPSEAIEKLVALL
1:10363599-10363599 A>T	0.0	4335	COLON	-	-	-	-	KIF1B	uc001aqv.4,p.R786W|ENST00000377083,p.R786W|ENST00000377093,p.R786W|NM_183416,p.R786W	retained_intron, protein_coding, processed_transcript	uc001aqv.4	nonsynonymous SNV	exon21	c.A2356T	p.R786W	YGKKDPNERDSWRAVARDVWDTVGV	YGKKDPNERDSWWAVARDVWDTVGV	9.0	4.0	-	-	4335_1:10363599-10363599 A>T_YGKKDPNERDSWWAVARDVWDTVGV
13:101707739-101707739 C>T	0.0	4335	COLON	-	-	-	-	NALCN	NM_052867,p.A1709T|ENST00000251127,p.A1709T|uc001vox.1,p.A1709T	retained_intron, protein_coding, processed_transcript	uc001vox.1	nonsynonymous SNV	exon44	c.G5125A	p.A1709T	KSVVCKMNPMTDAASCGSEVKKWWT	KSVVCKMNPMTDTASCGSEVKKWWT	4.0	9.0	unscreened	-	4335_13:101707739-101707739 C>T_KSVVCKMNPMTDTASCGSEVKKWWT
2:239010733-239010733 A>C	0.0	4335	COLON	-	-	-	-	ESPNL	ENST00000409169,p.D149A|NM_194312,p.D149A|ENST00000343063,p.D149A|uc002vxq.4,p.D149A	protein_coding, processed_transcript	uc002vxq.4	nonsynonymous SNV	exon2	c.A446C	p.D149A	GARPLHHAAVSGDLTCLKLLTAAHG	GARPLHHAAVSGALTCLKLLTAAHG	3.0	7.0	unscreened	-	4335_2:239010733-239010733 A>C_GARPLHHAAVSGALTCLKLLTAAHG
13:25745102-25745102 G>A	0.0	4335	COLON	-	-	-	-	AMER2	uc001uqc.3,p.A219V|NM_152704,p.A219V|ENST00000381853,p.A219V|ENST00000357816,p.A219V|ENST00000515384,p.A219V|uc001uqb.3,p.A219V|uc001uqa.3,p.A219V|NM_199138,p.A219V	protein_coding	uc001uqc.3	nonsynonymous SNV	exon2	c.C656T	p.A219V	DKRAKAEAAEGRAPGGGLILPGSLT	DKRAKAEAAEGRVPGGGLILPGSLT	1.0	9.0	unscreened	-	4335_13:25745102-25745102 G>A_DKRAKAEAAEGRVPGGGLILPGSLT
19:56104436-56104436 G>A	0.0	4335	COLON	-	-	-	-	FIZ1	uc002qli.4,p.R291C|uc002qlj.4,p.R291C|ENST00000221665,p.R291C|NM_032836,p.R291C	protein_coding	uc002qlj.4	nonsynonymous SNV	exon2	c.C871T	p.R291C	AAEAGDAPLASDRRLLLGPAGGGVP	AAEAGDAPLASDCRLLLGPAGGGVP	5.0	5.0	-	-	4335_19:56104436-56104436 G>A_AAEAGDAPLASDCRLLLGPAGGGVP
14:52186873-52186873 C>A	0.0	4335	COLON	-	-	-	-	FRMD6	NM_001267047,p.S17R|ENST00000555197,p.S105R|ENST00000344768,p.S375R|uc001wzd.3,p.S375R|uc001wze.3,p.S298R|NM_152330,p.S367R|ENST00000553556,p.S17R|uc001wzf.3,p.S68R|NM_001042481,p.S367R|ENST00000356218,p.S367R|ENST00000395718,p.S367R|uc001wzc.3,p.S367R|ENST00000555703,p.S17R|ENST00000554167,p.S298R|uc001wzb.4,p.S367R|uc001wzg.3,p.S17R|NM_001267046,p.S375R	retained_intron, protein_coding, processed_transcript	uc001wzg.3	nonsynonymous SNV	exon2	c.C51A	p.S17R	EKRSRASGSSAGSMKHKRLSRHSTA	EKRSRASGSSAGRMKHKRLSRHSTA	6.0	9.0	-	-	4335_14:52186873-52186873 C>A_EKRSRASGSSAGRMKHKRLSRHSTA
12:57843348-57843348 T>G	0.0	4335	COLON	-	-	-	-	INHBC	ENST00000309668,p.L201R|uc001snv.1,p.L201R|NM_005538,p.L201R	protein_coding	uc001snv.1	nonsynonymous SNV	exon2	c.T602G	p.L201R	ACSQGHLTLELVLEGQVAQSSVILG	ACSQGHLTLELVREGQVAQSSVILG	2.0	8.0	unscreened	-	4335_12:57843348-57843348 T>G_ACSQGHLTLELVREGQVAQSSVILG
16:3254427-3254427 T>G	0.0	4335	COLON	-	-	-	-	OR1F1	ENST00000304646,p.F61V|NM_012360,p.F61V|uc010uwu.2,p.F61V	protein_coding	uc010uwu.2	nonsynonymous SNV	exon1	c.T181G	p.F61V	VSIDSCLHTPMYFFLSNLSFVDICF	VSIDSCLHTPMYVFLSNLSFVDICF	1.0	1.0	unscreened	-	4335_16:3254427-3254427 T>G_VSIDSCLHTPMYVFLSNLSFVDICF
19:48048407-48048407 G>A	0.0	4335	COLON	-	-	-	-	ZNF541	uc010xyt.3,p.S460F|uc010eli.4,p.S274F|ENST00000391901,p.S460F|NM_001277075,p.S460F|uc010elh.4,p.S274F|ENST00000448976,p.S460F|uc002phg.5,p.S460F|ENST00000314121,p.S460F	protein_coding, processed_transcript	uc010xyt.3	nonsynonymous SNV	exon3	c.C1379T	p.S460F	GPGPSSGSPSEESPPGPGGGLEDAL	GPGPSSGSPSEEFPPGPGGGLEDAL	1.0	10.0	unscreened	-	4335_19:48048407-48048407 G>A_GPGPSSGSPSEEFPPGPGGGLEDAL
6:128134639-128134639 C>T	0.0	4335	COLON	-	-	-	-	THEMIS	uc010kfa.3,p.V286I|NM_001010923,p.V383I|ENST00000368248,p.V383I|uc011ebt.2,p.V383I|ENST00000537166,p.V348I|NM_001164687,p.V348I|uc010kfb.3,p.V348I|ENST00000543064,p.V383I|ENST00000368250,p.V304I|uc021zfa.1,p.V383I|NM_001164685,p.V383I	protein_coding	uc021zfa.1	nonsynonymous SNV	exon4	c.G1147A	p.V383I	KAFHSPHDKLSSVSVGDQFLVHQSE	KAFHSPHDKLSSISVGDQFLVHQSE	1.0	8.0	unscreened	-	4335_6:128134639-128134639 C>T_KAFHSPHDKLSSISVGDQFLVHQSE
6:108831428-108831428 G>A	0.0	4335	COLON	-	-	-	-	LACE1	ENST00000368977,p.S359N|uc003psj.3,p.S359N|NM_145315,p.S359N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003psj.3	nonsynonymous SNV	exon11	c.G1076A	p.S359N	TFEELCERPLGASDYLELSKNFDTI	TFEELCERPLGANDYLELSKNFDTI	6.0	8.0	-	-	4335_6:108831428-108831428 G>A_TFEELCERPLGANDYLELSKNFDTI
4:9218638-9218638 G>A	0.0	4335	COLON	-	-	-	-	USP17L11,USP17L18,USP17L20	NM_001256861,p.G503D|NM_001256854,p.G503D|NM_001256859,p.G503D|ENST00000457736,p.G503D|uc031sdh.1,p.G503D	protein_coding	uc031sdh.1	nonsynonymous SNV	exon1	c.G1508A	p.G503D	STTPTHQESMNTGTLASLRGRARRS	STTPTHQESMNTDTLASLRGRARRS	1.0	7.0	unscreened	-	4335_4:9218638-9218638 G>A_STTPTHQESMNTDTLASLRGRARRS
5:139216448-139216448 G>A	0.0	4335	COLON	-	-	ID=COSM3238227;OCCURENCE=1(pancreas),1(liver)	-	PSD2	uc003leu.1,p.G486R|NM_032289,p.G486R|ENST00000274710,p.G486R	protein_coding	uc003leu.1	nonsynonymous SNV	exon10	c.G1456A	p.G486R	RKSLSELVDDKFGTGTKKVTRILDG	RKSLSELVDDKFRTGTKKVTRILDG	1.0	9.0	unscreened	-	4335_5:139216448-139216448 G>A_RKSLSELVDDKFRTGTKKVTRILDG
2:31605907-31605907 T>C	0.0	4335	COLON	-	-	-	-	XDH	ENST00000379416,p.Q333R|NM_000379,p.Q333R|uc002rnv.1,p.Q333R	protein_coding, processed_transcript	uc002rnv.1	nonsynonymous SNV	exon11	c.A998G	p.Q333R	AQKTEVFRGVLEQLRWFAGKQVKSV	AQKTEVFRGVLERLRWFAGKQVKSV	4.0	8.0	unscreened	-	4335_2:31605907-31605907 T>C_AQKTEVFRGVLERLRWFAGKQVKSV
19:58926993-58926993 C>G	0.0	4335	COLON	-	-	-	-	ZNF584	ENST00000322834,p.A83G|uc010yib.2,p.A83G	retained_intron, protein_coding, processed_transcript	uc010yib.2	nonsynonymous SNV	exon3	c.C248G	p.A83G	SWVDVTPVSRAEARRGFGLGPACSC	SWVDVTPVSRAEGRRGFGLGPACSC	5.0	4.0	-	-	4335_19:58926993-58926993 C>G_SWVDVTPVSRAEGRRGFGLGPACSC
1:240072443-240072443 ->A	0.0	4335	COLON	-	-	ID=COSM214535;OCCURENCE=1(breast),1(large_intestine)	-	CHRM3	NM_000740,p.D564fs|uc021plc.1,p.D564fs|ENST00000255380,p.D564fs|uc001hyp.3,p.D564fs	protein_coding, processed_transcript	uc021plc.1	frameshift insertion	exon1	c.1693dupA	p.D564fs	RTTFKMLLLCQCDKKKRRKQQYQQR	RTTFKMLLLCQCDKKKEAQAAVPAETVGHFSQARTRAGLV	5.0	3.0	unscreened	-	4335_1:240072443-240072443 ->A_RTTFKMLLLCQCDKKKEAQAAVPAETVGHFSQARTRAGLV
19:58926993-58926993 C>G	0.0	4335	COLON	-	-	-	-	ZNF584	uc002qsp.3,p.A91G|ENST00000306910,p.A91G|ENST00000593920,p.A46G|NM_173548,p.A91G	retained_intron, protein_coding, processed_transcript	uc002qsp.3	nonsynonymous SNV	exon3	c.C272G	p.A91G	SWVDVTPVSRAEARRGFGLDGLCRV	SWVDVTPVSRAEGRRGFGLDGLCRV	5.0	4.0	-	-	4335_19:58926993-58926993 C>G_SWVDVTPVSRAEGRRGFGLDGLCRV
8:55537830-55537830 T>G	0.0	4335	COLON	-	-	-	-	RP1	NM_006269,p.V463G|uc003xsd.1,p.V463G|ENST00000220676,p.V463G	protein_coding	uc003xsd.1	nonsynonymous SNV	exon4	c.T1388G	p.V463G	TPGLRRVRQKKSVIGSVTLVSETEV	TPGLRRVRQKKSGIGSVTLVSETEV	6.0	1.0	-	-	4335_8:55537830-55537830 T>G_TPGLRRVRQKKSGIGSVTLVSETEV
12:54367389-54367389 G>A	0.0	4335	COLON	-	-	-	1	HOXC11	ENST00000243082,p.G122S|ENST00000546378,p.G122S|uc001sem.3,p.G122S|NM_014212,p.G122S	protein_coding	uc001sem.3	nonsynonymous SNV	exon1	c.G364A	p.G122S	VTEILMKNEGSYGGHHHPSAPHATP	VTEILMKNEGSYSGHHHPSAPHATP	1.0	10.0	unscreened	-	4335_12:54367389-54367389 G>A_VTEILMKNEGSYSGHHHPSAPHATP
5:154305535-154305535 A>G	1.0	4335	COLON	-	-	-	-	GEMIN5	ENST00000285873,p.S394P|uc011ddk.1,p.S393P|NM_015465,p.S394P|uc003lvx.3,p.S394P|NM_001252156,p.S393P	retained_intron, protein_coding	uc011ddk.1	nonsynonymous SNV	exon8	c.T1177C	p.S393P	AYSLAFSSVDIGSLAIGVGDGMIRV	AYSLAFSSVDIGPLAIGVGDGMIRV	5.0	1.0	-	-	4335_5:154305535-154305535 A>G_AYSLAFSSVDIGPLAIGVGDGMIRV
6:147109539-147109539 C>T	0.0	4335	COLON	-	-	-	-	ADGB	ENST00000367490,p.R402C|uc003qlr.3,p.R389C|ENST00000326916,p.R167C|ENST00000367488,p.R167C|ENST00000397944,p.R1444C|uc003qlp.3,p.R696C|uc010khx.3,p.R1444C|NM_024694,p.R1444C|ENST00000470716,p.R108C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010khx.3	nonsynonymous SNV	exon33	c.C4330T	p.R1444C	QTKPKEEVETAARGVKEPNSKNSAG	QTKPKEEVETAACGVKEPNSKNSAG	6.0	10.0	-	-	4335_6:147109539-147109539 C>T_QTKPKEEVETAACGVKEPNSKNSAG
17:59482070-59482070 C>T	0.0	4335	COLON	-	-	-	-	TBX2	NM_005994,p.R331W|uc002ize.3,p.R321W|ENST00000240328,p.R331W|uc002izg.3,p.R177W|uc010wox.2,p.R331W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wox.2	nonsynonymous SNV	exon5	c.C991T	p.R331W	ESDASSCDPPPAREPPTSPGAAPSP	ESDASSCDPPPAWEPPTSPGAAPSP	6.0	10.0	-	-	4335_17:59482070-59482070 C>T_ESDASSCDPPPAWEPPTSPGAAPSP
5:169310480-169310480 C>A	0.0	4335	COLON	-	-	-	-	FAM196B	ENST00000377365,p.Q141H|uc003mag.2,p.Q141H|NM_001129891,p.Q141H	protein_coding, processed_transcript	uc003mag.2	nonsynonymous SNV	exon2	c.G423T	p.Q141H	QSAIQVNGNLSEQDIVSSDLAYLRL	QSAIQVNGNLSEHDIVSSDLAYLRL	1.0	9.0	unscreened	-	4335_5:169310480-169310480 C>A_QSAIQVNGNLSEHDIVSSDLAYLRL
2:242741443-242741443 C>G	0.0	4335	COLON	-	-	-	-	GAL3ST2	uc002wcj.1,p.L123V|ENST00000192314,p.L123V|NM_022134,p.L123V	protein_coding	uc002wcj.1	nonsynonymous SNV	exon3	c.C367G	p.L123V	RFNIMCNHLRFNLPQVQKVMPNDTF	RFNIMCNHLRFNVPQVQKVMPNDTF	5.0	1.0	unscreened	-	4335_2:242741443-242741443 C>G_RFNIMCNHLRFNVPQVQKVMPNDTF
19:16640609-16640609 T>C	1.0	4335	COLON	-	-	-	-	CHERP	ENST00000546361,p.S327G|uc002nei.1,p.S327G|ENST00000198939,p.S338G|NM_006387,p.S327G	retained_intron, protein_coding, processed_transcript	uc002nei.1	nonsynonymous SNV	exon8	c.A979G	p.S327G	QTLKTQHEEFVTSLAQQQQQQQQQQ	QTLKTQHEEFVTGLAQQQQQQQQQQ	10.0	2.0	-	-	4335_19:16640609-16640609 T>C_QTLKTQHEEFVTGLAQQQQQQQQQQ
12:48379724-48379724 G>T	0.0	4335	COLON	-	-	-	1	COL2A1	NM_033150,p.P449T|NM_001844,p.P518T|uc001rqu.3,p.P518T|ENST00000337299,p.P449T|ENST00000380518,p.P518T|uc001rqv.3,p.P449T	retained_intron, protein_coding, processed_transcript	uc001rqv.3	nonsynonymous SNV	exon23	c.C1345A	p.P449T	PGERGAPGNRGFPGQDGLAGPKGAP	PGERGAPGNRGFTGQDGLAGPKGAP	1.0	8.0	unscreened	-	4335_12:48379724-48379724 G>T_PGERGAPGNRGFTGQDGLAGPKGAP
10:105037362-105037362 C>T	0.0	4335	COLON	-	-	-	-	INA	ENST00000369849,p.R132C|NM_032727,p.R132C|uc001kws.3,p.R132C|uc009xxj.3,p.R132C	protein_coding	uc009xxj.3	nonsynonymous SNV	exon1	c.C394T	p.R132C	RALEAELAALRQRHAEPSRVGELFQ	RALEAELAALRQCHAEPSRVGELFQ	1.0	9.0	unscreened	-	4335_10:105037362-105037362 C>T_RALEAELAALRQCHAEPSRVGELFQ
3:142840671-142840671 C>T	0.0	4335	COLON	-	-	-	-	CHST2	uc021xex.1,p.A338V|uc003evm.3,p.A338V|NM_004267,p.A338V|ENST00000309575,p.A338V	protein_coding	uc021xex.1	nonsynonymous SNV	exon1	c.C1013T	p.A338V	KVIHLVRDPRAVASSRIRSRHGLIR	KVIHLVRDPRAVVSSRIRSRHGLIR	3.0	9.0	unscreened	-	4335_3:142840671-142840671 C>T_KVIHLVRDPRAVVSSRIRSRHGLIR
20:49354584-49354584 A>C	0.0	4335	COLON	-	-	-	-	PARD6B	ENST00000396039,p.N86T	protein_coding	ENST00000396039	nonsynonymous SNV	exon2	c.A257C	p.N86T	NDDNYHKAVSTANPLLRIFIQKKGC	NDDNYHKAVSTATPLLRIFIQKKGC	5.0	4.0	unscreened	-	4335_20:49354584-49354584 A>C_NDDNYHKAVSTATPLLRIFIQKKGC
8:116426525-116426525 A>G	0.0	4335	COLON	-	-	-	-	TRPS1	ENST00000220888,p.V1191A|ENST00000395715,p.V1204A|ENST00000520276,p.V1195A|NM_014112,p.V1204A|uc010mcy.3,p.V1191A|uc003ynz.3,p.V1191A|NM_001282902,p.V1195A|uc003yny.3,p.V1204A|uc011lhy.2,p.V1195A|NM_001282903,p.V1197A|ENST00000519076,p.V945A	protein_coding, nonsense_mediated_decay	uc011lhy.2	nonsynonymous SNV	exon6	c.T3584C	p.V1195A	GASKEKTKAPPNVKNEGPLNVVKTE	GASKEKTKAPPNAKNEGPLNVVKTE	8.0	7.0	unscreened	-	4335_8:116426525-116426525 A>G_GASKEKTKAPPNAKNEGPLNVVKTE
20:49354584-49354584 A>C	0.0	4335	COLON	-	-	-	-	PARD6B	ENST00000371610,p.N86T|uc002xvo.3,p.N86T|NM_032521,p.N86T	protein_coding	uc002xvo.3	nonsynonymous SNV	exon2	c.A257C	p.N86T	NDDNYHKAVSTANPLLRIFIQKKEE	NDDNYHKAVSTATPLLRIFIQKKEE	5.0	4.0	unscreened	-	4335_20:49354584-49354584 A>C_NDDNYHKAVSTATPLLRIFIQKKEE
15:101862765-101862765 C>A	0.0	4335	COLON	-	-	-	-	PCSK6	uc010bpd.3,p.D605Y|ENST00000348070,p.D808Y|ENST00000398185,p.D637Y|ENST00000358417,p.D795Y	retained_intron, protein_coding, processed_transcript	uc010bpd.3	nonsynonymous SNV	exon15	c.G1813T	p.D605Y	CLKCHPSCKKCVDEPEKCTVCKEGF	CLKCHPSCKKCVYEPEKCTVCKEGF	6.0	8.0	-	-	4335_15:101862765-101862765 C>A_CLKCHPSCKKCVYEPEKCTVCKEGF
4:39436093-39436093 G>T	0.0	4335	COLON	-	-	-	-	KLB	uc011byj.2,p.M363I|ENST00000257408,p.M363I|uc003gua.3,p.M363I|NM_175737,p.M363I	protein_coding	uc011byj.2	nonsynonymous SNV	exon2	c.G1089T	p.M363I	VLPIFSEAEKHEMRGTADFFAFSFG	VLPIFSEAEKHEIRGTADFFAFSFG	2.0	7.0	unscreened	-	4335_4:39436093-39436093 G>T_VLPIFSEAEKHEIRGTADFFAFSFG
5:142779925-142779925 ->T	0.0	4335	COLON	-	-	-	-	NR3C1	ENST00000424646,p.H160fs|uc003lne.3,p.H160fs|NM_001018075,p.H160fs|NM_001018074,p.H160fs|uc003lnb.3,p.H160fs|NM_001204261,p.H63fs|ENST00000503201,p.H160fs|NM_001204265,p.H160fs|ENST00000504572,p.H160fs|ENST00000394464,p.H160fs|ENST00000231509,p.H160fs|uc003lnd.3,p.H160fs|ENST00000394466,p.H160fs|uc003lni.2,p.H160fs|NM_001018077,p.H160fs|ENST00000415690,p.H160fs|uc003lng.2,p.H160fs|uc003lnc.3,p.H160fs|NM_001024094,p.H160fs|uc003lnf.3,p.H160fs|NM_001018076,p.H160fs|NM_001020825,p.H160fs|ENST00000343796,p.H160fs|uc021yfb.1,p.H160fs|uc003lmy.3,p.H160fs|NM_001204260,p.H71fs|uc003lna.3,p.H160fs|uc031slp.1,p.H160fs|NM_001204258,p.H134fs|NM_000176,p.H160fs|NM_001204259,p.H75fs|uc021yfa.1,p.H160fs	protein_coding, processed_transcript	uc031slp.1	frameshift insertion	exon1	c.479dupA	p.H160fs	SAAPTEKEFPKTHSDVSSEQQHLKG	SAAPTEKEFPKTQL	9.0	9.0	-	-	4335_5:142779925-142779925 ->T_SAAPTEKEFPKTQL
6:51524480-51524480 G>A	0.0	4335	COLON	-	-	ID=COSM173140;OCCURENCE=1(large_intestine),1(stomach)	-	PKHD1	ENST00000371117,p.R3482C|NM_138694,p.R3482C|uc003pah.1,p.R3482C	protein_coding	uc003pah.1	nonsynonymous SNV	exon61	c.C10444T	p.R3482C	KVCFMDQTPQVLRFFLLGNKSTSKL	KVCFMDQTPQVLCFFLLGNKSTSKL	3.0	8.0	unscreened	-	4335_6:51524480-51524480 G>A_KVCFMDQTPQVLCFFLLGNKSTSKL
17:57676116-57676116 A>C	1.0	4335	COLON	-	-	-	-	DHX40	uc002ixn.2,p.K534T|NM_024612,p.K534T|ENST00000451169,p.K486T|NM_001166301,p.K457T|uc010woe.2,p.K457T|ENST00000425628,p.K457T|ENST00000251241,p.K534T|uc010wof.2,p.K49T	retained_intron, protein_coding, nonsense_mediated_decay	uc010wof.2	nonsynonymous SNV	exon2	c.A146C	p.K49T	NVFIRPVDPEYQKEAEQRHRELAAK	NVFIRPVDPEYQTEAEQRHRELAAK	8.0	5.0	-	-	4335_17:57676116-57676116 A>C_NVFIRPVDPEYQTEAEQRHRELAAK
19:39589657-39589657 A>C	0.0	4335	COLON	-	-	-	-	PAPL	uc002oki.3,p.K127T|ENST00000594229,p.K127T|NM_001004318,p.K127T|ENST00000331256,p.K127T|uc010egl.3,p.K127T|ENST00000601575,p.K127T	protein_coding, nonsense_mediated_decay	uc010egl.3	nonsynonymous SNV	exon3	c.A380C	p.K127T	QGWSRRFRFRALKNGAHWSPRLAVF	QGWSRRFRFRALTNGAHWSPRLAVF	1.0	5.0	unscreened	-	4335_19:39589657-39589657 A>C_QGWSRRFRFRALTNGAHWSPRLAVF
3:128204594-128204594 G>A	0.0	4335	COLON	-	-	ID=COSM1037987;OCCURENCE=1(endometrium)	1	GATA2	ENST00000341105,p.R283C|uc003ekn.3,p.R283C|NM_001145662,p.R283C|uc003eko.2,p.R283C|uc003ekm.3,p.R283C|NM_001145661,p.R283C|ENST00000487848,p.R283C|NM_032638,p.R283C|ENST00000430265,p.R283C	protein_coding, processed_transcript	uc003eko.2	nonsynonymous SNV	exon3	c.C847T	p.R283C	LGGPASSFTPKQRSKARSCSEGREC	LGGPASSFTPKQCSKARSCSEGREC	7.0	9.0	-	-	4335_3:128204594-128204594 G>A_LGGPASSFTPKQCSKARSCSEGREC
11:111225001-111225002 AG>-	0.0	4335	COLON	-	-	-	1	POU2AF1	ENST00000393067,p.S252fs|NM_006235,p.S252fs|uc001plg.4,p.S252fs	protein_coding, processed_transcript	uc001plg.4	frameshift deletion	exon5	c.755_756del	p.S252fs	EDSDAYALNHTLSVEGF	EDSDAYALNHTLCGRLL	5.0	8.0	unscreened	-	4335_11:111225001-111225002 AG>-_EDSDAYALNHTLCGRLL
1:43102994-43102994 A>C	0.0	4335	COLON	-	-	-	-	CCDC30	ENST00000507855,p.K317T|uc001chn.2,p.K317T|ENST00000342022,p.K528T|ENST00000428554,p.K528T|uc001chm.2,p.K226T|ENST00000390640,p.K317T|ENST00000477155,p.K226T|ENST00000340612,p.K528T|NM_001080850,p.K528T|uc009vwk.1,p.K528T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009vwk.1	nonsynonymous SNV	exon11	c.A1583C	p.K528T	KYRLTNEVELRDKRINQFEDEIGIL	KYRLTNEVELRDTRINQFEDEIGIL	5.0	3.0	-	-	4335_1:43102994-43102994 A>C_KYRLTNEVELRDTRINQFEDEIGIL
1:92946551-92946551 G>T	0.0	4335	COLON	-	-	-	-	GFI1	ENST00000427103,p.D131E|ENST00000370332,p.D131E|NM_005263,p.D131E|NM_001127215,p.D131E|ENST00000294702,p.D131E|uc001dov.4,p.D131E|uc001dow.4,p.D131E|uc001dou.4,p.D131E|NM_001127216,p.D131E	protein_coding, processed_transcript	uc001dow.4	nonsynonymous SNV	exon4	c.C393A	p.D131E	FKPYSWSGLAGSDLRHLVQSYRPCG	FKPYSWSGLAGSELRHLVQSYRPCG	5.0	3.0	-	-	4335_1:92946551-92946551 G>T_FKPYSWSGLAGSELRHLVQSYRPCG
19:58926993-58926993 C>G	0.0	4335	COLON	-	-	-	-	ZNF584	uc010yia.3,p.A46G|ENST00000599238,p.A46G	retained_intron, protein_coding, processed_transcript	uc010yia.3	nonsynonymous SNV	exon3	c.C137G	p.A46G	SWVDVTPVSRAEARRGFGLVCHLYH	SWVDVTPVSRAEGRRGFGLVCHLYH	5.0	4.0	-	-	4335_19:58926993-58926993 C>G_SWVDVTPVSRAEGRRGFGLVCHLYH
7:97822898-97822898 G>A	1.0	4335	COLON	-	-	-	-	LMTK2	NM_014916,p.E1041K|uc003upd.2,p.E1041K|ENST00000297293,p.E1041K	protein_coding, processed_transcript	uc003upd.2	nonsynonymous SNV	exon11	c.G3121A	p.E1041K	DSGYETENLESPEWTLHPAPEGTAD	DSGYETENLESPKWTLHPAPEGTAD	7.0	6.0	-	-	4335_7:97822898-97822898 G>A_DSGYETENLESPKWTLHPAPEGTAD
10:101981889-101981889 A>C	0.0	4335	COLON	-	-	-	-	CHUK	uc001kqp.3,p.L122R|NM_001278,p.L122R|ENST00000370397,p.L122R	protein_coding, processed_transcript	uc001kqp.3	nonsynonymous SNV	exon4	c.T365G	p.L122R	PENCCGLKESQILSLLSDIGSGIRY	PENCCGLKESQIRSLLSDIGSGIRY	7.0	2.0	-	-	4335_10:101981889-101981889 A>C_PENCCGLKESQIRSLLSDIGSGIRY
12:110628752-110628752 T>A	0.0	4335	COLON	-	-	-	-	IFT81	NM_014055,p.S456T|uc001tqi.3,p.S456T|ENST00000242591,p.S456T|NM_001143779,p.S456T|uc001tqh.3,p.S456T|ENST00000552912,p.S456T	protein_coding, processed_transcript, nonsense_mediated_decay	uc001tqi.3	nonsynonymous SNV	exon13	c.T1366A	p.S456T	QQLQTMEEKKGISGYSYTQEELERV	QQLQTMEEKKGITGYSYTQEELERV	6.0	1.0	-	-	4335_12:110628752-110628752 T>A_QQLQTMEEKKGITGYSYTQEELERV
1:152080712-152080712 G>C	0.0	4335	COLON	-	-	-	-	TCHH	uc009wne.1,p.L1661V|ENST00000368804,p.L1661V|NM_007113,p.L1661V|uc001ezp.3,p.L1661V	protein_coding	uc009wne.1	nonsynonymous SNV	exon3	c.C4981G	p.L1661V	EPQLRRQEREQQLRHDRDRKFREEE	EPQLRRQEREQQVRHDRDRKFREEE	5.0	3.0	-	-	4335_1:152080712-152080712 G>C_EPQLRRQEREQQVRHDRDRKFREEE
7:76028052-76028052 G>C	0.0	4335	COLON	-	-	-	-	SSC4D	ENST00000275560,p.L180V|NM_080744,p.L180V|uc003ufb.3,p.L180V	protein_coding, processed_transcript	uc003ufb.3	nonsynonymous SNV	exon5	c.C538G	p.L180V	RKMLTSRAPPTTLPNGKSEGSVRLV	RKMLTSRAPPTTVPNGKSEGSVRLV	4.0	6.0	unscreened	-	4335_7:76028052-76028052 G>C_RKMLTSRAPPTTVPNGKSEGSVRLV
21:10971335-10971335 T>A	0.0	4335	COLON	-	-	-	-	TPTE	uc002yiq.1,p.T8S|NM_199259,p.T8S|uc002yip.1,p.T8S|NM_199260,p.T8S|NM_199261,p.T8S|ENST00000328758,p.T8S|ENST00000342420,p.T8S|ENST00000361285,p.T8S|uc002yir.1,p.T8S|ENST00000298232,p.T8S	protein_coding, processed_transcript	uc002yir.1	nonsynonymous SNV	exon5	c.A22T	p.T8S	MNESPDPTDLAGVIIELGPN	MNESPDPSDLAGVIIELGPN	1.0	9.0	unscreened	-	4335_21:10971335-10971335 T>A_MNESPDPSDLAGVIIELGPN
7:100350582-100350582 C>A	0.0	4335	COLON	-	-	-	-	ZAN	uc003uwk.3,p.P952T|ENST00000546292,p.P952T|uc003uwj.3,p.P952T|ENST00000538115,p.P952T|ENST00000542585,p.P952T	protein_coding, polymorphic_pseudogene	uc003uwk.3	nonsynonymous SNV	exon14	c.C2854A	p.P952T	KLTIPTEKPTISPEKLTIPTEKPTI	KLTIPTEKPTISTEKLTIPTEKPTI	2.0	9.0	unscreened	-	4335_7:100350582-100350582 C>A_KLTIPTEKPTISTEKLTIPTEKPTI
16:88496945-88496945 C>T	0.0	4335	COLON	-	-	-	-	ZNF469	NM_001127464,p.R1023C|uc002fku.2,p.R1023C|ENST00000565624,p.R1023C|ENST00000437464,p.R1023C	protein_coding	uc002fku.2	nonsynonymous SNV	exon1	c.C3067T	p.R1023C	RVPRAAALPEETRSSRRRRLPPRKD	RVPRAAALPEETCSSRRRRLPPRKD	6.0	9.0	-	-	4335_16:88496945-88496945 C>T_RVPRAAALPEETCSSRRRRLPPRKD
X:132160687-132160687 A>C	0.0	4335	COLON	-	-	-	-	USP26	ENST00000406273,p.L521R|uc010nrm.1,p.L521R|NM_031907,p.L521R|ENST00000511190,p.L521R|uc011mvf.2,p.L521R|ENST00000370832,p.L521R	protein_coding, processed_transcript	uc011mvf.2	nonsynonymous SNV	exon1	c.T1562G	p.L521R	SFSRLPRILIVHLKRYSLNEFCALK	SFSRLPRILIVHRKRYSLNEFCALK	1.0	3.0	unscreened	-	4335_X:132160687-132160687 A>C_SFSRLPRILIVHRKRYSLNEFCALK
15:42113073-42113073 A>C	0.0	4335	COLON	-	-	-	-	MAPKBP1	ENST00000221214,p.N725T|uc010bci.3,p.N842T|NM_014994,p.N842T|NM_001128608,p.N848T|NM_001265611,p.N842T|ENST00000456763,p.N848T|ENST00000457542,p.N842T|uc010bcj.3,p.N349T|uc010bck.3,p.N59T|ENST00000514566,p.N842T|uc010bcl.3,p.N349T|uc010udb.2,p.N681T|uc001zoj.4,p.N842T|uc001zok.4,p.N848T|ENST00000260357,p.N681T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010udb.2	nonsynonymous SNV	exon21	c.A2042C	p.N681T	ESVGFLDPAPAANPGPRRRGRWVQP	ESVGFLDPAPAATPGPRRRGRWVQP	6.0	3.0	-	-	4335_15:42113073-42113073 A>C_ESVGFLDPAPAATPGPRRRGRWVQP
12:57843348-57843348 T>G	0.0	4335	COLON	-	-	-	-	INHBC	ENST00000550133,p.L201R	protein_coding	ENST00000550133	nonsynonymous SNV	exon2	c.T602G	p.L201R	ACSQGHLTLELVLEGQVAQI	ACSQGHLTLELVREGQVAQI	2.0	8.0	unscreened	-	4335_12:57843348-57843348 T>G_ACSQGHLTLELVREGQVAQI
1:229568145-229568145 T>C	0.0	4335	COLON	-	-	-	-	ACTA1	uc001htm.3,p.H163R|ENST00000366684,p.H163R|NM_001100,p.H163R	protein_coding	uc001htm.3	nonsynonymous SNV	exon4	c.A488G	p.H163R	TGIVLDSGDGVTHNVPIYEGYALPH	TGIVLDSGDGVTRNVPIYEGYALPH	4.0	7.0	unscreened	-	4335_1:229568145-229568145 T>C_TGIVLDSGDGVTRNVPIYEGYALPH
7:128454717-128454717 G>A	0.0	4335	COLON	-	-	-	-	CCDC136	uc010llq.2,p.R299Q|ENST00000297788,p.R930Q|NM_022742,p.R930Q|uc003vnv.2,p.R930Q|uc003vnx.2,p.R746Q	retained_intron, protein_coding, processed_transcript	uc010llq.2	nonsynonymous SNV	exon12	c.G896A	p.R299Q	DKNEIKELQTKLRELQLQYQASMDE	DKNEIKELQTKLQELQLQYQASMDE	4.0	5.0	unscreened	-	4335_7:128454717-128454717 G>A_DKNEIKELQTKLQELQLQYQASMDE
15:23890935-23890935 G>C	0.0	4335	COLON	-	-	-	-	MAGEL2	NM_019066,p.A652G|uc001ywj.4,p.A652G|ENST00000532292,p.A49G	protein_coding	uc001ywj.4	nonsynonymous SNV	exon1	c.C1955G	p.A652G	PPLVQLEQPFQGAPPSQKAVQIQLP	PPLVQLEQPFQGGPPSQKAVQIQLP	1.0	9.0	unscreened	-	4335_15:23890935-23890935 G>C_PPLVQLEQPFQGGPPSQKAVQIQLP
17:48272135-48272135 C>G	0.0	4335	COLON	-	-	-	1	COL1A1	uc002iqm.3,p.G470R|ENST00000225964,p.G470R|NM_000088,p.G470R	retained_intron, protein_coding	uc002iqm.3	nonsynonymous SNV	exon21	c.G1408C	p.G470R	GPPGPAGEEGKRGARGEPGPTGLPG	GPPGPAGEEGKRRARGEPGPTGLPG	10.0	7.0	unscreened	-	4335_17:48272135-48272135 C>G_GPPGPAGEEGKRRARGEPGPTGLPG
1:176668471-176668471 G>-	0.0	4335	COLON	-	-	-	-	PAPPA2	NM_020318,p.V994fs|ENST00000367662,p.V994fs|uc001gkz.3,p.V994fs	protein_coding, processed_transcript	uc001gkz.3	frameshift deletion	exon8	c.2982delG	p.V994fs	FDTEILLENKESVHLGPLDTFCDIPL	FDTEILLENKESVTWAP	3.0	8.0	unscreened	-	4335_1:176668471-176668471 G>-_FDTEILLENKESVTWAP
13:95818510-95818510 T>G	0.0	4335	COLON	-	-	-	-	ABCC4	uc001vmd.4,p.T646P|uc010afk.3,p.T646P|NM_001301829,p.T646P|NM_005845,p.T646P|ENST00000536256,p.T571P|uc001vme.2,p.T646P|NM_001301830,p.T571P|uc010afl.1,p.T603P|uc001vmf.2,p.T603P|ENST00000376887,p.T646P|ENST00000431522,p.T646P|ENST00000412704,p.T646P|NM_001105515,p.T646P|uc010tih.1,p.T571P|uc010afm.1,p.T659P	protein_coding, processed_transcript	uc010tih.1	nonsynonymous SNV	exon14	c.A1711C	p.T571P	DNEESEQPPVPGTPTLRNRTFSESS	DNEESEQPPVPGPPTLRNRTFSESS	6.0	1.0	-	-	4335_13:95818510-95818510 T>G_DNEESEQPPVPGPPTLRNRTFSESS
2:171678639-171678639 A>T	0.0	4335	COLON	-	-	-	-	GAD1	NM_000817,p.K42I|ENST00000454603,p.K42I|ENST00000456864,p.K42I|ENST00000455008,p.K42I|ENST00000414527,p.K42I|NM_013445,p.K42I|ENST00000344257,p.K42I|ENST00000375272,p.K42I|ENST00000358196,p.K42I|uc002ugh.3,p.K42I|uc002ugi.3,p.K42I|ENST00000493875,p.K42I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ugi.3	nonsynonymous SNV	exon3	c.A125T	p.K42I	DTWCGVAHGCTRKLGLKICGFLQRT	DTWCGVAHGCTRILGLKICGFLQRT	4.0	6.0	unscreened	-	4335_2:171678639-171678639 A>T_DTWCGVAHGCTRILGLKICGFLQRT
20:44676715-44676715 A>C	0.0	4335	COLON	-	-	-	-	SLC12A5	NM_001134771,p.K691T|uc010zxl.1,p.K691T|ENST00000454036,p.K691T|uc002xrb.2,p.K668T|ENST00000243964,p.K668T|NM_020708,p.K668T	protein_coding	uc010zxl.1	nonsynonymous SNV	exon16	c.A2072C	p.K691T	ALLRLEEGPPHTKNWRPQLLVLVRV	ALLRLEEGPPHTTNWRPQLLVLVRV	2.0	4.0	unscreened	-	4335_20:44676715-44676715 A>C_ALLRLEEGPPHTTNWRPQLLVLVRV
19:15133921-15133921 C>T	0.0	4335	COLON	-	-	-	-	CCDC105	NM_173482,p.A497V|ENST00000292574,p.A497V|uc002nae.2,p.A497V	protein_coding	uc002nae.2	nonsynonymous SNV	exon7	c.C1490T	p.A497V	DPRTPPPRSKSSADP	DPRTPPPRSKSSVDP	1.0	9.0	unscreened	-	4335_19:15133921-15133921 C>T_DPRTPPPRSKSSVDP
11:82444408-82444408 C>T	0.0	4335	COLON	-	-	-	-	FAM181B	uc001ozp.3,p.D122N|ENST00000329203,p.D122N|NM_175885,p.D122N	protein_coding	uc001ozp.3	nonsynonymous SNV	exon1	c.G364A	p.D122N	AAPPGPPSPSAADTPAKRPLAAPSA	AAPPGPPSPSAANTPAKRPLAAPSA	1.0	9.0	unscreened	-	4335_11:82444408-82444408 C>T_AAPPGPPSPSAANTPAKRPLAAPSA
9:127262898-127262898 C>T	0.0	4335	COLON	-	-	-	-	NR5A1	uc004boo.1,p.R114Q|NM_004959,p.R114Q|uc022bnh.1,p.R114Q|ENST00000455734,p.R114Q|ENST00000373588,p.R114Q	protein_coding	uc022bnh.1	nonsynonymous SNV	exon3	c.G341A	p.R114Q	DRALKQQKKAQIRANGFKLETGPPM	DRALKQQKKAQIQANGFKLETGPPM	2.0	9.0	unscreened	-	4335_9:127262898-127262898 C>T_DRALKQQKKAQIQANGFKLETGPPM
11:77930329-77930329 C>A	0.0	4335	COLON	-	-	-	-	GAB2	ENST00000340149,p.A636S|uc001ozh.3,p.A674S|ENST00000361507,p.A674S|NM_080491,p.A674S|NM_012296,p.A636S|uc001ozg.3,p.A636S	retained_intron, protein_coding, processed_transcript	uc001ozh.3	nonsynonymous SNV	exon10	c.G2020T	p.A674S	TDVRQSSEPSKGAKL	TDVRQSSEPSKGSKL	9.0	8.0	-	-	4335_11:77930329-77930329 C>A_TDVRQSSEPSKGSKL
15:40574726-40574726 T>C	0.0	4335	COLON	-	-	-	-	ANKRD63	NM_001190479,p.Q21R|ENST00000434396,p.Q21R|uc021sjf.1,p.Q21R	protein_coding	uc021sjf.1	nonsynonymous SNV	exon1	c.A62G	p.Q21R	PRAGTRTFLEAMQAGKVHLARFVLD	PRAGTRTFLEAMRAGKVHLARFVLD	1.0	5.0	unscreened	-	4335_15:40574726-40574726 T>C_PRAGTRTFLEAMRAGKVHLARFVLD
5:140347316-140347316 ->A	0.0	4335	COLON	-	-	-	-	PCDHAC2	uc003lii.3,p.G322fs|NM_031883,p.G322fs|NM_018899,p.G322fs|ENST00000289269,p.G322fs|uc011dag.2,p.G322fs	protein_coding	uc011dag.2	frameshift insertion	exon1	c.965_966insA	p.G322fs	IDASTGEVRVIGGLDYEEASSYQIY	IDASTGEVRVIGGAGL	3.0	5.0	unscreened	-	4335_5:140347316-140347316 ->A_IDASTGEVRVIGGAGL
13:95131229-95131229 G>T	0.0	4335	COLON	-	-	-	-	DCT	ENST00000446125,p.T94N|uc010afh.3,p.T94N|NM_001922,p.T94N|uc001vlv.4,p.T94N|NM_001129889,p.T94N|ENST00000377028,p.T94N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010afh.3	nonsynonymous SNV	exon1	c.C281A	p.T94N	DRELWPRKFFHRTCKCTGNFAGYNC	DRELWPRKFFHRNCKCTGNFAGYNC	3.0	8.0	unscreened	-	4335_13:95131229-95131229 G>T_DRELWPRKFFHRNCKCTGNFAGYNC
11:55111375-55111375 A>C	0.0	4335	COLON	-	-	ID=COSM3687367;OCCURENCE=1(large_intestine)	-	OR4A16	uc010rie.2,p.K233N|NM_001005274,p.K233N|ENST00000314721,p.K233N	protein_coding	uc010rie.2	nonsynonymous SNV	exon1	c.A699C	p.K233N	NFLKTYSQEERHKALPTCISHIIVV	NFLKTYSQEERHNALPTCISHIIVV	1.0	6.0	unscreened	-	4335_11:55111375-55111375 A>C_NFLKTYSQEERHNALPTCISHIIVV
4:17524622-17524622 C>G	0.0	4335	COLON	-	-	-	-	CLRN2	NM_001079827,p.A130G|ENST00000511148,p.A130G|uc003gpg.1,p.A130G	protein_coding	uc003gpg.1	nonsynonymous SNV	exon2	c.C389G	p.A130G	FAILNMIQVPYRAVSGPGGICLWNV	FAILNMIQVPYRGVSGPGGICLWNV	1.0	6.0	unscreened	-	4335_4:17524622-17524622 C>G_FAILNMIQVPYRGVSGPGGICLWNV
13:108862190-108862190 C>T	0.0	4335	COLON	-	-	-	-	LIG4	uc001vqn.3,p.R476Q|NM_001098268,p.R476Q|uc010agg.1,p.R409Q|ENST00000442234,p.R476Q|ENST00000405925,p.R476Q|uc001vqp.3,p.R476Q|ENST00000356922,p.R476Q|uc010agf.3,p.R476Q|uc001vqo.3,p.R476Q|uc021rmk.1,p.R476Q|NM_002312,p.R476Q|NM_206937,p.R476Q	protein_coding	uc021rmk.1	nonsynonymous SNV	exon1	c.G1427A	p.R476Q	ILIVGGYWGKGSRGGMMSHFLCAVA	ILIVGGYWGKGSQGGMMSHFLCAVA	6.0	8.0	-	-	4335_13:108862190-108862190 C>T_ILIVGGYWGKGSQGGMMSHFLCAVA
6:90660239-90660239 G>A	0.0	4335	COLON	-	-	ID=COSM451936,COSM451935;OCCURENCE=1(breast)	-	BACH2	ENST00000343122,p.A529V|ENST00000257749,p.A529V|ENST00000537989,p.A529V|uc011eab.2,p.A529V|NM_021813,p.A529V|uc003pnw.3,p.A529V|NM_001170794,p.A529V|uc010kch.3,p.A529V	protein_coding, processed_transcript	uc011eab.2	nonsynonymous SNV	exon7	c.C1586T	p.A529V	TRTSSSCSSYSYAEDGSGGSPCSLP	TRTSSSCSSYSYVEDGSGGSPCSLP	4.0	8.0	unscreened	-	4335_6:90660239-90660239 G>A_TRTSSSCSSYSYVEDGSGGSPCSLP
13:23929383-23929383 G>C	0.0	4335	COLON	-	-	-	-	SACS	uc001uoq.1,p.S309R|uc001uoo.3,p.S309R|uc001uop.1,p.S243R|NM_001278055,p.S309R|uc001uon.3,p.S456R|ENST00000423156,p.S80R|NM_014363,p.S456R|ENST00000382292,p.S456R|ENST00000382298,p.S456R	protein_coding, processed_transcript	uc001uoq.1	nonsynonymous SNV	exon4	c.C927G	p.S309R	AFCFLPLPPGEESSTGLPVHISGFF	AFCFLPLPPGEERSTGLPVHISGFF	5.0	8.0	-	-	4335_13:23929383-23929383 G>C_AFCFLPLPPGEERSTGLPVHISGFF
1:53925625-53925625 G>A	0.0	4335	COLON	-	-	-	-	DMRTB1	ENST00000371445,p.A167T|NM_033067,p.A167T|uc001cvq.1,p.A167T	protein_coding, processed_transcript	uc001cvq.1	nonsynonymous SNV	exon1	c.G499A	p.A167T	PSLAGPPFGAEAAGSGYPGPLDLRR	PSLAGPPFGAEATGSGYPGPLDLRR	1.0	8.0	unscreened	-	4335_1:53925625-53925625 G>A_PSLAGPPFGAEATGSGYPGPLDLRR
5:147024496-147024496 C>T	0.0	4335	COLON	-	-	ID=COSM272830;OCCURENCE=1(large_intestine)	-	JAKMIP2	uc003loq.2,p.A334T|ENST00000333010,p.A292T|ENST00000507386,p.A334T|uc011dbx.2,p.A292T|ENST00000265272,p.A334T|uc003lor.2,p.A334T|NM_014790,p.A334T|NM_001270941,p.A334T|NM_001282282,p.A292T|uc010jgo.2,p.A334T|NM_001270934,p.A334T	retained_intron, protein_coding	uc011dbx.2	nonsynonymous SNV	exon5	c.G874A	p.A292T	QCKPLLERNKCLAKRNDELMVSLQR	QCKPLLERNKCLTKRNDELMVSLQR	5.0	8.0	-	-	4335_5:147024496-147024496 C>T_QCKPLLERNKCLTKRNDELMVSLQR
6:49754266-49754266 A>T	0.0	4335	COLON	-	-	-	-	PGK2	ENST00000304801,p.L212H|uc003ozu.3,p.L212H|NM_138733,p.L212H	protein_coding	uc003ozu.3	nonsynonymous SNV	exon1	c.T635A	p.L212H	ALENPVRPFLAILGGAKVADKIQLI	ALENPVRPFLAIHGGAKVADKIQLI	1.0	3.0	unscreened	-	4335_6:49754266-49754266 A>T_ALENPVRPFLAIHGGAKVADKIQLI
6:28097613-28097613 A>C	0.0	4335	COLON	-	-	-	-	ZSCAN16	ENST00000340487,p.Q311P|uc003nkm.3,p.Q311P|NM_025231,p.Q311P	protein_coding	uc003nkm.3	nonsynonymous SNV	exon4	c.A932C	p.Q311P	KDFSGRTGLIQHQRIHTGEKPYECD	KDFSGRTGLIQHPRIHTGEKPYECD	5.0	4.0	-	-	4335_6:28097613-28097613 A>C_KDFSGRTGLIQHPRIHTGEKPYECD
3:11301909-11301909 T>A	0.0	4335	COLON	-	-	-	-	HRH1	uc021wtb.1,p.S396T|NM_000861,p.S396T|NM_001098213,p.S396T|NM_001098212,p.S396T|ENST00000438284,p.S396T|uc010hdr.3,p.S396T|ENST00000397056,p.S396T|uc010hds.3,p.S396T|ENST00000431010,p.S396T|uc010hdt.3,p.S396T|NM_001098211,p.S396T|uc003bwb.4,p.S396T	protein_coding	uc021wtb.1	nonsynonymous SNV	exon1	c.T1186A	p.S396T	LDYIKFTWKRLRSHSRQYVSGLHMN	LDYIKFTWKRLRTHSRQYVSGLHMN	5.0	5.0	unscreened	-	4335_3:11301909-11301909 T>A_LDYIKFTWKRLRTHSRQYVSGLHMN
8:3889519-3889519 G>T	0.0	4335	COLON	-	-	-	-	CSMD1	ENST00000539096,p.P173H|ENST00000520002,p.P173H|NM_033225,p.P173H|ENST00000537824,p.P173H|uc022aqr.1,p.P173H|ENST00000542608,p.P173H|ENST00000602557,p.P173H|ENST00000400186,p.P173H|ENST00000602723,p.P173H	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon4	c.C518A	p.P173H	FNIGDKIRYSCLPGYILEGHAILTC	FNIGDKIRYSCLHGYILEGHAILTC	3.0	5.0	unscreened	-	4335_8:3889519-3889519 G>T_FNIGDKIRYSCLHGYILEGHAILTC
3:194313778-194313778 A>T	0.0	4335	COLON	-	-	-	-	TMEM44	uc011bsv.2,p.S400T|ENST00000473092,p.S400T|NM_138399,p.S400T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bsv.2	nonsynonymous SNV	exon10	c.T1198A	p.S400T	NSDLEKYWEALNSEQWDPEDVNLEG	NSDLEKYWEALNTEQWDPEDVNLEG	6.0	1.0	-	-	4335_3:194313778-194313778 A>T_NSDLEKYWEALNTEQWDPEDVNLEG
3:194313778-194313778 A>T	0.0	4335	COLON	-	-	-	-	TMEM44	ENST00000432352,p.S159T|ENST00000273580,p.S401T|uc021xjc.1,p.S133T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjc.1	nonsynonymous SNV	exon5	c.T397A	p.S133T	SDLEQKYWEALNSEQWDPEDVNLEG	SDLEQKYWEALNTEQWDPEDVNLEG	6.0	1.0	-	-	4335_3:194313778-194313778 A>T_SDLEQKYWEALNTEQWDPEDVNLEG
X:12904574-12904574 T>C	0.0	4335	COLON	-	-	-	-	TLR7	uc004cvc.3,p.L316P|ENST00000380659,p.L316P|NM_016562,p.L316P	protein_coding, processed_transcript	uc004cvc.3	nonsynonymous SNV	exon3	c.T947C	p.L316P	HVPPRWFKNINKLQELDLSQNFLAK	HVPPRWFKNINKPQELDLSQNFLAK	5.0	8.0	unscreened	-	4335_X:12904574-12904574 T>C_HVPPRWFKNINKPQELDLSQNFLAK
17:33806306-33806306 A>C	0.0	4335	COLON	-	-	-	-	SLFN12L	ENST00000361112,p.L337R|ENST00000260908,p.L308R|NM_001195790,p.L308R|ENST00000449046,p.L339R|uc021tuy.1,p.L308R|uc002hjn.3,p.L337R	retained_intron, protein_coding	uc021tuy.1	nonsynonymous SNV	exon2	c.T923G	p.L308R	VEKGTINYLCKFLGVYDKGRLCGYV	VEKGTINYLCKFRGVYDKGRLCGYV	5.0	4.0	unscreened	-	4335_17:33806306-33806306 A>C_VEKGTINYLCKFRGVYDKGRLCGYV
1:154934042-154934042 G>A	0.0	4335	COLON	-	-	-	-	PYGO2	NM_138300,p.S4L|ENST00000368457,p.S4L|uc001fft.3,p.S4L	protein_coding, processed_transcript	uc001fft.3	nonsynonymous SNV	exon1	c.C11T	p.S4L	MAASAPPPPDKLEGGG	MAALAPPPPDKLEGGG	4.0	8.0	unscreened	-	4335_1:154934042-154934042 G>A_MAALAPPPPDKLEGGG
13:101264662-101264662 T>C	0.0	4335	COLON	-	-	-	-	TMTC4	ENST00000376234,p.Q666R|NM_001286453,p.Q555R|ENST00000342624,p.Q685R|ENST00000328767,p.Q555R|uc010tja.2,p.Q555R|uc001vot.3,p.Q685R|NM_001079669,p.Q666R|NM_032813,p.Q685R|uc001vou.3,p.Q666R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tja.2	nonsynonymous SNV	exon14	c.A1664G	p.Q555R	LMFSLANVLGKSQKYKESEALFLKA	LMFSLANVLGKSRKYKESEALFLKA	7.0	3.0	-	-	4335_13:101264662-101264662 T>C_LMFSLANVLGKSRKYKESEALFLKA
10:98824589-98824589 A>C	0.0	4335	COLON	-	-	ID=COSM1321965;OCCURENCE=1(ovary)	-	SLIT1	NM_003061,p.F177C|ENST00000314867,p.F160C|ENST00000371041,p.F177C|ENST00000266058,p.F177C|uc001kmw.2,p.F177C|uc009xvh.1,p.F177C|ENST00000371070,p.F177C	protein_coding, processed_transcript	uc009xvh.1	nonsynonymous SNV	exon6	c.T530G	p.F177C	DKNQISCIEEGAFRALRGLEVLTLN	DKNQISCIEEGACRALRGLEVLTLN	3.0	5.0	unscreened	-	4335_10:98824589-98824589 A>C_DKNQISCIEEGACRALRGLEVLTLN
16:76350351-76350351 T>G	0.0	4335	COLON	-	-	-	-	CNTNAP4	ENST00000377504,p.S42A|uc002fex.1,p.S46A|uc010chb.1,p.S18A|NM_138994,p.S18A|ENST00000307431,p.S42A|uc002few.2,p.S18A|ENST00000476707,p.S46A|ENST00000478060,p.S18A	retained_intron, protein_coding, processed_transcript, TEC	uc010chb.1	nonsynonymous SNV	exon2	c.T52G	p.S18A	CDDPLVSALPQASFSSSSELSSSHG	CDDPLVSALPQAAFSSSSELSSSHG	1.0	4.0	unscreened	-	4335_16:76350351-76350351 T>G_CDDPLVSALPQAAFSSSSELSSSHG
15:24922164-24922164 G>A	0.0	4335	COLON	-	-	-	-	NPAP1	ENST00000329468,p.D384N|NM_018958,p.D384N|uc001ywo.3,p.D384N	protein_coding	uc001ywo.3	nonsynonymous SNV	exon1	c.G1150A	p.D384N	SPEYKRNSRILEDKTETMTNSSITQ	SPEYKRNSRILENKTETMTNSSITQ	1.0	7.0	unscreened	-	4335_15:24922164-24922164 G>A_SPEYKRNSRILENKTETMTNSSITQ
16:2819045-2819045 G>A	1.0	4335	COLON	-	-	-	-	SRRM2	NM_016333,p.R2594H|uc002crk.3,p.R2594H|ENST00000301740,p.R2594H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002crk.3	nonsynonymous SNV	exon12	c.G7781A	p.R2594H	PTPAPKEAVREGRPPEPTPAKRKRR	PTPAPKEAVREGHPPEPTPAKRKRR	10.0	7.0	-	-	4335_16:2819045-2819045 G>A_PTPAPKEAVREGHPPEPTPAKRKRR
17:48272134-48272134 C>A	0.0	4335	COLON	-	-	-	1	COL1A1	uc002iqm.3,p.G470V|NM_000088,p.G470V|ENST00000225964,p.G470V	retained_intron, protein_coding	uc002iqm.3	nonsynonymous SNV	exon21	c.G1409T	p.G470V	GPPGPAGEEGKRGARGEPGPTGLPG	GPPGPAGEEGKRVARGEPGPTGLPG	10.0	7.0	unscreened	-	4335_17:48272134-48272134 C>A_GPPGPAGEEGKRVARGEPGPTGLPG
20:1961225-1961225 T>C	0.0	4335	COLON	-	-	-	-	PDYN	uc010gaj.3,p.E170G|uc002wfv.3,p.E170G|uc021vzu.1,p.E170G|NM_001190899,p.E170G|ENST00000540134,p.E170G|ENST00000217305,p.E170G|ENST00000539905,p.E170G|NM_001190898,p.E170G|NM_001190892,p.E170G|NM_024411,p.E170G|uc021vzs.1,p.E170G|NM_001190900,p.E170G|uc021vzt.1,p.E170G	protein_coding	uc021vzu.1	nonsynonymous SNV	exon3	c.A509G	p.E170G	TGTLYLAEEDPKEQVKRYGGFLRKY	TGTLYLAEEDPKGQVKRYGGFLRKY	1.0	3.0	unscreened	-	4335_20:1961225-1961225 T>C_TGTLYLAEEDPKGQVKRYGGFLRKY
17:6021344-6021344 G>A	0.0	4335	COLON	-	-	ID=COSM179329;OCCURENCE=2(large_intestine)	-	WSCD1	ENST00000574946,p.R404H|ENST00000539421,p.R404H|uc031qyk.1,p.R288H|uc002gcn.3,p.R404H|uc010clj.3,p.R95H|NM_015253,p.R404H|ENST00000317744,p.R404H|ENST00000574232,p.R404H|ENST00000573634,p.R288H|uc002gco.3,p.R404H|uc010cli.3,p.R404H	protein_coding, processed_transcript, nonsense_mediated_decay	uc031qyk.1	nonsynonymous SNV	exon7	c.G863A	p.R288H	GFKGEKDHWRSRRTICVKTHESGRR	GFKGEKDHWRSRHTICVKTHESGRR	3.0	4.0	unscreened	-	4335_17:6021344-6021344 G>A_GFKGEKDHWRSRHTICVKTHESGRR
1:159824677-159824677 C>G	0.0	4335	COLON	-	-	-	-	C1orf204,VSIG8	NM_001134233,p.V68L|ENST00000368100,p.V371L|ENST00000368102,p.V68L|NM_001013661,p.V371L|uc001fug.1,p.V68L|uc001fuh.3,p.V371L	 processed_transcript,protein_coding	uc001fuh.3	nonsynonymous SNV	exon7	c.G1111C	p.V371L	KYAPPPCGGPEDVALAPCTAAAACE	KYAPPPCGGPEDLALAPCTAAAACE	3.0	8.0	unscreened	-	4335_1:159824677-159824677 C>G_KYAPPPCGGPEDLALAPCTAAAACE
15:83215973-83215973 T>C	0.0	4335	COLON	-	-	-	-	CPEB1	ENST00000398591,p.T402A|uc002biv.3,p.T472A|uc002biq.3,p.T397A|uc002bit.3,p.T537A|NM_001079533,p.T402A|ENST00000563800,p.T499A|NM_001288819,p.T397A|uc002bir.3,p.T402A|uc002biu.3,p.T499A|ENST00000423133,p.T397A|ENST00000450751,p.T397A|NM_001079535,p.T397A|ENST00000562019,p.T477A|uc010uoe.2,p.T475A|NM_001079534,p.T397A|ENST00000564522,p.T397A|ENST00000568128,p.T472A|ENST00000261723,p.T475A|ENST00000398592,p.T246A|uc002bip.3,p.T246A|uc010uod.2,p.T246A|ENST00000568757,p.T397A|NM_001288820,p.T246A|uc010uof.2,p.T397A|NM_030594,p.T472A|uc002bis.3,p.T397A	retained_intron, nonsense_mediated_decay, processed_transcript, protein_coding	uc010uof.2	nonsynonymous SNV	exon10	c.A1189G	p.T397A	DKHKYPIGSGRVTFNNQRSYLKAVS	DKHKYPIGSGRVAFNNQRSYLKAVS	4.0	7.0	unscreened	-	4335_15:83215973-83215973 T>C_DKHKYPIGSGRVAFNNQRSYLKAVS
1:43738580-43738580 T>G	0.0	4335	COLON	-	-	-	-	TMEM125	uc021omm.1,p.S63A|NM_144626,p.S63A|ENST00000432792,p.S63A|uc001cir.3,p.S63A|uc021oml.1,p.S63A|ENST00000439858,p.S63A	protein_coding, processed_transcript	uc021omm.1	nonsynonymous SNV	exon1	c.T187G	p.S63A	GGVALLSTTSSRSGEWRLATGTVLC	GGVALLSTTSSRAGEWRLATGTVLC	5.0	6.0	-	-	4335_1:43738580-43738580 T>G_GGVALLSTTSSRAGEWRLATGTVLC
8:3889520-3889520 G>T	0.0	4335	COLON	-	-	-	-	CSMD1	NM_033225,p.P173T|ENST00000520002,p.P173T|uc022aqr.1,p.P173T|ENST00000602557,p.P173T|ENST00000537824,p.P173T|ENST00000602723,p.P173T|ENST00000539096,p.P173T|ENST00000542608,p.P173T|ENST00000400186,p.P173T	retained_intron, protein_coding, processed_transcript	uc022aqr.1	nonsynonymous SNV	exon4	c.C517A	p.P173T	FNIGDKIRYSCLPGYILEGHAILTC	FNIGDKIRYSCLTGYILEGHAILTC	3.0	5.0	unscreened	-	4335_8:3889520-3889520 G>T_FNIGDKIRYSCLTGYILEGHAILTC
3:28533629-28533629 A>C	0.0	4335	COLON	-	-	-	-	ZCWPW2	uc003cei.3,p.T208P|uc010hfo.3,p.T13P|NM_001040432,p.T208P|uc003ceh.3,p.T208P|ENST00000421010,p.T208P|ENST00000383768,p.T208P	protein_coding	uc010hfo.3	nonsynonymous SNV	exon4	c.A37C	p.T13P	MCCLSKLQDKSETHDKVAALVKKRK	MCCLSKLQDKSEPHDKVAALVKKRK	2.0	7.0	unscreened	-	4335_3:28533629-28533629 A>C_MCCLSKLQDKSEPHDKVAALVKKRK
5:38958823-38958823 G>C	0.0	4335	COLON	-	-	-	-	RICTOR	uc010ivf.2,p.N478K|ENST00000357387,p.N763K|ENST00000296782,p.N763K|uc003jlp.2,p.N763K|NM_001285439,p.N763K|NM_152756,p.N763K|uc003jlo.2,p.N763K|NM_001285440,p.N478K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ivf.2	nonsynonymous SNV	exon23	c.C1434G	p.N478K	GIELLVTQLHDKNKTISSEALDILD	GIELLVTQLHDKKKTISSEALDILD	9.0	5.0	-	-	4335_5:38958823-38958823 G>C_GIELLVTQLHDKKKTISSEALDILD
8:121500491-121500491 T>C	0.0	4335	COLON	-	-	-	-	MTBP	ENST00000305949,p.S420P|uc003ypc.2,p.S420P|NM_022045,p.S420P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003ypc.2	nonsynonymous SNV	exon12	c.T1258C	p.S420P	NGNRRCKATLIHSANQINGSFALNL	NGNRRCKATLIHPANQINGSFALNL	5.0	4.0	-	-	4335_8:121500491-121500491 T>C_NGNRRCKATLIHPANQINGSFALNL
10:118618523-118618523 C>G	0.0	4335	COLON	0.0005	-	-	-	ENO4	uc021pzj.1,p.Q170E|NM_001242699,p.Q170E|ENST00000341276,p.Q171E	protein_coding	uc021pzj.1	nonsynonymous SNV	exon4	c.C508G	p.Q170E	DHLLRIFFASKVQEDKGRKELEKSL	DHLLRIFFASKVEEDKGRKELEKSL	3.0	8.0	unscreened	-	4335_10:118618523-118618523 C>G_DHLLRIFFASKVEEDKGRKELEKSL
7:43532760-43532760 G>C	0.0	4335	COLON	-	-	-	-	HECW1	ENST00000453890,p.A1106P|uc003tid.1,p.A1140P|NM_015052,p.A1140P|NM_001287059,p.A1106P|uc011kbi.1,p.A1106P|ENST00000395891,p.A1140P	protein_coding, processed_transcript	uc011kbi.1	nonsynonymous SNV	exon17	c.G3316C	p.A1106P	IFEMLQERQPSLARNHTLREKIHYI	IFEMLQERQPSLPRNHTLREKIHYI	4.0	5.0	unscreened	-	4335_7:43532760-43532760 G>C_IFEMLQERQPSLPRNHTLREKIHYI
19:40899992-40899992 T>C	0.0	4335	COLON	-	-	-	-	PRX	uc002onq.3,p.S1284G|uc002onr.3,p.S1423G|NM_181882,p.S1423G|ENST00000324001,p.S1423G	protein_coding, processed_transcript	uc002onr.3	nonsynonymous SNV	exon7	c.A4267G	p.S1423G	RFPRVSLSPKARSGSGDQEEGGLRV	RFPRVSLSPKARGGSGDQEEGGLRV	8.0	7.0	-	-	4335_19:40899992-40899992 T>C_RFPRVSLSPKARGGSGDQEEGGLRV
16:3778236-3778236 A>T	1.0	4335	COLON	-	-	-	1	CREBBP	uc002cvw.3,p.L2233H|NM_004380,p.L2271H|uc002cvv.3,p.L2271H|NM_001079846,p.L2233H|ENST00000382070,p.L2233H|ENST00000262367,p.L2271H	retained_intron, protein_coding	uc002cvw.3	nonsynonymous SNV	exon30	c.T6698A	p.L2233H	SSMGQMAAQMGQLGQMGQPGLGADS	SSMGQMAAQMGQHGQMGQPGLGADS	10.0	5.0	-	-	4335_16:3778236-3778236 A>T_SSMGQMAAQMGQHGQMGQPGLGADS
1:63790159-63790159 C>T	0.0	4335	COLON	-	-	-	-	FOXD3	ENST00000371116,p.A477V|NM_012183,p.A477V|uc001dax.2,p.A477V	protein_coding	uc001dax.2	nonsynonymous SNV	exon1	c.C1430T	p.A477V	AAAAAAAQAKWPAQ	AAAAAAAQAKWPVQ	1.0	7.0	unscreened	-	4335_1:63790159-63790159 C>T_AAAAAAAQAKWPVQ
1:228003799-228003799 C>T	0.0	4335	COLON	-	-	-	-	PRSS38	uc001hrh.3,p.R53W|NM_183062,p.R53W|ENST00000366757,p.R53W	protein_coding	uc001hrh.3	nonsynonymous SNV	exon2	c.C157T	p.R53W	QGISLTGSVACGRPSMEGKILGGVP	QGISLTGSVACGWPSMEGKILGGVP	2.0	4.0	unscreened	-	4335_1:228003799-228003799 C>T_QGISLTGSVACGWPSMEGKILGGVP
5:7709483-7709483 G>C	0.0	4335	COLON	-	-	-	-	ADCY2	uc003jdz.1,p.G521R|ENST00000338316,p.G521R|NM_020546,p.G521R|uc011cmo.1,p.G341R|ENST00000537121,p.G341R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cmo.1	nonsynonymous SNV	exon7	c.G1021C	p.G341R	HLHHRDSMTTENGKISTTDVPMGQH	HLHHRDSMTTENRKISTTDVPMGQH	4.0	7.0	unscreened	-	4335_5:7709483-7709483 G>C_HLHHRDSMTTENRKISTTDVPMGQH
10:115389528-115389528 C>G	0.0	4335	COLON	-	-	-	-	NRAP	uc001lal.4,p.G620A|uc001laj.4,p.G620A|NM_198060,p.G620A|NM_001261463,p.G620A|uc001lak.4,p.G585A|ENST00000369360,p.G593A|ENST00000369358,p.G628A|ENST00000360478,p.G585A|NM_006175,p.G585A|ENST00000359988,p.G620A	protein_coding	uc001lal.4	nonsynonymous SNV	exon19	c.G1859C	p.G620A	IAKMSSEVEYKKGFEESKTRFHLPM	IAKMSSEVEYKKAFEESKTRFHLPM	2.0	7.0	unscreened	-	4335_10:115389528-115389528 C>G_IAKMSSEVEYKKAFEESKTRFHLPM
2:86481823-86481823 T>G	0.0	4335	COLON	-	-	-	-	REEP1	NM_022912,p.K99N|uc021vke.1,p.K106N|ENST00000165698,p.K99N|uc010yth.2,p.K72N|NM_001164731,p.K72N|uc010ytg.2,p.K78N|ENST00000538924,p.K106N|ENST00000535845,p.K72N|uc002srh.4,p.K99N|NM_001164730,p.K106N|ENST00000428491,p.K72N|ENST00000540790,p.K78N|ENST00000453231,p.K106N	retained_intron, protein_coding, processed_transcript	uc021vke.1	nonsynonymous SNV	exon4	c.A318C	p.K106N	LYRKFVHPTLSSKEKEIDDCLVQAK	LYRKFVHPTLSSNEKEIDDCLVQAK	5.0	7.0	unscreened	-	4335_2:86481823-86481823 T>G_LYRKFVHPTLSSNEKEIDDCLVQAK
3:111603733-111603733 T>C	0.0	4335	COLON	-	-	-	-	PHLDB2	uc003dye.4,p.L270P|ENST00000478922,p.L270P|uc003dyd.3,p.L270P|uc003dyh.3,p.L270P|NM_001134437,p.L297P|ENST00000498699,p.L270P|uc003dyc.3,p.L297P|ENST00000477695,p.L270P|NM_001134438,p.L270P|ENST00000481953,p.L270P|uc003dyf.4,p.L270P|uc003dyg.3,p.L270P|ENST00000431670,p.L270P|NM_001134439,p.L270P|ENST00000412622,p.L270P|ENST00000393923,p.L297P|NM_145753,p.L270P|uc010hqa.3,p.L270P|ENST00000393925,p.L270P	retained_intron, protein_coding, processed_transcript	uc010hqa.3	nonsynonymous SNV	exon2	c.T809C	p.L270P	RLYRATENQLTPLSLPPRNSLGNSK	RLYRATENQLTPPSLPPRNSLGNSK	6.0	6.0	-	-	4335_3:111603733-111603733 T>C_RLYRATENQLTPPSLPPRNSLGNSK
2:133540329-133540329 A>C	0.0	4335	COLON	-	-	-	-	NCKAP5	ENST00000317721,p.L1352R|ENST00000409261,p.L1352R|NM_207363,p.L1352R|uc002ttp.3,p.L1352R	protein_coding, processed_transcript	uc002ttp.3	nonsynonymous SNV	exon14	c.T4055G	p.L1352R	RPSGHPSSGKGSLGSSGSFSSQHGS	RPSGHPSSGKGSRGSSGSFSSQHGS	7.0	7.0	-	-	4335_2:133540329-133540329 A>C_RPSGHPSSGKGSRGSSGSFSSQHGS
1:23418880-23418880 T>G	0.0	4335	COLON	-	-	-	-	LUZP1	ENST00000418342,p.E625D|uc001bgm.1,p.E625D|ENST00000302291,p.E625D|ENST00000374623,p.E625D|uc010odv.1,p.E625D|NM_001142546,p.E625D|uc001bgk.2,p.E625D|ENST00000314174,p.E625D|NM_033631,p.E625D|uc001bgl.3,p.E625D	protein_coding	uc010odv.1	nonsynonymous SNV	exon3	c.A1875C	p.E625D	ENILQGFSTSHKEGVNQPAAVVMED	ENILQGFSTSHKDGVNQPAAVVMED	6.0	6.0	-	-	4335_1:23418880-23418880 T>G_ENILQGFSTSHKDGVNQPAAVVMED
5:98115386-98115386 A>G	0.0	4335	COLON	-	-	-	-	RGMB	ENST00000308234,p.E121G|ENST00000513185,p.E80G|uc003knb.2,p.E121G|uc003knc.3,p.E121G|NM_001012761,p.E121G	retained_intron, protein_coding, processed_transcript	uc003knc.3	nonsynonymous SNV	exon4	c.A362G	p.E121G	SHLNSAVDGFDSEFCKALRAYAGCT	SHLNSAVDGFDSGFCKALRAYAGCT	5.0	6.0	unscreened	-	4335_5:98115386-98115386 A>G_SHLNSAVDGFDSGFCKALRAYAGCT
1:109380218-109380218 A>C	0.0	4335	COLON	-	-	-	-	AKNAD1	ENST00000370001,p.V497G|uc001dwa.4,p.V497G|ENST00000474186,p.V497G|ENST00000369995,p.V497G|uc010ovb.3,p.V204G|ENST00000357393,p.V204G|NM_152763,p.V497G|ENST00000369994,p.V497G|ENST00000461774,p.V497G	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ovb.3	nonsynonymous SNV	exon6	c.T611G	p.V204G	YTSAPSLPVSSPVTLDDLASTFSSL	YTSAPSLPVSSPGTLDDLASTFSSL	3.0	4.0	unscreened	-	4335_1:109380218-109380218 A>C_YTSAPSLPVSSPGTLDDLASTFSSL
1:248616783-248616783 A>G	0.0	4335	COLON	-	-	-	-	OR2T2	uc001iek.1,p.M229V|NM_001004136,p.M229V|ENST00000342927,p.M229V	protein_coding	uc001iek.1	nonsynonymous SNV	exon1	c.A685G	p.M229V	VSYTHILLTVHRMNSAEGRRKAFAT	VSYTHILLTVHRVNSAEGRRKAFAT	3.0	2.0	unscreened	-	4335_1:248616783-248616783 A>G_VSYTHILLTVHRVNSAEGRRKAFAT
10:25464945-25464945 G>T	0.0	4335	COLON	-	-	-	-	GPR158	uc010qde.1,p.L3I	protein_coding, processed_transcript	uc010qde.1	nonsynonymous SNV	exon1	c.C7A	p.L3I	MRLSSRVAWRKTCGA	MRISSRVAWRKTCGA	3.0	5.0	unscreened	-	4335_10:25464945-25464945 G>T_MRISSRVAWRKTCGA
1:146398351-146398351 T>G	1.0	4335	COLON	-	-	-	-	NBPF12	NM_001278141,p.L113V|uc031poi.1,p.L113V|ENST00000309471,p.L38V|ENST00000446760,p.L113V|ENST00000442909,p.L113V	protein_coding	uc031poi.1	nonsynonymous SNV	exon9	c.T337G	p.L113V	SQERELTQLREKLREGRDASRSLNE	SQERELTQLREKVREGRDASRSLNE	10.0	3.0	-	-	4335_1:146398351-146398351 T>G_SQERELTQLREKVREGRDASRSLNE
10:125506356-125506356 T>C	0.0	4335	COLON	-	-	-	-	CPXM2	ENST00000241305,p.K732R|uc001lhk.1,p.K732R|NM_198148,p.K732R	protein_coding, processed_transcript	uc001lhk.1	nonsynonymous SNV	exon14	c.A2195G	p.K732R	KTNMARIREIMEKFGKQPVSLPARR	KTNMARIREIMERFGKQPVSLPARR	5.0	2.0	unscreened	-	4335_10:125506356-125506356 T>C_KTNMARIREIMERFGKQPVSLPARR
1:115151419-115151419 A>C	0.0	4335	COLON	-	-	ID=COSM1667837;OCCURENCE=1(large_intestine)	-	DENND2C	NM_001256404,p.L482R|uc001efd.1,p.L482R|ENST00000393276,p.L425R|NM_198459,p.L425R|ENST00000393277,p.L482R|ENST00000393274,p.L482R|uc001efc.1,p.L425R	protein_coding, processed_transcript	uc001efd.1	nonsynonymous SNV	exon10	c.T1445G	p.L482R	KRNPHYQTLERDLIELQEQQLFELF	KRNPHYQTLERDRIELQEQQLFELF	4.0	5.0	unscreened	-	4335_1:115151419-115151419 A>C_KRNPHYQTLERDRIELQEQQLFELF
3:113378060-113378060 T>G	0.0	4335	COLON	-	-	-	-	KIAA2018	NM_001009899,p.L823F|uc003eam.3,p.L823F|ENST00000316407,p.L823F|uc003eal.3,p.L767F|ENST00000478658,p.L823F	retained_intron, protein_coding	uc003eam.3	nonsynonymous SNV	exon7	c.A2469C	p.L823F	ACPLNSVRDVSKLDCPNTEGSAEPP	ACPLNSVRDVSKFDCPNTEGSAEPP	7.0	7.0	-	-	4335_3:113378060-113378060 T>G_ACPLNSVRDVSKFDCPNTEGSAEPP
1:203134562-203134562 A>G	0.0	4335	COLON	-	-	-	-	ADORA1	uc010pqh.1,p.E205G|NM_000674,p.E172G|uc001gze.1,p.E172G|NM_001048230,p.E172G|uc010pqg.1,p.E104G|ENST00000337894,p.E172G|uc001gzf.1,p.E172G|ENST00000309502,p.E172G|ENST00000367236,p.E172G	protein_coding, processed_transcript	uc010pqh.1	nonsynonymous SNV	exon3	c.A614G	p.E205G	GSMGEPVIKCEFEKVISMEYMVYFN	GSMGEPVIKCEFGKVISMEYMVYFN	3.0	5.0	unscreened	-	4335_1:203134562-203134562 A>G_GSMGEPVIKCEFGKVISMEYMVYFN
16:68010050-68010050 C>A	0.0	4335	COLON	-	-	-	-	DPEP3	NM_022357,p.E417D|ENST00000268793,p.E417D|NM_001129758,p.E416D|uc010cex.3,p.E416D|uc002evc.4,p.E417D	protein_coding, processed_transcript	uc010cex.3	nonsynonymous SNV	exon9	c.G1248T	p.E416D	IEELLSRSWSEEELQGVLRGNLLRV	IEELLSRSWSEEDLQGVLRGNLLRV	4.0	6.0	unscreened	-	4335_16:68010050-68010050 C>A_IEELLSRSWSEEDLQGVLRGNLLRV
11:44080183-44080183 T>A	0.0	4335	COLON	-	-	-	-	ACCSL	ENST00000378832,p.Y520N|uc009ykr.2,p.Y339N|NM_001031854,p.Y520N|uc001mxw.1,p.Y520N	protein_coding, nonsense_mediated_decay	uc009ykr.2	nonsynonymous SNV	exon13	c.T1015A	p.Y339N	LDNKLLLSRGKTYMCKEPGWFCLIF	LDNKLLLSRGKTNMCKEPGWFCLIF	1.0	6.0	unscreened	Nonsynonymous snp within 36 nucleotides, 11:44080210-44080210 T>C, residue 22 C>R PR	4335_11:44080183-44080183 T>A_LDNKLLLSRGKTNMCKEPGWFCLIF
6:43273715-43273715 G>T	0.0	4335	COLON	-	-	-	-	CRIP3	uc010jyn.2,p.P215T|ENST00000274990,p.P215T	retained_intron, protein_coding	uc010jyn.2	nonsynonymous SNV	exon7	c.C643A	p.P215T	HVHGLWVCVDNFPCG	HVHGLWVCVDNFTCG	1.0	3.0	unscreened	-	4335_6:43273715-43273715 G>T_HVHGLWVCVDNFTCG
9:71836334-71836334 T>C	1.0	4335	COLON	-	-	-	-	TJP2	ENST00000453658,p.S269P|NM_004817,p.S292P|NM_001170415,p.S296P|ENST00000377245,p.S292P|NM_001170414,p.S269P|uc004ahd.3,p.S292P|uc011lrv.2,p.S323P|uc011lrs.2,p.S269P|uc004ahf.3,p.S292P|NM_001170416,p.S323P|uc004ahb.1,p.S269P|uc011lrt.1,p.S269P|ENST00000539225,p.S323P|ENST00000535702,p.S296P|NM_201629,p.S292P|uc004ahe.3,p.S292P|ENST00000348208,p.S292P|NM_001170630,p.S292P|uc011lru.2,p.S296P|ENST00000265384,p.S292P	protein_coding, processed_transcript	uc011lrv.2	nonsynonymous SNV	exon5	c.T967C	p.S323P	RGPRSRSREHPHSRSPSPEPRGRPG	RGPRSRSREHPHPRSPSPEPRGRPG	9.0	3.0	-	-	4335_9:71836334-71836334 T>C_RGPRSRSREHPHPRSPSPEPRGRPG
7:63726958-63726958 G>T	0.0	4335	COLON	-	-	ID=COSM1091168;OCCURENCE=1(endometrium),1(large_intestine)	-	ZNF679	ENST00000255746,p.R316I|NM_153363,p.R316I|ENST00000421025,p.R316I|uc003tsx.3,p.R316I	protein_coding	uc003tsx.3	nonsynonymous SNV	exon5	c.G947T	p.R316I	AFSLSSSLTYHKRIHTGEKPYTCEE	AFSLSSSLTYHKIIHTGEKPYTCEE	4.0	5.0	unscreened	-	4335_7:63726958-63726958 G>T_AFSLSSSLTYHKIIHTGEKPYTCEE
15:85165899-85165899 T>A	0.0	4335	COLON	-	-	-	-	ZSCAN2	ENST00000538076,p.L223H|uc010uoz.1,p.L222H	protein_coding, processed_transcript, nonsense_mediated_decay	uc010uoz.1	nonsynonymous SNV	exon3	c.T665A	p.L222H	PFYFQKVSGAQKLEEVQPGASVPVS	PFYFQKVSGAQKHEEVQPGASVPVS	5.0	6.0	unscreened	-	4335_15:85165899-85165899 T>A_PFYFQKVSGAQKHEEVQPGASVPVS
14:21058576-21058576 A>C	0.0	4335	COLON	-	-	-	-	RNASE12	NM_001024822,p.F103V|uc001vxt.3,p.F103V|ENST00000556526,p.F103V	protein_coding	uc001vxt.3	nonsynonymous SNV	exon1	c.T307G	p.F103V	LSAIFCFQSETKFKMTVCQLIEGTR	LSAIFCFQSETKVKMTVCQLIEGTR	1.0	1.0	unscreened	-	4335_14:21058576-21058576 A>C_LSAIFCFQSETKVKMTVCQLIEGTR
4:109822279-109822279 G>A	0.0	4335	COLON	-	-	-	-	COL25A1	uc021xqo.1,p.P277L|ENST00000399132,p.P277L|ENST00000399126,p.P277L|uc021xqp.2,p.P277L|ENST00000399127,p.P273L|NM_198721,p.P277L|NM_032518,p.P277L|uc003hzg.4,p.P277L|uc003hzh.2,p.P273L|ENST00000494183,p.P205L|uc003hze.2,p.P277L|uc003hzf.4,p.P273L|NM_001256074,p.P273L	retained_intron, protein_coding, nonsense_mediated_decay	uc021xqp.2	nonsynonymous SNV	exon13	c.C830T	p.P277L	LPGAVGQNGIPGPKGEPGEQGEKGD	LPGAVGQNGIPGLKGEPGEQGEKGD	1.0	6.0	unscreened	-	4335_4:109822279-109822279 G>A_LPGAVGQNGIPGLKGEPGEQGEKGD
7:148802451-148802451 C>T	0.0	4335	COLON	-	-	-	-	ZNF425	uc003wfj.3,p.R171Q|ENST00000378061,p.R171Q|NM_001001661,p.R171Q	retained_intron, protein_coding, processed_transcript	uc003wfj.3	nonsynonymous SNV	exon4	c.G512A	p.R171Q	SITAYDPDKKDLRHKPRETPGRLEI	SITAYDPDKKDLQHKPRETPGRLEI	1.0	6.0	unscreened	-	4335_7:148802451-148802451 C>T_SITAYDPDKKDLQHKPRETPGRLEI
19:9072812-9072812 T>G	0.0	4335	COLON	-	-	-	2	MUC16	uc002mkp.3,p.K4878N|NM_024690,p.K4878N|ENST00000397910,p.K4878N	protein_coding, processed_transcript, nonsense_mediated_decay	uc002mkp.3	nonsynonymous SNV	exon3	c.A14634C	p.K4878N	TMEDTTISRSIPKSSKTTRTETETT	TMEDTTISRSIPNSSKTTRTETETT	9.0	6.0	-	-	4335_19:9072812-9072812 T>G_TMEDTTISRSIPNSSKTTRTETETT
14:24542756-24542756 C>A	0.0	4335	COLON	-	-	-	-	CPNE6	ENST00000558795,p.P61Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000558795	nonsynonymous SNV	exon3	c.C182A	p.P61Q	YSDEQWVEPCLLPGAGP	YSDEQWVEPCLLQGAGP	2.0	6.0	unscreened	-	4335_14:24542756-24542756 C>A_YSDEQWVEPCLLQGAGP
1:152193409-152193409 A>C	0.0	4335	COLON	-	-	-	-	HRNR	uc001ezt.2,p.S232R|NM_001009931,p.S232R|ENST00000368801,p.S232R	protein_coding	uc001ezt.2	nonsynonymous SNV	exon3	c.T696G	p.S232R	THGSGSGQSSGFSQHKSSSGQSSGY	THGSGSGQSSGFRQHKSSSGQSSGY	1.0	5.0	unscreened	-	4335_1:152193409-152193409 A>C_THGSGSGQSSGFRQHKSSSGQSSGY
20:6022797-6022797 T>C	0.0	4335	COLON	-	-	-	-	LRRN4	ENST00000378858,p.D365G|uc002wmo.3,p.D365G|NM_152611,p.D365G	protein_coding	uc002wmo.3	nonsynonymous SNV	exon5	c.A1094G	p.D365G	LSLSQLPGVCQSDQSTTLGASHPPC	LSLSQLPGVCQSGQSTTLGASHPPC	5.0	5.0	-	-	4335_20:6022797-6022797 T>C_LSLSQLPGVCQSGQSTTLGASHPPC
12:271161-271161 A>C	0.0	4335	COLON	-	-	-	-	IQSEC3	ENST00000538872,p.E838A|ENST00000382841,p.E535A|NM_015232,p.E535A|uc001qhu.1,p.E535A|ENST00000326261,p.E838A|uc001qhw.2,p.E838A|NM_001170738,p.E838A	retained_intron, protein_coding, processed_transcript	uc001qhw.2	nonsynonymous SNV	exon8	c.A2513C	p.E838A	LVVGIYERIQQKELKSNEDHVTYVT	LVVGIYERIQQKALKSNEDHVTYVT	4.0	5.0	unscreened	-	4335_12:271161-271161 A>C_LVVGIYERIQQKALKSNEDHVTYVT
2:25040566-25040566 A>G	0.0	4335	COLON	-	-	ID=COSM477206;OCCURENCE=1(kidney)	-	CENPO	uc002rfq.2,p.E265G|ENST00000380834,p.E265G|NM_024322,p.E265G|ENST00000473706,p.E259G|ENST00000260662,p.E265G|uc002rfp.2,p.E259G|NM_001199803,p.E259G	retained_intron, protein_coding, processed_transcript	uc002rfq.2	nonsynonymous SNV	exon7	c.A794G	p.E265G	TCQGVEVLSTSWEEQRASHETLFCT	TCQGVEVLSTSWGEQRASHETLFCT	5.0	6.0	-	-	4335_2:25040566-25040566 A>G_TCQGVEVLSTSWGEQRASHETLFCT
19:50099778-50099778 A>C	0.0	4335	COLON	-	-	-	-	PRR12	uc002poo.4,p.K729T|NM_020719,p.K729T|ENST00000418929,p.K729T	retained_intron, protein_coding	uc002poo.4	nonsynonymous SNV	exon4	c.A2186C	p.K729T	ALELGLGRLKEKKKGPERGGETPEG	ALELGLGRLKEKTKGPERGGETPEG	7.0	6.0	-	-	4335_19:50099778-50099778 A>C_ALELGLGRLKEKTKGPERGGETPEG
20:10256162-10256162 G>T	0.0	4335	COLON	-	-	-	-	SNAP25	NM_130811,p.R8L|ENST00000254976,p.R8L|uc010gca.2,p.R8L|uc002wnq.2,p.R8L|ENST00000304886,p.R8L|ENST00000430336,p.R8L|uc002wnr.2,p.R8L|NM_003081,p.R8L	protein_coding, processed_transcript	uc010gca.2	nonsynonymous SNV	exon4	c.G23T	p.R8L	MAEDADMRNELEEMQRRADQ	MAEDADMLNELEEMQRRADQ	2.0	6.0	unscreened	-	4335_20:10256162-10256162 G>T_MAEDADMLNELEEMQRRADQ
5:43246023-43246023 A>G	0.0	4335	COLON	-	-	-	-	NIM1K	ENST00000326035,p.E49G|NM_153361,p.E49G|uc003jno.4,p.E49G|uc031sjg.1,p.E49G|ENST00000512796,p.E49G	protein_coding, processed_transcript	uc031sjg.1	nonsynonymous SNV	exon2	c.A146G	p.E49G	GEEGQPRQLTPFEKLTQDMSQDEKV	GEEGQPRQLTPFGKLTQDMSQDEKV	2.0	6.0	unscreened	-	4335_5:43246023-43246023 A>G_GEEGQPRQLTPFGKLTQDMSQDEKV
5:74400799-74400799 A>G	0.0	4335	COLON	-	-	-	-	ANKRD31	ENST00000274361,p.S1472P|NM_001164443,p.S1472P|uc003kdo.2,p.S1472P	protein_coding, processed_transcript	uc003kdo.2	nonsynonymous SNV	exon21	c.T4414C	p.S1472P	ELTSLENLEHPQSGSLSPVSGSMQE	ELTSLENLEHPQPGSLSPVSGSMQE	4.0	5.0	unscreened	-	4335_5:74400799-74400799 A>G_ELTSLENLEHPQPGSLSPVSGSMQE
1:231473382-231473382 C>T	0.0	4335	COLON	-	-	-	-	EXOC8	uc001huq.3,p.G37E|ENST00000360394,p.G37E|NM_175876,p.G37E|ENST00000366645,p.G33E	protein_coding	uc001huq.3	nonsynonymous SNV	exon1	c.G110A	p.G37E	RLYVKQLSQQSDGDRDLQEHRQRIQ	RLYVKQLSQQSDEDRDLQEHRQRIQ	5.0	6.0	unscreened	-	4335_1:231473382-231473382 C>T_RLYVKQLSQQSDEDRDLQEHRQRIQ
4:54930446-54930446 A>C	1.0	4335	COLON	-	-	-	2	CHIC2	uc003haj.2,p.Y8D|ENST00000512964,p.Y8D|NM_012110,p.Y8D|ENST00000263921,p.Y8D	retained_intron, protein_coding	uc003haj.2	nonsynonymous SNV	exon1	c.T22G	p.Y8D	MADFDEIYEEEEDEERALEE	MADFDEIDEEEEDEERALEE	7.0	6.0	-	-	4335_4:54930446-54930446 A>C_MADFDEIDEEEEDEERALEE
11:124180410-124180410 A>C	0.0	4335	COLON	-	-	ID=COSM1352262;OCCURENCE=1(large_intestine)	-	OR8D1	uc010sag.2,p.F85V|ENST00000357821,p.F85V|NM_001002917,p.F85V	protein_coding	uc010sag.2	nonsynonymous SNV	exon1	c.T253G	p.F85V	YSSVITPKMLVNFLGKKNTILYSEC	YSSVITPKMLVNVLGKKNTILYSEC	1.0	1.0	unscreened	-	4335_11:124180410-124180410 A>C_YSSVITPKMLVNVLGKKNTILYSEC
4:144619776-144619776 G>C	0.0	4335	COLON	-	-	-	-	FREM3	uc021xsj.1,p.L685V|ENST00000329798,p.L685V|NM_001168235,p.L685V	protein_coding, processed_transcript	uc021xsj.1	nonsynonymous SNV	exon1	c.C2053G	p.L685V	AFHVQDDHDPPNLSKQHIFTIKVQP	AFHVQDDHDPPNVSKQHIFTIKVQP	4.0	1.0	unscreened	-	4335_4:144619776-144619776 G>C_AFHVQDDHDPPNVSKQHIFTIKVQP
17:19582048-19582048 G>T	0.0	4335	COLON	-	-	-	-	SLC47A2	NM_001256663,p.A565D|uc002gwe.4,p.A587D|NM_001099646,p.A551D|ENST00000350657,p.A565D|NM_152908,p.A587D|ENST00000325411,p.A587D|uc002gwg.4,p.A551D|uc002gwf.4,p.A565D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gwg.4	nonsynonymous SNV	exon17	c.C1652A	p.A551D	VIRRGAALGAASATLMVGLTVRILA	VIRRGAALGAASDTLMVGLTVRILA	2.0	1.0	unscreened	-	4335_17:19582048-19582048 G>T_VIRRGAALGAASDTLMVGLTVRILA
7:6737032-6737032 T>G	0.0	4335	COLON	-	-	-	-	ZNF12	ENST00000394917,p.S58R	protein_coding, processed_transcript	ENST00000394917	nonsynonymous SNV	exon4	c.A172C	p.S58R	SGITLSNRMLSASWSKEKSHG	SGITLSNRMLSARWSKEKSHG	7.0	2.0	unscreened	-	4335_7:6737032-6737032 T>G_SGITLSNRMLSARWSKEKSHG
7:113520018-113520018 T>G	0.0	4335	COLON	-	-	ID=COSM1262859;OCCURENCE=1(oesophagus)	-	PPP1R3A	NM_002711,p.S377R|uc010ljy.1,p.S377R|ENST00000449795,p.S56R|ENST00000284601,p.S377R	protein_coding, nonsense_mediated_decay	uc010ljy.1	nonsynonymous SNV	exon4	c.A1129C	p.S377R	ICTDLFQRSLSPSSSAESSVKGDFY	ICTDLFQRSLSPRSSAESSVKGDFY	1.0	3.0	unscreened	-	4335_7:113520018-113520018 T>G_ICTDLFQRSLSPRSSAESSVKGDFY
5:74400810-74400810 T>C	0.0	4335	COLON	-	-	-	-	ANKRD31	NM_001164443,p.E1468G|uc003kdo.2,p.E1468G|ENST00000274361,p.E1468G	protein_coding, processed_transcript	uc003kdo.2	nonsynonymous SNV	exon21	c.A4403G	p.E1468G	KDSQELTSLENLEHPQSGSLSPVSG	KDSQELTSLENLGHPQSGSLSPVSG	4.0	5.0	unscreened	-	4335_5:74400810-74400810 T>C_KDSQELTSLENLGHPQSGSLSPVSG
6:152697659-152697659 T>C	0.0	4335	COLON	-	-	-	-	SYNE1	NM_033071,p.K3068E|uc003qot.4,p.K3068E|ENST00000265368,p.K3061E|ENST00000367255,p.K3061E|ENST00000448038,p.K3068E|ENST00000423061,p.K3068E|NM_182961,p.K3061E|uc003qov.3,p.K139E|ENST00000341594,p.K3100E|uc003qou.4,p.K3061E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003qov.3	nonsynonymous SNV	exon3	c.A415G	p.K139E	CLCLQASKGCQNKEQILQQRFRKAF	CLCLQASKGCQNEEQILQQRFRKAF	9.0	1.0	-	-	4335_6:152697659-152697659 T>C_CLCLQASKGCQNEEQILQQRFRKAF
20:49509002-49509002 A>C	1.0	4335	COLON	-	-	-	-	ADNP	ENST00000396032,p.V750G|ENST00000349014,p.V750G|NM_015339,p.V750G|ENST00000396029,p.V750G|ENST00000371602,p.V750G|uc002xvt.1,p.V750G|NM_001282531,p.V750G|NM_181442,p.V750G|uc002xvu.1,p.V750G|NM_001282532,p.V750G	protein_coding	uc002xvu.1	nonsynonymous SNV	exon4	c.T2249G	p.V750G	SPSFFEEKPEEPVVLALDPKGHEDD	SPSFFEEKPEEPGVLALDPKGHEDD	7.0	4.0	-	-	4335_20:49509002-49509002 A>C_SPSFFEEKPEEPGVLALDPKGHEDD
13:36382440-36382440 T>C	0.0	4335	COLON	-	-	-	-	DCLK1	uc001uvf.3,p.E595G|ENST00000360631,p.E595G|ENST00000255448,p.E595G|uc001uve.4,p.E288G|NM_001195415,p.E288G|ENST00000379893,p.E288G|NM_001195416,p.E288G|NM_004734,p.E595G|uc010teh.2,p.E288G|uc010abk.3,p.E115G	protein_coding, processed_transcript	uc010teh.2	nonsynonymous SNV	exon10	c.A863G	p.E288G	GFPPFRGSGDDQEVLFDQILMGQVD	GFPPFRGSGDDQGVLFDQILMGQVD	5.0	2.0	unscreened	-	4335_13:36382440-36382440 T>C_GFPPFRGSGDDQGVLFDQILMGQVD
4:175898346-175898346 A>C	0.0	4335	COLON	-	-	-	-	ADAM29	uc031shv.1,p.E557A|uc031shw.1,p.E557A|ENST00000445694,p.E557A|ENST00000359240,p.E557A|NM_001130705,p.E557A|uc003iud.3,p.E557A|ENST00000404450,p.E557A|uc031shu.1,p.E557A|NM_001278127,p.E557A|NM_014269,p.E557A|NM_001130704,p.E557A|uc021xuo.1,p.E557A|uc011cki.2,p.E557A|NM_001130703,p.E557A|uc003iuc.3,p.E557A|NM_001278125,p.E557A|NM_001278126,p.E557A|ENST00000514159,p.E557A|uc010irr.3,p.E557A	retained_intron, protein_coding, processed_transcript	uc031shw.1	nonsynonymous SNV	exon2	c.A1670C	p.E557A	NISDVQCGRIQCENVTEIPNMSDHT	NISDVQCGRIQCANVTEIPNMSDHT	1.0	2.0	unscreened	-	4335_4:175898346-175898346 A>C_NISDVQCGRIQCANVTEIPNMSDHT
11:5536814-5536814 T>G	0.0	4335	COLON	-	-	-	-	UBQLNL	ENST00000380184,p.Q286H|uc001maz.4,p.Q286H|NM_145053,p.Q286H	protein_coding	uc001maz.4	nonsynonymous SNV	exon1	c.A858C	p.Q286H	YADINDQMLNSMQDPFGGNPFTALL	YADINDQMLNSMHDPFGGNPFTALL	3.0	2.0	unscreened	-	4335_11:5536814-5536814 T>G_YADINDQMLNSMHDPFGGNPFTALL
1:179504035-179504040 AAGAAC>-	0.0	4335	COLON	-	-	ID=COSM146262;OCCURENCE=2(haematopoietic_and_lymphoid_tissue)	-	AXDND1	ENST00000434088,p.850_852del|ENST00000367618,p.990_992del|uc021pfj.1,p.874_876del|uc001gmo.3,p.990_992del|NM_144696,p.990_992del	protein_coding, processed_transcript, nonsense_mediated_decay	uc021pfj.1	nonframeshift deletion	exon21	c.2621_2626del	p.874_876del	KENQDEREVKEEEEQQEEEEVRSAEN	KENQDEREVKEEEQEEEEVRSAENS	4.0	5.0	unscreened	-	4335_1:179504035-179504040 AAGAAC>-_KENQDEREVKEEEQEEEEVRSAENS
3:139181060-139181060 T>G	0.0	4335	COLON	-	-	-	-	RBP2	NM_004164,p.N49T|ENST00000232217,p.N49T|uc003eth.3,p.N49T|ENST00000511956,p.N49T	protein_coding	uc003eth.3	nonsynonymous SNV	exon2	c.A146C	p.N49T	LTQTKVIDQDGDNFKTKTTSTFRNY	LTQTKVIDQDGDTFKTKTTSTFRNY	4.0	2.0	unscreened	-	4335_3:139181060-139181060 T>G_LTQTKVIDQDGDTFKTKTTSTFRNY
20:17479649-17479649 C>G	0.0	4335	COLON	-	-	-	-	BFSP1	uc002wpo.3,p.E258Q|ENST00000536626,p.E119Q|ENST00000377868,p.E133Q|uc002wpp.3,p.E133Q|NM_001278607,p.E147Q|NM_001278606,p.E119Q|ENST00000544874,p.E119Q|uc010zrn.2,p.E119Q|NM_001278608,p.E119Q|NM_001195,p.E258Q|NM_001161705,p.E133Q|ENST00000377873,p.E258Q|uc010zro.2,p.E119Q	protein_coding, processed_transcript	uc010zro.2	nonsynonymous SNV	exon8	c.G355C	p.E119Q	TTTLEQAIKSAHECYDDEIQLYNEQ	TTTLEQAIKSAHQCYDDEIQLYNEQ	4.0	1.0	unscreened	-	4335_20:17479649-17479649 C>G_TTTLEQAIKSAHQCYDDEIQLYNEQ
9:117063401-117063401 T>A	0.0	4335	COLON	-	-	-	-	COL27A1	NM_032888,p.L1584H|uc011lxl.2,p.L1584H|ENST00000356083,p.L1584H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lxl.2	nonsynonymous SNV	exon52	c.T4751A	p.L1584H	IVGPLGILGPSGLPGPKGDKGSRGD	IVGPLGILGPSGHPGPKGDKGSRGD	8.0	1.0	-	-	4335_9:117063401-117063401 T>A_IVGPLGILGPSGHPGPKGDKGSRGD
19:23542703-23542703 T>A	1.0	4335	COLON	-	-	-	-	ZNF91	uc010xrj.2,p.E994D|ENST00000397082,p.E994D|NM_001300951,p.E994D|NM_003430,p.E1026D|ENST00000300619,p.E1026D|uc002nre.3,p.E1026D	retained_intron, protein_coding, processed_transcript	uc010xrj.2	nonsynonymous SNV	exon3	c.A2982T	p.E994D	RMHTGEKPYKCEECGKAFNRSSKLT	RMHTGEKPYKCEDCGKAFNRSSKLT	10.0	2.0	-	-	4335_19:23542703-23542703 T>A_RMHTGEKPYKCEDCGKAFNRSSKLT
16:78005801-78005801 C>G	0.0	4335	COLON	-	-	-	-	VAT1L	NM_020927,p.L378V|uc002ffg.1,p.L378V|ENST00000302536,p.L378V	protein_coding, processed_transcript	uc002ffg.1	nonsynonymous SNV	exon8	c.C1132G	p.L378V	RIHDRGNIGKLILDVEKTPTPLMAN	RIHDRGNIGKLIVDVEKTPTPLMAN	3.0	2.0	unscreened	-	4335_16:78005801-78005801 C>G_RIHDRGNIGKLIVDVEKTPTPLMAN
4:4322514-4322514 A>C	0.0	4335	COLON	-	-	-	-	ZBTB49	uc010icz.3,p.D168A|ENST00000538529,p.D73A|uc003ghu.3,p.D590A|ENST00000355834,p.D468A|uc003ghv.3,p.D73A|ENST00000337872,p.D590A|NM_145291,p.D590A	protein_coding, nonsense_mediated_decay	uc010icz.3	nonsynonymous SNV	exon2	c.A503C	p.D168A	LRRHKKMHCKAGDESPDVLEELSQA	LRRHKKMHCKAGAESPDVLEELSQA	5.0	2.0	-	-	4335_4:4322514-4322514 A>C_LRRHKKMHCKAGAESPDVLEELSQA
14:64735578-64735578 T>G	0.0	4335	COLON	-	-	-	-	ESR2	NM_001271876,p.N196T|NM_001214902,p.N196T|uc001xgv.3,p.N196T|uc001xha.1,p.N196T|uc001xgy.2,p.N196T|uc031qoy.1,p.N196T|uc001xgz.2,p.N196T|ENST00000353772,p.N196T|ENST00000555278,p.N196T|ENST00000542956,p.N196T|NM_001271877,p.N196T|uc010aqc.1,p.N196T|ENST00000557772,p.N196T|ENST00000341099,p.N196T|ENST00000344288,p.N196T|ENST00000267525,p.N196T|NM_001437,p.N196T|NM_001291712,p.N196T|uc001xgu.3,p.N196T|NM_001040275,p.N196T|ENST00000358599,p.N196T|NM_001291723,p.N196T|ENST00000553796,p.N196T|ENST00000554572,p.N196T|uc001xgx.3,p.N196T|ENST00000556275,p.N196T|ENST00000357782,p.N196T	protein_coding, processed_transcript, nonsense_mediated_decay	uc031qoy.1	nonsynonymous SNV	exon3	c.A587C	p.N196T	ICPATNQCTIDKNRRKSCQACRLRK	ICPATNQCTIDKTRRKSCQACRLRK	3.0	2.0	unscreened	-	4335_14:64735578-64735578 T>G_ICPATNQCTIDKTRRKSCQACRLRK
6:17130950-17130950 G>T	0.0	4335	COLON	-	-	-	-	STMND1	ENST00000536551,p.R223S|NM_001190766,p.R223S|uc021ymc.1,p.R223S	retained_intron, protein_coding	uc021ymc.1	nonsynonymous SNV	exon5	c.G669T	p.R223S	AEVAFAKGLQRVRSAGFEPSDLQGG	AEVAFAKGLQRVSSAGFEPSDLQGG	4.0	3.0	unscreened	-	4335_6:17130950-17130950 G>T_AEVAFAKGLQRVSSAGFEPSDLQGG
3:89259112-89259112 T>G	0.0	4335	COLON	-	-	-	2	EPHA3	NM_182644,p.W86G|uc021xbf.1,p.W86G|uc003dqx.1,p.W86G|ENST00000452448,p.W86G|ENST00000494014,p.W86G|ENST00000336596,p.W86G|uc003dqy.3,p.W86G|NM_005233,p.W86G	protein_coding	uc021xbf.1	nonsynonymous SNV	exon3	c.T256G	p.W86G	MDHSQNNWLRTNWVPRNSAQKIYVE	MDHSQNNWLRTNGVPRNSAQKIYVE	4.0	1.0	unscreened	-	4335_3:89259112-89259112 T>G_MDHSQNNWLRTNGVPRNSAQKIYVE
9:116122868-116122868 T>G	0.0	4335	COLON	-	-	-	-	BSPRY	ENST00000374183,p.L128V|uc010muw.3,p.L128V|uc004bhg.4,p.L128V|NM_017688,p.L128V	protein_coding, processed_transcript	uc010muw.3	nonsynonymous SNV	exon3	c.T382G	p.L128V	LVRSLCESEEQRLLEQVHGEEERAH	LVRSLCESEEQRVLEQVHGEEERAH	5.0	1.0	-	-	4335_9:116122868-116122868 T>G_LVRSLCESEEQRVLEQVHGEEERAH
21:33355910-33355910 G>T	0.0	4335	COLON	-	-	-	-	HUNK	ENST00000270112,p.K415N|ENST00000439107,p.K29N|NM_014586,p.K415N|uc002yph.3,p.K415N	protein_coding, processed_transcript	uc002yph.3	nonsynonymous SNV	exon8	c.G1245T	p.K415N	TRLYQIEKYRAPKESYEASLDTWTR	TRLYQIEKYRAPNESYEASLDTWTR	4.0	1.0	unscreened	-	4335_21:33355910-33355910 G>T_TRLYQIEKYRAPNESYEASLDTWTR
6:144184421-144184421 A>G	1.0	4335	COLON	-	-	-	-	LTV1	uc003qjs.3,p.K439E|NM_032860,p.K439E|ENST00000367576,p.K439E	protein_coding	uc003qjs.3	nonsynonymous SNV	exon10	c.A1315G	p.K439E	KRARKQAIKEERKERRVEKKANKLA	KRARKQAIKEEREERRVEKKANKLA	8.0	3.0	-	-	4335_6:144184421-144184421 A>G_KRARKQAIKEEREERRVEKKANKLA
X:140995210-140995210 T>A	0.0	4335	COLON	-	-	-	-	MAGEC1	uc004fbt.3,p.S674T|uc022cfi.1,p.S333T|ENST00000285879,p.S674T|NM_005462,p.S674T	protein_coding	uc022cfi.1	nonsynonymous SNV	exon1	c.T997A	p.S333T	SPQSPPEGMHSQSPLQSPESAPEGE	SPQSPPEGMHSQTPLQSPESAPEGE	1.0	2.0	unscreened	-	4335_X:140995210-140995210 T>A_SPQSPPEGMHSQTPLQSPESAPEGE
3:167086282-167086282 C>T	0.0	4335	COLON	-	-	-	-	ZBBX	NM_001199201,p.R50Q|uc003feq.3,p.R21Q|NM_001199202,p.R21Q|ENST00000455345,p.R50Q|ENST00000392766,p.R50Q|uc003fep.3,p.R50Q|uc011bpc.2,p.R50Q|NM_024687,p.R50Q|ENST00000474464,p.R50Q|ENST00000392764,p.R21Q|ENST00000392767,p.R50Q|ENST00000307529,p.R50Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bpc.2	nonsynonymous SNV	exon5	c.G149A	p.R50Q	ENQEMEKKLQEFRSTRNKEKEDRES	ENQEMEKKLQEFQSTRNKEKEDRES	6.0	3.0	unscreened	-	4335_3:167086282-167086282 C>T_ENQEMEKKLQEFQSTRNKEKEDRES
3:167086282-167086282 C>T	0.0	4335	COLON	-	-	-	-	ZBBX	ENST00000485651,p.R21Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000485651	nonsynonymous SNV	exon6	c.G62A	p.R21Q	ENQEMEKKLQEFRSTRNKEKEDREM	ENQEMEKKLQEFQSTRNKEKEDREM	6.0	3.0	unscreened	-	4335_3:167086282-167086282 C>T_ENQEMEKKLQEFQSTRNKEKEDREM
3:44611528-44611528 C>A	0.0	4335	COLON	-	-	-	-	ZKSCAN7	uc010hio.3,p.A158E|NM_001288592,p.A158E|uc003cnh.4,p.A93E|ENST00000447279,p.A158E|ENST00000426540,p.A309E|ENST00000273320,p.A309E|uc010hin.3,p.A309E|NM_018651,p.A309E|NM_001288590,p.A309E|uc003cnj.3,p.A309E	retained_intron, protein_coding, nonsense_mediated_decay	uc010hio.3	nonsynonymous SNV	exon5	c.C473A	p.A158E	TSGGLFGVVPGAAETGDVCEDTFKE	TSGGLFGVVPGAEETGDVCEDTFKE	5.0	2.0	unscreened	-	4335_3:44611528-44611528 C>A_TSGGLFGVVPGAEETGDVCEDTFKE
9:70993217-70993217 A>G	0.0	4335	COLON	-	-	-	-	PGM5	uc004agr.3,p.S122G|ENST00000396396,p.S122G|NM_021965,p.S122G|ENST00000431583,p.S88G|ENST00000396392,p.S122G	retained_intron, protein_coding, processed_transcript	uc004agr.3	nonsynonymous SNV	exon2	c.A364G	p.S122G	KIKAAGGIILTASHCPGGPGGEFGV	KIKAAGGIILTAGHCPGGPGGEFGV	6.0	2.0	-	-	4335_9:70993217-70993217 A>G_KIKAAGGIILTAGHCPGGPGGEFGV
12:14959426-14959426 T>G	0.0	4335	COLON	-	-	-	-	SMCO3	uc001rck.1,p.K63N|NM_001013698,p.K63N|ENST00000316048,p.K63N|uc021qvp.1,p.K63N	protein_coding	uc021qvp.1	nonsynonymous SNV	exon1	c.A189C	p.K63N	LASIEMKRDGTIKENCDLIIQAIMK	LASIEMKRDGTINENCDLIIQAIMK	2.0	1.0	unscreened	-	4335_12:14959426-14959426 T>G_LASIEMKRDGTINENCDLIIQAIMK
10:21804457-21804457 T>G	0.0	4335	COLON	-	-	-	-	SKIDA1	uc021pnx.1,p.K765N|ENST00000449193,p.K765N|ENST00000444772,p.K686N|uc009xkd.3,p.K765N|NM_207371,p.K765N	protein_coding, processed_transcript	uc021pnx.1	nonsynonymous SNV	exon1	c.A2295C	p.K765N	QSQGLSCTLGSPKPEDGEYKFGARV	QSQGLSCTLGSPNPEDGEYKFGARV	1.0	2.0	unscreened	-	4335_10:21804457-21804457 T>G_QSQGLSCTLGSPNPEDGEYKFGARV
22:40045618-40045618 C>G	0.0	4335	COLON	-	-	-	-	CACNA1I	ENST00000407673,p.D525E|ENST00000404898,p.D525E|ENST00000400164,p.D525E|ENST00000402142,p.D560E|uc003ayc.3,p.D560E|uc003aye.3,p.D475E|NM_001003406,p.D525E|uc003ayd.3,p.D525E|NM_021096,p.D560E|ENST00000401624,p.D560E|ENST00000336649,p.D566E|uc003ayf.3,p.D440E	protein_coding, processed_transcript	uc003ayf.3	nonsynonymous SNV	exon8	c.C1320G	p.D440E	SDPASCPCCQHEDGRRPSGLGSTDS	SDPASCPCCQHEEGRRPSGLGSTDS	3.0	2.0	unscreened	-	4335_22:40045618-40045618 C>G_SDPASCPCCQHEEGRRPSGLGSTDS
9:138379968-138379968 C>A	0.0	4335	COLON	-	-	-	-	PPP1R26	ENST00000356818,p.S1204R|ENST00000401470,p.S1204R|uc004cfr.1,p.S1204R|ENST00000604351,p.S1204R|uc022bpi.1,p.S1204R|NM_014811,p.S1204R|ENST00000605286,p.S1204R|ENST00000605660,p.S1204R	protein_coding	uc022bpi.1	nonsynonymous SNV	exon1	c.C3612A	p.S1204R	DFSDTSTEDSGGSSVVKV	DFSDTSTEDSGGRSVVKV	5.0	1.0	-	-	4335_9:138379968-138379968 C>A_DFSDTSTEDSGGRSVVKV
15:43821115-43821115 G>C	0.0	4335	COLON	-	-	-	-	MAP1A	ENST00000300231,p.V2482L|ENST00000382031,p.V2720L|uc001zrt.3,p.V2482L|ENST00000399453,p.V2482L|NM_002373,p.V2482L	protein_coding	uc001zrt.3	nonsynonymous SNV	exon4	c.G7444C	p.V2482L	EVRLVGRGGRRRVGGPGTTGGPCPV	EVRLVGRGGRRRLGGPGTTGGPCPV	6.0	1.0	-	-	4335_15:43821115-43821115 G>C_EVRLVGRGGRRRLGGPGTTGGPCPV
1:153190967-153190967 A>C	0.0	4335	COLON	-	-	-	-	PRR9	ENST00000368744,p.K116T|uc031ppe.1,p.K116T|uc021ozw.1,p.K116T|NM_001195571,p.K116T	protein_coding	uc031ppe.1	nonsynonymous SNV	exon1	c.A347C	p.K116T	KVQEKCSSPGKGK	KVQEKCSSPGKGT	1.0	1.0	unscreened	-	4335_1:153190967-153190967 A>C_KVQEKCSSPGKGT
14:105860924-105860924 A>C	1.0	4345	COLON	-	-	-	-	PACS2	uc001yqu.3,p.K877T|ENST00000551743,p.K376T|ENST00000458164,p.K877T|ENST00000430725,p.K787T|NM_015197,p.K862T|ENST00000325438,p.K862T|uc001yqt.3,p.K862T|NM_001243127,p.K787T|ENST00000551801,p.K63T|NM_001100913,p.K877T|ENST00000447393,p.K866T|uc001yqs.2,p.K787T|ENST00000547217,p.K832T	retained_intron, protein_coding	uc001yqu.3	nonsynonymous SNV	exon25	c.A2630C	p.K877T	RVLIDGVECSDVKFFQLAAQWSSHV	RVLIDGVECSDVTFFQLAAQWSSHV	9.0	5.0	-	-	4345_14:105860924-105860924 A>C_RVLIDGVECSDVTFFQLAAQWSSHV
12:51502999-51502999 G>A	1.0	4345	COLON	-	-	-	-	TFCP2	uc009zly.1,p.P110S|ENST00000257915,p.P208S|ENST00000549867,p.P208S|ENST00000548108,p.P110S|NM_005653,p.P208S|uc001rxv.2,p.P208S|NM_001173452,p.P208S|uc001rxw.3,p.P208S	retained_intron, protein_coding	uc009zly.1	nonsynonymous SNV	exon6	c.C328T	p.P110S	FTMRKHGGEKGVPFRVQIDTFKENE	FTMRKHGGEKGVSFRVQIDTFKENE	7.0	10.0	-	-	4345_12:51502999-51502999 G>A_FTMRKHGGEKGVSFRVQIDTFKENE
22:40805022-40805022 A>C	1.0	4345	COLON	-	-	-	-	SGSM3	ENST00000248929,p.N663T|ENST00000427834,p.N108T|NM_015705,p.N663T|uc003ayu.1,p.N663T|uc011aot.1,p.N574T|NM_001301849,p.N574T	retained_intron, protein_coding	uc011aot.1	nonsynonymous SNV	exon18	c.A1721C	p.N574T	DVKLRSLICVGLNEQVLHLWLEVLC	DVKLRSLICVGLTEQVLHLWLEVLC	8.0	4.0	-	-	4345_22:40805022-40805022 A>C_DVKLRSLICVGLTEQVLHLWLEVLC
16:1411953-1411953 T>G	1.0	4345	COLON	-	-	-	-	GNPTG	NM_032520,p.L105R|ENST00000204679,p.L105R|uc002clm.3,p.L105R	retained_intron, protein_coding, nonsense_mediated_decay	uc002clm.3	nonsynonymous SNV	exon5	c.T314G	p.L105R	EQTFRWNAYSGILGIWHEWEIANNT	EQTFRWNAYSGIRGIWHEWEIANNT	10.0	7.0	CD8	-	4345_16:1411953-1411953 T>G_EQTFRWNAYSGIRGIWHEWEIANNT
12:4398014-4398014 A>G	1.0	4345	COLON	-	-	-	1	CCND2	ENST00000261254,p.K193R|NM_001759,p.K193R|uc001qmo.3,p.K193R	retained_intron, protein_coding, processed_transcript	uc001qmo.3	nonsynonymous SNV	exon4	c.A578G	p.K193R	AQTFIALCATDFKFAMYPPSMIATG	AQTFIALCATDFRFAMYPPSMIATG	6.0	5.0	-	-	4345_12:4398014-4398014 A>G_AQTFIALCATDFRFAMYPPSMIATG
1:229730481-229730481 A>T	1.0	4345	COLON	-	-	-	-	TAF5L	uc001htq.3,p.S445T|NM_014409,p.S445T|ENST00000258281,p.S445T|ENST00000366676,p.S445T	protein_coding, processed_transcript	uc001htq.3	nonsynonymous SNV	exon5	c.T1333A	p.S445T	KFHPNSNYLATGSTDKTVRLWSAQQ	KFHPNSNYLATGTTDKTVRLWSAQQ	6.0	2.0	-	-	4345_1:229730481-229730481 A>T_KFHPNSNYLATGTTDKTVRLWSAQQ
2:37347271-37347271 T>G	1.0	4345	COLON	-	-	-	-	EIF2AK2	uc010yng.2,p.K360T|NM_001135652,p.K319T|NM_001135651,p.K360T|NM_002759,p.K360T|ENST00000405334,p.K319T|uc010fac.3,p.K360T|ENST00000395127,p.K360T|uc010ynh.2,p.K360T|uc010fab.2,p.K319T|ENST00000233057,p.K360T	retained_intron, protein_coding	uc010ynh.2	nonsynonymous SNV	exon13	c.A1079C	p.K360T	PENSKNSSRSKTKCLFIQMEFCDKG	PENSKNSSRSKTTCLFIQMEFCDKG	7.0	5.0	-	-	4345_2:37347271-37347271 T>G_PENSKNSSRSKTTCLFIQMEFCDKG
2:37347271-37347271 T>G	1.0	4345	COLON	-	-	-	-	EIF2AK2	uc010fad.2,p.K307T	retained_intron, protein_coding	uc010fad.2	nonsynonymous SNV	exon12	c.A920C	p.K307T	IKRVKYNNESKTKCLFIQMEFCDKG	IKRVKYNNESKTTCLFIQMEFCDKG	7.0	5.0	-	-	4345_2:37347271-37347271 T>G_IKRVKYNNESKTTCLFIQMEFCDKG
2:37096829-37096829 T>G	0.0	4345	COLON	-	-	-	1	STRN	NM_003162,p.K456T|uc002rpn.3,p.K456T|ENST00000263918,p.K456T|ENST00000379213,p.K407T|uc010ezx.3,p.K419T	retained_intron, protein_coding	uc010ezx.3	nonsynonymous SNV	exon10	c.A1256C	p.K419T	NNKDALRKTWNPKFTLRSHFDGIRA	NNKDALRKTWNPTFTLRSHFDGIRA	8.0	1.0	-	-	4345_2:37096829-37096829 T>G_NNKDALRKTWNPTFTLRSHFDGIRA
11:406961-406961 C>T	1.0	4345	COLON	-	-	-	-	SIGIRR	ENST00000397632,p.R254H|ENST00000382520,p.R254H|uc001lpd.2,p.R254H|ENST00000431843,p.R254H|NM_001135054,p.R254H|NM_001135053,p.R254H|ENST00000531205,p.R254H|ENST00000332725,p.R254H|uc001lpg.3,p.R254H|ENST00000528209,p.R150H|NM_021805,p.R254H|uc001lpe.1,p.R254H|uc001lpf.2,p.R254H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001lpg.3	nonsynonymous SNV	exon7	c.G761A	p.R254H	FREGLCRLLELTRRPIFITFEGQRR	FREGLCRLLELTHRPIFITFEGQRR	9.0	6.0	-	-	4345_11:406961-406961 C>T_FREGLCRLLELTHRPIFITFEGQRR
7:6066495-6066495 C>A	1.0	4345	COLON	-	-	-	-	EIF2AK1	ENST00000199389,p.G543V|uc003spq.3,p.G542V|uc003spp.3,p.G543V|ENST00000536084,p.G419V|NM_001134335,p.G542V|NM_014413,p.G543V|uc011jwm.1,p.G419V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011jwm.1	nonsynonymous SNV	exon13	c.G1256T	p.G419V	MERAEVLTGLRTGQLPESLRKRCPV	MERAEVLTGLRTVQLPESLRKRCPV	10.0	4.0	-	-	4345_7:6066495-6066495 C>A_MERAEVLTGLRTVQLPESLRKRCPV
3:113376897-113376897 T>C	1.0	4345	COLON	-	-	-	-	KIAA2018	ENST00000316407,p.E1211G|uc003eam.3,p.E1211G|uc003eal.3,p.E1155G|ENST00000478658,p.E1211G|NM_001009899,p.E1211G	retained_intron, protein_coding	uc003eam.3	nonsynonymous SNV	exon7	c.A3632G	p.E1211G	QGSIEATMERPLEKPSCSLGIKTSN	QGSIEATMERPLGKPSCSLGIKTSN	6.0	3.0	-	-	4345_3:113376897-113376897 T>C_QGSIEATMERPLGKPSCSLGIKTSN
10:126694134-126694134 A>G	0.0	4345	COLON	-	-	-	-	CTBP2	ENST00000334808,p.S82P|uc001lid.4,p.S82P	retained_intron, protein_coding, processed_transcript	uc001lid.4	nonsynonymous SNV	exon1	c.T244C	p.S82P	GYPALCCTLPVHSYRSWAGIRPQIM	GYPALCCTLPVHPYRSWAGIRPQIM	9.0	1.0	-	-	4345_10:126694134-126694134 A>G_GYPALCCTLPVHPYRSWAGIRPQIM
22:50727561-50727561 T>A	1.0	4345	COLON	-	-	-	-	PLXNB2	ENST00000411680,p.K19M|uc003bkv.4,p.K360M|ENST00000432455,p.K360M|ENST00000449103,p.K360M|NM_012401,p.K360M|ENST00000359337,p.K360M	retained_intron, protein_coding, processed_transcript	uc003bkv.4	nonsynonymous SNV	exon4	c.A1079T	p.K360M	DIQCGGHAPGSSKSFPCGSEHLPYP	DIQCGGHAPGSSMSFPCGSEHLPYP	10.0	4.0	-	-	4345_22:50727561-50727561 T>A_DIQCGGHAPGSSMSFPCGSEHLPYP
7:33427607-33427607 C>T	1.0	4345	COLON	-	-	-	-	BBS9	ENST00000354265,p.R621W|uc003tdr.1,p.R180W|NM_198428,p.R656W|NM_001033605,p.R651W|uc003tdq.1,p.R616W|NM_014451,p.R616W|ENST00000242067,p.R656W|uc003tdp.1,p.R651W|NM_001033604,p.R621W|uc003tds.1,p.R79W|uc003tdn.1,p.R656W|ENST00000355070,p.R651W|ENST00000350941,p.R616W|ENST00000396127,p.R621W|uc003tdo.1,p.R621W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003tds.1	nonsynonymous SNV	exon6	c.C235T	p.R79W	EYFELIDHHFELRINGEKLEELLSE	EYFELIDHHFELWINGEKLEELLSE	8.0	9.0	-	-	4345_7:33427607-33427607 C>T_EYFELIDHHFELWINGEKLEELLSE
3:118935103-118935103 C>T	1.0	4345	COLON	-	-	-	-	B4GALT4	uc003eci.3,p.E296K|NM_212543,p.E296K|ENST00000359213,p.E296K|uc003ech.3,p.E296K|NM_003778,p.E296K|ENST00000393765,p.E296K|ENST00000483209,p.E296K|uc003ecg.3,p.E296K	protein_coding, processed_transcript, nonsense_mediated_decay	uc003eci.3	nonsynonymous SNV	exon7	c.G886A	p.E296K	YTMVFHTRDKGNEVNAERMKLLHQV	YTMVFHTRDKGNKVNAERMKLLHQV	7.0	10.0	-	-	4345_3:118935103-118935103 C>T_YTMVFHTRDKGNKVNAERMKLLHQV
5:60194173-60194173 A>T	1.0	4345	COLON	-	-	-	-	ERCC8	NM_001290285,p.L105H|uc011cqp.1,p.L105H|uc003jsl.3,p.L200H|ENST00000543101,p.L105H|ENST00000265038,p.L258H|uc003jsm.3,p.L258H|ENST00000426742,p.L200H|NM_000082,p.L258H|NM_001007233,p.L200H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cqp.1	nonsynonymous SNV	exon8	c.T314A	p.L105H	GKVNGLCFTSDGLHLLTVGTDNRMR	GKVNGLCFTSDGHHLLTVGTDNRMR	6.0	6.0	-	-	4345_5:60194173-60194173 A>T_GKVNGLCFTSDGHHLLTVGTDNRMR
14:105412858-105412858 T>G	1.0	4345	COLON	-	-	-	-	AHNAK2	ENST00000333244,p.K2977T|uc001ypx.2,p.K2877T|NM_138420,p.K2977T|uc010axc.1,p.K2977T	retained_intron, protein_coding	uc010axc.1	nonsynonymous SNV	exon7	c.A8930C	p.K2977T	SLADKDVTAKDSKFKMPKFKMPSFG	SLADKDVTAKDSTFKMPKFKMPSFG	10.0	2.0	-	-	4345_14:105412858-105412858 T>G_SLADKDVTAKDSTFKMPKFKMPSFG
16:1716469-1716469 C>G	1.0	4345	COLON	-	-	-	-	CRAMP1L	NM_020825,p.N968K|ENST00000397412,p.N968K|ENST00000262317,p.N346K|ENST00000436138,p.N965K|ENST00000293925,p.N968K|uc010uvh.2,p.N968K	retained_intron, protein_coding	uc010uvh.2	nonsynonymous SNV	exon15	c.C2904G	p.N968K	DLAATSAGILSGNPLPALDTEGLSG	DLAATSAGILSGKPLPALDTEGLSG	8.0	10.0	-	-	4345_16:1716469-1716469 C>G_DLAATSAGILSGKPLPALDTEGLSG
3:56809134-56809134 T>G	0.0	4345	COLON	-	-	-	-	ARHGEF3	NM_001128616,p.E3A|uc003dif.2,p.E3A|ENST00000413728,p.E3A	protein_coding, processed_transcript, nonsense_mediated_decay	uc003dif.2	nonsynonymous SNV	exon1	c.A8C	p.E3A	MIEVCHHNWLLWLCP	MIAVCHHNWLLWLCP	7.0	6.0	-	-	4345_3:56809134-56809134 T>G_MIAVCHHNWLLWLCP
11:124007301-124007301 A>C	0.0	4345	COLON	-	-	-	-	VWA5A	ENST00000456829,p.E515D|NM_001130142,p.E515D|uc001pzt.3,p.E515D|ENST00000392748,p.E515D|uc001pzu.3,p.E515D|NM_014622,p.E515D	retained_intron, protein_coding	uc001pzu.3	nonsynonymous SNV	exon14	c.A1545C	p.E515D	LTGRMPAAETTGEVCLKYTLQGKTF	LTGRMPAAETTGDVCLKYTLQGKTF	8.0	6.0	-	-	4345_11:124007301-124007301 A>C_LTGRMPAAETTGDVCLKYTLQGKTF
10:24874728-24874729 CT>-	1.0	4345	COLON	-	-	-	-	ARHGAP21	ENST00000396432,p.S1497fs|uc001isb.2,p.S1497fs|NM_020824,p.S1497fs	retained_intron, protein_coding, processed_transcript	uc001isb.2	frameshift deletion	exon26	c.4489_4490del	p.S1497fs	TTKDEKISLGKESTPSEEPSPPHNSK	TTKDEKISLGKEHAF	7.0	10.0	-	-	4345_10:24874728-24874729 CT>-_TTKDEKISLGKEHAF
4:57211342-57211342 A>T	0.0	4345	COLON	-	-	-	-	AASDH	uc010ihb.3,p.L383H|ENST00000434343,p.L383H|NM_181806,p.L868H|uc003hbn.3,p.L868H|uc003hbo.3,p.L768H|NM_001286669,p.L715H|ENST00000513376,p.L768H|ENST00000205214,p.L868H|NM_001286668,p.L768H|uc011cab.2,p.L383H|NM_001286670,p.L383H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cab.2	nonsynonymous SNV	exon9	c.T1148A	p.L383H	VKSSATMDPTTGLIYIGSHDQHAYA	VKSSATMDPTTGHIYIGSHDQHAYA	6.0	3.0	-	-	4345_4:57211342-57211342 A>T_VKSSATMDPTTGHIYIGSHDQHAYA
2:160706647-160706647 A>-	0.0	4345	COLON	-	-	-	-	LY75,LY75-CD302	ENST00000553424,p.F998fs|NM_002349,p.F998fs|ENST00000554112,p.F998fs|ENST00000504764,p.F998fs|NM_001198759,p.F998fs|uc010fos.3,p.F998fs|NM_001198760,p.F998fs|uc002ubc.4,p.F998fs|ENST00000263636,p.F998fs|ENST00000505052,p.F998fs|uc002ubb.4,p.F998fs	retained_intron, protein_coding, processed_transcript	uc010fos.3	frameshift deletion	exon23	c.2994delT	p.F998fs	TLPSVLSQIEQDFITSLLPDMEATLW	TLPSVLSQIEQDLLHPCFRIWKLLYGLVCAGLPMKR	7.0	6.0	-	-	4345_2:160706647-160706647 A>-_TLPSVLSQIEQDLLHPCFRIWKLLYGLVCAGLPMKR
14:91937309-91937309 A>C	1.0	4345	COLON	-	-	-	-	SMEK1	uc001xzn.3,p.L511R|ENST00000428424,p.L272R|uc010atz.3,p.L272R|NM_001284281,p.L272R|uc001xzo.3,p.L498R|ENST00000554943,p.L511R|ENST00000554390,p.L498R|NM_001284280,p.L498R|ENST00000554684,p.L498R|uc001xzm.3,p.L498R|ENST00000555462,p.L272R|ENST00000337238,p.L498R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay, non_stop_decay	uc010atz.3	nonsynonymous SNV	exon8	c.T815G	p.L272R	SKDDFQTAQLLALVLELLTFCVEHH	SKDDFQTAQLLARVLELLTFCVEHH	10.0	1.0	-	-	4345_14:91937309-91937309 A>C_SKDDFQTAQLLARVLELLTFCVEHH
10:32740760-32740760 C>T	0.0	4345	COLON	-	-	-	-	CCDC7	ENST00000362006,p.R64W|uc001iwj.3,p.R64W|ENST00000545067,p.R64W|ENST00000476558,p.R64W|uc001iwk.3,p.R64W|ENST00000277657,p.R64W|uc009xlx.1,p.R64W|NM_145023,p.R64W|ENST00000535327,p.R64W|NM_001026383,p.R64W|ENST00000537047,p.R64W|ENST00000539197,p.R64W	protein_coding, processed_transcript, nonsense_mediated_decay	uc009xlx.1	nonsynonymous SNV	exon1	c.C190T	p.R64W	VLRSPPTGESILRYALPIPSSKTKN	VLRSPPTGESILWYALPIPSSKTKN	5.0	10.0	-	-	4345_10:32740760-32740760 C>T_VLRSPPTGESILWYALPIPSSKTKN
2:182780661-182780661 G>C	0.0	4345	COLON	-	-	-	-	SSFA2	uc002uol.3,p.R612T|uc002uoj.3,p.R765T|NM_001287503,p.R765T|ENST00000409136,p.R274T|ENST00000431877,p.R765T|NM_001130445,p.R765T|uc010zfo.2,p.R612T|NM_006751,p.R765T|uc002uoi.3,p.R765T|ENST00000409001,p.R765T|ENST00000320370,p.R765T|uc002uoh.3,p.R765T|uc002uom.3,p.R233T|NM_001287504,p.R612T|ENST00000428267,p.R612T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zfo.2	nonsynonymous SNV	exon10	c.G1835C	p.R612T	SVNVRLSPGKETRCSPPSFTYKYTP	SVNVRLSPGKETTCSPPSFTYKYTP	10.0	7.0	-	-	4345_2:182780661-182780661 G>C_SVNVRLSPGKETTCSPPSFTYKYTP
9:97207274-97207274 T>G	1.0	4345	COLON	-	-	-	-	HIATL1	uc011luh.2,p.V115G|NM_032558,p.V180G|ENST00000375344,p.V180G|uc004aur.3,p.V180G|ENST00000428393,p.V115G	protein_coding	uc011luh.2	nonsynonymous SNV	exon5	c.T344G	p.V115G	YGWVSATFAASLVSSPAIGAYLSAS	YGWVSATFAASLGSSPAIGAYLSAS	8.0	5.0	-	-	4345_9:97207274-97207274 T>G_YGWVSATFAASLGSSPAIGAYLSAS
19:23542213-23542213 G>T	1.0	4345	COLON	-	-	-	-	ZNF91	NM_001300951,p.L1158I|uc010xrj.2,p.L1158I|ENST00000300619,p.L1190I|uc002nre.3,p.L1190I|ENST00000397082,p.L1158I|NM_003430,p.L1190I	retained_intron, protein_coding, processed_transcript	uc010xrj.2	nonsynonymous SNV	exon3	c.C3472A	p.L1158I	METILANTVKPLLY	METILANTVKPLIY	10.0	5.0	-	-	4345_19:23542213-23542213 G>T_METILANTVKPLIY
11:118453994-118453994 A>C	0.0	4345	COLON	-	-	-	-	ARCN1	ENST00000359415,p.E164A|ENST00000264028,p.E123A|uc010ryg.2,p.E35A|uc001ptq.3,p.E123A|NM_001655,p.E123A|NM_001142281,p.E35A|ENST00000392859,p.E35A|uc009zag.3,p.E164A	protein_coding, processed_transcript	uc010ryg.2	nonsynonymous SNV	exon2	c.A104C	p.E35A	FAFDEIVALGYRENVNLAQIRTFTE	FAFDEIVALGYRANVNLAQIRTFTE	9.0	3.0	-	-	4345_11:118453994-118453994 A>C_FAFDEIVALGYRANVNLAQIRTFTE
4:1305927-1305927 A>C	1.0	4345	COLON	-	-	-	-	MAEA	NM_005882,p.K77T|ENST00000510794,p.K76T|uc003gdb.3,p.K77T|NM_001297433,p.K29T|ENST00000509531,p.K77T|ENST00000512842,p.K29T|ENST00000503653,p.K77T|ENST00000303400,p.K77T|ENST00000264750,p.K77T|ENST00000505177,p.K77T|uc010ibs.1,p.K77T|ENST00000505839,p.K29T|NM_001297432,p.K76T|ENST00000514708,p.K77T|uc003gdc.3,p.K77T|NM_001017405,p.K77T|uc011bvd.2,p.K29T|uc003gda.3,p.K77T|NM_001297431,p.K77T|uc011bvc.2,p.K76T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bvd.2	nonsynonymous SNV	exon2	c.A86C	p.K29T	DSVVSLLDGVVEKLSVLKRKAVESI	DSVVSLLDGVVETLSVLKRKAVESI	10.0	2.0	-	-	4345_4:1305927-1305927 A>C_DSVVSLLDGVVETLSVLKRKAVESI
9:100193303-100193303 G>A	1.0	4345	COLON	-	-	-	-	TDRD7	ENST00000355295,p.R99H|NM_014290,p.R99H|uc004axj.3,p.R99H|uc011lux.2,p.R25H|ENST00000422139,p.R25H	protein_coding, processed_transcript	uc011lux.2	nonsynonymous SNV	exon2	c.G74A	p.R25H	VARQRSSKRKTGRQVNCQMRVKKTM	VARQRSSKRKTGHQVNCQMRVKKTM	7.0	10.0	-	-	4345_9:100193303-100193303 G>A_VARQRSSKRKTGHQVNCQMRVKKTM
11:66612696-66612696 T>G	0.0	4345	COLON	-	-	-	-	RCE1	ENST00000525356,p.F104V|NM_001032279,p.F123V|NM_005133,p.F227V|ENST00000309657,p.F227V|uc001ojk.1,p.F227V|uc001ojl.1,p.F123V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ojl.1	nonsynonymous SNV	exon6	c.T367G	p.F123V	QLRFRQSSVGNIFLSAAFQFSYTAV	QLRFRQSSVGNIVLSAAFQFSYTAV	8.0	7.0	-	-	4345_11:66612696-66612696 T>G_QLRFRQSSVGNIVLSAAFQFSYTAV
17:37880220-37880220 T>C	1.0	4345	COLON	-	-	ID=COSM14060;OCCURENCE=4(stomach),1(lung),1(endometrium),2(large_intestine),6(small_intestine),14(breast)	1	ERBB2	ENST00000584450,p.L755S|uc002hso.3,p.L755S|uc010cwa.3,p.L740S|uc010cwb.3,p.L755S|ENST00000406381,p.L725S|uc002hsm.3,p.L725S|ENST00000541774,p.L740S|ENST00000269571,p.L755S|ENST00000584601,p.L725S|ENST00000445658,p.L479S|uc002hsp.3,p.L558S|NM_004448,p.L755S|NM_001289936,p.L740S|NM_001289937,p.L755S|uc010wek.2,p.L479S|NM_001005862,p.L725S|ENST00000540147,p.L725S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wek.2	nonsynonymous SNV	exon13	c.T1436C	p.L479S	GENVKIPVAIKVLRENTSPKANKEI	GENVKIPVAIKVSRENTSPKANKEI	10.0	10.0	-	-	4345_17:37880220-37880220 T>C_GENVKIPVAIKVSRENTSPKANKEI
4:1305927-1305927 A>C	1.0	4345	COLON	-	-	-	-	MAEA	ENST00000502558,p.K77T|ENST00000452175,p.K66T|NM_001297430,p.K77T|uc011bvb.2,p.K77T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bvb.2	nonsynonymous SNV	exon2	c.A230C	p.K77T	DSVVSLLDGVVEKLSVLKRKDLVNI	DSVVSLLDGVVETLSVLKRKDLVNI	10.0	2.0	-	-	4345_4:1305927-1305927 A>C_DSVVSLLDGVVETLSVLKRKDLVNI
9:135271871-135271871 A>C	1.0	4345	COLON	-	-	-	-	TTF1	uc004cbl.3,p.L602R|NM_007344,p.L602R|NM_001205296,p.L87R|ENST00000334270,p.L602R|uc004cbm.3,p.L87R	protein_coding, processed_transcript	uc004cbm.3	nonsynonymous SNV	exon4	c.T260G	p.L87R	LHIGRNIARPWKLIYYRAKKMFDVN	LHIGRNIARPWKRIYYRAKKMFDVN	5.0	3.0	-	-	4345_9:135271871-135271871 A>C_LHIGRNIARPWKRIYYRAKKMFDVN
18:2705743-2705743 T>C	0.0	4345	COLON	-	-	-	-	SMCHD1	ENST00000261598,p.F632L|ENST00000577880,p.F103L|uc002klm.4,p.F632L|ENST00000320876,p.F632L|NM_015295,p.F632L	retained_intron, protein_coding, nonsense_mediated_decay	uc002klm.4	nonsynonymous SNV	exon14	c.T1894C	p.F632L	TLPLFYGSIVRFFLYGDHDGEVYAT	TLPLFYGSIVRFLLYGDHDGEVYAT	8.0	7.0	-	-	4345_18:2705743-2705743 T>C_TLPLFYGSIVRFLLYGDHDGEVYAT
9:94809535-94809535 C>G	0.0	4345	COLON	-	-	-	-	SPTLC1	uc004arl.1,p.G334R|NM_001281303,p.G334R|NM_006415,p.G334R|ENST00000262554,p.G334R|uc011ltv.1,p.G334R	protein_coding, processed_transcript	uc011ltv.1	nonsynonymous SNV	exon11	c.G1000C	p.G334R	SFVIDHQRLSGQGYCFSASLPPLLA	SFVIDHQRLSGQRYCFSASLPPLLA	10.0	8.0	-	-	4345_9:94809535-94809535 C>G_SFVIDHQRLSGQRYCFSASLPPLLA
19:47192879-47192879 T>G	0.0	4345	COLON	-	-	-	-	PRKD2	ENST00000291281,p.K629T|uc002pfh.3,p.K629T|ENST00000433867,p.K629T|ENST00000595515,p.K629T|uc002pfi.3,p.K629T|uc002pfg.3,p.K472T|NM_001079881,p.K629T|uc002pfj.3,p.K629T|ENST00000600194,p.K472T|NM_001079880,p.K629T|NM_001079882,p.K472T|uc010eks.3,p.K32T|NM_016457,p.K629T|ENST00000601806,p.K472T|uc010xye.2,p.K629T|uc002pfk.3,p.K472T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xye.2	nonsynonymous SNV	exon15	c.A1886C	p.K629T	FETPEKVFVVMEKLHGDMLEMILSS	FETPEKVFVVMETLHGDMLEMILSS	8.0	7.0	-	-	4345_19:47192879-47192879 T>G_FETPEKVFVVMETLHGDMLEMILSS
2:71747338-71747338 C>T	0.0	4345	COLON	-	-	ID=COSM1022664,COSM1153849;OCCURENCE=1(endometrium)	-	DYSF	ENST00000409744,p.R314W|NM_001130981,p.R344W|ENST00000258104,p.R313W|NM_001130976,p.R313W|uc010fee.3,p.R313W|ENST00000410020,p.R345W|uc010fef.3,p.R344W|NM_001130455,p.R314W|uc002sig.4,p.R313W|ENST00000409651,p.R345W|NM_001130980,p.R344W|NM_003494,p.R313W|uc002sif.3,p.R314W|uc010fel.3,p.R314W|uc010feg.3,p.R344W|ENST00000409762,p.R344W|uc010fei.3,p.R344W|ENST00000413539,p.R344W|uc010fen.3,p.R345W|NM_001130984,p.R314W|NM_001130979,p.R344W|NM_001130977,p.R313W|NM_001130978,p.R313W|uc010fek.3,p.R345W|uc002sie.3,p.R313W|uc010feh.3,p.R313W|NM_001130982,p.R345W|NM_001130985,p.R345W|ENST00000410041,p.R345W|ENST00000409582,p.R344W|ENST00000409366,p.R314W|uc010feo.3,p.R345W|ENST00000429174,p.R313W|NM_001130986,p.R314W|uc010fej.3,p.R314W|NM_001130983,p.R314W|ENST00000394120,p.R314W|uc010fem.3,p.R314W|NM_001130987,p.R345W	protein_coding, processed_transcript	uc010feo.3	nonsynonymous SNV	exon11	c.C1033T	p.R345W	FRMDVGTIYREPRHAYLRKWLLLSD	FRMDVGTIYREPWHAYLRKWLLLSD	6.0	10.0	-	-	4345_2:71747338-71747338 C>T_FRMDVGTIYREPWHAYLRKWLLLSD
3:49720513-49720513 G>A	1.0	4345	COLON	-	-	-	-	APEH	NM_001640,p.R676Q|ENST00000296456,p.R676Q|uc010hkw.1,p.R681Q|uc003cxf.3,p.R676Q|ENST00000438011,p.R681Q	retained_intron, protein_coding, nonsense_mediated_decay	uc010hkw.1	nonsynonymous SNV	exon21	c.G2042A	p.R681Q	KTPLLLMLGQEDRRVPFKQGMEYYR	KTPLLLMLGQEDQRVPFKQGMEYYR	9.0	9.0	-	-	4345_3:49720513-49720513 G>A_KTPLLLMLGQEDQRVPFKQGMEYYR
1:10529281-10529281 T>G	0.0	4345	COLON	-	-	-	-	DFFA	ENST00000377038,p.K84T|uc001ark.3,p.K84T|ENST00000377036,p.K84T|uc001arj.3,p.K84T|NM_213566,p.K84T|NM_004401,p.K84T|ENST00000476658,p.K84T	protein_coding, nonsense_mediated_decay	uc001ark.3	nonsynonymous SNV	exon2	c.A251C	p.K84T	DDDYFLCLPSNTKFVALASNEKWAY	DDDYFLCLPSNTTFVALASNEKWAY	7.0	1.0	-	-	4345_1:10529281-10529281 T>G_DDDYFLCLPSNTTFVALASNEKWAY
11:108099960-108099960 A>T	1.0	4345	COLON	-	-	-	1	ATM	ENST00000527891,p.N81Y|ENST00000452508,p.N81Y|ENST00000527805,p.N81Y|NM_000051,p.N81Y|ENST00000278616,p.N81Y|uc009yxr.1,p.N81Y|ENST00000532931,p.N81Y|ENST00000601453,p.N81Y|uc001pkb.1,p.N81Y|uc001pkc.1,p.N81Y	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009yxr.1	nonsynonymous SNV	exon5	c.A241T	p.N81Y	QKETECLRIAKPNVSASTQASRQKK	QKETECLRIAKPYVSASTQASRQKK	10.0	6.0	-	-	4345_11:108099960-108099960 A>T_QKETECLRIAKPYVSASTQASRQKK
2:219255961-219255961 A>C	0.0	4345	COLON	-	-	-	-	SLC11A1	uc010fvp.1,p.K332T|uc010fvr.3,p.K127T|uc010zkc.1,p.K265T|uc002vhw.3,p.K214T|NM_000578,p.K332T|ENST00000539932,p.K214T|ENST00000233202,p.K332T|uc002vhu.1,p.K127T|uc002vhv.3,p.K332T|uc010fvq.1,p.K265T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010zkc.1	nonsynonymous SNV	exon10	c.A794C	p.K265T	NICANSSLHDYAKIFPMNNATVAVD	NICANSSLHDYATIFPMNNATVAVD	7.0	6.0	-	-	4345_2:219255961-219255961 A>C_NICANSSLHDYATIFPMNNATVAVD
10:104229783-104229783 C>T	0.0	4345	COLON	-	-	-	-	TMEM180	ENST00000369931,p.P68S|uc010qqm.1,p.P68S|NM_024789,p.P68S|uc001kvu.3,p.P68S|ENST00000238936,p.P68S|uc001kvs.3,p.P68S|uc001kvt.3,p.P68S	protein_coding, processed_transcript	uc010qqm.1	nonsynonymous SNV	exon4	c.C202T	p.P68S	ETVFLLWNSLNDPLFGWLSDRQFLS	ETVFLLWNSLNDSLFGWLSDRQFLS	6.0	5.0	-	-	4345_10:104229783-104229783 C>T_ETVFLLWNSLNDSLFGWLSDRQFLS
13:42393368-42393368 C>T	1.0	4345	COLON	-	-	-	-	VWA8	ENST00000379310,p.V619M|uc001uyj.3,p.V619M|NM_001009814,p.V619M|NM_015058,p.V619M|ENST00000281496,p.V619M|uc001uyk.3,p.V619M	protein_coding, processed_transcript	uc001uyk.3	nonsynonymous SNV	exon15	c.G1855A	p.V619M	YMKPLVKSEEIQVIKEKVPNVPQEA	YMKPLVKSEEIQMIKEKVPNVPQEA	7.0	8.0	-	-	4345_13:42393368-42393368 C>T_YMKPLVKSEEIQMIKEKVPNVPQEA
18:2705692-2705692 G>C	0.0	4345	COLON	-	-	-	-	SMCHD1	NM_015295,p.V615L|uc002klm.4,p.V615L|ENST00000261598,p.V615L|ENST00000320876,p.V615L|ENST00000577880,p.V86L	retained_intron, protein_coding, nonsense_mediated_decay	uc002klm.4	nonsynonymous SNV	exon14	c.G1843C	p.V615L	EWDGKIYKAGQLVKTIKTLPLFYGS	EWDGKIYKAGQLLKTIKTLPLFYGS	8.0	4.0	-	-	4345_18:2705692-2705692 G>C_EWDGKIYKAGQLLKTIKTLPLFYGS
7:26225030-26225030 T>A	1.0	4345	COLON	-	-	-	-	NFE2L3	ENST00000056233,p.L571Q|uc003sxq.3,p.L571Q|NM_004289,p.L571Q	protein_coding	uc003sxq.3	nonsynonymous SNV	exon4	c.T1712A	p.L571Q	VDSFNSMLSRYYLTDLQVSLIRDIR	VDSFNSMLSRYYQTDLQVSLIRDIR	7.0	8.0	-	-	4345_7:26225030-26225030 T>A_VDSFNSMLSRYYQTDLQVSLIRDIR
2:160284918-160284918 C>G	0.0	4345	COLON	-	-	-	-	BAZ2B	uc002uaq.1,p.E586D|ENST00000343439,p.E656D|NM_013450,p.E756D|uc002uao.3,p.E756D|ENST00000392783,p.E756D|uc002uar.1,p.E329D|uc002uap.3,p.E754D|ENST00000392782,p.E754D|ENST00000355831,p.E756D|NM_001289975,p.E754D	retained_intron, protein_coding, processed_transcript	uc002uar.1	nonsynonymous SNV	exon4	c.G987C	p.E329D	ELRIPLEYGWQRETRIRNFGGRLQG	ELRIPLEYGWQRDTRIRNFGGRLQG	10.0	7.0	-	-	4345_2:160284918-160284918 C>G_ELRIPLEYGWQRDTRIRNFGGRLQG
1:174979171-174979171 G>A	1.0	4345	COLON	-	-	-	-	CACYBP	ENST00000367681,p.V172M|uc001gkj.1,p.V215M|NM_001007214,p.V172M|ENST00000367679,p.V215M|uc001gki.1,p.V172M|NM_014412,p.V215M|ENST00000405362,p.V172M	retained_intron, protein_coding	uc001gkj.1	nonsynonymous SNV	exon6	c.G643A	p.V215M	DDDMKRTINKAWVESREKQAKGDTE	DDDMKRTINKAWMESREKQAKGDTE	10.0	8.0	-	-	4345_1:174979171-174979171 G>A_DDDMKRTINKAWMESREKQAKGDTE
11:66639527-66639527 T>C	0.0	4345	COLON	-	-	-	-	PC	uc001ojo.1,p.K35R|ENST00000393960,p.K35R|NM_000920,p.K35R|NM_001040716,p.K35R|ENST00000393958,p.K35R|NM_022172,p.K35R|uc001ojn.1,p.K35R|ENST00000393955,p.K35R|ENST00000355677,p.K35R|uc001ojp.1,p.K35R	protein_coding, processed_transcript	uc001ojp.1	nonsynonymous SNV	exon3	c.A104G	p.K35R	PAASPNVRRLEYKPIKKVMVANRGE	PAASPNVRRLEYRPIKKVMVANRGE	6.0	6.0	-	-	4345_11:66639527-66639527 T>C_PAASPNVRRLEYRPIKKVMVANRGE
12:32873622-32873622 G>T	0.0	4345	COLON	-	-	-	-	DNM1L	NM_001278466,p.K52N|ENST00000414834,p.K52N|uc010ski.1,p.K52N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ski.1	nonsynonymous SNV	exon5	c.G156T	p.K52N	TPKIRSQLDINNKKSVTDSIRDEYA	TPKIRSQLDINNNKSVTDSIRDEYA	9.0	8.0	-	-	4345_12:32873622-32873622 G>T_TPKIRSQLDINNNKSVTDSIRDEYA
10:5978529-5978529 G>A	1.0	4345	COLON	-	-	-	-	FBXO18	ENST00000379999,p.M1031I|uc001iit.4,p.M1031I|uc001iir.4,p.M923I|NM_001258452,p.M923I|NM_178150,p.M980I|NM_032807,p.M1031I|ENST00000397269,p.M484I|ENST00000362091,p.M980I|uc001iis.4,p.M980I|uc009xig.4,p.M906I|NM_001258453,p.M906I	protein_coding, processed_transcript	uc009xig.4	nonsynonymous SNV	exon21	c.G2718A	p.M906I	CNNAIPVDTVLTMKKLPITYSNRKE	CNNAIPVDTVLTIKKLPITYSNRKE	7.0	1.0	-	-	4345_10:5978529-5978529 G>A_CNNAIPVDTVLTIKKLPITYSNRKE
2:9727613-9727613 A>C	1.0	4345	COLON	-	-	-	-	YWHAQ	NM_006826,p.L203R|ENST00000238081,p.L203R|ENST00000381844,p.L203R|uc002qzx.3,p.L203R	protein_coding, processed_transcript	uc002qzx.3	nonsynonymous SNV	exon5	c.T608G	p.L203R	LAKTAFDEAIAELDTLNEDSYKDST	LAKTAFDEAIAERDTLNEDSYKDST	10.0	4.0	-	-	4345_2:9727613-9727613 A>C_LAKTAFDEAIAERDTLNEDSYKDST
5:14508311-14508311 A>T	1.0	4345	COLON	-	-	-	-	TRIO	ENST00000537187,p.E2849V|ENST00000344204,p.E3025V|ENST00000344135,p.E524V|uc003jff.3,p.E3025V|NM_007118,p.E3025V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jff.3	nonsynonymous SNV	exon57	c.A9074T	p.E3025V	DDYFKGVSQKAKEFVCFLLQEDPAK	DDYFKGVSQKAKVFVCFLLQEDPAK	10.0	2.0	-	-	4345_5:14508311-14508311 A>T_DDYFKGVSQKAKVFVCFLLQEDPAK
2:220337689-220337689 C>T	0.0	4345	COLON	-	-	-	-	SPEG	uc010fwg.3,p.R1340W|NM_005876,p.R1340W|ENST00000312358,p.R1340W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010fwg.3	nonsynonymous SNV	exon16	c.C4018T	p.R1340W	GSDQWTALVTGLREPGWAATGLRKG	GSDQWTALVTGLWEPGWAATGLRKG	5.0	9.0	-	-	4345_2:220337689-220337689 C>T_GSDQWTALVTGLWEPGWAATGLRKG
16:16230440-16230440 T>G	1.0	4345	COLON	-	-	-	-	ABCC1	ENST00000345148,p.F1411V|ENST00000346370,p.F1355V|ENST00000399410,p.F1411V|ENST00000351154,p.F1352V|NM_004996,p.F1411V|ENST00000349029,p.F1296V|uc010bvi.3,p.F1411V|uc002del.4,p.F1305V|ENST00000399408,p.F1421V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bvi.3	nonsynonymous SNV	exon29	c.T4231G	p.F1411V	VWTSLELAHLKDFVSALPDKLDHEC	VWTSLELAHLKDVVSALPDKLDHEC	9.0	3.0	-	-	4345_16:16230440-16230440 T>G_VWTSLELAHLKDVVSALPDKLDHEC
12:32873622-32873622 G>T	0.0	4345	COLON	-	-	-	-	DNM1L	ENST00000548750,p.K226N|NM_001278465,p.K268N|uc001rlh.2,p.K308N|uc001rle.2,p.K255N|ENST00000358214,p.K268N|ENST00000553257,p.K268N|ENST00000452533,p.K255N|ENST00000547312,p.K255N|ENST00000549701,p.K255N|ENST00000266481,p.K255N|NM_001278463,p.K255N|ENST00000381000,p.K268N|uc001rlg.2,p.K321N|uc001rld.2,p.K255N|uc010skh.1,p.K321N|NM_012063,p.K255N|uc001rlf.2,p.K255N|NM_012062,p.K255N|NM_001278464,p.K268N|NM_005690,p.K255N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010skh.1	nonsynonymous SNV	exon9	c.G963T	p.K321N	GVVNRSQLDINNKKSVTDSIRDEYA	GVVNRSQLDINNNKSVTDSIRDEYA	9.0	8.0	-	-	4345_12:32873622-32873622 G>T_GVVNRSQLDINNNKSVTDSIRDEYA
9:140458985-140458985 C>G	0.0	4345	COLON	-	-	-	-	DPH7	uc004cnk.1,p.G284R|NM_138778,p.G284R|ENST00000277540,p.G284R|uc010ncl.1,p.G45R|uc004cnj.1,p.G13R|uc004cnm.1,p.G45R	protein_coding, processed_transcript	uc010ncl.1	nonsynonymous SNV	exon3	c.G133C	p.G45R	MKQPLADTPVQGGVWRIKWHPFHHH	MKQPLADTPVQGRVWRIKWHPFHHH	7.0	7.0	-	-	4345_9:140458985-140458985 C>G_MKQPLADTPVQGRVWRIKWHPFHHH
10:103371166-103371166 G>C	1.0	4345	COLON	-	-	-	-	FBXW4	uc001kto.3,p.A374G|NM_022039,p.A374G|ENST00000331272,p.A374G	protein_coding, processed_transcript	uc001kto.3	nonsynonymous SNV	exon9	c.C1121G	p.A374G	RLWDRRQRACLHAFPLTSTPLSSPV	RLWDRRQRACLHGFPLTSTPLSSPV	8.0	8.0	-	-	4345_10:103371166-103371166 G>C_RLWDRRQRACLHGFPLTSTPLSSPV
17:27238156-27238156 A>C	0.0	4345	COLON	-	-	-	-	PHF12	ENST00000579036,p.L217R|ENST00000577226,p.L730R|NM_001290131,p.L730R|uc002hdi.1,p.L726R|NM_001033561,p.L730R|uc010wbb.1,p.L712R|uc002hdg.1,p.L730R|uc002hdh.1,p.L513R|ENST00000332830,p.L730R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wbb.1	nonsynonymous SNV	exon9	c.T2135G	p.L712R	ANSTAMVDLTNSLRAFMDVNGEIEI	ANSTAMVDLTNSRRAFMDVNGEIEI	9.0	1.0	-	-	4345_17:27238156-27238156 A>C_ANSTAMVDLTNSRRAFMDVNGEIEI
12:25398281-25398281 C>T	1.0	4345	COLON	-	-	ID=COSM1140132,COSM532;OCCURENCE=103(haematopoietic_and_lymphoid_tissue),2(pleura),5(cervix),17(gastrointestinal_tract_(site_indeterminate)),2(peritoneum),118(lung),23(thyroid),1(bone),4(upper_aerodigestive_tract),3(oesophagus),1(central_nervous_system),43(stomach),29(pancreas),3(liver),5(urinary_tract),1(genital_tract),3337(large_intestine),21(biliary_tract),23(prostate),17(breast),3(skin),19(small_intestine),50(endometrium),35(ovary),36(soft_tissue)	1	KRAS	ENST00000556131,p.G13D|NM_004985,p.G13D|uc001rgp.1,p.G13D|uc001rgq.1,p.G13D|NM_033360,p.G13D|ENST00000256078,p.G13D|ENST00000557334,p.G13D|ENST00000311936,p.G13D	protein_coding	uc001rgq.1	nonsynonymous SNV	exon2	c.G38A	p.G13D	MTEYKLVVVGAGGVGKSALTIQLIQ	MTEYKLVVVGAGDVGKSALTIQLIQ	6.0	10.0	-	-	4345_12:25398281-25398281 C>T_MTEYKLVVVGAGDVGKSALTIQLIQ
8:145541651-145541651 A>C	0.0	4345	COLON	-	-	-	-	DGAT1	uc003zbv.3,p.L261V|NM_012079,p.L261V|ENST00000332324,p.L261V	retained_intron, protein_coding, processed_transcript	uc003zbv.3	nonsynonymous SNV	exon9	c.T781G	p.L261V	YRDLYYFLFAPTLCYELNFPRSPRI	YRDLYYFLFAPTVCYELNFPRSPRI	9.0	1.0	-	-	4345_8:145541651-145541651 A>C_YRDLYYFLFAPTVCYELNFPRSPRI
17:61957720-61957720 G>C	0.0	4345	COLON	-	rs41295257	ID=COSM1522050;OCCURENCE=1(lung)	-	GH2	uc002jcm.2,p.S204W|NM_022558,p.S204W|ENST00000456543,p.S204W	protein_coding	uc002jcm.2	nonsynonymous SNV	exon5	c.C611G	p.S204W	GRTWTRSRHSCASCSAALWRAAVAS	GRTWTRSRHSCAWCSAALWRAAVAS	1.0	10.0	unscreened	-	4345_17:61957720-61957720 G>C_GRTWTRSRHSCAWCSAALWRAAVAS
15:74924981-74924981 T>G	0.0	4345	COLON	-	-	-	-	EDC3	uc002aym.3,p.K500T|ENST00000315127,p.K500T|NM_001142444,p.K500T|NM_025083,p.K500T|ENST00000426797,p.K500T|NM_001142443,p.K500T|uc002ayo.3,p.K500T|ENST00000568176,p.K500T|uc002ayn.3,p.K500T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ayo.3	nonsynonymous SNV	exon8	c.A1499C	p.K500T	EVGINYHSPFGCKFVIPLHSA	EVGINYHSPFGCTFVIPLHSA	8.0	4.0	-	-	4345_15:74924981-74924981 T>G_EVGINYHSPFGCTFVIPLHSA
20:30897642-30897642 G>A	1.0	4345	COLON	-	-	-	-	KIF3B	uc010ztv.2,p.G21D|uc010ztw.2,p.G21D|uc002wxq.3,p.G21D|ENST00000375712,p.G21D|NM_004798,p.G21D	protein_coding	uc010ztw.2	nonsynonymous SNV	exon1	c.G62A	p.G21D	SVRVVVRCRPMNGKEKAASYDKVVD	SVRVVVRCRPMNDKEKAASYDKVVD	7.0	9.0	-	-	4345_20:30897642-30897642 G>A_SVRVVVRCRPMNDKEKAASYDKVVD
4:146560334-146560334 G>A	0.0	4345	COLON	-	-	ID=COSM367366;OCCURENCE=1(lung)	-	MMAA	ENST00000511969,p.G15S|NM_172250,p.G15S|ENST00000281317,p.G15S|uc003ikh.4,p.G15S	retained_intron, protein_coding, nonsense_mediated_decay	uc003ikh.4	nonsynonymous SNV	exon2	c.G43A	p.G15S	MLLPHPHQHFLKGLLRAPFRCYHFI	MLLPHPHQHFLKSLLRAPFRCYHFI	6.0	8.0	-	-	4345_4:146560334-146560334 G>A_MLLPHPHQHFLKSLLRAPFRCYHFI
21:47552443-47552443 C>T	0.0	4345	COLON	-	-	-	-	COL6A2	ENST00000300527,p.R1013C|NM_001849,p.R1013C|uc002zia.1,p.R1013C	retained_intron, protein_coding, processed_transcript	uc002zia.1	nonsynonymous SNV	exon28	c.C3037T	p.R1013C	DYDSLAQPGFFDRFIRWIC	DYDSLAQPGFFDCFIRWIC	10.0	9.0	-	-	4345_21:47552443-47552443 C>T_DYDSLAQPGFFDCFIRWIC
9:123165097-123165097 T>C	0.0	4345	COLON	-	-	-	-	CDK5RAP2	uc011lxw.3,p.E1030G|ENST00000416449,p.E1159G|ENST00000349780,p.E1765G|uc010mvi.3,p.E774G|NM_001011649,p.E1686G|NM_018249,p.E1765G|uc004bkg.4,p.E1686G|NM_001272039,p.E1535G|ENST00000359309,p.E1724G|uc011lxz.3,p.E1030G|uc011lya.3,p.E1030G|ENST00000425647,p.E775G|uc004bkf.4,p.E1765G|uc004bkh.2,p.E1535G|ENST00000360822,p.E1733G|uc004bke.3,p.E1050G|ENST00000360190,p.E1686G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011lya.3	nonsynonymous SNV	exon34	c.A3089G	p.E1030G	IQTQEAPSSTSQELGTKGPHPAPLS	IQTQEAPSSTSQGLGTKGPHPAPLS	9.0	2.0	-	-	4345_9:123165097-123165097 T>C_IQTQEAPSSTSQGLGTKGPHPAPLS
11:73020968-73020968 C>T	0.0	4345	COLON	-	-	ID=COSM1356871;OCCURENCE=1(large_intestine)	-	ARHGEF17	ENST00000263674,p.R429W|NM_014786,p.R429W|uc001otu.3,p.R429W	retained_intron, protein_coding, processed_transcript	uc001otu.3	nonsynonymous SNV	exon1	c.C1285T	p.R429W	RSPSFGAGEGLLRSQARTRAKGPGG	RSPSFGAGEGLLWSQARTRAKGPGG	5.0	8.0	-	-	4345_11:73020968-73020968 C>T_RSPSFGAGEGLLWSQARTRAKGPGG
8:66516813-66516813 A>T	1.0	4345	COLON	-	-	-	-	ARMC1	ENST00000458464,p.V120D|uc011leo.2,p.V120D|ENST00000276569,p.V222D|NM_018120,p.V222D|uc003xvl.3,p.V222D|NM_001286702,p.V120D	protein_coding, processed_transcript, nonsense_mediated_decay	uc011leo.2	nonsynonymous SNV	exon6	c.T359A	p.V120D	QVVKSESGEEMLVPFQDTPVEVEQN	QVVKSESGEEMLDPFQDTPVEVEQN	8.0	1.0	-	-	4345_8:66516813-66516813 A>T_QVVKSESGEEMLDPFQDTPVEVEQN
5:150090879-150090879 T>G	1.0	4345	COLON	-	-	-	-	DCTN4	ENST00000447998,p.K405N|NM_016221,p.K405N|NM_001135643,p.K412N|uc003lsv.3,p.K405N|uc003lsu.3,p.K348N|uc010jhi.3,p.K412N|NM_001135644,p.K348N|ENST00000424236,p.K348N|ENST00000446090,p.K412N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jhi.3	nonsynonymous SNV	exon14	c.A1236C	p.K412N	AFRKANKVGIFIKVTPQREEGEVTV	AFRKANKVGIFINVTPQREEGEVTV	8.0	3.0	-	-	4345_5:150090879-150090879 T>G_AFRKANKVGIFINVTPQREEGEVTV
19:38573527-38573527 A>C	1.0	4345	COLON	-	-	-	-	SIPA1L3	ENST00000222345,p.N441T|NM_015073,p.N441T|uc002ohk.3,p.N441T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002ohk.3	nonsynonymous SNV	exon3	c.A1322C	p.N441T	HFRNEIGGECERNVSFSRASVGSPS	HFRNEIGGECERTVSFSRASVGSPS	7.0	5.0	-	-	4345_19:38573527-38573527 A>C_HFRNEIGGECERTVSFSRASVGSPS
10:14050072-14050072 C>T	0.0	4345	COLON	-	-	-	-	FRMD4A	uc001imu.1,p.R27H|ENST00000342409,p.R27H	protein_coding, processed_transcript	uc001imu.1	nonsynonymous SNV	exon1	c.G80A	p.R27H	LLLKIPYGSLRRRSVERMTEGRRCQ	LLLKIPYGSLRRHSVERMTEGRRCQ	6.0	10.0	-	-	4345_10:14050072-14050072 C>T_LLLKIPYGSLRRHSVERMTEGRRCQ
16:72830867-72830867 G>A	1.0	4345	COLON	-	-	-	1	ZFHX3	NM_001164766,p.P991L|NM_006885,p.P1905L|ENST00000268489,p.P1905L|ENST00000397992,p.P991L|uc002fck.3,p.P1905L|uc002fcl.3,p.P991L	retained_intron, protein_coding	uc002fcl.3	nonsynonymous SNV	exon8	c.C2972T	p.P991L	RDSAEGGEGNTGPKETLPDALKAKE	RDSAEGGEGNTGLKETLPDALKAKE	6.0	10.0	-	-	4345_16:72830867-72830867 G>A_RDSAEGGEGNTGLKETLPDALKAKE
13:33327484-33327484 A>C	0.0	4345	COLON	-	-	-	-	PDS5B	uc010abf.3,p.Q917H|ENST00000450460,p.Q917H|ENST00000315596,p.Q917H|NM_015032,p.Q917H	retained_intron, protein_coding, nonsense_mediated_decay	uc010abf.3	nonsynonymous SNV	exon25	c.A2751C	p.Q917H	QLCALAINDECYQVRQVFAQKLHKG	QLCALAINDECYHVRQVFAQKLHKG	9.0	2.0	-	-	4345_13:33327484-33327484 A>C_QLCALAINDECYHVRQVFAQKLHKG
9:36191204-36191204 G>A	1.0	4345	COLON	-	-	-	-	CLTA	ENST00000396603,p.A51T|NM_001184761,p.A51T|ENST00000538225,p.A51T|uc003zzd.3,p.A51T|uc011lpk.2,p.A51T|uc003zzc.3,p.A51T|ENST00000464497,p.A51T|NM_007096,p.A51T|ENST00000470744,p.A51T|ENST00000493185,p.A15T|ENST00000345519,p.A51T|uc003zze.3,p.A51T|NM_001184760,p.A51T|NM_001076677,p.A51T|ENST00000242285,p.A51T|ENST00000466396,p.A51T|NM_001184762,p.A51T|ENST00000433436,p.A51T|uc022bgp.1,p.A51T|ENST00000540080,p.A51T|NM_001833,p.A51T|uc022bgo.1,p.A51T	protein_coding, processed_transcript, nonsense_mediated_decay	uc022bgp.1	nonsynonymous SNV	exon1	c.G151A	p.A51T	QESEIAGIENDEAFAILDGGAPGPQ	QESEIAGIENDETFAILDGGAPGPQ	10.0	4.0	-	-	4345_9:36191204-36191204 G>A_QESEIAGIENDETFAILDGGAPGPQ
16:30775623-30775623 A>C	1.0	4345	COLON	-	-	-	-	RNF40	NM_001207034,p.K189T|ENST00000357890,p.K189T|uc002dzq.3,p.K189T|ENST00000324685,p.K189T|ENST00000563683,p.K189T|uc010caa.3,p.K189T|uc002dzr.3,p.K189T|NM_014771,p.K189T|NM_001286572,p.K189T|NM_001207033,p.K189T|uc010cab.3,p.K189T	retained_intron, protein_coding, processed_transcript	uc010cab.3	nonsynonymous SNV	exon5	c.A566C	p.K189T	VELELQGRMEFSKAAVSRVVEASDR	VELELQGRMEFSTAAVSRVVEASDR	9.0	3.0	-	-	4345_16:30775623-30775623 A>C_VELELQGRMEFSTAAVSRVVEASDR
16:30486883-30486883 ->ACAGATGGA	0.0	4345	COLON	-	-	-	-	ITGAL	NM_001114380,p.P103delinsPTDG|uc002dyj.4,p.P103delinsPTDG|ENST00000564118,p.P103delinsPTDG|ENST00000358164,p.P103delinsPTDG	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dyj.4	nonframeshift insertion	exon4	c.309_310insACAGATGGA	p.P103delinsPTDG	TSKYLGMTLATDPTDGSILFAAVQF	TSKYLGMTLATDPTDGTDGSILFAAVQF	6.0	8.0	unscreened	-	4345_16:30486883-30486883 ->ACAGATGGA_TSKYLGMTLATDPTDGTDGSILFAAVQF
1:109465046-109465046 G>C	1.0	4345	COLON	-	-	-	-	GPSM2	NM_013296,p.S483T|uc010ove.1,p.S483T|uc010ovc.2,p.S483T|ENST00000264126,p.S483T|ENST00000406462,p.S483T|uc010ovd.2,p.S483T	protein_coding	uc010ove.1	nonsynonymous SNV	exon13	c.G1448C	p.S483T	IDHRIPNSQRKISADTIGDEGFFDL	IDHRIPNSQRKITADTIGDEGFFDL	9.0	8.0	-	-	4345_1:109465046-109465046 G>C_IDHRIPNSQRKITADTIGDEGFFDL
16:53691499-53691499 C>A	1.0	4345	COLON	-	-	-	-	RPGRIP1L	uc010vgy.2,p.V483L|ENST00000563746,p.V483L|uc010cbx.3,p.V483L|NM_001127897,p.V483L|ENST00000379925,p.V483L|NM_015272,p.V483L|ENST00000564374,p.V483L|ENST00000262135,p.V483L|uc002eho.4,p.V483L|uc002ehp.3,p.V483L|uc010vgz.1,p.V483L	retained_intron, protein_coding, processed_transcript	uc010vgz.1	nonsynonymous SNV	exon13	c.G1447T	p.V483L	EQKNGDLSFLVKVDSEINKDLERSM	EQKNGDLSFLVKLDSEINKDLERSM	6.0	10.0	-	-	4345_16:53691499-53691499 C>A_EQKNGDLSFLVKLDSEINKDLERSM
1:145562584-145562584 C>T	0.0	4345	COLON	-	-	ID=COSM895209;OCCURENCE=1(endometrium)	-	ANKRD35	uc001eob.1,p.R758W|NM_144698,p.R758W|uc010oyx.1,p.R601W|ENST00000355594,p.R758W|NM_001280799,p.R668W	protein_coding	uc010oyx.1	nonsynonymous SNV	exon9	c.C1801T	p.R601W	VLARLQEENQQLRGSLSPCREPGTS	VLARLQEENQQLWGSLSPCREPGTS	2.0	10.0	unscreened	-	4345_1:145562584-145562584 C>T_VLARLQEENQQLWGSLSPCREPGTS
22:31495831-31495831 T>G	1.0	4345	COLON	-	-	-	-	SMTN	ENST00000347557,p.L851R|uc003ajl.2,p.L851R|uc003ajm.2,p.L851R|uc010gwe.2,p.L231R|NM_134270,p.L851R|uc003ajk.2,p.L851R|ENST00000404574,p.L374R|ENST00000358743,p.L851R|uc003ajn.2,p.L874R|NM_134269,p.L851R|uc003ajo.2,p.L374R|NM_006932,p.L851R|NM_001207017,p.L936R|uc011alf.2,p.L907R|ENST00000333137,p.L851R|uc011alg.2,p.L307R|uc011ale.2,p.L936R|NM_001207018,p.L907R	retained_intron, protein_coding, processed_transcript	uc011alg.2	nonsynonymous SNV	exon9	c.T920G	p.L307R	HNFFPEAFDYGQLSPQNRRQNFEVA	HNFFPEAFDYGQRSPQNRRQNFEVA	10.0	5.0	-	-	4345_22:31495831-31495831 T>G_HNFFPEAFDYGQRSPQNRRQNFEVA
6:139583895-139583895 G>A	0.0	4345	COLON	-	-	ID=COSM461890;OCCURENCE=1(cervix)	-	TXLNB	uc021zfy.1,p.R235W|NM_153235,p.R235W|ENST00000358430,p.R235W	protein_coding	uc021zfy.1	nonsynonymous SNV	exon5	c.C703T	p.R235W	RHNKTLKEEALQRAREEEEKRKEIT	RHNKTLKEEALQWAREEEEKRKEIT	2.0	9.0	unscreened	-	4345_6:139583895-139583895 G>A_RHNKTLKEEALQWAREEEEKRKEIT
15:55965785-55965785 G>A	0.0	4345	COLON	-	-	ID=COSM1373635;OCCURENCE=1(large_intestine)	-	PRTG	NM_173814,p.R546W|uc002adg.3,p.R546W|uc002adh.3,p.R48W|ENST00000561465,p.R81W|ENST00000389286,p.R546W	retained_intron, protein_coding, TEC	uc002adh.3	nonsynonymous SNV	exon2	c.C142T	p.R48W	LISWLPIPAKYRRGQVVLYRLSFRL	LISWLPIPAKYRWGQVVLYRLSFRL	3.0	10.0	unscreened	-	4345_15:55965785-55965785 G>A_LISWLPIPAKYRWGQVVLYRLSFRL
1:162724562-162724562 A>G	0.0	4345	COLON	-	-	-	1	DDR2	ENST00000415555,p.I112V|uc001gcg.3,p.I112V|uc001gcf.3,p.I112V|ENST00000367921,p.I112V|ENST00000446985,p.I112V|NM_001014796,p.I112V|NM_006182,p.I112V|ENST00000367922,p.I112V	protein_coding	uc001gcg.3	nonsynonymous SNV	exon5	c.A334G	p.I112V	VGTQGRHAGGHGIEFAPMYKINYSR	VGTQGRHAGGHGVEFAPMYKINYSR	6.0	1.0	-	-	4345_1:162724562-162724562 A>G_VGTQGRHAGGHGVEFAPMYKINYSR
9:108467995-108467995 T>A	0.0	4345	COLON	-	-	-	-	TMEM38B	ENST00000434214,p.L23H|uc010mtn.2,p.L77H|uc004bcu.2,p.L77H|ENST00000374688,p.L23H|NM_018112,p.L77H|ENST00000374692,p.L77H	protein_coding	uc010mtn.2	nonsynonymous SNV	exon2	c.T230A	p.L77H	SCLLLAEPPLKFLANHTNILLASSI	SCLLLAEPPLKFHANHTNILLASSI	7.0	7.0	-	-	4345_9:108467995-108467995 T>A_SCLLLAEPPLKFHANHTNILLASSI
1:203014647-203014647 C>T	1.0	4345	COLON	-	-	-	-	TMEM183A,PPFIA4	uc009xaj.3,p.S420L|ENST00000447715,p.S273L|ENST00000367240,p.S273L	retained_intron, protein_coding, processed_transcript	uc009xaj.3	nonsynonymous SNV	exon11	c.C1259T	p.S420L	EDLGTARRDLIKSEELSSKHQRDLR	EDLGTARRDLIKLEELSSKHQRDLR	7.0	10.0	-	-	4345_1:203014647-203014647 C>T_EDLGTARRDLIKLEELSSKHQRDLR
11:66625319-66625319 C>G	1.0	4345	COLON	-	-	-	-	LRFN4	uc001ojr.3,p.A35G|uc001ojq.1,p.A35G|ENST00000309602,p.A35G|NM_024036,p.A35G|ENST00000393952,p.A35G	protein_coding, processed_transcript	uc001ojr.3	nonsynonymous SNV	exon1	c.C104G	p.A35G	CQNLSESLSTLCAHRGLLFVPPNVD	CQNLSESLSTLCGHRGLLFVPPNVD	6.0	2.0	-	-	4345_11:66625319-66625319 C>G_CQNLSESLSTLCGHRGLLFVPPNVD
20:2380336-2380336 C>T	0.0	4345	COLON	-	-	-	-	TGM6	uc010gal.1,p.P268S|ENST00000381423,p.P268S|uc002wfy.1,p.P268S|NM_198994,p.P268S|NM_001254734,p.P268S|ENST00000202625,p.P268S	protein_coding, processed_transcript	uc010gal.1	nonsynonymous SNV	exon6	c.C802T	p.P268S	AILQKWLKGRYKPVKYGQCWVFAGV	AILQKWLKGRYKSVKYGQCWVFAGV	1.0	9.0	unscreened	-	4345_20:2380336-2380336 C>T_AILQKWLKGRYKSVKYGQCWVFAGV
12:1993987-1993987 C>T	0.0	4345	COLON	-	-	-	-	CACNA2D4	uc009zdt.1,p.A326T|ENST00000444595,p.A407T|ENST00000382722,p.A407T|NM_172364,p.A407T|ENST00000585708,p.A343T|ENST00000585732,p.A323T|ENST00000587995,p.A407T|uc021qsx.1,p.A407T|ENST00000586184,p.A407T|ENST00000588077,p.A343T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qsx.1	nonsynonymous SNV	exon11	c.G1219A	p.A407T	LCNQAIMLISDGAVEDYEPVFEKYN	LCNQAIMLISDGTVEDYEPVFEKYN	5.0	8.0	-	-	4345_12:1993987-1993987 C>T_LCNQAIMLISDGTVEDYEPVFEKYN
16:21261309-21261309 A>C	1.0	4345	COLON	-	-	-	-	ANKS4B	ENST00000311620,p.K141T|uc010bwp.1,p.K141T|NM_145865,p.K141T	protein_coding	uc010bwp.1	nonsynonymous SNV	exon2	c.A422C	p.K141T	PKKVTRLKEQAQKNARRQIKECERL	PKKVTRLKEQAQTNARRQIKECERL	5.0	3.0	-	-	4345_16:21261309-21261309 A>C_PKKVTRLKEQAQTNARRQIKECERL
2:179397820-179397820 C>T	0.0	4345	COLON	-	-	-	-	TTN	NM_001267550,p.V34508I|uc031rqd.1,p.V32867I|ENST00000359218,p.V25568I|NM_001256850,p.V32867I|uc021vsz.2,p.V25635I|ENST00000342992,p.V31940I|NM_133437,p.V25635I|uc021vsy.2,p.V31940I|ENST00000342175,p.V25635I|NM_003319,p.V25443I|uc021vtb.2,p.V25443I|NM_133378,p.V31940I|ENST00000460472,p.V25443I|NM_133432,p.V25568I|uc031rqc.1,p.V34508I|uc021vta.2,p.V25568I	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon308	c.G98599A	p.V32867I	TQVAKEALREAAVLYKPAVSTKTVK	TQVAKEALREAAILYKPAVSTKTVK	4.0	8.0	unscreened	-	4345_2:179397820-179397820 C>T_TQVAKEALREAAILYKPAVSTKTVK
6:34803143-34803143 T>G	0.0	4345	COLON	-	-	-	-	UHRF1BP1	ENST00000452449,p.S248A|uc003oju.4,p.S248A|ENST00000192788,p.S248A|NM_017754,p.S248A	protein_coding	uc003oju.4	nonsynonymous SNV	exon7	c.T742G	p.S248A	FLLDDLLWVLTDSQLKAMMKYAESL	FLLDDLLWVLTDAQLKAMMKYAESL	5.0	1.0	-	-	4345_6:34803143-34803143 T>G_FLLDDLLWVLTDAQLKAMMKYAESL
16:27495532-27495532 T>C	0.0	4345	COLON	-	-	-	-	GTF3C1	NM_001520,p.K1334R|ENST00000561623,p.K1334R|uc002dov.2,p.K1334R|uc002dou.3,p.K1334R|ENST00000356183,p.K1334R|NM_001286242,p.K1334R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dov.2	nonsynonymous SNV	exon25	c.A4001G	p.K1334R	YIVKNPQAYLNYKVCLAEVYQDKAL	YIVKNPQAYLNYRVCLAEVYQDKAL	7.0	2.0	-	-	4345_16:27495532-27495532 T>C_YIVKNPQAYLNYRVCLAEVYQDKAL
20:36841569-36841569 G>A	0.0	4345	COLON	-	-	-	-	KIAA1755	uc002xhy.1,p.R1160W|ENST00000279024,p.R1160W|uc002xhx.1,p.R438W|NM_001029864,p.R1160W|uc002xhw.1,p.R215W|uc002xhv.1,p.R224W	retained_intron, protein_coding	uc002xhy.1	nonsynonymous SNV	exon14	c.C3478T	p.R1160W	PAREHLLATTFFRQQPPRQSQVPRL	PAREHLLATTFFWQQPPRQSQVPRL	4.0	8.0	unscreened	-	4345_20:36841569-36841569 G>A_PAREHLLATTFFWQQPPRQSQVPRL
1:37948442-37948442 T>C	0.0	4345	COLON	-	-	ID=COSM908991;OCCURENCE=1(endometrium)	-	ZC3H12A	uc001cbc.1,p.S139P|NM_025079,p.S344P|ENST00000373087,p.S344P|uc001cbb.4,p.S344P	protein_coding, processed_transcript	uc001cbc.1	nonsynonymous SNV	exon3	c.T415C	p.S139P	SVADELRANALLSPPRAPSKDKNGR	SVADELRANALLPPPRAPSKDKNGR	6.0	1.0	-	-	4345_1:37948442-37948442 T>C_SVADELRANALLPPPRAPSKDKNGR
1:225284824-225284824 T>G	0.0	4345	COLON	-	-	-	-	DNAH14	ENST00000430092,p.L1193R|NM_001373,p.L1193R|ENST00000439375,p.L1193R|ENST00000328556,p.L271R|uc001how.2,p.L1193R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001how.2	nonsynonymous SNV	exon22	c.T3578G	p.L1193R	IKGSPHIGPIKDLVNEWDQNLTLFS	IKGSPHIGPIKDRVNEWDQNLTLFS	7.0	2.0	-	-	4345_1:225284824-225284824 T>G_IKGSPHIGPIKDRVNEWDQNLTLFS
10:70056023-70056023 T>G	1.0	4345	COLON	-	-	-	-	PBLD	uc001jns.1,p.K95Q|uc001jnu.1,p.K95Q|uc001jnt.1,p.K95Q|NM_022129,p.K95Q|ENST00000309049,p.K95Q|ENST00000336578,p.K62Q|NM_001033083,p.K95Q|ENST00000358769,p.K95Q|ENST00000432941,p.K95Q|uc001jnr.1,p.K62Q	protein_coding, processed_transcript	uc001jnu.1	nonsynonymous SNV	exon4	c.A283C	p.K95Q	TLASAAVLFHKIKNMNSTLTFVTLS	TLASAAVLFHKIQNMNSTLTFVTLS	6.0	3.0	-	-	4345_10:70056023-70056023 T>G_TLASAAVLFHKIQNMNSTLTFVTLS
9:101980360-101980360 G>C	1.0	4345	COLON	-	-	-	-	ALG2	NM_033087,p.F369L|ENST00000319033,p.F276L|uc004azg.3,p.F276L|uc004azf.3,p.F369L|ENST00000476832,p.F369L	protein_coding, nonsense_mediated_decay	uc004azg.3	nonsynonymous SNV	exon3	c.C828G	p.F276L	VTGFLCEPDPVHFSEAIEKFIREPS	VTGFLCEPDPVHLSEAIEKFIREPS	7.0	4.0	-	-	4345_9:101980360-101980360 G>C_VTGFLCEPDPVHLSEAIEKFIREPS
2:210560048-210560048 G>T	0.0	4345	COLON	-	-	-	-	MAP2	ENST00000447185,p.D1048Y|ENST00000360351,p.D1052Y|NM_002374,p.D1052Y|uc002vdi.1,p.D1048Y|uc002vdc.1,p.D1052Y|uc002vde.1,p.D1052Y	retained_intron, protein_coding, processed_transcript	uc002vdi.1	nonsynonymous SNV	exon4	c.G3142T	p.D1048Y	FAVQGQLDVKISDFGQMASGLNIDD	FAVQGQLDVKISYFGQMASGLNIDD	6.0	8.0	-	-	4345_2:210560048-210560048 G>T_FAVQGQLDVKISYFGQMASGLNIDD
6:43475377-43475377 G>A	0.0	4345	COLON	-	-	-	-	LRRC73	NM_001012974,p.R233W|ENST00000372441,p.R233W|uc003ovk.2,p.R233W|uc031soq.1,p.R110W|uc003ovj.2,p.R42W|NM_001271882,p.R110W	protein_coding, processed_transcript	uc031soq.1	nonsynonymous SNV	exon5	c.C328T	p.R110W	LLDMVENYPTALRSLVLAENSISPE	LLDMVENYPTALWSLVLAENSISPE	3.0	9.0	unscreened	-	4345_6:43475377-43475377 G>A_LLDMVENYPTALWSLVLAENSISPE
2:196788342-196788342 T>G	0.0	4345	COLON	-	-	-	-	DNAH7	ENST00000312428,p.S1268R|uc002utj.4,p.S1268R|NM_018897,p.S1268R	retained_intron, protein_coding, processed_transcript	uc002utj.4	nonsynonymous SNV	exon23	c.A3802C	p.S1268R	KNISDDSDFEWLSQLRYYWQENHLE	KNISDDSDFEWLRQLRYYWQENHLE	4.0	2.0	unscreened	-	4345_2:196788342-196788342 T>G_KNISDDSDFEWLRQLRYYWQENHLE
17:19232098-19232098 T>C	0.0	4345	COLON	-	-	-	-	EPN2	ENST00000395628,p.S351P|NM_014964,p.S408P|ENST00000395626,p.S408P|NM_148921,p.S351P|uc010cql.1,p.S117P|uc002gve.4,p.S351P|ENST00000494192,p.S117P|ENST00000395618,p.S123P|uc002gvf.4,p.S123P|ENST00000571254,p.S344P|uc010vyo.2,p.S116P|uc010vyp.2,p.S344P|ENST00000395620,p.S351P|ENST00000347697,p.S351P|uc002gvj.3,p.S71P|uc002gvd.4,p.S408P|NM_001102664,p.S123P|ENST00000314728,p.S408P|uc010vyq.2,p.S345P|ENST00000575595,p.S116P|uc002gvh.1,p.S408P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vyq.2	nonsynonymous SNV	exon5	c.T1033C	p.S345P	PTGATAQSVPKNSDPWAASQQPASS	PTGATAQSVPKNPDPWAASQQPASS	7.0	7.0	-	Snp within 36 nucleotides, 17:19232078-19232078 T>C, residue 6 V>A	4345_17:19232098-19232098 T>C_PTGATAQSVPKNPDPWAASQQPASS
9:138642827-138642827 T>A	0.0	4345	COLON	-	-	-	-	KCNT1	ENST00000298480,p.L125H|ENST00000486577,p.L86H|ENST00000473941,p.L72H|NM_020822,p.L125H|ENST00000263604,p.L106H|ENST00000490355,p.L106H|uc011mdq.2,p.L125H|ENST00000488444,p.L106H|uc010nbf.3,p.L77H|ENST00000491806,p.L92H|NM_001272003,p.L77H|ENST00000487664,p.L77H|ENST00000371757,p.L125H	retained_intron, protein_coding, nonsense_mediated_decay	uc011mdq.2	nonsynonymous SNV	exon4	c.T374A	p.L125H	LRIRLFNFSLKLLTCLLYIVRVLLD	LRIRLFNFSLKLHTCLLYIVRVLLD	3.0	6.0	unscreened	-	4345_9:138642827-138642827 T>A_LRIRLFNFSLKLHTCLLYIVRVLLD
17:16203274-16203274 A>C	1.0	4345	COLON	-	-	-	-	PIGL	uc002gpv.3,p.E136D|NM_004278,p.E136D|ENST00000395844,p.E136D|uc010vwd.2,p.E136D|ENST00000225609,p.E136D|ENST00000498772,p.E136D|ENST00000584797,p.E136D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010vwd.2	nonsynonymous SNV	exon3	c.A408C	p.E136D	TEHVARVLLQHIEVNGINLVVTFDA	TEHVARVLLQHIDVNGINLVVTFDA	9.0	5.0	-	-	4345_17:16203274-16203274 A>C_TEHVARVLLQHIDVNGINLVVTFDA
19:44778543-44778543 C>T	1.0	4345	COLON	-	-	-	-	ZNF233	ENST00000391958,p.S577L|uc002oyy.2,p.S392L|uc021uvi.1,p.S577L|uc002oyz.2,p.S577L|NM_181756,p.S577L|ENST00000334152,p.S559L|NM_001207005,p.S577L	protein_coding	uc021uvi.1	nonsynonymous SNV	exon5	c.C1730T	p.S577L	KCDVCGKGFSWSSHLQAHQRVHTGE	KCDVCGKGFSWSLHLQAHQRVHTGE	4.0	9.0	unscreened	-	4345_19:44778543-44778543 C>T_KCDVCGKGFSWSLHLQAHQRVHTGE
1:154996390-154996390 C>G	0.0	4345	COLON	-	-	-	-	DCST2	ENST00000368424,p.Q596H|NM_144622,p.Q596H|uc001fgm.3,p.Q596H|ENST00000485982,p.Q596H|ENST00000295536,p.Q596H	retained_intron, protein_coding, nonsense_mediated_decay	uc001fgm.3	nonsynonymous SNV	exon12	c.G1788C	p.Q596H	CLGPFVSHFWLHQAYCLGCGQPQDE	CLGPFVSHFWLHHAYCLGCGQPQDE	4.0	4.0	unscreened	-	4345_1:154996390-154996390 C>G_CLGPFVSHFWLHHAYCLGCGQPQDE
17:55195764-55195764 A>C	1.0	4345	COLON	-	-	-	-	AKAP1	uc010dcm.3,p.E841D|NM_003488,p.E841D|uc021uak.1,p.E841D|ENST00000539273,p.E841D|ENST00000337714,p.E841D|ENST00000572557,p.E841D|NM_001242903,p.E841D|uc010wnl.2,p.E841D|ENST00000571629,p.E841D|ENST00000575032,p.E130D|NM_001242902,p.E841D|uc002iux.3,p.E841D	protein_coding, nonsense_mediated_decay	uc021uak.1	nonsynonymous SNV	exon10	c.A2523C	p.E841D	VMPLSDDDQFSPEADAAMSEMTGNT	VMPLSDDDQFSPDADAAMSEMTGNT	10.0	1.0	-	-	4345_17:55195764-55195764 A>C_VMPLSDDDQFSPDADAAMSEMTGNT
13:23903559-23903559 A>C	0.0	4345	COLON	-	-	-	-	SACS	uc001uop.1,p.C537W|ENST00000423156,p.C374W|uc001uoq.1,p.C685W	protein_coding, processed_transcript	uc001uoq.1	nonsynonymous SNV	exon7	c.T2055G	p.C685W	GKLKMVAVLITSC	GKLKMVAVLITSW	4.0	2.0	-	-	4345_13:23903559-23903559 A>C_GKLKMVAVLITSW
11:70208417-70208417 G>C	1.0	4345	COLON	-	-	-	-	PPFIA1	NM_177423,p.W896C|uc001opo.3,p.W896C|NM_003626,p.W896C|ENST00000389547,p.W896C|ENST00000253925,p.W896C|uc001opn.2,p.W896C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001opo.3	nonsynonymous SNV	exon21	c.G2688C	p.W896C	VVWLELWVGMPAWYVAACRANVKSG	VVWLELWVGMPACYVAACRANVKSG	9.0	9.0	-	-	4345_11:70208417-70208417 G>C_VVWLELWVGMPACYVAACRANVKSG
21:32589954-32589954 G>A	0.0	4345	COLON	-	-	-	-	TIAM1	NM_003253,p.A686V|uc002yow.1,p.A686V|ENST00000541036,p.A686V|uc011adk.1,p.A686V|ENST00000286827,p.A686V|uc002yox.1,p.A294V|uc011adl.1,p.A686V	retained_intron, protein_coding, processed_transcript	uc011adl.1	nonsynonymous SNV	exon7	c.C2057T	p.A686V	GVRRRTQAMSRSASKRRSRFSSLWG	GVRRRTQAMSRSVSKRRSRFSSLWG	3.0	9.0	unscreened	-	4345_21:32589954-32589954 G>A_GVRRRTQAMSRSVSKRRSRFSSLWG
1:147087643-147087643 G>A	0.0	4345	COLON	-	-	-	1	BCL9	uc010ozr.1,p.V127I|ENST00000234739,p.V201I|NM_004326,p.V201I|uc001epq.3,p.V201I	protein_coding, processed_transcript	uc010ozr.1	nonsynonymous SNV	exon4	c.G379A	p.V127I	AEAVLKGQVETIVSFHIQNISNNKT	AEAVLKGQVETIISFHIQNISNNKT	6.0	2.0	-	-	4345_1:147087643-147087643 G>A_AEAVLKGQVETIISFHIQNISNNKT
13:28862222-28862222 G>T	1.0	4345	COLON	-	-	-	-	PAN3	uc001ury.3,p.W517L|uc001urz.3,p.W829L|ENST00000399613,p.W629L|ENST00000380958,p.W829L|ENST00000282391,p.W517L|uc001urx.3,p.W629L|NM_175854,p.W829L	retained_intron, protein_coding, processed_transcript	uc001urz.3	nonsynonymous SNV	exon18	c.G2486T	p.W829L	HLFHQVTEAGAPWIDLSHIISCLNK	HLFHQVTEAGAPLIDLSHIISCLNK	7.0	10.0	-	-	4345_13:28862222-28862222 G>T_HLFHQVTEAGAPLIDLSHIISCLNK
5:10280577-10280577 G>T	1.0	4345	COLON	-	-	-	-	CMBL	NM_138809,p.N242K|ENST00000296658,p.N242K|uc003jes.3,p.N242K	retained_intron, protein_coding, processed_transcript	uc003jes.3	nonsynonymous SNV	exon6	c.C726A	p.N242K	IDEARRNLIEWLNKYM	IDEARRNLIEWLKKYM	9.0	3.0	-	-	4345_5:10280577-10280577 G>T_IDEARRNLIEWLKKYM
22:26830108-26830108 C>T	0.0	4345	COLON	-	-	-	-	ASPHD2	ENST00000215906,p.T176M|uc003acg.2,p.T176M|NM_020437,p.T176M	protein_coding	uc003acg.2	nonsynonymous SNV	exon2	c.C527T	p.T176M	KPEVFFLPDLPTTPYFSRDAQKHDV	KPEVFFLPDLPTMPYFSRDAQKHDV	1.0	10.0	unscreened	-	4345_22:26830108-26830108 C>T_KPEVFFLPDLPTMPYFSRDAQKHDV
16:739282-739282 T>G	0.0	4345	COLON	-	-	-	-	WDR24	ENST00000248142,p.K182T|NM_032259,p.K120T|ENST00000293883,p.K120T|uc002ciz.1,p.K120T	retained_intron, protein_coding	uc002ciz.1	nonsynonymous SNV	exon1	c.A359C	p.K120T	SRNKQDQLFTEHKRTVNKVCFHPTE	SRNKQDQLFTEHTRTVNKVCFHPTE	5.0	5.0	-	-	4345_16:739282-739282 T>G_SRNKQDQLFTEHTRTVNKVCFHPTE
19:58846361-58846361 G>A	1.0	4345	COLON	-	-	-	-	ZSCAN22	NM_181846,p.E65K|ENST00000329665,p.E65K|uc010yhz.1,p.E65K|uc002qsc.2,p.E65K	protein_coding	uc010yhz.1	nonsynonymous SNV	exon1	c.G193A	p.E65K	RHFRYEEASGPHEALAHLRALCCQW	RHFRYEEASGPHKALAHLRALCCQW	4.0	9.0	unscreened	-	4345_19:58846361-58846361 G>A_RHFRYEEASGPHKALAHLRALCCQW
9:93636512-93636512 A>C	0.0	4345	COLON	-	-	-	1	SYK	NM_001135052,p.Q291H|ENST00000375751,p.Q291H|NM_001174168,p.Q291H|ENST00000375747,p.Q291H|uc004arb.3,p.Q291H|uc004ara.3,p.Q291H	protein_coding, processed_transcript	uc004arb.3	nonsynonymous SNV	exon7	c.A873C	p.Q291H	SHPASSPAQGNRQESTVSFNPYEPE	SHPASSPAQGNRHESTVSFNPYEPE	6.0	6.0	-	-	4345_9:93636512-93636512 A>C_SHPASSPAQGNRHESTVSFNPYEPE
9:93636512-93636512 A>C	0.0	4345	COLON	-	-	-	1	SYK	ENST00000375746,p.Q314H|NM_001174167,p.Q314H|ENST00000375754,p.Q314H|uc004aqz.3,p.Q314H|uc004arc.3,p.Q314H|NM_003177,p.Q314H	protein_coding, processed_transcript	uc004arc.3	nonsynonymous SNV	exon8	c.A942C	p.Q314H	GHRKSSPAQGNRQESTVSFNPYEPE	GHRKSSPAQGNRHESTVSFNPYEPE	6.0	6.0	-	-	4345_9:93636512-93636512 A>C_GHRKSSPAQGNRHESTVSFNPYEPE
3:119530438-119530438 G>T	1.0	4345	COLON	-	-	-	-	NR1I2	NM_022002,p.K167N|NM_003889,p.K128N|uc003edl.3,p.K16N|uc003edj.3,p.K128N|uc003edi.3,p.K128N|NM_033013,p.K128N|ENST00000466380,p.K128N|ENST00000337940,p.K167N|ENST00000393716,p.K128N|uc003edk.3,p.K167N	retained_intron, protein_coding	uc003edl.3	nonsynonymous SNV	exon1	c.G48T	p.K16N	EAVEERRALIKRKKSERTGTQPLGV	EAVEERRALIKRNKSERTGTQPLGV	9.0	10.0	-	-	4345_3:119530438-119530438 G>T_EAVEERRALIKRNKSERTGTQPLGV
10:121691654-121691654 A>G	0.0	4345	COLON	-	-	-	-	SEC23IP	ENST00000369075,p.E861G|uc001leu.2,p.E861G|NM_007190,p.E861G|uc010qtc.2,p.E650G|ENST00000543134,p.E650G	protein_coding, processed_transcript	uc010qtc.2	nonsynonymous SNV	exon15	c.A1949G	p.E650G	HKGRKRLHLELKESLSRMGSDLKQG	HKGRKRLHLELKGSLSRMGSDLKQG	9.0	4.0	-	-	4345_10:121691654-121691654 A>G_HKGRKRLHLELKGSLSRMGSDLKQG
21:35166772-35166772 G>C	0.0	4345	COLON	-	-	-	-	ITSN1	ENST00000399367,p.R651T|uc002ysw.3,p.R651T|uc002yta.1,p.R651T|ENST00000381318,p.R651T|ENST00000381285,p.R651T|uc002ysz.3,p.R651T|uc002ytb.1,p.R651T|ENST00000399353,p.R614T|uc010gmk.3,p.R614T|NM_001001132,p.R651T|ENST00000399326,p.R651T|NM_003024,p.R651T|ENST00000379960,p.R651T|ENST00000399355,p.R651T|uc021wip.1,p.R545T|uc002ysx.3,p.R614T|uc002ysy.3,p.R651T|uc010gmi.3,p.R614T|ENST00000399338,p.R651T|uc010gmj.3,p.R535T|ENST00000381291,p.R651T|ENST00000399349,p.R651T|ENST00000399352,p.R651T|uc002ytc.1,p.R651T|uc002ytj.2,p.R651T|uc010gmg.3,p.R614T|ENST00000437442,p.R651T|uc002yte.3,p.R585T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wip.1	nonsynonymous SNV	exon12	c.G1634C	p.R545T	IIELEKQKEEAQRRAQERDKQWLEH	IIELEKQKEEAQTRAQERDKQWLEH	8.0	7.0	-	-	4345_21:35166772-35166772 G>C_IIELEKQKEEAQTRAQERDKQWLEH
1:152326687-152326687 G>T	0.0	4345	COLON	-	-	-	-	FLG2	ENST00000388718,p.S1192Y|uc001ezw.4,p.S1192Y|NM_001014342,p.S1192Y	protein_coding	uc001ezw.4	nonsynonymous SNV	exon3	c.C3575A	p.S1192Y	GQHVSGSDNFSSSGQHISDSGQSTG	GQHVSGSDNFSSYGQHISDSGQSTG	1.0	10.0	unscreened	-	4345_1:152326687-152326687 G>T_GQHVSGSDNFSSYGQHISDSGQSTG
2:97217362-97217362 T>G	0.0	4345	COLON	-	-	-	-	ARID5A	uc002swg.3,p.L314R|uc002swf.3,p.L202R|NM_212481,p.L366R|uc010yuq.2,p.L314R|uc002swe.3,p.L366R|ENST00000454558,p.L298R|uc031ron.1,p.L298R|ENST00000357485,p.L366R	retained_intron, protein_coding, nonsense_mediated_decay	uc031ron.1	nonsynonymous SNV	exon7	c.T893G	p.L298R	PVSQHPRDFFSRLKDGVLLGPPGKE	PVSQHPRDFFSRRKDGVLLGPPGKE	6.0	4.0	-	-	4345_2:97217362-97217362 T>G_PVSQHPRDFFSRRKDGVLLGPPGKE
6:121625511-121625511 T>G	0.0	4345	COLON	-	-	-	-	TBC1D32	ENST00000275159,p.K312T|uc003pyo.1,p.K312T|ENST00000398212,p.K312T|NM_152730,p.K312T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003pyo.1	nonsynonymous SNV	exon8	c.A935C	p.K312T	KEAPSFWIRHPEKYMEEIVESTLSL	KEAPSFWIRHPETYMEEIVESTLSL	6.0	6.0	-	-	4345_6:121625511-121625511 T>G_KEAPSFWIRHPETYMEEIVESTLSL
19:44933395-44933395 C>T	0.0	4345	COLON	-	-	-	-	ZNF229	uc010ejk.1,p.V175M|ENST00000588931,p.V521M|uc002oze.1,p.V521M|uc010ejl.1,p.V515M|NM_014518,p.V521M|NM_001278510,p.V515M|ENST00000291187,p.V515M	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ejl.1	nonsynonymous SNV	exon6	c.G1543A	p.V515M	RVHMGQHLYKCNVCGKSFSYSSGLL	RVHMGQHLYKCNMCGKSFSYSSGLL	2.0	10.0	unscreened	-	4345_19:44933395-44933395 C>T_RVHMGQHLYKCNMCGKSFSYSSGLL
14:77723017-77723017 C>T	0.0	4345	COLON	0.0009	-	ID=COSM470269;OCCURENCE=1(kidney)	-	TMEM63C	ENST00000298351,p.S790L|uc001xtf.2,p.S790L|NM_020431,p.S790L|uc010asq.1,p.S790L	retained_intron, protein_coding	uc010asq.1	nonsynonymous SNV	exon24	c.C2369T	p.S790L	ESGLRGFARELDSAQFQEGLELEGQ	ESGLRGFARELDLAQFQEGLELEGQ	5.0	9.0	unscreened	-	4345_14:77723017-77723017 C>T_ESGLRGFARELDLAQFQEGLELEGQ
15:86790914-86790914 G>A	0.0	4345	COLON	-	-	-	-	AGBL1	ENST00000421325,p.R134H|NM_152336,p.R134H|uc002blz.1,p.R134H|ENST00000441037,p.R134H	retained_intron, protein_coding	uc002blz.1	nonsynonymous SNV	exon6	c.G401A	p.R134H	VLAALLKSKSNGRRAVNRGYVTSLL	VLAALLKSKSNGHRAVNRGYVTSLL	3.0	10.0	unscreened	-	4345_15:86790914-86790914 G>A_VLAALLKSKSNGHRAVNRGYVTSLL
5:100147675-100147675 T>A	0.0	4345	COLON	-	-	-	-	ST8SIA4	NM_005668,p.D319V|uc003knk.3,p.D319V|ENST00000231461,p.D319V	protein_coding, processed_transcript, nonsense_mediated_decay	uc003knk.3	nonsynonymous SNV	exon5	c.A956T	p.D319V	LNGKAVKYHYYDDLKYRYFSNASPH	LNGKAVKYHYYDVLKYRYFSNASPH	4.0	10.0	-	-	4345_5:100147675-100147675 T>A_LNGKAVKYHYYDVLKYRYFSNASPH
5:79282875-79282875 G>A	1.0	4345	COLON	0.0037	-	-	-	MTX3	ENST00000509852,p.R213W|uc003kge.4,p.R152W|uc010jah.3,p.R213W|NM_001167741,p.R152W|ENST00000512560,p.R152W|NM_001010891,p.R213W|uc010jag.3,p.R213W|ENST00000512528,p.R213W	protein_coding	uc010jah.3	nonsynonymous SNV	exon7	c.C637T	p.R213W	YVFGFLAPLYKVRFPKVQLQEHLKQ	YVFGFLAPLYKVWFPKVQLQEHLKQ	4.0	3.0	-	-	4345_5:79282875-79282875 G>A_YVFGFLAPLYKVWFPKVQLQEHLKQ
14:74360572-74360572 A>-	1.0	4345	COLON	-	-	-	-	ZNF410	ENST00000540593,p.I36fs|uc001xoz.2,p.I36fs|uc010arz.2,p.I36fs|ENST00000555044,p.I36fs|ENST00000398139,p.I36fs|ENST00000324593,p.I36fs|NM_021188,p.I36fs|NM_001242927,p.I36fs|uc001xpb.2,p.I36fs|ENST00000557495,p.I43fs|ENST00000556396,p.I36fs|ENST00000556160,p.I36fs|ENST00000554797,p.I36fs|ENST00000442160,p.I36fs|ENST00000554582,p.I36fs|NM_001242924,p.I36fs|uc010tuh.2,p.I36fs|ENST00000556659,p.I36fs|NM_001242926,p.I36fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010tuh.2	frameshift deletion	exon3	c.106delA	p.I36fs	LGQGLVESEAKDITCLSLLPVTEASE	LGQGLVESEAKDLLACPSFP	9.0	3.0	-	-	4345_14:74360572-74360572 A>-_LGQGLVESEAKDLLACPSFP
2:207625654-207625654 T>C	0.0	4345	COLON	-	-	-	-	MDH1B	ENST00000392214,p.K36E|uc010fui.3,p.K36E|NM_001282940,p.K36E|ENST00000454776,p.K36E|ENST00000374412,p.K36E|NM_001039845,p.K36E|uc002vbs.3,p.K36E|ENST00000436472,p.K36E|ENST00000432911,p.K36E	retained_intron, protein_coding, nonsense_mediated_decay	uc010fui.3	nonsynonymous SNV	exon2	c.A106G	p.K36E	YLQKNLPDFRIHKITQRPEVWEDWL	YLQKNLPDFRIHEITQRPEVWEDWL	2.0	9.0	unscreened	-	4345_2:207625654-207625654 T>C_YLQKNLPDFRIHEITQRPEVWEDWL
2:215802250-215802250 G>A	0.0	4345	COLON	-	-	ID=COSM1691963;OCCURENCE=1(skin)	-	ABCA12	ENST00000272895,p.P2509L|uc002vew.3,p.P2509L|NM_015657,p.P2191L|ENST00000389661,p.P2191L|NM_173076,p.P2509L|uc002vev.3,p.P2191L|uc010zjn.2,p.P1436L	protein_coding	uc010zjn.2	nonsynonymous SNV	exon53	c.C4307T	p.P1436L	METLTKFMQLHFPKTYLKDQHLSML	METLTKFMQLHFLKTYLKDQHLSML	1.0	8.0	unscreened	-	4345_2:215802250-215802250 G>A_METLTKFMQLHFLKTYLKDQHLSML
6:74135166-74135166 T>G	0.0	4345	COLON	-	-	-	-	MB21D1	NM_138441,p.Q451H|uc003pgx.1,p.Q451H|ENST00000370315,p.Q451H	retained_intron, protein_coding	uc003pgx.1	nonsynonymous SNV	exon5	c.A1353C	p.Q451H	KTAFFHVCTQNPQDSQWDRKDLGLC	KTAFFHVCTQNPHDSQWDRKDLGLC	5.0	5.0	-	-	4345_6:74135166-74135166 T>G_KTAFFHVCTQNPHDSQWDRKDLGLC
9:39361343-39361343 A>C	0.0	4345	COLON	-	-	-	-	SPATA31A1	ENST00000377647,p.K1194T|uc004abm.3,p.K1194T|NM_001085452,p.K1208T	protein_coding, processed_transcript	uc004abm.3	nonsynonymous SNV	exon4	c.A3581C	p.K1194T	PAPVTAESQKTVKNRSCVYSSSAEA	PAPVTAESQKTVTNRSCVYSSSAEA	4.0	8.0	unscreened	-	4345_9:39361343-39361343 A>C_PAPVTAESQKTVTNRSCVYSSSAEA
15:41862348-41862348 G>A	1.0	4345	COLON	-	-	-	-	TYRO3	ENST00000559066,p.R414Q|NM_006293,p.R459Q|ENST00000263798,p.R459Q|uc001zof.2,p.R459Q	retained_intron, protein_coding, nonsense_mediated_decay	uc001zof.2	nonsynonymous SNV	exon10	c.G1376A	p.R459Q	ALILLRKRRKETRFGQAFDSVMARG	ALILLRKRRKETQFGQAFDSVMARG	7.0	8.0	-	-	4345_15:41862348-41862348 G>A_ALILLRKRRKETQFGQAFDSVMARG
1:3680000-3680000 A>C	0.0	4345	COLON	-	-	-	-	CCDC27	NM_152492,p.N428T|ENST00000294600,p.N428T|uc001akv.2,p.N428T	protein_coding, nonsense_mediated_decay	uc001akv.2	nonsynonymous SNV	exon7	c.A1283C	p.N428T	EEYEQVILDFQFNLEATRTRYSLAT	EEYEQVILDFQFTLEATRTRYSLAT	1.0	4.0	unscreened	-	4345_1:3680000-3680000 A>C_EEYEQVILDFQFTLEATRTRYSLAT
11:51515352-51515352 T>C	0.0	4345	COLON	-	-	-	-	OR4C46	NM_001004703,p.I24T|ENST00000328188,p.I24T|uc010ric.2,p.I24T	protein_coding	uc010ric.2	nonsynonymous SNV	exon1	c.T71C	p.I24T	LLGLTENPKMQKIIFVVFFVIYIIT	LLGLTENPKMQKTIFVVFFVIYIIT	1.0	7.0	unscreened	-	4345_11:51515352-51515352 T>C_LLGLTENPKMQKTIFVVFFVIYIIT
3:101483736-101483736 A>C	0.0	4345	COLON	-	-	-	-	CEP97	uc003dvm.1,p.S485R|NM_024548,p.S647R|ENST00000327230,p.S673R|uc003dvl.1,p.S369R|ENST00000341893,p.S647R|uc003dvk.1,p.S647R|uc011bhf.1,p.S588R|ENST00000494050,p.S588R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bhf.1	nonsynonymous SNV	exon11	c.A1762C	p.S588R	LQVWQQTVDQRLSSWHTDVPPISST	LQVWQQTVDQRLRSWHTDVPPISST	5.0	3.0	-	-	4345_3:101483736-101483736 A>C_LQVWQQTVDQRLRSWHTDVPPISST
1:243736232-243736232 A>C	0.0	4345	COLON	-	-	-	2	AKT3	uc001hzz.1,p.L272R|uc021plu.1,p.L272R|NM_001206729,p.L272R|ENST00000336199,p.L272R|ENST00000263826,p.L272R|NM_005465,p.L272R|ENST00000366539,p.L272R|uc001iab.2,p.L272R|NM_181690,p.L272R|ENST00000366540,p.L272R	protein_coding, processed_transcript	uc021plu.1	nonsynonymous SNV	exon9	c.T815G	p.L272R	DYLHSGKIVYRDLKLENLMLDKDGH	DYLHSGKIVYRDRKLENLMLDKDGH	5.0	6.0	-	-	4345_1:243736232-243736232 A>C_DYLHSGKIVYRDRKLENLMLDKDGH
5:96112155-96112155 T>G	0.0	4345	COLON	-	-	-	-	ERAP1	NM_001040458,p.K924T|ENST00000296754,p.K924T|uc003kmn.3,p.K924T|ENST00000443439,p.K924T|NM_001198541,p.K924T|NM_016442,p.K924T|uc010jbm.2,p.K736T|uc003kmm.3,p.K924T|uc003kml.3,p.K924T	retained_intron, protein_coding, processed_transcript	uc010jbm.2	nonsynonymous SNV	exon18	c.A2207C	p.K736T	IETIEENIGWMDKNFDKIRVWLQSE	IETIEENIGWMDTNFDKIRVWLQSE	10.0	5.0	-	-	4345_5:96112155-96112155 T>G_IETIEENIGWMDTNFDKIRVWLQSE
10:112838970-112838970 T>G	0.0	4345	COLON	-	-	-	-	ADRA2A	NM_000681,p.F406V|ENST00000280155,p.F406V|uc001kzo.3,p.F406V	protein_coding	uc001kzo.3	nonsynonymous SNV	exon1	c.T1216G	p.F406V	VIGVFVVCWFPFFFTYTLTAVGCSV	VIGVFVVCWFPFVFTYTLTAVGCSV	3.0	3.0	unscreened	-	4345_10:112838970-112838970 T>G_VIGVFVVCWFPFVFTYTLTAVGCSV
X:134494656-134494656 A>C	0.0	4345	COLON	-	-	-	-	ZNF449	ENST00000339249,p.E404D|uc004eyt.3,p.E284D|uc004eyu.3,p.E210D|uc004eys.3,p.E404D|NM_152695,p.E404D	protein_coding	uc004eyu.3	nonsynonymous SNV	exon2	c.A630C	p.E210D	SHLIGHQRTHSEEETYKCLECGKSF	SHLIGHQRTHSEDETYKCLECGKSF	5.0	2.0	-	-	4345_X:134494656-134494656 A>C_SHLIGHQRTHSEDETYKCLECGKSF
17:61957720-61957720 G>C	0.0	4345	COLON	-	rs41295257	ID=COSM1522050;OCCURENCE=1(lung)	-	GH2	ENST00000449787,p.I190M|uc002jcn.2,p.I190M|uc002jco.2,p.I205M|NM_002059,p.I205M|ENST00000423893,p.I205M|NM_022556,p.I190M	protein_coding	uc002jco.2	nonsynonymous SNV	exon5	c.C615G	p.I205M	RKDMDKVETFLRIVQCRSVEGSCGF	RKDMDKVETFLRMVQCRSVEGSCGF	1.0	10.0	unscreened	-	4345_17:61957720-61957720 G>C_RKDMDKVETFLRMVQCRSVEGSCGF
1:47548114-47548114 A>C	0.0	4345	COLON	-	-	-	-	CYP4Z1	ENST00000334194,p.E158A|NM_178134,p.E158A|uc001cqu.1,p.E158A	protein_coding, processed_transcript	uc001cqu.1	nonsynonymous SNV	exon4	c.A473C	p.E158A	ISILKIFITMMSESVRMMLNKWEEH	ISILKIFITMMSASVRMMLNKWEEH	2.0	4.0	unscreened	-	4345_1:47548114-47548114 A>C_ISILKIFITMMSASVRMMLNKWEEH
12:58010100-58010100 A>T	0.0	4345	COLON	-	-	-	-	ARHGEF25	ENST00000286494,p.E485V|ENST00000333972,p.E524V|uc001spa.4,p.E379V|uc001spb.4,p.E485V|NM_182947,p.E485V|NM_001111270,p.E524V|uc009zpy.4,p.E524V	retained_intron, protein_coding, processed_transcript	uc009zpy.4	nonsynonymous SNV	exon15	c.A1571T	p.E524V	NALQSPIEYQRRESQTNSLGRPRGP	NALQSPIEYQRRVSQTNSLGRPRGP	5.0	5.0	-	-	4345_12:58010100-58010100 A>T_NALQSPIEYQRRVSQTNSLGRPRGP
14:105355868-105355868 G>T	1.0	4345	COLON	-	-	-	-	CEP170B	ENST00000556508,p.Q1182H|NM_015005,p.Q1182H|uc001yps.3,p.Q1182H|ENST00000453495,p.Q1253H	retained_intron, protein_coding	uc001yps.3	nonsynonymous SNV	exon12	c.G3546T	p.Q1182H	GSARYTSNTRRRQQGSDYTSTSEEE	GSARYTSNTRRRHQGSDYTSTSEEE	8.0	9.0	-	-	4345_14:105355868-105355868 G>T_GSARYTSNTRRRHQGSDYTSTSEEE
9:136224607-136224607 T>A	0.0	4345	COLON	-	-	-	-	SURF2	NM_001278928,p.L85H|NM_017503,p.L85H|ENST00000371964,p.L85H|uc004cdi.2,p.L85H	protein_coding, processed_transcript	uc004cdi.2	nonsynonymous SNV	exon3	c.T254A	p.L85H	PSTKNPHQLFCKLTLRHINKCPEHV	PSTKNPHQLFCKHTLRHINKCPEHV	7.0	5.0	-	-	4345_9:136224607-136224607 T>A_PSTKNPHQLFCKHTLRHINKCPEHV
2:141457963-141457963 G>A	0.0	4345	COLON	0.0005	-	-	1	LRP1B	NM_018557,p.R2219C|ENST00000389484,p.R2219C|uc002tvj.1,p.R2219C	protein_coding, processed_transcript	uc002tvj.1	nonsynonymous SNV	exon41	c.C6655T	p.R2219C	NLNSPIRPYENPRYFKNVIALAFDY	NLNSPIRPYENPCYFKNVIALAFDY	1.0	9.0	unscreened	-	4345_2:141457963-141457963 G>A_NLNSPIRPYENPCYFKNVIALAFDY
8:132052496-132052496 C>A	0.0	4345	COLON	-	-	-	-	ADCY8	ENST00000377928,p.R28S|uc010mds.3,p.R28S|NM_001115,p.R28S|ENST00000286355,p.R28S|uc003ytd.4,p.R28S	protein_coding	uc010mds.3	nonsynonymous SNV	exon1	c.G84T	p.R28S	YTIHPTPPAGDGRSASRPQRLLWQT	YTIHPTPPAGDGSSASRPQRLLWQT	2.0	1.0	unscreened	-	4345_8:132052496-132052496 C>A_YTIHPTPPAGDGSSASRPQRLLWQT
7:151078984-151078984 A>G	0.0	4345	COLON	-	-	-	-	WDR86	uc003wkb.2,p.F316L|ENST00000334493,p.F316L|uc003wka.2,p.F274L|NM_198285,p.F316L|NM_001284262,p.F188L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003wkb.2	nonsynonymous SNV	exon5	c.T946C	p.F316L	SGELRRVFRGHTFIINCIQVHGQVL	SGELRRVFRGHTLIINCIQVHGQVL	1.0	9.0	unscreened	-	4345_7:151078984-151078984 A>G_SGELRRVFRGHTLIINCIQVHGQVL
9:131193509-131193509 A>C, 9:131193515-131193515 A>C	0.0	4345	COLON	-	-	-	-	CERCAM	uc010mya.1,p.D218A|NM_016174,p.D377A|ENST00000372842,p.D299A|NM_001286760,p.D299A|ENST00000372838,p.D377A|uc004buy.1,p.D299A|uc004buz.4,p.D377A|uc010mxz.3,p.D299A	retained_intron, protein_coding, processed_transcript	uc010mya.1	nonsynonymous SNV	exon6	c.A653C	p.D218A	RNLGVDLLPGYQDPYSGRTLTKGEVGC	RNLGVDLLPGYQAPSSGRTLTKGEVGC	6.0	4.0	unscreened	Additional variant within 36 nucleotides, merged with 9:131193515-131193515 A>C	4345_9:131193509-131193509 A>C, 9:131193515-131193515 A>C_RNLGVDLLPGYQAPSSGRTLTKGEVGC
8:67488452-67488452 ->T	1.0	4345	COLON	-	-	-	-	MYBL1	uc003xwj.3,p.N420fs|NM_001080416,p.N420fs|uc003xwk.3,p.N419fs|uc003xwl.3,p.N420fs|NM_001294282,p.N419fs|NM_001144755,p.N420fs|ENST00000522677,p.N420fs|ENST00000524176,p.N420fs	retained_intron, protein_coding, processed_transcript	uc003xwl.3	frameshift insertion	exon10	c.1259dupA	p.N420fs	QFNVSLVLEGKKNTCNGGNSEAVPL	QFNVSLVLEGKKKHL	4.0	10.0	unscreened	-	4345_8:67488452-67488452 ->T_QFNVSLVLEGKKKHL
2:228235648-228235648 A>G	0.0	4345	COLON	-	-	-	-	TM4SF20	ENST00000304568,p.C78R|NM_024795,p.C78R|uc002vpb.2,p.C78R	protein_coding	uc002vpb.2	nonsynonymous SNV	exon2	c.T232C	p.C78R	TTMSLTARKRACCNNRTGMFLSSLF	TTMSLTARKRACRNNRTGMFLSSLF	4.0	4.0	unscreened	-	4345_2:228235648-228235648 A>G_TTMSLTARKRACRNNRTGMFLSSLF
3:127398985-127398985 T>C	0.0	4345	COLON	-	-	-	-	ABTB1	ENST00000468137,p.L254P|uc003ejt.3,p.L396P|ENST00000393363,p.L254P|NM_172027,p.L396P|uc010hsm.3,p.L123P|NM_032548,p.L254P|uc003eju.3,p.L254P|ENST00000453791,p.L254P|uc003ejr.3,p.L254P|ENST00000232744,p.L396P|uc003ejs.3,p.L371P	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010hsm.3	nonsynonymous SNV	exon4	c.T368C	p.L123P	VWRVAKLFRLARLEDQCTEYMAKVI	VWRVAKLFRLARPEDQCTEYMAKVI	7.0	6.0	-	-	4345_3:127398985-127398985 T>C_VWRVAKLFRLARPEDQCTEYMAKVI
6:139235887-139235889 CCT>-	0.0	4345	COLON	-	-	-	-	REPS1	NM_031922,p.576_577del|ENST00000415951,p.550_551del|ENST00000258062,p.576_577del|NM_001128617,p.550_551del|ENST00000529597,p.535_536del|uc011edr.2,p.576_577del|uc003qik.3,p.183_184del|uc003qig.4,p.550_551del|NM_001286611,p.577_578del|uc003qii.3,p.577_578del|ENST00000367663,p.550_551del|ENST00000450536,p.577_578del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011edr.2	nonframeshift deletion	exon15	c.1727_1729del	p.576_577del	MNRTFTVTTGQQQAGVVAHPPAVPPR	MNRTFTVTTGQQPGVVAHPPAVPPR	8.0	2.0	-	-	4345_6:139235887-139235889 CCT>-_MNRTFTVTTGQQPGVVAHPPAVPPR
14:105070957-105070957 A>G	0.0	4345	COLON	-	-	-	-	TMEM179	ENST00000556573,p.L41P|ENST00000341595,p.L41P|NM_001286390,p.L41P|uc001yox.1,p.L41P|ENST00000415614,p.L41P|NM_001286389,p.L41P	protein_coding	uc001yox.1	nonsynonymous SNV	exon1	c.T122C	p.L41P	SENGHDFRGRCLLFTEGMWLSANLT	SENGHDFRGRCLPFTEGMWLSANLT	1.0	7.0	unscreened	-	4345_14:105070957-105070957 A>G_SENGHDFRGRCLPFTEGMWLSANLT
11:103908365-103908365 G>T	0.0	4345	COLON	-	-	-	-	DDI1	uc001phr.2,p.C272F|NM_001001711,p.C272F|ENST00000302259,p.C272F	protein_coding	uc001phr.2	nonsynonymous SNV	exon1	c.G815T	p.C272F	DSGAQMTIMSQACAERCNIMRLVDR	DSGAQMTIMSQAFAERCNIMRLVDR	1.0	8.0	unscreened	-	4345_11:103908365-103908365 G>T_DSGAQMTIMSQAFAERCNIMRLVDR
6:139235887-139235889 CCT>-	0.0	4345	COLON	-	-	-	-	REPS1	ENST00000530255,p.100_101del|NM_001286612,p.486_487del|ENST00000409812,p.486_487del|uc003qij.3,p.486_487del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003qij.3	nonframeshift deletion	exon12	c.1457_1459del	p.486_487del	VKFASGNTVGQQQAGVVAHPPAVPPR	VKFASGNTVGQQPGVVAHPPAVPPR	8.0	2.0	-	-	4345_6:139235887-139235889 CCT>-_VKFASGNTVGQQPGVVAHPPAVPPR
16:633537-633537 A>C	1.0	4345	COLON	-	-	-	-	PIGQ	NM_148920,p.K729T|ENST00000026218,p.K729T|uc002chp.3,p.K299T|uc002cho.3,p.K729T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002chp.3	nonsynonymous SNV	exon2	c.A896C	p.K299T	PSAEQHPASGGLKQSLTPVPSGPGP	PSAEQHPASGGLTQSLTPVPSGPGP	7.0	9.0	-	-	4345_16:633537-633537 A>C_PSAEQHPASGGLTQSLTPVPSGPGP
4:125593509-125593509 C>T	1.0	4345	COLON	-	-	-	-	ANKRD50	uc011cgo.2,p.R129Q|ENST00000504087,p.R308Q|NM_001167882,p.R129Q|NM_020337,p.R308Q|ENST00000515641,p.R129Q|uc010inw.3,p.R308Q	protein_coding	uc011cgo.2	nonsynonymous SNV	exon3	c.G386A	p.R129Q	HIKSSGCFLYLERVLDGVVENFIML	HIKSSGCFLYLEQVLDGVVENFIML	5.0	9.0	-	-	4345_4:125593509-125593509 C>T_HIKSSGCFLYLEQVLDGVVENFIML
1:179562754-179562754 T>G	0.0	4345	COLON	-	-	-	-	TDRD5	uc021pfn.1,p.L131R|NM_001199089,p.L131R|ENST00000294848,p.L131R|ENST00000367614,p.L131R|NM_001199091,p.L131R|uc010pnp.2,p.L131R|NM_001199085,p.L131R|uc001gnf.2,p.L131R|ENST00000444136,p.L131R|NM_173533,p.L131R|uc021pfm.1,p.L131R	protein_coding	uc021pfn.1	nonsynonymous SNV	exon3	c.T392G	p.L131R	RRVPYRGRVAPILPAVVKSELKDLL	RRVPYRGRVAPIRPAVVKSELKDLL	4.0	2.0	unscreened	-	4345_1:179562754-179562754 T>G_RRVPYRGRVAPIRPAVVKSELKDLL
21:30341829-30341829 A>C	0.0	4345	COLON	-	-	-	-	LTN1	NM_015565,p.L470V|uc002ymr.2,p.L470V|ENST00000389194,p.L470V|ENST00000389195,p.L470V|ENST00000361371,p.L424V	protein_coding, processed_transcript	uc002ymr.2	nonsynonymous SNV	exon9	c.T1408G	p.L470V	FFECLRFIMQQNLGEEEIEQMLVND	FFECLRFIMQQNVGEEEIEQMLVND	6.0	1.0	-	-	4345_21:30341829-30341829 A>C_FFECLRFIMQQNVGEEEIEQMLVND
7:92734205-92734205 T>G	0.0	4345	COLON	-	-	-	-	SAMD9	ENST00000379958,p.Q402H|NM_017654,p.Q402H|uc003umg.3,p.Q402H|NM_001193307,p.Q402H|ENST00000446617,p.Q402H|uc022ahg.1,p.Q402H|uc003umf.3,p.Q402H	protein_coding	uc022ahg.1	nonsynonymous SNV	exon1	c.A1206C	p.Q402H	EGPKLVKLLTGNQDLLDNSYYEQYI	EGPKLVKLLTGNHDLLDNSYYEQYI	5.0	6.0	-	-	4345_7:92734205-92734205 T>G_EGPKLVKLLTGNHDLLDNSYYEQYI
14:88883081-88883081 C>T	1.0	4345	COLON	-	-	-	-	SPATA7	ENST00000556553,p.L57F|ENST00000393545,p.L89F|ENST00000356583,p.L57F|uc001xwr.3,p.L57F|uc001xwq.3,p.L89F|NM_018418,p.L89F|NM_001040428,p.L57F|ENST00000555401,p.L32F|ENST00000045347,p.L89F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xwr.3	nonsynonymous SNV	exon4	c.C169T	p.L57F	SIKYADQQRREKLKKELAQCEKEFK	SIKYADQQRREKFKKELAQCEKEFK	6.0	9.0	-	-	4345_14:88883081-88883081 C>T_SIKYADQQRREKFKKELAQCEKEFK
13:38320343-38320343 C>A	0.0	4345	COLON	-	-	-	-	TRPC4	uc010tey.2,p.A210S|uc001uwt.3,p.A210S|ENST00000379681,p.A210S|uc010aby.3,p.A210S|ENST00000447043,p.A210S|uc001uws.3,p.A210S|ENST00000426868,p.A210S|ENST00000379673,p.A210S|NM_016179,p.A210S|NM_003306,p.A210S|ENST00000358477,p.A210S|ENST00000488717,p.A210S|ENST00000355779,p.A210S|NM_001135956,p.A210S|uc010abx.3,p.A210S|NM_001135957,p.A210S|ENST00000379705,p.A210S|NM_001135955,p.A210S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010tey.2	nonsynonymous SNV	exon3	c.G628T	p.A210S	NIYKALASPSLIALSSEDPFLTAFQ	NIYKALASPSLISLSSEDPFLTAFQ	2.0	10.0	unscreened	-	4345_13:38320343-38320343 C>A_NIYKALASPSLISLSSEDPFLTAFQ
14:88883081-88883081 C>T	1.0	4345	COLON	-	-	-	-	SPATA7	uc001xws.3,p.L25F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001xws.3	nonsynonymous SNV	exon4	c.C73T	p.L25F	PRIDADQQRREKLKKELAQCEKEFK	PRIDADQQRREKFKKELAQCEKEFK	6.0	9.0	-	-	4345_14:88883081-88883081 C>T_PRIDADQQRREKFKKELAQCEKEFK
6:55406553-55406553 A>C	0.0	4345	COLON	-	-	-	-	HMGCLL1	NM_019036,p.F121V|ENST00000398661,p.F121V|uc003pcn.3,p.F121V|ENST00000274901,p.F91V|uc003pco.3,p.F91V|NM_001042406,p.F91V	protein_coding, processed_transcript, nonsense_mediated_decay	uc003pco.3	nonsynonymous SNV	exon3	c.T271G	p.F91V	SQTGLSVIEVTSFVSSRWVPQMADH	SQTGLSVIEVTSVVSSRWVPQMADH	2.0	1.0	unscreened	-	4345_6:55406553-55406553 A>C_SQTGLSVIEVTSVVSSRWVPQMADH
2:237123196-237123196 C>T	0.0	4345	COLON	-	-	-	-	ASB18	ENST00000409749,p.A304T|ENST00000330842,p.A275T|uc010znh.2,p.A304T|NM_212556,p.A304T|ENST00000447030,p.A17T	retained_intron, protein_coding, processed_transcript	uc010znh.2	nonsynonymous SNV	exon4	c.G910A	p.A304T	DERSPLHKACGHASHSLARLLLRHG	DERSPLHKACGHTSHSLARLLLRHG	1.0	10.0	unscreened	-	4345_2:237123196-237123196 C>T_DERSPLHKACGHTSHSLARLLLRHG
11:55136345-55136345 T>C	0.0	4345	COLON	-	-	ID=COSM1260211;OCCURENCE=1(oesophagus)	-	OR4A15	ENST00000314706,p.L329P|NM_001005275,p.L329P|uc010rif.2,p.L329P	protein_coding	uc010rif.2	nonsynonymous SNV	exon1	c.T986C	p.L329P	LKNAEMKSAMRKLWSKKVSLAGKWL	LKNAEMKSAMRKPWSKKVSLAGKWL	1.0	1.0	unscreened	-	4345_11:55136345-55136345 T>C_LKNAEMKSAMRKPWSKKVSLAGKWL
5:140812775-140812775 ->T	0.0	4345	COLON	-	-	-	-	PCDHGA12	NM_032094,p.L817fs|uc011dba.2,p.L817fs	protein_coding	uc011dba.2	frameshift insertion	exon1	c.2450dupT	p.L817fs	GLIEVSLYQIFFLFFF	GLIEVSLYQIFFLFFFL	8.0	10.0	-	translate beyond stop codon PR	4345_5:140812775-140812775 ->T_GLIEVSLYQIFFLFFFL
1:12941723-12941723 T>G	0.0	4345	COLON	-	rs4503360	ID=COSM3667334;OCCURENCE=1(liver)	-	PRAMEF4	ENST00000235349,p.Y276S|NM_001009611,p.Y276S|uc001aun.2,p.Y276S	protein_coding	uc001aun.2	nonsynonymous SNV	exon3	c.A827C	p.Y276S	TQFLKLRCLQKLYMNSVSFLEGHLD	TQFLKLRCLQKLSMNSVSFLEGHLD	1.0	8.0	unscreened	-	4345_1:12941723-12941723 T>G_TQFLKLRCLQKLSMNSVSFLEGHLD
13:35624411-35624411 G>A	0.0	4345	COLON	-	-	-	2	NBEA	ENST00000379939,p.R284H|uc021ric.1,p.R284H|uc021rid.1,p.R284H|ENST00000400445,p.R284H|ENST00000540320,p.R284H|ENST00000310336,p.R284H|NM_015678,p.R284H	protein_coding, processed_transcript	uc021rid.1	nonsynonymous SNV	exon6	c.G851A	p.R284H	NVDKDKPYLYCFRTSKGVGYSAHFV	NVDKDKPYLYCFHTSKGVGYSAHFV	3.0	1.0	unscreened	-	4345_13:35624411-35624411 G>A_NVDKDKPYLYCFHTSKGVGYSAHFV
22:37771081-37771081 C>T	0.0	4345	COLON	-	-	-	-	ELFN2	ENST00000349653,p.R165H|uc021wph.1,p.R165H|uc003asq.4,p.R165H|NM_052906,p.R165H|ENST00000402918,p.R165H	protein_coding	uc021wph.1	nonsynonymous SNV	exon1	c.G494A	p.R165H	LISIDLSSNRLSRLDGATFASLASL	LISIDLSSNRLSHLDGATFASLASL	2.0	9.0	unscreened	-	4345_22:37771081-37771081 C>T_LISIDLSSNRLSHLDGATFASLASL
7:6560245-6560245 C>T	0.0	4345	COLON	-	-	-	-	GRID2IP	ENST00000452113,p.G221E|uc011jwx.2,p.G411E|ENST00000457091,p.G411E|NM_001145118,p.G411E|ENST00000435185,p.G228E	protein_coding	uc011jwx.2	nonsynonymous SNV	exon7	c.G1232A	p.G411E	QLEHLLTPPERYGVCRALESFFQHR	QLEHLLTPPERYEVCRALESFFQHR	2.0	9.0	unscreened	-	4345_7:6560245-6560245 C>T_QLEHLLTPPERYEVCRALESFFQHR
22:17586784-17586784 T>G	0.0	4345	COLON	-	-	-	-	IL17RA	NM_014339,p.S329A|uc002zly.4,p.S329A|ENST00000319363,p.S329A	retained_intron, protein_coding, processed_transcript	uc002zly.4	nonsynonymous SNV	exon11	c.T985G	p.S329A	MPLWVYWFITGISILLVGSVILLIV	MPLWVYWFITGIAILLVGSVILLIV	6.0	4.0	-	-	4345_22:17586784-17586784 T>G_MPLWVYWFITGIAILLVGSVILLIV
15:23686228-23686228 ->TCTCCTCCTCTTCCCGCATCT	0.0	4345	COLON	-	-	-	-	GOLGA8S,MIR4508	ENST00000345070,p.T192delinsKMREEEET|uc021sfy.1,p.T453delinsKMREEEET|ENST00000312015,p.T465delinsKMREEEET|ENST00000567107,p.T465delinsKMREEEET	protein_coding, nonsense_mediated_decay	uc021sfy.1	nonframeshift insertion	exon8	c.1357_1358insAGATGCGGGAAGAGGAGGAGA	p.T453delinsKMREEEET	REREKKMREEEETMREQEEKMQKQE	REREKKMREEEEKMREEEETMREQEEKMQKQE	7.0	7.0	unscreened	-	4345_15:23686228-23686228 ->TCTCCTCCTCTTCCCGCATCT_REREKKMREEEEKMREEEETMREQEEKMQKQE
5:76934347-76934347 C>T	0.0	4345	COLON	-	-	-	-	OTP	uc003kfg.3,p.A10T|NM_032109,p.A10T|ENST00000306422,p.A10T	protein_coding, processed_transcript	uc003kfg.3	nonsynonymous SNV	exon1	c.G28A	p.A10T	MLSHADLLDARLGMKDAAELLG	MLSHADLLDTRLGMKDAAELLG	1.0	10.0	unscreened	-	4345_5:76934347-76934347 C>T_MLSHADLLDTRLGMKDAAELLG
3:98531290-98531290 G>A	0.0	4345	COLON	-	-	-	-	DCBLD2	ENST00000326857,p.R417C|uc003dte.3,p.R417C|NM_080927,p.R417C|uc003dtd.3,p.R417C|ENST00000326840,p.R417C	retained_intron, protein_coding, processed_transcript	uc003dte.3	nonsynonymous SNV	exon10	c.C1249T	p.R417C	IFQGNKDYHQDVRNNFLPPIIARFI	IFQGNKDYHQDVCNNFLPPIIARFI	5.0	10.0	-	-	4345_3:98531290-98531290 G>A_IFQGNKDYHQDVCNNFLPPIIARFI
16:3065617-3065617 ->G	0.0	4345	COLON	-	-	-	-	CLDN6	uc002csu.4,p.V136fs|NM_021195,p.V136fs|ENST00000396925,p.V136fs|uc021tbb.1,p.V136fs|ENST00000328796,p.V136fs	protein_coding, nonsense_mediated_decay	uc021tbb.1	frameshift insertion	exon1	c.405dupC	p.V136fs	VFVISGVLTLIPVCWTAHAIIRDFY	VFVISGVLTLIPRVLDGACHHPGLL	1.0	8.0	unscreened	-	4345_16:3065617-3065617 ->G_VFVISGVLTLIPRVLDGACHHPGLL
9:136501625-136501625 G>C	0.0	4345	COLON	-	-	-	-	DBH	ENST00000393056,p.E44D|NM_000787,p.E44D|ENST00000263611,p.E30D|uc004cel.3,p.E44D	protein_coding	uc004cel.3	nonsynonymous SNV	exon1	c.G132C, c.A133C	p.E44D, p.S45R	ILVAALQGSAPRESPLPYHIPLDPE	ILVAALQGSAPRDSPLPYHIPLDPE	2.0	10.0	unscreened	Dinucleotide variant 9:136501626-136501626 A>C, residue 14 S>R	4345_9:136501625-136501625 G>C_ILVAALQGSAPRDSPLPYHIPLDPE
17:71382664-71382664 T>G	0.0	4345	COLON	-	-	-	-	SDK2	uc002jjt.4,p.K632T|ENST00000424778,p.K649T|ENST00000388726,p.K1473T|NM_001144952,p.K1473T|uc010dfn.2,p.K1152T|ENST00000392650,p.K1473T|uc010dfm.3,p.K1473T	retained_intron, protein_coding, processed_transcript	uc010dfn.2	nonsynonymous SNV	exon24	c.A3455C	p.K1152T	FIVDRLKPFTSYKFRVKATNDIGDS	FIVDRLKPFTSYTFRVKATNDIGDS	3.0	3.0	unscreened	-	4345_17:71382664-71382664 T>G_FIVDRLKPFTSYTFRVKATNDIGDS
1:201288954-201288954 G>A	0.0	4345	COLON	-	-	-	-	PKP1	uc001gwd.3,p.G415S|ENST00000263946,p.G415S|ENST00000352845,p.G415S|NM_000299,p.G415S	protein_coding, processed_transcript	uc001gwd.3	nonsynonymous SNV	exon7	c.G1243A	p.G415S	FFNATGCLRKRLGMRELLALVPQRA	FFNATGCLRKRLNMRELLALVPQRA	5.0	8.0	unscreened	Snp within 36 nucleotides, 1:201288955-201288955 G>A, residue 13 G>N PR	4345_1:201288954-201288954 G>A_FFNATGCLRKRLNMRELLALVPQRA
9:137968997-137968998 CA>-	0.0	4345	COLON	-	-	-	-	OLFM1	uc010naq.2,p.H136fs|ENST00000371799,p.H146fs	retained_intron, protein_coding	uc010naq.2	frameshift deletion	exon2	c.406_407del	p.H136fs	VHCCWTDAFIHVHTHTHTCTHRGADT	VHCCWTDAFIHVHTHTHMHTQGSRYLQRRANQVL	4.0	1.0	unscreened	-	4345_9:137968997-137968998 CA>-_VHCCWTDAFIHVHTHTHMHTQGSRYLQRRANQVL
1:111216188-111216188 G>A	0.0	4345	COLON	-	-	ID=COSM168480;OCCURENCE=3(large_intestine)	-	KCNA3	ENST00000369769,p.A415V|NM_002232,p.A415V|uc001dzv.1,p.A415V	protein_coding	uc001dzv.1	nonsynonymous SNV	exon1	c.C1244T	p.A415V	FFLFIGVILFSSAVYFAEADDPTSG	FFLFIGVILFSSVVYFAEADDPTSG	2.0	10.0	unscreened	-	4345_1:111216188-111216188 G>A_FFLFIGVILFSSVVYFAEADDPTSG
1:160097447-160097447 A>G	0.0	4345	COLON	-	-	-	-	ATP1A2	uc001fvd.3,p.E21G|uc001fvb.2,p.E285G|uc010piz.1,p.E130G|ENST00000392233,p.E285G|uc001fvc.3,p.E285G|ENST00000361216,p.E285G|NM_000702,p.E285G	protein_coding, processed_transcript	uc010piz.1	nonsynonymous SNV	exon4	c.A389G	p.E130G	SGLEVGRTPIAMEIEHFIQLITGVA	SGLEVGRTPIAMGIEHFIQLITGVA	4.0	4.0	unscreened	-	4345_1:160097447-160097447 A>G_SGLEVGRTPIAMGIEHFIQLITGVA
6:55406553-55406553 A>C	0.0	4345	COLON	-	-	-	-	HMGCLL1	ENST00000428842,p.F91V|ENST00000308161,p.F91V|NM_001287741,p.F91V|uc011dxc.2,p.F91V|uc003pcp.3,p.F91V	protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxc.2	nonsynonymous SNV	exon3	c.T271G	p.F91V	SQTGLSVIEVTSFVSSRWVPQVAAG	SQTGLSVIEVTSVVSSRWVPQVAAG	2.0	1.0	unscreened	-	4345_6:55406553-55406553 A>C_SQTGLSVIEVTSVVSSRWVPQVAAG
6:55406553-55406553 A>C	0.0	4345	COLON	-	-	-	-	HMGCLL1	ENST00000508459,p.F91V|uc011dxe.2,p.F91V	protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxe.2	nonsynonymous SNV	exon3	c.T271G	p.F91V	SQTGLSVIEVTSFVSSRWVPQMGIN	SQTGLSVIEVTSVVSSRWVPQMGIN	2.0	1.0	unscreened	-	4345_6:55406553-55406553 A>C_SQTGLSVIEVTSVVSSRWVPQMGIN
6:55406553-55406553 A>C	0.0	4345	COLON	-	-	-	-	HMGCLL1	ENST00000370850,p.F91V|NM_001287753,p.F91V|uc011dxd.2,p.F91V	protein_coding, processed_transcript, nonsense_mediated_decay	uc011dxd.2	nonsynonymous SNV	exon3	c.T271G	p.F91V	SQTGLSVIEVTSFVSSRWVPQVSKR	SQTGLSVIEVTSVVSSRWVPQVSKR	2.0	1.0	unscreened	-	4345_6:55406553-55406553 A>C_SQTGLSVIEVTSVVSSRWVPQVSKR
15:55965704-55965704 T>C	0.0	4345	COLON	-	-	-	-	PRTG	NM_173814,p.T573A|ENST00000389286,p.T573A|ENST00000561465,p.T108A|uc002adg.3,p.T573A|uc002adh.3,p.T75A	retained_intron, protein_coding, TEC	uc002adh.3	nonsynonymous SNV	exon2	c.A223G	p.T75A	ENSIQVLELPGTTHEYLLEGLKPDS	ENSIQVLELPGTAHEYLLEGLKPDS	3.0	7.0	unscreened	-	4345_15:55965704-55965704 T>C_ENSIQVLELPGTAHEYLLEGLKPDS
19:15133876-15133876 A>T	0.0	4345	COLON	-	-	-	-	CCDC105	uc002nae.2,p.K482M|ENST00000292574,p.K482M|NM_173482,p.K482M	protein_coding	uc002nae.2	nonsynonymous SNV	exon7	c.A1445T	p.K482M	PHVCYEQAQRLVKDWDPRTPPPRSK	PHVCYEQAQRLVMDWDPRTPPPRSK	1.0	5.0	unscreened	-	4345_19:15133876-15133876 A>T_PHVCYEQAQRLVMDWDPRTPPPRSK
3:75787470-75787470 T>G	0.0	4345	COLON	-	-	-	-	ZNF717	uc011bgi.2,p.K435T|NM_001290208,p.K435T|NM_001290209,p.K385T|ENST00000478296,p.K385T|ENST00000400845,p.K428T|NM_001128223,p.K435T|ENST00000422325,p.K435T	protein_coding, processed_transcript	uc011bgi.2	nonsynonymous SNV	exon5	c.A1304C	p.K435T	YACDHCEEAFSHKSRLTVHQRTHTG	YACDHCEEAFSHTSRLTVHQRTHTG	4.0	8.0	-	-	4345_3:75787470-75787470 T>G_YACDHCEEAFSHTSRLTVHQRTHTG
X:88009293-88009293 A>G	0.0	4345	COLON	-	-	-	-	CPXCR1	NM_001184771,p.Q293R|ENST00000373111,p.Q293R|uc022bzq.1,p.Q293R|uc004efd.4,p.Q293R|NM_033048,p.Q293R|ENST00000276127,p.Q293R|uc004efc.4,p.Q293R	protein_coding	uc022bzq.1	nonsynonymous SNV	exon1	c.A878G	p.Q293R	CGRLFNTYSELRQHSCSSSGN	CGRLFNTYSELRRHSCSSSGN	1.0	9.0	unscreened	-	4345_X:88009293-88009293 A>G_CGRLFNTYSELRRHSCSSSGN
2:167137046-167137046 A>C	0.0	4345	COLON	-	-	ID=COSM1400838;OCCURENCE=1(large_intestine)	-	SCN9A	ENST00000409435,p.L722V|NM_002977,p.L711V|uc010fpl.3,p.L711V|ENST00000409672,p.L711V|ENST00000303354,p.L723V|ENST00000375387,p.L723V	retained_intron, protein_coding	uc010fpl.3	nonsynonymous SNV	exon14	c.T2131G	p.L711V	CPPWWYRFAHKFLIWNCSPYWIKFK	CPPWWYRFAHKFVIWNCSPYWIKFK	4.0	4.0	unscreened	-	4345_2:167137046-167137046 A>C_CPPWWYRFAHKFVIWNCSPYWIKFK
11:92714915-92714915 T>G	0.0	4345	COLON	-	-	-	-	MTNR1B	ENST00000257068,p.F176V|uc001pdk.1,p.F176V|NM_005959,p.F176V	protein_coding, nonsense_mediated_decay	uc001pdk.1	nonsynonymous SNV	exon2	c.T526G	p.F176V	IWLLTVVALLPNFFVGSLEYDPRIY	IWLLTVVALLPNVFVGSLEYDPRIY	1.0	7.0	unscreened	-	4345_11:92714915-92714915 T>G_IWLLTVVALLPNVFVGSLEYDPRIY
11:1858632-1858632 C>T	0.0	4345	COLON	0.01	-	-	-	SYT8	uc001lue.1,p.R393C|NM_001290332,p.R394C|NM_001290333,p.R393C|NM_138567,p.R393C|NM_001290334,p.R392C|ENST00000381968,p.R393C|uc001lud.2,p.R393C|ENST00000341958,p.R379C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001lue.1	nonsynonymous SNV	exon9	c.C1177T	p.R393C	EVDRMLALQPRLRLRLPLPHS	EVDRMLALQPRLCLRLPLPHS	4.0	9.0	unscreened	-	4345_11:1858632-1858632 C>T_EVDRMLALQPRLCLRLPLPHS
7:33139041-33139041 T>C	0.0	4345	COLON	-	-	-	-	RP9	NM_203288,p.E64G|ENST00000448915,p.E30G|ENST00000297157,p.E64G|uc003tdm.3,p.E64G	retained_intron, protein_coding	uc003tdm.3	nonsynonymous SNV	exon3	c.A191G	p.E64G	YEKPPPGLIKEDETKPEDCIPDVPG	YEKPPPGLIKEDGTKPEDCIPDVPG	7.0	3.0	-	-	4345_7:33139041-33139041 T>C_YEKPPPGLIKEDGTKPEDCIPDVPG
2:215884125-215884125 T>C	0.0	4345	COLON	-	-	-	-	ABCA12	NM_015657,p.Q213R|NM_173076,p.Q531R|uc002vev.3,p.Q213R|ENST00000389661,p.Q213R|uc002vew.3,p.Q531R|ENST00000272895,p.Q531R	protein_coding	uc002vew.3	nonsynonymous SNV	exon13	c.A1592G	p.Q531R	QALQMNYLENITQLIPIIEAMLHVN	QALQMNYLENITRLIPIIEAMLHVN	1.0	5.0	unscreened	-	4345_2:215884125-215884125 T>C_QALQMNYLENITRLIPIIEAMLHVN
20:47351111-47351111 T>G	0.0	4345	COLON	-	-	-	-	PREX1	ENST00000396220,p.K164T|NM_020820,p.K164T|uc002xtw.1,p.K164T|ENST00000371941,p.K164T	protein_coding, processed_transcript, nonsense_mediated_decay	uc002xtw.1	nonsynonymous SNV	exon4	c.A491C	p.K164T	HEKALRLLVELNKIPTVRAFLLSCM	HEKALRLLVELNTIPTVRAFLLSCM	5.0	5.0	-	-	4345_20:47351111-47351111 T>G_HEKALRLLVELNTIPTVRAFLLSCM
5:178140326-178140326 T>G	0.0	4345	COLON	-	-	-	-	ZNF354A	ENST00000335815,p.T185P|NM_005649,p.T185P|uc003mjj.3,p.T185P	protein_coding, nonsense_mediated_decay	uc003mjj.3	nonsynonymous SNV	exon5	c.A553C	p.T185P	VLIRQQILPREKTPPKCEIQGNSLK	VLIRQQILPREKPPPKCEIQGNSLK	6.0	4.0	-	-	4345_5:178140326-178140326 T>G_VLIRQQILPREKPPPKCEIQGNSLK
5:1208882-1208882 T>G	0.0	4345	COLON	-	-	-	-	SLC6A19	ENST00000515652,p.L75R|ENST00000304460,p.L75R|NM_001003841,p.L75R|uc003jbw.4,p.L75R	protein_coding, nonsense_mediated_decay	uc003jbw.4	nonsynonymous SNV	exon2	c.T224G	p.L75R	QSHGGGAFMIPFLILLVLEGIPLLY	QSHGGGAFMIPFRILLVLEGIPLLY	2.0	2.0	unscreened	-	4345_5:1208882-1208882 T>G_QSHGGGAFMIPFRILLVLEGIPLLY
5:135651354-135651354 T>G	0.0	4345	COLON	-	-	-	-	TRPC7	NM_020389,p.Q298H|uc010jef.2,p.Q289H|ENST00000513104,p.Q298H|uc003lbn.2,p.Q298H	retained_intron, protein_coding, nonsense_mediated_decay	uc010jef.2	nonsynonymous SNV	exon2	c.A867C	p.Q289H	EVEAILNGDVNFQVWSDHHRPSLSR	EVEAILNGDVNFHVWSDHHRPSLSR	1.0	6.0	unscreened	-	4345_5:135651354-135651354 T>G_EVEAILNGDVNFHVWSDHHRPSLSR
7:57187771-57187771 T>A	0.0	4345	COLON	-	-	-	2	ZNF479	ENST00000331162,p.T451S|uc010kzo.3,p.T451S|NM_033273,p.T451S	protein_coding	uc010kzo.3	nonsynonymous SNV	exon5	c.A1351T	p.T451S	CEECGKAFSLSSTLTDHKRIHTGER	CEECGKAFSLSSSLTDHKRIHTGER	3.0	6.0	unscreened	-	4345_7:57187771-57187771 T>A_CEECGKAFSLSSSLTDHKRIHTGER
12:85432009-85432009 C>G	0.0	4345	COLON	-	-	-	-	LRRIQ1	ENST00000393212,p.L19V|uc001tac.3,p.L19V|uc001taa.1,p.L19V|ENST00000393217,p.L19V|NM_001079910,p.L19V	retained_intron, protein_coding, nonsense_mediated_decay	uc001tac.3	nonsynonymous SNV	exon2	c.C55G	p.L19V	KLKAEIEAELDKLSISSLEKEDIES	KLKAEIEAELDKVSISSLEKEDIES	2.0	1.0	unscreened	-	4345_12:85432009-85432009 C>G_KLKAEIEAELDKVSISSLEKEDIES
9:95481011-95481011 T>C	0.0	4345	COLON	-	-	-	-	BICD2	ENST00000356884,p.K639R|ENST00000375512,p.K639R|NM_015250,p.K639R|NM_001003800,p.K639R|uc004aso.1,p.K639R|uc004asp.1,p.K639R	protein_coding	uc004asp.1	nonsynonymous SNV	exon5	c.A1916G	p.K639R	IYNLIAIIRDQIKHLQAAVDRTTEL	IYNLIAIIRDQIRHLQAAVDRTTEL	6.0	7.0	-	-	4345_9:95481011-95481011 T>C_IYNLIAIIRDQIRHLQAAVDRTTEL
5:94918807-94918807 T>G	0.0	4345	COLON	-	-	-	-	ARSK	ENST00000504873,p.L202V|uc010jbg.3,p.L43V|NM_198150,p.L202V|uc003kld.3,p.L202V|ENST00000380009,p.L202V	protein_coding, nonsense_mediated_decay	uc010jbg.3	nonsynonymous SNV	exon5	c.T127G	p.L43V	EAINYTEPFVIYLGLNLPHPYPSPS	EAINYTEPFVIYVGLNLPHPYPSPS	5.0	2.0	unscreened	-	4345_5:94918807-94918807 T>G_EAINYTEPFVIYVGLNLPHPYPSPS
6:129634027-129634027 G>A	0.0	4345	COLON	-	-	-	-	LAMA2	uc021zfb.1,p.G1066R|uc003qbn.3,p.G1066R|NM_001079823,p.G1066R|uc003qbo.3,p.G1066R|NM_000426,p.G1066R|ENST00000421865,p.G1066R	protein_coding, processed_transcript	uc021zfb.1	nonsynonymous SNV	exon23	c.G3196A	p.G1066R	TTGCKACNCSTVGSLDFQCNVNTGQ	TTGCKACNCSTVRSLDFQCNVNTGQ	1.0	9.0	unscreened	-	4345_6:129634027-129634027 G>A_TTGCKACNCSTVRSLDFQCNVNTGQ
10:99330232-99330232 T>G	0.0	4345	COLON	-	-	-	-	UBTD1	NM_024954,p.D212E|ENST00000370664,p.D212E|uc001knv.1,p.D212E	protein_coding	uc001knv.1	nonsynonymous SNV	exon3	c.T636G	p.D212E	DRTRLQETKIQKDFVIQVIINQPPP	DRTRLQETKIQKEFVIQVIINQPPP	5.0	7.0	-	-	4345_10:99330232-99330232 T>G_DRTRLQETKIQKEFVIQVIINQPPP
8:123966232-123966232 G>A	0.0	4345	COLON	-	-	-	-	ZHX2	uc003ypk.1,p.D828N|ENST00000314393,p.D828N|uc022bag.1,p.D828N|NM_014943,p.D828N	protein_coding	uc022bag.1	nonsynonymous SNV	exon1	c.G2482A	p.D828N	AEGVSELAESDSDCVPAEAGQA	AEGVSELAESDSNCVPAEAGQA	5.0	10.0	-	-	4345_8:123966232-123966232 G>A_AEGVSELAESDSNCVPAEAGQA
1:216390773-216390773 C>G	0.0	4345	COLON	-	-	-	-	USH2A	uc001hkv.3,p.S1038T|ENST00000307340,p.S1038T|NM_206933,p.S1038T|uc001hku.1,p.S1038T|ENST00000366942,p.S1038T|NM_007123,p.S1038T|ENST00000366943,p.S1038T	retained_intron, protein_coding	uc001hkv.3	nonsynonymous SNV	exon15	c.G3113C	p.S1038T	FVTGSKCDACVPSASHLDVNNLLGC	FVTGSKCDACVPTASHLDVNNLLGC	1.0	10.0	unscreened	-	4345_1:216390773-216390773 C>G_FVTGSKCDACVPTASHLDVNNLLGC
3:56809134-56809134 T>G	0.0	4345	COLON	-	-	-	-	ARHGEF3	ENST00000497267,p.E3A|uc011bev.1,p.E3A	protein_coding, processed_transcript, nonsense_mediated_decay	uc011bev.1	nonsynonymous SNV	exon1	c.A8C	p.E3A	MIEEPSNKRVKPLSR	MIAEPSNKRVKPLSR	7.0	6.0	-	-	4345_3:56809134-56809134 T>G_MIAEPSNKRVKPLSR
19:4512245-4512245 G>A	0.0	4345	COLON	-	-	ID=COSM178940;OCCURENCE=1(large_intestine)	-	PLIN4	uc002mar.1,p.A562V|ENST00000301286,p.A562V|NM_001080400,p.A562V	protein_coding	uc002mar.1	nonsynonymous SNV	exon3	c.C1685T	p.A562V	TKDTMSTGLTGAANVAKGAVQTGVD	TKDTMSTGLTGAVNVAKGAVQTGVD	2.0	9.0	unscreened	-	4345_19:4512245-4512245 G>A_TKDTMSTGLTGAVNVAKGAVQTGVD
1:12884918-12884918 A>G	0.0	4345	COLON	-	-	-	-	PRAMEF11	uc001auk.2,p.L398P|ENST00000437584,p.L398P|ENST00000535591,p.L398P	protein_coding	uc001auk.2	nonsynonymous SNV	exon4	c.T1193C	p.L398P	LCWSRFAQIRAELMKKVRHLRHPKR	LCWSRFAQIRAEPMKKVRHLRHPKR	1.0	7.0	unscreened	-	4345_1:12884918-12884918 A>G_LCWSRFAQIRAEPMKKVRHLRHPKR
1:11595115-11595115 G>A	0.0	4345	COLON	-	-	-	-	PTCHD2	NM_020780,p.V1195M|uc001ash.4,p.V1195M|ENST00000294484,p.V1195M|ENST00000389575,p.V1195M	protein_coding, processed_transcript	uc001ash.4	nonsynonymous SNV	exon19	c.G3583A	p.V1195M	ALCGLVLSLLICVAAVAVFTTHILL	ALCGLVLSLLICMAAVAVFTTHILL	2.0	9.0	unscreened	-	4345_1:11595115-11595115 G>A_ALCGLVLSLLICMAAVAVFTTHILL
1:201180254-201180254 A>C	0.0	4345	COLON	-	-	-	-	IGFN1	ENST00000335211,p.K2078T|NM_001164586,p.K2078T|uc001gwc.3,p.K2078T	retained_intron, protein_coding, nonsense_mediated_decay	uc001gwc.3	nonsynonymous SNV	exon12	c.A6233C	p.K2078T	NEAGYRKDLGAPKGMGSGSKTGFRD	NEAGYRKDLGAPTGMGSGSKTGFRD	4.0	7.0	unscreened	-	4345_1:201180254-201180254 A>C_NEAGYRKDLGAPTGMGSGSKTGFRD
7:151078984-151078984 A>G	0.0	4345	COLON	-	-	-	-	WDR86	NM_001284260,p.I337T|uc011kvk.1,p.I337T|ENST00000469830,p.I337T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kvk.1	nonsynonymous SNV	exon5	c.T1010C	p.I337T	VWRAAEGVPGPHIHHQLHPGARPGA	VWRAAEGVPGPHTHHQLHPGARPGA	1.0	9.0	unscreened	-	4345_7:151078984-151078984 A>G_VWRAAEGVPGPHTHHQLHPGARPGA
5:33982344-33982344 T>G	0.0	4345	COLON	-	-	-	-	SLC45A2	uc003jid.3,p.T187P|ENST00000296589,p.T187P|NM_001012509,p.T187P|ENST00000382102,p.T187P|uc003jie.3,p.T187P|NM_016180,p.T187P	retained_intron, protein_coding	uc003jie.3	nonsynonymous SNV	exon2	c.A559C	p.T187P	DKEKGLHYHALFTGFGGALGYLLGA	DKEKGLHYHALFPGFGGALGYLLGA	4.0	5.0	unscreened	-	4345_5:33982344-33982344 T>G_DKEKGLHYHALFPGFGGALGYLLGA
1:23340431-23340431 A>G	0.0	4345	COLON	-	-	-	-	C1orf234	ENST00000566855,p.L37P|uc001bgh.1,p.L37P|NM_001242521,p.L37P	protein_coding	uc001bgh.1	nonsynonymous SNV	exon2	c.T110C	p.L37P	PALFGFLFLLLLLSNWLVKYEHKLT	PALFGFLFLLLLPSNWLVKYEHKLT	1.0	1.0	unscreened	-	4345_1:23340431-23340431 A>G_PALFGFLFLLLLPSNWLVKYEHKLT
7:138394442-138394442 C>A	0.0	4345	COLON	-	-	-	-	ATP6V0A4	ENST00000310018,p.A786S|uc003vuf.3,p.A786S|NM_130840,p.A786S|ENST00000393054,p.A786S|NM_130841,p.A786S|uc003vug.3,p.A786S|NM_020632,p.A786S|uc003vuh.3,p.A786S|ENST00000353492,p.A786S	retained_intron, protein_coding, processed_transcript	uc003vuh.3	nonsynonymous SNV	exon20	c.G2356T	p.A786S	GIVGVFIIFAVFAVLTVAILLIMEG	GIVGVFIIFAVFSVLTVAILLIMEG	3.0	9.0	unscreened	-	4345_7:138394442-138394442 C>A_GIVGVFIIFAVFSVLTVAILLIMEG
1:95609556-95609556 A>C	0.0	4345	COLON	-	-	-	-	TMEM56,TMEM56-RWDD3	NM_152487,p.K33N|NM_001199679,p.K33N|uc001drb.3,p.K33N|NM_001199691,p.K33N|ENST00000455656,p.K33N|uc001drd.4,p.K33N|ENST00000370203,p.K33N|ENST00000604534,p.K33N|ENST00000456991,p.K33N|uc021oqe.1,p.K33N	protein_coding, processed_transcript	uc021oqe.1	nonsynonymous SNV	exon2	c.A99C	p.K33N	LLFYFVSYWFSAKVSPGFNSLSFKK	LLFYFVSYWFSANVSPGFNSLSFKK	5.0	2.0	-	-	4345_1:95609556-95609556 A>C_LLFYFVSYWFSANVSPGFNSLSFKK
16:30486883-30486883 ->ACAGATGGA	0.0	4345	COLON	-	-	-	-	ITGAL	NM_002209,p.P103delinsPTDG|uc002dyi.4,p.P103delinsPTDG|ENST00000356798,p.P103delinsPTDG|ENST00000562857,p.P103delinsPTDG|ENST00000454514,p.P103delinsPTDG	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dyi.4	nonframeshift insertion	exon4	c.309_310insACAGATGGA	p.P103delinsPTDG	TSKYLGMTLATDPTDGSILACDPGL	TSKYLGMTLATDPTDGTDGSILACDPGL	6.0	8.0	unscreened	-	4345_16:30486883-30486883 ->ACAGATGGA_TSKYLGMTLATDPTDGTDGSILACDPGL
19:46145571-46145571 T>G	0.0	4345	COLON	-	-	-	-	C19orf83,EML2	ENST00000399594,p.D28A|NM_001193268,p.D71A|uc010xxl.2,p.D17A|uc010ekl.3,p.D71A|NM_001193269,p.D17A|uc010xxm.2,p.D71A|ENST00000587152,p.D71A|ENST00000536630,p.D17A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xxm.2	nonsynonymous SNV	exon2	c.A212C	p.D71A	DNLSGTSGMEVDDRVSALEQRLQLQ	DNLSGTSGMEVDARVSALEQRLQLQ	8.0	1.0	-	-	4345_19:46145571-46145571 T>G_DNLSGTSGMEVDARVSALEQRLQLQ
13:61987489-61987489 C>T	0.0	4345	COLON	-	-	-	-	PCDH20	uc010thj.2,p.R248H|ENST00000409186,p.R248H|ENST00000409204,p.R248H|NM_022843,p.R248H|uc001vid.4,p.R248H	protein_coding, processed_transcript	uc010thj.2	nonsynonymous SNV	exon5	c.G743A	p.R248H	DPDVGINGVQTYRLLDYHGMFTLDV	DPDVGINGVQTYHLLDYHGMFTLDV	4.0	8.0	unscreened	-	4345_13:61987489-61987489 C>T_DPDVGINGVQTYHLLDYHGMFTLDV
9:21385319-21385319 T>G	0.0	4345	COLON	-	-	-	-	IFNA2	NM_000605,p.T4P|uc003zpb.3,p.T4P|ENST00000380206,p.T4P	protein_coding	uc003zpb.3	nonsynonymous SNV	exon1	c.A10C	p.T4P	MALTFALLVALLVLSC	MALPFALLVALLVLSC	1.0	6.0	unscreened	-	4345_9:21385319-21385319 T>G_MALPFALLVALLVLSC
6:130407322-130407322 A>G	0.0	4345	COLON	-	-	-	-	L3MBTL3	ENST00000361794,p.E482G|NM_001007102,p.E457G|ENST00000368136,p.E482G|ENST00000526019,p.E457G|ENST00000529410,p.E482G|uc003qbt.3,p.E482G|ENST00000368139,p.E457G|ENST00000533560,p.E457G|uc003qbu.3,p.E457G|NM_032438,p.E482G	retained_intron, protein_coding	uc003qbu.3	nonsynonymous SNV	exon15	c.A1370G	p.E457G	KPPHGFQKKMKLEVVDKRNPMFIRV	KPPHGFQKKMKLGVVDKRNPMFIRV	1.0	1.0	unscreened	-	4345_6:130407322-130407322 A>G_KPPHGFQKKMKLGVVDKRNPMFIRV
2:186665048-186665048 A>G	0.0	4345	COLON	-	-	-	-	FSIP2	ENST00000424728,p.K3672R|uc002upl.3,p.K3761R|ENST00000343098,p.K3761R|NM_173651,p.K3761R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002upl.3	nonsynonymous SNV	exon17	c.A11282G	p.K3761R	STQQIGQLFQKNKLSYLACKLNSLV	STQQIGQLFQKNRLSYLACKLNSLV	1.0	1.0	unscreened	-	4345_2:186665048-186665048 A>G_STQQIGQLFQKNRLSYLACKLNSLV
18:6982541-6982541 A>G	0.0	4345	COLON	-	-	-	-	LAMA1	NM_005559,p.S1949P|uc002knm.3,p.S1949P|ENST00000389658,p.S1949P|uc010wzj.2,p.S1425P	retained_intron, protein_coding	uc010wzj.2	nonsynonymous SNV	exon40	c.T4273C	p.S1425P	LVSNGKAAVQRSSRFLKEGNNLSRK	LVSNGKAAVQRSPRFLKEGNNLSRK	3.0	3.0	unscreened	-	4345_18:6982541-6982541 A>G_LVSNGKAAVQRSPRFLKEGNNLSRK
7:135262562-135262562 G>A	0.0	4345	COLON	-	-	-	-	NUP205	ENST00000285968,p.E223K|NM_015135,p.E223K|uc003vsw.3,p.E223K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vsw.3	nonsynonymous SNV	exon6	c.G667A	p.E223K	EKHRKEVSDLIKECRQSLAESLFAW	EKHRKEVSDLIKKCRQSLAESLFAW	8.0	6.0	-	-	4345_7:135262562-135262562 G>A_EKHRKEVSDLIKKCRQSLAESLFAW
4:39465195-39465195 A>G	0.0	4345	COLON	-	-	-	-	LIAS	NM_001278592,p.E90G|uc011bym.2,p.E90G	retained_intron, protein_coding, processed_transcript	uc011bym.2	nonsynonymous SNV	exon3	c.A269G	p.E90G	LDVPILESVGEVENMPPPQPRSW	LDVPILESVGEVGNMPPPQPRSW	7.0	4.0	-	-	4345_4:39465195-39465195 A>G_LDVPILESVGEVGNMPPPQPRSW
X:127185791-127185791 A>T	0.0	4345	COLON	-	-	-	-	ACTRT1	NM_138289,p.V132E|uc004eum.3,p.V132E|ENST00000371124,p.V132E	protein_coding	uc004eum.3	nonsynonymous SNV	exon1	c.T395A	p.V132E	EKLAEMMFETFSVPGFYLSNHAVAA	EKLAEMMFETFSEPGFYLSNHAVAA	2.0	4.0	unscreened	-	4345_X:127185791-127185791 A>T_EKLAEMMFETFSEPGFYLSNHAVAA
8:140630515-140630515 G>A	0.0	4345	COLON	-	-	ID=COSM1163494;OCCURENCE=1(pancreas)	-	KCNK9	uc003yvg.1,p.R371W|ENST00000522317,p.R371W|ENST00000303015,p.R371W|uc003yvf.1,p.R371W|NM_001282534,p.R371W|ENST00000520439,p.R371W	protein_coding, processed_transcript	uc003yvg.1	nonsynonymous SNV	exon2	c.C1111T	p.R371W	HSFTDHQRLMKRRKSV	HSFTDHQRLMKRWKSV	1.0	5.0	unscreened	-	4345_8:140630515-140630515 G>A_HSFTDHQRLMKRWKSV
6:161557616-161557616 A>G	0.0	4345	COLON	-	-	-	-	AGPAT4	ENST00000320285,p.S365P|ENST00000457520,p.S203P|uc003qtr.1,p.S365P|uc011egb.1,p.S203P|NM_020133,p.S365P|uc003qts.1,p.S225P	protein_coding, nonsense_mediated_decay	uc011egb.1	nonsynonymous SNV	exon6	c.T607C	p.S203P	RWMIGVTEIDKGSAYGNSDSKQKLN	RWMIGVTEIDKGPAYGNSDSKQKLN	4.0	3.0	-	-	4345_6:161557616-161557616 A>G_RWMIGVTEIDKGPAYGNSDSKQKLN
3:43074879-43074879 T>C	0.0	4345	COLON	-	-	-	-	FAM198A	uc003cmp.4,p.V375A|uc010hih.3,p.V348A|ENST00000273146,p.V375A|NM_001129908,p.V375A|ENST00000430121,p.V375A	retained_intron, protein_coding, nonsense_mediated_decay	uc010hih.3	nonsynonymous SNV	exon2	c.T1043C	p.V348A	GGARPVIWWAPDVQHLSDPDEDQNS	GGARPVIWWAPDAQHLSDPDEDQNS	1.0	9.0	unscreened	-	4345_3:43074879-43074879 T>C_GGARPVIWWAPDAQHLSDPDEDQNS
1:116380836-116380836 C>T	0.0	4345	COLON	-	-	-	-	NHLH2	ENST00000369506,p.R53Q|ENST00000429731,p.R53Q|NM_005599,p.R53Q|ENST00000320238,p.R53Q|uc021osf.1,p.R53Q|NM_001111061,p.R53Q|uc009wgz.3,p.R53Q|uc001efy.3,p.R53Q	protein_coding	uc021osf.1	nonsynonymous SNV	exon1	c.G158A	p.R53Q	VEEAEGDGKGGSRAALYPHPQQLSR	VEEAEGDGKGGSQAALYPHPQQLSR	1.0	9.0	unscreened	-	4345_1:116380836-116380836 C>T_VEEAEGDGKGGSQAALYPHPQQLSR
13:36445390-36445390 C>T	0.0	4345	COLON	-	-	ID=COSM3772808,COSM3772810,COSM3772809;OCCURENCE=2(pancreas)	-	DCLK1	NM_004734,p.R304H|ENST00000360631,p.R304H|ENST00000255448,p.R304H|ENST00000379892,p.R304H|uc001uvf.3,p.R304H	protein_coding, processed_transcript	uc001uvf.3	nonsynonymous SNV	exon5	c.G911A	p.R304H	RRSTTKSPGPSRRSKSPASTSSVNG	RRSTTKSPGPSRHSKSPASTSSVNG	3.0	9.0	unscreened	-	4345_13:36445390-36445390 C>T_RRSTTKSPGPSRHSKSPASTSSVNG
1:43201549-43201549 T>A	0.0	4345	COLON	-	-	-	-	CLDN19	ENST00000296387,p.E209V|uc001cht.1,p.E209V|NM_148960,p.E209V	protein_coding	uc001cht.1	nonsynonymous SNV	exon4	c.A626T	p.E209V	QPYRPGPSAAAREPVVKLPASAKGP	QPYRPGPSAAARVPVVKLPASAKGP	1.0	7.0	unscreened	-	4345_1:43201549-43201549 T>A_QPYRPGPSAAARVPVVKLPASAKGP
15:28947794-28947794 T>C	0.0	4345	COLON	-	-	-	-	GOLGA8M	ENST00000563027,p.H489R|NM_001282468,p.H489R	protein_coding, processed_transcript	NM_001282468	nonsynonymous SNV	exon16	c.A1466G	p.H489R	ELRFIQYWQERCHQKIHHLLSEPGG	ELRFIQYWQERCRQKIHHLLSEPGG	4.0	7.0	unscreened	-	4345_15:28947794-28947794 T>C_ELRFIQYWQERCRQKIHHLLSEPGG
3:43389259-43389259 A>T	0.0	4345	COLON	-	-	-	-	SNRK	ENST00000454177,p.E503V|ENST00000296088,p.E503V|uc011azr.2,p.E297V|NM_001100594,p.E503V|ENST00000437827,p.E297V|NM_017719,p.E503V|uc010hik.3,p.E503V|uc003cms.4,p.E503V|uc003cmt.4,p.E503V|ENST00000429705,p.E503V	retained_intron, protein_coding, processed_transcript	uc011azr.2	nonsynonymous SNV	exon5	c.A890T	p.E297V	EEGESDDEFDMDENLPPKLSRLKMN	EEGESDDEFDMDVNLPPKLSRLKMN	6.0	5.0	-	-	4345_3:43389259-43389259 A>T_EEGESDDEFDMDVNLPPKLSRLKMN
17:72889649-72889649 ->GGTTCCATGGGCTCCGTA	0.0	4345	COLON	-	-	-	-	FADS6	NM_178128,p.P15delinsPTEPMEP|ENST00000310226,p.P15delinsPTEPMEP|uc002jmd.1,p.P15delinsPTEPMEP	retained_intron, protein_coding	uc002jmd.1	nonframeshift insertion	exon1	c.44_45insTACGGAGCCCATGGAACC	p.P15delinsPTEPMEP	PTEPMEPTEPMEPARSAHRGGEALL	PTEPMEPTEPMEPTEPMEPARSAHRGGEALL	2.0	7.0	unscreened	-	4345_17:72889649-72889649 ->GGTTCCATGGGCTCCGTA_PTEPMEPTEPMEPTEPMEPARSAHRGGEALL
11:48327994-48327994 A>T	0.0	4345	COLON	-	-	-	-	OR4S1	ENST00000319988,p.T74S|NM_001004725,p.T74S|uc010rhu.2,p.T74S	protein_coding	uc010rhu.2	nonsynonymous SNV	exon1	c.A220T	p.T74S	SQLSFADICYPSTTIPKMIADTFVE	SQLSFADICYPSSTIPKMIADTFVE	1.0	8.0	unscreened	-	4345_11:48327994-48327994 A>T_SQLSFADICYPSSTIPKMIADTFVE
X:54957271-54957271 A>C	0.0	4345	COLON	-	-	-	-	TRO	uc004dtq.4,p.S1372R|uc011mok.3,p.S903R|uc004dtw.4,p.S975R|NM_001271184,p.S975R|ENST00000420798,p.S903R|ENST00000173898,p.S1372R|NM_001271183,p.S903R|NM_001039705,p.S1372R|ENST00000375041,p.S975R|uc004dtx.4,p.S755R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011mok.3	nonsynonymous SNV	exon10	c.A2707C	p.S903R	GPSSIVGFSGGPSTGVGFCSGPSTS	GPSSIVGFSGGPRTGVGFCSGPSTS	4.0	8.0	unscreened	-	4345_X:54957271-54957271 A>C_GPSSIVGFSGGPRTGVGFCSGPSTS
2:172965531-172965531 A>C	0.0	4345	COLON	-	-	-	-	DLX2	ENST00000234198,p.F243V|NM_004405,p.F243V|uc002uhn.3,p.F243V	protein_coding	uc002uhn.3	nonsynonymous SNV	exon3	c.T727G	p.F243V	ASPPVSAPASWDFGVPQRMAGGGGP	ASPPVSAPASWDVGVPQRMAGGGGP	1.0	5.0	unscreened	-	4345_2:172965531-172965531 A>C_ASPPVSAPASWDVGVPQRMAGGGGP
11:66436416-66436416 T>G	0.0	4345	COLON	-	-	-	-	RBM4B	ENST00000525754,p.Q253H|NM_031492,p.Q253H|uc001oja.3,p.Q253H|uc001ojb.3,p.Q253H|ENST00000310046,p.Q253H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001ojb.3	nonsynonymous SNV	exon3	c.A759C	p.Q253H	YNYAEQTMSHLPQVQSTTVTSHLNS	YNYAEQTMSHLPHVQSTTVTSHLNS	7.0	6.0	-	-	4345_11:66436416-66436416 T>G_YNYAEQTMSHLPHVQSTTVTSHLNS
15:24922777-24922777 T>G	0.0	4345	COLON	-	-	-	-	NPAP1	uc001ywo.3,p.I588S|NM_018958,p.I588S|ENST00000329468,p.I588S	protein_coding	uc001ywo.3	nonsynonymous SNV	exon1	c.T1763G	p.I588S	VNMDTTAPSQVVIFTSSLSSRVSSL	VNMDTTAPSQVVSFTSSLSSRVSSL	1.0	7.0	unscreened	-	4345_15:24922777-24922777 T>G_VNMDTTAPSQVVSFTSSLSSRVSSL
3:97591349-97591349 C>A	0.0	4345	COLON	-	-	-	-	CRYBG3	NM_153605,p.F437L|ENST00000419587,p.F437L|uc021xbn.2,p.F437L	protein_coding	uc021xbn.2	nonsynonymous SNV	exon4	c.C1311A	p.F437L	ELVEPQGPAISDFSCSKSDGSDTTE	ELVEPQGPAISDLSCSKSDGSDTTE	4.0	6.0	-	-	4345_3:97591349-97591349 C>A_ELVEPQGPAISDLSCSKSDGSDTTE
11:4674699-4674699 G>A	0.0	4345	COLON	-	-	-	-	OR51E1	NM_152430,p.A315T|uc001lzi.4,p.A315T|uc021qcq.1,p.A315T|ENST00000396952,p.A315T	protein_coding	uc021qcq.1	nonsynonymous SNV	exon1	c.G943A	p.A315T	QRILRLFHVATHASEP	QRILRLFHVATHTSEP	1.0	8.0	unscreened	-	4345_11:4674699-4674699 G>A_QRILRLFHVATHTSEP
15:75980336-75980336 T>G	0.0	4345	COLON	-	-	-	-	CSPG4	ENST00000308508,p.S1024R|uc002baw.3,p.S1024R|NM_001897,p.S1024R	protein_coding	uc002baw.3	nonsynonymous SNV	exon3	c.A3070C	p.S1024R	QPVNDHAPVQTISRIFHVARGGRRL	QPVNDHAPVQTIRRIFHVARGGRRL	3.0	4.0	unscreened	-	4345_15:75980336-75980336 T>G_QPVNDHAPVQTIRRIFHVARGGRRL
1:237813258-237813258 G>T	0.0	4345	COLON	-	-	-	-	RYR2	ENST00000360064,p.A2530S|ENST00000366574,p.A2532S|ENST00000542537,p.A2516S|NM_001035,p.A2532S|uc001hyl.1,p.A2532S	protein_coding, processed_transcript	uc001hyl.1	nonsynonymous SNV	exon50	c.G7594T	p.A2532S	LCTAVLPLLTRCAPLFAGTEHHASL	LCTAVLPLLTRCSPLFAGTEHHASL	3.0	8.0	unscreened	-	4345_1:237813258-237813258 G>T_LCTAVLPLLTRCSPLFAGTEHHASL
6:28120094-28120094 T>G	0.0	4345	COLON	-	-	-	-	ZKSCAN8	uc010jqy.2,p.L49R|ENST00000330236,p.L236R|NM_001278121,p.L49R|NM_001278119,p.L236R|uc010jqx.2,p.L236R|NM_006298,p.L236R|ENST00000457389,p.L236R|uc011dkz.2,p.L49R|uc003nkn.2,p.L236R|NM_001278122,p.L49R	protein_coding	uc011dkz.2	nonsynonymous SNV	exon6	c.T146G	p.L49R	DMAVSLIREEWLLDPSQKDLCRDNR	DMAVSLIREEWLRDPSQKDLCRDNR	8.0	3.0	-	-	4345_6:28120094-28120094 T>G_DMAVSLIREEWLRDPSQKDLCRDNR
11:64824895-64824895 A>G	0.0	4345	COLON	-	-	-	-	NAALADL1	ENST00000358658,p.L184P|ENST00000339885,p.L184P|NM_005468,p.L184P|ENST00000355369,p.L184P|ENST00000356632,p.L184P|uc001ocn.3,p.L184P|ENST00000340252,p.L184P	retained_intron, protein_coding, nonsense_mediated_decay	uc001ocn.3	nonsynonymous SNV	exon4	c.T551C	p.L184P	EDFKELQTQGIKLEGTIALTRYGGV	EDFKELQTQGIKPEGTIALTRYGGV	5.0	6.0	-	-	4345_11:64824895-64824895 A>G_EDFKELQTQGIKPEGTIALTRYGGV
6:102074431-102074431 T>C	0.0	4345	COLON	-	-	-	-	GRIK2	uc021zdj.1,p.S154P|ENST00000358361,p.S154P|ENST00000421544,p.S154P|uc003pqo.4,p.S154P|NM_175768,p.S154P|NM_001166247,p.S154P|uc021zdk.1,p.S154P|uc003pqp.4,p.S154P|uc003pqn.3,p.S154P|NM_021956,p.S154P|ENST00000369138,p.S154P|uc010kcw.3,p.S154P|ENST00000413795,p.S154P|ENST00000369137,p.S154P|ENST00000369134,p.S105P|ENST00000318991,p.S154P	retained_intron, protein_coding	uc021zdk.1	nonsynonymous SNV	exon3	c.T460C	p.S154P	KDSFYVSLYPDFSSLSRAILDLVQF	KDSFYVSLYPDFPSLSRAILDLVQF	4.0	2.0	unscreened	-	4345_6:102074431-102074431 T>C_KDSFYVSLYPDFPSLSRAILDLVQF
2:234741893-234741893 A>C	0.0	4345	COLON	-	-	-	-	MROH2A	ENST00000389758,p.Q1673H|uc002vvf.3,p.Q299H|NM_001287395,p.Q1685H	retained_intron, protein_coding, processed_transcript	uc002vvf.3	nonsynonymous SNV	exon7	c.A897C	p.Q299H	DSCSQHGFLASPQGMS	DSCSQHGFLASPHGMS	1.0	8.0	unscreened	-	4345_2:234741893-234741893 A>C_DSCSQHGFLASPHGMS
11:1093061-1093061 C>T	0.0	4345	COLON	-	-	-	-	MUC2	ENST00000359061,p.P1594L	protein_coding	ENST00000359061	nonsynonymous SNV	exon31	c.C4781T	p.P1594L	PTSTPITTTTTTPTPTAITTTTTVT	PTSTPITTTTTTLTPTAITTTTTVT	3.0	8.0	unscreened	-	4345_11:1093061-1093061 C>T_PTSTPITTTTTTLTPTAITTTTTVT
2:233351294-233351294 C>T	0.0	4345	COLON	-	-	-	-	ECEL1	ENST00000304546,p.G24S|NM_001290787,p.G24S|uc002vsv.2,p.G24S|uc010fya.1,p.G24S|NM_004826,p.G24S|ENST00000409941,p.G24S	retained_intron, protein_coding	uc010fya.1	nonsynonymous SNV	exon1	c.G70A	p.G24S	DEFQEVKYVSRCGAGGARGASLPPG	DEFQEVKYVSRCSAGGARGASLPPG	1.0	8.0	unscreened	-	4345_2:233351294-233351294 C>T_DEFQEVKYVSRCSAGGARGASLPPG
11:1093061-1093061 C>T	0.0	4345	COLON	-	-	-	-	MUC2	ENST00000441003,p.P1627L	protein_coding	ENST00000441003	nonsynonymous SNV	exon30	c.C4880T	p.P1627L	VTPTPTPTGTQTPTPTAITTTTTVT	VTPTPTPTGTQTLTPTAITTTTTVT	3.0	8.0	unscreened	-	4345_11:1093061-1093061 C>T_VTPTPTPTGTQTLTPTAITTTTTVT
1:63790009-63790009 C>T	0.0	4345	COLON	-	-	-	-	FOXD3	uc001dax.2,p.A427V|ENST00000371116,p.A427V|NM_012183,p.A427V	protein_coding	uc001dax.2	nonsynonymous SNV	exon1	c.C1280T	p.A427V	SFLRPPGTVQSAALMATHQPLSLSR	SFLRPPGTVQSAVLMATHQPLSLSR	1.0	7.0	unscreened	-	4345_1:63790009-63790009 C>T_SFLRPPGTVQSAVLMATHQPLSLSR
9:113139625-113139625 T>C	0.0	4345	COLON	-	-	-	-	SVEP1	ENST00000374469,p.Q3454R|ENST00000297826,p.Q1403R|ENST00000401783,p.Q3477R|uc010mty.3,p.Q1403R|NM_153366,p.Q3477R|uc010mtz.3,p.Q3477R	protein_coding, processed_transcript	uc010mtz.3	nonsynonymous SNV	exon45	c.A10430G	p.Q3477R	PPICRAVCRFPCQNGGICQRPNACS	PPICRAVCRFPCRNGGICQRPNACS	4.0	7.0	unscreened	-	4345_9:113139625-113139625 T>C_PPICRAVCRFPCRNGGICQRPNACS
5:140503160-140503160 A>C	0.0	4345	COLON	-	-	-	-	PCDHB4	NM_018938,p.E527A|ENST00000194152,p.E527A|uc003lip.1,p.E527A	protein_coding	uc003lip.1	nonsynonymous SNV	exon1	c.A1580C	p.E527A	LRSLDYEALQAFEFRVGASDRGSPA	LRSLDYEALQAFAFRVGASDRGSPA	5.0	3.0	unscreened	-	4345_5:140503160-140503160 A>C_LRSLDYEALQAFAFRVGASDRGSPA
6:28499572-28499572 G>C	0.0	4345	COLON	-	-	ID=COSM595816;OCCURENCE=1(lung)	-	GPX5	uc003nll.2,p.E87Q|NM_001509,p.E87Q|ENST00000412168,p.E87Q	protein_coding, processed_transcript	uc003nll.2	nonsynonymous SNV	exon3	c.G259C	p.E87Q	LTAQYPELNALQEELKPYGLVVLGF	LTAQYPELNALQQELKPYGLVVLGF	1.0	7.0	unscreened	-	4345_6:28499572-28499572 G>C_LTAQYPELNALQQELKPYGLVVLGF
4:77274400-77274400 A>C	0.0	4345	COLON	-	-	-	-	CCDC158	uc003hkb.4,p.L774R|ENST00000388914,p.L774R|NM_001042784,p.L774R	retained_intron, protein_coding, processed_transcript	uc003hkb.4	nonsynonymous SNV	exon15	c.T2321G	p.L774R	KEKHFLKEEKSKLSQELSTVATEKN	KEKHFLKEEKSKRSQELSTVATEKN	1.0	4.0	unscreened	-	4345_4:77274400-77274400 A>C_KEKHFLKEEKSKRSQELSTVATEKN
1:43201549-43201549 T>A	0.0	4345	COLON	-	-	-	-	CLDN19	ENST00000372539,p.E209V|uc001chu.2,p.E209V|NM_001123395,p.E209V	protein_coding	uc001chu.2	nonsynonymous SNV	exon4	c.A626T	p.E209V	QPYRPGPSAAAREYV	QPYRPGPSAAARVYV	1.0	7.0	unscreened	-	4345_1:43201549-43201549 T>A_QPYRPGPSAAARVYV
7:48452038-48452038 A>G	0.0	4345	COLON	-	-	-	-	ABCA13	uc031sxg.1,p.D1787G|uc003toq.2,p.D4106G|ENST00000435803,p.D4106G|uc010kys.2,p.D1787G|uc031sxh.1,p.D1787G|NM_152701,p.D4106G	retained_intron, protein_coding, nonsense_mediated_decay	uc031sxh.1	nonsynonymous SNV	exon24	c.A5360G	p.D1787G	LIKIYIPQAFLKDSSGSELTYTIPK	LIKIYIPQAFLKGSSGSELTYTIPK	2.0	1.0	unscreened	-	4345_7:48452038-48452038 A>G_LIKIYIPQAFLKGSSGSELTYTIPK
10:104141815-104141815 T>G	0.0	4345	COLON	-	-	-	-	GBF1	uc001kuy.2,p.F1764V|NM_004193,p.F1768V|uc001kuz.2,p.F1765V|ENST00000369983,p.F1768V|NM_001199379,p.F1764V|uc001kux.2,p.F1768V|NM_001199378,p.F1765V	protein_coding, processed_transcript	uc001kuz.2	nonsynonymous SNV	exon40	c.T5293G	p.F1765V	PPEIPSELGACDFEKPESPRAASSS	PPEIPSELGACDVEKPESPRAASSS	7.0	7.0	-	-	4345_10:104141815-104141815 T>G_PPEIPSELGACDVEKPESPRAASSS
19:35786693-35786693 A>T	0.0	4345	COLON	-	-	-	-	MAG	ENST00000361922,p.K75M|uc002nyz.2,p.K75M|NM_001199216,p.K50M|uc002nyy.2,p.K75M|ENST00000595791,p.K75M|ENST00000392213,p.K75M|ENST00000600291,p.K50M|uc010eds.2,p.K50M|uc002nyx.2,p.K75M|NM_080600,p.K75M|ENST00000537831,p.K50M|NM_002361,p.K75M	retained_intron, protein_coding, processed_transcript	uc010eds.2	nonsynonymous SNV	exon4	c.A149T	p.K50M	SPYPKNYPPVVFKSRTQVVHESFQG	SPYPKNYPPVVFMSRTQVVHESFQG	2.0	3.0	unscreened	-	4345_19:35786693-35786693 A>T_SPYPKNYPPVVFMSRTQVVHESFQG
1:152189310-152189310 C>T	1.0	4345	COLON	-	rs60129677	-	-	HRNR	uc001ezt.2,p.G1599S|ENST00000368801,p.G1599S|NM_001009931,p.G1599S	protein_coding	uc001ezt.2	nonsynonymous SNV	exon3	c.G4795A	p.G1599S	RQGSGSGQSPGHGQRGSGSRQSPSY	RQGSGSGQSPGHSQRGSGSRQSPSY	1.0	7.0	unscreened	-	4345_1:152189310-152189310 C>T_RQGSGSGQSPGHSQRGSGSRQSPSY
6:87970666-87970666 A>G	1.0	4345	COLON	-	-	-	-	ZNF292	ENST00000369577,p.E2440G|ENST00000339907,p.E2435G|uc003plm.4,p.E2440G|NM_015021,p.E2440G	protein_coding, processed_transcript	uc003plm.4	nonsynonymous SNV	exon8	c.A7319G	p.E2440G	KRCCNSQVKETSEQEGAKNDVKDSD	KRCCNSQVKETSGQEGAKNDVKDSD	8.0	5.0	-	-	4345_6:87970666-87970666 A>G_KRCCNSQVKETSGQEGAKNDVKDSD
1:9777660-9777660 A>C	0.0	4345	COLON	-	-	-	-	PIK3CD	ENST00000536656,p.K297N|NM_005026,p.K332N|uc010oaf.2,p.K332N|uc001aqe.4,p.K297N|ENST00000361110,p.K297N|uc001aqb.4,p.K332N|ENST00000377346,p.K332N|uc021ogb.1,p.K116N	retained_intron, protein_coding, processed_transcript	uc021ogb.1	nonsynonymous SNV	exon7	c.A348C	p.K116N	EQPFRIELIQGSKVNADERMKLVVQ	EQPFRIELIQGSNVNADERMKLVVQ	5.0	5.0	-	-	4345_1:9777660-9777660 A>C_EQPFRIELIQGSNVNADERMKLVVQ
14:58604816-58604816 A>G	0.0	4345	COLON	-	-	-	-	C14orf37	uc001xde.3,p.F421L|uc001xdd.3,p.F421L|ENST00000267485,p.F421L|uc010tro.2,p.F459L|NM_001001872,p.F421L|uc001xdc.3,p.F421L	retained_intron, protein_coding, processed_transcript	uc010tro.2	nonsynonymous SNV	exon3	c.T1375C	p.F459L	VSIVNLLQSTGDFTESTKENDALFF	VSIVNLLQSTGDLTESTKENDALFF	4.0	2.0	unscreened	-	4345_14:58604816-58604816 A>G_VSIVNLLQSTGDLTESTKENDALFF
1:207850880-207850880 T>G	0.0	4345	COLON	-	-	-	-	CR1L	uc001hga.4,p.S82A|NM_175710,p.S82A|ENST00000294997,p.S26A|ENST00000508064,p.S82A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001hga.4	nonsynonymous SNV	exon2	c.T244G	p.S82A	SGRPFSIICLKNSVWTSAKDKCKRK	SGRPFSIICLKNAVWTSAKDKCKRK	4.0	2.0	unscreened	-	4345_1:207850880-207850880 T>G_SGRPFSIICLKNAVWTSAKDKCKRK
14:99642101-99642101 A>G	0.0	4345	COLON	-	-	-	1	BCL11B	uc031qqi.1,p.S286P|NM_022898,p.S287P|ENST00000443726,p.S164P|ENST00000357195,p.S358P|NM_001282237,p.S357P|uc001yga.3,p.S358P|NM_001282238,p.S286P|ENST00000345514,p.S287P|NM_138576,p.S358P|uc001ygb.3,p.S287P|uc031qqh.1,p.S357P	protein_coding	uc031qqi.1	nonsynonymous SNV	exon3	c.T856C	p.S286P	DRVMRLNPMAIDSPAMDFSRRLREL	DRVMRLNPMAIDPPAMDFSRRLREL	5.0	3.0	unscreened	-	4345_14:99642101-99642101 A>G_DRVMRLNPMAIDPPAMDFSRRLREL
10:97810020-97810020 A>C	0.0	4345	COLON	-	-	-	-	CCNJ	NM_001134375,p.K26T|NM_019084,p.K26T|ENST00000534974,p.K26T|NM_001134376,p.K26T|ENST00000465148,p.K26T|uc010qoq.2,p.K26T|ENST00000403870,p.K26T|ENST00000265992,p.K26T|uc001kln.3,p.K26T|uc001klm.3,p.K26T	protein_coding, processed_transcript, nonsense_mediated_decay	uc010qoq.2	nonsynonymous SNV	exon3	c.A77C	p.K26T	ADIHQALRYKELKLPSYKGQSPQLS	ADIHQALRYKELTLPSYKGQSPQLS	4.0	6.0	-	-	4345_10:97810020-97810020 A>C_ADIHQALRYKELTLPSYKGQSPQLS
16:20566637-20566637 A>C	0.0	4345	COLON	-	-	-	-	ACSM2B	NM_001105069,p.S184A|ENST00000329697,p.S184A|ENST00000565322,p.S105A|ENST00000567001,p.S184A|ENST00000569327,p.S184A|ENST00000565232,p.S184A|uc002dhj.4,p.S184A|ENST00000414188,p.S184A|NM_182617,p.S184A|uc002dhk.4,p.S184A|uc010bwf.1,p.S184A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010bwf.1	nonsynonymous SNV	exon4	c.T550G	p.S184A	SECPSLRIKLLVSEKSCDGWLNFKK	SECPSLRIKLLVAEKSCDGWLNFKK	1.0	1.0	unscreened	-	4345_16:20566637-20566637 A>C_SECPSLRIKLLVAEKSCDGWLNFKK
21:14982694-14982694 C>A	0.0	4345	COLON	-	-	-	-	POTED	ENST00000299443,p.H49N|uc002yjb.1,p.H49N|NM_174981,p.H49N	protein_coding	uc002yjb.1	nonsynonymous SNV	exon1	c.C145A	p.H49N	GSGKSNMGTSGDHDDSFMKMLRSKM	GSGKSNMGTSGDNDDSFMKMLRSKM	3.0	6.0	unscreened	-	4345_21:14982694-14982694 C>A_GSGKSNMGTSGDNDDSFMKMLRSKM
17:39254126-39254126 C>T	0.0	4345	COLON	-	-	-	-	KRTAP4-8	NM_031960,p.V71M|uc010wfo.2,p.V71M|ENST00000333822,p.V71M	protein_coding	uc010wfo.2	nonsynonymous SNV	exon1	c.G211A	p.V71M	CCQPTCCRPSCCVSSCCKPQCCQSV	CCQPTCCRPSCCMSSCCKPQCCQSV	1.0	7.0	unscreened	-	4345_17:39254126-39254126 C>T_CCQPTCCRPSCCMSSCCKPQCCQSV
15:34159896-34159896 T>C	0.0	4345	COLON	-	-	-	-	AVEN	uc001zhj.3,p.D258G|ENST00000306730,p.D258G|NM_020371,p.D258G	protein_coding, processed_transcript, nonsense_mediated_decay	uc001zhj.3	nonsynonymous SNV	exon5	c.A773G	p.D258G	SVAAGCPVLLGKDNPSPGPSRDSQK	SVAAGCPVLLGKGNPSPGPSRDSQK	5.0	7.0	-	-	4345_15:34159896-34159896 T>C_SVAAGCPVLLGKGNPSPGPSRDSQK
1:175048597-175048597 C>T	0.0	4345	COLON	-	-	-	-	TNN	uc010pmx.1,p.R180C|uc001gkl.1,p.R180C|ENST00000239462,p.R180C|NM_022093,p.R180C	protein_coding	uc010pmx.1	nonsynonymous SNV	exon2	c.C538T	p.R180C	RLACPGACSGHGRCVDGRCLCHEPY	RLACPGACSGHGCCVDGRCLCHEPY	2.0	7.0	unscreened	-	4345_1:175048597-175048597 C>T_RLACPGACSGHGCCVDGRCLCHEPY
3:138763308-138763308 G>A	0.0	4345	COLON	-	-	-	-	PRR23C	ENST00000502927,p.P52L|ENST00000413199,p.P52L|uc011bmt.1,p.P52L|NM_001134657,p.P52L	protein_coding	uc011bmt.1	nonsynonymous SNV	exon1	c.C155T	p.P52L	RAAPSPEDPAGTPAVDALTSMVVLD	RAAPSPEDPAGTLAVDALTSMVVLD	1.0	6.0	unscreened	-	4345_3:138763308-138763308 G>A_RAAPSPEDPAGTLAVDALTSMVVLD
4:3422405-3422405 A>G	0.0	4345	COLON	-	-	-	-	RGS12	NM_198229,p.E933G|ENST00000336727,p.E933G|NM_198227,p.E285G|ENST00000538395,p.E275G|uc011bvs.2,p.E275G|ENST00000344733,p.E933G|uc010icv.3,p.E132G|uc003ggy.1,p.E331G|ENST00000338806,p.E285G|ENST00000306648,p.E331G|uc003ggw.3,p.E933G|ENST00000382788,p.E933G|NM_002926,p.E933G|uc003gha.3,p.E275G|uc003ggz.3,p.E285G|uc010icu.1,p.E132G|uc003ggv.3,p.E933G|uc003ghb.2,p.E132G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bvs.2	nonsynonymous SNV	exon7	c.A824G	p.E275G	DALHANGGLCRRESQGSVSSAGSLD	DALHANGGLCRRGSQGSVSSAGSLD	6.0	5.0	-	-	4345_4:3422405-3422405 A>G_DALHANGGLCRRGSQGSVSSAGSLD
12:110566889-110566889 C>G	0.0	4345	COLON	-	-	-	-	IFT81	ENST00000361948,p.P128R|NM_014055,p.P128R|uc001tqg.3,p.P128R|ENST00000552912,p.P128R|ENST00000242591,p.P128R|uc001tqh.3,p.P128R|uc001tqi.3,p.P128R|NM_031473,p.P128R|ENST00000546374,p.P128R|NM_001143779,p.P128R	protein_coding, processed_transcript, nonsense_mediated_decay	uc001tqi.3	nonsynonymous SNV	exon4	c.C383G	p.P128R	AYLARFLIKLEVPSEFLQDETVADT	AYLARFLIKLEVRSEFLQDETVADT	6.0	2.0	-	-	4345_12:110566889-110566889 C>G_AYLARFLIKLEVRSEFLQDETVADT
4:38776686-38776686 T>G	0.0	4345	COLON	-	-	-	-	TLR10	ENST00000361424,p.T176P|uc021xnl.1,p.T176P|NM_001195107,p.T176P|NM_030956,p.T176P|uc021xnm.1,p.T176P|uc003gtj.3,p.T176P|NM_001195108,p.T162P|NM_001017388,p.T176P|ENST00000506111,p.T176P|ENST00000308973,p.T176P|uc021xnk.1,p.T162P|ENST00000508334,p.T176P|NM_001195106,p.T176P|uc003gtk.3,p.T176P|uc003gti.3,p.T176P	protein_coding, processed_transcript	uc021xnm.1	nonsynonymous SNV	exon1	c.A526C	p.T176P	HLHLNTVFLGFRTLPHYEEGSLPIL	HLHLNTVFLGFRPLPHYEEGSLPIL	2.0	5.0	unscreened	-	4345_4:38776686-38776686 T>G_HLHLNTVFLGFRPLPHYEEGSLPIL
1:26671506-26671556 ACCTCTTTCCAGGTGGGAAATGAGGCATCAGGAGCACCGGGGCCCTTCACG>-	0.0	4345	COLON	-	-	-	-	AIM1L	NM_001039775,p.531_548del|uc001bmd.4,p.531_548del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001bmd.4	nonframeshift deletion	exon2	c.1593_1643del	p.531_548del	SAPAASSPTWKEVVKGPGAPDASFP	SAPAASSPTWKEVVKGPGAPAASSP	6.0	7.0	-	Snps within 36 nucleotides, 1:26671578-26671578 A>G, residue 6 L>S, 1:26671575-26671575 A>G, residue 7 F>S PR	4345_1:26671506-26671556 ACCTCTTTCCAGGTGGGAAATGAGGCATCAGGAGCACCGGGGCCCTTCACG>-_SAPAASSPTWKEVVKGPGAPAASSP
5:140480346-140480346 A>G	0.0	4345	COLON	-	-	-	-	PCDHB3	ENST00000231130,p.E38G|NM_018937,p.E38G|uc003lio.3,p.E38G	protein_coding	uc003lio.3	nonsynonymous SNV	exon1	c.A113G	p.E38G	AGSESRRYSVAEEKEKGFLIANLAK	AGSESRRYSVAEGKEKGFLIANLAK	5.0	5.0	unscreened	-	4345_5:140480346-140480346 A>G_AGSESRRYSVAEGKEKGFLIANLAK
6:29571438-29571438 C>T	0.0	4345	COLON	-	-	ID=COSM184854;OCCURENCE=1(large_intestine)	-	GABBR1	uc003nmu.4,p.R861H|ENST00000377016,p.R861H|NM_021904,p.R861H|ENST00000377012,p.R806H|ENST00000377034,p.R923H|uc011dlr.2,p.R746H|uc003nmt.4,p.R923H|uc003nmp.4,p.R806H|ENST00000355973,p.R806H|NM_001470,p.R923H|uc003nms.4,p.R806H|NM_021903,p.R806H	retained_intron, protein_coding, nonsense_mediated_decay	uc011dlr.2	nonsynonymous SNV	exon23	c.G2237A	p.R746H	ELRHQLQSRQQLRSRRHPPTPPEPS	ELRHQLQSRQQLHSRRHPPTPPEPS	5.0	6.0	-	-	4345_6:29571438-29571438 C>T_ELRHQLQSRQQLHSRRHPPTPPEPS
14:64488081-64488081 T>G	1.0	4345	COLON	-	-	-	-	SYNE2	ENST00000358025,p.L1734V|uc001xgm.3,p.L1734V|uc021ruh.1,p.L1734V|ENST00000554584,p.L1734V|uc001xgl.3,p.L1734V|ENST00000344113,p.L1734V|NM_015180,p.L1734V|NM_182914,p.L1734V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021ruh.1	nonsynonymous SNV	exon35	c.T5200G	p.L1734V	SILNKMEHVQKCLTGESNCHALSGS	SILNKMEHVQKCVTGESNCHALSGS	10.0	6.0	-	-	4345_14:64488081-64488081 T>G_SILNKMEHVQKCVTGESNCHALSGS
6:39847179-39847179 G>A	0.0	4345	COLON	-	-	-	-	DAAM2	uc010jxc.3,p.V591I|uc003oow.3,p.V591I|NM_001201427,p.V591I|uc003oox.3,p.V591I|ENST00000398904,p.V591I|NM_015345,p.V591I|ENST00000538976,p.V591I|ENST00000274867,p.V591I	retained_intron, protein_coding, processed_transcript	uc010jxc.3	nonsynonymous SNV	exon14	c.G1771A	p.V591I	LPLPQDPYPSSDVPLRKKRVPQPSH	LPLPQDPYPSSDIPLRKKRVPQPSH	3.0	5.0	unscreened	-	4345_6:39847179-39847179 G>A_LPLPQDPYPSSDIPLRKKRVPQPSH
6:38843536-38843536 A>G	0.0	4345	COLON	-	-	-	-	DNAH8	ENST00000441566,p.K2344R|ENST00000359357,p.K2380R|NM_001206927,p.K2597R|uc021yzh.1,p.K2597R|ENST00000449981,p.K2597R|uc003ooe.2,p.K2380R|ENST00000327475,p.K2585R	protein_coding	uc021yzh.1	nonsynonymous SNV	exon53	c.A7790G	p.K2597R	EKLEAFLRQHESKLDLPEIPKGSNQ	EKLEAFLRQHESRLDLPEIPKGSNQ	1.0	2.0	unscreened	-	4345_6:38843536-38843536 A>G_EKLEAFLRQHESRLDLPEIPKGSNQ
X:72433000-72433000 T>G	0.0	4345	COLON	-	-	-	-	NAP1L2	ENST00000373517,p.E443D|NM_021963,p.E443D|uc004ebi.3,p.E443D|ENST00000536638,p.E301D	protein_coding	uc004ebi.3	nonsynonymous SNV	exon1	c.A1329C	p.E443D	KIIYDNWMAAIEEVKACCKNLEALV	KIIYDNWMAAIEDVKACCKNLEALV	1.0	5.0	unscreened	-	4345_X:72433000-72433000 T>G_KIIYDNWMAAIEDVKACCKNLEALV
7:77407668-77407668 C>T	0.0	4345	COLON	-	-	-	-	RSBN1L	ENST00000334955,p.R603C|NM_198467,p.R603C|ENST00000445288,p.R333C|ENST00000445512,p.R141C|ENST00000441514,p.R109C|uc010ldt.1,p.R603C	retained_intron, protein_coding	uc010ldt.1	nonsynonymous SNV	exon7	c.C1807T	p.R603C	KAVHCGEWPDQPRITKDVICFHAED	KAVHCGEWPDQPCITKDVICFHAED	7.0	6.0	-	-	4345_7:77407668-77407668 C>T_KAVHCGEWPDQPCITKDVICFHAED
17:36718350-36718350 T>C	1.0	4345	COLON	-	-	-	-	SRCIN1	uc002hqd.3,p.E350G|ENST00000264659,p.E350G|NM_025248,p.E350G|uc002hqe.2,p.E204G|ENST00000578925,p.E384G|ENST00000584266,p.E410G|uc002hqh.1,p.E410G|uc002hqf.1,p.E222G	retained_intron, protein_coding, processed_transcript	uc002hqh.1	nonsynonymous SNV	exon7	c.A1229G	p.E410G	PSYAGSPVHHAAERLGGAPAAQGVS	PSYAGSPVHHAAGRLGGAPAAQGVS	5.0	6.0	-	-	4345_17:36718350-36718350 T>C_PSYAGSPVHHAAGRLGGAPAAQGVS
18:42643071-42643071 A>C	0.0	4345	COLON	-	-	-	1	SETBP1	NM_015559,p.K1400T|ENST00000282030,p.K1400T|uc010dni.3,p.K1400T	protein_coding	uc010dni.3	nonsynonymous SNV	exon6	c.A4199C	p.K1400T	SDAVGSSLKKRFKRREIEAIQCEVR	SDAVGSSLKKRFTRREIEAIQCEVR	5.0	3.0	-	-	4345_18:42643071-42643071 A>C_SDAVGSSLKKRFTRREIEAIQCEVR
7:98249064-98249064 A>G	0.0	4345	COLON	-	-	-	-	NPTX2	uc003upl.2,p.E179G|NM_002523,p.E179G|ENST00000265634,p.E179G	retained_intron, protein_coding	uc003upl.2	nonsynonymous SNV	exon2	c.A536G	p.E179G	GELERQLLRKVAELEDEKSLLHNET	GELERQLLRKVAGLEDEKSLLHNET	3.0	1.0	unscreened	-	4345_7:98249064-98249064 A>G_GELERQLLRKVAGLEDEKSLLHNET
3:14746024-14746024 T>G	0.0	4345	COLON	-	-	-	-	C3orf20	uc003byx.2,p.F305V	protein_coding, processed_transcript	uc003byx.2	nonsynonymous SNV	exon7	c.T913G	p.F305V	MCSDSQPHLSPIFCQPSFQSALSRG	MCSDSQPHLSPIVCQPSFQSALSRG	2.0	5.0	unscreened	-	4345_3:14746024-14746024 T>G_MCSDSQPHLSPIVCQPSFQSALSRG
12:54349129-54349129 A>G	0.0	4345	COLON	-	-	-	-	HOXC12	ENST00000243103,p.Y139C|uc010soq.2,p.Y139C|NM_173860,p.Y139C	protein_coding	uc010soq.2	nonsynonymous SNV	exon1	c.A416G	p.Y139C	LEPSGPPALGFKYDYAAGGGGGDGG	LEPSGPPALGFKCDYAAGGGGGDGG	3.0	6.0	unscreened	-	4345_12:54349129-54349129 A>G_LEPSGPPALGFKCDYAAGGGGGDGG
15:43724853-43724853 T>C	1.0	4345	COLON	-	-	-	-	TP53BP1	uc010udq.1,p.S1072G|ENST00000382044,p.S1072G|NM_005657,p.S1067G|ENST00000450115,p.S1072G|NM_001141980,p.S1072G|ENST00000263801,p.S1067G|uc001zrs.3,p.S1067G|uc010udp.2,p.S1067G|ENST00000382039,p.S1072G|NM_001141979,p.S1072G|uc001zrr.4,p.S1072G|uc001zrq.4,p.S1072G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010udq.1	nonsynonymous SNV	exon17	c.A3214G	p.S1072G	TTPIRGNLLHFPSSQGEEEKEKLEG	TTPIRGNLLHFPGSQGEEEKEKLEG	8.0	6.0	-	-	4345_15:43724853-43724853 T>C_TTPIRGNLLHFPGSQGEEEKEKLEG
10:112540582-112540582 A>C	0.0	4345	COLON	-	-	-	-	RBM20	NM_001134363,p.N72T|uc001kzf.2,p.N72T|ENST00000369519,p.N72T	retained_intron, protein_coding, processed_transcript	uc001kzf.2	nonsynonymous SNV	exon2	c.A215C	p.N72T	QIIQNAAKLLDKNPFSVSNPNPLLP	QIIQNAAKLLDKTPFSVSNPNPLLP	1.0	4.0	unscreened	-	4345_10:112540582-112540582 A>C_QIIQNAAKLLDKTPFSVSNPNPLLP
19:46319206-46319206 T>G	1.0	4345	COLON	-	-	-	-	SYMPK	uc002pdn.3,p.E1197A|ENST00000245934,p.E1197A|NM_004819,p.E1197A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002pdn.3	nonsynonymous SNV	exon26	c.A3590C	p.E1197A	SEEAMDFREEGPECETPGIFISMDD	SEEAMDFREEGPACETPGIFISMDD	9.0	4.0	-	-	4345_19:46319206-46319206 T>G_SEEAMDFREEGPACETPGIFISMDD
1:152186402-152186402 C>A	0.0	4345	COLON	-	-	-	-	HRNR	uc001ezt.2,p.G2568V|ENST00000368801,p.G2568V|NM_001009931,p.G2568V	protein_coding	uc001ezt.2	nonsynonymous SNV	exon3	c.G7703T	p.G2568V	SGSGRSSSSGQHGSGLGESSGFGHH	SGSGRSSSSGQHVSGLGESSGFGHH	1.0	5.0	unscreened	-	4345_1:152186402-152186402 C>A_SGSGRSSSSGQHVSGLGESSGFGHH
6:138656191-138656191 T>G	0.0	4345	COLON	-	-	-	-	KIAA1244	NM_020340,p.L2070V|ENST00000251691,p.L2070V|uc003qhu.3,p.L2070V	protein_coding	uc003qhu.3	nonsynonymous SNV	exon33	c.T6208G	p.L2070V	GQDSPLLQRPQHLMDQGQMRHSFSA	GQDSPLLQRPQHVMDQGQMRHSFSA	5.0	4.0	-	-	4345_6:138656191-138656191 T>G_GQDSPLLQRPQHVMDQGQMRHSFSA
X:26213040-26213040 G>C	0.0	4345	COLON	-	-	-	-	MAGEB6	uc022buc.1,p.W359C|ENST00000379034,p.W359C|NM_173523,p.W359C|uc004dbr.3,p.W359C	protein_coding	uc022buc.1	nonsynonymous SNV	exon1	c.G1077C	p.W359C	VCNSDPPCYEFLWGPRAYAETTKMR	VCNSDPPCYEFLCGPRAYAETTKMR	1.0	4.0	unscreened	-	4345_X:26213040-26213040 G>C_VCNSDPPCYEFLCGPRAYAETTKMR
17:37119193-37119193 T>G	0.0	4345	COLON	-	-	-	-	FBXO47	uc002hrc.2,p.K29T|NM_001008777,p.K29T|ENST00000378079,p.K29T	protein_coding	uc002hrc.2	nonsynonymous SNV	exon2	c.A86C	p.K29T	LRRSNRQTSCYSKTLGSGFQPISTF	LRRSNRQTSCYSTTLGSGFQPISTF	1.0	2.0	unscreened	-	4345_17:37119193-37119193 T>G_LRRSNRQTSCYSTTLGSGFQPISTF
19:37879855-37879855 ->GCA	0.0	4345	COLON	-	-	-	-	ZNF527	ENST00000436120,p.Y302delinsCN|NM_032453,p.Y302delinsCN|uc002ogf.3,p.Y270delinsCN|uc010efk.1,p.Y302delinsCN	protein_coding, processed_transcript, nonsense_mediated_decay	uc010efk.1	nonframeshift insertion	exon5	c.904_905insGCA	p.Y302delinsCN	TQPQRIHSGEKPYACNDCGKAFSHD	TQPQRIHSGEKPCNACNDCGKAFSHD	4.0	3.0	unscreened	-	4345_19:37879855-37879855 ->GCA_TQPQRIHSGEKPCNACNDCGKAFSHD
2:219508301-219508301 A>T	0.0	4345	COLON	-	-	-	-	ZNF142	uc002vim.4,p.C817S|uc002vil.3,p.C941S|ENST00000449707,p.C980S|NM_001105537,p.C980S|uc002vin.4,p.C980S|ENST00000411696,p.C980S|uc010fvt.4,p.C817S	protein_coding, nonsense_mediated_decay	uc010fvt.4	nonsynonymous SNV	exon9	c.T2449A	p.C817S	GNSLPTEAPKKHCFDPVPPAGNSSP	GNSLPTEAPKKHSFDPVPPAGNSSP	5.0	5.0	-	-	4345_2:219508301-219508301 A>T_GNSLPTEAPKKHSFDPVPPAGNSSP
12:64485689-64485689 T>A	1.0	4345	COLON	-	-	-	-	SRGAP1	ENST00000543397,p.S445T|ENST00000357825,p.S485T|uc001srv.2,p.S445T	retained_intron, protein_coding	uc001srv.2	nonsynonymous SNV	exon11	c.T1333A	p.S445T	AEYMTTSRGRRNSHTRHQDSGQVIP	AEYMTTSRGRRNTHTRHQDSGQVIP	8.0	4.0	-	-	4345_12:64485689-64485689 T>A_AEYMTTSRGRRNTHTRHQDSGQVIP
7:153750071-153750071 ->GCG	0.0	4345	COLON	-	-	-	-	DPP6	uc003wlk.3,p.R56delinsRG|ENST00000406326,p.R56delinsRG|NM_001290253,p.R56delinsRG|NM_130797,p.R56delinsRG|ENST00000377770,p.R56delinsRG|uc003wlj.3,p.R56delinsRG	retained_intron, protein_coding, processed_transcript	uc003wlk.3	nonframeshift insertion	exon1	c.166_167insGCG	p.R56delinsRG	LGPRAQAAAPRERGGGGGGAGGRPR	LGPRAQAAAPRERGGGGGGGAGGRPR	1.0	6.0	unscreened	-	4345_7:153750071-153750071 ->GCG_LGPRAQAAAPRERGGGGGGGAGGRPR
11:61183791-61183791 T>C	1.0	4345	COLON	-	-	-	-	CPSF7	ENST00000394888,p.S251G|ENST00000340437,p.S294G|uc001nrr.3,p.S242G|uc001nrp.3,p.S294G|uc001nrq.3,p.S251G|ENST00000439958,p.S242G|NM_001142565,p.S242G|ENST00000539952,p.S242G|ENST00000448745,p.S242G|NM_024811,p.S294G|NM_001136040,p.S251G|uc001nrs.1,p.S152G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001nrs.1	nonsynonymous SNV	exon6	c.A454G	p.S152G	PPPIPPPPPLSSSFGVPPPPPGIHY	PPPIPPPPPLSSGFGVPPPPPGIHY	8.0	2.0	-	-	4345_11:61183791-61183791 T>C_PPPIPPPPPLSSGFGVPPPPPGIHY
6:46658300-46658300 C>T	0.0	4345	COLON	-	-	-	-	TDRD6	ENST00000316081,p.T812I|NM_001168359,p.T812I|uc010jze.3,p.T812I|NM_001010870,p.T812I|ENST00000544460,p.T812I|uc003oyj.3,p.T812I	protein_coding	uc010jze.3	nonsynonymous SNV	exon1	c.C2435T	p.T812I	TLMSDIQYYCKNTAAPHQRNTLACL	TLMSDIQYYCKNIAAPHQRNTLACL	2.0	3.0	unscreened	-	4345_6:46658300-46658300 C>T_TLMSDIQYYCKNIAAPHQRNTLACL
4:70465010-70465010 T>G	0.0	4345	COLON	-	-	-	-	UGT2A1,UGT2A2	uc003hem.4,p.E273A|NM_001252274,p.E483A|uc021xox.1,p.E282A|NM_001301233,p.E282A|ENST00000286604,p.E317A|ENST00000512704,p.E273A|NM_001301239,p.E273A|uc010iht.3,p.E273A|NM_001105677,p.E282A|uc010ihs.3,p.E282A|ENST00000503640,p.E273A|NM_006798,p.E273A|NM_001252275,p.E317A|ENST00000457664,p.E282A|ENST00000514019,p.E483A|uc011caq.2,p.E483A|uc010ihu.3,p.E317A	retained_intron, protein_coding, processed_transcript	uc021xox.1	nonsynonymous SNV	exon2	c.A845C	p.E282A	DFEFPRPYLPNFEFVGGLHCKPAKP	DFEFPRPYLPNFAFVGGLHCKPAKP	1.0	3.0	unscreened	-	4345_4:70465010-70465010 T>G_DFEFPRPYLPNFAFVGGLHCKPAKP
11:78567176-78567176 C>T	0.0	4345	COLON	-	-	-	-	TENM4	uc001ozl.4,p.E435K|ENST00000278550,p.E435K|NM_001098816,p.E435K	retained_intron, protein_coding, processed_transcript	uc001ozl.4	nonsynonymous SNV	exon11	c.G1303A	p.E435K	SFFPEDSFIDSGEIDVGRRASQKIP	SFFPEDSFIDSGKIDVGRRASQKIP	3.0	4.0	unscreened	-	4345_11:78567176-78567176 C>T_SFFPEDSFIDSGKIDVGRRASQKIP
7:148768038-148768038 A>G	0.0	4345	COLON	-	-	-	-	ZNF786	NM_152411,p.L609P|ENST00000491431,p.L609P|uc003wfi.2,p.L523P|uc011kuk.1,p.L572P|ENST00000316286,p.L523P|ENST00000451334,p.L572P|uc003wfh.2,p.L609P	protein_coding	uc011kuk.1	nonsynonymous SNV	exon5	c.T1715C	p.L572P	ECNRSFRLKGQLLSHQRLHTGERPF	ECNRSFRLKGQLPSHQRLHTGERPF	4.0	1.0	-	-	4345_7:148768038-148768038 A>G_ECNRSFRLKGQLPSHQRLHTGERPF
6:90305717-90305717 T>G	0.0	4345	COLON	-	-	-	-	ANKRD6	uc010kcd.3,p.L68R|NM_014942,p.L68R|uc011dzy.2,p.L68R|ENST00000520458,p.L68R|ENST00000485637,p.L68R|uc003pne.4,p.L68R|ENST00000520793,p.L68R|ENST00000447838,p.L68R|ENST00000369408,p.L68R|uc003pnf.4,p.L68R|NM_001242814,p.L68R|NM_001242811,p.L68R|uc003pni.4,p.L68R|NM_001242813,p.L68R|ENST00000522705,p.L68R|ENST00000523798,p.L68R|ENST00000522441,p.L68R|ENST00000465722,p.L68R|ENST00000339746,p.L68R|NM_001242809,p.L68R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011dzy.2	nonsynonymous SNV	exon3	c.T203G	p.L68R	PVVQILLKAGCDLDVQDDGDQTALH	PVVQILLKAGCDRDVQDDGDQTALH	5.0	4.0	-	-	4345_6:90305717-90305717 T>G_PVVQILLKAGCDRDVQDDGDQTALH
7:4841574-4841574 A>C	0.0	4345	COLON	-	-	-	-	RADIL	ENST00000399583,p.L851R|NM_018059,p.L851R|uc003snh.1,p.L147R|uc011jwc.1,p.L611R|uc003snj.1,p.L851R|uc003sni.1,p.L356R|ENST00000538469,p.L611R	retained_intron, protein_coding, nonsense_mediated_decay	uc011jwc.1	nonsynonymous SNV	exon11	c.T1832G	p.L611R	VLDGHLEAPSCPLAPRDPGPAAREV	VLDGHLEAPSCPRAPRDPGPAAREV	3.0	5.0	unscreened	-	4345_7:4841574-4841574 A>C_VLDGHLEAPSCPRAPRDPGPAAREV
5:33982344-33982344 T>G	0.0	4345	COLON	-	-	-	-	SLC45A2	uc003jif.4,p.T187P|NM_001297417,p.T187P|ENST00000509381,p.T187P|uc011coe.1,p.T187P	retained_intron, protein_coding	uc011coe.1	nonsynonymous SNV	exon2	c.A559C	p.T187P	DKEKGLHYHALFTDSQGNDIKVTAE	DKEKGLHYHALFPDSQGNDIKVTAE	4.0	5.0	unscreened	-	4345_5:33982344-33982344 T>G_DKEKGLHYHALFPDSQGNDIKVTAE
12:49949509-49949509 A>C	0.0	4345	COLON	-	-	-	-	KCNH3	uc010smj.1,p.E688A|uc001ruh.1,p.E748A|NM_012284,p.E748A|ENST00000257981,p.E748A	retained_intron, protein_coding, processed_transcript	uc010smj.1	nonsynonymous SNV	exon12	c.A2063C	p.E688A	EQGPTVSPAPADEPSSPLLSPGCTS	EQGPTVSPAPADAPSSPLLSPGCTS	3.0	4.0	unscreened	-	4345_12:49949509-49949509 A>C_EQGPTVSPAPADAPSSPLLSPGCTS
1:23420468-23420468 A>G	0.0	4345	COLON	-	-	-	-	LUZP1	ENST00000314174,p.L96P|uc010odv.1,p.L96P|ENST00000471849,p.L96P|NM_033631,p.L96P|uc001bgm.1,p.L96P|uc001bgl.3,p.L96P|uc001bgk.2,p.L96P|ENST00000418342,p.L96P|ENST00000374623,p.L96P|ENST00000302291,p.L96P|NM_001142546,p.L96P	protein_coding	uc010odv.1	nonsynonymous SNV	exon3	c.T287C	p.L96P	RAEDLCRLMKEKLEEEENLTRELKS	RAEDLCRLMKEKPEEEENLTRELKS	6.0	4.0	-	-	4345_1:23420468-23420468 A>G_RAEDLCRLMKEKPEEEENLTRELKS
19:17732648-17732648 A>G	0.0	4345	COLON	-	-	-	-	UNC13A	ENST00000519716,p.L1412S|ENST00000428389,p.L1500S|ENST00000551649,p.L1412S|uc031rjw.1,p.L1412S|NM_001080421,p.L1412S	retained_intron, protein_coding	uc031rjw.1	nonsynonymous SNV	exon37	c.T4235C	p.L1412S	MIGNLLRKHGKGLEKGRVKLPSHSD	MIGNLLRKHGKGSEKGRVKLPSHSD	3.0	3.0	unscreened	-	4345_19:17732648-17732648 A>G_MIGNLLRKHGKGSEKGRVKLPSHSD
9:94519727-94519727 T>C	0.0	4345	COLON	-	-	-	-	ROR2	uc004ark.3,p.K97R|uc004arj.2,p.K97R|ENST00000375708,p.K97R|NM_004560,p.K97R	retained_intron, protein_coding, processed_transcript	uc004ark.3	nonsynonymous SNV	exon3	c.A290G	p.K97R	VAGNPPPNVRWLKNDAPVVQEPRRI	VAGNPPPNVRWLRNDAPVVQEPRRI	4.0	3.0	-	-	4345_9:94519727-94519727 T>C_VAGNPPPNVRWLRNDAPVVQEPRRI
1:16580179-16580179 T>G	0.0	4345	COLON	-	-	-	-	FBXO42	uc001ayg.3,p.K272T|uc001ayf.3,p.K179T|ENST00000375592,p.K272T|NM_018994,p.K272T	protein_coding, processed_transcript	uc001ayg.3	nonsynonymous SNV	exon7	c.A815C	p.K272T	VWVLDLEQWAWSKPNISGPSPHPRG	VWVLDLEQWAWSTPNISGPSPHPRG	6.0	3.0	-	-	4345_1:16580179-16580179 T>G_VWVLDLEQWAWSTPNISGPSPHPRG
22:40161408-40161408 A>C	0.0	4345	COLON	-	-	-	-	ENTHD1	ENST00000325157,p.L347V|uc003ayg.3,p.L347V|NM_152512,p.L347V	protein_coding, processed_transcript	uc003ayg.3	nonsynonymous SNV	exon6	c.T1039G	p.L347V	CWSSKEEFISPDLRVSKSDSTFHNQ	CWSSKEEFISPDVRVSKSDSTFHNQ	2.0	2.0	unscreened	-	4345_22:40161408-40161408 A>C_CWSSKEEFISPDVRVSKSDSTFHNQ
22:42189882-42189882 T>A	0.0	4345	COLON	-	-	-	-	MEI1	ENST00000400107,p.L465H|NM_152513,p.L1132H|uc010gym.1,p.L465H|uc003bbb.1,p.L518H|ENST00000403492,p.L140H|ENST00000401548,p.L1132H|uc003baz.1,p.L1132H|uc003bbc.1,p.L500H|ENST00000300398,p.L140H|uc003bbd.1,p.L375H|uc003bbg.2,p.L146H	retained_intron, protein_coding, processed_transcript	uc010gym.1	nonsynonymous SNV	exon11	c.T1394A	p.L465H	LSQACVGCLEALLDYLDARSPDIAL	LSQACVGCLEALHDYLDARSPDIAL	4.0	2.0	-	-	4345_22:42189882-42189882 T>A_LSQACVGCLEALHDYLDARSPDIAL
22:42189882-42189882 T>A	0.0	4345	COLON	-	-	-	-	MEI1	uc011apf.1,p.L146H	retained_intron, protein_coding, processed_transcript	uc011apf.1	nonsynonymous SNV	exon4	c.T437A	p.L146H	LSQACVGCLEALLDYLDARSPDIGR	LSQACVGCLEALHDYLDARSPDIGR	4.0	2.0	-	-	4345_22:42189882-42189882 T>A_LSQACVGCLEALHDYLDARSPDIGR
20:52601929-52601929 G>A	0.0	4345	COLON	-	-	-	-	BCAS1	uc010zzb.1,p.S294L|ENST00000371440,p.S391L|uc010gil.1,p.S346L|uc002xws.2,p.S346L|uc010gim.2,p.S294L|NM_003657,p.S346L|ENST00000371435,p.S346L|ENST00000434986,p.S104L|uc010zza.1,p.S104L|ENST00000395961,p.S346L|uc002xwt.2,p.S346L|ENST00000448484,p.S253L	protein_coding	uc010zzb.1	nonsynonymous SNV	exon5	c.C881T	p.S294L	QGAGKNSKGCNPSGHTQSVTTPEPA	QGAGKNSKGCNPLGHTQSVTTPEPA	6.0	2.0	-	-	4345_20:52601929-52601929 G>A_QGAGKNSKGCNPLGHTQSVTTPEPA
6:36181724-36181724 A>C	0.0	4345	COLON	-	-	-	-	BRPF3	NM_015695,p.Q850H|uc003olv.4,p.Q850H|ENST00000357641,p.Q850H|ENST00000534400,p.Q850H	retained_intron, protein_coding, nonsense_mediated_decay	uc003olv.4	nonsynonymous SNV	exon8	c.A2550C	p.Q850H	LEPTGPAPSLSEQESPPEPPTLKPI	LEPTGPAPSLSEHESPPEPPTLKPI	9.0	3.0	-	-	4345_6:36181724-36181724 A>C_LEPTGPAPSLSEHESPPEPPTLKPI
20:42635265-42635265 C>G	0.0	4345	COLON	-	-	-	-	TOX2	uc010ggo.3,p.L82V|ENST00000341197,p.L82V|ENST00000423191,p.L40V|ENST00000442881,p.L40V|ENST00000358131,p.L91V|NM_032883,p.L40V|NM_001098798,p.L91V|NM_001098797,p.L82V|uc021wdz.2,p.L82V|NM_001098796,p.L40V|uc002xlf.4,p.L91V|uc002xle.4,p.L40V|uc010ggp.3,p.L40V|ENST00000372999,p.L40V	protein_coding	uc021wdz.2	nonsynonymous SNV	exon3	c.C244G	p.L82V	PPITPPNLPEPSLLHLGDHEASYHS	PPITPPNLPEPSVLHLGDHEASYHS	5.0	3.0	-	-	4345_20:42635265-42635265 C>G_PPITPPNLPEPSVLHLGDHEASYHS
5:13922316-13922316 T>C	1.0	4345	COLON	-	-	-	-	DNAH5	ENST00000265104,p.E187G|uc003jfd.2,p.E187G|NM_001369,p.E187G	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon5	c.A560G	p.E187G	ALRATSHGWGELEGLQDAANIRQEF	ALRATSHGWGELGGLQDAANIRQEF	5.0	3.0	unscreened	-	4345_5:13922316-13922316 T>C_ALRATSHGWGELGGLQDAANIRQEF
3:133099999-133099999 T>A	0.0	4345	COLON	-	-	-	-	TMEM108	uc003epi.3,p.S482T|NM_001136469,p.S482T|NM_023943,p.S482T|uc003eph.3,p.S482T|ENST00000321871,p.S482T|ENST00000393130,p.S482T	retained_intron, protein_coding, processed_transcript	uc003epi.3	nonsynonymous SNV	exon4	c.T1444A	p.S482T	AWVILAISVPISSCSVLLTVCCMKR	AWVILAISVPISTCSVLLTVCCMKR	3.0	1.0	unscreened	-	4345_3:133099999-133099999 T>A_AWVILAISVPISTCSVLLTVCCMKR
19:41930509-41930509 A>C	1.0	4345	COLON	-	-	-	-	BCKDHA	uc010xvz.2,p.K448T|uc002oqr.3,p.K444T|ENST00000457836,p.K448T|uc002oqm.4,p.K479T|NM_000709,p.K445T|uc002oqq.3,p.K445T|ENST00000540732,p.K479T|ENST00000595085,p.K479T|ENST00000269980,p.K445T|NM_001164783,p.K444T	retained_intron, protein_coding, processed_transcript	uc010xvz.2	nonsynonymous SNV	exon9	c.A1343C	p.K448T	TYGEHYPLDHFDK	TYGEHYPLDHFDT	9.0	4.0	-	-	4345_19:41930509-41930509 A>C_TYGEHYPLDHFDT
13:42876276-42876276 T>C	0.0	4345	COLON	-	-	-	-	AKAP11	uc001uys.2,p.F1132L|ENST00000025301,p.F1132L|NM_016248,p.F1132L	protein_coding	uc001uys.2	nonsynonymous SNV	exon8	c.T3394C	p.F1132L	LTKKLKGELAKEFAPATPPSTPHNS	LTKKLKGELAKELAPATPPSTPHNS	6.0	2.0	-	-	4345_13:42876276-42876276 T>C_LTKKLKGELAKELAPATPPSTPHNS
3:189612269-189612269 G>A	0.0	4345	COLON	-	-	-	1	TP63	uc003fry.2,p.R674H|NM_001114980,p.R580H|NM_003722,p.R674H|ENST00000382063,p.R589H|ENST00000354600,p.R580H|uc003fsc.2,p.R580H|ENST00000456148,p.R576H|ENST00000264731,p.R674H|ENST00000449992,p.R495H|ENST00000440651,p.R670H|uc010hzd.1,p.R495H	retained_intron, protein_coding	uc010hzd.1	nonsynonymous SNV	exon11	c.G1484A	p.R495H	NFDMDARRNKQQRIKEEGE	NFDMDARRNKQQHIKEEGE	2.0	1.0	unscreened	-	4345_3:189612269-189612269 G>A_NFDMDARRNKQQHIKEEGE
3:133099999-133099999 T>A	0.0	4345	COLON	-	-	-	-	TMEM108	uc003epj.1,p.S482T|ENST00000515826,p.S482T	retained_intron, protein_coding, processed_transcript	uc003epj.1	nonsynonymous SNV	exon3	c.T1444A	p.S482T	AWVILAISVPISSCSDPIT	AWVILAISVPISTCSDPIT	3.0	1.0	unscreened	-	4345_3:133099999-133099999 T>A_AWVILAISVPISTCSDPIT
6:123850435-123850435 A>C	0.0	4345	COLON	-	-	-	-	TRDN	ENST00000542443,p.V163G|uc010keo.2,p.V163G|NM_001256022,p.V163G	protein_coding	uc010keo.2	nonsynonymous SNV	exon6	c.T488G	p.V163G	QEKPERKIQTKEVGHSS	QEKPERKIQTKEGGHSS	1.0	3.0	unscreened	-	4345_6:123850435-123850435 A>C_QEKPERKIQTKEGGHSS
8:57358238-57358238 C>G	0.0	4345	COLON	-	-	-	-	PENK	uc010lym.3,p.W92S|ENST00000518770,p.W92S	retained_intron, protein_coding, processed_transcript	uc010lym.3	nonsynonymous SNV	exon3	c.G275C	p.W92S	FAPGRSRSGASPW	FAPGRSRSGASPS	3.0	2.0	unscreened	-	4345_8:57358238-57358238 C>G_FAPGRSRSGASPS
7:6656906-6656906 A>G	0.0	4345	COLON	-	-	-	-	ZNF853	uc011jwz.2,p.E33G|NM_017560,p.E33G|ENST00000457543,p.E33G	protein_coding	uc011jwz.2	nonsynonymous SNV	exon2	c.A98G	p.E33G	ATETFVLELQCLEDGGPGPDTLSGG	ATETFVLELQCLGDGGPGPDTLSGG	2.0	1.0	unscreened	-	4345_7:6656906-6656906 A>G_ATETFVLELQCLGDGGPGPDTLSGG
16:67271284-67271284 G>A	1.0	4346	COLORECTAL	-	-	-	-	FHOD1	ENST00000258201,p.T284M|uc002esl.3,p.T284M|uc010ced.3,p.T91M|NM_013241,p.T284M	retained_intron, protein_coding, nonsense_mediated_decay	uc010ced.3	nonsynonymous SNV	exon7	c.C272T	p.T91M	ELLVYTVTLINKTLAALPDQDSFYD	ELLVYTVTLINKMLAALPDQDSFYD	6.0	6.0	-	-	4346_16:67271284-67271284 G>A_ELLVYTVTLINKMLAALPDQDSFYD
19:58290417-58290417 G>A	1.0	4346	COLORECTAL	-	-	-	-	ZNF586	NM_001077426,p.S112N|uc002qqe.3,p.S112N|ENST00000396150,p.S112N	protein_coding	uc002qqe.3	nonsynonymous SNV	exon2	c.G335A	p.S112N	DFILGKRPMSAVSVENHFTKALHSC	DFILGKRPMSAVNVENHFTKALHSC	8.0	5.0	-	-	4346_19:58290417-58290417 G>A_DFILGKRPMSAVNVENHFTKALHSC
16:20839807-20839807 C>T	1.0	4346	COLORECTAL	-	-	-	-	LOC81691	ENST00000565340,p.A112V|ENST00000564274,p.A369V|uc002dhx.3,p.A369V|ENST00000348433,p.A369V|NM_001199053,p.A369V|uc002dhy.4,p.A369V|ENST00000261377,p.A369V|uc002dhv.3,p.A369V|NM_001144924,p.A369V|NM_030941,p.A369V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002dhy.4	nonsynonymous SNV	exon11	c.C1106T	p.A369V	CPDRLGHDATEDARTILELARYFLK	CPDRLGHDATEDVRTILELARYFLK	7.0	8.0	-	-	4346_16:20839807-20839807 C>T_CPDRLGHDATEDVRTILELARYFLK
7:100686303-100686303 C>T	1.0	4346	COLORECTAL	-	-	-	-	MUC17	ENST00000379439,p.T3869I|ENST00000306151,p.T3869I|NM_001040105,p.T3869I|uc003uxp.1,p.T3869I	retained_intron, protein_coding, nonsense_mediated_decay	uc003uxp.1	nonsynonymous SNV	exon3	c.C11606T	p.T3869I	IPAEVTTIRISITSERSTPLTTLLV	IPAEVTTIRISIISERSTPLTTLLV	8.0	10.0	-	-	4346_7:100686303-100686303 C>T_IPAEVTTIRISIISERSTPLTTLLV
6:91269813-91269813 C>T	1.0	4346	COLORECTAL	-	-	-	-	MAP3K7	uc003pob.2,p.R155K|NM_003188,p.R155K|uc003poa.2,p.R155K|ENST00000369325,p.R155K|ENST00000369332,p.R155K|NM_145331,p.R155K|NM_145333,p.R155K|NM_145332,p.R155K|uc003pnz.2,p.R155K|uc003poc.2,p.R155K|ENST00000369329,p.R155K|ENST00000369327,p.R155K	protein_coding, processed_transcript	uc003poc.2	nonsynonymous SNV	exon5	c.G464A	p.R155K	YLHSMQPKALIHRDLKPPNLLLVAG	YLHSMQPKALIHKDLKPPNLLLVAG	7.0	7.0	-	-	4346_6:91269813-91269813 C>T_YLHSMQPKALIHKDLKPPNLLLVAG
5:135392422-135392422 ->C	1.0	4346	COLORECTAL	-	-	-	-	TGFBI	ENST00000305126,p.V539fs|NM_000358,p.V539fs|uc003lbh.4,p.V365fs|uc003lbg.4,p.V272fs|ENST00000442011,p.V539fs|uc011cyb.2,p.V365fs|uc003lbf.4,p.V539fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cyb.2	frameshift insertion	exon8	c.1095dupC	p.V365fs	LTETLNREGVYTVFAPTNEAFRALP	LTETLNREGVYTVLCSHK	10.0	7.0	-	-	4346_5:135392422-135392422 ->C_LTETLNREGVYTVLCSHK
2:202134247-202134247 G>A	1.0	4346	COLORECTAL	-	-	-	1	CASP8	ENST00000264275,p.R107H|uc002uxp.1,p.R107H|NM_001228,p.R107H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002uxp.1	nonsynonymous SNV	exon4	c.G320A	p.R107H	RAQISAYRFHFCRMSWAEANSQCQT	RAQISAYRFHFCHMSWAEANSQCQT	10.0	7.0	-	-	4346_2:202134247-202134247 G>A_RAQISAYRFHFCHMSWAEANSQCQT
9:27060646-27060646 G>C	0.0	4346	COLORECTAL	-	-	-	-	IFT74	ENST00000380062,p.E561Q|ENST00000443698,p.E561Q|NM_025103,p.E561Q|NM_001099223,p.E561Q|uc010mja.3,p.E561Q|NM_001099222,p.E561Q|ENST00000433700,p.E561Q|uc003zqg.4,p.E561Q|uc010mjb.3,p.E561Q	retained_intron, protein_coding	uc010mjb.3	nonsynonymous SNV	exon19	c.G1681C	p.E561Q	WQHLEQNNFAMKEFIATKSQESDYQ	WQHLEQNNFAMKQFIATKSQESDYQ	7.0	4.0	-	-	4346_9:27060646-27060646 G>C_WQHLEQNNFAMKQFIATKSQESDYQ
17:73736533-73736535 GGA>-	1.0	4346	COLORECTAL	-	-	-	-	ITGB4	uc010dgo.3,p.847_848del|ENST00000450894,p.847_848del|NM_001005731,p.847_848del|NM_000213,p.847_848del|uc002jpg.3,p.847_848del|ENST00000579662,p.847_848del|ENST00000449880,p.847_848del|ENST00000339591,p.847_848del|NM_001005619,p.847_848del|uc002jpj.3,p.847_848del|ENST00000200181,p.847_848del|uc002jpi.4,p.847_848del|uc002jph.3,p.847_848del	retained_intron, protein_coding, processed_transcript	uc010dgo.3	nonframeshift deletion	exon21	c.2541_2543del	p.847_848del	PDTRECAQLRQEVEENLNEVYRQISG	PDTRECAQLRQEVENLNEVYRQISG	10.0	3.0	-	-	4346_17:73736533-73736535 GGA>-_PDTRECAQLRQEVENLNEVYRQISG
12:40653370-40653370 G>A	0.0	4346	COLORECTAL	-	-	-	-	LRRK2	uc001rmh.1,p.E125K|uc001rmg.4,p.E503K|ENST00000343742,p.E503K|ENST00000416796,p.E251K|ENST00000298910,p.E503K|NM_198578,p.E503K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rmh.1	nonsynonymous SNV	exon4	c.G373A	p.E125K	MKRHETSLPVQLEALRAILHFIVPG	MKRHETSLPVQLKALRAILHFIVPG	8.0	10.0	-	-	4346_12:40653370-40653370 G>A_MKRHETSLPVQLKALRAILHFIVPG
5:125930907-125930907 G>C	0.0	4346	COLORECTAL	-	-	-	-	ALDH7A1	uc011cxa.2,p.P22R|ENST00000447989,p.P22R|NM_001202404,p.P22R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011cxa.2	nonsynonymous SNV	exon1	c.C65G	p.P22R	LYFSSSQGLGLIPSPGLSMWRLPRA	LYFSSSQGLGLIRSPGLSMWRLPRA	9.0	3.0	-	-	4346_5:125930907-125930907 G>C_LYFSSSQGLGLIRSPGLSMWRLPRA
14:92537373-92537373 ->TGCTGCTGCTGCT	0.0	4346	COLORECTAL	-	-	-	-	ATXN3	ENST00000429774,p.Q292fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000429774	frameshift insertion	exon10	c.875_876insAGCAGCAGCAGCA	p.Q292fs	FHILKQQQKQQQQQQQQQQGDLSGQ	FHILKQQQKQQQQAAAAAAAAAAGGPIRTEFTSM	9.0	5.0	unscreened	-	4346_14:92537373-92537373 ->TGCTGCTGCTGCT_FHILKQQQKQQQQAAAAAAAAAAGGPIRTEFTSM
14:92537373-92537373 ->TGCTGCTGCTGCT	0.0	4346	COLORECTAL	-	-	-	-	ATXN3	ENST00000545170,p.Q308fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000545170	frameshift insertion	exon10	c.923_924insAGCAGCAGCAGCA	p.Q308fs	FECFRQQQKQQQQQQQQQQGDLSGQ	FECFRQQQKQQQQAAAAAAAAAAGGPIRTEFTSM	9.0	5.0	unscreened	-	4346_14:92537373-92537373 ->TGCTGCTGCTGCT_FECFRQQQKQQQQAAAAAAAAAAGGPIRTEFTSM
14:92537373-92537373 ->TGCTGCTGCTGCT	0.0	4346	COLORECTAL	-	-	-	-	ATXN3	uc001yad.4,p.Q244fs|uc021rzo.1,p.Q299fs|uc001yac.4,p.Q299fs|ENST00000502250,p.Q120fs|uc021rzp.1,p.Q201fs|ENST00000532032,p.Q299fs|ENST00000555381,p.Q229fs|uc021sal.1,p.Q201fs|uc021ryu.1,p.Q248fs|uc021ryx.1,p.Q229fs|uc010aug.3,p.Q284fs|uc021sao.1,p.Q233fs|NM_001164779,p.Q178fs|NM_001164781,p.Q229fs|NM_001127697,p.Q248fs|ENST00000556220,p.Q193fs|NM_004993,p.Q299fs|ENST00000503767,p.Q284fs|uc021rze.1,p.Q120fs|uc021san.1,p.Q247fs|uc010twl.2,p.Q120fs|uc021sag.1,p.Q193fs|uc021rzv.1,p.Q254fs|ENST00000340660,p.Q244fs|uc021sae.1,p.Q298fs|NM_001127696,p.Q284fs|ENST00000557311,p.Q120fs|uc021rys.1,p.Q201fs|uc021sar.1,p.Q141fs|ENST00000553491,p.Q248fs|uc021ryy.1,p.Q178fs|ENST00000554592,p.Q298fs|ENST00000393287,p.Q299fs|NM_001164780,p.Q120fs|ENST00000554672,p.Q201fs|NM_030660,p.Q244fs|uc001yae.4,p.Q201fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021sar.1	frameshift insertion	exon5	c.422_423insAGCAGCAGCAGCA	p.Q141fs	AYFEKQQQKQQQQQQQQQQGDLSGQ	AYFEKQQQKQQQQAAAAAAAAAAGGPIRTEFTSM	9.0	5.0	unscreened	-	4346_14:92537373-92537373 ->TGCTGCTGCTGCT_AYFEKQQQKQQQQAAAAAAAAAAGGPIRTEFTSM
7:150920903-150920903 G>A	1.0	4346	COLORECTAL	-	-	-	-	ABCF2	NM_007189,p.R195C|ENST00000468073,p.R195C|uc003wjp.3,p.R195C|ENST00000222388,p.R195C|ENST00000441774,p.R195C|uc003wjo.1,p.R195C|ENST00000287844,p.R195C|NM_005692,p.R195C	protein_coding, processed_transcript	uc003wjp.3	nonsynonymous SNV	exon5	c.C583T	p.R195C	DAECEKLMELYERLEELDADKAEMR	DAECEKLMELYECLEELDADKAEMR	8.0	10.0	-	-	4346_7:150920903-150920903 G>A_DAECEKLMELYECLEELDADKAEMR
3:49723322-49723327 GCGCTG>-	0.0	4346	COLORECTAL	-	rs71233013	ID=COSM1724580;OCCURENCE=1(NS)	-	MST1	uc011bcs.1,p.444_446del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bcs.1	nonframeshift deletion	exon9	c.1332_1337del	p.444_446del	AARSARPARVSSASAGPLRRRTSRSS	AARSARPARVSSAGPLRRRTSRSSR	8.0	2.0	unscreened	-	4346_3:49723322-49723327 GCGCTG>-_AARSARPARVSSAGPLRRRTSRSSR
2:136872909-136872909 C>T	1.0	4346	COLORECTAL	-	-	-	1	CXCR4	uc002tuy.3,p.V201I|uc010fnk.3,p.V182I|ENST00000409817,p.V201I|ENST00000241393,p.V197I|uc002tuz.3,p.V197I|NM_003467,p.V197I|NM_001008540,p.V201I	protein_coding, processed_transcript	uc010fnk.3	nonsynonymous SNV	exon2	c.G544A	p.V182I	ICDRFYPNDLWVVVFQFQHIMVGLI	ICDRFYPNDLWVIVFQFQHIMVGLI	8.0	8.0	-	-	4346_2:136872909-136872909 C>T_ICDRFYPNDLWVIVFQFQHIMVGLI
17:40266600-40266600 C>T	1.0	4346	COLORECTAL	-	-	ID=COSM1383303;OCCURENCE=1(large_intestine)	-	KAT2A	NM_021078,p.R681H|uc002hyx.2,p.R681H|ENST00000225916,p.R681H	retained_intron, protein_coding, nonsense_mediated_decay	uc002hyx.2	nonsynonymous SNV	exon14	c.G2042A	p.R681H	KKQKEIIKKLIERKQAQIRKVYPGL	KKQKEIIKKLIEHKQAQIRKVYPGL	7.0	8.0	-	-	4346_17:40266600-40266600 C>T_KKQKEIIKKLIEHKQAQIRKVYPGL
6:31599710-31599710 ->A	0.0	4346	COLORECTAL	-	-	-	-	PRRC2A	ENST00000376007,p.T1087fs|NM_004638,p.T1087fs|ENST00000376033,p.T1087fs|uc003nvc.4,p.T1087fs|uc003nvb.4,p.T1087fs|NM_080686,p.T1087fs	retained_intron, protein_coding, processed_transcript	uc003nvc.4	frameshift insertion	exon16	c.3261dupA	p.T1087fs	HPPAPRGRTASETRSEGSEYEEIPK	HPPAPRGRTASETTERGFRV	9.0	4.0	-	-	4346_6:31599710-31599710 ->A_HPPAPRGRTASETTERGFRV
17:7578406-7578406 C>T	1.0	4346	COLORECTAL	-	-	ID=COSM3355994,COSM1640851,COSM99024,COSM99023,COSM10648,COSM99914,COSM99022;OCCURENCE=4(skin),97(breast),9(biliary_tract),321(large_intestine),4(prostate),4(kidney),9(liver),22(pancreas),28(urinary_tract),1(adrenal_gland),65(ovary),1(soft_tissue),9(endometrium),2(salivary_gland),1(penis),18(lung),2(thyroid),35(haematopoietic_and_lymphoid_tissue),4(cervix),62(stomach),70(central_nervous_system),80(oesophagus),2(vulva),3(bone),51(upper_aerodigestive_tract)	1	TP53	ENST00000455263,p.R175H|NM_001276761,p.R136H|uc002gij.3,p.R136H|ENST00000514944,p.R82H|ENST00000420246,p.R175H|NM_000546,p.R175H|uc002gih.3,p.R175H|uc002gig.1,p.R175H|NM_001276698,p.R16H|NM_001126118,p.R136H|NM_001126116,p.R43H|NM_001276699,p.R16H|uc010vug.3,p.R136H|NM_001276695,p.R136H|ENST00000359597,p.R175H|NM_001276696,p.R136H|uc031qyq.1,p.R136H|uc010cng.2,p.R16H|ENST00000445888,p.R175H|uc010cnf.2,p.R16H|ENST00000269305,p.R175H|uc002gii.2,p.R16H|NM_001126112,p.R175H|NM_001126117,p.R43H|NM_001276697,p.R16H|ENST00000509690,p.R43H|NM_001126113,p.R175H|NM_001126115,p.R43H|NM_001276760,p.R136H|NM_001126114,p.R175H|ENST00000413465,p.R175H|uc002gio.3,p.R43H|uc002gin.3,p.R82H	retained_intron, protein_coding, processed_transcript	uc031qyq.1	nonsynonymous SNV	exon4	c.G407A	p.R136H	YKQSQHMTEVVRRCPHHERCSDSDG	YKQSQHMTEVVRHCPHHERCSDSDG	9.0	10.0	-	-	4346_17:7578406-7578406 C>T_YKQSQHMTEVVRHCPHHERCSDSDG
16:5140130-5140130 C>T	0.0	4346	COLORECTAL	-	-	-	-	FAM86A	ENST00000427587,p.V233I|ENST00000587133,p.V172I|NM_201400,p.V233I|uc002cyo.2,p.V233I|NM_001289029,p.V172I|ENST00000458008,p.V199I|NM_201598,p.V199I|uc002cyp.2,p.V199I	retained_intron, protein_coding, nonsense_mediated_decay	uc002cyp.2	nonsynonymous SNV	exon5	c.G595A	p.V199I	VTVAQLDWDVATVHQLSAFQPDVVI	VTVAQLDWDVATIHQLSAFQPDVVI	9.0	2.0	unscreened	-	4346_16:5140130-5140130 C>T_VTVAQLDWDVATIHQLSAFQPDVVI
16:223483-223483 T>C	0.0	4346	COLORECTAL	-	-	-	-	HBA2	ENST00000397806,p.C73R|ENST00000251595,p.C105R|NM_000517,p.C105R|uc002cfv.4,p.C105R	retained_intron, protein_coding	uc002cfv.4	nonsynonymous SNV	exon3	c.T313C	p.C105R	RVDPVNFKLLSHCLLVTLAAHLPAE	RVDPVNFKLLSHRLLVTLAAHLPAE	10.0	5.0	-	-	4346_16:223483-223483 T>C_RVDPVNFKLLSHRLLVTLAAHLPAE
13:32977299-32977299 C>T	1.0	4346	COLORECTAL	-	-	-	-	N4BP2L1	NM_001286461,p.R171Q	protein_coding, processed_transcript	NM_001286461	nonsynonymous SNV	exon5	c.G512A	p.R171Q	RNIHGVSREKIHRMKERLESDLM	RNIHGVSREKIHQMKERLESDLM	7.0	2.0	-	-	4346_13:32977299-32977299 C>T_RNIHGVSREKIHQMKERLESDLM
17:45219311-45219311 T>C	0.0	4346	COLORECTAL	-	-	-	-	CDC27	uc002ild.4,p.I487V|ENST00000446365,p.I426V|NM_001293089,p.I486V|uc010wkp.2,p.I426V|uc002ilf.4,p.I486V|uc002ile.4,p.I493V|ENST00000066544,p.I487V|NM_001293091,p.I426V|ENST00000527547,p.I486V|NM_001114091,p.I493V|NM_001256,p.I487V|ENST00000531206,p.I493V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010wkp.2	nonsynonymous SNV	exon11	c.A1276G	p.I426V	ALCSYNCKEAINILSHLPSHHYNTG	ALCSYNCKEAINVLSHLPSHHYNTG	8.0	3.0	-	-	4346_17:45219311-45219311 T>C_ALCSYNCKEAINVLSHLPSHHYNTG
3:49723322-49723327 GCGCTG>-	0.0	4346	COLORECTAL	-	rs71233013	ID=COSM1724580;OCCURENCE=1(NS)	-	MST1	uc003cxg.3,p.406_407del|ENST00000449682,p.406_407del|NM_020998,p.406_407del	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003cxg.3	nonframeshift deletion	exon10	c.1216_1221del	p.406_407del	GTVSKTRKGVQCQRWSAETPHKPQFT	GTVSKTRKGVQCWSAETPHKPQFTF	8.0	2.0	unscreened	-	4346_3:49723322-49723327 GCGCTG>-_GTVSKTRKGVQCWSAETPHKPQFTF
3:195514825-195514825 G>A	1.0	4346	COLORECTAL	-	-	-	2	MUC4	ENST00000477756,p.A1209V|ENST00000470451,p.A1209V|ENST00000478156,p.A1209V|ENST00000477086,p.A1209V|ENST00000463781,p.A1209V|ENST00000475231,p.A1209V|ENST00000479406,p.A1209V|ENST00000480843,p.A1209V|NM_018406,p.A1209V|ENST00000462323,p.A1209V|uc021xjp.1,p.A1209V|ENST00000466475,p.A1209V	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xjp.1	nonsynonymous SNV	exon2	c.C3626T	p.A1209V	HATPLLVTDTSSASTGHATPLPVTD	HATPLLVTDTSSVSTGHATPLPVTD	8.0	10.0	-	-	4346_3:195514825-195514825 G>A_HATPLLVTDTSSVSTGHATPLPVTD
14:92537373-92537373 ->TGCTGCTGCTGCT	0.0	4346	COLORECTAL	-	-	-	-	ATXN3	uc021sai.1,p.S183fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021sai.1	frameshift insertion	exon8	c.547_548insAGCAGCAGCAGCA	p.S183fs	TQTSDSSKSSNSSSSSSSRGTYQDR	TQTSDSSKSSNSKQQQQQQQQQQGDLSGQSSHPCERPATSSGALGSDL	9.0	5.0	unscreened	-	4346_14:92537373-92537373 ->TGCTGCTGCTGCT_TQTSDSSKSSNSKQQQQQQQQQQGDLSGQSSHPCERPATSSGALGSDL
13:32977299-32977299 C>T	1.0	4346	COLORECTAL	-	-	-	-	N4BP2L1	NM_001286459,p.R171Q|ENST00000380130,p.R171Q|NM_052818,p.R171Q|ENST00000530622,p.R65Q|uc001uuc.3,p.R171Q|ENST00000380133,p.R171Q	protein_coding, processed_transcript	uc001uuc.3	nonsynonymous SNV	exon5	c.G512A	p.R171Q	RNIHGVSREKIHRMKERYEHDVTFH	RNIHGVSREKIHQMKERYEHDVTFH	7.0	2.0	-	-	4346_13:32977299-32977299 C>T_RNIHGVSREKIHQMKERYEHDVTFH
12:19436497-19436497 C>T	1.0	4346	COLORECTAL	-	-	-	-	PLEKHA5	ENST00000317589,p.P527S|uc010sih.1,p.P419S|NM_001143821,p.P527S|ENST00000429027,p.P533S|ENST00000424268,p.P419S|uc001reb.3,p.P527S|NM_001256470,p.P533S|ENST00000309364,p.P527S|NM_019012,p.P527S|ENST00000538714,p.P527S|uc001rea.3,p.P527S|ENST00000359180,p.P527S|uc009zin.3,p.P285S|NM_001256787,p.P419S|ENST00000299275,p.P527S|uc010sie.2,p.P533S|ENST00000539256,p.P285S|ENST00000355397,p.P527S|ENST00000543806,p.P419S|uc001rec.1,p.P215S|uc010sig.2,p.P419S|ENST00000536974,p.P419S|uc031qgo.1,p.P533S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc031qgo.1	nonsynonymous SNV	exon12	c.C1597T	p.P533S	QSTLPRHSTLSSPKTMVNISDQTMH	QSTLPRHSTLSSSKTMVNISDQTMH	9.0	7.0	-	-	4346_12:19436497-19436497 C>T_QSTLPRHSTLSSSKTMVNISDQTMH
5:76332468-76332468 G>T	0.0	4346	COLORECTAL	-	-	-	-	AGGF1	ENST00000312916,p.V202L|uc003ket.3,p.V202L|NM_018046,p.V202L	protein_coding, processed_transcript, nonsense_mediated_decay	uc003ket.3	nonsynonymous SNV	exon4	c.G604T	p.V202L	LAESLRAAAEAAVSQTGFSYDENTG	LAESLRAAAEAALSQTGFSYDENTG	7.0	2.0	unscreened	-	4346_5:76332468-76332468 G>T_LAESLRAAAEAALSQTGFSYDENTG
6:147685193-147685193 G>A	0.0	4346	COLORECTAL	-	-	-	-	STXBP5	uc003qly.3,p.R646Q|ENST00000367480,p.R938Q|ENST00000321680,p.R991Q|uc010khz.2,p.R955Q|ENST00000179882,p.R646Q|NM_139244,p.R955Q|uc003qlz.3,p.R991Q|NM_001127715,p.R991Q|ENST00000367481,p.R955Q	protein_coding	uc010khz.2	nonsynonymous SNV	exon23	c.G2864A	p.R955Q	LLDVYYLPLTNMRIARTFCFTNNGQ	LLDVYYLPLTNMQIARTFCFTNNGQ	7.0	9.0	-	-	4346_6:147685193-147685193 G>A_LLDVYYLPLTNMQIARTFCFTNNGQ
16:5140136-5140136 C>T	0.0	4346	COLORECTAL	-	rs74684799	-	-	FAM86A	NM_201598,p.A197T|NM_001289029,p.A170T|ENST00000427587,p.A231T|ENST00000458008,p.A197T|uc002cyp.2,p.A197T|NM_201400,p.A231T|uc002cyo.2,p.A231T|ENST00000587133,p.A170T	retained_intron, protein_coding, nonsense_mediated_decay	uc002cyp.2	nonsynonymous SNV	exon5	c.G589A	p.A197T	PRVTVAQLDWDVATVHQLSAFQPDV	PRVTVAQLDWDVTTVHQLSAFQPDV	9.0	1.0	unscreened	-	4346_16:5140136-5140136 C>T_PRVTVAQLDWDVTTVHQLSAFQPDV
12:8925971-8925971 A>G	0.0	4346	COLORECTAL	-	-	-	-	RIMKLB	NM_020734,p.Q251R|NM_001297776,p.Q251R|ENST00000538135,p.Q251R|ENST00000357529,p.Q251R|uc001qux.2,p.Q251R|uc001quw.2,p.Q251R|ENST00000544257,p.Q251R|uc010sgl.1,p.Q251R|ENST00000535829,p.Q251R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010sgl.1	nonsynonymous SNV	exon6	c.A752G	p.Q251R	CSLSEQGKQLAIQVSNILGMDVCGI	CSLSEQGKQLAIRVSNILGMDVCGI	6.0	8.0	-	-	4346_12:8925971-8925971 A>G_CSLSEQGKQLAIRVSNILGMDVCGI
3:53856534-53856534 T>C	1.0	4346	COLORECTAL	-	-	-	-	CHDH	NM_018397,p.N280S|ENST00000315251,p.N280S|uc003dgz.3,p.N280S	protein_coding	uc003dgz.3	nonsynonymous SNV	exon4	c.A839G	p.N280S	EGTRAVGVEYVKNGQSHRAYASKEV	EGTRAVGVEYVKSGQSHRAYASKEV	6.0	8.0	CD8	-	4346_3:53856534-53856534 T>C_EGTRAVGVEYVKSGQSHRAYASKEV
6:143074653-143074653 G>A	1.0	4346	COLORECTAL	-	-	ID=COSM1073992;OCCURENCE=1(endometrium)	-	HIVEP2	ENST00000012134,p.S2311L|NM_006734,p.S2311L|uc003qjd.3,p.S2311L|ENST00000367604,p.S2311L|ENST00000367603,p.S2311L	protein_coding, processed_transcript	uc003qjd.3	nonsynonymous SNV	exon10	c.C6932T	p.S2311L	PSSPRLLMKQSTSEDSLNATEREQE	PSSPRLLMKQSTLEDSLNATEREQE	4.0	4.0	-	-	4346_6:143074653-143074653 G>A_PSSPRLLMKQSTLEDSLNATEREQE
2:79348754-79348754 G>A	0.0	4346	COLORECTAL	-	-	ID=COSM196880;OCCURENCE=1(large_intestine)	-	REG1A	uc010ffx.1,p.R44H|uc010ysd.2,p.R44H|uc002snz.3,p.R44H|NM_002909,p.R44H|ENST00000233735,p.R44H	retained_intron, protein_coding	uc010ysd.2	nonsynonymous SNV	exon2	c.G131A	p.R44H	ARISCPEGTNAYRSYCYYFNEDRET	ARISCPEGTNAYHSYCYYFNEDRET	8.0	1.0	-	-	4346_2:79348754-79348754 G>A_ARISCPEGTNAYHSYCYYFNEDRET
11:134018512-134018512 G>T	0.0	4346	COLORECTAL	-	-	-	-	JAM3	NM_032801,p.L261F|uc009zcz.2,p.L210F|uc001qhb.3,p.L261F|ENST00000529443,p.L306F|ENST00000441717,p.L210F|ENST00000299106,p.L261F|NM_001205329,p.L210F	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zcz.2	nonsynonymous SNV	exon6	c.G630T	p.L210F	VLVVLAVLALITLGICCAYRRGYFI	VLVVLAVLALITFGICCAYRRGYFI	8.0	9.0	-	-	4346_11:134018512-134018512 G>T_VLVVLAVLALITFGICCAYRRGYFI
12:2017118-2017118 G>C	0.0	4346	COLORECTAL	-	-	-	-	CACNA2D4	uc009zdt.1,p.S191C|ENST00000585708,p.S127C|ENST00000587995,p.S191C|uc021qsx.1,p.S191C|ENST00000585732,p.S191C|ENST00000586184,p.S191C|ENST00000382722,p.S191C|ENST00000444595,p.S191C|NM_172364,p.S191C|ENST00000588077,p.S127C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021qsx.1	nonsynonymous SNV	exon5	c.C572G	p.S191C	NFVELGAEFLLESNAHFSNLPVNTS	NFVELGAEFLLECNAHFSNLPVNTS	9.0	9.0	-	-	4346_12:2017118-2017118 G>C_NFVELGAEFLLECNAHFSNLPVNTS
3:195047682-195047682 G>C	1.0	4346	COLORECTAL	-	-	-	-	ACAP2	ENST00000326793,p.R226G|NM_012287,p.R226G|uc003fun.4,p.R226G	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003fun.4	nonsynonymous SNV	exon9	c.C676G	p.R226G	GPYMKDLGAQLDRLVVDAAKEKREM	GPYMKDLGAQLDGLVVDAAKEKREM	9.0	8.0	-	-	4346_3:195047682-195047682 G>C_GPYMKDLGAQLDGLVVDAAKEKREM
19:58385707-58385707 ->T	1.0	4346	COLORECTAL	-	-	-	-	ZNF814	uc002qqo.2,p.H351fs|ENST00000435989,p.H351fs|NM_001144989,p.H351fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002qqo.2	frameshift insertion	exon3	c.1050dupA	p.H351fs	FSNHQRVHTEKKHYECGECGKSFSK	FSNHQRVHTEKKTL	6.0	7.0	-	-	4346_19:58385707-58385707 ->T_FSNHQRVHTEKKTL
17:73736533-73736535 GGA>-	1.0	4346	COLORECTAL	-	-	-	-	ITGB4	uc010dgp.1,p.847_848del	retained_intron, protein_coding, processed_transcript	uc010dgp.1	nonframeshift deletion	exon20	c.2541_2543del	p.847_848del	PDTRECAQLRQEVEENVRTQELGLAG	PDTRECAQLRQEVENVRTQELGLAG	10.0	3.0	-	-	4346_17:73736533-73736535 GGA>-_PDTRECAQLRQEVENVRTQELGLAG
5:149500816-149500816 C>T	0.0	4346	COLORECTAL	-	-	-	1	PDGFRB	ENST00000261799,p.G805D|uc010jhd.3,p.G644D|NM_002609,p.G805D|uc003lro.3,p.G805D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010jhd.3	nonsynonymous SNV	exon17	c.G1931A	p.G644D	NESPVLSYMDLVGFSYQVANGMEFL	NESPVLSYMDLVDFSYQVANGMEFL	7.0	10.0	-	-	4346_5:149500816-149500816 C>T_NESPVLSYMDLVDFSYQVANGMEFL
9:32633024-32633024 ->T	0.0	4346	COLORECTAL	-	-	-	-	TAF1L	uc003zrg.1,p.A852fs|ENST00000242310,p.A852fs|NM_153809,p.A852fs	protein_coding	uc003zrg.1	frameshift insertion	exon1	c.2553dupA	p.A852fs	RPRRIRMEDIKKAFPSHSESSIRKR	RPRRIRMEDIKKSLSFPFRKQHPEEAKALR	2.0	5.0	-	-	4346_9:32633024-32633024 ->T_RPRRIRMEDIKKSLSFPFRKQHPEEAKALR
1:228503749-228503749 G>A	0.0	4346	COLORECTAL	-	-	-	-	OBSCN	ENST00000366707,p.R2039Q|ENST00000570156,p.R5362Q|uc009xez.2,p.R4405Q|uc001hsn.4,p.R4405Q|NM_001271223,p.R5362Q|ENST00000284548,p.R4405Q|ENST00000422127,p.R4405Q|uc001hsq.2,p.R5362Q|NM_052843,p.R4405Q|ENST00000366709,p.R1524Q|NM_001098623,p.R4405Q	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon50	c.G13214A	p.R4405Q	NGLRHLLLLKNLRPQDSCRVTFLAG	NGLRHLLLLKNLQPQDSCRVTFLAG	5.0	10.0	-	-	4346_1:228503749-228503749 G>A_NGLRHLLLLKNLQPQDSCRVTFLAG
7:117431919-117431919 C>T	1.0	4346	COLORECTAL	-	-	ID=COSM1548059;OCCURENCE=1(lung)	-	CTTNBP2	ENST00000160373,p.R444Q|NM_033427,p.R444Q|uc003vjf.3,p.R444Q|ENST00000441556,p.R444Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003vjf.3	nonsynonymous SNV	exon4	c.G1331A	p.R444Q	CANTSLHPGLNPRIQAARFRFQGNA	CANTSLHPGLNPQIQAARFRFQGNA	5.0	9.0	-	-	4346_7:117431919-117431919 C>T_CANTSLHPGLNPQIQAARFRFQGNA
10:83635617-83635617 C>T	0.0	4346	COLORECTAL	-	-	-	-	NRG3	uc021pvc.1,p.P174L|ENST00000372141,p.P174L|NM_001165972,p.P174L|NM_001010848,p.P174L|uc001kco.2,p.P174L|ENST00000404547,p.P174L|uc010qlz.1,p.P174L	protein_coding, nonsense_mediated_decay	uc021pvc.1	nonsynonymous SNV	exon1	c.C521T	p.P174L	TRAPTRFPGHRVPIRASPRSTTARN	TRAPTRFPGHRVLIRASPRSTTARN	2.0	5.0	-	-	4346_10:83635617-83635617 C>T_TRAPTRFPGHRVLIRASPRSTTARN
11:83984264-83984264 T>C	0.0	4346	COLORECTAL	-	-	-	-	DLG2	uc010rsy.1,p.Y12C|ENST00000531015,p.Y12C|ENST00000529401,p.Y12C|NM_001142700,p.Y12C|ENST00000418306,p.Y12C|uc001pai.2,p.Y12C|uc010rtb.1,p.Y12C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010rtb.1	nonsynonymous SNV	exon1	c.A35G	p.Y12C	MQRPSVSRAENYQLLWDTIASLKQ	MQRPSVSRAENCQLLWDTIASLKQ	3.0	9.0	-	-	4346_11:83984264-83984264 T>C_MQRPSVSRAENCQLLWDTIASLKQ
3:150690404-150690404 G>A	0.0	4346	COLORECTAL	-	-	-	-	CLRN1	uc031sbx.1,p.P31L|uc021xfv.1,p.P31L|NM_001256819,p.P31L|ENST00000327047,p.P31L|uc021xfs.1,p.P31L|uc003eyk.1,p.P31L|NM_174878,p.P31L|ENST00000328863,p.P31L|NM_001195794,p.P31L	retained_intron, protein_coding	uc031sbx.1	nonsynonymous SNV	exon1	c.C92T	p.P31L	ACALGVVTALGTPLWIKATVLCKTG	ACALGVVTALGTLLWIKATVLCKTG	1.0	10.0	-	-	4346_3:150690404-150690404 G>A_ACALGVVTALGTLLWIKATVLCKTG
12:40717084-40717084 G>C	0.0	4346	COLORECTAL	-	-	-	-	LRRK2	uc001rmg.4,p.E1878Q|NM_198578,p.E1878Q|uc001rmi.3,p.E711Q|ENST00000298910,p.E1878Q|uc009zjw.3,p.E716Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc009zjw.3	nonsynonymous SNV	exon17	c.G2146C	p.E716Q	RNIMLNNDELEFEQAPEFLLGDGSF	RNIMLNNDELEFQQAPEFLLGDGSF	8.0	10.0	-	-	4346_12:40717084-40717084 G>C_RNIMLNNDELEFQQAPEFLLGDGSF
11:111941931-111941931 ->T	1.0	4346	COLORECTAL	-	-	-	-	PIH1D2	ENST00000525744,p.N91fs|ENST00000431456,p.N126fs|ENST00000532211,p.N126fs|ENST00000530641,p.N126fs|uc009yyl.3,p.N126fs|ENST00000280350,p.N126fs|ENST00000528775,p.N126fs|NM_138789,p.N126fs|uc010rws.1,p.N126fs|uc001pmp.4,p.N126fs|NM_001082619,p.N126fs	protein_coding, processed_transcript, non_stop_decay	uc010rws.1	frameshift insertion	exon4	c.377dupA	p.N126fs	VLHAAEKDQVKKNQLIQMAMKCIEE	VLHAAEKDQVKKKSVNSDGHEMH	4.0	5.0	-	-	4346_11:111941931-111941931 ->T_VLHAAEKDQVKKKSVNSDGHEMH
1:156779091-156779091 G>T	0.0	4346	COLORECTAL	-	-	-	-	SH2D2A	uc001fqd.2,p.S302R|ENST00000368199,p.S302R|ENST00000392306,p.S312R|uc001fqe.2,p.S284R|uc001fqc.1,p.S274R|ENST00000368198,p.S284R|NM_001161441,p.S312R|NM_001161442,p.S284R|NM_001161443,p.S274R|NM_003975,p.S302R|uc009wsh.2,p.S312R|NM_001161444,p.S302R|uc010phs.1,p.S302R	protein_coding, processed_transcript	uc010phs.1	nonsynonymous SNV	exon7	c.C906A	p.S302R	YAMGRGSPGEAPSNIYVEVEDEGLP	YAMGRGSPGEAPRNIYVEVEDEGLP	3.0	5.0	-	-	4346_1:156779091-156779091 G>T_YAMGRGSPGEAPRNIYVEVEDEGLP
1:38018317-38018317 C>A	1.0	4346	COLORECTAL	-	-	-	-	SNIP1	NM_024700,p.G86W|uc001cbi.4,p.G86W|ENST00000296215,p.G86W	protein_coding, processed_transcript	uc001cbi.4	nonsynonymous SNV	exon2	c.G256T	p.G86W	SRSPPKKKNKASGRRSKSPRSKRNR	SRSPPKKKNKASWRRSKSPRSKRNR	6.0	7.0	-	-	4346_1:38018317-38018317 C>A_SRSPPKKKNKASWRRSKSPRSKRNR
1:76877984-76877984 G>A	0.0	4346	COLORECTAL	0.0005	-	ID=COSM912201;OCCURENCE=1(endometrium)	-	ST6GALNAC3	ENST00000328299,p.V169I|uc010orh.1,p.V104I|uc001dhh.2,p.V169I|NM_001160011,p.V169I|uc001dhg.4,p.V169I|NM_152996,p.V169I	protein_coding, processed_transcript	uc010orh.1	nonsynonymous SNV	exon2	c.G310A	p.V104I	PFRNMRKDGNGIVYNMLKKTVGIYP	PFRNMRKDGNGIIYNMLKKTVGIYP	3.0	10.0	-	-	4346_1:76877984-76877984 G>A_PFRNMRKDGNGIIYNMLKKTVGIYP
1:92161261-92161261 G>A	0.0	4346	COLORECTAL	-	-	-	-	TGFBR3	ENST00000465892,p.T801M|NM_001195683,p.T801M|uc001doi.3,p.T801M|NM_001195684,p.T801M|uc010osy.2,p.T760M|NM_003243,p.T802M|ENST00000212355,p.T802M|uc001doj.3,p.T801M|uc009wde.3,p.T497M|uc001doh.3,p.T802M|ENST00000370399,p.T801M|ENST00000525962,p.T802M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010osy.2	nonsynonymous SNV	exon17	c.C2279T	p.T760M	IAFAAFVIGALLTGALWYIYSHTGE	IAFAAFVIGALLMGALWYIYSHTGE	8.0	3.0	-	-	4346_1:92161261-92161261 G>A_IAFAAFVIGALLMGALWYIYSHTGE
9:22006042-22006042 C>T	1.0	4346	COLORECTAL	-	-	-	-	CDKN2B	ENST00000276925,p.E121K|NM_004936,p.E121K|uc003zpo.3,p.E121K	retained_intron, protein_coding	uc003zpo.3	nonsynonymous SNV	exon2	c.G361A	p.E121K	RDAWGRLPVDLAEERGHRDVAGYLR	RDAWGRLPVDLAKERGHRDVAGYLR	4.0	10.0	-	-	4346_9:22006042-22006042 C>T_RDAWGRLPVDLAKERGHRDVAGYLR
9:97063082-97063082 G>T	0.0	4346	COLORECTAL	-	-	-	-	ZNF169	uc004aum.1,p.K414N|uc022bki.1,p.K415N|NM_001301275,p.K223N|ENST00000395395,p.K414N|NM_003448,p.K415N|NM_194320,p.K414N	protein_coding, processed_transcript	uc022bki.1	nonsynonymous SNV	exon4	c.G1245T	p.K415N	YVCAECGHSFRQKVTLIRHQRTHTG	YVCAECGHSFRQNVTLIRHQRTHTG	6.0	2.0	-	-	4346_9:97063082-97063082 G>T_YVCAECGHSFRQNVTLIRHQRTHTG
3:98073226-98073226 T>G	0.0	4346	COLORECTAL	-	-	-	-	OR5K4	uc011bgv.2,p.F177V|ENST00000354924,p.F177V|NM_001005517,p.F177V	protein_coding	uc011bgv.2	nonsynonymous SNV	exon1	c.T529G	p.F177V	RLTFCRSNKIHHFFCDILPLYRLSC	RLTFCRSNKIHHVFCDILPLYRLSC	1.0	4.0	-	-	4346_3:98073226-98073226 T>G_RLTFCRSNKIHHVFCDILPLYRLSC
X:32827726-32827726 G>T	0.0	4346	COLORECTAL	-	-	-	-	DMD	NM_004010,p.P55Q|ENST00000288447,p.P170Q|uc004dcy.1,p.P174Q|ENST00000378677,p.P174Q|uc004ddb.1,p.P170Q|uc004dcz.2,p.P55Q|uc004ddf.3,p.P170Q|NM_000109,p.P170Q|uc004dda.1,p.P178Q|ENST00000357033,p.P178Q|NM_004009,p.P174Q|NM_004006,p.P178Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc004ddf.3	nonsynonymous SNV	exon7	c.C509A	p.P170Q	GLALNALIHSHRPDLFDWNSVVCQQ	GLALNALIHSHRQDLFDWNSVVCQQ	9.0	1.0	-	-	4346_X:32827726-32827726 G>T_GLALNALIHSHRQDLFDWNSVVCQQ
4:156784892-156784892 T>A	0.0	4346	COLORECTAL	-	-	-	-	ASIC5	NM_017419,p.I19L|ENST00000537611,p.I19L|uc003ipe.1,p.I19L	protein_coding	uc003ipe.1	nonsynonymous SNV	exon2	c.A55T	p.I19L	SKVYAENGLLEKIKLCLSKKPLPSP	SKVYAENGLLEKLKLCLSKKPLPSP	1.0	7.0	-	-	4346_4:156784892-156784892 T>A_SKVYAENGLLEKLKLCLSKKPLPSP
10:106907472-106907472 G>A	0.0	4346	COLORECTAL	-	-	-	-	SORCS3	ENST00000369701,p.R467H|NM_014978,p.R467H|uc001kyi.1,p.R467H	protein_coding	uc001kyi.1	nonsynonymous SNV	exon9	c.G1400A	p.R467H	QNDTYNLYISDTRGIYFTLAMENIK	QNDTYNLYISDTHGIYFTLAMENIK	1.0	5.0	-	-	4346_10:106907472-106907472 G>A_QNDTYNLYISDTHGIYFTLAMENIK
2:219321817-219321819 GAA>-	0.0	4346	COLORECTAL	-	-	-	-	USP37	ENST00000258399,p.903_904del|uc002vie.2,p.903_904del|uc010zkf.1,p.903_904del|uc002vig.2,p.809_810del|uc002vif.2,p.903_904del|uc010fvs.1,p.903_904del|NM_020935,p.903_904del|ENST00000454775,p.903_904del|ENST00000418019,p.903_904del|ENST00000415516,p.809_810del	protein_coding, processed_transcript	uc010zkf.1	nonframeshift deletion	exon24	c.2709_2711del	p.903_904del	LISVVSHIGSTSSSGHYISDVYDIKK	LISVVSHIGSTSSGHYISDVYDIKK	6.0	8.0	-	-	4346_2:219321817-219321819 GAA>-_LISVVSHIGSTSSGHYISDVYDIKK
15:101432743-101432743 C>A	0.0	4346	COLORECTAL	-	-	-	-	ALDH1A3	ENST00000561338,p.P97Q|ENST00000329841,p.P125Q|uc002bwn.4,p.P125Q|NM_000693,p.P125Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002bwn.4	nonsynonymous SNV	exon4	c.C374A	p.P125Q	TLAALETMDTGKPFLHAFFIDLEGC	TLAALETMDTGKQFLHAFFIDLEGC	4.0	7.0	-	-	4346_15:101432743-101432743 C>A_TLAALETMDTGKQFLHAFFIDLEGC
19:23542247-23542247 C>G	0.0	4346	COLORECTAL	-	-	ID=COSM1289230,COSM1289231;OCCURENCE=1(autonomic_ganglia)	-	ZNF91	uc010xrj.2,p.M1146I|ENST00000397082,p.M1146I|NM_003430,p.M1178I|uc002nre.3,p.M1178I|ENST00000300619,p.M1178I|NM_001300951,p.M1146I	retained_intron, protein_coding, processed_transcript	uc010xrj.2	nonsynonymous SNV	exon3	c.G3438C	p.M1146I	WEAEAGGSRGQEMETILANTVKPLL	WEAEAGGSRGQEIETILANTVKPLL	10.0	5.0	unscreened	-	4346_19:23542247-23542247 C>G_WEAEAGGSRGQEIETILANTVKPLL
11:123894095-123894095 A>T	0.0	4346	COLORECTAL	-	-	-	-	OR10G9	uc010sad.2,p.S126C|ENST00000375024,p.S126C|NM_001001953,p.S126C	protein_coding	uc010sad.2	nonsynonymous SNV	exon1	c.A376T	p.S126C	YTVMSYDRYLAISYPLRYTSMMSGS	YTVMSYDRYLAICYPLRYTSMMSGS	1.0	9.0	unscreened	-	4346_11:123894095-123894095 A>T_YTVMSYDRYLAICYPLRYTSMMSGS
16:31414857-31414857 C>G	0.0	4346	COLORECTAL	-	-	-	-	ITGAD	uc002ebv.1,p.H199D|uc010vfl.1,p.H199D|NM_005353,p.H199D|uc010cap.1,p.H199D|ENST00000389202,p.H199D	retained_intron, protein_coding	uc010vfl.1	nonsynonymous SNV	exon7	c.C595G	p.H199D	FALMQYSNLLKIHFTFTQFRTSPSQ	FALMQYSNLLKIDFTFTQFRTSPSQ	2.0	7.0	-	-	4346_16:31414857-31414857 C>G_FALMQYSNLLKIDFTFTQFRTSPSQ
14:92537373-92537373 ->TGCTGCTGCTGCT	0.0	4346	COLORECTAL	-	-	-	-	ATXN3	uc021rzd.1,p.A87fs|NM_001164776,p.A87fs|uc021rzf.1,p.A32fs|NM_001164777,p.A32fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021rzf.1	frameshift insertion	exon3	c.93_94insAGCAGCAGCAGCA	p.A32fs	FSIQTAAKAATAAAAAAAGGPIRTE	FSIQTAAKAATASSSSSSSSSSRGTYQDRVHIHV	9.0	5.0	unscreened	-	4346_14:92537373-92537373 ->TGCTGCTGCTGCT_FSIQTAAKAATASSSSSSSSSSRGTYQDRVHIHV
14:92537373-92537373 ->TGCTGCTGCTGCT	0.0	4346	COLORECTAL	-	-	-	-	ATXN3	uc021rzi.1,p.A72fs|NM_001164774,p.A72fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021rzi.1	frameshift insertion	exon3	c.213_214insAGCAGCAGCAGCA	p.A72fs	TFLQTAAKAATAAAAAAAGGPIRTE	TFLQTAAKAATASSSSSSSSSSRGTYQDRVHIHV	9.0	5.0	unscreened	-	4346_14:92537373-92537373 ->TGCTGCTGCTGCT_TFLQTAAKAATASSSSSSSSSSRGTYQDRVHIHV
14:92537373-92537373 ->TGCTGCTGCTGCT	0.0	4346	COLORECTAL	-	-	-	-	ATXN3	uc021rzj.1,p.A17fs|NM_001164782,p.A17fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021rzj.1	frameshift insertion	exon2	c.48_49insAGCAGCAGCAGCA	p.A17fs	FHEKTAAKAATAAAAAAAGGPIRTE	FHEKTAAKAATASSSSSSSSSSRGTYQDRVHIHV	9.0	5.0	unscreened	-	4346_14:92537373-92537373 ->TGCTGCTGCTGCT_FHEKTAAKAATASSSSSSSSSSRGTYQDRVHIHV
14:92537373-92537373 ->TGCTGCTGCTGCT	0.0	4346	COLORECTAL	-	-	-	-	ATXN3	NM_001164778,p.A138fs|uc021rza.1,p.A138fs	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021rza.1	frameshift insertion	exon6	c.411_412insAGCAGCAGCAGCA	p.A138fs	LGKQTAAKAATAAAAAAAGGPIRTE	LGKQTAAKAATASSSSSSSSSSRGTYQDRVHIHV	9.0	5.0	unscreened	-	4346_14:92537373-92537373 ->TGCTGCTGCTGCT_LGKQTAAKAATASSSSSSSSSSRGTYQDRVHIHV
3:48619008-48619008 G>A	0.0	4346	COLORECTAL	-	-	-	-	COL7A1	ENST00000454817,p.R1594W|NM_000094,p.R1594W|uc003ctz.2,p.R1594W|ENST00000328333,p.R1594W	retained_intron, protein_coding, processed_transcript	uc003ctz.2	nonsynonymous SNV	exon49	c.C4780T	p.R1594W	PGDPGPKGDPGDRGPIGLTGRAGPP	PGDPGPKGDPGDWGPIGLTGRAGPP	6.0	2.0	-	-	4346_3:48619008-48619008 G>A_PGDPGPKGDPGDWGPIGLTGRAGPP
2:233413954-233413954 T>G	0.0	4346	COLORECTAL	-	-	-	-	TIGD1	uc002vsy.2,p.K213N|NM_145702,p.K213N|ENST00000408957,p.K213N	protein_coding	uc002vsy.2	nonsynonymous SNV	exon1	c.A639C	p.K213N	FIAREEKSVPGFKASKDRLTLLLGA	FIAREEKSVPGFNASKDRLTLLLGA	5.0	2.0	unscreened	-	4346_2:233413954-233413954 T>G_FIAREEKSVPGFNASKDRLTLLLGA
2:21229725-21229725 A>G	0.0	4346	COLORECTAL	-	-	-	-	APOB	NM_000384,p.Y3339H|ENST00000233242,p.Y3339H|uc002red.3,p.Y3339H	protein_coding	uc002red.3	nonsynonymous SNV	exon26	c.T10015C	p.Y3339H	SHIFIPAMGNITYDFSFKSSVITLN	SHIFIPAMGNITHDFSFKSSVITLN	1.0	9.0	-	-	4346_2:21229725-21229725 A>G_SHIFIPAMGNITHDFSFKSSVITLN
8:110476992-110476992 C>T	0.0	4346	COLORECTAL	-	-	-	-	PKHD1L1	ENST00000378402,p.A2644V|uc003yne.3,p.A2644V|NM_177531,p.A2644V	retained_intron, protein_coding	uc003yne.3	nonsynonymous SNV	exon49	c.C7931T	p.A2644V	PMQTGSCTSTVPAPAIFNSLTTWNC	PMQTGSCTSTVPVPAIFNSLTTWNC	4.0	1.0	-	-	4346_8:110476992-110476992 C>T_PMQTGSCTSTVPVPAIFNSLTTWNC
11:116692113-116692113 G>A	0.0	4346	COLORECTAL	-	-	ID=COSM243004;OCCURENCE=1(prostate)	-	APOA4	NM_000482,p.R221C|ENST00000357780,p.R221C|uc001pps.1,p.R221C	protein_coding	uc001pps.1	nonsynonymous SNV	exon3	c.C661T	p.R221C	KVKIDQTVEELRRSLAPYAQDTQEK	KVKIDQTVEELRCSLAPYAQDTQEK	1.0	6.0	-	-	4346_11:116692113-116692113 G>A_KVKIDQTVEELRCSLAPYAQDTQEK
20:45170125-45170125 C>T	0.0	4346	COLORECTAL	-	-	-	-	OCSTAMP	NM_080721,p.E497K|uc010zxu.2,p.E497K|ENST00000279028,p.E497K	protein_coding	uc010zxu.2	nonsynonymous SNV	exon3	c.G1489A	p.E497K	RLDALRTESSEGEGKELWSCRDLSC	RLDALRTESSEGKGKELWSCRDLSC	1.0	6.0	-	-	4346_20:45170125-45170125 C>T_RLDALRTESSEGKGKELWSCRDLSC
6:38890879-38890879 G>A	0.0	4346	COLORECTAL	-	-	-	-	DNAH8	ENST00000359357,p.A3353T|NM_001206927,p.A3570T|uc003ooe.2,p.A3353T|uc021yzh.1,p.A3570T|ENST00000449981,p.A3570T|ENST00000441566,p.A3317T|ENST00000327475,p.A3558T	protein_coding	uc021yzh.1	nonsynonymous SNV	exon72	c.G10708A	p.A3570T	NDADTCRKKMQAASTLIDGLSGEKI	NDADTCRKKMQATSTLIDGLSGEKI	1.0	10.0	-	-	4346_6:38890879-38890879 G>A_NDADTCRKKMQATSTLIDGLSGEKI
4:71508447-71508447 A>T	0.0	4346	COLORECTAL	-	-	-	-	ENAM	uc011caw.1,p.N435I|ENST00000396073,p.N435I|NM_031889,p.N435I	retained_intron, protein_coding, processed_transcript	uc011caw.1	nonsynonymous SNV	exon9	c.A1304T	p.N435I	KPGPVVRNEKIQNPKEKPLGPKEQI	KPGPVVRNEKIQIPKEKPLGPKEQI	1.0	9.0	unscreened	-	4346_4:71508447-71508447 A>T_KPGPVVRNEKIQIPKEKPLGPKEQI
2:178481702-178481702 T>G	0.0	4346	COLORECTAL	-	-	-	-	TTC30A	ENST00000355689,p.K576N|NM_152275,p.K576N|uc002ulo.3,p.K576N	protein_coding	uc002ulo.3	nonsynonymous SNV	exon1	c.A1728C	p.K576N	ISRVIKSLEPYNKKLGTDTWYYAKR	ISRVIKSLEPYNNKLGTDTWYYAKR	4.0	4.0	-	-	4346_2:178481702-178481702 T>G_ISRVIKSLEPYNNKLGTDTWYYAKR
11:1093274-1093274 C>T	0.0	4346	COLORECTAL	-	-	-	-	MUC2	ENST00000359061,p.S1665L|ENST00000441003,p.S1698L	protein_coding	ENST00000441003	nonsynonymous SNV	exon30	c.C5093T	p.S1698L	PTPTPTGTQTPTSTPITTTTTVTPT	PTPTPTGTQTPTLTPITTTTTVTPT	4.0	4.0	-	-	4346_11:1093274-1093274 C>T_PTPTPTGTQTPTLTPITTTTTVTPT
3:43097768-43097768 G>A	0.0	4346	COLORECTAL	-	-	-	-	FAM198A	uc003cmp.4,p.G540R|ENST00000273146,p.G540R|NM_001129908,p.G540R|ENST00000430121,p.G540R|ENST00000488863,p.G111R	retained_intron, protein_coding, nonsense_mediated_decay	uc003cmp.4	nonsynonymous SNV	exon5	c.G1618A	p.G540R	LQMDPVFWESQGGAQGLKQVLQTLE	LQMDPVFWESQGRAQGLKQVLQTLE	2.0	8.0	-	-	4346_3:43097768-43097768 G>A_LQMDPVFWESQGRAQGLKQVLQTLE
5:13901543-13901543 C>T	0.0	4346	COLORECTAL	-	-	-	-	DNAH5	NM_001369,p.A624T|uc003jfd.2,p.A624T|ENST00000265104,p.A624T	retained_intron, protein_coding, processed_transcript	uc003jfd.2	nonsynonymous SNV	exon14	c.G1870A	p.A624T	YDPPLARNQPPIAGKILWARQLFHR	YDPPLARNQPPITGKILWARQLFHR	4.0	7.0	-	-	4346_5:13901543-13901543 C>T_YDPPLARNQPPITGKILWARQLFHR
12:40645084-40645084 G>C	0.0	4346	COLORECTAL	-	-	-	-	LRRK2	ENST00000343742,p.E337Q|ENST00000298910,p.E337Q|uc001rmg.4,p.E337Q|NM_198578,p.E337Q	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001rmg.4	nonsynonymous SNV	exon9	c.G1009C	p.E337Q	LNQDLEEKNENQENDDEGEEDKLFW	LNQDLEEKNENQQNDDEGEEDKLFW	8.0	10.0	-	-	4346_12:40645084-40645084 G>C_LNQDLEEKNENQQNDDEGEEDKLFW
14:51464776-51464776 G>A	0.0	4346	COLORECTAL	-	-	-	-	TRIM9	ENST00000360392,p.T532M|NM_052978,p.T532M|uc001wyz.4,p.T532M	retained_intron, protein_coding, processed_transcript	uc001wyz.4	nonsynonymous SNV	exon7	c.C1595T	p.T532M	GVSPYSKTLVLQTSEGKALQQYPSE	GVSPYSKTLVLQMSEGKALQQYPSE	3.0	1.0	-	-	4346_14:51464776-51464776 G>A_GVSPYSKTLVLQMSEGKALQQYPSE
14:51464776-51464776 G>A	0.0	4346	COLORECTAL	-	-	-	-	TRIM9	NM_015163,p.T532M|uc001wyx.4,p.T532M|ENST00000298355,p.T532M	retained_intron, protein_coding, processed_transcript	uc001wyx.4	nonsynonymous SNV	exon7	c.C1595T	p.T532M	GVSPYSKTLVLQTSEVAWFAFDPGS	GVSPYSKTLVLQMSEVAWFAFDPGS	3.0	1.0	-	-	4346_14:51464776-51464776 G>A_GVSPYSKTLVLQMSEVAWFAFDPGS
13:103698602-103698602 C>A	0.0	4346	COLORECTAL	-	-	-	-	SLC10A2	uc001vpy.4,p.A310S|NM_000452,p.A310S|ENST00000245312,p.A310S	protein_coding	uc001vpy.4	nonsynonymous SNV	exon6	c.G928T	p.A310S	LAFAAIFLGFYVAYKKCHGKNKAEI	LAFAAIFLGFYVSYKKCHGKNKAEI	1.0	2.0	-	-	4346_13:103698602-103698602 C>A_LAFAAIFLGFYVSYKKCHGKNKAEI
3:102157378-102157378 C>T	0.0	4346	COLORECTAL	0.0005	-	ID=COSM1234790;OCCURENCE=1(large_intestine)	-	ZPLD1	NM_175056,p.P32L|ENST00000306176,p.P32L|ENST00000466937,p.P16L|ENST00000491959,p.P16L|uc003dvs.1,p.P16L|uc003dvt.1,p.P32L|uc011bhg.1,p.P16L	protein_coding, processed_transcript	uc011bhg.1	nonsynonymous SNV	exon3	c.C47T	p.P16L	IWLLLLLTIRVLPGSAQFNGYNCDA	IWLLLLLTIRVLLGSAQFNGYNCDA	1.0	9.0	-	-	4346_3:102157378-102157378 C>T_IWLLLLLTIRVLLGSAQFNGYNCDA
3:140785271-140785271 C>T	0.0	4346	COLORECTAL	-	-	-	-	SPSB4	uc003ett.3,p.R109C|uc010hum.3,p.R109C|ENST00000310546,p.R109C|NM_080862,p.R109C	protein_coding, processed_transcript, nonsense_mediated_decay	uc010hum.3	nonsynonymous SNV	exon1	c.C325T	p.R109C	LHAWQINWPARQRGTHAVVGVATAR	LHAWQINWPARQCGTHAVVGVATAR	1.0	6.0	-	-	4346_3:140785271-140785271 C>T_LHAWQINWPARQCGTHAVVGVATAR
1:35351108-35351108 G>A	0.0	4346	COLORECTAL	-	-	-	-	DLGAP3	ENST00000373347,p.R629W|uc001byc.3,p.R629W|ENST00000235180,p.R629W|NM_001080418,p.R629W	protein_coding, processed_transcript	uc001byc.3	nonsynonymous SNV	exon5	c.C1885T	p.R629W	PGREELRSLARQRKWRPSIGVQVET	PGREELRSLARQWKWRPSIGVQVET	2.0	9.0	-	-	4346_1:35351108-35351108 G>A_PGREELRSLARQWKWRPSIGVQVET
13:95112365-95112365 C>T	0.0	4346	COLORECTAL	-	-	-	-	DCT	ENST00000483392,p.A197T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000483392	nonsynonymous SNV	exon5	c.G589A	p.A197T	FLNGTNALPHSAANDPIFVKRESDQ	FLNGTNALPHSATNDPIFVKRESDQ	2.0	1.0	unscreened	-	4346_13:95112365-95112365 C>T_FLNGTNALPHSATNDPIFVKRESDQ
12:53587134-53587134 G>A	0.0	4346	COLORECTAL	-	-	-	-	ITGB7	NM_000889,p.R506C|ENST00000267082,p.R506C|uc009zmv.3,p.R506C|uc001scc.3,p.R506C|ENST00000422257,p.R506C	retained_intron, protein_coding, nonsense_mediated_decay	uc009zmv.3	nonsynonymous SNV	exon11	c.C1516T	p.R506C	HLQCGVCSCAPGRLGRLCECSVAEL	HLQCGVCSCAPGCLGRLCECSVAEL	5.0	4.0	-	-	4346_12:53587134-53587134 G>A_HLQCGVCSCAPGCLGRLCECSVAEL
7:38948760-38948760 C>A	1.0	4346	COLORECTAL	-	-	-	-	VPS41	uc003tgz.3,p.E5D|ENST00000395969,p.E5D|uc010kxn.3,p.E5D|ENST00000310301,p.E5D|NM_014396,p.E5D|uc003tgy.3,p.E5D|ENST00000265745,p.E5D|NM_080631,p.E5D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kxn.3	nonsynonymous SNV	exon1	c.G15T	p.E5D	MAEAEEQETGSLEESTD	MAEADEQETGSLEESTD	9.0	9.0	-	-	4346_7:38948760-38948760 C>A_MAEADEQETGSLEESTD
16:28331829-28331829 G>A	0.0	4346	COLORECTAL	-	-	-	-	SBK1	ENST00000341901,p.A288T|NM_001024401,p.A288T|uc002dpd.3,p.A288T	protein_coding	uc002dpd.3	nonsynonymous SNV	exon4	c.G862A	p.A288T	GLPSQWRRFTEPALRMFQRLLALEP	GLPSQWRRFTEPTLRMFQRLLALEP	3.0	1.0	-	-	4346_16:28331829-28331829 G>A_GLPSQWRRFTEPTLRMFQRLLALEP
5:140237240-140237240 C>T	0.0	4346	COLORECTAL	-	-	ID=COSM3393217,COSM736163,COSM736164;OCCURENCE=1(lung),1(pancreas),1(large_intestine)	-	PCDHA10	uc011dad.2,p.A536V|uc003lhx.2,p.A536V|NM_031859,p.A536V|ENST00000307360,p.A536V|NM_018901,p.A536V	protein_coding	uc011dad.2	nonsynonymous SNV	exon1	c.C1607T	p.A536V	HEELELLQFQVSARDGGVPPLGSNL	HEELELLQFQVSVRDGGVPPLGSNL	3.0	5.0	-	-	4346_5:140237240-140237240 C>T_HEELELLQFQVSVRDGGVPPLGSNL
14:51464776-51464776 G>A	0.0	4346	COLORECTAL	-	-	-	-	TRIM9	uc001wyy.2,p.T528M|ENST00000338969,p.T528M	retained_intron, protein_coding, processed_transcript	uc001wyy.2	nonsynonymous SNV	exon7	c.C1583T	p.T528M	GVSPYSKTLVLQTSEDTDSEEQTLP	GVSPYSKTLVLQMSEDTDSEEQTLP	3.0	1.0	-	-	4346_14:51464776-51464776 G>A_GVSPYSKTLVLQMSEDTDSEEQTLP
4:71508441-71508441 T>C	0.0	4346	COLORECTAL	-	-	-	-	ENAM	NM_031889,p.I433T|ENST00000396073,p.I433T|uc011caw.1,p.I433T	retained_intron, protein_coding, processed_transcript	uc011caw.1	nonsynonymous SNV	exon9	c.T1298C	p.I433T	GPKPGPVVRNEKIQNPKEKPLGPKE	GPKPGPVVRNEKTQNPKEKPLGPKE	1.0	8.0	unscreened	-	4346_4:71508441-71508441 T>C_GPKPGPVVRNEKTQNPKEKPLGPKE
11:123886657-123886657 A>T	0.0	4346	COLORECTAL	-	-	-	-	OR10G4	ENST00000320891,p.S126C|NM_001004462,p.S126C|uc010sac.2,p.S126C	protein_coding	uc010sac.2	nonsynonymous SNV	exon1	c.A376T	p.S126C	YTVMSYDRYLAISYPLRYTSMMSGS	YTVMSYDRYLAICYPLRYTSMMSGS	1.0	2.0	-	-	4346_11:123886657-123886657 A>T_YTVMSYDRYLAICYPLRYTSMMSGS
13:95112365-95112365 C>T	0.0	4346	COLORECTAL	-	-	-	-	DCT	ENST00000446125,p.A387T|uc010afh.3,p.A387T|NM_001129889,p.A387T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010afh.3	nonsynonymous SNV	exon6	c.G1159A	p.A387T	FLNGTNALPHSAANDPIFVVISNRL	FLNGTNALPHSATNDPIFVVISNRL	2.0	1.0	-	-	4346_13:95112365-95112365 C>T_FLNGTNALPHSATNDPIFVVISNRL
6:153345480-153345480 T>G	0.0	4346	COLORECTAL	-	-	-	-	RGS17	uc003qpm.3,p.K121Q|ENST00000206262,p.K121Q|ENST00000367225,p.K121Q|NM_012419,p.K121Q	protein_coding	uc003qpm.3	nonsynonymous SNV	exon4	c.A361C	p.K121Q	ENLLFWLACEDLKKEQNKKVIEEKA	ENLLFWLACEDLQKEQNKKVIEEKA	1.0	3.0	-	-	4346_6:153345480-153345480 T>G_ENLLFWLACEDLQKEQNKKVIEEKA
12:81545861-81545862 AC>-	0.0	4346	COLORECTAL	-	-	-	-	ACSS3	ENST00000548058,p.T362fs|ENST00000261206,p.T361fs|uc001szl.1,p.T362fs|uc001szm.1,p.T361fs|NM_024560,p.T362fs|ENST00000548324,p.T44fs|uc001szn.1,p.T44fs	retained_intron, protein_coding, nonsense_mediated_decay	uc001szn.1	frameshift deletion	exon2	c.130_131del	p.T44fs	YICYGPLLHGNTTVLYEGKPVGTPDA	YICYGPLLHGNTSFI	4.0	1.0	-	-	4346_12:81545861-81545862 AC>-_YICYGPLLHGNTSFI
7:38948760-38948760 C>A	1.0	4346	COLORECTAL	-	-	-	-	VPS41	ENST00000414632,p.E5D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	ENST00000414632	nonsynonymous SNV	exon1	c.G15T	p.E5D	MAEAEEQEEESEEEPKL	MAEADEQEEESEEEPKL	9.0	9.0	unscreened	-	4346_7:38948760-38948760 C>A_MAEADEQEEESEEEPKL
13:95112365-95112365 C>T	0.0	4346	COLORECTAL	-	-	-	-	DCT	uc001vlv.4,p.A387T|NM_001922,p.A387T|ENST00000377028,p.A387T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001vlv.4	nonsynonymous SNV	exon6	c.G1159A	p.A387T	FLNGTNALPHSAANDPIFVVLHSFT	FLNGTNALPHSATNDPIFVVLHSFT	2.0	1.0	-	-	4346_13:95112365-95112365 C>T_FLNGTNALPHSATNDPIFVVLHSFT
12:11461706-11461706 G>T	0.0	4346	COLORECTAL	-	-	-	-	PRB4	uc001qzf.2,p.P71T|ENST00000279575,p.P71T|uc031qgh.1,p.P71T|ENST00000535904,p.P71T|uc001qzt.4,p.P71T|ENST00000445719,p.P71T|NM_002723,p.P71T|NM_001261399,p.P71T	protein_coding	uc031qgh.1	nonsynonymous SNV	exon3	c.C211A	p.P71T	GPPPQGGNQSQGPPPPPGKPEGRPP	GPPPQGGNQSQGTPPPPGKPEGRPP	1.0	7.0	unscreened	-	4346_12:11461706-11461706 G>T_GPPPQGGNQSQGTPPPPGKPEGRPP
8:116616171-116616171 T>A	0.0	4346	COLORECTAL	-	-	-	-	TRPS1	ENST00000519674,p.E662D|uc011lhy.2,p.E666D|NM_001282902,p.E666D|ENST00000220888,p.E662D|ENST00000519076,p.E416D|ENST00000395715,p.E675D|NM_014112,p.E675D|uc003ynz.3,p.E662D|ENST00000517323,p.E466D|uc010mcy.3,p.E662D|uc003yny.3,p.E675D|ENST00000520276,p.E666D|NM_001282903,p.E668D	protein_coding, nonsense_mediated_decay	uc011lhy.2	nonsynonymous SNV	exon3	c.A1998T	p.E666D	HLQGSDGQQSVKESKEHSCTKCDFI	HLQGSDGQQSVKDSKEHSCTKCDFI	5.0	8.0	-	-	4346_8:116616171-116616171 T>A_HLQGSDGQQSVKDSKEHSCTKCDFI
3:78688924-78688924 C>T	0.0	4346	COLORECTAL	-	-	-	-	ROBO1	NM_001145845,p.D958N|uc003dqc.2,p.D958N|ENST00000467549,p.D958N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003dqc.2	nonsynonymous SNV	exon20	c.G2872A	p.D958N	SISCCTAGNGNSDSNLTTYSRPGQP	SISCCTAGNGNSNSNLTTYSRPGQP	5.0	4.0	-	-	4346_3:78688924-78688924 C>T_SISCCTAGNGNSNSNLTTYSRPGQP
3:78688924-78688924 C>T	0.0	4346	COLORECTAL	-	-	-	-	ROBO1	NM_133631,p.D958N|uc003dqb.2,p.D964N|uc003dqd.2,p.D958N|uc011bgl.1,p.D575N|uc003dqe.2,p.D1003N|uc010hoh.2,p.D195N|ENST00000436010,p.D964N|NM_002941,p.D1003N|ENST00000495273,p.D958N|ENST00000464233,p.D1003N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011bgl.1	nonsynonymous SNV	exon12	c.G1723A	p.D575N	SISCCTAGNGNSDSNLTTYSRPADC	SISCCTAGNGNSNSNLTTYSRPADC	5.0	4.0	-	-	4346_3:78688924-78688924 C>T_SISCCTAGNGNSNSNLTTYSRPADC
1:245850920-245850920 C>G	0.0	4346	COLORECTAL	-	-	-	-	KIF26B	uc001ibg.1,p.S1163R|uc001ibh.1,p.S787R|NM_018012,p.S1545R|ENST00000366518,p.S1164R|ENST00000407071,p.S1545R|uc001ibf.1,p.S1545R	retained_intron, protein_coding, processed_transcript	uc001ibh.1	nonsynonymous SNV	exon3	c.C2361G	p.S787R	KSSSLPRAFQKASRQEEPDSLSYYC	KSSSLPRAFQKARRQEEPDSLSYYC	3.0	5.0	-	-	4346_1:245850920-245850920 C>G_KSSSLPRAFQKARRQEEPDSLSYYC
1:152192471-152192471 C>T	0.0	4346	COLORECTAL	0.0032	-	ID=COSM458591;OCCURENCE=1(cervix),1(lung)	-	HRNR	ENST00000368801,p.R545H|NM_001009931,p.R545H|uc001ezt.2,p.R545H	protein_coding	uc001ezt.2	nonsynonymous SNV	exon3	c.G1634A	p.R545H	HGSGSGQSPSPSRGRHESGSRQSSS	HGSGSGQSPSPSHGRHESGSRQSSS	1.0	8.0	-	-	4346_1:152192471-152192471 C>T_HGSGSGQSPSPSHGRHESGSRQSSS
17:3585214-3585214 C>T	0.0	4346	COLORECTAL	-	-	-	-	P2RX5	ENST00000550383,p.R347H|NM_002561,p.R347H|ENST00000345901,p.R323H|uc002fwi.3,p.R347H|ENST00000551178,p.R322H|NM_175080,p.R322H|NM_001204520,p.R323H|ENST00000225328,p.R347H|uc002fwj.3,p.R322H|ENST00000435558,p.R347H|ENST00000547178,p.R346H|ENST00000552276,p.R346H|uc002fwk.3,p.R346H|uc002fwl.3,p.R323H|uc010vrx.2,p.R287H|ENST00000552050,p.R287H|NM_001204519,p.R346H	 processed_transcript,retained_intron, nonsense_mediated_decay, protein_coding	uc010vrx.2	nonsynonymous SNV	exon8	c.G860A	p.R287H	VLIYLIKKREFYRDKKYEEVRGLED	VLIYLIKKREFYHDKKYEEVRGLED	4.0	7.0	-	-	4346_17:3585214-3585214 C>T_VLIYLIKKREFYHDKKYEEVRGLED
12:55759357-55759357 T>A	0.0	4346	COLORECTAL	-	-	-	-	OR6C75	NM_001005497,p.F155I|ENST00000343399,p.F155I|uc010spk.2,p.F155I	protein_coding	uc010spk.2	nonsynonymous SNV	exon1	c.T463A	p.F155I	VFSSWLAGFLIIFPPVMLLLQLDFC	VFSSWLAGFLIIIPPVMLLLQLDFC	1.0	3.0	-	-	4346_12:55759357-55759357 T>A_VFSSWLAGFLIIIPPVMLLLQLDFC
1:211093127-211093127 C>G	0.0	4346	COLORECTAL	-	-	-	-	KCNH1	uc001hib.2,p.K439N|uc001hic.2,p.K412N|ENST00000271751,p.K439N|NM_172362,p.K439N|NM_002238,p.K412N|ENST00000367007,p.K412N	protein_coding	uc001hic.2	nonsynonymous SNV	exon7	c.G1236C	p.K412N	GTPYQFNGSGSGKWEGGPSKNSVYI	GTPYQFNGSGSGNWEGGPSKNSVYI	2.0	8.0	-	-	4346_1:211093127-211093127 C>G_GTPYQFNGSGSGNWEGGPSKNSVYI
19:11917273-11917273 A>C	0.0	4346	COLORECTAL	-	-	-	-	ZNF491	uc021upj.1,p.S169R|ENST00000323169,p.S169R|uc002mso.1,p.S169R|NM_152356,p.S169R	protein_coding, processed_transcript	uc021upj.1	nonsynonymous SNV	exon1	c.A505C	p.S169R	KRYECKQCGKAFSWHSSVRIHERTH	KRYECKQCGKAFRWHSSVRIHERTH	4.0	2.0	-	-	4346_19:11917273-11917273 A>C_KRYECKQCGKAFRWHSSVRIHERTH
17:10406444-10406444 G>C	0.0	4346	COLORECTAL	-	-	-	-	MYH1	uc002gmo.3,p.A938G|ENST00000226207,p.A938G|NM_005963,p.A938G	protein_coding	uc002gmo.3	nonsynonymous SNV	exon23	c.C2813G	p.A938G	VTERAEDEEEINAELTAKKRKLEDE	VTERAEDEEEINGELTAKKRKLEDE	1.0	7.0	-	-	4346_17:10406444-10406444 G>C_VTERAEDEEEINGELTAKKRKLEDE
12:51237706-51237706 C>T	0.0	4346	COLORECTAL	-	-	-	-	TMPRSS12	uc001rwx.4,p.P90L|uc001rwy.3,p.P90L|NM_182559,p.P90L|ENST00000551456,p.P90L|ENST00000398458,p.P90L	protein_coding	uc001rwy.3	nonsynonymous SNV	exon2	c.C269T	p.P90L	IIGGTEAQAGAWPWVVSLQIKYGRV	IIGGTEAQAGAWLWVVSLQIKYGRV	1.0	4.0	-	-	4346_12:51237706-51237706 C>T_IIGGTEAQAGAWLWVVSLQIKYGRV
6:159646683-159646683 C>A	0.0	4346	COLORECTAL	-	-	-	-	FNDC1	ENST00000297267,p.A334E|ENST00000340366,p.A334E|uc010kjw.1,p.A282E|uc010kjv.3,p.A334E|NM_032532,p.A334E	protein_coding, processed_transcript	uc010kjw.1	nonsynonymous SNV	exon7	c.C845A	p.A282E	IENLIPDTVYEFAVRISQGERDGKW	IENLIPDTVYEFEVRISQGERDGKW	4.0	4.0	-	-	4346_6:159646683-159646683 C>A_IENLIPDTVYEFEVRISQGERDGKW
8:11188884-11188884 G>A	0.0	4346	COLORECTAL	0.0009	-	-	-	SLC35G5	uc003wtp.1,p.R90H|NM_054028,p.R90H|ENST00000382435,p.R90H	protein_coding	uc003wtp.1	nonsynonymous SNV	exon1	c.G269A	p.R90H	LFHLPIALLLKLRGDPLLGPPDIRG	LFHLPIALLLKLHGDPLLGPPDIRG	3.0	2.0	-	-	4346_8:11188884-11188884 G>A_LFHLPIALLLKLHGDPLLGPPDIRG
X:118230626-118230626 T>C	0.0	4346	COLORECTAL	-	-	-	-	KIAA1210	ENST00000402510,p.D366G|uc004era.4,p.D366G|NM_020721,p.D366G	protein_coding	uc004era.4	nonsynonymous SNV	exon8	c.A1097G	p.D366G	ATQSFSELSSGPDCSQSLTAFATLA	ATQSFSELSSGPGCSQSLTAFATLA	1.0	2.0	-	-	4346_X:118230626-118230626 T>C_ATQSFSELSSGPGCSQSLTAFATLA
6:165711557-165711557 T>C	0.0	4346	COLORECTAL	-	-	-	-	C6orf118	ENST00000230301,p.R324G|ENST00000543069,p.R220G|NM_144980,p.R324G|uc003qum.4,p.R324G	protein_coding, processed_transcript	uc003qum.4	nonsynonymous SNV	exon5	c.A970G	p.R324G	EALLAQLKALGQRPVKTADMDLARE	EALLAQLKALGQGPVKTADMDLARE	3.0	3.0	-	-	4346_6:165711557-165711557 T>C_EALLAQLKALGQGPVKTADMDLARE
1:111060224-111060224 C>T	0.0	4346	COLORECTAL	-	-	-	-	KCNA10	ENST00000369771,p.A396T|uc001dzt.1,p.A396T|NM_005549,p.A396T	protein_coding	uc001dzt.1	nonsynonymous SNV	exon1	c.G1186A	p.A396T	IGVILFSSAVYFAEVDEPESHFSSI	IGVILFSSAVYFTEVDEPESHFSSI	1.0	3.0	-	-	4346_1:111060224-111060224 C>T_IGVILFSSAVYFTEVDEPESHFSSI
14:73137975-73137975 C>T	0.0	4346	COLORECTAL	-	-	-	-	DPF3	uc010ari.1,p.G315S|NM_012074,p.G315S|ENST00000381216,p.G315S|ENST00000366353,p.G370S|NM_001280543,p.G325S|ENST00000541685,p.G315S|uc010ttq.1,p.G325S|ENST00000546183,p.G325S|NM_001280544,p.G370S	protein_coding, processed_transcript, nonsense_mediated_decay	uc010ttq.1	nonsynonymous SNV	exon10	c.G973A	p.G325S	AAAAARTTEDLFGSTSESDTSTFHG	AAAAARTTEDLFSSTSESDTSTFHG	2.0	5.0	-	-	4346_14:73137975-73137975 C>T_AAAAARTTEDLFSSTSESDTSTFHG
19:10676689-10676689 C>T	0.0	4346	COLORECTAL	-	-	-	-	KRI1	ENST00000312962,p.G2D|NM_023008,p.G2D|ENST00000432197,p.G2D|uc002moy.1,p.G2D	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002moy.1	nonsynonymous SNV	exon1	c.G5A	p.G2D	MGHRTAMPEPRGSS	MDHRTAMPEPRGSS	6.0	5.0	-	-	4346_19:10676689-10676689 C>T_MDHRTAMPEPRGSS
19:38797542-38797542 T>C	0.0	4346	COLORECTAL	-	-	-	-	YIF1B	ENST00000591755,p.Q290R|uc002oib.3,p.Q290R	retained_intron, protein_coding, processed_transcript	uc002oib.3	nonsynonymous SNV	exon8	c.A869G	p.Q290R	GGRGGRITRSGDQDHPG	GGRGGRITRSGDRDHPG	6.0	4.0	unscreened	-	4346_19:38797542-38797542 T>C_GGRGGRITRSGDRDHPG
17:20483760-20483760 C>G	0.0	4346	COLORECTAL	-	-	-	-	CDRT15L2	ENST00000399044,p.D188E|uc021tsn.1,p.D188E|NM_001190790,p.D188E	protein_coding	uc021tsn.1	nonsynonymous SNV	exon2	c.C564G	p.D188E	PSPGHGGKHGGGDQGIQTGLLYLAG	PSPGHGGKHGGGEQGIQTGLLYLAG	1.0	4.0	-	-	4346_17:20483760-20483760 C>G_PSPGHGGKHGGGEQGIQTGLLYLAG
11:20699537-20699537 G>T	0.0	4346	COLORECTAL	-	-	-	-	NELL1	uc010rdo.2,p.V39L|NM_001288714,p.V39L|ENST00000532434,p.V39L|ENST00000357134,p.V39L|ENST00000325319,p.V39L|ENST00000298925,p.V67L|NM_001288713,p.V67L|uc001mqe.3,p.V39L|uc001mqf.3,p.V39L|NM_006157,p.V39L|NM_201551,p.V39L|uc009yid.3,p.V67L	retained_intron, protein_coding, processed_transcript	uc010rdo.2	nonsynonymous SNV	exon2	c.G115T	p.V39L	DLQMDIVTELDLVNTTLGVAQVSGM	DLQMDIVTELDLLNTTLGVAQVSGM	1.0	3.0	-	-	4346_11:20699537-20699537 G>T_DLQMDIVTELDLLNTTLGVAQVSGM
17:5037195-5037195 G>A	0.0	4346	COLORECTAL	-	-	-	1	USP6	ENST00000250066,p.R133K|ENST00000574788,p.R133K|NM_004505,p.R133K|ENST00000575709,p.R133K|ENST00000572949,p.R133K|uc002gaw.3,p.R194K|ENST00000332776,p.R133K|uc002gav.1,p.R133K|uc002gau.1,p.R133K	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002gaw.3	nonsynonymous SNV	exon8	c.G581A	p.R194K	LKNPGRYQIMKERGKRSSEHIHHID	LKNPGRYQIMKEKGKRSSEHIHHID	2.0	1.0	-	-	4346_17:5037195-5037195 G>A_LKNPGRYQIMKEKGKRSSEHIHHID
12:25398284-25398284 C>T	1.0	4095	COLON	-	-	ID=COSM521,COSM1135366;OCCURENCE=1(salivary_gland),171(endometrium),265(ovary),20(soft_tissue),19(urinary_tract),1(kidney),2323(pancreas),15(liver),3(eye),22(prostate),321(biliary_tract),6237(large_intestine),18(breast),24(skin),58(small_intestine),25(upper_aerodigestive_tract),10(oesophagus),4(central_nervous_system),93(stomach),2(testis),19(cervix),114(haematopoietic_and_lymphoid_tissue),15(gastrointestinal_tract_(site_indeterminate)),37(thyroid),737(lung),25(peritoneum)	1	KRAS	NM_004985,p.G12D|NM_033360,p.G12D|uc001rgp.1,p.G12D|ENST00000557334,p.G12D|uc001rgq.1,p.G12D|ENST00000311936,p.G12D|ENST00000256078,p.G12D|ENST00000556131,p.G12D	protein_coding	uc001rgq.1	nonsynonymous SNV	exon2	c.G35A	p.G12D	MTEYKLVVVGAGGVGKSALTIQLI	MTEYKLVVVGADGVGKSALTIQLI	9.0	6.0	CD8	-	4095_12:25398284-25398284 C>T_MTEYKLVVVGADGVGKSALTIQLI
19:6750048-6750048 C>T	1.0	4095	COLON	-	-	ID=COSM1579161,COSM1579160;OCCURENCE=1(breast)	-	TRIP10	uc002mfr.3,p.R400W|uc010dux.2,p.R400W|ENST00000313244,p.R456W|NM_004240,p.R400W|ENST00000596758,p.R400W|uc002mfs.3,p.R456W|NM_001288962,p.R456W|NM_001288963,p.R400W|ENST00000600428,p.R292W|ENST00000313285,p.R400W	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dux.2	nonsynonymous SNV	exon11	c.C1198T	p.R400W	EPQIAETLSNIERLKLEVQKYEAWL	EPQIAETLSNIEWLKLEVQKYEAWL	9.0	8.0	unscreened	-	4095_19:6750048-6750048 C>T_EPQIAETLSNIEWLKLEVQKYEAWL
11:64081786-64081786 C>T	1.0	4095	COLON	-	-	ID=COSM930072;OCCURENCE=1(endometrium)	-	ESRRA	ENST00000539594,p.P30L|NM_001282451,p.P173L|uc001nzs.1,p.P173L|uc001nzr.1,p.P173L|NM_001282450,p.P173L|ENST00000406310,p.P173L|NM_004451,p.P173L|ENST00000405666,p.P173L|uc001nzq.1,p.P173L|ENST00000000442,p.P173L	retained_intron, protein_coding	uc001nzs.1	nonsynonymous SNV	exon4	c.C518T	p.P173L	YKRRPEVDPLPFPGPFPAGPLAVAG	YKRRPEVDPLPFLGPFPAGPLAVAG	9.0	7.0	-	-	4095_11:64081786-64081786 C>T_YKRRPEVDPLPFLGPFPAGPLAVAG
14:33201756-33201756 G>T	1.0	4095	COLON	-	-	-	-	AKAP6	ENST00000557272,p.D1033Y|NM_004274,p.D1033Y|ENST00000280979,p.D1033Y|uc001wrq.3,p.D1033Y|ENST00000557354,p.D1033Y|uc010aml.3,p.D1030Y	retained_intron, protein_coding, processed_transcript	uc010aml.3	nonsynonymous SNV	exon10	c.G3088T	p.D1030Y	EALKKGGVLLPNDLLEKVDSINEKW	EALKKGGVLLPNYLLEKVDSINEKW	7.0	9.0	-	-	4095_14:33201756-33201756 G>T_EALKKGGVLLPNYLLEKVDSINEKW
20:61907533-61907533 G>A	1.0	4095	COLON	-	-	-	-	ARFGAP1	uc002yen.3,p.G51R|uc002yel.3,p.G51R|ENST00000370283,p.G51R|ENST00000370275,p.G51R|ENST00000522403,p.G51R|NM_175609,p.G51R|uc002yem.3,p.G51R|ENST00000353546,p.G51R|NM_001281482,p.G51R|NM_018209,p.G51R|ENST00000550188,p.G51R|ENST00000523114,p.G51R|ENST00000520485,p.G51R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002yen.3	nonsynonymous SNV	exon3	c.G151A	p.G51R	IWICLECSGRHRGLGVHLSFVRSVT	IWICLECSGRHRRLGVHLSFVRSVT	9.0	6.0	unscreened	-	4095_20:61907533-61907533 G>A_IWICLECSGRHRRLGVHLSFVRSVT
20:32879271-32879271 C>T	1.0	4095	COLON	-	-	-	-	AHCY	ENST00000217426,p.G171E|NM_001161766,p.G143E|ENST00000538132,p.G143E|NM_000687,p.G171E|uc002xaj.3,p.G143E|uc002xai.3,p.G171E	retained_intron, protein_coding, processed_transcript	uc002xaj.3	nonsynonymous SNV	exon5	c.G428A	p.G143E	TGVHNLYKMMANGILKVPAINVNDS	TGVHNLYKMMANEILKVPAINVNDS	10.0	4.0	unscreened	-	4095_20:32879271-32879271 C>T_TGVHNLYKMMANEILKVPAINVNDS
8:144993596-144993596 G>T	1.0	4095	COLON	-	-	-	-	PLEC	ENST00000345136,p.L3465M|uc003zaf.1,p.L3602M|uc003zad.2,p.L3465M|ENST00000322810,p.L3602M|NM_201381,p.L3433M|ENST00000354958,p.L3443M|NM_000445,p.L3492M|ENST00000436759,p.L3492M|ENST00000354589,p.L3465M|uc003zaj.2,p.L3492M|NM_201378,p.L3451M|uc003zac.1,p.L3469M|NM_201384,p.L3465M|NM_201382,p.L3465M|NM_201383,p.L3469M|ENST00000356346,p.L3451M|uc003zah.2,p.L3451M|ENST00000398774,p.L3433M|uc003zae.1,p.L3433M|uc003zag.1,p.L3443M|NM_201379,p.L3443M|uc003zab.1,p.L3465M|ENST00000357649,p.L3469M|ENST00000527096,p.L3488M|NM_201380,p.L3602M	retained_intron, protein_coding	uc003zaj.2	nonsynonymous SNV	exon33	c.C10474A	p.L3492M	KGLVLRQHGIRLLEAQIATGGIIDP	KGLVLRQHGIRLMEAQIATGGIIDP	8.0	9.0	-	-	4095_8:144993596-144993596 G>T_KGLVLRQHGIRLMEAQIATGGIIDP
19:9868718-9868718 T>G	1.0	4095	COLON	-	-	-	-	ZNF846	ENST00000397902,p.K345N|uc002mmc.1,p.K216N|uc002mmb.1,p.K345N|NM_001077624,p.K345N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002mmc.1	nonsynonymous SNV	exon5	c.A648C	p.K216N	TGEKPYECKECGKAFIHSSYLTKHV	TGEKPYECKECGNAFIHSSYLTKHV	7.0	7.0	unscreened	-	4095_19:9868718-9868718 T>G_TGEKPYECKECGNAFIHSSYLTKHV
4:7820890-7820890 T>A	1.0	4095	COLON	-	-	-	-	AFAP1	uc003gkg.1,p.K245N|uc011bwk.1,p.K245N|NM_001134647,p.K245N|NM_198595,p.K245N|ENST00000382543,p.K245N|ENST00000358461,p.K245N|ENST00000360265,p.K245N|ENST00000420658,p.K245N	retained_intron, protein_coding, processed_transcript	uc011bwk.1	nonsynonymous SNV	exon7	c.A735T	p.K245N	SKEQAEQWLKVIKEAYSGCSGPVDS	SKEQAEQWLKVINEAYSGCSGPVDS	8.0	4.0	unscreened	-	4095_4:7820890-7820890 T>A_SKEQAEQWLKVINEAYSGCSGPVDS
3:185329500-185329500 G>A	1.0	4095	COLON	-	-	-	-	SENP2	NM_021627,p.G262R|ENST00000545472,p.G252R|uc003fpn.3,p.G262R|ENST00000296257,p.G262R|uc011brw.2,p.G75R|ENST00000427465,p.G86R|uc011brv.2,p.G252R	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011brw.2	nonsynonymous SNV	exon7	c.G223A	p.G75R	LKTKGWGEEQNHGVKTTQFVPKQYR	LKTKGWGEEQNHRVKTTQFVPKQYR	9.0	8.0	-	-	4095_3:185329500-185329500 G>A_LKTKGWGEEQNHRVKTTQFVPKQYR
4:169227835-169227835 G>T	1.0	4095	COLON	-	-	-	-	DDX60	ENST00000514995,p.L101I|ENST00000393743,p.L101I|NM_017631,p.L101I|uc003irp.3,p.L101I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003irp.3	nonsynonymous SNV	exon5	c.C301A	p.L101I	DAEYAYFNFPELLSLRTALILHLQK	DAEYAYFNFPELISLRTALILHLQK	8.0	3.0	-	-	4095_4:169227835-169227835 G>T_DAEYAYFNFPELISLRTALILHLQK
1:228505745-228505745 C>T	1.0	4095	COLON	-	-	ID=COSM1996323,COSM1996321,COSM1996322;OCCURENCE=1(pancreas)	-	OBSCN	NM_052843,p.R4668W|uc001hsn.4,p.R4668W|ENST00000366707,p.R2302W|uc001hsq.2,p.R5625W|ENST00000366709,p.R1787W|ENST00000570156,p.R5625W|uc009xez.2,p.R4668W|NM_001098623,p.R4668W|ENST00000284548,p.R4668W|ENST00000422127,p.R4668W|NM_001271223,p.R5625W	retained_intron, protein_coding, processed_transcript	uc009xez.2	nonsynonymous SNV	exon53	c.C14002T	p.R4668W	WHKGMERIQPGGRFEVVSQGRQQML	WHKGMERIQPGGWFEVVSQGRQQML	6.0	10.0	-	-	4095_1:228505745-228505745 C>T_WHKGMERIQPGGWFEVVSQGRQQML
11:67010519-67010519 G>T	1.0	4095	COLON	-	-	-	-	KDM2A	ENST00000530342,p.A68S|uc001ojw.3,p.A507S|uc031qbr.1,p.A490S|uc001ojy.3,p.A201S|uc010rpn.3,p.A68S|ENST00000529006,p.A507S|ENST00000398645,p.A507S|NM_012308,p.A507S|NM_001256405,p.A68S	protein_coding, processed_transcript	uc031qbr.1	nonsynonymous SNV	exon13	c.G1468T	p.A490S	LLEELANSDPKLALTGVPIVQWPKR	LLEELANSDPKLSLTGVPIVQWPKR	9.0	10.0	-	-	4095_11:67010519-67010519 G>T_LLEELANSDPKLSLTGVPIVQWPKR
15:89736484-89736484 C>A	1.0	4095	COLON	-	-	-	-	ABHD2	uc002bnk.2,p.L339M|NM_152924,p.L339M|ENST00000352732,p.L339M|NM_007011,p.L339M|uc002bnj.2,p.L339M|ENST00000355100,p.L339M|ENST00000565973,p.L339M	retained_intron, protein_coding, processed_transcript	uc002bnk.2	nonsynonymous SNV	exon10	c.C1015A	p.L339M	MRYLHRIYVPLMLVNAADDPLVHES	MRYLHRIYVPLMMVNAADDPLVHES	9.0	2.0	unscreened	-	4095_15:89736484-89736484 C>A_MRYLHRIYVPLMMVNAADDPLVHES
1:59248018-59248018 ->G	1.0	4095	COLON	-	-	-	1	JUN	NM_002228,p.L242fs|uc001cze.3,p.L242fs|ENST00000371222,p.L242fs	protein_coding	uc001cze.3	frameshift insertion	exon1	c.724dupC	p.L242fs	QTVPEMPGETPPLSPIDMESQERIK	QTVPEMPGETPPPVPHRHGVPGADQGGEEAHEEPHRCLQVPKKEAGENRPAGGKSENLESSELGAGVHGQHAQGTGGTA	10.0	10.0	-	-	4095_1:59248018-59248018 ->G_QTVPEMPGETPPPVPHRHGVPGADQGGEEAHEEPHRCLQVPKKEAGENRPAGGKSENLESSELGAGVHGQHAQGTGGTA
18:60563103-60563103 C>A	1.0	4095	COLON	-	-	ID=COSM192929;OCCURENCE=1(large_intestine)	-	PHLPP1	ENST00000262719,p.S768Y|NM_194449,p.S768Y|ENST00000400316,p.S256Y|uc021ule.1,p.S768Y	protein_coding, processed_transcript	uc021ule.1	nonsynonymous SNV	exon6	c.C2303A	p.S768Y	LENMKQLSYLGLSFNEFTDIPEVLE	LENMKQLSYLGLYFNEFTDIPEVLE	7.0	2.0	unscreened	-	4095_18:60563103-60563103 C>A_LENMKQLSYLGLYFNEFTDIPEVLE
10:123256234-123256234 G>A	1.0	4095	COLON	-	-	-	1	FGFR2	NM_001144915,p.P470S|ENST00000478859,p.P331S|NM_022970,p.P560S|NM_001144916,p.P444S|uc021pzz.1,p.P559S|NM_000141,p.P559S|ENST00000369058,p.P560S|uc021pzv.1,p.P447S|uc001lfn.5,p.P169S|ENST00000369060,p.P443S|uc001lfg.4,p.P167S|NM_001144917,p.P443S|ENST00000360144,p.P471S|NM_001144918,p.P442S|uc010qtl.2,p.P443S|uc021pzw.1,p.P444S|ENST00000357555,p.P470S|uc010qtm.2,p.P442S|ENST00000346997,p.P557S|ENST00000369056,p.P560S|uc031pxk.1,p.P470S|NM_001144914,p.P447S|ENST00000351936,p.P557S|uc021pzy.1,p.P560S|ENST00000369061,p.P447S|uc021qac.1,p.P488S|ENST00000358487,p.P559S|NM_001144919,p.P471S|NM_001144913,p.P560S|uc021pzx.1,p.P470S|uc021qab.1,p.P471S|ENST00000356226,p.P442S|ENST00000429361,p.P151S|ENST00000369059,p.P445S|ENST00000336553,p.P468S|uc021qaa.1,p.P560S|ENST00000457416,p.P560S|NM_023029,p.P470S	retained_intron, protein_coding, processed_transcript	uc031pxk.1	nonsynonymous SNV	exon11	c.C1408T	p.P470S	IINLLGACTQDGPLYVIVEYASKGN	IINLLGACTQDGSLYVIVEYASKGN	7.0	5.0	unscreened	-	4095_10:123256234-123256234 G>A_IINLLGACTQDGSLYVIVEYASKGN
7:92151454-92151454 G>C	1.0	4095	COLON	-	-	-	-	PEX1	uc011khs.2,p.Q79E|NM_001282677,p.Q79E|ENST00000438045,p.Q79E|ENST00000248633,p.Q79E|uc010ley.3,p.Q79E|uc003uly.3,p.Q79E|ENST00000428214,p.Q79E|NM_000466,p.Q79E	retained_intron, protein_coding, nonsense_mediated_decay	uc011khs.2	nonsynonymous SNV	exon2	c.C235G	p.Q79E	SDQGENVAEINRQVGQKLGLSNGGQ	SDQGENVAEINREVGQKLGLSNGGQ	8.0	9.0	-	-	4095_7:92151454-92151454 G>C_SDQGENVAEINREVGQKLGLSNGGQ
10:93851601-93851601 C>A	1.0	4095	COLON	-	-	-	-	CPEB3	uc001khw.2,p.R558L|uc001khu.2,p.R567L|NM_001178137,p.R544L|uc001khv.2,p.R544L|ENST00000412050,p.R544L|uc010qnn.2,p.R544L|NM_014912,p.R558L|ENST00000265997,p.R558L	protein_coding	uc010qnn.2	nonsynonymous SNV	exon8	c.G1631T	p.R544L	DPRKTIFVGGVPRPLRAVELAMIMD	DPRKTIFVGGVPLPLRAVELAMIMD	6.0	10.0	-	-	4095_10:93851601-93851601 C>A_DPRKTIFVGGVPLPLRAVELAMIMD
22:25566875-25566875 C>T	1.0	4095	COLON	-	-	-	-	KIAA1671	uc003abl.3,p.T47M|ENST00000406486,p.T1540M|NM_001145206,p.T1540M|ENST00000401395,p.T47M|uc003abn.3,p.T1540M|ENST00000358431,p.T1540M	retained_intron, protein_coding	uc003abn.3	nonsynonymous SNV	exon5	c.C4619T	p.T1540M	DTLVHEAGSQYGTWTEQCQSGESLA	DTLVHEAGSQYGMWTEQCQSGESLA	7.0	7.0	-	-	4095_22:25566875-25566875 C>T_DTLVHEAGSQYGMWTEQCQSGESLA
9:33548162-33548162 C>T	1.0	4095	COLON	-	-	-	-	ANKRD18B	NM_001244752,p.S396L|ENST00000290943,p.S397L|uc010mjw.2,p.S396L	retained_intron, protein_coding, processed_transcript	uc010mjw.2	nonsynonymous SNV	exon9	c.C1187T	p.S396L	NEEMITKKVAQYSQQLNDLKAENAR	NEEMITKKVAQYLQQLNDLKAENAR	6.0	9.0	-	-	4095_9:33548162-33548162 C>T_NEEMITKKVAQYLQQLNDLKAENAR
2:179597700-179597700 G>T	0.0	4095	COLON	-	-	-	-	TTN	uc031rqd.1,p.D5084E|NM_133378,p.D4157E|uc002umz.1,p.D818E|ENST00000342992,p.D4157E|ENST00000591111,p.D5084E|NM_001267550,p.D5401E|ENST00000589042,p.D5401E|NM_001256850,p.D5084E|uc021vsy.2,p.D4157E|uc031rqc.1,p.D5401E	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon53	c.C15252A	p.D5084E	SWFKDGKEIAASDRYRIAFVEGTAS	SWFKDGKEIAASERYRIAFVEGTAS	6.0	8.0	-	-	4095_2:179597700-179597700 G>T_SWFKDGKEIAASERYRIAFVEGTAS
3:77645832-77645832 C>A	1.0	4095	COLON	-	-	-	2	ROBO2	ENST00000487694,p.P945T|ENST00000332191,p.P929T|uc003dpz.3,p.P933T|NM_001290040,p.P933T|uc021xat.1,p.P945T|uc003dqa.3,p.P56T|NM_001290039,p.P933T|uc011bgk.2,p.P933T|NM_001290065,p.P336T|uc003dpy.4,p.P929T|ENST00000602589,p.P949T|ENST00000461745,p.P929T|NM_002942,p.P929T|uc011bgj.3,p.P336T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021xat.1	nonsynonymous SNV	exon19	c.C2833A	p.P945T	GDPSYPWLADSWPATSLPVNNSNSG	GDPSYPWLADSWTATSLPVNNSNSG	7.0	9.0	-	-	4095_3:77645832-77645832 C>A_GDPSYPWLADSWTATSLPVNNSNSG
10:49931543-49931543 C>A	0.0	4095	COLON	-	-	-	-	WDFY4	ENST00000325239,p.F174L|uc001jgy.3,p.F174L|ENST00000413659,p.F174L|uc001jha.4,p.F174L|ENST00000360890,p.F174L|NM_020945,p.F174L	protein_coding, processed_transcript	uc001jha.4	nonsynonymous SNV	exon5	c.C522A	p.F174L	GLPALLLQCLYLFFVFPLDKDELLE	GLPALLLQCLYLLFVFPLDKDELLE	7.0	5.0	unscreened	-	4095_10:49931543-49931543 C>A_GLPALLLQCLYLLFVFPLDKDELLE
19:4013176-4013176 G>A	1.0	4095	COLON	-	-	-	-	PIAS4	uc002lzg.3,p.A95T|ENST00000262971,p.A95T|NM_015897,p.A95T	retained_intron, protein_coding, processed_transcript	uc002lzg.3	nonsynonymous SNV	exon2	c.G283A	p.A95T	PLTMHSTYDRAGAVPRTPLAGPNID	PLTMHSTYDRAGTVPRTPLAGPNID	9.0	7.0	-	-	4095_19:4013176-4013176 G>A_PLTMHSTYDRAGTVPRTPLAGPNID
1:186278176-186278176 C>T	1.0	4095	COLON	-	-	-	-	PRG4	ENST00000367485,p.L1016F|NM_005807,p.L1109F|NM_001127709,p.L1016F|ENST00000367483,p.L1068F|ENST00000367484,p.L638F|uc009wyl.3,p.L1016F|ENST00000445192,p.L1109F|NM_001127708,p.L1068F|uc009wym.3,p.L975F|NM_001127710,p.L975F|ENST00000367486,p.L1066F|uc001gru.4,p.L1109F|uc001grt.4,p.L1068F	protein_coding	uc009wym.3	nonsynonymous SNV	exon4	c.C2923T	p.L975F	AGGAEGETPHMLLRPHVFMPEVTPD	AGGAEGETPHMLFRPHVFMPEVTPD	4.0	10.0	-	-	4095_1:186278176-186278176 C>T_AGGAEGETPHMLFRPHVFMPEVTPD
6:152737918-152737918 C>T	0.0	4095	COLON	-	-	-	-	SYNE1	uc003qot.4,p.R1892H|ENST00000367255,p.R1885H|ENST00000423061,p.R1892H|NM_033071,p.R1892H|ENST00000265368,p.R1885H|ENST00000448038,p.R1892H|ENST00000341594,p.R1922H|uc010kjb.1,p.R1868H|NM_182961,p.R1885H|uc003qou.4,p.R1885H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010kjb.1	nonsynonymous SNV	exon39	c.G5603A	p.R1868H	FLQSHASLSGILRQLRQTVEATNSM	FLQSHASLSGILHQLRQTVEATNSM	8.0	2.0	unscreened	-	4095_6:152737918-152737918 C>T_FLQSHASLSGILHQLRQTVEATNSM
16:57562989-57562989 G>T	1.0	4095	COLON	-	-	-	-	CCDC102A	uc002elw.3,p.P34H|NM_033212,p.P34H|ENST00000258214,p.P34H	retained_intron, protein_coding	uc002elw.3	nonsynonymous SNV	exon2	c.C101A	p.P34H	TILGSPSPERMGPADSLPPTPPSGT	TILGSPSPERMGHADSLPPTPPSGT	7.0	7.0	-	-	4095_16:57562989-57562989 G>T_TILGSPSPERMGHADSLPPTPPSGT
19:35823533-35823533 G>A	0.0	4095	COLON	-	-	-	-	CD22	ENST00000598537,p.V40I|ENST00000594349,p.V29I|NM_001185101,p.V40I|ENST00000600424,p.V38I|uc010edv.3,p.V40I|ENST00000597916,p.V38I|ENST00000544992,p.V40I|ENST00000600131,p.V38I|ENST00000085219,p.V40I|uc002nzb.4,p.V40I|ENST00000593867,p.V40I|NM_001185100,p.V40I|ENST00000341773,p.V40I|NM_001185099,p.V40I|ENST00000536635,p.V40I|ENST00000595780,p.V40I|uc010edu.3,p.V40I|uc010edt.3,p.V40I|ENST00000594250,p.V40I|NM_001771,p.V40I|ENST00000599811,p.V40I|ENST00000601769,p.V38I	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010edv.3	nonsynonymous SNV	exon3	c.G118A	p.V40I	HPETLYAWEGACVWIPCTYRALDGD	HPETLYAWEGACIWIPCTYRALDGD	7.0	10.0	-	-	4095_19:35823533-35823533 G>A_HPETLYAWEGACIWIPCTYRALDGD
9:116153893-116153893 T>G	1.0	4095	COLON	-	-	-	-	ALAD	uc011lxf.2,p.K59Q|NM_000031,p.K59Q|ENST00000448137,p.K68Q|ENST00000409155,p.K59Q|uc004bhl.4,p.K88Q	retained_intron, protein_coding, ambiguous_orf	uc011lxf.2	nonsynonymous SNV	exon4	c.A175C	p.K59Q	ITSLPGVARYGVKRLEEMLRPLVEE	ITSLPGVARYGVQRLEEMLRPLVEE	9.0	1.0	unscreened	-	4095_9:116153893-116153893 T>G_ITSLPGVARYGVQRLEEMLRPLVEE
16:56660687-56660687 G>T	0.0	4095	COLON	-	-	-	-	MT1E	ENST00000330439,p.S113I|uc002ejm.3,p.S113I	protein_coding	uc002ejm.3	nonsynonymous SNV	exon2	c.G338T	p.S113I	YGFRTELCQTKKSILWVWVLSSSQA	YGFRTELCQTKKIILWVWVLSSSQA	9.0	1.0	unscreened	-	4095_16:56660687-56660687 G>T_YGFRTELCQTKKIILWVWVLSSSQA
13:113814412-113814412 G>T	0.0	4095	COLON	-	-	-	-	PROZ	uc010agr.2,p.G74V|NM_003891,p.G52V|ENST00000375547,p.G52V|uc001vta.2,p.G52V|NM_001256134,p.G74V|ENST00000342783,p.G74V	protein_coding, processed_transcript	uc010agr.2	nonsynonymous SNV	exon3	c.G221T	p.G74V	RAGSYLLEELFEGNLEKECYEEICV	RAGSYLLEELFEVNLEKECYEEICV	2.0	5.0	unscreened	-	4095_13:113814412-113814412 G>T_RAGSYLLEELFEVNLEKECYEEICV
9:78953283-78953283 G>A	1.0	4095	COLON	-	-	-	-	PCSK5	uc004akc.2,p.R1602H|ENST00000545128,p.R1602H|ENST00000424854,p.R1302H|NM_001190482,p.R1602H	protein_coding	uc004akc.2	nonsynonymous SNV	exon34	c.G4805A	p.R1602H	FFFLLRSKGECHRSCPDHYYVEQST	FFFLLRSKGECHHSCPDHYYVEQST	7.0	7.0	-	-	4095_9:78953283-78953283 G>A_FFFLLRSKGECHHSCPDHYYVEQST
16:81969969-81969969 A>G	1.0	4095	COLON	-	-	-	-	PLCG2	uc002fgt.3,p.N1013S|NM_002661,p.N1013S|ENST00000359376,p.N1013S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002fgt.3	nonsynonymous SNV	exon27	c.A3038G	p.N1013S	RLWLCGSQMVALNFQTADKYMQMNH	RLWLCGSQMVALSFQTADKYMQMNH	8.0	6.0	-	-	4095_16:81969969-81969969 A>G_RLWLCGSQMVALSFQTADKYMQMNH
2:7030312-7030312 C>A	1.0	4095	COLON	-	-	-	-	RSAD2	ENST00000382040,p.F248L|NM_080657,p.F248L|uc002qyp.1,p.F248L|ENST00000541728,p.F141L	retained_intron, protein_coding, processed_transcript	uc002qyp.1	nonsynonymous SNV	exon4	c.C744A	p.F248L	QIKALNPVRWKVFQCLLIEGENCGE	QIKALNPVRWKVLQCLLIEGENCGE	8.0	9.0	-	-	4095_2:7030312-7030312 C>A_QIKALNPVRWKVLQCLLIEGENCGE
21:40969767-40969767 C>A	0.0	4095	COLON	-	-	-	-	B3GALT5-AS1	uc010gok.4,p.R101M|ENST00000380612,p.R101M	protein_coding, processed_transcript	uc010gok.4	nonsynonymous SNV	exon3	c.G302T	p.R101M	WGCWQNSAVWGCRNEVLVSLLAVGQ	WGCWQNSAVWGCMNEVLVSLLAVGQ	5.0	3.0	unscreened	-	4095_21:40969767-40969767 C>A_WGCWQNSAVWGCMNEVLVSLLAVGQ
6:28269597-28269597 G>A	1.0	4095	COLON	-	-	ID=COSM170461;OCCURENCE=1(large_intestine)	-	PGBD1	ENST00000405948,p.E656K|NM_001184743,p.E656K|uc003nkz.3,p.E656K|uc003nky.3,p.E656K|NM_032507,p.E656K|ENST00000259883,p.E656K	protein_coding	uc003nkz.3	nonsynonymous SNV	exon7	c.G1966A	p.E656K	VRATGTIRENRTEKCPLMNVEHMKK	VRATGTIRENRTKKCPLMNVEHMKK	6.0	8.0	-	-	4095_6:28269597-28269597 G>A_VRATGTIRENRTKKCPLMNVEHMKK
4:115544420-115544420 G>T	1.0	4095	COLON	-	-	-	-	UGT8	NM_001128174,p.K128N|NM_003360,p.K128N|uc003ibt.2,p.K128N|uc003ibs.2,p.K128N|ENST00000507710,p.K128N|ENST00000394511,p.K128N|ENST00000310836,p.K128N	protein_coding	uc003ibt.2	nonsynonymous SNV	exon1	c.G384T	p.K128N	LMVGNHALIQGLKKEKFDLLLVDPN	LMVGNHALIQGLNKEKFDLLLVDPN	8.0	8.0	-	-	4095_4:115544420-115544420 G>T_LMVGNHALIQGLNKEKFDLLLVDPN
2:201399770-201399770 C>T	0.0	4095	COLON	-	-	-	-	SGOL2	NM_001160046,p.A62V|ENST00000357799,p.A62V|NM_001160033,p.A62V|NM_152524,p.A62V|uc002uvw.2,p.A62V|ENST00000418045,p.A62V|uc010zhd.1,p.A62V|uc002uvv.4,p.A62V|uc010zhe.1,p.A62V|ENST00000409203,p.A62V	retained_intron, protein_coding, processed_transcript	uc010zhe.1	nonsynonymous SNV	exon3	c.C185T	p.A62V	FKISLKHNNRALAQALSREKENSRR	FKISLKHNNRALVQALSREKENSRR	8.0	1.0	unscreened	-	4095_2:201399770-201399770 C>T_FKISLKHNNRALVQALSREKENSRR
7:6661991-6661991 G>A	1.0	4095	COLON	-	-	-	-	ZNF853	NM_017560,p.V457M|uc011jwz.2,p.V457M|ENST00000457543,p.V457M	protein_coding	uc011jwz.2	nonsynonymous SNV	exon3	c.G1369A	p.V457M	ELMVLPAVAAPAVVAIPGPAGSAAL	ELMVLPAVAAPAMVAIPGPAGSAAL	6.0	10.0	-	-	4095_7:6661991-6661991 G>A_ELMVLPAVAAPAMVAIPGPAGSAAL
2:43451953-43451975 CGCAGCCGCGGCCGCCGCGGAGG>-	0.0	4095	COLON	-	-	-	-	ZFP36L2	NM_006887,p.A323fs|ENST00000282388,p.A323fs|uc002rsv.4,p.A323fs	protein_coding	uc002rsv.4	frameshift deletion	exon2	c.968_990del	p.A323fs	AASTPSGAPTCCASAAAAAAAALLY	AASTPSGAPTCCGRSAVRHRGRRGPAGAGGPVRGLLVGLVRQQRLRLRSGAQQPHHAARHPDPQLCRRGRRRLLPQSAAAAAAGPGAPRAAAGAAQRDPPRRGRRTSLAALQLPAAAPPVRLARVRRAPQPPGLAVGPRQLPKRLPELRQPQRL	10.0	5.0	unscreened	-	4095_2:43451953-43451975 CGCAGCCGCGGCCGCCGCGGAGG>-_AASTPSGAPTCCGRSAVRHRGRRGPAGAGGPVRGLLVGLVRQQRLRLRSGAQQPHHAARHPDPQLCRRGRRRLLPQSAAAAAAGPGAPRAAAGAAQRDPPRRGRRTSLAALQLPAAAPPVRLARVRRAPQPPGLAVGPRQLPKRLPELRQPQRL
8:131796010-131796010 G>T	0.0	4095	COLON	-	-	-	-	ADCY8	ENST00000286355,p.D1065E|uc003ytd.4,p.D1065E|ENST00000377928,p.D934E|NM_001115,p.D1065E|uc010mds.3,p.D934E	protein_coding	uc010mds.3	nonsynonymous SNV	exon14	c.C2802A	p.D934E	CEDKWGHLCALADFSLALTESIQEI	CEDKWGHLCALAEFSLALTESIQEI	3.0	1.0	unscreened	-	4095_8:131796010-131796010 G>T_CEDKWGHLCALAEFSLALTESIQEI
2:179400088-179400088 A>C	0.0	4095	COLON	-	-	-	-	TTN	NM_133432,p.L24812V|NM_001256850,p.L32111V|ENST00000591111,p.L32111V|uc021vta.2,p.L24812V|uc031rqc.1,p.L33752V|ENST00000359218,p.L24812V|uc021vsy.2,p.L31184V|uc031rqd.1,p.L32111V|NM_133437,p.L24879V|uc021vsz.2,p.L24879V|NM_133378,p.L31184V|uc021vtb.2,p.L24687V|NM_003319,p.L24687V|NM_001267550,p.L33752V|ENST00000460472,p.L24687V|ENST00000342992,p.L31184V|ENST00000342175,p.L24879V	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon308	c.T96331G	p.L32111V	GQARETRYTVINLFGKTSYQFRVIA	GQARETRYTVINVFGKTSYQFRVIA	6.0	4.0	unscreened	-	4095_2:179400088-179400088 A>C_GQARETRYTVINVFGKTSYQFRVIA
2:85872094-85872094 T>C	1.0	4095	COLON	-	-	-	-	USP39	uc010ysu.3,p.L406S|NM_001256725,p.L484S|ENST00000409470,p.L484S|ENST00000450066,p.L381S|NM_006590,p.L484S|uc002sqb.4,p.L215S|ENST00000323701,p.L484S|NM_001256727,p.L406S|NM_001256728,p.L381S|uc002sqg.4,p.L484S|uc010ysv.3,p.L381S|ENST00000409025,p.L484S|uc010fgn.2,p.L484S|uc002sqe.4,p.L484S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010ysv.3	nonsynonymous SNV	exon10	c.T1142C	p.L381S	NFPITNVDLREYLSEEVQAVHKNTT	NFPITNVDLREYSSEEVQAVHKNTT	9.0	8.0	-	-	4095_2:85872094-85872094 T>C_NFPITNVDLREYSSEEVQAVHKNTT
9:116153893-116153893 T>G	1.0	4095	COLON	-	-	-	-	ALAD	uc011lxe.2,p.K42Q|ENST00000277315,p.K42Q	retained_intron, protein_coding, ambiguous_orf	uc011lxe.2	nonsynonymous SNV	exon3	c.A124C	p.K42Q	NLIYPIFVTYGVKRLEEMLRPLVEE	NLIYPIFVTYGVQRLEEMLRPLVEE	9.0	1.0	unscreened	-	4095_9:116153893-116153893 T>G_NLIYPIFVTYGVQRLEEMLRPLVEE
1:145487372-145487372 G>T	1.0	4095	COLON	-	-	-	-	LIX1L	ENST00000369308,p.G121W|NM_153713,p.G121W|uc001enr.3,p.G121W	protein_coding	uc001enr.3	nonsynonymous SNV	exon2	c.G361T	p.G121W	QMKQSRGADLKNGALVVYEMVPSNS	QMKQSRGADLKNWALVVYEMVPSNS	8.0	6.0	-	-	4095_1:145487372-145487372 G>T_QMKQSRGADLKNWALVVYEMVPSNS
11:58979931-58979931 C>A	0.0	4095	COLON	-	-	-	-	MPEG1	NM_001039396,p.M136I|ENST00000361050,p.M136I|uc001nnu.4,p.M136I	protein_coding	uc001nnu.4	nonsynonymous SNV	exon1	c.G408T	p.M136I	KVNGKFSTEFQRMKTLQVKDQAITT	KVNGKFSTEFQRIKTLQVKDQAITT	8.0	4.0	unscreened	-	4095_11:58979931-58979931 C>A_KVNGKFSTEFQRIKTLQVKDQAITT
5:167857154-167857154 G>T	1.0	4095	COLON	-	-	-	-	WWC1	ENST00000521089,p.K671N|uc011den.2,p.K671N|uc003lzu.3,p.K671N|ENST00000265293,p.K671N|uc003lzv.3,p.K671N|NM_001161662,p.K671N|NM_001161661,p.K671N|uc003lzw.3,p.K470N|NM_015238,p.K671N	retained_intron, protein_coding, processed_transcript, TEC	uc011den.2	nonsynonymous SNV	exon14	c.G2013T	p.K671N	ATRIQIALKYDEKNKQFAILIIQLS	ATRIQIALKYDENNKQFAILIIQLS	8.0	8.0	-	-	4095_5:167857154-167857154 G>T_ATRIQIALKYDENNKQFAILIIQLS
19:17644435-17644435 C>A	0.0	4095	COLON	-	-	-	-	FAM129C	ENST00000352727,p.L149M|NM_001098524,p.L149M|ENST00000599164,p.L118M|ENST00000595684,p.L149M|ENST00000335393,p.L149M|ENST00000600871,p.L95M|uc010xps.2,p.L118M|uc021uqi.1,p.L149M|ENST00000601861,p.L118M|NM_173544,p.L149M|ENST00000600519,p.L118M|uc021uqj.1,p.L149M|ENST00000599124,p.L118M|ENST00000332386,p.L149M|ENST00000300971,p.L149M	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021uqj.1	nonsynonymous SNV	exon5	c.C445A	p.L149M	YENGGHCLGSTALTGYTLLTSQREY	YENGGHCLGSTAMTGYTLLTSQREY	6.0	3.0	unscreened	-	4095_19:17644435-17644435 C>A_YENGGHCLGSTAMTGYTLLTSQREY
9:37746714-37746714 C>T	0.0	4095	COLON	-	-	-	-	FRMPD1	ENST00000377765,p.T1562M|ENST00000539465,p.T1562M|uc004aah.1,p.T1562M|NM_014907,p.T1562M|uc004aag.1,p.T1562M	protein_coding	uc004aah.1	nonsynonymous SNV	exon16	c.C4685T	p.T1562M	SVKLLARQCTALTAAVFCLTQKFRA	SVKLLARQCTALMAAVFCLTQKFRA	5.0	9.0	-	-	4095_9:37746714-37746714 C>T_SVKLLARQCTALMAAVFCLTQKFRA
11:61665807-61665807 C>A	0.0	4095	COLON	-	-	-	-	RAB3IL1	NM_013401,p.M364I|ENST00000301773,p.M338I|uc001nsp.4,p.M338I|NM_001271686,p.M338I|ENST00000394836,p.M364I|uc001nso.4,p.M364I	retained_intron, protein_coding	uc001nsp.4	nonsynonymous SNV	exon9	c.G1014T	p.M338I	VRQDAEPMFWEIMRLRKEMSLAKLG	VRQDAEPMFWEIIRLRKEMSLAKLG	6.0	2.0	unscreened	-	4095_11:61665807-61665807 C>A_VRQDAEPMFWEIIRLRKEMSLAKLG
4:126373517-126373517 C>A	0.0	4095	COLON	-	-	-	1	FAT4	uc003ifi.1,p.F1260L|NM_001291285,p.F3784L|NM_001291303,p.F3784L|uc011cgp.2,p.F2080L|uc003ifj.4,p.F3782L|ENST00000394329,p.F3782L|NM_024582,p.F3782L|ENST00000335110,p.F2080L	retained_intron, protein_coding	uc011cgp.2	nonsynonymous SNV	exon9	c.C6240A	p.F2080L	HNQYVNPSGVATFFESIKEILLRQS	HNQYVNPSGVATLFESIKEILLRQS	5.0	1.0	unscreened	-	4095_4:126373517-126373517 C>A_HNQYVNPSGVATLFESIKEILLRQS
6:64394821-64394821 G>T	1.0	4095	COLON	-	-	-	-	PHF3	ENST00000494284,p.G353C|ENST00000506783,p.G214C|uc003pem.2,p.G353C|NM_015153,p.G400C|uc003pep.1,p.G400C|uc003peo.3,p.G400C|NM_001290260,p.G400C|uc003pen.2,p.G312C|uc010kag.1,p.G312C|ENST00000393387,p.G400C|uc010kaf.1,p.G400C|ENST00000509330,p.G400C|ENST00000481385,p.G312C|ENST00000262043,p.G400C|uc010kah.1,p.G214C|NM_001290259,p.G312C	protein_coding, processed_transcript, nonsense_mediated_decay	uc010kah.1	nonsynonymous SNV	exon2	c.G640T	p.G214C	ENTLERNKIEPLGYCEDAESNRQLE	ENTLERNKIEPLCYCEDAESNRQLE	9.0	4.0	unscreened	-	4095_6:64394821-64394821 G>T_ENTLERNKIEPLCYCEDAESNRQLE
19:57050485-57050485 T>C	1.0	4095	COLON	-	-	-	-	ZFP28	uc002qni.3,p.V33A|ENST00000301318,p.V33A|NM_020828,p.V33A|ENST00000591844,p.V33A|uc002qnj.3,p.V33A	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002qnj.3	nonsynonymous SNV	exon1	c.T98C	p.V33A	PRTKPRAGRGPTVGTPATLALPARG	PRTKPRAGRGPTAGTPATLALPARG	6.0	4.0	unscreened	-	4095_19:57050485-57050485 T>C_PRTKPRAGRGPTAGTPATLALPARG
1:158687050-158687050 G>T	0.0	4095	COLON	-	-	-	-	OR6K3	uc021pbn.1,p.P286T|ENST00000368145,p.P286T|NM_001005327,p.P286T|ENST00000368146,p.P302T	protein_coding	uc021pbn.1	nonsynonymous SNV	exon1	c.C856A	p.P286T	ALMFTVLAPFFNPIIYSLRNKDMNN	ALMFTVLAPFFNTIIYSLRNKDMNN	2.0	3.0	unscreened	-	4095_1:158687050-158687050 G>T_ALMFTVLAPFFNTIIYSLRNKDMNN
6:2765890-2765890 C>A	1.0	4095	COLON	-	-	-	-	WRNIP1	uc003mua.3,p.L12I|ENST00000380773,p.L12I|NM_020135,p.L12I|uc003mtz.3,p.L12I|NM_130395,p.L12I|ENST00000380771,p.L12I	protein_coding	uc003mua.3	nonsynonymous SNV	exon1	c.C34A	p.L12I	MEVSGPEDDPFLSQLHQVQCPVCQ	MEVSGPEDDPFISQLHQVQCPVCQ	9.0	9.0	-	-	4095_6:2765890-2765890 C>A_MEVSGPEDDPFISQLHQVQCPVCQ
7:127670254-127670254 G>T	0.0	4095	COLON	-	-	-	-	LRRC4	ENST00000494115,p.S65Y|uc003vmk.3,p.S147Y|NM_022143,p.S147Y|ENST00000249363,p.S147Y|uc022akv.1,p.S147Y	protein_coding	uc022akv.1	nonsynonymous SNV	exon1	c.C440A	p.S147Y	LTVIPSGAFEYLSKLRELWLRNNPI	LTVIPSGAFEYLYKLRELWLRNNPI	5.0	7.0	-	-	4095_7:127670254-127670254 G>T_LTVIPSGAFEYLYKLRELWLRNNPI
12:57033811-57033811 C>A	1.0	4095	COLON	-	-	-	-	ATP5B	ENST00000552104,p.G117C|ENST00000262030,p.G414C|uc001slr.3,p.G414C|ENST00000552919,p.G403C|NM_001686,p.G414C	protein_coding, processed_transcript	uc001slr.3	nonsynonymous SNV	exon8	c.G1240T	p.G414C	DSTSRIMDPNIVGSEHYDVARGVQK	DSTSRIMDPNIVCSEHYDVARGVQK	10.0	1.0	unscreened	-	4095_12:57033811-57033811 C>A_DSTSRIMDPNIVCSEHYDVARGVQK
15:45399649-45399649 C>A	1.0	4095	COLON	-	-	-	-	DUOX2	uc001zun.3,p.K529N|ENST00000389039,p.K529N|ENST00000603300,p.K529N|uc010bea.3,p.K529N|NM_014080,p.K529N	retained_intron, protein_coding	uc010bea.3	nonsynonymous SNV	exon14	c.G1587T	p.K529N	YWFENTRNGLFSKKEIEDIRNTTLR	YWFENTRNGLFSNKEIEDIRNTTLR	8.0	1.0	-	-	4095_15:45399649-45399649 C>A_YWFENTRNGLFSNKEIEDIRNTTLR
X:51638405-51638405 A>T	0.0	4095	COLON	-	-	-	-	MAGED1	uc004dpn.3,p.K157M|ENST00000375772,p.K101M|NM_001005333,p.K157M|ENST00000375695,p.K157M|NM_006986,p.K101M|ENST00000375722,p.K101M|NM_001005332,p.K101M|ENST00000326587,p.K101M|uc004dpo.3,p.K101M|uc004dpm.3,p.K101M	protein_coding, processed_transcript	uc004dpo.3	nonsynonymous SNV	exon3	c.A302T	p.K101M	NGVYDFSQAHNAKDVPNTQPKAAFK	NGVYDFSQAHNAMDVPNTQPKAAFK	10.0	4.0	unscreened	-	4095_X:51638405-51638405 A>T_NGVYDFSQAHNAMDVPNTQPKAAFK
13:102047611-102047611 A>T	0.0	4095	COLON	-	-	-	-	NALCN	uc001vox.1,p.F72I|NM_052867,p.F72I|ENST00000376196,p.F72I|uc001voz.2,p.F72I|ENST00000376200,p.F72I|uc001vpa.2,p.F72I|ENST00000251127,p.F72I	retained_intron, protein_coding, processed_transcript	uc001vpa.2	nonsynonymous SNV	exon3	c.T214A	p.F72I	TFEHYPPLQYVTFTLDTLLMFLYTA	TFEHYPPLQYVTITLDTLLMFLYTA	5.0	2.0	unscreened	-	4095_13:102047611-102047611 A>T_TFEHYPPLQYVTITLDTLLMFLYTA
X:3261730-3261730 C>T	0.0	4095	COLON	-	-	-	-	MXRA5	uc004crg.4,p.V49M|NM_015419,p.V49M|ENST00000217939,p.V49M	protein_coding	uc004crg.4	nonsynonymous SNV	exon2	c.G145A	p.V49M	SEVHCTFRSLASVPAGIAKHVERIN	SEVHCTFRSLASMPAGIAKHVERIN	6.0	7.0	-	-	4095_X:3261730-3261730 C>T_SEVHCTFRSLASMPAGIAKHVERIN
11:61665807-61665807 C>A	0.0	4095	COLON	-	-	-	-	RAB3IL1	ENST00000526200,p.M47I	retained_intron, protein_coding	ENST00000526200	nonsynonymous SNV	exon3	c.G141T	p.M47I	PDPLTEPMFWEIMRLRKEMSLAKLG	PDPLTEPMFWEIIRLRKEMSLAKLG	6.0	2.0	unscreened	-	4095_11:61665807-61665807 C>A_PDPLTEPMFWEIIRLRKEMSLAKLG
13:73636662-73636662 C>G	1.0	4095	COLON	-	-	-	-	KLF5	uc001vje.3,p.P309A|ENST00000377687,p.P309A|NM_001286818,p.P218A|NM_001730,p.P309A|uc001vjd.3,p.P218A|ENST00000539231,p.P218A	protein_coding, processed_transcript	uc001vje.3	nonsynonymous SNV	exon2	c.C925G	p.P309A	ATYFPPSPPSSEPGSPDRQAEMLQN	ATYFPPSPPSSEAGSPDRQAEMLQN	10.0	10.0	-	-	4095_13:73636662-73636662 C>G_ATYFPPSPPSSEAGSPDRQAEMLQN
3:3887268-3887268 A>T	1.0	4095	COLON	-	-	-	-	LRRN1	NM_020873,p.T315S|uc003bpt.4,p.T315S|uc021wsh.1,p.T315S|ENST00000319331,p.T315S	retained_intron, protein_coding, processed_transcript	uc021wsh.1	nonsynonymous SNV	exon1	c.A943T	p.T315S	VDRYALDNLPELTKLEATNNPKLSY	VDRYALDNLPELSKLEATNNPKLSY	5.0	2.0	unscreened	-	4095_3:3887268-3887268 A>T_VDRYALDNLPELSKLEATNNPKLSY
19:50662826-50662826 G>T	0.0	4095	COLON	-	-	-	-	IZUMO2	ENST00000293405,p.L107M|NM_152358,p.L107M|uc002prp.1,p.L107M	protein_coding, nonsense_mediated_decay	uc002prp.1	nonsynonymous SNV	exon3	c.C319A	p.L107M	HLMGNSLKDEPLLEELVTLRANVIK	HLMGNSLKDEPLMEELVTLRANVIK	5.0	3.0	unscreened	-	4095_19:50662826-50662826 G>T_HLMGNSLKDEPLMEELVTLRANVIK
2:37289169-37289169 G>T	1.0	4095	COLON	-	-	-	-	HEATR5B	ENST00000354531,p.L537I|ENST00000233099,p.L537I|uc002rpp.1,p.L537I|NM_019024,p.L537I	retained_intron, protein_coding	uc002rpp.1	nonsynonymous SNV	exon11	c.C1609A	p.L537I	AKGKMVVSIAEDLLRTAAQNSRLSL	AKGKMVVSIAEDILRTAAQNSRLSL	7.0	1.0	unscreened	-	4095_2:37289169-37289169 G>T_AKGKMVVSIAEDILRTAAQNSRLSL
7:150649765-150649765 C>A	1.0	4095	COLON	-	-	-	-	KCNH2	ENST00000262186,p.E435D|ENST00000330883,p.E95D|uc003wic.3,p.E435D|ENST00000430723,p.E435D|uc003wib.3,p.E95D|NM_172057,p.E95D|uc011kux.2,p.E339D|uc003wid.3,p.E95D|uc003wie.3,p.E435D|NM_000238,p.E435D|NM_172056,p.E435D|ENST00000392968,p.E339D|NM_001204798,p.E95D	retained_intron, protein_coding	uc011kux.2	nonsynonymous SNV	exon4	c.G1017T	p.E339D	VFTPYSAAFLLKETEEGPPATECGY	VFTPYSAAFLLKDTEEGPPATECGY	6.0	9.0	-	-	4095_7:150649765-150649765 C>A_VFTPYSAAFLLKDTEEGPPATECGY
19:10472508-10472508 G>A	1.0	4095	COLON	-	-	ID=COSM1231470;OCCURENCE=1(large_intestine)	-	TYK2	uc002moc.4,p.R633C|ENST00000529370,p.R633C|ENST00000524462,p.R448C|ENST00000525621,p.R633C|uc002mod.2,p.R633C|uc010dxe.3,p.R448C|ENST00000264818,p.R633C|NM_003331,p.R633C	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010dxe.3	nonsynonymous SNV	exon9	c.C1342T	p.R448C	MDDEDPLVPGRDRGQELRVVLKVLD	MDDEDPLVPGRDCGQELRVVLKVLD	10.0	10.0	-	-	4095_19:10472508-10472508 G>A_MDDEDPLVPGRDCGQELRVVLKVLD
4:89192303-89192303 C>T	0.0	4095	COLON	-	-	-	-	PPM1K	uc010ikp.2,p.V194M|ENST00000315194,p.V194M|ENST00000506423,p.V194M	retained_intron, protein_coding, processed_transcript	uc010ikp.2	nonsynonymous SNV	exon4	c.G580A	p.V194M	NCAWSAALDLEPVDTICGASVEREI	NCAWSAALDLEPMDTICGASVEREI	8.0	10.0	-	-	4095_4:89192303-89192303 C>T_NCAWSAALDLEPMDTICGASVEREI
4:9784402-9784402 G>A	0.0	4095	COLON	-	-	-	-	DRD5	ENST00000304374,p.R250H|NM_000798,p.R250H|uc003gmb.4,p.R250H	protein_coding	uc003gmb.4	nonsynonymous SNV	exon1	c.G749A	p.R250H	VAIMIVTYTRIYRIAQVQIRRISSL	VAIMIVTYTRIYHIAQVQIRRISSL	1.0	1.0	unscreened	-	4095_4:9784402-9784402 G>A_VAIMIVTYTRIYHIAQVQIRRISSL
7:44149623-44149623 C>G	0.0	4095	COLON	-	-	-	-	AEBP1	ENST00000223357,p.P387R|uc003tkb.4,p.P387R|NM_001129,p.P387R	protein_coding, processed_transcript, nonsense_mediated_decay	uc003tkb.4	nonsynonymous SNV	exon10	c.C1160G	p.P387R	EEWTPTEKVKCPPIGMESHRIEDNQ	EEWTPTEKVKCPRIGMESHRIEDNQ	9.0	6.0	-	-	4095_7:44149623-44149623 C>G_EEWTPTEKVKCPRIGMESHRIEDNQ
9:136582490-136582490 C>T	0.0	4095	COLON	-	-	ID=COSM377319;OCCURENCE=1(lung)	-	SARDH	NM_007101,p.V370M|uc011mdo.2,p.V202M|ENST00000371872,p.V370M|ENST00000427237,p.V370M|uc004cep.4,p.V370M|uc011mdn.2,p.V370M|ENST00000439388,p.V370M|uc004ceo.3,p.V370M|ENST00000422262,p.V202M|NM_001134707,p.V370M	protein_coding, processed_transcript	uc011mdo.2	nonsynonymous SNV	exon7	c.G604A	p.V202M	TQHIEGAINRVPVLEKTGIKSTVCG	TQHIEGAINRVPMLEKTGIKSTVCG	5.0	5.0	unscreened	-	4095_9:136582490-136582490 C>T_TQHIEGAINRVPMLEKTGIKSTVCG
1:159900124-159900124 A>C	0.0	4095	COLON	-	-	-	-	IGSF9	ENST00000361509,p.L624R|uc001fuq.2,p.L624R|NM_001135050,p.L640R|uc001fur.2,p.L640R|NM_020789,p.L624R|ENST00000368094,p.L640R	protein_coding, processed_transcript	uc001fur.2	nonsynonymous SNV	exon15	c.T1919G	p.L640R	RGLVAVRTPRGVLLHWDPPELVPKR	RGLVAVRTPRGVRLHWDPPELVPKR	4.0	1.0	unscreened	-	4095_1:159900124-159900124 A>C_RGLVAVRTPRGVRLHWDPPELVPKR
7:150738297-150738297 A>T	0.0	4095	COLON	-	-	-	-	ABCB8	uc003wim.4,p.Q327L|uc003wil.4,p.Q549L|uc010lpx.3,p.Q532L|uc011kvd.2,p.Q444L|NM_007188,p.Q532L|NM_001282291,p.Q549L|NM_001282293,p.Q444L|ENST00000498578,p.Q532L|ENST00000297504,p.Q549L|NM_001282292,p.Q532L|ENST00000358849,p.Q532L|uc003wik.4,p.Q532L|ENST00000542328,p.Q444L	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc011kvd.2	nonsynonymous SNV	exon12	c.A1331T	p.Q444L	DLRTLDPSWLRGQVVGFISQEPVLF	DLRTLDPSWLRGLVVGFISQEPVLF	8.0	3.0	unscreened	-	4095_7:150738297-150738297 A>T_DLRTLDPSWLRGLVVGFISQEPVLF
7:78636418-78636418 G>A	0.0	4095	COLON	-	-	ID=COSM1257168;OCCURENCE=1(oesophagus)	-	MAGI2	NM_001301128,p.R136C|ENST00000522391,p.R136C|NM_012301,p.R136C|uc003ugy.3,p.R136C|ENST00000354212,p.R136C|uc003ugx.3,p.R136C|ENST00000419488,p.R136C	retained_intron, protein_coding, processed_transcript	uc003ugy.3	nonsynonymous SNV	exon2	c.C406T	p.R136C	ELQQIIRDNLYLRTVPCTTRPHKEG	ELQQIIRDNLYLCTVPCTTRPHKEG	6.0	8.0	-	-	4095_7:78636418-78636418 G>A_ELQQIIRDNLYLCTVPCTTRPHKEG
14:73976054-73976054 G>T	0.0	4095	COLON	-	-	-	-	HEATR4	uc010tub.1,p.P561H|NM_203309,p.P561H|ENST00000560393,p.P514H|ENST00000334988,p.P561H|ENST00000553558,p.P561H|uc021rwe.1,p.P561H|uc021rwf.2,p.P561H|NM_001220484,p.P561H	protein_coding, processed_transcript	uc021rwf.2	nonsynonymous SNV	exon7	c.C1682A	p.P561H	AAICQYAIQSHNPLARNIMQTALLK	AAICQYAIQSHNHLARNIMQTALLK	3.0	2.0	unscreened	-	4095_14:73976054-73976054 G>T_AAICQYAIQSHNHLARNIMQTALLK
11:67372282-67372282 G>A	0.0	4095	COLON	-	-	-	-	GSTP1,NDUFV1	ENST00000446232,p.L87F|uc001omi.1,p.L87F|ENST00000333139,p.L87F	protein_coding	uc001omi.1	nonsynonymous SNV	exon2	c.C259T	p.L87F	ASRPQAKRYQGLLPVPLAPHPLCLS	ASRPQAKRYQGLFPVPLAPHPLCLS	2.0	1.0	unscreened	-	4095_11:67372282-67372282 G>A_ASRPQAKRYQGLFPVPLAPHPLCLS
12:129559153-129559153 G>A	0.0	4095	COLON	-	-	-	-	TMEM132D	uc001uia.2,p.T394M|NM_133448,p.T856M|uc009zyl.1,p.T856M|ENST00000389441,p.T394M|ENST00000422113,p.T856M	protein_coding	uc009zyl.1	nonsynonymous SNV	exon9	c.C2567T	p.T856M	SSSMGLMEGRGTTTDRSILQKKKGQ	SSSMGLMEGRGTMTDRSILQKKKGQ	2.0	9.0	-	-	4095_12:129559153-129559153 G>A_SSSMGLMEGRGTMTDRSILQKKKGQ
10:123844044-123844044 G>A	1.0	4095	COLON	0.0005	-	-	-	TACC2	uc009xzx.3,p.A677T|ENST00000515273,p.A677T|uc001lfv.3,p.A677T|uc010qtv.2,p.A677T|ENST00000369005,p.A677T|NM_001291876,p.A677T|NM_001291877,p.A677T|ENST00000453444,p.A677T|ENST00000334433,p.A677T|NM_206862,p.A677T|ENST00000515603,p.A677T	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010qtv.2	nonsynonymous SNV	exon4	c.G2029A	p.A677T	EEDPVLPPVPDGAGEPTVPEGAIWE	EEDPVLPPVPDGTGEPTVPEGAIWE	9.0	8.0	-	-	4095_10:123844044-123844044 G>A_EEDPVLPPVPDGTGEPTVPEGAIWE
2:179605004-179605004 G>A	0.0	4095	COLON	-	-	-	-	TTN	NM_133432,p.A4081V|NM_133437,p.A4148V|NM_001267550,p.A4319V|uc021vta.2,p.A4081V|ENST00000359218,p.A4081V|ENST00000342175,p.A4148V|ENST00000589042,p.A4319V|uc021vtb.2,p.A3956V|uc021vsz.2,p.A4148V|ENST00000591111,p.A4002V|uc031rqc.1,p.A4319V|ENST00000460472,p.A3956V|NM_003319,p.A3956V|uc031rqd.1,p.A4002V|NM_001256850,p.A4002V	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon46	c.C12005T	p.A4002V	SANPLENAGQDSAVRIEEGKSLRFP	SANPLENAGQDSVVRIEEGKSLRFP	6.0	2.0	unscreened	-	4095_2:179605004-179605004 G>A_SANPLENAGQDSVVRIEEGKSLRFP
14:42360614-42360614 G>A	0.0	4095	COLON	-	-	-	-	LRFN5	uc001wvm.3,p.R516H|ENST00000298119,p.R516H|NM_152447,p.R516H	protein_coding, processed_transcript	uc001wvm.3	nonsynonymous SNV	exon4	c.G1547A	p.R516H	GCIQFTTEQDYVRCHFMQSQFLGGT	GCIQFTTEQDYVHCHFMQSQFLGGT	4.0	9.0	-	-	4095_14:42360614-42360614 G>A_GCIQFTTEQDYVHCHFMQSQFLGGT
19:11411965-11411965 G>T	0.0	4095	COLON	-	-	-	-	TSPAN16	NM_001282510,p.W119L|NM_001282509,p.W144L|ENST00000592955,p.W119L|uc002mqv.1,p.W144L|ENST00000316737,p.W144L|NM_012466,p.W144L|ENST00000590327,p.W144L	protein_coding, nonsense_mediated_decay	uc002mqv.1	nonsynonymous SNV	exon4	c.G431T	p.W144L	RGYNEPDDYSTQWNLVMEKLKCCGV	RGYNEPDDYSTQLNLVMEKLKCCGV	4.0	5.0	unscreened	-	4095_19:11411965-11411965 G>T_RGYNEPDDYSTQLNLVMEKLKCCGV
19:11411965-11411965 G>T	0.0	4095	COLON	-	-	-	-	TSPAN16	ENST00000337994,p.W144L	protein_coding, nonsense_mediated_decay	ENST00000337994	nonsynonymous SNV	exon4	c.G431T	p.W144L	RGYNEPDDYSTQWNLVMEKGLSKYF	RGYNEPDDYSTQLNLVMEKGLSKYF	4.0	5.0	unscreened	-	4095_19:11411965-11411965 G>T_RGYNEPDDYSTQLNLVMEKGLSKYF
6:100395683-100395683 T>G	0.0	4095	COLON	-	-	-	-	MCHR2	NM_001040179,p.N116T|uc003pqi.1,p.N116T|NM_032503,p.N116T|ENST00000281806,p.N116T|uc003pqh.1,p.N116T|ENST00000369212,p.N116T|ENST00000445970,p.N116T	protein_coding	uc003pqi.1	nonsynonymous SNV	exon3	c.A347C	p.N116T	PLCTIITSLDTCNQFACSAIMTVMS	PLCTIITSLDTCTQFACSAIMTVMS	2.0	10.0	-	-	4095_6:100395683-100395683 T>G_PLCTIITSLDTCTQFACSAIMTVMS
19:5208016-5208016 G>A	0.0	4095	COLON	-	-	-	-	PTPRS	ENST00000262963,p.R1879W|ENST00000587303,p.R1899W|NM_130853,p.R1452W|ENST00000588012,p.R1861W|uc010xin.2,p.R1441W|ENST00000348075,p.R1861W|NM_130854,p.R1861W|uc002mby.3,p.R1452W|uc002mbx.3,p.R1456W|uc002mbu.1,p.R1468W|ENST00000357368,p.R1899W|uc002mbv.3,p.R1899W|ENST00000353284,p.R1452W|NM_002850,p.R1899W|ENST00000372412,p.R1900W|NM_130855,p.R1456W|uc002mbw.3,p.R1861W|ENST00000592099,p.R1452W	retained_intron, protein_coding, processed_transcript	uc010xin.2	nonsynonymous SNV	exon27	c.C4321T	p.R1441W	TGVFITLSIVLERMRYEGVVDIFQT	TGVFITLSIVLEWMRYEGVVDIFQT	6.0	6.0	unscreened	-	4095_19:5208016-5208016 G>A_TGVFITLSIVLEWMRYEGVVDIFQT
9:135277664-135277664 C>T	1.0	4095	COLON	-	-	-	-	TTF1	NM_007344,p.R182Q|uc004cbl.3,p.R182Q|ENST00000334270,p.R182Q	protein_coding, processed_transcript	uc004cbl.3	nonsynonymous SNV	exon2	c.G545A	p.R182Q	KHQRKAASWESQRARDTLPQSESHQ	KHQRKAASWESQQARDTLPQSESHQ	8.0	5.0	unscreened	-	4095_9:135277664-135277664 C>T_KHQRKAASWESQQARDTLPQSESHQ
22:43610235-43610235 G>T	0.0	4095	COLON	-	-	-	-	SCUBE1	NM_173050,p.H638Q|ENST00000360835,p.H638Q|uc003bdt.2,p.H638Q	protein_coding, processed_transcript	uc003bdt.2	nonsynonymous SNV	exon16	c.C1914A	p.H638Q	QDSKCVACGPGTHFGGELGQCVSCM	QDSKCVACGPGTQFGGELGQCVSCM	3.0	1.0	unscreened	-	4095_22:43610235-43610235 G>T_QDSKCVACGPGTQFGGELGQCVSCM
14:92040813-92040813 T>G	0.0	4095	COLON	-	-	-	-	SMEK1,CATSPERB	uc010aua.3,p.E48D|ENST00000596306,p.E48D	protein_coding	uc010aua.3	nonsynonymous SNV	exon1	c.A144C	p.E48D	LERALPRVVGEQELGSWRERANSTP	LERALPRVVGEQDLGSWRERANSTP	5.0	3.0	unscreened	-	4095_14:92040813-92040813 T>G_LERALPRVVGEQDLGSWRERANSTP
20:23545624-23545624 G>C	0.0	4095	COLON	-	-	-	-	CST9L	NM_080610,p.F135L|uc002wtk.4,p.F135L|ENST00000376979,p.F135L	protein_coding	uc002wtk.4	nonsynonymous SNV	exon3	c.C405G	p.F135L	FFTISTRPWMTQFSLLNKTCLEGFH	FFTISTRPWMTQLSLLNKTCLEGFH	1.0	6.0	-	-	4095_20:23545624-23545624 G>C_FFTISTRPWMTQLSLLNKTCLEGFH
19:58570640-58570640 G>A	0.0	4095	COLON	-	-	-	-	ZNF135	ENST00000401053,p.G11S|uc002qrg.3,p.G11S|NM_001164527,p.G11S|uc021vcu.1,p.G11S|uc002qrd.2,p.G11S|uc021vct.1,p.G11S|NM_007134,p.G11S|NM_001164529,p.G11S|ENST00000359978,p.G11S|NM_001164530,p.G11S	protein_coding, nonsense_mediated_decay	uc021vcu.1	nonsynonymous SNV	exon1	c.G31A	p.G11S	MELGSRRRSVGCRCRGLCLAVRR	MELGSRRRSVSCRCRGLCLAVRR	5.0	10.0	unscreened	-	4095_19:58570640-58570640 G>A_MELGSRRRSVSCRCRGLCLAVRR
19:15510221-15510221 C>T	1.0	4095	COLON	-	-	-	-	AKAP8L	NM_001291478,p.G289E|uc010xoh.1,p.G289E|uc002naw.1,p.G350E|NM_014371,p.G350E|ENST00000397410,p.G350E|ENST00000595465,p.G289E	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc010xoh.1	nonsynonymous SNV	exon9	c.G866A	p.G289E	DGREEGKEDPEKGALTTQDENGQTK	DGREEGKEDPEKEALTTQDENGQTK	9.0	2.0	unscreened	-	4095_19:15510221-15510221 C>T_DGREEGKEDPEKEALTTQDENGQTK
X:44108158-44108158 C>T	0.0	4095	COLON	-	-	-	-	EFHC2	NM_025184,p.C288Y|ENST00000420999,p.C288Y|uc004dgb.4,p.C288Y	protein_coding	uc004dgb.4	nonsynonymous SNV	exon6	c.G863A	p.C288Y	KMFLRRSKLPKNCPPRVYQPGQITD	KMFLRRSKLPKNYPPRVYQPGQITD	5.0	2.0	unscreened	-	4095_X:44108158-44108158 C>T_KMFLRRSKLPKNYPPRVYQPGQITD
1:154680517-154680517 C>A	1.0	4095	COLON	-	-	-	-	KCNN3	uc031ppq.1,p.D398Y|uc001ffp.3,p.D711Y|NM_001204087,p.D726Y|NM_170782,p.D406Y|ENST00000358505,p.D398Y|uc001ffo.3,p.D406Y|ENST00000271915,p.D711Y|NM_002249,p.D711Y|ENST00000361147,p.D406Y|uc021pah.1,p.D726Y	protein_coding	uc031ppq.1	nonsynonymous SNV	exon8	c.G1192T	p.D398Y	SVAVGTTHTPISDSPIGVSSTSFPT	SVAVGTTHTPISYSPIGVSSTSFPT	6.0	6.0	-	-	4095_1:154680517-154680517 C>A_SVAVGTTHTPISYSPIGVSSTSFPT
14:65263283-65263283 C>T	0.0	4095	COLON	-	-	-	-	SPTB	ENST00000542895,p.V445M|ENST00000389721,p.V445M|ENST00000389720,p.V445M|ENST00000556626,p.V445M|NM_000347,p.V445M|NM_001024858,p.V445M|uc001xhs.3,p.V445M|uc001xhu.3,p.V445M|uc001xht.3,p.V445M|ENST00000389722,p.V445M|uc001xhr.3,p.V445M	retained_intron, protein_coding, processed_transcript	uc001xhu.3	nonsynonymous SNV	exon11	c.G1333A	p.V445M	MRETWLSENQRLVAQDNFGYDLAAV	MRETWLSENQRLMAQDNFGYDLAAV	4.0	7.0	-	-	4095_14:65263283-65263283 C>T_MRETWLSENQRLMAQDNFGYDLAAV
5:140730012-140730012 G>A	0.0	4095	COLON	-	-	ID=COSM3381136,COSM3381137;OCCURENCE=1(pancreas),1(central_nervous_system)	-	PCDHGB1	NM_032095,p.R62Q|NM_018922,p.R62Q|ENST00000523390,p.R62Q|uc003ljo.2,p.R62Q|uc011daq.2,p.R62Q	protein_coding	uc011daq.2	nonsynonymous SNV	exon1	c.G185A	p.R62Q	KDLGLSVRELPTRKLRVSAEDYFNV	KDLGLSVRELPTQKLRVSAEDYFNV	2.0	5.0	unscreened	-	4095_5:140730012-140730012 G>A_KDLGLSVRELPTQKLRVSAEDYFNV
16:9858337-9858337 G>A	0.0	4095	COLON	-	-	ID=COSM975079;OCCURENCE=1(endometrium)	1	GRIN2A	ENST00000330684,p.R1022C|uc002czo.4,p.R1022C|NM_001134408,p.R1022C|ENST00000396575,p.R1022C|NM_000833,p.R1022C|ENST00000535259,p.R865C|uc010uyn.2,p.R865C|ENST00000396573,p.R1022C|uc010uym.2,p.R1022C|ENST00000562109,p.R1022C|ENST00000404927,p.R1022C|uc002czr.4,p.R1022C|NM_001134407,p.R1022C	retained_intron, protein_coding, processed_transcript	uc010uyn.2	nonsynonymous SNV	exon12	c.C2593T	p.R865C	PRQLWKKSVDSIRQDSLSQNPVSQR	PRQLWKKSVDSICQDSLSQNPVSQR	4.0	9.0	-	-	4095_16:9858337-9858337 G>A_PRQLWKKSVDSICQDSLSQNPVSQR
5:140481191-140481191 G>A	0.0	4095	COLON	-	-	-	-	PCDHB3	ENST00000231130,p.E320K|NM_018937,p.E320K|uc003lio.3,p.E320K	protein_coding	uc003lio.3	nonsynonymous SNV	exon1	c.G958A	p.E320K	NFEAINSYEVDIEAKDGGGLSGKST	NFEAINSYEVDIKAKDGGGLSGKST	3.0	8.0	-	-	4095_5:140481191-140481191 G>A_NFEAINSYEVDIKAKDGGGLSGKST
5:5239271-5239271 G>T	0.0	4095	COLON	-	-	-	-	ADAMTS16	NM_139056,p.G721V|uc003jdl.3,p.G721V|uc003jdk.1,p.G721V|ENST00000274181,p.G721V	retained_intron, protein_coding, processed_transcript	uc003jdl.3	nonsynonymous SNV	exon15	c.G2162T	p.G721V	RNVCIDGICERVGCDNVLGSDAVED	RNVCIDGICERVVCDNVLGSDAVED	3.0	4.0	unscreened	-	4095_5:5239271-5239271 G>T_RNVCIDGICERVVCDNVLGSDAVED
11:113935062-113935062 G>A	0.0	4095	COLON	-	-	-	1	ZBTB16	NM_006006,p.S347N|uc001pop.3,p.S347N|ENST00000392996,p.S347N|uc001poo.1,p.S347N|uc001poq.3,p.S347N|NM_001018011,p.S347N|ENST00000335953,p.S347N	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc001poq.3	nonsynonymous SNV	exon2	c.G1040A	p.S347N	SVLPNHKADAVLSMPSSVTSGLHVQ	SVLPNHKADAVLNMPSSVTSGLHVQ	5.0	5.0	unscreened	-	4095_11:113935062-113935062 G>A_SVLPNHKADAVLNMPSSVTSGLHVQ
5:67588122-67588122 G>T	1.0	4095	COLON	-	-	-	1	PIK3R1	ENST00000320694,p.A18S|uc003jvc.3,p.A18S|NM_181524,p.A18S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jvc.3	nonsynonymous SNV	exon2	c.G52T	p.A18S	TLPPKPPKPTTVANNGMNNNMSLQD	TLPPKPPKPTTVSNNGMNNNMSLQD	9.0	3.0	unscreened	-	4095_5:67588122-67588122 G>T_TLPPKPPKPTTVSNNGMNNNMSLQD
5:67588122-67588122 G>T	1.0	4095	COLON	-	-	-	1	PIK3R1	NM_181523,p.A318S|ENST00000396611,p.A318S|ENST00000521657,p.A318S|uc003jva.3,p.A318S|ENST00000336483,p.A48S|NM_181504,p.A48S|ENST00000522084,p.A48S|ENST00000274335,p.A318S|ENST00000523807,p.A48S|ENST00000521381,p.A318S|uc003jvd.3,p.A48S	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc003jvd.3	nonsynonymous SNV	exon2	c.G142T	p.A48S	ALPPKPPKPTTVANNGMNNNMSLQD	ALPPKPPKPTTVSNNGMNNNMSLQD	9.0	3.0	unscreened	-	4095_5:67588122-67588122 G>T_ALPPKPPKPTTVSNNGMNNNMSLQD
12:63974550-63974550 A>G	0.0	4095	COLON	-	-	-	-	DPY19L2	uc001srp.1,p.S598P|NM_173812,p.S598P|ENST00000413230,p.S45P|ENST00000324472,p.S598P|uc010sso.1,p.S45P	retained_intron, protein_coding, nonsense_mediated_decay	uc010sso.1	nonsynonymous SNV	exon3	c.T133C	p.S45P	FEKVIFGILTVMSIQGYANLRNQWS	FEKVIFGILTVMPIQGYANLRNQWS	4.0	7.0	-	-	4095_12:63974550-63974550 A>G_FEKVIFGILTVMPIQGYANLRNQWS
7:44579272-44579272 G>A	0.0	4095	COLON	-	-	-	-	NPC1L1	NM_001101648,p.R242C|uc011kbw.2,p.R242C|NM_013389,p.R242C|ENST00000381160,p.R242C|uc003tlc.3,p.R242C|uc003tlb.3,p.R242C|ENST00000546276,p.R242C|NM_001300967,p.R242C|ENST00000423141,p.R242C|uc003tld.3,p.R242C|ENST00000289547,p.R242C	protein_coding	uc011kbw.2	nonsynonymous SNV	exon2	c.C724T	p.R242C	GSGIQPLNEGVARCNESQGDDVATC	GSGIQPLNEGVACCNESQGDDVATC	3.0	8.0	-	-	4095_7:44579272-44579272 G>A_GSGIQPLNEGVACCNESQGDDVATC
20:34061354-34061354 G>T	1.0	4095	COLON	-	-	-	-	CEP250	ENST00000342580,p.Q455H|ENST00000461386,p.Q455H|ENST00000425934,p.Q454H|ENST00000397527,p.Q455H|uc021wco.1,p.Q455H|NM_007186,p.Q455H	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc021wco.1	nonsynonymous SNV	exon13	c.G1365T	p.Q455H	ERDTLAGQTVDLQGEVDSLSKEREL	ERDTLAGQTVDLHGEVDSLSKEREL	8.0	6.0	unscreened	-	4095_20:34061354-34061354 G>T_ERDTLAGQTVDLHGEVDSLSKEREL
17:42151624-42151624 G>T	1.0	4095	COLON	-	-	-	-	G6PC3	NM_138387,p.E105D|ENST00000269097,p.E105D|uc002iex.3,p.E105D	retained_intron, protein_coding, nonsense_mediated_decay	uc002iex.3	nonsynonymous SNV	exon2	c.G315T	p.E105D	APAQVHQFPSSCETGPGSPSGHCMI	APAQVHQFPSSCDTGPGSPSGHCMI	9.0	2.0	unscreened	-	4095_17:42151624-42151624 G>T_APAQVHQFPSSCDTGPGSPSGHCMI
2:179542486-179542486 G>T	0.0	4095	COLON	-	-	-	-	TTN	ENST00000589042,p.L11385I|NM_001267550,p.L11385I|NM_001256850,p.L11068I|NM_133378,p.L10141I|uc031rqc.1,p.L11385I|ENST00000591111,p.L11068I|uc021vsy.2,p.L10141I|uc002umz.1,p.L6802I|ENST00000342992,p.L10141I|uc031rqd.1,p.L11068I	retained_intron, protein_coding	uc031rqd.1	nonsynonymous SNV	exon144	c.C33202A	p.L11068I	EEEEVLPEEEEVLPEEEEIPPEEEE	EEEEVLPEEEEVIPEEEEIPPEEEE	6.0	4.0	unscreened	-	4095_2:179542486-179542486 G>T_EEEEVLPEEEEVIPEEEEIPPEEEE
6:52103567-52103567 C>T	0.0	4095	COLON	-	-	-	-	IL17F	ENST00000336123,p.R72H|uc003pal.1,p.R18H|uc003pam.1,p.R72H|NM_052872,p.R72H	retained_intron, protein_coding	uc003pam.1	nonsynonymous SNV	exon2	c.G215A	p.R72H	GIINENQRVSMSRNIESRSTSPWNY	GIINENQRVSMSHNIESRSTSPWNY	3.0	7.0	-	-	4095_6:52103567-52103567 C>T_GIINENQRVSMSHNIESRSTSPWNY
1:201180261-201180261 G>T	0.0	4095	COLON	-	-	-	-	IGFN1	ENST00000335211,p.M2080I|NM_001164586,p.M2080I|uc001gwc.3,p.M2080I	retained_intron, protein_coding, nonsense_mediated_decay	uc001gwc.3	nonsynonymous SNV	exon12	c.G6240T	p.M2080I	AGYRKDLGAPKGMGSGSKTGFRDGL	AGYRKDLGAPKGIGSGSKTGFRDGL	3.0	2.0	unscreened	-	4095_1:201180261-201180261 G>T_AGYRKDLGAPKGIGSGSKTGFRDGL
5:115389807-115389807 G>T	0.0	4095	COLON	-	-	-	-	ARL14EPL	ENST00000601302,p.A65S|NM_001195581,p.A65S|uc021yct.1,p.A65S	protein_coding	uc021yct.1	nonsynonymous SNV	exon2	c.G193T	p.A65S	DFNPETRQQKKKARMSKMNEYFSTK	DFNPETRQQKKKSRMSKMNEYFSTK	1.0	8.0	-	-	4095_5:115389807-115389807 G>T_DFNPETRQQKKKSRMSKMNEYFSTK
11:63884935-63884935 A>C	1.0	4095	COLON	-	-	-	-	FLRT1	NM_013280,p.H399P|uc021qks.1,p.H399P|ENST00000246841,p.H399P|uc001nyi.1,p.H399P	protein_coding	uc021qks.1	nonsynonymous SNV	exon1	c.A1196C	p.H399P	VANAAAKTTASNHASATTPQGSLFT	VANAAAKTTASNPASATTPQGSLFT	1.0	3.0	unscreened	-	4095_11:63884935-63884935 A>C_VANAAAKTTASNPASATTPQGSLFT
22:18031730-18031730 C>A	0.0	4095	COLON	-	-	-	-	CECR2	ENST00000400573,p.P1409Q|NM_001290046,p.P1267Q|ENST00000400585,p.P1267Q|uc002zml.2,p.P1268Q|uc010gqv.1,p.P1267Q|ENST00000262608,p.P1410Q	protein_coding, processed_transcript, nonsense_mediated_decay	uc010gqv.1	nonsynonymous SNV	exon18	c.C3800A	p.P1267Q	QEMYRPSGMQMHPVQSQASFPKTPT	QEMYRPSGMQMHQVQSQASFPKTPT	4.0	4.0	unscreened	-	4095_22:18031730-18031730 C>A_QEMYRPSGMQMHQVQSQASFPKTPT
11:63884934-63884934 C>A	1.0	4095	COLON	-	-	-	-	FLRT1	uc021qks.1,p.H399N|uc001nyi.1,p.H399N|ENST00000246841,p.H399N|NM_013280,p.H399N	protein_coding	uc021qks.1	nonsynonymous SNV	exon1	c.C1195A	p.H399N	VANAAAKTTASNHASATTPQGSLFT	VANAAAKTTASNNASATTPQGSLFT	1.0	3.0	unscreened	-	4095_11:63884934-63884934 C>A_VANAAAKTTASNNASATTPQGSLFT
4:155287446-155287446 G>T	0.0	4095	COLON	-	-	-	-	DCHS2	uc003inx.2,p.Q798K|NM_001142552,p.Q798K|ENST00000339452,p.Q798K|NM_017639,p.Q204K|uc003inw.2,p.Q204K|ENST00000357232,p.Q204K	protein_coding, processed_transcript	uc003inx.2	nonsynonymous SNV	exon3	c.C2392A	p.Q798K	PGTEIINVLATDQDSGIYGTVAYEL	PGTEIINVLATDKDSGIYGTVAYEL	2.0	4.0	unscreened	-	4095_4:155287446-155287446 G>T_PGTEIINVLATDKDSGIYGTVAYEL
5:23527155-23527155 C>G	0.0	4095	COLON	-	rs111823228	-	-	PRDM9	NM_020227,p.T653S|uc003jgo.3,p.T653S|ENST00000296682,p.T653S	protein_coding	uc003jgo.3	nonsynonymous SNV	exon11	c.C1958G	p.T653S	CGRGFSRQSVLLTHQRRHTGEKPYV	CGRGFSRQSVLLSHQRRHTGEKPYV	1.0	5.0	unscreened	-	4095_5:23527155-23527155 C>G_CGRGFSRQSVLLSHQRRHTGEKPYV
17:70119730-70119730 ->G	1.0	4095	COLON	-	-	-	-	SOX9	ENST00000245479,p.D244fs|uc002jiw.3,p.D244fs|NM_000346,p.D244fs	protein_coding	uc002jiw.3	frameshift insertion	exon3	c.733dupG	p.D244fs	QGPPTPPTTPKTDVQPGKADLKREG	QGPPTPPTTPKTDGAAGQG	10.0	6.0	-	-	4095_17:70119730-70119730 ->G_QGPPTPPTTPKTDGAAGQG
19:38377392-38377409 CCTCCTCCTCCTCCCTTA>-	0.0	4095	COLON	-	-	ID=COSM439379;OCCURENCE=2(breast)	-	WDR87	ENST00000303868,p.2262_2268del|NM_031951,p.2262_2268del|uc010efu.2,p.2262_2268del|NM_001291088,p.2301_2307del|ENST00000447313,p.2301_2307del|uc002ohj.2,p.2301_2307del	retained_intron, protein_coding	uc010efu.2	nonframeshift deletion	exon6	c.6785_6802del	p.2262_2268del	EREEEEEREEEEVREEEEERKEEEE	EREEEEEREEEEERKEEEEGEEKQV	2.0	6.0	unscreened	-	4095_19:38377392-38377409 CCTCCTCCTCCTCCCTTA>-_EREEEEEREEEEERKEEEEGEEKQV
2:233712226-233712226 ->GCA	1.0	4095	COLON	-	-	-	-	GIGYF2	ENST00000409196,p.P1204delinsPQ|uc002vth.4,p.P1204delinsPQ|NM_001103148,p.P1204delinsPQ|NM_001103146,p.P1210delinsPQ|ENST00000409451,p.P1231delinsPQ|ENST00000373563,p.P1210delinsPQ|NM_001103147,p.P1231delinsPQ|ENST00000409547,p.P1210delinsPQ|ENST00000409480,p.P1232delinsPQ|uc002vtq.4,p.P543delinsPQ|ENST00000373566,p.P1232delinsPQ|NM_015575,p.P1210delinsPQ|uc002vtj.4,p.P1231delinsPQ|uc002vti.4,p.P1210delinsPQ|uc002vtk.4,p.P1210delinsPQ	retained_intron, protein_coding, processed_transcript, nonsense_mediated_decay	uc002vtq.4	nonframeshift insertion	exon11	c.1628_1629insGCA	p.P543delinsPQ	QKANQQRQQQQLPQQQQQQPPQQPP	QKANQQRQQQQLPQQQQQQQPPQQP	9.0	5.0	unscreened	-	4095_2:233712226-233712226 ->GCA_QKANQQRQQQQLPQQQQQQQPPQQP
X:152914821-152914821 G>A	0.0	4095	COLON	-	-	-	-	DUSP9	uc004fhy.4,p.D170N|NM_001395,p.D170N|ENST00000342782,p.D170N|uc004fhx.4,p.D170N|ENST00000370167,p.D170N	protein_coding, processed_transcript	uc004fhy.4	nonsynonymous SNV	exon3	c.G508A	p.D170N	PVVGLGSLCLGSDCSDAESEADRDS	PVVGLGSLCLGSNCSDAESEADRDS	2.0	7.0	-	-	4095_X:152914821-152914821 G>A_PVVGLGSLCLGSNCSDAESEADRDS
8:30889549-30889549 T>A	0.0	4095	COLON	-	-	-	-	PURG	NM_001015508,p.E250D|ENST00000475541,p.E250D|NM_013357,p.E250D|uc003xim.1,p.E250D|uc003xin.3,p.E250D|ENST00000339382,p.E250D	protein_coding	uc003xin.3	nonsynonymous SNV	exon1	c.A750T	p.E250D	QLIEDYGEGDIEERRGGDDDPLELP	QLIEDYGEGDIEDRRGGDDDPLELP	2.0	4.0	unscreened	-	4095_8:30889549-30889549 T>A_QLIEDYGEGDIEDRRGGDDDPLELP
1:201868580-201868580 G>T	0.0	4095	COLON	-	-	-	-	LMOD1	uc021phm.1,p.P521T|uc021phl.1,p.P521T|ENST00000367288,p.P521T|NM_012134,p.P521T|uc010ppu.2,p.P470T	protein_coding	uc021phm.1	nonsynonymous SNV	exon2	c.C1561A	p.P521T	PKPSPQPSPKPSPKNSPKKGGAPAA	PKPSPQPSPKPSTKNSPKKGGAPAA	7.0	6.0	-	-	4095_1:201868580-201868580 G>T_PKPSPQPSPKPSTKNSPKKGGAPAA